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
XRN2	22803	broad.mit.edu	37	20	21306927	21306927	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21306927G>A	ENST00000377191.3	+	2	181	c.86G>A	c.(85-87)tGc>tAc	p.C29Y	XRN2_ENST00000539513.1_5'UTR|XRN2_ENST00000430571.2_Intron	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	29					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CCAAAAGAATGCAATGGTGTA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TYR/CYS	1,4405	2.1+/-5.4	0,1,2202	107	100	102		86	4.6	1	20		102	0,8600		0,0,4300	no	missense	XRN2	NM_012255.3	194	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	benign	29/951	21306927	1,13005	2203	4300	6503	SO:0001583	missense			AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	22803	22803	3.1.13.-		12836	protein-coding gene	gene with protein product		608851			NA	10409438	Standard	NM_012255	NM_012255	NA	Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.86G>A	20.37:g.21306927G>A	ENSP00000366396:p.Cys29Tyr	NA	Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	37	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	7.652	0.683201	0.14907	2.27E-4	0.0	ENSG00000088930	ENST00000377191	T	0.29397	1.57	5.62	4.64	0.57946	Putative 5-3 exonuclease (1);	0.042575	0.85682	D	0.000000	T	0.16128	0.0388	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.13407	0.009	T	0.07616	-1.0763	10	0.09590	T	0.72	-12.7852	15.9854	0.80147	0.0:0.0:0.8651:0.1349	.	29	Q9H0D6	XRN2_HUMAN	Y	29	ENSP00000366396:C29Y	ENSP00000366396:C29Y	C	+	2	0	XRN2	21254927	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.266000	0.65525	2.648000	0.89879	0.650000	0.86243	TGC	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078273.2		+	ENST00000377191.3	Missense_Mutation	SNP	20 : 21306927 - 21306927 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	37
TTYH2	94015	broad.mit.edu	37	17	72239558	72239558	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72239558C>T	ENST00000269346.4	+	5	755	c.681C>T	c.(679-681)tgC>tgT	p.C227C	TTYH2_ENST00000534346.1_3'UTR|TTYH2_ENST00000529107.1_Silent_p.C206C	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	227						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TGGTCATCTGCCTCATTGCCT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													241	185	204			NA	NA	17		NA											NA				72239558		2203	4300	6503	SO:0001819	synonymous_variant				CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540	94015	94015			13877	protein-coding gene	gene with protein product		608855	tweety (Drosophila) homolog 2, tweety homolog 2 (Drosophila)		NA	11597145	Standard		XM_005257824	NA	Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.681C>T	17.37:g.72239558C>T		NA	B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	37	CCDS32717.1																																																																																			TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387459.1		+	ENST00000269346.4	Silent	SNP	17 : 72239558 - 72239558 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	646	112
GRIN2D	2906	broad.mit.edu	37	19	48908453	48908453	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48908453G>A	ENST00000263269.3	+	3	1016	c.928G>A	c.(928-930)Gct>Act	p.A310T		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	310						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	AGTGCGCTCGGCTGGCTGGCG	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													10	13	12			NA	NA	19		NA											NA				48908453		2153	4209	6362	SO:0001583	missense			U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464	2906	2906		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4588	protein-coding gene	gene with protein product	N-methyl-d-aspartate receptor subunit 2D	602717		NMDAR2D	NA	9480759, 9418891	Standard		NM_000836	NA	Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.928G>A	19.37:g.48908453G>A	ENSP00000263269:p.Ala310Thr	NA		37	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231789	0.58777	.	.	ENSG00000105464	ENST00000263269	T	0.05382	3.45	4.45	4.45	0.53987	Extracellular ligand-binding receptor (1);	0.161142	0.40728	N	0.001033	T	0.11793	0.0287	N	0.22421	0.69	0.39742	D	0.971764	P	0.51791	0.948	P	0.57371	0.819	T	0.13202	-1.0518	10	0.56958	D	0.05	.	16.2466	0.82448	0.0:0.0:1.0:0.0	.	310	O15399	NMDE4_HUMAN	T	310	ENSP00000263269:A310T	ENSP00000263269:A310T	A	+	1	0	GRIN2D	53600265	1.000000	0.71417	0.965000	0.40720	0.992000	0.81027	7.893000	0.87330	2.199000	0.70637	0.561000	0.74099	GCT	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466121.1		+	ENST00000263269.3	Missense_Mutation	SNP	19 : 48908453 - 48908453 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	114	7
MGAT3	4248	broad.mit.edu	37	22	39883623	39883623	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39883623G>A	ENST00000341184.6	+	2	486	c.271G>A	c.(271-273)Gag>Aag	p.E91K		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	91					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CAAGGCGGCCGAGGAGCTCCA	0.697		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	0,4384		0,0,2192	19	24	22		271,271	4.9	0.8	22		22	1,8559		0,1,4279	no	missense,missense	MGAT3	NM_001098270.1,NM_002409.4	56,56	0,1,6471	AA,AG,GG	NA	0.0117,0.0,0.0077	possibly-damaging,possibly-damaging	91/534,91/534	39883623	1,12943	2192	4280	6472	SO:0001583	missense			D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	4248	4248	2.4.1.144	Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases	7046	protein-coding gene	gene with protein product		604621			NA	8370666	Standard	NM_002409	NM_002409	NA	Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.271G>A	22.37:g.39883623G>A	ENSP00000345270:p.Glu91Lys	NA	A6NGD0|Q14CK5|Q6IC49|Q9UH32	37	CCDS13994.2	.	.	.	.	.	.	.	.	.	.	G	12.94	2.089656	0.36855	0.0	1.17E-4	ENSG00000128268	ENST00000341184;ENST00000429402	.	.	.	4.93	4.93	0.64822	.	0.209294	0.40385	N	0.001102	T	0.48943	0.1528	L	0.27053	0.805	0.38999	D	0.959309	D	0.61080	0.989	P	0.47573	0.55	T	0.56914	-0.7900	9	0.54805	T	0.06	.	18.1411	0.89639	0.0:0.0:1.0:0.0	.	91	Q09327	MGAT3_HUMAN	K	91	.	ENSP00000345270:E91K	E	+	1	0	MGAT3	38213569	1.000000	0.71417	0.790000	0.31976	0.406000	0.30931	5.095000	0.64529	2.281000	0.76405	0.467000	0.42956	GAG	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075039.2		+	ENST00000341184.6	Missense_Mutation	SNP	22 : 39883623 - 39883623 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	342	84
MYLIP	29116	broad.mit.edu	37	6	16141919	16141919	+	Silent	SNP	G	G	A	rs139469255	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:16141919G>A	ENST00000356840.3	+	3	540	c.342G>A	c.(340-342)gaG>gaA	p.E114E	MYLIP_ENST00000349606.4_5'UTR	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	114	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GTTCCCCAGAGCAGGCAGTGG	0.532		NA											G	2	9e-04	NA	NA	2184	NA	0.9995	,	,	NA	5e-04	0.0026	NA	NA	0.0012	0.8123	EXOME	NA	NA	0.001	SNP								NA				0								G		0,4406		0,0,2203	87	82	84		342	4.5	1	6	dbSNP_134	84	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous	MYLIP	NM_013262.3		0,7,6496	AA,AG,GG	NA	0.0814,0.0,0.0538		114/446	16141919	7,12999	2203	4300	6503	SO:0001819	synonymous_variant			AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944	29116	29116			21155	protein-coding gene	gene with protein product	E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor	610082			NA	10593918, 11162443, 19688294	Standard	NM_013262	NM_013262	NA	Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.342G>A	6.37:g.16141919G>A		NA	Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	37	CCDS4536.1																																																																																			MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043864.1		+	ENST00000356840.3	Silent	SNP	6 : 16141919 - 16141919 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	334	55
XPR1	9213	broad.mit.edu	37	1	180772672	180772672	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180772672A>C	ENST00000367590.4	+	4	570	c.372A>C	c.(370-372)caA>caC	p.Q124H	XPR1_ENST00000367589.3_Missense_Mutation_p.Q124H	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	124	SPX.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						AACGTGTCCAACATAGAAATA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	148	149			NA	NA	1		NA											NA				180772672		2203	4300	6503	SO:0001583	missense			AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324	9213	9213			12827	protein-coding gene	gene with protein product		605237	xenotropic and polytropic retrovirus receptor		NA	9990033	Standard	NM_004736	NM_004736	NA	Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.372A>C	1.37:g.180772672A>C	ENSP00000356562:p.Gln124His	NA	O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	37	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.813707	0.50527	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T	0.45276	0.9	5.93	3.63	0.41609	SPX, N-terminal (2);	0.105520	0.64402	D	0.000004	T	0.24661	0.0598	N	0.17379	0.485	0.49213	D	0.999762	B;B	0.18310	0.027;0.009	B;B	0.19666	0.026;0.014	T	0.04400	-1.0954	10	0.33141	T	0.24	-10.9566	7.4345	0.27148	0.6443:0.0:0.3557:0.0	.	124;124	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	H	124	ENSP00000356562:Q124H	ENSP00000356561:Q124H	Q	+	3	2	XPR1	179039295	0.566000	0.26618	1.000000	0.80357	0.990000	0.78478	-0.162000	0.10012	0.510000	0.28216	0.482000	0.46254	CAA	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084996.2		+	ENST00000367590.4	Missense_Mutation	SNP	1 : 180772672 - 180772672 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	615	186
TMEM177	80775	broad.mit.edu	37	2	120439135	120439135	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120439135G>A	ENST00000409951.1	+	2	366				TMEM177_ENST00000401466.1_Missense_Mutation_p.A236T|TMEM177_ENST00000272521.6_Missense_Mutation_p.A236T|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000424086.1_Missense_Mutation_p.A236T			Q53S58	TM177_HUMAN	transmembrane protein 177	NA						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CCGCCGCACGGCCTCCCTCTC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	51	52			NA	NA	2		NA											NA				120439135		2203	4300	6503	SO:0001627	intron_variant			BC004404	CCDS2128.1	2q14.2	2008-02-05			ENSG00000144120	ENSG00000144120	80775	80775			28143	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_030577	NM_001105198	NA	Approved	MGC10993	uc002tmc.1	Q53S58	OTTHUMG00000153312	ENST00000409951.1:c.270+436G>A	2.37:g.120439135G>A		NA	Q9BT20	37		.	.	.	.	.	.	.	.	.	.	G	17.54	3.414262	0.62511	.	.	ENSG00000144120	ENST00000401466;ENST00000424086;ENST00000272521;ENST00000415646	T;T;T	0.51574	0.7;0.7;0.7	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.70263	0.3204	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75357	-0.3346	10	0.87932	D	0	-1.1583	15.7392	0.77876	0.0:0.0:1.0:0.0	.	236	Q53S58	TM177_HUMAN	T	236;236;236;203	ENSP00000385966:A236T;ENSP00000402661:A236T;ENSP00000272521:A236T	ENSP00000272521:A236T	A	+	1	0	TMEM177	120155605	1.000000	0.71417	0.482000	0.27366	0.050000	0.14768	9.037000	0.93765	2.402000	0.81655	0.549000	0.68633	GCC	TMEM177-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000330675.1		+	ENST00000409951.1	Intron	SNP	2 : 120439135 - 120439135 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	355	40
EIF2B5	8893	broad.mit.edu	37	3	183860674	183860674	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183860674G>T	ENST00000273783.3	+	11	1776	c.1654G>T	c.(1654-1656)Gtg>Ttg	p.V552L	EIF2B5_ENST00000444495.1_Splice_Site_p.V552L	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	552	W2.				astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TGACATCAAAGGTGAGTGGCA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	35	33			NA	NA	3		NA											NA				183860674		2203	4300	6503	SO:0001630	splice_region_variant			U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191	8893	8893			3261	protein-coding gene	gene with protein product		603945	eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)		NA	8688466	Standard		NM_003907	NA	Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.1654+1G>T	3.37:g.183860674G>T		NA	Q541Z1|Q96D04	37	CCDS3252.1	.	.	.	.	.	.	.	.	.	.	g	15.75	2.925822	0.52759	.	.	ENSG00000145191	ENST00000273783;ENST00000444495;ENST00000544027	D;D	0.83419	-1.72;-1.72	5.78	5.78	0.91487	eIF4-gamma/eIF5/eIF2-epsilon (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87617	0.6222	L	0.48174	1.505	0.80722	D	1	B;D	0.54964	0.023;0.969	B;P	0.61275	0.004;0.886	D	0.84377	0.0547	10	0.28530	T	0.3	.	20.0055	0.97434	0.0:0.0:1.0:0.0	.	552;552	E9PC74;Q13144	.;EI2BE_HUMAN	L	552;552;308	ENSP00000273783:V552L;ENSP00000409142:V552L	ENSP00000273783:V552L	V	+	1	0	EIF2B5	185343368	1.000000	0.71417	0.991000	0.47740	0.746000	0.42486	7.329000	0.79170	2.722000	0.93159	0.561000	0.74099	GTG	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346168.1	Missense_Mutation	+	ENST00000273783.3	Splice_Site	SNP	3 : 183860674 - 183860674 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	134	27
HDAC9	9734	broad.mit.edu	37	7	18631230	18631230	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18631230T>C	ENST00000524023.1	+	4	610	c.405T>C	c.(403-405)aaT>aaC	p.N135N	HDAC9_ENST00000441542.2_Silent_p.N169N|HDAC9_ENST00000405010.3_Silent_p.N166N|HDAC9_ENST00000417496.2_Silent_p.N208N|HDAC9_ENST00000432645.2_Silent_p.N166N|HDAC9_ENST00000456174.2_Silent_p.N138N|HDAC9_ENST00000406072.1_Silent_p.N197N|HDAC9_ENST00000406451.4_Silent_p.N166N|HDAC9_ENST00000428307.2_Silent_p.N166N|HDAC9_ENST00000401921.1_Silent_p.N169N	NM_001204147.1	NP_001191076.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	166					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ATGGAAAAAATCATTCCGTGA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	85	85			NA	NA	7		NA											NA				18631230		1954	4153	6107	SO:0001819	synonymous_variant			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052	9734	9734			14065	protein-coding gene	gene with protein product		606543			NA	10523670, 10487760	Standard		NM_178425	NA	Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000524023.1:c.405T>C	7.37:g.18631230T>C		NA	A7E2F3|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	37	CCDS56468.1																																																																																			HDAC9-022	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376089.1		+	ENST00000524023.1	Silent	SNP	7 : 18631230 - 18631230 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	200	13
FAM151B	167555	broad.mit.edu	37	5	79837528	79837528	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79837528C>A	ENST00000282226.4	+	6	863	c.708C>A	c.(706-708)aaC>aaA	p.N236K	FAM151B_ENST00000511718.1_3'UTR	NM_205548.2	NP_991111.2	Q6UXP7	F151B_HUMAN	family with sequence similarity 151, member B	236										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	7		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		AAAATGATAACTATTCCGTTG	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	71	70			NA	NA	5		NA											NA				79837528		2203	4297	6500	SO:0001583	missense				CCDS4051.1	5q14.1	2007-12-18	2007-12-18		ENSG00000152380	ENSG00000152380	167555	167555			33716	protein-coding gene	gene with protein product					NA		Standard	NM_205548	NM_205548	NA	Approved	UNQ9217	uc003kgv.2	Q6UXP7	OTTHUMG00000131303	ENST00000282226.4:c.708C>A	5.37:g.79837528C>A	ENSP00000282226:p.Asn236Lys	NA	A2RRE4	37	CCDS4051.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.530438	0.27387	.	.	ENSG00000152380	ENST00000282226	T	0.10573	2.86	5.74	1.3	0.21679	.	0.850415	0.10963	N	0.614717	T	0.04588	0.0125	N	0.05383	-0.06	0.24922	N	0.991979	B	0.02656	0.0	B	0.04013	0.001	T	0.42632	-0.9440	10	0.28530	T	0.3	-11.1392	3.0276	0.06096	0.4643:0.3169:0.1262:0.0925	.	236	Q6UXP7	F151B_HUMAN	K	236	ENSP00000282226:N236K	ENSP00000282226:N236K	N	+	3	2	FAM151B	79873284	0.998000	0.40836	0.984000	0.44739	0.991000	0.79684	0.862000	0.27899	0.296000	0.22592	0.585000	0.79938	AAC	FAM151B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254072.1		+	ENST00000282226.4	Missense_Mutation	SNP	5 : 79837528 - 79837528 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	280	53
USO1	8615	broad.mit.edu	37	4	76733463	76733463	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76733463C>A	ENST00000538159.1	+	24	2761	c.2761C>A	c.(2761-2763)Ctc>Atc	p.L921I	USO1_ENST00000514213.2_Missense_Mutation_p.L897I			O60763	USO1_HUMAN	USO1 vesicle transport factor	912					intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTCTTGGTGCTCTTGGCCGA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	54	55			NA	NA	4		NA											NA				76733463		1833	4085	5918	SO:0001583	missense			AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768	8615	8615			30904	protein-coding gene	gene with protein product	vesicle docking protein, transcytosis associated protein	603344	USO1 homolog, vesicle docking protein (yeast), USO1 vesicle docking protein homolog (yeast)		NA	9478999, 9150144, 12077354, 15979508, 14736916	Standard	NM_003715	XM_006714395	NA	Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.2761C>A	4.37:g.76733463C>A	ENSP00000440586:p.Leu921Ile	NA	B2RAQ0|Q6PK63|Q86TB8|Q8N592	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.096368|4.096368	0.76870|0.76870	.|.	.|.	ENSG00000138768|ENSG00000138768	ENST00000441296|ENST00000508939;ENST00000538159;ENST00000514213;ENST00000264904	.|.	.|.	.|.	5.78|5.78	4.07|4.07	0.47477|0.47477	.|Uso1/p115-like vesicle tethering protein, C-terminal (1);Armadillo-type fold (1);	.|0.068870	.|0.64402	.|D	.|0.000013	.|T	.|0.75932	.|0.3917	M|M	0.70595|0.70595	2.14|2.14	0.47407|0.47407	D|D	0.999417|0.999417	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.87578	.|0.993;0.998	.|T	.|0.74463	.|-0.3657	.|9	.|0.38643	.|T	.|0.18	.|.	12.5974|12.5974	0.56478|0.56478	0.0:0.866:0.0:0.134|0.0:0.866:0.0:0.134	.|.	.|921;912	.|F5GYR8;O60763	.|.;USO1_HUMAN	X|I	587|747;921;897;840	.|.	.|ENSP00000264904:L840I	C|L	+|+	3|1	2|0	USO1|USO1	76952487|76952487	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.945000|0.945000	0.59286|0.59286	3.342000|3.342000	0.52159|0.52159	0.813000|0.813000	0.34350|0.34350	-0.157000|-0.157000	0.13467|0.13467	TGC|CTC	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding			+	ENST00000538159.1	Missense_Mutation	SNP	4 : 76733463 - 76733463 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	61	8
SPTBN5	51332	broad.mit.edu	37	15	42164561	42164561	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42164561G>A	ENST00000320955.6	-	27	5331	c.5104C>T	c.(5104-5106)Cgt>Tgt	p.R1702C		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1702					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGCACCACACGCTGCTGCTCA	0.612		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	15		NA											NA				42164561		2110	4252	6362	SO:0001583	missense			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877	51332	51332			15680	protein-coding gene	gene with protein product	beta V spectrin	605916			NA	10764729	Standard	NM_016642	NM_016642	NA	Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.5104C>T	15.37:g.42164561G>A	ENSP00000317790:p.Arg1702Cys	NA		37		.	.	.	.	.	.	.	.	.	.	.	14.65	2.597539	0.46318	.	.	ENSG00000137877	ENST00000320955	T	0.51071	0.72	4.12	-8.23	0.01033	.	2.359520	0.01718	N	0.028136	T	0.51500	0.1678	L	0.50333	1.59	0.09310	N	1	D	0.76494	0.999	P	0.54174	0.744	T	0.63932	-0.6525	10	0.56958	D	0.05	.	11.1247	0.48310	0.0:0.2549:0.581:0.1641	.	1702	Q9NRC6	SPTN5_HUMAN	C	1702	ENSP00000317790:R1702C	ENSP00000317790:R1702C	R	-	1	0	SPTBN5	39951853	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.166000	0.03129	-1.364000	0.02161	-1.086000	0.02197	CGT	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000420237.1		-	ENST00000320955.6	Missense_Mutation	SNP	15 : 42164561 - 42164561 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	90	29
EXTL3	2137	broad.mit.edu	37	8	28575113	28575113	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28575113C>T	ENST00000220562.4	+	3	2439	c.1537C>T	c.(1537-1539)Cgc>Tgc	p.R513C	EXTL3_ENST00000523149.1_Missense_Mutation_p.R129C|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	513						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GCGGCAAGGCCGCTTTCTCTG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	58	58			NA	NA	8		NA											NA				28575113		2203	4300	6503	SO:0001583	missense			U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2137	2137	2.4.1.223	Exostosin glycosyltransferase family	3518	protein-coding gene	gene with protein product	REG receptor, glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase	605744	exostoses (multiple)-like 3		NA	9479495, 9450183, 11257457	Standard	NM_001440	NM_001440	NA	Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.1537C>T	8.37:g.28575113C>T	ENSP00000220562:p.Arg513Cys	NA	D3DST8|O00225|Q53XT3	37	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138105	0.77775	.	.	ENSG00000012232	ENST00000523149;ENST00000220562	D;D	0.96300	-3.53;-3.97	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.98065	0.9362	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98383	1.0559	10	0.66056	D	0.02	-23.0606	20.0522	0.97631	0.0:1.0:0.0:0.0	.	513	O43909	EXTL3_HUMAN	C	129;513	ENSP00000428691:R129C;ENSP00000220562:R513C	ENSP00000220562:R513C	R	+	1	0	EXTL3	28631032	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.813000	0.86123	2.737000	0.93849	0.563000	0.77884	CGC	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219987.3		+	ENST00000220562.4	Missense_Mutation	SNP	8 : 28575113 - 28575113 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	465	89
SPTA1	6708	broad.mit.edu	37	1	158612750	158612750	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158612750C>T	ENST00000368147.4	-	32	4639	c.4459G>A	c.(4459-4461)Gca>Aca	p.A1487T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	NA					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCAGTTGTGCTTTGAGAGCC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	96	99			NA	NA	1		NA											NA				158612750		1991	4176	6167	SO:0001583	missense			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554	6708	6708		EF-hand domain containing	11272	protein-coding gene	gene with protein product	elliptocytosis 2	182860	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		NA		Standard	NM_003126	NM_003126	NA	Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4459G>A	1.37:g.158612750C>T	ENSP00000357129:p.Ala1487Thr	NA	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	9.559	1.117860	0.20877	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.49432	0.78;0.78	5.2	1.14	0.20703	.	2.573990	0.02328	N	0.073630	T	0.17831	0.0428	L	0.41573	1.285	0.22317	N	0.999201	B	0.06786	0.001	B	0.09377	0.004	T	0.06954	-1.0798	10	0.29301	T	0.29	.	6.6757	0.23093	0.0:0.6484:0.1288:0.2228	.	1487	P02549	SPTA1_HUMAN	T	1487	ENSP00000357130:A1487T;ENSP00000357129:A1487T	ENSP00000357129:A1487T	A	-	1	0	SPTA1	156879374	0.961000	0.32948	0.035000	0.18076	0.702000	0.40608	1.766000	0.38491	0.057000	0.16193	0.655000	0.94253	GCA	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051851.3		-	ENST00000368147.4	Missense_Mutation	SNP	1 : 158612750 - 158612750 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	288	12
MAGI1	9223	broad.mit.edu	37	3	65342481	65342481	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:65342481G>A	ENST00000402939.2	-	23	3960	c.3961C>T	c.(3961-3963)Cgg>Tgg	p.R1321W	MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1350					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TCTGGGGACCGCCTCTTGGGG	0.711		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	3		NA											NA				65342481		2203	4298	6501	SO:0001583	missense			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276	9223	9223			946	protein-coding gene	gene with protein product		602625	BAI1-associated protein 1	BAIAP1	NA	9647739, 9225980	Standard	NM_004742	XM_005265563	NA	Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000402939.2:c.3961C>T	3.37:g.65342481G>A	ENSP00000385450:p.Arg1321Trp	NA	O00309|O43863|O75085|Q96QZ8|Q96QZ9	37	CCDS33780.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495189	0.26774	.	.	ENSG00000151276	ENST00000402939	T	0.14022	2.54	5.31	0.16	0.14972	.	0.351946	0.28784	N	0.014145	T	0.09512	0.0234	L	0.27053	0.805	0.20764	N	0.99985	D	0.60160	0.987	B	0.43123	0.409	T	0.21655	-1.0239	10	0.72032	D	0.01	-8.2417	9.3632	0.38208	0.0:0.069:0.461:0.47	.	1321	Q96QZ7-2	.	W	1321	ENSP00000385450:R1321W	ENSP00000385450:R1321W	R	-	1	2	MAGI1	65317521	0.002000	0.14202	0.004000	0.12327	0.013000	0.08279	0.548000	0.23314	-0.203000	0.10251	-0.181000	0.13052	CGG	MAGI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349126.1		-	ENST00000402939.2	Missense_Mutation	SNP	3 : 65342481 - 65342481 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	523	14
SGSM2	9905	broad.mit.edu	37	17	2281186	2281186	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2281186G>T	ENST00000574563.1	+	21	2770	c.2703G>T	c.(2701-2703)caG>caT	p.Q901H	SGSM2_ENST00000268989.3_Missense_Mutation_p.Q946H|SGSM2_ENST00000426855.2_Missense_Mutation_p.Q901H|RP1-59D14.5_ENST00000574290.1_RNA			O43147	SGSM2_HUMAN	small G protein signaling modulator 2	901	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		TGATGCATCAGAATGGAGACT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													218	183	195			NA	NA	17		NA											NA				2281186		2203	4300	6503	SO:0001583	missense			BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258	9905	9905		Small G protein signaling modulators	29026	protein-coding gene	gene with protein product		611418	RUN and TBC1 domain containing 1	RUTBC1	NA	9455477, 17509819, 21808068	Standard	NM_014853	NM_014853	NA	Approved	KIAA0397	uc002fum.4	O43147		ENST00000574563.1:c.2703G>T	17.37:g.2281186G>T	ENSP00000459126:p.Gln901His	NA	A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	37		.	.	.	.	.	.	.	.	.	.	g	15.47	2.841965	0.51057	.	.	ENSG00000141258	ENST00000268989;ENST00000426855	T;T	0.23147	1.92;1.92	6.04	3.73	0.42828	Rab-GAP/TBC domain (5);	0.216848	0.49305	D	0.000150	T	0.46833	0.1413	M	0.75447	2.3	0.47862	D	0.999531	D;D;D;D	0.69078	0.997;0.984;0.984;0.98	D;P;P;P	0.71414	0.973;0.876;0.876;0.844	T	0.48927	-0.8991	10	0.72032	D	0.01	-5.6589	9.9037	0.41364	0.2421:0.0:0.7579:0.0	.	901;901;901;946	O43147-5;B9A6J3;O43147;O43147-2	.;.;SGSM2_HUMAN;.	H	946;901	ENSP00000268989:Q946H;ENSP00000415107:Q901H	ENSP00000268989:Q946H	Q	+	3	2	SGSM2	2227936	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.766000	0.47629	1.542000	0.49330	0.651000	0.88453	CAG	SGSM2-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000438187.1		+	ENST00000574563.1	Missense_Mutation	SNP	17 : 2281186 - 2281186 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	535	91
TAGAP	117289	broad.mit.edu	37	6	159457286	159457286	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159457286G>T	ENST00000367066.3	-	10	2100	c.1769C>A	c.(1768-1770)cCt>cAt	p.P590H	RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.P412H	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	590					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TGGGCTTCCAGGCCTCTCCCA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	50	48			NA	NA	6		NA											NA				159457286		2203	4300	6503	SO:0001583	missense			AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691	117289	117289		Rho GTPase activating proteins	15669	protein-coding gene	gene with protein product		609667	T-cell activation GTPase activating protein		NA	16375659, 18311140, 18356936	Standard	NM_054114	NM_152133	NA	Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.1769C>A	6.37:g.159457286G>T	ENSP00000356033:p.Pro590His	NA	Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	37	CCDS5261.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436674	0.83885	.	.	ENSG00000164691	ENST00000367066;ENST00000326965;ENST00000539071	T;T	0.71222	-0.45;-0.55	5.54	5.54	0.83059	.	0.075686	0.56097	D	0.000030	D	0.82291	0.5005	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.69142	0.962	D	0.84171	0.0434	10	0.87932	D	0	-13.9202	19.077	0.93167	0.0:0.0:1.0:0.0	.	590	Q8N103	TAGAP_HUMAN	H	590;412;255	ENSP00000356033:P590H;ENSP00000322650:P412H	ENSP00000322650:P412H	P	-	2	0	TAGAP	159377274	1.000000	0.71417	0.010000	0.14722	0.001000	0.01503	5.734000	0.68580	2.595000	0.87683	0.655000	0.94253	CCT	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042890.1		-	ENST00000367066.3	Missense_Mutation	SNP	6 : 159457286 - 159457286 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	471	81
NPAS3	64067	broad.mit.edu	37	14	34029338	34029338	+	Silent	SNP	C	C	T	rs144736542		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:34029338C>T	ENST00000346562.2	+	4	458	c.384C>T	c.(382-384)ggC>ggT	p.G128G	NPAS3_ENST00000356141.4_Silent_p.G160G|NPAS3_ENST00000551492.1_Silent_p.G165G|NPAS3_ENST00000357798.5_Silent_p.G147G|NPAS3_ENST00000341321.4_Silent_p.G160G|NPAS3_ENST00000547068.1_Silent_p.G56G|NPAS3_ENST00000551008.1_Silent_p.G58G|NPAS3_ENST00000548645.1_Silent_p.G130G	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CCCTGGATGGCTTTGTATTTG	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	76	77			NA	NA	14		NA											NA				34029338		2203	4300	6503	SO:0001819	synonymous_variant			AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322	64067	64067		Basic helix-loop-helix proteins	19311	protein-coding gene	gene with protein product		609430			NA		Standard		NM_022123	NA	Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000346562.2:c.384C>T	14.37:g.34029338C>T		NA	Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	37	CCDS9645.1																																																																																			NPAS3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276644.1		+	ENST00000346562.2	Silent	SNP	14 : 34029338 - 34029338 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	399	79
MUC5B	727897	broad.mit.edu	37	11	1279584	1279584	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1279584G>T	ENST00000529681.1	+	43	16638	c.16580G>T	c.(16579-16581)gGc>gTc	p.G5527V	MUC5B_ENST00000447027.1_Missense_Mutation_p.G5530V	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5527	VWFC 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCGTACAATGGCACCTTCTAC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	58	55			NA	NA	11		NA											NA				1279584		2072	4194	6266	SO:0001583	missense			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983	727897	727897		Mucins	7516	protein-coding gene	gene with protein product		600770	mucin 5, subtype B, tracheobronchial	MUC5	NA	9804771	Standard	XM_001126093	NM_002458	NA	Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.16580G>T	11.37:g.1279584G>T	ENSP00000436812:p.Gly5527Val	NA	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	7.870	0.727900	0.15507	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000546052;ENST00000406844;ENST00000526859	T;T;T	0.73789	-0.78;-0.78;-0.78	4.91	1.72	0.24424	.	.	.	.	.	T	0.78966	0.4367	M	0.61703	1.905	0.09310	N	1	D;D	0.69078	0.997;0.997	D;D	0.64144	0.922;0.922	T	0.65335	-0.6193	9	0.87932	D	0	.	3.7086	0.08411	0.2141:0.0:0.5932:0.1926	.	5864;5530	A7Y9J9;E9PBJ0	.;.	V	5527;5530;5471;426;5239;72	ENSP00000436812:G5527V;ENSP00000415793:G5530V;ENSP00000434539:G72V	ENSP00000343037:G5471V	G	+	2	0	MUC5B	1236160	0.003000	0.15002	0.045000	0.18777	0.015000	0.08874	0.981000	0.29526	0.564000	0.29238	0.462000	0.41574	GGC	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390041.2		+	ENST00000529681.1	Missense_Mutation	SNP	11 : 1279584 - 1279584 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	135	20
LRRC7	57554	broad.mit.edu	37	1	70503819	70503819	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70503819C>T	ENST00000310961.5	+	22	2631	c.2213C>T	c.(2212-2214)cCt>cTt	p.P738L	LRRC7_ENST00000035383.5_Missense_Mutation_p.P733L|LRRC7_ENST00000415775.2_Missense_Mutation_p.P17L			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	733						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTCCCACAGCCTCTTGATTCA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	154	151			NA	NA	1		NA											NA				70503819		2203	4300	6503	SO:0001583	missense				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122	57554	57554			18531	protein-coding gene	gene with protein product		614453			NA	12525888	Standard	NM_020794	NM_020794	NA	Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000310961.5:c.2213C>T	1.37:g.70503819C>T	ENSP00000309245:p.Pro738Leu	NA	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	37		.	.	.	.	.	.	.	.	.	.	C	16.00	2.999194	0.54147	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.68025	-0.3;-0.18;1.35	5.38	4.46	0.54185	.	0.128125	0.52532	D	0.000064	T	0.67401	0.2889	L	0.50333	1.59	0.80722	D	1	D;D	0.76494	0.999;0.997	D;P	0.71656	0.974;0.879	T	0.67110	-0.5753	10	0.33141	T	0.24	.	13.5366	0.61650	0.0:0.9239:0.0:0.0761	.	17;733	F8WE45;Q96NW7	.;LRRC7_HUMAN	L	738;733;17;556	ENSP00000309245:P738L;ENSP00000035383:P733L;ENSP00000394867:P17L	ENSP00000035383:P733L	P	+	2	0	LRRC7	70276407	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	7.420000	0.80191	1.250000	0.43966	0.467000	0.42956	CCT	LRRC7-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000131262.2		+	ENST00000310961.5	Missense_Mutation	SNP	1 : 70503819 - 70503819 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1060	90
FLCN	201163	broad.mit.edu	37	17	17131402	17131402	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17131402C>T	ENST00000285071.4	-	4	504	c.50G>A	c.(49-51)cGc>cAc	p.R17H	FLCN_ENST00000389169.5_Missense_Mutation_p.R17H|RP11-45M22.4_ENST00000427497.3_Missense_Mutation_p.R17H	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	17					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GAAGAGAGTGCGGGGGCCGTG	0.622		NA							Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	44	49			NA	NA	17		NA											NA				17131402		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803	201163	201163			27310	protein-coding gene	gene with protein product		607273			NA		Standard	NM_144606	NM_144997	NA	Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.50G>A	17.37:g.17131402C>T	ENSP00000285071:p.Arg17His	NA	A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	37	CCDS32579.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426711	0.62733	.	.	ENSG00000154803	ENST00000285071;ENST00000389169;ENST00000389168;ENST00000389171	D;D	0.93547	-3.24;-3.04	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.95717	0.8607	L	0.52573	1.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.83275	0.977;0.996;0.899	D	0.95876	0.8895	10	0.66056	D	0.02	-12.8119	18.4682	0.90763	0.0:1.0:0.0:0.0	.	17;17;17	Q8NFG4-3;Q8NFG4-2;Q8NFG4	.;.;FLCN_HUMAN	H	17	ENSP00000285071:R17H;ENSP00000373821:R17H	ENSP00000285071:R17H	R	-	2	0	FLCN	17072127	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.228000	0.78079	2.606000	0.88127	0.655000	0.94253	CGC	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131577.1		-	ENST00000285071.4	Missense_Mutation	SNP	17 : 17131402 - 17131402 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	262	49
WFDC1	58189	broad.mit.edu	37	16	84353108	84353108	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84353108C>T	ENST00000219454.5	+	4	819	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	WFDC1_ENST00000568638.1_Silent_p.L165L	NM_001282466.1|NM_001282467.1	NP_001269395.1|NP_001269396.1	Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1	165					negative regulation of cell growth	extracellular space	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						GTGCCACATCCTGAGCCCAGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	65	72			NA	NA	16		NA											NA				84353108		2200	4300	6500	SO:0001819	synonymous_variant			AF302109	CCDS10946.1	16q24.1	2013-01-21			ENSG00000103175	ENSG00000103175	58189	58189		WAP four-disulfide core domain containing	15466	protein-coding gene	gene with protein product		605322			NA	10967136	Standard		NM_021197	NA	Approved	PS20	uc002fhw.3	Q9HC57	OTTHUMG00000137641	ENST00000219454.5:c.493C>T	16.37:g.84353108C>T		NA	D3DUL7|Q8NC27|Q9HAU1	37	CCDS10946.1																																																																																			WFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269083.2		+	ENST00000219454.5	Silent	SNP	16 : 84353108 - 84353108 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	376	44
DTX1	1840	broad.mit.edu	37	12	113496220	113496220	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113496220G>A	ENST00000257600.3	+	1	726	c.223G>A	c.(223-225)Gac>Aac	p.D75N		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	75	WWE 1.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CTACATCATCGACCTGCAGTC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	113	115			NA	NA	12		NA											NA				113496220		2203	4300	6503	SO:0001583	missense			AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144	1840	1840			3060	protein-coding gene	gene with protein product		602582	deltex homolog 1 (Drosophila)		NA	9590294, 12670957	Standard		NM_004416	NA	Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.223G>A	12.37:g.113496220G>A	ENSP00000257600:p.Asp75Asn	NA	O60630|Q9BS04	37	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	G	34	5.301233	0.95601	.	.	ENSG00000135144	ENST00000257600	T	0.56941	0.43	4.05	4.05	0.47172	WWE domain (2);WWE domain, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.69824	0.3154	M	0.69823	2.125	0.51012	D	0.999909	D	0.76494	0.999	D	0.83275	0.996	T	0.70241	-0.4926	10	0.36615	T	0.2	-5.2327	15.2014	0.73139	0.0:0.0:1.0:0.0	.	75	Q86Y01	DTX1_HUMAN	N	75	ENSP00000257600:D75N	ENSP00000257600:D75N	D	+	1	0	DTX1	111980603	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.902000	0.92568	2.104000	0.64026	0.555000	0.69702	GAC	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405045.2		+	ENST00000257600.3	Missense_Mutation	SNP	12 : 113496220 - 113496220 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	646	128
CNTN6	27255	broad.mit.edu	37	3	1424997	1424997	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:1424997G>T	ENST00000446702.2	+	19	3049	c.2422G>T	c.(2422-2424)Gga>Tga	p.G808*	CNTN6_ENST00000350110.2_Nonsense_Mutation_p.G808*|CNTN6_ENST00000539053.1_Nonsense_Mutation_p.G736*			Q9UQ52	CNTN6_HUMAN	contactin 6	808	Fibronectin type-III 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GGCCCCAAGGGGAACTTCTCT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													192	200	197			NA	NA	3		NA											NA				1424997		2203	4300	6503	SO:0001587	stop_gained			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115	27255	27255		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	2176	protein-coding gene	gene with protein product	neural adhesion molecule	607220			NA	9486763	Standard	NM_014461	NM_014461	NA	Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2422G>T	3.37:g.1424997G>T	ENSP00000407822:p.Gly808*	NA	Q2KHM2	37	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	42	9.272061	0.99120	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	.	.	.	5.58	3.8	0.43715	.	0.229512	0.30547	N	0.009391	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	12.3055	0.54900	0.1271:0.0:0.8729:0.0	.	.	.	.	X	808;736;808	.	ENSP00000341882:G808X	G	+	1	0	CNTN6	1399997	0.996000	0.38824	0.339000	0.25562	0.227000	0.25037	2.570000	0.45981	0.751000	0.32900	-0.469000	0.05056	GGA	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239235.2		+	ENST00000446702.2	Nonsense_Mutation	SNP	3 : 1424997 - 1424997 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1357	230
PI4K2A	55361	broad.mit.edu	37	10	99433364	99433364	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99433364A>C	ENST00000370631.3	+	9	1362	c.1305A>C	c.(1303-1305)aaA>aaC	p.K435N	PI4K2A_ENST00000555577.1_Missense_Mutation_p.K405N|PI4K2A_ENST00000370649.3_Missense_Mutation_p.K405N	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	435	PI3K/PI4K.				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		AGGCCTTGAAAGACAACAAGA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	98	101			NA	NA	10		NA											NA				99433364		2203	4300	6503	SO:0001583	missense			AF070611	CCDS7469.1	10q24	2011-02-09			ENSG00000155252	ENSG00000155252	55361	55361			30031	protein-coding gene	gene with protein product		609763			NA	11244087, 11279162	Standard	NM_018425	NM_018425	NA	Approved	PI4KII, DKFZP761G1923, PIK42A	uc001kog.1	Q9BTU6	OTTHUMG00000018863	ENST00000370631.3:c.1305A>C	10.37:g.99433364A>C	ENSP00000359665:p.Lys435Asn	NA	D3DR59|Q9NSG8	37	CCDS7469.1	.	.	.	.	.	.	.	.	.	.	A	16.70	3.196353	0.58126	.	.	ENSG00000155252;ENSG00000155252;ENSG00000249967	ENST00000555577;ENST00000370631;ENST00000370649	T;T;T	0.77098	-1.07;-1.07;-1.07	5.23	2.91	0.33838	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.111374	0.64402	D	0.000011	D	0.83691	0.5309	M	0.76838	2.35	0.51012	D	0.999903	P;P;B	0.50617	0.937;0.937;0.169	P;P;B	0.59221	0.854;0.854;0.178	T	0.82438	-0.0457	10	0.72032	D	0.01	-8.1753	7.9555	0.30040	0.7768:0.0:0.2232:0.0	.	405;405;435	E9PAM4;B4DEP8;Q9BTU6	.;.;P4K2A_HUMAN	N	405;435;405	ENSP00000452243:K405N;ENSP00000359665:K435N;ENSP00000359683:K405N	ENSP00000359665:K435N	K	+	3	2	PI4K2A;RP11-548K23.11	99423354	0.992000	0.36948	1.000000	0.80357	0.996000	0.88848	0.394000	0.20834	0.455000	0.26910	0.533000	0.62120	AAA	PI4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049735.1		+	ENST00000370631.3	Missense_Mutation	SNP	10 : 99433364 - 99433364 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	661	140
LPIN2	9663	broad.mit.edu	37	18	2920375	2920375	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:2920375A>G	ENST00000261596.4	-	20	2845	c.2607T>C	c.(2605-2607)aaT>aaC	p.N869N		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	869					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GAAAAGCGGAATTCTGCTCCT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	51	53			NA	NA	18		NA											NA				2920375		2203	4300	6503	SO:0001819	synonymous_variant			D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577	9663	9663			14450	protein-coding gene	gene with protein product		605519			NA	11138012, 9039502	Standard	NM_014646	NM_014646	NA	Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.2607T>C	18.37:g.2920375A>G		NA	A7MD25|D3DUH3	37	CCDS11829.1																																																																																			LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254363.2		-	ENST00000261596.4	Silent	SNP	18 : 2920375 - 2920375 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	276	17
PLXNA4	91584	broad.mit.edu	37	7	132193105	132193105	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:132193105C>A	ENST00000359827.3	-	2	1310	c.348G>T	c.(346-348)aaG>aaT	p.K116N	PLXNA4_ENST00000321063.4_Missense_Mutation_p.K116N|PLXNA4_ENST00000423507.2_Missense_Mutation_p.K116N|PLXNA4_ENST00000378539.5_Missense_Mutation_p.K116N			Q9HCM2	PLXA4_HUMAN	plexin A4	116	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGAGGAGCATCTTGTTGACAT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	54	55			NA	NA	7		NA											NA				132193105		2203	4300	6503	SO:0001583	missense			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866	91584	91584		Plexins	9102	protein-coding gene	gene with protein product		604280	plexin A4, A, plexin A4, B	PLXNA4A, PLXNA4B	NA		Standard	NM_181775	NM_181775	NA	Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.348G>T	7.37:g.132193105C>A	ENSP00000352882:p.Lys116Asn	NA	Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963128	0.53507	.	.	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	T;T;T;T	0.08370	3.1;3.1;3.1;3.1	5.39	3.23	0.37069	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.64402	U	0.000003	T	0.30823	0.0777	M	0.91249	3.19	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.05517	-1.0880	10	0.87932	D	0	.	6.3108	0.21164	0.0:0.6125:0.0:0.3874	.	116;116;116	Q9HCM2-2;A4D1N6;Q9HCM2	.;.;PLXA4_HUMAN	N	116	ENSP00000323194:K116N;ENSP00000352882:K116N;ENSP00000392772:K116N;ENSP00000367800:K116N	ENSP00000323194:K116N	K	-	3	2	PLXNA4	131843645	0.997000	0.39634	1.000000	0.80357	0.991000	0.79684	0.547000	0.23299	1.271000	0.44313	0.462000	0.41574	AAG	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000338422.2		-	ENST00000359827.3	Missense_Mutation	SNP	7 : 132193105 - 132193105 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	293	55
SLC12A6	9990	broad.mit.edu	37	15	34531296	34531296	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34531296C>A	ENST00000354181.3	-	20	2994	c.2502G>T	c.(2500-2502)aaG>aaT	p.K834N	SLC12A6_ENST00000458406.2_Missense_Mutation_p.K775N|SLC12A6_ENST00000558589.1_Missense_Mutation_p.K825N|SLC12A6_ENST00000560611.1_Missense_Mutation_p.K834N|SLC12A6_ENST00000290209.5_Missense_Mutation_p.K783N|SLC12A6_ENST00000397707.2_Missense_Mutation_p.K819N|SLC12A6_ENST00000451844.2_Missense_Mutation_p.K646N|SLC12A6_ENST00000558667.1_Missense_Mutation_p.K834N|SLC12A6_ENST00000397702.2_Missense_Mutation_p.K775N|SLC12A6_ENST00000560164.1_Missense_Mutation_p.K646N			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	834					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CCTCTCTCAGCTTGGCGGCCA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	169	173			NA	NA	15		NA											NA				34531296		2201	4298	6499	SO:0001583	missense			AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199	9990	9990		Solute carriers	10914	protein-coding gene	gene with protein product		604878	agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)	KCC3, ACCPN	NA	10187864, 10347194	Standard	NM_005135	NM_133647	NA	Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.2502G>T	15.37:g.34531296C>A	ENSP00000346112:p.Lys834Asn	NA	Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	37	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	C	2.746	-0.261117	0.05791	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26;-3.26	4.97	-1.61	0.08399	.	0.000000	0.85682	D	0.000000	T	0.75591	0.3870	N	0.01729	-0.75	0.48395	D	0.999641	B;B;B;B	0.09022	0.001;0.002;0.0;0.001	B;B;B;B	0.12156	0.001;0.007;0.003;0.002	T	0.66324	-0.5952	10	0.02654	T	1	.	10.0645	0.42295	0.0:0.41:0.0:0.59	.	819;834;783;646	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	N	783;819;825;775;775;646	ENSP00000290209:K783N;ENSP00000380819:K819N;ENSP00000380814:K775N;ENSP00000387725:K775N;ENSP00000390199:K646N	ENSP00000290209:K783N	K	-	3	2	SLC12A6	32318588	0.337000	0.24766	0.989000	0.46669	0.988000	0.76386	-0.131000	0.10482	-0.133000	0.11537	-0.252000	0.11476	AAG	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417991.1		-	ENST00000354181.3	Missense_Mutation	SNP	15 : 34531296 - 34531296 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1332	215
NMT2	9397	broad.mit.edu	37	10	15174860	15174860	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15174860G>A	ENST00000378165.4	-	6	755	c.675C>T	c.(673-675)gtC>gtT	p.V225V	NMT2_ENST00000540259.1_Silent_p.V37V|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000535341.1_Silent_p.V212V|NMT2_ENST00000378150.1_Silent_p.V212V	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	225					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						TTATGAACCCGACCAGTTTTT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(117;1345 1645 4130 12688 30625)							NA				0													89	88	88			NA	NA	10		NA											NA				15174860		2203	4300	6503	SO:0001819	synonymous_variant			AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465	9397	9397			7858	protein-coding gene	gene with protein product		603801			NA	9506952	Standard	NM_004808	NM_004808	NA	Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.675C>T	10.37:g.15174860G>A		NA	B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	37	CCDS7109.1																																																																																			NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046958.2		-	ENST00000378165.4	Silent	SNP	10 : 15174860 - 15174860 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	597	64
IL10RA	3587	broad.mit.edu	37	11	117860269	117860269	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117860269C>T	ENST00000227752.3	+	3	421	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W	IL10RA_ENST00000545409.1_Intron|IL10RA_ENST00000541785.1_Missense_Mutation_p.R81W|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	101						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GGCCAGAGTGCGGGCTGTGGA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	65	69			NA	NA	11		NA											NA				117860269		2200	4296	6496	SO:0001583	missense			U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324	3587	3587		Interleukins and interleukin receptors, CD molecules	5964	protein-coding gene	gene with protein product		146933		IL10R	NA	8120391	Standard		NR_026691	NA	Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.301C>T	11.37:g.117860269C>T	ENSP00000227752:p.Arg101Trp	NA	A8K6I0|B0YJ27	37	CCDS8388.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018503	0.75275	.	.	ENSG00000110324	ENST00000227752;ENST00000541785;ENST00000536858	T;T	0.77489	-1.1;-1.1	4.95	3.98	0.46160	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.065623	0.64402	D	0.000007	D	0.86293	0.5898	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87381	0.2357	10	0.72032	D	0.01	-30.1496	12.4145	0.55486	0.1665:0.8335:0.0:0.0	.	81;101	F5GYV8;Q13651	.;I10R1_HUMAN	W	101;81;81	ENSP00000227752:R101W;ENSP00000441397:R81W	ENSP00000227752:R101W	R	+	1	2	IL10RA	117365479	0.998000	0.40836	0.997000	0.53966	0.013000	0.08279	0.814000	0.27239	2.461000	0.83175	0.563000	0.77884	CGG	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390167.1		+	ENST00000227752.3	Missense_Mutation	SNP	11 : 117860269 - 117860269 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	376	40
NOC2L	26155	broad.mit.edu	37	1	892589	892589	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:892589C>T	ENST00000327044.6	-	3	293	c.244G>A	c.(244-246)Gag>Aag	p.E82K	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	82						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TTGTAGAACTCGGGGTCTCTG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	74	72			NA	NA	1		NA											NA				892589		2203	4300	6503	SO:0001583	missense			AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976	26155	26155			24517	protein-coding gene	gene with protein product	novel INHAT repressor, protein phosphatase 1, regulatory subunit 12	610770			NA		Standard	NM_015658	NM_015658	NA	Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.244G>A	1.37:g.892589C>T	ENSP00000317992:p.Glu82Lys	NA	Q5SVA3|Q9BTN6	37	CCDS3.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401737	0.83120	.	.	ENSG00000188976	ENST00000327044	T	0.48201	0.82	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.71525	0.3350	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.976	T	0.77321	-0.2631	10	0.87932	D	0	-29.294	16.9781	0.86319	0.0:1.0:0.0:0.0	.	82;82	B3KNC3;Q9Y3T9	.;NOC2L_HUMAN	K	82	ENSP00000317992:E82K	ENSP00000317992:E82K	E	-	1	0	NOC2L	882452	1.000000	0.71417	0.940000	0.37924	0.980000	0.70556	7.297000	0.78799	2.254000	0.74563	0.558000	0.71614	GAG	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097869.1		-	ENST00000327044.6	Missense_Mutation	SNP	1 : 892589 - 892589 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	494	105
RHOBTB1	9886	broad.mit.edu	37	10	62648459	62648459	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:62648459G>A	ENST00000337910.5	-	6	1304	c.967C>T	c.(967-969)Cgg>Tgg	p.R323W	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.R323W	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	323	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					CTCAATATCCGCCCCTGGAAA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	60	58			NA	NA	10		NA											NA				62648459		2203	4299	6502	SO:0001583	missense			AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422	9886	9886		BTB/POZ domain containing	18738	protein-coding gene	gene with protein product		607351			NA	11222756	Standard		NM_014836	NA	Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.967C>T	10.37:g.62648459G>A	ENSP00000338671:p.Arg323Trp	NA		37	CCDS7261.1	.	.	.	.	.	.	.	.	.	.	G	4.703	0.130805	0.08981	.	.	ENSG00000072422	ENST00000357917;ENST00000337910	T;T	0.17528	2.27;2.27	5.91	2.84	0.33178	BTB/POZ-like (2);BTB/POZ fold (1);	0.903634	0.09537	N	0.788737	T	0.20251	0.0487	M	0.73962	2.25	0.09310	N	0.999995	B	0.16802	0.019	B	0.12837	0.008	T	0.29212	-1.0019	10	0.59425	D	0.04	.	4.6453	0.12568	0.1802:0.0:0.5467:0.2731	.	323	O94844	RHBT1_HUMAN	W	323	ENSP00000350595:R323W;ENSP00000338671:R323W	ENSP00000338671:R323W	R	-	1	2	RHOBTB1	62318465	0.000000	0.05858	0.007000	0.13788	0.012000	0.07955	0.103000	0.15292	0.859000	0.35456	-0.384000	0.06662	CGG	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048220.1		-	ENST00000337910.5	Missense_Mutation	SNP	10 : 62648459 - 62648459 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	606	47
EVX1	2128	broad.mit.edu	37	7	27283025	27283025	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27283025A>G	ENST00000496902.4	+	1	862	c.376A>G	c.(376-378)Agc>Ggc	p.S126G	EVX1_ENST00000535619.1_Intron|EVX1-AS_ENST00000519218.1_RNA|EVX1_ENST00000222761.3_Intron|EVX1-AS_ENST00000517726.1_RNA			P49640	EVX1_HUMAN	even-skipped homeobox 1	126						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						AATCGAGGTGAGCTGCACCCC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	20	20			NA	NA	7		NA											NA				27283025		2193	4282	6475	SO:0001583	missense				CCDS5413.1	7p15.2	2012-03-09	2007-02-15		ENSG00000106038	ENSG00000106038	2128	2128		Homeoboxes / ANTP class : HOXL subclass	3506	protein-coding gene	gene with protein product		142996	eve, even-skipped homeobox homolog 1 (Drosophila)		NA	1684419	Standard		XM_005249640	NA	Approved		uc003szd.1	P49640	OTTHUMG00000023093	ENST00000496902.4:c.376A>G	7.37:g.27283025A>G	ENSP00000419266:p.Ser126Gly	NA	A4D199	37	CCDS5413.1	.	.	.	.	.	.	.	.	.	.	A	7.048	0.563897	0.13498	.	.	ENSG00000106038	ENST00000496902	D	0.91351	-2.83	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.88284	0.6395	M	0.71581	2.175	0.80722	D	1	B	0.16166	0.016	B	0.18561	0.022	T	0.83129	-0.0114	10	0.06099	T	0.92	-24.7788	15.3786	0.74633	1.0:0.0:0.0:0.0	.	126	P49640	EVX1_HUMAN	G	126	ENSP00000419266:S126G	ENSP00000419266:S126G	S	+	1	0	EVX1	27249550	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.797000	0.91882	2.038000	0.60285	0.459000	0.35465	AGC	EVX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358750.3		+	ENST00000496902.4	Missense_Mutation	SNP	7 : 27283025 - 27283025 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	224	15
SYNGR1	9145	broad.mit.edu	37	22	39770548	39770548	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39770548C>T	ENST00000216155.7	+	2	389	c.327C>T	c.(325-327)atC>atT	p.I109I	SYNGR1_ENST00000318801.4_Silent_p.I109I|SYNGR1_ENST00000328933.5_Silent_p.I109I|SYNGR1_ENST00000381535.4_Silent_p.I110I|SYNGR1_ENST00000406293.3_Silent_p.I109I					synaptogyrin 1	NA										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					TGTCCGACATCGGTGTCTCGG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	59	67			NA	NA	22		NA											NA				39770548		2203	4300	6503	SO:0001819	synonymous_variant			AJ002303	CCDS13989.1, CCDS13990.1, CCDS13991.1	22q13	2008-06-10			ENSG00000100321	ENSG00000100321	9145	9145			11498	protein-coding gene	gene with protein product		603925			NA	9760194, 10595519	Standard	NM_004711	NM_004711	NA	Approved			O43759	OTTHUMG00000030978	ENST00000216155.7:c.327C>T	22.37:g.39770548C>T		NA		37																																																																																				SYNGR1-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000259136.1		+	ENST00000216155.7	Silent	SNP	22 : 39770548 - 39770548 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	351	59
MON1A	84315	broad.mit.edu	37	3	49949310	49949310	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49949310G>A	ENST00000417270.1	-	4	979	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C	MON1A_ENST00000296473.3_Missense_Mutation_p.R185C|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000455683.2_Intron|MON1A_ENST00000483022.1_5'UTR			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	88							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CTGATCTGGCGCATGTCTGTA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	45	45			NA	NA	3		NA											NA				49949310		2203	4300	6503	SO:0001583	missense			AK074404	CCDS2808.2, CCDS46830.1	3p21.31	2013-08-21	2013-08-21		ENSG00000164077	ENSG00000164077	84315	84315			28207	protein-coding gene	gene with protein product		611464	MON1 homolog A (yeast)		NA	12477932	Standard	NM_032355	NM_032355	NA	Approved	MGC13272, SAND1	uc003cxz.3	Q86VX9	OTTHUMG00000156737	ENST00000417270.1:c.286C>T	3.37:g.49949310G>A	ENSP00000399613:p.Arg96Cys	NA	B2RDQ1|Q8NAV7|Q9BRF3	37		.	.	.	.	.	.	.	.	.	.	G	15.87	2.959600	0.53400	.	.	ENSG00000164077	ENST00000296473;ENST00000417270	.	.	.	5.39	4.48	0.54585	.	0.306900	0.36778	N	0.002413	T	0.34221	0.0890	L	0.36672	1.1	0.38329	D	0.943736	P	0.49635	0.926	B	0.39660	0.306	T	0.21965	-1.0230	8	.	.	.	-12.0067	10.1754	0.42935	0.0:0.2584:0.6243:0.1173	.	88	Q86VX9	MON1A_HUMAN	C	185;96	.	.	R	-	1	0	MON1A	49924314	1.000000	0.71417	1.000000	0.80357	0.386000	0.30323	3.524000	0.53495	2.517000	0.84864	0.561000	0.74099	CGC	MON1A-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000345538.2		-	ENST00000417270.1	Missense_Mutation	SNP	3 : 49949310 - 49949310 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	452	64
UBASH3B	84959	broad.mit.edu	37	11	122671895	122671895	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122671895G>T	ENST00000284273.5	+	11	1825		c.e11-1			NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	NA						cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		TTACCCCTAAGGTTTACAACA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	93	93			NA	NA	11		NA											NA				122671895		2202	4299	6501	SO:0001630	splice_region_variant			AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127	84959	84959			29884	protein-coding gene	gene with protein product	SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate	609201			NA	11853319, 12370296	Standard	NM_032873	NM_032873	NA	Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1451-1G>T	11.37:g.122671895G>T		NA	Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	37	CCDS31694.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120793	0.77436	.	.	ENSG00000154127	ENST00000284273	.	.	.	5.47	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7391	0.62836	0.0747:0.0:0.9253:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UBASH3B	122177105	1.000000	0.71417	0.986000	0.45419	0.966000	0.64601	9.447000	0.97595	1.289000	0.44618	0.655000	0.94253	.	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387499.1	Intron	+	ENST00000284273.5	Splice_Site	SNP	11 : 122671895 - 122671895 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	520	16
ARHGAP32	9743	broad.mit.edu	37	11	128839523	128839523	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128839523G>A	ENST00000392657.3	-	13	4874	c.4496C>T	c.(4495-4497)aCg>aTg	p.T1499M	ARHGAP32_ENST00000310343.9_Missense_Mutation_p.T1848M|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.T1499M	NM_014715.3	NP_055530.2	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1848	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CTCCGGCTGCGTGCTACCATG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	55	57			NA	NA	11		NA											NA				128839523		2201	4297	6498	SO:0001583	missense			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909	9743	9743		Rho GTPase activating proteins	17399	protein-coding gene	gene with protein product		608541			NA	12446789, 12819203, 17663722	Standard	NM_014715	NM_014715	NA	Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000392657.3:c.4496C>T	11.37:g.128839523G>A	ENSP00000376425:p.Thr1499Met	NA	O94820|Q86YL6|Q8IUG4|Q9BWG3	37	CCDS31718.1	.	.	.	.	.	.	.	.	.	.	G	3.429	-0.116592	0.06838	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.08720	3.06;3.06;3.06	6.07	-0.14	0.13456	.	0.721795	0.13291	N	0.399017	T	0.02571	0.0078	N	0.08118	0	0.09310	N	1	P	0.40000	0.698	B	0.26310	0.068	T	0.40757	-0.9546	10	0.49607	T	0.09	.	2.2666	0.04080	0.2839:0.4168:0.1589:0.1404	.	1848	A7KAX9	RHG32_HUMAN	M	1848;1499;1499	ENSP00000310561:T1848M;ENSP00000376425:T1499M;ENSP00000432862:T1499M	ENSP00000310561:T1848M	T	-	2	0	ARHGAP32	128344733	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.729000	0.26028	-0.262000	0.09392	0.655000	0.94253	ACG	ARHGAP32-006	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386249.1		-	ENST00000392657.3	Missense_Mutation	SNP	11 : 128839523 - 128839523 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	66
ARHGEF10L	55160	broad.mit.edu	37	1	18023551	18023551	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18023551C>T	ENST00000361221.3	+	29	3675	c.3516C>T	c.(3514-3516)ctC>ctT	p.L1172L	ARHGEF10L_ENST00000375408.3_Silent_p.L945L|ARHGEF10L_ENST00000375415.1_Silent_p.L1133L|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Silent_p.L875L|ARHGEF10L_ENST00000452522.1_Silent_p.L1133L	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1172					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AGGGCATCCTCTTGCAGTACC	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	21	21			NA	NA	1		NA											NA				18023551		2195	4295	6490	SO:0001819	synonymous_variant			AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964	55160	55160		Rho guanine nucleotide exchange factors	25540	protein-coding gene	gene with protein product	GrinchGEF	612494			NA	10997877, 16112081	Standard	NM_018125	XM_005245923	NA	Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.3516C>T	1.37:g.18023551C>T		NA	B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	37	CCDS182.1																																																																																			ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007147.1		+	ENST00000361221.3	Silent	SNP	1 : 18023551 - 18023551 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	119	32
PHF15	0	broad.mit.edu	37	5	133896555	133896555	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133896555G>A	ENST00000402835.1	+	6	847	c.592G>A	c.(592-594)Gag>Aag	p.E198K	PHF15_ENST00000395003.1_Missense_Mutation_p.E198K|PHF15_ENST00000282605.4_Missense_Mutation_p.E198K|PHF15_ENST00000361895.2_Missense_Mutation_p.E198K			Q9NQC1	JADE2_HUMAN		198					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGAGTACGACGAGGATGTTGT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													220	169	186			NA	NA	5		NA											NA				133896555		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000402835.1:c.592G>A	5.37:g.133896555G>A	ENSP00000384671:p.Glu198Lys	NA	Q6IE80|Q8TEK0|Q92513|Q96GQ6	37		.	.	.	.	.	.	.	.	.	.	G	26.4	4.738249	0.89573	.	.	ENSG00000043143	ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000402835;ENST00000395003;ENST00000431355	D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32	5.97	5.97	0.96955	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.93543	0.7939	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.77004	0.986;0.989;0.986;0.982;0.986	D	0.93487	0.6832	10	0.87932	D	0	.	19.4161	0.94700	0.0:0.0:1.0:0.0	.	198;198;198;198;214	Q9NQC1;B5MBX1;D3DQA3;Q9NQC1-3;B3KPL2	JADE2_HUMAN;.;.;.;.	K	198;214;198;198;198;198;198;198	ENSP00000282605:E198K;ENSP00000354425:E198K;ENSP00000384671:E198K;ENSP00000378451:E198K;ENSP00000406189:E198K	ENSP00000282605:E198K	E	+	1	0	PHF15	133924454	1.000000	0.71417	0.969000	0.41365	0.032000	0.12392	9.869000	0.99810	2.837000	0.97791	0.655000	0.94253	GAG	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000318543.1		+	ENST00000402835.1	Missense_Mutation	SNP	5 : 133896555 - 133896555 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	357	51
MROH8	140699	broad.mit.edu	37	20	35731106	35731106	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35731106C>T	ENST00000466091.1	-	0	242				MROH8_ENST00000441008.2_3'UTR|MROH8_ENST00000400441.3_Missense_Mutation_p.G1038D|MROH8_ENST00000217333.8_Missense_Mutation_p.G867D					maestro heat-like repeat family member 8	NA											NA						AGAGGACCTGCCCATGAGCTT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													257	248	251			NA	NA	20		NA											NA				35731106		1991	4165	6156	SO:0001623	5_prime_UTR_variant			AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353	140699	140699		maestro heat-like repeat containing	16125	protein-coding gene	gene with protein product	hypothetical protein LOC140699		chromosome 20 open reading frame 131, chromosome 20 open reading frame 132	C20orf131, C20orf132	NA	11780052, 15635413	Standard	NM_152503	NM_152503	NA	Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000466091.1:c.-229G>A	20.37:g.35731106C>T		NA		37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.23|13.23	2.175221|2.175221	0.38413|0.38413	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000343811|ENST00000400441;ENST00000217333	.|T;T	.|0.04234	.|4.07;3.67	5.32|5.32	0.312|0.312	0.15837|0.15837	.|.	.|0.878430	.|0.09964	.|N	.|0.733062	T|T	0.04452|0.04452	0.0122|0.0122	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	.|B;B	.|0.32829	.|0.267;0.386	.|B;B	.|0.30495	.|0.054;0.116	T|T	0.40459|0.40459	-0.9562|-0.9562	5|10	.|0.48119	.|T	.|0.1	-0.0213|-0.0213	4.2003|4.2003	0.10462|0.10462	0.316:0.4853:0.0:0.1987|0.316:0.4853:0.0:0.1987	.|.	.|1038;872	.|E7ETR9;Q9H579-2	.|.;.	T|D	1065|1038;867	.|ENSP00000383291:G1038D;ENSP00000217333:G867D	.|ENSP00000217333:G867D	A|G	-|-	1|2	0|0	C20orf132|C20orf132	35164520|35164520	0.013000|0.013000	0.17824|0.17824	0.087000|0.087000	0.20705|0.20705	0.252000|0.252000	0.25951|0.25951	0.105000|0.105000	0.15333|0.15333	0.174000|0.174000	0.19809|0.19809	0.555000|0.555000	0.69702|0.69702	GCA|GGC	MROH8-005	KNOWN	basic	processed_transcript	NA	protein_coding	OTTHUMT00000079073.1		-	ENST00000466091.1	5'UTR	SNP	20 : 35731106 - 35731106 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1359	306
SPATA31D1	389763	broad.mit.edu	37	9	84605879	84605879	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:84605879C>T	ENST00000344803.2	+	4	541	c.494C>T	c.(493-495)gCg>gTg	p.A165V		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1	NA											NA						TCGGCTTCTGCGACTGAGTCA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	119	120			NA	NA	9		NA											NA				84605879		2007	4168	6175	SO:0001583	missense				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929	389763	389763			37283	protein-coding gene	gene with protein product			family with sequence similarity 75, member D1	FAM75D1	NA		Standard	NM_001001670	NM_001001670	NA	Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.494C>T	9.37:g.84605879C>T	ENSP00000341988:p.Ala165Val	NA		37	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	c	0.012	-1.663843	0.00772	.	.	ENSG00000214929	ENST00000344803	T	0.03982	3.74	2.8	-1.13	0.09775	.	2.086360	0.02128	N	0.056144	T	0.01800	0.0057	N	0.02539	-0.55	0.09310	N	1	B	0.18968	0.032	B	0.06405	0.002	T	0.37079	-0.9721	10	0.06757	T	0.87	-1.3739	2.9947	0.05994	0.0:0.285:0.235:0.48	.	165	Q6ZQQ2	F75D1_HUMAN	V	165	ENSP00000341988:A165V	ENSP00000341988:A165V	A	+	2	0	FAM75D1	83795699	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.925000	0.03992	-0.203000	0.10251	-1.409000	0.01127	GCG	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402325.1		+	ENST00000344803.2	Missense_Mutation	SNP	9 : 84605879 - 84605879 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	11
COL12A1	1303	broad.mit.edu	37	6	75839891	75839891	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:75839891C>T	ENST00000322507.8	-	37	6435	c.6126G>A	c.(6124-6126)tcG>tcA	p.S2042S	COL12A1_ENST00000416123.2_Silent_p.S2042S|COL12A1_ENST00000483888.2_Silent_p.S2042S|COL12A1_ENST00000345356.6_Silent_p.S878S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2042	Fibronectin type-III 16.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCCAGGCTACCGAGAGGCTAT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	124	125			NA	NA	6		NA											NA				75839891		1896	4122	6018	SO:0001819	synonymous_variant			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799	1303	1303		Proteoglycans / Extracellular Matrix : Collagen proteoglycans, Collagens, Fibronectin type III domain containing	2188	protein-coding gene	gene with protein product	collagen type XII proteoglycan	120320	collagen, type XII, alpha 1-like	COL12A1L	NA	9143499	Standard	NM_004370	XM_006715334	NA	Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.6126G>A	6.37:g.75839891C>T		NA	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	37	CCDS43482.1																																																																																			COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041249.3		-	ENST00000322507.8	Silent	SNP	6 : 75839891 - 75839891 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	367	62
TSHZ2	128553	broad.mit.edu	37	20	51870871	51870871	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:51870871G>A	ENST00000371497.5	+	2	1761	c.874G>A	c.(874-876)Gtc>Atc	p.V292I	TSHZ2_ENST00000603338.2_Missense_Mutation_p.V289I|TSHZ2_ENST00000329613.6_Missense_Mutation_p.V289I	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	292					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGATTTGAGCGTCCACATGAT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	61	63			NA	NA	20		NA											NA				51870871		2203	4300	6503	SO:0001583	missense			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463	128553	128553		Teashirt zinc fingers, Homeoboxes / ZF class, Zinc fingers, C2H2-type	13010	protein-coding gene	gene with protein product		614118	chromosome 20 open reading frame 17, zinc finger protein 218, teashirt family zinc finger 2	C20orf17, ZNF218	NA	9671742	Standard	NM_173485	NM_173485	NA	Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.874G>A	20.37:g.51870871G>A	ENSP00000360552:p.Val292Ile	NA	Q4VXM4|Q6N003|Q8N260	37	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637790	0.87760	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.41758	0.99;0.99	5.36	5.36	0.76844	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.61986	0.2391	L	0.54323	1.7	0.80722	D	1	D	0.58620	0.983	D	0.70935	0.971	T	0.62599	-0.6820	10	0.66056	D	0.02	-3.0281	19.4463	0.94849	0.0:0.0:1.0:0.0	.	292	Q9NRE2	TSH2_HUMAN	I	292;289	ENSP00000360552:V292I;ENSP00000333114:V289I	ENSP00000333114:V289I	V	+	1	0	TSHZ2	51304278	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.414000	0.97362	2.663000	0.90544	0.549000	0.68633	GTC	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080398.6		+	ENST00000371497.5	Missense_Mutation	SNP	20 : 51870871 - 51870871 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	59
HERC2	8924	broad.mit.edu	37	15	28446601	28446601	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28446601C>T	ENST00000261609.7	-	48	7825		c.e48+1			NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	NA					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAATTACTCACCTGAATATTC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	89	92			NA	NA	15		NA											NA				28446601		2203	4299	6502	SO:0001630	splice_region_variant			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731	8924	8924			4868	protein-coding gene	gene with protein product		605837	hect domain and RLD 2		NA	9949213	Standard	NM_004667	NM_004667	NA	Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.7716+1G>A	15.37:g.28446601C>T		NA	Q86SV7|Q86SV8|Q86SV9|Q86YY3|Q86YY4|Q86YY5|Q86YY6|Q86YY7|Q86YY8|Q86YY9|Q86YZ0|Q86YZ1	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	-	23.4	4.411424	0.83340	.	.	ENSG00000128731	ENST00000261609	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6662	0.91491	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HERC2	26120196	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.629000	0.83207	2.577000	0.86979	0.561000	0.74099	.	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251358.2	Intron	-	ENST00000261609.7	Splice_Site	SNP	15 : 28446601 - 28446601 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	423	78
GAK	2580	broad.mit.edu	37	4	860197	860197	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:860197G>A	ENST00000314167.4	-	22	3108	c.2998C>T	c.(2998-3000)Cac>Tac	p.H1000Y	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.H921Y	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1000					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGAGCACTGTGGGCAGACGGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	76	78			NA	NA	4		NA											NA				860197		2203	4300	6503	SO:0001583	missense			D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950	2580	2580		Heat shock proteins / DNAJ (HSP40)	4113	protein-coding gene	gene with protein product	auxilin-2	602052			NA	9299234	Standard	NM_005255	NM_005255	NA	Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.2998C>T	4.37:g.860197G>A	ENSP00000314499:p.His1000Tyr	NA	Q9BVY6	37	CCDS3340.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.229|3.229	-0.157847|-0.157847	0.06544|0.06544	.|.	.|.	ENSG00000178950|ENSG00000178950	ENST00000398567;ENST00000314167;ENST00000511163|ENST00000510799	T;T|.	0.78126|.	-0.7;-1.15|.	5.24|5.24	4.38|4.38	0.52667|0.52667	.|.	0.243165|.	0.40908|.	D|.	0.000991|.	T|T	0.63931|0.63931	0.2553|0.2553	L|L	0.60455|0.60455	1.87|1.87	0.38800|0.38800	D|D	0.955176|0.955176	B;P;B;B|.	0.40578|.	0.262;0.722;0.161;0.263|.	B;B;B;B|.	0.33454|.	0.147;0.164;0.104;0.067|.	T|T	0.64753|0.64753	-0.6333|-0.6333	10|5	0.49607|.	T|.	0.09|.	-30.6063|-30.6063	12.7363|12.7363	0.57225|0.57225	0.0:0.0:0.8341:0.1659|0.0:0.0:0.8341:0.1659	.|.	902;921;1000;885|.	B4DS37;E9PGR2;O14976;Q59HA5|.	.;.;GAK_HUMAN;.|.	Y|L	276;1000;921|119	ENSP00000314499:H1000Y;ENSP00000421361:H921Y|.	ENSP00000314499:H1000Y|.	H|P	-|-	1|2	0|0	GAK|GAK	850197|850197	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.033000|0.033000	0.12548|0.12548	3.085000|3.085000	0.50151|0.50151	1.162000|1.162000	0.42619|0.42619	0.561000|0.561000	0.74099|0.74099	CAC|CCA	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239188.1		-	ENST00000314167.4	Missense_Mutation	SNP	4 : 860197 - 860197 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	367	57
UHRF2	115426	broad.mit.edu	37	9	6477759	6477759	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6477759A>G	ENST00000276893.5	+	6	1279	c.1111A>G	c.(1111-1113)Att>Gtt	p.I371V		NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	371					cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		GGCTTATCATATTTACTGTCT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													204	182	189			NA	NA	9		NA											NA				6477759		2203	4300	6503	SO:0001583	missense			AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854	115426	115426		RING-type (C3HC4) zinc fingers, Zinc fingers, PHD-type	12557	protein-coding gene	gene with protein product	Np95-like ring finger protein	615211	ubiquitin-like with PHD and ring finger domains 2		NA	12176013	Standard	NM_152306	NM_152896	NA	Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.1111A>G	9.37:g.6477759A>G	ENSP00000276893:p.Ile371Val	NA	Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	37	CCDS6469.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.973270	0.74246	.	.	ENSG00000147854	ENST00000276893	T	0.56941	0.43	4.69	3.55	0.40652	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.056525	0.64402	N	0.000002	T	0.60958	0.2309	M	0.64997	1.995	0.80722	D	1	B;P	0.46859	0.418;0.885	B;P	0.55222	0.326;0.771	T	0.59306	-0.7479	10	0.48119	T	0.1	-8.4574	10.0363	0.42131	0.92:0.0:0.08:0.0	.	148;371	B3KV82;Q96PU4	.;UHRF2_HUMAN	V	371	ENSP00000276893:I371V	ENSP00000276893:I371V	I	+	1	0	UHRF2	6467759	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.352000	0.79404	0.676000	0.31285	-0.333000	0.08304	ATT	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051665.3		+	ENST00000276893.5	Missense_Mutation	SNP	9 : 6477759 - 6477759 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	558	29
ZNF709	163051	broad.mit.edu	37	19	12576512	12576512	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12576512T>G	ENST00000397732.3	-	4	395	c.224A>C	c.(223-225)gAa>gCa	p.E75A	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.E75A	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTGACTACCTTCTTTCCTTTC	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(33;565 669 12371 29134 51667)							NA				0													88	72	77			NA	NA	19		NA											NA				12576512		1838	4099	5937	SO:0001583	missense			AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852	163051	163051		Zinc fingers, C2H2-type, -	20629	protein-coding gene	gene with protein product					NA		Standard	NM_152601	NM_152601	NA	Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.224A>C	19.37:g.12576512T>G	ENSP00000380840:p.Glu75Ala	NA		37	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.178007	0.57692	.	.	ENSG00000242852;ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000455490;ENST00000428311	T;T;T	0.05855	3.38;5.1;3.38	2.81	2.81	0.32909	Krueppel-associated box (1);	1.016590	0.07923	N	0.976251	T	0.10423	0.0255	L	0.57536	1.79	0.24101	N	0.99588	P	0.52316	0.952	B	0.43950	0.437	T	0.28713	-1.0035	10	0.62326	D	0.03	.	9.3748	0.38277	0.0:0.0:0.0:1.0	.	75	Q8N972	ZN709_HUMAN	A	75;104;75	ENSP00000380840:E75A;ENSP00000398085:E104A;ENSP00000404127:E75A	ENSP00000404127:E75A	E	-	2	0	ZNF709;CTD-2192J16.17	12437512	0.007000	0.16637	0.633000	0.29310	0.263000	0.26337	1.824000	0.39072	1.542000	0.49330	0.260000	0.18958	GAA	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344088.1		-	ENST00000397732.3	Missense_Mutation	SNP	19 : 12576512 - 12576512 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	208	48
SLC6A17	388662	broad.mit.edu	37	1	110741029	110741029	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110741029G>A	ENST00000331565.4	+	12	2632	c.2147G>A	c.(2146-2148)gGc>gAc	p.G716D		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	716					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TATGGGAGCGGCTACCTGCTG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	64	64			NA	NA	1		NA											NA				110741029		2203	4300	6503	SO:0001583	missense				CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106	388662	388662		Solute carriers	31399	protein-coding gene	gene with protein product		610299	solute carrier family 6 (neurotransmitter transporter), member 17, solute carrier family 6, member 17		NA		Standard	XM_371280	NM_001010898	NA	Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.2147G>A	1.37:g.110741029G>A	ENSP00000330199:p.Gly716Asp	NA	A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	37	CCDS30799.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511293	0.85389	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.75154	-0.91	4.51	4.51	0.55191	.	0.385030	0.26156	N	0.026015	T	0.78704	0.4325	L	0.52573	1.65	0.58432	D	0.999996	D	0.71674	0.998	D	0.65443	0.935	T	0.82145	-0.0602	10	0.87932	D	0	.	17.1979	0.86898	0.0:0.0:1.0:0.0	.	716	Q9H1V8	S6A17_HUMAN	D	716	ENSP00000330199:G716D	ENSP00000330199:G716D	G	+	2	0	SLC6A17	110542552	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	9.098000	0.94202	2.053000	0.61076	0.313000	0.20887	GGC	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032550.2		+	ENST00000331565.4	Missense_Mutation	SNP	1 : 110741029 - 110741029 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	612	68
STAG1	10274	broad.mit.edu	37	3	136087969	136087969	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136087969G>A	ENST00000236698.5	-	24	2792	c.2526C>T	c.(2524-2526)gaC>gaT	p.D842D	STAG1_ENST00000536929.1_Silent_p.D426D|STAG1_ENST00000434713.2_Silent_p.D616D|STAG1_ENST00000383202.2_Silent_p.D842D			Q8WVM7	STAG1_HUMAN	stromal antigen 1	842					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GGTTCTCCTCGTCTTGGTCAA	0.413		NA											G	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	4e-04	0.95	EXOME	NA	NA	8e-04	SNP								NA				0								G		0,4406		0,0,2203	72	69	70		2526	0.4	1	3		70	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	STAG1	NM_005862.2		0,2,6500	AA,AG,GG	NA	0.0233,0.0,0.0154		842/1259	136087969	2,13002	2203	4299	6502	SO:0001819	synonymous_variant			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007	10274	10274			11354	protein-coding gene	gene with protein product		604358			NA	9305759	Standard	NM_005862	XM_006713471	NA	Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000236698.5:c.2526C>T	3.37:g.136087969G>A		NA	O00539	37																																																																																				STAG1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000357403.1		-	ENST00000236698.5	Silent	SNP	3 : 136087969 - 136087969 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	22
UBR4	23352	broad.mit.edu	37	1	19524267	19524267	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19524267G>T	ENST00000375254.3	-	7	817	c.790C>A	c.(790-792)Cca>Aca	p.P264T	UBR4_ENST00000375226.2_Missense_Mutation_p.P264T|UBR4_ENST00000375267.2_Missense_Mutation_p.P264T|UBR4_ENST00000375217.2_Missense_Mutation_p.P264T	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	264					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGGAAATATGGCAGGTTCAAA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	150	152			NA	NA	1		NA											NA				19524267		2203	4300	6503	SO:0001583	missense			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481	23352	23352		Ubiquitin protein ligase E3 component n-recognins	30313	protein-coding gene	gene with protein product		609890	zinc finger, UBR1 type 1	ZUBR1	NA	14702039, 10718198, 16055722	Standard	NM_020765	XM_005245802	NA	Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.790C>A	1.37:g.19524267G>T	ENSP00000364403:p.Pro264Thr	NA	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341787	0.81911	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.35605	1.33;1.33;1.3;1.31	5.8	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.34774	0.0909	L	0.50333	1.59	0.80722	D	1	B	0.27823	0.19	B	0.26310	0.068	T	0.20706	-1.0267	10	0.87932	D	0	.	13.4566	0.61201	0.0754:0.0:0.9246:0.0	.	264	Q5T4S7	UBR4_HUMAN	T	264	ENSP00000364403:P264T;ENSP00000364416:P264T;ENSP00000364365:P264T;ENSP00000364374:P264T	ENSP00000364365:P264T	P	-	1	0	UBR4	19396854	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.383000	0.73172	1.460000	0.47911	0.650000	0.86243	CCA	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007085.1		-	ENST00000375254.3	Missense_Mutation	SNP	1 : 19524267 - 19524267 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	775	35
AHSA2	130872	broad.mit.edu	37	2	61411915	61411915	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61411915C>A	ENST00000394457.3	+	3	1798	c.55C>A	c.(55-57)Ctg>Atg	p.L19M	AHSA2_ENST00000357022.2_Missense_Mutation_p.L19M|AHSA2_ENST00000489653.1_3'UTR|AHSA2_ENST00000410073.1_Missense_Mutation_p.L19M			Q719I0	AHSA2_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast)	NA					response to stress	cytoplasm	ATPase activator activity|chaperone binding			breast(1)|lung(3)|prostate(1)	5			Epithelial(17;0.0994)			CAAAAGAAAACTGAGTGGGAA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	67	67			NA	NA	2		NA											NA				61411915		2203	4300	6503	SO:0001583	missense			AK092817	CCDS1868.1	2p14	2008-02-05			ENSG00000173209	ENSG00000173209	130872	130872			20437	protein-coding gene	gene with protein product					NA	12504007	Standard	NM_152392	NM_152392	NA	Approved	DKFZp564C236, Hch1	uc002sbc.2	Q719I0	OTTHUMG00000129437	ENST00000394457.3:c.55C>A	2.37:g.61411915C>A	ENSP00000377970:p.Leu19Met	NA	B3KS51|D6W5E0|Q8NDU5	37	CCDS1868.1	.	.	.	.	.	.	.	.	.	.	.	10.69	1.421398	0.25639	.	.	ENSG00000173209	ENST00000357022;ENST00000394457;ENST00000430934;ENST00000410073	.	.	.	5.24	2.43	0.29744	.	0.269718	0.26457	N	0.024269	T	0.38480	0.1042	M	0.72118	2.19	0.23304	N	0.997946	P	0.42123	0.771	B	0.41088	0.347	T	0.18935	-1.0321	9	0.25751	T	0.34	-12.7862	6.7819	0.23650	0.0:0.6981:0.1443:0.1576	.	181	Q719I0	AHSA2_HUMAN	M	19;19;182;19	.	ENSP00000349525:L19M	L	+	1	2	AHSA2	61265419	0.020000	0.18652	0.979000	0.43373	0.112000	0.19704	-0.159000	0.10056	0.293000	0.22520	0.563000	0.77884	CTG	AHSA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251598.4		+	ENST00000394457.3	Missense_Mutation	SNP	2 : 61411915 - 61411915 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	467	109
PCBP1	5093	broad.mit.edu	37	2	70315305	70315305	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70315305C>T	ENST00000303577.5	+	1	721	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	144	KH 2.				nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						CTCCACCGAGCGGGCCATCAC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(85;1146 1307 3484 18706 25380)							NA				0													49	50	49			NA	NA	2		NA											NA				70315305		2203	4300	6503	SO:0001583	missense				CCDS1898.1	2p13-p12	2013-07-16	2001-11-28		ENSG00000169564	ENSG00000169564	5093	5093			8647	protein-coding gene	gene with protein product	heterogeneous nuclear ribonucleoprotein E1	601209	poly(rC)-binding protein 1		NA	8833161	Standard	NM_006196	NM_006196	NA	Approved	HNRPE1, hnRNP-E1, HNRPX, hnRNP-X	uc002sgf.3	Q15365	OTTHUMG00000129645	ENST00000303577.5:c.430C>T	2.37:g.70315305C>T	ENSP00000305556:p.Arg144Trp	NA	Q13157|Q14975	37	CCDS1898.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025764	0.35701	.	.	ENSG00000169564	ENST00000303577	T	0.36340	1.26	4.03	2.21	0.28008	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.64402	D	0.000001	T	0.49133	0.1539	M	0.91717	3.235	0.80722	D	1	P	0.40000	0.698	P	0.44394	0.448	T	0.54153	-0.8336	10	0.87932	D	0	.	7.5355	0.27708	0.0:0.7348:0.1689:0.0963	.	144	Q15365	PCBP1_HUMAN	W	144	ENSP00000305556:R144W	ENSP00000305556:R144W	R	+	1	2	PCBP1	70168809	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	0.719000	0.25881	0.660000	0.30964	0.650000	0.86243	CGG	PCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251844.1		+	ENST00000303577.5	Missense_Mutation	SNP	2 : 70315305 - 70315305 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	452	119
RORB	6096	broad.mit.edu	37	9	77245232	77245232	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77245232C>T	ENST00000376896.3	+	2	654	c.42C>T	c.(40-42)ggC>ggT	p.G14G	RORB_ENST00000396204.2_Silent_p.G25G	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	NA					eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						AAATTTGTGGCGATAAGTCCT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	131	141			NA	NA	9		NA											NA				77245232		2203	4300	6503	SO:0001819	synonymous_variant			Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963	6096	6096		Nuclear hormone receptors	10259	protein-coding gene	gene with protein product		601972			NA	7926749	Standard		NM_006914	NA	Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000376896.3:c.42C>T	9.37:g.77245232C>T		NA	Q8WX73	37	CCDS6646.1																																																																																			RORB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052692.2		+	ENST00000376896.3	Silent	SNP	9 : 77245232 - 77245232 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	350	57
KSR2	283455	broad.mit.edu	37	12	117914325	117914325	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117914325G>A	ENST00000339824.5	-	17	3253	c.2526C>T	c.(2524-2526)ccC>ccT	p.P842P	KSR2_ENST00000425217.1_Silent_p.P813P|KSR2_ENST00000302438.5_3'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	842	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTCTGTGTCGGGGGACAGCT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4106		0,0,2053	62	74	70		2439	-11.6	0.2	12		70	2,8406		0,2,4202	no	coding-synonymous	KSR2	NM_173598.4		0,2,6255	AA,AG,GG	NA	0.0238,0.0,0.016		813/922	117914325	2,12512	2053	4204	6257	SO:0001819	synonymous_variant			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435	283455	283455			18610	protein-coding gene	gene with protein product		610737			NA	12471243	Standard	NM_173598	NM_173598	NA	Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.2526C>T	12.37:g.117914325G>A		NA	A0PJT2|Q3B828|Q8N775	37																																																																																				KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000401987.2		-	ENST00000339824.5	Silent	SNP	12 : 117914325 - 117914325 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	58	16
BPIFA1	51297	broad.mit.edu	37	20	31825910	31825910	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31825910C>A	ENST00000354297.4	+	3	281	c.210C>A	c.(208-210)aaC>aaA	p.N70K	BPIFA1_ENST00000375422.2_Missense_Mutation_p.N70K|BPIFA1_ENST00000375413.4_Missense_Mutation_p.N70K	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN	BPI fold containing family A, member 1	70					innate immune response	extracellular region	lipid binding				NA						TTCTGGAAAACCTTCCGCTCC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	63	63			NA	NA	20		NA											NA				31825910		2203	4300	6503	SO:0001583	missense			AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183	51297	51297		BPI fold containing	15749	protein-coding gene	gene with protein product		607412	palate, lung and nasal epithelium carcinoma associated, palate, lung and nasal epithelium associated	PLUNC	NA	11018263, 11251963, 21787333	Standard	NM_130852	NM_130852	NA	Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	ENST00000354297.4:c.210C>A	20.37:g.31825910C>A	ENSP00000346251:p.Asn70Lys	NA	A8K9R3|E1P5M9|Q9NZT0	37	CCDS13217.1	.	.	.	.	.	.	.	.	.	.	C	1.763	-0.486228	0.04352	.	.	ENSG00000198183	ENST00000375422;ENST00000354297;ENST00000375413;ENST00000544328	T;T;T	0.04917	3.53;3.53;3.53	5.43	0.147	0.14838	.	0.239859	0.37178	N	0.002212	T	0.09158	0.0226	L	0.43757	1.38	0.09310	N	1	D	0.58620	0.983	P	0.55713	0.782	T	0.28522	-1.0041	10	0.19590	T	0.45	-3.8418	7.8487	0.29442	0.0:0.5526:0.0:0.4474	.	70	Q9NP55	BPIA1_HUMAN	K	70;70;70;56	ENSP00000364571:N70K;ENSP00000346251:N70K;ENSP00000364562:N70K	ENSP00000346251:N70K	N	+	3	2	BPIFA1	31289571	0.049000	0.20398	0.012000	0.15200	0.003000	0.03518	-0.606000	0.05654	0.126000	0.18424	-0.140000	0.14226	AAC	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078667.2		+	ENST00000354297.4	Missense_Mutation	SNP	20 : 31825910 - 31825910 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	341	64
ST6GALNAC6	30815	broad.mit.edu	37	9	130653219	130653219	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130653219C>T	ENST00000373142.1	-	5	573	c.401G>A	c.(400-402)cGc>cAc	p.R134H	ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000373141.1_Missense_Mutation_p.R100H|ST6GALNAC6_ENST00000373146.1_Missense_Mutation_p.R134H|ST6GALNAC6_ENST00000373144.3_Missense_Mutation_p.R100H|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.R134H	NM_013443.3	NP_038471.2	Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	134					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ATCATTCATGCGGATTGTACA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	85	89			NA	NA	9		NA											NA				130653219		2203	4300	6503	SO:0001583	missense			BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408	30815	30815		Sialyltransferases	23364	protein-coding gene	gene with protein product		610135	sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F	SIAT7F	NA	12668675	Standard	NM_013443	XM_005251952	NA	Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373142.1:c.401G>A	9.37:g.130653219C>T	ENSP00000362235:p.Arg134His	NA	B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	37		.	.	.	.	.	.	.	.	.	.	c	23.8	4.455743	0.84209	.	.	ENSG00000160408	ENST00000373146;ENST00000373141;ENST00000373142;ENST00000373144;ENST00000291839;ENST00000447681	T;T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34;-0.34	5.71	4.81	0.61882	.	0.049182	0.85682	D	0.000000	D	0.85557	0.5724	M	0.93763	3.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	D	0.89003	0.3423	10	0.87932	D	0	-20.5999	13.3597	0.60648	0.0:0.9233:0.0:0.0767	.	100;134	Q969X2-2;Q969X2	.;SIA7F_HUMAN	H	134;100;134;100;134;100	ENSP00000362239:R134H;ENSP00000362234:R100H;ENSP00000362235:R134H;ENSP00000362237:R100H;ENSP00000291839:R134H;ENSP00000405326:R100H	ENSP00000291839:R134H	R	-	2	0	ST6GALNAC6	129693040	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	7.371000	0.79600	1.424000	0.47217	0.651000	0.88453	CGC	ST6GALNAC6-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000054277.1		-	ENST00000373142.1	Missense_Mutation	SNP	9 : 130653219 - 130653219 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	282	23
GGTLC2	91227	broad.mit.edu	37	22	22989491	22989491	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:22989491G>A	ENST00000448514.1	+	3	343	c.343G>A	c.(343-345)Gtg>Atg	p.V115M	GGTLC2_ENST00000480559.1_Missense_Mutation_p.V115M			Q14390	GGTL2_HUMAN	gamma-glutamyltransferase light chain 2	115					glutathione biosynthetic process		gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		GACGATCATGGTGGGCCAGGA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	68	65			NA	NA	22		NA											NA				22989491		2203	4298	6501	SO:0001583	missense			X98922	CCDS13802.2	22q11.21	2008-03-25	2008-03-10	2008-03-10	ENSG00000100121	ENSG00000100121	91227	91227		Gamma-glutamyltransferases	18596	protein-coding gene	gene with protein product		612339	gamma-glutamyltransferase-like 4	GGTL4	NA	9074928, 18357469	Standard	NM_199127	NM_199127	NA	Approved		uc010gtt.2	Q14390	OTTHUMG00000151177	ENST00000448514.1:c.343G>A	22.37:g.22989491G>A	ENSP00000415676:p.Val115Met	NA	A1A516|A2VCM9|Q5NV76|Q6ISH0	37	CCDS13802.2	.	.	.	.	.	.	.	.	.	.	g	9.519	1.107886	0.20714	.	.	ENSG00000100121	ENST00000480559;ENST00000448514	T;T	0.06849	3.25;3.25	.	.	.	.	0.211609	0.40818	N	0.001017	T	0.09335	0.0230	L	0.51853	1.615	0.26742	N	0.970369	P;P	0.41848	0.763;0.763	P;P	0.46208	0.507;0.507	T	0.12372	-1.0550	9	0.45353	T	0.12	-36.1029	3.5811	0.07954	2.0E-4:0.4998:0.4998:2.0E-4	.	115;115	Q14390;B7WND7	GGTL2_HUMAN;.	M	115	ENSP00000419751:V115M;ENSP00000415676:V115M	ENSP00000415676:V115M	V	+	1	0	GGTLC2	21319491	0.908000	0.30866	0.000000	0.03702	0.000000	0.00434	0.392000	0.20801	-0.000000	0.14550	0.000000	0.15137	GTG	GGTLC2-003	KNOWN	non_canonical_polymorphism|not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335009.1		+	ENST00000448514.1	Missense_Mutation	SNP	22 : 22989491 - 22989491 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	866	65
CCDC129	223075	broad.mit.edu	37	7	31682312	31682312	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31682312A>C	ENST00000409210.1	+	9	1236	c.1052A>C	c.(1051-1053)aAc>aCc	p.N351T	CCDC129_ENST00000451887.2_Missense_Mutation_p.N469T|CCDC129_ENST00000407970.3_Missense_Mutation_p.N443T|CCDC129_ENST00000319386.3_Missense_Mutation_p.N295T			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	443										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TCCTTGCCAAACAGCCAGAGT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	50	52			NA	NA	7		NA											NA				31682312		2203	4300	6503	SO:0001583	missense			AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347	223075	223075			27363	protein-coding gene	gene with protein product					NA	14702039	Standard	NM_194300	NM_001257967	NA	Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000409210.1:c.1052A>C	7.37:g.31682312A>C	ENSP00000387214:p.Asn351Thr	NA	A2RU17|B3KTI9|B4E2R1	37		.	.	.	.	.	.	.	.	.	.	A	7.414	0.635297	0.14322	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.17528	2.38;2.53;2.52;2.27	5.85	1.76	0.24704	.	0.781097	0.12237	N	0.486848	T	0.06234	0.0161	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.14012	0.002;0.0;0.0;0.009	B;B;B;B	0.15870	0.004;0.001;0.001;0.014	T	0.43702	-0.9375	10	0.12766	T	0.61	-6.1587	6.3356	0.21294	0.2524:0.1471:0.6005:0.0	.	469;453;443;295	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	T	295;443;469;453;351	ENSP00000313062:N295T;ENSP00000384416:N443T;ENSP00000395835:N469T;ENSP00000387214:N351T	ENSP00000313062:N295T	N	+	2	0	CCDC129	31648837	0.016000	0.18221	0.194000	0.23346	0.007000	0.05969	0.518000	0.22847	0.405000	0.25532	-0.987000	0.02553	AAC	CCDC129-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000328240.2		+	ENST00000409210.1	Missense_Mutation	SNP	7 : 31682312 - 31682312 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	223	35
MUC5B	727897	broad.mit.edu	37	11	1258188	1258188	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1258188G>A	ENST00000529681.1	+	25	3149	c.3091G>A	c.(3091-3093)Gac>Aac	p.D1031N	MUC5B_ENST00000447027.1_Missense_Mutation_p.D1034N	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1031	VWFD 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GAACTTCGACGACAATGCCAT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	38	35			NA	NA	11		NA											NA				1258188		2133	4228	6361	SO:0001583	missense			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983	727897	727897		Mucins	7516	protein-coding gene	gene with protein product		600770	mucin 5, subtype B, tracheobronchial	MUC5	NA	9804771	Standard	XM_001126093	NM_002458	NA	Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.3091G>A	11.37:g.1258188G>A	ENSP00000436812:p.Asp1031Asn	NA	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	11.40	1.626650	0.28978	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.57595	0.39;0.39	4.38	3.47	0.39725	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.42988	0.1227	L	0.41710	1.295	0.32694	N	0.513784	P;B;P	0.46142	0.873;0.26;0.5	B;B;B	0.38296	0.27;0.057;0.155	T	0.57734	-0.7760	9	0.87932	D	0	.	12.4879	0.55883	0.0825:0.0:0.9175:0.0	.	1031;1724;1034	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	N	1031;1034;1032;1101	ENSP00000436812:D1031N;ENSP00000415793:D1034N	ENSP00000343037:D1032N	D	+	1	0	MUC5B	1214764	1.000000	0.71417	0.805000	0.32314	0.093000	0.18481	4.749000	0.62155	0.834000	0.34852	-0.368000	0.07277	GAC	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390041.2		+	ENST00000529681.1	Missense_Mutation	SNP	11 : 1258188 - 1258188 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	94	18
DIDO1	11083	broad.mit.edu	37	20	61512121	61512121	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61512121G>A	ENST00000266070.4	-	16	5512	c.5187C>T	c.(5185-5187)ccC>ccT	p.P1729P	DIDO1_ENST00000395343.1_Silent_p.P1729P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1729	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGCCCTCGCCGGGTCTGGCCT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)							NA				0													56	68	64			NA	NA	20		NA											NA				61512121		2203	4297	6500	SO:0001819	synonymous_variant			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191	11083	11083		Zinc fingers, PHD-type	2680	protein-coding gene	gene with protein product		604140	chromosome 20 open reading frame 158, death associated transcription factor 1	C20orf158, DATF1	NA	10393935	Standard	NM_080796	NM_033081	NA	Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5187C>T	20.37:g.61512121G>A		NA	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	37	CCDS33506.1																																																																																			DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080091.2		-	ENST00000266070.4	Silent	SNP	20 : 61512121 - 61512121 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	827	167
ISM1	140862	broad.mit.edu	37	20	13279702	13279702	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13279702G>A	ENST00000262487.4	+	6	997	c.991G>A	c.(991-993)Gcc>Acc	p.A331T	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	NA	AMOP.					extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CACTGAGGTGGCCTACAGCAC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	53	51			NA	NA	20		NA											NA				13279702		2120	4239	6359	SO:0001583	missense			AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230	140862	140862			16213	protein-coding gene	gene with protein product		615793	chromosome 20 open reading frame 82, isthmin 1 homolog (zebrafish)	C20orf82	NA		Standard		NM_080826	NA	Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.991G>A	20.37:g.13279702G>A	ENSP00000262487:p.Ala331Thr	NA	Q8WVH9	37	CCDS46579.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491755	0.84962	.	.	ENSG00000101230	ENST00000262487;ENST00000447521	T;T	0.48201	0.82;0.83	5.88	5.88	0.94601	AMOP (3);	0.000000	0.85682	D	0.000000	T	0.62780	0.2456	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61969	-0.6953	10	0.59425	D	0.04	-24.2273	20.2133	0.98290	0.0:0.0:1.0:0.0	.	331	B1AKI9	ISM1_HUMAN	T	331;285	ENSP00000262487:A331T;ENSP00000409938:A285T	ENSP00000262487:A331T	A	+	1	0	ISM1	13227702	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	9.822000	0.99363	2.786000	0.95864	0.655000	0.94253	GCC	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078039.2		+	ENST00000262487.4	Missense_Mutation	SNP	20 : 13279702 - 13279702 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	148	35
ONECUT2	9480	broad.mit.edu	37	18	55103370	55103370	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:55103370G>T	ENST00000491143.2	+	1	454	c.422G>T	c.(421-423)gGc>gTc	p.G141V		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	141					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		TCTCCGCCTGGCATGGGCATG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/GLY	0,4406		0,0,2203	47	52	50		422	2.3	1	18		50	1,8599	1.2+/-3.3	0,1,4299	no	missense	ONECUT2	NM_004852.2	109	0,1,6502	TT,TG,GG	NA	0.0116,0.0,0.0077	probably-damaging	141/505	55103370	1,13005	2203	4300	6503	SO:0001583	missense			Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547	9480	9480		Homeoboxes / CUT class	8139	protein-coding gene	gene with protein product		604894	one cut domain, family member 2		NA	9915796	Standard		NM_004852	NA	Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.422G>T	18.37:g.55103370G>T	ENSP00000419185:p.Gly141Val	NA		37	CCDS42440.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265483	0.59431	0.0	1.16E-4	ENSG00000119547	ENST00000491143;ENST00000262095	.	.	.	2.34	2.34	0.29019	.	0.000000	0.48286	U	0.000194	T	0.75568	0.3867	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.78107	-0.2333	9	0.72032	D	0.01	.	11.3876	0.49796	0.0:0.0:1.0:0.0	.	141	O95948	ONEC2_HUMAN	V	122;141	.	ENSP00000262095:G141V	G	+	2	0	ONECUT2	53254368	1.000000	0.71417	0.997000	0.53966	0.926000	0.56050	8.680000	0.91225	1.133000	0.42147	0.305000	0.20034	GGC	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357264.3		+	ENST00000491143.2	Missense_Mutation	SNP	18 : 55103370 - 55103370 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	192	28
SRP68	6730	broad.mit.edu	37	17	74056448	74056448	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74056448G>A	ENST00000539137.1	-	6	679	c.664C>T	c.(664-666)Ctc>Ttc	p.L222F	SRP68_ENST00000307877.2_Missense_Mutation_p.L260F|SRP68_ENST00000355113.5_Missense_Mutation_p.L159F	NM_001260502.1	NP_001247431.1	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	260					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						ATCTGCATGAGTTCATTGATG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	83	83			NA	NA	17		NA											NA				74056448		2203	4300	6503	SO:0001583	missense			AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881	6730	6730			11302	protein-coding gene	gene with protein product		604858	signal recognition particle 68kD		NA	10618370	Standard	NM_014230	NM_014230	NA	Approved		uc002jqk.2	Q9UHB9		ENST00000539137.1:c.664C>T	17.37:g.74056448G>A	ENSP00000446136:p.Leu222Phe	NA	Q8NCJ4|Q8WUK2	37	CCDS58601.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710345	0.68730	.	.	ENSG00000167881	ENST00000539137;ENST00000540937;ENST00000307877;ENST00000355113	T;T;T	0.29917	1.55;1.55;1.55	5.23	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.50922	0.1644	M	0.74389	2.26	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.982	T	0.46884	-0.9159	10	0.42905	T	0.14	-17.7999	9.3472	0.38115	0.2081:0.0:0.7919:0.0	.	222;260	G3V1U4;Q9UHB9	.;SRP68_HUMAN	F	222;260;260;159	ENSP00000446136:L222F;ENSP00000312066:L260F;ENSP00000347233:L159F	ENSP00000312066:L260F	L	-	1	0	SRP68	71568043	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.475000	0.45162	2.601000	0.87937	0.467000	0.42956	CTC	SRP68-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449491.1		-	ENST00000539137.1	Missense_Mutation	SNP	17 : 74056448 - 74056448 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	38
ATP7A	538	broad.mit.edu	37	X	77244750	77244750	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77244750C>A	ENST00000341514.6	+	4	787	c.632C>A	c.(631-633)gCt>gAt	p.A211D	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.A211D	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	211	HMA 2.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AATCAAGAAGCTACTATTGTT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	36	35			NA	NA	X		NA											NA				77244750		2203	4293	6496	SO:0001583	missense			L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	538	538	3.6.3.4	ATPases / P-type	869	protein-coding gene	gene with protein product	copper pump 1, copper-transporting ATPase 1	300011	Menkes syndrome	MNK	NA	10079817	Standard	NM_000052	NM_000052	NA	Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.632C>A	X.37:g.77244750C>A	ENSP00000345728:p.Ala211Asp	NA	B1AT72|O00227|O00745|Q9BYY8	37	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	c	18.60	3.658389	0.67586	.	.	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000400860;ENST00000355691	D;D	0.87809	-2.3;-2.3	4.68	4.68	0.58851	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);	0.000000	0.85682	U	0.000000	D	0.96571	0.8881	H	0.99169	4.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98962	1.0798	10	0.87932	D	0	-4.844	17.0033	0.86386	0.0:1.0:0.0:0.0	.	211;221	Q04656;Q59HD1	ATP7A_HUMAN;.	D	211;211;211;221	ENSP00000343026:A211D;ENSP00000345728:A211D	ENSP00000345728:A211D	A	+	2	0	ATP7A	77131406	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.081000	0.71309	1.933000	0.56026	0.515000	0.50301	GCT	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057306.1		+	ENST00000341514.6	Missense_Mutation	SNP	X : 77244750 - 77244750 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	178	49
ARSH	347527	broad.mit.edu	37	X	2933300	2933300	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2933300C>A	ENST00000381130.2	+	4	630	c.630C>A	c.(628-630)tcC>tcA	p.S210S		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	210						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TTTTCACTTCCTGGTACTCTA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													189	126	148			NA	NA	X		NA											NA				2933300		2203	4300	6503	SO:0001819	synonymous_variant			AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667	347527	347527		Arylsulfatase family	32488	protein-coding gene	gene with protein product		300586	arylsulfatase H		NA	16174644	Standard	NM_001011719	NM_001011719	NA	Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.630C>A	X.37:g.2933300C>A		NA		37	CCDS35198.1																																																																																			ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356489.1		+	ENST00000381130.2	Silent	SNP	X : 2933300 - 2933300 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	131	56
KBTBD12	166348	broad.mit.edu	37	3	127646814	127646814	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127646814G>A	ENST00000407609.3	+	2	320	c.99G>A	c.(97-99)ttG>ttA	p.L33L	KBTBD12_ENST00000492025.1_Intron|KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000405256.1_Silent_p.L426L|KBTBD12_ENST00000405109.1_Silent_p.L426L			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	426	BTB.									endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CACTGCAATTGGCATGTCATG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	77	75			NA	NA	3		NA											NA				127646814		2195	4293	6488	SO:0001819	synonymous_variant				CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715	166348	166348		BTB/POZ domain containing	25731	protein-coding gene	gene with protein product			kelch domain containing 6	KLHDC6	NA		Standard	NM_207335	NM_207335	NA	Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000407609.3:c.99G>A	3.37:g.127646814G>A		NA	B5MCC6|Q6ZRK1	37																																																																																				KBTBD12-001	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000318677.1		+	ENST00000407609.3	Silent	SNP	3 : 127646814 - 127646814 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	316	62
PLD5	200150	broad.mit.edu	37	1	242253373	242253373	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242253373G>T	ENST00000536534.2	-	10	1635	c.1394C>A	c.(1393-1395)gCt>gAt	p.A465D	PLD5_ENST00000427495.1_Missense_Mutation_p.A403D|PLD5_ENST00000442594.2_Missense_Mutation_p.A373D			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)			GCCCGTGCCAGCATTCTGAGT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	125	127			NA	NA	1		NA											NA				242253373		2203	4300	6503	SO:0001583	missense			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.1394C>A	1.37:g.242253373G>T	ENSP00000440896:p.Ala465Asp	NA	A1KXV0|B7Z324|Q494U9|Q8NB22	37	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481388	0.44147	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.22134	1.97;1.97;1.97	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.54919	0.1888	M	0.89287	3.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.77557	0.99;0.976;0.982	T	0.61950	-0.6957	10	0.87932	D	0	-19.3676	17.7645	0.88473	0.0:0.0:1.0:0.0	.	373;465;403	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	D	403;373;465	ENSP00000401285:A403D;ENSP00000414188:A373D;ENSP00000440896:A465D	ENSP00000401285:A403D	A	-	2	0	PLD5	240319996	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	8.145000	0.89625	2.723000	0.93209	0.655000	0.94253	GCT	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397213.2		-	ENST00000536534.2	Missense_Mutation	SNP	1 : 242253373 - 242253373 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	761	157
GPR98	84059	broad.mit.edu	37	5	89938474	89938474	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:89938474G>A	ENST00000405460.2	+	12	2358	c.2262G>A	c.(2260-2262)gtG>gtA	p.V754V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	754					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAAACCAAGTGCTGAAATCTG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	119	118			NA	NA	5		NA											NA				89938474		1805	4076	5881	SO:0001819	synonymous_variant			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199	84059	84059		-, GPCR / Class B : Orphans	17416	protein-coding gene	gene with protein product		602851	monogenic, audiogenic seizure susceptibility 1 homolog (mouse)	USH2C, MASS1	NA	10976914, 14740321	Standard	NM_032119	NM_032119	NA	Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.2262G>A	5.37:g.89938474G>A		NA	O75171|Q8TF58|Q9H0X5|Q9UL61	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	8.008	0.756800	0.15846	.	.	ENSG00000164199	ENST00000504142	.	.	.	5.09	1.0	0.19881	.	.	.	.	.	T	0.42899	0.1223	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21793	-1.0235	4	.	.	.	.	2.1616	0.03826	0.2883:0.3898:0.2094:0.1125	.	.	.	.	T	343	.	.	A	+	1	0	GPR98	89974230	0.969000	0.33509	0.949000	0.38748	0.727000	0.41649	0.197000	0.17197	0.158000	0.19367	0.460000	0.39030	GCT	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369993.2		+	ENST00000405460.2	Silent	SNP	5 : 89938474 - 89938474 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	764	35
SLC6A15	55117	broad.mit.edu	37	12	85255611	85255611	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:85255611C>A	ENST00000552192.1	-	11	1982	c.1672G>T	c.(1672-1674)Gag>Tag	p.E558*	SLC6A15_ENST00000309283.7_3'UTR|SLC6A15_ENST00000266682.5_Nonsense_Mutation_p.E665*	NM_001146335.2	NP_001139807.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	665					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TTCACAGGCTCTTTCAGGACC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	122	122			NA	NA	12		NA											NA				85255611		2203	4300	6503	SO:0001587	stop_gained			AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041	55117	55117		Solute carriers	13621	protein-coding gene	gene with protein product	homolog of rat orphan transporter v7-3, sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7	607971	solute carrier family 6 (neurotransmitter transporter), member 15		NA	10471414, 11112352, 16185194	Standard	NM_018057, NM_182767	NM_182767	NA	Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000552192.1:c.1672G>T	12.37:g.85255611C>A	ENSP00000450145:p.Glu558*	NA	A8K592	37	CCDS53816.1	.	.	.	.	.	.	.	.	.	.	C	40	7.971531	0.98588	.	.	ENSG00000072041	ENST00000266682;ENST00000552192;ENST00000548267	.	.	.	5.85	4.94	0.65067	.	0.246459	0.46758	D	0.000272	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	16.8652	0.86027	0.0:0.8717:0.1283:0.0	.	.	.	.	X	665;558;143	.	ENSP00000266682:E665X	E	-	1	0	SLC6A15	83779742	1.000000	0.71417	0.939000	0.37840	0.988000	0.76386	7.364000	0.79526	1.417000	0.47077	0.655000	0.94253	GAG	SLC6A15-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405679.1		-	ENST00000552192.1	Nonsense_Mutation	SNP	12 : 85255611 - 85255611 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	515	118
MAN2B2	23324	broad.mit.edu	37	4	6598925	6598925	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6598925C>T	ENST00000285599.3	+	8	1179	c.1143C>T	c.(1141-1143)gcC>gcT	p.A381A	MAN2B2_ENST00000504248.1_Silent_p.A330A	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	381					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TGTTGTATGCCGGGGAGTCCA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4405	2.1+/-5.4	0,1,2202	81	90	87		1143	-9.5	0.1	4		87	0,8600		0,0,4300	no	coding-synonymous	MAN2B2	NM_015274.1		0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077		381/1010	6598925	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288	23324	23324			29623	protein-coding gene	gene with protein product	core-specific lysosomal alpha-1,6-Mannosidase				NA	10231032, 16115860	Standard	NM_015274	XR_241647	NA	Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.1143C>T	4.37:g.6598925C>T		NA	Q66MP2|Q86T67	37	CCDS33951.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.366790	0.24771	2.27E-4	0.0	ENSG00000013288	ENST00000505907	.	.	.	5.13	-9.49	0.00587	.	.	.	.	.	T	0.34600	0.0903	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41662	-0.9496	4	.	.	.	-25.9402	2.8042	0.05423	0.347:0.1042:0.0869:0.4619	.	.	.	.	L	380	.	.	P	+	2	0	MAN2B2	6649826	0.001000	0.12720	0.138000	0.22173	0.985000	0.73830	-2.311000	0.01128	-1.699000	0.01416	-0.275000	0.10095	CCG	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359106.2		+	ENST00000285599.3	Silent	SNP	4 : 6598925 - 6598925 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1092	175
SLC1A4	6509	broad.mit.edu	37	2	65243637	65243637	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:65243637C>T	ENST00000234256.3	+	5	1107	c.864C>T	c.(862-864)atC>atT	p.I288I	SLC1A4_ENST00000531327.1_Intron|SLC1A4_ENST00000493121.1_3'UTR	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	288					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	AAGACATCATCGTGCTGGTGA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	1,4405	2.1+/-5.4	0,1,2202	205	189	194		,864	-3.2	0	2		194	1,8599	1.2+/-3.3	0,1,4299	yes	intron,coding-synonymous	SLC1A4	NM_001193493.1,NM_003038.4	,	0,2,6501	TT,TC,CC	NA	0.0116,0.0227,0.0154	,	,288/533	65243637	2,13004	2203	4300	6503	SO:0001819	synonymous_variant				CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902	6509	6509		Solute carriers	10942	protein-coding gene	gene with protein product	alanine/serine/cysteine/threonine transporter	600229			NA	7896285, 8910405	Standard	NM_003038	NM_003038	NA	Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.864C>T	2.37:g.65243637C>T		NA	D6W5F0	37	CCDS1879.1																																																																																			SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251726.2		+	ENST00000234256.3	Silent	SNP	2 : 65243637 - 65243637 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	863	81
TMEM164	84187	broad.mit.edu	37	X	109416479	109416479	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:109416479G>A	ENST00000372073.1	+	7	1030	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	TMEM164_ENST00000372068.2_Missense_Mutation_p.E232K|TMEM164_ENST00000464177.1_3'UTR|TMEM164_ENST00000372072.3_Missense_Mutation_p.E83K|TMEM164_ENST00000288381.4_Missense_Mutation_p.E193K			Q5U3C3	TM164_HUMAN	transmembrane protein 164	232						integral to membrane		p.E193K(1)|p.E232K(1)		cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						GCAGGTCACCGAAGTGAATTT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	large_intestine(2)											116	88	97			NA	NA	X		NA											NA				109416479		2203	4300	6503	SO:0001583	missense			AK094127	CCDS14550.2, CCDS55475.1	Xq22.3	2008-02-05			ENSG00000157600	ENSG00000157600	84187	84187			26217	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_032227	NM_032227	NA	Approved	FLJ22679, RP13-360B22.2	uc004eom.3	Q5U3C3	OTTHUMG00000022192	ENST00000372073.1:c.694G>A	X.37:g.109416479G>A	ENSP00000361143:p.Glu232Lys	NA		37	CCDS14550.2	.	.	.	.	.	.	.	.	.	.	g	15.35	2.807907	0.50421	.	.	ENSG00000157600	ENST00000372072;ENST00000372073;ENST00000372068;ENST00000288381;ENST00000501872	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.52	5.52	0.82312	.	0.045262	0.85682	N	0.000000	T	0.37517	0.1006	L	0.49350	1.555	0.80722	D	1	P;P	0.47545	0.897;0.584	B;B	0.35114	0.196;0.064	T	0.33292	-0.9874	10	0.41790	T	0.15	-3.7445	18.5819	0.91174	0.0:0.0:1.0:0.0	.	193;232	Q9H617;Q5U3C3	.;TM164_HUMAN	K	83;232;232;193;193	ENSP00000384075:E83K;ENSP00000361143:E232K;ENSP00000361138:E232K;ENSP00000288381:E193K	ENSP00000288381:E193K	E	+	1	0	TMEM164	109303135	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.472000	0.97709	2.331000	0.79229	0.525000	0.51046	GAA	TMEM164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057898.1		+	ENST00000372073.1	Missense_Mutation	SNP	X : 109416479 - 109416479 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	334	88
ZFC3H1	196441	broad.mit.edu	37	12	72017193	72017193	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72017193T>C	ENST00000378743.3	-	24	5049	c.4691A>G	c.(4690-4692)cAa>cGa	p.Q1564R		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1564					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTGAACAGCTTGCCATGGCAT	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	89	92			NA	NA	12		NA											NA				72017193		1848	4094	5942	SO:0001583	missense			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858	196441	196441		Zinc finger, C3H1-type containing	28328	protein-coding gene	gene with protein product			proline/serine-rich coiled-coil 2, coiled-coil domain containing 131	PSRC2, CCDC131	NA	9628581	Standard	NM_144982	NM_144982	NA	Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.4691A>G	12.37:g.72017193T>C	ENSP00000368017:p.Gln1564Arg	NA	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	37	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	T	6.614	0.481682	0.12581	.	.	ENSG00000133858	ENST00000378743	T	0.32515	1.45	4.98	3.84	0.44239	.	0.152990	0.45606	D	0.000360	T	0.15046	0.0363	N	0.17082	0.46	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.09164	-1.0687	10	0.13853	T	0.58	.	5.883	0.18866	0.1462:0.0788:0.0:0.775	.	1564	O60293	ZC3H1_HUMAN	R	1564	ENSP00000368017:Q1564R	ENSP00000368017:Q1564R	Q	-	2	0	ZFC3H1	70303460	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	3.069000	0.50026	0.747000	0.32809	0.460000	0.39030	CAA	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404751.1		-	ENST00000378743.3	Missense_Mutation	SNP	12 : 72017193 - 72017193 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	297	51
FAM135A	57579	broad.mit.edu	37	6	71245970	71245970	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:71245970G>A	ENST00000505769.1	+	19	3120	c.2713G>A	c.(2713-2715)Gga>Aga	p.G905R	FAM135A_ENST00000361499.3_Missense_Mutation_p.G1129R|FAM135A_ENST00000370479.3_Missense_Mutation_p.G1112R|FAM135A_ENST00000505868.1_Missense_Mutation_p.G1325R|FAM135A_ENST00000457062.2_Missense_Mutation_p.G1112R|FAM135A_ENST00000418814.2_Missense_Mutation_p.G1325R			Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1325										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AAGCTTTATTGGACATTCGTT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	103	103			NA	NA	6		NA											NA				71245970		2202	4299	6501	SO:0001583	missense			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269	57579	57579			21084	protein-coding gene	gene with protein product			KIAA1411	KIAA1411	NA	10718198	Standard	NM_020819	NM_001105531	NA	Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000505769.1:c.2713G>A	6.37:g.71245970G>A	ENSP00000423785:p.Gly905Arg	NA	A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	37		.	.	.	.	.	.	.	.	.	.	G	29.1	4.980492	0.92982	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61;-0.61	5.51	5.51	0.81932	Domain of unknown function DUF676, lipase-like (1);	0.096119	0.64402	D	0.000001	D	0.86744	0.6006	M	0.91038	3.17	0.80722	D	1	P;D;D;D;D	0.89917	0.933;1.0;1.0;0.981;1.0	D;D;D;D;D	0.97110	0.921;0.987;1.0;0.914;0.988	D	0.89187	0.3548	10	0.87932	D	0	.	19.4777	0.94995	0.0:0.0:1.0:0.0	.	905;1325;1325;1129;1112	D6RCC7;Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;.;F135A_HUMAN;.;.	R	1325;1112;905;1112;1129;1325	ENSP00000410768:G1325R;ENSP00000359510:G1112R;ENSP00000423785:G905R;ENSP00000409201:G1112R;ENSP00000354913:G1129R;ENSP00000423307:G1325R	ENSP00000354913:G1129R	G	+	1	0	FAM135A	71302691	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.766000	0.98957	2.575000	0.86900	0.585000	0.79938	GGA	FAM135A-004	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000360643.1		+	ENST00000505769.1	Missense_Mutation	SNP	6 : 71245970 - 71245970 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	401	60
NT5E	4907	broad.mit.edu	37	6	86197066	86197066	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:86197066A>T	ENST00000257770.3	+	5	1012	c.963A>T	c.(961-963)aaA>aaT	p.K321N	NT5E_ENST00000369651.3_Missense_Mutation_p.K321N	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	321					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	CAAGCATAAAAGCAGACATTA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(140;797 1765 2035 2752 18208)							NA				0													88	91	90			NA	NA	6		NA											NA				86197066		2203	4300	6503	SO:0001583	missense			X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	4907	4907	3.1.3.5	CD molecules	8021	protein-coding gene	gene with protein product		129190	5' nucleotidase (CD73)	NT5	NA		Standard		NM_002526	NA	Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.963A>T	6.37:g.86197066A>T	ENSP00000257770:p.Lys321Asn	NA	O75520|Q5W116	37	CCDS5002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.08|16.08	3.022934|3.022934	0.54683|0.54683	.|.	.|.	ENSG00000135318|ENSG00000135318	ENST00000416334;ENST00000437581|ENST00000369647;ENST00000257770;ENST00000369651	T;T|T;T	0.57752|0.56776	0.45;0.38|0.44;0.45	5.38|5.38	4.22|4.22	0.49857|0.49857	.|.	0.169287|0.169287	0.52532|0.52532	D|D	0.000063|0.000063	T|T	0.37293|0.37293	0.0998|0.0998	M|M	0.64997|0.64997	1.995|1.995	0.40974|0.40974	D|D	0.984722|0.984722	.|P;P	.|0.42735	.|0.788;0.67	.|P;B	.|0.45474	.|0.482;0.381	T|T	0.19877|0.19877	-1.0292|-1.0292	8|10	0.46703|0.25106	T|T	0.11|0.35	-25.9351|-25.9351	9.7274|9.7274	0.40339|0.40339	0.8553:0.0:0.1447:0.0|0.8553:0.0:0.1447:0.0	.|.	.|321;321	.|B3KQI8;P21589	.|.;5NTD_HUMAN	M|N	86;17|97;321;321	ENSP00000414674:K86M;ENSP00000387630:K17M|ENSP00000257770:K321N;ENSP00000358665:K321N	ENSP00000414674:K86M|ENSP00000257770:K321N	K|K	+|+	2|3	0|2	NT5E|NT5E	86253785|86253785	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.936000|0.936000	0.57629|0.57629	3.070000|3.070000	0.50033|0.50033	0.894000|0.894000	0.36317|0.36317	0.455000|0.455000	0.32223|0.32223	AAG|AAA	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041388.1		+	ENST00000257770.3	Missense_Mutation	SNP	6 : 86197066 - 86197066 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	425	80
KY	339855	broad.mit.edu	37	3	134322979	134322979	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134322979G>A	ENST00000508956.1	-	10	1422	c.1365C>T	c.(1363-1365)agC>agT	p.S455S	KY_ENST00000423778.2_Silent_p.S476S|KY_ENST00000503669.1_3'UTR			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	476						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						AGCGCCCGTCGCTGGTGTGGA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	27	26			NA	NA	3		NA											NA				134322979		2071	4182	6253	SO:0001819	synonymous_variant			AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611	339855	339855			26576	protein-coding gene	gene with protein product		605739			NA		Standard	NM_178554	NM_178554	NA	Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000508956.1:c.1365C>T	3.37:g.134322979G>A		NA	B7Z1S4|Q6ZT15	37																																																																																				KY-005	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000357324.1		-	ENST00000508956.1	Silent	SNP	3 : 134322979 - 134322979 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	102	10
DSC3	1825	broad.mit.edu	37	18	28586953	28586953	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28586953A>G	ENST00000360428.4	-	12	1888	c.1808T>C	c.(1807-1809)gTc>gCc	p.V603A	DSC3_ENST00000434452.1_Missense_Mutation_p.V603A	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	603	Cadherin 5.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			AGCTCCATGGACAGGTTCATC	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	105	106			NA	NA	18		NA											NA				28586953		2203	4300	6503	SO:0001583	missense			X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762	1825	1825		Cadherins / Major cadherins	3037	protein-coding gene	gene with protein product		600271		DSC4	NA	7774948, 8486729	Standard	NM_001941, NM_024423	NM_001941	NA	Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.1808T>C	18.37:g.28586953A>G	ENSP00000353608:p.Val603Ala	NA	A6NN35|Q14200|Q9HAZ9	37	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	A	0.632	-0.816678	0.02776	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.60548	0.18;0.18	5.11	-0.191	0.13252	Cadherin (2);Cadherin-like (1);	1.001040	0.08063	N	0.998654	T	0.37839	0.1018	L	0.29908	0.895	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.21655	-1.0239	10	0.11794	T	0.64	.	4.6816	0.12738	0.4613:0.0:0.3889:0.1498	.	603;603	Q14574;Q14574-2	DSC3_HUMAN;.	A	603	ENSP00000353608:V603A;ENSP00000392068:V603A	ENSP00000353608:V603A	V	-	2	0	DSC3	26840951	0.000000	0.05858	0.000000	0.03702	0.592000	0.36648	0.391000	0.20784	0.068000	0.16574	-0.490000	0.04691	GTC	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447384.1		-	ENST00000360428.4	Missense_Mutation	SNP	18 : 28586953 - 28586953 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	338	65
SRGAP2	23380	broad.mit.edu	37	1	206632020	206632020	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206632020C>T	ENST00000414007.1	+	18	2139	c.2139C>T	c.(2137-2139)gaC>gaT	p.D713D	SRGAP2_ENST00000419187.2_Silent_p.D171D			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	853					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TTCGGAGTGACAGCCATGGGC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	29	28			NA	NA	1		NA											NA				206632020		1980	4165	6145	SO:0001819	synonymous_variant			AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028	23380	23380		Rho GTPase activating proteins	19751	protein-coding gene	gene with protein product		606524	formin binding protein 2	FNBP2	NA	15046868, 11672528	Standard	NM_015326	XM_005277510	NA	Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.2139C>T	1.37:g.206632020C>T		NA		37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.12|10.12	1.264395|1.264395	0.23136|0.23136	.|.	.|.	ENSG00000163486|ENSG00000163486	ENST00000295713|ENST00000426388	.|.	.|.	.|.	6.06|6.06	0.66|0.66	0.17868|0.17868	.|.	.|.	.|.	.|.	.|.	.|T	.|0.31451	.|0.0797	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.35798	.|-0.9774	.|3	.|.	.|.	.|.	.|.	4.5869|4.5869	0.12287|0.12287	0.1155:0.5353:0.2235:0.1256|0.1155:0.5353:0.2235:0.1256	.|.	.|.	.|.	.|.	X|I	767|149	.|.	.|.	Q|T	+|+	1|2	0|0	SRGAP2|SRGAP2	204698643|204698643	0.988000|0.988000	0.35896|0.35896	0.993000|0.993000	0.49108|0.49108	0.998000|0.998000	0.95712|0.95712	0.577000|0.577000	0.23758|0.23758	0.130000|0.130000	0.18549|0.18549	0.655000|0.655000	0.94253|0.94253	CAG|ACA	SRGAP2-201	KNOWN	basic	protein_coding	NA	protein_coding			+	ENST00000414007.1	Silent	SNP	1 : 206632020 - 206632020 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	98	19
COL17A1	1308	broad.mit.edu	37	10	105836072	105836072	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105836072G>T	ENST00000353479.5	-	5	608	c.318C>A	c.(316-318)cgC>cgA	p.R106R	COL17A1_ENST00000393211.3_Silent_p.R106R|COL17A1_ENST00000369733.3_Silent_p.R106R	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	106	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CATACGCATGGCGGGTAACGT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													202	201	201			NA	NA	10		NA											NA				105836072		2203	4300	6503	SO:0001819	synonymous_variant			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618	1308	1308		Collagens	2194	protein-coding gene	gene with protein product		113811		BPAG2	NA	7916703	Standard	NM_130778, NM_000494	NM_000494	NA	Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.318C>A	10.37:g.105836072G>T		NA	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	37	CCDS7554.1																																																																																			COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050181.1		-	ENST00000353479.5	Silent	SNP	10 : 105836072 - 105836072 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	686	147
APH1A	51107	broad.mit.edu	37	1	150240145	150240145	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150240145G>A	ENST00000360244.4	-	3	821	c.329C>T	c.(328-330)tCa>tTa	p.S110L	APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000414276.2_Intron|APH1A_ENST00000369109.3_Missense_Mutation_p.S110L	NM_016022.3	NP_057106.2	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	110					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGAGATGGGTGATCTTCCGTC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	47	46			NA	NA	1		NA											NA				150240145		1981	4161	6142	SO:0001583	missense			AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362	51107	51107			29509	protein-coding gene	gene with protein product		607629	anterior pharynx defective 1 homolog A (C. elegans)		NA	10810093, 12110170	Standard	NM_016022	NM_001077628	NA	Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000360244.4:c.329C>T	1.37:g.150240145G>A	ENSP00000353380:p.Ser110Leu	NA	Q5TB23|Q969R6|Q9BVG0|Q9Y386	37	CCDS41391.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.949348	0.34377	.	.	ENSG00000117362	ENST00000369109;ENST00000360244;ENST00000236017	T;T;T	0.43294	0.95;0.95;0.95	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000001	T	0.26011	0.0634	L	0.46614	1.455	0.80722	D	1	B;B;B;P	0.38223	0.12;0.08;0.098;0.623	B;B;B;B	0.37833	0.048;0.104;0.166;0.259	T	0.04153	-1.0973	10	0.31617	T	0.26	-3.7325	15.7896	0.78343	0.0:0.0:1.0:0.0	.	53;110;110;110	B4DUG7;Q96BI3-2;Q5TB22;Q96BI3	.;.;.;APH1A_HUMAN	L	110;110;53	ENSP00000358105:S110L;ENSP00000353380:S110L;ENSP00000236017:S53L	ENSP00000236017:S53L	S	-	2	0	APH1A	148506769	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.673000	0.74482	2.583000	0.87209	0.491000	0.48974	TCA	APH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000035047.1		-	ENST00000360244.4	Missense_Mutation	SNP	1 : 150240145 - 150240145 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	109	15
OLIG3	167826	broad.mit.edu	37	6	137815078	137815078	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137815078G>A	ENST00000367734.2	-	1	453	c.230C>T	c.(229-231)tCg>tTg	p.S77L		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GTCCTGCTCCGACAGCTGCTT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	109	117			NA	NA	6		NA											NA				137815078		2203	4300	6503	SO:0001583	missense			AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468	167826	167826		Basic helix-loop-helix proteins	18003	protein-coding gene	gene with protein product		609323			NA		Standard	NM_175747	NM_175747	NA	Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.230C>T	6.37:g.137815078G>A	ENSP00000356708:p.Ser77Leu	NA	Q8N8Q0	37	CCDS5186.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.565225	0.65651	.	.	ENSG00000177468	ENST00000367734	T	0.72725	-0.68	5.44	5.44	0.79542	.	0.084158	0.49916	D	0.000135	T	0.45357	0.1338	N	0.19112	0.55	0.58432	D	0.999999	B	0.34329	0.449	B	0.24701	0.055	T	0.56727	-0.7931	10	0.66056	D	0.02	-3.4036	19.2352	0.93856	0.0:0.0:1.0:0.0	.	77	Q7RTU3	OLIG3_HUMAN	L	77	ENSP00000356708:S77L	ENSP00000356708:S77L	S	-	2	0	OLIG3	137856771	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.877000	0.87225	2.534000	0.85438	0.591000	0.81541	TCG	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042405.1		-	ENST00000367734.2	Missense_Mutation	SNP	6 : 137815078 - 137815078 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	800	140
PIH1D1	55011	broad.mit.edu	37	19	49954801	49954801	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49954801G>A	ENST00000262265.5	-	1	266	c.31C>T	c.(31-33)Cta>Tta	p.L11L	PIH1D1_ENST00000596049.1_Silent_p.L11L	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	11					box C/D snoRNP assembly	pre-snoRNP complex				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		GCCTCGCTTAGCCCCATTCCC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	75	80			NA	NA	19		NA											NA				49954801		2203	4300	6503	SO:0001819	synonymous_variant			AK000650	CCDS12765.1	19q13.33	2012-07-18	2007-01-31	2007-01-31	ENSG00000104872	ENSG00000104872	55011	55011			26075	protein-coding gene	gene with protein product		611480		NOP17	NA	12477932	Standard	NM_017916	NM_017916	NA	Approved	FLJ20643	uc002pns.2	Q9NWS0		ENST00000262265.5:c.31C>T	19.37:g.49954801G>A		NA	Q9BVL0	37	CCDS12765.1																																																																																			PIH1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465389.2		-	ENST00000262265.5	Silent	SNP	19 : 49954801 - 49954801 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	554	104
SPTBN4	57731	broad.mit.edu	37	19	41009865	41009865	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41009865C>T	ENST00000352632.3	+	12	1577	c.1491C>T	c.(1489-1491)gcC>gcT	p.A497A	SPTBN4_ENST00000595535.1_Silent_p.A497A|SPTBN4_ENST00000598249.1_Silent_p.A497A|SPTBN4_ENST00000338932.3_Silent_p.A497A|SPTBN4_ENST00000344104.3_Silent_p.A497A			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	497					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CATTGGCAGCCGAAGGCTACT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	38	37			NA	NA	19		NA											NA				41009865		2203	4300	6503	SO:0001819	synonymous_variant			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460	57731	57731		Pleckstrin homology (PH) domain containing	14896	protein-coding gene	gene with protein product		606214			NA	11086001	Standard		NM_020971	NA	Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.1491C>T	19.37:g.41009865C>T		NA	Q9H1K7|Q9H1K8|Q9H1K9|Q9H3G8|Q9HCD0	37	CCDS12559.1																																																																																			SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462559.2		+	ENST00000352632.3	Silent	SNP	19 : 41009865 - 41009865 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	338	16
GLDN	342035	broad.mit.edu	37	15	51693790	51693790	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51693790G>T	ENST00000335449.6	+	9	1084	c.1028G>T	c.(1027-1029)gGc>gTc	p.G343V	GLDN_ENST00000396399.2_Splice_Site_p.G219V	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	343	Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		CCTCCTACAGGCATCATGGTT	0.507		NA									OREG0023125	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													198	162	174			NA	NA	15		NA											NA				51693790		2196	4293	6489	SO:0001630	splice_region_variant			AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417	342035	342035			29514	protein-coding gene	gene with protein product		608603	collomin	COLM	NA	16039564, 12642876	Standard	NM_181789	XM_005254338	NA	Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.1028-1G>T	15.37:g.51693790G>T		979	Q6UXZ7|Q7Z359	37	CCDS10140.2	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803327	0.90623	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.92647	-3.08;-3.08	5.71	5.71	0.89125	Olfactomedin-like (3);	0.000000	0.44285	D	0.000476	D	0.96244	0.8775	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95788	0.8822	9	.	.	.	.	18.8497	0.92222	0.0:0.0:1.0:0.0	.	343	Q6ZMI3	GLDN_HUMAN	V	343;219;219	ENSP00000335196:G343V;ENSP00000379681:G219V	.	G	+	2	0	GLDN	49481082	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.384000	0.90160	2.692000	0.91855	0.655000	0.94253	GGC	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254667.2	Missense_Mutation	+	ENST00000335449.6	Splice_Site	SNP	15 : 51693790 - 51693790 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	551	47
GP6	51206	broad.mit.edu	37	19	55525665	55525665	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55525665A>G	ENST00000310373.3	-	8	1675	c.1648T>C	c.(1648-1650)Tac>Cac	p.Y550H	CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.7_ENST00000586845.1_RNA|GP6_ENST00000417454.1_3'UTR|GP6_ENST00000333884.2_3'UTR	NM_001083899.1	NP_001077368	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	0					enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		ttttgttggtagagatgaggt	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	53	54			NA	NA	19		NA											NA				55525665		1917	4119	6036	SO:0001583	missense			AB035073	CCDS42626.1, CCDS46184.1, CCDS58678.1	19q13.4	2013-01-29			ENSG00000088053	ENSG00000088053	51206	51206		Immunoglobulin superfamily / Immunoglobulin-like domain containing	14388	protein-coding gene	gene with protein product		605546			NA	11027634	Standard		NM_001083899	NA	Approved	GPVI	uc002qil.3	Q9HCN6	OTTHUMG00000159709	ENST00000310373.3:c.1648T>C	19.37:g.55525665A>G	ENSP00000308782:p.Tyr550His	NA	Q9HCN7|Q9UIF2	37	CCDS42626.1	.	.	.	.	.	.	.	.	.	.	A	10.24	1.295340	0.23564	.	.	ENSG00000088053	ENST00000310373	T	0.00564	6.57	0.235	0.235	0.15431	.	.	.	.	.	T	0.00754	0.0025	.	.	.	0.09310	N	1	P	0.47106	0.89	P	0.49332	0.607	T	0.53027	-0.8496	7	0.87932	D	0	.	.	.	.	.	550	Q9HCN6-3	.	H	550	ENSP00000308782:Y550H	ENSP00000308782:Y550H	Y	-	1	0	GP6	60217477	0.078000	0.21339	0.044000	0.18714	0.044000	0.14063	0.303000	0.19210	0.263000	0.21812	0.260000	0.18958	TAC	GP6-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357007.1		-	ENST00000310373.3	Missense_Mutation	SNP	19 : 55525665 - 55525665 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	48
KANSL1	284058	broad.mit.edu	37	17	44110540	44110540	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44110540C>T	ENST00000575318.1	-	11	2584	c.2551G>A	c.(2551-2553)Gca>Aca	p.A851T	KANSL1_ENST00000432791.1_Missense_Mutation_p.A915T|KANSL1_ENST00000393476.3_Missense_Mutation_p.A209T|KANSL1_ENST00000262419.6_Missense_Mutation_p.A915T|KANSL1_ENST00000574590.1_Missense_Mutation_p.A915T|KANSL1_ENST00000572904.1_Missense_Mutation_p.A915T			Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	915						MLL1 complex	protein binding				NA						GCGAAGGCTGCGTCGGATAGG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	62	62			NA	NA	17		NA											NA				44110540		2203	4300	6503	SO:0001583	missense			BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071	284058	284058			24565	protein-coding gene	gene with protein product	centromere protein 36	612452	KIAA1267	KIAA1267	NA	10574462	Standard	NM_015443	NM_015443	NA	Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000575318.1:c.2551G>A	17.37:g.44110540C>T	ENSP00000461299:p.Ala851Thr	NA	A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	37		.	.	.	.	.	.	.	.	.	.	C	17.91	3.504783	0.64410	.	.	ENSG00000120071	ENST00000262419;ENST00000432791;ENST00000393476	T;T;T	0.50813	0.73;0.73;0.73	6.17	6.17	0.99709	.	0.048575	0.85682	D	0.000000	T	0.38188	0.1031	L	0.34521	1.04	0.49051	D	0.999743	P;P;P;P	0.52170	0.951;0.588;0.588;0.931	B;B;B;B	0.42062	0.371;0.216;0.294;0.374	T	0.08146	-1.0736	10	0.22109	T	0.4	-11.3671	15.1108	0.72355	0.142:0.858:0.0:0.0	.	183;246;915;915	B3KT49;Q7Z3B3-2;C9JHY2;Q7Z3B3	.;.;.;K1267_HUMAN	T	915;915;209	ENSP00000262419:A915T;ENSP00000387393:A915T;ENSP00000377117:A209T	ENSP00000262419:A915T	A	-	1	0	KIAA1267	41466387	0.998000	0.40836	0.996000	0.52242	0.234000	0.25298	3.888000	0.56204	2.941000	0.99782	0.655000	0.94253	GCA	KANSL1-006	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000440272.1		-	ENST00000575318.1	Missense_Mutation	SNP	17 : 44110540 - 44110540 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	62	15
CBY1	25776	broad.mit.edu	37	22	39067160	39067160	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39067160C>A	ENST00000216029.3	+	4	404	c.270C>A	c.(268-270)ctC>ctA	p.L90L	RP3-508I15.9_ENST00000444381.1_RNA|RP3-508I15.9_ENST00000431924.2_RNA	NM_015373.3	NP_056188.1	Q9Y3M2	CBY1_HUMAN	chibby homolog 1 (Drosophila)	90	Minimal region for the interaction with PKD2.				cardiac muscle cell differentiation|fat cell differentiation|negative regulation of transcription, DNA-dependent|protein localization	nuclear speck|trans-Golgi network	beta-catenin binding|identical protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	Melanoma(58;0.04)					AGAACAATCTCTTGCGGCTGA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	134	136			NA	NA	22		NA											NA				39067160		2203	4300	6503	SO:0001819	synonymous_variant			BK005534	CCDS13974.1, CCDS74861.1	22q12	2014-02-06	2007-01-26	2007-01-26	ENSG00000100211	ENSG00000100211	25776	25776			1307	protein-coding gene	gene with protein product	chibby CTNNB1-mediated transcription inhibitor	607757	chromosome 22 open reading frame 2, PKD2 interactor, golgi and endoplasmic reticulum associated 1	C22orf2, PGEA1	NA	10591208, 15194699	Standard	NM_015373	NM_015373	NA	Approved	PIGEA14, PIGEA-14, Chibby, Cby	uc003awb.4	Q9Y3M2	OTTHUMG00000150990	ENST00000216029.3:c.270C>A	22.37:g.39067160C>A		NA	B2R4S2|Q66GT6|Q9UIK9	37	CCDS13974.1																																																																																			CBY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320832.1		+	ENST00000216029.3	Silent	SNP	22 : 39067160 - 39067160 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	645	130
ZNF225	7768	broad.mit.edu	37	19	44622685	44622685	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44622685T>G	ENST00000592780.1	+	4	414	c.193T>G	c.(193-195)Ttt>Gtt	p.F65V	ZNF225_ENST00000590612.1_Missense_Mutation_p.F65V|ZNF225_ENST00000262894.6_Missense_Mutation_p.F65V			Q9UK10	ZN225_HUMAN	zinc finger protein 225	65	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				GGAAGAAAAGTTTTGGATGAT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	76	77			NA	NA	19		NA											NA				44622685		2203	4300	6503	SO:0001583	missense			AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294	7768	7768		Zinc fingers, C2H2-type, -	13018	protein-coding gene	gene with protein product					NA		Standard		NM_013362	NA	Approved		uc002oyj.1	Q9UK10		ENST00000592780.1:c.193T>G	19.37:g.44622685T>G	ENSP00000466889:p.Phe65Val	NA	A8K8S2|Q53F12|Q9NS46|Q9UID8	37		.	.	.	.	.	.	.	.	.	.	T	1.494	-0.553791	0.03996	.	.	ENSG00000256294	ENST00000262894;ENST00000544184	T	0.06068	3.35	1.93	-0.787	0.10943	Krueppel-associated box (2);	.	.	.	.	T	0.02304	0.0071	N	0.03268	-0.37	0.09310	N	1	B	0.13145	0.007	B	0.14578	0.011	T	0.48514	-0.9029	9	0.16420	T	0.52	.	4.2847	0.10850	0.0:0.4979:0.0:0.5021	.	65	Q9UK10	ZN225_HUMAN	V	65;29	ENSP00000262894:F65V	ENSP00000262894:F65V	F	+	1	0	ZNF225	49314525	0.540000	0.26410	0.001000	0.08648	0.007000	0.05969	0.479000	0.22228	-0.130000	0.11599	0.454000	0.30748	TTT	ZNF225-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000460583.1		+	ENST00000592780.1	Missense_Mutation	SNP	19 : 44622685 - 44622685 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	47
SMOC2	64094	broad.mit.edu	37	6	168949822	168949822	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168949822T>C	ENST00000354536.5	+	7	829	c.609T>C	c.(607-609)cgT>cgC	p.R203R	SMOC2_ENST00000356284.2_Silent_p.R192R	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	192					signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		TTGCATCACGTTACCCTACCC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													183	154	164			NA	NA	6		NA											NA				168949822		2203	4300	6503	SO:0001819	synonymous_variant			AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562	64094	64094		EF-hand domain containing	20323	protein-coding gene	gene with protein product		607223			NA	12031507	Standard		NM_022138	NA	Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000354536.5:c.609T>C	6.37:g.168949822T>C		NA	B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	37	CCDS5307.1																																																																																			SMOC2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043202.1		+	ENST00000354536.5	Silent	SNP	6 : 168949822 - 168949822 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	488	73
SEMA4G	57715	broad.mit.edu	37	10	102743421	102743421	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102743421C>A	ENST00000210633.3	+	14	2143	c.2065C>A	c.(2065-2067)Ctt>Att	p.L689I	MRPL43_ENST00000370242.4_Intron|MRPL43_ENST00000342071.1_Intron|SEMA4G_ENST00000370250.4_Missense_Mutation_p.L684I|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000299179.5_Intron|SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000370241.3_Intron|RP11-108L7.4_ENST00000447344.1_RNA			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	684					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CATTGCCGCGCTTGGTGGCCT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	56	57			NA	NA	10		NA											NA				102743421		2203	4300	6503	SO:0001583	missense			AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539	57715	57715		Semaphorins, Immunoglobulin superfamily / Immunoglobulin-like domain containing	10735	protein-coding gene	gene with protein product					NA		Standard		NM_017893	NA	Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000210633.3:c.2065C>A	10.37:g.102743421C>A	ENSP00000210633:p.Leu689Ile	NA	A6NJY8|Q58EY1|Q9HCF3	37	CCDS7501.1	.	.	.	.	.	.	.	.	.	.	c	16.98	3.272109	0.59649	.	.	ENSG00000095539	ENST00000370250;ENST00000210633	T;T	0.24538	1.85;1.93	5.53	3.64	0.41730	.	1.042350	0.07500	N	0.907053	T	0.39036	0.1063	L	0.34521	1.04	0.48452	D	0.999657	D	0.76494	0.999	D	0.69654	0.965	T	0.06303	-1.0834	10	0.37606	T	0.19	.	11.3735	0.49713	0.0:0.8284:0.0:0.1716	.	689	Q9NTN9-2	.	I	684;689	ENSP00000359270:L684I;ENSP00000210633:L689I	ENSP00000210633:L689I	L	+	1	0	SEMA4G	102733411	0.601000	0.26907	0.942000	0.38095	0.932000	0.56968	1.208000	0.32345	2.613000	0.88420	0.550000	0.68814	CTT	SEMA4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049919.2		+	ENST00000210633.3	Missense_Mutation	SNP	10 : 102743421 - 102743421 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	146	21
SPA17	53340	broad.mit.edu	37	11	124545184	124545184	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124545184C>T	ENST00000532692.1	+	1	1445	c.24C>T	c.(22-24)acC>acT	p.T8T	SPA17_ENST00000227135.2_Silent_p.T8T|SIAE_ENST00000525730.1_5'UTR			Q15506	SP17_HUMAN	sperm autoantigenic protein 17	8					binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		TCTCCAACACCCACTACCGAA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	107	108			NA	NA	11		NA											NA				124545184		2201	4299	6500	SO:0001819	synonymous_variant			AF334735	CCDS8450.1	11q24.2	2009-03-12			ENSG00000064199	ENSG00000064199	53340	53340			11210	protein-coding gene	gene with protein product	cancer/testis antigen 22	608621			NA	8688458	Standard	NM_017425	NM_017425	NA	Approved	SP17, CT22	uc001qap.3	Q15506	OTTHUMG00000165927	ENST00000532692.1:c.24C>T	11.37:g.124545184C>T		NA	B2R4F2|Q9BXF7	37	CCDS8450.1																																																																																			SPA17-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387075.1		+	ENST00000532692.1	Silent	SNP	11 : 124545184 - 124545184 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	592	81
ZNF749	388567	broad.mit.edu	37	19	57954793	57954793	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57954793C>A	ENST00000334181.4	+	3	527	c.277C>A	c.(277-279)Ctg>Atg	p.L93M	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	93	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TAGCTCAATTCTGAAGGACAT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	82	87			NA	NA	19		NA											NA				57954793		2203	4300	6503	SO:0001583	missense			AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230	388567	388567		Zinc fingers, C2H2-type, -	32783	protein-coding gene	gene with protein product					NA		Standard	NM_001023561	NM_001023561	NA	Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.277C>A	19.37:g.57954793C>A	ENSP00000333980:p.Leu93Met	NA		37	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	C	11.05	1.523956	0.27299	.	.	ENSG00000186230	ENST00000334181;ENST00000415248	T;T	0.61274	3.17;0.12	1.87	-2.06	0.07298	Zinc finger, C2H2-like (1);Krueppel-associated box (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.59932	0.2230	M	0.61703	1.905	0.09310	N	1	D	0.56287	0.975	P	0.58013	0.831	T	0.50980	-0.8763	9	0.46703	T	0.11	.	2.2326	0.04000	0.2506:0.3665:0.0:0.3828	.	93	O43361	ZN749_HUMAN	M	93;6	ENSP00000333980:L93M;ENSP00000397745:L6M	ENSP00000333980:L93M	L	+	1	2	ZNF749	62646605	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-2.426000	0.01027	-0.683000	0.05190	0.313000	0.20887	CTG	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317879.1		+	ENST00000334181.4	Missense_Mutation	SNP	19 : 57954793 - 57954793 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	283	60
MEGF11	84465	broad.mit.edu	37	15	66190367	66190367	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66190367C>T	ENST00000409699.2	-	23	3212	c.3040G>A	c.(3040-3042)Gac>Aac	p.D1014N	MEGF11_ENST00000288745.3_Missense_Mutation_p.D939N|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000422354.1_Missense_Mutation_p.D1014N|MEGF11_ENST00000395625.2_Missense_Mutation_p.D939N			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	1014						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CTAGGTAGGTCGTATGCATTC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	124	129			NA	NA	15		NA											NA				66190367		2201	4299	6500	SO:0001583	missense			AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890	84465	84465			29635	protein-coding gene	gene with protein product		612454			NA	11347906	Standard	NM_032445	NM_032445	NA	Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.3040G>A	15.37:g.66190367C>T	ENSP00000386908:p.Asp1014Asn	NA	Q17R86|Q6UXS5|Q8ND91|Q96KG6	37	CCDS10213.2	.	.	.	.	.	.	.	.	.	.	C	19.50	3.838665	0.71373	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625	D;D;D;D	0.95103	-3.61;-3.5;-3.61;-3.5	5.03	4.12	0.48240	.	0.000000	0.39020	U	0.001487	D	0.92064	0.7485	M	0.73217	2.22	0.80722	D	1	B;B	0.34255	0.445;0.374	B;B	0.20577	0.03;0.025	D	0.91630	0.5318	10	0.87932	D	0	.	13.2972	0.60305	0.0:0.9244:0.0:0.0756	.	1014;939	A6BM72;A6BM72-2	MEG11_HUMAN;.	N	1014;939;1014;939	ENSP00000386908:D1014N;ENSP00000288745:D939N;ENSP00000414475:D1014N;ENSP00000378987:D939N	ENSP00000288745:D939N	D	-	1	0	MEGF11	63977421	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.452000	0.52971	1.345000	0.45676	0.655000	0.94253	GAC	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329307.2		-	ENST00000409699.2	Missense_Mutation	SNP	15 : 66190367 - 66190367 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	277	44
KLHL30	377007	broad.mit.edu	37	2	239056536	239056536	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239056536C>T	ENST00000409223.1	+	6	1319	c.1212C>T	c.(1210-1212)ccC>ccT	p.P404P	KLHL30_ENST00000305959.4_Silent_p.P386P			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	404										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GCTGGACGCCCGTCAGCCCGG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	31	30			NA	NA	2		NA											NA				239056536		1888	4091	5979	SO:0001819	synonymous_variant				CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427	377007	377007		Kelch-like, BTB/POZ domain containing	24770	protein-coding gene	gene with protein product			kelch-like 30 (Drosophila)		NA		Standard	NM_198582	NM_198582	NA	Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.1212C>T	2.37:g.239056536C>T		NA	Q6ZUS1	37	CCDS46555.2																																																																																			KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328518.1		+	ENST00000409223.1	Silent	SNP	2 : 239056536 - 239056536 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	193	29
KIAA0100	9703	broad.mit.edu	37	17	26942089	26942089	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26942089C>T	ENST00000528896.2	-	39	6775	c.6701G>A	c.(6700-6702)cGc>cAc	p.R2234H	SPAG5-AS1_ENST00000414744.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R2091H|SPAG5-AS1_ENST00000554154.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R2091H	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2234						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AAATCATTTGCGCCTGCCAAA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													244	240	242			NA	NA	17		NA											NA				26942089		2203	4300	6503	SO:0001583	missense			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202	9703	9703			28960	protein-coding gene	gene with protein product	cancer/testis antigen 101, breast cancer overexpressed gene 1	610664			NA	16289875	Standard	NM_014680	NM_014680	NA	Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.6701G>A	17.37:g.26942089C>T	ENSP00000436773:p.Arg2234His	NA	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	37	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.623061	0.66901	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.27720	1.65;1.65	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.47655	0.1457	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.42241	-0.9463	10	0.72032	D	0.01	.	19.9737	0.97296	0.0:1.0:0.0:0.0	.	2234	Q14667	K0100_HUMAN	H	2234;2204;2234;2091	ENSP00000436773:R2234H;ENSP00000446443:R2091H	ENSP00000005905:R2234H	R	-	2	0	KIAA0100	23966216	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.627000	0.67784	2.826000	0.97356	0.561000	0.74099	CGC	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390571.3		-	ENST00000528896.2	Missense_Mutation	SNP	17 : 26942089 - 26942089 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1576	320
FAM161A	84140	broad.mit.edu	37	2	62067069	62067069	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:62067069G>A	ENST00000404929.1	-	3	1081	c.1070C>T	c.(1069-1071)gCc>gTc	p.A357V	FAM161A_ENST00000405894.3_Missense_Mutation_p.A357V	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	357					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AATGGGTCTGGCTTTAAATCG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	117	118			NA	NA	2		NA											NA				62067069		1863	4109	5972	SO:0001583	missense				CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264	84140	84140			25808	protein-coding gene	gene with protein product		613596	retinitis pigmentosa 28 (autosomal recessive)	RP28	NA	10507729, 20705278, 20705279	Standard	NM_032180	NM_032180	NA	Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000404929.1:c.1070C>T	2.37:g.62067069G>A	ENSP00000385158:p.Ala357Val	NA	B4DJV7|Q9H8R2	37	CCDS56120.1	.	.	.	.	.	.	.	.	.	.	G	34	5.304321	0.95601	.	.	ENSG00000170264	ENST00000404929;ENST00000405894	T;T	0.42131	0.98;0.98	5.67	5.67	0.87782	.	0.050451	0.85682	D	0.000000	T	0.70518	0.3233	M	0.85373	2.75	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74469	-0.3655	10	0.72032	D	0.01	-14.9161	19.3967	0.94610	0.0:0.0:1.0:0.0	.	357;357	Q3B820;Q3B820-3	F161A_HUMAN;.	V	357	ENSP00000385158:A357V;ENSP00000385893:A357V	ENSP00000385158:A357V	A	-	2	0	FAM161A	61920573	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.973000	0.93428	2.665000	0.90641	0.655000	0.94253	GCC	FAM161A-005	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325541.2		-	ENST00000404929.1	Missense_Mutation	SNP	2 : 62067069 - 62067069 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	971	73
CHD3	1107	broad.mit.edu	37	17	7811277	7811277	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7811277C>T	ENST00000380358.4	+	34	5270	c.5269C>T	c.(5269-5271)Cga>Tga	p.R1757*	CHD3_ENST00000358181.4_Nonsense_Mutation_p.R1664*|CHD3_ENST00000330494.7_Nonsense_Mutation_p.R1698*	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1698	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CAATGGGCGACGAGAGGAAAA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	107	110			NA	NA	17		NA											NA				7811277		2203	4300	6503	SO:0001587	stop_gained			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004	1107	1107		Zinc fingers, PHD-type	1918	protein-coding gene	gene with protein product		602120			NA	9326634, 7560064	Standard	NM_001005273	NM_001005271	NA	Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000380358.4:c.5269C>T	17.37:g.7811277C>T	ENSP00000369716:p.Arg1757*	NA	D3DTQ9|Q9Y4I0	37	CCDS32553.2	.	.	.	.	.	.	.	.	.	.	C	45	11.358056	0.99551	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494;ENST00000439235	.	.	.	4.83	4.83	0.62350	.	0.000000	0.43416	D	0.000566	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-11.2051	11.0777	0.48040	0.3173:0.6827:0.0:0.0	.	.	.	.	X	1757;1664;1698;26	.	ENSP00000332628:R1698X	R	+	1	2	CHD3	7752002	0.142000	0.22610	0.996000	0.52242	0.980000	0.70556	0.737000	0.26144	2.509000	0.84616	0.561000	0.74099	CGA	CHD3-003	NOVEL	not_organism_supported|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318052.1		+	ENST00000380358.4	Nonsense_Mutation	SNP	17 : 7811277 - 7811277 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	593	98
TFEC	22797	broad.mit.edu	37	7	115580909	115580909	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:115580909A>G	ENST00000265440.7	-	8	920	c.740T>C	c.(739-741)gTc>gCc	p.V247A	TFEC_ENST00000320239.7_Missense_Mutation_p.V218A|TFEC_ENST00000393485.1_3'UTR|TFEC_ENST00000457268.1_Missense_Mutation_p.V180A	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	247						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			CTGTTTGGTGACATGAGCACC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	125	125			NA	NA	7		NA											NA				115580909		2203	4300	6503	SO:0001583	missense			D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967	22797	22797		Basic helix-loop-helix proteins	11754	protein-coding gene	gene with protein product		604732			NA	9256061	Standard	NM_012252	NM_012252	NA	Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.740T>C	7.37:g.115580909A>G	ENSP00000265440:p.Val247Ala	NA	B2R8X5|Q5H9U8|Q709A4|Q8N6J9	37	CCDS5762.1	.	.	.	.	.	.	.	.	.	.	A	12.79	2.042192	0.35989	.	.	ENSG00000105967	ENST00000265440;ENST00000457268;ENST00000320239	T;T;T	0.64803	-0.12;-0.12;-0.12	5.04	3.86	0.44501	.	0.308377	0.35378	N	0.003250	T	0.54498	0.1862	L	0.48877	1.53	0.42132	D	0.991472	B;B	0.32302	0.359;0.363	B;B	0.37601	0.108;0.254	T	0.50224	-0.8853	10	0.18710	T	0.47	-0.6008	11.2959	0.49277	0.924:0.0:0.076:0.0	.	218;247	O14948-2;O14948	.;TFEC_HUMAN	A	247;180;218	ENSP00000265440:V247A;ENSP00000387650:V180A;ENSP00000318676:V218A	ENSP00000265440:V247A	V	-	2	0	TFEC	115368145	1.000000	0.71417	0.906000	0.35671	0.899000	0.52679	3.858000	0.55979	2.012000	0.59069	0.528000	0.53228	GTC	TFEC-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059839.4		-	ENST00000265440.7	Missense_Mutation	SNP	7 : 115580909 - 115580909 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	655	104
PJA1	64219	broad.mit.edu	37	X	68382741	68382741	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:68382741G>A	ENST00000361478.1	-	2	718	c.341C>T	c.(340-342)gCc>gTc	p.A114V	PJA1_ENST00000374571.4_Missense_Mutation_p.A59V|PJA1_ENST00000374583.1_Missense_Mutation_p.A114V|PJA1_ENST00000374584.3_Intron|PJA1_ENST00000477231.1_5'UTR	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	114							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						ATGTCCATAGGCCATTCCTCT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	72	74			NA	NA	X		NA											NA				68382741		2203	4300	6503	SO:0001583	missense			AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191	64219	64219		RING-type (C3HC4) zinc fingers	16648	protein-coding gene	gene with protein product		300420	praja 1, praja ring finger 1		NA	12036302	Standard	NM_145119	NM_001032396	NA	Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.341C>T	X.37:g.68382741G>A	ENSP00000355014:p.Ala114Val	NA	Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	37	CCDS14393.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399000	0.62177	.	.	ENSG00000181191	ENST00000396010;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T	0.13538	2.58;2.58;2.58	3.25	3.25	0.37280	.	0.160475	0.27821	U	0.017709	T	0.15435	0.0372	L	0.42245	1.32	0.29973	N	0.8184	P	0.51057	0.941	P	0.46172	0.506	T	0.03364	-1.1044	10	0.51188	T	0.08	-7.9662	11.8051	0.52150	0.0:0.0:1.0:0.0	.	114	Q8NG27	PJA1_HUMAN	V	59;114;114;59	ENSP00000363711:A114V;ENSP00000355014:A114V;ENSP00000363699:A59V	ENSP00000355014:A114V	A	-	2	0	PJA1	68299466	1.000000	0.71417	0.992000	0.48379	0.947000	0.59692	5.735000	0.68587	1.925000	0.55765	0.534000	0.68092	GCC	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057031.2		-	ENST00000361478.1	Missense_Mutation	SNP	X : 68382741 - 68382741 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	47
TRAPPC11	60684	broad.mit.edu	37	4	184614276	184614276	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184614276G>T	ENST00000334690.6	+	20	2415	c.2213G>T	c.(2212-2214)aGc>aTc	p.S738I	TRAPPC11_ENST00000357207.4_Missense_Mutation_p.S738I|TRAPPC11_ENST00000512476.1_Missense_Mutation_p.S344I	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	738				Missing (in Ref. 3; BAB14556).							NA						CACTGGGACAGCATTATAATT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	71	72			NA	NA	4		NA											NA				184614276		2203	4300	6503	SO:0001583	missense				CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538	60684	60684		Trafficking protein particle complex	25751	protein-coding gene	gene with protein product	gryzun homolog (Drosophila), foie gras homolog (zebrafish)	614138	chromosome 4 open reading frame 41	C4orf41	NA	19942856, 21525244	Standard	NM_021942	NM_021942	NA	Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.2213G>T	4.37:g.184614276G>T	ENSP00000335371:p.Ser738Ile	NA	A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	37	CCDS34112.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.479215	0.44044	.	.	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000360109;ENST00000512476	.	.	.	5.1	4.26	0.50523	.	0.313099	0.38897	N	0.001521	T	0.40956	0.1138	N	0.24115	0.695	0.47547	D	0.999452	B;P;P;P	0.45634	0.427;0.782;0.863;0.662	B;P;B;B	0.44623	0.399;0.455;0.444;0.316	T	0.22871	-1.0204	9	0.36615	T	0.2	.	10.423	0.44361	0.074:0.1348:0.7912:0.0	.	469;344;738;738	B3KR79;D6RHE5;Q7Z392;Q7Z392-3	.;.;TPC11_HUMAN;.	I	738;738;738;344	.	ENSP00000335371:S738I	S	+	2	0	C4orf41	184851270	1.000000	0.71417	0.993000	0.49108	0.800000	0.45204	3.779000	0.55379	1.376000	0.46267	0.650000	0.86243	AGC	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361654.2		+	ENST00000334690.6	Missense_Mutation	SNP	4 : 184614276 - 184614276 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	212	45
ARHGEF37	389337	broad.mit.edu	37	5	148998539	148998539	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148998539C>T	ENST00000333677.6	+	7	991	c.828C>T	c.(826-828)ttC>ttT	p.F276F		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	276	BAR.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						AAGAGAGGTTCCAGTGGGTGT	0.493		NA									OREG0016919	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													273	281	278			NA	NA	5		NA											NA				148998539		2016	4186	6202	SO:0001819	synonymous_variant			BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111	389337	389337		Rho guanine nucleotide exchange factors	34430	protein-coding gene	gene with protein product					NA		Standard	NM_001001669	XM_005268448	NA	Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.828C>T	5.37:g.148998539C>T		1721	Q6ZW51	37	CCDS43385.1																																																																																			ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373763.1		+	ENST00000333677.6	Silent	SNP	5 : 148998539 - 148998539 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1389	342
ZNF141	7700	broad.mit.edu	37	4	367647	367647	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:367647C>A	ENST00000240499.7	+	4	1570	c.1421C>A	c.(1420-1422)aCt>aAt	p.T474N	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	474					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						AAAATTCATACTTGAGAGAAA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	54	52			NA	NA	4		NA											NA				367647		2190	4287	6477	SO:0001583	missense			L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127	7700	7700		Zinc fingers, C2H2-type, -	12926	protein-coding gene	gene with protein product		194648	zinc finger protein 141 (clone pHZ-44)	D4S90	NA	8268908	Standard	NM_003441	NM_003441	NA	Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.1421C>A	4.37:g.367647C>A	ENSP00000240499:p.Thr474Asn	NA	Q6DK07	37	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004459	0.35320	.	.	ENSG00000131127	ENST00000240499	T	0.07444	3.19	1.24	-0.242	0.13039	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18425	0.0442	L	0.54863	1.705	0.23594	N	0.997339	D	0.76494	0.999	D	0.81914	0.995	T	0.11842	-1.0571	8	.	.	.	.	6.5311	0.22328	0.0:0.6973:0.3027:0.0	.	474	Q15928	ZN141_HUMAN	N	474	ENSP00000240499:T474N	.	T	+	2	0	ZNF141	357647	0.021000	0.18746	0.018000	0.16275	0.226000	0.24999	0.903000	0.28475	0.591000	0.29711	0.313000	0.20887	ACT	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357710.1		+	ENST00000240499.7	Missense_Mutation	SNP	4 : 367647 - 367647 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	435	79
RNF213	57674	broad.mit.edu	37	17	78346393	78346393	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78346393T>G	ENST00000508628.2	+	49	12902	c.12757T>G	c.(12757-12759)Ttc>Gtc	p.F4253V	RNF213_ENST00000582970.1_Missense_Mutation_p.F4204V|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.F2277V			Q9HCF4	ALO17_HUMAN	ring finger protein 213	238										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGAAGGTCGTTTCCTTAAGGC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	38	39			NA	NA	17		NA											NA				78346393		2203	4300	6503	SO:0001583	missense			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821	57674	57674		RING-type (C3HC4) zinc fingers	14539	protein-coding gene	gene with protein product		613768	chromosome 17 open reading frame 27, KIAA1618, moyamoya disease 2, Moyamoya disease 2	C17orf27, KIAA1618, MYMY2	NA	10997877, 21048783, 21799892	Standard	NM_020914	NM_020954	NA	Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000508628.2:c.12757T>G	17.37:g.78346393T>G	ENSP00000425956:p.Phe4253Val	NA	Q69YK7|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406	37		.	.	.	.	.	.	.	.	.	.	T	14.84	2.656634	0.47467	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.24723	1.84	5.29	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.50343	0.1610	M	0.81239	2.535	0.35309	D	0.783728	D;D	0.89917	0.999;1.0	D;D	0.85130	0.927;0.997	T	0.62817	-0.6774	10	0.46703	T	0.11	.	11.0367	0.47804	0.0:0.0737:0.0:0.9263	.	4253;2277	C9JCP4;Q63HN8	.;RN213_HUMAN	V	4204;4253;2277	ENSP00000338218:F2277V	ENSP00000338218:F2277V	F	+	1	0	RNF213	75960988	1.000000	0.71417	0.644000	0.29465	0.007000	0.05969	5.229000	0.65316	0.831000	0.34780	0.533000	0.62120	TTC	RNF213-001	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000364861.3		+	ENST00000508628.2	Missense_Mutation	SNP	17 : 78346393 - 78346393 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	163	19
PCED1A	64773	broad.mit.edu	37	20	2820524	2820524	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2820524C>T	ENST00000360652.2	-	2	537	c.35G>A	c.(34-36)cGc>cAc	p.R12H	PCED1A_ENST00000356872.3_Missense_Mutation_p.R12H	NM_022760.4	NP_073597.2			PC-esterase domain containing 1A	NA											NA						TCGCAGCGGGCGGCGCGGCTC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	77	79			NA	NA	20		NA											NA				2820524		2203	4300	6503	SO:0001583	missense			AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635	64773	64773			16212	protein-coding gene	gene with protein product			chromosome 20 open reading frame 81, family with sequence similarity 113, member A	C20orf81, FAM113A	NA	20056006	Standard	NM_022760	NM_022760	NA	Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.35G>A	20.37:g.2820524C>T	ENSP00000353868:p.Arg12His	NA		37	CCDS13035.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940443	0.52972	.	.	ENSG00000132635	ENST00000356872;ENST00000360652;ENST00000380531;ENST00000448755;ENST00000439542	T;T;T;T	0.48201	0.82;0.85;0.83;0.88	3.83	0.774	0.18521	.	0.377525	0.19589	N	0.110673	T	0.28433	0.0703	L	0.36672	1.1	0.26761	N	0.969998	P;P	0.47106	0.89;0.768	B;B	0.37480	0.251;0.178	T	0.21655	-1.0239	10	0.56958	D	0.05	-1.497	3.2938	0.06958	0.2196:0.5572:0.0:0.2232	.	12;12	Q9H1Q7-2;Q9H1Q7	.;F113A_HUMAN	H	12	ENSP00000349334:R12H;ENSP00000353868:R12H;ENSP00000388935:R12H;ENSP00000401711:R12H	ENSP00000349334:R12H	R	-	2	0	FAM113A	2768524	0.891000	0.30450	0.747000	0.31113	0.709000	0.40893	0.083000	0.14871	0.187000	0.20147	-0.140000	0.14226	CGC	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077676.2		-	ENST00000360652.2	Missense_Mutation	SNP	20 : 2820524 - 2820524 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	229	57
COL9A1	1297	broad.mit.edu	37	6	70972947	70972947	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70972947T>C	ENST00000357250.6	-	19	1553	c.1395A>G	c.(1393-1395)ccA>ccG	p.P465P	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Splice_Site_p.P222P|COL9A1_ENST00000370499.4_Splice_Site_p.P222P	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	465	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						aataCTTTACTGGAGGTCCTT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	35	34			NA	NA	6		NA											NA				70972947		2203	4299	6502	SO:0001630	splice_region_variant				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280	1297	1297		Proteoglycans / Extracellular Matrix : Collagen proteoglycans, Collagens	2217	protein-coding gene	gene with protein product		120210			NA	1429648	Standard		NM_001851	NA	Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.1395+1A>G	6.37:g.70972947T>C		NA	Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	37	CCDS4971.1																																																																																			COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041131.2	Silent	-	ENST00000357250.6	Splice_Site	SNP	6 : 70972947 - 70972947 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	160	31
SNAPC3	6619	broad.mit.edu	37	9	15422996	15422996	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:15422996G>A	ENST00000380821.3	+	1	295	c.119G>A	c.(118-120)cGc>cAc	p.R40H		NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	40					regulation of transcription, DNA-dependent|snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		CTAAATACGCGCGCTTTCCAT	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	25	24			NA	NA	9		NA											NA				15422996		2195	4291	6486	SO:0001583	missense			U71300	CCDS6478.1	9p22.3	2008-07-21	2002-08-29		ENSG00000164975	ENSG00000164975	6619	6619			11136	protein-coding gene	gene with protein product		602348	small nuclear RNA activating complex, polypeptide 3, 50kD		NA	9003788	Standard	NM_001039697	XR_428427	NA	Approved	SNAP50, PTFbeta, MGC33124, MGC132011	uc003zlt.3	Q92966	OTTHUMG00000019583	ENST00000380821.3:c.119G>A	9.37:g.15422996G>A	ENSP00000370200:p.Arg40His	NA	D3DRI8|Q2VPI6|Q5T285	37	CCDS6478.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860655	0.32884	.	.	ENSG00000164975	ENST00000380821;ENST00000380807;ENST00000447670;ENST00000421710	T	0.50813	0.73	5.36	2.33	0.28932	.	0.410761	0.27500	N	0.019097	T	0.39172	0.1068	L	0.51422	1.61	0.19775	N	0.999953	D;P	0.54047	0.964;0.832	B;B	0.43082	0.407;0.151	T	0.33369	-0.9871	10	0.72032	D	0.01	-15.0524	6.5701	0.22533	0.1793:0.1541:0.6666:0.0	.	40;40	B4DDR9;Q92966	.;SNPC3_HUMAN	H	40	ENSP00000370200:R40H	ENSP00000370185:R40H	R	+	2	0	SNAPC3	15412996	0.239000	0.23836	0.423000	0.26634	0.171000	0.22731	2.301000	0.43628	0.838000	0.34948	-0.304000	0.09214	CGC	SNAPC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051763.2		+	ENST00000380821.3	Missense_Mutation	SNP	9 : 15422996 - 15422996 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	95	19
PGLYRP2	114770	broad.mit.edu	37	19	15580712	15580712	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15580712A>G	ENST00000292609.4	-	4	1501	c.1372T>C	c.(1372-1374)Tac>Cac	p.Y458H	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.Y458H			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	458					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CGTCCCTCGTACACGTAGCCG	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	15	14			NA	NA	19		NA											NA				15580712		2179	4257	6436	SO:0001583	missense			AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	114770	114770	3.5.1.28		30013	protein-coding gene	gene with protein product	peptidoglycan recognition protein L precursor, peptidoglycan recognition protein-like, N-acetylmuramoyl-L-alanine amidase	608199			NA	11461926, 12669421, 14506276	Standard	NM_052890	NM_052890	NA	Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000292609.4:c.1372T>C	19.37:g.15580712A>G	ENSP00000292609:p.Tyr458His	NA	A8K8C7|B2RMZ2|Q68CK1|Q96N74|Q9UC60	37		.	.	.	.	.	.	.	.	.	.	A	26.0	4.691722	0.88735	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.16457	2.34;2.34	5.12	5.12	0.69794	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.000000	0.85682	D	0.000000	T	0.48589	0.1508	M	0.90145	3.09	0.51767	D	0.999933	D;D	0.89917	1.0;1.0	D;D	0.85130	0.987;0.997	T	0.58763	-0.7579	10	0.87932	D	0	-23.3948	12.8485	0.57844	1.0:0.0:0.0:0.0	.	458;458	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	H	458	ENSP00000345968:Y458H;ENSP00000292609:Y458H	ENSP00000292609:Y458H	Y	-	1	0	PGLYRP2	15441712	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.939000	0.87685	1.935000	0.56089	0.379000	0.24179	TAC	PGLYRP2-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000461335.2		-	ENST00000292609.4	Missense_Mutation	SNP	19 : 15580712 - 15580712 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	121	23
EIF4B	1975	broad.mit.edu	37	12	53421850	53421850	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53421850G>A	ENST00000420463.3	+	8	885	c.857G>A	c.(856-858)cGc>cAc	p.R286H	EIF4B_ENST00000416762.3_Missense_Mutation_p.R247H|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000262056.9_Missense_Mutation_p.R286H			P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	286	Arg-rich.|Asp-rich.				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						AGTGGGTATCGCAGGGATGAT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	84	82			NA	NA	12		NA											NA				53421850		1905	4129	6034	SO:0001583	missense			X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046	1975	1975		RNA binding motif (RRM) containing	3285	protein-coding gene	gene with protein product		603928			NA		Standard	NM_001417	XM_005268709	NA	Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000420463.3:c.857G>A	12.37:g.53421850G>A	ENSP00000388806:p.Arg286His	NA	Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	37		.	.	.	.	.	.	.	.	.	.	G	20.2	3.942603	0.73672	.	.	ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000430205;ENST00000416762;ENST00000549481;ENST00000552490	T;T;T;T	0.54675	0.56;0.56;0.61;0.69	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.71609	0.3360	M	0.74647	2.275	0.54753	D	0.999982	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.78314	0.991;0.98;0.98;0.98	T	0.75393	-0.3333	10	0.56958	D	0.05	.	16.088	0.81070	0.0:0.0:1.0:0.0	.	247;286;262;286	B4DS13;E7EX17;E7EPC9;P23588	.;.;.;IF4B_HUMAN	H	286;286;262;247;241;240	ENSP00000262056:R286H;ENSP00000388806:R286H;ENSP00000449746:R241H;ENSP00000450324:R240H	ENSP00000262056:R286H	R	+	2	0	EIF4B	51708117	1.000000	0.71417	0.986000	0.45419	0.965000	0.64279	9.089000	0.94137	2.292000	0.77174	0.655000	0.94253	CGC	EIF4B-007	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000404914.1		+	ENST00000420463.3	Missense_Mutation	SNP	12 : 53421850 - 53421850 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	511	21
C3orf79	152118	broad.mit.edu	37	3	153220229	153220229	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:153220229C>A	ENST00000446603.2	+	3	323	c.261C>A	c.(259-261)ggC>ggA	p.G87G	RP11-23D24.2_ENST00000493214.2_RNA	NM_001101337.1	NP_001094807.1	P0CE67	CC079_HUMAN	chromosome 3 open reading frame 79	87										endometrium(1)|large_intestine(3)	4						TACAGAGAGGCTCCTTTGCAA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	105	106			NA	NA	3		NA											NA				153220229		1857	4100	5957	SO:0001819	synonymous_variant			AF086445	CCDS46937.1	3q25.2	2009-09-30			ENSG00000237787	ENSG00000237787	152118	152118			37259	protein-coding gene	gene with protein product					NA		Standard	NM_001101337	NM_001101337	NA	Approved		uc003ezt.3	P0CE67	OTTHUMG00000159629	ENST00000446603.2:c.261C>A	3.37:g.153220229C>A		NA		37	CCDS46937.1																																																																																			C3orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356570.1		+	ENST00000446603.2	Silent	SNP	3 : 153220229 - 153220229 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	448	74
MAD2L1	4085	broad.mit.edu	37	4	120981442	120981442	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120981442G>A	ENST00000296509.6	-	5	788	c.449C>T	c.(448-450)tCa>tTa	p.S150L		NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)	NA	HORMA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity			breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						CAGATCAAATGAACCTAAATT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	44	45			NA	NA	4		NA											NA				120981442		2203	4300	6503	SO:0001583	missense			U65410	CCDS3715.1	4q27	2013-01-17	2001-11-28		ENSG00000164109	ENSG00000164109	4085	4085			6763	protein-coding gene	gene with protein product		601467	MAD2 (mitotic arrest deficient, yeast, homolog)-like 1		NA	8824189, 9345911	Standard		NM_002358	NA	Approved	MAD2, HSMAD2	uc003idl.2	Q13257	OTTHUMG00000132967	ENST00000296509.6:c.449C>T	4.37:g.120981442G>A	ENSP00000296509:p.Ser150Leu	NA	Q53F56|Q548X9|Q6IRW7	37	CCDS3715.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821885	0.90873	.	.	ENSG00000164109	ENST00000296509	.	.	.	5.13	5.13	0.70059	DNA-binding HORMA (4);	0.304482	0.34002	N	0.004354	T	0.75436	0.3849	M	0.77486	2.375	0.58432	D	0.999999	B	0.32800	0.385	B	0.42062	0.374	T	0.77373	-0.2612	9	0.59425	D	0.04	-4.4885	18.9343	0.92579	0.0:0.0:1.0:0.0	.	150	Q13257	MD2L1_HUMAN	L	150	.	ENSP00000296509:S150L	S	-	2	0	MAD2L1	121200890	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.265000	0.95647	2.542000	0.85734	0.591000	0.81541	TCA	MAD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256525.2		-	ENST00000296509.6	Missense_Mutation	SNP	4 : 120981442 - 120981442 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	149	10
LILRA5	353514	broad.mit.edu	37	19	54822915	54822915	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54822915G>T	ENST00000301219.3	-	5	600	c.481C>A	c.(481-483)Cag>Aag	p.Q161K	LILRA5_ENST00000446712.3_Missense_Mutation_p.Q149K|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000432233.3_Missense_Mutation_p.Q161K|LILRA5_ENST00000346508.3_Missense_Mutation_p.Q149K	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	161	Ig-like C2-type 2.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAGCCACACTGGAGGGTCACG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	76	76			NA	NA	19		NA											NA				54822915		2203	4300	6503	SO:0001583	missense			AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116	353514	353514		Leukocyte immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	16309	protein-coding gene	gene with protein product		606047		LILRB7	NA	10941842	Standard	NM_181985	NM_181986	NA	Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.481C>A	19.37:g.54822915G>T	ENSP00000301219:p.Gln161Lys	NA	A6NHI3	37	CCDS12888.1	.	.	.	.	.	.	.	.	.	.	G	6.794	0.515449	0.12944	.	.	ENSG00000187116	ENST00000301219;ENST00000346508;ENST00000446712;ENST00000432233	T;T;T;T	0.03181	4.02;4.02;4.02;4.02	3.14	2.04	0.26737	Immunoglobulin-like fold (1);	0.690178	0.11907	U	0.518010	T	0.05823	0.0152	M	0.68952	2.095	0.09310	N	1	B;B;B;B	0.29115	0.106;0.233;0.094;0.11	B;B;B;B	0.29077	0.071;0.056;0.03;0.098	T	0.27839	-1.0062	10	0.51188	T	0.08	.	7.5281	0.27666	0.0:0.0:0.7427:0.2573	.	149;161;149;161	A6NI73-4;A6NI73-3;A6NI73-2;A6NI73	.;.;.;LIRA5_HUMAN	K	161;149;149;161	ENSP00000301219:Q161K;ENSP00000302948:Q149K;ENSP00000389499:Q149K;ENSP00000404236:Q161K	ENSP00000301219:Q161K	Q	-	1	0	LILRA5	59514727	0.538000	0.26394	0.176000	0.23000	0.021000	0.10359	1.675000	0.37555	0.407000	0.25591	0.205000	0.17691	CAG	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000140231.1		-	ENST00000301219.3	Missense_Mutation	SNP	19 : 54822915 - 54822915 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	523	100
ARRB2	409	broad.mit.edu	37	17	4621244	4621244	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4621244C>T	ENST00000269260.2	+	8	780	c.547C>T	c.(547-549)Cct>Tct	p.P183S	ARRB2_ENST00000412477.3_Missense_Mutation_p.P204S|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000381488.6_Missense_Mutation_p.P168S|ARRB2_ENST00000575877.1_Missense_Mutation_p.P183S|ARRB2_ENST00000346341.2_Missense_Mutation_p.P168S|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000571206.1_5'UTR	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	183					cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CGGCCCCCAGCCTTCAGCCGA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	42	42			NA	NA	17		NA											NA				4621244		2203	4300	6503	SO:0001583	missense				CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480	409	409			712	protein-coding gene	gene with protein product	arrestin 3	107941		ARR2	NA	7695743	Standard	NM_004313	NM_001257329	NA	Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.547C>T	17.37:g.4621244C>T	ENSP00000269260:p.Pro183Ser	NA	B5B0C0|B7WPL3|D3DTK2|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	37	CCDS11050.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925126	0.92319	.	.	ENSG00000141480	ENST00000381488;ENST00000269260;ENST00000346341;ENST00000412477	T;T	0.20463	2.11;2.07	4.77	4.77	0.60923	Immunoglobulin E-set (1);Arrestin, C-terminal (1);	0.052944	0.85682	D	0.000000	T	0.45397	0.1340	M	0.76938	2.355	0.80722	D	1	D;D;D;D;D	0.76494	0.987;0.985;0.999;0.998;0.974	P;P;D;P;P	0.63381	0.696;0.75;0.914;0.846;0.641	T	0.48714	-0.9011	10	0.72032	D	0.01	-9.2716	15.3396	0.74284	0.0:1.0:0.0:0.0	.	204;168;183;168;183	B4DLW0;P32121-2;P32121-3;G5E980;P32121	.;.;.;.;ARRB2_HUMAN	S	183;183;168;184	ENSP00000269260:P183S;ENSP00000341895:P168S	ENSP00000269260:P183S	P	+	1	0	ARRB2	4567993	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.498000	0.81546	2.479000	0.83701	0.655000	0.94253	CCT	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000439552.1		+	ENST00000269260.2	Missense_Mutation	SNP	17 : 4621244 - 4621244 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	207	25
SMEK2	57223	broad.mit.edu	37	2	55825941	55825941	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55825941G>A	ENST00000272313.5	-	4	859	c.532C>T	c.(532-534)Ctg>Ttg	p.L178L	SMEK2_ENST00000345102.5_Silent_p.L178L|SMEK2_ENST00000407823.3_Silent_p.L178L	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	178						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCTTGGAACAGCTGCAATAGT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	83	81			NA	NA	2		NA											NA				55825941		2203	4300	6503	SO:0001819	synonymous_variant			AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041		57223	57223			29267	protein-coding gene	gene with protein product		610352			NA	16085932, 18614045	Standard	NM_020463	NM_001122964	NA	Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000272313.5:c.532C>T	2.37:g.55825941G>A		NA	Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	37	CCDS1855.1																																																																																			SMEK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251482.1		-	ENST00000272313.5	Silent	SNP	2 : 55825941 - 55825941 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	398	65
ZNF624	57547	broad.mit.edu	37	17	16537218	16537218	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16537218G>A	ENST00000311331.7	-	5	425	c.334C>T	c.(334-336)Cca>Tca	p.P112S	ZNF624_ENST00000579983.1_5'UTR	NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	112	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GTCACCCATGGTCCTTTCCCA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(186;1023 2134 13330 38202 39800)							NA				0													93	83	86			NA	NA	17		NA											NA				16537218		2203	4300	6503	SO:0001583	missense			AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566	57547	57547		Zinc fingers, C2H2-type, -	29254	protein-coding gene	gene with protein product					NA	10718198	Standard	XM_047617	NM_020787	NA	Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.334C>T	17.37:g.16537218G>A	ENSP00000310472:p.Pro112Ser	NA	Q3SY62|Q3SY63|Q6ZN27	37	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	G	9.855	1.194827	0.22037	.	.	ENSG00000197566	ENST00000311331	T	0.08282	3.11	3.63	2.65	0.31530	Krueppel-associated box (2);	.	.	.	.	T	0.20780	0.0500	L	0.59967	1.855	0.23673	N	0.997146	D	0.89917	1.0	D	0.79108	0.992	T	0.03695	-1.1012	9	0.36615	T	0.2	.	8.7679	0.34713	0.118:0.0:0.882:0.0	.	112	Q9P2J8	ZN624_HUMAN	S	112	ENSP00000310472:P112S	ENSP00000310472:P112S	P	-	1	0	ZNF624	16477943	0.999000	0.42202	1.000000	0.80357	0.914000	0.54420	3.196000	0.51020	2.046000	0.60703	0.591000	0.81541	CCA	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130512.3		-	ENST00000311331.7	Missense_Mutation	SNP	17 : 16537218 - 16537218 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	232	21
DSG1	1828	broad.mit.edu	37	18	28934818	28934818	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28934818C>T	ENST00000257192.4	+	15	2871	c.2659C>T	c.(2659-2661)Cga>Tga	p.R887*	DSG1_ENST00000462981.2_Nonsense_Mutation_p.R246*|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	887					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GCCTGACTTGCGAGATGGGTC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	156	159			NA	NA	18		NA											NA				28934818		2203	4300	6503	SO:0001587	stop_gained			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760	1828	1828		Cadherins / Major cadherins	3048	protein-coding gene	gene with protein product		125670		DSG	NA	1889810	Standard	NM_001942	NM_001942	NA	Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.2659C>T	18.37:g.28934818C>T	ENSP00000257192:p.Arg887*	NA		37	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	C	38	6.653377	0.97739	.	.	ENSG00000134760	ENST00000257192	.	.	.	6.02	4.87	0.63330	.	0.236364	0.38217	N	0.001767	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.5659	0.33538	0.5489:0.3835:0.0675:0.0	.	.	.	.	X	887	.	ENSP00000257192:R887X	R	+	1	2	DSG1	27188816	0.998000	0.40836	0.999000	0.59377	0.854000	0.48673	2.019000	0.41001	1.113000	0.41760	-0.262000	0.10625	CGA	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254947.1		+	ENST00000257192.4	Nonsense_Mutation	SNP	18 : 28934818 - 28934818 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	736	138
RNF220	55182	broad.mit.edu	37	1	45079892	45079892	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45079892C>A	ENST00000355387.2	+	3	1131	c.681C>A	c.(679-681)tgC>tgA	p.C227*	RNF220_ENST00000443020.2_5'UTR|RNF220_ENST00000372247.2_Nonsense_Mutation_p.C227*|RNF220_ENST00000361799.2_Nonsense_Mutation_p.C227*			Q5VTB9	RN220_HUMAN	ring finger protein 220	227					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						GCCCCATCTGCCAGGTCCTGC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	90	91			NA	NA	1		NA											NA				45079892		2203	4300	6503	SO:0001587	stop_gained			AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147	55182	55182		RING-type (C3HC4) zinc fingers	25552	protein-coding gene	gene with protein product			chromosome 1 open reading frame 164	C1orf164	NA	11042152	Standard	NM_018150	NM_018150	NA	Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.681C>A	1.37:g.45079892C>A	ENSP00000347548:p.Cys227*	NA	B3KPJ3|Q4KMX2|Q9NVP6	37	CCDS510.1	.	.	.	.	.	.	.	.	.	.	C	36	5.960329	0.97145	.	.	ENSG00000187147	ENST00000355387;ENST00000361799;ENST00000453887;ENST00000372247	.	.	.	5.14	1.22	0.21188	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.1671	0.20396	0.1204:0.6103:0.0:0.2693	.	.	.	.	X	227	.	ENSP00000347548:C227X	C	+	3	2	RNF220	44852479	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	2.174000	0.42482	0.072000	0.16694	-0.145000	0.13849	TGC	RNF220-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000020683.4		+	ENST00000355387.2	Nonsense_Mutation	SNP	1 : 45079892 - 45079892 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	630	65
KIF27	55582	broad.mit.edu	37	9	86518816	86518816	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86518816C>T	ENST00000297814.2	-	4	760	c.617G>A	c.(616-618)aGa>aAa	p.R206K	KIF27_ENST00000413982.1_Missense_Mutation_p.R206K|KIF27_ENST00000334204.2_Missense_Mutation_p.R206K	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	206	Kinesin-motor.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TGCATGTGATCTGCTGGAGTG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													208	203	205			NA	NA	9		NA											NA				86518816		2203	4300	6503	SO:0001583	missense			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115	55582	55582		Kinesins	18632	protein-coding gene	gene with protein product		611253			NA		Standard	NM_017576	NM_017576	NA	Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.617G>A	9.37:g.86518816C>T	ENSP00000297814:p.Arg206Lys	NA	B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	37	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796143	0.90453	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	D;D;D	0.86432	-2.12;-2.12;-2.12	5.57	4.62	0.57501	Kinesin, motor domain (5);	0.000000	0.56097	D	0.000024	D	0.96870	0.8978	H	0.99887	4.895	0.45899	D	0.998744	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.74023	0.962;0.982;0.98	D	0.98374	1.0555	10	0.87932	D	0	.	15.9098	0.79463	0.0:0.8647:0.1353:0.0	.	206;206;206	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	K	206	ENSP00000297814:R206K;ENSP00000401688:R206K;ENSP00000333928:R206K	ENSP00000297814:R206K	R	-	2	0	KIF27	85708636	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	6.041000	0.70988	2.610000	0.88304	0.591000	0.81541	AGA	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052861.1		-	ENST00000297814.2	Missense_Mutation	SNP	9 : 86518816 - 86518816 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1202	159
PTGES3L-AARSD1	100885850	broad.mit.edu	37	17	41116151	41116151	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41116151G>A	ENST00000421990.2	-	7	1010	c.665C>T	c.(664-666)aCa>aTa	p.T222I	PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.T161I|AARSD1_ENST00000427569.2_Missense_Mutation_p.T48I|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.T131I|AARSD1_ENST00000416949.1_5'UTR|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.T222I	NM_001136042.2	NP_001129514.2			PTGES3L-AARSD1 readthrough	NA											NA						GAAAAGCACTGTGTCTTCCAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	107	113			NA	NA	17		NA											NA				41116151		2203	4300	6503	SO:0001583	missense					17q21.31	2012-10-05			ENSG00000108825	ENSG00000108825	100885850	100885850			43946	other	readthrough					NA		Standard	NM_025267	NM_001136042	NA	Approved		uc010whg.2	Q9BTE6	OTTHUMG00000180905	ENST00000421990.2:c.665C>T	17.37:g.41116151G>A	ENSP00000409924:p.Thr222Ile	NA		37	CCDS45691.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.126002|5.126002	0.94429|0.94429	.|.	.|.	ENSG00000108825|ENSG00000108825	ENST00000441280;ENST00000430739|ENST00000360221;ENST00000409399;ENST00000421990;ENST00000427569;ENST00000409103	.|D;D;D;D;D	.|0.88586	.|-2.4;-2.4;-2.4;-2.4;-2.4	5.07|5.07	5.07|5.07	0.68467|0.68467	.|Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	.|0.064498	.|0.64402	.|D	.|0.000008	.|D	.|0.96895	.|0.8986	H|H	0.98682|0.98682	4.3|4.3	.|.	.|.	.|.	.|D;D;D;D;D	.|0.89917	.|0.996;0.998;0.998;0.998;1.0	.|D;D;D;D;D	.|0.81914	.|0.943;0.984;0.984;0.979;0.995	.|D	.|0.98556	.|1.0639	.|9	.|0.87932	.|D	.|0	-15.2197|-15.2197	17.5942|17.5942	0.88006|0.88006	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|161;222;131;179;48	.|Q9BTE6-2;B4DI73;C9J5N1;B3KSP9;Q9BTE6	.|.;.;.;.;AASD1_HUMAN	X|I	54|161;222;222;48;131	.|ENSP00000353355:T161I;ENSP00000386621:T222I;ENSP00000409924:T222I;ENSP00000400870:T48I;ENSP00000386254:T131I	.|ENSP00000353355:T161I	Q|T	-|-	1|2	0|0	AARSD1|AARSD1	38369677|38369677	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.788000|0.788000	0.44548|0.44548	8.878000|8.878000	0.92393|0.92393	2.497000|2.497000	0.84241|0.84241	0.442000|0.442000	0.29010|0.29010	CAG|ACA	PTGES3L-AARSD1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|readthrough_transcript|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453578.1		-	ENST00000421990.2	Missense_Mutation	SNP	17 : 41116151 - 41116151 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	511	96
PROZ	8858	broad.mit.edu	37	13	113813025	113813025	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113813025C>T	ENST00000342783.4	+	1	58	c.51C>T	c.(49-51)ctC>ctT	p.L17L	PROZ_ENST00000375547.2_Silent_p.L17L	NM_001256134.1	NP_001243063.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	17					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	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;0.216)	all cancers(43;0.104)		Menadione(DB00170)	TCCTCGCCCTCCATCGTGTGG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	77	93			NA	NA	13		NA											NA				113813025		2203	4300	6503	SO:0001819	synonymous_variant			M55670	CCDS9531.1, CCDS58300.1	13q34	2008-07-18			ENSG00000126231	ENSG00000126231	8858	8858			9460	protein-coding gene	gene with protein product		176895			NA	2244898, 2403355	Standard	NM_003891	NM_001256134	NA	Approved	PZ	uc010agr.2	P22891	OTTHUMG00000017376	ENST00000342783.4:c.51C>T	13.37:g.113813025C>T		NA	A6NMB4|Q15213|Q5JVF5|Q5JVF6	37	CCDS58300.1																																																																																			PROZ-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045846.1		+	ENST00000342783.4	Silent	SNP	13 : 113813025 - 113813025 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	70	11
KIF18B	146909	broad.mit.edu	37	17	43013546	43013546	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43013546C>T	ENST00000593135.1	-	2	264	c.167G>A	c.(166-168)gGc>gAc	p.G56D	KIF18B_ENST00000590129.1_Missense_Mutation_p.G65D|KIF18B_ENST00000587309.1_Missense_Mutation_p.G56D|KIF18B_ENST00000339151.4_Missense_Mutation_p.G56D|KIF18B_ENST00000438933.2_Missense_Mutation_p.G56D	NM_001265577.1	NP_001252506.1			kinesin family member 18B	NA										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				ATCATGGGTGCCACCCCATTT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	29	28			NA	NA	17		NA											NA				43013546		2018	4170	6188	SO:0001583	missense				CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185		146909	146909		Kinesins	27102	protein-coding gene	gene with protein product		614570			NA	16084724	Standard	NM_001080443	NM_001264573	NA	Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.167G>A	17.37:g.43013546C>T	ENSP00000465992:p.Gly56Asp	NA		37	CCDS45709.2	.	.	.	.	.	.	.	.	.	.	C	9.509	1.105267	0.20632	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.74737	-0.87;-0.87	5.46	4.48	0.54585	Kinesin, motor domain (4);	0.883608	0.09370	N	0.811513	T	0.63815	0.2543	L	0.39514	1.22	0.09310	N	1	B;B;B	0.27013	0.166;0.137;0.137	B;B;B	0.29440	0.102;0.062;0.062	T	0.51608	-0.8684	10	0.12430	T	0.62	.	7.3631	0.26758	0.1691:0.7461:0.0:0.0847	.	65;65;65	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	D	56	ENSP00000412798:G56D;ENSP00000341466:G56D	ENSP00000341466:G56D	G	-	2	0	KIF18B	40369072	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	-0.144000	0.10280	1.428000	0.47296	0.555000	0.69702	GGC	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448724.1		-	ENST00000593135.1	Missense_Mutation	SNP	17 : 43013546 - 43013546 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	131	27
NR4A3	8013	broad.mit.edu	37	9	102590550	102590550	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:102590550G>A	ENST00000330847.1	+	2	303	c.259G>A	c.(259-261)Gtg>Atg	p.V87M	NR4A3_ENST00000338488.4_Missense_Mutation_p.V76M|NR4A3_ENST00000395097.2_Missense_Mutation_p.V76M			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	76					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)		NA		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GCCTTCCTGCGTGTACCAAAT	0.602		NA	T	EWSR1	extraskeletal myxoid chondrosarcoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		9	9q22	8013	nuclear receptor subfamily 4, group A, member 3 (NOR1)		M	0													95	80	85			NA	NA	9		NA											NA				102590550		2203	4300	6503	SO:0001583	missense			U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508	NA	8013		Nuclear hormone receptors	7982	protein-coding gene	gene with protein product		600542			NA	8614405	Standard		NM_006981	NA	Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000330847.1:c.259G>A	9.37:g.102590550G>A	ENSP00000333122:p.Val87Met	NA	A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	37	CCDS6742.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.514878	0.44763	.	.	ENSG00000119508	ENST00000395097;ENST00000338488;ENST00000330847	D;D;D	0.91068	-2.76;-2.33;-2.78	5.47	2.57	0.30868	.	3.416260	0.01217	N	0.007998	T	0.81659	0.4869	N	0.08118	0	0.28909	N	0.892828	B;B;B	0.31459	0.117;0.071;0.324	B;B;B	0.23716	0.048;0.022;0.048	T	0.73503	-0.3962	10	0.72032	D	0.01	.	7.4995	0.27509	0.0:0.5911:0.2697:0.1391	.	87;76;76	Q92570-3;Q92570;Q92570-2	.;NR4A3_HUMAN;.	M	76;76;87	ENSP00000378531:V76M;ENSP00000340301:V76M;ENSP00000333122:V87M	ENSP00000333122:V87M	V	+	1	0	NR4A3	101630371	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.037000	0.30241	0.341000	0.23771	-0.357000	0.07601	GTG	NR4A3-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055484.2		+	ENST00000330847.1	Missense_Mutation	SNP	9 : 102590550 - 102590550 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	437	63
DAPK1	1612	broad.mit.edu	37	9	90258300	90258300	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:90258300C>T	ENST00000491893.1	+	10	1001	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C	DAPK1_ENST00000408954.3_Missense_Mutation_p.R310C|DAPK1_ENST00000469640.2_Missense_Mutation_p.R310C|DAPK1_ENST00000358077.5_Missense_Mutation_p.R310C|DAPK1_ENST00000472284.1_Missense_Mutation_p.R310C			P53355	DAPK1_HUMAN	death-associated protein kinase 1	310	Calmodulin-binding.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GCAATCCGTTCGCTTGATATC	0.428		NA							Chronic Lymphocytic Leukemia, Familial Clustering of					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	59	61			NA	NA	9		NA											NA				90258300		1854	4096	5950	SO:0001583	missense	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730	1612	1612		Ankyrin repeat domain containing	2674	protein-coding gene	gene with protein product		600831			NA	8530096	Standard	NM_004938	XM_005251757	NA	Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000491893.1:c.928C>T	9.37:g.90258300C>T	ENSP00000419026:p.Arg310Cys	NA	B7ZLD2|Q14CQ7|Q1W5W0|Q68CP8|Q9BTL8	37		.	.	.	.	.	.	.	.	.	.	C	32	5.173017	0.94807	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.68331	-0.32;-0.32;-0.31;-0.32;-0.29	5.45	5.45	0.79879	Protein kinase-like domain (1);	0.000000	0.52532	D	0.000072	T	0.76040	0.3932	L	0.40543	1.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;P;P	0.64595	0.927;0.879;0.595	T	0.77747	-0.2472	10	0.87932	D	0	.	19.6632	0.95882	0.0:1.0:0.0:0.0	.	310;310;310	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	C	310	ENSP00000350785:R310C;ENSP00000417076:R310C;ENSP00000418885:R310C;ENSP00000386135:R310C;ENSP00000419026:R310C	ENSP00000350785:R310C	R	+	1	0	DAPK1	89448120	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.681000	0.84073	2.716000	0.92895	0.655000	0.94253	CGC	DAPK1-011	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000356844.1		+	ENST00000491893.1	Missense_Mutation	SNP	9 : 90258300 - 90258300 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	149	20
CCDC163P	126661	broad.mit.edu	37	1	45960780	45960780	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45960780C>A	ENST00000432082.1	-	5	753	c.389G>T	c.(388-390)aGa>aTa	p.R130I	CCDC163P_ENST00000502793.2_5'UTR|CCDC163P_ENST00000490551.3_3'UTR					coiled-coil domain containing 163, pseudogene	NA										cervix(1)|endometrium(1)	2						GCTTAAGACTCTGGGCATGGA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	114	116			NA	NA	1		NA											NA				45960780		1878	4096	5974	SO:0001583	missense			BC047421		1p34.1	2010-06-14	2009-12-17	2009-12-17	ENSG00000236624	ENSG00000236624	126661	126661			27003	pseudogene	pseudogene			chromosome 1 open reading frame 231	C1orf231	NA	18672041	Standard	NM_001102601	NR_033296	NA	Approved	LOC126661	uc001cnw.3		OTTHUMG00000007741	ENST00000432082.1:c.389G>T	1.37:g.45960780C>A	ENSP00000435596:p.Arg130Ile	NA		37		.	.	.	.	.	.	.	.	.	.	C	12.63	1.994796	0.35226	.	.	ENSG00000236624	ENST00000432082	.	.	.	4.43	2.54	0.30619	.	.	.	.	.	T	0.29158	0.0725	.	.	.	0.09310	N	0.999999	B	0.26809	0.16	B	0.21917	0.037	T	0.25257	-1.0137	7	0.87932	D	0	.	5.5075	0.16862	0.1967:0.7027:0.0:0.1006	.	130	F2Z3K3	.	I	130	.	ENSP00000435596:R130I	R	-	2	0	CCDC163P	45733367	0.191000	0.23288	0.004000	0.12327	0.350000	0.29205	0.472000	0.22116	0.796000	0.33947	0.609000	0.83330	AGA	CCDC163P-006	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000349850.4		-	ENST00000432082.1	Missense_Mutation	SNP	1 : 45960780 - 45960780 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	403	42
ISG20L2	81875	broad.mit.edu	37	1	156694029	156694029	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156694029G>T	ENST00000313146.6	-	2	1641	c.859C>A	c.(859-861)Ccc>Acc	p.P287T	ISG20L2_ENST00000368219.1_Missense_Mutation_p.P287T|ISG20L2_ENST00000472824.2_5'UTR	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	287	Exonuclease.				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTGAGGGGGGGGATATGGGAG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	91	89			NA	NA	1		NA											NA				156694029		2203	4300	6503	SO:0001583	missense			AK095697	CCDS1153.1	1q23.1	2013-10-11			ENSG00000143319	ENSG00000143319	81875	81875			25745	protein-coding gene	gene with protein product		611930			NA	18065403	Standard	NM_030980	NM_030980	NA	Approved	FLJ12671	uc001fps.1	Q9H9L3	OTTHUMG00000041301	ENST00000313146.6:c.859C>A	1.37:g.156694029G>T	ENSP00000323424:p.Pro287Thr	NA	D3DVC6|Q64KA2	37	CCDS1153.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326395	0.81690	.	.	ENSG00000143319	ENST00000313146;ENST00000368219	T;T	0.28666	1.6;1.6	5.73	5.73	0.89815	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.061390	0.64402	D	0.000003	T	0.49081	0.1536	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.30765	-0.9967	10	0.24483	T	0.36	.	18.4663	0.90757	0.0:0.0:1.0:0.0	.	287	Q9H9L3	I20L2_HUMAN	T	287	ENSP00000323424:P287T;ENSP00000357202:P287T	ENSP00000323424:P287T	P	-	1	0	ISG20L2	154960653	1.000000	0.71417	0.206000	0.23566	0.874000	0.50279	9.332000	0.96446	2.722000	0.93159	0.655000	0.94253	CCC	ISG20L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000098969.1		-	ENST00000313146.6	Missense_Mutation	SNP	1 : 156694029 - 156694029 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	584	53
ARAP3	64411	broad.mit.edu	37	5	141041335	141041335	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141041335C>T	ENST00000508305.1	-	20	2777	c.2528G>A	c.(2527-2529)cGc>cAc	p.R843H	ARAP3_ENST00000239440.4_Missense_Mutation_p.R1012H|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Missense_Mutation_p.R674H			Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1012					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TTTCTCCAGGCGCTGATTCTT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	75	73			NA	NA	5		NA											NA				141041335		2203	4300	6503	SO:0001583	missense			AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318	64411	64411		ADP-ribosylation factor GTPase activating proteins, Sterile alpha motif (SAM) domain containing, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing	24097	protein-coding gene	gene with protein product		606647	centaurin, delta 3	CENTD3	NA	11804589, 12015138	Standard	NM_022481	XM_005268497	NA	Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000508305.1:c.2528G>A	5.37:g.141041335C>T	ENSP00000421826:p.Arg843His	NA	D3DQE3	37		.	.	.	.	.	.	.	.	.	.	C	34	5.408784	0.96072	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.22743	1.94;1.94;1.94	5.33	5.33	0.75918	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.061089	0.64402	D	0.000011	T	0.59252	0.2180	M	0.93763	3.455	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.989;0.989	T	0.70059	-0.4976	10	0.87932	D	0	.	18.8077	0.92045	0.0:1.0:0.0:0.0	.	674;843;1012	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	H	843;1012;674	ENSP00000421826:R843H;ENSP00000239440:R1012H;ENSP00000421468:R674H	ENSP00000239440:R1012H	R	-	2	0	ARAP3	141021519	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.156000	0.77453	2.777000	0.95525	0.655000	0.94253	CGC	ARAP3-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000373653.2		-	ENST00000508305.1	Missense_Mutation	SNP	5 : 141041335 - 141041335 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	729	150
APBB3	10307	broad.mit.edu	37	5	139938323	139938323	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139938323C>A	ENST00000357560.4	-	13	1751	c.1308G>T	c.(1306-1308)aaG>aaT	p.K436N	APBB3_ENST00000412920.3_Missense_Mutation_p.K434N|APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000354402.5_Missense_Mutation_p.K443N|APBB3_ENST00000508496.2_Missense_Mutation_p.K213N|APBB3_ENST00000356738.2_Missense_Mutation_p.K441N	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	436	PID 2.					actin cytoskeleton|cytoplasm				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGGTCCGCTTGAGCCGCA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	32	30			NA	NA	5		NA											NA				139938323		2199	4294	6493	SO:0001583	missense			AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108	10307	10307			20708	protein-coding gene	gene with protein product		602711			NA	9407065	Standard	NM_006051	NM_133172	NA	Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.1308G>T	5.37:g.139938323C>A	ENSP00000350171:p.Lys436Asn	NA	B3KQN9|Q08AG4|Q9NYX6|Q9NYX7|Q9NYX8	37	CCDS4229.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.601921	0.66445	.	.	ENSG00000113108	ENST00000356738;ENST00000354402;ENST00000357560;ENST00000508496;ENST00000412920	T;T;T;T;T	0.52057	1.69;1.69;1.7;0.68;1.7	4.76	2.93	0.34026	.	0.567069	0.17031	N	0.189702	T	0.40398	0.1115	L	0.44542	1.39	0.80722	D	1	D;P	0.55800	0.973;0.943	P;P	0.47864	0.559;0.522	T	0.21008	-1.0258	9	.	.	.	-7.5614	4.3405	0.11108	0.0:0.6128:0.2073:0.1799	.	434;441	O95704-2;O95704-3	.;.	N	441;443;436;213;434	ENSP00000349177:K441N;ENSP00000346378:K443N;ENSP00000350171:K436N;ENSP00000444013:K213N;ENSP00000402591:K434N	.	K	-	3	2	APBB3	139918507	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.707000	0.37888	0.973000	0.38340	0.455000	0.32223	AAG	APBB3-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251677.2		-	ENST00000357560.4	Missense_Mutation	SNP	5 : 139938323 - 139938323 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	419	37
MSTO1	55154	broad.mit.edu	37	1	155581999	155581999	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155581999C>T	ENST00000245564.2	+	8	729	c.705C>T	c.(703-705)caC>caT	p.H235H	MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000368341.4_Silent_p.H200H|MSTO1_ENST00000483734.1_3'UTR	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	235					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					GTGACCTGCACGATGGCTTCT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	44	43			NA	NA	1		NA											NA				155581999		2201	4300	6501	SO:0001819	synonymous_variant			BX537684	CCDS1114.1	1q22	2013-08-21	2013-08-21		ENSG00000125459	ENSG00000125459	55154	55154			29678	protein-coding gene	gene with protein product			misato homolog 1 (Drosophila)		NA	16545939, 17349998	Standard	NM_018116	NM_018116	NA	Approved	FLJ10504, LST005, MST, misato	uc001fky.4	Q9BUK6	OTTHUMG00000014014	ENST00000245564.2:c.705C>T	1.37:g.155581999C>T		NA	Q53GR8|Q5CZ69|Q5T717|Q68CT6|Q7LBZ8|Q7Z3M7|Q7Z558|Q8TE05|Q9NQX2|Q9NVU4	37	CCDS1114.1																																																																																			MSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039408.1		+	ENST00000245564.2	Silent	SNP	1 : 155581999 - 155581999 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	397	60
TRO	7216	broad.mit.edu	37	X	54955207	54955207	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54955207G>A	ENST00000173898.7	+	12	2162	c.2050G>A	c.(2050-2052)Gat>Aat	p.D684N	TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.D215N|TRO_ENST00000375041.2_Missense_Mutation_p.D287N	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	684					embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						ggATGACATGGATATCGACTG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	58	57			NA	NA	X		NA											NA				54955207		2106	4238	6344	SO:0001583	missense			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445	7216	7216			12326	protein-coding gene	gene with protein product		300132			NA	9533028, 11454705	Standard	NM_016157	NM_001039705	NA	Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.2050G>A	X.37:g.54955207G>A	ENSP00000173898:p.Asp684Asn	NA	Q9NU89|Q9UPN8	37	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.164907	0.38217	.	.	ENSG00000067445	ENST00000173898;ENST00000420798;ENST00000375041	T;T;T	0.10192	3.49;2.9;3.2	2.95	2.95	0.34219	.	.	.	.	.	T	0.13457	0.0326	L	0.36672	1.1	0.31987	N	0.60514	D;D	0.65815	0.995;0.995	P;P	0.53185	0.72;0.72	T	0.10965	-1.0607	9	0.87932	D	0	.	5.2406	0.15469	0.1614:0.0:0.8386:0.0	.	287;684	B1AKE9;Q12816	.;TROP_HUMAN	N	684;215;287	ENSP00000173898:D684N;ENSP00000405126:D215N;ENSP00000364181:D287N	ENSP00000173898:D684N	D	+	1	0	TRO	54971932	0.813000	0.29090	0.994000	0.49952	0.847000	0.48162	1.099000	0.31013	1.744000	0.51775	0.544000	0.68410	GAT	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056837.3		+	ENST00000173898.7	Missense_Mutation	SNP	X : 54955207 - 54955207 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	148	37
CCT5	22948	broad.mit.edu	37	5	10256191	10256191	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10256191C>T	ENST00000280326.4	+	4	876	c.456C>T	c.(454-456)agC>agT	p.S152S	CCT5_ENST00000503026.1_Silent_p.S131S|CCT5_ENST00000515390.1_Silent_p.S97S|CCT5_ENST00000515676.1_Silent_p.S114S|CCT5_ENST00000506600.1_Silent_p.S59S	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	152					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						ACAAGATCAGCGATAGCGTCC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	75	83			NA	NA	5		NA											NA				10256191		2203	4300	6503	SO:0001819	synonymous_variant			D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753	22948	22948		Heat Shock Proteins / Chaperonins	1618	protein-coding gene	gene with protein product		610150			NA		Standard		NM_012073	NA	Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.456C>T	5.37:g.10256191C>T		NA	A8JZY8	37	CCDS3877.1																																																																																			CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253688.2		+	ENST00000280326.4	Silent	SNP	5 : 10256191 - 10256191 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	161	17
OR4Q3	441669	broad.mit.edu	37	14	20215653	20215653	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20215653C>T	ENST00000331723.1	+	1	67	c.67C>T	c.(67-69)Ctg>Ttg	p.L23L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCTTGGGAGCTGCAGCTATT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	158	157			NA	NA	14		NA											NA				20215653		2203	4300	6503	SO:0001819	synonymous_variant			AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652	441669	441669		GPCR / Class A : Olfactory receptors	15426	protein-coding gene	gene with protein product				OR4Q4	NA		Standard		NM_172194	NA	Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.67C>T	14.37:g.20215653C>T		NA	Q6IEX4	37	CCDS32020.1																																																																																			OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409818.2		+	ENST00000331723.1	Silent	SNP	14 : 20215653 - 20215653 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	821	98
ZFYVE20	64145	broad.mit.edu	37	3	15118571	15118571	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15118571G>T	ENST00000253699.3	-	12	1712	c.1099C>A	c.(1099-1101)Cag>Aag	p.Q367K	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.Q367K	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	367	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GGCTTTACCTGCACAAAAAGT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	149	152			NA	NA	3		NA											NA				15118571		2203	4300	6503	SO:0001583	missense			AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381	64145	64145		Zinc fingers, FYVE domain containing	20759	protein-coding gene	gene with protein product		609511			NA	11062261	Standard	NM_022340	XR_427283	NA	Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.1099C>A	3.37:g.15118571G>T	ENSP00000253699:p.Gln367Lys	NA	Q3KP30|Q59EY8|Q8NAQ1	37	CCDS2623.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733087	0.69189	.	.	ENSG00000131381	ENST00000253699;ENST00000476527;ENST00000418832	T;T	0.58210	0.35;0.35	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.53318	0.1789	L	0.36672	1.1	0.80722	D	1	P	0.44044	0.825	P	0.45856	0.495	T	0.48490	-0.9031	10	0.41790	T	0.15	-27.1303	20.2704	0.98474	0.0:0.0:1.0:0.0	.	367	Q9H1K0	RBNS5_HUMAN	K	367;367;69	ENSP00000253699:Q367K;ENSP00000422551:Q367K	ENSP00000253699:Q367K	Q	-	1	0	ZFYVE20	15093575	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.617000	0.98361	2.793000	0.96121	0.591000	0.81541	CAG	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252102.2		-	ENST00000253699.3	Missense_Mutation	SNP	3 : 15118571 - 15118571 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	285	63
FRMPD3	84443	broad.mit.edu	37	X	106765713	106765713	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:106765713C>A	ENST00000276185.4	+	1	34	c.34C>A	c.(34-36)Cgc>Agc	p.R12S	FRMPD3-AS1_ENST00000415252.1_RNA			Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	12						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GGTCCAGGACCGTGAGTGGGA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	38	40			NA	NA	X		NA											NA				106765713		876	1991	2867	SO:0001630	splice_region_variant			AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234	84443	84443			29382	protein-coding gene	gene with protein product					NA	11347906	Standard	XM_042978	NM_032428	NA	Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.34+1C>A	X.37:g.106765713C>A		NA	Q96JK8	37		.	.	.	.	.	.	.	.	.	.	c	10.54	1.378593	0.24944	.	.	ENSG00000147234	ENST00000276185	T	0.15017	2.46	3.06	2.15	0.27550	.	.	.	.	.	T	0.09905	0.0243	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.28744	-1.0034	7	0.87932	D	0	.	7.1009	0.25336	0.0:0.7242:0.2758:0.0	.	.	.	.	S	12	ENSP00000276185:R12S	ENSP00000276185:R12S	R	+	1	0	FRMPD3	106652369	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.073000	0.14640	0.649000	0.30751	0.411000	0.27672	CGC	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding		Missense_Mutation	+	ENST00000276185.4	Splice_Site	SNP	X : 106765713 - 106765713 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	132	25
TNR	7143	broad.mit.edu	37	1	175365935	175365935	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175365935G>T	ENST00000367674.2	-	5	1693	c.985C>A	c.(985-987)Cca>Aca	p.P329T	TNR_ENST00000263525.2_Missense_Mutation_p.P329T			Q92752	TENR_HUMAN	tenascin R	NA	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AAGTCCTCTGGAGGGGCAACT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	77	76			NA	NA	1		NA											NA				175365935		2203	4300	6503	SO:0001583	missense			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147	7143	7143		Fibrinogen C domain containing, Fibronectin type III domain containing	11953	protein-coding gene	gene with protein product	restrictin, janusin	601995			NA	8626505, 8940128	Standard	NM_003285	NM_003285	NA	Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.985C>A	1.37:g.175365935G>T	ENSP00000356646:p.Pro329Thr	NA	C9J563|Q15568|Q5R3G0	37	CCDS1318.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.291601|4.291601	0.80914|0.80914	.|.	.|.	ENSG00000116147|ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673|ENST00000422274	T;T|.	0.79845|.	-1.31;-1.31|.	5.95|5.95	5.95|5.95	0.96441|0.96441	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.060171|.	0.64402|.	D|.	0.000003|.	D|D	0.84442|0.84442	0.5473|0.5473	M|M	0.87269|0.87269	2.87|2.87	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.59767|.	0.986|.	D|.	0.65573|.	0.936|.	D|D	0.85106|0.85106	0.0960|0.0960	10|5	0.72032|.	D|.	0.01|.	.|.	19.9698|19.9698	0.97280|0.97280	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	329|.	Q92752|.	TENR_HUMAN|.	T|Y	329|53	ENSP00000356646:P329T;ENSP00000263525:P329T|.	ENSP00000263525:P329T|.	P|S	-|-	1|2	0|0	TNR|TNR	173632558|173632558	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.286000|3.286000	0.51724|0.51724	2.817000|2.817000	0.96982|0.96982	0.563000|0.563000	0.77884|0.77884	CCA|TCC	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084414.4		-	ENST00000367674.2	Missense_Mutation	SNP	1 : 175365935 - 175365935 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	743	101
RFTN1	23180	broad.mit.edu	37	3	16450939	16450939	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:16450939G>A	ENST00000334133.4	-	4	656	c.384C>T	c.(382-384)tgC>tgT	p.C128C	RFTN1_ENST00000432519.1_Silent_p.C92C	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	128						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						AGGAGGAACAGCAATCTAATT	0.423		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	164	154	157		384	5.5	1	3		157	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RFTN1	NM_015150.1		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		128/579	16450939	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378	23180	23180			30278	protein-coding gene	gene with protein product	raft-linking protein				NA	7788527, 12805216	Standard	NM_015150	NM_015150	NA	Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.384C>T	3.37:g.16450939G>A		NA	Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	37	CCDS33712.1																																																																																			RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346908.1		-	ENST00000334133.4	Silent	SNP	3 : 16450939 - 16450939 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	415	16
CACNA1S	779	broad.mit.edu	37	1	201031168	201031168	+	Missense_Mutation	SNP	C	C	T	rs140453525	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201031168C>T	ENST00000362061.3	-	24	3183	c.2957G>A	c.(2956-2958)cGt>cAt	p.R986H	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R986H	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	986					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTCGCGGTGACGCAGCTCTAT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	149	100	117		2957	0.6	0.3	1	dbSNP_134	117	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CACNA1S	NM_000069.2	29	0,4,6499	TT,TC,CC	NA	0.0116,0.0681,0.0308	benign	986/1874	201031168	4,13002	2203	4300	6503	SO:0001583	missense			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248	779	779		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3	NA	7916735, 16382099	Standard	NM_000069	NM_000069	NA	Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.2957G>A	1.37:g.201031168C>T	ENSP00000355192:p.Arg986His	NA	A4IF51|B1ALM2|Q12896|Q13934	37	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	C	5.823	0.336023	0.11013	6.81E-4	1.16E-4	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98474	-4.95;-4.95	5.17	0.617	0.17619	Ion transport (1);	0.602245	0.18535	N	0.138397	D	0.94624	0.8267	L	0.37897	1.145	0.09310	N	0.999996	B	0.06786	0.001	B	0.10450	0.005	D	0.89262	0.3598	10	0.49607	T	0.09	.	6.3595	0.21420	0.0:0.4259:0.0:0.5741	.	986	Q13698	CAC1S_HUMAN	H	986	ENSP00000355192:R986H;ENSP00000356307:R986H	ENSP00000355192:R986H	R	-	2	0	CACNA1S	199297791	0.004000	0.15560	0.349000	0.25694	0.003000	0.03518	0.206000	0.17375	0.288000	0.22398	-0.736000	0.03550	CGT	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087049.1		-	ENST00000362061.3	Missense_Mutation	SNP	1 : 201031168 - 201031168 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	182	44
DST	667	broad.mit.edu	37	6	56504351	56504351	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56504351G>A	ENST00000361203.3	-	17	2130	c.2123C>T	c.(2122-2124)gCg>gTg	p.A708V	DST_ENST00000370769.4_Missense_Mutation_p.A708V|DST_ENST00000421834.2_Missense_Mutation_p.A708V|DST_ENST00000370765.6_Missense_Mutation_p.A382V|DST_ENST00000446842.2_Missense_Mutation_p.A382V|DST_ENST00000518935.1_Missense_Mutation_p.A382V|DST_ENST00000370754.5_Missense_Mutation_p.A886V|DST_ENST00000244364.6_Missense_Mutation_p.A382V|DST_ENST00000370788.2_Missense_Mutation_p.A708V|DST_ENST00000312431.6_Missense_Mutation_p.A708V			Q03001	DYST_HUMAN	dystonin	708					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCATTAGTCGCACGACTTAC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	103	102			NA	NA	6		NA											NA				56504351		2203	4300	6503	SO:0001583	missense			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914	667	667		EF-hand domain containing	1090	protein-coding gene	gene with protein product		113810	bullous pemphigoid antigen 1, 230/240kDa	BPAG1	NA	2461961, 2276744	Standard	NM_001723	NM_001144770	NA	Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.2123C>T	6.37:g.56504351G>A	ENSP00000354508:p.Ala708Val	NA	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	37		.	.	.	.	.	.	.	.	.	.	G	25.9	4.681009	0.88542	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;D;D;T;D;T;T;D;T;T;T;T	0.94650	0.35;-3.48;-3.48;0.35;-3.48;0.35;0.35;-3.48;0.35;0.35;0.35;0.35	5.34	5.34	0.76211	.	0.000000	0.51477	D	0.000081	D	0.96676	0.8915	M	0.76433	2.335	0.33387	D	0.575589	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0	D;D;P;D;D;D;D;D;P;D	0.83275	0.979;0.933;0.826;0.933;0.991;0.975;0.986;0.996;0.779;0.986	D	0.94922	0.8074	9	0.33141	T	0.24	.	19.2334	0.93849	0.0:0.0:1.0:0.0	.	737;708;708;886;824;382;382;382;708;382	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	V	382;886;708;708;382;708;708;708;382;748;382;382	ENSP00000244364:A382V;ENSP00000359790:A886V;ENSP00000359805:A708V;ENSP00000400883:A708V;ENSP00000393645:A382V;ENSP00000307959:A708V;ENSP00000359824:A708V;ENSP00000354508:A708V;ENSP00000404924:A382V;ENSP00000431030:A748V;ENSP00000359801:A382V;ENSP00000431003:A382V	ENSP00000244364:A382V	A	-	2	0	DST	56612310	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.657000	0.98554	2.781000	0.95711	0.650000	0.86243	GCG	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000041021.3		-	ENST00000361203.3	Missense_Mutation	SNP	6 : 56504351 - 56504351 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	559	104
NUP50	10762	broad.mit.edu	37	22	45567527	45567527	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45567527C>A	ENST00000347635.4	+	3	582	c.116C>A	c.(115-117)gCc>gAc	p.A39D	NUP50_ENST00000486184.1_3'UTR|NUP50_ENST00000425733.2_5'UTR|NUP50_ENST00000396096.2_Missense_Mutation_p.A11D|NUP50_ENST00000407019.2_Missense_Mutation_p.A11D	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	NA					carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AAGAATAGAGCCATAAAGAAA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	113	115			NA	NA	22		NA											NA				45567527		2203	4300	6503	SO:0001583	missense			AF107840	CCDS14062.1, CCDS14063.1	22q13.3	2007-01-22	2002-08-29		ENSG00000093000	ENSG00000093000	10762	10762			8065	protein-coding gene	gene with protein product		604646	nucleoporin 50kD	NPAP60L	NA	10449902	Standard		XM_005261312	NA	Approved		uc003bfr.3	Q9UKX7	OTTHUMG00000151265	ENST00000347635.4:c.116C>A	22.37:g.45567527C>A	ENSP00000345895:p.Ala39Asp	NA	B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5	37	CCDS14062.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342059	0.81911	.	.	ENSG00000093000	ENST00000347635;ENST00000407019;ENST00000424634;ENST00000430547;ENST00000396096;ENST00000422489	.	.	.	4.82	4.82	0.62117	Nuclear pore complex, NUP2/50/61 (1);	0.115168	0.64402	D	0.000018	T	0.69205	0.3085	M	0.68317	2.08	0.80722	D	1	D	0.61697	0.99	D	0.63703	0.917	T	0.65471	-0.6160	9	0.22109	T	0.4	-14.7002	13.265	0.60128	0.1587:0.8413:0.0:0.0	.	39	Q9UKX7	NUP50_HUMAN	D	39;11;39;39;11;39	.	ENSP00000345895:A39D	A	+	2	0	NUP50	43946191	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.659000	0.74412	2.384000	0.81235	0.563000	0.77884	GCC	NUP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321993.2		+	ENST00000347635.4	Missense_Mutation	SNP	22 : 45567527 - 45567527 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	539	83
HTR3B	9177	broad.mit.edu	37	11	113780108	113780108	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113780108A>G	ENST00000260191.2	+	2	401	c.144A>G	c.(142-144)agA>agG	p.R48R	HTR3B_ENST00000537778.1_Silent_p.R37R	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	48					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		AAGAAGTGAGACCTGTTTACA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	108	116			NA	NA	11		NA											NA				113780108		2201	4296	6497	SO:0001819	synonymous_variant			AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305	9177	9177		5-HT (serotonin) receptors, Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic	5298	protein-coding gene	gene with protein product		604654	5-hydroxytryptamine (serotonin) receptor 3B		NA	9950429, 10521471	Standard	NM_006028	NM_006028	NA	Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.144A>G	11.37:g.113780108A>G		NA	B0YJ23|Q0VJC3	37	CCDS8364.1																																																																																			HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398842.1		+	ENST00000260191.2	Silent	SNP	11 : 113780108 - 113780108 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	346	58
POLL	27343	broad.mit.edu	37	10	103342623	103342623	+	Missense_Mutation	SNP	C	C	T	rs146112511		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103342623C>T	ENST00000370162.3	-	7	1585	c.1091G>A	c.(1090-1092)cGc>cAc	p.R364H	POLL_ENST00000339310.3_Missense_Mutation_p.R87H|POLL_ENST00000370169.1_Missense_Mutation_p.R364H|POLL_ENST00000370168.3_Missense_Mutation_p.R37H|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370158.3_Missense_Mutation_p.R89H|DPCD_ENST00000416979.2_Intron|POLL_ENST00000299206.4_Missense_Mutation_p.R364H|POLL_ENST00000370172.1_Missense_Mutation_p.R276H|POLL_ENST00000456836.2_Missense_Mutation_p.R101H	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	364					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		GGCCTGGCTGCGGATGTCTTC	0.552		NA						DNA polymerases (catalytic subunits)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	96	86	89		1091,815,1091	1.1	0.7	10	dbSNP_134	89	0,8600		0,0,4300	no	missense,missense,missense	POLL	NM_001174084.1,NM_001174085.1,NM_013274.3	29,29,29	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	364/576,272/484,364/576	103342623	1,13005	2203	4300	6503	SO:0001583	missense			AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169	27343	27343		DNA polymerases	9184	protein-coding gene	gene with protein product		606343			NA	17686665	Standard	NM_013274	NM_001174084	NA	Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.1091G>A	10.37:g.103342623C>T	ENSP00000359181:p.Arg364His	NA	D3DR76|Q5JQP5|Q6NUM2|Q9HA10|Q9HB35	37	CCDS7513.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.259113	0.59321	2.27E-4	0.0	ENSG00000166169	ENST00000299206;ENST00000370174;ENST00000370169;ENST00000339310;ENST00000370172;ENST00000370168;ENST00000370162;ENST00000370158;ENST00000370157;ENST00000456836;ENST00000415897;ENST00000429502	T;T;T;T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.61	1.09	0.20402	DNA-directed DNA polymerase X (1);DNA polymerase lambda, fingers domain (2);	0.162814	0.56097	N	0.000024	T	0.67683	0.2919	M	0.89840	3.065	0.80722	D	1	P;D;D;D;D;D	0.76494	0.929;0.981;0.996;0.998;0.999;0.959	B;B;P;P;P;B	0.60949	0.388;0.42;0.727;0.605;0.881;0.42	T	0.73726	-0.3892	10	0.72032	D	0.01	-29.7121	11.8579	0.52449	0.0:0.7193:0.0:0.2807	.	87;101;89;364;272;37	Q5JQP4;B4DEF5;Q9BTN8;Q9UGP5;A8K860;Q9HBN3	.;.;.;DPOLL_HUMAN;.;.	H	364;364;364;87;276;37;364;89;364;101;272;87	ENSP00000299206:R364H;ENSP00000359188:R364H;ENSP00000343102:R87H;ENSP00000359191:R276H;ENSP00000359187:R37H;ENSP00000359181:R364H;ENSP00000359177:R89H;ENSP00000390810:R101H;ENSP00000400676:R272H;ENSP00000406791:R87H	ENSP00000299206:R364H	R	-	2	0	POLL	103332613	1.000000	0.71417	0.691000	0.30163	0.953000	0.61014	1.076000	0.30729	0.307000	0.22880	0.555000	0.69702	CGC	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049946.1		-	ENST00000370162.3	Missense_Mutation	SNP	10 : 103342623 - 103342623 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	486	110
MEGF6	1953	broad.mit.edu	37	1	3413807	3413807	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3413807G>T	ENST00000356575.4	-	27	3697	c.3471C>A	c.(3469-3471)ggC>ggA	p.G1157G	MEGF6_ENST00000294599.4_Silent_p.G966G	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1157	EGF-like 21.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CCTGCTCGCAGCCGGAGCCAG	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(73;978 3658)							NA				0													12	18	16			NA	NA	1		NA											NA				3413807		2086	4211	6297	SO:0001819	synonymous_variant			AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591	1953	1953			3232	protein-coding gene	gene with protein product		604266	EGF-like-domain, multiple 3	EGFL3	NA	9693030	Standard	NM_001409	NM_001409	NA	Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.3471C>A	1.37:g.3413807G>T		NA	Q4AC86|Q5VV39	37	CCDS41237.1																																																																																			MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354866.1		-	ENST00000356575.4	Silent	SNP	1 : 3413807 - 3413807 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	258	53
MYOM3	127294	broad.mit.edu	37	1	24406591	24406591	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24406591G>A	ENST00000374434.3	-	20	2663	c.2501C>T	c.(2500-2502)aCa>aTa	p.T834I	RP11-293P20.4_ENST00000429191.1_RNA|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000329601.7_Missense_Mutation_p.T834I|MYOM3_ENST00000330966.7_Missense_Mutation_p.T835I	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	834	Fibronectin type-III 5.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GTGATAGCCTGTGACAGGCCC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	63	61			NA	NA	1		NA											NA				24406591		1950	4148	6098	SO:0001583	missense			AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661	127294	127294		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	26679	protein-coding gene	gene with protein product			myomesin family, member 3		NA	18177667	Standard	NM_152372	NM_152372	NA	Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.2501C>T	1.37:g.24406591G>A	ENSP00000363557:p.Thr834Ile	NA	A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	37	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.587235	0.28268	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.59638	0.25;0.25;0.25	5.51	5.51	0.81932	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.56834	0.2012	M	0.63208	1.945	0.41796	D	0.989896	B;B	0.19817	0.026;0.039	B;B	0.28709	0.093;0.045	T	0.53556	-0.8422	10	0.33141	T	0.24	.	13.684	0.62504	0.0735:0.0:0.9265:0.0	.	834;834	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	I	834;835;834	ENSP00000363557:T834I;ENSP00000332670:T835I;ENSP00000328415:T834I	ENSP00000328415:T834I	T	-	2	0	MYOM3	24279178	1.000000	0.71417	0.965000	0.40720	0.012000	0.07955	4.261000	0.58841	2.600000	0.87896	0.655000	0.94253	ACA	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000008272.2		-	ENST00000374434.3	Missense_Mutation	SNP	1 : 24406591 - 24406591 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	411	41
OTX2	5015	broad.mit.edu	37	14	57268778	57268778	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:57268778G>T	ENST00000339475.5	-	5	845	c.569C>A	c.(568-570)gCt>gAt	p.A190D	OTX2_ENST00000555006.1_Missense_Mutation_p.A182D|OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000554559.1_3'UTR|OTX2_ENST00000408990.3_Missense_Mutation_p.A182D	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	182					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					ATAACCTGAAGCCTGAGTATA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	109	112			NA	NA	14		NA											NA				57268778		2203	4300	6503	SO:0001583	missense			AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588	5015	5015		Homeoboxes / PRD class	8522	protein-coding gene	gene with protein product		600037	orthodenticle homolog 2 (Drosophila)		NA	7959790	Standard	NM_021728.	NM_021728	NA	Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000339475.5:c.569C>A	14.37:g.57268778G>T	ENSP00000343819:p.Ala190Asp	NA	B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	37	CCDS9728.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010981	0.54361	.	.	ENSG00000165588	ENST00000339475;ENST00000408990;ENST00000555006;ENST00000554845	D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37	6.06	5.17	0.71159	Transcription factor Otx, C-terminal (1);	0.000000	0.42053	D	0.000764	D	0.91915	0.7440	M	0.78049	2.395	0.80722	D	1	P;P	0.49696	0.927;0.775	P;P	0.51742	0.678;0.67	D	0.92564	0.6060	10	0.66056	D	0.02	.	14.119	0.65175	0.0723:0.0:0.9277:0.0	.	190;182	F1T0D1;P32243	.;OTX2_HUMAN	D	190;182;182;190	ENSP00000343819:A190D;ENSP00000386185:A182D;ENSP00000452336:A182D;ENSP00000451357:A190D	ENSP00000343819:A190D	A	-	2	0	OTX2	56338531	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	1.576000	0.49790	0.655000	0.94253	GCT	OTX2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276926.3		-	ENST00000339475.5	Missense_Mutation	SNP	14 : 57268778 - 57268778 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	385	80
TLR3	7098	broad.mit.edu	37	4	187004176	187004176	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187004176G>T	ENST00000504367.1	+	2	915	c.505G>T	c.(505-507)Gaa>Taa	p.E169*	TLR3_ENST00000296795.3_Nonsense_Mutation_p.E446*			O15455	TLR3_HUMAN	toll-like receptor 3	446					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	p.E446*(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		AATTGGGCAAGAACTCACAGG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Nonsense(1)	large_intestine(1)											63	60	61			NA	NA	4		NA											NA				187004176		2203	4300	6503	SO:0001587	stop_gained			U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342	7098	7098		CD molecules	11849	protein-coding gene	gene with protein product		603029			NA	9435236	Standard		NM_003265	NA	Approved	CD283	uc003iyq.3	O15455		ENST00000504367.1:c.505G>T	4.37:g.187004176G>T	ENSP00000423684:p.Glu169*	NA	Q4VAL2	37		.	.	.	.	.	.	.	.	.	.	G	37	6.300725	0.97453	.	.	ENSG00000164342	ENST00000296795;ENST00000542020;ENST00000504367	.	.	.	5.78	2.94	0.34122	.	0.508073	0.24012	N	0.042375	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	3.6193	0.08089	0.2006:0.1151:0.5659:0.1184	.	.	.	.	X	446;446;169	.	ENSP00000296795:E446X	E	+	1	0	TLR3	187241170	0.361000	0.24972	0.991000	0.47740	0.946000	0.59487	1.072000	0.30678	0.766000	0.33244	0.557000	0.71058	GAA	TLR3-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000360345.2		+	ENST00000504367.1	Nonsense_Mutation	SNP	4 : 187004176 - 187004176 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	374	55
NFATC2	4773	broad.mit.edu	37	20	50048864	50048864	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50048864C>T	ENST00000371564.3	-	9	2681	c.2462G>A	c.(2461-2463)cGc>cAc	p.R821H	NFATC2_ENST00000609507.1_Missense_Mutation_p.R602H|NFATC2_ENST00000414705.1_Missense_Mutation_p.R801H|NFATC2_ENST00000609943.1_Missense_Mutation_p.R801H|NFATC2_ENST00000396009.3_Missense_Mutation_p.R821H|NFATC2_ENST00000610033.1_Missense_Mutation_p.R602H	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	821					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GCTTCCGCAGCGCAGCTGCTG	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,HIS/ARG,HIS/ARG	0,4406		0,0,2203	55	56	55		2402,2462,2462	5.5	1	20		55	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	NFATC2	NM_001136021.1,NM_012340.3,NM_173091.2	29,29,29	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	801/902,821/922,821/926	50048864	1,13005	2203	4300	6503	SO:0001583	missense			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096	4773	4773		Nuclear factor of activated T-cells	7776	protein-coding gene	gene with protein product		600490			NA	8202141	Standard	NM_012340	NM_012340	NA	Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000371564.3:c.2462G>A	20.37:g.50048864C>T	ENSP00000360619:p.Arg821His	NA	Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	37	CCDS33488.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023731	0.75390	0.0	1.16E-4	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.16457	2.34;2.35;2.36	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.32285	0.0824	L	0.40543	1.245	0.40106	D	0.976437	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;P	0.78314	0.945;0.991;0.948;0.899	T	0.03077	-1.1075	10	0.11485	T	0.65	-26.03	19.3156	0.94211	0.0:1.0:0.0:0.0	.	801;801;821;821	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	H	821;821;801	ENSP00000360619:R821H;ENSP00000379330:R821H;ENSP00000396471:R801H	ENSP00000360619:R821H	R	-	2	0	NFATC2	49482271	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	5.589000	0.67523	2.567000	0.86603	0.655000	0.94253	CGC	NFATC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079729.2		-	ENST00000371564.3	Missense_Mutation	SNP	20 : 50048864 - 50048864 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	616	63
RBMX2	51634	broad.mit.edu	37	X	129546425	129546425	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129546425G>A	ENST00000305536.6	+	6	636	c.572G>A	c.(571-573)cGc>cAc	p.R191H		NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	191	Lys-rich.						nucleotide binding|RNA binding			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						TCACCCAGACGCAAGACAGTA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	55	55			NA	NA	X		NA											NA				129546425		1960	4131	6091	SO:0001583	missense			AF078865	CCDS43993.1	Xq26.1	2013-02-12			ENSG00000134597	ENSG00000134597	51634	51634		RNA binding motif (RRM) containing	24282	protein-coding gene	gene with protein product					NA	10810093	Standard	NM_016024	NM_016024	NA	Approved	CGI-79	uc004evt.3	Q9Y388	OTTHUMG00000022395	ENST00000305536.6:c.572G>A	X.37:g.129546425G>A	ENSP00000339090:p.Arg191His	NA	A8K9Z0|Q5JY82|Q9Y3I8	37	CCDS43993.1	.	.	.	.	.	.	.	.	.	.	G	5.481	0.273812	0.10403	.	.	ENSG00000134597	ENST00000305536;ENST00000538614	T	0.12984	2.63	4.31	1.46	0.22682	.	0.761838	0.13093	N	0.414413	T	0.05823	0.0152	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.01281	0.0	T	0.33854	-0.9852	10	0.48119	T	0.1	.	2.6917	0.05122	0.2525:0.0:0.5178:0.2297	.	191	Q9Y388	RBMX2_HUMAN	H	191	ENSP00000339090:R191H	ENSP00000339090:R191H	R	+	2	0	RBMX2	129374106	0.006000	0.16342	0.278000	0.24718	0.031000	0.12232	0.308000	0.19314	0.358000	0.24211	0.600000	0.82982	CGC	RBMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058265.1		+	ENST00000305536.6	Missense_Mutation	SNP	X : 129546425 - 129546425 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	403	82
NFATC4	4776	broad.mit.edu	37	14	24843536	24843536	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24843536G>T	ENST00000413692.2	+	7	2070	c.1926G>T	c.(1924-1926)caG>caT	p.Q642H	NFATC4_ENST00000554966.1_Missense_Mutation_p.Q592H|NFATC4_ENST00000553708.1_Missense_Mutation_p.Q579H|NFATC4_ENST00000555590.1_Missense_Mutation_p.Q592H|NFATC4_ENST00000557767.1_5'UTR|NFATC4_ENST00000554050.1_Missense_Mutation_p.Q579H|NFATC4_ENST00000555393.1_5'UTR|NFATC4_ENST00000557451.1_Missense_Mutation_p.Q509H|NFATC4_ENST00000556279.1_Missense_Mutation_p.Q611H|NFATC4_ENST00000424781.2_Missense_Mutation_p.Q592H|NFATC4_ENST00000555802.1_5'UTR|NFATC4_ENST00000554344.1_Missense_Mutation_p.Q509H|NFATC4_ENST00000555167.1_Missense_Mutation_p.Q114H|NFATC4_ENST00000556759.1_Missense_Mutation_p.Q114H|NFATC4_ENST00000555453.1_Missense_Mutation_p.Q567H|NFATC4_ENST00000554591.1_Missense_Mutation_p.Q642H|NFATC4_ENST00000556169.1_Missense_Mutation_p.Q567H|NFATC4_ENST00000553469.1_Missense_Mutation_p.Q611H|NFATC4_ENST00000554661.1_Missense_Mutation_p.Q509H|NFATC4_ENST00000422617.3_Missense_Mutation_p.Q567H|NFATC4_ENST00000553879.1_Missense_Mutation_p.Q509H|NFATC4_ENST00000539237.2_Missense_Mutation_p.Q611H|NFATC4_ENST00000250373.4_Missense_Mutation_p.Q579H|NFATC4_ENST00000554473.1_Missense_Mutation_p.Q114H	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	579	IPT/TIG.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CTGCAGCCCAGCGCTCAGCCC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	28	29			NA	NA	14		NA											NA				24843536		2203	4300	6503	SO:0001583	missense			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968	4776	4776		Nuclear factor of activated T-cells	7778	protein-coding gene	gene with protein product		602699			NA	7749981	Standard	NM_004554	NM_004554	NA	Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000413692.2:c.1926G>T	14.37:g.24843536G>T	ENSP00000388910:p.Gln642His	NA	B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	37	CCDS45089.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907924	0.72868	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453;ENST00000554473;ENST00000556759;ENST00000555167	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.1	5.1	0.69264	Rel homology (1);p53-like transcription factor, DNA-binding (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.69620	0.3131	M	0.87547	2.89	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.997;0.999;0.999;1.0;0.999;0.999;1.0;1.0;1.0;1.0;0.999;0.999;0.998	D;D;D;D;D;D;D;D;D;D;D;D;D	0.83275	0.991;0.994;0.991;0.996;0.991;0.982;0.996;0.996;0.996;0.996;0.982;0.991;0.96	T	0.73936	-0.3825	10	0.87932	D	0	-6.7569	9.4289	0.38597	0.0935:0.0:0.9065:0.0	.	567;567;611;611;592;592;592;642;642;567;611;642;579	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	H	642;642;592;592;592;611;611;611;579;579;579;509;509;509;567;509;567;567;114;114;114	ENSP00000388910:Q642H;ENSP00000452039:Q642H;ENSP00000451224:Q592H;ENSP00000450644:Q592H;ENSP00000388668:Q592H;ENSP00000439350:Q611H;ENSP00000452270:Q611H;ENSP00000451502:Q611H;ENSP00000451151:Q579H;ENSP00000250373:Q579H;ENSP00000450590:Q579H;ENSP00000452349:Q509H;ENSP00000450469:Q509H;ENSP00000450733:Q509H;ENSP00000451454:Q567H;ENSP00000451284:Q509H;ENSP00000396788:Q567H;ENSP00000450686:Q567H;ENSP00000450810:Q114H;ENSP00000451183:Q114H;ENSP00000451395:Q114H	ENSP00000250373:Q579H	Q	+	3	2	NFATC4	23913376	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.629000	0.46485	2.644000	0.89710	0.655000	0.94253	CAG	NFATC4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414125.2		+	ENST00000413692.2	Missense_Mutation	SNP	14 : 24843536 - 24843536 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	184	35
STAT4	6775	broad.mit.edu	37	2	191905836	191905836	+	Silent	SNP	C	C	T	rs145312304		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191905836C>T	ENST00000392320.2	-	15	1604	c.1290G>A	c.(1288-1290)acG>acA	p.T430T	STAT4_ENST00000470708.1_5'UTR|STAT4_ENST00000358470.4_Silent_p.T430T	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	430					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GTGTTTCAAACGTTATGGAAT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								T		3,4403	6.2+/-15.9	0,3,2200	136	128	131		1290	0.9	1	2	dbSNP_134	131	0,8600		0,0,4300	no	coding-synonymous	STAT4	NM_003151.3		0,3,6500	TT,TC,CC	NA	0.0,0.0681,0.0231		430/749	191905836	3,13003	2203	4300	6503	SO:0001819	synonymous_variant				CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378	6775	6775		SH2 domain containing	11365	protein-coding gene	gene with protein product		600558			NA	8007943, 8700208	Standard	NM_003151	NM_003151	NA	Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.1290G>A	2.37:g.191905836C>T		NA	Q96NZ6	37	CCDS2310.1																																																																																			STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335586.1		-	ENST00000392320.2	Silent	SNP	2 : 191905836 - 191905836 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	636	150
OGDH	4967	broad.mit.edu	37	7	44685096	44685096	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44685096G>A	ENST00000449767.1	+	3	483	c.393G>A	c.(391-393)caG>caA	p.Q131Q	OGDH_ENST00000439616.2_Intron|OGDH_ENST00000444676.1_Silent_p.Q131Q|OGDH_ENST00000222673.5_Silent_p.Q131Q|OGDH_ENST00000543843.1_Silent_p.Q71Q|OGDH_ENST00000447398.1_Silent_p.Q131Q|OGDH_ENST00000443864.2_Silent_p.Q131Q	NM_001165036.1	NP_001158508.1	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	131					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TGGCAGTGCAGTCGCTCATCA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	54	58			NA	NA	7		NA											NA				44685096		2203	4300	6503	SO:0001819	synonymous_variant			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	4967	4967	1.2.4.2		8124	protein-coding gene	gene with protein product		613022			NA	8020988, 1542694	Standard		NM_002541	NA	Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000449767.1:c.393G>A	7.37:g.44685096G>A		NA	D3DVL0|Q9UDX0	37	CCDS55107.1																																																																																			OGDH-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339392.1		+	ENST00000449767.1	Silent	SNP	7 : 44685096 - 44685096 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	364	70
RAI1	10743	broad.mit.edu	37	17	17700276	17700276	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17700276G>A	ENST00000353383.1	+	3	4483	c.4014G>A	c.(4012-4014)tcG>tcA	p.S1338S	RAI1_ENST00000261641.6_Silent_p.S1338S	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1338						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AGATCACCTCGCCCAGCCTCA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	72	69			NA	NA	17		NA											NA				17700276		2203	4300	6503	SO:0001819	synonymous_variant			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557	10743	10743			9834	protein-coding gene	gene with protein product		607642	Smith-Magenis syndrome chromosome region	SMCR	NA	10036180	Standard	NM_030665	NM_030665	NA	Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.4014G>A	17.37:g.17700276G>A		NA	Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	37	CCDS11188.1																																																																																			RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131775.1		+	ENST00000353383.1	Silent	SNP	17 : 17700276 - 17700276 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	880	175
ATP13A5	344905	broad.mit.edu	37	3	193036817	193036817	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193036817T>C	ENST00000342358.4	-	17	2113	c.1996A>G	c.(1996-1998)Aag>Gag	p.K666E		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	666					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTCCCCATCTTTAAGGTTTTG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	141	141			NA	NA	3		NA											NA				193036817		2203	4300	6503	SO:0001583	missense			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527	344905	344905		ATPases / P-type	31789	protein-coding gene	gene with protein product					NA		Standard	NM_198505	NM_198505	NA	Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.1996A>G	3.37:g.193036817T>C	ENSP00000341942:p.Lys666Glu	NA	Q6UWS4|Q6ZWL0	37	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.678550	0.00751	.	.	ENSG00000187527	ENST00000342358	T	0.69561	-0.41	5.89	5.89	0.94794	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.607321	0.17170	N	0.184335	T	0.35038	0.0918	N	0.02296	-0.605	0.09310	N	0.999996	B	0.06786	0.001	B	0.11329	0.006	T	0.27938	-1.0059	10	0.02654	T	1	-2.4489	8.7358	0.34528	0.0:0.0835:0.0:0.9165	.	666	Q4VNC0	AT135_HUMAN	E	666	ENSP00000341942:K666E	ENSP00000341942:K666E	K	-	1	0	ATP13A5	194519511	0.372000	0.25064	0.047000	0.18901	0.004000	0.04260	1.395000	0.34520	2.251000	0.74343	0.533000	0.62120	AAG	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343012.1		-	ENST00000342358.4	Missense_Mutation	SNP	3 : 193036817 - 193036817 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	755	146
FNDC1	84624	broad.mit.edu	37	6	159687142	159687142	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159687142G>A	ENST00000297267.9	+	21	5511	c.5311G>A	c.(5311-5313)Gct>Act	p.A1771T	FNDC1_ENST00000340366.6_Missense_Mutation_p.A1708T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1771						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GATCCCATTCGCTTTCAAACA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA	0,4032		0,0,2016	122	118	119		5311	0.1	1	6		119	1,8365		0,1,4182	no	missense	FNDC1	NM_032532.2	58	0,1,6198	AA,AG,GG	NA	0.012,0.0,0.0081	benign	1771/1895	159687142	1,12397	2016	4183	6199	SO:0001583	missense			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694	84624	84624		Fibronectin type III domain containing	21184	protein-coding gene	gene with protein product		609991	fibronectin type III domain containing 2	FNDC2	NA	11347906	Standard	NM_032532	NM_032532	NA	Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.5311G>A	6.37:g.159687142G>A	ENSP00000297267:p.Ala1771Thr	NA	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	37	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.48|13.48	2.248751|2.248751	0.39797|0.39797	0.0|0.0	1.2E-4|1.2E-4	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.42131|.	0.98;0.98|.	5.87|5.87	0.12|0.12	0.14691|0.14691	.|.	0.495402|.	0.22578|.	N|.	0.058260|.	T|T	0.03136|0.03136	0.0092|0.0092	N|N	0.02011|0.02011	-0.69|-0.69	0.28659|0.28659	N|N	0.906227|0.906227	B|.	0.29037|.	0.231|.	B|.	0.15484|.	0.013|.	T|T	0.43475|0.43475	-0.9389|-0.9389	9|5	.|.	.|.	.|.	-10.6041|-10.6041	5.6712|5.6712	0.17723|0.17723	0.2619:0.0:0.4937:0.2444|0.2619:0.0:0.4937:0.2444	.|.	1771|.	Q4ZHG4|.	FNDC1_HUMAN|.	T|H	1771;1708|1666	ENSP00000297267:A1771T;ENSP00000342460:A1708T|.	.|.	A|R	+|+	1|2	0|0	FNDC1|FNDC1	159607132|159607132	0.982000|0.982000	0.34865|0.34865	0.989000|0.989000	0.46669|0.46669	0.952000|0.952000	0.60782|0.60782	0.344000|0.344000	0.19962|0.19962	0.057000|0.057000	0.16193|0.16193	0.650000|0.650000	0.86243|0.86243	GCT|CGC	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042897.3		+	ENST00000297267.9	Missense_Mutation	SNP	6 : 159687142 - 159687142 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	281	27
GPER1	2852	broad.mit.edu	37	7	1131792	1131792	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1131792G>A	ENST00000297469.3	+	2	1119	c.428G>A	c.(427-429)aGc>aAc	p.S143N	C7orf50_ENST00000397098.3_Intron|GPER1_ENST00000397092.1_Missense_Mutation_p.S143N|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000488073.1_Intron|GPER1_ENST00000401670.1_Missense_Mutation_p.S143N|C7orf50_ENST00000357429.6_Intron|GPER1_ENST00000397088.3_Missense_Mutation_p.S143N	NM_001505.2	NP_001496.1			G protein-coupled estrogen receptor 1	143											NA						AACATGTACAGCAGCGTCTTC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	109	123			NA	NA	7		NA											NA				1131792		2203	4300	6503	SO:0001583	missense			U63917	CCDS5322.1	7p22	2013-08-14	2007-07-03	2013-08-14	ENSG00000164850	ENSG00000164850	2852	2852			4485	protein-coding gene	gene with protein product		601805	G protein-coupled receptor 30	CMKRL2, GPR30, GPER	NA	9479505, 17655271	Standard	NM_001039966	NM_001098201	NA	Approved	FEG-1, GPCR-Br, LERGU, LERGU2, DRY12, LyGPR, CEPR	uc003skb.2	Q99527	OTTHUMG00000023680	ENST00000297469.3:c.428G>A	7.37:g.1131792G>A	ENSP00000297469:p.Ser143Asn	NA		37	CCDS5322.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.476454	0.84640	.	.	ENSG00000164850	ENST00000401670;ENST00000397092;ENST00000297469;ENST00000397088;ENST00000508834	T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.87120	0.6098	M	0.80982	2.52	0.54753	D	0.999982	D	0.89917	1.0	D	0.91635	0.999	D	0.88794	0.3280	10	0.87932	D	0	-34.1675	17.8628	0.88786	0.0:0.0:1.0:0.0	.	143	Q99527	GPER_HUMAN	N	143	ENSP00000385151:S143N;ENSP00000380281:S143N;ENSP00000297469:S143N;ENSP00000380277:S143N	ENSP00000297469:S143N	S	+	2	0	GPER	1098318	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.204000	0.77872	2.466000	0.83321	0.643000	0.83706	AGC	GPER1-030	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060001.1		+	ENST00000297469.3	Missense_Mutation	SNP	7 : 1131792 - 1131792 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	662	142
ALS2CL	259173	broad.mit.edu	37	3	46717749	46717749	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46717749G>T	ENST00000318962.4	-	19	2255	c.2172C>A	c.(2170-2172)ctC>ctA	p.L724L	ALS2CL_ENST00000383742.3_Silent_p.L71L|ALS2CL_ENST00000415953.1_Silent_p.L724L	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	724					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AGGCAGCCCAGAGTTCCTGGG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	65	68			NA	NA	3		NA											NA				46717749		2203	4300	6503	SO:0001819	synonymous_variant			AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038	259173	259173			20605	protein-coding gene	gene with protein product		612402			NA	15388334, 8889548, 17239822	Standard	NM_147129	NM_147129	NA	Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.2172C>A	3.37:g.46717749G>T		NA	Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1	37	CCDS2743.1																																																																																			ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250567.3		-	ENST00000318962.4	Silent	SNP	3 : 46717749 - 46717749 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	440	78
DNAH10	196385	broad.mit.edu	37	12	124335466	124335466	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124335466G>A	ENST00000409039.3	+	34	5805	c.5780G>A	c.(5779-5781)cGc>cAc	p.R1927H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1927	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTGGACTCCCGCATGGGCATC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	0,4282		0,0,2141	37	41	40		5780	5.5	0	12		40	1,8537		0,1,4268	no	missense	DNAH10	NM_207437.3	29	0,1,6409	AA,AG,GG	NA	0.0117,0.0,0.0078	probably-damaging	1927/4472	124335466	1,12819	2141	4269	6410	SO:0001583	missense			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653	196385	196385		Axonemal dyneins	2941	protein-coding gene	gene with protein product		605884	dynein, axonemal, heavy polypeptide 10		NA		Standard		NM_207437	NA	Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5780G>A	12.37:g.124335466G>A	ENSP00000386770:p.Arg1927His	NA	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950710	0.73787	0.0	1.17E-4	ENSG00000197653	ENST00000409039	T	0.39787	1.06	5.48	5.48	0.80851	ATPase, AAA+ type, core (1);	0.285831	0.29389	U	0.012288	T	0.49508	0.1561	N	0.14661	0.345	0.53688	D	0.99997	D	0.76494	0.999	D	0.68765	0.96	T	0.55872	-0.8072	10	0.56958	D	0.05	.	19.3709	0.94484	0.0:0.0:1.0:0.0	.	1927	Q8IVF4	DYH10_HUMAN	H	1927	ENSP00000386770:R1927H	ENSP00000386770:R1927H	R	+	2	0	DNAH10	122901419	0.941000	0.31946	0.023000	0.16930	0.607000	0.37147	4.168000	0.58216	2.576000	0.86940	0.655000	0.94253	CGC	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335420.3		+	ENST00000409039.3	Missense_Mutation	SNP	12 : 124335466 - 124335466 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	410	82
TRIM58	25893	broad.mit.edu	37	1	248031265	248031265	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248031265A>C	ENST00000366481.3	+	5	819	c.771A>C	c.(769-771)agA>agC	p.R257S		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	257						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTCTTCCCAGAAGTAAGGCTG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	89	91			NA	NA	1		NA											NA				248031265		2203	4300	6503	SO:0001630	splice_region_variant			AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722	25893	25893		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	24150	protein-coding gene	gene with protein product			tripartite motif-containing 58		NA		Standard	NM_015431	NM_015431	NA	Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.771-1A>C	1.37:g.248031265A>C		NA	Q6B0H9	37	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.257475	0.39896	.	.	ENSG00000162722	ENST00000366481	T	0.04862	3.54	5.12	1.62	0.23740	.	0.246014	0.28683	N	0.014494	T	0.09555	0.0235	M	0.79805	2.47	0.33518	D	0.591953	P	0.40066	0.701	B	0.39840	0.311	T	0.09422	-1.0675	9	.	.	.	.	6.1537	0.20326	0.7052:0.0:0.2948:0.0	.	257	Q8NG06	TRI58_HUMAN	S	257	ENSP00000355437:R257S	.	R	+	3	2	TRIM58	246097888	1.000000	0.71417	0.885000	0.34714	0.016000	0.09150	1.983000	0.40648	0.482000	0.27582	-0.290000	0.09829	AGA	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096860.1	Missense_Mutation	+	ENST00000366481.3	Splice_Site	SNP	1 : 248031265 - 248031265 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	133	12
TACC1	6867	broad.mit.edu	37	8	38677288	38677288	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38677288A>G	ENST00000317827.4	+	3	905	c.526A>G	c.(526-528)Act>Gct	p.T176A	TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000443286.2_Missense_Mutation_p.T192A|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000520340.1_Missense_Mutation_p.T140A|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000518415.1_Missense_Mutation_p.T131A|TACC1_ENST00000379931.3_Missense_Mutation_p.T176A|TACC1_ENST00000330691.6_Intron	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	176	Interaction with TDRD7.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			TGGCTGTGTAACTGCAGTCTC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	79	78			NA	NA	8		NA											NA				38677288		2203	4300	6503	SO:0001583	missense			AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526	6867	6867			11522	protein-coding gene	gene with protein product		605301			NA		Standard	NM_006283	NM_006283	NA	Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.526A>G	8.37:g.38677288A>G	ENSP00000321703:p.Thr176Ala	NA	B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	37	CCDS6109.1	.	.	.	.	.	.	.	.	.	.	A	4.909	0.168925	0.09339	.	.	ENSG00000147526	ENST00000443286;ENST00000518415;ENST00000522904;ENST00000317827;ENST00000379931	T;T;T;T;T	0.09723	3.14;3.13;2.95;3.15;3.15	4.65	-1.92	0.07618	.	0.905143	0.09444	N	0.801377	T	0.07413	0.0187	L	0.44542	1.39	0.09310	N	1	B;B;B	0.28933	0.0;0.085;0.228	B;B;B	0.27796	0.001;0.039;0.083	T	0.44236	-0.9341	10	0.11182	T	0.66	0.1713	5.7161	0.17960	0.2284:0.3746:0.397:0.0	.	192;176;131	B4E302;O75410;O75410-7	.;TACC1_HUMAN;.	A	192;131;148;176;176	ENSP00000393647:T192A;ENSP00000428706:T131A;ENSP00000430355:T148A;ENSP00000321703:T176A;ENSP00000369263:T176A	ENSP00000321703:T176A	T	+	1	0	TACC1	38796445	0.000000	0.05858	0.000000	0.03702	0.441000	0.31987	-0.796000	0.04575	-0.203000	0.10251	0.460000	0.39030	ACT	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376768.1		+	ENST00000317827.4	Missense_Mutation	SNP	8 : 38677288 - 38677288 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	553	17
LRP5L	91355	broad.mit.edu	37	22	25747794	25747794	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25747794G>T	ENST00000402785.2	-	4	827	c.731C>A	c.(730-732)gCt>gAt	p.A244D	LRP5L_ENST00000402859.2_Missense_Mutation_p.A244D|LRP5L_ENST00000444995.3_Intron			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	244										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						AGATGGGGCAGCCAAACCGGG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	106	109			NA	NA	22		NA											NA				25747794		2200	4300	6500	SO:0001583	missense			AL137651	CCDS33626.1	22q11.23	2013-05-30			ENSG00000100068	ENSG00000100068	91355	91355			25323	protein-coding gene	gene with protein product					NA		Standard	NM_182492	NM_182492	NA	Approved	DKFZp434O0213	uc011ajz.2	A4QPB2	OTTHUMG00000150900	ENST00000402785.2:c.731C>A	22.37:g.25747794G>T	ENSP00000384562:p.Ala244Asp	NA	B0QYF3|B0QYF4|B2RPI5	37	CCDS33626.1	.	.	.	.	.	.	.	.	.	.	g	12.13	1.844202	0.32606	.	.	ENSG00000100068	ENST00000402859;ENST00000402785	D;D	0.91792	-2.91;-2.91	1.99	0.87	0.19102	.	.	.	.	.	D	0.90783	0.7106	L	0.31926	0.97	0.33184	D	0.54992	D	0.65815	0.995	P	0.60286	0.872	D	0.89190	0.3550	9	0.72032	D	0.01	.	7.0469	0.25050	0.16:0.0:0.84:0.0	.	244	A4QPB2	LRP5L_HUMAN	D	244	ENSP00000384291:A244D;ENSP00000384562:A244D	ENSP00000384562:A244D	A	-	2	0	LRP5L	24077794	1.000000	0.71417	0.998000	0.56505	0.169000	0.22640	2.415000	0.44635	0.362000	0.24319	0.194000	0.17425	GCT	LRP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320477.2		-	ENST00000402785.2	Missense_Mutation	SNP	22 : 25747794 - 25747794 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	544	44
MMP2	4313	broad.mit.edu	37	16	55523659	55523659	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55523659G>A	ENST00000570308.1	+	8	1560	c.875G>A	c.(874-876)cGc>cAc	p.R292H	MMP2_ENST00000437642.2_Missense_Mutation_p.R318H|MMP2_ENST00000543485.1_Missense_Mutation_p.R292H|MMP2_ENST00000219070.4_Missense_Mutation_p.R368H			P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	368	Collagen-binding.|Fibronectin type-II 2.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	AGCGCCGGCCGCAGTGACGGA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	97	101			NA	NA	16		NA											NA				55523659		2198	4300	6498	SO:0001583	missense				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	NA	4313	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase), matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	CLG4, CLG4A	NA		Standard		NM_004530	NA	Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000570308.1:c.875G>A	16.37:g.55523659G>A	ENSP00000461421:p.Arg292His	NA	B2R6U1|Q9UCJ8	37		.	.	.	.	.	.	.	.	.	.	G	28.0	4.879572	0.91740	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.53640	0.61;0.61;0.61	4.91	4.91	0.64330	Peptidase M10, metallopeptidase (1);Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);Peptidase, metallopeptidase (1);	0.000000	0.85682	D	0.000000	T	0.75474	0.3854	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.81826	-0.0754	10	0.87932	D	0	.	18.459	0.90731	0.0:0.0:1.0:0.0	.	318;368	E9PE45;P08253	.;MMP2_HUMAN	H	368;292;318	ENSP00000219070:R368H;ENSP00000444143:R292H;ENSP00000394237:R318H	ENSP00000219070:R368H	R	+	2	0	MMP2	54081160	1.000000	0.71417	0.989000	0.46669	0.687000	0.40016	9.813000	0.99286	2.423000	0.82170	0.655000	0.94253	CGC	MMP2-008	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000440029.1		+	ENST00000570308.1	Missense_Mutation	SNP	16 : 55523659 - 55523659 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	618	127
MUC16	94025	broad.mit.edu	37	19	9046155	9046155	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9046155G>T	ENST00000397910.4	-	5	35679	c.35476C>A	c.(35476-35478)Ctt>Att	p.L11826I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11828	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						CCAGTTACAAGTAGGGTGAAG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	69	69			NA	NA	19		NA											NA				9046155		2006	4172	6178	SO:0001583	missense			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.35476C>A	19.37:g.9046155G>T	ENSP00000381008:p.Leu11826Ile	NA	Q6ZQW5|Q96RK2	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	G	7.258	0.604682	0.14002	.	.	ENSG00000181143	ENST00000397910	T	0.03496	3.91	2.32	-1.49	0.08718	.	.	.	.	.	T	0.02848	0.0085	L	0.29908	0.895	.	.	.	P	0.46020	0.871	B	0.41036	0.346	T	0.39333	-0.9619	8	0.87932	D	0	.	3.3382	0.07108	0.2855:0.0:0.5162:0.1983	.	11826	B5ME49	.	I	11826	ENSP00000381008:L11826I	ENSP00000381008:L11826I	L	-	1	0	MUC16	8907155	0.000000	0.05858	0.000000	0.03702	0.178000	0.23041	-0.672000	0.05244	-0.245000	0.09625	0.305000	0.20034	CTT	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Missense_Mutation	SNP	19 : 9046155 - 9046155 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	258	56
SOX8	30812	broad.mit.edu	37	16	1034862	1034862	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1034862G>A	ENST00000293894.3	+	3	932	c.817G>A	c.(817-819)Gtc>Atc	p.V273I		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	273					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CAGCAGCGAGGTCATGGGCAC	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	37	37			NA	NA	16		NA											NA				1034862		2199	4297	6496	SO:0001583	missense			AF164104	CCDS10428.1	16p13.3	2008-05-23			ENSG00000005513	ENSG00000005513	30812	30812		SRY (sex determining region Y)-boxes	11203	protein-coding gene	gene with protein product		605923			NA	10662550, 10684944	Standard		NM_014587	NA	Approved		uc002ckn.3	P57073	OTTHUMG00000122101	ENST00000293894.3:c.817G>A	16.37:g.1034862G>A	ENSP00000293894:p.Val273Ile	NA	Q9NZW2	37	CCDS10428.1	.	.	.	.	.	.	.	.	.	.	G	30	5.054954	0.93793	.	.	ENSG00000005513	ENST00000293894	T	0.80123	-1.34	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	D	0.90263	0.6955	M	0.89163	3.01	0.58432	D	0.999999	D	0.61080	0.989	D	0.64410	0.925	D	0.91694	0.5368	10	0.52906	T	0.07	.	16.342	0.83084	0.0:0.0:1.0:0.0	.	273	P57073	SOX8_HUMAN	I	273	ENSP00000293894:V273I	ENSP00000293894:V273I	V	+	1	0	SOX8	974863	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.471000	0.80985	2.309000	0.77851	0.650000	0.86243	GTC	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000242867.1		+	ENST00000293894.3	Missense_Mutation	SNP	16 : 1034862 - 1034862 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	57
DDX27	55661	broad.mit.edu	37	20	47836014	47836014	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47836014C>A	ENST00000371764.4	+	1	131	c.122C>A	c.(121-123)aCc>aAc	p.T41N	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	41						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTAATCGGAACCATAGGCGAG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	62	64			NA	NA	20		NA											NA				47836014		2203	4300	6503	SO:0001583	missense			AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228	55661	55661		DEAD-boxes	15837	protein-coding gene	gene with protein product			DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27		NA		Standard		NM_017895	NA	Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.122C>A	20.37:g.47836014C>A	ENSP00000360828:p.Thr41Asn	NA	A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	37	CCDS13416.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076268	0.76415	.	.	ENSG00000124228	ENST00000535160;ENST00000371764	D	0.86297	-2.1	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.91250	0.7242	L	0.54323	1.7	0.58432	D	0.999994	D	0.76494	0.999	D	0.63488	0.915	D	0.91424	0.5161	10	0.87932	D	0	-20.4532	16.1635	0.81734	0.0:1.0:0.0:0.0	.	41	Q96GQ7	DDX27_HUMAN	N	41	ENSP00000360828:T41N	ENSP00000360828:T41N	T	+	2	0	DDX27	47269421	1.000000	0.71417	0.975000	0.42487	0.197000	0.23852	5.007000	0.63984	2.894000	0.99253	0.655000	0.94253	ACC	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080485.1		+	ENST00000371764.4	Missense_Mutation	SNP	20 : 47836014 - 47836014 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	306	36
C3orf17	25871	broad.mit.edu	37	3	112736342	112736342	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112736342T>G	ENST00000314400.5	-	2	405	c.214A>C	c.(214-216)Aat>Cat	p.N72H	C3orf17_ENST00000383675.2_Missense_Mutation_p.N72H|C3orf17_ENST00000393857.2_Intron	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	72						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						CTGTTGTGATTGCTGTAAAGG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	129	136			NA	NA	3		NA											NA				112736342		2203	4300	6503	SO:0001583	missense			AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608	25871	25871			24496	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_015412	NR_027794	NA	Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.214A>C	3.37:g.112736342T>G	ENSP00000320251:p.Asn72His	NA	D3DN69|Q68DM6|Q9H7U0|Q9UFM4	37	CCDS33824.1	.	.	.	.	.	.	.	.	.	.	T	11.26	1.585739	0.28268	.	.	ENSG00000163608	ENST00000314400;ENST00000383675	T;T	0.47177	0.85;0.85	5.61	3.1	0.35709	.	0.359775	0.32287	N	0.006308	T	0.36193	0.0958	L	0.54323	1.7	0.80722	D	1	P;B	0.35174	0.488;0.197	B;B	0.35240	0.198;0.058	T	0.07347	-1.0777	10	0.15066	T	0.55	-15.9227	6.1807	0.20470	0.1489:0.0:0.353:0.4982	.	72;72	Q6NW34-2;Q6NW34	.;CC017_HUMAN	H	72	ENSP00000320251:N72H;ENSP00000373173:N72H	ENSP00000320251:N72H	N	-	1	0	C3orf17	114219032	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.705000	0.37867	0.946000	0.37632	0.533000	0.62120	AAT	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354405.3		-	ENST00000314400.5	Missense_Mutation	SNP	3 : 112736342 - 112736342 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	429	89
ATM	472	broad.mit.edu	37	11	108198454	108198454	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108198454C>A	ENST00000452508.2	+	49	7247	c.7058C>A	c.(7057-7059)cCt>cAt	p.P2353H	ATM_ENST00000278616.4_Missense_Mutation_p.P2353H|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2353	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTAGAAAATCCTGCGGTCATC	0.388		NA	D, Mis, N, F, S		T-PLL	leukemia, lymphoma, medulloblastoma, glioma		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		L, O	0													88	81	83			NA	NA	11		NA											NA				108198454		2201	4298	6499	SO:0001583	missense	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311	472	472			795	protein-coding gene	gene with protein product	TEL1, telomere maintenance 1, homolog (S. cerevisiae)	607585	ataxia telangiectasia mutated (includes complementation groups A, C and D), ataxia telangiectasia mutated	ATA, ATDC, ATC, ATD	NA		Standard	NM_000051	XM_005271561	NA	Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7058C>A	11.37:g.108198454C>A	ENSP00000388058:p.Pro2353His	NA	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915849	0.92178	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.70986	-0.53;-0.53	5.3	5.3	0.74995	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85071	0.5613	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86843	0.2018	10	0.87932	D	0	.	18.9553	0.92657	0.0:1.0:0.0:0.0	.	2353	Q13315	ATM_HUMAN	H	2353	ENSP00000278616:P2353H;ENSP00000388058:P2353H	ENSP00000278616:P2353H	P	+	2	0	ATM	107703664	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.407000	0.80029	2.474000	0.83562	0.563000	0.77884	CCT	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389938.1		+	ENST00000452508.2	Missense_Mutation	SNP	11 : 108198454 - 108198454 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	238	41
ZBTB8A	653121	broad.mit.edu	37	1	33058584	33058584	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33058584C>T	ENST00000373510.4	+	3	281	c.52C>T	c.(52-54)Cgc>Tgc	p.R18C	ZBTB8A_ENST00000316459.4_Missense_Mutation_p.R18C|RP1-27O5.3_ENST00000480336.1_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	18					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						GAACGAGCAGCGCAGGCAAGA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	60	62			NA	NA	1		NA											NA				33058584		2203	4300	6503	SO:0001583	missense			AF548353	CCDS30664.1	1p34.3	2013-01-08	2009-03-25	2009-03-25	ENSG00000160062	ENSG00000160062	653121	653121		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	24172	protein-coding gene	gene with protein product			zinc finger and BTB domain containing 8	ZBTB8	NA	12477932	Standard	NM_144621	NM_001040441	NA	Approved	BOZF1, FLJ90065, ZNF916A	uc001bvn.3	Q96BR9	OTTHUMG00000007855	ENST00000373510.4:c.52C>T	1.37:g.33058584C>T	ENSP00000362609:p.Arg18Cys	NA	Q8IUL5|Q8IWR9|Q8N2Y5|Q96BX0	37	CCDS30664.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107142	0.77096	.	.	ENSG00000160062	ENST00000373510;ENST00000316459	T;T	0.73152	-0.72;-0.72	5.32	5.32	0.75619	BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	U	0.000001	D	0.88217	0.6377	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90743	0.4651	10	0.87932	D	0	-12.0923	18.3637	0.90384	0.0:1.0:0.0:0.0	.	18;18	Q96BR9;D3DPQ1	ZBT8A_HUMAN;.	C	18	ENSP00000362609:R18C;ENSP00000317561:R18C	ENSP00000317561:R18C	R	+	1	0	ZBTB8A	32831171	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.560000	0.67332	2.651000	0.90000	0.585000	0.79938	CGC	ZBTB8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021665.2		+	ENST00000373510.4	Missense_Mutation	SNP	1 : 33058584 - 33058584 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	201	28
FLT3	2322	broad.mit.edu	37	13	28602336	28602336	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28602336G>T	ENST00000241453.7	-	16	2113	c.2032C>A	c.(2032-2034)Ctg>Atg	p.L678M	FLT3_ENST00000537084.1_Missense_Mutation_p.L678M|FLT3_ENST00000380982.4_Missense_Mutation_p.L678M	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	678	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CACGCCCCCAGCAGGTTCACA	0.473		NA	Mis, O		AML, ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0													97	80	85			NA	NA	13		NA											NA				28602336		2203	4300	6503	SO:0001583	missense			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2322	2322	2.7.10.1	CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	3765	protein-coding gene	gene with protein product		136351			NA	8394751	Standard		NM_004119	NA	Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2032C>A	13.37:g.28602336G>T	ENSP00000241453:p.Leu678Met	NA	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	37	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141517	0.57044	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	D;D;D	0.90563	-2.69;-2.69;-2.69	5.71	3.66	0.41972	Serine-threonine/tyrosine-protein kinase (1);Tyrosine-protein kinase, receptor class III, conserved site (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000074	D	0.92485	0.7614	L	0.45285	1.41	0.50171	D	0.999856	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.92867	0.6311	10	0.87932	D	0	.	12.2545	0.54617	0.2053:0.0:0.7947:0.0	.	678;678	P36888-2;P36888	.;FLT3_HUMAN	M	678	ENSP00000241453:L678M;ENSP00000370369:L678M;ENSP00000438139:L678M	ENSP00000241453:L678M	L	-	1	2	FLT3	27500336	1.000000	0.71417	0.998000	0.56505	0.509000	0.34042	2.265000	0.43311	1.410000	0.46936	0.555000	0.69702	CTG	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044319.2		-	ENST00000241453.7	Missense_Mutation	SNP	13 : 28602336 - 28602336 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	239	52
CARS2	79587	broad.mit.edu	37	13	111340107	111340107	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111340107C>T	ENST00000257347.4	-	5	595	c.532G>A	c.(532-534)Gga>Aga	p.G178R	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	178					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	GCAATGATTCCTTCAATGAAA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													185	197	193			NA	NA	13		NA											NA				111340107		2203	4300	6503	SO:0001583	missense			BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	79587	79587	6.1.1.16	Aminoacyl tRNA synthetases / Class I	25695	protein-coding gene	gene with protein product	cysteine tRNA ligase 2, mitochondrial (putative)	612800			NA	15779907	Standard	NM_024537	NM_024537	NA	Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347	ENST00000257347.4:c.532G>A	13.37:g.111340107C>T	ENSP00000257347:p.Gly178Arg	NA	Q8NI84|Q96IV4	37	CCDS9514.1	.	.	.	.	.	.	.	.	.	.	C	4.847	0.157371	0.09236	.	.	ENSG00000134905	ENST00000257347;ENST00000542709	T	0.26957	1.7	4.71	1.82	0.25136	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.607895	0.16732	N	0.201803	T	0.07413	0.0187	N	0.01800	-0.715	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.36212	-0.9757	10	0.13108	T	0.6	-2.8229	4.1568	0.10265	0.0:0.3798:0.3475:0.2726	.	178	Q9HA77	SYCM_HUMAN	R	178;169	ENSP00000257347:G178R	ENSP00000257347:G178R	G	-	1	0	CARS2	110138108	0.000000	0.05858	0.004000	0.12327	0.024000	0.10985	-0.014000	0.12656	0.445000	0.26639	0.557000	0.71058	GGA	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045772.3		-	ENST00000257347.4	Missense_Mutation	SNP	13 : 111340107 - 111340107 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1593	311
TRAK2	66008	broad.mit.edu	37	2	202254168	202254168	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202254168A>G	ENST00000332624.3	-	12	1680	c.1252T>C	c.(1252-1254)Tct>Cct	p.S418P		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	418	Interaction with HGS (By similarity).			Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						AATGAGATAGAGCGGCCCCGT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	106	107			NA	NA	2		NA											NA				202254168		2203	4300	6503	SO:0001583	missense			AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993	66008	66008			13206	protein-coding gene	gene with protein product	gamma-aminobutyric acid(A) receptor-interacting factor, milton homolog 2 (Drosophila), O-linked N-acetylglucosamine transferase interacting protein 98	607334	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3	ALS2CR3	NA	11161814, 16380713, 20230862	Standard	NM_015049	NM_015049	NA	Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.1252T>C	2.37:g.202254168A>G	ENSP00000328875:p.Ser418Pro	NA	Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	37	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	A	13.40	2.226869	0.39399	.	.	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.48201	0.82	5.9	2.16	0.27623	Trafficking kinesin-binding protein domain (1);	0.319626	0.30193	N	0.010189	T	0.44623	0.1302	M	0.69823	2.125	0.80722	D	1	B	0.14012	0.009	B	0.22386	0.039	T	0.30621	-0.9972	10	0.48119	T	0.1	.	8.0029	0.30308	0.6399:0.1238:0.0:0.2363	.	418	O60296	TRAK2_HUMAN	P	418;324	ENSP00000328875:S418P	ENSP00000328875:S418P	S	-	1	0	TRAK2	201962413	0.996000	0.38824	0.477000	0.27303	0.521000	0.34408	2.190000	0.42630	0.121000	0.18284	0.528000	0.53228	TCT	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256284.3		-	ENST00000332624.3	Missense_Mutation	SNP	2 : 202254168 - 202254168 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	413	70
FLT3	2322	broad.mit.edu	37	13	28609635	28609635	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28609635G>A	ENST00000241453.7	-	12	1675	c.1594C>T	c.(1594-1596)Cca>Tca	p.P532S	FLT3_ENST00000537084.1_Missense_Mutation_p.P532S|FLT3_ENST00000380982.4_Missense_Mutation_p.P532S	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	532					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	GTTGTACCTGGAGAGTTTAAA	0.438		NA	Mis, O		AML, ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0													147	135	139			NA	NA	13		NA											NA				28609635		2203	4300	6503	SO:0001583	missense			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2322	2322	2.7.10.1	CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	3765	protein-coding gene	gene with protein product		136351			NA	8394751	Standard		NM_004119	NA	Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1594C>T	13.37:g.28609635G>A	ENSP00000241453:p.Pro532Ser	NA	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	37	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	G	6.860	0.528006	0.13127	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.77877	-1.06;-1.13;-0.83	5.18	0.272	0.15645	.	0.509728	0.19645	N	0.109344	T	0.50650	0.1628	N	0.24115	0.695	0.18873	N	0.999982	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.30851	-0.9964	10	0.05620	T	0.96	.	0.5181	0.00607	0.3086:0.1247:0.3114:0.2554	.	532;532	P36888-2;P36888	.;FLT3_HUMAN	S	532	ENSP00000241453:P532S;ENSP00000370369:P532S;ENSP00000438139:P532S	ENSP00000241453:P532S	P	-	1	0	FLT3	27507635	0.000000	0.05858	0.041000	0.18516	0.370000	0.29829	-0.630000	0.05502	-0.207000	0.10187	0.650000	0.86243	CCA	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044319.2		-	ENST00000241453.7	Missense_Mutation	SNP	13 : 28609635 - 28609635 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	400	80
ALG10B	144245	broad.mit.edu	37	12	38710827	38710827	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:38710827G>A	ENST00000308742.4	+	1	448	c.132G>A	c.(130-132)caG>caA	p.Q44Q	ALG10B_ENST00000551464.1_Silent_p.Q44Q	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	44					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				ACCTGCCTCAGGCGCAGCGCT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	155	152			NA	NA	12		NA											NA				38710827		2203	4300	6503	SO:0001819	synonymous_variant			AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	144245	144245	2.4.1.256		31088	protein-coding gene	gene with protein product	potassium channel regulator 1, dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase		asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)		NA		Standard	NM_001013620	NM_001013620	NA	Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.132G>A	12.37:g.38710827G>A		NA	B2RPF4	37	CCDS31772.1																																																																																			ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403349.1		+	ENST00000308742.4	Silent	SNP	12 : 38710827 - 38710827 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1444	251
ZNF90	7643	broad.mit.edu	37	19	20215098	20215098	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:20215098G>A	ENST00000418063.2	+	2	166	c.54G>A	c.(52-54)tgG>tgA	p.W18*	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	18	KRAB.					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						TGGAGGAGTGGCATTGCCTGG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001587	stop_gained			M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988	7643	7643		Zinc fingers, C2H2-type, -	13165	protein-coding gene	gene with protein product		603973	zinc finger protein 90 (HTF9)		NA	8467795	Standard	NM_007138	NM_007138	NA	Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.54G>A	19.37:g.20215098G>A	ENSP00000410466:p.Trp18*	NA	B9EH87	37	CCDS46028.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.188450	0.38609	.	.	ENSG00000213988	ENST00000418063	.	.	.	1.11	1.11	0.20524	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6708	0.28457	0.0:0.0:1.0:0.0	.	.	.	.	X	18	.	ENSP00000410466:W18X	W	+	3	0	ZNF90	20076098	0.905000	0.30787	0.484000	0.27391	0.406000	0.30931	1.899000	0.39818	0.534000	0.28695	0.184000	0.17185	TGG	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350101.1		+	ENST00000418063.2	Nonsense_Mutation	SNP	19 : 20215098 - 20215098 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	727	126
PARP1	142	broad.mit.edu	37	1	226573298	226573298	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226573298G>A	ENST00000366794.5	-	7	1061	c.918C>T	c.(916-918)agC>agT	p.S306S		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	306					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	p.S306S(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		AATAGGCATCGCTCTTGAAGA	0.567		NA						Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											122	102	109			NA	NA	1		NA											NA				226573298		2203	4300	6503	SO:0001819	synonymous_variant			BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	142	142	2.4.2.30	Poly (ADP-ribose) polymerases	270	protein-coding gene	gene with protein product		173870	ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase), poly (ADP-ribose) polymerase family, member 1	PPOL, ADPRT	NA	10964595	Standard	NM_001618	NM_001618	NA	Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.918C>T	1.37:g.226573298G>A		NA	B1ANJ4|Q8IUZ9	37	CCDS1554.1																																																																																			PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091519.1		-	ENST00000366794.5	Silent	SNP	1 : 226573298 - 226573298 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	492	114
SPEG	10290	broad.mit.edu	37	2	220348005	220348005	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220348005G>A	ENST00000312358.7	+	30	5952	c.5820G>A	c.(5818-5820)caG>caA	p.Q1940Q	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1940					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCCCACTGCAGCCCGAGTTCT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													10	13	12			NA	NA	2		NA											NA				220348005		1867	4079	5946	SO:0001819	synonymous_variant			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195	10290	10290		Immunoglobulin superfamily / I-set domain containing	16901	protein-coding gene	gene with protein product		615950	aortic preferentially expressed gene 1	APEG1	NA	8663449, 10973969	Standard	NM_005876	NM_005876	NA	Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.5820G>A	2.37:g.220348005G>A		NA	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	37	CCDS42824.1																																																																																			SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130252.2		+	ENST00000312358.7	Silent	SNP	2 : 220348005 - 220348005 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	114	32
BCAM	4059	broad.mit.edu	37	19	45322676	45322676	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45322676G>A	ENST00000589651.1	+	12	1601	c.1547G>A	c.(1546-1548)aGc>aAc	p.S516N	BCAM_ENST00000270233.6_Missense_Mutation_p.S516N			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	NA	Ig-like C2-type 3.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				AGCGCCCTGAGCCGCGATGGC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	85	83			NA	NA	19		NA											NA				45322676		2203	4300	6503	SO:0001583	missense			X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244	4059	4059		CD molecules, Blood group antigens, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	6722	protein-coding gene	gene with protein product		612773	Lutheran blood group (Auberger b antigen included), basal cell adhesion molecule (Lu and Au blood groups)	LU	NA		Standard	NM_005581	NM_005581	NA	Approved	CD239	uc002ozu.4	P50895		ENST00000589651.1:c.1547G>A	19.37:g.45322676G>A	ENSP00000476710:p.Ser516Asn	NA	A8MYF9|A9YWT5|A9YWT6|Q86VC7	37	CCDS42575.1	.	.	.	.	.	.	.	.	.	.	.	13.66	2.302032	0.40694	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.14266	2.52;2.52	4.27	3.1	0.35709	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.12603	0.0306	L	0.37630	1.12	0.23727	N	0.997001	P	0.37914	0.611	B	0.42882	0.401	T	0.14282	-1.0478	9	0.13853	T	0.58	-21.7405	9.1554	0.36990	0.0:0.2943:0.7057:0.0	.	516	P50895	BCAM_HUMAN	N	516	ENSP00000270233:S516N;ENSP00000375817:S516N	ENSP00000270233:S516N	S	+	2	0	BCAM	50014516	0.979000	0.34478	0.998000	0.56505	0.778000	0.44026	1.369000	0.34227	2.117000	0.64856	0.538000	0.68166	AGC	BCAM-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453219.2		+	ENST00000589651.1	Missense_Mutation	SNP	19 : 45322676 - 45322676 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	761	152
PNMA2	10687	broad.mit.edu	37	8	26365196	26365196	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:26365196T>G	ENST00000522362.2	-	3	1970	c.1076A>C	c.(1075-1077)aAt>aCt	p.N359T		NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	359					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		TCCCTCATGATTCCAGCGGCC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	103	102			NA	NA	8		NA											NA				26365196		2203	4300	6503	SO:0001583	missense				CCDS34868.1	8p21.1	2012-02-09	2012-02-09		ENSG00000240694	ENSG00000240694	10687	10687		Paraneoplastic Ma antigens	9159	protein-coding gene	gene with protein product		603970	paraneoplastic antigen MA2		NA	10362822	Standard	NM_007257	NM_007257	NA	Approved	MA2, RGAG2	uc003xez.2	Q9UL42	OTTHUMG00000163816	ENST00000522362.2:c.1076A>C	8.37:g.26365196T>G	ENSP00000429344:p.Asn359Thr	NA	B3KNY9|O94959|O95145|Q49A18|Q9UL43	37	CCDS34868.1	.	.	.	.	.	.	.	.	.	.	T	10.03	1.238753	0.22711	.	.	ENSG00000240694	ENST00000522362	T	0.08634	3.07	4.32	0.602	0.17535	.	.	.	.	.	T	0.05135	0.0137	N	0.22421	0.69	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.39396	-0.9616	9	0.62326	D	0.03	-3.4143	2.7839	0.05368	0.218:0.2161:0.0:0.566	.	359	Q9UL42	PNMA2_HUMAN	T	359	ENSP00000429344:N359T	ENSP00000429344:N359T	N	-	2	0	PNMA2	26421113	0.077000	0.21312	0.091000	0.20842	0.009000	0.06853	0.103000	0.15292	0.101000	0.17610	0.533000	0.62120	AAT	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375709.2		-	ENST00000522362.2	Missense_Mutation	SNP	8 : 26365196 - 26365196 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	932	158
EIF3C	8663	broad.mit.edu	37	16	28734551	28734551	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28734551G>A	ENST00000331666.6	+	9	1029	c.843G>A	c.(841-843)aaG>aaA	p.K281K	EIF3C_ENST00000564243.1_Silent_p.K271K|EIF3C_ENST00000566501.1_Silent_p.K281K|EIF3C_ENST00000566866.1_Silent_p.K281K|EIF3C_ENST00000395587.1_Silent_p.K281K			Q99613	EIF3C_HUMAN	eukaryotic translation initiation factor 3, subunit C	281						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(5)|skin(1)	6						CTAAGAAGAAGCACGACAGGA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													255	291	278			NA	NA	16		NA											NA				28734551		2197	4298	6495	SO:0001819	synonymous_variant			U46025	CCDS10638.1, CCDS66993.1	16p11.2	2008-02-05	2007-07-27	2007-07-27		ENSG00000184110	8663	8663			3279	protein-coding gene	gene with protein product		603916	eukaryotic translation initiation factor 3, subunit 8, 110kDa	EIF3S8	NA	8995409	Standard	NM_003752	NM_001199142	NA	Approved	eIF3-p110, eIF3c	uc002dph.4	Q99613		ENST00000331666.6:c.843G>A	16.37:g.28734551G>A		NA	A8K7Z0|B2RXG3|O00215|Q9BW98	37	CCDS10638.1	.	.	.	.	.	.	.	.	.	.	g	1.696	-0.502756	0.04261	.	.	ENSG00000184110	ENST00000395583	.	.	.	4.23	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0464	0.64708	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EIF3C	28642052	1.000000	0.71417	1.000000	0.80357	0.179000	0.23085	3.167000	0.50793	2.356000	0.79943	0.545000	0.68477	.	EIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216908.3		+	ENST00000331666.6	Silent	SNP	16 : 28734551 - 28734551 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	3324	291
MUC5B	727897	broad.mit.edu	37	11	1264986	1264986	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1264986C>A	ENST00000529681.1	+	31	6934	c.6876C>A	c.(6874-6876)cgC>cgA	p.R2292R	MUC5B_ENST00000447027.1_Silent_p.R2295R|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2292	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCAAGACCCGCACCTCGACCC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	87	77			NA	NA	11		NA											NA				1264986		2090	4200	6290	SO:0001819	synonymous_variant			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983	727897	727897		Mucins	7516	protein-coding gene	gene with protein product		600770	mucin 5, subtype B, tracheobronchial	MUC5	NA	9804771	Standard	XM_001126093	NM_002458	NA	Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6876C>A	11.37:g.1264986C>A		NA	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	37	CCDS44515.2																																																																																			MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390041.2		+	ENST00000529681.1	Silent	SNP	11 : 1264986 - 1264986 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1357	107
TNKS	8658	broad.mit.edu	37	8	9623249	9623249	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:9623249A>G	ENST00000518281.1	+	24	3215	c.2784A>G	c.(2782-2784)cgA>cgG	p.R928R	TNKS_ENST00000310430.6_Silent_p.R1165R			O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1165					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TCTGCCACCGACAGAAGGAAG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	106	111			NA	NA	8		NA											NA				9623249		2203	4300	6503	SO:0001819	synonymous_variant			AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273	8658	8658		Poly (ADP-ribose) polymerases, Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	11941	protein-coding gene	gene with protein product		603303			NA	9822378, 10198177	Standard	NM_003747	XM_006716263	NA	Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000518281.1:c.2784A>G	8.37:g.9623249A>G		NA	O95272	37																																																																																				TNKS-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000375036.1		+	ENST00000518281.1	Silent	SNP	8 : 9623249 - 9623249 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	51
ADCY8	114	broad.mit.edu	37	8	131795943	131795943	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:131795943G>A	ENST00000286355.5	-	17	5354	c.3262C>T	c.(3262-3264)Cgg>Tgg	p.R1088W	ADCY8_ENST00000377928.3_Missense_Mutation_p.R957W	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1088					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCACCAATCCGGAGTTCAAAA	0.512		NA								HNSCC(32;0.087)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	112	115			NA	NA	8		NA											NA				131795943		2203	4300	6503	SO:0001583	missense			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	114	114	4.6.1.1	Adenylate cyclases	239	protein-coding gene	gene with protein product		103070		ADCY3	NA	8076676	Standard		NM_001115	NA	Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.3262C>T	8.37:g.131795943G>A	ENSP00000286355:p.Arg1088Trp	NA		37	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.595263	0.86953	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	D;D	0.88277	-2.36;-2.36	5.4	5.4	0.78164	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.97021	0.9027	H	0.98466	4.24	0.40008	D	0.975253	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98911	1.0780	10	0.87932	D	0	.	18.539	0.91020	0.0:0.0:1.0:0.0	.	957;1088	E7EVL1;P40145	.;ADCY8_HUMAN	W	1088;957	ENSP00000286355:R1088W;ENSP00000367161:R957W	ENSP00000286355:R1088W	R	-	1	2	ADCY8	131865125	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.911000	0.56378	2.681000	0.91329	0.655000	0.94253	CGG	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380080.1		-	ENST00000286355.5	Missense_Mutation	SNP	8 : 131795943 - 131795943 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	267	46
IQSEC3	440073	broad.mit.edu	37	12	250375	250375	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:250375C>T	ENST00000538872.1	+	5	2195	c.2077C>T	c.(2077-2079)Cga>Tga	p.R693*	RP11-598F7.4_ENST00000508953.2_RNA|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Nonsense_Mutation_p.R693*|IQSEC3_ENST00000382841.2_Nonsense_Mutation_p.R390*			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	693	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCTCCTCCAGCGAAAGGGCCT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	93	94			NA	NA	12		NA											NA				250375		2203	4300	6503	SO:0001587	stop_gained			AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645	440073	440073			29193	protein-coding gene	gene with protein product		612118			NA	10470851	Standard	XM_495902	NM_001170738	NA	Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2077C>T	12.37:g.250375C>T	ENSP00000437554:p.Arg693*	NA	A6NIF2|A6NKV9|Q8TB43	37	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	C	40	8.302209	0.98750	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	.	.	.	5.83	3.83	0.44106	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0142	0.64515	0.3356:0.6644:0.0:0.0	.	.	.	.	X	693;693;390	.	ENSP00000315662:R693X	R	+	1	2	IQSEC3	120636	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	1.531000	0.36018	2.763000	0.94921	0.561000	0.74099	CGA	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397382.3		+	ENST00000538872.1	Nonsense_Mutation	SNP	12 : 250375 - 250375 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	555	68
SCN10A	6336	broad.mit.edu	37	3	38763851	38763851	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38763851C>T	ENST00000449082.2	-	19	3404	c.3405G>A	c.(3403-3405)tgG>tgA	p.W1135*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1135					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGCCCACATCCCATGGACTCT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	142	151			NA	NA	3		NA											NA				38763851		2203	4300	6503	SO:0001587	stop_gained			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313	6336	6336		Sodium channels, Voltage-gated ion channels / Sodium channels	10582	protein-coding gene	gene with protein product		604427	sodium channel, voltage-gated, type X, alpha polypeptide		NA	9839820, 10198179, 16382098	Standard	NM_006514	NM_006514	NA	Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3405G>A	3.37:g.38763851C>T	ENSP00000390600:p.Trp1135*	NA	A6NDQ1	37	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	38	6.873866	0.97901	.	.	ENSG00000185313	ENST00000449082	.	.	.	4.27	3.29	0.37713	.	0.491076	0.21418	N	0.074877	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	5.4099	0.16342	0.0:0.635:0.2138:0.1512	.	.	.	.	X	1135	.	ENSP00000390600:W1135X	W	-	3	0	SCN10A	38738855	0.124000	0.22315	0.278000	0.24718	0.150000	0.21749	0.365000	0.20348	2.221000	0.72209	0.561000	0.74099	TGG	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109745.3		-	ENST00000449082.2	Nonsense_Mutation	SNP	3 : 38763851 - 38763851 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	658	113
TNNT2	7139	broad.mit.edu	37	1	201337290	201337290	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201337290C>A	ENST00000509001.1	-	5	419	c.133G>T	c.(133-135)Gaa>Taa	p.E45*	TNNT2_ENST00000367317.4_Splice_Site_p.E45*|TNNT2_ENST00000367320.2_Splice_Site_p.D55Y|TNNT2_ENST00000360372.4_Splice_Site_p.E40*|TNNT2_ENST00000367318.5_Splice_Site_p.E45*|TNNT2_ENST00000458432.2_Splice_Site_p.E57*|TNNT2_ENST00000421663.2_Splice_Site_p.E47*|TNNT2_ENST00000367322.1_Splice_Site_p.E45*|TNNT2_ENST00000367315.2_Splice_Site_p.E45*|TNNT2_ENST00000236918.7_Splice_Site_p.E50*	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	55					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						AGAGACTTACCTTCTGCCCTG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	78	87			NA	NA	1		NA											NA				201337290		2203	4300	6503	SO:0001630	splice_region_variant			X74819	CCDS30968.1, CCDS30969.1, CCDS60390.1, CCDS73002.1, CCDS73003.1	1q32	2014-09-17	2005-09-12		ENSG00000118194	ENSG00000118194	7139	7139			11949	protein-coding gene	gene with protein product		191045	troponin T2, cardiac, cardiomyopathy, hypertrophic 2, cardiomyopathy, dilated 1D (autosomal dominant)	CMH2, CMD1D	NA	8088824, 8205619, 9482583	Standard	NM_000364	NM_001001430	NA	Approved	CMPD2	uc001gwf.4	P45379	OTTHUMG00000035733	ENST00000509001.1:c.133+1G>T	1.37:g.201337290C>A		NA	A2TDB9|A8K3K6|O60214|Q99596|Q99597|Q9UM96	37	CCDS30969.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.94|19.94	3.919408|3.919408	0.73098|0.73098	.|.	.|.	ENSG00000118194|ENSG00000118194	ENST00000357848;ENST00000367320;ENST00000412633|ENST00000367322;ENST00000367318;ENST00000458432;ENST00000421663;ENST00000236918;ENST00000367317;ENST00000367315;ENST00000360372;ENST00000509001;ENST00000438742;ENST00000455702;ENST00000422165	D;D|.	0.99727|.	-6.55;-6.55|.	4.45|4.45	4.45|4.45	0.53987|0.53987	.|.	.|0.305164	.|0.25219	.|N	.|0.032250	T|.	0.71169|.	0.3308|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	P|.	0.35656|.	0.514|.	B|.	0.41332|.	0.354|.	T|.	0.74780|.	-0.3549|.	6|.	.|.	.|.	.|.	-4.8104|-4.8104	16.1679|16.1679	0.81785|0.81785	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	55|.	P45379-3|.	.|.	Y|X	42;55;45|45;45;57;47;50;45;45;40;45;40;55;50	ENSP00000356289:D55Y;ENSP00000408731:D45Y|.	.|.	D|E	-|-	1|1	0|0	TNNT2|TNNT2	199603913|199603913	1.000000|1.000000	0.71417|0.71417	0.852000|0.852000	0.33557|0.33557	0.172000|0.172000	0.22775|0.22775	3.582000|3.582000	0.53921|0.53921	2.436000|2.436000	0.82500|0.82500	0.561000|0.561000	0.74099|0.74099	GAT|GAA	TNNT2-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360358.1	Nonsense_Mutation	-	ENST00000509001.1	Splice_Site	SNP	1 : 201337290 - 201337290 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	542	90
AGMO	392636	broad.mit.edu	37	7	15599824	15599824	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:15599824C>A	ENST00000342526.3	-	2	368	c.199G>T	c.(199-201)Ggt>Tgt	p.G67C		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	67					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TCCAGGCGACCTGGTGGCTTT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	108	111			NA	NA	7		NA											NA				15599824		2203	4300	6503	SO:0001583	missense				CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	392636	392636	1.14.16.5	Fatty acid hydroxylase domain containing	33784	protein-coding gene	gene with protein product		613738	transmembrane protein 195	TMEM195	NA	20643956	Standard	NM_001004320	NM_001004320	NA	Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.199G>T	7.37:g.15599824C>A	ENSP00000341662:p.Gly67Cys	NA	A4D114|A6NCH5	37	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073690	0.55646	.	.	ENSG00000187546	ENST00000342526	T	0.32023	1.47	5.93	4.13	0.48395	.	0.243211	0.42420	D	0.000712	T	0.39172	0.1068	L	0.57536	1.79	0.09310	N	0.999998	P	0.49358	0.923	P	0.53146	0.719	T	0.19418	-1.0306	10	0.52906	T	0.07	-13.2306	7.9099	0.29785	0.0:0.7277:0.1329:0.1394	.	67	Q6ZNB7	ALKMO_HUMAN	C	67	ENSP00000341662:G67C	ENSP00000341662:G67C	G	-	1	0	AGMO	15566349	0.003000	0.15002	0.594000	0.28785	0.021000	0.10359	1.320000	0.33666	1.508000	0.48769	0.655000	0.94253	GGT	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326049.2		-	ENST00000342526.3	Missense_Mutation	SNP	7 : 15599824 - 15599824 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	387	80
FHOD3	80206	broad.mit.edu	37	18	33935590	33935590	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33935590G>A	ENST00000590592.1	+	2	254	c.254G>A	c.(253-255)gGc>gAc	p.G85D	FHOD3_ENST00000257209.4_Missense_Mutation_p.G85D|FHOD3_ENST00000445677.1_Missense_Mutation_p.G85D|FHOD3_ENST00000359247.4_Missense_Mutation_p.G85D	NM_001281740.1	NP_001268669.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	85	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GAGTTGGAAGGCTTCCAGGAT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	73	79			NA	NA	18		NA											NA				33935590		2203	4300	6503	SO:0001583	missense			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775	80206	80206			26178	protein-coding gene	gene with protein product		609691			NA	11214970	Standard	XM_371114	NM_025135	NA	Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000590592.1:c.254G>A	18.37:g.33935590G>A	ENSP00000466937:p.Gly85Asp	NA	A8MQT4|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	37	CCDS32816.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031482	0.93575	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.22134	1.97;1.97;1.97	6.06	6.06	0.98353	GTPase-binding/formin homology 3 (1);	0.000000	0.85682	D	0.000000	T	0.45458	0.1343	L	0.58810	1.83	0.52501	D	0.999959	D;D;P	0.89917	0.999;1.0;0.585	D;D;B	0.87578	0.987;0.998;0.109	T	0.12091	-1.0561	10	0.56958	D	0.05	.	18.1147	0.89549	0.0:0.0:1.0:0.0	.	85;85;85	Q2V2M9;Q2V2M9-3;E5F5Q0	FHOD3_HUMAN;.;.	D	85	ENSP00000257209:G85D;ENSP00000352186:G85D;ENSP00000411430:G85D	ENSP00000257209:G85D	G	+	2	0	FHOD3	32189588	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.405000	0.97313	2.882000	0.98803	0.655000	0.94253	GGC	FHOD3-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460883.1		+	ENST00000590592.1	Missense_Mutation	SNP	18 : 33935590 - 33935590 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	34
KIAA1430	0	broad.mit.edu	37	4	186085198	186085198	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186085198G>T	ENST00000458385.2	-	4	1575	c.1456C>A	c.(1456-1458)Caa>Aaa	p.Q486K		NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		486										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		GGGCTATATTGGCCAAGAGTG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	144	147			NA	NA	4		NA											NA				186085198		1860	4094	5954	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000458385.2:c.1456C>A	4.37:g.186085198G>T	ENSP00000409964:p.Gln486Lys	NA	B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	37	CCDS47168.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.001628	0.35320	.	.	ENSG00000164323	ENST00000458385	T	0.30981	1.51	5.33	5.33	0.75918	.	.	.	.	.	T	0.21509	0.0518	N	0.19112	0.55	0.80722	D	1	P	0.40970	0.734	B	0.40329	0.326	T	0.02661	-1.1127	9	0.07990	T	0.79	-1.5405	17.1773	0.86844	0.0:0.0:1.0:0.0	.	486	Q9P2B7	K1430_HUMAN	K	486	ENSP00000409964:Q486K	ENSP00000409964:Q486K	Q	-	1	0	KIAA1430	186322192	1.000000	0.71417	0.895000	0.35142	0.300000	0.27592	5.747000	0.68689	2.637000	0.89404	0.655000	0.94253	CAA	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360717.2		-	ENST00000458385.2	Missense_Mutation	SNP	4 : 186085198 - 186085198 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	414	46
ROBO4	54538	broad.mit.edu	37	11	124765426	124765426	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124765426G>A	ENST00000306534.3	-	6	1448	c.963C>T	c.(961-963)ttC>ttT	p.F321F	ROBO4_ENST00000533054.1_Silent_p.F176F	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	321	Fibronectin type-III 1.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GTCTCACTTTGAACTCGTAGT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	54	52			NA	NA	11		NA											NA				124765426		2200	4298	6498	SO:0001819	synonymous_variant			AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133	54538	54538		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	17985	protein-coding gene	gene with protein product	magic roundabout	607528	roundabout homolog 4 (Drosophila)		NA	11076864	Standard	NM_019055	NM_019055	NA	Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.963C>T	11.37:g.124765426G>A		NA	A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	37	CCDS8455.1																																																																																			ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387111.1		-	ENST00000306534.3	Silent	SNP	11 : 124765426 - 124765426 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	659	129
KLHDC4	54758	broad.mit.edu	37	16	87744864	87744864	+	Missense_Mutation	SNP	G	G	A	rs141733244		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87744864G>A	ENST00000270583.5	-	9	1079	c.1021C>T	c.(1021-1023)Cgt>Tgt	p.R341C	KLHDC4_ENST00000353170.5_Missense_Mutation_p.R284C|KLHDC4_ENST00000347925.5_Missense_Mutation_p.R310C|KLHDC4_ENST00000566349.1_5'UTR	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	341										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		TCAAACCAACGGTTCCTGGTG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/ARG,CYS/ARG,CYS/ARG	2,4394	2.1+/-5.4	0,2,2196	108	103	105		850,928,1021	3.6	1	16	dbSNP_134	105	0,8600		0,0,4300	no	missense,missense,missense	KLHDC4	NM_001184854.1,NM_001184856.1,NM_017566.3	180,180,180	0,2,6496	AA,AG,GG	NA	0.0,0.0455,0.0154	probably-damaging,probably-damaging,probably-damaging	284/464,310/490,341/521	87744864	2,12994	2198	4300	6498	SO:0001583	missense			AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731	54758	54758			25272	protein-coding gene	gene with protein product					NA		Standard	NM_017566	NM_001184854	NA	Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.1021C>T	16.37:g.87744864G>A	ENSP00000270583:p.Arg341Cys	NA	D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	37	CCDS10963.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173339	0.57584	4.55E-4	0.0	ENSG00000104731	ENST00000270583;ENST00000316853;ENST00000347925;ENST00000353170	T;T;T	0.18502	2.21;2.21;2.21	4.54	3.59	0.41128	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.49626	0.1568	M	0.93462	3.42	0.80722	D	1	P;P;D;D	0.89917	0.892;0.939;1.0;1.0	B;B;D;D	0.83275	0.376;0.357;0.978;0.996	T	0.59252	-0.7489	10	0.59425	D	0.04	-18.6654	11.4437	0.50110	0.0889:0.0:0.9111:0.0	.	160;284;310;341	Q9UF94;Q8TBB5-2;Q8TBB5-3;Q8TBB5	.;.;.;KLDC4_HUMAN	C	341;160;310;284	ENSP00000270583:R341C;ENSP00000325717:R310C;ENSP00000262530:R284C	ENSP00000270583:R341C	R	-	1	0	KLHDC4	86302365	1.000000	0.71417	0.997000	0.53966	0.244000	0.25665	8.659000	0.91116	0.910000	0.36722	0.591000	0.81541	CGT	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269109.2		-	ENST00000270583.5	Missense_Mutation	SNP	16 : 87744864 - 87744864 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	510	73
PPL	5493	broad.mit.edu	37	16	4938987	4938987	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4938987C>A	ENST00000345988.2	-	19	2478	c.2389G>T	c.(2389-2391)Gct>Tct	p.A797S	PPL_ENST00000590782.2_Missense_Mutation_p.A795S	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	797					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						ACCTTTACAGCTTGCTGGTAC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													349	342	344			NA	NA	16		NA											NA				4938987		2197	4300	6497	SO:0001583	missense			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898	5493	5493			9273	protein-coding gene	gene with protein product		602871			NA	9570964, 9521878	Standard	NM_002705	NM_002705	NA	Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.2389G>T	16.37:g.4938987C>A	ENSP00000340510:p.Ala797Ser	NA	O60314|O60454|Q14C98	37	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837230	0.71373	.	.	ENSG00000118898	ENST00000345988	T	0.55052	0.54	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.72637	0.3485	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.74256	-0.3724	10	0.59425	D	0.04	.	18.3373	0.90293	0.0:1.0:0.0:0.0	.	797	O60437	PEPL_HUMAN	S	797	ENSP00000340510:A797S	ENSP00000340510:A797S	A	-	1	0	PPL	4878988	1.000000	0.71417	0.765000	0.31456	0.118000	0.20060	5.210000	0.65214	2.569000	0.86673	0.555000	0.69702	GCT	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251715.1		-	ENST00000345988.2	Missense_Mutation	SNP	16 : 4938987 - 4938987 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2737	511
KIF1B	23095	broad.mit.edu	37	1	10386320	10386320	+	Missense_Mutation	SNP	G	G	A	rs142567076	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10386320G>A	ENST00000377081.1	+	26	2906	c.2827G>A	c.(2827-2829)Gcc>Acc	p.A943T	KIF1B_ENST00000263934.6_Missense_Mutation_p.A897T|KIF1B_ENST00000377086.1_Missense_Mutation_p.A943T			O60333	KIF1B_HUMAN	kinesin family member 1B	943					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	p.A897T(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CGTGGATGACGCCGGCTCTGA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)						G	THR/ALA	0,4406		0,0,2203	138	122	127		2689	3.2	1	1	dbSNP_134	127	4,8596	3.7+/-12.6	0,4,4296	yes	missense	KIF1B	NM_015074.3	58	0,4,6499	AA,AG,GG	NA	0.0465,0.0,0.0308	benign	897/1771	10386320	4,13002	2203	4300	6503	SO:0001583	missense			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523	23095	23095		Kinesins, Pleckstrin homology (PH) domain containing	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2	NA	11389829, 10762626	Standard		NM_015074	NA	Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377081.1:c.2827G>A	1.37:g.10386320G>A	ENSP00000366284:p.Ala943Thr	NA	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	37		.	.	.	.	.	.	.	.	.	.	G	6.925	0.540275	0.13250	0.0	4.65E-4	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.71341	-0.49;-0.56;-0.56	5.6	3.16	0.36331	.	0.107337	0.64402	N	0.000005	T	0.31071	0.0785	N	0.00661	-1.28	0.27977	N	0.936175	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0	T	0.36016	-0.9765	10	0.05436	T	0.98	.	8.6096	0.33795	0.8277:0.0:0.1723:0.0	.	929;903;943;917;943;897	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	T	943;897;943;943	ENSP00000263934:A897T;ENSP00000366290:A943T;ENSP00000366284:A943T	ENSP00000263934:A897T	A	+	1	0	KIF1B	10308907	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.138000	0.58017	0.857000	0.35407	-0.355000	0.07637	GCC	KIF1B-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000005106.1		+	ENST00000377081.1	Missense_Mutation	SNP	1 : 10386320 - 10386320 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	584	117
PGBD1	84547	broad.mit.edu	37	6	28269043	28269043	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28269043G>A	ENST00000405948.2	+	7	1832	c.1412G>A	c.(1411-1413)aGg>aAg	p.R471K	PGBD1_ENST00000259883.3_Missense_Mutation_p.R471K	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	471					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GGATTTATGAGGCATCCTAGA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	166	167			NA	NA	6		NA											NA				28269043		2203	4300	6503	SO:0001583	missense			D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338	84547	84547		-	19398	protein-coding gene	gene with protein product					NA		Standard		NM_001184743	NA	Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1412G>A	6.37:g.28269043G>A	ENSP00000385213:p.Arg471Lys	NA	Q53F43|Q6NTF5|Q8WWS4	37	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	G	0.795	-0.757490	0.03019	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.17370	2.28;2.28	4.66	2.85	0.33270	.	0.521782	0.16320	N	0.219617	T	0.02494	0.0076	L	0.33485	1.01	0.09310	N	1	B	0.12013	0.005	B	0.15052	0.012	T	0.46498	-0.9187	10	0.02654	T	1	-8.2565	5.8593	0.18736	0.0984:0.0:0.7124:0.1891	.	471	Q96JS3	PGBD1_HUMAN	K	471	ENSP00000385213:R471K;ENSP00000259883:R471K	ENSP00000259883:R471K	R	+	2	0	PGBD1	28377022	0.006000	0.16342	0.013000	0.15412	0.981000	0.71138	0.070000	0.14573	0.673000	0.31224	0.655000	0.94253	AGG	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040188.2		+	ENST00000405948.2	Missense_Mutation	SNP	6 : 28269043 - 28269043 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	848	137
CEACAM5	1048	broad.mit.edu	37	19	42223929	42223929	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42223929C>T	ENST00000398599.4	+	7	1717	c.1570C>T	c.(1570-1572)Cct>Tct	p.P524S	CEACAM5_ENST00000405816.1_Missense_Mutation_p.P525S|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000221992.6_Missense_Mutation_p.P525S			P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	525	Ig-like 6.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CACCTGTGAACCTGAGGCTCA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	140	148			NA	NA	19		NA											NA				42223929		2203	4300	6503	SO:0001583	missense			M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388	1048	1048		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	1817	protein-coding gene	gene with protein product		114890		CEA	NA		Standard	NM_004363	XM_005258413	NA	Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000398599.4:c.1570C>T	19.37:g.42223929C>T	ENSP00000381600:p.Pro524Ser	NA		37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.682|4.682	0.126783|0.126783	0.08931|0.08931	.|.	.|.	ENSG00000105388|ENSG00000105388	ENST00000221992;ENST00000405816;ENST00000378181|ENST00000398599	T;T|.	0.02446|.	4.29;4.29|.	2.53|2.53	0.1|0.1	0.14510|0.14510	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	T|T	0.32615|0.32615	0.0835|0.0835	L|L	0.37800|0.37800	1.135|1.135	0.09310|0.09310	N|N	1|1	B;B|.	0.27700|.	0.032;0.186|.	B;B|.	0.35073|.	0.108;0.195|.	T|T	0.28650|0.28650	-1.0037|-1.0037	9|5	0.44086|.	T|.	0.13|.	.|.	6.8499|6.8499	0.24008|0.24008	0.5356:0.4644:0.0:0.0|0.5356:0.4644:0.0:0.0	.|.	525;525|.	P06731;Q53G30|.	CEAM5_HUMAN;.|.	S|I	525;525;243|520	ENSP00000221992:P525S;ENSP00000385072:P525S|.	ENSP00000221992:P525S|.	P|T	+|+	1|2	0|0	CEACAM5|CEACAM5	46915769|46915769	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.072000|0.072000	0.16883|0.16883	-4.237000|-4.237000	0.00268|0.00268	0.076000|0.076000	0.16826|0.16826	0.404000|0.404000	0.27445|0.27445	CCT|ACC	CEACAM5-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000321133.2		+	ENST00000398599.4	Missense_Mutation	SNP	19 : 42223929 - 42223929 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	887	144
FGB	2244	broad.mit.edu	37	4	155490772	155490772	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155490772C>A	ENST00000509493.1	+	5	682	c.408C>A	c.(406-408)caC>caA	p.H136Q	FGB_ENST00000302068.4_Missense_Mutation_p.H355Q|FGB_ENST00000502545.1_Intron			P02675	FIBB_HUMAN	fibrinogen beta chain	355					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TAAAGGCTCACTATGGAGGAT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(106;1133 1613 21870 46110 52656)							NA				0													111	102	105			NA	NA	4		NA											NA				155490772		2203	4300	6503	SO:0001583	missense				CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564	2244	2244		Fibrinogen C domain containing, Endogenous ligands	3662	protein-coding gene	gene with protein product		134830	fibrinogen, B beta polypeptide		NA		Standard	NM_005141	NM_005141	NA	Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000509493.1:c.408C>A	4.37:g.155490772C>A	ENSP00000426757:p.His136Gln	NA	B2R7G3|Q3KPF2	37		.	.	.	.	.	.	.	.	.	.	C	0.004	-2.347836	0.00219	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	T;T	0.75821	-0.97;-0.97	5.53	-0.582	0.11709	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.679797	0.15903	N	0.239000	T	0.31071	0.0785	N	0.00750	-1.22	0.21220	N	0.999751	B;B	0.17038	0.02;0.003	B;B	0.12837	0.008;0.005	T	0.31530	-0.9940	10	0.07990	T	0.79	.	0.5293	0.00626	0.3762:0.1746:0.1239:0.3253	.	338;355	B4E1D3;P02675	.;FIBB_HUMAN	Q	355;338;136	ENSP00000306099:H355Q;ENSP00000426757:H136Q	ENSP00000306099:H355Q	H	+	3	2	FGB	155710222	0.000000	0.05858	0.140000	0.22221	0.075000	0.17131	-1.869000	0.01643	-0.011000	0.14247	-0.961000	0.02630	CAC	FGB-010	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000365255.1		+	ENST00000509493.1	Missense_Mutation	SNP	4 : 155490772 - 155490772 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	454	83
GLE1	2733	broad.mit.edu	37	9	131277836	131277836	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131277836C>A	ENST00000309971.4	+	3	456	c.350C>A	c.(349-351)tCt>tAt	p.S117Y	GLE1_ENST00000539582.1_5'UTR|GLE1_ENST00000372770.4_Missense_Mutation_p.S117Y	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	117					poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						CACACAGAATCTATGGTACTT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	55	58			NA	NA	9		NA											NA				131277836		2203	4300	6503	SO:0001583	missense			AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392	2733	2733			4315	protein-coding gene	gene with protein product		603371	GLE1 (yeast homolog)-like, RNA export mediator, GLE1 RNA export mediator-like (yeast), GLE1 RNA export mediator (yeast), lethal congenital contracture syndrome 1, GLE1 RNA export mediator homolog (yeast)	GLE1L, LCCS1	NA	9618489, 18204449	Standard	NM_001003722	NM_001499	NA	Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.350C>A	9.37:g.131277836C>A	ENSP00000308622:p.Ser117Tyr	NA	O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	37	CCDS35154.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.482319	0.44147	.	.	ENSG00000119392	ENST00000309971;ENST00000372770	T;T	0.66280	-0.2;0.21	5.29	3.03	0.35002	.	0.591936	0.18162	N	0.149753	T	0.39759	0.1090	N	0.14661	0.345	0.09310	N	0.999996	B;B	0.24882	0.028;0.113	B;B	0.23574	0.021;0.047	T	0.18398	-1.0338	10	0.34782	T	0.22	-0.0107	6.0264	0.19658	0.0:0.6634:0.1937:0.1429	.	117;117	Q53GS7;Q53GS7-2	GLE1_HUMAN;.	Y	117	ENSP00000308622:S117Y;ENSP00000361856:S117Y	ENSP00000308622:S117Y	S	+	2	0	GLE1	130317657	0.000000	0.05858	0.002000	0.10522	0.735000	0.41995	0.530000	0.23036	1.198000	0.43158	0.462000	0.41574	TCT	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054456.1		+	ENST00000309971.4	Missense_Mutation	SNP	9 : 131277836 - 131277836 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	186	30
FAM131A	131408	broad.mit.edu	37	3	184062357	184062357	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184062357C>T	ENST00000418281.1	+	5	631	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000453072.1_Missense_Mutation_p.R149C|FAM131A_ENST00000383847.2_Missense_Mutation_p.R234C|FAM131A_ENST00000450976.1_Missense_Mutation_p.R149C|FAM131A_ENST00000340957.5_Missense_Mutation_p.R149C|FAM131A_ENST00000310585.4_Missense_Mutation_p.R203C			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	203						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCGGCCTGTGCGCCAGGGCTC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	57	54			NA	NA	3		NA											NA				184062357		2203	4300	6503	SO:0001583	missense			BC026221	CCDS3262.1, CCDS3262.2, CCDS54689.1	3q27.1	2007-03-20	2007-03-20	2007-03-20	ENSG00000175182	ENSG00000175182	131408	131408			28308	protein-coding gene	gene with protein product			chromosome 3 open reading frame 40	C3orf40	NA	12975309	Standard	NM_144635	NM_144635	NA	Approved	MGC21688	uc003foe.3	Q6UXB0	OTTHUMG00000156206	ENST00000418281.1:c.331C>T	3.37:g.184062357C>T	ENSP00000414050:p.Arg111Cys	NA	D3DNT6|Q8TA84	37		.	.	.	.	.	.	.	.	.	.	c	18.84	3.709851	0.68730	.	.	ENSG00000175182	ENST00000450976;ENST00000418281;ENST00000340957;ENST00000418768;ENST00000383847;ENST00000453072;ENST00000310585	T;T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84;1.84	5.4	5.4	0.78164	.	0.424092	0.24962	N	0.034217	T	0.45438	0.1342	L	0.47716	1.5	0.53688	D	0.999978	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.982;0.911;0.995	T	0.18398	-1.0338	10	0.44086	T	0.13	-16.6087	17.3588	0.87344	0.0:1.0:0.0:0.0	.	203;234;111	Q6UXB0;G5E9B1;C9JPT9	F131A_HUMAN;.;.	C	149;111;149;149;234;149;203	ENSP00000388551:R149C;ENSP00000414050:R111C;ENSP00000340974:R149C;ENSP00000414913:R149C;ENSP00000373360:R234C;ENSP00000390588:R149C;ENSP00000310135:R203C	ENSP00000310135:R203C	R	+	1	0	FAM131A	185545051	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	3.204000	0.51082	2.539000	0.85634	0.655000	0.94253	CGC	FAM131A-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000343463.1		+	ENST00000418281.1	Missense_Mutation	SNP	3 : 184062357 - 184062357 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	699	149
NTN5	126147	broad.mit.edu	37	19	49167894	49167894	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49167894G>A	ENST00000270235.4	-	3	857	c.762C>T	c.(760-762)tgC>tgT	p.C254C	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	254	Laminin EGF-like 2.					extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						ACCCAGGTTGGCAGTAGTGGC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	29	30			NA	NA	19		NA											NA				49167894		2203	4300	6503	SO:0001819	synonymous_variant				CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233	126147	126147		Netrins	25208	protein-coding gene	gene with protein product	Netrin-5				NA	12477932	Standard	NM_145807	NM_145807	NA	Approved		uc002pkb.3	Q8WTR8		ENST00000270235.4:c.762C>T	19.37:g.49167894G>A		NA	Q8N4X9|Q8WU63	37	CCDS33068.1																																																																																			NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466176.1		-	ENST00000270235.4	Silent	SNP	19 : 49167894 - 49167894 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	179	25
ACOXL	55289	broad.mit.edu	37	2	111551244	111551244	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:111551244G>A	ENST00000389811.4	+	4	401	c.177G>A	c.(175-177)tgG>tgA	p.W59*	ACOXL_ENST00000439055.1_Nonsense_Mutation_p.W59*|ACOXL_ENST00000340561.4_Nonsense_Mutation_p.W59*			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	59					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						TAATTTATTGGCTATTTGGTG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													190	178	182			NA	NA	2		NA											NA				111551244		1897	4120	6017	SO:0001587	stop_gained				CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093	55289	55289			25621	protein-coding gene	gene with protein product			acyl-Coenzyme A oxidase-like		NA		Standard	NM_018308	NM_001142807	NA	Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.177G>A	2.37:g.111551244G>A	ENSP00000374461:p.Trp59*	NA	A2RRB7|B7WPB3|B7WPP7|Q53R27|Q53R31|Q53SC6|Q8TCE7	37		.	.	.	.	.	.	.	.	.	.	G	36	5.708355	0.96821	.	.	ENSG00000153093	ENST00000389811;ENST00000439055;ENST00000340561;ENST00000448863	.	.	.	5.24	5.24	0.73138	.	0.417998	0.22554	N	0.058543	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-21.1242	16.3486	0.83191	0.0:0.0:1.0:0.0	.	.	.	.	X	59	.	ENSP00000343717:W59X	W	+	3	0	ACOXL	111267715	1.000000	0.71417	0.984000	0.44739	0.766000	0.43426	2.240000	0.43088	2.459000	0.83118	0.561000	0.74099	TGG	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000254024.2		+	ENST00000389811.4	Nonsense_Mutation	SNP	2 : 111551244 - 111551244 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	867	119
TMEM91	641649	broad.mit.edu	37	19	41860620	41860620	+	Silent	SNP	G	G	A	rs143680317	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41860620G>A	ENST00000539627.1	+	1	292				B9D2_ENST00000243578.3_Silent_p.Y171Y|TMEM91_ENST00000604123.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron					transmembrane protein 91	NA										lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						ACTCCACGCCGTAGCGGTCGA	0.637		NA											g	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	0.003	SNP								NA				0										1,4405	2.1+/-5.4	0,1,2202	85	69	74		513	-7.2	0	19	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	B9D2	NM_030578.3		0,2,6501	AA,AG,GG	NA	0.0116,0.0227,0.0154		171/176	41860620	2,13004	2203	4300	6503	SO:0001627	intron_variant			AK130820, BC063705	CCDS42571.1, CCDS42572.1, CCDS46082.1, CCDS46083.1, CCDS46084.1	19q13.2	2009-10-16					641649	641649			32393	protein-coding gene	gene with protein product	interferon induced transmembrane protein domain containing 6				NA	12477932	Standard		NM_001098824	NA	Approved	FLJ27310, IFITMD6		Q6ZNR0		ENST00000539627.1:c.-30+3513G>A	19.37:g.41860620G>A		NA		37																																																																																				TMEM91-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000398300.1		+	ENST00000539627.1	Intron	SNP	19 : 41860620 - 41860620 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	281	43
BTAF1	9044	broad.mit.edu	37	10	93711250	93711250	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93711250G>A	ENST00000265990.6	+	5	799	c.491G>A	c.(490-492)aGt>aAt	p.S164N		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	164					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ATTGGAATGAGTACTGAAGAA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	117	118			NA	NA	10		NA											NA				93711250		2203	4300	6503	SO:0001583	missense			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564	9044	9044			17307	protein-coding gene	gene with protein product	Mot1 homolog (S. cerevisiae)	605191	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)		NA	9342322, 9488487	Standard	NM_003972	NM_003972	NA	Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.491G>A	10.37:g.93711250G>A	ENSP00000265990:p.Ser164Asn	NA	O43578	37	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	5.879	0.346355	0.11126	.	.	ENSG00000095564	ENST00000265990	D	0.89746	-2.56	5.13	3.98	0.46160	Armadillo-type fold (1);	0.094082	0.64402	D	0.000001	T	0.67373	0.2886	N	0.02751	-0.505	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.64424	-0.6411	10	0.02654	T	1	0.5674	6.7274	0.23365	0.2115:0.0:0.7885:0.0	.	164	O14981	BTAF1_HUMAN	N	164	ENSP00000265990:S164N	ENSP00000265990:S164N	S	+	2	0	BTAF1	93701230	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.401000	0.59716	2.563000	0.86464	0.591000	0.81541	AGT	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049380.4		+	ENST00000265990.6	Missense_Mutation	SNP	10 : 93711250 - 93711250 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	600	69
CTDSP2	10106	broad.mit.edu	37	12	58223343	58223343	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58223343C>T	ENST00000398073.2	-	2	404	c.101G>A	c.(100-102)gGa>gAa	p.G34E	CTDSP2_ENST00000547701.1_5'UTR|CTDSP2_ENST00000548823.1_Missense_Mutation_p.G34E	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	34					protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					GATGTTACGTCCACGAGGCTT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	108	108			NA	NA	12		NA											NA				58223343		1990	4171	6161	SO:0001583	missense			AF000152	CCDS41801.1	12q14.1	2012-06-14			ENSG00000175215	ENSG00000175215	10106	10106		Serine/threonine phosphatases / CTD aspartate-based phosphatases	17077	protein-coding gene	gene with protein product	conserved gene amplified in osteosarcoma, nuclear LIM interactor-interacting factor 2, NLI-interacting factor 2, small CTD phosphatase 2	608711			NA	9315096, 12721286	Standard	NM_005730	XM_005268556	NA	Approved	OS4, SCP2, PSR2	uc001sqm.3	O14595	OTTHUMG00000170483	ENST00000398073.2:c.101G>A	12.37:g.58223343C>T	ENSP00000381148:p.Gly34Glu	NA	A8K5H4|Q53ZR2|Q6NZY3|Q9UEX1	37	CCDS41801.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567575	0.86439	.	.	ENSG00000175215	ENST00000398073;ENST00000548823	T;T	0.21932	2.38;1.98	4.68	4.68	0.58851	.	0.049788	0.85682	D	0.000000	T	0.31888	0.0811	L	0.34521	1.04	0.80722	D	1	D;B	0.89917	1.0;0.01	D;B	0.97110	1.0;0.01	T	0.01858	-1.1259	10	0.07482	T	0.82	-16.9848	16.8584	0.86011	0.0:1.0:0.0:0.0	.	34;34	F8W1I1;O14595	.;CTDS2_HUMAN	E	34	ENSP00000381148:G34E;ENSP00000447046:G34E	ENSP00000381148:G34E	G	-	2	0	CTDSP2	56509610	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.984000	0.63838	2.592000	0.87571	0.655000	0.94253	GGA	CTDSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409353.1		-	ENST00000398073.2	Missense_Mutation	SNP	12 : 58223343 - 58223343 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	545	48
SMARCAL1	50485	broad.mit.edu	37	2	217279897	217279897	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217279897C>T	ENST00000357276.4	+	3	800	c.470C>T	c.(469-471)aCa>aTa	p.T157I	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.T157I	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	157					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		ATCAGGTTCACACCCTTTGCT	0.507		NA							Schimke Immuno-Osseous Dysplasia					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	124	126			NA	NA	2		NA											NA				217279897		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	SIOD	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375	50485	50485			11102	protein-coding gene	gene with protein product	HepA-related protein, ATP-driven annealing helicase	606622			NA	10713074, 10857751, 18974355	Standard		NM_014140	NA	Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.470C>T	2.37:g.217279897C>T	ENSP00000349823:p.Thr157Ile	NA	A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	37	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	C	9.663	1.144706	0.21288	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000427645;ENST00000392128	T;T;T;D	0.87103	1.95;1.95;1.27;-2.21	4.69	1.94	0.25998	.	0.444855	0.22869	N	0.054653	T	0.74574	0.3734	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.63825	-0.6549	10	0.52906	T	0.07	.	9.1742	0.37100	0.0:0.7637:0.0:0.2363	.	157	Q9NZC9	SMAL1_HUMAN	I	157;157;56;21	ENSP00000349823:T157I;ENSP00000350940:T157I;ENSP00000392997:T56I;ENSP00000375974:T21I	ENSP00000349823:T157I	T	+	2	0	SMARCAL1	216988142	0.001000	0.12720	0.002000	0.10522	0.006000	0.05464	0.432000	0.21461	0.234000	0.21139	-0.137000	0.14449	ACA	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256671.2		+	ENST00000357276.4	Missense_Mutation	SNP	2 : 217279897 - 217279897 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	645	160
CKM	1158	broad.mit.edu	37	19	45821219	45821219	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45821219G>T	ENST00000221476.3	-	3	386	c.212C>A	c.(211-213)aCc>aAc	p.T71N		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	71	Phosphagen kinase N-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GCAGCCCACGGTCATGATGAA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	50	53			NA	NA	19		NA											NA				45821219		2203	4300	6503	SO:0001583	missense			M14780	CCDS12659.1	19q13.32	2012-10-02			ENSG00000104879	ENSG00000104879	1158	1158	2.7.3.2		1994	protein-coding gene	gene with protein product		123310		CKMM	NA		Standard		NM_001824	NA	Approved		uc002pbd.4	P06732		ENST00000221476.3:c.212C>A	19.37:g.45821219G>T	ENSP00000221476:p.Thr71Asn	NA	Q96QL9	37	CCDS12659.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941778	0.73557	.	.	ENSG00000104879	ENST00000221476	T	0.65549	-0.16	4.62	4.62	0.57501	ATP:guanido phosphotransferase, N-terminal (4);	0.057508	0.64402	D	0.000001	T	0.72003	0.3407	M	0.89601	3.045	0.46678	D	0.999158	B	0.33198	0.401	B	0.38655	0.278	T	0.75886	-0.3159	10	0.45353	T	0.12	-32.8407	15.0581	0.71930	0.0:0.0:1.0:0.0	.	71	P06732	KCRM_HUMAN	N	71	ENSP00000221476:T71N	ENSP00000221476:T71N	T	-	2	0	CKM	50513059	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	9.215000	0.95146	2.418000	0.82041	0.650000	0.86243	ACC	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457569.1		-	ENST00000221476.3	Missense_Mutation	SNP	19 : 45821219 - 45821219 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	244	35
TSC2	7249	broad.mit.edu	37	16	2124212	2124212	+	Silent	SNP	C	C	A	rs137854061		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2124212C>A	ENST00000219476.3	+	22	2997	c.2367C>A	c.(2365-2367)gtC>gtA	p.V789V	TSC2_ENST00000382538.6_Silent_p.V740V|TSC2_ENST00000350773.4_Silent_p.V789V|TSC2_ENST00000568454.1_Silent_p.V800V|TSC2_ENST00000439673.2_Silent_p.V752V|TSC2_ENST00000401874.2_Silent_p.V789V|TSC2_ENST00000353929.4_Silent_p.V789V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	789					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GCGAGATGGTCTACTGCCTGG	0.652		NA	D, Mis, N, F, S			hamartoma, renal cell			Tuberous Sclerosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		E, O	0													71	57	62			NA	NA	16		NA											NA				2124212		2198	4300	6498	SO:0001819	synonymous_variant	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197	7249	7249			12363	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 160	191092		TSC4	NA	1303246, 7558029	Standard	NM_000548	NM_001077183	NA	Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.2367C>A	16.37:g.2124212C>A		NA	A7E2E2|B4DIQ7|B4DRN2|C9J378|O75275|Q4LE71|Q8TAZ1	37	CCDS10458.1																																																																																			TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250657.2		+	ENST00000219476.3	Silent	SNP	16 : 2124212 - 2124212 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	274	50
FAT4	79633	broad.mit.edu	37	4	126238257	126238257	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126238257C>T	ENST00000394329.3	+	1	704	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	231	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCCTAAGCGGCGGGGCTACCT	0.597		NA									OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	39	37			NA	NA	4		NA											NA				126238257		2069	4201	6270	SO:0001583	missense			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159	79633	79633		Cadherins / Cadherin-related	23109	protein-coding gene	gene with protein product	cadherin-related family member 11	612411	FAT tumor suppressor homolog 4 (Drosophila)		NA	15003449	Standard	NM_024582	NM_024582	NA	Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.691C>T	4.37:g.126238257C>T	ENSP00000377862:p.Arg231Trp	1548	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	12.71	2.019790	0.35606	.	.	ENSG00000196159	ENST00000394329	T	0.53206	0.63	5.13	4.27	0.50696	Cadherin (4);Cadherin-like (1);	0.000000	0.32430	U	0.006116	T	0.54743	0.1877	L	0.46947	1.48	0.80722	D	1	D	0.69078	0.997	D	0.63033	0.91	T	0.51325	-0.8720	10	0.37606	T	0.19	.	9.1011	0.36669	0.0:0.7744:0.1487:0.0769	.	231	Q6V0I7	FAT4_HUMAN	W	231	ENSP00000377862:R231W	ENSP00000377862:R231W	R	+	1	2	FAT4	126457707	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	2.299000	0.43611	1.102000	0.41551	0.655000	0.94253	CGG	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256765.2		+	ENST00000394329.3	Missense_Mutation	SNP	4 : 126238257 - 126238257 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	48
MS4A1	931	broad.mit.edu	37	11	60229917	60229917	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60229917C>T	ENST00000534668.1	+	2	359	c.70C>T	c.(70-72)Caa>Taa	p.Q24*	MS4A1_ENST00000345732.4_Nonsense_Mutation_p.Q24*|MS4A1_ENST00000532073.1_Nonsense_Mutation_p.Q24*|MS4A1_ENST00000528313.1_Nonsense_Mutation_p.Q24*|MS4A1_ENST00000389939.2_Nonsense_Mutation_p.Q24*|MS4A1_ENST00000534503.1_3'UTR	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	24					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	TATTGCTATGCAATCTGGTCC	0.448		NA											C	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	0.0027	SNP								NA				0													72	74	73			NA	NA	11		NA											NA				60229917		2203	4300	6503	SO:0001587	stop_gained			M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738	931	931		CD molecules	7315	protein-coding gene	gene with protein product		112210		CD20	NA	2448768	Standard		NM_152866	NA	Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.70C>T	11.37:g.60229917C>T	ENSP00000433277:p.Gln24*	NA	A6NMS4|P08984|Q13963	37	CCDS31570.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.07	3.541864	0.65198	.	.	ENSG00000156738	ENST00000345732;ENST00000532073;ENST00000534668;ENST00000528313;ENST00000533306;ENST00000389939	.	.	.	5.21	1.14	0.20703	.	0.693696	0.12943	N	0.426474	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	0.1374	3.7868	0.08703	0.1675:0.5457:0.0:0.2868	.	.	.	.	X	24;24;24;24;27;24	.	ENSP00000314620:Q24X	Q	+	1	0	MS4A1	59986493	0.054000	0.20591	0.000000	0.03702	0.006000	0.05464	0.508000	0.22692	-0.044000	0.13491	0.655000	0.94253	CAA	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395402.1		+	ENST00000534668.1	Nonsense_Mutation	SNP	11 : 60229917 - 60229917 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	360	15
TRIP12	9320	broad.mit.edu	37	2	230636293	230636293	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:230636293C>A	ENST00000389045.3	-	36	4787	c.4715G>T	c.(4714-4716)aGa>aTa	p.R1572I	TRIP12_ENST00000283943.5_Missense_Mutation_p.R1842I|TRIP12_ENST00000389044.4_Missense_Mutation_p.R1890I			Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1842					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AAATCCATCTCTGAACGAATC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	83	83			NA	NA	2		NA											NA				230636293		2203	4300	6503	SO:0001583	missense			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827	9320	9320			12306	protein-coding gene	gene with protein product		604506			NA	7776974	Standard	NM_004238	XM_005246961	NA	Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000389045.3:c.4715G>T	2.37:g.230636293C>A	ENSP00000373697:p.Arg1572Ile	NA	Q15644	37		.	.	.	.	.	.	.	.	.	.	C	34	5.292648	0.95546	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.48836	0.8;0.8;0.8	5.85	5.85	0.93711	HECT (4);	0.000000	0.85682	D	0.000000	T	0.64527	0.2606	L	0.41961	1.31	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.77557	0.99;0.99;0.99	T	0.64715	-0.6342	10	0.87932	D	0	.	20.1542	0.98100	0.0:1.0:0.0:0.0	.	1572;1890;1842	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	I	1842;1572;1890	ENSP00000283943:R1842I;ENSP00000373697:R1572I;ENSP00000373696:R1890I	ENSP00000283943:R1842I	R	-	2	0	TRIP12	230344537	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.355000	0.79434	2.767000	0.95098	0.563000	0.77884	AGA	TRIP12-005	NOVEL	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000331865.1		-	ENST00000389045.3	Missense_Mutation	SNP	2 : 230636293 - 230636293 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	377	75
GCDH	2639	broad.mit.edu	37	19	13008537	13008537	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13008537C>A	ENST00000222214.5	+	11	1314	c.1103C>A	c.(1102-1104)tCt>tAt	p.S368Y	GCDH_ENST00000457854.1_Missense_Mutation_p.S368Y|GCDH_ENST00000591470.1_Missense_Mutation_p.S368Y|GCDH_ENST00000422947.2_Missense_Mutation_p.S324Y			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	368					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						GAGATGGTTTCTCTGCTGAAG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(123;875 1636 7726 16444 26754)							NA				0													122	131	128			NA	NA	19		NA											NA				13008537		2203	4300	6503	SO:0001583	missense			AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	2639	2639	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	glutaryl-Coenzyme A dehydrogenase		NA	1438360, 8088809	Standard		NM_000159	NA	Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.1103C>A	19.37:g.13008537C>A	ENSP00000222214:p.Ser368Tyr	NA	A8K2Z2|O14719	37	CCDS12286.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.334551	0.81801	.	.	ENSG00000105607	ENST00000457854;ENST00000222214;ENST00000422947	D;D;D	0.96967	-4.19;-4.19;-4.19	5.6	5.6	0.85130	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99184	0.9717	H	0.99794	4.785	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98591	1.0654	10	0.87932	D	0	.	17.0969	0.86637	0.0:1.0:0.0:0.0	.	324;204;368;368	B4DK85;B4DUY0;Q92947;Q92947-2	.;.;GCDH_HUMAN;.	Y	368;368;324	ENSP00000394872:S368Y;ENSP00000222214:S368Y;ENSP00000394821:S324Y	ENSP00000222214:S368Y	S	+	2	0	GCDH	12869537	1.000000	0.71417	0.998000	0.56505	0.631000	0.37964	7.420000	0.80191	2.644000	0.89710	0.655000	0.94253	TCT	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451897.1		+	ENST00000222214.5	Missense_Mutation	SNP	19 : 13008537 - 13008537 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1050	251
HADHA	3030	broad.mit.edu	37	2	26437387	26437387	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26437387C>A	ENST00000380649.3	-	9	972	c.843G>T	c.(841-843)caG>caT	p.Q281H	HADHA_ENST00000457468.2_Missense_Mutation_p.Q194H	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	281					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	TTTTGTAAACCTGTTGCCTGA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	135	139			NA	NA	2		NA											NA				26437387		2203	4300	6503	SO:0001583	missense			D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	3030	3030	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	gastrin-binding protein, long-chain-3-hydroxyacyl-CoA dehydrogenase, long-chain 2-enoyl-CoA hydratase, mitochondrial trifunctional protein, alpha subunit	600890	hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit		NA	9605857, 7918661	Standard	NM_000182	NM_000182	NA	Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.843G>T	2.37:g.26437387C>A	ENSP00000370023:p.Gln281His	NA	B2R7L4|Q16679|Q96GT7	37	CCDS1721.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.053627	0.36277	.	.	ENSG00000084754	ENST00000380649;ENST00000457468	T;T	0.72051	-0.62;-0.62	5.64	0.734	0.18294	.	0.000000	0.85682	D	0.000000	T	0.72479	0.3465	M	0.80982	2.52	0.53005	D	0.99996	P;P;P	0.45011	0.848;0.844;0.844	P;P;P	0.51055	0.652;0.657;0.657	T	0.65340	-0.6192	10	0.27785	T	0.31	-21.0299	4.6841	0.12750	0.138:0.4851:0.0:0.377	.	194;281;281	B4DYP2;E9KL44;P40939	.;.;ECHA_HUMAN	H	281;194	ENSP00000370023:Q281H;ENSP00000405344:Q194H	ENSP00000370023:Q281H	Q	-	3	2	HADHA	26290891	0.719000	0.27986	0.264000	0.24511	0.980000	0.70556	0.215000	0.17562	-0.075000	0.12798	-0.143000	0.13931	CAG	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214051.1		-	ENST00000380649.3	Missense_Mutation	SNP	2 : 26437387 - 26437387 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	467	132
CRX	1406	broad.mit.edu	37	19	48342916	48342916	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48342916G>A	ENST00000221996.7	+	4	798	c.592G>A	c.(592-594)Gcc>Acc	p.A198T	CRX_ENST00000539067.1_Missense_Mutation_p.A198T|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	198					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CTACGCCCCGGCCTCCGCTTT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(57;461 1196 22201 40716 47188)							NA				0													61	64	63			NA	NA	19		NA											NA				48342916		2203	4300	6503	SO:0001583	missense			AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392	1406	1406		Homeoboxes / PRD class	2383	protein-coding gene	gene with protein product	orthodenticle homeobox 3	602225		CORD2	NA	9390563, 9537410	Standard	NM_000554	NM_000554	NA	Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.592G>A	19.37:g.48342916G>A	ENSP00000221996:p.Ala198Thr	NA		37	CCDS12706.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.481258	0.26598	.	.	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.87103	-2.21;-2.21	4.46	3.41	0.39046	Transcription factor Otx, C-terminal (1);	0.000000	0.64402	D	0.000004	D	0.83889	0.5352	L	0.27053	0.805	0.37373	D	0.911731	D	0.56287	0.975	P	0.54372	0.75	T	0.82238	-0.0556	10	0.27785	T	0.31	-11.2854	10.3854	0.44136	0.0984:0.0:0.9016:0.0	.	198	O43186	CRX_HUMAN	T	198	ENSP00000221996:A198T;ENSP00000445565:A198T	ENSP00000221996:A198T	A	+	1	0	CRX	53034728	0.998000	0.40836	0.042000	0.18584	0.312000	0.27988	3.493000	0.53266	0.860000	0.35481	0.467000	0.42956	GCC	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409812.4		+	ENST00000221996.7	Missense_Mutation	SNP	19 : 48342916 - 48342916 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	780	167
CRTC3	64784	broad.mit.edu	37	15	91083357	91083357	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91083357G>A	ENST00000420329.2	+	2	366	c.219G>A	c.(217-219)gcG>gcA	p.A73A	CRTC3_ENST00000268184.6_Silent_p.A73A|CRTC3_ENST00000558619.1_3'UTR|CRTC3_ENST00000560098.1_Silent_p.A73A	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	73	Required for interaction with HTLV-1 TAX.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GGAGCAGTGCGTCAGAGTTTC	0.423		NA	T	MAML2	salivary gland mucoepidermoid								G	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	4e-04	SNP			Dom	yes		15	15q26.1	64784	CREB regulated transcription coactivator 3		E	0													96	91	93			NA	NA	15		NA											NA				91083357		2198	4298	6496	SO:0001819	synonymous_variant				CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577	64784	64784			26148	protein-coding gene	gene with protein product		608986			NA	14536081, 14506290	Standard	NM_022769	NM_022769	NA	Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000420329.2:c.219G>A	15.37:g.91083357G>A		NA	Q6DK61|Q6DK62|Q8NF38|Q9H6U2	37	CCDS45348.1																																																																																			CRTC3-002	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417715.1		+	ENST00000420329.2	Silent	SNP	15 : 91083357 - 91083357 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	256	61
EFCAB11	90141	broad.mit.edu	37	14	90263636	90263636	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90263636C>A	ENST00000316738.7	-	6	471	c.443G>T	c.(442-444)aGc>aTc	p.S148I	RP11-33N16.3_ENST00000555070.1_RNA|EFCAB11_ENST00000556609.1_Missense_Mutation_p.S100I|EFCAB11_ENST00000555872.1_Missense_Mutation_p.S124I	NM_001284267.1|NM_145231.3	NP_001271196.1|NP_660274.1	Q9BUY7	EFC11_HUMAN	EF-hand calcium binding domain 11	148	EF-hand 3.						calcium ion binding			large_intestine(1)|lung(1)	2						GTCTCTAAAGCTGACGTGACC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	144	152			NA	NA	14		NA											NA				90263636		2203	4300	6503	SO:0001583	missense			AK094740	CCDS9887.1, CCDS61522.1, CCDS61523.1, CCDS61524.1, CCDS61525.1	14q32.11	2013-01-10	2011-01-31	2011-01-31	ENSG00000140025	ENSG00000140025	90141	90141		EF-hand domain containing	20357	protein-coding gene	gene with protein product			chromosome 14 open reading frame 143	C14orf143	NA		Standard	NM_145231	NM_145231	NA	Approved		uc001xxt.3	Q9BUY7	OTTHUMG00000148671	ENST00000316738.7:c.443G>T	14.37:g.90263636C>A	ENSP00000326267:p.Ser148Ile	NA	B3KT10|Q86T09|Q86TV7|Q8NDQ1	37	CCDS9887.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311108	0.81358	.	.	ENSG00000140025	ENST00000316738;ENST00000555872;ENST00000556609	T;T;T	0.77229	-1.08;-1.08;-1.08	6.03	6.03	0.97812	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.89598	0.6761	M	0.89030	3	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.75484	0.986;0.962	D	0.90764	0.4667	10	0.87932	D	0	-14.5587	15.0707	0.72034	0.0:0.8588:0.1411:0.0	.	148;124	Q9BUY7;Q9BUY7-2	EFC11_HUMAN;.	I	148;124;100	ENSP00000326267:S148I;ENSP00000452320:S124I;ENSP00000452335:S100I	ENSP00000326267:S148I	S	-	2	0	EFCAB11	89333389	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.800000	0.47900	2.861000	0.98227	0.655000	0.94253	AGC	EFCAB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000309022.2		-	ENST00000316738.7	Missense_Mutation	SNP	14 : 90263636 - 90263636 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	400	25
PHF2	5253	broad.mit.edu	37	9	96435918	96435918	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96435918C>T	ENST00000359246.4	+	18	2767	c.2400C>T	c.(2398-2400)tcC>tcT	p.S800S	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	800					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GAATGCTGTCCATGGCCAACC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	34	33			NA	NA	9		NA											NA				96435918		2203	4300	6503	SO:0001819	synonymous_variant			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724	5253	5253		Chromatin-modifying enzymes / K-demethylases, Zinc fingers, PHD-type	8920	protein-coding gene	gene with protein product	jumonji C domain-containing histone demethylase 1E, centromere protein 35	604351			NA	10051327, 20129925	Standard	NM_005392	NM_005392	NA	Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.2400C>T	9.37:g.96435918C>T		NA	Q4VXG0|Q8N3K2|Q9Y6N4	37	CCDS35069.1																																																																																			PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053162.1		+	ENST00000359246.4	Silent	SNP	9 : 96435918 - 96435918 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	47
SERTAD2	9792	broad.mit.edu	37	2	64863943	64863943	+	Silent	SNP	G	G	A	rs78389198	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64863943G>A	ENST00000313349.3	-	2	360	c.63C>T	c.(61-63)atC>atT	p.I21I	SERTAD2_ENST00000476805.2_5'UTR	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	21					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						AGGGAGACACGATTTTGCCTT	0.468		NA											G	8	0.0037	0.02	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0037	1	LOWCOV,EXOME	NA	NA	0.0025	SNP								NA				0								G		73,4333	64.7+/-102.0	0,73,2130	151	136	141		63	-1.6	0.9	2	dbSNP_132	141	0,8600		0,0,4300	no	coding-synonymous	SERTAD2	NM_014755.2		0,73,6430	AA,AG,GG	NA	0.0,1.6568,0.5613		21/315	64863943	73,12933	2203	4300	6503	SO:0001819	synonymous_variant			D50917	CCDS33210.1	2p15	2007-05-01			ENSG00000179833	ENSG00000179833	9792	9792			30784	protein-coding gene	gene with protein product	transcriptional regulator interacting with the PHS-bromodomain 2				NA	8590280, 11331592	Standard	NM_014755	NM_014755	NA	Approved	TRIP-Br2, KIAA0127, Sei-2	uc002sde.2	Q14140	OTTHUMG00000152678	ENST00000313349.3:c.63C>T	2.37:g.64863943G>A		NA	Q53TS2	37	CCDS33210.1																																																																																			SERTAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327322.2		-	ENST00000313349.3	Silent	SNP	2 : 64863943 - 64863943 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	816	144
OR52I2	143502	broad.mit.edu	37	11	4608988	4608988	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4608988G>T	ENST00000312614.4	+	1	968	c.946G>T	c.(946-948)Gcc>Tcc	p.A316S		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	316					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATCATCCCAGCCACCTTAAA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													198	187	191			NA	NA	11		NA											NA				4608988		2201	4298	6499	SO:0001583	missense			BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288	143502	143502		GPCR / Class A : Olfactory receptors	15221	protein-coding gene	gene with protein product					NA		Standard	NM_001005170	NM_001005170	NA	Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.946G>T	11.37:g.4608988G>T	ENSP00000308764:p.Ala316Ser	NA	B2RNJ5|B9EKV8|Q6IFJ8	37	CCDS31355.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.245293	0.22796	.	.	ENSG00000226288	ENST00000312614	T	0.62788	-0.0	4.18	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	0.499351	0.16881	N	0.195686	T	0.41026	0.1141	N	0.12182	0.205	0.25894	N	0.983433	B	0.22003	0.063	B	0.17433	0.018	T	0.35943	-0.9768	10	0.87932	D	0	-4.6209	8.0732	0.30701	0.0:0.7377:0.1695:0.0927	.	316	Q8NH67	O52I2_HUMAN	S	316	ENSP00000308764:A316S	ENSP00000308764:A316S	A	+	1	0	OR52I2	4565564	0.000000	0.05858	0.973000	0.42090	0.344000	0.29017	-0.301000	0.08232	0.429000	0.26202	-0.936000	0.02699	GCC	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385946.1		+	ENST00000312614.4	Missense_Mutation	SNP	11 : 4608988 - 4608988 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	856	73
GNRH2	2797	broad.mit.edu	37	20	3025459	3025459	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3025459C>T	ENST00000380347.2	+	2	673	c.268C>T	c.(268-270)Cga>Tga	p.R90*	GNRH2_ENST00000359987.1_Nonsense_Mutation_p.R89*|GNRH2_ENST00000245983.2_Nonsense_Mutation_p.R97*|GNRH2_ENST00000359100.2_Nonsense_Mutation_p.R90*|GNRH2_ENST00000380346.2_Nonsense_Mutation_p.R89*			O43555	GON2_HUMAN	gonadotropin-releasing hormone 2	97					multicellular organismal development|signal transduction	extracellular region|soluble fraction	hormone activity			ovary(1)|upper_aerodigestive_tract(1)	2						TCACAGGAAGCGACACCTGGC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	32	33			NA	NA	20		NA											NA				3025459		2203	4300	6503	SO:0001587	stop_gained			AF036329	CCDS13040.1, CCDS13041.1, CCDS13042.1	20p13	2013-02-26			ENSG00000125787	ENSG00000125787	2797	2797		Endogenous ligands	4420	protein-coding gene	gene with protein product		602352			NA	9419371, 12447356	Standard	NM_001501	NM_178331	NA	Approved		uc002whr.1	O43555	OTTHUMG00000031723	ENST00000380347.2:c.268C>T	20.37:g.3025459C>T	ENSP00000369705:p.Arg90*	NA	Q14C68|Q14C69|Q9BYN9|Q9BYP0	37	CCDS13041.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733969	0.48939	.	.	ENSG00000125787	ENST00000245983;ENST00000359100;ENST00000359987;ENST00000380347;ENST00000380346	.	.	.	4.44	2.47	0.30058	.	0.836298	0.09727	N	0.763668	.	.	.	.	.	.	0.38892	D	0.957146	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.2486	0.26135	0.0:0.7859:0.0:0.2141	.	.	.	.	X	97;90;89;90;89	.	ENSP00000245983:R97X	R	+	1	2	GNRH2	2973459	0.998000	0.40836	0.047000	0.18901	0.031000	0.12232	2.886000	0.48578	0.571000	0.29365	0.655000	0.94253	CGA	GNRH2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077696.1		+	ENST00000380347.2	Nonsense_Mutation	SNP	20 : 3025459 - 3025459 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	146	22
STK31	56164	broad.mit.edu	37	7	23749932	23749932	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23749932G>T	ENST00000355870.3	+	1	147	c.28G>T	c.(28-30)Gct>Tct	p.A10S	STK31_ENST00000433467.2_Missense_Mutation_p.A10S	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	10							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTCTTCTAGAGCTTCCGCAAC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													213	172	186			NA	NA	7		NA											NA				23749932		2203	4300	6503	SO:0001583	missense			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335	56164	56164		Tudor domain containing	11407	protein-coding gene	gene with protein product		605790			NA	11279525	Standard	NM_031414	NM_031414	NA	Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.28G>T	7.37:g.23749932G>T	ENSP00000348132:p.Ala10Ser	NA	B7WPP5|Q6PCD3|Q9BXH8	37	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	G	0.228	-1.022901	0.02061	.	.	ENSG00000196335	ENST00000355870;ENST00000433467	T;T	0.67698	-0.28;1.44	3.92	-0.115	0.13560	.	1.139810	0.06538	N	0.742708	T	0.44540	0.1298	N	0.08118	0	0.09310	N	1	B;B	0.22800	0.043;0.075	B;B	0.19946	0.018;0.027	T	0.34502	-0.9826	10	0.51188	T	0.08	0.3504	6.2791	0.20997	0.5233:0.0:0.4767:0.0	.	10;10	B4DZ06;Q9BXU1	.;STK31_HUMAN	S	10	ENSP00000348132:A10S;ENSP00000411852:A10S	ENSP00000348132:A10S	A	+	1	0	STK31	23716457	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.020000	0.12525	-0.036000	0.13669	-0.266000	0.10368	GCT	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214036.2		+	ENST00000355870.3	Missense_Mutation	SNP	7 : 23749932 - 23749932 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	309	76
SHANK3	85358	broad.mit.edu	37	22	51142313	51142313	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51142313G>T	ENST00000414786.2	+	13	1823	c.1596G>T	c.(1594-1596)cgG>cgT	p.R532R	SHANK3_ENST00000262795.3_Silent_p.R562R|SHANK3_ENST00000445220.2_Silent_p.R547R			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	562										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GGACGAAGCGGCTCTTTCGGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	39	37			NA	NA	22		NA											NA				51142313		2117	4202	6319	SO:0001819	synonymous_variant			AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322	85358	85358		Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	14294	protein-coding gene	gene with protein product	proline rich synapse associated protein 2, shank postsynaptic density protein	606230			NA	11258795, 11431708, 10806096, 17173049	Standard	NM_001080420	NM_033517	NA	Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.1596G>T	22.37:g.51142313G>T		NA		37																																																																																				SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000316674.2		+	ENST00000414786.2	Silent	SNP	22 : 51142313 - 51142313 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	79	12
ATP2A1	487	broad.mit.edu	37	16	28913689	28913689	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28913689C>T	ENST00000395503.4	+	17	2690	c.2506C>T	c.(2506-2508)Cgc>Tgc	p.R836C	ATP2A1_ENST00000357084.3_Missense_Mutation_p.R836C|ATP2A1_ENST00000536376.1_Missense_Mutation_p.R711C	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	836					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GCTCTTCTTCCGCTACATGGC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	49	46			NA	NA	16		NA											NA				28913689		2197	4300	6497	SO:0001583	missense				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	487	487	3.6.3.8	ATPases / P-type	811	protein-coding gene	gene with protein product	sarcoplasmic/endoplasmic reticulum calcium ATPase 1, calcium pump 1	108730		ATP2A	NA		Standard	NM_004320	NM_004320	NA	Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000395503.4:c.2506C>T	16.37:g.28913689C>T	ENSP00000378879:p.Arg836Cys	NA	A8K5J9|O14984	37	CCDS42139.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674581	0.67928	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000536376	D;D;D	0.96168	-3.93;-3.93;-3.93	4.83	3.88	0.44766	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98213	0.9409	H	0.95780	3.72	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	D	0.98766	1.0726	10	0.87932	D	0	.	12.2849	0.54788	0.0:0.9152:0.0:0.0848	.	711;836;836	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	C	836;836;711	ENSP00000349595:R836C;ENSP00000378879:R836C;ENSP00000443101:R711C	ENSP00000349595:R836C	R	+	1	0	ATP2A1	28821190	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.778000	0.68940	1.250000	0.43966	0.561000	0.74099	CGC	ATP2A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254687.2		+	ENST00000395503.4	Missense_Mutation	SNP	16 : 28913689 - 28913689 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	603	49
ADAMTS17	170691	broad.mit.edu	37	15	100821525	100821525	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100821525G>A	ENST00000268070.4	-	4	803	c.698C>T	c.(697-699)aCg>aTg	p.T233M		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	233	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GGTCTCCACCGTGTGCTCGCT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	44	44			NA	NA	15		NA											NA				100821525		2203	4299	6502	SO:0001583	missense			AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470	170691	170691		ADAM metallopeptidases with thrombospondin type 1 motif	17109	protein-coding gene	gene with protein product		607511	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17		NA	11867212	Standard	NM_139057	NM_139057	NA	Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.698C>T	15.37:g.100821525G>A	ENSP00000268070:p.Thr233Met	NA	Q2I7G4|Q6ZN75	37	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032945	0.75504	.	.	ENSG00000140470	ENST00000268070	D	0.87491	-2.26	4.89	4.89	0.63831	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);	0.062019	0.64402	D	0.000009	D	0.90796	0.7110	L	0.46157	1.445	0.58432	D	0.999992	D	0.89917	1.0	D	0.68621	0.959	D	0.89864	0.4018	10	0.35671	T	0.21	.	18.0645	0.89387	0.0:0.0:1.0:0.0	.	233	Q8TE56	ATS17_HUMAN	M	233	ENSP00000268070:T233M	ENSP00000268070:T233M	T	-	2	0	ADAMTS17	98639048	1.000000	0.71417	0.298000	0.25002	0.984000	0.73092	5.800000	0.69108	2.259000	0.74868	0.462000	0.41574	ACG	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313595.1		-	ENST00000268070.4	Missense_Mutation	SNP	15 : 100821525 - 100821525 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	293	91
GRB10	2887	broad.mit.edu	37	7	50694671	50694671	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50694671A>C	ENST00000403097.1	-	7	1271	c.491T>G	c.(490-492)gTt>gGt	p.V164G	GRB10_ENST00000407526.1_Missense_Mutation_p.V112G|GRB10_ENST00000402497.1_Missense_Mutation_p.V112G|GRB10_ENST00000439599.1_Missense_Mutation_p.V164G|GRB10_ENST00000335866.3_Missense_Mutation_p.V112G|GRB10_ENST00000401949.1_Missense_Mutation_p.V170G|GRB10_ENST00000398812.2_Missense_Mutation_p.V170G|GRB10_ENST00000357271.5_Missense_Mutation_p.V170G|GRB10_ENST00000402578.1_Missense_Mutation_p.V112G|GRB10_ENST00000398810.2_Missense_Mutation_p.V112G|GRB10_ENST00000406641.1_Missense_Mutation_p.V112G			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	170					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					AAAGACTTTAACATCCTGCAA	0.383		NA							Russell-Silver syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													216	211	212			NA	NA	7		NA											NA				50694671		1936	4138	6074	SO:0001583	missense	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070	2887	2887		Pleckstrin homology (PH) domain containing, SH2 domain containing	4564	protein-coding gene	gene with protein product		601523			NA		Standard		NM_005311	NA	Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000403097.1:c.491T>G	7.37:g.50694671A>C	ENSP00000385544:p.Val164Gly	NA	A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	37		.	.	.	.	.	.	.	.	.	.	A	23.9	4.471788	0.84533	.	.	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000335866;ENST00000398810;ENST00000402578;ENST00000403097;ENST00000406641;ENST00000357271;ENST00000407526;ENST00000401949;ENST00000402497	T;T;T;T;T;T;T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09	5.18	5.18	0.71444	Ras-association (3);	0.059542	0.64402	D	0.000002	T	0.46132	0.1377	M	0.73598	2.24	0.80722	D	1	D;D;D	0.62365	0.991;0.987;0.985	D;P;D	0.68039	0.94;0.875;0.955	T	0.49844	-0.8896	10	0.87932	D	0	-16.112	15.0634	0.71973	1.0:0.0:0.0:0.0	.	164;170;170	Q13322-4;Q13322-2;Q13322	.;.;GRB10_HUMAN	G	170;164;112;112;112;164;112;170;112;170;112	ENSP00000381793:V170G;ENSP00000406716:V164G;ENSP00000338543:V112G;ENSP00000381790:V112G;ENSP00000385189:V112G;ENSP00000385544:V164G;ENSP00000385366:V112G;ENSP00000349818:V170G;ENSP00000385046:V112G;ENSP00000385770:V170G;ENSP00000385748:V112G	ENSP00000338543:V112G	V	-	2	0	GRB10	50662165	1.000000	0.71417	0.992000	0.48379	0.987000	0.75469	9.339000	0.96797	1.961000	0.56991	0.533000	0.62120	GTT	GRB10-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000319155.3		-	ENST00000403097.1	Missense_Mutation	SNP	7 : 50694671 - 50694671 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1123	212
CHD8	57680	broad.mit.edu	37	14	21868399	21868399	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21868399G>A	ENST00000557364.1	-	24	4901	c.4638C>T	c.(4636-4638)atC>atT	p.I1546I	CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Silent_p.I1267I|CHD8_ENST00000399982.2_Silent_p.I1546I			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1546					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CTGCCTTATGGATATCAAAAG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	125	128			NA	NA	14		NA											NA				21868399		1847	4096	5943	SO:0001819	synonymous_variant			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888	57680	57680			20153	protein-coding gene	gene with protein product		610528	helicase with SNF2 domain 1	HELSNF1	NA	10997877	Standard	NM_020920	NM_020920	NA	Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.4638C>T	14.37:g.21868399G>A		NA	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	37	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	G	4.344	0.063266	0.08388	.	.	ENSG00000100888	ENST00000555935	.	.	.	5.21	2.41	0.29592	.	.	.	.	.	T	0.51736	0.1692	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38908	-0.9639	4	.	.	.	-9.7636	4.8474	0.13521	0.1622:0.0:0.5391:0.2987	.	.	.	.	S	780	.	.	P	-	1	0	CHD8	20938239	0.028000	0.19301	1.000000	0.80357	0.921000	0.55340	-0.831000	0.04405	0.353000	0.24079	-0.745000	0.03516	CCA	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410436.1		-	ENST00000557364.1	Silent	SNP	14 : 21868399 - 21868399 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	73
IL1RAPL1	11141	broad.mit.edu	37	X	29935582	29935582	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:29935582T>C	ENST00000378993.1	+	7	1453	c.780T>C	c.(778-780)ggT>ggC	p.G260G	IL1RAPL1_ENST00000302196.4_Splice_Site_p.G260G	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	260	Ig-like C2-type 3.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TCTCTGCAGGTGACTCTGCTA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	43	44			NA	NA	X		NA											NA				29935582		2202	4300	6502	SO:0001630	splice_region_variant			AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306	11141	11141		Interleukins and interleukin receptors, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	5996	protein-coding gene	gene with protein product		300206	mental retardation, X-linked 34, mental retardation, X-linked 21, mental retardation, X-linked 10	IL1RAPL, MRX34, MRX21, MRX10	NA	10471494, 10757639	Standard	NM_014271	NM_014271	NA	Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.779-1T>C	X.37:g.29935582T>C		NA	Q9UJ53	37	CCDS14218.1																																																																																			IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056155.1	Silent	+	ENST00000378993.1	Splice_Site	SNP	X : 29935582 - 29935582 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	137	33
PAIP1	10605	broad.mit.edu	37	5	43533874	43533874	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43533874T>C	ENST00000306846.3	-	9	1450	c.1218A>G	c.(1216-1218)acA>acG	p.T406T	PAIP1_ENST00000514514.1_Silent_p.T327T|PAIP1_ENST00000338972.4_Silent_p.T294T|PAIP1_ENST00000436644.2_Silent_p.T327T	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	406					mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					CACCATCAGATGTATAAAATG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	155	154			NA	NA	5		NA											NA				43533874		2203	4300	6503	SO:0001819	synonymous_variant			AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239	10605	10605			16945	protein-coding gene	gene with protein product		605184			NA	9548260, 11230166	Standard	NM_006451	NM_006451	NA	Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.1218A>G	5.37:g.43533874T>C		NA	O60455|Q96B61|Q9BS63	37	CCDS3947.1																																																																																			PAIP1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214024.1		-	ENST00000306846.3	Silent	SNP	5 : 43533874 - 43533874 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	620	113
KCNK6	9424	broad.mit.edu	37	19	38817988	38817988	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38817988C>T	ENST00000263372.3	+	3	994	c.887C>T	c.(886-888)tCg>tTg	p.S296L		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	296						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CAGCCGGAGTCGCACCAGCAA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	55	55			NA	NA	19		NA											NA				38817988		2203	4300	6503	SO:0001583	missense			AF117708	CCDS12513.1	19q13.1	2012-03-07				ENSG00000099337	9424	9424		Potassium channels, Voltage-gated ion channels / Potassium channels, Two-P	6281	protein-coding gene	gene with protein product		603939			NA	10075682, 10393428, 16382106	Standard	NM_004823	NM_004823	NA	Approved	K2p6.1, TWIK-2	uc002oic.3	Q9Y257		ENST00000263372.3:c.887C>T	19.37:g.38817988C>T	ENSP00000263372:p.Ser296Leu	NA	Q9HB47	37	CCDS12513.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.852002	0.32699	.	.	ENSG00000099337	ENST00000263372	T	0.22134	1.97	5.36	-0.937	0.10415	.	0.876074	0.10064	N	0.720521	T	0.07548	0.0190	N	0.03115	-0.41	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.36187	-0.9758	10	0.28530	T	0.3	.	4.6572	0.12624	0.1452:0.4607:0.0:0.3941	.	296	Q9Y257	KCNK6_HUMAN	L	296	ENSP00000263372:S296L	ENSP00000263372:S296L	S	+	2	0	KCNK6	43509828	0.000000	0.05858	0.005000	0.12908	0.026000	0.11368	0.128000	0.15810	0.139000	0.18822	-0.219000	0.12488	TCG	KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460524.1		+	ENST00000263372.3	Missense_Mutation	SNP	19 : 38817988 - 38817988 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	406	11
ANKS1A	23294	broad.mit.edu	37	6	34935091	34935091	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34935091C>T	ENST00000360359.3	+	2	411	c.273C>T	c.(271-273)ggC>ggT	p.G91G	ANKS1A_ENST00000535627.1_Silent_p.G91G	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	91						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTTTGAATGGCCATAAGTAAG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													241	204	217			NA	NA	6		NA											NA				34935091		2203	4300	6503	SO:0001819	synonymous_variant			D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999	23294	23294		Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	20961	protein-coding gene	gene with protein product		608994	ankyrin repeat and SAM domain containing 1, ankyrin repeat and sterile alpha motif domain containing 1	ANKS1	NA	9039502	Standard	XM_166478	NM_015245	NA	Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.273C>T	6.37:g.34935091C>T		NA	A2RUC1|Q5JYI9|Q5SYR2|Q86WQ7	37	CCDS4798.1																																																																																			ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040262.1		+	ENST00000360359.3	Silent	SNP	6 : 34935091 - 34935091 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	423	61
DEAF1	10522	broad.mit.edu	37	11	688045	688045	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:688045G>T	ENST00000382409.3	-	4	1014	c.530C>A	c.(529-531)cCt>cAt	p.P177H	DEAF1_ENST00000338675.6_Missense_Mutation_p.P177H	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	177					embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		AGGGGTTGGAGGAGACTGAGG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	57	54			NA	NA	11		NA											NA				688045		2203	4300	6503	SO:0001583	missense			AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030	10522	10522		Zinc fingers, MYND-type	14677	protein-coding gene	gene with protein product		602635	deformed epidermal autoregulatory factor 1 (Drosophila)		NA	9773984	Standard	NM_021008	XR_428838	NA	Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.530C>A	11.37:g.688045G>T	ENSP00000371846:p.Pro177His	NA	A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	37	CCDS31327.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742636	0.89573	.	.	ENSG00000177030	ENST00000382409;ENST00000338675;ENST00000359958;ENST00000388804	T	0.68624	-0.34	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.69342	0.3100	L	0.27053	0.805	0.44780	D	0.997786	D	0.71674	0.998	P	0.60173	0.87	T	0.74176	-0.3750	10	0.87932	D	0	-12.841	15.6697	0.77264	0.0:0.0:1.0:0.0	.	177	O75398	DEAF1_HUMAN	H	177;177;163;100	ENSP00000371846:P177H	ENSP00000341902:P177H	P	-	2	0	DEAF1	678045	1.000000	0.71417	0.992000	0.48379	0.957000	0.61999	9.261000	0.95576	2.349000	0.79799	0.655000	0.94253	CCT	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383614.3		-	ENST00000382409.3	Missense_Mutation	SNP	11 : 688045 - 688045 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	20
KBTBD8	84541	broad.mit.edu	37	3	67058487	67058487	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:67058487G>A	ENST00000417314.2	+	4	1533	c.1484G>A	c.(1483-1485)cGt>cAt	p.R495H	KBTBD8_ENST00000295568.4_Missense_Mutation_p.R469H|KBTBD8_ENST00000460576.1_Missense_Mutation_p.R53H			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	495										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AATCATCAACGTATGTTTACT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	124	123			NA	NA	3		NA											NA				67058487		2203	4300	6503	SO:0001583	missense			AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376	84541	84541		BTB/POZ domain containing	30691	protein-coding gene	gene with protein product	T-cell activation kelch repeat protein				NA	11347906	Standard	NM_032505	NM_032505	NA	Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1484G>A	3.37:g.67058487G>A	ENSP00000401878:p.Arg495His	NA	Q96JI5	37	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684935	0.47991	.	.	ENSG00000163376	ENST00000295568;ENST00000460576;ENST00000417314	T;T;T	0.78481	-1.18;-1.18;-1.18	5.47	5.47	0.80525	Kelch-type beta propeller (1);	0.735555	0.13839	N	0.359220	D	0.86251	0.5888	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.991;0.997	T	0.80030	-0.1553	10	0.11182	T	0.66	.	19.3339	0.94307	0.0:0.0:1.0:0.0	.	53;495	B4DTW6;Q8NFY9	.;KBTB8_HUMAN	H	469;53;495	ENSP00000295568:R469H;ENSP00000419738:R53H;ENSP00000401878:R495H	ENSP00000295568:R469H	R	+	2	0	KBTBD8	67141177	1.000000	0.71417	0.766000	0.31476	0.950000	0.60333	9.869000	0.99810	2.575000	0.86900	0.650000	0.86243	CGT	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352189.1		+	ENST00000417314.2	Missense_Mutation	SNP	3 : 67058487 - 67058487 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	582	96
NUP210L	91181	broad.mit.edu	37	1	153991470	153991470	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153991470C>A	ENST00000368559.3	-	33	4663	c.4592G>T	c.(4591-4593)aGg>aTg	p.R1531M	NUP210L_ENST00000368553.1_Missense_Mutation_p.R464M|NUP210L_ENST00000271854.3_Missense_Mutation_p.R1531M	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1531						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CCCCGGACTCCTGGCCACTCC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	87	88			NA	NA	1		NA											NA				153991470		1884	4123	6007	SO:0001583	missense			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552	91181	91181			29915	protein-coding gene	gene with protein product					NA		Standard	NM_207308	NM_207308	NA	Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.4592G>T	1.37:g.153991470C>A	ENSP00000357547:p.Arg1531Met	NA	Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6	37	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372609	0.82573	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.25579	3.4;1.79;3.13	5.61	5.61	0.85477	.	0.084000	0.48286	D	0.000199	T	0.30510	0.0767	M	0.69358	2.11	0.36448	D	0.865884	D;D	0.76494	0.999;0.999	P;P	0.61328	0.862;0.887	T	0.11372	-1.0590	10	0.33940	T	0.23	-6.8879	9.0841	0.36570	0.0:0.8717:0.0:0.1283	.	1531;1531	E7EP56;Q5VU65	.;P210L_HUMAN	M	1531;464;1531	ENSP00000357547:R1531M;ENSP00000357541:R464M;ENSP00000271854:R1531M	ENSP00000271854:R1531M	R	-	2	0	NUP210L	152258094	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.903000	0.39858	2.631000	0.89168	0.655000	0.94253	AGG	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087270.3		-	ENST00000368559.3	Missense_Mutation	SNP	1 : 153991470 - 153991470 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	460	80
FER	2241	broad.mit.edu	37	5	108281903	108281903	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108281903T>G	ENST00000281092.4	+	11	1693	c.1309T>G	c.(1309-1311)Tct>Gct	p.S437A	FER_ENST00000536402.1_3'UTR|FER_ENST00000438717.2_Missense_Mutation_p.S262A	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	437					intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GTCTCCAAAATCTGCACTGGG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(146;1051 1799 9836 27344 47401)							NA				0													117	123	121			NA	NA	5		NA											NA				108281903		2202	4300	6502	SO:0001583	missense			J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2241	2241	2.7.10.1	Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, SH2 domain containing	3655	protein-coding gene	gene with protein product	phosphoprotein NCP94, protein phosphatase 1, regulatory subunit 74	176942			NA		Standard	NM_005246	NM_005246	NA	Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.1309T>G	5.37:g.108281903T>G	ENSP00000281092:p.Ser437Ala	NA	B2RCR4|B4DSQ2	37	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	T	8.595	0.885594	0.17540	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	T;T	0.74737	-0.87;-0.87	5.45	5.45	0.79879	.	0.152771	0.64402	D	0.000011	T	0.74238	0.3690	M	0.70595	2.14	0.42790	D	0.993896	B	0.06786	0.001	B	0.04013	0.001	T	0.72043	-0.4409	10	0.51188	T	0.08	-12.5668	15.7979	0.78424	0.0:0.0:0.0:1.0	.	437	P16591	FER_HUMAN	A	437;262	ENSP00000281092:S437A;ENSP00000394297:S262A	ENSP00000281092:S437A	S	+	1	0	FER	108309802	1.000000	0.71417	0.989000	0.46669	0.655000	0.38815	3.468000	0.53086	2.196000	0.70406	0.402000	0.26972	TCT	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250664.1		+	ENST00000281092.4	Missense_Mutation	SNP	5 : 108281903 - 108281903 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	595	114
NXPE3	91775	broad.mit.edu	37	3	101520807	101520807	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101520807C>T	ENST00000491511.2	+	5	1778	c.822C>T	c.(820-822)acC>acT	p.T274T	NXPE3_ENST00000273347.5_Silent_p.T274T|NXPE3_ENST00000477909.1_Silent_p.T274T|NXPE3_ENST00000422132.1_Silent_p.T274T	NM_001134456.1	NP_001127928.1			neurexophilin and PC-esterase domain family, member 3	NA											NA						GTCTCCTAACCGCTGCAGAGA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	96	94			NA	NA	3		NA											NA				101520807		2198	4298	6496	SO:0001819	synonymous_variant			AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815	91775	91775			28238	protein-coding gene	gene with protein product			family with sequence similarity 55, member C	FAM55C	NA	12975309	Standard	NM_145037	NM_001134456	NA	Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.822C>T	3.37:g.101520807C>T		NA		37	CCDS2945.1																																																																																			NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353711.2		+	ENST00000491511.2	Silent	SNP	3 : 101520807 - 101520807 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	735	129
UXS1	80146	broad.mit.edu	37	2	106739525	106739525	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106739525A>G	ENST00000283148.7	-	9	757	c.660T>C	c.(658-660)agT>agC	p.S220S	UXS1_ENST00000540130.1_Silent_p.S158S|UXS1_ENST00000428048.2_Silent_p.S59S|UXS1_ENST00000409501.3_Silent_p.S215S|UXS1_ENST00000409032.1_Silent_p.S47S	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	215					cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						AGTAATCCTCACTTTGAGGGT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	119	120			NA	NA	2		NA											NA				106739525		1939	4131	6070	SO:0001819	synonymous_variant			AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	80146	80146	4.1.1.35	Short chain dehydrogenase/reductase superfamily / Extended SDR fold	17729	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 6E, member 12	609749			NA	19027726	Standard	NM_025076.3	NM_001253875	NA	Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000283148.7:c.660T>C	2.37:g.106739525A>G		NA	Q8NBX3|Q9H5C2	37	CCDS58721.1																																																																																			UXS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329776.1		-	ENST00000283148.7	Silent	SNP	2 : 106739525 - 106739525 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	481	91
SH2D3A	10045	broad.mit.edu	37	19	6754423	6754423	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6754423C>T	ENST00000245908.6	-	7	1380	c.1111G>A	c.(1111-1113)Gcg>Acg	p.A371T	SH2D3A_ENST00000437152.3_Missense_Mutation_p.A249T	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	371					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						CCGGCCAGCGCCAGTGTCTGA	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													6	7	7			NA	NA	19		NA											NA				6754423		1889	3802	5691	SO:0001583	missense			AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731	10045	10045		SH2 domain containing	16885	protein-coding gene	gene with protein product		604721	SH2 domain-containing 3A		NA	10187783	Standard	NM_005490	NM_005490	NA	Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.1111G>A	19.37:g.6754423C>T	ENSP00000245908:p.Ala371Thr	NA	A8K9R6|Q9Y2X4	37	CCDS12173.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.770126	0.31320	.	.	ENSG00000125731	ENST00000245908;ENST00000437152	T;T	0.28069	1.63;1.63	4.9	-0.11	0.13580	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.664405	0.13120	N	0.412262	T	0.22244	0.0536	L	0.46741	1.465	0.24090	N	0.995915	B;B	0.18166	0.026;0.001	B;B	0.17433	0.018;0.011	T	0.24261	-1.0165	10	0.54805	T	0.06	-4.4563	3.4267	0.07413	0.4298:0.3462:0.14:0.084	.	249;371	B4DRS7;Q9BRG2	.;SH23A_HUMAN	T	371;249	ENSP00000245908:A371T;ENSP00000393303:A249T	ENSP00000245908:A371T	A	-	1	0	SH2D3A	6705423	0.196000	0.23350	0.357000	0.25798	0.351000	0.29236	-0.189000	0.09629	-0.162000	0.10964	-0.448000	0.05591	GCG	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458016.1		-	ENST00000245908.6	Missense_Mutation	SNP	19 : 6754423 - 6754423 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	101	16
PTX4	390667	broad.mit.edu	37	16	1537406	1537406	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1537406G>A	ENST00000447419.2	-	2	732	c.707C>T	c.(706-708)cCt>cTt	p.P236L	PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Missense_Mutation_p.P231L			Q96A99	PTX4_HUMAN	pentraxin 4, long	236						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TGAGGCTGGAGGCTCCCGCCT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	34	32			NA	NA	16		NA											NA				1537406		2199	4297	6496	SO:0001583	missense				CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692	390667	390667			14171	protein-coding gene	gene with protein product		613442	chromosome 16 open reading frame 38	C16orf38	NA		Standard	NM_001013658	NM_001013658	NA	Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.707C>T	16.37:g.1537406G>A	ENSP00000445277:p.Pro236Leu	NA		37		.	.	.	.	.	.	.	.	.	.	G	14.09	2.431251	0.43122	.	.	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.05199	3.62;3.48	5.15	-0.739	0.11120	.	3.081050	0.00877	N	0.002089	T	0.11495	0.0280	L	0.48642	1.525	0.09310	N	1	D	0.58970	0.984	P	0.55161	0.77	T	0.19224	-1.0312	10	0.25751	T	0.34	.	2.4394	0.04490	0.1607:0.2717:0.4279:0.1397	.	231	Q96A99-2	.	L	236;231	ENSP00000445277:P236L;ENSP00000293922:P231L	ENSP00000293922:P231L	P	-	2	0	PTX4	1477407	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.037000	0.12164	-0.241000	0.09681	-0.165000	0.13383	CCT	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000432526.1		-	ENST00000447419.2	Missense_Mutation	SNP	16 : 1537406 - 1537406 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	409	78
NDUFAF7	55471	broad.mit.edu	37	2	37464951	37464951	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37464951G>T	ENST00000002125.4	+	4	389	c.349G>T	c.(349-351)Gct>Tct	p.A117S	NDUFAF7_ENST00000483999.1_3'UTR|NDUFAF7_ENST00000336237.6_Missense_Mutation_p.A90S	NM_144736.4	NP_653337.1			NADH dehydrogenase (ubiquinone) complex I, assembly factor 7	NA											NA						AAAAAGCACAGCTTTCCAGCT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	63	59			NA	NA	2		NA											NA				37464951		2203	4300	6503	SO:0001583	missense				CCDS1788.1, CCDS42673.1	2p22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000003509	ENSG00000003509	55471	55471		Mitochondrial respiratory chain complex assembly factors	28816	protein-coding gene	gene with protein product	mitochondrial dysfunction protein A homolog	615898	chromosome 2 open reading frame 56	C2orf56	NA		Standard	NM_144736	NM_144736	NA	Approved	PRO1853, MidA	uc002rqa.4	Q7L592	OTTHUMG00000128468	ENST00000002125.4:c.349G>T	2.37:g.37464951G>T	ENSP00000002125:p.Ala117Ser	NA		37	CCDS1788.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.951916	0.34471	.	.	ENSG00000003509	ENST00000002125;ENST00000336237;ENST00000431821;ENST00000416653;ENST00000439218;ENST00000432075	T;T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95;-0.95	5.84	1.6	0.23607	.	0.402717	0.28156	N	0.016390	T	0.52709	0.1751	N	0.20357	0.565	0.09310	N	1	B;B;B;B	0.20459	0.005;0.045;0.037;0.005	B;B;B;B	0.24848	0.012;0.056;0.033;0.019	T	0.29243	-1.0018	10	0.18276	T	0.48	-11.7246	5.0397	0.14452	0.4036:0.0:0.4579:0.1386	.	90;117;90;117	E7EUC2;B4DQY3;Q7L592-2;Q7L592	.;.;.;MIDA_HUMAN	S	117;90;38;75;75;75	ENSP00000002125:A117S;ENSP00000337431:A90S;ENSP00000399207:A38S;ENSP00000410181:A75S;ENSP00000394436:A75S;ENSP00000402959:A75S	ENSP00000002125:A117S	A	+	1	0	C2orf56	37318455	0.016000	0.18221	0.867000	0.34043	0.922000	0.55478	0.585000	0.23879	0.389000	0.25086	0.655000	0.94253	GCT	NDUFAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250267.1		+	ENST00000002125.4	Missense_Mutation	SNP	2 : 37464951 - 37464951 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	325	60
SLC35F6	54978	broad.mit.edu	37	2	26999265	26999265	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26999265G>T	ENST00000344420.5	+	5	623	c.561G>T	c.(559-561)caG>caT	p.Q187H	SLC35F6_ENST00000416475.2_Missense_Mutation_p.Q104H|SLC35F6_ENST00000482746.1_Intron|CENPA_ENST00000475662.1_Intron	NM_017877.3	NP_060347.2			solute carrier family 35, member F6	NA											NA						TCATGGCCCAGATCATCGTTG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	94	102			NA	NA	2		NA											NA				26999265		2203	4300	6503	SO:0001583	missense			AK075164	CCDS1728.1	2p24.1	2012-12-13	2012-12-07	2012-12-07	ENSG00000213699	ENSG00000213699	54978	54978			26055	protein-coding gene	gene with protein product	ANT2-binding protein, transport and golgi organization 9 homolog (Drosophila)		chromosome 2 open reading frame 18	C2orf18	NA	15911612, 19154410	Standard	NM_017877	NM_017877	NA	Approved	FLJ20555, ANT2BP, TANGO9	uc002rhp.1	Q8N357	OTTHUMG00000128407	ENST00000344420.5:c.561G>T	2.37:g.26999265G>T	ENSP00000345528:p.Gln187His	NA		37	CCDS1728.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299274	0.81136	.	.	ENSG00000213699	ENST00000344420;ENST00000416475	.	.	.	5.12	4.24	0.50183	.	0.111106	0.64402	D	0.000006	D	0.84871	0.5568	H	0.94964	3.605	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.73708	0.975;0.981	D	0.87155	0.2211	9	0.45353	T	0.12	.	12.7857	0.57504	0.0819:0.0:0.9181:0.0	.	104;187	B4DLH2;Q8N357	.;CB018_HUMAN	H	187;104	.	ENSP00000345528:Q187H	Q	+	3	2	C2orf18	26852769	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.896000	0.63222	2.395000	0.81488	0.561000	0.74099	CAG	SLC35F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250187.2		+	ENST00000344420.5	Missense_Mutation	SNP	2 : 26999265 - 26999265 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	392	93
GPR98	84059	broad.mit.edu	37	5	90106690	90106690	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:90106690C>T	ENST00000405460.2	+	74	15709	c.15613C>T	c.(15613-15615)Cct>Tct	p.P5205S	GPR98_ENST00000425867.2_Missense_Mutation_p.P866S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5205					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTCTGAAAAGCCTGATGTGGC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	79	79			NA	NA	5		NA											NA				90106690		1964	4184	6148	SO:0001583	missense			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199	84059	84059		-, GPCR / Class B : Orphans	17416	protein-coding gene	gene with protein product		602851	monogenic, audiogenic seizure susceptibility 1 homolog (mouse)	USH2C, MASS1	NA	10976914, 14740321	Standard	NM_032119	NM_032119	NA	Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.15613C>T	5.37:g.90106690C>T	ENSP00000384582:p.Pro5205Ser	NA	O75171|Q8TF58|Q9H0X5|Q9UL61	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	9.108	1.005721	0.19199	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.27256	1.71;1.68	5.01	4.08	0.47627	.	0.000000	0.49305	D	0.000150	T	0.25005	0.0607	L	0.51422	1.61	0.29785	N	0.833667	P;B;P	0.40180	0.58;0.118;0.705	B;B;B	0.41510	0.196;0.026;0.359	T	0.09465	-1.0673	9	.	.	.	.	10.1779	0.42950	0.1985:0.8015:0.0:0.0	.	866;5205;866	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	S	5205;5205;866	ENSP00000384582:P5205S;ENSP00000392618:P866S	.	P	+	1	0	GPR98	90142446	0.998000	0.40836	0.993000	0.49108	0.798000	0.45092	1.080000	0.30779	2.504000	0.84457	0.563000	0.77884	CCT	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369993.2		+	ENST00000405460.2	Missense_Mutation	SNP	5 : 90106690 - 90106690 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	96
TMEM179	388021	broad.mit.edu	37	14	105063451	105063451	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105063451C>T	ENST00000341595.3	-	2	1224	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	TMEM179_ENST00000556573.1_Missense_Mutation_p.A107T	NM_207379.1	NP_997262.1	Q6ZVK1	T179A_HUMAN	transmembrane protein 179	107						integral to membrane				endometrium(1)|lung(2)|skin(1)	4			all cancers(16;0.00276)|OV - Ovarian serous cystadenocarcinoma(23;0.0262)|Epithelial(46;0.058)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.129)		TTCAGGAAGGCGGAGAAGAAG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	45	53			NA	NA	14		NA											NA				105063451		2199	4296	6495	SO:0001583	missense			AK124477	CCDS66723.1, CCDS73688.1	14q32.33	2012-04-11	2006-10-16	2006-10-16	ENSG00000258986	ENSG00000258986	388021	388021			20137	protein-coding gene	gene with protein product			chromosome 14 open reading frame 90	C14orf90	NA		Standard	NM_207379	NM_001286390	NA	Approved	FLJ42486, TMEM179A	uc001yox.1	Q6ZVK1	OTTHUMG00000170829	ENST00000341595.3:c.319G>A	14.37:g.105063451C>T	ENSP00000340477:p.Ala107Thr	NA		37	CCDS9988.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326812	0.41197	.	.	ENSG00000189203;ENSG00000258986;ENSG00000258986	ENST00000415614;ENST00000556573;ENST00000341595	T;T;T	0.17054	2.3;2.3;2.3	3.45	2.46	0.29980	.	0.444482	0.23160	N	0.051254	T	0.15825	0.0381	L	0.52126	1.63	0.42111	D	0.991384	P	0.52170	0.951	B	0.40134	0.32	T	0.13361	-1.0512	10	0.51188	T	0.08	.	12.3378	0.55077	0.1687:0.8313:0.0:0.0	.	107	Q6ZVK1-2	.	T	107	ENSP00000397763:A107T;ENSP00000450958:A107T;ENSP00000340477:A107T	ENSP00000340477:A107T	A	-	1	0	RP11-614O9.3;TMEM179	104134496	0.996000	0.38824	0.841000	0.33234	0.539000	0.34962	3.407000	0.52644	1.640000	0.50565	0.442000	0.29010	GCC	TMEM179-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410586.1		-	ENST00000341595.3	Missense_Mutation	SNP	14 : 105063451 - 105063451 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	53	16
SLC35F1	222553	broad.mit.edu	37	6	118475773	118475773	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:118475773C>T	ENST00000360388.4	+	2	540	c.339C>T	c.(337-339)gcC>gcT	p.A113A		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	113					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CCACACTAGCCGTCAGACAAG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	144	145			NA	NA	6		NA											NA				118475773		2203	4300	6503	SO:0001819	synonymous_variant			BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376	222553	222553		Solute carriers	21483	protein-coding gene	gene with protein product			chromosome 6 open reading frame 169	C6orf169	NA		Standard	XM_167044	NM_001029858	NA	Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.339C>T	6.37:g.118475773C>T		NA	E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	37	CCDS34524.1																																																																																			SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041991.2		+	ENST00000360388.4	Silent	SNP	6 : 118475773 - 118475773 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	761	126
NSG2	0	broad.mit.edu	37	5	173473797	173473797	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:173473797C>T	ENST00000303177.3	+	2	301	c.39C>T	c.(37-39)acC>acT	p.T13T	NSG2_ENST00000521585.1_Silent_p.T13T	NM_015980.4	NP_057064.1				NA											NA						AGAAGGGAACCAAGCCGCCTT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													212	190	198			NA	NA	5		NA											NA				173473797		2203	4300	6503	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000303177.3:c.39C>T	5.37:g.173473797C>T		NA		37	CCDS4391.1																																																																																			NSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252966.2		+	ENST00000303177.3	Silent	SNP	5 : 173473797 - 173473797 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	890	62
TEX11	56159	broad.mit.edu	37	X	69749792	69749792	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69749792C>T	ENST00000395889.2	-	30	2778	c.2623G>A	c.(2623-2625)Gta>Ata	p.V875I	TEX11_ENST00000374320.2_Missense_Mutation_p.V550I|TEX11_ENST00000374333.2_Missense_Mutation_p.V860I|TEX11_ENST00000344304.3_Missense_Mutation_p.V875I	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	875							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AACATAAGTACTCCGGTATTC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	97	106			NA	NA	X		NA											NA				69749792		2203	4300	6503	SO:0001583	missense			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498	NA	56159			11733	protein-coding gene	gene with protein product		300311	testis expressed sequence 11		NA	11279525	Standard		NM_001003811	NA	Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.2623G>A	X.37:g.69749792C>T	ENSP00000379226:p.Val875Ile	NA	A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	37	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.621150	0.00820	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.38887	1.7;1.69;1.11;1.69	4.33	1.86	0.25419	.	0.228496	0.32533	N	0.005965	T	0.10337	0.0253	N	0.00471	-1.455	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.31806	-0.9930	9	.	.	.	-9.7909	5.8574	0.18727	0.0:0.3422:0.0:0.6578	.	860;875	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	I	860;875;550;875	ENSP00000363453:V860I;ENSP00000379226:V875I;ENSP00000363440:V550I;ENSP00000340995:V875I	.	V	-	1	0	TEX11	69666517	1.000000	0.71417	0.457000	0.27056	0.563000	0.35712	1.370000	0.34238	0.541000	0.28827	-0.428000	0.05917	GTA	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359072.1		-	ENST00000395889.2	Missense_Mutation	SNP	X : 69749792 - 69749792 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	113
EXD3	54932	broad.mit.edu	37	9	140201415	140201415	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140201415C>T	ENST00000340951.4	-	22	2813	c.2618G>A	c.(2617-2619)aGc>aAc	p.S873N	EXD3_ENST00000342129.4_Missense_Mutation_p.S511N	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	873					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						GAAGGGACTGCTGGCCGGGCT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	21	20			NA	NA	9		NA											NA				140201415		1901	4097	5998	SO:0001583	missense				CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609	54932	54932			26023	protein-coding gene	gene with protein product					NA		Standard	NM_017820	XM_005266093	NA	Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.2618G>A	9.37:g.140201415C>T	ENSP00000340474:p.Ser873Asn	NA	B8A4U7|C9JIQ9|Q2TAK4|Q8N3X4|Q8NHD1|Q96NP1	37	CCDS48066.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.346028	0.41599	.	.	ENSG00000187609	ENST00000342129;ENST00000340951	T;T	0.66815	-0.23;0.66	2.84	2.84	0.33178	.	.	.	.	.	T	0.51483	0.1677	L	0.29908	0.895	0.09310	N	1	P;P	0.46912	0.886;0.818	B;B	0.41174	0.349;0.257	T	0.32640	-0.9899	9	0.27082	T	0.32	.	9.2217	0.37382	0.0:1.0:0.0:0.0	.	511;873	Q8N9H8-3;Q8N9H8	.;MUT7_HUMAN	N	511;873	ENSP00000343705:S511N;ENSP00000340474:S873N	ENSP00000340474:S873N	S	-	2	0	EXD3	139321236	0.000000	0.05858	0.019000	0.16419	0.185000	0.23345	0.565000	0.23578	1.576000	0.49790	0.491000	0.48974	AGC	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343182.1		-	ENST00000340951.4	Missense_Mutation	SNP	9 : 140201415 - 140201415 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	211	34
ADHFE1	137872	broad.mit.edu	37	8	67369306	67369306	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67369306C>T	ENST00000396623.3	+	12	1098	c.1067C>T	c.(1066-1068)cCc>cTc	p.P356L	ADHFE1_ENST00000415254.1_Splice_Site_p.P308L|ADHFE1_ENST00000496501.1_3'UTR	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	356					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TCTCCCCAGCCCCATGGCCTT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	160	165			NA	NA	8		NA											NA				67369306		2203	4300	6503	SO:0001630	splice_region_variant			AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	137872	137872	1.1.99.24	Alcohol dehydrogenases	16354	protein-coding gene	gene with protein product	hydroxyacid-oxoacid transhydrogenase	611083			NA	12592711	Standard	NM_144650	NM_144650	NA	Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.1066-1C>T	8.37:g.67369306C>T		NA	B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	37	CCDS6190.2	.	.	.	.	.	.	.	.	.	.	C	34	5.403705	0.96051	.	.	ENSG00000147576	ENST00000396623;ENST00000415254	T;T	0.52057	0.68;0.68	5.83	5.83	0.93111	Alcohol dehydrogenase, iron-type (1);	0.000000	0.85682	D	0.000000	T	0.81602	0.4857	H	0.98314	4.2	0.80722	D	1	D	0.59357	0.985	D	0.64506	0.926	D	0.88264	0.2925	10	0.87932	D	0	-10.1005	20.1084	0.97900	0.0:1.0:0.0:0.0	.	356	Q8IWW8	HOT_HUMAN	L	356;308	ENSP00000379865:P356L;ENSP00000407115:P308L	ENSP00000379865:P356L	P	+	2	0	ADHFE1	67531860	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.690000	0.84178	2.752000	0.94435	0.563000	0.77884	CCC	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316867.3	Missense_Mutation	+	ENST00000396623.3	Splice_Site	SNP	8 : 67369306 - 67369306 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	954	32
PARP14	54625	broad.mit.edu	37	3	122446723	122446723	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122446723C>T	ENST00000474629.2	+	16	5272	c.5006C>T	c.(5005-5007)gCc>gTc	p.A1669V		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1669	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		ACTATGGATGCCAAGAATGGC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	63	62			NA	NA	3		NA											NA				122446723		1909	4128	6037	SO:0001583	missense			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193	54625	54625		Poly (ADP-ribose) polymerases	29232	protein-coding gene	gene with protein product		610028			NA	15273990	Standard	NM_017554	NM_017554	NA	Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.5006C>T	3.37:g.122446723C>T	ENSP00000418194:p.Ala1669Val	NA	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	37	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.160607	0.38119	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000398157	T	0.10477	2.87	5.69	0.605	0.17553	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.769194	0.11796	N	0.528684	T	0.09423	0.0232	L	0.60845	1.875	0.09310	N	1	P	0.36183	0.542	B	0.24006	0.05	T	0.20672	-1.0268	10	0.30078	T	0.28	.	10.1445	0.42755	0.6142:0.3129:0.0:0.0729	.	1669	Q460N5	PAR14_HUMAN	V	1669;1588;665	ENSP00000418194:A1669V	ENSP00000381224:A665V	A	+	2	0	PARP14	123929413	0.000000	0.05858	0.997000	0.53966	0.990000	0.78478	-1.492000	0.02300	0.159000	0.19401	0.655000	0.94253	GCC	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356173.2		+	ENST00000474629.2	Missense_Mutation	SNP	3 : 122446723 - 122446723 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	162	38
NCOR1	9611	broad.mit.edu	37	17	15989758	15989758	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15989758T>G	ENST00000268712.3	-	23	3274		c.e23-2		NCOR1_ENST00000395851.1_Splice_Site	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	NA					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCTGAAGGACTTTTAAAAGGA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	59	59			NA	NA	17		NA											NA				15989758		2203	4300	6503	SO:0001630	splice_region_variant			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027	9611	9611			7672	protein-coding gene	gene with protein product	thyroid hormone- and retinoic acid receptor-associated corepressor 1, protein phosphatase 1, regulatory subunit 109	600849	nuclear receptor co-repressor 1		NA	7566114, 9724795	Standard	NM_006311	NM_006311	NA	Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.3017-2A>C	17.37:g.15989758T>G		NA	B3DLF8|Q9UPV5|Q9UQ18	37	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	T	18.58	3.654394	0.67472	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000436068	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1246	0.65213	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NCOR1	15930483	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	6.235000	0.72332	2.272000	0.75746	0.524000	0.50904	.	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131751.5	Intron	-	ENST00000268712.3	Splice_Site	SNP	17 : 15989758 - 15989758 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	230	32
PRAM1	84106	broad.mit.edu	37	19	8564513	8564513	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8564513G>A	ENST00000423345.4	-	2	699	c.179C>T	c.(178-180)cCg>cTg	p.P60L	PRAM1_ENST00000255612.3_Missense_Mutation_p.P60L			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	60	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CTCAGGCAGCGGGGCCTTCTT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	LEU/PRO	5,3901		0,5,1948	59	70	66		179	-0.8	0	19		66	0,8268		0,0,4134	yes	missense	PRAM1	NM_032152.4	98	0,5,6082	AA,AG,GG	NA	0.0,0.128,0.0411	benign	60/671	8564513	5,12169	1953	4134	6087	SO:0001583	missense			BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246	84106	84106			30091	protein-coding gene	gene with protein product		606466			NA	11301322, 15572693	Standard	NM_032152	NM_032152	NA	Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.179C>T	19.37:g.8564513G>A	ENSP00000408342:p.Pro60Leu	NA	Q8N6W7	37	CCDS45954.2	.	.	.	.	.	.	.	.	.	.	G	9.934	1.215607	0.22373	0.00128	0.0	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.14391	2.51;2.51	4.17	-0.841	0.10752	.	.	.	.	.	T	0.10594	0.0259	L	0.59436	1.845	0.09310	N	1	B;B	0.26041	0.14;0.064	B;B	0.17098	0.017;0.017	T	0.34527	-0.9825	9	0.25106	T	0.35	.	2.9996	0.06009	0.218:0.0:0.4054:0.3766	.	60;60	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	L	60	ENSP00000255612:P60L;ENSP00000408342:P60L	ENSP00000255612:P60L	P	-	2	0	PRAM1	8470513	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.412000	0.07132	-0.014000	0.14175	-0.218000	0.12543	CCG	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397040.3		-	ENST00000423345.4	Missense_Mutation	SNP	19 : 8564513 - 8564513 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	685	133
APBB3	10307	broad.mit.edu	37	5	139943436	139943436	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139943436G>A	ENST00000511201.2	-	2	113	c.114C>T	c.(112-114)atC>atT	p.I38I	APBB3_ENST00000507279.1_5'UTR|APBB3_ENST00000412920.3_Silent_p.I38I|APBB3_ENST00000357560.4_Silent_p.I38I|APBB3_ENST00000358580.5_Silent_p.I38I|APBB3_ENST00000354402.5_Silent_p.I38I|APBB3_ENST00000508496.2_5'UTR|APBB3_ENST00000356738.2_Silent_p.I38I			O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	38	WW.					actin cytoskeleton|cytoplasm				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCATCGTGGATCTTCCTCC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	79	81			NA	NA	5		NA											NA				139943436		2203	4300	6503	SO:0001819	synonymous_variant			AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108	10307	10307			20708	protein-coding gene	gene with protein product		602711			NA	9407065	Standard	NM_006051	NM_133172	NA	Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000511201.2:c.114C>T	5.37:g.139943436G>A		NA	B3KQN9|Q08AG4|Q9NYX6|Q9NYX7|Q9NYX8	37																																																																																				APBB3-012	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000373246.2		-	ENST00000511201.2	Silent	SNP	5 : 139943436 - 139943436 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	262	49
MAMDC2	256691	broad.mit.edu	37	9	72741317	72741317	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72741317C>T	ENST00000377182.4	+	6	1503	c.886C>T	c.(886-888)Cct>Tct	p.P296S	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	296	MAM 2.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						GTTCAGTGCTCCTTACCCCAT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	55	63			NA	NA	9		NA											NA				72741317		2203	4300	6503	SO:0001583	missense			BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072	256691	256691			23673	protein-coding gene	gene with protein product		612879			NA		Standard	NM_153267	NM_153267	NA	Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.886C>T	9.37:g.72741317C>T	ENSP00000366387:p.Pro296Ser	NA	Q5VW47|Q8WX43|Q96BM4	37	CCDS6631.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497224	0.85069	.	.	ENSG00000165072	ENST00000377182	T	0.01918	4.56	6.04	6.04	0.98038	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.047761	0.85682	D	0.000000	T	0.09730	0.0239	L	0.58101	1.795	0.80722	D	1	D	0.65815	0.995	D	0.71414	0.973	T	0.44513	-0.9323	10	0.08179	T	0.78	-10.1669	20.5792	0.99380	0.0:1.0:0.0:0.0	.	296	Q7Z304	MAMC2_HUMAN	S	296	ENSP00000366387:P296S	ENSP00000366387:P296S	P	+	1	0	MAMDC2	71931137	1.000000	0.71417	0.491000	0.27477	0.792000	0.44763	7.487000	0.81328	2.873000	0.98535	0.561000	0.74099	CCT	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052600.1		+	ENST00000377182.4	Missense_Mutation	SNP	9 : 72741317 - 72741317 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	196	33
HIST1H2BG	8339	broad.mit.edu	37	6	26216523	26216523	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26216523T>C	ENST00000244601.3	-	1	349	c.349A>G	c.(349-351)Aag>Gag	p.K117E		NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	117					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				GTGACAGCCTTGGTACCTTCG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	99	99			NA	NA	6		NA											NA				26216523		2203	4300	6503	SO:0001583	missense			M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802	8339	8339		Histones / Replication-dependent	4746	protein-coding gene	gene with protein product		602798	H2B histone family, member A, histone 1, H2bg	H2BFA	NA	1916825, 12408966	Standard	NM_003518	NM_003518	NA	Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.349A>G	6.37:g.26216523T>C	ENSP00000244601:p.Lys117Glu	NA	P02278|Q3B872|Q4VB69|Q93078|Q93080	37	CCDS4594.1	.	.	.	.	.	.	.	.	.	.	.	13.14	2.149696	0.37923	.	.	ENSG00000187990	ENST00000244601	T	0.46063	0.88	3.89	3.89	0.44902	.	0.000000	0.34531	U	0.003887	T	0.41143	0.1146	.	.	.	0.34553	D	0.71154	.	.	.	.	.	.	T	0.47209	-0.9135	7	0.59425	D	0.04	.	12.3158	0.54955	0.0:0.0:0.0:1.0	.	.	.	.	E	117	ENSP00000244601:K117E	ENSP00000244601:K117E	K	-	1	0	HIST1H2BG	26324502	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	7.711000	0.84669	1.762000	0.52044	0.459000	0.35465	AAG	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040109.2		-	ENST00000244601.3	Missense_Mutation	SNP	6 : 26216523 - 26216523 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	772	141
DDX4	54514	broad.mit.edu	37	5	55059041	55059041	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55059041A>C	ENST00000505374.1	+	5	336	c.244A>C	c.(244-246)Atg>Ctg	p.M82L	DDX4_ENST00000514278.2_Missense_Mutation_p.M82L|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000354991.5_Missense_Mutation_p.M82L|DDX4_ENST00000353507.5_Missense_Mutation_p.M82L|DDX4_ENST00000508580.1_3'UTR	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	82	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TACATCCACAATGGGTGGTTT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	132	133			NA	NA	5		NA											NA				55059041		2203	4300	6503	SO:0001583	missense			AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670	54514	54514		DEAD-boxes	18700	protein-coding gene	gene with protein product		605281	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4		NA	10920202, 11850529	Standard	NM_024415	NM_001142549	NA	Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.244A>C	5.37:g.55059041A>C	ENSP00000424838:p.Met82Leu	NA	A8K8Q2|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	37	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	A	3.374	-0.127770	0.06753	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000515709;ENST00000506848;ENST00000514679;ENST00000354991;ENST00000511491	T;T;T;T;T;T;T;T	0.43294	2.08;2.06;2.1;3.58;0.98;0.97;2.08;0.95	4.99	-7.6	0.01303	.	0.763357	0.11712	N	0.536851	T	0.25269	0.0614	L	0.36672	1.1	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.22382	-1.0218	10	0.17832	T	0.49	-15.6323	11.6015	0.51006	0.7513:0.1138:0.1349:0.0	.	82;82;82	D6RDK4;Q9NQI0-2;Q9NQI0	.;.;DDX4_HUMAN	L	82;82;82;82;56;82;82;82;82	ENSP00000334167:M82L;ENSP00000425359:M82L;ENSP00000424838:M82L;ENSP00000427167:M82L;ENSP00000424779:M56L;ENSP00000424112:M82L;ENSP00000347087:M82L;ENSP00000427522:M82L	ENSP00000334167:M82L	M	+	1	0	DDX4	55094798	0.001000	0.12720	0.005000	0.12908	0.082000	0.17680	-1.309000	0.02728	-1.647000	0.01511	-0.467000	0.05162	ATG	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214147.2		+	ENST00000505374.1	Missense_Mutation	SNP	5 : 55059041 - 55059041 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	423	71
BTK	695	broad.mit.edu	37	X	100630208	100630208	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100630208G>A	ENST00000308731.7	-	2	228	c.65C>T	c.(64-66)cCt>cTt	p.P22L	BTK_ENST00000464567.1_5'UTR|BTK_ENST00000372880.1_Missense_Mutation_p.P22L	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	22	PH.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GAAGTTTAGAGGTGATGTTTT	0.443		NA							Agammaglobulinemia, X-linked					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													195	171	179			NA	NA	X		NA											NA				100630208		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Bruton Type Agammaglobulinemia	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	695	695	2.7.10.1	Pleckstrin homology (PH) domain containing, SH2 domain containing	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1	NA	8380905	Standard	NM_000061	NM_000061	NA	Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.65C>T	X.37:g.100630208G>A	ENSP00000308176:p.Pro22Leu	NA	Q32ML5	37	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387602	0.82902	.	.	ENSG00000010671	ENST00000372880;ENST00000308731	D;D	0.93659	-3.26;-3.26	5.35	5.35	0.76521	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.95909	0.8668	L	0.60957	1.885	0.80722	D	1	D;D;D	0.89917	0.998;0.99;1.0	D;D;D	0.87578	0.912;0.933;0.998	D	0.95856	0.8879	10	0.51188	T	0.08	.	17.811	0.88616	0.0:0.0:1.0:0.0	.	22;22;22	Q5JY90;B2RAW1;Q06187	.;.;BTK_HUMAN	L	22	ENSP00000361971:P22L;ENSP00000308176:P22L	ENSP00000308176:P22L	P	-	2	0	BTK	100516864	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.036000	0.88901	2.237000	0.73441	0.600000	0.82982	CCT	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057532.2		-	ENST00000308731.7	Missense_Mutation	SNP	X : 100630208 - 100630208 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	583	187
DSCAML1	57453	broad.mit.edu	37	11	117392003	117392003	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117392003G>A	ENST00000321322.6	-	6	1236	c.1235C>T	c.(1234-1236)aCg>aTg	p.T412M	DSCAML1_ENST00000527706.1_Missense_Mutation_p.T142M	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	352	Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CACCAGCTCCGTGTTGCGATA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	82	87			NA	NA	11		NA											NA				117392003		2201	4296	6497	SO:0001583	missense				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103	57453	57453		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	14656	protein-coding gene	gene with protein product		611782			NA	11453658	Standard	NM_020693	NM_020693	NA	Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1235C>T	11.37:g.117392003G>A	ENSP00000315465:p.Thr412Met	NA	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	37	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193169	0.78902	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.30182	1.54;1.54	4.67	4.67	0.58626	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51873	0.1700	L	0.58810	1.83	0.58432	D	0.999998	D;D	0.69078	0.997;0.997	D;D	0.66847	0.912;0.947	T	0.55945	-0.8060	9	0.87932	D	0	.	17.7518	0.88436	0.0:0.0:1.0:0.0	.	142;352	G3V1B5;Q8TD84	.;DSCL1_HUMAN	M	142;412;119	ENSP00000434335:T142M;ENSP00000315465:T412M	ENSP00000315465:T412M	T	-	2	0	DSCAML1	116897213	1.000000	0.71417	0.942000	0.38095	0.958000	0.62258	6.316000	0.72857	2.417000	0.82017	0.609000	0.83330	ACG	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392907.2		-	ENST00000321322.6	Missense_Mutation	SNP	11 : 117392003 - 117392003 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	658	138
BDNF	627	broad.mit.edu	37	11	27679922	27679922	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:27679922C>T	ENST00000525528.1	-	1	1283	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	BDNF_ENST00000395980.2_Missense_Mutation_p.E64K|BDNF-AS_ENST00000501176.2_RNA|BDNF-AS_ENST00000500662.2_RNA|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000395978.3_Missense_Mutation_p.E64K|BDNF_ENST00000314915.6_Missense_Mutation_p.E72K|BDNF_ENST00000418212.1_Missense_Mutation_p.E64K|BDNF_ENST00000533246.1_Missense_Mutation_p.E64K|BDNF_ENST00000439476.2_Missense_Mutation_p.E64K|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000533131.1_Missense_Mutation_p.E64K|BDNF_ENST00000356660.4_Missense_Mutation_p.E64K|BDNF-AS_ENST00000499008.3_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000530861.1_Missense_Mutation_p.E64K|BDNF_ENST00000420794.1_Missense_Mutation_p.E64K|BDNF_ENST00000395983.3_Missense_Mutation_p.E64K|BDNF_ENST00000395986.2_Missense_Mutation_p.E79K|BDNF_ENST00000525950.1_Missense_Mutation_p.E64K|BDNF_ENST00000395981.3_Missense_Mutation_p.E64K|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000532997.1_Missense_Mutation_p.E64K|BDNF_ENST00000438929.1_Missense_Mutation_p.E146K	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	64						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						ATCACGTGTTCGAAAGTGTCA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													198	190	193			NA	NA	11		NA											NA				27679922		2202	4299	6501	SO:0001583	missense			AB038670	CCDS7865.1, CCDS7866.1, CCDS44558.1, CCDS41628.1	11p14.1	2014-01-30			ENSG00000176697	ENSG00000176697	627	627		Endogenous ligands	1033	protein-coding gene	gene with protein product	neurotrophin	113505			NA	2236018, 1889806, 17942328, 17493809	Standard	NM_170735	NM_170731	NA	Approved		uc009yje.3	P23560	OTTHUMG00000178797	ENST00000525528.1:c.190G>A	11.37:g.27679922C>T	ENSP00000437138:p.Glu64Lys	NA	A7LA85|A7LA92|D3DQZ2|Q598Q1|Q6DN19|Q6YNR2|Q6YNR3|Q9BYY7|Q9UC24	37	CCDS7866.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446234	0.63178	.	.	ENSG00000176697	ENST00000439476;ENST00000525528;ENST00000395986;ENST00000533131;ENST00000356660;ENST00000418212;ENST00000533246;ENST00000530861;ENST00000395983;ENST00000438929;ENST00000395980;ENST00000532997;ENST00000395981;ENST00000395978;ENST00000525950;ENST00000314915;ENST00000420794;ENST00000528035	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.80529	0.4640	M	0.70275	2.135	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;0.995;0.992;0.995	D;D;D;D;D	0.85130	0.997;0.919;0.97;0.935;0.97	T	0.80056	-0.1542	10	0.87932	D	0	-18.7903	20.8598	0.99761	0.0:1.0:0.0:0.0	.	93;146;72;64;79	P23560-5;P23560-4;P23560-2;P23560;P23560-3	.;.;.;BDNF_HUMAN;.	K	64;64;79;64;64;64;64;64;64;146;64;64;64;64;64;72;64;64	ENSP00000389345:E64K;ENSP00000437138:E64K;ENSP00000379309:E79K;ENSP00000432727:E64K;ENSP00000349084:E64K;ENSP00000400502:E64K;ENSP00000432376:E64K;ENSP00000435564:E64K;ENSP00000379307:E64K;ENSP00000414303:E146K;ENSP00000379304:E64K;ENSP00000435805:E64K;ENSP00000379305:E64K;ENSP00000379302:E64K;ENSP00000432035:E64K;ENSP00000320002:E72K;ENSP00000389564:E64K	ENSP00000320002:E72K	E	-	1	0	BDNF	27636498	1.000000	0.71417	0.991000	0.47740	0.874000	0.50279	7.786000	0.85741	2.937000	0.99478	0.650000	0.86243	GAA	BDNF-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388135.1		-	ENST00000525528.1	Missense_Mutation	SNP	11 : 27679922 - 27679922 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	898	153
MUC4	4585	broad.mit.edu	37	3	195487809	195487809	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195487809C>T	ENST00000463781.3	-	16	15253	c.14794G>A	c.(14794-14796)Gga>Aga	p.G4932R	MUC4_ENST00000349607.4_Missense_Mutation_p.G645R|MUC4_ENST00000475231.1_Missense_Mutation_p.G4880R|MUC4_ENST00000346145.4_Missense_Mutation_p.G696R	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1689					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGTGAAGTCCGATGCTTGCG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	114	119			NA	NA	3		NA											NA				195487809		2203	4300	6503	SO:0001583	missense			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113	4585	4585		Mucins	7514	protein-coding gene	gene with protein product		158372	mucin 4, tracheobronchial		NA	1673336	Standard	NM_018406	NM_004532	NA	Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.14794G>A	3.37:g.195487809C>T	ENSP00000417498:p.Gly4932Arg	NA	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	.	15.21	2.765484	0.49574	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.61040	0.14;0.5;0.36;0.35	4.98	4.98	0.66077	.	0.000000	0.51477	D	0.000100	T	0.74772	0.3760	M	0.72894	2.215	0.29535	N	0.852531	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.991;0.995;0.999;0.999;0.998	T	0.73512	-0.3959	10	0.87932	D	0	-12.1818	15.4417	0.75187	0.0:1.0:0.0:0.0	.	4804;645;696;4932;4880;1637	E7ESK3;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;.;.;.;.;.	R	645;696;4932;4880;1432	ENSP00000338109:G645R;ENSP00000304207:G696R;ENSP00000417498:G4932R;ENSP00000420243:G4880R	ENSP00000304207:G696R	G	-	1	0	MUC4	196973480	0.131000	0.22433	0.062000	0.19696	0.017000	0.09413	2.220000	0.42908	2.333000	0.79357	0.556000	0.70494	GGA	MUC4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324081.6		-	ENST00000463781.3	Missense_Mutation	SNP	3 : 195487809 - 195487809 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	511	111
ZBTB32	27033	broad.mit.edu	37	19	36205967	36205967	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36205967G>T	ENST00000392197.2	+	3	757	c.439G>T	c.(439-441)Gag>Tag	p.E147*	ZBTB32_ENST00000262630.3_Nonsense_Mutation_p.E147*			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	147					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGACCCTGGAGAGAAGCAGAA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	44	43			NA	NA	19		NA											NA				36205967		2203	4300	6503	SO:0001587	stop_gained			AF130255	CCDS12471.1	19q13.1	2013-01-08			ENSG00000011590	ENSG00000011590	27033	27033		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	16763	protein-coding gene	gene with protein product	repressor of GATA	605859			NA	10572087	Standard	NM_014383	XM_005258739	NA	Approved	TZFP, FAZF, FAXF, Rog, ZNF538	uc002oay.3	Q9Y2Y4	OTTHUMG00000048118	ENST00000392197.2:c.439G>T	19.37:g.36205967G>T	ENSP00000376035:p.Glu147*	NA	Q8WVP2	37	CCDS12471.1	.	.	.	.	.	.	.	.	.	.	G	7.091	0.572239	0.13623	.	.	ENSG00000011590	ENST00000262630;ENST00000392197	.	.	.	5.2	0.103	0.14526	.	0.463445	0.18365	N	0.143458	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-2.4779	7.9708	0.30126	0.3984:0.0:0.6016:0.0	.	.	.	.	X	147	.	ENSP00000262630:E147X	E	+	1	0	ZBTB32	40897807	0.091000	0.21658	0.010000	0.14722	0.360000	0.29518	0.189000	0.17037	0.218000	0.20820	0.655000	0.94253	GAG	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109491.3		+	ENST00000392197.2	Nonsense_Mutation	SNP	19 : 36205967 - 36205967 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	268	44
SEC24B	10427	broad.mit.edu	37	4	110452568	110452568	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110452568C>T	ENST00000504968.2	+	21	3468	c.3370C>T	c.(3370-3372)Cgg>Tgg	p.R1124W	SEC24B_ENST00000265175.5_Missense_Mutation_p.R1094W|SEC24B_ENST00000399100.2_Missense_Mutation_p.R1059W			O95487	SC24B_HUMAN	SEC24 family member B	1094					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TACAAGCACACGGCTGGATGA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	104	106			NA	NA	4		NA											NA				110452568		1877	4124	6001	SO:0001583	missense			AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802	10427	10427			10704	protein-coding gene	gene with protein product		607184	SEC24 (S. cerevisiae) related gene family, member B, SEC24 family, member B (S. cerevisiae)		NA	10075675, 10329445	Standard		XM_005262688	NA	Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000504968.2:c.3370C>T	4.37:g.110452568C>T	ENSP00000428564:p.Arg1124Trp	NA	B7ZKN4|Q0VG08	37		.	.	.	.	.	.	.	.	.	.	C	22.7	4.323675	0.81580	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	D;D;D	0.90133	-2.62;-2.62;-2.62	5.48	4.63	0.57726	Sec23/Sec24, helical domain (2);	0.000000	0.85682	D	0.000000	D	0.95890	0.8662	M	0.89904	3.07	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0	P;D;D;D;D	0.91635	0.837;0.998;0.977;0.998;0.999	D	0.96419	0.9310	10	0.87932	D	0	-14.7145	14.6548	0.68825	0.0:0.9288:0.0:0.0712	.	1008;693;1124;1059;1094	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	W	1124;1059;1094	ENSP00000428564:R1124W;ENSP00000382051:R1059W;ENSP00000265175:R1094W	ENSP00000265175:R1094W	R	+	1	2	SEC24B	110672017	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.129000	0.50500	2.579000	0.87056	0.650000	0.86243	CGG	SEC24B-003	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000364695.2		+	ENST00000504968.2	Missense_Mutation	SNP	4 : 110452568 - 110452568 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	434	74
SST	6750	broad.mit.edu	37	3	187386922	187386922	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:187386922C>T	ENST00000287641.3	-	2	389	c.282G>A	c.(280-282)ccG>ccA	p.P94P		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	94					digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Bromocriptine(DB01200)|Cysteamine(DB00847)	GTGCCATAGCCGGGTTTGAGT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													215	210	212			NA	NA	3		NA											NA				187386922		2203	4300	6503	SO:0001819	synonymous_variant				CCDS3288.1	3q28	2013-02-28			ENSG00000157005	ENSG00000157005	6750	6750		Endogenous ligands	11329	protein-coding gene	gene with protein product	somatostatin-14, somatostatin-28, prepro-somatostatin	182450			NA	6126875, 6142531	Standard	NM_001048	NM_001048	NA	Approved	SMST	uc003frn.3	P61278	OTTHUMG00000156462	ENST00000287641.3:c.282G>A	3.37:g.187386922C>T		NA	B2R5G3|P01166	37	CCDS3288.1																																																																																			SST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344278.1		-	ENST00000287641.3	Silent	SNP	3 : 187386922 - 187386922 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1427	268
TRRAP	8295	broad.mit.edu	37	7	98535413	98535413	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98535413C>T	ENST00000446306.3	+	29	4432	c.4371C>T	c.(4369-4371)tcC>tcT	p.S1457S	TRRAP_ENST00000355540.3_Silent_p.S1458S|TRRAP_ENST00000359863.4_Silent_p.S1458S			Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1458					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCCCAAATTCCTTCAATGATA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	48	52			NA	NA	7		NA											NA				98535413		2203	4300	6503	SO:0001819	synonymous_variant			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367	8295	8295			12347	protein-coding gene	gene with protein product		603015			NA	9708738, 9885574	Standard	NM_003496	NM_003496	NA	Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000446306.3:c.4371C>T	7.37:g.98535413C>T		NA	A4D265|O75218|Q9Y631|Q9Y6H4	37		.	.	.	.	.	.	.	.	.	.	C	10.09	1.256147	0.22965	.	.	ENSG00000196367	ENST00000456197	.	.	.	6.08	3.11	0.35812	.	.	.	.	.	T	0.55986	0.1955	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50259	-0.8849	4	.	.	.	.	7.5057	0.27542	0.0:0.6585:0.1185:0.2229	.	.	.	.	L	1173	.	.	P	+	2	0	TRRAP	98373349	0.993000	0.37304	1.000000	0.80357	0.991000	0.79684	0.394000	0.20834	0.837000	0.34925	-0.345000	0.07892	CCT	TRRAP-004	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000317981.3		+	ENST00000446306.3	Silent	SNP	7 : 98535413 - 98535413 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	244	48
FANCM	57697	broad.mit.edu	37	14	45658561	45658561	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45658561A>C	ENST00000542564.2	+	19	5336	c.5258A>C	c.(5257-5259)cAg>cCg	p.Q1753P	FANCM_ENST00000267430.5_Missense_Mutation_p.Q1779P			Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1779	Interaction with FAAP24 and EME1.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CCAGTTCCACAGAAGGTATGG	0.353		NA						Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	74	73			NA	NA	14		NA											NA				45658561		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790	57697	57697		Fanconi anemia, complementation groups	23168	protein-coding gene	gene with protein product		609644	KIAA1596	KIAA1596	NA	10997877, 16116422	Standard	XM_048128	NM_020937	NA	Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000542564.2:c.5258A>C	14.37:g.45658561A>C	ENSP00000442493:p.Gln1753Pro	NA	Q3YFH9|Q8N9X6|Q9HCH6	37		.	.	.	.	.	.	.	.	.	.	A	7.806	0.714759	0.15306	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.18960	2.78;2.77;2.18	5.28	-0.183	0.13284	.	2.779230	0.01115	N	0.005661	T	0.13884	0.0336	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17018	-1.0383	10	0.30078	T	0.28	.	3.3885	0.07281	0.2996:0.1744:0.0:0.526	.	1753;1779	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	P	1779;1753;1295	ENSP00000267430:Q1779P;ENSP00000442493:Q1753P;ENSP00000452033:Q1295P	ENSP00000267430:Q1779P	Q	+	2	0	FANCM	44728311	0.000000	0.05858	0.001000	0.08648	0.079000	0.17450	-0.677000	0.05215	0.088000	0.17205	-1.328000	0.01277	CAG	FANCM-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000410475.1		+	ENST00000542564.2	Missense_Mutation	SNP	14 : 45658561 - 45658561 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	401	16
CLEC9A	283420	broad.mit.edu	37	12	10206926	10206926	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10206926G>A	ENST00000355819.1	+	5	761	c.148G>A	c.(148-150)Gca>Aca	p.A50T		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	50					positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						ATTATTAACAGCATCCATTTT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	130	140			NA	NA	12		NA											NA				10206926		2203	4300	6503	SO:0001583	missense				CCDS8611.1	12p13.31	2010-04-27				ENSG00000197992	283420	283420		C-type lectin domain containing	26705	protein-coding gene	gene with protein product		612252			NA		Standard	NM_207345	NM_207345	NA	Approved	UNQ9341, HEEE9341	uc001qxa.3	Q6UXN8		ENST00000355819.1:c.148G>A	12.37:g.10206926G>A	ENSP00000348074:p.Ala50Thr	NA	B0ZBM2	37	CCDS8611.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.920691	0.00498	.	.	ENSG00000197992	ENST00000355819	T	0.01313	5.02	3.89	-2.15	0.07102	.	0.672896	0.13056	N	0.417266	T	0.00440	0.0014	N	0.00399	-1.545	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44605	-0.9317	10	0.06365	T	0.9	.	7.9944	0.30258	0.4952:0.0:0.5048:0.0	.	50	Q6UXN8	CLC9A_HUMAN	T	50	ENSP00000348074:A50T	ENSP00000348074:A50T	A	+	1	0	CLEC9A	10098193	0.000000	0.05858	0.082000	0.20525	0.268000	0.26511	-0.467000	0.06664	-0.309000	0.08779	-0.423000	0.05987	GCA	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399564.1		+	ENST00000355819.1	Missense_Mutation	SNP	12 : 10206926 - 10206926 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	238	37
ABCA6	23460	broad.mit.edu	37	17	67119474	67119474	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67119474C>T	ENST00000284425.2	-	10	1516	c.1342G>A	c.(1342-1344)Gct>Act	p.A448T		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	448					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATAACCTTAGCATTAGTCCTT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	108	109			NA	NA	17		NA											NA				67119474		2203	4300	6503	SO:0001583	missense			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262	23460	23460		ATP binding cassette transporters / subfamily A	36	protein-coding gene	gene with protein product		612504			NA	8894702	Standard	NM_080284	NM_080284	NA	Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.1342G>A	17.37:g.67119474C>T	ENSP00000284425:p.Ala448Thr	NA	Q6NSH9|Q8N856|Q8WWZ6	37	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	C	2.636	-0.285178	0.05605	.	.	ENSG00000154262	ENST00000284425	D	0.86562	-2.14	4.12	-2.43	0.06522	.	1.589470	0.03812	N	0.266052	T	0.71995	0.3406	N	0.16903	0.455	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.56068	-0.8040	10	0.15499	T	0.54	.	1.2143	0.01911	0.1465:0.263:0.1367:0.4539	.	448	Q8N139	ABCA6_HUMAN	T	448	ENSP00000284425:A448T	ENSP00000284425:A448T	A	-	1	0	ABCA6	64631069	0.000000	0.05858	0.000000	0.03702	0.270000	0.26580	-0.144000	0.10280	-0.513000	0.06496	-0.264000	0.10439	GCT	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450463.1		-	ENST00000284425.2	Missense_Mutation	SNP	17 : 67119474 - 67119474 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	274	49
RPUSD1	113000	broad.mit.edu	37	16	836178	836178	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:836178G>A	ENST00000561734.1	-	5	954	c.711C>T	c.(709-711)tgC>tgT	p.C237C	RPUSD1_ENST00000565809.1_3'UTR|RPUSD1_ENST00000007264.2_Silent_p.C237C|RPUSD1_ENST00000567114.1_Silent_p.C108C			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	237					pseudouridine synthesis		pseudouridine synthase activity|RNA binding			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				GGGGGCTCCAGCAGGCATCCA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	64	61			NA	NA	16		NA											NA				836178		2200	4296	6496	SO:0001819	synonymous_variant			AE006465	CCDS10426.1	16p13.3	2013-02-11	2005-01-31	2005-01-31	ENSG00000007376	ENSG00000007376	113000	113000		RNA pseudouridylate synthase domain containing	14173	protein-coding gene	gene with protein product			chromosome 16 open reading frame 40	C16orf40	NA		Standard	NM_058192	NM_058192	NA	Approved	RLUCL, MGC19600	uc002ckb.3	Q9UJJ7	OTTHUMG00000047840	ENST00000561734.1:c.711C>T	16.37:g.836178G>A		NA	D3DU66	37	CCDS10426.1																																																																																			RPUSD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000420620.1		-	ENST00000561734.1	Silent	SNP	16 : 836178 - 836178 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	597	25
ATF7IP	55729	broad.mit.edu	37	12	14634068	14634068	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:14634068C>T	ENST00000544627.1	+	13	3573	c.3253C>T	c.(3253-3255)Cga>Tga	p.R1085*	ATF7IP_ENST00000536444.1_Nonsense_Mutation_p.R1076*|ATF7IP_ENST00000543189.1_Nonsense_Mutation_p.R1076*|ATF7IP_ENST00000540793.1_Nonsense_Mutation_p.R1077*|ATF7IP_ENST00000261168.4_Nonsense_Mutation_p.R1077*			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1077					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GGCTCCCTTGCGAGGAACTGT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	78	79			NA	NA	12		NA											NA				14634068		2203	4300	6503	SO:0001587	stop_gained			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681	55729	55729			20092	protein-coding gene	gene with protein product		613644			NA	10976766, 10777215	Standard	NM_018179	XM_005253424	NA	Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000544627.1:c.3253C>T	12.37:g.14634068C>T	ENSP00000440440:p.Arg1085*	NA	Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.375134|9.375134	0.99151|0.99151	.|.	.|.	ENSG00000171681|ENSG00000171681	ENST00000535738|ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	.|.	.|.	.|.	5.43|5.43	4.49|4.49	0.54785|0.54785	.|.	.|0.000000	.|0.52532	.|D	.|0.000065	T|.	0.36220|.	0.0959|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.25950|.	-1.0117|.	3|.	.|0.02654	.|T	.|1	-10.9841|-10.9841	15.726|15.726	0.77761|0.77761	0.1941:0.8059:0.0:0.0|0.1941:0.8059:0.0:0.0	.|.	.|.	.|.	.|.	V|X	90|1077;1076;1076;1085;1077	.|.	.|ENSP00000261168:R1077X	A|R	+|+	2|1	0|2	ATF7IP|ATF7IP	14525335|14525335	0.725000|0.725000	0.28048|0.28048	0.997000|0.997000	0.53966|0.53966	0.990000|0.990000	0.78478|0.78478	1.798000|1.798000	0.38814|0.38814	2.693000|2.693000	0.91896|0.91896	0.650000|0.650000	0.86243|0.86243	GCG|CGA	ATF7IP-002	PUTATIVE	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000400500.3		+	ENST00000544627.1	Nonsense_Mutation	SNP	12 : 14634068 - 14634068 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	498	73
RPA2	6118	broad.mit.edu	37	1	28218701	28218701	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28218701G>A	ENST00000373912.3	-	9	1085	c.786C>T	c.(784-786)gaC>gaT	p.D262D	RPA2_ENST00000313433.7_Silent_p.D350D|RPA2_ENST00000373909.3_Silent_p.D270D	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa	262	Asp/Glu-rich (acidic).|Interaction with TIPIN (By similarity).				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body	protein phosphatase binding|single-stranded DNA binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		ATTTAAAATGGTCATCATCCA	0.403		NA						Direct reversal of damage;Nucleotide excision repair (NER)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	108	111			NA	NA	1		NA											NA				28218701		2203	4300	6503	SO:0001819	synonymous_variant			BC021257	CCDS314.1, CCDS72740.1	1p35	2008-02-05	2002-08-29		ENSG00000117748	ENSG00000117748	6118	6118			10290	protein-coding gene	gene with protein product		179836	replication protein A2 (32kD)		NA	8454588	Standard	NM_002946	XM_005245965	NA	Approved		uc001bpe.1	P15927	OTTHUMG00000003915	ENST00000373912.3:c.786C>T	1.37:g.28218701G>A		NA	Q52II0|Q5TEI9|Q5TEJ5	37	CCDS314.1																																																																																			RPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000011179.1		-	ENST00000373912.3	Silent	SNP	1 : 28218701 - 28218701 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	519	50
EPPK1	83481	broad.mit.edu	37	8	144940249	144940249	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144940249C>T	ENST00000525985.1	-	2	7244	c.7173G>A	c.(7171-7173)acG>acA	p.T2391T				P58107	EPIPL_HUMAN	epiplakin 1	2391						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTTCTCGTGCGTGTTGGGGT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													210	201	204			NA	NA	8		NA											NA				144940249		2178	4262	6440	SO:0001819	synonymous_variant			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150	83481	83481			15577	protein-coding gene	gene with protein product	epidermal autoantigen 450K	607553			NA	11278896, 15671067	Standard	NM_031308	NM_031308	NA	Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7173G>A	8.37:g.144940249C>T		NA	Q76E58	37																																																																																				EPPK1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000382675.1		-	ENST00000525985.1	Silent	SNP	8 : 144940249 - 144940249 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2038	47
SELE	6401	broad.mit.edu	37	1	169695060	169695060	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169695060A>C	ENST00000333360.7	-	12	1902	c.1763T>G	c.(1762-1764)tTt>tGt	p.F588C	SELE_ENST00000367780.4_Missense_Mutation_p.F463C|SELE_ENST00000367781.4_Missense_Mutation_p.F525C|SELE_ENST00000367775.1_Missense_Mutation_p.F463C|SELE_ENST00000367777.1_Missense_Mutation_p.F525C|SELE_ENST00000367779.4_Missense_Mutation_p.F462C|SELE_ENST00000367782.4_Missense_Mutation_p.F525C|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367776.1_Missense_Mutation_p.F525C|SELE_ENST00000367774.1_Missense_Mutation_p.F462C	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	588					actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GGCAGGAACAAATTTCTTTGC	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	70	70			NA	NA	1		NA											NA				169695060		2203	4300	6503	SO:0001583	missense			M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908	6401	6401		CD molecules	10718	protein-coding gene	gene with protein product		131210	endothelial adhesion molecule 1	ELAM1, ELAM	NA	1375831	Standard	NM_000450	NM_000450	NA	Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.1763T>G	1.37:g.169695060A>C	ENSP00000331736:p.Phe588Cys	NA	A2RRD6|P16111	37	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	A	15.31	2.795961	0.50208	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	T;T;T;T;T;T;T;T;T	0.21031	2.1;2.03;2.24;2.04;2.07;2.03;2.24;2.1;2.04	5.08	5.08	0.68730	.	0.206931	0.24539	N	0.037653	T	0.31857	0.0810	M	0.72894	2.215	0.35693	D	0.814992	D	0.76494	0.999	D	0.65573	0.936	T	0.25047	-1.0143	10	0.66056	D	0.02	-27.9936	11.5612	0.50778	1.0:0.0:0.0:0.0	.	588	P16581	LYAM2_HUMAN	C	525;525;463;462;588;525;463;525;462	ENSP00000356755:F525C;ENSP00000356756:F525C;ENSP00000356754:F463C;ENSP00000356753:F462C;ENSP00000331736:F588C;ENSP00000356751:F525C;ENSP00000356749:F463C;ENSP00000356750:F525C;ENSP00000356748:F462C	ENSP00000331736:F588C	F	-	2	0	SELE	167961684	1.000000	0.71417	0.986000	0.45419	0.487000	0.33371	5.264000	0.65513	2.050000	0.60909	0.528000	0.53228	TTT	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084333.1		-	ENST00000333360.7	Missense_Mutation	SNP	1 : 169695060 - 169695060 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	8
DISC1	27185	broad.mit.edu	37	1	231829955	231829955	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:231829955G>T	ENST00000439617.2	+	2	504	c.451G>T	c.(451-453)Gat>Tat	p.D151Y	DISC1_ENST00000537876.1_Missense_Mutation_p.D151Y|DISC1_ENST00000317586.4_Missense_Mutation_p.D151Y|DISC1_ENST00000539444.1_Missense_Mutation_p.D151Y|DISC1_ENST00000535983.1_Missense_Mutation_p.D151Y|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366633.3_Missense_Mutation_p.D151Y|DISC1_ENST00000602281.1_Missense_Mutation_p.D151Y|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000366636.4_Missense_Mutation_p.D151Y	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	151	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				TGCAGCCATGGATAGTTCTGA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	46	46			NA	NA	1		NA											NA				231829955		2203	4300	6503	SO:0001583	missense			AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946	27185	27185			2888	protein-coding gene	gene with protein product		605210			NA	10814723	Standard	NM_018662	NM_001164550	NA	Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000439617.2:c.451G>T	1.37:g.231829955G>T	ENSP00000403888:p.Asp151Tyr	NA	C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	37		.	.	.	.	.	.	.	.	.	.	G	16.17	3.048278	0.55110	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000317586;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000537876;ENST00000366633;ENST00000539444;ENST00000295051;ENST00000535944;ENST00000366632	T;T;T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46	4.89	2.94	0.34122	.	0.558568	0.18836	N	0.129833	T	0.40297	0.1111	L	0.36672	1.1	0.21290	N	0.99974	P;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.844;1.0;0.999;1.0;1.0;0.999;1.0;1.0;1.0;1.0;0.974;1.0;1.0;1.0;0.999;1.0;1.0;0.999;1.0;1.0;0.974	P;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D;D;P	0.78314	0.534;0.988;0.961;0.991;0.988;0.961;0.988;0.988;0.988;0.988;0.705;0.988;0.991;0.988;0.964;0.977;0.991;0.964;0.977;0.988;0.705	T	0.04255	-1.0965	10	0.44086	T	0.13	-23.4826	9.4905	0.38955	0.0:0.1529:0.6902:0.1569	.	151;151;151;151;151;151;151;151;151;151;151;151;151;151;151;151;151;151;151;151;151	C4P094;C4P0A3;C4P098;C4P0A1;C4P0A4;A6NLH2;C4P0A5;C4P095;C4P0B6;C4P0C4;C4P091;C4P0D2;C4P0D3;C4P0B1;A7E2W8;Q5T409;C4P0D0;Q9NRI5-2;Q9NRI5;Q9NRI5-3;Q9NRI5-4	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.;.	Y	151;151;151;151;151;151;151;151;151;151;151;151;2	ENSP00000403888:D151Y;ENSP00000320784:D151Y;ENSP00000355596:D151Y;ENSP00000443996:D151Y;ENSP00000440909:D151Y;ENSP00000355593:D151Y;ENSP00000440953:D151Y;ENSP00000295051:D151Y;ENSP00000441193:D151Y	ENSP00000295051:D151Y	D	+	1	0	DISC1	229896578	0.945000	0.32115	0.881000	0.34555	0.052000	0.14988	2.216000	0.42871	2.519000	0.84933	0.655000	0.94253	GAT	DISC1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000092351.2		+	ENST00000439617.2	Missense_Mutation	SNP	1 : 231829955 - 231829955 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	310	27
TRMT5	57570	broad.mit.edu	37	14	61442419	61442419	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61442419C>T	ENST00000261249.6	-	4	1602	c.1218G>A	c.(1216-1218)caG>caA	p.Q406Q	RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	406						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		TGCTGCATGGCTGCCCATCTA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	92	92			NA	NA	14		NA											NA				61442419		2203	4300	6503	SO:0001819	synonymous_variant			AB037814	CCDS32092.1	14q23.1	2013-06-05	2013-06-05	2005-08-11		ENSG00000126814	57570	57570	2.1.1.228		23141	protein-coding gene	gene with protein product	tRNA (guanine(37)-N1)-methyltransferase	611023	KIAA1393, tRNA methyltransferase 5 homolog (S. cerevisiae)	KIAA1393	NA	15248782	Standard	NM_02081	XM_005267916	NA	Approved	TRM5	uc001xff.4	Q32P41		ENST00000261249.6:c.1218G>A	14.37:g.61442419C>T		NA	Q9P2F4	37	CCDS32092.1																																																																																			TRMT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412831.1		-	ENST00000261249.6	Silent	SNP	14 : 61442419 - 61442419 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	68
CGNL1	84952	broad.mit.edu	37	15	57754064	57754064	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:57754064A>C	ENST00000281282.5	+	8	2455	c.2377A>C	c.(2377-2379)Agg>Cgg	p.R793R		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	793						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GCAGGCCCTGAGGGAGAGTGT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	84	86			NA	NA	15		NA											NA				57754064		2192	4292	6484	SO:0001819	synonymous_variant			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849	84952	84952			25931	protein-coding gene	gene with protein product		607856			NA	11214970	Standard	NM_032866	NM_001252335	NA	Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.2377A>C	15.37:g.57754064A>C		NA	Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	37	CCDS10161.1																																																																																			CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255482.2		+	ENST00000281282.5	Silent	SNP	15 : 57754064 - 57754064 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	46
WDR1	9948	broad.mit.edu	37	4	10099401	10099401	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:10099401C>T	ENST00000499869.2	-	5	685	c.492G>A	c.(490-492)acG>acA	p.T164T	WDR1_ENST00000502702.1_Intron|WDR1_ENST00000382452.2_Silent_p.T164T|WDR1_ENST00000382451.2_Intron			O75083	WDR1_HUMAN	WD repeat domain 1	164					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CATCGCTTCCCGTGGCCAGCC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	72	70			NA	NA	4		NA											NA				10099401		1970	4158	6128	SO:0001819	synonymous_variant			AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127	9948	9948		WD repeat domain containing	12754	protein-coding gene	gene with protein product		604734			NA	10036186	Standard		NM_017491	NA	Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.492G>A	4.37:g.10099401C>T		NA	A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	37	CCDS54740.1																																																																																			WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359877.1		-	ENST00000499869.2	Silent	SNP	4 : 10099401 - 10099401 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	290	56
DPP9	91039	broad.mit.edu	37	19	4690947	4690947	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4690947C>A	ENST00000262960.9	-	14	1816	c.1539G>T	c.(1537-1539)aaG>aaT	p.K513N	DPP9_ENST00000594671.1_Missense_Mutation_p.K484N|DPP9_ENST00000598800.1_Missense_Mutation_p.K484N	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	484					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CAATCTCTTCCTTAATGGGGC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	62	61			NA	NA	19		NA											NA				4690947		1963	4154	6117	SO:0001583	missense			AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002	91039	91039			18648	protein-coding gene	gene with protein product		608258	dipeptidylpeptidase 9		NA		Standard		NM_139159	NA	Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000262960.9:c.1539G>T	19.37:g.4690947C>A	ENSP00000262960:p.Lys513Asn	NA	O75273|O75868|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	37	CCDS45928.1	.	.	.	.	.	.	.	.	.	.	C	6.528	0.465689	0.12402	.	.	ENSG00000142002	ENST00000357909;ENST00000381797;ENST00000262960	T	0.30448	1.53	4.39	2.15	0.27550	.	0.166608	0.51477	D	0.000082	T	0.27278	0.0669	M	0.65975	2.015	0.52501	D	0.99995	B	0.20459	0.045	B	0.26614	0.071	T	0.07520	-1.0768	10	0.30078	T	0.28	-23.8297	4.6523	0.12601	0.0:0.6645:0.0:0.3355	.	513	Q1ZZB8	.	N	592;454;513	ENSP00000262960:K513N	ENSP00000262960:K513N	K	-	3	2	DPP9	4641947	0.999000	0.42202	1.000000	0.80357	0.285000	0.27093	0.716000	0.25836	1.086000	0.41228	-0.263000	0.10527	AAG	DPP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458940.2		-	ENST00000262960.9	Missense_Mutation	SNP	19 : 4690947 - 4690947 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	90	18
LHX3	8022	broad.mit.edu	37	9	139091657	139091657	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139091657C>A	ENST00000371746.3	-	3	454	c.336G>T	c.(334-336)caG>caT	p.Q112H	LHX3_ENST00000371748.5_Missense_Mutation_p.Q107H	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	107	LIM zinc-binding 2.				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		ACACGAAGTCCTGGGCGCGGC	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	21	22			NA	NA	9		NA											NA				139091657		2202	4298	6500	SO:0001583	missense			AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187	8022	8022		Homeoboxes / LIM class	6595	protein-coding gene	gene with protein product		600577			NA	10598593, 10717474	Standard		NM_178138	NA	Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371746.3:c.336G>T	9.37:g.139091657C>A	ENSP00000360811:p.Gln112His	NA	Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	37	CCDS6995.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.348179	0.61183	.	.	ENSG00000107187	ENST00000371748;ENST00000371746;ENST00000325195	D;D	0.87729	-2.29;-2.29	4.35	2.34	0.29019	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.89178	0.6641	L	0.46670	1.46	0.80722	D	1	D;B	0.76494	0.999;0.094	D;B	0.71870	0.975;0.193	D	0.88054	0.2789	10	0.52906	T	0.07	.	10.3249	0.43787	0.0:0.8094:0.0:0.1906	.	107;112	Q9UBR4;F1T0D9	LHX3_HUMAN;.	H	107;112;110	ENSP00000360813:Q107H;ENSP00000360811:Q112H	ENSP00000319224:Q110H	Q	-	3	2	LHX3	138231478	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.773000	0.38563	1.063000	0.40649	-0.221000	0.12465	CAG	LHX3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055049.1		-	ENST00000371746.3	Missense_Mutation	SNP	9 : 139091657 - 139091657 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	144	26
C9orf114	51490	broad.mit.edu	37	9	131591055	131591055	+	Missense_Mutation	SNP	C	C	T	rs138669669		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131591055C>T	ENST00000361256.5	-	3	207	c.167G>A	c.(166-168)cGc>cAc	p.R56H		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	56										kidney(2)|large_intestine(4)|ovary(1)	7						CTCTTCCAGGCGCTTTGCCTG	0.562		NA											C	1	5e-04	NA	NA	2184	0.0017	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9049	EXOME	NA	NA	6e-04	SNP								NA				0													102	105	104			NA	NA	9		NA											NA				131591055		2203	4300	6503	SO:0001583	missense				CCDS6913.1	9q34.11	2014-05-29			ENSG00000198917	ENSG00000198917	51490	51490			26933	protein-coding gene	gene with protein product	centromere protein 32				NA	20813266	Standard	NM_016390	NM_016390	NA	Approved	HSPC109, CENP-32	uc004bwd.3	Q5T280	OTTHUMG00000020762	ENST00000361256.5:c.167G>A	9.37:g.131591055C>T	ENSP00000354812:p.Arg56His	NA	Q0D2P6|Q6P469|Q6PGP9|Q6PIJ1|Q6PJV9	37	CCDS6913.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.18	2.756269	0.49362	.	.	ENSG00000198917	ENST00000361256;ENST00000372618	T	0.23754	1.89	4.69	-4.72	0.03269	.	0.936047	0.09163	N	0.839890	T	0.16769	0.0403	L	0.43152	1.355	0.22666	N	0.998873	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31308	-0.9948	10	0.45353	T	0.12	0.5691	4.5371	0.12038	0.5098:0.1352:0.0:0.355	.	56;56	E7ESY7;Q5T280	.;CI114_HUMAN	H	56	ENSP00000354812:R56H	ENSP00000354812:R56H	R	-	2	0	C9orf114	130630876	0.014000	0.17966	0.699000	0.30290	0.735000	0.41995	-0.488000	0.06497	-0.778000	0.04566	0.561000	0.74099	CGC	C9orf114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054500.1		-	ENST00000361256.5	Missense_Mutation	SNP	9 : 131591055 - 131591055 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	825	131
DICER1	23405	broad.mit.edu	37	14	95560313	95560313	+	Missense_Mutation	SNP	T	T	C	rs144259142		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95560313T>C	ENST00000526495.1	-	26	5567	c.5276A>G	c.(5275-5277)aAa>aGa	p.K1759R	DICER1_ENST00000393063.1_Missense_Mutation_p.K1759R|DICER1_ENST00000556045.1_Missense_Mutation_p.K657R|DICER1_ENST00000541352.1_Missense_Mutation_p.K1759R|DICER1_ENST00000527414.1_Missense_Mutation_p.K1759R|DICER1_ENST00000343455.3_Missense_Mutation_p.K1759R			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1759	RNase III 2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AGAGACAGCTTTGAAGTACTT	0.493		NA	Mis F, N		sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	dicer 1, ribonuclease type III 		E, M, O	0								T	ARG/LYS,ARG/LYS,ARG/LYS	1,4405	2.1+/-5.4	0,1,2202	145	135	138		5276,5276,5276	5.3	0.7	14	dbSNP_134	138	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	DICER1	NM_001195573.1,NM_030621.3,NM_177438.2	26,26,26	0,2,6501	CC,CT,TT	NA	0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging	1759/1830,1759/1923,1759/1923	95560313	2,13004	2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697	23405	23405			17098	protein-coding gene	gene with protein product	dicer 1, double-stranded RNA-specific endoribonuclease	606241	Dicer1, Dcr-1 homolog (Drosophila), multinodular goitre 1	MNG1	NA	10051563, 10786632, 21205968	Standard		NM_177438	NA	Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5276A>G	14.37:g.95560313T>C	ENSP00000437256:p.Lys1759Arg	NA	A7E2D3|O95943|Q9UQ02	37	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	T	15.64	2.893633	0.52121	2.27E-4	1.16E-4	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	5.29	5.29	0.74685	Ribonuclease III (5);	0.000000	0.85682	D	0.000000	T	0.68641	0.3023	N	0.04994	-0.135	0.80722	D	1	B;D	0.76494	0.301;0.999	B;D	0.83275	0.144;0.996	T	0.65479	-0.6158	10	0.02654	T	1	-26.0429	15.2459	0.73507	0.0:0.0:0.0:1.0	.	657;1759	B3KRG4;Q9UPY3	.;DICER_HUMAN	R	1759;1759;1759;1759;657;1759	ENSP00000343745:K1759R;ENSP00000437256:K1759R;ENSP00000376783:K1759R;ENSP00000435681:K1759R;ENSP00000451041:K657R;ENSP00000444719:K1759R	ENSP00000343745:K1759R	K	-	2	0	DICER1	94630066	1.000000	0.71417	0.738000	0.30950	0.984000	0.73092	7.630000	0.83225	1.998000	0.58463	0.533000	0.62120	AAA	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387997.1		-	ENST00000526495.1	Missense_Mutation	SNP	14 : 95560313 - 95560313 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	623	118
MUC16	94025	broad.mit.edu	37	19	8973992	8973992	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8973992G>T	ENST00000397910.4	-	76	42882	c.42679C>A	c.(42679-42681)Ctg>Atg	p.L14227M	MUC16_ENST00000380951.5_Missense_Mutation_p.L868M|MUC16_ENST00000596956.1_5'UTR	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14290				Missing (in Ref. 3; AAK74120).	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						ATGTCCCTCAGCAGGGTGATG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	109	108			NA	NA	19		NA											NA				8973992		1982	4158	6140	SO:0001583	missense			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.42679C>A	19.37:g.8973992G>T	ENSP00000381008:p.Leu14227Met	NA	Q6ZQW5|Q96RK2	37	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.859|8.859	0.946373|0.946373	0.18356|0.18356	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.32988	.|1.43;1.43	4.57|4.57	0.89|0.89	0.19218|0.19218	.|SEA (1);	.|1.613830	.|0.04579	.|N	.|0.394628	.|T	.|0.57533	.|0.2060	M|M	0.85542|0.85542	2.76|2.76	.|.	.|.	.|.	.|B;D	.|0.58970	.|0.245;0.984	.|B;D	.|0.73708	.|0.126;0.981	.|T	.|0.40403	.|-0.9565	.|9	.|0.34782	.|T	.|0.22	.|.	7.68|7.68	0.28507|0.28507	0.0:0.3544:0.4759:0.1697|0.0:0.3544:0.4759:0.1697	.|.	.|21872;14227	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	X|M	1049|14227;868	.|ENSP00000381008:L14227M;ENSP00000370338:L868M	.|ENSP00000370338:L868M	C|L	-|-	3|1	2|2	MUC16|MUC16	8834992|8834992	0.000000|0.000000	0.05858|0.05858	0.272000|0.272000	0.24630|0.24630	0.054000|0.054000	0.15201|0.15201	-0.019000|-0.019000	0.12546|0.12546	0.190000|0.190000	0.20209|0.20209	0.609000|0.609000	0.83330|0.83330	TGC|CTG	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Missense_Mutation	SNP	19 : 8973992 - 8973992 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	83	15
E2F7	144455	broad.mit.edu	37	12	77423632	77423632	+	Silent	SNP	C	C	T	rs140294649		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:77423632C>T	ENST00000322886.7	-	10	2098	c.1863G>A	c.(1861-1863)ccG>ccA	p.P621P	E2F7_ENST00000416496.2_Silent_p.P621P	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	621					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CAAGCGACAGCGGGCCGTCTT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		3,4403	6.2+/-15.9	0,3,2200	103	95	98		1863	-9.9	0	12	dbSNP_134	98	0,8600		0,0,4300	no	coding-synonymous	E2F7	NM_203394.2		0,3,6500	TT,TC,CC	NA	0.0,0.0681,0.0231		621/912	77423632	3,13003	2203	4300	6503	SO:0001819	synonymous_variant			BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891	144455	144455			23820	protein-coding gene	gene with protein product		612046			NA	12893818	Standard	XM_084871	NM_203394	NA	Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.1863G>A	12.37:g.77423632C>T		NA	A6NC74|B2RMR7|B3KUP8	37	CCDS9016.1																																																																																			E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406716.1		-	ENST00000322886.7	Silent	SNP	12 : 77423632 - 77423632 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	426	72
STXBP5L	9515	broad.mit.edu	37	3	121126378	121126378	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121126378C>T	ENST00000273666.6	+	24	3219	c.2948C>T	c.(2947-2949)gCa>gTa	p.A983V	STXBP5L_ENST00000497029.1_Missense_Mutation_p.A957V|STXBP5L_ENST00000492541.1_Missense_Mutation_p.A983V|STXBP5L_ENST00000472879.1_Missense_Mutation_p.A959V|STXBP5L_ENST00000471454.1_Missense_Mutation_p.A959V	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	983					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ATACTGCAAGCAAATGTGGTG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	130	133			NA	NA	3		NA											NA				121126378		1956	4162	6118	SO:0001583	missense			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087	9515	9515		WD repeat domain containing	30757	protein-coding gene	gene with protein product		609381			NA	10231032, 14767561	Standard		NM_014980	NA	Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2948C>T	3.37:g.121126378C>T	ENSP00000273666:p.Ala983Val	NA	Q4G1B4|Q6PIC3	37	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	34	5.345014	0.95807	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.59906	1.82;1.33;1.33;1.33;1.33;0.23	5.33	5.33	0.75918	Lethal giant larvae (Lgl)-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.74884	0.3775	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.69335	-0.5172	10	0.21014	T	0.42	-19.0912	19.3769	0.94514	0.0:1.0:0.0:0.0	.	959;983	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	V	983;959;959;957;983;926	ENSP00000273666:A983V;ENSP00000420019:A959V;ENSP00000419627:A959V;ENSP00000420287:A957V;ENSP00000420666:A983V;ENSP00000420167:A926V	ENSP00000273666:A983V	A	+	2	0	STXBP5L	122609068	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.445000	0.80570	2.660000	0.90430	0.650000	0.86243	GCA	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355256.3		+	ENST00000273666.6	Missense_Mutation	SNP	3 : 121126378 - 121126378 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	457	17
OR52N2	390077	broad.mit.edu	37	11	5842359	5842359	+	Missense_Mutation	SNP	G	G	A	rs150750582		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5842359G>A	ENST00000317037.2	+	1	816	c.794G>A	c.(793-795)cGt>cAt	p.R265H	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R265H(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCACTCATCGTTTTGTAGGA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	pancreas(1)						G	HIS/ARG	0,4402		0,0,2201	200	161	174		794	4.2	0.5	11	dbSNP_134	174	1,8591	1.2+/-3.3	0,1,4295	yes	missense	OR52N2	NM_001005174.1	29	0,1,6496	AA,AG,GG	NA	0.0116,0.0,0.0077	possibly-damaging	265/322	5842359	1,12993	2201	4296	6497	SO:0001583	missense			AB065816	CCDS31399.1	11p15.4	2012-08-09			ENSG00000180988	ENSG00000180988	390077	390077		GPCR / Class A : Olfactory receptors	15228	protein-coding gene	gene with protein product					NA		Standard	NM_001005174	NM_001005174	NA	Approved		uc010qzp.2	Q8NGI0	OTTHUMG00000168801	ENST00000317037.2:c.794G>A	11.37:g.5842359G>A	ENSP00000322801:p.Arg265His	NA	Q6IFF9	37	CCDS31399.1	.	.	.	.	.	.	.	.	.	.	G	7.467	0.645803	0.14451	0.0	1.16E-4	ENSG00000180988	ENST00000317037	T	0.00130	8.69	6.09	4.22	0.49857	GPCR, rhodopsin-like superfamily (1);	0.116572	0.39544	N	0.001333	T	0.00271	0.0008	M	0.85859	2.78	0.20196	N	0.999924	B	0.15719	0.014	B	0.23275	0.045	T	0.38499	-0.9658	10	0.66056	D	0.02	.	15.0853	0.72148	0.1298:0.0:0.8702:0.0	.	265	Q8NGI0	O52N2_HUMAN	H	265	ENSP00000322801:R265H	ENSP00000322801:R265H	R	+	2	0	OR52N2	5798935	0.026000	0.19158	0.498000	0.27564	0.003000	0.03518	1.478000	0.35442	0.473000	0.27368	-0.829000	0.03081	CGT	OR52N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401143.1		+	ENST00000317037.2	Missense_Mutation	SNP	11 : 5842359 - 5842359 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	625	115
RREB1	6239	broad.mit.edu	37	6	7211110	7211110	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7211110C>T	ENST00000379938.2	+	7	1036	c.499C>T	c.(499-501)Cga>Tga	p.R167*	RREB1_ENST00000334984.6_Nonsense_Mutation_p.R167*|RREB1_ENST00000349384.6_Nonsense_Mutation_p.R167*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.R167*	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	167					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GAAACGTAGGCGATTGTCCTC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	130	133			NA	NA	6		NA											NA				7211110		2203	4300	6503	SO:0001587	stop_gained			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782	6239	6239		Zinc fingers, C2H2-type	10449	protein-coding gene	gene with protein product	hindsight homolog (drosophila)	602209			NA	9367691, 18394891	Standard		NM_001003698	NA	Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000379938.2:c.499C>T	6.37:g.7211110C>T	ENSP00000369270:p.Arg167*	NA	A2RRF5|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	37	CCDS34335.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427465	0.83667	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	.	.	.	5.29	4.41	0.53225	.	0.000000	0.50627	D	0.000110	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-39.4759	12.2018	0.54331	0.3093:0.6907:0.0:0.0	.	.	.	.	X	167	.	ENSP00000335574:R167X	R	+	1	2	RREB1	7156109	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	2.004000	0.40854	1.228000	0.43614	0.585000	0.79938	CGA	RREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039774.3		+	ENST00000379938.2	Nonsense_Mutation	SNP	6 : 7211110 - 7211110 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	687	122
HOXB8	3218	broad.mit.edu	37	17	46691677	46691677	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46691677C>T	ENST00000239144.4	-	1	624	c.390G>A	c.(388-390)tcG>tcA	p.S130S	HOXB8_ENST00000576562.1_Silent_p.S130S|HOXB7_ENST00000567101.2_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	130						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						GCTGTGTGGGCGACGGGCTCT	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													9	11	10			NA	NA	17		NA											NA				46691677		2146	4227	6373	SO:0001819	synonymous_variant				CCDS11533.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120068	ENSG00000120068	3218	3218		Homeoboxes / ANTP class : HOXL subclass	5119	protein-coding gene	gene with protein product		142963	homeo box B8	HOX2, HOX2D	NA	1973146, 1358459	Standard		XM_005257286	NA	Approved		uc002inw.3	P17481	OTTHUMG00000159904	ENST00000239144.4:c.390G>A	17.37:g.46691677C>T		NA	Q9H1I2	37	CCDS11533.1																																																																																			HOXB8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358092.3		-	ENST00000239144.4	Silent	SNP	17 : 46691677 - 46691677 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	137	25
CCDC13	152206	broad.mit.edu	37	3	42777266	42777266	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42777266G>A	ENST00000310232.6	-	10	1387	c.1304C>T	c.(1303-1305)gCc>gTc	p.A435V	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	435										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						AGCTACCATGGCCTGCAGCTG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	96	101			NA	NA	3		NA											NA				42777266		2203	4300	6503	SO:0001583	missense			AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607	152206	152206			26358	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_144719	NM_144719	NA	Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1304C>T	3.37:g.42777266G>A	ENSP00000309836:p.Ala435Val	NA		37	CCDS2705.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.581586	0.28180	.	.	ENSG00000244607	ENST00000310232	T	0.24538	1.85	4.76	3.78	0.43462	.	0.732062	0.12831	N	0.435649	T	0.28300	0.0699	L	0.56769	1.78	0.24385	N	0.994771	P	0.46512	0.879	B	0.43536	0.423	T	0.08229	-1.0732	10	0.30078	T	0.28	.	11.422	0.49987	0.0:0.0:0.7064:0.2935	.	435	Q8IYE1	CCD13_HUMAN	V	435	ENSP00000309836:A435V	ENSP00000309836:A435V	A	-	2	0	CCDC13	42752270	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	2.925000	0.48884	2.202000	0.70862	0.511000	0.50034	GCC	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256652.1		-	ENST00000310232.6	Missense_Mutation	SNP	3 : 42777266 - 42777266 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	613	91
BIRC6	57448	broad.mit.edu	37	2	32673919	32673919	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32673919G>T	ENST00000421745.2	+	22	4675	c.4541G>T	c.(4540-4542)gGc>gTc	p.G1514V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1514					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GAGATGAGTGGCTCTTCTTGT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(94;175 1509 16028 18060 45422)							NA				0													128	130	129			NA	NA	2		NA											NA				32673919		2203	4300	6503	SO:0001583	missense			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760	57448	57448		Baculoviral IAP repeat containing, Ubiquitin-conjugating enzymes E2	13516	protein-coding gene	gene with protein product	apollon	605638	baculoviral IAP repeat-containing 6		NA	10544019	Standard	NM_016252	NM_016252	NA	Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.4541G>T	2.37:g.32673919G>T	ENSP00000393596:p.Gly1514Val	NA	Q9ULD1	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359955	0.61403	.	.	ENSG00000115760	ENST00000421745	T	0.74842	-0.88	5.61	5.61	0.85477	.	0.132026	0.50627	D	0.000106	T	0.78181	0.4243	L	0.38838	1.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70510	-0.4852	10	0.02654	T	1	.	17.8175	0.88639	0.0:0.0:1.0:0.0	.	1514	Q9NR09	BIRC6_HUMAN	V	1514	ENSP00000393596:G1514V	ENSP00000393596:G1514V	G	+	2	0	BIRC6	32527423	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.809000	0.99208	2.633000	0.89246	0.585000	0.79938	GGC	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318769.3		+	ENST00000421745.2	Missense_Mutation	SNP	2 : 32673919 - 32673919 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	389	22
TNFRSF19	55504	broad.mit.edu	37	13	24242173	24242173	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24242173C>T	ENST00000382263.3	+	8	975	c.791C>T	c.(790-792)cCg>cTg	p.P264L	TNFRSF19_ENST00000382258.4_Missense_Mutation_p.P264L|TNFRSF19_ENST00000403372.2_Missense_Mutation_p.P132L|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.P264L	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	264					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)		AGCCCCAACCCGGCGACTCTT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	1,4405		0,1,2202	50	45	47		791,791,395,791	-1.9	0	13		47	0,8600		0,0,4300	no	missense,missense,missense,missense	TNFRSF19	NM_148957.3,NM_018647.3,NM_001204459.1,NM_001204458.1	98,98,98,98	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	benign,benign,benign,benign	264/418,264/424,132/286,264/418	24242173	1,13005	2203	4300	6503	SO:0001583	missense			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.791C>T	13.37:g.24242173C>T	ENSP00000371698:p.Pro264Leu	NA	B1AM40|B1AM41|Q9BXZ9|Q9BY00|Q9NZV2	37	CCDS9301.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066955	0.36470	2.27E-4	0.0	ENSG00000127863	ENST00000248484;ENST00000403372;ENST00000382258;ENST00000382263	T;T;T;T	0.76709	-1.04;1.54;-1.04;-1.04	5.71	-1.91	0.07641	.	1.309070	0.04834	N	0.439242	T	0.62429	0.2427	N	0.22421	0.69	0.09310	N	1	B;B;B	0.24920	0.003;0.114;0.114	B;B;B	0.15052	0.0;0.012;0.012	T	0.52215	-0.8605	10	0.56958	D	0.05	-4.2253	6.0373	0.19714	0.5379:0.2781:0.184:0.0	.	132;264;264	B4E2I6;Q9NS68;Q9NS68-2	.;TNR19_HUMAN;.	L	264;132;264;264	ENSP00000248484:P264L;ENSP00000385408:P132L;ENSP00000371693:P264L;ENSP00000371698:P264L	ENSP00000248484:P264L	P	+	2	0	TNFRSF19	23140173	0.006000	0.16342	0.000000	0.03702	0.002000	0.02628	0.440000	0.21592	-0.097000	0.12307	-0.128000	0.14901	CCG	TNFRSF19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044157.2		+	ENST00000382263.3	Missense_Mutation	SNP	13 : 24242173 - 24242173 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	78	15
PNN	5411	broad.mit.edu	37	14	39650344	39650344	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:39650344G>A	ENST00000216832.4	+	9	1498	c.1431G>A	c.(1429-1431)caG>caA	p.Q477Q	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	477	Gln-rich.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		CTcaacctcagcctcagtctc	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	44	44			NA	NA	14		NA											NA				39650344		2203	4300	6503	SO:0001819	synonymous_variant			U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941	5411	5411			9162	protein-coding gene	gene with protein product		603154			NA	8922384	Standard	NM_002687	NM_002687	NA	Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.1431G>A	14.37:g.39650344G>A		NA	B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	37	CCDS9671.1																																																																																			PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276776.2		+	ENST00000216832.4	Silent	SNP	14 : 39650344 - 39650344 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	316	61
LPCAT3	10162	broad.mit.edu	37	12	7091893	7091893	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7091893G>T	ENST00000261407.4	-	3	395	c.310C>A	c.(310-312)Ctt>Att	p.L104I		NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	104					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						ATTAGTCGAAGGATGAGGAAC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													170	143	152			NA	NA	12		NA											NA				7091893		2203	4300	6503	SO:0001583	missense			U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684	10162	10162			30244	protein-coding gene	gene with protein product		611950	O-acyltransferase (membrane bound) domain containing 5, membrane bound O-acyltransferase domain containing 5	OACT5, MBOAT5	NA	8723724, 9074930, 18195019	Standard	NM_005768	NM_005768	NA	Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.310C>A	12.37:g.7091893G>T	ENSP00000261407:p.Leu104Ile	NA	B2RDH0|Q7KZS1|Q92980|Q9BW40	37	CCDS8572.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110867	0.77210	.	.	ENSG00000111684	ENST00000261407	T	0.71934	-0.61	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.75250	0.3824	M	0.64170	1.965	0.58432	D	0.999999	D	0.62365	0.991	P	0.51016	0.656	T	0.70464	-0.4864	10	0.17369	T	0.5	-8.131	19.1278	0.93393	0.0:0.0:1.0:0.0	.	104	Q6P1A2	MBOA5_HUMAN	I	104	ENSP00000261407:L104I	ENSP00000261407:L104I	L	-	1	0	LPCAT3	6962154	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.477000	0.60223	2.756000	0.94617	0.561000	0.74099	CTT	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401812.1		-	ENST00000261407.4	Missense_Mutation	SNP	12 : 7091893 - 7091893 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	227	29
NFAT5	10725	broad.mit.edu	37	16	69725929	69725929	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69725929C>T	ENST00000354436.2	+	12	2465	c.2147C>T	c.(2146-2148)aCt>aTt	p.T716I	NFAT5_ENST00000567239.1_Missense_Mutation_p.T733I|NFAT5_ENST00000432919.1_Missense_Mutation_p.T734I|NFAT5_ENST00000349945.1_Missense_Mutation_p.T640I|NFAT5_ENST00000566899.1_Missense_Mutation_p.T640I|NFAT5_ENST00000393742.2_Missense_Mutation_p.T640I	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	716					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ACAAGAGAAACTCAGTCTAGA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	109	112			NA	NA	16		NA											NA				69725929		2198	4300	6498	SO:0001583	missense			AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908	10725	10725		Nuclear factor of activated T-cells	7774	protein-coding gene	gene with protein product		604708			NA	10377394	Standard	NM_138714	NM_173214	NA	Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2147C>T	16.37:g.69725929C>T	ENSP00000346420:p.Thr716Ile	NA	A6H8V5|O95693|Q9UN18	37	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.537703	0.45176	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	6.08	5.12	0.69794	.	0.847763	0.11135	N	0.595942	T	0.31167	0.0788	N	0.14661	0.345	0.24227	N	0.995411	B;B;B	0.18166	0.016;0.016;0.026	B;B;B	0.17979	0.009;0.009;0.02	T	0.20907	-1.0261	10	0.32370	T	0.25	-1.521	16.105	0.81213	0.0:0.6288:0.3712:0.0	.	733;716;734	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	I	734;733;640;716;640	ENSP00000396538:T734I;ENSP00000338806:T640I;ENSP00000346420:T716I;ENSP00000377343:T640I	ENSP00000338806:T640I	T	+	2	0	NFAT5	68283430	0.050000	0.20438	0.968000	0.41197	0.967000	0.64934	1.052000	0.30429	1.556000	0.49512	0.655000	0.94253	ACT	NFAT5-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268952.2		+	ENST00000354436.2	Missense_Mutation	SNP	16 : 69725929 - 69725929 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	399	70
MAP6	4135	broad.mit.edu	37	11	75316859	75316859	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75316859G>A	ENST00000434603.2	-	3	1374	c.1310C>T	c.(1309-1311)gCg>gTg	p.A437V	MAP6_ENST00000304771.3_Missense_Mutation_p.A437V|MAP6_ENST00000526740.1_Missense_Mutation_p.A108V	NM_207577.1	NP_997460.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	437						Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					TTACTCTTTCGCCTCAGCCAG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(181;1115 2007 8647 17065 22697)							NA				0													154	127	136			NA	NA	11		NA											NA				75316859		2200	4293	6493	SO:0001583	missense			AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533	4135	4135			6868	protein-coding gene	gene with protein product		601783			NA	10516426, 12231625	Standard	NM_033063	NM_207577	NA	Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000434603.2:c.1310C>T	11.37:g.75316859G>A	ENSP00000415108:p.Ala437Val	NA	A7E2A1|Q6P3T0	37	CCDS44686.1	.	.	.	.	.	.	.	.	.	.	G	33	5.265520	0.95399	.	.	ENSG00000171533	ENST00000304771;ENST00000526740;ENST00000545476;ENST00000434603	T;T	0.72051	-0.62;-0.02	5.39	5.39	0.77823	.	0.000000	0.47455	D	0.000227	D	0.83658	0.5302	M	0.70275	2.135	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	D	0.83901	0.0290	10	0.52906	T	0.07	-18.7907	18.0851	0.89455	0.0:0.0:1.0:0.0	.	437	Q96JE9	MAP6_HUMAN	V	437;108;108;437	ENSP00000307093:A437V;ENSP00000415108:A437V	ENSP00000307093:A437V	A	-	2	0	MAP6	74994507	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.420000	0.97426	2.676000	0.91093	0.655000	0.94253	GCG	MAP6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383541.1		-	ENST00000434603.2	Missense_Mutation	SNP	11 : 75316859 - 75316859 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	779	140
TAAR8	83551	broad.mit.edu	37	6	132873992	132873992	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132873992C>T	ENST00000275200.1	+	1	161	c.161C>T	c.(160-162)aCt>aTt	p.T54I		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	54						plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TTAGTAATGACTTCTGTTCTT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													192	195	194			NA	NA	6		NA											NA				132873992		2203	4300	6503	SO:0001583	missense			AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385	83551	83551		GPCR / Class A : Trace amine associated receptors	14964	protein-coding gene	gene with protein product		606927	trace amine receptor 5	GPR102, TRAR5	NA	11574155, 15718104	Standard	NM_053278	NM_053278	NA	Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.161C>T	6.37:g.132873992C>T	ENSP00000275200:p.Thr54Ile	NA	Q5VUQ0	37	CCDS5154.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.521401	0.00967	.	.	ENSG00000146385	ENST00000275200	T	0.35048	1.33	4.72	-1.44	0.08856	GPCR, rhodopsin-like superfamily (1);	0.762462	0.11154	N	0.593777	T	0.02494	0.0076	N	0.01003	-1.06	0.20307	N	0.999914	B	0.02656	0.0	B	0.11329	0.006	T	0.47032	-0.9148	10	0.02654	T	1	-2.5206	10.2876	0.43577	0.0:0.1991:0.0:0.8009	.	54	Q969N4	TAAR8_HUMAN	I	54	ENSP00000275200:T54I	ENSP00000275200:T54I	T	+	2	0	TAAR8	132915685	0.000000	0.05858	0.037000	0.18230	0.579000	0.36224	-0.075000	0.11431	-0.328000	0.08539	0.655000	0.94253	ACT	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042262.1		+	ENST00000275200.1	Missense_Mutation	SNP	6 : 132873992 - 132873992 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1326	228
DHX40	79665	broad.mit.edu	37	17	57651186	57651186	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57651186C>T	ENST00000251241.4	+	5	779	c.632C>T	c.(631-633)gCa>gTa	p.A211V	DHX40_ENST00000451169.2_Missense_Mutation_p.A112V|DHX40_ENST00000425628.3_Missense_Mutation_p.A134V	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	211	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GTAATGTCAGCAACTATGGAA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	56	56			NA	NA	17		NA											NA				57651186		2203	4300	6503	SO:0001583	missense			AF260270	CCDS11617.1, CCDS54150.1	17q22	2014-01-28	2003-06-13	2003-06-20		ENSG00000108406	79665	79665		DEAH-boxes	18018	protein-coding gene	gene with protein product		607570	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)	DDX40	NA		Standard	NM_024612	NM_024612	NA	Approved	ARG147, PAD, FLJ22060	uc002ixn.2	Q8IX18		ENST00000251241.4:c.632C>T	17.37:g.57651186C>T	ENSP00000251241:p.Ala211Val	NA	B3KTJ5|Q5JPH4|Q8TC86|Q8WY53|Q9BXM1|Q9H6M9	37	CCDS11617.1	.	.	.	.	.	.	.	.	.	.	C	35	5.416047	0.96092	.	.	ENSG00000108406	ENST00000251241;ENST00000538926;ENST00000425628;ENST00000451169	T;T	0.59772	0.24;0.24	5.56	5.56	0.83823	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85639	0.5743	H	0.97516	4.02	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.956	D	0.90169	0.4234	10	0.87932	D	0	.	19.8835	0.96906	0.0:1.0:0.0:0.0	.	134;211	F5H625;Q8IX18	.;DHX40_HUMAN	V	211;134;211;112	ENSP00000251241:A211V;ENSP00000396039:A112V	ENSP00000251241:A211V	A	+	2	0	DHX40	55005968	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.277000	0.78572	2.777000	0.95525	0.655000	0.94253	GCA	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000446095.1		+	ENST00000251241.4	Missense_Mutation	SNP	17 : 57651186 - 57651186 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	443	63
TUBGCP2	10844	broad.mit.edu	37	10	135095825	135095825	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135095825A>G	ENST00000252936.3	-	15	2350	c.2311T>C	c.(2311-2313)Tta>Cta	p.L771L	TUBGCP2_ENST00000417178.2_Silent_p.L641L|TUBGCP2_ENST00000368562.1_Silent_p.L364L|TUBGCP2_ENST00000543663.1_Silent_p.L799L|TUBGCP2_ENST00000368563.2_Silent_p.L771L			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	771					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		TCGCCATCTAATTTCATGCTC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	24	22			NA	NA	10		NA											NA				135095825		2199	4299	6498	SO:0001819	synonymous_variant			AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640	10844	10844			18599	protein-coding gene	gene with protein product					NA	9566967	Standard		NM_001256617	NA	Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.2311T>C	10.37:g.135095825A>G		NA	O43632|Q5VWX7	37	CCDS7676.1																																																																																			TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051148.1		-	ENST00000252936.3	Silent	SNP	10 : 135095825 - 135095825 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	186	35
TCF20	6942	broad.mit.edu	37	22	42605786	42605786	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42605786G>T	ENST00000359486.3	-	1	5662	c.5526C>A	c.(5524-5526)atC>atA	p.I1842I	TCF20_ENST00000404876.1_Silent_p.I143I|TCF20_ENST00000335626.4_Silent_p.I1842I	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1842					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GTAGTTCAGGGATTTGTAACT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	145	145			NA	NA	22		NA											NA				42605786		2203	4300	6503	SO:0001819	synonymous_variant			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207	6942	6942			11631	protein-coding gene	gene with protein product	stromelysin-1 platelet-derived growth factor-responsive element binding protein	603107			NA	9730594, 10995766	Standard	NM_181492	NM_005650	NA	Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5526C>A	22.37:g.42605786G>T		NA	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	37	CCDS14033.1																																																																																			TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320531.1		-	ENST00000359486.3	Silent	SNP	22 : 42605786 - 42605786 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	855	34
ZNF831	128611	broad.mit.edu	37	20	57766263	57766263	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57766263C>T	ENST00000371030.2	+	1	189	c.189C>T	c.(187-189)taC>taT	p.Y63Y		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	63	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCCCACTGTACCACACGGTGC	0.697		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	20		NA											NA				57766263		1875	4076	5951	SO:0001819	synonymous_variant			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203	128611	128611			16167	protein-coding gene	gene with protein product			chromosome 20 open reading frame 174	C20orf174	NA		Standard	NM_178457	NM_178457	NA	Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.189C>T	20.37:g.57766263C>T		NA	Q5TDR4|Q8TCP0	37	CCDS42894.1																																																																																			ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079916.2		+	ENST00000371030.2	Silent	SNP	20 : 57766263 - 57766263 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	190	34
MUC5B	727897	broad.mit.edu	37	11	1262147	1262147	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1262147G>T	ENST00000529681.1	+	31	4095	c.4037G>T	c.(4036-4038)gGg>gTg	p.G1346V	MUC5B_ENST00000447027.1_Missense_Mutation_p.G1349V	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1346	7 X Cys-rich subdomain repeats.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGGTACAATGGGCACCGCCCA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	29	28			NA	NA	11		NA											NA				1262147		1979	4156	6135	SO:0001583	missense			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983	727897	727897		Mucins	7516	protein-coding gene	gene with protein product		600770	mucin 5, subtype B, tracheobronchial	MUC5	NA	9804771	Standard	XM_001126093	NM_002458	NA	Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.4037G>T	11.37:g.1262147G>T	ENSP00000436812:p.Gly1346Val	NA	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	7.320	0.616679	0.14129	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.15952	2.38;2.38	3.62	0.494	0.16884	.	.	.	.	.	T	0.07007	0.0178	N	0.04090	-0.28	0.09310	N	1	B;B	0.29909	0.261;0.261	B;B	0.30251	0.103;0.113	T	0.32268	-0.9913	9	0.87932	D	0	.	3.0683	0.06221	0.09:0.1427:0.3309:0.4364	.	2039;1349	A7Y9J9;E9PBJ0	.;.	V	1346;1349;1347;1416	ENSP00000436812:G1346V;ENSP00000415793:G1349V	ENSP00000343037:G1347V	G	+	2	0	MUC5B	1218723	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-1.920000	0.01571	-0.086000	0.12550	0.313000	0.20887	GGG	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390041.2		+	ENST00000529681.1	Missense_Mutation	SNP	11 : 1262147 - 1262147 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	217	21
RALGPS1	9649	broad.mit.edu	37	9	129958828	129958828	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129958828C>T	ENST00000259351.5	+	13	1380	c.1113C>T	c.(1111-1113)gaC>gaT	p.D371D	RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	371					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						ACCTACTGGACGACAGTGTCC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	158	164			NA	NA	9		NA											NA				129958828		2203	4300	6503	SO:0001819	synonymous_variant			AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828	9649	9649		Pleckstrin homology (PH) domain containing	16851	protein-coding gene	gene with protein product		614444			NA	9205841, 10747847	Standard	NM_014636	NM_001190728	NA	Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.1113C>T	9.37:g.129958828C>T		NA	O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	37	CCDS35143.1																																																																																			RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054133.1		+	ENST00000259351.5	Silent	SNP	9 : 129958828 - 129958828 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	505	83
CLIP3	25999	broad.mit.edu	37	19	36517509	36517509	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36517509G>T	ENST00000360535.4	-	5	768	c.541C>A	c.(541-543)Ctg>Atg	p.L181M	CLIP3_ENST00000593074.1_Missense_Mutation_p.L181M|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	181					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCACCCTTCAGCAGCACACGC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	48	50			NA	NA	19		NA											NA				36517509		2203	4300	6503	SO:0001583	missense			AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270	25999	25999		Ankyrin repeat domain containing	24314	protein-coding gene	gene with protein product	CLIP-170-related, restin-like 1	607382			NA	11854307	Standard	NM_015526	NM_015526	NA	Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.541C>A	19.37:g.36517509G>T	ENSP00000353732:p.Leu181Met	NA	A8K0E4|Q8WWL1|Q96C99|Q9UFT7	37	CCDS12486.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160054	0.78226	.	.	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	T	0.72505	-0.66	4.59	4.59	0.56863	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000004	D	0.83459	0.5259	M	0.87456	2.885	0.49687	D	0.999814	D	0.76494	0.999	D	0.87578	0.998	D	0.84463	0.0595	10	0.54805	T	0.06	-9.9424	8.5079	0.33199	0.1034:0.0:0.8966:0.0	.	181	Q96DZ5	CLIP3_HUMAN	M	181;63;157	ENSP00000353732:L181M	ENSP00000353732:L181M	L	-	1	2	CLIP3	41209349	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.996000	0.49449	2.382000	0.81193	0.455000	0.32223	CTG	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457426.1		-	ENST00000360535.4	Missense_Mutation	SNP	19 : 36517509 - 36517509 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	273	38
DICER1	23405	broad.mit.edu	37	14	95571439	95571439	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95571439C>T	ENST00000526495.1	-	22	3529	c.3238G>A	c.(3238-3240)Gtg>Atg	p.V1080M	DICER1_ENST00000393063.1_Missense_Mutation_p.V1080M|DICER1_ENST00000556045.1_Silent_p.A3A|DICER1_ENST00000541352.1_Missense_Mutation_p.V1080M|DICER1_ENST00000527414.1_Missense_Mutation_p.V1080M|DICER1_ENST00000343455.3_Missense_Mutation_p.V1080M			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1080					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CTGACTCCCACGCCAGCATCG	0.488		NA	Mis F, N		sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	dicer 1, ribonuclease type III 		E, M, O	0													97	100	99			NA	NA	14		NA											NA				95571439		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697	23405	23405			17098	protein-coding gene	gene with protein product	dicer 1, double-stranded RNA-specific endoribonuclease	606241	Dicer1, Dcr-1 homolog (Drosophila), multinodular goitre 1	MNG1	NA	10051563, 10786632, 21205968	Standard		NM_177438	NA	Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.3238G>A	14.37:g.95571439C>T	ENSP00000437256:p.Val1080Met	NA	A7E2D3|O95943|Q9UQ02	37	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539243	0.85917	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.4	5.65	4.74	0.60224	.	0.059006	0.64402	D	0.000002	T	0.69024	0.3065	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	P	0.62435	0.902	T	0.72207	-0.4360	10	0.62326	D	0.03	-15.7828	16.3846	0.83500	0.0:0.868:0.132:0.0	.	1080	Q9UPY3	DICER_HUMAN	M	1080	ENSP00000343745:V1080M;ENSP00000437256:V1080M;ENSP00000376783:V1080M;ENSP00000435681:V1080M;ENSP00000444719:V1080M	ENSP00000343745:V1080M	V	-	1	0	DICER1	94641192	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	7.786000	0.85741	1.343000	0.45638	0.462000	0.41574	GTG	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387997.1		-	ENST00000526495.1	Missense_Mutation	SNP	14 : 95571439 - 95571439 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	676	34
MCM2	4171	broad.mit.edu	37	3	127339940	127339940	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127339940C>T	ENST00000265056.7	+	15	2717	c.2473C>T	c.(2473-2475)Cgg>Tgg	p.R825W	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	825					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	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	p.R825W(1)		ovary(3)|skin(2)|stomach(1)	6						CCTTTCATTCCGGCGTGACAA	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)	skin(1)											137	133	134			NA	NA	3		NA											NA				127339940		2203	4300	6503	SO:0001583	missense			X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111	4171	4171			6944	protein-coding gene	gene with protein product	mitotin	116945	minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin), MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)	CCNL1, CDCL1	NA	1710453, 8258304	Standard		NM_004526	NA	Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.2473C>T	3.37:g.127339940C>T	ENSP00000265056:p.Arg825Trp	NA	Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	37	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935240	0.73442	.	.	ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142	T	0.02525	4.26	5.38	4.5	0.54988	.	0.103066	0.64402	D	0.000007	T	0.12347	0.0300	M	0.76002	2.32	0.58432	D	0.999995	D;D;D	0.89917	1.0;0.99;0.975	D;P;P	0.72625	0.978;0.586;0.582	T	0.00235	-1.1892	10	0.87932	D	0	-21.8525	9.0803	0.36547	0.2869:0.5936:0.1195:0.0	.	875;695;825	F5H1E9;B4DSV5;P49736	.;.;MCM2_HUMAN	W	825;729;875	ENSP00000265056:R825W	ENSP00000265056:R825W	R	+	1	2	MCM2	128822630	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	1.833000	0.39161	1.240000	0.43803	0.591000	0.81541	CGG	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356612.1		+	ENST00000265056.7	Missense_Mutation	SNP	3 : 127339940 - 127339940 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1079	188
MYO3A	53904	broad.mit.edu	37	10	26432413	26432413	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26432413A>T	ENST00000265944.5	+	21	2465	c.2299A>T	c.(2299-2301)Att>Ttt	p.I767F	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	767	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGCTAGAGTTATTGAATATGA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	128	128			NA	NA	10		NA											NA				26432413		2203	4300	6503	SO:0001583	missense			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777	53904	53904		Myosins / Myosin superfamily : Class III	7601	protein-coding gene	gene with protein product		606808	deafness, autosomal recessive 30	DFNB30	NA	10936054	Standard	NM_017433	NM_017433	NA	Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2299A>T	10.37:g.26432413A>T	ENSP00000265944:p.Ile767Phe	NA	Q5VZ28|Q8WX17|Q9NYS8	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	A	19.99	3.929198	0.73327	.	.	ENSG00000095777	ENST00000265944	D	0.89552	-2.53	6.02	3.68	0.42216	Myosin head, motor domain (3);	0.043720	0.85682	D	0.000000	D	0.95124	0.8420	M	0.93241	3.395	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	D	0.94437	0.7655	10	0.87932	D	0	.	10.4349	0.44430	0.8684:0.0:0.1316:0.0	.	767	Q8NEV4	MYO3A_HUMAN	F	767	ENSP00000265944:I767F	ENSP00000265944:I767F	I	+	1	0	MYO3A	26472419	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.755000	0.55197	0.512000	0.28257	0.528000	0.53228	ATT	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047259.1		+	ENST00000265944.5	Missense_Mutation	SNP	10 : 26432413 - 26432413 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	45
UNC79	57578	broad.mit.edu	37	14	94155086	94155086	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94155086A>G	ENST00000553484.1	+	46	7322	c.7168A>G	c.(7168-7170)Att>Gtt	p.I2390V	UNC79_ENST00000555664.1_Missense_Mutation_p.I2329V|UNC79_ENST00000393151.2_Missense_Mutation_p.I2368V|UNC79_ENST00000256339.4_Missense_Mutation_p.I2191V			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2368						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCTGGCCCAGATTGCAGCCAT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	92	95			NA	NA	14		NA											NA				94155086		2203	4300	6503	SO:0001583	missense			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958	57578	57578			19966	protein-coding gene	gene with protein product			KIAA1409	KIAA1409	NA	20714347, 21040849	Standard	XM_028395	NM_020818	NA	Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000553484.1:c.7168A>G	14.37:g.94155086A>G	ENSP00000451360:p.Ile2390Val	NA	Q6ZUT7	37		.	.	.	.	.	.	.	.	.	.	A	12.22	1.873202	0.33069	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.18174	2.23;2.24;2.23;2.23	5.62	3.23	0.37069	.	0.099482	0.64402	N	0.000001	T	0.09512	0.0234	N	0.17082	0.46	0.40446	D	0.980091	B	0.09022	0.002	B	0.13407	0.009	T	0.21965	-1.0230	10	0.22706	T	0.39	-13.8712	8.4765	0.33016	0.8001:0.132:0.0679:0.0	.	2390	C9JQL1	.	V	2191;2329;2390;2368;2390	ENSP00000256339:I2191V;ENSP00000450868:I2329V;ENSP00000451360:I2390V;ENSP00000376858:I2368V	ENSP00000256339:I2191V	I	+	1	0	KIAA1409	93224839	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.221000	0.65272	0.487000	0.27698	0.459000	0.35465	ATT	UNC79-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000074289.4		+	ENST00000553484.1	Missense_Mutation	SNP	14 : 94155086 - 94155086 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	401	18
FAM193B	54540	broad.mit.edu	37	5	176959576	176959576	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176959576G>A	ENST00000514747.1	-	5	1191	c.1143C>T	c.(1141-1143)tgC>tgT	p.C381C	FAM193B_ENST00000443375.2_Silent_p.C268C|FAM193B_ENST00000508298.1_5'UTR|FAM193B_ENST00000329540.5_5'UTR	NM_001190946.1	NP_001177875.1	Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	57										kidney(1)|large_intestine(3)	4						CATCTGCCTCGCAGGGCTGGG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	24	23			NA	NA	5		NA											NA				176959576		2008	4183	6191	SO:0001819	synonymous_variant				CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067	54540	54540			25524	protein-coding gene	gene with protein product		615813			NA	11572484	Standard	NM_019057	NR_024019	NA	Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.1143C>T	5.37:g.176959576G>A		NA		37	CCDS54954.1																																																																																			FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373121.1		-	ENST00000514747.1	Silent	SNP	5 : 176959576 - 176959576 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	64	11
DDHD1	80821	broad.mit.edu	37	14	53518626	53518626	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:53518626C>T	ENST00000323669.5	-	12	2456	c.2457G>A	c.(2455-2457)tcG>tcA	p.S819S	DDHD1_ENST00000555621.1_Intron|DDHD1_ENST00000395606.1_Intron|DDHD1_ENST00000357758.3_Intron	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	819	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					GATTAAAGAACGATTCTTGAA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	75	78			NA	NA	14		NA											NA				53518626		1564	3580	5144	SO:0001819	synonymous_variant			AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523	NA	80821			19714	protein-coding gene	gene with protein product	phosphatidic acid-preferring phospholipase A1	614603	spastic paraplegia 28 (autosomal recessive)	SPG28	NA	11214970, 20359546	Standard		NM_030637	NA	Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.2457G>A	14.37:g.53518626C>T		NA	Q8WVH3|Q96LL2|Q9C0F8	37	CCDS53895.1																																																																																			DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276901.1		-	ENST00000323669.5	Silent	SNP	14 : 53518626 - 53518626 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	49	11
DTX1	1840	broad.mit.edu	37	12	113496015	113496015	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113496015C>T	ENST00000257600.3	+	1	521	c.18C>T	c.(16-18)caC>caT	p.H6H		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	6					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GGCCAGGCCACGGTGGGCTGA	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4398		0,0,2199	36	30	32		18	-1.5	0.9	12		32	1,8595		0,1,4297	no	coding-synonymous	DTX1	NM_004416.2		0,1,6496	TT,TC,CC	NA	0.0116,0.0,0.0077		6/621	113496015	1,12993	2199	4298	6497	SO:0001819	synonymous_variant			AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144	1840	1840			3060	protein-coding gene	gene with protein product		602582	deltex homolog 1 (Drosophila)		NA	9590294, 12670957	Standard		NM_004416	NA	Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.18C>T	12.37:g.113496015C>T		NA	O60630|Q9BS04	37	CCDS9164.1																																																																																			DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405045.2		+	ENST00000257600.3	Silent	SNP	12 : 113496015 - 113496015 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	157	36
ITPR1	3708	broad.mit.edu	37	3	4847865	4847865	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4847865C>A	ENST00000357086.4	+	52	7390	c.7042C>A	c.(7042-7044)Ctg>Atg	p.L2348M	ITPR1_ENST00000443694.2_Missense_Mutation_p.L2381M|ITPR1_ENST00000456211.2_Missense_Mutation_p.L2333M|ITPR1_ENST00000544951.1_Missense_Mutation_p.L359M|ITPR1_ENST00000302640.8_Missense_Mutation_p.L2381M|ITPR1_ENST00000423119.2_Missense_Mutation_p.L2348M|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000354582.6_Missense_Mutation_p.L2381M			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2396					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGCCATGGTTCTGGATGTTGA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	142	144			NA	NA	3		NA											NA				4847865		1951	4154	6105	SO:0001583	missense			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995	3708	3708		Ion channels / Inositol triphosphate receptors	6180	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 94	147265	spinocerebellar ataxia 15, spinocerebellar ataxia 16, spinocerebellar ataxia 29	SCA15, SCA16, SCA29	NA	7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_002222	NM_001099952	NA	Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000357086.4:c.7042C>A	3.37:g.4847865C>A	ENSP00000349597:p.Leu2348Met	NA	Q14660|Q99897	37	CCDS46740.2	.	.	.	.	.	.	.	.	.	.	C	2.151	-0.394562	0.04899	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.97430	-2.77;-2.77;-2.77;-2.77;-2.77;-4.38;-2.77	5.07	4.2	0.49525	Ion transport (1);	0.176545	0.46442	D	0.000284	D	0.89522	0.6739	N	0.01267	-0.92	0.33300	D	0.564656	B;B;B	0.24963	0.115;0.001;0.002	B;B;B	0.37989	0.262;0.006;0.004	D	0.87271	0.2286	10	0.29301	T	0.29	.	6.6622	0.23020	0.155:0.6874:0.0:0.1575	.	359;2396;2348	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	M	2396;2381;2381;2348;842;2348;2333;359;2381	ENSP00000306253:L2381M;ENSP00000346595:L2381M;ENSP00000405934:L2348M;ENSP00000349597:L2348M;ENSP00000397885:L2333M;ENSP00000440564:L359M;ENSP00000401671:L2381M	ENSP00000306253:L2381M	L	+	1	2	ITPR1	4822865	0.445000	0.25657	0.981000	0.43875	0.971000	0.66376	0.973000	0.29422	1.273000	0.44346	-0.218000	0.12543	CTG	ITPR1-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337979.3		+	ENST00000357086.4	Missense_Mutation	SNP	3 : 4847865 - 4847865 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	64
DST	667	broad.mit.edu	37	6	56498955	56498955	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56498955C>T	ENST00000361203.3	-	23	2970	c.2963G>A	c.(2962-2964)aGa>aAa	p.R988K	DST_ENST00000370769.4_Missense_Mutation_p.R988K|DST_ENST00000421834.2_Missense_Mutation_p.R988K|DST_ENST00000370765.6_Missense_Mutation_p.R662K|DST_ENST00000446842.2_Missense_Mutation_p.R662K|DST_ENST00000518935.1_Missense_Mutation_p.R662K|DST_ENST00000370754.5_Missense_Mutation_p.R1166K|DST_ENST00000244364.6_Missense_Mutation_p.R662K|DST_ENST00000370788.2_Missense_Mutation_p.R988K|DST_ENST00000312431.6_Missense_Mutation_p.R988K			Q03001	DYST_HUMAN	dystonin	988					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGCTCGAATTCTATCAATTTC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													186	168	174			NA	NA	6		NA											NA				56498955		2203	4300	6503	SO:0001583	missense			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914	667	667		EF-hand domain containing	1090	protein-coding gene	gene with protein product		113810	bullous pemphigoid antigen 1, 230/240kDa	BPAG1	NA	2461961, 2276744	Standard	NM_001723	NM_001144770	NA	Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.2963G>A	6.37:g.56498955C>T	ENSP00000354508:p.Arg988Lys	NA	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	37		.	.	.	.	.	.	.	.	.	.	C	11.37	1.617451	0.28801	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97	5.48	3.66	0.41972	.	0.611371	0.14323	N	0.326849	T	0.24044	0.0582	N	0.04508	-0.205	0.25078	N	0.990944	B;B;B;B;B;B;B;B	0.27951	0.0;0.001;0.0;0.088;0.115;0.001;0.0;0.195	B;B;B;B;B;B;B;B	0.30943	0.0;0.003;0.0;0.028;0.086;0.007;0.0;0.122	T	0.12682	-1.0538	9	0.05959	T	0.93	.	5.762	0.18205	0.1075:0.5844:0.2226:0.0855	.	988;988;1166;662;662;662;988;662	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	K	662;1166;988;988;662;988;988;988;662;1028;662;662	ENSP00000244364:R662K;ENSP00000359790:R1166K;ENSP00000359805:R988K;ENSP00000400883:R988K;ENSP00000393645:R662K;ENSP00000307959:R988K;ENSP00000359824:R988K;ENSP00000354508:R988K;ENSP00000404924:R662K;ENSP00000431030:R1028K;ENSP00000359801:R662K;ENSP00000431003:R662K	ENSP00000244364:R662K	R	-	2	0	DST	56606914	0.933000	0.31639	0.996000	0.52242	0.992000	0.81027	2.772000	0.47678	1.327000	0.45338	0.585000	0.79938	AGA	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000041021.3		-	ENST00000361203.3	Missense_Mutation	SNP	6 : 56498955 - 56498955 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	604	109
PTGS2	5743	broad.mit.edu	37	1	186645084	186645084	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186645084C>T	ENST00000367468.5	-	8	1339	c.1203G>A	c.(1201-1203)ctG>ctA	p.L401L	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	401					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	TTCCATGTTCCAGCAATATAG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	123	124			NA	NA	1		NA											NA				186645084		2203	4300	6503	SO:0001819	synonymous_variant			D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	5743	5743	1.14.99.1		9605	protein-coding gene	gene with protein product		600262			NA	1380156	Standard	NM_000963	NM_000963	NA	Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.1203G>A	1.37:g.186645084C>T		NA	A8K802|Q16876	37	CCDS1371.1																																																																																			PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086157.2		-	ENST00000367468.5	Silent	SNP	1 : 186645084 - 186645084 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	322	103
IQGAP2	10788	broad.mit.edu	37	5	75932970	75932970	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75932970A>C	ENST00000274364.6	+	16	2189	c.1892A>C	c.(1891-1893)aAa>aCa	p.K631T	IQGAP2_ENST00000396234.3_Missense_Mutation_p.K184T|IQGAP2_ENST00000379730.3_Missense_Mutation_p.K190T|IQGAP2_ENST00000502745.1_Missense_Mutation_p.K184T	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	631					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TGCTTGTATAAAGAATCATGG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	102	103			NA	NA	5		NA											NA				75932970		2203	4300	6503	SO:0001583	missense			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703	10788	10788			6111	protein-coding gene	gene with protein product		605401			NA	8756646	Standard	NM_006633	XM_005248409	NA	Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.1892A>C	5.37:g.75932970A>C	ENSP00000274364:p.Lys631Thr	NA	A8K4V1|B7Z8A4	37	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.455648	0.26161	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000514350;ENST00000505766;ENST00000514001;ENST00000396234;ENST00000545384;ENST00000502745	T;T;T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18;0.18;0.18	5.72	5.72	0.89469	.	0.271796	0.42053	D	0.000765	T	0.56978	0.2022	M	0.71581	2.175	0.24087	N	0.995924	P;B;P;B	0.37914	0.611;0.141;0.611;0.141	B;B;B;B	0.38842	0.283;0.108;0.283;0.065	T	0.54925	-0.8220	10	0.27082	T	0.32	-22.9968	12.3878	0.55343	1.0:0.0:0.0:0.0	.	190;581;184;631	F5H7S7;E7EWC2;Q13576-2;Q13576	.;.;.;IQGA2_HUMAN	T	631;190;604;581;184;184;184;184	ENSP00000274364:K631T;ENSP00000442313:K190T;ENSP00000423672:K604T;ENSP00000421097:K581T;ENSP00000422661:K184T;ENSP00000379535:K184T;ENSP00000426027:K184T	ENSP00000274364:K631T	K	+	2	0	IQGAP2	75968726	1.000000	0.71417	0.228000	0.23943	0.142000	0.21351	4.922000	0.63404	2.186000	0.69663	0.477000	0.44152	AAA	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368877.1		+	ENST00000274364.6	Missense_Mutation	SNP	5 : 75932970 - 75932970 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	553	117
ITPR3	3710	broad.mit.edu	37	6	33633694	33633694	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33633694G>T	ENST00000374316.5	+	15	2552	c.1492G>T	c.(1492-1494)Gtc>Ttc	p.V498F	ITPR3_ENST00000605930.1_Missense_Mutation_p.V498F			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	498					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GGACATCATGGTCACTAAGCC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	86	98			NA	NA	6		NA											NA				33633694		2203	4300	6503	SO:0001583	missense			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433	3710	3710		Ion channels / Inositol triphosphate receptors	6182	protein-coding gene	gene with protein product		147267	inositol 1,4,5-triphosphate receptor, type 3		NA	8081734, 8288584	Standard	NM_002224	NM_002224	NA	Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.1492G>T	6.37:g.33633694G>T	ENSP00000363435:p.Val498Phe	NA	Q14649|Q5TAQ2	37	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112780	0.56398	.	.	ENSG00000096433	ENST00000374316	D	0.95518	-3.73	5.64	5.64	0.86602	Intracellular calcium-release channel (1);	0.053328	0.85682	D	0.000000	D	0.93726	0.7995	L	0.49350	1.555	0.46981	D	0.999279	P	0.45827	0.867	P	0.50136	0.632	D	0.93023	0.6442	10	0.40728	T	0.16	-49.3902	13.9283	0.63978	0.0726:0.0:0.9274:0.0	.	498	Q14573	ITPR3_HUMAN	F	498	ENSP00000363435:V498F	ENSP00000363435:V498F	V	+	1	0	ITPR3	33741672	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	4.547000	0.60712	2.654000	0.90174	0.563000	0.77884	GTC	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040204.2		+	ENST00000374316.5	Missense_Mutation	SNP	6 : 33633694 - 33633694 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	181	32
PACRG	135138	broad.mit.edu	37	6	163510351	163510351	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:163510351T>G	ENST00000337019.3	+	5	748	c.524T>G	c.(523-525)cTg>cGg	p.L175R	PACRG_ENST00000366888.2_Missense_Mutation_p.L175R|PACRG_ENST00000366889.2_Missense_Mutation_p.L175R	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	175										endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		CTCCAGCATCTGGTTGTGTCA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	128	136			NA	NA	6		NA											NA				163510351		2203	4300	6503	SO:0001583	missense			AK057286	CCDS5284.1, CCDS43524.1	6q26	2004-07-01			ENSG00000112530	ENSG00000112530	135138	135138			19152	protein-coding gene	gene with protein product		608427			NA	12547187	Standard	NM_152410	NM_001080378	NA	Approved	PARK2CRG, FLJ32724, Glup, HAK005771	uc003qua.3	Q96M98	OTTHUMG00000016116	ENST00000337019.3:c.524T>G	6.37:g.163510351T>G	ENSP00000337946:p.Leu175Arg	NA	E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	37	CCDS5284.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.6|25.6	4.659151|4.659151	0.88154|0.88154	.|.	.|.	ENSG00000112530|ENSG00000112530	ENST00000337019;ENST00000366889;ENST00000366888|ENST00000542936	T;T;T|.	0.73258|.	-0.67;-0.73;-0.73|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.82135|0.82135	0.4971|0.4971	M|M	0.91972|0.91972	3.26|3.26	0.58432|0.58432	D|D	0.999998|0.999998	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.997;0.999|.	D|D	0.86591|0.86591	0.1860|0.1860	10|5	0.87932|.	D|.	0|.	-15.6516|-15.6516	15.8327|15.8327	0.78769|0.78769	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	175;175|.	Q96M98-2;Q96M98|.	.;PACRG_HUMAN|.	R|G	175|33	ENSP00000337946:L175R;ENSP00000355855:L175R;ENSP00000355854:L175R|.	ENSP00000337946:L175R|.	L|W	+|+	2|1	0|0	PACRG|PACRG	163430341|163430341	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.959000|0.959000	0.62525|0.62525	7.227000|7.227000	0.78070|0.78070	2.146000|2.146000	0.66826|0.66826	0.482000|0.482000	0.46254|0.46254	CTG|TGG	PACRG-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400424.1		+	ENST00000337019.3	Missense_Mutation	SNP	6 : 163510351 - 163510351 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	580	104
C18orf54	162681	broad.mit.edu	37	18	51889266	51889266	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51889266T>C	ENST00000300091.5	+	4	1047	c.715T>C	c.(715-717)Tca>Cca	p.S239P	C18orf54_ENST00000382911.4_Missense_Mutation_p.S400P|C18orf54_ENST00000578138.1_Missense_Mutation_p.S18P	NM_173529.4	NP_775800.3	Q8IYD9	CR054_HUMAN	chromosome 18 open reading frame 54	239						extracellular region				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		AGCAGACAGATCATGGGAAAA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	81	82			NA	NA	18		NA											NA				51889266		2203	4300	6503	SO:0001583	missense			AK126503	CCDS11956.1, CCDS74223.1	18q21	2012-10-24			ENSG00000166845	ENSG00000166845	162681	162681			13796	protein-coding gene	gene with protein product	lung adenoma susceptibility protein 2	613258			NA		Standard	NM_173529	XM_005258201	NA	Approved	MGC33382, LAS2	uc031rij.1	Q8IYD9	OTTHUMG00000132703	ENST00000300091.5:c.715T>C	18.37:g.51889266T>C	ENSP00000300091:p.Ser239Pro	NA	Q6MZU3|Q6ZTL6	37	CCDS11956.1	.	.	.	.	.	.	.	.	.	.	T	10.40	1.339833	0.24339	.	.	ENSG00000166845	ENST00000300091;ENST00000382911	T;T	0.48522	0.81;0.81	5.12	3.91	0.45181	.	0.077624	0.53938	D	0.000060	T	0.59362	0.2188	L	0.57536	1.79	0.38418	D	0.946099	P;D	0.61080	0.717;0.989	B;D	0.63957	0.352;0.92	T	0.61888	-0.6970	10	0.54805	T	0.06	-1.4013	9.9255	0.41489	0.1578:0.0:0.0:0.8422	.	400;239	Q8IYD9-2;Q8IYD9	.;CR054_HUMAN	P	239;400	ENSP00000300091:S239P;ENSP00000372368:S400P	ENSP00000300091:S239P	S	+	1	0	C18orf54	50143264	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	3.740000	0.55082	0.747000	0.32809	0.402000	0.26972	TCA	C18orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256001.1		+	ENST00000300091.5	Missense_Mutation	SNP	18 : 51889266 - 51889266 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	59
LZTS2	84445	broad.mit.edu	37	10	102766922	102766922	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102766922C>A	ENST00000370220.1	+	4	5070	c.2007C>A	c.(2005-2007)atC>atA	p.I669I	LZTS2_ENST00000370223.3_Silent_p.I669I			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	669	Sufficient for interaction with CTNNB1.|Sufficient for interaction with KATNB1 and for inhibition of katanin-mediated microtubule severing (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		CTACTGAGATCTAGGGCCCTC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(8;38 437 13604 19902 37640)							NA				0													14	17	16			NA	NA	10		NA											NA				102766922		2091	4088	6179	SO:0001819	synonymous_variant			AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816	84445	84445			29381	protein-coding gene	gene with protein product		610454			NA	11347906, 11709705	Standard	XM_046743	NM_032429	NA	Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.2007C>A	10.37:g.102766922C>A		NA	B1AL14|D3DR72|Q8N3I0|Q96J79|Q96JL2	37	CCDS7507.1																																																																																			LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049872.1		+	ENST00000370220.1	Silent	SNP	10 : 102766922 - 102766922 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	124	12
TDO2	6999	broad.mit.edu	37	4	156840997	156840997	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156840997A>G	ENST00000536354.2	+	12	1140	c.1076A>G	c.(1075-1077)tAc>tGc	p.Y359C		NM_005651.3	NP_005642.1	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	359					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	AGTGATAGGTACAAGGTATTT	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(57;928 1036 2595 6946 26094)							NA				0													65	66	66			NA	NA	4		NA											NA				156840997		2203	4300	6503	SO:0001583	missense				CCDS34086.1	4q31-q32	2008-02-05				ENSG00000151790	6999	6999	1.13.11.11		11708	protein-coding gene	gene with protein product		191070			NA		Standard	NM_005651	NM_005651	NA	Approved	TDO, TPH2	uc003ipf.2	P48775		ENST00000536354.2:c.1076A>G	4.37:g.156840997A>G	ENSP00000444788:p.Tyr359Cys	NA	A8K053	37	CCDS34086.1	.	.	.	.	.	.	.	.	.	.	A	17.98	3.520340	0.64747	.	.	ENSG00000151790	ENST00000536354	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.85013	0.5600	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.88209	0.2889	9	0.87932	D	0	-20.8017	16.215	0.82206	1.0:0.0:0.0:0.0	.	359	P48775	T23O_HUMAN	C	359	.	ENSP00000281525:Y359C	Y	+	2	0	TDO2	157060447	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	8.768000	0.91737	2.288000	0.76882	0.533000	0.62120	TAC	TDO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366209.3		+	ENST00000536354.2	Missense_Mutation	SNP	4 : 156840997 - 156840997 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	140	22
RPS6KA2	6196	broad.mit.edu	37	6	166827296	166827296	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:166827296C>T	ENST00000405189.3	-	20	2127	c.1795G>A	c.(1795-1797)Gtg>Atg	p.V599M	RPS6KA2_ENST00000265678.4_Missense_Mutation_p.V688M|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.V599M|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.V696M|RPS6KA2_ENST00000510118.1_Missense_Mutation_p.V713M|RPS6KA2_ENST00000509742.1_5'UTR			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	688	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		ACCAGGTGCACGTCCTGTCGG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	79	86			NA	NA	6		NA											NA				166827296		2203	4300	6503	SO:0001583	missense			L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242	6196	6196			10431	protein-coding gene	gene with protein product		601685	ribosomal protein S6 kinase, 90kD, polypeptide 2		NA	8141249	Standard	NM_021135	NM_001006932	NA	Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000405189.3:c.1795G>A	6.37:g.166827296C>T	ENSP00000386050:p.Val599Met	NA	Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	37		.	.	.	.	.	.	.	.	.	.	C	13.96	2.393308	0.42410	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	3.99	3.99	0.46301	Protein kinase-like domain (1);	0.410486	0.24276	N	0.039959	T	0.22936	0.0554	L	0.40543	1.245	0.80722	D	1	B;B;D	0.61080	0.302;0.287;0.989	B;B;B	0.42087	0.029;0.064;0.375	T	0.02519	-1.1147	10	0.29301	T	0.29	.	15.671	0.77274	0.0:1.0:0.0:0.0	.	713;696;688	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	M	688;713;696;599;599	ENSP00000265678:V688M;ENSP00000422435:V713M;ENSP00000427015:V696M;ENSP00000422484:V599M;ENSP00000386050:V599M	ENSP00000265678:V688M	V	-	1	0	RPS6KA2	166747286	0.979000	0.34478	0.934000	0.37439	0.863000	0.49368	3.460000	0.53028	2.245000	0.73994	0.478000	0.44815	GTG	RPS6KA2-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000362838.2		-	ENST00000405189.3	Missense_Mutation	SNP	6 : 166827296 - 166827296 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	213	27
TRIM16L	147166	broad.mit.edu	37	17	18638561	18638561	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18638561C>T	ENST00000449552.2	+	7	2319	c.835C>T	c.(835-837)Ctc>Ttc	p.L279F	TRIM16L_ENST00000414850.2_3'UTR|TRIM16L_ENST00000571708.1_Missense_Mutation_p.L279F|TRIM16L_ENST00000395671.4_Missense_Mutation_p.L279F|TRIM16L_ENST00000395902.3_Missense_Mutation_p.L333F|TRIM16L_ENST00000572555.1_Missense_Mutation_p.L279F|TRIM16L_ENST00000395672.2_Missense_Mutation_p.L279F			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	279	B30.2/SPRY.					cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						TTTCTGGAGGCTCGGGGTCTA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	77	77			NA	NA	17		NA											NA				18638561		2203	4300	6503	SO:0001583	missense			DQ232882	CCDS32588.1	17p11.2	2011-02-10	2011-01-25		ENSG00000108448	ENSG00000108448	147166	147166			32670	protein-coding gene	gene with protein product			tripartite motif-containing 16-like		NA		Standard	NM_001037330	XM_005256479	NA	Approved	TRIM70	uc002gui.1	Q309B1	OTTHUMG00000059050	ENST00000449552.2:c.835C>T	17.37:g.18638561C>T	ENSP00000461386:p.Leu279Phe	NA	A0PK10|B2RUW6|B4DQK2	37	CCDS32588.1	.	.	.	.	.	.	.	.	.	.	c	11.08	1.534703	0.27475	.	.	ENSG00000108448	ENST00000395902;ENST00000395672;ENST00000395671	T;T;T	0.70631	-0.5;-0.5;-0.5	3.35	2.36	0.29203	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.435857	0.21766	U	0.069431	T	0.70211	0.3198	L	0.35644	1.08	0.29799	N	0.832596	D;D;D	0.69078	0.976;0.997;0.976	P;D;P	0.63703	0.812;0.917;0.812	T	0.65080	-0.6255	10	0.87932	D	0	-11.0171	4.6322	0.12507	0.0:0.642:0.2274:0.1306	.	333;495;279	B4DE22;B3KMJ2;Q309B1	.;.;TR16L_HUMAN	F	333;279;279	ENSP00000379239:L333F;ENSP00000379031:L279F;ENSP00000379030:L279F	ENSP00000379030:L279F	L	+	1	0	TRIM16L	18579286	1.000000	0.71417	0.682000	0.30024	0.073000	0.16967	1.577000	0.36515	0.599000	0.29845	0.194000	0.17425	CTC	TRIM16L-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130670.3		+	ENST00000449552.2	Missense_Mutation	SNP	17 : 18638561 - 18638561 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	13
BAI2	576	broad.mit.edu	37	1	32196611	32196611	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32196611G>A	ENST00000373658.3	-	29	4511	c.4170C>T	c.(4168-4170)gcC>gcT	p.A1390A	BAI2_ENST00000373655.2_Silent_p.A1390A|BAI2_ENST00000398542.1_Silent_p.A1290A|BAI2_ENST00000440175.2_Silent_p.A999A|BAI2_ENST00000398556.3_Silent_p.A1305A|BAI2_ENST00000527361.1_Silent_p.A1357A|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000398538.1_Silent_p.A1378A|BAI2_ENST00000398547.1_Silent_p.A1323A|BAI2_ENST00000257070.4_Silent_p.A1357A	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1390					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CTTCAGTGTGGGCCACTGTCT	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	24	22			NA	NA	1		NA											NA				32196611		2200	4300	6500	SO:0001819	synonymous_variant			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753	576	576		-, GPCR / Class B : Orphans	944	protein-coding gene	gene with protein product		602683			NA	9533023	Standard	NM_001703	XM_006710783	NA	Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.4170C>T	1.37:g.32196611G>A		NA	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	37	CCDS346.2																																																																																			BAI2-015	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381838.1		-	ENST00000373658.3	Silent	SNP	1 : 32196611 - 32196611 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	202	26
MN1	4330	broad.mit.edu	37	22	28196482	28196482	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28196482C>T	ENST00000302326.4	-	1	1004	c.50G>A	c.(49-51)gGc>gAc	p.G17D		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	17							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CTCGCCCTGGCCAGCGTTCCT	0.622		NA	T	ETV6	AML, meningioma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		L, O	0													56	61	59			NA	NA	22		NA											NA				28196482		2001	4167	6168	SO:0001583	missense			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184	4330	4330			7180	protein-coding gene	gene with protein product	probable tumor suppressor protein MN1	156100	meningioma chromosome region	MGCR	NA	7731706, 12569362	Standard	NM_002430	NM_002430	NA	Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.50G>A	22.37:g.28196482C>T	ENSP00000304956:p.Gly17Asp	NA	A9Z1V9	37	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889768	0.72524	.	.	ENSG00000169184	ENST00000302326	T	0.72051	-0.62	4.6	4.6	0.57074	.	0.060889	0.64402	D	0.000005	T	0.74959	0.3785	L	0.27053	0.805	0.53005	D	0.99996	D	0.67145	0.996	D	0.67725	0.953	T	0.79220	-0.1893	10	0.87932	D	0	-16.2213	16.3356	0.83059	0.0:1.0:0.0:0.0	.	17	Q10571	MN1_HUMAN	D	17	ENSP00000304956:G17D	ENSP00000304956:G17D	G	-	2	0	MN1	26526482	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.894000	0.75655	2.249000	0.74217	0.462000	0.41574	GGC	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320737.1		-	ENST00000302326.4	Missense_Mutation	SNP	22 : 28196482 - 28196482 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	287	10
GPRASP2	114928	broad.mit.edu	37	X	101969867	101969867	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101969867G>A	ENST00000535209.1	+	4	901	c.70G>A	c.(70-72)Gct>Act	p.A24T	GPRASP2_ENST00000332262.5_Missense_Mutation_p.A24T|GPRASP2_ENST00000543253.1_Missense_Mutation_p.A24T					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						AGAGGTTATCGCTGGGCCTGA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,3834		0,1,1631,571	114	108	110		70,70,70,70,70,70	-1.4	0	X		110	0,6728		0,0,2428,1872	no	missense,missense,missense,missense,missense,missense	GPRASP2,ARMCX5-GPRASP2	NM_001004051.3,NM_001184874.2,NM_001184875.2,NM_001184876.2,NM_001199818.1,NM_138437.5	58,58,58,58,58,58	0,1,4059,2443	AA,AG,GG,G	NA	0.0,0.0261,0.0095	benign,benign,benign,benign,benign,benign	24/839,24/839,24/839,24/839,24/839,24/839	101969867	1,10562	2203	4300	6503	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.70G>A	X.37:g.101969867G>A	ENSP00000437394:p.Ala24Thr	NA		37	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	G	2.792	-0.251175	0.05867	2.61E-4	0.0	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.07021	3.23;3.23;3.23	2.95	-1.43	0.08884	.	1.467860	0.04411	N	0.366081	T	0.04048	0.0113	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.40869	-0.9540	10	0.21014	T	0.42	.	3.8041	0.08770	0.3948:0.1847:0.4205:0.0	.	24	Q96D09	GASP2_HUMAN	T	24	ENSP00000437872:A24T;ENSP00000437394:A24T;ENSP00000339057:A24T	ENSP00000339057:A24T	A	+	1	0	GPRASP2	101856523	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.639000	0.24690	-0.757000	0.04697	-0.478000	0.04885	GCT	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057626.2		+	ENST00000535209.1	Missense_Mutation	SNP	X : 101969867 - 101969867 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	515	160
PDIA4	9601	broad.mit.edu	37	7	148718166	148718166	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148718166G>A	ENST00000286091.4	-	2	394	c.162C>T	c.(160-162)gaC>gaT	p.D54D		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	54	Asp/Glu-rich (acidic).|Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CTTCCAAGTCGtcttcttcct	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4405	2.1+/-5.4	0,1,2202	191	175	180		162	-9.5	0	7		180	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PDIA4	NM_004911.4		0,2,6501	AA,AG,GG	NA	0.0116,0.0227,0.0154		54/646	148718166	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	9601	9601	5.3.4.1	Protein disulfide isomerases	30167	protein-coding gene	gene with protein product			protein disulfide isomerase-associated 4		NA	2549034, 2002068	Standard	NM_004911	NM_004911	NA	Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.162C>T	7.37:g.148718166G>A		NA	A8K4K6|Q549T6	37	CCDS5893.1																																																																																			PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317077.1		-	ENST00000286091.4	Silent	SNP	7 : 148718166 - 148718166 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	156	25
MARVELD3	91862	broad.mit.edu	37	16	71674597	71674597	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71674597C>T	ENST00000299952.4	+	3	943	c.900C>T	c.(898-900)ctC>ctT	p.L300L	MARVELD3_ENST00000561682.1_Intron|PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000565261.1_3'UTR	NM_001017967.3|NM_001271329.1	NP_001017967.2|NP_001258258.1	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	303	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GGAAGTGGCTCCTCACGGAGG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	51	52			NA	NA	16		NA											NA				71674597		2198	4300	6498	SO:0001819	synonymous_variant			BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832	91862	91862			30525	protein-coding gene	gene with protein product		614094	MARVEL (membrane-associating) domain containing 3	MRVLDC3	NA		Standard	NM_052858	NM_001017967	NA	Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000299952.4:c.900C>T	16.37:g.71674597C>T		NA	A8K820|Q96MJ4	37	CCDS32478.1																																																																																			MARVELD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268990.1		+	ENST00000299952.4	Silent	SNP	16 : 71674597 - 71674597 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	301	19
FAM167A	83648	broad.mit.edu	37	8	11301625	11301625	+	Missense_Mutation	SNP	C	C	A	rs78823081	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11301625C>A	ENST00000528897.1	-	2	915	c.296G>T	c.(295-297)aGc>aTc	p.S99I	FAM167A_ENST00000534308.1_Missense_Mutation_p.S99I|FAM167A_ENST00000284486.4_Missense_Mutation_p.S99I			Q96KS9	F167A_HUMAN	family with sequence similarity 167, member A	99										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						GGCACCTTGGCTGGCACTCCT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	37	36			NA	NA	8		NA											NA				11301625		2124	4260	6384	SO:0001583	missense				CCDS5981.1	8p23-p22	2010-08-27	2008-06-11	2008-06-11	ENSG00000154319	ENSG00000154319	83648	83648			15549	protein-coding gene	gene with protein product		610085	chromosome 8 open reading frame 13	C8orf13	NA		Standard		NM_053279	NA	Approved		uc003wtw.2	Q96KS9	OTTHUMG00000129361	ENST00000528897.1:c.296G>T	8.37:g.11301625C>A	ENSP00000436655:p.Ser99Ile	NA	A8K3T9|Q3SXY1|Q3SXY3|Q8N3M3|Q9NSR0	37	CCDS5981.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900422	0.33535	.	.	ENSG00000154319	ENST00000284486;ENST00000534308;ENST00000528897	T;T;T	0.08634	3.07;3.07;3.07	5.42	1.44	0.22558	.	1.105750	0.06575	N	0.749347	T	0.07007	0.0178	L	0.40543	1.245	0.09310	N	1	P	0.34780	0.468	B	0.26969	0.075	T	0.36792	-0.9733	10	0.62326	D	0.03	-0.1598	4.9173	0.13853	0.0:0.4039:0.274:0.3221	.	99	Q96KS9	F167A_HUMAN	I	99	ENSP00000284486:S99I;ENSP00000432232:S99I;ENSP00000436655:S99I	ENSP00000284486:S99I	S	-	2	0	FAM167A	11339035	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.265000	0.18515	0.664000	0.31047	0.655000	0.94253	AGC	FAM167A-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383901.1		-	ENST00000528897.1	Missense_Mutation	SNP	8 : 11301625 - 11301625 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	469	43
FAM13A	10144	broad.mit.edu	37	4	89708990	89708990	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89708990T>C	ENST00000264344.5	-	10	1392	c.1185A>G	c.(1183-1185)ggA>ggG	p.G395G	FAM13A_ENST00000508369.1_Silent_p.G69G|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000513837.1_Silent_p.G41G|FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000503556.1_Silent_p.G55G|FAM13A_ENST00000395002.2_Silent_p.G69G	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	395					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CTGATAGTGTTCCAGATTCTG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	111	111			NA	NA	4		NA											NA				89708990		2203	4300	6503	SO:0001819	synonymous_variant			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640	10144	10144		Rho GTPase activating proteins	19367	protein-coding gene	gene with protein product		613299	family with sequence similarity 13, member A1	FAM13A1	NA		Standard		NM_014883	NA	Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.1185A>G	4.37:g.89708990T>C		NA	B4DLC1|Q24JP0|Q5PR21|Q8NBA3	37	CCDS34029.1																																																																																			FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363371.1		-	ENST00000264344.5	Silent	SNP	4 : 89708990 - 89708990 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	437	84
SLC9C2	284525	broad.mit.edu	37	1	173542452	173542452	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173542452A>C	ENST00000367714.3	-	9	1337	c.915T>G	c.(913-915)atT>atG	p.I305M	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Missense_Mutation_p.I203M	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	305					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity				NA						CAGATGAAAAAATTCTTAAGA	0.264		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	35	34			NA	NA	1		NA											NA				173542452		2200	4290	6490	SO:0001583	missense			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753	284525	284525		Solute carriers	28664	protein-coding gene	gene with protein product			solute carrier family 9, isoform 11, solute carrier family 9, member 11, solute carrier family 9, member C2	SLC9A11	NA		Standard	NM_178527	NM_178527	NA	Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.915T>G	1.37:g.173542452A>C	ENSP00000356687:p.Ile305Met	NA	Q86UF3	37	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	A	0.368	-0.935365	0.02340	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.06528	3.29;3.29	5.04	1.67	0.24075	Cation/H+ exchanger (1);	0.667115	0.14593	N	0.310103	T	0.00412	0.0013	N	0.00436	-1.5	0.09310	N	1	B	0.14438	0.01	B	0.16289	0.015	T	0.46247	-0.9205	10	0.02654	T	1	-12.9559	7.3772	0.26835	0.3368:0.5059:0.1573:0.0	.	305	Q5TAH2	S9A11_HUMAN	M	305;203	ENSP00000356687:I305M;ENSP00000445437:I203M	ENSP00000356687:I305M	I	-	3	3	SLC9A11	171809075	0.237000	0.23815	0.376000	0.26042	0.065000	0.16274	-0.243000	0.08915	1.105000	0.41606	-0.286000	0.09958	ATT	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084205.1		-	ENST00000367714.3	Missense_Mutation	SNP	1 : 173542452 - 173542452 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	121	27
RAPGEF6	51735	broad.mit.edu	37	5	130788766	130788766	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130788766C>A	ENST00000507093.1	-	21	3362	c.3181G>T	c.(3181-3183)Gct>Tct	p.A1061S	RAPGEF6_ENST00000308008.6_Missense_Mutation_p.A1061S|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.A776S|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.A1066S|RAPGEF6_ENST00000509018.1_Missense_Mutation_p.A1061S|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.A1061S|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.A1111S	NM_001164388.1	NP_001157860.1	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1061	Ras-GEF.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AACATCATAGCTGGGTCCATG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(168;435 1955 13113 13877 23213)							NA				0													118	120	119			NA	NA	5		NA											NA				130788766		2203	4300	6503	SO:0001583	missense			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987	51735	51735			20655	protein-coding gene	gene with protein product		610499	PDZ domain containing guanine nucleotide exchange factor (GEF) 2	PDZGEF2	NA	11524421, 12095257	Standard	NM_016340	NM_016340	NA	Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000507093.1:c.3181G>T	5.37:g.130788766C>A	ENSP00000426081:p.Ala1061Ser	NA	Q8NI21|Q8TEU6|Q96PC1	37	CCDS54899.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536943	0.85812	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000514667	T;T;T;T;T;T;T	0.29142	1.83;1.69;1.69;1.78;1.58;1.61;1.92	4.94	4.94	0.65067	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.46328	0.1387	L	0.35341	1.055	0.80722	D	1	P;B;D;D;D;D;B	0.89917	0.942;0.23;0.966;1.0;1.0;0.999;0.119	P;B;P;D;D;D;B	0.87578	0.816;0.168;0.832;0.997;0.998;0.993;0.168	T	0.35871	-0.9771	10	0.41790	T	0.15	.	18.5281	0.90980	0.0:1.0:0.0:0.0	.	1061;1061;1061;776;1111;1066;1061	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	S	1061;1066;1061;1061;1066;776;1061;1111	ENSP00000421684:A1061S;ENSP00000309298:A1066S;ENSP00000426081:A1061S;ENSP00000296859:A1061S;ENSP00000426910:A776S;ENSP00000311419:A1061S;ENSP00000426948:A1111S	ENSP00000426948:A1111S	A	-	1	0	RAPGEF6;FNIP1	130816665	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.814000	0.86154	2.460000	0.83146	0.467000	0.42956	GCT	RAPGEF6-003	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370061.1		-	ENST00000507093.1	Missense_Mutation	SNP	5 : 130788766 - 130788766 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	501	83
MTMR9	66036	broad.mit.edu	37	8	11180276	11180276	+	Silent	SNP	C	C	T	rs148685240		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11180276C>T	ENST00000526292.1	+	10	1670	c.1374C>T	c.(1372-1374)gaC>gaT	p.D458D	MTMR9_ENST00000221086.3_Silent_p.D543D|AF131216.6_ENST00000498997.2_RNA			Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	543	Myotubularin phosphatase.					cytoplasm	phosphatase activity|protein binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		AAACAGAGGACGGGATGCAGG	0.463		NA											C	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	8e-04	SNP								NA				0								C		2,4404	4.2+/-10.8	0,2,2201	78	75	76		1629	-6	0	8	dbSNP_134	76	0,8600		0,0,4300	no	coding-synonymous	MTMR9	NM_015458.3		0,2,6501	TT,TC,CC	NA	0.0,0.0454,0.0154		543/550	11180276	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643	66036	66036		Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins	14596	protein-coding gene	gene with protein product		606260	myotubularin related protein 8	C8orf9, MTMR8	NA	11472061, 11896452, 12890864	Standard	NM_015458	NM_015458	NA	Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000526292.1:c.1374C>T	8.37:g.11180276C>T		NA	Q52LU3|Q8WW11|Q96QG6|Q9NX50	37																																																																																				MTMR9-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000383639.1		+	ENST00000526292.1	Silent	SNP	8 : 11180276 - 11180276 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	55
GALNT2	2590	broad.mit.edu	37	1	230415072	230415072	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230415072C>T	ENST00000366672.4	+	16	1656	c.1584C>T	c.(1582-1584)aaC>aaT	p.N528N	GALNT2_ENST00000543760.1_Silent_p.N490N|GALNT2_ENST00000485438.1_3'UTR	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	528	Ricin B-type lectin.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TCGAGGGCAACTCCAAGCTGA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	62	65			NA	NA	1		NA											NA				230415072		2203	4300	6503	SO:0001819	synonymous_variant			BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2590	2590	2.4.1.41	Glycosyltransferase family 2 domain containing	4124	protein-coding gene	gene with protein product	polypeptide GalNAc transferase 2	602274	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)		NA	9592121, 7592619	Standard	NM_004481	NM_004481	NA	Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.1584C>T	1.37:g.230415072C>T		NA	A8K1Y3|C5HU00|Q9NPY4	37	CCDS1582.1																																																																																			GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092158.1		+	ENST00000366672.4	Silent	SNP	1 : 230415072 - 230415072 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	322	87
MADD	8567	broad.mit.edu	37	11	47296342	47296342	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47296342C>A	ENST00000342922.4	+	3	648	c.291C>A	c.(289-291)ttC>ttA	p.F97L	MADD_ENST00000395344.3_Missense_Mutation_p.F97L|MADD_ENST00000402799.1_Missense_Mutation_p.F97L|MADD_ENST00000407859.3_Missense_Mutation_p.F97L|MADD_ENST00000406482.1_Missense_Mutation_p.F97L|MADD_ENST00000395336.3_Missense_Mutation_p.F97L|MADD_ENST00000402192.2_Missense_Mutation_p.F97L|MADD_ENST00000349238.3_Missense_Mutation_p.F97L|MADD_ENST00000311027.5_Missense_Mutation_p.F97L	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	97	UDENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GTGTTAACTTCTACCGCTCCT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	73	73			NA	NA	11		NA											NA				47296342		2201	4298	6499	SO:0001583	missense			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514	8567	8567		DENN/MADD domain containing	6766	protein-coding gene	gene with protein product		603584			NA	9115275, 9796103	Standard		NM_130476	NA	Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000342922.4:c.291C>A	11.37:g.47296342C>A	ENSP00000343902:p.Phe97Leu	NA	D3DQR4|O15065|O15293|Q15732|Q15741|Q8IWD7|Q8WXG3|Q8WXG4|Q8WXG5|Q8WZ63	37	CCDS7931.1	.	.	.	.	.	.	.	.	.	.	C	33	5.219854	0.95139	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000444117;ENST00000395336;ENST00000402192;ENST00000422579	T;T;T;T;T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82	6.17	6.17	0.99709	uDENN (3);	0.000000	0.85682	D	0.000000	T	0.75968	0.3922	M	0.88450	2.955	0.80722	D	1	D;P;P;D;D;D;D;D;D;D	0.69078	0.966;0.898;0.925;0.987;0.987;0.987;0.993;0.996;0.993;0.997	P;P;P;P;P;P;D;D;D;D	0.81914	0.779;0.823;0.804;0.891;0.891;0.891;0.98;0.99;0.962;0.995	T	0.77115	-0.2707	9	.	.	.	-20.1197	20.8794	0.99867	0.0:1.0:0.0:0.0	.	97;97;97;97;97;97;97;97;97;97	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	L	97	ENSP00000343902:F97L;ENSP00000385585:F97L;ENSP00000384435:F97L;ENSP00000304505:F97L;ENSP00000310933:F97L;ENSP00000384204:F97L;ENSP00000378753:F97L;ENSP00000413116:F97L;ENSP00000378745:F97L;ENSP00000384287:F97L;ENSP00000402364:F97L	.	F	+	3	2	MADD	47252918	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.666000	0.54540	2.941000	0.99782	0.655000	0.94253	TTC	MADD-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317741.2		+	ENST00000342922.4	Missense_Mutation	SNP	11 : 47296342 - 47296342 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	555	120
FOCAD	54914	broad.mit.edu	37	9	20990139	20990139	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:20990139G>A	ENST00000380249.1	+	44	5386	c.5022G>A	c.(5020-5022)ttG>ttA	p.L1674L	FOCAD_ENST00000605086.1_Silent_p.L1110L|FOCAD_ENST00000338382.6_Silent_p.L1674L	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	1674						integral to membrane	binding				NA						ACTTCTTCTTGCTGATATTTG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	80	83			NA	NA	9		NA											NA				20990139		2203	4300	6503	SO:0001819	synonymous_variant			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352	54914	54914			23377	protein-coding gene	gene with protein product		614606	KIAA1797	KIAA1797	NA	22427331	Standard	NM_017794	XM_006716794	NA	Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.5022G>A	9.37:g.20990139G>A		NA	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	37	CCDS34993.1																																																																																			FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000143442.1		+	ENST00000380249.1	Silent	SNP	9 : 20990139 - 20990139 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	406	62
ZNF662	389114	broad.mit.edu	37	3	42956386	42956386	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42956386A>C	ENST00000541208.1	+	5	1190	c.821A>C	c.(820-822)aAa>aCa	p.K274T	ZNF662_ENST00000440367.2_Missense_Mutation_p.K274T|ZNF662_ENST00000328199.6_Missense_Mutation_p.K300T|ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		ACTGGAGAGAAACCCTTTGAA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	87	88			NA	NA	3		NA											NA				42956386		2203	4300	6503	SO:0001583	missense			AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983	389114	389114		Zinc fingers, C2H2-type, -	31930	protein-coding gene	gene with protein product					NA		Standard	NM_207404	NM_207404	NA	Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.821A>C	3.37:g.42956386A>C	ENSP00000446208:p.Lys274Thr	NA	Q6ZNF8|Q6ZQW8	37	CCDS2708.1	.	.	.	.	.	.	.	.	.	.	A	13.35	2.210838	0.39102	.	.	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208	T;T;T	0.24908	1.83;1.83;1.83	3.17	3.17	0.36434	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49064	0.1535	M	0.77616	2.38	0.29025	N	0.886078	D;D	0.76494	0.999;0.999	D;D	0.80764	0.99;0.994	T	0.40327	-0.9569	9	0.87932	D	0	.	9.7081	0.40229	1.0:0.0:0.0:0.0	.	300;274	F8W7S8;Q6ZS27	.;ZN662_HUMAN	T	274;300;274	ENSP00000405047:K274T;ENSP00000329264:K300T;ENSP00000446208:K274T	ENSP00000329264:K300T	K	+	2	0	ZNF662	42931390	0.523000	0.26274	1.000000	0.80357	0.994000	0.84299	1.259000	0.32956	1.468000	0.48064	0.454000	0.30748	AAA	ZNF662-201	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256646.4		+	ENST00000541208.1	Missense_Mutation	SNP	3 : 42956386 - 42956386 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	421	70
IRF3	3661	broad.mit.edu	37	19	50166680	50166680	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50166680C>T	ENST00000597198.1	-	3	638	c.257G>A	c.(256-258)cGc>cAc	p.R86H	IRF3_ENST00000599144.1_Intron|IRF3_ENST00000598808.1_5'UTR|IRF3_ENST00000377139.3_Missense_Mutation_p.R86H|IRF3_ENST00000593922.1_5'UTR|IRF3_ENST00000309877.7_Missense_Mutation_p.R86H|IRF3_ENST00000600911.1_Missense_Mutation_p.R86H|IRF3_ENST00000377135.4_Missense_Mutation_p.R86H|IRF3_ENST00000601291.1_Missense_Mutation_p.R86H|IRF3_ENST00000442265.2_Intron|IRF3_ENST00000600022.1_5'UTR|IRF3_ENST00000596822.1_5'UTR|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000599223.1_Missense_Mutation_p.R86H			Q14653	IRF3_HUMAN	interferon regulatory factor 3	86					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		CCCTTCTTTGCGGTTGAGGGC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	60	63			NA	NA	19		NA											NA				50166680		2203	4300	6503	SO:0001583	missense				CCDS12775.1, CCDS56099.1, CCDS59407.1, CCDS59408.1, CCDS59409.1	19q13.3-q13.4	2008-07-16				ENSG00000126456	3661	3661			6118	protein-coding gene	gene with protein product		603734			NA	8524823	Standard	NM_001571	NM_001571	NA	Approved		uc002pow.3	Q14653		ENST00000597198.1:c.257G>A	19.37:g.50166680C>T	ENSP00000469113:p.Arg86His	NA	A8K7L2	37	CCDS12775.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.017058	0.54576	.	.	ENSG00000126456	ENST00000377139;ENST00000309877;ENST00000377135	D;D;D	0.97811	-4.55;-4.55;-4.55	4.92	4.92	0.64577	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.255793	0.32785	N	0.005658	D	0.98267	0.9426	M	0.69463	2.115	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;0.997;0.973;0.999	D;P;P;P;D	0.68621	0.955;0.82;0.82;0.537;0.959	D	0.99157	1.0860	10	0.72032	D	0.01	-24.1366	15.961	0.79930	0.0:1.0:0.0:0.0	.	86;86;86;86;86	B2RAZ3;Q96GL3;Q7Z5G6;Q14653;Q5FBY1	.;.;.;IRF3_HUMAN;.	H	86	ENSP00000366344:R86H;ENSP00000310127:R86H;ENSP00000366339:R86H	ENSP00000310127:R86H	R	-	2	0	IRF3	54858492	1.000000	0.71417	1.000000	0.80357	0.080000	0.17528	3.047000	0.49854	2.451000	0.82905	0.655000	0.94253	CGC	IRF3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465962.1		-	ENST00000597198.1	Missense_Mutation	SNP	19 : 50166680 - 50166680 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	287	55
FAM83B	222584	broad.mit.edu	37	6	54735119	54735119	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54735119G>T	ENST00000306858.7	+	2	191	c.75G>T	c.(73-75)aaG>aaT	p.K25N		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	25								p.K25N(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CTCACTACAAGGAATGGTATC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	kidney(1)											142	128	133			NA	NA	6		NA											NA				54735119		2203	4300	6503	SO:0001583	missense			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143	222584	222584			21357	protein-coding gene	gene with protein product			chromosome 6 open reading frame 143	C6orf143	NA	22886302	Standard	XM_294139	NM_001010872	NA	Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.75G>T	6.37:g.54735119G>T	ENSP00000304078:p.Lys25Asn	NA	Q2M1P3|Q96DQ2	37	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035781	0.54896	.	.	ENSG00000168143	ENST00000306858	T	0.11063	2.81	5.08	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.10423	0.0255	N	0.26092	0.79	0.49051	D	0.99974	D	0.89917	1.0	D	0.83275	0.996	T	0.07966	-1.0745	10	0.46703	T	0.11	-29.8232	9.8932	0.41302	0.1563:0.0:0.8437:0.0	.	25	Q5T0W9	FA83B_HUMAN	N	25	ENSP00000304078:K25N	ENSP00000304078:K25N	K	+	3	2	FAM83B	54843078	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.459000	0.35234	1.273000	0.44346	0.467000	0.42956	AAG	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040994.1		+	ENST00000306858.7	Missense_Mutation	SNP	6 : 54735119 - 54735119 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	627	136
QKI	9444	broad.mit.edu	37	6	163836318	163836318	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:163836318G>A	ENST00000361752.3	+	1	644	c.93G>A	c.(91-93)ctG>ctA	p.L31L	QKI_ENST00000453779.2_Silent_p.L31L|QKI_ENST00000424802.3_Silent_p.L31L|QKI_ENST00000275262.7_Silent_p.L31L|QKI_ENST00000361195.2_Silent_p.L31L|QKI_ENST00000392127.2_Silent_p.L31L	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	31					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	p.L31L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TGAGCAGCCTGCCCAACTTCT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											93	91	92			NA	NA	6		NA											NA				163836318		2203	4300	6503	SO:0001819	synonymous_variant			AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531	9444	9444			21100	protein-coding gene	gene with protein product		609590	quaking homolog, KH domain RNA binding (mouse)		NA	10535969	Standard	NM_006775	NM_006775	NA	Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.93G>A	6.37:g.163836318G>A		NA	Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	37	CCDS5285.1																																																																																			QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043016.2		+	ENST00000361752.3	Silent	SNP	6 : 163836318 - 163836318 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	428	73
NKX6-2	84504	broad.mit.edu	37	10	134598469	134598469	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134598469T>G	ENST00000368592.5	-	3	888	c.785A>C	c.(784-786)aAc>aCc	p.N262T		NM_177400.2	NP_796374	Q9C056	NKX62_HUMAN	NK6 homeobox 2	262						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(2)	3		all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05)		CAGCGCCAAGTTCGAGGGTTT	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	52	56			NA	NA	10		NA											NA				134598469		2195	4297	6492	SO:0001583	missense			AF184215	CCDS7670.1	10q26.3	2012-03-09	2007-07-09		ENSG00000148826	ENSG00000148826	84504	84504		Homeoboxes / ANTP class : NKL subclass	19321	protein-coding gene	gene with protein product		605955	NK6 transcription factor related, locus 2 (Drosophila)		NA	11210186	Standard		NM_177400	NA	Approved	NKX6B, GTX, NKX6.1	uc001llr.2	Q9C056	OTTHUMG00000019294	ENST00000368592.5:c.785A>C	10.37:g.134598469T>G	ENSP00000357581:p.Asn262Thr	NA	Q5JSF3	37	CCDS7670.1	.	.	.	.	.	.	.	.	.	.	T	12.30	1.895624	0.33442	.	.	ENSG00000148826	ENST00000368592	T	0.54071	0.59	3.07	1.92	0.25849	.	0.054125	0.64402	D	0.000001	T	0.42539	0.1207	L	0.60455	1.87	0.53688	D	0.999972	B	0.15473	0.013	B	0.14023	0.01	T	0.24440	-1.0160	10	0.34782	T	0.22	-28.5154	5.673	0.17733	0.0:0.0976:0.1703:0.7321	.	262	Q9C056	NKX62_HUMAN	T	262	ENSP00000357581:N262T	ENSP00000357581:N262T	N	-	2	0	NKX6-2	134448459	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.931000	0.28871	0.571000	0.29365	0.379000	0.24179	AAC	NKX6-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051093.2		-	ENST00000368592.5	Missense_Mutation	SNP	10 : 134598469 - 134598469 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	50
TECTA	7007	broad.mit.edu	37	11	120989026	120989026	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120989026C>T	ENST00000392793.1	+	7	1073	c.802C>T	c.(802-804)Cgg>Tgg	p.R268W	TECTA_ENST00000264037.2_Missense_Mutation_p.R268W			O75443	TECTA_HUMAN	tectorin alpha	268	VWFC.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACAATTCCTTCGGCGAGGGGA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	63	64			NA	NA	11		NA											NA				120989026		2203	4299	6502	SO:0001583	missense			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927	7007	7007			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21	NA	9503015, 9590290	Standard	NM_005422	NM_005422	NA	Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.802C>T	11.37:g.120989026C>T	ENSP00000376543:p.Arg268Trp	NA		37	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234424	0.79800	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.66099	-0.19;-0.19	5.66	5.66	0.87406	von Willebrand factor, type C (1);	0.065114	0.64402	D	0.000015	T	0.75459	0.3852	L	0.60455	1.87	0.35964	D	0.834817	D	0.89917	1.0	P	0.60609	0.877	T	0.80819	-0.1212	10	0.72032	D	0.01	.	19.7628	0.96329	0.0:1.0:0.0:0.0	.	268	O75443	TECTA_HUMAN	W	268	ENSP00000376543:R268W;ENSP00000264037:R268W	ENSP00000264037:R268W	R	+	1	2	TECTA	120494236	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.071000	0.50041	2.653000	0.90120	0.563000	0.77884	CGG	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313850.1		+	ENST00000392793.1	Missense_Mutation	SNP	11 : 120989026 - 120989026 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	256	45
NETO1	81832	broad.mit.edu	37	18	70417673	70417673	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:70417673C>T	ENST00000327305.6	-	9	1822	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	NETO1_ENST00000583169.1_Missense_Mutation_p.E389K|NETO1_ENST00000299430.2_Missense_Mutation_p.E388K	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	389					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TGAGGAGGTTCAAATACCTCC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	82	84			NA	NA	18		NA											NA				70417673		2203	4300	6503	SO:0001583	missense			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342	81832	81832			13823	protein-coding gene	gene with protein product		607973			NA	11943477, 12810072	Standard	NM_138999	NM_138999	NA	Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.1165G>A	18.37:g.70417673C>T	ENSP00000313088:p.Glu389Lys	NA	Q86W85|Q8ND78|Q8TDF4	37	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	C	34	5.408397	0.96051	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.44881	0.91;0.91	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000011	T	0.63105	0.2483	L	0.56769	1.78	0.80722	D	1	D;D	0.67145	0.996;0.986	D;P	0.76071	0.987;0.867	T	0.65043	-0.6264	10	0.72032	D	0.01	-21.3855	19.1774	0.93607	0.0:1.0:0.0:0.0	.	388;389	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	K	389;388	ENSP00000313088:E389K;ENSP00000299430:E388K	ENSP00000299430:E388K	E	-	1	0	NETO1	68568653	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.442000	0.80503	2.594000	0.87642	0.455000	0.32223	GAA	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256301.2		-	ENST00000327305.6	Missense_Mutation	SNP	18 : 70417673 - 70417673 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	400	76
ADNP	23394	broad.mit.edu	37	20	49510697	49510697	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:49510697T>C	ENST00000396029.3	-	5	1121	c.554A>G	c.(553-555)tAc>tGc	p.Y185C	ADNP_ENST00000349014.3_Missense_Mutation_p.Y185C|ADNP_ENST00000371602.4_Missense_Mutation_p.Y185C|ADNP_ENST00000396032.3_Missense_Mutation_p.Y185C	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	185						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						ATGTTCCCTGTAAATGTGCTT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	160	163			NA	NA	20		NA											NA				49510697		2203	4300	6503	SO:0001583	missense			AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126	23394	23394		Homeoboxes / ZF class	15766	protein-coding gene	gene with protein product	ADNP homeobox 1	611386	activity-dependent neuroprotector		NA	9872452, 11013255	Standard	NM_181442	NM_015339	NA	Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.554A>G	20.37:g.49510697T>C	ENSP00000379346:p.Tyr185Cys	NA	E1P5Y2|O94881|Q5BKU2|Q9UG34	37	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	T	16.97	3.267821	0.59540	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	6.08	6.08	0.98989	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.81884	0.4917	L	0.60455	1.87	0.58432	D	0.999999	D	0.76494	0.999	D	0.81914	0.995	T	0.81885	-0.0727	10	0.49607	T	0.09	-3.5076	16.6438	0.85155	0.0:0.0:0.0:1.0	.	185	Q9H2P0	ADNP_HUMAN	C	185	ENSP00000360662:Y185C;ENSP00000342905:Y185C;ENSP00000379346:Y185C;ENSP00000379349:Y185C	ENSP00000342905:Y185C	Y	-	2	0	ADNP	48944104	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.971000	0.70440	2.333000	0.79357	0.533000	0.62120	TAC	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079705.2		-	ENST00000396029.3	Missense_Mutation	SNP	20 : 49510697 - 49510697 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	627	146
C17orf80	55028	broad.mit.edu	37	17	71232128	71232128	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71232128T>C	ENST00000268942.8	+	3	701	c.507T>C	c.(505-507)gcT>gcC	p.A169A	C17orf80_ENST00000582793.1_Intron|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000359042.2_Silent_p.A169A|C17orf80_ENST00000426147.2_Silent_p.A169A|C17orf80_ENST00000577615.1_Silent_p.A169A|C17orf80_ENST00000255557.4_Silent_p.A169A|C17orf80_ENST00000535032.2_Silent_p.A169A	NM_001100621.1	NP_001094091	Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	169						integral to membrane				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			CTTCAGAAGCTGGAGCGTCTT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	83	82			NA	NA	17		NA											NA				71232128		2203	4300	6503	SO:0001819	synonymous_variant			AY163812	CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1	17q25.1	2012-02-24	2012-02-24	2012-02-24	ENSG00000141219	ENSG00000141219	55028	55028			29601	protein-coding gene	gene with protein product	sperm-expressed protein 1, migration-inducing protein 3				NA	12477932	Standard	NM_017941	NM_017941	NA	Approved	HLC-8, MIG3, FLJ20721, SPEP1	uc002jjl.4	Q9BSJ5		ENST00000268942.8:c.507T>C	17.37:g.71232128T>C		NA	A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	37	CCDS42377.1																																																																																			C17orf80-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000441890.1		+	ENST00000268942.8	Silent	SNP	17 : 71232128 - 71232128 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	620	121
MYLK	4638	broad.mit.edu	37	3	123452821	123452821	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123452821G>T	ENST00000360772.3	-	11	1400	c.1022C>A	c.(1021-1023)aCt>aAt	p.T341N	MYLK_ENST00000346322.5_Missense_Mutation_p.T341N|MYLK_ENST00000360304.3_Missense_Mutation_p.T341N|MYLK_ENST00000359169.1_Missense_Mutation_p.T341N|MYLK_ENST00000475616.1_Missense_Mutation_p.T341N			Q15746	MYLK_HUMAN	myosin light chain kinase	341					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGAGCTGGAAGTCTTCTGAAG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	68	66			NA	NA	3		NA											NA				123452821		2203	4300	6503	SO:0001583	missense			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	4638	4638	2.7.11.18	Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	7590	protein-coding gene	gene with protein product	smooth muscle myosin light chain kinase	600922	myosin, light polypeptide kinase		NA	8575746	Standard	NM_053025	NM_053026	NA	Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000360772.3:c.1022C>A	3.37:g.123452821G>T	ENSP00000354004:p.Thr341Asn	NA	O95796|O95797|O95798|O95799|Q14844|Q16794|Q5MY99|Q5MYA0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UIT9	37	CCDS3023.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.322766	0.41096	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.68025	-0.26;-0.2;-0.26;-0.3;-0.2	5.43	4.55	0.56014	.	.	.	.	.	T	0.60340	0.2261	L	0.29908	0.895	0.80722	D	1	P;B;P;B;P	0.48407	0.91;0.288;0.91;0.288;0.855	P;B;P;B;P	0.50791	0.65;0.22;0.65;0.22;0.448	T	0.54866	-0.8229	9	0.16896	T	0.51	.	11.3941	0.49832	0.0844:0.0:0.9156:0.0	.	341;341;341;341;341	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	N	341	ENSP00000354004:T341N;ENSP00000353452:T341N;ENSP00000352088:T341N;ENSP00000320622:T341N;ENSP00000418335:T341N	ENSP00000320622:T341N	T	-	2	0	MYLK	124935511	1.000000	0.71417	0.996000	0.52242	0.137000	0.21094	3.146000	0.50631	1.520000	0.48965	0.655000	0.94253	ACT	MYLK-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280599.2		-	ENST00000360772.3	Missense_Mutation	SNP	3 : 123452821 - 123452821 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	749	57
AGL	178	broad.mit.edu	37	1	100349724	100349724	+	Missense_Mutation	SNP	C	C	T	rs147586981		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100349724C>T	ENST00000294724.4	+	18	2835	c.2357C>T	c.(2356-2358)aCg>aTg	p.T786M	AGL_ENST00000361915.3_Missense_Mutation_p.T786M|AGL_ENST00000370161.2_Missense_Mutation_p.T770M|AGL_ENST00000361302.3_Missense_Mutation_p.T770M|AGL_ENST00000370165.3_Missense_Mutation_p.T786M|AGL_ENST00000361522.4_Missense_Mutation_p.T769M|AGL_ENST00000370163.3_Missense_Mutation_p.T786M	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	786					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GAGAGAAACACGAAACCTTAT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	102	110	107		2357,2357,2357,2357,2306,2309	2.9	0	1	dbSNP_134	107	0,8596		0,0,4298	no	missense,missense,missense,missense,missense,missense	AGL	NM_000028.2,NM_000642.2,NM_000643.2,NM_000644.2,NM_000645.2,NM_000646.2	81,81,81,81,81,81	0,1,6500	TT,TC,CC	NA	0.0,0.0227,0.0077	benign,benign,benign,benign,benign,benign	786/1533,786/1533,786/1533,786/1533,769/1516,770/1517	100349724	1,13001	2203	4298	6501	SO:0001583	missense			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	178	178	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	glycogen debranching enzyme, glycogen storage disease type III	610860	amylo-1, 6-glucosidase, 4-alpha-glucanotransferase		NA	1505983	Standard	NM_000028	NM_000028	NA	Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.2357C>T	1.37:g.100349724C>T	ENSP00000294724:p.Thr786Met	NA	A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	37	CCDS759.1	.	.	.	.	.	.	.	.	.	.	C	5.339	0.247814	0.10130	2.27E-4	0.0	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49	5.8	2.91	0.33838	.	0.294418	0.40064	N	0.001190	T	0.11922	0.0290	L	0.34521	1.04	0.09310	N	0.999997	B;B;B	0.31274	0.317;0.317;0.212	B;B;B	0.36989	0.238;0.238;0.12	T	0.13019	-1.0525	10	0.46703	T	0.11	.	10.9457	0.47299	0.0:0.7394:0.0:0.2606	.	769;770;786	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	M	786;786;786;786;770;770;769	ENSP00000355106:T786M;ENSP00000359184:T786M;ENSP00000359182:T786M;ENSP00000294724:T786M;ENSP00000354971:T770M;ENSP00000359180:T770M;ENSP00000354635:T769M	ENSP00000294724:T786M	T	+	2	0	AGL	100122312	0.001000	0.12720	0.014000	0.15608	0.097000	0.18754	0.478000	0.22212	0.788000	0.33755	-0.143000	0.13931	ACG	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029778.1		+	ENST00000294724.4	Missense_Mutation	SNP	1 : 100349724 - 100349724 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	23
ATP5F1	515	broad.mit.edu	37	1	111999344	111999344	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111999344T>G	ENST00000369722.3	+	5	1086	c.480T>G	c.(478-480)gtT>gtG	p.V160V	ATP5F1_ENST00000483994.1_Silent_p.V99V|ATP5F1_ENST00000369721.4_3'UTR	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	160					ATP catabolic process|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGGCACTGGTTCAGAAGCGCC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	111	113			NA	NA	1		NA											NA				111999344		2203	4300	6503	SO:0001819	synonymous_variant			X60221	CCDS836.1	1p13.2	2012-10-12	2010-06-11		ENSG00000116459	ENSG00000116459	515	515		Mitochondrial respiratory chain complex / Complex V, ATPases / F-type	840	protein-coding gene	gene with protein product		603270	ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b, isoform 1, ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1		NA	1831354	Standard	NM_001688	XM_005270929	NA	Approved		uc001ebc.3	P24539	OTTHUMG00000011745	ENST00000369722.3:c.480T>G	1.37:g.111999344T>G		NA	Q9BQ68|Q9BRU8	37	CCDS836.1																																																																																			ATP5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032455.1		+	ENST00000369722.3	Silent	SNP	1 : 111999344 - 111999344 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	763	75
TTC26	79989	broad.mit.edu	37	7	138824680	138824680	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138824680C>T	ENST00000343187.4	+	3	261	c.186C>T	c.(184-186)gtC>gtT	p.V62V	TTC26_ENST00000464848.1_Silent_p.V93V|TTC26_ENST00000478836.2_Silent_p.V93V|TTC26_ENST00000430935.1_Silent_p.V93V|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000474035.2_Silent_p.V93V|TTC26_ENST00000495038.1_Silent_p.V93V	NM_001144923.1	NP_001138395.1	A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	93							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						ATTCTGAAGTCTGGGTGAACC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	115	119			NA	NA	7		NA											NA				138824680		2203	4300	6503	SO:0001819	synonymous_variant			AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948	79989	79989		Intraflagellar transport homologs, Tetratricopeptide (TTC) repeat domain containing	21882	protein-coding gene	gene with protein product					NA		Standard	NM_024926	NM_001144920	NA	Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000343187.4:c.186C>T	7.37:g.138824680C>T		NA	A4D1S3|Q9H9S8|Q9NTC0	37	CCDS55173.1																																																																																			TTC26-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348920.1		+	ENST00000343187.4	Silent	SNP	7 : 138824680 - 138824680 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	438	76
MCF2	4168	broad.mit.edu	37	X	138727816	138727816	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:138727816G>A	ENST00000520602.1	-	4	427	c.142C>T	c.(142-144)Caa>Taa	p.Q48*	MCF2_ENST00000519895.1_Splice_Site_p.Q48*|MCF2_ENST00000414978.1_Splice_Site_p.Q48*|MCF2_ENST00000370578.4_Splice_Site_p.Q133*			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	0	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GATCCATTTTGCCTGAACGAT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	50	53			NA	NA	X		NA											NA				138727816		1815	4061	5876	SO:0001630	splice_region_variant				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977	4168	4168		Rho guanine nucleotide exchange factors	6940	protein-coding gene	gene with protein product	Oncogene MCF2 (oncogene DBL)	311030			NA	2577874, 1611909	Standard	NM_005369	NM_001099855	NA	Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000520602.1:c.141-1C>T	X.37:g.138727816G>A		NA	P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	37	CCDS48175.1	.	.	.	.	.	.	.	.	.	.	G	36	5.731937	0.96856	.	.	ENSG00000101977	ENST00000520602;ENST00000370578;ENST00000414978;ENST00000519895	.	.	.	5.54	4.66	0.58398	.	0.315629	0.30142	N	0.010301	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	10.5492	0.45079	0.0:0.0:0.6499:0.35	.	.	.	.	X	48;133;48;48	.	ENSP00000359610:Q133X	Q	-	1	0	MCF2	138555482	1.000000	0.71417	0.995000	0.50966	0.543000	0.35085	1.396000	0.34531	1.084000	0.41184	0.594000	0.82650	CAA	MCF2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058559.2	Nonsense_Mutation	-	ENST00000520602.1	Splice_Site	SNP	X : 138727816 - 138727816 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	88	21
FBN1	2200	broad.mit.edu	37	15	48703398	48703398	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48703398C>T	ENST00000316623.5	-	66	8860	c.8405G>A	c.(8404-8406)gGc>gAc	p.G2802D	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2802					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTTAAAGAAGCCATCTTCATT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	148	150			NA	NA	15		NA											NA				48703398		2198	4297	6495	SO:0001583	missense			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147	2200	2200			3603	protein-coding gene	gene with protein product	Marfan syndrome	134797	fibrillin 1 (Marfan syndrome)	FBN, MFS1, WMS	NA	10036187, 12525539	Standard		NM_000138	NA	Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.8405G>A	15.37:g.48703398C>T	ENSP00000325527:p.Gly2802Asp	NA	B2RUU0|Q15972|Q75N87	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775808	0.70107	.	.	ENSG00000166147	ENST00000316623	D	0.81821	-1.54	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.84813	0.5555	M	0.75615	2.305	0.80722	D	1	P	0.48834	0.916	P	0.48166	0.569	D	0.86549	0.1833	10	0.59425	D	0.04	.	18.5303	0.90989	0.0:1.0:0.0:0.0	.	2802	P35555	FBN1_HUMAN	D	2802	ENSP00000325527:G2802D	ENSP00000325527:G2802D	G	-	2	0	FBN1	46490690	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.585000	0.82584	2.785000	0.95823	0.650000	0.86243	GGC	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417355.1		-	ENST00000316623.5	Missense_Mutation	SNP	15 : 48703398 - 48703398 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	753	59
IGJ	3512	broad.mit.edu	37	4	71522187	71522187	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71522187G>T	ENST00000254801.4	-	4	508	c.339C>A	c.(337-339)atC>atA	p.I113I	ENAM_ENST00000472903.1_Intron|IGJ_ENST00000543780.1_Silent_p.I129I	NM_144646.3	NP_653247.1	P01591	IGJ_HUMAN	immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides	113					immune response	extracellular region	antigen binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			CTTCATCACAGATATTGCTCT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													180	145	157			NA	NA	4		NA											NA				71522187		2203	4300	6503	SO:0001819	synonymous_variant			M12759	CCDS3545.1	4q21	2012-10-02			ENSG00000132465	ENSG00000132465	3512	3512		Immunoglobulins / IGJ linker	5713	protein-coding gene	gene with protein product	immunoglobulin J chain, IgJ chain	147790			NA	3016707, 2984306	Standard	NM_144646	NM_144646	NA	Approved	IGCJ, JCH	uc003hfn.4	P01591	OTTHUMG00000129909	ENST00000254801.4:c.339C>A	4.37:g.71522187G>T		NA		37	CCDS3545.1																																																																																			IGJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252160.1		-	ENST00000254801.4	Silent	SNP	4 : 71522187 - 71522187 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	362	75
SEMA4A	64218	broad.mit.edu	37	1	156130351	156130351	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156130351G>A	ENST00000368285.3	+	7	952		c.e7+1		SEMA4A_ENST00000355014.2_Splice_Site|SEMA4A_ENST00000368286.2_Splice_Site|SEMA4A_ENST00000487358.1_Splice_Site|SEMA4A_ENST00000368284.1_Splice_Site|SEMA4A_ENST00000368282.1_Splice_Site	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	NA					axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TGGCTGCATCGTAAGGACCTG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	79	88			NA	NA	1		NA											NA				156130351		2203	4300	6503	SO:0001630	splice_region_variant			AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189	64218	64218		Semaphorins	10729	protein-coding gene	gene with protein product		607292		SEMAB	NA	7748561	Standard	NM_022367	NM_022367	NA	Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.685+1G>A	1.37:g.156130351G>A		NA	B2RDH8|Q5TCI5|Q8WUA9	37	CCDS1132.1	.	.	.	.	.	.	.	.	.	.	g	24.3	4.519794	0.85495	.	.	ENSG00000196189	ENST00000435124;ENST00000414683;ENST00000355014;ENST00000368285;ENST00000368284;ENST00000368283;ENST00000544376;ENST00000368286;ENST00000438830;ENST00000368282	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.099	0.89499	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SEMA4A	154396975	1.000000	0.71417	0.958000	0.39756	0.971000	0.66376	8.819000	0.91997	2.619000	0.88677	0.467000	0.42956	.	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039484.2	Intron	+	ENST00000368285.3	Splice_Site	SNP	1 : 156130351 - 156130351 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	203	44
ARCN1	372	broad.mit.edu	37	11	118454554	118454554	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118454554C>T	ENST00000359415.4	+	5	766	c.601C>T	c.(601-603)Cgt>Tgt	p.R201C	ARCN1_ENST00000264028.4_Missense_Mutation_p.R160C|ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000392859.3_Missense_Mutation_p.R72C			P48444	COPD_HUMAN	archain 1	160					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GGCTGAGATGCGTCGTAAAGC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	106	111			NA	NA	11		NA											NA				118454554		2200	4295	6495	SO:0001583	missense			X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139	372	372			649	protein-coding gene	gene with protein product		600820	coatomer protein complex, subunit delta	COPD	NA	7782067, 8854871	Standard		NM_001655	NA	Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000359415.4:c.601C>T	11.37:g.118454554C>T	ENSP00000352385:p.Arg201Cys	NA	Q52M80	37		.	.	.	.	.	.	.	.	.	.	C	20.6	4.020500	0.75275	.	.	ENSG00000095139	ENST00000392859;ENST00000359415;ENST00000542521;ENST00000264028	T;T;T	0.33216	1.43;1.42;1.43	6.01	2.78	0.32641	.	0.000000	0.85682	D	0.000000	T	0.47930	0.1472	M	0.61703	1.905	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.989	P;P;P	0.58266	0.548;0.836;0.517	T	0.57075	-0.7873	10	0.87932	D	0	-12.0251	16.3526	0.83220	0.3535:0.6465:0.0:0.0	.	72;201;160	E9PEU4;B0YIW6;P48444	.;.;COPD_HUMAN	C	72;201;160;160	ENSP00000376599:R72C;ENSP00000352385:R201C;ENSP00000264028:R160C	ENSP00000264028:R160C	R	+	1	0	ARCN1	117959764	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.781000	0.38644	0.846000	0.35142	-0.175000	0.13238	CGT	ARCN1-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000389275.1		+	ENST00000359415.4	Missense_Mutation	SNP	11 : 118454554 - 118454554 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	498	44
COL18A1	80781	broad.mit.edu	37	21	46893834	46893834	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46893834G>A	ENST00000359759.4	+	3	1943	c.1922G>A	c.(1921-1923)cGc>cAc	p.R641H	COL18A1_ENST00000400337.2_Missense_Mutation_p.R226H|COL18A1_ENST00000355480.5_Missense_Mutation_p.R406H			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	641	TSP N-terminal.				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTGAAGGTGCGCAGGGACCCC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG,HIS/ARG	0,4104		0,0,2052	32	36	35		1217,677	2.8	0.1	21		35	1,8363		0,1,4181	no	missense,missense	COL18A1	NM_030582.3,NM_130445.2	29,29	0,1,6233	AA,AG,GG	NA	0.012,0.0,0.0080	probably-damaging,probably-damaging	406/1520,226/1340	46893834	1,12467	2052	4182	6234	SO:0001583	missense				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871	80781	80781		Collagens	2195	protein-coding gene	gene with protein product	endostatin	120328	Knobloch syndrome, type 1	KNO	NA	8188291, 8776601, 10942434, 17546652	Standard		NM_130445	NA	Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.1922G>A	21.37:g.46893834G>A	ENSP00000352798:p.Arg641His	NA	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	37		.	.	.	.	.	.	.	.	.	.	G	7.098	0.573551	0.13623	0.0	1.2E-4	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645	T;T;T	0.02158	4.42;4.42;4.42	2.81	2.81	0.32909	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.405345	0.23598	N	0.046475	T	0.05823	0.0152	L	0.28556	0.865	0.33300	D	0.564707	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.75484	0.986;0.976;0.953	T	0.26916	-1.0089	10	0.56958	D	0.05	.	11.3718	0.49704	0.0:0.0:1.0:0.0	.	641;406;226	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	H	226;226;406;641;641	ENSP00000383191:R226H;ENSP00000347665:R406H;ENSP00000352798:R641H	ENSP00000347665:R406H	R	+	2	0	COL18A1	45718262	0.994000	0.37717	0.061000	0.19648	0.073000	0.16967	2.871000	0.48459	1.889000	0.54706	0.186000	0.17326	CGC	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000206827.1		+	ENST00000359759.4	Missense_Mutation	SNP	21 : 46893834 - 46893834 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	82	20
PGPEP1L	145814	broad.mit.edu	37	15	99511757	99511757	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99511757C>T	ENST00000535714.1	-	5	1184	c.379G>A	c.(379-381)Gcc>Acc	p.A127T	RP11-654A16.3_ENST00000559468.1_RNA|PGPEP1L_ENST00000378919.6_Missense_Mutation_p.A181T	NM_001167902.1	NP_001161374.1	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	181					proteolysis		cysteine-type peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						TCGAACTGGGCTCTGTGCTTG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	56	56			NA	NA	15		NA											NA				99511757		1930	4123	6053	SO:0001583	missense				CCDS53977.1, CCDS58400.1	15q26.3	2010-02-16			ENSG00000183571	ENSG00000183571	145814	145814			27080	protein-coding gene	gene with protein product					NA		Standard	NM_001102612.2	NM_001102612	NA	Approved		uc002bum.3	A6NFU8		ENST00000535714.1:c.379G>A	15.37:g.99511757C>T	ENSP00000437560:p.Ala127Thr	NA		37	CCDS58400.1	.	.	.	.	.	.	.	.	.	.	C	9.776	1.174029	0.21704	.	.	ENSG00000183571	ENST00000378919;ENST00000535714	T	0.31769	1.48	5.39	3.52	0.40303	.	.	.	.	.	T	0.13586	0.0329	N	0.08118	0	0.09310	N	1	B	0.23540	0.087	B	0.17433	0.018	T	0.31943	-0.9925	9	0.12430	T	0.62	.	7.48	0.27400	0.0:0.7385:0.0:0.2615	.	181	A6NFU8	PGPIL_HUMAN	T	181;174	ENSP00000368199:A181T	ENSP00000368199:A181T	A	-	1	0	PGPEP1L	97329280	0.004000	0.15560	0.004000	0.12327	0.005000	0.04900	0.273000	0.18662	0.669000	0.31146	0.655000	0.94253	GCC	PGPEP1L-002	PUTATIVE	upstream_uORF|basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415702.1		-	ENST00000535714.1	Missense_Mutation	SNP	15 : 99511757 - 99511757 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	132	18
TUBB2B	347733	broad.mit.edu	37	6	3227752	3227752	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:3227752G>A	ENST00000259818.7	-	1	217	c.26C>T	c.(25-27)gCg>gTg	p.A9V	TUBB2B_ENST00000473006.1_Intron	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B class IIb	9					'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GCACTGGCCCGCCTGGATGTG	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	44	44			NA	NA	6		NA											NA				3227752		2201	4299	6500	SO:0001583	missense			BC001352	CCDS4485.1	6p25.2	2011-10-10	2011-10-10		ENSG00000137285	ENSG00000137285	347733	347733		Tubulins	30829	protein-coding gene	gene with protein product	class IIb beta-tubulin	612850	tubulin, beta 2B		NA	8619474, 9110174	Standard	NM_178012	NM_178012	NA	Approved	MGC8685, DKFZp566F223, bA506K6.1	uc003mvg.3	Q9BVA1	OTTHUMG00000014143	ENST00000259818.7:c.26C>T	6.37:g.3227752G>A	ENSP00000259818:p.Ala9Val	NA	A8K068	37	CCDS4485.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806186	0.70682	.	.	ENSG00000137285	ENST00000259818	T	0.61158	0.13	4.34	4.34	0.51931	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.56097	D	0.000023	T	0.22704	0.0548	N	0.02973	-0.45	0.80722	D	1	B;B	0.23806	0.091;0.057	B;B	0.21151	0.033;0.018	T	0.25117	-1.0141	10	0.87932	D	0	.	17.4008	0.87459	0.0:0.0:1.0:0.0	.	9;9	Q8IZ29;Q9BVA1	.;TBB2B_HUMAN	V	9	ENSP00000259818:A9V	ENSP00000259818:A9V	A	-	2	0	TUBB2B	3172751	1.000000	0.71417	0.953000	0.39169	0.884000	0.51177	3.777000	0.55364	2.403000	0.81681	0.561000	0.74099	GCG	TUBB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039680.2		-	ENST00000259818.7	Missense_Mutation	SNP	6 : 3227752 - 3227752 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	311	55
KIAA0947	0	broad.mit.edu	37	5	5460762	5460762	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5460762A>T	ENST00000296564.7	+	13	1537	c.1315A>T	c.(1315-1317)Act>Tct	p.T439S		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN		439										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TAAAGTGACAACTTCTGGACT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	61	62			NA	NA	5		NA											NA				5460762		1955	4149	6104	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000296564.7:c.1315A>T	5.37:g.5460762A>T	ENSP00000296564:p.Thr439Ser	NA	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	37	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	A	9.189	1.025657	0.19512	.	.	ENSG00000164151	ENST00000296564	T	0.42900	0.96	4.04	-8.09	0.01090	.	1.297730	0.05004	N	0.469731	T	0.18923	0.0454	N	0.19112	0.55	0.09310	N	1	B	0.28291	0.206	B	0.25140	0.058	T	0.24621	-1.0155	10	0.06236	T	0.91	-3.1643	7.2261	0.26016	0.2062:0.4113:0.3824:0.0	.	439	Q9Y2F5	K0947_HUMAN	S	439	ENSP00000296564:T439S	ENSP00000296564:T439S	T	+	1	0	KIAA0947	5513762	0.000000	0.05858	0.000000	0.03702	0.355000	0.29361	-3.578000	0.00425	-1.119000	0.02958	0.254000	0.18369	ACT	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365575.1		+	ENST00000296564.7	Missense_Mutation	SNP	5 : 5460762 - 5460762 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	131	9
THAP4	51078	broad.mit.edu	37	2	242572459	242572459	+	Silent	SNP	G	G	A	rs149294304		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242572459G>A	ENST00000407315.1	-	2	1544	c.1113C>T	c.(1111-1113)ggC>ggT	p.G371G		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	371							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		TCTTCAGCTCGCCGTTCTTCT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	45	45			NA	NA	2		NA											NA				242572459		2203	4296	6499	SO:0001819	synonymous_variant			AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946	51078	51078		THAP (C2CH-type zinc finger) domain containing	23187	protein-coding gene	gene with protein product		612533			NA	12575992, 10810093	Standard	NM_015963	NM_015963	NA	Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.1113C>T	2.37:g.242572459G>A		NA	Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	37	CCDS2551.1																																																																																			THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257267.3		-	ENST00000407315.1	Silent	SNP	2 : 242572459 - 242572459 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	228	48
SGSH	6448	broad.mit.edu	37	17	78184610	78184610	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78184610A>C	ENST00000326317.6	-	8	1236	c.1150T>G	c.(1150-1152)Ttc>Gtc	p.F384V	SGSH_ENST00000534910.1_Missense_Mutation_p.F181V	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	384					proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			ACGAGGCGGAAGTGCCGGTGC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													193	169	177			NA	NA	17		NA											NA				78184610		2203	4300	6503	SO:0001583	missense			BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	6448	6448	3.10.1.1		10818	protein-coding gene	gene with protein product	sulfamidase, mucopolysaccharidosis type IIIA	605270			NA	7493035	Standard	NM_000199	NM_000199	NA	Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688		ENST00000326317.6:c.1150T>G	17.37:g.78184610A>C	ENSP00000314606:p.Phe384Val	NA	A8K5E2	37	CCDS11770.1	.	.	.	.	.	.	.	.	.	.	A	11.50	1.656211	0.29425	.	.	ENSG00000181523	ENST00000326317;ENST00000534910	D;D	0.96365	-3.99;-3.99	4.45	2.23	0.28157	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.133727	0.52532	D	0.000077	D	0.95459	0.8525	M	0.72479	2.2	0.37862	D	0.929755	B	0.33964	0.434	B	0.42959	0.403	D	0.94190	0.7440	10	0.72032	D	0.01	-28.2188	7.8443	0.29417	0.823:0.0:0.177:0.0	.	384	P51688	SPHM_HUMAN	V	384;181	ENSP00000314606:F384V;ENSP00000437778:F181V	ENSP00000314606:F384V	F	-	1	0	SGSH	75799205	0.995000	0.38212	0.768000	0.31515	0.149000	0.21700	3.137000	0.50562	0.573000	0.29400	0.459000	0.35465	TTC	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437695.1		-	ENST00000326317.6	Missense_Mutation	SNP	17 : 78184610 - 78184610 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	861	144
ZC2HC1A	51101	broad.mit.edu	37	8	79590871	79590871	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:79590871C>T	ENST00000263849.4	+	3	269	c.167C>T	c.(166-168)gCt>gTt	p.A56V	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN	zinc finger, C2HC-type containing 1A	56											NA						AGACAGAGAGCTGAAGGAACT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	127	125			NA	NA	8		NA											NA				79590871		2203	4299	6502	SO:0001583	missense				CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427	51101	51101		Zinc fingers, C2HC-type containing	24277	protein-coding gene	gene with protein product			chromosome 8 open reading frame 70, family with sequence similarity 164, member A	C8orf70, FAM164A	NA	10810093	Standard	NM_016010	NM_016010	NA	Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.167C>T	8.37:g.79590871C>T	ENSP00000263849:p.Ala56Val	NA	Q9Y372	37	CCDS6223.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976042	0.92982	.	.	ENSG00000104427	ENST00000263849	T	0.44482	0.92	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.52500	0.1738	L	0.28694	0.88	0.80722	D	1	D	0.71674	0.998	D	0.64144	0.922	T	0.39078	-0.9631	9	.	.	.	-22.669	19.8459	0.96707	0.0:1.0:0.0:0.0	.	56	Q96GY0	F164A_HUMAN	V	56	ENSP00000263849:A56V	.	A	+	2	0	FAM164A	79753426	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.207000	0.77899	2.788000	0.95919	0.585000	0.79938	GCT	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379423.2		+	ENST00000263849.4	Missense_Mutation	SNP	8 : 79590871 - 79590871 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	527	104
CCDC113	29070	broad.mit.edu	37	16	58292383	58292383	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58292383A>C	ENST00000219299.4	+	4	581	c.502A>C	c.(502-504)Act>Cct	p.T168P	CCDC113_ENST00000443128.2_Missense_Mutation_p.T114P	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	168						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						TATTTTGGCCACTCAGAAAGT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	79	80			NA	NA	16		NA											NA				58292383		2198	4300	6498	SO:0001583	missense			AL136785	CCDS10795.1, CCDS45497.1	16q21	2008-02-05			ENSG00000103021	ENSG00000103021	29070	29070			25002	protein-coding gene	gene with protein product					NA	11230166, 11042152	Standard	NM_014157	NM_014157	NA	Approved	HSPC065, DKFZp434N1418	uc002ene.3	Q9H0I3	OTTHUMG00000133489	ENST00000219299.4:c.502A>C	16.37:g.58292383A>C	ENSP00000219299:p.Thr168Pro	NA	B2RAQ7|Q9NZX2	37	CCDS10795.1	.	.	.	.	.	.	.	.	.	.	A	12.73	2.024128	0.35701	.	.	ENSG00000103021	ENST00000443128;ENST00000219299	T;T	0.32023	1.47;1.51	5.18	5.18	0.71444	.	0.171358	0.52532	D	0.000061	T	0.27384	0.0672	L	0.55103	1.725	0.34379	D	0.692857	B;B	0.23377	0.012;0.084	B;B	0.24269	0.012;0.052	T	0.32134	-0.9918	10	0.21540	T	0.41	-15.1493	9.5198	0.39129	0.8226:0.1774:0.0:0.0	.	114;168	B4DR20;Q9H0I3	.;CC113_HUMAN	P	114;168	ENSP00000402588:T114P;ENSP00000219299:T168P	ENSP00000219299:T168P	T	+	1	0	CCDC113	56849884	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.543000	0.36147	2.084000	0.62774	0.533000	0.62120	ACT	CCDC113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257387.2		+	ENST00000219299.4	Missense_Mutation	SNP	16 : 58292383 - 58292383 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	330	81
XKR3	150165	broad.mit.edu	37	22	17280674	17280674	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17280674C>T	ENST00000331428.5	-	3	678	c.576G>A	c.(574-576)tgG>tgA	p.W192*		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	192						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TATTCAAAGGCCATTCTCGTA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	146	148			NA	NA	22		NA											NA				17280674		1857	4098	5955	SO:0001587	stop_gained			AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967	150165	150165			28778	protein-coding gene	gene with protein product		611674	X Kell blood group precursor-related family, member 3		NA	16431037	Standard	NM_175878	NM_175878	NA	Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.576G>A	22.37:g.17280674C>T	ENSP00000331704:p.Trp192*	NA	B2RPN1|Q52PG8|Q8N7E1	37	CCDS42975.1	.	.	.	.	.	.	.	.	.	.	.	13.55	2.271058	0.40194	.	.	ENSG00000172967	ENST00000331428	.	.	.	0.762	0.762	0.18454	.	1.328570	0.06032	U	0.653304	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	3.9778	0.09481	0.4122:0.5877:0.0:0.0	.	.	.	.	X	192	.	ENSP00000331704:W192X	W	-	3	0	XKR3	15660674	0.155000	0.22806	0.040000	0.18447	0.013000	0.08279	-0.245000	0.08890	0.752000	0.32923	0.289000	0.19496	TGG	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000289789.1		-	ENST00000331428.5	Nonsense_Mutation	SNP	22 : 17280674 - 17280674 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	801	114
MCMDC2	157777	broad.mit.edu	37	8	67789596	67789596	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67789596C>A	ENST00000422365.2	+	5	469	c.298C>A	c.(298-300)Ctg>Atg	p.L100M	MCMDC2_ENST00000396592.3_Missense_Mutation_p.L100M|MCMDC2_ENST00000541540.1_Missense_Mutation_p.L37M|MCMDC2_ENST00000469823.1_3'UTR|MCMDC2_ENST00000313616.5_Missense_Mutation_p.L100M|MCMDC2_ENST00000492775.1_Missense_Mutation_p.L100M	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN	minichromosome maintenance domain containing 2	100					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						TAATATAGTGCTGAAATTAAC	0.279		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	61	62			NA	NA	8		NA											NA				67789596		2203	4300	6503	SO:0001583	missense			BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460	157777	157777			26368	protein-coding gene	gene with protein product			chromosome 8 open reading frame 45	C8orf45	NA		Standard	NM_173518	NM_173518	NA	Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.298C>A	8.37:g.67789596C>A	ENSP00000413632:p.Leu100Met	NA	B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	37	CCDS6197.2	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482776	0.63962	.	.	ENSG00000178460	ENST00000396592;ENST00000422365;ENST00000492775;ENST00000313616;ENST00000541540	T;T;T;T;T	0.32988	3.54;3.54;3.54;3.54;1.43	4.93	4.05	0.47172	.	0.163747	0.41823	D	0.000806	T	0.51109	0.1655	M	0.64997	1.995	0.49798	D	0.999828	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.999	T	0.50874	-0.8776	10	0.48119	T	0.1	-3.1261	13.4441	0.61129	0.0:0.9233:0.0:0.0767	.	37;100;100;100	Q4G0Z9-4;Q4G0Z9;B4DXX4;G3XAN3	.;CH045_HUMAN;.;.	M	100;100;100;100;37	ENSP00000379837:L100M;ENSP00000413632:L100M;ENSP00000428037:L100M;ENSP00000317234:L100M;ENSP00000445629:L37M	ENSP00000317234:L100M	L	+	1	2	C8orf45	67952150	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.260000	0.43267	1.175000	0.42826	0.591000	0.81541	CTG	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347350.1		+	ENST00000422365.2	Missense_Mutation	SNP	8 : 67789596 - 67789596 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	175	26
OR2A25	392138	broad.mit.edu	37	7	143772016	143772016	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143772016A>C	ENST00000408898.2	+	1	742	c.704A>C	c.(703-705)aAa>aCa	p.K235T		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GGGTGCCAGAAAGCCTTCTCC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	121	118			NA	NA	7		NA											NA				143772016		2163	4294	6457	SO:0001583	missense				CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933	392138	392138		GPCR / Class A : Olfactory receptors	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27	NA		Standard		NM_001004488	NA	Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.704A>C	7.37:g.143772016A>C	ENSP00000386167:p.Lys235Thr	NA	B2RNC9	37	CCDS43669.1	.	.	.	.	.	.	.	.	.	.	A	15.20	2.763942	0.49574	.	.	ENSG00000221933	ENST00000408898	T	0.00375	7.71	4.84	4.84	0.62591	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01695	0.0054	H	0.97023	3.925	0.43745	D	0.996242	D	0.89917	1.0	D	0.91635	0.999	T	0.10613	-1.0622	9	0.87932	D	0	-6.4599	12.4196	0.55512	1.0:0.0:0.0:0.0	.	235	A4D2G3	O2A25_HUMAN	T	235	ENSP00000386167:K235T	ENSP00000386167:K235T	K	+	2	0	OR2A25	143402949	1.000000	0.71417	1.000000	0.80357	0.196000	0.23810	7.003000	0.76310	2.030000	0.59900	0.460000	0.39030	AAA	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350000.1		+	ENST00000408898.2	Missense_Mutation	SNP	7 : 143772016 - 143772016 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	592	111
DIP2C	22982	broad.mit.edu	37	10	395299	395299	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:395299G>A	ENST00000280886.6	-	25	3168	c.3081C>T	c.(3079-3081)ggC>ggT	p.G1027G		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1027						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CCACGTGGTCGCCGTCCTGAA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	69	78			NA	NA	10		NA											NA				395299		2203	4300	6503	SO:0001819	synonymous_variant			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240	22982	22982			29150	protein-coding gene	gene with protein product		611380	KIAA0934	KIAA0934	NA		Standard	NM_014974	NM_014974	NA	Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3081C>T	10.37:g.395299G>A		NA	Q5SS78	37	CCDS7054.1																																																																																			DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046389.1		-	ENST00000280886.6	Silent	SNP	10 : 395299 - 395299 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	268	17
GTF2IRD1	9569	broad.mit.edu	37	7	73922483	73922483	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73922483A>G	ENST00000476977.1	+	2	1764	c.73A>G	c.(73-75)Acc>Gcc	p.T25A	GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.T25A|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.T25A|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.T25A			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	25						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTCCGCGTTCACCCGCAAAGA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	88	98			NA	NA	7		NA											NA				73922483		2203	4300	6503	SO:0001583	missense			AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704	9569	9569			4661	protein-coding gene	gene with protein product	binding factor for early enhancer	604318	GTF2I repeat domain-containing 1	WBSCR11	NA	9774679, 10198167	Standard	NM_016328	NM_016328	NA	Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000476977.1:c.73A>G	7.37:g.73922483A>G	ENSP00000418383:p.Thr25Ala	NA	O95444|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	37		.	.	.	.	.	.	.	.	.	.	A	6.080	0.383092	0.11524	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	T;T;T;T	0.27720	1.66;1.65;1.66;1.65	4.57	-9.15	0.00698	.	0.620792	0.14960	N	0.288424	T	0.06416	0.0165	N	0.02011	-0.69	0.09310	N	0.99999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.13656	-1.0501	10	0.23891	T	0.37	-5.8659	2.0117	0.03489	0.5072:0.14:0.1851:0.1676	.	25;25;25;25	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.;.;GT2D1_HUMAN;.	A	25	ENSP00000265755:T25A;ENSP00000397566:T25A;ENSP00000408477:T25A;ENSP00000418383:T25A	ENSP00000265755:T25A	T	+	1	0	GTF2IRD1	73560419	0.024000	0.19004	0.049000	0.19019	0.725000	0.41563	-0.315000	0.08081	-1.829000	0.01201	-0.441000	0.05720	ACC	GTF2IRD1-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000351531.1		+	ENST00000476977.1	Missense_Mutation	SNP	7 : 73922483 - 73922483 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	291	50
PCDHA12	56137	broad.mit.edu	37	5	140256686	140256686	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140256686G>A	ENST00000398631.2	+	1	1629	c.1629G>A	c.(1627-1629)ccG>ccA	p.P543P	PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1			protocadherin alpha 12	NA										NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGCGTGCCGCCTCTGGGCA	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(113;759 1672 13322 24104 50104)							NA				0								G	,,,,,,,,,,,,,,,	1,4405	2.1+/-5.4	0,1,2202	89	98	95		,,,1629,,,,,,,,,,,,1629	-4.8	0.3	5		95	1,8593	1.2+/-3.3	0,1,4296	no	intron,intron,intron,coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous	PCDHA9,PCDHA12,PCDHA11,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018901.2,NM_018902.3,NM_018903.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031860.1,NM_031864.1	,,,,,,,,,,,,,,,	0,2,6498	AA,AG,GG	NA	0.0116,0.0227,0.0154	,,,,,,,,,,,,,,,	,,,543/942,,,,,,,,,,,,543/793	140256686	2,12998	2203	4297	6500	SO:0001819	synonymous_variant			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664	56137	56137		Cadherins / Protocadherins : Clustered	8666	other	complex locus constituent	KIAA0345-like 2	606318			NA	10380929	Standard	NM_018903	NM_018903	NA	Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1629G>A	5.37:g.140256686G>A		NA		37	CCDS47285.1																																																																																			PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372882.2		+	ENST00000398631.2	Silent	SNP	5 : 140256686 - 140256686 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1186	232
CD248	57124	broad.mit.edu	37	11	66083499	66083499	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66083499C>T	ENST00000311330.3	-	1	1016	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	334	EGF-like; calcium-binding (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	CAATAACACTCGAAGCCACCA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	51	56			NA	NA	11		NA											NA				66083499		2200	4295	6495	SO:0001583	missense			AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807	57124	57124		CD molecules	18219	protein-coding gene	gene with protein product	endosialin, tumor endothelial marker 1	606064	CD164 sialomucin-like 1, CD248 antigen, endosialin	CD164L1	NA	10947988, 11084048	Standard	NM_020404	NM_020404	NA	Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.1000G>A	11.37:g.66083499C>T	ENSP00000308117:p.Glu334Lys	NA	Q2M2V5|Q3SX55|Q96KB6	37	CCDS8134.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611796	0.66558	.	.	ENSG00000174807	ENST00000311330	D	0.92149	-2.98	4.56	4.56	0.56223	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);	1.102050	0.07089	N	0.838496	D	0.93360	0.7883	L	0.27975	0.815	0.41655	D	0.989157	D	0.76494	0.999	D	0.69654	0.965	D	0.88052	0.2788	10	0.39692	T	0.17	-13.7102	14.8448	0.70251	0.0:1.0:0.0:0.0	.	334	Q9HCU0	CD248_HUMAN	K	334	ENSP00000308117:E334K	ENSP00000308117:E334K	E	-	1	0	CD248	65840075	0.943000	0.32029	0.996000	0.52242	0.741000	0.42261	1.916000	0.39986	2.350000	0.79820	0.462000	0.41574	GAG	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392922.2		-	ENST00000311330.3	Missense_Mutation	SNP	11 : 66083499 - 66083499 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	232	49
DNAJC21	134218	broad.mit.edu	37	5	34949740	34949740	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:34949740G>A	ENST00000382021.2	+	10	1505	c.1278G>A	c.(1276-1278)gaG>gaA	p.E426E	DNAJC21_ENST00000303525.7_Intron|DNAJC21_ENST00000512136.1_Intron|DNAJC21_ENST00000342382.4_Intron	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	395					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			gagatggagagagcgagcaca	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	86	87			NA	NA	5		NA											NA				34949740		2203	4300	6503	SO:0001819	synonymous_variant				CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724	134218	134218		Heat shock proteins / DNAJ (HSP40)	27030	protein-coding gene	gene with protein product	JJJ1 DnaJ domain protein homolog (S. cerevisiae)				NA	15067379	Standard	NM_194283	XM_005248250	NA	Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000382021.2:c.1278G>A	5.37:g.34949740G>A		NA	Q3B7J9|Q6P086|Q6ZS43|Q86VC6	37	CCDS3907.2																																																																																			DNAJC21-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157338.1		+	ENST00000382021.2	Silent	SNP	5 : 34949740 - 34949740 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	109	12
DACH2	117154	broad.mit.edu	37	X	85969592	85969592	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:85969592C>A	ENST00000373131.1	+	5	1097	c.934C>A	c.(934-936)Cca>Aca	p.P312T	DACH2_ENST00000510272.1_Missense_Mutation_p.P106T|DACH2_ENST00000508860.1_Missense_Mutation_p.P158T|DACH2_ENST00000373125.4_Missense_Mutation_p.P325T	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						TCCCCTACTTCCAGTCAGCTT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													193	158	170			NA	NA	X		NA											NA				85969592		2203	4300	6503	SO:0001583	missense			AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733	117154	117154			16814	protein-coding gene	gene with protein product		300608	dachshund homolog 2 (Drosophila)		NA		Standard	NM_053281	NM_053281	NA	Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373131.1:c.934C>A	X.37:g.85969592C>A	ENSP00000362223:p.Pro312Thr	NA	B1AJV3|Q8NAY3|Q8ND17|Q96N55	37	CCDS48140.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212561	0.79240	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297	D;D	0.85171	-1.94;-1.95	5.02	5.02	0.67125	.	0.000000	0.64402	D	0.000006	D	0.91314	0.7261	M	0.64404	1.975	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.981;0.982;0.999;0.999	D	0.92218	0.5782	10	0.66056	D	0.02	.	17.5775	0.87955	0.0:1.0:0.0:0.0	.	191;325;312;325	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	T	325;312;325;158;106;158	ENSP00000362223:P312T;ENSP00000362217:P325T	ENSP00000345134:P325T	P	+	1	0	DACH2	85856248	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.039000	0.76544	2.079000	0.62486	0.513000	0.50165	CCA	DACH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057407.1		+	ENST00000373131.1	Missense_Mutation	SNP	X : 85969592 - 85969592 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	637	182
GAS6	2621	broad.mit.edu	37	13	114541118	114541118	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114541118G>A	ENST00000327773.6	-	6	659	c.513C>T	c.(511-513)tgC>tgT	p.C171C	GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000355761.4_Silent_p.C117C|GAS6_ENST00000357389.3_Silent_p.C171C	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	171	EGF-like 2; calcium-binding (Potential).				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GCTTGTTGTGGCAGATCTGGA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	101	105			NA	NA	13		NA											NA				114541118		2203	4299	6502	SO:0001819	synonymous_variant				CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087	2621	2621			4168	protein-coding gene	gene with protein product	AXL stimulatory factor	600441		AXLLG	NA	8336730	Standard	NM_000820	NM_000820	NA	Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.513C>T	13.37:g.114541118G>A		NA	Q6IMN1|Q7Z7N3	37	CCDS45072.1																																																																																			GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045946.2		-	ENST00000327773.6	Silent	SNP	13 : 114541118 - 114541118 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	532	68
BTN3A1	11119	broad.mit.edu	37	6	26413464	26413464	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26413464G>A	ENST00000289361.6	+	10	1454	c.1086G>A	c.(1084-1086)gtG>gtA	p.V362V	BTN3A1_ENST00000476549.2_3'UTR|BTN3A1_ENST00000414912.2_Silent_p.V310V	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	362	B30.2/SPRY.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						AGAGGAGTGTGCAGCGTGCCA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	144	140			NA	NA	6		NA											NA				26413464		2203	4300	6503	SO:0001819	synonymous_variant			U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950	NA	11119		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Butyrophilins	1138	protein-coding gene	gene with protein product		613593			NA	9149941	Standard		NM_007048	NA	Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.1086G>A	6.37:g.26413464G>A		NA	A2A278|A8K2C8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	37	CCDS4608.1																																																																																			BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040112.3		+	ENST00000289361.6	Silent	SNP	6 : 26413464 - 26413464 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	616	124
POLK	51426	broad.mit.edu	37	5	74892094	74892094	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74892094C>T	ENST00000241436.4	+	13	1748	c.1576C>T	c.(1576-1578)Caa>Taa	p.Q526*	POLK_ENST00000504026.1_Intron|POLK_ENST00000352007.5_Nonsense_Mutation_p.Q328*|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000508526.1_Nonsense_Mutation_p.Q328*|POLK_ENST00000380481.3_Nonsense_Mutation_p.Q436*	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	526					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		GAAACACCAACAAAGGAGCAT	0.378		NA						DNA polymerases (catalytic subunits)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	53	52			NA	NA	5		NA											NA				74892094		2203	4300	6503	SO:0001587	stop_gained			AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008	51426	51426		DNA polymerases	9183	protein-coding gene	gene with protein product	polymerase (DNA-directed) kappa, DINB protein, DNA polymerase kappa	605650		DINB1	NA	10887153, 10518552	Standard	NM_016218	NM_016218	NA	Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.1576C>T	5.37:g.74892094C>T	ENSP00000241436:p.Gln526*	NA	B2RBD2|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	37	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	C	37	6.605983	0.97701	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000508526;ENST00000380481	.	.	.	5.66	5.66	0.87406	.	0.050091	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-15.8568	19.7417	0.96234	0.0:1.0:0.0:0.0	.	.	.	.	X	526;328;328;436	.	ENSP00000241436:Q526X	Q	+	1	0	POLK	74927850	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.627000	0.74258	2.661000	0.90470	0.655000	0.94253	CAA	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219945.3		+	ENST00000241436.4	Nonsense_Mutation	SNP	5 : 74892094 - 74892094 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	218	7
DCUN1D3	123879	broad.mit.edu	37	16	20871273	20871273	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20871273C>T	ENST00000324344.4	-	3	1135	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	DCUN1D3_ENST00000563934.1_Missense_Mutation_p.E284K|ERI2_ENST00000564349.1_Intron	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	NA					negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		CCTTCCCCTTCTCTTTTCCTT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	64	67			NA	NA	16		NA											NA				20871273		2201	4300	6501	SO:0001583	missense			BC040442	CCDS10592.1	16p12.3	2013-06-10	2013-06-10		ENSG00000188215	ENSG00000188215	123879	123879			28734	protein-coding gene	gene with protein product			DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae)		NA	15988528	Standard	NM_173475	NM_173475	NA	Approved	MGC48972, FLJ41725, DKFZp686O0290	uc002dhz.3	Q8IWE4	OTTHUMG00000131553	ENST00000324344.4:c.850G>A	16.37:g.20871273C>T	ENSP00000319482:p.Glu284Lys	NA	B3KVY4	37	CCDS10592.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.153360	0.57259	.	.	ENSG00000188215	ENST00000324344	.	.	.	6.08	6.08	0.98989	.	0.134496	0.64402	D	0.000003	T	0.51736	0.1692	L	0.34521	1.04	0.53688	D	0.999974	B	0.02656	0.0	B	0.04013	0.001	T	0.51196	-0.8736	9	0.06494	T	0.89	-27.7325	20.6634	0.99662	0.0:1.0:0.0:0.0	.	284	Q8IWE4	DCNL3_HUMAN	K	284	.	ENSP00000319482:E284K	E	-	1	0	DCUN1D3	20778774	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.324000	0.65863	2.894000	0.99253	0.655000	0.94253	GAA	DCUN1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254415.2		-	ENST00000324344.4	Missense_Mutation	SNP	16 : 20871273 - 20871273 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	199	23
MMP11	4320	broad.mit.edu	37	22	24123083	24123083	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24123083C>T	ENST00000215743.3	+	5	706	c.654C>T	c.(652-654)ggC>ggT	p.G218G	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	218					collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				ATGAATTTGGCCACGTGCTGG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	53	58			NA	NA	22		NA											NA				24123083		2203	4300	6503	SO:0001819	synonymous_variant				CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953	4320	4320			7157	protein-coding gene	gene with protein product		185261	matrix metalloproteinase 11 (stromelysin 3)	STMY3	NA	1639418, 7657606, 12006591	Standard	NM_005940	NM_005940	NA	Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.654C>T	22.37:g.24123083C>T		NA	Q5FX24|Q6PEZ6|Q9UC26	37	CCDS13816.1																																																																																			MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319891.2		+	ENST00000215743.3	Silent	SNP	22 : 24123083 - 24123083 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	176	47
CADPS2	93664	broad.mit.edu	37	7	122091518	122091518	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122091518A>G	ENST00000412584.2	-	14	2309	c.2189T>C	c.(2188-2190)aTt>aCt	p.I730T	CADPS2_ENST00000334010.7_Missense_Mutation_p.I734T|CADPS2_ENST00000449022.2_Missense_Mutation_p.I733T|CADPS2_ENST00000313070.7_Missense_Mutation_p.I730T	NM_001009571.3	NP_001009571.2	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	733					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AACAGTCCCAATTCCATCAGG	0.284		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	32	33			NA	NA	7		NA											NA				122091518		1786	4042	5828	SO:0001583	missense				CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803	93664	93664		Pleckstrin homology (PH) domain containing	16018	protein-coding gene	gene with protein product		609978	Ca++-dependent activator protein for secretion 2		NA		Standard	NM_017954	NM_017954	NA	Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000412584.2:c.2189T>C	7.37:g.122091518A>G	ENSP00000400401:p.Ile730Thr	NA	A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	37	CCDS47691.1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.017449	0.54576	.	.	ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.41	5.41	0.78517	.	0.057162	0.64402	D	0.000002	T	0.46229	0.1382	M	0.62723	1.935	0.51767	D	0.99993	P;P;P;P	0.44521	0.704;0.837;0.704;0.557	B;P;B;B	0.47044	0.139;0.535;0.139;0.107	T	0.50406	-0.8832	10	0.87932	D	0	-17.753	15.5048	0.75728	1.0:0.0:0.0:0.0	.	733;730;733;730	B7ZM57;Q86UW7-2;Q86UW7;Q86UW7-3	.;.;CAPS2_HUMAN;.	T	730;734;734;697;730;733	ENSP00000325581:I730T;ENSP00000333940:I734T;ENSP00000400401:I730T;ENSP00000398481:I733T	ENSP00000325581:I730T	I	-	2	0	CADPS2	121878754	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.464000	0.73534	2.063000	0.61619	0.477000	0.44152	ATT	CADPS2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347415.2		-	ENST00000412584.2	Missense_Mutation	SNP	7 : 122091518 - 122091518 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	160	25
MYH8	4626	broad.mit.edu	37	17	10299984	10299984	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10299984C>T	ENST00000403437.2	-	32	4508	c.4414G>A	c.(4414-4416)Gcc>Acc	p.A1472T	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1472					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTCTGGGAGGCCTCAAGTTCA	0.448		NA							Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	THR/ALA	5,4401	9.9+/-24.2	0,5,2198	103	105	105		4414	0.8	1	17		105	0,8600		0,0,4300	yes	missense	MYH8	NM_002472.2	58	0,5,6498	TT,TC,CC	NA	0.0,0.1135,0.0384	benign	1472/1938	10299984	5,13001	2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020	4626	4626		Myosins / Myosin superfamily : Class II	7578	protein-coding gene	gene with protein product		160741	myosin, heavy polypeptide 8, skeletal muscle, perinatal		NA	2373371	Standard	NM_002472	NM_002472	NA	Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.4414G>A	17.37:g.10299984C>T	ENSP00000384330:p.Ala1472Thr	NA	Q14910	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998557	0.54147	0.001135	0.0	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.82619	-1.63	5.26	0.808	0.18719	Myosin tail (1);	0.362158	0.19522	N	0.112257	T	0.72630	0.3484	L	0.36672	1.1	0.32477	N	0.541975	B	0.22003	0.063	B	0.24848	0.056	T	0.69764	-0.5057	10	0.59425	D	0.04	.	7.0599	0.25119	0.2492:0.6169:0.0:0.134	.	1472	P13535	MYH8_HUMAN	T	1472	ENSP00000384330:A1472T	ENSP00000252173:A1472T	A	-	1	0	MYH8	10240709	0.231000	0.23751	0.997000	0.53966	0.552000	0.35366	0.814000	0.27239	0.324000	0.23333	-0.133000	0.14855	GCC	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252724.2		-	ENST00000403437.2	Missense_Mutation	SNP	17 : 10299984 - 10299984 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	375	57
SENP7	57337	broad.mit.edu	37	3	101136544	101136544	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101136544A>C	ENST00000394095.2	-	5	428	c.375T>G	c.(373-375)tgT>tgG	p.C125W	SENP7_ENST00000348610.3_Missense_Mutation_p.C92W|SENP7_ENST00000394091.1_Intron|SENP7_ENST00000358203.3_Intron|SENP7_ENST00000394094.2_Missense_Mutation_p.C125W|SENP7_ENST00000314261.7_Intron	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	125					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGTTGGCATCACATAAATTAG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													187	181	183			NA	NA	3		NA											NA				101136544		1908	4129	6037	SO:0001583	missense				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468	57337	57337			30402	protein-coding gene	gene with protein product		612846	SUMO1/sentrin specific protease 7		NA	11214970, 11230166	Standard	NM_020654	NM_001282802	NA	Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.375T>G	3.37:g.101136544A>C	ENSP00000377655:p.Cys125Trp	NA	A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	37	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	A	17.67	3.445967	0.63178	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000348610	T;T;T	0.49432	0.78;0.78;0.78	5.52	3.06	0.35304	.	0.305274	0.28871	N	0.013865	T	0.58206	0.2106	L	0.53249	1.67	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.962	T	0.56001	-0.8051	10	0.66056	D	0.02	-1.7906	7.2869	0.26344	0.7807:0.1453:0.074:0.0	.	92;125	Q9BQF6-2;Q9BQF6	.;SENP7_HUMAN	W	125;125;92	ENSP00000377655:C125W;ENSP00000377654:C125W;ENSP00000342159:C92W	ENSP00000342159:C92W	C	-	3	2	SENP7	102619234	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.026000	0.57232	0.440000	0.26502	0.528000	0.53228	TGT	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313957.2		-	ENST00000394095.2	Missense_Mutation	SNP	3 : 101136544 - 101136544 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	590	111
VCAN	1462	broad.mit.edu	37	5	82789700	82789700	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82789700G>A	ENST00000265077.3	+	5	1263	c.698G>A	c.(697-699)cGt>cAt	p.R233H	VCAN_ENST00000342785.4_Missense_Mutation_p.R233H|VCAN_ENST00000513984.1_Missense_Mutation_p.R233H|VCAN_ENST00000502527.2_Missense_Mutation_p.R233H|VCAN_ENST00000343200.5_Missense_Mutation_p.R233H|VCAN_ENST00000512590.2_Missense_Mutation_p.R185H	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	233	Link 1.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TATGGATTCCGTTCTCCCCAG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													212	193	200			NA	NA	5		NA											NA				82789700		2203	4300	6503	SO:0001583	missense			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427	1462	1462		Immunoglobulin superfamily / V-set domain containing, Proteoglycans / Extracellular Matrix : Hyalectans	2464	protein-coding gene	gene with protein product	versican proteoglycan	118661	chondroitin sulfate proteoglycan 2	CSPG2	NA	1478664, 21063030	Standard	NM_004385	NM_004385	NA	Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.698G>A	5.37:g.82789700G>A	ENSP00000265077:p.Arg233His	NA	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	34	5.405481	0.96051	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000513960;ENST00000513984;ENST00000502527	T;T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53;2.53	5.97	5.97	0.96955	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.000000	0.64402	D	0.000014	T	0.56108	0.1963	H	0.96633	3.855	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;0.998	T	0.70324	-0.4903	10	0.87932	D	0	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	233;233;233;233;233	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	H	233;233;233;185;233;233;233	ENSP00000265077:R233H;ENSP00000340062:R233H;ENSP00000342768:R233H;ENSP00000425959:R185H;ENSP00000426251:R233H;ENSP00000426715:R233H;ENSP00000421362:R233H	ENSP00000265077:R233H	R	+	2	0	VCAN	82825456	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	9.869000	0.99810	2.836000	0.97738	0.655000	0.94253	CGT	VCAN-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254092.3		+	ENST00000265077.3	Missense_Mutation	SNP	5 : 82789700 - 82789700 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	529	131
FCAR	2204	broad.mit.edu	37	19	55401222	55401222	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55401222G>A	ENST00000355524.3	+	5	867	c.857G>A	c.(856-858)tGc>tAc	p.C286Y	FCAR_ENST00000345937.4_Missense_Mutation_p.C190Y|FCAR_ENST00000359272.4_Missense_Mutation_p.C274Y|FCAR_ENST00000391725.3_Missense_Mutation_p.C264Y|FCAR_ENST00000353758.4_Missense_Mutation_p.C177Y|FCAR_ENST00000391724.3_Missense_Mutation_p.C252Y|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391723.3_3'UTR|FCAR_ENST00000391726.3_Missense_Mutation_p.C178Y	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	286					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CCAAGTGTCTGCAAGTAAACA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	81	80			NA	NA	19		NA											NA				55401222		2203	4300	6503	SO:0001583	missense			X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431	2204	2204		CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	3608	protein-coding gene	gene with protein product		147045			NA	1577457	Standard	NM_002000	NM_133269	NA	Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.857G>A	19.37:g.55401222G>A	ENSP00000347714:p.Cys286Tyr	NA	Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q92590	37	CCDS12907.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532216	0.27387	.	.	ENSG00000186431	ENST00000391726;ENST00000355524;ENST00000391725;ENST00000345937;ENST00000353758;ENST00000359272;ENST00000391724	T;T;T;T;T;T;T	0.03831	3.79;6.83;6.46;4.79;6.52;6.65;6.32	2.46	-4.92	0.03075	.	.	.	.	.	T	0.07999	0.0200	L	0.29908	0.895	0.09310	N	1	D;D;P;D;D;P;D	0.65815	0.995;0.98;0.654;0.99;0.98;0.483;0.976	D;D;B;P;D;B;D	0.72982	0.979;0.962;0.254;0.781;0.962;0.118;0.923	T	0.12811	-1.0533	9	0.87932	D	0	.	3.4708	0.07566	0.1373:0.1611:0.5515:0.1502	.	177;252;178;274;264;190;286	Q92592;Q92593;Q92587;Q9UEK0;Q53X39;P24071-3;P24071	.;.;.;.;.;.;FCAR_HUMAN	Y	178;286;264;190;177;274;252	ENSP00000375606:C178Y;ENSP00000347714:C286Y;ENSP00000375605:C264Y;ENSP00000338257:C190Y;ENSP00000338058:C177Y;ENSP00000352218:C274Y;ENSP00000375604:C252Y	ENSP00000338257:C190Y	C	+	2	0	FCAR	60093034	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.608000	0.02068	-1.199000	0.02666	-0.262000	0.10625	TGC	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000141243.1		+	ENST00000355524.3	Missense_Mutation	SNP	19 : 55401222 - 55401222 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	624	118
DMRTC2	63946	broad.mit.edu	37	19	42352907	42352907	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42352907G>A	ENST00000269945.3	+	5	543	c.492G>A	c.(490-492)tcG>tcA	p.S164S	DMRTC2_ENST00000596827.1_Silent_p.S164S	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	164	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						CGGAAGCCTCGCCCTTGTCCT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	92	89			NA	NA	19		NA											NA				42352907		2203	4300	6503	SO:0001819	synonymous_variant			AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025	63946	63946			13911	protein-coding gene	gene with protein product		614806			NA	11863363	Standard	NM_001040283	NM_001040283	NA	Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.492G>A	19.37:g.42352907G>A		NA	Q8N6Q2|Q96M39|Q96SD4	37	CCDS33034.1																																																																																			DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463045.1		+	ENST00000269945.3	Silent	SNP	19 : 42352907 - 42352907 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	990	306
GALNT15	117248	broad.mit.edu	37	3	16254087	16254087	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:16254087T>G	ENST00000437509.1	+	6	1652	c.1209T>G	c.(1207-1209)tgT>tgG	p.C403W	GALNT15_ENST00000339732.5_Missense_Mutation_p.C403W					polypeptide N-acetylgalactosaminyltransferase 15	NA											NA						CCTGGCTCTGTGGTGGCTCTG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	55	59			NA	NA	3		NA											NA				16254087		2203	4300	6503	SO:0001583	missense			AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	117248	117248	2.4.1.41	Glycosyltransferase family 2 domain containing	21531	protein-coding gene	gene with protein product	polypeptide GalNAc transferase 15	615131	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2, UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15	GALNTL2	NA	12975309, 14702039, 15147861	Standard	NM_054110	NM_054110	NA	Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000437509.1:c.1209T>G	3.37:g.16254087T>G	ENSP00000395873:p.Cys403Trp	NA		37		.	.	.	.	.	.	.	.	.	.	T	11.66	1.703630	0.30232	.	.	ENSG00000131386	ENST00000339732;ENST00000437509	T;T	0.67171	-0.25;-0.25	5.14	-1.84	0.07809	.	0.000000	0.85682	D	0.000000	D	0.86272	0.5893	H	0.97940	4.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86044	0.1521	10	0.87932	D	0	.	13.1101	0.59268	0.0:0.3995:0.0:0.6005	.	403	Q8N3T1	GLTL2_HUMAN	W	403	ENSP00000344260:C403W;ENSP00000395873:C403W	ENSP00000344260:C403W	C	+	3	2	GALNTL2	16229091	0.947000	0.32204	0.776000	0.31678	0.225000	0.24961	-0.038000	0.12144	-1.032000	0.03304	-2.060000	0.00399	TGT	GALNT15-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000346609.1		+	ENST00000437509.1	Missense_Mutation	SNP	3 : 16254087 - 16254087 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	244	46
MFAP3L	9848	broad.mit.edu	37	4	170926947	170926947	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:170926947C>T	ENST00000393702.3	-	3	699	c.82G>A	c.(82-84)Gct>Act	p.A28T	MFAP3L_ENST00000506110.1_Missense_Mutation_p.A28T|MFAP3L_ENST00000361618.3_Missense_Mutation_p.A28T			O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	28						integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		ACACTCTTAGCGGTGGCTAGA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	104	104			NA	NA	4		NA											NA				170926947		2203	4300	6503	SO:0001583	missense			AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948	9848	9848		Immunoglobulin superfamily / I-set domain containing	29083	protein-coding gene	gene with protein product					NA	9734811	Standard	NM_021647	XM_005263366	NA	Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000393702.3:c.82G>A	4.37:g.170926947C>T	ENSP00000377305:p.Ala28Thr	NA	A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	37		.	.	.	.	.	.	.	.	.	.	C	14.29	2.491441	0.44249	.	.	ENSG00000198948	ENST00000361618;ENST00000393702;ENST00000506110;ENST00000504999;ENST00000506764;ENST00000510306	D;D;D;D;D	0.88431	-1.83;-2.38;-2.38;-2.37;-2.05	5.58	4.74	0.60224	.	0.260548	0.38381	N	0.001701	D	0.85137	0.5628	M	0.64997	1.995	0.34562	D	0.712501	P	0.50710	0.938	B	0.35607	0.206	D	0.88835	0.3308	10	0.38643	T	0.18	0.1232	14.6576	0.68844	0.1455:0.8545:0.0:0.0	.	28	O75121	MFA3L_HUMAN	T	28	ENSP00000354583:A28T;ENSP00000377305:A28T;ENSP00000422571:A28T;ENSP00000425303:A28T;ENSP00000426247:A28T	ENSP00000354583:A28T	A	-	1	0	MFAP3L	171163522	1.000000	0.71417	0.143000	0.22291	0.001000	0.01503	3.465000	0.53064	1.487000	0.48415	-0.152000	0.13540	GCT	MFAP3L-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000363045.2		-	ENST00000393702.3	Missense_Mutation	SNP	4 : 170926947 - 170926947 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	337	26
LRP1B	53353	broad.mit.edu	37	2	141533752	141533752	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141533752T>G	ENST00000389484.3	-	33	6386	c.5415A>C	c.(5413-5415)aaA>aaC	p.K1805N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1805					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCCGTCTCTTTTGCTGCAGG	0.383		NA								TSP Lung(27;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(99;50 2074 2507 20106)							NA				0													126	122	123			NA	NA	2		NA											NA				141533752		2203	4300	6503	SO:0001583	missense			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702	53353	53353		Low density lipoprotein receptors	6693	protein-coding gene	gene with protein product	LRP-deleted in tumors	608766			NA	10766186	Standard	NM_018557	NM_018557	NA	Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5415A>C	2.37:g.141533752T>G	ENSP00000374135:p.Lys1805Asn	NA	Q8WY29|Q8WY30|Q8WY31	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	18.03	3.532527	0.64972	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91843	-2.92	5.69	4.54	0.55810	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.96642	0.8904	M	0.94101	3.495	0.46096	D	0.998861	D	0.76494	0.999	D	0.80764	0.994	D	0.96344	0.9253	10	0.56958	D	0.05	.	11.3858	0.49785	0.0:0.0704:0.0:0.9296	.	1805	Q9NZR2	LRP1B_HUMAN	N	1805;1743	ENSP00000374135:K1805N	ENSP00000374135:K1805N	K	-	3	2	LRP1B	141250222	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.091000	0.41691	1.010000	0.39314	0.482000	0.46254	AAA	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254736.2		-	ENST00000389484.3	Missense_Mutation	SNP	2 : 141533752 - 141533752 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	448	39
TAB1	10454	broad.mit.edu	37	22	39822803	39822803	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39822803C>T	ENST00000331454.3	+	9	1036	c.1017C>T	c.(1015-1017)agC>agT	p.S339S	TAB1_ENST00000216160.6_Silent_p.S339S	NM_153497.2	NP_705717.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	339	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|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	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						GCATCCACAGCGACACCTTCG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	88	92			NA	NA	22		NA											NA				39822803		2203	4300	6503	SO:0001819	synonymous_variant			U49928	CCDS13992.1, CCDS13993.1	22q13.1	2010-02-05	2010-02-05	2010-02-05	ENSG00000100324	ENSG00000100324	10454	10454			18157	protein-coding gene	gene with protein product	TAK1-binding protein 1, mitogen-activated protein kinase kinase kinase 7 interacting protein 1	602615	mitogen-activated protein kinase kinase kinase 7 interacting protein 1	MAP3K7IP1	NA	8638164, 10187861	Standard	NM_153497	NM_153497	NA	Approved		uc003axt.3	Q15750	OTTHUMG00000151102	ENST00000331454.3:c.1017C>T	22.37:g.39822803C>T		NA	Q2PP09	37	CCDS13992.1																																																																																			TAB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321314.1		+	ENST00000331454.3	Silent	SNP	22 : 39822803 - 39822803 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	568	140
CSMD3	114788	broad.mit.edu	37	8	113518958	113518958	+	Silent	SNP	G	G	A	rs139092367	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113518958G>A	ENST00000297405.5	-	29	5101	c.4857C>T	c.(4855-4857)acC>acT	p.T1619T	CSMD3_ENST00000352409.3_Silent_p.T1619T|CSMD3_ENST00000455883.2_Silent_p.T1515T|CSMD3_ENST00000343508.3_Silent_p.T1579T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1619	CUB 9.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGCATTGACGGTGATAGTCC	0.398		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G	4	0.0018	0.01	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0018	1	LOWCOV,EXOME	NA	NA	0.0035	SNP								NA				0								G	,,	23,4383	29.9+/-59.1	0,23,2180	148	138	141		4545,4857,4737	-10	0	8	dbSNP_134	141	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	,,	0,23,6480	AA,AG,GG	NA	0.0,0.522,0.1768	,,	1515/3539,1619/3708,1579/3668	113518958	23,12983	2203	4300	6503	SO:0001819	synonymous_variant			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796	114788	114788			19291	protein-coding gene	gene with protein product		608399			NA		Standard	NM_052900	NM_052900	NA	Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4857C>T	8.37:g.113518958G>A		NA	Q96PZ3	37	CCDS6315.1																																																																																			CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347141.1		-	ENST00000297405.5	Silent	SNP	8 : 113518958 - 113518958 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	578	95
ABCA13	154664	broad.mit.edu	37	7	48378016	48378016	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48378016G>A	ENST00000435803.1	+	29	10192	c.10168G>A	c.(10168-10170)Gat>Aat	p.D3390N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3390					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GTTGCACATTGATGTAGACAA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	60	60			NA	NA	7		NA											NA				48378016		1892	4104	5996	SO:0001583	missense			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869	154664	154664		ATP binding cassette transporters / subfamily A	14638	protein-coding gene	gene with protein product		607807			NA	12697998	Standard	NM_152701	NM_152701	NA	Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.10168G>A	7.37:g.48378016G>A	ENSP00000411096:p.Asp3390Asn	NA	Q6ZTT7|Q86WI2|Q8N248	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.935998	0.52972	.	.	ENSG00000179869	ENST00000435803	D	0.84944	-1.92	5.43	5.43	0.79202	.	0.000000	0.51477	D	0.000085	D	0.89574	0.6754	L	0.56199	1.76	0.80722	D	1	P;D	0.71674	0.859;0.998	B;D	0.70935	0.301;0.971	D	0.88033	0.2776	10	0.34782	T	0.22	.	14.7439	0.69477	0.0:0.0:1.0:0.0	.	1092;3390	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	N	3390	ENSP00000411096:D3390N	ENSP00000411096:D3390N	D	+	1	0	ABCA13	48348562	0.998000	0.40836	0.053000	0.19242	0.011000	0.07611	2.561000	0.45905	2.527000	0.85204	0.563000	0.77884	GAT	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341964.2		+	ENST00000435803.1	Missense_Mutation	SNP	7 : 48378016 - 48378016 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	53	7
ZNF24	7572	broad.mit.edu	37	18	32917607	32917607	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:32917607G>A	ENST00000589881.1	-	0	2002				ZNF24_ENST00000399061.3_Silent_p.T232T|ZNF24_ENST00000261332.6_Silent_p.T232T			P17028	ZNF24_HUMAN	zinc finger protein 24	NA					myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						TGGGGAAACAGGTTTCTCCAT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(42;769 913 8916 19469 46270)							NA				0													89	99	95			NA	NA	18		NA											NA				32917607		2203	4298	6501	SO:0001624	3_prime_UTR_variant			AF016052	CCDS11912.1	18q12	2013-01-09	2006-05-10		ENSG00000172466	ENSG00000172466	7572	7572		-, Zinc fingers, C2H2-type	13032	protein-coding gene	gene with protein product		194534	zinc finger protein 24 (KOX 17)	ZNF191	NA		Standard	NM_006965	NM_006965	NA	Approved	ZSCAN3, Zfp191, KOX17	uc002kys.2	P17028	OTTHUMG00000132565	ENST00000589881.1:c.*1417C>T	18.37:g.32917607G>A		NA	O14754|Q53YE4|Q6ICR5|Q8IZN4	37																																																																																				ZNF24-003	KNOWN	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000442598.2		-	ENST00000589881.1	3'UTR	SNP	18 : 32917607 - 32917607 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	496	97
ICK	22858	broad.mit.edu	37	6	52895864	52895864	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52895864G>A	ENST00000350082.5	-	5	703	c.357C>T	c.(355-357)caC>caT	p.H119H	ICK_ENST00000356971.3_Splice_Site_p.H119H	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	119	Protein kinase.			H -> L (in Ref. 1; AAF37278).	intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					ATCACCTACCGTGTTTGTGAA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	84	89			NA	NA	6		NA											NA				52895864		2203	4300	6503	SO:0001630	splice_region_variant			AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144	22858	22858			21219	protein-coding gene	gene with protein product		612325			NA	12103360	Standard	NM_016513	NM_014920	NA	Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.358+1C>T	6.37:g.52895864G>A		NA	A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	37	CCDS4949.1																																																																																			ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040952.1	Silent	-	ENST00000350082.5	Splice_Site	SNP	6 : 52895864 - 52895864 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	65
CYP4F2	8529	broad.mit.edu	37	19	16000481	16000481	+	Missense_Mutation	SNP	C	C	T	rs144233412	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16000481C>T	ENST00000221700.6	-	7	765	c.670G>A	c.(670-672)Gcc>Acc	p.A224T	CYP4F2_ENST00000011989.7_Missense_Mutation_p.A75T	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	NA					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCCAAGATGGCGGCAATATAT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	118	116			NA	NA	19		NA											NA				16000481		2203	4300	6503	SO:0001583	missense			U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115	8529	8529		Cytochrome P450s	2645	protein-coding gene	gene with protein product		604426	cytochrome P450, subfamily IVF, polypeptide 2		NA	8424651, 8026587	Standard	NM_001082	NM_001082	NA	Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.670G>A	19.37:g.16000481C>T	ENSP00000221700:p.Ala224Thr	NA	A8K425|Q16677|Q6NWT4|Q6NWT6|Q9NNZ0|Q9UIU8	37	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	c	17.23	3.336851	0.60963	.	.	ENSG00000186115	ENST00000221700;ENST00000392846;ENST00000011989	T;T	0.70869	-0.52;-0.52	2.72	0.391	0.16282	.	0.000000	0.64402	U	0.000006	T	0.67163	0.2864	M	0.74546	2.27	0.40763	D	0.983027	P;B	0.45078	0.85;0.286	P;B	0.45232	0.474;0.19	T	0.63207	-0.6689	10	0.52906	T	0.07	.	4.7122	0.12879	0.2133:0.657:0.0:0.1297	.	75;224	B4DV75;P78329	.;CP4F2_HUMAN	T	224;75;75	ENSP00000221700:A224T;ENSP00000011989:A75T	ENSP00000011989:A75T	A	-	1	0	CYP4F2	15861481	0.589000	0.26807	0.167000	0.22817	0.942000	0.58702	1.084000	0.30828	0.028000	0.15324	0.305000	0.20034	GCC	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460372.3		-	ENST00000221700.6	Missense_Mutation	SNP	19 : 16000481 - 16000481 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	865	165
CASP5	838	broad.mit.edu	37	11	104871201	104871201	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104871201C>T	ENST00000260315.3	-	6	738	c.739G>A	c.(739-741)Gca>Aca	p.A247T	CASP5_ENST00000526056.1_Missense_Mutation_p.A260T|CASP5_ENST00000444749.2_Missense_Mutation_p.A189T|CASP5_ENST00000393141.2_Missense_Mutation_p.A260T|CASP5_ENST00000418434.1_Missense_Mutation_p.A105T|CASP5_ENST00000531367.1_Missense_Mutation_p.A105T|CASP5_ENST00000393139.2_3'UTR			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	247					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GCAGCAAATGCCCTCAGCACT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	83	86			NA	NA	11		NA											NA				104871201		2202	4299	6501	SO:0001583	missense				CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757	838	838		Caspases	1506	protein-coding gene	gene with protein product		602665	caspase 5, apoptosis-related cysteine protease		NA	7797592, 9250871	Standard	NM_004347	NM_004347	NA	Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.739G>A	11.37:g.104871201C>T	ENSP00000260315:p.Ala247Thr	NA	B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	37	CCDS8328.2	.	.	.	.	.	.	.	.	.	.	.	5.411	0.260999	0.10239	.	.	ENSG00000137757	ENST00000393141;ENST00000418434;ENST00000260315;ENST00000444749;ENST00000526056;ENST00000531367	T;T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1;2.1	4.06	-0.909	0.10514	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.945475	0.08952	N	0.870019	T	0.16300	0.0392	L	0.56340	1.77	0.09310	N	1	B;B;B;B	0.30033	0.016;0.056;0.266;0.122	B;B;B;B	0.19946	0.013;0.009;0.027;0.016	T	0.29792	-1.0000	10	0.20519	T	0.43	.	7.7663	0.28982	0.0:0.4791:0.0:0.5209	.	105;189;247;260	P51878-3;P51878-2;P51878;P51878-5	.;.;CASP5_HUMAN;.	T	260;105;247;189;260;105	ENSP00000376849:A260T;ENSP00000398130:A105T;ENSP00000260315:A247T;ENSP00000388365:A189T;ENSP00000436877:A260T;ENSP00000434471:A105T	ENSP00000260315:A247T	A	-	1	0	CASP5	104376411	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.648000	0.05391	-0.001000	0.14495	0.205000	0.17691	GCA	CASP5-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109397.2		-	ENST00000260315.3	Missense_Mutation	SNP	11 : 104871201 - 104871201 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	318	45
PDIA3	2923	broad.mit.edu	37	15	44062493	44062493	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44062493G>A	ENST00000300289.5	+	11	1460	c.1312G>A	c.(1312-1314)Gcc>Acc	p.A438T	PDIA3_ENST00000538521.1_Missense_Mutation_p.A418T	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	438	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		GGATGCCACAGCCAATGATGT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	68	70			NA	NA	15		NA											NA				44062493		2198	4298	6496	SO:0001583	missense				CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	2923	2923	5.3.4.1	Protein disulfide isomerases	4606	protein-coding gene	gene with protein product		602046	glucose regulated protein, 58kDa, protein disulfide isomerase-associated 3	GRP58	NA	8974399	Standard	NM_005313	NM_005313	NA	Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444	ENST00000300289.5:c.1312G>A	15.37:g.44062493G>A	ENSP00000300289:p.Ala438Thr	NA	Q13453|Q14255|Q8IYF8|Q9UMU7	37	CCDS10101.1	.	.	.	.	.	.	.	.	.	.	G	35	5.477466	0.96291	.	.	ENSG00000167004	ENST00000300289;ENST00000538826;ENST00000537673;ENST00000538521	T;T	0.23147	1.92;1.92	6.04	6.04	0.98038	Thioredoxin domain (1);Thioredoxin-like fold (3);Disulphide isomerase (1);	0.089021	0.85682	D	0.000000	T	0.51278	0.1665	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.972;0.988	T	0.43940	-0.9360	10	0.87932	D	0	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	418;438	G5EA52;P30101	.;PDIA3_HUMAN	T	438;413;212;418	ENSP00000300289:A438T;ENSP00000438260:A418T	ENSP00000300289:A438T	A	+	1	0	PDIA3	41849785	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	9.869000	0.99810	2.873000	0.98535	0.563000	0.77884	GCC	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000103532.3		+	ENST00000300289.5	Missense_Mutation	SNP	15 : 44062493 - 44062493 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	327	59
ZFAND4	93550	broad.mit.edu	37	10	46121762	46121762	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46121762C>T	ENST00000344646.5	-	7	1724	c.1509G>A	c.(1507-1509)caG>caA	p.Q503Q	ZFAND4_ENST00000374366.3_Silent_p.Q429Q|ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374370.1_5'UTR	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ANUB1_HUMAN	zinc finger, AN1-type domain 4	503							zinc ion binding				NA						AAGAAGAAGGCTGTAGCTTCC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	80	79			NA	NA	10		NA											NA				46121762		2203	4300	6503	SO:0001819	synonymous_variant			AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671	93550	93550		Zinc fingers, AN1-type domain containing	23504	protein-coding gene	gene with protein product			AN1, ubiquitin-like, homolog (Xenopus laevis)	ANUBL1	NA		Standard	NM_174890	XM_005271837	NA	Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.1509G>A	10.37:g.46121762C>T		NA	A8K8V4|B2RAX2|Q5VVY5	37	CCDS7214.1																																																																																			ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047790.1		-	ENST00000344646.5	Silent	SNP	10 : 46121762 - 46121762 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	456	93
DLG3	1741	broad.mit.edu	37	X	69719830	69719830	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69719830C>T	ENST00000194900.4	+	18	2513	c.2172C>T	c.(2170-2172)atC>atT	p.I724I	DLG3_ENST00000374360.3_Silent_p.I692I|DLG3_ENST00000542398.1_Silent_p.I241I|DLG3_ENST00000461646.1_3'UTR|DLG3_ENST00000374355.3_Silent_p.I387I			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	692	Guanylate kinase-like.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					ACAAGTTCATCGAGGCGGGCC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	73	81			NA	NA	X		NA											NA				69719830		2203	4300	6503	SO:0001819	synonymous_variant			U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458	1741	1741			2902	protein-coding gene	gene with protein product	neuroendocrine-dlg, protein phosphatase 1, regulatory subunit 82	300189	discs, large homolog 3 (neuroendocrine-dlg, Drosophila)		NA	9598320	Standard	NM_021120	NM_021120	NA	Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000194900.4:c.2172C>T	X.37:g.69719830C>T		NA	D3DVU5|Q5JUW7|Q9ULI8	37																																																																																				DLG3-003	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000057076.1		+	ENST00000194900.4	Silent	SNP	X : 69719830 - 69719830 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	125	38
NTM	50863	broad.mit.edu	37	11	132177654	132177654	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:132177654G>A	ENST00000374786.1	+	4	1077	c.598G>A	c.(598-600)Gag>Aag	p.E200K	NTM_ENST00000425719.2_Missense_Mutation_p.E200K|NTM_ENST00000374791.3_Missense_Mutation_p.E200K|NTM_ENST00000374784.1_Missense_Mutation_p.E200K|NTM_ENST00000539799.1_Missense_Mutation_p.E200K|NTM_ENST00000427481.2_Missense_Mutation_p.E191K|NTM_ENST00000474900.1_3'UTR	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	200	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AGGGGACTACGAGTGCAGTGC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	84	88			NA	NA	11		NA											NA				132177654		2201	4297	6498	SO:0001583	missense			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667	50863	50863		Immunoglobulin superfamily / I-set domain containing	17941	protein-coding gene	gene with protein product	neurotrimin, IgLON family member 2	607938			NA	7891157	Standard	NM_016522	NM_001048209	NA	Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.598G>A	11.37:g.132177654G>A	ENSP00000363918:p.Glu200Lys	NA	A0MTT2|Q6UXJ3|Q86VJ9	37	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	G	37	6.109459	0.97291	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.67345	1.68;1.68;-0.26;1.68;1.68;1.68;1.68	5.78	5.78	0.91487	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.042817	0.85682	D	0.000000	T	0.80793	0.4691	M	0.66378	2.025	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.987;0.999;0.993;0.999;0.987;0.995	T	0.74200	-0.3742	10	0.22109	T	0.4	-30.012	20.3754	0.98918	0.0:0.0:1.0:0.0	.	200;191;200;200;200;200	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	K	200;200;191;191;200;200;200	ENSP00000363923:E200K;ENSP00000437668:E200K;ENSP00000448104:E191K;ENSP00000416320:E191K;ENSP00000363918:E200K;ENSP00000396722:E200K;ENSP00000363916:E200K	ENSP00000363916:E200K	E	+	1	0	NTM	131682864	1.000000	0.71417	0.994000	0.49952	0.897000	0.52465	9.420000	0.97426	2.894000	0.99253	0.591000	0.81541	GAG	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000141937.1		+	ENST00000374786.1	Missense_Mutation	SNP	11 : 132177654 - 132177654 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	295	60
MTMR7	9108	broad.mit.edu	37	8	17228582	17228582	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17228582C>T	ENST00000180173.5	-	3	308	c.274G>A	c.(274-276)Gac>Aac	p.D92N	MTMR7_ENST00000521857.1_Missense_Mutation_p.D92N	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	92							protein tyrosine phosphatase activity	p.D92N(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		ATGTACACGTCGTGGCAATCT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	skin(1)											144	131	135			NA	NA	8		NA											NA				17228582		2203	4300	6503	SO:0001583	missense			AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987	9108	9108		Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins	7454	protein-coding gene	gene with protein product		603562			NA	9736772, 12890864	Standard	NM_004686	NM_004686	NA	Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.274G>A	8.37:g.17228582C>T	ENSP00000180173:p.Asp92Asn	NA	A1L4K9|B4DG87|Q68DX4	37	CCDS34851.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542767	0.45280	.	.	ENSG00000003987	ENST00000180173;ENST00000521857	D;D	0.82526	-1.62;-1.62	5.23	5.23	0.72850	.	0.092239	0.64402	N	0.000001	T	0.78997	0.4372	L	0.41961	1.31	0.80722	D	1	B	0.13145	0.007	B	0.12837	0.008	T	0.72554	-0.4258	10	0.25106	T	0.35	.	19.1829	0.93630	0.0:1.0:0.0:0.0	.	92	Q9Y216	MTMR7_HUMAN	N	92	ENSP00000180173:D92N;ENSP00000429733:D92N	ENSP00000180173:D92N	D	-	1	0	MTMR7	17272953	1.000000	0.71417	0.280000	0.24747	0.455000	0.32408	4.592000	0.61027	2.602000	0.87976	0.655000	0.94253	GAC	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375311.1		-	ENST00000180173.5	Missense_Mutation	SNP	8 : 17228582 - 17228582 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	482	31
CCDC18	343099	broad.mit.edu	37	1	93701841	93701841	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93701841G>A	ENST00000343253.7	+	19	2996	c.2494G>A	c.(2494-2496)Gaa>Aaa	p.E832K	CCDC18_ENST00000401026.3_Missense_Mutation_p.E833K|CCDC18_ENST00000338949.4_Missense_Mutation_p.E588K|CCDC18_ENST00000557479.1_Missense_Mutation_p.E951K|CCDC18_ENST00000334652.5_Missense_Mutation_p.E128K|CCDC18_ENST00000421014.2_Intron			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	832										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AAAACAAAGGGAAAGTTCAGC	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	83	85			NA	NA	1		NA											NA				93701841		1833	4083	5916	SO:0001583	missense					1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483	343099	343099			30370	protein-coding gene	gene with protein product					NA	12601173	Standard	NM_206886	XM_006710609	NA	Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.2494G>A	1.37:g.93701841G>A	ENSP00000343377:p.Glu832Lys	NA	Q6ZU17	37		.	.	.	.	.	.	.	.	.	.	G	23.9	4.469612	0.84533	.	.	ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000334652;ENST00000455267	T	0.69435	-0.4	4.57	4.57	0.56435	.	0.272209	0.34386	N	0.004008	T	0.58163	0.2103	N	0.22421	0.69	0.36801	D	0.885378	P;D	0.61697	0.939;0.99	P;P	0.57911	0.503;0.829	T	0.60146	-0.7320	10	0.36615	T	0.2	.	16.4239	0.83808	0.0:0.0:1.0:0.0	.	832;951	Q5T9S5;G3V388	CCD18_HUMAN;.	K	832;833;951;588;128;508	ENSP00000334084:E128K	ENSP00000334084:E128K	E	+	1	0	CCDC18	93474429	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.191000	0.72063	2.485000	0.83878	0.650000	0.86243	GAA	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000382327.1		+	ENST00000343253.7	Missense_Mutation	SNP	1 : 93701841 - 93701841 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	33
HBS1L	10767	broad.mit.edu	37	6	135287592	135287592	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135287592T>G	ENST00000367837.5	-	17	2124	c.1918A>C	c.(1918-1920)Aat>Cat	p.N640H	HBS1L_ENST00000415177.2_Missense_Mutation_p.N575H|HBS1L_ENST00000445176.2_Missense_Mutation_p.N364H|HBS1L_ENST00000367826.2_Missense_Mutation_p.N598H|HBS1L_ENST00000527578.1_Missense_Mutation_p.N476H|HBS1L_ENST00000367824.4_Missense_Mutation_p.N476H	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	640					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		ACCAATGCATTCTGGCCTTTA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	112	112			NA	NA	6		NA											NA				135287592		2203	4300	6503	SO:0001583	missense			U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339	10767	10767			4834	protein-coding gene	gene with protein product	eRF3 family member	612450	HBS1 (S. cerevisiae)-like, HBS1-like (S. cerevisiae)		NA	9872408, 23667253	Standard		NM_006620	NA	Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.1918A>C	6.37:g.135287592T>G	ENSP00000356811:p.Asn640His	NA	B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	37	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.476985	0.84640	.	.	ENSG00000112339	ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000445176	T;T;T;T;T;T;T	0.65178	-0.14;-0.12;-0.11;-0.13;-0.12;-0.13;0.9	5.96	5.96	0.96718	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73410	0.3583	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.76615	-0.2894	10	0.66056	D	0.02	-32.104	16.4277	0.83824	0.0:0.0:0.0:1.0	.	598;640	Q9Y450-4;Q9Y450	.;HBS1L_HUMAN	H	640;476;575;598;476;510;364	ENSP00000356811:N640H;ENSP00000436256:N476H;ENSP00000389826:N575H;ENSP00000356800:N598H;ENSP00000356798:N476H;ENSP00000434533:N510H;ENSP00000415305:N364H	ENSP00000356798:N476H	N	-	1	0	HBS1L	135329285	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.470000	0.80973	2.279000	0.76181	0.533000	0.62120	AAT	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042339.2		-	ENST00000367837.5	Missense_Mutation	SNP	6 : 135287592 - 135287592 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	562	97
KIAA0907	22889	broad.mit.edu	37	1	155885736	155885736	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155885736C>A	ENST00000368320.3	-	13	1598	c.1573G>T	c.(1573-1575)Gcc>Tcc	p.A525S	KIAA0907_ENST00000368321.3_Missense_Mutation_p.A525S			Q7Z7F0	K0907_HUMAN	KIAA0907	525										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			ACTGGAAAGGCTGGTGGAGGC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													212	210	211			NA	NA	1		NA											NA				155885736		2203	4300	6503	SO:0001583	missense			BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680	22889	22889			29145	protein-coding gene	gene with protein product					NA	10048485	Standard	NM_014949	NM_014949	NA	Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368320.3:c.1573G>T	1.37:g.155885736C>A	ENSP00000357303:p.Ala525Ser	NA	O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	37		.	.	.	.	.	.	.	.	.	.	C	15.17	2.752806	0.49362	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	T	0.31769	1.48	6.02	5.09	0.68999	.	0.263978	0.41097	N	0.000951	T	0.08403	0.0209	N	0.12182	0.205	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.10450	0.005;0.003	T	0.10894	-1.0610	10	0.23302	T	0.38	-5.3086	14.5869	0.68331	0.2659:0.7341:0.0:0.0	.	525;525	Q7Z7F0-2;Q7Z7F0	.;K0907_HUMAN	S	525	ENSP00000357304:A525S	ENSP00000357303:A525S	A	-	1	0	KIAA0907	154152360	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.766000	0.38491	1.517000	0.48917	0.650000	0.86243	GCC	KIAA0907-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000039585.1		-	ENST00000368320.3	Missense_Mutation	SNP	1 : 155885736 - 155885736 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1455	364
NOC3L	64318	broad.mit.edu	37	10	96117060	96117060	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96117060G>A	ENST00000371361.3	-	4	479	c.379C>T	c.(379-381)Cat>Tat	p.H127Y	NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000371350.1_Missense_Mutation_p.H127Y	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	127						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				ATGCGTTCATGCTTCCGTTTC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	89	91			NA	NA	10		NA											NA				96117060		2203	4300	6503	SO:0001583	missense			AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145	64318	64318			24034	protein-coding gene	gene with protein product		610769	chromosome 10 open reading frame 117	C10orf117	NA	15564382	Standard	NM_022451	NM_022451	NA	Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.379C>T	10.37:g.96117060G>A	ENSP00000360412:p.His127Tyr	NA	Q9H5M6|Q9H9D8	37	CCDS7433.1	.	.	.	.	.	.	.	.	.	.	G	0.178	-1.064960	0.01934	.	.	ENSG00000173145	ENST00000371361;ENST00000371350	T;T	0.11821	2.74;2.74	5.16	0.841	0.18918	.	0.807371	0.12019	N	0.507107	T	0.06826	0.0174	N	0.08118	0	0.21627	N	0.999615	B	0.19935	0.04	B	0.34779	0.189	T	0.48937	-0.8990	10	0.07813	T	0.8	-9.2634	6.2289	0.20724	0.1392:0.0:0.5021:0.3587	.	127	Q8WTT2	NOC3L_HUMAN	Y	127	ENSP00000360412:H127Y;ENSP00000360401:H127Y	ENSP00000360401:H127Y	H	-	1	0	NOC3L	96107050	0.975000	0.34042	0.895000	0.35142	0.422000	0.31414	1.859000	0.39418	0.260000	0.21731	0.655000	0.94253	CAT	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049466.1		-	ENST00000371361.3	Missense_Mutation	SNP	10 : 96117060 - 96117060 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	60
PEAK1	79834	broad.mit.edu	37	15	77425586	77425586	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77425586G>A	ENST00000560626.2	-	6	4313	c.3838C>T	c.(3838-3840)Ctt>Ttt	p.L1280F	PEAK1_ENST00000312493.4_Missense_Mutation_p.L1280F			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1280					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				NA						CGATTCTCAAGTCCTCGATAA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	136	138			NA	NA	15		NA											NA				77425586		1877	4102	5979	SO:0001583	missense				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517	79834	79834			29431	protein-coding gene	gene with protein product		614248			NA	16879967, 20534451	Standard		NM_024776	NA	Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.3838C>T	15.37:g.77425586G>A	ENSP00000452796:p.Leu1280Phe	NA	Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	37	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629020	0.67015	.	.	ENSG00000173517	ENST00000312493	T	0.30182	1.54	5.61	3.54	0.40534	.	0.223449	0.39475	N	0.001350	T	0.30355	0.0762	N	0.19112	0.55	0.33896	D	0.637907	D	0.59767	0.986	P	0.54060	0.741	T	0.42816	-0.9429	10	0.72032	D	0.01	-10.6377	12.4949	0.55923	0.0:0.0:0.7218:0.2782	.	1280	Q9H792	PEAK1_HUMAN	F	1280	ENSP00000309230:L1280F	ENSP00000309230:L1280F	L	-	1	0	AC087465.1	75212641	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.061000	0.49963	2.642000	0.89623	0.655000	0.94253	CTT	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419483.3		-	ENST00000560626.2	Missense_Mutation	SNP	15 : 77425586 - 77425586 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	949	153
MUC5B	727897	broad.mit.edu	37	11	1267146	1267146	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1267146G>A	ENST00000529681.1	+	31	9094	c.9036G>A	c.(9034-9036)ccG>ccA	p.P3012P	MUC5B_ENST00000447027.1_Silent_p.P3015P|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3012	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGGCCATCCCGTCCTCCACCC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	168	158			NA	NA	11		NA											NA				1267146		2150	4233	6383	SO:0001819	synonymous_variant			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983	727897	727897		Mucins	7516	protein-coding gene	gene with protein product		600770	mucin 5, subtype B, tracheobronchial	MUC5	NA	9804771	Standard	XM_001126093	NM_002458	NA	Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9036G>A	11.37:g.1267146G>A		NA	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	37	CCDS44515.2																																																																																			MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390041.2		+	ENST00000529681.1	Silent	SNP	11 : 1267146 - 1267146 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1010	192
PHACTR2	9749	broad.mit.edu	37	6	144086912	144086912	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144086912T>C	ENST00000427704.2	+	6	1306	c.1176T>C	c.(1174-1176)agT>agC	p.S392S	PHACTR2_ENST00000367582.3_Silent_p.S323S|PHACTR2_ENST00000440869.2_Silent_p.S403S|PHACTR2_ENST00000305766.6_Silent_p.S312S|PHACTR2_ENST00000367584.4_Silent_p.S380S	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	392							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CTGGCTTAAGTGTTAACAGAG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)							NA				0													73	69	70			NA	NA	6		NA											NA				144086912		1881	4105	5986	SO:0001819	synonymous_variant			AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419	9749	9749		Phosphatase and actin regulators	20956	protein-coding gene	gene with protein product		608724	chromosome 6 open reading frame 56	C6orf56	NA	9734811, 15107502	Standard	NM_014721	NM_001100164	NA	Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.1176T>C	6.37:g.144086912T>C		NA	A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	37	CCDS47492.1																																																																																			PHACTR2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042528.2		+	ENST00000427704.2	Silent	SNP	6 : 144086912 - 144086912 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	530	97
SMEK2	57223	broad.mit.edu	37	2	55825881	55825881	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55825881T>C	ENST00000272313.5	-	4	919	c.592A>G	c.(592-594)Att>Gtt	p.I198V	SMEK2_ENST00000345102.5_Missense_Mutation_p.I198V|SMEK2_ENST00000407823.3_Missense_Mutation_p.I198V	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	198						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ATTCCTCTAATAATTTCATAC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	69	67			NA	NA	2		NA											NA				55825881		2203	4300	6503	SO:0001583	missense			AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041		57223	57223			29267	protein-coding gene	gene with protein product		610352			NA	16085932, 18614045	Standard	NM_020463	NM_001122964	NA	Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000272313.5:c.592A>G	2.37:g.55825881T>C	ENSP00000272313:p.Ile198Val	NA	Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	37	CCDS1855.1	.	.	.	.	.	.	.	.	.	.	T	11.28	1.591840	0.28357	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.40225	1.04;1.04;1.04	5.74	4.56	0.56223	Domain of unknown function DUF625 (1);Armadillo-type fold (1);	0.148187	0.64402	D	0.000010	T	0.24470	0.0593	N	0.16307	0.4	0.44789	D	0.997791	B;B;B;B	0.13594	0.0;0.004;0.001;0.008	B;B;B;B	0.20384	0.001;0.029;0.003;0.013	T	0.05835	-1.0861	10	0.06494	T	0.89	-7.5148	12.0855	0.53695	0.129:0.0:0.0:0.871	.	198;198;198;198	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3;B4DKA9	.;P4R3B_HUMAN;.;.	V	198	ENSP00000272313:I198V;ENSP00000385912:I198V;ENSP00000339769:I198V	ENSP00000272313:I198V	I	-	1	0	SMEK2	55679385	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.134000	0.57990	0.953000	0.37825	0.533000	0.62120	ATT	SMEK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251482.1		-	ENST00000272313.5	Missense_Mutation	SNP	2 : 55825881 - 55825881 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	345	103
TBRG4	9238	broad.mit.edu	37	7	45145255	45145255	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45145255A>G	ENST00000258770.3	-	3	641	c.520T>C	c.(520-522)Tgg>Cgg	p.W174R	TBRG4_ENST00000494076.1_Missense_Mutation_p.W174R|TBRG4_ENST00000395655.4_Missense_Mutation_p.W174R|TBRG4_ENST00000361278.3_Missense_Mutation_p.W174R	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	174					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						CGCATGCGCCAGCGGACCTCC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	71	72			NA	NA	7		NA											NA				45145255		2203	4300	6503	SO:0001583	missense			AB023165	CCDS5501.1, CCDS5502.1	7p13	2006-07-07			ENSG00000136270	ENSG00000136270	9238	9238			17443	protein-coding gene	gene with protein product	FAST kinase domains 4, cell cycle progression 2 protein	611325			NA	9383053	Standard	NM_030900	NM_004749	NA	Approved	Cpr2, KIAA0948, H_TD2522F11.8, FASTKD4	uc011kcd.3	Q969Z0	OTTHUMG00000129247	ENST00000258770.3:c.520T>C	7.37:g.45145255A>G	ENSP00000258770:p.Trp174Arg	NA	A4D2L2|A4D2L3|D3DVL5|D3DVL6|O14710|Q53GI8|Q8NDM4|Q9BUC6|Q9Y2F6	37	CCDS5501.1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.796521	0.70567	.	.	ENSG00000136270	ENST00000258770;ENST00000361278;ENST00000395655;ENST00000494076;ENST00000478532;ENST00000461363	T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.60521	0.2275	M	0.76328	2.33	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.996;0.999;0.934	T	0.59010	-0.7534	10	0.10636	T	0.68	.	13.4467	0.61144	1.0:0.0:0.0:0.0	.	185;174;174	B4DU42;Q969Z0-2;Q969Z0	.;.;TBRG4_HUMAN	R	174;174;174;174;139;120	ENSP00000258770:W174R;ENSP00000354992:W174R;ENSP00000379016:W174R;ENSP00000420597:W174R;ENSP00000418631:W139R;ENSP00000417743:W120R	ENSP00000258770:W174R	W	-	1	0	TBRG4	45111780	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.126000	0.89592	2.195000	0.70347	0.533000	0.62120	TGG	TBRG4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251351.1		-	ENST00000258770.3	Missense_Mutation	SNP	7 : 45145255 - 45145255 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	464	86
HERC2	8924	broad.mit.edu	37	15	28358303	28358303	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28358303G>A	ENST00000261609.7	-	92	14254	c.14146C>T	c.(14146-14148)Cgc>Tgc	p.R4716C		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4716	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAAAGAGAGCGCTCTGTGTTG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	64	66			NA	NA	15		NA											NA				28358303		2203	4300	6503	SO:0001583	missense			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731	8924	8924			4868	protein-coding gene	gene with protein product		605837	hect domain and RLD 2		NA	9949213	Standard	NM_004667	NM_004667	NA	Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.14146C>T	15.37:g.28358303G>A	ENSP00000261609:p.Arg4716Cys	NA	Q86SV7|Q86SV8|Q86SV9|Q86YY3|Q86YY4|Q86YY5|Q86YY6|Q86YY7|Q86YY8|Q86YY9|Q86YZ0|Q86YZ1	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574110	0.86542	.	.	ENSG00000128731	ENST00000261609	T	0.54071	0.59	5.0	5.0	0.66597	HECT (4);	0.000000	0.85682	D	0.000000	T	0.80259	0.4590	M	0.93638	3.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.964;0.987	D	0.86189	0.1611	10	0.87932	D	0	.	18.3069	0.90185	0.0:0.0:1.0:0.0	.	4716;405	O95714;Q8ND39	HERC2_HUMAN;.	C	4716	ENSP00000261609:R4716C	ENSP00000261609:R4716C	R	-	1	0	HERC2	26031898	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	4.274000	0.58921	2.331000	0.79229	0.561000	0.74099	CGC	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251358.2		-	ENST00000261609.7	Missense_Mutation	SNP	15 : 28358303 - 28358303 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	374	79
A1CF	29974	broad.mit.edu	37	10	52595854	52595854	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:52595854G>A	ENST00000374001.2	-	5	723	c.584C>T	c.(583-585)gCg>gTg	p.A195V	A1CF_ENST00000373993.1_Missense_Mutation_p.A195V|A1CF_ENST00000373995.3_Missense_Mutation_p.A203V|A1CF_ENST00000282641.2_Missense_Mutation_p.A195V|A1CF_ENST00000395495.1_Missense_Mutation_p.A195V|A1CF_ENST00000395489.2_Missense_Mutation_p.A188V|A1CF_ENST00000373997.3_Missense_Mutation_p.A195V			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	NA	RRM 2.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.A203V(2)|p.A195V(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTTCCTCCTCGCCATGGCAGC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				4	Substitution - Missense(4)	lung(2)|breast(2)											106	96	100			NA	NA	10		NA											NA				52595854		2203	4300	6503	SO:0001583	missense			AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584	29974	29974		RNA binding motif (RRM) containing	24086	protein-coding gene	gene with protein product					NA	11815617, 11072063	Standard	NM_014576	NM_014576	NA	Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000374001.2:c.584C>T	10.37:g.52595854G>A	ENSP00000363113:p.Ala195Val	NA	A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	37	CCDS7241.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550854	0.86127	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489;ENST00000414883	T;T;T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28	6.04	5.1	0.69264	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.046025	0.85682	D	0.000000	T	0.64616	0.2614	M	0.88450	2.955	0.80722	D	1	D;D;D;D	0.76494	0.999;0.997;0.993;0.998	D;P;P;P	0.64042	0.921;0.893;0.73;0.888	T	0.71255	-0.4647	10	0.87932	D	0	-9.2963	16.5645	0.84575	0.0:0.1418:0.8582:0.0	.	188;195;195;203	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	V	195;195;195;203;195;195;178;188;195	ENSP00000363113:A195V;ENSP00000363105:A195V;ENSP00000363109:A195V;ENSP00000363107:A203V;ENSP00000282641:A195V;ENSP00000378873:A195V;ENSP00000378868:A188V;ENSP00000397953:A195V	ENSP00000282641:A195V	A	-	2	0	A1CF	52265860	1.000000	0.71417	0.999000	0.59377	0.619000	0.37552	7.811000	0.86092	2.873000	0.98535	0.563000	0.77884	GCG	A1CF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048085.3		-	ENST00000374001.2	Missense_Mutation	SNP	10 : 52595854 - 52595854 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	507	42
COMP	1311	broad.mit.edu	37	19	18901372	18901372	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18901372G>A	ENST00000542601.2	-	2	506	c.117C>T	c.(115-117)tgC>tgT	p.C39C	COMP_ENST00000425807.1_Splice_Site_p.C72C|COMP_ENST00000222271.2_Splice_Site_p.C72C			P49747	COMP_HUMAN	cartilage oligomeric matrix protein	72	COMP N-terminal.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CGCGCTCACCGCACGCGTCAC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													196	209	204			NA	NA	19		NA											NA				18901372		2203	4300	6503	SO:0001630	splice_region_variant			L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664	1311	1311			2227	protein-coding gene	gene with protein product	thrombospondin-5	600310	cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)	PSACH, EDM1, EPD1	NA	7713493, 8307576	Standard	NM_000095	NM_000095	NA	Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000542601.2:c.118+1C>T	19.37:g.18901372G>A		NA	O14592|Q16388|Q16389|Q2NL86|Q8N4T2	37																																																																																				COMP-007	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000403456.1	Silent	-	ENST00000542601.2	Splice_Site	SNP	19 : 18901372 - 18901372 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2319	372
PHTF1	10745	broad.mit.edu	37	1	114255905	114255905	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114255905C>T	ENST00000369604.1	-	8	1262	c.779G>A	c.(778-780)cGt>cAt	p.R260H	PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369600.1_Missense_Mutation_p.R207H|PHTF1_ENST00000369598.1_Missense_Mutation_p.R215H|PHTF1_ENST00000357783.2_Missense_Mutation_p.R260H|PHTF1_ENST00000369596.2_Missense_Mutation_p.R207H|PHTF1_ENST00000447664.2_Intron|PHTF1_ENST00000393357.2_Missense_Mutation_p.R260H			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	260						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTTACCCTACGGCACTTTTC	0.358		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	146	146	146		779	-0.9	0	1		146	1,8599	1.2+/-3.3	0,1,4299	no	missense	PHTF1	NM_006608.2	29	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign	260/763	114255905	1,13005	2203	4300	6503	SO:0001583	missense			AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793	10745	10745			8939	protein-coding gene	gene with protein product		604950		PHTF	NA	10395808	Standard	NM_006608	NM_006608	NA	Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.779G>A	1.37:g.114255905C>T	ENSP00000358617:p.Arg260His	NA	Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	37	CCDS861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.401|9.401	1.077906|1.077906	0.20227|0.20227	0.0|0.0	1.16E-4|1.16E-4	ENSG00000116793|ENSG00000116793	ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604;ENST00000357783|ENST00000412670	.|.	.|.	.|.	5.55|5.55	-0.91|-0.91	0.10511|0.10511	.|.	0.913966|.	0.09577|.	N|.	0.783441|.	T|T	0.04363|0.04363	0.0120|0.0120	N|N	0.04508|0.04508	-0.205|-0.205	0.19575|0.19575	N|N	0.999967|0.999967	B;B;B;B|.	0.10296|.	0.001;0.0;0.003;0.0|.	B;B;B;B|.	0.04013|.	0.001;0.0;0.001;0.001|.	T|T	0.41963|0.41963	-0.9479|-0.9479	9|5	0.27082|.	T|.	0.32|.	-0.2427|-0.2427	6.2443|6.2443	0.20807|0.20807	0.0:0.2247:0.1549:0.6204|0.0:0.2247:0.1549:0.6204	.|.	215;260;15;260|.	F5H7M5;Q9UMS5;Q5TCR1;Q9UMS5-2|.	.;PHTF1_HUMAN;.;.|.	H|I	215;260;207;215;207;260;260|16	.|.	ENSP00000350428:R260H|.	R|V	-|-	2|1	0|0	PHTF1|PHTF1	114057428|114057428	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.939000|0.939000	0.58152|0.58152	-0.664000|-0.664000	0.05292|0.05292	-0.036000|-0.036000	0.13669|0.13669	0.467000|0.467000	0.42956|0.42956	CGT|GTA	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032666.1		-	ENST00000369604.1	Missense_Mutation	SNP	1 : 114255905 - 114255905 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	566	63
GLB1	2720	broad.mit.edu	37	3	33099761	33099761	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33099761C>A	ENST00000399402.3	-	6	594	c.463G>T	c.(463-465)Gtt>Ttt	p.V155F	GLB1_ENST00000445488.2_Splice_Site_p.V233F|GLB1_ENST00000307363.5_Splice_Site_p.V185F|GLB1_ENST00000307377.8_Intron	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	185			L -> R (in GM1G2 and GM1G3; 6.7% of wild- type enzyme activity).		carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TCATTTTCAACCTGTGAGTGA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	29	28			NA	NA	3		NA											NA				33099761		1851	4099	5950	SO:0001630	splice_region_variant			M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	2720	2720	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	elastin receptor 1, 67kDa, elastin receptor 1 (67kD)	ELNR1	NA	110522, 3143362	Standard	NM_000404	NM_000404	NA	Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.463-1G>T	3.37:g.33099761C>A		NA	B2R7H8|B7Z6B0|P16279	37	CCDS43062.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775302	0.90108	.	.	ENSG00000170266	ENST00000399402;ENST00000307363;ENST00000445488;ENST00000415454;ENST00000440656	D;D;D;D;D	0.98666	-5.06;-5.06;-5.06;-5.06;-5.06	5.57	5.57	0.84162	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 35, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99456	0.9807	H	0.95611	3.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.98516	1.0621	10	0.87932	D	0	-22.4263	19.5175	0.95170	0.0:1.0:0.0:0.0	.	185;185;233	Q53G40;P16278;B7Z6Q5	.;BGAL_HUMAN;.	F	155;185;233;26;54	ENSP00000382333:V155F;ENSP00000306920:V185F;ENSP00000393377:V233F;ENSP00000411813:V26F;ENSP00000411769:V54F	ENSP00000306920:V185F	V	-	1	0	GLB1	33074765	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	5.574000	0.67424	2.780000	0.95670	0.655000	0.94253	GTT	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341570.2	Missense_Mutation	-	ENST00000399402.3	Splice_Site	SNP	3 : 33099761 - 33099761 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	174	35
ZDHHC2	51201	broad.mit.edu	37	8	17055101	17055101	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17055101C>A	ENST00000262096.8	+	5	1079	c.384C>A	c.(382-384)taC>taA	p.Y128*		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	128						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		CCATCCGATACTGTGACAGAT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	143	144			NA	NA	8		NA											NA				17055101		1913	4141	6054	SO:0001587	stop_gained			AB023584	CCDS47810.1	8p22	2008-05-15			ENSG00000104219	ENSG00000104219	51201	51201		Zinc fingers, DHHC-type	18469	protein-coding gene	gene with protein product					NA	10918388	Standard	NM_016353	NM_016353	NA	Approved	ZNF372	uc003wxe.3	Q9UIJ5	OTTHUMG00000163860	ENST00000262096.8:c.384C>A	8.37:g.17055101C>A	ENSP00000262096:p.Tyr128*	NA	D3DSP5	37	CCDS47810.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.685509	0.68157	.	.	ENSG00000104219	ENST00000262096;ENST00000522184	.	.	.	4.3	-3.91	0.04168	.	0.278379	0.35677	N	0.003059	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7717	0.69684	0.0:0.7656:0.0:0.2344	.	.	.	.	X	128;83	.	ENSP00000262096:Y128X	Y	+	3	2	ZDHHC2	17099472	0.978000	0.34361	0.966000	0.40874	0.907000	0.53573	0.176000	0.16782	-0.577000	0.05967	-0.691000	0.03719	TAC	ZDHHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376014.2		+	ENST00000262096.8	Nonsense_Mutation	SNP	8 : 17055101 - 17055101 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	728	137
CHFR	55743	broad.mit.edu	37	12	133428227	133428227	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133428227T>C	ENST00000443047.2	-	10	1297	c.1229A>G	c.(1228-1230)gAc>gGc	p.D410G	CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000537522.1_Missense_Mutation_p.D124G|CHFR_ENST00000432561.2_Missense_Mutation_p.D502G|CHFR_ENST00000266880.7_Missense_Mutation_p.D501G|CHFR_ENST00000315585.7_Missense_Mutation_p.D461G|CHFR_ENST00000450056.2_Missense_Mutation_p.D490G	NM_001161347.1	NP_001154819.1	Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	502					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		GACACGCGGGTCCTGCTCGCG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	87	85			NA	NA	12		NA											NA				133428227		2203	4300	6503	SO:0001583	missense			AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609	NA	55743		RING-type (C3HC4) zinc fingers	20455	protein-coding gene	gene with protein product		605209	checkpoint with forkhead and ring finger domains		NA	10935642, 11807090	Standard		NM_001161344	NA	Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000443047.2:c.1229A>G	12.37:g.133428227T>C	ENSP00000416431:p.Asp410Gly	NA	A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	37	CCDS53847.1	.	.	.	.	.	.	.	.	.	.	T	7.948	0.744314	0.15710	.	.	ENSG00000072609	ENST00000315585;ENST00000443047;ENST00000450056;ENST00000266880;ENST00000537522;ENST00000541228;ENST00000432561	T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42	5.93	3.6	0.41247	.	0.444283	0.27035	N	0.021257	T	0.23926	0.0579	L	0.40543	1.245	0.32812	D	0.501575	P;B;B;B;B	0.35575	0.51;0.071;0.042;0.071;0.029	B;B;B;B;B	0.36567	0.228;0.167;0.08;0.167;0.096	T	0.25433	-1.0132	10	0.20519	T	0.43	-17.3777	10.1814	0.42970	0.0:0.1336:0.0:0.8664	.	410;501;502;490;461	Q96EP1-5;Q96EP1-4;Q96EP1;Q96EP1-2;Q96EP1-3	.;.;CHFR_HUMAN;.;.	G	461;410;490;501;124;302;502	ENSP00000320557:D461G;ENSP00000416431:D410G;ENSP00000398735:D490G;ENSP00000266880:D501G;ENSP00000442327:D124G;ENSP00000392395:D502G	ENSP00000266880:D501G	D	-	2	0	CHFR	131938300	1.000000	0.71417	0.994000	0.49952	0.041000	0.13682	2.505000	0.45424	0.513000	0.28278	-0.250000	0.11733	GAC	CHFR-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397240.2		-	ENST00000443047.2	Missense_Mutation	SNP	12 : 133428227 - 133428227 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1141	55
ZIC1	7545	broad.mit.edu	37	3	147131305	147131305	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147131305G>A	ENST00000282928.4	+	3	2040	c.1311G>A	c.(1309-1311)gcG>gcA	p.A437A		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	437	Ser-rich.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCCACAGTGCGCTCTCTTCCA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	89	92			NA	NA	3		NA											NA				147131305		2203	4300	6503	SO:0001819	synonymous_variant			D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977	7545	7545		Zinc fingers, C2H2-type	12872	protein-coding gene	gene with protein product		600470	Zic family member 1 (odd-paired Drosophila homolog), Zic family member 1 (odd-paired homolog, Drosophila)		NA	8542595	Standard	NM_003412	NM_003412	NA	Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.1311G>A	3.37:g.147131305G>A		NA	Q2M3N1	37	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	8.581	0.882233	0.17467	.	.	ENSG00000152977	ENST00000488404	.	.	.	3.28	1.38	0.22167	.	.	.	.	.	T	0.54334	0.1852	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41342	-0.9514	4	.	.	.	.	7.1105	0.25388	0.0951:0.0:0.7362:0.1687	.	.	.	.	H	126	.	.	R	+	2	0	ZIC1	148613995	1.000000	0.71417	0.999000	0.59377	0.900000	0.52787	3.249000	0.51437	-0.041000	0.13558	-0.448000	0.05591	CGC	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355497.1		+	ENST00000282928.4	Silent	SNP	3 : 147131305 - 147131305 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	567	106
HSD17B2	3294	broad.mit.edu	37	16	82131894	82131894	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:82131894G>A	ENST00000199936.4	+	5	1210	c.1017G>A	c.(1015-1017)acG>acA	p.T339T	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	339					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	CCTATTACACGCCAGGGAAAG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4402		0,0,2201	163	142	149		1017	-11.1	0	16		149	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HSD17B2	NM_002153.2		0,1,6500	AA,AG,GG	NA	0.0116,0.0,0.0077		339/388	82131894	1,13001	2201	4300	6501	SO:0001819	synonymous_variant				CCDS10936.1	16q24.1-q24.2	2011-09-14			ENSG00000086696	ENSG00000086696	3294	3294	1.1.1.62	Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2	5211	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 9C, member 2	109685			NA	7759109, 19027726	Standard	NM_002153	NM_002153	NA	Approved	HSD17, SDR9C2	uc002fgv.3	P37059	OTTHUMG00000137631	ENST00000199936.4:c.1017G>A	16.37:g.82131894G>A		NA	B2R7T4	37	CCDS10936.1																																																																																			HSD17B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269057.2		+	ENST00000199936.4	Silent	SNP	16 : 82131894 - 82131894 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	637	110
DZIP3	9666	broad.mit.edu	37	3	108381086	108381086	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108381086G>A	ENST00000361582.3	+	21	2635	c.2405G>A	c.(2404-2406)gGa>gAa	p.G802E	DZIP3_ENST00000463306.1_Missense_Mutation_p.G802E	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	802					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.G802E(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GTTGCTTTTGGAATCAATAAG	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											50	51	50			NA	NA	3		NA											NA				108381086		2202	4300	6502	SO:0001583	missense			AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919	9666	9666		RING-type (C3HC4) zinc fingers, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	30938	protein-coding gene	gene with protein product	human RNA-binding ubiquitin ligase of 138 kDa, protein phosphatase 1, regulatory subunit 66	608672	DAZ interacting protein 3, zinc finger		NA	9734811, 12538761	Standard	NM_014648	NM_014648	NA	Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2405G>A	3.37:g.108381086G>A	ENSP00000355028:p.Gly802Glu	NA	B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	37	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659901	0.67586	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	D;D	0.83419	-1.72;-1.72	5.09	5.09	0.68999	.	0.000000	0.51477	D	0.000085	D	0.86760	0.6010	L	0.47716	1.5	0.40099	D	0.976346	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.991	D	0.83365	0.0004	10	0.20519	T	0.43	-18.2322	13.8682	0.63600	0.0:0.0:1.0:0.0	.	420;802	D3DN61;Q86Y13	.;DZIP3_HUMAN	E	802	ENSP00000355028:G802E;ENSP00000419981:G802E	ENSP00000355028:G802E	G	+	2	0	DZIP3	109863776	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.235000	0.58666	2.644000	0.89710	0.563000	0.77884	GGA	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353968.1		+	ENST00000361582.3	Missense_Mutation	SNP	3 : 108381086 - 108381086 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	137	16
TTLL3	26140	broad.mit.edu	37	3	9874919	9874919	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9874919C>T	ENST00000455274.1	+	4	2268				TTLL3_ENST00000426895.4_Silent_p.G705G|TTLL3_ENST00000547186.1_Silent_p.G562G|ARPC4-TTLL3_ENST00000397256.1_Intron|TTLL3_ENST00000383827.1_Intron|TTLL3_ENST00000427853.3_Intron|TTLL3_ENST00000397241.1_Intron|TTLL3_ENST00000430793.1_Silent_p.G350G			Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	NA					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					CCCAGCGAGGCTCTGGGGAAG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	29	28			NA	NA	3		NA											NA				9874919		1912	4111	6023	SO:0001627	intron_variant				CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021	26140	26140		Tubulin tyrosine ligase-like family	24483	protein-coding gene	gene with protein product					NA	11054573	Standard	NM_001025930.2	NR_037162	NA	Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000455274.1:c.918+3840C>T	3.37:g.9874919C>T		NA	Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	37																																																																																				TTLL3-016	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000308977.2		+	ENST00000455274.1	Intron	SNP	3 : 9874919 - 9874919 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	184	49
FAT2	2196	broad.mit.edu	37	5	150930355	150930355	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150930355G>T	ENST00000261800.5	-	7	4386	c.4374C>A	c.(4372-4374)ccC>ccA	p.P1458P		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1458	Cadherin 13.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGTGTCCTGGGGAACTCTGA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	85	87			NA	NA	5		NA											NA				150930355		2203	4300	6503	SO:0001819	synonymous_variant			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570	2196	2196		Cadherins / Cadherin-related	3596	protein-coding gene	gene with protein product	cadherin-related family member 9	604269	FAT tumor suppressor (Drosophila) homolog 2, FAT tumor suppressor homolog 2 (Drosophila)		NA	9693030	Standard	NM_001447	NM_001447	NA	Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.4374C>A	5.37:g.150930355G>T		NA	O75091|Q9NSR7	37	CCDS4317.1																																																																																			FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252434.1		-	ENST00000261800.5	Silent	SNP	5 : 150930355 - 150930355 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	223	38
SUV420H2	84787	broad.mit.edu	37	19	55857588	55857588	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55857588C>A	ENST00000255613.3	+	7	826	c.578C>A	c.(577-579)cCt>cAt	p.P193H		NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	193	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CAGTTTGTGCCTGCAGATGGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	95	101			NA	NA	19		NA											NA				55857588		2203	4300	6503	SO:0001583	missense			BC005842	CCDS12922.1	19q13.42	2011-07-01			ENSG00000133247	ENSG00000133247	84787	84787		Chromatin-modifying enzymes / K-methyltransferases	28405	protein-coding gene	gene with protein product		613198			NA	12477932	Standard	NM_032701	NM_032701	NA	Approved	MGC2705, KMT5C	uc002qkj.4	Q86Y97	OTTHUMG00000150483	ENST00000255613.3:c.578C>A	19.37:g.55857588C>A	ENSP00000255613:p.Pro193His	NA	Q8WZ10|Q9BRZ6	37	CCDS12922.1	.	.	.	.	.	.	.	.	.	.	c	18.40	3.615474	0.66672	.	.	ENSG00000133247	ENST00000255613	D	0.86694	-2.16	3.93	3.93	0.45458	SET domain (3);	0.000000	0.64402	D	0.000016	D	0.91526	0.7324	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.91151	0.4953	10	0.41790	T	0.15	-17.7373	15.2907	0.73865	0.0:1.0:0.0:0.0	.	193	Q86Y97	SV422_HUMAN	H	193	ENSP00000255613:P193H	ENSP00000255613:P193H	P	+	2	0	SUV420H2	60549400	0.935000	0.31712	0.902000	0.35471	0.572000	0.35998	7.140000	0.77322	2.186000	0.69663	0.655000	0.94253	CCT	SUV420H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318309.2		+	ENST00000255613.3	Missense_Mutation	SNP	19 : 55857588 - 55857588 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	474	83
FAM179A	165186	broad.mit.edu	37	2	29259479	29259479	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29259479G>A	ENST00000379558.4	+	18	2842	c.2491G>A	c.(2491-2493)Gcc>Acc	p.A831T	FAM179A_ENST00000403861.2_Missense_Mutation_p.A776T|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	831							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGAGTCCTTCGCCAAGATGAT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	105	111			NA	NA	2		NA											NA				29259479		2203	4300	6503	SO:0001583	missense			AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350	165186	165186			33715	protein-coding gene	gene with protein product					NA	16344560	Standard	NM_199280	NM_199280	NA	Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.2491G>A	2.37:g.29259479G>A	ENSP00000368876:p.Ala831Thr	NA	Q6ZUF5	37	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	g	6.373	0.436969	0.12104	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.14144	2.53;2.53	6.04	1.22	0.21188	Armadillo-like helical (1);Armadillo-type fold (1);	0.266535	0.32802	N	0.005625	T	0.08044	0.0201	L	0.50333	1.59	0.09310	N	1	B;B;P	0.36249	0.179;0.034;0.545	B;B;B	0.22386	0.024;0.003;0.039	T	0.34403	-0.9830	10	0.13853	T	0.58	.	6.7617	0.23544	0.1701:0.0:0.6081:0.2218	.	776;831;129	F8W8E4;Q6ZUX3;Q6ZUX3-3	.;F179A_HUMAN;.	T	831;776	ENSP00000368876:A831T;ENSP00000384699:A776T	ENSP00000368876:A831T	A	+	1	0	FAM179A	29112983	0.000000	0.05858	0.439000	0.26833	0.203000	0.24098	0.488000	0.22371	0.461000	0.27071	-0.217000	0.12591	GCC	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317848.4		+	ENST00000379558.4	Missense_Mutation	SNP	2 : 29259479 - 29259479 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	101
ADAM17	6868	broad.mit.edu	37	2	9658104	9658104	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9658104C>T	ENST00000310823.3	-	10	1299	c.1117G>A	c.(1117-1119)Gtt>Att	p.V373I		NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	373	Peptidase M12B.				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		TTCTTCCCAACTGGGCTATAA	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	68	65			NA	NA	2		NA											NA				9658104		2196	4292	6488	SO:0001583	missense			U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694	6868	6868		ADAM metallopeptidase domain containing, CD molecules	195	protein-coding gene	gene with protein product		603639	tumor necrosis factor, alpha, converting enzyme	TACE	NA	9034190, 9574564	Standard		NM_003183	NA	Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.1117G>A	2.37:g.9658104C>T	ENSP00000309968:p.Val373Ile	NA	O60226	37	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	C	7.942	0.742956	0.15642	.	.	ENSG00000151694	ENST00000310823	D	0.86432	-2.12	6.17	-2.53	0.06326	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);	1.724310	0.02114	N	0.055067	T	0.73321	0.3572	N	0.16266	0.395	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.56757	-0.7926	10	0.27082	T	0.32	.	0.8013	0.01075	0.2124:0.162:0.3155:0.31	.	373;373	B2RNB2;P78536	.;ADA17_HUMAN	I	373	ENSP00000309968:V373I	ENSP00000309968:V373I	V	-	1	0	ADAM17	9575555	0.000000	0.05858	0.031000	0.17742	0.954000	0.61252	-1.130000	0.03241	-0.426000	0.07360	-0.137000	0.14449	GTT	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206857.1		-	ENST00000310823.3	Missense_Mutation	SNP	2 : 9658104 - 9658104 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	538	128
SMTN	6525	broad.mit.edu	37	22	31494783	31494783	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31494783C>T	ENST00000358743.1	+	17	2508	c.2290C>T	c.(2290-2292)Cgc>Tgc	p.R764C	SMTN_ENST00000333137.7_Missense_Mutation_p.R764C|SMTN_ENST00000404574.1_Missense_Mutation_p.R287C|SMTN_ENST00000347557.2_Missense_Mutation_p.R764C	NM_134270.2	NP_599032.2	P53814	SMTN_HUMAN	smoothelin	764					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						CTCCCAGGCGCGCAAGGCCAT	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	18	17			NA	NA	22		NA											NA				31494783		2198	4289	6487	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.2290C>T	22.37:g.31494783C>T	ENSP00000351593:p.Arg764Cys	NA	O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	37	CCDS13887.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626507	0.87560	.	.	ENSG00000183963	ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000455608;ENST00000404574;ENST00000403419	T;T;T;T;D	0.94376	-0.51;-0.9;-0.9;1.41;-3.41	5.34	5.34	0.76211	.	0.000000	0.38272	N	0.001743	D	0.95306	0.8477	L	0.41492	1.28	0.80722	D	1	P;D;D;D;P;P;P;D	0.89917	0.936;0.971;1.0;1.0;0.828;0.876;0.828;0.962	P;P;D;D;B;P;B;P	0.83275	0.579;0.558;0.996;0.996;0.254;0.579;0.254;0.631	D	0.95709	0.8756	10	0.87932	D	0	-12.395	19.4284	0.94754	0.0:1.0:0.0:0.0	.	820;849;144;287;787;764;764;764	E7ETT8;B4E229;B5MBZ4;B5MCI0;B5MC56;E7EWD0;P53814;P53814-5	.;.;.;.;.;.;SMTN_HUMAN;.	C	764;764;764;762;787;165;287;144	ENSP00000351593:R764C;ENSP00000328635:R764C;ENSP00000329532:R764C;ENSP00000392329:R165C;ENSP00000383919:R287C	ENSP00000329393:R762C	R	+	1	0	SMTN	29824783	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.438000	0.59961	2.686000	0.91538	0.561000	0.74099	CGC	SMTN-003	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321768.1		+	ENST00000358743.1	Missense_Mutation	SNP	22 : 31494783 - 31494783 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	198	25
INF2	64423	broad.mit.edu	37	14	105181089	105181089	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105181089C>T	ENST00000392634.4	+	21	3702	c.3590C>T	c.(3589-3591)gCg>gTg	p.A1197V	INF2_ENST00000330634.7_Missense_Mutation_p.A1197V	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1197					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TCCGAGGATGCGGTGACCGAC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	VAL/ALA,VAL/ALA	0,4032		0,0,2016	14	18	17		3590,3590	3.5	0	14		17	1,8261		0,1,4130	no	missense,missense	INF2	NM_022489.3,NM_001031714.3	64,64	0,1,6146	TT,TC,CC	NA	0.0121,0.0,0.0081	benign,benign	1197/1250,1197/1241	105181089	1,12293	2016	4131	6147	SO:0001583	missense			AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485	64423	64423			23791	protein-coding gene	gene with protein product	inverted formin 2	610982	chromosome 14 open reading frame 151, chromosome 14 open reading frame 173	C14orf151, C14orf173	NA	16818491	Standard	NM_022489	NM_001031714	NA	Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.3590C>T	14.37:g.105181089C>T	ENSP00000376410:p.Ala1197Val	NA	Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	37	CCDS9989.2	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631763	0.29068	0.0	1.21E-4	ENSG00000203485	ENST00000330634;ENST00000392634	T;D	0.81499	-1.49;-1.5	4.44	3.55	0.40652	.	0.371075	0.19509	N	0.112548	T	0.63558	0.2521	N	0.17082	0.46	0.25501	N	0.987559	B;B	0.31318	0.319;0.213	B;B	0.17433	0.018;0.008	T	0.56426	-0.7981	10	0.52906	T	0.07	.	10.3378	0.43860	0.0:0.9063:0.0:0.0937	.	1197;1197	Q27J81-2;Q27J81	.;INF2_HUMAN	V	1197	ENSP00000376406:A1197V;ENSP00000376410:A1197V	ENSP00000252527:A665V	A	+	2	0	INF2	104252134	0.000000	0.05858	0.019000	0.16419	0.218000	0.24690	0.976000	0.29462	0.871000	0.35750	0.491000	0.48974	GCG	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000074371.4		+	ENST00000392634.4	Missense_Mutation	SNP	14 : 105181089 - 105181089 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	129	24
HFM1	164045	broad.mit.edu	37	1	91781522	91781522	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91781522C>A	ENST00000370425.3	-	28	3088	c.2990G>T	c.(2989-2991)aGa>aTa	p.R997I	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.R229I|HFM1_ENST00000370424.3_Missense_Mutation_p.R676I	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	997	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		ATCACTATATCTTGTAATCTT	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	39	39			NA	NA	1		NA											NA				91781522		2199	4297	6496	SO:0001583	missense			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669	164045	164045			20193	protein-coding gene	gene with protein product		615684	SEC63 domain containing 1	SEC63D1	NA	14702039, 17286053	Standard	NM_001017975	XM_006710395	NA	Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2990G>T	1.37:g.91781522C>A	ENSP00000359454:p.Arg997Ile	NA	B1B0B6|Q8N9Q0	37	CCDS30769.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.848|8.848	0.943933|0.943933	0.18281|0.18281	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000430465|ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421	.|T;T;T	.|0.57273	.|0.41;0.41;0.41	5.25|5.25	3.37|3.37	0.38596|0.38596	.|Sec63 domain (2);	.|0.267631	.|0.35096	.|N	.|0.003455	T|T	0.50205|0.50205	0.1602|0.1602	L|L	0.56769|0.56769	1.78|1.78	0.53688|0.53688	D|D	0.999972|0.999972	.|P;D;D	.|0.63880	.|0.943;0.99;0.993	.|B;D;P	.|0.64595	.|0.445;0.927;0.854	T|T	0.56177|0.56177	-0.8022|-0.8022	5|10	.|0.66056	.|D	.|0.02	.|.	5.2022|5.2022	0.15271|0.15271	0.0:0.5967:0.0:0.4033|0.0:0.5967:0.0:0.4033	.|.	.|676;208;997	.|A6NGI5;B1B0B5;A2PYH4	.|.;.;HFM1_HUMAN	Y|I	209|997;229;676;681	.|ENSP00000359454:R997I;ENSP00000294696:R229I;ENSP00000359453:R676I	.|ENSP00000294696:R229I	D|R	-|-	1|2	0|0	HFM1|HFM1	91554110|91554110	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.054000|0.054000	0.15201|0.15201	2.689000|2.689000	0.46993|0.46993	1.226000|1.226000	0.43582|0.43582	-0.384000|-0.384000	0.06662|0.06662	GAT|AGA	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316716.2		-	ENST00000370425.3	Missense_Mutation	SNP	1 : 91781522 - 91781522 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	80	15
PRKD1	5587	broad.mit.edu	37	14	30107919	30107919	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:30107919C>T	ENST00000331968.5	-	5	1117	c.888G>A	c.(886-888)agG>agA	p.R296R	PRKD1_ENST00000551644.1_5'UTR|PRKD1_ENST00000415220.2_Silent_p.R304R	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	296					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GCAAGCCCTGCCTGAAAAGCC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	54	56			NA	NA	14		NA											NA				30107919		2203	4300	6503	SO:0001819	synonymous_variant				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	5587	5587	2.7.11.1	Pleckstrin homology (PH) domain containing	9407	protein-coding gene	gene with protein product		605435	protein kinase C, mu	PRKCM	NA	8119958, 10965134	Standard	NM_002742	NM_002742	NA	Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.888G>A	14.37:g.30107919C>T		NA	A6NL64|B2RAF6	37	CCDS9637.1																																																																																			PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276611.2		-	ENST00000331968.5	Silent	SNP	14 : 30107919 - 30107919 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	193	8
MYO16	23026	broad.mit.edu	37	13	109817315	109817315	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:109817315C>T	ENST00000357550.2	+	32	5206	c.5165C>T	c.(5164-5166)aCt>aTt	p.T1722I	MYO16_ENST00000356711.2_Missense_Mutation_p.T1722I|MYO16-AS1_ENST00000439299.1_RNA	NM_001198950.1	NP_001185879.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1722					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ACTTCCGAGACTCAAGACAGA	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	56	57			NA	NA	13		NA											NA				109817315		2203	4299	6502	SO:0001583	missense				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515	23026	23026		Myosins / Myosin superfamily : Class XVI, Ankyrin repeat domain containing	29822	protein-coding gene	gene with protein product	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3, protein phosphatase 1, regulatory subunit 107	615479			NA	11588169, 17029291, 21946561	Standard	NM_015011	NM_001198950	NA	Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.5165C>T	13.37:g.109817315C>T	ENSP00000350160:p.Thr1722Ile	NA	A6H8Y0|A8MTX3|Q5VYX4|Q5VYX5|Q5VYX6|Q6ZS13|Q8N3C2|Q8N948	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745984	0.49151	.	.	ENSG00000041515	ENST00000356711;ENST00000357550	T;T	0.80566	-1.39;-1.39	5.49	4.64	0.57946	.	0.000000	0.41823	U	0.000818	T	0.74921	0.3780	L	0.60455	1.87	0.80722	D	1	B	0.28713	0.22	B	0.28139	0.086	T	0.70831	-0.4765	9	.	.	.	.	10.7029	0.45937	0.0:0.9123:0.0:0.0877	.	1722	Q9Y6X6	MYO16_HUMAN	I	1722	ENSP00000349145:T1722I;ENSP00000350160:T1722I	.	T	+	2	0	MYO16	108615316	1.000000	0.71417	0.997000	0.53966	0.945000	0.59286	1.983000	0.40648	2.579000	0.87056	0.557000	0.71058	ACT	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045746.1		+	ENST00000357550.2	Missense_Mutation	SNP	13 : 109817315 - 109817315 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	150	27
STON1	11037	broad.mit.edu	37	2	48808368	48808368	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48808368A>G	ENST00000406226.1	+	3	791	c.596A>G	c.(595-597)gAc>gGc	p.D199G	STON1_ENST00000309835.3_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.D199G|STON1_ENST00000404752.1_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.D199G	NM_001198595.1	NP_001185524.1			stonin 1	NA										NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTCACCCTTGACCCACCAGGA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	79	80			NA	NA	2		NA											NA				48808368		2203	4300	6503	SO:0001583	missense			AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244	11037	11037			17003	protein-coding gene	gene with protein product	stoned B homolog 1 (Drosophila)	605357			NA	14504226, 10364255	Standard	NM_006873	NM_001198595	NA	Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.596A>G	2.37:g.48808368A>G	ENSP00000384615:p.Asp199Gly	NA		37	CCDS1841.1	.	.	.	.	.	.	.	.	.	.	A	6.936	0.542363	0.13250	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.11277	2.8;2.8;2.8;2.8;2.79;2.8;2.8;2.96	4.42	4.42	0.53409	.	0.526218	0.20876	N	0.084092	T	0.18509	0.0444	L	0.53249	1.67	0.09310	N	1	D;P;D	0.76494	0.999;0.651;0.999	D;B;D	0.72338	0.977;0.115;0.913	T	0.36768	-0.9734	10	0.19147	T	0.46	.	1.4856	0.02446	0.5238:0.1531:0.0883:0.2347	.	199;199;199	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	G	199	ENSP00000385273:D199G;ENSP00000384615:D199G;ENSP00000310969:D199G;ENSP00000385499:D199G;ENSP00000385701:D199G;ENSP00000378236:D199G;ENSP00000311493:D199G;ENSP00000378234:D199G	ENSP00000310969:D199G	D	+	2	0	STON1-GTF2A1L;STON1	48661872	0.159000	0.22864	0.386000	0.26170	0.293000	0.27360	0.993000	0.29680	2.209000	0.71365	0.533000	0.62120	GAC	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323848.2		+	ENST00000406226.1	Missense_Mutation	SNP	2 : 48808368 - 48808368 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	476	123
CIT	11113	broad.mit.edu	37	12	120139738	120139738	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120139738C>T	ENST00000392521.2	-	42	5385	c.5330G>A	c.(5329-5331)aGc>aAc	p.S1777N	CIT_ENST00000261833.7_Missense_Mutation_p.S1735N|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1735	CNH.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GTGGATACAGCTGCAGGGCTC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	138	140			NA	NA	12		NA											NA				120139738		2203	4300	6503	SO:0001583	missense			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966	11113	11113			1985	protein-coding gene	gene with protein product	serine/threonine kinase 21	605629	citron (rho-interacting, serine/threonine kinase 21)		NA	9792683	Standard	NM_007174	NM_001206999	NA	Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000392521.2:c.5330G>A	12.37:g.120139738C>T	ENSP00000376306:p.Ser1777Asn	NA	Q6XUH8|Q86UQ9|Q9UPZ7	37	CCDS55891.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.4|25.4	4.632957|4.632957	0.87660|0.87660	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|T;T	.|0.05258	.|3.47;3.47	5.68|5.68	5.68|5.68	0.88126|0.88126	.|Citron-like (3);	.|0.047784	.|0.85682	.|D	.|0.000000	T|T	0.20861|0.20861	0.0502|0.0502	L|L	0.45581|0.45581	1.43|1.43	0.80722|0.80722	D|D	1|1	.|D;D;P	.|0.76494	.|0.999;0.991;0.708	.|D;D;B	.|0.83275	.|0.996;0.988;0.425	T|T	0.00250|0.00250	-1.1878|-1.1878	5|10	.|0.34782	.|T	.|0.22	.|.	19.7849|19.7849	0.96432|0.96432	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1777;1735;1253	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	T|N	1348|1777;1735	.|ENSP00000376306:S1777N;ENSP00000261833:S1735N	.|ENSP00000261833:S1735N	A|S	-|-	1|2	0|0	CIT|CIT	118624121|118624121	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.818000|7.818000	0.86416|0.86416	2.671000|2.671000	0.90904|0.90904	0.650000|0.650000	0.86243|0.86243	GCT|AGC	CIT-005	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401847.1		-	ENST00000392521.2	Missense_Mutation	SNP	12 : 120139738 - 120139738 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	598	134
STRN4	29888	broad.mit.edu	37	19	47228870	47228870	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47228870C>T	ENST00000391910.3	-	10	1755	c.1305G>A	c.(1303-1305)tgG>tgA	p.W435*	STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000539396.1_Nonsense_Mutation_p.W309*|STRN4_ENST00000263280.6_Nonsense_Mutation_p.W428*			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	428						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		ACTTGGGGTTCCACGTCTTCT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	108	109			NA	NA	19		NA											NA				47228870		2203	4300	6503	SO:0001587	stop_gained			AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372	29888	29888		WD repeat domain containing	15721	protein-coding gene	gene with protein product		614767			NA	10748158	Standard		XM_006723171	NA	Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000391910.3:c.1305G>A	19.37:g.47228870C>T	ENSP00000375777:p.Trp435*	NA	Q8NE53	37	CCDS42581.1	.	.	.	.	.	.	.	.	.	.	C	35	5.435333	0.96150	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.0279	16.8978	0.86105	0.0:1.0:0.0:0.0	.	.	.	.	X	435;428;309	.	ENSP00000263280:W428X	W	-	3	0	STRN4	51920710	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	7.537000	0.82033	2.290000	0.77057	0.561000	0.74099	TGG	STRN4-002	KNOWN	NMD_exception|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466606.2		-	ENST00000391910.3	Nonsense_Mutation	SNP	19 : 47228870 - 47228870 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	35
PRKCDBP	112464	broad.mit.edu	37	11	6340679	6340679	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6340679T>C	ENST00000530979.1	-	3	651	c.596A>G	c.(595-597)gAc>gGc	p.D199G	PRKCDBP_ENST00000303927.3_Missense_Mutation_p.D167G			Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	167										large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGGCTCCTCGTCCGAGCTCTC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								T	GLY/ASP	0,4400		0,0,2200	18	22	20		500	5.1	0.6	11		20	1,8583		0,1,4291	no	missense	PRKCDBP	NM_145040.2	94	0,1,6491	CC,CT,TT	NA	0.0116,0.0,0.0077	possibly-damaging	167/262	6340679	1,12983	2200	4292	6492	SO:0001583	missense			AF339881	CCDS7762.1	11p15.4	2011-04-20			ENSG00000170955	ENSG00000170955	112464	112464			9400	protein-coding gene	gene with protein product	sdr-related gene product that binds to c-kinase				NA	9054438	Standard	NM_145040	NM_145040	NA	Approved	SRBC, HSRBC, MGC20400, cavin-3, CAVIN3	uc001mcu.1	Q969G5	OTTHUMG00000133378	ENST00000530979.1:c.596A>G	11.37:g.6340679T>C	ENSP00000432047:p.Asp199Gly	NA		37		.	.	.	.	.	.	.	.	.	.	T	22.6	4.311230	0.81358	0.0	1.16E-4	ENSG00000170955	ENST00000303927;ENST00000530979	T;T	0.62498	0.02;0.02	5.08	5.08	0.68730	.	0.056346	0.64402	D	0.000002	T	0.64159	0.2573	L	0.47716	1.5	0.29727	N	0.838205	P	0.43094	0.799	P	0.49829	0.623	T	0.66712	-0.5854	10	0.87932	D	0	-24.4683	11.2449	0.48991	0.0:0.0:0.0:1.0	.	167	Q969G5	PRDBP_HUMAN	G	167;199	ENSP00000307292:D167G;ENSP00000432047:D199G	ENSP00000307292:D167G	D	-	2	0	PRKCDBP	6297255	0.944000	0.32072	0.601000	0.28877	0.976000	0.68499	2.835000	0.48175	1.920000	0.55613	0.459000	0.35465	GAC	PRKCDBP-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000384204.1		-	ENST00000530979.1	Missense_Mutation	SNP	11 : 6340679 - 6340679 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	302	36
ANKRD11	29123	broad.mit.edu	37	16	89350530	89350530	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89350530A>C	ENST00000301030.4	-	9	2880	c.2420T>G	c.(2419-2421)gTt>gGt	p.V807G	ANKRD11_ENST00000378330.2_Missense_Mutation_p.V807G	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	807	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCCCTATAAACCTTTTCTTT	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	40	39			NA	NA	16		NA											NA				89350530		2198	4300	6498	SO:0001583	missense			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522	29123	29123		Ankyrin repeat domain containing	21316	protein-coding gene	gene with protein product		611192			NA	11483580	Standard	NM_013275	NM_001256182	NA	Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.2420T>G	16.37:g.89350530A>C	ENSP00000301030:p.Val807Gly	NA	Q6NTG1|Q6QMF8	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	A	0.971	-0.700084	0.03279	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000330736	T;T	0.38560	1.13;1.13	5.66	-0.892	0.10570	.	0.755412	0.12064	N	0.502858	T	0.22589	0.0545	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.25882	-1.0119	10	0.15952	T	0.53	.	6.1812	0.20472	0.3566:0.366:0.2774:0.0	.	426;807	Q7Z5E5;Q6UB99	.;ANR11_HUMAN	G	807;807;426	ENSP00000301030:V807G;ENSP00000367581:V807G	ENSP00000301030:V807G	V	-	2	0	ANKRD11	87878031	0.000000	0.05858	0.000000	0.03702	0.528000	0.34623	0.721000	0.25911	-0.456000	0.07043	-0.441000	0.05720	GTT	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000430462.3		-	ENST00000301030.4	Missense_Mutation	SNP	16 : 89350530 - 89350530 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	209	10
GPR4	2828	broad.mit.edu	37	19	46095003	46095003	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46095003G>A	ENST00000323040.4	-	2	1066	c.122C>T	c.(121-123)gCg>gTg	p.A41V	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	41						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GCGGTAGGCCGCCCACAGAGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(117;181 1612 1673 14956 42937)							NA				0													64	52	56			NA	NA	19		NA											NA				46095003		2203	4300	6503	SO:0001583	missense			BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464	2828	2828		GPCR / Class A : Orphans	4497	protein-coding gene	gene with protein product		600551			NA	8595909	Standard	NM_005282	NM_005282	NA	Approved		uc002pcm.3	P46093		ENST00000323040.4:c.122C>T	19.37:g.46095003G>A	ENSP00000319744:p.Ala41Val	NA	A8K3T3|B0M0K1|Q6NWM4	37	CCDS12669.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877137	0.33162	.	.	ENSG00000177464	ENST00000323040	T	0.33216	1.42	5.11	5.11	0.69529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000009	T	0.24353	0.0590	N	0.03999	-0.3	0.42852	D	0.994087	D	0.71674	0.998	P	0.58520	0.84	T	0.05022	-1.0911	10	0.02654	T	1	.	16.0194	0.80472	0.0:0.0:1.0:0.0	.	41	P46093	GPR4_HUMAN	V	41	ENSP00000319744:A41V	ENSP00000319744:A41V	A	-	2	0	GPR4	50786843	0.994000	0.37717	0.993000	0.49108	0.985000	0.73830	2.116000	0.41930	2.365000	0.80145	0.313000	0.20887	GCG	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459603.1		-	ENST00000323040.4	Missense_Mutation	SNP	19 : 46095003 - 46095003 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	482	86
NQO2	4835	broad.mit.edu	37	6	3010414	3010414	+	Missense_Mutation	SNP	G	G	T	rs55771117		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:3010414G>T	ENST00000338130.2	+	6	875	c.163G>T	c.(163-165)Gat>Tat	p.D55Y	NQO2_ENST00000380441.1_Missense_Mutation_p.D55Y|NQO2_ENST00000380455.4_Missense_Mutation_p.D55Y|NQO2_ENST00000380454.4_Missense_Mutation_p.D55Y|NQO2_ENST00000606474.1_3'UTR|NQO2_ENST00000380430.1_Missense_Mutation_p.D55Y			P16083	NQO2_HUMAN	NAD(P)H dehydrogenase, quinone 2	55						cytoplasm|nucleus	coenzyme binding|dihydronicotinamide riboside quinone reductase activity|electron carrier activity|metal ion binding|NADPH dehydrogenase (quinone) activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Menadione(DB00170)|NADH(DB00157)	CACAGACAAAGATATCACTGG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	62	64			NA	NA	6		NA											NA				3010414		2203	4300	6503	SO:0001583	missense			U07736	CCDS4481.1, CCDS75388.1	6p25.2	2012-09-20	2001-11-30	2001-12-07	ENSG00000124588	ENSG00000124588	4835	4835	1.6.5.2		7856	protein-coding gene	gene with protein product		160998	NAD(P)H menadione oxidoreductase 2, dioxin-inducible	NMOR2	NA	1691923	Standard		XM_005249152	NA	Approved	QR2, DHQV, DIA6	uc003mus.2	P16083	OTTHUMG00000014130	ENST00000338130.2:c.163G>T	6.37:g.3010414G>T	ENSP00000337773:p.Asp55Tyr	NA	B2R492|Q5TD04	37	CCDS4481.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.851555	0.51270	.	.	ENSG00000124588	ENST00000426637;ENST00000380472;ENST00000538898;ENST00000397717;ENST00000338130;ENST00000380441;ENST00000380455;ENST00000380454;ENST00000380430	T;T;T;T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72;2.72;2.72;2.72	5.63	5.63	0.86233	Flavodoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	H	0.95079	3.62	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.61103	-0.7130	10	0.87932	D	0	-29.6135	16.8378	0.85961	0.0:0.0:1.0:0.0	rs55771117	55;102	P16083;Q59EN2	NQO2_HUMAN;.	Y	55;55;102;55;55;55;55;55;55	ENSP00000406951:D55Y;ENSP00000369839:D55Y;ENSP00000380829:D55Y;ENSP00000337773:D55Y;ENSP00000369806:D55Y;ENSP00000369822:D55Y;ENSP00000369821:D55Y;ENSP00000369795:D55Y	ENSP00000337773:D55Y	D	+	1	0	NQO2	2955413	1.000000	0.71417	0.414000	0.26521	0.078000	0.17371	8.075000	0.89502	2.650000	0.89964	0.563000	0.77884	GAT	NQO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039651.1		+	ENST00000338130.2	Missense_Mutation	SNP	6 : 3010414 - 3010414 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	170	32
NTRK3	4916	broad.mit.edu	37	15	88669595	88669595	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:88669595C>A	ENST00000542733.2	-	11	1168	c.1009G>T	c.(1009-1011)Gca>Tca	p.A337S	NTRK3_ENST00000558676.1_Missense_Mutation_p.A427S|NTRK3_ENST00000317501.3_Missense_Mutation_p.A435S|NTRK3_ENST00000557856.1_Missense_Mutation_p.A427S|NTRK3_ENST00000357724.2_Missense_Mutation_p.A427S|NTRK3_ENST00000355254.2_Missense_Mutation_p.A435S|NTRK3_ENST00000360948.2_Missense_Mutation_p.A435S|NTRK3_ENST00000540489.2_Missense_Mutation_p.A435S|NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000394480.2_Missense_Mutation_p.A435S			Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	435	Ig-like C2-type 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGTCCAACTGCTATGGATACC	0.438		NA	T	ETV6	congenital fibrosarcoma, Secretory breast 					TSP Lung(13;0.10)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		15	15q25	4916	neurotrophic tyrosine kinase, receptor, type 3		E, M	0													105	91	96			NA	NA	15		NA											NA				88669595		2201	4299	6500	SO:0001583	missense			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	4916	4916	2.7.10.1	Immunoglobulin superfamily / I-set domain containing	8033	protein-coding gene	gene with protein product		191316			NA	7806211	Standard		NM_001012338	NA	Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000542733.2:c.1009G>T	15.37:g.88669595C>A	ENSP00000437773:p.Ala337Ser	NA	O75682|Q12827|Q16289	37		.	.	.	.	.	.	.	.	.	.	C	18.73	3.687306	0.68157	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.74526	-0.84;-0.79;-0.85;-0.84;-0.73;-0.1;-0.1	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.85991	0.5826	M	0.71206	2.165	0.80722	D	1	D;D;P;D;D;P	0.89917	1.0;0.997;0.947;1.0;0.999;0.947	D;D;P;D;D;P	0.81914	0.994;0.985;0.677;0.994;0.995;0.677	D	0.86621	0.1879	10	0.66056	D	0.02	.	18.6978	0.91607	0.0:1.0:0.0:0.0	.	337;427;427;435;435;435	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	S	435;435;427;435;337;435;435	ENSP00000377990:A435S;ENSP00000354207:A435S;ENSP00000350356:A427S;ENSP00000347397:A435S;ENSP00000437773:A337S;ENSP00000444673:A435S;ENSP00000318328:A435S	ENSP00000318328:A435S	A	-	1	0	NTRK3	86470599	1.000000	0.71417	0.932000	0.37286	0.122000	0.20287	7.543000	0.82106	2.652000	0.90054	0.655000	0.94253	GCA	NTRK3-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000415277.1		-	ENST00000542733.2	Missense_Mutation	SNP	15 : 88669595 - 88669595 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	202	18
EFNB1	1947	broad.mit.edu	37	X	68060137	68060137	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:68060137C>T	ENST00000204961.4	+	5	1461	c.681C>T	c.(679-681)agC>agT	p.S227S		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	227					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						GGGGCAGCAGCGGGGACCCTG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	54	53			NA	NA	X		NA											NA				68060137		2203	4300	6503	SO:0001819	synonymous_variant			U09303	CCDS14391.1	Xq12	2011-03-09			ENSG00000090776	ENSG00000090776	1947	1947		Ephrins	3226	protein-coding gene	gene with protein product		300035	craniofrontonasal syndrome (craniofrontonasal dysplasia)	EPLG2, CFNS	NA	7774950, 16526919	Standard	NM_004429	NM_004429	NA	Approved	LERK2, Elk-L	uc004dxd.4	P98172	OTTHUMG00000021751	ENST00000204961.4:c.681C>T	X.37:g.68060137C>T		NA	D3DVU0	37	CCDS14391.1																																																																																			EFNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057029.1		+	ENST00000204961.4	Silent	SNP	X : 68060137 - 68060137 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	169	44
JOSD2	126119	broad.mit.edu	37	19	51010878	51010878	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51010878G>A	ENST00000598418.1	-	3	478	c.225C>T	c.(223-225)gcC>gcT	p.A75A	JOSD2_ENST00000601423.1_Silent_p.A75A|JOSD2_ENST00000595669.1_Intron|JOSD2_ENST00000391815.3_Silent_p.A75A	NM_001270639.1|NM_001270640.1	NP_001257568.1|NP_001257569.1	Q8TAC2	JOS2_HUMAN	Josephin domain containing 2	75	Josephin.				protein deubiquitination		ubiquitin-specific protease activity			kidney(1)|lung(3)|prostate(1)	5		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)		CCTGCAGAGCGGCCATGATCA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	89	87			NA	NA	19		NA											NA				51010878		2203	4300	6503	SO:0001819	synonymous_variant			AF247787	CCDS12797.1, CCDS59413.1	19q13.33	2008-02-05				ENSG00000161677	126119	126119			28853	protein-coding gene	gene with protein product		615324			NA		Standard	NM_138334	NM_138334	NA	Approved	SBBI54	uc031rmi.1	Q8TAC2		ENST00000598418.1:c.225C>T	19.37:g.51010878G>A		NA		37	CCDS12797.1																																																																																			JOSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464902.1		-	ENST00000598418.1	Silent	SNP	19 : 51010878 - 51010878 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	929	154
LAMA5	3911	broad.mit.edu	37	20	60893902	60893902	+	Silent	SNP	T	T	G	rs111438443		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60893902T>G	ENST00000252999.3	-	52	7105	c.7039A>C	c.(7039-7041)Aga>Cga	p.R2347R		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2347	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACTCACATCTCTGTGCTGCA	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	19	19			NA	NA	20		NA											NA				60893902		2165	4270	6435	SO:0001819	synonymous_variant			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702	3911	3911		Laminins	6485	protein-coding gene	gene with protein product		601033			NA	9271224	Standard	NM_005560	NM_005560	NA	Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.7039A>C	20.37:g.60893902T>G		NA	Q8TDF8|Q8WZA7|Q9H1P1	37	CCDS33502.1																																																																																			LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080014.2		-	ENST00000252999.3	Silent	SNP	20 : 60893902 - 60893902 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	133	20
WIPI1	55062	broad.mit.edu	37	17	66425048	66425048	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66425048G>A	ENST00000262139.5	-	10	994	c.995C>T	c.(994-996)gCg>gTg	p.A332V	WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Missense_Mutation_p.A250V	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	332					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						ACTGGATGACGCAACTAGCAG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	75	81			NA	NA	17		NA											NA				66425048		2203	4300	6503	SO:0001583	missense				CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540	55062	55062		WD repeat domain containing	25471	protein-coding gene	gene with protein product		609224			NA	15020712, 15602573	Standard	NM_017983	NM_017983	NA	Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.995C>T	17.37:g.66425048G>A	ENSP00000262139:p.Ala332Val	NA	Q8IXM5|Q9NWF8	37	CCDS11677.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690742	0.48097	.	.	ENSG00000070540	ENST00000262139;ENST00000546360	T;T	0.54279	0.58;2.17	5.33	2.85	0.33270	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.217883	0.48286	D	0.000186	T	0.36880	0.0983	L	0.31157	0.91	0.23180	N	0.998168	B	0.26147	0.143	B	0.27608	0.081	T	0.16928	-1.0386	10	0.12430	T	0.62	-10.6268	11.958	0.52993	0.1781:0.0:0.8219:0.0	.	332	Q5MNZ9	WIPI1_HUMAN	V	332;250	ENSP00000262139:A332V;ENSP00000437345:A250V	ENSP00000262139:A332V	A	-	2	0	WIPI1	63936643	1.000000	0.71417	0.008000	0.14137	0.037000	0.13140	5.917000	0.69989	1.139000	0.42245	0.557000	0.71058	GCG	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448739.1		-	ENST00000262139.5	Missense_Mutation	SNP	17 : 66425048 - 66425048 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	207	25
CDC20B	166979	broad.mit.edu	37	5	54416252	54416252	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54416252C>T	ENST00000296733.1	-	10	1516		c.e10+1		CDC20B_ENST00000334206.5_Splice_Site|CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000381375.2_Splice_Site	NM_001170402.1|NM_152623.2	NP_001163873.1|NP_689836.2	Q86Y33	CD20B_HUMAN	cell division cycle 20B	NA										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			GAGATATTAACCTGTGAGTTT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	159	162			NA	NA	5		NA											NA				54416252		2203	4300	6503	SO:0001630	splice_region_variant			AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287	166979	166979		WD repeat domain containing	24222	protein-coding gene	gene with protein product			CDC20 cell division cycle 20 homolog B (S. cerevisiae), cell division cycle 20 homolog B (S. cerevisiae)		NA		Standard	NM_152623	NM_152623	NA	Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000296733.1:c.1341+1G>A	5.37:g.54416252C>T		NA	B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	37	CCDS3966.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232330	0.79688	.	.	ENSG00000164287	ENST00000296733;ENST00000381375	.	.	.	4.61	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.586	0.87981	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDC20B	54452009	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.747000	0.68689	2.556000	0.86216	0.655000	0.94253	.	CDC20B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253908.2	Intron	-	ENST00000296733.1	Splice_Site	SNP	5 : 54416252 - 54416252 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	598	107
ADCY8	114	broad.mit.edu	37	8	131859759	131859759	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:131859759G>A	ENST00000286355.5	-	11	4505	c.2413C>T	c.(2413-2415)Ctg>Ttg	p.L805L	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	805					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCACACCACAGCTGCGGATTa	0.388		NA								HNSCC(32;0.087)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	47	47			NA	NA	8		NA											NA				131859759		2203	4300	6503	SO:0001630	splice_region_variant			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	114	114	4.6.1.1	Adenylate cyclases	239	protein-coding gene	gene with protein product		103070		ADCY3	NA	8076676	Standard		NM_001115	NA	Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2413-1C>T	8.37:g.131859759G>A		NA		37	CCDS6363.1																																																																																			ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380080.1	Silent	-	ENST00000286355.5	Splice_Site	SNP	8 : 131859759 - 131859759 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	64	15
FAT1	2195	broad.mit.edu	37	4	187539140	187539140	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187539140C>T	ENST00000441802.2	-	10	8809	c.8600G>A	c.(8599-8601)gGc>gAc	p.G2867D		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2867	Cadherin 26.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGTAATCCAGCCTGTTTCCAT	0.418		NA								HNSCC(5;0.00058)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(197;1040 2055 4143 4984 49344)							NA				0													161	143	149			NA	NA	4		NA											NA				187539140		1938	4159	6097	SO:0001583	missense			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857	2195	2195		Cadherins / Cadherin-related	3595	protein-coding gene	gene with protein product	cadherin-related family member 8	600976	FAT tumor suppressor (Drosophila) homolog, FAT tumor suppressor homolog 1 (Drosophila)	FAT	NA	8586420	Standard	NM_005245	XM_005262834	NA	Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.8600G>A	4.37:g.187539140C>T	ENSP00000406229:p.Gly2867Asp	NA		37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181797	0.78677	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.57273	0.41	4.86	4.86	0.63082	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.81437	0.4822	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87138	0.2201	10	0.87932	D	0	.	18.5503	0.91062	0.0:1.0:0.0:0.0	.	2867	Q14517	FAT1_HUMAN	D	2867;2869	ENSP00000406229:G2867D	ENSP00000260147:G2869D	G	-	2	0	FAT1	187776134	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.651000	0.83577	2.682000	0.91365	0.650000	0.86243	GGC	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360209.3		-	ENST00000441802.2	Missense_Mutation	SNP	4 : 187539140 - 187539140 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	291	58
MED29	55588	broad.mit.edu	37	19	39884197	39884197	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39884197A>G	ENST00000315588.5	+	3	392	c.343A>G	c.(343-345)Agc>Ggc	p.S115G	MED29_ENST00000599213.2_Missense_Mutation_p.S94G|MED29_ENST00000594368.1_Missense_Mutation_p.S94G	NM_017592.1	NP_060062.1	Q9NX70	MED29_HUMAN	mediator complex subunit 29	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CTGTAGAAAGAGCAGTGATGG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													180	179	179			NA	NA	19		NA											NA				39884197		2203	4300	6503	SO:0001583	missense			AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322	55588	55588			23074	protein-coding gene	gene with protein product		612914	intersex-like (Drosophila)	IXL	NA	15555573	Standard	XM_290829	NM_017592	NA	Approved	DKFZp434H247	uc010xux.3	Q9NX70		ENST00000315588.5:c.343A>G	19.37:g.39884197A>G	ENSP00000314343:p.Ser115Gly	NA	Q5XX09|Q9NTF4	37	CCDS33021.1	.	.	.	.	.	.	.	.	.	.	a	9.103	1.004571	0.19199	.	.	ENSG00000063322	ENST00000315588;ENST00000435462	.	.	.	4.39	4.39	0.52855	.	0.099330	0.64402	D	0.000002	T	0.31979	0.0814	L	0.31065	0.9	0.28778	N	0.899981	P;B	0.36909	0.573;0.006	B;B	0.39706	0.307;0.005	T	0.15983	-1.0418	9	0.21540	T	0.41	-4.0518	11.6009	0.51001	1.0:0.0:0.0:0.0	.	94;115	Q9NX70;B4DUA7	MED29_HUMAN;.	G	115;33	.	ENSP00000314343:S115G	S	+	1	0	MED29	44576037	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	5.703000	0.68340	1.833000	0.53350	0.456000	0.33151	AGC	MED29-001	KNOWN	downstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464486.1		+	ENST00000315588.5	Missense_Mutation	SNP	19 : 39884197 - 39884197 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	881	136
SLC4A10	57282	broad.mit.edu	37	2	162834231	162834231	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162834231G>A	ENST00000415876.2	+	25	3435		c.e25-1		SLC4A10_ENST00000375514.5_Splice_Site|SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000272716.5_Intron|SLC4A10_ENST00000446997.1_Splice_Site	NM_022058.3	NP_071341.2	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	NA					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTTGTCATAAGCTCCCCTTCC	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	69	70			NA	NA	2		NA											NA				162834231		1803	4061	5864	SO:0001630	splice_region_variant				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290	57282	57282		Solute carriers	13811	protein-coding gene	gene with protein product		605556	solute carrier family 4, sodium bicarbonate transporter-like, member 10		NA	10964153, 18319254	Standard	NM_022058	NM_022058	NA	Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000415876.2:c.3255-1G>A	2.37:g.162834231G>A		NA	B7ZLC5|B9EG69|Q4ZFX6|Q8TCP2|Q9HCQ6	37	CCDS46438.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.343284	0.82022	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000446997;ENST00000415711	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.415	0.94690	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC4A10	162542477	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.432000	0.66514	2.600000	0.87896	0.650000	0.86243	.	SLC4A10-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333087.2	Intron	+	ENST00000415876.2	Splice_Site	SNP	2 : 162834231 - 162834231 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	523	75
MGA	23269	broad.mit.edu	37	15	42035217	42035217	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42035217A>G	ENST00000570161.1	+	14	5059	c.5059A>G	c.(5059-5061)Act>Gct	p.T1687A	MGA_ENST00000545763.1_Intron|MGA_ENST00000566586.1_Intron|MGA_ENST00000219905.7_Missense_Mutation_p.T1687A|MGA_ENST00000389936.4_Missense_Mutation_p.T1687A			Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1687	Thr-rich.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TTCAACCATAACTCTTCCTGT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	148	151			NA	NA	15		NA											NA				42035217		2020	4193	6213	SO:0001583	missense			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197	23269	23269		MAX dimerization proteins, T-boxes	14010	protein-coding gene	gene with protein product			MAX gene associated		NA		Standard	NM_001164273.1	NM_001080541	NA	Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.5059A>G	15.37:g.42035217A>G	ENSP00000457035:p.Thr1687Ala	NA	Q9H8R3|Q9H9N7|Q9UG69|Q9Y4E9	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.022615	0.54683	.	.	ENSG00000174197	ENST00000219905;ENST00000389936	D;D	0.86769	-2.16;-2.17	4.9	4.9	0.64082	.	0.245644	0.28284	N	0.015907	D	0.85588	0.5731	N	0.19112	0.55	0.80722	D	1	D;D	0.67145	0.996;0.989	P;P	0.58266	0.836;0.694	D	0.87228	0.2258	10	0.87932	D	0	.	11.381	0.49757	0.8487:0.1513:0.0:0.0	.	303;1687	B4DVS1;E7ENI0	.;.	A	1687	ENSP00000219905:T1687A;ENSP00000374586:T1687A	ENSP00000219905:T1687A	T	+	1	0	MGA	39822509	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.356000	0.59430	2.056000	0.61249	0.460000	0.39030	ACT	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000420229.1		+	ENST00000570161.1	Missense_Mutation	SNP	15 : 42035217 - 42035217 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	288	50
USP25	29761	broad.mit.edu	37	21	17181149	17181149	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:17181149C>T	ENST00000285681.2	+	8	1171	c.802C>T	c.(802-804)Cac>Tac	p.H268Y	USP25_ENST00000400183.2_Missense_Mutation_p.H268Y|USP25_ENST00000547201.1_3'UTR|USP25_ENST00000285679.6_Missense_Mutation_p.H268Y|USP25_ENST00000351097.5_Intron	NM_001283042.1	NP_001269971.1	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	268					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TGAGTTTACACACAAATTATT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	70	71			NA	NA	21		NA											NA				17181149		2203	4300	6503	SO:0001583	missense			AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313	29761	29761		Ubiquitin-specific peptidases	12624	protein-coding gene	gene with protein product		604736	ubiquitin specific protease 25		NA	12838346, 10612803	Standard		NM_013396	NA	Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285681.2:c.802C>T	21.37:g.17181149C>T	ENSP00000285681:p.His268Tyr	NA	C0LSZ0|Q6DHZ9|Q9H9W1	37		.	.	.	.	.	.	.	.	.	.	C	26.0	4.693941	0.88735	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000400183	T;T;T	0.30182	1.54;1.54;1.54	4.83	4.83	0.62350	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.58892	0.2154	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.991	D;D;D	0.97110	1.0;0.999;0.988	T	0.64719	-0.6341	10	0.72032	D	0.01	.	18.3146	0.90215	0.0:1.0:0.0:0.0	.	268;268;268	Q9UHP3-3;Q9UHP3-1;Q9UHP3	.;.;UBP25_HUMAN	Y	268	ENSP00000285681:H268Y;ENSP00000285679:H268Y;ENSP00000383044:H268Y	ENSP00000285679:H268Y	H	+	1	0	USP25	16103020	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.442000	0.80503	2.380000	0.81148	0.591000	0.81541	CAC	USP25-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000157963.1		+	ENST00000285681.2	Missense_Mutation	SNP	21 : 17181149 - 17181149 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	216	35
SNX32	254122	broad.mit.edu	37	11	65620368	65620368	+	Missense_Mutation	SNP	G	G	A	rs138424932	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65620368G>A	ENST00000308342.6	+	12	1522	c.1097G>A	c.(1096-1098)cGg>cAg	p.R366Q		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	366					cell communication|protein transport		phosphatidylinositol binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		AAGTCCCGCCGGGTCTCCTCT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	86	91	89		1097	3.4	0	11	dbSNP_134	89	1,8593		0,1,4296	yes	missense	SNX32	NM_152760.2	43	0,2,6496	AA,AG,GG	NA	0.0116,0.0227,0.0154	probably-damaging	366/404	65620368	2,12994	2201	4297	6498	SO:0001583	missense			AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803	254122	254122		Sorting nexins	26423	protein-coding gene	gene with protein product			sorting nexin 6B	SNX6B	NA	16782399	Standard	NM_152760	XM_005273871	NA	Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.1097G>A	11.37:g.65620368G>A	ENSP00000310620:p.Arg366Gln	NA	Q8IW53|Q96NG4	37	CCDS8113.2	.	.	.	.	.	.	.	.	.	.	G	28.1	4.886891	0.91814	2.27E-4	1.16E-4	ENSG00000172803	ENST00000308342	T	0.41400	1.0	4.31	3.4	0.38934	.	0.337367	0.21484	N	0.073800	T	0.60971	0.2310	M	0.82193	2.58	0.34384	D	0.693416	D	0.69078	0.997	P	0.61477	0.889	T	0.74000	-0.3805	10	0.87932	D	0	-4.7579	9.9529	0.41649	0.0999:0.0:0.9001:0.0	.	366	Q86XE0	SNX32_HUMAN	Q	366	ENSP00000310620:R366Q	ENSP00000310620:R366Q	R	+	2	0	SNX32	65376944	1.000000	0.71417	0.045000	0.18777	0.981000	0.71138	6.924000	0.75823	1.045000	0.40225	0.561000	0.74099	CGG	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250295.3		+	ENST00000308342.6	Missense_Mutation	SNP	11 : 65620368 - 65620368 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	745	127
SLC25A24	29957	broad.mit.edu	37	1	108742604	108742604	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:108742604T>C	ENST00000565488.1	-	1	376	c.157A>G	c.(157-159)Atc>Gtc	p.I53V	RP11-483I13.5_ENST00000564063.1_RNA|SLC25A24_ENST00000569674.1_Missense_Mutation_p.I53V	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	53	EF-hand 1.				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		CCCAGAGGGATGCCCAGGTTC	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	21	19			NA	NA	1		NA											NA				108742604		1991	4137	6128	SO:0001583	missense			AJ619961	CCDS786.1, CCDS41361.1	1p13.2	2013-05-22			ENSG00000085491	ENSG00000085491	29957	29957		Solute carriers, EF-hand domain containing	20662	protein-coding gene	gene with protein product		608744			NA	15123600	Standard	NM_013386	NM_013386	NA	Approved	DKFZp586G0123, APC1	uc001dvn.5	Q6NUK1	OTTHUMG00000011013	ENST00000565488.1:c.157A>G	1.37:g.108742604T>C	ENSP00000457733:p.Ile53Val	NA	B7ZAI9|Q5T331|Q5T485|Q6PJJ9|Q705K4|Q9P129	37	CCDS41361.1	.	.	.	.	.	.	.	.	.	.	T	6.544	0.468702	0.12461	.	.	ENSG00000085491	ENST00000264128	T	0.70986	-0.53	4.65	-4.12	0.03916	EF-hand-like domain (1);	0.297147	0.35739	N	0.003005	T	0.16769	0.0403	N	0.05510	-0.035	0.37003	D	0.895344	B	0.02656	0.0	B	0.04013	0.001	T	0.02498	-1.1150	10	0.10902	T	0.67	-3.313	3.5207	0.07741	0.3651:0.2173:0.0:0.4176	.	53	Q6NUK1	SCMC1_HUMAN	V	53	ENSP00000264128:I53V	ENSP00000264128:I53V	I	-	1	0	SLC25A24	108544127	0.987000	0.35691	0.827000	0.32855	0.003000	0.03518	-0.083000	0.11286	-0.563000	0.06078	-0.714000	0.03626	ATC	SLC25A24-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000030280.2		-	ENST00000565488.1	Missense_Mutation	SNP	1 : 108742604 - 108742604 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	98	12
C8orf31	286122	broad.mit.edu	37	8	144124636	144124636	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144124636G>T	ENST00000395172.1	+	3	495	c.143G>T	c.(142-144)aGg>aTg	p.R48M	C8orf31_ENST00000517653.1_3'UTR	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	48										breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GCATTGCAGAGGTCTCCCTTG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	42	41			NA	NA	8		NA											NA				144124636		2203	4300	6503	SO:0001583	missense				CCDS6395.1	8q24.3	2012-04-11			ENSG00000177335	ENSG00000177335	286122	286122			26731	protein-coding gene	gene with protein product					NA		Standard	NM_173687	NM_173687	NA	Approved	FLJ37131	uc003yxp.1	Q8N9H6	OTTHUMG00000164771	ENST00000395172.1:c.143G>T	8.37:g.144124636G>T	ENSP00000378601:p.Arg48Met	NA	Q6GMU7	37	CCDS6395.1	.	.	.	.	.	.	.	.	.	.	g	9.886	1.202848	0.22121	.	.	ENSG00000177335	ENST00000395172	T	0.56776	0.44	2.38	-0.493	0.12038	.	.	.	.	.	T	0.45716	0.1356	N	0.08118	0	0.09310	N	1	D	0.89917	1.0	D	0.70935	0.971	T	0.34825	-0.9813	9	0.87932	D	0	.	5.1229	0.14869	0.457:0.0:0.543:0.0	.	48	Q8N9H6	CH031_HUMAN	M	48	ENSP00000378601:R48M	ENSP00000378601:R48M	R	+	2	0	C8orf31	144196011	0.000000	0.05858	0.001000	0.08648	0.066000	0.16364	-1.977000	0.01495	-0.126000	0.11682	0.435000	0.28638	AGG	C8orf31-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380167.1		+	ENST00000395172.1	Missense_Mutation	SNP	8 : 144124636 - 144124636 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	194	9
GLIPR1L1	256710	broad.mit.edu	37	12	75763911	75763911	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75763911C>T	ENST00000312442.2	+	5	703	c.657C>T	c.(655-657)gcC>gcT	p.A219A	CAPS2_ENST00000442339.2_Intron|GLIPR1L1_ENST00000548623.1_3'UTR|GLIPR1L1_ENST00000378695.4_Silent_p.A228A	NM_152779.2	NP_689992.1	Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	228						extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						AGCAGACAGCCTTTAATCCAT	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	96	94			NA	NA	12		NA											NA				75763911		2203	4300	6503	SO:0001819	synonymous_variant			BC014603	CCDS9009.1	12q21.1	2014-06-03				ENSG00000173401	256710	256710			28392	protein-coding gene	gene with protein product		610395			NA	12477932	Standard	NM_152779	NM_152779	NA	Approved	MGC26856	uc001sxn.3	Q6UWM5	OTTHUMG00000169755	ENST00000312442.2:c.657C>T	12.37:g.75763911C>T		NA	Q96L06	37	CCDS9009.1																																																																																			GLIPR1L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405715.1		+	ENST00000312442.2	Silent	SNP	12 : 75763911 - 75763911 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	60
RNF43	54894	broad.mit.edu	37	17	56435680	56435680	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56435680C>A	ENST00000584437.1	-	8	3412	c.1457G>T	c.(1456-1458)aGc>aTc	p.S486I	RNF43_ENST00000407977.2_Missense_Mutation_p.S486I|RNF43_ENST00000577625.1_Missense_Mutation_p.S359I|RNF43_ENST00000581868.1_Missense_Mutation_p.S359I|RNF43_ENST00000577716.1_Missense_Mutation_p.S486I|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000583753.1_Missense_Mutation_p.S445I|RNF43_ENST00000500597.2_Missense_Mutation_p.S445I			Q68DV7	RNF43_HUMAN	ring finger protein 43	486	Ser-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCCCTGTAGGCTGATGTCCGT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	84	84			NA	NA	17		NA											NA				56435680		2203	4300	6503	SO:0001583	missense				CCDS11607.1	17q23.2	2013-01-09					54894	54894		RING-type (C3HC4) zinc fingers	18505	protein-coding gene	gene with protein product		612482			NA		Standard	NM_017763	NM_017763	NA	Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1457G>T	17.37:g.56435680C>A	ENSP00000463069:p.Ser486Ile	NA	A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	37	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354749	0.41700	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.34667	1.35;1.41	4.69	4.69	0.59074	.	0.283745	0.41396	D	0.000883	T	0.51227	0.1662	L	0.36672	1.1	0.36562	D	0.872467	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.85130	0.997;0.996;0.991	T	0.62358	-0.6871	10	0.87932	D	0	-19.8757	16.5861	0.84727	0.0:1.0:0.0:0.0	.	445;486;486	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	I	486;445	ENSP00000385328:S486I;ENSP00000441969:S445I	ENSP00000385328:S486I	S	-	2	0	RNF43	53790679	1.000000	0.71417	1.000000	0.80357	0.153000	0.21895	5.849000	0.69465	2.160000	0.67779	0.174000	0.16983	AGC	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444713.1		-	ENST00000584437.1	Missense_Mutation	SNP	17 : 56435680 - 56435680 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	571	93
TMTC3	160418	broad.mit.edu	37	12	88566449	88566449	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:88566449C>T	ENST00000266712.6	+	8	1346	c.1126C>T	c.(1126-1128)Cga>Tga	p.R376*		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	376						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TGTTGCCGAGCGAGTATTATA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	120	122			NA	NA	12		NA											NA				88566449		2203	4300	6503	SO:0001587	stop_gained				CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324	160418	160418		Tetratricopeptide (TTC) repeat domain containing	26899	protein-coding gene	gene with protein product					NA		Standard	NM_181783	NM_181783	NA	Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1126C>T	12.37:g.88566449C>T	ENSP00000266712:p.Arg376*	NA	Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	37	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	C	38	6.871926	0.97901	.	.	ENSG00000139324	ENST00000266712	.	.	.	5.54	3.68	0.42216	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.9127	14.6929	0.69098	0.265:0.735:0.0:0.0	.	.	.	.	X	376	.	ENSP00000266712:R376X	R	+	1	2	TMTC3	87090580	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.164000	0.31810	0.656000	0.30886	0.650000	0.86243	CGA	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406421.1		+	ENST00000266712.6	Nonsense_Mutation	SNP	12 : 88566449 - 88566449 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	676	104
COL22A1	169044	broad.mit.edu	37	8	139890402	139890402	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:139890402G>A	ENST00000303045.6	-	3	695	c.249C>T	c.(247-249)agC>agT	p.S83S	COL22A1_ENST00000435777.1_Silent_p.S83S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	83	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGGGCCGGTCGCTGTAGCGCA	0.677		NA								HNSCC(7;0.00092)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	18	17			NA	NA	8		NA											NA				139890402		2200	4292	6492	SO:0001819	synonymous_variant			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436	169044	169044		Collagens	22989	protein-coding gene	gene with protein product		610026			NA		Standard	XM_291257	NM_152888	NA	Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.249C>T	8.37:g.139890402G>A		NA	B7ZMH0|C9K0G4|Q8IVT9	37	CCDS6376.1																																																																																			COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000315905.2		-	ENST00000303045.6	Silent	SNP	8 : 139890402 - 139890402 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	79	14
TTN	7273	broad.mit.edu	37	2	179654143	179654143	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179654143T>C	ENST00000589042.1	-	13	2244	c.2020A>G	c.(2020-2022)Aga>Gga	p.R674G	TTN_ENST00000342992.6_Missense_Mutation_p.R674G|TTN_ENST00000360870.5_Missense_Mutation_p.R674G|TTN_ENST00000460472.2_Missense_Mutation_p.R628G|TTN_ENST00000359218.5_Missense_Mutation_p.R628G|TTN_ENST00000342175.6_Missense_Mutation_p.R628G|TTN_ENST00000591111.1_Missense_Mutation_p.R674G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	674							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCTAGTTCTCAGTATTGTT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													189	181	183			NA	NA	2		NA											NA				179654143		2203	4300	6503	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.2020A>G	2.37:g.179654143T>C	ENSP00000467141:p.Arg674Gly	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	T	12.20	1.866839	0.32977	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000436599	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	5.9	5.9	0.94986	Titin Z (1);Ribonuclease H-like (1);	.	.	.	.	T	0.45438	0.1342	L	0.58810	1.83	0.23657	N	0.997182	B;B;B;B;B	0.21606	0.001;0.001;0.001;0.001;0.058	B;B;B;B;B	0.18561	0.007;0.007;0.007;0.007;0.022	T	0.44251	-0.9340	9	0.87932	D	0	.	10.0642	0.42292	0.0:0.0751:0.0:0.9249	.	628;628;628;674;674	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	G	674;628;628;628;628;674;178	ENSP00000343764:R674G;ENSP00000434586:R628G;ENSP00000340554:R628G;ENSP00000352154:R628G;ENSP00000354117:R674G;ENSP00000405517:R178G	ENSP00000340554:R628G	R	-	1	2	TTN	179362388	0.946000	0.32159	1.000000	0.80357	0.996000	0.88848	2.431000	0.44775	2.266000	0.75297	0.528000	0.53228	AGA	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179654143 - 179654143 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	564	86
CASKIN2	57513	broad.mit.edu	37	17	73499216	73499216	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73499216C>T	ENST00000321617.3	-	18	2525	c.1939G>A	c.(1939-1941)Gcc>Acc	p.A647T	CASKIN2_ENST00000433559.2_Missense_Mutation_p.A565T	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	647						cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCTCGATGGCCATCAGCTCC	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	13	14			NA	NA	17		NA											NA				73499216		2195	4286	6481	SO:0001583	missense			AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303	57513	57513		Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	18200	protein-coding gene	gene with protein product		612185			NA	12040031	Standard	NM_020753	NM_020753	NA	Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.1939G>A	17.37:g.73499216C>T	ENSP00000325355:p.Ala647Thr	NA	B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	37	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163119	0.57476	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.71698	-0.59;-0.41	5.47	3.48	0.39840	.	0.145311	0.31747	N	0.007130	T	0.60971	0.2310	L	0.50333	1.59	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.54105	-0.8343	10	0.34782	T	0.22	.	8.4734	0.32999	0.0:0.7039:0.0:0.2961	.	647	Q8WXE0	CSKI2_HUMAN	T	647;565	ENSP00000325355:A647T;ENSP00000406963:A565T	ENSP00000325355:A647T	A	-	1	0	CASKIN2	71010811	0.999000	0.42202	1.000000	0.80357	0.921000	0.55340	0.742000	0.26216	0.680000	0.31366	0.655000	0.94253	GCC	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447609.1		-	ENST00000321617.3	Missense_Mutation	SNP	17 : 73499216 - 73499216 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	105	10
FMN1	342184	broad.mit.edu	37	15	33260974	33260974	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33260974G>A	ENST00000559047.1	-	5	2927	c.2928C>T	c.(2926-2928)atC>atT	p.I976I	FMN1_ENST00000334528.9_Silent_p.I753I|FMN1_ENST00000561249.1_Silent_p.I878I			Q68DA7	FMN1_HUMAN	formin 1	976	FH2.|Pro-rich.				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		AACTGGGCTCGATGGCTGGTT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	119	120			NA	NA	15		NA											NA				33260974		1838	4090	5928	SO:0001819	synonymous_variant			AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905	342184	342184			3768	protein-coding gene	gene with protein product	limb deformity protein	136535	formin (limb deformity)	LD, FMN	NA	1673046	Standard	NM_001103184	NM_001277313	NA	Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2928C>T	15.37:g.33260974G>A		NA	Q3B7I6|Q3ZAR4|Q6ZSY1	37																																																																																				FMN1-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000417414.1		-	ENST00000559047.1	Silent	SNP	15 : 33260974 - 33260974 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	797	116
DCP1B	196513	broad.mit.edu	37	12	2055426	2055426	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2055426G>A	ENST00000280665.6	-	9	1879	c.1800C>T	c.(1798-1800)atC>atT	p.I600I	DCP1B_ENST00000397173.4_Silent_p.I498I	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	600					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			AGGCTTCATAGATTATATTTA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	84	85			NA	NA	12		NA											NA				2055426		2203	4300	6503	SO:0001819	synonymous_variant			AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065	196513	196513			24451	protein-coding gene	gene with protein product		609843	DCP1 decapping enzyme homolog B (S. cerevisiae)		NA	12417715, 15067023	Standard	NM_152640	NM_152640	NA	Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.1800C>T	12.37:g.2055426G>A		NA	Q86XH9|Q96BP8|Q96MZ8	37	CCDS31727.1																																																																																			DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398244.1		-	ENST00000280665.6	Silent	SNP	12 : 2055426 - 2055426 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	264	28
EHMT2	10919	broad.mit.edu	37	6	31852732	31852732	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31852732C>T	ENST00000395728.3	-	18	2575	c.2576G>A	c.(2575-2577)cGc>cAc	p.R859H	EHMT2_ENST00000375537.4_Missense_Mutation_p.R802H|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.R825H|EHMT2_ENST00000375530.4_Missense_Mutation_p.R768H			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	802					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CAGTAGCATGCGGATCACCTC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	62	67			NA	NA	6		NA											NA				31852732		2203	4300	6503	SO:0001583	missense			AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	10919	10919	2.1.1.43	Chromatin-modifying enzymes / K-methyltransferases, Ankyrin repeat domain containing	14129	protein-coding gene	gene with protein product		604599	chromosome 6 open reading frame 30, HLA-B associated transcript 8	C6orf30, BAT8	NA	8457211, 11316813	Standard	NM_006709	XM_005274833	NA	Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000395728.3:c.2576G>A	6.37:g.31852732C>T	ENSP00000379078:p.Arg859His	NA	B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	37		.	.	.	.	.	.	.	.	.	.	C	24.6	4.548211	0.86127	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	4.28	4.28	0.50868	Ankyrin repeat-containing domain (3);	0.064020	0.64402	D	0.000011	T	0.49525	0.1562	L	0.55481	1.735	0.46981	D	0.999273	P;P;P;P	0.47350	0.894;0.87;0.894;0.743	B;B;B;B	0.41571	0.189;0.119;0.273;0.36	T	0.60969	-0.7157	10	0.66056	D	0.02	.	16.003	0.80308	0.0:1.0:0.0:0.0	.	825;768;802;616	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	H	859;825;768;802;616	ENSP00000379078:R859H;ENSP00000364678:R825H;ENSP00000364680:R768H;ENSP00000364687:R802H	ENSP00000364678:R825H	R	-	2	0	EHMT2	31960711	0.397000	0.25270	1.000000	0.80357	0.993000	0.82548	0.769000	0.26604	2.382000	0.81193	0.650000	0.86243	CGC	EHMT2-008	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000268526.1		-	ENST00000395728.3	Missense_Mutation	SNP	6 : 31852732 - 31852732 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	298	36
RNF39	80352	broad.mit.edu	37	6	30041026	30041026	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30041026C>A	ENST00000244360.6	-	3	688		c.e3-1		RNF39_ENST00000376751.3_Splice_Site	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	NA						cytoplasm	zinc ion binding				NA						GACTTCAAATCTACACAGATG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(8;188 360 1520 20207 31481)							NA				0													113	111	112			NA	NA	6		NA											NA				30041026		1511	2709	4220	SO:0001630	splice_region_variant			AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618	80352	80352		RING-type (C3HC4) zinc fingers	18064	protein-coding gene	gene with protein product		607524			NA	11130983, 11716498	Standard	NM_170769	NM_170769	NA	Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.591-1G>T	6.37:g.30041026C>A		NA	A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	37	CCDS4673.1	.	.	.	.	.	.	.	.	.	.	c	8.023	0.760024	0.15846	.	.	ENSG00000204618	ENST00000376751;ENST00000244360	.	.	.	3.99	3.99	0.46301	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8043	0.52145	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RNF39	30149005	1.000000	0.71417	0.995000	0.50966	0.116000	0.19942	3.515000	0.53429	2.242000	0.73789	0.466000	0.42574	.	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076625.3	Intron	-	ENST00000244360.6	Splice_Site	SNP	6 : 30041026 - 30041026 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	510	97
PRKACG	5568	broad.mit.edu	37	9	71628475	71628475	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71628475C>A	ENST00000377276.2	-	1	564	c.534G>T	c.(532-534)caG>caT	p.Q178H		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	178	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GCAGGTAGCCCTGCTGGTCGA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(110;2236 2623 32146)							NA				0													41	40	40			NA	NA	9		NA											NA				71628475		2203	4300	6503	SO:0001583	missense			M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	5568	5568	2.7.11.1		9382	protein-coding gene	gene with protein product		176893			NA	2342480, 9598317	Standard		NM_002732	NA	Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.534G>T	9.37:g.71628475C>A	ENSP00000366488:p.Gln178His	NA	O60850|Q5VZ02|Q86YI1	37	CCDS6625.1	.	.	.	.	.	.	.	.	.	.	C	2.585	-0.296432	0.05532	.	.	ENSG00000165059	ENST00000377276	T	0.07908	3.15	1.6	-3.21	0.05140	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.29964	U	0.010749	T	0.03477	0.0100	N	0.22421	0.69	0.25935	N	0.982946	B	0.02656	0.0	B	0.09377	0.004	T	0.36866	-0.9730	10	0.21014	T	0.42	.	1.4287	0.02328	0.2056:0.4383:0.203:0.1532	.	178	P22612	KAPCG_HUMAN	H	178	ENSP00000366488:Q178H	ENSP00000366488:Q178H	Q	-	3	2	PRKACG	70818295	0.005000	0.15991	0.000000	0.03702	0.007000	0.05969	-2.528000	0.00945	-1.501000	0.01817	-0.373000	0.07131	CAG	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052559.1		-	ENST00000377276.2	Missense_Mutation	SNP	9 : 71628475 - 71628475 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	156	39
IST1	9798	broad.mit.edu	37	16	71950546	71950546	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71950546G>T	ENST00000378799.6	+	3	625		c.e3+1		IST1_ENST00000535424.1_Splice_Site|IST1_ENST00000329908.8_Splice_Site|IST1_ENST00000538565.1_Intron|IST1_ENST00000541571.2_Splice_Site|IST1_ENST00000538850.1_Intron|IST1_ENST00000544564.1_Splice_Site|IST1_ENST00000378798.5_Splice_Site|IST1_ENST00000606369.1_Intron			P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	NA					cell cycle|cell division	cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment	protein binding				NA						AGTCTATGAAGTAAGATATTT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	65	67			NA	NA	16		NA											NA				71950546		2198	4300	6498	SO:0001630	splice_region_variant			BC004359	CCDS10905.1, CCDS59271.1, CCDS59272.1, CCDS59273.1, CCDS59274.1	16q22.2	2011-08-18	2011-08-18	2011-08-18	ENSG00000182149	ENSG00000182149	9798	9798			28977	protein-coding gene	gene with protein product			KIAA0174	KIAA0174	NA	8724849, 19129480	Standard	NM_014761	NM_001270975	NA	Approved		uc002fbm.2	P53990	OTTHUMG00000137597	ENST00000378799.6:c.269+1G>T	16.37:g.71950546G>T		NA	Q3SYM4|Q9BQ81|Q9BWN2	37	CCDS59272.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258884	0.80246	.	.	ENSG00000182149	ENST00000535424;ENST00000378799;ENST00000424485;ENST00000538963;ENST00000329908;ENST00000378798;ENST00000456820	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7108	0.91656	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA0174	70508047	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.869000	0.99810	2.433000	0.82419	0.655000	0.94253	.	IST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269005.2	Intron	+	ENST00000378799.6	Splice_Site	SNP	16 : 71950546 - 71950546 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	243	54
SCN2B	6327	broad.mit.edu	37	11	118039321	118039321	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118039321G>A	ENST00000278947.5	-	2	457	c.216C>T	c.(214-216)tgC>tgT	p.C72C		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	72	Ig-like C2-type.				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		AGCAGTTGTTGCACTCCTGGT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	171	175			NA	NA	11		NA											NA				118039321		2200	4296	6496	SO:0001819	synonymous_variant			AY358945	CCDS8390.1	11q23.3	2013-09-19	2012-02-28		ENSG00000149575	ENSG00000149575	6327	6327		Sodium channels, Voltage-gated ion channels / Sodium channels, Immunoglobulin superfamily / V-set domain containing	10589	protein-coding gene	gene with protein product		601327	sodium channel, voltage-gated, type II, beta polypeptide, sodium channel, voltage-gated, type II, beta		NA	10198179	Standard	NM_004588	NM_004588	NA	Approved		uc001psf.2	O60939	OTTHUMG00000048248	ENST00000278947.5:c.216C>T	11.37:g.118039321G>A		NA	O75302|Q9UNN3	37	CCDS8390.1																																																																																			SCN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109748.2		-	ENST00000278947.5	Silent	SNP	11 : 118039321 - 118039321 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	890	180
KDM2B	84678	broad.mit.edu	37	12	121880187	121880187	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121880187C>T	ENST00000377069.4	-	18	3256	c.2850G>A	c.(2848-2850)ccG>ccA	p.P950P	KDM2B_ENST00000377071.4_Silent_p.P1019P|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Silent_p.P387P	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1019					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TGACACGGGGCGGGCTGCGCA	0.741		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													5	6	6			NA	NA	12		NA											NA				121880187		1642	3649	5291	SO:0001819	synonymous_variant			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094	84678	84678		F-boxes / Leucine-rich repeats, Chromatin-modifying enzymes / K-demethylases	13610	protein-coding gene	gene with protein product	jumonji C domain-containing histone demethylase 1B	609078	F-box and leucine-rich repeat protein 10	FBXL10	NA	10799292	Standard	NM_032590	NM_032590	NA	Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377069.4:c.2850G>A	12.37:g.121880187C>T		NA	Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	37	CCDS41849.1																																																																																			KDM2B-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402131.2		-	ENST00000377069.4	Silent	SNP	12 : 121880187 - 121880187 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	103	15
BRCA2	675	broad.mit.edu	37	13	32906448	32906448	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32906448G>A	ENST00000380152.3	+	10	1066	c.833G>A	c.(832-834)aGc>aAc	p.S278N	BRCA2_ENST00000544455.1_Missense_Mutation_p.S278N			P51587	BRCA2_HUMAN	breast cancer 2, early onset	278					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAGTAAATAGCTGCAAAGAC	0.289		NA	D, Mis, N, F, S		breast, ovarian, pancreatic	breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		L, E	0													51	53	52			NA	NA	13		NA											NA				32906448		2203	4294	6497	SO:0001583	missense	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618	675	675		Fanconi anemia, complementation groups	1101	protein-coding gene	gene with protein product	BRCA1/BRCA2-containing complex, subunit 2	600185	Fanconi anemia, complementation group D1	FANCD1, FACD, FANCD	NA	8091231, 7581463, 15057823	Standard	NM_000059	NM_000059	NA	Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.833G>A	13.37:g.32906448G>A	ENSP00000369497:p.Ser278Asn	NA	O00183|O15008|Q13879|Q5TBJ7	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464933	0.26335	.	.	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	T;T	0.00808	5.67;5.67	5.74	2.66	0.31614	.	0.448251	0.24745	N	0.035951	T	0.00845	0.0028	L	0.29908	0.895	0.09310	N	1	B;B	0.25719	0.132;0.007	B;B	0.20184	0.028;0.008	T	0.49021	-0.8982	10	0.44086	T	0.13	.	5.4333	0.16466	0.273:0.153:0.574:0.0	.	278;278	P51587;A1YBP1	BRCA2_HUMAN;.	N	278;278;276	ENSP00000369497:S278N;ENSP00000439902:S278N	ENSP00000369497:S278N	S	+	2	0	BRCA2	31804448	0.000000	0.05858	0.011000	0.14972	0.815000	0.46073	0.286000	0.18902	0.784000	0.33661	0.655000	0.94253	AGC	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046000.2		+	ENST00000380152.3	Missense_Mutation	SNP	13 : 32906448 - 32906448 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	259	45
ADCY7	113	broad.mit.edu	37	16	50348221	50348221	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50348221G>A	ENST00000394697.2	+	24	3215	c.2875G>A	c.(2875-2877)Gcc>Acc	p.A959T	ADCY7_ENST00000254235.3_Missense_Mutation_p.A959T			P51828	ADCY7_HUMAN	adenylate cyclase 7	959	Guanylate cyclase 2.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	GCGGCAGCATGCCCACATTGG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	66	74			NA	NA	16		NA											NA				50348221		2198	4300	6498	SO:0001583	missense			D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	113	113	4.6.1.1	Adenylate cyclases	238	protein-coding gene	gene with protein product		600385			NA	7860067	Standard		NM_001286057	NA	Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.2875G>A	16.37:g.50348221G>A	ENSP00000378187:p.Ala959Thr	NA	A0AVA6	37	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.368059	0.24771	.	.	ENSG00000121281	ENST00000394697;ENST00000254235	T;T	0.29397	1.57;1.57	4.95	1.89	0.25635	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.156878	0.29059	U	0.013273	T	0.19327	0.0464	N	0.25380	0.74	0.80722	D	1	B	0.06786	0.001	B	0.12837	0.008	T	0.06826	-1.0805	10	0.20519	T	0.43	.	10.9179	0.47148	0.1706:0.0:0.8294:0.0	.	959	P51828	ADCY7_HUMAN	T	959	ENSP00000378187:A959T;ENSP00000254235:A959T	ENSP00000254235:A959T	A	+	1	0	ADCY7	48905722	0.997000	0.39634	0.324000	0.25361	0.928000	0.56348	3.267000	0.51577	0.278000	0.22164	0.650000	0.86243	GCC	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256877.3		+	ENST00000394697.2	Missense_Mutation	SNP	16 : 50348221 - 50348221 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	305	36
SLC2A8	29988	broad.mit.edu	37	9	130169397	130169397	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130169397C>T	ENST00000373371.3	+	10	1392	c.1303C>T	c.(1303-1305)Ctc>Ttc	p.L435F	SLC2A8_ENST00000373352.1_Missense_Mutation_p.L172F|SLC2A8_ENST00000373360.3_Missense_Mutation_p.P386L	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	435						cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						GCAGGAGGTCCTCAGGCCCTA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	128	133			NA	NA	9		NA											NA				130169397		2203	4300	6503	SO:0001583	missense			AJ245937	CCDS6870.1, CCDS65138.1, CCDS75903.1	9q33.3	2013-05-22	2008-09-02		ENSG00000136856	ENSG00000136856	29988	29988		Solute carriers	13812	protein-coding gene	gene with protein product		605245	solute carrier family 2 (facilitated glucose transporter) member 8		NA	10671487, 10821868	Standard	NM_014580	NM_014580	NA	Approved	GLUTX1, GLUT8	uc004bqu.4	Q9NY64	OTTHUMG00000020702	ENST00000373371.3:c.1303C>T	9.37:g.130169397C>T	ENSP00000362469:p.Leu435Phe	NA	Q8WUZ9|Q9NSC4	37	CCDS6870.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.22|12.22	1.872672|1.872672	0.33069|0.33069	.|.	.|.	ENSG00000136856|ENSG00000136856	ENST00000373371;ENST00000373352|ENST00000373360	T;T|T	0.76060|0.56941	-0.99;-0.99|0.43	5.24|5.24	5.24|5.24	0.73138|0.73138	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.142073|.	0.48286|.	D|.	0.000199|.	T|T	0.42381|0.42381	0.1200|0.1200	N|N	0.21282|0.21282	0.65|0.65	0.54753|0.54753	D|D	0.999988|0.999988	D|B	0.89917|0.24258	1.0|0.1	D|B	0.97110|0.21708	1.0|0.036	T|T	0.39542|0.39542	-0.9609|-0.9609	10|9	0.21540|0.87932	T|D	0.41|0	.|.	16.3503|16.3503	0.83202|0.83202	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	435|386	Q9NY64|Q5VVV9	GTR8_HUMAN|.	F|L	435;172|386	ENSP00000362469:L435F;ENSP00000362450:L172F|ENSP00000362458:P386L	ENSP00000362450:L172F|ENSP00000362458:P386L	L|P	+|+	1|2	0|0	SLC2A8|SLC2A8	129209218|129209218	0.629000|0.629000	0.27146|0.27146	1.000000|1.000000	0.80357|0.80357	0.828000|0.828000	0.46876|0.46876	2.375000|2.375000	0.44283|0.44283	2.445000|2.445000	0.82738|0.82738	0.655000|0.655000	0.94253|0.94253	CTC|CCT	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054177.1		+	ENST00000373371.3	Missense_Mutation	SNP	9 : 130169397 - 130169397 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	689	22
GNAI1	2770	broad.mit.edu	37	7	79842159	79842159	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:79842159T>A	ENST00000351004.3	+	7	1221	c.848T>A	c.(847-849)cTc>cAc	p.L283H	GNAI1_ENST00000457358.2_Missense_Mutation_p.L231H	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	283					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						AAGAGCCCTCTCACTATATGC	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	73	70			NA	NA	7		NA											NA				79842159		2203	4292	6495	SO:0001583	missense			AL049933	CCDS5595.1, CCDS59061.1	7q21-q22	2008-07-18			ENSG00000127955	ENSG00000127955	2770	2770			4384	protein-coding gene	gene with protein product	Gi1 protein alpha subunit	139310			NA	3110783	Standard	NM_002069	NM_002069	NA	Approved		uc003uhb.1	P63096	OTTHUMG00000023523	ENST00000351004.3:c.848T>A	7.37:g.79842159T>A	ENSP00000343027:p.Leu283His	NA	A8KA88|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	37	CCDS5595.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.750899	0.89753	.	.	ENSG00000127955	ENST00000351004;ENST00000457358	D;D	0.90620	-2.7;-2.7	6.13	6.13	0.99165	.	0.000000	0.85682	D	0.000000	D	0.97554	0.9199	H	0.98818	4.34	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.99160	1.0861	9	.	.	.	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	283	P63096	GNAI1_HUMAN	H	283;231	ENSP00000343027:L283H;ENSP00000410572:L231H	.	L	+	2	0	GNAI1	79680095	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.994000	0.88315	2.367000	0.80283	0.529000	0.55759	CTC	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253254.1		+	ENST00000351004.3	Missense_Mutation	SNP	7 : 79842159 - 79842159 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	377	75
CHMP1A	5119	broad.mit.edu	37	16	89712332	89712332	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89712332G>A	ENST00000550102.1	-	0	767				CHMP1A_ENST00000253475.5_Missense_Mutation_p.A238V|CHMP1A_ENST00000397901.3_3'UTR|CHMP1A_ENST00000535997.2_3'UTR			Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A	NA					cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		CTAAGGCCACGCAGGCCTGGC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	61	57			NA	NA	16		NA											NA				89712332		2020	4161	6181	SO:0001624	3_prime_UTR_variant			U58048	CCDS45552.1	16q24.3	2011-09-21	2011-09-21	2007-03-20	ENSG00000131165	ENSG00000131165	5119	5119		Charged multivesicular body proteins	8740	protein-coding gene	gene with protein product		164010	procollagen (type III) N-endopeptidase, chromatin modifying protein 1A	PRSM1, PCOLN3	NA	11559748, 11559747	Standard	NM_002768	NM_002768	NA	Approved	KIAA0047, CHMP1, Vps46A	uc002fnu.4	Q9HD42	OTTHUMG00000169521	ENST00000550102.1:c.*142C>T	16.37:g.89712332G>A		NA	A2RU09|Q14468|Q15779|Q96G31	37		.	.	.	.	.	.	.	.	.	.	G	7.652	0.683188	0.14907	.	.	ENSG00000131165	ENST00000253475	.	.	.	2.63	-1.04	0.10068	.	3.116920	0.01969	U	0.043940	T	0.24774	0.0601	N	0.08118	0	0.09310	N	1	B;B	0.18610	0.006;0.029	B;B	0.09377	0.003;0.004	T	0.29852	-0.9998	9	0.87932	D	0	14.5226	6.4226	0.21752	0.3913:0.3273:0.2814:0.0	.	238;330	A6NG32;D3DX81	.;.	V	238	.	ENSP00000253475:A238V	A	-	2	0	CHMP1A	88239833	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-1.320000	0.02700	-0.338000	0.08413	-0.256000	0.11100	GCG	CHMP1A-011	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000404586.1		-	ENST00000550102.1	3'UTR	SNP	16 : 89712332 - 89712332 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	139	25
STOX1	219736	broad.mit.edu	37	10	70644062	70644062	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70644062G>A	ENST00000298596.6	+	3	593	c.510G>A	c.(508-510)acG>acA	p.T170T	STOX1_ENST00000421961.2_Silent_p.T60T|STOX1_ENST00000399165.4_Silent_p.T170T|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399169.4_Silent_p.T170T	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	170						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CTCTGGGAACGCTGATTAAAG	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	89	91			NA	NA	10		NA											NA				70644062		1876	4120	5996	SO:0001819	synonymous_variant			AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730	219736	219736			23508	protein-coding gene	gene with protein product		609397	chromosome 10 open reading frame 24	C10orf24	NA		Standard	NM_152709	NM_152709	NA	Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.510G>A	10.37:g.70644062G>A		NA	A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	37	CCDS41535.1																																																																																			STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276849.3		+	ENST00000298596.6	Silent	SNP	10 : 70644062 - 70644062 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	640	45
EIF4G1	1981	broad.mit.edu	37	3	184045152	184045152	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184045152C>T	ENST00000392537.2	+	21	3563	c.3316C>T	c.(3316-3318)Cgg>Tgg	p.R1106W	EIF4G1_ENST00000352767.3_Missense_Mutation_p.R1200W|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R1154W|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R1107W|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R1193W|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R997W|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R1029W|EIF4G1_ENST00000342981.4_Missense_Mutation_p.R1194W|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R1200W|EIF4G1_ENST00000346169.2_Missense_Mutation_p.R1193W|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R1030W|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R1153W|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R998W|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R1200W	NM_198244.2	NP_937887	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1193					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGTGGAGGAGCGGAGTAGAGA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	38	42	40		3598,3598,2992,3580,3577,3085,3316	4.3	1	3		40	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	EIF4G1	NM_001194946.1,NM_001194947.1,NM_004953.4,NM_182917.4,NM_198241.2,NM_198242.2,NM_198244.2	101,101,101,101,101,101,101	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1200/1607,1200/1607,998/1405,1194/1601,1193/1600,1029/1436,1106/1513	184045152	1,13005	2203	4300	6503	SO:0001583	missense			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867	1981	1981		Parkinson disease	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F	NA	1429670, 9372926, 21907011	Standard	NM_182917	NM_182917	NA	Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000392537.2:c.3316C>T	3.37:g.184045152C>T	ENSP00000376320:p.Arg1106Trp	NA	D3DNT4|D3DNT5|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	37	CCDS3260.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.444943	0.83993	0.0	1.16E-4	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.04603	3.81;3.8;3.72;3.8;3.62;3.8;3.72;3.79;3.81;3.8;3.8;3.61;3.59;3.59	5.2	4.33	0.51752	.	0.316936	0.33753	N	0.004598	T	0.11281	0.0275	L	0.36672	1.1	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.68765	0.96;0.96;0.96	T	0.02893	-1.1097	10	0.62326	D	0.03	-14.8784	8.8632	0.35269	0.1826:0.7382:0.0:0.0792	.	1200;1194;1193	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	W	1193;1153;1106;1200;1029;1200;1107;1194;1193;1200;1154;1030;998;997	ENSP00000316879:R1193W;ENSP00000391935:R1153W;ENSP00000376320:R1106W;ENSP00000371767:R1200W;ENSP00000317600:R1029W;ENSP00000338020:R1200W;ENSP00000407682:R1107W;ENSP00000343450:R1194W;ENSP00000323737:R1193W;ENSP00000416255:R1200W;ENSP00000395974:R1154W;ENSP00000399858:R1030W;ENSP00000411826:R998W;ENSP00000404754:R997W	ENSP00000323737:R1193W	R	+	1	2	EIF4G1	185527846	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.386000	0.52492	1.422000	0.47177	0.655000	0.94253	CGG	EIF4G1-003	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345729.2		+	ENST00000392537.2	Missense_Mutation	SNP	3 : 184045152 - 184045152 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	373	63
TBC1D2	55357	broad.mit.edu	37	9	101017623	101017623	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101017623G>A	ENST00000375066.5	-	1	292	c.201C>T	c.(199-201)cgC>cgT	p.R67R	TBC1D2_ENST00000342112.5_5'UTR|TBC1D2_ENST00000375064.1_Silent_p.R67R	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	67	Interaction with CADH1.|PH.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		AGAAGAACCAGCGGGATTTCC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	78	76			NA	NA	9		NA											NA				101017623		2203	4300	6503	SO:0001819	synonymous_variant			AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383	55357	55357			18026	protein-coding gene	gene with protein product	prostate antigen recognized and identified by SEREX	609871			NA		Standard	NM_018421	NM_018421	NA	Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375066.5:c.201C>T	9.37:g.101017623G>A		NA	B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	37	CCDS35080.1																																																																																			TBC1D2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053367.1		-	ENST00000375066.5	Silent	SNP	9 : 101017623 - 101017623 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	444	68
MYH1	4619	broad.mit.edu	37	17	10397923	10397923	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10397923C>T	ENST00000226207.5	-	38	5628	c.5534G>A	c.(5533-5535)cGc>cAc	p.R1845H	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1845				R -> H (in Ref. 4; CAA27380).		muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTCATGTTTGCGTAGACCCTT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													227	206	213			NA	NA	17		NA											NA				10397923		2203	4300	6503	SO:0001583	missense				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061	4619	4619		Myosins / Myosin superfamily : Class II	7567	protein-coding gene	gene with protein product	myosin heavy chain IIx/d	160730	myosin, heavy polypeptide 1, skeletal muscle, adult		NA	6304733	Standard	NM_005963	NM_005963	NA	Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5534G>A	17.37:g.10397923C>T	ENSP00000226207:p.Arg1845His	NA	Q14CA4|Q9Y622	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955331	0.73902	.	.	ENSG00000109061	ENST00000226207	D	0.83163	-1.69	5.09	5.09	0.68999	Myosin tail (1);	0.000000	0.44097	U	0.000487	D	0.88548	0.6466	M	0.87827	2.91	0.80722	D	1	D	0.56521	0.976	P	0.48304	0.573	D	0.90525	0.4491	10	0.56958	D	0.05	.	18.8437	0.92196	0.0:1.0:0.0:0.0	.	1845	P12882	MYH1_HUMAN	H	1845	ENSP00000226207:R1845H	ENSP00000226207:R1845H	R	-	2	0	MYH1	10338648	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.044000	0.71012	2.523000	0.85059	0.561000	0.74099	CGC	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252725.1		-	ENST00000226207.5	Missense_Mutation	SNP	17 : 10397923 - 10397923 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	723	111
PCDH18	54510	broad.mit.edu	37	4	138451342	138451342	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:138451342C>T	ENST00000507846.1	-	2	1794	c.1241G>A	c.(1240-1242)cGa>cAa	p.R414Q	PCDH18_ENST00000344876.4_Missense_Mutation_p.R634Q|PCDH18_ENST00000412923.2_Missense_Mutation_p.R634Q|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron			Q9HCL0	PCD18_HUMAN	protocadherin 18	634	Cadherin 4.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GTCACATGATCGTGGATCAAT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													224	197	206			NA	NA	4		NA											NA				138451342		2203	4300	6503	SO:0001583	missense			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184	54510	54510		Cadherins / Protocadherins : Non-clustered	14268	protein-coding gene	gene with protein product		608287			NA	10835267, 11549318	Standard	NM_019035	XM_005263070	NA	Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000507846.1:c.1241G>A	4.37:g.138451342C>T	ENSP00000425903:p.Arg414Gln	NA	A8K7K3|B7ZKT1|Q52LS2	37		.	.	.	.	.	.	.	.	.	.	C	11.29	1.594153	0.28445	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.51325	0.71;0.71;0.71	5.93	2.81	0.32909	Cadherin (4);Cadherin-like (1);	0.249600	0.20560	N	0.089923	T	0.32496	0.0831	L	0.38733	1.17	0.09310	N	0.999995	B;B;B	0.20671	0.023;0.003;0.047	B;B;B	0.17098	0.012;0.003;0.017	T	0.14839	-1.0458	10	0.25106	T	0.35	.	6.8418	0.23967	0.0:0.5662:0.0:0.4338	.	414;634;634	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	Q	634;634;414	ENSP00000355082:R634Q;ENSP00000390688:R634Q;ENSP00000425903:R414Q	ENSP00000355082:R634Q	R	-	2	0	PCDH18	138670792	0.001000	0.12720	0.964000	0.40570	0.992000	0.81027	1.013000	0.29937	0.791000	0.33826	0.563000	0.77884	CGA	PCDH18-003	NOVEL	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000364616.1		-	ENST00000507846.1	Missense_Mutation	SNP	4 : 138451342 - 138451342 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1203	228
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42136770	42136770	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42136770C>T	ENST00000342159.4	+	17	1682	c.1674C>T	c.(1672-1674)tgC>tgT	p.C558C	PLA2G4B_ENST00000452633.1_Silent_p.C327C|PLA2G4B_ENST00000458483.1_Silent_p.C327C|JMJD7-PLA2G4B_ENST00000382448.4_Silent_p.C558C|PLA2G4B_ENST00000542534.2_Silent_p.C558C	NM_001198588.1	NP_001185517.1	P0C869	PA24B_HUMAN	JMJD7-PLA2G4B readthrough	327	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						TCTTGGATTGCGTCTCCTACA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	82	82			NA	NA	15		NA											NA				42136770		2203	4300	6503	SO:0001819	synonymous_variant				CCDS32202.1, CCDS55961.1	15q11.2-q21.3	2010-08-17			ENSG00000168970	ENSG00000168970	8681	8681			34449	other	readthrough					NA		Standard		NM_005090	NA	Approved		uc001zoo.4		OTTHUMG00000044442	ENST00000342159.4:c.1674C>T	15.37:g.42136770C>T		NA	B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	37	CCDS55961.1																																																																																			JMJD7-PLA2G4B-002	NOVEL	basic|readthrough_transcript|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326088.1		+	ENST00000342159.4	Silent	SNP	15 : 42136770 - 42136770 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	623	43
ARNT2	9915	broad.mit.edu	37	15	80845037	80845037	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:80845037C>T	ENST00000533983.1	+	11	1317	c.978C>T	c.(976-978)ttC>ttT	p.F326F	ARNT2_ENST00000527771.1_Silent_p.F326F|ARNT2_ENST00000303329.4_Silent_p.F337F			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	337	PAS 2.				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CCACAGAGTTCTTATCCCGGC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													170	142	152			NA	NA	15		NA											NA				80845037		2203	4300	6503	SO:0001819	synonymous_variant			AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379	9915	9915		Basic helix-loop-helix proteins	16876	protein-coding gene	gene with protein product		606036			NA	11247670	Standard		NM_014862	NA	Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000533983.1:c.978C>T	15.37:g.80845037C>T		NA	B4DIS7|O15024|Q8IYC2	37																																																																																				ARNT2-006	KNOWN	alternative_5_UTR|basic	protein_coding	NA	protein_coding	OTTHUMT00000384436.2		+	ENST00000533983.1	Silent	SNP	15 : 80845037 - 80845037 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	551	18
ZNF793	390927	broad.mit.edu	37	19	38028553	38028553	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38028553A>C	ENST00000588578.1	+	0	1911				ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000587143.1_Missense_Mutation_p.K331N|ZNF793_ENST00000445217.1_Missense_Mutation_p.K331N|ZNF793_ENST00000542455.1_Missense_Mutation_p.K331N			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TACATCGAAAAATGCACACAG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(44;400 1431 1499 19093)							NA				0													89	100	96			NA	NA	19		NA											NA				38028553		2168	4274	6442	SO:0001624	3_prime_UTR_variant			AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227	390927	390927		Zinc fingers, C2H2-type, -	33115	protein-coding gene	gene with protein product					NA		Standard	NM_001013659	NM_001013659	NA	Approved		uc010efm.3	Q6ZN11		ENST00000588578.1:c.*1143A>C	19.37:g.38028553A>C		NA	Q7Z3Q9	37		.	.	.	.	.	.	.	.	.	.	A	17.99	3.523175	0.64747	.	.	ENSG00000188227	ENST00000542455;ENST00000418827;ENST00000445217;ENST00000322299	T;T	0.01084	5.36;5.36	4.13	3.11	0.35812	.	0.000000	0.39985	N	0.001207	T	0.02848	0.0085	L	0.48174	1.505	0.19945	N	0.999944	P	0.51791	0.948	P	0.57425	0.82	T	0.31806	-0.9930	10	0.87932	D	0	.	8.5071	0.33195	0.9037:0.0:0.0963:0.0	.	331	E9PGN4	.	N	331;331;331;330	ENSP00000444355:K331N;ENSP00000396402:K331N	ENSP00000318811:K330N	K	+	3	2	ZNF793	42720393	0.000000	0.05858	0.825000	0.32803	0.997000	0.91878	-0.968000	0.03817	0.737000	0.32582	0.528000	0.53228	AAA	ZNF793-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000458623.1		+	ENST00000588578.1	3'UTR	SNP	19 : 38028553 - 38028553 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	163	28
PLXNB3	5365	broad.mit.edu	37	X	153032615	153032615	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153032615G>T	ENST00000361971.5	+	3	447	c.333G>T	c.(331-333)caG>caT	p.Q111H	PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538966.1_Missense_Mutation_p.Q134H|PLXNB3_ENST00000538776.1_Intron|PLXNB3_ENST00000538282.1_Intron	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	111	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CACAGGCCCAGCTCACTGACA	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	17	18			NA	NA	X		NA											NA				153032615		2197	4290	6487	SO:0001583	missense			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753	5365	5365		Plexins	9105	protein-coding gene	gene with protein product		300214		PLXN6	NA	10520995	Standard		NM_005393	NA	Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.333G>T	X.37:g.153032615G>T	ENSP00000355378:p.Gln111His	NA	Q9HDA4	37	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	7.906	0.735469	0.15574	.	.	ENSG00000198753	ENST00000538966;ENST00000361971	T;T	0.04551	3.6;3.6	4.79	2.82	0.32997	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.549822	0.15044	N	0.283720	T	0.04679	0.0127	L	0.43152	1.355	0.24397	N	0.994723	B;B	0.21688	0.059;0.01	B;B	0.25506	0.061;0.034	T	0.28364	-1.0046	10	0.42905	T	0.14	.	3.9563	0.09391	0.0968:0.1546:0.5881:0.1605	.	134;111	F5H773;Q9ULL4	.;PLXB3_HUMAN	H	134;111	ENSP00000442736:Q134H;ENSP00000355378:Q111H	ENSP00000355378:Q111H	Q	+	3	2	PLXNB3	152685809	0.018000	0.18449	0.989000	0.46669	0.140000	0.21249	0.918000	0.28678	1.961000	0.56991	0.468000	0.43344	CAG	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000061063.1		+	ENST00000361971.5	Missense_Mutation	SNP	X : 153032615 - 153032615 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	84	31
GABRA4	2557	broad.mit.edu	37	4	46930768	46930768	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46930768G>A	ENST00000264318.3	-	9	2121	c.1139C>T	c.(1138-1140)aCa>aTa	p.T380I		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	380					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATTGGCATTTGTATTCTGAAA	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(6;283 369 8234 12290 33402)							NA				0													32	34	33			NA	NA	4		NA											NA				46930768		2201	4295	6496	SO:0001583	missense				CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158	2557	2557		GABA receptors, Ligand-gated ion channels / GABA(A) receptors	4078	protein-coding gene	gene with protein product	GABA(A) receptor, alpha 4	137141			NA	7607683	Standard		NM_000809	NA	Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1139C>T	4.37:g.46930768G>A	ENSP00000264318:p.Thr380Ile	NA	Q8IYR7	37	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	6.905	0.536456	0.13188	.	.	ENSG00000109158	ENST00000264318	D	0.85861	-2.04	5.61	3.89	0.44902	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.336666	0.12855	U	0.433617	T	0.78039	0.4221	L	0.40543	1.245	0.30491	N	0.771401	B	0.06786	0.001	B	0.10450	0.005	T	0.67499	-0.5655	10	0.20519	T	0.43	.	9.7323	0.40368	0.1585:0.0:0.8415:0.0	.	380	P48169	GBRA4_HUMAN	I	380	ENSP00000264318:T380I	ENSP00000264318:T380I	T	-	2	0	GABRA4	46625525	1.000000	0.71417	0.015000	0.15790	0.207000	0.24258	2.705000	0.47127	0.744000	0.32741	0.655000	0.94253	ACA	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216893.1		-	ENST00000264318.3	Missense_Mutation	SNP	4 : 46930768 - 46930768 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	200	44
AMPH	273	broad.mit.edu	37	7	38502604	38502604	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:38502604C>T	ENST00000356264.2	-	10	1074	c.859G>A	c.(859-861)Gca>Aca	p.A287T	AMPH_ENST00000325590.5_Missense_Mutation_p.A287T|AMPH_ENST00000428293.2_Missense_Mutation_p.A287T	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	287					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		p.A287T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CGTGCTGGTGCGGGAGACGCA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)						C	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	160	150	153		859,859	5.3	1	7		153	0,8600		0,0,4300	no	missense,missense	AMPH	NM_001635.3,NM_139316.2	58,58	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging	287/696,287/654	38502604	1,13005	2203	4300	6503	SO:0001583	missense				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053	273	273			471	protein-coding gene	gene with protein product		600418	amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen), amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)		NA	8245793	Standard	NM_001635	NM_139316	NA	Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.859G>A	7.37:g.38502604C>T	ENSP00000348602:p.Ala287Thr	NA	A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	37	CCDS5456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.4|22.4	4.284931|4.284931	0.80803|0.80803	2.27E-4|2.27E-4	0.0|0.0	ENSG00000078053|ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242;ENST00000544070|ENST00000441628	T;T;T|.	0.41400|.	1.0;1.0;1.0|.	6.17|6.17	5.3|5.3	0.74995|0.74995	.|.	0.051594|.	0.85682|.	D|.	0.000000|.	T|T	0.69015|0.69015	0.3064|0.3064	L|L	0.54323|0.54323	1.7|1.7	0.50313|0.50313	D|D	0.999864|0.999864	D;D;P|.	0.89917|.	1.0;1.0;0.887|.	D;D;B|.	0.65684|.	0.937;0.91;0.116|.	T|T	0.67405|0.67405	-0.5679|-0.5679	10|5	0.23891|.	T|.	0.37|.	-16.4707|-16.4707	15.5723|15.5723	0.76349|0.76349	0.0:0.9345:0.0:0.0655|0.0:0.9345:0.0:0.0655	.|.	287;287;43|.	P49418-2;P49418;Q8NFL4|.	.;AMPH_HUMAN;.|.	T|H	287;287;287;57;290|37	ENSP00000317441:A287T;ENSP00000348602:A287T;ENSP00000390734:A287T|.	ENSP00000317441:A287T|.	A|R	-|-	1|2	0|0	AMPH|AMPH	38469129|38469129	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.591000|0.591000	0.36615|0.36615	6.321000|6.321000	0.72881|0.72881	1.632000|1.632000	0.50472|0.50472	0.655000|0.655000	0.94253|0.94253	GCA|CGC	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226953.2		-	ENST00000356264.2	Missense_Mutation	SNP	7 : 38502604 - 38502604 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	627	112
FAT4	79633	broad.mit.edu	37	4	126242553	126242553	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126242553G>A	ENST00000394329.3	+	1	5000	c.4987G>A	c.(4987-4989)Gtg>Atg	p.V1663M		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1663	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGAGGCCCCAGTGGAGTATTA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	85	85			NA	NA	4		NA											NA				126242553		1846	4084	5930	SO:0001583	missense			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159	79633	79633		Cadherins / Cadherin-related	23109	protein-coding gene	gene with protein product	cadherin-related family member 11	612411	FAT tumor suppressor homolog 4 (Drosophila)		NA	15003449	Standard	NM_024582	NM_024582	NA	Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4987G>A	4.37:g.126242553G>A	ENSP00000377862:p.Val1663Met	NA	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212870	0.58452	.	.	ENSG00000196159	ENST00000394329	T	0.43294	0.95	4.34	4.34	0.51931	Cadherin (3);Cadherin-like (1);	0.000000	0.31233	U	0.008019	T	0.62171	0.2406	M	0.72479	2.2	0.80722	D	1	D	0.71674	0.998	D	0.63488	0.915	T	0.68205	-0.5470	10	0.72032	D	0.01	.	17.0734	0.86580	0.0:0.0:1.0:0.0	.	1663	Q6V0I7	FAT4_HUMAN	M	1663	ENSP00000377862:V1663M	ENSP00000377862:V1663M	V	+	1	0	FAT4	126462003	1.000000	0.71417	0.892000	0.35008	0.406000	0.30931	9.392000	0.97252	2.263000	0.75096	0.650000	0.86243	GTG	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256765.2		+	ENST00000394329.3	Missense_Mutation	SNP	4 : 126242553 - 126242553 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	678	132
AP3M2	10947	broad.mit.edu	37	8	42024803	42024803	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42024803A>G	ENST00000518421.1	+	8	1216	c.925A>G	c.(925-927)Act>Gct	p.T309A	AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000174653.3_Missense_Mutation_p.T309A|AP3M2_ENST00000396926.3_Missense_Mutation_p.T309A	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	309	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			TGAGGGAGTGACTGTCACCAG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	107	111			NA	NA	8		NA											NA				42024803		2203	4300	6503	SO:0001583	missense			D38293	CCDS6125.1	8p11.2	2008-07-07			ENSG00000070718	ENSG00000070718	10947	10947			570	protein-coding gene	gene with protein product		610469			NA	7601449	Standard		NM_006803	NA	Approved	CLA20, AP47B	uc003xoo.3	P53677	OTTHUMG00000164060	ENST00000518421.1:c.925A>G	8.37:g.42024803A>G	ENSP00000428787:p.Thr309Ala	NA	B2RCR0|D3DSY2	37	CCDS6125.1	.	.	.	.	.	.	.	.	.	.	A	9.609	1.130808	0.21041	.	.	ENSG00000070718	ENST00000518421;ENST00000174653;ENST00000396926;ENST00000521280	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	5.2	4.01	0.46588	Clathrin adaptor, mu subunit, C-terminal (3);	0.516808	0.21762	N	0.069497	T	0.16342	0.0393	L	0.31926	0.97	0.27209	N	0.959965	B	0.02656	0.0	B	0.09377	0.004	T	0.13764	-1.0497	10	0.27785	T	0.31	0.0121	12.2915	0.54820	0.8585:0.1415:0.0:0.0	.	309	P53677	AP3M2_HUMAN	A	309;309;309;194	ENSP00000428787:T309A;ENSP00000174653:T309A;ENSP00000380132:T309A;ENSP00000430616:T194A	ENSP00000174653:T309A	T	+	1	0	AP3M2	42143960	0.998000	0.40836	0.612000	0.29024	0.571000	0.35966	3.360000	0.52299	0.770000	0.33336	0.533000	0.62120	ACT	AP3M2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376996.1		+	ENST00000518421.1	Missense_Mutation	SNP	8 : 42024803 - 42024803 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	343	58
MCM8	84515	broad.mit.edu	37	20	5933149	5933149	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5933149A>C	ENST00000378896.3	+	3	605	c.228A>C	c.(226-228)aaA>aaC	p.K76N	MCM8_ENST00000378886.2_Missense_Mutation_p.K76N|MCM8_ENST00000265187.4_Missense_Mutation_p.K76N|MCM8_ENST00000378883.1_Missense_Mutation_p.K76N	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	76					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TACCATATAAAGGCTGGAAGC	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	105	101			NA	NA	20		NA											NA				5933149		2203	4299	6502	SO:0001583	missense			AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885	84515	84515			16147	protein-coding gene	gene with protein product	REC homolog (Drosophila)	608187	chromosome 20 open reading frame 154	C20orf154	NA	12527764	Standard	NM_032485	NM_032485	NA	Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.228A>C	20.37:g.5933149A>C	ENSP00000368174:p.Lys76Asn	NA	B2RBG7|D3DW08|Q495R4|Q495R7|Q86US4|Q969I5	37	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	A	19.91	3.914769	0.72983	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000399350;ENST00000378886;ENST00000265187	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	6.07	2.69	0.31865	.	0.098121	0.64402	D	0.000002	T	0.35653	0.0939	M	0.75447	2.3	0.58432	D	0.999995	P;P;B;B	0.41597	0.677;0.756;0.338;0.251	B;B;B;B	0.38106	0.265;0.209;0.224;0.136	T	0.17930	-1.0353	10	0.52906	T	0.07	-16.8494	8.8479	0.35181	0.7028:0.0:0.2972:0.0	.	76;76;76;76	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	N	76	ENSP00000368174:K76N;ENSP00000368161:K76N;ENSP00000368164:K76N;ENSP00000265187:K76N	ENSP00000265187:K76N	K	+	3	2	MCM8	5881149	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.842000	0.48230	0.554000	0.29061	-0.250000	0.11733	AAA	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077900.1		+	ENST00000378896.3	Missense_Mutation	SNP	20 : 5933149 - 5933149 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	906	168
IAPP	3375	broad.mit.edu	37	12	21526313	21526313	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21526313C>A	ENST00000542023.1	+	2	129	c.28C>A	c.(28-30)Ctc>Atc	p.L10I	IAPP_ENST00000539393.1_Missense_Mutation_p.L10I|SLCO1A2_ENST00000537524.1_Intron|IAPP_ENST00000240652.3_Missense_Mutation_p.L10I|SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000307378.6_Intron			P10997	IAPP_HUMAN	islet amyloid polypeptide	10					apoptosis|cell-cell signaling|endocrine pancreas development|signal transduction	extracellular region|soluble fraction	hormone activity			lung(3)	3					Perindopril(DB00790)	GCAAGTATTTCTCATTGTGCT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	138	141			NA	NA	12		NA											NA				21526313		2203	4300	6503	SO:0001583	missense				CCDS8688.1	12p12.1	2013-02-25			ENSG00000121351	ENSG00000121351	3375	3375		Endogenous ligands	5329	protein-coding gene	gene with protein product	amylin	147940			NA		Standard	NM_000415	NM_000415	NA	Approved	AMYLIN, DAP, IAP	uc001rev.3	P10997	OTTHUMG00000169128	ENST00000542023.1:c.28C>A	12.37:g.21526313C>A	ENSP00000445711:p.Leu10Ile	NA	Q0ZD87|Q14598	37		.	.	.	.	.	.	.	.	.	.	C	11.19	1.567065	0.28003	.	.	ENSG00000121351	ENST00000539393;ENST00000240652;ENST00000542023;ENST00000537593	T;T;T	0.81330	-1.47;-1.47;-1.48	5.77	1.83	0.25207	.	0.321986	0.27802	N	0.017788	T	0.65228	0.2671	.	.	.	0.09310	N	1	P	0.37441	0.595	B	0.34931	0.192	T	0.57533	-0.7795	9	0.48119	T	0.1	-8.54	3.3808	0.07254	0.1873:0.4984:0.0:0.3143	.	10	P10997	IAPP_HUMAN	I	10	ENSP00000437357:L10I;ENSP00000240652:L10I;ENSP00000445980:L10I	ENSP00000240652:L10I	L	+	1	0	IAPP	21417580	0.443000	0.25641	0.002000	0.10522	0.009000	0.06853	0.956000	0.29202	0.747000	0.32809	0.655000	0.94253	CTC	IAPP-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000402357.1		+	ENST00000542023.1	Missense_Mutation	SNP	12 : 21526313 - 21526313 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	440	85
APLP2	334	broad.mit.edu	37	11	129993589	129993589	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:129993589C>T	ENST00000263574.5	+	7	1077	c.1005C>T	c.(1003-1005)tgC>tgT	p.C335C	APLP2_ENST00000338167.5_Silent_p.C335C|APLP2_ENST00000345598.5_Intron|APLP2_ENST00000278756.7_Silent_p.C345C|APLP2_ENST00000543137.1_Silent_p.C242C|APLP2_ENST00000528499.1_Intron|APLP2_ENST00000539648.1_Intron	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	335	BPTI/Kunitz inhibitor.				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		AGGGAAAGTGCGTGCGCTTTA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	123	125			NA	NA	11		NA											NA				129993589		2201	4297	6498	SO:0001819	synonymous_variant			L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234	334	334			598	protein-coding gene	gene with protein product		104776		APPL2	NA	10702673	Standard	NM_001642	NM_001642	NA	Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1005C>T	11.37:g.129993589C>T		NA	Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	37	CCDS8486.1																																																																																			APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386109.1		+	ENST00000263574.5	Silent	SNP	11 : 129993589 - 129993589 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	715	39
CCDC108	255101	broad.mit.edu	37	2	219870946	219870946	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219870946C>A	ENST00000341552.5	-	31	4803		c.e31-1		CCDC108_ENST00000453220.1_Splice_Site|CCDC108_ENST00000441968.1_Splice_Site|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	NA						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGGCAGTGTCTTTGGGAAGG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	58	56			NA	NA	2		NA											NA				219870946		2202	4300	6502	SO:0001630	splice_region_variant			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378	255101	255101			25325	protein-coding gene	gene with protein product		614270			NA	12477932	Standard	NM_194302	NM_194302	NA	Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.4720-1G>T	2.37:g.219870946C>A		NA	A2BDD8|Q6ZSR8|Q8NDJ3	37	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	13.50	2.255038	0.39896	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.862	0.79032	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC108	219579190	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	4.724000	0.61972	2.466000	0.83321	0.655000	0.94253	.	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256598.4	Intron	-	ENST00000341552.5	Splice_Site	SNP	2 : 219870946 - 219870946 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	485	76
AKAP9	10142	broad.mit.edu	37	7	91735055	91735055	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91735055A>G	ENST00000356239.3	+	47	11627	c.11394A>G	c.(11392-11394)agA>agG	p.R3798R	AKAP9_ENST00000359028.2_Silent_p.R3802R|AKAP9_ENST00000358100.2_Silent_p.R3748R	NM_005751.4|NM_147185.2	NP_005742.4|NP_671714.1	Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3802					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATATTAACAGAGATGGCTTTG	0.393		NA	T	BRAF	papillary thyroid									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													136	135	135			NA	NA	7		NA											NA				91735055		2203	4300	6503	SO:0001819	synonymous_variant			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914	10142	10142		A-kinase anchor proteins, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	379	protein-coding gene	gene with protein product	A-kinase anchoring protein 450, AKAP9-BRAF fusion protein, AKAP120-like protein, centrosome- and golgi-localized protein kinase N-associated protein, protein kinase A anchoring protein 9, A-kinase anchor protein, 350kDa, protein phosphatase 1, regulatory subunit 45, yotiao	604001			NA	9482789, 10390370, 24475373	Standard	NM_005751	NM_147185	NA	Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000356239.3:c.11394A>G	7.37:g.91735055A>G		NA	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	37	CCDS5622.1																																																																																			AKAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253808.2		+	ENST00000356239.3	Silent	SNP	7 : 91735055 - 91735055 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	550	56
SEL1L3	23231	broad.mit.edu	37	4	25806207	25806207	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25806207C>A	ENST00000399878.3	-	10	1854	c.1732G>T	c.(1732-1734)Gtc>Ttc	p.V578F	SEL1L3_ENST00000502949.1_Missense_Mutation_p.V425F|SEL1L3_ENST00000264868.5_Missense_Mutation_p.V543F	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	578						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TCATAAAAGACTGCAAGGTAG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	66	67			NA	NA	4		NA											NA				25806207		1922	4135	6057	SO:0001583	missense			BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490	23231	23231			29108	protein-coding gene	gene with protein product	KIAA0746 protein				NA	9872452	Standard	NM_015187	XM_005248143	NA	Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.1732G>T	4.37:g.25806207C>A	ENSP00000382767:p.Val578Phe	NA	A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	37	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141414	0.57044	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.55234	0.53;0.53;0.53	5.9	5.9	0.94986	Tetratricopeptide-like helical (1);	0.278006	0.40818	N	0.001003	T	0.71256	0.3318	M	0.64997	1.995	0.48762	D	0.999701	D	0.89917	1.0	D	0.83275	0.996	T	0.64466	-0.6401	10	0.29301	T	0.29	-31.0739	20.2822	0.98520	0.0:1.0:0.0:0.0	.	578	Q68CR1	SE1L3_HUMAN	F	578;543;425	ENSP00000382767:V578F;ENSP00000264868:V543F;ENSP00000425438:V425F	ENSP00000264868:V543F	V	-	1	0	SEL1L3	25415305	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	4.078000	0.57606	2.806000	0.96561	0.655000	0.94253	GTC	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360261.1		-	ENST00000399878.3	Missense_Mutation	SNP	4 : 25806207 - 25806207 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	112	15
TAS2R1	50834	broad.mit.edu	37	5	9629925	9629925	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:9629925C>A	ENST00000382492.2	-	1	538	c.220G>T	c.(220-222)Gaa>Taa	p.E74*	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	74					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						ATGATGAATTCTATGAAGAAG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	37	36			NA	NA	5		NA											NA				9629925		2203	4299	6502	SO:0001587	stop_gained			AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777	50834	50834		Taste receptors / Type 2, GPCR / Unclassified : Taste receptors	14909	protein-coding gene	gene with protein product		604796			NA	10761934, 10766242	Standard		NM_019599	NA	Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.220G>T	5.37:g.9629925C>A	ENSP00000371932:p.Glu74*	NA	Q646G8	37	CCDS3876.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524497	0.85600	.	.	ENSG00000169777	ENST00000382492	.	.	.	5.85	-0.66	0.11421	.	1.078920	0.07213	N	0.859590	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5745	0.22557	0.0:0.3077:0.1431:0.5492	.	.	.	.	X	74	.	.	E	-	1	0	TAS2R1	9682925	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.198000	0.09505	-0.171000	0.10797	-0.137000	0.14449	GAA	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206988.2		-	ENST00000382492.2	Nonsense_Mutation	SNP	5 : 9629925 - 9629925 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	248	40
CCDC74A	90557	broad.mit.edu	37	2	132290261	132290261	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132290261C>A	ENST00000295171.6	+	5	921	c.783C>A	c.(781-783)atC>atA	p.I261I	CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Silent_p.I195I	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	261										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CCCCAATGATCCTGCCCCTTC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	94	93			NA	NA	2		NA											NA				132290261		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040	90557	90557			25197	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_138770	NM_138770	NA	Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.783C>A	2.37:g.132290261C>A		NA	Q6P4I5	37	CCDS2167.1																																																																																			CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254570.2		+	ENST00000295171.6	Silent	SNP	2 : 132290261 - 132290261 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	989	85
EXOC3	11336	broad.mit.edu	37	5	453694	453694	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:453694T>C	ENST00000512944.1	+	4	763	c.574T>C	c.(574-576)Tgg>Cgg	p.W192R	EXOC3_ENST00000315013.5_Missense_Mutation_p.W192R	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	203					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TAAGCAGCTGTGGATGGTGCT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	80	79			NA	NA	5		NA											NA				453694		2056	4198	6254	SO:0001583	missense			BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104	11336	11336			30378	protein-coding gene	gene with protein product		608186	SEC6-like 1 (S. cerevisiae)	SEC6L1	NA	8619474	Standard	NM_007277	XM_005248238	NA	Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.574T>C	5.37:g.453694T>C	ENSP00000425587:p.Trp192Arg	NA	Q8TEN6|Q8WUW0|Q96DI4	37	CCDS54830.1	.	.	.	.	.	.	.	.	.	.	T	13.15	2.151108	0.38021	.	.	ENSG00000180104	ENST00000512944;ENST00000315013;ENST00000340158	T;T	0.06849	3.25;3.25	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.15003	0.0362	L	0.46885	1.475	0.80722	D	1	P	0.35481	0.504	P	0.47786	0.557	T	0.14117	-1.0484	10	0.19590	T	0.45	-21.2894	13.6941	0.62567	0.0:0.0:0.0:1.0	.	203	O60645	EXOC3_HUMAN	R	192;192;202	ENSP00000425587:W192R;ENSP00000323377:W192R	ENSP00000323377:W192R	W	+	1	0	EXOC3	506694	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.740000	0.84986	2.134000	0.65973	0.459000	0.35465	TGG	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367882.1		+	ENST00000512944.1	Missense_Mutation	SNP	5 : 453694 - 453694 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	376	67
CMTR2	55783	broad.mit.edu	37	16	71319453	71319453	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71319453C>A	ENST00000338099.5	-	3	707	c.371G>T	c.(370-372)aGc>aTc	p.S124I	CMTR2_ENST00000434935.2_Missense_Mutation_p.S124I					cap methyltransferase 2	124											NA						AAGTGGAAAGCTGCACAAAAT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	58	58			NA	NA	16		NA											NA				71319453		2198	4300	6498	SO:0001583	missense			BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917	55783	55783			25635	protein-coding gene	gene with protein product	adrift homolog (Drosophila)		FtsJ methyltransferase domain containing 1	FTSJD1	NA	21310715	Standard	NM_018348	NM_018348	NA	Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.371G>T	16.37:g.71319453C>A	ENSP00000337512:p.Ser124Ile	NA		37	CCDS10898.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.573462	0.28092	.	.	ENSG00000180917	ENST00000338099;ENST00000434935	T;T	0.30714	1.52;1.52	5.56	4.61	0.57282	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.258640	0.43416	D	0.000561	T	0.38799	0.1054	L	0.43152	1.355	0.40103	D	0.976396	D	0.55172	0.97	P	0.57846	0.828	T	0.14896	-1.0456	10	0.36615	T	0.2	-37.2314	9.7217	0.40306	0.0:0.8437:0.0:0.1563	.	124	Q8IYT2	FTSJ1_HUMAN	I	124	ENSP00000337512:S124I;ENSP00000411148:S124I	ENSP00000337512:S124I	S	-	2	0	FTSJD1	69876954	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	1.395000	0.34520	1.342000	0.45619	0.561000	0.74099	AGC	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268984.2		-	ENST00000338099.5	Missense_Mutation	SNP	16 : 71319453 - 71319453 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	413	86
MYCBP2	23077	broad.mit.edu	37	13	77635368	77635368	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77635368G>T	ENST00000544440.2	-	76	12875	c.12858C>A	c.(12856-12858)ttC>ttA	p.F4286L	MYCBP2_ENST00000357337.6_Missense_Mutation_p.F4286L|MYCBP2_ENST00000407578.2_Missense_Mutation_p.F4324L			O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCATCAACCAGAACAATTTGG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	122	129			NA	NA	13		NA											NA				77635368		2203	4300	6503	SO:0001583	missense			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810	23077	23077			23386	protein-coding gene	gene with protein product		610392	MYC binding protein 2		NA	9689053, 15057823	Standard	NM_015057	NM_015057	NA	Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.12858C>A	13.37:g.77635368G>T	ENSP00000444596:p.Phe4286Leu	NA	A6NJC6|Q5JSX8|Q5VZN6|Q6PIB6|Q9UQ11|Q9Y6E4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.73|17.73	3.461572|3.461572	0.63513|0.63513	.|.	.|.	ENSG00000005810|ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440|ENST00000429715	T;T;T|.	0.29397|.	1.57;1.57;1.57|.	6.17|6.17	4.44|4.44	0.53790|0.53790	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59142|0.59142	0.2172|0.2172	L|L	0.52573|0.52573	1.65|1.65	0.58432|0.58432	D|D	0.999994|0.999994	P|.	0.49447|.	0.924|.	P|.	0.60682|.	0.878|.	T|T	0.54957|0.54957	-0.8215|-0.8215	10|5	0.87932|.	D|.	0|.	.|.	10.2374|10.2374	0.43290|0.43290	0.2053:0.0:0.7947:0.0|0.2053:0.0:0.7947:0.0	.|.	4286|.	O75592|.	MYCB2_HUMAN|.	L|M	4286;4324;4286|707	ENSP00000349892:F4286L;ENSP00000384288:F4324L;ENSP00000444596:F4286L|.	ENSP00000349892:F4286L|.	F|L	-|-	3|1	2|2	MYCBP2|MYCBP2	76533369|76533369	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.666000|2.666000	0.46799|0.46799	0.923000|0.923000	0.37045|0.37045	0.655000|0.655000	0.94253|0.94253	TTC|CTG	MYCBP2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000045326.1		-	ENST00000544440.2	Missense_Mutation	SNP	13 : 77635368 - 77635368 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	372	56
RP11-108K14.8	0	broad.mit.edu	37	10	135211958	135211958	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135211958A>C	ENST00000468317.2	+	5	572	c.317A>C	c.(316-318)gAa>gCa	p.E106A	MTG1_ENST00000477902.2_Missense_Mutation_p.E60A|MTG1_ENST00000317502.6_Missense_Mutation_p.E101A						NA											NA						CAACACTTAGAAGGAGAAGGC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	107	108			NA	NA	10		NA											NA				135211958		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000468317.2:c.317A>C	10.37:g.135211958A>C	ENSP00000436767:p.Glu106Ala	NA		37		.	.	.	.	.	.	.	.	.	.	a	11.36	1.614812	0.28712	.	.	ENSG00000254536;ENSG00000148824;ENSG00000148824;ENSG00000148824	ENST00000468317;ENST00000317502;ENST00000432508;ENST00000537620	T;T;T	0.14144	2.53;2.53;2.53	4.91	3.75	0.43078	.	2.760420	0.01439	N	0.015030	T	0.15478	0.0373	L	0.35249	1.045	0.20703	N	0.999862	B;B	0.22604	0.072;0.04	B;B	0.26614	0.071;0.015	T	0.34378	-0.9831	10	0.34782	T	0.22	-10.5334	9.9324	0.41530	0.8282:0.1718:0.0:0.0	.	101;101	E7EVK2;Q9BT17	.;MTG1_HUMAN	A	106;101;101;60	ENSP00000436767:E106A;ENSP00000323047:E101A;ENSP00000393480:E101A	ENSP00000323047:E101A	E	+	2	0	AL360181.1;MTG1	135061948	1.000000	0.71417	0.907000	0.35723	0.892000	0.51952	3.316000	0.51960	0.699000	0.31761	0.445000	0.29226	GAA	RP11-108K14.8-001	PUTATIVE	non_canonical_U12|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000390432.1		+	ENST00000468317.2	Missense_Mutation	SNP	10 : 135211958 - 135211958 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	587	111
ZNF639	51193	broad.mit.edu	37	3	179051598	179051598	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179051598C>T	ENST00000326361.3	+	7	1291	c.846C>T	c.(844-846)acC>acT	p.T282T	ZNF639_ENST00000484866.1_Silent_p.T282T|ZNF639_ENST00000496856.1_Silent_p.T282T	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	282					initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TTGCAGACACCCATTTTAGTG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	125	127			NA	NA	3		NA											NA				179051598		2203	4300	6503	SO:0001819	synonymous_variant			BC020500	CCDS3227.1	3q27.1	2010-03-26			ENSG00000121864	ENSG00000121864	51193	51193		Zinc fingers, C2H2-type	30950	protein-coding gene	gene with protein product	zinc finger amplified in esophageal squamous cell carcinomas 1				NA	14522885	Standard	NM_016331	NM_016331	NA	Approved	ANC-2H01, ZASC1	uc003fjr.1	Q9UID6	OTTHUMG00000157439	ENST00000326361.3:c.846C>T	3.37:g.179051598C>T		NA	A9X3Z9|D3DNR3	37	CCDS3227.1																																																																																			ZNF639-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348855.1		+	ENST00000326361.3	Silent	SNP	3 : 179051598 - 179051598 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	535	75
TCF20	6942	broad.mit.edu	37	22	42609754	42609754	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42609754C>A	ENST00000359486.3	-	1	1694	c.1558G>T	c.(1558-1560)Gat>Tat	p.D520Y	TCF20_ENST00000335626.4_Missense_Mutation_p.D520Y	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	520					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CAGCCTCCATCTAATGACTCT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	164	161			NA	NA	22		NA											NA				42609754		2203	4300	6503	SO:0001583	missense			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207	6942	6942			11631	protein-coding gene	gene with protein product	stromelysin-1 platelet-derived growth factor-responsive element binding protein	603107			NA	9730594, 10995766	Standard	NM_181492	NM_005650	NA	Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.1558G>T	22.37:g.42609754C>A	ENSP00000352463:p.Asp520Tyr	NA	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	37	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.573944	0.45902	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.35236	1.32;1.32	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.50480	0.1618	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.986	T	0.50825	-0.8782	10	0.87932	D	0	-22.0814	20.8794	0.99867	0.0:1.0:0.0:0.0	.	520;520	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	Y	520	ENSP00000352463:D520Y;ENSP00000335561:D520Y	ENSP00000335561:D520Y	D	-	1	0	TCF20	40939698	1.000000	0.71417	0.957000	0.39632	0.560000	0.35617	2.209000	0.42806	2.941000	0.99782	0.655000	0.94253	GAT	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320531.1		-	ENST00000359486.3	Missense_Mutation	SNP	22 : 42609754 - 42609754 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1473	288
CD93	22918	broad.mit.edu	37	20	23066450	23066450	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23066450T>C	ENST00000246006.4	-	1	527	c.380A>G	c.(379-381)aAc>aGc	p.N127S		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	127	C-type lectin.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CTTGTGCCAGTTAGAGTAAGG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	27	26			NA	NA	20		NA											NA				23066450		2202	4298	6500	SO:0001583	missense			U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810	22918	22918		CD molecules	15855	protein-coding gene	gene with protein product		120577	matrix-remodelling associated 4, complement component 1, q subcomponent, receptor 1, CD93 antigen	MXRA4, C1QR1	NA	9047234, 10648005	Standard	NM_012072	NM_012072	NA	Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.380A>G	20.37:g.23066450T>C	ENSP00000246006:p.Asn127Ser	NA	O00274	37	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	T	18.32	3.598365	0.66332	.	.	ENSG00000125810	ENST00000246006;ENST00000413585	T	0.20463	2.07	5.49	5.49	0.81192	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.184763	0.37857	N	0.001901	T	0.42517	0.1206	M	0.64080	1.96	0.42882	D	0.994172	D	0.89917	1.0	D	0.76071	0.987	T	0.34179	-0.9839	10	0.66056	D	0.02	-56.0508	12.2766	0.54739	0.0:0.0:0.1411:0.8589	.	127	Q9NPY3	C1QR1_HUMAN	S	127	ENSP00000246006:N127S	ENSP00000246006:N127S	N	-	2	0	CD93	23014450	1.000000	0.71417	0.994000	0.49952	0.702000	0.40608	1.684000	0.37649	2.194000	0.70268	0.533000	0.62120	AAC	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078312.2		-	ENST00000246006.4	Missense_Mutation	SNP	20 : 23066450 - 23066450 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	121	19
DSCAML1	57453	broad.mit.edu	37	11	117302397	117302397	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117302397G>A	ENST00000321322.6	-	31	5408	c.5407C>T	c.(5407-5409)Cgg>Tgg	p.R1803W	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R1533W	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1743					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTTGAGTACCGGTTCCGGGTG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	138	141			NA	NA	11		NA											NA				117302397		2201	4296	6497	SO:0001583	missense				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103	57453	57453		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	14656	protein-coding gene	gene with protein product		611782			NA	11453658	Standard	NM_020693	NM_020693	NA	Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.5407C>T	11.37:g.117302397G>A	ENSP00000315465:p.Arg1803Trp	NA	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	37	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675749	0.67928	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.66099	-0.15;-0.19	4.82	4.82	0.62117	.	.	.	.	.	T	0.65365	0.2684	N	0.24115	0.695	0.58432	D	0.99999	D	0.76494	0.999	D	0.71184	0.972	T	0.68659	-0.5350	9	0.87932	D	0	.	11.7516	0.51852	0.0:0.0:0.7044:0.2956	.	1743	Q8TD84	DSCL1_HUMAN	W	1533;1803;1510	ENSP00000434335:R1533W;ENSP00000315465:R1803W	ENSP00000315465:R1803W	R	-	1	2	DSCAML1	116807607	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.224000	0.42945	2.499000	0.84300	0.561000	0.74099	CGG	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392907.2		-	ENST00000321322.6	Missense_Mutation	SNP	11 : 117302397 - 117302397 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	736	52
ALPP	250	broad.mit.edu	37	2	233244473	233244473	+	Splice_Site	SNP	G	G	T	rs1130343		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233244473G>T	ENST00000392027.2	+	5	753		c.e5-1		AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	NA						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GACACCCTTAGGGAAGTCAGT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	55	55			NA	NA	2		NA											NA				233244473		2203	4300	6503	SO:0001630	splice_region_variant			M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	250	250	3.1.3.1		439	protein-coding gene	gene with protein product	Regan isozyme	171800	alkaline phosphatase, placental (Regan isozyme)		NA	3001717, 3461452	Standard	NM_001632	XM_005246439	NA	Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.485-1G>T	2.37:g.233244473G>T		NA	P05188|P06861|Q53S78|Q96DB7	37	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	G	9.157	1.017697	0.19355	.	.	ENSG00000163283	ENST00000392027	.	.	.	2.31	2.31	0.28768	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9891	0.58608	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ALPP	232952717	1.000000	0.71417	0.871000	0.34182	0.139000	0.21198	5.970000	0.70431	1.289000	0.44618	0.298000	0.19748	.	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257032.3	Intron	+	ENST00000392027.2	Splice_Site	SNP	2 : 233244473 - 233244473 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	248	61
BTNL3	10917	broad.mit.edu	37	5	180424256	180424256	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180424256C>T	ENST00000342868.6	+	3	625	c.441C>T	c.(439-441)gaC>gaT	p.D147D		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	147	Ig-like V-type.				lipid metabolic process	integral to membrane		p.D147E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			GATATGTTGACGGAGGTATCC	0.498		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)											139	121	127			NA	NA	5		NA											NA				180424256		2133	3964	6097	SO:0001819	synonymous_variant			AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903	10917	10917		Immunoglobulin superfamily / V-set domain containing, Butyrophilins	1143	protein-coding gene	gene with protein product	butyrophilin-like receptor	606192			NA	10429365	Standard	NM_197975	NM_197975	NA	Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.441C>T	5.37:g.180424256C>T		NA	Q496L7|Q9Y2C7	37	CCDS47358.1																																																																																			BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367176.2		+	ENST00000342868.6	Silent	SNP	5 : 180424256 - 180424256 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	706	24
OR52B4	143496	broad.mit.edu	37	11	4389036	4389036	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4389036G>T	ENST00000408920.2	-	1	580	c.490C>A	c.(490-492)Ctt>Att	p.L164I		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTTTTAAAAGAAATATGATA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	61	62			NA	NA	11		NA											NA				4389036		1822	4076	5898	SO:0001583	missense			AB065792	CCDS41609.1	11p15.4	2012-08-09			ENSG00000221996	ENSG00000221996	143496	143496		GPCR / Class A : Olfactory receptors	15209	protein-coding gene	gene with protein product					NA		Standard	NM_001005161	NM_001005161	NA	Approved		uc010qye.2	Q8NGK2	OTTHUMG00000154222	ENST00000408920.2:c.490C>A	11.37:g.4389036G>T	ENSP00000386160:p.Leu164Ile	NA	A6NP68|Q6IFK6	37	CCDS41609.1	.	.	.	.	.	.	.	.	.	.	G	9.984	1.228910	0.22542	.	.	ENSG00000221996	ENST00000408920	T	0.00099	8.73	5.29	1.18	0.20946	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000260	T	0.00412	0.0013	M	0.89601	3.045	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.47381	-0.9122	10	0.87932	D	0	.	2.8409	0.05528	0.2182:0.1229:0.5331:0.1258	.	164	Q8NGK2	O52B4_HUMAN	I	164	ENSP00000386160:L164I	ENSP00000386160:L164I	L	-	1	0	OR52B4	4345612	0.017000	0.18338	0.330000	0.25442	0.003000	0.03518	0.641000	0.24720	0.390000	0.25115	-0.140000	0.14226	CTT	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334449.3		-	ENST00000408920.2	Missense_Mutation	SNP	11 : 4389036 - 4389036 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	460	79
KMT2D	8085	broad.mit.edu	37	12	49420094	49420094	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49420094G>T	ENST00000301067.7	-	48	15654	c.15655C>A	c.(15655-15657)Ctc>Atc	p.L5219I		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D	NA											NA						TTGGTGCGGAGGCTCCAATAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	58	57			NA	NA	12		NA											NA				49420094		2065	4199	6264	SO:0001583	missense			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.15655C>A	12.37:g.49420094G>T	ENSP00000301067:p.Leu5219Ile	NA		37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566172	0.27915	.	.	ENSG00000167548	ENST00000301067	T	0.76839	-1.05	5.12	3.2	0.36748	FY-rich, N-terminal (1);FY-rich, N-terminal subgroup (1);	0.000000	0.33180	N	0.005184	T	0.62146	0.2404	N	0.11560	0.145	0.25193	N	0.99012	P	0.49559	0.925	P	0.48270	0.572	T	0.56703	-0.7935	10	0.87932	D	0	.	5.1841	0.15174	0.1356:0.0:0.5375:0.327	.	5219	O14686	MLL2_HUMAN	I	5219	ENSP00000301067:L5219I	ENSP00000301067:L5219I	L	-	1	0	MLL2	47706361	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.914000	0.39966	1.254000	0.44035	0.655000	0.94253	CTC	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390183.2		-	ENST00000301067.7	Missense_Mutation	SNP	12 : 49420094 - 49420094 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	55
RETNLB	84666	broad.mit.edu	37	3	108474750	108474750	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108474750T>C	ENST00000295755.6	-	3	409	c.211A>G	c.(211-213)Atg>Gtg	p.M71V	RETNLB_ENST00000482939.1_Intron	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	71					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						GTGACAGCCATCCCTGCATGA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	86	88			NA	NA	3		NA											NA				108474750		2203	4300	6503	SO:0001583	missense			AF290873	CCDS2953.1	3q13.1	2008-02-05			ENSG00000163515	ENSG00000163515	84666	84666			20388	protein-coding gene	gene with protein product		605645			NA	10921885, 12574343	Standard		NM_032579	NA	Approved	HXCP2, FIZZ2, RELMb	uc003dxh.2	Q9BQ08	OTTHUMG00000159393	ENST00000295755.6:c.211A>G	3.37:g.108474750T>C	ENSP00000295755:p.Met71Val	NA	Q14D27	37	CCDS2953.1	.	.	.	.	.	.	.	.	.	.	T	7.784	0.710092	0.15239	.	.	ENSG00000163515	ENST00000295755	T	0.41758	0.99	3.7	0.923	0.19413	.	1.356200	0.05180	N	0.501095	T	0.37598	0.1009	L	0.43923	1.385	0.09310	N	1	B	0.25441	0.126	B	0.28916	0.096	T	0.40156	-0.9578	10	0.52906	T	0.07	-1.0885	7.1581	0.25649	0.3937:0.0:0.0:0.6063	.	71	Q9BQ08	RETNB_HUMAN	V	71	ENSP00000295755:M71V	ENSP00000295755:M71V	M	-	1	0	RETNLB	109957440	0.000000	0.05858	0.002000	0.10522	0.107000	0.19398	0.404000	0.20999	0.475000	0.27415	0.459000	0.35465	ATG	RETNLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355093.1		-	ENST00000295755.6	Missense_Mutation	SNP	3 : 108474750 - 108474750 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	13
H6PD	9563	broad.mit.edu	37	1	9324603	9324603	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9324603G>T	ENST00000377403.2	+	5	2353	c.2051G>T	c.(2050-2052)aGc>aTc	p.S684I	H6PD_ENST00000602477.1_Missense_Mutation_p.S695I	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	684	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	GTGGCCAACAGCAGCTTCGAC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	57	57			NA	NA	1		NA											NA				9324603		2203	4299	6502	SO:0001583	missense			AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	9563	9563	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	glucose dehyrogenase	GDH	NA	10349511	Standard	NM_004285	NM_001282587	NA	Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.2051G>T	1.37:g.9324603G>T	ENSP00000366620:p.Ser684Ile	NA	Q4TT33|Q66I35|Q68DT3	37	CCDS101.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533434	0.45073	.	.	ENSG00000049239	ENST00000377403	T	0.45668	0.89	5.72	3.75	0.43078	Glucosamine/galactosamine-6-phosphate isomerase (1);6-phosphogluconolactonase, DevB-type (1);	0.290238	0.43579	D	0.000548	T	0.33585	0.0868	L	0.39692	1.235	0.53688	D	0.999978	B	0.28128	0.201	B	0.35182	0.197	T	0.29882	-0.9997	10	0.72032	D	0.01	-21.6768	4.5196	0.11952	0.0826:0.2441:0.541:0.1322	.	684	O95479	G6PE_HUMAN	I	684	ENSP00000366620:S684I	ENSP00000366620:S684I	S	+	2	0	H6PD	9247190	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.360000	0.59455	1.432000	0.47375	-0.258000	0.10820	AGC	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000004928.2		+	ENST00000377403.2	Missense_Mutation	SNP	1 : 9324603 - 9324603 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	559	82
HUS1B	135458	broad.mit.edu	37	6	656306	656306	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:656306C>T	ENST00000380907.2	-	1	657	c.639G>A	c.(637-639)tcG>tcA	p.S213S	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	213										endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		CACCCACAGCCGACTGGGGAG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	130	126			NA	NA	6		NA											NA				656306		2203	4300	6503	SO:0001819	synonymous_variant			AF508547	CCDS4470.1	6p25.3	2008-08-08	2001-11-28		ENSG00000188996	ENSG00000188996	135458	135458			16485	protein-coding gene	gene with protein product		609713	HUS1 (S. pombe) checkpoint homolog b		NA	11944979	Standard	NM_148959	NM_148959	NA	Approved		uc003mtg.3	Q8NHY5	OTTHUMG00000090059	ENST00000380907.2:c.639G>A	6.37:g.656306C>T		NA	Q5T4Z2	37	CCDS4470.1																																																																																			HUS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000205617.2		-	ENST00000380907.2	Silent	SNP	6 : 656306 - 656306 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1033	196
ARHGEF17	9828	broad.mit.edu	37	11	73020891	73020891	+	Missense_Mutation	SNP	A	A	T	rs149459553		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73020891A>T	ENST00000263674.3	+	1	1558	c.1208A>T	c.(1207-1209)gAc>gTc	p.D403V		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	403					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						AAGGACGACGACCTATGGTCT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237	9828	9828		Rho guanine nucleotide exchange factors	21726	protein-coding gene	gene with protein product	Rho-specific guanine-nucleotide exchange factor 164 kDa, tumor endothelial marker 4				NA	11559528, 12071859	Standard	NM_014786	NM_014786	NA	Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.1208A>T	11.37:g.73020891A>T	ENSP00000263674:p.Asp403Val	NA	B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	37	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	A	14.57	2.574003	0.45902	.	.	ENSG00000110237	ENST00000263674	T	0.67171	-0.25	4.32	4.32	0.51571	.	0.163752	0.29246	N	0.012717	T	0.59018	0.2163	L	0.27053	0.805	0.58432	D	0.999999	P	0.41748	0.761	P	0.46585	0.521	T	0.63651	-0.6589	10	0.87932	D	0	-12.0854	9.8212	0.40883	1.0:0.0:0.0:0.0	.	403	Q96PE2	ARHGH_HUMAN	V	403	ENSP00000263674:D403V	ENSP00000263674:D403V	D	+	2	0	ARHGEF17	72698539	1.000000	0.71417	0.912000	0.35992	0.766000	0.43426	6.063000	0.71162	1.821000	0.53095	0.379000	0.24179	GAC	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397365.1		+	ENST00000263674.3	Missense_Mutation	SNP	11 : 73020891 - 73020891 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	290	65
WIPI2	26100	broad.mit.edu	37	7	5269261	5269261	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5269261A>G	ENST00000288828.4	+	12	1376	c.1144A>G	c.(1144-1146)Acc>Gcc	p.T382A	WIPI2_ENST00000404704.3_Missense_Mutation_p.T382A|WIPI2_ENST00000382384.2_Missense_Mutation_p.T364A|WIPI2_ENST00000484262.1_Missense_Mutation_p.T323A|WIPI2_ENST00000401525.3_Missense_Mutation_p.T364A	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	382					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		TCTGGAAACGACCAATGAGAT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	66	78			NA	NA	7		NA											NA				5269261		2203	4300	6503	SO:0001583	missense				CCDS5339.1, CCDS34593.1, CCDS47531.1, CCDS47532.1, CCDS47533.1	7p22.1	2014-02-12			ENSG00000157954	ENSG00000157954	26100	26100		WD repeat domain containing	32225	protein-coding gene	gene with protein product		609225			NA	15602573	Standard	NM_015610	NM_001278299	NA	Approved	Atg21, CGI-50, FLJ12979, FLJ14217, FLJ42984, DKFZP434J154, DKFZp686P02188, ATG18B	uc003snv.3	Q9Y4P8	OTTHUMG00000121179	ENST00000288828.4:c.1144A>G	7.37:g.5269261A>G	ENSP00000288828:p.Thr382Ala	NA	B3KNC2|Q5MNZ8|Q6FI96|Q75L50|Q96IE4|Q9Y364	37	CCDS5339.1	.	.	.	.	.	.	.	.	.	.	A	1.403	-0.577680	0.03854	.	.	ENSG00000157954	ENST00000288828;ENST00000401525;ENST00000404704;ENST00000382384;ENST00000484262;ENST00000315176	T;T;T;T;T	0.41400	1.31;1.31;1.33;1.33;1.0	5.77	1.33	0.21861	.	0.520851	0.21249	N	0.077680	T	0.15998	0.0385	N	0.04508	-0.205	0.21290	N	0.99974	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.001;0.001;0.0	T	0.28586	-1.0039	10	0.09843	T	0.71	-20.5692	7.0495	0.25065	0.5558:0.0:0.4442:0.0	.	376;364;364;382;382	E7EVF6;Q9Y4P8-2;Q9Y4P8-4;Q9Y4P8-6;Q9Y4P8	.;.;.;.;WIPI2_HUMAN	A	382;364;382;364;323;376	ENSP00000288828:T382A;ENSP00000384945:T364A;ENSP00000385297:T382A;ENSP00000371821:T364A;ENSP00000429654:T323A	ENSP00000288828:T382A	T	+	1	0	WIPI2	5235787	0.921000	0.31238	0.110000	0.21437	0.095000	0.18619	1.468000	0.35332	-0.074000	0.12820	-0.232000	0.12228	ACC	WIPI2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000241669.2		+	ENST00000288828.4	Missense_Mutation	SNP	7 : 5269261 - 5269261 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	128	22
RABGAP1	23637	broad.mit.edu	37	9	125746835	125746835	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125746835C>T	ENST00000373647.4	+	3	356	c.222C>T	c.(220-222)gaC>gaT	p.D74D		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	74					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						CTCCAATGGACGACCAGCCAG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	89	95			NA	NA	9		NA											NA				125746835		2203	4300	6503	SO:0001819	synonymous_variant			AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454	23637	23637			17155	protein-coding gene	gene with protein product	rab6 GTPase activating protein (GAP and centrosome-associated), TBC1 domain family, member 11	615882			NA	10202141	Standard	NM_012197	NM_012197	NA	Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.222C>T	9.37:g.125746835C>T		NA	Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	37	CCDS6848.2																																																																																			RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053976.3		+	ENST00000373647.4	Silent	SNP	9 : 125746835 - 125746835 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	32
ZNF41	7592	broad.mit.edu	37	X	47307946	47307946	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47307946T>G	ENST00000377065.4	-	5	1862	c.1223A>C	c.(1222-1224)gAg>gCg	p.E408A	ZNF41_ENST00000397050.2_Missense_Mutation_p.E418A|ZNF41_ENST00000313116.7_Missense_Mutation_p.E408A	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	450						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				ATAGTGTTTCTCTCCGGTATG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	90	93			NA	NA	X		NA											NA				47307946		2203	4300	6503	SO:0001583	missense			X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124	7592	7592		Zinc fingers, C2H2-type, -	13107	protein-coding gene	gene with protein product		314995			NA	2037297	Standard	NM_153380	NM_007130	NA	Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.1223A>C	X.37:g.47307946T>G	ENSP00000366265:p.Glu408Ala	NA	A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	37	CCDS14279.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.885366	0.51908	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	T;T;T	0.27557	1.66;1.66;1.66	3.57	3.57	0.40892	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35772	N	0.003000	T	0.51466	0.1676	M	0.73598	2.24	0.29448	N	0.858655	D;D;P;D;D	0.76494	0.999;0.999;0.46;0.999;0.999	D;D;B;D;D	0.77004	0.973;0.973;0.301;0.98;0.989	T	0.50651	-0.8803	10	0.87932	D	0	.	9.7253	0.40328	0.0:0.0:0.0:1.0	.	408;410;418;442;450	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	A	408;408;418	ENSP00000315173:E408A;ENSP00000366265:E408A;ENSP00000380243:E418A	ENSP00000315173:E408A	E	-	2	0	ZNF41	47192890	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.118000	0.64673	1.652000	0.50683	0.481000	0.45027	GAG	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056429.1		-	ENST00000377065.4	Missense_Mutation	SNP	X : 47307946 - 47307946 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	465	128
UGDH	7358	broad.mit.edu	37	4	39523021	39523021	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39523021T>C	ENST00000316423.6	-	2	454	c.112A>G	c.(112-114)Aat>Gat	p.N38D	UGDH_ENST00000501493.2_Missense_Mutation_p.N38D|UGDH_ENST00000507089.1_Intron|UGDH_ENST00000515398.1_Intron|UGDH_ENST00000506179.1_Missense_Mutation_p.N38D	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	38					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	CTTGATTCATTGACATCAACA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	142	148			NA	NA	4		NA											NA				39523021		2203	4300	6503	SO:0001583	missense			AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	7358	7358	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	UDP-glucose dehydrogenase		NA	9737970, 10575217	Standard	NM_003359	NM_003359	NA	Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.112A>G	4.37:g.39523021T>C	ENSP00000319501:p.Asn38Asp	NA	O60589	37	CCDS3455.1	.	.	.	.	.	.	.	.	.	.	T	18.51	3.639124	0.67244	.	.	ENSG00000109814	ENST00000316423;ENST00000501493;ENST00000506179;ENST00000515021;ENST00000514106;ENST00000509391;ENST00000505698;ENST00000510490	T;T;T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	6.07	6.07	0.98685	UDP-glucose/GDP-mannose dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.62183	0.2407	N	0.11284	0.12	0.80722	D	1	B;B	0.14012	0.009;0.001	B;B	0.15052	0.012;0.003	T	0.57894	-0.7732	10	0.25106	T	0.35	-3.6669	15.8218	0.78654	0.0:0.0:0.0:1.0	.	38;38	B3KUU2;O60701	.;UGDH_HUMAN	D	38;38;38;51;38;38;38;38	ENSP00000319501:N38D;ENSP00000422909:N38D;ENSP00000421757:N38D;ENSP00000421954:N51D;ENSP00000425834:N38D;ENSP00000422603:N38D;ENSP00000422565:N38D;ENSP00000427708:N38D	ENSP00000319501:N38D	N	-	1	0	UGDH	39199416	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.665000	0.83852	2.326000	0.78906	0.533000	0.62120	AAT	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216818.3		-	ENST00000316423.6	Missense_Mutation	SNP	4 : 39523021 - 39523021 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	584	114
PTPRU	10076	broad.mit.edu	37	1	29610474	29610474	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29610474G>A	ENST00000373779.3	+	13	2294	c.2165G>A	c.(2164-2166)cGc>cAc	p.R722H	PTPRU_ENST00000345512.3_Missense_Mutation_p.R722H|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000323874.8_Missense_Mutation_p.R722H|PTPRU_ENST00000428026.2_Missense_Mutation_p.R722H|PTPRU_ENST00000356870.3_Missense_Mutation_p.R722H|PTPRU_ENST00000460170.2_Missense_Mutation_p.R722H	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	722					canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		AATTGCATCCGCATTGCCAGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	109	109			NA	NA	1		NA											NA				29610474		2203	4300	6503	SO:0001583	missense			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656	10076	10076		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing	9683	protein-coding gene	gene with protein product	pi R-PTP-Psi	602454			NA	8700514, 9434160	Standard		NM_133178	NA	Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000373779.3:c.2165G>A	1.37:g.29610474G>A	ENSP00000362884:p.Arg722His	NA	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	37	CCDS335.1	.	.	.	.	.	.	.	.	.	.	G	35	5.545457	0.96488	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.36878	1.23;1.34;1.34;1.34;1.28;1.34	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.64091	0.2567	M	0.81802	2.56	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.998;0.998	T	0.65541	-0.6143	9	.	.	.	.	18.351	0.90338	0.0:0.0:1.0:0.0	.	722;722;722;722;722	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	H	722	ENSP00000334941:R722H;ENSP00000362884:R722H;ENSP00000349333:R722H;ENSP00000314987:R722H;ENSP00000392332:R722H;ENSP00000432906:R722H	.	R	+	2	0	PTPRU	29483061	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.022000	0.93678	2.577000	0.86979	0.549000	0.68633	CGC	PTPRU-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000010445.2		+	ENST00000373779.3	Missense_Mutation	SNP	1 : 29610474 - 29610474 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	823	102
NKD1	85407	broad.mit.edu	37	16	50583467	50583467	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50583467G>A	ENST00000268459.3	+	3	416		c.e3+1		NKD1_ENST00000564336.1_Splice_Site	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	NA					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AAGCACCCGGGTATGATTCCC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	19	18			NA	NA	16		NA											NA				50583467		2196	4299	6495	SO:0001630	splice_region_variant			AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807	85407	85407		EF-hand domain containing	17045	protein-coding gene	gene with protein product		607851			NA	11356022	Standard		NM_033119	NA	Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.192+1G>A	16.37:g.50583467G>A		NA	B2RC39|Q8WZ08	37	CCDS10743.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924349	0.52653	.	.	ENSG00000140807	ENST00000268459	.	.	.	4.04	4.04	0.47022	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3982	0.60868	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NKD1	49140968	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	4.869000	0.63028	2.263000	0.75096	0.313000	0.20887	.	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256873.1	Intron	+	ENST00000268459.3	Splice_Site	SNP	16 : 50583467 - 50583467 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	107	16
DNAJA1	3301	broad.mit.edu	37	9	33034281	33034281	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33034281C>T	ENST00000330899.4	+	6	894	c.711C>T	c.(709-711)ggC>ggT	p.G237G	DNAJA1_ENST00000495015.1_3'UTR|DNAJA1_ENST00000544625.1_Silent_p.G80G	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	237					protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		TGGAGCCAGGCGATATTATCA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	79	81			NA	NA	9		NA											NA				33034281		2203	4300	6503	SO:0001819	synonymous_variant			L08069	CCDS6533.1	9p13.3	2011-09-02			ENSG00000086061	ENSG00000086061	3301	3301		Heat shock proteins / DNAJ (HSP40)	5229	protein-coding gene	gene with protein product	neural precursor cell expressed, developmentally down-regulated 7	602837		HSJ2	NA	8334160, 11147971	Standard		NM_001539	NA	Approved	HSPF4, hdj-2, dj-2, NEDD7	uc003zsd.1	P31689	OTTHUMG00000019760	ENST00000330899.4:c.711C>T	9.37:g.33034281C>T		NA		37	CCDS6533.1																																																																																			DNAJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052031.1		+	ENST00000330899.4	Silent	SNP	9 : 33034281 - 33034281 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	203	16
PACSIN1	29993	broad.mit.edu	37	6	34499506	34499506	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34499506C>T	ENST00000538621.1	+	9	1412	c.1167C>T	c.(1165-1167)cgC>cgT	p.R389R	PACSIN1_ENST00000374043.2_Silent_p.R347R|PACSIN1_ENST00000244458.2_Silent_p.R389R	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	389	SH3.				endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						AGGGAGTGCGCGTGCGGGCAC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	96	94			NA	NA	6		NA											NA				34499506		2203	4300	6503	SO:0001819	synonymous_variant			AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507	NA	29993			8570	protein-coding gene	gene with protein product	syndapin I	606512			NA	11179684	Standard		NM_020804	NA	Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.1167C>T	6.37:g.34499506C>T		NA	Q9P2G8	37	CCDS4793.1																																																																																			PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040236.1		+	ENST00000538621.1	Silent	SNP	6 : 34499506 - 34499506 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1270	234
DCAF4L2	138009	broad.mit.edu	37	8	88885789	88885789	+	Missense_Mutation	SNP	G	G	T	rs118036816		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:88885789G>T	ENST00000319675.3	-	1	507	c.411C>A	c.(409-411)caC>caA	p.H137Q		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	137										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGGAATCCAAGTGATTCAGTG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	98	100			NA	NA	8		NA											NA				88885789		2203	4300	6503	SO:0001583	missense			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566	138009	138009		WD repeat domain containing	26657	protein-coding gene	gene with protein product			WD repeat domain 21C	WDR21C	NA	14702039	Standard	NM_152418	NM_152418	NA	Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.411C>A	8.37:g.88885789G>T	ENSP00000316496:p.His137Gln	NA		37	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	G	7.186	0.590654	0.13812	.	.	ENSG00000176566	ENST00000319675	T	0.69306	-0.39	1.39	-2.28	0.06826	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.154096	0.64402	D	0.000012	T	0.46814	0.1412	L	0.39397	1.21	0.33377	D	0.574384	B	0.20671	0.047	B	0.18561	0.022	T	0.34502	-0.9826	10	0.17832	T	0.49	.	6.4598	0.21950	0.4841:0.0:0.5159:0.0	.	137	Q8NA75	DC4L2_HUMAN	Q	137	ENSP00000316496:H137Q	ENSP00000316496:H137Q	H	-	3	2	DCAF4L2	88954905	1.000000	0.71417	0.021000	0.16686	0.090000	0.18270	1.251000	0.32862	-0.661000	0.05345	-0.444000	0.05651	CAC	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375302.1		-	ENST00000319675.3	Missense_Mutation	SNP	8 : 88885789 - 88885789 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	548	87
KRT25	147183	broad.mit.edu	37	17	38910676	38910676	+	Silent	SNP	G	G	A	rs146092638		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38910676G>A	ENST00000312150.4	-	2	534	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	158	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TGGCATTATCGATCTGCAGAA	0.388		NA											G	1	5e-04	NA	0.0028	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	4e-04	0.8999	LOWCOV,EXOME	NA	NA	2e-04	SNP								NA				0													137	130	133			NA	NA	17		NA											NA				38910676		2203	4300	6503	SO:0001819	synonymous_variant			AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897	147183	147183		-, Intermediate filaments type I, keratins (acidic)	30839	protein-coding gene	gene with protein product			keratin 25A	KRT25A	NA	16831889	Standard	NM_181534	NM_181534	NA	Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.474C>T	17.37:g.38910676G>A		NA		37	CCDS11373.1																																																																																			KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257218.1		-	ENST00000312150.4	Silent	SNP	17 : 38910676 - 38910676 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	484	97
LPAR1	1902	broad.mit.edu	37	9	113704413	113704413	+	Silent	SNP	G	G	A	rs34483952	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113704413G>A	ENST00000374431.3	-	4	464	c.81C>T	c.(79-81)aaC>aaT	p.N27N	LPAR1_ENST00000541779.1_Silent_p.N28N|LPAR1_ENST00000374430.2_Silent_p.N27N|LPAR1_ENST00000358883.4_Silent_p.N27N|LPAR1_ENST00000538760.1_Silent_p.N28N	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	27					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						CAATGGACTCGTTGTAGAAGC	0.403		NA											G	13	0.01	0.02	0.0028	2184	NA	1	,	,	NA	2e-04	0.0013	NA	NA	0.0059	1	LOWCOV,EXOME	NA	NA	3e-04	SNP	NSCLC(115;661 2323 9836 34256)							NA				0								G	,	125,4281	90.6+/-129.3	0,125,2078	85	75	79		81,81	-2.9	1	9	dbSNP_126	79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	LPAR1	NM_001401.3,NM_057159.2	,	0,126,6377	AA,AG,GG	NA	0.0116,2.837,0.9688	,	27/365,27/365	113704413	126,12880	2203	4300	6503	SO:0001819	synonymous_variant			U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121	1902	1902		GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid	3166	protein-coding gene	gene with protein product		602282	endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2	EDG2	NA	8922387, 9070858	Standard	NM_057159	NM_001401	NA	Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.81C>T	9.37:g.113704413G>A		NA	O00656|O00722|P78351	37	CCDS6777.1																																																																																			LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053631.1		-	ENST00000374431.3	Silent	SNP	9 : 113704413 - 113704413 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	472	75
CCDC66	285331	broad.mit.edu	37	3	56653485	56653485	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:56653485C>T	ENST00000394672.3	+	16	2635	c.2565C>T	c.(2563-2565)atC>atT	p.I855I	CCDC66_ENST00000436465.2_Silent_p.I855I|CCDC66_ENST00000326595.7_Silent_p.I821I	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	855										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		CAAATGAGATCTATTACCTTG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	111	108			NA	NA	3		NA											NA				56653485		2203	4300	6503	SO:0001819	synonymous_variant			AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376	285331	285331			27709	protein-coding gene	gene with protein product					NA	14702039	Standard	NM_001012506	NR_024460	NA	Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.2565C>T	3.37:g.56653485C>T		NA	B3KWL8|Q4VC34|Q8N949	37	CCDS46852.1																																																																																			CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341473.1		+	ENST00000394672.3	Silent	SNP	3 : 56653485 - 56653485 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	504	107
PRR16	51334	broad.mit.edu	37	5	119800284	119800284	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:119800284G>A	ENST00000407149.2	+	1	312	c.103G>A	c.(103-105)Gag>Aag	p.E35K	PRR16_ENST00000379551.2_5'UTR			Q569H4	PRR16_HUMAN	proline rich 16	35										endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GATCATCGTGGAGGATTTGGA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	16	17			NA	NA	5		NA											NA				119800284		876	1990	2866	SO:0001583	missense			AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838	51334	51334			29654	protein-coding gene	gene with protein product		615931			NA	15971941	Standard	NM_016644	XM_005272010	NA	Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.103G>A	5.37:g.119800284G>A	ENSP00000385118:p.Glu35Lys	NA	D3DSZ0|Q8IXY1|Q9NYI5	37		.	.	.	.	.	.	.	.	.	.	G	14.14	2.445621	0.43429	.	.	ENSG00000184838	ENST00000407149	T	0.49720	0.77	4.57	3.62	0.41486	.	.	.	.	.	T	0.36193	0.0958	.	.	.	0.80722	D	1	B	0.25904	0.137	B	0.29942	0.109	T	0.13602	-1.0503	7	.	.	.	-8.1888	13.2731	0.60172	0.0:0.1604:0.8396:0.0	.	35	Q569H4	PRR16_HUMAN	K	35	ENSP00000385118:E35K	.	E	+	1	0	PRR16	119828183	1.000000	0.71417	1.000000	0.80357	0.276000	0.26787	4.959000	0.63666	2.253000	0.74438	0.561000	0.74099	GAG	PRR16-002	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000371059.1		+	ENST00000407149.2	Missense_Mutation	SNP	5 : 119800284 - 119800284 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	70	10
TNR	7143	broad.mit.edu	37	1	175375803	175375803	+	Silent	SNP	G	G	A	rs142523357	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175375803G>A	ENST00000367674.2	-	3	756	c.48C>T	c.(46-48)ggC>ggT	p.G16G	TNR_ENST00000263525.2_Silent_p.G16G			Q92752	TENR_HUMAN	tenascin R	NA					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCAGGTTGATGCCAATGAGCA	0.557		NA											G	1	5e-04	0.002	NA	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9181	EXOME	NA	NA	3e-04	SNP								NA				0								G		3,4403	6.2+/-15.9	0,3,2200	174	154	161		48	-11.1	0.5	1	dbSNP_134	161	0,8600		0,0,4300	no	coding-synonymous	TNR	NM_003285.2		0,3,6500	AA,AG,GG	NA	0.0,0.0681,0.0231		16/1359	175375803	3,13003	2203	4300	6503	SO:0001819	synonymous_variant			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147	7143	7143		Fibrinogen C domain containing, Fibronectin type III domain containing	11953	protein-coding gene	gene with protein product	restrictin, janusin	601995			NA	8626505, 8940128	Standard	NM_003285	NM_003285	NA	Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.48C>T	1.37:g.175375803G>A		NA	C9J563|Q15568|Q5R3G0	37	CCDS1318.1																																																																																			TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084414.4		-	ENST00000367674.2	Silent	SNP	1 : 175375803 - 175375803 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	755	70
STXBP5	134957	broad.mit.edu	37	6	147636794	147636794	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147636794C>A	ENST00000367481.3	+	15	1654	c.1546C>A	c.(1546-1548)Ctg>Atg	p.L516M	STXBP5_ENST00000367480.3_Missense_Mutation_p.L516M|STXBP5_ENST00000321680.6_Missense_Mutation_p.L516M|STXBP5_ENST00000179882.6_Missense_Mutation_p.L187M	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	516					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AAGTAGAATGCTGTGCATCGC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	151	154			NA	NA	6		NA											NA				147636794		2203	4300	6503	SO:0001583	missense			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506	NA	134957		WD repeat domain containing	19665	protein-coding gene	gene with protein product		604586			NA	9620695, 14767561	Standard		NM_139244	NA	Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000367481.3:c.1546C>A	6.37:g.147636794C>A	ENSP00000356451:p.Leu516Met	NA	Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	37	CCDS5211.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966391	0.74131	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.74737	0.77;0.77;-0.87;-0.78	5.78	4.02	0.46733	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.81578	0.4852	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.998;0.997	T	0.83308	-0.0024	10	0.54805	T	0.06	.	12.5036	0.55970	0.0:0.8648:0.0:0.1352	.	516;516;187	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	M	516;516;516;187	ENSP00000356451:L516M;ENSP00000321826:L516M;ENSP00000356450:L516M;ENSP00000179882:L187M	ENSP00000179882:L187M	L	+	1	2	STXBP5	147678487	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.987000	0.40687	0.802000	0.34089	0.563000	0.77884	CTG	STXBP5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042605.1		+	ENST00000367481.3	Missense_Mutation	SNP	6 : 147636794 - 147636794 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	472	107
MAFF	23764	broad.mit.edu	37	22	38610560	38610560	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38610560G>A	ENST00000338483.2	+	3	532	c.170G>A	c.(169-171)cGc>cAc	p.R57H	MAFF_ENST00000538999.1_Missense_Mutation_p.R28H|MAFF_ENST00000407965.1_Missense_Mutation_p.R57H|MAFF_ENST00000538320.1_Missense_Mutation_p.R57H|MAFF_ENST00000426621.2_Missense_Mutation_p.R57H			Q9ULX9	MAFF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F	57					blood coagulation|parturition|transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|skin(1)	3	Melanoma(58;0.045)					CAGCGGCGCCGCACACTCAAA	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	13	13			NA	NA	22		NA											NA				38610560		2200	4290	6490	SO:0001583	missense			AJ010857	CCDS13968.1, CCDS54528.1	22q13.1	2013-07-09	2013-07-09		ENSG00000185022	ENSG00000185022	23764	23764			6780	protein-coding gene	gene with protein product		604877			NA	10591208	Standard	NM_001161572	NM_012323	NA	Approved	hMafF	uc011anr.2	Q9ULX9	OTTHUMG00000151163	ENST00000338483.2:c.170G>A	22.37:g.38610560G>A	ENSP00000345393:p.Arg57His	NA	Q9Y525	37	CCDS13968.1	.	.	.	.	.	.	.	.	.	.	G	35	5.570085	0.96540	.	.	ENSG00000185022	ENST00000338483;ENST00000538320;ENST00000538999;ENST00000441709;ENST00000417948;ENST00000426621;ENST00000407965	D;D;D;D;D;D;D	0.96522	-4.04;-4.04;-4.04;-4.04;-4.04;-4.04;-4.04	3.92	3.92	0.45320	Basic-leucine zipper (bZIP) transcription factor (2);Maf transcription factor (1);Eukaryotic transcription factor, Skn-1-like, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.98394	0.9466	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99811	1.1041	10	0.87932	D	0	-9.8937	15.9272	0.79628	0.0:0.0:1.0:0.0	.	57	Q9ULX9	MAFF_HUMAN	H	57;57;28;28;57;57;57	ENSP00000345393:R57H;ENSP00000442060:R57H;ENSP00000441482:R28H;ENSP00000391589:R28H;ENSP00000416493:R57H;ENSP00000388882:R57H;ENSP00000384094:R57H	ENSP00000345393:R57H	R	+	2	0	MAFF	36940506	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.670000	0.98625	1.719000	0.51432	0.455000	0.32223	CGC	MAFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321624.1		+	ENST00000338483.2	Missense_Mutation	SNP	22 : 38610560 - 38610560 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	101	21
PIK3C2B	5287	broad.mit.edu	37	1	204402964	204402964	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204402964A>C	ENST00000367187.3	-	26	4356	c.3800T>G	c.(3799-3801)cTc>cGc	p.L1267R	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.L1239R|RP11-739N20.2_ENST00000443515.1_RNA	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1267	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CTTGCGAATGAGGTTGTAGGC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													180	163	169			NA	NA	1		NA											NA				204402964		2203	4300	6503	SO:0001583	missense			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	5287	5287	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	phosphoinositide-3-kinase, class 2, beta polypeptide		NA	9144573, 9830063	Standard	NM_002646	NM_002646	NA	Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.3800T>G	1.37:g.204402964A>C	ENSP00000356155:p.Leu1267Arg	NA	O95666|Q5SW99	37	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	A	18.74	3.688735	0.68271	.	.	ENSG00000133056	ENST00000367187;ENST00000391949;ENST00000424712	D;D	0.82081	-1.57;-1.57	5.89	5.89	0.94794	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.072137	0.56097	D	0.000027	D	0.87853	0.6282	L	0.47716	1.5	0.49915	D	0.999835	B;D	0.64830	0.002;0.994	B;D	0.65573	0.017;0.936	D	0.88456	0.3052	10	0.59425	D	0.04	.	15.9741	0.80044	1.0:0.0:0.0:0.0	.	1239;1267	F5GWN5;O00750	.;P3C2B_HUMAN	R	1267;45;1239	ENSP00000356155:L1267R;ENSP00000400561:L1239R	ENSP00000356155:L1267R	L	-	2	0	PIK3C2B	202669587	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.236000	0.78154	2.246000	0.74042	0.533000	0.62120	CTC	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087965.1		-	ENST00000367187.3	Missense_Mutation	SNP	1 : 204402964 - 204402964 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1166	176
TSGA10	80705	broad.mit.edu	37	2	99722093	99722093	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99722093G>A	ENST00000393483.3	-	8	1122	c.278C>T	c.(277-279)aCg>aTg	p.T93M	TSGA10_ENST00000539964.1_Missense_Mutation_p.T93M|TSGA10_ENST00000355053.4_Missense_Mutation_p.T93M|TSGA10_ENST00000410001.1_Missense_Mutation_p.T93M|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000542655.1_Missense_Mutation_p.T93M	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	93					spermatogenesis	cytoplasm|nuclear membrane		p.T93M(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						AGCATGTGCCGTTGTTGATTT	0.413		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)											238	229	232			NA	NA	2		NA											NA				99722093		2203	4300	6503	SO:0001583	missense			AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951	80705	80705			14927	protein-coding gene	gene with protein product	cancer/testis antigen 79	607166			NA	11179690	Standard	NM_182911	NM_025244	NA	Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.278C>T	2.37:g.99722093G>A	ENSP00000377123:p.Thr93Met	NA	D3DVH7|Q8NEP0|Q9BWX0	37	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271194	0.80469	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.75;0.73	4.99	4.99	0.66335	.	0.104336	0.42821	D	0.000649	T	0.61085	0.2319	L	0.44542	1.39	0.39356	D	0.965848	D;D	0.89917	1.0;1.0	D;D	0.71870	0.96;0.975	T	0.62364	-0.6870	10	0.49607	T	0.09	-14.2659	17.049	0.86513	0.0:0.0:1.0:0.0	.	93;93	B7Z925;Q9BZW7	.;TSG10_HUMAN	M	93	ENSP00000377123:T93M;ENSP00000386956:T93M;ENSP00000347161:T93M;ENSP00000444419:T93M;ENSP00000386508:T93M;ENSP00000377122:T93M	ENSP00000347161:T93M	T	-	2	0	TSGA10	99088525	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.481000	0.81124	2.601000	0.87937	0.650000	0.86243	ACG	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253125.1		-	ENST00000393483.3	Missense_Mutation	SNP	2 : 99722093 - 99722093 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1104	277
C20orf196	149840	broad.mit.edu	37	20	5844104	5844104	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5844104C>A	ENST00000303142.6	+	3	700	c.613C>A	c.(613-615)Ctg>Atg	p.L205M		NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196	205										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						AATGAAAGACCTGTAACTGGT	0.512		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	20		NA											NA				5844104		2201	4298	6499	SO:0001583	missense			AK057796	CCDS13091.1	20p12.3	2006-07-07			ENSG00000171984	ENSG00000171984	149840	149840			26318	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152504	NM_152504	NA	Approved	FLJ25067	uc002wmf.3	Q8IYI0	OTTHUMG00000031813	ENST00000303142.6:c.613C>A	20.37:g.5844104C>A	ENSP00000305875:p.Leu205Met	NA	A8K9J3|Q5TGA9|Q96LU1	37	CCDS13091.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.606421	0.28623	.	.	ENSG00000171984	ENST00000303142;ENST00000378971	T	0.51325	0.71	5.54	1.21	0.21127	.	1.162880	0.06175	N	0.678450	T	0.29190	0.0726	N	0.19112	0.55	0.09310	N	1	P	0.38711	0.643	B	0.34301	0.179	T	0.31447	-0.9943	10	0.87932	D	0	-11.1558	3.344	0.07128	0.1662:0.4178:0.3232:0.0928	.	205	Q8IYI0	CT196_HUMAN	M	205;151	ENSP00000305875:L205M	ENSP00000305875:L205M	L	+	1	2	C20orf196	5792104	0.000000	0.05858	0.447000	0.26932	0.171000	0.22731	-0.269000	0.08596	0.828000	0.34709	0.655000	0.94253	CTG	C20orf196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077882.2		+	ENST00000303142.6	Missense_Mutation	SNP	20 : 5844104 - 5844104 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	456	84
IRX6	79190	broad.mit.edu	37	16	55361564	55361564	+	Silent	SNP	A	A	G	rs148248438		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55361564A>G	ENST00000290552.7	+	4	1812	c.480A>G	c.(478-480)acA>acG	p.T160T	IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	160						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCACCAGTACACTCAAGGCCT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	79	88			NA	NA	16		NA											NA				55361564		2198	4300	6498	SO:0001819	synonymous_variant			AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387	79190	79190		Homeoboxes / TALE class	14675	protein-coding gene	gene with protein product		606196	iroquois homeobox protein 7, iroquois homeobox protein 6	IRX7	NA		Standard	NM_024335	NM_024335	NA	Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.480A>G	16.37:g.55361564A>G		NA	B2RN06|Q7Z2K0	37	CCDS32449.1																																																																																			IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417445.4		+	ENST00000290552.7	Silent	SNP	16 : 55361564 - 55361564 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	272	54
TTN	7273	broad.mit.edu	37	2	179407472	179407472	+	Missense_Mutation	SNP	G	G	T	rs146098114	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179407472G>T	ENST00000589042.1	-	348	97333	c.97109C>A	c.(97108-97110)aCt>aAt	p.T32370N	TTN_ENST00000342992.6_Missense_Mutation_p.T29802N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T23305N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T23430N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T23497N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T30729N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30729	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTCTGATAGTGGTTTCACG	0.393		NA											G	1	5e-04	NA	NA	2184	0.0017	0.9998	,	,	NA	3e-04	NA	NA	NA	5e-04	0.8415	LOWCOV	NA	NA	0.0022	SNP								NA				0													236	224	228			NA	NA	2		NA											NA				179407472		1887	4125	6012	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.97109C>A	2.37:g.179407472G>T	ENSP00000467141:p.Thr32370Asn	NA	E7ET18	37	CCDS59435.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	19.40	3.819888	0.71028	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.67	5.67	0.87782	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75591	0.3870	L	0.31120	0.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.77822	-0.2445	9	0.87932	D	0	.	19.773	0.96379	0.0:0.0:1.0:0.0	.	23305;23430;23497;30729	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	29802;23305;23497;23430;23302	ENSP00000343764:T29802N;ENSP00000434586:T23305N;ENSP00000340554:T23497N;ENSP00000352154:T23430N	ENSP00000340554:T23497N	T	-	2	0	TTN	179115718	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.903000	0.87398	2.677000	0.91161	0.655000	0.94253	ACT	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179407472 - 179407472 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	973	164
ZNF836	162962	broad.mit.edu	37	19	52658887	52658887	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52658887T>C	ENST00000322146.8	-	5	2570	c.2049A>G	c.(2047-2049)aaA>aaG	p.K683K	ZNF836_ENST00000597252.1_Silent_p.K683K|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	683					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTATCAGATGTTTAGTGAGGC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	90	88			NA	NA	19		NA											NA				52658887		2135	4257	6392	SO:0001819	synonymous_variant			BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267	162962	162962		Zinc fingers, C2H2-type, -	34333	protein-coding gene	gene with protein product					NA		Standard	NM_001102657	NM_001102657	NA	Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.2049A>G	19.37:g.52658887T>C		NA		37	CCDS46162.1																																																																																			ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462456.1		-	ENST00000322146.8	Silent	SNP	19 : 52658887 - 52658887 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	520	98
TASP1	55617	broad.mit.edu	37	20	13561576	13561576	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13561576C>A	ENST00000337743.4	-	6	576	c.456G>T	c.(454-456)aaG>aaT	p.K152N	TASP1_ENST00000539805.1_Intron|TASP1_ENST00000480436.1_5'UTR	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	152					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						AGAGCTTGCCCTTCTGCCCTT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	123	125			NA	NA	20		NA											NA				13561576		2203	4300	6503	SO:0001583	missense			AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	55617	55617	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	chromosome 20 open reading frame 13	C20orf13	NA	14636557	Standard	NM_017714	XR_430268	NA	Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.456G>T	20.37:g.13561576C>A	ENSP00000338624:p.Lys152Asn	NA	Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	37	CCDS13116.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056304	0.36277	.	.	ENSG00000089123	ENST00000378157;ENST00000337743;ENST00000455532	D;D	0.93307	-3.2;-2.97	5.73	3.79	0.43588	.	0.041485	0.85682	D	0.000000	D	0.86887	0.6041	L	0.29908	0.895	0.80722	D	1	B;B	0.24132	0.098;0.061	B;B	0.25759	0.046;0.063	T	0.81477	-0.0915	10	0.30854	T	0.27	-13.0612	7.8134	0.29245	0.0:0.661:0.0:0.339	.	152;129	Q9H6P5;Q5JWM4	TASP1_HUMAN;.	N	129;152;129	ENSP00000338624:K152N;ENSP00000400580:K129N	ENSP00000338624:K152N	K	-	3	2	TASP1	13509576	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.268000	0.33062	1.413000	0.46997	0.655000	0.94253	AAG	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078041.2		-	ENST00000337743.4	Missense_Mutation	SNP	20 : 13561576 - 13561576 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	466	12
ADAM15	8751	broad.mit.edu	37	1	155028286	155028286	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155028286G>A	ENST00000356955.2	+	7	734	c.633G>A	c.(631-633)gaG>gaA	p.E211E	ADAM15_ENST00000368412.3_Silent_p.E211E|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000271836.6_Silent_p.E211E|ADAM15_ENST00000360674.4_Silent_p.E211E|ADAM15_ENST00000447332.3_Silent_p.E195E|ADAM15_ENST00000531455.1_Silent_p.E221E|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000449910.2_Silent_p.E211E|ADAM15_ENST00000359280.4_Silent_p.E211E|ADAM15_ENST00000355956.2_Silent_p.E211E	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	211					angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGGTAACAGAGACCAAGACTG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	159	164			NA	NA	1		NA											NA				155028286		2203	4300	6503	SO:0001819	synonymous_variant			U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537	8751	8751		ADAM metallopeptidase domain containing	193	protein-coding gene	gene with protein product	metargidin	605548	a disintegrin and metalloproteinase domain 15 (metargidin)		NA	9516430	Standard	NM_003815	NM_003815	NA	Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.633G>A	1.37:g.155028286G>A		NA	B3KQU5|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78	37	CCDS1087.1																																																																																			ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387168.1		+	ENST00000356955.2	Silent	SNP	1 : 155028286 - 155028286 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	564	13
MDM2	4193	broad.mit.edu	37	12	69222680	69222680	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69222680G>T	ENST00000350057.5	+	6	560	c.560G>T	c.(559-561)aGc>aTc	p.S187I	MDM2_ENST00000299252.4_Intron|MDM2_ENST00000462284.1_Missense_Mutation_p.S218I|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000258148.7_Missense_Mutation_p.S163I|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000258149.5_Missense_Mutation_p.S157I			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	212	Interaction with MTBP (By similarity).|Interaction with PYHIN1.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			AGAAGCAGTAGCAGTGAATCT	0.418		NA	A		sarcoma, glioma, colorectal, other									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		12	12q15	4193	Mdm2 p53 binding protein homolog		M, O, E, L	0													185	173	177			NA	NA	12		NA											NA				69222680		1920	4128	6048	SO:0001583	missense				CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679	4193	4193			6973	protein-coding gene	gene with protein product		164785	mouse double minute 2, human homolog of; p53-binding protein, Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse), Mdm2 p53 binding protein homolog (mouse)		NA	1614537, 16905769	Standard	NM_006880	NM_002392	NA	Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.560G>T	12.37:g.69222680G>T	ENSP00000266624:p.Ser187Ile	NA	A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	37		.	.	.	.	.	.	.	.	.	.	G	15.30	2.792010	0.50102	.	.	ENSG00000135679	ENST00000462284;ENST00000544648;ENST00000258149;ENST00000311440;ENST00000311420;ENST00000258148;ENST00000539479;ENST00000393415;ENST00000350057	T;T;T;T;T	0.53857	1.27;0.68;0.68;0.6;1.28	4.74	3.85	0.44370	SWIB/MDM2 domain (1);	0.078405	0.85682	D	0.000000	T	0.65270	0.2675	M	0.61703	1.905	0.80722	D	1	P;P;P;D	0.55800	0.953;0.808;0.953;0.973	P;B;P;P	0.61533	0.89;0.261;0.89;0.89	T	0.65869	-0.6063	9	.	.	.	-0.0638	13.6451	0.62277	0.0763:0.0:0.9237:0.0	.	167;212;163;218	Q00987-9;Q00987;G3XA89;Q00987-11	.;MDM2_HUMAN;.;.	I	218;167;157;212;173;163;212;212;187	ENSP00000417281:S218I;ENSP00000258149:S157I;ENSP00000258148:S163I;ENSP00000444430:S212I;ENSP00000266624:S187I	.	S	+	2	0	MDM2	67508947	1.000000	0.71417	1.000000	0.80357	0.448000	0.32197	5.027000	0.64109	1.330000	0.45394	-0.373000	0.07131	AGC	MDM2-033	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000402665.1		+	ENST00000350057.5	Missense_Mutation	SNP	12 : 69222680 - 69222680 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	777	72
TRIM32	22954	broad.mit.edu	37	9	119461253	119461253	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119461253C>T	ENST00000450136.1	+	2	1393	c.1232C>T	c.(1231-1233)cCc>cTc	p.P411L	ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.P411L|ASTN2_ENST00000361477.3_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	411					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						CGCCGCAGCCCCAGTGGCATT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(92;212 1916 19711 26951)							NA				0													109	116	114			NA	NA	9		NA											NA				119461253		2203	4300	6503	SO:0001583	missense			U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401	22954	22954		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	16380	protein-coding gene	gene with protein product		602290	limb girdle muscular dystrophy 2H (autosomal recessive), tripartite motif-containing 32	LGMD2H	NA	11331580, 7778269, 16606853	Standard	NM_012210	NM_001099679	NA	Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.1232C>T	9.37:g.119461253C>T	ENSP00000408292:p.Pro411Leu	NA	Q9NQP8	37	CCDS6817.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843637	0.51164	.	.	ENSG00000119401	ENST00000450136;ENST00000373983	D;D	0.91295	-2.82;-2.82	5.47	5.47	0.80525	Six-bladed beta-propeller, TolB-like (1);	0.145392	0.46442	D	0.000287	D	0.84329	0.5448	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.78513	-0.2175	9	.	.	.	-12.8032	19.3288	0.94275	0.0:1.0:0.0:0.0	.	411	Q13049	TRI32_HUMAN	L	411	ENSP00000408292:P411L;ENSP00000363095:P411L	.	P	+	2	0	TRIM32	118501074	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.456000	0.80751	2.551000	0.86045	0.650000	0.86243	CCC	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055466.2		+	ENST00000450136.1	Missense_Mutation	SNP	9 : 119461253 - 119461253 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1007	204
RNF113B	140432	broad.mit.edu	37	13	98829110	98829110	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:98829110G>A	ENST00000267291.6	-	1	409	c.381C>T	c.(379-381)atC>atT	p.I127I	FARP1_ENST00000376586.2_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000595437.1_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	127							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			TGCACTTGAGGATGGTCGGCG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	78	80			NA	NA	13		NA											NA				98829110		2203	4300	6503	SO:0001819	synonymous_variant			AF539427	CCDS9486.1	13q32.2	2006-08-22	2005-03-22	2005-03-22	ENSG00000139797	ENSG00000139797	140432	140432		RING-type (C3HC4) zinc fingers	17267	protein-coding gene	gene with protein product			zinc finger protein 183-like 1	ZNF183L1	NA		Standard	NM_178861	NM_178861	NA	Approved	RNF161	uc001vnk.3	Q8IZP6	OTTHUMG00000017245	ENST00000267291.6:c.381C>T	13.37:g.98829110G>A		NA	Q8WWF9|Q96QY9	37	CCDS9486.1																																																																																			RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045536.3		-	ENST00000267291.6	Silent	SNP	13 : 98829110 - 98829110 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	346	52
F2RL3	9002	broad.mit.edu	37	19	17001352	17001352	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17001352C>A	ENST00000248076.3	+	2	1408	c.1078C>A	c.(1078-1080)Ccg>Acg	p.P360T		NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	360					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCAACGGTCGCCGGGGGACAC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	21	22			NA	NA	19		NA											NA				17001352		2200	4298	6498	SO:0001583	missense			AF055917	CCDS12350.1	19p12	2012-08-08					9002	9002		GPCR / Class A : Protease activated receptors	3540	protein-coding gene	gene with protein product	proteinase-activated receptor-4	602779			NA	9618465	Standard		XM_005260139	NA	Approved	PAR4	uc002nfa.3	Q96RI0		ENST00000248076.3:c.1078C>A	19.37:g.17001352C>A	ENSP00000248076:p.Pro360Thr	NA	O76067|Q6DK42	37	CCDS12350.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701811	0.30232	.	.	ENSG00000127533	ENST00000248076	T	0.57436	0.4	4.15	1.75	0.24633	.	0.781535	0.10545	U	0.662160	T	0.35998	0.0951	L	0.27053	0.805	0.09310	N	1	B	0.25105	0.118	B	0.23852	0.049	T	0.20840	-1.0263	10	0.14252	T	0.57	.	9.728	0.40344	0.6634:0.3366:0.0:0.0	.	360	Q96RI0	PAR4_HUMAN	T	360	ENSP00000248076:P360T	ENSP00000248076:P360T	P	+	1	0	F2RL3	16862352	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	0.489000	0.22387	0.676000	0.31285	0.491000	0.48974	CCG	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462875.1		+	ENST00000248076.3	Missense_Mutation	SNP	19 : 17001352 - 17001352 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	90	17
PADI1	29943	broad.mit.edu	37	1	17570600	17570600	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17570600C>T	ENST00000375471.4	+	16	1946	c.1854C>T	c.(1852-1854)tcC>tcT	p.S618S	PADI1_ENST00000413717.2_Silent_p.S133S|PADI1_ENST00000537499.1_Silent_p.S175S|PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000536552.1_Silent_p.S89S	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	618					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	AGGTGCAGTCCCTGCTGGAGC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(80;414 1257 4580 27746 50832)							NA				0													89	81	84			NA	NA	1		NA											NA				17570600		2203	4300	6503	SO:0001819	synonymous_variant			AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	29943	29943	3.5.3.15	Peptidyl arginine deiminases	18367	protein-coding gene	gene with protein product	peptidylarginine deiminase type I, protein-arginine deiminase type-1, hPAD-colony 10	607934			NA	12416996	Standard	NM_013358	NM_013358	NA	Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.1854C>T	1.37:g.17570600C>T		NA	A1L4K6|Q70SX6	37	CCDS178.1																																																																																			PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006621.1		+	ENST00000375471.4	Silent	SNP	1 : 17570600 - 17570600 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	37
ZSCAN10	84891	broad.mit.edu	37	16	3142764	3142764	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3142764G>A	ENST00000252463.2	-	1	97	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W	ZSCAN10_ENST00000575108.1_Intron|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.T11M|ZSCAN10_ENST00000572548.1_Missense_Mutation_p.R4W	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	4	SCAN box.				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						AGGGACGCCCGTGGCCCCATG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													10	12	12			NA	NA	16		NA											NA				3142764		2192	4289	6481	SO:0001583	missense			AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182	84891	84891		-, Zinc fingers, C2H2-type	12997	protein-coding gene	gene with protein product			zinc finger protein 206	ZNF206	NA	9653642	Standard	NM_032805	NM_032805	NA	Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.10C>T	16.37:g.3142764G>A	ENSP00000252463:p.Arg4Trp	NA	B3KQD3	37	CCDS10493.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.78|11.78	1.741812|1.741812	0.30865|0.30865	.|.	.|.	ENSG00000130182|ENSG00000130182	ENST00000252463|ENST00000538082	T|.	0.05580|.	3.42|.	5.39|5.39	0.17|0.17	0.15021|0.15021	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);|.	0.145945|.	0.31279|.	N|.	0.007926|.	T|T	0.55465|0.55465	0.1922|0.1922	M|M	0.85859|0.85859	2.78|2.78	0.09310|0.09310	N|N	1|1	D|B	0.69078|0.28055	0.997|0.199	P|B	0.58077|0.25140	0.832|0.058	T|T	0.52815|0.52815	-0.8525|-0.8525	10|8	0.87932|0.42905	D|T	0|0.14	-39.5061|-39.5061	13.0515|13.0515	0.58958|0.58958	0.0:0.0:0.4185:0.5815|0.0:0.0:0.4185:0.5815	.|.	4|26	Q96SZ4|Q1WWM2	ZSC10_HUMAN|.	W|M	4|26	ENSP00000252463:R4W|.	ENSP00000252463:R4W|ENSP00000440047:T26M	R|T	-|-	1|2	2|0	ZSCAN10|ZSCAN10	3082765|3082765	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	-0.116000|-0.116000	0.10724|0.10724	0.156000|0.156000	0.19299|0.19299	-0.277000|-0.277000	0.10078|0.10078	CGG|ACG	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437124.2		-	ENST00000252463.2	Missense_Mutation	SNP	16 : 3142764 - 3142764 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	107	25
CHRM2	1129	broad.mit.edu	37	7	136699928	136699928	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:136699928G>A	ENST00000445907.2	+	3	844	c.316G>A	c.(316-318)Gtc>Atc	p.V106I	CHRM2_ENST00000402486.3_Missense_Mutation_p.V106I|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.V106I|CHRM2_ENST00000401861.1_Missense_Mutation_p.V106I|CHRM2_ENST00000453373.1_Missense_Mutation_p.V106I|CHRM2_ENST00000320658.5_Missense_Mutation_p.V106I|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000598184.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	106					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GGACTATGTGGTCAGCAATGC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	162	165			NA	NA	7		NA											NA				136699928		2203	4300	6503	SO:0001583	missense				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072	1129	1129		Cholinergic receptors, GPCR / Class A : Cholinergic receptors, muscarinic	1951	protein-coding gene	gene with protein product	acetylcholine receptor, muscarinic 2	118493			NA		Standard		NM_000739	NA	Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.316G>A	7.37:g.136699928G>A	ENSP00000399745:p.Val106Ile	NA	Q4VBK6|Q9P1X9	37	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392604	0.83011	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15;2.15	5.61	5.61	0.85477	GPCR, rhodopsin-like superfamily (1);	0.058614	0.64402	D	0.000002	T	0.29817	0.0745	L	0.56340	1.77	0.80722	D	1	P	0.41420	0.749	P	0.45712	0.491	T	0.01349	-1.1378	10	0.17369	T	0.5	-4.778	19.7047	0.96068	0.0:0.0:1.0:0.0	.	106	P08172	ACM2_HUMAN	I	106	ENSP00000399745:V106I;ENSP00000415386:V106I;ENSP00000319984:V106I;ENSP00000380733:V106I;ENSP00000384937:V106I;ENSP00000384401:V106I	ENSP00000319984:V106I	V	+	1	0	CHRM2	136350468	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.807000	0.99171	2.655000	0.90218	0.650000	0.86243	GTC	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341010.1		+	ENST00000445907.2	Missense_Mutation	SNP	7 : 136699928 - 136699928 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	753	132
TPP1	1200	broad.mit.edu	37	11	6637257	6637257	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6637257C>T	ENST00000533371.1	-	8	1193	c.395G>A	c.(394-396)cGc>cAc	p.R132H	TPP1_ENST00000299427.6_Missense_Mutation_p.R375H			O14773	TPP1_HUMAN	tripeptidyl peptidase I	375					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		GAAGGTAGGGCGGAACTGGTG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	97	102			NA	NA	11		NA											NA				6637257		2201	4296	6497	SO:0001583	missense			AF017456	CCDS7770.1	11p15.4	2014-09-17	2004-12-09	2004-12-10	ENSG00000166340	ENSG00000166340	1200	1200			2073	protein-coding gene	gene with protein product	TPP I	607998	ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease), spinocerebellar ataxia, autosomal recessive 7	CLN2, SCAR7	NA	9653647, 23418007	Standard		NM_000391	NA	Approved		uc001mel.1	O14773	OTTHUMG00000133404	ENST00000533371.1:c.395G>A	11.37:g.6637257C>T	ENSP00000437066:p.Arg132His	NA	Q53HT1|Q5JAK6|Q6UX56|Q71JP6|Q96C37	37		.	.	.	.	.	.	.	.	.	.	C	24.0	4.478376	0.84747	.	.	ENSG00000166340	ENST00000299427;ENST00000533371	D;D	0.92299	-3.01;-3.01	5.56	5.56	0.83823	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.94108	0.8111	L	0.41236	1.265	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.93712	0.7025	10	0.45353	T	0.12	-10.1855	18.5131	0.90925	0.0:1.0:0.0:0.0	.	375	O14773	TPP1_HUMAN	H	375;132	ENSP00000299427:R375H;ENSP00000437066:R132H	ENSP00000299427:R375H	R	-	2	0	TPP1	6593833	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	5.159000	0.64923	2.623000	0.88846	0.561000	0.74099	CGC	TPP1-003	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000384527.1		-	ENST00000533371.1	Missense_Mutation	SNP	11 : 6637257 - 6637257 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	46
TEX2	55852	broad.mit.edu	37	17	62265718	62265718	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62265718C>T	ENST00000258991.3	-	5	2339	c.2255G>A	c.(2254-2256)cGc>cAc	p.R752H	TEX2_ENST00000583097.1_Missense_Mutation_p.R745H|TEX2_ENST00000584379.1_Missense_Mutation_p.R745H			Q8IWB9	TEX2_HUMAN	testis expressed 2	745					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GCTGCTGCTGCGGCTGTGGGT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	68	73			NA	NA	17		NA											NA				62265718		2203	4300	6503	SO:0001583	missense			AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478	55852	55852			30884	protein-coding gene	gene with protein product	transmembrane protein 96		testis expressed sequence 2		NA	11214970	Standard	NM_018469	XM_005257507	NA	Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000258991.3:c.2255G>A	17.37:g.62265718C>T	ENSP00000258991:p.Arg752His	NA	Q6AHZ5|Q8N3L0|Q9C0C5	37	CCDS11658.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521129	0.64747	.	.	ENSG00000136478	ENST00000258991	T	0.48836	0.8	5.88	5.88	0.94601	.	0.100985	0.64402	D	0.000002	T	0.52158	0.1717	M	0.76574	2.34	0.80722	D	1	P;P	0.44578	0.838;0.75	B;B	0.37387	0.248;0.126	T	0.61103	-0.7130	10	0.72032	D	0.01	-13.9632	20.2405	0.98372	0.0:1.0:0.0:0.0	.	752;745	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	H	752	ENSP00000258991:R752H	ENSP00000258991:R752H	R	-	2	0	TEX2	59619450	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.779000	0.68948	2.797000	0.96272	0.561000	0.74099	CGC	TEX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443743.1		-	ENST00000258991.3	Missense_Mutation	SNP	17 : 62265718 - 62265718 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	80
C1orf141	400757	broad.mit.edu	37	1	67558913	67558913	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67558913T>G	ENST00000371007.2	-	8	1087	c.978A>C	c.(976-978)aaA>aaC	p.K326N	C1orf141_ENST00000544837.1_Missense_Mutation_p.K326N|C1orf141_ENST00000371006.1_Missense_Mutation_p.K326N	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	326										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						CCACAAATTGTTTTGTTAGGC	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	93	92			NA	NA	1		NA											NA				67558913		2203	4300	6503	SO:0001583	missense			BC090886	CCDS30745.1, CCDS72804.1	1p31.2	2012-07-23			ENSG00000203963	ENSG00000203963	400757	400757			32044	protein-coding gene	gene with protein product					NA		Standard	NM_001013674	NM_001276351	NA	Approved		uc001ddm.2	Q5JVX7	OTTHUMG00000009406	ENST00000371007.2:c.978A>C	1.37:g.67558913T>G	ENSP00000360046:p.Lys326Asn	NA	Q0P5P5|Q5JVX5	37	CCDS30745.1	.	.	.	.	.	.	.	.	.	.	T	11.51	1.660596	0.29515	.	.	ENSG00000203963	ENST00000371007;ENST00000371006;ENST00000544837	T;T;T	0.48201	0.82;0.82;0.82	4.56	2.03	0.26663	.	0.667620	0.13397	N	0.390906	T	0.17492	0.0420	L	0.32530	0.975	0.09310	N	1	P	0.39250	0.665	B	0.39805	0.31	T	0.08953	-1.0697	10	0.72032	D	0.01	-5.4976	4.0586	0.09827	0.0:0.1103:0.2124:0.6773	.	326	Q5JVX7	CA141_HUMAN	N	326	ENSP00000360046:K326N;ENSP00000360045:K326N;ENSP00000444018:K326N	ENSP00000360045:K326N	K	-	3	2	C1orf141	67331501	0.337000	0.24766	0.006000	0.13384	0.007000	0.05969	0.712000	0.25779	0.847000	0.35167	0.533000	0.62120	AAA	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026096.2		-	ENST00000371007.2	Missense_Mutation	SNP	1 : 67558913 - 67558913 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	582	63
RERGL	79785	broad.mit.edu	37	12	18234333	18234333	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:18234333T>G	ENST00000229002.2	-	6	616	c.410A>C	c.(409-411)gAa>gCa	p.E137A	RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000538724.1_Missense_Mutation_p.E136A|RERGL_ENST00000536890.1_3'UTR	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	137	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						CTTTTGCCCTTCTTCCCAGCC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	95	98			NA	NA	12		NA											NA				18234333		2203	4300	6503	SO:0001583	missense			AK026308	CCDS8679.1, CCDS66332.1	12p12.3	2014-08-12			ENSG00000111404	ENSG00000111404	79785	79785			26213	protein-coding gene	gene with protein product					NA	24127187	Standard	NM_024730	NM_001286201	NA	Approved	FLJ22655	uc001rdq.3	Q9H628	OTTHUMG00000168820	ENST00000229002.2:c.410A>C	12.37:g.18234333T>G	ENSP00000229002:p.Glu137Ala	NA		37	CCDS8679.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.576717	0.86645	.	.	ENSG00000111404	ENST00000229002;ENST00000538724	T;T	0.79033	-1.23;-1.23	4.74	4.74	0.60224	.	0.052009	0.85682	D	0.000000	D	0.88808	0.6537	M	0.87269	2.87	0.80722	D	1	D;D	0.76494	0.969;0.999	P;D	0.85130	0.868;0.997	D	0.90633	0.4568	10	0.72032	D	0.01	.	13.5615	0.61793	0.0:0.0:0.0:1.0	.	136;137	F5H686;Q9H628	.;RERGL_HUMAN	A	137;136	ENSP00000229002:E137A;ENSP00000437814:E136A	ENSP00000229002:E137A	E	-	2	0	RERGL	18125600	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.905000	0.75714	2.073000	0.62155	0.456000	0.33151	GAA	RERGL-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401198.1		-	ENST00000229002.2	Missense_Mutation	SNP	12 : 18234333 - 18234333 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	558	81
RIMBP2	23504	broad.mit.edu	37	12	130919324	130919324	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130919324G>A	ENST00000261655.4	-	11	2320	c.2157C>T	c.(2155-2157)ggC>ggT	p.G719G	RIMBP2_ENST00000535703.1_Silent_p.G627G|RIMBP2_ENST00000536002.1_Silent_p.G627G	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	719						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CCACCGAGGCGCCCCTCCTCT	0.642		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	12		NA											NA				130919324		2203	4300	6503	SO:0001819	synonymous_variant			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709	23504	23504			30339	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 133	611602			NA	10748113	Standard	NM_015347	NM_015347	NA	Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2157C>T	12.37:g.130919324G>A		NA	Q96ID2	37	CCDS31925.1																																																																																			RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399520.1		-	ENST00000261655.4	Silent	SNP	12 : 130919324 - 130919324 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	729	42
FYCO1	79443	broad.mit.edu	37	3	46008506	46008506	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46008506A>G	ENST00000296137.2	-	8	2525	c.2320T>C	c.(2320-2322)Tct>Cct	p.S774P	FYCO1_ENST00000535325.1_Missense_Mutation_p.S774P	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	774					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TGCGCCTGAGACAGGGCTAGC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	56	56			NA	NA	3		NA											NA				46008506		2203	4300	6503	SO:0001583	missense			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820	79443	79443		Zinc fingers, FYVE domain containing	14673	protein-coding gene	gene with protein product		607182			NA	11896456	Standard	NM_024513	NM_024513	NA	Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.2320T>C	3.37:g.46008506A>G	ENSP00000296137:p.Ser774Pro	NA	Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	37	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	A	9.911	1.209595	0.22289	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.21543	2.0;2.0	5.55	-0.343	0.12632	.	0.902870	0.09603	N	0.779956	T	0.17450	0.0419	L	0.43152	1.355	0.09310	N	1	P;B	0.36086	0.536;0.403	B;B	0.37198	0.243;0.086	T	0.26395	-1.0104	10	0.35671	T	0.21	-0.2682	8.0651	0.30657	0.382:0.4815:0.0:0.1365	.	774;774	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	P	774	ENSP00000296137:S774P;ENSP00000441178:S774P	ENSP00000296137:S774P	S	-	1	0	FYCO1	45983510	0.000000	0.05858	0.480000	0.27341	0.566000	0.35808	0.052000	0.14163	0.355000	0.24131	0.533000	0.62120	TCT	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257320.2		-	ENST00000296137.2	Missense_Mutation	SNP	3 : 46008506 - 46008506 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	472	91
PIF1	80119	broad.mit.edu	37	15	65111378	65111378	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65111378C>T	ENST00000268043.4	-	9	1472	c.1378G>A	c.(1378-1380)Gcc>Acc	p.A460T	PIF1_ENST00000333425.6_Missense_Mutation_p.A460T|PIF1_ENST00000559239.1_Missense_Mutation_p.A460T			Q9H611	PIF1_HUMAN	PIF1 5'-to-3' DNA helicase	460	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						AGGGTACTGGCCAGCTCAGGG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	41	43			NA	NA	15		NA											NA				65111378		2202	4299	6501	SO:0001583	missense			AK026345	CCDS10195.2, CCDS66797.1	15q22.1	2013-05-13	2013-05-13	2006-11-24	ENSG00000140451	ENSG00000140451	80119	80119	3.6.4.12		26220	protein-coding gene	gene with protein product		610953	chromosome 15 open reading frame 20, PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)	C15orf20	NA	10926538, 16522649	Standard	NM_025049	NM_025049	NA	Approved	FLJ22692	uc002ant.2	Q9H611	OTTHUMG00000132974	ENST00000268043.4:c.1378G>A	15.37:g.65111378C>T	ENSP00000268043:p.Ala460Thr	NA	Q1W5B6|Q330H5|Q33E24	37	CCDS10195.2	.	.	.	.	.	.	.	.	.	.	C	0.918	-0.716799	0.03206	.	.	ENSG00000140451	ENST00000268043;ENST00000333425	T;T	0.76968	-1.06;-1.06	5.11	3.16	0.36331	.	0.295485	0.36740	N	0.002427	T	0.50429	0.1615	N	0.03903	-0.33	0.26512	N	0.974573	B	0.17852	0.024	B	0.20384	0.029	T	0.35919	-0.9769	10	0.13470	T	0.59	-12.1785	7.4709	0.27349	0.1659:0.7433:0.0:0.0908	.	460	Q9H611	PIF1_HUMAN	T	460	ENSP00000268043:A460T;ENSP00000328174:A460T	ENSP00000268043:A460T	A	-	1	0	PIF1	62898431	1.000000	0.71417	0.342000	0.25602	0.133000	0.20885	4.742000	0.62103	0.606000	0.29965	0.655000	0.94253	GCC	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256533.1		-	ENST00000268043.4	Missense_Mutation	SNP	15 : 65111378 - 65111378 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	192	10
MED13	9969	broad.mit.edu	37	17	60042453	60042453	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60042453C>T	ENST00000397786.2	-	20	4834	c.4758G>A	c.(4756-4758)ggG>ggA	p.G1586G		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1586					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATGTCTGTTGCCCTCCTAGCT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	94	94			NA	NA	17		NA											NA				60042453		2001	4181	6182	SO:0001819	synonymous_variant			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510	9969	9969			22474	protein-coding gene	gene with protein product		603808	thyroid hormone receptor associated protein 1	THRAP1	NA	1019863	Standard	NM_005121	NM_005121	NA	Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.4758G>A	17.37:g.60042453C>T		NA	B2RU05|O60334	37	CCDS42366.1																																																																																			MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445461.1		-	ENST00000397786.2	Silent	SNP	17 : 60042453 - 60042453 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	279	59
COLGALT1	79709	broad.mit.edu	37	19	17692188	17692188	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17692188C>A	ENST00000252599.4	+	12	1924	c.1804C>A	c.(1804-1806)Cgt>Agt	p.R602S		NM_024656.2	NP_078932.2			collagen beta(1-O)galactosyltransferase 1	NA											NA						GGCACTGAGCCGTGAGGCCAA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	66	70			NA	NA	19		NA											NA				17692188		2203	4300	6503	SO:0001583	missense			AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309	79709	79709			26182	protein-coding gene	gene with protein product			glycosyltransferase 25 domain containing 1	GLT25D1	NA	19075007	Standard	NM_024656	NM_024656	NA	Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.1804C>A	19.37:g.17692188C>A	ENSP00000252599:p.Arg602Ser	NA		37	CCDS12363.1	.	.	.	.	.	.	.	.	.	.	C	1.822	-0.471974	0.04445	.	.	ENSG00000130309	ENST00000252599	T	0.75589	-0.95	4.96	3.9	0.45041	.	0.592880	0.16857	N	0.196670	T	0.33818	0.0876	N	0.00368	-1.59	0.31049	N	0.715398	B	0.06786	0.001	B	0.08055	0.003	T	0.40701	-0.9549	10	0.05620	T	0.96	-36.6751	9.3345	0.38043	0.3653:0.6347:0.0:0.0	.	602	Q8NBJ5	GT251_HUMAN	S	602	ENSP00000252599:R602S	ENSP00000252599:R602S	R	+	1	0	GLT25D1	17553188	0.995000	0.38212	0.998000	0.56505	0.651000	0.38670	2.680000	0.46918	2.298000	0.77334	0.313000	0.20887	CGT	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464216.1		+	ENST00000252599.4	Missense_Mutation	SNP	19 : 17692188 - 17692188 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	350	10
LATS1	9113	broad.mit.edu	37	6	149982884	149982884	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:149982884C>T	ENST00000543571.1	-	8	3921	c.3374G>A	c.(3373-3375)cGc>cAc	p.R1125H	LATS1_ENST00000253339.5_Missense_Mutation_p.R1125H	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	1125					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TACTAGATCGCGATTTTTAAT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	97	96			NA	NA	6		NA											NA				149982884		2203	4299	6502	SO:0001583	missense			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023	9113	9113			6514	protein-coding gene	gene with protein product		603473	LATS (large tumor suppressor, Drosophila) homolog 1, LATS, large tumor suppressor, homolog 1 (Drosophila)		NA	9988268, 15122335	Standard	NM_004690	NM_004690	NA	Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.3374G>A	6.37:g.149982884C>T	ENSP00000437550:p.Arg1125His	NA	Q6PKD0	37	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.348251	0.41599	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.54479	0.57;0.57	5.65	4.76	0.60689	.	0.131649	0.34700	N	0.003744	T	0.13841	0.0335	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.10245	-1.0638	9	.	.	.	.	10.7066	0.45958	0.0:0.7956:0.1334:0.071	.	1125	O95835	LATS1_HUMAN	H	1125	ENSP00000437550:R1125H;ENSP00000253339:R1125H	.	R	-	2	0	LATS1	150024577	0.994000	0.37717	0.878000	0.34440	0.938000	0.57974	2.613000	0.46351	1.345000	0.45676	0.591000	0.81541	CGC	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043923.4		-	ENST00000543571.1	Missense_Mutation	SNP	6 : 149982884 - 149982884 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	571	82
AGER	177	broad.mit.edu	37	6	32149346	32149346	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32149346C>T	ENST00000375055.2	-	9	1051	c.1028G>A	c.(1027-1029)aGc>aAc	p.S343N	AGER_ENST00000375065.5_Intron|AGER_ENST00000375069.3_Intron|RNF5_ENST00000427134.2_Intron|AGER_ENST00000375070.3_Intron|AGER_ENST00000375076.4_Intron|AGER_ENST00000438221.2_Missense_Mutation_p.S359N|AGER_ENST00000375067.3_Intron	NM_001206934.1|NM_001206936.1|NM_001206940.1|NM_001206954.1|NM_001206966.1	NP_001193863.1|NP_001193865.1|NP_001193869.1|NP_001193883.1|NP_001193895.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	0					cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						GTGTTGGGGGCTATCTTCTGC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	90	91			NA	NA	6		NA											NA				32149346		1510	2709	4219	SO:0001583	missense			M91211	CCDS4746.1, CCDS4747.1, CCDS56417.1, CCDS56418.1, CCDS75429.1	6p21.3	2013-01-29			ENSG00000204305	ENSG00000204305	177	177		Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	320	protein-coding gene	gene with protein product		600214			NA	7713518	Standard	NM_001136	NM_001136	NA	Approved	RAGE	uc003oap.2	Q15109	OTTHUMG00000031120	ENST00000375055.2:c.1028G>A	6.37:g.32149346C>T	ENSP00000364195:p.Ser343Asn	NA	A2BFI7|B0V176|Q15279|Q9H2X7|Q9Y3R3	37	CCDS56418.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.987435	0.53934	.	.	ENSG00000204305	ENST00000375055;ENST00000438221	T;T	0.59772	0.24;2.01	2.98	2.05	0.26809	.	.	.	.	.	T	0.14442	0.0349	L	0.29908	0.895	0.09310	N	1	B;B	0.27700	0.186;0.117	B;B	0.14578	0.011;0.005	T	0.31392	-0.9945	9	0.02654	T	1	.	8.6932	0.34280	0.0:0.7356:0.2644:0.0	.	343;359	Q15109-3;Q3L1R7	.;.	N	343;359	ENSP00000364195:S343N;ENSP00000387887:S359N	ENSP00000364195:S343N	S	-	2	0	AGER	32257324	0.086000	0.21541	0.001000	0.08648	0.475000	0.33008	0.619000	0.24388	0.461000	0.27071	0.544000	0.68410	AGC	AGER-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268937.1		-	ENST00000375055.2	Missense_Mutation	SNP	6 : 32149346 - 32149346 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	421	32
TMPRSS11E	28983	broad.mit.edu	37	4	69327568	69327568	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69327568T>G	ENST00000305363.4	+	2	105	c.41T>G	c.(40-42)gTt>gGt	p.V14G		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	14					proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						AGGAAAAGAGTTTGTTGGGAA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													368	369	368			NA	NA	4		NA											NA				69327568		2203	4296	6499	SO:0001583	missense			AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128	28983	28983		Serine peptidases / Transmembrane	24465	protein-coding gene	gene with protein product		610399	transmembrane protease, serine 11E2	TMPRSS11E2	NA	15328353	Standard	NM_014058	NM_014058	NA	Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.41T>G	4.37:g.69327568T>G	ENSP00000307519:p.Val14Gly	NA	A6NL71|Q14DC8|Q6UW31	37	CCDS33993.1	.	.	.	.	.	.	.	.	.	.	T	4.731	0.135857	0.09032	.	.	ENSG00000087128	ENST00000305363	D	0.88431	-2.38	6.03	-3.21	0.05140	.	1.765520	0.03708	N	0.249810	T	0.72946	0.3524	N	0.08118	0	0.09310	N	1	B	0.17268	0.021	B	0.14578	0.011	T	0.60151	-0.7319	10	0.23302	T	0.38	.	1.6525	0.02775	0.116:0.3202:0.2232:0.3406	.	14	Q9UL52	TM11E_HUMAN	G	14	ENSP00000307519:V14G	ENSP00000307519:V14G	V	+	2	0	TMPRSS11E	69010163	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-1.299000	0.02754	-0.480000	0.06803	0.455000	0.32223	GTT	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360584.1		+	ENST00000305363.4	Missense_Mutation	SNP	4 : 69327568 - 69327568 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1496	326
ANGPTL3	27329	broad.mit.edu	37	1	63069843	63069843	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:63069843T>G	ENST00000371129.3	+	6	1215	c.1135T>G	c.(1135-1137)Ttg>Gtg	p.L379V	DOCK7_ENST00000251157.5_Intron|ANGPTL3_ENST00000493994.1_3'UTR|DOCK7_ENST00000340370.5_Intron|DOCK7_ENST00000404627.2_Intron	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3	379	Fibrinogen C-terminal.				acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis	extracellular space	cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						AAACAAAGATTTGGTGTTTTC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	111	110			NA	NA	1		NA											NA				63069843		2203	4300	6503	SO:0001583	missense			AF152562	CCDS622.1	1p31.3	2013-02-06			ENSG00000132855	ENSG00000132855	27329	27329		Fibrinogen C domain containing	491	protein-coding gene	gene with protein product	angiopoietin 5	604774		ANGPT5	NA	10644446	Standard	NM_014495	NM_014495	NA	Approved		uc001das.2	Q9Y5C1	OTTHUMG00000009146	ENST00000371129.3:c.1135T>G	1.37:g.63069843T>G	ENSP00000360170:p.Leu379Val	NA		37	CCDS622.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.923441	0.52653	.	.	ENSG00000132855	ENST00000371129	T	0.76578	-1.03	5.6	2.01	0.26516	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.098369	0.64402	D	0.000002	T	0.53190	0.1781	L	0.41906	1.305	0.33659	D	0.60952	P	0.51791	0.948	P	0.50570	0.644	T	0.50233	-0.8852	10	0.15952	T	0.53	.	3.4284	0.07420	0.2153:0.4539:0.0:0.3307	.	379	Q9Y5C1	ANGL3_HUMAN	V	379	ENSP00000360170:L379V	ENSP00000360170:L379V	L	+	1	2	ANGPTL3	62842431	0.982000	0.34865	0.964000	0.40570	0.724000	0.41520	2.327000	0.43858	0.420000	0.25954	0.533000	0.62120	TTG	ANGPTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025344.1		+	ENST00000371129.3	Missense_Mutation	SNP	1 : 63069843 - 63069843 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	583	123
C2CD3	26005	broad.mit.edu	37	11	73814404	73814404	+	Silent	SNP	C	C	T	rs147082398		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73814404C>T	ENST00000313663.7	-	14	2578	c.2352G>A	c.(2350-2352)acG>acA	p.T784T	C2CD3_ENST00000334126.7_Silent_p.T784T	NM_015531.4	NP_056346.3	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	784						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GGGAGGCTGGCGTAGCTACGA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4400		0,0,2200	185	162	170		2352	3	0.5	11	dbSNP_134	170	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous	C2CD3	NM_015531.4		0,1,6492	TT,TC,CC	NA	0.0116,0.0,0.0077		784/1964	73814404	1,12985	2200	4293	6493	SO:0001819	synonymous_variant			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014	26005	26005			24564	protein-coding gene	gene with protein product		615944			NA		Standard	NM_015531	XM_005273897	NA	Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000313663.7:c.2352G>A	11.37:g.73814404C>T		NA	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	37	CCDS31636.1																																																																																			C2CD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398210.1		-	ENST00000313663.7	Silent	SNP	11 : 73814404 - 73814404 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	546	99
HIST1H2AA	221613	broad.mit.edu	37	6	25726479	25726479	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25726479C>T	ENST00000297012.3	-	1	311	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K		NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	93					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TTATTGAGTTCCTCATCATTG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													301	254	270			NA	NA	6		NA											NA				25726479		2203	4300	6503	SO:0001583	missense			AY131982	CCDS4562.1	6p22.2	2011-01-27	2006-10-11		ENSG00000164508	ENSG00000164508	221613	221613		Histones / Replication-dependent	18729	protein-coding gene	gene with protein product		613499	H2A histone family, member R, histone 1, H2aa		NA	12408966	Standard	NM_170745	NM_170745	NA	Approved	bA317E16.2, H2AFR	uc003nfc.3	Q96QV6	OTTHUMG00000014407	ENST00000297012.3:c.277G>A	6.37:g.25726479C>T	ENSP00000297012:p.Glu93Lys	NA		37	CCDS4562.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.959682	0.34565	.	.	ENSG00000164508	ENST00000297012	T	0.51325	0.71	3.65	2.78	0.32641	Histone-fold (2);Histone H2A (1);	0.000000	0.50627	D	0.000116	T	0.67571	0.2907	H	0.95470	3.675	0.58432	D	0.999998	D	0.76494	0.999	D	0.74023	0.982	T	0.74907	-0.3504	10	0.87932	D	0	.	9.4106	0.38489	0.0:0.8916:0.0:0.1084	.	93	Q96QV6	H2A1A_HUMAN	K	93	ENSP00000297012:E93K	ENSP00000297012:E93K	E	-	1	0	HIST1H2AA	25834458	1.000000	0.71417	0.985000	0.45067	0.003000	0.03518	5.388000	0.66249	1.133000	0.42147	-0.142000	0.14014	GAA	HIST1H2AA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040065.1		-	ENST00000297012.3	Missense_Mutation	SNP	6 : 25726479 - 25726479 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	994	197
ANAPC5	51433	broad.mit.edu	37	12	121757499	121757499	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121757499C>A	ENST00000261819.3	-	13	1759		c.e13+1		ANAPC5_ENST00000344395.4_Splice_Site|ANAPC5_ENST00000541887.1_Splice_Site|ANAPC5_ENST00000544314.1_Splice_Site|ANAPC5_ENST00000535482.1_Splice_Site|ANAPC5_ENST00000441917.2_Splice_Site	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	NA					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGGTTTCTTACCTATAAACAC	0.303		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	12		NA											NA				121757499		2203	4299	6502	SO:0001630	splice_region_variant			AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053	51433	51433		Anaphase promoting complex subunits	15713	protein-coding gene	gene with protein product		606948			NA	9469815	Standard		NM_016237	NA	Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.1637+1G>T	12.37:g.121757499C>A		NA	Q8N4H7|Q9BQD4	37	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680924	0.68042	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1779	0.89767	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANAPC5	120241882	1.000000	0.71417	0.967000	0.41034	0.772000	0.43724	5.608000	0.67654	2.598000	0.87819	0.563000	0.77884	.	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402582.1	Intron	-	ENST00000261819.3	Splice_Site	SNP	12 : 121757499 - 121757499 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	135	33
TMEM86A	144110	broad.mit.edu	37	11	18723381	18723381	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18723381C>T	ENST00000280734.2	+	3	644	c.548C>T	c.(547-549)gCa>gTa	p.A183V		NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	183						integral to membrane				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						GGCAGTGGTGCACTCTTCTTT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	92	98			NA	NA	11		NA											NA				18723381		2199	4293	6492	SO:0001583	missense			BC035692	CCDS7844.1	11p15.1	2005-10-28				ENSG00000151117	144110	144110			26890	protein-coding gene	gene with protein product					NA		Standard	NM_153347	NM_153347	NA	Approved	FLJ90119	uc001moz.1	Q8N2M4		ENST00000280734.2:c.548C>T	11.37:g.18723381C>T	ENSP00000280734:p.Ala183Val	NA	Q96AJ0	37	CCDS7844.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499632	0.64298	.	.	ENSG00000151117	ENST00000535380;ENST00000280734	T	0.38887	1.11	5.43	5.43	0.79202	.	0.054144	0.64402	D	0.000001	T	0.72661	0.3488	M	0.92219	3.285	0.80722	D	1	D	0.63880	0.993	D	0.65323	0.934	T	0.78866	-0.2035	9	.	.	.	-6.7924	19.428	0.94751	0.0:1.0:0.0:0.0	.	183	Q8N2M4	TM86A_HUMAN	V	183	ENSP00000280734:A183V	.	A	+	2	0	TMEM86A	18679957	1.000000	0.71417	0.426000	0.26672	0.055000	0.15305	7.307000	0.78920	2.824000	0.97209	0.655000	0.94253	GCA	TMEM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387812.1		+	ENST00000280734.2	Missense_Mutation	SNP	11 : 18723381 - 18723381 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	466	71
NAB2	4665	broad.mit.edu	37	12	57487215	57487215	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57487215G>A	ENST00000300131.3	+	6	1680	c.1302G>A	c.(1300-1302)acG>acA	p.T434T	NAB2_ENST00000342556.6_Intron|NAB2_ENST00000357680.4_3'UTR	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	434					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CAAGGCTGACGCCGCCCCCTG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	15	14			NA	NA	12		NA											NA				57487215		2186	4281	6467	SO:0001819	synonymous_variant			BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886	4665	4665			7627	protein-coding gene	gene with protein product		602381			NA	8668170, 8649813	Standard	NM_005967	XM_005268894	NA	Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.1302G>A	12.37:g.57487215G>A		NA	B2RAK3|O76006|Q14797	37	CCDS8930.1																																																																																			NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412222.1		+	ENST00000300131.3	Silent	SNP	12 : 57487215 - 57487215 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	89	14
TTC7B	145567	broad.mit.edu	37	14	91211192	91211192	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91211192T>G	ENST00000328459.6	-	4	641	c.520A>C	c.(520-522)Acc>Ccc	p.T174P	TTC7B_ENST00000357056.2_Missense_Mutation_p.T174P	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	174							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				TCATAACAGGTGATGACATCC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	135	141			NA	NA	14		NA											NA				91211192		2203	4300	6503	SO:0001583	missense			BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914	145567	145567		Tetratricopeptide (TTC) repeat domain containing	19858	protein-coding gene	gene with protein product			tetratricopeptide repeat domain 7 like 1	TTC7L1	NA		Standard		XM_005267367	NA	Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.520A>C	14.37:g.91211192T>G	ENSP00000336127:p.Thr174Pro	NA	Q86U24|Q86VT3	37	CCDS32140.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.493788	0.84962	.	.	ENSG00000165914	ENST00000555768;ENST00000357056;ENST00000328459;ENST00000557766	T;T	0.37752	1.86;1.18	5.53	5.53	0.82687	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.32041	0.0816	L	0.52573	1.65	0.58432	D	0.999998	P	0.43094	0.799	B	0.36504	0.226	T	0.08411	-1.0723	10	0.29301	T	0.29	-31.152	14.9498	0.71064	0.0:0.0:0.0:1.0	.	174	Q86TV6	TTC7B_HUMAN	P	72;174;174;72	ENSP00000349564:T174P;ENSP00000336127:T174P	ENSP00000336127:T174P	T	-	1	0	TTC7B	90280945	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.850000	0.62889	2.231000	0.72958	0.460000	0.39030	ACC	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411364.2		-	ENST00000328459.6	Missense_Mutation	SNP	14 : 91211192 - 91211192 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	580	27
ARPC5L	81873	broad.mit.edu	37	9	127639172	127639172	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127639172G>A	ENST00000353214.2	+	6	1667	c.415G>A	c.(415-417)Gga>Aga	p.G139R	ARPC5L_ENST00000465124.1_3'UTR|ARPC5L_ENST00000259477.6_Missense_Mutation_p.G139R			Q9BPX5	ARP5L_HUMAN	actin related protein 2/3 complex, subunit 5-like	139					regulation of actin filament polymerization	cytoplasm|cytoskeleton	actin binding			large_intestine(2)|lung(1)	3						AGCAGTAGGAGGACTAGGCTC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	78	84			NA	NA	9		NA											NA				127639172		2203	4300	6503	SO:0001583	missense			AF087842	CCDS6859.1	9q34.11	2011-07-06			ENSG00000136950	ENSG00000136950	81873	81873		Actin related protein 2/3 complex subunits	23366	protein-coding gene	gene with protein product					NA		Standard	NM_030978	NM_030978	NA	Approved	MGC3038, ARC16-2	uc004bpa.4	Q9BPX5	OTTHUMG00000020660	ENST00000353214.2:c.415G>A	9.37:g.127639172G>A	ENSP00000345361:p.Gly139Arg	NA	Q7Z523	37	CCDS6859.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599791	0.87055	.	.	ENSG00000136950	ENST00000353214;ENST00000259477	.	.	.	5.93	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.85843	0.5791	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89478	0.3748	9	0.87932	D	0	-13.7536	14.1836	0.65590	0.0713:0.0:0.9287:0.0	.	139	Q9BPX5	ARP5L_HUMAN	R	139	.	ENSP00000259477:G139R	G	+	1	0	ARPC5L	126678993	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.117000	0.94347	1.520000	0.48965	0.655000	0.94253	GGA	ARPC5L-002	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054041.1		+	ENST00000353214.2	Missense_Mutation	SNP	9 : 127639172 - 127639172 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	316	62
HCN1	348980	broad.mit.edu	37	5	45262699	45262699	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:45262699G>A	ENST00000303230.4	-	8	2054	c.1997C>T	c.(1996-1998)cCg>cTg	p.P666L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	666						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGTGTACACCGGTGGAGATTG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	149	150			NA	NA	5		NA											NA				45262699		2203	4300	6503	SO:0001583	missense			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588	348980	348980		Voltage-gated ion channels / Cyclic nucleotide-regulated channels	4845	protein-coding gene	gene with protein product		602780		BCNG1	NA	9405696, 9630217, 16382102	Standard	NM_021072	NM_021072	NA	Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1997C>T	5.37:g.45262699G>A	ENSP00000307342:p.Pro666Leu	NA		37	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906252	0.33628	.	.	ENSG00000164588	ENST00000303230	D	0.97404	-4.37	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000009	D	0.94928	0.8360	L	0.44542	1.39	0.58432	D	0.999998	B	0.20988	0.05	B	0.12837	0.008	D	0.92028	0.5631	10	0.28530	T	0.3	.	19.1659	0.93557	0.0:0.0:1.0:0.0	.	666	O60741	HCN1_HUMAN	L	666	ENSP00000307342:P666L	ENSP00000307342:P666L	P	-	2	0	HCN1	45298456	0.632000	0.27172	0.938000	0.37757	0.722000	0.41435	2.974000	0.49272	2.528000	0.85240	0.563000	0.77884	CCG	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253847.1		-	ENST00000303230.4	Missense_Mutation	SNP	5 : 45262699 - 45262699 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	408	78
OBSCN	84033	broad.mit.edu	37	1	228459771	228459771	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228459771C>T	ENST00000570156.2	+	20	5909	c.5835C>T	c.(5833-5835)gaC>gaT	p.D1945D	OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000359599.6_Silent_p.D417D|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366709.4_Intron|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000422127.1_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	926	Ig-like 19.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGTACAAGGACGGGAAGAAGC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	80	82			NA	NA	1		NA											NA				228459771		876	1991	2867	SO:0001819	synonymous_variant			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358	84033	84033		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	15719	protein-coding gene	gene with protein product		608616			NA	11448995, 11814696	Standard	NM_052843	NM_001098623	NA	Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000570156.2:c.5835C>T	1.37:g.228459771C>T		NA	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	37	CCDS59204.1																																																																																			OBSCN-011	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421354.3		+	ENST00000570156.2	Silent	SNP	1 : 228459771 - 228459771 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	71
CACNB2	783	broad.mit.edu	37	10	18823122	18823122	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18823122C>A	ENST00000396576.2	+	10	1508	c.1007C>A	c.(1006-1008)cCt>cAt	p.P336H	CACNB2_ENST00000377315.4_Missense_Mutation_p.P343H|CACNB2_ENST00000377329.4_Missense_Mutation_p.P337H|CACNB2_ENST00000352115.6_Missense_Mutation_p.P367H|CACNB2_ENST00000377319.3_Missense_Mutation_p.P298H|CACNB2_ENST00000282343.8_Missense_Mutation_p.P363H|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000324631.7_Missense_Mutation_p.P391H|CACNB2_ENST00000377331.2_Missense_Mutation_p.P339H|CACNB2_ENST00000377328.1_Intron	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	391					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCCTTGGCCCCTATTATAGTA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	110	107			NA	NA	10		NA											NA				18823122		2203	4300	6503	SO:0001583	missense			U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995	783	783		Calcium channel subunits	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2	NA	9254841, 8494331	Standard	NM_000724	NM_201596	NA	Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000396576.2:c.1007C>A	10.37:g.18823122C>A	ENSP00000379821:p.Pro336His	NA	A6PVM5|A6PVM8|O00304|Q5VVG9|Q5VVH0|Q5VWV6|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	37	CCDS7128.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.972435	0.92919	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	T;T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5	5.54	5.54	0.83059	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	T	0.79879	0.4522	M	0.91561	3.22	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.84208	0.0454	10	0.87932	D	0	-15.9416	19.4818	0.95013	0.0:1.0:0.0:0.0	.	305;363;343;313;337;347;298;339;363;353;367;391	B7Z1U5;Q5QJA0;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	H	391;367;363;339;336;298;337;343	ENSP00000320025:P391H;ENSP00000344474:P367H;ENSP00000282343:P363H;ENSP00000366548:P339H;ENSP00000379821:P336H;ENSP00000366536:P298H;ENSP00000366546:P337H;ENSP00000366532:P343H	ENSP00000282343:P363H	P	+	2	0	CACNB2	18863128	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.814000	0.86154	2.590000	0.87494	0.557000	0.71058	CCT	CACNB2-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047074.2		+	ENST00000396576.2	Missense_Mutation	SNP	10 : 18823122 - 18823122 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	819	119
OR1L8	138881	broad.mit.edu	37	9	125329904	125329904	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125329904G>T	ENST00000304865.2	-	1	934	c.853C>A	c.(853-855)Ctc>Atc	p.L285I		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AAAGGATTGAGCATGGATGAC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	101	101			NA	NA	9		NA											NA				125329904		2203	4300	6503	SO:0001583	missense				CCDS35124.1	9q33.2	2013-09-20			ENSG00000171496	ENSG00000171496	138881	138881		GPCR / Class A : Olfactory receptors	15110	protein-coding gene	gene with protein product					NA		Standard		NM_001004454	NA	Approved		uc004bmp.1	Q8NGR8	OTTHUMG00000020609	ENST00000304865.2:c.853C>A	9.37:g.125329904G>T	ENSP00000306607:p.Leu285Ile	NA	A3KFM3|B9EIR6|Q6IF15|Q96R79	37	CCDS35124.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326989	0.60743	.	.	ENSG00000171496	ENST00000304865	T	0.44083	0.93	4.64	0.718	0.18202	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36628	N	0.002482	T	0.60689	0.2288	M	0.87456	2.885	0.26209	N	0.979325	D	0.69078	0.997	P	0.62491	0.903	T	0.55166	-0.8183	10	0.87932	D	0	-11.3452	9.2539	0.37571	0.3358:0.0:0.6642:0.0	.	285	Q8NGR8	OR1L8_HUMAN	I	285	ENSP00000306607:L285I	ENSP00000306607:L285I	L	-	1	0	OR1L8	124369725	0.000000	0.05858	0.905000	0.35620	0.963000	0.63663	-0.518000	0.06267	0.304000	0.22809	0.449000	0.29647	CTC	OR1L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053939.1		-	ENST00000304865.2	Missense_Mutation	SNP	9 : 125329904 - 125329904 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	657	97
KIF2B	84643	broad.mit.edu	37	17	51901512	51901512	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:51901512A>T	ENST00000268919.4	+	1	1274	c.1118A>T	c.(1117-1119)aAg>aTg	p.K373M		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	373	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGGAAGAAGAAGCTGCAAGTC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	111	115			NA	NA	17		NA											NA				51901512		2203	4300	6503	SO:0001583	missense			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200	84643	84643		Kinesins	29443	protein-coding gene	gene with protein product		615142			NA	11416179	Standard	NM_032559	NM_032559	NA	Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1118A>T	17.37:g.51901512A>T	ENSP00000268919:p.Lys373Met	NA	Q96MA2|Q9BXG6	37	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	A	16.36	3.101980	0.56183	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.76316	-1.01	5.67	4.58	0.56647	Kinesin, motor domain (4);	0.141109	0.32028	N	0.006692	T	0.78033	0.4220	M	0.74258	2.255	0.41685	D	0.989313	B	0.32365	0.367	B	0.39771	0.309	T	0.79569	-0.1749	10	0.62326	D	0.03	.	7.866	0.29537	0.8597:0.0:0.1403:0.0	.	373	Q8N4N8	KIF2B_HUMAN	M	373;261	ENSP00000268919:K373M	ENSP00000268919:K373M	K	+	2	0	KIF2B	49256511	0.016000	0.18221	0.982000	0.44146	0.928000	0.56348	2.351000	0.44071	2.275000	0.75901	0.533000	0.62120	AAG	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438854.1		+	ENST00000268919.4	Missense_Mutation	SNP	17 : 51901512 - 51901512 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	490	77
TRAP1	10131	broad.mit.edu	37	16	3724437	3724437	+	Missense_Mutation	SNP	C	C	T	rs151069865		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3724437C>T	ENST00000575671.1	-	4	1049	c.320G>A	c.(319-321)cGc>cAc	p.R107H	TRAP1_ENST00000246957.5_Missense_Mutation_p.R316H|TRAP1_ENST00000573872.1_5'UTR|TRAP1_ENST00000538171.1_Missense_Mutation_p.R263H			Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	316					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				CGCGACGTAGCGGTAGAACTC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG	2,4392	4.2+/-10.8	0,2,2195	190	110	137		947	5.8	1	16	dbSNP_134	137	0,8600		0,0,4300	no	missense	TRAP1	NM_016292.2	29	0,2,6495	TT,TC,CC	NA	0.0,0.0455,0.0154	probably-damaging	316/705	3724437	2,12992	2197	4300	6497	SO:0001583	missense			AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602	10131	10131		Heat shock proteins / HSPC	16264	protein-coding gene	gene with protein product		606219			NA	10652318, 7876093	Standard	NM_016292	NM_016292	NA	Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000575671.1:c.320G>A	16.37:g.3724437C>T	ENSP00000458166:p.Arg107His	NA	D3DUC8|O43642|O75235|Q9UHL5	37		.	.	.	.	.	.	.	.	.	.	C	20.5	4.000810	0.74818	4.55E-4	0.0	ENSG00000126602	ENST00000246957;ENST00000538171	T;T	0.09630	2.96;2.96	5.82	5.82	0.92795	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.85682	D	0.000000	T	0.29914	0.0748	M	0.65677	2.01	0.80722	D	1	P;P	0.51449	0.933;0.945	P;P	0.57324	0.586;0.818	T	0.00198	-1.1929	10	0.72032	D	0.01	-28.6882	19.0936	0.93240	0.0:1.0:0.0:0.0	.	263;316	F5H897;Q12931	.;TRAP1_HUMAN	H	316;263	ENSP00000246957:R316H;ENSP00000442070:R263H	ENSP00000246957:R316H	R	-	2	0	TRAP1	3664438	1.000000	0.71417	1.000000	0.80357	0.075000	0.17131	7.424000	0.80242	2.757000	0.94681	0.655000	0.94253	CGC	TRAP1-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000438777.1		-	ENST00000575671.1	Missense_Mutation	SNP	16 : 3724437 - 3724437 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	260	34
DIDO1	11083	broad.mit.edu	37	20	61525105	61525105	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61525105G>T	ENST00000266070.4	-	12	3339	c.3014C>A	c.(3013-3015)tCt>tAt	p.S1005Y	DIDO1_ENST00000395343.1_Missense_Mutation_p.S1005Y|DIDO1_ENST00000395340.1_Missense_Mutation_p.S1005Y|DIDO1_ENST00000395335.2_Missense_Mutation_p.S1005Y	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1005					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CACCATCACAGAAGTCAAGAC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)							NA				0													127	105	112			NA	NA	20		NA											NA				61525105		2203	4300	6503	SO:0001583	missense			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191	11083	11083		Zinc fingers, PHD-type	2680	protein-coding gene	gene with protein product		604140	chromosome 20 open reading frame 158, death associated transcription factor 1	C20orf158, DATF1	NA	10393935	Standard	NM_080796	NM_033081	NA	Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3014C>A	20.37:g.61525105G>T	ENSP00000266070:p.Ser1005Tyr	NA	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	37	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297133	0.60086	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.12672	3.01;3.01;2.66;2.66	5.95	5.95	0.96441	.	0.429288	0.17073	U	0.188086	T	0.26412	0.0645	L	0.57536	1.79	0.09310	N	1	D;D	0.59767	0.986;0.976	P;P	0.54100	0.742;0.556	T	0.11372	-1.0590	10	0.72032	D	0.01	-18.7404	12.7851	0.57500	0.0:0.0:0.8365:0.1635	.	1005;1005	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	Y	1005	ENSP00000266070:S1005Y;ENSP00000378752:S1005Y;ENSP00000378749:S1005Y;ENSP00000378744:S1005Y	ENSP00000266070:S1005Y	S	-	2	0	DIDO1	60995550	0.273000	0.24181	0.008000	0.14137	0.001000	0.01503	3.724000	0.54962	2.824000	0.97209	0.655000	0.94253	TCT	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080091.2		-	ENST00000266070.4	Missense_Mutation	SNP	20 : 61525105 - 61525105 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	630	111
ZNF732	654254	broad.mit.edu	37	4	265610	265610	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:265610A>G	ENST00000419098.1	-	4	1046	c.1036T>C	c.(1036-1038)Tcc>Ccc	p.S346P		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						AGAACTGAGGACCTACTAAAG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	44	45			NA	NA	4		NA											NA				265610		692	1591	2283	SO:0001583	missense			AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777	654254	654254		Zinc fingers, C2H2-type, -	37138	protein-coding gene	gene with protein product					NA		Standard	NM_001137608	NM_001137608	NA	Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.1036T>C	4.37:g.265610A>G	ENSP00000415774:p.Ser346Pro	NA		37	CCDS46990.1	.	.	.	.	.	.	.	.	.	.	A	5.439	0.266147	0.10294	.	.	ENSG00000186777	ENST00000419098	T	0.36699	1.24	0.977	-1.33	0.09172	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43787	0.1263	L	0.50919	1.6	0.09310	N	1	D	0.71674	0.998	D	0.77557	0.99	T	0.32402	-0.9908	9	0.33940	T	0.23	.	3.3896	0.07283	0.4025:0.0:0.0:0.5975	.	346	B4DXR9	ZN732_HUMAN	P	346	ENSP00000415774:S346P	ENSP00000415774:S346P	S	-	1	0	ZNF732	255610	0.000000	0.05858	0.095000	0.20976	0.087000	0.18053	-0.790000	0.04604	0.338000	0.23692	0.329000	0.21502	TCC	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357937.2		-	ENST00000419098.1	Missense_Mutation	SNP	4 : 265610 - 265610 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	178	32
MYO18A	399687	broad.mit.edu	37	17	27448960	27448960	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27448960G>T	ENST00000527372.1	-	4	1283	c.1103C>A	c.(1102-1104)tCt>tAt	p.S368Y	MYO18A_ENST00000531253.1_Missense_Mutation_p.S368Y|MYO18A_ENST00000533112.1_Missense_Mutation_p.S368Y|MYO18A_ENST00000354329.4_Missense_Mutation_p.S368Y	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	368					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GAGCTCCTCAGATTTGAGTTG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(182;472 2015 7001 15270 22562)							NA				0													88	90	89			NA	NA	17		NA											NA				27448960		2077	4209	6286	SO:0001583	missense			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535	399687	399687		Myosins / Myosin superfamily : Class XVIII	31104	protein-coding gene	gene with protein product		610067			NA	12761286	Standard	NM_078471	NM_078471	NA	Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.1103C>A	17.37:g.27448960G>T	ENSP00000437073:p.Ser368Tyr	NA	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	37	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221731	0.79464	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000531686	D;D;D;D	0.89123	-2.36;-2.47;-2.36;-2.36	5.64	5.64	0.86602	.	0.052624	0.85682	D	0.000000	D	0.87748	0.6255	L	0.40543	1.245	0.48632	D	0.999683	P;D;D;D	0.54964	0.837;0.969;0.969;0.958	P;P;P;B	0.46110	0.504;0.461;0.461;0.362	D	0.89266	0.3601	10	0.87932	D	0	.	18.4752	0.90790	0.0:0.0:1.0:0.0	.	37;368;368;368	Q92614-2;Q92614-3;Q92614-4;Q92614	.;.;.;MY18A_HUMAN	Y	368;368;368;368;368;48	ENSP00000346291:S368Y;ENSP00000435932:S368Y;ENSP00000434228:S368Y;ENSP00000437073:S368Y	ENSP00000346291:S368Y	S	-	2	0	MYO18A	24473086	1.000000	0.71417	0.929000	0.37066	0.963000	0.63663	5.170000	0.64990	2.655000	0.90218	0.655000	0.94253	TCT	MYO18A-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389396.1		-	ENST00000527372.1	Missense_Mutation	SNP	17 : 27448960 - 27448960 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	470	40
TECPR2	9895	broad.mit.edu	37	14	102901147	102901147	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102901147C>T	ENST00000359520.7	+	9	2219	c.1993C>T	c.(1993-1995)Cct>Tct	p.P665S	TECPR2_ENST00000558678.1_Missense_Mutation_p.P665S	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	665							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						ACAGTGGCTGCCTGGGACCAG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	27	26			NA	NA	14		NA											NA				102901147		2202	4300	6502	SO:0001583	missense			AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663	9895	9895			19957	protein-coding gene	gene with protein product		615000	KIAA0329	KIAA0329	NA	9205841	Standard	NM_014844	NM_014844	NA	Approved		uc001ylw.2	O15040		ENST00000359520.7:c.1993C>T	14.37:g.102901147C>T	ENSP00000352510:p.Pro665Ser	NA	A6NFY9|A7E2X3|Q9UEG6	37	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393809	0.42410	.	.	ENSG00000196663	ENST00000359520	T	0.13778	2.56	5.46	4.52	0.55395	.	0.643972	0.12979	N	0.423492	T	0.09949	0.0244	L	0.27053	0.805	0.09310	N	1	P;P	0.36048	0.534;0.534	B;B	0.34138	0.176;0.176	T	0.17379	-1.0371	9	.	.	.	.	10.1963	0.43056	0.1591:0.7047:0.1362:0.0	.	665;665	A5PKY3;O15040	.;TCPR2_HUMAN	S	665	ENSP00000352510:P665S	.	P	+	1	0	TECPR2	101970900	0.000000	0.05858	0.010000	0.14722	0.110000	0.19582	0.082000	0.14847	2.576000	0.86940	0.555000	0.69702	CCT	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415056.2		+	ENST00000359520.7	Missense_Mutation	SNP	14 : 102901147 - 102901147 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	214	30
MTHFR	4524	broad.mit.edu	37	1	11860309	11860309	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11860309G>A	ENST00000376592.1	-	3	674	c.546C>T	c.(544-546)atC>atT	p.I182I	MTHFR_ENST00000376590.3_Silent_p.I182I|MTHFR_ENST00000376585.1_Silent_p.I223I|MTHFR_ENST00000376583.3_Silent_p.I223I			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	182					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	ACTCACTTCGGATGTGCTTCA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													369	278	309			NA	NA	1		NA											NA				11860309		2203	4300	6503	SO:0001819	synonymous_variant			BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	4524	4524	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	5,10-methylenetetrahydrofolate reductase (NADPH)		NA	7920641	Standard	NM_005957	NM_005957	NA	Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.546C>T	1.37:g.11860309G>A		NA	B2R7A6|Q5SNW9|Q7Z6M6|Q9UQR2	37	CCDS137.1																																																																																			MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006538.1		-	ENST00000376592.1	Silent	SNP	1 : 11860309 - 11860309 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	857	161
NCAPD2	9918	broad.mit.edu	37	12	6618917	6618917	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6618917G>A	ENST00000315579.5	+	3	961	c.162G>A	c.(160-162)ctG>ctA	p.L54L	NCAPD2_ENST00000545962.1_Nonsense_Mutation_p.W29*	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	54	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						AGGGGCCCCTGGCTATGCTGC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	161	160			NA	NA	12		NA											NA				6618917		2203	4300	6503	SO:0001819	synonymous_variant			D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292	9918	9918			24305	protein-coding gene	gene with protein product	chromosome condensation related SMC associated protein 1	615638			NA	8590280, 10958694	Standard	NM_014865	NM_014865	NA	Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.162G>A	12.37:g.6618917G>A		NA	D3DUR4|Q8N6U3	37	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499784	0.44455	.	.	ENSG00000010292	ENST00000545962	.	.	.	5.41	-0.64	0.11493	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.9232	4.2976	0.10910	0.0708:0.1993:0.3311:0.3987	.	.	.	.	X	29	.	.	W	+	2	0	NCAPD2	6489178	0.999000	0.42202	0.948000	0.38648	0.289000	0.27227	0.731000	0.26058	0.204000	0.20548	0.555000	0.69702	TGG	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399964.1		+	ENST00000315579.5	Silent	SNP	12 : 6618917 - 6618917 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1161	53
PRSS45	377047	broad.mit.edu	37	3	46783961	46783961	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46783961C>T	ENST00000442359.2	-	4	565	c.566G>A	c.(565-567)cGc>cAc	p.R189H	PRSS50_ENST00000460241.1_Intron	NM_199183.2	NP_954652.2	Q7RTY3	PRS45_HUMAN	protease, serine, 45	221	Peptidase S1.				proteolysis		serine-type endopeptidase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						TTTGGTGATGCGGGTGTACAC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													208	259	242			NA	NA	3		NA											NA				46783961		2088	4222	6310	SO:0001583	missense				CCDS46815.1	3p21.31	2010-05-07			ENSG00000188086	ENSG00000188086	377047	377047		Serine peptidases / Serine peptidases	30717	protein-coding gene	gene with protein product	testis serine protease 5				NA	12838346	Standard	NM_199183	NM_199183	NA	Approved	TESSP5	uc010hjl.3	Q7RTY3	OTTHUMG00000133480	ENST00000442359.2:c.566G>A	3.37:g.46783961C>T	ENSP00000401932:p.Arg189His	NA	A3KN77	37	CCDS46815.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.567868	0.45798	.	.	ENSG00000188086	ENST00000331814;ENST00000442359	D	0.94687	-3.49	5.65	4.76	0.60689	.	0.000000	0.56097	D	0.000025	D	0.96396	0.8824	.	.	.	0.09310	N	0.999991	D	0.89917	1.0	D	0.69307	0.963	D	0.91431	0.5166	9	0.56958	D	0.05	.	11.7851	0.52037	0.175:0.825:0.0:0.0	.	189	Q7RTY3-2	.	H	221;189	ENSP00000401932:R189H	ENSP00000330940:R221H	R	-	2	0	PRSS45	46758965	0.763000	0.28462	0.032000	0.17829	0.266000	0.26442	1.946000	0.40283	1.602000	0.50124	0.655000	0.94253	CGC	PRSS45-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354558.1		-	ENST00000442359.2	Missense_Mutation	SNP	3 : 46783961 - 46783961 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	656	167
VAV1	7409	broad.mit.edu	37	19	6828154	6828154	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6828154G>A	ENST00000304076.2	+	10	1089	c.995G>A	c.(994-996)cGa>cAa	p.R332Q	VAV1_ENST00000596764.1_Missense_Mutation_p.R300Q|VAV1_ENST00000599806.1_Missense_Mutation_p.R277Q|VAV1_ENST00000602142.1_Missense_Mutation_p.R332Q|VAV1_ENST00000539284.1_Missense_Mutation_p.R235Q	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	332	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCTATGCAGCGAGTTCTCAAA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	75	79			NA	NA	19		NA											NA				6828154		2203	4300	6503	SO:0001583	missense				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968	7409	7409		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing, SH2 domain containing	12657	protein-coding gene	gene with protein product		164875	vav 1 oncogene	VAV	NA	9438848	Standard		NM_005428	NA	Approved		uc010xjh.2	P15498		ENST00000304076.2:c.995G>A	19.37:g.6828154G>A	ENSP00000302269:p.Arg332Gln	NA	Q15860	37	CCDS59341.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235768	0.79800	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;D	0.87729	-0.27;-2.29	4.5	4.5	0.54988	Guanine-nucleotide dissociation stimulator, CDC24, conserved site (1);Dbl homology (DH) domain (5);	0.000000	0.64402	D	0.000001	D	0.95338	0.8487	H	0.96048	3.76	0.80722	D	1	D;D;D;D	0.89917	0.98;0.999;0.998;1.0	P;P;D;D	0.74348	0.676;0.894;0.983;0.983	D	0.96788	0.9580	10	0.87932	D	0	.	14.7102	0.69225	0.0:0.0:1.0:0.0	.	235;332;277;332	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	Q	332;235	ENSP00000302269:R332Q;ENSP00000443242:R235Q	ENSP00000302269:R332Q	R	+	2	0	VAV1	6779154	1.000000	0.71417	0.980000	0.43619	0.390000	0.30446	9.064000	0.93933	2.076000	0.62316	0.462000	0.41574	CGA	VAV1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458474.1		+	ENST00000304076.2	Missense_Mutation	SNP	19 : 6828154 - 6828154 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	297	43
ZNF534	147658	broad.mit.edu	37	19	52941324	52941324	+	Missense_Mutation	SNP	G	G	A	rs151189562	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52941324G>A	ENST00000301085.4	+	4	396				ZNF534_ENST00000433050.1_Missense_Mutation_p.R204H|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000332323.6_Missense_Mutation_p.R217H			Q76KX8	ZN534_HUMAN	zinc finger protein 534	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CTTACTAACCGTCAAGTAATC	0.388		NA											g	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	4e-04	0.95	LOWCOV,EXOME	NA	NA	7e-04	SNP								NA				0								G	HIS/ARG,HIS/ARG	2,3134		0,2,1566	102	90	94		611,650	0.5	0	19	dbSNP_134	94	0,7164		0,0,3582	no	missense,missense	ZNF534	NM_001143938.1,NM_001143939.1	29,29	0,2,5148	AA,AG,GG	NA	0.0,0.0638,0.0194	benign,benign	204/662,217/675	52941324	2,10298	1568	3582	5150	SO:0001627	intron_variant			AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633	147658	147658		Zinc fingers, C2H2-type, -	26337	protein-coding gene	gene with protein product			KRAB domain only 3	KRBO3	NA		Standard	NM_182512	NM_001143938	NA	Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000301085.4:c.271+2862G>A	19.37:g.52941324G>A		NA	Q76KX9	37		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	0.005	-2.209788	0.00292	6.38E-4	0.0	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.04551	3.6;3.6	1.63	0.516	0.17019	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00552	0.0018	N	0.00005	-3.265	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45977	-0.9224	9	0.02654	T	1	.	3.1434	0.06463	0.5952:0.2428:0.162:0.0	.	204;217	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	H	217;204;216	ENSP00000327538:R217H;ENSP00000391358:R204H	ENSP00000327538:R217H	R	+	2	0	ZNF534	57633136	0.249000	0.23941	0.001000	0.08648	0.001000	0.01503	1.750000	0.38329	-0.089000	0.12484	-0.606000	0.04082	CGT	ZNF534-001	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000344335.1		+	ENST00000301085.4	Intron	SNP	19 : 52941324 - 52941324 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	250	69
PCDH19	57526	broad.mit.edu	37	X	99657821	99657821	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:99657821T>G	ENST00000373034.4	-	3	3992	c.2317A>C	c.(2317-2319)Aag>Cag	p.K773Q	PCDH19_ENST00000255531.7_Missense_Mutation_p.K726Q|PCDH19_ENST00000420881.2_Missense_Mutation_p.K726Q	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	773					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CTTGATTTCTTTTGATGCCCA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	116	125			NA	NA	X		NA											NA				99657821		1893	4118	6011	SO:0001583	missense			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194	57526	57526		Cadherins / Protocadherins : Non-clustered	14270	protein-coding gene	gene with protein product		300460	epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)	EFMR	NA	11549318, 18469813, 19752159	Standard	NM_020766	NM_020766	NA	Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.2317A>C	X.37:g.99657821T>G	ENSP00000362125:p.Lys773Gln	NA	B0LDS4|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	37	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	t	14.05	2.419309	0.42918	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.53206	0.65;0.63;0.65	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.56396	0.1982	L	0.36672	1.1	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.78314	0.991;0.966;0.925	T	0.50338	-0.8840	10	0.12103	T	0.63	.	15.3292	0.74193	0.0:0.0:0.0:1.0	.	773;726;726	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	Q	726;773;726	ENSP00000400327:K726Q;ENSP00000362125:K773Q;ENSP00000255531:K726Q	ENSP00000255531:K726Q	K	-	1	0	PCDH19	99544477	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.721000	0.68477	2.004000	0.58718	0.478000	0.44815	AAG	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057479.2		-	ENST00000373034.4	Missense_Mutation	SNP	X : 99657821 - 99657821 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	216	49
KDM4D	55693	broad.mit.edu	37	11	94732006	94732006	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94732006C>A	ENST00000335080.5	+	3	2302	c.1470C>A	c.(1468-1470)ccC>ccA	p.P490P	KDM4D_ENST00000536741.1_Silent_p.P490P	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	490					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AACCTGAGCCCCTACCTGAGG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	28	27			NA	NA	11		NA											NA				94732006		2201	4298	6499	SO:0001819	synonymous_variant			AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280	55693	55693		Chromatin-modifying enzymes / K-demethylases	25498	protein-coding gene	gene with protein product		609766	jumonji domain containing 2D	JMJD2D	NA	15138608	Standard	NM_018039	NM_018039	NA	Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.1470C>A	11.37:g.94732006C>A		NA	B3KPC4|Q0VF39|Q9NT41|Q9NW76	37	CCDS8302.1																																																																																			KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396558.2		+	ENST00000335080.5	Silent	SNP	11 : 94732006 - 94732006 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	246	48
ZNF510	22869	broad.mit.edu	37	9	99521177	99521177	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99521177T>C	ENST00000375231.1	-	6	2585	c.1935A>G	c.(1933-1935)atA>atG	p.I645M	ZNF510_ENST00000223428.4_Missense_Mutation_p.I645M			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	645					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TCCTTTGATGTATTCTGAGGT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	110	107			NA	NA	9		NA											NA				99521177		2202	4300	6502	SO:0001583	missense			AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386	22869	22869		Zinc fingers, C2H2-type, -	29161	protein-coding gene	gene with protein product					NA	10231032	Standard	NM_014930	XM_005251807	NA	Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.1935A>G	9.37:g.99521177T>C	ENSP00000364379:p.Ile645Met	NA		37	CCDS35074.1	.	.	.	.	.	.	.	.	.	.	T	12.55	1.970517	0.34754	.	.	ENSG00000081386	ENST00000375231;ENST00000223428	T;T	0.18016	2.24;2.24	3.02	3.02	0.34903	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14270	0.0345	L	0.35249	1.045	0.09310	N	0.999997	P	0.46277	0.875	P	0.44732	0.459	T	0.10660	-1.0620	9	0.45353	T	0.12	.	5.6042	0.17371	0.2439:0.0:0.0:0.7561	.	645	Q9Y2H8	ZN510_HUMAN	M	645	ENSP00000364379:I645M;ENSP00000223428:I645M	ENSP00000223428:I645M	I	-	3	3	ZNF510	98560998	0.000000	0.05858	0.895000	0.35142	0.902000	0.53008	-1.884000	0.01622	1.613000	0.50231	0.533000	0.62120	ATA	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053287.1		-	ENST00000375231.1	Missense_Mutation	SNP	9 : 99521177 - 99521177 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	841	153
CXorf67	340602	broad.mit.edu	37	X	51150656	51150656	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:51150656C>T	ENST00000342995.2	+	1	890	c.788C>T	c.(787-789)gCg>gTg	p.A263V						chromosome X open reading frame 67	NA										breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						CCTGAATCTGCGCCAGGCCCT	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	11	11			NA	NA	X		NA											NA				51150656		2189	4257	6446	SO:0001583	missense			BC046248		Xp11.22	2014-04-30			ENSG00000187690	ENSG00000187690	340602	340602			33738	protein-coding gene	gene with protein product					NA	23959973	Standard	NM_203407	XR_113306	NA	Approved			Q86X51	OTTHUMG00000187481	ENST00000342995.2:c.788C>T	X.37:g.51150656C>T	ENSP00000342680:p.Ala263Val	NA		37		.	.	.	.	.	.	.	.	.	.	c	11.47	1.648956	0.29336	.	.	ENSG00000187690	ENST00000342995	T	0.46063	0.88	3.4	-6.64	0.01801	.	1.040720	0.07697	N	0.939712	T	0.18635	0.0447	.	.	.	0.09310	N	1	P	0.51791	0.948	B	0.39258	0.295	T	0.14587	-1.0467	9	0.19590	T	0.45	3.1865	3.712	0.08423	0.4469:0.1354:0.3311:0.0866	.	263	Q86X51	CX067_HUMAN	V	263	ENSP00000342680:A263V	ENSP00000342680:A263V	A	+	2	0	CXorf67	51167396	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-3.542000	0.00436	-1.895000	0.01104	0.431000	0.28591	GCG	CXorf67-201	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding			+	ENST00000342995.2	Missense_Mutation	SNP	X : 51150656 - 51150656 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	73	26
TTN	7273	broad.mit.edu	37	2	179575601	179575601	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179575601G>T	ENST00000589042.1	-	98	28447	c.28223C>A	c.(28222-28224)gCt>gAt	p.A9408D	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A8164D|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A9091D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9091	Ig-like 77.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A8164V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCCACCACAGCATCCACAGG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											92	89	90			NA	NA	2		NA											NA				179575601		2001	4165	6166	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.28223C>A	2.37:g.179575601G>T	ENSP00000467141:p.Ala9408Asp	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.176958	0.38413	.	.	ENSG00000155657	ENST00000342992	T	0.70045	-0.45	6.06	4.24	0.50183	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74928	0.3781	M	0.86268	2.805	0.80722	D	1	P	0.51933	0.949	P	0.52386	0.697	T	0.78006	-0.2373	9	0.87932	D	0	.	7.2784	0.26297	0.2053:0.1317:0.663:0.0	.	9091	Q8WZ42	TITIN_HUMAN	D	8164	ENSP00000343764:A8164D	ENSP00000343764:A8164D	A	-	2	0	TTN	179283846	0.982000	0.34865	0.997000	0.53966	0.980000	0.70556	2.270000	0.43355	1.565000	0.49641	0.655000	0.94253	GCT	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179575601 - 179575601 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	494	69
CHST2	9435	broad.mit.edu	37	3	142840749	142840749	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142840749A>G	ENST00000309575.3	+	2	2475	c.1091A>G	c.(1090-1092)cAc>cGc	p.H364R		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	364					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CCGCGAGCTCACCGCATGCCC	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	24	23			NA	NA	3		NA											NA				142840749		2201	4293	6494	SO:0001583	missense			BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040	9435	9435		Sulfotransferases, membrane-bound	1970	protein-coding gene	gene with protein product		603798			NA	10049591	Standard	NM_004267	NM_004267	NA	Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.1091A>G	3.37:g.142840749A>G	ENSP00000307911:p.His364Arg	NA	D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	37	CCDS3129.1	.	.	.	.	.	.	.	.	.	.	A	7.906	0.735448	0.15574	.	.	ENSG00000175040	ENST00000309575	D	0.96073	-3.9	4.47	4.47	0.54385	Sulfotransferase domain (1);	0.077814	0.51477	D	0.000090	D	0.84520	0.5490	N	0.02802	-0.49	0.40449	D	0.980125	B	0.06786	0.001	B	0.09377	0.004	T	0.79374	-0.1830	10	0.10636	T	0.68	-0.7931	8.6097	0.33795	0.9136:0.0:0.0864:0.0	.	364	Q9Y4C5	CHST2_HUMAN	R	364	ENSP00000307911:H364R	ENSP00000307911:H364R	H	+	2	0	CHST2	144323439	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	7.052000	0.76634	1.882000	0.54519	0.334000	0.21626	CAC	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354850.1		+	ENST00000309575.3	Missense_Mutation	SNP	3 : 142840749 - 142840749 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	243	10
BOD1L1	259282	broad.mit.edu	37	4	13602068	13602068	+	Silent	SNP	G	G	A	rs139854434	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13602068G>A	ENST00000040738.5	-	10	6591	c.6456C>T	c.(6454-6456)ttC>ttT	p.F2152F		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	2152							DNA binding	p.F2152F(1)			NA						TAGGCAATTCGAATTCTTCCC	0.493		NA											G	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	9e-04	SNP								NA				1	Substitution - coding silent(1)	endometrium(1)											86	75	79			NA	NA	4		NA											NA				13602068		2203	4300	6503	SO:0001819	synonymous_variant			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219	259282	259282			31792	protein-coding gene	gene with protein product			family with sequence similarity 44, member A, biorientation of chromosomes in cell division 1-like	FAM44A, BOD1L	NA		Standard	NM_148894	XM_005248150	NA	Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.6456C>T	4.37:g.13602068G>A		NA	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	37	CCDS3411.2																																																																																			BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207321.1		-	ENST00000040738.5	Silent	SNP	4 : 13602068 - 13602068 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	48
MAP2K2	5605	broad.mit.edu	37	19	4099233	4099233	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4099233C>T	ENST00000262948.5	-	7	1138	c.885G>A	c.(883-885)tcG>tcA	p.S295S	MAP2K2_ENST00000394867.4_Silent_p.S198S	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	295	Pro-rich.|Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|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	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				NA		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGGCCGAGGCGAGATGCTGT	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4375		0,1,2187	13	15	14		885	-8.9	0.6	19		14	0,8582		0,0,4291	no	coding-synonymous	MAP2K2	NM_030662.3		0,1,6478	TT,TC,CC	NA	0.0,0.0229,0.0077		295/401	4099233	1,12957	2188	4291	6479	SO:0001819	synonymous_variant			L11285	CCDS12120.1	19p13.3	2014-09-17			ENSG00000126934	ENSG00000126934	5605	5605	2.7.12.2	Mitogen-activated protein kinase cascade / Kinase kinases	6842	protein-coding gene	gene with protein product		601263		PRKMK2	NA	8388392	Standard		NM_030662	NA	Approved	MEK2	uc002lzk.3	P36507	OTTHUMG00000134286	ENST00000262948.5:c.885G>A	19.37:g.4099233C>T		NA		37	CCDS12120.1																																																																																			MAP2K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258957.2		-	ENST00000262948.5	Silent	SNP	19 : 4099233 - 4099233 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	76	19
IGSF21	84966	broad.mit.edu	37	1	18691979	18691979	+	Missense_Mutation	SNP	C	C	T	rs144826489		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18691979C>T	ENST00000251296.1	+	6	1186	c.803C>T	c.(802-804)aCg>aTg	p.T268M		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	268						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		ATACCAGAGACGGTCGTGAGC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	119	118			NA	NA	1		NA											NA				18691979		2203	4300	6503	SO:0001583	missense			AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154	84966	84966		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	28246	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_032880	NM_032880	NA	Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.803C>T	1.37:g.18691979C>T	ENSP00000251296:p.Thr268Met	NA	Q8NBR8	37	CCDS184.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.176491	0.78564	.	.	ENSG00000117154	ENST00000251296	T	0.59224	0.28	4.28	4.28	0.50868	.	0.151120	0.64402	D	0.000016	T	0.61123	0.2322	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	P	0.58928	0.848	T	0.63769	-0.6562	10	0.49607	T	0.09	-3.8792	15.7859	0.78304	0.0:1.0:0.0:0.0	.	268	Q96ID5	IGS21_HUMAN	M	268	ENSP00000251296:T268M	ENSP00000251296:T268M	T	+	2	0	IGSF21	18564566	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	6.953000	0.75995	2.383000	0.81215	0.561000	0.74099	ACG	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006924.1		+	ENST00000251296.1	Missense_Mutation	SNP	1 : 18691979 - 18691979 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1021	92
KRT38	8687	broad.mit.edu	37	17	39595014	39595014	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39595014G>A	ENST00000246646.3	-	4	828	c.829C>T	c.(829-831)Cgg>Tgg	p.R277W		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	277	Coil 2.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TACTGAGCCCGCATCTCCCCC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	136	138			NA	NA	17		NA											NA				39595014		2203	4300	6503	SO:0001583	missense			Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360	8687	8687		-, Intermediate filaments type I, keratins (acidic)	6456	protein-coding gene	gene with protein product		604542	keratin, hair, acidic, 8	KRTHA8	NA	9756910, 16831889	Standard	NM_006771	NM_006771	NA	Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.829C>T	17.37:g.39595014G>A	ENSP00000246646:p.Arg277Trp	NA	A2RRM5|Q6A164	37	CCDS11392.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.946566	0.34377	.	.	ENSG00000171360	ENST00000246646	D	0.93488	-3.23	4.27	-4.06	0.03986	Filament (1);	0.000000	0.44902	D	0.000401	D	0.92028	0.7474	M	0.92077	3.27	0.37369	D	0.911553	P	0.38767	0.646	B	0.35510	0.204	D	0.87499	0.2432	10	0.87932	D	0	.	8.7404	0.34554	0.1057:0.0:0.2405:0.6538	.	277	O76015	KRT38_HUMAN	W	277	ENSP00000246646:R277W	ENSP00000246646:R277W	R	-	1	2	KRT38	36848540	0.000000	0.05858	0.927000	0.36925	0.624000	0.37722	-1.242000	0.02908	-0.355000	0.08199	-0.410000	0.06199	CGG	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257307.2		-	ENST00000246646.3	Missense_Mutation	SNP	17 : 39595014 - 39595014 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	532	127
GAK	2580	broad.mit.edu	37	4	845593	845593	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:845593C>T	ENST00000314167.4	-	25	3563	c.3453G>A	c.(3451-3453)tcG>tcA	p.S1151S	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Silent_p.S1072S	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1151					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	p.S1151S(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CACTGAAGTTCGAGGCATAGT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)						C		0,4406		0,0,2203	40	45	43		3453	-9.7	0	4		43	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	GAK	NM_005255.2		0,1,6501	TT,TC,CC	NA	0.0116,0.0,0.0077		1151/1312	845593	1,13003	2203	4299	6502	SO:0001819	synonymous_variant			D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950	2580	2580		Heat shock proteins / DNAJ (HSP40)	4113	protein-coding gene	gene with protein product	auxilin-2	602052			NA	9299234	Standard	NM_005255	NM_005255	NA	Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.3453G>A	4.37:g.845593C>T		NA	Q9BVY6	37	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	C	1.445	-0.566622	0.03910	0.0	1.16E-4	ENSG00000178950	ENST00000511980	.	.	.	4.84	-9.68	0.00528	.	.	.	.	.	T	0.40909	0.1136	.	.	.	0.48452	D	0.999653	.	.	.	.	.	.	T	0.51624	-0.8682	4	.	.	.	-3.5356	4.0179	0.09652	0.142:0.4583:0.1078:0.292	.	.	.	.	Q	307	.	.	R	-	2	0	GAK	835593	0.000000	0.05858	0.000000	0.03702	0.223000	0.24884	-2.579000	0.00907	-3.608000	0.00133	-1.240000	0.01540	CGA	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239188.1		-	ENST00000314167.4	Silent	SNP	4 : 845593 - 845593 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	505	83
TTN	7273	broad.mit.edu	37	2	179474553	179474553	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179474553T>C	ENST00000589042.1	-	272	51821	c.51597A>G	c.(51595-51597)gaA>gaG	p.E17199E	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Silent_p.E14631E|TTN_ENST00000460472.2_Silent_p.E8134E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.E8259E|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.E8326E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.E15558E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15558	Fibronectin type-III 24.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTACCAGGTGTTCATTGCATC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													456	433	440			NA	NA	2		NA											NA				179474553		1928	4144	6072	SO:0001819	synonymous_variant			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.51597A>G	2.37:g.179474553T>C		NA	E7ET18	37	CCDS59435.1																																																																																			TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Silent	SNP	2 : 179474553 - 179474553 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2559	244
ZNF407	55628	broad.mit.edu	37	18	72775187	72775187	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72775187C>T	ENST00000299687.5	+	8	5510	c.5510C>T	c.(5509-5511)gCg>gTg	p.A1837V		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1837					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TTCACCGCGGCGGCCTTGGCA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	103	98			NA	NA	18		NA											NA				72775187		2067	4199	6266	SO:0001583	missense			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421	55628	55628		Zinc fingers, C2H2-type	19904	protein-coding gene	gene with protein product		615894			NA	11214970	Standard	NM_017757	NM_017757	NA	Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5510C>T	18.37:g.72775187C>T	ENSP00000299687:p.Ala1837Val	NA	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	37	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986701	0.35036	.	.	ENSG00000215421	ENST00000299687	T	0.11930	2.73	4.97	3.19	0.36642	.	.	.	.	.	T	0.06416	0.0165	L	0.27053	0.805	0.09310	N	0.999998	P	0.50710	0.938	B	0.33890	0.172	T	0.36696	-0.9737	9	0.05721	T	0.95	.	9.8525	0.41066	0.0:0.8462:0.0:0.1538	.	1837	Q9C0G0	ZN407_HUMAN	V	1837	ENSP00000299687:A1837V	ENSP00000299687:A1837V	A	+	2	0	ZNF407	70904175	1.000000	0.71417	0.000000	0.03702	0.002000	0.02628	5.516000	0.67055	-0.759000	0.04684	-2.034000	0.00421	GCG	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444903.1		+	ENST00000299687.5	Missense_Mutation	SNP	18 : 72775187 - 72775187 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	964	24
PLXDC1	57125	broad.mit.edu	37	17	37239786	37239786	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37239786C>T	ENST00000315392.4	-	9	1126	c.915G>A	c.(913-915)ctG>ctA	p.L305L	PLXDC1_ENST00000539608.1_Intron|PLXDC1_ENST00000394316.2_Silent_p.L305L|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Silent_p.L265L	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	305					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TCCTATGCTGCAGGCAGGCTG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	50	62			NA	NA	17		NA											NA				37239786		2203	4300	6503	SO:0001819	synonymous_variant			AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381	57125	57125			20945	protein-coding gene	gene with protein product	tumor endothelial marker 7 precursor	606826			NA	10947988, 11559528	Standard	NM_020405	NM_020405	NA	Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.915G>A	17.37:g.37239786C>T		NA	B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	37	CCDS11333.1																																																																																			PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256892.2		-	ENST00000315392.4	Silent	SNP	17 : 37239786 - 37239786 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	115	14
HS6ST1	9394	broad.mit.edu	37	2	129026007	129026007	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:129026007G>A	ENST00000259241.6	-	2	978	c.965C>T	c.(964-966)aCg>aTg	p.T322M		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	322					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GCCCGCCCGCGTGCTATTGTA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/THR	0,4276		0,0,2138	41	45	43		965	4.8	0.9	2		43	1,8481		0,1,4240	no	missense	HS6ST1	NM_004807.2	81	0,1,6378	AA,AG,GG	NA	0.0118,0.0,0.0078	probably-damaging	322/412	129026007	1,12757	2138	4241	6379	SO:0001583	missense			AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720	9394	9394		Sulfotransferases, membrane-bound	5201	protein-coding gene	gene with protein product		604846		HS6ST	NA	9535912	Standard	NM_004807	NM_004807	NA	Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.965C>T	2.37:g.129026007G>A	ENSP00000259241:p.Thr322Met	NA	B4DEP2|B4DJ29|Q53SL2|Q9BVI1	37	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874780	0.72180	0.0	1.18E-4	ENSG00000136720	ENST00000259241	T	0.76060	-0.99	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.88433	0.6435	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90425	0.4420	9	.	.	.	-1.3832	17.8351	0.88693	0.0:0.0:1.0:0.0	.	322	O60243	H6ST1_HUMAN	M	322	ENSP00000259241:T322M	.	T	-	2	0	HS6ST1	128742477	1.000000	0.71417	0.934000	0.37439	0.537000	0.34900	7.570000	0.82390	2.203000	0.70933	0.462000	0.41574	ACG	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331572.1		-	ENST00000259241.6	Missense_Mutation	SNP	2 : 129026007 - 129026007 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	280	67
TAF1C	9013	broad.mit.edu	37	16	84215011	84215011	+	Missense_Mutation	SNP	G	G	A	rs140327311	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84215011G>A	ENST00000567759.1	-	10	1347	c.1165C>T	c.(1165-1167)Cgt>Tgt	p.R389C	TAF1C_ENST00000341690.6_Missense_Mutation_p.R296C|TAF1C_ENST00000541676.1_Missense_Mutation_p.R296C|TAF1C_ENST00000378541.4_Missense_Mutation_p.R389C|TAF1C_ENST00000570117.1_Missense_Mutation_p.R57C|TAF1C_ENST00000566732.1_Missense_Mutation_p.R363C	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	389					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						TCTGCCCAACGCCACGAAGAG	0.652		NA											G	3	0.0014	NA	0.0028	2184	NA	0.9999	,	,	NA	3e-04	0.0026	NA	NA	0.0014	0.9546	LOWCOV,EXOME	NA	NA	8e-04	SNP								NA				0								G	CYS/ARG,CYS/ARG	2,4398	4.2+/-10.8	0,2,2198	54	51	52		1165,886	4.6	1	16	dbSNP_134	52	10,8590	7.7+/-29.5	0,10,4290	yes	missense,missense	TAF1C	NM_005679.3,NM_139353.2	180,180	0,12,6488	AA,AG,GG	NA	0.1163,0.0455,0.0923	probably-damaging,probably-damaging	389/870,296/776	84215011	12,12988	2200	4300	6500	SO:0001583	missense			L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168	9013	9013			11534	protein-coding gene	gene with protein product		604905	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD		NA	7801123	Standard	NM_139353	NM_005679	NA	Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.1165C>T	16.37:g.84215011G>A	ENSP00000455265:p.Arg389Cys	NA	B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	37	CCDS32496.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	G	17.88	3.498123	0.64186	4.55E-4	0.001163	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690	T;T;T	0.03301	3.98;3.98;3.98	4.56	4.56	0.56223	WD40/YVTN repeat-like-containing domain (1);	0.094549	0.41500	D	0.000877	T	0.15825	0.0381	M	0.72118	2.19	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.983;0.998;0.983	T	0.00090	-1.2087	10	0.66056	D	0.02	-23.8596	12.7086	0.57076	0.0:0.0:1.0:0.0	.	363;389;296	Q15572-6;Q15572;Q15572-2	.;TAF1C_HUMAN;.	C	389;296;296	ENSP00000367802:R389C;ENSP00000437900:R296C;ENSP00000345305:R296C	ENSP00000345305:R296C	R	-	1	0	TAF1C	82772512	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	6.077000	0.71275	2.360000	0.80028	0.655000	0.94253	CGT	TAF1C-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000433045.2		-	ENST00000567759.1	Missense_Mutation	SNP	16 : 84215011 - 84215011 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	228	51
PTPLB	201562	broad.mit.edu	37	3	123219521	123219521	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123219521G>T	ENST00000383657.5	-	6	680	c.523C>A	c.(523-525)Ctg>Atg	p.L175M		NM_198402.3	NP_940684.1	Q6Y1H2	HACD2_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member b	175					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein binding			kidney(2)	2				GBM - Glioblastoma multiforme(114;0.1)		ATTGGGTACAGCACAATGAAA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	82	83			NA	NA	3		NA											NA				123219521		1893	4114	6007	SO:0001583	missense			AK074605	CCDS46895.1	3q21.1	2010-04-30			ENSG00000206527	ENSG00000206527	201562	201562			9640	protein-coding gene	gene with protein product		615939			NA	15024066	Standard	NM_198402	NM_198402	NA	Approved		uc003egj.2	Q6Y1H2	OTTHUMG00000159529	ENST00000383657.5:c.523C>A	3.37:g.123219521G>T	ENSP00000373153:p.Leu175Met	NA		37	CCDS46895.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.06|17.06	3.291939|3.291939	0.59976|0.59976	.|.	.|.	ENSG00000206527|ENSG00000206527	ENST00000493515|ENST00000383657;ENST00000469317	.|T;T	.|0.53423	.|0.62;0.62	5.91|5.91	4.13|4.13	0.48395|0.48395	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68760|0.68760	0.3036|0.3036	M|M	0.85041|0.85041	2.73|2.73	0.58432|0.58432	D|D	0.999993|0.999993	.|D	.|0.71674	.|0.998	.|D	.|0.73380	.|0.98	T|T	0.71603|0.71603	-0.4543|-0.4543	5|10	.|0.66056	.|D	.|0.02	-7.5737|-7.5737	10.5981|10.5981	0.45349|0.45349	0.2203:0.0:0.7797:0.0|0.2203:0.0:0.7797:0.0	.|.	.|175	.|Q6Y1H2	.|HACD2_HUMAN	D|M	7|175;64	.|ENSP00000373153:L175M;ENSP00000419237:L64M	.|ENSP00000373153:L175M	A|L	-|-	2|1	0|2	PTPLB|PTPLB	124702211|124702211	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.988000|0.988000	0.76386|0.76386	4.086000|4.086000	0.57664|0.57664	0.847000|0.847000	0.35167|0.35167	-0.140000|-0.140000	0.14226|0.14226	GCT|CTG	PTPLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356021.3		-	ENST00000383657.5	Missense_Mutation	SNP	3 : 123219521 - 123219521 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	212	28
AHDC1	27245	broad.mit.edu	37	1	27876902	27876902	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27876902T>C	ENST00000247087.5	-	5	2321	c.1725A>G	c.(1723-1725)gcA>gcG	p.A575A	AHDC1_ENST00000374011.2_Silent_p.A575A			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	575							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TGGTGGCCGCTGCCACAGTGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	31	31			NA	NA	1		NA											NA				27876902		2200	4297	6497	SO:0001819	synonymous_variant			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705	27245	27245			25230	protein-coding gene	gene with protein product		615790			NA	8619474, 9110174	Standard		XM_005245848	NA	Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.1725A>G	1.37:g.27876902T>C		NA	Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	37	CCDS30652.1																																																																																			AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000009523.3		-	ENST00000247087.5	Silent	SNP	1 : 27876902 - 27876902 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	328	63
LGALS4	3960	broad.mit.edu	37	19	39292728	39292728	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39292728G>A	ENST00000307751.4	-	9	1206	c.729C>T	c.(727-729)aaC>aaT	p.N243N		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	243	Galectin 2.				cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CCACGGTACCGTTGCCCATGC	0.552		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	68	61	64		729	-6.2	0	19		64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LGALS4	NM_006149.3		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		243/324	39292728	1,13005	2203	4300	6503	SO:0001819	synonymous_variant				CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747	3960	3960		Lectins, galactoside-binding	6565	protein-coding gene	gene with protein product	galectin 4	602518			NA	8063692	Standard	NM_006149	NM_006149	NA	Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.729C>T	19.37:g.39292728G>A		NA		37	CCDS12521.1																																																																																			LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462641.1		-	ENST00000307751.4	Silent	SNP	19 : 39292728 - 39292728 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	55
DBF4B	80174	broad.mit.edu	37	17	42824842	42824842	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42824842C>T	ENST00000315005.3	+	12	1161	c.1023C>T	c.(1021-1023)agC>agT	p.S341S	DBF4B_ENST00000393547.2_Silent_p.S341S	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	341					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CTCAGCTCAGCCACAGCTTTG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	60	65			NA	NA	17		NA											NA				42824842		2203	4300	6503	SO:0001819	synonymous_variant			AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692	80174	80174		Zinc fingers, DBF-type	17883	protein-coding gene	gene with protein product	chiffon homolog B (Drosophila), zinc finger, DBF-type containing 1B	611661	DBF4 homolog B (S. cerevisiae)		NA	15668232	Standard	NM_025104	NM_145663	NA	Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.1023C>T	17.37:g.42824842C>T		NA	D3DX56|Q8TEX0|Q96B19|Q9H912	37	CCDS11485.1																																																																																			DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385930.1		+	ENST00000315005.3	Silent	SNP	17 : 42824842 - 42824842 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	61
UTRN	7402	broad.mit.edu	37	6	145075930	145075930	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:145075930C>A	ENST00000367545.3	+	56	8430	c.8430C>A	c.(8428-8430)ctC>ctA	p.L2810L	UTRN_ENST00000480333.1_3'UTR|UTRN_ENST00000367526.4_Silent_p.L365L	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2810	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGCATTTTCTCTCTAGTAAGT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	103	104			NA	NA	6		NA											NA				145075930		2203	4300	6503	SO:0001819	synonymous_variant			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818	7402	7402			12635	protein-coding gene	gene with protein product		128240	utrophin (homologous to dystrophin)	DMDL	NA	1426262	Standard		NM_007124	NA	Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.8430C>A	6.37:g.145075930C>A		NA	Q5SZ57	37	CCDS34547.1																																																																																			UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042551.1		+	ENST00000367545.3	Silent	SNP	6 : 145075930 - 145075930 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	362	71
ZNF665	79788	broad.mit.edu	37	19	53667726	53667726	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53667726G>A	ENST00000600412.1	-	2	1937	c.1822C>T	c.(1822-1824)Cga>Tga	p.R608*	ZNF665_ENST00000396424.3_Nonsense_Mutation_p.R673*			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TGAATTCTTCGATGTTTTGCA	0.488		NA											G	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	5e-04	SNP								NA				0													40	41	41			NA	NA	19		NA											NA				53667726		2160	4286	6446	SO:0001587	stop_gained				CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497	79788	79788		Zinc fingers, C2H2-type, -	25885	protein-coding gene	gene with protein product					NA		Standard	NM_024733	NM_024733	NA	Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.1822C>T	19.37:g.53667726G>A	ENSP00000469154:p.Arg608*	NA	A8K5T8	37		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	28.2	4.902202	0.92035	.	.	ENSG00000197497	ENST00000396424	.	.	.	2.23	1.16	0.20824	.	.	.	.	.	.	.	.	.	.	.	0.22601	N	0.998943	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	7.6878	0.28550	0.1416:0.0:0.8584:0.0	.	.	.	.	X	673	.	ENSP00000379702:R673X	R	-	1	2	ZNF665	58359538	0.000000	0.05858	0.005000	0.12908	0.045000	0.14185	-0.524000	0.06222	0.262000	0.21774	0.543000	0.68304	CGA	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000464179.1		-	ENST00000600412.1	Nonsense_Mutation	SNP	19 : 53667726 - 53667726 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	161	18
FAM50B	26240	broad.mit.edu	37	6	3850321	3850321	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:3850321G>T	ENST00000380274.1	+	1	702	c.276G>T	c.(274-276)caG>caT	p.Q92H	FAM50B_ENST00000380272.3_Missense_Mutation_p.Q92H			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	92						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				CCAAGCGCCAGCACCTGGAGG	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	17	15			NA	NA	6		NA											NA				3850321		2197	4287	6484	SO:0001583	missense			Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945	26240	26240			18789	protein-coding gene	gene with protein product		614686			NA	10534398	Standard	NM_012135	NM_012135	NA	Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.276G>T	6.37:g.3850321G>T	ENSP00000369627:p.Gln92His	NA	Q5T2L6	37	CCDS4487.1	.	.	.	.	.	.	.	.	.	.	G	9.997	1.232500	0.22626	.	.	ENSG00000145945	ENST00000380274;ENST00000380272	.	.	.	4.4	0.595	0.17490	.	0.124634	0.52532	D	0.000069	T	0.25901	0.0631	N	0.24115	0.695	0.32716	N	0.510942	P	0.38370	0.628	P	0.50314	0.637	T	0.13629	-1.0502	9	0.52906	T	0.07	-9.468	8.009	0.30342	0.3786:0.0:0.6214:0.0	.	92	Q9Y247	FA50B_HUMAN	H	92	.	ENSP00000369625:Q92H	Q	+	3	2	FAM50B	3795320	1.000000	0.71417	0.805000	0.32314	0.035000	0.12851	2.188000	0.42612	0.230000	0.21059	0.485000	0.47835	CAG	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039693.1		+	ENST00000380274.1	Missense_Mutation	SNP	6 : 3850321 - 3850321 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	112	18
MYO15A	51168	broad.mit.edu	37	17	18044339	18044339	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18044339G>T	ENST00000205890.5	+	22	5751	c.5413G>T	c.(5413-5415)Ggt>Tgt	p.G1805C	MYO15A_ENST00000412324.1_3'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1805	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ACAGGAGCCAGGTCTCTTTGA	0.542		NA									OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	66	65			NA	NA	17		NA											NA				18044339		1960	4153	6113	SO:0001583	missense			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536	51168	51168		Myosins / Myosin superfamily : Class XV	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15	NA	9603736	Standard	NM_016239	NM_016239	NA	Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.5413G>T	17.37:g.18044339G>T	ENSP00000205890:p.Gly1805Cys	722		37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	9.742	1.165221	0.21538	.	.	ENSG00000091536	ENST00000205890	D	0.88124	-2.34	5.78	4.8	0.61643	Myosin head, motor domain (2);	.	.	.	.	D	0.92928	0.7750	M	0.86953	2.85	0.80722	D	1	D	0.63880	0.993	P	0.59948	0.866	D	0.92453	0.5971	9	0.48119	T	0.1	.	13.9293	0.63983	0.1321:0.0:0.8679:0.0	.	1805	Q9UKN7	MYO15_HUMAN	C	1805	ENSP00000205890:G1805C	ENSP00000205890:G1805C	G	+	1	0	MYO15A	17985064	1.000000	0.71417	0.808000	0.32385	0.121000	0.20230	3.994000	0.56994	0.803000	0.34113	-1.134000	0.01955	GGT	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132048.1		+	ENST00000205890.5	Missense_Mutation	SNP	17 : 18044339 - 18044339 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	218	37
DMBT1	1755	broad.mit.edu	37	10	124339216	124339216	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124339216G>T	ENST00000338354.3	+	10	908	c.802G>T	c.(802-804)Gcc>Tcc	p.A268S	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.A268S|DMBT1_ENST00000344338.3_Missense_Mutation_p.A268S|DMBT1_ENST00000368909.3_Missense_Mutation_p.A268S|DMBT1_ENST00000330163.4_Missense_Mutation_p.A268S|DMBT1_ENST00000368956.2_Missense_Mutation_p.A268S			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	268	SRCR 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CACCAATGATGCCAATGTGGT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(182;93 2026 18125 22222 38972)							NA				0													215	214	214			NA	NA	10		NA											NA				124339216		2004	4169	6173	SO:0001583	missense				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908	1755	1755			2926	protein-coding gene	gene with protein product		601969			NA	9288095, 17548659	Standard	NM_004406	NM_004406	NA	Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.802G>T	10.37:g.124339216G>T	ENSP00000342210:p.Ala268Ser	NA	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	37		.	.	.	.	.	.	.	.	.	.	G	22.3	4.269065	0.80469	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	4.07	4.07	0.47477	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.79776	0.4504	H	0.97415	4	0.80722	D	1	D;D;D;P;D	0.76494	0.998;0.986;0.999;0.619;0.999	D;D;D;P;D	0.91635	0.987;0.991;0.985;0.727;0.999	D	0.88134	0.2840	9	0.72032	D	0.01	.	16.7077	0.85376	0.0:0.0:1.0:0.0	.	268;268;268;268;268	Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;DMBT1_HUMAN	S	268	ENSP00000342210:A268S;ENSP00000343175:A268S;ENSP00000327747:A268S;ENSP00000357905:A268S;ENSP00000357951:A268S;ENSP00000357952:A268S	ENSP00000331522:A268S	A	+	1	0	DMBT1	124329206	1.000000	0.71417	0.489000	0.27452	0.676000	0.39594	6.350000	0.73017	2.017000	0.59298	0.537000	0.68136	GCC	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000050792.2		+	ENST00000338354.3	Missense_Mutation	SNP	10 : 124339216 - 124339216 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2046	52
HTR3D	200909	broad.mit.edu	37	3	183755893	183755893	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183755893C>A	ENST00000382489.3	+	6	745	c.745C>A	c.(745-747)Ctc>Atc	p.L249I	HTR3D_ENST00000334128.2_Missense_Mutation_p.L76I|HTR3D_ENST00000453435.1_Missense_Mutation_p.L30I|HTR3D_ENST00000428798.2_Missense_Mutation_p.L201I	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	249						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CATCGATGCCCTCAGTTTCTA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	88	93			NA	NA	3		NA											NA				183755893		2203	4300	6503	SO:0001583	missense			AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090	200909	200909		5-HT (serotonin) receptors, Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic	24004	protein-coding gene	gene with protein product		610122	5-hydroxytryptamine (serotonin) receptor 3 family member D		NA	12801637	Standard	NM_182537	NM_001145143	NA	Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.745C>A	3.37:g.183755893C>A	ENSP00000371929:p.Leu249Ile	NA	C9J2I6|Q495N5|Q495N6|Q7Z6B3	37	CCDS54685.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629200	0.28978	.	.	ENSG00000186090	ENST00000334128;ENST00000428798;ENST00000382489;ENST00000453435	D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59	3.29	2.35	0.29111	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.148834	0.45361	D	0.000362	D	0.88588	0.6477	L	0.52126	1.63	0.22401	N	0.999139	P;P;P;P	0.49307	0.726;0.922;0.673;0.922	P;P;B;P	0.55577	0.665;0.615;0.444;0.779	T	0.79322	-0.1851	10	0.41790	T	0.15	-12.8873	7.1909	0.25824	0.0:0.8478:0.0:0.1522	.	249;76;30;76	Q70Z44;Q70Z44-2;Q70Z44-3;F6WC43	5HT3D_HUMAN;.;.;.	I	76;201;249;30	ENSP00000334315:L76I;ENSP00000405409:L201I;ENSP00000371929:L249I;ENSP00000389268:L30I	ENSP00000334315:L76I	L	+	1	0	HTR3D	185238587	0.998000	0.40836	0.960000	0.40013	0.008000	0.06430	0.707000	0.25704	0.652000	0.30806	0.561000	0.74099	CTC	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346289.1		+	ENST00000382489.3	Missense_Mutation	SNP	3 : 183755893 - 183755893 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	335	16
EPHA5	2044	broad.mit.edu	37	4	66356119	66356119	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:66356119C>T	ENST00000273854.3	-	5	1978	c.1378G>A	c.(1378-1380)Gta>Ata	p.V460I	EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Missense_Mutation_p.V460I|EPHA5_ENST00000511294.1_Missense_Mutation_p.V460I	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	460					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GTTACATTTACAGACACATAC	0.473		NA								TSP Lung(17;0.13)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	67	72			NA	NA	4		NA											NA				66356119		2203	4300	6503	SO:0001583	missense			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242	2044	2044		EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3389	protein-coding gene	gene with protein product		600004	EphA5		NA	9267020, 7528718	Standard	NM_004439	NM_004439	NA	Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1378G>A	4.37:g.66356119C>T	ENSP00000273854:p.Val460Ile	NA	Q7Z3F2	37	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790228	0.50102	.	.	ENSG00000145242	ENST00000273854;ENST00000354839;ENST00000511294	T;T;T	0.55234	0.53;0.53;0.53	6.08	6.08	0.98989	Fibronectin, type III (1);	0.000000	0.53938	D	0.000049	T	0.60090	0.2242	L	0.46157	1.445	0.42608	D	0.993307	B;B;P;B	0.36330	0.413;0.017;0.548;0.129	B;B;P;B	0.46237	0.311;0.027;0.508;0.026	T	0.52381	-0.8583	10	0.35671	T	0.21	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	460;460;460;460	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	I	460	ENSP00000273854:V460I;ENSP00000346899:V460I;ENSP00000427638:V460I	ENSP00000273854:V460I	V	-	1	0	EPHA5	66038714	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.904000	0.56325	2.894000	0.99253	0.591000	0.81541	GTA	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251388.2		-	ENST00000273854.3	Missense_Mutation	SNP	4 : 66356119 - 66356119 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	350	62
CCDC116	164592	broad.mit.edu	37	22	21988516	21988516	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21988516C>T	ENST00000292779.3	+	3	439	c.278C>T	c.(277-279)gCg>gTg	p.A93V	CCDC116_ENST00000607942.1_Missense_Mutation_p.A93V	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	93								p.A93V(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					GTGGAGAAGGCGACTGAGCGC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											116	104	108			NA	NA	22		NA											NA				21988516		2203	4300	6503	SO:0001583	missense			BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180	164592	164592			26688	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152612	NM_152612	NA	Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.278C>T	22.37:g.21988516C>T	ENSP00000292779:p.Ala93Val	NA	Q8N9Y9	37	CCDS13791.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839446	0.71488	.	.	ENSG00000161180	ENST00000292779	T	0.21932	1.98	4.55	4.55	0.56014	.	0.276192	0.25783	N	0.028334	T	0.37489	0.1005	L	0.47190	1.495	0.20563	N	0.999887	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.06588	-1.0818	9	.	.	.	-82.0264	12.9811	0.58564	0.0:1.0:0.0:0.0	.	93;93	B7Z7H5;Q8IYX3-2	.;.	V	93	ENSP00000292779:A93V	.	A	+	2	0	CCDC116	20318516	0.954000	0.32549	0.325000	0.25375	0.617000	0.37484	3.713000	0.54882	2.521000	0.84997	0.585000	0.79938	GCG	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320199.1		+	ENST00000292779.3	Missense_Mutation	SNP	22 : 21988516 - 21988516 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	544	90
TFAP2D	83741	broad.mit.edu	37	6	50683111	50683111	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:50683111G>A	ENST00000008391.3	+	2	550	c.322G>A	c.(322-324)Ggg>Agg	p.G108R		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	108							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					GATCCACCACGGGGAGCCCAC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	101	104			NA	NA	6		NA											NA				50683111		2203	4300	6503	SO:0001583	missense			AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197	83741	83741			15581	protein-coding gene	gene with protein product		610161	transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1	TFAP2BL1	NA	11733187	Standard	NM_172238	NM_172238	NA	Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.322G>A	6.37:g.50683111G>A	ENSP00000008391:p.Gly108Arg	NA	Q8IWX0	37	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.020360	0.54576	.	.	ENSG00000008197	ENST00000008391	D	0.97209	-4.29	5.21	5.21	0.72293	.	0.052063	0.85682	D	0.000000	D	0.95723	0.8609	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97398	0.9994	10	0.56958	D	0.05	-16.1546	19.1268	0.93388	0.0:0.0:1.0:0.0	.	108	Q7Z6R9	AP2D_HUMAN	R	108	ENSP00000008391:G108R	ENSP00000008391:G108R	G	+	1	0	TFAP2D	50791070	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.588000	0.98232	2.590000	0.87494	0.655000	0.94253	GGG	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040881.1		+	ENST00000008391.3	Missense_Mutation	SNP	6 : 50683111 - 50683111 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	610	26
MT1M	4499	broad.mit.edu	37	16	56666669	56666669	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56666669C>T	ENST00000379818.3	+	1	525	c.26C>T	c.(25-27)aCt>aTt	p.T9I		NM_176870.2	NP_789846.1	Q8N339	MT1M_HUMAN	metallothionein 1M	9	Beta.						metal ion binding			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5						TCCTGCACCACTGGTAAGAGA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	71	69			NA	NA	16		NA											NA				56666669		2197	4300	6497	SO:0001583	missense			AF136177	CCDS42166.1	16q13	2008-02-05				ENSG00000205364	4499	4499		Metallothioneins	14296	protein-coding gene	gene with protein product		156357	metallothionein 1K	MT1, MT1K	NA	2286373, 8049263	Standard	NM_176870	NM_176870	NA	Approved		uc002ejn.3	Q8N339		ENST00000379818.3:c.26C>T	16.37:g.56666669C>T	ENSP00000369146:p.Thr9Ile	NA	Q8TDN3	37	CCDS42166.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.431737	0.25813	.	.	ENSG00000205364	ENST00000379818	T	0.10288	2.89	2.61	1.48	0.22813	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.102672	0.38005	U	0.001860	T	0.09335	0.0230	.	.	.	0.09310	N	1	B	0.26002	0.139	B	0.34301	0.179	T	0.22208	-1.0223	9	0.87932	D	0	.	5.9454	0.19215	0.3093:0.6907:0.0:0.0	.	9	Q8N339	MT1M_HUMAN	I	9	ENSP00000369146:T9I	ENSP00000369146:T9I	T	+	2	0	MT1M	55224170	0.001000	0.12720	0.009000	0.14445	0.009000	0.06853	0.537000	0.23144	1.466000	0.48025	0.306000	0.20318	ACT	MT1M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434359.1		+	ENST00000379818.3	Missense_Mutation	SNP	16 : 56666669 - 56666669 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	667	91
GNPDA1	10007	broad.mit.edu	37	5	141384657	141384657	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141384657G>A	ENST00000513454.1	-	5	472	c.434C>T	c.(433-435)gCc>gTc	p.A145V	GNPDA1_ENST00000508177.1_Missense_Mutation_p.A145V|GNPDA1_ENST00000311337.6_Missense_Mutation_p.A145V|GNPDA1_ENST00000542860.1_Intron|GNPDA1_ENST00000458112.2_Missense_Mutation_p.A111V|GNPDA1_ENST00000500692.2_Missense_Mutation_p.A145V|GNPDA1_ENST00000503794.1_Missense_Mutation_p.A145V			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	145					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGTTGAAGGCAATGTGTCC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	48	50			NA	NA	5		NA											NA				141384657		2203	4300	6503	SO:0001583	missense			AF048826	CCDS4272.1	5q21	2008-02-05	2003-10-17	2003-10-22	ENSG00000113552	ENSG00000113552	10007	10007	3.5.99.6		4417	protein-coding gene	gene with protein product	glucosamine-6-phosphate deaminase, oscillin	601798	glucosamine-6-phosphate isomerase	GNPI	NA	9714720, 9438414	Standard	NM_005471	NM_005471	NA	Approved	GNPDA, HLN, GPI, KIAA0060	uc010jgh.3	P46926	OTTHUMG00000129657	ENST00000513454.1:c.434C>T	5.37:g.141384657G>A	ENSP00000423494:p.Ala145Val	NA	D3DQE7	37		.	.	.	.	.	.	.	.	.	.	G	35	5.492421	0.96339	.	.	ENSG00000113552	ENST00000513454;ENST00000311337;ENST00000458112;ENST00000500692;ENST00000508177;ENST00000503794;ENST00000504139;ENST00000505689;ENST00000510194	T;T;T;T;T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13;0.13;0.13;0.13;0.13	5.84	4.97	0.65823	Glucosamine/galactosamine-6-phosphate isomerase (1);	0.000000	0.85682	D	0.000000	D	0.83653	0.5301	H	0.97659	4.05	0.80722	D	1	D;D	0.76494	0.983;0.999	P;D	0.69307	0.831;0.963	D	0.89652	0.3870	10	0.87932	D	0	-15.799	14.9374	0.70967	0.0688:0.0:0.9312:0.0	.	111;145	E7EVU7;P46926	.;GNPI1_HUMAN	V	145;145;111;145;145;145;145;166;145	ENSP00000423494:A145V;ENSP00000311876:A145V;ENSP00000387718:A111V;ENSP00000424275:A145V;ENSP00000423674:A145V;ENSP00000423485:A145V;ENSP00000424625:A145V;ENSP00000421524:A166V;ENSP00000424537:A145V	ENSP00000311876:A145V	A	-	2	0	GNPDA1	141364841	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.476000	0.97823	1.477000	0.48234	0.591000	0.81541	GCC	GNPDA1-013	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000370641.1		-	ENST00000513454.1	Missense_Mutation	SNP	5 : 141384657 - 141384657 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	144	33
SLC9A3R1	9368	broad.mit.edu	37	17	72764365	72764365	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72764365C>T	ENST00000262613.5	+	5	1073	c.878C>T	c.(877-879)aCc>aTc	p.T293I	SLC9A3R1_ENST00000413388.2_Missense_Mutation_p.T137I	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1	293					apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of cell proliferation|negative regulation of ERK1 and ERK2 cascade|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption|Wnt receptor signaling pathway	actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle	beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|PDZ domain binding|phosphatase binding|protein self-association			large_intestine(4)	4						TCCAGTGACACCAGCGAGGAG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	50	48			NA	NA	17		NA											NA				72764365		2203	4300	6503	SO:0001583	missense			AF015926	CCDS11705.1	17q25.1	2014-09-04	2012-03-22		ENSG00000109062	ENSG00000109062	9368	9368			11075	protein-coding gene	gene with protein product		604990	solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1, solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 1, solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1		NA	9314537, 9430655	Standard		NM_004252	NA	Approved	NHERF, EBP50	uc002jlo.4	O14745	OTTHUMG00000178863	ENST00000262613.5:c.878C>T	17.37:g.72764365C>T	ENSP00000262613:p.Thr293Ile	NA	O43552|Q86WQ5	37	CCDS11705.1	.	.	.	.	.	.	.	.	.	.	C	9.246	1.039640	0.19669	.	.	ENSG00000109062	ENST00000262613	T	0.31247	1.5	4.37	4.37	0.52481	.	0.489229	0.22378	N	0.060844	T	0.30727	0.0774	M	0.67953	2.075	0.35992	D	0.836765	B	0.12630	0.006	B	0.09377	0.004	T	0.28038	-1.0056	10	0.19147	T	0.46	-12.1327	12.783	0.57487	0.0:1.0:0.0:0.0	.	293	O14745	NHRF1_HUMAN	I	293	ENSP00000262613:T293I	ENSP00000262613:T293I	T	+	2	0	SLC9A3R1	70275960	1.000000	0.71417	1.000000	0.80357	0.471000	0.32888	3.450000	0.52957	2.142000	0.66516	0.467000	0.42956	ACC	SLC9A3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443671.1		+	ENST00000262613.5	Missense_Mutation	SNP	17 : 72764365 - 72764365 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	561	107
ARHGAP39	80728	broad.mit.edu	37	8	145771066	145771066	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145771066G>T	ENST00000276826.5	-	5	2289	c.2088C>A	c.(2086-2088)aaC>aaA	p.N696K	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.N696K|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.N696K			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	696					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TGGAGGCCCAGTTCTCGATGT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	54	56			NA	NA	8		NA											NA				145771066		2203	4300	6503	SO:0001583	missense				CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799	80728	80728		Rho GTPase activating proteins	29351	protein-coding gene	gene with protein product	RhoGAP93B homolog (Drosophila), crossGAP homolog (Drosophila)	615880			NA	15755809	Standard		XM_005272344	NA	Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.2088C>A	8.37:g.145771066G>T	ENSP00000276826:p.Asn696Lys	NA	B4E1I1	37		.	.	.	.	.	.	.	.	.	.	G	18.28	3.588366	0.66105	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.68331	-0.32;-0.04;-0.32	5.22	4.35	0.52113	.	0.157092	0.56097	D	0.000033	T	0.50429	0.1615	N	0.03050	-0.425	0.45464	D	0.998435	D;P	0.58620	0.983;0.918	P;P	0.55508	0.777;0.712	T	0.47923	-0.9079	10	0.10636	T	0.68	-10.3016	11.4392	0.50086	0.0886:0.0:0.9114:0.0	.	696;696	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	K	696	ENSP00000276826:N696K;ENSP00000366522:N696K;ENSP00000445075:N696K	ENSP00000276826:N696K	N	-	3	2	ARHGAP39	145741874	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.044000	0.57361	1.190000	0.43042	0.650000	0.86243	AAC	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000382509.1		-	ENST00000276826.5	Missense_Mutation	SNP	8 : 145771066 - 145771066 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	278	31
SLC5A5	6528	broad.mit.edu	37	19	17988836	17988836	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17988836C>T	ENST00000222248.3	+	7	1250	c.903C>T	c.(901-903)atC>atT	p.I301I		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	301					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GCTGTGGCATCGTCATGTTTG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(65;1008 1708 7910 46650)							NA				0													118	84	95			NA	NA	19		NA											NA				17988836		2203	4300	6503	SO:0001819	synonymous_variant				CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641	6528	6528		Solute carriers	11040	protein-coding gene	gene with protein product		601843	solute carrier family 5 (sodium iodide symporter), member 5		NA	9231811	Standard		NM_000453	NA	Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.903C>T	19.37:g.17988836C>T		NA	O43702|Q2M335|Q9NYB6	37	CCDS12368.1																																																																																			SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466690.1		+	ENST00000222248.3	Silent	SNP	19 : 17988836 - 17988836 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	307	28
ATP2C1	27032	broad.mit.edu	37	3	130716497	130716497	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130716497G>A	ENST00000510168.1	+	25	2841	c.2291G>A	c.(2290-2292)cGc>cAc	p.R764H	ATP2C1_ENST00000428331.2_Missense_Mutation_p.R764H|ATP2C1_ENST00000505330.1_Missense_Mutation_p.R748H|ATP2C1_ENST00000508532.1_Missense_Mutation_p.R764H|ATP2C1_ENST00000422190.2_Missense_Mutation_p.R764H|ATP2C1_ENST00000504381.1_Missense_Mutation_p.R709H|ATP2C1_ENST00000507488.2_Missense_Mutation_p.R748H|ATP2C1_ENST00000393221.4_Missense_Mutation_p.R798H|ATP2C1_ENST00000513801.1_Missense_Mutation_p.R748H|ATP2C1_ENST00000359644.3_Missense_Mutation_p.R764H|ATP2C1_ENST00000328560.8_Missense_Mutation_p.R764H|ATP2C1_ENST00000533801.2_Missense_Mutation_p.R759H|ATP2C1_ENST00000504948.1_Missense_Mutation_p.R748H			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	764					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	AAACCTCCTCGCAACTGGAAA	0.343		NA							Hailey-Hailey disease					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(99;456 1443 27647 34099 42636)							NA				0													144	146	146			NA	NA	3		NA											NA				130716497		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	27032	27032	3.6.3.8	ATPases / P-type	13211	protein-coding gene	gene with protein product	secretory pathway Ca2+/Mn2+ ATPase 1, calcium-transporting ATPase type 2C member 1	604384	benign chronic pemphigus (Hailey-Hailey disease)	BCPM	NA	10615129, 10767338	Standard	NM_001001486	NM_001001485	NA	Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.2291G>A	3.37:g.130716497G>A	ENSP00000427461:p.Arg764His	NA	B2RAT7|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	37	CCDS46914.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.566092|5.566092	0.96540|0.96540	.|.	.|.	ENSG00000017260|ENSG00000017260	ENST00000504612;ENST00000508660|ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421	.|D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.97791	.|-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54	5.87|5.87	5.87|5.87	0.94306|0.94306	.|ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99217|0.99217	0.9728|0.9728	H|H	0.95780|0.95780	3.72|3.72	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.97110	.|1.0;1.0;0.999;1.0;0.999;1.0;1.0	D|D	0.98977|0.98977	1.0803|1.0803	5|10	.|0.72032	.|D	.|0.01	.|.	20.1991|20.1991	0.98252|0.98252	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|798;759;798;764;798;764;764	.|G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194	.|.;.;.;.;.;.;AT2C1_HUMAN	T|H	718;282|748;709;748;798;759;764;764;748;748;764;764;764;764;763	.|ENSP00000423774:R748H;ENSP00000425320:R709H;ENSP00000421326:R748H;ENSP00000376914:R798H;ENSP00000432956:R759H;ENSP00000427461:R764H;ENSP00000424783:R764H;ENSP00000423330:R748H;ENSP00000422872:R748H;ENSP00000329664:R764H;ENSP00000395809:R764H;ENSP00000352665:R764H;ENSP00000402677:R764H	.|ENSP00000329664:R764H	A|R	+|+	1|2	0|0	ATP2C1|ATP2C1	132199187|132199187	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.861000|9.861000	0.99562|0.99562	2.775000|2.775000	0.95449|0.95449	0.650000|0.650000	0.86243|0.86243	GCA|CGC	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356648.2		+	ENST00000510168.1	Missense_Mutation	SNP	3 : 130716497 - 130716497 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	636	102
ARID1A	8289	broad.mit.edu	37	1	27105787	27105787	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27105787A>T	ENST00000457599.2	+	20	4747	c.4747A>T	c.(4747-4749)Aat>Tat	p.N1583Y	ARID1A_ENST00000540690.1_Missense_Mutation_p.N128Y|ARID1A_ENST00000324856.7_Missense_Mutation_p.N1800Y|ARID1A_ENST00000374152.2_Missense_Mutation_p.N1417Y	NM_139135.2	NP_624361.1	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1800					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGCTTCAGAGAATAGTGAGGA	0.433		NA	Mis, N, F, S, D		clear cell ovarian carcinoma, RCC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													69	61	64			NA	NA	1		NA											NA				27105787		2203	4300	6503	SO:0001583	missense			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713	8289	8289		-	11110	protein-coding gene	gene with protein product		603024	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1, AT rich interactive domain 1A (SWI- like)	C1orf4, SMARCF1	NA	9630625, 9434167	Standard	NM_139135	NM_139135	NA	Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000457599.2:c.4747A>T	1.37:g.27105787A>T	ENSP00000387636:p.Asn1583Tyr	NA	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	37	CCDS44091.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.46|14.46	2.542364|2.542364	0.45280|0.45280	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	T|T;T;T;T	0.03607|0.10099	3.87|4.47;4.29;4.29;2.91	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	.|0.896432	.|0.10149	.|N	.|0.709919	T|T	0.10423|0.10423	0.0255|0.0255	L|L	0.34521|0.34521	1.04|1.04	0.38307|0.38307	D|D	0.943141|0.943141	.|B;B;B	.|0.31351	.|0.143;0.086;0.32	.|B;B;B	.|0.34931	.|0.048;0.045;0.192	T|T	0.19418|0.19418	-1.0306|-1.0306	7|10	0.87932|0.59425	D|D	0|0.04	-0.7307|-0.7307	6.2998|6.2998	0.21107|0.21107	0.7827:0.0:0.0757:0.1416|0.7827:0.0:0.0757:0.1416	.|.	.|1417;1800;1583	.|O14497-3;O14497;O14497-2	.|.;ARI1A_HUMAN;.	V|Y	696|1800;1583;1417;128	ENSP00000390317:E696V|ENSP00000320485:N1800Y;ENSP00000387636:N1583Y;ENSP00000363267:N1417Y;ENSP00000442437:N128Y	ENSP00000390317:E696V|ENSP00000320485:N1800Y	E|N	+|+	2|1	0|0	ARID1A|ARID1A	26978374|26978374	0.999000|0.999000	0.42202|0.42202	0.999000|0.999000	0.59377|0.59377	0.981000|0.981000	0.71138|0.71138	3.771000|3.771000	0.55318|0.55318	2.251000|2.251000	0.74343|0.74343	0.482000|0.482000	0.46254|0.46254	GAA|AAT	ARID1A-002	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000011438.2		+	ENST00000457599.2	Missense_Mutation	SNP	1 : 27105787 - 27105787 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	350	35
MRC2	9902	broad.mit.edu	37	17	60744886	60744886	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60744886C>T	ENST00000303375.5	+	6	1511	c.1109C>T	c.(1108-1110)aCc>aTc	p.T370I		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	370					endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCCGAGCCCACCCCTCCAGGT	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	41	42			NA	NA	17		NA											NA				60744886		2203	4300	6503	SO:0001583	missense			AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028	9902	9902		CD molecules, C-type lectin domain containing	16875	protein-coding gene	gene with protein product		612264			NA	9734811, 8702911	Standard		NM_006039	NA	Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.1109C>T	17.37:g.60744886C>T	ENSP00000307513:p.Thr370Ile	NA	A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	37	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513668	0.27123	.	.	ENSG00000011028	ENST00000303375	T	0.06933	3.24	4.69	-1.81	0.07882	C-type lectin-like (1);	0.910434	0.09602	N	0.780066	T	0.02083	0.0065	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44620	-0.9316	10	0.20519	T	0.43	-4.4615	1.3201	0.02114	0.1546:0.241:0.1522:0.4521	.	370	Q9UBG0	MRC2_HUMAN	I	370	ENSP00000307513:T370I	ENSP00000307513:T370I	T	+	2	0	MRC2	58098618	0.000000	0.05858	0.000000	0.03702	0.900000	0.52787	0.366000	0.20365	-0.496000	0.06650	-0.379000	0.06801	ACC	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445152.1		+	ENST00000303375.5	Missense_Mutation	SNP	17 : 60744886 - 60744886 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	374	36
C14orf37	145407	broad.mit.edu	37	14	58605363	58605363	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58605363A>C	ENST00000267485.7	-	2	908	c.714T>G	c.(712-714)ggT>ggG	p.G238G	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	238						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TGGACTCAGCACCAGGAAAAG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	90	95			NA	NA	14		NA											NA				58605363		2203	4300	6503	SO:0001819	synonymous_variant				CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971	145407	145407			19846	protein-coding gene	gene with protein product					NA		Standard	NM_001001872	NM_001001872	NA	Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.714T>G	14.37:g.58605363A>C		NA	A8K8Z8|Q6P5Q1|Q86TY1	37	CCDS32089.1																																																																																			C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412059.1		-	ENST00000267485.7	Silent	SNP	14 : 58605363 - 58605363 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	412	80
MORC4	79710	broad.mit.edu	37	X	106236586	106236586	+	Translation_Start_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:106236586G>T	ENST00000355610.4	-	3	456	c.182C>A	c.(181-183)gCt>gAt	p.A61D	MORC4_ENST00000535534.1_De_novo_Start_OutOfFrame|MORC4_ENST00000255495.7_Missense_Mutation_p.A61D	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	61							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						TGGATCTACAGCATTATCTGC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	94	98			NA	NA	X		NA											NA				106236586		1870	4093	5963	SO:0001583	missense			AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131	79710	79710			23485	protein-coding gene	gene with protein product			zinc finger, CW-type with coiled-coil domain 2, zinc finger, CW type with coiled-coil domain 2	ZCWCC2	NA	14607086	Standard	NM_024657	NM_024657	NA	Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.182C>A	X.37:g.106236586G>T	ENSP00000347821:p.Ala61Asp	NA	Q5JUK7|Q96MZ2|Q9HAI7	37	CCDS14525.2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553454	0.86127	.	.	ENSG00000133131	ENST00000355610;ENST00000255495	D;D	0.84370	-1.84;-1.84	5.44	5.44	0.79542	ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.94870	0.8342	H	0.96048	3.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96314	0.9231	9	.	.	.	-13.0165	15.7844	0.78291	0.0:0.0:1.0:0.0	.	61;61	A1YR23;Q8TE76	.;MORC4_HUMAN	D	61	ENSP00000347821:A61D;ENSP00000255495:A61D	.	A	-	2	0	MORC4	106123242	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.830000	0.92063	2.413000	0.81919	0.594000	0.82650	GCT	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057816.3		-	ENST00000355610.4	Missense_Mutation	SNP	X : 106236586 - 106236586 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	282	73
SMARCA4	6597	broad.mit.edu	37	19	11152114	11152114	+	Silent	SNP	C	C	T	rs146747026		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11152114C>T	ENST00000538456.3	+	0	616				SMARCA4_ENST00000429416.3_Silent_p.D1434D|SMARCA4_ENST00000541122.2_Silent_p.D1404D|SMARCA4_ENST00000589677.1_Silent_p.D1404D|SMARCA4_ENST00000413806.3_Silent_p.D1404D|SMARCA4_ENST00000590574.1_Silent_p.D1401D|SMARCA4_ENST00000344626.4_Silent_p.D1434D|SMARCA4_ENST00000358026.2_Silent_p.D1466D|SMARCA4_ENST00000444061.3_Silent_p.D1401D|SMARCA4_ENST00000450717.3_Silent_p.D1404D			P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	NA					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCGACAAGGACGACGAGAGCA	0.612		NA	F, N, Mis		NSCLC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		19	19p13.2	6597	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4		E	1	Unknown(1)	lung(1)						C	,,,,,,	0,4404		0,0,2202	43	47	46		4302,4212,4212,4203,4203,4398,4302	-3.7	1	19	dbSNP_134	46	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SMARCA4	NM_001128844.1,NM_001128845.1,NM_001128846.1,NM_001128847.1,NM_001128848.1,NM_001128849.1,NM_003072.3	,,,,,,	0,1,6501	TT,TC,CC	NA	0.0116,0.0,0.0077	,,,,,,	1434/1648,1404/1618,1404/1617,1401/1615,1401/1614,1466/1680,1434/1648	11152114	1,13003	2202	4300	6502	SO:0001624	3_prime_UTR_variant			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616	6597	6597			11100	protein-coding gene	gene with protein product	SNF2-like 4, global transcription activator homologous sequence, sucrose nonfermenting-like 4, mitotic growth and transcription activator, BRM/SWI2-related gene 1, homeotic gene regulator, nuclear protein GRB1, brahma protein-like 1, ATP-dependent helicase SMARCA4	603254		SNF2L4	NA	8208605	Standard	NM_003072	NM_003072	NA	Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000538456.3:c.*613C>T	19.37:g.11152114C>T		NA	O95052|Q9HBD3	37		.	.	.	.	.	.	.	.	.	.	C	9.963	1.223480	0.22457	0.0	1.16E-4	ENSG00000127616	ENST00000538456	.	.	.	4.44	-3.66	0.04489	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-42.7996	6.6399	0.22903	0.0:0.3788:0.126:0.4952	.	.	.	.	X	206	.	.	R	+	1	2	SMARCA4	11013114	0.000000	0.05858	0.987000	0.45799	0.959000	0.62525	-1.961000	0.01516	-0.370000	0.08016	-0.363000	0.07495	CGA	SMARCA4-006	KNOWN	non_canonical_conserved|mRNA_start_NF|mRNA_end_NF|basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000403240.3		+	ENST00000538456.3	3'UTR	SNP	19 : 11152114 - 11152114 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	183	42
IYD	389434	broad.mit.edu	37	6	150715331	150715331	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:150715331C>T	ENST00000344419.3	+	4	767	c.627C>T	c.(625-627)gtC>gtT	p.V209V	IYD_ENST00000392255.3_Silent_p.V209V|IYD_ENST00000229447.5_Silent_p.V209V|IYD_ENST00000500320.3_Silent_p.V209V|IYD_ENST00000392256.2_Silent_p.V209V|IYD_ENST00000425615.3_Silent_p.V154V	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	209					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		AGAAAAAAGTCCACTACTACA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	119	124			NA	NA	6		NA											NA				150715331		2203	4300	6503	SO:0001819	synonymous_variant			AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765	389434	389434			21071	protein-coding gene	gene with protein product		612025	chromosome 6 open reading frame 71	C6orf71	NA	16316988, 15289438	Standard	NM_203395	NM_001164694	NA	Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.627C>T	6.37:g.150715331C>T		NA	Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	37	CCDS5227.1																																																																																			IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043754.3		+	ENST00000344419.3	Silent	SNP	6 : 150715331 - 150715331 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	369	60
REV3L	5980	broad.mit.edu	37	6	111621261	111621261	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111621261C>T	ENST00000358835.3	-	33	9805	c.9351G>A	c.(9349-9351)ttG>ttA	p.L3117L	REV3L_ENST00000368805.1_Silent_p.L3117L|REV3L_ENST00000435970.1_Silent_p.L3039L|REV3L_ENST00000368802.3_Silent_p.L3117L|REV3L_ENST00000462119.1_5'UTR			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	3117					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GTGCCTTGGACAATTCTCTAT	0.393		NA						DNA polymerases (catalytic subunits)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	154	154			NA	NA	6		NA											NA				111621261		2203	4300	6503	SO:0001819	synonymous_variant			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413	5980	5980		DNA polymerases	9968	protein-coding gene	gene with protein product	polymerase, DNA, zeta	602776	REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta, REV3-like, catalytic subunit of DNA polymerase zeta (yeast)		NA	9618506, 9925914	Standard	NM_002912	NM_001286431	NA	Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.9351G>A	6.37:g.111621261C>T		NA	O43214|Q5TC33	37	CCDS5091.2																																																																																			REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043695.1		-	ENST00000358835.3	Silent	SNP	6 : 111621261 - 111621261 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	483	110
ASPH	444	broad.mit.edu	37	8	62460657	62460657	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:62460657T>G	ENST00000379454.4	-	21	1924	c.1737A>C	c.(1735-1737)aaA>aaC	p.K579N	ASPH_ENST00000541428.1_Missense_Mutation_p.K550N	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	579					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	AGCCCGTTTCTTTTGGGGTCC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													182	157	166			NA	NA	8		NA											NA				62460657		2203	4300	6503	SO:0001583	missense			AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	444	444	1.14.11.16		757	protein-coding gene	gene with protein product	junctin, humbug, junctate	600582			NA	7821814, 10974562	Standard	NM_004318	NM_004318	NA	Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.1737A>C	8.37:g.62460657T>G	ENSP00000368767:p.Lys579Asn	NA	A6NDF4|A6NHI2|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	37	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	T	15.32	2.799417	0.50208	.	.	ENSG00000198363	ENST00000541428;ENST00000379454	T;T	0.33654	1.41;1.4	5.69	-7.0	0.01599	.	0.258295	0.43416	D	0.000564	T	0.23727	0.0574	L	0.50333	1.59	0.58432	D	0.999997	B;P	0.48694	0.11;0.914	B;B	0.38296	0.066;0.27	T	0.34304	-0.9834	10	0.59425	D	0.04	-11.8603	11.6338	0.51192	0.093:0.6261:0.0:0.2809	.	550;579	F5H667;Q12797	.;ASPH_HUMAN	N	550;579	ENSP00000437864:K550N;ENSP00000368767:K579N	ENSP00000368767:K579N	K	-	3	2	ASPH	62623211	0.000000	0.05858	0.000000	0.03702	0.880000	0.50808	-1.637000	0.02015	-1.314000	0.02300	0.528000	0.53228	AAA	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378510.3		-	ENST00000379454.4	Missense_Mutation	SNP	8 : 62460657 - 62460657 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	867	176
CDHR2	54825	broad.mit.edu	37	5	176016537	176016537	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176016537C>T	ENST00000510636.1	+	24	3400	c.3126C>T	c.(3124-3126)acC>acT	p.T1042T	CDHR2_ENST00000261944.5_Silent_p.T1042T|CDHR2_ENST00000506348.1_Silent_p.T1042T	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1042	Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						AGCTCTTCACCGTGGACCAGA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	54	53			NA	NA	5		NA											NA				176016537		2203	4300	6503	SO:0001819	synonymous_variant			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276	54825	54825		Cadherins / Cadherin-related	18231	protein-coding gene	gene with protein product	protocadherin LKC		protocadherin 24	PCDH24	NA	11082270, 12117771	Standard	NM_017675	NM_001171976	NA	Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.3126C>T	5.37:g.176016537C>T		NA	A6NC80|Q9NXP8	37	CCDS34297.1																																																																																			CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372201.1		+	ENST00000510636.1	Silent	SNP	5 : 176016537 - 176016537 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	390	63
NKTR	4820	broad.mit.edu	37	3	42672059	42672059	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42672059C>T	ENST00000232978.8	+	7	584	c.396C>T	c.(394-396)caC>caT	p.H132H	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	132	PPIase cyclophilin-type.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CTGCTCCACACCTGGATGGGT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	138	145			NA	NA	3		NA											NA				42672059		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857	4820	4820			7833	protein-coding gene	gene with protein product	NK-tumor recognition protein, natural-killer cells cyclophilin-related protein, NK-TR protein	161565	natural killer-tumor recognition sequence		NA	8314596, 8144875	Standard	NM_005385	XM_005265173	NA	Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.396C>T	3.37:g.42672059C>T		NA		37	CCDS2702.1																																																																																			NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256642.2		+	ENST00000232978.8	Silent	SNP	3 : 42672059 - 42672059 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	417	67
MAGEB6	158809	broad.mit.edu	37	X	26212149	26212149	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:26212149G>T	ENST00000379034.1	+	2	335	c.186G>T	c.(184-186)caG>caT	p.Q62H		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	62	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CCATTCCTCAGGAGTCTCAGG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	98	103			NA	NA	X		NA											NA				26212149		2202	4300	6502	SO:0001583	missense			AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746	158809	158809			23796	protein-coding gene	gene with protein product	cancer/testis antigen family 3, member 4	300467			NA	10861452	Standard	NM_173523	NM_173523	NA	Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.186G>T	X.37:g.26212149G>T	ENSP00000368320:p.Gln62His	NA	Q6GS19|Q9H219	37	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503317	0.26949	.	.	ENSG00000176746	ENST00000379034	T	0.08458	3.09	1.59	0.603	0.17541	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.08358	0.0208	L	0.58354	1.805	0.09310	N	1	B	0.28605	0.217	B	0.22753	0.041	T	0.27536	-1.0071	9	0.59425	D	0.04	.	5.1954	0.15233	0.0:0.3673:0.6327:0.0	.	62	Q8N7X4	MAGB6_HUMAN	H	62	ENSP00000368320:Q62H	ENSP00000368320:Q62H	Q	+	3	2	MAGEB6	26122070	0.000000	0.05858	0.003000	0.11579	0.165000	0.22458	-0.243000	0.08915	0.121000	0.18284	0.429000	0.28392	CAG	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056123.1		+	ENST00000379034.1	Missense_Mutation	SNP	X : 26212149 - 26212149 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	276	83
KPNA5	3841	broad.mit.edu	37	6	117037383	117037383	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117037383T>C	ENST00000368564.1	+	8	806	c.658T>C	c.(658-660)Tta>Cta	p.L220L	KPNA5_ENST00000356348.1_Splice_Site_p.L220L			O15131	IMA5_HUMAN	karyopherin alpha 5 (importin alpha 6)	217	NLS binding site (major) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TCTTGGCAGGTTATTAACAAA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	56	55			NA	NA	6		NA											NA				117037383		2203	4300	6503	SO:0001630	splice_region_variant			AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911	3841	3841		Importins, Armadillo repeat containing	6398	protein-coding gene	gene with protein product		604545			NA	9395085	Standard	NM_002269	NM_002269	NA	Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.657-1T>C	6.37:g.117037383T>C		NA	B2RAI5|Q86X23	37	CCDS5111.1																																																																																			KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041967.1	Silent	+	ENST00000368564.1	Splice_Site	SNP	6 : 117037383 - 117037383 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	304	52
SYNE2	23224	broad.mit.edu	37	14	64518467	64518467	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64518467G>T	ENST00000554584.1	+	48	7986	c.7935G>T	c.(7933-7935)caG>caT	p.Q2645H	SYNE2_ENST00000358025.3_Missense_Mutation_p.Q2612H|SYNE2_ENST00000344113.4_Missense_Mutation_p.Q2612H|SYNE2_ENST00000357395.3_5'UTR			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2612					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGTGGAACAGCAGATTCAAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	98	100			NA	NA	14		NA											NA				64518467		1907	4121	6028	SO:0001583	missense			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654	23224	23224			17084	protein-coding gene	gene with protein product	nuclear envelope spectrin repeat-2, nucleus and actin connecting element	608442			NA	10231032, 10878022	Standard	NM_182914	NM_182910	NA	Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000554584.1:c.7935G>T	14.37:g.64518467G>T	ENSP00000452570:p.Gln2645His	NA	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	37		.	.	.	.	.	.	.	.	.	.	G	0.133	-1.111435	0.01813	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.58358	1.27;1.27;0.34	5.91	-11.5	0.00074	.	0.216802	0.32386	N	0.006174	T	0.32763	0.0840	L	0.34521	1.04	0.58432	D	0.999992	B;B	0.24368	0.062;0.102	B;B	0.25759	0.028;0.063	T	0.37079	-0.9721	10	0.46703	T	0.11	.	14.6757	0.68978	0.2302:0.2164:0.5534:0.0	.	2612;2612	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	H	2612;2612;2645;2645	ENSP00000350719:Q2612H;ENSP00000341781:Q2612H;ENSP00000452570:Q2645H	ENSP00000261678:Q2645H	Q	+	3	2	SYNE2	63588220	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-3.055000	0.00626	-2.273000	0.00681	-1.053000	0.02334	CAG	SYNE2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000411905.1		+	ENST00000554584.1	Missense_Mutation	SNP	14 : 64518467 - 64518467 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	474	81
PLD3	23646	broad.mit.edu	37	19	40884077	40884077	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40884077C>A	ENST00000409587.1	+	13	1867	c.1470C>A	c.(1468-1470)ctC>ctA	p.L490L	PLD3_ENST00000356508.5_Silent_p.L490L|PLD3_ENST00000409281.1_Silent_p.L490L|PLD3_ENST00000409735.4_Silent_p.L490L|PLD3_ENST00000409419.1_Silent_p.L490L			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	490					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GCCGCCTGCTCTGAGGCCCGA	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	62	62			NA	NA	19		NA											NA				40884077		2203	4299	6502	SO:0001819	synonymous_variant			BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223	23646	23646			17158	protein-coding gene	gene with protein product		615698	phospholipase D3		NA	9140189, 15794758	Standard	NM_012268	XM_005258704	NA	Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.1470C>A	19.37:g.40884077C>A		NA	Q92853|Q9BW87	37	CCDS33027.1																																																																																			PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327721.1		+	ENST00000409587.1	Silent	SNP	19 : 40884077 - 40884077 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	707	123
C21orf91	54149	broad.mit.edu	37	21	19169392	19169392	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:19169392G>A	ENST00000400558.3	-	3	261	c.171C>T	c.(169-171)ggC>ggT	p.G57G	C21orf91_ENST00000400559.3_Silent_p.G57G|C21orf91_ENST00000493464.1_5'UTR|AL109761.5_ENST00000428689.1_RNA|C21orf91_ENST00000284881.4_Silent_p.G57G	NM_001100421.1	NP_001093891.1	Q9NYK6	EURL_HUMAN	chromosome 21 open reading frame 91	57										endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		AGTCTTTATGGCCCCTTAATG	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	70	71			NA	NA	21		NA											NA				19169392		1823	4069	5892	SO:0001819	synonymous_variant			AF239726	CCDS42907.1, CCDS42908.1, CCDS42909.1	21q21.1	2011-12-12	2003-07-22		ENSG00000154642	ENSG00000154642	54149	54149			16459	protein-coding gene	gene with protein product	cold sore susceptibility gene 1, early undifferentiated retina and lens		chromosome 21 open reading frame 38	C21orf38, C21orf14	NA	22039568	Standard	NM_017447	NM_001100421	NA	Approved	YG81, EURL, CSSG1	uc002yko.4	Q9NYK6	OTTHUMG00000074509	ENST00000400558.3:c.171C>T	21.37:g.19169392G>A		NA	B2RB30|Q96BK9|Q9H8C6	37	CCDS42909.1																																																																																			C21orf91-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000158214.1		-	ENST00000400558.3	Silent	SNP	21 : 19169392 - 19169392 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	434	62
USH2A	7399	broad.mit.edu	37	1	216019173	216019173	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216019173G>A	ENST00000307340.3	-	45	9434	c.9048C>T	c.(9046-9048)tgC>tgT	p.C3016C	USH2A_ENST00000366943.2_Silent_p.C3016C	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3016					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.C3016C(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CACCCCCATCGCAAGTGGTTG	0.448		NA								HNSCC(13;0.011)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	endometrium(1)											77	72	74			NA	NA	1		NA											NA				216019173		2203	4300	6503	SO:0001819	synonymous_variant			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781	7399	7399		Fibronectin type III domain containing	12601	protein-coding gene	gene with protein product	usherin	608400		USH2	NA	9624053, 10729113	Standard	NM_007123	NM_007123	NA	Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9048C>T	1.37:g.216019173G>A		NA	Q5VVM9|Q6S362|Q9NS27	37	CCDS31025.1																																																																																			USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128138.1		-	ENST00000307340.3	Silent	SNP	1 : 216019173 - 216019173 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	37
TTN	7273	broad.mit.edu	37	2	179393838	179393838	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179393838G>T	ENST00000589042.1	-	360	106864	c.106640C>A	c.(106639-106641)tCt>tAt	p.S35547Y	TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S32979Y|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S26482Y|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S26607Y|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S26674Y|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S33906Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33906							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTTCTTCAGACCTTAGGGC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	55	56			NA	NA	2		NA											NA				179393838		1814	4069	5883	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.106640C>A	2.37:g.179393838G>T	ENSP00000467141:p.Ser35547Tyr	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689384	0.48097	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68624	-0.34;0.14;0.12;0.11	5.54	5.54	0.83059	Ribonuclease H-like (1);	.	.	.	.	T	0.70334	0.3212	N	0.19112	0.55	0.39804	D	0.972609	D;D;D;D	0.61697	0.99;0.99;0.99;0.99	D;D;D;D	0.71656	0.974;0.974;0.974;0.974	T	0.75431	-0.3320	9	0.87932	D	0	.	14.9955	0.71428	0.0:0.0:1.0:0.0	.	26482;26607;26674;33906	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	32979;26482;26674;26607;26479	ENSP00000343764:S32979Y;ENSP00000434586:S26482Y;ENSP00000340554:S26674Y;ENSP00000352154:S26607Y	ENSP00000340554:S26674Y	S	-	2	0	TTN	179102084	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	5.390000	0.66261	2.607000	0.88179	0.655000	0.94253	TCT	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179393838 - 179393838 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	185	46
MKRN3	7681	broad.mit.edu	37	15	23811271	23811271	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23811271C>A	ENST00000564592.1	+	1	315				MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000314520.3_Missense_Mutation_p.N114K			Q13064	MKRN3_HUMAN	makorin ring finger protein 3	NA						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AGGGGGAGAACTGTCGCTATT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	63	62			NA	NA	15		NA											NA				23811271		2203	4300	6503	SO:0001627	intron_variant			U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455	7681	7681		RING-type (C3HC4) zinc fingers	7114	protein-coding gene	gene with protein product	zinc finger protein 127	603856		ZNF127, D15S9	NA	10196367	Standard	NM_005664	NM_005664	NA	Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000564592.1:c.305+37C>A	15.37:g.23811271C>A		NA		37		.	.	.	.	.	.	.	.	.	.	C	15.65	2.896754	0.52121	.	.	ENSG00000179455	ENST00000314520	T	0.43294	0.95	3.94	-0.124	0.13523	Zinc finger, CCCH-type (2);	0.251054	0.38005	N	0.001852	T	0.19046	0.0457	N	0.21282	0.65	0.50313	D	0.999868	B	0.33266	0.404	B	0.24848	0.056	T	0.05273	-1.0895	10	0.22706	T	0.39	.	4.5958	0.12329	0.0:0.4436:0.3527:0.2036	.	114	Q13064	MKRN3_HUMAN	K	114	ENSP00000313881:N114K	ENSP00000313881:N114K	N	+	3	2	MKRN3	21362364	0.974000	0.33945	0.990000	0.47175	0.972000	0.66771	0.082000	0.14847	-0.002000	0.14469	0.563000	0.77884	AAC	MKRN3-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000431941.1		+	ENST00000564592.1	Intron	SNP	15 : 23811271 - 23811271 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	401	83
PTPRM	5797	broad.mit.edu	37	18	7926650	7926650	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7926650G>T	ENST00000332175.8	+	5	1669	c.632G>T	c.(631-633)aGg>aTg	p.R211M	PTPRM_ENST00000400053.4_Missense_Mutation_p.R149M|PTPRM_ENST00000400060.4_Missense_Mutation_p.R211M|PTPRM_ENST00000580170.1_Missense_Mutation_p.R211M	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	211	Ig-like C2-type.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GCCATCGGCAGGACCGTGGCA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	80	81			NA	NA	18		NA											NA				7926650		2203	4300	6503	SO:0001583	missense			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482	5797	5797		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	9675	protein-coding gene	gene with protein product		176888		PTPRL1	NA	1655529, 8404049	Standard		NM_002845	NA	Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.632G>T	18.37:g.7926650G>T	ENSP00000331418:p.Arg211Met	NA	D3DUH8	37	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926527	0.52759	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053	T;T;T	0.22743	1.94;1.94;1.94	5.54	5.54	0.83059	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.104379	0.64402	D	0.000006	T	0.20129	0.0484	L	0.47190	1.495	0.80722	D	1	P;P	0.38827	0.649;0.649	B;B	0.37091	0.241;0.241	T	0.01684	-1.1296	10	0.87932	D	0	.	10.9831	0.47506	0.1443:0.0:0.8557:0.0	.	211;211	A7MBN1;P28827	.;PTPRM_HUMAN	M	211;211;149	ENSP00000331418:R211M;ENSP00000382933:R211M;ENSP00000382927:R149M	ENSP00000331418:R211M	R	+	2	0	PTPRM	7916650	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.022000	0.49659	2.602000	0.87976	0.563000	0.77884	AGG	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254456.1		+	ENST00000332175.8	Missense_Mutation	SNP	18 : 7926650 - 7926650 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	377	58
SBSPON	157869	broad.mit.edu	37	8	74005092	74005092	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:74005092G>T	ENST00000297354.6	-	1	415	c.211C>A	c.(211-213)Cca>Aca	p.P71T	SBSPON_ENST00000519697.1_Intron	NM_153225.3	NP_694957.3	Q8IVN8	RPESP_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	71	SMB.				immune response	extracellular region	polysaccharide binding|scavenger receptor activity				NA						CACCCACCTGGGCACGCCCTG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	28	25			NA	NA	8		NA											NA				74005092		1980	4148	6128	SO:0001583	missense				CCDS43747.2	8q21.11	2013-08-07	2012-05-15	2012-05-15	ENSG00000164764	ENSG00000164764	157869	157869			30362	protein-coding gene	gene with protein product	RPE spondin, rpe-spondin		chromosome 8 open reading frame 84	C8orf84	NA	12107410	Standard	NM_153225	NM_153225	NA	Approved	RPESP	uc003xzf.3	Q8IVN8	OTTHUMG00000157144	ENST00000297354.6:c.211C>A	8.37:g.74005092G>T	ENSP00000297354:p.Pro71Thr	NA	A8KAA5|Q96J64	37	CCDS43747.2	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790440	0.90367	.	.	ENSG00000164764	ENST00000297354	T	0.34275	1.37	5.15	5.15	0.70609	Somatomedin B domain (1);	0.000000	0.85682	D	0.000000	T	0.52306	0.1726	M	0.70903	2.155	0.80722	D	1	D	0.59767	0.986	P	0.53035	0.716	T	0.56505	-0.7968	10	0.54805	T	0.06	.	17.4542	0.87602	0.0:0.0:1.0:0.0	.	71	Q8IVN8	RPESP_HUMAN	T	71	ENSP00000297354:P71T	ENSP00000297354:P71T	P	-	1	0	C8orf84	74167646	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.030000	0.88816	2.388000	0.81334	0.558000	0.71614	CCA	SBSPON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347584.2		-	ENST00000297354.6	Missense_Mutation	SNP	8 : 74005092 - 74005092 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	183	30
ITK	3702	broad.mit.edu	37	5	156635904	156635904	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156635904A>C	ENST00000422843.3	+	2	295	c.143A>C	c.(142-144)aAg>aCg	p.K48T	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	48	PH.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCACAGAAGAAGCGCACGCTG	0.433		NA	T	SYK	peripheral T-cell lymphoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(70;1378 1469 8785 19883)		Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	0													87	81	83			NA	NA	5		NA											NA				156635904		2203	4300	6503	SO:0001583	missense			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263	3702	3702		Pleckstrin homology (PH) domain containing, SH2 domain containing	6171	protein-coding gene	gene with protein product		186973			NA	8364206	Standard		NM_005546	NA	Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.143A>C	5.37:g.156635904A>C	ENSP00000398655:p.Lys48Thr	NA	B2R752|Q32ML7	37	CCDS4336.1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.627245	0.66901	.	.	ENSG00000113263	ENST00000422843	D	0.93488	-3.23	5.31	5.31	0.75309	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.95249	0.8459	M	0.71206	2.165	0.51767	D	0.999931	D	0.69078	0.997	D	0.63793	0.918	D	0.95208	0.8323	10	0.72032	D	0.01	.	9.629	0.39768	0.844:0.0:0.0:0.156	.	48	Q08881	ITK_HUMAN	T	48	ENSP00000398655:K48T	ENSP00000398655:K48T	K	+	2	0	ITK	156568482	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	5.514000	0.67043	1.989000	0.58080	0.459000	0.35465	AAG	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252569.2		+	ENST00000422843.3	Missense_Mutation	SNP	5 : 156635904 - 156635904 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	161	24
CASP10	843	broad.mit.edu	37	2	202050562	202050562	+	Missense_Mutation	SNP	G	G	A	rs140813639	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202050562G>A	ENST00000286186.6	+	2	497	c.62G>A	c.(61-63)cGt>cAt	p.R21H	CASP10_ENST00000448480.1_Missense_Mutation_p.R21H|CASP10_ENST00000346817.5_Missense_Mutation_p.R21H|CASP10_ENST00000272879.5_Missense_Mutation_p.R21H|CASP10_ENST00000313728.7_Missense_Mutation_p.R21H|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000360132.3_Missense_Mutation_p.R21H|CASP10_ENST00000374650.3_Missense_Mutation_p.R21H	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	21	DED 1.		R -> C (found in a multiple myeloma sample; somatic mutation).		apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GTGAGCTTTCGTGAGAAGCTT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	72	77	75		62,62,62,62,62,62	3.3	0	2	dbSNP_134	75	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense,missense,missense,missense	CASP10	NM_001206524.1,NM_001206542.1,NM_001230.4,NM_032974.4,NM_032976.3,NM_032977.3	29,29,29,29,29,29	0,4,6499	AA,AG,GG	NA	0.0465,0.0,0.0308	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	21/456,21/479,21/480,21/522,21/274,21/523	202050562	4,13002	2203	4300	6503	SO:0001583	missense			U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	843	843	3.4.22.63	Caspases	1500	protein-coding gene	gene with protein product		601762	caspase 10, apoptosis-related cysteine protease		NA	8755496	Standard	NM_032977	NM_032974	NA	Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000286186.6:c.62G>A	2.37:g.202050562G>A	ENSP00000286186:p.Arg21His	NA	Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	37	CCDS2340.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591814	0.46214	0.0	4.65E-4	ENSG00000003400	ENST00000286186;ENST00000360132;ENST00000272879;ENST00000374650;ENST00000346817;ENST00000313728;ENST00000448480	D;D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	5.13	3.29	0.37713	DEATH-like (2);Death effector (3);	0.912306	0.09231	N	0.830544	D	0.88994	0.6589	M	0.62266	1.93	0.09310	N	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.76071	0.978;0.975;0.987;0.98;0.968;0.984	T	0.76027	-0.3109	10	0.72032	D	0.01	.	9.6803	0.40065	0.1771:0.0:0.8229:0.0	.	21;21;21;21;21;21	Q92851-6;Q92851-5;Q92851;Q92851-2;Q92851-4;Q68HC0	.;.;CASPA_HUMAN;.;.;.	H	21	ENSP00000286186:R21H;ENSP00000353250:R21H;ENSP00000272879:R21H;ENSP00000363781:R21H;ENSP00000237865:R21H;ENSP00000314599:R21H;ENSP00000396835:R21H	ENSP00000272879:R21H	R	+	2	0	CASP10	201758807	0.201000	0.23410	0.021000	0.16686	0.036000	0.12997	0.779000	0.26746	1.286000	0.44565	0.655000	0.94253	CGT	CASP10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256272.2		+	ENST00000286186.6	Missense_Mutation	SNP	2 : 202050562 - 202050562 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	633	155
DCHS1	8642	broad.mit.edu	37	11	6647793	6647793	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6647793C>T	ENST00000299441.3	-	15	6765	c.6354G>A	c.(6352-6354)caG>caA	p.Q2118Q		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2118	Cadherin 20.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGTACTAGGCTGGATGGAGA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	142	145			NA	NA	11		NA											NA				6647793		2201	4296	6497	SO:0001819	synonymous_variant			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341	8642	8642		Cadherins / Cadherin-related	13681	protein-coding gene	gene with protein product	cadherin-related family member 6	603057	protocadherin 16, dachsous 1 (Drosophila)	CDH25, PCDH16	NA	9199196	Standard	NM_003737	XM_005253207	NA	Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.6354G>A	11.37:g.6647793C>T		NA	O15098	37	CCDS7771.1																																																																																			DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257258.1		-	ENST00000299441.3	Silent	SNP	11 : 6647793 - 6647793 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	537	37
CDH22	64405	broad.mit.edu	37	20	44815312	44815312	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44815312G>A	ENST00000372262.3	-	9	1978	c.1578C>T	c.(1576-1578)gaC>gaT	p.D526D	CDH22_ENST00000537909.1_Silent_p.D526D	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	526	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CTTGGGGCTCGTCTCTGTCCA	0.587		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	73	69	70		1578	-5.2	1	20		70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CDH22	NM_021248.1		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		526/829	44815312	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654	64405	64405		Cadherins / Major cadherins	13251	protein-coding gene	gene with protein product		609920	cadherin-like 22	C20orf25	NA	8626716	Standard	NM_021248	NM_021248	NA	Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1578C>T	20.37:g.44815312G>A		NA	B9EGK7|O43205	37	CCDS13395.1																																																																																			CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080491.1		-	ENST00000372262.3	Silent	SNP	20 : 44815312 - 44815312 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	307	68
NRD1	4898	broad.mit.edu	37	1	52254946	52254946	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52254946T>G	ENST00000354831.7	-	33	3811	c.3622A>C	c.(3622-3624)Aca>Cca	p.T1208P	NRD1_ENST00000539524.1_Missense_Mutation_p.T1076P|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Missense_Mutation_p.T1140P	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	1139					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AGGTTGAGTGTTGTTGTGAAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	153	157			NA	NA	1		NA											NA				52254946		2203	4300	6503	SO:0001583	missense			X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618	4898	4898			7995	protein-coding gene	gene with protein product		602651			NA	9581555, 9479496	Standard	NM_002525	NM_002525	NA	Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.3622A>C	1.37:g.52254946T>G	ENSP00000346890:p.Thr1208Pro	NA	A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	37	CCDS559.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	13.08|13.08|13.08	2.130634|2.130634|2.130634	0.37630|0.37630|0.37630	.|.|.	.|.|.	ENSG00000078618|ENSG00000078618|ENSG00000078618	ENST00000440943|ENST00000546169|ENST00000352171;ENST00000354831;ENST00000539524;ENST00000371665	.|.|T;T;T	.|.|0.32988	.|.|1.43;1.44;1.43	5.75|5.75|5.75	5.75|5.75|5.75	0.90469|0.90469|0.90469	.|.|.	.|.|0.347388	.|.|0.34777	.|.|N	.|.|0.003685	T|T|T	0.22666|0.22666|0.22666	0.0547|0.0547|0.0547	N|N|N	0.25647|0.25647|0.25647	0.755|0.755|0.755	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|B;B	.|.|0.17038	.|.|0.009;0.02	.|.|B;B	.|.|0.12156	.|.|0.005;0.007	T|T|T	0.03829|0.03829|0.03829	-1.1000|-1.1000|-1.1000	5|6|10	.|0.72032|0.46703	.|D|T	.|0.01|0.11	-0.2449|-0.2449|-0.2449	11.2735|11.2735|11.2735	0.49153|0.49153|0.49153	0.0:0.0:0.1525:0.8475|0.0:0.0:0.1525:0.8475|0.0:0.0:0.1525:0.8475	.|.|.	.|.|1139;1208	.|.|O43847;B1AKJ5	.|.|NRDC_HUMAN;.	T|H|P	526|1139|1140;1208;1076;542	.|.|ENSP00000262679:T1140P;ENSP00000346890:T1208P;ENSP00000444416:T1076P	.|ENSP00000437424:Q1139H|ENSP00000262679:T1140P	N|Q|T	-|-|-	2|3|1	0|2|0	NRD1|NRD1|NRD1	52027534|52027534|52027534	0.294000|0.294000|0.294000	0.24380|0.24380|0.24380	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.995000|0.995000|0.995000	0.86356|0.86356|0.86356	0.592000|0.592000|0.592000	0.23984|0.23984|0.23984	2.202000|2.202000|2.202000	0.70862|0.70862|0.70862	0.528000|0.528000|0.528000	0.53228|0.53228|0.53228	AAC|CAA|ACA	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000023045.1		-	ENST00000354831.7	Missense_Mutation	SNP	1 : 52254946 - 52254946 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	525	109
SLC9A5	6553	broad.mit.edu	37	16	67289057	67289057	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67289057C>T	ENST00000561472.2	+	0	357				SLC9A5_ENST00000299798.11_Silent_p.G208G			Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	NA					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TCGTCTTTGGCGAGTCCCTGC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	117	117			NA	NA	16		NA											NA				67289057		2181	4284	6465	SO:0001624	3_prime_UTR_variant				CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740	6553	6553		Solute carriers	11078	protein-coding gene	gene with protein product		600477	solute carrier family 9 (sodium/hydrogen exchanger), isoform 5, solute carrier family 9 (sodium/hydrogen exchanger), member 5		NA	7759094, 9933642	Standard		NM_004594	NA	Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000561472.2:c.*354C>T	16.37:g.67289057C>T		NA	A5PKY7|Q9Y626	37																																																																																				SLC9A5-009	KNOWN	NMD_likely_if_extended|basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000421388.2		+	ENST00000561472.2	3'UTR	SNP	16 : 67289057 - 67289057 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	488	107
DHX36	170506	broad.mit.edu	37	3	154002724	154002724	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:154002724C>T	ENST00000496811.1	-	18	2164	c.2084G>A	c.(2083-2085)cGa>cAa	p.R695Q	DHX36_ENST00000329463.5_Missense_Mutation_p.R681Q|DHX36_ENST00000544526.1_Missense_Mutation_p.R681Q|DHX36_ENST00000308361.6_Missense_Mutation_p.R695Q	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	695						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AACGGGTAATCGTGCCAAGTG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	121	122			NA	NA	3		NA											NA				154002724		2203	4300	6503	SO:0001583	missense			AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953	170506	170506		DEAH-boxes	14410	protein-coding gene	gene with protein product		612767	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36	DDX36	NA		Standard	NM_020865	NM_020865	NA	Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.2084G>A	3.37:g.154002724C>T	ENSP00000417078:p.Arg695Gln	NA	B2RB00|Q70JU3|Q8IYE5|Q9P240	37	CCDS3171.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.715414|4.715414	0.89112|0.89112	.|.	.|.	ENSG00000174953|ENSG00000174953	ENST00000469977|ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	.|T;T;T;T;T	.|0.29655	.|1.56;1.56;1.56;1.56;1.56	5.56|5.56	5.56|5.56	0.83823|0.83823	.|Helicase-associated domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.30510|0.30510	0.0767|0.0767	L|L	0.38692|0.38692	1.165|1.165	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.43662	.|0.608;0.608;0.814	.|B;B;B	.|0.41691	.|0.249;0.358;0.364	T|T	0.01648|0.01648	-1.1304|-1.1304	5|10	.|0.33141	.|T	.|0.24	.|.	19.5978|19.5978	0.95548|0.95548	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|681;695;695	.|Q9H2U1-2;Q9H2U1-3;Q9H2U1	.|.;.;DHX36_HUMAN	N|Q	142|695;695;681;681;609	.|ENSP00000417078:R695Q;ENSP00000309296:R695Q;ENSP00000444247:R681Q;ENSP00000330113:R681Q;ENSP00000419862:R609Q	.|ENSP00000309296:R695Q	D|R	-|-	1|2	0|0	DHX36|DHX36	155485418|155485418	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.990000|0.990000	0.78478|0.78478	7.662000|7.662000	0.83803|0.83803	2.642000|2.642000	0.89623|0.89623	0.650000|0.650000	0.86243|0.86243	GAT|CGA	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353349.1		-	ENST00000496811.1	Missense_Mutation	SNP	3 : 154002724 - 154002724 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	517	90
LRRC16A	55604	broad.mit.edu	37	6	25450163	25450163	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25450163C>T	ENST00000329474.6	+	6	777	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	LRRC16A_ENST00000377969.3_5'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	137					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GCCATCTGAGCGCCTGGCTAG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	50	49			NA	NA	6		NA											NA				25450163		1846	4086	5932	SO:0001583	missense			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691	55604	55604			21581	protein-coding gene	gene with protein product	capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)	609593	leucine rich repeat containing 16	LRRC16	NA	19846667	Standard	NM_017640	NM_017640	NA	Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.409C>T	6.37:g.25450163C>T	ENSP00000331983:p.Arg137Cys	NA	Q6ZUH5|Q6ZW07|Q9NXU7	37	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021304	0.75275	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.21734	1.99	5.65	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.40067	0.1102	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.13710	-1.0499	10	0.52906	T	0.07	.	15.3826	0.74673	0.2163:0.7837:0.0:0.0	.	137;137;137	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	C	137	ENSP00000331983:R137C	ENSP00000331983:R137C	R	+	1	0	LRRC16A	25558142	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.281000	0.33214	2.824000	0.97209	0.655000	0.94253	CGC	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040045.2		+	ENST00000329474.6	Missense_Mutation	SNP	6 : 25450163 - 25450163 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	186	35
NEGR1	257194	broad.mit.edu	37	1	72241933	72241933	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:72241933C>T	ENST00000357731.5	-	3	696	c.457G>A	c.(457-459)Gga>Aga	p.G153R	NEGR1_ENST00000306821.3_Missense_Mutation_p.G25R|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Missense_Mutation_p.G151R	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	NA	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		ACGTTGGTTCCTTCATTGACG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	104	107			NA	NA	1		NA											NA				72241933		2203	4300	6503	SO:0001583	missense			AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260	257194	257194		Immunoglobulin superfamily / I-set domain containing	17302	protein-coding gene	gene with protein product	a kindred of IgLON, neurotractin, IgLON family member 4	613173			NA	10075727	Standard	NM_173808	NM_173808	NA	Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.457G>A	1.37:g.72241933C>T	ENSP00000350364:p.Gly153Arg	NA	Q5VT21|Q6UY06|Q8NAQ3	37	CCDS661.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679154	0.68042	.	.	ENSG00000172260	ENST00000357731;ENST00000306821;ENST00000434200	T;T;T	0.81330	-1.48;-1.48;-1.48	5.88	5.88	0.94601	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.92427	0.7596	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.97110	1.0;0.946	D	0.93664	0.6984	10	0.87932	D	0	-8.9553	18.9902	0.92788	0.0:1.0:0.0:0.0	.	151;153	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	R	153;25;151	ENSP00000350364:G153R;ENSP00000305938:G25R;ENSP00000413294:G151R	ENSP00000305938:G25R	G	-	1	0	NEGR1	72014521	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	7.137000	0.77295	2.780000	0.95670	0.655000	0.94253	GGA	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026722.4		-	ENST00000357731.5	Missense_Mutation	SNP	1 : 72241933 - 72241933 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	140	19
PCDH15	65217	broad.mit.edu	37	10	55600201	55600201	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55600201A>T	ENST00000373965.2	-	30	4277	c.3883T>A	c.(3883-3885)Tcc>Acc	p.S1295T	PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395430.1_Missense_Mutation_p.S1288T|PCDH15_ENST00000395433.1_Missense_Mutation_p.S1266T|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.S899T|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.S1288T|PCDH15_ENST00000414778.1_Missense_Mutation_p.S1293T|PCDH15_ENST00000361849.3_Missense_Mutation_p.S1288T|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.S1217T|PCDH15_ENST00000395438.1_Missense_Mutation_p.S1288T|PCDH15_ENST00000395432.2_Missense_Mutation_p.S1251T|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.S1295T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1288					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCTCCAATGGACTCCACTACG	0.458		NA								HNSCC(58;0.16)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	100	104			NA	NA	10		NA											NA				55600201		2203	4300	6503	SO:0001583	missense			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275	65217	65217		Cadherins / Cadherin-related	14674	protein-coding gene	gene with protein product	cadherin-related family member 15	605514	deafness, autosomal recessive 23, protocadherin 15	USH1F, DFNB23	NA	11398101, 14570705	Standard	NM_033056	NM_033056	NA	Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.3883T>A	10.37:g.55600201A>T	ENSP00000363076:p.Ser1295Thr	NA	A6NL19|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	37		.	.	.	.	.	.	.	.	.	.	A	17.70	3.455461	0.63401	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.58506	0.45;0.49;0.44;0.45;0.4;0.36;0.33;0.39;0.34;0.34;0.34	5.43	5.43	0.79202	.	.	.	.	.	T	0.62974	0.2472	N	0.24115	0.695	0.80722	D	1	D;P;P;P;B;P;D;B;B;B;B;B;P	0.57257	0.979;0.719;0.589;0.589;0.224;0.719;0.979;0.025;0.131;0.131;0.052;0.172;0.589	D;B;B;B;B;B;D;B;B;B;B;B;B	0.74348	0.983;0.241;0.145;0.145;0.145;0.241;0.983;0.061;0.109;0.109;0.083;0.145;0.145	T	0.61888	-0.6970	9	0.32370	T	0.25	.	15.4284	0.75072	1.0:0.0:0.0:0.0	.	1266;1288;1288;1293;1217;1251;1288;1288;1295;1295;1288;1293;1288	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	T	1295;1293;1288;1288;899;1295;1251;1288;1266;1288;1288;1293;1217	ENSP00000363076:S1295T;ENSP00000410304:S1293T;ENSP00000378826:S1288T;ENSP00000386693:S899T;ENSP00000378832:S1295T;ENSP00000378820:S1251T;ENSP00000354950:S1288T;ENSP00000378821:S1266T;ENSP00000322604:S1288T;ENSP00000378818:S1288T;ENSP00000412628:S1217T	ENSP00000322604:S1288T	S	-	1	0	PCDH15	55270207	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.059000	0.64306	2.182000	0.69389	0.472000	0.43445	TCC	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000291336.1		-	ENST00000373965.2	Missense_Mutation	SNP	10 : 55600201 - 55600201 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	376	75
KIF21B	23046	broad.mit.edu	37	1	200974440	200974440	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200974440T>C	ENST00000332129.2	-	5	1044	c.728A>G	c.(727-729)gAc>gGc	p.D243G	KIF21B_ENST00000461742.2_Missense_Mutation_p.D243G|KIF21B_ENST00000360529.5_Missense_Mutation_p.D243G|KIF21B_ENST00000422435.2_Missense_Mutation_p.D243G	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	243	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCTCACCAGGTCGGGCTGGGT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	53	54			NA	NA	1		NA											NA				200974440		2203	4300	6503	SO:0001583	missense			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852	23046	23046		Kinesins, WD repeat domain containing	29442	protein-coding gene	gene with protein product		608322			NA	9455484	Standard	XM_371332	NM_001252100	NA	Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000332129.2:c.728A>G	1.37:g.200974440T>C	ENSP00000328494:p.Asp243Gly	NA	Q5T4J3	37	CCDS30965.1	.	.	.	.	.	.	.	.	.	.	T	14.87	2.664022	0.47572	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92	5.17	1.55	0.23275	Kinesin, motor domain (4);	0.390814	0.28977	N	0.013533	T	0.54951	0.1890	N	0.14661	0.345	0.52501	D	0.99995	B;B;B;B	0.23185	0.081;0.081;0.0;0.066	B;B;B;B	0.24269	0.052;0.052;0.001;0.031	T	0.45760	-0.9239	10	0.72032	D	0.01	.	8.1806	0.31309	0.0:0.3035:0.0:0.6965	.	243;243;243;243	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	G	243	ENSP00000328494:D243G;ENSP00000353724:D243G;ENSP00000433808:D243G;ENSP00000411831:D243G	ENSP00000328494:D243G	D	-	2	0	KIF21B	199241063	1.000000	0.71417	0.956000	0.39512	0.911000	0.54048	3.857000	0.55972	0.014000	0.14944	0.533000	0.62120	GAC	KIF21B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087055.2		-	ENST00000332129.2	Missense_Mutation	SNP	1 : 200974440 - 200974440 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	461	74
RHBDD2	57414	broad.mit.edu	37	7	75511175	75511175	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75511175C>T	ENST00000468304.1	+	2	211				RHBDD2_ENST00000318622.4_5'UTR|RHBDD2_ENST00000006777.6_Silent_p.V69V			Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	NA						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						ACATCTTTGTCTACGAGAATC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	95	93			NA	NA	7		NA											NA				75511175		2009	4173	6182	SO:0001627	intron_variant			AF226732	CCDS43602.1, CCDS43603.1	7q11	2008-09-04	2006-02-22	2006-02-22	ENSG00000005486	ENSG00000005486	57414	57414			23082	protein-coding gene	gene with protein product		615203	rhomboid, veinlet-like 7 (Drosophila)	RHBDL7	NA	12838346	Standard	NM_020684	XM_005250511	NA	Approved	NPD007	uc003udw.1	Q6NTF9	OTTHUMG00000156435	ENST00000468304.1:c.211+371C>T	7.37:g.75511175C>T		NA	Q7L534|Q9H5W6|Q9UDT2	37																																																																																				RHBDD2-005	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000344180.1		+	ENST00000468304.1	Intron	SNP	7 : 75511175 - 75511175 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	713	160
DPYSL4	10570	broad.mit.edu	37	10	134012464	134012464	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134012464C>T	ENST00000338492.4	+	8	964	c.800C>T	c.(799-801)gCc>gTc	p.A267V	DPYSL4_ENST00000368629.1_Missense_Mutation_p.A167V|DPYSL4_ENST00000368627.1_Missense_Mutation_p.A167V	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	267					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		ATCGCTCAGGCCAAGCGCAGA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	47	51			NA	NA	10		NA											NA				134012464		2201	4300	6501	SO:0001583	missense			AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640	10570	10570			3016	protein-coding gene	gene with protein product		608407			NA	8973361, 9652388	Standard		NM_006426	NA	Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.800C>T	10.37:g.134012464C>T	ENSP00000339850:p.Ala267Val	NA	B2RMQ1|D3DRG5|O00240|Q5T0Q7	37	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099403	0.94197	.	.	ENSG00000151640	ENST00000338492;ENST00000368629;ENST00000368627	D;D;D	0.92545	-3.06;-3.06;-3.06	3.94	3.94	0.45596	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.97324	0.9125	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98832	1.0751	10	0.87932	D	0	-8.8405	16.6038	0.84823	0.0:1.0:0.0:0.0	.	267	O14531	DPYL4_HUMAN	V	267;167;167	ENSP00000339850:A267V;ENSP00000357618:A167V;ENSP00000357616:A167V	ENSP00000339850:A267V	A	+	2	0	DPYSL4	133862454	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.237000	0.78164	2.209000	0.71365	0.555000	0.69702	GCC	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051050.2		+	ENST00000338492.4	Missense_Mutation	SNP	10 : 134012464 - 134012464 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	66
PCLO	27445	broad.mit.edu	37	7	82453619	82453619	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82453619G>A	ENST00000333891.9	-	19	14866	c.14529C>T	c.(14527-14529)agC>agT	p.S4843S	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000423517.2_Silent_p.S4843S	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	NA					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGACTGCTGGCTGCTCTGAC	0.423		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	7		NA											NA				82453619		2001	4184	6185	SO:0001819	synonymous_variant			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472	27445	27445			13406	protein-coding gene	gene with protein product	aczonin	604918	piccolo (presynaptic cytomatrix protein)		NA	8900486, 9628581	Standard	NM_014510	NM_014510	NA	Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.14529C>T	7.37:g.82453619G>A		NA	A4D1A7|A6NNX9|O43373|O60305|Q08E72|Q9BVC8|Q9UIV2|Q9Y6U9	37	CCDS47630.1																																																																																			PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337368.5		-	ENST00000333891.9	Silent	SNP	7 : 82453619 - 82453619 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	164	37
COL7A1	1294	broad.mit.edu	37	3	48621004	48621004	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48621004C>T	ENST00000328333.8	-	40	4493	c.4386G>A	c.(4384-4386)ggG>ggA	p.G1462G	COL7A1_ENST00000454817.1_Silent_p.G1462G	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1462	Interrupted collagenous region.|Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CACCCGGAGACCCAGGTTGTC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	47	46			NA	NA	3		NA											NA				48621004		2203	4300	6503	SO:0001819	synonymous_variant			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270	1294	1294		Collagens, Fibronectin type III domain containing	2214	protein-coding gene	gene with protein product	collagen VII, alpha-1 polypeptide, LC collagen	120120	epidermolysis bullosa, dystrophic, dominant and recessive	EBDCT, EBD1, EBR1	NA	1871109	Standard	NM_000094	NM_000094	NA	Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.4386G>A	3.37:g.48621004C>T		NA	Q14054|Q16507	37	CCDS2773.1																																																																																			COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257519.1		-	ENST00000328333.8	Silent	SNP	3 : 48621004 - 48621004 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	333	49
MAGI2	9863	broad.mit.edu	37	7	77975329	77975329	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77975329G>A	ENST00000354212.4	-	8	1388	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	MAGI2_ENST00000536571.1_Missense_Mutation_p.P211S|MAGI2_ENST00000419488.1_Missense_Mutation_p.P379S|MAGI2_ENST00000522391.1_Missense_Mutation_p.P379S|MAGI2_ENST00000535697.1_Missense_Mutation_p.P216S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	379	Interaction with DDN.|WW 2.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TCCAGGACAGGATTTTCAAAC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													195	183	187			NA	NA	7		NA											NA				77975329		2203	4300	6503	SO:0001583	missense			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391	9863	9863			18957	protein-coding gene	gene with protein product		606382			NA	10681527, 9734811	Standard	NM_012301	XM_005250725	NA	Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1135C>T	7.37:g.77975329G>A	ENSP00000346151:p.Pro379Ser	NA	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	37	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861842	0.91433	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	D;D;D;D;D	0.99382	-5.8;-5.8;-5.8;-5.8;-5.8	5.73	5.73	0.89815	WW/Rsp5/WWP (6);	0.000000	0.36482	U	0.002563	D	0.99701	0.9886	H	0.98068	4.14	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.97426	1.0012	10	0.87932	D	0	.	18.8946	0.92419	0.0:0.0:1.0:0.0	.	216;211;379;379	F5GWH1;F5GWK7;Q86UL8-2;Q86UL8	.;.;.;MAGI2_HUMAN	S	379;379;379;379;211;216	ENSP00000405766:P379S;ENSP00000346151:P379S;ENSP00000428389:P379S;ENSP00000441584:P211S;ENSP00000441603:P216S	ENSP00000346151:P379S	P	-	1	0	MAGI2	77813265	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.476000	0.97823	2.693000	0.91896	0.655000	0.94253	CCT	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253197.3		-	ENST00000354212.4	Missense_Mutation	SNP	7 : 77975329 - 77975329 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	515	91
REL	5966	broad.mit.edu	37	2	61145657	61145657	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61145657G>A	ENST00000295025.8	+	7	1089	c.769G>A	c.(769-771)Gta>Ata	p.V257I	REL_ENST00000394479.3_Missense_Mutation_p.V257I	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	NA	RHD.				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			CACAGAACCCGTAACAGTAAA	0.408		NA	A		Hodgkin Lymphoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		2	2p13-p12	5966	v-rel reticuloendotheliosis viral oncogene homolog (avian)		L	0													117	115	115			NA	NA	2		NA											NA				61145657		2203	4300	6503	SO:0001583	missense			M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924	5966	5966			9954	protein-coding gene	gene with protein product		164910			NA	1577270	Standard	NM_002908	XM_005264470	NA	Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.769G>A	2.37:g.61145657G>A	ENSP00000295025:p.Val257Ile	NA	Q2PNZ7|Q6LDY0	37	CCDS1864.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575881	0.45902	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.54071	0.59;0.59	5.78	5.78	0.91487	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.055514	0.64402	D	0.000001	T	0.41373	0.1156	L	0.48935	1.535	0.48571	D	0.999678	P;P	0.34864	0.473;0.473	B;B	0.17722	0.019;0.019	T	0.34329	-0.9833	10	0.38643	T	0.18	-1.8014	12.7968	0.57564	0.1158:0.0:0.8842:0.0	.	257;257	Q17RU2;Q04864	.;REL_HUMAN	I	257	ENSP00000295025:V257I;ENSP00000377989:V257I	ENSP00000295025:V257I	V	+	1	0	REL	60999161	1.000000	0.71417	0.711000	0.30485	0.846000	0.48090	3.530000	0.53539	2.730000	0.93505	0.655000	0.94253	GTA	REL-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251576.3		+	ENST00000295025.8	Missense_Mutation	SNP	2 : 61145657 - 61145657 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	655	178
TPD52L2	7165	broad.mit.edu	37	20	62514152	62514152	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62514152G>A	ENST00000217121.5	+	5	527	c.455G>A	c.(454-456)aGc>aAc	p.S152N	TPD52L2_ENST00000351424.4_Missense_Mutation_p.S132N|TPD52L2_ENST00000352482.4_Missense_Mutation_p.S152N|TPD52L2_ENST00000348257.5_Missense_Mutation_p.S132N|TPD52L2_ENST00000346249.4_Missense_Mutation_p.S152N|TPD52L2_ENST00000369927.4_Missense_Mutation_p.S109N|TPD52L2_ENST00000358548.4_Missense_Mutation_p.S132N	NM_199360.2	NP_955392.1	O43399	TPD54_HUMAN	tumor protein D52-like 2	152					regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					TCTGCCATCAGCAGGAAGCTT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	73	81			NA	NA	20		NA											NA				62514152		2203	4300	6503	SO:0001583	missense			AF004430	CCDS13540.1, CCDS13541.1, CCDS13542.1, CCDS13543.1, CCDS13544.1, CCDS13545.1, CCDS58785.1, CCDS74752.1, CCDS74753.1	20q13.2-q13.3	2007-12-19			ENSG00000101150	ENSG00000101150	7165	7165			12007	protein-coding gene	gene with protein product		603747			NA	9484778	Standard		NM_199360	NA	Approved	D54, hD54	uc002ygy.3	O43399	OTTHUMG00000033009	ENST00000217121.5:c.455G>A	20.37:g.62514152G>A	ENSP00000217121:p.Ser152Asn	NA	E1P5G7|O43398|Q5JWU5|Q5JWU8|Q9H3Z6	37	CCDS13542.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242139	0.79912	.	.	ENSG00000101150	ENST00000369927;ENST00000346249;ENST00000348257;ENST00000352482;ENST00000351424;ENST00000217121;ENST00000358548	T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87	5.15	5.15	0.70609	.	0.147707	0.64402	D	0.000017	T	0.49201	0.1543	M	0.82193	2.58	0.40483	D	0.980467	P;P;B;D;B;P;P;B;B	0.53885	0.464;0.661;0.433;0.963;0.433;0.454;0.765;0.254;0.433	P;P;P;P;P;B;B;B;P	0.58780	0.579;0.456;0.561;0.845;0.561;0.357;0.357;0.375;0.456	T	0.56792	-0.7920	10	0.72032	D	0.01	-20.0996	13.3671	0.60692	0.0:0.1579:0.8421:0.0	.	109;103;152;132;152;132;132;152;152	B4DPJ6;B4DDV4;Q6FGS1;Q68E05;O43399;O43399-4;O43399-3;Q5U0E0;Q5JWU6	.;.;.;.;TPD54_HUMAN;.;.;.;.	N	109;152;132;152;132;152;132	ENSP00000358943:S109N;ENSP00000343547:S152N;ENSP00000343554:S132N;ENSP00000344647:S152N;ENSP00000340006:S132N;ENSP00000217121:S152N;ENSP00000351350:S132N	ENSP00000217121:S152N	S	+	2	0	TPD52L2	61984596	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.296000	0.72751	2.401000	0.81631	0.561000	0.74099	AGC	TPD52L2-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080249.1		+	ENST00000217121.5	Missense_Mutation	SNP	20 : 62514152 - 62514152 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	233	40
UVRAG	7405	broad.mit.edu	37	11	75599929	75599929	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75599929T>C	ENST00000356136.3	+	5	730	c.489T>C	c.(487-489)ggT>ggC	p.G163G	UVRAG_ENST00000528420.1_Silent_p.G62G	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	163					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						GATACTATGGTGCTCCATTTG	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	91	92			NA	NA	11		NA											NA				75599929		2200	4293	6493	SO:0001819	synonymous_variant			X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382	7405	7405			12640	protein-coding gene	gene with protein product	beclin 1 binding protein	602493	UV radiation resistance associated gene		NA	9169138, 16799551, 18843052	Standard	NM_003369	NM_003369	NA	Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.489T>C	11.37:g.75599929T>C		NA	O00392	37	CCDS8241.1																																																																																			UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383430.1		+	ENST00000356136.3	Silent	SNP	11 : 75599929 - 75599929 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	187	39
HSPA13	6782	broad.mit.edu	37	21	15753528	15753528	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:15753528A>C	ENST00000285667.3	-	2	429	c.362T>G	c.(361-363)tTt>tGt	p.F121C	HSPA13_ENST00000544452.1_De_novo_Start_InFrame|HSPA13_ENST00000478035.1_5'UTR	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	121						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						ACTTACCTTAAATGGGTATCT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	86	85			NA	NA	21		NA											NA				15753528		2203	4300	6503	SO:0001583	missense				CCDS13567.1	21q11.1	2011-09-02	2008-06-17	2008-06-17	ENSG00000155304	ENSG00000155304	6782	6782		Heat shock proteins / HSP70	11375	protein-coding gene	gene with protein product		601100	stress 70 protein chaperone, microsome-associated, 60kD, stress 70 protein chaperone, microsome-associated, 60kDa	STCH	NA	8825657	Standard		NM_006948	NA	Approved		uc002yjt.3	P48723	OTTHUMG00000074261	ENST00000285667.3:c.362T>G	21.37:g.15753528A>C	ENSP00000285667:p.Phe121Cys	NA	B2R616|Q8NE40	37	CCDS13567.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.299836	0.81136	.	.	ENSG00000155304	ENST00000285667	T	0.01084	5.36	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.08935	0.0221	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00451	-1.1731	10	0.87932	D	0	-21.1643	15.8391	0.78831	1.0:0.0:0.0:0.0	.	121	P48723	HSP13_HUMAN	C	121	ENSP00000285667:F121C	ENSP00000285667:F121C	F	-	2	0	HSPA13	14675399	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.958000	0.93099	2.144000	0.66660	0.528000	0.53228	TTT	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157815.1		-	ENST00000285667.3	Missense_Mutation	SNP	21 : 15753528 - 15753528 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	529	119
PRICKLE2	166336	broad.mit.edu	37	3	64084844	64084844	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:64084844G>A	ENST00000295902.6	-	8	3003	c.2418C>T	c.(2416-2418)agC>agT	p.S806S	PRICKLE2_ENST00000564377.1_Silent_p.S862S|RP11-129B22.1_ENST00000482609.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	806						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GCAGCTCATCGCTTGTGACGT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	90	91			NA	NA	3		NA											NA				64084844		2203	4300	6503	SO:0001819	synonymous_variant			AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637	166336	166336			20340	protein-coding gene	gene with protein product		608501	prickle-like 2 (Drosophila)		NA	12525887	Standard	NM_198859	NM_198859	NA	Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2418C>T	3.37:g.64084844G>A		NA	Q0VF44	37	CCDS2902.1																																																																																			PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352219.1		-	ENST00000295902.6	Silent	SNP	3 : 64084844 - 64084844 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	580	109
FAM149A	25854	broad.mit.edu	37	4	187074871	187074871	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187074871C>T	ENST00000502970.1	+	4	577	c.159C>T	c.(157-159)tcC>tcT	p.S53S	FAM149A_ENST00000503432.1_Silent_p.S53S|FAM149A_ENST00000514153.1_Silent_p.S53S|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000356371.5_Silent_p.S344S|FAM149A_ENST00000227065.4_Silent_p.S53S|FAM149A_ENST00000389354.5_Silent_p.S53S			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	344										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		CTCCTGCCTCCGCAGTCCACA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	127	124			NA	NA	4		NA											NA				187074871		2203	4300	6503	SO:0001819	synonymous_variant			AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794	25854	25854			24527	protein-coding gene	gene with protein product					NA		Standard	NM_001006655	NM_015398	NA	Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000502970.1:c.159C>T	4.37:g.187074871C>T		NA	B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	37	CCDS34117.1																																																																																			FAM149A-006	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361206.1		+	ENST00000502970.1	Silent	SNP	4 : 187074871 - 187074871 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1101	223
KLHL12	59349	broad.mit.edu	37	1	202878242	202878242	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202878242C>T	ENST00000367261.3	-	6	946	c.728G>A	c.(727-729)cGc>cAc	p.R243H	KLHL12_ENST00000435533.3_Missense_Mutation_p.R281H|KLHL12_ENST00000367259.1_5'UTR	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	243					Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			TAAACTACAGCGGATGAAAGG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	94	93			NA	NA	1		NA											NA				202878242		2203	4300	6503	SO:0001583	missense			AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153	59349	59349		Kelch-like, BTB/POZ domain containing	19360	protein-coding gene	gene with protein product		614522	kelch-like 12 (Drosophila)		NA	12477932	Standard	NM_021633	NM_021633	NA	Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.728G>A	1.37:g.202878242C>T	ENSP00000356230:p.Arg243His	NA	Q9HBX5	37	CCDS1429.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009934	0.93346	.	.	ENSG00000117153	ENST00000367261;ENST00000435533;ENST00000367258	T;T;T	0.69306	-0.38;-0.39;-0.3	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.80116	0.4564	M	0.82433	2.59	0.80722	D	1	D;D;B	0.71674	0.981;0.998;0.013	B;P;B	0.54346	0.377;0.749;0.002	T	0.83233	-0.0062	10	0.66056	D	0.02	.	19.3442	0.94357	0.0:1.0:0.0:0.0	.	281;281;243	B7Z7B8;A6NEN8;Q53G59	.;.;KLH12_HUMAN	H	243;281;281	ENSP00000356230:R243H;ENSP00000416886:R281H;ENSP00000356227:R281H	ENSP00000356227:R281H	R	-	2	0	KLHL12	201144865	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.358000	0.79466	2.641000	0.89580	0.563000	0.77884	CGC	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000099151.1		-	ENST00000367261.3	Missense_Mutation	SNP	1 : 202878242 - 202878242 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	558	23
ITIH3	3699	broad.mit.edu	37	3	52831234	52831234	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52831234A>G	ENST00000449956.2	+	5	506	c.500A>G	c.(499-501)tAc>tGc	p.Y167C	ITIH3_ENST00000416872.2_Missense_Mutation_p.Y167C	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	167					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AAGGGCAAGTACGAGATGTAC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	54	52			NA	NA	3		NA											NA				52831234		2103	4215	6318	SO:0001583	missense				CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267	3699	3699			6168	protein-coding gene	gene with protein product	pre-alpha (globulin) inhibitor, H3 polypeptide, inter-alpha-trypsin inhibitor heavy chain H3	146650	inter-alpha (globulin) inhibitor, H3 polypeptide, inter-alpha (globulin) inhibitor H3		NA	2465147, 10100603	Standard	NM_002217	NM_002217	NA	Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.500A>G	3.37:g.52831234A>G	ENSP00000415769:p.Tyr167Cys	NA	Q3B7H5|Q53F06|Q6LAM2|Q99085	37	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.353441	0.82243	.	.	ENSG00000162267	ENST00000398670;ENST00000536431;ENST00000273291;ENST00000416872;ENST00000449956	T;T	0.04156	3.69;4.24	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.27629	0.0679	M	0.91561	3.22	0.49389	D	0.999783	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.08411	-1.0723	10	0.72032	D	0.01	-27.3236	13.0967	0.59197	1.0:0.0:0.0:0.0	.	167;167	E7ET33;Q06033	.;ITIH3_HUMAN	C	167;155;162;167;167	ENSP00000413922:Y167C;ENSP00000415769:Y167C	ENSP00000273291:Y162C	Y	+	2	0	ITIH3	52806274	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.287000	0.72671	2.279000	0.76181	0.533000	0.62120	TAC	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352668.2		+	ENST00000449956.2	Missense_Mutation	SNP	3 : 52831234 - 52831234 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	77	6
MED12L	116931	broad.mit.edu	37	3	150877748	150877748	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150877748G>T	ENST00000474524.1	+	7	1005	c.967G>T	c.(967-969)Gga>Tga	p.G323*	MED12L_ENST00000309237.4_Nonsense_Mutation_p.G323*|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Nonsense_Mutation_p.G323*	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	323					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CATGATGATAGGACCAAACAA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	132	130			NA	NA	3		NA											NA				150877748		2203	4300	6503	SO:0001587	stop_gained			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893	116931	116931			16050	protein-coding gene	gene with protein product		611318	mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like		NA	11524702	Standard	NM_053002	XM_006713487	NA	Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.967G>T	3.37:g.150877748G>T	ENSP00000417235:p.Gly323*	NA	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	37	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	38	6.671110	0.97751	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524	.	.	.	5.41	5.41	0.78517	.	0.130879	0.49916	D	0.000126	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.7336	18.813	0.92065	0.0:0.0:1.0:0.0	.	.	.	.	X	323	.	ENSP00000310760:G323X	G	+	1	0	MED12L	152360438	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.323000	0.59221	2.533000	0.85409	0.561000	0.74099	GGA	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357707.2		+	ENST00000474524.1	Nonsense_Mutation	SNP	3 : 150877748 - 150877748 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1141	206
AOX1	316	broad.mit.edu	37	2	201469468	201469468	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201469468G>T	ENST00000374700.2	+	9	960	c.719G>T	c.(718-720)aGa>aTa	p.R240I		NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	240	FAD-binding PCMH-type.				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GGCAGTGAGAGAATGATGTGG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	137	144			NA	NA	2		NA											NA				201469468		2203	4300	6503	SO:0001583	missense			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356	316	316			553	protein-coding gene	gene with protein product		602841			NA	7570184	Standard	NM_001159	NM_001159	NA	Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.719G>T	2.37:g.201469468G>T	ENSP00000363832:p.Arg240Ile	NA	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	37	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594960	0.86953	.	.	ENSG00000138356	ENST00000374700	T	0.23950	1.88	5.27	5.27	0.74061	FAD-binding, type 2, subdomain 1 (1);FAD-binding, type 2 (2);Molybdopterin dehydrogenase, FAD-binding (1);	0.047834	0.85682	D	0.000000	T	0.59088	0.2168	M	0.90814	3.15	0.80722	D	1	D	0.54964	0.969	D	0.64321	0.924	T	0.67304	-0.5704	10	0.87932	D	0	-52.8732	19.0885	0.93215	0.0:0.0:1.0:0.0	.	240	Q06278	ADO_HUMAN	I	240	ENSP00000363832:R240I	ENSP00000363832:R240I	R	+	2	0	AOX1	201177713	1.000000	0.71417	0.109000	0.21407	0.003000	0.03518	5.971000	0.70440	2.758000	0.94735	0.561000	0.74099	AGA	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335844.1		+	ENST00000374700.2	Missense_Mutation	SNP	2 : 201469468 - 201469468 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	675	96
C12orf43	64897	broad.mit.edu	37	12	121442209	121442209	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121442209C>T	ENST00000445832.3	-	6	548	c.446G>A	c.(445-447)aGc>aAc	p.S149N	C12orf43_ENST00000366211.2_Missense_Mutation_p.S138N|C12orf43_ENST00000537817.1_Missense_Mutation_p.S180N|C12orf43_ENST00000539736.1_Missense_Mutation_p.S169N|C12orf43_ENST00000536407.2_Intron|C12orf43_ENST00000288757.3_Missense_Mutation_p.S179N			Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	179	Poly-Ser.									cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGTTCCAGGGCTGTGGATGGC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	132	127			NA	NA	12		NA											NA				121442209		2203	4300	6503	SO:0001583	missense			AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895	64897	64897			25719	protein-coding gene	gene with protein product					NA	8619474, 9110174	Standard	NM_022895	NM_001286195	NA	Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150	ENST00000445832.3:c.446G>A	12.37:g.121442209C>T	ENSP00000409788:p.Ser149Asn	NA	Q53HF0|Q9H9Z7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.11|13.11	2.138276|2.138276	0.37728|0.37728	.|.	.|.	ENSG00000157895|ENSG00000157895	ENST00000546272|ENST00000445832;ENST00000288757;ENST00000537817;ENST00000366211;ENST00000539736;ENST00000538296;ENST00000535367	.|T;T;T;T;T	.|0.48836	.|0.82;0.81;0.82;0.8;0.81	5.0|5.0	3.15|3.15	0.36227|0.36227	.|.	.|1.472730	.|0.03567	.|N	.|0.228022	T|T	0.36220|0.36220	0.0959|0.0959	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.32467	.|0.006;0.006;0.372;0.006;0.152	.|B;B;B;B;B	.|0.32677	.|0.012;0.005;0.15;0.005;0.08	T|T	0.26815|0.26815	-1.0092|-1.0092	5|10	.|0.17369	.|T	.|0.5	-0.4383|-0.4383	9.3139|9.3139	0.37921|0.37921	0.1449:0.7773:0.0:0.0778|0.1449:0.7773:0.0:0.0778	.|.	.|169;138;180;169;179	.|G5EA44;F6TFQ5;F5H7W8;B4DWJ9;Q96C57	.|.;.;.;.;CL043_HUMAN	T|N	133|149;179;180;138;169;117;134	.|ENSP00000409788:S149N;ENSP00000288757:S179N;ENSP00000442224:S180N;ENSP00000437803:S169N;ENSP00000442041:S117N	.|ENSP00000288757:S179N	A|S	-|-	1|2	0|0	C12orf43|C12orf43	119926592|119926592	0.068000|0.068000	0.21057|0.21057	0.002000|0.002000	0.10522|0.10522	0.004000|0.004000	0.04260|0.04260	0.963000|0.963000	0.29293|0.29293	0.771000|0.771000	0.33359|0.33359	-0.140000|-0.140000	0.14226|0.14226	GCC|AGC	C12orf43-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000402517.2		-	ENST00000445832.3	Missense_Mutation	SNP	12 : 121442209 - 121442209 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1024	87
PIK3C2B	5287	broad.mit.edu	37	1	204416604	204416604	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204416604G>A	ENST00000367187.3	-	16	3005	c.2449C>T	c.(2449-2451)Cgc>Tgc	p.R817C	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R817C	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	817					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TTAAGCTTGCGCTGGTCTTCT	0.552		NA											G	2	9e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0026	NA	NA	9e-04	1	EXOME	NA	NA	9e-04	SNP								NA				0								G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	78	76	77		2449	4.2	0.8	1		77	0,8600		0,0,4300	yes	missense	PIK3C2B	NM_002646.3	180	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	possibly-damaging	817/1635	204416604	1,13005	2203	4300	6503	SO:0001583	missense			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	5287	5287	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	phosphoinositide-3-kinase, class 2, beta polypeptide		NA	9144573, 9830063	Standard	NM_002646	NM_002646	NA	Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.2449C>T	1.37:g.204416604G>A	ENSP00000356155:p.Arg817Cys	NA	O95666|Q5SW99	37	CCDS1446.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	17.37	3.373570	0.61624	2.27E-4	0.0	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.64260	-0.09;-0.08	5.08	4.16	0.48862	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.380247	0.25827	N	0.028051	T	0.60130	0.2245	L	0.54323	1.7	0.35802	D	0.823181	P;P	0.52463	0.953;0.62	P;B	0.47162	0.54;0.326	T	0.70029	-0.4984	10	0.59425	D	0.04	.	8.7611	0.34676	0.0:0.159:0.5768:0.2641	.	817;817	F5GWN5;O00750	.;P3C2B_HUMAN	C	817	ENSP00000356155:R817C;ENSP00000400561:R817C	ENSP00000356155:R817C	R	-	1	0	PIK3C2B	202683227	0.992000	0.36948	0.838000	0.33150	0.807000	0.45602	1.313000	0.33585	1.263000	0.44181	0.462000	0.41574	CGC	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087965.1		-	ENST00000367187.3	Missense_Mutation	SNP	1 : 204416604 - 204416604 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	38
PCDH8	5100	broad.mit.edu	37	13	53419603	53419603	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53419603G>A	ENST00000377942.3	-	2	2999	c.2796C>T	c.(2794-2796)agC>agT	p.S932S	PCDH8_ENST00000338862.4_Silent_p.S835S	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	932					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GAGCGTCCCCGCTGATGTCGG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(36;25 841 9273 49207)							NA				0													171	136	148			NA	NA	13		NA											NA				53419603		2203	4300	6503	SO:0001819	synonymous_variant			AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099	5100	5100		Cadherins / Protocadherins : Non-clustered	8660	protein-coding gene	gene with protein product		603580			NA	9787079, 9315676	Standard	NM_002590	NM_002590	NA	Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2796C>T	13.37:g.53419603G>A		NA	B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	37	CCDS9438.1																																																																																			PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045108.2		-	ENST00000377942.3	Silent	SNP	13 : 53419603 - 53419603 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	467	25
NF1	4763	broad.mit.edu	37	17	29661957	29661957	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29661957A>G	ENST00000358273.4	+	40	6297	c.5914A>G	c.(5914-5916)Act>Gct	p.T1972A	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Missense_Mutation_p.T1951A	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1972					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACAAAGAGTTACTGCTATTCT	0.378		NA	D, Mis, N, F, S, O		neurofibroma, glioma	neurofibroma, glioma			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)											126	113	118			NA	NA	17		NA											NA				29661957		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712	4763	4763			7765	protein-coding gene	gene with protein product	neurofibromatosis, von Recklinghausen disease, Watson disease	613113			NA	1715669	Standard	NM_000267	NM_000267	NA	Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5914A>G	17.37:g.29661957A>G	ENSP00000351015:p.Thr1972Ala	NA	O00662|Q14284|Q14930|Q9UMK3	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.663107	0.29515	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.27256	1.68;1.68;1.68	5.54	5.54	0.83059	Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	T	0.10337	0.0253	N	0.01473	-0.845	0.80722	D	1	B;B	0.26147	0.143;0.0	B;B	0.20184	0.028;0.002	T	0.26677	-1.0096	10	0.17369	T	0.5	.	15.6824	0.77381	1.0:0.0:0.0:0.0	.	1951;1972	P21359-2;P21359	.;NF1_HUMAN	A	1972;1951;1617	ENSP00000351015:T1972A;ENSP00000348498:T1951A;ENSP00000389907:T1617A	ENSP00000348498:T1951A	T	+	1	0	NF1	26686083	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.760000	0.91671	2.117000	0.64856	0.455000	0.32223	ACT	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256351.2		+	ENST00000358273.4	Missense_Mutation	SNP	17 : 29661957 - 29661957 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	72
CLK4	57396	broad.mit.edu	37	5	178050414	178050414	+	Missense_Mutation	SNP	G	G	A	rs140778498	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178050414G>A	ENST00000316308.4	-	2	172	c.4C>T	c.(4-6)Cgg>Tgg	p.R2W	CLK4_ENST00000520957.1_Missense_Mutation_p.R2W	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	2						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R2W(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		TTGGAATGCCGCATCTGTTGA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	ovary(1)											116	99	105			NA	NA	5		NA											NA				178050414		2203	4300	6503	SO:0001583	missense			AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240	57396	57396		CDC-like kinases	13659	protein-coding gene	gene with protein product		607969			NA	11170754	Standard		NM_020666	NA	Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.4C>T	5.37:g.178050414G>A	ENSP00000316948:p.Arg2Trp	NA		37	CCDS4437.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411057	0.83340	.	.	ENSG00000113240	ENST00000316308;ENST00000536763;ENST00000520957	T	0.08370	3.1	5.56	4.69	0.59074	.	0.058754	0.64402	D	0.000002	T	0.29491	0.0735	M	0.80982	2.52	0.43814	D	0.996376	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.976;0.976;0.999;0.988;0.993	T	0.03344	-1.1046	10	0.72032	D	0.01	.	11.9505	0.52952	0.0:0.0:0.8266:0.1734	.	2;2;2;2;2	B7Z990;B7ZL31;E7EWJ6;Q4G0Z5;Q9HAZ1	.;.;.;.;CLK4_HUMAN	W	2	ENSP00000316948:R2W	ENSP00000316948:R2W	R	-	1	2	CLK4	177983020	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.216000	0.51176	1.346000	0.45694	0.491000	0.48974	CGG	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253479.2		-	ENST00000316308.4	Missense_Mutation	SNP	5 : 178050414 - 178050414 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	327	29
UTP14C	9724	broad.mit.edu	37	13	52603992	52603992	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52603992T>C	ENST00000521776.2	+	2	1785	c.1052T>C	c.(1051-1053)gTg>gCg	p.V351A		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	351					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		GGCACAGAAGTGGAAGAACTC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	105	108			NA	NA	13		NA											NA				52603992		2203	4300	6503	SO:0001583	missense			D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797	9724	9724			20321	protein-coding gene	gene with protein product		608969	KIAA0266	KIAA0266	NA	9039502, 16354793	Standard	NM_021645	NM_021645	NA	Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.1052T>C	13.37:g.52603992T>C	ENSP00000428619:p.Val351Ala	NA	Q5FWG3|Q92555	37	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	T	8.706	0.910884	0.17833	.	.	ENSG00000253797	ENST00000521776	T	0.16597	2.33	2.58	-3.34	0.04943	.	0.572465	0.18972	N	0.126118	T	0.04679	0.0127	N	0.03608	-0.345	0.20489	N	0.999899	B	0.16802	0.019	B	0.17433	0.018	T	0.34329	-0.9833	9	.	.	.	-8.024	3.9033	0.09171	0.4944:0.1773:0.0:0.3283	.	351	Q5TAP6	UT14C_HUMAN	A	351	ENSP00000428619:V351A	.	V	+	2	0	UTP14C	51501993	0.848000	0.29623	0.004000	0.12327	0.148000	0.21650	1.724000	0.38064	-0.691000	0.05135	-0.795000	0.03280	GTG	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045049.2		+	ENST00000521776.2	Missense_Mutation	SNP	13 : 52603992 - 52603992 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	445	94
ZCCHC14	23174	broad.mit.edu	37	16	87448966	87448966	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87448966C>A	ENST00000268616.4	-	9	1197	c.980G>T	c.(979-981)aGc>aTc	p.S327I		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	327					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TTCAGTAAGGCTCAAAAACTT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	93	93			NA	NA	16		NA											NA				87448966		2198	4300	6498	SO:0001583	missense			AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948	23174	23174		Zinc fingers, CCHC domain containing, Sterile alpha motif (SAM) domain containing	24134	protein-coding gene	gene with protein product					NA	9628581	Standard	NM_015144	XM_005255858	NA	Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.980G>T	16.37:g.87448966C>A	ENSP00000268616:p.Ser327Ile	NA	D3DUN1|O60324|Q3MJD8|Q9UFP0	37	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036877	0.75617	.	.	ENSG00000140948	ENST00000268616	T	0.50813	0.73	5.8	5.8	0.92144	Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.133890	0.64402	D	0.000002	T	0.64114	0.2569	L	0.42245	1.32	0.39463	D	0.967599	D;D	0.76494	0.998;0.999	D;D	0.74674	0.934;0.984	T	0.65425	-0.6171	10	0.72032	D	0.01	-30.6939	20.0537	0.97638	0.0:1.0:0.0:0.0	.	327;327	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	I	327	ENSP00000268616:S327I	ENSP00000268616:S327I	S	-	2	0	ZCCHC14	86006467	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	4.334000	0.59291	2.758000	0.94735	0.561000	0.74099	AGC	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269107.1		-	ENST00000268616.4	Missense_Mutation	SNP	16 : 87448966 - 87448966 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	73
CRIP2	1397	broad.mit.edu	37	14	105945984	105945984	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105945984G>T	ENST00000483017.3	+	8	1129	c.843G>T	c.(841-843)caG>caT	p.Q281H	CRIP2_ENST00000329146.4_Missense_Mutation_p.Q207H|CRIP2_ENST00000548989.1_3'UTR	NM_001270837.1	NP_001257766.1	P52943	CRIP2_HUMAN	cysteine-rich protein 2	207							zinc ion binding			lung(2)	2		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.235)		GCAAGGTCCAGCCCTAGGCTA	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	68	72			NA	NA	14		NA											NA				105945984		2194	4290	6484	SO:0001583	missense				CCDS10003.1, CCDS59246.1	14q32.3	2008-08-11			ENSG00000182809	ENSG00000182809	1397	1397			2361	protein-coding gene	gene with protein product		601183			NA	8843343, 10681529	Standard	NM_001312	NM_001312	NA	Approved	CRP2, ESP1	uc031qqr.1	P52943	OTTHUMG00000029906	ENST00000483017.3:c.843G>T	14.37:g.105945984G>T	ENSP00000426119:p.Gln281His	NA	A1A4U1	37	CCDS59246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.07|15.07	2.724626|2.724626	0.48833|0.48833	.|.	.|.	ENSG00000182809|ENSG00000182809	ENST00000550577;ENST00000538259|ENST00000483017;ENST00000329146	.|T;T	.|0.73789	.|-0.78;-0.28	4.06|4.06	4.06|4.06	0.47325|0.47325	.|.	.|.	.|.	.|.	.|.	T|T	0.73528|0.73528	0.3598|0.3598	N|N	0.19112|0.19112	0.55|0.55	0.47621|0.47621	D|D	0.999477|0.999477	.|D;D;D	.|0.65815	.|0.989;0.995;0.989	.|P;P;P	.|0.62885	.|0.854;0.908;0.795	T|T	0.76165|0.76165	-0.3059|-0.3059	5|9	.|0.62326	.|D	.|0.03	-3.9129|-3.9129	11.5747|11.5747	0.50854|0.50854	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|281;207;207	.|B7Z6C0;Q53FN1;P52943	.|.;.;CRIP2_HUMAN	S|H	103;191|281;207	.|ENSP00000426119:Q281H;ENSP00000328521:Q207H	.|ENSP00000328521:Q207H	A|Q	+|+	1|3	0|2	CRIP2|CRIP2	105017029|105017029	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.142000|0.142000	0.21351|0.21351	2.940000|2.940000	0.49003|0.49003	2.082000|2.082000	0.62665|0.62665	0.313000|0.313000	0.20887|0.20887	GCC|CAG	CRIP2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000074599.3		+	ENST00000483017.3	Missense_Mutation	SNP	14 : 105945984 - 105945984 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	87	6
PTPRO	5800	broad.mit.edu	37	12	15742452	15742452	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15742452T>G	ENST00000281171.4	+	25	3804	c.3474T>G	c.(3472-3474)gaT>gaG	p.D1158E	PTPRO_ENST00000445537.2_Missense_Mutation_p.D347E|PTPRO_ENST00000542557.1_Missense_Mutation_p.D319E|PTPRO_ENST00000442921.2_Missense_Mutation_p.D347E|PTPRO_ENST00000348962.2_Missense_Mutation_p.D1130E|PTPRO_ENST00000544244.1_Missense_Mutation_p.D319E	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1158	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				ACATTCGGGATCATGAGTTTG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													196	176	183			NA	NA	12		NA											NA				15742452		2203	4300	6503	SO:0001583	missense			U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490	5800	5800		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing	9678	protein-coding gene	gene with protein product	osteoclastic transmembrane protein-tyrosine phosphatase	600579			NA	7519601, 7665166, 21722858	Standard		NM_030667	NA	Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.3474T>G	12.37:g.15742452T>G	ENSP00000281171:p.Asp1158Glu	NA	A0AV39|Q13101	37	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	T	8.168	0.791125	0.16258	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244	D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	5.1	-4.97	0.03029	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.51477	D	0.000096	T	0.59595	0.2205	N	0.13272	0.32	0.34027	D	0.653411	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.56269	-0.8007	10	0.02654	T	1	.	12.0958	0.53755	0.0:0.5968:0.1148:0.2884	.	319;1130;1158	Q9UBT5;Q16827-2;Q16827	.;.;PTPRO_HUMAN	E	1158;1130;347;319;347;319	ENSP00000281171:D1158E;ENSP00000343434:D1130E;ENSP00000404188:D347E;ENSP00000437571:D319E;ENSP00000393449:D347E;ENSP00000439234:D319E	ENSP00000281171:D1158E	D	+	3	2	PTPRO	15633719	0.544000	0.26441	0.730000	0.30809	0.741000	0.42261	-0.283000	0.08433	-1.202000	0.02655	-0.441000	0.05720	GAT	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401079.1		+	ENST00000281171.4	Missense_Mutation	SNP	12 : 15742452 - 15742452 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	644	142
NLRC5	84166	broad.mit.edu	37	16	57091998	57091998	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57091998C>T	ENST00000262510.6	+	28	3993	c.3768C>T	c.(3766-3768)ggC>ggT	p.G1256G	NLRC5_ENST00000539144.1_Silent_p.G1227G|NLRC5_ENST00000436936.1_Silent_p.G1256G|NLRC5_ENST00000308149.7_Silent_p.G1227G|RP11-322D14.2_ENST00000562970.1_RNA	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1256					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				ACCTGCTGGGCGACAGCGGAC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	47	50			NA	NA	16		NA											NA				57091998		2198	4300	6498	SO:0001819	synonymous_variant			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853	84166	84166		Nucleotide-binding domain and leucine rich repeat containing	29933	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5, NOD-like receptor C5	613537			NA	12615073	Standard	NM_032206	NM_032206	NA	Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3768C>T	16.37:g.57091998C>T		NA	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	37	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	C	0.420	-0.908825	0.02434	.	.	ENSG00000140853	ENST00000538805;ENST00000399221	.	.	.	4.68	-1.89	0.07689	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9464	0.01366	0.1515:0.2682:0.1567:0.4237	.	.	.	.	X	1008;8	.	.	R	+	1	2	NLRC5	55649499	0.995000	0.38212	0.443000	0.26883	0.005000	0.04900	-0.097000	0.11042	-0.621000	0.05633	-1.490000	0.00973	CGA	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257346.1		+	ENST00000262510.6	Silent	SNP	16 : 57091998 - 57091998 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	97	21
CAMTA2	23125	broad.mit.edu	37	17	4876933	4876933	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4876933G>A	ENST00000572543.1	-	13	2275	c.2163C>T	c.(2161-2163)caC>caT	p.H721H	CAMTA2_ENST00000381311.5_Silent_p.H718H|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000361571.5_Silent_p.H715H|CAMTA2_ENST00000358183.4_Silent_p.H716H|CAMTA2_ENST00000414043.3_Silent_p.H739H|CAMTA2_ENST00000348066.3_Silent_p.H716H			O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	716					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CAGCAGCCAGGTGCAGAAGGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	43	42			NA	NA	17		NA											NA				4876933		2203	4300	6503	SO:0001819	synonymous_variant			AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509	23125	23125			18807	protein-coding gene	gene with protein product		611508			NA	11925432	Standard	NM_015099	NM_015099	NA	Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000572543.1:c.2163C>T	17.37:g.4876933G>A		NA	B9EGL0|D3DTL5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	37																																																																																				CAMTA2-007	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000438757.1		-	ENST00000572543.1	Silent	SNP	17 : 4876933 - 4876933 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	214	38
PIK3C2B	5287	broad.mit.edu	37	1	204426936	204426936	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204426936C>T	ENST00000367187.3	-	10	2189	c.1633G>A	c.(1633-1635)Gcc>Acc	p.A545T	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.A545T	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	545					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GTTTCCACGGCGGCCAGGGCG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	53	54			NA	NA	1		NA											NA				204426936		2203	4300	6503	SO:0001583	missense			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	5287	5287	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	phosphoinositide-3-kinase, class 2, beta polypeptide		NA	9144573, 9830063	Standard	NM_002646	NM_002646	NA	Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.1633G>A	1.37:g.204426936C>T	ENSP00000356155:p.Ala545Thr	NA	O95666|Q5SW99	37	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222775	0.58668	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.60920	0.15;0.22	5.37	5.37	0.77165	.	0.063724	0.64402	D	0.000011	T	0.51702	0.1690	L	0.57536	1.79	0.39730	D	0.97159	B;P	0.38827	0.27;0.649	B;B	0.34093	0.09;0.175	T	0.53208	-0.8471	10	0.18710	T	0.47	.	16.8798	0.86060	0.0:1.0:0.0:0.0	.	545;545	F5GWN5;O00750	.;P3C2B_HUMAN	T	545	ENSP00000356155:A545T;ENSP00000400561:A545T	ENSP00000356155:A545T	A	-	1	0	PIK3C2B	202693559	0.999000	0.42202	0.348000	0.25681	0.689000	0.40095	4.266000	0.58871	2.509000	0.84616	0.655000	0.94253	GCC	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087965.1		-	ENST00000367187.3	Missense_Mutation	SNP	1 : 204426936 - 204426936 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	44
TANC1	85461	broad.mit.edu	37	2	160074011	160074011	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160074011T>G	ENST00000263635.6	+	20	3485	c.3248T>G	c.(3247-3249)cTg>cGg	p.L1083R	TANC1_ENST00000454300.1_Missense_Mutation_p.L977R	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1083						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CCTTTAGCCCTGACTGCCGCC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	114	111			NA	NA	2		NA											NA				160074011		2033	4211	6244	SO:0001583	missense			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183	85461	85461		Ankyrin repeat domain containing, Tetratricopeptide (TTC) repeat domain containing	29364	protein-coding gene	gene with protein product	rolling pebbles homolog B (Drosophila)	611397			NA	15673434	Standard		NM_033394	NA	Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.3248T>G	2.37:g.160074011T>G	ENSP00000263635:p.Leu1083Arg	NA	C9JD88|Q49AI8	37	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.657482	0.88154	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	D;D	0.91295	-2.82;-1.58	5.91	5.91	0.95273	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.97414	0.9154	H	0.98351	4.21	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99004	1.0812	10	0.87932	D	0	.	16.3436	0.83110	0.0:0.0:0.0:1.0	.	1075;977;1083	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	R	977;1083	ENSP00000396339:L977R;ENSP00000263635:L1083R	ENSP00000263635:L1083R	L	+	2	0	TANC1	159782257	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	7.841000	0.86834	2.269000	0.75478	0.533000	0.62120	CTG	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333135.1		+	ENST00000263635.6	Missense_Mutation	SNP	2 : 160074011 - 160074011 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	850	214
HHIP	64399	broad.mit.edu	37	4	145635402	145635402	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:145635402C>T	ENST00000296575.3	+	9	2104	c.1449C>T	c.(1447-1449)ttC>ttT	p.F483F		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	483						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TTTTAGAATTCAAGCCATTCA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	115	118			NA	NA	4		NA											NA				145635402		2203	4300	6503	SO:0001819	synonymous_variant			AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161	64399	64399			14866	protein-coding gene	gene with protein product		606178	hedgehog-interacting protein		NA	11435703, 11731473	Standard		NM_022475	NA	Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.1449C>T	4.37:g.145635402C>T		NA	Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	37	CCDS3762.1																																																																																			HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364887.2		+	ENST00000296575.3	Silent	SNP	4 : 145635402 - 145635402 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	224	33
HNRNPM	4670	broad.mit.edu	37	19	8550883	8550883	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8550883G>A	ENST00000348943.3	+	15	1686	c.1454G>A	c.(1453-1455)cGc>cAc	p.R485H	HNRNPM_ENST00000325495.4_Missense_Mutation_p.R524H	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	524	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	p.R524H(1)		endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GCCATCGAGCGCATGGGCCTG	0.697		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)											48	51	50			NA	NA	19		NA											NA				8550883		2202	4298	6500	SO:0001583	missense			L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783	4670	4670		RNA binding motif (RRM) containing	5046	protein-coding gene	gene with protein product	CEA receptor	160994		NAGR1, HNRPM	NA	8441656, 7558047	Standard		NM_005968	NA	Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000348943.3:c.1454G>A	19.37:g.8550883G>A	ENSP00000325732:p.Arg485His	NA	Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	37	CCDS12204.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889696	0.72524	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159;ENST00000539473	T;T	0.48522	0.81;1.14	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.69178	0.3082	M	0.70595	2.14	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;0.991;0.999;1.0	D;P;D;D	0.85130	0.987;0.511;0.937;0.997	T	0.71912	-0.4449	10	0.72032	D	0.01	.	17.8127	0.88620	0.0:0.0:1.0:0.0	.	364;524;485;409	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	H	524;485;409;81	ENSP00000325376:R524H;ENSP00000325732:R485H	ENSP00000325376:R524H	R	+	2	0	HNRNPM	8456883	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.156000	0.77453	2.537000	0.85549	0.591000	0.81541	CGC	HNRNPM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460893.2		+	ENST00000348943.3	Missense_Mutation	SNP	19 : 8550883 - 8550883 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	626	117
RHOBTB2	23221	broad.mit.edu	37	8	22864647	22864647	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22864647C>A	ENST00000519685.1	+	7	1238	c.955C>A	c.(955-957)Ctc>Atc	p.L319I	RHOBTB2_ENST00000251822.6_Missense_Mutation_p.L297I|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.L304I|RP11-875O11.1_ENST00000523884.1_RNA|RP11-875O11.1_ENST00000502083.2_RNA	NM_001160036.1	NP_001153508.1	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	297	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TGACCTGTTCCTCATGGACCT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	83	83			NA	NA	8		NA											NA				22864647		2203	4300	6503	SO:0001583	missense			AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853	23221	23221		BTB/POZ domain containing	18756	protein-coding gene	gene with protein product		607352			NA	11222756	Standard		NM_001160036	NA	Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000519685.1:c.955C>A	8.37:g.22864647C>A	ENSP00000427926:p.Leu319Ile	NA	D3DSR8|O94825|Q8N4A8|Q9BZK6	37	CCDS55210.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.209694	0.39003	.	.	ENSG00000008853	ENST00000519685;ENST00000522948;ENST00000251822	T;T;T	0.09817	2.94;2.95;2.95	5.34	4.46	0.54185	BTB/POZ-like (2);BTB/POZ fold (2);	0.167226	0.52532	D	0.000062	T	0.12347	0.0300	L	0.48642	1.525	0.39048	D	0.960263	B;B;B	0.17852	0.024;0.024;0.024	B;B;B	0.23716	0.048;0.033;0.048	T	0.04294	-1.0962	10	0.49607	T	0.09	.	12.4783	0.55827	0.0:0.9185:0.0:0.0815	.	304;297;319	E9PEI7;Q9BYZ6;E9PBU2	.;RHBT2_HUMAN;.	I	319;304;297	ENSP00000427926:L319I;ENSP00000429141:L304I;ENSP00000251822:L297I	ENSP00000251822:L297I	L	+	1	0	RHOBTB2	22920592	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.235000	0.32671	1.224000	0.43551	0.655000	0.94253	CTC	RHOBTB2-002	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375197.2		+	ENST00000519685.1	Missense_Mutation	SNP	8 : 22864647 - 22864647 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	773	145
PHF2	5253	broad.mit.edu	37	9	96429501	96429501	+	Missense_Mutation	SNP	C	C	T	rs148853252	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96429501C>T	ENST00000359246.4	+	17	2694	c.2327C>T	c.(2326-2328)gCg>gTg	p.A776V	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	776					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GAGGTTGGCGCGCTGGAGTAC	0.677		NA											c	3	0.0014	0.01	NA	2184	NA	0.9997	,	,	NA	3e-04	NA	NA	NA	0.0015	0.9154	EXOME	NA	NA	3e-04	SNP								NA				0								C	VAL/ALA	1,4399	2.1+/-5.4	0,1,2199	35	34	34		2327	3	0.2	9	dbSNP_134	34	0,8596		0,0,4298	no	missense	PHF2	NM_005392.3	64	0,1,6497	TT,TC,CC	NA	0.0,0.0227,0.0077	possibly-damaging	776/1097	96429501	1,12995	2200	4298	6498	SO:0001583	missense			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724	5253	5253		Chromatin-modifying enzymes / K-demethylases, Zinc fingers, PHD-type	8920	protein-coding gene	gene with protein product	jumonji C domain-containing histone demethylase 1E, centromere protein 35	604351			NA	10051327, 20129925	Standard	NM_005392	NM_005392	NA	Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.2327C>T	9.37:g.96429501C>T	ENSP00000352185:p.Ala776Val	NA	Q4VXG0|Q8N3K2|Q9Y6N4	37	CCDS35069.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	c	14.70	2.613863	0.46631	2.27E-4	0.0	ENSG00000197724	ENST00000359246	T	0.18502	2.21	4.99	3.02	0.34903	.	0.114508	0.64402	D	0.000016	T	0.08403	0.0209	N	0.08118	0	0.80722	D	1	D;P	0.62365	0.991;0.955	P;B	0.47044	0.535;0.284	T	0.14090	-1.0485	10	0.49607	T	0.09	-10.5163	13.6953	0.62575	0.0:0.3692:0.6308:0.0	.	195;776	Q8N359;O75151	.;PHF2_HUMAN	V	776	ENSP00000352185:A776V	ENSP00000352185:A776V	A	+	2	0	PHF2	95469322	1.000000	0.71417	0.201000	0.23476	0.338000	0.28826	5.413000	0.66399	1.050000	0.40346	0.298000	0.19748	GCG	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053162.1		+	ENST00000359246.4	Missense_Mutation	SNP	9 : 96429501 - 96429501 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	134	19
KCNMA1	3778	broad.mit.edu	37	10	78944632	78944632	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:78944632T>C	ENST00000286627.5	-	4	1597	c.645A>G	c.(643-645)ttA>ttG	p.L215L	KCNMA1_ENST00000372443.1_Silent_p.L215L|KCNMA1_ENST00000406533.3_Silent_p.L215L|KCNMA1_ENST00000404857.1_Silent_p.L215L|KCNMA1_ENST00000354353.5_Silent_p.L215L|KCNMA1_ENST00000286628.8_Silent_p.L215L|KCNMA1_ENST00000372440.1_Silent_p.L215L|KCNMA1_ENST00000404771.3_Silent_p.L215L	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	215					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TGTCGATCTGTAATGTGAAAT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	161	167			NA	NA	10		NA											NA				78944632		2203	4300	6503	SO:0001819	synonymous_variant			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113	3778	3778		Potassium channels, Voltage-gated ion channels / Potassium channels, calcium-activated	6284	protein-coding gene	gene with protein product	BK channel alpha subunit	600150		SLO	NA	7987297, 16382103	Standard	NM_002247	NM_002247	NA	Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286627.5:c.645A>G	10.37:g.78944632T>C		NA	Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	37	CCDS7352.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.680|7.680	0.688727|0.688727	0.14973|0.14973	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372421|ENST00000372403	.|.	.|.	.|.	5.31|5.31	2.98|2.98	0.34508|0.34508	.|.	.|.	.|.	.|.	.|.	T|T	0.53690|0.53690	0.1812|0.1812	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.44651|0.44651	-0.9314|-0.9314	4|4	.|.	.|.	.|.	-8.5752|-8.5752	5.3325|5.3325	0.15940|0.15940	0.1298:0.1414:0.0:0.7288|0.1298:0.1414:0.0:0.7288	.|.	.|.	.|.	.|.	A|C	204|166	.|.	.|.	T|Y	-|-	1|2	0|0	KCNMA1|KCNMA1	78614638|78614638	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.531000|2.531000	0.45650|0.45650	0.531000|0.531000	0.28639|0.28639	-0.256000|-0.256000	0.11100|0.11100	ACA|TAC	KCNMA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048877.3		-	ENST00000286627.5	Silent	SNP	10 : 78944632 - 78944632 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	636	129
CNGA3	1261	broad.mit.edu	37	2	99008415	99008415	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99008415C>A	ENST00000409937.1	+	7	808	c.667C>A	c.(667-669)Ctt>Att	p.L223I	CNGA3_ENST00000393504.1_Missense_Mutation_p.L219I|CNGA3_ENST00000272602.2_Missense_Mutation_p.L219I|CNGA3_ENST00000436404.2_Missense_Mutation_p.L201I			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	219			R -> W (in ACHM2).		signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CTTGGATGTGCTTGTACGAGC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	129	145			NA	NA	2		NA											NA				99008415		2203	4300	6503	SO:0001583	missense			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191	1261	1261		Voltage-gated ion channels / Cyclic nucleotide-regulated channels	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2	NA	7532814, 9517456, 16382102	Standard	NM_001298	NM_001298	NA	Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000409937.1:c.667C>A	2.37:g.99008415C>A	ENSP00000386761:p.Leu223Ile	NA	Q53RD2|Q9UP64	37		.	.	.	.	.	.	.	.	.	.	C	1.982	-0.433896	0.04669	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0	5.28	3.46	0.39613	Ion transport (1);	0.120714	0.56097	D	0.000022	D	0.93481	0.7920	N	0.13327	0.33	0.25395	N	0.988493	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.17098	0.013;0.013;0.017	D	0.85723	0.1326	10	0.22706	T	0.39	.	9.4971	0.38995	0.0:0.772:0.0:0.228	.	223;201;219	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	I	219;201;219;223	ENSP00000377140:L219I;ENSP00000410070:L201I;ENSP00000272602:L219I;ENSP00000386761:L223I	ENSP00000272602:L219I	L	+	1	0	CNGA3	98374847	0.015000	0.18098	0.997000	0.53966	0.084000	0.17831	0.298000	0.19120	1.473000	0.48159	-0.137000	0.14449	CTT	CNGA3-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000329558.1		+	ENST00000409937.1	Missense_Mutation	SNP	2 : 99008415 - 99008415 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	385	70
MBNL1	4154	broad.mit.edu	37	3	152150554	152150554	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:152150554G>A	ENST00000355460.2	+	4	1808	c.394G>A	c.(394-396)Gcc>Acc	p.A132T	MBNL1_ENST00000324210.5_Missense_Mutation_p.A132T|MBNL1_ENST00000498502.1_Missense_Mutation_p.A132T|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000324196.5_Missense_Mutation_p.A132T|MBNL1_ENST00000485509.1_Missense_Mutation_p.A132T|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000282486.6_Missense_Mutation_p.A132T|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000463374.1_Missense_Mutation_p.A132T|MBNL1_ENST00000493459.1_Missense_Mutation_p.A75T|MBNL1_ENST00000357472.3_Missense_Mutation_p.A132T|MBNL1_ENST00000492948.1_Missense_Mutation_p.A132T	NM_207292.1	NP_997175.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	132					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ATCAGCAGCCGCCTTTAATCC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	156	152			NA	NA	3		NA											NA				152150554		2203	4300	6503	SO:0001583	missense			Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601	4154	4154		Zinc fingers, CCCH-type domain containing	6923	protein-coding gene	gene with protein product		606516	muscleblind (Drosophila)-like, muscleblind-like (Drosophila)	MBNL	NA		Standard	NM_021038	NM_021038	NA	Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000355460.2:c.394G>A	3.37:g.152150554G>A	ENSP00000347637:p.Ala132Thr	NA	O43311|O43797	37	CCDS3164.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963689	0.92791	.	.	ENSG00000152601	ENST00000282486;ENST00000355460;ENST00000495875;ENST00000493459;ENST00000324210;ENST00000460591;ENST00000498502;ENST00000324196;ENST00000357472;ENST00000463374;ENST00000492948;ENST00000485509;ENST00000478535	T;T;T;T;T;T;T;T;T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.56455	0.1986	N	0.08118	0	0.46774	D	0.999191	D;P;P;D;B;D;D	0.76494	0.999;0.472;0.556;0.995;0.41;0.994;0.99	P;B;B;P;B;P;P	0.62740	0.906;0.072;0.203;0.838;0.217;0.701;0.819	T	0.63060	-0.6721	10	0.38643	T	0.18	.	18.3327	0.90276	0.0:0.0:1.0:0.0	.	132;132;132;132;75;132;132	C9JP00;E9PBW7;Q9NR56;Q86UV8;Q86VM6;Q9NR56-2;Q96P92	.;.;MBNL1_HUMAN;.;.;.;.	T	132;132;40;75;132;40;132;132;132;132;132;132;35	ENSP00000282486:A132T;ENSP00000347637:A132T;ENSP00000417741:A40T;ENSP00000419347:A75T;ENSP00000319429:A132T;ENSP00000420680:A40T;ENSP00000420327:A132T;ENSP00000319374:A132T;ENSP00000350064:A132T;ENSP00000418108:A132T;ENSP00000420103:A132T;ENSP00000418876:A132T;ENSP00000418508:A35T	ENSP00000282486:A132T	A	+	1	0	MBNL1	153633244	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.876000	0.75556	2.396000	0.81511	0.563000	0.77884	GCC	MBNL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353599.1		+	ENST00000355460.2	Missense_Mutation	SNP	3 : 152150554 - 152150554 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1336	305
DSC2	1824	broad.mit.edu	37	18	28672188	28672188	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28672188C>T	ENST00000280904.6	-	3	673	c.230G>A	c.(229-231)gGt>gAt	p.G77D	DSC2_ENST00000251081.6_Missense_Mutation_p.G77D	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	77					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ATAGACTGAACCATCCTCCAA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	73	73			NA	NA	18		NA											NA				28672188		2202	4299	6501	SO:0001583	missense			X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755	1824	1824		Cadherins / Major cadherins	3036	protein-coding gene	gene with protein product		125645		DSC3	NA	7774948	Standard	NM_004949	NM_024422	NA	Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.230G>A	18.37:g.28672188C>T	ENSP00000280904:p.Gly77Asp	NA		37	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183727	0.78677	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000399347	D;D	0.91464	-2.85;-2.85	5.1	5.1	0.69264	Cadherin prodomain-like (1);Cadherin-like (1);	0.000000	0.32935	N	0.005474	D	0.95449	0.8522	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95885	0.8902	10	0.87932	D	0	.	17.6462	0.88149	0.0:1.0:0.0:0.0	.	77;77	Q02487;Q02487-2	DSC2_HUMAN;.	D	77	ENSP00000251081:G77D;ENSP00000280904:G77D	ENSP00000251081:G77D	G	-	2	0	DSC2	26926186	0.999000	0.42202	0.998000	0.56505	0.895000	0.52256	4.935000	0.63498	2.550000	0.86006	0.455000	0.32223	GGT	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254943.1		-	ENST00000280904.6	Missense_Mutation	SNP	18 : 28672188 - 28672188 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	56
TOP2B	7155	broad.mit.edu	37	3	25668286	25668286	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:25668286G>A	ENST00000435706.2	-	17	2272	c.2071C>T	c.(2071-2073)Cgt>Tgt	p.R691C	TOP2B_ENST00000264331.4_Missense_Mutation_p.R696C			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	696					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						TGTAGCCTACGCTGTCTCCGG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	69	69			NA	NA	3		NA											NA				25668286		2203	4300	6503	SO:0001583	missense			X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	7155	7155	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	topoisomerase (DNA) II beta (180kD)		NA	1309226, 1333583	Standard		NM_001068	NA	Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000435706.2:c.2071C>T	3.37:g.25668286G>A	ENSP00000396704:p.Arg691Cys	NA	Q13600|Q9UMG8|Q9UQP8	37	CCDS46776.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574399	0.65878	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.48522	0.81;0.81	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.61553	0.2356	M	0.78049	2.395	0.80722	D	1	D	0.53745	0.962	P	0.49192	0.602	T	0.67397	-0.5681	10	0.66056	D	0.02	0.0	19.5213	0.95185	0.0:0.0:1.0:0.0	.	691	Q02880-2	.	C	691;696;691	ENSP00000396704:R691C;ENSP00000264331:R696C	ENSP00000264331:R696C	R	-	1	0	TOP2B	25643290	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.316000	0.59178	2.681000	0.91329	0.557000	0.71058	CGT	TOP2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340821.1		-	ENST00000435706.2	Missense_Mutation	SNP	3 : 25668286 - 25668286 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	74	10
PCDH10	57575	broad.mit.edu	37	4	134073477	134073477	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134073477A>G	ENST00000264360.5	+	1	3008	c.2182A>G	c.(2182-2184)Atc>Gtc	p.I728V		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	NA					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGTGTCCTTCATCTTCCTGCT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	104	100			NA	NA	4		NA											NA				134073477		2203	4300	6503	SO:0001583	missense			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650	57575	57575		Cadherins / Protocadherins : Non-clustered	13404	protein-coding gene	gene with protein product		608286			NA	10835267	Standard	NM_032961	NM_020815	NA	Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2182A>G	4.37:g.134073477A>G	ENSP00000264360:p.Ile728Val	NA	Q4W5F6	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	A	10.86	1.470172	0.26423	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.53423	0.62	4.48	3.29	0.37713	.	0.170949	0.28706	N	0.014403	T	0.28466	0.0704	N	0.13299	0.325	0.51012	D	0.999904	B;B	0.12013	0.005;0.004	B;B	0.19946	0.012;0.027	T	0.04551	-1.0943	10	0.24483	T	0.36	.	9.7391	0.40406	0.9168:0.0:0.0832:0.0	.	728;728	Q9P2E7;Q96SF0	PCD10_HUMAN;.	V	728	ENSP00000264360:I728V	ENSP00000264360:I728V	I	+	1	0	PCDH10	134292927	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.607000	0.54102	0.750000	0.32877	0.459000	0.35465	ATC	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364457.2		+	ENST00000264360.5	Missense_Mutation	SNP	4 : 134073477 - 134073477 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	518	107
PRUNE2	158471	broad.mit.edu	37	9	79321848	79321848	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79321848G>A	ENST00000376718.3	-	8	5465	c.5342C>T	c.(5341-5343)gCa>gTa	p.A1781V	PRUNE2_ENST00000428286.1_Missense_Mutation_p.A1422V	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1781					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTTCTCCACTGCTGTAATCTG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	94	102			NA	NA	9		NA											NA				79321848		1568	3582	5150	SO:0001583	missense			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772	158471	158471			25209	protein-coding gene	gene with protein product	olfaxin	610691	chromosome 9 open reading frame 65, KIAA0367	C9orf65, KIAA0367	NA	16288218	Standard	NM_138818	NM_015225	NA	Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.5342C>T	9.37:g.79321848G>A	ENSP00000365908:p.Ala1781Val	NA	B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	37	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	0.963	-0.702586	0.03255	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.43688	0.94;0.94	5.36	1.23	0.21249	.	1.275240	0.05360	N	0.533570	T	0.20780	0.0500	N	0.12182	0.205	0.09310	N	1	B	0.17852	0.024	B	0.13407	0.009	T	0.22208	-1.0223	10	0.06757	T	0.87	-2.6408	4.4469	0.11602	0.2117:0.0:0.4988:0.2895	.	1781	Q8WUY3	PRUN2_HUMAN	V	1781;1422;1780	ENSP00000365908:A1781V;ENSP00000397425:A1422V	ENSP00000365908:A1781V	A	-	2	0	PRUNE2	78511668	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.252000	0.08806	0.736000	0.32559	0.655000	0.94253	GCA	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052730.2		-	ENST00000376718.3	Missense_Mutation	SNP	9 : 79321848 - 79321848 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	154	28
MTUS1	57509	broad.mit.edu	37	8	17611250	17611250	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17611250A>G	ENST00000262102.6	-	2	2291	c.2067T>C	c.(2065-2067)acT>acC	p.T689T	MTUS1_ENST00000381869.3_Silent_p.T689T|MTUS1_ENST00000381862.3_Silent_p.T689T|MTUS1_ENST00000519263.1_Silent_p.T689T	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	689						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CATATTCAAAAGTCTCATTCA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	93	99			NA	NA	8		NA											NA				17611250		1814	4072	5886	SO:0001819	synonymous_variant			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422	57509	57509			29789	protein-coding gene	gene with protein product	AT2 receptor-interacting protein, AT2R binding protein, mitochondrial tumor suppressor gene 1	609589	mitochondrial tumor suppressor 1		NA	10574462, 12692079	Standard	XM_372031	NM_001001931	NA	Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2067T>C	8.37:g.17611250A>G		NA	A8K135|B2RBJ6|B3KWJ9|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	37	CCDS43717.1																																																																																			MTUS1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375247.1		-	ENST00000262102.6	Silent	SNP	8 : 17611250 - 17611250 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	236	38
ZNF335	63925	broad.mit.edu	37	20	44588995	44588995	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44588995C>A	ENST00000322927.2	-	14	1972	c.1872G>T	c.(1870-1872)gaG>gaT	p.E624D	ZNF335_ENST00000426788.1_Missense_Mutation_p.E469D	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	624					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				ACTCACAGAACTCACACTTGA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	100	95			NA	NA	20		NA											NA				44588995		2203	4300	6503	SO:0001583	missense			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026	63925	63925		Zinc fingers, C2H2-type	15807	protein-coding gene	gene with protein product	NRC-interacting factor 1	610827			NA	12215545, 19131338	Standard	NM_022095	NM_022095	NA	Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.1872G>T	20.37:g.44588995C>A	ENSP00000325326:p.Glu624Asp	NA	B4DLG7|Q548D0|Q9H684	37	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.254580	0.39896	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.27720	1.65;1.65	5.37	3.41	0.39046	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.36524	0.0970	N	0.24115	0.695	0.51482	D	0.999921	D;D	0.71674	0.998;0.997	D;D	0.77557	0.99;0.978	T	0.06023	-1.0850	10	0.24483	T	0.36	-27.9562	11.7575	0.51884	0.0:0.8556:0.0:0.1444	.	469;624	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	D	624;401;469	ENSP00000325326:E624D;ENSP00000397098:E469D	ENSP00000243961:E401D	E	-	3	2	ZNF335	44022402	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	0.980000	0.29513	1.511000	0.48818	0.650000	0.86243	GAG	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079553.1		-	ENST00000322927.2	Missense_Mutation	SNP	20 : 44588995 - 44588995 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	35
ESR2	2100	broad.mit.edu	37	14	64727439	64727439	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64727439C>T	ENST00000553796.1	-	4	679	c.680G>A	c.(679-681)cGc>cAc	p.R227H	ESR2_ENST00000357782.2_Missense_Mutation_p.R227H|ESR2_ENST00000341099.4_Missense_Mutation_p.R227H|ESR2_ENST00000555278.1_Missense_Mutation_p.R227H|ESR2_ENST00000557772.1_Missense_Mutation_p.R227H|ESR2_ENST00000267525.6_Missense_Mutation_p.R227H|ESR2_ENST00000554572.1_Missense_Mutation_p.R227H|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000358599.5_Missense_Mutation_p.R227H|ESR2_ENST00000542956.1_Missense_Mutation_p.R227H|ESR2_ENST00000353772.3_Missense_Mutation_p.R227H	NM_001271876.1	NP_001258805.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	227	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	p.R227L(2)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CCGCACAAGGCGGTACCCACA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(2)											29	30	30			NA	NA	14		NA											NA				64727439		2201	4294	6495	SO:0001583	missense			X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009	NA	2100		Nuclear hormone receptors	3468	protein-coding gene	gene with protein product		601663			NA	8769313	Standard		NM_001214902	NA	Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000553796.1:c.680G>A	14.37:g.64727439C>T	ENSP00000452426:p.Arg227His	NA	A8K8K5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	37		.	.	.	.	.	.	.	.	.	.	C	17.26	3.344503	0.61073	.	.	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099;ENST00000267525	D;D;D;D;D;D;D;D;D;D;D	0.92048	-2.94;-2.89;-2.88;-2.88;-2.88;-2.96;-2.94;-2.96;-2.94;-2.79;-2.53	5.53	3.72	0.42706	Zinc finger, NHR/GATA-type (1);Nuclear hormone receptor, ligand-binding (1);	0.414867	0.28748	N	0.014261	D	0.96513	0.8862	M	0.92923	3.36	0.58432	D	0.999997	P;D;D;D;B	0.89917	0.835;1.0;0.998;1.0;0.066	B;D;D;D;B	0.77557	0.401;0.985;0.921;0.99;0.017	D	0.96129	0.9091	10	0.54805	T	0.06	.	12.2801	0.54759	0.0:0.8637:0.0:0.1363	.	227;227;227;227;227	Q92731-7;Q92731;Q92731-6;Q92731-5;F1D8N3	.;ESR2_HUMAN;.;.;.	H	227	ENSP00000452485:R227H;ENSP00000441792:R227H;ENSP00000450699:R227H;ENSP00000335551:R227H;ENSP00000351412:R227H;ENSP00000450488:R227H;ENSP00000452426:R227H;ENSP00000350427:R227H;ENSP00000451582:R227H;ENSP00000343925:R227H;ENSP00000267525:R227H	ENSP00000267525:R227H	R	-	2	0	ESR2	63797192	0.982000	0.34865	0.709000	0.30452	0.245000	0.25701	2.455000	0.44988	0.818000	0.34468	0.563000	0.77884	CGC	ESR2-011	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000412159.1		-	ENST00000553796.1	Missense_Mutation	SNP	14 : 64727439 - 64727439 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	330	71
SKI	6497	broad.mit.edu	37	1	2160862	2160862	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2160862C>T	ENST00000378536.4	+	1	729	c.657C>T	c.(655-657)cgC>cgT	p.R219R		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	219					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		GCAGCGTCCGCGTGTACCACG	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(177;144 1678 13697 20086 27838 40755)							NA				0													12	14	13			NA	NA	1		NA											NA				2160862		2175	4273	6448	SO:0001819	synonymous_variant			X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933	6497	6497		SKI transcriptional corepressors	10896	protein-coding gene	gene with protein product		164780	v-ski avian sarcoma viral oncogene homolog		NA	2762147	Standard	NM_003036	NM_003036	NA	Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.657C>T	1.37:g.2160862C>T		NA	Q5SYT7	37	CCDS39.1																																																																																			SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000004070.1		+	ENST00000378536.4	Silent	SNP	1 : 2160862 - 2160862 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	112	5
DOCK8	81704	broad.mit.edu	37	9	376229	376229	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:376229C>A	ENST00000469391.1	+	18	2004	c.1925C>A	c.(1924-1926)cCt>cAt	p.P642H	DOCK8_ENST00000432829.2_Missense_Mutation_p.P642H|DOCK8_ENST00000453981.1_Missense_Mutation_p.P710H|DOCK8_ENST00000382331.1_Missense_Mutation_p.P12H|DOCK8_ENST00000382329.1_Missense_Mutation_p.P177H	NM_001190458.1|NM_001193536.1	NP_001177387.1|NP_001180465.1	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	710					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TTACAGAATCCTCCCATTAAG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	124	124			NA	NA	9		NA											NA				376229		2203	4300	6503	SO:0001583	missense			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099	81704	81704			19191	protein-coding gene	gene with protein product		611432			NA	11214971	Standard	XM_036307	NM_203447	NA	Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000469391.1:c.1925C>A	9.37:g.376229C>A	ENSP00000419438:p.Pro642His	NA	A2A350|A2BDF2|A4FU78|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	37	CCDS55284.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329458	0.81690	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382331;ENST00000382329	T;T;T;T;T	0.44881	2.23;2.23;2.25;0.91;2.04	5.66	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.68742	0.3034	M	0.86573	2.825	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.99;1.0	D;D;D;D	0.91635	0.961;0.999;0.972;0.998	T	0.75657	-0.3242	10	0.87932	D	0	.	14.5025	0.67732	0.0:0.9297:0.0:0.0703	.	12;642;177;710	A2A370;E9PH09;A2A369;Q8NF50	.;.;.;DOCK8_HUMAN	H	710;710;642;642;12;177	ENSP00000408464:P710H;ENSP00000394888:P642H;ENSP00000419438:P642H;ENSP00000371768:P12H;ENSP00000371766:P177H	ENSP00000287364:P710H	P	+	2	0	DOCK8	366229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.621000	0.67743	1.388000	0.46506	0.650000	0.86243	CCT	DOCK8-012	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354646.1		+	ENST00000469391.1	Missense_Mutation	SNP	9 : 376229 - 376229 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	634	112
MRGPRX3	117195	broad.mit.edu	37	11	18159146	18159146	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18159146C>T	ENST00000396275.2	+	3	758	c.397C>T	c.(397-399)Cgc>Tgc	p.R133C		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	133						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GTACCACTGCCGCCGCCCCAG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	110	112			NA	NA	11		NA											NA				18159146		2200	4293	6493	SO:0001583	missense				CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826	117195	117195		GPCR / Class A : Orphans	17980	protein-coding gene	gene with protein product		607229			NA	11551509	Standard	NM_054031	NM_054031	NA	Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.397C>T	11.37:g.18159146C>T	ENSP00000379571:p.Arg133Cys	NA	B0M0L1|Q8TDE0|Q8TDE1	37	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	C	8.704	0.910516	0.17833	.	.	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.73469	-0.75;-0.75	1.46	-0.827	0.10802	GPCR, rhodopsin-like superfamily (1);	0.878186	0.09819	N	0.751759	T	0.67401	0.2889	L	0.58925	1.835	0.24824	N	0.992564	B	0.22800	0.075	B	0.27715	0.082	T	0.60311	-0.7288	10	0.87932	D	0	.	5.0768	0.14636	0.0:0.4322:0.0:0.5678	.	133	Q96LB0	MRGX3_HUMAN	C	133	ENSP00000379571:R133C;ENSP00000436242:R133C	ENSP00000379571:R133C	R	+	1	0	MRGPRX3	18115722	0.001000	0.12720	0.035000	0.18076	0.017000	0.09413	1.191000	0.32138	-0.245000	0.09625	-0.450000	0.05554	CGC	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389767.1		+	ENST00000396275.2	Missense_Mutation	SNP	11 : 18159146 - 18159146 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	940	169
OPALIN	93377	broad.mit.edu	37	10	98105750	98105750	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98105750A>G	ENST00000371172.3	-	6	779	c.374T>C	c.(373-375)aTg>aCg	p.M125T	OPALIN_ENST00000393870.2_Missense_Mutation_p.M114T|OPALIN_ENST00000419479.1_Missense_Mutation_p.M115T|OPALIN_ENST00000536387.1_Missense_Mutation_p.M115T|OPALIN_ENST00000393871.1_Missense_Mutation_p.M102T	NM_001284326.1|NM_001284327.1|NM_033207.3	NP_001271255.1|NP_001271256.1|NP_149984.1	Q96PE5	OPALI_HUMAN	oligodendrocytic myelin paranodal and inner loop protein	125						Golgi apparatus|integral to membrane|plasma membrane		p.M115T(1)|p.M125T(1)		breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						CCTTCTTTCCATTTCTATAGT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(2)											168	146	153			NA	NA	10		NA											NA				98105750		2203	4300	6503	SO:0001583	missense			AF367761	CCDS7448.1, CCDS41556.1, CCDS44466.1, CCDS60602.1, CCDS73172.1, CCDS73173.1	10q23-q24	2010-11-23	2008-05-01	2008-05-01	ENSG00000197430	ENSG00000197430	93377	93377			20707	protein-coding gene	gene with protein product			transmembrane protein 10	TMEM10	NA	11814680, 17442045	Standard	NM_033207	NM_001284324	NA	Approved	TMP10, HTMP10	uc001kmj.3	Q96PE5	OTTHUMG00000018831	ENST00000371172.3:c.374T>C	10.37:g.98105750A>G	ENSP00000360214:p.Met125Thr	NA		37	CCDS7448.1	.	.	.	.	.	.	.	.	.	.	A	10.17	1.276167	0.23307	.	.	ENSG00000197430	ENST00000371172;ENST00000393871;ENST00000419479;ENST00000393870;ENST00000536387	.	.	.	4.12	0.291	0.15732	.	0.846034	0.10440	N	0.674364	T	0.27169	0.0666	L	0.32530	0.975	0.09310	N	1	B;B;B	0.27732	0.187;0.11;0.001	B;B;B	0.22601	0.04;0.04;0.001	T	0.24512	-1.0158	9	0.72032	D	0.01	-1.154	3.7161	0.08438	0.6011:0.1903:0.2086:0.0	.	102;125;115	A8MYG4;Q96PE5;B4DK96	.;OPALI_HUMAN;.	T	125;102;115;114;115	.	ENSP00000360214:M125T	M	-	2	0	OPALIN	98095740	0.009000	0.17119	0.089000	0.20774	0.896000	0.52359	-0.209000	0.09358	-0.045000	0.13468	0.528000	0.53228	ATG	OPALIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049606.1		-	ENST00000371172.3	Missense_Mutation	SNP	10 : 98105750 - 98105750 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	732	148
ZCCHC3	85364	broad.mit.edu	37	20	279106	279106	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:279106C>A	ENST00000382352.3	+	1	1370	c.879C>A	c.(877-879)atC>atA	p.I293I		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	293							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GGTTTGGGATCTGGACCGGGG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	68	66			NA	NA	20		NA											NA				279106		2062	4199	6261	SO:0001819	synonymous_variant			AL034548	CCDS42844.1	20p13-p12.2	2014-04-10	2004-07-14	2004-07-14	ENSG00000177764	ENSG00000247315	85364	85364		Zinc fingers, CCHC domain containing	16230	protein-coding gene	gene with protein product			chromosome 20 open reading frame 99	C20orf99	NA		Standard		NM_033089	NA	Approved	dJ1103G7.7	uc002wdf.3	Q9NUD5	OTTHUMG00000188280	ENST00000382352.3:c.879C>A	20.37:g.279106C>A		NA	Q6NT79	37	CCDS42844.1																																																																																			ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077447.1		+	ENST00000382352.3	Silent	SNP	20 : 279106 - 279106 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	535	110
NLRC4	58484	broad.mit.edu	37	2	32475213	32475213	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32475213C>A	ENST00000404025.2	-	5	2208	c.1720G>T	c.(1720-1722)Gaa>Taa	p.E574*	NLRC4_ENST00000360906.5_Nonsense_Mutation_p.E574*|NLRC4_ENST00000402280.1_Nonsense_Mutation_p.E574*|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	574					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GCTTCAAATTCTTGGCTCAGG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	98	99			NA	NA	2		NA											NA				32475213		2203	4300	6503	SO:0001587	stop_gained			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106	58484	58484		Nucleotide-binding domain and leucine rich repeat containing	16412	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4, NOD-like receptor C4	606831	caspase recruitment domain family, member 12	CARD12	NA	11374873	Standard	NM_021209	NM_021209	NA	Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.1720G>T	2.37:g.32475213C>A	ENSP00000385090:p.Glu574*	NA	B2RBQ3|D6W580|Q96J81|Q96J82|Q96J83	37	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081780	0.76528	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	.	.	.	3.0	2.11	0.27256	.	0.396359	0.19831	N	0.105084	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	9.6055	0.39630	0.0:0.8875:0.0:0.1125	.	.	.	.	X	574	.	ENSP00000354159:E574X	E	-	1	0	NLRC4	32328717	1.000000	0.71417	0.575000	0.28536	0.001000	0.01503	4.069000	0.57541	0.853000	0.35312	-0.300000	0.09419	GAA	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325222.2		-	ENST00000404025.2	Nonsense_Mutation	SNP	2 : 32475213 - 32475213 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	514	75
IRF2BP2	359948	broad.mit.edu	37	1	234743036	234743036	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234743036G>A	ENST00000366609.3	-	2	1641	c.1611C>T	c.(1609-1611)agC>agT	p.S537S	IRF2BP2_ENST00000366610.3_Silent_p.S521S|IRF2BP2_ENST00000491430.1_5'UTR|RP4-781K5.2_ENST00000436039.1_RNA	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	537	Cys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			GCTGTTTGATGCTTTGTCTGG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	88	85			NA	NA	1		NA											NA				234743036		2203	4300	6503	SO:0001819	synonymous_variant			AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264	359948	359948			21729	protein-coding gene	gene with protein product		615332			NA	12799427	Standard	NM_182972	NM_182972	NA	Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.1611C>T	1.37:g.234743036G>A		NA	B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	37	CCDS1602.1																																																																																			IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092705.1		-	ENST00000366609.3	Silent	SNP	1 : 234743036 - 234743036 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	733	171
VPRBP	9730	broad.mit.edu	37	3	51457767	51457767	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51457767G>A	ENST00000335891.5	-	7	1319	c.1310C>T	c.(1309-1311)gCc>gTc	p.A437V				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	886					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TGGGGTAAAGGCAGAAGAATG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	136	132			NA	NA	3		NA											NA				51457767		2169	4263	6432	SO:0001583	missense			AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041	9730	9730		DDB1 and CUL4 associated factors	30911	protein-coding gene	gene with protein product	DDB1 and CUL4 associated factor 1				NA	8195203, 11223251	Standard	NM_014703	NM_014703	NA	Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.1310C>T	3.37:g.51457767G>A	ENSP00000338857:p.Ala437Val	NA	Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	37		.	.	.	.	.	.	.	.	.	.	G	12.24	1.877421	0.33162	.	.	ENSG00000145041	ENST00000423656;ENST00000335891	T;T	0.35048	1.33;1.33	6.07	6.07	0.98685	.	0.263121	0.44688	D	0.000424	T	0.31071	0.0785	L	0.34521	1.04	0.44603	D	0.997579	B	0.29646	0.253	B	0.28305	0.088	T	0.06935	-1.0799	10	0.13470	T	0.59	-12.0272	20.6439	0.99570	0.0:0.0:1.0:0.0	.	886	Q9Y4B6	VPRBP_HUMAN	V	457;437	ENSP00000393183:A457V;ENSP00000338857:A437V	ENSP00000338857:A437V	A	-	2	0	VPRBP	51432807	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.219000	0.78000	2.884000	0.98904	0.655000	0.94253	GCC	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding			-	ENST00000335891.5	Missense_Mutation	SNP	3 : 51457767 - 51457767 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	440	71
GINS3	64785	broad.mit.edu	37	16	58438412	58438412	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58438412G>A	ENST00000318129.5	+	3	638	c.430G>A	c.(430-432)Gga>Aga	p.G144R	GINS3_ENST00000328514.7_Missense_Mutation_p.G66R|GINS3_ENST00000426538.2_Missense_Mutation_p.G183R	NM_022770.3	NP_073607.2	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 (Psf3 homolog)	144					DNA replication	nucleus				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						GACTTTTATCGGACGTTTTCG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ARG/GLY,ARG/GLY,ARG/GLY	0,4396		0,0,2198	114	90	98		547,196,430	5.9	1	16		98	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	GINS3	NM_001126129.1,NM_001126130.1,NM_022770.3	125,125,125	0,1,6497	AA,AG,GG	NA	0.0116,0.0,0.0077	benign,benign,benign	183/256,66/139,144/217	58438412	1,12995	2198	4300	6498	SO:0001583	missense			BC005879	CCDS10796.1, CCDS45498.1, CCDS45499.1	16q21	2008-02-05			ENSG00000181938	ENSG00000181938	64785	64785			25851	protein-coding gene	gene with protein product		610610			NA	12477932	Standard	NM_022770	NM_022770	NA	Approved	FLJ13912, PSF3	uc010cdj.3	Q9BRX5	OTTHUMG00000133486	ENST00000318129.5:c.430G>A	16.37:g.58438412G>A	ENSP00000318196:p.Gly144Arg	NA	B2RDP3|Q9H870	37	CCDS10796.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370616	0.82573	0.0	1.16E-4	ENSG00000181938	ENST00000426538;ENST00000328514;ENST00000318129	T;T;T	0.17528	2.27;2.27;2.27	5.95	5.95	0.96441	.	0.100927	0.64402	D	0.000002	T	0.32133	0.0819	L	0.51914	1.62	0.58432	D	0.999997	D;D;P	0.76494	0.999;0.999;0.881	D;P;B	0.67900	0.954;0.875;0.141	T	0.01175	-1.1428	10	0.15952	T	0.53	-0.9754	14.5934	0.68386	0.0714:0.0:0.9286:0.0	.	183;66;144	E9PB21;Q9BRX5-2;Q9BRX5	.;.;PSF3_HUMAN	R	183;66;144	ENSP00000401018:G183R;ENSP00000327449:G66R;ENSP00000318196:G144R	ENSP00000318196:G144R	G	+	1	0	GINS3	56995913	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	4.387000	0.59626	2.824000	0.97209	0.655000	0.94253	GGA	GINS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257384.2		+	ENST00000318129.5	Missense_Mutation	SNP	16 : 58438412 - 58438412 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	302	55
EFR3A	23167	broad.mit.edu	37	8	132982776	132982776	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:132982776G>A	ENST00000254624.5	+	10	1270	c.1045G>A	c.(1045-1047)Gtt>Att	p.V349I	EFR3A_ENST00000519656.1_Missense_Mutation_p.V313I|EFR3A_ENST00000334503.4_Missense_Mutation_p.V349I	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	349						plasma membrane	binding	p.S348fs*15(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			GCGTCTCAGCGTTGAATTCGA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Deletion - Frameshift(1)	breast(1)											100	93	95			NA	NA	8		NA											NA				132982776		2203	4300	6503	SO:0001583	missense			D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294	23167	23167			28970	protein-coding gene	gene with protein product		611798			NA	15363888	Standard	NM_015137	NM_015137	NA	Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.1045G>A	8.37:g.132982776G>A	ENSP00000254624:p.Val349Ile	NA	A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	37	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	G	23.7	4.441885	0.83993	.	.	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T	0.35048	1.33;1.33;1.34	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.31606	0.0802	L	0.43923	1.385	0.80722	D	1	P	0.35401	0.499	B	0.29785	0.107	T	0.05022	-1.0911	10	0.25751	T	0.34	-23.4206	18.4707	0.90773	0.0:0.0:1.0:0.0	.	349	Q14156	EFR3A_HUMAN	I	349;349;349;313	ENSP00000254624:V349I;ENSP00000334769:V349I;ENSP00000428086:V313I	ENSP00000254624:V349I	V	+	1	0	EFR3A	133051958	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	9.473000	0.97714	2.622000	0.88805	0.591000	0.81541	GTT	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318886.1		+	ENST00000254624.5	Missense_Mutation	SNP	8 : 132982776 - 132982776 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	239	40
ZNF845	91664	broad.mit.edu	37	19	53855359	53855359	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53855359T>C	ENST00000595091.1	+	5	1650	c.1431T>C	c.(1429-1431)agT>agC	p.S477S	ZNF845_ENST00000458035.1_Silent_p.S477S			Q96IR2	ZN845_HUMAN	zinc finger protein 845	477					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AGACCTTCAGTCAGACATCAT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	30	31			NA	NA	19		NA											NA				53855359		692	1590	2282	SO:0001819	synonymous_variant			BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799	91664	91664		Zinc fingers, C2H2-type, -	25112	protein-coding gene	gene with protein product					NA		Standard	XM_039908	NM_138374	NA	Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1431T>C	19.37:g.53855359T>C		NA		37	CCDS46170.1																																																																																			ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464359.1		+	ENST00000595091.1	Silent	SNP	19 : 53855359 - 53855359 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	491	82
SP2	6668	broad.mit.edu	37	17	45994216	45994216	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45994216C>A	ENST00000376741.4	+	3	916	c.779C>A	c.(778-780)gCt>gAt	p.A260D	AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000451140.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	260					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						CCCCCTGTGGCTGTGGCTGAG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	109	107			NA	NA	17		NA											NA				45994216		2203	4300	6503	SO:0001583	missense				CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182	6668	6668		Specificity protein transcription factors, Zinc fingers, C2H2-type	11207	protein-coding gene	gene with protein product		601801			NA	1341900, 9730617	Standard	NM_003110	NM_003110	NA	Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.779C>A	17.37:g.45994216C>A	ENSP00000365931:p.Ala260Asp	NA	A6NK74	37	CCDS11521.2	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613810	0.87359	.	.	ENSG00000167182	ENST00000376741	T	0.10477	2.87	5.31	5.31	0.75309	.	0.123853	0.56097	D	0.000039	T	0.16085	0.0387	L	0.34521	1.04	0.54753	D	0.999987	D	0.60575	0.988	P	0.51657	0.676	T	0.01440	-1.1354	10	0.30078	T	0.28	.	17.9058	0.88918	0.0:1.0:0.0:0.0	.	260	Q02086	SP2_HUMAN	D	260	ENSP00000365931:A260D	ENSP00000365931:A260D	A	+	2	0	SP2	43349215	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	4.424000	0.59868	2.768000	0.95171	0.467000	0.42956	GCT	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316777.1		+	ENST00000376741.4	Missense_Mutation	SNP	17 : 45994216 - 45994216 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1028	174
RP11-762I7.5	0	broad.mit.edu	37	12	56212807	56212807	+	Silent	SNP	C	C	T	rs139659445	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56212807C>T	ENST00000546837.1	-	6	973				ORMDL2_ENST00000548974.1_Silent_p.S8S|ORMDL2_ENST00000552672.1_Intron|ORMDL2_ENST00000550836.1_Intron|ORMDL2_ENST00000243045.5_Silent_p.S8S|RP11-762I7.5_ENST00000552719.1_Intron						NA											NA						TGGCACACAGCGAAGTAAACC	0.527		NA											C	2	9e-04	0.0041	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	9e-04	0.9768	LOWCOV,EXOME	NA	NA	0.0014	SNP								NA				0								C		1,4405	2.1+/-5.4	0,1,2202	130	109	116		24	-2.8	1	12	dbSNP_134	116	0,8600		0,0,4300	no	coding-synonymous	ORMDL2	NM_014182.4		0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077		8/154	56212807	1,13005	2203	4300	6503	SO:0001627	intron_variant											NA	NA			NA							NA					NA						ENST00000546837.1:c.973+2977G>A	12.37:g.56212807C>T		NA		37																																																																																				RP11-762I7.5-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000409202.1		-	ENST00000546837.1	Intron	SNP	12 : 56212807 - 56212807 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	222	37
IFI27	3429	broad.mit.edu	37	14	94582203	94582203	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94582203G>T	ENST00000557634.1	+	3	262	c.168G>T	c.(166-168)aaG>aaT	p.K56N	IFI27_ENST00000444961.1_Missense_Mutation_p.K69N|IFI27_ENST00000298902.5_Missense_Mutation_p.K66N|IFI27_ENST00000557098.1_Missense_Mutation_p.K21N|IFI27_ENST00000448882.1_Missense_Mutation_p.K69N|IFI27_ENST00000555744.1_Missense_Mutation_p.K66N			P40305	IFI27_HUMAN	interferon, alpha-inducible protein 27	66					activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion				breast(1)|lung(3)	4				Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)		TAGCAGCCAAGATGATGTCCG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(128;797 1667 20895 29868 47129)							NA				0													38	30	33			NA	NA	14		NA											NA				94582203		2203	4299	6502	SO:0001583	missense			X67325	CCDS32148.1	14q32.12	2012-10-02			ENSG00000165949	ENSG00000165949	3429	3429			5397	protein-coding gene	gene with protein product		600009			NA	8358738	Standard	NM_005532	NM_005532	NA	Approved	P27, FAM14D	uc021sba.1	P40305	OTTHUMG00000171303	ENST00000557634.1:c.168G>T	14.37:g.94582203G>T	ENSP00000452560:p.Lys56Asn	NA	Q53YA6|Q6IEC1|Q96BK3	37		.	.	.	.	.	.	.	.	.	.	G	8.481	0.859737	0.17178	.	.	ENSG00000165949	ENST00000444961;ENST00000448882;ENST00000557098;ENST00000556544;ENST00000298902;ENST00000557634;ENST00000555744	T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37	3.52	1.67	0.24075	.	0.553031	0.19684	N	0.108458	T	0.53351	0.1791	M	0.83692	2.655	0.39283	D	0.964603	D	0.63880	0.993	D	0.63192	0.912	T	0.55186	-0.8180	10	0.66056	D	0.02	.	5.5879	0.17285	0.2502:0.0:0.7498:0.0	.	66	P40305	IFI27_HUMAN	N	69;69;21;66;66;56;66	ENSP00000413536:K69N;ENSP00000410901:K69N;ENSP00000450753:K21N;ENSP00000451875:K66N;ENSP00000298902:K66N;ENSP00000452560:K56N;ENSP00000451956:K66N	ENSP00000298902:K66N	K	+	3	2	IFI27	93651956	0.001000	0.12720	0.997000	0.53966	0.032000	0.12392	-0.770000	0.04705	0.475000	0.27415	0.563000	0.77884	AAG	IFI27-012	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000412888.1		+	ENST00000557634.1	Missense_Mutation	SNP	14 : 94582203 - 94582203 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	79	12
TNN	63923	broad.mit.edu	37	1	175049459	175049459	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175049459C>T	ENST00000239462.4	+	4	1058	c.945C>T	c.(943-945)agC>agT	p.S315S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	315	Fibronectin type-III 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGCAGCACAGCTATGAGATTC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	114	116			NA	NA	1		NA											NA				175049459		2203	4300	6503	SO:0001819	synonymous_variant			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332	63923	63923		Fibrinogen C domain containing, Fibronectin type III domain containing	22942	protein-coding gene	gene with protein product					NA		Standard	XM_040527	NM_022093	NA	Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.945C>T	1.37:g.175049459C>T		NA	B9EGP3|Q5R360	37	CCDS30943.1																																																																																			TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084422.1		+	ENST00000239462.4	Silent	SNP	1 : 175049459 - 175049459 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	428	16
ZNF783	100289678	broad.mit.edu	37	7	148978788	148978788	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148978788G>A	ENST00000434415.1	+	6	1158	c.995G>A	c.(994-996)gGg>gAg	p.G332E	ZNF783_ENST00000489518.1_Intron	NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			CGGCCACCGGGGGCCAGTGGG	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													7	9	8			NA	NA	7		NA											NA				148978788		1762	3898	5660	SO:0001583	missense			AK131504	CCDS56519.1	7q36.1	2013-01-08	2008-05-28		ENSG00000204946	ENSG00000204946	100289678	100289678		Zinc fingers, C2H2-type, -	27222	protein-coding gene	gene with protein product					NA	8619474, 9110174	Standard	NM_001195220	NM_001195220	NA	Approved	DKFZp667J212	uc011kuo.2	Q6ZMS7	OTTHUMG00000158969	ENST00000434415.1:c.995G>A	7.37:g.148978788G>A	ENSP00000410890:p.Gly332Glu	NA		37	CCDS56519.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295454	0.40594	.	.	ENSG00000204946	ENST00000434415	T	0.05199	3.48	4.79	1.72	0.24424	.	.	.	.	.	T	0.03695	0.0105	L	0.34521	1.04	0.09310	N	1	.	.	.	.	.	.	T	0.43196	-0.9406	7	0.05436	T	0.98	.	3.8412	0.08915	0.1017:0.1558:0.5706:0.1719	.	.	.	.	E	332	ENSP00000410890:G332E	ENSP00000410890:G332E	G	+	2	0	ZNF783	148609721	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	-0.965000	0.03829	0.520000	0.28426	0.655000	0.94253	GGG	ZNF783-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352715.1		+	ENST00000434415.1	Missense_Mutation	SNP	7 : 148978788 - 148978788 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	149	29
ARHGAP24	83478	broad.mit.edu	37	4	86491742	86491742	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:86491742G>A	ENST00000395184.1	+	2	514	c.48G>A	c.(46-48)ggG>ggA	p.G16G	ARHGAP24_ENST00000506421.1_3'UTR|ARHGAP24_ENST00000503995.1_Silent_p.G16G	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	16					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AAGGCCAAGGGCGGCAGAATG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	75	79			NA	NA	4		NA											NA				86491742		2203	4300	6503	SO:0001819	synonymous_variant			AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639	83478	83478		Rho GTPase activating proteins, Pleckstrin homology (PH) domain containing	25361	protein-coding gene	gene with protein product		610586			NA	11230166, 15254788	Standard	NM_031305	NM_001042669	NA	Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.48G>A	4.37:g.86491742G>A		NA	Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	37	CCDS34025.1																																																																																			ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252815.2		+	ENST00000395184.1	Silent	SNP	4 : 86491742 - 86491742 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	50
GRIN2C	2905	broad.mit.edu	37	17	72842218	72842218	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72842218C>A	ENST00000293190.5	-	11	2483	c.2337G>T	c.(2335-2337)caG>caT	p.Q779H	GRIN2C_ENST00000347612.4_Missense_Mutation_p.Q779H	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	779					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CCCCCAGGAACTGCAAGAGCG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	115	124			NA	NA	17		NA											NA				72842218		2203	4300	6503	SO:0001583	missense				CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509	2905	2905		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4587	protein-coding gene	gene with protein product		138254		NMDAR2C	NA	9480759	Standard		NM_001278553	NA	Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.2337G>T	17.37:g.72842218C>A	ENSP00000293190:p.Gln779His	NA	B2RTT1	37	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774255	0.31411	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.28069	1.63	4.21	2.16	0.27623	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.39358	0.1075	L	0.37850	1.14	0.51233	D	0.999914	D;D	0.71674	0.998;0.99	D;D	0.65140	0.932;0.913	T	0.17258	-1.0375	10	0.87932	D	0	.	10.0838	0.42406	0.0:0.8309:0.0:0.1691	.	813;779	Q8IW23;Q14957	.;NMDE3_HUMAN	H	779;813	ENSP00000293190:Q779H	ENSP00000293190:Q779H	Q	-	3	2	GRIN2C	70353813	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.192000	0.50989	0.504000	0.28082	0.561000	0.74099	CAG	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000103824.1		-	ENST00000293190.5	Missense_Mutation	SNP	17 : 72842218 - 72842218 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	698	103
ABHD1	84696	broad.mit.edu	37	2	27352776	27352776	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27352776C>T	ENST00000316470.4	+	6	886	c.772C>T	c.(772-774)Ctc>Ttc	p.L258F		NM_032604.3	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	258						integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTGCTGGGCTCTGCCAACT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	50	50			NA	NA	2		NA											NA				27352776		2203	4300	6503	SO:0001583	missense			AK093447	CCDS1736.1	2p23.3	2011-01-21			ENSG00000143994	ENSG00000143994	84696	84696		Abhydrolase domain containing	17553	protein-coding gene	gene with protein product		612195			NA	11922611	Standard	NM_032604	NM_032604	NA	Approved	LABH1, FLJ36128	uc002rit.3	Q96SE0	OTTHUMG00000097072	ENST00000316470.4:c.772C>T	2.37:g.27352776C>T	ENSP00000326491:p.Leu258Phe	NA	Q05BY3|Q53SZ1|Q8IXQ7	37	CCDS1736.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131254	0.56828	.	.	ENSG00000143994	ENST00000316470	T	0.71222	-0.55	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000008	D	0.88005	0.6321	M	0.93808	3.46	0.48762	D	0.9997	D	0.89917	1.0	D	0.87578	0.998	D	0.90798	0.4692	10	0.87932	D	0	-15.2943	16.0869	0.81060	0.0:1.0:0.0:0.0	.	258	Q96SE0	ABHD1_HUMAN	F	258	ENSP00000326491:L258F	ENSP00000326491:L258F	L	+	1	0	ABHD1	27206280	0.986000	0.35501	0.962000	0.40283	0.262000	0.26303	2.752000	0.47516	2.655000	0.90218	0.655000	0.94253	CTC	ABHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214188.1		+	ENST00000316470.4	Missense_Mutation	SNP	2 : 27352776 - 27352776 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	250	48
C3orf38	285237	broad.mit.edu	37	3	88205716	88205716	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:88205716A>G	ENST00000486971.1	+	0	881				C3orf38_ENST00000318887.3_Silent_p.V307V			Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	NA					apoptosis					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TAATCACTGTATGTGGTACCA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	74	73			NA	NA	3		NA											NA				88205716		2203	4300	6503	SO:0001624	3_prime_UTR_variant			AL832398	CCDS2921.1, CCDS2921.2	3p11.1	2011-01-25			ENSG00000179021	ENSG00000179021	285237	285237			28384	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_173824	NM_173824	NA	Approved	MGC26717	uc003dqw.3	Q5JPI3	OTTHUMG00000155752	ENST00000486971.1:c.*392A>G	3.37:g.88205716A>G		NA	B2R8X6|Q8TC85	37																																																																																				C3orf38-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000353437.1		+	ENST00000486971.1	3'UTR	SNP	3 : 88205716 - 88205716 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	37
PTK2	5747	broad.mit.edu	37	8	141799596	141799596	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141799596C>T	ENST00000522684.1	-	14	1383	c.1154G>A	c.(1153-1155)cGg>cAg	p.R385Q	PTK2_ENST00000517887.1_Missense_Mutation_p.R429Q|PTK2_ENST00000519419.1_Missense_Mutation_p.R429Q|PTK2_ENST00000395218.2_Missense_Mutation_p.R385Q|PTK2_ENST00000340930.3_Missense_Mutation_p.R385Q|PTK2_ENST00000521059.1_Missense_Mutation_p.R385Q|PTK2_ENST00000538769.1_Missense_Mutation_p.R46Q|PTK2_ENST00000535192.1_Missense_Mutation_p.R385Q	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	385					axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			GGCGTGTGTCCGCATGCCTTG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													249	227	235			NA	NA	8		NA											NA				141799596		2203	4300	6503	SO:0001583	missense			L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	5747	5747	2.7.10.1	Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	9611	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 71	600758	PTK2 protein tyrosine kinase 2		NA	8422239	Standard	NM_005607	NM_153831	NA	Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1154G>A	8.37:g.141799596C>T	ENSP00000429911:p.Arg385Gln	NA	Q14291|Q9UD85	37	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435814	0.83885	.	.	ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000521986;ENST00000342207	T;T;T;T;T;T;T;T;T;T	0.76578	-1.01;-0.98;-1.03;-1.01;-0.99;-0.94;-0.99;-0.95;-1.03;-1.0	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.77974	0.4211	L	0.50333	1.59	0.44309	D	0.997188	B;B;B;B;B;B;B;D	0.53619	0.181;0.373;0.11;0.336;0.222;0.074;0.055;0.961	B;B;B;B;B;B;B;P	0.48524	0.011;0.048;0.014;0.019;0.013;0.009;0.006;0.58	T	0.75260	-0.3380	10	0.32370	T	0.25	.	16.0731	0.80948	0.0:1.0:0.0:0.0	.	385;46;292;385;407;385;296;46	B4E2N6;B4DH13;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6;Q8N9D7	.;.;.;FAK1_HUMAN;.;.;.;.	Q	385;385;429;385;295;385;292;46;50;385;46;429;49;203	ENSP00000429911:R385Q;ENSP00000438009:R385Q;ENSP00000429082:R429Q;ENSP00000429474:R385Q;ENSP00000378644:R385Q;ENSP00000428492:R50Q;ENSP00000341189:R385Q;ENSP00000445742:R46Q;ENSP00000429129:R429Q;ENSP00000430603:R49Q	ENSP00000341189:R385Q	R	-	2	0	PTK2	141868778	0.998000	0.40836	0.989000	0.46669	0.995000	0.86356	4.196000	0.58407	2.941000	0.99782	0.655000	0.94253	CGG	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378054.5		-	ENST00000522684.1	Missense_Mutation	SNP	8 : 141799596 - 141799596 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1041	213
TJP3	27134	broad.mit.edu	37	19	3747908	3747908	+	Silent	SNP	C	C	T	rs148869242		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3747908C>T	ENST00000541714.2	+	19	2901	c.2439C>T	c.(2437-2439)ggC>ggT	p.G813G	TJP3_ENST00000539908.2_Silent_p.G777G|TJP3_ENST00000589378.1_Silent_p.G822G|TJP3_ENST00000587686.1_Silent_p.G832G|TJP3_ENST00000382008.3_Silent_p.G827G|TJP3_ENST00000262968.9_Silent_p.G846G	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	827						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGGCGAGGGCGGCGCGTACA	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	32	33			NA	NA	19		NA											NA				3747908		2202	4299	6501	SO:0001819	synonymous_variant			AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289	27134	27134			11829	protein-coding gene	gene with protein product	zona occludens 3	612689			NA		Standard		NM_001267560	NA	Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.2439C>T	19.37:g.3747908C>T		NA	A6NFP3|Q32N01	37	CCDS32873.2																																																																																			TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453434.1		+	ENST00000541714.2	Silent	SNP	19 : 3747908 - 3747908 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	283	48
APC2	10297	broad.mit.edu	37	19	1467886	1467886	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1467886G>A	ENST00000535453.1	+	14	6299	c.4586G>A	c.(4585-4587)cGc>cAc	p.R1529H	APC2_ENST00000238483.4_Missense_Mutation_p.R1255H|APC2_ENST00000233607.2_Missense_Mutation_p.R1529H|C19orf25_ENST00000588427.1_Intron			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	1529	5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.|Interaction with CTNNB1.|Pro-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCCACCGGCGCACATCGGCC	0.736		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													6	8	7			NA	NA	19		NA											NA				1467886		1972	3956	5928	SO:0001583	missense				CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266	10297	10297		Armadillo repeat containing	24036	protein-coding gene	gene with protein product	adenomatous polyposis coli like	612034			NA	9823329, 10021369	Standard	NM_005883	XM_005259475	NA	Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.4586G>A	19.37:g.1467886G>A	ENSP00000442954:p.Arg1529His	NA	Q05BW4|Q9UBZ1|Q9UEM8|Q9UQJ8|Q9UQJ9|Q9Y632	37	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.430216	0.43122	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	D;D;D	0.92699	-3.09;-2.74;-3.09	3.32	0.576	0.17380	.	2.002530	0.02410	N	0.081577	D	0.87977	0.6314	L	0.44542	1.39	0.19575	N	0.999969	B;B	0.19935	0.04;0.024	B;B	0.08055	0.003;0.001	T	0.73874	-0.3845	10	0.62326	D	0.03	-13.3497	4.1126	0.10065	0.5113:0.0:0.4887:0.0	.	1528;1529	O95996-3;O95996	.;APC2_HUMAN	H	1529;1255;1529	ENSP00000233607:R1529H;ENSP00000238483:R1255H;ENSP00000442954:R1529H	ENSP00000233607:R1529H	R	+	2	0	APC2	1418886	0.001000	0.12720	0.047000	0.18901	0.003000	0.03518	0.861000	0.27885	0.521000	0.28445	-0.436000	0.05848	CGC	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449539.2		+	ENST00000535453.1	Missense_Mutation	SNP	19 : 1467886 - 1467886 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	119	15
FAM179B	23116	broad.mit.edu	37	14	45432435	45432435	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45432435G>A	ENST00000361462.2	+	1	994	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	FAM179B_ENST00000361577.3_Missense_Mutation_p.E271K|FAM179B_ENST00000382233.2_Missense_Mutation_p.E271K			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	271							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GGAGACAGAAGAAGAATCTGA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	93	91			NA	NA	14		NA											NA				45432435		2203	4300	6503	SO:0001583	missense			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718	23116	23116			19959	protein-coding gene	gene with protein product			KIAA0423	KIAA0423	NA		Standard	XM_113781	XM_005267451	NA	Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361462.2:c.811G>A	14.37:g.45432435G>A	ENSP00000354917:p.Glu271Lys	NA	Q68D66|Q6PG27	37		.	.	.	.	.	.	.	.	.	.	G	20.5	4.001673	0.74932	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.52983	0.64;0.64;0.64	5.05	5.05	0.67936	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.50627	D	0.000111	T	0.32526	0.0832	N	0.19112	0.55	0.36094	D	0.84367	P;B;B;P	0.42296	0.775;0.167;0.167;0.649	B;B;B;B	0.36666	0.23;0.124;0.085;0.23	T	0.49862	-0.8894	10	0.66056	D	0.02	-15.5345	13.7639	0.62983	0.0:0.0:1.0:0.0	.	271;271;271;271	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	K	271	ENSP00000355045:E271K;ENSP00000354917:E271K;ENSP00000371668:E271K	ENSP00000354917:E271K	E	+	1	0	FAM179B	44502185	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.307000	0.51888	2.619000	0.88677	0.561000	0.74099	GAA	FAM179B-002	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000276792.1		+	ENST00000361462.2	Missense_Mutation	SNP	14 : 45432435 - 45432435 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	626	110
ACSBG2	81616	broad.mit.edu	37	19	6185467	6185467	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6185467G>A	ENST00000588304.1	+	11	1639	c.1193G>A	c.(1192-1194)gGg>gAg	p.G398E	ACSBG2_ENST00000588485.1_Missense_Mutation_p.G261E|ACSBG2_ENST00000591403.1_Missense_Mutation_p.G448E|ACSBG2_ENST00000586696.1_Missense_Mutation_p.G448E|ACSBG2_ENST00000252669.5_Missense_Mutation_p.G448E|ACSBG2_ENST00000591741.1_3'UTR			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	448					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATCTTGACTGGGTGTAAGAAT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													230	214	219			NA	NA	19		NA											NA				6185467		2203	4300	6503	SO:0001583	missense				CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377	81616	81616		Acyl-CoA synthetase family	24174	protein-coding gene	gene with protein product	bubblegum related protein	614363			NA	11230166	Standard	NM_030924	XM_005259653	NA	Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000588304.1:c.1193G>A	19.37:g.6185467G>A	ENSP00000464938:p.Gly398Glu	NA	B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	37		.	.	.	.	.	.	.	.	.	.	G	17.97	3.517510	0.64634	.	.	ENSG00000130377	ENST00000252669	T	0.15487	2.42	4.76	4.76	0.60689	AMP-dependent synthetase/ligase (1);	0.000000	0.44483	D	0.000445	T	0.48314	0.1493	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.994;0.999	T	0.58132	-0.7690	10	0.72032	D	0.01	-22.657	16.3481	0.83151	0.0:0.0:1.0:0.0	.	448;448	B4DYU1;Q5FVE4	.;ACBG2_HUMAN	E	448	ENSP00000252669:G448E	ENSP00000252669:G448E	G	+	2	0	ACSBG2	6136467	1.000000	0.71417	0.555000	0.28281	0.355000	0.29361	6.292000	0.72725	2.208000	0.71279	0.555000	0.69702	GGG	ACSBG2-007	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000452894.1		+	ENST00000588304.1	Missense_Mutation	SNP	19 : 6185467 - 6185467 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1543	257
RIMBP2	23504	broad.mit.edu	37	12	130898738	130898738	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130898738G>A	ENST00000261655.4	-	14	2747	c.2584C>T	c.(2584-2586)Ctc>Ttc	p.L862F		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	862	SH3 2.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GACATGGTGAGCGGGTCGTAG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	91	89			NA	NA	12		NA											NA				130898738		2203	4300	6503	SO:0001583	missense			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709	23504	23504			30339	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 133	611602			NA	10748113	Standard	NM_015347	NM_015347	NA	Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2584C>T	12.37:g.130898738G>A	ENSP00000261655:p.Leu862Phe	NA	Q96ID2	37	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654843	0.67472	.	.	ENSG00000060709	ENST00000261655	T	0.30448	1.53	4.37	4.37	0.52481	Src homology-3 domain (3);Variant SH3 (1);	0.156920	0.44285	D	0.000471	T	0.30386	0.0763	L	0.31476	0.935	0.80722	D	1	P	0.49307	0.922	P	0.52554	0.702	T	0.01982	-1.1235	10	0.14252	T	0.57	-30.3853	12.4072	0.55447	0.0:0.0:0.8317:0.1683	.	862	O15034	RIMB2_HUMAN	F	862	ENSP00000261655:L862F	ENSP00000261655:L862F	L	-	1	0	RIMBP2	129464691	0.997000	0.39634	0.899000	0.35326	0.990000	0.78478	2.452000	0.44961	2.117000	0.64856	0.650000	0.86243	CTC	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399520.1		-	ENST00000261655.4	Missense_Mutation	SNP	12 : 130898738 - 130898738 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	645	110
YWHAH	7533	broad.mit.edu	37	22	32352162	32352162	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32352162C>T	ENST00000397492.1	+	0	451				YWHAH_ENST00000248975.5_Nonsense_Mutation_p.R42*|YWHAH_ENST00000471374.1_3'UTR			Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta	NA					glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity	cytoplasm	enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						CAATGAAGATCGAAATCTCCT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(98;460 2060 9263 44007)							NA				0													101	93	96			NA	NA	22		NA											NA				32352162		2203	4300	6503	SO:0001624	3_prime_UTR_variant			X78138	CCDS13901.1	22q12.1-q13.1	2013-12-03	2013-12-03		ENSG00000128245	ENSG00000128245	7533	7533			12853	protein-coding gene	gene with protein product	14-3-3 eta	113508	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide	YWHA1	NA		Standard	NM_003405	NM_003405	NA	Approved		uc003alz.3	Q04917	OTTHUMG00000030833	ENST00000397492.1:c.*20C>T	22.37:g.32352162C>T		NA		37		.	.	.	.	.	.	.	.	.	.	C	13.91	2.378687	0.42207	.	.	ENSG00000128245	ENST00000248975;ENST00000420430	.	.	.	5.95	2.6	0.31112	.	0.075854	0.52532	D	0.000065	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.0057	9.3128	0.37915	0.4046:0.5275:0.0:0.0679	.	.	.	.	X	42;29	.	ENSP00000248975:R42X	R	+	1	2	YWHAH	30682162	0.267000	0.24122	1.000000	0.80357	0.995000	0.86356	0.191000	0.17076	0.349000	0.23975	0.655000	0.94253	CGA	YWHAH-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000128919.2		+	ENST00000397492.1	3'UTR	SNP	22 : 32352162 - 32352162 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	103
NELL2	4753	broad.mit.edu	37	12	44913995	44913995	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:44913995A>G	ENST00000429094.2	-	19	2697	c.2193T>C	c.(2191-2193)tgT>tgC	p.C731C	NELL2_ENST00000549027.1_Silent_p.C730C|NELL2_ENST00000395487.2_Silent_p.C730C|NELL2_ENST00000452445.2_Silent_p.C731C|NELL2_ENST00000551601.1_Silent_p.C683C|NELL2_ENST00000437801.2_Silent_p.C781C|NELL2_ENST00000333837.4_Silent_p.C754C	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	731	VWFC 4.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GCAGGGGCCAACAATCAACTT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	44	47			NA	NA	12		NA											NA				44913995		2203	4300	6503	SO:0001819	synonymous_variant			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613	4753	4753			7751	protein-coding gene	gene with protein product		602320	nel (chicken)-like 2		NA	19249368	Standard	NM_006159	NM_006159	NA	Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.2193T>C	12.37:g.44913995A>G		NA		37	CCDS8746.1																																																																																			NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404180.1		-	ENST00000429094.2	Silent	SNP	12 : 44913995 - 44913995 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	117	13
HTR3E	285242	broad.mit.edu	37	3	183822576	183822576	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183822576A>G	ENST00000415389.2	+	5	857	c.391A>G	c.(391-393)Atg>Gtg	p.M131V	HTR3E_ENST00000425359.2_Splice_Site_p.M116V|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000436361.2_Splice_Site_p.M131V|HTR3E_ENST00000440596.2_Splice_Site_p.M157V|HTR3E_ENST00000335304.2_Splice_Site_p.M146V	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	131						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CTCCTCCAGCATGGATGTGGA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(7;227 727 6634 44770)							NA				0													103	96	98			NA	NA	3		NA											NA				183822576		2203	4300	6503	SO:0001630	splice_region_variant			AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038	285242	285242		5-HT (serotonin) receptors, Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic	24005	protein-coding gene	gene with protein product		610123	5-hydroxytryptamine (serotonin) receptor 3, family member E		NA	12801637, 15157181	Standard	NM_182589	NM_001256613	NA	Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.390-1A>G	3.37:g.183822576A>G		NA	Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	37	CCDS58868.1	.	.	.	.	.	.	.	.	.	.	a	0.025	-1.378657	0.01204	.	.	ENSG00000186038	ENST00000415389;ENST00000425359;ENST00000335304;ENST00000431041;ENST00000436361;ENST00000440596	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.01	3.29	2.12	0.27331	Neurotransmitter-gated ion-channel ligand-binding (3);	0.329657	0.24405	U	0.038803	T	0.58366	0.2117	L	0.28192	0.835	0.23506	N	0.997531	B;B;B;B;B	0.17038	0.003;0.003;0.02;0.02;0.002	B;B;B;B;B	0.16289	0.008;0.01;0.015;0.015;0.006	T	0.34900	-0.9810	10	0.11485	T	0.65	.	6.6043	0.22716	0.8775:0.0:0.1225:0.0	.	157;131;131;146;116	E9PGF1;A5X5Y0;A5X5Y0-4;A5X5Y0-3;A5X5Y0-2	.;5HT3E_HUMAN;.;.;.	V	131;116;146;60;131;157	ENSP00000401444:M131V;ENSP00000401900:M116V;ENSP00000335511:M146V;ENSP00000391254:M60V;ENSP00000395833:M131V;ENSP00000406050:M157V	ENSP00000335511:M146V	M	+	1	0	HTR3E	185305270	0.379000	0.25123	0.070000	0.20053	0.227000	0.25037	0.614000	0.24314	0.479000	0.27511	-0.326000	0.08463	ATG	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346284.1	Missense_Mutation	+	ENST00000415389.2	Splice_Site	SNP	3 : 183822576 - 183822576 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	453	19
GBE1	2632	broad.mit.edu	37	3	81699009	81699009	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:81699009C>T	ENST00000429644.2	-	4	1136	c.493G>A	c.(493-495)Gtt>Att	p.V165I	GBE1_ENST00000489715.1_Missense_Mutation_p.V124I	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	165					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		CCTTCACGAACCACATACTTT	0.338		NA							Glycogen Storage Disease, type IV					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	97	97			NA	NA	3		NA											NA				81699009		1873	4116	5989	SO:0001583	missense	Familial Cancer Database	Andersen Disease, Brancher deficiency		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2632	2632	2.4.1.18		4180	protein-coding gene	gene with protein product	glycogen branching enzyme, Andersen disease, glycogen storage disease type IV	607839			NA	8463281	Standard		NM_000158	NA	Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.493G>A	3.37:g.81699009C>T	ENSP00000410833:p.Val165Ile	NA	Q96EN0	37	CCDS54612.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056943	0.36277	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715	T;T	0.19250	2.16;2.16	5.83	-2.4	0.06583	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	1.140370	0.06154	N	0.674717	T	0.16811	0.0404	L	0.31157	0.91	0.19575	N	0.999967	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.38415	-0.9662	10	0.52906	T	0.07	-0.2979	12.0024	0.53240	0.0:0.4188:0.0:0.5812	.	124;165	E9PGM4;Q04446	.;GLGB_HUMAN	I	165;216;124	ENSP00000410833:V165I;ENSP00000419638:V124I	ENSP00000264326:V216I	V	-	1	0	GBE1	81781699	0.028000	0.19301	0.800000	0.32199	0.881000	0.50899	-0.013000	0.12678	-0.503000	0.06586	0.650000	0.86243	GTT	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352760.2		-	ENST00000429644.2	Missense_Mutation	SNP	3 : 81699009 - 81699009 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	209	34
FAM149A	25854	broad.mit.edu	37	4	187078767	187078767	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187078767C>T	ENST00000502970.1	+	7	1041	c.623C>T	c.(622-624)cCg>cTg	p.P208L	FAM149A_ENST00000503432.1_Missense_Mutation_p.P208L|FAM149A_ENST00000514153.1_Missense_Mutation_p.P208L|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000356371.5_Missense_Mutation_p.P499L|FAM149A_ENST00000227065.4_Missense_Mutation_p.P208L|FAM149A_ENST00000389354.5_Missense_Mutation_p.P208L			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	499										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		AACAGATTTCCGCACGTCCTC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	81	78			NA	NA	4		NA											NA				187078767		2203	4300	6503	SO:0001583	missense			AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794	25854	25854			24527	protein-coding gene	gene with protein product					NA		Standard	NM_001006655	NM_015398	NA	Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000502970.1:c.623C>T	4.37:g.187078767C>T	ENSP00000427155:p.Pro208Leu	NA	B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	37	CCDS34117.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.353175	0.24512	.	.	ENSG00000109794	ENST00000503432;ENST00000356371;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354	T;T;T;T;T;T	0.13307	2.63;2.6;2.63;2.63;2.63;2.63	4.77	2.07	0.26955	.	0.475510	0.22929	N	0.053939	T	0.10165	0.0249	L	0.48362	1.52	0.09310	N	1	B;B;B	0.28850	0.054;0.032;0.225	B;B;B	0.17722	0.011;0.006;0.019	T	0.21449	-1.0245	10	0.51188	T	0.08	-2.3135	5.3957	0.16268	0.1608:0.6666:0.0:0.1725	.	499;499;208	A5PLN7-3;A5PLN7;B4DHZ9	.;F149A_HUMAN;.	L	208;499;208;208;208;208	ENSP00000426835:P208L;ENSP00000348732:P499L;ENSP00000227065:P208L;ENSP00000427155:P208L;ENSP00000424380:P208L;ENSP00000374005:P208L	ENSP00000227065:P208L	P	+	2	0	FAM149A	187315761	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	0.478000	0.22212	0.326000	0.23384	-0.272000	0.10252	CCG	FAM149A-006	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361206.1		+	ENST00000502970.1	Missense_Mutation	SNP	4 : 187078767 - 187078767 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	429	58
KIRREL2	84063	broad.mit.edu	37	19	36355551	36355551	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36355551G>A	ENST00000360202.5	+	14	1925	c.1727G>A	c.(1726-1728)gGc>gAc	p.G576D	KIRREL2_ENST00000592409.1_Splice_Site_p.G541D|KIRREL2_ENST00000347900.6_Splice_Site_p.G526D|KIRREL2_ENST00000262625.7_Splice_Site_p.G576D|NPHS1_ENST00000591817.1_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	576					cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTACCCCAGGGCCCCATTGTG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													195	184	188			NA	NA	19		NA											NA				36355551		2203	4300	6503	SO:0001630	splice_region_variant			AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259	84063	84063		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	18816	protein-coding gene	gene with protein product		607762			NA	12837264, 12504092	Standard	NM_032123	NM_199180	NA	Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.1726-1G>A	19.37:g.36355551G>A		NA	C9JHF1|C9JJ76|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	37	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855359	0.51376	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658;ENST00000270294	T;T;T	0.67698	-0.27;-0.04;-0.28	4.05	4.05	0.47172	.	0.410909	0.18096	N	0.151833	T	0.68943	0.3056	L	0.44542	1.39	0.37330	D	0.909922	P;D;P;D;D	0.63046	0.954;0.973;0.954;0.992;0.992	P;P;P;P;P	0.54544	0.476;0.676;0.476;0.755;0.676	T	0.74166	-0.3753	10	0.54805	T	0.06	-5.1472	12.4423	0.55631	0.0:0.0:1.0:0.0	.	576;556;576;526;576	F1T0I2;Q6UWL6-4;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;.;KIRR2_HUMAN;.;.	D	576;526;576;556;87	ENSP00000262625:G576D;ENSP00000345067:G526D;ENSP00000353331:G576D	ENSP00000262625:G576D	G	+	2	0	KIRREL2	41047391	1.000000	0.71417	0.991000	0.47740	0.924000	0.55760	2.618000	0.46393	2.221000	0.72209	0.313000	0.20887	GGC	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452561.1	Missense_Mutation	+	ENST00000360202.5	Splice_Site	SNP	19 : 36355551 - 36355551 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	306	68
PLEKHA7	144100	broad.mit.edu	37	11	16863183	16863183	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16863183G>T	ENST00000531066.1	-	9	824	c.783C>A	c.(781-783)taC>taA	p.Y261*	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000355661.3_Nonsense_Mutation_p.Y261*|PLEKHA7_ENST00000448080.2_Nonsense_Mutation_p.Y261*			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	261	PH.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CGGCACTGAAGTAGTAGGTCC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	98	106			NA	NA	11		NA											NA				16863183		2200	4294	6494	SO:0001587	stop_gained			BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689	144100	144100		Pleckstrin homology (PH) domain containing	27049	protein-coding gene	gene with protein product		612686			NA	12477932	Standard	NM_175058	NM_175058	NA	Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000531066.1:c.783C>A	11.37:g.16863183G>T	ENSP00000435389:p.Tyr261*	NA	B4DK33|B4DWC3|Q86VZ7	37		.	.	.	.	.	.	.	.	.	.	G	36	5.775681	0.96922	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080	.	.	.	5.16	1.26	0.21427	.	0.050847	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.6783	10.5457	0.45058	0.2786:0.0:0.7214:0.0	.	.	.	.	X	261	.	ENSP00000347883:Y261X	Y	-	3	2	PLEKHA7	16819759	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.571000	0.53841	0.440000	0.26502	0.650000	0.86243	TAC	PLEKHA7-002	PUTATIVE	not_organism_supported|basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000387236.1		-	ENST00000531066.1	Nonsense_Mutation	SNP	11 : 16863183 - 16863183 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	427	92
GBX2	2637	broad.mit.edu	37	2	237076102	237076102	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237076102C>A	ENST00000306318.4	-	1	910	c.513G>T	c.(511-513)caG>caT	p.Q171H	GBX2_ENST00000551105.1_Missense_Mutation_p.Q171H|AC079135.1_ENST00000415226.1_RNA	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	171				LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241).		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		CGAGCGAAGCCTGCACCGTCT	0.756		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													10	11	10			NA	NA	2		NA											NA				237076102		2073	4094	6167	SO:0001583	missense			AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505	2637	2637		Homeoboxes / ANTP class : HOXL subclass	4186	protein-coding gene	gene with protein product		601135	gastrulation brain homeo box 2		NA	9346236, 8838315	Standard	NM_001485	XM_005246071	NA	Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.513G>T	2.37:g.237076102C>A	ENSP00000302251:p.Gln171His	NA	B2RPH7|O43833|Q53RX5|Q9Y5Y1	37	CCDS2515.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.53|10.53	1.376234|1.376234	0.24857|0.24857	.|.	.|.	ENSG00000233611|ENSG00000168505	ENST00000415226|ENST00000306318;ENST00000551105	.|D	.|0.91996	.|-2.95	4.28|4.28	2.41|2.41	0.29592|0.29592	.|.	.|0.246616	.|0.34088	.|N	.|0.004272	T|T	0.80423|0.80423	0.4620|0.4620	N|N	0.08118|0.08118	0|0	0.26482|0.26482	N|N	0.975095|0.975095	.|B;B	.|0.09022	.|0.002;0.002	.|B;B	.|0.10450	.|0.005;0.001	T|T	0.68777|0.68777	-0.5319|-0.5319	5|10	.|0.33940	.|T	.|0.23	-14.2715|-14.2715	7.5684|7.5684	0.27894|0.27894	0.0:0.7251:0.0:0.2749|0.0:0.7251:0.0:0.2749	.|.	.|171;171	.|F8VY47;P52951	.|.;GBX2_HUMAN	M|H	5|171	.|ENSP00000302251:Q171H	.|ENSP00000302251:Q171H	L|Q	+|-	1|3	2|2	AC079135.1|GBX2	236740841|236740841	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.868000|0.868000	0.49771|0.49771	0.786000|0.786000	0.26844|0.26844	0.761000|0.761000	0.33130|0.33130	0.462000|0.462000	0.41574|0.41574	CTG|CAG	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257078.3		-	ENST00000306318.4	Missense_Mutation	SNP	2 : 237076102 - 237076102 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	161	29
BHLHE23	128408	broad.mit.edu	37	20	61637625	61637625	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61637625G>T	ENST00000370346.2	-	1	762	c.454C>A	c.(454-456)Ctc>Atc	p.L152I		NM_080606.3	NP_542173	Q8NDY6	BHE23_HUMAN	basic helix-loop-helix family, member e23	152	Helix-loop-helix motif.				transcription, DNA-dependent	nucleus	DNA binding			NS(1)	1						GCCTGCATGAGGATATAGTTC	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	24	24			NA	NA	20		NA											NA				61637625		2200	4297	6497	SO:0001583	missense			AL121673	CCDS33507.1, CCDS33507.2	20q13.33	2009-01-12	2009-01-12	2009-01-12	ENSG00000125533	ENSG00000125533	128408	128408		Basic helix-loop-helix proteins	16093	protein-coding gene	gene with protein product		609331	basic helix-loop-helix domain containing, class B, 4	BHLHB4	NA	11863370, 18557763	Standard	NM_080606	NM_080606	NA	Approved	bA305P22.3, Beta4, bHLHe23	uc002yeb.2	Q8NDY6	OTTHUMG00000032948	ENST00000370346.2:c.454C>A	20.37:g.61637625G>T	ENSP00000359371:p.Leu152Ile	NA	B2RP69	37	CCDS33507.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795670	0.70452	.	.	ENSG00000125533	ENST00000370346	D	0.98060	-4.69	3.39	3.39	0.38822	Helix-loop-helix DNA-binding (5);	0.000000	0.64402	U	0.000002	D	0.96549	0.8874	L	0.28115	0.83	0.80722	D	1	P	0.41366	0.747	P	0.54706	0.759	D	0.95625	0.8684	10	0.37606	T	0.19	-16.4293	13.7577	0.62946	0.0:0.0:1.0:0.0	.	152	Q8NDY6	BHE23_HUMAN	I	152	ENSP00000359371:L152I	ENSP00000359371:L152I	L	-	1	0	BHLHE23	61108070	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	5.137000	0.64789	1.421000	0.47157	0.491000	0.48974	CTC	BHLHE23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080095.2		-	ENST00000370346.2	Missense_Mutation	SNP	20 : 61637625 - 61637625 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	188	28
GRIK5	2901	broad.mit.edu	37	19	42546761	42546761	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42546761G>A	ENST00000262895.3	-	11	1415	c.1416C>T	c.(1414-1416)taC>taT	p.Y472Y	GRIK5_ENST00000301218.4_Silent_p.Y472Y|GRIK5_ENST00000593562.1_Silent_p.Y472Y	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	472						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CGGGCGCCCCGTACAGCCCAT	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		2,4404	2.1+/-5.4	0,2,2201	43	47	46		1416	-9.7	0.5	19		46	0,8598		0,0,4299	no	coding-synonymous	GRIK5	NM_002088.3		0,2,6500	AA,AG,GG	NA	0.0,0.0454,0.0154		472/981	42546761	2,13002	2203	4299	6502	SO:0001819	synonymous_variant				CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737	2901	2901		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4583	protein-coding gene	gene with protein product		600283		GRIK2	NA	7527545	Standard		NM_002088	NA	Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.1416C>T	19.37:g.42546761G>A		NA	Q8WWG8	37	CCDS12595.1																																																																																			GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463453.1		-	ENST00000262895.3	Silent	SNP	19 : 42546761 - 42546761 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	616	100
IGF2BP1	10642	broad.mit.edu	37	17	47115672	47115672	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47115672C>T	ENST00000290341.3	+	6	878	c.544C>T	c.(544-546)Cct>Tct	p.P182S	IGF2BP1_ENST00000431824.2_Intron	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	182					CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCAGGGCTCACCTGTGGCAGC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(198;1041 2123 8248 37119 38268)							NA				0													23	28	27			NA	NA	17		NA											NA				47115672		2203	4298	6501	SO:0001583	missense			AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217	10642	10642		RNA binding motif (RRM) containing	28866	protein-coding gene	gene with protein product	IGF II mRNA binding protein 1	608288			NA	9891060, 11992722	Standard	NM_006546	NM_001160423	NA	Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.544C>T	17.37:g.47115672C>T	ENSP00000290341:p.Pro182Ser	NA		37	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295090	0.60086	.	.	ENSG00000159217	ENST00000290341	T	0.20463	2.07	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.20495	0.0493	L	0.42744	1.35	0.80722	D	1	B	0.11235	0.004	B	0.13407	0.009	T	0.08953	-1.0697	10	0.10377	T	0.69	-6.9982	19.0998	0.93269	0.0:1.0:0.0:0.0	.	182	Q9NZI8	IF2B1_HUMAN	S	182	ENSP00000290341:P182S	ENSP00000290341:P182S	P	+	1	0	IGF2BP1	44470671	1.000000	0.71417	0.693000	0.30195	0.993000	0.82548	6.029000	0.70895	2.585000	0.87301	0.655000	0.94253	CCT	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364046.1		+	ENST00000290341.3	Missense_Mutation	SNP	17 : 47115672 - 47115672 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	61
RHOF	54509	broad.mit.edu	37	12	122219028	122219028	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122219028G>A	ENST00000537265.1	-	0	279				TMEM120B_ENST00000538055.1_3'UTR|RHOF_ENST00000537171.1_Silent_p.D99D|RHOF_ENST00000267205.2_Silent_p.D99D|TMEM120B_ENST00000449592.2_3'UTR			Q9HBH0	RHOF_HUMAN	ras homolog family member F (in filopodia)	NA					actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity			large_intestine(1)|lung(1)|ovary(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GATTCATGACGTCATAGCAGA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	123	127			NA	NA	12		NA											NA				122219028		2203	4300	6503					AK000254	CCDS9222.1	12q24.31	2013-09-23	2012-02-27	2004-03-24	ENSG00000139725	ENSG00000139725	54509	54509			15703	protein-coding gene	gene with protein product			ras homolog gene family, member F (in filopodia)	ARHF	NA	11084341	Standard		NM_019034	NA	Approved	FLJ20247, RIF	uc001ubb.3	Q9HBH0	OTTHUMG00000169077	ENST00000537265.1:c.-4C>T	12.37:g.122219028G>A		NA	Q8WVB1|Q9NXH6	37																																																																																				RHOF-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000402166.2		-	ENST00000537265.1	De_novo_Start_OutOfFrame	SNP	12 : 122219028 - 122219028 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	441	69
RET	5979	broad.mit.edu	37	10	43596002	43596002	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43596002C>T	ENST00000355710.3	+	2	401	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	RET_ENST00000340058.5_Missense_Mutation_p.R57W	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	57					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CCATGCCCTGCGGGACGCCCC	0.622		1	T, Mis, N, F	H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6	medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC	medullary thyroid,  papillary thyroid, pheochromocytoma	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	E, O	0													72	63	66			NA	NA	10		NA											NA				43596002		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731	5979	5979		Cadherins / Cadherin-related	9967	protein-coding gene	gene with protein product	cadherin-related family member 16	164761	multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease 1	HSCR1, MEN2A, MTC1, MEN2B	NA	2687772, 1611909	Standard	NM_020975	NM_020975	NA	Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.169C>T	10.37:g.43596002C>T	ENSP00000347942:p.Arg57Trp	NA	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	37	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.154086	0.38021	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;D	0.81908	-1.42;-1.55	5.51	5.51	0.81932	.	0.511992	0.21682	N	0.070717	D	0.86619	0.5976	L	0.55481	1.735	0.30522	N	0.768312	D;D	0.89917	0.999;1.0	P;P	0.59288	0.72;0.855	D	0.85478	0.1177	10	0.87932	D	0	.	12.3445	0.55114	0.2805:0.7195:0.0:0.0	.	57;57	P07949;P07949-2	RET_HUMAN;.	W	57	ENSP00000347942:R57W;ENSP00000344798:R57W	ENSP00000344798:R57W	R	+	1	2	RET	42916008	0.742000	0.28228	0.049000	0.19019	0.003000	0.03518	1.347000	0.33975	2.605000	0.88082	0.655000	0.94253	CGG	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047694.2		+	ENST00000355710.3	Missense_Mutation	SNP	10 : 43596002 - 43596002 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	347	58
OR4K1	79544	broad.mit.edu	37	14	20404104	20404104	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20404104C>A	ENST00000285600.4	+	1	338	c.279C>A	c.(277-279)tcC>tcA	p.S93S		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AGACTATCTCCTTTGAGGGTT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	158	156			NA	NA	14		NA											NA				20404104		2203	4300	6503	SO:0001819	synonymous_variant				CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249	79544	79544		GPCR / Class A : Olfactory receptors	14726	protein-coding gene	gene with protein product					NA		Standard		NM_001004063	NA	Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.279C>A	14.37:g.20404104C>A		NA	B9EKV9|Q8NGD6|Q96R73	37	CCDS32025.1																																																																																			OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409881.1		+	ENST00000285600.4	Silent	SNP	14 : 20404104 - 20404104 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	956	113
EYS	346007	broad.mit.edu	37	6	66205048	66205048	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:66205048C>T	ENST00000393380.2	-	4	793	c.256G>A	c.(256-258)Gat>Aat	p.D86N	EYS_ENST00000503581.1_Missense_Mutation_p.D86N|EYS_ENST00000370621.3_Missense_Mutation_p.D86N|EYS_ENST00000370616.2_Missense_Mutation_p.D86N|EYS_ENST00000370618.3_Missense_Mutation_p.D86N|EYS_ENST00000342421.5_Missense_Mutation_p.D86N	NM_001142801.1	NP_001136273.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	86					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ACAAGGATATCTCCTAATTGA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	82	81			NA	NA	6		NA											NA				66205048		2203	4300	6503	SO:0001583	missense				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107	346007	346007			21555	protein-coding gene	gene with protein product		612424	chromosome 6 open reading frame 180, EGF-like-domain, multiple 11, retinitis pigmentosa 25 (autosomal recessive), EGF-like-domain, multiple 10, chromosome 6 open reading frame 178, chromosome 6 open reading frame 179	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179	NA	18836446, 18976725	Standard	XM_294050	NM_001142800	NA	Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000393380.2:c.256G>A	6.37:g.66205048C>T	ENSP00000377042:p.Asp86Asn	NA	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	37	CCDS47446.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.043179	0.55003	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.91180	-2.14;-2.13;-2.13;-2.8;-2.77;-2.77	4.92	3.1	0.35709	.	.	.	.	.	T	0.82107	0.4965	N	0.24115	0.695	0.23381	N	0.997799	D;D;D	0.65815	0.971;0.995;0.991	P;P;P	0.59288	0.805;0.855;0.813	T	0.73487	-0.3967	9	0.30078	T	0.28	.	7.7935	0.29133	0.0:0.8008:0.0:0.1992	.	86;86;86	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	N	86	ENSP00000424243:D86N;ENSP00000359655:D86N;ENSP00000359650:D86N;ENSP00000377042:D86N;ENSP00000341818:D86N;ENSP00000359652:D86N	ENSP00000341818:D86N	D	-	1	0	EYS	66261769	1.000000	0.71417	0.312000	0.25196	0.448000	0.32197	3.507000	0.53371	0.555000	0.29079	0.591000	0.81541	GAT	EYS-006	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041109.2		-	ENST00000393380.2	Missense_Mutation	SNP	6 : 66205048 - 66205048 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	550	82
GOLGB1	2804	broad.mit.edu	37	3	121417334	121417334	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121417334G>A	ENST00000393667.3	-	13	2146	c.2036C>T	c.(2035-2037)gCt>gTt	p.A679V	GOLGB1_ENST00000340645.5_Missense_Mutation_p.A674V	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	674					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ATCTGGTACAGCAGAAAGGGA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	80	79			NA	NA	3		NA											NA				121417334		2203	4299	6502	SO:0001583	missense			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230	2804	2804			4429	protein-coding gene	gene with protein product	macrogolgin, golgi integral membrane protein 1	602500	golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1, golgin B1, golgi integral membrane protein		NA	7691276, 15004235	Standard	NM_004487	NM_001256486	NA	Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000393667.3:c.2036C>T	3.37:g.121417334G>A	ENSP00000377275:p.Ala679Val	NA	D3DN92|Q14398	37	CCDS58847.1	.	.	.	.	.	.	.	.	.	.	G	6.489	0.458457	0.12342	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235	T;T;T	0.23552	2.49;2.49;1.9	4.36	-0.732	0.11147	.	0.415295	0.22857	N	0.054782	T	0.14485	0.0350	L	0.38838	1.175	0.09310	N	1	B;B;B;B;B	0.10296	0.0;0.003;0.0;0.001;0.0	B;B;B;B;B	0.13407	0.002;0.009;0.002;0.007;0.002	T	0.13872	-1.0493	10	0.31617	T	0.26	.	3.3697	0.07216	0.2961:0.0:0.3445:0.3594	.	599;638;679;679;674	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	V	674;679;638;486	ENSP00000341848:A674V;ENSP00000377275:A679V;ENSP00000418231:A638V	ENSP00000341848:A674V	A	-	2	0	GOLGB1	122900024	0.000000	0.05858	0.001000	0.08648	0.842000	0.47809	0.123000	0.15708	-0.039000	0.13602	0.655000	0.94253	GCT	GOLGB1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355160.1		-	ENST00000393667.3	Missense_Mutation	SNP	3 : 121417334 - 121417334 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	428	36
CUX1	1523	broad.mit.edu	37	7	101877361	101877361	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101877361G>T	ENST00000560541.1	+	14	1843				CUX1_ENST00000547394.2_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.G1099W|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.G997W|CUX1_ENST00000546411.2_Missense_Mutation_p.G1053W|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.G1155W|CUX1_ENST00000549414.2_Missense_Mutation_p.G1133W|CUX1_ENST00000360264.3_Missense_Mutation_p.G1166W			P39880	CUX1_HUMAN	cut-like homeobox 1	NA					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GACCATCTTAGGGCTCACCCA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	106	107			NA	NA	7		NA											NA				101877361		2203	4300	6503	SO:0001627	intron_variant			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923	1523	1523		Homeoboxes / CUT class	2557	protein-coding gene	gene with protein product	golgi integral membrane protein 6	116896	cut (Drosophila)-like 1 (CCAAT displacement protein), cut-like 1, CCAAT displacement protein (Drosophila)	CUTL1	NA	8468066, 9799793, 15004235	Standard	NM_001913	NM_001202543	NA	Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000560541.1:c.1843+38478G>T	7.37:g.101877361G>T		NA	Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	37		.	.	.	.	.	.	.	.	.	.	G	21.9	4.216979	0.79352	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.66099	-0.16;-0.16;-0.18;-0.19;-0.18;-0.18	5.32	4.43	0.53597	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.81173	0.4767	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.982	D	0.84739	0.0750	10	0.87932	D	0	-23.4085	14.2405	0.65954	0.0727:0.0:0.9273:0.0	.	1155;1166	P39880;P39880-3	CUX1_HUMAN;.	W	1166;1155;1133;1099;1053;997	ENSP00000353401:G1166W;ENSP00000292535:G1155W;ENSP00000446630:G1133W;ENSP00000447373:G1099W;ENSP00000450125:G1053W;ENSP00000451558:G997W	ENSP00000292535:G1155W	G	+	1	0	CUX1	101664081	1.000000	0.71417	0.932000	0.37286	0.997000	0.91878	7.974000	0.88039	1.215000	0.43411	0.655000	0.94253	GGG	CUX1-019	KNOWN	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000418419.1		+	ENST00000560541.1	Intron	SNP	7 : 101877361 - 101877361 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	63
CLPTM1	1209	broad.mit.edu	37	19	45489787	45489787	+	Silent	SNP	C	C	T	rs11541460		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45489787C>T	ENST00000541297.2	+	7	1170	c.705C>T	c.(703-705)gaC>gaT	p.D235D	CLPTM1_ENST00000546079.1_Silent_p.D147D|CLPTM1_ENST00000589158.1_3'UTR|CLPTM1_ENST00000337392.5_Silent_p.D249D			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	249					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TCGTGGACGACCACACGCCGT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	118	130			NA	NA	19		NA											NA				45489787		2203	4300	6503	SO:0001819	synonymous_variant			AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853	1209	1209			2087	protein-coding gene	gene with protein product		604783			NA	9828125	Standard	NM_001294	NM_001294	NA	Approved		uc002pai.3	O96005		ENST00000541297.2:c.705C>T	19.37:g.45489787C>T		NA	Q53ET6|Q9BSS5	37																																																																																				CLPTM1-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000453266.1		+	ENST00000541297.2	Silent	SNP	19 : 45489787 - 45489787 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	476	77
SH3PXD2A	9644	broad.mit.edu	37	10	105363480	105363480	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105363480C>T	ENST00000369774.4	-	15	1771	c.1495G>A	c.(1495-1497)Gca>Aca	p.A499T	SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.A471T|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.A334T|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.A366T			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	499	SH3 3.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		ATGTATGATGCGGGGGCCCAG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	52	53			NA	NA	10		NA											NA				105363480		2203	4295	6498	SO:0001583	missense			AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957	9644	9644			23664	protein-coding gene	gene with protein product	five SH3 domains		SH3 multiple domains 1	SH3MD1	NA	9687503	Standard	NM_014631	XM_005270297	NA	Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.1495G>A	10.37:g.105363480C>T	ENSP00000358789:p.Ala499Thr	NA	D3DR98|O43302|Q5TCZ2|Q5TDQ8	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.86|17.86	3.493212|3.493212	0.64186|0.64186	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130|ENST00000420222	T;T;T;T|.	0.52057|.	0.68;0.68;0.68;0.68|.	5.57|5.57	5.57|5.57	0.84162|0.84162	Src homology-3 domain (4);|.	0.205803|.	0.51477|.	D|.	0.000089|.	T|T	0.71995|0.71995	0.3406|0.3406	M|M	0.67397|0.67397	2.05|2.05	0.39466|0.39466	D|D	0.967659|0.967659	P;D;D;D|.	0.65815|.	0.941;0.995;0.995;0.994|.	P;D;D;P|.	0.65573|.	0.577;0.936;0.913;0.861|.	T|T	0.72374|0.72374	-0.4313|-0.4313	10|5	0.34782|.	T|.	0.22|.	-19.4094|-19.4094	14.3946|14.3946	0.67003|0.67003	0.1477:0.8523:0.0:0.0|0.1477:0.8523:0.0:0.0	.|.	499;348;344;471|.	Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3|.	SPD2A_HUMAN;.;.;.|.	T|H	499;471;306;414;366;334|425	ENSP00000358789:A499T;ENSP00000348215:A471T;ENSP00000443663:A366T;ENSP00000441514:A334T|.	ENSP00000318135:A306T|.	A|R	-|-	1|2	0|0	SH3PXD2A|SH3PXD2A	105353470|105353470	0.994000|0.994000	0.37717|0.37717	0.175000|0.175000	0.22980|0.22980	0.919000|0.919000	0.55068|0.55068	3.182000|3.182000	0.50910|0.50910	2.619000|2.619000	0.88677|0.88677	0.561000|0.561000	0.74099|0.74099	GCA|CGC	SH3PXD2A-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000050178.1		-	ENST00000369774.4	Missense_Mutation	SNP	10 : 105363480 - 105363480 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	388	39
GREB1	9687	broad.mit.edu	37	2	11777873	11777873	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11777873C>T	ENST00000381486.2	+	31	5678	c.5378C>T	c.(5377-5379)gCc>gTc	p.A1793V	GREB1_ENST00000234142.5_Missense_Mutation_p.A1793V|GREB1_ENST00000396123.1_Missense_Mutation_p.A791V	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1793						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GTCGTGCCGGCCCAGTACATC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(39;850 945 2785 23371 33093)							NA				0													54	61	58			NA	NA	2		NA											NA				11777873		2110	4213	6323	SO:0001583	missense				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208	9687	9687			24885	protein-coding gene	gene with protein product	gene regulated by estrogen in breast cancer	611736			NA	11103799	Standard	NM_014668	NM_014668	NA	Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.5378C>T	2.37:g.11777873C>T	ENSP00000370896:p.Ala1793Val	NA	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	8.890	0.953873	0.18431	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.22134	3.29;3.29;1.97	4.75	3.87	0.44632	.	0.253826	0.39210	N	0.001434	T	0.14700	0.0355	N	0.25647	0.755	0.37633	D	0.921731	B	0.06786	0.001	B	0.12837	0.008	T	0.09552	-1.0669	10	0.27785	T	0.31	-18.3019	12.3092	0.54920	0.0:0.9176:0.0:0.0823	.	1793	Q4ZG55	GREB1_HUMAN	V	1793;1793;791	ENSP00000370896:A1793V;ENSP00000234142:A1793V;ENSP00000379429:A791V	ENSP00000234142:A1793V	A	+	2	0	GREB1	11695324	1.000000	0.71417	0.991000	0.47740	0.830000	0.47004	4.544000	0.60691	2.186000	0.69663	0.557000	0.71058	GCC	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280490.1		+	ENST00000381486.2	Missense_Mutation	SNP	2 : 11777873 - 11777873 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	476	67
ATAD5	79915	broad.mit.edu	37	17	29196541	29196541	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29196541C>T	ENST00000321990.4	+	14	3862	c.3484C>T	c.(3484-3486)Cgc>Tgc	p.R1162C		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1162					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CTCTTCCCAGCGCAGTGGTAG	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	119	120			NA	NA	17		NA											NA				29196541		2203	4300	6503	SO:0001583	missense				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208	79915	79915		ATPases / AAA-type	25752	protein-coding gene	gene with protein product	enhanced level of genomic instability 1 homolog (S. cerevisiae)	609534	chromosome 17 open reading frame 41	C17orf41	NA	15983387, 11468690, 19755857	Standard	NM_024857	NM_024857	NA	Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.3484C>T	17.37:g.29196541C>T	ENSP00000313171:p.Arg1162Cys	NA	Q05DH0|Q69YR6|Q9H9I1	37	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004580	0.54254	.	.	ENSG00000176208	ENST00000321990	T	0.19806	2.12	5.62	5.62	0.85841	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.169939	0.51477	D	0.000090	T	0.61299	0.2336	H	0.94542	3.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72693	-0.4216	10	0.87932	D	0	.	19.6689	0.95903	0.0:1.0:0.0:0.0	.	1162;1162	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	C	1162	ENSP00000313171:R1162C	ENSP00000313171:R1162C	R	+	1	0	ATAD5	26220667	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	5.581000	0.67471	2.642000	0.89623	0.655000	0.94253	CGC	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256206.2		+	ENST00000321990.4	Missense_Mutation	SNP	17 : 29196541 - 29196541 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	478	93
STEAP3	55240	broad.mit.edu	37	2	120003362	120003362	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120003362C>T	ENST00000354888.5	+	3	794	c.290C>T	c.(289-291)tCt>tTt	p.S97F	STEAP3_ENST00000393110.2_Missense_Mutation_p.S107F|STEAP3_ENST00000450943.2_Missense_Mutation_p.S97F|STEAP3_ENST00000409811.1_Missense_Mutation_p.S97F|STEAP3_ENST00000393106.2_Missense_Mutation_p.S97F|STEAP3_ENST00000393107.2_Missense_Mutation_p.S97F|STEAP3_ENST00000425223.2_Missense_Mutation_p.S97F|STEAP3_ENST00000393108.2_Missense_Mutation_p.S97F|STEAP3-AS1_ENST00000454260.1_RNA	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	97					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GAGCACTACTCTTCACTGTGC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	70	74			NA	NA	2		NA											NA				120003362		2203	4300	6503	SO:0001583	missense			AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107	55240	55240			24592	protein-coding gene	gene with protein product		609671			NA	12606722	Standard	NM_018234	NM_182915	NA	Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.290C>T	2.37:g.120003362C>T	ENSP00000346961:p.Ser97Phe	NA	A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	37	CCDS2125.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.077011	0.55753	.	.	ENSG00000115107	ENST00000393108;ENST00000354888;ENST00000450943;ENST00000393110;ENST00000393106;ENST00000409811;ENST00000393107;ENST00000425223	T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	4.96	4.96	0.65561	NAD(P)-binding domain (1);	0.134765	0.51477	D	0.000091	T	0.62024	0.2394	M	0.78285	2.405	0.43118	D	0.994833	D;P;B	0.63880	0.993;0.952;0.296	D;P;B	0.64506	0.926;0.766;0.13	T	0.64373	-0.6423	9	.	.	.	-31.4585	13.1501	0.59484	0.0:0.8398:0.1602:0.0	.	97;107;97	B8ZZX6;Q658P3-2;Q658P3	.;.;STEA3_HUMAN	F	97;97;97;107;97;97;97;97	ENSP00000376820:S97F;ENSP00000346961:S97F;ENSP00000396873:S97F;ENSP00000376822:S107F;ENSP00000376818:S97F;ENSP00000386510:S97F;ENSP00000376819:S97F;ENSP00000396214:S97F	.	S	+	2	0	STEAP3	119719832	0.999000	0.42202	0.986000	0.45419	0.631000	0.37964	3.669000	0.54561	2.576000	0.86940	0.655000	0.94253	TCT	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254193.1		+	ENST00000354888.5	Missense_Mutation	SNP	2 : 120003362 - 120003362 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	220	64
COL7A1	1294	broad.mit.edu	37	3	48612815	48612815	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48612815C>T	ENST00000328333.8	-	73	6244	c.6137G>A	c.(6136-6138)gGc>gAc	p.G2046D	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2014D	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2046	Triple-helical region.		G -> V (in DDEB).		cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCAGCCCTGCCTGGGAGCCC	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM992849	COL7A1	M							18	20	19			NA	NA	3		NA											NA				48612815		2200	4294	6494	SO:0001583	missense			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270	1294	1294		Collagens, Fibronectin type III domain containing	2214	protein-coding gene	gene with protein product	collagen VII, alpha-1 polypeptide, LC collagen	120120	epidermolysis bullosa, dystrophic, dominant and recessive	EBDCT, EBD1, EBR1	NA	1871109	Standard	NM_000094	NM_000094	NA	Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.6137G>A	3.37:g.48612815C>T	ENSP00000332371:p.Gly2046Asp	NA	Q14054|Q16507	37	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.122614	0.56613	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.99353	-5.77;-5.77	5.22	5.22	0.72569	.	0.433234	0.17763	N	0.162822	D	0.99736	0.9896	H	0.99011	4.4	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.97496	1.0057	10	0.72032	D	0.01	.	18.7955	0.91993	0.0:1.0:0.0:0.0	.	2046	Q02388	CO7A1_HUMAN	D	2046;2014	ENSP00000332371:G2046D;ENSP00000412569:G2014D	ENSP00000332371:G2046D	G	-	2	0	COL7A1	48587819	1.000000	0.71417	0.977000	0.42913	0.921000	0.55340	7.570000	0.82390	2.426000	0.82243	0.563000	0.77884	GGC	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257519.1		-	ENST00000328333.8	Missense_Mutation	SNP	3 : 48612815 - 48612815 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	295	52
MASP1	5648	broad.mit.edu	37	3	187009414	187009414	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:187009414A>G	ENST00000392472.2	-	1	350		c.e1+1		MASP1_ENST00000495249.1_Intron|MASP1_ENST00000296280.6_Splice_Site|MASP1_ENST00000392470.2_Splice_Site|MASP1_ENST00000169293.6_Splice_Site|MASP1_ENST00000337774.5_Splice_Site			P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	NA					complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CCTGGCACGTACCTCATTTTC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	111	121			NA	NA	3		NA											NA				187009414		2203	4300	6503	SO:0001630	splice_region_variant			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241	5648	5648		Serine peptidases / Serine peptidases	6901	protein-coding gene	gene with protein product		600521	mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)	CRARF, PRSS5	NA	8018603, 8240317	Standard	NM_001879	NR_033519	NA	Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000392472.2:c.101+1T>C	3.37:g.187009414A>G		NA	A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	37		.	.	.	.	.	.	.	.	.	.	A	13.83	2.353985	0.41700	.	.	ENSG00000127241	ENST00000337774;ENST00000296280;ENST00000169293;ENST00000392475	.	.	.	5.86	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2095	0.48790	0.8464:0.1536:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MASP1	188492108	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	5.105000	0.64591	1.020000	0.39573	0.460000	0.39030	.	MASP1-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000344266.2	Intron	-	ENST00000392472.2	Splice_Site	SNP	3 : 187009414 - 187009414 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	439	85
PAN3	255967	broad.mit.edu	37	13	28844994	28844994	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28844994G>T	ENST00000399613.1	+	12	1412	c.1349G>T	c.(1348-1350)gGc>gTc	p.G450V	PAN3_ENST00000282391.5_Missense_Mutation_p.G338V|PAN3_ENST00000380958.3_Missense_Mutation_p.G650V			Q58A45	PAN3_HUMAN	PAN3 poly(A) specific ribonuclease subunit	650	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		CTGATAACTGGCAAAACAAGG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	152	155			NA	NA	13		NA											NA				28844994		2203	4300	6503	SO:0001583	missense			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520	255967	255967			29991	protein-coding gene	gene with protein product			PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)		NA	14583602	Standard	NM_175854	NM_175854	NA	Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000399613.1:c.1349G>T	13.37:g.28844994G>T	ENSP00000382522:p.Gly450Val	NA	A0N0X1|A1A4Y8|A1A4Y9|B1ALF1|B7Z3W7|Q0D2P2|Q5HYG6|Q5T515|Q5T516|Q5TBA0|Q76E13|Q8NBA6	37		.	.	.	.	.	.	.	.	.	.	G	27.2	4.809788	0.90707	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.42131	0.98;0.98;0.98	5.42	5.42	0.78866	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043637	0.85682	D	0.000000	T	0.64897	0.2640	M	0.77103	2.36	0.80722	D	1	D;D;P;D	0.63880	0.975;0.968;0.904;0.993	P;P;P;P	0.61533	0.848;0.732;0.463;0.89	T	0.65681	-0.6109	10	0.49607	T	0.09	-7.5491	19.5822	0.95471	0.0:0.0:1.0:0.0	.	650;650;338;596	Q58A45-4;Q58A45;Q58A45-2;Q58A45-3	.;PAN3_HUMAN;.;.	V	650;450;338	ENSP00000370345:G650V;ENSP00000382522:G450V;ENSP00000282391:G338V	ENSP00000282391:G338V	G	+	2	0	PAN3	27742994	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.813000	0.99286	2.704000	0.92352	0.563000	0.77884	GGC	PAN3-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000044317.3		+	ENST00000399613.1	Missense_Mutation	SNP	13 : 28844994 - 28844994 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	814	100
ARSB	411	broad.mit.edu	37	5	78260339	78260339	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78260339C>T	ENST00000264914.4	-	3	1126	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	ARSB_ENST00000565165.1_Missense_Mutation_p.R197Q|ARSB_ENST00000396151.3_Missense_Mutation_p.R197Q	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	197					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		TTCGCCATCTCGAAAATCAAG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(169;563 1968 25780 26156 52266)							NA				0													97	87	90			NA	NA	5		NA											NA				78260339		2203	4300	6503	SO:0001583	missense			M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	411	411	3.1.6.1	Arylsulfatase family	714	protein-coding gene	gene with protein product		611542			NA	2303452	Standard	NM_000046	NM_000046	NA	Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.590G>A	5.37:g.78260339C>T	ENSP00000264914:p.Arg197Gln	NA	B2RC20|Q9UDI9	37	CCDS4043.1	.	.	.	.	.	.	.	.	.	.	C	32	5.176424	0.94846	.	.	ENSG00000113273	ENST00000264914;ENST00000396151	D;D	0.96587	-4.06;-4.06	5.36	5.36	0.76844	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.065278	0.64402	D	0.000008	D	0.97501	0.9182	L	0.59436	1.845	0.58432	D	0.999996	D;D	0.89917	1.0;0.997	D;P	0.71414	0.973;0.835	D	0.97063	0.9772	10	0.41790	T	0.15	.	19.4551	0.94884	0.0:1.0:0.0:0.0	.	197;197	Q8N322;P15848	.;ARSB_HUMAN	Q	197	ENSP00000264914:R197Q;ENSP00000379455:R197Q	ENSP00000264914:R197Q	R	-	2	0	ARSB	78296095	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.177000	0.77650	2.662000	0.90505	0.650000	0.86243	CGA	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226932.2		-	ENST00000264914.4	Missense_Mutation	SNP	5 : 78260339 - 78260339 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	316	66
CCP110	9738	broad.mit.edu	37	16	19547923	19547923	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19547923G>A	ENST00000396212.2	+	5	1368	c.932G>A	c.(931-933)aGc>aAc	p.S311N	CCP110_ENST00000396208.2_Missense_Mutation_p.S311N|CCP110_ENST00000381396.5_Missense_Mutation_p.S311N	NM_014711.4	NP_055526	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	311					centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CAAGCAAGCAGCATGAGTATG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	66	67			NA	NA	16		NA											NA				19547923		2197	4300	6497	SO:0001583	missense			AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540	9738	9738			24342	protein-coding gene	gene with protein product		609544			NA	9455477, 12361598, 16760425	Standard	NM_014711	NM_014711	NA	Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000396212.2:c.932G>A	16.37:g.19547923G>A	ENSP00000379515:p.Ser311Asn	NA	B7WP23|O43335|Q68DV9|Q8NE13	37	CCDS10579.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.720579	0.30503	.	.	ENSG00000103540	ENST00000396212;ENST00000381396;ENST00000396208	T;T;T	0.20200	2.09;2.09;2.09	6.07	4.12	0.48240	.	0.159898	0.56097	N	0.000024	T	0.16300	0.0392	L	0.40543	1.245	0.09310	N	1	B;B	0.12013	0.003;0.005	B;B	0.14578	0.011;0.011	T	0.17289	-1.0374	10	0.37606	T	0.19	-0.1971	7.8014	0.29176	0.1759:0.0:0.7005:0.1235	.	311;311	O43303;O43303-2	CP110_HUMAN;.	N	311	ENSP00000379515:S311N;ENSP00000370803:S311N;ENSP00000379511:S311N	ENSP00000370803:S311N	S	+	2	0	CCP110	19455424	0.936000	0.31750	0.764000	0.31436	0.942000	0.58702	1.432000	0.34936	0.899000	0.36444	0.655000	0.94253	AGC	CCP110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254283.2		+	ENST00000396212.2	Missense_Mutation	SNP	16 : 19547923 - 19547923 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	458	23
ZNF808	388558	broad.mit.edu	37	19	53056883	53056883	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53056883A>C	ENST00000359798.4	+	5	894	c.714A>C	c.(712-714)aaA>aaC	p.K238N		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AGAGTGGCAAAGCCTTTAATT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	147	146			NA	NA	19		NA											NA				53056883		2203	4300	6503	SO:0001583	missense			CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482	388558	388558		Zinc fingers, C2H2-type, -	33230	protein-coding gene	gene with protein product					NA		Standard	NM_001039886	NM_001039886	NA	Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.714A>C	19.37:g.53056883A>C	ENSP00000352846:p.Lys238Asn	NA	Q68CN7	37	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	12.11	1.839190	0.32513	.	.	ENSG00000198482	ENST00000359798	T	0.22134	1.97	1.57	-2.54	0.06307	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47078	0.1426	M	0.92367	3.3	0.09310	N	1	D	0.71674	0.998	D	0.67231	0.95	T	0.33803	-0.9854	9	0.66056	D	0.02	.	7.1187	0.25431	0.5911:0.0:0.4089:0.0	.	238	Q8N4W9	ZN808_HUMAN	N	238	ENSP00000352846:K238N	ENSP00000352846:K238N	K	+	3	2	ZNF808	57748695	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.148000	0.16224	-0.600000	0.05790	0.254000	0.18369	AAA	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350447.3		+	ENST00000359798.4	Missense_Mutation	SNP	19 : 53056883 - 53056883 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	888	34
USP24	23358	broad.mit.edu	37	1	55589226	55589226	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55589226C>T	ENST00000294383.6	-	36	4169	c.4170G>A	c.(4168-4170)gcG>gcA	p.A1390A	USP24_ENST00000407756.1_Silent_p.A1230A	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1390					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.A1390A(1)|p.A1307A(1)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CACAGATTCCCGCATGCAGGG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - coding silent(2)	lung(2)						T		0,3840		0,0,1920	65	63	64		4170	-9.6	0.5	1		64	1,8259		0,1,4129	no	coding-synonymous	USP24	NM_015306.2		0,1,6049	TT,TC,CC	NA	0.0121,0.0,0.0083		1390/2621	55589226	1,12099	1920	4130	6050	SO:0001819	synonymous_variant			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402	23358	23358		Ubiquitin-specific peptidases	12623	protein-coding gene	gene with protein product		610569	ubiquitin specific protease 24		NA	12838346	Standard		NM_015306	NA	Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.4170G>A	1.37:g.55589226C>T		NA	Q6ZSY2|Q8N2Y4|Q9NXD1	37	CCDS44154.2																																																																																			USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022275.2		-	ENST00000294383.6	Silent	SNP	1 : 55589226 - 55589226 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	60	14
PDE4D	5144	broad.mit.edu	37	5	58511691	58511691	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:58511691G>A	ENST00000340635.6	-	2	734	c.559C>T	c.(559-561)Cga>Tga	p.R187*	PDE4D_ENST00000405755.2_Nonsense_Mutation_p.R65*|PDE4D_ENST00000360047.5_Nonsense_Mutation_p.R51*|PDE4D_ENST00000507116.1_Nonsense_Mutation_p.R123*|PDE4D_ENST00000503947.1_5'UTR|PDE4D_ENST00000546160.1_Nonsense_Mutation_p.R126*|PDE4D_ENST00000503258.1_Nonsense_Mutation_p.R57*|PDE4D_ENST00000502484.2_Nonsense_Mutation_p.R126*|PDE4D_ENST00000502575.1_Nonsense_Mutation_p.R123*	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	187					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	GACTCCCGTCGTTGACTGTGG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	102	103			NA	NA	5		NA											NA				58511691		1910	4125	6035	SO:0001587	stop_gained				CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				5144	5144	3.1.4.17	Phosphodiesterases	8783	protein-coding gene	gene with protein product	phosphodiesterase E3 dunce homolog (Drosophila)	600129	phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)	DPDE3	NA		Standard		NM_006203	NA	Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.559C>T	5.37:g.58511691G>A	ENSP00000345502:p.Arg187*	NA	O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	37	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	G	44	10.868730	0.99481	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000502575	.	.	.	4.66	3.8	0.43715	.	0.284954	0.32548	N	0.005949	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.142	0.31089	0.0804:0.0:0.7639:0.1557	.	.	.	.	X	187;56;51;123;57;65;126;126;123	.	ENSP00000308485:R123X	R	-	1	2	PDE4D	58547448	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.286000	0.72665	1.090000	0.41315	0.591000	0.81541	CGA	PDE4D-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367940.3		-	ENST00000340635.6	Nonsense_Mutation	SNP	5 : 58511691 - 58511691 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	282	66
DCHS1	8642	broad.mit.edu	37	11	6643477	6643477	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6643477C>T	ENST00000299441.3	-	21	9841	c.9430G>A	c.(9430-9432)Gca>Aca	p.A3144T	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3144					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCGCACCTGCCACACATGGC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	15	15			NA	NA	11		NA											NA				6643477		2189	4273	6462	SO:0001583	missense			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341	8642	8642		Cadherins / Cadherin-related	13681	protein-coding gene	gene with protein product	cadherin-related family member 6	603057	protocadherin 16, dachsous 1 (Drosophila)	CDH25, PCDH16	NA	9199196	Standard	NM_003737	XM_005253207	NA	Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.9430G>A	11.37:g.6643477C>T	ENSP00000299441:p.Ala3144Thr	NA	O15098	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.817471	0.50633	.	.	ENSG00000166341	ENST00000299441	T	0.53206	0.63	4.71	4.71	0.59529	.	0.000000	0.40302	N	0.001140	T	0.34571	0.0902	N	0.17474	0.49	0.42164	D	0.991615	P	0.47409	0.895	P	0.44518	0.452	T	0.08868	-1.0701	10	0.12103	T	0.63	.	16.3911	0.83541	0.0:1.0:0.0:0.0	.	3144	Q96JQ0	PCD16_HUMAN	T	3144	ENSP00000299441:A3144T	ENSP00000299441:A3144T	A	-	1	0	DCHS1	6600053	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.588000	0.82629	2.422000	0.82143	0.313000	0.20887	GCA	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257258.1		-	ENST00000299441.3	Missense_Mutation	SNP	11 : 6643477 - 6643477 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	65	12
STXBP5L	9515	broad.mit.edu	37	3	120941850	120941850	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120941850C>T	ENST00000273666.6	+	11	1228	c.957C>T	c.(955-957)agC>agT	p.S319S	STXBP5L_ENST00000497029.1_Splice_Site_p.S319S|STXBP5L_ENST00000492541.1_Splice_Site_p.S319S|STXBP5L_ENST00000472879.1_Splice_Site_p.S319S|STXBP5L_ENST00000471454.1_Splice_Site_p.S319S	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	319					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TCCTATGTAGCGAACCATTCA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	124	127			NA	NA	3		NA											NA				120941850		1861	4094	5955	SO:0001630	splice_region_variant			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087	9515	9515		WD repeat domain containing	30757	protein-coding gene	gene with protein product		609381			NA	10231032, 14767561	Standard		NM_014980	NA	Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.957-1C>T	3.37:g.120941850C>T		NA	Q4G1B4|Q6PIC3	37	CCDS43137.1																																																																																			STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355256.3	Silent	+	ENST00000273666.6	Splice_Site	SNP	3 : 120941850 - 120941850 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	533	69
PDYN	5173	broad.mit.edu	37	20	1961244	1961244	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1961244C>T	ENST00000217305.2	-	4	715	c.490G>A	c.(490-492)Gct>Act	p.A164T	PDYN_ENST00000540134.1_Missense_Mutation_p.A164T|PDYN_ENST00000539905.1_Missense_Mutation_p.A164T|RP4-684O24.5_ENST00000446562.1_RNA	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	164					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	p.A164P(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCTCCTCAGCGAGATAGAGT	0.597		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)						C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	107	104	105		490,490,490,490,490	-8.3	0	20		105	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	PDYN	NM_001190892.1,NM_001190898.2,NM_001190899.2,NM_001190900.1,NM_024411.4	58,58,58,58,58	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	benign,benign,benign,benign,benign	164/255,164/255,164/255,164/255,164/255	1961244	1,13005	2203	4300	6503	SO:0001583	missense				CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327	5173	5173		Endogenous ligands	8820	protein-coding gene	gene with protein product	preproenkephalin B, rimorphin, beta-neoendorphin, dynorphin, leu-enkephalin, leumorphin, neoendorphin-dynorphin-enkephalin prepropeptide	131340	spinocerebellar ataxia 23	SCA23	NA	21035104	Standard		NM_001190892	NA	Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.490G>A	20.37:g.1961244C>T	ENSP00000217305:p.Ala164Thr	NA	A8K0Q3	37	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	C	6.449	0.451015	0.12223	2.27E-4	0.0	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	T;T;T	0.80214	-1.35;-1.35;-1.35	4.71	-8.27	0.01017	.	2.758650	0.00899	N	0.002322	T	0.60038	0.2238	N	0.14661	0.345	0.09310	N	1	B	0.17038	0.02	B	0.10450	0.005	T	0.54543	-0.8278	10	0.10636	T	0.68	0.0995	8.2662	0.31815	0.0:0.2269:0.3021:0.4711	.	164	P01213	PDYN_HUMAN	T	164	ENSP00000440185:A164T;ENSP00000442259:A164T;ENSP00000217305:A164T	ENSP00000217305:A164T	A	-	1	0	PDYN	1909244	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.574000	0.05868	-1.675000	0.01459	-1.579000	0.00862	GCT	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077569.2		-	ENST00000217305.2	Missense_Mutation	SNP	20 : 1961244 - 1961244 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	597	92
EIF4G3	8672	broad.mit.edu	37	1	21268661	21268661	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21268661G>A	ENST00000602326.1	-	12	1419	c.836C>T	c.(835-837)tCt>tTt	p.S279F	EIF4G3_ENST00000374927.4_Missense_Mutation_p.S273F|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000356916.3_Missense_Mutation_p.S284F|EIF4G3_ENST00000374937.3_Missense_Mutation_p.S279F|EIF4G3_ENST00000400422.1_Missense_Mutation_p.S273F|EIF4G3_ENST00000264211.8_Missense_Mutation_p.S273F	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	273					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TCGAGCAACAGAAGAAACAGT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	126	130			NA	NA	1		NA											NA				21268661		2203	4300	6503	SO:0001583	missense			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151	8672	8672			3298	protein-coding gene	gene with protein product		603929			NA	9418880	Standard	NM_003760	NM_001198801	NA	Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000602326.1:c.836C>T	1.37:g.21268661G>A	ENSP00000473510:p.Ser279Phe	NA	Q15597|Q5SWC3|Q8NEN1	37	CCDS55580.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025039	0.35701	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374937;ENST00000356916;ENST00000374927;ENST00000537059	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.96	5.96	0.96718	.	0.226323	0.46442	D	0.000299	T	0.13841	0.0335	N	0.08118	0	0.26073	N	0.981196	P;P;P;B;B	0.48016	0.824;0.608;0.904;0.004;0.162	B;B;P;B;B	0.44811	0.419;0.078;0.461;0.001;0.203	T	0.12066	-1.0562	10	0.59425	D	0.04	-2.8518	11.2797	0.49186	0.0822:0.0:0.9178:0.0	.	273;468;399;279;273	B4DXR2;Q59GJ0;B1AN89;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	F	273;469;273;279;399;273;284	ENSP00000264211:S273F;ENSP00000383274:S273F;ENSP00000364073:S279F;ENSP00000364062:S273F	ENSP00000264211:S273F	S	-	2	0	EIF4G3	21141248	1.000000	0.71417	0.995000	0.50966	0.716000	0.41182	4.328000	0.59253	2.832000	0.97577	0.655000	0.94253	TCT	EIF4G3-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000467634.1		-	ENST00000602326.1	Missense_Mutation	SNP	1 : 21268661 - 21268661 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	569	52
WWP1	11059	broad.mit.edu	37	8	87393071	87393071	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:87393071A>C	ENST00000517970.1	+	4	494	c.187A>C	c.(187-189)Aaa>Caa	p.K63Q	WWP1_ENST00000341922.2_Missense_Mutation_p.K63Q|WWP1_ENST00000349423.2_Intron|WWP1_ENST00000523863.1_3'UTR|WWP1_ENST00000265428.4_Missense_Mutation_p.K63Q	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	63	C2.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TTCTAATCCAAAATGGGATGA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	69	70			NA	NA	8		NA											NA				87393071		2203	4299	6502	SO:0001583	missense			AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124	11059	11059			17004	protein-coding gene	gene with protein product		602307			NA	9169421, 9647693	Standard	NM_007013	NM_007013	NA	Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.187A>C	8.37:g.87393071A>C	ENSP00000427793:p.Lys63Gln	NA	O00307|Q96BP4	37	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.691670	0.48097	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000436619	T;T;T	0.69435	-0.4;-0.4;-0.4	5.69	5.69	0.88448	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.056242	0.64402	D	0.000001	T	0.74997	0.3790	L	0.40543	1.245	0.80722	D	1	D	0.63046	0.992	D	0.71414	0.973	T	0.74805	-0.3540	10	0.42905	T	0.14	.	15.9348	0.79694	1.0:0.0:0.0:0.0	.	63	Q9H0M0	WWP1_HUMAN	Q	63	ENSP00000427793:K63Q;ENSP00000265428:K63Q;ENSP00000340564:K63Q	ENSP00000265428:K63Q	K	+	1	0	WWP1	87462187	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	8.237000	0.89807	2.153000	0.67306	0.482000	0.46254	AAA	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374755.1		+	ENST00000517970.1	Missense_Mutation	SNP	8 : 87393071 - 87393071 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	186	31
AXIN1	8312	broad.mit.edu	37	16	347979	347979	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:347979G>A	ENST00000262320.3	-	6	1898	c.1527C>T	c.(1525-1527)gcC>gcT	p.A509A	AXIN1_ENST00000354866.3_Silent_p.A509A|AXIN1_ENST00000481769.1_5'UTR	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	509	Interaction with RNF111.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GCCCCGAGGCGGCACCCCCCA	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	35	38			NA	NA	16		NA											NA				347979		2198	4297	6495	SO:0001819	synonymous_variant			AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126	8312	8312		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	903	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 49	603816			NA	9230313	Standard		NM_003502	NA	Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1527C>T	16.37:g.347979G>A		NA	Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	37	CCDS10405.1																																																																																			AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000139441.3		-	ENST00000262320.3	Silent	SNP	16 : 347979 - 347979 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	130	26
FOLR1	2348	broad.mit.edu	37	11	71906964	71906964	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71906964G>A	ENST00000393679.1	+	5	953	c.517G>A	c.(517-519)Gct>Act	p.A173T	FOLR1_ENST00000393681.2_Missense_Mutation_p.A173T|FOLR1_ENST00000393676.3_Missense_Mutation_p.A173T|FOLR1_ENST00000312293.4_Missense_Mutation_p.A173T|RP11-807H22.7_ENST00000378140.3_RNA			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	173					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						CGCAGTGGGAGCTGCCTGCCA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	96	97			NA	NA	11		NA											NA				71906964		2200	4293	6493	SO:0001583	missense			J05013	CCDS8211.1	11q13.3-q14.1	2010-04-09			ENSG00000110195	ENSG00000110195	2348	2348			3791	protein-coding gene	gene with protein product		136430		FOLR	NA	1717147	Standard	NM_016725	NM_000802	NA	Approved		uc001osa.2	P15328		ENST00000393679.1:c.517G>A	11.37:g.71906964G>A	ENSP00000377284:p.Ala173Thr	NA	Q53EW2|Q6FGT8|Q6LC90|Q9UCT2	37	CCDS8211.1	.	.	.	.	.	.	.	.	.	.	g	9.244	1.039153	0.19669	.	.	ENSG00000110195	ENST00000312293;ENST00000393681;ENST00000393679;ENST00000393676	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	4.11	2.19	0.27852	Folate receptor-like (1);	0.469100	0.24499	N	0.037984	T	0.67804	0.2932	L	0.41710	1.295	0.20074	N	0.999932	P	0.40578	0.722	P	0.45946	0.498	T	0.54443	-0.8293	10	0.20519	T	0.43	-6.2945	3.6157	0.08077	0.2076:0.0:0.5941:0.1983	.	173	P15328	FOLR1_HUMAN	T	173	ENSP00000308137:A173T;ENSP00000377286:A173T;ENSP00000377284:A173T;ENSP00000377281:A173T	ENSP00000308137:A173T	A	+	1	0	FOLR1	71584612	0.000000	0.05858	0.319000	0.25293	0.014000	0.08584	0.030000	0.13688	0.473000	0.27368	-0.311000	0.09066	GCT	FOLR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396773.1		+	ENST00000393679.1	Missense_Mutation	SNP	11 : 71906964 - 71906964 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	625	96
TTN	7273	broad.mit.edu	37	2	179403534	179403534	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179403534G>A	ENST00000589042.1	-	354	99246	c.99022C>T	c.(99022-99024)Ctt>Ttt	p.L33008F	TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L30440F|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L23943F|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L24068F|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L24135F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L31367F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31367							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATATTGAAAGAATCTCAAGT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	108	110			NA	NA	2		NA											NA				179403534		1878	4107	5985	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.99022C>T	2.37:g.179403534G>A	ENSP00000467141:p.Leu33008Phe	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821590	0.50633	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.72	5.72	0.89469	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.57681	0.2070	L	0.53729	1.69	0.31624	N	0.649877	P;P;P;D	0.54397	0.934;0.934;0.934;0.966	P;P;P;P	0.49637	0.617;0.617;0.617;0.617	T	0.66288	-0.5961	9	0.87932	D	0	.	13.2697	0.60153	0.0:0.0:0.7415:0.2584	.	23943;24068;24135;31367	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	30440;23943;24135;24068;23940	ENSP00000343764:L30440F;ENSP00000434586:L23943F;ENSP00000340554:L24135F;ENSP00000352154:L24068F	ENSP00000340554:L24135F	L	-	1	0	TTN	179111780	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.343000	0.59348	2.878000	0.98634	0.650000	0.86243	CTT	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179403534 - 179403534 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	599	168
USP36	57602	broad.mit.edu	37	17	76803497	76803497	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76803497C>T	ENST00000542802.3	-	14	2072	c.1629G>A	c.(1627-1629)caG>caA	p.Q543Q	USP36_ENST00000449938.2_Silent_p.Q243Q|USP36_ENST00000312010.6_Silent_p.Q543Q			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	NA					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GGGAAAAGTGCTGTGGAGGAG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	61	61			NA	NA	17		NA											NA				76803497		2203	4300	6503	SO:0001819	synonymous_variant			AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483	57602	57602		Ubiquitin-specific peptidases	20062	protein-coding gene	gene with protein product		612543	ubiquitin specific protease 36		NA	12838346	Standard	NM_025090	NM_025090	NA	Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.1629G>A	17.37:g.76803497C>T		NA	Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	37	CCDS32755.1																																																																																			USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437472.3		-	ENST00000542802.3	Silent	SNP	17 : 76803497 - 76803497 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	255	41
ZNF329	79673	broad.mit.edu	37	19	58640736	58640736	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58640736T>C	ENST00000598312.1	-	4	368	c.135A>G	c.(133-135)ggA>ggG	p.G45G	ZNF329_ENST00000358067.4_Silent_p.G45G	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		GCCTCAAGTGTCCCTCCTGGT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	149	153			NA	NA	19		NA											NA				58640736		2203	4300	6503	SO:0001819	synonymous_variant			AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894	79673	79673		Zinc fingers, C2H2-type	14209	protein-coding gene	gene with protein product					NA		Standard	NM_024620	XM_006723381	NA	Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.135A>G	19.37:g.58640736T>C		NA	B3KR32|Q9H9R7	37	CCDS12972.1																																																																																			ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466724.1		-	ENST00000598312.1	Silent	SNP	19 : 58640736 - 58640736 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	741	120
STAT1	6772	broad.mit.edu	37	2	191850364	191850364	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191850364G>T	ENST00000392323.2	-	16	1661	c.1250C>A	c.(1249-1251)gCt>gAt	p.A417D	STAT1_ENST00000392322.3_Missense_Mutation_p.A415D|STAT1_ENST00000361099.3_Missense_Mutation_p.A415D|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.A415D			P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	415					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TCTGGTGCCAGCATTTTTCTG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	150	156			NA	NA	2		NA											NA				191850364		2203	4300	6503	SO:0001583	missense				CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415	6772	6772		SH2 domain containing	11362	protein-coding gene	gene with protein product	transcription factor ISGF-3 components p91/p84	600555	signal transducer and activator of transcription 1, 91kD		NA	7885841	Standard	NM_007315	NM_139266	NA	Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000392323.2:c.1250C>A	2.37:g.191850364G>T	ENSP00000376137:p.Ala417Asp	NA	A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	37		.	.	.	.	.	.	.	.	.	.	G	19.85	3.904513	0.72868	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29	5.11	5.11	0.69529	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.054833	0.64402	D	0.000001	D	0.89722	0.6797	M	0.69248	2.105	0.80722	D	1	P;P	0.44734	0.842;0.622	P;B	0.51615	0.675;0.222	D	0.90598	0.4542	10	0.87932	D	0	-18.3653	12.9372	0.58322	0.0792:0.0:0.9208:0.0	.	415;415	P42224-2;P42224	.;STAT1_HUMAN	D	415;415;415;417	ENSP00000354394:A415D;ENSP00000386244:A415D;ENSP00000376136:A415D;ENSP00000376137:A417D	ENSP00000354394:A415D	A	-	2	0	STAT1	191558609	1.000000	0.71417	0.998000	0.56505	0.778000	0.44026	6.286000	0.72665	2.535000	0.85469	0.655000	0.94253	GCT	STAT1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000257868.2		-	ENST00000392323.2	Missense_Mutation	SNP	2 : 191850364 - 191850364 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	84
TIAM1	7074	broad.mit.edu	37	21	32624336	32624336	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32624336G>A	ENST00000286827.3	-	6	1604	c.1133C>T	c.(1132-1134)gCg>gTg	p.A378V	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.A378V	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	378					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTGACGAGCCGCATCCCCGGT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	69	67			NA	NA	21		NA											NA				32624336		2203	4300	6503	SO:0001583	missense				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299	7074	7074		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	11805	protein-coding gene	gene with protein product		600687			NA	8595894, 15340013	Standard	NM_003253	NM_003253	NA	Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1133C>T	21.37:g.32624336G>A	ENSP00000286827:p.Ala378Val	NA	Q17RT7	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465025	0.43839	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.40476	1.03;1.03	4.86	4.86	0.63082	.	0.246207	0.40469	N	0.001093	T	0.23846	0.0577	N	0.17082	0.46	0.36777	D	0.884119	B;B;B	0.11235	0.003;0.002;0.004	B;B;B	0.06405	0.002;0.001;0.001	T	0.17107	-1.0380	10	0.26408	T	0.33	.	7.4756	0.27374	0.0909:0.2254:0.6837:0.0	.	378;378;378	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	V	378;219;378	ENSP00000286827:A378V;ENSP00000441570:A378V	ENSP00000286827:A378V	A	-	2	0	TIAM1	31546207	1.000000	0.71417	0.919000	0.36401	0.995000	0.86356	3.223000	0.51231	2.497000	0.84241	0.655000	0.94253	GCG	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000192552.1		-	ENST00000286827.3	Missense_Mutation	SNP	21 : 32624336 - 32624336 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	654	66
NETO1	81832	broad.mit.edu	37	18	70461420	70461420	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:70461420C>T	ENST00000327305.6	-	6	1228	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K	NETO1_ENST00000583169.1_Missense_Mutation_p.E191K|NETO1_ENST00000299430.2_Missense_Mutation_p.E190K	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	191	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GCTTTGCCTTCCTTCATAATT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	141	147			NA	NA	18		NA											NA				70461420		2203	4300	6503	SO:0001583	missense			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342	81832	81832			13823	protein-coding gene	gene with protein product		607973			NA	11943477, 12810072	Standard	NM_138999	NM_138999	NA	Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.571G>A	18.37:g.70461420C>T	ENSP00000313088:p.Glu191Lys	NA	Q86W85|Q8ND78|Q8TDF4	37	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	C	31	5.093415	0.94149	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.57752	0.38;0.38	5.29	5.29	0.74685	CUB (4);	0.000000	0.64402	D	0.000011	T	0.63212	0.2492	M	0.73598	2.24	0.80722	D	1	P;P	0.45768	0.728;0.866	B;P	0.46389	0.217;0.515	T	0.69412	-0.5152	10	0.72032	D	0.01	-18.1455	18.9328	0.92572	0.0:1.0:0.0:0.0	.	190;191	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	K	191;190	ENSP00000313088:E191K;ENSP00000299430:E190K	ENSP00000299430:E190K	E	-	1	0	NETO1	68612400	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.487000	0.81328	2.462000	0.83206	0.655000	0.94253	GAA	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256301.2		-	ENST00000327305.6	Missense_Mutation	SNP	18 : 70461420 - 70461420 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	540	93
C8A	731	broad.mit.edu	37	1	57340669	57340669	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:57340669C>T	ENST00000361249.3	+	3	315	c.219C>T	c.(217-219)atC>atT	p.I73I		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	73	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GGGGAACCATCTGCAGTGGTG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	82	84			NA	NA	1		NA											NA				57340669		2203	4300	6503	SO:0001819	synonymous_variant			M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131	731	731		Complement system	1352	protein-coding gene	gene with protein product		120950			NA		Standard	NM_000562	NM_000562	NA	Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.219C>T	1.37:g.57340669C>T		NA	A2RUI4|A2RUI5|Q13668|Q9H130	37	CCDS606.1																																																																																			C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022890.1		+	ENST00000361249.3	Silent	SNP	1 : 57340669 - 57340669 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	169	15
CFH	3075	broad.mit.edu	37	1	196659307	196659307	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196659307C>T	ENST00000359637.2	+	8	1144	c.1082C>T	c.(1081-1083)gCg>gTg	p.A361V	CFH_ENST00000367429.4_Missense_Mutation_p.A425V|CFH_ENST00000439155.2_Missense_Mutation_p.A425V			P08603	CFAH_HUMAN	complement factor H	425	Sushi 6.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CTTCCAAAAGCGCAGACCACA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	90	95			NA	NA	1		NA											NA				196659307		2203	4300	6503	SO:0001583	missense			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971	3075	3075		Complement system	4883	protein-coding gene	gene with protein product	beta-1H, H factor 2 (complement), age-related maculopathy susceptibility 1	134370	H factor 1 (complement)	HF, HF1, HF2	NA	2889480, 2963625	Standard	NM_000186	NM_000186	NA	Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.1082C>T	1.37:g.196659307C>T	ENSP00000352658:p.Ala361Val	NA	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	37		.	.	.	.	.	.	.	.	.	.	c	10.93	1.491258	0.26774	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.64803	-0.12;-0.12;-0.12	4.69	-9.33	0.00639	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.33265	0.0857	N	0.16478	0.41	0.09310	N	1	B;B;B;B	0.34161	0.243;0.439;0.234;0.034	B;B;B;B	0.27380	0.074;0.079;0.026;0.011	T	0.19353	-1.0308	9	0.31617	T	0.26	.	7.1467	0.25587	0.214:0.0964:0.5946:0.095	.	361;425;425;425	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	V	425;425;425;361	ENSP00000356399:A425V;ENSP00000402656:A425V;ENSP00000352658:A361V	ENSP00000352658:A361V	A	+	2	0	CFH	194925930	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.015000	0.03637	-1.894000	0.01105	-3.539000	0.00031	GCG	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000087502.1		+	ENST00000359637.2	Missense_Mutation	SNP	1 : 196659307 - 196659307 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	373	90
ZSWIM8	23053	broad.mit.edu	37	10	75550775	75550775	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75550775C>T	ENST00000604729.1	+	8	1281	c.984C>T	c.(982-984)gcC>gcT	p.A328A	ZSWIM8_ENST00000398706.2_Silent_p.A328A|ZSWIM8_ENST00000603114.1_Silent_p.A328A|ZSWIM8_ENST00000605216.1_Silent_p.A328A|ZSWIM8_ENST00000604524.1_Silent_p.A328A					zinc finger, SWIM-type containing 8	NA											NA						AGCCGCCAGCCGCTGCTGAAT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	63	61			NA	NA	10		NA											NA				75550775		2013	4184	6197	SO:0001819	synonymous_variant			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655	23053	23053		Zinc fingers, SWIM-type	23528	protein-coding gene	gene with protein product			KIAA0913	KIAA0913	NA		Standard	NM_001242487	NM_015037	NA	Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000604729.1:c.984C>T	10.37:g.75550775C>T		NA		37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.482|5.482	0.273966|0.273966	0.10403|0.10403	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000451629|ENST00000433366	.|.	.|.	.|.	5.36|5.36	-7.05|-7.05	0.01573|0.01573	.|.	.|.	.|.	.|.	.|.	T|T	0.37999|0.37999	0.1024|0.1024	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.43572|0.43572	-0.9383|-0.9383	4|4	.|.	.|.	.|.	-3.7544|-3.7544	3.5968|3.5968	0.08009|0.08009	0.1496:0.3868:0.0871:0.3764|0.1496:0.3868:0.0871:0.3764	.|.	.|.	.|.	.|.	L|C	131|51	.|.	.|.	P|R	+|+	2|1	0|0	KIAA0913|KIAA0913	75220781|75220781	0.000000|0.000000	0.05858|0.05858	0.741000|0.741000	0.31004|0.31004	0.974000|0.974000	0.67602|0.67602	-2.725000|-2.725000	0.00808|0.00808	-1.019000|-1.019000	0.03358|0.03358	-0.469000|-0.469000	0.05056|0.05056	CCG|CGC	ZSWIM8-027	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000468541.1		+	ENST00000604729.1	Silent	SNP	10 : 75550775 - 75550775 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	473	18
CELSR3	1951	broad.mit.edu	37	3	48677614	48677614	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48677614G>T	ENST00000164024.4	-	34	9684	c.9404C>A	c.(9403-9405)gCt>gAt	p.A3135D	CELSR3_ENST00000544264.1_Missense_Mutation_p.A3140D	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3135					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAAGCGGCCAGCCATGGCGCC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	36	36			NA	NA	3		NA											NA				48677614		2201	4286	6487	SO:0001583	missense			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300	1951	1951		Cadherins / Major cadherins, -, GPCR / Class B : Orphans	3230	protein-coding gene	gene with protein product	flamingo homolog 1 (Drosophila)	604264	cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog	EGFL1	NA	9693030	Standard	NM_001407	NM_001407	NA	Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.9404C>A	3.37:g.48677614G>T	ENSP00000164024:p.Ala3135Asp	NA	O75092	37	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.862507	0.32884	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.70986	-0.53;-0.52	4.81	3.91	0.45181	.	.	.	.	.	T	0.54319	0.1851	N	0.14661	0.345	0.21697	N	0.999586	B;B;B	0.26258	0.145;0.09;0.112	B;B;B	0.27380	0.079;0.036;0.036	T	0.49790	-0.8902	9	0.54805	T	0.06	.	9.9508	0.41638	0.0:0.1512:0.692:0.1568	.	3140;3135;3233	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	D	3135;3140	ENSP00000164024:A3135D;ENSP00000445694:A3140D	ENSP00000164024:A3135D	A	-	2	0	CELSR3	48652618	1.000000	0.71417	0.383000	0.26132	0.720000	0.41350	4.780000	0.62382	0.970000	0.38263	0.555000	0.69702	GCT	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257523.1		-	ENST00000164024.4	Missense_Mutation	SNP	3 : 48677614 - 48677614 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	460	94
SLC45A4	57210	broad.mit.edu	37	8	142228727	142228727	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142228727C>T	ENST00000519067.1	-	4	1162	c.859G>A	c.(859-861)Gcc>Acc	p.A287T	SLC45A4_ENST00000024061.3_Missense_Mutation_p.A287T|SLC45A4_ENST00000517878.1_Missense_Mutation_p.A338T|SLC45A4_ENST00000433583.2_Missense_Mutation_p.A280T			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	338					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGGTAGGAGGCGTCGTGGAAG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	THR/ALA	0,4406		0,0,2203	45	48	47		859	1.3	1	8		47	1,8597	1.2+/-3.3	0,1,4298	no	missense	SLC45A4	NM_001080431.1	58	0,1,6501	TT,TC,CC	NA	0.0116,0.0,0.0077	benign	287/799	142228727	1,13003	2203	4299	6502	SO:0001583	missense			AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22					57210	57210		Solute carriers	29196	protein-coding gene	gene with protein product					NA		Standard	XM_050325	NM_001080431	NA	Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000519067.1:c.859G>A	8.37:g.142228727C>T	ENSP00000429059:p.Ala287Thr	NA	Q6ZRI2|Q9ULU3	37		.	.	.	.	.	.	.	.	.	.	C	12.75	2.031900	0.35893	0.0	1.16E-4	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	T;T;T;T	0.15139	2.48;2.47;2.47;2.45	5.75	1.28	0.21552	.	0.799963	0.11527	N	0.555059	T	0.10852	0.0265	L	0.47716	1.5	0.27514	N	0.951602	B;B;B	0.29037	0.024;0.231;0.01	B;B;B	0.14023	0.003;0.01;0.004	T	0.29822	-0.9999	10	0.17369	T	0.5	-17.9139	3.3128	0.07022	0.2097:0.5307:0.0963:0.1634	.	338;287;287	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	T	287;338;280;287	ENSP00000429059:A287T;ENSP00000428137:A338T;ENSP00000400799:A280T;ENSP00000024061:A287T	ENSP00000024061:A287T	A	-	1	0	SLC45A4	142297909	0.012000	0.17670	0.955000	0.39395	0.818000	0.46254	-0.201000	0.09464	0.663000	0.31027	0.555000	0.69702	GCC	SLC45A4-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000378932.2		-	ENST00000519067.1	Missense_Mutation	SNP	8 : 142228727 - 142228727 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	606	81
RC3H2	54542	broad.mit.edu	37	9	125652725	125652725	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125652725C>A	ENST00000373670.1	-	3	1049	c.449G>T	c.(448-450)aGa>aTa	p.R150I	RC3H2_ENST00000373665.2_Missense_Mutation_p.R150I|RC3H2_ENST00000423239.2_Missense_Mutation_p.R150I|RC3H2_ENST00000471874.2_Missense_Mutation_p.R150I|RC3H2_ENST00000478216.1_5'UTR|RC3H2_ENST00000335387.5_Missense_Mutation_p.R150I|RC3H2_ENST00000357244.2_Missense_Mutation_p.R150I			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	150						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TCGCATGGCTCTTACACGACC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	105	105			NA	NA	9		NA											NA				125652725		1961	4173	6134	SO:0001583	missense			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586	54542	54542		RING-type (C3HC4) zinc fingers, Zinc fingers, CCCH-type domain containing	21461	protein-coding gene	gene with protein product		615231	membrane associated DNA binding protein, ring finger and CCCH-type zinc finger domains 2	MNAB	NA	10938276	Standard	NM_018835	NM_001100588	NA	Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.449G>T	9.37:g.125652725C>A	ENSP00000362774:p.Arg150Ile	NA	Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	37	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	C	33	5.269290	0.95429	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239;ENST00000373665;ENST00000335387	D;D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79;-3.79	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.97498	0.9181	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.89917	0.999;0.99;1.0;0.994	D;D;D;D	0.83275	0.979;0.944;0.996;0.975	D	0.98019	1.0370	10	0.87932	D	0	-25.9351	18.5797	0.91166	0.0:1.0:0.0:0.0	.	150;150;150;150	A6NHN2;Q9HBD1;Q9HBD1-5;Q9HBD1-4	.;RC3H2_HUMAN;.;.	I	150;150;21;150;150;150	ENSP00000362774:R150I;ENSP00000349783:R150I;ENSP00000411767:R150I;ENSP00000362769:R150I;ENSP00000335150:R150I	ENSP00000335150:R150I	R	-	2	0	RC3H2	124692546	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.461000	0.80834	2.636000	0.89361	0.491000	0.48974	AGA	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053966.1		-	ENST00000373670.1	Missense_Mutation	SNP	9 : 125652725 - 125652725 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	408	91
KMT2D	8085	broad.mit.edu	37	12	49425501	49425501	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49425501C>A	ENST00000301067.7	-	39	12986	c.12987G>T	c.(12985-12987)caG>caT	p.Q4329H		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D	NA											NA						CAGTGGGAAGCTGGGAGCTGG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	51	51			NA	NA	12		NA											NA				49425501		1941	4130	6071	SO:0001583	missense			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.12987G>T	12.37:g.49425501C>A	ENSP00000301067:p.Gln4329His	NA		37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	1.427	-0.571327	0.03882	.	.	ENSG00000167548	ENST00000301067	T	0.81078	-1.45	3.22	2.31	0.28768	.	.	.	.	.	T	0.70491	0.3230	N	0.19112	0.55	0.18873	N	0.999982	D	0.56521	0.976	P	0.47528	0.549	T	0.61023	-0.7146	9	0.87932	D	0	.	7.0017	0.24813	0.0:0.7695:0.0:0.2305	.	4329	O14686	MLL2_HUMAN	H	4329	ENSP00000301067:Q4329H	ENSP00000301067:Q4329H	Q	-	3	2	MLL2	47711768	0.010000	0.17322	0.994000	0.49952	0.717000	0.41224	-0.029000	0.12329	0.653000	0.30826	0.655000	0.94253	CAG	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390183.2		-	ENST00000301067.7	Missense_Mutation	SNP	12 : 49425501 - 49425501 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	121	22
PRRC2B	84726	broad.mit.edu	37	9	134363345	134363345	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134363345G>T	ENST00000405995.1	+	27	4231	c.4005G>T	c.(4003-4005)caG>caT	p.Q1335H	PRRC2B_ENST00000372249.1_Missense_Mutation_p.Q126H|PRRC2B_ENST00000357304.4_Missense_Mutation_p.Q2029H|PRRC2B_ENST00000458550.1_Missense_Mutation_p.Q1335H			Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	2029							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CAGGCATGCAGCCCTTGGAGA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	45	44			NA	NA	9		NA											NA				134363345		2049	4196	6245	SO:0001583	missense			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723	84726	84726			28121	protein-coding gene	gene with protein product			KIAA0515, HLA-B associated transcript 2-like, HLA-B associated transcript 2-like 1	KIAA0515, BAT2L, BAT2L1	NA	9628581	Standard		NM_013318	NA	Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000405995.1:c.4005G>T	9.37:g.134363345G>T	ENSP00000384606:p.Gln1335His	NA	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.432110|4.432110	0.83776|0.83776	.|.	.|.	ENSG00000130723|ENSG00000130723	ENST00000320547|ENST00000405995;ENST00000357304;ENST00000458550;ENST00000372249	.|T;T;T	.|0.07327	.|3.2;3.49;3.2	4.82|4.82	3.9|3.9	0.45041|0.45041	.|.	.|0.000000	.|0.39615	.|U	.|0.001304	T|T	0.19046|0.19046	0.0457|0.0457	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	.|D;P	.|0.54047	.|0.964;0.874	.|P;B	.|0.53593	.|0.73;0.417	T|T	0.00591|0.00591	-1.1655|-1.1655	5|10	.|0.87932	.|D	.|0	-21.2766|-21.2766	13.0604|13.0604	0.59003|0.59003	0.0835:0.0:0.9165:0.0|0.0835:0.0:0.9165:0.0	.|.	.|1335;2029	.|Q5JSZ5-5;Q5JSZ5	.|.;PRC2B_HUMAN	S|H	36|1335;2029;1335;126	.|ENSP00000384606:Q1335H;ENSP00000349856:Q2029H;ENSP00000398853:Q1335H	.|ENSP00000349856:Q2029H	A|Q	+|+	1|3	0|2	PRRC2B|PRRC2B	133353166|133353166	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	6.237000|6.237000	0.72345|0.72345	2.382000|2.382000	0.81193|0.81193	0.561000|0.561000	0.74099|0.74099	GCC|CAG	PRRC2B-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000054751.1		+	ENST00000405995.1	Missense_Mutation	SNP	9 : 134363345 - 134363345 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	118	24
CAND1	55832	broad.mit.edu	37	12	67686551	67686551	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:67686551C>T	ENST00000545606.1	+	3	799	c.362C>T	c.(361-363)tCc>tTc	p.S121F		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	121					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CCTCCAGCTTCCAGTGGTAAG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	120	120			NA	NA	12		NA											NA				67686551		2203	4300	6503	SO:0001583	missense				CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530	55832	55832			30688	protein-coding gene	gene with protein product	TBP interacting protein	607727			NA	10048485, 8954946	Standard	NM_018448	NM_018448	NA	Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.362C>T	12.37:g.67686551C>T	ENSP00000442318:p.Ser121Phe	NA	B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	37	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047431	0.93740	.	.	ENSG00000111530	ENST00000545606;ENST00000299218	T	0.08634	3.07	4.9	4.9	0.64082	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.22126	0.0533	M	0.77820	2.39	0.80722	D	1	P	0.52577	0.954	P	0.50617	0.646	T	0.01993	-1.1233	9	.	.	.	-5.5697	18.1081	0.89526	0.0:1.0:0.0:0.0	.	121	Q86VP6	CAND1_HUMAN	F	121	ENSP00000442318:S121F	.	S	+	2	0	CAND1	65972818	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.786000	0.85741	2.260000	0.74910	0.655000	0.94253	TCC	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402105.1		+	ENST00000545606.1	Missense_Mutation	SNP	12 : 67686551 - 67686551 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	754	125
NAA40	79829	broad.mit.edu	37	11	63720001	63720001	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63720001G>A	ENST00000542163.1	+	5	655	c.311G>A	c.(310-312)cGg>cAg	p.R104Q	NAA40_ENST00000536939.1_3'UTR|NAA40_ENST00000456907.2_Missense_Mutation_p.R85Q|NAA40_ENST00000539656.1_Intron|NAA40_ENST00000377793.4_Missense_Mutation_p.R125Q			Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit	125	N-acetyltransferase.						N-acetyltransferase activity			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						TCTCACTTCCGGTTTGACGTG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	153	163			NA	NA	11		NA											NA				63720001		2201	4297	6498	SO:0001583	missense			AK023910	CCDS8053.1, CCDS73311.1	11q13.1	2013-10-11	2013-08-28	2010-01-14	ENSG00000110583	ENSG00000110583	79829	79829		N(alpha)-acetyltransferase subunits	25845	protein-coding gene	gene with protein product			N-acetyltransferase 11, N-acetyltransferase 11 (GCN5-related, putative), N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae)	NAT11	NA	19660095	Standard	NM_024771	XM_005274296	NA	Approved	FLJ13848	uc009yoz.3	Q86UY6	OTTHUMG00000167784	ENST00000542163.1:c.311G>A	11.37:g.63720001G>A	ENSP00000442055:p.Arg104Gln	NA	Q5HYL5|Q9H897	37		.	.	.	.	.	.	.	.	.	.	G	37	6.029838	0.97216	.	.	ENSG00000110583	ENST00000377793;ENST00000456907;ENST00000542163	T;T;T	0.23754	1.89;1.89;1.89	5.72	5.72	0.89469	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.62913	0.2467	M	0.92412	3.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.70934	-0.4737	10	0.62326	D	0.03	-15.2497	18.6393	0.91389	0.0:0.0:1.0:0.0	.	85;125	B4DU10;Q86UY6	.;NAA40_HUMAN	Q	125;85;104	ENSP00000367024:R125Q;ENSP00000407578:R85Q;ENSP00000442055:R104Q	ENSP00000367024:R125Q	R	+	2	0	NAA40	63476577	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.514000	0.98013	2.692000	0.91855	0.555000	0.69702	CGG	NAA40-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000396269.1		+	ENST00000542163.1	Missense_Mutation	SNP	11 : 63720001 - 63720001 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	360	63
KCNK1	3775	broad.mit.edu	37	1	233802583	233802583	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233802583G>A	ENST00000366621.3	+	2	766	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	KCNK1_ENST00000366620.1_Missense_Mutation_p.A84T|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	200						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	CTTCATCCCGGCCGCTGTCTT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	136	142			NA	NA	1		NA											NA				233802583		2203	4300	6503	SO:0001583	missense			U33632	CCDS1599.1	1q42-q43	2012-03-07			ENSG00000135750	ENSG00000135750	3775	3775		Potassium channels, Voltage-gated ion channels / Potassium channels, Two-P	6272	protein-coding gene	gene with protein product		601745			NA	8661042, 16382106	Standard	NM_002245	NM_002245	NA	Approved	K2p1.1, DPK, TWIK-1	uc010pxo.1	O00180	OTTHUMG00000037923	ENST00000366621.3:c.598G>A	1.37:g.233802583G>A	ENSP00000355580:p.Ala200Thr	NA	Q13307|Q5T5E8	37	CCDS1599.1	.	.	.	.	.	.	.	.	.	.	G	34	5.331415	0.95733	.	.	ENSG00000135750	ENST00000366621;ENST00000366620;ENST00000446915	T;D;D	0.98400	1.41;-4.91;-4.91	5.7	5.7	0.88788	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	D	0.98785	0.9591	M	0.66378	2.025	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99806	1.1038	10	0.59425	D	0.04	.	19.8411	0.96685	0.0:0.0:1.0:0.0	.	200	O00180	KCNK1_HUMAN	T	200;84;118	ENSP00000355580:A200T;ENSP00000355579:A84T;ENSP00000409626:A118T	ENSP00000355579:A84T	A	+	1	0	KCNK1	231869206	1.000000	0.71417	0.281000	0.24762	0.877000	0.50540	9.612000	0.98347	2.683000	0.91414	0.655000	0.94253	GCC	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092565.1		+	ENST00000366621.3	Missense_Mutation	SNP	1 : 233802583 - 233802583 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	742	110
G3BP1	10146	broad.mit.edu	37	5	151175110	151175110	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151175110A>C	ENST00000394123.3	+	6	658	c.513A>C	c.(511-513)ggA>ggC	p.G171G	G3BP1_ENST00000356245.3_Silent_p.G171G|G3BP1_ENST00000543466.1_5'UTR			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	171	Glu-rich.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			ATGATTCTGGAACTTTCTATG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	152	149			NA	NA	5		NA											NA				151175110		2203	4300	6503	SO:0001819	synonymous_variant			BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907	10146	10146		RNA binding motif (RRM) containing	30292	protein-coding gene	gene with protein product	Ras-GTPase-activating protein SH3-domain-binding protein	608431			NA	8649363, 9889278	Standard	NM_005754	NM_005754	NA	Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.513A>C	5.37:g.151175110A>C		NA		37	CCDS4319.1																																																																																			G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252431.1		+	ENST00000394123.3	Silent	SNP	5 : 151175110 - 151175110 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	564	99
KIAA1737	0	broad.mit.edu	37	14	77580103	77580103	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77580103G>A	ENST00000361786.2	+	4	959	c.642G>A	c.(640-642)acG>acA	p.T214T	RP11-463C8.4_ENST00000557752.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	K1737_HUMAN		214										endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		GTCCCTCGACGCCAGCACCAC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	44	45			NA	NA	14		NA											NA				77580103		2203	4300	6503	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000361786.2:c.642G>A	14.37:g.77580103G>A		NA	B2RCI1|Q8N389|Q8NDZ1	37	CCDS9855.1																																																																																			KIAA1737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414278.1		+	ENST00000361786.2	Silent	SNP	14 : 77580103 - 77580103 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	283	38
DCAF13	25879	broad.mit.edu	37	8	104453770	104453770	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104453770C>T	ENST00000297579.5	+	10	1907	c.1630C>T	c.(1630-1632)Cgt>Tgt	p.R544C		NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	392					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						ACGTATAGCTCGTCATCGACA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	124	126			NA	NA	8		NA											NA				104453770		2203	4300	6503	SO:0001583	missense			AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934	25879	25879		WD repeat domain containing, DDB1 and CUL4 associated factors	24535	protein-coding gene	gene with protein product			WD repeats and SOF1 domain containing	WDSOF1	NA	11042152	Standard	NM_015420	NM_015420	NA	Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000297579.5:c.1630C>T	8.37:g.104453770C>T	ENSP00000297579:p.Arg544Cys	NA	Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	37	CCDS34934.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.445274	0.63178	.	.	ENSG00000164934	ENST00000297579	T	0.76316	-1.01	5.42	5.42	0.78866	.	0.068684	0.64402	D	0.000017	D	0.90283	0.6961	M	0.90977	3.165	0.80722	D	1	.	.	.	.	.	.	D	0.92323	0.5867	8	0.87932	D	0	-16.4943	17.4002	0.87458	0.0:1.0:0.0:0.0	.	.	.	.	C	544	ENSP00000297579:R544C	ENSP00000297579:R544C	R	+	1	0	DCAF13	104522946	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	2.433000	0.44793	2.521000	0.84997	0.563000	0.77884	CGT	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380797.2		+	ENST00000297579.5	Missense_Mutation	SNP	8 : 104453770 - 104453770 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	618	120
RDH10	157506	broad.mit.edu	37	8	74234928	74234928	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:74234928C>A	ENST00000240285.5	+	5	1463	c.785C>A	c.(784-786)cCt>cAt	p.P262H	RP11-434I12.2_ENST00000517475.1_RNA|RDH10_ENST00000519380.1_Missense_Mutation_p.P97H|RP11-434I12.2_ENST00000514599.1_RNA	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	262					retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			GAAATTGAGCCTTTTCTGCCA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	63	63			NA	NA	8		NA											NA				74234928		2203	4300	6503	SO:0001583	missense			AF456765	CCDS6213.1	8q21.11	2011-09-20			ENSG00000121039	ENSG00000121039	157506	157506	1.1.1.-	Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3	19975	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 16C, member 4	607599			NA	12407145, 19027726	Standard		NM_172037	NA	Approved	SDR16C4	uc003xzi.3	Q8IZV5	OTTHUMG00000164492	ENST00000240285.5:c.785C>A	8.37:g.74234928C>A	ENSP00000240285:p.Pro262His	NA		37	CCDS6213.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.674208	0.47781	.	.	ENSG00000121039	ENST00000240285;ENST00000519380	D;T	0.91068	-2.78;0.41	5.25	4.38	0.52667	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.84202	0.5420	N	0.11560	0.145	0.58432	D	0.999994	D	0.58970	0.984	P	0.49922	0.626	T	0.81863	-0.0737	10	0.14656	T	0.56	.	14.4028	0.67060	0.0:0.929:0.0:0.071	.	262	Q8IZV5	RDH10_HUMAN	H	262;97	ENSP00000240285:P262H;ENSP00000428132:P97H	ENSP00000240285:P262H	P	+	2	0	RDH10	74397482	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.854000	0.55949	1.589000	0.49982	0.591000	0.81541	CCT	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378982.1		+	ENST00000240285.5	Missense_Mutation	SNP	8 : 74234928 - 74234928 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	55
ARRDC4	91947	broad.mit.edu	37	15	98513913	98513913	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:98513913C>T	ENST00000268042.6	+	7	1304	c.1140C>T	c.(1138-1140)tgC>tgT	p.C380C	ARRDC4_ENST00000538249.1_Silent_p.C293C	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	380					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			GAGAAGTGTGCTGTCCTGTGT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	102	108			NA	NA	15		NA											NA				98513913		2197	4298	6495	SO:0001819	synonymous_variant			BC028704	CCDS10377.1	15q26.2	2005-08-16			ENSG00000140450	ENSG00000140450	91947	91947			28087	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_183376	NM_183376	NA	Approved	FLJ36045	uc010bom.3	Q8NCT1	OTTHUMG00000149849	ENST00000268042.6:c.1140C>T	15.37:g.98513913C>T		NA	Q6NSI9	37	CCDS10377.1																																																																																			ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313535.1		+	ENST00000268042.6	Silent	SNP	15 : 98513913 - 98513913 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	492	88
OR52N4	390072	broad.mit.edu	37	11	5776325	5776325	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5776325C>A	ENST00000317254.3	+	1	403	c.355C>A	c.(355-357)Ctt>Att	p.L119I	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		GGTGCTTATGCTTATGGCCCT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	164	165			NA	NA	11		NA											NA				5776325		2201	4297	6498	SO:0001583	missense			AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074	390072	390072		GPCR / Class A : Olfactory receptors	15230	protein-coding gene	gene with protein product			olfactory receptor, family 52, subfamily N, member 4		NA		Standard	NM_001005175	NM_001005175	NA	Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.355C>A	11.37:g.5776325C>A	ENSP00000323224:p.Leu119Ile	NA	B2RNP8|Q6IF77	37	CCDS44528.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133435	0.37630	.	.	ENSG00000181074	ENST00000317254	T	0.02837	4.14	5.97	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43579	D	0.000543	T	0.07818	0.0196	L	0.35542	1.07	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.12400	-1.0549	10	0.66056	D	0.02	.	9.7107	0.40243	0.0:0.7793:0.1439:0.0768	.	119	Q8NGI2	O52N4_HUMAN	I	119	ENSP00000323224:L119I	ENSP00000323224:L119I	L	+	1	0	OR52N4	5732901	0.019000	0.18553	0.998000	0.56505	0.737000	0.42083	0.191000	0.17076	2.834000	0.97654	0.557000	0.71058	CTT	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000143350.1		+	ENST00000317254.3	Missense_Mutation	SNP	11 : 5776325 - 5776325 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	592	26
DNAH10	196385	broad.mit.edu	37	12	124332579	124332579	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124332579C>T	ENST00000409039.3	+	32	5557	c.5532C>T	c.(5530-5532)gaC>gaT	p.D1844D		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1844	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCACCAAGGACCTGGCGAAAG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	117	116			NA	NA	12		NA											NA				124332579		1998	4186	6184	SO:0001819	synonymous_variant			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653	196385	196385		Axonemal dyneins	2941	protein-coding gene	gene with protein product		605884	dynein, axonemal, heavy polypeptide 10		NA		Standard		NM_207437	NA	Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5532C>T	12.37:g.124332579C>T		NA	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	37	CCDS9255.2																																																																																			DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335420.3		+	ENST00000409039.3	Silent	SNP	12 : 124332579 - 124332579 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	832	162
TM4SF18	116441	broad.mit.edu	37	3	149042779	149042779	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:149042779C>T	ENST00000296059.2	-	4	563	c.298G>A	c.(298-300)Gga>Aga	p.G100R	TM4SF18_ENST00000470080.1_Missense_Mutation_p.G100R|RP11-206M11.7_ENST00000489011.1_RNA	NM_138786.3	NP_620141.1	Q96CE8	T4S18_HUMAN	transmembrane 4 L six family member 18	100						integral to membrane				lung(1)|ovary(1)|prostate(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			AAAGCAATTCCGAGGGAAGAA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	72	72			NA	NA	3		NA											NA				149042779		2203	4300	6503	SO:0001583	missense			BC014339	CCDS3142.1	3q25.1	2005-08-09			ENSG00000163762	ENSG00000163762	116441	116441			25181	protein-coding gene	gene with protein product					NA	10975581	Standard	NM_138786	NM_001184723	NA	Approved	L6D	uc021xfl.1	Q96CE8	OTTHUMG00000159582	ENST00000296059.2:c.298G>A	3.37:g.149042779C>T	ENSP00000296059:p.Gly100Arg	NA	B2R8K0|D3DNH5	37	CCDS3142.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599698	0.87055	.	.	ENSG00000163762	ENST00000296059;ENST00000470080;ENST00000474754	T;T;T	0.37235	1.21;1.21;1.21	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.66187	0.2764	M	0.85777	2.775	0.48571	D	0.999673	D	0.89917	1.0	D	0.97110	1.0	T	0.70403	-0.4881	10	0.87932	D	0	-13.8166	17.8373	0.88701	0.0:1.0:0.0:0.0	.	100	Q96CE8	T4S18_HUMAN	R	100	ENSP00000296059:G100R;ENSP00000419278:G100R;ENSP00000418372:G100R	ENSP00000296059:G100R	G	-	1	0	TM4SF18	150525469	1.000000	0.71417	0.998000	0.56505	0.943000	0.58893	4.520000	0.60524	2.745000	0.94114	0.655000	0.94253	GGA	TM4SF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356326.1		-	ENST00000296059.2	Missense_Mutation	SNP	3 : 149042779 - 149042779 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	222	40
NUTM1	256646	broad.mit.edu	37	15	34648046	34648046	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34648046G>A	ENST00000537011.1	+	8	2219	c.1837G>A	c.(1837-1839)Ggg>Agg	p.G613R	NUTM1_ENST00000333756.4_Missense_Mutation_p.G585R|NUTM1_ENST00000438749.3_Missense_Mutation_p.G603R	NM_001284292.1	NP_001271221.1			NUT midline carcinoma, family member 1	NA											NA						GGAGAGGAGAGGGTCTGGGAA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	30	29			NA	NA	15		NA											NA				34648046		2200	4292	6492	SO:0001583	missense			AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507	256646	256646			29919	protein-coding gene	gene with protein product	nuclear protein in testis	608963	chromosome 15 open reading frame 55	C15orf55	NA	12543779	Standard	NM_175741	NM_175741	NA	Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000537011.1:c.1837G>A	15.37:g.34648046G>A	ENSP00000444896:p.Gly613Arg	NA		37		.	.	.	.	.	.	.	.	.	.	G	20.4	3.980969	0.74474	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000333756	T;T;T	0.11385	2.79;2.78;2.79	5.08	3.13	0.36017	.	0.265541	0.26590	N	0.023538	T	0.22166	0.0534	L	0.55481	1.735	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.69479	0.92;0.964;0.92	T	0.03212	-1.1060	10	0.46703	T	0.11	.	7.3726	0.26810	0.0933:0.1681:0.7386:0.0	.	603;613;585	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	R	613;603;585	ENSP00000444896:G613R;ENSP00000407031:G603R;ENSP00000329448:G585R	ENSP00000329448:G585R	G	+	1	0	C15orf55	32435338	0.960000	0.32886	0.002000	0.10522	0.626000	0.37791	1.990000	0.40717	0.489000	0.27749	0.655000	0.94253	GGG	NUTM1-001	PUTATIVE	downstream_ATG|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000418024.1		+	ENST00000537011.1	Missense_Mutation	SNP	15 : 34648046 - 34648046 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	50
CILP2	148113	broad.mit.edu	37	19	19655592	19655592	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19655592C>T	ENST00000586018.1	+	8	2358	c.2256C>T	c.(2254-2256)aaC>aaT	p.N752N	CILP2_ENST00000291495.5_Silent_p.N746N			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	746						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCTACGCCAACGACAAGTTCA	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	19	19			NA	NA	19		NA											NA				19655592		2192	4282	6474	SO:0001819	synonymous_variant			AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161	148113	148113		Immunoglobulin superfamily / Immunoglobulin-like domain containing	24213	protein-coding gene	gene with protein product		612419			NA	12477932	Standard	NM_153221	NM_153221	NA	Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000586018.1:c.2256C>T	19.37:g.19655592C>T		NA	Q6NV88|Q8N4A6|Q8WV21	37																																																																																				CILP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000459739.1		+	ENST00000586018.1	Silent	SNP	19 : 19655592 - 19655592 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	273	45
MLXIPL	51085	broad.mit.edu	37	7	73012016	73012016	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73012016C>T	ENST00000313375.3	-	9	1146	c.1099G>A	c.(1099-1101)Gac>Aac	p.D367N	MLXIPL_ENST00000429400.2_Missense_Mutation_p.D367N|MLXIPL_ENST00000395189.1_Missense_Mutation_p.D274N|MLXIPL_ENST00000354613.1_Missense_Mutation_p.D367N|MLXIPL_ENST00000434326.1_Missense_Mutation_p.D274N|MLXIPL_ENST00000414749.2_Missense_Mutation_p.D367N	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	367					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCGCTGGAGTCCAAGGGGCCA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	0,3258		0,0,1629	20	24	22		1099,1099,1099,1099	4.3	1	7		22	1,6775		0,1,3387	no	missense,missense,missense,missense	MLXIPL	NM_032951.2,NM_032952.2,NM_032953.2,NM_032954.2	23,23,23,23	0,1,5016	TT,TC,CC	NA	0.0148,0.0,0.01	probably-damaging,probably-damaging,probably-damaging,probably-damaging	367/853,367/834,367/851,367/832	73012016	1,10033	1629	3388	5017	SO:0001583	missense			AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950	51085	51085			12744	protein-coding gene	gene with protein product	carbohydrate response element binding protein	605678	Williams Beuren syndrome chromosome region 14	WBSCR14	NA	9860302	Standard	NM_032951	XM_005250399	NA	Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.1099G>A	7.37:g.73012016C>T	ENSP00000320886:p.Asp367Asn	NA	C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	37	CCDS5553.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.851344	0.71719	0.0	1.48E-4	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326;ENST00000453275	T;T;T;T;T;T	0.24151	2.46;2.47;2.46;2.47;1.87;1.88	4.31	4.31	0.51392	.	1.866310	0.02698	N	0.111450	T	0.48223	0.1488	L	0.51422	1.61	0.19300	N	0.999974	D;D;D;D;D;D	0.76494	0.999;0.998;0.997;0.998;0.998;0.998	D;D;P;D;D;D	0.73708	0.981;0.917;0.829;0.917;0.917;0.917	T	0.21999	-1.0229	10	0.56958	D	0.05	-11.6524	9.7151	0.40270	0.2075:0.7925:0.0:0.0	.	274;274;367;367;367;367	C5HU01;Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;.;MLXPL_HUMAN;.;.;.	N	367;367;367;367;274;274;200	ENSP00000412330:D367N;ENSP00000406296:D367N;ENSP00000320886:D367N;ENSP00000346629:D367N;ENSP00000378616:D274N;ENSP00000392636:D274N	ENSP00000320886:D367N	D	-	1	0	MLXIPL	72649952	0.996000	0.38824	0.998000	0.56505	0.942000	0.58702	1.454000	0.35178	1.945000	0.56424	0.423000	0.28283	GAC	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252262.1		-	ENST00000313375.3	Missense_Mutation	SNP	7 : 73012016 - 73012016 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	264	19
ATAT1	79969	broad.mit.edu	37	6	30614342	30614342	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30614342C>A	ENST00000330083.5	+	13	1470	c.1152C>A	c.(1150-1152)tcC>tcA	p.S384S	ATAT1_ENST00000376478.2_Silent_p.S373S|ATAT1_ENST00000376485.4_Silent_p.S396S|ATAT1_ENST00000468713.1_3'UTR	NM_001031722.2	NP_001026892.1	Q5SQI0	ATAT_HUMAN	alpha tubulin acetyltransferase 1	396							tubulin N-acetyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						CAGCCCAGTCCTGGACAGTGG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	15	14			NA	NA	6		NA											NA				30614342		1303	2553	3856	SO:0001819	synonymous_variant			AK023220	CCDS4683.2, CCDS54978.1, CCDS59002.1	6p21.32	2014-06-17	2010-10-11	2010-10-11	ENSG00000137343	ENSG00000137343	79969	79969	2.3.1.108		21186	protein-coding gene	gene with protein product	alpha-tubulin N-acetyltransferase	615556	chromosome 6 open reading frame 134	C6orf134	NA	20829795	Standard	NM_024909	NM_024909	NA	Approved	FLJ13158, Em:AB023049.7, MEC17	uc003nqv.3	Q5SQI0	OTTHUMG00000031219	ENST00000330083.5:c.1152C>A	6.37:g.30614342C>A		NA	A2AB28|Q3LIB0|Q5JP39|Q5JP40|Q5JP42|Q5SQI1|Q5SU03|Q86X42|Q8NDK9|Q9BRS1|Q9H8X5	37	CCDS54978.1																																																																																			ATAT1-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256227.1		+	ENST00000330083.5	Silent	SNP	6 : 30614342 - 30614342 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	52	7
ABCA4	24	broad.mit.edu	37	1	94514490	94514490	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94514490C>T	ENST00000370225.3	-	18	2763	c.2677G>A	c.(2677-2679)Gcc>Acc	p.A893T	ABCA4_ENST00000535735.1_Missense_Mutation_p.A819T	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	893					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTTTCCAGGGCTCTTTCTTCT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	123	127			NA	NA	1		NA											NA				94514490		2203	4300	6503	SO:0001583	missense			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691	24	24		ATP binding cassette transporters / subfamily A	34	protein-coding gene	gene with protein product	Stargardt disease	601691	ATP-binding cassette transporter, retinal-specific	STGD1, ABCR, RP19, STGD	NA	9490294	Standard	NM_000350	NM_000350	NA	Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2677G>A	1.37:g.94514490C>T	ENSP00000359245:p.Ala893Thr	NA	O15112|O60438|O60915|Q4LE31	37	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178708	0.38511	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.91792	-2.79;-2.91	5.35	4.42	0.53409	.	1.078010	0.07078	N	0.836569	D	0.87434	0.6176	L	0.36672	1.1	0.22940	N	0.998535	D;B	0.58268	0.982;0.001	P;B	0.55615	0.78;0.005	T	0.76719	-0.2856	10	0.20519	T	0.43	.	9.2755	0.37696	0.0:0.9035:0.0:0.0965	.	819;893	F5H6E5;P78363	.;ABCA4_HUMAN	T	893;819	ENSP00000359245:A893T;ENSP00000437682:A819T	ENSP00000359245:A893T	A	-	1	0	ABCA4	94287078	0.030000	0.19436	1.000000	0.80357	0.960000	0.62799	0.969000	0.29370	2.642000	0.89623	0.655000	0.94253	GCC	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029320.1		-	ENST00000370225.3	Missense_Mutation	SNP	1 : 94514490 - 94514490 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	299	35
LRRC16A	55604	broad.mit.edu	37	6	25495362	25495362	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25495362C>T	ENST00000329474.6	+	16	1612	c.1244C>T	c.(1243-1245)tCt>tTt	p.S415F		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	415					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GTACCTCCATCTTTCAAGCAA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	124	126			NA	NA	6		NA											NA				25495362		1838	4087	5925	SO:0001583	missense			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691	55604	55604			21581	protein-coding gene	gene with protein product	capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)	609593	leucine rich repeat containing 16	LRRC16	NA	19846667	Standard	NM_017640	NM_017640	NA	Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.1244C>T	6.37:g.25495362C>T	ENSP00000331983:p.Ser415Phe	NA	Q6ZUH5|Q6ZW07|Q9NXU7	37	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.913803	0.92178	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.54279	0.58	5.4	5.4	0.78164	.	0.101931	0.64402	D	0.000001	T	0.67599	0.2910	M	0.74467	2.265	0.80722	D	1	D;D;D	0.71674	0.993;0.996;0.998	P;P;D	0.63703	0.877;0.851;0.917	T	0.70550	-0.4841	10	0.72032	D	0.01	.	19.5422	0.95278	0.0:1.0:0.0:0.0	.	415;415;415	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	F	415	ENSP00000331983:S415F	ENSP00000331983:S415F	S	+	2	0	LRRC16A	25603341	1.000000	0.71417	0.956000	0.39512	0.974000	0.67602	6.980000	0.76160	2.695000	0.91970	0.561000	0.74099	TCT	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040045.2		+	ENST00000329474.6	Missense_Mutation	SNP	6 : 25495362 - 25495362 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	44
CPT1B	1375	broad.mit.edu	37	22	51011411	51011411	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51011411G>A	ENST00000360719.2	-	11	1382	c.1245C>T	c.(1243-1245)gcC>gcT	p.A415A	CPT1B_ENST00000312108.7_Silent_p.A415A|CPT1B_ENST00000395650.2_Silent_p.A415A|CPT1B_ENST00000440709.1_Intron|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Silent_p.A212A|CPT1B_ENST00000457250.1_Silent_p.A381A|CPT1B_ENST00000405237.3_Silent_p.A415A	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	415					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CGAAGAAAGCGGCACGCTCGA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(170;988 1933 25577 30295 48163)							NA				0													97	91	93			NA	NA	22		NA											NA				51011411		2203	4300	6503	SO:0001819	synonymous_variant			U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560	1375	1375			2329	protein-coding gene	gene with protein product		601987			NA	9070950	Standard	NM_152246	NM_152245	NA	Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1245C>T	22.37:g.51011411G>A		NA	Q13389|Q99655|Q9BY90	37	CCDS14098.1																																																																																			CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317264.5		-	ENST00000360719.2	Silent	SNP	22 : 51011411 - 51011411 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	506	132
TRAP1	10131	broad.mit.edu	37	16	3740954	3740954	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3740954C>A	ENST00000246957.5	-	2	209	c.121G>T	c.(121-123)Gcc>Tcc	p.A41S	TRAP1_ENST00000538171.1_Intron	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	41					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				CCCAACTGGGCTGTGGTCCTC	0.527		NA									OREG0023572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	65	67			NA	NA	16		NA											NA				3740954		2197	4300	6497	SO:0001583	missense			AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602	10131	10131		Heat shock proteins / HSPC	16264	protein-coding gene	gene with protein product		606219			NA	10652318, 7876093	Standard	NM_016292	NM_016292	NA	Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.121G>T	16.37:g.3740954C>A	ENSP00000246957:p.Ala41Ser	613	D3DUC8|O43642|O75235|Q9UHL5	37	CCDS10508.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129480	0.56721	.	.	ENSG00000126602	ENST00000246957	T	0.14022	2.54	5.61	3.63	0.41609	.	1.396980	0.04856	N	0.443279	T	0.11537	0.0281	L	0.29908	0.895	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.31916	-0.9926	10	0.36615	T	0.2	-15.4687	5.0127	0.14321	0.1384:0.5165:0.2688:0.0764	.	41	Q12931	TRAP1_HUMAN	S	41	ENSP00000246957:A41S	ENSP00000246957:A41S	A	-	1	0	TRAP1	3680955	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.159000	0.10056	0.703000	0.31848	0.655000	0.94253	GCC	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251586.2		-	ENST00000246957.5	Missense_Mutation	SNP	16 : 3740954 - 3740954 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	314	52
RCC2	55920	broad.mit.edu	37	1	17748709	17748709	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17748709C>A	ENST00000375436.4	-	6	921	c.734G>T	c.(733-735)aGc>aTc	p.S245I	RCC2_ENST00000375433.3_Missense_Mutation_p.S245I	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	245					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		CTGCGCGGGGCTGGGAACAGC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	88	81			NA	NA	1		NA											NA				17748709		2203	4300	6503	SO:0001583	missense				CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051	55920	55920			30297	protein-coding gene	gene with protein product		609587			NA	10819331, 12919680	Standard	NM_018715	NM_018715	NA	Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.734G>T	1.37:g.17748709C>A	ENSP00000364585:p.Ser245Ile	NA	Q8IVL9|Q9BSN6|Q9NPV8	37	CCDS181.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.849906	0.71603	.	.	ENSG00000179051	ENST00000375436;ENST00000375433	D;D	0.83914	-1.78;-1.78	5.4	5.4	0.78164	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.87233	0.6126	L	0.51422	1.61	0.80722	D	1	D	0.56521	0.976	P	0.59357	0.856	D	0.85421	0.1143	10	0.35671	T	0.21	-32.6291	18.1041	0.89515	0.0:1.0:0.0:0.0	.	245	Q9P258	RCC2_HUMAN	I	245	ENSP00000364585:S245I;ENSP00000364582:S245I	ENSP00000364582:S245I	S	-	2	0	RCC2	17621296	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	2.253000	0.43205	2.711000	0.92665	0.561000	0.74099	AGC	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007144.1		-	ENST00000375436.4	Missense_Mutation	SNP	1 : 17748709 - 17748709 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	699	71
CLEC4F	165530	broad.mit.edu	37	2	71043855	71043855	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71043855C>A	ENST00000426626.1	-	4	681	c.658G>T	c.(658-660)Gaa>Taa	p.E220*	CLEC4F_ENST00000272367.2_Nonsense_Mutation_p.E220*			Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	220					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TTTGCATTTTCTAAGCCTCTG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(107;10 2157 6841 26035)							NA				0													84	82	83			NA	NA	2		NA											NA				71043855		2203	4300	6503	SO:0001587	stop_gained			AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672	165530	165530		C-type lectin domain containing	25357	protein-coding gene	gene with protein product			C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13	CLECSF13	NA	8889548, 1846367	Standard	NM_173535	NM_001258027	NA	Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000426626.1:c.658G>T	2.37:g.71043855C>A	ENSP00000390581:p.Glu220*	NA		37		.	.	.	.	.	.	.	.	.	.	C	13.72	2.322102	0.41096	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	.	.	.	2.42	1.52	0.23074	.	0.343745	0.21127	N	0.079714	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	5.3439	0.15998	0.0:0.8318:0.0:0.1682	.	.	.	.	X	220	.	ENSP00000272367:E220X	E	-	1	0	CLEC4F	70897363	0.002000	0.14202	0.110000	0.21437	0.340000	0.28889	0.282000	0.18829	0.575000	0.29434	0.313000	0.20887	GAA	CLEC4F-002	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000330185.2		-	ENST00000426626.1	Nonsense_Mutation	SNP	2 : 71043855 - 71043855 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	322	18
MAML1	9794	broad.mit.edu	37	5	179193073	179193073	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179193073C>A	ENST00000292599.3	+	2	1325	c.1062C>A	c.(1060-1062)ccC>ccA	p.P354P	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	354					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGTCAGCCCCGGGCGGACA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	37	36			NA	NA	5		NA											NA				179193073		2203	4300	6503	SO:0001819	synonymous_variant			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021	9794	9794			13632	protein-coding gene	gene with protein product	mastermind homolog	605424	mastermind (drosophila)-like 1		NA	11101851, 11390662	Standard	NM_014757	NM_014757	NA	Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.1062C>A	5.37:g.179193073C>A		NA	Q9NZ12	37	CCDS34315.1																																																																																			MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372316.2		+	ENST00000292599.3	Silent	SNP	5 : 179193073 - 179193073 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	416	74
IGSF1	3547	broad.mit.edu	37	X	130409168	130409168	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:130409168C>A	ENST00000370904.1	-	23	4160	c.3250G>T	c.(3250-3252)Gac>Tac	p.D1084Y	IGSF1_ENST00000370903.3_Missense_Mutation_p.D1098Y|IGSF1_ENST00000361420.3_Missense_Mutation_p.D1093Y|IGSF1_ENST00000370910.1_Missense_Mutation_p.D1084Y			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1093	Ig-like C2-type 11.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AATGTTGAGTCTGGCAGTTCC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	132	132			NA	NA	X		NA											NA				130409168		2203	4300	6503	SO:0001583	missense			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255	3547	3547		Immunoglobulin superfamily / Immunoglobulin-like domain containing	5948	protein-coding gene	gene with protein product		300137			NA	9521868, 9729118	Standard		NM_001555	NA	Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000370904.1:c.3250G>T	X.37:g.130409168C>A	ENSP00000359941:p.Asp1084Tyr	NA	B5MEG2|O15070|Q9NTC8	37	CCDS55490.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.838615	0.00573	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.02812	4.15;4.15;4.15;4.15	4.83	3.96	0.45880	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.616837	0.16303	N	0.220364	T	0.03695	0.0105	N	0.05467	-0.045	0.31995	N	0.604081	D;D;D	0.89917	0.998;0.993;1.0	D;D;D	0.87578	0.984;0.924;0.998	T	0.10382	-1.0632	10	0.02654	T	1	.	8.2379	0.31638	0.0:0.8894:0.0:0.1106	.	1084;537;1093	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	Y	1084;1093;1084;1098	ENSP00000359947:D1084Y;ENSP00000355010:D1093Y;ENSP00000359941:D1084Y;ENSP00000359940:D1098Y	ENSP00000355010:D1093Y	D	-	1	0	IGSF1	130236849	1.000000	0.71417	0.994000	0.49952	0.029000	0.11900	1.162000	0.31786	1.152000	0.42452	-0.215000	0.12644	GAC	IGSF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058286.1		-	ENST00000370904.1	Missense_Mutation	SNP	X : 130409168 - 130409168 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	862	263
GJA8	2703	broad.mit.edu	37	1	147381090	147381090	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147381090G>A	ENST00000369235.1	+	1	1008	c.1008G>A	c.(1006-1008)ccG>ccA	p.P336P	GJA8_ENST00000240986.4_Silent_p.P336P			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	336					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GCGAGGGGCCGCCTGCAGAGG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(76;1255 1795 8195 52096)							NA				0													27	27	27			NA	NA	1		NA											NA				147381090		2202	4299	6501	SO:0001819	synonymous_variant			U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634	2703	2703		Ion channels / Gap junction proteins (connexins)	4281	protein-coding gene	gene with protein product	connexin 50	600897	gap junction protein, alpha 8, 50kD (connexin 50), gap junction protein, alpha 8, 50kDa (connexin 50)	CAE1, CZP1, CAE	NA	9497259, 7796604	Standard	NM_005267	NM_005267	NA	Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.1008G>A	1.37:g.147381090G>A		NA	A7L5M5|Q5VVN9|Q9NP25	37	CCDS30834.1																																																																																			GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060647.1		+	ENST00000369235.1	Silent	SNP	1 : 147381090 - 147381090 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	112	28
ZFYVE16	9765	broad.mit.edu	37	5	79733552	79733552	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79733552G>T	ENST00000338008.5	+	3	1228	c.1048G>T	c.(1048-1050)Gac>Tac	p.D350Y	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.D350Y|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.D350Y	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	350					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		AAAAAGTTTAGACCTTAAGGA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(150;1452 1854 16018 17851 37292)							NA				0													115	110	112			NA	NA	5		NA											NA				79733552		2203	4300	6503	SO:0001583	missense			AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319	9765	9765		Zinc fingers, FYVE domain containing, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	20756	protein-coding gene	gene with protein product	endofin, protein phosphatase 1, regulatory subunit 69	608880			NA	11546807	Standard	NM_014733	NM_014733	NA	Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.1048G>T	5.37:g.79733552G>T	ENSP00000337159:p.Asp350Tyr	NA	O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	37	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	G	9.773	1.173172	0.21704	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.43294	0.95;0.95;0.95	5.1	4.21	0.49690	.	0.363134	0.23307	N	0.049620	T	0.45357	0.1338	L	0.34521	1.04	0.09310	N	1	P;D	0.67145	0.944;0.996	P;P	0.59703	0.835;0.862	T	0.24799	-1.0150	10	0.52906	T	0.07	-0.1643	8.6938	0.34282	0.0835:0.1541:0.7624:0.0	.	350;350	Q7Z3T8-3;Q7Z3T8	.;ZFY16_HUMAN	Y	350	ENSP00000337159:D350Y;ENSP00000423663:D350Y;ENSP00000426848:D350Y	ENSP00000337159:D350Y	D	+	1	0	ZFYVE16	79769308	0.641000	0.27251	0.025000	0.17156	0.104000	0.19210	1.474000	0.35398	1.229000	0.43630	0.563000	0.77884	GAC	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226982.2		+	ENST00000338008.5	Missense_Mutation	SNP	5 : 79733552 - 79733552 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	449	94
ARSE	415	broad.mit.edu	37	X	2861177	2861177	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2861177G>A	ENST00000381134.3	-	8	1121	c.1055C>T	c.(1054-1056)tCg>tTg	p.S352L	ARSE_ENST00000545496.1_Missense_Mutation_p.S377L|ARSE_ENST00000540563.1_Missense_Mutation_p.S307L	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	352					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCCGTGATCCGACGTAAAATA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	76	79			NA	NA	X		NA											NA				2861177		2203	4300	6503	SO:0001583	missense			X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399	415	415		Arylsulfatase family	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1	NA	7720070	Standard	NM_000047	NM_000047	NA	Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.1055C>T	X.37:g.2861177G>A	ENSP00000370526:p.Ser352Leu	NA	Q53FT2|Q53FU8	37	CCDS14122.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008822	0.75046	.	.	ENSG00000157399	ENST00000540563;ENST00000545496;ENST00000381134	D;D;D	0.96619	-4.07;-4.07;-4.07	3.66	3.66	0.41972	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99055	0.9676	H	0.99855	4.85	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.986;0.992	D	0.98419	1.0576	10	0.87932	D	0	.	14.0326	0.64624	0.0:0.0:1.0:0.0	.	307;377;352	F5H324;F5GYY5;P51690	.;.;ARSE_HUMAN	L	307;377;352	ENSP00000438198:S307L;ENSP00000441417:S377L;ENSP00000370526:S352L	ENSP00000370526:S352L	S	-	2	0	ARSE	2871177	1.000000	0.71417	0.012000	0.15200	0.002000	0.02628	7.542000	0.82095	1.608000	0.50180	0.600000	0.82982	TCG	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055643.1		-	ENST00000381134.3	Missense_Mutation	SNP	X : 2861177 - 2861177 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	194	63
DNAH10	196385	broad.mit.edu	37	12	124303737	124303737	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124303737G>A	ENST00000409039.3	+	22	3611	c.3586G>A	c.(3586-3588)Gag>Aag	p.E1196K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1196	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCAGATAGAGGAGTTTGCAAA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	154	156			NA	NA	12		NA											NA				124303737		1913	4128	6041	SO:0001583	missense			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653	196385	196385		Axonemal dyneins	2941	protein-coding gene	gene with protein product		605884	dynein, axonemal, heavy polypeptide 10		NA		Standard		NM_207437	NA	Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.3586G>A	12.37:g.124303737G>A	ENSP00000386770:p.Glu1196Lys	NA	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	5.950	0.359278	0.11239	.	.	ENSG00000197653	ENST00000409039	T	0.21191	2.02	5.18	1.15	0.20763	.	.	.	.	.	T	0.09730	0.0239	N	0.11698	0.16	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.41305	-0.9516	9	0.13470	T	0.59	.	6.9428	0.24502	0.1514:0.2907:0.5579:0.0	.	1196	Q8IVF4	DYH10_HUMAN	K	1196	ENSP00000386770:E1196K	ENSP00000386770:E1196K	E	+	1	0	DNAH10	122869690	0.055000	0.20627	0.000000	0.03702	0.064000	0.16182	0.915000	0.28638	-0.064000	0.13043	0.455000	0.32223	GAG	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335420.3		+	ENST00000409039.3	Missense_Mutation	SNP	12 : 124303737 - 124303737 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	123	21
ZNF345	25850	broad.mit.edu	37	19	37368910	37368910	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37368910C>A	ENST00000529555.1	+	2	1966	c.1178C>A	c.(1177-1179)aCt>aAt	p.T393N	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.T393N|ZNF345_ENST00000420450.1_Missense_Mutation_p.T393N			Q14585	ZN345_HUMAN	zinc finger protein 345	393					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTAATCCATACTGGTGAAAGA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	79	81			NA	NA	19		NA											NA				37368910		2203	4300	6503	SO:0001583	missense			X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247	25850	25850		Zinc fingers, C2H2-type	16367	protein-coding gene	gene with protein product					NA	7865130	Standard		NM_003419	NA	Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.1178C>A	19.37:g.37368910C>A	ENSP00000431202:p.Thr393Asn	NA		37	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714819	0.48622	.	.	ENSG00000251247	ENST00000420450;ENST00000529555;ENST00000344705	T;T	0.26067	1.76;1.76	3.93	1.46	0.22682	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26484	0.0647	L	0.46670	1.46	0.24034	N	0.996108	P	0.34826	0.471	B	0.38683	0.279	T	0.26224	-1.0109	9	0.72032	D	0.01	.	11.4064	0.49900	0.0:0.6517:0.3483:0.0	.	393	Q14585	ZN345_HUMAN	N	393;393;157	ENSP00000431216:T393N;ENSP00000431202:T393N	ENSP00000442320:T157N	T	+	2	0	ZNF345	42060750	0.001000	0.12720	0.997000	0.53966	0.616000	0.37450	1.183000	0.32041	0.915000	0.36847	0.561000	0.74099	ACT	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388258.1		+	ENST00000529555.1	Missense_Mutation	SNP	19 : 37368910 - 37368910 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	350	65
LIMK1	3984	broad.mit.edu	37	7	73523282	73523282	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73523282C>T	ENST00000418310.1	+	10	1392	c.1290C>T	c.(1288-1290)atC>atT	p.I430I	LIMK1_ENST00000336180.2_Silent_p.I400I|LIMK1_ENST00000538333.3_Silent_p.I366I			P53667	LIMK1_HUMAN	LIM domain kinase 1	400	Protein kinase.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				TCAAGTTCATCGGGGTGCTCT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	96	105			NA	NA	7		NA											NA				73523282		2203	4300	6503	SO:0001819	synonymous_variant			D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683	3984	3984			6613	protein-coding gene	gene with protein product		601329			NA	8673124, 8812460	Standard	NM_002314	NM_002314	NA	Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000418310.1:c.1290C>T	7.37:g.73523282C>T		NA	D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	37																																																																																				LIMK1-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000348344.1		+	ENST00000418310.1	Silent	SNP	7 : 73523282 - 73523282 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	328	48
EPB41L4A	64097	broad.mit.edu	37	5	111598231	111598231	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:111598231T>G	ENST00000261486.5	-	7	878	c.602A>C	c.(601-603)aAa>aCa	p.K201T		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	201	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CTCCAGGGATTTGGCAGTCCT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	126	126			NA	NA	5		NA											NA				111598231		1912	4116	6028	SO:0001583	missense			AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595	64097	64097			13278	protein-coding gene	gene with protein product		612141			NA	10874211	Standard		XM_005272043	NA	Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.602A>C	5.37:g.111598231T>G	ENSP00000261486:p.Lys201Thr	NA	A4FUI6	37	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.021391	0.75275	.	.	ENSG00000129595	ENST00000261486	T	0.78481	-1.18	5.54	3.16	0.36331	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);FERM conserved site (1);	0.101615	0.64402	D	0.000004	D	0.87819	0.6273	M	0.89030	3	0.37051	D	0.897587	D	0.89917	1.0	D	0.77557	0.99	D	0.88791	0.3278	10	0.87932	D	0	.	8.969	0.35894	0.0:0.1533:0.0:0.8467	.	201	Q9HCS5	E41LA_HUMAN	T	201	ENSP00000261486:K201T	ENSP00000261486:K201T	K	-	2	0	EPB41L4A	111626130	1.000000	0.71417	0.983000	0.44433	0.997000	0.91878	1.525000	0.35953	0.489000	0.27749	0.533000	0.62120	AAA	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370969.1		-	ENST00000261486.5	Missense_Mutation	SNP	5 : 111598231 - 111598231 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	603	111
NCEH1	57552	broad.mit.edu	37	3	172365759	172365759	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:172365759A>C	ENST00000475381.1	-	2	517	c.284T>G	c.(283-285)tTt>tGt	p.F95C	NCEH1_ENST00000538775.1_Missense_Mutation_p.F127C|NCEH1_ENST00000543711.1_Intron|NCEH1_ENST00000273512.3_Missense_Mutation_p.F127C			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	95					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						AGGGCCTTCAAACACTCTGAC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	78	81			NA	NA	3		NA											NA				172365759		2203	4300	6503	SO:0001583	missense			AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959	57552	57552			29260	protein-coding gene	gene with protein product		613234	arylacetamide deacetylase-like 1	AADACL1	NA	10718198	Standard	NM_020792	NM_001146276	NA	Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.284T>G	3.37:g.172365759A>C	ENSP00000418571:p.Phe95Cys	NA	B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|Q86WZ1|Q9P2I4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.12|18.12	3.553240|3.553240	0.65425|0.65425	.|.	.|.	ENSG00000144959|ENSG00000144959	ENST00000475381;ENST00000538775;ENST00000273512|ENST00000424772	T;T;T|.	0.61158|.	0.13;0.13;0.13|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.095705|.	0.64402|.	D|.	0.000001|.	T|T	0.71953|0.71953	0.3401|0.3401	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.75484|.	0.986;0.942|.	T|T	0.72364|0.72364	-0.4316|-0.4316	10|5	0.87932|.	D|.	0|.	-23.8409|-23.8409	12.1056|12.1056	0.53810|0.53810	0.8715:0.0:0.0:0.1285|0.8715:0.0:0.0:0.1285	.|.	127;95|.	F5H7K4;Q6PIU2|.	.;NCEH1_HUMAN|.	C|V	95;127;127|118	ENSP00000418571:F95C;ENSP00000442464:F127C;ENSP00000273512:F127C|.	ENSP00000273512:F127C|.	F|L	-|-	2|1	0|2	NCEH1|NCEH1	173848453|173848453	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.566000|0.566000	0.35808|0.35808	5.542000|5.542000	0.67218|0.67218	2.285000|2.285000	0.76669|0.76669	0.533000|0.533000	0.62120|0.62120	TTT|TTG	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000346367.3		-	ENST00000475381.1	Missense_Mutation	SNP	3 : 172365759 - 172365759 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	307	57
GFRA1	2674	broad.mit.edu	37	10	117884933	117884933	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:117884933C>T	ENST00000369236.1	-	4	806	c.554G>A	c.(553-555)cGc>cAc	p.R185H	GFRA1_ENST00000544592.1_Missense_Mutation_p.R69H|GFRA1_ENST00000355422.6_Missense_Mutation_p.R190H|GFRA1_ENST00000439649.3_Missense_Mutation_p.R185H	NM_145793.3	NP_665736.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	190					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		GTGGCACTTGCGGCGGTTGCA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(128;329 1725 45498 46808 50759)							NA				0								C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	74	62	66		554,569,554	5.8	1	10		66	0,8600		0,0,4300	no	missense,missense,missense	GFRA1	NM_001145453.1,NM_005264.4,NM_145793.3	29,29,29	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	185/461,190/466,185/461	117884933	1,13005	2203	4300	6503	SO:0001583	missense			AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892	2674	2674			4243	protein-coding gene	gene with protein product		601496		GDNFRA	NA	9465905, 9545641	Standard	NM_145793	NM_005264	NA	Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000369236.1:c.554G>A	10.37:g.117884933C>T	ENSP00000358239:p.Arg185His	NA	A8KA21|O15507|O43912	37	CCDS7593.1	.	.	.	.	.	.	.	.	.	.	C	33	5.273572	0.95459	2.27E-4	0.0	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000544592;ENST00000369234	T;T	0.63913	-0.07;-0.07	5.85	5.85	0.93711	GDNF/GAS1 (2);	0.000000	0.85682	D	0.000000	T	0.75649	0.3878	L	0.49455	1.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.965	T	0.71411	-0.4601	10	0.36615	T	0.2	-33.0593	20.1775	0.98187	0.0:1.0:0.0:0.0	.	190;185	P56159;P56159-2	GFRA1_HUMAN;.	H	190;185;185;69;185	ENSP00000358239:R185H;ENSP00000442179:R69H	ENSP00000347591:R185H	R	-	2	0	GFRA1	117874923	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	4.851000	0.62896	2.771000	0.95319	0.561000	0.74099	CGC	GFRA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050511.1		-	ENST00000369236.1	Missense_Mutation	SNP	10 : 117884933 - 117884933 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	59
STAB1	23166	broad.mit.edu	37	3	52554039	52554039	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52554039G>A	ENST00000321725.6	+	51	5391	c.5315G>A	c.(5314-5316)cGa>cAa	p.R1772Q		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1772	FAS1 6.				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)		GCCGCCTTTCGAGCTCTGCCT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	GLN/ARG	0,4406		0,0,2203	56	58	57		5315	-8.2	0	3		57	1,8599	1.2+/-3.3	0,1,4299	no	missense	STAB1	NM_015136.2	43	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	1772/2571	52554039	1,13005	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.5315G>A	3.37:g.52554039G>A	ENSP00000312946:p.Arg1772Gln	NA	A7E297|Q8IUH0|Q8IUH1|Q93072	37	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	0.074	-1.196156	0.01594	0.0	1.16E-4	ENSG00000010327	ENST00000321725	D	0.89617	-2.54	5.67	-8.25	0.01025	FAS1 domain (5);	1.077420	0.07224	N	0.861373	T	0.71056	0.3295	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.65747	-0.6093	10	0.02654	T	1	.	18.2521	0.90007	0.3326:0.0:0.6674:0.0	.	1772	Q9NY15	STAB1_HUMAN	Q	1772	ENSP00000312946:R1772Q	ENSP00000312946:R1772Q	R	+	2	0	STAB1	52529079	0.000000	0.05858	0.023000	0.16930	0.012000	0.07955	-0.792000	0.04594	-1.389000	0.02090	-1.008000	0.02478	CGA	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351380.2		+	ENST00000321725.6	Missense_Mutation	SNP	3 : 52554039 - 52554039 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	277	39
RIOK3	8780	broad.mit.edu	37	18	21053554	21053554	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21053554G>A	ENST00000581585.1	+	8	1082	c.929G>A	c.(928-930)cGc>cAc	p.R310H	RIOK3_ENST00000577501.1_Missense_Mutation_p.R326H|RIOK3_ENST00000339486.3_Missense_Mutation_p.R326H			O14730	RIOK3_HUMAN	RIO kinase 3	326	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAGATCATCCGCATGTGGGCA	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	56	58			NA	NA	18		NA											NA				21053554		2203	4300	6503	SO:0001583	missense			AF013591	CCDS11877.1	18q11.2	2012-12-10	2012-12-10	2003-06-25	ENSG00000101782	ENSG00000101782	8780	8780			11451	protein-coding gene	gene with protein product		603579	sudD (suppressor of bimD6, Aspergillus nidulans) homolog, RIO kinase 3 (yeast)	SUDD	NA	9602165	Standard	NM_003831	NM_003831	NA	Approved		uc002kui.4	O14730	OTTHUMG00000131813	ENST00000581585.1:c.929G>A	18.37:g.21053554G>A	ENSP00000463660:p.Arg310His	NA	Q8IXN9	37		.	.	.	.	.	.	.	.	.	.	G	17.02	3.282646	0.59867	.	.	ENSG00000101782	ENST00000339486	T	0.07567	3.18	5.05	5.05	0.67936	RIO kinase (1);Protein kinase-like domain (1);RIO-like kinase (1);	0.000000	0.85682	D	0.000000	T	0.07143	0.0181	L	0.35288	1.05	0.80722	D	1	P;P;P	0.44260	0.55;0.796;0.83	B;B;B	0.30943	0.084;0.074;0.122	T	0.32079	-0.9920	10	0.41790	T	0.15	.	18.4658	0.90753	0.0:0.0:1.0:0.0	.	310;326;326	B4E1Q4;O14730-2;O14730	.;.;RIOK3_HUMAN	H	326	ENSP00000341874:R326H	ENSP00000341874:R326H	R	+	2	0	RIOK3	19307552	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.941000	0.87700	2.350000	0.79820	0.579000	0.79373	CGC	RIOK3-008	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000445291.1		+	ENST00000581585.1	Missense_Mutation	SNP	18 : 21053554 - 21053554 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	217	46
PAQR9	344838	broad.mit.edu	37	3	142681742	142681742	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142681742G>A	ENST00000340634.3	-	1	436	c.437C>T	c.(436-438)tCg>tTg	p.S146L		NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	146						integral to membrane	receptor activity			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CAGACGCAGCGACAGGCAGCT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	43	43			NA	NA	3		NA											NA				142681742		2203	4300	6503	SO:0001583	missense			AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582	344838	344838			30131	protein-coding gene	gene with protein product		614580			NA		Standard	NM_198504	NM_198504	NA	Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.437C>T	3.37:g.142681742G>A	ENSP00000341564:p.Ser146Leu	NA	Q147T6	37	CCDS3128.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225335	0.79576	.	.	ENSG00000188582	ENST00000340634	T	0.37235	1.21	4.62	4.62	0.57501	.	0.095555	0.44285	D	0.000468	T	0.61887	0.2383	M	0.75447	2.3	0.50813	D	0.999891	D	0.89917	1.0	D	0.85130	0.997	T	0.67875	-0.5557	10	0.87932	D	0	-20.5751	17.8396	0.88711	0.0:0.0:1.0:0.0	.	146	Q6ZVX9	PAQR9_HUMAN	L	146	ENSP00000341564:S146L	ENSP00000341564:S146L	S	-	2	0	PAQR9	144164432	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.610000	0.82949	2.277000	0.76020	0.462000	0.41574	TCG	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354538.1		-	ENST00000340634.3	Missense_Mutation	SNP	3 : 142681742 - 142681742 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	207	25
SNCAIP	9627	broad.mit.edu	37	5	121785597	121785597	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121785597G>A	ENST00000261367.7	+	11	3219	c.1791G>A	c.(1789-1791)caG>caA	p.Q597Q	CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379538.3_Silent_p.Q184Q|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000261368.8_Silent_p.Q550Q|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000414317.2_Silent_p.Q152Q|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379536.2_Silent_p.Q490Q|SNCAIP_ENST00000379533.2_Silent_p.Q597Q|SNCAIP_ENST00000542191.1_Silent_p.Q108Q|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000504884.2_3'UTR			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	550					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TAGAAGCCCAGAAATCAGAGG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	157	157			NA	NA	5		NA											NA				121785597		2203	4300	6503	SO:0001819	synonymous_variant			AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692	9627	9627		Ankyrin repeat domain containing	11139	protein-coding gene	gene with protein product	synphilin	603779			NA	10319874	Standard		NM_001242935	NA	Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261367.7:c.1791G>A	5.37:g.121785597G>A		NA	D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	37																																																																																				SNCAIP-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000250889.2		+	ENST00000261367.7	Silent	SNP	5 : 121785597 - 121785597 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	722	147
RIPK4	54101	broad.mit.edu	37	21	43161678	43161678	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43161678G>A	ENST00000332512.3	-	8	1739	c.1675C>T	c.(1675-1677)Cga>Tga	p.R559*	RIPK4_ENST00000542057.1_Nonsense_Mutation_p.R496*|RIPK4_ENST00000352483.2_Nonsense_Mutation_p.R607*|RIPK4_ENST00000544709.1_Nonsense_Mutation_p.R496*	NM_020639.2	NP_065690.2	Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	559						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.R559*(1)|p.R607*(1)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCCACGCCTCGGCGCAGCAGG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Nonsense(2)	lung(2)											42	39	40			NA	NA	21		NA											NA				43161678		2203	4299	6502	SO:0001587	stop_gained			AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421	54101	54101		Ankyrin repeat domain containing	496	protein-coding gene	gene with protein product	protein kinase C-associated kinase, PKC-delta-interacting protein kinase	605706	ankyrin repeat domain 3	ANKRD3	NA	10830953	Standard	NM_020639	NM_020639	NA	Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000332512.3:c.1675C>T	21.37:g.43161678G>A	ENSP00000332454:p.Arg559*	NA		37	CCDS13675.1	.	.	.	.	.	.	.	.	.	.	G	37	6.258731	0.97421	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057;ENST00000330470	.	.	.	4.99	2.93	0.34026	.	0.088033	0.44688	D	0.000429	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5631	6.8025	0.23758	0.0:0.1277:0.4676:0.4047	.	.	.	.	X	559;607;496;496;298	.	ENSP00000330975:R298X	R	-	1	2	RIPK4	42034747	1.000000	0.71417	0.187000	0.23214	0.881000	0.50899	5.506000	0.66993	1.055000	0.40461	0.655000	0.94253	CGA	RIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195204.1		-	ENST00000332512.3	Nonsense_Mutation	SNP	21 : 43161678 - 43161678 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	75
AREL1	9870	broad.mit.edu	37	14	75140748	75140748	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75140748G>T	ENST00000356357.4	-	9	1662	c.1147C>A	c.(1147-1149)Cca>Aca	p.P383T	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1	NA											NA						TTTGTTCCTGGACACACTCGG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	74	73			NA	NA	14		NA											NA				75140748		1899	4119	6018	SO:0001583	missense			AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682	9870	9870			20363	protein-coding gene	gene with protein product		615380	KIAA0317	KIAA0317	NA	9205841, 23479728	Standard	NM_014821	XM_006720344	NA	Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.1147C>A	14.37:g.75140748G>T	ENSP00000348714:p.Pro383Thr	NA		37	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349756	0.82132	.	.	ENSG00000119682	ENST00000356357;ENST00000543377;ENST00000556202	T;T	0.53423	0.62;0.62	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.67581	0.2908	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79108	0.991;0.992	T	0.69312	-0.5178	10	0.66056	D	0.02	.	17.1942	0.86888	0.0:0.0:1.0:0.0	.	383;383	O15033-2;O15033	.;K0317_HUMAN	T	383;222;222	ENSP00000348714:P383T;ENSP00000452101:P222T	ENSP00000348714:P383T	P	-	1	0	KIAA0317	74210501	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.284000	0.95882	2.720000	0.93068	0.650000	0.86243	CCA	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335517.2		-	ENST00000356357.4	Missense_Mutation	SNP	14 : 75140748 - 75140748 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	146	23
MYH6	4624	broad.mit.edu	37	14	23873579	23873579	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23873579T>G	ENST00000356287.3	-	7	690	c.661A>C	c.(661-663)Atc>Ctc	p.I221L	MYH6_ENST00000405093.3_Missense_Mutation_p.I221L			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	221	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCCTGGATGATCTGGTCCTCC	0.612		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	14		NA											NA				23873579		2203	4300	6503	SO:0001583	missense			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616	4624	4624		Myosins / Myosin superfamily : Class II	7576	protein-coding gene	gene with protein product	cardiomyopathy, hypertrophic 1	160710	myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)		NA	2144212	Standard		NM_002471	NA	Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.661A>C	14.37:g.23873579T>G	ENSP00000348634:p.Ile221Leu	NA	A2RTX1|Q13943|Q14906|Q14907	37	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	21.7	4.194954	0.78902	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.88046	-2.33;-2.33	3.21	3.21	0.36854	Myosin head, motor domain (2);	.	.	.	.	D	0.92570	0.7640	M	0.66297	2.02	0.52501	D	0.99995	P;P	0.35107	0.484;0.484	D;D	0.65010	0.931;0.931	D	0.92625	0.6111	9	0.72032	D	0.01	.	11.6217	0.51121	0.0:0.0:0.0:1.0	.	221;221	D9YZU2;P13533	.;MYH6_HUMAN	L	221	ENSP00000386041:I221L;ENSP00000348634:I221L	ENSP00000348634:I221L	I	-	1	0	MYH6	22943419	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.573000	0.82421	1.467000	0.48044	0.247000	0.18012	ATC	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071796.3		-	ENST00000356287.3	Missense_Mutation	SNP	14 : 23873579 - 23873579 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	700	118
ZNF329	79673	broad.mit.edu	37	19	58639295	58639295	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58639295G>T	ENST00000598312.1	-	4	1809	c.1576C>A	c.(1576-1578)Ctt>Att	p.L526I	ZNF329_ENST00000358067.4_Missense_Mutation_p.L526I	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TGTCGAACAAGGGATGAGCTC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													189	165	173			NA	NA	19		NA											NA				58639295		2203	4300	6503	SO:0001583	missense			AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894	79673	79673		Zinc fingers, C2H2-type	14209	protein-coding gene	gene with protein product					NA		Standard	NM_024620	XM_006723381	NA	Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.1576C>A	19.37:g.58639295G>T	ENSP00000470008:p.Leu526Ile	NA	B3KR32|Q9H9R7	37	CCDS12972.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.479140	0.44044	.	.	ENSG00000181894	ENST00000358067;ENST00000500161	T;T	0.74947	-0.89;-0.89	4.34	4.34	0.51931	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34828	N	0.003647	D	0.86855	0.6033	M	0.90650	3.135	0.21984	N	0.999434	D	0.76494	0.999	D	0.81914	0.995	T	0.78846	-0.2043	10	0.87932	D	0	-12.963	10.724	0.46057	0.0923:0.0:0.9077:0.0	.	526	Q86UD4	ZN329_HUMAN	I	526	ENSP00000350773:L526I;ENSP00000439527:L526I	ENSP00000350773:L526I	L	-	1	0	ZNF329	63331107	1.000000	0.71417	0.886000	0.34754	0.354000	0.29330	4.611000	0.61162	2.717000	0.92951	0.655000	0.94253	CTT	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466724.1		-	ENST00000598312.1	Missense_Mutation	SNP	19 : 58639295 - 58639295 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	715	120
CRB1	23418	broad.mit.edu	37	1	197396679	197396679	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197396679T>C	ENST00000367399.2	+	5	1888	c.1888T>C	c.(1888-1890)Ttt>Ctt	p.F630L	CRB1_ENST00000535699.1_Missense_Mutation_p.F673L|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000367400.3_Missense_Mutation_p.F742L|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367397.1_Missense_Mutation_p.F123L|CRB1_ENST00000544212.1_Missense_Mutation_p.F223L	NM_001193640.1	NP_001180569.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	742	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CCTCTCCATGTTTGTCCGAAC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	75	79			NA	NA	1		NA											NA				197396679		2203	4300	6503	SO:0001583	missense				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376	23418	23418			2343	protein-coding gene	gene with protein product		604210	crumbs (Drosophila) homolog 1, crumbs homolog 1 (Drosophila)	RP12	NA	10373321, 10508521	Standard	NM_201253	NM_201253	NA	Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367399.2:c.1888T>C	1.37:g.197396679T>C	ENSP00000356369:p.Phe630Leu	NA	A2A308|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0	37	CCDS53454.1	.	.	.	.	.	.	.	.	.	.	T	16.80	3.223179	0.58668	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21	5.75	3.43	0.39272	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	.	.	.	.	T	0.81327	0.4799	L	0.55990	1.75	0.58432	D	0.999994	D;D;P;D	0.76494	0.999;0.99;0.889;0.997	D;D;B;D	0.77557	0.99;0.979;0.399;0.97	T	0.75952	-0.3136	9	0.10111	T	0.7	.	10.1145	0.42583	0.0:0.1356:0.0:0.8644	.	673;630;391;742	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	L	673;742;630;223;123;391	ENSP00000438786:F673L;ENSP00000356370:F742L;ENSP00000356369:F630L;ENSP00000444556:F223L;ENSP00000356367:F123L	ENSP00000356367:F123L	F	+	1	0	CRB1	195663302	1.000000	0.71417	0.983000	0.44433	0.153000	0.21895	4.662000	0.61525	0.438000	0.26450	-0.297000	0.09499	TTT	CRB1-005	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280653.1		+	ENST00000367399.2	Missense_Mutation	SNP	1 : 197396679 - 197396679 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	287	66
UTP20	27340	broad.mit.edu	37	12	101731892	101731892	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101731892T>G	ENST00000261637.4	+	30	3879	c.3705T>G	c.(3703-3705)gtT>gtG	p.V1235V		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1235					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TGACCAATGTTTTTGCAATTC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	135	135			NA	NA	12		NA											NA				101731892		2203	4300	6503	SO:0001819	synonymous_variant			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800	27340	27340			17897	protein-coding gene	gene with protein product	down regulated in metastasis	612822			NA	9673349, 15590835, 12837249	Standard	NM_014503	NM_014503	NA	Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.3705T>G	12.37:g.101731892T>G		NA	Q9H3H4	37	CCDS9081.1																																																																																			UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408242.1		+	ENST00000261637.4	Silent	SNP	12 : 101731892 - 101731892 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	435	10
PHIP	55023	broad.mit.edu	37	6	79724895	79724895	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79724895C>T	ENST00000275034.4	-	15	1595	c.1428G>A	c.(1426-1428)ccG>ccA	p.P476P		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	476					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TAGGATCGAACGGGTGTGGTT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	93	96			NA	NA	6		NA											NA				79724895		2203	4300	6503	SO:0001819	synonymous_variant			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247	55023	55023		WD repeat domain containing, DDB1 and CUL4 associated factors	15673	protein-coding gene	gene with protein product	DDB1 and CUL4 associated factor 14	612870		WDR11	NA	11018022	Standard		NM_017934	NA	Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.1428G>A	6.37:g.79724895C>T		NA	B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	37	CCDS4987.1																																																																																			PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041297.2		-	ENST00000275034.4	Silent	SNP	6 : 79724895 - 79724895 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	255	38
TTN	7273	broad.mit.edu	37	2	179419672	179419672	+	Missense_Mutation	SNP	C	C	T	rs143193258	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179419672C>T	ENST00000589042.1	-	331	88738	c.88514G>A	c.(88513-88515)cGc>cAc	p.R29505H	TTN_ENST00000342992.6_Missense_Mutation_p.R26937H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R20440H|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R20565H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R20632H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R27864H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27864	Fibronectin type-III 115.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTATTAAGGCGATCGGCATC	0.428		NA											C	1	5e-04	NA	0.0028	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.876	LOWCOV	NA	NA	7e-04	SNP								NA				0													90	86	87			NA	NA	2		NA											NA				179419672		1937	4135	6072	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.88514G>A	2.37:g.179419672C>T	ENSP00000467141:p.Arg29505His	NA	E7ET18	37	CCDS59435.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	18.48	3.633142	0.67015	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.66	5.66	0.87406	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65101	0.2659	M	0.62154	1.92	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.65389	-0.6180	9	0.87932	D	0	.	20.1041	0.97884	0.0:1.0:0.0:0.0	.	20440;20565;20632;27864	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	26937;20440;20632;20565;20437	ENSP00000343764:R26937H;ENSP00000434586:R20440H;ENSP00000340554:R20632H;ENSP00000352154:R20565H	ENSP00000340554:R20632H	R	-	2	0	TTN	179127918	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	7.776000	0.85560	2.826000	0.97356	0.655000	0.94253	CGC	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179419672 - 179419672 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	232	49
KMT2E	55904	broad.mit.edu	37	7	104742339	104742339	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:104742339G>T	ENST00000311117.3	+	17	2439	c.1894G>T	c.(1894-1896)Gca>Tca	p.A632S	KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000257745.4_Missense_Mutation_p.A632S|KMT2E_ENST00000334877.4_Missense_Mutation_p.A632S	NM_182931.2	NP_891847.1			lysine (K)-specific methyltransferase 2E	NA											NA						TTAGGAACAAGCAAAAGAAGA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	35	34			NA	NA	7		NA											NA				104742339		2202	4298	6500	SO:0001583	missense			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483	55904	55904		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	18541	protein-coding gene	gene with protein product		608444	myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)	MLL5	NA	9218106, 7672722	Standard		XM_005250493	NA	Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.1894G>T	7.37:g.104742339G>T	ENSP00000312379:p.Ala632Ser	NA		37	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.317550	0.40996	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.91521	-2.86;-2.51;-2.86	5.93	4.88	0.63580	.	0.507283	0.21612	N	0.071778	D	0.85208	0.5644	L	0.38175	1.15	0.80722	D	1	B	0.27853	0.191	B	0.26770	0.073	T	0.80231	-0.1468	10	0.13470	T	0.59	.	16.0082	0.80377	0.0741:0.0:0.9259:0.0	.	632	Q8IZD2	MLL5_HUMAN	S	632;632;632;552;632	ENSP00000312379:A632S;ENSP00000335599:A632S;ENSP00000257745:A632S	ENSP00000257745:A632S	A	+	1	0	MLL5	104529575	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.559000	0.60796	2.826000	0.97356	0.655000	0.94253	GCA	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348697.1		+	ENST00000311117.3	Missense_Mutation	SNP	7 : 104742339 - 104742339 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	248	15
SENP8	123228	broad.mit.edu	37	15	72432323	72432323	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72432323C>T	ENST00000542035.2	+	2	692	c.359C>T	c.(358-360)tCc>tTc	p.S120F	SENP8_ENST00000544411.1_Missense_Mutation_p.S120F|SENP8_ENST00000340912.4_Missense_Mutation_p.S120F|SENP8_ENST00000544171.1_Missense_Mutation_p.S120F	NM_001166340.1	NP_001159812.1	Q96LD8	SENP8_HUMAN	SUMO/sentrin specific peptidase family member 8	120	Protease.				proteolysis		cysteine-type peptidase activity|protein binding			breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						CATTATGATTCCCATAGCAGG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	62	61			NA	NA	15		NA											NA				72432323		2199	4297	6496	SO:0001583	missense			BC031411	CCDS10240.1	15q22.33	2005-08-17	2005-08-17	2004-01-30	ENSG00000166192	ENSG00000166192	123228	123228			22992	protein-coding gene	gene with protein product	NEDD8-specific protease 1, sentrin/SUMO-specific protease SENP8, deneddylase 1	608659	protease, cysteine, 2 (NEDD8 specific), SUMO/sentrin specific protease family member 8	PRSC2	NA	12730221, 12759362	Standard	NM_145204	NM_145204	NA	Approved	NEDP1, DEN1, HsT17512	uc021spt.1	Q96LD8	OTTHUMG00000133441	ENST00000542035.2:c.359C>T	15.37:g.72432323C>T	ENSP00000446057:p.Ser120Phe	NA	Q96QA4	37	CCDS10240.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892924	0.91889	.	.	ENSG00000166192	ENST00000542035;ENST00000544411;ENST00000340912;ENST00000544171	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92186	0.5755	10	0.87932	D	0	-17.7189	19.8681	0.96839	0.0:1.0:0.0:0.0	.	120	Q96LD8	SENP8_HUMAN	F	120	ENSP00000446057:S120F;ENSP00000441753:S120F;ENSP00000340505:S120F;ENSP00000439415:S120F	ENSP00000340505:S120F	S	+	2	0	SENP8	70219377	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.684000	0.84104	2.764000	0.94973	0.643000	0.83706	TCC	SENP8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000420036.1		+	ENST00000542035.2	Missense_Mutation	SNP	15 : 72432323 - 72432323 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	73
RIBC1	158787	broad.mit.edu	37	X	53456828	53456828	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53456828G>A	ENST00000375327.3	+	6	724	c.571G>A	c.(571-573)Gcc>Acc	p.A191T	RIBC1_ENST00000414955.2_Missense_Mutation_p.A76T	NM_001031745.2	NP_001026915.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1	191										lung(2)	2						GCTGCGCCTCGCCATGGATGC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	57	63			NA	NA	X		NA											NA				53456828		2203	4300	6503	SO:0001583	missense			AK057345	CCDS14353.1, CCDS35299.1, CCDS59168.1	Xp11.23	2006-04-12			ENSG00000158423	ENSG00000158423	158787	158787			26537	protein-coding gene	gene with protein product					NA		Standard	NM_144968	NM_144968	NA	Approved	FLJ32783	uc004dsk.4	Q8N443	OTTHUMG00000021615	ENST00000375327.3:c.571G>A	X.37:g.53456828G>A	ENSP00000364476:p.Ala191Thr	NA	Q5H931|Q96A80	37	CCDS35299.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.610732	0.46527	.	.	ENSG00000158423	ENST00000414955;ENST00000375327	T;T	0.23348	1.91;1.91	5.6	5.6	0.85130	.	0.265038	0.36482	N	0.002566	T	0.30008	0.0751	M	0.69823	2.125	0.09310	N	0.999999	D;P	0.53151	0.958;0.835	B;B	0.41466	0.358;0.147	T	0.37596	-0.9699	10	0.23302	T	0.38	-2.4089	15.48	0.75517	0.0:0.0:1.0:0.0	.	76;191	E9PDU2;Q8N443	.;RIBC1_HUMAN	T	76;191	ENSP00000401463:A76T;ENSP00000364476:A191T	ENSP00000364476:A191T	A	+	1	0	RIBC1	53473553	0.919000	0.31177	0.454000	0.27019	0.407000	0.30961	4.732000	0.62029	2.364000	0.80123	0.384000	0.25694	GCC	RIBC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056762.1		+	ENST00000375327.3	Missense_Mutation	SNP	X : 53456828 - 53456828 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	147	46
ATP11A	23250	broad.mit.edu	37	13	113478723	113478723	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113478723C>T	ENST00000487903.1	+	10	944	c.856C>T	c.(856-858)Cga>Tga	p.R286*	ATP11A_ENST00000375630.2_Nonsense_Mutation_p.R286*|ATP11A_ENST00000283558.8_Nonsense_Mutation_p.R286*|ATP11A_ENST00000375645.3_Nonsense_Mutation_p.R286*			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	286					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)				ATCTCAGAAGCGATCTGCCGT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	96	97			NA	NA	13		NA											NA				113478723		2203	4300	6503	SO:0001587	stop_gained			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.856C>T	13.37:g.113478723C>T	ENSP00000420387:p.Arg286*	NA	Q5VXT2	37	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427410	0.83667	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	.	.	.	4.77	1.86	0.25419	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6097	0.28122	0.465:0.4582:0.0:0.0768	.	.	.	.	X	286	.	ENSP00000283558:R286X	R	+	1	2	ATP11A	112526724	1.000000	0.71417	0.031000	0.17742	0.125000	0.20455	1.787000	0.38704	0.102000	0.17638	0.455000	0.32223	CGA	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045834.3		+	ENST00000487903.1	Nonsense_Mutation	SNP	13 : 113478723 - 113478723 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	20
TXNDC11	51061	broad.mit.edu	37	16	11792005	11792005	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11792005G>A	ENST00000356957.3	-	8	1271	c.1164C>T	c.(1162-1164)gcC>gcT	p.A388A	TXNDC11_ENST00000283033.5_Silent_p.A361A			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	388					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GATGACTTTCGGCCAGGGGAT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	117	117			NA	NA	16		NA											NA				11792005		2197	4300	6497	SO:0001819	synonymous_variant			BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066	51061	51061			28030	protein-coding gene	gene with protein product	EF-hand binding protein 1				NA	8619474, 9110174	Standard	NM_015914	XM_005255346	NA	Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.1164C>T	16.37:g.11792005G>A		NA	O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	37																																																																																				TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000437057.1		-	ENST00000356957.3	Silent	SNP	16 : 11792005 - 11792005 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	684	147
FOXD2	2306	broad.mit.edu	37	1	47904305	47904305	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47904305G>T	ENST00000334793.5	+	1	2617	c.498G>T	c.(496-498)gaG>gaT	p.E166D		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	166					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			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		ACTACCGGGAGAAGTTCCCCG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ASP/GLU	0,4406		0,0,2203	50	63	59		498	4.2	1	1		59	2,8598	1.2+/-3.3	0,2,4298	no	missense	FOXD2	NM_004474.3	45	0,2,6501	TT,TG,GG	NA	0.0233,0.0,0.0154	possibly-damaging	166/496	47904305	2,13004	2203	4300	6503	SO:0001583	missense			AF042832	CCDS30708.1	1p34-p32	2008-02-05			ENSG00000186564	ENSG00000186564	2306	2306		Forkhead boxes	3803	protein-coding gene	gene with protein product		602211		FKHL17	NA	9403061, 12621056	Standard	NM_004474	NM_004474	NA	Approved	FREAC9	uc001crm.3	O60548	OTTHUMG00000007950	ENST00000334793.5:c.498G>T	1.37:g.47904305G>T	ENSP00000335493:p.Glu166Asp	NA	Q5SVZ3	37	CCDS30708.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354318	0.61293	0.0	2.33E-4	ENSG00000186564	ENST00000334793	D	0.95588	-3.75	4.19	4.19	0.49359	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	U	0.000000	D	0.92100	0.7496	N	0.04245	-0.25	0.50632	D	0.999888	B	0.24963	0.115	B	0.44224	0.444	D	0.90273	0.4309	10	0.46703	T	0.11	.	15.2933	0.73882	0.0:0.0:1.0:0.0	.	166	O60548	FOXD2_HUMAN	D	166	ENSP00000335493:E166D	ENSP00000335493:E166D	E	+	3	2	FOXD2	47676892	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.357000	0.52277	1.861000	0.53984	0.430000	0.28490	GAG	FOXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021831.1		+	ENST00000334793.5	Missense_Mutation	SNP	1 : 47904305 - 47904305 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	614	74
ABCG5	64240	broad.mit.edu	37	2	44051455	44051455	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44051455T>A	ENST00000405322.1	-	5	1404	c.508A>T	c.(508-510)Aat>Tat	p.N170Y	ABCG5_ENST00000260645.1_Missense_Mutation_p.N341Y|ABCG5_ENST00000543989.1_Intron			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	341	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTTTCAATATTCTTCAAAGTT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	130	127			NA	NA	2		NA											NA				44051455		2203	4300	6503	SO:0001583	missense			T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075	64240	64240		ATP binding cassette transporters / subfamily G	13886	protein-coding gene	gene with protein product	sterolin 1	605459			NA	11099417, 11452359	Standard	NM_022436	NM_022436	NA	Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000405322.1:c.508A>T	2.37:g.44051455T>A	ENSP00000384513:p.Asn170Tyr	NA		37		.	.	.	.	.	.	.	.	.	.	T	14.81	2.646928	0.47258	.	.	ENSG00000138075	ENST00000260645;ENST00000405322	D;T	0.90563	-2.69;-1.3	5.61	3.28	0.37604	.	3.690330	0.00597	N	0.000373	D	0.85492	0.5709	N	0.19112	0.55	0.80722	D	1	D;P	0.57899	0.981;0.845	B;B	0.42062	0.374;0.36	T	0.73107	-0.4087	10	0.62326	D	0.03	.	8.2634	0.31799	0.0:0.2363:0.0:0.7637	.	170;341	E7EX35;Q9H222	.;ABCG5_HUMAN	Y	341;170	ENSP00000260645:N341Y;ENSP00000384513:N170Y	ENSP00000260645:N341Y	N	-	1	0	ABCG5	43904959	0.060000	0.20803	0.738000	0.30950	0.601000	0.36947	0.565000	0.23578	0.520000	0.28426	0.533000	0.62120	AAT	ABCG5-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000326201.1		-	ENST00000405322.1	Missense_Mutation	SNP	2 : 44051455 - 44051455 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	911	166
ABI3BP	25890	broad.mit.edu	37	3	100565266	100565266	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100565266G>T	ENST00000471714.1	-	20	1803	c.1694C>A	c.(1693-1695)tCt>tAt	p.S565Y	ABI3BP_ENST00000284322.5_Missense_Mutation_p.S516Y|ABI3BP_ENST00000495063.1_Missense_Mutation_p.S565Y|ABI3BP_ENST00000383691.4_5'UTR			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	516	Pro-rich.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						AGGTTTCAGAGAAATAAATTG	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	55	56			NA	NA	3		NA											NA				100565266		1799	4064	5863	SO:0001583	missense			AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175	25890	25890		Fibronectin type III domain containing	17265	protein-coding gene	gene with protein product	target of Nesh-SH3	606279			NA	11501947	Standard		NM_015429	NA	Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000471714.1:c.1694C>A	3.37:g.100565266G>T	ENSP00000420524:p.Ser565Tyr	NA	B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	14.82|14.82|14.82	2.650312|2.650312|2.650312	0.47362|0.47362|0.47362	.|.|.	.|.|.	ENSG00000154175|ENSG00000154175|ENSG00000154175	ENST00000466947|ENST00000495591;ENST00000528490;ENST00000533855|ENST00000471714;ENST00000284322;ENST00000495063	.|.|T;T;T	.|.|0.59224	.|.|0.28;0.28;0.28	5.58|5.58|5.58	5.58|5.58|5.58	0.84498|0.84498|0.84498	.|.|.	.|.|0.864209	.|.|0.10324	.|.|N	.|.|0.688353	T|T|T	0.60314|0.60314|0.60314	0.2259|0.2259|0.2259	L|L|L	0.40543|0.40543|0.40543	1.245|1.245|1.245	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;P	.|.|0.58620	.|.|0.983;0.94	.|.|P;P	.|.|0.58873	.|.|0.847;0.548	T|T|T	0.49143|0.49143|0.49143	-0.8970|-0.8970|-0.8970	5|5|10	.|.|0.02654	.|.|T	.|.|1	-0.434|-0.434|-0.434	12.4487|12.4487|12.4487	0.55666|0.55666|0.55666	0.0775:0.0:0.9225:0.0|0.0775:0.0:0.9225:0.0|0.0775:0.0:0.9225:0.0	.|.|.	.|.|565;516	.|.|Q5JPC9;Q7Z7G0	.|.|.;TARSH_HUMAN	L|I|Y	3|3;33;194|565;516;565	.|.|ENSP00000420524:S565Y;ENSP00000284322:S516Y;ENSP00000433993:S565Y	.|.|ENSP00000284322:S516Y	F|L|S	-|-|-	3|1|2	2|0|0	ABI3BP|ABI3BP|ABI3BP	102047956|102047956|102047956	0.999000|0.999000|0.999000	0.42202|0.42202|0.42202	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.925000|0.925000|0.925000	0.55904|0.55904|0.55904	3.106000|3.106000|3.106000	0.50322|0.50322|0.50322	2.787000|2.787000|2.787000	0.95880|0.95880|0.95880	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	TTC|CTC|TCT	ABI3BP-002	NOVEL	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000353261.1		-	ENST00000471714.1	Missense_Mutation	SNP	3 : 100565266 - 100565266 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	42	6
TWSG1	57045	broad.mit.edu	37	18	9359999	9359999	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9359999C>T	ENST00000262120.5	+	3	344	c.153C>T	c.(151-153)ggC>ggT	p.G51G	TWSG1_ENST00000581641.1_Silent_p.G51G	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	51	Cys-rich.									breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						CGGGAGAAGGCAATTGCTCCT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	109	112			NA	NA	18		NA											NA				9359999		2203	4300	6503	SO:0001819	synonymous_variant			AA486291	CCDS11844.1	18p11.3	2013-10-03	2013-10-03		ENSG00000128791	ENSG00000128791	57045	57045			12429	protein-coding gene	gene with protein product		605049	twisted gastrulation homolog 1 (Drosophila)		NA	11260715	Standard		NM_020648	NA	Approved	TSG	uc002knz.3	Q9GZX9	OTTHUMG00000131597	ENST00000262120.5:c.153C>T	18.37:g.9359999C>T		NA	B2RE08|D3DUH9|Q8NBI7|Q96K46	37	CCDS11844.1																																																																																			TWSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254480.2		+	ENST00000262120.5	Silent	SNP	18 : 9359999 - 9359999 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	419	81
OR6X1	390260	broad.mit.edu	37	11	123624553	123624553	+	Missense_Mutation	SNP	C	C	T	rs140203672	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123624553C>T	ENST00000327930.2	-	1	700	c.674G>A	c.(673-675)cGa>cAa	p.R225Q		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGAAGGAATTCGTAGGATTGC	0.473		NA											C	2	9e-04	NA	0.0028	2184	NA	1	,	,	NA	2e-04	0.0013	NA	NA	9e-04	1	LOWCOV,EXOME	NA	NA	0.0025	SNP								NA				0								C	GLN/ARG	2,4402	4.2+/-10.8	0,2,2200	100	88	92		674	-3.5	0	11	dbSNP_134	92	9,8589	7.1+/-27.0	2,5,4292	yes	missense	OR6X1	NM_001005188.1	43	2,7,6492	TT,TC,CC	NA	0.1047,0.0454,0.0846	benign	225/313	123624553	11,12991	2202	4299	6501	SO:0001583	missense			AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931	390260	390260		GPCR / Class A : Olfactory receptors	14737	protein-coding gene	gene with protein product					NA		Standard	NM_001005188	NM_001005188	NA	Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.674G>A	11.37:g.123624553C>T	ENSP00000333724:p.Arg225Gln	NA	B9EGW9|Q6IFA0	37	CCDS31695.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	7.787	0.710773	0.15239	4.54E-4	0.001047	ENSG00000221931	ENST00000327930	T	0.00231	8.49	4.37	-3.5	0.04710	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00210	0.0006	M	0.72353	2.195	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.14531	-1.0469	9	0.52906	T	0.07	-0.7425	10.4512	0.44524	0.0:0.3946:0.0:0.6054	.	225	Q8NH79	OR6X1_HUMAN	Q	225	ENSP00000333724:R225Q	ENSP00000333724:R225Q	R	-	2	0	OR6X1	123129763	0.000000	0.05858	0.000000	0.03702	0.205000	0.24178	-2.044000	0.01411	-0.914000	0.03827	-0.143000	0.13931	CGA	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387436.1		-	ENST00000327930.2	Missense_Mutation	SNP	11 : 123624553 - 123624553 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	591	88
ZIC4	84107	broad.mit.edu	37	3	147108846	147108846	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147108846C>T	ENST00000491672.1	-	3	700	c.258G>A	c.(256-258)ccG>ccA	p.P86P	ZIC4_ENST00000525172.2_Silent_p.P342P|ZIC4_ENST00000383075.3_Silent_p.P292P|ZIC4_ENST00000473123.1_Silent_p.P292P|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000484399.1_Silent_p.P292P|ZIC4_ENST00000425731.3_Silent_p.P330P	NM_001243256.1	NP_001230185.1	Q8N9L1	ZIC4_HUMAN	Zic family member 4	292						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AGCTGGGCGGCGGCGAGCGCC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	40	37			NA	NA	3		NA											NA				147108846		2181	4281	6462	SO:0001819	synonymous_variant			AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963	84107	84107		Zinc fingers, C2H2-type	20393	protein-coding gene	gene with protein product		608948	zinc finger protein of the cerebellum 4		NA		Standard		NM_001168378	NA	Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000491672.1:c.258G>A	3.37:g.147108846C>T		NA	A0AVA2|B2RMQ8|Q4G157|Q9BZ94	37	CCDS58857.1																																																																																			ZIC4-009	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355512.1		-	ENST00000491672.1	Silent	SNP	3 : 147108846 - 147108846 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	390	76
PYGL	5836	broad.mit.edu	37	14	51382068	51382068	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51382068G>A	ENST00000216392.7	-	11	1721	c.1389C>T	c.(1387-1389)atC>atT	p.I463I	PYGL_ENST00000532462.1_Silent_p.I463I|PYGL_ENST00000544180.2_Silent_p.I429I	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	463					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	p.I463I(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TAGTCTTCACGATGTCTGAGT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											263	226	239			NA	NA	14		NA											NA				51382068		2203	4300	6503	SO:0001819	synonymous_variant				CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	5836	5836	2.4.1.1	Glycogen phosphorylases	9725	protein-coding gene	gene with protein product	Hers disease, glycogen storage disease type VI, glycogen phosphorylase, liver form	613741	phosphorylase, glycogen; liver		NA	2877458	Standard	NM_002863	NM_002863	NA	Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.1389C>T	14.37:g.51382068G>A		NA	A6NDQ4|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	37	CCDS32080.1																																																																																			PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390654.3		-	ENST00000216392.7	Silent	SNP	14 : 51382068 - 51382068 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	805	152
SPTA1	6708	broad.mit.edu	37	1	158631186	158631186	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158631186A>G	ENST00000368147.4	-	18	2658	c.2478T>C	c.(2476-2478)atT>atC	p.I826I		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	NA					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTTTGGAAGCAATCAGGTCCT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	131	134			NA	NA	1		NA											NA				158631186		1877	4112	5989	SO:0001819	synonymous_variant			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554	6708	6708		EF-hand domain containing	11272	protein-coding gene	gene with protein product	elliptocytosis 2	182860	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		NA		Standard	NM_003126	NM_003126	NA	Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2478T>C	1.37:g.158631186A>G		NA	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	37	CCDS41423.1																																																																																			SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051851.3		-	ENST00000368147.4	Silent	SNP	1 : 158631186 - 158631186 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	498	70
STXBP5L	9515	broad.mit.edu	37	3	121126092	121126092	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121126092A>G	ENST00000273666.6	+	24	2933	c.2662A>G	c.(2662-2664)Aca>Gca	p.T888A	STXBP5L_ENST00000497029.1_Missense_Mutation_p.T862A|STXBP5L_ENST00000492541.1_Missense_Mutation_p.T888A|STXBP5L_ENST00000472879.1_Missense_Mutation_p.T864A|STXBP5L_ENST00000471454.1_Missense_Mutation_p.T864A	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	888					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TTTTATAGGTACATTCCTCTC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	51	52			NA	NA	3		NA											NA				121126092		1843	4096	5939	SO:0001583	missense			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087	9515	9515		WD repeat domain containing	30757	protein-coding gene	gene with protein product		609381			NA	10231032, 14767561	Standard		NM_014980	NA	Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2662A>G	3.37:g.121126092A>G	ENSP00000273666:p.Thr888Ala	NA	Q4G1B4|Q6PIC3	37	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	A	11.95	1.790740	0.31685	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91	5.13	3.98	0.46160	Lethal giant larvae (Lgl)-like, C-terminal (1);	0.164164	0.56097	D	0.000040	T	0.19886	0.0478	L	0.51853	1.615	0.40957	D	0.98459	B;B	0.13145	0.007;0.007	B;B	0.12156	0.007;0.007	T	0.07673	-1.0760	10	0.20046	T	0.44	-12.4704	6.2561	0.20874	0.7843:0.0:0.0748:0.1409	.	864;888	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	A	888;864;864;862;888;831	ENSP00000273666:T888A;ENSP00000420019:T864A;ENSP00000419627:T864A;ENSP00000420287:T862A;ENSP00000420666:T888A;ENSP00000420167:T831A	ENSP00000273666:T888A	T	+	1	0	STXBP5L	122608782	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.672000	0.54583	0.997000	0.38969	0.449000	0.29647	ACA	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355256.3		+	ENST00000273666.6	Missense_Mutation	SNP	3 : 121126092 - 121126092 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	298	42
LGSN	51557	broad.mit.edu	37	6	63990245	63990245	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:63990245C>T	ENST00000370657.4	-	4	1244	c.1211G>A	c.(1210-1212)cGg>cAg	p.R404Q	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	404					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	ATTTTCTATCCGGGTGCCTTT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	101	106	104		,1211	2.8	0.9	6		104	0,8600		0,0,4300	yes	utr-3,missense	LGSN	NM_001143940.1,NM_016571.2	,43	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	,benign	,404/510	63990245	1,13005	2203	4300	6503	SO:0001583	missense			AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166	51557	51557			21016	protein-coding gene	gene with protein product		611470	glutamate-ammonia ligase (glutamine synthetase) domain containing 1	GLULD1	NA	12107412	Standard	NM_016571	NM_016571	NA	Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1211G>A	6.37:g.63990245C>T	ENSP00000359691:p.Arg404Gln	NA	A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	37	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	C	7.113	0.576455	0.13686	2.27E-4	0.0	ENSG00000146166	ENST00000370657	D	0.89617	-2.54	5.96	2.76	0.32466	Glutamine synthetase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.249758	0.46145	N	0.000315	T	0.59211	0.2177	N	0.10837	0.055	0.80722	D	1	B	0.21688	0.059	B	0.15052	0.012	T	0.60182	-0.7313	10	0.56958	D	0.05	-9.1962	2.0179	0.03502	0.2492:0.3787:0.0:0.3721	.	404	Q5TDP6	LGSN_HUMAN	Q	404	ENSP00000359691:R404Q	ENSP00000359691:R404Q	R	-	2	0	LGSN	64048204	0.928000	0.31464	0.925000	0.36789	0.019000	0.09904	1.550000	0.36223	0.808000	0.34231	0.655000	0.94253	CGG	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041076.2		-	ENST00000370657.4	Missense_Mutation	SNP	6 : 63990245 - 63990245 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	682	94
RAB11FIP3	9727	broad.mit.edu	37	16	532617	532617	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:532617G>A	ENST00000262305.4	+	4	1384	c.996G>A	c.(994-996)gtG>gtA	p.V332V	RAB11FIP3_ENST00000450428.1_Silent_p.V36V|RAB11FIP3_ENST00000457159.1_Silent_p.V332V	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	332					cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				GCACCCTGGTGCACCCTGAGC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(160;2366 2595 4474 8099)							NA				0													80	64	69			NA	NA	16		NA											NA				532617		2202	4300	6502	SO:0001819	synonymous_variant			AB014565	CCDS32351.1, CCDS45364.1	16p13.3	2013-01-10			ENSG00000090565	ENSG00000090565	9727	9727		EF-hand domain containing	17224	protein-coding gene	gene with protein product		608738			NA	9734811, 11481332	Standard	NM_014700	NM_014700	NA	Approved	KIAA0665, Rab11-FIP3, eferin	uc002chf.3	O75154	OTTHUMG00000047843	ENST00000262305.4:c.996G>A	16.37:g.532617G>A		NA	B0QYI8|B0QYT8|B1AHQ0|B4DEI7|B4DZR6|Q4VXV7|Q7Z5E9|Q9H155|Q9H1G0|Q9NUI0	37	CCDS32351.1																																																																																			RAB11FIP3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109066.4		+	ENST00000262305.4	Silent	SNP	16 : 532617 - 532617 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	325	70
CER1	9350	broad.mit.edu	37	9	14720322	14720322	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14720322G>A	ENST00000380911.3	-	2	614	c.570C>T	c.(568-570)tgC>tgT	p.C190C		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	190	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		GAACAGACCCGCATTTCCCAA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	75	80			NA	NA	9		NA											NA				14720322		2203	4300	6503	SO:0001819	synonymous_variant			AF090189	CCDS6476.1	9p23-p22	2013-02-26	2013-02-26		ENSG00000147869	ENSG00000147869	9350	9350			1862	protein-coding gene	gene with protein product		603777	cerberus 1 (Xenopus laevis) homolog (cysteine knot superfamily), cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis)		NA	10049596	Standard	NM_005454	NM_005454	NA	Approved	DAND4	uc003zlj.3	O95813	OTTHUMG00000021022	ENST00000380911.3:c.570C>T	9.37:g.14720322G>A		NA	Q6ISJ1|Q6ISJ6|Q6ISQ2|Q6ISS1	37	CCDS6476.1																																																																																			CER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055453.1		-	ENST00000380911.3	Silent	SNP	9 : 14720322 - 14720322 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	240	47
GPR139	124274	broad.mit.edu	37	16	20043983	20043983	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20043983A>G	ENST00000570682.1	-	2	436	c.136T>C	c.(136-138)Ttg>Ctg	p.L46L		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	46						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						ATCACTGTCAAGATATTTGCT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	44	43			NA	NA	16		NA											NA				20043983		2203	4300	6503	SO:0001819	synonymous_variant			AY255545	CCDS32398.1	16p13.11	2012-08-21					124274	124274		GPCR / Class A : Orphans	19995	protein-coding gene	gene with protein product					NA	12679517	Standard	NM_001002911	XM_005255114	NA	Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.136T>C	16.37:g.20043983A>G		NA	Q86SP2|Q8TDU8	37	CCDS32398.1																																																																																			GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438522.1		-	ENST00000570682.1	Silent	SNP	16 : 20043983 - 20043983 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	198	9
PLEKHG2	64857	broad.mit.edu	37	19	39907596	39907596	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39907596C>T	ENST00000409794.3	+	7	1550	c.700C>T	c.(700-702)Ctg>Ttg	p.L234L	PLEKHG2_ENST00000409797.2_Silent_p.L234L|PLEKHG2_ENST00000458508.2_Silent_p.L175L|PLEKHG2_ENST00000425673.1_Silent_p.L234L|PLEKHG2_ENST00000378550.1_Silent_p.L234L	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	234	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GAGCTTCCTGCTGAAACCTGT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	34	33			NA	NA	19		NA											NA				39907596		2200	4297	6497	SO:0001819	synonymous_variant			AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924	64857	64857		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	29515	protein-coding gene	gene with protein product		611893			NA	11839748, 18045877	Standard	NM_022835	NM_022835	NA	Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.700C>T	19.37:g.39907596C>T		NA	B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	37	CCDS33022.2																																																																																			PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326802.1		+	ENST00000409794.3	Silent	SNP	19 : 39907596 - 39907596 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	435	18
CKAP2L	150468	broad.mit.edu	37	2	113514322	113514322	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113514322G>A	ENST00000302450.6	-	4	704	c.626C>T	c.(625-627)cCa>cTa	p.P209L	CKAP2L_ENST00000541405.1_Missense_Mutation_p.P44L	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	209						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						GTCAGTCTTTGGCTTACTTCT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	122	120			NA	NA	2		NA											NA				113514322		2203	4300	6503	SO:0001583	missense			AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607	150468	150468			26877	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152515	NM_152515	NA	Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.626C>T	2.37:g.113514322G>A	ENSP00000305204:p.Pro209Leu	NA	A8K915|Q53QF8|Q53RS8|Q8N1J8	37	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891306	0.52014	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.17854	2.25;3.2	5.0	5.0	0.66597	.	0.526312	0.17617	N	0.167865	T	0.23133	0.0559	M	0.73598	2.24	0.47994	D	0.999565	P	0.44044	0.825	P	0.44897	0.463	T	0.07809	-1.0753	10	0.02654	T	1	-1.9767	14.5097	0.67776	0.0:0.0:1.0:0.0	.	209	Q8IYA6	CKP2L_HUMAN	L	44;209	ENSP00000438763:P44L;ENSP00000305204:P209L	ENSP00000305204:P209L	P	-	2	0	CKAP2L	113230793	0.044000	0.20184	0.812000	0.32479	0.175000	0.22909	2.232000	0.43018	2.705000	0.92388	0.585000	0.79938	CCA	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254082.2		-	ENST00000302450.6	Missense_Mutation	SNP	2 : 113514322 - 113514322 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	264	37
CSMD1	64478	broad.mit.edu	37	8	2886927	2886927	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:2886927G>T	ENST00000520002.1	-	52	8327	c.7772C>A	c.(7771-7773)cCt>cAt	p.P2591H	CSMD1_ENST00000602723.1_Missense_Mutation_p.P2591H|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2590H|CSMD1_ENST00000602557.1_Missense_Mutation_p.P2591H|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2591H|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2590H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2591	Sushi 16.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTAGTAACCAGGACTGCAGCT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	72	73			NA	NA	8		NA											NA				2886927		2012	4174	6186	SO:0001583	missense					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117	64478	64478		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	14026	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 24	608397			NA		Standard	NM_033225	NM_033225	NA	Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7772C>A	8.37:g.2886927G>T	ENSP00000430733:p.Pro2591His	NA	Q0H0J5|Q96QU9|Q96RM4	37		.	.	.	.	.	.	.	.	.	.	G	22.1	4.241112	0.79912	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	4.88	4.88	0.63580	Complement control module (2);Sushi/SCR/CCP (3);	0.279436	0.29737	N	0.011325	D	0.83229	0.5209	M	0.84082	2.675	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.973	D;D;P	0.74348	0.964;0.983;0.891	D	0.85819	0.1384	10	0.72032	D	0.01	.	18.2377	0.89956	0.0:0.0:1.0:0.0	.	2591;2591;2590	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	H	2591;2591;2452;2590;2590	ENSP00000383047:P2591H;ENSP00000430733:P2591H;ENSP00000441462:P2590H;ENSP00000446243:P2590H	ENSP00000320445:P2452H	P	-	2	0	CSMD1	2874334	1.000000	0.71417	0.133000	0.22050	0.944000	0.59088	8.285000	0.89914	2.552000	0.86080	0.591000	0.81541	CCT	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000374500.2		-	ENST00000520002.1	Missense_Mutation	SNP	8 : 2886927 - 2886927 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	103	21
DCST1	149095	broad.mit.edu	37	1	155020587	155020587	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155020587G>A	ENST00000295542.1	+	16	1906	c.1810G>A	c.(1810-1812)Gcc>Acc	p.A604T	DCST1_ENST00000392480.1_Missense_Mutation_p.A604T|DCST1_ENST00000423025.2_Missense_Mutation_p.A579T|DCST1_ENST00000368419.2_Missense_Mutation_p.A604T	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	604						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GAAAAGAGCAGCCTTCACCAA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	72	72			NA	NA	1		NA											NA				155020587		2203	4300	6503	SO:0001583	missense			AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357	149095	149095			26539	protein-coding gene	gene with protein product					NA		Standard	NM_152494	NM_152494	NA	Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.1810G>A	1.37:g.155020587G>A	ENSP00000295542:p.Ala604Thr	NA	Q5T198|Q6P1W6|Q71S70|Q96M70	37	CCDS1083.1	.	.	.	.	.	.	.	.	.	.	g	18.59	3.657818	0.67586	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.21543	2.0;2.02;2.0;2.02	4.8	4.8	0.61643	.	0.593582	0.16979	N	0.191770	T	0.08133	0.0203	L	0.43923	1.385	0.32777	N	0.502987	P;P	0.36733	0.567;0.567	B;B	0.33196	0.159;0.159	T	0.14448	-1.0472	10	0.13470	T	0.59	-25.4752	15.3669	0.74529	0.0:0.0:1.0:0.0	.	579;604	E9PHV3;Q5T197	.;DCST1_HUMAN	T	604;604;579;604	ENSP00000295542:A604T;ENSP00000376271:A604T;ENSP00000387369:A579T;ENSP00000357404:A604T	ENSP00000295542:A604T	A	+	1	0	DCST1	153287211	0.943000	0.32029	0.997000	0.53966	0.853000	0.48598	2.215000	0.42862	2.481000	0.83766	0.586000	0.80456	GCC	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000099006.1		+	ENST00000295542.1	Missense_Mutation	SNP	1 : 155020587 - 155020587 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	282	74
DHX37	57647	broad.mit.edu	37	12	125434989	125434989	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125434989G>A	ENST00000544745.1	-	20	2561	c.2452C>T	c.(2452-2454)Cgg>Tgg	p.R818W	DHX37_ENST00000308736.2_Missense_Mutation_p.R1031W			Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1031							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CACAGCACCCGCCCCCGCTCG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG	0,4400		0,0,2200	23	24	24		3091	5.1	0.5	12		24	1,8597		0,1,4298	no	missense	DHX37	NM_032656.3	101	0,1,6498	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	1031/1158	125434989	1,12997	2200	4299	6499	SO:0001583	missense			AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990	57647	57647		DEAH-boxes	17210	protein-coding gene	gene with protein product			DEAD/DEAH box helicase DDX37	DDX37	NA	10819331	Standard	NM_032656	NM_032656	NA	Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000544745.1:c.2452C>T	12.37:g.125434989G>A	ENSP00000439009:p.Arg818Trp	NA	Q9BUI7|Q9P211	37		.	.	.	.	.	.	.	.	.	.	G	15.55	2.866819	0.51588	0.0	1.16E-4	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.03413	4.01;3.94	5.07	5.07	0.68467	.	0.149951	0.53938	D	0.000059	T	0.17789	0.0427	M	0.85299	2.745	0.47245	D	0.999366	D;D	0.71674	0.998;0.998	P;P	0.56916	0.809;0.623	T	0.01367	-1.1373	10	0.51188	T	0.08	12.7338	18.4511	0.90704	0.0:0.0:1.0:0.0	.	818;1031	F5H3Y4;Q8IY37	.;DHX37_HUMAN	W	1031;818	ENSP00000311135:R1031W;ENSP00000439009:R818W	ENSP00000311135:R1031W	R	-	1	2	DHX37	124000942	1.000000	0.71417	0.533000	0.28001	0.017000	0.09413	1.670000	0.37502	2.360000	0.80028	0.555000	0.69702	CGG	DHX37-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000400197.1		-	ENST00000544745.1	Missense_Mutation	SNP	12 : 125434989 - 125434989 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	156	24
LLGL2	3993	broad.mit.edu	37	17	73560573	73560573	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73560573G>A	ENST00000392550.3	+	10	1138	c.1021G>A	c.(1021-1023)Gca>Aca	p.A341T	LLGL2_ENST00000167462.5_Missense_Mutation_p.A341T|LLGL2_ENST00000577200.1_Missense_Mutation_p.A341T|LLGL2_ENST00000375227.4_Missense_Mutation_p.A341T|LLGL2_ENST00000578363.1_Missense_Mutation_p.A341T	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	341					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCTCACAGAGGCAGACCCTGC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	41	41			NA	NA	17		NA											NA				73560573		2202	4300	6502	SO:0001583	missense			X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350	3993	3993		WD repeat domain containing	6629	protein-coding gene	gene with protein product			lethal giant larvae (Drosophila) homolog 2		NA		Standard	NM_004524	XR_243659	NA	Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.1021G>A	17.37:g.73560573G>A	ENSP00000376333:p.Ala341Thr	NA	Q14521|Q9BR62	37	CCDS32733.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.588842	0.46110	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000375227;ENST00000545227	T;T;T	0.27256	2.77;2.77;1.68	4.89	4.89	0.63831	WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1);	0.496878	0.23571	N	0.046747	T	0.11537	0.0281	N	0.08118	0	0.29145	N	0.878746	B;B;B;B;B	0.28128	0.201;0.167;0.001;0.002;0.004	B;B;B;B;B	0.31946	0.138;0.085;0.004;0.007;0.005	T	0.21008	-1.0258	10	0.02654	T	1	-1.1271	10.0042	0.41946	0.0:0.1377:0.7013:0.161	.	330;330;341;341;341	B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3;Q6P1M3-3	.;.;.;L2GL2_HUMAN;.	T	341;341;341;330	ENSP00000167462:A341T;ENSP00000376333:A341T;ENSP00000364375:A341T	ENSP00000167462:A341T	A	+	1	0	LLGL2	71072168	1.000000	0.71417	0.994000	0.49952	0.110000	0.19582	4.457000	0.60088	2.543000	0.85770	0.561000	0.74099	GCA	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447633.1		+	ENST00000392550.3	Missense_Mutation	SNP	17 : 73560573 - 73560573 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	408	65
OR10T2	128360	broad.mit.edu	37	1	158368954	158368954	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158368954C>T	ENST00000334438.1	-	1	302	c.303G>A	c.(301-303)caG>caA	p.Q101Q		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AAAAGAACAGCTGGGTGGCAC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	106	105			NA	NA	1		NA											NA				158368954		2203	4300	6503	SO:0001819	synonymous_variant			AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306	128360	128360		GPCR / Class A : Olfactory receptors	14816	protein-coding gene	gene with protein product					NA		Standard	NM_001004475	NM_001004475	NA	Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.303G>A	1.37:g.158368954C>T		NA	Q6IF98	37	CCDS30895.1																																																																																			OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046371.1		-	ENST00000334438.1	Silent	SNP	1 : 158368954 - 158368954 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	335	27
SDK2	54549	broad.mit.edu	37	17	71398273	71398273	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71398273G>A	ENST00000392650.3	-	19	2492	c.2492C>T	c.(2491-2493)gCc>gTc	p.A831V	SDK2_ENST00000388726.3_Missense_Mutation_p.A831V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	831	Fibronectin type-III 3.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CGGCTCCCAGGCGATCAGCTG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	55	59			NA	NA	17		NA											NA				71398273		2203	4300	6503	SO:0001583	missense			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188	54549	54549		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	19308	protein-coding gene	gene with protein product		607217	sidekick homolog 2 (chicken)		NA	12230981, 15213259	Standard	NM_019064	NM_001144952	NA	Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.2492C>T	17.37:g.71398273G>A	ENSP00000376421:p.Ala831Val	NA	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	37	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276295	0.59649	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.55413	0.52;0.52;1.51	4.94	4.94	0.65067	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.055352	0.64402	D	0.000001	T	0.39600	0.1084	N	0.20401	0.57	0.52501	D	0.99995	B;B	0.16396	0.017;0.016	B;B	0.29785	0.067;0.107	T	0.22103	-1.0226	10	0.30078	T	0.28	.	12.0414	0.53454	0.0798:0.0:0.9202:0.0	.	831;831	Q58EX2-2;Q58EX2	.;SDK2_HUMAN	V	455;831;831;7;831	ENSP00000376421:A831V;ENSP00000373378:A831V;ENSP00000407098:A7V	ENSP00000324967:A831V	A	-	2	0	SDK2	68909868	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.414000	0.73318	2.470000	0.83445	0.499000	0.49734	GCC	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327598.2		-	ENST00000392650.3	Missense_Mutation	SNP	17 : 71398273 - 71398273 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	276	12
FLT4	2324	broad.mit.edu	37	5	180046743	180046743	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180046743C>T	ENST00000261937.6	-	18	2647	c.2569G>A	c.(2569-2571)Ggg>Agg	p.G857R	FLT4_ENST00000393347.3_Missense_Mutation_p.G857R|FLT4_ENST00000502649.1_Missense_Mutation_p.G857R	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	857	Protein kinase.		G -> R (in LMPH1A; loss of kinase activity).		positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	ACCACCTTCCCGAAGGCGCCG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(97;1075 1466 27033 27547 35871)							NA				0			GRCh37	CM001158	FLT4	M							54	57	56			NA	NA	5		NA											NA				180046743		2203	4298	6501	SO:0001583	missense			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2324	2324	2.7.10.1	Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	3767	protein-coding gene	gene with protein product		136352			NA	1319394	Standard		NM_002020	NA	Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.2569G>A	5.37:g.180046743C>T	ENSP00000261937:p.Gly857Arg	NA	Q16067|Q86W07	37	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504333	0.85176	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	D;D;D	0.95103	-3.61;-3.61;-3.61	4.28	4.28	0.50868	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.98175	0.9397	H	0.96430	3.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99612	1.0981	9	0.87932	D	0	.	17.2749	0.87112	0.0:1.0:0.0:0.0	.	667;857;857	E9PFB0;E9PD35;P35916	.;.;VGFR3_HUMAN	R	857;857;857;667	ENSP00000261937:G857R;ENSP00000377016:G857R;ENSP00000426057:G857R	ENSP00000261937:G857R	G	-	1	0	FLT4	179979349	1.000000	0.71417	0.998000	0.56505	0.628000	0.37860	7.645000	0.83430	2.379000	0.81126	0.563000	0.77884	GGG	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253527.4		-	ENST00000261937.6	Missense_Mutation	SNP	5 : 180046743 - 180046743 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	670	148
SP110	3431	broad.mit.edu	37	2	231077540	231077540	+	Silent	SNP	C	C	T	rs114550400	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231077540C>T	ENST00000258381.6	-	4	596	c.519G>A	c.(517-519)tcG>tcA	p.S173S	SP110_ENST00000258382.5_Silent_p.S173S|SP110_ENST00000486146.2_5'UTR|SP110_ENST00000540870.1_Silent_p.S179S|SP110_ENST00000392048.3_Silent_p.S173S|SP110_ENST00000358662.4_Silent_p.S173S|SP110_ENST00000338556.3_5'UTR	NM_080424.2	NP_536349	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	173			S -> L (in dbSNP:rs41552315).		interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		ATGGGCTGGGCGACTCACTCA	0.562		NA											C	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	LOWCOV,EXOME	NA	NA	8e-04	SNP								NA				0								C	,,,	0,4406		0,0,2203	168	163	165		537,519,519,519	-6.6	0	2	dbSNP_132	165	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SP110	NM_001185015.1,NM_004509.3,NM_004510.3,NM_080424.2	,,,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,,,	179/556,173/690,173/550,173/714	231077540	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899	3431	3431			5401	protein-coding gene	gene with protein product		604457	interferon-induced protein 41, 30kD	IFI41, IFI75	NA	7693701, 10388521	Standard	NM_080424	NM_080424	NA	Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000258381.6:c.519G>A	2.37:g.231077540C>T		NA	Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	37	CCDS2475.1																																																																																			SP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000332413.1		-	ENST00000258381.6	Silent	SNP	2 : 231077540 - 231077540 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	775	145
IL16	3603	broad.mit.edu	37	15	81592491	81592491	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81592491C>T	ENST00000394660.2	+	14	3184	c.2824C>T	c.(2824-2826)Cta>Tta	p.L942L	IL16_ENST00000394652.2_Silent_p.L241L|IL16_ENST00000302987.4_Silent_p.L942L	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	942				LRL -> PRE (in Ref. 4).	immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GGACCCGCTCCTAAGGCTGCT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	35	33			NA	NA	15		NA											NA				81592491		2203	4300	6503	SO:0001819	synonymous_variant			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349	3603	3603		Interleukins and interleukin receptors	5980	protein-coding gene	gene with protein product	prointerleukin 16, lymphocyte chemoattractant factor	603035	interleukin 16 (lymphocyte chemoattractant factor)		NA	9144227	Standard	NM_172217	NM_004513	NA	Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000394660.2:c.2824C>T	15.37:g.81592491C>T		NA	A6NM20|A8MU65|B9EGR6|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	37	CCDS53966.1																																																																																			IL16-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000291391.4		+	ENST00000394660.2	Silent	SNP	15 : 81592491 - 81592491 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	252	62
RELN	5649	broad.mit.edu	37	7	103138682	103138682	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103138682G>A	ENST00000428762.1	-	54	8844	c.8685C>T	c.(8683-8685)cgC>cgT	p.R2895R	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Silent_p.R2895R|RELN_ENST00000343529.5_Silent_p.R2895R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2895					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)		CACTGTCAAAGCGTTCCTTCA	0.373		NA											G	1	5e-04	NA	0.0028	2184	NA	1	,	,	NA	2e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	6e-04	SNP	NSCLC(146;835 1944 15585 22231 52158)							NA				0													99	87	91			NA	NA	7		NA											NA				103138682		2203	4300	6503	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.8685C>T	7.37:g.103138682G>A		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 : 103138682 - 103138682 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	423	66
C1orf116	79098	broad.mit.edu	37	1	207195513	207195513	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207195513G>A	ENST00000461135.2	-	3	1668	c.858C>T	c.(856-858)tcC>tcT	p.S286S	C1orf116_ENST00000359470.5_Silent_p.S532S	NM_001083924.1	NP_001077393.1	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	532						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					CCGTGCCCAGGGAGGCCGGGC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	32	31			NA	NA	1		NA											NA				207195513		2203	4300	6503	SO:0001819	synonymous_variant				CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795	79098	79098			28667	protein-coding gene	gene with protein product	specifically androgen-regulated gene	611680			NA	15525603, 9389513	Standard	NM_024115	NM_023938	NA	Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000461135.2:c.858C>T	1.37:g.207195513G>A		NA	C9JV41|Q658X3	37	CCDS44306.1																																																																																			C1orf116-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382045.1		-	ENST00000461135.2	Silent	SNP	1 : 207195513 - 207195513 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	203	58
FCGBP	8857	broad.mit.edu	37	19	40357450	40357450	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40357450G>A	ENST00000221347.6	-	34	15870	c.15863C>T	c.(15862-15864)aCg>aTg	p.T5288M		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5288	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACAGCCTCCGTTTTGCCATG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	112	105	107		15863	-8.9	0	19		107	0,8600		0,0,4300	no	missense	FCGBP	NM_003890.2	81	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging	5288/5406	40357450	1,13005	2203	4300	6503	SO:0001583	missense			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395	8857	8857			13572	protein-coding gene	gene with protein product	IgG Fc binding protein, Human Fc gamma BP				NA	9182547	Standard	NM_003890	NM_003890	NA	Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15863C>T	19.37:g.40357450G>A	ENSP00000221347:p.Thr5288Met	NA	O95784	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.082636	0.36758	2.27E-4	0.0	ENSG00000090920	ENST00000221347	T	0.60424	0.19	4.45	-8.91	0.00778	von Willebrand factor, type D domain (3);	3.408990	0.02289	U	0.070141	T	0.47284	0.1437	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.64877	0.93	T	0.59177	-0.7503	10	0.36615	T	0.2	.	5.0479	0.14494	0.1611:0.0:0.5152:0.3237	.	5288	Q9Y6R7	FCGBP_HUMAN	M	5288	ENSP00000221347:T5288M	ENSP00000221347:T5288M	T	-	2	0	FCGBP	45049290	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.973000	0.01500	-2.355000	0.00614	-1.261000	0.01458	ACG	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462507.1		-	ENST00000221347.6	Missense_Mutation	SNP	19 : 40357450 - 40357450 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	77
TCN1	6947	broad.mit.edu	37	11	59620480	59620480	+	Missense_Mutation	SNP	C	C	T	rs17851654		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59620480C>T	ENST00000257264.3	-	9	1374	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K		NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	424					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCCAAGTTTTCTCCATTGCGG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	146	147			NA	NA	11		NA											NA				59620480		2201	4295	6496	SO:0001583	missense			J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827	6947	6947			11652	protein-coding gene	gene with protein product	haptocorin, haptocorrin	189905			NA		Standard	NM_001062	NM_001062	NA	Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.1270G>A	11.37:g.59620480C>T	ENSP00000257264:p.Glu424Lys	NA	A8KAC5|Q8WV77	37	CCDS7978.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319130	0.60524	.	.	ENSG00000134827	ENST00000257264	T	0.30714	1.52	5.05	5.05	0.67936	.	0.192482	0.33290	N	0.005077	T	0.47581	0.1453	M	0.82193	2.58	0.25364	N	0.988751	D	0.54047	0.964	P	0.50314	0.637	T	0.51988	-0.8635	10	0.66056	D	0.02	7.206	13.7737	0.63039	0.0:1.0:0.0:0.0	.	424	P20061	TCO1_HUMAN	K	424	ENSP00000257264:E424K	ENSP00000257264:E424K	E	-	1	0	TCN1	59377056	0.665000	0.27466	0.932000	0.37286	0.107000	0.19398	2.374000	0.44274	2.620000	0.88729	0.650000	0.86243	GAA	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394503.1		-	ENST00000257264.3	Missense_Mutation	SNP	11 : 59620480 - 59620480 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	900	161
LGALS12	85329	broad.mit.edu	37	11	63283034	63283034	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63283034G>A	ENST00000415491.2	+	7	1144		c.e7-1		LGALS12_ENST00000394618.3_Splice_Site|LGALS12_ENST00000255684.5_Splice_Site|LGALS12_ENST00000425950.2_Splice_Site|LGALS12_ENST00000340246.5_Splice_Site	NM_001142537.1	NP_001136009.1	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	NA					apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						GCTTCCTGCAGTTTTACTGTG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	61	62			NA	NA	11		NA											NA				63283034		2201	4298	6499	SO:0001630	splice_region_variant			AF222695	CCDS8045.1, CCDS44633.1, CCDS44634.1, CCDS44635.1, CCDS53648.1	11q13	2011-08-04	2008-07-25		ENSG00000133317	ENSG00000133317	85329	85329		Lectins, galactoside-binding	15788	protein-coding gene	gene with protein product	galectin 12	606096			NA	11283015, 11435439	Standard	NM_033101	NM_033101	NA	Approved	GRIP1	uc001nxc.2	Q96DT0	OTTHUMG00000167807	ENST00000415491.2:c.531-1G>A	11.37:g.63283034G>A		NA	B2R9N2|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	37	CCDS44634.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648764	0.67358	.	.	ENSG00000133317	ENST00000255684;ENST00000394618;ENST00000340246;ENST00000415491;ENST00000425950	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5052	0.75731	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LGALS12	63039610	1.000000	0.71417	0.660000	0.29694	0.425000	0.31504	5.322000	0.65852	2.739000	0.93911	0.561000	0.74099	.	LGALS12-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396625.1	Intron	+	ENST00000415491.2	Splice_Site	SNP	11 : 63283034 - 63283034 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	429	43
PDE3A	5139	broad.mit.edu	37	12	20523167	20523167	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20523167C>T	ENST00000359062.3	+	1	989	c.949C>T	c.(949-951)Ccg>Tcg	p.P317S	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	317					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GCCCTGTATACCGAGGGAACA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	25	26			NA	NA	12		NA											NA				20523167		2201	4298	6499	SO:0001583	missense				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	5139	5139	3.1.4.17	Phosphodiesterases	8778	protein-coding gene	gene with protein product		123805			NA	1315035, 10679291	Standard		NM_000921	NA	Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.949C>T	12.37:g.20523167C>T	ENSP00000351957:p.Pro317Ser	NA	O60865|Q13348|Q17RD1	37	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739562	0.49045	.	.	ENSG00000172572	ENST00000359062	T	0.58358	0.34	4.58	4.58	0.56647	.	1.848920	0.02208	N	0.062869	T	0.37100	0.0991	N	0.16368	0.405	0.36182	D	0.849498	B	0.24132	0.098	B	0.17979	0.02	T	0.34675	-0.9819	10	0.02654	T	1	.	11.1176	0.48270	0.0:0.914:0.0:0.086	.	317	Q14432	PDE3A_HUMAN	S	317	ENSP00000351957:P317S	ENSP00000351957:P317S	P	+	1	0	PDE3A	20414434	0.997000	0.39634	0.983000	0.44433	0.938000	0.57974	5.258000	0.65479	2.529000	0.85273	0.650000	0.86243	CCG	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401756.2		+	ENST00000359062.3	Missense_Mutation	SNP	12 : 20523167 - 20523167 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	218	43
LHX1	3975	broad.mit.edu	37	17	35297966	35297966	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35297966G>A	ENST00000254457.5	+	3	1868	c.457G>A	c.(457-459)Gcc>Acc	p.A153T	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	153					cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				GCAGGACGACGCCAAGGACTC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	49	49			NA	NA	17		NA											NA				35297966		2203	4300	6503	SO:0001583	missense			U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706	3975	3975		Homeoboxes / LIM class	6593	protein-coding gene	gene with protein product		601999			NA	9212161	Standard	NM_005568	NM_005568	NA	Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.457G>A	17.37:g.35297966G>A	ENSP00000254457:p.Ala153Thr	NA	Q3MIW0	37	CCDS11316.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290446	0.59976	.	.	ENSG00000132130	ENST00000254457	D	0.90676	-2.71	4.26	4.26	0.50523	.	0.072744	0.53938	D	0.000042	T	0.81088	0.4750	N	0.08118	0	0.58432	D	0.999994	B;B	0.15141	0.012;0.009	B;B	0.11329	0.006;0.002	T	0.74968	-0.3483	10	0.18710	T	0.47	.	17.9822	0.89145	0.0:0.0:1.0:0.0	.	139;153	B4DPA6;P48742	.;LHX1_HUMAN	T	153	ENSP00000254457:A153T	ENSP00000254457:A153T	A	+	1	0	LHX1	32372079	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.524000	0.60552	2.648000	0.89879	0.561000	0.74099	GCC	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256704.3		+	ENST00000254457.5	Missense_Mutation	SNP	17 : 35297966 - 35297966 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	391	65
RREB1	6239	broad.mit.edu	37	6	7247318	7247318	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7247318C>T	ENST00000379938.2	+	12	5172	c.4635C>T	c.(4633-4635)gaC>gaT	p.D1545D	RREB1_ENST00000334984.6_Intron|RREB1_ENST00000349384.6_Silent_p.D1490D|RREB1_ENST00000379933.3_Silent_p.D1490D	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1490					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGAAGAGCGACGATGACAAGA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	75	76			NA	NA	6		NA											NA				7247318		2203	4299	6502	SO:0001819	synonymous_variant			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782	6239	6239		Zinc fingers, C2H2-type	10449	protein-coding gene	gene with protein product	hindsight homolog (drosophila)	602209			NA	9367691, 18394891	Standard		NM_001003698	NA	Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000379938.2:c.4635C>T	6.37:g.7247318C>T		NA	A2RRF5|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	37	CCDS34335.1																																																																																			RREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039774.3		+	ENST00000379938.2	Silent	SNP	6 : 7247318 - 7247318 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	51
OVCH1	341350	broad.mit.edu	37	12	29624909	29624909	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29624909C>T	ENST00000318184.5	-	16	1681	c.1682G>A	c.(1681-1683)tGt>tAt	p.C561Y	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	561					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					AGGGATGCCACAGACATCTAC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	45	45			NA	NA	12		NA											NA				29624909		1921	4120	6041	SO:0001583	missense			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950	341350	341350			23080	protein-coding gene	gene with protein product					NA	12838346	Standard	NM_183378	NM_183378	NA	Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1682G>A	12.37:g.29624909C>T	ENSP00000326708:p.Cys561Tyr	NA		37		.	.	.	.	.	.	.	.	.	.	C	11.07	1.531305	0.27387	.	.	ENSG00000187950	ENST00000318184	T	0.66280	-0.2	2.16	2.16	0.27623	Peptidase cysteine/serine, trypsin-like (1);	.	.	.	.	T	0.56790	0.2009	N	0.08118	0	0.25530	N	0.987281	D	0.65815	0.995	P	0.60682	0.878	T	0.52873	-0.8517	9	0.54805	T	0.06	.	11.8871	0.52608	0.0:1.0:0.0:0.0	.	561	Q7RTY7	OVCH1_HUMAN	Y	561	ENSP00000326708:C561Y	ENSP00000326708:C561Y	C	-	2	0	OVCH1	29516176	1.000000	0.71417	0.376000	0.26042	0.814000	0.46013	3.276000	0.51646	1.520000	0.48965	0.650000	0.86243	TGT	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000395997.2		-	ENST00000318184.5	Missense_Mutation	SNP	12 : 29624909 - 29624909 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	140	36
KIF1A	547	broad.mit.edu	37	2	241697877	241697877	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241697877C>T	ENST00000320389.7	-	25	2613	c.2455G>A	c.(2455-2457)Gct>Act	p.A819T	KIF1A_ENST00000498729.2_Missense_Mutation_p.A828T	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	819					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ACCTCTGCAGCGCGGTCGTAC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	59	56			NA	NA	2		NA											NA				241697877		2170	4267	6437	SO:0001583	missense			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294	547	547		Kinesins, Pleckstrin homology (PH) domain containing	888	protein-coding gene	gene with protein product		601255	axonal transport of synaptic vesicles, chromosome 2 open reading frame 20, spastic paraplegia 30 (autosomal recessive)	ATSV, C2orf20, SPG30	NA	7539720, 10323250, 22258533	Standard	NM_138483	NM_001244008	NA	Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2455G>A	2.37:g.241697877C>T	ENSP00000322791:p.Ala819Thr	NA	O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	37	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	36	5.813877	0.96975	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.76968	-1.06;-1.06;-1.06	5.28	5.28	0.74379	.	0.000000	0.85682	U	0.000000	D	0.85128	0.5626	L	0.60455	1.87	0.80722	D	1	P;D;D	0.89917	0.879;1.0;1.0	P;D;D	0.79784	0.559;0.97;0.993	T	0.80826	-0.1209	10	0.15952	T	0.53	.	18.4813	0.90812	0.0:1.0:0.0:0.0	.	828;828;819	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	T	819;828;828;828	ENSP00000322791:A819T;ENSP00000438388:A828T;ENSP00000384231:A828T	ENSP00000322791:A819T	A	-	1	0	KIF1A	241346550	1.000000	0.71417	0.996000	0.52242	0.887000	0.51463	7.571000	0.82399	2.473000	0.83533	0.591000	0.81541	GCT	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324536.3		-	ENST00000320389.7	Missense_Mutation	SNP	2 : 241697877 - 241697877 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	113	12
MRTO4	51154	broad.mit.edu	37	1	19584466	19584466	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19584466G>A	ENST00000330263.4	+	6	778	c.481G>A	c.(481-483)Gcc>Acc	p.A161T		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	161					ribosome biogenesis	nuclear membrane|nucleolus		p.A161T(1)		breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGCCCACCGCCCTCAAGAG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(192;2418 3032 7540 48714)							NA				1	Substitution - Missense(1)	breast(1)											30	35	33			NA	NA	1		NA											NA				19584466		2203	4299	6502	SO:0001583	missense			AK027569	CCDS191.1	1p36.13	2008-02-05	2006-12-21	2007-01-05	ENSG00000053372	ENSG00000053372	51154	51154			18477	protein-coding gene	gene with protein product			chromosome 1 open reading frame 33, MRT4, mRNA turnover 4, homolog (S. cerevisiae)	C1orf33	NA		Standard	NM_016183	NM_016183	NA	Approved	dJ657E11.4, MRT4	uc001bbs.3	Q9UKD2	OTTHUMG00000002496	ENST00000330263.4:c.481G>A	1.37:g.19584466G>A	ENSP00000364320:p.Ala161Thr	NA	B3KNB3|Q5TG55|Q96SS6|Q9BPV9	37	CCDS191.1	.	.	.	.	.	.	.	.	.	.	G	5.514	0.279836	0.10458	.	.	ENSG00000053372	ENST00000330263	.	.	.	5.92	1.97	0.26223	.	0.139242	0.64402	N	0.000004	T	0.38931	0.1059	N	0.20574	0.59	0.52501	D	0.999956	B	0.13145	0.007	B	0.06405	0.002	T	0.11012	-1.0605	9	0.44086	T	0.13	-9.6924	9.8397	0.40991	0.1362:0.0:0.7458:0.118	.	161	Q9UKD2	MRT4_HUMAN	T	161	.	ENSP00000364320:A161T	A	+	1	0	MRTO4	19457053	0.997000	0.39634	0.724000	0.30704	0.002000	0.02628	2.484000	0.45242	0.114000	0.18032	-0.940000	0.02684	GCC	MRTO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007075.2		+	ENST00000330263.4	Missense_Mutation	SNP	1 : 19584466 - 19584466 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	59
DCHS2	54798	broad.mit.edu	37	4	155156635	155156635	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155156635C>T	ENST00000357232.4	-	25	7803	c.7804G>A	c.(7804-7806)Gac>Aac	p.D2602N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	NA					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTACTGCAGTCGTCAGTTTTC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	123	125	125		7804	4.8	0	4		125	0,8600		0,0,4300	no	missense	DCHS2	NM_017639.3	23	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	benign	2602/2917	155156635	1,13005	2203	4300	6503	SO:0001583	missense			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410	54798	54798		Cadherins / Cadherin-related	23111	protein-coding gene	gene with protein product	cadherin-related family member 7	612486	cadherin-like 27, dachsous 2 (Drosophila)	CDH27, PCDH23	NA	15003449	Standard	NM_001142552	NM_017639	NA	Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7804G>A	4.37:g.155156635C>T	ENSP00000349768:p.Asp2602Asn	NA	Q4W5P9|Q6ZS61|Q9NXU8	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	2.701	-0.271019	0.05716	2.27E-4	0.0	ENSG00000197410	ENST00000357232	T	0.53640	0.61	5.6	4.76	0.60689	.	0.640826	0.15264	N	0.271617	T	0.32882	0.0844	L	0.34521	1.04	0.23243	N	0.998056	B	0.26602	0.154	B	0.14023	0.01	T	0.15492	-1.0435	10	0.19147	T	0.46	.	9.2146	0.37339	0.0:0.7928:0.0:0.2072	.	2602	Q6V1P9	PCD23_HUMAN	N	2602	ENSP00000349768:D2602N	ENSP00000349768:D2602N	D	-	1	0	DCHS2	155376085	0.001000	0.12720	0.008000	0.14137	0.043000	0.13939	1.139000	0.31504	1.373000	0.46208	0.467000	0.42956	GAC	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365281.2		-	ENST00000357232.4	Missense_Mutation	SNP	4 : 155156635 - 155156635 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	660	125
FKBP7	51661	broad.mit.edu	37	2	179341872	179341872	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179341872T>G	ENST00000424785.2	-	2	348	c.290A>C	c.(289-291)gAc>gCc	p.D97A	FKBP7_ENST00000464248.1_5'UTR|FKBP7_ENST00000434643.2_Missense_Mutation_p.D97A	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7	97	PPIase FKBP-type.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			CATAGCAATGTCTAGGCCTTT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(26;682 927 5286 17599 46613)							NA				0													91	91	91			NA	NA	2		NA											NA				179341872		2203	4300	6503	SO:0001583	missense			AF092137	CCDS2280.1, CCDS46462.1	2q31.2	2013-01-10	2001-11-28		ENSG00000079150	ENSG00000079150	51661	51661		EF-hand domain containing	3723	protein-coding gene	gene with protein product		607062	FK506-binding protein 7		NA	9806833	Standard	NM_181342	NM_181342	NA	Approved	FKBP23	uc002umk.3	Q9Y680	OTTHUMG00000132577	ENST00000424785.2:c.290A>C	2.37:g.179341872T>G	ENSP00000413152:p.Asp97Ala	NA	Q4ZG70|Q6V3B2|Q86U65|Q96DA4|Q9Y6B0	37	CCDS2280.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.677742	0.88445	.	.	ENSG00000079150	ENST00000424785;ENST00000350591;ENST00000434643	T;T	0.58797	0.31;0.31	5.82	5.82	0.92795	.	0.042037	0.85682	D	0.000000	T	0.81394	0.4813	M	0.91972	3.26	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.994;0.959;0.998	D	0.85766	0.1352	10	0.87932	D	0	-2.8742	16.19	0.81981	0.0:0.0:0.0:1.0	.	97;97;97	B4DRE2;Q9Y680-3;Q9Y680-2	.;.;.	A	97	ENSP00000413152:D97A;ENSP00000415486:D97A	ENSP00000233092:D97A	D	-	2	0	FKBP7	179050118	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.698000	0.84413	2.225000	0.72522	0.460000	0.39030	GAC	FKBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255783.1		-	ENST00000424785.2	Missense_Mutation	SNP	2 : 179341872 - 179341872 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	491	13
GAS8	2622	broad.mit.edu	37	16	90097793	90097793	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90097793C>A	ENST00000268699.4	+	3	299	c.177C>A	c.(175-177)atC>atA	p.I59I	GAS8_ENST00000536122.1_Silent_p.I34I|GAS8_ENST00000540721.1_3'UTR	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	59	Regulates microtubule-binding (By similarity).				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		GGGACAAGATCCACACCTTCT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	101	103			NA	NA	16		NA											NA				90097793		2198	4300	6498	SO:0001819	synonymous_variant			AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013	2622	2622			4166	protein-coding gene	gene with protein product		605178	growth arrest-specific 11	GAS11	NA	9790751	Standard		NM_001481	NA	Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.177C>A	16.37:g.90097793C>A		NA	B2RCT1|Q2M234	37	CCDS10992.1																																																																																			GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000272877.2		+	ENST00000268699.4	Silent	SNP	16 : 90097793 - 90097793 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	233	14
BCS1L	617	broad.mit.edu	37	2	219525923	219525923	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219525923T>C	ENST00000431802.1	+	2	912	c.213T>C	c.(211-213)agT>agC	p.S71S	BCS1L_ENST00000412366.1_Silent_p.S71S|BCS1L_ENST00000392111.2_Silent_p.S71S|BCS1L_ENST00000439945.1_Silent_p.S71S|BCS1L_ENST00000392110.2_Silent_p.S71S|BCS1L_ENST00000392109.1_Silent_p.S71S|BCS1L_ENST00000359273.3_Silent_p.S71S			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	71					mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCGCCACAGTACCCGTACTC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	129	128			NA	NA	2		NA											NA				219525923		2203	4300	6503	SO:0001819	synonymous_variant			AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582	617	617		ATPases / AAA-type, Mitochondrial respiratory chain complex assembly factors	1020	protein-coding gene	gene with protein product	GRACILE syndrome, Bjornstad syndrome	603647	BCS1 (yeast homolog)-like, BCS1-like (yeast), BCS1-like (S. cerevisiae)		NA	9878253, 17314340	Standard	NM_004328	NM_001079866	NA	Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.213T>C	2.37:g.219525923T>C		NA	B3KTW9|Q7Z2V7	37	CCDS2419.1																																																																																			BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336756.1		+	ENST00000431802.1	Silent	SNP	2 : 219525923 - 219525923 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	987	61
CLCA1	1179	broad.mit.edu	37	1	86934771	86934771	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86934771C>T	ENST00000234701.3	+	2	468	c.117C>T	c.(115-117)atC>atT	p.I39I	CLCA1_ENST00000394711.1_Silent_p.I39I			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	39					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TCGTTGCAATCGACCCCAATG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	116	118			NA	NA	1		NA											NA				86934771		2203	4300	6503	SO:0001819	synonymous_variant				CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490	1179	1179			2015	protein-coding gene	gene with protein product		603906	chloride channel, calcium activated, family member 1, chloride channel regulator 1		NA	9828122	Standard	NM_001285	NM_001285	NA	Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.117C>T	1.37:g.86934771C>T		NA	B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	37	CCDS709.1																																																																																			CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000028277.1		+	ENST00000234701.3	Silent	SNP	1 : 86934771 - 86934771 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	318	69
GDPGP1	390637	broad.mit.edu	37	15	90785069	90785069	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90785069G>A	ENST00000558017.1	+	4	1349	c.929G>A	c.(928-930)cGa>cAa	p.R310Q	GDPGP1_ENST00000329600.6_Missense_Mutation_p.R310Q	NM_001013657.2	NP_001013679.2	Q6ZNW5	VTC2_HUMAN	GDP-D-glucose phosphorylase 1	310					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity				NA						ACAGGGGTCCGAGTAATTCTG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	87	87			NA	NA	15		NA											NA				90785069		2199	4298	6497	SO:0001583	missense				CCDS32327.1	15q26.1	2012-05-04	2012-05-04	2012-05-04	ENSG00000183208	ENSG00000183208	390637	390637	2.7.7.78		34360	protein-coding gene	gene with protein product			chromosome 15 open reading frame 58	C15orf58	NA	21507950	Standard	NM_001013657	NM_001013657	NA	Approved		uc002bpc.3	Q6ZNW5		ENST00000558017.1:c.929G>A	15.37:g.90785069G>A	ENSP00000452793:p.Arg310Gln	NA		37	CCDS32327.1	.	.	.	.	.	.	.	.	.	.	G	34	5.359444	0.95854	.	.	ENSG00000183208	ENST00000329600	T	0.30182	1.54	5.62	5.62	0.85841	.	0.067449	0.64402	N	0.000018	T	0.57784	0.2077	M	0.76002	2.32	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	T	0.56529	-0.7964	10	0.48119	T	0.1	-4.3321	18.2287	0.89927	0.0:0.0:1.0:0.0	.	310	Q6ZNW5	VTC2_HUMAN	Q	310	ENSP00000368405:R310Q	ENSP00000368405:R310Q	R	+	2	0	C15orf58	88586073	1.000000	0.71417	0.963000	0.40424	0.946000	0.59487	6.936000	0.75892	2.661000	0.90470	0.655000	0.94253	CGA	GDPGP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416973.1		+	ENST00000558017.1	Missense_Mutation	SNP	15 : 90785069 - 90785069 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	408	78
TRPC1	7220	broad.mit.edu	37	3	142443464	142443464	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142443464C>A	ENST00000273482.6	+	1	454	c.63C>A	c.(61-63)tcC>tcA	p.S21S	TRPC1_ENST00000476941.1_Silent_p.S21S	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	21					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						ccctgccttcctctccatcct	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	72	74			NA	NA	3		NA											NA				142443464		2203	4300	6503	SO:0001819	synonymous_variant			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935	7220	7220		Voltage-gated ion channels / Transient receptor potential cation channels	12333	protein-coding gene	gene with protein product		602343			NA	7568191, 16382100	Standard	NM_003304	NM_001251845	NA	Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000273482.6:c.63C>A	3.37:g.142443464C>A		NA	Q14CE4	37	CCDS3126.1																																																																																			TRPC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354476.2		+	ENST00000273482.6	Silent	SNP	3 : 142443464 - 142443464 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	138	35
FOCAD	54914	broad.mit.edu	37	9	20781887	20781887	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:20781887G>A	ENST00000380249.1	+	12	1520	c.1156G>A	c.(1156-1158)Gaa>Aaa	p.E386K	FOCAD_ENST00000338382.6_Missense_Mutation_p.E386K	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	386						integral to membrane	binding				NA						AAACCTTTTGGAAATGATACA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	112	117			NA	NA	9		NA											NA				20781887		2203	4300	6503	SO:0001583	missense			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352	54914	54914			23377	protein-coding gene	gene with protein product		614606	KIAA1797	KIAA1797	NA	22427331	Standard	NM_017794	XM_006716794	NA	Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.1156G>A	9.37:g.20781887G>A	ENSP00000369599:p.Glu386Lys	NA	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	37	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.224285	0.58668	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.07444	3.19;3.19	5.88	4.98	0.66077	.	0.280305	0.37348	N	0.002135	T	0.07369	0.0186	L	0.32530	0.975	0.42978	D	0.994451	P	0.39282	0.666	B	0.33339	0.162	T	0.36890	-0.9729	10	0.29301	T	0.29	-16.2097	15.434	0.75129	0.0:0.1382:0.8618:0.0	.	386	Q5VW36	K1797_HUMAN	K	386	ENSP00000369599:E386K;ENSP00000344307:E386K	ENSP00000344307:E386K	E	+	1	0	KIAA1797	20771887	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	4.395000	0.59678	1.465000	0.48006	-0.176000	0.13171	GAA	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000143442.1		+	ENST00000380249.1	Missense_Mutation	SNP	9 : 20781887 - 20781887 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	425	30
HDAC7	51564	broad.mit.edu	37	12	48188548	48188548	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48188548G>A	ENST00000080059.7	-	12	1452	c.1453C>T	c.(1453-1455)Cct>Tct	p.P485S	HDAC7_ENST00000354334.3_Missense_Mutation_p.P448S|HDAC7_ENST00000427332.2_Missense_Mutation_p.P446S|HDAC7_ENST00000380610.4_Missense_Mutation_p.P502S|HDAC7_ENST00000552960.1_Missense_Mutation_p.P468S	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	446	Transcription repression 2 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CATACCTGAGGGTGCTGCTGG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	33	32			NA	NA	12		NA											NA				48188548		2203	4300	6503	SO:0001583	missense			AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273	51564	51564			14067	protein-coding gene	gene with protein product		606542	histone deacetylase 7A	HDAC7A	NA	10922406, 10640276	Standard		NM_015401	NA	Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000080059.7:c.1453C>T	12.37:g.48188548G>A	ENSP00000080059:p.Pro485Ser	NA	B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	37	CCDS8756.2	.	.	.	.	.	.	.	.	.	.	G	4.617	0.114730	0.08831	.	.	ENSG00000061273	ENST00000080059;ENST00000354334;ENST00000552960;ENST00000380610;ENST00000427332	T;T;T;T;T	0.53206	0.64;0.64;0.65;0.63;0.65	4.9	4.9	0.64082	.	0.653207	0.14765	N	0.299758	T	0.27027	0.0662	N	0.08118	0	0.20307	N	0.999919	B;B;B	0.17852	0.024;0.007;0.011	B;B;B	0.17433	0.018;0.012;0.013	T	0.07597	-1.0764	10	0.11485	T	0.65	.	12.9805	0.58562	0.0:0.0:0.8377:0.1623	.	485;468;448	Q8WUI4-5;Q8WUI4-6;Q8WUI4-7	.;.;.	S	485;448;468;502;446	ENSP00000080059:P485S;ENSP00000351326:P448S;ENSP00000448532:P468S;ENSP00000369984:P502S;ENSP00000404394:P446S	ENSP00000080059:P485S	P	-	1	0	HDAC7	46474815	1.000000	0.71417	0.999000	0.59377	0.275000	0.26752	6.763000	0.74955	2.418000	0.82041	0.563000	0.77884	CCT	HDAC7-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328792.1		-	ENST00000080059.7	Missense_Mutation	SNP	12 : 48188548 - 48188548 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	285	49
NFATC3	4775	broad.mit.edu	37	16	68156009	68156009	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68156009T>C	ENST00000575270.1	+	2	561	c.223T>C	c.(223-225)Tca>Cca	p.S75P	RP11-67A1.2_ENST00000548144.1_RNA|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Missense_Mutation_p.S75P|NFATC3_ENST00000349223.5_Missense_Mutation_p.S75P|NFATC3_ENST00000329524.4_Missense_Mutation_p.S75P			Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	75			S -> L (in dbSNP:rs2230092).		inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TTCTGTTTTGTCACCATCGTT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													217	194	202			NA	NA	16		NA											NA				68156009		2198	4300	6498	SO:0001583	missense			L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736	4775	4775		Nuclear factor of activated T-cells	7777	protein-coding gene	gene with protein product		602698			NA	7749981	Standard	NM_004555	NM_004555	NA	Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000575270.1:c.223T>C	16.37:g.68156009T>C	ENSP00000460533:p.Ser75Pro	NA	O75211|Q14516|Q99840|Q99841|Q99842	37		.	.	.	.	.	.	.	.	.	.	T	16.45	3.127301	0.56721	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524	T;T;T	0.12361	2.69;2.69;2.7	5.71	4.61	0.57282	.	0.646421	0.16210	N	0.224538	T	0.20210	0.0486	L	0.39898	1.24	0.36192	D	0.850152	P;P;P;P	0.51147	0.542;0.942;0.542;0.811	B;P;B;B	0.54401	0.288;0.751;0.288;0.288	T	0.10497	-1.0627	10	0.25106	T	0.35	0.3816	11.5118	0.50498	0.0:0.0709:0.0:0.9291	.	75;75;75;75	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	P	75	ENSP00000264008:S75P;ENSP00000300659:S75P;ENSP00000331324:S75P	ENSP00000331324:S75P	S	+	1	0	NFATC3	66713510	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.259000	0.78381	1.101000	0.41535	0.456000	0.33151	TCA	NFATC3-023	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000436934.2		+	ENST00000575270.1	Missense_Mutation	SNP	16 : 68156009 - 68156009 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	756	161
OR8U1	219417	broad.mit.edu	37	11	56143190	56143190	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56143190T>G	ENST00000302270.1	+	1	91	c.91T>G	c.(91-93)Ttc>Gtc	p.F31V		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1	NA										NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					CTTTGTGCTATTCTTATCCAT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													240	211	220			NA	NA	11		NA											NA				56143190		1909	4133	6042	SO:0001583	missense			AB065603	CCDS41647.1	11q11	2012-08-09			ENSG00000172199	ENSG00000172199	219417	219417		GPCR / Class A : Olfactory receptors	19611	protein-coding gene	gene with protein product					NA		Standard	NM_001005204	NM_001005204	NA	Approved			Q8NH10	OTTHUMG00000166860	ENST00000302270.1:c.91T>G	11.37:g.56143190T>G	ENSP00000304188:p.Phe31Val	NA		37	CCDS41647.1	.	.	.	.	.	.	.	.	.	.	T	8.715	0.912903	0.17907	.	.	ENSG00000172199	ENST00000302270	T	0.04551	3.6	5.78	4.64	0.57946	.	0.000000	0.50627	D	0.000113	T	0.09862	0.0242	M	0.77406	2.37	0.30146	N	0.803476	B	0.24963	0.115	B	0.28784	0.094	T	0.02020	-1.1228	10	0.87932	D	0	.	11.5397	0.50659	0.1341:0.0:0.0:0.8659	.	31	Q8NH10	OR8U1_HUMAN	V	31	ENSP00000304188:F31V	ENSP00000304188:F31V	F	+	1	0	OR8U1	55899766	0.031000	0.19500	0.591000	0.28745	0.001000	0.01503	0.476000	0.22180	1.001000	0.39076	-0.350000	0.07774	TTC	OR8U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391607.1		+	ENST00000302270.1	Missense_Mutation	SNP	11 : 56143190 - 56143190 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	956	153
IKBKB	3551	broad.mit.edu	37	8	42174349	42174349	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42174349A>G	ENST00000520810.1	+	11	1238	c.1052A>G	c.(1051-1053)cAg>cGg	p.Q351R	IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.Q349R|IKBKB_ENST00000416505.2_Missense_Mutation_p.Q292R|IKBKB_ENST00000379708.3_Missense_Mutation_p.Q128R	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	351					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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 transcription, DNA-dependent|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	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	GAGGAGGACCAGGAGCTGCTG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	78	81			NA	NA	8		NA											NA				42174349		2203	4300	6503	SO:0001583	missense			AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365	3551	3551			5960	protein-coding gene	gene with protein product		603258			NA	9878263, 9763654	Standard		NM_001556	NA	Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.1052A>G	8.37:g.42174349A>G	ENSP00000430684:p.Gln351Arg	NA	B4DZ30|O75327	37	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	A	33	5.289614	0.95546	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.46	5.46	0.80206	Ubiquitin supergroup (1);	0.000000	0.85682	D	0.000000	T	0.76630	0.4014	M	0.77313	2.365	0.80722	D	1	P;D;P;D;D;D	0.89917	0.651;0.997;0.593;0.996;0.991;1.0	B;D;B;D;D;D	0.85130	0.198;0.972;0.229;0.944;0.917;0.997	T	0.80089	-0.1528	10	0.87932	D	0	.	15.4872	0.75575	1.0:0.0:0.0:0.0	.	292;349;128;302;351;351	B4E0U4;O14920-2;B3KRB7;Q59GL9;O14920;Q32ND9	.;.;.;.;IKKB_HUMAN;.	R	351;292;349;128	ENSP00000430684:Q351R;ENSP00000404920:Q292R;ENSP00000430868:Q349R;ENSP00000369030:Q128R	ENSP00000369030:Q128R	Q	+	2	0	IKBKB	42293506	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	2.195000	0.70347	0.528000	0.53228	CAG	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377214.1		+	ENST00000520810.1	Missense_Mutation	SNP	8 : 42174349 - 42174349 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	153	30
LRP8	7804	broad.mit.edu	37	1	53746293	53746293	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53746293G>A	ENST00000347547.2	-	4	461	c.462C>T	c.(460-462)tgC>tgT	p.C154C	LRP8_ENST00000371454.2_Silent_p.C154C|LRP8_ENST00000354412.3_Silent_p.C154C|LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000306052.6_Silent_p.C154C	NM_033300.3	NP_150643.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	324	LDL-receptor class A 3.				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CTCCACCCTCGCAGTCCTTCT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	81	91			NA	NA	1		NA											NA				53746293		2203	4300	6503	SO:0001819	synonymous_variant			D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193	7804	7804		Low density lipoprotein receptors	6700	protein-coding gene	gene with protein product		602600			NA	8626535, 9079678	Standard	NM_004631	NM_004631	NA	Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000347547.2:c.462C>T	1.37:g.53746293G>A		NA	B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	37	CCDS580.1																																																																																			LRP8-011	NOVEL	not_organism_supported|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387761.1		-	ENST00000347547.2	Silent	SNP	1 : 53746293 - 53746293 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	53
GPN1	11321	broad.mit.edu	37	2	27858050	27858050	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27858050C>T	ENST00000264718.3	+	7	536	c.515C>T	c.(514-516)tCg>tTg	p.S172L	GPN1_ENST00000424214.1_Missense_Mutation_p.S79L|GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000458167.2_Missense_Mutation_p.S63L|GPN1_ENST00000610189.1_Missense_Mutation_p.S158L|GPN1_ENST00000407583.3_Missense_Mutation_p.S146L|GPN1_ENST00000503738.1_Missense_Mutation_p.S63L|GPN1_ENST00000515877.1_Missense_Mutation_p.S79L			Q9HCN4	GPN1_HUMAN	GPN-loop GTPase 1	158						cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|large_intestine(1)|lung(12)	14						ATGGACACATCGAGAAGTACC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													233	209	217			NA	NA	2		NA											NA				27858050		2203	4300	6503	SO:0001583	missense			AB044661	CCDS1760.2, CCDS46248.1, CCDS46249.1, CCDS46250.1	2p23.3	2011-11-04	2008-04-30	2008-04-30	ENSG00000198522	ENSG00000198522	11321	11321		GPN-loop GTPases	17030	protein-coding gene	gene with protein product	RNA polymerase II associated protein 4	611479	XPA binding protein 1, XPA binding protein 1, GTPase	XAB1	NA	11058119, 11124703	Standard	NM_007266	NM_007266	NA	Approved	NTPBP, MBDIN, ATPBD1A, RPAP4	uc010ymc.2	Q9HCN4	OTTHUMG00000097784	ENST00000264718.3:c.515C>T	2.37:g.27858050C>T	ENSP00000264718:p.Ser172Leu	NA	O76004	37	CCDS1760.2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173807	0.78452	.	.	ENSG00000198522	ENST00000515877;ENST00000503738;ENST00000458167;ENST00000424214;ENST00000407583;ENST00000264718	T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94	5.96	5.96	0.96718	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.27933	0.0688	L	0.46885	1.475	0.58432	D	0.999999	B;P;B;P	0.48503	0.163;0.911;0.386;0.64	B;P;B;B	0.47206	0.046;0.541;0.108;0.265	T	0.00271	-1.1859	9	.	.	.	-16.5273	17.1122	0.86679	0.0:1.0:0.0:0.0	.	158;172;63;146	Q9HCN4;B4DQM4;B4DXU4;B5MBZ5	GPN1_HUMAN;.;.;.	L	79;63;63;79;146;172	ENSP00000424678:S79L;ENSP00000427269:S63L;ENSP00000412170:S63L;ENSP00000398115:S79L;ENSP00000384255:S146L;ENSP00000264718:S172L	.	S	+	2	0	GPN1	27711554	1.000000	0.71417	0.966000	0.40874	0.928000	0.56348	7.061000	0.76699	2.820000	0.97059	0.655000	0.94253	TCG	GPN1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000215027.2		+	ENST00000264718.3	Missense_Mutation	SNP	2 : 27858050 - 27858050 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	639	103
LPP	4026	broad.mit.edu	37	3	188584050	188584050	+	Silent	SNP	C	C	T	rs138205223	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:188584050C>T	ENST00000312675.4	+	9	1719	c.1473C>T	c.(1471-1473)acC>acT	p.T491T	LPP_ENST00000543006.1_Silent_p.T491T	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	491	LIM zinc-binding 2.				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)		TCCGAGCCACCGGGAAGGCCT	0.562		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								C	,,	2,4404	4.2+/-10.8	0,2,2201	172	146	155		1473,1032,1473	-6.2	0.9	3	dbSNP_134	155	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	LPP	NM_001167671.1,NM_001167672.1,NM_005578.3	,,	0,2,6501	TT,TC,CC	NA	0.0,0.0454,0.0154	,,	491/613,344/466,491/613	188584050	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			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.1473C>T	3.37:g.188584050C>T		NA	A1L4L6|D3DNV6|Q8NFX5	37	CCDS3291.1																																																																																			LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344030.1		+	ENST00000312675.4	Silent	SNP	3 : 188584050 - 188584050 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	444	59
STARD8	9754	broad.mit.edu	37	X	67938081	67938081	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:67938081G>C	ENST00000252336.6	+	5	1457	c.1085G>C	c.(1084-1086)aGc>aCc	p.S362T	STARD8_ENST00000374597.3_Missense_Mutation_p.S362T|STARD8_ENST00000374599.3_Missense_Mutation_p.S442T	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	362					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GAGGCTCTCAGCCAGATGGAG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	44	45			NA	NA	X		NA											NA				67938081		2203	4300	6503	SO:0001583	missense			D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052	9754	9754		Rho GTPase activating proteins, StAR-related lipid transfer (START) domain containing	19161	protein-coding gene	gene with protein product		300689	START domain containing 8		NA	8724849	Standard	NM_014725	NM_001142504	NA	Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.1085G>C	X.37:g.67938081G>C	ENSP00000252336:p.Ser362Thr	NA	A8K6T2|D3DVT9|Q5JST0|Q68DG7	37	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.150056	0.00328	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.07216	3.21;3.21;3.21	3.34	-0.62	0.11567	.	1.318330	0.05395	N	0.539601	T	0.02767	0.0083	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43278	-0.9401	10	0.14656	T	0.56	.	3.6177	0.08083	0.1562:0.2409:0.4911:0.1118	.	442;362	Q92502-2;Q92502	.;STAR8_HUMAN	T	362;442;362	ENSP00000252336:S362T;ENSP00000363727:S442T;ENSP00000363725:S362T	ENSP00000252336:S362T	S	+	2	0	STARD8	67854806	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.407000	0.07178	-0.286000	0.09076	-1.045000	0.02358	AGC	STARD8-201	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057026.2		+	ENST00000252336.6	Missense_Mutation	SNP	X : 67938081 - 67938081 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	159	12
PLIN5	440503	broad.mit.edu	37	19	4525690	4525690	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4525690G>A	ENST00000381848.3	-	6	755	c.675C>T	c.(673-675)caC>caT	p.H225H		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	225						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CCTGGGCACGGTGTTTGCTCT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	66	62			NA	NA	19		NA											NA				4525690		2132	4229	6361	SO:0001819	synonymous_variant			DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456	440503	440503		Perilipins	33196	protein-coding gene	gene with protein product	lipid storage droplet protein 5	613248			NA	17234449, 19638644	Standard	NM_001013706	NM_001013706	NA	Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.675C>T	19.37:g.4525690G>A		NA	A2RRC1|Q6ZS68	37	CCDS42473.1																																																																																			PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458647.1		-	ENST00000381848.3	Silent	SNP	19 : 4525690 - 4525690 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	369	74
ZNF516	9658	broad.mit.edu	37	18	74154150	74154150	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74154150C>T	ENST00000443185.2	-	3	1178	c.861G>A	c.(859-861)gaG>gaA	p.E287E	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGAACCAGGGCTCCTTGAACC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	52	49			NA	NA	18		NA											NA				74154150		2156	4255	6411	SO:0001819	synonymous_variant			D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493	9658	9658		Zinc fingers, C2H2-type	28990	protein-coding gene	gene with protein product		615114			NA	9039502	Standard	NM_014643	NM_014643	NA	Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.861G>A	18.37:g.74154150C>T		NA		37																																																																																				ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding			-	ENST00000443185.2	Silent	SNP	18 : 74154150 - 74154150 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	336	42
ARPC5	10092	broad.mit.edu	37	1	183604754	183604754	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183604754A>G	ENST00000359856.6	-	1	107	c.41T>C	c.(40-42)gTg>gCg	p.V14A	ARPC5_ENST00000367534.1_Missense_Mutation_p.V14A|ARPC5_ENST00000294742.6_Missense_Mutation_p.V14A	NM_005717.3	NP_005708.1	O15511	ARPC5_HUMAN	actin related protein 2/3 complex, subunit 5, 16kDa	14					actin cytoskeleton organization|cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|structural constituent of cytoskeleton			cervix(1)|large_intestine(1)|lung(2)	4						ATCCACGTCCACCTTCCGGAA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(136;1596 1789 3041 4830 41075)							NA				0													91	70	77			NA	NA	1		NA											NA				183604754		2203	4300	6503	SO:0001583	missense			AF017807	CCDS1357.1, CCDS58050.1	1q	2011-07-06	2002-08-29		ENSG00000162704	ENSG00000162704	10092	10092		Actin related protein 2/3 complex subunits	708	protein-coding gene	gene with protein product	Arp2/3 protein complex subunit p16	604227	actin related protein 2/3 complex, subunit 5 (16 kD)		NA	9359840, 9230079	Standard	NM_005717	NM_005717	NA	Approved	p16-Arc, ARC16, dJ127C7.3	uc021pgb.2	O15511	OTTHUMG00000035326	ENST00000359856.6:c.41T>C	1.37:g.183604754A>G	ENSP00000352918:p.Val14Ala	NA	A6NEC4|Q6PG42	37	CCDS1357.1	.	.	.	.	.	.	.	.	.	.	A	35	5.562476	0.96527	.	.	ENSG00000162704	ENST00000367534;ENST00000359856;ENST00000294742	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.77928	0.4204	M	0.85197	2.74	0.58432	D	0.999996	P	0.51653	0.947	P	0.56865	0.808	T	0.82200	-0.0575	9	0.87932	D	0	-25.9632	14.6726	0.68956	1.0:0.0:0.0:0.0	.	14	O15511	ARPC5_HUMAN	A	14	.	ENSP00000294742:V14A	V	-	2	0	ARPC5	181871377	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	8.656000	0.91102	2.116000	0.64780	0.482000	0.46254	GTG	ARPC5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085477.1		-	ENST00000359856.6	Missense_Mutation	SNP	1 : 183604754 - 183604754 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	451	63
VENTX	27287	broad.mit.edu	37	10	135051528	135051528	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135051528C>A	ENST00000325980.9	+	1	621	c.110C>A	c.(109-111)cCt>cAt	p.P37H		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	37					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		ACCCCCAGGCCTGCCGACTTC	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													5	7	7			NA	NA	10		NA											NA				135051528		2097	4194	6291	SO:0001583	missense			AF068006	CCDS7675.1	10q26.3	2011-06-20	2011-06-01	2005-09-27	ENSG00000151650	ENSG00000151650	27287	27287		Homeoboxes / ANTP class : NKL subclass	13639	protein-coding gene	gene with protein product		607158	VENT-like homeobox 2, VENT homeobox homolog (Xenopus laevis)	VENTX2	NA	10790436	Standard	NM_014468	NM_014468	NA	Approved	HPX42B	uc010quy.1	O95231	OTTHUMG00000019307	ENST00000325980.9:c.110C>A	10.37:g.135051528C>A	ENSP00000357556:p.Pro37His	NA	Q32MZ3	37	CCDS7675.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.714888	0.30413	.	.	ENSG00000151650	ENST00000325980	T	0.57595	0.39	1.9	1.9	0.25705	.	0.139797	0.48286	U	0.000196	T	0.38719	0.1051	N	0.24115	0.695	0.09310	N	1	B	0.28713	0.22	B	0.36959	0.237	T	0.38156	-0.9674	10	0.62326	D	0.03	.	7.3167	0.26505	0.0:1.0:0.0:0.0	.	37	O95231	VENTX_HUMAN	H	37	ENSP00000357556:P37H	ENSP00000357556:P37H	P	+	2	0	VENTX	134901518	0.001000	0.12720	0.048000	0.18961	0.058000	0.15608	0.204000	0.17335	1.387000	0.46486	0.393000	0.25936	CCT	VENTX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051116.4		+	ENST00000325980.9	Missense_Mutation	SNP	10 : 135051528 - 135051528 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	75	17
CA6	765	broad.mit.edu	37	1	9019051	9019051	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9019051C>T	ENST00000377436.3	+	4	491	c.491C>T	c.(490-492)gCc>gTc	p.A164V	CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377443.2_Missense_Mutation_p.A164V|CA6_ENST00000377442.2_Missense_Mutation_p.A104V	NM_001270500.1	NP_001257429.1	P23280	CAH6_HUMAN	carbonic anhydrase VI	164					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		GTACTGGCAGCCTTCGTTGAG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	149	148			NA	NA	1		NA											NA				9019051		2203	4300	6503	SO:0001583	missense			M57892	CCDS30578.1, CCDS57970.1, CCDS57971.1	1p36.2	2008-02-05			ENSG00000131686	ENSG00000131686	765	765	4.2.1.1	Carbonic anhydrases	1380	protein-coding gene	gene with protein product		114780			NA	9691177	Standard		NM_001215	NA	Approved		uc031plc.1	P23280	OTTHUMG00000001763	ENST00000377436.3:c.491C>T	1.37:g.9019051C>T	ENSP00000366654:p.Ala164Val	NA	Q96QX8|Q9UF03	37	CCDS57970.1	.	.	.	.	.	.	.	.	.	.	C	1.521	-0.546827	0.04024	.	.	ENSG00000131686	ENST00000549778;ENST00000377443;ENST00000377436;ENST00000377442	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.11	-1.43	0.08884	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.775342	0.12733	N	0.443663	T	0.16557	0.0398	N	0.00873	-1.125	0.09310	N	1	P;B	0.38992	0.653;0.308	B;B	0.25884	0.064;0.064	T	0.39981	-0.9587	10	0.02654	T	1	.	5.5065	0.16856	0.0:0.4073:0.1422:0.4505	.	104;164	E7EMQ1;P23280	.;CAH6_HUMAN	V	132;164;164;104	ENSP00000447108:A132V;ENSP00000366662:A164V;ENSP00000366654:A164V;ENSP00000366661:A104V	ENSP00000366654:A164V	A	+	2	0	CA6	8941638	0.043000	0.20138	0.000000	0.03702	0.168000	0.22595	0.500000	0.22562	-0.203000	0.10251	-0.165000	0.13383	GCC	CA6-005	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407379.1		+	ENST00000377436.3	Missense_Mutation	SNP	1 : 9019051 - 9019051 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	835	79
DQX1	165545	broad.mit.edu	37	2	74749838	74749838	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74749838T>C	ENST00000404568.3	-	8	1583	c.1364A>G	c.(1363-1365)gAt>gGt	p.D455G	DQX1_ENST00000393951.2_Missense_Mutation_p.D455G	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	455						nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CAGGTCCCCATCATCATCCAG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													199	194	196			NA	NA	2		NA											NA				74749838		2203	4300	6503	SO:0001583	missense			AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045	165545	165545			20410	protein-coding gene	gene with protein product			DEAQ box polypeptide 1 (RNA-dependent ATPase)		NA		Standard	NM_133637	NM_133637	NA	Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.1364A>G	2.37:g.74749838T>C	ENSP00000384621:p.Asp455Gly	NA	Q6B017|Q8NAM8	37	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	T	18.02	3.530676	0.64860	.	.	ENSG00000144045	ENST00000393951;ENST00000404568	T;T	0.32023	1.47;1.47	4.57	4.57	0.56435	Helicase-associated domain (2);	0.000000	0.64402	D	0.000001	T	0.42245	0.1194	M	0.77712	2.385	0.45704	D	0.998615	P	0.40360	0.714	P	0.45195	0.473	T	0.47661	-0.9100	10	0.72032	D	0.01	-13.8644	11.9275	0.52827	0.0:0.0:0.0:1.0	.	455	Q8TE96	DQX1_HUMAN	G	455	ENSP00000377523:D455G;ENSP00000384621:D455G	ENSP00000377523:D455G	D	-	2	0	DQX1	74603346	0.999000	0.42202	0.294000	0.24946	0.973000	0.67179	6.075000	0.71261	1.925000	0.55765	0.454000	0.30748	GAT	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252230.3		-	ENST00000404568.3	Missense_Mutation	SNP	2 : 74749838 - 74749838 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1695	73
SPECC1L	23384	broad.mit.edu	37	22	24709374	24709374	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24709374G>A	ENST00000314328.9	+	4	532	c.247G>A	c.(247-249)Gca>Aca	p.A83T	SPECC1L_ENST00000416735.1_3'UTR|SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.A83T|SPECC1L_ENST00000437398.1_Missense_Mutation_p.A83T|SPECC1L_ENST00000541492.1_Missense_Mutation_p.A83T	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	83					cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						CCCATCTGCAGCACCTTCAGC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	80	86			NA	NA	22		NA											NA				24709374		2203	4300	6503	SO:0001583	missense			AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014	23384	23384			29022	protein-coding gene	gene with protein product	cytokinesis and spindle organization A, cytospin A	614140	SPECC1-like		NA	9205841	Standard	NM_015330	NM_001254733	NA	Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.247G>A	22.37:g.24709374G>A	ENSP00000325785:p.Ala83Thr	NA	O15081	37	CCDS33619.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.528348	0.44969	.	.	ENSG00000100014	ENST00000398280;ENST00000437398;ENST00000421374;ENST00000314328;ENST00000541492;ENST00000440893	T;T;T;T;T	0.64991	-0.13;2.37;-0.13;2.88;0.46	5.09	4.06	0.47325	.	0.334721	0.32518	N	0.005999	T	0.38295	0.1035	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.22941	-1.0202	10	0.62326	D	0.03	-13.1645	7.611	0.28131	0.0837:0.0:0.7514:0.1649	.	83;83	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	T	111;83;83;83;83;22	ENSP00000393363:A83T;ENSP00000405671:A83T;ENSP00000325785:A83T;ENSP00000439633:A83T;ENSP00000414354:A22T	ENSP00000325785:A83T	A	+	1	0	SPECC1L	23039374	0.958000	0.32768	0.100000	0.21137	0.993000	0.82548	2.735000	0.47377	2.538000	0.85594	0.655000	0.94253	GCA	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319986.2		+	ENST00000314328.9	Missense_Mutation	SNP	22 : 24709374 - 24709374 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	319	19
SGSM2	9905	broad.mit.edu	37	17	2282760	2282760	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2282760G>A	ENST00000574563.1	+	22	2999				SGSM2_ENST00000268989.3_Silent_p.L1034L|SGSM2_ENST00000426855.2_Silent_p.L989L			O43147	SGSM2_HUMAN	small G protein signaling modulator 2	NA						intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		AGGAGATCCTGCGGATTGCCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	49	53			NA	NA	17		NA											NA				2282760		2203	4300	6503	SO:0001627	intron_variant			BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258	9905	9905		Small G protein signaling modulators	29026	protein-coding gene	gene with protein product		611418	RUN and TBC1 domain containing 1	RUTBC1	NA	9455477, 17509819, 21808068	Standard	NM_014853	NM_014853	NA	Approved	KIAA0397	uc002fum.4	O43147		ENST00000574563.1:c.2932+263G>A	17.37:g.2282760G>A		NA	A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	37																																																																																				SGSM2-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000438187.1		+	ENST00000574563.1	Intron	SNP	17 : 2282760 - 2282760 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	156	32
MAST1	22983	broad.mit.edu	37	19	12963203	12963203	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12963203C>T	ENST00000251472.4	+	10	1110	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L	MAST1_ENST00000591495.1_Silent_p.L353L	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	357					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						AAGACGATCTCTCTGAGGTAA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	72	78			NA	NA	19		NA											NA				12963203		2203	4300	6503	SO:0001819	synonymous_variant			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613	22983	22983			19034	protein-coding gene	gene with protein product		612256			NA		Standard	NM_014975	NM_014975	NA	Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1071C>T	19.37:g.12963203C>T		NA	O00114|Q8N6X0	37	CCDS32921.1																																																																																			MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451733.2		+	ENST00000251472.4	Silent	SNP	19 : 12963203 - 12963203 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	58
ZNF671	79891	broad.mit.edu	37	19	58238764	58238764	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58238764C>T	ENST00000317398.6	-	1	228	c.133G>A	c.(133-135)Gcg>Acg	p.A45T	ZNF671_ENST00000596939.1_Missense_Mutation_p.A45T|ZNF671_ENST00000335820.3_5'UTR|AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000594803.1_5'UTR|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CCCACCCGCGCGGAGTCCGTT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	24	23			NA	NA	19		NA											NA				58238764		2201	4298	6499	SO:0001583	missense				CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814	79891	79891		Zinc fingers, C2H2-type, -	26279	protein-coding gene	gene with protein product	hypothetical protein FLJ23506				NA	12477932	Standard	NM_024833	NM_024833	NA	Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.133G>A	19.37:g.58238764C>T	ENSP00000321848:p.Ala45Thr	NA	A6NF07|Q9H5E9	37	CCDS12961.1	.	.	.	.	.	.	.	.	.	.	C	3.613	-0.079148	0.07141	.	.	ENSG00000083814	ENST00000317398	T	0.00801	5.68	1.45	-1.0	0.10196	Krueppel-associated box (1);	.	.	.	.	T	0.00384	0.0012	N	0.08118	0	0.20196	N	0.999923	P	0.45396	0.857	B	0.21360	0.034	T	0.46105	-0.9215	9	0.22109	T	0.4	.	2.0183	0.03503	0.3123:0.4741:0.0:0.2136	.	45	Q8TAW3	ZN671_HUMAN	T	45	ENSP00000321848:A45T	ENSP00000321848:A45T	A	-	1	0	ZNF671	62930576	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.950000	0.29122	-0.217000	0.10033	-0.373000	0.07131	GCG	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466817.1		-	ENST00000317398.6	Missense_Mutation	SNP	19 : 58238764 - 58238764 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	175	38
GCM1	8521	broad.mit.edu	37	6	52995674	52995674	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52995674C>A	ENST00000259803.7	-	5	708	c.497G>T	c.(496-498)aGa>aTa	p.R166I		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	166						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					CATGGCTCTTCTTGCCTCAGC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													433	331	365			NA	NA	6		NA											NA				52995674		2203	4300	6503	SO:0001583	missense			D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270	8521	8521			4197	protein-coding gene	gene with protein product		603715	glial cells missing (Drosophila) homolog a	GCMA	NA	8962155	Standard		NM_003643	NA	Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.497G>T	6.37:g.52995674C>A	ENSP00000259803:p.Arg166Ile	NA	Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	37	CCDS4950.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236308	0.79800	.	.	ENSG00000137270	ENST00000259803	T	0.77229	-1.08	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.86965	0.6060	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86844	0.2019	10	0.87932	D	0	-5.1915	20.4238	0.99064	0.0:1.0:0.0:0.0	.	166	Q9NP62	GCM1_HUMAN	I	166	ENSP00000259803:R166I	ENSP00000259803:R166I	R	-	2	0	GCM1	53103633	1.000000	0.71417	0.997000	0.53966	0.172000	0.22775	6.685000	0.74543	2.834000	0.97654	0.650000	0.86243	AGA	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040953.1		-	ENST00000259803.7	Missense_Mutation	SNP	6 : 52995674 - 52995674 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	604	109
CCR1	1230	broad.mit.edu	37	3	46244850	46244850	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46244850G>A	ENST00000296140.3	-	2	1080	c.955C>T	c.(955-957)Cgt>Tgt	p.R319C	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	319					cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ACAGCCACACGCCTGTGGAAC	0.592		NA											G	0	0	NA	NA	2184	NA	1	,	,	NA	2e-04	NA	NA	NA	0	0	LOWCOV	NA	NA	0.0011	SNP								NA				0								G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	95	80	85		955	0.2	0	3		85	0,8600		0,0,4300	no	missense	CCR1	NM_001295.2	180	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging	319/356	46244850	1,13005	2203	4300	6503	SO:0001583	missense				CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823	1230	1230		GPCR / Class A : Chemokine receptors : C-C motif, CD molecules	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1	NA	7679328	Standard	NM_001295	NM_001295	NA	Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.955C>T	3.37:g.46244850G>A	ENSP00000296140:p.Arg319Cys	NA	Q86VA9	37	CCDS2737.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	12.83	2.055942	0.36277	2.27E-4	0.0	ENSG00000163823	ENST00000296140	T	0.37584	1.19	5.31	0.176	0.15049	.	0.974131	0.08385	N	0.953839	T	0.21801	0.0525	N	0.04994	-0.135	0.09310	N	1	D	0.54207	0.965	P	0.48677	0.586	T	0.09862	-1.0655	10	0.51188	T	0.08	.	3.7884	0.08710	0.1929:0.1125:0.5783:0.1163	.	319	P32246	CCR1_HUMAN	C	319	ENSP00000296140:R319C	ENSP00000296140:R319C	R	-	1	0	CCR1	46219854	0.000000	0.05858	0.000000	0.03702	0.313000	0.28021	-0.181000	0.09740	-0.185000	0.10550	0.561000	0.74099	CGT	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257325.2		-	ENST00000296140.3	Missense_Mutation	SNP	3 : 46244850 - 46244850 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	269	55
OR4P4	81300	broad.mit.edu	37	11	55406127	55406127	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55406127A>C	ENST00000314612.2	+	1	294	c.294A>C	c.(292-294)caA>caC	p.Q98H		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GTATGATACAACTCTTTACCA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	100	106			NA	NA	11		NA											NA				55406127		2179	4018	6197	SO:0001583	missense			AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927	81300	81300		GPCR / Class A : Olfactory receptors	15180	protein-coding gene	gene with protein product				OR4P3P	NA		Standard	NM_001004124	NM_001004124	NA	Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.294A>C	11.37:g.55406127A>C	ENSP00000324831:p.Gln98His	NA		37	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	A	11.00	1.509718	0.27036	.	.	ENSG00000181927	ENST00000314612	T	0.00472	7.19	5.18	-1.46	0.08800	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38778	N	0.001567	T	0.01489	0.0048	H	0.95004	3.61	0.23693	N	0.997095	D	0.76494	0.999	D	0.70227	0.968	T	0.28332	-1.0047	10	0.87932	D	0	-2.1273	6.2509	0.20845	0.3697:0.1177:0.5126:0.0	.	98	Q8NGL7	OR4P4_HUMAN	H	98	ENSP00000324831:Q98H	ENSP00000324831:Q98H	Q	+	3	2	OR4P4	55162703	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-1.000000	0.03693	-0.297000	0.08934	-0.261000	0.10672	CAA	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383356.1		+	ENST00000314612.2	Missense_Mutation	SNP	11 : 55406127 - 55406127 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	758	146
ATP5G3	518	broad.mit.edu	37	2	176043125	176043125	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176043125G>T	ENST00000284727.4	-	5	3344	c.320C>A	c.(319-321)cCt>cAt	p.P107H	ATP5G3_ENST00000409194.1_Missense_Mutation_p.P107H|ATP5G3_ENST00000392541.3_Missense_Mutation_p.P107H	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)	107					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding|protein binding			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.147)			CTTCAGCGAAGGGTTTCTAAA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(30;387 605 18606 28805 47989)							NA				0													97	92	94			NA	NA	2		NA											NA				176043125		2203	4300	6503	SO:0001583	missense			BC106881	CCDS2263.1	2q31.1	2012-10-12	2010-06-11		ENSG00000154518	ENSG00000154518	518	518		Mitochondrial respiratory chain complex / Complex V, ATPases / F-type	843	protein-coding gene	gene with protein product		602736	ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) isoform 3, ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9)		NA	7698763	Standard	NM_001689	NM_001002258	NA	Approved		uc002ujz.4	P48201	OTTHUMG00000132425	ENST00000284727.4:c.320C>A	2.37:g.176043125G>T	ENSP00000284727:p.Pro107His	NA	B2R4Z0|D3DPF0|Q4ZFX7	37	CCDS2263.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101759	0.76983	.	.	ENSG00000154518	ENST00000284727;ENST00000409194;ENST00000392541	T;T;T	0.70164	-0.46;-0.46;-0.46	5.93	5.06	0.68205	ATPase, F0/V0 complex, subunit C (3);	0.045788	0.85682	D	0.000000	D	0.90463	0.7013	H	0.99746	4.745	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.95152	0.8273	10	0.87932	D	0	-12.4168	17.3342	0.87275	0.0:0.1249:0.8751:0.0	.	107	P48201	AT5G3_HUMAN	H	107	ENSP00000284727:P107H;ENSP00000387317:P107H;ENSP00000376324:P107H	ENSP00000284727:P107H	P	-	2	0	ATP5G3	175751371	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	9.808000	0.99193	1.525000	0.49052	0.655000	0.94253	CCT	ATP5G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255563.1		-	ENST00000284727.4	Missense_Mutation	SNP	2 : 176043125 - 176043125 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	441	37
DLEC1	9940	broad.mit.edu	37	3	38139062	38139062	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38139062G>T	ENST00000308059.6	+	17	2520	c.2499G>T	c.(2497-2499)caG>caT	p.Q833H	DLEC1_ENST00000346219.3_Missense_Mutation_p.Q833H|DLEC1_ENST00000452631.2_Missense_Mutation_p.Q833H			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	833					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCACAAGCCAGGACCTGCTGT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	54	53			NA	NA	3		NA											NA				38139062		1969	4162	6131	SO:0001583	missense			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226	9940	9940			2899	protein-coding gene	gene with protein product	cilia and flagella associated protein 81	604050			NA	10213508	Standard	NM_007337	XM_005265630	NA	Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2499G>T	3.37:g.38139062G>T	ENSP00000308597:p.Gln833His	NA	Q9NSW0|Q9NTG5	37	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	11.67	1.707812	0.30322	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05139	3.51;3.49;3.72	5.06	4.12	0.48240	.	0.751776	0.12452	U	0.467648	T	0.07188	0.0182	L	0.48642	1.525	0.26044	N	0.981565	B;B;B	0.25351	0.124;0.071;0.124	B;B;B	0.21360	0.034;0.03;0.031	T	0.12993	-1.0526	10	0.35671	T	0.21	-6.1338	9.7481	0.40459	0.0:0.1505:0.6946:0.1548	.	833;833;833	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	H	833	ENSP00000308597:Q833H;ENSP00000315914:Q833H;ENSP00000410427:Q833H	ENSP00000308597:Q833H	Q	+	3	2	DLEC1	38114066	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	1.496000	0.35638	2.357000	0.79964	0.558000	0.71614	CAG	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253745.3		+	ENST00000308059.6	Missense_Mutation	SNP	3 : 38139062 - 38139062 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	25
CARD9	64170	broad.mit.edu	37	9	139265005	139265005	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139265005G>T	ENST00000371732.5	-	5	941	c.776C>A	c.(775-777)gCc>gAc	p.A259D	CARD9_ENST00000371734.3_Missense_Mutation_p.A259D|CARD9_ENST00000315908.7_Missense_Mutation_p.A259D	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	259					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		CTGCACCCGGGCCTGGAGCAG	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	16	17			NA	NA	9		NA											NA				139265005		2189	4294	6483	SO:0001583	missense			AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796	64170	64170			16391	protein-coding gene	gene with protein product		607212			NA	11053425	Standard	NM_052813	NM_052813	NA	Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.776C>A	9.37:g.139265005G>T	ENSP00000360797:p.Ala259Asp	NA	Q5SXM6|Q9H854	37	CCDS6997.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931385	0.52866	.	.	ENSG00000187796	ENST00000371734;ENST00000371732;ENST00000315908	T;T;T	0.33865	1.39;1.39;1.39	3.4	3.4	0.38934	.	0.156398	0.41396	D	0.000893	T	0.55878	0.1948	M	0.72894	2.215	0.49051	D	0.999744	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.989;0.989;0.988	T	0.55522	-0.8128	10	0.28530	T	0.3	-27.2828	14.3098	0.66407	0.0:0.0:1.0:0.0	.	155;259;259	B4DIK5;Q9H257-2;Q9H257	.;.;CARD9_HUMAN	D	259	ENSP00000360799:A259D;ENSP00000360797:A259D;ENSP00000323719:A259D	ENSP00000323719:A259D	A	-	2	0	CARD9	138384826	1.000000	0.71417	0.999000	0.59377	0.468000	0.32798	4.611000	0.61162	1.894000	0.54839	0.467000	0.42956	GCC	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055053.1		-	ENST00000371732.5	Missense_Mutation	SNP	9 : 139265005 - 139265005 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	121	18
PPWD1	23398	broad.mit.edu	37	5	64863418	64863418	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:64863418T>G	ENST00000261308.5	+	2	347	c.275T>G	c.(274-276)gTt>gGt	p.V92G	PPWD1_ENST00000535264.1_Missense_Mutation_p.V62G|PPWD1_ENST00000538977.1_Intron	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	92					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		CATAGAGATGTTATCACCCAT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	112	112			NA	NA	5		NA											NA				64863418		2203	4300	6503	SO:0001583	missense			AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593	23398	23398		WD repeat domain containing	28954	protein-coding gene	gene with protein product					NA	7584044	Standard	NM_015342	NM_015342	NA	Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.275T>G	5.37:g.64863418T>G	ENSP00000261308:p.Val92Gly	NA	Q15002|Q7KZ89	37	CCDS3985.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.227554	0.79576	.	.	ENSG00000113593	ENST00000261308;ENST00000535264;ENST00000505380	T;T;T	0.62364	0.03;0.03;0.31	5.62	5.62	0.85841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.054812	0.64402	D	0.000001	T	0.80449	0.4625	M	0.87456	2.885	0.80722	D	1	D;D	0.67145	0.995;0.996	P;D	0.66716	0.878;0.946	T	0.81138	-0.1069	10	0.33940	T	0.23	.	15.8173	0.78612	0.0:0.0:0.0:1.0	.	62;92	F5H7P7;Q96BP3	.;PPWD1_HUMAN	G	92;62;11	ENSP00000261308:V92G;ENSP00000442371:V62G;ENSP00000423234:V11G	ENSP00000261308:V92G	V	+	2	0	PPWD1	64899174	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.266000	0.72540	2.151000	0.67156	0.533000	0.62120	GTT	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253970.2		+	ENST00000261308.5	Missense_Mutation	SNP	5 : 64863418 - 64863418 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	291	49
TNKS1BP1	85456	broad.mit.edu	37	11	57076499	57076499	+	Missense_Mutation	SNP	G	G	A	rs139978039		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57076499G>A	ENST00000532437.1	-	5	3997	c.3686C>T	c.(3685-3687)tCt>tTt	p.S1229F	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.S1229F			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1229	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				ATTAACATCAGAAGTCCAGTC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	171	167			NA	NA	11		NA											NA				57076499		2201	4296	6497	SO:0001583	missense			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115	85456	85456			19081	protein-coding gene	gene with protein product		607104			NA	11854288	Standard	NM_033396	NM_033396	NA	Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.3686C>T	11.37:g.57076499G>A	ENSP00000437271:p.Ser1229Phe	NA	A7E2F8|Q6PJ35|Q6ZV74	37	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.185709	0.38609	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.33438	1.41;1.41	5.05	0.667	0.17907	.	0.907000	0.09290	N	0.822392	T	0.39911	0.1096	L	0.51422	1.61	0.09310	N	1	D	0.64830	0.994	P	0.59825	0.864	T	0.22173	-1.0224	10	0.72032	D	0.01	-3.2115	4.4738	0.11726	0.0804:0.2886:0.482:0.1489	.	1229	Q9C0C2	TB182_HUMAN	F	1229	ENSP00000350990:S1229F;ENSP00000437271:S1229F	ENSP00000350990:S1229F	S	-	2	0	TNKS1BP1	56833075	0.043000	0.20138	0.017000	0.16124	0.501000	0.33797	0.663000	0.25053	0.152000	0.19188	0.462000	0.41574	TCT	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392455.1		-	ENST00000532437.1	Missense_Mutation	SNP	11 : 57076499 - 57076499 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1937	391
ABCA1	19	broad.mit.edu	37	9	107589230	107589230	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107589230G>A	ENST00000374736.3	-	16	2730	c.2336C>T	c.(2335-2337)gCt>gTt	p.A779V	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	779					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GGTACTCACAGCGAAGATCTT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	77	81			NA	NA	9		NA											NA				107589230		2203	4300	6503	SO:0001630	splice_region_variant			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029	19	19		ATP binding cassette transporters / subfamily A	29	protein-coding gene	gene with protein product	Tangier disease	600046		ABC1, HDLDT1	NA	8088782, 10431236, 10431237, 10431238	Standard	NM_005502	NM_005502	NA	Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.2337+1C>T	9.37:g.107589230G>A		NA	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	37	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.439234	0.43326	.	.	ENSG00000165029	ENST00000374736	D	0.84370	-1.84	5.45	0.529	0.17095	.	0.434585	0.26518	N	0.023925	T	0.73908	0.3647	L	0.31804	0.96	0.37658	D	0.922663	B	0.10296	0.003	B	0.20384	0.029	T	0.60727	-0.7206	10	0.26408	T	0.33	.	9.5601	0.39364	0.3416:0.0:0.6584:0.0	.	779	O95477	ABCA1_HUMAN	V	779	ENSP00000363868:A779V	ENSP00000363868:A779V	A	-	2	0	ABCA1	106629051	0.965000	0.33210	0.001000	0.08648	0.573000	0.36030	2.795000	0.47861	-0.170000	0.10816	0.655000	0.94253	GCT	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053491.1	Missense_Mutation	-	ENST00000374736.3	Splice_Site	SNP	9 : 107589230 - 107589230 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	204	33
APOB	338	broad.mit.edu	37	2	21233848	21233848	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21233848A>G	ENST00000233242.1	-	26	6019	c.5892T>C	c.(5890-5892)ctT>ctC	p.L1964L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1964					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTTTGTGTTCAAGAGCTGCAC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	145	149			NA	NA	2		NA											NA				21233848		2203	4300	6503	SO:0001819	synonymous_variant			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674	338	338		Apolipoproteins	603	protein-coding gene	gene with protein product		107730	apolipoprotein B (including Ag(x) antigen)		NA		Standard		NM_000384	NA	Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.5892T>C	2.37:g.21233848A>G		NA	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	37	CCDS1703.1																																																																																			APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207571.1		-	ENST00000233242.1	Silent	SNP	2 : 21233848 - 21233848 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	731	204
NRCAM	4897	broad.mit.edu	37	7	107790514	107790514	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107790514G>A	ENST00000379024.4	-	30	3829	c.3420C>T	c.(3418-3420)gaC>gaT	p.D1140D	NRCAM_ENST00000379028.3_Silent_p.D1252D|NRCAM_ENST00000522550.2_5'UTR|NRCAM_ENST00000413765.2_Silent_p.D1128D|NRCAM_ENST00000351718.4_Silent_p.D1131D|NRCAM_ENST00000425651.2_Silent_p.D1252D	NM_001193582.1|NM_001193583.1|NM_001193584.1	NP_001180511.1|NP_001180512.1|NP_001180513.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1252	Fibronectin type-III 5.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CTAGGCTGTCGTCACTATCTT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													217	192	201			NA	NA	7		NA											NA				107790514		2203	4300	6503	SO:0001819	synonymous_variant				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129	4897	4897		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	7994	protein-coding gene	gene with protein product	NgCAM-related cell adhesion molecule	601581			NA	8812479	Standard	NM_001037132	NM_001037132	NA	Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000379024.4:c.3420C>T	7.37:g.107790514G>A		NA	A4D0S3|O15051|O15179|Q9UHI3|Q9UHI4	37	CCDS55153.1	.	.	.	.	.	.	.	.	.	.	G	3.696	-0.062504	0.07273	.	.	ENSG00000091129	ENST00000445634	.	.	.	6.17	-2.17	0.07059	.	.	.	.	.	T	0.57417	0.2052	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54166	-0.8334	4	.	.	.	.	11.3392	0.49523	0.6338:0.0:0.3662:0.0	.	.	.	.	M	151	.	.	T	-	2	0	NRCAM	107577750	1.000000	0.71417	0.685000	0.30070	0.909000	0.53808	1.744000	0.38268	-0.533000	0.06323	-1.105000	0.02106	ACG	NRCAM-001	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337863.2		-	ENST00000379024.4	Silent	SNP	7 : 107790514 - 107790514 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	971	186
SDK2	54549	broad.mit.edu	37	17	71354234	71354234	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71354234G>A	ENST00000392650.3	-	40	5577	c.5577C>T	c.(5575-5577)atC>atT	p.I1859I	SDK2_ENST00000388726.3_Silent_p.I1840I|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1859	Fibronectin type-III 13.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GTCTGGCCTCGATGACGTAGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	142	144			NA	NA	17		NA											NA				71354234		2203	4300	6503	SO:0001819	synonymous_variant			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188	54549	54549		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	19308	protein-coding gene	gene with protein product		607217	sidekick homolog 2 (chicken)		NA	12230981, 15213259	Standard	NM_019064	NM_001144952	NA	Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.5577C>T	17.37:g.71354234G>A		NA	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	37	CCDS45769.1																																																																																			SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327598.2		-	ENST00000392650.3	Silent	SNP	17 : 71354234 - 71354234 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	971	215
GPA33	10223	broad.mit.edu	37	1	167023611	167023611	+	Missense_Mutation	SNP	C	C	A	rs146470813		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167023611C>A	ENST00000367868.3	-	7	1263	c.920G>T	c.(919-921)aGg>aTg	p.R307M	RP11-102C16.3_ENST00000417644.1_RNA|GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	307						integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CCCAGTGCTCCTCTGCTCTTC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													195	135	155			NA	NA	1		NA											NA				167023611		2203	4300	6503	SO:0001583	missense			U79725	CCDS1258.1	1q24.1	2013-01-29			ENSG00000143167	ENSG00000143167	10223	10223		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	4445	protein-coding gene	gene with protein product		602171			NA	9012807, 9245713	Standard	NM_005814	NM_005814	NA	Approved	A33	uc001gea.1	Q99795	OTTHUMG00000034435	ENST00000367868.3:c.920G>T	1.37:g.167023611C>A	ENSP00000356842:p.Arg307Met	NA		37	CCDS1258.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505824	0.44558	.	.	ENSG00000143167	ENST00000367868	T	0.77877	-1.13	3.49	2.44	0.29823	.	0.451921	0.20846	N	0.084608	T	0.63558	0.2521	L	0.60455	1.87	0.09310	N	1	D	0.58620	0.983	P	0.47075	0.536	T	0.54944	-0.8217	10	0.48119	T	0.1	.	7.9319	0.29907	0.0:0.7445:0.2555:0.0	.	307	Q99795	GPA33_HUMAN	M	307	ENSP00000356842:R307M	ENSP00000356842:R307M	R	-	2	0	GPA33	165290235	0.000000	0.05858	0.013000	0.15412	0.070000	0.16714	-0.038000	0.12144	1.889000	0.54706	0.591000	0.81541	AGG	GPA33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083245.1		-	ENST00000367868.3	Missense_Mutation	SNP	1 : 167023611 - 167023611 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	702	191
THAP9	79725	broad.mit.edu	37	4	83822022	83822022	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83822022C>A	ENST00000302236.5	+	1	118	c.67C>A	c.(67-69)Ctc>Atc	p.L23I	THAP9-AS1_ENST00000504520.2_RNA	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	23							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				GGAGCGCGGCCTCTCCTTCCA	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	41	39			NA	NA	4		NA											NA				83822022		2202	4299	6501	SO:0001583	missense			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152	79725	79725		THAP (C2CH-type zinc finger) domain containing	23192	protein-coding gene	gene with protein product		612537			NA	12575992	Standard	NM_024672	NM_024672	NA	Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.67C>A	4.37:g.83822022C>A	ENSP00000305533:p.Leu23Ile	NA	Q59AC9	37	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.172757	0.57584	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.96011	-3.88	4.53	3.62	0.41486	Zinc finger, C2CH-type (3);	0.416196	0.17817	N	0.160983	D	0.84142	0.5407	N	0.02403	-0.565	0.23876	N	0.996598	P	0.38711	0.643	B	0.38378	0.272	T	0.78091	-0.2339	10	0.10377	T	0.69	-0.0427	7.6213	0.28187	0.0:0.8739:0.0:0.1261	.	23	Q9H5L6	THAP9_HUMAN	I	23	ENSP00000305533:L23I	ENSP00000305533:L23I	L	+	1	0	THAP9	84041046	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	0.418000	0.21230	1.378000	0.46305	0.467000	0.42956	CTC	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252633.1		+	ENST00000302236.5	Missense_Mutation	SNP	4 : 83822022 - 83822022 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	473	82
RNF111	54778	broad.mit.edu	37	15	59323801	59323801	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59323801C>T	ENST00000348370.4	+	2	1213	c.780C>T	c.(778-780)gaC>gaT	p.D260D	RNF111_ENST00000559209.1_Silent_p.D260D|RNF111_ENST00000434298.1_Silent_p.D260D|RNF111_ENST00000561186.1_Silent_p.D260D|RNF111_ENST00000557998.1_Silent_p.D260D	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	260	Interaction with AXIN1.|Ser-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		GTGAGAATGACCTCAGCAGTG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(72;983 1365 10746 34387 47081)							NA				0													134	131	132			NA	NA	15		NA											NA				59323801		2192	4291	6483	SO:0001819	synonymous_variant			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450	54778	54778		RING-type (C3HC4) zinc fingers	17384	protein-coding gene	gene with protein product		605840			NA	11298452	Standard	NM_017610	NM_017610	NA	Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000348370.4:c.780C>T	15.37:g.59323801C>T		NA	C9JUS4|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	37	CCDS10169.1																																																																																			RNF111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256017.2		+	ENST00000348370.4	Silent	SNP	15 : 59323801 - 59323801 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	687	113
GBF1	8729	broad.mit.edu	37	10	104136495	104136495	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104136495C>A	ENST00000369983.3	+	32	4483	c.4223C>A	c.(4222-4224)cCt>cAt	p.P1408H		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1408					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CACATCACACCTGACAACTTT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	84	85			NA	NA	10		NA											NA				104136495		2203	4300	6503	SO:0001583	missense			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862	8729	8729			4181	protein-coding gene	gene with protein product		603698	golgi-specific brefeldin A resistance factor 1		NA	9828135	Standard		NM_004193	NA	Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.4223C>A	10.37:g.104136495C>A	ENSP00000359000:p.Pro1408His	NA	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	37	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582242	0.86748	.	.	ENSG00000107862	ENST00000369983	T	0.34667	1.35	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.65186	0.2667	M	0.82193	2.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.992;0.96	T	0.70769	-0.4782	10	0.87932	D	0	-11.9933	18.4763	0.90793	0.0:1.0:0.0:0.0	.	1408;1408;1408	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	H	1408	ENSP00000359000:P1408H	ENSP00000359000:P1408H	P	+	2	0	GBF1	104126485	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.651000	0.83577	2.598000	0.87819	0.462000	0.41574	CCT	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050051.1		+	ENST00000369983.3	Missense_Mutation	SNP	10 : 104136495 - 104136495 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	430	82
PCDH9	5101	broad.mit.edu	37	13	67802202	67802202	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:67802202C>A	ENST00000456367.1	-	2	1057	c.371G>T	c.(370-372)aGg>aTg	p.R124M	PCDH9_ENST00000377865.2_Missense_Mutation_p.R124M|PCDH9_ENST00000544246.1_Missense_Mutation_p.R124M|PCDH9_ENST00000377861.3_Missense_Mutation_p.R124M|PCDH9_ENST00000328454.5_Missense_Mutation_p.R124M	NM_020403.4	NP_065136.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	124	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTTGATCAGCCTGAAGAAATC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	86	85			NA	NA	13		NA											NA				67802202		2203	4300	6503	SO:0001583	missense			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226	5101	5101		Cadherins / Protocadherins : Non-clustered	8661	protein-coding gene	gene with protein product		603581			NA	9787079	Standard	NM_203487	NM_020403	NA	Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000456367.1:c.371G>T	13.37:g.67802202C>A	ENSP00000401699:p.Arg124Met	NA	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	37	CCDS9443.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647499	0.47258	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.55930	0.54;0.54;0.49;0.49;0.51	5.94	5.94	0.96194	Cadherin (3);	0.000000	0.85682	D	0.000000	T	0.77611	0.4156	M	0.85197	2.74	0.58432	D	0.999998	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.77557	0.94;0.976;0.99;0.976	T	0.79638	-0.1720	10	0.87932	D	0	.	20.3591	0.98849	0.0:1.0:0.0:0.0	.	124;124;124;124	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	M	124	ENSP00000442186:R124M;ENSP00000367096:R124M;ENSP00000401699:R124M;ENSP00000332060:R124M;ENSP00000367092:R124M	ENSP00000332060:R124M	R	-	2	0	PCDH9	66700203	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.089000	0.71384	2.816000	0.96949	0.561000	0.74099	AGG	PCDH9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045214.2		-	ENST00000456367.1	Missense_Mutation	SNP	13 : 67802202 - 67802202 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	19
C16orf59	80178	broad.mit.edu	37	16	2511088	2511088	+	Translation_Start_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2511088G>A	ENST00000483320.1	+	0	580				C16orf59_ENST00000563531.1_Silent_p.R156R|C16orf59_ENST00000361837.4_Silent_p.R156R|C16orf59_ENST00000569496.1_Silent_p.R156R			Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	NA										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				CTGAGCGCCGGCTGCTGTCAG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	30	29			NA	NA	16		NA											NA				2511088		1959	4138	6097					AK023971	CCDS10468.2	16p13.3	2008-10-30			ENSG00000162062	ENSG00000162062	80178	80178			25849	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_025108	XM_006720955	NA	Approved	FLJ13909	uc002cqh.3	Q7L2K0	OTTHUMG00000128859	ENST00000483320.1:	16.37:g.2511088G>A		NA	B4DXD7|Q96H61|Q9H872	37																																																																																				C16orf59-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000250803.3		+	ENST00000483320.1	De_novo_Start_InFrame	SNP	16 : 2511088 - 2511088 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	31
PCDH15	65217	broad.mit.edu	37	10	55587172	55587172	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55587172C>T	ENST00000373965.2	-	33	4763	c.4369G>A	c.(4369-4371)Gaa>Aaa	p.E1457K	PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1447K|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1425K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.E1061K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.E1450K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1452K|PCDH15_ENST00000361849.3_Missense_Mutation_p.E1450K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1379K|PCDH15_ENST00000395438.1_Missense_Mutation_p.E1450K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1410K|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.E1457K	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1450					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCTCCAAGTTCTTCATAGAGA	0.552		NA								HNSCC(58;0.16)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	63	61			NA	NA	10		NA											NA				55587172		2203	4300	6503	SO:0001583	missense			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275	65217	65217		Cadherins / Cadherin-related	14674	protein-coding gene	gene with protein product	cadherin-related family member 15	605514	deafness, autosomal recessive 23, protocadherin 15	USH1F, DFNB23	NA	11398101, 14570705	Standard	NM_033056	NM_033056	NA	Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.4369G>A	10.37:g.55587172C>T	ENSP00000363076:p.Glu1457Lys	NA	A6NL19|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	37		.	.	.	.	.	.	.	.	.	.	C	36	5.692534	0.96793	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.65549	0.38;0.4;0.23;0.08;0.27;-0.05;-0.09;-0.02;-0.1;-0.11;-0.16	5.64	5.64	0.86602	.	.	.	.	.	T	0.77698	0.4169	L	0.61218	1.895	0.58432	D	0.999999	P;P;P;P;P;P;P;D;D;D;D;D;P	0.71674	0.773;0.919;0.864;0.749;0.946;0.864;0.773;0.998;0.995;0.997;0.997;0.995;0.919	B;P;B;B;P;B;B;D;P;D;P;P;P	0.79784	0.354;0.507;0.407;0.284;0.776;0.407;0.354;0.993;0.872;0.91;0.872;0.9;0.507	T	0.78687	-0.2107	9	0.87932	D	0	.	17.8351	0.88693	0.0:1.0:0.0:0.0	.	1425;1450;1450;1455;1379;1410;1447;1450;1457;1457;1450;1452;1450	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	K	1457;1452;1450;1450;1061;1457;1410;1450;1425;1450;1447;1455;1379	ENSP00000363076:E1457K;ENSP00000410304:E1452K;ENSP00000378826:E1450K;ENSP00000386693:E1061K;ENSP00000378832:E1457K;ENSP00000378820:E1410K;ENSP00000354950:E1450K;ENSP00000378821:E1425K;ENSP00000322604:E1450K;ENSP00000378818:E1447K;ENSP00000412628:E1379K	ENSP00000322604:E1450K	E	-	1	0	PCDH15	55257178	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.840000	0.75369	2.807000	0.96579	0.591000	0.81541	GAA	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000291336.1		-	ENST00000373965.2	Missense_Mutation	SNP	10 : 55587172 - 55587172 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	737	128
LGSN	51557	broad.mit.edu	37	6	63990442	63990442	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:63990442C>T	ENST00000370657.4	-	4	1047	c.1014G>A	c.(1012-1014)acG>acA	p.T338T	LGSN_ENST00000370658.5_Missense_Mutation_p.R198Q			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	338					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TCCCAGTGATCGTGAGCTGCT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	94	93			NA	NA	6		NA											NA				63990442		2202	4300	6502	SO:0001819	synonymous_variant			AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166	51557	51557			21016	protein-coding gene	gene with protein product		611470	glutamate-ammonia ligase (glutamine synthetase) domain containing 1	GLULD1	NA	12107412	Standard	NM_016571	NM_016571	NA	Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1014G>A	6.37:g.63990442C>T		NA	A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	37	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.755162	0.31046	.	.	ENSG00000146166	ENST00000370658	T	0.29655	1.56	5.55	-4.6	0.03390	.	.	.	.	.	T	0.05547	0.0146	.	.	.	0.09310	N	1	B	0.17852	0.024	B	0.08055	0.003	T	0.40365	-0.9567	8	0.29301	T	0.29	-8.7929	7.2324	0.26051	0.0:0.1424:0.351:0.5066	.	198	Q5TDP6-2	.	Q	198	ENSP00000359692:R198Q	ENSP00000359692:R198Q	R	-	2	0	LGSN	64048401	0.000000	0.05858	0.003000	0.11579	0.005000	0.04900	-2.323000	0.01117	-0.523000	0.06409	0.655000	0.94253	CGA	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041076.2		-	ENST00000370657.4	Silent	SNP	6 : 63990442 - 63990442 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	567	111
CES5A	221223	broad.mit.edu	37	16	55883597	55883597	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55883597G>A	ENST00000521992.1	-	12	1594	c.1449C>T	c.(1447-1449)caC>caT	p.H483H	CES5A_ENST00000518005.1_Silent_p.H348H|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000520435.1_Silent_p.H424H|CES5A_ENST00000319165.9_Intron|CES5A_ENST00000290567.9_Silent_p.H454H	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	454						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTTCATCAGCGTGGTCGGCTT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,,	0,3136		0,0,1568	155	135	141		1362,1449,	2.3	0.5	16		141	2,7162		0,2,3580	no	coding-synonymous,coding-synonymous,intron	CES5A	NM_001143685.1,NM_001190158.1,NM_145024.2	,,	0,2,5148	AA,AG,GG	NA	0.0279,0.0,0.0194	,,	454/576,483/605,	55883597	2,10298	1568	3582	5150	SO:0001819	synonymous_variant			AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	221223	221223	3.1.1.1	Carboxylesterases	26459	protein-coding gene	gene with protein product			carboxylesterase 7	CES7	NA	20931200	Standard	NM_145024	NM_145024	NA	Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000521992.1:c.1449C>T	16.37:g.55883597G>A		NA	B7ZLB6|Q8NBC8|Q96DN9	37	CCDS54012.1																																																																																			CES5A-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381289.1		-	ENST00000521992.1	Silent	SNP	16 : 55883597 - 55883597 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	555	112
ZNF71	58491	broad.mit.edu	37	19	57133840	57133840	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57133840G>A	ENST00000328070.6	+	3	1419	c.1185G>A	c.(1183-1185)tcG>tcA	p.S395S		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	395						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CGGGGCGCTCGTCCCTCATCG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	72	78			NA	NA	19		NA											NA				57133840		2203	4300	6503	SO:0001819	synonymous_variant			X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951	58491	58491		Zinc fingers, C2H2-type	13141	protein-coding gene	gene with protein product		194545	zinc finger protein 71 (Cos26)		NA	1639391	Standard	NM_021216	NM_021216	NA	Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.1185G>A	19.37:g.57133840G>A		NA	Q15919|Q9UC09|Q9UQD3	37	CCDS12947.1																																																																																			ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459798.2		+	ENST00000328070.6	Silent	SNP	19 : 57133840 - 57133840 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	422	73
NSUN7	79730	broad.mit.edu	37	4	40776811	40776811	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40776811G>T	ENST00000316607.5	+	6	1136	c.669G>T	c.(667-669)aaG>aaT	p.K223N	NSUN7_ENST00000463952.1_3'UTR|NSUN7_ENST00000381782.2_Missense_Mutation_p.K223N					NOP2/Sun domain family, member 7	NA										NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						ATAATTTGAAGAGAAGAGGCT	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	69	66			NA	NA	4		NA											NA				40776811		2197	4266	6463	SO:0001583	missense			BC036568	CCDS3461.2	4p14	2013-10-11	2009-11-23		ENSG00000179299	ENSG00000179299	79730	79730		NOP2/Sun domain containing	25857	protein-coding gene	gene with protein product			NOL1/NOP2/Sun domain family, member 7		NA	17442852	Standard	NM_024677	NM_024677	NA	Approved	FLJ14001	uc003gvj.4	Q8NE18	OTTHUMG00000128597	ENST00000316607.5:c.669G>T	4.37:g.40776811G>T	ENSP00000319127:p.Lys223Asn	NA		37		.	.	.	.	.	.	.	.	.	.	G	15.63	2.890198	0.52014	.	.	ENSG00000179299	ENST00000381782;ENST00000316607	T;T	0.09911	2.93;2.93	5.27	4.43	0.53597	.	0.255535	0.43416	D	0.000572	T	0.16769	0.0403	L	0.58810	1.83	0.37223	D	0.905312	P;B;P	0.44946	0.846;0.404;0.842	B;B;P	0.45971	0.372;0.376;0.499	T	0.07233	-1.0783	10	0.41790	T	0.15	-11.7078	13.5116	0.61515	0.0758:0.0:0.9242:0.0	.	223;223;223	Q8NE18;Q8NE18-2;Q8NE18-3	NSUN7_HUMAN;.;.	N	223	ENSP00000371201:K223N;ENSP00000319127:K223N	ENSP00000319127:K223N	K	+	3	2	NSUN7	40471568	1.000000	0.71417	0.822000	0.32727	0.942000	0.58702	2.565000	0.45939	1.351000	0.45789	0.655000	0.94253	AAG	NSUN7-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000250455.2		+	ENST00000316607.5	Missense_Mutation	SNP	4 : 40776811 - 40776811 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	31
STX3	6809	broad.mit.edu	37	11	59560935	59560935	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59560935T>C	ENST00000337979.4	+	8	1170	c.623T>C	c.(622-624)aTc>aCc	p.I208T	STX3_ENST00000529177.1_Missense_Mutation_p.I208T|STX3_ENST00000300150.7_Missense_Mutation_p.I177T|STX3_ENST00000535361.1_Missense_Mutation_p.I208T|STX3_ENST00000437946.2_Missense_Mutation_p.I111T	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	208	t-SNARE coiled-coil homology.				cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						GAGAGCAGCATCAAGGAGCTT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	109	118			NA	NA	11		NA											NA				59560935		2201	4295	6496	SO:0001583	missense			AJ002076	CCDS7975.1, CCDS53637.1	11q12.1	2008-02-05	2006-04-25	2006-04-25	ENSG00000166900	ENSG00000166900	6809	6809			11438	protein-coding gene	gene with protein product		600876	syntaxin 3A	STX3A	NA	16598260, 16339081	Standard	NM_004177	NM_004177	NA	Approved		uc001nog.3	Q13277	OTTHUMG00000167353	ENST00000337979.4:c.623T>C	11.37:g.59560935T>C	ENSP00000338562:p.Ile208Thr	NA	O43750|O43751|Q15360	37	CCDS7975.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.587465	0.86851	.	.	ENSG00000166900	ENST00000300150;ENST00000337979;ENST00000535361;ENST00000437946;ENST00000529177;ENST00000528805	T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25	5.1	5.1	0.69264	t-SNARE (1);Syntaxin/epimorphin, conserved site (1);Target SNARE coiled-coil domain (3);	0.096090	0.64402	D	0.000001	T	0.73575	0.3604	H	0.97829	4.085	0.58432	D	0.999991	D;D;D;D	0.76494	0.998;0.999;0.998;0.999	D;D;D;D	0.87578	0.998;0.994;0.989;0.994	D	0.83883	0.0280	10	0.87932	D	0	-14.0091	13.7201	0.62720	0.0:0.0:0.0:1.0	.	111;208;208;208	E7ET77;B4DME0;Q13277-2;Q13277	.;.;.;STX3_HUMAN	T	177;208;208;111;208;160	ENSP00000300150:I177T;ENSP00000338562:I208T;ENSP00000441649:I208T;ENSP00000393536:I111T;ENSP00000433248:I208T;ENSP00000431386:I160T	ENSP00000300150:I177T	I	+	2	0	STX3	59317511	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.537000	0.82033	1.909000	0.55274	0.528000	0.53228	ATC	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394264.1		+	ENST00000337979.4	Missense_Mutation	SNP	11 : 59560935 - 59560935 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	46
MTR	4548	broad.mit.edu	37	1	237057675	237057675	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237057675A>G	ENST00000366577.5	+	30	3617	c.3223A>G	c.(3223-3225)Agc>Ggc	p.S1075G	MTR_ENST00000470570.1_3'UTR|MTR_ENST00000535889.1_Missense_Mutation_p.S1024G	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1075	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GGACTCTGCCAGCACGGAGCC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	90	96			NA	NA	1		NA											NA				237057675		2203	4300	6503	SO:0001583	missense			U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	4548	4548	2.1.1.13		7468	protein-coding gene	gene with protein product		156570			NA	8968735	Standard	NM_000254	NM_000254	NA	Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.3223A>G	1.37:g.237057675A>G	ENSP00000355536:p.Ser1075Gly	NA	A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	37	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	A	7.104	0.574732	0.13623	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889;ENST00000366576	T;T;D	0.82984	-0.31;-0.31;-1.67	5.47	4.27	0.50696	Vitamin B12-dependent methionine synthase, activation domain (3);	0.270973	0.39544	N	0.001330	T	0.71550	0.3353	L	0.29908	0.895	0.22896	N	0.998596	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.59621	-0.7420	10	0.38643	T	0.18	-21.5817	8.9147	0.35574	0.6747:0.0:0.0:0.3253	.	1075;1024;1075	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	G	929;1075;1024;629	ENSP00000355536:S1075G;ENSP00000441845:S1024G;ENSP00000355535:S629G	ENSP00000355535:S629G	S	+	1	0	MTR	235124298	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	3.676000	0.54612	2.205000	0.71048	0.533000	0.62120	AGC	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096632.2		+	ENST00000366577.5	Missense_Mutation	SNP	1 : 237057675 - 237057675 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	380	101
TRIM2	23321	broad.mit.edu	37	4	154216846	154216846	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154216846G>A	ENST00000338700.5	+	6	1233	c.1168G>A	c.(1168-1170)Gcc>Acc	p.A390T	TRIM2_ENST00000437508.2_Missense_Mutation_p.A363T|TRIM2_ENST00000494872.1_3'UTR	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	363						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		AACCGGCAACGCCTACCTCAC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	71	71			NA	NA	4		NA											NA				154216846		2203	4300	6503	SO:0001583	missense			AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654	23321	23321		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	15974	protein-coding gene	gene with protein product		614141	tripartite motif-containing 2		NA	9628581, 11331580	Standard		NM_015271	NA	Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000338700.5:c.1168G>A	4.37:g.154216846G>A	ENSP00000339659:p.Ala390Thr	NA	O60272|Q9BSI9|Q9UFZ1	37	CCDS3781.2	.	.	.	.	.	.	.	.	.	.	G	32	5.189461	0.94923	.	.	ENSG00000109654	ENST00000437508;ENST00000338700	D;D	0.84589	-1.87;-1.87	5.29	5.29	0.74685	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.091921	0.85682	D	0.000000	D	0.93458	0.7913	M	0.88105	2.93	0.80722	D	1	D;D	0.76494	0.999;0.979	D;P	0.80764	0.994;0.525	D	0.92425	0.5949	10	0.33940	T	0.23	-0.104	19.2934	0.94112	0.0:0.0:1.0:0.0	.	390;363	D3DP09;Q9C040	.;TRIM2_HUMAN	T	363;390	ENSP00000415812:A363T;ENSP00000339659:A390T	ENSP00000339659:A390T	A	+	1	0	TRIM2	154436296	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.375000	0.97178	2.641000	0.89580	0.561000	0.74099	GCC	TRIM2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342649.3		+	ENST00000338700.5	Missense_Mutation	SNP	4 : 154216846 - 154216846 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	284	41
PADI4	23569	broad.mit.edu	37	1	17664602	17664602	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17664602G>A	ENST00000375448.4	+	5	504	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	160					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	AGACAATCTCGAATCTTCTGC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	128	136			NA	NA	1		NA											NA				17664602		2203	4300	6503	SO:0001583	missense			AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	23569	23569	3.5.3.15	Peptidyl arginine deiminases	18368	protein-coding gene	gene with protein product		605347	peptidyl arginine deiminase, type V	PADI5	NA	10488123	Standard	NM_012387	NM_012387	NA	Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.478G>A	1.37:g.17664602G>A	ENSP00000364597:p.Glu160Lys	NA	Q5VTZ8|Q70SX4	37	CCDS180.1	.	.	.	.	.	.	.	.	.	.	g	7.390	0.630670	0.14322	.	.	ENSG00000159339	ENST00000375448	T	0.16597	2.33	5.15	-10.3	0.00346	Protein-arginine deiminase (PAD), central domain (2);	1.431090	0.04168	N	0.324253	T	0.02455	0.0075	N	0.00237	-1.79	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.26538	-1.0100	10	0.09338	T	0.73	0.0019	3.264	0.06859	0.3132:0.3875:0.204:0.0953	.	160;160	A8K392;Q9UM07	.;PADI4_HUMAN	K	160	ENSP00000364597:E160K	ENSP00000364597:E160K	E	+	1	0	PADI4	17537189	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.930000	0.01557	-2.431000	0.00556	-2.173000	0.00322	GAA	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006799.1		+	ENST00000375448.4	Missense_Mutation	SNP	1 : 17664602 - 17664602 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	457	78
CAMKK1	84254	broad.mit.edu	37	17	3785616	3785616	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3785616G>A	ENST00000158166.5	-	8	882	c.734C>T	c.(733-735)gCc>gTc	p.A245V	CAMKK1_ENST00000348335.2_Intron|CAMKK1_ENST00000381769.2_Intron|CAMKK1_ENST00000381771.2_Missense_Mutation_p.A245V	NM_172207.2	NP_757344.2	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	228	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		GTGGGGCTTGGCGATATTTGT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	117	118			NA	NA	17		NA											NA				3785616		2203	4300	6503	SO:0001583	missense			AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660	84254	84254			1469	protein-coding gene	gene with protein product		611411			NA	11230166	Standard	NM_032294, NM_172206, NM_172207	NM_172207	NA	Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000158166.5:c.734C>T	17.37:g.3785616G>A	ENSP00000158166:p.Ala245Val	NA	Q9BQH3	37	CCDS11039.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.060710	0.36373	.	.	ENSG00000004660	ENST00000381771;ENST00000158166	T;T	0.73681	-0.77;-0.76	3.79	3.79	0.43588	.	.	.	.	.	T	0.60818	0.2298	N	0.21324	0.655	0.09310	N	1	B	0.18310	0.027	B	0.21546	0.035	T	0.46512	-0.9186	9	0.27082	T	0.32	-0.9455	11.4467	0.50127	0.0:0.0:1.0:0.0	.	245	F8W9H1	.	V	245	ENSP00000371190:A245V;ENSP00000158166:A245V	ENSP00000158166:A245V	A	-	2	0	CAMKK1	3732365	0.002000	0.14202	0.047000	0.18901	0.263000	0.26337	1.137000	0.31479	2.416000	0.81992	0.655000	0.94253	GCC	CAMKK1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207455.1		-	ENST00000158166.5	Missense_Mutation	SNP	17 : 3785616 - 3785616 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	467	68
MTHFD2L	441024	broad.mit.edu	37	4	75147231	75147231	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:75147231G>A	ENST00000325278.6	+	7	861	c.721G>A	c.(721-723)Gga>Aga	p.G241R	MTHFD2L_ENST00000395759.2_Missense_Mutation_p.G299R			Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	241					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			TCCAGTGACAGGAAAGACAAA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	125	125			NA	NA	4		NA											NA				75147231		2203	4300	6503	SO:0001583	missense			BC065771	CCDS47075.1	4q13.3	2011-08-03			ENSG00000163738	ENSG00000163738	441024	441024			31865	protein-coding gene	gene with protein product		614047			NA	21163947	Standard	NM_001004346	NM_001144978	NA	Approved	MGC72244	uc011cbk.2	Q9H903	OTTHUMG00000157135	ENST00000325278.6:c.721G>A	4.37:g.75147231G>A	ENSP00000321984:p.Gly241Arg	NA	Q6P079|Q8N560	37		.	.	.	.	.	.	.	.	.	.	G	22.4	4.290676	0.80914	.	.	ENSG00000163738	ENST00000395759;ENST00000359107;ENST00000325278	T;T;T	0.57752	0.38;0.38;0.38	5.78	4.94	0.65067	.	0.096735	0.64402	N	0.000001	T	0.68035	0.2957	M	0.88450	2.955	0.80722	D	1	P	0.49358	0.923	P	0.53549	0.729	T	0.69756	-0.5059	10	0.21540	T	0.41	-30.5517	12.6067	0.56527	0.0805:0.0:0.9195:0.0	.	299	Q9H903	MTD2L_HUMAN	R	299;241;241	ENSP00000379108:G299R;ENSP00000352012:G241R;ENSP00000321984:G241R	ENSP00000321984:G241R	G	+	1	0	MTHFD2L	75366095	1.000000	0.71417	0.999000	0.59377	0.828000	0.46876	6.102000	0.71486	1.459000	0.47892	0.580000	0.79431	GGA	MTHFD2L-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000347552.2		+	ENST00000325278.6	Missense_Mutation	SNP	4 : 75147231 - 75147231 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	350	81
RHOD	29984	broad.mit.edu	37	11	66834227	66834227	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66834227G>A	ENST00000533360.1	+	3	282	c.239G>A	c.(238-240)cGc>cAc	p.R80H	RHOD_ENST00000308831.2_Missense_Mutation_p.R80H|RHOD_ENST00000532559.1_Intron			O00212	RHOD_HUMAN	ras homolog family member D	80					regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			lung(3)	3						GACTATGACCGCCTGCGGCCC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	127	132			NA	NA	11		NA											NA				66834227		2200	4295	6495	SO:0001583	missense			D85815	CCDS8155.1, CCDS73330.1	11q14.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000173156	ENSG00000173156	29984	29984			670	protein-coding gene	gene with protein product	Rho-related protein HP1, Rho-related GTP-binding protein RhoD	605781	ras homolog gene family, member D	ARHD	NA	9116026	Standard	NM_014578	NM_014578	NA	Approved	RhoHP1, RhoD, Rho	uc001ojv.3	O00212	OTTHUMG00000167102	ENST00000533360.1:c.239G>A	11.37:g.66834227G>A	ENSP00000431167:p.Arg80His	NA		37		.	.	.	.	.	.	.	.	.	.	G	15.17	2.755124	0.49362	.	.	ENSG00000173156	ENST00000308831;ENST00000533360	T;T	0.77750	-1.12;-1.12	4.9	2.98	0.34508	Small GTP-binding protein domain (1);	0.000000	0.48767	D	0.000166	T	0.71978	0.3404	M	0.79614	2.46	0.80722	D	1	B	0.33748	0.423	B	0.24006	0.05	T	0.74182	-0.3748	10	0.87932	D	0	-19.3198	7.7208	0.28731	0.1975:0.0:0.8025:0.0	.	80	O00212	RHOD_HUMAN	H	80	ENSP00000308576:R80H;ENSP00000431167:R80H	ENSP00000308576:R80H	R	+	2	0	RHOD	66590803	1.000000	0.71417	1.000000	0.80357	0.218000	0.24690	6.808000	0.75206	1.301000	0.44836	-0.136000	0.14681	CGC	RHOD-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000393137.1		+	ENST00000533360.1	Missense_Mutation	SNP	11 : 66834227 - 66834227 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	806	141
CLIP1	6249	broad.mit.edu	37	12	122862247	122862247	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122862247C>T	ENST00000302528.7	-	2	453	c.346G>A	c.(346-348)Ggc>Agc	p.G116S	CLIP1_ENST00000358808.2_Missense_Mutation_p.G116S|CLIP1_ENST00000361654.4_Missense_Mutation_p.G116S|CLIP1_ENST00000537178.1_Missense_Mutation_p.G116S|CLIP1_ENST00000540338.1_Missense_Mutation_p.G116S			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	116	CAP-Gly 1.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GTAAATATGCCCTTTAAAGGT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	102	105			NA	NA	12		NA											NA				122862247		2203	4300	6503	SO:0001583	missense				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779	6249	6249			10461	protein-coding gene	gene with protein product	restin	179838	restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)	RSN	NA	8222754	Standard	NM_002956	NM_001247997	NA	Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000302528.7:c.346G>A	12.37:g.122862247C>T	ENSP00000303585:p.Gly116Ser	NA	A0AVD3|Q17RS4|Q29RG0	37	CCDS9232.1	.	.	.	.	.	.	.	.	.	.	C	36	5.823363	0.96989	.	.	ENSG00000130779	ENST00000302528;ENST00000358808;ENST00000537178;ENST00000540338;ENST00000540304;ENST00000537004	D;D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45;-2.45	5.81	5.81	0.92471	Cytoskeleton-associated protein, Gly-rich domain (4);	0.000000	0.85682	D	0.000000	D	0.97666	0.9235	H	0.99794	4.785	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.99023	1.0818	10	0.87932	D	0	-16.0398	20.0912	0.97820	0.0:1.0:0.0:0.0	.	116;116;116;116	F6VGP8;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	S	116	ENSP00000303585:G116S;ENSP00000351665:G116S;ENSP00000445531:G116S;ENSP00000439093:G116S;ENSP00000437786:G116S;ENSP00000441409:G116S	ENSP00000303585:G116S	G	-	1	0	CLIP1	121428200	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.696000	0.84270	2.746000	0.94184	0.591000	0.81541	GGC	CLIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401619.1		-	ENST00000302528.7	Missense_Mutation	SNP	12 : 122862247 - 122862247 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	583	119
HRNR	388697	broad.mit.edu	37	1	152192207	152192207	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152192207G>A	ENST00000368801.2	-	3	1973	c.1898C>T	c.(1897-1899)tCt>tTt	p.S633F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	633					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)			GTGGCTGGAAGACTGACCTGA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													250	243	245			NA	NA	1		NA											NA				152192207		2203	4297	6500	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.1898C>T	1.37:g.152192207G>A	ENSP00000357791:p.Ser633Phe	NA	Q5U1F4	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	5.680	0.309977	0.10733	.	.	ENSG00000197915	ENST00000368801	T	0.03982	3.74	3.7	2.77	0.32553	.	.	.	.	.	T	0.02533	0.0077	N	0.19112	0.55	0.09310	N	1	D	0.60160	0.987	P	0.56612	0.802	T	0.50516	-0.8819	9	0.25751	T	0.34	.	10.104	0.42521	0.0:0.0:0.7977:0.2023	.	633	Q86YZ3	HORN_HUMAN	F	633	ENSP00000357791:S633F	ENSP00000357791:S633F	S	-	2	0	HRNR	150458831	0.031000	0.19500	0.009000	0.14445	0.002000	0.02628	0.924000	0.28777	0.753000	0.32945	-0.194000	0.12790	TCT	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034016.1		-	ENST00000368801.2	Missense_Mutation	SNP	1 : 152192207 - 152192207 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2027	299
GSTA2	2939	broad.mit.edu	37	6	52622689	52622689	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52622689G>A	ENST00000493422.1	-	2	212	c.57C>T	c.(55-57)atC>atT	p.I19I		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	19	GST N-terminal.			I -> T (in Ref. 6; AA sequence).	glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	GGAGCCACCGGATGGACTCCA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	110	112			NA	NA	6		NA											NA				52622689		2203	4300	6503	SO:0001819	synonymous_variant			AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2939	2939	2.5.1.18	Glutathione S-transferases / Soluble	4627	protein-coding gene	gene with protein product		138360	glutathione S-transferase A2	GST2	NA		Standard	NM_000846	NM_000846	NA	Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.57C>T	6.37:g.52622689G>A		NA	Q12759|Q16491|Q9NTY6	37	CCDS4944.1																																																																																			GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043589.1		-	ENST00000493422.1	Silent	SNP	6 : 52622689 - 52622689 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	526	92
POGK	57645	broad.mit.edu	37	1	166818370	166818370	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166818370A>G	ENST00000367875.1	+	5	914	c.554A>G	c.(553-555)gAc>gGc	p.D185G	POGK_ENST00000536514.1_Missense_Mutation_p.D100G|POGK_ENST00000537173.1_Missense_Mutation_p.D67G|POGK_ENST00000367876.4_Missense_Mutation_p.D185G			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	185					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						TCGGCTGATGACATAGCTGGG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(76;192 1530 30153 48742)							NA				0													84	74	77			NA	NA	1		NA											NA				166818370		2203	4300	6503	SO:0001583	missense			AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157	57645	57645		-	18800	protein-coding gene	gene with protein product	KRAB box domain containing 2				NA		Standard	NM_017542	NM_017542	NA	Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.554A>G	1.37:g.166818370A>G	ENSP00000356849:p.Asp185Gly	NA	Q8TE07	37	CCDS1254.1	.	.	.	.	.	.	.	.	.	.	A	17.25	3.342365	0.61073	.	.	ENSG00000143157	ENST00000537173;ENST00000536514;ENST00000449930;ENST00000367876;ENST00000367875	T;T;T;T;T	0.37752	1.25;1.18;4.21;4.56;4.56	5.39	5.39	0.77823	.	0.128839	0.35040	N	0.003481	T	0.26521	0.0648	N	0.24115	0.695	0.31956	N	0.609032	D;D;D	0.71674	0.998;0.996;0.989	P;P;P	0.60886	0.88;0.762;0.762	T	0.08310	-1.0728	9	0.26408	T	0.33	-35.2945	11.7317	0.51741	1.0:0.0:0.0:0.0	.	67;100;185	G3V1P0;B4DS22;Q9P215	.;.;POGK_HUMAN	G	67;100;185;185;185	ENSP00000442763:D67G;ENSP00000441187:D100G;ENSP00000404402:D185G;ENSP00000356850:D185G;ENSP00000356849:D185G	ENSP00000356849:D185G	D	+	2	0	POGK	165084994	0.903000	0.30736	0.095000	0.20976	0.917000	0.54804	3.892000	0.56235	2.263000	0.75096	0.533000	0.62120	GAC	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000082888.1		+	ENST00000367875.1	Missense_Mutation	SNP	1 : 166818370 - 166818370 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	364	71
C15orf54	400360	broad.mit.edu	37	15	39544706	39544706	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:39544706C>T	ENST00000318578.3	+	2	738	c.370C>T	c.(370-372)Cct>Tct	p.P124S	RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA|C15orf54_ENST00000561223.1_Missense_Mutation_p.P124S	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	124										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		TGCACAGAAACCTCAGTCTCC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	119	124			NA	NA	15		NA											NA				39544706		2200	4297	6497	SO:0001583	missense				CCDS10049.1	15q14	2014-09-10			ENSG00000175746	ENSG00000175746	400360	400360			33797	protein-coding gene	gene with protein product					NA		Standard	NM_207445	NM_207445	NA	Approved	FLJ39531	uc001zkg.2	Q8N8G6	OTTHUMG00000129843	ENST00000318578.3:c.370C>T	15.37:g.39544706C>T	ENSP00000323686:p.Pro124Ser	NA	B7ZVZ9	37	CCDS10049.1	.	.	.	.	.	.	.	.	.	.	C	7.673	0.687291	0.14973	.	.	ENSG00000175746	ENST00000318578	T	0.40756	1.02	5.07	2.71	0.32032	.	.	.	.	.	T	0.23965	0.0580	N	0.08118	0	0.09310	N	0.999994	B	0.12013	0.005	B	0.10450	0.005	T	0.22800	-1.0206	9	0.87932	D	0	.	9.227	0.37414	0.6178:0.3822:0.0:0.0	.	124	Q8N8G6	CO054_HUMAN	S	124	ENSP00000323686:P124S	ENSP00000323686:P124S	P	+	1	0	C15orf54	37331998	0.710000	0.27896	0.189000	0.23252	0.044000	0.14063	1.137000	0.31479	0.387000	0.25024	-0.262000	0.10625	CCT	C15orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252083.1		+	ENST00000318578.3	Missense_Mutation	SNP	15 : 39544706 - 39544706 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	708	123
SYTL3	94120	broad.mit.edu	37	6	159084345	159084345	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159084345C>T	ENST00000297239.9	+	3	239	c.45C>T	c.(43-45)cgC>cgT	p.R15R	SYTL3_ENST00000367081.3_5'UTR|SYTL3_ENST00000360448.3_Silent_p.R15R			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	15	RabBD.				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding	p.R15R(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		AGTTAGAACGCGAGGCCATTC	0.552		NA											C	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	8e-04	SNP								NA				1	Substitution - coding silent(1)	endometrium(1)											86	74	78			NA	NA	6		NA											NA				159084345		2203	4300	6503	SO:0001819	synonymous_variant			AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674	94120	94120			15587	protein-coding gene	gene with protein product					NA	11773082	Standard		NM_001242384	NA	Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.45C>T	6.37:g.159084345C>T		NA	Q496J4|Q496J6|Q5U3B9	37	CCDS56458.1																																																																																			SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042876.1		+	ENST00000297239.9	Silent	SNP	6 : 159084345 - 159084345 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	29
SHANK2	22941	broad.mit.edu	37	11	70319395	70319395	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70319395G>A	ENST00000409161.1	-	10	3340	c.3341C>T	c.(3340-3342)cCt>cTt	p.P1114L	SHANK2_ENST00000449833.2_Missense_Mutation_p.P1115L|SHANK2_ENST00000338508.4_Missense_Mutation_p.P1711L|SHANK2_ENST00000423696.2_Missense_Mutation_p.P1331L			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1331					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CGAGACCACAGGGCTTGGGGC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	57	57			NA	NA	11		NA											NA				70319395		2200	4294	6494	SO:0001583	missense			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105	22941	22941		Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	14295	protein-coding gene	gene with protein product		603290	cortactin binding protein 1	CORTBP1	NA	10506216	Standard	NM_012309	XM_005277930	NA	Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000409161.1:c.3341C>T	11.37:g.70319395G>A	ENSP00000386491:p.Pro1114Leu	NA	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	37		.	.	.	.	.	.	.	.	.	.	G	21.4	4.148873	0.78001	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.59083	1.8;1.81;2.57;0.29;1.89;1.96	5.91	5.91	0.95273	.	0.047883	0.85682	D	0.000000	T	0.75072	0.3800	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.969	D;D;P	0.91635	0.983;0.999;0.757	T	0.74262	-0.3722	10	0.59425	D	0.04	.	20.3018	0.98617	0.0:0.0:1.0:0.0	.	1331;1710;1115	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	L	1115;1114;989;1711;1331;1349;1334	ENSP00000399423:P1115L;ENSP00000386491:P1114L;ENSP00000402944:P989L;ENSP00000345193:P1711L;ENSP00000394536:P1331L;ENSP00000294018:P1334L	ENSP00000294018:P1334L	P	-	2	0	SHANK2	69997043	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.238000	0.65366	2.799000	0.96334	0.650000	0.86243	CCT	SHANK2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000259184.1		-	ENST00000409161.1	Missense_Mutation	SNP	11 : 70319395 - 70319395 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	413	77
SCG2	7857	broad.mit.edu	37	2	224463404	224463404	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:224463404T>A	ENST00000305409.2	-	2	829	c.597A>T	c.(595-597)gaA>gaT	p.E199D		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	199					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GGAAGACAGATTCCAATGTAG	0.423		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	2		NA											NA				224463404		2203	4300	6503	SO:0001583	missense			M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951	7857	7857			10575	protein-coding gene	gene with protein product	secretoneurin, chromogranin C	118930			NA	8617499, 16101435	Standard	NM_003469	NM_003469	NA	Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.597A>T	2.37:g.224463404T>A	ENSP00000304133:p.Glu199Asp	NA	B2R662|Q53T11|Q8TBH3	37	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	T	16.72	3.201959	0.58234	.	.	ENSG00000171951	ENST00000305409	T	0.01745	4.66	5.65	-0.275	0.12906	.	0.199090	0.45361	D	0.000371	T	0.06142	0.0159	L	0.60455	1.87	0.36118	D	0.845319	D	0.71674	0.998	D	0.67725	0.953	T	0.11991	-1.0565	10	0.62326	D	0.03	.	12.1782	0.54198	0.0:0.5511:0.0:0.4489	.	199	P13521	SCG2_HUMAN	D	199	ENSP00000304133:E199D	ENSP00000304133:E199D	E	-	3	2	SCG2	224171648	0.216000	0.23585	0.999000	0.59377	0.990000	0.78478	-0.391000	0.07323	0.146000	0.19002	0.477000	0.44152	GAA	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256870.2		-	ENST00000305409.2	Missense_Mutation	SNP	2 : 224463404 - 224463404 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	896	154
ZW10	9183	broad.mit.edu	37	11	113610060	113610060	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113610060T>G	ENST00000200135.3	-	12	1772	c.1628A>C	c.(1627-1629)aAc>aCc	p.N543T		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	543					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		CATACAGTTGTTGTGATGAAT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	140	146			NA	NA	11		NA											NA				113610060		2201	4296	6497	SO:0001583	missense			U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827	9183	9183			13194	protein-coding gene	gene with protein product		603954	ZW10 (Drosophila) homolog, centromere/kinetochore protein, ZW10, kinetochore associated, homolog (Drosophila)		NA	9298984	Standard	NM_004724	NM_004724	NA	Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.1628A>C	11.37:g.113610060T>G	ENSP00000200135:p.Asn543Thr	NA		37	CCDS8363.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.310377	0.81358	.	.	ENSG00000086827	ENST00000200135	T	0.75704	-0.96	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.86818	0.6024	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88631	0.3169	10	0.87932	D	0	-19.3846	15.9494	0.79820	0.0:0.0:0.0:1.0	.	543	O43264	ZW10_HUMAN	T	543	ENSP00000200135:N543T	ENSP00000200135:N543T	N	-	2	0	ZW10	113115270	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.698000	0.84413	2.167000	0.68274	0.482000	0.46254	AAC	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398700.1		-	ENST00000200135.3	Missense_Mutation	SNP	11 : 113610060 - 113610060 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	499	83
FLT1	2321	broad.mit.edu	37	13	28901672	28901672	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28901672A>C	ENST00000282397.4	-	20	2974	c.2723T>G	c.(2722-2724)aTt>aGt	p.I908S	FLT1_ENST00000540678.1_Missense_Mutation_p.I126S	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	908	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GTATTCAACAATCACCATCAG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	75	77			NA	NA	13		NA											NA				28901672		2203	4300	6503	SO:0001583	missense			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2321	2321	2.7.10.1	Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	3763	protein-coding gene	gene with protein product	vascular endothelial growth factor receptor 1, vascular permeability factor receptor	165070	fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)	FLT	NA	2158038	Standard		NM_001159920	NA	Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2723T>G	13.37:g.28901672A>C	ENSP00000282397:p.Ile908Ser	NA	A8KA71|O60722|P16057|Q12954	37	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.515385	0.85389	.	.	ENSG00000102755	ENST00000282397;ENST00000540678	D;D	0.86432	-2.12;-2.12	5.8	5.8	0.92144	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94483	0.8224	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95345	0.8441	10	0.87932	D	0	.	16.1412	0.81522	1.0:0.0:0.0:0.0	.	908	P17948	VGFR1_HUMAN	S	908;126	ENSP00000282397:I908S;ENSP00000443311:I126S	ENSP00000282397:I908S	I	-	2	0	FLT1	27799672	1.000000	0.71417	0.970000	0.41538	0.995000	0.86356	9.339000	0.96797	2.216000	0.71823	0.402000	0.26972	ATT	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044322.1		-	ENST00000282397.4	Missense_Mutation	SNP	13 : 28901672 - 28901672 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	222	34
FAT2	2196	broad.mit.edu	37	5	150930195	150930195	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150930195A>C	ENST00000261800.5	-	7	4546	c.4534T>G	c.(4534-4536)Ttg>Gtg	p.L1512V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1512	Cadherin 13.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCGAGGTCCAATTTTCCCACC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	88	91			NA	NA	5		NA											NA				150930195		2203	4300	6503	SO:0001583	missense			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570	2196	2196		Cadherins / Cadherin-related	3596	protein-coding gene	gene with protein product	cadherin-related family member 9	604269	FAT tumor suppressor (Drosophila) homolog 2, FAT tumor suppressor homolog 2 (Drosophila)		NA	9693030	Standard	NM_001447	NM_001447	NA	Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.4534T>G	5.37:g.150930195A>C	ENSP00000261800:p.Leu1512Val	NA	O75091|Q9NSR7	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	A	12.24	1.878017	0.33162	.	.	ENSG00000086570	ENST00000261800	T	0.73152	-0.72	4.96	-1.55	0.08558	Cadherin (4);Cadherin-like (1);	0.136124	0.32901	N	0.005516	D	0.83408	0.5248	M	0.92604	3.325	0.40652	D	0.982044	D	0.64830	0.994	D	0.63597	0.916	T	0.82872	-0.0242	10	0.72032	D	0.01	.	10.8168	0.46580	0.3463:0.0:0.6537:0.0	.	1512	Q9NYQ8	FAT2_HUMAN	V	1512	ENSP00000261800:L1512V	ENSP00000261800:L1512V	L	-	1	2	FAT2	150910388	0.976000	0.34144	0.423000	0.26634	0.024000	0.10985	0.208000	0.17415	-0.781000	0.04548	-0.248000	0.11899	TTG	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252434.1		-	ENST00000261800.5	Missense_Mutation	SNP	5 : 150930195 - 150930195 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	446	102
CADM2	253559	broad.mit.edu	37	3	86010637	86010637	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:86010637G>A	ENST00000383699.3	+	8	1437	c.810G>A	c.(808-810)tgG>tgA	p.W270*	CADM2_ENST00000407528.2_Nonsense_Mutation_p.W261*|CADM2_ENST00000405615.2_Nonsense_Mutation_p.W263*	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	261	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CTGTTTTGTGGACAAAGGATG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	141	142			NA	NA	3		NA											NA				86010637		2203	4300	6503	SO:0001587	stop_gained			AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161	253559	253559		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing	29849	protein-coding gene	gene with protein product	nectin-like 3	609938	immunoglobulin superfamily, member 4D	IGSF4D	NA		Standard	NM_153184	NM_153184	NA	Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000383699.3:c.810G>A	3.37:g.86010637G>A	ENSP00000373200:p.Trp270*	NA	Q3KQY9|Q658Q7|Q8IZP8	37	CCDS54613.1	.	.	.	.	.	.	.	.	.	.	G	37	6.101767	0.97286	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3281	0.94270	0.0:0.0:1.0:0.0	.	.	.	.	X	270;261;263	.	ENSP00000373200:W270X	W	+	3	0	CADM2	86093327	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.388000	0.97237	2.629000	0.89072	0.650000	0.86243	TGG	CADM2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352818.2		+	ENST00000383699.3	Nonsense_Mutation	SNP	3 : 86010637 - 86010637 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	794	141
SPACA3	124912	broad.mit.edu	37	17	31322708	31322708	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:31322708G>A	ENST00000580599.1	+	3	518	c.109G>A	c.(109-111)Gga>Aga	p.G37R	SPACA3_ENST00000269053.3_Missense_Mutation_p.G106R|SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000394638.1_Intron			Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	106					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			CGGGCTGGACGGATACCGGGG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	61	71			NA	NA	17		NA											NA				31322708		2203	4300	6503	SO:0001583	missense			AF216311, AF099029	CCDS11275.1	17q12	2014-07-23			ENSG00000141316	ENSG00000141316	124912	124912			16260	protein-coding gene	gene with protein product	cancer/testis antigen 54, sperm lyzozyme-like acrosomal protein 1	612749			NA	12606493	Standard	NM_173847	NM_173847	NA	Approved	ALLP17, SLLP1, LYC3, LYZL3, CT54	uc002hhs.1	Q8IXA5	OTTHUMG00000132886	ENST00000580599.1:c.109G>A	17.37:g.31322708G>A	ENSP00000463386:p.Gly37Arg	NA	Q7Z4Y5	37		.	.	.	.	.	.	.	.	.	.	g	16.96	3.266508	0.59540	.	.	ENSG00000141316	ENST00000269053;ENST00000394637	T	0.71817	-0.6	3.94	3.94	0.45596	Lysozyme-like domain (1);	0.000000	0.64402	D	0.000001	T	0.79240	0.4412	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.80752	-0.1242	10	0.87932	D	0	-9.2107	11.7831	0.52026	0.0:0.0:1.0:0.0	.	106	Q8IXA5	SACA3_HUMAN	R	106;107	ENSP00000269053:G106R	ENSP00000269053:G106R	G	+	1	0	SPACA3	28346821	1.000000	0.71417	0.440000	0.26846	0.640000	0.38277	4.350000	0.59392	2.510000	0.84645	0.443000	0.29094	GGA	SPACA3-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000447512.1		+	ENST00000580599.1	Missense_Mutation	SNP	17 : 31322708 - 31322708 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	199	30
DSP	1832	broad.mit.edu	37	6	7580632	7580632	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7580632G>A	ENST00000379802.3	+	23	4550	c.4209G>A	c.(4207-4209)agG>agA	p.R1403R	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1403	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAGAAAACAGGAGCTTATCTG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	66	65			NA	NA	6		NA											NA				7580632		2203	4300	6503	SO:0001819	synonymous_variant			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696	1832	1832			3052	protein-coding gene	gene with protein product		125647	desmoplakin (DPI, DPII)		NA	1889810	Standard	NM_004415	NM_004415	NA	Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.4209G>A	6.37:g.7580632G>A		NA	B2RTT2|O75993|Q14189|Q9UHN4	37	CCDS4501.1																																																																																			DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039786.2		+	ENST00000379802.3	Silent	SNP	6 : 7580632 - 7580632 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	376	75
MROH9	80133	broad.mit.edu	37	1	170959134	170959134	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:170959134C>T	ENST00000367758.3	+	11	1117	c.1018C>T	c.(1018-1020)Cca>Tca	p.P340S	MROH9_ENST00000367759.4_Missense_Mutation_p.P340S	NM_025063.2	NP_079339.2			maestro heat-like repeat family member 9	NA											NA						CTACCCAGTTCCAGCAGACGA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	80	82			NA	NA	1		NA											NA				170959134		1928	4140	6068	SO:0001583	missense			AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501	80133	80133		maestro heat-like repeat containing	26287	protein-coding gene	gene with protein product			chromosome 1 open reading frame 129	C1orf129	NA		Standard	NM_025063	NM_025063	NA	Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1018C>T	1.37:g.170959134C>T	ENSP00000356732:p.Pro340Ser	NA		37	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.841288	0.51057	.	.	ENSG00000117501	ENST00000367759;ENST00000367758	T;T	0.39787	2.84;1.06	5.18	5.18	0.71444	Armadillo-like helical (1);	0.000000	0.64402	D	0.000016	T	0.55545	0.1927	M	0.69823	2.125	0.35261	D	0.779558	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.63278	-0.6673	10	0.87932	D	0	-12.2862	14.1871	0.65612	0.0:1.0:0.0:0.0	.	340;340	F5GWX6;Q5TGP6	.;CA129_HUMAN	S	340	ENSP00000356733:P340S;ENSP00000356732:P340S	ENSP00000356732:P340S	P	+	1	0	C1orf129	169225758	1.000000	0.71417	0.998000	0.56505	0.154000	0.21943	3.545000	0.53648	2.402000	0.81655	0.467000	0.42956	CCA	MROH9-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000099327.1		+	ENST00000367758.3	Missense_Mutation	SNP	1 : 170959134 - 170959134 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	287	47
CPO	130749	broad.mit.edu	37	2	207824432	207824432	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207824432T>C	ENST00000272852.3	+	5	496	c.450T>C	c.(448-450)ctT>ctC	p.L150L		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	150					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		TTCCAGTTCTTAACATAGATG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	111	113			NA	NA	2		NA											NA				207824432		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410	130749	130749			21011	protein-coding gene	gene with protein product	metallocarboxypeptidase O, metallocarboxypeptidase C	609563			NA	11836249	Standard	NM_173077	NM_173077	NA	Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.450T>C	2.37:g.207824432T>C		NA	Q2M277|Q7RTW7	37	CCDS2372.1																																																																																			CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000202040.2		+	ENST00000272852.3	Silent	SNP	2 : 207824432 - 207824432 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	271	7
TTC40	0	broad.mit.edu	37	10	134622044	134622044	+	Missense_Mutation	SNP	G	G	A	rs138118152		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134622044G>A	ENST00000368586.5	-	58	8129	c.8029C>T	c.(8029-8031)Cgg>Tgg	p.R2677W	TTC40_ENST00000263170.5_Missense_Mutation_p.R838W	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN		838										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CTCCAGCCCCGACGCAGACCC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG	0,4406		0,0,2203	37	45	42		2965	-2	0	10	dbSNP_134	42	1,8595	1.2+/-3.3	0,1,4297	no	missense	C10orf92	NM_001200049.1	101	0,1,6500	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	989/1028	134622044	1,13001	2203	4298	6501	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000368586.5:c.8029C>T	10.37:g.134622044G>A	ENSP00000357575:p.Arg2677Trp	NA	Q5JSF7|Q9NTQ5	37	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	G	8.770	0.925596	0.18056	0.0	1.16E-4	ENSG00000171811	ENST00000368586;ENST00000263170	T;T	0.16457	2.68;2.34	1.36	-2.04	0.07343	.	.	.	.	.	T	0.07007	0.0178	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.01281	0.0	T	0.33369	-0.9871	9	0.87932	D	0	.	2.7259	0.05214	0.2584:0.386:0.3556:0.0	.	838	Q8IYW2	CJ092_HUMAN	W	2677;838	ENSP00000357575:R2677W;ENSP00000263170:R838W	ENSP00000263170:R838W	R	-	1	2	C10orf93	134472034	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-4.662000	0.00201	-0.144000	0.11314	0.478000	0.44815	CGG	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051095.3		-	ENST00000368586.5	Missense_Mutation	SNP	10 : 134622044 - 134622044 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	620	143
ZNF335	63925	broad.mit.edu	37	20	44592534	44592534	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44592534G>T	ENST00000322927.2	-	8	1298	c.1198C>A	c.(1198-1200)Ctg>Atg	p.L400M	ZNF335_ENST00000426788.1_Missense_Mutation_p.L245M	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				ATGGCCACCAGGTGTCCTGGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	49	51			NA	NA	20		NA											NA				44592534		2203	4300	6503	SO:0001583	missense			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026	63925	63925		Zinc fingers, C2H2-type	15807	protein-coding gene	gene with protein product	NRC-interacting factor 1	610827			NA	12215545, 19131338	Standard	NM_022095	NM_022095	NA	Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.1198C>A	20.37:g.44592534G>T	ENSP00000325326:p.Leu400Met	NA	B4DLG7|Q548D0|Q9H684	37	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	G	8.668	0.902203	0.17760	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.09445	3.12;2.98	4.43	2.4	0.29515	.	0.911529	0.09339	N	0.815734	T	0.10551	0.0258	N	0.19112	0.55	0.09310	N	1	P;P	0.41848	0.763;0.651	P;B	0.47528	0.549;0.241	T	0.34502	-0.9826	10	0.35671	T	0.21	-2.7554	7.4038	0.26979	0.2087:0.0:0.7913:0.0	.	245;400	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	M	400;177;245	ENSP00000325326:L400M;ENSP00000397098:L245M	ENSP00000243961:L177M	L	-	1	2	ZNF335	44025941	0.001000	0.12720	0.047000	0.18901	0.374000	0.29953	0.760000	0.26475	1.077000	0.40990	0.555000	0.69702	CTG	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079553.1		-	ENST00000322927.2	Missense_Mutation	SNP	20 : 44592534 - 44592534 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	332	32
UNC13C	440279	broad.mit.edu	37	15	54307992	54307992	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54307992G>T	ENST00000260323.11	+	1	2892	c.2892G>T	c.(2890-2892)aaG>aaT	p.K964N	UNC13C_ENST00000545554.1_Missense_Mutation_p.K964N|UNC13C_ENST00000537900.1_Missense_Mutation_p.K964N	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	964					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGATCACAAAGCCAAAGAGAA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	61	62			NA	NA	15		NA											NA				54307992		1853	4093	5946	SO:0001583	missense			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766	440279	440279			23149	protein-coding gene	gene with protein product		614568			NA		Standard	NM_173166	NM_001080534	NA	Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.2892G>T	15.37:g.54307992G>T	ENSP00000260323:p.Lys964Asn	NA	Q0P613|Q8ND48|Q96NP3	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311224	0.23821	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.79940	-1.32;-1.31;-1.32	5.58	4.47	0.54385	.	.	.	.	.	T	0.79161	0.4399	L	0.29908	0.895	0.31722	N	0.638127	D	0.67145	0.996	P	0.54544	0.755	T	0.76531	-0.2925	9	0.25751	T	0.34	.	14.4467	0.67356	0.0835:0.0:0.9165:0.0	.	964	Q8NB66	UN13C_HUMAN	N	964	ENSP00000260323:K964N;ENSP00000438156:K964N;ENSP00000442569:K964N	ENSP00000260323:K964N	K	+	3	2	UNC13C	52095284	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.806000	0.47947	2.635000	0.89317	0.650000	0.86243	AAG	UNC13C-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419028.3		+	ENST00000260323.11	Missense_Mutation	SNP	15 : 54307992 - 54307992 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	100	24
EML1	2009	broad.mit.edu	37	14	100404186	100404186	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100404186G>A	ENST00000262233.6	+	20	2267	c.2128G>A	c.(2128-2130)Gtg>Atg	p.V710M	EML1_ENST00000327921.9_Missense_Mutation_p.V698M|EML1_ENST00000334192.4_Missense_Mutation_p.V729M	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	710						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				AGTCGTAAGTGTGGAAACTAC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													269	231	244			NA	NA	14		NA											NA				100404186		2203	4300	6503	SO:0001583	missense			AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629	2009	2009		WD repeat domain containing	3330	protein-coding gene	gene with protein product		602033		EMAPL	NA	9226380, 10521658	Standard	NM_001008707	XM_005267397	NA	Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.2128G>A	14.37:g.100404186G>A	ENSP00000262233:p.Val710Met	NA	Q86U15|Q8N536|Q8N5C4|Q8WWL6	37	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993268	0.54041	.	.	ENSG00000066629	ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	T;T;T	0.18174	2.23;2.23;2.23	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.15998	0.0385	N	0.13098	0.295	0.80722	D	1	B;B;B	0.30326	0.156;0.004;0.276	B;B;B	0.39185	0.151;0.004;0.293	T	0.16958	-1.0385	10	0.40728	T	0.16	-8.1253	18.1469	0.89661	0.0:0.0:1.0:0.0	.	698;710;729	F8W717;O00423;O00423-3	.;EMAL1_HUMAN;.	M	698;710;729;729	ENSP00000327384:V698M;ENSP00000262233:V710M;ENSP00000334314:V729M	ENSP00000262233:V710M	V	+	1	0	EML1	99473939	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.549000	0.82163	2.364000	0.80123	0.561000	0.74099	GTG	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413943.1		+	ENST00000262233.6	Missense_Mutation	SNP	14 : 100404186 - 100404186 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	577	91
CCDC173	129881	broad.mit.edu	37	2	170502626	170502626	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170502626C>T	ENST00000447353.1	-	9	1489	c.1384G>A	c.(1384-1386)Gct>Act	p.A462T		NM_001085447.1	NP_001078916.1			coiled-coil domain containing 173	NA											NA						GCCACAAGAGCTTCAGTAAGT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													220	221	221			NA	NA	2		NA											NA				170502626		1846	4087	5933	SO:0001583	missense			BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479	129881	129881			25064	protein-coding gene	gene with protein product	hypothetical LOC129881		chromosome 2 open reading frame 77	C2orf77	NA	12477932	Standard	NM_001085447	NM_001085447	NA	Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.1384G>A	2.37:g.170502626C>T	ENSP00000391504:p.Ala462Thr	NA		37	CCDS46445.1	.	.	.	.	.	.	.	.	.	.	C	6.754	0.508052	0.12883	.	.	ENSG00000154479	ENST00000447353	.	.	.	5.72	3.94	0.45596	.	0.700289	0.10108	U	0.715103	T	0.43853	0.1266	M	0.67953	2.075	0.09310	N	1	B	0.15930	0.015	B	0.23419	0.046	T	0.42481	-0.9449	9	0.15066	T	0.55	.	6.3099	0.21159	0.2459:0.6238:0.0:0.1303	.	462	Q0VFZ6	CB077_HUMAN	T	462	.	ENSP00000391504:A462T	A	-	1	0	C2orf77	170210872	0.009000	0.17119	0.345000	0.25642	0.932000	0.56968	-0.155000	0.10115	0.895000	0.36342	0.655000	0.94253	GCT	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333954.2		-	ENST00000447353.1	Missense_Mutation	SNP	2 : 170502626 - 170502626 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1411	328
NLRX1	79671	broad.mit.edu	37	11	119045408	119045408	+	Missense_Mutation	SNP	G	G	A	rs141429802		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119045408G>A	ENST00000409109.1	+	6	1683	c.1096G>A	c.(1096-1098)Gct>Act	p.A366T	NLRX1_ENST00000409265.4_Missense_Mutation_p.A366T|NLRX1_ENST00000525863.1_Missense_Mutation_p.A366T|NLRX1_ENST00000409991.1_Missense_Mutation_p.A366T|NLRX1_ENST00000292199.2_Missense_Mutation_p.A366T	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	366	NACHT.|Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCAGATAGCCGCTGCCTGCTT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA,THR/ALA	6,4394	11.4+/-27.6	0,6,2194	73	59	64		1096,1096	3.2	0	11	dbSNP_134	64	1,8589	1.2+/-3.3	0,1,4294	yes	missense,missense	NLRX1	NM_024618.2,NM_170722.1	58,58	0,7,6488	AA,AG,GG	NA	0.0116,0.1364,0.0539	benign,benign	366/976,366/922	119045408	7,12983	2200	4295	6495	SO:0001583	missense			AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703	79671	79671		Nucleotide-binding domain and leucine rich repeat containing	29890	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat containing X1, NOD-like receptor X1, NLR family, X1	611947			NA	12766759	Standard	NM_170722	XM_005271669	NA	Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.1096G>A	11.37:g.119045408G>A	ENSP00000387334:p.Ala366Thr	NA	A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	37	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	G	9.019	0.984415	0.18889	0.001364	1.16E-4	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.70399	-0.38;-0.38;-0.48;-0.38;-0.48	6.07	3.22	0.36961	.	0.070594	0.64402	N	0.000017	T	0.48607	0.1509	N	0.16201	0.385	0.38241	D	0.941324	B;B	0.30793	0.295;0.108	B;B	0.23419	0.046;0.024	T	0.39522	-0.9610	10	0.20046	T	0.44	.	11.405	0.49892	0.1942:0.0:0.8058:0.0	.	366;366	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	T	366	ENSP00000386851:A366T;ENSP00000292199:A366T;ENSP00000386858:A366T;ENSP00000387334:A366T;ENSP00000433442:A366T	ENSP00000292199:A366T	A	+	1	0	NLRX1	118550618	0.997000	0.39634	0.007000	0.13788	0.320000	0.28249	3.053000	0.49901	0.459000	0.27016	0.655000	0.94253	GCT	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335403.1		+	ENST00000409109.1	Missense_Mutation	SNP	11 : 119045408 - 119045408 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	400	12
FGF23	8074	broad.mit.edu	37	12	4479908	4479908	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4479908C>T	ENST00000237837.1	-	3	502	c.357G>A	c.(355-357)acG>acA	p.T119T		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	119					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CGTTTTCCAGCGTCTGGTGTT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	100	101			NA	NA	12		NA											NA				4479908		2203	4300	6503	SO:0001819	synonymous_variant			AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972	8074	8074			3680	protein-coding gene	gene with protein product		605380			NA	11032749, 18310961	Standard		NM_020638	NA	Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.357G>A	12.37:g.4479908C>T		NA	Q4V758	37	CCDS8526.1																																																																																			FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398936.1		-	ENST00000237837.1	Silent	SNP	12 : 4479908 - 4479908 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	800	106
CCDC25	55246	broad.mit.edu	37	8	27605727	27605727	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27605727G>A	ENST00000356537.4	-	7	511	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	RP11-16P20.3_ENST00000521510.1_RNA|CCDC25_ENST00000522915.1_Missense_Mutation_p.R72W|CCDC25_ENST00000539095.1_Missense_Mutation_p.R72W	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	140										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		TCTGGGAACCGCTCGACTTTG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG	0,4406		0,0,2203	126	122	123		418	3.7	1	8		123	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC25	NM_018246.2	101	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	140/209	27605727	1,13005	2203	4300	6503	SO:0001583	missense			AK001715	CCDS6062.2	8p21.1	2006-09-20			ENSG00000147419	ENSG00000147419	55246	55246			25591	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_018246	NM_018246	NA	Approved	FLJ10853	uc003xgc.3	Q86WR0	OTTHUMG00000132173	ENST00000356537.4:c.418C>T	8.37:g.27605727G>A	ENSP00000348933:p.Arg140Trp	NA	Q96SI2|Q9NV98	37	CCDS6062.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375397	0.82682	0.0	1.16E-4	ENSG00000147419	ENST00000356537;ENST00000539095;ENST00000522915	.	.	.	5.61	3.72	0.42706	.	0.061313	0.64402	D	0.000002	T	0.79293	0.4421	M	0.86651	2.83	0.46981	D	0.999275	D	0.89917	1.0	D	0.65987	0.94	T	0.81684	-0.0821	9	0.87932	D	0	-6.8299	12.373	0.55265	0.0:0.0:0.6832:0.3168	.	140	Q86WR0	CCD25_HUMAN	W	140;72;72	.	ENSP00000348933:R140W	R	-	1	2	CCDC25	27661646	0.993000	0.37304	0.988000	0.46212	0.964000	0.63967	3.511000	0.53400	0.644000	0.30656	0.655000	0.94253	CGG	CCDC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255224.1		-	ENST00000356537.4	Missense_Mutation	SNP	8 : 27605727 - 27605727 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	517	22
VAC14	55697	broad.mit.edu	37	16	70778369	70778369	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70778369G>T	ENST00000261776.5	-	13	1745	c.1485C>A	c.(1483-1485)ctC>ctA	p.L495L		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	495					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TGGGCACCTGGAGCTCTGAGT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	42	41			NA	NA	16		NA											NA				70778369		2198	4300	6498	SO:0001819	synonymous_variant			AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043	55697	55697			25507	protein-coding gene	gene with protein product		604632	Tax1 (human T-cell leukemia virus type I) binding protein 2	TAX1BP2	NA	15542851, 12719380	Standard	NM_018052	NM_018052	NA	Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.1485C>A	16.37:g.70778369G>T		NA	B3KPJ5|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	37	CCDS10896.1																																																																																			VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268973.3		-	ENST00000261776.5	Silent	SNP	16 : 70778369 - 70778369 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	446	79
WDR60	55112	broad.mit.edu	37	7	158677270	158677270	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158677270A>C	ENST00000407559.3	+	6	1053	c.895A>C	c.(895-897)Aat>Cat	p.N299H		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	299										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TGAACACAGAAATCGAGGTGC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	94	93			NA	NA	7		NA											NA				158677270		1930	4147	6077	SO:0001583	missense				CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870	55112	55112		WD repeat domain containing	21862	protein-coding gene	gene with protein product		615462			NA	23910462	Standard	NM_018051	NM_018051	NA	Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.895A>C	7.37:g.158677270A>C	ENSP00000384290:p.Asn299His	NA	Q9NW58	37	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	A	2.941	-0.218884	0.06101	.	.	ENSG00000126870	ENST00000407559	T	0.22945	1.93	4.31	1.86	0.25419	.	0.412908	0.23791	N	0.044526	T	0.11067	0.0270	N	0.17082	0.46	0.19300	N	0.99998	B	0.06786	0.001	B	0.04013	0.001	T	0.33189	-0.9878	10	0.10377	T	0.69	-9.2587	4.4363	0.11552	0.6918:0.2006:0.1076:0.0	.	299	Q8WVS4	WDR60_HUMAN	H	299	ENSP00000384290:N299H	ENSP00000384290:N299H	N	+	1	0	WDR60	158370031	0.121000	0.22262	0.392000	0.26245	0.108000	0.19459	0.617000	0.24359	0.155000	0.19261	0.496000	0.49642	AAT	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322668.1		+	ENST00000407559.3	Missense_Mutation	SNP	7 : 158677270 - 158677270 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	164	12
KIF17	57576	broad.mit.edu	37	1	21014359	21014359	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21014359G>A	ENST00000247986.2	-	8	1770	c.1460C>T	c.(1459-1461)cCg>cTg	p.P487L	KIF17_ENST00000375044.1_Missense_Mutation_p.P387L|KIF17_ENST00000490034.1_Intron|KIF17_ENST00000400463.3_Missense_Mutation_p.P487L			Q9P2E2	KIF17_HUMAN	kinesin family member 17	487					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		AAAAGCAGGCGGGTACTCAGC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	72	74			NA	NA	1		NA											NA				21014359		2203	4298	6501	SO:0001583	missense			AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245	57576	57576		Kinesins	19167	protein-coding gene	gene with protein product	kinesin-like protein KIF17, KIF3-related motor protein, KIF17 variant protein	605037			NA	10846156	Standard	NM_020816	XR_241202	NA	Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.1460C>T	1.37:g.21014359G>A	ENSP00000247986:p.Pro487Leu	NA	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	37	CCDS213.1	.	.	.	.	.	.	.	.	.	.	G	6.424	0.446381	0.12223	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.69806	-0.43;-0.32;-0.33	4.93	-0.286	0.12862	.	1.577840	0.04772	U	0.428171	T	0.42040	0.1185	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.20438	-1.0275	10	0.21540	T	0.41	.	4.1203	0.10103	0.3776:0.1698:0.4526:0.0	.	487;487	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	L	387;487;487	ENSP00000364184:P387L;ENSP00000383311:P487L;ENSP00000247986:P487L	ENSP00000247986:P487L	P	-	2	0	KIF17	20886946	0.000000	0.05858	0.000000	0.03702	0.153000	0.21895	0.213000	0.17521	0.290000	0.22444	0.491000	0.48974	CCG	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276995.1		-	ENST00000247986.2	Missense_Mutation	SNP	1 : 21014359 - 21014359 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	406	14
MYO1G	64005	broad.mit.edu	37	7	45009400	45009400	+	Silent	SNP	G	G	A	rs141395808		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45009400G>A	ENST00000258787.7	-	11	1543	c.1407C>T	c.(1405-1407)gaC>gaT	p.D469D		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	469	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TGCAGGCCTCGTCCAGCACGG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4405	2.1+/-5.4	0,1,2202	111	113	112		1407	-5.4	0.9	7	dbSNP_134	112	0,8598		0,0,4299	no	coding-synonymous	MYO1G	NM_033054.2		0,1,6501	AA,AG,GG	NA	0.0,0.0227,0.0077		469/1019	45009400	1,13003	2203	4299	6502	SO:0001819	synonymous_variant			AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286	64005	64005		Myosins / Myosin superfamily : Class I	13880	protein-coding gene	gene with protein product	minor histocompatibility antigen HA-2	600642			NA		Standard		NM_033054	NA	Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.1407C>T	7.37:g.45009400G>A		NA	Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	37	CCDS34629.1																																																																																			MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341832.2		-	ENST00000258787.7	Silent	SNP	7 : 45009400 - 45009400 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1058	188
ZNF319	57567	broad.mit.edu	37	16	58031620	58031620	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58031620G>T	ENST00000299237.2	-	2	1172	c.550C>A	c.(550-552)Ccc>Acc	p.P184T		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GGTGCTGCGGGAAGCGACGGG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	108	101			NA	NA	16		NA											NA				58031620		2197	4298	6495	SO:0001583	missense			AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188	NA	57567		Zinc fingers, C2H2-type	13644	protein-coding gene	gene with protein product					NA	10718198, 11161788	Standard		XM_005256069	NA	Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.550C>A	16.37:g.58031620G>T	ENSP00000299237:p.Pro184Thr	NA	Q52LH8	37	CCDS32462.1	.	.	.	.	.	.	.	.	.	.	G	0.746	-0.774707	0.02951	.	.	ENSG00000166188	ENST00000299237	T	0.02863	4.13	3.86	2.87	0.33458	.	0.103862	0.42172	U	0.000741	T	0.01905	0.0060	L	0.29908	0.895	0.34535	D	0.709588	P	0.39480	0.675	B	0.27887	0.084	T	0.55891	-0.8069	10	0.15499	T	0.54	-12.5787	10.88	0.46933	0.0:0.0:0.8105:0.1895	.	184	Q9P2F9	ZN319_HUMAN	T	184	ENSP00000299237:P184T	ENSP00000299237:P184T	P	-	1	0	ZNF319	56589121	0.969000	0.33509	0.337000	0.25536	0.015000	0.08874	5.094000	0.64523	1.155000	0.42497	0.563000	0.77884	CCC	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000430317.1		-	ENST00000299237.2	Missense_Mutation	SNP	16 : 58031620 - 58031620 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1638	338
SLC50A1	55974	broad.mit.edu	37	1	155110570	155110570	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155110570T>G	ENST00000368404.4	+	5	622	c.560T>G	c.(559-561)aTc>aGc	p.I187S	SLC50A1_ENST00000484157.1_Missense_Mutation_p.I122S|SLC50A1_ENST00000368401.5_Missense_Mutation_p.I132S|SLC50A1_ENST00000303343.8_Missense_Mutation_p.I133S|SLC50A1_ENST00000368405.3_3'UTR	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN	solute carrier family 50 (sugar efflux transporter), member 1	187	Mediates interaction with TRPV2 (By similarity).|MtN3/slv 2.				positive regulation of gene expression, epigenetic	Golgi membrane|integral to membrane|plasma membrane	glucoside transmembrane transporter activity			endometrium(1)|lung(1)|ovary(1)|skin(1)	4						GATCCCTATATCATGGTAAGC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	138	143			NA	NA	1		NA											NA				155110570		2203	4300	6503	SO:0001583	missense			AF126023, AF126024	CCDS1093.1, CCDS44238.1, CCDS44239.1, CCDS72929.1, CCDS72930.1	1q22	2013-07-17	2013-07-17	2010-11-30	ENSG00000169241	ENSG00000169241	55974	55974		Solute carriers	30657	protein-coding gene	gene with protein product	stromal cell protein	613683	recombination activating gene 1 activating protein 1	RAG1AP1	NA	21107422	Standard	NM_018845	NM_018845	NA	Approved	SCP, RP11-540D14.5, slv, RZPDo834D038D, HsSWEET1, SWEET1	uc001fhj.4	Q9BRV3	OTTHUMG00000035333	ENST00000368404.4:c.560T>G	1.37:g.155110570T>G	ENSP00000357389:p.Ile187Ser	NA	Q5SR64|Q6IAK6|Q96DC5|Q9UHQ2|Q9UHQ3	37	CCDS1093.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.101238	0.76983	.	.	ENSG00000169241	ENST00000484157;ENST00000303343;ENST00000368404;ENST00000368401	.	.	.	4.97	3.84	0.44239	.	0.048105	0.85682	D	0.000000	T	0.81607	0.4858	H	0.95539	3.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.989;0.996;0.997	D	0.84809	0.0789	9	0.87932	D	0	-34.257	9.1452	0.36928	0.0:0.0874:0.0:0.9126	.	133;132;187	Q9BRV3-3;Q9BRV3-2;Q9BRV3	.;.;SWET1_HUMAN	S	122;133;187;132	.	ENSP00000306146:I133S	I	+	2	0	SLC50A1	153377194	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	6.204000	0.72143	1.020000	0.39573	0.533000	0.62120	ATC	SLC50A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085505.1		+	ENST00000368404.4	Missense_Mutation	SNP	1 : 155110570 - 155110570 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	485	24
CPS1	1373	broad.mit.edu	37	2	211521337	211521337	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211521337G>A	ENST00000233072.5	+	30	3843	c.3647G>A	c.(3646-3648)aGc>aAc	p.S1216N	CPS1_ENST00000430249.2_Missense_Mutation_p.S1222N|CPS1_ENST00000451903.2_Missense_Mutation_p.S765N	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1216	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CAAACCATCAGCCAAGGGGCC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	67	67			NA	NA	2		NA											NA				211521337		2203	4300	6503	SO:0001583	missense			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	1373	1373	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	carbamoyl-phosphate synthetase 1, mitochondrial		NA		Standard		NM_001122633	NA	Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3647G>A	2.37:g.211521337G>A	ENSP00000233072:p.Ser1216Asn	NA	B7Z818|O43774|Q7Z5I5	37	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.380057	0.24944	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97161	-4.27;-4.27;-4.27	6.08	6.08	0.98989	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.000000	0.85682	D	0.000000	D	0.95850	0.8649	M	0.63843	1.955	0.58432	D	0.999998	P;P	0.37141	0.584;0.584	B;B	0.39971	0.315;0.315	D	0.93651	0.6973	10	0.02654	T	1	-10.9857	20.6634	0.99662	0.0:0.0:1.0:0.0	.	1226;1216	Q59HF8;P31327	.;CPSM_HUMAN	N	1222;1224;1216;765	ENSP00000402608:S1222N;ENSP00000233072:S1216N;ENSP00000406136:S765N	ENSP00000233072:S1216N	S	+	2	0	CPS1	211229582	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.281000	0.95811	2.894000	0.99253	0.655000	0.94253	AGC	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256569.5		+	ENST00000233072.5	Missense_Mutation	SNP	2 : 211521337 - 211521337 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	369	95
ATF6B	1388	broad.mit.edu	37	6	32095235	32095235	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32095235G>A	ENST00000375201.4	-	3	270	c.225C>T	c.(223-225)ctC>ctT	p.L75L	ATF6B_ENST00000468502.1_5'UTR|ATF6B_ENST00000375203.3_Silent_p.L78L			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	78	Transcription activation.				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						AGATCGGCAGGAGTTCCCATG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	34	34			NA	NA	6		NA											NA				32095235		2203	4300	6503	SO:0001819	synonymous_variant				CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676	1388	1388		basic leucine zipper proteins	2349	protein-coding gene	gene with protein product		600984	cAMP responsive element binding protein-like 1	CREBL1	NA	11256944, 14973138	Standard		NM_004381	NA	Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375201.4:c.225C>T	6.37:g.32095235G>A		NA	B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	37	CCDS47408.1																																																																																			ATF6B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076637.2		-	ENST00000375201.4	Silent	SNP	6 : 32095235 - 32095235 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	204	13
ABCA2	20	broad.mit.edu	37	9	139912431	139912431	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139912431C>T	ENST00000341511.6	-	15	2139	c.2090G>A	c.(2089-2091)cGc>cAc	p.R697H	ABCA2_ENST00000265662.5_Missense_Mutation_p.R697H|ABCA2_ENST00000371605.3_Missense_Mutation_p.R696H	NM_001606.4|NM_212533.2	NP_001597|NP_997698.1	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	696					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TCACTCATCGCGTGTGTAGCA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	40	39			NA	NA	9		NA											NA				139912431		1997	4174	6171	SO:0001583	missense			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331	20	20		ATP binding cassette transporters / subfamily A	32	protein-coding gene	gene with protein product		600047		ABC2	NA	8088782	Standard	NM_001606	NM_212533	NA	Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000341511.6:c.2090G>A	9.37:g.139912431C>T	ENSP00000344155:p.Arg697His	NA	A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	37	CCDS43909.1	.	.	.	.	.	.	.	.	.	.	c	20.8	4.049685	0.75846	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.94497	-3.44;-3.44;-3.44	3.35	3.35	0.38373	.	0.146870	0.42294	U	0.000739	D	0.94013	0.8082	N	0.17800	0.525	0.53005	D	0.999966	D;D	0.89917	1.0;0.999	D;D	0.74348	0.983;0.944	D	0.94289	0.7527	10	0.48119	T	0.1	.	15.2097	0.73209	0.0:1.0:0.0:0.0	.	696;727	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	H	697;696;727;697	ENSP00000265662:R697H;ENSP00000360666:R696H;ENSP00000344155:R697H	ENSP00000265662:R697H	R	-	2	0	ABCA2	139032252	0.488000	0.25996	0.778000	0.31720	0.505000	0.33919	4.466000	0.60148	1.880000	0.54463	0.306000	0.20318	CGC	ABCA2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055199.2		-	ENST00000341511.6	Missense_Mutation	SNP	9 : 139912431 - 139912431 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	247	43
ATP1A1	476	broad.mit.edu	37	1	116943830	116943830	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:116943830G>A	ENST00000295598.5	+	20	3049	c.2797G>A	c.(2797-2799)Gac>Aac	p.D933N	ATP1A1_ENST00000369496.4_Missense_Mutation_p.D902N|ATP1A1_ENST00000537345.1_Missense_Mutation_p.D933N	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	933					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	GCAGTGGGCCGACTTGGTCAT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	82	85			NA	NA	1		NA											NA				116943830		2203	4300	6503	SO:0001583	missense			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	476	476	3.6.3.9	ATPases / P-type	799	protein-coding gene	gene with protein product	sodium/potassium-transporting ATPase subunit alpha-1, sodium pump subunit alpha-1, sodium-potassium ATPase catalytic subunit alpha-1	182310			NA		Standard	NM_001160233	NM_000701	NA	Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.2797G>A	1.37:g.116943830G>A	ENSP00000295598:p.Asp933Asn	NA	B2RBR6|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	37	CCDS887.1	.	.	.	.	.	.	.	.	.	.	G	36	5.709734	0.96821	.	.	ENSG00000163399	ENST00000295598;ENST00000445896;ENST00000537345;ENST00000369496;ENST00000440951	D;D;D;D	0.94417	-3.42;-3.42;-3.42;-3.42	5.1	5.1	0.69264	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95730	0.8611	L	0.59967	1.855	0.80722	D	1	D;D	0.67145	0.996;0.996	P;P	0.62649	0.846;0.905	D	0.95486	0.8565	10	0.56958	D	0.05	.	18.3091	0.90193	0.0:0.0:1.0:0.0	.	933;933	F5H3A1;P05023	.;AT1A1_HUMAN	N	933;102;933;902;100	ENSP00000295598:D933N;ENSP00000445306:D933N;ENSP00000358508:D902N;ENSP00000396236:D100N	ENSP00000295598:D933N	D	+	1	0	ATP1A1	116745353	1.000000	0.71417	0.972000	0.41901	0.995000	0.86356	9.657000	0.98554	2.640000	0.89533	0.591000	0.81541	GAC	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033481.5		+	ENST00000295598.5	Missense_Mutation	SNP	1 : 116943830 - 116943830 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	230	17
SHMT1	6470	broad.mit.edu	37	17	18232655	18232655	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18232655C>A	ENST00000316694.3	-	11	1353	c.1219G>T	c.(1219-1221)Gca>Tca	p.A407S	SHMT1_ENST00000539052.1_Missense_Mutation_p.A269S|SHMT1_ENST00000352886.6_Missense_Mutation_p.A327S|SHMT1_ENST00000354098.3_Missense_Mutation_p.A368S	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	407					carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GACGTCAGTGCTGGGGTCCCC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	49	48			NA	NA	17		NA											NA				18232655		2203	4300	6503	SO:0001583	missense				CCDS11196.1, CCDS11197.1, CCDS62112.1	17p11.2	2010-04-23			ENSG00000176974	ENSG00000176974	6470	6470	2.1.2.1		10850	protein-coding gene	gene with protein product	cytoplasmic serine hydroxymethyltransferase, 14 kDa protein	182144			NA	8505317	Standard	NM_004169	NM_004169	NA	Approved	CSHMT, SHMT, MGC15229, MGC24556	uc002gta.3	P34896	OTTHUMG00000059094	ENST00000316694.3:c.1219G>T	17.37:g.18232655C>A	ENSP00000318868:p.Ala407Ser	NA	D3DXD0|Q96HY0|Q9UMD1|Q9UMD2	37	CCDS11196.1	.	.	.	.	.	.	.	.	.	.	C	35	5.519860	0.96416	.	.	ENSG00000176974	ENST00000316694;ENST00000395684;ENST00000352886;ENST00000539052;ENST00000354098	T;T;T;T	0.55588	0.51;1.22;0.51;1.22	5.52	5.52	0.82312	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.79941	0.4533	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	0.988;1.0	D	0.83833	0.0253	10	0.87932	D	0	-14.926	19.7926	0.96466	0.0:1.0:0.0:0.0	.	368;407	P34896-2;P34896	.;GLYC_HUMAN	S	407;182;327;269;368	ENSP00000318868:A407S;ENSP00000345881:A327S;ENSP00000440089:A269S;ENSP00000318805:A368S	ENSP00000318868:A407S	A	-	1	0	SHMT1	18173380	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.310000	0.78947	2.761000	0.94854	0.655000	0.94253	GCA	SHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130831.2		-	ENST00000316694.3	Missense_Mutation	SNP	17 : 18232655 - 18232655 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	250	61
CD109	135228	broad.mit.edu	37	6	74407148	74407148	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74407148G>T	ENST00000287097.5	+	2	212	c.100G>T	c.(100-102)Ggg>Tgg	p.G34W	CD109_ENST00000437994.2_Missense_Mutation_p.G34W|CD109_ENST00000422508.2_Missense_Mutation_p.G34W			Q6YHK3	CD109_HUMAN	CD109 molecule	34						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GACAGCCCCAGGGATCATCAG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	106	106			NA	NA	6		NA											NA				74407148		2203	4300	6503	SO:0001583	missense			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535	135228	135228		CD molecules	21685	protein-coding gene	gene with protein product		608859	CD109 antigen (Gov platelet alloantigens)		NA	11861284, 11861285	Standard	NM_133493	XM_005248659	NA	Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.100G>T	6.37:g.74407148G>T	ENSP00000287097:p.Gly34Trp	NA	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	37	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099419	0.37048	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.23552	1.9;2.05;1.9	5.31	3.39	0.38822	.	0.166019	0.38492	N	0.001678	T	0.13927	0.0337	N	0.14661	0.345	0.23848	N	0.996675	D;B;B;B	0.59357	0.985;0.133;0.023;0.012	P;B;B;B	0.61592	0.891;0.025;0.017;0.01	T	0.04413	-1.0953	10	0.45353	T	0.12	.	8.848	0.35181	0.1943:0.0:0.8057:0.0	.	34;34;34;34	Q6YHK3-2;Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;.;CD109_HUMAN	W	34	ENSP00000388062:G34W;ENSP00000404475:G34W;ENSP00000287097:G34W	ENSP00000287097:G34W	G	+	1	0	CD109	74463869	0.998000	0.40836	0.987000	0.45799	0.829000	0.46940	1.048000	0.30379	1.492000	0.48499	0.655000	0.94253	GGG	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041230.3		+	ENST00000287097.5	Missense_Mutation	SNP	6 : 74407148 - 74407148 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	519	81
STX12	23673	broad.mit.edu	37	1	28120075	28120075	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28120075G>A	ENST00000373943.4	+	3	345	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	STX12_ENST00000468761.1_3'UTR	NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	74					cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport	Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle	SNAP receptor activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		AAATCAGCTCGCCAAGGAAAC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(5;5 342 2097 9488 34083)							NA				0													141	127	132			NA	NA	1		NA											NA				28120075		2203	4300	6503	SO:0001583	missense			BC046999	CCDS310.1	1p35.3	2008-05-14			ENSG00000117758	ENSG00000117758	23673	23673			11430	protein-coding gene	gene with protein product		606892			NA	9507000	Standard	NM_177424	NM_177424	NA	Approved	STX13, STX14	uc001bou.4	Q86Y82	OTTHUMG00000003730	ENST00000373943.4:c.220G>A	1.37:g.28120075G>A	ENSP00000363054:p.Ala74Thr	NA	B1AJQ7|O95564	37	CCDS310.1	.	.	.	.	.	.	.	.	.	.	G	34	5.398737	0.96030	.	.	ENSG00000117758	ENST00000373943;ENST00000440806	T	0.32272	1.46	5.49	5.49	0.81192	t-SNARE (1);Syntaxin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.61274	0.2334	M	0.86028	2.79	0.44012	D	0.996725	D	0.63046	0.992	D	0.66979	0.948	T	0.65557	-0.6139	10	0.56958	D	0.05	-3.8443	19.3786	0.94521	0.0:0.0:1.0:0.0	.	74	Q86Y82	STX12_HUMAN	T	74	ENSP00000363054:A74T	ENSP00000363054:A74T	A	+	1	0	STX12	27992662	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	9.327000	0.96396	2.584000	0.87258	0.555000	0.69702	GCC	STX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000010519.1		+	ENST00000373943.4	Missense_Mutation	SNP	1 : 28120075 - 28120075 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	228	9
RAD51C	5889	broad.mit.edu	37	17	56772420	56772420	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56772420G>A	ENST00000337432.4	+	2	345	c.274G>A	c.(274-276)Gag>Aag	p.E92K	RAD51C_ENST00000487921.1_3'UTR|RAD51C_ENST00000421782.2_Missense_Mutation_p.E92K|RAD51C_ENST00000583539.1_Missense_Mutation_p.E92K	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	92					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGAACTTCTTGAGCAGGAGCA	0.418		NA						Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	94	97			NA	NA	17		NA											NA				56772420		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	BRCAX	AF029670	CCDS11611.1, CCDS45745.1	17q25.1	2014-09-17	2013-07-02		ENSG00000108384	ENSG00000108384	5889	5889		Fanconi anemia, complementation groups	9820	protein-coding gene	gene with protein product		602774	RAD51 (S. cerevisiae) homolog C, RAD51 homolog C (S. cerevisiae)		NA	9469824, 22167183	Standard	NM_058216	NM_058216	NA	Approved	RAD51L2, FANCO	uc002iwu.3	O43502	OTTHUMG00000141292	ENST00000337432.4:c.274G>A	17.37:g.56772420G>A	ENSP00000336701:p.Glu92Lys	NA	Q3B783	37	CCDS11611.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306102	0.60305	.	.	ENSG00000108384	ENST00000337432;ENST00000421782;ENST00000425173	T;T;T	0.38887	1.11;1.4;1.11	5.65	5.65	0.86999	DNA recombination and repair protein Rad51, C-terminal (1);	0.194459	0.56097	D	0.000035	T	0.39332	0.1074	L	0.46947	1.48	0.40003	D	0.975195	B;B;B	0.24186	0.099;0.026;0.003	B;B;B	0.25987	0.036;0.065;0.015	T	0.20672	-1.0268	10	0.15499	T	0.54	-12.4417	18.3036	0.90172	0.0:0.0:1.0:0.0	.	83;92;92	B4E0G0;O43502;O43503	.;RA51C_HUMAN;.	K	92;92;24	ENSP00000336701:E92K;ENSP00000391450:E92K;ENSP00000407282:E24K	ENSP00000336701:E92K	E	+	1	0	RAD51C	54127419	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.350000	0.73017	2.660000	0.90430	0.655000	0.94253	GAG	RAD51C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280540.2		+	ENST00000337432.4	Missense_Mutation	SNP	17 : 56772420 - 56772420 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	370	79
ANKS3	124401	broad.mit.edu	37	16	4774778	4774778	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4774778C>A	ENST00000304283.4	-	6	840	c.546G>T	c.(544-546)gaG>gaT	p.E182D	ANKS3_ENST00000450067.2_Intron|ANKS3_ENST00000585773.1_Missense_Mutation_p.E109D|ANKS3_ENST00000592711.1_Missense_Mutation_p.E75D|ANKS3_ENST00000446014.2_Missense_Mutation_p.E53D	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	182										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GCACGATTATCTCATGGCCAG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	71	74			NA	NA	16		NA											NA				4774778		2197	4300	6497	SO:0001583	missense			AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096	124401	124401		Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	29422	protein-coding gene	gene with protein product					NA	11853319	Standard	NM_133450	NM_133450	NA	Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.546G>T	16.37:g.4774778C>A	ENSP00000304586:p.Glu182Asp	NA	B4DWU4|D3DUE2|Q8TF25	37	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787099	0.70337	.	.	ENSG00000168096	ENST00000304283;ENST00000446014	T;T	0.65549	-0.16;-0.1	5.51	-0.996	0.10218	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.68026	0.2956	L	0.48642	1.525	0.58432	D	0.999998	D	0.76494	0.999	D	0.80764	0.994	T	0.64922	-0.6293	10	0.40728	T	0.16	-3.7901	11.9999	0.53224	0.0:0.6751:0.0:0.3249	.	182	Q6ZW76	ANKS3_HUMAN	D	182;53	ENSP00000304586:E182D;ENSP00000406796:E53D	ENSP00000304586:E182D	E	-	3	2	ANKS3	4714779	1.000000	0.71417	0.763000	0.31416	0.888000	0.51559	0.937000	0.28951	-0.032000	0.13758	-0.345000	0.07892	GAG	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251642.3		-	ENST00000304283.4	Missense_Mutation	SNP	16 : 4774778 - 4774778 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	218	11
EBF1	1879	broad.mit.edu	37	5	158223401	158223401	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:158223401G>A	ENST00000313708.6	-	9	1143	c.861C>T	c.(859-861)ttC>ttT	p.F287F	EBF1_ENST00000517373.1_Silent_p.F279F|EBF1_ENST00000380654.4_Silent_p.F256F|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	287	IPT/TIG.				multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCCATCAAAGAAATTGTCCC	0.453		NA	T	HMGA2	lipoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		5	5q34	1879	early B-cell factor 1		M	0													155	126	136			NA	NA	5		NA											NA				158223401		2203	4300	6503	SO:0001819	synonymous_variant			AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330	1879	1879			3126	protein-coding gene	gene with protein product		164343	early B-cell factor	EBF	NA	8012110	Standard	NM_024007	NM_024007	NA	Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.861C>T	5.37:g.158223401G>A		NA	Q8IW11	37	CCDS4343.1																																																																																			EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252649.1		-	ENST00000313708.6	Silent	SNP	5 : 158223401 - 158223401 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	451	94
KIAA1432	0	broad.mit.edu	37	9	5774231	5774231	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5774231C>A	ENST00000414202.2	+	26	4448	c.4257C>A	c.(4255-4257)gaC>gaA	p.D1419E	KIAA1432_ENST00000449720.2_Missense_Mutation_p.D1303E|KIAA1432_ENST00000418622.3_Missense_Mutation_p.D1340E	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN		1419						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GGACTTACGACTGTTCTGTGT	0.488		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	9		NA											NA				5774231		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000414202.2:c.4257C>A	9.37:g.5774231C>A	ENSP00000416696:p.Asp1419Glu	NA	Q4VXJ8|Q4VXJ9|Q76MT5|Q8N6E0|Q8TEH4|Q9H0A5|Q9H9S1	37	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.36|16.36	3.100027|3.100027	0.56183|0.56183	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000414202;ENST00000418622;ENST00000449720|ENST00000545641	.|.	.|.	.|.	5.7|5.7	4.8|4.8	0.61643|0.61643	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.50650|0.50650	0.1628|0.1628	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D;D|.	0.58970|.	0.984;0.984|.	D;D|.	0.70016|.	0.967;0.967|.	T|T	0.45323|0.45323	-0.9269|-0.9269	9|5	0.72032|.	D|.	0.01|.	-18.8188|-18.8188	10.5742|10.5742	0.45217|0.45217	0.0:0.8536:0.0:0.1464|0.0:0.8536:0.0:0.1464	.|.	1303;1419|.	B7ZM67;Q4ADV7|.	.;RIC1_HUMAN|.	E|M	1419;1340;1303|1311	.|.	ENSP00000416696:D1419E|.	D|L	+|+	3|1	2|2	KIAA1432|KIAA1432	5764231|5764231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	2.787000|2.787000	0.47798|0.47798	1.413000|1.413000	0.46997|0.46997	0.462000|0.462000	0.41574|0.41574	GAC|CTG	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051636.3		+	ENST00000414202.2	Missense_Mutation	SNP	9 : 5774231 - 5774231 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	287	65
PCDH10	57575	broad.mit.edu	37	4	134072528	134072528	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134072528T>G	ENST00000264360.5	+	1	2059	c.1233T>G	c.(1231-1233)aaT>aaG	p.N411K		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	NA	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCTTTAAGAATTACTACACCA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	161	158			NA	NA	4		NA											NA				134072528		2203	4300	6503	SO:0001583	missense			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650	57575	57575		Cadherins / Protocadherins : Non-clustered	13404	protein-coding gene	gene with protein product		608286			NA	10835267	Standard	NM_032961	NM_020815	NA	Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1233T>G	4.37:g.134072528T>G	ENSP00000264360:p.Asn411Lys	NA	Q4W5F6	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	T	15.35	2.806162	0.50421	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.01705	4.68	4.68	0.389	0.16269	Cadherin (4);Cadherin-like (1);	0.000000	0.48767	D	0.000174	T	0.07593	0.0191	M	0.78223	2.4	0.52501	D	0.999956	D;D	0.76494	0.999;0.975	D;P	0.87578	0.998;0.838	T	0.03619	-1.1019	10	0.51188	T	0.08	.	8.2866	0.31932	0.0:0.6128:0.0:0.3872	.	411;411	Q9P2E7;Q96SF0	PCD10_HUMAN;.	K	411	ENSP00000264360:N411K	ENSP00000264360:N411K	N	+	3	2	PCDH10	134291978	0.995000	0.38212	1.000000	0.80357	0.968000	0.65278	0.404000	0.20999	0.110000	0.17919	0.459000	0.35465	AAT	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364457.2		+	ENST00000264360.5	Missense_Mutation	SNP	4 : 134072528 - 134072528 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1610	281
ALDH18A1	5832	broad.mit.edu	37	10	97397085	97397085	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97397085G>A	ENST00000371224.2	-	4	549	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	ALDH18A1_ENST00000371221.3_Missense_Mutation_p.R138W|ALDH18A1_ENST00000483788.1_5'UTR	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	138	Glutamate 5-kinase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	AGGGCCTGCCGCACGCTCTGA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	102	106			NA	NA	10		NA											NA				97397085		2203	4300	6503	SO:0001583	missense			X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573	5832	5832		Aldehyde dehydrogenases	9722	protein-coding gene	gene with protein product		138250	pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)	GSAS, PYCS	NA	8921385	Standard	NM_002860	XM_006717933	NA	Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.412C>T	10.37:g.97397085G>A	ENSP00000360268:p.Arg138Trp	NA	B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	37	CCDS7443.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052093	0.75960	.	.	ENSG00000059573	ENST00000371224;ENST00000371221	T;T	0.79454	-1.27;-1.27	5.6	1.25	0.21368	Aspartate/glutamate/uridylate kinase (3);	0.000000	0.85682	D	0.000000	D	0.88043	0.6331	M	0.86805	2.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88794	0.3280	10	0.87932	D	0	-18.3088	13.2574	0.60087	0.0:0.0:0.4611:0.5389	.	138;138	P54886;P54886-2	P5CS_HUMAN;.	W	138	ENSP00000360268:R138W;ENSP00000360265:R138W	ENSP00000360265:R138W	R	-	1	2	ALDH18A1	97387075	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	1.162000	0.31786	0.261000	0.21753	0.555000	0.69702	CGG	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049552.1		-	ENST00000371224.2	Missense_Mutation	SNP	10 : 97397085 - 97397085 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	469	81
OR1L6	392390	broad.mit.edu	37	9	125512484	125512484	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125512484G>A	ENST00000304720.2	+	1	358	c.358G>A	c.(358-360)Gcc>Acc	p.A120T	OR1L6_ENST00000373684.1_Missense_Mutation_p.A156T	NM_001004453.2	NP_001004453.2	Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						GGCCTCTATGGCCATCGACCG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	93	98			NA	NA	9		NA											NA				125512484		2203	4298	6501	SO:0001583	missense				CCDS35130.1, CCDS35130.2	9q33.2	2013-09-20			ENSG00000171459	ENSG00000171459	392390	392390		GPCR / Class A : Olfactory receptors	8218	protein-coding gene	gene with protein product				OR1L7	NA		Standard		NM_001004453	NA	Approved		uc022bna.1	Q8NGR2	OTTHUMG00000020621	ENST00000304720.2:c.358G>A	9.37:g.125512484G>A	ENSP00000304235:p.Ala120Thr	NA	Q6IFM8|Q96R80	37	CCDS35130.2	.	.	.	.	.	.	.	.	.	.	.	24.0	4.485945	0.84854	.	.	ENSG00000171459	ENST00000373684;ENST00000304720	T;T	0.13307	2.6;2.6	4.62	4.62	0.57501	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000043	T	0.45657	0.1353	M	0.90425	3.115	0.48087	D	0.999587	D	0.76494	0.999	D	0.81914	0.995	T	0.56872	-0.7907	10	0.87932	D	0	-26.7787	16.7211	0.85410	0.0:0.0:1.0:0.0	.	156	Q8NGR2	OR1L6_HUMAN	T	156;120	ENSP00000362788:A156T;ENSP00000304235:A120T	ENSP00000304235:A120T	A	+	1	0	OR1L6	124552305	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.208000	0.65203	2.557000	0.86248	0.655000	0.94253	GCC	OR1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053952.3		+	ENST00000304720.2	Missense_Mutation	SNP	9 : 125512484 - 125512484 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	742	102
PRICKLE2	166336	broad.mit.edu	37	3	64085080	64085080	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:64085080G>A	ENST00000295902.6	-	8	2767	c.2182C>T	c.(2182-2184)Cgc>Tgc	p.R728C	PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.R784C|RP11-129B22.1_ENST00000482609.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	728	Arg-rich.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CTCCGCTGGCGCATAAATTGG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	50	48			NA	NA	3		NA											NA				64085080		2203	4300	6503	SO:0001583	missense			AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637	166336	166336			20340	protein-coding gene	gene with protein product		608501	prickle-like 2 (Drosophila)		NA	12525887	Standard	NM_198859	NM_198859	NA	Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2182C>T	3.37:g.64085080G>A	ENSP00000295902:p.Arg728Cys	NA	Q0VF44	37	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404454	0.42613	.	.	ENSG00000163637	ENST00000295902	D	0.84873	-1.91	5.33	5.33	0.75918	.	0.236745	0.37669	N	0.001984	T	0.76572	0.4006	N	0.22421	0.69	0.45930	D	0.998765	P	0.41978	0.767	B	0.34452	0.183	T	0.78868	-0.2034	10	0.45353	T	0.12	-43.1434	19.3767	0.94512	0.0:0.0:1.0:0.0	.	728	Q7Z3G6	PRIC2_HUMAN	C	728	ENSP00000295902:R728C	ENSP00000295902:R728C	R	-	1	0	PRICKLE2	64060120	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.328000	0.52052	2.651000	0.90000	0.591000	0.81541	CGC	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352219.1		-	ENST00000295902.6	Missense_Mutation	SNP	3 : 64085080 - 64085080 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	476	58
MMRN2	79812	broad.mit.edu	37	10	88703517	88703517	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88703517T>G	ENST00000372027.5	-	6	1345	c.1024A>C	c.(1024-1026)Aag>Cag	p.K342Q		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	NA						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TCCTGAGCCTTGTGCAGCCTC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	59	58			NA	NA	10		NA											NA				88703517		2203	4300	6503	SO:0001583	missense			AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269	79812	79812		EMI domain containing	19888	protein-coding gene	gene with protein product		608925	elastin microfibril interfacer 3	EMILIN3	NA	11559704	Standard	NM_024756	NM_024756	NA	Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.1024A>C	10.37:g.88703517T>G	ENSP00000361097:p.Lys342Gln	NA	Q504V7|Q6P2N2	37	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	T	15.82	2.947118	0.53186	.	.	ENSG00000173269	ENST00000372027	T	0.70164	-0.46	4.96	4.96	0.65561	.	0.221156	0.34603	N	0.003839	T	0.76521	0.3999	M	0.72894	2.215	0.09310	N	1	D;D	0.76494	0.995;0.999	D;D	0.66084	0.941;0.941	T	0.67397	-0.5681	10	0.28530	T	0.3	-38.1567	10.4972	0.44785	0.0:0.0:0.1627:0.8372	.	281;342	B4E3H8;Q9H8L6	.;MMRN2_HUMAN	Q	342	ENSP00000361097:K342Q	ENSP00000361097:K342Q	K	-	1	0	MMRN2	88693497	.	.	0.133000	0.22050	0.927000	0.56198	.	.	1.859000	0.53934	0.379000	0.24179	AAG	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049179.2		-	ENST00000372027.5	Missense_Mutation	SNP	10 : 88703517 - 88703517 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	334	61
ELMOD1	55531	broad.mit.edu	37	11	107535879	107535879	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:107535879C>T	ENST00000531234.1	+	13	1501	c.943C>T	c.(943-945)Ctg>Ttg	p.L315L	ELMOD1_ENST00000443271.2_Silent_p.L313L|ELMOD1_ENST00000265840.7_Silent_p.L321L			Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	321					phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		AGACATGGCGCTGTGCCCACA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	139	137			NA	NA	11		NA											NA				107535879		2062	4204	6266	SO:0001819	synonymous_variant			AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675	55531	55531			25334	protein-coding gene	gene with protein product		615456	ELMO domain containing 1		NA	12477932	Standard	NM_018712	NM_018712	NA	Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000531234.1:c.943C>T	11.37:g.107535879C>T		NA	Q9NPW3	37																																																																																				ELMOD1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000389405.1		+	ENST00000531234.1	Silent	SNP	11 : 107535879 - 107535879 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	770	143
TEC	7006	broad.mit.edu	37	4	48147173	48147173	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48147173C>T	ENST00000381501.3	-	14	1550	c.1393G>A	c.(1393-1395)Gta>Ata	p.V465I	TEC_ENST00000511471.2_5'UTR	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	465	Protein kinase.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CTCAGCAGTACGTCTCTACTG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													211	186	194			NA	NA	4		NA											NA				48147173		2203	4300	6503	SO:0001583	missense			D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605	7006	7006		Pleckstrin homology (PH) domain containing, SH2 domain containing	11719	protein-coding gene	gene with protein product		600583			NA	7934162	Standard		NM_003215	NA	Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.1393G>A	4.37:g.48147173C>T	ENSP00000370912:p.Val465Ile	NA	B7ZKZ6|Q3MIS5	37	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	C	8.934	0.964254	0.18583	.	.	ENSG00000135605	ENST00000381501	D	0.82433	-1.61	5.61	-6.45	0.01914	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	1.303290	0.04815	N	0.435902	T	0.65365	0.2684	N	0.05383	-0.06	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.52990	-0.8501	10	0.33940	T	0.23	.	11.6645	0.51366	0.0824:0.2632:0.0:0.6544	.	465	P42680	TEC_HUMAN	I	465	ENSP00000370912:V465I	ENSP00000370912:V465I	V	-	1	0	TEC	47841930	0.000000	0.05858	0.010000	0.14722	0.975000	0.68041	-3.266000	0.00534	-1.167000	0.02779	0.491000	0.48974	GTA	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250492.3		-	ENST00000381501.3	Missense_Mutation	SNP	4 : 48147173 - 48147173 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	839	150
ENTPD7	57089	broad.mit.edu	37	10	101460751	101460751	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101460751T>G	ENST00000370489.4	+	11	1535	c.1357T>G	c.(1357-1359)Tcg>Gcg	p.S453A		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	453						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		CATGGCTTGGTCGGTACTAAC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													344	314	325			NA	NA	10		NA											NA				101460751		2203	4300	6503	SO:0001583	missense			AF269255	CCDS7480.1	10q23-q24	2004-07-01			ENSG00000198018	ENSG00000198018	57089	57089			19745	protein-coding gene	gene with protein product					NA	11278936	Standard	NM_020354	NM_020354	NA	Approved	LALP1, FLJ30978	uc001kqa.4	Q9NQZ7	OTTHUMG00000018888	ENST00000370489.4:c.1357T>G	10.37:g.101460751T>G	ENSP00000359520:p.Ser453Ala	NA	B2RB83|B3KP21|D3DR64	37	CCDS7480.1	.	.	.	.	.	.	.	.	.	.	T	11.92	1.783540	0.31593	.	.	ENSG00000198018	ENST00000370489	T	0.11169	2.8	5.21	0.0737	0.14392	.	0.595426	0.17637	N	0.167179	T	0.08758	0.0217	L	0.53561	1.675	0.09310	N	0.999991	B	0.22146	0.065	B	0.25884	0.064	T	0.28459	-1.0043	10	0.33940	T	0.23	-5.7712	2.3385	0.04253	0.1192:0.3135:0.1225:0.4448	.	453	Q9NQZ7	ENTP7_HUMAN	A	453	ENSP00000359520:S453A	ENSP00000359520:S453A	S	+	1	0	ENTPD7	101450741	0.001000	0.12720	0.910000	0.35882	0.597000	0.36814	-0.204000	0.09425	0.094000	0.17404	0.523000	0.50628	TCG	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049809.2		+	ENST00000370489.4	Missense_Mutation	SNP	10 : 101460751 - 101460751 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1037	265
NOTCH1	4851	broad.mit.edu	37	9	139412240	139412240	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139412240C>A	ENST00000277541.6	-	8	1480	c.1405G>T	c.(1405-1407)Gac>Tac	p.D469Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	469	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.D469N(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCAATCTGGTCCAGGCAGGTG	0.677		NA	T, Mis, O	TRB@	T-ALL					HNSCC(8;0.001)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		9	9q34.3	4851	Notch homolog 1, translocation-associated (Drosophila) (TAN1)		L	2	Substitution - Missense(2)	breast(2)											57	64	61			NA	NA	9		NA											NA				139412240		2138	4230	6368	SO:0001583	missense			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400	4851	4851		Ankyrin repeat domain containing	7881	protein-coding gene	gene with protein product		190198	Notch (Drosophila) homolog 1 (translocation-associated), Notch homolog 1, translocation-associated (Drosophila)	TAN1	NA	1831692	Standard	NM_017617	NM_017617	NA	Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1405G>T	9.37:g.139412240C>A	ENSP00000277541:p.Asp469Tyr	NA	Q59ED8|Q5SXM3	37	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.444221	0.83993	.	.	ENSG00000148400	ENST00000277541	D	0.92048	-2.96	4.57	4.57	0.56435	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97256	0.9103	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98713	1.0705	10	0.87932	D	0	.	16.3317	0.83023	0.0:1.0:0.0:0.0	.	469	P46531	NOTC1_HUMAN	Y	469	ENSP00000277541:D469Y	ENSP00000277541:D469Y	D	-	1	0	NOTCH1	138532061	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.258000	0.78371	2.088000	0.63022	0.462000	0.41574	GAC	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055087.1		-	ENST00000277541.6	Missense_Mutation	SNP	9 : 139412240 - 139412240 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	483	90
ZNF613	79898	broad.mit.edu	37	19	52448557	52448557	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52448557A>G	ENST00000293471.6	+	6	2100	c.1421A>G	c.(1420-1422)cAc>cGc	p.H474R	ZNF613_ENST00000391794.4_Missense_Mutation_p.H438R|ZNF613_ENST00000601794.1_3'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		CTCATTAACCACCAGAGAATT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	71	73			NA	NA	19		NA											NA				52448557		2203	4300	6503	SO:0001583	missense			AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08					79898	79898		Zinc fingers, C2H2-type, -	25827	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024840	NM_001031721	NA	Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.1421A>G	19.37:g.52448557A>G	ENSP00000293471:p.His474Arg	NA	Q96SS9	37	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	A	17.99	3.523677	0.64747	.	.	ENSG00000176024	ENST00000293471;ENST00000391794;ENST00000535279	D;D	0.86865	-2.18;-2.18	3.36	3.36	0.38483	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37530	N	0.002058	D	0.94542	0.8242	H	0.94964	3.605	0.35510	D	0.800563	D	0.89917	1.0	D	0.91635	0.999	D	0.97054	0.9766	10	0.87932	D	0	.	11.2125	0.48806	1.0:0.0:0.0:0.0	.	474	Q6PF04	ZN613_HUMAN	R	474;438;148	ENSP00000293471:H474R;ENSP00000375671:H438R	ENSP00000293471:H474R	H	+	2	0	ZNF613	57140369	1.000000	0.71417	0.967000	0.41034	0.990000	0.78478	5.074000	0.64401	1.543000	0.49345	0.533000	0.62120	CAC	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461104.2		+	ENST00000293471.6	Missense_Mutation	SNP	19 : 52448557 - 52448557 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	62
ASH1L	55870	broad.mit.edu	37	1	155408590	155408590	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155408590A>C	ENST00000368346.3	-	5	5995	c.5356T>G	c.(5356-5358)Ttg>Gtg	p.L1786V	ASH1L_ENST00000392403.3_Missense_Mutation_p.L1786V			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1786	Ser-rich.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTGCTTGTCAACTTTTCAGAT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	105	107			NA	NA	1		NA											NA				155408590		2203	4300	6503	SO:0001583	missense			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539	55870	55870		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	19088	protein-coding gene	gene with protein product		607999			NA	10860993, 16545939	Standard	NM_018489	NM_018489	NA	Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.5356T>G	1.37:g.155408590A>C	ENSP00000357330:p.Leu1786Val	NA	Q59GP1|Q5T714|Q5T715|Q9P2C7	37		.	.	.	.	.	.	.	.	.	.	A	13.55	2.271183	0.40194	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.88509	-2.39;-2.39	5.04	5.04	0.67666	.	0.308755	0.23714	N	0.045287	T	0.66616	0.2807	N	0.14661	0.345	0.80722	D	1	B;B	0.21606	0.034;0.058	B;B	0.18871	0.01;0.023	T	0.65043	-0.6264	10	0.24483	T	0.36	.	9.4335	0.38624	0.9199:0.0:0.0801:0.0	.	1786;1786	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	V	1786	ENSP00000357330:L1786V;ENSP00000376204:L1786V	ENSP00000357330:L1786V	L	-	1	2	ASH1L	153675214	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	1.828000	0.39111	2.253000	0.74438	0.533000	0.62120	TTG	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000039400.1		-	ENST00000368346.3	Missense_Mutation	SNP	1 : 155408590 - 155408590 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	724	131
CWC27	10283	broad.mit.edu	37	5	64081400	64081400	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:64081400C>T	ENST00000508024.1	+	5	690	c.489C>T	c.(487-489)agC>agT	p.S163S	CWC27_ENST00000381070.3_Silent_p.S163S			Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	163	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						AAATAAAAAGCTGTGAGGTAG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	120	123			NA	NA	5		NA											NA				64081400		2203	4300	6503	SO:0001819	synonymous_variant			AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015	10283	10283			10664	protein-coding gene	gene with protein product			serologically defined colon cancer antigen 10	SDCCAG10	NA	9610721, 19941820	Standard	NM_005869	XM_005248399	NA	Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000508024.1:c.489C>T	5.37:g.64081400C>T		NA	O60529|O60530|Q96EM3	37																																																																																				CWC27-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000368753.1		+	ENST00000508024.1	Silent	SNP	5 : 64081400 - 64081400 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	378	90
HPS4	89781	broad.mit.edu	37	22	26861460	26861460	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26861460G>T	ENST00000398145.2	-	10	1380	c.764C>A	c.(763-765)gCc>gAc	p.A255D	HPS4_ENST00000398141.1_Missense_Mutation_p.A268D|HPS4_ENST00000402105.3_Missense_Mutation_p.A250D|HPS4_ENST00000336873.5_Missense_Mutation_p.A255D	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	255					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GAGACTAATGGCTTCCTCTTT	0.512		NA							Hermansky-Pudlak syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	117	123			NA	NA	22		NA											NA				26861460		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	HPS, HPS1-8		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099	89781	89781			15844	protein-coding gene	gene with protein product		606682			NA	11836498, 12663659	Standard	NM_022081	NM_022081	NA	Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.764C>A	22.37:g.26861460G>T	ENSP00000381213:p.Ala255Asp	NA	B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	37	CCDS13835.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.614690	0.28712	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873;ENST00000312736;ENST00000422379	T;D;T;T;D	0.88741	1.36;-2.42;1.36;1.36;-2.42	4.6	1.76	0.24704	.	1.063930	0.07167	N	0.851742	D	0.91026	0.7177	L	0.55481	1.735	0.09310	N	1	D;P;P;D;B;P	0.69078	0.997;0.944;0.944;0.997;0.413;0.944	D;P;P;D;B;P	0.64410	0.925;0.733;0.66;0.925;0.319;0.66	T	0.77640	-0.2512	10	0.36615	T	0.2	-6.8662	5.997	0.19499	0.4162:0.0:0.5838:0.0	.	255;255;255;255;268;250	Q6ICH6;Q6P1K3;Q9NQG7;A8K2E6;Q9NQG7-4;Q9NQG7-3	.;.;HPS4_HUMAN;.;.;.	D	255;268;250;255;273;273	ENSP00000381213:A255D;ENSP00000381210:A268D;ENSP00000384185:A250D;ENSP00000338457:A255D;ENSP00000415081:A273D	ENSP00000325840:A273D	A	-	2	0	HPS4	25191460	0.811000	0.29063	0.177000	0.23020	0.024000	0.10985	1.182000	0.32029	0.262000	0.21774	0.655000	0.94253	GCC	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320778.1		-	ENST00000398145.2	Missense_Mutation	SNP	22 : 26861460 - 26861460 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	390	71
TMEM200A	114801	broad.mit.edu	37	6	130762475	130762475	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:130762475C>A	ENST00000296978.3	+	3	1779	c.908C>A	c.(907-909)cCc>cAc	p.P303H	TMEM200A_ENST00000392429.1_Missense_Mutation_p.P303H|TMEM200A_ENST00000545622.1_Missense_Mutation_p.P303H	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	303						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		ATTGATGAGCCCAGTATAGAT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	124	125			NA	NA	6		NA											NA				130762475		2203	4300	6503	SO:0001583	missense			AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484	114801	114801			21075	protein-coding gene	gene with protein product			KIAA1913	KIAA1913	NA	15722956	Standard	NM_052913	NM_001258276	NA	Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.908C>A	6.37:g.130762475C>A	ENSP00000296978:p.Pro303His	NA	Q96PX5	37	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400639	0.83120	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.59756	0.2217	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.65224	-0.6220	9	0.72032	D	0.01	-33.6773	20.3368	0.98748	0.0:1.0:0.0:0.0	.	303	Q86VY9	T200A_HUMAN	H	303	.	ENSP00000296978:P303H	P	+	2	0	TMEM200A	130804168	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.818000	0.86416	2.805000	0.96524	0.655000	0.94253	CCC	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042201.1		+	ENST00000296978.3	Missense_Mutation	SNP	6 : 130762475 - 130762475 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	451	78
CYB5R3	1727	broad.mit.edu	37	22	43032837	43032837	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43032837G>T	ENST00000352397.5	-	2	289	c.37C>A	c.(37-39)Ctc>Atc	p.L13I	CYB5R3_ENST00000407332.1_5'UTR|CYB5R3_ENST00000402438.1_5'UTR|CYB5R3_ENST00000396303.3_5'UTR|CYB5R3_ENST00000361740.4_Missense_Mutation_p.L46I|CYB5R3_ENST00000407623.3_5'UTR	NM_000398.6	NP_000389.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	13					blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					NADH(DB00157)	ACTGGGAAGAGCACCATATGG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	64	68			NA	NA	22		NA											NA				43032837		2203	4300	6503	SO:0001583	missense			M16461	CCDS14040.1, CCDS33658.1, CCDS54535.1	22q13.2	2012-10-02		2005-07-13	ENSG00000100243	ENSG00000100243	1727	1727	1.6.2.2		2873	protein-coding gene	gene with protein product		613213	diaphorase (NADH) (cytochrome b-5 reductase)	DIA1	NA	2479590, 3268037	Standard		NM_001129819	NA	Approved		uc011aps.2	P00387	OTTHUMG00000150745	ENST00000352397.5:c.37C>A	22.37:g.43032837G>T	ENSP00000338461:p.Leu13Ile	NA	B1AHF2|O75675|Q8TDL8|Q8WTS8|Q9UEN4|Q9UEN5|Q9UL55|Q9UL56	37	CCDS33658.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198982	0.38806	.	.	ENSG00000100243	ENST00000361740;ENST00000352397	D;D	0.87571	-2.27;-2.2	4.96	2.68	0.31781	.	0.873704	0.10018	N	0.726296	T	0.78381	0.4274	L	0.29908	0.895	0.80722	D	1	B;B	0.15473	0.013;0.002	B;B	0.10450	0.005;0.004	T	0.67616	-0.5625	10	0.21540	T	0.41	-29.9184	8.1457	0.31110	0.0:0.2946:0.5437:0.1617	.	46;13	B7Z7L3;P00387	.;NB5R3_HUMAN	I	46;13	ENSP00000354468:L46I;ENSP00000338461:L13I	ENSP00000338461:L13I	L	-	1	0	CYB5R3	41362781	0.874000	0.30092	0.999000	0.59377	0.861000	0.49209	0.867000	0.27968	1.206000	0.43276	0.467000	0.42956	CTC	CYB5R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320439.1		-	ENST00000352397.5	Missense_Mutation	SNP	22 : 43032837 - 43032837 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	189	27
ZBED4	9889	broad.mit.edu	37	22	50277250	50277250	+	Translation_Start_Site	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50277250A>T	ENST00000216268.5	+	0	417					NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	NA						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GGGGGCACAAATGAGCACTTG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA					AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426	9889	9889		Zinc fingers, BED-type	20721	protein-coding gene	gene with protein product		612552			NA	23533661	Standard	NM_014838	NM_014838	NA	Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.-61A>T	22.37:g.50277250A>T		NA	B2RZH1|Q1ECU0|Q9UGG8	37	CCDS33677.1																																																																																			ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317408.2		+	ENST00000216268.5	De_novo_Start_OutOfFrame	SNP	22 : 50277250 - 50277250 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	143	28
MMP14	4323	broad.mit.edu	37	14	23311685	23311685	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23311685C>T	ENST00000311852.6	+	4	708	c.447C>T	c.(445-447)cgC>cgT	p.R149R	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	149						extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		AGGCGTTCCGCGTGTGGGAGA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	55	63			NA	NA	14		NA											NA				23311685		2203	4300	6503	SO:0001819	synonymous_variant				CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227	4323	4323			7160	protein-coding gene	gene with protein product	membrane type 1 metalloprotease	600754	matrix metalloproteinase 14 (membrane-inserted)		NA	8015608	Standard	NM_004995	NM_004995	NA	Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.447C>T	14.37:g.23311685C>T		NA	A8K5L0|Q6GSF3|Q92678	37	CCDS9577.1																																																																																			MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071660.3		+	ENST00000311852.6	Silent	SNP	14 : 23311685 - 23311685 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	174	30
MFAP3L	9848	broad.mit.edu	37	4	170912876	170912876	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:170912876G>A	ENST00000361618.3	-	3	1190	c.883C>T	c.(883-885)Cgg>Tgg	p.R295W	RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Missense_Mutation_p.R192W	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	295						integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		GAGTCGCTCCGCTTCAGAGAG	0.582		NA											G	1	5e-04	NA	0.0028	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9135	LOWCOV,EXOME	NA	NA	2e-04	SNP								NA				0													45	44	44			NA	NA	4		NA											NA				170912876		2203	4300	6503	SO:0001583	missense			AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948	9848	9848		Immunoglobulin superfamily / I-set domain containing	29083	protein-coding gene	gene with protein product					NA	9734811	Standard	NM_021647	XM_005263366	NA	Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.883C>T	4.37:g.170912876G>A	ENSP00000354583:p.Arg295Trp	NA	A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	37	CCDS34103.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	13.62	2.291683	0.40594	.	.	ENSG00000198948	ENST00000393704;ENST00000361618	D;D	0.98968	-5.28;-2.39	5.41	4.53	0.55603	.	0.053234	0.85682	D	0.000000	D	0.98551	0.9516	L	0.52011	1.625	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.99323	1.0907	10	0.72032	D	0.01	-15.6816	13.0861	0.59142	0.0:0.0:0.6621:0.3379	.	295	O75121	MFA3L_HUMAN	W	192;295	ENSP00000377307:R192W;ENSP00000354583:R295W	ENSP00000354583:R295W	R	-	1	2	MFAP3L	171149451	1.000000	0.71417	0.990000	0.47175	0.022000	0.10575	3.062000	0.49971	1.154000	0.42482	0.650000	0.86243	CGG	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363043.2		-	ENST00000361618.3	Missense_Mutation	SNP	4 : 170912876 - 170912876 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	376	74
MLXIPL	51085	broad.mit.edu	37	7	73010506	73010506	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73010506G>A	ENST00000313375.3	-	13	2082	c.2035C>T	c.(2035-2037)Ctc>Ttc	p.L679F	MLXIPL_ENST00000429400.2_Missense_Mutation_p.L679F|MLXIPL_ENST00000395189.1_Missense_Mutation_p.L586F|MLXIPL_ENST00000354613.1_Missense_Mutation_p.L677F|MLXIPL_ENST00000434326.1_Missense_Mutation_p.L585F|MLXIPL_ENST00000414749.2_Missense_Mutation_p.L677F	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	679					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGGGCACTGAGTGTGCTCACG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	47	47			NA	NA	7		NA											NA				73010506		2203	4300	6503	SO:0001583	missense			AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950	51085	51085			12744	protein-coding gene	gene with protein product	carbohydrate response element binding protein	605678	Williams Beuren syndrome chromosome region 14	WBSCR14	NA	9860302	Standard	NM_032951	XM_005250399	NA	Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.2035C>T	7.37:g.73010506G>A	ENSP00000320886:p.Leu679Phe	NA	C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	37	CCDS5553.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107634	0.77096	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326	D;D;D;D;D;D	0.98617	-4.75;-5.03;-4.75;-5.03;-4.75;-4.75	5.38	4.5	0.54988	.	0.000000	0.64402	D	0.000001	D	0.98795	0.9594	M	0.78344	2.41	0.44677	D	0.997665	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;0.998	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.975;0.987	D	0.98052	1.0388	10	0.36615	T	0.2	-34.5749	11.168	0.48554	0.0894:0.0:0.9106:0.0	.	586;679;679;677;677	Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;MLXPL_HUMAN;.;.;.	F	677;679;679;677;586;585	ENSP00000412330:L677F;ENSP00000406296:L679F;ENSP00000320886:L679F;ENSP00000346629:L677F;ENSP00000378616:L586F;ENSP00000392636:L585F	ENSP00000320886:L679F	L	-	1	0	MLXIPL	72648442	1.000000	0.71417	0.856000	0.33681	0.977000	0.68977	6.734000	0.74801	2.530000	0.85305	0.558000	0.71614	CTC	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252262.1		-	ENST00000313375.3	Missense_Mutation	SNP	7 : 73010506 - 73010506 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	344	68
SIGLEC5	8778	broad.mit.edu	37	19	52131089	52131089	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52131089T>C	ENST00000534261.2	-	6	1394	c.995A>G	c.(994-996)tAc>tGc	p.Y332C	SIGLEC5_ENST00000429354.3_Missense_Mutation_p.Y332C|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.Y332C|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.Y332C|SIGLEC5_ENST00000222107.4_Missense_Mutation_p.Y332C			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	332					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		ACACTCACAGTAAACTGAGAG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	26	25			NA	NA	19		NA											NA				52131089		2194	4297	6491	SO:0001583	missense			U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501	8778	8778		Sialic acid binding Ig-like lectins, CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	10874	protein-coding gene	gene with protein product		604200		CD33L2	NA	10343116	Standard	NM_003830	NM_003830	NA	Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.995A>G	19.37:g.52131089T>C	ENSP00000473238:p.Tyr332Cys	NA		37	CCDS33088.1	.	.	.	.	.	.	.	.	.	.	T	6.664	0.491118	0.12702	.	.	ENSG00000105501	ENST00000222107;ENST00000429354	T;T	0.15603	2.41;2.41	3.63	-6.49	0.01890	.	.	.	.	.	T	0.06416	0.0165	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.34502	-0.9826	9	0.39692	T	0.17	.	5.1519	0.15015	0.5989:0.1984:0.0:0.2026	.	332	O15389	SIGL5_HUMAN	C	332	ENSP00000222107:Y332C;ENSP00000415200:Y332C	ENSP00000222107:Y332C	Y	-	2	0	SIGLEC5	56822901	0.000000	0.05858	0.000000	0.03702	0.123000	0.20343	-1.955000	0.01523	-1.795000	0.01255	-0.421000	0.06004	TAC	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466897.2		-	ENST00000534261.2	Missense_Mutation	SNP	19 : 52131089 - 52131089 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	261	58
LRRC49	54839	broad.mit.edu	37	15	71276472	71276472	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:71276472T>C	ENST00000560691.1	+	13	1493	c.163T>C	c.(163-165)Tgg>Cgg	p.W55R	LRRC49_ENST00000560369.1_Missense_Mutation_p.W354R|LRRC49_ENST00000560158.2_Missense_Mutation_p.W37R|LRRC49_ENST00000260382.5_Missense_Mutation_p.W349R|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000443425.2_Missense_Mutation_p.W305R|LRRC49_ENST00000544974.2_Missense_Mutation_p.W339R			Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	349						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AGCTCGACAGTGGGACTTGCA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	95	100			NA	NA	15		NA											NA				71276472		2199	4297	6496	SO:0001583	missense				CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821	54839	54839			25965	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_017691	NM_001199017	NA	Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000560691.1:c.163T>C	15.37:g.71276472T>C	ENSP00000454170:p.Trp55Arg	NA	Q9NXM6	37		.	.	.	.	.	.	.	.	.	.	T	13.37	2.218337	0.39201	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.22743	1.94;1.94;1.94	4.31	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.42314	0.1197	M	0.68952	2.095	0.54753	D	0.999983	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;0.999	T	0.28618	-1.0038	10	0.51188	T	0.08	-0.4011	11.7414	0.51794	0.0:0.0:0.0:1.0	.	354;321;305;349;339	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	R	339;349;305;321	ENSP00000439600:W339R;ENSP00000260382:W349R;ENSP00000414065:W305R	ENSP00000260382:W349R	W	+	1	0	LRRC49	69063526	0.998000	0.40836	1.000000	0.80357	0.143000	0.21401	4.186000	0.58337	1.939000	0.56221	0.383000	0.25322	TGG	LRRC49-008	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000417216.1		+	ENST00000560691.1	Missense_Mutation	SNP	15 : 71276472 - 71276472 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	258	50
TCF25	22980	broad.mit.edu	37	16	89977587	89977587	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89977587C>T	ENST00000263346.8	+	18	2028	c.1972C>T	c.(1972-1974)Ctc>Ttc	p.L658F	TCF25_ENST00000263347.7_Missense_Mutation_p.P462L|RP11-566K11.7_ENST00000570217.1_RNA	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	658					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		CAACTTCCACCTCAACGACCT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	54	55			NA	NA	16		NA											NA				89977587		2194	4297	6491	SO:0001583	missense			AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002	22980	22980			29181	protein-coding gene	gene with protein product		612326			NA	12107429, 16574069	Standard	NM_014972	NM_014972	NA	Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.1972C>T	16.37:g.89977587C>T	ENSP00000263346:p.Leu658Phe	NA	Q2MK75|Q9UPV3	37	CCDS10987.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.77|17.77	3.472323|3.472323	0.63737|0.63737	.|.	.|.	ENSG00000141002|ENSG00000141002	ENST00000263346|ENST00000263347	.|.	.|.	.|.	5.21|5.21	4.12|4.12	0.48240|0.48240	.|.	0.117444|.	0.64402|.	N|.	0.000008|.	T|T	0.16727|0.16727	0.0402|0.0402	N|N	0.01188|0.01188	-0.97|-0.97	0.32697|0.32697	N|N	0.513374|0.513374	B|B	0.02656|0.02656	0.0|0.0	B|B	0.01281|0.04013	0.0|0.001	T|T	0.08513|0.08513	-1.0718|-1.0718	9|8	0.02654|0.87932	T|D	1|0	.|.	7.251|7.251	0.26150|0.26150	0.0:0.1071:0.0:0.8929|0.0:0.1071:0.0:0.8929	.|.	658|462	Q9BQ70|Q9H384	TCF25_HUMAN|.	F|L	658|462	.|.	ENSP00000263346:L658F|ENSP00000263347:P462L	L|P	+|+	1|2	0|0	TCF25|TCF25	88505088|88505088	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	4.827000|4.827000	0.62723|0.62723	0.843000|0.843000	0.35070|0.35070	0.561000|0.561000	0.74099|0.74099	CTC|CCT	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000272875.2		+	ENST00000263346.8	Missense_Mutation	SNP	16 : 89977587 - 89977587 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	588	77
DNAH10OS	642797	broad.mit.edu	37	12	124415935	124415935	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124415935C>A	ENST00000514254.2	-	2	920				DNAH10_ENST00000409039.3_Missense_Mutation_p.L4160I|CCDC92_ENST00000544798.1_Intron					dynein, axonemal, heavy chain 10 opposite strand	NA											NA						AGTGTTTGGTCTCCACCCCAA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	64	62			NA	NA	12		NA											NA				124415935		2125	4229	6354	SO:0001627	intron_variant			AK127211		12q24.31	2013-01-23	2010-02-09		ENSG00000250091	ENSG00000250091	642797	642797			37121	protein-coding gene	gene with protein product			dynein, axonemal, heavy chain 10 opposite strand, dynein, axonemal, heavy chain 10 opposite strand (non-protein coding)		NA	19726446	Standard			NA	Approved	FLJ45278		P0CZ25	OTTHUMG00000162010	ENST00000514254.2:c.490-845G>T	12.37:g.124415935C>A		NA		37		.	.	.	.	.	.	.	.	.	.	C	22.5	4.296746	0.81025	.	.	ENSG00000197653	ENST00000409039	T	0.21031	2.03	5.61	5.61	0.85477	Dynein heavy chain (1);	0.000000	0.64402	D	0.000001	T	0.64940	0.2644	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78168	-0.2309	10	0.72032	D	0.01	.	19.6276	0.95684	0.0:1.0:0.0:0.0	.	4160	Q8IVF4	DYH10_HUMAN	I	4160	ENSP00000386770:L4160I	ENSP00000386770:L4160I	L	+	1	0	DNAH10	122981888	1.000000	0.71417	0.382000	0.26119	0.573000	0.36030	6.049000	0.71053	2.637000	0.89404	0.650000	0.86243	CTC	DNAH10OS-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000366728.3		-	ENST00000514254.2	Intron	SNP	12 : 124415935 - 124415935 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	219	53
DNAL4	10126	broad.mit.edu	37	22	39176946	39176946	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39176946G>T	ENST00000216068.4	-	3	382	c.138C>A	c.(136-138)ttC>ttA	p.F46L	DNAL4_ENST00000406199.3_Missense_Mutation_p.F46L|DNAL4_ENST00000486019.1_Intron|SUN2_ENST00000406622.1_Intron	NM_005740.2	NP_005731.1	O96015	DNAL4_HUMAN	dynein, axonemal, light chain 4	46					microtubule-based movement|nerve growth factor receptor signaling pathway	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|plasma membrane	ATPase activity, coupled|microtubule motor activity			lung(1)|skin(1)	2	Melanoma(58;0.04)					TGTTGTTGGAGAATTTCTCAC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	114	125			NA	NA	22		NA											NA				39176946		2203	4300	6503	SO:0001583	missense			AL035366	CCDS13979.1	22q13.1	2008-06-10	2006-09-04		ENSG00000100246	ENSG00000100246	10126	10126		Axonemal dyneins	2955	protein-coding gene	gene with protein product		610565	dynein, axonemal, light polypeptide 4, dynein, axonemal, light 4		NA	10591208	Standard	NM_005740	NM_005740	NA	Approved	dJ327J16, PIG27	uc003awj.3	O96015	OTTHUMG00000151025	ENST00000216068.4:c.138C>A	22.37:g.39176946G>T	ENSP00000216068:p.Phe46Leu	NA		37	CCDS13979.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310387	0.60414	.	.	ENSG00000100246	ENST00000216068;ENST00000406199	.	.	.	5.21	4.2	0.49525	.	0.193608	0.56097	D	0.000037	T	0.65281	0.2676	M	0.81239	2.535	0.51012	D	0.999905	B	0.21225	0.053	B	0.35353	0.201	T	0.66654	-0.5869	9	0.48119	T	0.1	.	7.6392	0.28284	0.2353:0.0:0.7647:0.0	.	46	O96015	DNAL4_HUMAN	L	46	.	ENSP00000216068:F46L	F	-	3	2	DNAL4	37506892	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.204000	0.42761	2.428000	0.82296	0.561000	0.74099	TTC	DNAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321032.1		-	ENST00000216068.4	Missense_Mutation	SNP	22 : 39176946 - 39176946 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	238	46
POLM	27434	broad.mit.edu	37	7	44118348	44118348	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44118348C>A	ENST00000335195.6	-	5	730	c.705G>T	c.(703-705)caG>caT	p.Q235H	POLM_ENST00000242248.5_Missense_Mutation_p.Q235H|POLM_ENST00000395831.3_Intron	NM_001284331.1	NP_001271260.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	235					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CCTTCATGGTCTGGTACCTCT	0.607		NA						DNA polymerases (catalytic subunits)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	98	114			NA	NA	7		NA											NA				44118348		2203	4300	6503	SO:0001583	missense			AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678	27434	27434		DNA polymerases	9185	protein-coding gene	gene with protein product	Pol iota	606344			NA	10982892	Standard	NM_013284	XM_005249708	NA	Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000335195.6:c.705G>T	7.37:g.44118348C>A	ENSP00000335141:p.Gln235His	NA	D3DVK4	37		.	.	.	.	.	.	.	.	.	.	C	15.53	2.861878	0.51482	.	.	ENSG00000122678	ENST00000335195;ENST00000242248	T;T	0.47177	2.38;0.85	5.91	4.12	0.48240	DNA-directed DNA polymerase X (1);DNA polymerase lambda, fingers domain (1);	.	.	.	.	T	0.56906	0.2017	M	0.64404	1.975	0.80722	D	1	D;D;D;D	0.63880	0.958;0.963;0.993;0.987	P;P;P;P	0.56823	0.748;0.662;0.807;0.739	T	0.58092	-0.7697	9	0.66056	D	0.02	.	9.1492	0.36953	0.0:0.8334:0.0:0.1666	.	202;235;235;235	B4DG75;Q6PIY2;Q6P5X8;Q9NP87	.;.;.;DPOLM_HUMAN	H	235	ENSP00000335141:Q235H;ENSP00000242248:Q235H	ENSP00000242248:Q235H	Q	-	3	2	POLM	44084873	0.995000	0.38212	0.987000	0.45799	0.947000	0.59692	0.638000	0.24674	0.851000	0.35264	0.650000	0.86243	CAG	POLM-010	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000339602.1		-	ENST00000335195.6	Missense_Mutation	SNP	7 : 44118348 - 44118348 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	417	67
TCERG1	10915	broad.mit.edu	37	5	145838887	145838887	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145838887G>A	ENST00000296702.5	+	4	917	c.879G>A	c.(877-879)gcG>gcA	p.A293A	TCERG1_ENST00000394421.2_Silent_p.A293A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	293	Thr-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTCAGTTGCGCAGACAGTAT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	143	147			NA	NA	5		NA											NA				145838887		2203	4300	6503	SO:0001819	synonymous_variant			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649	10915	10915			15630	protein-coding gene	gene with protein product	transcription factor CA150, co-activator of 150 kDa, TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD, TATA box-binding protein-associated factor 2S	605409	TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD	TAF2S	NA	9315662, 11003711	Standard	NM_001040006	XM_005268365	NA	Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.879G>A	5.37:g.145838887G>A		NA	Q2NKN2|Q59EA1	37	CCDS4282.1																																																																																			TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251886.1		+	ENST00000296702.5	Silent	SNP	5 : 145838887 - 145838887 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	602	134
TNNC1	7134	broad.mit.edu	37	3	52485422	52485422	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52485422G>A	ENST00000232975.3	-	5	493	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C		NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN	troponin C type 1 (slow)	147	EF-hand 4.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding	p.R147C(1)		endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	TAGTCGATGCGGCCGTCGTTG	0.592		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)											188	137	154			NA	NA	3		NA											NA				52485422		2203	4300	6503	SO:0001583	missense				CCDS2857.1	3p21.1	2014-09-17	2005-09-12		ENSG00000114854	ENSG00000114854	7134	7134		EF-hand domain containing	11943	protein-coding gene	gene with protein product		191040	troponin C, slow	TNNC	NA		Standard		NM_003280	NA	Approved		uc003deb.3	P63316	OTTHUMG00000158572	ENST00000232975.3:c.439C>T	3.37:g.52485422G>A	ENSP00000232975:p.Arg147Cys	NA	O14800|P02590|P04463	37	CCDS2857.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.071955	0.55646	.	.	ENSG00000114854	ENST00000232975	T	0.72505	-0.66	5.28	4.32	0.51571	EF-hand-like domain (1);	0.045312	0.85682	D	0.000000	T	0.64427	0.2597	L	0.60067	1.865	0.80722	D	1	P	0.47962	0.903	B	0.39771	0.309	T	0.70842	-0.4762	10	0.87932	D	0	.	10.6775	0.45794	0.0:0.0:0.5674:0.4326	.	147	P63316	TNNC1_HUMAN	C	147	ENSP00000232975:R147C	ENSP00000232975:R147C	R	-	1	0	TNNC1	52460462	1.000000	0.71417	1.000000	0.80357	0.422000	0.31414	3.222000	0.51223	2.471000	0.83476	0.561000	0.74099	CGC	TNNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351371.1		-	ENST00000232975.3	Missense_Mutation	SNP	3 : 52485422 - 52485422 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	48
MID1	4281	broad.mit.edu	37	X	10427733	10427733	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:10427733T>A	ENST00000317552.4	-	8	1800	c.1400A>T	c.(1399-1401)aAc>aTc	p.N467I	MID1_ENST00000380780.1_Missense_Mutation_p.N467I|MID1_ENST00000380779.1_Missense_Mutation_p.N467I|MID1_ENST00000380785.1_Missense_Mutation_p.N467I|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380787.1_Missense_Mutation_p.N467I|MID1_ENST00000380782.2_Missense_Mutation_p.N467I|MID1_ENST00000453318.2_Missense_Mutation_p.N467I	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	467	Fibronectin type-III.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCCCGCCTGGTTGATGGCCTT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													207	153	172			NA	NA	X		NA											NA				10427733		2203	4300	6503	SO:0001583	missense			Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871	NA	4281		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers, Fibronectin type III domain containing	7095	protein-coding gene	gene with protein product	Opitz/BBB syndrome	300552			NA	9354791, 9425238	Standard		NM_001098624	NA	Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.1400A>T	X.37:g.10427733T>A	ENSP00000312678:p.Asn467Ile	NA	B2RCG2|O75361|Q9BZX5	37	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.641151	0.87859	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000380782;ENST00000454373;ENST00000413894	T;T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.34	5.34	0.76211	Fibronectin, type III (4);B30.2/SPRY domain (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.70456	0.3226	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.73953	-0.3820	10	0.72032	D	0.01	.	14.4277	0.67227	0.0:0.0:0.0:1.0	.	467;467;417	A8K5A0;O15344;B4DLX8	.;TRI18_HUMAN;.	I	467;467;467;467;467;467;467;417;467	ENSP00000414521:N467I;ENSP00000312678:N467I;ENSP00000370162:N467I;ENSP00000370156:N467I;ENSP00000370164:N467I;ENSP00000370157:N467I;ENSP00000370159:N467I;ENSP00000391154:N467I	ENSP00000312678:N467I	N	-	2	0	MID1	10387733	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.538000	0.82048	1.787000	0.52448	0.481000	0.45027	AAC	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055738.1		-	ENST00000317552.4	Missense_Mutation	SNP	X : 10427733 - 10427733 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	722	200
ZNF473	25888	broad.mit.edu	37	19	50548627	50548627	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50548627G>A	ENST00000595661.1	+	6	1422	c.927G>A	c.(925-927)gaG>gaA	p.E309E	CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000270617.3_Silent_p.E309E|ZNF473_ENST00000391821.2_Silent_p.E309E|ZNF473_ENST00000445728.3_Silent_p.E297E|ZNF473_ENST00000601364.1_Intron			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	309			E -> G (in dbSNP:rs16981706).		histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AGCCTGGTGAGCATCAGAAAA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	95	95			NA	NA	19		NA											NA				50548627		2203	4300	6503	SO:0001819	synonymous_variant			AB032967	CCDS33077.1	19q13.33	2013-01-08					25888	25888		Zinc fingers, C2H2-type, -	23239	protein-coding gene	gene with protein product					NA	11782445	Standard	XM_046390	NM_015428	NA	Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.927G>A	19.37:g.50548627G>A		NA	A8K8T7|Q9ULS9|Q9Y4Q7	37	CCDS33077.1																																																																																			ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464833.1		+	ENST00000595661.1	Silent	SNP	19 : 50548627 - 50548627 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	630	113
FILIP1	27145	broad.mit.edu	37	6	76023250	76023250	+	Silent	SNP	C	C	T	rs147346630		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76023250C>T	ENST00000393004.2	-	5	2519	c.2298G>A	c.(2296-2298)ggG>ggA	p.G766G	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Silent_p.G766G|FILIP1_ENST00000370020.1_Silent_p.G667G			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	766										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GAACCTCCTGCCCCATGTTTT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	131	129			NA	NA	6		NA											NA				76023250		2203	4300	6503	SO:0001819	synonymous_variant			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407	27145	27145			21015	protein-coding gene	gene with protein product		607307			NA	10574462	Standard	XM_029179	XM_005248713	NA	Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000393004.2:c.2298G>A	6.37:g.76023250C>T		NA	B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	37																																																																																				FILIP1-004	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000471226.1		-	ENST00000393004.2	Silent	SNP	6 : 76023250 - 76023250 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	699	100
CCDC60	160777	broad.mit.edu	37	12	119909945	119909945	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119909945T>A	ENST00000327554.2	+	3	782	c.317T>A	c.(316-318)aTc>aAc	p.I106N	CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	106										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		ATCTCAGAAATCCACTATGGG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	177	175			NA	NA	12		NA											NA				119909945		2203	4300	6503	SO:0001583	missense			BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273	160777	160777			28610	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_178499	NM_178499	NA	Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.317T>A	12.37:g.119909945T>A	ENSP00000333374:p.Ile106Asn	NA		37	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.097657	0.56075	.	.	ENSG00000183273	ENST00000327554	T	0.26223	1.75	5.22	2.75	0.32379	.	0.606715	0.15846	N	0.241777	T	0.28863	0.0716	M	0.63428	1.95	0.09310	N	1	P	0.49559	0.925	P	0.48840	0.592	T	0.14504	-1.0470	9	.	.	.	-13.3902	3.3754	0.07235	0.2556:0.111:0.0:0.6334	.	106	Q8IWA6	CCD60_HUMAN	N	106	ENSP00000333374:I106N	.	I	+	2	0	CCDC60	118394328	0.001000	0.12720	0.063000	0.19743	0.130000	0.20726	0.454000	0.21827	0.837000	0.34925	0.334000	0.21626	ATC	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401680.1		+	ENST00000327554.2	Missense_Mutation	SNP	12 : 119909945 - 119909945 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1335	250
MAP3K4	4216	broad.mit.edu	37	6	161518151	161518151	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161518151G>A	ENST00000392142.4	+	16	3615	c.3467G>A	c.(3466-3468)cGa>cAa	p.R1156Q	MAP3K4_ENST00000348824.7_Missense_Mutation_p.R1152Q|MAP3K4_ENST00000366920.2_Missense_Mutation_p.R1152Q|MAP3K4_ENST00000366919.2_Missense_Mutation_p.R1156Q	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1156					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.R1156Q(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AAGGTACCTCGATGCCATAGT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	endometrium(2)											193	154	167			NA	NA	6		NA											NA				161518151		2203	4300	6503	SO:0001583	missense			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511	4216	4216		Mitogen-activated protein kinase cascade / Kinase kinase kinases	6856	protein-coding gene	gene with protein product		602425		MEKK4	NA	9305639	Standard		XM_005266988	NA	Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.3467G>A	6.37:g.161518151G>A	ENSP00000375986:p.Arg1156Gln	NA	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	37	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	G	36	5.835979	0.97003	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.73897	-0.79;-0.72;-0.62;-0.73	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000002	T	0.77685	0.4167	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	0.999;0.97;0.999;1.0	D;B;D;D	0.83275	0.928;0.186;0.99;0.996	T	0.76247	-0.3029	10	0.45353	T	0.12	-14.0529	20.6208	0.99490	0.0:0.0:1.0:0.0	.	1152;142;1156;1156	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	Q	1156;1156;1156;1152;1152	ENSP00000355886:R1156Q;ENSP00000375986:R1156Q;ENSP00000355887:R1152Q;ENSP00000297332:R1152Q	ENSP00000297332:R1152Q	R	+	2	0	MAP3K4	161438141	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.230000	0.95299	2.882000	0.98803	0.655000	0.94253	CGA	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042988.3		+	ENST00000392142.4	Missense_Mutation	SNP	6 : 161518151 - 161518151 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	401	72
CUL4B	8450	broad.mit.edu	37	X	119668405	119668405	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119668405G>A	ENST00000371322.5	-	17	2258	c.2197C>T	c.(2197-2199)Ctg>Ttg	p.L733L	CUL4B_ENST00000404115.3_Silent_p.L751L|CUL4B_ENST00000336592.6_Silent_p.L738L	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	751					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGCAGCACCAGTGTTTGAAAA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	148	151			NA	NA	X		NA											NA				119668405		2203	4300	6503	SO:0001819	synonymous_variant			U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290	8450	8450			2555	protein-coding gene	gene with protein product		300304			NA	8681378	Standard	NM_003588	NM_003588	NA	Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000371322.5:c.2197C>T	X.37:g.119668405G>A		NA	B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	37	CCDS43987.1																																																																																			CUL4B-003	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058105.1		-	ENST00000371322.5	Silent	SNP	X : 119668405 - 119668405 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	671	23
CLCN7	1186	broad.mit.edu	37	16	1509188	1509188	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1509188G>A	ENST00000382745.4	-	7	1200	c.595C>T	c.(595-597)Ccg>Tcg	p.P199S	CLCN7_ENST00000262318.8_Splice_Site_p.P175S|CLCN7_ENST00000448525.1_Splice_Site_p.P175S	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	199						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GCAGCCACCGGCTGAAAGAGG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	36	35			NA	NA	16		NA											NA				1509188		2197	4300	6497	SO:0001630	splice_region_variant			Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249	1186	1186		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Ion channels / Chloride channels : Voltage-sensitive	2025	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 63	602727	chloride channel 7		NA	8543009	Standard	NM_001287	NM_001114331	NA	Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.595-1C>T	16.37:g.1509188G>A		NA	A6NEJ7|A8K5T9|Q9NYX5	37	CCDS32361.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224290	0.79576	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.82984	-1.67;-1.67	4.67	4.67	0.58626	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.92296	0.7556	M	0.92691	3.335	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.976	D	0.93486	0.6831	10	0.87932	D	0	-20.5361	11.72	0.51677	0.0:0.0:0.8233:0.1767	.	175;199	E9PDB9;P51798	.;CLCN7_HUMAN	S	175;152;199;141	ENSP00000410907:P175S;ENSP00000372193:P199S	ENSP00000262318:P152S	P	-	1	0	CLCN7	1449189	1.000000	0.71417	0.689000	0.30133	0.060000	0.15804	6.343000	0.72986	2.314000	0.78098	0.655000	0.94253	CCG	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000103598.2	Missense_Mutation	-	ENST00000382745.4	Splice_Site	SNP	16 : 1509188 - 1509188 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	194	34
TRDMT1	1787	broad.mit.edu	37	10	17210891	17210891	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17210891C>A	ENST00000377799.3	-	3	247	c.200G>T	c.(199-201)aGa>aTa	p.R67I	TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000457442.2_Intron|TRDMT1_ENST00000412821.3_Missense_Mutation_p.R67I|TRDMT1_ENST00000351358.4_Missense_Mutation_p.R67I|TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000377766.5_Intron|TRDMT1_ENST00000358282.7_Intron	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	67					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						AAAAGATAATCTGTCAAACTC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	71	72			NA	NA	10		NA											NA				17210891		2203	4300	6503	SO:0001583	missense			AJ223333	CCDS7114.1	10p15.1	2006-10-23	2006-10-23	2006-10-23	ENSG00000107614	ENSG00000107614	1787	1787	2.1.1.37		2977	protein-coding gene	gene with protein product		602478	DNA (cytosine-5-)-methyltransferase 2	DNMT2	NA	9425235, 9763678, 16424344	Standard	NM_004412	NM_004412	NA	Approved	RNMT1	uc001iop.3	O14717	OTTHUMG00000017745	ENST00000377799.3:c.200G>T	10.37:g.17210891C>A	ENSP00000367030:p.Arg67Ile	NA	B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6	37	CCDS7114.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.12|14.12	2.439433|2.439433	0.43326|0.43326	.|.	.|.	ENSG00000107614|ENSG00000107614	ENST00000313936|ENST00000377799;ENST00000412821;ENST00000351358;ENST00000525762	.|D;D;D;D	.|0.84516	.|-1.86;-1.86;-1.86;-1.86	5.95|5.95	1.06|1.06	0.20224|0.20224	.|.	.|0.530170	.|0.22507	.|N	.|0.059146	T|T	0.76751|0.76751	0.4031|0.4031	L|L	0.41573|0.41573	1.285|1.285	0.09310|0.09310	N|N	0.999994|0.999994	.|P;B;B	.|0.43519	.|0.809;0.23;0.051	.|B;B;B	.|0.41332	.|0.354;0.06;0.033	T|T	0.68337|0.68337	-0.5435|-0.5435	5|10	.|0.62326	.|D	.|0.03	-8.0424|-8.0424	6.9518|6.9518	0.24550|0.24550	0.0:0.465:0.1221:0.4129|0.0:0.465:0.1221:0.4129	.|.	.|67;67;67	.|O14717-3;O14717-2;O14717	.|.;.;TRDMT_HUMAN	H|I	46|67;67;67;49	.|ENSP00000367030:R67I;ENSP00000409354:R67I;ENSP00000324328:R67I;ENSP00000431476:R49I	.|ENSP00000324328:R67I	Q|R	-|-	3|2	2|0	TRDMT1|TRDMT1	17250897|17250897	0.865000|0.865000	0.29922|0.29922	0.979000|0.979000	0.43373|0.43373	0.948000|0.948000	0.59901|0.59901	0.359000|0.359000	0.20233|0.20233	0.281000|0.281000	0.22233|0.22233	0.650000|0.650000	0.86243|0.86243	CAG|AGA	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047024.3		-	ENST00000377799.3	Missense_Mutation	SNP	10 : 17210891 - 17210891 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	135	20
TRPC6	7225	broad.mit.edu	37	11	101342956	101342956	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:101342956A>G	ENST00000532133.1	-	7	1885	c.1883T>C	c.(1882-1884)gTt>gCt	p.V628A	TRPC6_ENST00000344327.3_Missense_Mutation_p.V706A|TRPC6_ENST00000360497.4_Missense_Mutation_p.V651A|TRPC6_ENST00000348423.4_Missense_Mutation_p.V590A			Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	706					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TCCATAAAGAACGTAACCAAT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(166;1315 1927 11094 12848 34731)							NA				0													88	89	88			NA	NA	11		NA											NA				101342956		2203	4298	6501	SO:0001583	missense			AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672	7225	7225		Voltage-gated ion channels / Transient receptor potential cation channels	12338	protein-coding gene	gene with protein product		603652	focal segmental glomerulosclerosis 2	FSGS2	NA	9925922, 16382100, 15879175	Standard	NM_004621	NM_004621	NA	Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000532133.1:c.1883T>C	11.37:g.101342956A>G	ENSP00000435574:p.Val628Ala	NA	Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	37		.	.	.	.	.	.	.	.	.	.	A	14.38	2.518349	0.44763	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	D;D;D;D	0.98633	-5.04;-5.04;-5.04;-5.04	5.81	5.81	0.92471	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98576	0.9524	L	0.47190	1.495	0.80722	D	1	D;D;P	0.89917	1.0;0.999;0.956	D;D;D	0.87578	0.998;0.995;0.927	D	0.99215	1.0877	10	0.33141	T	0.24	-6.7012	16.1667	0.81768	1.0:0.0:0.0:0.0	.	651;590;706	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	A	706;628;590;651	ENSP00000340913:V706A;ENSP00000435574:V628A;ENSP00000343672:V590A;ENSP00000353687:V651A	ENSP00000340913:V706A	V	-	2	0	TRPC6	100848166	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.531000	0.81973	2.210000	0.71456	0.533000	0.62120	GTT	TRPC6-004	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000394771.1		-	ENST00000532133.1	Missense_Mutation	SNP	11 : 101342956 - 101342956 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	405	61
TNFRSF11A	8792	broad.mit.edu	37	18	60025520	60025520	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:60025520C>T	ENST00000586569.1	+	5	505	c.467C>T	c.(466-468)gCa>gTa	p.A156V	TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.A156V	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	156					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CCTTGCCTTGCAGGCTACTTC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	139	142			NA	NA	18		NA											NA				60025520		2203	4300	6503	SO:0001583	missense			AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655	8792	8792		Tumor necrosis factor receptor superfamily, CD molecules	11908	protein-coding gene	gene with protein product		603499	tumor necrosis factor receptor superfamily, member 11a, activator of NFKB, Paget disease of bone 2, loss of heterozygosity, 18, chromosomal region 1	PDB2, LOH18CR1	NA	9367155, 10615125	Standard		NM_001270951	NA	Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.467C>T	18.37:g.60025520C>T	ENSP00000465500:p.Ala156Val	NA		37	CCDS11980.1	.	.	.	.	.	.	.	.	.	.	C	3.359	-0.130838	0.06753	.	.	ENSG00000141655	ENST00000382790;ENST00000269485	T	0.61510	0.1	5.84	-11.6	0.00059	TNFR/CD27/30/40/95 cysteine-rich region (1);	3.105210	0.00797	N	0.001399	T	0.35451	0.0932	N	0.13371	0.34	0.09310	N	1	B;B	0.14438	0.01;0.006	B;B	0.08055	0.002;0.003	T	0.14200	-1.0481	9	.	.	.	6.3304	13.7445	0.62868	0.0772:0.6654:0.0783:0.1791	.	178;156	Q59EP9;Q9Y6Q6	.;TNR11_HUMAN	V	178;156	ENSP00000269485:A156V	.	A	+	2	0	TNFRSF11A	58176500	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-0.609000	0.05635	-2.601000	0.00451	-0.484000	0.04775	GCA	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256186.2		+	ENST00000586569.1	Missense_Mutation	SNP	18 : 60025520 - 60025520 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	658	117
ACOX2	8309	broad.mit.edu	37	3	58512232	58512232	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58512232T>C	ENST00000459701.2	-	10	1520	c.1265A>G	c.(1264-1266)tAc>tGc	p.Y422C	ACOX2_ENST00000302819.5_Missense_Mutation_p.Y436C			Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	436					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CTCACCCTCGTAGGTACAGGA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	62	68			NA	NA	3		NA											NA				58512232		2203	4300	6503	SO:0001583	missense			X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	8309	8309	1.17.99.3		120	protein-coding gene	gene with protein product	trihydroxycoprostanoyl-CoA oxidase, 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase	601641	acyl-Coenzyme A oxidase 2, branched chain		NA	8943006, 9070889	Standard		NM_003500	NA	Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000459701.2:c.1265A>G	3.37:g.58512232T>C	ENSP00000418562:p.Tyr422Cys	NA	A6NF16|B2R8U5	37		.	.	.	.	.	.	.	.	.	.	T	15.31	2.794993	0.50208	.	.	ENSG00000168306	ENST00000459701;ENST00000302819	T;T	0.74737	-0.87;-0.87	4.26	3.08	0.35506	Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.100654	0.43747	D	0.000538	D	0.88905	0.6564	H	0.96633	3.855	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	D	0.89965	0.4089	10	0.87932	D	0	-24.8706	10.3272	0.43801	0.1475:0.0:0.0:0.8524	.	436	Q99424	ACOX2_HUMAN	C	422;436	ENSP00000418562:Y422C;ENSP00000307697:Y436C	ENSP00000307697:Y436C	Y	-	2	0	ACOX2	58487272	1.000000	0.71417	0.718000	0.30602	0.353000	0.29299	5.629000	0.67798	0.782000	0.33613	0.459000	0.35465	TAC	ACOX2-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000353542.2		-	ENST00000459701.2	Missense_Mutation	SNP	3 : 58512232 - 58512232 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	187	37
ACSL3	2181	broad.mit.edu	37	2	223773626	223773626	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:223773626G>A	ENST00000357430.3	+	4	667	c.136G>A	c.(136-138)Gag>Aag	p.E46K	ACSL3_ENST00000392066.3_Missense_Mutation_p.E46K	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	46					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding	p.E46*(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TTTTTTCTCCGAGTCAAGACA	0.299		NA	T	ETV1	prostate									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		2	2q36	2181	acyl-CoA synthetase long-chain family member 3		E	2	Substitution - Nonsense(2)	lung(2)											78	84	82			NA	NA	2		NA											NA				223773626		2202	4298	6500	SO:0001583	missense			D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983	2181	2181		Acyl-CoA synthetase family	3570	protein-coding gene	gene with protein product		602371	fatty-acid-Coenzyme A ligase, long-chain 3	FACL3	NA		Standard	NM_004457	NM_004457	NA	Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.136G>A	2.37:g.223773626G>A	ENSP00000350012:p.Glu46Lys	NA	Q60I92|Q8IUM9	37	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611047	0.46631	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000535678;ENST00000413316	T;T	0.33216	1.42;1.42	5.22	5.22	0.72569	.	0.319425	0.34362	N	0.004030	T	0.17365	0.0417	N	0.05078	-0.115	0.41100	D	0.985667	B	0.24483	0.104	B	0.15870	0.014	T	0.09058	-1.0692	10	0.19590	T	0.45	-18.1443	18.9699	0.92711	0.0:0.0:1.0:0.0	.	46	O95573	ACSL3_HUMAN	K	46	ENSP00000350012:E46K;ENSP00000375918:E46K	ENSP00000350012:E46K	E	+	1	0	ACSL3	223481870	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.483000	0.60264	2.703000	0.92315	0.655000	0.94253	GAG	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256862.2		+	ENST00000357430.3	Missense_Mutation	SNP	2 : 223773626 - 223773626 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	637	102
C12orf68	0	broad.mit.edu	37	12	48577906	48577906	+	Translation_Start_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48577906A>G	ENST00000316554.3	+	1	541	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_001013635.3	NP_001013657.3	Q52MB2	CL068_HUMAN		1						cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						CTGCCACTCAATGGAGGACGG	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	28	26			NA	NA	12		NA											NA				48577906		2196	4298	6494	SO:0001582	initiator_codon_variant											NA	NA			NA							NA					NA						ENST00000316554.3:c.1A>G	12.37:g.48577906A>G	ENSP00000320849:p.Met1Val	NA	Q96MK5|Q96N39	37	CCDS31785.1	.	.	.	.	.	.	.	.	.	.	A	7.941	0.742706	0.15642	.	.	ENSG00000177875	ENST00000316554	T	0.51071	0.72	5.17	4.03	0.46877	.	0.086594	0.50627	N	0.000107	T	0.34716	0.0907	.	.	.	0.24656	N	0.993495	B	0.24576	0.106	B	0.17722	0.019	T	0.32929	-0.9888	9	0.87932	D	0	-20.729	7.3555	0.26717	0.9029:0.0:0.0971:0.0	.	1	Q52MB2	CL068_HUMAN	V	1	ENSP00000320849:M1V	ENSP00000320849:M1V	M	+	1	0	C12orf68	46864173	0.998000	0.40836	0.943000	0.38184	0.997000	0.91878	2.706000	0.47135	0.991000	0.38814	0.491000	0.48974	ATG	C12orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406514.1	Missense_Mutation	+	ENST00000316554.3	Start_Codon_SNP	SNP	12 : 48577906 - 48577906 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	53
ANKRD11	29123	broad.mit.edu	37	16	89341252	89341252	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89341252G>A	ENST00000301030.4	-	11	8143	c.7683C>T	c.(7681-7683)tcC>tcT	p.S2561S	ANKRD11_ENST00000378330.2_Silent_p.S2561S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2561						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGTAGACCTCGGAGTCCAGCA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	58	58			NA	NA	16		NA											NA				89341252		2198	4300	6498	SO:0001819	synonymous_variant			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522	29123	29123		Ankyrin repeat domain containing	21316	protein-coding gene	gene with protein product		611192			NA	11483580	Standard	NM_013275	NM_001256182	NA	Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.7683C>T	16.37:g.89341252G>A		NA	Q6NTG1|Q6QMF8	37	CCDS32513.1																																																																																			ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000430462.3		-	ENST00000301030.4	Silent	SNP	16 : 89341252 - 89341252 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	520	132
GP5	2814	broad.mit.edu	37	3	194117894	194117894	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:194117894T>C	ENST00000401815.1	-	1	1189	c.1118A>G	c.(1117-1119)aAc>aGc	p.N373S	GP5_ENST00000323007.3_Missense_Mutation_p.N373S			P40197	GPV_HUMAN	glycoprotein V (platelet)	373					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GCGCAGCCTGTTGCGGCGCAG	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													6	8	7			NA	NA	3		NA											NA				194117894		2082	4117	6199	SO:0001583	missense			L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732	2814	2814		CD molecules	4443	protein-coding gene	gene with protein product		173511			NA	7690959	Standard	NM_004488	NM_004488	NA	Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.1118A>G	3.37:g.194117894T>C	ENSP00000383931:p.Asn373Ser	NA		37	CCDS3307.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.145584	0.37923	.	.	ENSG00000178732	ENST00000401815;ENST00000323007	T;T	0.72615	-0.67;-0.67	4.19	1.64	0.23874	.	0.148584	0.31358	N	0.007783	T	0.76011	0.3928	M	0.92738	3.34	0.20873	N	0.999839	P	0.48834	0.916	P	0.45681	0.49	T	0.69548	-0.5116	10	0.56958	D	0.05	.	7.2592	0.26193	0.0:0.0764:0.2703:0.6533	.	373	P40197	GPV_HUMAN	S	373	ENSP00000383931:N373S;ENSP00000319286:N373S	ENSP00000319286:N373S	N	-	2	0	GP5	195599183	0.997000	0.39634	0.183000	0.23137	0.335000	0.28730	1.930000	0.40124	0.204000	0.20548	-0.478000	0.04885	AAC	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317710.1		-	ENST00000401815.1	Missense_Mutation	SNP	3 : 194117894 - 194117894 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	75	12
PLXNA1	5361	broad.mit.edu	37	3	126741028	126741028	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126741028G>A	ENST00000393409.2	+	21	4139	c.4139G>A	c.(4138-4140)aGc>aAc	p.S1380N	PLXNA1_ENST00000251772.4_Missense_Mutation_p.S1357N	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1380					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GCACAGCGCAGCTTCTCCATG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	55	58			NA	NA	3		NA											NA				126741028		2203	4300	6503	SO:0001583	missense			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554	5361	5361		Plexins	9099	protein-coding gene	gene with protein product		601055		PLXN1	NA	8570614	Standard	NM_032242	NM_032242	NA	Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.4139G>A	3.37:g.126741028G>A	ENSP00000377061:p.Ser1380Asn	NA		37	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641026	0.67244	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.12039	2.72;2.72	3.36	3.36	0.38483	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.165437	0.42053	D	0.000771	T	0.28830	0.0715	L	0.60067	1.865	0.47778	D	0.999519	P	0.46578	0.88	P	0.58660	0.843	T	0.02797	-1.1109	10	0.33940	T	0.23	.	16.0072	0.80372	0.0:0.0:1.0:0.0	.	1380	Q9UIW2	PLXA1_HUMAN	N	1380;1357	ENSP00000377061:S1380N;ENSP00000251772:S1357N	ENSP00000251772:S1357N	S	+	2	0	PLXNA1	128223718	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	7.254000	0.78329	2.177000	0.69029	0.467000	0.42956	AGC	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356451.1		+	ENST00000393409.2	Missense_Mutation	SNP	3 : 126741028 - 126741028 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	166	28
FAT4	79633	broad.mit.edu	37	4	126371043	126371043	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126371043C>T	ENST00000394329.3	+	9	8885	c.8872C>T	c.(8872-8874)Cga>Tga	p.R2958*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.R1256*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2958	Cadherin 28.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATCTTCAGATCGAGGTAAACC	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	70	70			NA	NA	4		NA											NA				126371043		2203	4299	6502	SO:0001587	stop_gained			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159	79633	79633		Cadherins / Cadherin-related	23109	protein-coding gene	gene with protein product	cadherin-related family member 11	612411	FAT tumor suppressor homolog 4 (Drosophila)		NA	15003449	Standard	NM_024582	NM_024582	NA	Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.8872C>T	4.37:g.126371043C>T	ENSP00000377862:p.Arg2958*	NA	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	50	16.322416	0.99860	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	.	.	.	5.34	4.49	0.54785	.	0.000000	0.30311	U	0.009916	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	13.4453	0.61138	0.2856:0.7144:0.0:0.0	.	.	.	.	X	2958;1256	.	ENSP00000335169:R1256X	R	+	1	2	FAT4	126590493	0.993000	0.37304	0.947000	0.38551	0.929000	0.56500	0.941000	0.29005	1.377000	0.46286	0.655000	0.94253	CGA	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256765.2		+	ENST00000394329.3	Nonsense_Mutation	SNP	4 : 126371043 - 126371043 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	64
AKAP12	9590	broad.mit.edu	37	6	151672017	151672017	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151672017G>A	ENST00000253332.1	+	3	2680	c.2491G>A	c.(2491-2493)Gca>Aca	p.A831T	AKAP12_ENST00000359755.5_Missense_Mutation_p.A726T|AKAP12_ENST00000402676.2_Missense_Mutation_p.A831T|AKAP12_ENST00000354675.6_Missense_Mutation_p.A733T			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	831					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	p.A831S(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TGTTGAAGACGCAGGGCCAAC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(141;1616 1805 10049 24534 51979)							NA				1	Substitution - Missense(1)	lung(1)											86	97	93			NA	NA	6		NA											NA				151672017		2203	4300	6503	SO:0001583	missense			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016	9590	9590		A-kinase anchor proteins	370	protein-coding gene	gene with protein product	gravin, Src-Suppressed C Kinase Substrate	604698	A kinase (PRKA) anchor protein (gravin) 12		NA	9000000	Standard		NM_144497	NA	Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2491G>A	6.37:g.151672017G>A	ENSP00000253332:p.Ala831Thr	NA	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	37	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	8.176	0.792683	0.16327	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.07908	3.15;3.15;3.15;3.15	4.9	-9.81	0.00487	.	1.928830	0.02486	N	0.089032	T	0.00936	0.0031	N	0.15975	0.35	0.09310	N	1	B;B;B	0.23891	0.093;0.093;0.056	B;B;B	0.10450	0.005;0.005;0.002	T	0.28902	-1.0029	10	0.12103	T	0.63	.	8.9057	0.35521	0.1667:0.0773:0.5969:0.1591	.	726;733;831	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	T	831;831;733;726	ENSP00000384537:A831T;ENSP00000253332:A831T;ENSP00000346702:A733T;ENSP00000352794:A726T	ENSP00000253332:A831T	A	+	1	0	AKAP12	151713710	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.241000	0.08940	-2.735000	0.00382	-0.895000	0.02911	GCA	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042712.1		+	ENST00000253332.1	Missense_Mutation	SNP	6 : 151672017 - 151672017 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1050	173
DGKG	1608	broad.mit.edu	37	3	185986607	185986607	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185986607C>T	ENST00000265022.3	-	12	1638	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M	DGKG_ENST00000382164.4_Intron|DGKG_ENST00000544847.1_Intron|DGKG_ENST00000344484.4_Missense_Mutation_p.V367M	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	367					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CGGCACCACACGCAGTGCCGC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	56	60			NA	NA	3		NA											NA				185986607		2203	4300	6503	SO:0001583	missense			AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	1608	1608	2.7.1.107	EF-hand domain containing	2853	protein-coding gene	gene with protein product		601854	diacylglycerol kinase, gamma (90kD)	DAGK3	NA	8034597	Standard		NM_001080744	NA	Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1099G>A	3.37:g.185986607C>T	ENSP00000265022:p.Val367Met	NA	B2RAH4|Q2M1H4|Q5FWG1	37	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218901	0.79464	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000437018	D;D;D	0.84730	-1.89;-1.89;-1.89	5.16	4.28	0.50868	Protein kinase C-like, phorbol ester/diacylglycerol binding (3);	0.000000	0.64402	D	0.000001	D	0.90338	0.6977	L	0.58810	1.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.978	D	0.90842	0.4724	10	0.56958	D	0.05	.	15.1375	0.72579	0.0:0.8579:0.1421:0.0	.	367;367	P49619-2;P49619	.;DGKG_HUMAN	M	367;367;118	ENSP00000265022:V367M;ENSP00000339777:V367M;ENSP00000395526:V118M	ENSP00000265022:V367M	V	-	1	0	DGKG	187469301	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.755000	0.68750	1.319000	0.45190	0.563000	0.77884	GTG	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344800.3		-	ENST00000265022.3	Missense_Mutation	SNP	3 : 185986607 - 185986607 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	233	39
VSTM4	196740	broad.mit.edu	37	10	50256539	50256539	+	Silent	SNP	G	G	A	rs17854125	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50256539G>A	ENST00000332853.4	-	6	782	c.759C>T	c.(757-759)ccC>ccT	p.P253P		NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	NA						integral to membrane|plasma membrane		p.P253P(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						CAGGGACTGCGGGAGGAATGT	0.532		NA											A	0	0	NA	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0	0	EXOME	NA	NA	7e-04	SNP								NA				1	Substitution - coding silent(1)	lung(1)						A		2,4404	826.0+/-416.6	0,2,2201	106	93	97		759	-0.3	0.9	10	dbSNP_123	97	0,8600		0,0,4300	no	coding-synonymous	VSTM4	NM_001031746.3		0,2,6501	AA,AG,GG	NA	0.0,0.0454,0.0154		253/321	50256539	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633	196740	196740		Immunoglobulin superfamily / V-set domain containing	26470	protein-coding gene	gene with protein product			chromosome 10 open reading frame 72	C10orf72	NA		Standard	NM_144984	XR_246075	NA	Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.759C>T	10.37:g.50256539G>A		NA	Q96MX7	37	CCDS31198.1																																																																																			VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047966.2		-	ENST00000332853.4	Silent	SNP	10 : 50256539 - 50256539 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	429	60
INO80	54617	broad.mit.edu	37	15	41372020	41372020	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41372020C>T	ENST00000361937.3	-	9	1434	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	INO80_ENST00000401393.3_Missense_Mutation_p.R337H			Q9ULG1	INO80_HUMAN	INO80 complex subunit	337	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|DBINO.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GGTGAGGCGGCGGGCACGAGG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	160	158			NA	NA	15		NA											NA				41372020		2203	4300	6503	SO:0001583	missense			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	54617	54617	3.6.1.3	INO80 complex subunits	26956	protein-coding gene	gene with protein product	INO80 complex subunit A	610169	INO80 complex homolog 1 (S. cerevisiae), INO80 homolog (S. cerevisiae)	INOC1	NA	16298340, 16230350, 20237820	Standard	NM_017553	NM_017553	NA	Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.1010G>A	15.37:g.41372020C>T	ENSP00000355205:p.Arg337His	NA	A6H8X4|Q9NTG6	37	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.358374	0.41801	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.92647	-3.08;-3.08	4.91	4.91	0.64330	DNA binding domain, INO80 (1);	0.000000	0.85682	D	0.000000	D	0.95658	0.8588	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.96014	0.9004	10	0.87932	D	0	.	16.4549	0.84009	0.0:1.0:0.0:0.0	.	337	Q9ULG1	INO80_HUMAN	H	337	ENSP00000355205:R337H;ENSP00000384686:R337H	ENSP00000355205:R337H	R	-	2	0	INO80	39159312	1.000000	0.71417	0.984000	0.44739	0.056000	0.15407	7.430000	0.80321	2.566000	0.86566	0.467000	0.42956	CGC	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252527.2		-	ENST00000361937.3	Missense_Mutation	SNP	15 : 41372020 - 41372020 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	993	209
PLXNA4	91584	broad.mit.edu	37	7	132193050	132193050	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:132193050G>A	ENST00000359827.3	-	2	1365	c.403C>T	c.(403-405)Caa>Taa	p.Q135*	PLXNA4_ENST00000321063.4_Nonsense_Mutation_p.Q135*|PLXNA4_ENST00000423507.2_Nonsense_Mutation_p.Q135*|PLXNA4_ENST00000378539.5_Nonsense_Mutation_p.Q135*			Q9HCM2	PLXA4_HUMAN	plexin A4	135	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CAGATGCCTTGGTACAGGCTC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	60	62			NA	NA	7		NA											NA				132193050		2203	4300	6503	SO:0001587	stop_gained			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866	91584	91584		Plexins	9102	protein-coding gene	gene with protein product		604280	plexin A4, A, plexin A4, B	PLXNA4A, PLXNA4B	NA		Standard	NM_181775	NM_181775	NA	Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.403C>T	7.37:g.132193050G>A	ENSP00000352882:p.Gln135*	NA	Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	38	6.876018	0.97904	.	.	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	.	.	.	5.39	5.39	0.77823	.	0.000000	0.64402	U	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.1535	0.93499	0.0:0.0:1.0:0.0	.	.	.	.	X	135	.	ENSP00000323194:Q135X	Q	-	1	0	PLXNA4	131843590	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.537000	0.85549	0.462000	0.41574	CAA	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000338422.2		-	ENST00000359827.3	Nonsense_Mutation	SNP	7 : 132193050 - 132193050 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	290	42
ITGAD	3681	broad.mit.edu	37	16	31422117	31422117	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31422117G>A	ENST00000389202.2	+	12	1323	c.1274G>A	c.(1273-1275)cGc>cAc	p.R425H		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	425					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGGCCCCCCGCTACCAGCAT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	39	39			NA	NA	16		NA											NA				31422117		2197	4300	6497	SO:0001583	missense			U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886	3681	3681		CD molecules, Integrins	6146	protein-coding gene	gene with protein product		602453			NA	8666289, 9598326	Standard	NM_005353	NM_005353	NA	Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1274G>A	16.37:g.31422117G>A	ENSP00000373854:p.Arg425His	NA	Q15575|Q15576	37	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	g	15.19	2.759141	0.49468	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.41065	1.01	4.4	2.15	0.27550	.	.	.	.	.	T	0.72606	0.3481	H	0.96691	3.865	0.22656	N	0.998881	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.62397	-0.6863	9	0.87932	D	0	.	8.4812	0.33043	0.2178:0.0:0.7822:0.0	.	441;425	Q59H14;Q13349	.;ITAD_HUMAN	H	441;425	ENSP00000373854:R425H	ENSP00000373854:R425H	R	+	2	0	ITGAD	31329618	0.835000	0.29415	0.993000	0.49108	0.220000	0.24768	3.197000	0.51028	0.187000	0.20147	0.197000	0.17608	CGC	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432836.1		+	ENST00000389202.2	Missense_Mutation	SNP	16 : 31422117 - 31422117 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	428	75
FMNL2	114793	broad.mit.edu	37	2	153484903	153484903	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:153484903C>T	ENST00000475377.2	+	5	581	c.381C>T	c.(379-381)taC>taT	p.Y127Y	FMNL2_ENST00000288670.9_Silent_p.Y752Y			Q96PY5	FMNL2_HUMAN	formin-like 2	752	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						TTCGGCTCTACGAGCGGGAAA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,3804		0,0,1902	124	123	123		2256	-6.8	0.6	2		123	1,8253		0,1,4126	no	coding-synonymous	FMNL2	NM_052905.3		0,1,6028	TT,TC,CC	NA	0.0121,0.0,0.0083		752/1093	153484903	1,12057	1902	4127	6029	SO:0001819	synonymous_variant			AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827	114793	114793			18267	protein-coding gene	gene with protein product			formin homology 2 domain containing 2	FHOD2	NA		Standard	NM_052905	XM_005246263	NA	Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000475377.2:c.381C>T	2.37:g.153484903C>T		NA	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	37																																																																																				FMNL2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000333583.3		+	ENST00000475377.2	Silent	SNP	2 : 153484903 - 153484903 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	536	81
INPPL1	3636	broad.mit.edu	37	11	71948167	71948167	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71948167G>T	ENST00000298229.2	+	26	3083		c.e26-1		INPPL1_ENST00000538751.1_Splice_Site|INPPL1_ENST00000541756.1_Splice_Site	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	NA					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TCCACACCCAGGTTGAAGCCA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	64	61			NA	NA	11		NA											NA				71948167		2200	4293	6493	SO:0001630	splice_region_variant			Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458	3636	3636		Sterile alpha motif (SAM) domain containing, SH2 domain containing	6080	protein-coding gene	gene with protein product	51C protein	600829			NA	8530088	Standard	NM_001567	NM_001567	NA	Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.2880-1G>T	11.37:g.71948167G>T		NA	B2RTX5|Q13577|Q13578	37	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.429636	0.43122	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.622	0.68594	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	INPPL1	71625815	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	6.309000	0.72825	2.513000	0.84729	0.563000	0.77884	.	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396789.1	Intron	+	ENST00000298229.2	Splice_Site	SNP	11 : 71948167 - 71948167 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	616	116
FN1	2335	broad.mit.edu	37	2	216257885	216257885	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216257885C>T	ENST00000354785.4	-	25	4207	c.3838G>A	c.(3838-3840)Gat>Aat	p.D1280N	FN1_ENST00000356005.4_Intron|FN1_ENST00000421182.1_Intron|FN1_ENST00000446046.1_Intron|FN1_ENST00000443816.1_Intron|FN1_ENST00000357867.4_Intron|FN1_ENST00000346544.3_Intron|FN1_ENST00000323926.6_Missense_Mutation_p.D1280N|FN1_ENST00000336916.4_Intron|FN1_ENST00000357009.2_Intron|FN1_ENST00000345488.5_Intron|FN1_ENST00000432072.2_Missense_Mutation_p.D1280N|FN1_ENST00000359671.1_Intron			P02751	FINC_HUMAN	fibronectin 1	1280	Cell-attachment.|Fibronectin type-III 8.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	p.D1280N(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGCTTGAATCGGTTATATCA	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)	lung(1)											80	79	79			NA	NA	2		NA											NA				216257885		1868	4096	5964	SO:0001583	missense				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414	2335	2335		Fibronectin type III domain containing, Endogenous ligands	3778	protein-coding gene	gene with protein product	migration-stimulating factor, cold-insoluble globulin	135600			NA	2992939, 3003095	Standard	NM_212476	NM_054034	NA	Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000354785.4:c.3838G>A	2.37:g.216257885C>T	ENSP00000346839:p.Asp1280Asn	NA	O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	37	CCDS42814.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691151	0.88735	.	.	ENSG00000115414	ENST00000323926;ENST00000354785;ENST00000265313;ENST00000432072	T;T;T	0.57107	0.42;0.42;0.42	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000001	T	0.71367	0.3331	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;0.997;0.997	D;D;D;D	0.91635	0.974;0.999;0.992;0.97	T	0.65438	-0.6168	10	0.33141	T	0.24	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	1280;1280;1280;1280	P02751-13;P02751-7;E7ERA1;P02751-15	.;.;.;.	N	1280	ENSP00000323534:D1280N;ENSP00000346839:D1280N;ENSP00000399538:D1280N	ENSP00000265313:D1280N	D	-	1	0	FN1	215966130	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.384000	0.79751	2.861000	0.98227	0.655000	0.94253	GAT	FN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256667.2		-	ENST00000354785.4	Missense_Mutation	SNP	2 : 216257885 - 216257885 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	388	50
OR10G2	26534	broad.mit.edu	37	14	22102553	22102553	+	Missense_Mutation	SNP	A	A	C	rs144770758		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:22102553A>C	ENST00000542433.1	-	1	543	c.446T>G	c.(445-447)cTt>cGt	p.L149R		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TCCAGCCACAAGGACTGTGCA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	40	38			NA	NA	14		NA											NA				22102553		2202	4298	6500	SO:0001583	missense				CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582	26534	26534		GPCR / Class A : Olfactory receptors	8170	protein-coding gene	gene with protein product					NA	8188290	Standard		NM_001005466	NA	Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.446T>G	14.37:g.22102553A>C	ENSP00000445383:p.Leu149Arg	NA	B2RPD0	37	CCDS32047.1	.	.	.	.	.	.	.	.	.	.	A	14.97	2.693504	0.48202	.	.	ENSG00000255582	ENST00000542433	T	0.44881	0.91	3.64	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38663	N	0.001617	T	0.70962	0.3284	H	0.95260	3.645	0.28420	N	0.917786	D	0.71674	0.998	D	0.72982	0.979	T	0.69397	-0.5156	10	0.87932	D	0	-7.5525	10.2529	0.43379	1.0:0.0:0.0:0.0	.	149	Q8NGC3	O10G2_HUMAN	R	149	ENSP00000445383:L149R	ENSP00000445383:L149R	L	-	2	0	OR10G2	21172393	0.325000	0.24660	0.998000	0.56505	0.961000	0.63080	3.861000	0.56002	1.525000	0.49052	0.374000	0.22700	CTT	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401525.1		-	ENST00000542433.1	Missense_Mutation	SNP	14 : 22102553 - 22102553 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	205	36
EHHADH	1962	broad.mit.edu	37	3	184971732	184971732	+	Translation_Start_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184971732G>A	ENST00000456310.1	-	0	104				EHHADH_ENST00000440662.1_Intron|EHHADH_ENST00000231887.3_Intron|EHHADH_ENST00000475987.1_Intron			Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	NA						peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	GACCGAGCCCGTTACCTGATC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	40	39			NA	NA	3		NA											NA				184971732		2203	4299	6502					L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	1962	1962	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase	ECHD	NA	8188243	Standard		NM_001966	NA	Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000456310.1:c.-333C>T	3.37:g.184971732G>A		NA	A8K6Y3|D3DNU0|Q58EZ5	37	CCDS54694.1																																																																																			EHHADH-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345327.1		-	ENST00000456310.1	De_novo_Start_OutOfFrame	SNP	3 : 184971732 - 184971732 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	243	55
TOM1L1	10040	broad.mit.edu	37	17	53027406	53027406	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:53027406C>T	ENST00000575882.1	+	14	1642	c.1289C>T	c.(1288-1290)gCg>gTg	p.A430V	TOM1L1_ENST00000445275.2_Splice_Site_p.A419V|TOM1L1_ENST00000572158.1_Splice_Site_p.A423V|TOM1L1_ENST00000540336.1_Splice_Site_p.A318V|TOM1L1_ENST00000348161.4_Splice_Site_p.A353V|TOM1L1_ENST00000536554.1_Splice_Site_p.A353V	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	430					intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						TTGCCCAAAGCGATGACAAAA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	88	89			NA	NA	17		NA											NA				53027406		2203	4300	6503	SO:0001630	splice_region_variant			AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198	10040	10040			11983	protein-coding gene	gene with protein product		604701	target of myb1 (chicken) homolog-like 1		NA	10329004, 15611048, 17977829	Standard	NM_005486	NM_005486	NA	Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.1289-1C>T	17.37:g.53027406C>T		NA	Q53G06	37	CCDS11582.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631705	0.46944	.	.	ENSG00000141198	ENST00000445275;ENST00000540336;ENST00000348161;ENST00000536554	T;T;T	0.23754	1.89;1.89;1.89	5.51	1.23	0.21249	.	0.658250	0.13744	N	0.365740	T	0.12305	0.0299	N	0.16307	0.4	0.09310	N	1	B;B;B;B	0.19445	0.007;0.004;0.036;0.004	B;B;B;B	0.09377	0.003;0.003;0.004;0.003	T	0.31138	-0.9954	9	.	.	.	.	5.4075	0.16330	0.0:0.593:0.158:0.249	.	318;423;353;430	B4DUW5;B4E1N0;B7Z9E2;O75674	.;.;.;TM1L1_HUMAN	V	430;318;353;353	ENSP00000441242:A318V;ENSP00000343901:A353V;ENSP00000443099:A353V	.	A	+	2	0	TOM1L1	50382405	0.002000	0.14202	0.032000	0.17829	0.791000	0.44710	-0.173000	0.09854	0.121000	0.18284	-0.311000	0.09066	GCG	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000439029.2	Missense_Mutation	+	ENST00000575882.1	Splice_Site	SNP	17 : 53027406 - 53027406 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	390	59
C1orf56	54964	broad.mit.edu	37	1	151021076	151021076	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151021076A>G	ENST00000368926.5	+	1	861	c.753A>G	c.(751-753)caA>caG	p.Q251Q	C1orf56_ENST00000465135.1_3'UTR	NM_017860.3	NP_060330.2	Q9BUN1	CA056_HUMAN	chromosome 1 open reading frame 56	251						extracellular region		p.Q251Q(1)		endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCACCTATCAACAATGTCCCT	0.617		NA									OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(146;891 3320 6873)							NA				1	Substitution - coding silent(1)	kidney(1)											125	131	129			NA	NA	1		NA											NA				151021076		2203	4300	6503	SO:0001819	synonymous_variant			BC002469	CCDS980.1	1q21.2	2013-09-20			ENSG00000143443	ENSG00000143443	54964	54964			26045	protein-coding gene	gene with protein product	methylated in normal thymocytes				NA	12975309, 22133874	Standard	NM_017860	NM_017860	NA	Approved	FLJ20519, MENT	uc001ewn.3	Q9BUN1	OTTHUMG00000035159	ENST00000368926.5:c.753A>G	1.37:g.151021076A>G		1737	B2RDU8|Q9NWZ4	37	CCDS980.1																																																																																			C1orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085101.1		+	ENST00000368926.5	Silent	SNP	1 : 151021076 - 151021076 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1360	352
C6orf15	29113	broad.mit.edu	37	6	31079823	31079823	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31079823G>A	ENST00000259870.3	-	2	316	c.313C>T	c.(313-315)Cct>Tct	p.P105S		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	105										endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						TCCATGGCAGGCAGCCCCCAC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	37	37			NA	NA	6		NA											NA				31079823		2202	4298	6500	SO:0001583	missense			AB031481	CCDS4693.1	6p21	2011-12-12			ENSG00000204542	ENSG00000204542	29113	29113			13927	protein-coding gene	gene with protein product		611401			NA		Standard	NM_014070	NM_014070	NA	Approved	STG	uc003nsk.1	Q6UXA7	OTTHUMG00000031111	ENST00000259870.3:c.313C>T	6.37:g.31079823G>A	ENSP00000259870:p.Pro105Ser	NA	B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	37	CCDS4693.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237102	0.39498	.	.	ENSG00000204542	ENST00000259870	T	0.07567	3.18	4.76	2.97	0.34412	.	0.437572	0.20015	N	0.101037	T	0.03178	0.0093	M	0.62723	1.935	0.09310	N	1	P	0.42203	0.773	B	0.35312	0.2	T	0.30995	-0.9959	10	0.59425	D	0.04	-1.3788	6.6477	0.22945	0.2097:0.0:0.7903:0.0	.	105	Q6UXA7	CF015_HUMAN	S	105	ENSP00000259870:P105S	ENSP00000259870:P105S	P	-	1	0	C6orf15	31187802	0.135000	0.22499	0.075000	0.20258	0.005000	0.04900	1.678000	0.37586	1.354000	0.45846	-0.148000	0.13756	CCT	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076184.2		-	ENST00000259870.3	Missense_Mutation	SNP	6 : 31079823 - 31079823 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	396	16
MYH11	4629	broad.mit.edu	37	16	15841795	15841795	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15841795T>G	ENST00000452625.2	-	19	2294	c.2207A>C	c.(2206-2208)gAg>gCg	p.E736A	MYH11_ENST00000576790.2_Missense_Mutation_p.E729A|MYH11_ENST00000396324.3_Missense_Mutation_p.E736A|MYH11_ENST00000300036.5_Missense_Mutation_p.E729A	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	729	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGCCAGGATCTCGTAGCTTGA	0.607		NA	T	CBFB	AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		16	16p13.13-p13.12	4629	myosin, heavy polypeptide 11, smooth muscle		L	0													82	75	77			NA	NA	16		NA											NA				15841795		2197	4300	6497	SO:0001583	missense			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392	4629	4629		Myosins / Myosin superfamily : Class II	7569	protein-coding gene	gene with protein product		160745	myosin, heavy polypeptide 11, smooth muscle		NA	7684189	Standard	NM_001040113	NM_001040113	NA	Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000452625.2:c.2207A>C	16.37:g.15841795T>G	ENSP00000407821:p.Glu736Ala	NA	O00396|O94944|P78422	37	CCDS45424.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.634848	0.87760	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	4.82	4.82	0.62117	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.90724	0.7089	L	0.45698	1.435	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.91576	0.5275	10	0.72032	D	0.01	.	13.5925	0.61967	0.0:0.0:0.0:1.0	.	736;729;736;729;736	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	A	729;729;736;736;736	ENSP00000300036:E729A;ENSP00000345136:E729A;ENSP00000379616:E736A;ENSP00000407821:E736A	ENSP00000300036:E729A	E	-	2	0	MYH11	15749296	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.024000	0.88770	1.806000	0.52798	0.459000	0.35465	GAG	MYH11-013	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000436647.2		-	ENST00000452625.2	Missense_Mutation	SNP	16 : 15841795 - 15841795 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	445	77
VAC14	55697	broad.mit.edu	37	16	70818699	70818699	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70818699G>A	ENST00000261776.5	-	4	726	c.466C>T	c.(466-468)Ctc>Ttc	p.L156F		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	156					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CGGTCTAGGAGCTCAGATCCG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	126	123			NA	NA	16		NA											NA				70818699		2198	4300	6498	SO:0001583	missense			AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043	55697	55697			25507	protein-coding gene	gene with protein product		604632	Tax1 (human T-cell leukemia virus type I) binding protein 2	TAX1BP2	NA	15542851, 12719380	Standard	NM_018052	NM_018052	NA	Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.466C>T	16.37:g.70818699G>A	ENSP00000261776:p.Leu156Phe	NA	B3KPJ5|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	37	CCDS10896.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540889	0.85917	.	.	ENSG00000103043	ENST00000261776	D	0.97665	-4.48	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.97848	0.9293	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97880	1.0291	10	0.59425	D	0.04	-28.1775	12.4816	0.55847	0.0762:0.0:0.9237:0.0	.	156	Q08AM6	VAC14_HUMAN	F	156	ENSP00000261776:L156F	ENSP00000261776:L156F	L	-	1	0	VAC14	69376200	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.850000	0.69473	2.531000	0.85337	0.563000	0.77884	CTC	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268973.3		-	ENST00000261776.5	Missense_Mutation	SNP	16 : 70818699 - 70818699 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	914	169
FOXC2	2303	broad.mit.edu	37	16	86601141	86601141	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:86601141C>A	ENST00000320354.4	+	1	285	c.200C>A	c.(199-201)cCt>cAt	p.P67H	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	67					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|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 factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						CCCGCGGCGCCTAAGGACCTG	0.652		NA							Late-onset Hereditary Lymphedema					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	57	56			NA	NA	16		NA											NA				86601141		2198	4300	6498	SO:0001583	missense	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692	2303	2303		Forkhead boxes	3801	protein-coding gene	gene with protein product		602402		FKHL14	NA	9169153, 8674414	Standard	NM_005251	NM_005251	NA	Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.200C>A	16.37:g.86601141C>A	ENSP00000326371:p.Pro67His	NA	C6KMR9|Q14DA6	37	CCDS10958.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500724	0.64298	.	.	ENSG00000176692	ENST00000320354	D	0.96011	-3.88	4.67	4.67	0.58626	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.388043	0.21425	U	0.074752	D	0.96623	0.8898	M	0.62723	1.935	0.43061	D	0.994685	D	0.69078	0.997	P	0.62014	0.897	D	0.96193	0.9139	10	0.38643	T	0.18	.	16.2107	0.82151	0.0:1.0:0.0:0.0	.	67	Q99958	FOXC2_HUMAN	H	67	ENSP00000326371:P67H	ENSP00000326371:P67H	P	+	2	0	FOXC2	85158642	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.442000	0.80503	2.145000	0.66743	0.650000	0.86243	CCT	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269104.2		+	ENST00000320354.4	Missense_Mutation	SNP	16 : 86601141 - 86601141 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	506	141
WDR72	256764	broad.mit.edu	37	15	53908400	53908400	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:53908400A>G	ENST00000559418.1	-	14	2066	c.2033T>C	c.(2032-2034)tTg>tCg	p.L678S	WDR72_ENST00000557913.1_Missense_Mutation_p.L665S|WDR72_ENST00000360509.5_Missense_Mutation_p.L668S|WDR72_ENST00000396328.1_Missense_Mutation_p.L668S			Q3MJ13	WDR72_HUMAN	WD repeat domain 72	668										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CTTCACAGGCAAGACATTAAA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	57	57			NA	NA	15		NA											NA				53908400		2193	4292	6485	SO:0001583	missense			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415	256764	256764		WD repeat domain containing	26790	protein-coding gene	gene with protein product		613214			NA		Standard	NM_182758	NM_182758	NA	Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000559418.1:c.2033T>C	15.37:g.53908400A>G	ENSP00000452765:p.Leu678Ser	NA	Q7Z3I3|Q8N8X2	37		.	.	.	.	.	.	.	.	.	.	A	14.65	2.598868	0.46318	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.39229	1.09;1.09	5.23	5.23	0.72850	.	0.221234	0.31519	N	0.007503	T	0.42314	0.1197	L	0.32530	0.975	0.35638	D	0.810786	P	0.46706	0.883	P	0.49752	0.621	T	0.51379	-0.8713	10	0.33141	T	0.24	.	14.2825	0.66221	1.0:0.0:0.0:0.0	.	668	Q3MJ13	WDR72_HUMAN	S	668	ENSP00000379619:L668S;ENSP00000353699:L668S	ENSP00000353699:L668S	L	-	2	0	WDR72	51695692	0.969000	0.33509	0.979000	0.43373	0.571000	0.35966	2.695000	0.47043	1.972000	0.57404	0.260000	0.18958	TTG	WDR72-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000418739.1		-	ENST00000559418.1	Missense_Mutation	SNP	15 : 53908400 - 53908400 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	291	48
OLFML2A	169611	broad.mit.edu	37	9	127549269	127549269	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127549269G>T	ENST00000373580.3	+	2	106	c.106G>T	c.(106-108)Gac>Tac	p.D36Y		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	36										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						TGGGGACCTGGACCAGGTGAG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	85	83			NA	NA	9		NA											NA				127549269		2019	4177	6196	SO:0001583	missense			AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585	169611	169611			27270	protein-coding gene	gene with protein product		615899			NA	12477932	Standard	NM_182487	NM_001282715	NA	Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.106G>T	9.37:g.127549269G>T	ENSP00000362682:p.Asp36Tyr	NA	Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	37	CCDS6857.2	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613585	0.87359	.	.	ENSG00000185585	ENST00000331715;ENST00000425732;ENST00000373580	T;T	0.52754	0.65;0.65	5.73	5.73	0.89815	.	0.109377	0.64402	D	0.000008	T	0.69762	0.3147	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70935	0.971;0.94	T	0.72204	-0.4361	10	0.87932	D	0	.	18.4586	0.90729	0.0:0.0:1.0:0.0	.	36;36	Q5JTM7;Q68BL7	.;OLM2A_HUMAN	Y	36	ENSP00000336425:D36Y;ENSP00000362682:D36Y	ENSP00000336425:D36Y	D	+	1	0	OLFML2A	126589090	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	7.587000	0.82613	2.699000	0.92147	0.655000	0.94253	GAC	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054046.2		+	ENST00000373580.3	Missense_Mutation	SNP	9 : 127549269 - 127549269 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	887	153
LRRC8D	55144	broad.mit.edu	37	1	90400677	90400677	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90400677C>T	ENST00000337338.5	+	3	2457	c.2050C>T	c.(2050-2052)Cga>Tga	p.R684*	LRRC8D_ENST00000394593.3_Nonsense_Mutation_p.R684*	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	684						integral to membrane	protein binding	p.R684*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GCATTTAAAACGACTGACTTG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Nonsense(1)	central_nervous_system(1)											63	67	66			NA	NA	1		NA											NA				90400677		2203	4299	6502	SO:0001587	stop_gained			AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492	55144	55144			16992	protein-coding gene	gene with protein product		612890	leucine rich repeat containing 5	LRRC5	NA		Standard	NM_018103	NM_018103	NA	Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.2050C>T	1.37:g.90400677C>T	ENSP00000338887:p.Arg684*	NA	D3DT29|Q6UWB2|Q9NVW3	37	CCDS726.1	.	.	.	.	.	.	.	.	.	.	C	39	7.678981	0.98428	.	.	ENSG00000171492	ENST00000337338;ENST00000394593	.	.	.	6.07	4.01	0.46588	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4984	0.61438	0.4943:0.5057:0.0:0.0	.	.	.	.	X	684	.	.	R	+	1	2	LRRC8D	90173265	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.850000	0.55918	0.784000	0.33661	0.655000	0.94253	CGA	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029203.2		+	ENST00000337338.5	Nonsense_Mutation	SNP	1 : 90400677 - 90400677 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	385	30
WDR52	0	broad.mit.edu	37	3	113115561	113115561	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113115561C>T	ENST00000295868.2	-	14	1745	c.1583G>A	c.(1582-1584)gGa>gAa	p.G528E	WDR52_ENST00000475568.1_5'UTR|WDR52_ENST00000393845.2_Missense_Mutation_p.G528E	NM_018338.3	NP_060808.2	Q96MT7	WDR52_HUMAN		528										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						AATTTGTGCTCCAGTGAAGTT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000295868.2:c.1583G>A	3.37:g.113115561C>T	ENSP00000295868:p.Gly528Glu	NA		37	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582463	0.65992	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.71934	-0.61;0.38	5.49	4.6	0.57074	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.	.	.	.	T	0.81809	0.4901	M	0.67397	2.05	0.80722	D	1	D	0.71674	0.998	D	0.64595	0.927	D	0.84547	0.0642	9	0.87932	D	0	.	16.5094	0.84280	0.0:0.8692:0.1308:0.0	.	528	Q96MT7	WDR52_HUMAN	E	528	ENSP00000377428:G528E;ENSP00000295868:G528E	ENSP00000295868:G528E	G	-	2	0	WDR52	114598251	1.000000	0.71417	0.996000	0.52242	0.606000	0.37113	3.648000	0.54410	1.434000	0.47414	0.655000	0.94253	GGA	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354128.3		-	ENST00000295868.2	Missense_Mutation	SNP	3 : 113115561 - 113115561 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	229	41
CLDN9	9080	broad.mit.edu	37	16	3063599	3063599	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3063599C>T	ENST00000445369.2	+	1	1143	c.236C>T	c.(235-237)gCc>gTc	p.A79V		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	79					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						GACCTGCAGGCCGCACGTGCC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	79	86			NA	NA	16		NA											NA				3063599		2198	4300	6498	SO:0001583	missense			AJ130941	CCDS10487.1	16p13.3	2008-08-01			ENSG00000213937	ENSG00000213937	9080	9080		Claudins	2051	protein-coding gene	gene with protein product		615799			NA	9441748, 18234789	Standard	NM_020982	NM_020982	NA	Approved		uc010uwo.1	O95484	OTTHUMG00000129000	ENST00000445369.2:c.236C>T	16.37:g.3063599C>T	ENSP00000398017:p.Ala79Val	NA		37	CCDS10487.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941470	0.53079	.	.	ENSG00000213937	ENST00000445369	D	0.91996	-2.95	4.72	3.74	0.42951	.	0.000000	0.85682	D	0.000000	D	0.93494	0.7924	M	0.75085	2.285	0.80722	D	1	P	0.50066	0.931	P	0.52758	0.708	D	0.93375	0.6738	10	0.66056	D	0.02	.	11.8215	0.52240	0.1766:0.8234:0.0:0.0	.	79	O95484	CLD9_HUMAN	V	79	ENSP00000398017:A79V	ENSP00000398017:A79V	A	+	2	0	CLDN9	3003600	1.000000	0.71417	0.828000	0.32881	0.394000	0.30568	5.929000	0.70096	1.144000	0.42321	0.467000	0.42956	GCC	CLDN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250989.1		+	ENST00000445369.2	Missense_Mutation	SNP	16 : 3063599 - 3063599 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	452	101
LRP1B	53353	broad.mit.edu	37	2	140990894	140990894	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:140990894G>A	ENST00000389484.3	-	91	14632	c.13661C>T	c.(13660-13662)cCa>cTa	p.P4554L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4554					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTAATTTGTTGGCTGAAGGAG	0.328		NA								TSP Lung(27;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(99;50 2074 2507 20106)							NA				0													57	55	56			NA	NA	2		NA											NA				140990894		2201	4293	6494	SO:0001630	splice_region_variant			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702	53353	53353		Low density lipoprotein receptors	6693	protein-coding gene	gene with protein product	LRP-deleted in tumors	608766			NA	10766186	Standard	NM_018557	NM_018557	NA	Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13660-1C>T	2.37:g.140990894G>A		NA	Q8WY29|Q8WY30|Q8WY31	37	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.080957|4.080957	0.76528|0.76528	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	T|.	0.49720|.	0.77|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.000000|.	0.64402|.	U|.	0.000002|.	T|.	0.71117|.	0.3302|.	L|L	0.52126|0.52126	1.63|1.63	0.80722|0.80722	D|D	1|1	P|.	0.45986|.	0.87|.	B|.	0.41571|.	0.36|.	T|.	0.66396|.	-0.5934|.	10|.	0.87932|.	D|.	0|.	.|.	19.8102|19.8102	0.96543|0.96543	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4554|.	Q9NZR2|.	LRP1B_HUMAN|.	L|X	4554;4492|753	ENSP00000374135:P4554L|.	ENSP00000374135:P4554L|.	P|Q	-|-	2|1	0|0	LRP1B|LRP1B	140707364|140707364	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.929000|0.929000	0.56500|0.56500	6.398000|6.398000	0.73244|0.73244	2.682000|2.682000	0.91365|0.91365	0.585000|0.585000	0.79938|0.79938	CCA|CAA	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254736.2	Missense_Mutation	-	ENST00000389484.3	Splice_Site	SNP	2 : 140990894 - 140990894 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	231	22
SCARF1	8578	broad.mit.edu	37	17	1538795	1538795	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1538795G>A	ENST00000263071.4	-	11	1799	c.1750C>T	c.(1750-1752)Cgg>Tgg	p.R584W	SCARF1_ENST00000348987.3_Missense_Mutation_p.R498W|SCARF1_ENST00000571272.1_3'UTR	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	584	Pro/Ser-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CGCTTGGCCCGAGCTAGGCTG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	61	60			NA	NA	17		NA											NA				1538795		2203	4300	6503	SO:0001583	missense			D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660	8578	8578			16820	protein-coding gene	gene with protein product	scavenger receptor expressed by endothelial cells, acetyl LDL receptor	607873			NA	9395444, 8590280	Standard	NM_003693	NM_003693	NA	Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.1750C>T	17.37:g.1538795G>A	ENSP00000263071:p.Arg584Trp	NA	A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	37	CCDS11007.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.888416	0.72524	.	.	ENSG00000074660	ENST00000263071;ENST00000348987	T;T	0.35789	1.29;1.29	5.21	0.552	0.17230	.	0.000000	0.38897	N	0.001532	T	0.54303	0.1850	L	0.57536	1.79	0.27762	N	0.943808	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.974	T	0.58457	-0.7633	10	0.87932	D	0	-23.6421	16.2366	0.82380	0.0:0.0:0.2687:0.7313	.	498;584	Q14162-2;Q14162	.;SREC_HUMAN	W	584;498	ENSP00000263071:R584W;ENSP00000323964:R498W	ENSP00000263071:R584W	R	-	1	2	SCARF1	1485545	1.000000	0.71417	0.259000	0.24435	0.979000	0.70002	2.324000	0.43831	-0.099000	0.12263	0.555000	0.69702	CGG	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207081.4		-	ENST00000263071.4	Missense_Mutation	SNP	17 : 1538795 - 1538795 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	786	71
MAPK15	225689	broad.mit.edu	37	8	144800977	144800977	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144800977G>A	ENST00000338033.4	+	5	438	c.319G>A	c.(319-321)Ggc>Agc	p.G107S	MAPK15_ENST00000395108.2_Missense_Mutation_p.G107S|MAPK15_ENST00000395107.4_Missense_Mutation_p.G124S|RP11-429J17.5_ENST00000527908.1_RNA	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	107	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCGGAAGGGCGGCCTGCTGCA	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0									SER/GLY	1,4403		0,1,2201	22	24	23		319	-6	0	8		23	0,8600		0,0,4300	no	missense	MAPK15	NM_139021.2	56	0,1,6501	AA,AG,GG	NA	0.0,0.0227,0.0077	benign	107/545	144800977	1,13003	2202	4300	6502	SO:0001583	missense			AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085	225689	225689		Mitogen-activated protein kinase cascade / Kinases	24667	protein-coding gene	gene with protein product	extracellular signal regulated kinase 8				NA	11875070	Standard	NM_139021	XM_006716528	NA	Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.319G>A	8.37:g.144800977G>A	ENSP00000337691:p.Gly107Ser	NA	Q2TCF9|Q8N362	37	CCDS6409.2	.	.	.	.	.	.	.	.	.	.	g	11.29	1.593734	0.28445	2.27E-4	0.0	ENSG00000181085	ENST00000338033;ENST00000395107;ENST00000395108	T;T;T	0.47177	0.85;0.85;0.85	4.26	-6.0	0.02206	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.198720	0.06357	N	0.710919	T	0.29524	0.0736	L	0.37561	1.115	0.09310	N	1	B	0.22851	0.076	B	0.17722	0.019	T	0.21075	-1.0256	10	0.35671	T	0.21	.	3.4777	0.07590	0.4302:0.0:0.3001:0.2696	.	107	Q8TD08	MK15_HUMAN	S	107;124;107	ENSP00000337691:G107S;ENSP00000378539:G124S;ENSP00000378540:G107S	ENSP00000337691:G107S	G	+	1	0	MAPK15	144872965	0.002000	0.14202	0.001000	0.08648	0.248000	0.25809	1.409000	0.34680	-0.901000	0.03891	0.431000	0.28591	GGC	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000300348.1		+	ENST00000338033.4	Missense_Mutation	SNP	8 : 144800977 - 144800977 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	170	34
PCDHGB3	56102	broad.mit.edu	37	5	140751489	140751489	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140751489C>T	ENST00000576222.1	+	1	1659	c.1528C>T	c.(1528-1530)Cgg>Tgg	p.R510W	PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1			protocadherin gamma subfamily B, 3	NA										endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGAGCGCGCGGAGCGGGGT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,,,,,,TRP/ARG,TRP/ARG	0,4154		0,0,2077	49	53	52		,,,,,,,1528,1528	2.9	0.1	5		52	2,8448		0,2,4223	no	intron,intron,intron,intron,intron,intron,intron,missense,missense	PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_032097.1	,,,,,,,101,101	0,2,6300	TT,TC,CC	NA	0.0237,0.0,0.0159	,,,,,,,,	,,,,,,,510/930,510/815	140751489	2,12602	2077	4225	6302	SO:0001583	missense			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26					56102	56102		Cadherins / Protocadherins : Clustered	8710	other	protocadherin		606301			NA	10380929	Standard	NM_018924	NM_018924	NA	Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1528C>T	5.37:g.140751489C>T	ENSP00000461862:p.Arg510Trp	NA		37	CCDS58980.1																																																																																			PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437094.1		+	ENST00000576222.1	Missense_Mutation	SNP	5 : 140751489 - 140751489 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	541	103
USP13	8975	broad.mit.edu	37	3	179499528	179499528	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179499528A>G	ENST00000263966.3	+	20	2886	c.2415A>G	c.(2413-2415)acA>acG	p.T805T	USP13_ENST00000496897.1_Splice_Site_p.T740T	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	805					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			CTTTCACAGCATATGAGCTAT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	109	115			NA	NA	3		NA											NA				179499528		2203	4300	6503	SO:0001630	splice_region_variant			U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056	8975	8975		Ubiquitin-specific peptidases	12611	protein-coding gene	gene with protein product		603591	ubiquitin specific protease 13 (isopeptidase T-3)		NA	12838346	Standard		NM_003940	NA	Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.2414-1A>G	3.37:g.179499528A>G		NA	D3DNS2|Q96B25	37	CCDS3235.1																																																																																			USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349617.1	Silent	+	ENST00000263966.3	Splice_Site	SNP	3 : 179499528 - 179499528 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	66
PBX3	5090	broad.mit.edu	37	9	128723010	128723010	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128723010T>A	ENST00000373487.4	+	7	1034	c.954T>A	c.(952-954)atT>atA	p.I318I	PBX3_ENST00000373483.2_Silent_p.I116I|PBX3_ENST00000447726.2_Silent_p.I222I|PBX3_ENST00000373489.5_Silent_p.I297I|PBX3_ENST00000342287.5_Silent_p.I297I|PBX3_ENST00000538998.1_3'UTR			P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	297					anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						AGAAGAACATTGGCAAGTTTC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	65	67			NA	NA	9		NA											NA				128723010		2203	4300	6503	SO:0001819	synonymous_variant				CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081	5090	5090		Homeoboxes / TALE class	8634	protein-coding gene	gene with protein product		176312	pre-B-cell leukemia transcription factor 3		NA	1682799	Standard		NM_006195	NA	Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373487.4:c.954T>A	9.37:g.128723010T>A		NA	Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	37																																																																																				PBX3-007	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000054103.2		+	ENST00000373487.4	Silent	SNP	9 : 128723010 - 128723010 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	246	60
CACNA2D2	9254	broad.mit.edu	37	3	50413104	50413104	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50413104G>A	ENST00000266039.3	-	21	2051	c.1878C>T	c.(1876-1878)acC>acT	p.T626T	CACNA2D2_ENST00000360963.3_Silent_p.T557T|CACNA2D2_ENST00000479441.1_Silent_p.T626T|CACNA2D2_ENST00000424201.2_Silent_p.T626T|CACNA2D2_ENST00000435965.1_Silent_p.T626T|CACNA2D2_ENST00000395083.1_Silent_p.T626T|CACNA2D2_ENST00000423994.2_Silent_p.T626T|CACNA2D2_ENST00000429770.1_Silent_p.T626T			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	626					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TAGGCACCCAGGTGTAGTTCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	93	96			NA	NA	3		NA											NA				50413104		2203	4300	6503	SO:0001819	synonymous_variant			AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402	9254	9254		Calcium channel subunits	1400	protein-coding gene	gene with protein product	gene 26	607082			NA		Standard	NM_006030	XM_005265581	NA	Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000266039.3:c.1878C>T	3.37:g.50413104G>A		NA	A7MD15|Q9NY48|Q9UEW0|Q9Y268	37																																																																																				CACNA2D2-002	KNOWN	non_canonical_conserved|basic	protein_coding	NA	protein_coding	OTTHUMT00000346454.2		-	ENST00000266039.3	Silent	SNP	3 : 50413104 - 50413104 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	443	77
ATG2B	55102	broad.mit.edu	37	14	96777551	96777551	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96777551G>A	ENST00000359933.4	-	28	4957	c.4064C>T	c.(4063-4065)gCg>gTg	p.A1355V	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1355										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		ATTCATTAACGCAGCACAAGA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													186	176	179			NA	NA	14		NA											NA				96777551		2203	4300	6503	SO:0001583	missense			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739	55102	55102			20187	protein-coding gene	gene with protein product			chromosome 14 open reading frame 103, ATG2 autophagy related 2 homolog B (S. cerevisiae)	C14orf103	NA	22350415	Standard	NM_018036	NM_018036	NA	Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.4064C>T	14.37:g.96777551G>A	ENSP00000353010:p.Ala1355Val	NA	Q6ZRE7|Q96DQ3|Q9NW80	37	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968575	0.74131	.	.	ENSG00000066739	ENST00000359933	T	0.12879	2.64	5.48	5.48	0.80851	.	0.104808	0.64402	D	0.000004	T	0.40645	0.1125	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.07751	-1.0756	10	0.30854	T	0.27	.	19.3709	0.94484	0.0:0.0:1.0:0.0	.	1355	Q96BY7	ATG2B_HUMAN	V	1355	ENSP00000353010:A1355V	ENSP00000353010:A1355V	A	-	2	0	ATG2B	95847304	1.000000	0.71417	0.881000	0.34555	0.567000	0.35839	9.134000	0.94467	2.576000	0.86940	0.655000	0.94253	GCG	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000314037.1		-	ENST00000359933.4	Missense_Mutation	SNP	14 : 96777551 - 96777551 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	585	121
ZNF268	10795	broad.mit.edu	37	12	133778993	133778993	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133778993C>T	ENST00000536435.2	+	6	1051	c.721C>T	c.(721-723)Caa>Taa	p.Q241*	ZNF268_ENST00000539248.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000542711.2_3'UTR|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000228289.5_Nonsense_Mutation_p.Q241*|ZNF268_ENST00000537565.1_Nonsense_Mutation_p.Q80*	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	241						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TAAACATGAGCAAACTGTTAT	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	42	42			NA	NA	12		NA											NA				133778993		1843	4085	5928	SO:0001587	stop_gained			X78926	CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1	12q24.33	2013-01-08				ENSG00000090612	10795	10795		Zinc fingers, C2H2-type, -	13061	protein-coding gene	gene with protein product		604753			NA	7865130	Standard	NM_152943	NM_003415	NA	Approved	HZF3	uc010tcf.2	Q14587	OTTHUMG00000167946	ENST00000536435.2:c.721C>T	12.37:g.133778993C>T	ENSP00000444412:p.Gln241*	NA	Q96RH4|Q9BZJ9	37	CCDS45012.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.832828	0.50951	.	.	ENSG00000090612	ENST00000541009;ENST00000228289;ENST00000537565;ENST00000541019	.	.	.	4.13	0.00634	0.14066	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5718	0.22543	0.4768:0.359:0.1641:0.0	.	.	.	.	X	241;241;80;80	.	.	Q	+	1	0	ZNF268	132289066	0.001000	0.12720	0.003000	0.11579	0.060000	0.15804	-0.163000	0.09997	0.099000	0.17552	0.637000	0.83480	CAA	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397191.2		+	ENST00000536435.2	Nonsense_Mutation	SNP	12 : 133778993 - 133778993 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	100	6
INO80	54617	broad.mit.edu	37	15	41313242	41313242	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41313242G>T	ENST00000361937.3	-	26	3554	c.3130C>A	c.(3130-3132)Ctg>Atg	p.L1044M	INO80_ENST00000401393.3_Missense_Mutation_p.L1044M|RP11-540O11.4_ENST00000558967.1_RNA			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1044	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTGGCTGCCAGACTCCCTCCT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	85	88			NA	NA	15		NA											NA				41313242		2203	4300	6503	SO:0001583	missense			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	54617	54617	3.6.1.3	INO80 complex subunits	26956	protein-coding gene	gene with protein product	INO80 complex subunit A	610169	INO80 complex homolog 1 (S. cerevisiae), INO80 homolog (S. cerevisiae)	INOC1	NA	16298340, 16230350, 20237820	Standard	NM_017553	NM_017553	NA	Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.3130C>A	15.37:g.41313242G>T	ENSP00000355205:p.Leu1044Met	NA	A6H8X4|Q9NTG6	37	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744557	0.49151	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.91180	-2.8;-2.8	5.14	4.23	0.50019	.	0.427308	0.24260	N	0.040091	D	0.83811	0.5335	N	0.24115	0.695	0.35107	D	0.765768	P	0.46277	0.875	B	0.41571	0.36	D	0.85873	0.1417	10	0.28530	T	0.3	.	13.7206	0.62725	0.074:0.0:0.926:0.0	.	1044	Q9ULG1	INO80_HUMAN	M	1044	ENSP00000355205:L1044M;ENSP00000384686:L1044M	ENSP00000355205:L1044M	L	-	1	2	INO80	39100534	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.784000	0.38674	1.397000	0.46682	-0.136000	0.14681	CTG	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252527.2		-	ENST00000361937.3	Missense_Mutation	SNP	15 : 41313242 - 41313242 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	19
OTUD7B	56957	broad.mit.edu	37	1	149916165	149916165	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149916165C>T	ENST00000369135.4	-	12	2417	c.2123G>A	c.(2122-2124)tGc>tAc	p.C708Y		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	NA					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GGGTTCCTGGCAGTGGACTCC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	36	35			NA	NA	1		NA											NA				149916165		1907	4103	6010	SO:0001583	missense			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522	56957	56957		OTU domain containing	16683	protein-coding gene	gene with protein product		611748	zinc finger, A20 domain containing 1, OTU domain containing 7B	ZA20D1	NA	11463333, 23827681	Standard	NM_020205	NM_020205	NA	Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.2123G>A	1.37:g.149916165C>T	ENSP00000358131:p.Cys708Tyr	NA	D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	37	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.486588	0.01018	.	.	ENSG00000163113	ENST00000369135;ENST00000543330	T	0.28069	1.63	4.35	2.4	0.29515	.	0.653611	0.16589	N	0.207856	T	0.03011	0.0089	N	0.03608	-0.345	0.29048	N	0.884704	B	0.02656	0.0	B	0.01281	0.0	T	0.43310	-0.9399	9	.	.	.	-4.9849	3.2711	0.06882	0.1875:0.5359:0.0:0.2766	.	708	Q6GQQ9	OTU7B_HUMAN	Y	708	ENSP00000358131:C708Y	.	C	-	2	0	OTUD7B	148182789	1.000000	0.71417	0.996000	0.52242	0.771000	0.43674	1.522000	0.35921	0.438000	0.26450	0.450000	0.29827	TGC	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034146.3		-	ENST00000369135.4	Missense_Mutation	SNP	1 : 149916165 - 149916165 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	435	103
ZBTB20	26137	broad.mit.edu	37	3	114070553	114070553	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114070553G>A	ENST00000462705.1	-	11	974	c.153C>T	c.(151-153)gcC>gcT	p.A51A	ZBTB20_ENST00000357258.3_Silent_p.A51A|ZBTB20_ENST00000474710.1_Silent_p.A124A|ZBTB20_ENST00000471418.1_Silent_p.A51A|ZBTB20_ENST00000393785.2_Silent_p.A51A|ZBTB20_ENST00000481632.1_Silent_p.A51A|ZBTB20_ENST00000464560.1_Silent_p.A51A	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		AGGGGCTGCCGGCTGCCAGCA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(69;748 1344 9802 11203 30933)							NA				0													44	42	42			NA	NA	3		NA											NA				114070553		2203	4300	6503	SO:0001819	synonymous_variant			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722	26137	26137		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	13503	protein-coding gene	gene with protein product		606025	zinc finger protein 288	ZNF288	NA	10965110, 11352661	Standard	NM_015642	XM_005247339	NA	Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000462705.1:c.153C>T	3.37:g.114070553G>A		NA	Q63HP6|Q8N6R5|Q9Y410	37	CCDS2981.1																																																																																			ZBTB20-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354954.1		-	ENST00000462705.1	Silent	SNP	3 : 114070553 - 114070553 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	288	47
CHCHD7	79145	broad.mit.edu	37	8	57129954	57129954	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:57129954G>A	ENST00000523975.1	+	5	402	c.254G>A	c.(253-255)aGa>aAa	p.R85K	CHCHD7_ENST00000396723.5_Missense_Mutation_p.R82K|CHCHD7_ENST00000521831.1_3'UTR|CHCHD7_ENST00000521524.1_3'UTR|CHCHD7_ENST00000518801.1_3'UTR|CHCHD7_ENST00000519367.1_3'UTR|CHCHD7_ENST00000303759.3_Missense_Mutation_p.R98K|CHCHD7_ENST00000355315.3_Missense_Mutation_p.R73K|CHCHD7_ENST00000523061.1_3'UTR			Q9BUK0	CHCH7_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 7	73									CHCHD7/PLAG1(12)	endometrium(1)	1		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00159)|all cancers(17;0.0112)			GCAGCAGAAAGAGATGAAATC	0.343		NA	T	PLAG1	salivary adenoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		8	8q11.2	79145	coiled-coil-helix-coiled-coil-helix domain containing 7		E	0													109	116	114			NA	NA	8		NA											NA				57129954		2203	4300	6503	SO:0001583	missense			AK095922	CCDS34895.1, CCDS34896.1, CCDS6166.2, CCDS55232.1, CCDS55233.1	8q11.23	2012-10-15			ENSG00000170791	ENSG00000170791	79145	79145		Coiled-coil-helix-coiled-coil-helix domain containing	28314	protein-coding gene	gene with protein product	COX23 cytochrome c oxidase assembly homolog (S. cerevisiae)	611238			NA	20922212, 22842048	Standard	NM_024300	XR_428340	NA	Approved	MGC2217, COX23	uc003xsv.3	Q9BUK0	OTTHUMG00000074081	ENST00000523975.1:c.254G>A	8.37:g.57129954G>A	ENSP00000428917:p.Arg85Lys	NA	A8K223|Q7Z588	37	CCDS6166.2	.	.	.	.	.	.	.	.	.	.	G	35	5.549267	0.96488	.	.	ENSG00000170791	ENST00000355315;ENST00000303759;ENST00000523975;ENST00000396723	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.51024	0.1650	.	.	.	0.53688	D	0.999979	D;D	0.71674	0.998;0.998	D;D	0.77557	0.99;0.99	T	0.48055	-0.9068	9	0.66056	D	0.02	.	19.5254	0.95203	0.0:0.0:1.0:0.0	.	73;85	Q9BUK0;Q9BUK0-2	CHCH7_HUMAN;.	K	73;98;85;82	ENSP00000347469:R73K;ENSP00000306425:R98K;ENSP00000428917:R85K;ENSP00000379949:R82K	ENSP00000306425:R98K	R	+	2	0	CHCHD7	57292508	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.393000	0.79851	2.857000	0.98124	0.650000	0.86243	AGA	CHCHD7-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157277.2		+	ENST00000523975.1	Missense_Mutation	SNP	8 : 57129954 - 57129954 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	378	68
SULT4A1	25830	broad.mit.edu	37	22	44234874	44234874	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44234874C>A	ENST00000330884.4	-	4	502		c.e4-1		SULT4A1_ENST00000540422.1_Intron|SULT4A1_ENST00000249130.5_Splice_Site	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	NA					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		TATAGATGACCTGTGGGTGAC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	89	99			NA	NA	22		NA											NA				44234874		2203	4300	6503	SO:0001630	splice_region_variant			AF188698	CCDS14051.1	22q13.2	2012-11-05			ENSG00000130540	ENSG00000130540	25830	25830		Sulfotransferases, cytosolic	14903	protein-coding gene	gene with protein product		608359			NA	10698717	Standard	NM_014351	NM_014351	NA	Approved	SULTX3, hBR-STL-1	uc003bee.1	Q9BR01	OTTHUMG00000141314	ENST00000330884.4:c.382-1G>T	22.37:g.44234874C>A		NA	B2R7N3|O43728	37	CCDS14051.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726121	0.69074	.	.	ENSG00000130540	ENST00000330884;ENST00000249130	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7041	0.85367	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SULT4A1	42566207	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.396000	0.79891	2.175000	0.68902	0.655000	0.94253	.	SULT4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280660.2	Intron	-	ENST00000330884.4	Splice_Site	SNP	22 : 44234874 - 44234874 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	377	73
KNDC1	85442	broad.mit.edu	37	10	134999981	134999981	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134999981C>A	ENST00000304613.3	+	6	1150	c.1129C>A	c.(1129-1131)Ccc>Acc	p.P377T	KNDC1_ENST00000368572.2_Missense_Mutation_p.P377T|KNDC1_ENST00000368571.2_Missense_Mutation_p.P312T			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	377					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGGACGGGTTCCCTGTGCAGG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	18	17			NA	NA	10		NA											NA				134999981		2194	4294	6488	SO:0001583	missense			AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798	85442	85442			29374	protein-coding gene	gene with protein product			RasGEF domain family, member 2	RASGEF2, C10orf23	NA	11214970	Standard	NM_152643	NM_152643	NA	Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.1129C>A	10.37:g.134999981C>A	ENSP00000304437:p.Pro377Thr	NA	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	37	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	C	4.390	0.071987	0.08436	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.17691	2.75;2.75;2.26	3.66	1.72	0.24424	.	1.960230	0.03115	U	0.163004	T	0.12518	0.0304	N	0.19112	0.55	0.09310	N	1	B;B	0.27732	0.187;0.001	B;B	0.24701	0.055;0.001	T	0.27502	-1.0072	10	0.52906	T	0.07	.	5.4819	0.16729	0.0:0.654:0.2237:0.1223	.	312;377	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	T	377;377;312	ENSP00000304437:P377T;ENSP00000357561:P377T;ENSP00000357560:P312T	ENSP00000304437:P377T	P	+	1	0	KNDC1	134849971	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.315000	0.19451	0.312000	0.23038	0.538000	0.68166	CCC	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277044.3		+	ENST00000304613.3	Missense_Mutation	SNP	10 : 134999981 - 134999981 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	195	41
MYO10	4651	broad.mit.edu	37	5	16673839	16673839	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16673839G>A	ENST00000513610.1	-	36	5578	c.5124C>T	c.(5122-5124)ggC>ggT	p.G1708G	MYO10_ENST00000427430.2_Silent_p.G1065G|MYO10_ENST00000505695.1_Silent_p.G1047G|MYO10_ENST00000515803.1_Silent_p.G1047G|MYO10_ENST00000274203.9_Silent_p.G1065G	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1708	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGGAGCCGCCGCCATGGCAAT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,3993		0,1,1996	75	78	77		5124	-8.7	0.1	5		77	0,8336		0,0,4168	no	coding-synonymous	MYO10	NM_012334.2		0,1,6164	AA,AG,GG	NA	0.0,0.025,0.0081		1708/2059	16673839	1,12329	1997	4168	6165	SO:0001819	synonymous_variant			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555	4651	4651		Myosins / Myosin superfamily : Class X, Pleckstrin homology (PH) domain containing	7593	protein-coding gene	gene with protein product		601481			NA	8884266	Standard	NM_012334	NM_012334	NA	Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.5124C>T	5.37:g.16673839G>A		NA	A7E2D1|O94893|Q9NYM7|Q9P110|Q9P111|Q9UHF6	37	CCDS54834.1																																																																																			MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366167.1		-	ENST00000513610.1	Silent	SNP	5 : 16673839 - 16673839 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	217	38
ZMAT1	84460	broad.mit.edu	37	X	101152901	101152901	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101152901G>T	ENST00000372782.3	-	5	492	c.445C>A	c.(445-447)Ctg>Atg	p.L149M	ZMAT1_ENST00000540921.1_Missense_Mutation_p.L149M|ZMAT1_ENST00000458570.1_De_novo_Start_InFrame	NM_001011657.3	NP_001011657	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	446						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						AATTGCTTCAGTTTTTTAGCA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	113	125			NA	NA	X		NA											NA				101152901		2203	4300	6503	SO:0001583	missense			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432	84460	84460		Zinc fingers, matrin-type	29377	protein-coding gene	gene with protein product					NA		Standard		NM_001011657	NA	Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.445C>A	X.37:g.101152901G>T	ENSP00000361868:p.Leu149Met	NA		37	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	G	4.432	0.080019	0.08533	.	.	ENSG00000166432	ENST00000372782;ENST00000540921	T;T	0.50813	0.73;0.73	4.59	0.583	0.17417	Zinc finger, U1-type (1);	1.020460	0.07905	N	0.973291	T	0.52533	0.1740	L	0.49256	1.55	0.20403	N	0.999909	D	0.76494	0.999	D	0.65233	0.933	T	0.37663	-0.9696	10	0.41790	T	0.15	0.002	0.3831	0.00398	0.2056:0.2103:0.272:0.3121	.	149	Q5H9K5	ZMAT1_HUMAN	M	149	ENSP00000361868:L149M;ENSP00000437529:L149M	ENSP00000361868:L149M	L	-	1	2	ZMAT1	101039557	0.441000	0.25626	0.020000	0.16555	0.163000	0.22366	0.108000	0.15396	0.084000	0.17077	0.502000	0.49764	CTG	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057598.1		-	ENST00000372782.3	Missense_Mutation	SNP	X : 101152901 - 101152901 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	341	113
HIST1H1T	3010	broad.mit.edu	37	6	26108003	26108003	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26108003C>T	ENST00000338379.4	-	1	361	c.319G>A	c.(319-321)Ggt>Agt	p.G107S		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	107	H15.				cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						TTAAAGGAACCGGAAGCACCA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	94	94			NA	NA	6		NA											NA				26108003		2203	4300	6503	SO:0001583	missense			M60094	CCDS34349.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000187475	ENSG00000187475	3010	3010		Histones / Replication-dependent	4720	protein-coding gene	gene with protein product		142712	H1 histone family, member T (testis-specific), histone 1, H1t	H1FT	NA	8175896, 12408966	Standard	NM_005323	NM_005323	NA	Approved	H1t	uc003ngj.3	P22492	OTTHUMG00000014430	ENST00000338379.4:c.319G>A	6.37:g.26108003C>T	ENSP00000341214:p.Gly107Ser	NA	Q6ISI1|Q8IUE8	37	CCDS34349.1	.	.	.	.	.	.	.	.	.	.	.	19.95	3.922252	0.73213	.	.	ENSG00000187475	ENST00000338379	T	0.57907	0.37	5.38	5.38	0.77491	Histone H1/H5 (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.82379	0.5024	H	0.98446	4.235	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.88674	0.3197	10	0.87932	D	0	-22.0053	18.3099	0.90195	0.0:1.0:0.0:0.0	.	107	P22492	H1T_HUMAN	S	107	ENSP00000341214:G107S	ENSP00000341214:G107S	G	-	1	0	HIST1H1T	26215982	1.000000	0.71417	0.222000	0.23844	0.012000	0.07955	5.912000	0.69948	2.802000	0.96397	0.655000	0.94253	GGT	HIST1H1T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040093.2		-	ENST00000338379.4	Missense_Mutation	SNP	6 : 26108003 - 26108003 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	507	91
RPH3A	22895	broad.mit.edu	37	12	113328755	113328755	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113328755C>T	ENST00000389385.4	+	19	2219	c.1722C>T	c.(1720-1722)tgC>tgT	p.C574C	RPH3A_ENST00000415485.3_Silent_p.C574C|RPH3A_ENST00000447659.2_Silent_p.C525C|RPH3A_ENST00000551052.1_Silent_p.C570C|RPH3A_ENST00000548866.1_Silent_p.C525C|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000543106.2_Silent_p.C574C|RPH3A_ENST00000420983.2_Silent_p.C574C	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	574	C2 2.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TCATACGCTGCGTGCACCTGG	0.582		NA											C	2	9e-04	NA	0.01	2184	NA	0.9997	,	,	NA	3e-04	NA	NA	NA	0.0011	0.8902	EXOME	NA	NA	7e-04	SNP								NA				0													124	83	97			NA	NA	12		NA											NA				113328755		2203	4300	6503	SO:0001819	synonymous_variant			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169	22895	22895		Synaptotagmins	17056	protein-coding gene	gene with protein product		612159	rabphilin 3A homolog (mouse)		NA	10231032, 7822236	Standard	NM_014954	NM_014954	NA	Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.1722C>T	12.37:g.113328755C>T		NA	B7Z3C3|Q96AE0	37	CCDS44979.1																																																																																			RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405561.1		+	ENST00000389385.4	Silent	SNP	12 : 113328755 - 113328755 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	186	48
SQSTM1	8878	broad.mit.edu	37	5	179260104	179260104	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179260104C>A	ENST00000389805.4	+	6	1005	c.827C>A	c.(826-828)tCc>tAc	p.S276Y	SQSTM1_ENST00000376929.3_Missense_Mutation_p.S192Y|SQSTM1_ENST00000402874.3_Missense_Mutation_p.S192Y|SQSTM1_ENST00000360718.5_Missense_Mutation_p.S192Y|SQSTM1_ENST00000510187.1_Missense_Mutation_p.S276Y	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	276	Interaction with NTRK1 (By similarity).|Ser-rich.				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGAGAGTTCCAGCACAGAG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	52	51			NA	NA	5		NA											NA				179260104		2203	4300	6503	SO:0001583	missense			U46751	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011	8878	8878			11280	protein-coding gene	gene with protein product		601530	Paget disease of bone 3, oxidative stress induced like	PDB3, OSIL	NA	8650207, 8551575	Standard		NM_003900	NA	Approved	p62, p60, p62B, A170	uc003mkw.4	Q13501	OTTHUMG00000150643	ENST00000389805.4:c.827C>A	5.37:g.179260104C>A	ENSP00000374455:p.Ser276Tyr	NA	A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	37	CCDS34317.1	.	.	.	.	.	.	.	.	.	.	C	1.762	-0.486551	0.04352	.	.	ENSG00000161011	ENST00000376929;ENST00000389805;ENST00000454378;ENST00000402874;ENST00000510187;ENST00000360718	D;D;D;T;D	0.82619	-1.63;-1.63;-1.63;2.36;-1.63	5.0	2.23	0.28157	.	1.296320	0.04736	N	0.421909	D	0.89911	0.6852	M	0.66939	2.045	0.37016	D	0.895976	P;D	0.65815	0.901;0.995	B;D	0.75484	0.444;0.986	T	0.77752	-0.2470	10	0.34782	T	0.22	-14.1846	10.3902	0.44164	0.0:0.7833:0.0:0.2167	.	276;276	Q13501;E7EMC7	SQSTM_HUMAN;.	Y	192;276;132;192;276;192	ENSP00000366128:S192Y;ENSP00000374455:S276Y;ENSP00000385553:S192Y;ENSP00000424477:S276Y;ENSP00000353944:S192Y	ENSP00000353944:S192Y	S	+	2	0	SQSTM1	179192710	0.034000	0.19679	0.125000	0.21846	0.141000	0.21300	2.889000	0.48601	0.233000	0.21120	-0.424000	0.05967	TCC	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319344.1		+	ENST00000389805.4	Missense_Mutation	SNP	5 : 179260104 - 179260104 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	80
SNAP29	9342	broad.mit.edu	37	22	21224631	21224631	+	Missense_Mutation	SNP	G	G	A	rs146502130	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21224631G>A	ENST00000215730.7	+	2	372	c.244G>A	c.(244-246)Gcc>Acc	p.A82T		NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	NA					cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			CCAGGAGCTCGCCCGTCAGCG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	81	74	77		244	3.4	0.3	22	dbSNP_134	77	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SNAP29	NM_004782.3	58	0,2,6501	AA,AG,GG	NA	0.0116,0.0227,0.0154	benign	82/259	21224631	2,13004	2203	4300	6503	SO:0001583	missense			AF115436	CCDS13784.1	22q11.21	2008-06-10	2002-08-29		ENSG00000099940	ENSG00000099940	9342	9342			11133	protein-coding gene	gene with protein product	soluble 29 kDa NSF attachment protein	604202	synaptosomal-associated protein, 29kD		NA	9852078, 10591208	Standard	NM_004782	NM_004782	NA	Approved	SNAP-29, CEDNIK	uc011ahw.2	O95721	OTTHUMG00000150765	ENST00000215730.7:c.244G>A	22.37:g.21224631G>A	ENSP00000215730:p.Ala82Thr	NA		37	CCDS13784.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.651895	0.29336	2.27E-4	1.16E-4	ENSG00000099940	ENST00000215730	T	0.76839	-1.05	5.58	3.37	0.38596	Target SNARE coiled-coil domain (1);	0.328618	0.32120	N	0.006545	T	0.60625	0.2283	L	0.27053	0.805	0.09310	N	1	B	0.14805	0.011	B	0.12156	0.007	T	0.41016	-0.9532	10	0.18276	T	0.48	-14.9797	7.7116	0.28682	0.191:0.1277:0.6814:0.0	.	82	O95721	SNP29_HUMAN	T	82	ENSP00000215730:A82T	ENSP00000215730:A82T	A	+	1	0	SNAP29	19554631	0.017000	0.18338	0.282000	0.24776	0.226000	0.24999	0.542000	0.23222	1.357000	0.45904	0.591000	0.81541	GCC	SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320000.4		+	ENST00000215730.7	Missense_Mutation	SNP	22 : 21224631 - 21224631 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	419	80
FNIP1	96459	broad.mit.edu	37	5	131066680	131066680	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131066680T>C	ENST00000307954.8	-	3	248				FNIP1_ENST00000511848.1_Missense_Mutation_p.K91E|FNIP1_ENST00000510461.1_Missense_Mutation_p.K91E|FNIP1_ENST00000307968.7_Missense_Mutation_p.K91E|CTC-432M15.3_ENST00000514667.1_Intron					folliculin interacting protein 1	NA										NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		CCTCCAGGTTTCAGTTGGCAG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	92	93			NA	NA	5		NA											NA				131066680		2203	4300	6503	SO:0001627	intron_variant			DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128	96459	96459			29418	protein-coding gene	gene with protein product		610594			NA	11853319, 17028174	Standard	NM_133372	NM_001008738	NA	Approved	KIAA1961		Q8TF40		ENST00000307954.8:c.220-11570A>G	5.37:g.131066680T>C		NA		37		.	.	.	.	.	.	.	.	.	.	T	15.59	2.877420	0.51801	.	.	ENSG00000217128	ENST00000307968;ENST00000510461;ENST00000511848	T;T;T	0.43294	0.95;0.95;0.95	5.27	5.27	0.74061	.	.	.	.	.	T	0.31295	0.0792	L	0.29908	0.895	0.42460	D	0.992788	B;P;B	0.41848	0.25;0.763;0.336	B;B;B	0.36464	0.117;0.225;0.138	T	0.09207	-1.0685	9	0.30854	T	0.27	-6.0328	15.4806	0.75524	0.0:0.0:0.0:1.0	.	91;91;91	Q8TF40-2;Q8TF40-3;Q8TF40	.;.;FNIP1_HUMAN	E	91	ENSP00000309266:K91E;ENSP00000421985:K91E;ENSP00000425619:K91E	ENSP00000309266:K91E	K	-	1	0	FNIP1	131094579	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.769000	0.68865	2.124000	0.65301	0.533000	0.62120	AAA	FNIP1-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000370078.1		-	ENST00000307954.8	Intron	SNP	5 : 131066680 - 131066680 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	330	72
ITGA1	3672	broad.mit.edu	37	5	52218680	52218680	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52218680T>G	ENST00000282588.6	+	18	2824	c.2366T>G	c.(2365-2367)gTt>gGt	p.V789G		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	789					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AATGGGCCTGTTCTTGATGAT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	130	132			NA	NA	5		NA											NA				52218680		2203	4300	6503	SO:0001583	missense			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949	3672	3672		CD molecules, Integrins	6134	protein-coding gene	gene with protein product		192968			NA	8428973, 11937138	Standard	NM_181501	NM_181501	NA	Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.2366T>G	5.37:g.52218680T>G	ENSP00000282588:p.Val789Gly	NA	B2RNU0	37	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.439252	0.83885	.	.	ENSG00000213949	ENST00000282588	T	0.57273	0.41	5.9	5.9	0.94986	Integrin alpha-2 (1);	0.263224	0.37178	N	0.002211	T	0.70360	0.3215	M	0.62723	1.935	0.80722	D	1	D	0.67145	0.996	D	0.74674	0.984	T	0.73164	-0.4069	10	0.87932	D	0	.	16.3264	0.82983	0.0:0.0:0.0:1.0	.	789	P56199	ITA1_HUMAN	G	789	ENSP00000282588:V789G	ENSP00000282588:V789G	V	+	2	0	ITGA1	52254437	1.000000	0.71417	0.556000	0.28293	0.995000	0.86356	6.327000	0.72910	2.259000	0.74868	0.374000	0.22700	GTT	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253855.3		+	ENST00000282588.6	Missense_Mutation	SNP	5 : 52218680 - 52218680 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	699	112
PROKR1	10887	broad.mit.edu	37	2	68873141	68873141	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68873141T>C	ENST00000303786.3	+	2	608	c.188T>C	c.(187-189)aTt>aCt	p.I63T	PROKR1_ENST00000394342.2_Missense_Mutation_p.I63T			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	63						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCTGCCAAGATTGTCATTGGG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													229	199	209			NA	NA	2		NA											NA				68873141		2203	4300	6503	SO:0001583	missense			AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618	10887	10887		GPCR / Class A : Prokineticin receptors	4524	protein-coding gene	gene with protein product		607122	G protein-coupled receptor 73	GPR73	NA	10760605	Standard		NM_138964	NA	Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.188T>C	2.37:g.68873141T>C	ENSP00000303775:p.Ile63Thr	NA	A5JUU2|Q53QT9|Q8NFJ7	37	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	T	17.87	3.495363	0.64186	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.38240	1.15;1.15	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.40909	0.1136	M	0.67397	2.05	0.58432	D	0.999993	P	0.38250	0.624	B	0.40864	0.342	T	0.27971	-1.0058	10	0.36615	T	0.2	.	13.3807	0.60766	0.0:0.0:0.0:1.0	.	63	Q8TCW9	PKR1_HUMAN	T	63	ENSP00000303775:I63T;ENSP00000377874:I63T	ENSP00000303775:I63T	I	+	2	0	PROKR1	68726645	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.539000	0.67199	2.330000	0.79161	0.528000	0.53228	ATT	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251760.2		+	ENST00000303786.3	Missense_Mutation	SNP	2 : 68873141 - 68873141 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	907	245
ZNF37A	7587	broad.mit.edu	37	10	38403694	38403694	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38403694G>A	ENST00000361085.5	+	5	372	c.27G>A	c.(25-27)tcG>tcA	p.S9S	ZNF37A_ENST00000351773.3_Silent_p.S9S|ZNF37A_ENST00000479469.1_3'UTR	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	NA	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						GATCAGTGTCGTTTAGGGATG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	133	135			NA	NA	10		NA											NA				38403694		2203	4300	6503	SO:0001819	synonymous_variant			X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407	7587	7587		Zinc fingers, C2H2-type, -	13102	protein-coding gene	gene with protein product			zinc finger protein 37a (KOX 21)		NA	2014798, 8464732	Standard	NM_003421	NM_001178101	NA	Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.27G>A	10.37:g.38403694G>A		NA	B3KRQ3|D3DRZ3|Q96B88	37	CCDS31183.1																																																																																			ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047624.2		+	ENST00000361085.5	Silent	SNP	10 : 38403694 - 38403694 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	640	123
PHC3	80012	broad.mit.edu	37	3	169890386	169890386	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169890386G>A	ENST00000495893.2	-	3	326	c.295C>T	c.(295-297)Cat>Tat	p.H99Y	PHC3_ENST00000497658.1_Missense_Mutation_p.H99Y|PHC3_ENST00000481639.1_Missense_Mutation_p.H95Y|PHC3_ENST00000494943.1_Missense_Mutation_p.H87Y|PHC3_ENST00000474275.1_Missense_Mutation_p.H83Y|PHC3_ENST00000467570.1_Missense_Mutation_p.H99Y	NM_024947.3	NP_079223.3	Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	NA	Ser-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			CTGCTTAAATGCTGCTGCTGA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	73	73			NA	NA	3		NA											NA				169890386		1923	4134	6057	SO:0001583	missense				CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889	80012	80012		Sterile alpha motif (SAM) domain containing	15682	protein-coding gene	gene with protein product	early development regulator 3, polyhomeotic like 3		polyhomeotic like 3 (Drosophila)		NA	12167701, 12384788	Standard	NM_024947	NM_024947	NA	Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000495893.2:c.295C>T	3.37:g.169890386G>A	ENSP00000420294:p.His99Tyr	NA	A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	37	CCDS46952.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.682923	0.47991	.	.	ENSG00000173889	ENST00000494943;ENST00000495893;ENST00000467570;ENST00000484931;ENST00000466189;ENST00000475729;ENST00000474275;ENST00000465896;ENST00000497658;ENST00000481639	T;T	0.46451	0.87;0.89	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000001	T	0.64962	0.2646	M	0.69358	2.11	0.58432	D	0.99999	D;D;D;D;D;P;D;D	0.67145	0.989;0.989;0.981;0.989;0.996;0.908;0.989;0.989	D;D;D;D;D;D;D;D	0.78314	0.969;0.979;0.954;0.979;0.991;0.922;0.979;0.979	T	0.62006	-0.6945	9	.	.	.	-12.3087	19.8505	0.96738	0.0:0.0:1.0:0.0	.	99;99;87;99;95;83;99;99	B4E2T1;E7EX82;Q8NDX5;Q8NDX5-5;G5E9U7;Q8NDX5-4;Q8NDX5-3;Q8NDX5-7	.;.;PHC3_HUMAN;.;.;.;.;.	Y	87;99;99;99;99;99;83;99;99;95	ENSP00000420271:H87Y;ENSP00000420294:H99Y	.	H	-	1	0	PHC3	171373080	1.000000	0.71417	1.000000	0.80357	0.183000	0.23260	8.893000	0.92498	2.688000	0.91661	0.655000	0.94253	CAT	PHC3-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352186.3		-	ENST00000495893.2	Missense_Mutation	SNP	3 : 169890386 - 169890386 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	332	73
SLC12A7	10723	broad.mit.edu	37	5	1052541	1052541	+	Silent	SNP	G	G	A	rs138980870		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1052541G>A	ENST00000264930.5	-	24	3229	c.3186C>T	c.(3184-3186)acC>acT	p.T1062T		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	1062					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCAGCCCCTCGGTCAGGACTT	0.552		NA											G	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0								G		0,4406		0,0,2203	93	91	92		3186	-7.8	0.8	5	dbSNP_134	92	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC12A7	NM_006598.2		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		1062/1084	1052541	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504	10723	10723		Solute carriers	10915	protein-coding gene	gene with protein product		604879			NA	10347194	Standard	NM_006598	NM_006598	NA	Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.3186C>T	5.37:g.1052541G>A		NA	A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	37	CCDS34129.1																																																																																			SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366446.2		-	ENST00000264930.5	Silent	SNP	5 : 1052541 - 1052541 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	608	35
STXBP1	6812	broad.mit.edu	37	9	130430387	130430387	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130430387C>T	ENST00000373302.3	+	10	962	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	STXBP1_ENST00000373299.1_Missense_Mutation_p.R275W	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	275					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						CGGGGAGGCACGGGTGAAGGA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	85	90			NA	NA	9		NA											NA				130430387		2203	4300	6503	SO:0001583	missense			AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854	6812	6812			11444	protein-coding gene	gene with protein product	syntaxin-binding protein 1	602926			NA	9545644	Standard	NM_003165	NM_001032221	NA	Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373302.3:c.823C>T	9.37:g.130430387C>T	ENSP00000362399:p.Arg275Trp	NA	B1AM97|Q28208|Q62759|Q64320|Q96TG8	37	CCDS6874.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.897959	0.72639	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000541198;ENST00000373299	T;T	0.80653	-1.4;-1.4	5.95	4.09	0.47781	.	0.051872	0.85682	N	0.000000	D	0.88284	0.6395	M	0.80183	2.485	0.58432	D	0.999998	D;D	0.69078	0.997;0.997	P;P	0.62382	0.901;0.663	D	0.89115	0.3499	10	0.72032	D	0.01	-24.1287	13.7543	0.62926	0.2788:0.7212:0.0:0.0	.	275;275	P61764;P61764-2	STXB1_HUMAN;.	W	229;275;107;275	ENSP00000362399:R275W;ENSP00000362396:R275W	ENSP00000362396:R275W	R	+	1	2	STXBP1	129470208	0.889000	0.30405	0.703000	0.30354	0.505000	0.33919	1.803000	0.38863	0.834000	0.34852	0.491000	0.48974	CGG	STXBP1-001	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054228.1		+	ENST00000373302.3	Missense_Mutation	SNP	9 : 130430387 - 130430387 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	314	47
HIBADH	11112	broad.mit.edu	37	7	27669044	27669044	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27669044C>T	ENST00000265395.2	-	4	636	c.430G>A	c.(430-432)Gcc>Acc	p.A144T		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	144					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	ACTTCTTTGGCCAATTCTTTT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	146	146			NA	NA	7		NA											NA				27669044		2203	4300	6503	SO:0001583	missense			AF529362	CCDS5414.1	7p15	2009-06-12			ENSG00000106049	ENSG00000106049	11112	11112	1.1.1.31		4907	protein-coding gene	gene with protein product		608475			NA		Standard	NM_152740	NM_152740	NA	Approved	NS5ATP1	uc003szf.3	P31937	OTTHUMG00000097035	ENST00000265395.2:c.430G>A	7.37:g.27669044C>T	ENSP00000265395:p.Ala144Thr	NA	Q9UDN3	37	CCDS5414.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.3|26.3	4.728778|4.728778	0.89390|0.89390	.|.	.|.	ENSG00000106049|ENSG00000106049	ENST00000265395|ENST00000425715	T|.	0.38401|.	1.14|.	5.73|5.73	5.73|5.73	0.89815|0.89815	6-phosphogluconate dehydrogenase, NADP-binding (1);NAD(P)-binding domain (1);|.	0.103605|.	0.64402|.	D|.	0.000003|.	D|.	0.84365|.	0.5456|.	M|M	0.87758|0.87758	2.905|2.905	0.80722|0.80722	D|D	1|1	B;B|.	0.27882|.	0.192;0.192|.	B;B|.	0.37550|.	0.253;0.253|.	D|.	0.85455|.	0.1163|.	10|.	0.59425|.	D|.	0.04|.	-17.6332|-17.6332	19.918|19.918	0.97070|0.97070	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	144;144|.	Q546Z2;P31937|.	.;3HIDH_HUMAN|.	T|X	144|86	ENSP00000265395:A144T|.	ENSP00000265395:A144T|.	A|W	-|-	1|3	0|0	HIBADH|HIBADH	27635569|27635569	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.490000|4.490000	0.60319|0.60319	2.714000|2.714000	0.92807|0.92807	0.650000|0.650000	0.86243|0.86243	GCC|TGG	HIBADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214132.1		-	ENST00000265395.2	Missense_Mutation	SNP	7 : 27669044 - 27669044 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	563	84
ARSI	340075	broad.mit.edu	37	5	149677669	149677669	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149677669G>T	ENST00000328668.7	-	2	1397	c.818C>A	c.(817-819)gCt>gAt	p.A273D		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	273						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTGCGCACAGCCTCATCCAT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	37	39			NA	NA	5		NA											NA				149677669		2203	4300	6503	SO:0001583	missense			AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876	340075	340075		Arylsulfatase family	32521	protein-coding gene	gene with protein product		610009	arylsulfatase I		NA	16174644, 24482476	Standard	NM_001012301	NM_001012301	NA	Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.818C>A	5.37:g.149677669G>T	ENSP00000333395:p.Ala273Asp	NA	A1L3B0|B3KV22|B7XD03	37	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432615	0.83776	.	.	ENSG00000183876	ENST00000328668;ENST00000515301	D;D	0.96913	-4.17;-4.17	4.46	4.46	0.54185	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97583	0.9208	M	0.78049	2.395	0.80722	D	1	P	0.50943	0.94	P	0.58391	0.838	D	0.98335	1.0535	10	0.72032	D	0.01	.	17.6599	0.88189	0.0:0.0:1.0:0.0	.	273	Q5FYB1	ARSI_HUMAN	D	273;130	ENSP00000333395:A273D;ENSP00000426879:A130D	ENSP00000333395:A273D	A	-	2	0	ARSI	149657862	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	5.501000	0.66950	2.460000	0.83146	0.561000	0.74099	GCT	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373681.1		-	ENST00000328668.7	Missense_Mutation	SNP	5 : 149677669 - 149677669 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	233	47
PCDH20	64881	broad.mit.edu	37	13	61986877	61986877	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:61986877G>A	ENST00000409186.1	-	5	3460	c.1355C>T	c.(1354-1356)gCg>gTg	p.A452V	PCDH20_ENST00000409204.4_Missense_Mutation_p.A452V			Q8N6Y1	PCD20_HUMAN	protocadherin 20	425	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGTGAAAAACGCAATGGGAGT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	103	103			NA	NA	13		NA											NA				61986877		2203	4300	6503	SO:0001583	missense			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991	64881	64881		Cadherins / Protocadherins : Non-clustered	14257	protein-coding gene	gene with protein product		614449			NA		Standard	NM_022843	NM_022843	NA	Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1355C>T	13.37:g.61986877G>A	ENSP00000386653:p.Ala452Val	NA	B1AQU2|Q8NDN4|Q9NRT9	37	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240802	0.79912	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.60548	0.18;0.18	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000006	T	0.77798	0.4184	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78991	-0.1985	10	0.87932	D	0	.	19.9801	0.97322	0.0:0.0:1.0:0.0	.	452	A8K1K9	.	V	452;452;198	ENSP00000387250:A452V;ENSP00000386653:A452V	ENSP00000351500:A198V	A	-	2	0	PCDH20	60884878	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	9.751000	0.98889	2.808000	0.96608	0.650000	0.86243	GCG	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333054.2		-	ENST00000409186.1	Missense_Mutation	SNP	13 : 61986877 - 61986877 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	432	91
MYO5B	4645	broad.mit.edu	37	18	47373547	47373547	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47373547G>A	ENST00000285039.7	-	33	4727	c.4428C>T	c.(4426-4428)gaC>gaT	p.D1476D	SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Silent_p.D591D|MYO5B_ENST00000592688.1_Silent_p.D46D	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1476					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GGAGGGCCTCGTCCTCTTTGT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	92	89			NA	NA	18		NA											NA				47373547		2122	4219	6341	SO:0001819	synonymous_variant			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306	4645	4645		Myosins / Myosin superfamily : Class V	7603	protein-coding gene	gene with protein product		606540			NA	8884266, 17462998	Standard		NM_001080467	NA	Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.4428C>T	18.37:g.47373547G>A		NA	B0I1R3	37	CCDS42436.1																																																																																			MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448515.2		-	ENST00000285039.7	Silent	SNP	18 : 47373547 - 47373547 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	424	37
NUP54	53371	broad.mit.edu	37	4	77036596	77036596	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77036596C>T	ENST00000514987.1	-	11	1325	c.1303G>A	c.(1303-1305)Gac>Aac	p.D435N	NUP54_ENST00000264883.3_Missense_Mutation_p.D483N|NUP54_ENST00000342467.6_Missense_Mutation_p.D267N|NUP54_ENST00000458189.2_Missense_Mutation_p.D303N			Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	483	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						TCTAGATCGTCTTTAATGATG	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	134	138			NA	NA	4		NA											NA				77036596		2203	4300	6503	SO:0001583	missense			AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750	53371	53371			17359	protein-coding gene	gene with protein product		607607	nucleoporin 54kD		NA	8707840	Standard		NM_017426	NA	Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000514987.1:c.1303G>A	4.37:g.77036596C>T	ENSP00000421304:p.Asp435Asn	NA	B2RCK7|Q96EA7|Q9NVL5|Q9P0I1	37		.	.	.	.	.	.	.	.	.	.	C	34	5.346035	0.95807	.	.	ENSG00000138750	ENST00000264883;ENST00000342467;ENST00000514987;ENST00000458189	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.74023	0.3662	M	0.64997	1.995	0.80722	D	1	D;P;D	0.54207	0.965;0.82;0.965	P;B;P	0.55713	0.782;0.446;0.629	T	0.69803	-0.5046	9	0.37606	T	0.19	-17.7676	20.5792	0.99380	0.0:1.0:0.0:0.0	.	435;267;483	B4DT35;Q7Z3B4-2;Q7Z3B4	.;.;NUP54_HUMAN	N	483;267;435;303	.	ENSP00000264883:D483N	D	-	1	0	NUP54	77255620	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.704000	0.68347	2.873000	0.98535	0.561000	0.74099	GAC	NUP54-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000362699.1		-	ENST00000514987.1	Missense_Mutation	SNP	4 : 77036596 - 77036596 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	264	34
IAH1	285148	broad.mit.edu	37	2	9621566	9621566	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9621566C>T	ENST00000470914.1	+	3	412	c.96C>T	c.(94-96)tgC>tgT	p.C32C	IAH1_ENST00000545602.1_Silent_p.C32C|IAH1_ENST00000482918.1_Silent_p.C32C|IAH1_ENST00000489468.1_3'UTR|IAH1_ENST00000497473.1_Silent_p.C145C			Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)	145					lipid catabolic process		hydrolase activity, acting on ester bonds			breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AAGAACAGTGCATCATACAAG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	49	49			NA	NA	2		NA											NA				9621566		1986	4174	6160	SO:0001819	synonymous_variant			BC111025	CCDS42651.1	2p25.1	2010-08-05			ENSG00000134330	ENSG00000134330	285148	285148			27696	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_001039613	XR_426950	NA	Approved		uc002qzr.3	Q2TAA2	OTTHUMG00000159076	ENST00000470914.1:c.96C>T	2.37:g.9621566C>T		NA		37		.	.	.	.	.	.	.	.	.	.	C	5.483	0.274065	0.10403	.	.	ENSG00000134330	ENST00000481367	.	.	.	5.38	2.56	0.30785	.	.	.	.	.	T	0.59362	0.2188	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54761	-0.8245	4	.	.	.	-28.454	10.0625	0.42284	0.0:0.657:0.0:0.343	.	.	.	.	V	125	.	.	A	+	2	0	IAH1	9539017	0.047000	0.20315	0.040000	0.18447	0.035000	0.12851	0.441000	0.21611	0.753000	0.32945	0.563000	0.77884	GCA	IAH1-001	PUTATIVE	alternative_5_UTR|basic	protein_coding	NA	protein_coding	OTTHUMT00000353190.2		+	ENST00000470914.1	Silent	SNP	2 : 9621566 - 9621566 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	218	39
TMEM98	26022	broad.mit.edu	37	17	31266550	31266550	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:31266550G>A	ENST00000579849.1	+	7	900	c.469G>A	c.(469-471)Gca>Aca	p.A157T	TMEM98_ENST00000578289.1_Intron|TMEM98_ENST00000394642.3_Missense_Mutation_p.A157T	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	157						endoplasmic reticulum|integral to membrane				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			ACTCCTGGACGCACGGTGAGA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	114	123			NA	NA	17		NA											NA				31266550		2203	4300	6503	SO:0001583	missense			CR605381	CCDS11274.1	17q11.2	2005-12-16			ENSG00000006042	ENSG00000006042	26022	26022			24529	protein-coding gene	gene with protein product		615949			NA	11230166	Standard	NM_015544	NM_001301746	NA	Approved	DKFZP564K1964	uc002hhr.3	Q9Y2Y6	OTTHUMG00000132882	ENST00000579849.1:c.469G>A	17.37:g.31266550G>A	ENSP00000463245:p.Ala157Thr	NA	E1P631|Q9UFK2	37	CCDS11274.1	.	.	.	.	.	.	.	.	.	.	G	34	5.301065	0.95601	.	.	ENSG00000006042	ENST00000394642;ENST00000261713;ENST00000439138	T;T	0.43688	0.94;0.94	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.59824	0.2222	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	P	0.62813	0.907	T	0.55927	-0.8063	10	0.46703	T	0.11	-24.2618	17.7902	0.88550	0.0:0.0:1.0:0.0	.	157	Q9Y2Y6	TMM98_HUMAN	T	157	ENSP00000378138:A157T;ENSP00000406394:A157T	ENSP00000261713:A157T	A	+	1	0	TMEM98	28290663	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	9.097000	0.94193	2.813000	0.96785	0.655000	0.94253	GCA	TMEM98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256372.2		+	ENST00000579849.1	Missense_Mutation	SNP	17 : 31266550 - 31266550 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	305	56
RERE	473	broad.mit.edu	37	1	8424198	8424198	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8424198G>A	ENST00000337907.3	-	16	2292	c.1658C>T	c.(1657-1659)cCg>cTg	p.P553L	RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.P553L|RERE_ENST00000476556.1_5'UTR|RERE_ENST00000377464.1_Missense_Mutation_p.P285L	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	553					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GAACATAAACGGTGGCGGGTC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	82	83			NA	NA	1		NA											NA				8424198		2203	4300	6503	SO:0001583	missense			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599	473	473		GATA zinc finger domain containing	9965	protein-coding gene	gene with protein product		605226		ATN1L	NA	10814707, 10729226	Standard		NM_012102	NA	Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.1658C>T	1.37:g.8424198G>A	ENSP00000338629:p.Pro553Leu	NA	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	37	CCDS95.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444138	0.83993	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000400908	T;T;T	0.50548	0.76;0.74;0.76	5.2	5.2	0.72013	.	.	.	.	.	T	0.63022	0.2476	L	0.43923	1.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.64495	-0.6394	9	0.72032	D	0.01	-20.5155	17.9071	0.88921	0.0:0.0:1.0:0.0	.	285;553	B1AKN3;Q9P2R6	.;RERE_HUMAN	L	553;285;553	ENSP00000338629:P553L;ENSP00000366684:P285L;ENSP00000383700:P553L	ENSP00000338629:P553L	P	-	2	0	RERE	8346785	1.000000	0.71417	0.967000	0.41034	0.226000	0.24999	9.212000	0.95126	2.711000	0.92665	0.561000	0.74099	CCG	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000004916.1		-	ENST00000337907.3	Missense_Mutation	SNP	1 : 8424198 - 8424198 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	514	45
TTC21A	199223	broad.mit.edu	37	3	39170682	39170682	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39170682G>A	ENST00000431162.2	+	15	2171	c.2037G>A	c.(2035-2037)gcG>gcA	p.A679A	TTC21A_ENST00000301819.6_Silent_p.A680A|TTC21A_ENST00000440121.1_Silent_p.A631A			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	679							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGGACGTGGCGCTGAACATGC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								A	,	6,4324		0,6,2159	103	105	105		1893,2037	-11.7	0	3		105	0,8530		0,0,4265	no	coding-synonymous,coding-synonymous	TTC21A	NM_001105513.2,NM_145755.2	,	0,6,6424	AA,AG,GG	NA	0.0,0.1386,0.0467	,	631/1273,679/1321	39170682	6,12854	2165	4265	6430	SO:0001819	synonymous_variant			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026	199223	199223		Tetratricopeptide (TTC) repeat domain containing	30761	protein-coding gene	gene with protein product		611430			NA		Standard	NM_145755	NM_145755	NA	Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.2037G>A	3.37:g.39170682G>A		NA	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	37	CCDS46800.1																																																																																			TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377829.1		+	ENST00000431162.2	Silent	SNP	3 : 39170682 - 39170682 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	418	71
ZNF250	58500	broad.mit.edu	37	8	146107485	146107485	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:146107485G>T	ENST00000292579.7	-	6	1214	c.1098C>A	c.(1096-1098)ccC>ccA	p.P366P	ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000417550.2_Silent_p.P361P	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		TGCACGTGTAGGGCTTCTCCC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(16;520 556 24096 40084 43446)							NA				0													121	92	102			NA	NA	8		NA											NA				146107485		2203	4300	6503	SO:0001819	synonymous_variant			AK095705	CCDS34972.1, CCDS55282.1	8q24.3	2013-01-08	2004-11-08			ENSG00000196150	58500	58500		Zinc fingers, C2H2-type, -	13044	protein-coding gene	gene with protein product			zinc finger protein 647	ZNF647	NA	12477932	Standard	NM_021061	NM_021061	NA	Approved	MGC9718, ZFP647	uc003zer.4	P15622		ENST00000292579.7:c.1098C>A	8.37:g.146107485G>T		NA	Q8N942|Q96AH9	37	CCDS34972.1																																																																																			ZNF250-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382968.1		-	ENST00000292579.7	Silent	SNP	8 : 146107485 - 146107485 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	375	74
CYP4F12	66002	broad.mit.edu	37	19	15791299	15791299	+	Silent	SNP	G	G	A	rs141478890		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15791299G>A	ENST00000550308.1	+	5	875	c.495G>A	c.(493-495)acG>acA	p.T165T	CYP4F12_ENST00000324632.10_Silent_p.T165T	NM_023944.3	NP_076433			cytochrome P450, family 4, subfamily F, polypeptide 12	NA								p.T165T(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CCTATATAACGATCTTCAACA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	skin(1)											52	52	52			NA	NA	19		NA											NA				15791299		2203	4300	6503	SO:0001819	synonymous_variant			AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204	66002	66002		Cytochrome P450s	18857	protein-coding gene	gene with protein product		611485	cytochrome P450, subfamily IVF, polypeptide 12		NA	11162607	Standard		NM_023944	NA	Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.495G>A	19.37:g.15791299G>A		NA		37	CCDS42517.1																																																																																			CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378938.9		+	ENST00000550308.1	Silent	SNP	19 : 15791299 - 15791299 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	364	54
MYO15A	51168	broad.mit.edu	37	17	18025661	18025661	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18025661G>T	ENST00000205890.5	+	2	3885	c.3547G>T	c.(3547-3549)Gct>Tct	p.A1183S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1183	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGGCCCTGGAGCTGCCTGCCT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	44	41			NA	NA	17		NA											NA				18025661		2034	4186	6220	SO:0001583	missense			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536	51168	51168		Myosins / Myosin superfamily : Class XV	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15	NA	9603736	Standard	NM_016239	NM_016239	NA	Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.3547G>T	17.37:g.18025661G>T	ENSP00000205890:p.Ala1183Ser	NA		37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	g	13.23	2.173760	0.38413	.	.	ENSG00000091536	ENST00000205890	D	0.87729	-2.29	5.22	2.93	0.34026	.	.	.	.	.	T	0.79505	0.4457	L	0.38175	1.15	0.18873	N	0.999984	B	0.20261	0.043	B	0.16722	0.016	T	0.66488	-0.5911	9	0.36615	T	0.2	.	7.1014	0.25340	0.2546:0.0:0.7454:0.0	.	1183	Q9UKN7	MYO15_HUMAN	S	1183	ENSP00000205890:A1183S	ENSP00000205890:A1183S	A	+	1	0	MYO15A	17966386	0.002000	0.14202	0.006000	0.13384	0.214000	0.24535	0.483000	0.22292	0.949000	0.37715	0.561000	0.74099	GCT	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132048.1		+	ENST00000205890.5	Missense_Mutation	SNP	17 : 18025661 - 18025661 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	426	68
SLC17A3	10786	broad.mit.edu	37	6	25862211	25862211	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25862211C>T	ENST00000397060.4	-	4	459	c.350G>A	c.(349-351)gGt>gAt	p.G117D	SLC17A3_ENST00000360657.3_Intron|SLC17A3_ENST00000361703.6_Intron	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	0					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						GCCAACAGCACCAAAGATGAT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ASP/GLY,	0,4174		0,0,2087	79	77	77		350,	0.7	0	6		77	1,8427		0,1,4213	no	missense,intron	SLC17A3	NM_001098486.1,NM_006632.3	94,	0,1,6300	TT,TC,CC	NA	0.0119,0.0,0.0079	benign,	117/499,	25862211	1,12601	2087	4214	6301	SO:0001583	missense			U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564	10786	10786		Solute carriers	10931	protein-coding gene	gene with protein product		611034	solute carrier family 17 (sodium phosphate), member 3		NA	9149941	Standard		NM_006632	NA	Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000397060.4:c.350G>A	6.37:g.25862211C>T	ENSP00000380250:p.Gly117Asp	NA	B7WNJ5|Q8WWC7|Q9H533	37	CCDS47385.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.340078	0.24339	0.0	1.19E-4	ENSG00000124564	ENST00000397060	T	0.59083	0.29	3.58	0.663	0.17885	.	.	.	.	.	T	0.61714	0.2369	M	0.86097	2.795	0.09310	N	1	P;D	0.56521	0.741;0.976	P;D	0.67548	0.593;0.952	T	0.51764	-0.8664	9	0.72032	D	0.01	.	6.6588	0.23002	0.1934:0.43:0.3766:0.0	.	98;117	B7Z3L7;B7Z511	.;.	D	117	ENSP00000380250:G117D	ENSP00000380250:G117D	G	-	2	0	SLC17A3	25970190	0.001000	0.12720	0.000000	0.03702	0.039000	0.13416	0.792000	0.26929	0.106000	0.17784	0.563000	0.77884	GGT	SLC17A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040071.5		-	ENST00000397060.4	Missense_Mutation	SNP	6 : 25862211 - 25862211 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	93	18
NEURL2	140825	broad.mit.edu	37	20	44519145	44519145	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44519145G>A	ENST00000372518.4	-	1	781	c.486C>T	c.(484-486)cgC>cgT	p.R162R		NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	162	NHR.				intracellular signal transduction					large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				CTGGCCGGCTGCGGCCCACCA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	41	39			NA	NA	20		NA											NA				44519145		2202	4294	6496	SO:0001819	synonymous_variant			AL008726	CCDS13384.1	20q13.12	2013-10-24	2013-10-24	2004-02-27	ENSG00000124257	ENSG00000124257	140825	140825			16156	protein-coding gene	gene with protein product		608597	chromosome 20 open reading frame 163, neuralized-like 2 (Drosophila), neuralized homolog 2 (Drosophila)	C20orf163	NA	12076535, 19723503	Standard		NM_001278535	NA	Approved	dJ337O18.6, FLJ30259, Ozz, Ozz-E3	uc002xqg.2	Q9BR09	OTTHUMG00000032626	ENST00000372518.4:c.486C>T	20.37:g.44519145G>A		NA	Q3KR34	37	CCDS13384.1																																																																																			NEURL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079539.2		-	ENST00000372518.4	Silent	SNP	20 : 44519145 - 44519145 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	587	110
TRPV2	51393	broad.mit.edu	37	17	16336966	16336966	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16336966G>A	ENST00000338560.7	+	13	2467	c.2068G>A	c.(2068-2070)Gtt>Att	p.V690I	TRPV2_ENST00000577397.1_Missense_Mutation_p.V260I	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	690					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GATGCTGACCGTTGGCACTAA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	121	127			NA	NA	17		NA											NA				16336966		2203	4300	6503	SO:0001583	missense			AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688	51393	51393		Voltage-gated ion channels / Transient receptor potential cation channels, Ankyrin repeat domain containing	18082	protein-coding gene	gene with protein product		606676			NA	10201375, 16382100	Standard	NM_016113	NM_016113	NA	Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.2068G>A	17.37:g.16336966G>A	ENSP00000342222:p.Val690Ile	NA	A6NML2|A8K0Z0|Q9Y670	37	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.846704	0.32606	.	.	ENSG00000187688	ENST00000338560	D	0.90324	-2.65	5.79	5.79	0.91817	.	0.058083	0.64402	D	0.000002	D	0.86322	0.5905	L	0.32530	0.975	0.54753	D	0.999981	P	0.34815	0.47	B	0.33521	0.165	D	0.84716	0.0737	10	0.36615	T	0.2	-24.5954	17.5351	0.87827	0.0:0.0:1.0:0.0	.	690	Q9Y5S1	TRPV2_HUMAN	I	690	ENSP00000342222:V690I	ENSP00000342222:V690I	V	+	1	0	TRPV2	16277691	1.000000	0.71417	0.182000	0.23118	0.116000	0.19942	5.992000	0.70609	2.751000	0.94390	0.650000	0.86243	GTT	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130464.2		+	ENST00000338560.7	Missense_Mutation	SNP	17 : 16336966 - 16336966 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	559	97
COL14A1	7373	broad.mit.edu	37	8	121262977	121262977	+	Silent	SNP	C	C	T	rs113536778		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:121262977C>T	ENST00000297848.3	+	22	2994	c.2724C>T	c.(2722-2724)agC>agT	p.S908S	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Silent_p.S813S|COL14A1_ENST00000309791.4_Silent_p.S908S	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	908	Fibronectin type-III 7.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAGGCTTCAGCGACGCCCTGA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	81	72	75		2724	-1.8	0.9	8	dbSNP_132	75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	COL14A1	NM_021110.1		0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077		908/1797	121262977	1,13005	2203	4300	6503	SO:0001819	synonymous_variant				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955	7373	7373		Collagens, Fibronectin type III domain containing	2191	protein-coding gene	gene with protein product		120324	undulin	UND	NA	1716629, 9427527	Standard	NM_021110	NM_021110	NA	Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2724C>T	8.37:g.121262977C>T		NA	B2RU07|O00260|O00261|O00262|Q05708|Q5XJ18|Q96C67|Q9UDF6	37	CCDS34938.1																																																																																			COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313657.2		+	ENST00000297848.3	Silent	SNP	8 : 121262977 - 121262977 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	267	48
KRT80	144501	broad.mit.edu	37	12	52567487	52567487	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52567487C>T	ENST00000313234.5	-	5	825	c.728G>A	c.(727-729)cGc>cAc	p.R243H	KRT80_ENST00000394815.2_Missense_Mutation_p.R243H	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	243	Linker 12.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		GATGTGGCAGCGGCTGTCCAT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(178;2309 2916 15678 35873)							NA				0													74	62	66			NA	NA	12		NA											NA				52567487		2203	4298	6501	SO:0001583	missense			BX537567	CCDS8821.2, CCDS41784.1	12q13.13	2013-01-16			ENSG00000167767	ENSG00000167767	144501	144501		-, Intermediate filaments type II, keratins (basic)	27056	protein-coding gene	gene with protein product		611161			NA	16831889	Standard	NM_182507	NM_001081492	NA	Approved	KB20	uc001rzx.3	Q6KB66	OTTHUMG00000150193	ENST00000313234.5:c.728G>A	12.37:g.52567487C>T	ENSP00000369361:p.Arg243His	NA	Q6P1A5|Q7Z3Q0	37	CCDS41784.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137927	0.56936	.	.	ENSG00000167767	ENST00000313234;ENST00000394815	T;T	0.75589	-0.95;-0.95	4.23	2.39	0.29439	Filament (1);	0.201326	0.25040	N	0.033609	T	0.60301	0.2258	N	0.12182	0.205	0.30603	N	0.760335	B;B;D	0.64830	0.008;0.009;0.994	B;B;P	0.51415	0.003;0.005;0.669	T	0.61763	-0.6996	10	0.87932	D	0	.	4.1464	0.10217	0.0:0.3747:0.3399:0.2853	.	243;243;278	Q6KB66-2;Q6KB66;Q6KB66-3	.;K2C80_HUMAN;.	H	243	ENSP00000369361:R243H;ENSP00000378292:R243H	ENSP00000369361:R243H	R	-	2	0	KRT80	50853754	0.878000	0.30173	0.998000	0.56505	0.526000	0.34562	0.185000	0.16958	0.560000	0.29169	-1.149000	0.01842	CGC	KRT80-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316756.1		-	ENST00000313234.5	Missense_Mutation	SNP	12 : 52567487 - 52567487 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	513	80
DNMT1	1786	broad.mit.edu	37	19	10270737	10270737	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10270737G>A	ENST00000340748.4	-	14	1233	c.998C>T	c.(997-999)aCg>aTg	p.T333M	DNMT1_ENST00000359526.4_Missense_Mutation_p.T349M|DNMT1_ENST00000540357.1_Missense_Mutation_p.T333M			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	333	DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TTTTTTCTCCGTTCTGGGGGA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	68	64			NA	NA	19		NA											NA				10270737		2190	4289	6479	SO:0001583	missense			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	1786	1786	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT	NA	1594447	Standard	NM_001379	NM_001379	NA	Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.998C>T	19.37:g.10270737G>A	ENSP00000345739:p.Thr333Met	NA	A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	37	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.419248	0.25552	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.80824	-1.42;1.4;1.4	4.2	-3.26	0.05064	.	1.842200	0.02527	N	0.093187	T	0.64832	0.2634	N	0.19112	0.55	0.09310	N	1	B;B;B	0.13145	0.007;0.007;0.004	B;B;B	0.09377	0.004;0.004;0.002	T	0.50171	-0.8859	10	0.48119	T	0.1	.	3.1146	0.06370	0.3659:0.0:0.3289:0.3052	.	333;349;333	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	M	349;333;333;201	ENSP00000352516:T349M;ENSP00000440457:T333M;ENSP00000345739:T333M	ENSP00000345739:T333M	T	-	2	0	DNMT1	10131737	0.000000	0.05858	0.000000	0.03702	0.272000	0.26649	-1.764000	0.01800	-0.456000	0.07043	0.650000	0.86243	ACG	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451166.1		-	ENST00000340748.4	Missense_Mutation	SNP	19 : 10270737 - 10270737 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	874	38
COL6A2	1292	broad.mit.edu	37	21	47552344	47552344	+	Missense_Mutation	SNP	G	G	A	rs140020002		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47552344G>A	ENST00000300527.4	+	28	3042	c.2938G>A	c.(2938-2940)Gtg>Atg	p.V980M		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	980	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGGCAGCGACGTGGACATGGA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/VAL	2,4402	4.2+/-10.8	0,2,2200	70	58	62		2938	4.4	1	21	dbSNP_134	62	0,8600		0,0,4300	no	missense	COL6A2	NM_001849.3	21	0,2,6500	AA,AG,GG	NA	0.0,0.0454,0.0154	probably-damaging	980/1020	47552344	2,13002	2202	4300	6502	SO:0001583	missense			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173	NA	1292		Collagens	2212	protein-coding gene	gene with protein product		120240			NA		Standard		NM_001849	NA	Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2938G>A	21.37:g.47552344G>A	ENSP00000300527:p.Val980Met	NA	Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	37	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717812	0.30413	4.54E-4	0.0	ENSG00000142173	ENST00000300527	T	0.80393	-1.37	4.4	4.4	0.53042	von Willebrand factor, type A (3);	0.388276	0.26069	N	0.026522	D	0.86887	0.6041	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.87150	0.2208	10	0.56958	D	0.05	-16.4704	10.6536	0.45663	0.0893:0.0:0.9107:0.0	.	980	P12110	CO6A2_HUMAN	M	980	ENSP00000300527:V980M	ENSP00000300527:V980M	V	+	1	0	COL6A2	46376772	1.000000	0.71417	0.994000	0.49952	0.290000	0.27261	5.117000	0.64667	2.001000	0.58596	0.297000	0.19635	GTG	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206971.1		+	ENST00000300527.4	Missense_Mutation	SNP	21 : 47552344 - 47552344 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	198	38
COL21A1	81578	broad.mit.edu	37	6	56035650	56035650	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56035650C>T	ENST00000244728.5	-	5	1220	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	COL21A1_ENST00000535941.1_Missense_Mutation_p.E275K|COL21A1_ENST00000370819.1_Missense_Mutation_p.E275K	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	275	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GGAAGACCTTCTGGGAAAACA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	62	65			NA	NA	6		NA											NA				56035650		1819	4075	5894	SO:0001583	missense			AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749	NA	81578		Collagens	17025	protein-coding gene	gene with protein product		610002			NA	11566190	Standard		XR_241922	NA	Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.823G>A	6.37:g.56035650C>T	ENSP00000244728:p.Glu275Lys	NA	A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	37	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923244	0.73213	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	T;T;T	0.15603	2.41;2.41;2.41	4.66	4.66	0.58398	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.52532	U	0.000071	T	0.25306	0.0615	L	0.60455	1.87	0.80722	D	1	D;D	0.69078	0.993;0.997	P;D	0.73380	0.879;0.98	T	0.03221	-1.1059	10	0.16896	T	0.51	.	17.5385	0.87840	0.0:1.0:0.0:0.0	.	275;275	Q96P44-3;Q96P44	.;COLA1_HUMAN	K	275	ENSP00000244728:E275K;ENSP00000359855:E275K;ENSP00000444384:E275K	ENSP00000244728:E275K	E	-	1	0	COL21A1	56143609	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.235000	0.78143	2.126000	0.65437	0.591000	0.81541	GAA	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041004.2		-	ENST00000244728.5	Missense_Mutation	SNP	6 : 56035650 - 56035650 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	81	22
FRMPD1	22844	broad.mit.edu	37	9	37735568	37735568	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37735568A>G	ENST00000539465.1	+	13	1831	c.1238A>G	c.(1237-1239)tAc>tGc	p.Y413C	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Missense_Mutation_p.Y235C|FRMPD1_ENST00000377765.3_Missense_Mutation_p.Y413C|FRMPD1_ENST00000541302.1_Missense_Mutation_p.Y282C			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	413	FERM.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AGAGAATCCTACATTGCCCTT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	133	137			NA	NA	9		NA											NA				37735568		2203	4300	6503	SO:0001583	missense			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601	22844	22844			29159	protein-coding gene	gene with protein product					NA	10231032	Standard	NM_014907	NM_014907	NA	Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.1238A>G	9.37:g.37735568A>G	ENSP00000444411:p.Tyr413Cys	NA	D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	37	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	A	12.04	1.818001	0.32145	.	.	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	5.74	4.61	0.57282	FERM domain (1);	0.173638	0.52532	D	0.000066	T	0.09423	0.0232	L	0.36672	1.1	0.46849	D	0.99922	B;B	0.14012	0.001;0.009	B;B	0.09377	0.002;0.004	T	0.11842	-1.0571	10	0.38643	T	0.18	-9.5643	9.9939	0.41887	0.92:0.0:0.08:0.0	.	282;413	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	C	413;413;235;282	ENSP00000366995:Y413C;ENSP00000444411:Y413C;ENSP00000437762:Y235C;ENSP00000444804:Y282C	ENSP00000366995:Y413C	Y	+	2	0	FRMPD1	37725568	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.063000	0.41423	1.011000	0.39340	0.533000	0.62120	TAC	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402969.1		+	ENST00000539465.1	Missense_Mutation	SNP	9 : 37735568 - 37735568 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	529	91
ZNF607	84775	broad.mit.edu	37	19	38190380	38190380	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38190380A>G	ENST00000355202.4	-	5	1247	c.652T>C	c.(652-654)Ttt>Ctt	p.F218L	ZNF607_ENST00000395835.3_Missense_Mutation_p.F217L|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CCATAATGAAATCTATGATGT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	105	105			NA	NA	19		NA											NA				38190380		2203	4300	6503	SO:0001583	missense			AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182	84775	84775		Zinc fingers, C2H2-type, -	28192	protein-coding gene	gene with protein product					NA	14702039	Standard	NM_032689	NM_032689	NA	Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.652T>C	19.37:g.38190380A>G	ENSP00000347338:p.Phe218Leu	NA	Q6ZMN4|Q96C40	37	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.355955	0.41700	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.17370	2.28;2.28	1.91	0.798	0.18660	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06872	0.0175	N	0.04355	-0.22	0.09310	N	0.999999	B;B	0.16603	0.002;0.018	B;B	0.10450	0.005;0.002	T	0.33240	-0.9876	9	0.54805	T	0.06	.	3.1323	0.06428	0.2608:0.0:0.1952:0.544	.	218;217	Q96SK3;F5H141	ZN607_HUMAN;.	L	218;217	ENSP00000347338:F218L;ENSP00000438015:F217L	ENSP00000347338:F218L	F	-	1	0	ZNF607	42882220	0.000000	0.05858	0.244000	0.24202	0.343000	0.28985	0.283000	0.18846	-0.034000	0.13713	0.459000	0.35465	TTT	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459502.2		-	ENST00000355202.4	Missense_Mutation	SNP	19 : 38190380 - 38190380 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	567	111
TOP3A	7156	broad.mit.edu	37	17	18198077	18198077	+	Missense_Mutation	SNP	C	C	T	rs145416998		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18198077C>T	ENST00000321105.5	-	10	1227	c.1013G>A	c.(1012-1014)cGa>cAa	p.R338Q	TOP3A_ENST00000542570.1_Missense_Mutation_p.R243Q|TOP3A_ENST00000540524.1_5'UTR	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	338					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						TCTCAACTTTCGAGAAGCCAG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	106	96	100		1013	5.2	1	17	dbSNP_134	100	0,8600		0,0,4300	no	missense	TOP3A	NM_004618.3	43	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging	338/1002	18198077	1,13005	2203	4300	6503	SO:0001583	missense			U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302	7156	7156			11992	protein-coding gene	gene with protein product	zinc finger, GRF-type containing 7	601243		TOP3	NA	9450867	Standard		NM_004618	NA	Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.1013G>A	17.37:g.18198077C>T	ENSP00000321636:p.Arg338Gln	NA	A8KA61|D3DXC7|Q13473	37	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669499	0.67814	2.27E-4	0.0	ENSG00000177302	ENST00000321105;ENST00000542570	T;T	0.24538	1.85;1.85	5.25	5.25	0.73442	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central region, subdomain 3 (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.59211	0.2177	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.66093	-0.6009	10	0.72032	D	0.01	-15.5167	19.1963	0.93690	0.0:1.0:0.0:0.0	.	243;338	B4DK80;Q13472	.;TOP3A_HUMAN	Q	338;243	ENSP00000321636:R338Q;ENSP00000442336:R243Q	ENSP00000321636:R338Q	R	-	2	0	TOP3A	18138802	1.000000	0.71417	0.979000	0.43373	0.992000	0.81027	7.692000	0.84203	2.610000	0.88304	0.591000	0.81541	CGA	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132052.2		-	ENST00000321105.5	Missense_Mutation	SNP	17 : 18198077 - 18198077 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	65
CNTRL	11064	broad.mit.edu	37	9	123906201	123906201	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123906201A>C	ENST00000373855.1	+	20	3152	c.2892A>C	c.(2890-2892)aaA>aaC	p.K964N	CNTRL_ENST00000373847.1_Missense_Mutation_p.K412N|CNTRL_ENST00000238341.5_Missense_Mutation_p.K964N|CNTRL_ENST00000373850.1_Missense_Mutation_p.K412N			Q7Z7A1	CNTRL_HUMAN	centriolin	964					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AAGATGCCAAATCTCAGGAGC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	34	33			NA	NA	9		NA											NA				123906201		2203	4300	6503	SO:0001583	missense			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397	11064	11064			1858	protein-coding gene	gene with protein product		605496	centrosomal protein 1, centrosomal protein 110kDa	CEP1, CEP110	NA	10688839	Standard	NM_007018	XM_005251679	NA	Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.2892A>C	9.37:g.123906201A>C	ENSP00000362962:p.Lys964Asn	NA	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	37	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	A	15.97	2.990236	0.54041	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000373851;ENST00000373850;ENST00000373847	T;T;T;T	0.30714	1.52;1.52;1.52;2.53	5.96	-0.306	0.12780	.	.	.	.	.	T	0.17831	0.0428	N	0.14661	0.345	0.22851	N	0.998659	P;B	0.35272	0.493;0.361	B;B	0.35607	0.206;0.102	T	0.20672	-1.0268	9	0.46703	T	0.11	.	9.4871	0.38937	0.4888:0.0:0.5112:0.0	.	964;964	F5GZN0;Q7Z7A1	.;CNTRL_HUMAN	N	964;964;964;446;412;412	ENSP00000362962:K964N;ENSP00000238341:K964N;ENSP00000362956:K412N;ENSP00000362953:K412N	ENSP00000238341:K964N	K	+	3	2	CNTRL	122946022	0.997000	0.39634	0.994000	0.49952	0.998000	0.95712	1.085000	0.30840	0.140000	0.18849	0.533000	0.62120	AAA	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250216.1		+	ENST00000373855.1	Missense_Mutation	SNP	9 : 123906201 - 123906201 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	264	39
CSPG4	1464	broad.mit.edu	37	15	75980750	75980750	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75980750G>A	ENST00000308508.5	-	3	2748	c.2656C>T	c.(2656-2658)Ctc>Ttc	p.L886F		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	886	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AAGGTATAGAGTGGGGAGAAA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	59	59			NA	NA	15		NA											NA				75980750		2197	4294	6491	SO:0001583	missense			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546	1464	1464		Proteoglycans / Cell surface : Other	2466	protein-coding gene	gene with protein product	melanoma-associated chondroitin sulfate proteoglycan	601172	chondroitin sulfate proteoglycan 4 (melanoma-associated)		NA	8790396, 16407841	Standard	NM_001897	NM_001897	NA	Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.2656C>T	15.37:g.75980750G>A	ENSP00000312506:p.Leu886Phe	NA	D3DW77|Q92675	37	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	3.860	-0.030019	0.07543	.	.	ENSG00000173546	ENST00000308508	T	0.20069	2.1	5.02	3.12	0.35913	.	0.228408	0.29225	N	0.012762	T	0.23014	0.0556	L	0.56769	1.78	0.22851	N	0.998654	P	0.42409	0.779	B	0.42462	0.388	T	0.07443	-1.0772	10	0.56958	D	0.05	.	9.0331	0.36271	0.0835:0.4142:0.5023:0.0	.	886	Q6UVK1	CSPG4_HUMAN	F	886	ENSP00000312506:L886F	ENSP00000312506:L886F	L	-	1	0	CSPG4	73767805	0.109000	0.22037	0.492000	0.27490	0.155000	0.21991	0.496000	0.22499	0.499000	0.27970	-0.145000	0.13849	CTC	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286472.1		-	ENST00000308508.5	Missense_Mutation	SNP	15 : 75980750 - 75980750 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	319	56
DENND4A	10260	broad.mit.edu	37	15	66044893	66044893	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66044893C>T	ENST00000443035.3	-	4	600	c.385G>A	c.(385-387)Gca>Aca	p.A129T	DENND4A_ENST00000431932.2_Missense_Mutation_p.A129T	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	129	MABP.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CTAATATTTGCGGGGCGCCCA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	53	54			NA	NA	15		NA											NA				66044893		1820	4069	5889	SO:0001583	missense			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27			10260	10260		DENN/MADD domain containing	24321	protein-coding gene	gene with protein product		600382	c-myc promoter binding protein	MYCPBP	NA	8056341, 12906859	Standard	NM_005848	NM_005848	NA	Approved	IRLB	uc002api.3	Q7Z401		ENST00000443035.3:c.385G>A	15.37:g.66044893C>T	ENSP00000391167:p.Ala129Thr	NA	Q14655|Q86T77|Q8IVX2|Q8NB93	37	CCDS53949.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635091	0.67130	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.26810	1.71;1.71	5.1	4.19	0.49359	MABP domain (1);	0.054418	0.64402	N	0.000001	T	0.52484	0.1737	M	0.80183	2.485	0.80722	D	1	P;D;D	0.89917	0.945;1.0;1.0	P;D;D	0.87578	0.621;0.998;0.997	T	0.59616	-0.7421	10	0.87932	D	0	.	13.7123	0.62675	0.0:0.9252:0.0:0.0748	.	129;129;129	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	T	129	ENSP00000391167:A129T;ENSP00000396830:A129T	ENSP00000396830:A129T	A	-	1	0	DENND4A	63831947	1.000000	0.71417	0.998000	0.56505	0.176000	0.22953	7.747000	0.85070	1.268000	0.44264	0.563000	0.77884	GCA	DENND4A-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419609.1		-	ENST00000443035.3	Missense_Mutation	SNP	15 : 66044893 - 66044893 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	107	17
HTR4	3360	broad.mit.edu	37	5	147863911	147863911	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147863911C>T	ENST00000360693.3	-	7	1246	c.1108G>A	c.(1108-1110)Gca>Aca	p.A370T	HTR4_ENST00000354217.2_Intron|HTR4_ENST00000520514.1_Intron|HTR4_ENST00000314512.6_Intron|HTR4_ENST00000362016.2_Intron|HTR4_ENST00000377888.3_Intron|HTR4_ENST00000521735.1_Intron|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000517929.1_Intron	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	359					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	CAATACCTTGCTAAAATGTCT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(120;370 1604 14007 17804 41573)							NA				0													77	78	77			NA	NA	5		NA											NA				147863911		2203	4300	6503	SO:0001583	missense			Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270	3360	3360		5-HT (serotonin) receptors, GPCR / Class A : 5-HT (serotonin) receptors, GPCR only	5299	protein-coding gene	gene with protein product		602164	5-hydroxytryptamine (serotonin) receptor 4		NA	9371406, 9276448	Standard	NM_000870	NM_199453	NA	Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000360693.3:c.1108G>A	5.37:g.147863911C>T	ENSP00000353915:p.Ala370Thr	NA	Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	37	CCDS34272.1	.	.	.	.	.	.	.	.	.	.	C	8.689	0.906999	0.17833	.	.	ENSG00000164270	ENST00000360693	T	0.71461	-0.57	3.94	0.0902	0.14462	.	35.803200	0.00166	N	0.000000	T	0.51958	0.1705	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31998	-0.9923	9	0.15499	T	0.54	.	6.2857	0.21031	0.0:0.5463:0.0:0.4537	.	370	Q712M9	.	T	370	ENSP00000353915:A370T	ENSP00000353915:A370T	A	-	1	0	HTR4	147844104	0.002000	0.14202	0.002000	0.10522	0.095000	0.18619	-0.379000	0.07437	-0.002000	0.14469	0.650000	0.86243	GCA	HTR4-008	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374173.2		-	ENST00000360693.3	Missense_Mutation	SNP	5 : 147863911 - 147863911 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	48
ZNF496	84838	broad.mit.edu	37	1	247463849	247463849	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247463849C>T	ENST00000294753.4	-	9	2200	c.1736G>A	c.(1735-1737)cGt>cAt	p.R579H	ZNF496_ENST00000366498.2_Missense_Mutation_p.R615H|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	579					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CTGCTTGGAACGGCGCTTCAT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	45	45			NA	NA	1		NA											NA				247463849		2203	4300	6503	SO:0001583	missense			BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714	84838	84838		Zinc fingers, C2H2-type, -, -, -	23713	protein-coding gene	gene with protein product		613911			NA	12477932	Standard	NM_032752	NM_032752	NA	Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1736G>A	1.37:g.247463849C>T	ENSP00000294753:p.Arg579His	NA	Q8TBS2	37	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873351	0.72180	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.08193	3.13;3.12	4.32	4.32	0.51571	Zinc finger, C2H2 (1);	0.000000	0.50627	D	0.000102	T	0.25158	0.0611	M	0.88310	2.945	0.36444	D	0.865651	D;D	0.69078	0.994;0.997	P;P	0.54965	0.674;0.765	T	0.31081	-0.9956	10	0.62326	D	0.03	-40.1058	10.5324	0.44983	0.0:0.8032:0.1968:0.0	.	615;579	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	H	579;615	ENSP00000294753:R579H;ENSP00000355454:R615H	ENSP00000294753:R579H	R	-	2	0	ZNF496	245530472	0.992000	0.36948	1.000000	0.80357	0.957000	0.61999	0.839000	0.27586	2.388000	0.81334	0.591000	0.81541	CGT	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000098655.2		-	ENST00000294753.4	Missense_Mutation	SNP	1 : 247463849 - 247463849 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	81
NTRK3	4916	broad.mit.edu	37	15	88420315	88420315	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:88420315G>A	ENST00000394480.2	-	19	2650	c.2329C>T	c.(2329-2331)Cgg>Tgg	p.R777W	NTRK3_ENST00000357724.2_Missense_Mutation_p.R783W|NTRK3_ENST00000557856.1_Missense_Mutation_p.R769W|NTRK3_ENST00000355254.2_Missense_Mutation_p.R777W|NTRK3_ENST00000360948.2_Missense_Mutation_p.R791W	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	NA	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			ACTCGGGGCCGCTCCAAAACA	0.527		NA	T	ETV6	congenital fibrosarcoma, Secretory breast 					TSP Lung(13;0.10)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		15	15q25	4916	neurotrophic tyrosine kinase, receptor, type 3		E, M	0													78	67	70			NA	NA	15		NA											NA				88420315		2201	4299	6500	SO:0001583	missense			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	4916	4916	2.7.10.1	Immunoglobulin superfamily / I-set domain containing	8033	protein-coding gene	gene with protein product		191316			NA	7806211	Standard		NM_001012338	NA	Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000394480.2:c.2329C>T	15.37:g.88420315G>A	ENSP00000377990:p.Arg777Trp	NA	O75682|Q12827|Q16289	37	CCDS10340.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.873862	0.72180	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	5.58	2.28	0.28536	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87478	0.6187	L	0.51422	1.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.995;0.999	D	0.87664	0.2536	10	0.87932	D	0	.	13.2102	0.59819	0.0:0.0:0.2524:0.7476	.	769;777;791	B7Z4C5;Q16288-3;Q16288	.;.;NTRK3_HUMAN	W	777;791;783;777	ENSP00000377990:R777W;ENSP00000354207:R791W;ENSP00000350356:R783W;ENSP00000347397:R777W	ENSP00000347397:R777W	R	-	1	2	NTRK3	86221319	0.317000	0.24589	1.000000	0.80357	0.989000	0.77384	0.025000	0.13577	0.645000	0.30675	0.561000	0.74099	CGG	NTRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000309066.2		-	ENST00000394480.2	Missense_Mutation	SNP	15 : 88420315 - 88420315 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	272	45
TYRP1	7306	broad.mit.edu	37	9	12709023	12709023	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:12709023C>A	ENST00000388918.5	+	8	1584	c.1455C>A	c.(1453-1455)ggC>ggA	p.G485G	TYRP1_ENST00000381136.2_Silent_p.G195G|TYRP1_ENST00000473504.1_3'UTR|TYRP1_ENST00000381137.2_Silent_p.G194G|RP11-3L8.3_ENST00000417638.1_RNA	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	485					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		CAGTAGTTGGCGCTTTGTTAC	0.403		NA							Oculocutaneous Albinism					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													189	175	180			NA	NA	9		NA											NA				12709023		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database		L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165	7306	7306			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2	NA	9434945	Standard	NM_000550	NM_000550	NA	Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.1455C>A	9.37:g.12709023C>A		NA	P78468|P78469|Q13721|Q15679	37	CCDS34990.1																																																																																			TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055502.3		+	ENST00000388918.5	Silent	SNP	9 : 12709023 - 12709023 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	284	10
SPTLC3	55304	broad.mit.edu	37	20	13140662	13140662	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13140662G>A	ENST00000399002.2	+	11	1702	c.1428G>A	c.(1426-1428)agG>agA	p.R476R	SPTLC3_ENST00000378194.4_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	476					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	CTTTTGCAAGGCATATGCTAG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	81	81			NA	NA	20		NA											NA				13140662		1798	4080	5878	SO:0001819	synonymous_variant			AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	55304	55304	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	chromosome 20 open reading frame 38, serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)	C20orf38, SPTLC2L	NA	17023427	Standard	NM_018327	NM_018327	NA	Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.1428G>A	20.37:g.13140662G>A		NA	A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	37	CCDS13115.2	.	.	.	.	.	.	.	.	.	.	G	7.554	0.663322	0.14710	.	.	ENSG00000172296	ENST00000431275	.	.	.	5.84	-2.71	0.05986	.	.	.	.	.	T	0.58221	0.2107	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57985	-0.7716	4	.	.	.	-19.6967	12.6826	0.56930	0.7065:0.0:0.2935:0.0	.	.	.	.	D	74	.	.	G	+	2	0	SPTLC3	13088662	0.246000	0.23909	0.499000	0.27577	0.783000	0.44284	-0.119000	0.10676	-0.325000	0.08577	-0.768000	0.03414	GGC	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254544.1		+	ENST00000399002.2	Silent	SNP	20 : 13140662 - 13140662 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	586	93
PI4K2A	55361	broad.mit.edu	37	10	99422666	99422666	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99422666C>T	ENST00000370631.3	+	5	982	c.925C>T	c.(925-927)Cga>Tga	p.R309*	PI4K2A_ENST00000555577.1_Nonsense_Mutation_p.R279*|PI4K2A_ENST00000370649.3_Nonsense_Mutation_p.R279*	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	309	PI3K/PI4K.				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		GTTCACAGATCGAGGCAATGA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	131	134			NA	NA	10		NA											NA				99422666		2203	4300	6503	SO:0001587	stop_gained			AF070611	CCDS7469.1	10q24	2011-02-09			ENSG00000155252	ENSG00000155252	55361	55361			30031	protein-coding gene	gene with protein product		609763			NA	11244087, 11279162	Standard	NM_018425	NM_018425	NA	Approved	PI4KII, DKFZP761G1923, PIK42A	uc001kog.1	Q9BTU6	OTTHUMG00000018863	ENST00000370631.3:c.925C>T	10.37:g.99422666C>T	ENSP00000359665:p.Arg309*	NA	D3DR59|Q9NSG8	37	CCDS7469.1	.	.	.	.	.	.	.	.	.	.	C	39	7.404835	0.98262	.	.	ENSG00000155252;ENSG00000155252;ENSG00000249967	ENST00000555577;ENST00000370631;ENST00000370649	.	.	.	5.41	4.45	0.53987	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8168	13.9095	0.63857	0.2602:0.7398:0.0:0.0	.	.	.	.	X	279;309;279	.	ENSP00000359665:R309X	R	+	1	2	PI4K2A;RP11-548K23.11	99412656	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	1.043000	0.30316	2.700000	0.92200	0.655000	0.94253	CGA	PI4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049735.1		+	ENST00000370631.3	Nonsense_Mutation	SNP	10 : 99422666 - 99422666 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	484	84
MARK4	57787	broad.mit.edu	37	19	45805679	45805679	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45805679G>A	ENST00000300843.4	+	18	2347	c.2050G>A	c.(2050-2052)Gat>Aat	p.D684N	MARK4_ENST00000262891.4_Missense_Mutation_p.R657Q	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	0					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CGGCTGCTCCGATTCCCCTGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	166	163			NA	NA	19		NA											NA				45805679		2203	4300	6503	SO:0001583	missense			AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	57787	57787	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	MAP/microtubule affinity-regulating kinase like 1	MARKL1	NA	23400999, 11326310, 9108484	Standard	NM_031417	NM_001199867	NA	Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000300843.4:c.2050G>A	19.37:g.45805679G>A	ENSP00000300843:p.Asp684Asn	NA	Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	37	CCDS12658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	3.997807|3.997807	0.74818|0.74818	.|.	.|.	ENSG00000007047|ENSG00000007047	ENST00000300843|ENST00000262891	T|T	0.72051|0.53206	-0.62|0.63	5.4|5.4	4.35|4.35	0.52113|0.52113	.|Kinase-associated KA1 (2);	.|0.106561	.|0.40728	.|N	.|0.001033	T|T	0.51941|0.51941	0.1704|0.1704	M|M	0.72894|0.72894	2.215|2.215	0.26359|0.26359	N|N	0.977081|0.977081	D|D	0.56746|0.61080	0.977|0.989	P|P	0.46510|0.45377	0.519|0.478	T|T	0.55159|0.55159	-0.8184|-0.8184	9|10	0.87932|0.87932	D|D	0|0	.|.	14.0502|14.0502	0.64732|0.64732	0.0:0.1519:0.8481:0.0|0.0:0.1519:0.8481:0.0	.|.	684|657	Q96L34-2|Q96L34	.|MARK4_HUMAN	N|Q	684|657	ENSP00000300843:D684N|ENSP00000262891:R657Q	ENSP00000300843:D684N|ENSP00000262891:R657Q	D|R	+|+	1|2	0|0	MARK4|MARK4	50497519|50497519	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.044000|7.044000	0.76578|0.76578	1.254000|1.254000	0.44035|0.44035	0.563000|0.563000	0.77884|0.77884	GAT|CGA	MARK4-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457538.1		+	ENST00000300843.4	Missense_Mutation	SNP	19 : 45805679 - 45805679 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1529	273
DAW1	164781	broad.mit.edu	37	2	228750117	228750117	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228750117G>T	ENST00000373666.2	+	2	727	c.91G>T	c.(91-93)Gat>Tat	p.D31Y	DAW1_ENST00000545118.1_Missense_Mutation_p.D16Y|DAW1_ENST00000309931.2_Missense_Mutation_p.D31Y					dynein assembly factor with WDR repeat domains 1	NA											NA						TAAGTCCATAGATTTGCTTGA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	113	112			NA	NA	2		NA											NA				228750117		2203	4300	6503	SO:0001583	missense				CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977	164781	164781		WD repeat domain containing	26383	protein-coding gene	gene with protein product	outer row dynein assembly 16 homolog (Chlamydomonas)		WD repeat domain 69	WDR69	NA	20568242, 21953912	Standard	NM_178821	NM_178821	NA	Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000373666.2:c.91G>T	2.37:g.228750117G>T	ENSP00000362770:p.Asp31Tyr	NA		37		.	.	.	.	.	.	.	.	.	.	G	19.47	3.834469	0.71373	.	.	ENSG00000123977	ENST00000373666;ENST00000309931;ENST00000440997;ENST00000545118	T;T;T;T	0.72051	0.47;0.38;-0.62;0.35	5.52	5.52	0.82312	.	0.054817	0.64402	D	0.000001	D	0.86205	0.5877	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.88385	0.3004	10	0.87932	D	0	.	16.9351	0.86201	0.0:0.0:1.0:0.0	.	31	Q8N136	WDR69_HUMAN	Y	31;31;16;16	ENSP00000362770:D31Y;ENSP00000311899:D31Y;ENSP00000394853:D16Y;ENSP00000437887:D16Y	ENSP00000311899:D31Y	D	+	1	0	WDR69	228458361	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	8.283000	0.89909	2.577000	0.86979	0.655000	0.94253	GAT	DAW1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000256899.3		+	ENST00000373666.2	Missense_Mutation	SNP	2 : 228750117 - 228750117 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	400	57
GBE1	2632	broad.mit.edu	37	3	81627222	81627222	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:81627222G>A	ENST00000429644.2	-	12	2115	c.1472C>T	c.(1471-1473)gCa>gTa	p.A491V	GBE1_ENST00000489715.1_Missense_Mutation_p.A450V	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	491					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		CAACCAAAATGCCAGCGACTT	0.358		NA							Glycogen Storage Disease, type IV					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	63	65			NA	NA	3		NA											NA				81627222		1896	4117	6013	SO:0001583	missense	Familial Cancer Database	Andersen Disease, Brancher deficiency		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2632	2632	2.4.1.18		4180	protein-coding gene	gene with protein product	glycogen branching enzyme, Andersen disease, glycogen storage disease type IV	607839			NA	8463281	Standard		NM_000158	NA	Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.1472C>T	3.37:g.81627222G>A	ENSP00000410833:p.Ala491Val	NA	Q96EN0	37	CCDS54612.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.539408	0.85917	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715;ENST00000536832	D;D	0.85484	-1.99;-1.99	5.68	5.68	0.88126	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.101196	0.64402	D	0.000002	D	0.94879	0.8345	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.67382	0.811;0.951	D	0.95854	0.8877	10	0.87932	D	0	-12.9944	19.7771	0.96399	0.0:0.0:1.0:0.0	.	450;491	E9PGM4;Q04446	.;GLGB_HUMAN	V	491;542;450;254	ENSP00000410833:A491V;ENSP00000419638:A450V	ENSP00000264326:A542V	A	-	2	0	GBE1	81709912	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	9.455000	0.97625	2.676000	0.91093	0.585000	0.79938	GCA	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352760.2		-	ENST00000429644.2	Missense_Mutation	SNP	3 : 81627222 - 81627222 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	78	16
PTCRA	171558	broad.mit.edu	37	6	42890844	42890844	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42890844C>T	ENST00000304672.1	+	2	219	c.138C>T	c.(136-138)gtC>gtT	p.V46V	PTCRA_ENST00000446507.1_Intron|PTCRA_ENST00000441198.1_Intron	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	46						integral to membrane	receptor activity			large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			TGGTGGTGGTCTGCCTGGTCC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4405		0,1,2202	147	126	133		138	-1.8	1	6		133	0,8600		0,0,4300	no	coding-synonymous	PTCRA	NM_138296.2		0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077		46/282	42890844	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF084941	CCDS4874.1, CCDS59019.1, CCDS59020.1, CCDS75457.1	6p21.3	2008-02-05			ENSG00000171611	ENSG00000171611	171558	171558			21290	protein-coding gene	gene with protein product		606817			NA	8618853, 9842925	Standard	NM_138296	NM_138296	NA	Approved	PTA, PT-ALPHA	uc021yzp.1	Q6ISU1	OTTHUMG00000014709	ENST00000304672.1:c.138C>T	6.37:g.42890844C>T		NA	Q5TFZ7	37	CCDS4874.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.253776	0.22965	2.27E-4	0.0	ENSG00000171611	ENST00000418903	.	.	.	5.84	-1.76	0.08006	.	.	.	.	.	T	0.31702	0.0805	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44436	-0.9328	5	0.87932	D	0	-24.9793	0.5962	0.00736	0.2505:0.3307:0.1223:0.2965	.	.	.	.	F	57	.	ENSP00000407061:S57F	S	+	2	0	PTCRA	42998822	0.950000	0.32346	0.983000	0.44433	0.959000	0.62525	-0.313000	0.08103	-0.353000	0.08224	-0.145000	0.13849	TCT	PTCRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040565.2		+	ENST00000304672.1	Silent	SNP	6 : 42890844 - 42890844 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	566	111
ZAP70	7535	broad.mit.edu	37	2	98351789	98351789	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98351789G>A	ENST00000264972.5	+	10	1374	c.1159G>A	c.(1159-1161)Gcg>Acg	p.A387T	ZAP70_ENST00000442208.1_Missense_Mutation_p.A261T|ZAP70_ENST00000451498.2_Missense_Mutation_p.A80T|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	387	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GATGCGCGAGGCGCAGATCAT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	130	140			NA	NA	2		NA											NA				98351789		2203	4300	6503	SO:0001583	missense			L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085	7535	7535		SH2 domain containing	12858	protein-coding gene	gene with protein product		176947	zeta-chain (TCR) associated protein kinase (70 kD)	SRK	NA	1423621	Standard		NM_001079	NA	Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1159G>A	2.37:g.98351789G>A	ENSP00000264972:p.Ala387Thr	NA	A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	37	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541711	0.85917	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	T;T;T	0.63913	-0.07;-0.07;-0.07	5.65	5.65	0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49916	D	0.000136	T	0.74512	0.3726	M	0.70787	2.145	0.80722	D	1	D;D	0.63046	0.992;0.965	P;P	0.55545	0.741;0.778	T	0.77035	-0.2737	10	0.87932	D	0	.	17.5952	0.88010	0.0:0.0:1.0:0.0	.	261;387	P43403-3;P43403	.;ZAP70_HUMAN	T	387;261;80	ENSP00000264972:A387T;ENSP00000411141:A261T;ENSP00000400475:A80T	ENSP00000264972:A387T	A	+	1	0	ZAP70	97718221	1.000000	0.71417	0.989000	0.46669	0.199000	0.23934	9.823000	0.99369	2.844000	0.97970	0.643000	0.83706	GCG	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329278.1		+	ENST00000264972.5	Missense_Mutation	SNP	2 : 98351789 - 98351789 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	926	256
NF1	4763	broad.mit.edu	37	17	29661915	29661915	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29661915C>T	ENST00000358273.4	+	40	6255	c.5872C>T	c.(5872-5874)Cgt>Tgt	p.R1958C	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Missense_Mutation_p.R1937C	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1958					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAATCTAGTTCGTTTTTGCAA	0.358		NA	D, Mis, N, F, S, O		neurofibroma, glioma	neurofibroma, glioma			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)											126	117	120			NA	NA	17		NA											NA				29661915		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712	4763	4763			7765	protein-coding gene	gene with protein product	neurofibromatosis, von Recklinghausen disease, Watson disease	613113			NA	1715669	Standard	NM_000267	NM_000267	NA	Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5872C>T	17.37:g.29661915C>T	ENSP00000351015:p.Arg1958Cys	NA	O00662|Q14284|Q14930|Q9UMK3	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	31	5.081652	0.94050	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	D;D;D	0.93426	-3.22;-3.22;-3.22	5.54	5.54	0.83059	Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	D	0.96636	0.8902	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.917	D	0.96854	0.9627	10	0.87932	D	0	.	19.4882	0.95039	0.0:1.0:0.0:0.0	.	1937;1958	P21359-2;P21359	.;NF1_HUMAN	C	1958;1937;1603	ENSP00000351015:R1958C;ENSP00000348498:R1937C;ENSP00000389907:R1603C	ENSP00000348498:R1937C	R	+	1	0	NF1	26686041	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.578000	0.67450	2.620000	0.88729	0.557000	0.71058	CGT	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256351.2		+	ENST00000358273.4	Missense_Mutation	SNP	17 : 29661915 - 29661915 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	57
GLRA3	8001	broad.mit.edu	37	4	175564991	175564991	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:175564991G>A	ENST00000274093.3	-	10	1843	c.1341C>T	c.(1339-1341)taC>taT	p.Y447Y	GLRA3_ENST00000340217.5_Silent_p.Y432Y	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	447					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	AGATAACCCAGTAGAAAATAT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	86	84			NA	NA	4		NA											NA				175564991		2203	4300	6503	SO:0001819	synonymous_variant			AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451	8001	8001		Ligand-gated ion channels / Glycine receptors	4328	protein-coding gene	gene with protein product		600421			NA	9677400	Standard		NM_001042543	NA	Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.1341C>T	4.37:g.175564991G>A		NA	D3DP44|O75816|Q5D0E3	37	CCDS3822.1																																																																																			GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313427.1		-	ENST00000274093.3	Silent	SNP	4 : 175564991 - 175564991 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	679	111
SLC10A5	347051	broad.mit.edu	37	8	82606167	82606167	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82606167A>G	ENST00000518568.1	-	1	2242	c.1041T>C	c.(1039-1041)ggT>ggC	p.G347G		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	347						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						CAAACAGCAAACCCAAAGCAG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	70	70			NA	NA	8		NA											NA				82606167		2203	4300	6503	SO:0001819	synonymous_variant				CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598	347051	347051		Solute carriers	22981	protein-coding gene	gene with protein product					NA		Standard	XM_294493	NM_001010893	NA	Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.1041T>C	8.37:g.82606167A>G		NA	B2RN26	37	CCDS34915.1																																																																																			SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379736.1		-	ENST00000518568.1	Silent	SNP	8 : 82606167 - 82606167 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	339	67
FBN2	2201	broad.mit.edu	37	5	127872100	127872100	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127872100A>G	ENST00000508053.1	-	8	1306	c.332T>C	c.(331-333)aTt>aCt	p.I111T	FBN2_ENST00000262464.4_Missense_Mutation_p.I111T|FBN2_ENST00000508989.1_Missense_Mutation_p.I111T			P35556	FBN2_HUMAN	fibrillin 2	111	EGF-like 1.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTCACGGACAATGCACTGGTT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	65	70			NA	NA	5		NA											NA				127872100		2203	4300	6503	SO:0001583	missense			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829	2201	2201			3604	protein-coding gene	gene with protein product	fibrillin 5	612570	congenital contractural arachnodactyly	CCA	NA	1852206, 8120105	Standard	NM_001999	NM_001999	NA	Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.332T>C	5.37:g.127872100A>G	ENSP00000424571:p.Ile111Thr	NA	B4DU01|Q59ES6	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.067395	0.76301	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989;ENST00000502468	D;D;D;T	0.86694	-1.82;-1.82;-2.16;-0.15	5.32	5.32	0.75619	.	0.151063	0.44483	D	0.000451	D	0.90903	0.7141	M	0.65975	2.015	0.54753	D	0.999988	P;D;P;P	0.56521	0.867;0.976;0.651;0.651	B;P;B;B	0.57101	0.382;0.813;0.212;0.165	D	0.91538	0.5247	10	0.59425	D	0.04	.	15.4316	0.75105	1.0:0.0:0.0:0.0	.	111;111;111;111	P35556-2;E9PHW4;D6RJI3;P35556	.;.;.;FBN2_HUMAN	T	111	ENSP00000262464:I111T;ENSP00000424571:I111T;ENSP00000425596:I111T;ENSP00000424753:I111T	ENSP00000262464:I111T	I	-	2	0	FBN2	127899999	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.827000	0.92041	2.371000	0.80710	0.533000	0.62120	ATT	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000371618.2		-	ENST00000508053.1	Missense_Mutation	SNP	5 : 127872100 - 127872100 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	183	44
SLC25A31	83447	broad.mit.edu	37	4	128688339	128688339	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128688339C>T	ENST00000281154.4	+	4	765	c.597C>T	c.(595-597)taC>taT	p.Y199Y		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	199					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						TCATTGTGTACCGAGCCTCTT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													186	182	184			NA	NA	4		NA											NA				128688339		2203	4300	6503	SO:0001819	synonymous_variant			AL136857	CCDS3733.1	4q28	2013-05-22			ENSG00000151475	ENSG00000151475	83447	83447		Solute carriers	25319	protein-coding gene	gene with protein product		610796			NA	15670820	Standard	NM_031291	NM_031291	NA	Approved	DKFZP434N1235, ANT4	uc003ifl.3	Q9H0C2	OTTHUMG00000133300	ENST00000281154.4:c.597C>T	4.37:g.128688339C>T		NA		37	CCDS3733.1																																																																																			SLC25A31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257094.2		+	ENST00000281154.4	Silent	SNP	4 : 128688339 - 128688339 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	995	163
MICALL1	85377	broad.mit.edu	37	22	38308394	38308394	+	Missense_Mutation	SNP	G	G	A	rs114708609	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38308394G>A	ENST00000215957.6	+	3	358	c.232G>A	c.(232-234)Gct>Act	p.A78T		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	78	CH.					cytoplasm|cytoskeleton	protein binding|zinc ion binding	p.A78T(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					GGGGATCCCCGCTCTCCTGGA	0.592		NA											G	2	9e-04	0.002	NA	2184	0.0017	0.9997	,	,	NA	5e-04	NA	NA	NA	0.0011	0.878	LOWCOV,EXOME	NA	NA	9e-04	SNP								NA				1	Substitution - Missense(1)	large_intestine(1)						G	THR/ALA	6,4400	11.4+/-27.6	0,6,2197	80	71	74		232	4.7	1	22	dbSNP_132	74	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MICALL1	NM_033386.3	58	0,7,6496	AA,AG,GG	NA	0.0116,0.1362,0.0538	probably-damaging	78/864	38308394	7,12999	2203	4300	6503	SO:0001583	missense			BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139	85377	85377			29804	protein-coding gene	gene with protein product	molecule interacting with Rab13				NA	11258795, 12110185	Standard	NM_033386	NM_033386	NA	Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.232G>A	22.37:g.38308394G>A	ENSP00000215957:p.Ala78Thr	NA	Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	37	CCDS13961.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	35	5.488600	0.96323	0.001362	1.16E-4	ENSG00000100139	ENST00000215957	D	0.94793	-3.52	4.69	4.69	0.59074	Calponin homology domain (5);	0.310182	0.22740	N	0.056202	D	0.96935	0.8999	M	0.70842	2.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97262	0.9905	10	0.66056	D	0.02	.	18.2487	0.89996	0.0:0.0:1.0:0.0	.	78	Q8N3F8	MILK1_HUMAN	T	78	ENSP00000215957:A78T	ENSP00000215957:A78T	A	+	1	0	MICALL1	36638340	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	7.604000	0.82830	2.609000	0.88269	0.632000	0.83419	GCT	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319545.4		+	ENST00000215957.6	Missense_Mutation	SNP	22 : 38308394 - 38308394 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	79
PHF3	23469	broad.mit.edu	37	6	64394104	64394104	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64394104G>T	ENST00000509330.1	+	4	848	c.481G>T	c.(481-483)Gca>Tca	p.A161S	PHF3_ENST00000262043.3_Missense_Mutation_p.A161S|PHF3_ENST00000393387.1_Missense_Mutation_p.A161S			Q92576	PHF3_HUMAN	PHD finger protein 3	161					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CACAAAAAAAGCATCTGGGAA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(135;136 1820 29512 34071 46235)							NA				0													160	170	166			NA	NA	6		NA											NA				64394104		2203	4300	6503	SO:0001583	missense			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482	23469	23469		Zinc fingers, PHD-type	8921	protein-coding gene	gene with protein product		607789			NA	11856869	Standard		XM_005248701	NA	Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000509330.1:c.481G>T	6.37:g.64394104G>T	ENSP00000422841:p.Ala161Ser	NA	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	37		.	.	.	.	.	.	.	.	.	.	G	7.453	0.643124	0.14451	.	.	ENSG00000118482	ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387;ENST00000514822	T;T;T;T;T	0.41400	2.01;2.32;2.01;1.0;2.32	5.69	1.84	0.25277	.	0.563095	0.13620	N	0.374471	T	0.09774	0.0240	L	0.38531	1.155	0.20307	N	0.999911	B;B	0.31435	0.031;0.323	B;B	0.26770	0.008;0.073	T	0.35051	-0.9804	10	0.15066	T	0.55	-5.3199	6.3407	0.21321	0.0696:0.3046:0.4872:0.1386	.	161;161	Q92576;D6R9X2	PHF3_HUMAN;.	S	73;161;114;161;161;91	ENSP00000425227:A73S;ENSP00000262043:A161S;ENSP00000424078:A114S;ENSP00000422841:A161S;ENSP00000377048:A161S	ENSP00000262043:A161S	A	+	1	0	PHF3	64452063	0.992000	0.36948	0.835000	0.33067	0.985000	0.73830	0.067000	0.14510	-0.158000	0.11040	-0.810000	0.03169	GCA	PHF3-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000359965.1		+	ENST00000509330.1	Missense_Mutation	SNP	6 : 64394104 - 64394104 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	950	171
PTPDC1	138639	broad.mit.edu	37	9	96859904	96859904	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96859904C>A	ENST00000288976.3	+	6	1117	c.1050C>A	c.(1048-1050)gaC>gaA	p.D350E	PTPDC1_ENST00000375360.3_Missense_Mutation_p.D298E	NM_001253829.1|NM_152422.4	NP_001240758.1|NP_689635.3	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	298							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TGCTGCTGGACTTAGCGGAGA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	85	86			NA	NA	9		NA											NA				96859904		2203	4300	6503	SO:0001583	missense			BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079	138639	138639		Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s	30184	protein-coding gene	gene with protein product	protein tyrosine phosphatase PTP9Q22				NA	14702039	Standard	NM_177995, NM_152422	NM_152422	NA	Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000288976.3:c.1050C>A	9.37:g.96859904C>A	ENSP00000288976:p.Asp350Glu	NA	Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	37	CCDS6708.1	.	.	.	.	.	.	.	.	.	.	.	15.80	2.939996	0.52972	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.12672	2.66;2.66	5.64	2.78	0.32641	.	0.041854	0.85682	D	0.000000	T	0.20088	0.0483	M	0.69823	2.125	0.42409	D	0.992596	P;P;B;P	0.41929	0.765;0.532;0.264;0.584	P;B;B;B	0.44359	0.447;0.348;0.132;0.351	T	0.04413	-1.0953	10	0.62326	D	0.03	-24.5012	10.5814	0.45257	0.0:0.7951:0.0:0.2049	.	352;350;352;298	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	E	298;350	ENSP00000364509:D298E;ENSP00000288976:D350E	ENSP00000288976:D350E	D	+	3	2	PTPDC1	95899725	0.995000	0.38212	1.000000	0.80357	0.911000	0.54048	0.749000	0.26320	1.384000	0.46424	0.655000	0.94253	GAC	PTPDC1-002	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053171.2		+	ENST00000288976.3	Missense_Mutation	SNP	9 : 96859904 - 96859904 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	513	26
TFF1	7031	broad.mit.edu	37	21	43783485	43783485	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43783485C>T	ENST00000291527.2	-	2	215	c.117G>A	c.(115-117)caG>caA	p.Q39Q		NM_003225.2	NP_003216.1	P04155	TFF1_HUMAN	trefoil factor 1	39	P-type.				carbohydrate metabolic process|response to estradiol stimulus		growth factor activity			cervix(1)|lung(1)	2						AACCACAATTCTGTCTTTCAC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	69	72			NA	NA	21		NA											NA				43783485		2203	4300	6503	SO:0001819	synonymous_variant			BC032811	CCDS13685.1	21q22.3	2012-10-02	2007-01-29		ENSG00000160182	ENSG00000160182	7031	7031			11755	protein-coding gene	gene with protein product		113710	breast cancer, estrogen-inducible sequence expressed in	BCEI	NA	9043862	Standard	NM_003225	NM_003225	NA	Approved	D21S21, HPS2, pS2, pNR-2, HP1.A	uc002zax.1	P04155	OTTHUMG00000086799	ENST00000291527.2:c.117G>A	21.37:g.43783485C>T		NA		37	CCDS13685.1																																																																																			TFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195361.1		-	ENST00000291527.2	Silent	SNP	21 : 43783485 - 43783485 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	227	44
FCGR2A	2212	broad.mit.edu	37	1	161487866	161487866	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161487866G>A	ENST00000271450.6	+	7	920	c.882G>A	c.(880-882)agG>agA	p.R294R	FCGR2A_ENST00000367972.4_Silent_p.R293R|RP11-25K21.6_ENST00000537821.2_RNA|FCGR2A_ENST00000486608.1_3'UTR	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	294						integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGAACCCCAGGGCACCTACTG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	72	71			NA	NA	1		NA											NA				161487866		2203	4297	6500	SO:0001819	synonymous_variant			J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226	2212	2212		CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	3616	protein-coding gene	gene with protein product	Immunoglobulin G Fc receptor II	146790	Fc fragment of IgG, low affinity IIa, receptor for (CD32)	FCG2, FCGR2A1, FCGR2	NA	2139735	Standard	NM_021642	NM_021642	NA	Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.882G>A	1.37:g.161487866G>A		NA	Q8WUN1|Q8WW64	37	CCDS44264.1																																																																																			FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083318.3		+	ENST00000271450.6	Silent	SNP	1 : 161487866 - 161487866 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	687	98
REM1	28954	broad.mit.edu	37	20	30064336	30064336	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30064336C>A	ENST00000201979.2	+	2	381	c.88C>A	c.(88-90)Cct>Act	p.P30T	DEFB124_ENST00000481595.1_Intron	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	30					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GGGCCACCAGCCTGGCCGCCT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	88	84			NA	NA	20		NA											NA				30064336		2203	4300	6503	SO:0001583	missense			AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320	28954	28954			15922	protein-coding gene	gene with protein product	GTPase GES	610388	RAS (RAD and GEM)-like GTP-binding	REM	NA	10831614, 14623965	Standard	NM_014012	NM_014012	NA	Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.88C>A	20.37:g.30064336C>A	ENSP00000201979:p.Pro30Thr	NA	E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	37	CCDS13181.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027703	0.54790	.	.	ENSG00000088320	ENST00000201979	T	0.65916	-0.18	4.55	3.59	0.41128	.	0.410133	0.19588	N	0.110692	T	0.43366	0.1244	N	0.19112	0.55	0.26069	N	0.981242	B	0.33964	0.434	B	0.28011	0.085	T	0.47045	-0.9147	10	0.66056	D	0.02	.	10.6959	0.45899	0.0:0.9038:0.0:0.0962	.	30	O75628	REM1_HUMAN	T	30	ENSP00000201979:P30T	ENSP00000201979:P30T	P	+	1	0	REM1	29527997	0.890000	0.30428	1.000000	0.80357	0.852000	0.48524	2.140000	0.42159	2.350000	0.79820	0.655000	0.94253	CCT	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078508.2		+	ENST00000201979.2	Missense_Mutation	SNP	20 : 30064336 - 30064336 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	652	53
PLEC	5339	broad.mit.edu	37	8	144997397	144997397	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144997397G>A	ENST00000322810.4	-	31	7280	c.7111C>T	c.(7111-7113)Cgc>Tgc	p.R2371C	PLEC_ENST00000356346.3_Missense_Mutation_p.R2220C|PLEC_ENST00000398774.2_Missense_Mutation_p.R2202C|PLEC_ENST00000354589.3_Missense_Mutation_p.R2234C|PLEC_ENST00000345136.3_Missense_Mutation_p.R2234C|PLEC_ENST00000357649.2_Missense_Mutation_p.R2238C|PLEC_ENST00000527096.1_Missense_Mutation_p.R2257C|PLEC_ENST00000354958.2_Missense_Mutation_p.R2212C|PLEC_ENST00000436759.2_Missense_Mutation_p.R2261C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2371	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ATCTGCACGCGCACCGAGAAG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	26	26			NA	NA	8		NA											NA				144997397		2186	4273	6459	SO:0001583	missense			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209	5339	5339			9069	protein-coding gene	gene with protein product		601282	plectin 1, intermediate filament binding protein, 500kD, epidermolysis bullosa simplex 1 (Ogna), plectin 1, intermediate filament binding protein 500kDa	EBS1, PLEC1	NA	8633055, 8696340	Standard	NM_000445	XM_005250976	NA	Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7111C>T	8.37:g.144997397G>A	ENSP00000323856:p.Arg2371Cys	NA	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	5.110	0.205970	0.09704	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.78816	-1.15;-1.15;-1.18;-1.18;-1.16;-1.14;-1.21;-1.15;-1.15	5.11	4.14	0.48551	.	0.099669	0.39341	U	0.001393	T	0.78246	0.4253	L	0.43923	1.385	0.50813	D	0.999893	D;D;D;D;D;D;D;D	0.76494	0.999;0.998;0.998;0.998;0.998;0.998;0.999;0.999	P;P;P;P;P;P;P;P	0.53861	0.736;0.736;0.736;0.549;0.736;0.736;0.736;0.736	T	0.80741	-0.1247	10	0.87932	D	0	.	12.2609	0.54649	0.0:0.0:0.6987:0.3013	.	2261;2220;2212;2371;2202;2234;2238;2234	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	C	2234;2238;2234;2202;2371;2212;2220;2261;2257	ENSP00000344848:R2234C;ENSP00000350277:R2238C;ENSP00000346602:R2234C;ENSP00000381756:R2202C;ENSP00000323856:R2371C;ENSP00000347044:R2212C;ENSP00000348702:R2220C;ENSP00000388180:R2261C;ENSP00000434583:R2257C	ENSP00000323856:R2371C	R	-	1	0	PLEC	145069385	0.962000	0.33011	0.983000	0.44433	0.044000	0.14063	3.072000	0.50049	2.372000	0.80975	0.549000	0.68633	CGC	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383281.1		-	ENST00000322810.4	Missense_Mutation	SNP	8 : 144997397 - 144997397 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	44
TREML2	79865	broad.mit.edu	37	6	41166116	41166116	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41166116G>T	ENST00000483722.1	-	2	292	c.107C>A	c.(106-108)aCt>aAt	p.T36N		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	36	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CACAGACAGAGTCTCCCCTTC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	139	138			NA	NA	6		NA											NA				41166116		2203	4300	6503	SO:0001583	missense			AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195	79865	79865		Immunoglobulin superfamily / V-set domain containing	21092	protein-coding gene	gene with protein product	TREM-like transcript 2	609715	chromosome 6 open reading frame 76	C6orf76	NA	12645956	Standard	NM_024807	NM_024807	NA	Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.107C>A	6.37:g.41166116G>T	ENSP00000418767:p.Thr36Asn	NA	Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	37	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	.	13.67	2.307291	0.40795	.	.	ENSG00000112195	ENST00000483722	T	0.64085	-0.08	4.75	4.75	0.60458	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000034	T	0.68869	0.3048	L	0.60455	1.87	0.37215	D	0.904973	D	0.76494	0.999	D	0.79108	0.992	T	0.73030	-0.4111	10	0.62326	D	0.03	-15.7229	13.6225	0.62144	0.0:0.0:1.0:0.0	.	36	Q5T2D2	TRML2_HUMAN	N	36	ENSP00000418767:T36N	ENSP00000418767:T36N	T	-	2	0	TREML2	41274094	0.999000	0.42202	0.984000	0.44739	0.036000	0.12997	4.280000	0.58959	2.344000	0.79699	0.563000	0.77884	ACT	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043756.3		-	ENST00000483722.1	Missense_Mutation	SNP	6 : 41166116 - 41166116 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1181	213
GPR98	84059	broad.mit.edu	37	5	90050900	90050900	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:90050900C>T	ENST00000405460.2	+	55	11574	c.11478C>T	c.(11476-11478)gtC>gtT	p.V3826V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3826					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TACTGCATGTCGATAATCAAG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	123	125			NA	NA	5		NA											NA				90050900		1867	4094	5961	SO:0001819	synonymous_variant			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199	84059	84059		-, GPCR / Class B : Orphans	17416	protein-coding gene	gene with protein product		602851	monogenic, audiogenic seizure susceptibility 1 homolog (mouse)	USH2C, MASS1	NA	10976914, 14740321	Standard	NM_032119	NM_032119	NA	Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.11478C>T	5.37:g.90050900C>T		NA	O75171|Q8TF58|Q9H0X5|Q9UL61	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	7.271	0.607155	0.14002	.	.	ENSG00000164199	ENST00000509621	.	.	.	5.73	1.34	0.21922	.	.	.	.	.	T	0.26774	0.0655	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23226	-1.0194	4	.	.	.	.	5.645	0.17584	0.2541:0.5424:0.0:0.2035	.	.	.	.	L	1392	.	.	S	+	2	0	GPR98	90086656	0.000000	0.05858	0.034000	0.17996	0.978000	0.69477	0.191000	0.17076	0.334000	0.23590	0.655000	0.94253	TCG	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369993.2		+	ENST00000405460.2	Silent	SNP	5 : 90050900 - 90050900 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	445	95
PRKCQ	5588	broad.mit.edu	37	10	6483904	6483904	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:6483904G>A	ENST00000263125.5	-	16	1886	c.1787C>T	c.(1786-1788)cCc>cTc	p.P596L	PRKCQ_ENST00000539722.1_Missense_Mutation_p.P471L|PRKCQ_ENST00000397176.2_Intron	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	596	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TGGGTAAAAGGGATTGTCCAT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(50;572 1126 10530 25349 30594)							NA				0													107	92	97			NA	NA	10		NA											NA				6483904		2203	4300	6503	SO:0001583	missense			L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	5588	5588	2.7.11.1		9410	protein-coding gene	gene with protein product		600448			NA	8444877	Standard	NM_006257	NM_001282645	NA	Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.1787C>T	10.37:g.6483904G>A	ENSP00000263125:p.Pro596Leu	NA	Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	37	CCDS7079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.54|16.54	3.151850|3.151850	0.57151|0.57151	.|.	.|.	ENSG00000065675|ENSG00000065675	ENST00000263125;ENST00000539722|ENST00000397178	T;T|.	0.61980|.	0.06;0.06|.	5.64|5.64	5.64|5.64	0.86602|0.86602	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.098076|0.098076	0.64402|0.64402	D|D	0.000001|0.000001	T|T	0.60779|0.60779	0.2295|0.2295	N|N	0.25789|0.25789	0.76|0.76	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.98;0.998;1.0|.	P;D;D|.	0.97110|.	0.824;0.969;1.0|.	T|T	0.63216|0.63216	-0.6687|-0.6687	10|7	0.33141|0.66056	T|D	0.24|0.02	.|.	19.3241|19.3241	0.94254|0.94254	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	471;368;596|.	B4DF52;Q5JUN8;Q04759|.	.;.;KPCT_HUMAN|.	L|S	596;471|369	ENSP00000263125:P596L;ENSP00000441752:P471L|.	ENSP00000263125:P596L|ENSP00000380363:P369S	P|P	-|-	2|1	0|0	PRKCQ|PRKCQ	6523910|6523910	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.802000|0.802000	0.45316|0.45316	9.556000|9.556000	0.98127|0.98127	2.655000|2.655000	0.90218|0.90218	0.462000|0.462000	0.41574|0.41574	CCC|CCT	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046665.1		-	ENST00000263125.5	Missense_Mutation	SNP	10 : 6483904 - 6483904 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	420	84
LCE1F	353137	broad.mit.edu	37	1	152749094	152749094	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152749094C>A	ENST00000334371.2	+	1	247	c.247C>A	c.(247-249)Cgt>Agt	p.R83S		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	83	Poly-Arg.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACAGACGGCGTAGGTCCCA	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	26	24			NA	NA	1		NA											NA				152749094		2203	4298	6501	SO:0001583	missense				CCDS1023.1	1q21.3	2008-02-05			ENSG00000240386	ENSG00000240386	353137	353137		Late cornified envelopes	29467	protein-coding gene	gene with protein product		612608			NA	11698679	Standard	NM_178354	NM_178354	NA	Approved	LEP6	uc010pdv.2	Q5T754	OTTHUMG00000012403	ENST00000334371.2:c.247C>A	1.37:g.152749094C>A	ENSP00000334187:p.Arg83Ser	NA		37	CCDS1023.1	.	.	.	.	.	.	.	.	.	.	C	8.593	0.885064	0.17540	.	.	ENSG00000240386	ENST00000334371	T	0.04119	3.7	4.45	3.46	0.39613	.	0.268702	0.18250	N	0.146987	T	0.02533	0.0077	M	0.65498	2.005	0.22468	N	0.999073	P	0.38455	0.632	B	0.32805	0.153	T	0.24870	-1.0148	10	0.87932	D	0	.	9.1314	0.36848	0.2177:0.7823:0.0:0.0	.	83	Q5T754	LCE1F_HUMAN	S	83	ENSP00000334187:R83S	ENSP00000334187:R83S	R	+	1	0	LCE1F	151015718	0.007000	0.16637	0.983000	0.44433	0.400000	0.30750	1.238000	0.32707	2.445000	0.82738	0.557000	0.71058	CGT	LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034523.2		+	ENST00000334371.2	Missense_Mutation	SNP	1 : 152749094 - 152749094 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	400	114
TCERG1	10915	broad.mit.edu	37	5	145838663	145838663	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145838663G>A	ENST00000296702.5	+	4	693	c.655G>A	c.(655-657)Gcc>Acc	p.A219T	TCERG1_ENST00000394421.2_Missense_Mutation_p.A219T	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	219	Ala/Gln-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ccaggcccaggcccaggccca	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	15	14			NA	NA	5		NA											NA				145838663		2194	4281	6475	SO:0001583	missense			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649	10915	10915			15630	protein-coding gene	gene with protein product	transcription factor CA150, co-activator of 150 kDa, TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD, TATA box-binding protein-associated factor 2S	605409	TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD	TAF2S	NA	9315662, 11003711	Standard	NM_001040006	XM_005268365	NA	Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.655G>A	5.37:g.145838663G>A	ENSP00000296702:p.Ala219Thr	NA	Q2NKN2|Q59EA1	37	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	G	1.840	-0.467777	0.04476	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.35605	1.3;1.3	3.14	3.14	0.36123	.	0.000000	0.48767	D	0.000167	T	0.20577	0.0495	N	0.19112	0.55	0.26706	N	0.971071	B;B;B	0.21225	0.053;0.007;0.004	B;B;B	0.10450	0.005;0.002;0.001	T	0.12708	-1.0537	10	0.11794	T	0.64	-1.3402	12.081	0.53671	0.0:0.0:1.0:0.0	.	219;219;219	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	T	219	ENSP00000296702:A219T;ENSP00000377943:A219T	ENSP00000296702:A219T	A	+	1	0	TCERG1	145818856	1.000000	0.71417	0.988000	0.46212	0.016000	0.09150	2.966000	0.49208	1.721000	0.51461	0.462000	0.41574	GCC	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251886.1		+	ENST00000296702.5	Missense_Mutation	SNP	5 : 145838663 - 145838663 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	285	51
GCKR	2646	broad.mit.edu	37	2	27729396	27729396	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27729396C>A	ENST00000264717.2	+	11	981	c.918C>A	c.(916-918)acC>acA	p.T306T	GCKR_ENST00000424318.2_Silent_p.T116T	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	306					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					ATCAGGTGACCTACAGCCAAA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	97	98			NA	NA	2		NA											NA				27729396		2203	4300	6503	SO:0001819	synonymous_variant			Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734	2646	2646			4196	protein-coding gene	gene with protein product		600842	glucokinase (hexokinase 4) regulatory protein		NA	9570959, 8662230	Standard	NM_001486	NM_001486	NA	Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.918C>A	2.37:g.27729396C>A		NA	A1L4C2|Q53RY6|Q99522	37	CCDS1757.1	.	.	.	.	.	.	.	.	.	.	C	2.471	-0.321828	0.05386	.	.	ENSG00000084734	ENST00000411584	.	.	.	4.66	2.87	0.33458	.	.	.	.	.	T	0.58075	0.2097	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51880	-0.8649	4	.	.	.	-4.4669	8.7283	0.34483	0.0:0.8131:0.0:0.1869	.	.	.	.	H	7	.	.	P	+	2	0	GCKR	27582900	1.000000	0.71417	0.970000	0.41538	0.338000	0.28826	1.012000	0.29924	0.579000	0.29504	-0.251000	0.11542	CCT	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250214.1		+	ENST00000264717.2	Silent	SNP	2 : 27729396 - 27729396 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	392	68
FNDC3A	22862	broad.mit.edu	37	13	49741418	49741418	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49741418C>A	ENST00000492622.2	+	9	1321	c.1016C>A	c.(1015-1017)cCa>cAa	p.P339Q	FNDC3A_ENST00000541916.1_Missense_Mutation_p.P339Q|FNDC3A_ENST00000398316.3_Missense_Mutation_p.P283Q	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	339	Fibronectin type-III 1.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		GATCTCAAGCCAGCCATGGAT	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	67	67			NA	NA	13		NA											NA				49741418		2203	4294	6497	SO:0001583	missense			AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531	22862	22862		Fibronectin type III domain containing	20296	protein-coding gene	gene with protein product		615794	fibronectin type III domain containing 3	FNDC3	NA		Standard	NM_014923	NM_001079673	NA	Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.1016C>A	13.37:g.49741418C>A	ENSP00000417257:p.Pro339Gln	NA	B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	37	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394644	0.83011	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.68624	-0.34;-0.34;-0.34	5.19	5.19	0.71726	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000006	D	0.83649	0.5300	M	0.86651	2.83	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	D	0.85438	0.1153	10	0.49607	T	0.09	-19.1357	15.8768	0.79170	0.0:1.0:0.0:0.0	.	283;339;339	Q9Y2H6-2;G5E9X3;Q9Y2H6	.;.;FND3A_HUMAN	Q	339;275;339;283	ENSP00000417257:P339Q;ENSP00000441831:P339Q;ENSP00000381362:P283Q	ENSP00000338579:P275Q	P	+	2	0	FNDC3A	48639419	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.625000	0.74248	2.427000	0.82271	0.557000	0.71058	CCA	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354845.2		+	ENST00000492622.2	Missense_Mutation	SNP	13 : 49741418 - 49741418 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	429	38
BTNL2	56244	broad.mit.edu	37	6	32369565	32369565	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32369565G>A	ENST00000454136.3	-	4	731	c.727C>T	c.(727-729)Ctg>Ttg	p.L243L	BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000374993.1_Silent_p.L243L|BTNL2_ENST00000414363.1_Silent_p.L33L|BTNL2_ENST00000429232.2_Intron|BTNL2_ENST00000544175.1_5'UTR|BTNL2_ENST00000540315.1_Intron			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	243	Ig-like V-type 3.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TACTTACCCAGCTCAGTCTGG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	51	50			NA	NA	6		NA											NA				32369565		2203	4300	6503	SO:0001819	synonymous_variant			AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290	56244	56244		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Butyrophilins	1142	protein-coding gene	gene with protein product		606000			NA	10803852, 15735647	Standard	NM_019602	XM_006726138	NA	Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000454136.3:c.727C>T	6.37:g.32369565G>A		NA	A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	37																																																																																				BTNL2-001	KNOWN	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000313671.2		-	ENST00000454136.3	Silent	SNP	6 : 32369565 - 32369565 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	197	40
NOS1	4842	broad.mit.edu	37	12	117768514	117768514	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117768514G>A	ENST00000338101.4	-	1	365	c.361C>T	c.(361-363)Cgg>Tgg	p.R121W	NOS1_ENST00000317775.6_Missense_Mutation_p.R121W|NOS1_ENST00000344089.3_Missense_Mutation_p.R121W			P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	121	Interaction with NOSIP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TGTGTCACCCGGATGGTCTTG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(162;1748 2599 51982 52956)							NA				0													34	38	37			NA	NA	12		NA											NA				117768514		1903	4109	6012	SO:0001583	missense				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	4842	4842	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS	NA	1385308, 7682706	Standard		NM_001204213	NA	Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.361C>T	12.37:g.117768514G>A	ENSP00000337459:p.Arg121Trp	NA		37	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932481	0.73442	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000344089;ENST00000338101	T;T;T	0.07114	4.86;3.22;4.84	4.8	4.8	0.61643	PDZ/DHR/GLGF (1);	0.055578	0.64402	D	0.000001	T	0.24431	0.0592	M	0.73962	2.25	0.80722	D	1	D	0.69078	0.997	P	0.55161	0.77	T	0.01869	-1.1257	10	0.87932	D	0	-26.7802	18.0621	0.89380	0.0:0.0:1.0:0.0	.	121	P29475	NOS1_HUMAN	W	121	ENSP00000320758:R121W;ENSP00000339862:R121W;ENSP00000337459:R121W	ENSP00000320758:R121W	R	-	1	2	NOS1	116252897	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	2.255000	0.43222	2.492000	0.84095	0.555000	0.69702	CGG	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268053.1		-	ENST00000338101.4	Missense_Mutation	SNP	12 : 117768514 - 117768514 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	62
C13orf35	0	broad.mit.edu	37	13	113333706	113333706	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113333706G>T	ENST00000356049.1	+	2	771	c.13G>T	c.(13-15)Gag>Tag	p.E5*		NM_207440.1	NP_997323.1	Q6ZP68	CM035_HUMAN		5										breast(1)|lung(2)|ovary(1)|prostate(1)	5	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		all cancers(43;0.201)			GAACTCACCAGAGGCGAGGCT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	54	56			NA	NA	13		NA											NA				113333706		2203	4300	6503	SO:0001587	stop_gained											NA	NA			NA							NA					NA						ENST00000356049.1:c.13G>T	13.37:g.113333706G>T	ENSP00000348337:p.Glu5*	NA		37	CCDS9526.1	.	.	.	.	.	.	.	.	.	.	G	38	6.663447	0.97743	.	.	ENSG00000197595	ENST00000356049	.	.	.	1.82	0.911	0.19343	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999996	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.0085	0.19559	0.0:0.3287:0.6713:0.0	.	.	.	.	X	5	.	ENSP00000348337:E5X	E	+	1	0	C13orf35	112381707	0.002000	0.14202	0.042000	0.18584	0.018000	0.09664	0.232000	0.17891	0.296000	0.22592	0.462000	0.41574	GAG	C13orf35-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000126522.2		+	ENST00000356049.1	Nonsense_Mutation	SNP	13 : 113333706 - 113333706 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	216	38
GPR123	84435	broad.mit.edu	37	10	134942239	134942239	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134942239C>T	ENST00000392607.3	+	7	1343	c.907C>T	c.(907-909)Ctc>Ttc	p.L303F	GPR123_ENST00000392606.2_Missense_Mutation_p.L206F|GPR123_ENST00000607359.1_Missense_Mutation_p.L1022F	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	303						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		ACTCTTCGTGCTCATCCACCA	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	35	38			NA	NA	10		NA											NA				134942239		2197	4287	6484	SO:0001583	missense			AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177	84435	84435		-, GPCR / Class B : Orphans	13838	protein-coding gene	gene with protein product		612302			NA	12565841	Standard		XM_005252695	NA	Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.907C>T	10.37:g.134942239C>T	ENSP00000376384:p.Leu303Phe	NA	A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	37	CCDS41580.1	.	.	.	.	.	.	.	.	.	.	.	17.49	3.401612	0.62288	.	.	ENSG00000197177	ENST00000368577;ENST00000392607;ENST00000392606	T	0.38722	1.12	4.91	3.98	0.46160	GPCR, family 2-like (1);GPCR, family 2, secretin-like, conserved site (1);	0.000000	0.45606	D	0.000345	T	0.48840	0.1522	M	0.69823	2.125	0.58432	D	0.999995	B;B	0.27791	0.09;0.189	B;P	0.45794	0.084;0.493	T	0.38067	-0.9678	10	0.12766	T	0.61	-43.9164	6.9616	0.24599	0.0:0.727:0.1787:0.0943	.	303;1022	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	F	1022;303;207	ENSP00000376384:L303F	ENSP00000357566:L1022F	L	+	1	0	GPR123	134792229	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.313000	0.43735	1.162000	0.42619	0.561000	0.74099	CTC	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051113.2		+	ENST00000392607.3	Missense_Mutation	SNP	10 : 134942239 - 134942239 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	54
ABCA9	10350	broad.mit.edu	37	17	66989177	66989177	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66989177C>T	ENST00000340001.4	-	27	3815	c.3604G>A	c.(3604-3606)Gta>Ata	p.V1202I	ABCA9_ENST00000370732.2_Missense_Mutation_p.V1202I|ABCA9_ENST00000453985.2_Missense_Mutation_p.V1164I	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1202					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GCCAGGTATACAATTTCAGAT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	104	104			NA	NA	17		NA											NA				66989177		2202	4300	6502	SO:0001583	missense			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258	10350	10350		ATP binding cassette transporters / subfamily A	39	protein-coding gene	gene with protein product		612507			NA		Standard	NM_172386	XM_005256934	NA	Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.3604G>A	17.37:g.66989177C>T	ENSP00000342216:p.Val1202Ile	NA	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	37	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	6.499	0.460288	0.12342	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732	D;D	0.86366	-2.11;-2.11	4.44	-1.35	0.09114	.	0.876717	0.09469	N	0.797878	T	0.71937	0.3399	N	0.19112	0.55	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.15870	0.008;0.014	T	0.54721	-0.8251	10	0.13853	T	0.58	.	4.1642	0.10298	0.156:0.2935:0.4568:0.0936	.	1202;1202	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	I	1202;1147;1202	ENSP00000342216:V1202I;ENSP00000359767:V1202I	ENSP00000342216:V1202I	V	-	1	0	ABCA9	64500772	0.000000	0.05858	0.000000	0.03702	0.260000	0.26232	-0.769000	0.04710	-0.039000	0.13602	0.491000	0.48974	GTA	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277072.2		-	ENST00000340001.4	Missense_Mutation	SNP	17 : 66989177 - 66989177 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	291	46
PHKA2	5256	broad.mit.edu	37	X	18911732	18911732	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18911732G>T	ENST00000379942.4	-	33	4244	c.3579C>A	c.(3577-3579)gcC>gcA	p.A1193A	PHKA2-AS1_ENST00000439295.1_RNA|PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000452900.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1193					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AGATTCCTGTGGCTTGGTCTT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	155	156			NA	NA	X		NA											NA				18911732		2203	4300	6503	SO:0001819	synonymous_variant				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	5256	5256	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK	NA	2387090	Standard	NM_000292	NM_000292	NA	Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.3579C>A	X.37:g.18911732G>T		NA	A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	37	CCDS14190.1																																																																																			PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055960.1		-	ENST00000379942.4	Silent	SNP	X : 18911732 - 18911732 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	736	183
EFNB2	1948	broad.mit.edu	37	13	107145730	107145730	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:107145730G>T	ENST00000245323.4	-	5	809	c.660C>A	c.(658-660)atC>atA	p.I220I		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	220					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CGGAACCGAGGATGTTGTTCC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	99	109			NA	NA	13		NA											NA				107145730		2203	4300	6503	SO:0001819	synonymous_variant			L38734	CCDS9507.1	13q33	2011-03-09			ENSG00000125266	ENSG00000125266	1948	1948		Ephrins	3227	protein-coding gene	gene with protein product	HTK ligand, ligand of eph-related kinase 5, eph-related receptor tyrosine kinase ligand 5	600527		EPLG5	NA	7833926	Standard	NM_004093	NM_004093	NA	Approved	LERK5, Htk-L, HTKL, MGC126226, MGC126227, MGC126228	uc001vqi.3	P52799	OTTHUMG00000017324	ENST00000245323.4:c.660C>A	13.37:g.107145730G>T		NA	Q5JV56	37	CCDS9507.1																																																																																			EFNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045733.4		-	ENST00000245323.4	Silent	SNP	13 : 107145730 - 107145730 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	461	69
RBM10	8241	broad.mit.edu	37	X	47039844	47039844	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47039844G>A	ENST00000377604.3	+	12	1929	c.1187G>A	c.(1186-1188)cGc>cAc	p.R396H	RBM10_ENST00000345781.6_Missense_Mutation_p.R319H|RBM10_ENST00000329236.7_Missense_Mutation_p.R318H|RBM10_ENST00000478410.1_3'UTR	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	396			R -> H (in a colorectal cancer sample; somatic mutation).		mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	p.R396H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GAAGGCAGTCGCATCAGTGCT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(171;120 2705 19495 39241)							NA				1	Substitution - Missense(1)	large_intestine(1)											42	33	36			NA	NA	X		NA											NA				47039844		2203	4300	6503	SO:0001583	missense			U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872	8241	8241		Zinc fingers, RAN-binding domain containing, G patch domain containing, RNA binding motif (RRM) containing	9896	protein-coding gene	gene with protein product		300080			NA	8590280, 8808293	Standard	NM_005676	NM_005676	NA	Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.1187G>A	X.37:g.47039844G>A	ENSP00000366829:p.Arg396His	NA	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	37	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537587	0.65085	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	T;T;T	0.20463	2.74;2.07;2.33	2.92	2.92	0.33932	.	0.074216	0.53938	D	0.000050	T	0.39091	0.1065	M	0.62723	1.935	0.34688	D	0.725429	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	0.998;0.999;1.0;0.994;0.999	T	0.50642	-0.8804	10	0.37606	T	0.19	-11.582	11.024	0.47734	0.0:0.0:1.0:0.0	.	319;461;395;318;396	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175	.;.;.;.;RBM10_HUMAN	H	396;318;319	ENSP00000366829:R396H;ENSP00000328848:R318H;ENSP00000329659:R319H	ENSP00000328848:R318H	R	+	2	0	RBM10	46924788	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.112000	0.94314	1.724000	0.51502	0.525000	0.51046	CGC	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056381.1		+	ENST00000377604.3	Missense_Mutation	SNP	X : 47039844 - 47039844 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	115	28
APOH	350	broad.mit.edu	37	17	64222213	64222213	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:64222213C>T	ENST00000205948.6	-	3	308	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	91	Sushi 2.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			GCTCCATTTTCTAAGATTCCA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(155;624 1882 16869 48804 51309)							NA				0													100	92	95			NA	NA	17		NA											NA				64222213		2203	4300	6503	SO:0001583	missense				CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583	350	350		Apolipoproteins	616	protein-coding gene	gene with protein product	beta-2-glycoprotein I	138700		B2G1	NA	1582254	Standard	NM_000042	NM_000042	NA	Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.271G>A	17.37:g.64222213C>T	ENSP00000205948:p.Glu91Lys	NA	B2R9M3|Q9UCN7	37	CCDS11663.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307477	0.40795	.	.	ENSG00000091583	ENST00000205948	T	0.63255	-0.03	5.55	3.51	0.40186	Complement control module (2);Sushi/SCR/CCP (3);	0.557452	0.20002	N	0.101316	T	0.50309	0.1608	M	0.64997	1.995	0.31164	N	0.704006	B	0.32338	0.365	B	0.30105	0.111	T	0.49588	-0.8924	10	0.06625	T	0.88	.	7.9847	0.30205	0.0:0.7538:0.16:0.0863	.	91	P02749	APOH_HUMAN	K	91	ENSP00000205948:E91K	ENSP00000205948:E91K	E	-	1	0	APOH	61652675	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.609000	0.24238	0.675000	0.31264	0.563000	0.77884	GAA	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000446926.1		-	ENST00000205948.6	Missense_Mutation	SNP	17 : 64222213 - 64222213 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	295	48
TNFRSF1B	7133	broad.mit.edu	37	1	12266843	12266843	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12266843C>T	ENST00000376259.3	+	10	1241	c.1152C>T	c.(1150-1152)atC>atT	p.I384I	TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	384					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	TCACCTGCATCGTGAACGTCT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	100	106			NA	NA	1		NA											NA				12266843		2203	4300	6503	SO:0001819	synonymous_variant			M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137	7133	7133		Tumor necrosis factor receptor superfamily, CD molecules	11917	protein-coding gene	gene with protein product		191191		TNFR2	NA	2158863, 8702885	Standard	NM_001066	NM_001066	NA	Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.1152C>T	1.37:g.12266843C>T		NA	B1AJZ3|Q16042|Q6YI29|Q9UIH1	37	CCDS145.1																																																																																			TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005133.1		+	ENST00000376259.3	Silent	SNP	1 : 12266843 - 12266843 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	438	90
MSGN1	343930	broad.mit.edu	37	2	17998323	17998323	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17998323G>T	ENST00000281047.3	+	1	561	c.538G>T	c.(538-540)Gac>Tac	p.D180Y		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	180					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGAACTCACAGACCTCCTTAA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(127;325 1712 14802 40657 49130)							NA				0													40	43	42			NA	NA	2		NA											NA				17998323		2048	4191	6239	SO:0001583	missense				CCDS42657.1	2p24.2	2007-07-23			ENSG00000151379	ENSG00000151379	343930	343930			14907	protein-coding gene	gene with protein product	paraxial mesogenin	612209			NA	10837126	Standard	XM_292850	NM_001105569	NA	Approved	pMesogenin1	uc010yjt.2	A6NI15	OTTHUMG00000159089	ENST00000281047.3:c.538G>T	2.37:g.17998323G>T	ENSP00000281047:p.Asp180Tyr	NA		37	CCDS42657.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.958390	0.74016	.	.	ENSG00000151379	ENST00000281047	D	0.97710	-4.5	5.97	5.97	0.96955	Helix-loop-helix DNA-binding (3);	0.147023	0.64402	D	0.000012	D	0.96694	0.8921	N	0.19112	0.55	0.53688	D	0.999972	D	0.76494	0.999	P	0.60789	0.879	D	0.96618	0.9457	10	0.66056	D	0.02	-9.2098	13.6054	0.62044	0.0706:0.0:0.9294:0.0	.	180	A6NI15	MSGN1_HUMAN	Y	180	ENSP00000281047:D180Y	ENSP00000281047:D180Y	D	+	1	0	MSGN1	17861804	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.344000	0.72991	2.837000	0.97791	0.655000	0.94253	GAC	MSGN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353253.1		+	ENST00000281047.3	Missense_Mutation	SNP	2 : 17998323 - 17998323 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	382	55
ELSPBP1	64100	broad.mit.edu	37	19	48519159	48519159	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48519159G>A	ENST00000339841.2	+	4	396	c.218G>A	c.(217-219)cGc>cAc	p.R73H	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	73	Fibronectin type-II 2.				single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		GATTACCCACGCTGTATCTTC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								A	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	108	85	93		218	2.3	0.8	19		93	0,8600		0,0,4300	no	missense	ELSPBP1	NM_022142.4	29	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging	73/224	48519159	1,13005	2203	4300	6503	SO:0001583	missense			AJ278478	CCDS12708.1	19q13.33	2009-09-17					64100	64100			14417	protein-coding gene	gene with protein product	epididymal protein 12	607443			NA		Standard		NM_022142	NA	Approved	HE12, E12, EDDM12	uc002pht.3	Q96BH3		ENST00000339841.2:c.218G>A	19.37:g.48519159G>A	ENSP00000340660:p.Arg73His	NA	Q96RT0|Q9H4C8	37	CCDS12708.1	.	.	.	.	.	.	.	.	.	.	g	8.098	0.776018	0.16051	2.27E-4	0.0	ENSG00000169393	ENST00000339841	T	0.09817	2.94	3.4	2.35	0.29111	Fibronectin, type II, collagen-binding (3);Kringle-like fold (1);	0.186449	0.24554	N	0.037536	T	0.09555	0.0235	M	0.62016	1.91	0.19945	N	0.999947	P	0.44521	0.837	B	0.38106	0.265	T	0.22312	-1.0220	10	0.15952	T	0.53	.	7.4446	0.27203	0.1314:0.0:0.8686:0.0	.	73	Q96BH3	ESPB1_HUMAN	H	73	ENSP00000340660:R73H	ENSP00000340660:R73H	R	+	2	0	ELSPBP1	53210971	0.746000	0.28272	0.802000	0.32245	0.261000	0.26267	0.922000	0.28734	0.710000	0.31997	-0.246000	0.11932	CGC	ELSPBP1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465207.1		+	ENST00000339841.2	Missense_Mutation	SNP	19 : 48519159 - 48519159 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	241	63
ZNF521	25925	broad.mit.edu	37	18	22806822	22806822	+	Missense_Mutation	SNP	C	C	T	rs140504840		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22806822C>T	ENST00000361524.3	-	4	1208	c.1060G>A	c.(1060-1062)Gtg>Atg	p.V354M	ZNF521_ENST00000584787.1_Missense_Mutation_p.V134M|ZNF521_ENST00000538137.2_Missense_Mutation_p.V354M	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	354					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GTACTGGACACGGAGGTATAG	0.577		NA	T	PAX5	ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0								C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	88	82	84		1060	6.2	1	18	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ZNF521	NM_015461.2	21	0,2,6501	TT,TC,CC	NA	0.0116,0.0227,0.0154	benign	354/1312	22806822	2,13004	2203	4300	6503	SO:0001583	missense			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795	25925	25925		Zinc fingers, C2H2-type	24605	protein-coding gene	gene with protein product	early hematopoietic zinc finger	610974			NA	11984006, 14630787	Standard	NM_015461	NM_015461	NA	Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1060G>A	18.37:g.22806822C>T	ENSP00000354794:p.Val354Met	NA	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	37	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.376385	0.24857	2.27E-4	1.16E-4	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.09255	3.0;3.04	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.03651	0.0104	N	0.01576	-0.805	0.40687	D	0.982362	P	0.35411	0.5	B	0.23150	0.044	T	0.55354	-0.8154	10	0.28530	T	0.3	-26.4043	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	354	Q96K83	ZN521_HUMAN	M	354;388;354	ENSP00000354794:V354M;ENSP00000382352:V354M	ENSP00000354794:V354M	V	-	1	0	ZNF521	21060820	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	5.743000	0.68655	2.941000	0.99782	0.655000	0.94253	GTG	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000446781.2		-	ENST00000361524.3	Missense_Mutation	SNP	18 : 22806822 - 22806822 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	373	88
EGF	1950	broad.mit.edu	37	4	110897320	110897320	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110897320C>T	ENST00000509793.1	+	12	2308	c.1856C>T	c.(1855-1857)gCc>gTc	p.A619V	EGF_ENST00000503392.1_Missense_Mutation_p.A661V|EGF_ENST00000265171.5_Missense_Mutation_p.A661V	NM_001178131.1	NP_001171602.1	P01133	EGF_HUMAN	epidermal growth factor	661					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TGGTGCGATGCCAAGCAGTCT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	123	129			NA	NA	4		NA											NA				110897320		2203	4300	6503	SO:0001583	missense			X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798	1950	1950			3229	protein-coding gene	gene with protein product		131530	epidermal growth factor (beta-urogastrone)		NA		Standard		NM_001963	NA	Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000509793.1:c.1856C>T	4.37:g.110897320C>T	ENSP00000424316:p.Ala619Val	NA	B4DRK7|E9PBF0|Q52LZ6	37	CCDS54795.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164830	0.78339	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.96073	-3.9;-3.9;-3.9	5.77	4.93	0.64822	Six-bladed beta-propeller, TolB-like (1);	0.505033	0.23461	N	0.047937	D	0.97133	0.9063	M	0.86864	2.845	0.35014	D	0.757176	P;B;P	0.49358	0.923;0.426;0.923	P;B;P	0.54174	0.744;0.36;0.676	D	0.99968	1.1898	10	0.87932	D	0	.	14.364	0.66792	0.0:0.9298:0.0:0.0702	.	661;619;661	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	V	619;661;661	ENSP00000424316:A619V;ENSP00000265171:A661V;ENSP00000421384:A661V	ENSP00000265171:A661V	A	+	2	0	EGF	111116769	1.000000	0.71417	0.970000	0.41538	0.995000	0.86356	2.021000	0.41020	1.440000	0.47531	0.655000	0.94253	GCC	EGF-002	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363798.2		+	ENST00000509793.1	Missense_Mutation	SNP	4 : 110897320 - 110897320 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	343	72
RASD2	23551	broad.mit.edu	37	22	35947670	35947670	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:35947670C>T	ENST00000216127.4	+	3	1034	c.392C>T	c.(391-393)gCg>gTg	p.A131V		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	131					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						AAGGAGGCGGCGGAGCTGCCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	VAL/ALA	0,4406		0,0,2203	75	68	70		392	3.6	0.6	22		70	1,8599	1.2+/-3.3	0,1,4299	no	missense	RASD2	NM_014310.3	64	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign	131/267	35947670	1,13005	2203	4300	6503	SO:0001583	missense			AF279143	CCDS13916.1	22q13.1	2014-05-09			ENSG00000100302	ENSG00000100302	23551	23551			18229	protein-coding gene	gene with protein product	tumor endothelial marker 2, Ras homolog enriched in striatum	612842			NA	10947988, 10467249, 14724584	Standard	NM_014310	NM_014310	NA	Approved	TEM2, Rhes, MGC:4834	uc003anx.3	Q96D21	OTTHUMG00000150607	ENST00000216127.4:c.392C>T	22.37:g.35947670C>T	ENSP00000216127:p.Ala131Val	NA	O95520|Q5THY8	37	CCDS13916.1	.	.	.	.	.	.	.	.	.	.	C	8.753	0.921724	0.17982	0.0	1.16E-4	ENSG00000100302	ENST00000216127	T	0.77358	-1.09	5.72	3.6	0.41247	Small GTP-binding protein domain (1);	0.291299	0.39083	N	0.001465	T	0.58821	0.2149	N	0.04162	-0.26	0.32629	N	0.522231	B	0.12630	0.006	B	0.13407	0.009	T	0.56062	-0.8041	10	0.27082	T	0.32	.	16.9288	0.86184	0.0:0.5053:0.4947:0.0	.	131	Q96D21	RHES_HUMAN	V	131	ENSP00000216127:A131V	ENSP00000216127:A131V	A	+	2	0	RASD2	34277616	0.844000	0.29557	0.620000	0.29132	0.949000	0.60115	1.492000	0.35594	0.746000	0.32786	0.561000	0.74099	GCG	RASD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319063.1		+	ENST00000216127.4	Missense_Mutation	SNP	22 : 35947670 - 35947670 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	33
SPDYE3	441272	broad.mit.edu	37	7	99909548	99909548	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99909548G>A	ENST00000332397.6	+	4	904	c.720G>A	c.(718-720)tcG>tcA	p.S240S	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	240										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GGCGAGTGTCGCTCGTGCTCC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													6	7	7			NA	NA	7		NA											NA				99909548		1180	3211	4391	SO:0001819	synonymous_variant			BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300	441272	441272		Speedy homologs	35462	protein-coding gene	gene with protein product			speedy homolog E3 (Xenopus laevis)		NA		Standard	NM_001004351	NM_001004351	NA	Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.720G>A	7.37:g.99909548G>A		NA	Q495Y9|Q6PHC4	37	CCDS47658.2																																																																																			SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340224.2		+	ENST00000332397.6	Silent	SNP	7 : 99909548 - 99909548 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	575	89
GIT2	9815	broad.mit.edu	37	12	110385234	110385234	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110385234A>G	ENST00000355312.3	-	15	1467	c.1468T>C	c.(1468-1470)Tct>Cct	p.S490P	GIT2_ENST00000338373.5_Intron|GIT2_ENST00000356259.4_Intron|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000343646.5_Missense_Mutation_p.S410P|GIT2_ENST00000360185.4_Missense_Mutation_p.S440P|GIT2_ENST00000547815.1_3'UTR|GIT2_ENST00000361006.5_Missense_Mutation_p.S490P|GIT2_ENST00000354574.4_Missense_Mutation_p.S442P|GIT2_ENST00000457474.2_Missense_Mutation_p.S442P|GIT2_ENST00000553118.1_Intron|GIT2_ENST00000551209.1_Missense_Mutation_p.S439P	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	490					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						GTGTACTCAGAACCAGTTTGC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	138	142			NA	NA	12		NA											NA				110385234		2203	4300	6503	SO:0001583	missense			AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436	9815	9815		ADP-ribosylation factor GTPase activating proteins, Ankyrin repeat domain containing	4273	protein-coding gene	gene with protein product		608564	G protein-coupled receptor kinase interactor 2		NA	9826657, 10896954	Standard	NM_057169	NM_139201	NA	Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.1468T>C	12.37:g.110385234A>G	ENSP00000347464:p.Ser490Pro	NA	Q86U59|Q96CI2|Q9BV91|Q9Y5V2	37	CCDS9138.1	.	.	.	.	.	.	.	.	.	.	A	12.18	1.859134	0.32884	.	.	ENSG00000139436	ENST00000355312;ENST00000360185;ENST00000354574;ENST00000343646;ENST00000457474;ENST00000361006;ENST00000551209;ENST00000542273	T;T;T;T;T;T;T	0.73469	-0.68;-0.67;-0.75;-0.75;-0.71;-0.68;-0.7	5.97	2.31	0.28768	.	0.321561	0.39407	N	0.001373	T	0.55081	0.1898	N	0.21097	0.63	0.80722	D	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.003;0.003;0.0;0.0;0.0	T	0.34551	-0.9824	10	0.29301	T	0.29	.	6.4932	0.22127	0.7301:0.1324:0.1375:0.0	.	442;442;490;428;490	Q14161-10;F8WAK2;Q14161;B4E027;Q14161-5	.;.;GIT2_HUMAN;.;.	P	490;440;442;410;442;490;439;428	ENSP00000347464:S490P;ENSP00000353312:S440P;ENSP00000346585:S442P;ENSP00000340938:S410P;ENSP00000391813:S442P;ENSP00000354282:S490P;ENSP00000448832:S439P	ENSP00000340938:S410P	S	-	1	0	GIT2	108869617	0.989000	0.36119	0.995000	0.50966	0.980000	0.70556	0.569000	0.23638	0.156000	0.19299	-0.472000	0.04984	TCT	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403407.1		-	ENST00000355312.3	Missense_Mutation	SNP	12 : 110385234 - 110385234 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	574	103
THBS1	7057	broad.mit.edu	37	15	39886550	39886550	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:39886550C>T	ENST00000260356.5	+	21	3579	c.3414C>T	c.(3412-3414)atC>atT	p.I1138I		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1138	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CAGGACCCATCTATGATAAAA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	132	134			NA	NA	15		NA											NA				39886550		2200	4297	6497	SO:0001819	synonymous_variant				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801	7057	7057			11785	protein-coding gene	gene with protein product	thrombospondin-1p180	188060			NA	2341158, 2335352	Standard	NM_003246	NM_003246	NA	Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.3414C>T	15.37:g.39886550C>T		NA	A8K6H4|B9EGH6|Q15667	37	CCDS32194.1																																																																																			THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257831.2		+	ENST00000260356.5	Silent	SNP	15 : 39886550 - 39886550 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	451	74
ARAP1	116985	broad.mit.edu	37	11	72423582	72423582	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72423582G>A	ENST00000359373.5	-	6	1630	c.779C>T	c.(778-780)gCc>gTc	p.A260V	ARAP1_ENST00000334211.8_Missense_Mutation_p.A15V|ARAP1_ENST00000426523.1_Missense_Mutation_p.A15V|ARAP1_ENST00000429686.1_Missense_Mutation_p.A15V|ARAP1_ENST00000455638.2_Missense_Mutation_p.A260V|ARAP1_ENST00000393605.3_Missense_Mutation_p.A20V|ARAP1_ENST00000393609.3_Missense_Mutation_p.A260V			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	260					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CACGCGCACGGCCCGTGGGAC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(102;1198 1520 13195 17913 37529)							NA				0													139	118	125			NA	NA	11		NA											NA				72423582		2200	4293	6493	SO:0001583	missense			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635	116985	116985		ADP-ribosylation factor GTPase activating proteins, Sterile alpha motif (SAM) domain containing, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing	16925	protein-coding gene	gene with protein product		606646	centaurin, delta 2	CENTD2	NA		Standard	NM_001040118	NM_001040118	NA	Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000359373.5:c.779C>T	11.37:g.72423582G>A	ENSP00000352332:p.Ala260Val	NA	A3KLL7|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	37		.	.	.	.	.	.	.	.	.	.	G	17.70	3.453783	0.63290	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000340247	T;T;T;T;T;T;T	0.07567	3.18;3.18;3.18;3.24;3.19;3.24;3.18	4.34	4.34	0.51931	.	0.493437	0.17716	N	0.164432	T	0.06462	0.0166	L	0.27053	0.805	0.30659	N	0.754637	B;B;P;P;P	0.42908	0.437;0.437;0.793;0.689;0.573	B;B;B;B;B	0.35182	0.046;0.046;0.197;0.097;0.099	T	0.06162	-1.0842	10	0.72032	D	0.01	.	12.2025	0.54335	0.0:0.0:1.0:0.0	.	15;15;260;260;20	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	V	260;260;20;15;260;15;15;49	ENSP00000352332:A260V;ENSP00000390461:A260V;ENSP00000377230:A20V;ENSP00000335506:A15V;ENSP00000377233:A260V;ENSP00000392264:A15V;ENSP00000403127:A15V	ENSP00000335506:A15V	A	-	2	0	ARAP1	72101230	0.992000	0.36948	0.998000	0.56505	0.887000	0.51463	4.806000	0.62569	2.250000	0.74265	0.561000	0.74099	GCC	ARAP1-002	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000347429.2		-	ENST00000359373.5	Missense_Mutation	SNP	11 : 72423582 - 72423582 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1469	271
SLC5A7	60482	broad.mit.edu	37	2	108626966	108626966	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:108626966C>T	ENST00000264047.2	+	9	1668	c.1392C>T	c.(1390-1392)ggC>ggT	p.G464G	SLC5A7_ENST00000409059.1_Silent_p.G464G|SLC5A7_ENST00000540517.1_Silent_p.G359G	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	464					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TCTACCCTGGCTATTACCCTG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	108	108			NA	NA	2		NA											NA				108626966		2203	4300	6503	SO:0001819	synonymous_variant			AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665	60482	60482		Solute carriers	14025	protein-coding gene	gene with protein product		608761	solute carrier family 5 (choline transporter), member 7		NA	11027560	Standard		NM_021815	NA	Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.1392C>T	2.37:g.108626966C>T		NA	Q53TF2	37	CCDS2074.1																																																																																			SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253562.1		+	ENST00000264047.2	Silent	SNP	2 : 108626966 - 108626966 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	559	84
SRRM1	10250	broad.mit.edu	37	1	24993313	24993313	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24993313C>T	ENST00000323848.9	+	13	1951	c.1636C>T	c.(1636-1638)Cgg>Tgg	p.R546W	SRRM1_ENST00000374389.4_Missense_Mutation_p.R555W|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.R558W	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	546	Arg-rich.|Necessary for speckles and matrix localization.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TAGTGGTAGACGGAGGAGAAG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(68;897 1494 3282 17478)							NA				0													45	41	43			NA	NA	1		NA											NA				24993313		2203	4300	6503	SO:0001583	missense			AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226	10250	10250			16638	protein-coding gene	gene with protein product	Ser/Arg-related nuclear matrix protein, plenty of prolines 101-like	605975			NA	9531537	Standard	NM_005839	NM_005839	NA	Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.1636C>T	1.37:g.24993313C>T	ENSP00000326261:p.Arg546Trp	NA	O60585|Q5VVN4	37	CCDS255.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.865956	0.51588	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.58210	0.35;0.39;0.39	5.75	3.84	0.44239	.	0.000000	0.56097	D	0.000026	T	0.50411	0.1614	L	0.53249	1.67	0.80722	D	1	D;D	0.67145	0.996;0.993	P;B	0.47744	0.556;0.353	T	0.51293	-0.8724	10	0.72032	D	0.01	-1.6334	7.3672	0.26781	0.3668:0.5543:0.0:0.079	.	558;546	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	W	546;558;555	ENSP00000326261:R546W;ENSP00000391430:R558W;ENSP00000363510:R555W	ENSP00000326261:R546W	R	+	1	2	SRRM1	24865900	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.679000	0.37597	0.723000	0.32274	0.650000	0.86243	CGG	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000009292.2		+	ENST00000323848.9	Missense_Mutation	SNP	1 : 24993313 - 24993313 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	45
SLC17A2	10246	broad.mit.edu	37	6	25913550	25913550	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25913550G>A	ENST00000360488.3	-	11	1701	c.1284C>T	c.(1282-1284)gcC>gcT	p.A428A	SLC17A2_ENST00000377850.3_Missense_Mutation_p.L478F|SLC17A2_ENST00000265425.3_3'UTR	NM_005835.2	NP_005826.1	O00624	NPT3_HUMAN	solute carrier family 17, member 2	0					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						TGTCCTCAGAGGCGGGTAAGG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	132	135			NA	NA	6		NA											NA				25913550		2203	4300	6503	SO:0001819	synonymous_variant			U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337	10246	10246		Solute carriers	10930	protein-coding gene	gene with protein product		611049	solute carrier family 17 (sodium phosphate), member 2		NA	9149941	Standard		NM_001286123	NA	Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000360488.3:c.1284C>T	6.37:g.25913550G>A		NA	A6NLD6|Q5TB84|Q76P85	37	CCDS4567.1	.	.	.	.	.	.	.	.	.	.	G	9.566	1.119743	0.20877	.	.	ENSG00000112337	ENST00000377850	T	0.65732	-0.17	5.19	3.19	0.36642	.	0.238834	0.30142	N	0.010305	T	0.45975	0.1369	.	.	.	0.09310	N	1	P	0.52170	0.951	P	0.49301	0.606	T	0.40270	-0.9572	9	0.87932	D	0	.	5.9941	0.19483	0.108:0.1876:0.7045:0.0	.	478	A6NK81	.	F	478	ENSP00000367081:L478F	ENSP00000367081:L478F	L	-	1	0	SLC17A2	26021529	0.944000	0.32072	0.801000	0.32222	0.001000	0.01503	0.297000	0.19101	1.490000	0.48466	-0.355000	0.07637	CTC	SLC17A2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040074.1		-	ENST00000360488.3	Silent	SNP	6 : 25913550 - 25913550 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	750	120
DPYS	1807	broad.mit.edu	37	8	105459595	105459595	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105459595G>A	ENST00000351513.2	-	3	692	c.560C>T	c.(559-561)gCa>gTa	p.A187V		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	187					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTGGGCAATTGCTCCAATTTC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	111	114			NA	NA	8		NA											NA				105459595		2203	4300	6503	SO:0001583	missense			D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647	1807	1807			3013	protein-coding gene	gene with protein product		613326			NA	8973361	Standard	NM_001385	NM_001385	NA	Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.560C>T	8.37:g.105459595G>A	ENSP00000276651:p.Ala187Val	NA		37	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	G	35	5.583454	0.96578	.	.	ENSG00000147647	ENST00000351513;ENST00000521573	D;D	0.90844	-2.74;-2.65	6.02	6.02	0.97574	Amidohydrolase 1 (1);	0.050856	0.85682	D	0.000000	D	0.95140	0.8425	M	0.76727	2.345	0.58432	D	0.999998	D	0.67145	0.996	D	0.64877	0.93	D	0.94741	0.7919	10	0.72032	D	0.01	-23.932	20.547	0.99278	0.0:0.0:1.0:0.0	.	187	Q14117	DPYS_HUMAN	V	187;134	ENSP00000276651:A187V;ENSP00000430246:A134V	ENSP00000276651:A187V	A	-	2	0	DPYS	105528771	1.000000	0.71417	0.933000	0.37362	0.954000	0.61252	9.476000	0.97823	2.850000	0.98022	0.650000	0.86243	GCA	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380814.1		-	ENST00000351513.2	Missense_Mutation	SNP	8 : 105459595 - 105459595 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	350	67
N4BP3	23138	broad.mit.edu	37	5	177547450	177547450	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177547450C>A	ENST00000274605.5	+	3	961	c.602C>A	c.(601-603)cCt>cAt	p.P201H		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	201						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTCGCAGTCCTGGTACTGGC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	56	55			NA	NA	5		NA											NA				177547450		2203	4299	6502	SO:0001583	missense			AB002339	CCDS34307.1	5q35.3	2012-05-17				ENSG00000145911	23138	23138			29852	protein-coding gene	gene with protein product					NA	9205841, 11717310	Standard	NM_015111	XM_006714834	NA	Approved	LZTS4	uc003mik.1	O15049		ENST00000274605.5:c.602C>A	5.37:g.177547450C>A	ENSP00000274605:p.Pro201His	NA	B4DIL3|D3DWP3|Q6ZSQ6|Q7Z6I3	37	CCDS34307.1	.	.	.	.	.	.	.	.	.	.	C	9.160	1.018433	0.19355	.	.	ENSG00000145911	ENST00000274605	T	0.52526	0.66	4.12	4.12	0.48240	.	0.545059	0.20739	N	0.086573	T	0.34366	0.0895	N	0.19112	0.55	0.42593	D	0.993259	B	0.32693	0.38	B	0.37198	0.243	T	0.09509	-1.0671	10	0.15066	T	0.55	-11.2901	14.6728	0.68956	0.0:1.0:0.0:0.0	.	201	O15049	N4BP3_HUMAN	H	201	ENSP00000274605:P201H	ENSP00000274605:P201H	P	+	2	0	N4BP3	177480056	0.006000	0.16342	0.719000	0.30619	0.142000	0.21351	1.188000	0.32102	2.598000	0.87819	0.655000	0.94253	CCT	N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373552.2		+	ENST00000274605.5	Missense_Mutation	SNP	5 : 177547450 - 177547450 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	531	161
SEMA3D	223117	broad.mit.edu	37	7	84666282	84666282	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:84666282G>T	ENST00000284136.6	-	10	1157	c.1114C>A	c.(1114-1116)Cca>Aca	p.P372T	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	372	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGAGCATATGGACCATTAAAA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(63;442 1191 17318 29975 31528)							NA				0													128	111	117			NA	NA	7		NA											NA				84666282		2203	4300	6503	SO:0001583	missense			BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993	223117	223117		Semaphorins, Immunoglobulin superfamily / V-set domain containing	10726	protein-coding gene	gene with protein product		609907			NA		Standard	NM_152754	NM_152754	NA	Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1114C>A	7.37:g.84666282G>T	ENSP00000284136:p.Pro372Thr	NA	A6NK46|Q6UW77|Q8NCQ1	37	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067582	0.76301	.	.	ENSG00000153993	ENST00000284136	T	0.24151	1.87	5.89	5.89	0.94794	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.046255	0.85682	D	0.000000	T	0.62600	0.2441	M	0.91038	3.17	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.69760	-0.5058	10	0.87932	D	0	.	20.2508	0.98407	0.0:0.0:1.0:0.0	.	372	O95025	SEM3D_HUMAN	T	372	ENSP00000284136:P372T	ENSP00000284136:P372T	P	-	1	0	SEMA3D	84504218	1.000000	0.71417	0.947000	0.38551	0.396000	0.30629	9.773000	0.98989	2.788000	0.95919	0.585000	0.79938	CCA	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336084.2		-	ENST00000284136.6	Missense_Mutation	SNP	7 : 84666282 - 84666282 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	510	103
SERTAD4	56256	broad.mit.edu	37	1	210415325	210415325	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210415325G>A	ENST00000367012.3	+	4	944	c.714G>A	c.(712-714)ccG>ccA	p.P238P	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	238	Ser-rich.						protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		TGCCTTTACCGAGTTGTTCCC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	60	61			NA	NA	1		NA											NA				210415325		2203	4300	6503	SO:0001819	synonymous_variant			BC012083	CCDS1494.1	1q32.1-q41	2008-02-05			ENSG00000082497	ENSG00000082497	56256	56256			25236	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_019605	NM_019605	NA	Approved	DJ667H12.2	uc001hhy.3	Q9NUC0	OTTHUMG00000036391	ENST00000367012.3:c.714G>A	1.37:g.210415325G>A		NA	B2RD32	37	CCDS1494.1																																																																																			SERTAD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088577.1		+	ENST00000367012.3	Silent	SNP	1 : 210415325 - 210415325 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	383	77
ANKMY1	51281	broad.mit.edu	37	2	241468599	241468599	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241468599G>A	ENST00000403283.1	-	5	877				ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.P270S|ANKMY1_ENST00000391987.1_Missense_Mutation_p.P181S|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.P181S|ANKMY1_ENST00000405523.3_Intron			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	NA							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CTTGTCATGGGCAGGTGGTCA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	146	147			NA	NA	2		NA											NA				241468599		2203	4300	6503	SO:0001627	intron_variant			AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504	51281	51281		Zinc fingers, MYND-type, Ankyrin repeat domain containing	20987	protein-coding gene	gene with protein product					NA		Standard	NM_017844	XM_005247020	NA	Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000403283.1:c.718-3333C>T	2.37:g.241468599G>A		NA	B2RB78|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.23|16.23	3.064013|3.064013	0.55432|0.55432	.|.	.|.	ENSG00000144504|ENSG00000144504	ENST00000443318|ENST00000272972;ENST00000391987;ENST00000401804;ENST00000539830;ENST00000418708	.|T;T;T;T	.|0.39997	.|1.05;1.05;1.05;1.05	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	.|0.075541	.|0.52532	.|D	.|0.000066	T|T	0.65770|0.65770	0.2723|0.2723	M|M	0.77616|0.77616	2.38|2.38	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.76575	.|0.988;0.988	T|T	0.69308|0.69308	-0.5179|-0.5179	5|10	.|0.62326	.|D	.|0.03	-6.3456|-6.3456	16.267|16.267	0.82593|0.82593	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|181;181	.|Q4ZFV3;Q9P2S6	.|.;ANKY1_HUMAN	V|S	125|181;181;270;181;181	.|ENSP00000272972:P181S;ENSP00000375847:P181S;ENSP00000385887:P270S;ENSP00000407015:P181S	.|ENSP00000272972:P181S	A|P	-|-	2|1	0|0	ANKMY1|ANKMY1	241117272|241117272	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.019000|0.019000	0.09904|0.09904	4.237000|4.237000	0.58681|0.58681	2.526000|2.526000	0.85167|0.85167	0.655000|0.655000	0.94253|0.94253	GCC|CCC	ANKMY1-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000325900.2		-	ENST00000403283.1	Intron	SNP	2 : 241468599 - 241468599 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	416	112
APBA1	320	broad.mit.edu	37	9	72064647	72064647	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72064647G>A	ENST00000265381.4	-	10	2256	c.2034C>T	c.(2032-2034)tcC>tcT	p.S678S		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	678	PDZ 1.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TGGGGAGGATGGATCCCCAGC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	88	92			NA	NA	9		NA											NA				72064647		2203	4300	6503	SO:0001819	synonymous_variant			AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282	320	320			578	protein-coding gene	gene with protein product		602414		MINT1	NA	7678331, 7719031	Standard	NM_001163	NM_001163	NA	Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.2034C>T	9.37:g.72064647G>A		NA	O14914|O60570|Q5VYR8	37	CCDS6630.1																																																																																			APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052589.2		-	ENST00000265381.4	Silent	SNP	9 : 72064647 - 72064647 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	472	87
CEBPZ	10153	broad.mit.edu	37	2	37454764	37454764	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37454764G>T	ENST00000234170.5	-	2	1717	c.1572C>A	c.(1570-1572)gtC>gtA	p.V524V		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	524					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)				TTAAAGCCTGGACACTGGTAT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	111	111			NA	NA	2		NA											NA				37454764		2203	4300	6503	SO:0001819	synonymous_variant			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.1572C>A	2.37:g.37454764G>T		NA	Q8NE75	37	CCDS1787.1																																																																																			CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000218569.2		-	ENST00000234170.5	Silent	SNP	2 : 37454764 - 37454764 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	682	121
PLS1	5357	broad.mit.edu	37	3	142408575	142408575	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142408575C>T	ENST00000337777.3	+	10	1310	c.1097C>T	c.(1096-1098)gCt>gTt	p.A366V	PLS1_ENST00000457734.2_Missense_Mutation_p.A366V|PLS1_ENST00000497002.1_Missense_Mutation_p.A366V	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	366	Actin-binding 1.|CH 2.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						CTTAATTTAGCTTTTGTAGCT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	115	117			NA	NA	3		NA											NA				142408575		2203	4300	6503	SO:0001583	missense			L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756	5357	5357		EF-hand domain containing	9090	protein-coding gene	gene with protein product		602734	plastin 1 (I isoform)		NA	8139549	Standard	NM_002670	NM_002670	NA	Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.1097C>T	3.37:g.142408575C>T	ENSP00000336831:p.Ala366Val	NA	A8K2Q1|D3DNG3|Q8NEG6	37	CCDS3125.1	.	.	.	.	.	.	.	.	.	.	C	34	5.370985	0.95923	.	.	ENSG00000120756	ENST00000457734;ENST00000337777;ENST00000497002	D;D;D	0.95272	-3.66;-3.66;-3.66	5.73	5.73	0.89815	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97126	0.9061	H	0.94847	3.59	0.80722	D	1	D	0.61080	0.989	P	0.48982	0.597	D	0.97934	1.0322	10	0.87932	D	0	-14.021	19.8966	0.96963	0.0:1.0:0.0:0.0	.	366	Q14651	PLSI_HUMAN	V	366	ENSP00000387890:A366V;ENSP00000336831:A366V;ENSP00000418700:A366V	ENSP00000336831:A366V	A	+	2	0	PLS1	143891265	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.748000	0.85085	2.700000	0.92200	0.655000	0.94253	GCT	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354435.1		+	ENST00000337777.3	Missense_Mutation	SNP	3 : 142408575 - 142408575 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	464	86
OR4C11	219429	broad.mit.edu	37	11	55371093	55371093	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55371093T>C	ENST00000302231.4	-	1	781	c.757A>G	c.(757-759)Ata>Gta	p.I253V		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TATATGAATATACATGGGCCA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	57	60			NA	NA	11		NA											NA				55371093		2179	4005	6184	SO:0001583	missense			AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188	219429	219429		GPCR / Class A : Olfactory receptors	15167	protein-coding gene	gene with protein product				OR4C11P	NA		Standard	NM_001004700	NM_001004700	NA	Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.757A>G	11.37:g.55371093T>C	ENSP00000306651:p.Ile253Val	NA	B9EIL4|Q8NGL8	37	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	T	10.10	1.256781	0.22965	.	.	ENSG00000172188	ENST00000302231	T	0.38887	1.11	4.12	2.99	0.34606	GPCR, rhodopsin-like superfamily (1);	0.112156	0.39083	N	0.001478	T	0.39091	0.1065	L	0.49640	1.575	0.09310	N	0.999997	B	0.25312	0.123	B	0.34590	0.186	T	0.38824	-0.9643	10	0.54805	T	0.06	.	8.5156	0.33244	0.0:0.0955:0.0:0.9045	.	253	Q6IEV9	OR4CB_HUMAN	V	253	ENSP00000306651:I253V	ENSP00000306651:I253V	I	-	1	0	OR4C11	55127669	0.000000	0.05858	0.836000	0.33094	0.019000	0.09904	-0.592000	0.05747	0.755000	0.32990	0.391000	0.25812	ATA	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383268.1		-	ENST00000302231.4	Missense_Mutation	SNP	11 : 55371093 - 55371093 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	492	102
ZC3H15	55854	broad.mit.edu	37	2	187370212	187370212	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:187370212C>T	ENST00000337859.6	+	7	979	c.752C>T	c.(751-753)aCt>aTt	p.T251I	ZC3H15_ENST00000544130.1_Missense_Mutation_p.T46I	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	251	Required for interaction with DRG1 (By similarity).					cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			ACCAAAATCACTCTAGAATCT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	80	80			NA	NA	2		NA											NA				187370212		1834	4088	5922	SO:0001583	missense				CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548	55854	55854		Zinc fingers, CCCH-type domain containing	29528	protein-coding gene	gene with protein product	likely ortholog of mouse immediate early response, erythropoietin 4				NA	10880228	Standard	NM_018471	NM_018471	NA	Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.752C>T	2.37:g.187370212C>T	ENSP00000338788:p.Thr251Ile	NA	D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	37	CCDS42791.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096806	0.94197	.	.	ENSG00000065548	ENST00000337859;ENST00000544130;ENST00000536434	T	0.58797	0.31	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.82674	0.5088	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.84774	0.0769	10	0.87932	D	0	-7.9277	20.8794	0.99867	0.0:1.0:0.0:0.0	.	251	Q8WU90	ZC3HF_HUMAN	I	251;46;251	ENSP00000338788:T251I	ENSP00000338788:T251I	T	+	2	0	ZC3H15	187078457	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.312000	0.78968	2.941000	0.99782	0.655000	0.94253	ACT	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334547.2		+	ENST00000337859.6	Missense_Mutation	SNP	2 : 187370212 - 187370212 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	363	80
IKBKB	3551	broad.mit.edu	37	8	42178258	42178258	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42178258C>T	ENST00000520810.1	+	16	1770	c.1584C>T	c.(1582-1584)aaC>aaT	p.N528N	IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Silent_p.N526N|IKBKB_ENST00000416505.2_Silent_p.N469N|IKBKB_ENST00000379708.3_Silent_p.N305N	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	528					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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 transcription, DNA-dependent|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	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	ATTAGGAGAACGAAGTGAAAC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,	0,4406		0,0,2203	81	82	82		1578,1407,1584	-8.3	0.9	8		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	IKBKB	NM_001190720.2,NM_001242778.1,NM_001556.2	,,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,,	526/755,469/698,528/757	42178258	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365	3551	3551			5960	protein-coding gene	gene with protein product		603258			NA	9878263, 9763654	Standard		NM_001556	NA	Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.1584C>T	8.37:g.42178258C>T		NA	B4DZ30|O75327	37	CCDS6128.1																																																																																			IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377214.1		+	ENST00000520810.1	Silent	SNP	8 : 42178258 - 42178258 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	587	111
STXBP2	6813	broad.mit.edu	37	19	7707143	7707143	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7707143G>A	ENST00000441779.2	+	9	788	c.751G>A	c.(751-753)Gtg>Atg	p.V251M	STXBP2_ENST00000414284.2_Missense_Mutation_p.V237M|STXBP2_ENST00000221283.5_Missense_Mutation_p.V240M	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN	syntaxin binding protein 2	240					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						AGCTGACCCCGTGTCCCCACT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	66	66			NA	NA	19		NA											NA				7707143		2203	4300	6503	SO:0001583	missense			U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944	6813	6813			11445	protein-coding gene	gene with protein product		601717			NA	8921365	Standard	NM_006949	NM_001127396	NA	Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000441779.2:c.751G>A	19.37:g.7707143G>A	ENSP00000413606:p.Val251Met	NA	Q9BU65	37		.	.	.	.	.	.	.	.	.	.	G	14.04	2.415727	0.42817	.	.	ENSG00000076944	ENST00000221283;ENST00000414284;ENST00000441779;ENST00000543902	T;T;T	0.79845	-1.31;-1.31;-1.31	4.54	1.23	0.21249	.	0.085246	0.51477	D	0.000093	D	0.82701	0.5094	L	0.49455	1.56	0.39014	D	0.959618	D;P;D;D	0.65815	0.995;0.928;0.994;0.995	D;P;P;D	0.64144	0.922;0.862;0.872;0.922	T	0.81125	-0.1075	10	0.87932	D	0	-13.0072	8.0099	0.30347	0.2786:0.0:0.7214:0.0	.	251;206;237;240	E7EQD5;B4DY46;Q15833-2;Q15833	.;.;.;STXB2_HUMAN	M	240;237;251;240	ENSP00000221283:V240M;ENSP00000409471:V237M;ENSP00000413606:V251M	ENSP00000221283:V240M	V	+	1	0	STXBP2	7613143	1.000000	0.71417	0.093000	0.20910	0.542000	0.35054	3.277000	0.51654	0.052000	0.16007	-0.216000	0.12614	GTG	STXBP2-003	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000460961.1		+	ENST00000441779.2	Missense_Mutation	SNP	19 : 7707143 - 7707143 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	11
SEC24C	9632	broad.mit.edu	37	10	75529125	75529125	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75529125C>A	ENST00000339365.2	+	19	2607	c.2445C>A	c.(2443-2445)agC>agA	p.S815R	SEC24C_ENST00000540668.1_Missense_Mutation_p.S63R|SEC24C_ENST00000535742.1_Missense_Mutation_p.S63R|SEC24C_ENST00000345254.4_Missense_Mutation_p.S815R|SEC24C_ENST00000411652.2_Missense_Mutation_p.S696R|SEC24C_ENST00000496827.1_3'UTR	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	815					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTTACACCAGCTGTGCAGGGC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	30	31			NA	NA	10		NA											NA				75529125		2203	4300	6503	SO:0001583	missense			D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986	9632	9632			10705	protein-coding gene	gene with protein product		607185	SEC24 (S. cerevisiae) related gene family, member C, SEC24 family, member C (S. cerevisiae)		NA	10214955, 7584044	Standard		NM_004922	NA	Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.2445C>A	10.37:g.75529125C>A	ENSP00000343405:p.Ser815Arg	NA	Q8WV25	37	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807703	0.70797	.	.	ENSG00000176986	ENST00000535742;ENST00000345254;ENST00000540668;ENST00000339365;ENST00000411652	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	5.57	1.64	0.23874	Sec23/Sec24 beta-sandwich (1);	0.000000	0.85682	D	0.000000	T	0.44201	0.1282	M	0.80847	2.515	0.80722	D	1	P;D	0.62365	0.951;0.991	P;P	0.58928	0.529;0.848	T	0.47661	-0.9100	10	0.59425	D	0.04	-7.4455	10.4308	0.44407	0.0:0.6285:0.0:0.3715	.	696;815	E7EP00;P53992	.;SC24C_HUMAN	R	63;815;63;815;696	ENSP00000446174:S63R;ENSP00000321845:S815R;ENSP00000445023:S63R;ENSP00000343405:S815R;ENSP00000402913:S696R	ENSP00000343405:S815R	S	+	3	2	SEC24C	75199131	0.999000	0.42202	1.000000	0.80357	0.967000	0.64934	0.774000	0.26675	0.723000	0.32274	0.313000	0.20887	AGC	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048679.1		+	ENST00000339365.2	Missense_Mutation	SNP	10 : 75529125 - 75529125 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	174	33
STAB2	55576	broad.mit.edu	37	12	104133248	104133248	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104133248T>C	ENST00000388887.2	+	54	5958		c.e54+2			NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	NA					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AAACCAAAGGTAATTAAGACT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	99	100			NA	NA	12		NA											NA				104133248		2203	4300	6503	SO:0001630	splice_region_variant			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011	55576	55576			18629	protein-coding gene	gene with protein product	hyaluronic acid receptor for endocytosis	608561			NA	11829752, 12077138	Standard		XR_429107	NA	Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5754+2T>C	12.37:g.104133248T>C		NA	Q6ZMK2|Q7Z5N9|Q86UR4|Q8IUG9|Q8TES1|Q9H7H7|Q9NRY3	37	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.232311	0.79688	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7056	0.69189	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	STAB2	102657378	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.203000	0.65174	2.053000	0.61076	0.533000	0.62120	.	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407089.1	Intron	+	ENST00000388887.2	Splice_Site	SNP	12 : 104133248 - 104133248 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	260	60
LPHN1	22859	broad.mit.edu	37	19	14273951	14273951	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14273951T>G	ENST00000340736.6	-	6	974	c.677A>C	c.(676-678)aAc>aCc	p.N226T	CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.N221T|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000591528.1_5'UTR	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	226	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCGCTCCTTGTTGTAGAAGAC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	101	115			NA	NA	19		NA											NA				14273951		2203	4300	6503	SO:0001583	missense			AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071	22859	22859		-, GPCR / Class B : Orphans	20973	protein-coding gene	gene with protein product					NA	10994649	Standard	NM_014921	NM_014921	NA	Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.677A>C	19.37:g.14273951T>G	ENSP00000340688:p.Asn226Thr	NA	Q96IE7|Q9BU07|Q9HAR3	37	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.379385	0.82682	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	D;D	0.88586	-2.4;-2.4	4.95	4.95	0.65309	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.91908	0.7438	M	0.67700	2.07	0.54753	D	0.999988	P;D	0.55605	0.931;0.972	P;P	0.58266	0.747;0.836	D	0.92216	0.5780	10	0.56958	D	0.05	.	12.5834	0.56403	0.0:0.0:0.0:1.0	.	221;226	O94910-2;O94910	.;LPHN1_HUMAN	T	226;221	ENSP00000340688:N226T;ENSP00000355328:N221T	ENSP00000340688:N226T	N	-	2	0	LPHN1	14134951	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.969000	0.87988	1.846000	0.53633	0.533000	0.62120	AAC	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459696.1		-	ENST00000340736.6	Missense_Mutation	SNP	19 : 14273951 - 14273951 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	428	88
AHCYL1	10768	broad.mit.edu	37	1	110555585	110555585	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110555585A>C	ENST00000369799.5	+	5	911	c.544A>C	c.(544-546)Act>Cct	p.T182P	AHCYL1_ENST00000359172.3_Missense_Mutation_p.T135P|AHCYL1_ENST00000393614.4_Missense_Mutation_p.T135P|AHCYL1_ENST00000475081.1_3'UTR	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	182					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		CATCTACTCAACTCAGAATGA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	83	87			NA	NA	1		NA											NA				110555585		2203	4300	6503	SO:0001583	missense			U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710	10768	10768			344	protein-coding gene	gene with protein product	inositol 1,4,5-trisphosphate receptor-binding protein, protein phosphatase 1, regulatory subunit 78	607826	S-adenosylhomocysteine hydrolase-like 1		NA	11904675, 16754674, 12525476	Standard		NM_006621	NA	Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.544A>C	1.37:g.110555585A>C	ENSP00000358814:p.Thr182Pro	NA	Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	37	CCDS818.1	.	.	.	.	.	.	.	.	.	.	A	34	5.306786	0.95629	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	D;D;D	0.82526	-1.62;-1.62;-1.62	6.07	6.07	0.98685	S-adenosyl-L-homocysteine hydrolase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.94951	0.8367	H	0.99074	4.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97115	0.9807	10	0.87932	D	0	-17.5851	16.6406	0.85098	1.0:0.0:0.0:0.0	.	182	O43865	SAHH2_HUMAN	P	182;135;135	ENSP00000358814:T182P;ENSP00000352092:T135P;ENSP00000377238:T135P	ENSP00000352092:T135P	T	+	1	0	AHCYL1	110357108	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.313000	0.96297	2.326000	0.78906	0.533000	0.62120	ACT	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032243.1		+	ENST00000369799.5	Missense_Mutation	SNP	1 : 110555585 - 110555585 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	186	34
OTX1	5013	broad.mit.edu	37	2	63283061	63283061	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:63283061C>T	ENST00000282549.2	+	5	951	c.675C>T	c.(673-675)taC>taT	p.Y225Y	OTX1_ENST00000366671.3_Silent_p.Y225Y	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	225						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CCATGTCCTACGGCCAGGGCG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	39	39			NA	NA	2		NA											NA				63283061		2203	4300	6503	SO:0001819	synonymous_variant				CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507	5013	5013		Homeoboxes / PRD class	8521	protein-coding gene	gene with protein product		600036	orthodenticle (Drosophila) homolog 1, orthodenticle homolog 1 (Drosophila)		NA	7959790	Standard		NM_001199770	NA	Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.675C>T	2.37:g.63283061C>T		NA	Q53TG6	37	CCDS1873.1																																																																																			OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251617.1		+	ENST00000282549.2	Silent	SNP	2 : 63283061 - 63283061 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	464	109
ITGA5	3678	broad.mit.edu	37	12	54795226	54795226	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54795226G>A	ENST00000293379.4	-	24	2685	c.2424C>T	c.(2422-2424)agC>agT	p.S808S	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	808					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GATGCCAGTCGCTTACTGGGA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	129	129			NA	NA	12		NA											NA				54795226		2203	4300	6503	SO:0001819	synonymous_variant				CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638	3678	3678		CD molecules, Integrins	6141	protein-coding gene	gene with protein product		135620		FNRA	NA	2454952	Standard		NM_002205	NA	Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.2424C>T	12.37:g.54795226G>A		NA	Q96HA5	37	CCDS8880.1																																																																																			ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406174.1		-	ENST00000293379.4	Silent	SNP	12 : 54795226 - 54795226 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1031	94
ZNF782	158431	broad.mit.edu	37	9	99581465	99581465	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99581465G>T	ENST00000481138.1	-	6	1501	c.840C>A	c.(838-840)ttC>ttA	p.F280L	ZNF782_ENST00000535338.1_Missense_Mutation_p.F148L	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TGATTCTACAGAAACAATTTC	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	89	88			NA	NA	9		NA											NA				99581465		2203	4299	6502	SO:0001583	missense			AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597	158431	158431		Zinc fingers, C2H2-type, -	33110	protein-coding gene	gene with protein product					NA		Standard	NM_001001662	NM_001001662	NA	Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.840C>A	9.37:g.99581465G>T	ENSP00000419397:p.Phe280Leu	NA	B2RNR0	37	CCDS35075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.22|16.22	3.062972|3.062972	0.55432|0.55432	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000481138;ENST00000535338|ENST00000289032	T;T|.	0.05081|.	3.56;3.5|.	3.8|3.8	2.91|2.91	0.33838|0.33838	Zinc finger, C2H2 (1);|.	0.491488|.	0.15252|.	N|.	0.272278|.	T|T	0.41627|0.41627	0.1167|0.1167	L|L	0.48174|0.48174	1.505|1.505	0.20563|0.20563	N|N	0.999882|0.999882	B|.	0.25904|.	0.137|.	B|.	0.27715|.	0.082|.	T|T	0.24941|0.24941	-1.0146|-1.0146	10|5	0.59425|.	D|.	0.04|.	.|.	9.737|9.737	0.40395|0.40395	0.1042:0.0:0.8958:0.0|0.1042:0.0:0.8958:0.0	.|.	280|.	Q6ZMW2|.	ZN782_HUMAN|.	L|M	280;148|269	ENSP00000419397:F280L;ENSP00000440624:F148L|.	ENSP00000419397:F280L|.	F|L	-|-	3|1	2|2	ZNF782|ZNF782	98621286|98621286	0.867000|0.867000	0.29959|0.29959	0.093000|0.093000	0.20910|0.20910	0.015000|0.015000	0.08874|0.08874	0.649000|0.649000	0.24843|0.24843	1.202000|1.202000	0.43218|0.43218	0.650000|0.650000	0.86243|0.86243	TTC|CTG	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356810.1		-	ENST00000481138.1	Missense_Mutation	SNP	9 : 99581465 - 99581465 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	449	75
CCR1	1230	broad.mit.edu	37	3	46245532	46245532	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46245532G>A	ENST00000296140.3	-	2	398	c.273C>T	c.(271-273)atC>atT	p.I91I	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	91					cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ACTTGTAGTCGATCCAGAAGG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	142	144			NA	NA	3		NA											NA				46245532		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823	1230	1230		GPCR / Class A : Chemokine receptors : C-C motif, CD molecules	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1	NA	7679328	Standard	NM_001295	NM_001295	NA	Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.273C>T	3.37:g.46245532G>A		NA	Q86VA9	37	CCDS2737.1																																																																																			CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257325.2		-	ENST00000296140.3	Silent	SNP	3 : 46245532 - 46245532 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	462	98
CPNE4	131034	broad.mit.edu	37	3	131261625	131261625	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:131261625G>T	ENST00000512055.1	-	19	3441	c.1315C>A	c.(1315-1317)Ctg>Atg	p.L439M	CPNE4_ENST00000502818.1_Missense_Mutation_p.L457M|CPNE4_ENST00000512332.1_Missense_Mutation_p.L457M|CPNE4_ENST00000429747.1_Missense_Mutation_p.L439M|CPNE4_ENST00000511604.1_Missense_Mutation_p.L439M			Q96A23	CPNE4_HUMAN	copine IV	439	VWFA.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						AGGATCAGCAGGATGAAGTAT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	73	75			NA	NA	3		NA											NA				131261625		2203	4300	6503	SO:0001583	missense			H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353	131034	131034			2317	protein-coding gene	gene with protein product	copine 8	604208			NA	9430674, 12670487	Standard	NM_130808	XM_005247107	NA	Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.1315C>A	3.37:g.131261625G>T	ENSP00000421705:p.Leu439Met	NA	D3DNC5|Q8TEX1	37	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537760	0.65085	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.19	5.19	0.71726	von Willebrand factor, type A (1);Copine (1);	0.000000	0.85682	D	0.000000	T	0.75510	0.3859	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.81807	-0.0763	10	0.87932	D	0	-12.4491	11.784	0.52032	0.1271:0.0:0.8729:0.0	.	457;439	Q96A23-2;Q96A23	.;CPNE4_HUMAN	M	439;439;457;439;457	ENSP00000421705:L439M;ENSP00000411904:L439M;ENSP00000424853:L457M;ENSP00000423811:L439M;ENSP00000421646:L457M	ENSP00000411904:L439M	L	-	1	2	CPNE4	132744315	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.661000	0.61518	2.437000	0.82529	0.655000	0.94253	CTG	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356583.4		-	ENST00000512055.1	Missense_Mutation	SNP	3 : 131261625 - 131261625 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	64
FGFR1OP2	26127	broad.mit.edu	37	12	27116329	27116329	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:27116329G>T	ENST00000327214.5	+	5	676	c.451G>T	c.(451-453)Gcc>Tcc	p.A151S	FGFR1OP2_ENST00000229395.3_Missense_Mutation_p.A189S	NM_001171887.1	NP_001165358.1	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	189						cytoplasm				cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8	Colorectal(261;0.0847)					AATGAGGAAAGCCATTGAAAT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	80	82			NA	NA	12		NA											NA				27116329		2203	4300	6503	SO:0001583	missense			AF161472	CCDS8709.1, CCDS53766.1, CCDS53767.1	12p12.1	2014-01-28			ENSG00000111790	ENSG00000111790	26127	26127			23098	protein-coding gene	gene with protein product		608858			NA	15034873	Standard	NM_015633	NM_015633	NA	Approved	DKFZp564O1863	uc001rhm.3	Q9NVK5		ENST00000327214.5:c.451G>T	12.37:g.27116329G>T	ENSP00000323763:p.Ala151Ser	NA	Q6R955|Q8N5L7|Q9P034|Q9UFK8	37	CCDS53767.1	.	.	.	.	.	.	.	.	.	.	.	34	5.336050	0.95758	.	.	ENSG00000111790	ENST00000229395;ENST00000327214	.	.	.	5.22	5.22	0.72569	.	0.047999	0.85682	N	0.000000	D	0.83672	0.5305	M	0.82517	2.595	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.75484	0.986;0.985	D	0.84292	0.0500	9	0.52906	T	0.07	-24.0077	19.6699	0.95907	0.0:0.0:1.0:0.0	.	151;189	Q9NVK5-2;Q9NVK5	.;FGOP2_HUMAN	S	189;151	.	ENSP00000229395:A189S	A	+	1	0	FGFR1OP2	27007596	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.971000	0.93419	2.817000	0.96982	0.563000	0.77884	GCC	FGFR1OP2-004	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402965.1		+	ENST00000327214.5	Missense_Mutation	SNP	12 : 27116329 - 27116329 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	249	57
NUP214	8021	broad.mit.edu	37	9	134103652	134103652	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134103652C>A	ENST00000359428.5	+	33	6152	c.6008C>A	c.(6007-6009)cCt>cAt	p.P2003H	NUP214_ENST00000483497.2_Missense_Mutation_p.P829H|NUP214_ENST00000411637.2_Missense_Mutation_p.P1993H|NUP214_ENST00000451030.1_Missense_Mutation_p.P2004H			P35658	NU214_HUMAN	nucleoporin 214kDa	2003	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TTTACAAGCCCTCTGGGCTCG	0.637		NA	T	DEK, SET, ABL1	AML, T-ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(4;24 48 25510 30394 32571)		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0													44	48	47			NA	NA	9		NA											NA				134103652		2203	4300	6503	SO:0001583	missense			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883	8021	8021			8064	protein-coding gene	gene with protein product	nuclear pore complex protein Nup214, CAN protein, putative oncogene	114350	nucleoporin 214kD (CAIN)		NA	8108440, 2370860	Standard	NM_005085	NM_005085	NA	Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.6008C>A	9.37:g.134103652C>A	ENSP00000352400:p.Pro2003His	NA	A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	37	CCDS6940.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.48|15.48	2.844751|2.844751	0.51164|0.51164	.|.	.|.	ENSG00000126883|ENSG00000126883	ENST00000498010|ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497	.|T;T;T;T	.|0.60299	.|0.76;0.78;0.77;0.2	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	.|0.000000	.|0.43919	.|D	.|0.000503	T|T	0.60379|0.60379	0.2264|0.2264	N|N	0.08118|0.08118	0|0	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.997;0.994;0.996	T|T	0.69837|0.69837	-0.5037|-0.5037	5|10	.|0.66056	.|D	.|0.02	-22.1057|-22.1057	18.1351|18.1351	0.89616|0.89616	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|829;1597;1993;2003	.|B7ZAV2;Q5JUP9;P35658-4;P35658	.|.;.;.;NU214_HUMAN	I|H	31|2003;1993;2004;1982;1597;1432;829	.|ENSP00000352400:P2003H;ENSP00000396576:P1993H;ENSP00000405014:P2004H;ENSP00000436793:P829H	.|ENSP00000352400:P2003H	L|P	+|+	1|2	0|0	NUP214|NUP214	133093473|133093473	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.687000|5.687000	0.68219|0.68219	2.531000|2.531000	0.85337|0.85337	0.563000|0.563000	0.77884|0.77884	CTC|CCT	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054694.2		+	ENST00000359428.5	Missense_Mutation	SNP	9 : 134103652 - 134103652 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	290	45
LMX1B	4010	broad.mit.edu	37	9	129455510	129455510	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129455510C>T	ENST00000373474.4	+	4	656	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W	LMX1B_ENST00000561065.1_Missense_Mutation_p.R194W|LMX1B_ENST00000526117.1_Missense_Mutation_p.R217W|LMX1B_ENST00000425646.2_Missense_Mutation_p.R194W|LMX1B_ENST00000355497.5_Missense_Mutation_p.R217W			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	194					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GAAGGACCCGCGGAGGCCCAA	0.652		NA							Nail-Patella Syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(110;1796 2278 18357 20466)							NA				0													37	39	38			NA	NA	9		NA											NA				129455510		2202	4300	6502	SO:0001583	missense	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944	4010	4010		Homeoboxes / LIM class	6654	protein-coding gene	gene with protein product		602575		NPS1	NA	9441763, 9590287	Standard		NM_002316	NA	Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.649C>T	9.37:g.129455510C>T	ENSP00000362573:p.Arg217Trp	NA	O75463|Q5JU95|Q6ISC9	37	CCDS55342.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279243	0.59758	.	.	ENSG00000136944	ENST00000526117;ENST00000373474;ENST00000355497;ENST00000425646	T;T;D;T	0.96011	-1.12;-1.12;-3.88;-1.12	4.97	-1.69	0.08186	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95971	0.8688	L	0.51422	1.61	0.53688	D	0.999971	D;D;D	0.89917	0.997;0.998;1.0	P;P;D	0.68483	0.881;0.849;0.958	D	0.94502	0.7710	10	0.87932	D	0	.	15.8126	0.78576	0.6922:0.3078:0.0:0.0	.	194;194;217	B7ZLH2;O60663;F8VYP0	.;LMX1B_HUMAN;.	W	217;217;217;194	ENSP00000436930:R217W;ENSP00000362573:R217W;ENSP00000347684:R217W;ENSP00000390923:R194W	ENSP00000347684:R217W	R	+	1	2	LMX1B	128495331	0.003000	0.15002	0.077000	0.20336	0.916000	0.54674	0.098000	0.15189	-0.133000	0.11537	-1.797000	0.00622	CGG	LMX1B-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054123.2		+	ENST00000373474.4	Missense_Mutation	SNP	9 : 129455510 - 129455510 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	100	8
CHRM3	1131	broad.mit.edu	37	1	240072469	240072469	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240072469A>G	ENST00000255380.4	+	5	2497	c.1718A>G	c.(1717-1719)tAc>tGc	p.Y573C		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	573					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	AAGCAGCAGTACCAGCAGAGA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	48	48			NA	NA	1		NA											NA				240072469		2203	4300	6503	SO:0001583	missense			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019	1131	1131		Cholinergic receptors, GPCR / Class A : Cholinergic receptors, muscarinic	1952	protein-coding gene	gene with protein product	acetylcholine receptor, muscarinic 3	118494			NA		Standard	NM_000740	XM_005273032	NA	Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1718A>G	1.37:g.240072469A>G	ENSP00000255380:p.Tyr573Cys	NA	Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	37	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	A	16.81	3.226261	0.58668	.	.	ENSG00000133019	ENST00000255380	T	0.37235	1.21	5.58	5.58	0.84498	.	0.202097	0.43919	D	0.000502	T	0.52661	0.1748	M	0.62723	1.935	0.58432	D	0.999991	D	0.69078	0.997	P	0.56865	0.808	T	0.56884	-0.7905	10	0.87932	D	0	-18.9527	15.7553	0.78018	1.0:0.0:0.0:0.0	.	573	P20309	ACM3_HUMAN	C	573	ENSP00000255380:Y573C	ENSP00000255380:Y573C	Y	+	2	0	CHRM3	238139092	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.809000	0.69172	2.127000	0.65507	0.533000	0.62120	TAC	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095644.2		+	ENST00000255380.4	Missense_Mutation	SNP	1 : 240072469 - 240072469 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	373	58
COQ9	57017	broad.mit.edu	37	16	57490417	57490417	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57490417C>T	ENST00000567072.1	+	4	392	c.380C>T	c.(379-381)tCt>tTt	p.S127F	COQ9_ENST00000567933.1_Intron|COQ9_ENST00000262507.6_Splice_Site_p.S127F			O75208	COQ9_HUMAN	coenzyme Q9	127					ubiquinone biosynthetic process	mitochondrion				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						CTTTTGTAGTCTCTGGGTCTC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	107	111			NA	NA	16		NA											NA				57490417		2198	4300	6498	SO:0001630	splice_region_variant			BC064946	CCDS32459.1	16q13	2013-10-18	2013-10-18	2006-01-13	ENSG00000088682	ENSG00000088682	57017	57017			25302	protein-coding gene	gene with protein product		612837	chromosome 16 open reading frame 49, coenzyme Q9 homolog (yeast), coenzyme Q9 homolog (S. cerevisiae)	C16orf49	NA	19375058	Standard	NM_020312	NM_020312	NA	Approved	DKFZP434K046	uc002elq.3	O75208		ENST00000567072.1:c.379-1C>T	16.37:g.57490417C>T		NA	A8K3L2|Q7L5V7|Q7Z5T6|Q8NBL4|Q9NTJ2|Q9P056	37		.	.	.	.	.	.	.	.	.	.	C	18.23	3.578520	0.65878	.	.	ENSG00000088682	ENST00000262507	.	.	.	5.57	5.57	0.84162	.	0.148137	0.64402	D	0.000008	D	0.82898	0.5137	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.989;0.977	D;D;P;P	0.71656	0.974;0.943;0.885;0.723	D	0.84756	0.0759	9	0.72032	D	0.01	-9.4722	18.5507	0.91063	0.0:1.0:0.0:0.0	.	127;127;127;127	B4E0U3;B4DIV2;B4DEE3;O75208	.;.;.;COQ9_HUMAN	F	127	.	ENSP00000262507:S127F	S	+	2	0	COQ9	56047918	1.000000	0.71417	1.000000	0.80357	0.124000	0.20399	5.403000	0.66338	2.620000	0.88729	0.563000	0.77884	TCT	COQ9-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000432601.1	Missense_Mutation	+	ENST00000567072.1	Splice_Site	SNP	16 : 57490417 - 57490417 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	555	115
TMCC2	9911	broad.mit.edu	37	1	205210944	205210944	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205210944C>T	ENST00000358024.3	+	2	908	c.519C>T	c.(517-519)ggC>ggT	p.G173G	TMCC2_ENST00000545499.1_Silent_p.G95G|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	173						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			gcagtgggggcggcagcagcg	0.736		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													6	8	8			NA	NA	1		NA											NA				205210944		2018	3993	6011	SO:0001819	synonymous_variant			AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069	9911	9911		Transmembrane and coiled-coil domain containing	24239	protein-coding gene	gene with protein product			transmembrane and coiled-coil domains 2		NA	9455484	Standard	NM_014858	NM_014858	NA	Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.519C>T	1.37:g.205210944C>T		NA	A2RRH3|Q6ZN09	37	CCDS30984.1																																																																																			TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090383.1		+	ENST00000358024.3	Silent	SNP	1 : 205210944 - 205210944 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	125	29
MYO1A	4640	broad.mit.edu	37	12	57431699	57431699	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57431699G>A	ENST00000442789.2	-	19	2202	c.1915C>T	c.(1915-1917)Cga>Tga	p.R639*	MYO1A_ENST00000544473.1_Nonsense_Mutation_p.R477*|MYO1A_ENST00000300119.3_Nonsense_Mutation_p.R639*	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	639	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CTCAGCAATCGGTACCTTTCC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	52	52			NA	NA	12		NA											NA				57431699		2203	4300	6503	SO:0001587	stop_gained			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866	4640	4640		Myosins / Myosin superfamily : Class I	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48	NA	8884266, 12736868	Standard	NM_005379	NM_001256041	NA	Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.1915C>T	12.37:g.57431699G>A	ENSP00000393392:p.Arg639*	NA	Q9UQD7	37	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	G	38	7.067101	0.98040	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	.	.	.	5.13	3.09	0.35607	.	0.070096	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	11.0791	0.48049	0.0:0.0:0.666:0.334	.	.	.	.	X	639;639;477	.	ENSP00000300119:R639X	R	-	1	2	MYO1A	55717966	1.000000	0.71417	0.998000	0.56505	0.533000	0.34776	3.906000	0.56340	2.396000	0.81511	0.655000	0.94253	CGA	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313833.2		-	ENST00000442789.2	Nonsense_Mutation	SNP	12 : 57431699 - 57431699 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	264	47
DDX50	79009	broad.mit.edu	37	10	70673252	70673252	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70673252T>C	ENST00000373585.3	+	6	970	c.863T>C	c.(862-864)gTg>gCg	p.V288A		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	288	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						CGACATGTTGTGCTTGATGAA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	155	159			NA	NA	10		NA											NA				70673252		2203	4300	6503	SO:0001583	missense			AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625	79009	79009		DEAD-boxes	17906	protein-coding gene	gene with protein product		610373			NA	11891046	Standard	NM_024045	NM_024045	NA	Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.863T>C	10.37:g.70673252T>C	ENSP00000362687:p.Val288Ala	NA	Q5VX37|Q8WV76|Q9BWI8	37	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.316314	0.81469	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.34072	1.38	5.33	5.33	0.75918	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.107917	0.64402	D	0.000006	T	0.66005	0.2746	M	0.90019	3.08	0.51233	D	0.999912	D;D	0.63880	0.993;0.987	D;D	0.71414	0.973;0.95	T	0.74109	-0.3771	10	0.87932	D	0	-7.0503	14.1577	0.65428	0.0:0.0:0.0:1.0	.	288;288	Q9BQ39;B4DED6	DDX50_HUMAN;.	A	288	ENSP00000362687:V288A	ENSP00000362687:V288A	V	+	2	0	DDX50	70343258	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.698000	0.84413	2.138000	0.66242	0.379000	0.24179	GTG	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048363.1		+	ENST00000373585.3	Missense_Mutation	SNP	10 : 70673252 - 70673252 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	484	87
DLG2	1740	broad.mit.edu	37	11	84245751	84245751	+	Silent	SNP	G	G	A	rs149841754		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:84245751G>A	ENST00000398309.2	-	2	536	c.66C>T	c.(64-66)gaC>gaT	p.D22D	DLG2_ENST00000524982.1_Silent_p.D22D|DLG2_ENST00000543673.1_Silent_p.D127D|DLG2_ENST00000376104.2_Silent_p.D127D|DLG2_ENST00000532653.1_Silent_p.D22D	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	22						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CATGTGGAGCGTCCTCATCTT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	0,3754		0,0,1877	179	167	171		381,66	-4	0.9	11	dbSNP_134	171	2,8226		0,2,4112	no	coding-synonymous,coding-synonymous	DLG2	NM_001142699.1,NM_001364.3	,	0,2,5989	AA,AG,GG	NA	0.0243,0.0,0.0167	,	127/976,22/871	84245751	2,11980	1877	4114	5991	SO:0001819	synonymous_variant			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672	1740	1740		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	2901	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 58	603583	discs, large homolog 2, chapsyn-110 (Drosophila)		NA	8755482, 9806853	Standard	NM_001364	NM_001142702	NA	Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000398309.2:c.66C>T	11.37:g.84245751G>A		NA	B7WNY8|Q59G57|Q68CQ8|Q6ZTA8	37	CCDS41696.1																																																																																			DLG2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000259243.3		-	ENST00000398309.2	Silent	SNP	11 : 84245751 - 84245751 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	822	154
COA4	51287	broad.mit.edu	37	11	73584383	73584383	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73584383C>T	ENST00000541455.1	-	2	461	c.68G>A	c.(67-69)cGg>cAg	p.R23Q	COA4_ENST00000355693.4_Missense_Mutation_p.R14Q|COA4_ENST00000537289.1_Missense_Mutation_p.R14Q|COA4_ENST00000545127.1_Missense_Mutation_p.R14Q					cytochrome c oxidase assembly factor 4 homolog (S. cerevisiae)	NA											NA						TTTCTTCACCCGTTGGGTCCA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	74	71			NA	NA	11		NA											NA				73584383		2200	4293	6493	SO:0001583	missense			AF242180	CCDS8225.1	11q13.4	2013-10-18	2012-10-15	2012-10-15		ENSG00000181924	51287	51287		Coiled-coil-helix-coiled-coil-helix domain containing, Mitochondrial respiratory chain complex assembly factors	24604	protein-coding gene	gene with protein product		608016	coiled-coil-helix-coiled-coil-helix domain containing 8	CHCHD8	NA	11085516, 20624914	Standard	NM_016565	NM_016565	NA	Approved	E2IG2, CMC3	uc001ouj.3	Q9NYJ1		ENST00000541455.1:c.68G>A	11.37:g.73584383C>T	ENSP00000440756:p.Arg23Gln	NA		37		.	.	.	.	.	.	.	.	.	.	C	0.095	-1.160663	0.01686	.	.	ENSG00000181924	ENST00000355693;ENST00000545127;ENST00000541455;ENST00000537289	.	.	.	6.17	-2.03	0.07365	.	0.455201	0.24927	N	0.034483	T	0.13372	0.0324	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28522	-1.0041	8	0.08599	T	0.76	-0.3931	5.6892	0.17821	0.0:0.2297:0.4126:0.3577	.	14	Q9NYJ1	CHCH8_HUMAN	Q	14;14;23;14	.	ENSP00000347919:R14Q	R	-	2	0	CHCHD8	73262031	0.000000	0.05858	0.006000	0.13384	0.057000	0.15508	-0.336000	0.07863	-0.257000	0.09459	-1.073000	0.02249	CGG	COA4-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000397880.1		-	ENST00000541455.1	Missense_Mutation	SNP	11 : 73584383 - 73584383 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	392	12
CTLA4	1493	broad.mit.edu	37	2	204737463	204737463	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204737463C>A	ENST00000427473.2	+	3	524	c.379C>A	c.(379-381)Cta>Ata	p.L127I	CTLA4_ENST00000472206.1_Missense_Mutation_p.L69I|CTLA4_ENST00000487393.1_3'UTR|CTLA4_ENST00000295854.6_Missense_Mutation_p.L164I|CTLA4_ENST00000302823.3_Silent_p.V200V			P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	0	Ig-like V-type.				B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation	clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm				large_intestine(4)|lung(4)|skin(1)	9					Abatacept(DB01281)	CAACAGGGGTCTATGTGAAAA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	95	95			NA	NA	2		NA											NA				204737463		2203	4300	6503	SO:0001583	missense				CCDS2362.1, CCDS42803.1	2q33	2014-02-03			ENSG00000163599	ENSG00000163599	1493	1493		CD molecules, Immunoglobulin superfamily / V-set domain containing	2505	protein-coding gene	gene with protein product		123890	celiac disease 3, insulin-dependent diabetes mellitus 12	CELIAC3, IDDM12	NA	3220103, 8817351	Standard	NM_005214	NM_005214	NA	Approved	CD152, CD, GSE, CD28, ICOS	uc002vak.2	P16410	OTTHUMG00000132877	ENST00000427473.2:c.379C>A	2.37:g.204737463C>A	ENSP00000409707:p.Leu127Ile	NA	A0N1S0|E9PDH0|Q0PP65|Q52MC1|Q53TD5|Q5S005|Q8WXJ1|Q96P43|Q9UKN9	37		.	.	.	.	.	.	.	.	.	.	C	16.22	3.062914	0.55432	.	.	ENSG00000163599	ENST00000295854;ENST00000472206;ENST00000427473	T;T	0.50277	0.75;1.48	5.72	4.82	0.62117	.	.	.	.	.	T	0.42944	0.1225	.	.	.	0.25026	N	0.991305	P	0.41041	0.736	B	0.38500	0.275	T	0.37384	-0.9708	8	0.87932	D	0	0.2161	13.2854	0.60241	0.1584:0.8416:0.0:0.0	.	69	P16410-4	.	I	164;69;127	ENSP00000295854:L164I;ENSP00000417779:L69I	ENSP00000295854:L164I	L	+	1	2	CTLA4	204445708	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	2.129000	0.42055	1.354000	0.45846	0.561000	0.74099	CTA	CTLA4-002	PUTATIVE	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000336357.2		+	ENST00000427473.2	Missense_Mutation	SNP	2 : 204737463 - 204737463 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	451	39
LTB	4050	broad.mit.edu	37	6	31548600	31548600	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31548600G>A	ENST00000429299.2	-	4	628	c.621C>T	c.(619-621)ttC>ttT	p.F207F	LTB_ENST00000446745.2_3'UTR|LTB_ENST00000483972.1_5'UTR	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN	lymphotoxin beta (TNF superfamily, member 3)	207					cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9					Infliximab(DB00065)|Simvastatin(DB00641)	CCAGGCCGCCGAACCCCACGC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	30	36			NA	NA	6		NA											NA				31548600		1510	2709	4219	SO:0001819	synonymous_variant			L11015	CCDS4703.1, CCDS4704.1	6p21.3	2013-05-22			ENSG00000227507	ENSG00000227507	4050	4050		Tumor necrosis factor (ligand) superfamily	6711	protein-coding gene	gene with protein product		600978		TNFC	NA	7916655, 1714477	Standard		NM_002341	NA	Approved	p33, TNFSF3	uc003nuk.3	Q06643	OTTHUMG00000031136	ENST00000429299.2:c.621C>T	6.37:g.31548600G>A		NA	P78370|Q99761	37	CCDS4703.1																																																																																			LTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076239.3		-	ENST00000429299.2	Silent	SNP	6 : 31548600 - 31548600 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	179	42
ZFAND1	79752	broad.mit.edu	37	8	82615252	82615252	+	Silent	SNP	G	G	A	rs142017081	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82615252G>A	ENST00000220669.5	-	7	606	c.588C>T	c.(586-588)gcC>gcT	p.A196A	ZFAND1_ENST00000522520.1_Silent_p.A89A|ZFAND1_ENST00000517588.1_Silent_p.A89A|ZFAND1_ENST00000521895.1_Silent_p.A89A|ZFAND1_ENST00000519338.1_5'UTR|ZFAND1_ENST00000523096.1_Silent_p.A189A|ZFAND1_ENST00000519523.1_Silent_p.A196A|ZFAND1_ENST00000521287.1_Silent_p.A89A	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	196							zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						CTAGAGAAGCGGCAAAGTCTA	0.348		NA											G	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	2e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	0.0027	SNP								NA				0								G	,,	2,4400		0,2,2199	28	24	25		567,588,588	-8.7	0.2	8	dbSNP_134	25	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ZFAND1	NM_001170796.1,NM_001170797.1,NM_024699.2	,,	0,3,6498	AA,AG,GG	NA	0.0116,0.0454,0.0231	,,	189/262,196/228,196/269	82615252	3,12999	2201	4300	6501	SO:0001819	synonymous_variant				CCDS6232.1, CCDS55250.1, CCDS55251.1	8q21.13	2006-07-07					79752	79752		Zinc fingers, AN1-type domain containing	25858	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024699	NM_024699	NA	Approved	FLJ14007	uc003ycj.2	Q8TCF1		ENST00000220669.5:c.588C>T	8.37:g.82615252G>A		NA	Q658R7|Q6IA32|Q6PGQ6|Q9H810	37	CCDS6232.1																																																																																			ZFAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379739.1		-	ENST00000220669.5	Silent	SNP	8 : 82615252 - 82615252 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	106	22
BRD7	29117	broad.mit.edu	37	16	50402680	50402680	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50402680G>A	ENST00000394688.3	-	1	165	c.6C>T	c.(4-6)ggC>ggT	p.G2G	BRD7_ENST00000401491.3_5'UTR|RP11-21B23.1_ENST00000568427.1_RNA|BRD7_ENST00000394689.2_Silent_p.G2G			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	2					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TGTGCTTCTTGCCCATGTCCG	0.771		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	23	24			NA	NA	16		NA											NA				50402680		2179	4254	6433	SO:0001819	synonymous_variant			AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164	29117	29117			14310	protein-coding gene	gene with protein product			bromodomain-containing 7		NA	10526152, 18809673	Standard	NM_013263	NM_013263	NA	Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.6C>T	16.37:g.50402680G>A		NA	Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	37	CCDS10742.1																																																																																			BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256874.3		-	ENST00000394688.3	Silent	SNP	16 : 50402680 - 50402680 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	333	62
SMG8	55181	broad.mit.edu	37	17	57288100	57288100	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57288100C>A	ENST00000543872.2	+	2	952	c.688C>A	c.(688-690)Ctg>Atg	p.L230M	CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000578922.1_Missense_Mutation_p.L230M|SMG8_ENST00000300917.5_Missense_Mutation_p.L230M|SMG8_ENST00000580498.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	230					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						ATTCAGAGCCCTGGATGGGCT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	72	73			NA	NA	17		NA											NA				57288100		2203	4300	6503	SO:0001583	missense			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21			55181	55181			25551	protein-coding gene	gene with protein product		613175	chromosome 17 open reading frame 71, smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)	C17orf71	NA	19417104	Standard	NM_018149	NM_018149	NA	Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.688C>A	17.37:g.57288100C>A	ENSP00000438748:p.Leu230Met	NA	Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	37	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.153688	0.38021	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.54279	0.58;0.58	5.99	0.667	0.17907	.	0.063140	0.64402	D	0.000004	T	0.41696	0.1170	L	0.54323	1.7	0.43698	D	0.996156	P	0.48230	0.907	B	0.39503	0.301	T	0.21586	-1.0241	10	0.38643	T	0.18	-8.4489	9.2582	0.37597	0.0:0.5902:0.0:0.4098	.	230	Q8ND04	SMG8_HUMAN	M	230	ENSP00000300917:L230M;ENSP00000438748:L230M	ENSP00000300917:L230M	L	+	1	2	SMG8	54642882	0.976000	0.34144	0.980000	0.43619	0.942000	0.58702	1.335000	0.33839	-0.052000	0.13311	-0.150000	0.13652	CTG	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445960.2		+	ENST00000543872.2	Missense_Mutation	SNP	17 : 57288100 - 57288100 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	339	24
DRD1	1812	broad.mit.edu	37	5	174869930	174869930	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174869930A>G	ENST00000393752.2	-	2	1165	c.173T>C	c.(172-174)gTg>gCg	p.V58A		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	58					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	GAAGTTGGTCACCTTGGACCG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	80	86			NA	NA	5		NA											NA				174869930		2203	4300	6503	SO:0001583	missense			X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845	1812	1812		GPCR / Class A : Dopamine receptors	3020	protein-coding gene	gene with protein product		126449			NA		Standard	NM_000794	NM_000794	NA	Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.173T>C	5.37:g.174869930A>G	ENSP00000377353:p.Val58Ala	NA	B2RA44|Q4QRJ0	37	CCDS4393.1	.	.	.	.	.	.	.	.	.	.	A	18.67	3.673422	0.67928	.	.	ENSG00000184845	ENST00000393752;ENST00000329144	T	0.37584	1.19	5.66	5.66	0.87406	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.61400	0.2344	M	0.79343	2.45	0.80722	D	1	D	0.65815	0.995	D	0.70487	0.969	T	0.66015	-0.6028	10	0.87932	D	0	.	15.3831	0.74676	1.0:0.0:0.0:0.0	.	58	P21728	DRD1_HUMAN	A	58	ENSP00000377353:V58A	ENSP00000327652:V58A	V	-	2	0	DRD1	174802536	1.000000	0.71417	1.000000	0.80357	0.576000	0.36127	9.157000	0.94714	2.285000	0.76669	0.533000	0.62120	GTG	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252982.2		-	ENST00000393752.2	Missense_Mutation	SNP	5 : 174869930 - 174869930 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	95
GRID1	2894	broad.mit.edu	37	10	87482893	87482893	+	Missense_Mutation	SNP	C	C	T	rs148165863		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:87482893C>T	ENST00000327946.7	-	12	1949	c.1864G>A	c.(1864-1866)Gaa>Aaa	p.E622K	GRID1_ENST00000536331.1_Missense_Mutation_p.E193K	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	622						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	ACGGAAGATTCGCCACCTGCG	0.602		NA								Multiple Myeloma(13;0.14)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	101	74	83		1864	5.8	0.1	10	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	missense	GRID1	NM_017551.2	56	0,2,6501	TT,TC,CC	NA	0.0116,0.0227,0.0154	possibly-damaging	622/1010	87482893	2,13004	2203	4300	6503	SO:0001583	missense			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771	2894	2894		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4575	protein-coding gene	gene with protein product		610659			NA		Standard	XM_043613	NM_017551	NA	Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1864G>A	10.37:g.87482893C>T	ENSP00000330148:p.Glu622Lys	NA	B3KXD5|Q8IXT3	37	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	37	6.036777	0.97226	2.27E-4	1.16E-4	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.54071	0.59;0.59	5.83	5.83	0.93111	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.358222	0.33959	N	0.004383	T	0.57036	0.2026	M	0.83774	2.66	0.80722	D	1	P	0.39847	0.691	B	0.31390	0.129	T	0.66516	-0.5904	10	0.72032	D	0.01	.	19.0942	0.93242	0.0:1.0:0.0:0.0	.	622	Q9ULK0	GRID1_HUMAN	K	622;193	ENSP00000330148:E622K;ENSP00000444455:E193K	ENSP00000330148:E622K	E	-	1	0	GRID1	87472873	1.000000	0.71417	0.118000	0.21660	0.398000	0.30690	7.743000	0.85020	2.762000	0.94881	0.561000	0.74099	GAA	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049148.3		-	ENST00000327946.7	Missense_Mutation	SNP	10 : 87482893 - 87482893 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	214	34
DNAH17	8632	broad.mit.edu	37	17	76458993	76458993	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76458993G>A	ENST00000585328.1	-	57	9216	c.9092C>T	c.(9091-9093)aCg>aTg	p.T3031M	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.T3022M	NM_173628.3	NP_775899.3			dynein, axonemal, heavy chain 17	NA										NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AACAAGTTCCGTTCTCTTCTT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	135	139			NA	NA	17		NA											NA				76458993		2203	4300	6503	SO:0001583	missense			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775	8632	8632		Axonemal dyneins	2946	protein-coding gene	gene with protein product		610063	dynein, axonemal, heavy polypeptide 17, dynein, axonemal, heavy chain like 1, dynein, axonemal, heavy like 1	DNAHL1	NA	9545504	Standard	NM_173628	NM_173628	NA	Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.9092C>T	17.37:g.76458993G>A	ENSP00000465516:p.Thr3031Met	NA		37		.	.	.	.	.	.	.	.	.	.	G	3.792	-0.043442	0.07452	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.39997	1.05	5.04	-3.41	0.04839	.	0.538280	0.17352	N	0.177358	T	0.27169	0.0666	L	0.52266	1.64	0.19300	N	0.999972	B	0.16396	0.017	B	0.14578	0.011	T	0.13388	-1.0511	10	0.44086	T	0.13	.	2.5082	0.04650	0.3344:0.252:0.3156:0.0981	.	3031	E7EUM8	.	M	3031;3022	ENSP00000374490:T3022M	ENSP00000300671:T3031M	T	-	2	0	DNAH17	73970588	0.000000	0.05858	0.315000	0.25238	0.055000	0.15305	-1.529000	0.02223	-0.638000	0.05509	-1.281000	0.01382	ACG	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000318962.2		-	ENST00000585328.1	Missense_Mutation	SNP	17 : 76458993 - 76458993 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	328	59
ZNF282	8427	broad.mit.edu	37	7	148921240	148921240	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148921240G>A	ENST00000262085.3	+	8	1622	c.1517G>A	c.(1516-1518)cGg>cAg	p.R506Q	ZNF282_ENST00000479907.1_Intron	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	506					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		GGGCTGCGGCGGAGCCTCCTC	0.781		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													5	5	5			NA	NA	7		NA											NA				148921240		2087	4123	6210	SO:0001583	missense			D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265	8427	8427		Zinc fingers, C2H2-type, -	13076	protein-coding gene	gene with protein product		603397			NA	9396811	Standard	NM_003575	NM_003575	NA	Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.1517G>A	7.37:g.148921240G>A	ENSP00000262085:p.Arg506Gln	NA	O43691|Q6DKK0	37	CCDS5895.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.894851	0.52121	.	.	ENSG00000170265	ENST00000262085	T	0.06768	3.26	3.82	2.01	0.26516	.	0.185108	0.26439	N	0.024368	T	0.05777	0.0151	L	0.32530	0.975	0.40470	D	0.980339	B	0.14438	0.01	B	0.04013	0.001	T	0.37291	-0.9712	10	0.29301	T	0.29	-21.4411	5.9703	0.19349	0.2448:0.0:0.7552:0.0	.	506	Q9UDV7	ZN282_HUMAN	Q	506	ENSP00000262085:R506Q	ENSP00000262085:R506Q	R	+	2	0	ZNF282	148552173	0.000000	0.05858	0.059000	0.19551	0.327000	0.28475	0.042000	0.13949	0.303000	0.22785	0.561000	0.74099	CGG	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352746.1		+	ENST00000262085.3	Missense_Mutation	SNP	7 : 148921240 - 148921240 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	79	24
FLG2	388698	broad.mit.edu	37	1	152329582	152329582	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152329582G>T	ENST00000388718.5	-	3	752	c.680C>A	c.(679-681)tCt>tAt	p.S227Y	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	227	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTTGATCCAGATCCAGATTC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													212	217	215			NA	NA	1		NA											NA				152329582		2203	4300	6503	SO:0001583	missense			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520	388698	388698		EF-hand domain containing	33276	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_001014342	NM_001014342	NA	Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.680C>A	1.37:g.152329582G>T	ENSP00000373370:p.Ser227Tyr	NA	Q9H4U1	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	0.230	-1.021952	0.02061	.	.	ENSG00000143520	ENST00000388718	T	0.00695	5.83	5.19	1.15	0.20763	.	.	.	.	.	T	0.00241	0.0007	L	0.27053	0.805	0.09310	N	1	B	0.20550	0.046	B	0.17098	0.017	T	0.40496	-0.9560	9	0.44086	T	0.13	-0.1609	3.5397	0.07807	0.0825:0.146:0.4701:0.3015	.	227	Q5D862	FILA2_HUMAN	Y	227	ENSP00000373370:S227Y	ENSP00000373370:S227Y	S	-	2	0	FLG2	150596206	0.048000	0.20356	0.008000	0.14137	0.129000	0.20672	0.751000	0.26348	0.054000	0.16065	-0.156000	0.13503	TCT	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034018.5		-	ENST00000388718.5	Missense_Mutation	SNP	1 : 152329582 - 152329582 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1494	134
NR4A2	4929	broad.mit.edu	37	2	157186485	157186485	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:157186485C>T	ENST00000339562.4	-	3	576	c.214G>A	c.(214-216)Gac>Aac	p.D72N	NR4A2_ENST00000539077.1_Missense_Mutation_p.D83N|NR4A2_ENST00000426264.1_Missense_Mutation_p.D9N|NR4A2_ENST00000429376.1_Missense_Mutation_p.D9N|NR4A2_ENST00000409108.2_Missense_Mutation_p.D72N|NR4A2_ENST00000409572.1_Missense_Mutation_p.D72N	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	72					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GGCTTGACGTCGTAGCCTGTG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	144	151			NA	NA	2		NA											NA				157186485		2203	4300	6503	SO:0001583	missense			X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234	NA	4929		Nuclear hormone receptors	7981	protein-coding gene	gene with protein product		601828		NURR1	NA	7706727	Standard		NM_006186	NA	Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.214G>A	2.37:g.157186485C>T	ENSP00000344479:p.Asp72Asn	NA	Q16311|Q53RZ2	37	CCDS2201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.257573|4.257573	0.80246|0.80246	.|.	.|.	ENSG00000153234|ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077;ENST00000409108;ENST00000429376;ENST00000424077;ENST00000421709|ENST00000406048	D;D;D;D;D;D;D;D|.	0.93076|.	-2.93;-2.96;-2.93;-2.94;-3.16;-3.11;-1.58;-2.39|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|.	.|.	.|.	.|.	T|T	0.71702|0.71702	0.3371|0.3371	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.65140|.	0.932|.	T|T	0.67248|0.67248	-0.5718|-0.5718	9|5	0.46703|.	T|.	0.11|.	.|.	19.4006|19.4006	0.94627|0.94627	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	72|.	P43354|.	NR4A2_HUMAN|.	N|Q	72;9;72;83;72;9;72;9|50	ENSP00000344479:D72N;ENSP00000389986:D9N;ENSP00000386747:D72N;ENSP00000444925:D83N;ENSP00000386993:D72N;ENSP00000410952:D9N;ENSP00000406808:D72N;ENSP00000388120:D9N|.	ENSP00000344479:D72N|.	D|R	-|-	1|2	0|0	NR4A2|NR4A2	156894731|156894731	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.651000|7.651000	0.83577|0.83577	2.820000|2.820000	0.97059|0.97059	0.650000|0.650000	0.86243|0.86243	GAC|CGA	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254909.2		-	ENST00000339562.4	Missense_Mutation	SNP	2 : 157186485 - 157186485 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	518	14
UBE4A	9354	broad.mit.edu	37	11	118247314	118247314	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118247314C>A	ENST00000252108.3	+	10	1607	c.1476C>A	c.(1474-1476)atC>atA	p.I492I	UBE4A_ENST00000431736.2_Silent_p.I499I	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	492					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CCTGTTTGATCCCAGCTGTGC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	119	118			NA	NA	11		NA											NA				118247314		2200	4296	6496	SO:0001819	synonymous_variant			D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19				9354	9354		U-box domain containing	12499	protein-coding gene	gene with protein product		603753	ubiquitination factor E4A (homologous to yeast UFD2), ubiquitination factor E4A (UFD2 homolog, yeast)		NA	10089879	Standard	NM_004788	NM_004788	NA	Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000252108.3:c.1476C>A	11.37:g.118247314C>A		NA	B0YJB6|Q2M1H0|Q6P5T4|Q7Z639	37	CCDS55790.1																																																																																			UBE4A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398142.1		+	ENST00000252108.3	Silent	SNP	11 : 118247314 - 118247314 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	593	110
BTAF1	9044	broad.mit.edu	37	10	93768637	93768637	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93768637C>T	ENST00000265990.6	+	27	4173	c.3865C>T	c.(3865-3867)Ctg>Ttg	p.L1289L	BTAF1_ENST00000544642.1_Silent_p.L117L	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1289	Helicase ATP-binding.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TCATGGAATTCTGTGTGATGA	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	83	82			NA	NA	10		NA											NA				93768637		2202	4299	6501	SO:0001819	synonymous_variant			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564	9044	9044			17307	protein-coding gene	gene with protein product	Mot1 homolog (S. cerevisiae)	605191	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)		NA	9342322, 9488487	Standard	NM_003972	NM_003972	NA	Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.3865C>T	10.37:g.93768637C>T		NA	O43578	37	CCDS7419.1																																																																																			BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049380.4		+	ENST00000265990.6	Silent	SNP	10 : 93768637 - 93768637 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	63
PFKFB4	5210	broad.mit.edu	37	3	48587583	48587583	+	Missense_Mutation	SNP	C	C	T	rs147977517		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48587583C>T	ENST00000416568.1	-	2	294	c.182G>A	c.(181-183)cGa>cAa	p.R61Q	PFKFB4_ENST00000545984.1_Missense_Mutation_p.R61Q|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000536104.1_Missense_Mutation_p.R50Q|PFKFB4_ENST00000541519.1_Missense_Mutation_p.R27Q|PFKFB4_ENST00000232375.3_Missense_Mutation_p.R61Q|PFKFB4_ENST00000383734.2_Missense_Mutation_p.R61Q			Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	61	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GTTCAGGTATCGAGTCAGCTT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	113	123			NA	NA	3		NA											NA				48587583		2203	4300	6503	SO:0001583	missense			BC010269	CCDS2771.1	3p22-p21	2004-03-02			ENSG00000114268	ENSG00000114268	5210	5210			8875	protein-coding gene	gene with protein product		605320			NA	8830046, 10095107	Standard	NM_004567	NM_004567	NA	Approved		uc003ctv.3	Q16877	OTTHUMG00000133528	ENST00000416568.1:c.182G>A	3.37:g.48587583C>T	ENSP00000388394:p.Arg61Gln	NA	Q5S3G5	37		.	.	.	.	.	.	.	.	.	.	C	35	5.561027	0.96527	.	.	ENSG00000114268	ENST00000232375;ENST00000536104;ENST00000416568;ENST00000383734;ENST00000541519;ENST00000545984;ENST00000452531;ENST00000412035;ENST00000422701	.	.	.	4.89	4.89	0.63831	6-phosphofructo-2-kinase (1);	0.000000	0.85682	D	0.000000	D	0.86003	0.5829	M	0.93808	3.46	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.85130	0.993;0.994;0.997;0.966	D	0.89580	0.3820	9	0.87932	D	0	-5.0995	15.5865	0.76489	0.0:1.0:0.0:0.0	.	50;61;61;61	B7Z5C3;Q5XLC2;Q66S35;Q16877	.;.;.;F264_HUMAN	Q	61;50;61;61;27;61;50;27;64	.	ENSP00000232375:R61Q	R	-	2	0	PFKFB4	48562587	1.000000	0.71417	0.989000	0.46669	0.986000	0.74619	5.737000	0.68606	2.532000	0.85374	0.655000	0.94253	CGA	PFKFB4-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000344754.1		-	ENST00000416568.1	Missense_Mutation	SNP	3 : 48587583 - 48587583 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	305	55
MYH11	4629	broad.mit.edu	37	16	15826526	15826526	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15826526G>T	ENST00000452625.2	-	28	3654	c.3567C>A	c.(3565-3567)gcC>gcA	p.A1189A	AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000576790.2_Silent_p.A1182A|MYH11_ENST00000396324.3_Silent_p.A1189A|MYH11_ENST00000300036.5_Silent_p.A1182A	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1182					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CTTCATCCAGGGCCTTCTTCA	0.597		NA	T	CBFB	AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		16	16p13.13-p13.12	4629	myosin, heavy polypeptide 11, smooth muscle		L	0													181	131	148			NA	NA	16		NA											NA				15826526		2197	4300	6497	SO:0001819	synonymous_variant			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392	4629	4629		Myosins / Myosin superfamily : Class II	7569	protein-coding gene	gene with protein product		160745	myosin, heavy polypeptide 11, smooth muscle		NA	7684189	Standard	NM_001040113	NM_001040113	NA	Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000452625.2:c.3567C>A	16.37:g.15826526G>T		NA	O00396|O94944|P78422	37	CCDS45424.1																																																																																			MYH11-013	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000436647.2		-	ENST00000452625.2	Silent	SNP	16 : 15826526 - 15826526 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	553	117
RPAP2	79871	broad.mit.edu	37	1	92789302	92789302	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92789302C>T	ENST00000610020.1	+	8	934	c.825C>T	c.(823-825)ggC>ggT	p.G275G	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	NA						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AGCAGTTAGGCGATTGCAAAT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	115	116			NA	NA	1		NA											NA				92789302		2203	4300	6503	SO:0001819	synonymous_variant			AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484	79871	79871			25791	protein-coding gene	gene with protein product		611476	chromosome 1 open reading frame 82	C1orf82	NA	17643375	Standard	NM_024813	NM_024813	NA	Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.825C>T	1.37:g.92789302C>T		NA	Q49AS7|Q9H8Y2	37	CCDS740.1																																																																																			RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000028368.2		+	ENST00000610020.1	Silent	SNP	1 : 92789302 - 92789302 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	467	44
SPEN	23013	broad.mit.edu	37	1	16255163	16255163	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16255163C>T	ENST00000375759.3	+	11	2632	c.2428C>T	c.(2428-2430)Cgg>Tgg	p.R810W		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	810	Arg-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ACGCTTAATACGGAAGGAAAA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	85	84			NA	NA	1		NA											NA				16255163		2203	4300	6503	SO:0001583	missense				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526	23013	23013		RNA binding motif (RRM) containing	17575	protein-coding gene	gene with protein product		613484	SPEN homolog, transcriptional regulator (Drosophila), spen homolog, transcriptional regulator (Drosophila)		NA	10451362, 11331609	Standard	NM_015001	NM_015001	NA	Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.2428C>T	1.37:g.16255163C>T	ENSP00000364912:p.Arg810Trp	NA	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.428832	0.43122	.	.	ENSG00000065526	ENST00000375759	T	0.12672	2.66	4.89	2.76	0.32466	.	.	.	.	.	T	0.11495	0.0280	L	0.56769	1.78	0.52099	D	0.999943	P	0.48694	0.914	B	0.35182	0.197	T	0.05920	-1.0856	9	0.87932	D	0	-8.5576	7.0484	0.25059	0.4093:0.4772:0.0:0.1135	.	810	Q96T58	MINT_HUMAN	W	810	ENSP00000364912:R810W	ENSP00000364912:R810W	R	+	1	2	SPEN	16127750	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.142000	0.50601	0.481000	0.27557	0.563000	0.77884	CGG	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025993.1		+	ENST00000375759.3	Missense_Mutation	SNP	1 : 16255163 - 16255163 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	464	45
CCNE2	9134	broad.mit.edu	37	8	95900214	95900214	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95900214T>G	ENST00000520509.1	-	7	793	c.541A>C	c.(541-543)Aat>Cat	p.N181H	CCNE2_ENST00000523476.1_5'UTR|CCNE2_ENST00000308108.4_Missense_Mutation_p.N181H|CCNE2_ENST00000396133.3_Missense_Mutation_p.N181H			O96020	CCNE2_HUMAN	cyclin E2	181					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					ATATTTTTATTTATATCCTTT	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	66	65			NA	NA	8		NA											NA				95900214		2196	4271	6467	SO:0001583	missense			AF091433	CCDS6264.1	8q22.1	2005-10-18			ENSG00000175305	ENSG00000175305	9134	9134			1590	protein-coding gene	gene with protein product		603775			NA	9840927, 9840943	Standard	NM_057749, NM_004702	NM_057749	NA	Approved	CYCE2	uc003yhc.3	O96020	OTTHUMG00000164696	ENST00000520509.1:c.541A>C	8.37:g.95900214T>G	ENSP00000429089:p.Asn181His	NA	O95439	37	CCDS6264.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.828|8.828	0.939186|0.939186	0.18281|0.18281	.|.	.|.	ENSG00000175305|ENSG00000175305	ENST00000520509;ENST00000308108;ENST00000542725;ENST00000396133|ENST00000524224	T;T;T|.	0.11604|.	2.76;2.76;2.76|.	5.63|5.63	5.63|5.63	0.86233|0.86233	Cyclin, N-terminal (1);Cyclin-like (3);|.	0.246397|.	0.50627|.	D|.	0.000115|.	T|.	0.55955|.	0.1953|.	L|L	0.28649|0.28649	0.875|0.875	0.46874|0.46874	D|D	0.999233|0.999233	B;D|.	0.67145|.	0.029;0.996|.	B;P|.	0.62014|.	0.065;0.897|.	T|.	0.52578|.	-0.8557|.	10|.	0.40728|.	T|.	0.16|.	.|.	15.8419|15.8419	0.78852|0.78852	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	181;181|.	Q8WUE3;O96020|.	.;CCNE2_HUMAN|.	H|Y	181;181;73;181|44	ENSP00000429089:N181H;ENSP00000309181:N181H;ENSP00000379437:N181H|.	ENSP00000309181:N181H|.	N|X	-|-	1|3	0|2	CCNE2|CCNE2	95969390|95969390	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.056000|2.056000	0.41355|0.41355	2.137000|2.137000	0.66172|0.66172	0.533000|0.533000	0.62120|0.62120	AAT|TAA	CCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379808.1		-	ENST00000520509.1	Missense_Mutation	SNP	8 : 95900214 - 95900214 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	249	53
SLC36A1	206358	broad.mit.edu	37	5	150853243	150853243	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150853243G>T	ENST00000243389.3	+	8	956	c.733G>T	c.(733-735)Gac>Tac	p.D245Y	SLC36A1_ENST00000520701.1_Missense_Mutation_p.D245Y|SLC36A1_ENST00000521925.1_Missense_Mutation_p.D245Y	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	245					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	GAGGATCCCAGACCCCAGCCA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(151;1534 1860 12947 32979 37872)							NA				0													180	196	191			NA	NA	5		NA											NA				150853243		2203	4300	6503	SO:0001583	missense			AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643	206358	206358		Solute carriers	18761	protein-coding gene	gene with protein product		606561			NA	11959859, 11390972	Standard	NM_078483	NM_078483	NA	Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.733G>T	5.37:g.150853243G>T	ENSP00000243389:p.Asp245Tyr	NA	Q7Z7C0|Q96M74	37	CCDS4316.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566284	0.27915	.	.	ENSG00000123643	ENST00000520701;ENST00000243389;ENST00000456739;ENST00000521925;ENST00000517628	T;T;T;T	0.32515	4.41;4.41;4.41;1.45	5.34	-0.673	0.11373	.	0.550392	0.19839	N	0.104888	T	0.29223	0.0727	M	0.64676	1.99	0.40614	D	0.9817	B;B	0.21606	0.025;0.058	B;B	0.29353	0.075;0.101	T	0.08472	-1.0720	10	0.39692	T	0.17	.	9.5424	0.39260	0.4302:0.0:0.5698:0.0	.	245;245	E7EW39;Q7Z2H8	.;S36A1_HUMAN	Y	245;245;245;245;4	ENSP00000428140:D245Y;ENSP00000243389:D245Y;ENSP00000430305:D245Y;ENSP00000428738:D4Y	ENSP00000243389:D245Y	D	+	1	0	SLC36A1	150833436	0.111000	0.22076	0.872000	0.34217	0.956000	0.61745	0.393000	0.20817	-0.333000	0.08476	0.655000	0.94253	GAC	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252433.1		+	ENST00000243389.3	Missense_Mutation	SNP	5 : 150853243 - 150853243 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1323	243
NOX1	27035	broad.mit.edu	37	X	100104325	100104325	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100104325C>A	ENST00000372966.3	-	11	1592	c.1387G>T	c.(1387-1389)Ggc>Tgc	p.G463C	NOX1_ENST00000217885.5_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.G426C|NOX1_ENST00000372964.1_Intron	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	463	Interaction with NOXO1.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						CCCACTTTGCCTAATTCCTCC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	74	87			NA	NA	X		NA											NA				100104325		2203	4300	6503	SO:0001583	missense			AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952	27035	27035			7889	protein-coding gene	gene with protein product	mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating), NADPH oxidase homolog-1, NADPH oxidase 1 variant NOH-1L	300225			NA	10485709, 10615049	Standard	NM_007052	NM_007052	NA	Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.1387G>T	X.37:g.100104325C>A	ENSP00000362057:p.Gly463Cys	NA	A8K836|O95691|Q2PP02	37	CCDS14474.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.78|17.78	3.474228|3.474228	0.63737|0.63737	.|.	.|.	ENSG00000007952|ENSG00000007952	ENST00000372966;ENST00000372960;ENST00000372957|ENST00000427768	D;D|.	0.96232|.	-3.87;-3.95|.	4.05|4.05	4.05|4.05	0.47172|0.47172	Ferric reductase, NAD binding (1);|.	0.252743|.	0.38492|.	N|.	0.001673|.	T|T	0.76898|0.76898	0.4052|0.4052	M|M	0.83774|0.83774	2.66|2.66	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.998|.	T|T	0.80103|0.80103	-0.1522|-0.1522	10|5	0.38643|.	T|.	0.18|.	-8.1455|-8.1455	14.5632|14.5632	0.68156|0.68156	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	426;463|.	A6NGA6;Q9Y5S8|.	.;NOX1_HUMAN|.	C|M	463;426;152|147	ENSP00000362057:G463C;ENSP00000362051:G426C|.	ENSP00000362048:G152C|.	G|R	-|-	1|2	0|0	NOX1|NOX1	99990981|99990981	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.931000|0.931000	0.56810|0.56810	3.965000|3.965000	0.56788|0.56788	1.866000|1.866000	0.54105|0.54105	0.544000|0.544000	0.68410|0.68410	GGC|AGG	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057495.1		-	ENST00000372966.3	Missense_Mutation	SNP	X : 100104325 - 100104325 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	161	56
AGBL1	123624	broad.mit.edu	37	15	86800203	86800203	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86800203G>A	ENST00000441037.2	+	7	812	c.717G>A	c.(715-717)ccG>ccA	p.P239P	AGBL1_ENST00000421325.2_Silent_p.P239P	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	239					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATGCCTTCCCGGTCCCCGGGT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	75	75			NA	NA	15		NA											NA				86800203		2039	4197	6236	SO:0001819	synonymous_variant			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748	123624	123624			26504	protein-coding gene	gene with protein product	cytosolic carboxypeptidase 4	615496			NA	21074048, 24094747	Standard	NM_152336	NM_152336	NA	Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.717G>A	15.37:g.86800203G>A		NA	A1A4X5|A6NJH6|C9JHL5	37	CCDS58398.1																																																																																			AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000314929.5		+	ENST00000441037.2	Silent	SNP	15 : 86800203 - 86800203 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	181	30
RAD21	5885	broad.mit.edu	37	8	117878848	117878848	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:117878848C>T	ENST00000297338.2	-	2	408	c.121G>A	c.(121-123)Gtg>Atg	p.V41M	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	41					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					ATACTCTCCACGCTGCTCTCT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	74	76			NA	NA	8		NA											NA				117878848		2203	4300	6503	SO:0001583	missense			BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754	5885	5885			9811	protein-coding gene	gene with protein product	sister chromatid cohesion 1	606462	RAD21 (S. pombe) homolog		NA	8812457	Standard	NM_006265	NM_006265	NA	Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.121G>A	8.37:g.117878848C>T	ENSP00000297338:p.Val41Met	NA	A8K0E0|Q15001|Q99568	37	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576225	0.86645	.	.	ENSG00000164754	ENST00000297338;ENST00000520992;ENST00000517485;ENST00000519837;ENST00000522699	T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11	5.83	4.96	0.65561	Rad21/Rec8-like protein, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72906	0.3519	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81111	-0.1081	10	0.72032	D	0.01	-6.9429	14.7782	0.69746	0.0:0.9308:0.0:0.0692	.	41	O60216	RAD21_HUMAN	M	41	ENSP00000297338:V41M;ENSP00000429342:V41M;ENSP00000427923:V41M;ENSP00000430524:V41M;ENSP00000428158:V41M	ENSP00000297338:V41M	V	-	1	0	RAD21	117948029	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	1.469000	0.48083	0.563000	0.77884	GTG	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381184.1		-	ENST00000297338.2	Missense_Mutation	SNP	8 : 117878848 - 117878848 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	372	50
CACNA1E	777	broad.mit.edu	37	1	181701981	181701981	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181701981G>A	ENST00000526775.1	+	19	2867	c.2702G>A	c.(2701-2703)cGc>cAc	p.R901H	CACNA1E_ENST00000367573.2_Missense_Mutation_p.R920H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R852H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R527H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R920H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R901H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R871H	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	920					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGCCAACGGCGCAGCCGGCAT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG,HIS/ARG,HIS/ARG	0,4252		0,0,2126	51	60	57		2702,2759,2759	4.1	1	1		57	1,8493		0,1,4246	no	missense,missense,missense	CACNA1E	NM_001205294.1,NM_001205293.1,NM_000721.3	29,29,29	0,1,6372	AA,AG,GG	NA	0.0118,0.0,0.0078	benign,benign,benign	901/2252,920/2314,920/2271	181701981	1,12745	2126	4247	6373	SO:0001583	missense			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216	777	777		Calcium channel subunits, Voltage-gated ion channels / Calcium channels, EF-hand domain containing	1392	protein-coding gene	gene with protein product		601013		CACNL1A6	NA	8388125, 16382099	Standard	NM_000721	NM_001205293	NA	Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000526775.1:c.2702G>A	1.37:g.181701981G>A	ENSP00000434814:p.Arg901His	NA	B1AM12|B1AM13|B1AM14|Q14580|Q14581	37	CCDS55665.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705010	0.68615	0.0	1.18E-4	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96168	-3.88;-3.88;-3.88;-3.88;-3.93;-3.89;-3.88	4.13	4.13	0.48395	.	0.942416	0.08881	N	0.880021	D	0.90215	0.6941	N	0.08118	0	0.53005	D	0.999964	B;B;B	0.21688	0.059;0.035;0.059	B;B;B	0.13407	0.008;0.009;0.008	T	0.79567	-0.1750	10	0.36615	T	0.2	.	17.3004	0.87181	0.0:0.0:1.0:0.0	.	901;920;920	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	H	920;901;871;852;527;901;920	ENSP00000356542:R920H;ENSP00000434814:R901H;ENSP00000350183:R871H;ENSP00000351101:R852H;ENSP00000356539:R527H;ENSP00000353222:R901H;ENSP00000356545:R920H	ENSP00000350183:R871H	R	+	2	0	CACNA1E	179968604	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.941000	0.63540	2.592000	0.87571	0.555000	0.69702	CGC	CACNA1E-002	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090792.2		+	ENST00000526775.1	Missense_Mutation	SNP	1 : 181701981 - 181701981 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	704	107
SCN2A	6326	broad.mit.edu	37	2	166231448	166231448	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166231448G>T	ENST00000375437.2	+	22	4516	c.4226G>T	c.(4225-4227)gGa>gTa	p.G1409V	SCN2A_ENST00000283256.6_Missense_Mutation_p.G1409V|SCN2A_ENST00000375427.2_Missense_Mutation_p.G1409V|SCN2A_ENST00000357398.3_Missense_Mutation_p.G1409V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1409					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GATAACGTAGGACTTGGATAT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	51	51			NA	NA	2		NA											NA				166231448		2203	4299	6502	SO:0001583	missense			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531	6326	6326		Sodium channels, Voltage-gated ion channels / Sodium channels	10588	protein-coding gene	gene with protein product		182390	sodium channel, voltage-gated, type II, alpha 2 polypeptide, sodium channel, voltage-gated, type II, alpha 1 polypeptide	SCN2A1, SCN2A2	NA	1317301, 16382098	Standard	NM_021007	XM_005246753	NA	Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4226G>T	2.37:g.166231448G>T	ENSP00000364586:p.Gly1409Val	NA	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.091442	0.55968	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.97455	-4.39;-4.39;-4.39;-4.39	4.67	4.67	0.58626	Ion transport (1);	0.069003	0.56097	D	0.000037	D	0.98902	0.9628	H	0.95645	3.7	0.80722	D	1	D;P	0.60160	0.987;0.945	D;D	0.68765	0.96;0.933	D	0.99675	1.0997	10	0.87932	D	0	.	17.9467	0.89040	0.0:0.0:1.0:0.0	.	1409;1409	Q99250-2;Q99250	.;SCN2A_HUMAN	V	1409	ENSP00000364586:G1409V;ENSP00000349973:G1409V;ENSP00000283256:G1409V;ENSP00000364576:G1409V	ENSP00000283256:G1409V	G	+	2	0	SCN2A	165939694	1.000000	0.71417	1.000000	0.80357	0.125000	0.20455	7.885000	0.87282	2.291000	0.77112	0.655000	0.94253	GGA	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000102659.2		+	ENST00000375437.2	Missense_Mutation	SNP	2 : 166231448 - 166231448 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	259	51
TPRG1	285386	broad.mit.edu	37	3	189028272	189028272	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:189028272A>G	ENST00000345063.3	+	5	744	c.577A>G	c.(577-579)Act>Gct	p.T193A	TPRG1_ENST00000433971.1_Missense_Mutation_p.T193A	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	193										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		TCCTTATGCTACTTTCACTGA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	94	96			NA	NA	3		NA											NA				189028272		2203	4300	6503	SO:0001583	missense			AK125682	CCDS3292.1	3q28	2008-02-04	2008-01-16	2008-01-16	ENSG00000188001	ENSG00000188001	285386	285386			24759	protein-coding gene	gene with protein product			family with sequence similarity 79, member B	FAM79B	NA		Standard	NM_198485	NM_198485	NA	Approved	FLJ41238, FLJ43694	uc003frw.2	Q6ZUI0	OTTHUMG00000156321	ENST00000345063.3:c.577A>G	3.37:g.189028272A>G	ENSP00000341031:p.Thr193Ala	NA		37	CCDS3292.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.9|24.9	4.579318|4.579318	0.86645|0.86645	.|.	.|.	ENSG00000188001|ENSG00000188001	ENST00000433971;ENST00000345063|ENST00000425670	.|.	.|.	.|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75715|0.75715	0.3887|0.3887	M|M	0.77486|0.77486	2.375|2.375	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.76494|.	0.999|.	D|.	0.78314|.	0.991|.	T|T	0.76658|0.76658	-0.2878|-0.2878	9|5	0.72032|.	D|.	0.01|.	-19.4379|-19.4379	15.0311|15.0311	0.71708|0.71708	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	193|.	Q6ZUI0|.	TPRG1_HUMAN|.	A|C	193|120	.|.	ENSP00000341031:T193A|.	T|Y	+|+	1|2	0|0	TPRG1|TPRG1	190510966|190510966	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.976000|0.976000	0.68499|0.68499	6.849000|6.849000	0.75414|0.75414	2.240000|2.240000	0.73641|0.73641	0.477000|0.477000	0.44152|0.44152	ACT|TAC	TPRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343931.1		+	ENST00000345063.3	Missense_Mutation	SNP	3 : 189028272 - 189028272 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	422	81
ANKRD11	29123	broad.mit.edu	37	16	89347194	89347194	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89347194G>A	ENST00000301030.4	-	9	6216	c.5756C>T	c.(5755-5757)gCg>gTg	p.A1919V	ANKRD11_ENST00000378330.2_Missense_Mutation_p.A1919V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1919	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGCGGCCGTCGCCTGCTGGTC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	24	22			NA	NA	16		NA											NA				89347194		2159	4237	6396	SO:0001583	missense			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522	29123	29123		Ankyrin repeat domain containing	21316	protein-coding gene	gene with protein product		611192			NA	11483580	Standard	NM_013275	NM_001256182	NA	Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.5756C>T	16.37:g.89347194G>A	ENSP00000301030:p.Ala1919Val	NA	Q6NTG1|Q6QMF8	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	g	19.57	3.851632	0.71719	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.43688	0.94;0.94	4.98	4.98	0.66077	.	0.105490	0.37715	N	0.001964	T	0.48466	0.1501	L	0.34521	1.04	0.80722	D	1	D	0.65815	0.995	P	0.54815	0.761	T	0.51601	-0.8685	10	0.62326	D	0.03	.	17.8938	0.88880	0.0:0.0:1.0:0.0	.	1919	Q6UB99	ANR11_HUMAN	V	1919	ENSP00000301030:A1919V;ENSP00000367581:A1919V	ENSP00000301030:A1919V	A	-	2	0	ANKRD11	87874695	1.000000	0.71417	0.997000	0.53966	0.445000	0.32107	5.064000	0.64338	2.301000	0.77427	0.450000	0.29827	GCG	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000430462.3		-	ENST00000301030.4	Missense_Mutation	SNP	16 : 89347194 - 89347194 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	438	68
RIF1	55183	broad.mit.edu	37	2	152322115	152322115	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152322115C>T	ENST00000243326.5	+	29	6564	c.6081C>T	c.(6079-6081)ggC>ggT	p.G2027G	RIF1_ENST00000430328.2_Silent_p.G2027G|RIF1_ENST00000428287.2_Silent_p.G2027G|RIF1_ENST00000453091.2_Silent_p.G2027G|RIF1_ENST00000444746.2_Silent_p.G2027G			Q5UIP0	RIF1_HUMAN	replication timing regulatory factor 1	NA	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGATGATCGGCGAGGCAATGG	0.418		NA											T	5	0.0023	NA	NA	2184	0.01	1	,	,	NA	3e-04	0.0013	NA	NA	0.0023	1	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0								T	,,,	0,4406		0,0,2203	76	68	71		6081,6081,6081,6081	-4.9	0	2		71	1,8599	818.9+/-406.8	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RIF1	NM_001177663.1,NM_001177664.1,NM_001177665.1,NM_018151.4	,,,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,,,	2027/2447,2027/2447,2027/2447,2027/2473	152322115	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345	55183	55183			23207	protein-coding gene	gene with protein product		608952	RAP1 interacting factor homolog (yeast)		NA	15342490, 15042697, 22850674	Standard		NM_018151	NA	Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.6081C>T	2.37:g.152322115C>T		NA	A6NC27|C9JBR1|Q5H9R3|Q5UIP2|Q66YK6|Q6PRU2|Q8TE94|Q99772|Q9H830|Q9H9B9|Q9NVP5|Q9Y4R4	37	CCDS2194.1																																																																																			RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254836.3		+	ENST00000243326.5	Silent	SNP	2 : 152322115 - 152322115 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	229	9
GBP5	115362	broad.mit.edu	37	1	89727941	89727941	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89727941G>T	ENST00000370459.3	-	10	1736	c.1609C>A	c.(1609-1611)Ctg>Atg	p.L537M	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000471171.1_5'UTR|GBP5_ENST00000343435.5_Missense_Mutation_p.L537M			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	537						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TGCTCTGCCAGCCAATTTTGT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													246	210	222			NA	NA	1		NA											NA				89727941		2203	4300	6503	SO:0001583	missense			AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451	115362	115362			19895	protein-coding gene	gene with protein product		611467			NA		Standard	NM_052942	NM_052942	NA	Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.1609C>A	1.37:g.89727941G>T	ENSP00000359488:p.Leu537Met	NA	B2RCE1	37	CCDS722.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.794136	0.31777	.	.	ENSG00000154451	ENST00000343435;ENST00000370459	T;T	0.57595	0.39;0.39	4.86	-6.53	0.01866	Guanylate-binding protein, C-terminal (3);	2.711920	0.01238	N	0.008520	T	0.20536	0.0494	L	0.41124	1.26	0.09310	N	1	P	0.44478	0.836	P	0.45577	0.486	T	0.31280	-0.9949	10	0.35671	T	0.21	2.8724	0.2147	0.00160	0.3135:0.2222:0.2393:0.2251	.	537	Q96PP8	GBP5_HUMAN	M	537	ENSP00000340396:L537M;ENSP00000359488:L537M	ENSP00000340396:L537M	L	-	1	2	GBP5	89500529	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.974000	0.03794	-1.049000	0.03234	-0.196000	0.12772	CTG	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000027700.1		-	ENST00000370459.3	Missense_Mutation	SNP	1 : 89727941 - 89727941 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	564	127
ARSB	411	broad.mit.edu	37	5	78264847	78264847	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78264847C>A	ENST00000264914.4	-	2	1017	c.481G>T	c.(481-483)Gga>Tga	p.G161*	ARSB_ENST00000565165.1_Nonsense_Mutation_p.G161*|ARSB_ENST00000396151.3_Nonsense_Mutation_p.G161*	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	161					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		GTATCAAATCCTCGGCGGGTT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(169;563 1968 25780 26156 52266)							NA				0													127	124	125			NA	NA	5		NA											NA				78264847		2203	4300	6503	SO:0001587	stop_gained			M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	411	411	3.1.6.1	Arylsulfatase family	714	protein-coding gene	gene with protein product		611542			NA	2303452	Standard	NM_000046	NM_000046	NA	Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.481G>T	5.37:g.78264847C>A	ENSP00000264914:p.Gly161*	NA	B2RC20|Q9UDI9	37	CCDS4043.1	.	.	.	.	.	.	.	.	.	.	C	44	11.112110	0.99517	.	.	ENSG00000113273	ENST00000264914;ENST00000396151	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	.	.	.	X	161	.	ENSP00000264914:G161X	G	-	1	0	ARSB	78300603	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.642000	0.83385	2.894000	0.99253	0.655000	0.94253	GGA	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226932.2		-	ENST00000264914.4	Nonsense_Mutation	SNP	5 : 78264847 - 78264847 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	687	73
AKR1C1	1645	broad.mit.edu	37	10	5014837	5014837	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5014837C>T	ENST00000380872.4	+	7	934	c.742C>T	c.(742-744)Cac>Tac	p.H248Y	AKR1C1_ENST00000434459.2_Missense_Mutation_p.H248Y|AKR1C1_ENST00000477661.1_3'UTR	NM_001353.5	NP_001344.2			aldo-keto reductase family 1, member C1	NA										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13						GGCAAAAAAGCACAAGCGAAC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(130;2054 2316 13360 15380)							NA				0													67	73	71			NA	NA	10		NA											NA				5014837		2203	4299	6502	SO:0001583	missense			D26124	CCDS7061.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000187134	ENSG00000187134	1645	1645	1.3.1.20, 1.1.1.149, 1.1.1.112	Aldo-keto reductases	384	protein-coding gene	gene with protein product	dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase	600449	aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase)	DDH1	NA	8011662	Standard	NM_001353	NM_001353	NA	Approved	DDH, MBAB, DD1, HAKRC		Q04828	OTTHUMG00000017580	ENST00000380872.4:c.742C>T	10.37:g.5014837C>T	ENSP00000370254:p.His248Tyr	NA		37	CCDS7061.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.885545	0.00532	.	.	ENSG00000187134	ENST00000434459;ENST00000380872	T;T	0.50277	0.75;0.75	1.97	-0.0292	0.13919	NADP-dependent oxidoreductase domain (3);	0.510657	0.19036	N	0.124408	T	0.15739	0.0379	N	0.01686	-0.76	0.34677	D	0.724286	B	0.15473	0.013	B	0.26693	0.072	T	0.24835	-1.0149	10	0.07482	T	0.82	.	4.8837	0.13692	0.0:0.4389:0.0:0.5611	.	248	Q04828	AK1C1_HUMAN	Y	248	ENSP00000412248:H248Y;ENSP00000370254:H248Y	ENSP00000370254:H248Y	H	+	1	0	AKR1C1	5004837	0.976000	0.34144	0.060000	0.19600	0.317000	0.28152	0.882000	0.28186	-0.016000	0.14127	0.305000	0.20034	CAC	AKR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046523.2		+	ENST00000380872.4	Missense_Mutation	SNP	10 : 5014837 - 5014837 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	367	93
ERLIN1	10613	broad.mit.edu	37	10	101912014	101912014	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101912014G>A	ENST00000421367.2	-	11	3628	c.921C>T	c.(919-921)ttC>ttT	p.F307F	ERLIN1_ENST00000407654.3_Silent_p.F307F	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN	ER lipid raft associated 1	305					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding				NA		Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		AGGAGTCCACGAACATGTTAG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	116	117			NA	NA	10		NA											NA				101912014		2203	4300	6503	SO:0001819	synonymous_variant			AF064093	CCDS7487.2	10q24.31	2014-03-03	2007-01-26	2007-01-26	ENSG00000107566	ENSG00000107566	10613	10613			16947	protein-coding gene	gene with protein product	Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9	611604	chromosome 10 open reading frame 69, SPFH domain family, member 1	C10orf69, SPFH1	NA	11118313, 16835267, 24482476	Standard	NM_006459	NM_006459	NA	Approved	KE04, Erlin-1, SPG62	uc001kqo.4	O75477	OTTHUMG00000018900	ENST00000421367.2:c.921C>T	10.37:g.101912014G>A		NA	B0QZ42|Q53HV0	37	CCDS7487.2																																																																																			ERLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049840.2		-	ENST00000421367.2	Silent	SNP	10 : 101912014 - 101912014 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	434	95
EPHA8	2046	broad.mit.edu	37	1	22903086	22903086	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22903086G>A	ENST00000166244.3	+	3	608	c.536G>A	c.(535-537)cGc>cAc	p.R179H	EPHA8_ENST00000374644.4_Missense_Mutation_p.R179H|EPHA8_ENST00000538803.1_Missense_Mutation_p.R179H	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	179			R -> C (in a gastric adenocarcinoma sample; somatic mutation).			integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTCAGCAAGCGCGGCTTCTAC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	72	75			NA	NA	1		NA											NA				22903086		2203	4300	6503	SO:0001583	missense			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2046	2046	2.7.10.1	EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3391	protein-coding gene	gene with protein product		176945	EphA8	EEK	NA	1648701	Standard	NM_020526	NM_001006943	NA	Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.536G>A	1.37:g.22903086G>A	ENSP00000166244:p.Arg179His	NA	Q9NUA9|Q9P269	37	CCDS225.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555036	0.65425	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.10382	2.88;2.88;2.88	3.93	3.93	0.45458	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000002	T	0.27063	0.0663	M	0.66439	2.03	0.45554	D	0.998501	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.988	T	0.00847	-1.1542	10	0.59425	D	0.04	.	8.6547	0.34055	0.1084:0.0:0.8916:0.0	.	179;179	P29322;P29322-2	EPHA8_HUMAN;.	H	179	ENSP00000166244:R179H;ENSP00000363775:R179H;ENSP00000440274:R179H	ENSP00000166244:R179H	R	+	2	0	EPHA8	22775673	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.435000	0.52849	2.008000	0.58898	0.442000	0.29010	CGC	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000008085.1		+	ENST00000166244.3	Missense_Mutation	SNP	1 : 22903086 - 22903086 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	72
OR52E8	390079	broad.mit.edu	37	11	5878211	5878211	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5878211T>C	ENST00000537935.1	-	1	753	c.722A>G	c.(721-723)aAa>aGa	p.K241R	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTTGAGAGCTTTGAGTCGAGC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	94	91			NA	NA	11		NA											NA				5878211		2141	4296	6437	SO:0001583	missense			BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269	390079	390079		GPCR / Class A : Olfactory receptors	15217	protein-coding gene	gene with protein product			olfactory receptor, family 52, subfamily E, member 8 pseudogene		NA		Standard	NM_001005168	NM_001005168	NA	Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.722A>G	11.37:g.5878211T>C	ENSP00000444054:p.Lys241Arg	NA	B9EH38	37	CCDS31400.1	.	.	.	.	.	.	.	.	.	.	T	16.41	3.116343	0.56505	.	.	ENSG00000183269	ENST00000537935	T	0.00360	7.86	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.121577	0.39407	N	0.001364	T	0.00552	0.0018	M	0.77313	2.365	0.34493	D	0.705219	P	0.44877	0.845	P	0.50825	0.651	T	0.65179	-0.6231	10	0.62326	D	0.03	.	12.8816	0.58020	0.0:0.0:0.0:1.0	.	241	Q6IFG1	O52E8_HUMAN	R	241	ENSP00000444054:K241R	ENSP00000444054:K241R	K	-	2	0	OR52E8	5834787	1.000000	0.71417	0.973000	0.42090	0.802000	0.45316	7.539000	0.82063	1.985000	0.57927	0.448000	0.29417	AAA	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401145.1		-	ENST00000537935.1	Missense_Mutation	SNP	11 : 5878211 - 5878211 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	377	62
LRFN5	145581	broad.mit.edu	37	14	42356347	42356347	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:42356347G>A	ENST00000554171.1	+	5	2951	c.519G>A	c.(517-519)ttG>ttA	p.L173L	LRFN5_ENST00000298119.4_Silent_p.L173L|LRFN5_ENST00000554120.1_Silent_p.L173L			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	173						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGGTTAGCTTGCATACCCTTA	0.413		NA								HNSCC(30;0.082)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	71	76			NA	NA	14		NA											NA				42356347		2203	4300	6503	SO:0001819	synonymous_variant			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379	145581	145581		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	20360	protein-coding gene	gene with protein product	fibronectin type III, immunoglobulin and leucine rich repeat domains 8	612811	chromosome 14 open reading frame 146	C14orf146	NA	16828986	Standard	NM_152447	NM_152447	NA	Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000554171.1:c.519G>A	14.37:g.42356347G>A		NA	B3KU78|Q86XL2	37																																																																																				LRFN5-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000410001.1		+	ENST00000554171.1	Silent	SNP	14 : 42356347 - 42356347 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	231	45
DOPEY1	23033	broad.mit.edu	37	6	83866927	83866927	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83866927C>T	ENST00000349129.2	+	35	6891	c.6631C>T	c.(6631-6633)Cca>Tca	p.P2211S	DOPEY1_ENST00000237163.5_Intron|DOPEY1_ENST00000369739.3_Missense_Mutation_p.P2202S|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2211					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCTCCGTTTGCCACAGGTGCC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	137	141			NA	NA	6		NA											NA				83866927		2203	4300	6503	SO:0001583	missense			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097	23033	23033			21194	protein-coding gene	gene with protein product			KIAA1117	KIAA1117	NA	16301316, 16303751, 10931277	Standard	NM_015018	NM_015018	NA	Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.6631C>T	6.37:g.83866927C>T	ENSP00000195654:p.Pro2211Ser	NA	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	37	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.428600	0.43122	.	.	ENSG00000083097	ENST00000349129	T	0.39592	1.07	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.21801	0.0525	L	0.35487	1.065	0.80722	D	1	B;P;B	0.39665	0.107;0.682;0.086	B;B;B	0.33890	0.017;0.172;0.013	T	0.02797	-1.1109	10	0.25751	T	0.34	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	2102;2202;2211	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	S	2211	ENSP00000195654:P2211S	ENSP00000195654:P2211S	P	+	1	0	DOPEY1	83923646	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	7.487000	0.81328	2.857000	0.98124	0.650000	0.86243	CCA	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043785.2		+	ENST00000349129.2	Missense_Mutation	SNP	6 : 83866927 - 83866927 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	511	86
DOK5	55816	broad.mit.edu	37	20	53208230	53208230	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:53208230A>C	ENST00000262593.5	+	5	835	c.485A>C	c.(484-486)gAg>gCg	p.E162A	DOK5_ENST00000395939.1_Missense_Mutation_p.E54A	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	162	IRS-type PTB.						insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			ATTACATATGAGTATATCTGT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	139	143			NA	NA	20		NA											NA				53208230		2203	4300	6503	SO:0001583	missense			AF132732	CCDS13446.1, CCDS13447.1	20q13.2	2013-01-10	2002-11-28	2002-11-29	ENSG00000101134	ENSG00000101134	55816	55816		Pleckstrin homology (PH) domain containing	16173	protein-coding gene	gene with protein product		608334	chromosome 20 open reading frame 180	C20orf180	NA	11470823	Standard		XM_005260451	NA	Approved	dJ805C22.1	uc002xwy.3	Q9P104	OTTHUMG00000032778	ENST00000262593.5:c.485A>C	20.37:g.53208230A>C	ENSP00000262593:p.Glu162Ala	NA	Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	37	CCDS13446.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.697260	0.88830	.	.	ENSG00000101134	ENST00000262593;ENST00000395939	T;T	0.75477	-0.94;-0.94	5.66	5.66	0.87406	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	0.000000	0.85682	D	0.000000	D	0.84906	0.5576	M	0.76002	2.32	0.58432	D	0.999999	P;D	0.58970	0.906;0.984	P;D	0.72075	0.651;0.976	D	0.84323	0.0517	10	0.36615	T	0.2	-21.0585	14.721	0.69305	1.0:0.0:0.0:0.0	.	54;162	Q9P104-2;Q9P104	.;DOK5_HUMAN	A	162;54	ENSP00000262593:E162A;ENSP00000379270:E54A	ENSP00000262593:E162A	E	+	2	0	DOK5	52641637	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.270000	0.95690	2.155000	0.67459	0.528000	0.53228	GAG	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079777.2		+	ENST00000262593.5	Missense_Mutation	SNP	20 : 53208230 - 53208230 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	437	87
ELMOD2	255520	broad.mit.edu	37	4	141464612	141464612	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141464612C>T	ENST00000323570.3	+	8	740	c.608C>T	c.(607-609)tCt>tTt	p.S203F		NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	203	ELMO.				phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					CATAGGTATTCTTATGCAATA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	129	127			NA	NA	4		NA											NA				141464612		2203	4297	6500	SO:0001583	missense			BX648349	CCDS3752.1	4q31.1	2006-10-24	2006-01-20		ENSG00000179387	ENSG00000179387	255520	255520			28111	protein-coding gene	gene with protein product		610196	ELMO domain containing 2		NA	16773575	Standard	NM_153702	NM_153702	NA	Approved	MGC10084	uc003iik.3	Q8IZ81	OTTHUMG00000133417	ENST00000323570.3:c.608C>T	4.37:g.141464612C>T	ENSP00000326342:p.Ser203Phe	NA	B2R712|D3DNZ0	37	CCDS3752.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.855224	0.71719	.	.	ENSG00000179387	ENST00000323570	T	0.30981	1.51	6.16	6.16	0.99307	Engulfment/cell motility, ELMO (2);	0.000000	0.85682	D	0.000000	T	0.56790	0.2009	L	0.61036	1.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.48258	-0.9051	10	0.49607	T	0.09	-1.3426	20.8598	0.99761	0.0:1.0:0.0:0.0	.	203	Q8IZ81	ELMD2_HUMAN	F	203	ENSP00000326342:S203F	ENSP00000326342:S203F	S	+	2	0	ELMOD2	141684062	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.777000	0.68931	2.937000	0.99478	0.650000	0.86243	TCT	ELMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257277.2		+	ENST00000323570.3	Missense_Mutation	SNP	4 : 141464612 - 141464612 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	619	101
ANKRD30A	91074	broad.mit.edu	37	10	37441021	37441021	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:37441021A>G	ENST00000374660.1	+	12	1610	c.1511A>G	c.(1510-1512)gAc>gGc	p.D504G	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.D504G|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.D504G			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	560						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAACAAAAGGACTATGAAGAA	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	110	114			NA	NA	10		NA											NA				37441021		1798	4065	5863	SO:0001583	missense			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513	91074	91074		Ankyrin repeat domain containing	17234	protein-coding gene	gene with protein product	breast cancer antigen NY-BR-1	610856			NA	11280766	Standard	NM_052997	NM_052997	NA	Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000374660.1:c.1511A>G	10.37:g.37441021A>G	ENSP00000363792:p.Asp504Gly	NA	Q5W025	37		.	.	.	.	.	.	.	.	.	.	.	11.34	1.611090	0.28712	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.07114	3.22;3.22	1.71	1.71	0.24356	.	.	.	.	.	T	0.13586	0.0329	L	0.29908	0.895	0.09310	N	1	D	0.63880	0.993	D	0.68192	0.956	T	0.15636	-1.0430	9	0.49607	T	0.09	.	5.5239	0.16947	1.0:0.0:0.0:0.0	.	560	Q9BXX3	AN30A_HUMAN	G	504	ENSP00000354432:D504G;ENSP00000363792:D504G	ENSP00000354432:D504G	D	+	2	0	ANKRD30A	37481027	0.097000	0.21791	0.130000	0.21974	0.004000	0.04260	0.505000	0.22642	1.038000	0.40049	0.315000	0.21342	GAC	ANKRD30A-002	PUTATIVE	NMD_exception|basic	protein_coding	NA	protein_coding	OTTHUMT00000047589.2		+	ENST00000374660.1	Missense_Mutation	SNP	10 : 37441021 - 37441021 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	48
PARP8	79668	broad.mit.edu	37	5	50090042	50090042	+	Splice_Site	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:50090042A>T	ENST00000281631.5	+	11	897	c.739A>T	c.(739-741)Atc>Ttc	p.I247F	PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505554.1_Splice_Site_p.I226F|PARP8_ENST00000503750.2_Splice_Site_p.I247F|PARP8_ENST00000514067.2_Splice_Site_p.I247F|PARP8_ENST00000505697.2_Splice_Site_p.I247F|PARP8_ENST00000514342.2_5'UTR	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	247						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GATTGACAGAATCATGCAGAC	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	84	83			NA	NA	5		NA											NA				50090042		2203	4300	6503	SO:0001630	splice_region_variant			AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883	79668	79668		Poly (ADP-ribose) polymerases	26124	protein-coding gene	gene with protein product					NA	15273990	Standard	NM_024615	NM_001178055	NA	Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.738-1A>T	5.37:g.50090042A>T		NA	Q3KRB7|Q6DHZ1|Q9H754	37	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	A	15.96	2.986158	0.53934	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000281631;ENST00000514067;ENST00000505554	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.51398	0.1672	L	0.43923	1.385	0.80722	D	1	B;D;D	0.53885	0.064;0.962;0.963	B;P;P	0.49853	0.046;0.608;0.624	T	0.49447	-0.8939	8	.	.	.	-13.2808	10.9049	0.47073	0.9264:0.0:0.0736:0.0	.	139;247;247	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	F	247;247;247;247;226	.	.	I	+	1	0	PARP8	50125799	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.649000	0.74364	2.172000	0.68678	0.533000	0.62120	ATC	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214035.3	Missense_Mutation	+	ENST00000281631.5	Splice_Site	SNP	5 : 50090042 - 50090042 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	291	58
ZNF354B	117608	broad.mit.edu	37	5	178310195	178310195	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178310195T>C	ENST00000322434.3	+	5	968	c.742T>C	c.(742-744)Tta>Cta	p.L248L		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAAAGAATGTTTAAAAGCTTT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	76	72			NA	NA	5		NA											NA				178310195		2202	4292	6494	SO:0001819	synonymous_variant			AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338	117608	117608		Zinc fingers, C2H2-type, -	17197	protein-coding gene	gene with protein product					NA		Standard	NM_058230	NM_058230	NA	Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.742T>C	5.37:g.178310195T>C		NA	A8K0V2|Q5U5Z4	37	CCDS4439.1																																																																																			ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253482.1		+	ENST00000322434.3	Silent	SNP	5 : 178310195 - 178310195 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	769	196
ARAP3	64411	broad.mit.edu	37	5	141046090	141046090	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141046090C>T	ENST00000508305.1	-	17	2428	c.2179G>A	c.(2179-2181)Ggc>Agc	p.G727S	ARAP3_ENST00000239440.4_Missense_Mutation_p.G825S|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Missense_Mutation_p.G487S			Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	825					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CGAAGGAGGCCAAACCCTGAC	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	22	20			NA	NA	5		NA											NA				141046090		2201	4299	6500	SO:0001583	missense			AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318	64411	64411		ADP-ribosylation factor GTPase activating proteins, Sterile alpha motif (SAM) domain containing, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing	24097	protein-coding gene	gene with protein product		606647	centaurin, delta 3	CENTD3	NA	11804589, 12015138	Standard	NM_022481	XM_005268497	NA	Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000508305.1:c.2179G>A	5.37:g.141046090C>T	ENSP00000421826:p.Gly727Ser	NA	D3DQE3	37		.	.	.	.	.	.	.	.	.	.	C	17.86	3.491677	0.64074	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.28895	1.59;1.59;1.59	5.53	5.53	0.82687	Pleckstrin homology domain (1);	0.240387	0.40302	N	0.001133	T	0.37156	0.0993	N	0.22421	0.69	0.36747	D	0.882547	D;D;D	0.67145	0.979;0.996;0.993	P;P;P	0.61477	0.69;0.889;0.777	T	0.42498	-0.9448	10	0.66056	D	0.02	.	12.3757	0.55279	0.2788:0.7212:0.0:0.0	.	487;727;825	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	S	727;825;487	ENSP00000421826:G727S;ENSP00000239440:G825S;ENSP00000421468:G487S	ENSP00000239440:G825S	G	-	1	0	ARAP3	141026274	1.000000	0.71417	0.985000	0.45067	0.974000	0.67602	5.232000	0.65332	2.593000	0.87608	0.655000	0.94253	GGC	ARAP3-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000373653.2		-	ENST00000508305.1	Missense_Mutation	SNP	5 : 141046090 - 141046090 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	121	20
C18orf21	83608	broad.mit.edu	37	18	33557545	33557545	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33557545G>A	ENST00000592875.1	+	4	1119	c.473G>A	c.(472-474)aGc>aAc	p.S158N	C18orf21_ENST00000333234.5_Missense_Mutation_p.S70N	NM_031446.4	NP_113634.3	Q32NC0	CR021_HUMAN	chromosome 18 open reading frame 21	158										endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						AAAGGCAAGAGCCCAGCATCG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	86	87			NA	NA	18		NA											NA				33557545		2203	4300	6503	SO:0001583	missense			BC025950	CCDS11916.2, CCDS56064.1, CCDS74212.1	18q12.2	2004-05-05			ENSG00000141428	ENSG00000141428	83608	83608			28802	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_031446	NM_031446	NA	Approved	PNAS-131, PNAS-124, HsT3108	uc002kzc.3	Q32NC0	OTTHUMG00000128531	ENST00000592875.1:c.473G>A	18.37:g.33557545G>A	ENSP00000465517:p.Ser158Asn	NA	Q6GW03|Q9BXV6|Q9BXW2	37	CCDS11916.2	.	.	.	.	.	.	.	.	.	.	G	14.45	2.540082	0.45176	.	.	ENSG00000141428	ENST00000333234;ENST00000269194	T	0.53423	0.62	5.65	3.86	0.44501	.	0.320112	0.40554	N	0.001075	T	0.65811	0.2727	M	0.78637	2.42	0.31608	N	0.651927	D	0.89917	1.0	D	0.85130	0.997	T	0.71094	-0.4692	10	0.72032	D	0.01	.	9.0176	0.36179	0.1709:0.0:0.8291:0.0	.	158	Q32NC0	CR021_HUMAN	N	158;70	ENSP00000269194:S70N	ENSP00000269194:S70N	S	+	2	0	C18orf21	31811543	0.996000	0.38824	0.993000	0.49108	0.273000	0.26683	1.985000	0.40668	0.853000	0.35312	0.650000	0.86243	AGC	C18orf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250364.1		+	ENST00000592875.1	Missense_Mutation	SNP	18 : 33557545 - 33557545 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	387	70
NCOA5	57727	broad.mit.edu	37	20	44699120	44699120	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44699120G>A	ENST00000290231.6	-	3	258	c.94C>T	c.(94-96)Cga>Tga	p.R32*		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	32	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	p.R32*(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				GGACTTCCTCGAATTGGGGAT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Nonsense(1)	large_intestine(1)											101	100	100			NA	NA	20		NA											NA				44699120		2203	4300	6503	SO:0001587	stop_gained				CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160	57727	57727			15909	protein-coding gene	gene with protein product	coactivator independent of AF-2				NA	11780052, 11113208	Standard	NM_020967	XM_005260474	NA	Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.94C>T	20.37:g.44699120G>A	ENSP00000290231:p.Arg32*	NA	B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	37	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	G	37	5.998698	0.97189	.	.	ENSG00000124160	ENST00000290231	.	.	.	5.39	5.39	0.77823	.	0.145205	0.48286	D	0.000196	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0361	18.3288	0.90262	0.0:0.0:1.0:0.0	.	.	.	.	X	32	.	ENSP00000290231:R32X	R	-	1	2	NCOA5	44132527	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.473000	0.53122	2.801000	0.96364	0.650000	0.86243	CGA	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079559.1		-	ENST00000290231.6	Nonsense_Mutation	SNP	20 : 44699120 - 44699120 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	832	166
PTPRT	11122	broad.mit.edu	37	20	40827959	40827959	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40827959G>A	ENST00000373198.4	-	17	2704	c.2469C>T	c.(2467-2469)gcC>gcT	p.A823A	PTPRT_ENST00000373193.3_Silent_p.A807A|PTPRT_ENST00000373201.1_Silent_p.A794A|PTPRT_ENST00000373187.1_Silent_p.A804A|PTPRT_ENST00000373190.1_Silent_p.A804A|PTPRT_ENST00000373184.1_Silent_p.A794A|PTPRT_ENST00000356100.2_Silent_p.A813A	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	NA					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGGTTTGTCGGCAGAGGCCA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	0,4068		0,0,2034	173	183	180		2412,2469	-10	0.1	20		180	2,8386		0,2,4192	no	coding-synonymous,coding-synonymous	PTPRT	NM_007050.5,NM_133170.3	,	0,2,6226	AA,AG,GG	NA	0.0238,0.0,0.0161	,	804/1442,823/1461	40827959	2,12454	2034	4194	6228	SO:0001819	synonymous_variant			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090	11122	11122		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	9682	protein-coding gene	gene with protein product		608712			NA	9486824, 9602027	Standard		NM_133170	NA	Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373198.4:c.2469C>T	20.37:g.40827959G>A		NA	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	37																																																																																				PTPRT-005	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000080318.2		-	ENST00000373198.4	Silent	SNP	20 : 40827959 - 40827959 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1433	286
RP1L1	94137	broad.mit.edu	37	8	10464701	10464701	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10464701C>A	ENST00000382483.3	-	4	7130	c.6907G>T	c.(6907-6909)Gca>Tca	p.A2303S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2303					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)		CAAGAGGATGCTCTGGAGGAG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													187	190	189			NA	NA	8		NA											NA				10464701		1950	4147	6097	SO:0001583	missense			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.6907G>T	8.37:g.10464701C>A	ENSP00000371923:p.Ala2303Ser	NA		37	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	7.772	0.707590	0.15239	.	.	ENSG00000183638	ENST00000382483	T	0.08370	3.1	4.01	-8.02	0.01118	.	3.056560	0.01886	N	0.038208	T	0.03959	0.0111	N	0.14661	0.345	0.09310	N	1	B	0.18741	0.03	B	0.18263	0.021	T	0.32161	-0.9917	10	0.25106	T	0.35	5.0784	2.6649	0.05041	0.1944:0.4196:0.2104:0.1756	.	2303	A6NKC6	.	S	2303	ENSP00000371923:A2303S	ENSP00000371923:A2303S	A	-	1	0	RP1L1	10502111	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.444000	0.02403	-2.037000	0.00920	-0.431000	0.05894	GCA	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375673.1		-	ENST00000382483.3	Missense_Mutation	SNP	8 : 10464701 - 10464701 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1369	299
IFNGR1	3459	broad.mit.edu	37	6	137519427	137519427	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137519427T>C	ENST00000367739.4	-	7	1332	c.1211A>G	c.(1210-1212)gAg>gGg	p.E404G	IFNGR1_ENST00000543628.1_Missense_Mutation_p.E376G	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	404					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	GTGATCACTCTCAGAACAATT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	78	78			NA	NA	6		NA											NA				137519427		2203	4300	6503	SO:0001583	missense				CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697	3459	3459		Interferons, CD molecules	5439	protein-coding gene	gene with protein product		107470		IFNGR	NA		Standard		NM_000416	NA	Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.1211A>G	6.37:g.137519427T>C	ENSP00000356713:p.Glu404Gly	NA	E1P587|Q53Y96	37	CCDS5185.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.111371	0.56398	.	.	ENSG00000027697	ENST00000367739;ENST00000543628	T;T	0.72167	-0.63;-0.48	5.99	4.84	0.62591	.	1.612290	0.03414	N	0.205248	T	0.37100	0.0991	N	0.08118	0	0.80722	D	1	B;B	0.20550	0.046;0.027	B;B	0.15484	0.013;0.006	T	0.34527	-0.9825	10	0.51188	T	0.08	.	8.0449	0.30542	0.0:0.0881:0.0:0.9119	.	376;404	F5H5M7;P15260	.;INGR1_HUMAN	G	404;376	ENSP00000356713:E404G;ENSP00000443282:E376G	ENSP00000356713:E404G	E	-	2	0	IFNGR1	137561120	0.962000	0.33011	0.941000	0.38009	0.841000	0.47740	2.407000	0.44565	2.297000	0.77311	0.496000	0.49642	GAG	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042401.1		-	ENST00000367739.4	Missense_Mutation	SNP	6 : 137519427 - 137519427 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	254	51
FER1L6	654463	broad.mit.edu	37	8	125131850	125131850	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:125131850G>A	ENST00000522917.1	+	41	5599	c.5393G>A	c.(5392-5394)cGc>cAc	p.R1798H	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.R1798H	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1798						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCCCTCAGCCGCCCAGACACC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	149	149			NA	NA	8		NA											NA				125131850		1922	4125	6047	SO:0001583	missense			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814	654463	654463			28065	protein-coding gene	gene with protein product			fer-1-like 6 (C. elegans)		NA		Standard	NM_001039112	NM_001039112	NA	Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.5393G>A	8.37:g.125131850G>A	ENSP00000428280:p.Arg1798His	NA		37	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	35	5.521546	0.96416	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.86562	-2.14;-2.14	6.17	6.17	0.99709	.	0.000000	0.85682	U	0.000000	D	0.95576	0.8562	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95455	0.8538	10	0.87932	D	0	-21.24	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1798	Q2WGJ9	FR1L6_HUMAN	H	1798	ENSP00000428280:R1798H;ENSP00000381982:R1798H	ENSP00000381982:R1798H	R	+	2	0	FER1L6	125201031	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	CGC	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381400.1		+	ENST00000522917.1	Missense_Mutation	SNP	8 : 125131850 - 125131850 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	667	68
TFEC	22797	broad.mit.edu	37	7	115582018	115582018	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:115582018T>G	ENST00000265440.7	-	7	772	c.592A>C	c.(592-594)Aga>Cga	p.R198R	TFEC_ENST00000320239.7_Silent_p.R169R|TFEC_ENST00000393485.1_Silent_p.R169R|TFEC_ENST00000457268.1_Silent_p.R131R|TFEC_ENST00000484212.1_Silent_p.R288R	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	198						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TCTCGGGCTCTCTGTTGTTCT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													210	202	205			NA	NA	7		NA											NA				115582018		2203	4300	6503	SO:0001819	synonymous_variant			D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967	22797	22797		Basic helix-loop-helix proteins	11754	protein-coding gene	gene with protein product		604732			NA	9256061	Standard	NM_012252	NM_012252	NA	Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.592A>C	7.37:g.115582018T>G		NA	B2R8X5|Q5H9U8|Q709A4|Q8N6J9	37	CCDS5762.1																																																																																			TFEC-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059839.4		-	ENST00000265440.7	Silent	SNP	7 : 115582018 - 115582018 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	839	168
PDK2	5164	broad.mit.edu	37	17	48187434	48187434	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48187434G>T	ENST00000007708.3	+	12	1396	c.1005G>T	c.(1003-1005)aaG>aaT	p.K335N	SAMD14_ENST00000330175.4_3'UTR|PDK2_ENST00000503176.1_Missense_Mutation_p.K399N	NM_001199898.1|NM_001199899.1	NP_001186827.1|NP_001186828.1	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	399	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						CGGAGCCCAAGAACACGTCCA	0.667		NA							Autosomal Dominant Polycystic Kidney Disease					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	39	40			NA	NA	17		NA											NA				48187434		2202	4299	6501	SO:0001583	missense	Familial Cancer Database	ADPKD	L42451	CCDS11559.1, CCDS56039.1	17q21.33	2012-07-18	2005-11-16		ENSG00000005882	ENSG00000005882	5164	5164			8810	protein-coding gene	gene with protein product		602525	pyruvate dehydrogenase kinase, isoenzyme 2		NA	7499431	Standard	NM_002611	NM_001199898	NA	Approved	PDHK2	uc002iqc.3	Q15119	OTTHUMG00000161948	ENST00000007708.3:c.1005G>T	17.37:g.48187434G>T	ENSP00000007708:p.Lys335Asn	NA	A8K3A7|Q6P515|Q9BS05	37	CCDS56039.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076449	0.55753	.	.	ENSG00000005882	ENST00000007708;ENST00000503176	T;T	0.48522	0.82;0.81	4.46	4.46	0.54185	.	0.244342	0.34507	N	0.003917	T	0.44030	0.1274	L	0.48642	1.525	0.80722	D	1	B	0.23316	0.083	B	0.19666	0.026	T	0.46665	-0.9175	10	0.66056	D	0.02	-22.2114	16.2651	0.82574	0.0:0.0:1.0:0.0	.	399	Q15119	PDK2_HUMAN	N	335;399	ENSP00000007708:K335N;ENSP00000420927:K399N	ENSP00000007708:K335N	K	+	3	2	PDK2	45542433	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	6.400000	0.73252	2.203000	0.70933	0.462000	0.41574	AAG	PDK2-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366494.1		+	ENST00000007708.3	Missense_Mutation	SNP	17 : 48187434 - 48187434 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	89	15
ICAM2	3384	broad.mit.edu	37	17	62082714	62082714	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62082714G>A	ENST00000412356.1	-	4	435	c.81C>T	c.(79-81)ttC>ttT	p.F27F	ICAM2_ENST00000579687.1_Silent_p.F27F|ICAM2_ENST00000449662.2_Silent_p.F27F|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000579788.1_Silent_p.F27F|ICAM2_ENST00000578379.1_5'UTR|ICAM2_ENST00000578892.1_Silent_p.F27F|ICAM2_ENST00000418105.1_Silent_p.F27F	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	27					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						CGTGTACCTCGAATACCTTCT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	55	61			NA	NA	17		NA											NA				62082714		2203	4300	6503	SO:0001819	synonymous_variant				CCDS11657.1	17q23.3	2014-01-30			ENSG00000108622	ENSG00000108622	3384	3384		CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Endogenous ligands	5345	protein-coding gene	gene with protein product		146630			NA	1769660	Standard		NM_001099786	NA	Approved	CD102	uc002jdx.4	P13598		ENST00000412356.1:c.81C>T	17.37:g.62082714G>A		NA	Q14600	37	CCDS11657.1																																																																																			ICAM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443687.1		-	ENST00000412356.1	Silent	SNP	17 : 62082714 - 62082714 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	43
FIG4	9896	broad.mit.edu	37	6	110107619	110107619	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:110107619A>C	ENST00000230124.3	+	18	2187	c.2063A>C	c.(2062-2064)gAt>gCt	p.D688A	FIG4_ENST00000441478.2_Missense_Mutation_p.D411A	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	688					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		AGCTTTGATGATACCTTTTGC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	171	174			NA	NA	6		NA											NA				110107619		2203	4300	6503	SO:0001583	missense			D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367	9896	9896			16873	protein-coding gene	gene with protein product		609390	KIAA0274, FIG4 homolog (S. cerevisiae), FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	KIAA0274	NA	9039502, 11274189, 17572665	Standard	NM_014845	NM_014845	NA	Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.2063A>C	6.37:g.110107619A>C	ENSP00000230124:p.Asp688Ala	NA	Q53H49|Q5TCS6	37	CCDS5078.1	.	.	.	.	.	.	.	.	.	.	A	16.12	3.033096	0.54896	.	.	ENSG00000112367	ENST00000441478;ENST00000230124	T;T	0.52295	1.92;0.67	5.5	4.35	0.52113	.	0.271299	0.40640	N	0.001053	T	0.22322	0.0538	L	0.34521	1.04	0.53005	D	0.999962	B;B	0.33103	0.137;0.397	B;B	0.32465	0.092;0.146	T	0.11767	-1.0574	10	0.72032	D	0.01	-27.3375	11.3806	0.49754	0.9291:0.0:0.0709:0.0	.	411;688	F5H8L9;Q92562	.;FIG4_HUMAN	A	411;688	ENSP00000399443:D411A;ENSP00000230124:D688A	ENSP00000230124:D688A	D	+	2	0	FIG4	110214312	1.000000	0.71417	0.885000	0.34714	0.938000	0.57974	6.801000	0.75170	1.040000	0.40099	0.528000	0.53228	GAT	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041768.1		+	ENST00000230124.3	Missense_Mutation	SNP	6 : 110107619 - 110107619 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	680	111
CACNA1E	777	broad.mit.edu	37	1	181701985	181701985	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181701985C>T	ENST00000526775.1	+	19	2871	c.2706C>T	c.(2704-2706)agC>agT	p.S902S	CACNA1E_ENST00000367573.2_Silent_p.S921S|CACNA1E_ENST00000358338.5_Silent_p.S853S|CACNA1E_ENST00000367567.4_Silent_p.S528S|CACNA1E_ENST00000367570.1_Silent_p.S921S|CACNA1E_ENST00000360108.3_Silent_p.S902S|CACNA1E_ENST00000357570.5_Silent_p.S872S	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	921					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AACGGCGCAGCCGGCATCGCC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	63	60			NA	NA	1		NA											NA				181701985		2125	4249	6374	SO:0001819	synonymous_variant			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216	777	777		Calcium channel subunits, Voltage-gated ion channels / Calcium channels, EF-hand domain containing	1392	protein-coding gene	gene with protein product		601013		CACNL1A6	NA	8388125, 16382099	Standard	NM_000721	NM_001205293	NA	Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000526775.1:c.2706C>T	1.37:g.181701985C>T		NA	B1AM12|B1AM13|B1AM14|Q14580|Q14581	37	CCDS55665.1																																																																																			CACNA1E-002	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090792.2		+	ENST00000526775.1	Silent	SNP	1 : 181701985 - 181701985 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	722	72
P2RY13	53829	broad.mit.edu	37	3	151046196	151046196	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151046196A>C	ENST00000325602.5	-	2	667	c.648T>G	c.(646-648)atT>atG	p.I216M	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	216						integral to membrane|plasma membrane		p.I195M(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			CAGTCCAGAAAATAAACTGGC	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	ovary(1)											62	67	65			NA	NA	3		NA											NA				151046196		2203	4300	6503	SO:0001583	missense			AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631	53829	53829		Purinergic receptors, GPCR / Class A : Purinergic receptors, P2Y	4537	protein-coding gene	gene with protein product		606380	G protein-coupled receptor 86	GPR94, GPR86	NA	11273702, 11574155	Standard	NM_023914	NM_176894	NA	Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.648T>G	3.37:g.151046196A>C	ENSP00000320376:p.Ile216Met	NA	B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	37	CCDS3158.2	.	.	.	.	.	.	.	.	.	.	A	16.50	3.141912	0.57044	.	.	ENSG00000181631	ENST00000325602	T	0.72835	-0.69	5.64	-0.413	0.12363	GPCR, rhodopsin-like superfamily (1);	0.168065	0.52532	D	0.000079	T	0.74703	0.3751	L	0.58969	1.84	0.37738	D	0.925501	D	0.61080	0.989	D	0.71414	0.973	T	0.72184	-0.4367	10	0.45353	T	0.12	-17.9008	6.2401	0.20785	0.3171:0.0:0.5344:0.1485	.	216	Q9BPV8	P2Y13_HUMAN	M	216	ENSP00000320376:I216M	ENSP00000320376:I216M	I	-	3	3	P2RY13	152528886	0.074000	0.21230	0.968000	0.41197	0.958000	0.62258	-0.034000	0.12225	0.112000	0.17975	0.456000	0.33151	ATT	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341468.1		-	ENST00000325602.5	Missense_Mutation	SNP	3 : 151046196 - 151046196 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	62
NTS	4922	broad.mit.edu	37	12	86272330	86272330	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:86272330G>A	ENST00000256010.6	+	3	450	c.343G>A	c.(343-345)Gct>Act	p.A115T	NTS_ENST00000551529.1_Intron	NM_006183.4	NP_006174.1	P30990	NEUT_HUMAN	neurotensin	115					regulation of blood vessel size|signal transduction	extracellular region|soluble fraction|transport vesicle	neuropeptide hormone activity			large_intestine(2)|lung(6)	8						TCACAGCAGGGCTTTTCAACA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	71	71			NA	NA	12		NA											NA				86272330		2203	4300	6503	SO:0001583	missense				CCDS9029.1	12q21.31	2013-02-26			ENSG00000133636	ENSG00000133636	4922	4922		Endogenous ligands	8038	protein-coding gene	gene with protein product	neuromedin N, pro-neurotensin/neuromedin	162650			NA		Standard		NM_006183	NA	Approved		uc001tag.3	P30990	OTTHUMG00000169832	ENST00000256010.6:c.343G>A	12.37:g.86272330G>A	ENSP00000256010:p.Ala115Thr	NA		37	CCDS9029.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.773904	0.49786	.	.	ENSG00000133636	ENST00000256010;ENST00000550879	.	.	.	5.32	5.32	0.75619	.	0.294351	0.34750	N	0.003709	T	0.49474	0.1559	L	0.50333	1.59	0.34515	D	0.707496	P	0.39717	0.684	B	0.41036	0.346	T	0.61628	-0.7024	9	0.32370	T	0.25	-2.8639	13.3229	0.60442	0.0757:0.0:0.9243:0.0	.	115	P30990	NEUT_HUMAN	T	115;60	.	ENSP00000256010:A115T	A	+	1	0	NTS	84796461	0.999000	0.42202	1.000000	0.80357	0.967000	0.64934	2.658000	0.46733	2.477000	0.83638	0.563000	0.77884	GCT	NTS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406111.2		+	ENST00000256010.6	Missense_Mutation	SNP	12 : 86272330 - 86272330 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	422	88
STARD6	147323	broad.mit.edu	37	18	51851195	51851195	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51851195C>T	ENST00000580990.2	-	4	378	c.158G>A	c.(157-159)gGa>gAa	p.G53E	STARD6_ENST00000307844.3_Missense_Mutation_p.G177E|STARD6_ENST00000581310.1_Missense_Mutation_p.G177E			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	177	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		GGACAATTTTCCTCTCATTTC	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	132	133			NA	NA	18		NA											NA				51851195		2203	4300	6503	SO:0001583	missense			AF480305	CCDS11955.1	18q21.2	2011-09-12	2007-08-16		ENSG00000174448	ENSG00000174448	147323	147323		StAR-related lipid transfer (START) domain containing	18066	protein-coding gene	gene with protein product		607051	START domain containing 6		NA	12011452	Standard	NM_139171	NM_139171	NA	Approved		uc010xdt.2	P59095	OTTHUMG00000132702	ENST00000580990.2:c.158G>A	18.37:g.51851195C>T	ENSP00000463611:p.Gly53Glu	NA		37		.	.	.	.	.	.	.	.	.	.	C	13.16	2.153918	0.38021	.	.	ENSG00000174448	ENST00000307844	T	0.81415	-1.49	5.53	5.53	0.82687	Lipid-binding START (3);START-like domain (1);	0.000000	0.64402	D	0.000003	D	0.90041	0.6890	M	0.83118	2.625	0.45747	D	0.998645	D	0.89917	1.0	D	0.97110	1.0	D	0.91181	0.4976	10	0.87932	D	0	.	14.9523	0.71083	0.0:1.0:0.0:0.0	.	177	P59095	STAR6_HUMAN	E	177	ENSP00000310814:G177E	ENSP00000310814:G177E	G	-	2	0	STARD6	50105193	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.665000	0.46791	2.586000	0.87340	0.411000	0.27672	GGA	STARD6-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000447972.2		-	ENST00000580990.2	Missense_Mutation	SNP	18 : 51851195 - 51851195 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	293	56
PCDHGC5	56097	broad.mit.edu	37	5	140870861	140870861	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140870861C>A	ENST00000252087.1	+	1	2054	c.2054C>A	c.(2053-2055)cCt>cAt	p.P685H	PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	685					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATACACCCTCCTGAGCGTTCA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													205	187	193			NA	NA	5		NA											NA				140870861		2203	4300	6503	SO:0001583	missense			AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764	56097	56097		Cadherins / Protocadherins : Clustered	8718	other	protocadherin		606306			NA	10380929	Standard	NM_018929	NM_018929	NA	Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.2054C>A	5.37:g.140870861C>A	ENSP00000252087:p.Pro685His	NA	Q9Y5C2	37	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	C	8.392	0.840067	0.16891	.	.	ENSG00000240764	ENST00000252087	T	0.49720	0.77	4.7	3.76	0.43208	.	0.174914	0.28724	N	0.014353	T	0.45337	0.1337	L	0.46157	1.445	0.09310	N	1	P;P	0.51240	0.943;0.844	P;B	0.46940	0.532;0.195	T	0.43032	-0.9416	10	0.66056	D	0.02	.	10.9736	0.47452	0.1482:0.7223:0.1295:0.0	.	685;685	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	H	685	ENSP00000252087:P685H	ENSP00000252087:P685H	P	+	2	0	PCDHGC5	140851045	0.000000	0.05858	0.993000	0.49108	0.395000	0.30598	0.178000	0.16820	2.428000	0.82296	0.561000	0.74099	CCT	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251819.1		+	ENST00000252087.1	Missense_Mutation	SNP	5 : 140870861 - 140870861 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	923	182
SYT10	341359	broad.mit.edu	37	12	33559978	33559978	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:33559978G>T	ENST00000228567.3	-	3	1119	c.823C>A	c.(823-825)Ctt>Att	p.L275I	SYT10_ENST00000535526.1_Missense_Mutation_p.L94I	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	275	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TCTGGAAGAAGATACATCTTC	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	66	66			NA	NA	12		NA											NA				33559978		2203	4300	6503	SO:0001583	missense			AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975	341359	341359		Synaptotagmins	19266	protein-coding gene	gene with protein product					NA		Standard	NM_198992	NM_198992	NA	Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.823C>A	12.37:g.33559978G>T	ENSP00000228567:p.Leu275Ile	NA	Q495U2	37	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286843	0.80803	.	.	ENSG00000110975	ENST00000228567;ENST00000535526	T;T	0.71579	-0.58;-0.58	4.94	4.94	0.65067	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.36815	U	0.002390	T	0.80341	0.4605	L	0.46741	1.465	0.58432	D	0.999991	D	0.76494	0.999	D	0.85130	0.997	T	0.79750	-0.1672	10	0.46703	T	0.11	.	18.0323	0.89289	0.0:0.0:1.0:0.0	.	275	Q6XYQ8	SYT10_HUMAN	I	275;94	ENSP00000228567:L275I;ENSP00000438691:L94I	ENSP00000228567:L275I	L	-	1	0	SYT10	33451245	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.355000	0.73041	2.665000	0.90641	0.563000	0.77884	CTT	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403222.1		-	ENST00000228567.3	Missense_Mutation	SNP	12 : 33559978 - 33559978 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	49
LAMA4	3910	broad.mit.edu	37	6	112480017	112480017	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112480017G>A	ENST00000230538.7	-	14	2131	c.1734C>T	c.(1732-1734)aaC>aaT	p.N578N	LAMA4_ENST00000389463.4_Silent_p.N571N|RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000424408.2_Silent_p.N571N|LAMA4_ENST00000522006.1_Silent_p.N571N	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	578	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GGTTACTTAGGTTAGATAGTT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													195	175	182			NA	NA	6		NA											NA				112480017		2203	4300	6503	SO:0001819	synonymous_variant				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769	3910	3910		Laminins	6484	protein-coding gene	gene with protein product		600133			NA	7959779	Standard	NM_001105206	NM_001105206	NA	Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1734C>T	6.37:g.112480017G>A		NA	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	37	CCDS43491.1																																																																																			LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041876.2		-	ENST00000230538.7	Silent	SNP	6 : 112480017 - 112480017 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	392	87
TMEM168	64418	broad.mit.edu	37	7	112423788	112423788	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:112423788G>A	ENST00000312814.6	-	2	1653	c.1093C>T	c.(1093-1095)Ctt>Ttt	p.L365F	TMEM168_ENST00000454074.1_Missense_Mutation_p.L365F	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	NA						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GCTGTTGCAAGAAGACTAAAG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	127	127			NA	NA	7		NA											NA				112423788		2203	4300	6503	SO:0001583	missense				CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802	64418	64418			25826	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_022484	XM_005250527	NA	Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.1093C>T	7.37:g.112423788G>A	ENSP00000323068:p.Leu365Phe	NA	A4D0T9|Q8NEK4|Q9H8J2	37	CCDS5757.1	.	.	.	.	.	.	.	.	.	.	G	9.151	1.016265	0.19355	.	.	ENSG00000146802	ENST00000312814;ENST00000454074;ENST00000418785;ENST00000441474	.	.	.	6.07	5.17	0.71159	.	0.175518	0.51477	D	0.000081	T	0.45418	0.1341	L	0.40543	1.245	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.38308	-0.9667	9	0.37606	T	0.19	-12.9641	7.6742	0.28476	0.0658:0.1217:0.6864:0.1262	.	365	Q9H0V1	TM168_HUMAN	F	365;365;5;17	.	ENSP00000323068:L365F	L	-	1	0	TMEM168	112211024	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.901000	0.28445	1.513000	0.48852	0.655000	0.94253	CTT	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000338696.4		-	ENST00000312814.6	Missense_Mutation	SNP	7 : 112423788 - 112423788 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	692	129
RARRES3	5920	broad.mit.edu	37	11	63312164	63312164	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63312164C>T	ENST00000439013.2	+	3	243	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C	RARRES3_ENST00000354445.2_Missense_Mutation_p.R64C|RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000255688.3_Missense_Mutation_p.R64C			Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	64					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						GAAACGGGAGCGCCTGGAAGA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG	0,3984		0,0,1992	96	107	103		190	0.2	0	11		103	1,8339		0,1,4169	no	missense	RARRES3	NM_004585.3	180	0,1,6161	TT,TC,CC	NA	0.012,0.0,0.0081	possibly-damaging	64/165	63312164	1,12323	1992	4170	6162	SO:0001583	missense				CCDS41662.1	11q23	2008-05-02			ENSG00000133321	ENSG00000133321	5920	5920			9869	protein-coding gene	gene with protein product		605092			NA	9270552	Standard		NM_004585	NA	Approved	TIG3, HRASLS4	uc001nxf.4	Q9UL19	OTTHUMG00000167850	ENST00000439013.2:c.190C>T	11.37:g.63312164C>T	ENSP00000402943:p.Arg64Cys	NA	B2R599|B4DDW2|E7ENZ7|O95200	37		.	.	.	.	.	.	.	.	.	.	C	15.56	2.869850	0.51588	0.0	1.2E-4	ENSG00000133321	ENST00000439013;ENST00000255688;ENST00000354445	T;T;T	0.21543	2.0;2.0;2.0	4.29	0.21	0.15231	NC (1);	1.229820	0.05716	N	0.596757	T	0.21921	0.0528	M	0.62723	1.935	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.37174	-0.9717	10	0.66056	D	0.02	.	4.084	0.09939	0.2822:0.4992:0.137:0.0816	.	64	Q9UL19	TIG3_HUMAN	C	64	ENSP00000402943:R64C;ENSP00000255688:R64C;ENSP00000346431:R64C	ENSP00000255688:R64C	R	+	1	0	RARRES3	63068740	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.061000	0.11693	0.054000	0.16065	0.655000	0.94253	CGC	RARRES3-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000396628.1		+	ENST00000439013.2	Missense_Mutation	SNP	11 : 63312164 - 63312164 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	849	93
SRSF6	6431	broad.mit.edu	37	20	42089579	42089579	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42089579C>T	ENST00000244020.3	+	6	1017	c.911C>T	c.(910-912)cCg>cTg	p.P304L		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	304	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						TCCAATTCGCCGCTACCTGTT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	81	82			NA	NA	20		NA											NA				42089579		2203	4300	6503	SO:0001583	missense			U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193	6431	6431		Serine/arginine-rich splicing factors, RNA binding motif (RRM) containing	10788	protein-coding gene	gene with protein product	pre-mRNA splicing factor SRP55, SR splicing factor 6	601944	splicing factor, arginine/serine-rich 6	SFRS6	NA	7556075, 20516191	Standard	NM_006275	NM_006275	NA	Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.911C>T	20.37:g.42089579C>T	ENSP00000244020:p.Pro304Leu	NA	B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	37	CCDS13318.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.038628	0.35989	.	.	ENSG00000124193	ENST00000244020	T	0.10960	2.82	5.93	5.93	0.95920	.	0.150239	0.64402	D	0.000014	T	0.14570	0.0352	M	0.66939	2.045	0.50813	D	0.999896	P	0.47545	0.897	B	0.35971	0.215	T	0.02668	-1.1126	10	0.39692	T	0.17	.	19.1112	0.93317	0.0:1.0:0.0:0.0	.	304	Q13247	SRSF6_HUMAN	L	304	ENSP00000244020:P304L	ENSP00000244020:P304L	P	+	2	0	SRSF6	41522993	.	.	0.942000	0.38095	0.881000	0.50899	.	.	2.803000	0.96430	0.585000	0.79938	CCG	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079292.1		+	ENST00000244020.3	Missense_Mutation	SNP	20 : 42089579 - 42089579 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	524	104
EDIL3	10085	broad.mit.edu	37	5	83362285	83362285	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:83362285G>A	ENST00000296591.5	-	7	1210	c.792C>T	c.(790-792)ggC>ggT	p.G264G	EDIL3_ENST00000380138.3_Silent_p.G254G|EDIL3_ENST00000510271.1_5'UTR	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	264	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		CTTCATTGGTGCCTTTCACTT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	98	96			NA	NA	5		NA											NA				83362285		2203	4300	6503	SO:0001819	synonymous_variant			U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176	10085	10085			3173	protein-coding gene	gene with protein product		606018			NA	9420328	Standard	NM_005711	NM_005711	NA	Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.792C>T	5.37:g.83362285G>A		NA	B2R763|O43855|Q5D094	37	CCDS4062.1																																																																																			EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239258.1		-	ENST00000296591.5	Silent	SNP	5 : 83362285 - 83362285 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	252	46
IL2RB	3560	broad.mit.edu	37	22	37531435	37531435	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37531435G>A	ENST00000216223.5	-	8	949	c.751C>T	c.(751-753)Ctc>Ttc	p.L251F		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	251					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GCCCCGCTGAGGCCCACGAGG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	107	108			NA	NA	22		NA											NA				37531435		2203	4300	6503	SO:0001583	missense			M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385	NA	3560		Interleukins and interleukin receptors, CD molecules	6009	protein-coding gene	gene with protein product		146710	interleukin 15 receptor, beta	IL15RB	NA		Standard		NM_000878	NA	Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.751C>T	22.37:g.37531435G>A	ENSP00000216223:p.Leu251Phe	NA	B2R765	37	CCDS13942.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.05|14.05	2.420112|2.420112	0.42918|0.42918	.|.	.|.	ENSG00000100385|ENSG00000100385	ENST00000216223|ENST00000447922	D|.	0.97303|.	-4.33|.	3.75|3.75	-1.56|-1.56	0.08532|0.08532	.|.	2.483920|.	0.01435|.	N|.	0.014867|.	T|T	0.33352|0.33352	0.0860|0.0860	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	D|.	0.55385|.	0.971|.	P|.	0.55055|.	0.767|.	T|T	0.32640|0.32640	-0.9899|-0.9899	10|5	0.87932|.	D|.	0|.	-11.4288|-11.4288	1.9921|1.9921	0.03448|0.03448	0.1071:0.1639:0.3579:0.3712|0.1071:0.1639:0.3579:0.3712	.|.	251|.	P14784|.	IL2RB_HUMAN|.	F|L	251|5	ENSP00000216223:L251F|.	ENSP00000216223:L251F|.	L|P	-|-	1|2	0|0	IL2RB|IL2RB	35861381|35861381	0.000000|0.000000	0.05858|0.05858	0.023000|0.023000	0.16930|0.16930	0.003000|0.003000	0.03518|0.03518	-0.235000|-0.235000	0.09016|0.09016	-0.275000|-0.275000	0.09219|0.09219	-0.311000|-0.311000	0.09066|0.09066	CTC|CCT	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318792.1		-	ENST00000216223.5	Missense_Mutation	SNP	22 : 37531435 - 37531435 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	690	59
IFNL3	282617	broad.mit.edu	37	19	39734508	39734508	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39734508G>A	ENST00000413851.2	-	4	486	c.448C>T	c.(448-450)Cgc>Tgc	p.R150C		NM_172139.2	NP_742151.2			interferon, lambda 3	NA											NA						TGGTGGAGGCGGCCCCGGGTC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	31	28			NA	NA	19		NA											NA				39734508		2194	4276	6470	SO:0001583	missense			AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110	282617	282617		Interferons	18365	protein-coding gene	gene with protein product		607402	interleukin 28B, interleukin 28B (interferon, lambda 3)	IL28B	NA		Standard	NM_172139	NM_172139	NA	Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.448C>T	19.37:g.39734508G>A	ENSP00000409000:p.Arg150Cys	NA		37	CCDS12530.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264525	0.39995	.	.	ENSG00000197110	ENST00000413851	T	0.38240	1.15	3.95	1.67	0.24075	.	0.249527	0.31312	N	0.007864	T	0.36358	0.0964	M	0.85542	2.76	0.32477	N	0.542058	D	0.54047	0.964	B	0.40285	0.325	T	0.54964	-0.8214	10	0.87932	D	0	-16.3203	5.0916	0.14711	0.3115:0.0:0.6885:0.0	.	150	Q8IZI9	IL28B_HUMAN	C	150	ENSP00000409000:R150C	ENSP00000409000:R150C	R	-	1	0	IL28B	44426348	0.321000	0.24625	0.541000	0.28102	0.236000	0.25371	1.241000	0.32743	0.705000	0.31890	0.205000	0.17691	CGC	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463832.1		-	ENST00000413851.2	Missense_Mutation	SNP	19 : 39734508 - 39734508 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	749	110
PRSS53	339105	broad.mit.edu	37	16	31096484	31096484	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31096484G>A	ENST00000280606.6	-	7	1134	c.981C>T	c.(979-981)ggC>ggT	p.G327G		NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	327	Peptidase S1 2.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)|lung(3)	4						CCAGGGCTCCGCCACAGGCCA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	27	26			NA	NA	16		NA											NA				31096484		2076	4214	6290	SO:0001819	synonymous_variant				CCDS42153.1	16p11.2	2010-05-07			ENSG00000151006	ENSG00000151006	339105	339105		Serine peptidases / Serine peptidases	34407	protein-coding gene	gene with protein product	polyserase 3	610561			NA	16566820	Standard	NM_001081268	NM_001039503	NA	Approved	POL3S	uc002eaq.3	Q2L4Q9	OTTHUMG00000047358	ENST00000280606.6:c.981C>T	16.37:g.31096484G>A		NA		37	CCDS42153.1																																																																																			PRSS53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000108580.4		-	ENST00000280606.6	Silent	SNP	16 : 31096484 - 31096484 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	108	23
TRIM68	55128	broad.mit.edu	37	11	4626372	4626372	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4626372G>A	ENST00000300747.5	-	2	652	c.363C>T	c.(361-363)agC>agT	p.S121S		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	121					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTGGGGACTGGCTGCAGGCCT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	100	106			NA	NA	11		NA											NA				4626372		2201	4298	6499	SO:0001819	synonymous_variant			AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333	55128	55128		RING-type (C3HC4) zinc fingers, Tripartite motif containing / Tripartite motif containing	21161	protein-coding gene	gene with protein product		613184	ring finger protein 137, tripartite motif-containing 68	RNF137	NA	11597395	Standard	NM_018073	NM_018073	NA	Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.363C>T	11.37:g.4626372G>A		NA	A6NI19|A8K551|B3KPM5|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	37	CCDS31356.1																																																																																			TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385948.1		-	ENST00000300747.5	Silent	SNP	11 : 4626372 - 4626372 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	454	30
NTRK2	4915	broad.mit.edu	37	9	87482309	87482309	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:87482309C>T	ENST00000304053.6	+	14	2079	c.1596C>T	c.(1594-1596)taC>taT	p.Y532Y	NTRK2_ENST00000376214.1_Silent_p.Y532Y|NTRK2_ENST00000323115.4_Silent_p.Y516Y|NTRK2_ENST00000376208.1_Silent_p.Y516Y|NTRK2_ENST00000376213.1_Silent_p.Y516Y|NTRK2_ENST00000277120.3_Silent_p.Y532Y	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	516					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						ATCCCCAGTACTTTGGCATCA	0.448		NA								TSP Lung(25;0.17)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													213	180	191			NA	NA	9		NA											NA				87482309		2203	4300	6503	SO:0001819	synonymous_variant			AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	4915	4915	2.7.10.1	Immunoglobulin superfamily / I-set domain containing	8032	protein-coding gene	gene with protein product		600456			NA	7789988	Standard		NM_001018065	NA	Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000304053.6:c.1596C>T	9.37:g.87482309C>T		NA	B1ANZ4|Q16675|Q8WXJ6	37	CCDS35051.1																																																																																			NTRK2-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052884.1		+	ENST00000304053.6	Silent	SNP	9 : 87482309 - 87482309 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	961	151
MAGI2	9863	broad.mit.edu	37	7	77885770	77885770	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77885770G>A	ENST00000354212.4	-	10	1790	c.1537C>T	c.(1537-1539)Ccc>Tcc	p.P513S	MAGI2_ENST00000419488.1_Missense_Mutation_p.P513S|MAGI2_ENST00000536571.1_Missense_Mutation_p.P345S|MAGI2_ENST00000522391.1_Missense_Mutation_p.P513S|MAGI2_ENST00000535697.1_Missense_Mutation_p.P350S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	513						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGATCAAAGGGCAAAGGGTAG	0.488		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	7		NA											NA				77885770		2203	4300	6503	SO:0001583	missense			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391	9863	9863			18957	protein-coding gene	gene with protein product		606382			NA	10681527, 9734811	Standard	NM_012301	XM_005250725	NA	Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1537C>T	7.37:g.77885770G>A	ENSP00000346151:p.Pro513Ser	NA	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	37	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082237	0.76528	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.93	5.05	0.67936	PDZ/DHR/GLGF (1);	0.000000	0.36482	U	0.002563	T	0.68210	0.2976	M	0.82193	2.58	0.80722	D	1	D;P;D;D;D;D	0.89917	1.0;0.797;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.959;0.998;0.998;1.0;0.998	T	0.74708	-0.3574	10	0.87932	D	0	.	16.3924	0.83544	0.0:0.1314:0.8686:0.0	.	350;345;513;513;513;513	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	S	513;513;513;513;345;350	ENSP00000405766:P513S;ENSP00000346151:P513S;ENSP00000428389:P513S;ENSP00000441584:P345S;ENSP00000441603:P350S	ENSP00000346151:P513S	P	-	1	0	MAGI2	77723706	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.012000	0.88631	1.508000	0.48769	0.555000	0.69702	CCC	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253197.3		-	ENST00000354212.4	Missense_Mutation	SNP	7 : 77885770 - 77885770 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	175	27
FBXW10	10517	broad.mit.edu	37	17	18653271	18653271	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18653271C>T	ENST00000308799.4	+	3	1126	c.907C>T	c.(907-909)Ctc>Ttc	p.L303F	FBXW10_ENST00000395667.1_Intron|FBXW10_ENST00000395665.4_Intron|FBXW10_ENST00000301938.4_Intron			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	293	F-box.									NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TCCCAGACACCTCCCCTCTTG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	43	44			NA	NA	17		NA											NA				18653271		2203	4297	6500	SO:0001583	missense			BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931	10517	10517		F-boxes / WD-40 domains, WD repeat domain containing	1211	protein-coding gene	gene with protein product		611679	chromosome 17 open reading frame 1A, F-box and WD-40 domain protein 10	C17orf1, C17orf1A	NA	9787083, 7586531	Standard	NM_031456	NM_001267585	NA	Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000308799.4:c.907C>T	17.37:g.18653271C>T	ENSP00000310382:p.Leu303Phe	NA	C9JRY8|C9JZD7|Q8TC00|Q9H0F0	37		.	.	.	.	.	.	.	.	.	.	C	8.396	0.840869	0.16891	.	.	ENSG00000171931	ENST00000308799	T	0.61742	0.08	2.49	0.294	0.15747	.	1.886630	0.04784	U	0.430403	T	0.45276	0.1334	.	.	.	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.38351	-0.9665	9	0.87932	D	0	.	4.4146	0.11450	0.0:0.6185:0.0:0.3815	.	303	Q5XX13-2	.	F	303	ENSP00000310382:L303F	ENSP00000310382:L303F	L	+	1	0	FBXW10	18593996	0.000000	0.05858	0.001000	0.08648	0.237000	0.25408	-0.160000	0.10041	-0.031000	0.13781	0.405000	0.27470	CTC	FBXW10-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000130663.1		+	ENST00000308799.4	Missense_Mutation	SNP	17 : 18653271 - 18653271 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	755	34
ANK3	288	broad.mit.edu	37	10	61848065	61848065	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61848065G>A	ENST00000280772.2	-	29	3571	c.3380C>T	c.(3379-3381)aCg>aTg	p.T1127M	ANK3_ENST00000373827.2_Missense_Mutation_p.T1121M|ANK3_ENST00000503366.1_Missense_Mutation_p.T1128M|ANK3_ENST00000355288.2_Missense_Mutation_p.T261M	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	NA					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAAATCTTTCGTGATAATCCT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	109	109			NA	NA	10		NA											NA				61848065		2203	4300	6503	SO:0001583	missense			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150	288	288		Ankyrin repeat domain containing	494	protein-coding gene	gene with protein product	ankyrin-3, node of Ranvier, ankyrin-G	600465			NA	7665168	Standard	NM_020987	NM_020987	NA	Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3380C>T	10.37:g.61848065G>A	ENSP00000280772:p.Thr1127Met	NA	Q5VXD5	37	CCDS7258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.218208|5.218208	0.95104|0.95104	.|.	.|.	ENSG00000151150|ENSG00000151150	ENST00000467420|ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348	.|T;T;T;T	.|0.74632	.|-0.5;-0.86;-0.86;-0.86	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.000000	.|0.43416	.|D	.|0.000572	.|D	.|0.89770	.|0.6811	M|M	0.89785|0.89785	3.06|3.06	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D	.|0.90263	.|0.4302	.|10	.|0.87932	.|D	.|0	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1128;261;660;1121;1127;362;261	.|E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2	.|.;.;.;.;ANK3_HUMAN;.;.	X|M	185|1127;1121;261;261;1128;1107;362;762;762;260;660	.|ENSP00000280772:T1127M;ENSP00000362933:T1121M;ENSP00000347436:T261M;ENSP00000425236:T1128M	.|ENSP00000280772:T1127M	R|T	-|-	1|2	2|0	ANK3|ANK3	61518071|61518071	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.987000|0.987000	0.75469|0.75469	9.448000|9.448000	0.97600|0.97600	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CGA|ACG	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048201.4		-	ENST00000280772.2	Missense_Mutation	SNP	10 : 61848065 - 61848065 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	540	93
CHGA	1113	broad.mit.edu	37	14	93399081	93399081	+	Missense_Mutation	SNP	G	G	A	rs9658669		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93399081G>A	ENST00000334654.4	+	6	906	c.722G>A	c.(721-723)cGa>cAa	p.R241Q	CHGA_ENST00000216492.5_Missense_Mutation_p.R392Q			P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	392					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		CAGCTGCGACGAGGCTGGAGG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)							NA				0								G	GLN/ARG	1,4379		0,1,2189	12	14	13		1175	2.9	0.1	14	dbSNP_119	13	2,8550		0,2,4274	no	missense	CHGA	NM_001275.3	43	0,3,6463	AA,AG,GG	NA	0.0234,0.0228,0.0232	benign	392/458	93399081	3,12929	2190	4276	6466	SO:0001583	missense				CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604	1113	1113			1929	protein-coding gene	gene with protein product	vasostatin, pancreastatin, parastatin	118910			NA	3403545	Standard	NM_001275	NM_001275	NA	Approved		uc001ybc.4	P10645		ENST00000334654.4:c.722G>A	14.37:g.93399081G>A	ENSP00000334023:p.Arg241Gln	NA	B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	37		.	.	.	.	.	.	.	.	.	.	G	8.792	0.930877	0.18131	2.28E-4	2.34E-4	ENSG00000100604	ENST00000216492;ENST00000334654	T;T	0.02197	4.4;4.4	4.71	2.86	0.33363	.	0.400442	0.21601	N	0.071941	T	0.02119	0.0066	L	0.48642	1.525	0.09310	N	1	P;B	0.39352	0.669;0.419	B;B	0.29440	0.053;0.102	T	0.48681	-0.9014	10	0.32370	T	0.25	-1.3963	8.8796	0.35367	0.3464:0.0:0.6536:0.0	rs9658669	241;392	G5E968;P10645	.;CMGA_HUMAN	Q	392;241	ENSP00000216492:R392Q;ENSP00000334023:R241Q	ENSP00000216492:R392Q	R	+	2	0	CHGA	92468834	0.991000	0.36638	0.139000	0.22197	0.339000	0.28857	3.094000	0.50227	0.092000	0.17331	-1.164000	0.01763	CGA	CHGA-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000412414.1		+	ENST00000334654.4	Missense_Mutation	SNP	14 : 93399081 - 93399081 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	108	24
FUT6	2528	broad.mit.edu	37	19	5832292	5832292	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5832292C>T	ENST00000318336.4	-	3	1481	c.287G>A	c.(286-288)cGc>cAc	p.R96H	FUT6_ENST00000592563.1_Missense_Mutation_p.R96H|FUT6_ENST00000286955.5_Missense_Mutation_p.R96H|FUT6_ENST00000527106.1_Missense_Mutation_p.R96H|FUT6_ENST00000524754.1_Missense_Mutation_p.R96H	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	96					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						ATACACCTTGCGGTCGGCAGT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	74	67	69		287,287	3.1	0.4	19		69	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense	FUT6	NM_000150.2,NM_001040701.1	29,29	0,3,6500	TT,TC,CC	NA	0.0349,0.0,0.0231	probably-damaging,probably-damaging	96/360,96/360	5832292	3,13003	2203	4300	6503	SO:0001583	missense				CCDS12152.1	19p13.3	2013-02-26			ENSG00000156413	ENSG00000156413	2528	2528	2.4.1.65	Fucosyltransferases	4017	protein-coding gene	gene with protein product	alpha-(1,3)-fucosyltransferase, galactoside 3-L-fucosyltransferase	136836			NA	1520296, 7782074	Standard	NM_000150	NM_001040701	NA	Approved	FT1A, FCT3A, FucT-VI, FLJ40754	uc002mdh.1	P51993	OTTHUMG00000167335	ENST00000318336.4:c.287G>A	19.37:g.5832292C>T	ENSP00000313398:p.Arg96His	NA	A6NEX0|D6W637|Q9UND8	37	CCDS12152.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333141	0.60853	0.0	3.49E-4	ENSG00000156413	ENST00000524754;ENST00000527106;ENST00000318336;ENST00000286955;ENST00000341530;ENST00000529165	T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24	3.09	3.09	0.35607	.	0.103025	0.39083	N	0.001471	T	0.52741	0.1753	M	0.83483	2.645	0.30186	N	0.799964	P;P	0.48350	0.909;0.574	P;P	0.52758	0.708;0.513	T	0.60939	-0.7163	10	0.87932	D	0	.	12.3817	0.55311	0.0:1.0:0.0:0.0	.	96;96	C9J8A2;P51993	.;FUT6_HUMAN	H	96	ENSP00000431708:R96H;ENSP00000432954:R96H;ENSP00000313398:R96H;ENSP00000286955:R96H;ENSP00000436547:R96H	ENSP00000286955:R96H	R	-	2	0	FUT6	5783292	0.001000	0.12720	0.376000	0.26042	0.020000	0.10135	-0.043000	0.12043	1.666000	0.50821	0.436000	0.28706	CGC	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394218.2		-	ENST00000318336.4	Missense_Mutation	SNP	19 : 5832292 - 5832292 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	347	100
LRIF1	55791	broad.mit.edu	37	1	111490729	111490729	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111490729T>C	ENST00000369763.4	-	4	2552	c.2162A>G	c.(2161-2163)aAt>aGt	p.N721S	LRIF1_ENST00000485275.2_Missense_Mutation_p.N185S|LRIF1_ENST00000494675.1_Missense_Mutation_p.N185S|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	721					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						ATAATTTTTATTGAAGAAATG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	127	126			NA	NA	1		NA											NA				111490729		2203	4300	6503	SO:0001583	missense			AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931	55791	55791			30299	protein-coding gene	gene with protein product	receptor interacting factor 1	615354	chromosome 1 open reading frame 103	C1orf103	NA	17455211	Standard	NM_018372	NM_018372	NA	Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.2162A>G	1.37:g.111490729T>C	ENSP00000358778:p.Asn721Ser	NA	Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	37	CCDS30800.1	.	.	.	.	.	.	.	.	.	.	T	10.39	1.336498	0.24253	.	.	ENSG00000121931	ENST00000369763;ENST00000494675;ENST00000485275	T;T;T	0.29397	1.97;1.57;1.57	5.71	-2.67	0.06059	.	0.857247	0.10376	N	0.682157	T	0.06781	0.0173	L	0.38531	1.155	0.09310	N	0.999991	B;B	0.13145	0.007;0.004	B;B	0.14578	0.011;0.004	T	0.40961	-0.9535	10	0.21014	T	0.42	-1.4343	6.857	0.24046	0.0:0.5097:0.1641:0.3262	.	185;721	Q5T3J3-2;Q5T3J3	.;LRIF1_HUMAN	S	721;185;185	ENSP00000358778:N721S;ENSP00000435259:N185S;ENSP00000432290:N185S	ENSP00000358778:N721S	N	-	2	0	LRIF1	111292252	0.025000	0.19082	0.872000	0.34217	0.864000	0.49448	-0.193000	0.09573	-0.391000	0.07763	0.482000	0.46254	AAT	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032932.2		-	ENST00000369763.4	Missense_Mutation	SNP	1 : 111490729 - 111490729 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	674	72
LRRC7	57554	broad.mit.edu	37	1	70504112	70504112	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70504112A>G	ENST00000310961.5	+	22	2924	c.2506A>G	c.(2506-2508)Aca>Gca	p.T836A	LRRC7_ENST00000035383.5_Missense_Mutation_p.T831A|LRRC7_ENST00000415775.2_Missense_Mutation_p.T115A			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	831						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACACAGACACACACCAGAAAC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	78	77			NA	NA	1		NA											NA				70504112		2203	4300	6503	SO:0001583	missense				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122	57554	57554			18531	protein-coding gene	gene with protein product		614453			NA	12525888	Standard	NM_020794	NM_020794	NA	Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000310961.5:c.2506A>G	1.37:g.70504112A>G	ENSP00000309245:p.Thr836Ala	NA	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	37		.	.	.	.	.	.	.	.	.	.	A	11.75	1.732561	0.30684	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.38077	1.16;1.24;2.33	5.53	4.34	0.51931	.	0.180173	0.50627	D	0.000103	T	0.14056	0.0340	L	0.40543	1.245	0.35902	D	0.830459	B;B;B	0.17465	0.007;0.005;0.022	B;B;B	0.19148	0.018;0.011;0.024	T	0.06770	-1.0808	10	0.44086	T	0.13	.	7.076	0.25205	0.7017:0.1522:0.0:0.1461	.	115;831;831	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	A	836;831;115;654	ENSP00000309245:T836A;ENSP00000035383:T831A;ENSP00000394867:T115A	ENSP00000035383:T831A	T	+	1	0	LRRC7	70276700	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.430000	0.52807	2.113000	0.64589	0.383000	0.25322	ACA	LRRC7-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000131262.2		+	ENST00000310961.5	Missense_Mutation	SNP	1 : 70504112 - 70504112 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	276	34
HAAO	23498	broad.mit.edu	37	2	43015685	43015685	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43015685A>T	ENST00000294973.6	-	2	198	c.143T>A	c.(142-144)aTc>aAc	p.I48N		NM_012205.2	NP_036337.2	P46952	3HAO_HUMAN	3-hydroxyanthranilate 3,4-dioxygenase	48	Domain A (catalytic) (By similarity).				neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process	cytosol|soluble fraction	3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding			breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						ACCCTCTTCGATGTGATAGTC	0.597		NA											A	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	3e-04	SNP								NA				0													252	179	203			NA	NA	2		NA											NA				43015685		2203	4300	6503	SO:0001583	missense			Z29481	CCDS33187.1	2p	2008-02-05			ENSG00000162882	ENSG00000162882	23498	23498	1.13.11.6		4796	protein-coding gene	gene with protein product		604521			NA	7514594	Standard		NM_012205	NA	Approved		uc002rst.4	P46952	OTTHUMG00000152348	ENST00000294973.6:c.143T>A	2.37:g.43015685A>T	ENSP00000294973:p.Ile48Asn	NA	A6NE56|B4DIN2|Q53QZ7|Q8N6N9	37	CCDS33187.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	21.6	4.174278	0.78452	.	.	ENSG00000162882	ENST00000294973;ENST00000431905	T;T	0.33654	1.4;1.4	5.44	5.44	0.79542	Cupin, RmlC-type (1);	0.068157	0.56097	D	0.000034	T	0.66406	0.2786	M	0.90650	3.135	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.74216	-0.3737	10	0.87932	D	0	.	13.4538	0.61187	1.0:0.0:0.0:0.0	.	48	P46952	3HAO_HUMAN	N	48;14	ENSP00000294973:I48N;ENSP00000412601:I14N	ENSP00000294973:I48N	I	-	2	0	HAAO	42869189	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.083000	0.76859	2.065000	0.61736	0.533000	0.62120	ATC	HAAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325948.2		-	ENST00000294973.6	Missense_Mutation	SNP	2 : 43015685 - 43015685 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	439	13
E2F5	1875	broad.mit.edu	37	8	86121509	86121509	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86121509A>G	ENST00000418930.2	+	6	944	c.748A>G	c.(748-750)Aca>Gca	p.T250A	E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000416274.2_Missense_Mutation_p.T250A|E2F5_ENST00000521429.1_Missense_Mutation_p.T77A|E2F5_ENST00000256117.5_Missense_Mutation_p.T251A|E2F5_ENST00000517476.1_Missense_Mutation_p.T89A			Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	250					G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						TGATGACCTCACACAGCCTTC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	112	112			NA	NA	8		NA											NA				86121509		2007	4185	6192	SO:0001583	missense			X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740	1875	1875			3119	protein-coding gene	gene with protein product		600967			NA	7892279	Standard	NM_001951	NM_001083588	NA	Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000418930.2:c.748A>G	8.37:g.86121509A>G	ENSP00000414312:p.Thr250Ala	NA	Q16601|Q92756	37	CCDS47886.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.274|4.274	0.050017|0.050017	0.08243|0.08243	.|.	.|.	ENSG00000133740|ENSG00000133740	ENST00000520225|ENST00000418930;ENST00000256117;ENST00000416274;ENST00000517476;ENST00000521429;ENST00000518234	.|D;D;D;D;D;D	.|0.86562	.|-2.14;-2.14;-2.14;-2.14;-2.14;-2.14	6.13|6.13	4.98|4.98	0.66077|0.66077	.|.	.|0.486351	.|0.24282	.|N	.|0.039882	T|T	0.73923|0.73923	0.3649|0.3649	N|N	0.20986|0.20986	0.625|0.625	0.33317|0.33317	D|D	0.566848|0.566848	.|B;B;B	.|0.06786	.|0.001;0.001;0.0	.|B;B;B	.|0.10450	.|0.001;0.005;0.002	T|T	0.66232|0.66232	-0.5975|-0.5975	5|10	.|0.08179	.|T	.|0.78	-13.1823|-13.1823	6.1664|6.1664	0.20392|0.20392	0.715:0.138:0.147:0.0|0.715:0.138:0.147:0.0	.|.	.|77;250;250	.|E5RHD4;Q15329-2;Q15329	.|.;.;E2F5_HUMAN	R|A	21|250;251;250;89;77;86	.|ENSP00000414312:T250A;ENSP00000256117:T251A;ENSP00000398124:T250A;ENSP00000429120:T89A;ENSP00000428606:T77A;ENSP00000429669:T86A	.|ENSP00000256117:T251A	H|T	+|+	2|1	0|0	E2F5|E2F5	86308761|86308761	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	2.170000|2.170000	0.42443|0.42443	1.155000|1.155000	0.42497|0.42497	0.529000|0.529000	0.55759|0.55759	CAC|ACA	E2F5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380273.1		+	ENST00000418930.2	Missense_Mutation	SNP	8 : 86121509 - 86121509 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	261	38
MMP17	4326	broad.mit.edu	37	12	132334409	132334409	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132334409G>A	ENST00000360564.1	+	9	1369	c.1267G>A	c.(1267-1269)Gac>Aac	p.D423N	MMP17_ENST00000535291.1_Missense_Mutation_p.D339N|MMP17_ENST00000535004.1_Intron	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	423	Hemopexin-like 2.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CCCCGTCTCCGACTTCAGCCT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	104	103			NA	NA	12		NA											NA				132334409		2203	4300	6503	SO:0001583	missense			X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598	4326	4326			7163	protein-coding gene	gene with protein product		602285	matrix metalloproteinase 17 (membrane-inserted)		NA	9878265	Standard	NM_016155	NM_016155	NA	Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.1267G>A	12.37:g.132334409G>A	ENSP00000353767:p.Asp423Asn	NA	Q14850	37	CCDS31927.1	.	.	.	.	.	.	.	.	.	.	G	31	5.093522	0.94149	.	.	ENSG00000198598	ENST00000360564;ENST00000535291;ENST00000534865;ENST00000542648	T;T;T;T	0.02763	4.17;4.17;4.17;4.17	4.48	4.48	0.54585	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.07503	0.0189	L	0.58583	1.82	0.80722	D	1	D	0.56746	0.977	P	0.48552	0.581	T	0.13442	-1.0509	10	0.66056	D	0.02	.	17.1756	0.86841	0.0:0.0:1.0:0.0	.	423	Q9ULZ9	MMP17_HUMAN	N	423;339;264;53	ENSP00000353767:D423N;ENSP00000441106:D339N;ENSP00000442104:D264N;ENSP00000439542:D53N	ENSP00000353767:D423N	D	+	1	0	MMP17	130900362	1.000000	0.71417	0.965000	0.40720	0.822000	0.46500	9.750000	0.98875	2.054000	0.61138	0.471000	0.43371	GAC	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397757.1		+	ENST00000360564.1	Missense_Mutation	SNP	12 : 132334409 - 132334409 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	957	184
ZNF770	54989	broad.mit.edu	37	15	35275070	35275070	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:35275070T>G	ENST00000356321.4	-	3	910	c.566A>C	c.(565-567)aAa>aCa	p.K189T		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		CAAGACACATTTAAAAGGCCT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	60	61			NA	NA	15		NA											NA				35275070		2201	4298	6499	SO:0001583	missense			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146	54989	54989		Zinc fingers, C2H2-type	26061	protein-coding gene	gene with protein product					NA		Standard	NM_014106	NM_014106	NA	Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.566A>C	15.37:g.35275070T>G	ENSP00000348673:p.Lys189Thr	NA	Q6ZMZ6|Q9NWV2	37	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	T	11.82	1.751978	0.31046	.	.	ENSG00000198146	ENST00000356321	T	0.18810	2.19	5.28	4.13	0.48395	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.312282	0.25833	N	0.028016	T	0.26666	0.0652	L	0.39633	1.23	0.30520	N	0.768574	P	0.44776	0.843	P	0.51866	0.682	T	0.07102	-1.0790	10	0.34782	T	0.22	-6.6884	11.1873	0.48664	0.0:0.0:0.2942:0.7058	.	189	Q6IQ21	ZN770_HUMAN	T	189	ENSP00000348673:K189T	ENSP00000348673:K189T	K	-	2	0	ZNF770	33062362	0.430000	0.25538	1.000000	0.80357	0.994000	0.84299	0.305000	0.19254	0.986000	0.38683	0.533000	0.62120	AAA	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251896.2		-	ENST00000356321.4	Missense_Mutation	SNP	15 : 35275070 - 35275070 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	224	39
SLC38A7	55238	broad.mit.edu	37	16	58713944	58713944	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58713944G>A	ENST00000564100.1	-	2	954	c.87C>T	c.(85-87)ccC>ccT	p.P29P	SLC38A7_ENST00000564391.1_Silent_p.P29P|SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000570101.1_Silent_p.P29P|SLC38A7_ENST00000564010.1_Intron|SLC38A7_ENST00000219320.4_Silent_p.P29P			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	29					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						TGTCCACACAGGGACTCTGCA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	31	32			NA	NA	16		NA											NA				58713944		2198	4300	6498	SO:0001819	synonymous_variant			BC001961	CCDS10800.1	16q21	2013-05-22			ENSG00000103042	ENSG00000103042	55238	55238		Solute carriers	25582	protein-coding gene	gene with protein product		614236			NA		Standard	NM_018231	XM_006721229	NA	Approved	FLJ10815	uc002eod.1	Q9NVC3	OTTHUMG00000133491	ENST00000564100.1:c.87C>T	16.37:g.58713944G>A		NA	Q53GJ9|Q9H9I5	37																																																																																				SLC38A7-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000422205.1		-	ENST00000564100.1	Silent	SNP	16 : 58713944 - 58713944 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	171	27
BTBD11	121551	broad.mit.edu	37	12	107914310	107914310	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107914310G>T	ENST00000280758.5	+	2	1710	c.1182G>T	c.(1180-1182)caG>caT	p.Q394H	BTBD11_ENST00000420571.2_Missense_Mutation_p.Q394H|BTBD11_ENST00000490090.2_Missense_Mutation_p.Q394H	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	394						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GAGACCCACAGCGGTCAAACA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	112	115			NA	NA	12		NA											NA				107914310		2203	4300	6503	SO:0001583	missense			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136	121551	121551		BTB/POZ domain containing, Ankyrin repeat domain containing	23844	protein-coding gene	gene with protein product					NA		Standard	NM_152322	XM_005268645	NA	Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1182G>T	12.37:g.107914310G>T	ENSP00000280758:p.Gln394His	NA	A4FU41|C9J019|C9JK80|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	37	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.519401	0.44866	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000415943	T;T;T;T	0.48201	1.25;1.32;1.29;0.82	4.1	2.22	0.28083	Histone-fold (1);	0.259153	0.33040	N	0.005353	T	0.52141	0.1716	L	0.38175	1.15	0.80722	D	1	D;D;D	0.64830	0.994;0.99;0.991	D;D;P	0.78314	0.991;0.979;0.793	T	0.49263	-0.8958	10	0.49607	T	0.09	.	7.2142	0.25951	0.3458:0.0:0.6542:0.0	.	394;394;394	A6QL63-2;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	H	394;394;394;28	ENSP00000280758:Q394H;ENSP00000413889:Q394H;ENSP00000447319:Q394H;ENSP00000407416:Q28H	ENSP00000280758:Q394H	Q	+	3	2	BTBD11	106438440	1.000000	0.71417	0.964000	0.40570	0.979000	0.70002	1.748000	0.38308	1.013000	0.39391	0.655000	0.94253	CAG	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318003.1		+	ENST00000280758.5	Missense_Mutation	SNP	12 : 107914310 - 107914310 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	614	122
BRD3	8019	broad.mit.edu	37	9	136901300	136901300	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136901300T>C	ENST00000303407.7	-	10	1975	c.1790A>G	c.(1789-1791)cAc>cGc	p.H597R	BRD3_ENST00000473349.1_5'UTR|BRD3_ENST00000371834.2_3'UTR	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	597						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		TTGGATGATGTGCACTACCCG	0.587		NA	T	C15orf55	lethal midline carcinoma of young people									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		9	9q34	8019	bromodomain containing 3		E	0													80	77	78			NA	NA	9		NA											NA				136901300		2203	4300	6503	SO:0001583	missense				CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925	8019	8019			1104	protein-coding gene	gene with protein product	RING3-like	601541	bromodomain-containing 3		NA	7584044, 8781126	Standard	NM_007371	NM_007371	NA	Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.1790A>G	9.37:g.136901300T>C	ENSP00000305918:p.His597Arg	NA	B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	37	CCDS6980.1	.	.	.	.	.	.	.	.	.	.	T	19.15	3.771699	0.69992	.	.	ENSG00000169925	ENST00000303407;ENST00000540795	T	0.15372	2.43	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000001	T	0.21921	0.0528	L	0.59967	1.855	0.80722	D	1	B	0.25441	0.126	B	0.31101	0.124	T	0.02398	-1.1165	10	0.46703	T	0.11	-18.4594	14.1802	0.65568	0.0:0.0:0.0:1.0	.	597	Q15059	BRD3_HUMAN	R	597;276	ENSP00000305918:H597R	ENSP00000305918:H597R	H	-	2	0	BRD3	135891121	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	6.055000	0.71103	1.946000	0.56461	0.402000	0.26972	CAC	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055390.4		-	ENST00000303407.7	Missense_Mutation	SNP	9 : 136901300 - 136901300 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	467	78
PRKD2	25865	broad.mit.edu	37	19	47178333	47178333	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47178333T>G	ENST00000291281.4	-	17	2606	c.2381A>C	c.(2380-2382)aAa>aCa	p.K794T	PRKD2_ENST00000595515.1_Missense_Mutation_p.K804T|PRKD2_ENST00000433867.1_Missense_Mutation_p.K794T|PRKD2_ENST00000600194.1_Missense_Mutation_p.K637T|DACT3-AS1_ENST00000525008.1_RNA|PRKD2_ENST00000601806.1_Missense_Mutation_p.K637T			Q9BZL6	KPCD2_HUMAN	protein kinase D2	794	Protein kinase.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GCTGTAGCGTTTGCGCATCTT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	66	77			NA	NA	19		NA											NA				47178333		2203	4300	6503	SO:0001583	missense			AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287	25865	25865		Pleckstrin homology (PH) domain containing	17293	protein-coding gene	gene with protein product		607074			NA	11042152, 11062248	Standard	NM_016457	NM_001079880	NA	Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.2381A>C	19.37:g.47178333T>G	ENSP00000291281:p.Lys794Thr	NA	Q8TB08|Q9P0T6|Q9Y3X8	37	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	T	32	5.184267	0.94885	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.68479	-0.33;-0.33	5.39	5.39	0.77823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.76414	0.3984	L	0.53780	1.695	0.80722	D	1	D;P;D	0.55800	0.973;0.645;0.965	P;B;P	0.62014	0.837;0.271;0.897	T	0.78994	-0.1984	10	0.87932	D	0	-45.8839	14.6862	0.69052	0.0:0.0:0.0:1.0	.	804;279;794	E7ER94;A0JLT6;Q9BZL6	.;.;KPCD2_HUMAN	T	794	ENSP00000291281:K794T;ENSP00000393978:K794T	ENSP00000291281:K794T	K	-	2	0	PRKD2	51870173	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.982000	0.88131	2.169000	0.68431	0.533000	0.62120	AAA	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466591.1		-	ENST00000291281.4	Missense_Mutation	SNP	19 : 47178333 - 47178333 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	95	11
FBN1	2200	broad.mit.edu	37	15	48779598	48779598	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48779598C>T	ENST00000316623.5	-	28	3829	c.3374G>A	c.(3373-3375)cGa>cAa	p.R1125Q		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1125	EGF-like 17; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AACACCACCTCGGCATAGGAG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	145	147			NA	NA	15		NA											NA				48779598		2198	4296	6494	SO:0001583	missense			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147	2200	2200			3603	protein-coding gene	gene with protein product	Marfan syndrome	134797	fibrillin 1 (Marfan syndrome)	FBN, MFS1, WMS	NA	10036187, 12525539	Standard		NM_000138	NA	Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3374G>A	15.37:g.48779598C>T	ENSP00000325527:p.Arg1125Gln	NA	B2RUU0|Q15972|Q75N87	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.695941	0.68386	.	.	ENSG00000166147	ENST00000316623	D	0.91894	-2.93	5.6	5.6	0.85130	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.86855	0.6033	N	0.11870	0.19	0.80722	D	1	P	0.47604	0.898	B	0.43251	0.413	D	0.88137	0.2842	10	0.46703	T	0.11	.	19.2077	0.93739	0.0:1.0:0.0:0.0	.	1125	P35555	FBN1_HUMAN	Q	1125	ENSP00000325527:R1125Q	ENSP00000325527:R1125Q	R	-	2	0	FBN1	46566890	1.000000	0.71417	1.000000	0.80357	0.462000	0.32619	2.822000	0.48073	2.639000	0.89480	0.655000	0.94253	CGA	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417355.1		-	ENST00000316623.5	Missense_Mutation	SNP	15 : 48779598 - 48779598 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	572	123
MAPK7	5598	broad.mit.edu	37	17	19283132	19283132	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19283132C>T	ENST00000308406.5	+	3	656	c.270C>T	c.(268-270)ttC>ttT	p.F90F	MAPK7_ENST00000299612.7_Intron|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Silent_p.F90F|MAPK7_ENST00000395604.3_Silent_p.F90F	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	90	Protein kinase.|Required for binding to MAP2K5 (By similarity).				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|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	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	p.F90F(1)		autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CTAATGCTTTCGATGTGGTGA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											114	107	109			NA	NA	17		NA											NA				19283132		2203	4300	6503	SO:0001819	synonymous_variant			U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	5598	5598	2.7.11.24	Mitogen-activated protein kinase cascade / Kinases	6880	protein-coding gene	gene with protein product	BMK1 kinase, extracellular-signal-regulated kinase 5	602521		PRKM7	NA	10072598, 7759517	Standard	NM_139033	NM_139032	NA	Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.270C>T	17.37:g.19283132C>T		NA	Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	37	CCDS11206.1																																																																																			MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132506.1		+	ENST00000308406.5	Silent	SNP	17 : 19283132 - 19283132 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	542	89
SLC7A5	8140	broad.mit.edu	37	16	87874675	87874675	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87874675G>T	ENST00000261622.4	-	3	816	c.751C>A	c.(751-753)Ctc>Atc	p.L251I	SLC7A5_ENST00000565644.1_5'UTR	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	251					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)		TAGGCAAAGAGGCCGCTGTAT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													205	176	186			NA	NA	16		NA											NA				87874675		2198	4300	6498	SO:0001583	missense			AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257	8140	8140		CD molecules, Solute carriers	11063	protein-coding gene	gene with protein product		600182			NA	9751058, 7829099	Standard	NM_003486	XM_006721286	NA	Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.751C>A	16.37:g.87874675G>T	ENSP00000261622:p.Leu251Ile	NA	Q9UBN8|Q9UP15|Q9UQC0	37	CCDS10964.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.512358	0.64522	.	.	ENSG00000103257	ENST00000261622	D	0.90676	-2.71	5.33	5.33	0.75918	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.95465	0.8527	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94506	0.7714	10	0.34782	T	0.22	.	18.0096	0.89219	0.0:0.0:1.0:0.0	.	251	Q01650	LAT1_HUMAN	I	251	ENSP00000261622:L251I	ENSP00000261622:L251I	L	-	1	0	SLC7A5	86432176	1.000000	0.71417	1.000000	0.80357	0.341000	0.28922	5.427000	0.66483	2.503000	0.84419	0.561000	0.74099	CTC	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269110.2		-	ENST00000261622.4	Missense_Mutation	SNP	16 : 87874675 - 87874675 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	575	74
RPS6KA5	9252	broad.mit.edu	37	14	91526692	91526692	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91526692C>T	ENST00000261991.3	-	1	260	c.87G>A	c.(85-87)aaG>aaA	p.K29K	RPS6KA5_ENST00000418736.2_Silent_p.K29K	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	29					axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|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	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		GCAGCTCGTGCTTGACAGTGA	0.761		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													9	10	9			NA	NA	14		NA											NA				91526692		2151	4181	6332	SO:0001819	synonymous_variant			AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784	9252	9252			10434	protein-coding gene	gene with protein product		603607	ribosomal protein S6 kinase, 90kD, polypeptide 5		NA	9687510, 10702687	Standard	NM_004755	NM_004755	NA	Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.87G>A	14.37:g.91526692C>T		NA	O95316|Q96AF7	37	CCDS9893.1																																																																																			RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411442.2		-	ENST00000261991.3	Silent	SNP	14 : 91526692 - 91526692 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	92	24
DUSP27	92235	broad.mit.edu	37	1	167088604	167088604	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167088604T>C	ENST00000361200.2	+	5	722	c.556T>C	c.(556-558)Tac>Cac	p.Y186H	DUSP27_ENST00000443333.1_Missense_Mutation_p.Y186H|DUSP27_ENST00000271385.5_Missense_Mutation_p.Y186H			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	186					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGAGATCCAGTACCTGGGTGT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	117	122			NA	NA	1		NA											NA				167088604		2203	4300	6503	SO:0001583	missense			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842	92235	92235			25034	protein-coding gene	gene with protein product					NA		Standard	NM_001080426	NM_001080426	NA	Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.556T>C	1.37:g.167088604T>C	ENSP00000354483:p.Tyr186His	NA	A0AUM4|Q9C074	37	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.801391	0.90538	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.63913	-0.07;-0.07;-0.07	5.18	5.18	0.71444	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.73845	0.3639	M	0.73598	2.24	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.78775	-0.2072	10	0.87932	D	0	-24.5316	15.0182	0.71605	0.0:0.0:0.0:1.0	.	186	Q5VZP5	DUS27_HUMAN	H	186	ENSP00000354483:Y186H;ENSP00000271385:Y186H;ENSP00000404874:Y186H	ENSP00000271385:Y186H	Y	+	1	0	DUSP27	165355228	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	1.936000	0.56123	0.482000	0.46254	TAC	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083244.1		+	ENST00000361200.2	Missense_Mutation	SNP	1 : 167088604 - 167088604 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	31
ITGB3	3690	broad.mit.edu	37	17	45360742	45360742	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45360742G>A	ENST00000559488.1	+	3	204	c.188G>A	c.(187-189)cGc>cAc	p.R63H	ITGB3_ENST00000571680.1_Missense_Mutation_p.R63H|ITGB3_ENST00000560629.1_Silent_p.S51S|ITGB3_ENST00000435993.2_Missense_Mutation_p.R16H	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	63					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	GGCTCACCTCGCTGTGACCTG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	0,4406		0,0,2203	71	64	67		188	5.9	1	17		67	2,8598	1.2+/-3.3	0,2,4298	no	missense	ITGB3	NM_000212.2	29	0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154	probably-damaging	63/789	45360742	2,13004	2203	4300	6503	SO:0001583	missense				CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207	3690	3690		CD molecules, Integrins	6156	protein-coding gene	gene with protein product	platelet glycoprotein IIIa	173470		GP3A	NA	2454952	Standard	NM_000212	NM_000212	NA	Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.188G>A	17.37:g.45360742G>A	ENSP00000452786:p.Arg63His	NA	A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	37	CCDS11511.1	.	.	.	.	.	.	.	.	.	.	G	33	5.198349	0.94997	0.0	2.33E-4	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.95788	-3.81	5.88	5.88	0.94601	Integrin beta subunit, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98235	0.9416	M	0.91140	3.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98928	1.0786	10	0.87932	D	0	.	17.703	0.88301	0.0:0.0:1.0:0.0	.	63;63	P05106;Q2YFE1	ITB3_HUMAN;.	H	63;16	ENSP00000407801:R16H	ENSP00000262017:R63H	R	+	2	0	C17orf57	42715741	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	9.824000	0.99380	2.776000	0.95493	0.655000	0.94253	CGC	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416111.3		+	ENST00000559488.1	Missense_Mutation	SNP	17 : 45360742 - 45360742 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	272	53
KCNK18	338567	broad.mit.edu	37	10	118960693	118960693	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118960693C>T	ENST00000334549.1	+	2	247	c.247C>T	c.(247-249)Ctc>Ttc	p.L83F		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	83						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		AAAACAGGATCTCCAGGGGCA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	167	170			NA	NA	10		NA											NA				118960693		2203	4300	6503	SO:0001583	missense			AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795	338567	338567		Potassium channels, Voltage-gated ion channels / Potassium channels, Two-P	19439	protein-coding gene	gene with protein product	TWIK related spinal cord K+ channel	613655			NA	16382106	Standard	NM_181840	NM_181840	NA	Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.247C>T	10.37:g.118960693C>T	ENSP00000334650:p.Leu83Phe	NA	Q5SQQ8	37	CCDS7598.1	.	.	.	.	.	.	.	.	.	.	C	7.706	0.694040	0.15039	.	.	ENSG00000186795	ENST00000334549	T	0.16324	2.35	4.34	-2.37	0.06643	.	0.703620	0.13804	N	0.361593	T	0.07279	0.0184	N	0.19112	0.55	0.09310	N	1	P	0.45283	0.855	B	0.35859	0.212	T	0.40098	-0.9581	10	0.19590	T	0.45	.	8.3945	0.32548	0.0971:0.318:0.5131:0.0718	.	83	Q7Z418	KCNKI_HUMAN	F	83	ENSP00000334650:L83F	ENSP00000334650:L83F	L	+	1	0	KCNK18	118950683	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-0.261000	0.08694	-0.423000	0.07394	-0.176000	0.13171	CTC	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050562.2		+	ENST00000334549.1	Missense_Mutation	SNP	10 : 118960693 - 118960693 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1053	186
IGSF9B	22997	broad.mit.edu	37	11	133790553	133790553	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133790553T>G	ENST00000533871.2	-	18	3297	c.3067A>C	c.(3067-3069)Agc>Cgc	p.S1023R	IGSF9B_ENST00000321016.8_Missense_Mutation_p.S1023R	NM_001277285.1	NP_001264214.1	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1023	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGCAGCGTGCTGTTGGATGCA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	70	67			NA	NA	11		NA											NA				133790553		2083	4219	6302	SO:0001583	missense			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20			22997	22997		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	32326	protein-coding gene	gene with protein product		613773			NA		Standard	XM_290502	NM_001277285	NA	Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000533871.2:c.3067A>C	11.37:g.133790553T>G	ENSP00000436552:p.Ser1023Arg	NA		37		.	.	.	.	.	.	.	.	.	.	t	12.19	1.863010	0.32884	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.65916	0.16;-0.18	4.93	4.93	0.64822	.	0.000000	0.53938	D	0.000060	T	0.63534	0.2519	N	0.14661	0.345	0.35023	D	0.758053	D	0.65815	0.995	D	0.70487	0.969	T	0.72798	-0.4184	10	0.40728	T	0.16	.	14.2931	0.66292	0.0:0.0:0.0:1.0	.	1023	Q9UPX0	TUTLB_HUMAN	R	1023;865	ENSP00000317980:S1023R;ENSP00000436552:S865R	ENSP00000317980:S1023R	S	-	1	0	IGSF9B	133295763	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	7.600000	0.82769	1.855000	0.53841	0.449000	0.29647	AGC	IGSF9B-002	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000471431.1		-	ENST00000533871.2	Missense_Mutation	SNP	11 : 133790553 - 133790553 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	614	115
ENPP7	339221	broad.mit.edu	37	17	77711050	77711050	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77711050C>T	ENST00000328313.5	+	4	1458	c.1237C>T	c.(1237-1239)Ctg>Ttg	p.L413L		NM_178543.3	NP_848638.3	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	413					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCTGCCCATGCTGCACACAGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	24	25			NA	NA	17		NA											NA				77711050		2202	4300	6502	SO:0001819	synonymous_variant			AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156	339221	339221			23764	protein-coding gene	gene with protein product	alkaline sphingomyelinase				NA	12885774	Standard	NM_178543	NM_178543	NA	Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.1237C>T	17.37:g.77711050C>T		NA	Q6ZTS5|Q8IUS8	37	CCDS11763.1																																																																																			ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437038.1		+	ENST00000328313.5	Silent	SNP	17 : 77711050 - 77711050 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	120	12
SYMPK	8189	broad.mit.edu	37	19	46351106	46351106	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46351106G>T	ENST00000245934.7	-	7	824	c.580C>A	c.(580-582)Ctg>Atg	p.L194M		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	194					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CGGGGTGACAGGGTGACAATG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	92	98			NA	NA	19		NA											NA				46351106		2203	4300	6503	SO:0001583	missense			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755	8189	8189			22935	protein-coding gene	gene with protein product		602388			NA	9330635	Standard	NM_004819	NM_004819	NA	Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.580C>A	19.37:g.46351106G>T	ENSP00000245934:p.Leu194Met	NA	O00521|O00689|O00733|Q59GT5|Q8N2U5	37	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253472	0.59212	.	.	ENSG00000125755	ENST00000245934	T	0.51325	0.71	5.5	2.29	0.28610	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.57242	0.2040	M	0.63843	1.955	0.41784	D	0.989833	D;P	0.63046	0.992;0.849	D;P	0.65573	0.936;0.811	T	0.52764	-0.8532	10	0.35671	T	0.21	.	7.2308	0.26040	0.335:0.0:0.665:0.0	.	209;194	Q4LE61;Q92797	.;SYMPK_HUMAN	M	194	ENSP00000245934:L194M	ENSP00000245934:L194M	L	-	1	2	SYMPK	51042946	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	2.346000	0.44027	0.452000	0.26830	0.655000	0.94253	CTG	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316581.1		-	ENST00000245934.7	Missense_Mutation	SNP	19 : 46351106 - 46351106 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	43
IFIT3	3437	broad.mit.edu	37	10	91098786	91098786	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91098786A>T	ENST00000371818.4	+	2	554	c.374A>T	c.(373-375)aAg>aTg	p.K125M	LIPA_ENST00000487618.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.K125M|LIPA_ENST00000371837.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	125					type I interferon-mediated signaling pathway		protein binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						CAAACCTGCAAGAAATTTTCA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	65	63			NA	NA	10		NA											NA				91098786		2203	4300	6503	SO:0001583	missense			U52513	CCDS7402.1, CCDS31241.1	10q23.31	2014-05-22	2004-07-16	2004-07-16	ENSG00000119917	ENSG00000119917	3437	3437		Tetratricopeptide (TTC) repeat domain containing	5411	protein-coding gene	gene with protein product		604650	interferon-induced protein with tetratricopeptide repeats 4	IFIT4	NA	9828129, 9391139	Standard	NM_001549	NM_001031683	NA	Approved	ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2	uc001kgg.3	O14879	OTTHUMG00000018708	ENST00000371818.4:c.374A>T	10.37:g.91098786A>T	ENSP00000360883:p.Lys125Met	NA	Q99634|Q9BSK7	37	CCDS7402.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.379661	0.42207	.	.	ENSG00000119917	ENST00000371818;ENST00000371811	T;T	0.76316	-1.01;-1.01	4.71	2.32	0.28847	Tetratricopeptide-like helical (1);	0.814160	0.11368	N	0.571235	T	0.78792	0.4339	L	0.50333	1.59	0.31164	N	0.703982	P	0.41848	0.763	P	0.51974	0.686	T	0.74691	-0.3580	10	0.59425	D	0.04	-0.1749	6.3659	0.21455	0.7797:0.0:0.0794:0.1409	.	125	O14879	IFIT3_HUMAN	M	125	ENSP00000360883:K125M;ENSP00000360876:K125M	ENSP00000360876:K125M	K	+	2	0	IFIT3	91088766	0.864000	0.29904	0.540000	0.28089	0.336000	0.28762	1.583000	0.36579	0.509000	0.28195	0.528000	0.53228	AAG	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049294.1		+	ENST00000371818.4	Missense_Mutation	SNP	10 : 91098786 - 91098786 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	75
CTC1	80169	broad.mit.edu	37	17	8131620	8131620	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8131620G>A	ENST00000315684.8	-	23	3539	c.3532C>T	c.(3532-3534)Cga>Tga	p.R1178*		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	1178					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CACTGGAATCGCTGTAGCCGA	0.547		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	17		NA											NA				8131620		2034	4195	6229	SO:0001587	stop_gained			AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971	80169	80169			26169	protein-coding gene	gene with protein product	conserved telomere maintenance component 1, alpha accessory factor 132, conserved telomere capping protein 1	613129	tmp494178, chromosome 17 open reading frame 68	C17orf68	NA	19854130, 19854131	Standard	NM_025099	NM_025099	NA	Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.3532C>T	17.37:g.8131620G>A	ENSP00000313759:p.Arg1178*	NA	B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	37	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	G	41	9.047756	0.99048	.	.	ENSG00000178971	ENST00000315684	.	.	.	5.91	4.92	0.64577	.	0.400252	0.26586	N	0.023549	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.5863	12.2985	0.54860	0.0:0.0:0.8308:0.1692	.	.	.	.	X	1178	.	ENSP00000313759:R1178X	R	-	1	2	CTC1	8072345	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	2.878000	0.48515	1.454000	0.47793	0.655000	0.94253	CGA	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442012.1		-	ENST00000315684.8	Nonsense_Mutation	SNP	17 : 8131620 - 8131620 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	499	92
ANK2	287	broad.mit.edu	37	4	114158312	114158312	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114158312C>A	ENST00000357077.4	+	6	706	c.653C>A	c.(652-654)gCt>gAt	p.A218D	ANK2_ENST00000506722.1_Missense_Mutation_p.A197D|ANK2_ENST00000394537.3_Missense_Mutation_p.A218D|ANK2_ENST00000264366.6_Missense_Mutation_p.A218D	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	218					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GACCACAATGCTGACGTACAA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	131	135			NA	NA	4		NA											NA				114158312		2203	4300	6503	SO:0001583	missense			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362	287	287		Ankyrin repeat domain containing	493	protein-coding gene	gene with protein product		106410	long (electrocardiographic) QT syndrome 4	LQT4	NA	7485162, 12571597	Standard	NM_001148	NM_001148	NA	Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.653C>A	4.37:g.114158312C>A	ENSP00000349588:p.Ala218Asp	NA	Q01485|Q08AC7|Q08AC8|Q7Z3L5	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896285	0.91962	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.71698	-0.59;-0.13;-0.38;-0.27;-0.59;-0.32;-0.32	5.57	5.57	0.84162	Ankyrin repeat-containing domain (3);	0.000000	0.51477	D	0.000096	T	0.79851	0.4517	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.995;1.0;1.0;0.999	D;D;D;D;D	0.97110	0.999;0.922;1.0;0.999;0.998	T	0.80569	-0.1324	10	0.66056	D	0.02	.	19.9024	0.96993	0.0:1.0:0.0:0.0	.	218;218;218;197;197	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	D	197;197;197;233;218;218;218;197	ENSP00000423799:A197D;ENSP00000421011:A197D;ENSP00000421067:A197D;ENSP00000424722:A233D;ENSP00000378044:A218D;ENSP00000349588:A218D;ENSP00000264366:A218D	ENSP00000264366:A218D	A	+	2	0	ANK2	114377761	1.000000	0.71417	0.637000	0.29366	0.752000	0.42762	7.776000	0.85560	2.775000	0.95449	0.650000	0.86243	GCT	ANK2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256422.2		+	ENST00000357077.4	Missense_Mutation	SNP	4 : 114158312 - 114158312 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	713	112
SKIV2L2	23517	broad.mit.edu	37	5	54706447	54706447	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54706447T>G	ENST00000230640.5	+	23	2995	c.2741T>G	c.(2740-2742)tTt>tGt	p.F914C	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.F813C	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	914					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TGCTTTGTGTTTCAAGAGAAT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(2;92 134 23744 29976 33782)							NA				0													164	147	153			NA	NA	5		NA											NA				54706447		2203	4300	6503	SO:0001583	missense			D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123	23517	23517			18734	protein-coding gene	gene with protein product	functional spliceosome-associated protein 118		KIAA0052	KIAA0052	NA		Standard		NM_015360	NA	Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.2741T>G	5.37:g.54706447T>G	ENSP00000230640:p.Phe914Cys	NA	Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	37	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	T	15.18	2.758141	0.49468	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.25749	1.78;1.78	5.1	5.1	0.69264	DSH, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.23410	0.0566	L	0.33093	0.98	0.80722	D	1	B;B	0.23650	0.07;0.089	B;B	0.29353	0.043;0.101	T	0.03717	-1.1010	10	0.35671	T	0.21	-32.1727	15.1757	0.72910	0.0:0.0:0.0:1.0	.	813;914	F5H7E2;P42285	.;SK2L2_HUMAN	C	914;813	ENSP00000230640:F914C;ENSP00000442583:F813C	ENSP00000230640:F914C	F	+	2	0	SKIV2L2	54742204	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.549000	0.82163	2.047000	0.60756	0.482000	0.46254	TTT	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214108.1		+	ENST00000230640.5	Missense_Mutation	SNP	5 : 54706447 - 54706447 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	474	77
MATR3	9782	broad.mit.edu	37	5	138643992	138643992	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138643992T>C	ENST00000394800.2	+	6	1437	c.888T>C	c.(886-888)tgT>tgC	p.C296C	MATR3_ENST00000502929.1_Silent_p.C296C|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000394805.3_Silent_p.C296C|MATR3_ENST00000510056.1_Silent_p.C296C|MATR3_ENST00000361059.2_Silent_p.C296C|MATR3_ENST00000509990.1_Silent_p.C296C|MATR3_ENST00000504203.1_Intron			P43243	MATR3_HUMAN	matrin 3	296						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GCTCTATATGTGATTTGCCAG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	120	119			NA	NA	5		NA											NA				138643992		2203	4300	6503	SO:0001819	synonymous_variant			M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479	9782	9782			6912	protein-coding gene	gene with protein product		164015	myopathy, distal 2	MPD2	NA	2033075, 19344878	Standard	NM_018834	NM_018834	NA	Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394800.2:c.888T>C	5.37:g.138643992T>C		NA	D3DQC3|Q9UHW0|Q9UQ27	37		.	.	.	.	.	.	.	.	.	.	T	2.205	-0.382054	0.04966	.	.	ENSG00000015479	ENST00000515833	.	.	.	5.4	4.23	0.50019	.	.	.	.	.	T	0.61362	0.2341	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59568	-0.7430	4	.	.	.	-10.153	10.9343	0.47237	0.0:0.0738:0.0:0.9262	.	.	.	.	A	70	.	.	V	+	2	0	MATR3	138671891	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.243000	0.58721	2.171000	0.68590	0.459000	0.35465	GTG	MATR3-001	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000251323.1		+	ENST00000394800.2	Silent	SNP	5 : 138643992 - 138643992 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1029	197
IRX1	79192	broad.mit.edu	37	5	3600738	3600738	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:3600738C>T	ENST00000302006.3	+	3	1380	c.1328C>T	c.(1327-1329)cCc>cTc	p.P443L		NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	443						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GACCTCGTCCCCAGGCCAGAT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	60	59			NA	NA	5		NA											NA				3600738		2203	4300	6503	SO:0001583	missense			U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549	79192	79192		Homeoboxes / TALE class	14358	protein-coding gene	gene with protein product		606197			NA		Standard	NM_024337	NM_024337	NA	Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.1328C>T	5.37:g.3600738C>T	ENSP00000305244:p.Pro443Leu	NA	Q7Z2F8|Q8N312	37	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	C	6.284	0.420504	0.11928	.	.	ENSG00000170549	ENST00000302006	T	0.56941	0.43	4.17	3.3	0.37823	.	0.611325	0.15458	N	0.261247	T	0.37919	0.1021	N	0.22421	0.69	0.40193	D	0.977423	B	0.02656	0.0	B	0.04013	0.001	T	0.12477	-1.0546	10	0.33940	T	0.23	.	11.74	0.51788	0.0:0.9124:0.0:0.0876	.	443	P78414	IRX1_HUMAN	L	443	ENSP00000305244:P443L	ENSP00000305244:P443L	P	+	2	0	IRX1	3653738	1.000000	0.71417	0.397000	0.26308	0.201000	0.24016	2.611000	0.46334	0.729000	0.32403	0.467000	0.42956	CCC	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365546.1		+	ENST00000302006.3	Missense_Mutation	SNP	5 : 3600738 - 3600738 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	584	82
CHD4	1108	broad.mit.edu	37	12	6701917	6701917	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6701917T>G	ENST00000544484.1	-	18	2856	c.2710A>C	c.(2710-2712)Aac>Cac	p.N904H	CHD4_ENST00000544040.1_Missense_Mutation_p.N900H|CHD4_ENST00000357008.2_Missense_Mutation_p.N907H|CHD4_ENST00000309577.6_Missense_Mutation_p.N907H			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	907	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TCCAGATTGTTTTGTAATGGT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(32;586 792 4568 16848 45314)							NA				0													118	118	118			NA	NA	12		NA											NA				6701917		2203	4300	6503	SO:0001583	missense			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642	1108	1108		Zinc fingers, PHD-type	1919	protein-coding gene	gene with protein product		603277			NA	7575689, 8843877	Standard	NM_001273	XM_006718958	NA	Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000544484.1:c.2710A>C	12.37:g.6701917T>G	ENSP00000440392:p.Asn904His	NA	Q8IXZ5	37		.	.	.	.	.	.	.	.	.	.	T	23.1	4.371176	0.82573	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.95238	-3.65;-3.65;-3.65;-3.65	5.66	5.66	0.87406	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.98713	0.9568	H	0.99650	4.68	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.998;0.999;0.996	D	0.99509	1.0955	10	0.87932	D	0	23.5174	15.9051	0.79423	0.0:0.0:0.0:1.0	.	907;907;900	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	H	904;900;907;907;881	ENSP00000440392:N904H;ENSP00000440542:N900H;ENSP00000312419:N907H;ENSP00000349508:N907H	ENSP00000312419:N907H	N	-	1	0	CHD4	6572178	1.000000	0.71417	0.935000	0.37517	0.920000	0.55202	8.013000	0.88655	2.151000	0.67156	0.455000	0.32223	AAC	CHD4-013	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000402631.1		-	ENST00000544484.1	Missense_Mutation	SNP	12 : 6701917 - 6701917 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	431	20
STK36	27148	broad.mit.edu	37	2	219538400	219538400	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219538400G>T	ENST00000295709.3	+	3	416	c.137G>T	c.(136-138)aGg>aTg	p.R46M	STK36_ENST00000440309.1_Missense_Mutation_p.R46M|STK36_ENST00000392105.3_Missense_Mutation_p.R46M|STK36_ENST00000392106.2_Missense_Mutation_p.R46M	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	46	Protein kinase.				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		AAGGAGCTGAGGAATTTGCAA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	76	76			NA	NA	2		NA											NA				219538400		2203	4300	6503	SO:0001583	missense			AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482	27148	27148			17209	protein-coding gene	gene with protein product	fused homolog (Drosophila)	607652	serine/threonine kinase 36 (fused homolog, Drosophila)		NA	10806483	Standard		NM_001243313	NA	Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.137G>T	2.37:g.219538400G>T	ENSP00000295709:p.Arg46Met	NA	B7WPM3|Q8TC32|Q9H9N9|Q9UF35|Q9ULE2	37	CCDS2421.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703019	0.48412	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309;ENST00000424080	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21	5.72	2.88	0.33553	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.402596	0.21314	N	0.076600	T	0.54367	0.1854	L	0.31578	0.945	0.40073	D	0.976035	B;B	0.25563	0.129;0.081	B;B	0.33042	0.097;0.157	T	0.50709	-0.8796	10	0.62326	D	0.03	-5.5108	7.5168	0.27606	0.4912:0.0:0.5088:0.0	.	46;46	Q9NRP7-2;Q9NRP7	.;STK36_HUMAN	M	46	ENSP00000295709:R46M;ENSP00000375955:R46M;ENSP00000375954:R46M;ENSP00000394095:R46M;ENSP00000403527:R46M	ENSP00000295709:R46M	R	+	2	0	STK36	219246644	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.139000	0.31504	0.321000	0.23259	-0.150000	0.13652	AGG	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256723.2		+	ENST00000295709.3	Missense_Mutation	SNP	2 : 219538400 - 219538400 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	243	59
SFI1	9814	broad.mit.edu	37	22	32014362	32014362	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32014362C>T	ENST00000432498.1	+	32	3987	c.3594C>T	c.(3592-3594)gcC>gcT	p.A1198A	SFI1_ENST00000540643.1_Silent_p.A1174A|SFI1_ENST00000414585.1_3'UTR|SFI1_ENST00000443011.1_Silent_p.A1076A|SFI1_ENST00000443326.1_Silent_p.A1147A|SFI1_ENST00000474741.1_3'UTR|SFI1_ENST00000400288.2_Silent_p.A1229A|SFI1_ENST00000400289.1_Silent_p.A1147A	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	1229					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CCATTGGCGCCTGCGTTGCCC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	17	16			NA	NA	22		NA											NA				32014362		1957	4127	6084	SO:0001819	synonymous_variant			AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089	9814	9814			29064	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 139	612765			NA	14504268	Standard	NM_014775	NM_001007467	NA	Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000432498.1:c.3594C>T	22.37:g.32014362C>T		NA	A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	37	CCDS43005.1																																																																																			SFI1-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075103.4		+	ENST00000432498.1	Silent	SNP	22 : 32014362 - 32014362 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	126	24
ISM2	145501	broad.mit.edu	37	14	77942269	77942269	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77942269C>T	ENST00000342219.4	-	7	1441	c.1385G>A	c.(1384-1386)cGc>cAc	p.R462H	ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000393684.3_Missense_Mutation_p.R374H|ISM2_ENST00000429906.1_Missense_Mutation_p.R381H|ISM2_ENST00000412904.1_Missense_Mutation_p.R381H	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	462	AMOP.					extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						CAGGCGCTCGCGAGGGCCACT	0.672		NA											C	1	5e-04	NA	0.0028	2184	NA	0.9995	,	,	NA	3e-04	NA	NA	NA	7e-04	0.733	EXOME	NA	NA	0.0017	SNP								NA				0													30	32	32			NA	NA	14		NA											NA				77942269		2203	4298	6501	SO:0001583	missense			AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593	145501	145501			23176	protein-coding gene	gene with protein product	thrombospondin and AMOP containing isthmin-like 1	612684	thrombospondin, type I domain-containing 3, thrombospondin, type I, domain containing 3, isthmin 2 homolog (zebrafish)	THSD3	NA	15194193	Standard	NM_182509	NM_199296	NA	Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.1385G>A	14.37:g.77942269C>T	ENSP00000341490:p.Arg462His	NA	A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	37	CCDS9864.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	9.228	1.035076	0.19590	.	.	ENSG00000100593	ENST00000342219;ENST00000412904;ENST00000429906;ENST00000393684	T;T;T;T	0.24723	1.84;1.87;1.87;2.18	4.85	-1.09	0.09904	AMOP (3);	0.470130	0.21324	N	0.076419	T	0.17365	0.0417	L	0.50333	1.59	0.09310	N	1	B;B	0.29232	0.055;0.238	B;B	0.20955	0.011;0.032	T	0.13072	-1.0523	10	0.72032	D	0.01	-1.9949	5.174	0.15126	0.0:0.3412:0.155:0.5038	.	381;462	Q6H9L7-5;Q6H9L7	.;ISM2_HUMAN	H	462;381;381;374	ENSP00000341490:R462H;ENSP00000416773:R381H;ENSP00000395387:R381H;ENSP00000377289:R374H	ENSP00000341490:R462H	R	-	2	0	ISM2	77012022	0.038000	0.19896	0.000000	0.03702	0.000000	0.00434	0.959000	0.29240	-0.097000	0.12307	-0.467000	0.05162	CGC	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351309.1		-	ENST00000342219.4	Missense_Mutation	SNP	14 : 77942269 - 77942269 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	241	9
FHDC1	85462	broad.mit.edu	37	4	153897279	153897279	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:153897279C>T	ENST00000511601.1	+	12	3024	c.2836C>T	c.(2836-2838)Cgg>Tgg	p.R946W	FHDC1_ENST00000260008.3_Missense_Mutation_p.R946W			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	946					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GAACTCCGTGCGGAGGGCCTC	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	20	19			NA	NA	4		NA											NA				153897279		2203	4292	6495	SO:0001583	missense			AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460	85462	85462			29363	protein-coding gene	gene with protein product					NA	15138637	Standard	NM_033393	NM_033393	NA	Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.2836C>T	4.37:g.153897279C>T	ENSP00000427567:p.Arg946Trp	NA		37	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485608	0.44147	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.41065	1.01;1.01	5.7	-11.4	0.00090	.	7.299360	0.01545	U	0.019398	T	0.51770	0.1694	L	0.32530	0.975	0.09310	N	1	D	0.76494	0.999	P	0.56088	0.791	T	0.69363	-0.5165	10	0.62326	D	0.03	.	27.3211	0.99998	0.1909:0.8091:0.0:0.0	.	946	Q9C0D6	FHDC1_HUMAN	W	946	ENSP00000427567:R946W;ENSP00000260008:R946W	ENSP00000260008:R946W	R	+	1	2	FHDC1	154116729	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.072000	0.11486	-2.584000	0.00460	-1.014000	0.02459	CGG	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364981.2		+	ENST00000511601.1	Missense_Mutation	SNP	4 : 153897279 - 153897279 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	215	26
MSL3	10943	broad.mit.edu	37	X	11783890	11783890	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:11783890G>A	ENST00000337339.2	+	9	1240	c.1213G>A	c.(1213-1215)Gtg>Atg	p.V405M	MSL3_ENST00000467141.1_Intron|MSL3_ENST00000380693.3_Intron|MSL3_ENST00000361672.2_Intron|MSL3_ENST00000312196.4_Intron|MSL3_ENST00000398527.2_Intron	NM_078628.1	NP_523352.1	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	0					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity	p.V405M(1)		breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						GAGAGCCAGCGTGTACTTTGT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	breast(1)											129	89	102			NA	NA	X		NA											NA				11783890		2203	4300	6503	SO:0001583	missense			AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302	10943	10943			7370	protein-coding gene	gene with protein product		300609	male-specific lethal-3 (Drosophila)-like 1, male-specific lethal 3-like 1 (Drosophila)	MSL3L1	NA	10395802, 10908644	Standard	NM_006800	NM_078628	NA	Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000337339.2:c.1213G>A	X.37:g.11783890G>A	ENSP00000338078:p.Val405Met	NA	Q9UG70|Q9Y5Z8	37	CCDS14148.1	.	.	.	.	.	.	.	.	.	.	G	0.682	-0.797841	0.02862	.	.	ENSG00000005302	ENST00000337339	T	0.08282	3.11	2.6	-5.21	0.02815	.	.	.	.	.	T	0.02767	0.0083	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.39623	-0.9605	8	.	.	.	.	1.4471	0.02367	0.4259:0.2655:0.1792:0.1294	.	405	A6NHW8	.	M	405	ENSP00000338078:V405M	.	V	+	1	0	MSL3	11693811	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.091000	0.00609	-2.620000	0.00440	-1.327000	0.01280	GTG	MSL3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055749.2		+	ENST00000337339.2	Missense_Mutation	SNP	X : 11783890 - 11783890 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	496	123
KIAA0922	23240	broad.mit.edu	37	4	154525552	154525552	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154525552G>T	ENST00000409959.3	+	25	3437	c.3388G>T	c.(3388-3390)Gac>Tac	p.D1130Y	KIAA0922_ENST00000440693.1_Missense_Mutation_p.D1046Y|KIAA0922_ENST00000409663.3_Missense_Mutation_p.D1129Y	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	1129						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CCACCAGCCAGACTTGCCAGA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	63	63			NA	NA	4		NA											NA				154525552		2201	4292	6493	SO:0001583	missense			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210	23240	23240			29146	protein-coding gene	gene with protein product					NA	10231032, 11230166	Standard	NM_015196	NM_015196	NA	Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409959.3:c.3388G>T	4.37:g.154525552G>T	ENSP00000386787:p.Asp1130Tyr	NA	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	37	CCDS47148.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.463610	0.43736	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.21361	2.29;2.01;2.29;2.02	5.98	5.14	0.70334	.	0.492803	0.23396	N	0.048640	T	0.40372	0.1114	L	0.47716	1.5	0.40617	D	0.98172	D;D;D	0.89917	1.0;0.99;0.983	D;D;P	0.75484	0.986;0.913;0.822	T	0.30851	-0.9964	10	0.72032	D	0.01	-16.3091	14.9496	0.71060	0.0682:0.0:0.9318:0.0	.	1046;1130;1129	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	Y	1129;1046;1130;907	ENSP00000386574:D1129Y;ENSP00000409663:D1046Y;ENSP00000386787:D1130Y;ENSP00000240487:D907Y	ENSP00000240487:D907Y	D	+	1	0	KIAA0922	154745002	1.000000	0.71417	0.996000	0.52242	0.961000	0.63080	5.047000	0.64232	1.531000	0.49152	0.655000	0.94253	GAC	KIAA0922-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330369.1		+	ENST00000409959.3	Missense_Mutation	SNP	4 : 154525552 - 154525552 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	732	64
GABRD	2563	broad.mit.edu	37	1	1956825	1956825	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1956825C>A	ENST00000378585.4	+	3	317	c.234C>A	c.(232-234)atC>atA	p.I78I		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	78						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCGACCACATCTCAGAGGCCA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	67	66			NA	NA	1		NA											NA				1956825		2203	4300	6503	SO:0001819	synonymous_variant			BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730	2563	2563		GABA receptors, Ligand-gated ion channels / GABA(A) receptors	4084	protein-coding gene	gene with protein product	GABA(A) receptor, delta	137163			NA	2176788, 10965146	Standard	NM_000815	NM_000815	NA	Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.234C>A	1.37:g.1956825C>A		NA	Q8N4N9	37	CCDS36.1																																																																																			GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000098493.1		+	ENST00000378585.4	Silent	SNP	1 : 1956825 - 1956825 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	562	66
TRRAP	8295	broad.mit.edu	37	7	98522833	98522833	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98522833G>A	ENST00000446306.3	+	21	2980	c.2919G>A	c.(2917-2919)atG>atA	p.M973I	TRRAP_ENST00000355540.3_Missense_Mutation_p.M974I|TRRAP_ENST00000359863.4_Missense_Mutation_p.M974I			Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	974					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGGTGGCCATGATGAGCCTGG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	139	151			NA	NA	7		NA											NA				98522833		2203	4300	6503	SO:0001583	missense			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367	8295	8295			12347	protein-coding gene	gene with protein product		603015			NA	9708738, 9885574	Standard	NM_003496	NM_003496	NA	Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000446306.3:c.2919G>A	7.37:g.98522833G>A	ENSP00000403708:p.Met973Ile	NA	A4D265|O75218|Q9Y631|Q9Y6H4	37		.	.	.	.	.	.	.	.	.	.	G	19.33	3.807794	0.70797	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.02763	4.17;4.17	6.17	6.17	0.99709	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.04952	0.0133	L	0.50333	1.59	0.80722	D	1	B;B;B	0.31026	0.304;0.031;0.131	B;B;B	0.26517	0.07;0.026;0.044	T	0.52230	-0.8603	10	0.23891	T	0.37	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	974;688;974	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	I	974;974;972	ENSP00000352925:M974I;ENSP00000347733:M974I	ENSP00000347733:M974I	M	+	3	0	TRRAP	98360769	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.728000	0.98792	2.941000	0.99782	0.655000	0.94253	ATG	TRRAP-004	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000317981.3		+	ENST00000446306.3	Missense_Mutation	SNP	7 : 98522833 - 98522833 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	618	121
KANK1	23189	broad.mit.edu	37	9	712587	712587	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:712587G>T	ENST00000382303.1	+	7	2473	c.1821G>T	c.(1819-1821)gaG>gaT	p.E607D	KANK1_ENST00000382293.3_Missense_Mutation_p.E449D|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Missense_Mutation_p.E607D	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	607					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GCAACACAGAGGAGTCTGTGA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													183	158	166			NA	NA	9		NA											NA				712587		2203	4300	6503	SO:0001583	missense			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104	23189	23189		KN motif and ankyrin repeat domain containing, Ankyrin repeat domain containing	19309	protein-coding gene	gene with protein product		607704	ankyrin repeat domain 15	ANKRD15	NA	12133830, 17996375, 19554261	Standard	NM_015158	NM_015158	NA	Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.1821G>T	9.37:g.712587G>T	ENSP00000371740:p.Glu607Asp	NA	D3DRH3|Q5W0W0|Q8IY65|Q8WX74	37	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.706310	0.30232	.	.	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297;ENST00000382293	T;T;T	0.79454	-1.27;-1.27;-1.27	5.96	1.25	0.21368	.	0.219708	0.31909	N	0.006867	T	0.71668	0.3367	L	0.43152	1.355	0.80722	D	1	P;B	0.48911	0.917;0.074	P;B	0.49140	0.601;0.055	T	0.68481	-0.5397	10	0.46703	T	0.11	-0.6817	6.9281	0.24426	0.2122:0.2542:0.5336:0.0	.	607;607	Q5W0W1;Q14678	.;KANK1_HUMAN	D	607;607;607;449	ENSP00000371740:E607D;ENSP00000371734:E607D;ENSP00000371730:E449D	ENSP00000346479:E607D	E	+	3	2	KANK1	702587	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	1.463000	0.35277	0.815000	0.34398	0.650000	0.86243	GAG	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051484.2		+	ENST00000382303.1	Missense_Mutation	SNP	9 : 712587 - 712587 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	57
DCAF6	55827	broad.mit.edu	37	1	167944232	167944232	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167944232T>C	ENST00000367840.3	+	4	511	c.417T>C	c.(415-417)tgT>tgC	p.C139C	DCAF6_ENST00000312263.6_Silent_p.C139C|DCAF6_ENST00000432587.2_Silent_p.C108C|DCAF6_ENST00000367843.3_Silent_p.C139C|DCAF6_ENST00000470919.1_3'UTR	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	139					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AATTTACGTGTCATTATGGAA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	105	107			NA	NA	1		NA											NA				167944232		2203	4300	6503	SO:0001819	synonymous_variant			AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164	55827	55827		WD repeat domain containing, DDB1 and CUL4 associated factors	30002	protein-coding gene	gene with protein product		610494	IQ motif and WD repeats 1	IQWD1	NA	12032826	Standard	NM_018442	NM_018442	NA	Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000367840.3:c.417T>C	1.37:g.167944232T>C		NA	A2A295|Q7L8I0|Q8IXH3|Q8TB19	37	CCDS55657.1																																																																																			DCAF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083659.3		+	ENST00000367840.3	Silent	SNP	1 : 167944232 - 167944232 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	513	48
FSCB	84075	broad.mit.edu	37	14	44974140	44974140	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:44974140G>T	ENST00000340446.4	-	1	2342	c.2051C>A	c.(2050-2052)tCt>tAt	p.S684Y		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	684						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AGCTGGTAGAGACTGAACTTC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	39	37			NA	NA	14		NA											NA				44974140		2202	4300	6502	SO:0001583	missense			AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139	84075	84075			20494	protein-coding gene	gene with protein product		611779	chromosome 14 open reading frame 155	C14orf155	NA	17855365	Standard	NM_032135	NM_032135	NA	Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.2051C>A	14.37:g.44974140G>T	ENSP00000344579:p.Ser684Tyr	NA	Q5H9U7|Q86YI2|Q9H0J3	37	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296614	0.23650	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.15017	2.46	4.69	0.56	0.17279	.	.	.	.	.	T	0.20780	0.0500	L	0.53249	1.67	0.09310	N	1	P	0.49090	0.919	P	0.49597	0.616	T	0.11792	-1.0573	9	0.59425	D	0.04	1.4952	4.7706	0.13153	0.1696:0.0:0.5315:0.2988	.	684	Q5H9T9	FSCB_HUMAN	Y	684;577	ENSP00000344579:S684Y	ENSP00000344579:S684Y	S	-	2	0	FSCB	44043890	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.068000	0.14531	0.009000	0.14813	-0.362000	0.07510	TCT	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276788.1		-	ENST00000340446.4	Missense_Mutation	SNP	14 : 44974140 - 44974140 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	208	9
FAT4	79633	broad.mit.edu	37	4	126369632	126369632	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126369632G>A	ENST00000394329.3	+	9	7474	c.7461G>A	c.(7459-7461)gcG>gcA	p.A2487A	FAT4_ENST00000335110.5_Silent_p.A785A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2487	Cadherin 24.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTGTCTTTGCGGTTACAGTCA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	90	90			NA	NA	4		NA											NA				126369632		2203	4299	6502	SO:0001819	synonymous_variant			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159	79633	79633		Cadherins / Cadherin-related	23109	protein-coding gene	gene with protein product	cadherin-related family member 11	612411	FAT tumor suppressor homolog 4 (Drosophila)		NA	15003449	Standard	NM_024582	NM_024582	NA	Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.7461G>A	4.37:g.126369632G>A		NA	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	37	CCDS3732.3																																																																																			FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256765.2		+	ENST00000394329.3	Silent	SNP	4 : 126369632 - 126369632 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	640	86
C11orf1	64776	broad.mit.edu	37	11	111753104	111753104	+	Missense_Mutation	SNP	G	G	A	rs139660891		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111753104G>A	ENST00000530214.1	+	2	77	c.58G>A	c.(58-60)Gcc>Acc	p.A20T	C11orf1_ENST00000528125.1_5'UTR|C11orf1_ENST00000529270.1_Missense_Mutation_p.A60T|C11orf1_ENST00000260276.3_Missense_Mutation_p.A20T			Q9H5F2	CK001_HUMAN	chromosome 11 open reading frame 1	20						nucleus				kidney(2)|lung(3)	5		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)		ACAGAACCTCGCCTGTTTCCT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA	1,4401	2.1+/-5.4	0,1,2200	87	74	78		58	-5.8	0	11	dbSNP_134	78	1,8593	1.2+/-3.3	0,1,4296	no	missense	C11orf1	NM_022761.2	58	0,2,6496	AA,AG,GG	NA	0.0116,0.0227,0.0154	benign	20/151	111753104	2,12994	2201	4297	6498	SO:0001583	missense			AJ250229	CCDS8350.1	11q23.1	2012-05-30			ENSG00000137720	ENSG00000137720	64776	64776			1163	protein-coding gene	gene with protein product					NA	10873569	Standard	NM_022761	NM_022761	NA	Approved	FLJ23499	uc001pmd.3	Q9H5F2	OTTHUMG00000166884	ENST00000530214.1:c.58G>A	11.37:g.111753104G>A	ENSP00000435864:p.Ala20Thr	NA	Q6I9X7|Q9NQC6	37		.	.	.	.	.	.	.	.	.	.	G	13.90	2.375681	0.42105	2.27E-4	1.16E-4	ENSG00000137720	ENST00000260276;ENST00000530214;ENST00000530799;ENST00000529270	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.33	-5.8	0.02347	.	1.066680	0.07277	N	0.870122	T	0.10208	0.0250	N	0.16478	0.41	0.09310	N	1	B;B	0.22346	0.068;0.004	B;B	0.15484	0.013;0.002	T	0.29305	-1.0016	10	0.24483	T	0.36	3.966	1.2162	0.01915	0.361:0.0899:0.1949:0.3542	.	60;20	E9PMC1;Q9H5F2	.;CK001_HUMAN	T	20;20;36;60	ENSP00000260276:A20T;ENSP00000435864:A20T;ENSP00000432128:A36T;ENSP00000431180:A60T	ENSP00000260276:A20T	A	+	1	0	C11orf1	111258314	0.000000	0.05858	0.000000	0.03702	0.468000	0.32798	-1.306000	0.02735	-0.812000	0.04363	0.561000	0.74099	GCC	C11orf1-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000391651.1		+	ENST00000530214.1	Missense_Mutation	SNP	11 : 111753104 - 111753104 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	52
ZNF2	7549	broad.mit.edu	37	2	95847399	95847399	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95847399C>T	ENST00000453539.2	+	5	948	c.865C>T	c.(865-867)Cac>Tac	p.H289Y	ZNF2_ENST00000398107.2_Missense_Mutation_p.H234Y|ZNF2_ENST00000425369.1_Missense_Mutation_p.H196Y|ZNF2_ENST00000295210.6_Missense_Mutation_p.H238Y|ZNF2_ENST00000340539.5_Missense_Mutation_p.H276Y			Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		CCTTACTCGACACCAGAGAAT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	94	91			NA	NA	2		NA											NA				95847399		2185	4294	6479	SO:0001583	missense			X60152	CCDS42712.1, CCDS42713.1, CCDS62957.1	2q11.1	2013-09-24	2005-02-07		ENSG00000163067	ENSG00000275111	7549	7549		Zinc fingers, C2H2-type, -	12991	protein-coding gene	gene with protein product		194500	zinc finger protein 2 (A1-5)		NA	8183940, 1945843	Standard	NM_021088	NM_021088	NA	Approved	A1-5, ZNF661, Zfp661	uc002suf.3	Q9BSG1	OTTHUMG00000155150	ENST00000453539.2:c.865C>T	2.37:g.95847399C>T	ENSP00000411051:p.His289Tyr	NA	Q4ZFY6|Q96G44|Q9UMC5	37		.	.	.	.	.	.	.	.	.	.	C	24.7	4.562794	0.86335	.	.	ENSG00000163067	ENST00000398107;ENST00000340539;ENST00000425369;ENST00000295210;ENST00000453539	D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17	5.16	5.16	0.70880	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.52532	D	0.000076	D	0.95799	0.8633	H	0.96777	3.88	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	D	0.96945	0.9690	10	0.87932	D	0	-22.5568	16.1933	0.82006	0.0:1.0:0.0:0.0	.	238;234;275	B4DIR4;A8MWV7;Q9BSG1	.;.;ZNF2_HUMAN	Y	234;276;196;238;289	ENSP00000381178:H234Y;ENSP00000345392:H276Y;ENSP00000406017:H196Y;ENSP00000295210:H238Y;ENSP00000411051:H289Y	ENSP00000295210:H238Y	H	+	1	0	ZNF2	95211126	1.000000	0.71417	0.945000	0.38365	0.978000	0.69477	5.881000	0.69706	2.696000	0.92011	0.655000	0.94253	CAC	ZNF2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000338596.1		+	ENST00000453539.2	Missense_Mutation	SNP	2 : 95847399 - 95847399 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	604	98
PACS1	55690	broad.mit.edu	37	11	65988131	65988131	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65988131C>T	ENST00000320580.4	+	9	1101	c.1068C>T	c.(1066-1068)cgC>cgT	p.R356R		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	356					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						ATGTGTCCCGCGAGCAGATCC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	88	90			NA	NA	11		NA											NA				65988131		2201	4295	6496	SO:0001819	synonymous_variant			AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115	55690	55690			30032	protein-coding gene	gene with protein product		607492			NA	12855553, 14608369	Standard	NM_018026	NM_018026	NA	Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.1068C>T	11.37:g.65988131C>T		NA	Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	37	CCDS8129.1																																																																																			PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391690.2		+	ENST00000320580.4	Silent	SNP	11 : 65988131 - 65988131 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	355	54
FBXW5	54461	broad.mit.edu	37	9	139836666	139836666	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139836666G>A	ENST00000325285.3	-	6	1007	c.928C>T	c.(928-930)Ctg>Ttg	p.L310L	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	310							catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		CGCCCCTCCAGCACGCGGTCC	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	18	17			NA	NA	9		NA											NA				139836666		2173	4281	6454	SO:0001819	synonymous_variant			BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069	54461	54461		F-boxes / WD-40 domains, WD repeat domain containing	13613	protein-coding gene	gene with protein product		609072	F-box and WD-40 domain protein 5		NA		Standard	NM_018998	NM_018998	NA	Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.928C>T	9.37:g.139836666G>A		NA	B2RDZ6|Q5SPZ8|Q5SPZ9|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	37	CCDS7014.1																																																																																			FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055227.1		-	ENST00000325285.3	Silent	SNP	9 : 139836666 - 139836666 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	80	16
PCDHGA2	56113	broad.mit.edu	37	5	140719048	140719048	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140719048C>T	ENST00000394576.2	+	1	510	c.510C>T	c.(508-510)taC>taT	p.Y170Y	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1			protocadherin gamma subfamily A, 2	NA										breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAGAAGTACGCACTCAACC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	91	92			NA	NA	5		NA											NA				140719048		2203	4300	6503	SO:0001819	synonymous_variant			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853	56113	56113		Cadherins / Protocadherins : Clustered	8700	other	protocadherin		606289			NA	10380929	Standard	NM_018915	NM_018915	NA	Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.510C>T	5.37:g.140719048C>T		NA		37	CCDS47289.1																																																																																			PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374738.1		+	ENST00000394576.2	Silent	SNP	5 : 140719048 - 140719048 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	586	52
LRP1	4035	broad.mit.edu	37	12	57577893	57577893	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57577893C>A	ENST00000243077.3	+	37	6421	c.5955C>A	c.(5953-5955)ggC>ggA	p.G1985G		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1985					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAGACCAGGGCTTTGATGTCA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	61	70			NA	NA	12		NA											NA				57577893		2203	4300	6503	SO:0001819	synonymous_variant			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384	4035	4035		CD molecules, Low density lipoprotein receptors	6692	protein-coding gene	gene with protein product		107770	alpha-2-macroglobulin receptor	APR, A2MR	NA	2548950	Standard	NM_002332	NM_002332	NA	Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.5955C>A	12.37:g.57577893C>A		NA	Q2PP12|Q8IVG8	37	CCDS8932.1																																																																																			LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412772.2		+	ENST00000243077.3	Silent	SNP	12 : 57577893 - 57577893 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	42
DLGAP4	22839	broad.mit.edu	37	20	35068238	35068238	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35068238C>T	ENST00000373913.3	+	5	1803	c.1323C>T	c.(1321-1323)agC>agT	p.S441S	DLGAP4_ENST00000373907.2_Silent_p.S441S|DLGAP4_ENST00000339266.5_Silent_p.S441S|DLGAP4_ENST00000401952.2_Silent_p.S441S			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	441					cell-cell signaling	membrane	protein binding	p.S441S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCCCCGTCAGCGACAGCCTCA	0.632		NA									OREG0025903	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	endometrium(1)											76	60	66			NA	NA	20		NA											NA				35068238		2203	4300	6503	SO:0001819	synonymous_variant			AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845	22839	22839			24476	protein-coding gene	gene with protein product					NA	9115257	Standard	NM_014902	XM_005260329	NA	Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373913.3:c.1323C>T	20.37:g.35068238C>T		852	E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	37	CCDS13274.1																																																																																			DLGAP4-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079023.1		+	ENST00000373913.3	Silent	SNP	20 : 35068238 - 35068238 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	208	26
MDN1	23195	broad.mit.edu	37	6	90411377	90411377	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90411377G>T	ENST00000369393.3	-	55	8442	c.8327C>A	c.(8326-8328)aCt>aAt	p.T2776N	MDN1_ENST00000428876.1_Missense_Mutation_p.T2776N			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2776					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCTGAGACAGTCTGAACTTC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	46	45			NA	NA	6		NA											NA				90411377		2203	4300	6503	SO:0001583	missense			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159	23195	23195			18302	protein-coding gene	gene with protein product					NA	9205841, 12102729	Standard		XM_005248699	NA	Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.8327C>A	6.37:g.90411377G>T	ENSP00000358400:p.Thr2776Asn	NA	O15019|Q5T794	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.193207	0.38707	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03212	4.01;4.01	5.69	4.82	0.62117	.	0.472428	0.22787	N	0.055659	T	0.01320	0.0043	N	0.24115	0.695	0.34143	D	0.6666	P	0.34462	0.454	B	0.29785	0.107	T	0.55347	-0.8155	10	0.37606	T	0.19	.	15.042	0.71799	0.0692:0.0:0.9308:0.0	.	2776	Q9NU22	MDN1_HUMAN	N	2776	ENSP00000358400:T2776N;ENSP00000413970:T2776N	ENSP00000358400:T2776N	T	-	2	0	MDN1	90468098	1.000000	0.71417	0.534000	0.28014	0.945000	0.59286	7.045000	0.76585	1.379000	0.46325	0.585000	0.79938	ACT	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041514.2		-	ENST00000369393.3	Missense_Mutation	SNP	6 : 90411377 - 90411377 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	278	44
ZNF425	155054	broad.mit.edu	37	7	148801589	148801589	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148801589G>A	ENST00000378061.2	-	4	1506	c.1374C>T	c.(1372-1374)cgC>cgT	p.R458R		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	458					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.R458R(1)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCTGGTGGGCGCGCATGGCGT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											33	34	34			NA	NA	7		NA											NA				148801589		2203	4300	6503	SO:0001819	synonymous_variant			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947	155054	155054		Zinc fingers, C2H2-type, -	20690	protein-coding gene	gene with protein product					NA		Standard	XM_088140	NM_001001661	NA	Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1374C>T	7.37:g.148801589G>A		NA	B3KPM1|Q08AG3	37	CCDS34773.1																																																																																			ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352726.1		-	ENST00000378061.2	Silent	SNP	7 : 148801589 - 148801589 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	364	61
USP40	55230	broad.mit.edu	37	2	234436099	234436099	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234436099A>C	ENST00000251722.6	-	13	1793	c.1676T>G	c.(1675-1677)tTt>tGt	p.F559C	USP40_ENST00000427112.2_Missense_Mutation_p.F559C|USP40_ENST00000450966.1_Missense_Mutation_p.F571C			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	559					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TCTTTTATCAAAGGTCAAATC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	78	79			NA	NA	2		NA											NA				234436099		1857	4102	5959	SO:0001583	missense			AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982	55230	55230		Ubiquitin-specific peptidases	20069	protein-coding gene	gene with protein product		610570	ubiquitin specific protease 40		NA	12838346	Standard	XM_114294	NM_018218	NA	Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000251722.6:c.1676T>G	2.37:g.234436099A>C	ENSP00000251722:p.Phe559Cys	NA	Q6NX38|Q70EL0	37		.	.	.	.	.	.	.	.	.	.	A	21.0	4.086059	0.76642	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112	T;T;T	0.06068	3.35;3.36;3.36	4.96	3.75	0.43078	.	1.937410	0.01882	N	0.037909	T	0.25344	0.0616	M	0.62723	1.935	0.42061	D	0.991161	D;D	0.76494	0.999;0.999	P;D	0.66716	0.885;0.946	T	0.00009	-1.2467	10	0.87932	D	0	.	10.947	0.47306	0.8595:0.0:0.0:0.1405	.	559;571	Q9NVE5;Q9NVE5-3	UBP40_HUMAN;.	C	571;559;559	ENSP00000415434:F571C;ENSP00000251722:F559C;ENSP00000387898:F559C	ENSP00000251722:F559C	F	-	2	0	USP40	234100838	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	5.814000	0.69208	0.788000	0.33755	0.482000	0.46254	TTT	USP40-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000330042.3		-	ENST00000251722.6	Missense_Mutation	SNP	2 : 234436099 - 234436099 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	64
OR52I1	390037	broad.mit.edu	37	11	4615444	4615444	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4615444G>A	ENST00000530443.2	+	1	176	c.176G>A	c.(175-177)cGg>cAg	p.R59Q	OR52I1_ENST00000450052.2_Missense_Mutation_p.R83Q	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATTCCACTCGGCATGAGCCC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	142	150			NA	NA	11		NA											NA				4615444		2201	4298	6499	SO:0001583	missense			BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268	390037	390037		GPCR / Class A : Olfactory receptors	15220	protein-coding gene	gene with protein product					NA		Standard	NM_001005169	NM_001005169	NA	Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.176G>A	11.37:g.4615444G>A	ENSP00000436453:p.Arg59Gln	NA	Q6IF91	37	CCDS59223.1	.	.	.	.	.	.	.	.	.	.	g	7.180	0.589398	0.13812	.	.	ENSG00000232268	ENST00000450052;ENST00000530443	T;T	0.02974	4.09;4.09	4.63	2.24	0.28232	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36303	N	0.002662	T	0.01661	0.0053	N	0.08118	0	0.18873	N	0.999988	B	0.20780	0.048	B	0.12837	0.008	T	0.30851	-0.9964	9	0.87932	D	0	-0.5677	5.7199	0.17980	0.0:0.0885:0.3218:0.5897	.	59	Q8NGK6	O52I1_HUMAN	Q	83;59	ENSP00000409094:R83Q;ENSP00000436453:R59Q	ENSP00000409094:R83Q	R	+	2	0	OR52I1	4572020	0.042000	0.20092	0.689000	0.30133	0.062000	0.15995	0.900000	0.28431	0.022000	0.15160	-2.279000	0.00272	CGG	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385947.2		+	ENST00000530443.2	Missense_Mutation	SNP	11 : 4615444 - 4615444 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1032	214
WDSUB1	151525	broad.mit.edu	37	2	160112844	160112844	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160112844C>T	ENST00000409124.1	-	9	1105	c.995G>A	c.(994-996)tGg>tAg	p.W332*	WDSUB1_ENST00000392796.3_Nonsense_Mutation_p.W332*|WDSUB1_ENST00000359774.4_Nonsense_Mutation_p.W332*|WDSUB1_ENST00000358147.4_Nonsense_Mutation_p.W240*|WDSUB1_ENST00000409990.3_Nonsense_Mutation_p.W332*			Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	332	SAM.					ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						CTCCTCTGACCAATCTTCGGT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	99	100			NA	NA	2		NA											NA				160112844		2203	4300	6503	SO:0001587	stop_gained			AK093494	CCDS2208.1	2q24.2	2013-01-28	2006-02-17	2005-03-25	ENSG00000196151	ENSG00000196151	151525	151525		WD repeat domain containing, Sterile alpha motif (SAM) domain containing, U-box domain containing	26697	protein-coding gene	gene with protein product			WD repeat and SAM domain containing 1, WD repeat, SAM and U-box domain containing 1	WDSAM1	NA	12477932	Standard	NM_152528	NM_152528	NA	Approved	UBOX6, FLJ36175	uc002ual.4	Q8N9V3	OTTHUMG00000132028	ENST00000409124.1:c.995G>A	2.37:g.160112844C>T	ENSP00000386891:p.Trp332*	NA	Q53TI9|Q8N6N8	37		.	.	.	.	.	.	.	.	.	.	C	38	6.809114	0.97853	.	.	ENSG00000196151	ENST00000359774;ENST00000358147;ENST00000392796;ENST00000409990;ENST00000409124	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9615	0.97252	0.0:1.0:0.0:0.0	.	.	.	.	X	332;240;332;332;332	.	ENSP00000350866:W240X	W	-	2	0	WDSUB1	159821090	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.354000	0.79424	2.713000	0.92767	0.655000	0.94253	TGG	WDSUB1-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000333337.1		-	ENST00000409124.1	Nonsense_Mutation	SNP	2 : 160112844 - 160112844 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	334	73
ENTPD6	955	broad.mit.edu	37	20	25205943	25205943	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25205943A>G	ENST00000360031.2	+	14	1525	c.1343A>G	c.(1342-1344)aAa>aGa	p.K448R	ENTPD6_ENST00000354989.5_Missense_Mutation_p.K432R|ENTPD6_ENST00000433259.2_Silent_p.Q429Q|ENTPD6_ENST00000376652.4_Missense_Mutation_p.K449R|ENTPD6_ENST00000485936.1_3'UTR	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	449						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CCCAGGAGCAAAGTGCTGAAG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	77	87			NA	NA	20		NA											NA				25205943		2203	4300	6503	SO:0001583	missense			AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586	NA	955			3368	protein-coding gene	gene with protein product		603160	interleukin 6 signal transducer-2	CD39L2, IL6ST2	NA	9676430	Standard		NM_001247	NA	Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000360031.2:c.1343A>G	20.37:g.25205943A>G	ENSP00000353131:p.Lys448Arg	NA	Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.36|13.36	2.213574|2.213574	0.39102|0.39102	.|.	.|.	ENSG00000197586|ENSG00000197586	ENST00000447877;ENST00000376666|ENST00000354989;ENST00000360031;ENST00000376652	T|T;T;T	0.24538|0.11604	1.85|2.76;2.76;2.76	5.76|5.76	4.66|4.66	0.58398|0.58398	.|.	0.146358|0.146358	0.64402|0.64402	D|N	0.000014|0.000014	T|T	0.06917|0.06917	0.0176|0.0176	N|N	0.12961|0.12961	0.28|0.28	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.29188	.|0.024;0.02;0.236;0.236	.|B;B;B;B	.|0.34590	.|0.056;0.029;0.186;0.186	T|T	0.36986|0.36986	-0.9725|-0.9725	7|10	.|0.12430	.|T	.|0.62	-13.8871|-13.8871	9.6271|9.6271	0.39757|0.39757	0.9198:0.0:0.0802:0.0|0.9198:0.0:0.0802:0.0	.|.	.|197;432;448;449	.|B4DHS2;O75354-2;Q5QPJ2;O75354	.|.;.;.;ENTP6_HUMAN	E|R	308;287|432;448;449	ENSP00000406975:K308E|ENSP00000347084:K432R;ENSP00000353131:K448R;ENSP00000365840:K449R	.|ENSP00000347084:K432R	K|K	+|+	1|2	0|0	ENTPD6|ENTPD6	25153943|25153943	1.000000|1.000000	0.71417|0.71417	0.867000|0.867000	0.34043|0.34043	0.741000|0.741000	0.42261|0.42261	3.715000|3.715000	0.54897|0.54897	0.988000|0.988000	0.38734|0.38734	0.460000|0.460000	0.39030|0.39030	AAG|AAA	ENTPD6-005	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000078399.2		+	ENST00000360031.2	Missense_Mutation	SNP	20 : 25205943 - 25205943 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	161	25
TSEN2	80746	broad.mit.edu	37	3	12570396	12570396	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12570396G>A	ENST00000284995.6	+	9	1496	c.1109G>A	c.(1108-1110)cGg>cAg	p.R370Q	C3orf83_ENST00000567514.1_Intron|TSEN2_ENST00000415684.1_Missense_Mutation_p.R344Q|TSEN2_ENST00000383797.5_Missense_Mutation_p.R353Q|TSEN2_ENST00000444864.1_Missense_Mutation_p.R344Q|TSEN2_ENST00000314571.7_Missense_Mutation_p.R344Q|TSEN2_ENST00000402228.3_Missense_Mutation_p.R370Q|TSEN2_ENST00000454502.2_Missense_Mutation_p.R311Q	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	370					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						GTGCTATATCGGAAAGGCCCT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	117	117			NA	NA	3		NA											NA				12570396		2203	4300	6503	SO:0001583	missense			BC019582	CCDS2611.1, CCDS46757.1, CCDS46758.1, CCDS46759.1	3p25.2	2013-08-06	2013-08-06		ENSG00000154743	ENSG00000154743	80746	80746		tRNA splicing endonuclease subunits	28422	protein-coding gene	gene with protein product		608753	tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae), tRNA splicing endonuclease 2 homolog (S. cerevisiae)		NA	15109492	Standard	NM_025265	NM_025265	NA	Approved	SEN2, SEN2L, MGC2776	uc003bxb.3	Q8NCE0	OTTHUMG00000129765	ENST00000284995.6:c.1109G>A	3.37:g.12570396G>A	ENSP00000284995:p.Arg370Gln	NA	Q8WTW7|Q9BPU7	37	CCDS2611.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038279	0.75617	.	.	ENSG00000154743	ENST00000446004;ENST00000314571;ENST00000454502;ENST00000383797;ENST00000402228;ENST00000284995;ENST00000444864;ENST00000537959;ENST00000415684	T;T;T;T;T;T;T;T	0.57436	0.4;0.53;0.49;0.46;0.45;0.45;0.49;0.53	5.92	5.92	0.95590	tRNA intron endonuclease, catalytic domain-like (2);Endonuclease TnsA, N-terminal/resolvase Hjc/tRNA endonuclease, C-terminal (1);	0.060440	0.64402	D	0.000004	T	0.48429	0.1499	L	0.38649	1.16	0.80722	D	1	B;B;B;B	0.25850	0.136;0.022;0.072;0.052	B;B;B;B	0.29176	0.099;0.064;0.079;0.043	T	0.33163	-0.9879	10	0.36615	T	0.2	-23.2315	19.0928	0.93235	0.0:0.0:1.0:0.0	.	344;370;344;311	G5E9Q3;Q8NCE0;Q8NCE0-3;C9IZI7	.;SEN2_HUMAN;.;.	Q	370;344;311;353;370;370;344;343;344	ENSP00000406238:R370Q;ENSP00000323188:R344Q;ENSP00000392029:R311Q;ENSP00000373307:R353Q;ENSP00000385976:R370Q;ENSP00000284995:R370Q;ENSP00000407974:R344Q;ENSP00000416510:R344Q	ENSP00000284995:R370Q	R	+	2	0	TSEN2	12545396	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.489000	0.73641	2.810000	0.96702	0.650000	0.86243	CGG	TSEN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251981.1		+	ENST00000284995.6	Missense_Mutation	SNP	3 : 12570396 - 12570396 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	497	83
BRPF3	27154	broad.mit.edu	37	6	36185729	36185729	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36185729G>A	ENST00000357641.6	+	9	3278	c.3025G>A	c.(3025-3027)Ggg>Agg	p.G1009R	BRPF3_ENST00000543502.1_Missense_Mutation_p.G739R|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000534400.1_Missense_Mutation_p.G1009R|BRPF3_ENST00000339717.7_Missense_Mutation_p.G739R|BRPF3_ENST00000443324.2_Intron	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	1009					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	p.G1009W(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CACCGAAAGCGGGTCTGACTC	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)											180	146	157			NA	NA	6		NA											NA				36185729		2203	4300	6503	SO:0001583	missense			AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070	27154	27154			14256	protein-coding gene	gene with protein product					NA	10574462	Standard	NM_015695	NM_015695	NA	Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.3025G>A	6.37:g.36185729G>A	ENSP00000350267:p.Gly1009Arg	NA	A6NJE2|Q5R3K8	37	CCDS34437.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.86|14.86	2.660639|2.660639	0.47572|0.47572	.|.	.|.	ENSG00000096070|ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000543502;ENST00000534400|ENST00000394572	T;T;T;T|.	0.17691|.	2.47;2.26;2.26;2.3|.	6.05|6.05	6.05|6.05	0.98169|0.98169	.|.	0.311404|.	0.35970|.	N|.	0.002867|.	T|T	0.48554|0.48554	0.1506|0.1506	N|N	0.20401|0.20401	0.57|0.57	0.80722|0.80722	D|D	1|1	P;D|.	0.76494|.	0.474;0.999|.	B;D|.	0.62955|.	0.124;0.909|.	T|T	0.48222|0.48222	-0.9054|-0.9054	10|6	0.12766|0.42905	T|T	0.61|0.14	.|.	20.1963|20.1963	0.98243|0.98243	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	739;1009|.	Q17RB6;Q9ULD4|.	.;BRPF3_HUMAN|.	R|Q	1009;739;739;1009|422	ENSP00000350267:G1009R;ENSP00000345419:G739R;ENSP00000445352:G739R;ENSP00000436504:G1009R|.	ENSP00000345419:G739R|ENSP00000378073:R422Q	G|R	+|+	1|2	0|0	BRPF3|BRPF3	36293707|36293707	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.998000|4.998000	0.63927|0.63927	2.878000|2.878000	0.98634|0.98634	0.650000|0.650000	0.86243|0.86243	GGG|CGG	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040335.3		+	ENST00000357641.6	Missense_Mutation	SNP	6 : 36185729 - 36185729 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	68
CDK8	1024	broad.mit.edu	37	13	26828901	26828901	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:26828901A>C	ENST00000381527.3	+	1	626	c.123A>C	c.(121-123)aaA>aaC	p.K41N	CDK8_ENST00000536792.1_Missense_Mutation_p.K41N	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	41	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		CCAAGAGGAAAGATGGGTGAG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	137	141			NA	NA	13		NA											NA				26828901		2203	4300	6503	SO:0001583	missense			X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964	1024	1024		Cyclin-dependent kinases	1779	protein-coding gene	gene with protein product		603184			NA	7568034	Standard		NM_001260	NA	Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.123A>C	13.37:g.26828901A>C	ENSP00000370938:p.Lys41Asn	NA	Q5VUF3|Q6ISB5	37	CCDS9317.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.125293	0.77436	.	.	ENSG00000132964	ENST00000381527;ENST00000536792	T;T	0.66995	-0.24;-0.24	5.25	1.14	0.20703	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050124	0.85682	D	0.000000	T	0.72930	0.3522	L	0.53617	1.68	0.58432	D	0.999999	D;D	0.63046	0.991;0.992	P;D	0.66351	0.905;0.943	T	0.72117	-0.4387	10	0.87932	D	0	-8.8879	9.6921	0.40134	0.6975:0.0:0.3025:0.0	.	41;41	P49336-2;P49336	.;CDK8_HUMAN	N	41	ENSP00000370938:K41N;ENSP00000437696:K41N	ENSP00000370938:K41N	K	+	3	2	CDK8	25726901	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.984000	0.40658	0.245000	0.21373	0.459000	0.35465	AAA	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044250.1		+	ENST00000381527.3	Missense_Mutation	SNP	13 : 26828901 - 26828901 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	191	29
TMEM55A	55529	broad.mit.edu	37	8	92033488	92033488	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:92033488G>A	ENST00000285419.3	-	2	565	c.251C>T	c.(250-252)gCt>gTt	p.A84V		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	84						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			ACTTACCGTAGCTTCATTGCA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	88	91			NA	NA	8		NA											NA				92033488		2203	4300	6503	SO:0001583	missense			BC033892	CCDS6252.1	8q21.3	2005-08-09			ENSG00000155099	ENSG00000155099	55529	55529			25452	protein-coding gene	gene with protein product		609864			NA	12477932	Standard	NM_018710	NM_018710	NA	Approved	DKFZp762O076	uc003yes.3	Q8N4L2	OTTHUMG00000164019	ENST00000285419.3:c.251C>T	8.37:g.92033488G>A	ENSP00000285419:p.Ala84Val	NA	B2R9H4|Q68CU2	37	CCDS6252.1	.	.	.	.	.	.	.	.	.	.	G	35	5.467683	0.96257	.	.	ENSG00000155099	ENST00000285419;ENST00000520014	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.76695	0.4023	L	0.54323	1.7	0.80722	D	1	D	0.69078	0.997	D	0.74348	0.983	T	0.75363	-0.3344	9	0.54805	T	0.06	-7.6323	19.8946	0.96949	0.0:0.0:1.0:0.0	.	84	Q8N4L2	TM55A_HUMAN	V	84;90	.	ENSP00000285419:A84V	A	-	2	0	TMEM55A	92102664	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.263000	0.95617	2.937000	0.99478	0.650000	0.86243	GCT	TMEM55A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376778.1		-	ENST00000285419.3	Missense_Mutation	SNP	8 : 92033488 - 92033488 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	380	74
PDPR	55066	broad.mit.edu	37	16	70190411	70190411	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70190411C>T	ENST00000288050.4	+	19	3226	c.2269C>T	c.(2269-2271)Cag>Tag	p.Q757*	PDPR_ENST00000562100.1_3'UTR|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000542659.1_Nonsense_Mutation_p.Q102*|PDPR_ENST00000568530.1_Nonsense_Mutation_p.Q757*|PDPR_ENST00000398122.3_Nonsense_Mutation_p.Q657*|PDPR_ENST00000567046.1_Nonsense_Mutation_p.Q115*	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	757					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CGCCCTCCTGCAGCAGAAGCA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	153	148			NA	NA	16		NA											NA				70190411		2079	4225	6304	SO:0001587	stop_gained				CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857	55066	55066			30264	protein-coding gene	gene with protein product					NA	9395502	Standard	NM_017990	NM_017990	NA	Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.2269C>T	16.37:g.70190411C>T	ENSP00000288050:p.Gln757*	NA	A7E298|A8K8Y7|Q6AI20|Q6AWC9	37	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569369	0.28003	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000205055;ENST00000542659	.	.	.	6.03	5.05	0.67936	.	0.464135	0.24764	N	0.035792	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	9.8745	0.41195	0.2471:0.6157:0.1372:0.0	.	.	.	.	X	757;657;424;102	.	ENSP00000205055:Q424X	Q	+	1	0	PDPR	68747912	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	1.617000	0.36943	2.868000	0.98415	0.557000	0.71058	CAG	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434502.1		+	ENST00000288050.4	Nonsense_Mutation	SNP	16 : 70190411 - 70190411 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	700	82
RASAL2	9462	broad.mit.edu	37	1	178442279	178442279	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178442279C>T	ENST00000462775.1	+	16	3450	c.3325C>T	c.(3325-3327)Cgg>Tgg	p.R1109W	RASAL2_ENST00000448150.3_Missense_Mutation_p.R1239W|RASAL2_ENST00000367649.3_Missense_Mutation_p.R1250W	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	1109					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.R1250W(1)|p.R1239W(1)|p.R1109W(1)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AGTGAAGGAGCGGTACAGCAT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				3	Substitution - Missense(3)	lung(3)											180	152	161			NA	NA	1		NA											NA				178442279		2203	4300	6503	SO:0001583	missense			AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391	9462	9462		Pleckstrin homology (PH) domain containing	9874	protein-coding gene	gene with protein product	Ras GTPase activating protein-like, Ras protein activator like 1	606136			NA	9877179	Standard	NM_170692	NM_004841	NA	Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.3325C>T	1.37:g.178442279C>T	ENSP00000420558:p.Arg1109Trp	NA	O95174|Q5TFU9	37	CCDS1322.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.6|26.6	4.755894|4.755894	0.89843|0.89843	.|.	.|.	ENSG00000075391|ENSG00000075391	ENST00000367647|ENST00000448150;ENST00000367649;ENST00000462775	.|T;T;T	.|0.17691	.|2.26;2.26;2.26	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.46092|0.46092	0.1375|0.1375	M|M	0.75777|0.75777	2.31|2.31	0.80722|0.80722	D|D	1|1	.|D;P	.|0.89917	.|1.0;0.919	.|D;B	.|0.91635	.|0.999;0.27	T|T	0.37865|0.37865	-0.9687|-0.9687	6|10	0.87932|0.87932	D|D	0|0	.|.	19.635|19.635	0.95728|0.95728	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1109;1250	.|Q9UJF2;F8W755	.|NGAP_HUMAN;.	V|W	62|1239;1250;1109	.|ENSP00000407768:R1239W;ENSP00000356621:R1250W;ENSP00000420558:R1109W	ENSP00000356619:A62V|ENSP00000356621:R1250W	A|R	+|+	2|1	0|2	RASAL2|RASAL2	176708902|176708902	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.711000|7.711000	0.84669|0.84669	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	GCG|CGG	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084758.3		+	ENST00000462775.1	Missense_Mutation	SNP	1 : 178442279 - 178442279 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	573	89
RUSC2	9853	broad.mit.edu	37	9	35548220	35548220	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35548220G>A	ENST00000455600.1	+	2	2271	c.1702G>A	c.(1702-1704)Gac>Aac	p.D568N		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	568						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GAGTGTTGGGGACTCCTCCCA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	24	23			NA	NA	9		NA											NA				35548220		2203	4300	6503	SO:0001583	missense			AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853	9853	9853			23625	protein-coding gene	gene with protein product		611053			NA	9205841	Standard	XM_048462	NM_001135999	NA	Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.1702G>A	9.37:g.35548220G>A	ENSP00000393922:p.Asp568Asn	NA	A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	37	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125658	0.77436	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.26957	1.7;1.7	5.86	5.86	0.93980	.	0.184440	0.47852	D	0.000209	T	0.42517	0.1206	L	0.29908	0.895	0.47862	D	0.99953	D	0.89917	1.0	D	0.83275	0.996	T	0.19745	-1.0296	10	0.59425	D	0.04	-21.526	19.1701	0.93574	0.0:0.0:1.0:0.0	.	568	Q8N2Y8	RUSC2_HUMAN	N	568	ENSP00000355177:D568N;ENSP00000393922:D568N	ENSP00000355177:D568N	D	+	1	0	RUSC2	35538220	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	6.601000	0.74136	2.777000	0.95525	0.655000	0.94253	GAC	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052309.1		+	ENST00000455600.1	Missense_Mutation	SNP	9 : 35548220 - 35548220 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	179	25
NFATC1	4772	broad.mit.edu	37	18	77171438	77171438	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77171438C>T	ENST00000587635.1	+	2	1257	c.1163C>T	c.(1162-1164)gCg>gTg	p.A388V	NFATC1_ENST00000427363.2_Missense_Mutation_p.A388V|NFATC1_ENST00000318065.5_Missense_Mutation_p.A375V|NFATC1_ENST00000586434.1_Missense_Mutation_p.A375V|NFATC1_ENST00000592223.1_Missense_Mutation_p.A375V|NFATC1_ENST00000542384.1_Missense_Mutation_p.A388V|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000591814.1_Missense_Mutation_p.A388V|NFATC1_ENST00000329101.4_Missense_Mutation_p.A375V|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000253506.5_Missense_Mutation_p.A388V			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	388					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CAGTACCTGGCGGTGCCGCAG	0.706		NA											C	1	5e-04	0.002	NA	2184	NA	0.9985	,	,	NA	7e-04	NA	NA	NA	0.0012	0.4506	EXOME	NA	NA	0.0026	SNP	GBM(151;1210 2593 28719 45011)							NA				0								C	VAL/ALA,VAL/ALA,,VAL/ALA,VAL/ALA	0,4378		0,0,2189	13	15	14		1163,1124,,1124,1163	4.8	0.7	18		14	1,8539		0,1,4269	no	missense,missense,intron,missense,missense	NFATC1	NM_006162.3,NM_172387.1,NM_172388.1,NM_172389.1,NM_172390.1	64,64,,64,64	0,1,6458	TT,TC,CC	NA	0.0117,0.0,0.0077	benign,benign,,benign,benign	388/826,375/931,,375/813,388/717	77171438	1,12917	2189	4270	6459	SO:0001583	missense			U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196	4772	4772		Nuclear factor of activated T-cells	7775	protein-coding gene	gene with protein product		600489			NA	8202141	Standard	NM_172390	NM_001278669	NA	Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000587635.1:c.1163C>T	18.37:g.77171438C>T	ENSP00000468111:p.Ala388Val	NA	Q12865|Q15793	37		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.93	1.489050	0.26686	0.0	1.17E-4	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T	0.14640	2.89;2.49;2.72	4.81	4.81	0.61882	.	0.320352	0.33364	N	0.004996	T	0.06826	0.0174	N	0.14661	0.345	0.80722	D	1	P;P;P;P;P;P;P	0.39782	0.688;0.688;0.688;0.477;0.477;0.624;0.688	B;B;B;B;B;B;B	0.27500	0.08;0.08;0.05;0.08;0.08;0.067;0.05	T	0.33240	-0.9876	10	0.08179	T	0.78	-15.3254	18.0734	0.89419	0.0:1.0:0.0:0.0	.	375;375;388;388;388;375;388	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	V	388;388;388;375;375;352	ENSP00000253506:A388V;ENSP00000442435:A388V;ENSP00000327850:A375V	ENSP00000253506:A388V	A	+	2	0	NFATC1	75272426	1.000000	0.71417	0.716000	0.30569	0.700000	0.40528	4.620000	0.61226	2.497000	0.84241	0.591000	0.81541	GCG	NFATC1-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000450505.1		+	ENST00000587635.1	Missense_Mutation	SNP	18 : 77171438 - 77171438 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	182	41
PIK3CD	5293	broad.mit.edu	37	1	9781553	9781553	+	Silent	SNP	C	C	T	rs151235777	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9781553C>T	ENST00000377346.4	+	15	2058	c.1863C>T	c.(1861-1863)taC>taT	p.Y621Y	PIK3CD_ENST00000536656.1_Silent_p.Y645Y|PIK3CD_ENST00000543390.1_Silent_p.Y288Y|PIK3CD_ENST00000361110.2_Silent_p.Y645Y	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	621					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		TGCTCAAGTACGAGTCCTACC	0.632		NA											C	1	5e-04	NA	0.0028	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9135	EXOME	NA	NA	7e-04	SNP								NA				0								C		1,4405	2.1+/-5.4	0,1,2202	58	57	57		1863	-1.6	0.9	1	dbSNP_134	57	26,8574	18.5+/-59.3	0,26,4274	no	coding-synonymous	PIK3CD	NM_005026.3		0,27,6476	TT,TC,CC	NA	0.3023,0.0227,0.2076		621/1045	9781553	27,12979	2203	4300	6503	SO:0001819	synonymous_variant				CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	5293	5293	2.7.1.153		8977	protein-coding gene	gene with protein product	phosphatidylinositol 3-kinase, catalytic, delta polypeptide, phosphoinositide-3-kinase C	602839	phosphoinositide-3-kinase, catalytic, delta polypeptide		NA	9113989, 9455486	Standard	NM_005026	NM_005026	NA	Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.1863C>T	1.37:g.9781553C>T		NA	A6NCG0|O15445|Q5SR49	37	CCDS104.1																																																																																			PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000004235.1		+	ENST00000377346.4	Silent	SNP	1 : 9781553 - 9781553 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	224	47
SEPT8	23176	broad.mit.edu	37	5	132097246	132097246	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:132097246C>T	ENST00000378721.4	-	7	960	c.860G>A	c.(859-861)cGc>cAc	p.R287H	SEPT8_ENST00000296873.7_Missense_Mutation_p.R289H|SEPT8_ENST00000448933.1_Missense_Mutation_p.R229H|SEPT8_ENST00000378701.1_Missense_Mutation_p.R287H|SEPT8_ENST00000378706.1_Missense_Mutation_p.R289H|SEPT8_ENST00000378719.2_Missense_Mutation_p.R289H|SEPT8_ENST00000378699.2_Missense_Mutation_p.R229H|SEPT8_ENST00000458488.2_Missense_Mutation_p.R289H			Q92599	SEPT8_HUMAN	septin 8	289					cell cycle	septin complex	GTP binding|protein binding		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGTCTGCTCGCGGAGGTCTTC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	74	71			NA	NA	5		NA											NA				132097246		2191	4295	6486	SO:0001583	missense			AF179995	CCDS43358.1, CCDS43359.1, CCDS43360.1, CCDS47262.1, CCDS75298.1	5q31	2013-01-21			ENSG00000164402	ENSG00000164402	23176	23176		Septins	16511	protein-coding gene	gene with protein product		608418			NA	9039502, 9149945	Standard	XM_034872	NM_001098812	NA	Approved	KIAA0202, SEP2	uc003kxr.2	Q92599	OTTHUMG00000059735	ENST00000378721.4:c.860G>A	5.37:g.132097246C>T	ENSP00000367993:p.Arg287His	NA	A6NC65|A6NKP6|Q8IX36|Q8IX37|Q9BVB3	37		.	.	.	.	.	.	.	.	.	.	C	24.3	4.514590	0.85389	.	.	ENSG00000164402	ENST00000378719;ENST00000378721;ENST00000296873;ENST00000448933;ENST00000378706;ENST00000378699;ENST00000378701;ENST00000458488	D;D;D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.28	3.49	0.39957	.	0.053680	0.64402	D	0.000001	D	0.91942	0.7448	M	0.92268	3.29	0.51767	D	0.999931	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.996;1.0	D	0.91599	0.5293	10	0.87932	D	0	.	9.9392	0.41570	0.1392:0.7891:0.0:0.0717	.	287;287;289;289	B7ZVZ1;A6NFQ9;F6W7K9;Q92599	.;.;.;SEPT8_HUMAN	H	289;287;289;229;289;229;287;289	ENSP00000367991:R289H;ENSP00000367993:R287H;ENSP00000296873:R289H;ENSP00000399840:R229H;ENSP00000367978:R289H;ENSP00000367971:R229H;ENSP00000367973:R287H;ENSP00000394766:R289H	ENSP00000296873:R289H	R	-	2	0	SEPT8	132125145	1.000000	0.71417	0.546000	0.28166	0.863000	0.49368	6.089000	0.71384	0.606000	0.29965	0.561000	0.74099	CGC	SEPT8-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000132831.2		-	ENST00000378721.4	Missense_Mutation	SNP	5 : 132097246 - 132097246 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	389	73
ZBTB38	253461	broad.mit.edu	37	3	141163596	141163596	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141163596C>T	ENST00000514251.1	+	4	2645	c.2366C>T	c.(2365-2367)cCg>cTg	p.P789L	ZBTB38_ENST00000441582.2_Missense_Mutation_p.P789L|ZBTB38_ENST00000321464.5_Missense_Mutation_p.P790L			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	789					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GGAGAAATACCGGAGGAGTCA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	53	54			NA	NA	3		NA											NA				141163596		1861	4103	5964	SO:0001583	missense			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311	253461	253461		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	26636	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 171	612218			NA	12477932	Standard		NM_001080412	NA	Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2366C>T	3.37:g.141163596C>T	ENSP00000426387:p.Pro789Leu	NA	D3DNF6	37	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	C	0.223	-1.027271	0.02045	.	.	ENSG00000177311	ENST00000514251;ENST00000441582;ENST00000321464	T;T;T	0.08370	3.1;3.1;3.1	5.33	3.29	0.37713	.	1.066810	0.07311	N	0.875850	T	0.04907	0.0132	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40040	-0.9584	9	.	.	.	-0.1081	8.7571	0.34652	0.0:0.7163:0.0:0.2837	.	790;789	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	L	789;789;790	ENSP00000426387:P789L;ENSP00000406955:P789L;ENSP00000372635:P790L	.	P	+	2	0	ZBTB38	142646286	0.006000	0.16342	0.265000	0.24526	0.304000	0.27724	1.585000	0.36600	1.255000	0.44051	-0.143000	0.13931	CCG	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359329.2		+	ENST00000514251.1	Missense_Mutation	SNP	3 : 141163596 - 141163596 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	239	45
ITIH5	80760	broad.mit.edu	37	10	7683960	7683960	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7683960C>T	ENST00000256861.6	-	3	307	c.229G>A	c.(229-231)Gct>Act	p.A77T	ITIH5_ENST00000397145.2_Missense_Mutation_p.A77T|ITIH5_ENST00000397146.2_Missense_Mutation_p.A77T|ITIH5_ENST00000446830.2_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	77	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TCTTCAGAAGCTCTGTTCAGC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	137	144			NA	NA	10		NA											NA				7683960		2203	4300	6503	SO:0001583	missense					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243	80760	80760			21449	protein-coding gene	gene with protein product		609783	inter-alpha (globulin) inhibitor H5		NA	14744536	Standard	NM_030569	NM_001001851	NA	Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.229G>A	10.37:g.7683960C>T	ENSP00000256861:p.Ala77Thr	NA	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	37		.	.	.	.	.	.	.	.	.	.	C	15.61	2.884008	0.51908	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000397145	T;T;T	0.24723	1.84;1.84;1.84	5.71	5.71	0.89125	Vault protein inter-alpha-trypsin (2);	0.494258	0.24231	N	0.040348	T	0.42449	0.1203	.	.	.	0.30257	N	0.793545	P;P	0.49447	0.744;0.924	B;P	0.51945	0.281;0.685	T	0.34453	-0.9828	9	0.59425	D	0.04	-9.8768	19.8445	0.96703	0.0:1.0:0.0:0.0	.	77;77	G5E9D8;Q86UX2	.;ITIH5_HUMAN	T	77	ENSP00000256861:A77T;ENSP00000380333:A77T;ENSP00000380332:A77T	ENSP00000256861:A77T	A	-	1	0	ITIH5	7723966	0.929000	0.31497	0.911000	0.35937	0.038000	0.13279	3.230000	0.51286	2.695000	0.91970	0.462000	0.41574	GCT	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000046688.1		-	ENST00000256861.6	Missense_Mutation	SNP	10 : 7683960 - 7683960 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	471	85
CIDEA	1149	broad.mit.edu	37	18	12264367	12264367	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12264367C>T	ENST00000320477.9	+	3	310	c.245C>T	c.(244-246)aCc>aTc	p.T82I	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	82	CIDE-N.				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						GAAGATGGCACCGTGGTGGAC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	132	142			NA	NA	18		NA											NA				12264367		2203	4300	6503	SO:0001583	missense			AF041378	CCDS11856.1	18p11.21	2008-08-01			ENSG00000176194	ENSG00000176194	1149	1149			1976	protein-coding gene	gene with protein product		604440			NA	9564035, 18509062	Standard	NM_001279	NM_001279	NA	Approved	CIDE-A	uc002kqt.4	O60543	OTTHUMG00000131691	ENST00000320477.9:c.245C>T	18.37:g.12264367C>T	ENSP00000320209:p.Thr82Ile	NA	B0YIY7|Q6UPR7	37	CCDS11856.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.967822	0.92855	.	.	ENSG00000176194	ENST00000320477	T	0.61392	0.11	5.26	5.26	0.73747	Caspase-activated nuclease CIDE-N (3);	0.000000	0.85682	D	0.000000	D	0.82332	0.5014	M	0.92412	3.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86880	0.2041	10	0.87932	D	0	-27.0824	18.486	0.90830	0.0:1.0:0.0:0.0	.	116;82	Q8N5P9;O60543	.;CIDEA_HUMAN	I	82	ENSP00000320209:T82I	ENSP00000320209:T82I	T	+	2	0	CIDEA	12254367	1.000000	0.71417	0.894000	0.35097	0.990000	0.78478	6.885000	0.75606	2.455000	0.83008	0.484000	0.47621	ACC	CIDEA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254599.2		+	ENST00000320477.9	Missense_Mutation	SNP	18 : 12264367 - 12264367 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	343	57
GJA3	2700	broad.mit.edu	37	13	20717197	20717197	+	Missense_Mutation	SNP	G	G	T	rs143508620		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20717197G>T	ENST00000241125.3	-	2	407	c.231C>A	c.(229-231)ttC>ttA	p.F77L		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	77					cell-cell signaling|visual perception	connexon complex|integral to membrane				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		GCAGCGCCCAGAAGCGGATGT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	85	88			NA	NA	13		NA											NA				20717197		2203	4300	6503	SO:0001583	missense			AF075290	CCDS9289.1	13q12.11	2008-02-05	2007-01-16		ENSG00000121743	ENSG00000121743	2700	2700		Ion channels / Gap junction proteins (connexins)	4277	protein-coding gene	gene with protein product	connexin 46	121015	gap junction protein, alpha 3, 46kD (connexin 46), gap junction protein, alpha 3, 46kDa (connexin 46)	CZP3	NA	10205266, 7342922	Standard	NM_021954	NM_021954	NA	Approved	CX46	uc001umx.1	Q9Y6H8	OTTHUMG00000016510	ENST00000241125.3:c.231C>A	13.37:g.20717197G>T	ENSP00000241125:p.Phe77Leu	NA	Q0VAB7|Q9H537	37	CCDS9289.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665471	0.67700	.	.	ENSG00000121743	ENST00000241125	D	0.99167	-5.51	5.36	5.36	0.76844	Connexin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96938	0.9000	N	0.19112	0.55	0.80722	D	1	P	0.36974	0.576	B	0.40329	0.326	D	0.96893	0.9654	10	0.19590	T	0.45	.	19.094	0.93242	0.0:0.0:1.0:0.0	.	77	Q9Y6H8	CXA3_HUMAN	L	77	ENSP00000241125:F77L	ENSP00000241125:F77L	F	-	3	2	GJA3	19615197	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.735000	0.98825	2.517000	0.84864	0.561000	0.74099	TTC	GJA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044059.3		-	ENST00000241125.3	Missense_Mutation	SNP	13 : 20717197 - 20717197 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	146	24
HTR1F	3355	broad.mit.edu	37	3	88040023	88040023	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:88040023T>C	ENST00000319595.4	+	1	178	c.124T>C	c.(124-126)Tcc>Ccc	p.S42P		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	42					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	AACTATCAACTCCCTTGTGAT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	154	157			NA	NA	3		NA											NA				88040023		2203	4300	6503	SO:0001583	missense			L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097	3355	3355		5-HT (serotonin) receptors, GPCR / Class A : 5-HT (serotonin) receptors, GPCR only	5292	protein-coding gene	gene with protein product		182134	5-hydroxytryptamine (serotonin) receptor 1F		NA	8384716, 8380639	Standard	NM_000866	NM_000866	NA	Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.124T>C	3.37:g.88040023T>C	ENSP00000322924:p.Ser42Pro	NA		37	CCDS2920.1	.	.	.	.	.	.	.	.	.	.	T	17.97	3.517643	0.64634	.	.	ENSG00000179097	ENST00000319595	T	0.39056	1.1	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.053859	0.85682	D	0.000000	T	0.55832	0.1945	M	0.80982	2.52	0.39807	D	0.972652	D	0.54397	0.966	P	0.50231	0.635	T	0.65401	-0.6177	10	0.66056	D	0.02	.	13.5477	0.61713	0.0:0.0:0.0:1.0	.	42	P30939	5HT1F_HUMAN	P	42	ENSP00000322924:S42P	ENSP00000322924:S42P	S	+	1	0	HTR1F	88122713	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	6.145000	0.71769	2.100000	0.63781	0.477000	0.44152	TCC	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352890.1		+	ENST00000319595.4	Missense_Mutation	SNP	3 : 88040023 - 88040023 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	878	94
RASA3	22821	broad.mit.edu	37	13	114795310	114795310	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114795310G>A	ENST00000334062.7	-	5	547	c.426C>T	c.(424-426)gtC>gtT	p.V142V	RASA3_ENST00000389544.4_Silent_p.V110V|RASA3_ENST00000542651.1_Missense_Mutation_p.R111C	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	142	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TGTGGCAGACGACCCCAGTGT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	71	88			NA	NA	13		NA											NA				114795310		2200	4297	6497	SO:0001819	synonymous_variant				CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989	22821	22821		Pleckstrin homology (PH) domain containing	20331	protein-coding gene	gene with protein product		605182			NA	7637787, 9382842	Standard	NM_007368	NM_007368	NA	Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.426C>T	13.37:g.114795310G>A		NA	A6NL15|Q8IUY2	37	CCDS32016.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.275872	0.40294	.	.	ENSG00000185989	ENST00000542651	T	0.18810	2.19	4.5	-1.6	0.08426	.	.	.	.	.	T	0.13927	0.0337	.	.	.	0.27189	N	0.960467	.	.	.	.	.	.	T	0.34153	-0.9840	5	.	.	.	.	5.8744	0.18820	0.4508:0.0:0.427:0.1222	.	.	.	.	C	111	ENSP00000439008:R111C	.	R	-	1	0	RASA3	113813412	0.459000	0.25768	0.061000	0.19648	0.857000	0.48899	0.095000	0.15127	-0.728000	0.04882	-0.221000	0.12465	CGT	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045957.2		-	ENST00000334062.7	Silent	SNP	13 : 114795310 - 114795310 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	40	5
HPS4	89781	broad.mit.edu	37	22	26860621	26860621	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26860621G>A	ENST00000398145.2	-	11	1591	c.975C>T	c.(973-975)aaC>aaT	p.N325N	HPS4_ENST00000398141.1_Silent_p.N338N|HPS4_ENST00000402105.3_Silent_p.N320N|HPS4_ENST00000336873.5_Silent_p.N325N	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	325					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						ACAAGCATCCGTTCTCCTTCC	0.597		NA							Hermansky-Pudlak syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	87	90			NA	NA	22		NA											NA				26860621		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	HPS, HPS1-8		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099	89781	89781			15844	protein-coding gene	gene with protein product		606682			NA	11836498, 12663659	Standard	NM_022081	NM_022081	NA	Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.975C>T	22.37:g.26860621G>A		NA	B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	37	CCDS13835.1																																																																																			HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320778.1		-	ENST00000398145.2	Silent	SNP	22 : 26860621 - 26860621 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	517	90
SOBP	55084	broad.mit.edu	37	6	107956512	107956512	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107956512C>T	ENST00000317357.5	+	6	3123	c.2464C>T	c.(2464-2466)Ccc>Tcc	p.P822S	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	822							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GCGGATGCTGCCCAAGACCGG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	75	71			NA	NA	6		NA											NA				107956512		2128	4242	6370	SO:0001583	missense			AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320	55084	55084			29256	protein-coding gene	gene with protein product		613667			NA		Standard	NM_018013	NM_018013	NA	Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.2464C>T	6.37:g.107956512C>T	ENSP00000318900:p.Pro822Ser	NA	B0QZ12|Q5BJD4|Q8N2B2	37	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395447	0.62066	.	.	ENSG00000112320	ENST00000317357;ENST00000230065	T	0.47869	0.83	4.54	4.54	0.55810	.	2.024820	0.03193	U	0.173606	T	0.22085	0.0532	N	0.11560	0.145	0.43787	D	0.996326	P	0.47034	0.889	P	0.47402	0.546	T	0.48364	-0.9042	10	0.02654	T	1	-2.1772	17.2698	0.87098	0.0:1.0:0.0:0.0	.	822	A7XYQ1	SOBP_HUMAN	S	822;217	ENSP00000318900:P822S	ENSP00000230065:P217S	P	+	1	0	SOBP	108063205	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.585000	0.53943	2.052000	0.61016	0.462000	0.41574	CCC	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041693.2		+	ENST00000317357.5	Missense_Mutation	SNP	6 : 107956512 - 107956512 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	695	17
FOXP2	93986	broad.mit.edu	37	7	114282577	114282577	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:114282577C>A	ENST00000408937.3	+	8	1337	c.963C>A	c.(961-963)tcC>tcA	p.S321S	FOXP2_ENST00000378237.3_Silent_p.S296S|FOXP2_ENST00000390668.3_Silent_p.S320S|FOXP2_ENST00000393489.3_Silent_p.S204S|FOXP2_ENST00000393494.2_Silent_p.S296S|FOXP2_ENST00000393498.2_Silent_p.S275S|FOXP2_ENST00000393491.3_Silent_p.S204S|FOXP2_ENST00000360232.4_Silent_p.S296S|FOXP2_ENST00000393500.3_Silent_p.S221S|FOXP2_ENST00000350908.4_Silent_p.S296S|FOXP2_ENST00000403559.4_Silent_p.S313S	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	296					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CTAACAATTCCTCCTCGACTA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													241	209	220			NA	NA	7		NA											NA				114282577		2203	4300	6503	SO:0001819	synonymous_variant			U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573	93986	93986		Forkhead boxes	13875	protein-coding gene	gene with protein product	trinucleotide repeat containing 10, forkhead/winged-helix transcription factor, speech and language disorder 1, CAG repeat protein 44	605317		TNRC10, SPCH1	NA	11586359, 9225980	Standard	NM_014491	NM_014491	NA	Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000408937.3:c.963C>A	7.37:g.114282577C>A		NA	A0AUV6|A4D0U8|A6NNW4|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	37	CCDS43635.1																																																																																			FOXP2-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000137483.3		+	ENST00000408937.3	Silent	SNP	7 : 114282577 - 114282577 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	475	51
KERA	11081	broad.mit.edu	37	12	91450049	91450049	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91450049T>G	ENST00000266719.3	-	2	257	c.10A>C	c.(10-12)Aca>Cca	p.T4P		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	4					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						AAACAGATTGTGCCTGCCATT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	41	43			NA	NA	12		NA											NA				91450049		2200	4296	6496	SO:0001583	missense			AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330	11081	11081		Proteoglycans / Extracellular Matrix : Small leucine-rich repeats	6309	protein-coding gene	gene with protein product	keratocan proteoglycan	603288		CNA2	NA	10565548, 10802664	Standard	NM_007035	NM_007035	NA	Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.10A>C	12.37:g.91450049T>G	ENSP00000266719:p.Thr4Pro	NA		37	CCDS9037.1	.	.	.	.	.	.	.	.	.	.	T	0.130	-1.114561	0.01799	.	.	ENSG00000139330	ENST00000266719	T	0.55234	0.53	5.96	-0.939	0.10408	.	1.074070	0.06975	N	0.818779	T	0.27313	0.0670	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17992	-1.0351	10	0.25751	T	0.34	0.0551	7.3371	0.26615	0.0:0.0984:0.3703:0.5313	.	4	O60938	KERA_HUMAN	P	4	ENSP00000266719:T4P	ENSP00000266719:T4P	T	-	1	0	KERA	89974180	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.013000	0.13310	-0.076000	0.12775	0.528000	0.53228	ACA	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407149.2		-	ENST00000266719.3	Missense_Mutation	SNP	12 : 91450049 - 91450049 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	301	55
WDR43	23160	broad.mit.edu	37	2	29152515	29152515	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29152515C>T	ENST00000407426.3	+	11	1432	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	459						nucleolus		p.T502M(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					GACCTCCAGACGAATAGCTTT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	breast(1)											111	109	110			NA	NA	2		NA											NA				29152515		1834	4096	5930	SO:0001583	missense			D87716	CCDS46251.1	2p23.3	2013-01-09			ENSG00000163811	ENSG00000163811	23160	23160		WD repeat domain containing	28945	protein-coding gene	gene with protein product	UTP5, small subunit (SSU) processome component, homolog (yeast)				NA	7584026, 7584028, 17699751	Standard	XM_087089	NM_015131	NA	Approved	KIAA0007, NET12, UTP5	uc002rmo.2	Q15061	OTTHUMG00000152015	ENST00000407426.3:c.1376C>T	2.37:g.29152515C>T	ENSP00000384302:p.Thr459Met	NA	Q15395|Q92577	37	CCDS46251.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.525409	0.44969	.	.	ENSG00000163811	ENST00000407426	T	0.75704	-0.96	5.81	4.94	0.65067	.	0.146333	0.64402	N	0.000009	T	0.67353	0.2884	M	0.65975	2.015	0.50467	D	0.999879	P	0.37525	0.598	B	0.21917	0.037	T	0.71076	-0.4697	10	0.66056	D	0.02	-8.4749	12.1851	0.54234	0.0:0.8621:0.0:0.1378	.	459	Q15061	WDR43_HUMAN	M	459	ENSP00000384302:T459M	ENSP00000384302:T459M	T	+	2	0	WDR43	29006019	0.992000	0.36948	0.890000	0.34922	0.890000	0.51754	3.080000	0.50112	1.459000	0.47892	0.655000	0.94253	ACG	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324865.1		+	ENST00000407426.3	Missense_Mutation	SNP	2 : 29152515 - 29152515 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	215	61
ZNF708	7562	broad.mit.edu	37	19	21476977	21476977	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21476977G>A	ENST00000356929.3	-	4	988	c.791C>T	c.(790-792)tCc>tTc	p.S264F		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						AAGGTTTGAGGACCGGTTAAA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	49	48			NA	NA	19		NA											NA				21476977		2160	4279	6439	SO:0001583	missense			X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141	7562	7562		Zinc fingers, C2H2-type, -	12945	protein-coding gene	gene with protein product			zinc finger protein 15-like 1 (KOX 8), zinc finger protein 708, zinc finger protein 708 (KOX8)	ZNF15, ZNF15L1	NA	2014798	Standard	NM_021269	NM_021269	NA	Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.791C>T	19.37:g.21476977G>A	ENSP00000349401:p.Ser264Phe	NA	Q6ZMR0	37	CCDS32980.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.758436	0.00084	.	.	ENSG00000182141	ENST00000356929	T	0.08008	3.14	1.05	-2.1	0.07210	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06371	0.0164	M	0.62723	1.935	0.09310	N	1	B	0.23540	0.087	B	0.20184	0.028	T	0.49214	-0.8963	9	0.09843	T	0.71	.	0.621	0.00778	0.1875:0.3287:0.2088:0.2751	.	264	P17019	ZN708_HUMAN	F	264	ENSP00000349401:S264F	ENSP00000349401:S264F	S	-	2	0	ZNF708	21268817	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-1.742000	0.01835	-1.500000	0.01819	-1.523000	0.00931	TCC	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463953.1		-	ENST00000356929.3	Missense_Mutation	SNP	19 : 21476977 - 21476977 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	363	32
ZFP41	286128	broad.mit.edu	37	8	144332465	144332465	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144332465C>T	ENST00000330701.4	+	2	821	c.452C>T	c.(451-453)gCc>gTc	p.A151V	ZFP41_ENST00000520584.1_Missense_Mutation_p.A151V|ZFP41_ENST00000522452.1_Missense_Mutation_p.A151V	NM_173832.4	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	151					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			TGCGGGAAAGCCTTTAACTGC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	112	111			NA	NA	8		NA											NA				144332465		2203	4300	6503	SO:0001583	missense				CCDS6397.1	8q24.3	2013-01-08	2012-11-27		ENSG00000181638	ENSG00000181638	286128	286128		Zinc fingers, C2H2-type	26786	protein-coding gene	gene with protein product			zinc finger protein 41 homolog (mouse)		NA	11214971	Standard	NM_173832	NM_173832	NA	Approved	FLJ38705, FLJ00028, ZNF753	uc003yxw.4	Q8N8Y5	OTTHUMG00000164951	ENST00000330701.4:c.452C>T	8.37:g.144332465C>T	ENSP00000327427:p.Ala151Val	NA	D3DWJ5	37	CCDS6397.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.122670	0.56613	.	.	ENSG00000181638	ENST00000520584;ENST00000330701;ENST00000522452	T;T;T	0.36340	1.26;1.26;1.26	3.15	2.27	0.28462	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19446	0.0467	N	0.16368	0.405	0.09310	N	1	P	0.38551	0.636	B	0.35770	0.21	T	0.10222	-1.0639	9	0.49607	T	0.09	-9.3379	4.4941	0.11828	0.0:0.6351:0.232:0.1329	.	151	Q8N8Y5	ZFP41_HUMAN	V	151	ENSP00000430465:A151V;ENSP00000327427:A151V;ENSP00000428966:A151V	ENSP00000327427:A151V	A	+	2	0	ZFP41	144403840	0.011000	0.17503	0.241000	0.24154	0.960000	0.62799	0.660000	0.25009	0.647000	0.30713	0.467000	0.42956	GCC	ZFP41-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381114.2		+	ENST00000330701.4	Missense_Mutation	SNP	8 : 144332465 - 144332465 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	766	133
G6PC2	57818	broad.mit.edu	37	2	169757900	169757900	+	Missense_Mutation	SNP	G	G	A	rs143670077		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:169757900G>A	ENST00000375363.3	+	1	151	c.59G>A	c.(58-60)cGa>cAa	p.R20Q	SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000429379.2_Missense_Mutation_p.R20Q|G6PC2_ENST00000421979.1_Missense_Mutation_p.R20Q	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	20					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						AAGGACTACCGAGCTTACTAC	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	136	136	136		59,59	2.9	0.9	2	dbSNP_134	136	0,8600		0,0,4300	no	missense,missense	G6PC2	NM_001081686.1,NM_021176.2	43,43	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	benign,benign	20/155,20/356	169757900	1,13005	2203	4300	6503	SO:0001583	missense			AF283575	CCDS2230.1, CCDS46443.1	2q24-q31	2008-02-05			ENSG00000152254	ENSG00000152254	57818	57818			28906	protein-coding gene	gene with protein product	islet specific glucose 6 phosphatase catalytic subunit related protein	608058			NA	10078553, 10078554	Standard	NM_021176	NM_021176	NA	Approved	IGRP	uc002uem.3	Q9NQR9	OTTHUMG00000132182	ENST00000375363.3:c.59G>A	2.37:g.169757900G>A	ENSP00000364512:p.Arg20Gln	NA	Q6AHZ0	37	CCDS2230.1	.	.	.	.	.	.	.	.	.	.	G	0.343	-0.949068	0.02304	2.27E-4	0.0	ENSG00000152254	ENST00000375363;ENST00000429379;ENST00000421979	T;T;D	0.82344	-0.88;-0.88;-1.6	5.62	2.87	0.33458	.	.	.	.	.	T	0.64864	0.2637	N	0.14661	0.345	0.09310	N	0.999999	B;B	0.11235	0.002;0.004	B;B	0.04013	0.001;0.001	T	0.46442	-0.9191	9	0.09338	T	0.73	-6.0633	7.1564	0.25639	0.1678:0.0:0.7092:0.123	.	20;20	E9PAX2;Q9NQR9	.;G6PC2_HUMAN	Q	20	ENSP00000364512:R20Q;ENSP00000396939:R20Q;ENSP00000392183:R20Q	ENSP00000282075:R20Q	R	+	2	0	G6PC2	169466146	0.992000	0.36948	0.861000	0.33841	0.704000	0.40688	1.761000	0.38440	0.323000	0.23307	-0.782000	0.03352	CGA	G6PC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255234.2		+	ENST00000375363.3	Missense_Mutation	SNP	2 : 169757900 - 169757900 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	684	155
CEP95	90799	broad.mit.edu	37	17	62530843	62530843	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62530843C>T	ENST00000556440.2	+	17	2568	c.2058C>T	c.(2056-2058)acC>acT	p.T686T	CEP95_ENST00000553412.1_Silent_p.T522T	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	686						centrosome|spindle pole	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						GAATGAGGACCCGGGAAGAAA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	79	79			NA	NA	17		NA											NA				62530843		1876	4095	5971	SO:0001819	synonymous_variant			AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890	90799	90799			25141	protein-coding gene	gene with protein product			coiled-coil domain containing 45	CCDC45	NA	21399614	Standard	NM_138363	NM_138363	NA	Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.2058C>T	17.37:g.62530843C>T		NA	Q96M81	37	CCDS45763.1																																																																																			CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445100.2		+	ENST00000556440.2	Silent	SNP	17 : 62530843 - 62530843 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	96	17
FDFT1	2222	broad.mit.edu	37	8	11667339	11667339	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11667339G>A	ENST00000530664.1	+	3	637	c.169G>A	c.(169-171)Gtg>Atg	p.V57M	FDFT1_ENST00000538689.1_Missense_Mutation_p.V10M|FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000220584.4_Missense_Mutation_p.V121M|FDFT1_ENST00000443614.2_Missense_Mutation_p.V121M|FDFT1_ENST00000528812.1_Missense_Mutation_p.V57M|FDFT1_ENST00000525777.1_Missense_Mutation_p.V36M|FDFT1_ENST00000528643.1_Missense_Mutation_p.V36M|FDFT1_ENST00000525900.1_Missense_Mutation_p.V114M			P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	121					cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		GGATCGCCAGGTGCTGGAGGA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	70	77			NA	NA	8		NA											NA				11667339		2203	4300	6503	SO:0001583	missense			X69141	CCDS5985.1, CCDS75696.1, CCDS75697.1	8p23.1-p22	2005-03-07			ENSG00000079459	ENSG00000079459	2222	2222	2.5.1.21		3629	protein-coding gene	gene with protein product	squalene synthase	184420			NA		Standard		NM_001287742	NA	Approved		uc003wui.3	P37268	OTTHUMG00000090801	ENST00000530664.1:c.169G>A	8.37:g.11667339G>A	ENSP00000432331:p.Val57Met	NA	Q96GT0	37		.	.	.	.	.	.	.	.	.	.	G	27.4	4.826881	0.90955	.	.	ENSG00000079459	ENST00000538689;ENST00000530337;ENST00000220584;ENST00000443614;ENST00000525900;ENST00000528812;ENST00000530664;ENST00000528643;ENST00000525777	T;T;T;D;T;T;T;T;T	0.82255	-0.99;-0.99;-0.99;-1.59;-0.99;-0.99;-0.99;-0.99;-0.99	4.71	4.71	0.59529	Terpenoid synthase (2);	0.000000	0.85682	D	0.000000	D	0.91563	0.7335	M	0.83223	2.63	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.995;0.996;0.995;0.995	D	0.92624	0.6110	10	0.72032	D	0.01	-34.0136	17.1687	0.86822	0.0:0.0:1.0:0.0	.	121;178;114;121	B4DJE5;B4DND3;E9PNM1;P37268	.;.;.;FDFT_HUMAN	M	10;121;121;121;114;57;57;36;36	ENSP00000444248:V10M;ENSP00000431852:V121M;ENSP00000220584:V121M;ENSP00000390367:V121M;ENSP00000434714:V114M;ENSP00000431749:V57M;ENSP00000432331:V57M;ENSP00000431649:V36M;ENSP00000436069:V36M	ENSP00000220584:V121M	V	+	1	0	FDFT1	11704748	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.302000	0.96175	2.602000	0.87976	0.491000	0.48974	GTG	FDFT1-009	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000383678.1		+	ENST00000530664.1	Missense_Mutation	SNP	8 : 11667339 - 11667339 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	230	44
RFX7	64864	broad.mit.edu	37	15	56388340	56388340	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56388340G>A	ENST00000559447.2	-	9	1566	c.1295C>T	c.(1294-1296)gCg>gTg	p.A432V	RFX7_ENST00000317318.6_Missense_Mutation_p.A529V|RFX7_ENST00000422057.1_Missense_Mutation_p.A432V|RFX7_ENST00000423270.1_Missense_Mutation_p.A529V			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	432					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGTTCCCCCCGCACTGCTGCT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	66	66			NA	NA	15		NA											NA				56388340		2026	4180	6206	SO:0001583	missense					15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827	64864	64864			25777	protein-coding gene	gene with protein product		612660	regulatory factor X domain containing 2	RFXDC2	NA		Standard	NM_022841	NM_022841	NA	Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.1295C>T	15.37:g.56388340G>A	ENSP00000453281:p.Ala432Val	NA	Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	37		.	.	.	.	.	.	.	.	.	.	G	0.165	-1.077149	0.01903	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.52526	0.66;0.66;0.66	5.23	4.31	0.51392	.	0.777644	0.11207	N	0.588138	T	0.31040	0.0784	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.25187	-1.0139	10	0.52906	T	0.07	0.0044	13.119	0.59314	0.0782:0.0:0.9218:0.0	.	432;432	Q2KHR2;C9JU50	RFX7_HUMAN;.	V	432;529;529	ENSP00000387504:A432V;ENSP00000313299:A529V;ENSP00000397644:A529V	ENSP00000313299:A529V	A	-	2	0	RFX7	54175632	0.000000	0.05858	0.338000	0.25549	0.666000	0.39218	0.620000	0.24403	1.181000	0.42912	0.655000	0.94253	GCG	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	NA	protein_coding	OTTHUMT00000418841.3		-	ENST00000559447.2	Missense_Mutation	SNP	15 : 56388340 - 56388340 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	153	33
UBASH3B	84959	broad.mit.edu	37	11	122669710	122669710	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122669710G>A	ENST00000284273.5	+	10	1793	c.1418G>A	c.(1417-1419)cGc>cAc	p.R473H		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	473	Protein tyrosine phosphatase (By similarity).					cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CCGTCCCTTCGCTGCGTTCAG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	121	125			NA	NA	11		NA											NA				122669710		2202	4299	6501	SO:0001583	missense			AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127	84959	84959			29884	protein-coding gene	gene with protein product	SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate	609201			NA	11853319, 12370296	Standard	NM_032873	NM_032873	NA	Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1418G>A	11.37:g.122669710G>A	ENSP00000284273:p.Arg473His	NA	Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	37	CCDS31694.1	.	.	.	.	.	.	.	.	.	.	G	36	5.627954	0.96671	.	.	ENSG00000154127	ENST00000284273	T	0.77098	-1.07	6.17	6.17	0.99709	Histidine phosphatase superfamily, clade-1 (1);	0.000000	0.85682	D	0.000000	D	0.92404	0.7589	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93419	0.6775	10	0.87932	D	0	-2.7987	20.4745	0.99168	0.0:0.0:1.0:0.0	.	473	Q8TF42	UBS3B_HUMAN	H	473	ENSP00000284273:R473H	ENSP00000284273:R473H	R	+	2	0	UBASH3B	122174920	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.200000	0.95010	2.941000	0.99782	0.655000	0.94253	CGC	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387499.1		+	ENST00000284273.5	Missense_Mutation	SNP	11 : 122669710 - 122669710 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	355	15
FLCN	201163	broad.mit.edu	37	17	17122372	17122372	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17122372C>T	ENST00000285071.4	-	9	1477	c.1023G>A	c.(1021-1023)cgG>cgA	p.R341R	RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	341					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CTGGCAGCTTCCGGGGCTGCC	0.652		NA							Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	48	44			NA	NA	17		NA											NA				17122372		2202	4300	6502	SO:0001819	synonymous_variant	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803	201163	201163			27310	protein-coding gene	gene with protein product		607273			NA		Standard	NM_144606	NM_144997	NA	Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.1023G>A	17.37:g.17122372C>T		NA	A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	37	CCDS32579.1																																																																																			FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131577.1		-	ENST00000285071.4	Silent	SNP	17 : 17122372 - 17122372 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	695	155
MYH10	4628	broad.mit.edu	37	17	8390805	8390805	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8390805G>A	ENST00000360416.3	-	36	5130	c.4992C>T	c.(4990-4992)atC>atT	p.I1664I	MYH10_ENST00000379980.4_Silent_p.I1649I|MYH10_ENST00000269243.4_Silent_p.I1633I|MYH10_ENST00000396239.1_Silent_p.I1654I	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1633					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCGCAGCCTCGATTTGGGCTT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4405	2.1+/-5.4	0,1,2202	254	232	239		4899	-10.1	0.1	17		239	0,8600		0,0,4300	no	coding-synonymous	MYH10	NM_005964.1		0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077		1633/1977	8390805	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026	4628	4628		Myosins / Myosin superfamily : Class II	7568	protein-coding gene	gene with protein product		160776	myosin, heavy polypeptide 10, non-muscle		NA	1860190	Standard		NM_001256012	NA	Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000360416.3:c.4992C>T	17.37:g.8390805G>A		NA	Q12989|Q149N3|Q16087	37	CCDS58515.1																																																																																			MYH10-002	PUTATIVE	not_organism_supported|not_organism_supported|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258891.1		-	ENST00000360416.3	Silent	SNP	17 : 8390805 - 8390805 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1477	294
SRGAP1	57522	broad.mit.edu	37	12	64485152	64485152	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64485152C>T	ENST00000355086.3	+	12	2057	c.1533C>T	c.(1531-1533)ttC>ttT	p.F511F	SRGAP1_ENST00000543397.1_Intron|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Intron	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	511	Rho-GAP.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TGGAAACATTCGTCAAGGTAC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	82	81			NA	NA	12		NA											NA				64485152		2203	4300	6503	SO:0001819	synonymous_variant			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935	57522	57522		Rho GTPase activating proteins	17382	protein-coding gene	gene with protein product		606523			NA	11672528	Standard		NM_020762	NA	Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1533C>T	12.37:g.64485152C>T		NA	Q9H8A3|Q9P2P2	37	CCDS8967.1																																																																																			SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400896.1		+	ENST00000355086.3	Silent	SNP	12 : 64485152 - 64485152 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	254	42
FBXL7	23194	broad.mit.edu	37	5	15936764	15936764	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:15936764C>T	ENST00000504595.1	+	4	1426	c.945C>T	c.(943-945)ggC>ggT	p.G315G	FBXL7_ENST00000510662.1_Silent_p.G268G|FBXL7_ENST00000329673.7_Silent_p.G303G	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	315					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CCGACGAAGGCCTGCGCTACC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	39	38			NA	NA	5		NA											NA				15936764		2187	4284	6471	SO:0001819	synonymous_variant			AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580	23194	23194		F-boxes / Leucine-rich repeats	13604	protein-coding gene	gene with protein product		605656			NA	10048485, 10531035	Standard	NM_012304	NM_012304	NA	Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.945C>T	5.37:g.15936764C>T		NA	B9EGF1|O94926	37	CCDS54833.1																																																																																			FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366117.1		+	ENST00000504595.1	Silent	SNP	5 : 15936764 - 15936764 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	175	27
MPO	4353	broad.mit.edu	37	17	56355451	56355451	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56355451C>T	ENST00000225275.3	-	7	1117	c.941G>A	c.(940-942)cGc>cAc	p.R314H	MPO_ENST00000578493.1_5'UTR|MPO_ENST00000340482.3_Missense_Mutation_p.R346H	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	314					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CGGGCAGGAGCGGAAGAACGG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	88	91			NA	NA	17		NA											NA				56355451		2203	4300	6503	SO:0001583	missense				CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	4353	4353	1.11.1.7		7218	protein-coding gene	gene with protein product		606989			NA		Standard		NM_000250	NA	Approved		uc002ivu.1	P05164		ENST00000225275.3:c.941G>A	17.37:g.56355451C>T	ENSP00000225275:p.Arg314His	NA	A1L4B8|Q14862|Q4PJH5|Q9UCL7	37	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	C	34	5.382585	0.95967	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	D;D	0.84660	-1.88;-1.88	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.93288	0.7861	H	0.98559	4.265	0.80722	D	1	D	0.55800	0.973	P	0.48089	0.566	D	0.95837	0.8863	10	0.87932	D	0	-24.6902	18.0012	0.89198	0.0:1.0:0.0:0.0	.	314	P05164	PERM_HUMAN	H	346;314	ENSP00000344419:R346H;ENSP00000225275:R314H	ENSP00000225275:R314H	R	-	2	0	MPO	53710450	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.046000	0.71029	2.518000	0.84900	0.561000	0.74099	CGC	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443971.1		-	ENST00000225275.3	Missense_Mutation	SNP	17 : 56355451 - 56355451 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	666	111
NCAPH	23397	broad.mit.edu	37	2	97009891	97009891	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97009891A>C	ENST00000455200.1	+	6	906	c.611A>C	c.(610-612)aAg>aCg	p.K204T	NCAPH_ENST00000427946.1_Missense_Mutation_p.K79T|NCAPH_ENST00000240423.4_Missense_Mutation_p.K215T			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	215					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GTAAAGCCAAAGAAGAAGCAC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	103	107			NA	NA	2		NA											NA				97009891		2203	4300	6503	SO:0001583	missense			BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152	23397	23397			1112	protein-coding gene	gene with protein product		602332	barren (Drosophila) homolog, barren homolog (Drosophila), barren homolog 1 (Drosophila)	BRRN1	NA	9417923	Standard	NM_015341	NM_015341	NA	Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000455200.1:c.611A>C	2.37:g.97009891A>C	ENSP00000407308:p.Lys204Thr	NA	Q8TB87	37		.	.	.	.	.	.	.	.	.	.	A	17.11	3.304597	0.60305	.	.	ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000435975;ENST00000455200	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	5.43	4.29	0.51040	.	0.151158	0.64402	D	0.000018	T	0.71151	0.3306	M	0.75264	2.295	0.44547	D	0.997506	P;P;P;P	0.51653	0.89;0.89;0.947;0.89	P;P;P;P	0.56751	0.636;0.636;0.805;0.636	T	0.70263	-0.4920	10	0.41790	T	0.15	-18.9547	8.7826	0.34800	0.9065:0.0:0.0935:0.0	.	191;204;204;215	B4DRG7;E9PHA2;C9J470;Q15003	.;.;.;CND2_HUMAN	T	215;79;204;204	ENSP00000240423:K215T;ENSP00000400774:K79T;ENSP00000405237:K204T;ENSP00000407308:K204T	ENSP00000240423:K215T	K	+	2	0	NCAPH	96373618	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	3.687000	0.54692	1.034000	0.39945	0.524000	0.50904	AAG	NCAPH-005	PUTATIVE	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000338875.1		+	ENST00000455200.1	Missense_Mutation	SNP	2 : 97009891 - 97009891 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	337	67
FZD7	8324	broad.mit.edu	37	2	202900639	202900639	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202900639C>T	ENST00000286201.1	+	1	1330	c.1269C>T	c.(1267-1269)ggC>ggT	p.G423G		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	423					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						CGCTGCGGGGCTTCGTGCTGG	0.617		NA									OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	68	72			NA	NA	2		NA											NA				202900639		2203	4300	6503	SO:0001819	synonymous_variant			AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760	8324	8324		GPCR / Class F : Frizzled receptors	4045	protein-coding gene	gene with protein product		603410	frizzled (Drosophila) homolog 7, frizzled homolog 7 (Drosophila), frizzled 7, seven transmembrane spanning receptor, frizzled family receptor 7		NA	9707618, 9813155	Standard	NM_003507	NM_003507	NA	Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.1269C>T	2.37:g.202900639C>T		2133	O94816|Q53S59|Q96B74	37	CCDS2351.1																																																																																			FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256314.1		+	ENST00000286201.1	Silent	SNP	2 : 202900639 - 202900639 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	545	132
PLXNA3	55558	broad.mit.edu	37	X	153698803	153698803	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153698803G>A	ENST00000369682.3	+	30	5180	c.5005G>A	c.(5005-5007)Gtg>Atg	p.V1669M	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1669					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCAGAAGTTCGTGGATGACCT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	68	71			NA	NA	X		NA											NA				153698803		2203	4300	6503	SO:0001583	missense			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827	55558	55558		Plexins	9101	protein-coding gene	gene with protein product		300022		PLXN4	NA	8248200, 8733135	Standard	NM_017514	NM_017514	NA	Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.5005G>A	X.37:g.153698803G>A	ENSP00000358696:p.Val1669Met	NA	Q5HY36	37	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780325	0.90195	.	.	ENSG00000130827	ENST00000369682	T	0.18174	2.23	5.02	5.02	0.67125	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.48241	0.1489	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.58289	-0.7662	10	0.87932	D	0	.	16.1856	0.81948	0.0:0.0:1.0:0.0	.	1669	P51805	PLXA3_HUMAN	M	1669	ENSP00000358696:V1669M	ENSP00000358696:V1669M	V	+	1	0	PLXNA3	153351997	1.000000	0.71417	0.992000	0.48379	0.970000	0.65996	9.860000	0.99555	2.072000	0.62099	0.529000	0.55759	GTG	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000081634.1		+	ENST00000369682.3	Missense_Mutation	SNP	X : 153698803 - 153698803 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	456	57
HCFC1	3054	broad.mit.edu	37	X	153219959	153219959	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153219959G>A	ENST00000369984.4	-	17	4234	c.3891C>T	c.(3889-3891)caC>caT	p.H1297H	HCFC1_ENST00000310441.7_Silent_p.H1297H|HCFC1_ENST00000354233.3_Silent_p.H1228H			P51610	HCFC1_HUMAN	host cell factor C1	1297					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCCTGTCTCGTGGGTCTCAC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,3771		0,0,1,1601,569	99	112	108		3891	-2.2	1	X		108	0,6616		0,0,0,2397,1822	no	coding-synonymous	HCFC1	NM_005334.2		0,0,1,3998,2391	AA,AG,A,GG,G	NA	0.0,0.0265,0.0096		1297/2036	153219959	1,10387	2171	4219	6390	SO:0001819	synonymous_variant				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534	3054	3054			4839	protein-coding gene	gene with protein product	VP16-accessory protein, protein phosphatase 1, regulatory subunit 89	300019	mental retardation, X-linked 3, host cell factor C1 (VP16-accessory protein)	HFC1, MRX3	NA	8392914, 23000143	Standard	NM_005334	XM_005274664	NA	Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000369984.4:c.3891C>T	X.37:g.153219959G>A		NA	Q6P4G5	37																																																																																				HCFC1-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000061101.3		-	ENST00000369984.4	Silent	SNP	X : 153219959 - 153219959 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	854	244
SNRNP35	11066	broad.mit.edu	37	12	123950548	123950548	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123950548G>T	ENST00000526639.2	+	2	1040	c.461G>T	c.(460-462)aGa>aTa	p.R154I	SNRNP35_ENST00000350887.5_Missense_Mutation_p.R154I|SNRNP35_ENST00000412157.2_Missense_Mutation_p.R159I|SNRNP35_ENST00000527158.2_Intron	NM_022717.3	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	154	Arg-rich.				mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GGGCAACTGAGATTTGGGGGA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	68	64			NA	NA	12		NA											NA				123950548		2203	4300	6503	SO:0001583	missense			BC054034	CCDS9249.1, CCDS45005.1	12q24.31	2013-02-12				ENSG00000184209	11066	11066		RNA binding motif (RRM) containing	30852	protein-coding gene	gene with protein product	U1 snRNP binding protein homolog				NA	10520751, 8889548	Standard	NM_007020	XM_005253545	NA	Approved	U1SNRNPBP	uc001ufb.1	Q16560		ENST00000526639.2:c.461G>T	12.37:g.123950548G>T	ENSP00000432595:p.Arg154Ile	NA	A8K262|Q5XKN9	37	CCDS9249.1	.	.	.	.	.	.	.	.	.	.	G	33	5.245181	0.95272	.	.	ENSG00000184209	ENST00000526639;ENST00000412157;ENST00000350887	T;T;T	0.75477	-0.94;-0.94;-0.94	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.86552	0.5960	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86936	0.2076	10	0.87932	D	0	-15.4667	20.034	0.97549	0.0:0.0:1.0:0.0	.	159;154	Q16560-2;Q16560	.;U1SBP_HUMAN	I	154;159;154	ENSP00000432595:R154I;ENSP00000403310:R159I;ENSP00000340774:R154I	ENSP00000340774:R154I	R	+	2	0	SNRNP35	122516501	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	9.389000	0.97243	2.753000	0.94483	0.555000	0.69702	AGA	SNRNP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395197.2		+	ENST00000526639.2	Missense_Mutation	SNP	12 : 123950548 - 123950548 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	633	116
ADCY2	108	broad.mit.edu	37	5	7717276	7717276	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7717276G>A	ENST00000338316.4	+	12	1718	c.1629G>A	c.(1627-1629)aaG>aaA	p.K543K	ADCY2_ENST00000537121.1_Silent_p.K363K|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	543					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ATAGAACCAAGTCACAAAAGA	0.264		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	88	86			NA	NA	5		NA											NA				7717276		2202	4299	6501	SO:0001819	synonymous_variant			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	108	108	4.6.1.1	Adenylate cyclases	233	protein-coding gene	gene with protein product		103071			NA	1427768	Standard	NM_020546	NM_020546	NA	Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1629G>A	5.37:g.7717276G>A		NA	Q2NKL8|Q9UDB2|Q9UPU2	37	CCDS3872.2																																																																																			ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206930.2		+	ENST00000338316.4	Silent	SNP	5 : 7717276 - 7717276 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	364	48
OBSCN	84033	broad.mit.edu	37	1	228456263	228456263	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228456263G>T	ENST00000570156.2	+	19	5520	c.5446G>T	c.(5446-5448)Gca>Tca	p.A1816S	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.A288S|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1632S|OBSCN_ENST00000422127.1_Missense_Mutation_p.A1632S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	803	Ig-like 18.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGAGCAGCCAGCACACAGGGA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	39	39			NA	NA	1		NA											NA				228456263		1990	4162	6152	SO:0001583	missense			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358	84033	84033		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	15719	protein-coding gene	gene with protein product		608616			NA	11448995, 11814696	Standard	NM_052843	NM_001098623	NA	Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000570156.2:c.5446G>T	1.37:g.228456263G>T	ENSP00000455507:p.Ala1816Ser	NA	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	37	CCDS59204.1	.	.	.	.	.	.	.	.	.	.	.	6.074	0.381888	0.11524	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.60920	0.56;0.17;0.15	5.51	0.981	0.19756	Immunoglobulin-like (1);	0.182299	0.34156	N	0.004201	T	0.50309	0.1608	L	0.61218	1.895	0.19300	N	0.99998	B;P;B	0.42123	0.392;0.771;0.42	B;P;B	0.44422	0.262;0.449;0.205	T	0.43261	-0.9402	10	0.10636	T	0.68	.	7.8376	0.29378	0.2147:0.0:0.6674:0.118	.	1632;78;1632	Q5VST9;Q24JT4;Q5VST9-3	OBSCN_HUMAN;.;.	S	1632;1632;288	ENSP00000284548:A1632S;ENSP00000409493:A1632S;ENSP00000352613:A288S	ENSP00000284548:A1632S	A	+	1	0	OBSCN	226522886	0.009000	0.17119	0.000000	0.03702	0.043000	0.13939	1.211000	0.32382	0.305000	0.22832	0.491000	0.48974	GCA	OBSCN-011	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421354.3		+	ENST00000570156.2	Missense_Mutation	SNP	1 : 228456263 - 228456263 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	90
COL15A1	1306	broad.mit.edu	37	9	101782700	101782700	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101782700A>G	ENST00000375001.3	+	12	2100	c.1677A>G	c.(1675-1677)ggA>ggG	p.G559G		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	559	Triple-helical region 1 (COL1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GAATGAAAGGACAGGCTGGGC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	129	135			NA	NA	9		NA											NA				101782700		2203	4300	6503	SO:0001819	synonymous_variant			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291	1306	1306		Proteoglycans / Extracellular Matrix : Collagen proteoglycans, Collagens	2192	protein-coding gene	gene with protein product	collagen type XV proteoglycan	120325			NA	1427836	Standard	NM_001855	NM_001855	NA	Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1677A>G	9.37:g.101782700A>G		NA	Q5T6J4|Q9UDC5|Q9Y4W4	37	CCDS35081.1																																																																																			COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053386.3		+	ENST00000375001.3	Silent	SNP	9 : 101782700 - 101782700 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	287	42
SPTA1	6708	broad.mit.edu	37	1	158631185	158631185	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158631185C>T	ENST00000368147.4	-	18	2659	c.2479G>A	c.(2479-2481)Gct>Act	p.A827T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	NA					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTTTTGGAAGCAATCAGGTCC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	134	136			NA	NA	1		NA											NA				158631185		1878	4113	5991	SO:0001583	missense			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554	6708	6708		EF-hand domain containing	11272	protein-coding gene	gene with protein product	elliptocytosis 2	182860	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		NA		Standard	NM_003126	NM_003126	NA	Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2479G>A	1.37:g.158631185C>T	ENSP00000357129:p.Ala827Thr	NA	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.198257	0.38806	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52295	0.67;0.67	4.93	-0.371	0.12525	.	.	.	.	.	T	0.09335	0.0230	N	0.12746	0.255	0.31268	N	0.69208	B	0.06786	0.001	B	0.17979	0.02	T	0.27773	-1.0064	9	0.23302	T	0.38	.	5.7759	0.18279	0.3872:0.4682:0.0:0.1446	.	827	P02549	SPTA1_HUMAN	T	827	ENSP00000357130:A827T;ENSP00000357129:A827T	ENSP00000357129:A827T	A	-	1	0	SPTA1	156897809	0.922000	0.31269	0.083000	0.20561	0.801000	0.45260	0.655000	0.24933	-0.227000	0.09884	0.650000	0.86243	GCT	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051851.3		-	ENST00000368147.4	Missense_Mutation	SNP	1 : 158631185 - 158631185 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	502	73
TBC1D32	221322	broad.mit.edu	37	6	121624817	121624817	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:121624817C>T	ENST00000275159.6	-	9	1025	c.1026G>A	c.(1024-1026)ccG>ccA	p.P342P	TBC1D32_ENST00000398212.2_Silent_p.P342P					TBC1 domain family, member 32	NA								p.P342P(2)			NA						AAAAGTAGATCGGATCCAAAA	0.323		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)|pancreas(1)											95	87	90			NA	NA	6		NA											NA				121624817		1810	4074	5884	SO:0001819	synonymous_variant			AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350	221322	221322			21485	protein-coding gene	gene with protein product	broad-minded homolog	615867	chromosome 6 open reading frame 171, chromosome 6 open reading frame 170	C6orf171, C6orf170	NA	20159594, 24285566	Standard	NM_152730	NM_152730	NA	Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000275159.6:c.1026G>A	6.37:g.121624817C>T		NA		37																																																																																				TBC1D32-003	PUTATIVE	non_canonical_conserved|basic	protein_coding	NA	protein_coding	OTTHUMT00000042017.3		-	ENST00000275159.6	Silent	SNP	6 : 121624817 - 121624817 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	167	37
TMEM98	26022	broad.mit.edu	37	17	31263420	31263420	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:31263420C>T	ENST00000579849.1	+	6	799	c.368C>T	c.(367-369)gCc>gTc	p.A123V	TMEM98_ENST00000578289.1_Missense_Mutation_p.A123V|TMEM98_ENST00000394642.3_Missense_Mutation_p.A123V	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	123						endoplasmic reticulum|integral to membrane				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			AAGACTTCAGCCAGTGTCAGC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	106	110			NA	NA	17		NA											NA				31263420		2203	4300	6503	SO:0001583	missense			CR605381	CCDS11274.1	17q11.2	2005-12-16			ENSG00000006042	ENSG00000006042	26022	26022			24529	protein-coding gene	gene with protein product		615949			NA	11230166	Standard	NM_015544	NM_001301746	NA	Approved	DKFZP564K1964	uc002hhr.3	Q9Y2Y6	OTTHUMG00000132882	ENST00000579849.1:c.368C>T	17.37:g.31263420C>T	ENSP00000463245:p.Ala123Val	NA	E1P631|Q9UFK2	37	CCDS11274.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364878	0.82463	.	.	ENSG00000006042	ENST00000394642;ENST00000261713;ENST00000395149;ENST00000439138	T;T;T;T	0.51325	0.71;0.87;0.88;0.71	5.47	5.47	0.80525	.	0.056029	0.64402	D	0.000001	T	0.40595	0.1123	L	0.29908	0.895	0.46167	D	0.998907	B	0.31413	0.322	B	0.31245	0.126	T	0.17258	-1.0375	10	0.54805	T	0.06	.	16.8304	0.85942	0.0:1.0:0.0:0.0	.	123	Q9Y2Y6	TMM98_HUMAN	V	123	ENSP00000378138:A123V;ENSP00000261713:A123V;ENSP00000398446:A123V;ENSP00000406394:A123V	ENSP00000261713:A123V	A	+	2	0	TMEM98	28287533	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.145000	0.77365	1.081000	0.41110	0.655000	0.94253	GCC	TMEM98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256372.2		+	ENST00000579849.1	Missense_Mutation	SNP	17 : 31263420 - 31263420 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	403	60
ZNF652	22834	broad.mit.edu	37	17	47394342	47394342	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47394342T>G	ENST00000362063.2	-	2	1064	c.746A>C	c.(745-747)aAg>aCg	p.K249T	ZNF652_ENST00000430262.2_Missense_Mutation_p.K249T	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			CCTGGGGCACTTCTCACAGGT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	146	155			NA	NA	17		NA											NA				47394342		2203	4300	6503	SO:0001583	missense			AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740	22834	22834		Zinc fingers, C2H2-type	29147	protein-coding gene	gene with protein product		613907			NA	10231032	Standard	NM_014897	NM_014897	NA	Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.746A>C	17.37:g.47394342T>G	ENSP00000354686:p.Lys249Thr	NA	A4QPD9|Q5H9Q0	37	CCDS32677.1	.	.	.	.	.	.	.	.	.	.	T	19.47	3.833468	0.71258	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	T;T	0.52295	0.67;0.67	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.52041	0.1710	N	0.11789	0.175	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.60895	-0.7172	10	0.66056	D	0.02	-21.598	15.4338	0.75125	0.0:0.0:0.0:1.0	.	249	Q9Y2D9	ZN652_HUMAN	T	249	ENSP00000354686:K249T;ENSP00000416305:K249T	ENSP00000354686:K249T	K	-	2	0	ZNF652	44749341	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.132000	0.65825	0.533000	0.62120	AAG	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364524.1		-	ENST00000362063.2	Missense_Mutation	SNP	17 : 47394342 - 47394342 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	507	47
GPRIN3	285513	broad.mit.edu	37	4	90170801	90170801	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90170801G>A	ENST00000609438.1	-	2	979	c.461C>T	c.(460-462)tCc>tTc	p.S154F	GPRIN3_ENST00000333209.4_Missense_Mutation_p.S154F	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	NA										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TCTCATCAGGGAATCTTCAGG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	155	157			NA	NA	4		NA											NA				90170801		2203	4300	6503	SO:0001583	missense			AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477	285513	285513			27733	protein-coding gene	gene with protein product		611241			NA	15488195	Standard	NM_198281	NM_198281	NA	Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.461C>T	4.37:g.90170801G>A	ENSP00000476603:p.Ser154Phe	NA	Q8IVE4	37	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115217	0.37339	.	.	ENSG00000185477	ENST00000333209	T	0.14144	2.53	4.98	3.27	0.37495	.	1.263240	0.06064	N	0.658931	T	0.12347	0.0300	N	0.24115	0.695	0.09310	N	1	B	0.14012	0.009	B	0.17098	0.017	T	0.34204	-0.9838	10	0.72032	D	0.01	0.6284	10.0464	0.42188	0.1562:0.0:0.8438:0.0	.	154	Q6ZVF9	GRIN3_HUMAN	F	154	ENSP00000328672:S154F	ENSP00000328672:S154F	S	-	2	0	GPRIN3	90389824	0.001000	0.12720	0.001000	0.08648	0.008000	0.06430	0.839000	0.27586	0.815000	0.34398	-0.145000	0.13849	TCC	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363540.2		-	ENST00000609438.1	Missense_Mutation	SNP	4 : 90170801 - 90170801 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	681	129
MYL3	4634	broad.mit.edu	37	3	46904811	46904811	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46904811C>T	ENST00000395869.1	-	1	121	c.70G>A	c.(70-72)Gca>Aca	p.A24T	MYL3_ENST00000292327.4_Missense_Mutation_p.A24T			P08590	MYL3_HUMAN	myosin, light chain 3, alkali; ventricular, skeletal, slow	24					cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|cytosol|I band|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		GGGGGAGGTGCGGGAGCTGGA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(166;130 1949 2249 18977 46142)							NA				0													86	91	89			NA	NA	3		NA											NA				46904811		2203	4300	6503	SO:0001583	missense				CCDS2746.1	3p	2014-09-17	2006-09-29		ENSG00000160808	ENSG00000160808	4634	4634		Myosins / Light chain, EF-hand domain containing	7584	protein-coding gene	gene with protein product		160790	myosin, light polypeptide 3, alkali; ventricular, skeletal, slow		NA	1479618, 2784124	Standard	NM_000258	NM_000258	NA	Approved	CMH8, VLC1, MLC1V, MLC1SB	uc003cql.1	P08590	OTTHUMG00000133516	ENST00000395869.1:c.70G>A	3.37:g.46904811C>T	ENSP00000379210:p.Ala24Thr	NA	B2R534|Q9NRS8	37	CCDS2746.1	.	.	.	.	.	.	.	.	.	.	C	8.087	0.773711	0.16051	.	.	ENSG00000160808	ENST00000395869;ENST00000292327;ENST00000431168	D;D	0.84298	-1.83;-1.83	2.95	2.07	0.26955	.	0.492773	0.19873	N	0.104154	T	0.80773	0.4687	M	0.78801	2.425	0.09310	N	1	B	0.19583	0.037	B	0.04013	0.001	T	0.65438	-0.6168	10	0.23891	T	0.37	-12.4256	5.9945	0.19487	0.0:0.8539:0.0:0.1461	.	24	P08590	MYL3_HUMAN	T	24	ENSP00000379210:A24T;ENSP00000292327:A24T	ENSP00000292327:A24T	A	-	1	0	MYL3	46879815	0.899000	0.30636	0.059000	0.19551	0.180000	0.23129	1.459000	0.35234	0.836000	0.34901	-0.258000	0.10820	GCA	MYL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000259165.2		-	ENST00000395869.1	Missense_Mutation	SNP	3 : 46904811 - 46904811 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	585	21
ESF1	51575	broad.mit.edu	37	20	13714488	13714488	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13714488A>C	ENST00000202816.1	-	10	1937	c.1830T>G	c.(1828-1830)ggT>ggG	p.G610G		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	610	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TTTCTTTAAGACCTGAGGAAA	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	139	137			NA	NA	20		NA											NA				13714488		2203	4299	6502	SO:0001630	splice_region_variant				CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048	51575	51575			15898	protein-coding gene	gene with protein product			chromosome 20 open reading frame 6	C20orf6	NA		Standard	NM_016649	NM_016649	NA	Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.1829-1T>G	20.37:g.13714488A>C		NA	Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	37	CCDS13117.1																																																																																			ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078049.1	Silent	-	ENST00000202816.1	Splice_Site	SNP	20 : 13714488 - 13714488 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	535	109
ATP8A1	10396	broad.mit.edu	37	4	42577717	42577717	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42577717C>A	ENST00000381668.5	-	13	1360		c.e13-1		ATP8A1_ENST00000264449.10_Splice_Site	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	NA					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TGTCAAGATCCTTTAATAAAA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	154	152			NA	NA	4		NA											NA				42577717		2203	4300	6503	SO:0001630	splice_region_variant			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406	10396	10396		ATPases / P-type	13531	protein-coding gene	gene with protein product		609542	ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1		NA	10198212, 9548971	Standard	NM_006095	NM_006095	NA	Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1129-1G>T	4.37:g.42577717C>A		NA	Q32M36|Q4W5J7|Q4W5P2	37	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724430	0.89298	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATP8A1	42272474	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.707000	0.84623	2.885000	0.99019	0.655000	0.94253	.	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216861.2	Intron	-	ENST00000381668.5	Splice_Site	SNP	4 : 42577717 - 42577717 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	649	101
SAMD3	154075	broad.mit.edu	37	6	130497140	130497140	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:130497140C>T	ENST00000532763.1	-	7	791	c.662G>A	c.(661-663)cGa>cAa	p.R221Q	SAMD3_ENST00000368134.2_Missense_Mutation_p.R223Q|SAMD3_ENST00000437477.2_Missense_Mutation_p.R223Q|SAMD3_ENST00000457563.2_Missense_Mutation_p.R247Q|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000439090.2_Missense_Mutation_p.R223Q			Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	223										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TTTGAGGGCTCGTTTCCATAA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	84	85			NA	NA	6		NA											NA				130497140		2203	4299	6502	SO:0001583	missense			AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483	154075	154075		Sterile alpha motif (SAM) domain containing	21574	protein-coding gene	gene with protein product					NA		Standard	NM_152552	NM_001017373	NA	Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000532763.1:c.662G>A	6.37:g.130497140C>T	ENSP00000436088:p.Arg221Gln	NA	E1P576|Q4VXD8|Q8NAY1|Q8NB96	37		.	.	.	.	.	.	.	.	.	.	C	29.6	5.020104	0.93462	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477;ENST00000532763	T;T;T;T;T	0.46819	1.0;0.99;1.0;1.0;0.86	5.69	5.69	0.88448	.	0.000000	0.52532	D	0.000073	T	0.54481	0.1861	L	0.53729	1.69	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.40813	-0.9543	10	0.19147	T	0.46	.	17.9821	0.89145	0.0:1.0:0.0:0.0	.	223	Q8N6K7	SAMD3_HUMAN	Q	223;247;223;223;221	ENSP00000357116:R223Q;ENSP00000402092:R247Q;ENSP00000403565:R223Q;ENSP00000391163:R223Q;ENSP00000436088:R221Q	ENSP00000357116:R223Q	R	-	2	0	SAMD3	130538833	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.019000	0.64060	2.677000	0.91161	0.655000	0.94253	CGA	SAMD3-007	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000390202.1		-	ENST00000532763.1	Missense_Mutation	SNP	6 : 130497140 - 130497140 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	382	79
PRAM1	84106	broad.mit.edu	37	19	8555099	8555099	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8555099T>G	ENST00000423345.4	-	10	2507	c.1987A>C	c.(1987-1989)Aac>Cac	p.N663H	PRAM1_ENST00000255612.3_Missense_Mutation_p.N662H			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	711	SH3.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						AGTGGTTGGTTTTCCAGGGGA	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	35	33			NA	NA	19		NA											NA				8555099		2176	4286	6462	SO:0001583	missense			BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246	84106	84106			30091	protein-coding gene	gene with protein product		606466			NA	11301322, 15572693	Standard	NM_032152	NM_032152	NA	Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.1987A>C	19.37:g.8555099T>G	ENSP00000408342:p.Asn663His	NA	Q8N6W7	37	CCDS45954.2	.	.	.	.	.	.	.	.	.	.	T	15.42	2.827215	0.50739	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.15372	2.43;2.43	3.65	3.65	0.41850	.	0.703582	0.12135	N	0.496399	T	0.15132	0.0365	N	0.08118	0	0.09310	N	1	D;D	0.59767	0.965;0.986	P;P	0.54100	0.66;0.742	T	0.11084	-1.0602	10	0.62326	D	0.03	.	8.9598	0.35840	0.0:0.0:0.0:1.0	.	663;711	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	H	662;663	ENSP00000255612:N662H;ENSP00000408342:N663H	ENSP00000255612:N662H	N	-	1	0	PRAM1	8461099	0.008000	0.16893	0.010000	0.14722	0.029000	0.11900	1.219000	0.32479	1.887000	0.54652	0.379000	0.24179	AAC	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397040.3		-	ENST00000423345.4	Missense_Mutation	SNP	19 : 8555099 - 8555099 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	89	14
WNT2B	7482	broad.mit.edu	37	1	113059749	113059749	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113059749C>T	ENST00000369686.5	+	5	735	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	WNT2B_ENST00000256640.5_Missense_Mutation_p.R138W|WNT2B_ENST00000369684.4_Missense_Mutation_p.R230W	NM_004185.3	NP_004176.2	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	NA					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCAGGCTGTGCGGCGGTTTCT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	71	74			NA	NA	1		NA											NA				113059749		2203	4300	6503	SO:0001583	missense			AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245	7482	7482		Wingless-type MMTV integration sites	12781	protein-coding gene	gene with protein product	XWNT2, Xenopus, homolog of, wingless-type MMTV integration site family, member 13	601968		WNT13	NA	8761309, 10944466	Standard	NM_004185	NM_024494	NA	Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369686.5:c.631C>T	1.37:g.113059749C>T	ENSP00000358700:p.Arg211Trp	NA	O14903|Q5TEI2|Q9HDC1|Q9HDC2	37	CCDS846.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525675	0.64860	.	.	ENSG00000134245	ENST00000256640;ENST00000369686;ENST00000369684	T;T;T	0.76839	-1.05;-1.05;-1.05	5.53	5.53	0.82687	.	0.050131	0.85682	D	0.000000	T	0.54224	0.1845	L	0.29908	0.895	0.43317	D	0.995338	B;B	0.17852	0.024;0.02	B;B	0.14023	0.01;0.006	T	0.55179	-0.8181	10	0.39692	T	0.17	.	12.383	0.55317	0.2786:0.7214:0.0:0.0	.	230;211	Q93097;Q93097-2	WNT2B_HUMAN;.	W	138;211;230	ENSP00000256640:R138W;ENSP00000358700:R211W;ENSP00000358698:R230W	ENSP00000256640:R138W	R	+	1	2	WNT2B	112861272	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	3.692000	0.54727	2.599000	0.87857	0.555000	0.69702	CGG	WNT2B-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000030691.2		+	ENST00000369686.5	Missense_Mutation	SNP	1 : 113059749 - 113059749 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	95
CPEB4	80315	broad.mit.edu	37	5	173316988	173316988	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:173316988A>G	ENST00000265085.5	+	1	1706	c.252A>G	c.(250-252)caA>caG	p.Q84Q	CPEB4_ENST00000519835.1_Silent_p.Q84Q|CPEB4_ENST00000520867.1_Silent_p.Q84Q|CPEB4_ENST00000334035.5_Silent_p.Q84Q	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	84							nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AAAGTCAGCAACAGGAACAGC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	100	98			NA	NA	5		NA											NA				173316988		2203	4300	6503	SO:0001819	synonymous_variant			BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742	80315	80315		RNA binding motif (RRM) containing	21747	protein-coding gene	gene with protein product		610607			NA	11214970, 12672660	Standard	NM_030627	NM_030627	NA	Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.252A>G	5.37:g.173316988A>G		NA	B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	37	CCDS4390.1																																																																																			CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252964.2		+	ENST00000265085.5	Silent	SNP	5 : 173316988 - 173316988 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	705	63
PCGF6	84108	broad.mit.edu	37	10	105063703	105063703	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105063703G>T	ENST00000369847.3	-	10	1079	c.1012C>A	c.(1012-1014)Ctt>Att	p.L338I	PCGF6_ENST00000337211.4_Missense_Mutation_p.L263I|PCGF6_ENST00000490296.1_5'UTR	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6	338					negative regulation of transcription, DNA-dependent	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		CCATAATGAAGGACAAGCAGA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	103	108			NA	NA	10		NA											NA				105063703		2203	4300	6503	SO:0001583	missense			AB047006	CCDS7546.1, CCDS31275.1	10q24.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000156374	ENSG00000156374	84108	84108		RING-type (C3HC4) zinc fingers, Polycomb group ring fingers	21156	protein-coding gene	gene with protein product		607816	ring finger protein 134	RNF134	NA	12167161	Standard	NM_032154	NM_032154	NA	Approved	MBLR	uc001kwt.3	Q9BYE7	OTTHUMG00000018982	ENST00000369847.3:c.1012C>A	10.37:g.105063703G>T	ENSP00000358862:p.Leu338Ile	NA	A8K3R4|Q5SYD1|Q5SYD6|Q96ID9|Q96SJ1	37	CCDS31275.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921880	0.73213	.	.	ENSG00000156374	ENST00000369847;ENST00000337211	T;T	0.56275	0.48;0.47	5.34	5.34	0.76211	.	0.066550	0.64402	N	0.000008	T	0.75177	0.3814	M	0.86651	2.83	0.31572	N	0.656259	D;D	0.67145	0.996;0.993	D;D	0.73708	0.978;0.981	T	0.80808	-0.1217	10	0.72032	D	0.01	.	14.5467	0.68035	0.0:0.0:1.0:0.0	.	263;338	Q9BYE7-3;Q9BYE7	.;PCGF6_HUMAN	I	338;263	ENSP00000358862:L338I;ENSP00000338845:L263I	ENSP00000338845:L263I	L	-	1	0	PCGF6	105053693	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	5.024000	0.64090	2.510000	0.84645	0.555000	0.69702	CTT	PCGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050132.1		-	ENST00000369847.3	Missense_Mutation	SNP	10 : 105063703 - 105063703 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	12
ASNSD1	54529	broad.mit.edu	37	2	190531602	190531602	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190531602G>A	ENST00000260952.4	+	4	1157	c.744G>A	c.(742-744)ttG>ttA	p.L248L	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	248					asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			ATATGATGTTGCCACAAGCTG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	91	90			NA	NA	2		NA											NA				190531602		2202	4298	6500	SO:0001819	synonymous_variant			AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381	54529	54529			24910	protein-coding gene	gene with protein product					NA		Standard	NM_019048	NM_019048	NA	Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.744G>A	2.37:g.190531602G>A		NA	D3DPH6|Q3LIC3|Q4ZG45	37	CCDS2300.1																																																																																			ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255919.3		+	ENST00000260952.4	Silent	SNP	2 : 190531602 - 190531602 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	678	113
CTSH	1512	broad.mit.edu	37	15	79224731	79224731	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79224731C>T	ENST00000220166.5	-	6	584	c.475G>A	c.(475-477)Gga>Aga	p.G159R	CTSH_ENST00000534533.1_5'UTR	NM_004390.3	NP_004381.2	P09668	CATH_HUMAN	cathepsin H	159					protein destabilization|proteolysis	lysosome	cysteine-type endopeptidase activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						AGCATCTTTCCGGTTGCGATG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	71	72			NA	NA	15		NA											NA				79224731		2196	4293	6489	SO:0001583	missense			X07549	CCDS10308.1	15q25.1	2014-01-28			ENSG00000103811	ENSG00000103811	1512	1512	3.4.22.16	Cathepsins	2535	protein-coding gene	gene with protein product		116820		CPSB	NA	2849458	Standard	NM_004390	NM_004390	NA	Approved	ACC-4, ACC-5	uc021srk.1	P09668	OTTHUMG00000144171	ENST00000220166.5:c.475G>A	15.37:g.79224731C>T	ENSP00000220166:p.Gly159Arg	NA	B2RBK0|Q9BUM7	37	CCDS10308.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893569	0.52121	.	.	ENSG00000103811	ENST00000220166;ENST00000394758;ENST00000528741	T;T	0.27402	1.67;1.67	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.63177	0.2489	M	0.92219	3.285	0.58432	D	0.999998	D	0.89917	1.0	D	0.76071	0.987	T	0.72551	-0.4259	10	0.66056	D	0.02	.	13.2051	0.59790	0.0:1.0:0.0:0.0	.	147	E9PBP2	.	R	159;147;83	ENSP00000220166:G159R;ENSP00000435329:G83R	ENSP00000220166:G159R	G	-	1	0	CTSH	77011786	0.999000	0.42202	0.317000	0.25265	0.177000	0.22998	4.443000	0.59994	2.155000	0.67459	0.655000	0.94253	GGA	CTSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000291370.1		-	ENST00000220166.5	Missense_Mutation	SNP	15 : 79224731 - 79224731 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	268	44
TNFRSF11B	4982	broad.mit.edu	37	8	119936933	119936933	+	Missense_Mutation	SNP	G	G	A	rs145316984		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:119936933G>A	ENST00000297350.4	-	5	1264	c.886C>T	c.(886-888)Cgt>Tgt	p.R296C		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	296	Death 2.				apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			ATCAAGCTACGAAGCTGCTCG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/ARG	0,4406		0,0,2203	127	102	110		886	3.9	0	8	dbSNP_134	110	1,8599	1.2+/-3.3	0,1,4299	no	missense	TNFRSF11B	NM_002546.3	180	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	296/402	119936933	1,13005	2203	4300	6503	SO:0001583	missense			U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761	4982	4982		Tumor necrosis factor receptor superfamily	11909	protein-coding gene	gene with protein product		602643	osteoprotegerin	OPG	NA	9108485	Standard		NM_002546	NA	Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.886C>T	8.37:g.119936933G>A	ENSP00000297350:p.Arg296Cys	NA	B2R9A8|O60236|Q53FX6|Q9UHP4	37	CCDS6326.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.831937	0.32421	0.0	1.16E-4	ENSG00000164761	ENST00000297350	D	0.87179	-2.22	5.74	3.91	0.45181	Death (1);	1.391200	0.03735	N	0.254055	D	0.85444	0.5698	L	0.43152	1.355	0.09310	N	1	D	0.55172	0.97	P	0.47206	0.541	T	0.70691	-0.4802	9	.	.	.	-1.5943	4.7775	0.13187	0.0732:0.1069:0.4216:0.3984	.	296	O00300	TR11B_HUMAN	C	296	ENSP00000297350:R296C	.	R	-	1	0	TNFRSF11B	120006114	0.009000	0.17119	0.003000	0.11579	0.624000	0.37722	1.152000	0.31663	0.840000	0.34995	0.563000	0.77884	CGT	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381220.1		-	ENST00000297350.4	Missense_Mutation	SNP	8 : 119936933 - 119936933 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	344	81
PAK7	57144	broad.mit.edu	37	20	9538310	9538310	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:9538310C>A	ENST00000378429.3	-	8	2234	c.1688G>T	c.(1687-1689)gGa>gTa	p.G563V	PAK7_ENST00000353224.5_Missense_Mutation_p.G563V|PAK7_ENST00000378423.1_Missense_Mutation_p.G563V	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	563	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GTGAATCACTCCTTGGTTATG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	123	130			NA	NA	20		NA											NA				9538310		2203	4300	6503	SO:0001583	missense			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349	57144	57144			15916	protein-coding gene	gene with protein product		608038	p21(CDKN1A)-activated kinase 7		NA	11756552, 10574462	Standard		NM_020341	NA	Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1688G>T	20.37:g.9538310C>A	ENSP00000367686:p.Gly563Val	NA	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	37	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047858	0.93740	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.16897	2.31;2.31;2.31	5.69	5.69	0.88448	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.58032	0.2094	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70992	-0.4721	9	.	.	.	.	19.8171	0.96573	0.0:1.0:0.0:0.0	.	563;563	B0AZM9;Q9P286	.;PAK7_HUMAN	V	563;563;563;511	ENSP00000367686:G563V;ENSP00000322957:G563V;ENSP00000367679:G563V	.	G	-	2	0	PAK7	9486310	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.678000	0.91216	0.643000	0.83706	GGA	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077962.1		-	ENST00000378429.3	Missense_Mutation	SNP	20 : 9538310 - 9538310 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	425	85
KCNE1	3753	broad.mit.edu	37	21	35821672	35821672	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35821672C>T	ENST00000337385.3	-	3	636	c.261G>A	c.(259-261)tgG>tgA	p.W87*	KCNE1_ENST00000432085.1_Nonsense_Mutation_p.W87*|KCNE1_ENST00000399286.2_Nonsense_Mutation_p.W87*|KCNE1_ENST00000399284.1_Nonsense_Mutation_p.W87*|KCNE1_ENST00000416357.2_Nonsense_Mutation_p.W87*|KCNE1_ENST00000399289.3_Nonsense_Mutation_p.W87*	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1	87			W -> R (in LQT5).		blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	CCTTCTCTTGCCAGGCATCGG	0.552		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	21		NA											NA				35821672		2203	4300	6503	SO:0001587	stop_gained			L28168	CCDS13636.1	21q22.1-q22.2	2014-09-17			ENSG00000180509	ENSG00000180509	3753	3753		Potassium channels	6240	protein-coding gene	gene with protein product		176261			NA	8432548	Standard		NM_001127670	NA	Approved	minK, ISK, JLNS2, LQT5	uc010gmp.4	P15382	OTTHUMG00000086236	ENST00000337385.3:c.261G>A	21.37:g.35821672C>T	ENSP00000337255:p.Trp87*	NA	A5H1P2|Q8N709|Q91Z94	37	CCDS13636.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735347	0.89482	.	.	ENSG00000180509	ENST00000399289;ENST00000337385;ENST00000432085;ENST00000399286;ENST00000416357;ENST00000399284	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2752	18.2469	0.89989	0.0:1.0:0.0:0.0	.	.	.	.	X	87	.	ENSP00000337255:W87X	W	-	3	0	KCNE1	34743542	1.000000	0.71417	1.000000	0.80357	0.054000	0.15201	6.189000	0.72051	2.398000	0.81561	0.591000	0.81541	TGG	KCNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000194155.1		-	ENST00000337385.3	Nonsense_Mutation	SNP	21 : 35821672 - 35821672 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	434	94
ARL4C	10123	broad.mit.edu	37	2	235404671	235404671	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:235404671T>G	ENST00000390645.2	-	1	1026	c.560A>C	c.(559-561)aAg>aCg	p.K187T	ARL4C_ENST00000339728.3_Missense_Mutation_p.K187T	NM_005737.3	NP_005728.2	P56559	ARL4C_HUMAN	ADP-ribosylation factor-like 4C	187					endocytic recycling|small GTPase mediated signal transduction	cytoplasm|filopodium|nucleus|plasma membrane	alpha-tubulin binding|GTP binding|GTPase activity			endometrium(1)|ovary(1)|skin(1)|urinary_tract(1)	4		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)		CTTCTTCTGCTTGAGGGACTT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(157;1837 2534 13028 22831)							NA				0													42	44	43			NA	NA	2		NA											NA				235404671		1972	4153	6125	SO:0001583	missense			AB016811	CCDS2512.1, CCDS63169.1	2q37.2	2014-05-09	2005-11-03	2005-11-03	ENSG00000188042	ENSG00000188042	10123	10123		ADP-ribosylation factors-like, ADP-ribosylation factors	698	protein-coding gene	gene with protein product		604787	ADP-ribosylation factor-like 7	ARL7	NA		Standard		NM_005737	NA	Approved	LAK	uc002vvn.3	P56559	OTTHUMG00000133291	ENST00000390645.2:c.560A>C	2.37:g.235404671T>G	ENSP00000375057:p.Lys187Thr	NA	Q53R10|Q9BVN1|Q9UQ34	37	CCDS2512.1	.	.	.	.	.	.	.	.	.	.	T	18.14	3.557128	0.65425	.	.	ENSG00000188042	ENST00000390645;ENST00000339728	T;T	0.69040	-0.37;-0.35	4.22	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.75443	0.3850	L	0.52905	1.665	0.47994	D	0.999565	P;D	0.57899	0.947;0.981	P;D	0.65140	0.727;0.932	T	0.78196	-0.2298	10	0.87932	D	0	-13.7263	12.4319	0.55578	0.0:0.0:0.0:1.0	.	187;187	P56559;Q4A519	ARL4C_HUMAN;.	T	187	ENSP00000375057:K187T;ENSP00000339754:K187T	ENSP00000339754:K187T	K	-	2	0	ARL4C	235069410	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.993000	0.70616	1.679000	0.50963	0.455000	0.32223	AAG	ARL4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257073.1		-	ENST00000390645.2	Missense_Mutation	SNP	2 : 235404671 - 235404671 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	346	59
LRRC55	219527	broad.mit.edu	37	11	56950046	56950046	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56950046G>A	ENST00000497933.1	+	1	826	c.679G>A	c.(679-681)Ggc>Agc	p.G227S		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	197	LRRCT.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GGCTCTTGAGGGCCTACCGGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	72	72			NA	NA	11		NA											NA				56950046		2201	4296	6497	SO:0001583	missense				CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908	219527	219527			32324	protein-coding gene	gene with protein product		615213			NA		Standard	NM_001005210	NM_001005210	NA	Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.679G>A	11.37:g.56950046G>A	ENSP00000419542:p.Gly227Ser	NA	A7E2U7|B2RN81	37	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998161	0.54147	.	.	ENSG00000183908	ENST00000497933	T	0.02369	4.32	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000009	T	0.03220	0.0094	N	0.10782	0.045	0.32159	N	0.583233	B	0.25441	0.126	B	0.40864	0.342	T	0.47275	-0.9130	10	0.14252	T	0.57	.	14.3899	0.66970	0.0:0.1479:0.8521:0.0	.	197	Q6ZSA7	LRC55_HUMAN	S	227	ENSP00000419542:G227S	ENSP00000419542:G227S	G	+	1	0	LRRC55	56706622	1.000000	0.71417	0.996000	0.52242	0.810000	0.45777	3.068000	0.50018	2.724000	0.93272	0.561000	0.74099	GGC	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354503.2		+	ENST00000497933.1	Missense_Mutation	SNP	11 : 56950046 - 56950046 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	671	36
PRKCB	5579	broad.mit.edu	37	16	23847551	23847551	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23847551C>T	ENST00000303531.7	+	1	207	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C	PRKCB_ENST00000321728.7_Missense_Mutation_p.R19C|PRKCB_ENST00000498058.1_Missense_Mutation_p.R19C	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	19					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)	GAGCACCGTGCGCTTCGCCCG	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	46	48			NA	NA	16		NA											NA				23847551		2197	4300	6497	SO:0001583	missense			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	ENST00000303531.7:c.55C>T	16.37:g.23847551C>T	ENSP00000305355:p.Arg19Cys	NA	C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	37	CCDS10619.1	.	.	.	.	.	.	.	.	.	.	c	15.36	2.811300	0.50527	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	D;D	0.88975	-2.45;-2.45	3.71	3.71	0.42584	.	0.166541	0.39020	U	0.001498	D	0.92851	0.7726	M	0.66939	2.045	0.51767	D	0.999935	D;D	0.89917	1.0;1.0	D;D	0.79784	0.966;0.993	D	0.93132	0.6534	10	0.56958	D	0.05	.	13.3189	0.60423	0.0:1.0:0.0:0.0	.	19;19	P05771-2;P05771	.;KPCB_HUMAN	C	19	ENSP00000318315:R19C;ENSP00000305355:R19C	ENSP00000305355:R19C	R	+	1	0	PRKCB	23755052	1.000000	0.71417	0.998000	0.56505	0.038000	0.13279	4.341000	0.59335	1.768000	0.52137	0.558000	0.71614	CGC	PRKCB-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254505.1		+	ENST00000303531.7	Missense_Mutation	SNP	16 : 23847551 - 23847551 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	88
KIRREL	55243	broad.mit.edu	37	1	158064849	158064849	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158064849A>G	ENST00000368172.1	+	11	1667	c.1655A>G	c.(1654-1656)tAc>tGc	p.Y552C	KIRREL_ENST00000416935.2_Missense_Mutation_p.Y638C|KIRREL_ENST00000368173.3_Missense_Mutation_p.Y754C|KIRREL_ENST00000392272.2_Missense_Mutation_p.Y635C|KIRREL_ENST00000359209.6_Missense_Mutation_p.Y738C|KIRREL_ENST00000360089.4_Missense_Mutation_p.Y574C			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	738						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CGATTCTCCTACACCTCCCAG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	41	43			NA	NA	1		NA											NA				158064849		2203	4300	6503	SO:0001583	missense			AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853	55243	55243		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	15734	protein-coding gene	gene with protein product	nephrin-like protein 1	607428			NA	12424224	Standard	NM_018240	NM_001286349	NA	Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000368172.1:c.1655A>G	1.37:g.158064849A>G	ENSP00000357154:p.Tyr552Cys	NA	Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	37		.	.	.	.	.	.	.	.	.	.	A	21.2	4.111895	0.77210	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;D;D;D;D;T	0.86497	-1.15;-2.13;-1.55;-1.74;-1.68;-1.37	5.0	5.0	0.66597	.	0.000000	0.39274	N	0.001417	D	0.85890	0.5802	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.85130	0.997;0.997;0.995;0.997	D	0.87188	0.2232	10	0.45353	T	0.12	-20.5602	12.6627	0.56824	1.0:0.0:0.0:0.0	.	638;574;552;738	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	C	574;754;635;738;638;552	ENSP00000353202:Y574C;ENSP00000357155:Y754C;ENSP00000376098:Y635C;ENSP00000352138:Y738C;ENSP00000389674:Y638C;ENSP00000357154:Y552C	ENSP00000352138:Y738C	Y	+	2	0	KIRREL	156331473	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.605000	0.90883	1.881000	0.54492	0.459000	0.35465	TAC	KIRREL-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000058344.2		+	ENST00000368172.1	Missense_Mutation	SNP	1 : 158064849 - 158064849 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	176	43
RICTOR	253260	broad.mit.edu	37	5	38953136	38953136	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38953136G>A	ENST00000357387.3	-	29	2878	c.2848C>T	c.(2848-2850)Cca>Tca	p.P950S	RICTOR_ENST00000296782.5_Missense_Mutation_p.P950S	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	950					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AGTATATCTGGAATCACGTTT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													177	177	177			NA	NA	5		NA											NA				38953136		2203	4300	6503	SO:0001583	missense				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327	253260	253260			28611	protein-coding gene	gene with protein product	rapamycin-insensitive companion of mTOR, pianissimo	609022			NA	12477932	Standard	NM_152756	XM_005248278	NA	Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.2848C>T	5.37:g.38953136G>A	ENSP00000349959:p.Pro950Ser	NA	B2RNX0|B7ZMF7|Q68DT5|Q86UB7|Q8N3A0|Q8NCM6	37	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961496	0.92791	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.68025	-0.3;-0.3	5.53	5.53	0.82687	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78978	0.4369	L	0.45581	1.43	0.80722	D	1	P;D	0.89917	0.741;1.0	P;D	0.87578	0.554;0.998	T	0.79773	-0.1662	10	0.87932	D	0	-14.0935	19.8174	0.96576	0.0:0.0:1.0:0.0	.	950;950	Q6R327;Q6R327-3	RICTR_HUMAN;.	S	950	ENSP00000349959:P950S;ENSP00000296782:P950S	ENSP00000296782:P950S	P	-	1	0	RICTOR	38988893	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.233000	0.95337	2.757000	0.94681	0.591000	0.81541	CCA	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366985.1		-	ENST00000357387.3	Missense_Mutation	SNP	5 : 38953136 - 38953136 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	497	55
ATP12A	479	broad.mit.edu	37	13	25264578	25264578	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25264578G>A	ENST00000381946.3	+	6	816	c.649G>A	c.(649-651)Gac>Aac	p.D217N	ATP12A_ENST00000218548.6_Missense_Mutation_p.D217N			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	217					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GATCCCTGCAGACATCAGGGT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(156;1582 1935 18898 22665 26498)							NA				0													91	85	87			NA	NA	13		NA											NA				25264578		2203	4300	6503	SO:0001583	missense			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	479	479	3.6.3.10	ATPases / P-type	13816	protein-coding gene	gene with protein product	ATPase, Na+K+ transporting, alpha-1 polypeptide-like, potassium-transporting ATPase alpha chain 2, proton pump, non-gastric H(+)/K(+) ATPase alpha subunit, sodium/potassium ATPase, alpha polypeptide-like	182360	ATPase, Na+/K+ transporting, alpha polypeptide-like 1	ATP1AL1	NA	8838794, 2842249	Standard	NM_001676	NM_001676	NA	Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.649G>A	13.37:g.25264578G>A	ENSP00000371372:p.Asp217Asn	NA	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	37	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.024448	0.93518	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.99042	-5.36;-5.36	4.73	4.73	0.59995	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.64402	D	0.000001	D	0.99708	0.9888	H	0.99962	5.075	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.76071	0.987;0.92	D	0.96736	0.9543	10	0.87932	D	0	.	15.2818	0.73790	0.0:0.0:1.0:0.0	.	217;217	P54707-2;P54707	.;AT12A_HUMAN	N	217	ENSP00000218548:D217N;ENSP00000371372:D217N	ENSP00000218548:D217N	D	+	1	0	ATP12A	24162578	1.000000	0.71417	0.985000	0.45067	0.945000	0.59286	9.371000	0.97162	2.445000	0.82738	0.643000	0.83706	GAC	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044199.1		+	ENST00000381946.3	Missense_Mutation	SNP	13 : 25264578 - 25264578 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	486	74
MROH1	727957	broad.mit.edu	37	8	145235357	145235357	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145235357G>A	ENST00000528919.1	+	6	614	c.493G>A	c.(493-495)Gtc>Atc	p.V165I	MROH1_ENST00000326134.5_Missense_Mutation_p.V165I|MROH1_ENST00000398656.4_Missense_Mutation_p.V165I|MROH1_ENST00000423230.2_Missense_Mutation_p.V165I|MROH1_ENST00000534366.1_Missense_Mutation_p.V165I	NM_032450.2	NP_115826			maestro heat-like repeat family member 1	NA								p.V165I(1)			NA						CCTGCCATCCGTCCTGAGCTC	0.677		NA											G	1	5e-04	NA	NA	2184	0.0017	0.9986	,	,	NA	4e-04	NA	NA	NA	0.0012	0.49	LOWCOV	NA	NA	0.0015	SNP								NA				1	Substitution - Missense(1)	endometrium(1)						G	ILE/VAL,ILE/VAL,ILE/VAL	1,4353		0,1,2176	89	94	92		493,493,493	2.8	1	8		92	0,8500		0,0,4250	no	missense,missense,missense	HEATR7A	NM_001099280.1,NM_001099281.1,NM_032450.2	29,29,29	0,1,6426	AA,AG,GG	NA	0.0,0.023,0.0078	benign,benign,benign	165/423,165/423,165/1642	145235357	1,12853	2177	4250	6427	SO:0001583	missense				CCDS47938.1, CCDS47939.1, CCDS75803.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000179832	ENSG00000179832	727957	727957		maestro heat-like repeat containing	26958	protein-coding gene	gene with protein product			HEAT repeat containing 7A	HEATR7A	NA	11347906	Standard	NM_032450	NM_032450	NA	Approved	KIAA1833	uc003zbk.4	Q8NDA8	OTTHUMG00000165781	ENST00000528919.1:c.493G>A	8.37:g.145235357G>A	ENSP00000435565:p.Val165Ile	NA		37	CCDS47938.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	3.000	-0.206197	0.06180	2.3E-4	0.0	ENSG00000179832	ENST00000423230;ENST00000398656;ENST00000534366;ENST00000528919;ENST00000326134;ENST00000356585	T;T;T;T;T	0.62498	3.3;0.02;0.02;0.02;0.02	5.42	2.85	0.33270	Armadillo-type fold (1);	0.157571	0.38164	N	0.001795	T	0.19046	0.0457	N	0.00275	-1.725	0.80722	D	1	B;B;B;B;B	0.22746	0.001;0.0;0.0;0.004;0.074	B;B;B;B;B	0.15484	0.003;0.0;0.0;0.012;0.013	T	0.35500	-0.9786	10	0.02654	T	1	.	8.4312	0.32759	0.8335:0.0:0.1665:0.0	.	165;165;165;165;165	Q8NDA8-2;E9PHY8;Q8NDA8;Q8NDA8-4;Q8NDA8-5	.;.;HTR7A_HUMAN;.;.	I	165;165;165;165;165;97	ENSP00000388174:V165I;ENSP00000381649:V165I;ENSP00000436636:V165I;ENSP00000435565:V165I;ENSP00000321737:V165I	ENSP00000321737:V165I	V	+	1	0	HEATR7A	145307345	0.997000	0.39634	0.998000	0.56505	0.282000	0.26991	1.985000	0.40668	0.434000	0.26340	-0.459000	0.05422	GTC	MROH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386183.1		+	ENST00000528919.1	Missense_Mutation	SNP	8 : 145235357 - 145235357 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	469	75
USP41	373856	broad.mit.edu	37	22	20729862	20729862	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20729862C>T	ENST00000454608.2	-	6	317	c.318G>A	c.(316-318)ctG>ctA	p.L106L						ubiquitin specific peptidase 41	NA										endometrium(1)|kidney(1)|lung(2)|skin(1)	5						TCTTCTCCAGCAGCAGAAGCA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001819	synonymous_variant			AJ586979		22q11.22	2011-01-31	2005-08-08		ENSG00000161133	ENSG00000161133	373856	373856		Ubiquitin-specific peptidases	20070	protein-coding gene	gene with protein product			ubiquitin specific protease 41		NA	12838346	Standard	XM_036729	XM_006710116	NA	Approved		uc011ahq.1	Q3LFD5	OTTHUMG00000151317	ENST00000454608.2:c.318G>A	22.37:g.20729862C>T		NA		37		.	.	.	.	.	.	.	.	.	.	c	1.759	-0.487212	0.04352	.	.	ENSG00000161133	ENST00000292729	.	.	.	0.406	0.406	0.16366	.	.	.	.	.	T	0.41581	0.1165	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51268	-0.8727	2	.	.	.	.	.	.	.	.	.	.	.	Y	54	.	.	C	-	2	0	USP41	19059862	0.981000	0.34729	0.080000	0.20451	0.022000	0.10575	0.072000	0.14617	0.482000	0.27582	0.280000	0.19369	TGC	USP41-201	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding			-	ENST00000454608.2	Silent	SNP	22 : 20729862 - 20729862 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	180	31
ABHD16A	7920	broad.mit.edu	37	6	31658380	31658380	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31658380C>A	ENST00000440843.2	-	8	1046		c.e8-1		XXbac-BPG32J3.20_ENST00000461287.1_Splice_Site|ABHD16A_ENST00000375842.4_Splice_Site|ABHD16A_ENST00000395952.3_Splice_Site	NM_001177515.1	NP_001170986.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	NA						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						AGCAGATCACCTAGGAAGGAG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	78	80			NA	NA	6		NA											NA				31658380		1508	2707	4215	SO:0001630	splice_region_variant			AF129756	CCDS4713.1, CCDS54988.1	6p21.3	2013-01-17	2010-12-09	2010-12-09	ENSG00000204427	ENSG00000204427	7920	7920		Abhydrolase domain containing	13921	protein-coding gene	gene with protein product		142620	HLA-B associated transcript 5	BAT5	NA	2911734, 2813433	Standard		NM_021160	NA	Approved	NG26, D6S82E	uc003nvy.2	O95870	OTTHUMG00000031177	ENST00000440843.2:c.745-1G>T	6.37:g.31658380C>A		NA	A2BEY3|Q5SRR1|Q5SRR2|Q8WYH0|Q9NW33	37	CCDS54988.1	.	.	.	.	.	.	.	.	.	.	C	9.244	1.038973	0.19669	.	.	ENSG00000204427	ENST00000395952;ENST00000375842;ENST00000440843	.	.	.	5.4	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3423	0.60551	0.1591:0.8409:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABHD16A	31766359	1.000000	0.71417	0.970000	0.41538	0.004000	0.04260	6.745000	0.74860	1.261000	0.44149	-0.169000	0.13324	.	ABHD16A-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268005.2	Intron	-	ENST00000440843.2	Splice_Site	SNP	6 : 31658380 - 31658380 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	410	72
PRR22	163154	broad.mit.edu	37	19	5784052	5784052	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5784052G>A	ENST00000419421.2	-	3	310	c.206C>T	c.(205-207)gCc>gTc	p.A69V	CTB-54O9.9_ENST00000586012.1_3'UTR	NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	67										endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						CCCGCATGGGGCCATCTGGAA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	32	30			NA	NA	19		NA											NA				5784052		2175	4276	6451	SO:0001583	missense			BC023278	CCDS45933.1	19p13.3	2012-12-20			ENSG00000212123	ENSG00000212123	163154	163154			28354	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_153359	NM_001134316	NA	Approved	MGC24975	uc010xiv.1	Q8IZ63	OTTHUMG00000180553	ENST00000419421.2:c.206C>T	19.37:g.5784052G>A	ENSP00000407653:p.Ala69Val	NA		37	CCDS45933.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113600	0.77210	.	.	ENSG00000212123	ENST00000419421	T	0.25912	1.77	4.58	4.58	0.56647	.	.	.	.	.	T	0.36608	0.0973	L	0.32530	0.975	0.33362	D	0.57249	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.46317	-0.9200	9	0.66056	D	0.02	-12.7944	8.4815	0.33045	0.1051:0.0:0.8949:0.0	.	69;67	E9PB31;Q8IZ63	.;PRR22_HUMAN	V	69	ENSP00000407653:A69V	ENSP00000407653:A69V	A	-	2	0	PRR22	5735052	1.000000	0.71417	0.949000	0.38748	0.910000	0.53928	4.060000	0.57477	2.373000	0.80994	0.491000	0.48974	GCC	PRR22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368523.1		-	ENST00000419421.2	Missense_Mutation	SNP	19 : 5784052 - 5784052 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	456	49
NUP188	23511	broad.mit.edu	37	9	131755935	131755935	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131755935G>A	ENST00000372577.2	+	27	3000	c.2979G>A	c.(2977-2979)caG>caA	p.Q993Q		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	993					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CTCTGTGGCAGGATCGGAGGG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	89	97			NA	NA	9		NA											NA				131755935		2203	4300	6503	SO:0001819	synonymous_variant			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319	23511	23511			17859	protein-coding gene	gene with protein product		615587	KIAA0169	KIAA0169	NA	11029043	Standard		NM_015354	NA	Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.2979G>A	9.37:g.131755935G>A		NA	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	37	CCDS35156.1																																																																																			NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054529.2		+	ENST00000372577.2	Silent	SNP	9 : 131755935 - 131755935 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	312	57
CPNE5	57699	broad.mit.edu	37	6	36710162	36710162	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36710162C>T	ENST00000244751.2	-	21	2289	c.1665G>A	c.(1663-1665)gtG>gtA	p.V555V	CPNE5_ENST00000459703.1_5'UTR|CPNE5_ENST00000393189.2_Silent_p.V263V	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	555										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TCATGTAGGACACCAGTTGGT	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	102	108			NA	NA	6		NA											NA				36710162		2203	4300	6503	SO:0001819	synonymous_variant			H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772	57699	57699			2318	protein-coding gene	gene with protein product		604209			NA	9430674	Standard	NM_020939	NM_020939	NA	Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.1665G>A	6.37:g.36710162C>T		NA		37	CCDS4825.1																																																																																			CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040351.1		-	ENST00000244751.2	Silent	SNP	6 : 36710162 - 36710162 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	633	23
ABLIM3	22885	broad.mit.edu	37	5	148619346	148619346	+	Missense_Mutation	SNP	C	C	T	rs150488528	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148619346C>T	ENST00000506113.1	+	12	1581	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	ABLIM3_ENST00000356541.3_Missense_Mutation_p.R305W|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R367W|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R305W|ABLIM3_ENST00000519549.1_3'UTR|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000504238.1_Missense_Mutation_p.R305W|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R367W			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	367					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGACCTCCGGCAGAGACG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	70	76	74		1099	5	1	5	dbSNP_134	74	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ABLIM3	NM_014945.2	101	0,5,6498	TT,TC,CC	NA	0.0233,0.0681,0.0384	probably-damaging	367/684	148619346	5,13001	2203	4300	6503	SO:0001583	missense			AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210	22885	22885			29132	protein-coding gene	gene with protein product		611305			NA		Standard	NM_014945	XM_005268392	NA	Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1099C>T	5.37:g.148619346C>T	ENSP00000425394:p.Arg367Trp	NA	A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	37	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889540	0.91889	6.81E-4	2.33E-4	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	5.0	5.0	0.66597	.	0.113050	0.64402	D	0.000018	T	0.58906	0.2155	L	0.43923	1.385	0.51012	D	0.999901	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.83275	0.984;0.996;0.794	T	0.60791	-0.7193	10	0.66056	D	0.02	.	18.4763	0.90793	0.0:1.0:0.0:0.0	.	305;305;367	O94929-3;O94929-2;O94929	.;.;ABLM3_HUMAN	W	305;305;367;367;305;367	ENSP00000315841:R305W;ENSP00000348938:R305W;ENSP00000310309:R367W;ENSP00000425394:R367W;ENSP00000421183:R305W;ENSP00000420855:R367W	ENSP00000310309:R367W	R	+	1	2	ABLIM3	148599539	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.471000	0.60182	2.598000	0.87819	0.462000	0.41574	CGG	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373435.1		+	ENST00000506113.1	Missense_Mutation	SNP	5 : 148619346 - 148619346 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	705	125
NYNRIN	57523	broad.mit.edu	37	14	24880593	24880593	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24880593A>C	ENST00000382554.3	+	6	2897	c.2579A>C	c.(2578-2580)aAg>aCg	p.K860T		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	860					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CACTCGCTCAAGATGCTTTCA	0.552		NA									OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													204	201	202			NA	NA	14		NA											NA				24880593		2001	4171	6172	SO:0001583	missense			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978	57523	57523			20165	protein-coding gene	gene with protein product	Cousin of GIN1		KIAA1305	KIAA1305	NA	19561090, 17114934	Standard		NM_025081	NA	Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.2579A>C	14.37:g.24880593A>C	ENSP00000371994:p.Lys860Thr	774	Q6P153|Q86TR3|Q9HAC4	37	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.150699	0.78001	.	.	ENSG00000205978	ENST00000382554	T	0.44083	0.93	5.02	-0.0439	0.13857	Ribonuclease Zc3h12a-like (1);	.	.	.	.	T	0.44603	0.1301	L	0.36672	1.1	0.25084	N	0.9909	D	0.54601	0.967	P	0.58620	0.842	T	0.33445	-0.9868	9	0.87932	D	0	.	7.177	0.25751	0.5853:0.0:0.4147:0.0	.	860	Q9P2P1	NYNRI_HUMAN	T	860	ENSP00000371994:K860T	ENSP00000371994:K860T	K	+	2	0	NYNRIN	23950433	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	3.414000	0.52693	0.069000	0.16605	0.383000	0.25322	AAG	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412939.1		+	ENST00000382554.3	Missense_Mutation	SNP	14 : 24880593 - 24880593 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1274	256
HAUS6	54801	broad.mit.edu	37	9	19089409	19089409	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:19089409C>A	ENST00000380502.3	-	5	1052		c.e5+1		HAUS6_ENST00000380496.1_Splice_Site	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	NA					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GTACTACTTACTGTGCATTTT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	87	87			NA	NA	9		NA											NA				19089409		2202	4300	6502	SO:0001630	splice_region_variant			AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874	54801	54801		HAUS augmin-like complex subunits	25948	protein-coding gene	gene with protein product		613433	family with sequence similarity 29, member A	FAM29A	NA	10997877, 19427217	Standard	NM_017645	NM_001270890	NA	Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.584+1G>T	9.37:g.19089409C>A		NA	B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	37	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.813639	0.50527	.	.	ENSG00000147874	ENST00000380502;ENST00000380496	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1537	0.81640	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HAUS6	19079409	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	4.783000	0.62403	2.406000	0.81754	0.557000	0.71058	.	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051825.1	Intron	-	ENST00000380502.3	Splice_Site	SNP	9 : 19089409 - 19089409 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	224	29
XKR6	286046	broad.mit.edu	37	8	10756176	10756176	+	Silent	SNP	G	G	A	rs139763869		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10756176G>A	ENST00000416569.2	-	3	1238	c.1212C>T	c.(1210-1212)ggC>ggT	p.G404G	XKR6_ENST00000304437.2_Silent_p.G125G	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	404						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		AGTCTGTTCCGCCATGGATGA	0.507		NA											G	2	9e-04	NA	NA	2184	0.0017	0.9995	,	,	NA	8e-04	0.0013	NA	NA	0.0012	0.8202	EXOME	NA	NA	0.0029	SNP								NA				0													94	87	89			NA	NA	8		NA											NA				10756176		2203	4300	6503	SO:0001819	synonymous_variant			BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044	286046	286046			27806	protein-coding gene	gene with protein product			chromosome 8 open reading frame 7, chromosome 8 open reading frame 21, X Kell blood group precursor-related family, member 6, chromosome 8 open reading frame 5	C8orf7, C8orf21, C8orf5	NA		Standard	NM_173683	NM_173683	NA	Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.1212C>T	8.37:g.10756176G>A		NA	Q8TBA0	37	CCDS5978.2	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	3.745	-0.052838	0.07362	.	.	ENSG00000171044	ENST00000382461	.	.	.	5.27	1.98	0.26296	.	.	.	.	.	T	0.57740	0.2074	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51787	-0.8661	4	.	.	.	-0.0538	8.8542	0.35219	0.3603:0.0:0.6397:0.0	.	.	.	.	V	181	.	.	A	-	2	0	XKR6	10793586	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	0.370000	0.20433	0.590000	0.29694	0.561000	0.74099	GCG	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383958.1		-	ENST00000416569.2	Silent	SNP	8 : 10756176 - 10756176 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	204	48
ZNF417	147687	broad.mit.edu	37	19	58421078	58421078	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58421078C>T	ENST00000312026.5	-	3	732	c.568G>A	c.(568-570)Gct>Act	p.A190T	ZNF417_ENST00000536263.1_5'UTR|ZNF417_ENST00000595559.1_Missense_Mutation_p.A189T|CTD-2583A14.9_ENST00000602124.1_Intron	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		TCTACAGCAGCTGCTTCTTGG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	144	144			NA	NA	19		NA											NA				58421078		1897	4015	5912	SO:0001583	missense			BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480	147687	147687		Zinc fingers, C2H2-type, -	20646	protein-coding gene	gene with protein product					NA		Standard	NM_152475	NM_152475	NA	Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.568G>A	19.37:g.58421078C>T	ENSP00000311319:p.Ala190Thr	NA		37	CCDS12965.1	.	.	.	.	.	.	.	.	.	.	.	7.224	0.597895	0.13939	.	.	ENSG00000173480	ENST00000312026	T	0.06068	3.35	1.86	-2.39	0.06602	.	.	.	.	.	T	0.09423	0.0232	L	0.46157	1.445	0.09310	N	0.999999	P;D	0.61080	0.84;0.989	B;P	0.54856	0.393;0.762	T	0.16897	-1.0387	9	0.56958	D	0.05	.	3.2124	0.06687	0.365:0.3849:0.0:0.2501	.	190;190	F5H0M9;Q8TAU3	.;ZN417_HUMAN	T	190	ENSP00000311319:A190T	ENSP00000311319:A190T	A	-	1	0	ZNF417	63112890	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.686000	0.05161	-0.488000	0.06726	0.298000	0.19748	GCT	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466860.1		-	ENST00000312026.5	Missense_Mutation	SNP	19 : 58421078 - 58421078 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1248	220
HECTD1	25831	broad.mit.edu	37	14	31641142	31641142	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31641142A>G	ENST00000399332.1	-	8	1745	c.1257T>C	c.(1255-1257)ggT>ggC	p.G419G	HECTD1_ENST00000553700.1_Silent_p.G419G	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	419					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TAACATCTGCACCTCTCTCAC	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	91	93			NA	NA	14		NA											NA				31641142		1829	4086	5915	SO:0001819	synonymous_variant			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148	25831	25831		Ankyrin repeat domain containing	20157	protein-coding gene	gene with protein product			HECT domain containing 1		NA	10574461	Standard		XM_005267502	NA	Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.1257T>C	14.37:g.31641142A>G		NA	Q6P445|Q86VJ1|Q96F34|Q9UFZ7	37	CCDS41939.1																																																																																			HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409942.1		-	ENST00000399332.1	Silent	SNP	14 : 31641142 - 31641142 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	252	42
SVEP1	79987	broad.mit.edu	37	9	113194818	113194818	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113194818G>T	ENST00000374469.1	-	31	5351	c.5088C>A	c.(5086-5088)ggC>ggA	p.G1696G	SVEP1_ENST00000401783.2_Silent_p.G1719G			Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1719	Sushi 6.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATAGATAGTAGCCATTGTTGC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	140	141			NA	NA	9		NA											NA				113194818		1964	4150	6114	SO:0001819	synonymous_variant			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124	79987	79987			15985	protein-coding gene	gene with protein product		611691	chromosome 9 open reading frame 13	C9orf13	NA		Standard		NM_153366	NA	Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000374469.1:c.5088C>A	9.37:g.113194818G>T		NA	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	37																																																																																				SVEP1-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000053622.1		-	ENST00000374469.1	Silent	SNP	9 : 113194818 - 113194818 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	579	101
RNF111	54778	broad.mit.edu	37	15	59344625	59344625	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59344625C>T	ENST00000348370.4	+	3	1435	c.1002C>T	c.(1000-1002)agC>agT	p.S334S	RNF111_ENST00000559209.1_Silent_p.S334S|RNF111_ENST00000434298.1_Silent_p.S334S|RNF111_ENST00000561186.1_Silent_p.S334S|RNF111_ENST00000557998.1_Silent_p.S334S	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	334	Interaction with AXIN1.|Ser-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TTGGAGAAAGCTATCGGTGAG	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(72;983 1365 10746 34387 47081)							NA				0													101	90	94			NA	NA	15		NA											NA				59344625		2192	4291	6483	SO:0001819	synonymous_variant			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450	54778	54778		RING-type (C3HC4) zinc fingers	17384	protein-coding gene	gene with protein product		605840			NA	11298452	Standard	NM_017610	NM_017610	NA	Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000348370.4:c.1002C>T	15.37:g.59344625C>T		NA	C9JUS4|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	37	CCDS10169.1																																																																																			RNF111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256017.2		+	ENST00000348370.4	Silent	SNP	15 : 59344625 - 59344625 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	81
COLGALT1	79709	broad.mit.edu	37	19	17692040	17692040	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17692040G>A	ENST00000252599.4	+	12	1776	c.1656G>A	c.(1654-1656)gaG>gaA	p.E552E		NM_024656.2	NP_078932.2			collagen beta(1-O)galactosyltransferase 1	NA											NA						TCTCTGTGGAGCCGCTGCTCA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													219	192	202			NA	NA	19		NA											NA				17692040		2203	4300	6503	SO:0001819	synonymous_variant			AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309	79709	79709			26182	protein-coding gene	gene with protein product			glycosyltransferase 25 domain containing 1	GLT25D1	NA	19075007	Standard	NM_024656	NM_024656	NA	Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.1656G>A	19.37:g.17692040G>A		NA		37	CCDS12363.1																																																																																			COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464216.1		+	ENST00000252599.4	Silent	SNP	19 : 17692040 - 17692040 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1461	285
AK1	203	broad.mit.edu	37	9	130635041	130635041	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130635041G>A	ENST00000373176.1	-	4	287	c.135C>T	c.(133-135)tcC>tcT	p.S45S	RP11-203J24.9_ENST00000476274.2_RNA|AK1_ENST00000373156.1_Silent_p.S45S|AK1_ENST00000223836.10_Silent_p.S61S	NM_000476.2	NP_000467.1	P00568	KAD1_HUMAN	adenylate kinase 1	45					ATP metabolic process|nucleobase, nucleoside and nucleotide interconversion	cytosol	adenylate kinase activity|ATP binding|protein binding			endometrium(1)|prostate(1)	2						AGCTGACCTCGGACCGCAGGA	0.637		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	60	63		135	-6.5	0.9	9		63	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	AK1	NM_000476.2		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		45/195	130635041	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			J04809	CCDS6881.1	9q34.1	2008-02-05			ENSG00000106992	ENSG00000106992	203	203	2.7.4.3	Adenylate kinases	361	protein-coding gene	gene with protein product		103000			NA		Standard		NM_000476	NA	Approved		uc004bsm.4	P00568	OTTHUMG00000020722	ENST00000373176.1:c.135C>T	9.37:g.130635041G>A		NA	Q9BVK9|Q9UQC7	37	CCDS6881.1																																																																																			AK1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054307.1		-	ENST00000373176.1	Silent	SNP	9 : 130635041 - 130635041 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	48
CADM3	57863	broad.mit.edu	37	1	159170620	159170620	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159170620G>T	ENST00000368125.4	+	9	1262	c.1105G>T	c.(1105-1107)Ggc>Tgc	p.G369C	CADM3_ENST00000497636.1_3'UTR|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Missense_Mutation_p.G403C	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	369					adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TGAGGCAAAAGGCTCCGACGA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	87	90			NA	NA	1		NA											NA				159170620		2203	4300	6503	SO:0001583	missense			AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706	57863	57863		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	17601	protein-coding gene	gene with protein product	nectin-like 1	609743	immunoglobulin superfamily, member 4B	IGSF4B	NA	11536053	Standard	NM_021189	NM_021189	NA	Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.1105G>T	1.37:g.159170620G>T	ENSP00000357107:p.Gly369Cys	NA	Q8IZQ9|Q9NVJ5|Q9UJP1	37	CCDS44251.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607985	0.66558	.	.	ENSG00000162706	ENST00000368124;ENST00000368125	T;T	0.65549	-0.16;-0.02	3.81	3.81	0.43845	Neurexin/syndecan/glycophorin C (1);	0.000000	0.64402	D	0.000001	T	0.78811	0.4342	M	0.91510	3.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84007	0.0346	10	0.87932	D	0	.	13.2211	0.59887	0.0:0.0:1.0:0.0	.	369;403	Q8N126;Q8N126-2	CADM3_HUMAN;.	C	403;369	ENSP00000357106:G403C;ENSP00000357107:G369C	ENSP00000357106:G403C	G	+	1	0	CADM3	157437244	1.000000	0.71417	0.992000	0.48379	0.656000	0.38851	8.966000	0.93397	1.965000	0.57142	0.591000	0.81541	GGC	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090330.1		+	ENST00000368125.4	Missense_Mutation	SNP	1 : 159170620 - 159170620 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	551	108
PIGG	54872	broad.mit.edu	37	4	527709	527709	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:527709T>C	ENST00000453061.2	+	12	2780	c.2674T>C	c.(2674-2676)Tac>Cac	p.Y892H	PIGG_ENST00000504346.1_Missense_Mutation_p.Y803H|PIGG_ENST00000310340.5_Missense_Mutation_p.Y884H|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.Y759H	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	892					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						GTTTGGGACGTACGCAGGGCC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	78	82			NA	NA	4		NA											NA				527709		2203	4300	6503	SO:0001583	missense				CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227	54872	54872		Phosphatidylinositol glycan anchor biosynthesis	25985	protein-coding gene	gene with protein product			phosphatidylinositol glycan, class G		NA	15632136	Standard	NM_017733	XM_005272287	NA	Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.2674T>C	4.37:g.527709T>C	ENSP00000415203:p.Tyr892His	NA	Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	37	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.552486	0.86127	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028;ENST00000453065	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.78	5.78	0.91487	.	0.119076	0.64402	D	0.000016	T	0.58623	0.2135	M	0.82630	2.6	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.74674	0.945;0.963;0.984	T	0.64516	-0.6389	10	0.87932	D	0	-10.8366	14.3442	0.66649	0.0:0.0:0.0:1.0	.	759;892;884	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	H	884;892;803;759;48	ENSP00000311750:Y884H;ENSP00000415203:Y892H;ENSP00000424800:Y803H;ENSP00000372494:Y759H	ENSP00000311750:Y884H	Y	+	1	0	PIGG	517709	1.000000	0.71417	0.012000	0.15200	0.844000	0.47949	7.431000	0.80335	2.333000	0.79357	0.533000	0.62120	TAC	PIGG-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357494.1		+	ENST00000453061.2	Missense_Mutation	SNP	4 : 527709 - 527709 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	378	60
BZRAP1	9256	broad.mit.edu	37	17	56386380	56386380	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56386380C>T	ENST00000268893.6	-	21	4912	c.4073G>A	c.(4072-4074)cGc>cAc	p.R1358H	BZRAP1_ENST00000343736.4_Missense_Mutation_p.R1418H|BZRAP1_ENST00000355701.3_Missense_Mutation_p.R1418H	NM_024418.2	NP_077729.1	O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1418						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGCCGCCTGCGGCTTGGGGG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	61	58			NA	NA	17		NA											NA				56386380		2061	4106	6167	SO:0001583	missense			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09				9256	9256			16831	protein-coding gene	gene with protein product		610764			NA	9734811, 9915832	Standard	NM_004758	NM_004758	NA	Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000268893.6:c.4073G>A	17.37:g.56386380C>T	ENSP00000268893:p.Arg1358His	NA	O75111|Q8N5W3	37	CCDS45742.1	.	.	.	.	.	.	.	.	.	.	c	11.12	1.545017	0.27652	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.04809	3.55;3.55;3.56	5.31	3.32	0.38043	.	0.745690	0.13368	N	0.393144	T	0.04998	0.0134	L	0.32530	0.975	0.25701	N	0.98559	B;B;B	0.21821	0.042;0.061;0.036	B;B;B	0.16722	0.011;0.016;0.007	T	0.33394	-0.9870	10	0.87932	D	0	.	9.0355	0.36284	0.0:0.775:0.1461:0.0789	.	1418;1358;1418	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	H	1418;1418;1358	ENSP00000347929:R1418H;ENSP00000345824:R1418H;ENSP00000268893:R1358H	ENSP00000268893:R1358H	R	-	2	0	BZRAP1	53741379	0.997000	0.39634	0.935000	0.37517	0.512000	0.34134	1.834000	0.39171	0.637000	0.30526	-0.215000	0.12644	CGC	BZRAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443978.1		-	ENST00000268893.6	Missense_Mutation	SNP	17 : 56386380 - 56386380 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1106	219
CARD8	22900	broad.mit.edu	37	19	48725090	48725090	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48725090C>T	ENST00000520753.1	-	11	1403	c.1058G>A	c.(1057-1059)cGc>cAc	p.R353H	CARD8_ENST00000357778.5_Missense_Mutation_p.R78H|CARD8_ENST00000520153.1_Missense_Mutation_p.R303H|CARD8_ENST00000521613.1_Missense_Mutation_p.R303H|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000447740.2_Missense_Mutation_p.R303H|CARD8_ENST00000391898.3_Missense_Mutation_p.R353H|CARD8_ENST00000520015.1_Missense_Mutation_p.R353H|CARD8_ENST00000359009.4_Missense_Mutation_p.R247H|CARD8_ENST00000519940.1_Missense_Mutation_p.R353H	NM_001184902.1	NP_001171831.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	247	CARD.				negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		ACCATGGAAGCGATCTTCCTC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	63	64			NA	NA	19		NA											NA				48725090		2203	4300	6503	SO:0001583	missense			AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483	22900	22900			17057	protein-coding gene	gene with protein product		609051			NA	10231032, 11408476	Standard	NM_014959	NM_001184900	NA	Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000520753.1:c.1058G>A	19.37:g.48725090C>T	ENSP00000429839:p.Arg353His	NA	B7Z496|Q6PGP8|Q96P82	37	CCDS54288.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243606	0.39697	.	.	ENSG00000105483	ENST00000357778;ENST00000447740;ENST00000391898;ENST00000359009;ENST00000520753;ENST00000520153;ENST00000520015;ENST00000521613;ENST00000519940	T;T;T;T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18	2.3	-4.61	0.03380	.	.	.	.	.	T	0.25865	0.0630	L	0.36672	1.1	0.09310	N	1	D;D;D;D;D;D;D	0.76494	0.998;0.999;0.999;0.999;0.998;0.998;0.998	P;D;D;P;P;P;P	0.64144	0.864;0.922;0.922;0.872;0.786;0.786;0.783	T	0.15752	-1.0426	9	0.66056	D	0.02	.	5.7338	0.18055	0.0:0.2121:0.1655:0.6223	.	272;353;353;353;303;247;247	B5KVR7;E9PEM7;B5KVR6;Q9Y2G2-3;G3XAM9;Q9Y2G2-2;Q9Y2G2	.;.;.;.;.;.;CARD8_HUMAN	H	78;303;353;247;353;303;353;303;353	ENSP00000350423:R78H;ENSP00000391248:R303H;ENSP00000375767:R353H;ENSP00000351901:R247H;ENSP00000429839:R353H;ENSP00000428736:R303H;ENSP00000430747:R353H;ENSP00000427858:R303H;ENSP00000428883:R353H	ENSP00000350423:R78H	R	-	2	0	CARD8	53416902	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.582000	0.05814	-1.532000	0.01747	-0.218000	0.12543	CGC	CARD8-002	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381554.1		-	ENST00000520753.1	Missense_Mutation	SNP	19 : 48725090 - 48725090 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	301	15
SPTB	6710	broad.mit.edu	37	14	65253542	65253542	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65253542C>T	ENST00000556626.1	-	16	3283	c.3141G>A	c.(3139-3141)caG>caA	p.Q1047Q	SPTB_ENST00000389721.5_Silent_p.Q1047Q|SPTB_ENST00000389722.3_Silent_p.Q1047Q|SPTB_ENST00000542895.1_Silent_p.Q1047Q|SPTB_ENST00000389720.3_Silent_p.Q1047Q			P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1047					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCAGGGATTGCTGCAGGCCCT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	58	56			NA	NA	14		NA											NA				65253542		2203	4300	6503	SO:0001819	synonymous_variant				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182	6710	6710		Pleckstrin homology (PH) domain containing	11274	protein-coding gene	gene with protein product	spherocytosis, clinical type I	182870			NA	2209094	Standard		NM_001024858	NA	Approved		uc001xhr.3	P11277		ENST00000556626.1:c.3141G>A	14.37:g.65253542C>T		NA	Q15510|Q15519	37	CCDS32099.1																																																																																			SPTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414076.1		-	ENST00000556626.1	Silent	SNP	14 : 65253542 - 65253542 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	451	14
NKAIN3	286183	broad.mit.edu	37	8	63659620	63659620	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:63659620G>A	ENST00000523211.1	+	4	535	c.403G>A	c.(403-405)Gtc>Atc	p.V135I	NKAIN3_ENST00000328472.5_Missense_Mutation_p.V135I|NKAIN3_ENST00000519049.1_3'UTR	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	135						integral to membrane|plasma membrane				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				GTACGTCTCTGTCACAGGCTG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	125	125			NA	NA	8		NA											NA				63659620		2082	4217	6299	SO:0001583	missense			AK096949	CCDS55239.1	8q12.3	2014-08-12	2007-10-04	2007-10-04	ENSG00000185942	ENSG00000185942	286183	286183		Na+/K+ transporting ATPase interacting	26829	protein-coding gene	gene with protein product		612872	family with sequence similarity 77, member D	FAM77D	NA	17606467	Standard	NM_173688	NM_173688	NA	Approved	FLJ39630	uc010lyq.1	Q8N8D7	OTTHUMG00000164361	ENST00000523211.1:c.403G>A	8.37:g.63659620G>A	ENSP00000429073:p.Val135Ile	NA		37	CCDS55239.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.309719	0.60414	.	.	ENSG00000185942	ENST00000545532;ENST00000523211;ENST00000328472	T;T	0.15256	2.44;2.44	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000002	T	0.20618	0.0496	L	0.55103	1.725	0.44395	D	0.997307	P	0.39443	0.674	B	0.36418	0.224	T	0.01390	-1.1367	10	0.46703	T	0.11	-20.8503	18.3654	0.90389	0.0:0.0:1.0:0.0	.	135	Q8N8D7	NKAI3_HUMAN	I	135	ENSP00000429073:V135I;ENSP00000333627:V135I	ENSP00000333627:V135I	V	+	1	0	NKAIN3	63822174	1.000000	0.71417	0.954000	0.39281	0.744000	0.42396	6.307000	0.72815	2.583000	0.87209	0.650000	0.86243	GTC	NKAIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378447.2		+	ENST00000523211.1	Missense_Mutation	SNP	8 : 63659620 - 63659620 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	171	26
ZNF749	388567	broad.mit.edu	37	19	57955243	57955243	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57955243C>T	ENST00000334181.4	+	3	977	c.727C>T	c.(727-729)Cag>Tag	p.Q243*	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	243			Q -> R (in dbSNP:rs12986235).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TATTAAATATCAGCAAAATCA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	56	56			NA	NA	19		NA											NA				57955243		2203	4300	6503	SO:0001587	stop_gained			AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230	388567	388567		Zinc fingers, C2H2-type, -	32783	protein-coding gene	gene with protein product					NA		Standard	NM_001023561	NM_001023561	NA	Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.727C>T	19.37:g.57955243C>T	ENSP00000333980:p.Gln243*	NA		37	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005683	0.74932	.	.	ENSG00000186230	ENST00000334181	.	.	.	2.27	2.27	0.28462	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	6.1978	0.20559	0.2992:0.7008:0.0:0.0	.	.	.	.	X	243	.	ENSP00000333980:Q243X	Q	+	1	0	ZNF749	62647055	0.000000	0.05858	0.012000	0.15200	0.330000	0.28571	-0.190000	0.09615	1.243000	0.43853	0.305000	0.20034	CAG	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317879.1		+	ENST00000334181.4	Nonsense_Mutation	SNP	19 : 57955243 - 57955243 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	295	56
TRIP11	9321	broad.mit.edu	37	14	92470112	92470112	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92470112T>C	ENST00000267622.4	-	11	4581	c.4208A>G	c.(4207-4209)gAt>gGt	p.D1403G		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1403					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTGCAAAACATCTTGTTTCTC	0.353		NA	T	PDGFRB	AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(84;609 1888 9852 42686)		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													106	103	104			NA	NA	14		NA											NA				92470112		2203	4300	6503	SO:0001583	missense			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815	9321	9321			12305	protein-coding gene	gene with protein product		604505			NA	7776974, 9373237	Standard		NM_004239	NA	Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.4208A>G	14.37:g.92470112T>C	ENSP00000267622:p.Asp1403Gly	NA	O14689|O15154|O95949	37	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	T	15.85	2.955509	0.53293	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.05580	3.42	5.36	4.21	0.49690	.	0.442134	0.25135	N	0.032875	T	0.10294	0.0252	L	0.47716	1.5	0.39889	D	0.973749	B;P	0.48503	0.015;0.911	B;P	0.47705	0.015;0.555	T	0.04255	-1.0965	10	0.59425	D	0.04	.	10.9328	0.47228	0.0:0.0738:0.0:0.9262	.	1139;1403	F5H1Z0;Q15643	.;TRIPB_HUMAN	G	1403;1139	ENSP00000267622:D1403G	ENSP00000267622:D1403G	D	-	2	0	TRIP11	91539865	1.000000	0.71417	0.007000	0.13788	0.455000	0.32408	4.849000	0.62882	0.875000	0.35847	0.379000	0.24179	GAT	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411823.1		-	ENST00000267622.4	Missense_Mutation	SNP	14 : 92470112 - 92470112 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	477	89
NEK11	79858	broad.mit.edu	37	3	130992362	130992362	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130992362A>C	ENST00000510769.1	+	13	1600	c.1347A>C	c.(1345-1347)ccA>ccC	p.P449P	NEK11_ENST00000429253.2_Silent_p.P554P|NEK11_ENST00000412440.2_Silent_p.P370P|NEK11_ENST00000383366.4_Silent_p.P554P|NEK11_ENST00000510688.1_Intron|NEK11_ENST00000508196.1_Silent_p.P554P			Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	554					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						ACATGTCCCCAGGACCACCAA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	117	130			NA	NA	3		NA											NA				130992362		2203	4300	6503	SO:0001819	synonymous_variant			AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670	79858	79858			18593	protein-coding gene	gene with protein product		609779	NIMA (never in mitosis gene a)- related kinase 11		NA		Standard	NM_024800	NM_024800	NA	Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.1347A>C	3.37:g.130992362A>C		NA	A6NHD7|Q5JPC0|Q8NG65|Q8TBY1|Q9H5F4	37																																																																																				NEK11-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000356757.1		+	ENST00000510769.1	Silent	SNP	3 : 130992362 - 130992362 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	287	45
SOX11	6664	broad.mit.edu	37	2	5832882	5832882	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:5832882C>T	ENST00000322002.3	+	1	84	c.29C>T	c.(28-30)gCg>gTg	p.A10V		NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	10					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		AGCTTGGAAGCGGAGAGCAAC	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	23	23			NA	NA	2		NA											NA				5832882		2202	4299	6501	SO:0001583	missense				CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887	6664	6664		SRY (sex determining region Y)-boxes	11191	protein-coding gene	gene with protein product	SRY-related HMG-box gene 11	600898			NA	8666406, 12637543	Standard	NM_003108	NM_003108	NA	Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.29C>T	2.37:g.5832882C>T	ENSP00000322568:p.Ala10Val	NA	Q4ZFV8	37	CCDS1654.1	.	.	.	.	.	.	.	.	.	.	c	15.48	2.845208	0.51164	.	.	ENSG00000176887	ENST00000322002	D	0.97831	-4.56	3.18	2.15	0.27550	.	0.438607	0.17017	U	0.190244	D	0.90038	0.6889	N	0.08118	0	0.24184	N	0.995577	P	0.35155	0.487	B	0.24155	0.051	D	0.85314	0.1080	10	0.37606	T	0.19	.	6.8925	0.24236	0.0:0.629:0.2562:0.1147	.	10	P35716	SOX11_HUMAN	V	10	ENSP00000322568:A10V	ENSP00000322568:A10V	A	+	2	0	SOX11	5750333	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.976000	0.40579	1.455000	0.47813	0.472000	0.43445	GCG	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206698.1		+	ENST00000322002.3	Missense_Mutation	SNP	2 : 5832882 - 5832882 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	153	20
EPHA2	1969	broad.mit.edu	37	1	16475444	16475444	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16475444G>T	ENST00000358432.5	-	3	406	c.252C>A	c.(250-252)aaC>aaA	p.N84K	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	84					activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GGTACACCCAGTTGGTGCGGA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	96	102			NA	NA	1		NA											NA				16475444		2203	4300	6503	SO:0001583	missense			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	1969	1969	2.7.10.1	EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3386	protein-coding gene	gene with protein product		176946	EphA2	ECK	NA	9119409	Standard	NM_004431	NM_004431	NA	Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.252C>A	1.37:g.16475444G>T	ENSP00000351209:p.Asn84Lys	NA	Q8N3Z2	37	CCDS169.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787196	0.70337	.	.	ENSG00000142627	ENST00000358432	T	0.03524	3.9	5.35	5.35	0.76521	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000008	T	0.10723	0.0262	L	0.51422	1.61	0.50632	D	0.999885	D;D	0.76494	0.999;0.984	D;P	0.69479	0.964;0.698	T	0.14783	-1.0460	10	0.26408	T	0.33	.	10.0664	0.42306	0.0918:0.0:0.9082:0.0	.	84;84	B5A968;P29317	.;EPHA2_HUMAN	K	84	ENSP00000351209:N84K	ENSP00000351209:N84K	N	-	3	2	EPHA2	16348031	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.382000	0.52463	2.503000	0.84419	0.561000	0.74099	AAC	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026322.1		-	ENST00000358432.5	Missense_Mutation	SNP	1 : 16475444 - 16475444 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	412	38
OR51T1	401665	broad.mit.edu	37	11	4903783	4903783	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4903783C>A	ENST00000322049.1	+	1	654	c.654C>A	c.(652-654)ttC>ttA	p.F218L	MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000380378.1_Missense_Mutation_p.F245L|MMP26_ENST00000477339.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTATTCTTTTCTCCTATGTCC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	88	91			NA	NA	11		NA											NA				4903783		2201	4298	6499	SO:0001583	missense			BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900	401665	401665		GPCR / Class A : Olfactory receptors	15205	protein-coding gene	gene with protein product					NA		Standard	NM_001004759	NM_001004759	NA	Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.654C>A	11.37:g.4903783C>A	ENSP00000322679:p.Phe218Leu	NA	Q6IFH9	37		.	.	.	.	.	.	.	.	.	.	C	2.468	-0.322523	0.05350	.	.	ENSG00000176900	ENST00000380378;ENST00000322049	T;T	0.37584	1.19;1.19	4.99	2.06	0.26882	GPCR, rhodopsin-like superfamily (1);	0.671673	0.13049	N	0.417881	T	0.10508	0.0257	N	0.02111	-0.68	0.33486	D	0.588027	B	0.09022	0.002	B	0.10450	0.005	T	0.38023	-0.9680	10	0.02654	T	1	.	4.0786	0.09916	0.2879:0.4944:0.1396:0.0781	.	218	Q8NGJ9	O51T1_HUMAN	L	245;218	ENSP00000369738:F245L;ENSP00000322679:F218L	ENSP00000322679:F218L	F	+	3	2	OR51T1	4860359	0.003000	0.15002	1.000000	0.80357	0.951000	0.60555	-0.511000	0.06321	0.273000	0.22049	0.484000	0.47621	TTC	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000142180.1		+	ENST00000322049.1	Missense_Mutation	SNP	11 : 4903783 - 4903783 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	370	61
SENP8	123228	broad.mit.edu	37	15	72432577	72432577	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72432577C>A	ENST00000542035.2	+	2	946	c.613C>A	c.(613-615)Ctc>Atc	p.L205I	SENP8_ENST00000544411.1_Missense_Mutation_p.L205I|SENP8_ENST00000340912.4_Missense_Mutation_p.L205I|SENP8_ENST00000544171.1_Missense_Mutation_p.L205I	NM_001166340.1	NP_001159812.1	Q96LD8	SENP8_HUMAN	SUMO/sentrin specific peptidase family member 8	205					proteolysis		cysteine-type peptidase activity|protein binding			breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						ATGGAAAGATCTCATTACCAC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	59	61			NA	NA	15		NA											NA				72432577		2199	4297	6496	SO:0001583	missense			BC031411	CCDS10240.1	15q22.33	2005-08-17	2005-08-17	2004-01-30	ENSG00000166192	ENSG00000166192	123228	123228			22992	protein-coding gene	gene with protein product	NEDD8-specific protease 1, sentrin/SUMO-specific protease SENP8, deneddylase 1	608659	protease, cysteine, 2 (NEDD8 specific), SUMO/sentrin specific protease family member 8	PRSC2	NA	12730221, 12759362	Standard	NM_145204	NM_145204	NA	Approved	NEDP1, DEN1, HsT17512	uc021spt.1	Q96LD8	OTTHUMG00000133441	ENST00000542035.2:c.613C>A	15.37:g.72432577C>A	ENSP00000446057:p.Leu205Ile	NA	Q96QA4	37	CCDS10240.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056735	0.36277	.	.	ENSG00000166192	ENST00000542035;ENST00000544411;ENST00000340912;ENST00000544171	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.76	4.84	0.62591	.	0.069030	0.64402	D	0.000014	T	0.48786	0.1519	L	0.48877	1.53	0.80722	D	1	B	0.28026	0.198	B	0.41917	0.37	T	0.34428	-0.9829	10	0.20519	T	0.43	-13.4616	13.5248	0.61589	0.0:0.9264:0.0:0.0736	.	205	Q96LD8	SENP8_HUMAN	I	205	ENSP00000446057:L205I;ENSP00000441753:L205I;ENSP00000340505:L205I;ENSP00000439415:L205I	ENSP00000340505:L205I	L	+	1	0	SENP8	70219631	1.000000	0.71417	1.000000	0.80357	0.155000	0.21991	3.575000	0.53870	2.730000	0.93505	0.591000	0.81541	CTC	SENP8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000420036.1		+	ENST00000542035.2	Missense_Mutation	SNP	15 : 72432577 - 72432577 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	271	32
MKNK2	2872	broad.mit.edu	37	19	2043157	2043157	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2043157G>A	ENST00000591601.1	-	6	494	c.459C>T	c.(457-459)gaC>gaT	p.D153D	MKNK2_ENST00000250896.3_Silent_p.D153D|MKNK2_ENST00000309340.7_Silent_p.D153D|MKNK2_ENST00000541165.1_Silent_p.D22D			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	153	Protein kinase.				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTAGAAGCGGTCCTCCTCCT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	144	145			NA	NA	19		NA											NA				2043157		2203	4300	6503	SO:0001819	synonymous_variant			AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875	2872	2872			7111	protein-coding gene	gene with protein product	Putative map kinase interacting kinase	605069	G protein-coupled receptor kinase 7	GPRK7	NA	11013076	Standard	NM_199054	NM_199054	NA	Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.459C>T	19.37:g.2043157G>A		NA	Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	37	CCDS12080.1																																																																																			MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449312.1		-	ENST00000591601.1	Silent	SNP	19 : 2043157 - 2043157 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1267	231
MAPK8IP3	23162	broad.mit.edu	37	16	1756509	1756509	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1756509C>T	ENST00000250894.4	+	1	326	c.169C>T	c.(169-171)Ccg>Tcg	p.P57S	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.P57S	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	57					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GGAGCTCATGCCGCTGGTGGT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	66	67			NA	NA	16		NA											NA				1756509		2199	4300	6499	SO:0001583	missense			AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834	23162	23162			6884	protein-coding gene	gene with protein product	homolog of Drosophila Sunday driver 2	605431			NA	10523642, 10629060	Standard	NM_001040439	XM_005255187	NA	Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.169C>T	16.37:g.1756509C>T	ENSP00000250894:p.Pro57Ser	NA	A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	37	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319823	0.81469	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.73152	-0.72;-0.72	3.52	3.52	0.40303	JNK/Rab-associated protein-1, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85660	0.5748	M	0.88105	2.93	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.996	D;D;D;D	0.97110	1.0;1.0;1.0;0.991	D	0.89170	0.3536	10	0.87932	D	0	-23.6301	14.8211	0.70074	0.0:1.0:0.0:0.0	.	57;57;57;57	B7ZMF3;E9PFH7;Q9UPT6;Q9UPT6-2	.;.;JIP3_HUMAN;.	S	57	ENSP00000250894:P57S;ENSP00000348290:P57S	ENSP00000250894:P57S	P	+	1	0	MAPK8IP3	1696510	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.319000	0.79040	1.790000	0.52503	0.185000	0.17295	CCG	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250508.2		+	ENST00000250894.4	Missense_Mutation	SNP	16 : 1756509 - 1756509 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	218	48
REPIN1	29803	broad.mit.edu	37	7	150069954	150069954	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150069954G>A	ENST00000425389.2	+	1	1702	c.1624G>A	c.(1624-1626)Gcc>Acc	p.A542T	REPIN1_ENST00000489432.2_Missense_Mutation_p.A599T|REPIN1_ENST00000397281.2_Missense_Mutation_p.A542T|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000444957.1_Missense_Mutation_p.A542T|REPIN1_ENST00000540729.1_Missense_Mutation_p.A542T	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	542					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCGGGACGGCGCCTTCTGCTG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	44	42			NA	NA	7		NA											NA				150069954		2187	4292	6479	SO:0001583	missense			AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08			29803	29803		Zinc fingers, C2H2-type	17922	protein-coding gene	gene with protein product	replication initiation region protein (60kD), zinc finger protein AP4, zinc finger protein 464 (RIP60)		zinc finger protein 464 (RIP60)	ZNF464	NA	10606657	Standard	NM_014374	NM_013400	NA	Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.1624G>A	7.37:g.150069954G>A	ENSP00000388287:p.Ala542Thr	NA	D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	37	CCDS43677.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.373731	0.42105	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000425389	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	4.17	3.24	0.37175	Zinc finger, C2H2 (1);	.	.	.	.	T	0.18509	0.0444	N	0.13352	0.335	0.80722	D	1	B;B	0.22146	0.03;0.065	B;B	0.04013	0.001;0.001	T	0.10109	-1.0644	9	0.87932	D	0	-14.6073	11.6665	0.51376	0.0:0.1955:0.8045:0.0	.	599;542	C9J3L7;Q9BWE0	.;REPI1_HUMAN	T	542;542;542;599;542	ENSP00000445016:A542T;ENSP00000380451:A542T;ENSP00000407714:A542T;ENSP00000417291:A599T;ENSP00000388287:A542T	ENSP00000380451:A542T	A	+	1	0	REPIN1	149700887	0.001000	0.12720	1.000000	0.80357	0.991000	0.79684	0.903000	0.28475	2.171000	0.68590	0.563000	0.77884	GCC	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376940.1		+	ENST00000425389.2	Missense_Mutation	SNP	7 : 150069954 - 150069954 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	284	50
CACNA1E	777	broad.mit.edu	37	1	181693609	181693609	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181693609C>T	ENST00000526775.1	+	17	2243	c.2078C>T	c.(2077-2079)aCg>aTg	p.T693M	CACNA1E_ENST00000367573.2_Missense_Mutation_p.T693M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.T644M|CACNA1E_ENST00000367567.4_Missense_Mutation_p.T300M|CACNA1E_ENST00000367570.1_Missense_Mutation_p.T693M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T693M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T644M	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	693					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACCCCAGACACGCTACTGAAT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	MET/THR,MET/THR,MET/THR	0,3944		0,0,1972	135	124	128		2078,2078,2078	4.9	0.9	1		128	1,8313		0,1,4156	no	missense,missense,missense	CACNA1E	NM_000721.3,NM_001205293.1,NM_001205294.1	81,81,81	0,1,6128	TT,TC,CC	NA	0.012,0.0,0.0082	possibly-damaging,possibly-damaging,possibly-damaging	693/2271,693/2314,693/2252	181693609	1,12257	1972	4157	6129	SO:0001583	missense			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216	777	777		Calcium channel subunits, Voltage-gated ion channels / Calcium channels, EF-hand domain containing	1392	protein-coding gene	gene with protein product		601013		CACNL1A6	NA	8388125, 16382099	Standard	NM_000721	NM_001205293	NA	Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000526775.1:c.2078C>T	1.37:g.181693609C>T	ENSP00000434814:p.Thr693Met	NA	B1AM12|B1AM13|B1AM14|Q14580|Q14581	37	CCDS55665.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670172	0.67814	0.0	1.2E-4	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98419	-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.98140	0.9386	L	0.56280	1.765	0.58432	D	0.999997	D;D	0.67145	0.996;0.996	P;P	0.57371	0.819;0.819	D	0.99047	1.0826	10	0.62326	D	0.03	.	17.9496	0.89048	0.0:1.0:0.0:0.0	.	693;693	Q15878-2;Q15878-3	.;.	M	693;693;644;644;300;693;693	ENSP00000356542:T693M;ENSP00000434814:T693M;ENSP00000350183:T644M;ENSP00000351101:T644M;ENSP00000356539:T300M;ENSP00000353222:T693M;ENSP00000356545:T693M	ENSP00000350183:T644M	T	+	2	0	CACNA1E	179960232	1.000000	0.71417	0.878000	0.34440	0.861000	0.49209	5.945000	0.70226	2.390000	0.81377	0.462000	0.41574	ACG	CACNA1E-002	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090792.2		+	ENST00000526775.1	Missense_Mutation	SNP	1 : 181693609 - 181693609 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	124	28
ACTL7A	10881	broad.mit.edu	37	9	111625138	111625138	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111625138A>C	ENST00000333999.3	+	1	536	c.536A>C	c.(535-537)aAc>aCc	p.N179T		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	179						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCACACACCAACAGAGAGAAA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(177;1480 3591 17554)							NA				0													111	109	110			NA	NA	9		NA											NA				111625138		2203	4300	6503	SO:0001583	missense			BC014610	CCDS6772.1	9q31	2008-02-05			ENSG00000187003	ENSG00000187003	10881	10881			161	protein-coding gene	gene with protein product		604303			NA	10373328	Standard	NM_006687	NM_006687	NA	Approved		uc004bdj.1	Q9Y615	OTTHUMG00000020461	ENST00000333999.3:c.536A>C	9.37:g.111625138A>C	ENSP00000334300:p.Asn179Thr	NA	B2RC83|Q5JSV0	37	CCDS6772.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.301479	0.81136	.	.	ENSG00000187003	ENST00000333999	D	0.97378	-4.36	5.98	5.98	0.97165	.	0.000000	0.50627	D	0.000102	D	0.98520	0.9506	M	0.87038	2.855	0.54753	D	0.999986	D	0.89917	1.0	D	0.83275	0.996	D	0.99548	1.0965	10	0.87932	D	0	.	14.4302	0.67243	1.0:0.0:0.0:0.0	.	179	Q9Y615	ACL7A_HUMAN	T	179	ENSP00000334300:N179T	ENSP00000334300:N179T	N	+	2	0	ACTL7A	110664959	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.313000	0.96297	2.288000	0.76882	0.528000	0.53228	AAC	ACTL7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053570.1		+	ENST00000333999.3	Missense_Mutation	SNP	9 : 111625138 - 111625138 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	535	95
GRM7	2917	broad.mit.edu	37	3	6903438	6903438	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:6903438T>G	ENST00000486284.1	+	1	637	c.363T>G	c.(361-363)acT>acG	p.T121T	GRM7_ENST00000402647.2_Silent_p.T121T|GRM7_ENST00000403881.1_Silent_p.T121T|GRM7_ENST00000357716.4_Silent_p.T121T|GRM7_ENST00000389336.4_Silent_p.T121T	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	121					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AGTCGCTTACTTTCGTCCAGG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	66	68			NA	NA	3		NA											NA				6903438		2203	4300	6503	SO:0001819	synonymous_variant			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277	2917	2917		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4599	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 87	604101			NA	8288585, 8840028	Standard	NM_000844	NM_000844	NA	Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000486284.1:c.363T>G	3.37:g.6903438T>G		NA	Q8NFS2|Q8NFS3|Q8NFS4	37																																																																																				GRM7-015	PUTATIVE	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000354360.1		+	ENST00000486284.1	Silent	SNP	3 : 6903438 - 6903438 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	335	68
GCM1	8521	broad.mit.edu	37	6	52995599	52995599	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52995599A>G	ENST00000259803.7	-	5	782		c.e5+1			NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	NA						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					ATGAAGGATTACCCTGGTCTC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													275	225	242			NA	NA	6		NA											NA				52995599		2203	4300	6503	SO:0001630	splice_region_variant			D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270	8521	8521			4197	protein-coding gene	gene with protein product		603715	glial cells missing (Drosophila) homolog a	GCMA	NA	8962155	Standard		NM_003643	NA	Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.570+1T>C	6.37:g.52995599A>G		NA	Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	37	CCDS4950.1	.	.	.	.	.	.	.	.	.	.	A	12.35	1.912420	0.33721	.	.	ENSG00000137270	ENST00000259803	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1342	0.81471	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GCM1	53103558	1.000000	0.71417	0.979000	0.43373	0.016000	0.09150	3.656000	0.54467	2.209000	0.71365	0.533000	0.62120	.	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040953.1	Intron	-	ENST00000259803.7	Splice_Site	SNP	6 : 52995599 - 52995599 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	401	72
RECQL	5965	broad.mit.edu	37	12	21624421	21624421	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21624421T>C	ENST00000444129.2	-	13	2076	c.1608A>G	c.(1606-1608)acA>acG	p.T536T	RECQL_ENST00000421138.2_Silent_p.T536T	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	536					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						CACGAGGAAGTGTGGGAGCCA	0.398		NA						Other identified genes with known or suspected DNA repair function						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	111	115			NA	NA	12		NA											NA				21624421		2203	4300	6503	SO:0001819	synonymous_variant			D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700	5965	5965			9948	protein-coding gene	gene with protein product	DNA helicase Q1-like	600537	RecQ protein-like (DNA helicase Q1-like)		NA	7527136, 7961977	Standard	NM_002907	NM_002907	NA	Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.1608A>G	12.37:g.21624421T>C		NA	A8K6G2	37	CCDS31756.1																																																																																			RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402371.1		-	ENST00000444129.2	Silent	SNP	12 : 21624421 - 21624421 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	517	104
LPO	4025	broad.mit.edu	37	17	56343534	56343534	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56343534C>T	ENST00000262290.4	+	11	1856	c.1540C>T	c.(1540-1542)Cgg>Tgg	p.R514W	LPO_ENST00000543544.1_Missense_Mutation_p.R455W|LPO_ENST00000421678.2_Missense_Mutation_p.R431W|LPO_ENST00000582328.1_Missense_Mutation_p.R431W	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	514			R -> Q (in dbSNP:rs8178401).		hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TCCTCTGGTGCGGGGCCTGCT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	47	50			NA	NA	17		NA											NA				56343534		2203	4300	6503	SO:0001583	missense			M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	NA	4025	1.11.1.7		6678	protein-coding gene	gene with protein product		150205			NA	2222811, 8964511	Standard		NM_006151	NA	Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1540C>T	17.37:g.56343534C>T	ENSP00000262290:p.Arg514Trp	NA	Q13408|Q3KNQ2	37	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101119	0.76983	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	T;T;T	0.70986	-0.53;-0.53;-0.53	6.06	3.95	0.45737	.	0.049849	0.85682	D	0.000000	D	0.88142	0.6357	H	0.95712	3.71	0.51767	D	0.999931	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91681	0.5358	10	0.87932	D	0	-36.0285	14.2005	0.65699	0.2853:0.7147:0.0:0.0	.	431;514	E7EMJ3;P22079	.;PERL_HUMAN	W	514;431;455;259	ENSP00000262290:R514W;ENSP00000400245:R431W;ENSP00000445344:R455W	ENSP00000262290:R514W	R	+	1	2	LPO	53698533	0.039000	0.19947	0.954000	0.39281	0.996000	0.88848	0.408000	0.21065	1.522000	0.49001	0.655000	0.94253	CGG	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443961.1		+	ENST00000262290.4	Missense_Mutation	SNP	17 : 56343534 - 56343534 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	222	40
FHOD3	80206	broad.mit.edu	37	18	34205676	34205676	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34205676G>A	ENST00000590592.1	+	10	1160	c.1160G>A	c.(1159-1161)aGc>aAc	p.S387N	FHOD3_ENST00000257209.4_Missense_Mutation_p.S387N|FHOD3_ENST00000591635.1_Missense_Mutation_p.A62T|FHOD3_ENST00000445677.1_Missense_Mutation_p.S387N|FHOD3_ENST00000359247.4_Missense_Mutation_p.S387N	NM_001281740.1	NP_001268669.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	387	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TCAGCTCCCAGCTTCAAGCCC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	123	122			NA	NA	18		NA											NA				34205676		2203	4300	6503	SO:0001583	missense			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775	80206	80206			26178	protein-coding gene	gene with protein product		609691			NA	11214970	Standard	XM_371114	NM_025135	NA	Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000590592.1:c.1160G>A	18.37:g.34205676G>A	ENSP00000466937:p.Ser387Asn	NA	A8MQT4|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	37	CCDS32816.1	.	.	.	.	.	.	.	.	.	.	G	8.011	0.757616	0.15846	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.23754	1.89;1.89;1.89	5.18	1.13	0.20643	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);	0.639052	0.17160	N	0.184714	T	0.07369	0.0186	N	0.01438	-0.865	0.21802	N	0.999535	B;B;B;B	0.14805	0.005;0.0;0.0;0.011	B;B;B;B	0.11329	0.003;0.001;0.001;0.006	T	0.38178	-0.9673	10	0.15066	T	0.55	.	6.0063	0.19549	0.1994:0.3673:0.4333:0.0	.	387;387;387;387	Q2V2M9-2;Q2V2M9;Q2V2M9-3;E5F5Q0	.;FHOD3_HUMAN;.;.	N	387	ENSP00000257209:S387N;ENSP00000352186:S387N;ENSP00000411430:S387N	ENSP00000257209:S387N	S	+	2	0	FHOD3	32459674	0.009000	0.17119	0.137000	0.22149	0.985000	0.73830	0.334000	0.19787	0.138000	0.18790	0.655000	0.94253	AGC	FHOD3-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460883.1		+	ENST00000590592.1	Missense_Mutation	SNP	18 : 34205676 - 34205676 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1130	95
HAS1	3036	broad.mit.edu	37	19	52217270	52217270	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52217270A>G	ENST00000540069.2	-	5	1204	c.1144T>C	c.(1144-1146)Tac>Cac	p.Y382H	HAS1_ENST00000222115.1_Missense_Mutation_p.Y383H|HAS1_ENST00000594621.1_Missense_Mutation_p.V212A|HAS1_ENST00000601714.1_Missense_Mutation_p.Y390H			Q92839	HAS1_HUMAN	hyaluronan synthase 1	383					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TCACGGAAGTACGACTTGGAC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(132;636 2450 45807 47979)							NA				0													53	34	41			NA	NA	19		NA											NA				52217270		2200	4299	6499	SO:0001583	missense			U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	3036	3036	2.4.1.212	Glycosyltransferase family 2 domain containing	4818	protein-coding gene	gene with protein product		601463		HAS	NA	9169154	Standard	NM_001523	XM_005258834	NA	Approved		uc002pxo.1	Q92839		ENST00000540069.2:c.1144T>C	19.37:g.52217270A>G	ENSP00000445021:p.Tyr382His	NA	Q14470|Q9NS49	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	15.36|15.36	2.811727|2.811727	0.50527|0.50527	.|.	.|.	ENSG00000105509|ENSG00000105509	ENST00000376738|ENST00000540069;ENST00000222115	.|T;T	.|0.59502	.|0.26;0.26	3.22|3.22	3.22|3.22	0.36961|0.36961	.|.	.|0.000000	.|0.64402	.|U	.|0.000001	T|T	0.67951|0.67951	0.2948|0.2948	M|M	0.63843|0.63843	1.955|1.955	0.52099|0.52099	D|D	0.99994|0.99994	.|D;D;D	.|0.56968	.|0.973;0.978;0.978	.|D;P;P	.|0.63877	.|0.919;0.896;0.896	T|T	0.70687|0.70687	-0.4803|-0.4803	6|10	0.87932|0.87932	D|D	0|0	-29.6232|-29.6232	9.7917|9.7917	0.40710|0.40710	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|382;383;382	.|G3V1S7;Q92839;Q8IYH3	.|.;HAS1_HUMAN;.	A|H	212|382;383	.|ENSP00000445021:Y382H;ENSP00000222115:Y383H	ENSP00000365928:V212A|ENSP00000222115:Y383H	V|Y	-|-	2|1	0|0	HAS1|HAS1	56909082|56909082	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.211000|0.211000	0.24417|0.24417	9.026000|9.026000	0.93700|0.93700	1.480000|1.480000	0.48289|0.48289	0.147000|0.147000	0.16070|0.16070	GTA|TAC	HAS1-001	NOVEL	NAGNAG_splice_site|basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000466902.2		-	ENST00000540069.2	Missense_Mutation	SNP	19 : 52217270 - 52217270 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	161	35
TPTE	7179	broad.mit.edu	37	21	10914364	10914364	+	Splice_Site	SNP	G	G	A	rs147105244		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:10914364G>A	ENST00000298232.7	-	20	1668	c.1301C>T	c.(1300-1302)tCg>tTg	p.S434L	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Splice_Site_p.S452L|TPTE_ENST00000342420.5_Splice_Site_p.S414L	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	452	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.S434L(1)|p.S452L(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTCTCTTACCGAACATTTTCC	0.323		NA												1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	4e-04	0.95	EXOME	NA	NA	0.005	SNP								NA				2	Substitution - Missense(2)	lung(2)											69	61	64			NA	NA	21		NA											NA				10914364		2203	4297	6500	SO:0001630	splice_region_variant			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391	7179	7179		Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs	12023	protein-coding gene	gene with protein product	PTEN-related tyrosine phosphatase, cancer/testis antigen 44	604336			NA	10830953, 14659893	Standard		NM_001290224	NA	Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000298232.7:c.1302+1C>T	21.37:g.10914364G>A		NA	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	37	CCDS33512.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	6.164	0.398388	0.11696	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.85258	-1.96;-1.96;-1.96	2.15	-4.3	0.03710	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.599517	0.17053	U	0.188874	T	0.68559	0.3014	L	0.36672	1.1	0.09310	N	1	B;B;B	0.23442	0.001;0.003;0.085	B;B;B	0.20184	0.005;0.005;0.028	T	0.54476	-0.8288	10	0.39692	T	0.17	3.7407	0.1082	0.00054	0.262:0.2651:0.1721:0.3007	.	414;434;452	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	L	434;452;414	ENSP00000298232:S434L;ENSP00000355208:S452L;ENSP00000344441:S414L	ENSP00000298232:S434L	S	-	2	0	TPTE	9936235	0.008000	0.16893	0.024000	0.17045	0.133000	0.20885	-1.503000	0.02277	-1.193000	0.02688	0.184000	0.17185	TCG	TPTE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157412.2	Missense_Mutation	-	ENST00000298232.7	Splice_Site	SNP	21 : 10914364 - 10914364 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	20
MDP1	145553	broad.mit.edu	37	14	24684946	24684946	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24684946C>T	ENST00000288087.7	-	2	206	c.95G>A	c.(94-96)aGc>aAc	p.S32N	NEDD8-MDP1_ENST00000604306.1_5'UTR|NEDD8-MDP1_ENST00000534348.1_Intron|AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000532557.1_5'UTR|MDP1_ENST00000396833.2_Missense_Mutation_p.S32N	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2			magnesium-dependent phosphatase 1	NA										breast(2)|large_intestine(2)|lung(3)	7						ACCTCACCTGCTCTTATGGAA	0.597		NA									OREG0022620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	166	168			NA	NA	14		NA											NA				24684946		2203	4300	6503	SO:0001583	missense			BC046912	CCDS9620.1, CCDS55908.1	14q12	2009-07-09			ENSG00000213920	ENSG00000213920	145553	145553			28781	protein-coding gene	gene with protein product	fructosamine-6-phosphatase				NA	10889041, 16670083	Standard	NM_138476	NM_138476	NA	Approved	MGC5987, FN6Pase		Q86V88	OTTHUMG00000133477	ENST00000288087.7:c.95G>A	14.37:g.24684946C>T	ENSP00000288087:p.Ser32Asn	773		37	CCDS9620.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364688	0.61513	.	.	ENSG00000213920	ENST00000288087;ENST00000396833	D;D	0.97303	-4.33;-4.33	4.92	4.03	0.46877	HAD-like domain (2);HAD-superfamily phosphatase, subfamily IIIC (1);	.	.	.	.	D	0.92021	0.7472	N	0.17872	0.535	0.22601	N	0.998946	B;B;B	0.14012	0.009;0.001;0.002	B;B;B	0.10450	0.005;0.001;0.001	T	0.82544	-0.0404	9	0.17832	T	0.49	.	9.3942	0.38392	0.0:0.9028:0.0:0.0972	.	32;32;32	Q86V88-3;Q86V88;Q86V88-2	.;MGDP1_HUMAN;.	N	32	ENSP00000288087:S32N;ENSP00000380045:S32N	ENSP00000288087:S32N	S	-	2	0	MDP1	23754786	0.577000	0.26708	0.994000	0.49952	0.992000	0.81027	0.390000	0.20768	1.432000	0.47375	0.655000	0.94253	AGC	MDP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257367.1		-	ENST00000288087.7	Missense_Mutation	SNP	14 : 24684946 - 24684946 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1136	180
MYBPC2	4606	broad.mit.edu	37	19	50944251	50944251	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50944251C>T	ENST00000357701.5	+	8	738	c.687C>T	c.(685-687)atC>atT	p.I229I		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	229					cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		ACGAGAAAATCGCCTTCCAGT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	45	44			NA	NA	19		NA											NA				50944251		2093	4247	6340	SO:0001819	synonymous_variant				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967	4606	4606		Myosin binding proteins, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	7550	protein-coding gene	gene with protein product	fast-type muscle myosin-binding-protein C	160793	myosin-binding protein C, fast-type		NA	8375400	Standard	NM_004533	NM_004533	NA	Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.687C>T	19.37:g.50944251C>T		NA	A1L4G9	37	CCDS46152.1																																																																																			MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464751.1		+	ENST00000357701.5	Silent	SNP	19 : 50944251 - 50944251 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	115	25
MAGEB16	139604	broad.mit.edu	37	X	35820969	35820969	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:35820969G>A	ENST00000399989.1	+	2	935	c.656G>A	c.(655-657)cGt>cAt	p.R219H	MAGEB16_ENST00000399992.1_Missense_Mutation_p.R251H|MAGEB16_ENST00000399988.1_Missense_Mutation_p.R219H|MAGEB16_ENST00000399987.1_Missense_Mutation_p.R219H|MAGEB16_ENST00000399985.1_Missense_Mutation_p.R219H	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	219	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						AAGGGCAACCGTGCCACTGAA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	83	84			NA	NA	X		NA											NA				35820969		2188	4294	6482	SO:0001583	missense				CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023	139604	139604			21188	protein-coding gene	gene with protein product		300762	melanoma antigen family B, 16 (pseudogene)		NA	11454705	Standard		NM_001099921	NA	Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.656G>A	X.37:g.35820969G>A	ENSP00000382871:p.Arg219His	NA	A8MU30	37	CCDS43927.1	.	.	.	.	.	.	.	.	.	.	G	5.467	0.271307	0.10349	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.04706	3.57;3.57;3.57;3.57;3.57	3.13	1.28	0.21552	.	1.580770	0.03543	N	0.224295	T	0.04452	0.0122	L	0.41236	1.265	0.23036	N	0.998394	B	0.29531	0.247	B	0.25291	0.059	T	0.42732	-0.9434	10	0.12766	T	0.61	.	3.3475	0.07141	0.1447:0.0:0.6028:0.2526	.	219	A2A368	MAGBG_HUMAN	H	219;251;219;219;219	ENSP00000382870:R219H;ENSP00000382874:R251H;ENSP00000382869:R219H;ENSP00000382871:R219H;ENSP00000382867:R219H	ENSP00000382867:R219H	R	+	2	0	MAGEB16	35730890	0.000000	0.05858	0.836000	0.33094	0.001000	0.01503	-0.306000	0.08178	0.225000	0.20959	-0.367000	0.07326	CGT	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251034.1		+	ENST00000399989.1	Missense_Mutation	SNP	X : 35820969 - 35820969 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	200	70
SLC35A4	113829	broad.mit.edu	37	5	139947164	139947164	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139947164G>A	ENST00000514199.1	+	2	2096	c.410G>A	c.(409-411)cGc>cAc	p.R137H	APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000323146.3_Missense_Mutation_p.R137H			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	137	Leu-rich.					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity	p.R137L(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCGGCACCGCCTCTCTGTG	0.592		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)											41	42	42			NA	NA	5		NA											NA				139947164		2203	4300	6503	SO:0001583	missense			AJ420598	CCDS4231.1	5q31.3	2013-05-22			ENSG00000176087	ENSG00000176087	113829	113829		Solute carriers	20753	protein-coding gene	gene with protein product					NA		Standard	NM_080670	NM_080670	NA	Approved		uc003lgg.1	Q96G79	OTTHUMG00000129495	ENST00000514199.1:c.410G>A	5.37:g.139947164G>A	ENSP00000424566:p.Arg137His	NA	A8K013	37	CCDS4231.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.856334	0.51376	.	.	ENSG00000176087	ENST00000323146;ENST00000514199	T;T	0.49720	0.77;0.77	5.11	4.23	0.50019	.	0.062145	0.64402	N	0.000009	T	0.46521	0.1397	M	0.72894	2.215	0.53005	D	0.999962	B	0.31351	0.32	B	0.29942	0.109	T	0.44097	-0.9350	9	.	.	.	.	13.2176	0.59869	0.0774:0.0:0.9226:0.0	.	137	Q96G79	S35A4_HUMAN	H	137	ENSP00000327133:R137H;ENSP00000424566:R137H	.	R	+	2	0	SLC35A4	139927348	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.395000	0.79876	1.381000	0.46364	0.514000	0.50259	CGC	SLC35A4-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372815.1		+	ENST00000514199.1	Missense_Mutation	SNP	5 : 139947164 - 139947164 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	386	88
ZNF473	25888	broad.mit.edu	37	19	50548036	50548036	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50548036C>T	ENST00000595661.1	+	6	831	c.336C>T	c.(334-336)ttC>ttT	p.F112F	CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000270617.3_Silent_p.F112F|ZNF473_ENST00000391821.2_Silent_p.F112F|ZNF473_ENST00000445728.3_Silent_p.F100F|ZNF473_ENST00000601364.1_Intron			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	112					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		ACTCCAATTTCGGAGAAGCCT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	64	64			NA	NA	19		NA											NA				50548036		2203	4300	6503	SO:0001819	synonymous_variant			AB032967	CCDS33077.1	19q13.33	2013-01-08					25888	25888		Zinc fingers, C2H2-type, -	23239	protein-coding gene	gene with protein product					NA	11782445	Standard	XM_046390	NM_015428	NA	Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.336C>T	19.37:g.50548036C>T		NA	A8K8T7|Q9ULS9|Q9Y4Q7	37	CCDS33077.1																																																																																			ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464833.1		+	ENST00000595661.1	Silent	SNP	19 : 50548036 - 50548036 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	351	74
CSMD3	114788	broad.mit.edu	37	8	113348918	113348918	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113348918G>T	ENST00000297405.5	-	44	7226	c.6982C>A	c.(6982-6984)Ctt>Att	p.L2328I	CSMD3_ENST00000352409.3_Missense_Mutation_p.L2258I|CSMD3_ENST00000455883.2_Missense_Mutation_p.L2224I|CSMD3_ENST00000343508.3_Missense_Mutation_p.L2288I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2328	CUB 13.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCTGTTTGAAGGACAGTAAAA	0.333		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	116	116			NA	NA	8		NA											NA				113348918		2203	4300	6503	SO:0001583	missense			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796	114788	114788			19291	protein-coding gene	gene with protein product		608399			NA		Standard	NM_052900	NM_052900	NA	Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6982C>A	8.37:g.113348918G>T	ENSP00000297405:p.Leu2328Ile	NA	Q96PZ3	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480405	0.63849	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	5.64	5.64	0.86602	CUB (5);	0.193950	0.34025	N	0.004330	T	0.40956	0.1138	L	0.39245	1.2	0.49213	D	0.999767	B;B;D	0.89917	0.145;0.02;1.0	B;B;D	0.91635	0.159;0.074;0.999	T	0.02893	-1.1097	10	0.49607	T	0.09	.	19.8946	0.96949	0.0:0.0:1.0:0.0	.	2224;2328;2288	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	I	2288;2328;1598;2224;2258	ENSP00000345799:L2288I;ENSP00000297405:L2328I;ENSP00000341558:L1598I;ENSP00000412263:L2224I;ENSP00000343124:L2258I	ENSP00000297405:L2328I	L	-	1	0	CSMD3	113418094	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.617000	0.67716	2.937000	0.99478	0.650000	0.86243	CTT	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347141.1		-	ENST00000297405.5	Missense_Mutation	SNP	8 : 113348918 - 113348918 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	616	105
C10orf76	79591	broad.mit.edu	37	10	103783272	103783272	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103783272C>T	ENST00000370033.4	-	8	750	c.631G>A	c.(631-633)Gtc>Atc	p.V211I		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	211						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		GCCAAGAGGACGACAGCATCA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	116	117			NA	NA	10		NA											NA				103783272		1940	4149	6089	SO:0001583	missense			AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029	79591	79591			25788	protein-coding gene	gene with protein product					NA	14702039	Standard	NM_024541	NM_024541	NA	Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.631G>A	10.37:g.103783272C>T	ENSP00000359050:p.Val211Ile	NA	Q2TB87|Q9H8Z9	37	CCDS41563.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.427440	0.43122	.	.	ENSG00000120029	ENST00000370033	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.45796	0.1360	L	0.34521	1.04	0.80722	D	1	B	0.33345	0.409	B	0.22753	0.041	T	0.39941	-0.9589	9	0.29301	T	0.29	-12.1907	18.8547	0.92247	0.0:1.0:0.0:0.0	.	211	Q5T2E6	CJ076_HUMAN	I	211	.	ENSP00000359050:V211I	V	-	1	0	C10orf76	103773262	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	7.480000	0.81109	2.526000	0.85167	0.467000	0.42956	GTC	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050007.1		-	ENST00000370033.4	Missense_Mutation	SNP	10 : 103783272 - 103783272 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	71
CDC42BPG	55561	broad.mit.edu	37	11	64607741	64607741	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64607741C>T	ENST00000342711.5	-	5	432		c.e5-1			NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	NA					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						TCACAAGGTACTGGAGGTGGC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	52	56			NA	NA	11		NA											NA				64607741		2201	4297	6498	SO:0001630	splice_region_variant			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219	55561	55561		Pleckstrin homology (PH) domain containing	29829	protein-coding gene	gene with protein product		613991			NA	9341881, 15194684	Standard	XM_290516	NM_017525	NA	Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.433-1G>A	11.37:g.64607741C>T		NA	O00565	37	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154984	0.78114	.	.	ENSG00000171219	ENST00000342711	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7448	0.85469	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDC42BPG	64364317	1.000000	0.71417	0.998000	0.56505	0.757000	0.42996	7.668000	0.83897	2.621000	0.88768	0.655000	0.94253	.	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000105352.4	Intron	-	ENST00000342711.5	Splice_Site	SNP	11 : 64607741 - 64607741 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	220	48
CERS5	91012	broad.mit.edu	37	12	50529583	50529583	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50529583G>T	ENST00000317551.6	-	8	928	c.804C>A	c.(802-804)ctC>ctA	p.L268L	CERS5_ENST00000422340.2_Silent_p.L210L	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	268	TLC.				ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity				NA						GGGTGTCACAGAGCCGCTGAT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	107	110			NA	NA	12		NA											NA				50529583		2203	4300	6503	SO:0001819	synonymous_variant				CCDS8801.1, CCDS61120.1	12q13.12	2014-09-04	2011-07-08	2011-07-08	ENSG00000139624		91012	91012		Homeoboxes / CERS class	23749	protein-coding gene	gene with protein product		615335	LAG1 longevity assurance homolog 5 (S. cerevisiae), LAG1 homolog, ceramide synthase 5	LASS5	NA		Standard	NM_147190	NM_147190	NA	Approved	Trh4, MGC45411, FLJ25304	uc001rwd.4	Q8N5B7	OTTHUMG00000169819	ENST00000317551.6:c.804C>A	12.37:g.50529583G>T		NA		37	CCDS8801.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.936|8.936	0.964520|0.964520	0.18583|0.18583	.|.	.|.	ENSG00000139624|ENSG00000139624	ENST00000550919|ENST00000550547;ENST00000547800	D|.	0.85702|.	-2.02|.	4.56|4.56	0.619|0.619	0.17630|0.17630	.|.	0.230343|.	0.36778|.	N|.	0.002416|.	T|T	0.40522|0.40522	0.1120|0.1120	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.23404|0.23404	-1.0189|-1.0189	7|4	0.45353|.	T|.	0.12|.	-16.5362|-16.5362	0.9687|0.9687	0.01411|0.01411	0.2263:0.217:0.3521:0.2045|0.2263:0.217:0.3521:0.2045	.|.	.|.	.|.	.|.	M|Y	38|70;172	ENSP00000449311:L38M|.	ENSP00000449311:L38M|.	L|S	-|-	1|2	2|0	CERS5|CERS5	48815850|48815850	0.012000|0.012000	0.17670|0.17670	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	-0.793000|-0.793000	0.04589|0.04589	0.242000|0.242000	0.21303|0.21303	0.655000|0.655000	0.94253|0.94253	CTG|TCT	CERS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406069.3		-	ENST00000317551.6	Silent	SNP	12 : 50529583 - 50529583 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	558	105
KIAA1614	57710	broad.mit.edu	37	1	180886166	180886166	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180886166C>T	ENST00000367588.4	+	2	982	c.927C>T	c.(925-927)aaC>aaT	p.N309N		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	309										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AGATGCTCAACGTTTCTGGGC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	43	41			NA	NA	1		NA											NA				180886166		2009	4180	6189	SO:0001819	synonymous_variant			AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835	57710	57710			29327	protein-coding gene	gene with protein product					NA		Standard	XM_046531	NM_020950	NA	Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.927C>T	1.37:g.180886166C>T		NA	Q5VZ45|Q9HCF8	37	CCDS41442.1																																																																																			KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085151.1		+	ENST00000367588.4	Silent	SNP	1 : 180886166 - 180886166 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	336	62
NKG7	4818	broad.mit.edu	37	19	51875714	51875714	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51875714C>T	ENST00000221978.5	-	1	255	c.76G>A	c.(76-78)Gat>Aat	p.D26N	NKG7_ENST00000600427.1_Missense_Mutation_p.D26N|NKG7_ENST00000595217.1_Missense_Mutation_p.D26N	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell granule protein 7	26						integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AACCAGAAATCGGTGCTCAAA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ASN/ASP	0,4406		0,0,2203	83	83	83		76	-1	0.5	19		83	1,8599	1.2+/-3.3	0,1,4299	no	missense	NKG7	NM_005601.3	23	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign	26/166	51875714	1,13005	2203	4300	6503	SO:0001583	missense				CCDS12830.1	19q13.41	2014-03-07	2014-03-07		ENSG00000105374	ENSG00000105374	4818	4818			7830	protein-coding gene	gene with protein product	granule membrane protein 17	606008	natural killer cell group 7 sequence		NA	8458737	Standard	NM_005601	NM_005601	NA	Approved	GIG1, GMP-17	uc002pwj.3	Q16617	OTTHUMG00000182898	ENST00000221978.5:c.76G>A	19.37:g.51875714C>T	ENSP00000221978:p.Asp26Asn	NA		37	CCDS12830.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.435883	0.43224	0.0	1.16E-4	ENSG00000105374	ENST00000221978	D	0.89552	-2.53	4.98	-1.04	0.10068	.	0.464649	0.18207	N	0.148306	T	0.79246	0.4413	L	0.39397	1.21	0.23681	N	0.997127	B	0.28850	0.225	B	0.25759	0.063	T	0.63637	-0.6592	10	0.20519	T	0.43	0.9973	7.6275	0.28220	0.0:0.4564:0.0:0.5436	.	26	Q16617	NKG7_HUMAN	N	26	ENSP00000221978:D26N	ENSP00000221978:D26N	D	-	1	0	NKG7	56567526	0.001000	0.12720	0.452000	0.26994	0.434000	0.31775	-0.128000	0.10531	-0.229000	0.09854	0.561000	0.74099	GAT	NKG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464260.2		-	ENST00000221978.5	Missense_Mutation	SNP	19 : 51875714 - 51875714 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	592	136
CCL27	10850	broad.mit.edu	37	9	34662348	34662348	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34662348G>T	ENST00000259631.4	-	2	194	c.136C>A	c.(136-138)Cta>Ata	p.L46I	CCL27_ENST00000557161.1_5'UTR|RP11-195F19.30_ENST00000564224.1_RNA	NM_006664.2	NP_006655.1	Q9Y4X3	CCL27_HUMAN	chemokine (C-C motif) ligand 27	46					cell-cell signaling|chemotaxis|immune response	extracellular space	chemokine activity			kidney(1)|large_intestine(3)|ovary(1)	5	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		TTCCTCAGTAGCTTGTCTGAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	67	71			NA	NA	9		NA											NA				34662348		2203	4300	6503	SO:0001583	missense			AJ243542	CCDS6569.1	9p13	2014-05-16	2002-08-22	2002-08-23	ENSG00000213927	ENSG00000213927	10850	10850		Chemokine ligands, Endogenous ligands	10626	protein-coding gene	gene with protein product	CC chemokine ILC, IL-11 Ralpha-locus chemokine, cutaneous T-cell attracting chemokine	604833	small inducible cytokine subfamily A (Cys-Cys), member 27	SCYA27	NA	10556532, 10588729	Standard	NM_006664	NM_006664	NA	Approved	ALP, ILC, CTACK, skinkine, ESkine, PESKY, CTAK	uc003zvm.1	Q9Y4X3	OTTHUMG00000019834	ENST00000259631.4:c.136C>A	9.37:g.34662348G>T	ENSP00000259631:p.Leu46Ile	NA		37	CCDS6569.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.786428	0.70337	.	.	ENSG00000213927	ENST00000259631	T	0.05139	3.49	5.37	3.46	0.39613	Chemokine interleukin-8-like domain (2);	0.000000	0.43579	D	0.000546	T	0.08044	0.0201	L	0.57536	1.79	0.28183	N	0.928067	B	0.31769	0.339	B	0.33690	0.168	T	0.10941	-1.0608	10	0.66056	D	0.02	-4.2276	7.1555	0.25635	0.0913:0.0:0.7357:0.173	.	46	Q9Y4X3	CCL27_HUMAN	I	46	ENSP00000259631:L46I	ENSP00000259631:L46I	L	-	1	2	CCL27	34652348	0.997000	0.39634	0.989000	0.46669	0.914000	0.54420	1.300000	0.33436	1.355000	0.45865	0.557000	0.71058	CTA	CCL27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052228.1		-	ENST00000259631.4	Missense_Mutation	SNP	9 : 34662348 - 34662348 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	251	42
COL4A4	1286	broad.mit.edu	37	2	227966227	227966227	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:227966227C>A	ENST00000396625.3	-	17	1229	c.1022G>T	c.(1021-1023)gGc>gTc	p.G341V	COL4A4_ENST00000329662.7_Missense_Mutation_p.G341V	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	341	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TACCTTTGGGCCAATTAATCC	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	41	43			NA	NA	2		NA											NA				227966227		1790	4068	5858	SO:0001583	missense				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052	1286	1286		Collagens	2206	protein-coding gene	gene with protein product	collagen of basement membrane, alpha-4 chain	120131			NA	1639407	Standard	NM_000092	NM_000092	NA	Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1022G>T	2.37:g.227966227C>A	ENSP00000379866:p.Gly341Val	NA	A8MTZ1|Q53RW9|Q53S42|Q53WR1	37	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016752	0.54468	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.99353	-5.77;-5.77	5.54	5.54	0.83059	.	.	.	.	.	D	0.99606	0.9857	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97902	1.0303	9	0.87932	D	0	.	15.3403	0.74290	0.0:1.0:0.0:0.0	.	341	P53420	CO4A4_HUMAN	V	341	ENSP00000379866:G341V;ENSP00000328553:G341V	ENSP00000328553:G341V	G	-	2	0	COL4A4	227674471	0.995000	0.38212	0.988000	0.46212	0.423000	0.31445	3.739000	0.55075	2.779000	0.95612	0.591000	0.81541	GGC	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313770.1		-	ENST00000396625.3	Missense_Mutation	SNP	2 : 227966227 - 227966227 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	149	19
ZNF528	84436	broad.mit.edu	37	19	52918959	52918959	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52918959C>T	ENST00000391788.2	+	0	1512				ZNF528_ENST00000360465.3_Missense_Mutation_p.A285V			Q3MIS6	ZN528_HUMAN	zinc finger protein 528	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TCAAAGCTTGCACAACATCAA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	96	94			NA	NA	19		NA											NA				52918959		2203	4300	6503	SO:0001624	3_prime_UTR_variant			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555	84436	84436		Zinc fingers, C2H2-type, -	29384	protein-coding gene	gene with protein product		615580			NA	11347906	Standard	NM_032423	NM_032423	NA	Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000391788.2:c.*617C>T	19.37:g.52918959C>T		NA	B3KPN4|Q86T88|Q96JK0	37		.	.	.	.	.	.	.	.	.	.	C	5.309	0.242377	0.10077	.	.	ENSG00000167555	ENST00000360465	T	0.36520	1.25	1.99	-3.97	0.04094	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19167	0.0460	N	0.21617	0.685	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.16070	-1.0415	9	0.26408	T	0.33	.	6.4275	0.21778	0.1437:0.564:0.0:0.2923	.	285	Q3MIS6	ZN528_HUMAN	V	285	ENSP00000353652:A285V	ENSP00000353652:A285V	A	+	2	0	ZNF528	57610771	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.317000	0.02707	-1.826000	0.01205	-1.564000	0.00881	GCA	ZNF528-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000344337.3		+	ENST00000391788.2	3'UTR	SNP	19 : 52918959 - 52918959 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	433	77
MOCOS	55034	broad.mit.edu	37	18	33795562	33795562	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33795562G>A	ENST00000261326.5	+	8	1440	c.1419G>A	c.(1417-1419)tcG>tcA	p.S473S		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	473					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	GATACATGTCGACGCTGGATG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	71	71			NA	NA	18		NA											NA				33795562		2203	4300	6503	SO:0001819	synonymous_variant			AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643	55034	55034			18234	protein-coding gene	gene with protein product		613274			NA	11302742	Standard		NM_017947	NA	Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.1419G>A	18.37:g.33795562G>A		NA	Q53GP5|Q8N3A4|Q9NWM7	37	CCDS11919.1																																																																																			MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255801.1		+	ENST00000261326.5	Silent	SNP	18 : 33795562 - 33795562 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	258	44
SHD	56961	broad.mit.edu	37	19	4283065	4283065	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4283065G>T	ENST00000543264.2	+	3	1881	c.418G>T	c.(418-420)Ggg>Tgg	p.G140W	SHD_ENST00000599689.1_Missense_Mutation_p.G140W	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	140										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCGGCAGAGGGGTGCAGCT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	47	47			NA	NA	19		NA											NA				4283065		2203	4300	6503	SO:0001583	missense			BC007206	CCDS12125.1	19p13.3	2013-02-14				ENSG00000105251	56961	56961		SH2 domain containing	30633	protein-coding gene	gene with protein product		610481			NA	9315092	Standard	NM_020209	NM_020209	NA	Approved		uc002lzw.2	Q96IW2		ENST00000543264.2:c.418G>T	19.37:g.4283065G>T	ENSP00000446058:p.Gly140Trp	NA	Q96NC2	37	CCDS12125.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833978	0.50951	.	.	ENSG00000105251	ENST00000543264;ENST00000221852	T	0.30714	1.52	4.63	1.06	0.20224	.	0.875466	0.09879	N	0.743981	T	0.33818	0.0876	L	0.40543	1.245	0.09310	N	1	P;P	0.39883	0.693;0.669	P;P	0.48270	0.572;0.572	T	0.32134	-0.9918	10	0.87932	D	0	-5.7012	8.3173	0.32108	0.2958:0.0:0.7042:0.0	.	54;140	Q9NPN8;Q96IW2	.;SHD_HUMAN	W	140;55	ENSP00000446058:G140W	ENSP00000221852:G55W	G	+	1	0	SHD	4234065	0.000000	0.05858	0.000000	0.03702	0.171000	0.22731	0.356000	0.20181	0.189000	0.20188	0.448000	0.29417	GGG	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458082.1		+	ENST00000543264.2	Missense_Mutation	SNP	19 : 4283065 - 4283065 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	271	27
ZNF675	171392	broad.mit.edu	37	19	23845935	23845935	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23845935G>A	ENST00000359788.4	-	2	197	c.29C>T	c.(28-30)gCc>gTc	p.A10V	ZNF675_ENST00000601935.1_Missense_Mutation_p.A10V|ZNF675_ENST00000599168.1_Missense_Mutation_p.A10V|ZNF675_ENST00000600313.1_Missense_Mutation_p.A10V|ZNF675_ENST00000596211.1_Missense_Mutation_p.A10V|ZNF675_ENST00000601010.1_Missense_Mutation_p.A10V	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	10	KRAB.				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GAATTCTATGGCCACATCCCT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	101	99			NA	NA	19		NA											NA				23845935		2203	4300	6503	SO:0001583	missense				CCDS32981.1	19p12	2013-01-08					171392	171392		Zinc fingers, C2H2-type, -	30768	protein-coding gene	gene with protein product	TRAF6 inhibitory zinc finger				NA	11751921	Standard	NM_138330	NM_138330	NA	Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.29C>T	19.37:g.23845935G>A	ENSP00000352836:p.Ala10Val	NA	Q8N211	37	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	11.18	1.561883	0.27915	.	.	ENSG00000197372	ENST00000359788	T	0.03301	3.98	0.926	0.926	0.19430	Krueppel-associated box (4);	.	.	.	.	T	0.08268	0.0206	M	0.83312	2.635	0.09310	N	0.999999	P	0.35456	0.502	B	0.41619	0.361	T	0.18304	-1.0341	9	0.51188	T	0.08	.	4.9893	0.14205	0.0:0.0:1.0:0.0	.	10	Q8TD23	ZN675_HUMAN	V	10	ENSP00000352836:A10V	ENSP00000352836:A10V	A	-	2	0	ZNF675	23637775	0.198000	0.23374	0.049000	0.19019	0.050000	0.14768	1.691000	0.37721	0.308000	0.22923	0.313000	0.20887	GCC	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466433.1		-	ENST00000359788.4	Missense_Mutation	SNP	19 : 23845935 - 23845935 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	827	145
PFAS	5198	broad.mit.edu	37	17	8169597	8169597	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8169597T>C	ENST00000314666.6	+	22	2880	c.2747T>C	c.(2746-2748)gTc>gCc	p.V916A	PFAS_ENST00000545834.1_Missense_Mutation_p.V492A	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	916					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GGAGGCCTCGTCACATGCCTG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	91	98			NA	NA	17		NA											NA				8169597		2203	4300	6503	SO:0001583	missense			AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	5198	5198	6.3.5.3		8863	protein-coding gene	gene with protein product	FGAR amidotransferase	602133			NA	8110788	Standard		NM_012393	NA	Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.2747T>C	17.37:g.8169597T>C	ENSP00000313490:p.Val916Ala	NA	A6H8V8	37	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	T	14.05	2.420625	0.42918	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.14766	2.48;2.48	5.92	5.92	0.95590	AIR synthase-related protein, C-terminal (2);	0.358875	0.30820	N	0.008814	T	0.13500	0.0327	L	0.32530	0.975	0.46149	D	0.998891	B	0.18461	0.028	B	0.20577	0.03	T	0.02758	-1.1114	10	0.72032	D	0.01	-7.6971	14.3183	0.66468	0.0:0.0:0.0:1.0	.	916	O15067	PUR4_HUMAN	A	492;916;325	ENSP00000441706:V492A;ENSP00000313490:V916A	ENSP00000313490:V916A	V	+	2	0	PFAS	8110322	1.000000	0.71417	0.956000	0.39512	0.512000	0.34134	7.475000	0.81041	2.274000	0.75844	0.533000	0.62120	GTC	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226994.2		+	ENST00000314666.6	Missense_Mutation	SNP	17 : 8169597 - 8169597 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	333	54
KIAA1109	84162	broad.mit.edu	37	4	123249281	123249281	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123249281A>G	ENST00000264501.4	+	66	11391	c.11018A>G	c.(11017-11019)gAc>gGc	p.D3673G	KIAA1109_ENST00000388738.3_Missense_Mutation_p.D3673G			Q2LD37	K1109_HUMAN	KIAA1109	3673					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ACAGAACTGGACCTTTTGTCA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	51	52			NA	NA	4		NA											NA				123249281		1835	4079	5914	SO:0001583	missense			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688	84162	84162			26953	protein-coding gene	gene with protein product	fragile site-associated	611565			NA	16386706	Standard	NM_020797	NM_015312	NA	Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.11018A>G	4.37:g.123249281A>G	ENSP00000264501:p.Asp3673Gly	NA	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.7|22.7	4.321035|4.321035	0.81580|0.81580	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707|ENST00000306802	T;T;T|.	0.39592|.	2.2;2.2;1.07|.	5.57|5.57	4.37|4.37	0.52481|0.52481	.|.	0.066944|.	0.64402|.	N|.	0.000017|.	T|T	0.35624|0.35624	0.0938|0.0938	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B|.	0.13594|.	0.008;0.007|.	B;B|.	0.12156|.	0.007;0.005|.	T|T	0.18681|0.18681	-1.0329|-1.0329	10|5	0.31617|.	T|.	0.26|.	.|.	11.7505|11.7505	0.51845|0.51845	0.9296:0.0:0.0704:0.0|0.9296:0.0:0.0704:0.0	.|.	3672;3673|.	Q2LD37-4;Q2LD37|.	.;K1109_HUMAN|.	G|A	3673;3673;377|84	ENSP00000264501:D3673G;ENSP00000373390:D3673G;ENSP00000410874:D377G|.	ENSP00000264501:D3673G|.	D|T	+|+	2|1	0|0	KIAA1109|KIAA1109	123468731|123468731	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.404000|7.404000	0.79996|0.79996	2.120000|2.120000	0.65058|0.65058	0.383000|0.383000	0.25322|0.25322	GAC|ACC	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316415.1		+	ENST00000264501.4	Missense_Mutation	SNP	4 : 123249281 - 123249281 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	163	20
DRAXIN	374946	broad.mit.edu	37	1	11766593	11766593	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11766593C>A	ENST00000294485.5	+	2	413	c.278C>A	c.(277-279)gCt>gAt	p.A93D		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein	NA											NA						CTGCCAGAGGCTGAGGGGCTG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	14	13			NA	NA	1		NA											NA				11766593		2191	4292	6483	SO:0001583	missense			AY358750	CCDS135.1	1p36.22	2012-08-20	2012-08-14	2012-08-14	ENSG00000162490	ENSG00000162490	374946	374946			25054	protein-coding gene	gene with protein product	dorsal repulsive axon guidance protein, neural tissue-specific cysteine-rich protein	612682	chromosome 1 open reading frame 187	C1orf187	NA	19150847	Standard	NM_198545	NM_198545	NA	Approved	FLJ34999, Draxin, Neucrin	uc001asr.1	Q8NBI3	OTTHUMG00000002227	ENST00000294485.5:c.278C>A	1.37:g.11766593C>A	ENSP00000294485:p.Ala93Asp	NA		37	CCDS135.1	.	.	.	.	.	.	.	.	.	.	C	8.906	0.957444	0.18507	.	.	ENSG00000162490	ENST00000294485	T	0.46063	0.88	3.91	1.56	0.23342	.	0.797324	0.10784	N	0.634574	T	0.34571	0.0902	L	0.51422	1.61	0.09310	N	1	B	0.29716	0.255	B	0.34931	0.192	T	0.32052	-0.9921	10	0.30078	T	0.28	-0.5133	3.845	0.08931	0.0:0.4017:0.2742:0.3241	.	93	Q8NBI3	DRAXI_HUMAN	D	93	ENSP00000294485:A93D	ENSP00000294485:A93D	A	+	2	0	C1orf187	11689180	0.000000	0.05858	0.004000	0.12327	0.194000	0.23727	0.007000	0.13174	0.459000	0.27016	0.313000	0.20887	GCT	DRAXIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006325.1		+	ENST00000294485.5	Missense_Mutation	SNP	1 : 11766593 - 11766593 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	123	26
INHBC	3626	broad.mit.edu	37	12	57843728	57843728	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57843728C>T	ENST00000309668.2	+	2	1109	c.982C>T	c.(982-984)Ctc>Ttc	p.L328F		NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	328					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						CCTGTCTCTGCTCTATTATGA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	66	65			NA	NA	12		NA											NA				57843728		2203	4300	6503	SO:0001583	missense				CCDS8938.1	12q13	2008-02-05				ENSG00000175189	3626	3626			6068	protein-coding gene	gene with protein product		601233			NA	7826378	Standard	NM_005538	NM_005538	NA	Approved		uc001snv.1	P55103	OTTHUMG00000169994	ENST00000309668.2:c.982C>T	12.37:g.57843728C>T	ENSP00000308716:p.Leu328Phe	NA	A1L3Y2	37	CCDS8938.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736685	0.69304	.	.	ENSG00000175189	ENST00000309668	D	0.87029	-2.2	4.27	4.27	0.50696	Transforming growth factor-beta, C-terminal (3);	0.066311	0.64402	D	0.000011	D	0.94663	0.8279	M	0.91920	3.255	0.50632	D	0.999884	D	0.89917	1.0	D	0.87578	0.998	D	0.95477	0.8557	9	.	.	.	-14.9598	16.6692	0.85261	0.0:1.0:0.0:0.0	.	328	P55103	INHBC_HUMAN	F	328	ENSP00000308716:L328F	.	L	+	1	0	INHBC	56129995	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.082000	0.50128	2.678000	0.91216	0.655000	0.94253	CTC	INHBC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406770.1		+	ENST00000309668.2	Missense_Mutation	SNP	12 : 57843728 - 57843728 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	483	92
PLEKHA4	57664	broad.mit.edu	37	19	49357476	49357476	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49357476C>A	ENST00000263265.6	-	10	1648	c.1093G>T	c.(1093-1095)Gat>Tat	p.D365Y	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.D340Y	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	365						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CAACTTACATCTGTCTCCAAG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	116	114			NA	NA	19		NA											NA				49357476		2203	4300	6503	SO:0001583	missense			AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559	NA	57664		Pleckstrin homology (PH) domain containing	14339	protein-coding gene	gene with protein product		607769	pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4		NA	11001876	Standard		NM_020904	NA	Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.1093G>T	19.37:g.49357476C>A	ENSP00000263265:p.Asp365Tyr	NA	Q8N4M8|Q8N658	37	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936060	0.73442	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.39056	1.1;1.1	5.2	5.2	0.72013	.	0.367900	0.25380	N	0.031082	T	0.61825	0.2378	M	0.64997	1.995	0.39509	D	0.968337	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.65672	-0.6111	10	0.87932	D	0	.	14.6028	0.68453	0.0:1.0:0.0:0.0	.	340;365	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	Y	365;340	ENSP00000263265:D365Y;ENSP00000347683:D340Y	ENSP00000263265:D365Y	D	-	1	0	PLEKHA4	54049288	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	3.439000	0.52878	2.580000	0.87095	0.563000	0.77884	GAT	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466216.1		-	ENST00000263265.6	Missense_Mutation	SNP	19 : 49357476 - 49357476 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	675	133
DOCK3	1795	broad.mit.edu	37	3	51251556	51251556	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51251556T>G	ENST00000266037.9	+	14	1153	c.1130T>G	c.(1129-1131)cTt>cGt	p.L377R		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	377						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTTGCAGGTCTTATCATTTCT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	97	99			NA	NA	3		NA											NA				51251556		1863	4121	5984	SO:0001583	missense			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538	1795	1795			2989	protein-coding gene	gene with protein product		603123	dedicator of cyto-kinesis 3		NA	9205841	Standard	NM_004947	NM_004947	NA	Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1130T>G	3.37:g.51251556T>G	ENSP00000266037:p.Leu377Arg	NA	O15017	37	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.412551	0.83340	.	.	ENSG00000088538	ENST00000266037	T	0.09163	3.01	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.40222	0.1108	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.48387	-0.9040	10	0.87932	D	0	.	15.6362	0.76953	0.0:0.0:0.0:1.0	.	377	Q8IZD9	DOCK3_HUMAN	R	377	ENSP00000266037:L377R	ENSP00000266037:L377R	L	+	2	0	DOCK3	51226596	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.483000	0.81158	2.155000	0.67459	0.533000	0.62120	CTT	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346478.5		+	ENST00000266037.9	Missense_Mutation	SNP	3 : 51251556 - 51251556 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	169	10
BPTF	2186	broad.mit.edu	37	17	65862587	65862587	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65862587G>T	ENST00000306378.6	+	3	1504	c.1444G>T	c.(1444-1446)Gat>Tat	p.D482Y	BPTF_ENST00000335221.5_Missense_Mutation_p.D482Y|BPTF_ENST00000321892.4_Missense_Mutation_p.D482Y|BPTF_ENST00000424123.3_Missense_Mutation_p.D343Y	NM_182641.3	NP_872579.2	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	482					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGAGAAGAAGATACAGAAAA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	76	73			NA	NA	17		NA											NA				65862587		2197	4296	6493	SO:0001583	missense			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634	2186	2186		Zinc fingers, PHD-type	3581	protein-coding gene	gene with protein product		601819	fetal Alzheimer antigen	FALZ	NA	8975731, 10662542, 16728976	Standard	NM_182641, NM_004459	NM_182641	NA	Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000306378.6:c.1444G>T	17.37:g.65862587G>T	ENSP00000307208:p.Asp482Tyr	NA	Q6NX67|Q7Z7D6|Q9UIG2	37	CCDS11673.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875642	0.51695	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.64991	-0.11;-0.13;-0.12	5.84	5.84	0.93424	.	.	.	.	.	T	0.66376	0.2783	L	0.49350	1.555	0.80722	D	1	B;P;P	0.47106	0.128;0.756;0.89	B;P;P	0.49683	0.03;0.619;0.6	T	0.68720	-0.5334	9	0.72032	D	0.01	.	14.9343	0.70941	0.0:0.0:0.8571:0.1429	.	482;482;482	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	Y	387;482;482;482;343	ENSP00000307208:D482Y;ENSP00000334351:D482Y;ENSP00000315454:D482Y	ENSP00000307208:D482Y	D	+	1	0	BPTF	63293049	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.618000	0.74214	2.760000	0.94817	0.655000	0.94253	GAT	BPTF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255334.2		+	ENST00000306378.6	Missense_Mutation	SNP	17 : 65862587 - 65862587 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	680	112
SLC34A2	10568	broad.mit.edu	37	4	25672428	25672428	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25672428G>A	ENST00000382051.3	+	8	950	c.900G>A	c.(898-900)aaG>aaA	p.K300K	SLC34A2_ENST00000503434.1_Silent_p.K299K|SLC34A2_ENST00000504570.1_Silent_p.K299K	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	300					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GTCTTGTCAAGATTTGGTGCA	0.408		NA	T	ROS1	NSCLC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		4	4p15.2	10568	solute carrier family 34 (sodium phosphate), member 2		E	0													80	71	74			NA	NA	4		NA											NA				25672428		2203	4300	6503	SO:0001819	synonymous_variant			AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765	10568	10568		Solute carriers	11020	protein-coding gene	gene with protein product		604217	solute carrier family 34 (sodium phosphate), member 2		NA	10329428, 10610722	Standard	NM_006424	NM_006424	NA	Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.900G>A	4.37:g.25672428G>A		NA	A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	37	CCDS3435.1																																																																																			SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214990.1		+	ENST00000382051.3	Silent	SNP	4 : 25672428 - 25672428 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	255	34
MCOLN1	57192	broad.mit.edu	37	19	7595344	7595344	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7595344G>A	ENST00000264079.6	+	12	1657	c.1532G>A	c.(1531-1533)aGc>aAc	p.S511N		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	511					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATGGTGCTCAGCCTCTTCATC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													239	224	229			NA	NA	19		NA											NA				7595344		2203	4300	6503	SO:0001583	missense			AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674	57192	57192		Voltage-gated ion channels / Transient receptor potential cation channels	13356	protein-coding gene	gene with protein product		605248			NA	16382100	Standard	NM_020533	NM_020533	NA	Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.1532G>A	19.37:g.7595344G>A	ENSP00000264079:p.Ser511Asn	NA	D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	37	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497304	0.85069	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	T	0.64260	-0.09	5.29	5.29	0.74685	Polycystin cation channel, PKD1/PKD2 (1);	0.092272	0.85682	D	0.000000	T	0.71651	0.3365	L	0.58583	1.82	0.58432	D	0.999999	P;P	0.50710	0.711;0.938	P;D	0.65233	0.747;0.933	T	0.65772	-0.6087	10	0.07325	T	0.83	.	16.4162	0.83743	0.0:0.0:1.0:0.0	.	476;511	Q9GZU1-2;Q9GZU1	.;MCLN1_HUMAN	N	511;476	ENSP00000264079:S511N	ENSP00000264079:S511N	S	+	2	0	MCOLN1	7501344	1.000000	0.71417	0.993000	0.49108	0.954000	0.61252	5.746000	0.68681	2.478000	0.83669	0.563000	0.77884	AGC	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458974.2		+	ENST00000264079.6	Missense_Mutation	SNP	19 : 7595344 - 7595344 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1466	309
FAM228A	653140	broad.mit.edu	37	2	24413339	24413339	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24413339G>A	ENST00000295150.3	+	6	546	c.460G>A	c.(460-462)Gac>Aac	p.D154N		NM_001040710.1	NP_001035800.1			family with sequence similarity 228, member A	NA								p.D154N(1)			NA						AAAGACGGCCGACCTAAGTCA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											49	50	50			NA	NA	2		NA											NA				24413339		1880	4100	5980	SO:0001583	missense				CCDS42659.1	2p23.3	2012-07-04	2012-07-04	2012-07-04	ENSG00000186453	ENSG00000186453	653140	653140			34418	protein-coding gene	gene with protein product			chromosome 2 open reading frame 84	C2orf84	NA		Standard	NM_001040710	NM_001040710	NA	Approved	FLJ30851	uc002rfc.3	Q86W67	OTTHUMG00000151903	ENST00000295150.3:c.460G>A	2.37:g.24413339G>A	ENSP00000295150:p.Asp154Asn	NA		37	CCDS42659.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.362046	0.41902	.	.	ENSG00000186453	ENST00000295150;ENST00000415196	T;T	0.47528	0.86;0.84	3.64	0.854	0.19007	.	0.356629	0.20561	N	0.089907	T	0.18759	0.0450	N	0.04959	-0.14	0.09310	N	1	B	0.27791	0.189	B	0.20184	0.028	T	0.17715	-1.0360	10	0.15952	T	0.53	3.0656	5.4725	0.16678	0.3768:0.0:0.6232:0.0	.	154	Q86W67	CB084_HUMAN	N	154;55	ENSP00000295150:D154N;ENSP00000416595:D55N	ENSP00000295150:D154N	D	+	1	0	C2orf84	24266843	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.410000	0.21098	0.166000	0.19597	-0.143000	0.13931	GAC	FAM228A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324342.1		+	ENST00000295150.3	Missense_Mutation	SNP	2 : 24413339 - 24413339 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	335	67
OR14K1	343170	broad.mit.edu	37	1	247902169	247902169	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247902169G>A	ENST00000283225.2	+	1	253	c.253G>A	c.(253-255)Gcc>Acc	p.A85T	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1	NA										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						CAACTCTGTCGCCTCCACTGA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4367		0,1,2183	118	118	118			-7.5	0	1		118	1,8583		0,1,4291	no	intergenic				0,2,6474	AA,AG,GG	NA	0.0116,0.0229,0.0154			247902169	2,12950	2184	4292	6476	SO:0001583	missense			BK004377		1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000153230	ENSG00000153230	343170	343170		GPCR / Class A : Olfactory receptors	15025	protein-coding gene	gene with protein product			olfactory receptor, family 5, subfamily AY, member 1	OR5AY1	NA		Standard	NM_001004732	NG_007559	NA	Approved			Q8NGZ2	OTTHUMG00000040211	ENST00000283225.2:c.253G>A	1.37:g.247902169G>A	ENSP00000283225:p.Ala85Thr	NA		37		.	.	.	.	.	.	.	.	.	.	A	0.139	-1.104688	0.01828	2.29E-4	1.16E-4	ENSG00000153230	ENST00000283225	T	0.01347	4.99	3.74	-7.48	0.01360	.	1.893990	0.04454	N	0.373174	T	0.00524	0.0017	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.46679	-0.9174	7	0.06625	T	0.88	.	2.2564	0.04056	0.1827:0.1107:0.1671:0.5394	.	.	.	.	T	85	ENSP00000283225:A85T	ENSP00000283225:A85T	A	+	1	0	OR14K1	245968792	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.761000	0.00786	-1.458000	0.01916	-1.716000	0.00709	GCC	OR14K1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000096868.1		+	ENST00000283225.2	Missense_Mutation	SNP	1 : 247902169 - 247902169 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	464	84
CATSPER1	117144	broad.mit.edu	37	11	65784598	65784598	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65784598T>G	ENST00000312106.5	-	11	2386	c.2249A>C	c.(2248-2250)gAg>gCg	p.E750A		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	750					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CTGCTCCTGCTCCACGCTTGC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	41	44			NA	NA	11		NA											NA				65784598		2201	4296	6497	SO:0001583	missense			AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294	117144	117144		Voltage-gated ion channels / Cation channels, sperm associated	17116	protein-coding gene	gene with protein product		606389			NA	11675491, 11595941, 16382101	Standard	NM_053054	NM_053054	NA	Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.2249A>C	11.37:g.65784598T>G	ENSP00000309052:p.Glu750Ala	NA	Q96P76	37	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.191042	0.58017	.	.	ENSG00000175294	ENST00000312106	D	0.97870	-4.58	5.39	5.39	0.77823	.	0.000000	0.32578	U	0.005910	D	0.97390	0.9146	L	0.34521	1.04	0.35202	D	0.774331	D	0.76494	0.999	D	0.80764	0.994	D	0.99951	1.1543	10	0.72032	D	0.01	-30.7008	11.8523	0.52417	0.0:0.0:0.0:1.0	.	750	Q8NEC5	CTSR1_HUMAN	A	750	ENSP00000309052:E750A	ENSP00000309052:E750A	E	-	2	0	CATSPER1	65541174	1.000000	0.71417	0.888000	0.34837	0.286000	0.27126	4.556000	0.60775	2.048000	0.60808	0.524000	0.50904	GAG	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391055.1		-	ENST00000312106.5	Missense_Mutation	SNP	11 : 65784598 - 65784598 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	189	17
ZNF296	162979	broad.mit.edu	37	19	45575632	45575632	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45575632G>A	ENST00000303809.2	-	3	869	c.655C>T	c.(655-657)Ccc>Tcc	p.P219S		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	219					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						CTTGCACGGGGGCTCTTGGCC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	27	26			NA	NA	19		NA											NA				45575632		2177	4249	6426	SO:0001583	missense			BC019352	CCDS12653.1	19q13.32	2013-01-08	2008-06-24	2008-06-24		ENSG00000170684	162979	162979		Zinc fingers, C2H2-type	15981	protein-coding gene	gene with protein product		613226	zinc finger protein 342	ZNF342	NA	11063263, 14633674	Standard	NM_145288	NM_145288	NA	Approved		uc002pao.3	Q8WUU4		ENST00000303809.2:c.655C>T	19.37:g.45575632G>A	ENSP00000302770:p.Pro219Ser	NA		37	CCDS12653.1	.	.	.	.	.	.	.	.	.	.	G	2.367	-0.345298	0.05208	.	.	ENSG00000170684	ENST00000303809;ENST00000545481	T	0.05580	3.42	5.51	-8.85	0.00799	.	1.219780	0.05723	N	0.598054	T	0.03053	0.0090	N	0.19112	0.55	0.09310	N	1	B	0.16166	0.016	B	0.15870	0.014	T	0.42172	-0.9467	10	0.45353	T	0.12	-2.9278	1.5955	0.02663	0.436:0.1057:0.2429:0.2154	.	219	Q8WUU4	ZN296_HUMAN	S	219;195	ENSP00000302770:P219S	ENSP00000302770:P219S	P	-	1	0	ZNF296	50267472	0.926000	0.31397	0.000000	0.03702	0.154000	0.21943	2.041000	0.41213	-1.687000	0.01437	0.650000	0.86243	CCC	ZNF296-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457529.1		-	ENST00000303809.2	Missense_Mutation	SNP	19 : 45575632 - 45575632 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	459	112
BRWD3	254065	broad.mit.edu	37	X	79979292	79979292	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79979292T>C	ENST00000373275.4	-	16	1821	c.1605A>G	c.(1603-1605)ggA>ggG	p.G535G		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	535										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GCAGCAAATGTCCATGAGAAT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	83	86			NA	NA	X		NA											NA				79979292		2203	4300	6503	SO:0001819	synonymous_variant				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288	254065	254065		WD repeat domain containing	17342	protein-coding gene	gene with protein product		300553			NA	15543602, 16094372	Standard	NM_153252	NM_153252	NA	Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1605A>G	X.37:g.79979292T>C		NA	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	37	CCDS14447.1																																																																																			BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057344.1		-	ENST00000373275.4	Silent	SNP	X : 79979292 - 79979292 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	205	69
ACACB	32	broad.mit.edu	37	12	109629664	109629664	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109629664G>A	ENST00000338432.7	+	15	2427	c.2308G>A	c.(2308-2310)Gat>Aat	p.D770N	ACACB_ENST00000377848.3_Missense_Mutation_p.D770N|ACACB_ENST00000377854.5_Missense_Mutation_p.D770N			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	770					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GGAGAAACCGGATATCATGCT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	100	104			NA	NA	12		NA											NA				109629664		2203	4300	6503	SO:0001583	missense			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	32	32	6.4.1.2		85	protein-coding gene	gene with protein product	acetyl-CoA carboxylase 2	601557	acetyl-Coenzyme A carboxylase beta		NA	8670171	Standard	NM_001093	NM_001093	NA	Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2308G>A	12.37:g.109629664G>A	ENSP00000341044:p.Asp770Asn	NA	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267133	0.80469	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	D;D;D	0.96232	-3.95;-3.95;-3.91	5.41	5.41	0.78517	.	0.099394	0.64402	D	0.000003	D	0.95778	0.8626	M	0.71920	2.185	0.80722	D	1	B	0.22851	0.076	B	0.26614	0.071	D	0.93811	0.7110	10	0.56958	D	0.05	.	18.244	0.89978	0.0:0.0:1.0:0.0	.	770	O00763	ACACB_HUMAN	N	770	ENSP00000341044:D770N;ENSP00000367079:D770N;ENSP00000367085:D770N	ENSP00000341044:D770N	D	+	1	0	ACACB	108114047	1.000000	0.71417	0.793000	0.32043	0.955000	0.61496	6.823000	0.75282	2.549000	0.85964	0.650000	0.86243	GAT	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403077.1		+	ENST00000338432.7	Missense_Mutation	SNP	12 : 109629664 - 109629664 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	309	55
ATXN7	6314	broad.mit.edu	37	3	63981756	63981756	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:63981756C>T	ENST00000295900.6	+	12	2808	c.2258C>T	c.(2257-2259)tCc>tTc	p.S753F	ATXN7_ENST00000484332.1_Missense_Mutation_p.S608F|ATXN7_ENST00000487717.1_Missense_Mutation_p.S753F|ATXN7_ENST00000538065.1_Missense_Mutation_p.S753F|ATXN7_ENST00000398590.3_Missense_Mutation_p.S753F	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	753	Ser-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		GTAACATCTTCCCATAGCATC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	74	73			NA	NA	3		NA											NA				63981756		2026	4199	6225	SO:0001583	missense			AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635	6314	6314		Ataxins	10560	protein-coding gene	gene with protein product		607640	spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)	SCA7	NA	7647798, 10598805	Standard	NM_000333	NM_000333	NA	Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.2258C>T	3.37:g.63981756C>T	ENSP00000295900:p.Ser753Phe	NA	O75328|O75329|Q9Y6P8	37	CCDS43102.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043594	0.75732	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065;ENST00000484332	T;T;T;T;T	0.18960	2.18;2.22;2.22;2.18;2.2	4.78	4.78	0.61160	.	0.408743	0.27631	N	0.018516	T	0.32406	0.0828	L	0.53249	1.67	0.58432	D	0.99999	P;P;P	0.50617	0.8;0.937;0.895	B;P;B	0.49999	0.424;0.628;0.424	T	0.03259	-1.1055	10	0.40728	T	0.16	-1.2999	18.2362	0.89950	0.0:1.0:0.0:0.0	.	608;753;753	E9PHP9;O15265-2;O15265	.;.;ATX7_HUMAN	F	753;753;753;753;608	ENSP00000381590:S753F;ENSP00000295900:S753F;ENSP00000420234:S753F;ENSP00000439585:S753F;ENSP00000428277:S608F	ENSP00000295900:S753F	S	+	2	0	ATXN7	63956796	1.000000	0.71417	0.973000	0.42090	0.839000	0.47603	7.191000	0.77763	2.383000	0.81215	0.650000	0.86243	TCC	ATXN7-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352070.1		+	ENST00000295900.6	Missense_Mutation	SNP	3 : 63981756 - 63981756 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	438	15
UBR4	23352	broad.mit.edu	37	1	19470518	19470518	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19470518C>T	ENST00000375254.3	-	55	8162	c.8135G>A	c.(8134-8136)aGa>aAa	p.R2712K	UBR4_ENST00000375217.2_Missense_Mutation_p.R2740K|UBR4_ENST00000375226.2_Missense_Mutation_p.R2723K|UBR4_ENST00000375267.2_Missense_Mutation_p.R2712K	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2712					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGTCACATGTCTCCGTTTGTT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													250	216	228			NA	NA	1		NA											NA				19470518		2203	4300	6503	SO:0001583	missense			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481	23352	23352		Ubiquitin protein ligase E3 component n-recognins	30313	protein-coding gene	gene with protein product		609890	zinc finger, UBR1 type 1	ZUBR1	NA	14702039, 10718198, 16055722	Standard	NM_020765	XM_005245802	NA	Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.8135G>A	1.37:g.19470518C>T	ENSP00000364403:p.Arg2712Lys	NA	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	33	5.256004	0.95336	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.59224	1.39;1.38;0.28;1.31	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.69450	0.3112	L	0.49126	1.545	0.80722	D	1	P	0.44690	0.841	P	0.57204	0.815	T	0.67503	-0.5654	10	0.49607	T	0.09	.	19.328	0.94270	0.0:1.0:0.0:0.0	.	2712	Q5T4S7	UBR4_HUMAN	K	2712;2712;2740;2723;355;1433	ENSP00000364403:R2712K;ENSP00000364416:R2712K;ENSP00000364365:R2740K;ENSP00000364374:R2723K	ENSP00000364365:R2740K	R	-	2	0	UBR4	19343105	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.285000	0.78660	2.798000	0.96311	0.655000	0.94253	AGA	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007085.1		-	ENST00000375254.3	Missense_Mutation	SNP	1 : 19470518 - 19470518 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	681	74
PAPOLA	10914	broad.mit.edu	37	14	97029194	97029194	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:97029194A>C	ENST00000392990.2	+	20	2078	c.2043A>C	c.(2041-2043)gaA>gaC	p.E681D	PAPOLA_ENST00000216277.8_Missense_Mutation_p.E702D			P51003	PAPOA_HUMAN	poly(A) polymerase alpha	702	Required for interaction with NUDT21.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		CTCAATCAGAAACTATTCAGA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(19;254 734 11908 35501 39234)							NA				0													129	132	131			NA	NA	14		NA											NA				97029194		2203	4300	6503	SO:0001583	missense			X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	10914	10914	2.7.7.19		14981	protein-coding gene	gene with protein product		605553			NA	8302877, 10429366	Standard		NM_032632	NA	Approved	PAP	uc001yfq.3	P51003		ENST00000392990.2:c.2043A>C	14.37:g.97029194A>C	ENSP00000376716:p.Glu681Asp	NA	Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	37		.	.	.	.	.	.	.	.	.	.	A	13.58	2.279488	0.40294	.	.	ENSG00000090060	ENST00000216277;ENST00000546064;ENST00000392990;ENST00000555626	.	.	.	5.93	2.27	0.28462	.	0.324591	0.29410	N	0.012234	T	0.23846	0.0577	N	0.14661	0.345	0.34784	D	0.73503	B;B;B	0.23316	0.004;0.002;0.083	B;B;B	0.17098	0.004;0.002;0.017	T	0.15752	-1.0426	9	0.18710	T	0.47	.	5.4407	0.16507	0.6994:0.1476:0.153:0.0	.	697;718;702	F5H5I8;B4DYF4;P51003	.;.;PAPOA_HUMAN	D	702;697;681;452	.	ENSP00000216277:E702D	E	+	3	2	PAPOLA	96098947	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	1.002000	0.29796	0.145000	0.18977	0.482000	0.46254	GAA	PAPOLA-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000413479.1		+	ENST00000392990.2	Missense_Mutation	SNP	14 : 97029194 - 97029194 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	847	178
PCDHA2	56146	broad.mit.edu	37	5	140175956	140175956	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140175956G>A	ENST00000520672.2	+	1	1513	c.1407G>A	c.(1405-1407)ccG>ccA	p.P469P	PCDHA2_ENST00000378132.1_Silent_p.P469P|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Silent_p.P469P	NM_031496.1	NP_113684.1			protocadherin alpha 2	NA										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACAACCCGCCGGGCTGCC	0.667		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	5		NA											NA				140175956		2203	4300	6503	SO:0001819	synonymous_variant			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969	56146	56146		Cadherins / Protocadherins : Clustered	8668	other	complex locus constituent	KIAA0345-like 12	606308			NA	10380929	Standard	NM_018905	NM_018905	NA	Approved			Q9Y5H9		ENST00000520672.2:c.1407G>A	5.37:g.140175956G>A		NA		37																																																																																				PCDHA2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000374265.2		+	ENST00000520672.2	Silent	SNP	5 : 140175956 - 140175956 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	742	151
DPEP1	1800	broad.mit.edu	37	16	89703612	89703612	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89703612C>T	ENST00000393092.3	+	7	883	c.592C>T	c.(592-594)Cgt>Tgt	p.R198C	DPEP1_ENST00000421184.1_Splice_Site_p.R198C|DPEP1_ENST00000261615.4_Splice_Site_p.R198C	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	198					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	GTCTTCCCAGCGTGTGGTGAA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	64	63			NA	NA	16		NA											NA				89703612		2194	4292	6486	SO:0001630	splice_region_variant				CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	1800	1800	3.4.13.19		3002	protein-coding gene	gene with protein product		179780			NA		Standard	NM_001128141	NM_004413	NA	Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.592-1C>T	16.37:g.89703612C>T		NA	D3DX80|Q96AK2	37	CCDS10982.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447057	0.84101	.	.	ENSG00000015413	ENST00000421184;ENST00000393092;ENST00000261615	T;T;T	0.24723	1.84;1.84;1.84	5.14	-4.67	0.03319	.	0.985709	0.08297	N	0.967567	T	0.40398	0.1115	M	0.74881	2.28	0.32834	D	0.504453	D	0.89917	1.0	D	0.68039	0.955	T	0.56884	-0.7905	9	.	.	.	-5.7528	4.4237	0.11493	0.3622:0.413:0.1444:0.0804	.	198	P16444	DPEP1_HUMAN	C	198	ENSP00000397313:R198C;ENSP00000376807:R198C;ENSP00000261615:R198C	.	R	+	1	0	DPEP1	88231113	0.000000	0.05858	0.002000	0.10522	0.894000	0.52154	-1.050000	0.03510	-0.492000	0.06687	0.436000	0.28706	CGT	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000423058.1	Missense_Mutation	+	ENST00000393092.3	Splice_Site	SNP	16 : 89703612 - 89703612 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	411	15
SRP54	6729	broad.mit.edu	37	14	35483956	35483956	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35483956G>A	ENST00000556994.1	+	12	1290	c.893G>A	c.(892-894)gGc>gAc	p.G298D	SRP54_ENST00000546080.1_Missense_Mutation_p.G249D|SRP54_ENST00000555557.1_Missense_Mutation_p.G234D|SRP54_ENST00000216774.6_Missense_Mutation_p.G298D			P61011	SRP54_HUMAN	signal recognition particle 54kDa	298	M-domain.				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		ATAGGTATGGGCGACATTGAA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	130	130			NA	NA	14		NA											NA				35483956		2203	4299	6502	SO:0001583	missense			X86373	CCDS9652.1, CCDS53893.1	14q13.2	2014-06-02	2002-08-29		ENSG00000100883	ENSG00000100883	6729	6729			11301	protein-coding gene	gene with protein product		604857	signal recognition particle 54kD		NA	8722571	Standard	NM_003136	NM_003136	NA	Approved		uc001wso.3	P61011	OTTHUMG00000140214	ENST00000556994.1:c.893G>A	14.37:g.35483956G>A	ENSP00000451818:p.Gly298Asp	NA	B2R759|P13624	37	CCDS9652.1	.	.	.	.	.	.	.	.	.	.	G	32	5.181701	0.94885	.	.	ENSG00000100883	ENST00000556994;ENST00000216774;ENST00000546080;ENST00000555557	.	.	.	5.85	5.85	0.93711	Signal recognition particle, SRP54 subunit, M-domain (1);	0.000000	0.85682	D	0.000000	D	0.89739	0.6802	H	0.95079	3.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91923	0.5549	9	0.87932	D	0	-6.511	20.1606	0.98132	0.0:0.0:1.0:0.0	.	249;298	B4DUW6;P61011	.;SRP54_HUMAN	D	298;298;249;234	.	ENSP00000216774:G298D	G	+	2	0	SRP54	34553707	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.382000	0.97209	2.772000	0.95346	0.650000	0.86243	GGC	SRP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276643.2		+	ENST00000556994.1	Missense_Mutation	SNP	14 : 35483956 - 35483956 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	514	85
PTPRU	10076	broad.mit.edu	37	1	29638197	29638197	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29638197G>A	ENST00000373779.3	+	21	3127	c.2998G>A	c.(2998-3000)Ggg>Agg	p.G1000R	PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000323874.8_Missense_Mutation_p.G1006R|PTPRU_ENST00000428026.2_Missense_Mutation_p.G997R|PTPRU_ENST00000356870.3_Missense_Mutation_p.G1006R|PTPRU_ENST00000460170.2_Missense_Mutation_p.G1006R|PTPRU_ENST00000345512.3_Missense_Mutation_p.G1010R	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1010	Tyrosine-protein phosphatase 1.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	p.G1006W(2)|p.G1010W(1)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		AGACACCTACGGGGACATCAA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				3	Substitution - Missense(3)	lung(3)											130	115	120			NA	NA	1		NA											NA				29638197		2203	4300	6503	SO:0001583	missense			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656	10076	10076		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing	9683	protein-coding gene	gene with protein product	pi R-PTP-Psi	602454			NA	8700514, 9434160	Standard		NM_133178	NA	Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000373779.3:c.2998G>A	1.37:g.29638197G>A	ENSP00000362884:p.Gly1000Arg	NA	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	37	CCDS335.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.841584	0.91197	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	4.67	4.67	0.58626	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.70237	0.3201	M	0.89353	3.025	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.76181	-0.3053	9	.	.	.	.	17.1105	0.86673	0.0:0.0:1.0:0.0	.	997;1006;1000;1006;1010	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	R	1010;1000;1006;1006;997;1006	ENSP00000334941:G1010R;ENSP00000362884:G1000R;ENSP00000349333:G1006R;ENSP00000314987:G1006R;ENSP00000392332:G997R;ENSP00000432906:G1006R	.	G	+	1	0	PTPRU	29510784	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.652000	0.98499	2.592000	0.87571	0.591000	0.81541	GGG	PTPRU-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000010445.2		+	ENST00000373779.3	Missense_Mutation	SNP	1 : 29638197 - 29638197 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	753	142
GAS8	2622	broad.mit.edu	37	16	90109727	90109727	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90109727G>A	ENST00000268699.4	+	11	1533	c.1411G>A	c.(1411-1413)Gcg>Acg	p.A471T	GAS8_ENST00000536122.1_Missense_Mutation_p.A446T|URAHP_ENST00000517889.1_RNA	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	471					negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		CCAGGGCCCCGCGGGACTGGT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	43	43			NA	NA	16		NA											NA				90109727		2198	4300	6498	SO:0001583	missense			AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013	2622	2622			4166	protein-coding gene	gene with protein product		605178	growth arrest-specific 11	GAS11	NA	9790751	Standard		NM_001481	NA	Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.1411G>A	16.37:g.90109727G>A	ENSP00000268699:p.Ala471Thr	NA	B2RCT1|Q2M234	37	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169634	0.57584	.	.	ENSG00000141013	ENST00000536122;ENST00000268699	T;T	0.51071	0.83;0.72	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.54029	0.1833	M	0.71296	2.17	0.80722	D	1	D	0.63880	0.993	P	0.45377	0.478	T	0.57923	-0.7727	9	.	.	.	-31.3668	18.2512	0.90004	0.0:0.0:1.0:0.0	.	471	O95995	GAS8_HUMAN	T	446;471	ENSP00000440977:A446T;ENSP00000268699:A471T	.	A	+	1	0	GAS8	88637228	1.000000	0.71417	0.815000	0.32552	0.046000	0.14306	8.551000	0.90678	2.688000	0.91661	0.557000	0.71058	GCG	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000272877.2		+	ENST00000268699.4	Missense_Mutation	SNP	16 : 90109727 - 90109727 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	417	119
ZFAT	57623	broad.mit.edu	37	8	135615146	135615146	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:135615146A>C	ENST00000520727.1	-	7	1079	c.780T>G	c.(778-780)acT>acG	p.T260T	ZFAT_ENST00000377838.3_Silent_p.T272T|ZFAT_ENST00000429442.2_Silent_p.T260T|ZFAT_ENST00000520356.1_Silent_p.T260T|ZFAT_ENST00000520214.1_Silent_p.T260T|ZFAT_ENST00000523399.1_Silent_p.T210T	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AGTATTCACAAGTGAAGATTT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	97	97			NA	NA	8		NA											NA				135615146		1983	4163	6146	SO:0001819	synonymous_variant			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827	57623	57623		Zinc fingers, C2H2-type	19899	protein-coding gene	gene with protein product		610931	zinc finger protein 406	ZNF406, ZFAT1	NA	10819331, 18329245	Standard	NM_001029939	NM_020863	NA	Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000520727.1:c.780T>G	8.37:g.135615146A>C		NA	Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	37	CCDS43768.2																																																																																			ZFAT-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378270.1		-	ENST00000520727.1	Silent	SNP	8 : 135615146 - 135615146 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	472	93
API5	8539	broad.mit.edu	37	11	43342961	43342961	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43342961A>C	ENST00000378852.3	+	4	451	c.326A>C	c.(325-327)gAt>gCt	p.D109A	API5_ENST00000531273.1_Splice_Site_p.D109A|API5_ENST00000420461.2_Splice_Site_p.D55A|API5_ENST00000534600.1_Splice_Site_p.D109A|API5_ENST00000455725.2_Splice_Site_p.D98A|API5_ENST00000534695.1_Intron	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	109					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						CTTTATCCAGATGACTCTGCA	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(1;98 122 5625 20895 49453)							NA				0													58	60	59			NA	NA	11		NA											NA				43342961		2203	4295	6498	SO:0001630	splice_region_variant			U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181	8539	8539			594	protein-coding gene	gene with protein product	API5-like 1, fibroblast growth factor 2-interacting factor 2, migration-inducing protein MIG8	609774			NA	9307294	Standard	NM_006595	NR_024625	NA	Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000378852.3:c.326-1A>C	11.37:g.43342961A>C		NA	D3DR21|O15441|Q9Y4J7	37	CCDS31465.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.779208	0.90195	.	.	ENSG00000166181	ENST00000455725;ENST00000531273;ENST00000420461;ENST00000378852;ENST00000534600	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	5.86	5.86	0.93980	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.41949	0.1181	M	0.65975	2.015	0.80722	D	1	B;P;D;P	0.58620	0.117;0.896;0.983;0.873	B;P;P;B	0.60415	0.112;0.519;0.874;0.298	T	0.14699	-1.0463	9	.	.	.	.	15.989	0.80188	1.0:0.0:0.0:0.0	.	55;109;98;109	B4DGR0;Q9BZZ5;B4E283;Q9BZZ5-2	.;API5_HUMAN;.;.	A	98;109;55;109;109	ENSP00000399341:D98A;ENSP00000431391:D109A;ENSP00000402540:D55A;ENSP00000368129:D109A;ENSP00000434462:D109A	.	D	+	2	0	API5	43299537	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.489000	0.81451	2.261000	0.74972	0.529000	0.55759	GAT	API5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389547.1	Missense_Mutation	+	ENST00000378852.3	Splice_Site	SNP	11 : 43342961 - 43342961 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	282	49
PELI3	246330	broad.mit.edu	37	11	66243552	66243552	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66243552T>C	ENST00000349459.6	+	7	1536	c.1252T>C	c.(1252-1254)Ttc>Ctc	p.F418L	CTD-3074O7.5_ENST00000533502.1_RNA|CTD-3074O7.5_ENST00000527092.1_RNA|PELI3_ENST00000320740.7_Missense_Mutation_p.F442L	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	442						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						CACCCATGCTTTCCATGCCGC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	15	15			NA	NA	11		NA											NA				66243552		2186	4250	6436	SO:0001583	missense			AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516	246330	246330		Pellino homologs	30010	protein-coding gene	gene with protein product		609827	pellino homolog 3 (Drosophila)		NA	12874243, 15917247	Standard	NM_145065	NM_145065	NA	Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000349459.6:c.1252T>C	11.37:g.66243552T>C	ENSP00000309848:p.Phe418Leu	NA	Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	37	CCDS41675.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.430539	0.83776	.	.	ENSG00000174516	ENST00000349459;ENST00000320740	T;T	0.50001	0.76;0.76	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.66046	0.2750	M	0.74389	2.26	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.72338	0.946;0.977	T	0.69661	-0.5085	10	0.62326	D	0.03	-24.7935	11.9441	0.52918	0.0:0.0:0.0:1.0	.	418;442	Q8N2H9-2;Q8N2H9	.;PELI3_HUMAN	L	418;442	ENSP00000309848:F418L;ENSP00000322532:F442L	ENSP00000322532:F442L	F	+	1	0	PELI3	66000128	1.000000	0.71417	0.999000	0.59377	0.768000	0.43524	7.712000	0.84684	1.919000	0.55581	0.533000	0.62120	TTC	PELI3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393225.1		+	ENST00000349459.6	Missense_Mutation	SNP	11 : 66243552 - 66243552 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	103	21
LRRC14	9684	broad.mit.edu	37	8	145746029	145746029	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145746029G>A	ENST00000292524.1	+	3	883	c.737G>A	c.(736-738)cGc>cAc	p.R246H	LRRC14_ENST00000529022.1_Missense_Mutation_p.R246H	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	246										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CACGTGGCCCGCTTCCAGCAC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	50	49			NA	NA	8		NA											NA				145746029		2203	4299	6502	SO:0001583	missense			BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959	9684	9684			20419	protein-coding gene	gene with protein product					NA	7584026	Standard	NM_014665	NM_001272036	NA	Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.737G>A	8.37:g.145746029G>A	ENSP00000292524:p.Arg246His	NA	A8K0A8|D3DWM8	37	CCDS6432.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.251063	0.39797	.	.	ENSG00000160959	ENST00000527730;ENST00000529022;ENST00000292524	T;T;T	0.54071	0.59;0.59;0.59	4.08	3.1	0.35709	.	0.816864	0.11252	N	0.583542	T	0.36468	0.0968	L	0.36672	1.1	0.26091	N	0.980956	P	0.42078	0.77	B	0.36885	0.235	T	0.19516	-1.0303	10	0.39692	T	0.17	.	4.7619	0.13111	0.2552:0.0:0.7448:0.0	.	246	Q15048	LRC14_HUMAN	H	246	ENSP00000436452:R246H;ENSP00000434768:R246H;ENSP00000292524:R246H	ENSP00000292524:R246H	R	+	2	0	LRRC14	145716837	0.050000	0.20438	0.545000	0.28153	0.802000	0.45316	2.394000	0.44450	2.097000	0.63578	0.462000	0.41574	CGC	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382494.1		+	ENST00000292524.1	Missense_Mutation	SNP	8 : 145746029 - 145746029 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	488	80
RPP38	10557	broad.mit.edu	37	10	15145661	15145661	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15145661C>T	ENST00000378197.4	+	3	862	c.348C>T	c.(346-348)ggC>ggT	p.G116G	RPP38_ENST00000451677.1_Intron|RPP38_ENST00000378202.5_Silent_p.G116G|NMT2_ENST00000466201.1_5'UTR	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN	ribonuclease P/MRP 38kDa subunit	116					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						TTGCCATTGGCGTTAACGAAG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(118;1591 1611 9649 34378 50720)							NA				0													79	76	77			NA	NA	10		NA											NA				15145661		2203	4300	6503	SO:0001819	synonymous_variant			U77664	CCDS7108.1	10p13	2012-05-21			ENSG00000152464	ENSG00000152464	10557	10557			30329	protein-coding gene	gene with protein product		606116			NA	9037013, 9630247	Standard	NM_006414	NM_183005	NA	Approved		uc001inx.5	P78345	OTTHUMG00000017728	ENST00000378197.4:c.348C>T	10.37:g.15145661C>T		NA	B3KPY0|D3DRT8|Q53F71|Q8NHS8	37	CCDS7108.1	.	.	.	.	.	.	.	.	.	.	C	5.111	0.206024	0.09704	.	.	ENSG00000152465	ENST00000441445	.	.	.	5.67	-10.1	0.00402	.	.	.	.	.	T	0.37972	0.1023	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50030	-0.8875	5	0.34782	T	0.22	-24.5283	2.9592	0.05887	0.1391:0.1061:0.2789:0.4759	.	.	.	.	T	64	.	ENSP00000408127:A64T	A	-	1	0	NMT2	15185667	0.001000	0.12720	0.000000	0.03702	0.630000	0.37929	-1.467000	0.02352	-1.940000	0.01043	-0.932000	0.02703	GCC	RPP38-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046976.1		+	ENST00000378197.4	Silent	SNP	10 : 15145661 - 15145661 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	65
LCN9	392399	broad.mit.edu	37	9	138557549	138557549	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138557549C>T	ENST00000277526.3	+	5	426	c.426C>T	c.(424-426)tgC>tgT	p.C142C	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	142						extracellular region	pheromone binding|transporter activity			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		AAGAAACCTGCGAAAAGTACG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	44	44			NA	NA	9		NA											NA				138557549		1925	4121	6046	SO:0001819	synonymous_variant			AY301270	CCDS56593.1	9q34	2011-11-14			ENSG00000148386	ENSG00000148386	392399	392399		Lipocalins	17442	protein-coding gene	gene with protein product	MUP-like lipocalin, epididymal-specific lipocalin-9	612903			NA	15363845	Standard	NM_001001676	NM_001001676	NA	Approved		uc004cgk.2	Q8WX39	OTTHUMG00000020916	ENST00000277526.3:c.426C>T	9.37:g.138557549C>T		NA	C9J5F0|Q6JVE7	37	CCDS56593.1																																																																																			LCN9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410711.1		+	ENST00000277526.3	Silent	SNP	9 : 138557549 - 138557549 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	111	20
TMEM196	256130	broad.mit.edu	37	7	19765216	19765216	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:19765216C>T	ENST00000405844.1	-	3	1075	c.380G>A	c.(379-381)cGa>cAa	p.R127Q	TMEM196_ENST00000422233.1_Missense_Mutation_p.R59Q|TMEM196_ENST00000493519.1_Missense_Mutation_p.R59Q|TMEM196_ENST00000433641.1_Missense_Mutation_p.R59Q|TMEM196_ENST00000405764.3_Missense_Mutation_p.R127Q			Q5HYL7	TM196_HUMAN	transmembrane protein 196	133						integral to membrane				breast(1)|large_intestine(1)|lung(4)	6						ACTGGCTAGTCGACAAGTGAG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	75	79			NA	NA	7		NA											NA				19765216		2203	4300	6503	SO:0001583	missense				CCDS34607.2	7p15.3	2007-11-21			ENSG00000173452	ENSG00000173452	256130	256130			22431	protein-coding gene	gene with protein product					NA		Standard	NM_152774	NM_152774	NA	Approved	MGC42090	uc011jyg.2	Q5HYL7	OTTHUMG00000152504	ENST00000405844.1:c.380G>A	7.37:g.19765216C>T	ENSP00000385087:p.Arg127Gln	NA	Q8N6I6	37		.	.	.	.	.	.	.	.	.	.	C	29.2	4.983704	0.93044	.	.	ENSG00000173452	ENST00000405844;ENST00000405764;ENST00000422233;ENST00000433641;ENST00000493519	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.68238	0.2979	L	0.32530	0.975	0.80722	D	1	D	0.69078	0.997	D	0.66847	0.947	T	0.70506	-0.4853	9	0.87932	D	0	13.2727	19.794	0.96471	0.0:1.0:0.0:0.0	.	127	Q5HYL7-4	.	Q	127;127;59;59;59	.	ENSP00000384234:R127Q	R	-	2	0	TMEM196	19731741	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.433000	0.80362	2.678000	0.91216	0.655000	0.94253	CGA	TMEM196-003	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000326539.1		-	ENST00000405844.1	Missense_Mutation	SNP	7 : 19765216 - 19765216 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	362	143
DDX46	9879	broad.mit.edu	37	5	134154631	134154631	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134154631A>G	ENST00000452510.2	+	21	3072	c.2914A>G	c.(2914-2916)Acc>Gcc	p.T972A	DDX46_ENST00000354283.4_Missense_Mutation_p.T971A	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	971					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AATCAGAGGAACCTACTTCCC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(13;391 453 4901 21675 24897)							NA				0													98	96	96			NA	NA	5		NA											NA				134154631		2203	4300	6503	SO:0001583	missense				CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833	9879	9879		DEAD-boxes	18681	protein-coding gene	gene with protein product					NA		Standard	NM_014829	XM_005272142	NA	Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000452510.2:c.2914A>G	5.37:g.134154631A>G	ENSP00000416534:p.Thr972Ala	NA	O94894|Q96EI0|Q9Y658	37		.	.	.	.	.	.	.	.	.	.	A	18.86	3.714081	0.68730	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	T;T	0.26660	1.72;1.72	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.35998	0.0951	M	0.72353	2.195	0.80722	D	1	P	0.39044	0.656	B	0.41466	0.358	T	0.21348	-1.0248	10	0.62326	D	0.03	-14.7115	15.9781	0.80086	1.0:0.0:0.0:0.0	.	971	Q7L014	DDX46_HUMAN	A	972;971	ENSP00000416534:T972A;ENSP00000346236:T971A	ENSP00000346236:T971A	T	+	1	0	DDX46	134182530	1.000000	0.71417	0.984000	0.44739	0.973000	0.67179	7.264000	0.78432	2.171000	0.68590	0.533000	0.62120	ACC	DDX46-001	KNOWN	non_canonical_conserved|basic	protein_coding	NA	protein_coding	OTTHUMT00000371583.1		+	ENST00000452510.2	Missense_Mutation	SNP	5 : 134154631 - 134154631 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	73
WDR70	55100	broad.mit.edu	37	5	37479970	37479970	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37479970G>T	ENST00000504564.1	+	8	804	c.721G>T	c.(721-723)Gga>Tga	p.G241*	WDR70_ENST00000510699.1_3'UTR|WDR70_ENST00000265107.4_Nonsense_Mutation_p.G241*			Q9NW82	WDR70_HUMAN	WD repeat domain 70	241										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAGTAACACAGGAGACATGAT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													231	215	221			NA	NA	5		NA											NA				37479970		2203	4300	6503	SO:0001587	stop_gained			BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068	55100	55100		WD repeat domain containing	25495	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_018034	NM_018034	NA	Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000504564.1:c.721G>T	5.37:g.37479970G>T	ENSP00000425841:p.Gly241*	NA	Q9H053	37		.	.	.	.	.	.	.	.	.	.	G	40	8.390321	0.98791	.	.	ENSG00000082068	ENST00000265107;ENST00000504564	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.2527	19.5183	0.95174	0.0:0.0:1.0:0.0	.	.	.	.	X	241	.	ENSP00000265107:G241X	G	+	1	0	WDR70	37515727	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.270000	0.95690	2.633000	0.89246	0.655000	0.94253	GGA	WDR70-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000368295.1		+	ENST00000504564.1	Nonsense_Mutation	SNP	5 : 37479970 - 37479970 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	655	139
HIST1H1E	3008	broad.mit.edu	37	6	26157183	26157183	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26157183G>A	ENST00000304218.3	+	1	625	c.565G>A	c.(565-567)Gcg>Acg	p.A189T		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	189					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CAAGAGCCCAGCGAAGGCCAA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA	0,4402		0,0,2201	27	28	27		565	5.5	0.9	6		27	1,8595		0,1,4297	no	missense	HIST1H1E	NM_005321.2	58	0,1,6498	AA,AG,GG	NA	0.0116,0.0,0.0077	possibly-damaging	189/220	26157183	1,12997	2201	4298	6499	SO:0001583	missense			M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298	3008	3008		Histones / Replication-dependent	4718	protein-coding gene	gene with protein product		142220	H1 histone family, member 4, histone 1, H1e	H1F4	NA	1916825, 12408966	Standard	NM_005321	NM_005321	NA	Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.565G>A	6.37:g.26157183G>A	ENSP00000307705:p.Ala189Thr	NA	Q4VB25	37	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	18.60	3.658789	0.67586	0.0	1.16E-4	ENSG00000168298	ENST00000304218	T	0.23147	1.92	5.48	5.48	0.80851	.	0.281102	0.33217	N	0.005152	T	0.25754	0.0627	M	0.69523	2.12	0.43230	D	0.995122	P	0.51057	0.941	B	0.43889	0.435	T	0.06041	-1.0849	10	0.51188	T	0.08	-4.8345	18.6997	0.91615	0.0:0.0:1.0:0.0	.	189	P10412	H14_HUMAN	T	189	ENSP00000307705:A189T	ENSP00000307705:A189T	A	+	1	0	HIST1H1E	26265162	1.000000	0.71417	0.916000	0.36221	0.999000	0.98932	4.418000	0.59828	2.717000	0.92951	0.655000	0.94253	GCG	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040084.1		+	ENST00000304218.3	Missense_Mutation	SNP	6 : 26157183 - 26157183 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	194	30
PDZRN3	23024	broad.mit.edu	37	3	73433199	73433199	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:73433199G>A	ENST00000479530.1	-	8	1865	c.1669C>T	c.(1669-1671)Cgg>Tgg	p.R557W	PDZRN3_ENST00000462146.2_Missense_Mutation_p.R497W|PDZRN3_ENST00000263666.4_Missense_Mutation_p.R840W|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R562W|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R497W			Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	840							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTGGCTCTCCGCTCTTTGCTT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	45	43			NA	NA	3		NA											NA				73433199		2201	4300	6501	SO:0001583	missense			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440	23024	23024		RING-type (C3HC4) zinc fingers	17704	protein-coding gene	gene with protein product	likely ortholog of mouse semaF cytoplasmic domain associated protein 3	609729			NA	10470851	Standard	XM_041363	XM_005264718	NA	Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000479530.1:c.1669C>T	3.37:g.73433199G>A	ENSP00000418624:p.Arg557Trp	NA	A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	37		.	.	.	.	.	.	.	.	.	.	G	7.632	0.679032	0.14841	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	T;T;T;T;T	0.11495	2.77;3.48;3.38;3.38;3.49	5.16	-1.19	0.09585	.	3.246850	0.00914	N	0.002509	T	0.31857	0.0810	M	0.70595	2.14	0.20074	N	0.999931	D;D;D;D	0.89917	0.993;0.999;0.995;1.0	P;P;P;D	0.66084	0.84;0.708;0.462;0.941	T	0.38001	-0.9681	10	0.87932	D	0	.	10.5668	0.45177	0.0:0.0834:0.333:0.5836	.	562;557;557;840	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	W	840;562;497;497;557	ENSP00000263666:R840W;ENSP00000442026:R562W;ENSP00000418168:R497W;ENSP00000418484:R497W;ENSP00000418624:R557W	ENSP00000263666:R840W	R	-	1	2	PDZRN3	73515889	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.037000	0.13840	-0.126000	0.11682	-0.175000	0.13238	CGG	PDZRN3-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000352465.1		-	ENST00000479530.1	Missense_Mutation	SNP	3 : 73433199 - 73433199 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	533	106
CAPRIN2	65981	broad.mit.edu	37	12	30863426	30863426	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:30863426G>A	ENST00000395805.2	-	17	3217	c.2670C>T	c.(2668-2670)aaC>aaT	p.N890N	CAPRIN2_ENST00000251071.5_Intron|CAPRIN2_ENST00000308433.5_Intron|CAPRIN2_ENST00000298892.5_Intron|CAPRIN2_ENST00000417045.1_Silent_p.N945N	NM_001206856.1	NP_001193785.1	Q6IMN6	CAPR2_HUMAN	caprin family member 2	0					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GCAACAGTGAGTTTCTCATAA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	61	59			NA	NA	12		NA											NA				30863426		2187	4292	6479	SO:0001819	synonymous_variant			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888	65981	65981			21259	protein-coding gene	gene with protein product		610375	C1q domain containing 1	C1QDC1	NA	11347906, 14764709	Standard	NM_023925	NM_001002259	NA	Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.2670C>T	12.37:g.30863426G>A		NA	Q149P7|Q6IMN5|Q7Z371|Q8TE70|Q8TE71|Q96RN6|Q9H667|Q9HAL4	37	CCDS55816.1																																																																																			CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403322.2		-	ENST00000395805.2	Silent	SNP	12 : 30863426 - 30863426 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	591	109
CEP95	90799	broad.mit.edu	37	17	62530763	62530763	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62530763C>T	ENST00000556440.2	+	17	2488	c.1978C>T	c.(1978-1980)Cga>Tga	p.R660*	CEP95_ENST00000553412.1_Nonsense_Mutation_p.R496*	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	660						centrosome|spindle pole	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						AAAAGAAAATCGACAGCAAAT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	100	102			NA	NA	17		NA											NA				62530763		1873	4102	5975	SO:0001587	stop_gained			AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890	90799	90799			25141	protein-coding gene	gene with protein product			coiled-coil domain containing 45	CCDC45	NA	21399614	Standard	NM_138363	NM_138363	NA	Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.1978C>T	17.37:g.62530763C>T	ENSP00000450461:p.Arg660*	NA	Q96M81	37	CCDS45763.1	.	.	.	.	.	.	.	.	.	.	C	37	6.434597	0.97564	.	.	ENSG00000258890	ENST00000553956;ENST00000556440;ENST00000553412	.	.	.	5.75	3.7	0.42460	.	0.118551	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1007	14.6377	0.68702	0.3794:0.6206:0.0:0.0	.	.	.	.	X	595;660;496	.	ENSP00000438458:R595X	R	+	1	2	CEP95	59961225	1.000000	0.71417	0.986000	0.45419	0.008000	0.06430	1.149000	0.31626	0.821000	0.34540	0.650000	0.86243	CGA	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445100.2		+	ENST00000556440.2	Nonsense_Mutation	SNP	17 : 62530763 - 62530763 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	193	33
RBL2	5934	broad.mit.edu	37	16	53514557	53514557	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53514557C>A	ENST00000262133.6	+	20	3097	c.2960C>A	c.(2959-2961)cCt>cAt	p.P987H	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	987	Domain B.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCTCCCACACCTACTCGCCTC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	115	120			NA	NA	16		NA											NA				53514557		2198	4300	6498	SO:0001583	missense			X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479	5934	5934			9894	protein-coding gene	gene with protein product		180203			NA	8361765, 8643454	Standard	NM_005611	NM_005611	NA	Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.2960C>A	16.37:g.53514557C>A	ENSP00000262133:p.Pro987His	NA	Q15073|Q16084|Q92812	37	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871245	0.91587	.	.	ENSG00000103479	ENST00000262133;ENST00000379935	D	0.91011	-2.77	5.67	5.67	0.87782	Retinoblastoma-associated protein, B-box (1);Cyclin-like (1);	0.000000	0.85682	D	0.000000	D	0.95401	0.8507	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	0.991;1.0	D;D	0.97110	0.93;1.0	D	0.95414	0.8501	10	0.87932	D	0	-18.8095	19.7806	0.96414	0.0:1.0:0.0:0.0	.	697;987	E9PG04;Q08999	.;RBL2_HUMAN	H	987;697	ENSP00000262133:P987H	ENSP00000262133:P987H	P	+	2	0	RBL2	52072058	1.000000	0.71417	0.965000	0.40720	0.865000	0.49528	7.502000	0.81614	2.669000	0.90835	0.650000	0.86243	CCT	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256908.3		+	ENST00000262133.6	Missense_Mutation	SNP	16 : 53514557 - 53514557 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	494	82
EXOSC3	51010	broad.mit.edu	37	9	37782101	37782101	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37782101C>T	ENST00000327304.5	-	3	520	c.508G>A	c.(508-510)Gct>Act	p.A170T	RP11-613M10.9_ENST00000540557.1_Intron|EXOSC3_ENST00000396521.3_Intron|EXOSC3_ENST00000490516.1_Intron	NM_016042.3	NP_057126.2	Q9NQT5	EXOS3_HUMAN	exosome component 3	170					CUT catabolic process|DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|isotype switching|rRNA processing	cytoplasmic exosome (RNase complex)|cytosol|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			breast(2)|endometrium(1)|kidney(1)	4				GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)		TCTTTATTAGCAACCACAAAC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	76	78			NA	NA	9		NA											NA				37782101		2203	4300	6503	SO:0001583	missense			BC002437	CCDS35016.1, CCDS43805.1	9p11	2009-01-20			ENSG00000107371	ENSG00000107371	51010	51010			17944	protein-coding gene	gene with protein product	exosome component Rrp40, CGI-102 protein	606489			NA	10810093, 11110791	Standard	NM_016042	NM_016042	NA	Approved	hRrp40p, Rrp40p, RRP40, CGI-102, p10, hRrp-40	uc004aal.3	Q9NQT5	OTTHUMG00000019932	ENST00000327304.5:c.508G>A	9.37:g.37782101C>T	ENSP00000323046:p.Ala170Thr	NA	Q5QP85|Q9Y3A8	37	CCDS35016.1	.	.	.	.	.	.	.	.	.	.	C	35	5.536122	0.96460	.	.	ENSG00000107371	ENST00000327304	T	0.17854	2.25	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.40956	0.1138	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.02758	-1.1114	10	0.33940	T	0.23	-1.419	17.2324	0.86988	0.0:1.0:0.0:0.0	.	170	Q9NQT5	EXOS3_HUMAN	T	170	ENSP00000323046:A170T	ENSP00000323046:A170T	A	-	1	0	EXOSC3	37772101	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.801000	0.85960	2.733000	0.93635	0.655000	0.94253	GCT	EXOSC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052478.3		-	ENST00000327304.5	Missense_Mutation	SNP	9 : 37782101 - 37782101 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	398	40
TAAR2	9287	broad.mit.edu	37	6	132939158	132939158	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132939158C>T	ENST00000275191.2	-	1	159	c.52G>A	c.(52-54)Gcc>Acc	p.A18T	TAAR2_ENST00000537809.1_Missense_Mutation_p.A18T|TAAR2_ENST00000367931.1_Missense_Mutation_p.A63T	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	63						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		ATTATCATGGCAAGATTGCCA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	107	108			NA	NA	6		NA											NA				132939158		2203	4300	6503	SO:0001583	missense			AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378	9287	9287		GPCR / Class A : Trace amine associated receptors	4514	protein-coding gene	gene with protein product		604849	G protein-coupled receptor 58	GPR58	NA	10684976, 15718104	Standard	NM_014626	NM_014626	NA	Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000275191.2:c.52G>A	6.37:g.132939158C>T	ENSP00000275191:p.Ala18Thr	NA	Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	37	CCDS5157.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.398649	0.42512	.	.	ENSG00000146378	ENST00000275191;ENST00000367931;ENST00000537809	T;T;T	0.71934	-0.61;-0.61;-0.61	5.7	3.81	0.43845	GPCR, rhodopsin-like superfamily (1);	0.422419	0.24506	N	0.037938	T	0.34077	0.0885	N	0.21545	0.675	0.24232	N	0.995398	B	0.17465	0.022	B	0.20955	0.032	T	0.28004	-1.0057	10	0.66056	D	0.02	-11.0516	6.0328	0.19688	0.129:0.6458:0.0:0.2252	.	63	Q9P1P5	TAAR2_HUMAN	T	18;63;18	ENSP00000275191:A18T;ENSP00000356908:A63T;ENSP00000441263:A18T	ENSP00000275191:A18T	A	-	1	0	TAAR2	132980851	0.000000	0.05858	0.771000	0.31576	0.994000	0.84299	-0.038000	0.12144	0.769000	0.33313	0.650000	0.86243	GCC	TAAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042261.2		-	ENST00000275191.2	Missense_Mutation	SNP	6 : 132939158 - 132939158 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	382	97
FGB	2244	broad.mit.edu	37	4	155487037	155487037	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155487037G>A	ENST00000509493.1	+	2	107				FGB_ENST00000302068.4_Silent_p.P64P|FGB_ENST00000502545.1_3'UTR			P02675	FIBB_HUMAN	fibrinogen beta chain	NA					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CTGCCCCACCGCCCATCAGTG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(106;1133 1613 21870 46110 52656)							NA				0													39	43	42			NA	NA	4		NA											NA				155487037		2203	4300	6503	SO:0001627	intron_variant				CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564	2244	2244		Fibrinogen C domain containing, Endogenous ligands	3662	protein-coding gene	gene with protein product		134830	fibrinogen, B beta polypeptide		NA		Standard	NM_005141	NM_005141	NA	Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000509493.1:c.-167-1708G>A	4.37:g.155487037G>A		NA	B2R7G3|Q3KPF2	37																																																																																				FGB-010	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000365255.1		+	ENST00000509493.1	Intron	SNP	4 : 155487037 - 155487037 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	43
TRPM2	7226	broad.mit.edu	37	21	45837893	45837893	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45837893G>A	ENST00000397932.2	+	21	3243	c.3230G>A	c.(3229-3231)cGc>cAc	p.R1077H	TRPM2_ENST00000397928.1_Missense_Mutation_p.R1077H|TRPM2_ENST00000498430.1_3'UTR|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000300481.9_Missense_Mutation_p.R1057H|TRPM2_ENST00000300482.5_Missense_Mutation_p.R1077H			O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1077						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TACCAcggccgccccgccgcg	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	53	53			NA	NA	21		NA											NA				45837893		2203	4299	6502	SO:0001583	missense			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185	7226	7226		Voltage-gated ion channels / Transient receptor potential cation channels, Nudix motif containing	12339	protein-coding gene	gene with protein product		603749		TRPC7	NA	9806837, 11385575, 16382100	Standard	NM_003307	NR_038257	NA	Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397932.2:c.3230G>A	21.37:g.45837893G>A	ENSP00000381026:p.Arg1077His	NA	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	37		.	.	.	.	.	.	.	.	.	.	G	18.31	3.595539	0.66219	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	4.54	4.54	0.55810	.	0.140827	0.48286	D	0.000181	T	0.62270	0.2414	M	0.87456	2.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.71547	-0.4560	10	0.87932	D	0	-34.5594	17.6937	0.88276	0.0:0.0:1.0:0.0	.	1077;863;1077	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	H	1077;1077;1057;1077	ENSP00000300482:R1077H;ENSP00000381023:R1077H;ENSP00000300481:R1057H;ENSP00000381026:R1077H	ENSP00000300481:R1057H	R	+	2	0	TRPM2	44662321	1.000000	0.71417	0.315000	0.25238	0.048000	0.14542	7.492000	0.81482	2.253000	0.74438	0.455000	0.32223	CGC	TRPM2-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000339787.1		+	ENST00000397932.2	Missense_Mutation	SNP	21 : 45837893 - 45837893 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	514	103
CHCHD4	131474	broad.mit.edu	37	3	14154654	14154654	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14154654T>C	ENST00000295767.5	-	4	525	c.201A>G	c.(199-201)ccA>ccG	p.P67P	CHCHD4_ENST00000396914.3_Silent_p.P54P	NM_144636.2	NP_653237.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4	54	CHCH.				protein transport|transmembrane transport	mitochondrial intermembrane space				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						CCCCAAGGCATGGGCAGTTCC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	75	75			NA	NA	3		NA											NA				14154654		2203	4300	6503	SO:0001819	synonymous_variant			BC017082	CCDS2617.1, CCDS43054.1	3p25.1	2012-10-15			ENSG00000163528	ENSG00000163528	131474	131474		Coiled-coil-helix-coiled-coil-helix domain containing	26467	protein-coding gene	gene with protein product	translocase of inner mitochondrial membrane 40 homolog (S. cerevisiae), mitochondrial intermembrane space import and assembly 40 homolog (S. cerevisiae)	611077			NA	22214851	Standard	NM_144636	NM_001098502	NA	Approved	FLJ31709, TIMM40, MIA40	uc003byj.4	Q8N4Q1	OTTHUMG00000129805	ENST00000295767.5:c.201A>G	3.37:g.14154654T>C		NA	A8K3Z9|Q96AI2|Q96MY6	37	CCDS2617.1																																																																																			CHCHD4-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340424.1		-	ENST00000295767.5	Silent	SNP	3 : 14154654 - 14154654 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	405	71
CRB1	23418	broad.mit.edu	37	1	197390735	197390735	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197390735G>A	ENST00000367399.2	+	4	1441	c.1441G>A	c.(1441-1443)Gcg>Acg	p.A481T	CRB1_ENST00000535699.1_Missense_Mutation_p.A524T|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000367400.3_Missense_Mutation_p.A593T|CRB1_ENST00000538660.1_Missense_Mutation_p.A593T|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000544212.1_Missense_Mutation_p.A74T	NM_001193640.1	NP_001180569.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	593	EGF-like 11.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.A593T(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GAAATGCATCGCGAAAGCTCC	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)	kidney(1)											117	111	113			NA	NA	1		NA											NA				197390735		2203	4300	6503	SO:0001583	missense				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376	23418	23418			2343	protein-coding gene	gene with protein product		604210	crumbs (Drosophila) homolog 1, crumbs homolog 1 (Drosophila)	RP12	NA	10373321, 10508521	Standard	NM_201253	NM_201253	NA	Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367399.2:c.1441G>A	1.37:g.197390735G>A	ENSP00000356369:p.Ala481Thr	NA	A2A308|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0	37	CCDS53454.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.650083	0.00785	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367401	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14	5.84	-11.7	0.00046	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.33000	0.0848	N	0.00419	-1.52	0.09310	N	1	B;B;B;B;B	0.09022	0.001;0.001;0.001;0.0;0.002	B;B;B;B;B	0.06405	0.001;0.001;0.002;0.001;0.002	T	0.31420	-0.9944	9	0.08381	T	0.77	.	7.7285	0.28773	0.5034:0.0715:0.3537:0.0714	.	593;524;481;242;593	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	T	524;593;593;481;74;242	ENSP00000438786:A524T;ENSP00000438091:A593T;ENSP00000356370:A593T;ENSP00000356369:A481T;ENSP00000444556:A74T	ENSP00000356369:A481T	A	+	1	0	CRB1	195657358	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.054000	0.11826	-2.928000	0.00302	-2.912000	0.00091	GCG	CRB1-005	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280653.1		+	ENST00000367399.2	Missense_Mutation	SNP	1 : 197390735 - 197390735 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	798	65
PPFIA3	8541	broad.mit.edu	37	19	49632175	49632175	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49632175G>A	ENST00000334186.4	+	4	762	c.413G>A	c.(412-414)cGc>cAc	p.R138H	PPFIA3_ENST00000602351.1_Missense_Mutation_p.R138H	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	138						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GTGGTGAAGCGCCAGGCCCAG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	61	59			NA	NA	19		NA											NA				49632175		2203	4300	6503	SO:0001583	missense			AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380	8541	8541		Sterile alpha motif (SAM) domain containing	9247	protein-coding gene	gene with protein product	protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3, liprin-alpha 3, liprin	603144			NA	9624153, 9734811	Standard	NM_003660	NM_003660	NA	Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.413G>A	19.37:g.49632175G>A	ENSP00000335614:p.Arg138His	NA	A8K142|Q3MJA0|Q9H8B5|Q9UEW4	37	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	G	36	5.858546	0.97036	.	.	ENSG00000177380	ENST00000334186;ENST00000421230	T	0.51325	0.71	4.74	4.74	0.60224	.	0.000000	0.44097	D	0.000481	T	0.56352	0.1979	N	0.24115	0.695	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.994;0.999	T	0.61845	-0.6979	10	0.87932	D	0	-14.6239	17.0217	0.86435	0.0:0.0:1.0:0.0	.	62;138;138	B4DEU8;O75145-2;O75145	.;.;LIPA3_HUMAN	H	138;62	ENSP00000335614:R138H	ENSP00000335614:R138H	R	+	2	0	PPFIA3	54323987	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.596000	0.98267	2.646000	0.89796	0.563000	0.77884	CGC	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465688.1		+	ENST00000334186.4	Missense_Mutation	SNP	19 : 49632175 - 49632175 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	521	87
MYH7B	57644	broad.mit.edu	37	20	33588098	33588098	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33588098G>A	ENST00000262873.7	+	37	5002	c.4910G>A	c.(4909-4911)cGc>cAc	p.R1637H		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1595						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TCCCATAGGCGCAACCACCAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	116	112			NA	NA	20		NA											NA				33588098		2047	4110	6157	SO:0001583	missense			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814	57644	57644		Myosins / Myosin superfamily : Class II	15906	protein-coding gene	gene with protein product		609928	myosin, heavy polypeptide 7B, cardiac muscle, beta		NA	11919279, 15014174	Standard	NM_020884	XM_006723839	NA	Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.4910G>A	20.37:g.33588098G>A	ENSP00000262873:p.Arg1637His	NA	Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	37	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418027	0.83449	.	.	ENSG00000078814	ENST00000262873	T	0.81415	-1.49	3.97	3.97	0.46021	Myosin tail (1);	0.000000	0.35235	N	0.003347	D	0.92364	0.7577	H	0.96547	3.84	0.58432	D	0.999991	D	0.76494	0.999	D	0.65773	0.938	D	0.95091	0.8222	10	0.87932	D	0	.	16.6423	0.85129	0.0:0.0:1.0:0.0	.	1595	A7E2Y1	MYH7B_HUMAN	H	1637	ENSP00000262873:R1637H	ENSP00000262873:R1637H	R	+	2	0	MYH7B	33051759	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	7.758000	0.85224	2.222000	0.72286	0.558000	0.71614	CGC	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078833.2		+	ENST00000262873.7	Missense_Mutation	SNP	20 : 33588098 - 33588098 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1158	250
USH2A	7399	broad.mit.edu	37	1	216424250	216424250	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216424250A>C	ENST00000307340.3	-	12	2548	c.2162T>G	c.(2161-2163)gTt>gGt	p.V721G	USH2A_ENST00000366942.3_Missense_Mutation_p.V721G|USH2A_ENST00000366943.2_Missense_Mutation_p.V721G	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	721	Laminin EGF-like 4.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CGTACCAATAACGTTTGCTTT	0.403		NA								HNSCC(13;0.011)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	128	132			NA	NA	1		NA											NA				216424250		2203	4300	6503	SO:0001583	missense			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781	7399	7399		Fibronectin type III domain containing	12601	protein-coding gene	gene with protein product	usherin	608400		USH2	NA	9624053, 10729113	Standard	NM_007123	NM_007123	NA	Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.2162T>G	1.37:g.216424250A>C	ENSP00000305941:p.Val721Gly	NA	Q5VVM9|Q6S362|Q9NS27	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	16.38	3.108035	0.56291	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.66815	-0.23;-0.23;-0.23	5.26	4.13	0.48395	EGF-like, laminin (4);	0.000000	0.39544	N	0.001331	D	0.87521	0.6198	H	0.98426	4.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.988;0.99	D	0.89397	0.3693	10	0.72032	D	0.01	.	10.6956	0.45896	0.9247:0.0:0.0753:0.0	.	721;721	O75445-2;O75445	.;USH2A_HUMAN	G	721	ENSP00000305941:V721G;ENSP00000355910:V721G;ENSP00000355909:V721G	ENSP00000305941:V721G	V	-	2	0	USH2A	214490873	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.606000	0.67641	0.850000	0.35239	0.533000	0.62120	GTT	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128138.1		-	ENST00000307340.3	Missense_Mutation	SNP	1 : 216424250 - 216424250 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	225	39
PLA2G6	8398	broad.mit.edu	37	22	38531004	38531004	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38531004C>A	ENST00000332509.3	-	6	1068	c.885G>T	c.(883-885)aaG>aaT	p.K295N	PLA2G6_ENST00000335539.3_Missense_Mutation_p.K295N|PLA2G6_ENST00000402064.1_Missense_Mutation_p.K295N	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	295					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CCTCTGCGTTCTTGGCCCAGT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	43	43			NA	NA	22		NA											NA				38531004		2203	4300	6503	SO:0001583	missense			AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	8398	8398	3.1.1.4	Patatin-like phospholipase domain containing, Parkinson disease, Ankyrin repeat domain containing	9039	protein-coding gene	gene with protein product	neurodegeneration with brain iron accumulation 2	603604			NA	9417066, 16799181, 19029121	Standard	NM_001004426	NM_001199562	NA	Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.885G>T	22.37:g.38531004C>A	ENSP00000333142:p.Lys295Asn	NA	A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	37	CCDS13967.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.54|15.54	2.862454|2.862454	0.51482|0.51482	.|.	.|.	ENSG00000184381|ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064;ENST00000335538;ENST00000396860;ENST00000451461|ENST00000427114;ENST00000427453;ENST00000452542	T;T;T|.	0.62941|.	-0.01;-0.01;-0.01|.	5.67|5.67	2.51|2.51	0.30379|0.30379	Ankyrin repeat-containing domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.35740|0.35740	0.0942|0.0942	N|N	0.13098|0.13098	0.295|0.295	0.58432|0.58432	D|D	0.999995|0.999995	D;D;D|.	0.89917|.	1.0;1.0;0.993|.	D;D;D|.	0.91635|.	0.999;0.997;0.917|.	T|T	0.04693|0.04693	-1.0933|-1.0933	10|5	0.25106|.	T|.	0.35|.	-42.4992|-42.4992	8.61|8.61	0.33797|0.33797	0.0:0.6465:0.0:0.3535|0.0:0.6465:0.0:0.3535	.|.	260;295;295|.	B7Z6K3;O60733-2;O60733|.	.;.;PA2G6_HUMAN|.	N|I	295;156;295;295;223;295;260|100;47;126	ENSP00000333142:K295N;ENSP00000335149:K295N;ENSP00000386100:K295N|.	ENSP00000333142:K295N|.	K|R	-|-	3|2	2|0	PLA2G6|PLA2G6	36860950|36860950	1.000000|1.000000	0.71417|0.71417	0.928000|0.928000	0.36995|0.36995	0.453000|0.453000	0.32348|0.32348	0.802000|0.802000	0.27069|0.27069	0.352000|0.352000	0.24053|0.24053	-0.254000|-0.254000	0.11334|0.11334	AAG|AGA	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321860.1		-	ENST00000332509.3	Missense_Mutation	SNP	22 : 38531004 - 38531004 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	235	42
HTR3C	170572	broad.mit.edu	37	3	183777674	183777674	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183777674C>T	ENST00000318351.1	+	8	1018	c.984C>T	c.(982-984)ttC>ttT	p.F328F		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	328						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AGACCGTCTTCATTACCTACC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	123	126			NA	NA	3		NA											NA				183777674		2203	4300	6503	SO:0001819	synonymous_variant			AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084	170572	170572		5-HT (serotonin) receptors, Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic	24003	protein-coding gene	gene with protein product		610121	5-hydroxytryptamine (serotonin) receptor 3, family member C		NA	12801637, 15157181	Standard	NM_130770	NM_130770	NA	Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.984C>T	3.37:g.183777674C>T		NA	A2RRR5	37	CCDS3250.1																																																																																			HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346296.1		+	ENST00000318351.1	Silent	SNP	3 : 183777674 - 183777674 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	560	118
TTYH3	80727	broad.mit.edu	37	7	2697971	2697971	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2697971G>A	ENST00000258796.7	+	12	1507	c.1302G>A	c.(1300-1302)gcG>gcA	p.A434A	TTYH3_ENST00000407643.1_Silent_p.A402A|TTYH3_ENST00000403167.1_Silent_p.A263A	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	434						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CGCGGCAGGCGCACGACAGCC	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	16	17			NA	NA	7		NA											NA				2697971		2187	4281	6468	SO:0001819	synonymous_variant				CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295	80727	80727			22222	protein-coding gene	gene with protein product		608919	tweety homolog 3 (Drosophila)		NA		Standard	XM_166523	NM_025250	NA	Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.1302G>A	7.37:g.2697971G>A		NA	A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	37	CCDS34588.1																																																																																			TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325082.2		+	ENST00000258796.7	Silent	SNP	7 : 2697971 - 2697971 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	120	22
NOS3	4846	broad.mit.edu	37	7	150696357	150696357	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150696357C>A	ENST00000484524.1	+	8	1036	c.1036C>A	c.(1036-1038)Ctg>Atg	p.L346M	NOS3_ENST00000297494.3_Missense_Mutation_p.L346M|NOS3_ENST00000461406.1_Missense_Mutation_p.L140M|NOS3_ENST00000467517.1_Missense_Mutation_p.L346M	NM_001160111.1	NP_001153583.1	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	346	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	AATTGGGGGCCTGGAGTTCCC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	87	85			NA	NA	7		NA											NA				150696357		2201	4296	6497	SO:0001583	missense				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	4846	4846	1.14.13.39		7876	protein-coding gene	gene with protein product	endothelial nitric oxide synthase	163729			NA	1379542	Standard	NM_000603	NM_000603	NA	Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1036C>A	7.37:g.150696357C>A	ENSP00000420215:p.Leu346Met	NA	A8KA63|B2RCQ1|Q13662|Q14251|Q14434|Q548C1|Q6GSL5|Q9UDC6	37	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	N	21.1	4.096264	0.76870	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.33216	1.5;1.42;1.5;1.5	5.31	5.31	0.75309	Nitric oxide synthase, oxygenase domain (2);	0.000000	0.44902	D	0.000414	T	0.56156	0.1966	M	0.71920	2.185	0.48087	D	0.99958	P;P;D;D;D	0.89917	0.951;0.951;0.99;1.0;0.999	D;D;D;D;D	0.97110	0.935;0.948;0.978;1.0;0.978	T	0.59563	-0.7431	10	0.87932	D	0	-8.473	16.5106	0.84283	0.0:1.0:0.0:0.0	.	346;346;346;140;346	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	M	346;140;346;346	ENSP00000297494:L346M;ENSP00000417143:L140M;ENSP00000420215:L346M;ENSP00000420551:L346M	ENSP00000297494:L346M	L	+	1	2	NOS3	150327290	0.993000	0.37304	0.995000	0.50966	0.996000	0.88848	3.120000	0.50430	2.479000	0.83701	0.639000	0.83563	CTG	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351550.1		+	ENST00000484524.1	Missense_Mutation	SNP	7 : 150696357 - 150696357 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	853	109
LRP1B	53353	broad.mit.edu	37	2	141253268	141253268	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141253268A>C	ENST00000389484.3	-	56	9871	c.8900T>G	c.(8899-8901)gTa>gGa	p.V2967G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2967	EGF-like 6.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCAATGTCTACACATGTTTT	0.413		NA								TSP Lung(27;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(99;50 2074 2507 20106)							NA				0													140	125	130			NA	NA	2		NA											NA				141253268		2203	4300	6503	SO:0001583	missense			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702	53353	53353		Low density lipoprotein receptors	6693	protein-coding gene	gene with protein product	LRP-deleted in tumors	608766			NA	10766186	Standard	NM_018557	NM_018557	NA	Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8900T>G	2.37:g.141253268A>C	ENSP00000374135:p.Val2967Gly	NA	Q8WY29|Q8WY30|Q8WY31	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	17.20	3.328978	0.60743	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95622	-3.76	5.73	5.73	0.89815	Growth factor, receptor (1);EGF-like calcium-binding (1);	0.174205	0.37623	N	0.002007	D	0.92753	0.7696	N	0.12961	0.28	0.80722	D	1	P	0.51147	0.942	P	0.54759	0.76	D	0.91102	0.4915	10	0.23302	T	0.38	.	11.9202	0.52787	0.9304:0.0:0.0696:0.0	.	2967	Q9NZR2	LRP1B_HUMAN	G	2967;2905	ENSP00000374135:V2967G	ENSP00000374135:V2967G	V	-	2	0	LRP1B	140969738	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.380000	0.79704	2.195000	0.70347	0.477000	0.44152	GTA	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254736.2		-	ENST00000389484.3	Missense_Mutation	SNP	2 : 141253268 - 141253268 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	212	74
VN1R2	317701	broad.mit.edu	37	19	53762196	53762196	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53762196A>G	ENST00000341702.3	+	1	652	c.568A>G	c.(568-570)Acc>Gcc	p.T190A		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	190					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	p.T190S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CCAGGTGATCACCATCAACCC	0.488		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)											45	45	45			NA	NA	19		NA											NA				53762196		2203	4300	6503	SO:0001583	missense			AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131	317701	317701		Vomeronasal receptors / Type 1, GPCR / Unclassified : Vomeronasal receptors, type 1	19872	protein-coding gene	gene with protein product					NA	12123587	Standard	NM_173856	NM_173856	NA	Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.568A>G	19.37:g.53762196A>G	ENSP00000351244:p.Thr190Ala	NA	A1L411|Q8TDU4	37	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	A	8.622	0.891570	0.17613	.	.	ENSG00000196131	ENST00000341702	T	0.24723	1.84	2.94	1.92	0.25849	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.46870	0.1415	M	0.89478	3.035	0.09310	N	1	D	0.55605	0.972	P	0.60609	0.877	T	0.34179	-0.9839	9	0.72032	D	0.01	.	3.328	0.07074	0.6274:0.2408:0.1318:0.0	.	190	Q8NFZ6	VN1R2_HUMAN	A	190	ENSP00000351244:T190A	ENSP00000351244:T190A	T	+	1	0	VN1R2	58454008	0.001000	0.12720	0.022000	0.16811	0.022000	0.10575	0.059000	0.14322	0.560000	0.29169	0.486000	0.48141	ACC	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464285.1		+	ENST00000341702.3	Missense_Mutation	SNP	19 : 53762196 - 53762196 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	284	49
NUP93	9688	broad.mit.edu	37	16	56867301	56867301	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56867301G>A	ENST00000564887.1	+	11	1780	c.1151G>A	c.(1150-1152)gGa>gAa	p.G384E	NUP93_ENST00000308159.5_Missense_Mutation_p.G507E|NUP93_ENST00000542526.1_Missense_Mutation_p.G384E|NUP93_ENST00000569842.1_Missense_Mutation_p.G507E	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	507					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						AAGTCCTCTGGACAGAGTGCT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(33;610 796 1305 1705 38917)							NA				0													68	60	63			NA	NA	16		NA											NA				56867301		2198	4300	6498	SO:0001583	missense			D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900	9688	9688			28958	protein-coding gene	gene with protein product		614351			NA	9348540, 9531546	Standard	NM_014669	NM_014669	NA	Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000564887.1:c.1151G>A	16.37:g.56867301G>A	ENSP00000458039:p.Gly384Glu	NA	Q14705	37	CCDS55996.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.216492	0.58452	.	.	ENSG00000102900	ENST00000308159;ENST00000542526	T;T	0.42131	0.98;0.98	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.38054	0.1026	L	0.36672	1.1	0.80722	D	1	B	0.30068	0.267	B	0.31101	0.124	T	0.09228	-1.0684	10	0.27785	T	0.31	-12.0839	19.7096	0.96089	0.0:0.0:1.0:0.0	.	507	Q8N1F7	NUP93_HUMAN	E	507;384	ENSP00000310668:G507E;ENSP00000440235:G384E	ENSP00000310668:G507E	G	+	2	0	NUP93	55424802	1.000000	0.71417	0.982000	0.44146	0.655000	0.38815	7.863000	0.87023	2.652000	0.90054	0.655000	0.94253	GGA	NUP93-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432380.2		+	ENST00000564887.1	Missense_Mutation	SNP	16 : 56867301 - 56867301 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	275	57
TTC21A	199223	broad.mit.edu	37	3	39178504	39178504	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39178504C>T	ENST00000431162.2	+	24	3365	c.3231C>T	c.(3229-3231)aaC>aaT	p.N1077N	TTC21A_ENST00000301819.6_Silent_p.N1078N|TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000440121.1_Silent_p.N1029N			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1077							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ATCCAGACAACGAGGTTGTGG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	81	80			NA	NA	3		NA											NA				39178504		2082	4199	6281	SO:0001819	synonymous_variant			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026	199223	199223		Tetratricopeptide (TTC) repeat domain containing	30761	protein-coding gene	gene with protein product		611430			NA		Standard	NM_145755	NM_145755	NA	Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.3231C>T	3.37:g.39178504C>T		NA	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	37	CCDS46800.1																																																																																			TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377829.1		+	ENST00000431162.2	Silent	SNP	3 : 39178504 - 39178504 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	295	30
CAND1	55832	broad.mit.edu	37	12	67699732	67699732	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:67699732C>A	ENST00000545606.1	+	10	2721	c.2284C>A	c.(2284-2286)Ctg>Atg	p.L762M		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	762					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TTTCCAAGCTCTGGTTGTCAC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	111	111			NA	NA	12		NA											NA				67699732		2203	4300	6503	SO:0001583	missense				CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530	55832	55832			30688	protein-coding gene	gene with protein product	TBP interacting protein	607727			NA	10048485, 8954946	Standard	NM_018448	NM_018448	NA	Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.2284C>A	12.37:g.67699732C>A	ENSP00000442318:p.Leu762Met	NA	B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	37	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116458	0.37339	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000544619	T;T	0.74106	-0.81;-0.81	5.48	2.15	0.27550	Armadillo-like helical (1);Armadillo-type fold (1);	0.069116	0.64402	D	0.000019	D	0.85274	0.5659	M	0.86028	2.79	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.76575	0.988;0.974	D	0.85583	0.1241	9	.	.	.	-5.4556	11.446	0.50123	0.0:0.7072:0.0:0.2928	.	594;762	Q86VP6-2;Q86VP6	.;CAND1_HUMAN	M	762;762;302	ENSP00000442318:L762M;ENSP00000444089:L302M	.	L	+	1	2	CAND1	65985999	0.951000	0.32395	0.998000	0.56505	0.989000	0.77384	0.608000	0.24223	0.653000	0.30826	0.650000	0.86243	CTG	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402105.1		+	ENST00000545606.1	Missense_Mutation	SNP	12 : 67699732 - 67699732 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	661	45
MPP6	51678	broad.mit.edu	37	7	24663381	24663381	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24663381C>A	ENST00000222644.5	+	2	345	c.95C>A	c.(94-96)cCt>cAt	p.P32H	MPP6_ENST00000396475.2_Missense_Mutation_p.P32H|MPP6_ENST00000409761.1_Intron			Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	NA	L27 1.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						ATGGAGAATCCTATTGTAAAA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	66	64			NA	NA	7		NA											NA				24663381		2203	4300	6503	SO:0001583	missense			AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926	51678	51678			18167	protein-coding gene	gene with protein product		606959			NA	10753959, 11311936	Standard		NM_016447	NA	Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.95C>A	7.37:g.24663381C>A	ENSP00000222644:p.Pro32His	NA	A4D157|Q9H0E1	37	CCDS5388.1	.	.	.	.	.	.	.	.	.	.	c	26.5	4.745140	0.89663	.	.	ENSG00000105926	ENST00000432190;ENST00000222644;ENST00000396475;ENST00000430180	T;T;T;T	0.15603	2.41;3.47;3.47;2.44	5.47	5.47	0.80525	L27, C-terminal (1);L27 (2);	0.000000	0.53938	D	0.000060	T	0.47377	0.1442	M	0.79926	2.475	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.46148	-0.9212	10	0.62326	D	0.03	.	19.7166	0.96122	0.0:1.0:0.0:0.0	.	32	Q9NZW5	MPP6_HUMAN	H	32	ENSP00000395859:P32H;ENSP00000222644:P32H;ENSP00000379737:P32H;ENSP00000391020:P32H	ENSP00000222644:P32H	P	+	2	0	MPP6	24629906	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.781000	0.85668	2.731000	0.93534	0.637000	0.83480	CCT	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250272.4		+	ENST00000222644.5	Missense_Mutation	SNP	7 : 24663381 - 24663381 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	343	57
NDUFA10	4705	broad.mit.edu	37	2	240921628	240921628	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240921628G>T	ENST00000404554.1	-	10	1012	c.1008C>A	c.(1006-1008)atC>atA	p.I336I	NDUFA10_ENST00000252711.2_Intron			O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	333					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	GCGGGTAGGGGATCCCCAGCT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	99	100			NA	NA	2		NA											NA				240921628		876	1991	2867	SO:0001819	synonymous_variant			AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414	4705	4705		Mitochondrial respiratory chain complex / Complex I	7684	protein-coding gene	gene with protein product	complex I 42kDa subunit	603835	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)		NA	9878551	Standard	NM_004544	NM_004544	NA	Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000404554.1:c.1008C>A	2.37:g.240921628G>T		NA		37																																																																																				NDUFA10-005	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000326142.1		-	ENST00000404554.1	Silent	SNP	2 : 240921628 - 240921628 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	463	90
MICAL2	9645	broad.mit.edu	37	11	12246330	12246330	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:12246330C>A	ENST00000256194.4	+	13	1939	c.1651C>A	c.(1651-1653)Ctg>Atg	p.L551M	MICAL2_ENST00000527546.1_Missense_Mutation_p.L551M|MICAL2_ENST00000342902.5_Missense_Mutation_p.L551M|MICAL2_ENST00000379612.3_Missense_Mutation_p.L551M|MICAL2_ENST00000537344.1_Missense_Mutation_p.L551M	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	551	CH.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TGGGTTGGCCCTGTGTGCCAT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	84	90			NA	NA	11		NA											NA				12246330		2201	4294	6495	SO:0001583	missense			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816	9645	9645			24693	protein-coding gene	gene with protein product		608881			NA	12110185	Standard	NM_014632	XM_005253249	NA	Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.1651C>A	11.37:g.12246330C>A	ENSP00000256194:p.Leu551Met	NA	D3DQW5|Q7Z3A8	37	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749488	0.69533	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	D;D;D;D;D	0.97752	-4.52;-4.52;-4.52;-4.52;-4.52	5.01	4.02	0.46733	Calponin homology domain (5);	0.000000	0.64402	D	0.000005	D	0.98485	0.9495	M	0.89353	3.025	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0	D	0.98206	1.0470	10	0.87932	D	0	.	7.4697	0.27342	0.0:0.7662:0.0:0.2338	.	551;551;551;551;551	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;MICA2_HUMAN	M	551;84;551;551;551;551	ENSP00000441689:L551M;ENSP00000256194:L551M;ENSP00000433965:L551M;ENSP00000344894:L551M;ENSP00000368932:L551M	ENSP00000256194:L551M	L	+	1	2	MICAL2	12202906	0.581000	0.26741	1.000000	0.80357	0.975000	0.68041	1.248000	0.32827	2.606000	0.88127	0.655000	0.94253	CTG	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385993.1		+	ENST00000256194.4	Missense_Mutation	SNP	11 : 12246330 - 12246330 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	357	16
TMEM187	8269	broad.mit.edu	37	X	153248033	153248033	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153248033G>A	ENST00000369982.4	+	2	1267	c.520G>A	c.(520-522)Gct>Act	p.A174T		NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	174						integral to membrane|transport vesicle				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGTGGTGGCCGCTGTGGGGCA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA	0,3835		0,0,0,1632,571	49	38	42		520	0.9	0	X		42	2,6726		0,1,1,2427,1871	no	missense	TMEM187	NM_003492.2	58	0,1,1,4059,2442	AA,AG,A,GG,G	NA	0.0297,0.0,0.0189	possibly-damaging	174/262	153248033	2,10561	2203	4300	6503	SO:0001583	missense			X92475	CCDS14739.1	Xq28	2007-03-14	2007-03-14	2007-03-14	ENSG00000177854	ENSG00000177854	8269	8269			13705	protein-coding gene	gene with protein product		300059	chromosome X open reading frame 12	CXorf12	NA	8661027	Standard	NM_003492	NM_003492	NA	Approved	ITBA1, DXS9878E	uc004fjq.2	Q14656	OTTHUMG00000024220	ENST00000369982.4:c.520G>A	X.37:g.153248033G>A	ENSP00000358999:p.Ala174Thr	NA	B2RC47|Q6IAV7	37	CCDS14739.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.215736	0.39102	0.0	2.97E-4	ENSG00000177854	ENST00000369982	T	0.29917	1.55	4.65	0.902	0.19290	.	0.311733	0.18440	N	0.141173	T	0.20740	0.0499	L	0.50919	1.6	0.09310	N	1	P	0.39964	0.697	B	0.27170	0.077	T	0.06899	-1.0801	10	0.59425	D	0.04	.	8.624	0.33877	0.3436:0.0:0.6564:0.0	.	174	Q14656	TM187_HUMAN	T	174	ENSP00000358999:A174T	ENSP00000358999:A174T	A	+	1	0	TMEM187	152901227	0.519000	0.26242	0.000000	0.03702	0.017000	0.09413	3.037000	0.49775	-0.247000	0.09597	-0.422000	0.05995	GCT	TMEM187-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000061093.1		+	ENST00000369982.4	Missense_Mutation	SNP	X : 153248033 - 153248033 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	142	40
TJP3	27134	broad.mit.edu	37	19	3730576	3730576	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3730576G>A	ENST00000541714.2	+	5	947	c.485G>A	c.(484-486)cGt>cAt	p.R162H	TJP3_ENST00000589378.1_Missense_Mutation_p.R171H|TJP3_ENST00000539908.2_Missense_Mutation_p.R126H|TJP3_ENST00000262968.9_Missense_Mutation_p.R181H|TJP3_ENST00000587686.1_Missense_Mutation_p.R181H|TJP3_ENST00000382008.3_Missense_Mutation_p.R162H	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	162						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCATGGGCGTAGGAGCCCA	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	19	18			NA	NA	19		NA											NA				3730576		2175	4225	6400	SO:0001583	missense			AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289	27134	27134			11829	protein-coding gene	gene with protein product	zona occludens 3	612689			NA		Standard		NM_001267560	NA	Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.485G>A	19.37:g.3730576G>A	ENSP00000439278:p.Arg162His	NA	A6NFP3|Q32N01	37	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	G	10.69	1.422210	0.25639	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.10005	2.94;3.09;2.92;3.02	3.75	2.68	0.31781	.	0.912560	0.09230	N	0.830629	T	0.11750	0.0286	L	0.27053	0.805	0.09310	N	1	D;P;D;D	0.63046	0.989;0.923;0.992;0.98	P;P;B;P	0.51170	0.661;0.487;0.379;0.661	T	0.29882	-0.9997	10	0.27082	T	0.32	.	7.5557	0.27822	0.0:0.1813:0.6317:0.187	.	181;181;162;162	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	H	162;126;162;181	ENSP00000439278:R162H;ENSP00000439991:R126H;ENSP00000371438:R162H;ENSP00000262968:R181H	ENSP00000262968:R181H	R	+	2	0	TJP3	3681576	0.998000	0.40836	0.370000	0.25965	0.078000	0.17371	4.502000	0.60400	0.752000	0.32923	0.491000	0.48974	CGT	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453434.1		+	ENST00000541714.2	Missense_Mutation	SNP	19 : 3730576 - 3730576 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	278	56
DNAH5	1767	broad.mit.edu	37	5	13700841	13700841	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:13700841C>T	ENST00000265104.4	-	78	13735	c.13631G>A	c.(13630-13632)gGc>gAc	p.G4544D		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4544					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTGTCCCAGCCAGCACCTTC	0.428		NA							Kartagener syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													196	186	189			NA	NA	5		NA											NA				13700841		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139	1767	1767		Axonemal dyneins	2950	protein-coding gene	gene with protein product	dynein heavy chain 5	603335	dynein, axonemal, heavy polypeptide 5		NA	9256245, 11788826	Standard	NM_001369	NM_001369	NA	Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.13631G>A	5.37:g.13700841C>T	ENSP00000265104:p.Gly4544Asp	NA	Q92860|Q96L74|Q9H5S7|Q9HCG9	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.366928	0.61513	.	.	ENSG00000039139	ENST00000265104	T	0.08008	3.14	5.95	5.07	0.68467	Dynein heavy chain (1);	0.156736	0.56097	D	0.000027	T	0.26882	0.0658	M	0.80982	2.52	0.58432	D	0.999995	P	0.44816	0.844	P	0.55749	0.783	T	0.02138	-1.1207	10	0.32370	T	0.25	.	17.1138	0.86683	0.0:0.8734:0.1266:0.0	.	4544	Q8TE73	DYH5_HUMAN	D	4544	ENSP00000265104:G4544D	ENSP00000265104:G4544D	G	-	2	0	DNAH5	13753841	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.966000	0.56795	1.488000	0.48433	0.650000	0.86243	GGC	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207057.2		-	ENST00000265104.4	Missense_Mutation	SNP	5 : 13700841 - 13700841 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	947	138
VWA3A	146177	broad.mit.edu	37	16	22142594	22142594	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22142594C>T	ENST00000389398.5	+	18	1817	c.1721C>T	c.(1720-1722)gCc>gTc	p.A574V	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	574	VWFA 1.					extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TTACAAAGTGCCTGGCGGTAG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	72	72			NA	NA	16		NA											NA				22142594		1956	4143	6099	SO:0001583	missense			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267	146177	146177			27088	protein-coding gene	gene with protein product					NA	12477932	Standard		XM_006721021	NA	Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.1721C>T	16.37:g.22142594C>T	ENSP00000374049:p.Ala574Val	NA	A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	37	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323604	0.81580	.	.	ENSG00000175267	ENST00000389398;ENST00000299840	T	0.09073	3.02	5.17	5.17	0.71159	.	0.068546	0.64402	D	0.000017	T	0.28234	0.0697	M	0.73319	2.225	0.80722	D	1	D;D	0.60575	0.988;0.984	D;P	0.66084	0.941;0.785	T	0.01121	-1.1445	10	0.87932	D	0	.	17.295	0.87168	0.0:1.0:0.0:0.0	.	574;198	A6NCI4;A6NCI4-2	VWA3A_HUMAN;.	V	574;197	ENSP00000374049:A574V	ENSP00000299840:A197V	A	+	2	0	VWA3A	22050095	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	4.885000	0.63142	2.415000	0.81967	0.558000	0.71614	GCC	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000430052.1		+	ENST00000389398.5	Missense_Mutation	SNP	16 : 22142594 - 22142594 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	181	40
TRANK1	9881	broad.mit.edu	37	3	36876271	36876271	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36876271G>T	ENST00000428977.2	-	10	4138	c.3863C>A	c.(3862-3864)gCt>gAt	p.A1288D	TRANK1_ENST00000429976.2_Missense_Mutation_p.A1838D|TRANK1_ENST00000301807.6_Missense_Mutation_p.A1288D			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1838					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TGCAATAGCAGCTTCTTCAAA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	108	108			NA	NA	3		NA											NA				36876271		1913	4119	6032	SO:0001583	missense			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016	9881	9881		Ankyrin repeat domain containing, Tetratricopeptide (TTC) repeat domain containing	29011	protein-coding gene	gene with protein product	lupus brain antigen 1, KIAA0342				NA	9205841	Standard	NM_014831	NM_014831	NA	Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000428977.2:c.3863C>A	3.37:g.36876271G>T	ENSP00000416826:p.Ala1288Asp	NA	Q8N8K0	37		.	.	.	.	.	.	.	.	.	.	G	25.1	4.604635	0.87157	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.39406	1.08;1.5;1.08	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000017	T	0.56834	0.2012	L	0.29908	0.895	0.58432	D	0.99999	D	0.89917	1.0	D	0.87578	0.998	T	0.57394	-0.7819	10	0.87932	D	0	.	20.5471	0.99284	0.0:0.0:1.0:0.0	.	1838	O15050	TRNK1_HUMAN	D	1288;1838;1288	ENSP00000416826:A1288D;ENSP00000416168:A1838D;ENSP00000301807:A1288D	ENSP00000301807:A1288D	A	-	2	0	TRANK1	36851275	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.778000	0.75043	2.941000	0.99782	0.655000	0.94253	GCT	TRANK1-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000369655.1		-	ENST00000428977.2	Missense_Mutation	SNP	3 : 36876271 - 36876271 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	364	96
FABP4	2167	broad.mit.edu	37	8	82391667	82391667	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82391667C>A	ENST00000256104.4	-	3	425	c.330G>T	c.(328-330)gaG>gaT	p.E110D	FABP4_ENST00000518669.1_5'UTR|RP11-157I4.4_ENST00000524085.2_RNA	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	fatty acid binding protein 4, adipocyte	110					triglyceride catabolic process	cytoplasm|nucleus|soluble fraction	fatty acid binding|protein binding|transporter activity			breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6			Epithelial(68;0.213)			GTTTATCATCCTCTCGTTTTC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(35;550 1252 19644 48360)							NA				0													302	270	281			NA	NA	8		NA											NA				82391667		2203	4300	6503	SO:0001583	missense			J02874	CCDS6230.1	8q21.13	2013-03-01			ENSG00000170323	ENSG00000170323	2167	2167		Fatty acid binding protein family	3559	protein-coding gene	gene with protein product		600434			NA	2481498	Standard	NM_001442	NM_001442	NA	Approved	A-FABP, aP2	uc003ycd.2	P15090	OTTHUMG00000164602	ENST00000256104.4:c.330G>T	8.37:g.82391667C>A	ENSP00000256104:p.Glu110Asp	NA	Q6IBA1	37	CCDS6230.1	.	.	.	.	.	.	.	.	.	.	C	9.214	1.031752	0.19590	.	.	ENSG00000170323	ENST00000256104	T	0.08458	3.09	5.56	3.71	0.42584	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.477666	0.24683	N	0.036444	T	0.03520	0.0101	N	0.08118	0	0.33815	D	0.628387	B	0.02656	0.0	B	0.01281	0.0	T	0.33954	-0.9848	10	0.13853	T	0.58	.	5.3675	0.16121	0.1482:0.6352:0.0:0.2166	.	110	P15090	FABP4_HUMAN	D	110	ENSP00000256104:E110D	ENSP00000256104:E110D	E	-	3	2	FABP4	82554222	0.567000	0.26626	1.000000	0.80357	0.961000	0.63080	-0.082000	0.11304	0.779000	0.33543	0.655000	0.94253	GAG	FABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379368.1		-	ENST00000256104.4	Missense_Mutation	SNP	8 : 82391667 - 82391667 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	365	58
CWF19L2	143884	broad.mit.edu	37	11	107309826	107309826	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:107309826C>T	ENST00000282251.5	-	6	681	c.654G>A	c.(652-654)tcG>tcA	p.S218S	CWF19L2_ENST00000433523.1_Silent_p.S218S	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	218							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CTTTAGTAATCGATGACACAC	0.388		NA											C	0	0	NA	NA	2184	NA	1	,	,	NA	2e-04	NA	NA	NA	0	0	EXOME	NA	NA	7e-04	SNP								NA				0													78	67	71			NA	NA	11		NA											NA				107309826		2201	4298	6499	SO:0001819	synonymous_variant			AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404	143884	143884			26508	protein-coding gene	gene with protein product					NA	14702039	Standard	NM_152434	NM_152434	NA	Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.654G>A	11.37:g.107309826C>T		NA	A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	37	CCDS8336.2																																																																																			CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328825.2		-	ENST00000282251.5	Silent	SNP	11 : 107309826 - 107309826 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	124	22
ADCY5	111	broad.mit.edu	37	3	123051430	123051430	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123051430C>T	ENST00000491190.1	-	5	935	c.398G>A	c.(397-399)cGc>cAc	p.R133H	ADCY5_ENST00000462833.1_Missense_Mutation_p.R500H|ADCY5_ENST00000309879.5_Missense_Mutation_p.R150H			O95622	ADCY5_HUMAN	adenylate cyclase 5	500					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CTTGTCAAAGCGGGCGAAGAG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	36	37			NA	NA	3		NA											NA				123051430		2203	4300	6503	SO:0001583	missense			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	111	111	4.6.1.1	Adenylate cyclases	236	protein-coding gene	gene with protein product		600293			NA	10481931	Standard	XM_171048	NM_183357	NA	Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000491190.1:c.398G>A	3.37:g.123051430C>T	ENSP00000418537:p.Arg133His	NA	Q7RTV7|Q8NFM3	37		.	.	.	.	.	.	.	.	.	.	C	33	5.206509	0.95033	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617;ENST00000483566	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	4.77	4.77	0.60923	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000001	D	0.92153	0.7512	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.991;0.998	D	0.94048	0.7315	10	0.87932	D	0	.	17.9877	0.89159	0.0:1.0:0.0:0.0	.	500;133	O95622;B3KWA8	ADCY5_HUMAN;.	H	500;133;150;59;59	ENSP00000419361:R500H;ENSP00000418537:R133H;ENSP00000308685:R150H;ENSP00000420082:R59H;ENSP00000420252:R59H	ENSP00000308685:R150H	R	-	2	0	ADCY5	124534120	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	7.651000	0.83577	2.485000	0.83878	0.484000	0.47621	CGC	ADCY5-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000355890.1		-	ENST00000491190.1	Missense_Mutation	SNP	3 : 123051430 - 123051430 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	143	31
ZNF350	59348	broad.mit.edu	37	19	52468200	52468200	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52468200T>C	ENST00000243644.4	-	5	1733	c.1506A>G	c.(1504-1506)ggA>ggG	p.G502G	HCCAT3_ENST00000600253.1_RNA|HCCAT3_ENST00000595010.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	502					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		CCTGTGCAAATCCTCTGTTAT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	93	98			NA	NA	19		NA											NA				52468200		2203	4300	6503	SO:0001819	synonymous_variant			AF295096	CCDS12845.1	19q13.41	2013-05-23			ENSG00000256683	ENSG00000256683	59348	59348		Zinc fingers, C2H2-type, -	16656	protein-coding gene	gene with protein product		605422			NA	11090615, 11161714	Standard	NM_021632	NM_021632	NA	Approved	ZBRK1, ZFQR	uc002pyd.3	Q9GZX5	OTTHUMG00000182538	ENST00000243644.4:c.1506A>G	19.37:g.52468200T>C		NA	Q96G73|Q9HAQ4	37	CCDS12845.1																																																																																			ZNF350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462278.1		-	ENST00000243644.4	Silent	SNP	19 : 52468200 - 52468200 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	357	68
B3GNT2	10678	broad.mit.edu	37	2	62449557	62449557	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:62449557C>T	ENST00000301998.4	+	2	454	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	B3GNT2_ENST00000405767.1_Missense_Mutation_p.R68W	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	68						Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			GAAGCTGAACCGGCAGTACAA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													192	222	212			NA	NA	2		NA											NA				62449557		2203	4300	6503	SO:0001583	missense			AB049584	CCDS1870.1	2p15	2013-02-19	2006-04-12	2006-04-12	ENSG00000170340	ENSG00000170340	10678	10678		Beta 3-glycosyltransferases	15629	protein-coding gene	gene with protein product		605581	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	B3GNT1	NA	9892646, 11042166	Standard	NM_006577	NM_006577	NA	Approved	B3GNT-2, BETA3GNT, B3GN-T2, B3GN-T1	uc002sbs.3	Q9NY97	OTTHUMG00000129444	ENST00000301998.4:c.202C>T	2.37:g.62449557C>T	ENSP00000305595:p.Arg68Trp	NA	Q9NQQ9|Q9NQR0|Q9NUT9	37	CCDS1870.1	.	.	.	.	.	.	.	.	.	.	C	8.717	0.913331	0.17907	.	.	ENSG00000170340	ENST00000301998;ENST00000405767	T;T	0.29655	1.56;1.56	5.75	1.85	0.25348	.	0.860794	0.10728	N	0.640914	T	0.33904	0.0879	L	0.56769	1.78	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.38607	-0.9653	10	0.66056	D	0.02	.	15.42	0.75003	0.462:0.538:0.0:0.0	.	68	Q9NY97	B3GN2_HUMAN	W	68	ENSP00000305595:R68W;ENSP00000384692:R68W	ENSP00000305595:R68W	R	+	1	2	B3GNT2	62303061	0.000000	0.05858	0.449000	0.26957	0.907000	0.53573	-0.074000	0.11450	0.431000	0.26258	-0.262000	0.10625	CGG	B3GNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251606.2		+	ENST00000301998.4	Missense_Mutation	SNP	2 : 62449557 - 62449557 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2564	688
ADORA2A	135	broad.mit.edu	37	22	24829461	24829461	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24829461C>T	ENST00000337539.7	+	2	548	c.89C>T	c.(88-90)gCc>gTc	p.A30V	ADORA2A_ENST00000496497.1_Intron|ADORA2A-AS1_ENST00000326341.4_RNA|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000543438.1_RNA	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	30					apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	GTGTGCTGGGCCGTGTGGCTC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	86	105			NA	NA	22		NA											NA				24829461		2203	4300	6503	SO:0001583	missense			X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271	135	135		GPCR / Class A : Adenosine receptors	263	protein-coding gene	gene with protein product		102776		ADORA2	NA	1662665, 2541503	Standard	NM_000675	NM_001278497	NA	Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.89C>T	22.37:g.24829461C>T	ENSP00000336630:p.Ala30Val	NA	B2R7E0	37	CCDS13826.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963669	0.92791	.	.	ENSG00000128271	ENST00000424232;ENST00000444262;ENST00000541988;ENST00000337539;ENST00000417596;ENST00000436735;ENST00000439591	T;T;T;T;T	0.33216	1.42;2.22;2.22;1.42;1.42	4.53	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.52273	0.1724	M	0.70842	2.15	0.80722	D	1	D	0.76494	0.999	D	0.63192	0.912	T	0.55289	-0.8164	10	0.51188	T	0.08	-14.2269	16.4299	0.83839	0.0:1.0:0.0:0.0	.	30	P29274	AA2AR_HUMAN	V	30	ENSP00000404497:A30V;ENSP00000414802:A30V;ENSP00000336630:A30V;ENSP00000397071:A30V;ENSP00000400190:A30V	ENSP00000336630:A30V	A	+	2	0	ADORA2A	23159461	1.000000	0.71417	0.992000	0.48379	0.983000	0.72400	7.463000	0.80869	2.350000	0.79820	0.561000	0.74099	GCC	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319971.2		+	ENST00000337539.7	Missense_Mutation	SNP	22 : 24829461 - 24829461 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	401	86
KCNK4	50801	broad.mit.edu	37	11	64064699	64064699	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64064699G>A	ENST00000539216.1	+	3	782	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	KCNK4_ENST00000539651.1_3'UTR|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000394525.2_Missense_Mutation_p.R141Q|KCNK4_ENST00000538767.1_Missense_Mutation_p.G75S|KCNK4_ENST00000422670.2_Missense_Mutation_p.R141Q			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	141						integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						GTCGGGGACCGGCTGGGCTCC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	48	47			NA	NA	11		NA											NA				64064699		2201	4297	6498	SO:0001583	missense			AF247042	CCDS8067.1	11q13	2012-03-07			ENSG00000182450	ENSG00000182450	50801	50801		Potassium channels, Voltage-gated ion channels / Potassium channels, Two-P	6279	protein-coding gene	gene with protein product		605720			NA	10767409, 16382106	Standard	NM_033311	NM_033310	NA	Approved	K2p4.1, TRAAK	uc001nzk.1	Q9NYG8	OTTHUMG00000168006	ENST00000539216.1:c.422G>A	11.37:g.64064699G>A	ENSP00000444948:p.Arg141Gln	NA	B5TJL1|Q96T94	37	CCDS8067.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.23|15.23	2.770476|2.770476	0.49680|0.49680	.|.	.|.	ENSG00000182450|ENSG00000182450	ENST00000538767|ENST00000422670;ENST00000539852;ENST00000394525;ENST00000544845;ENST00000539216	.|T;T;T	.|0.31510	.|1.49;1.49;1.49	5.36|5.36	4.25|4.25	0.50352|0.50352	.|Ion transport 2 (1);	.|0.064498	.|0.64402	.|D	.|0.000007	T|T	0.13500|0.13500	0.0327|0.0327	N|N	0.05012|0.05012	-0.13|-0.13	0.38410|0.38410	D|D	0.945908|0.945908	B;B|B	0.14438|0.21905	0.01;0.01|0.062	B;B|B	0.10450|0.28784	0.005;0.005|0.094	T|T	0.16188|0.16188	-1.0411|-1.0411	8|10	0.87932|0.10111	D|T	0|0.7	.|.	8.2058|8.2058	0.31454|0.31454	0.1877:0.0:0.8123:0.0|0.1877:0.0:0.8123:0.0	.|.	114;75|141	B4DJC9;F5GYE0|Q9NYG8	.;.|KCNK4_HUMAN	S|Q	75|141;166;141;203;141	.|ENSP00000402797:R141Q;ENSP00000378033:R141Q;ENSP00000444948:R141Q	ENSP00000446454:G75S|ENSP00000378033:R141Q	G|R	+|+	1|2	0|0	KCNK4|KCNK4	63821275|63821275	1.000000|1.000000	0.71417|0.71417	0.959000|0.959000	0.39883|0.39883	0.977000|0.977000	0.68977|0.68977	5.891000|5.891000	0.69782|0.69782	2.521000|2.521000	0.84997|0.84997	0.555000|0.555000	0.69702|0.69702	GGC|CGG	KCNK4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396430.1		+	ENST00000539216.1	Missense_Mutation	SNP	11 : 64064699 - 64064699 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	432	22
KMT2C	58508	broad.mit.edu	37	7	151891109	151891109	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151891109G>A	ENST00000262189.6	-	31	4863	c.4645C>T	c.(4645-4647)Cca>Tca	p.P1549S	KMT2C_ENST00000355193.2_Missense_Mutation_p.P1549S	NM_170606.2	NP_733751.2			lysine (K)-specific methyltransferase 2C	NA											NA						TTGTGTATTGGCAACAGCTGT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	119	123			NA	NA	7		NA											NA				151891109		2203	4300	6503	SO:0001583	missense			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609	58508	58508		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	13726	protein-coding gene	gene with protein product		606833	myeloid/lymphoid or mixed-lineage leukemia 3	MLL3	NA	10819331	Standard		XM_005250026	NA	Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.4645C>T	7.37:g.151891109G>A	ENSP00000262189:p.Pro1549Ser	NA		37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	9.326	1.059299	0.19987	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.45276	0.9;0.9	5.42	3.6	0.41247	.	0.150792	0.30565	N	0.009353	T	0.26702	0.0653	L	0.40543	1.245	0.31239	N	0.695425	B;B	0.33637	0.013;0.42	B;B	0.28465	0.003;0.09	T	0.21177	-1.0253	10	0.07030	T	0.85	.	10.5384	0.45018	0.2239:0.0:0.7761:0.0	.	1549;610	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	S	1549	ENSP00000262189:P1549S;ENSP00000347325:P1549S	ENSP00000262189:P1549S	P	-	1	0	MLL3	151522042	0.938000	0.31826	0.641000	0.29422	0.888000	0.51559	0.589000	0.23939	1.268000	0.44264	0.650000	0.86243	CCA	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318887.3		-	ENST00000262189.6	Missense_Mutation	SNP	7 : 151891109 - 151891109 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	594	105
KREMEN1	83999	broad.mit.edu	37	22	29517357	29517357	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29517357T>G	ENST00000400338.2	+	4	418	c.365T>G	c.(364-366)cTt>cGt	p.L122R	KREMEN1_ENST00000327813.5_Missense_Mutation_p.L122R|KREMEN1_ENST00000407188.1_Missense_Mutation_p.L120R|KREMEN1_ENST00000400335.4_Missense_Mutation_p.L122R			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	120	WSC.				cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						CCTGGAAACCTTGGCTGCTAC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	92	92			NA	NA	22		NA											NA				29517357		2100	4230	6330	SO:0001583	missense			AB059618	CCDS43000.1, CCDS13849.1, CCDS43000.2	22q12.1	2008-03-27	2002-11-13	2002-11-15	ENSG00000183762	ENSG00000183762	NA	83999			17550	protein-coding gene	gene with protein product		609898	kringle containing transmembrane protein	KREMEN	NA	11267660	Standard		NM_001039570	NA	Approved	KRM1	uc011akm.1	Q96MU8	OTTHUMG00000030987	ENST00000400338.2:c.365T>G	22.37:g.29517357T>G	ENSP00000383192:p.Leu122Arg	NA	B0QY46|B0QY47|B1AJR5|Q5TIB9|Q6P3X6|Q9BY70|Q9UGS5|Q9UGU1	37		.	.	.	.	.	.	.	.	.	.	T	21.3	4.134638	0.77662	.	.	ENSG00000183762	ENST00000400335;ENST00000400338;ENST00000327813;ENST00000407188	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	5.14	5.14	0.70334	Carbohydrate-binding WSC (2);Kringle (1);Kringle-like fold (1);	0.000000	0.52532	D	0.000065	T	0.74291	0.3697	M	0.77616	2.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.997	T	0.73720	-0.3894	10	0.31617	T	0.26	.	13.2238	0.59903	0.0:0.0:0.0:1.0	.	120;122;122	Q96MU8;Q96MU8-2;Q96MU8-3	KREM1_HUMAN;.;.	R	122;122;122;120	ENSP00000383189:L122R;ENSP00000383192:L122R;ENSP00000331242:L122R;ENSP00000385431:L120R	ENSP00000331242:L122R	L	+	2	0	KREMEN1	27847357	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.474000	0.81024	2.075000	0.62263	0.460000	0.39030	CTT	KREMEN1-201	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000320947.1		+	ENST00000400338.2	Missense_Mutation	SNP	22 : 29517357 - 29517357 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	448	108
LAMA4	3910	broad.mit.edu	37	6	112479990	112479990	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112479990G>A	ENST00000230538.7	-	14	2158	c.1761C>T	c.(1759-1761)gtC>gtT	p.V587V	LAMA4_ENST00000389463.4_Silent_p.V580V|RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000424408.2_Silent_p.V580V|LAMA4_ENST00000522006.1_Silent_p.V580V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	587	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TAGCTTCTTGGACTAAATCAT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													195	177	183			NA	NA	6		NA											NA				112479990		2203	4300	6503	SO:0001819	synonymous_variant				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769	3910	3910		Laminins	6484	protein-coding gene	gene with protein product		600133			NA	7959779	Standard	NM_001105206	NM_001105206	NA	Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1761C>T	6.37:g.112479990G>A		NA	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	37	CCDS43491.1																																																																																			LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041876.2		-	ENST00000230538.7	Silent	SNP	6 : 112479990 - 112479990 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	412	22
ADAMTSL3	57188	broad.mit.edu	37	15	84539609	84539609	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:84539609C>T	ENST00000286744.5	+	9	1082	c.858C>T	c.(856-858)ccC>ccT	p.P286P	ADAMTSL3_ENST00000567476.1_Silent_p.P286P	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	286						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTAACAGCCCCGGCGTCTTTC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	62	60			NA	NA	15		NA											NA				84539609		2203	4300	6503	SO:0001819	synonymous_variant			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218	57188	57188		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	14633	protein-coding gene	gene with protein product		609199			NA	9628581, 10574462	Standard	NM_207517	NM_207517	NA	Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.858C>T	15.37:g.84539609C>T		NA	A1A566|A1A567|Q9ULI7	37	CCDS10326.1																																																																																			ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000304007.2		+	ENST00000286744.5	Silent	SNP	15 : 84539609 - 84539609 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	355	74
ZBED1	9189	broad.mit.edu	37	X	2406917	2406917	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2406917C>T	ENST00000381223.4	-	2	2047	c.1844G>A	c.(1843-1845)cGc>cAc	p.R615H	DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.R615H|ZBED1_ENST00000515319.1_5'UTR|ZBED1_ENST00000381218.3_Missense_Mutation_p.R615H	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	615						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGGGCGACGCGCGTGGCCGT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	120	120			NA	NA	X		NA											NA				2406917		2203	4296	6499	SO:0001583	missense			AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717	9189	9189		Pseudoautosomal regions / PAR1, Zinc fingers, BED-type	447	protein-coding gene	gene with protein product		300178	Ac-like transposable element	ALTE	NA	9872452, 9887332, 23533661	Standard	NM_004729	NM_001171135	NA	Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.1844G>A	X.37:g.2406917C>T	ENSP00000370621:p.Arg615His	NA	Q96BY4	37	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211017	0.39102	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218	T;T;T	0.22336	1.96;1.96;1.96	3.06	3.06	0.35304	HAT dimerisation (1);Ribonuclease H-like (1);	0.371038	0.23307	N	0.049612	T	0.41880	0.1178	.	.	.	0.09310	N	1	D	0.76494	0.999	D	0.64144	0.922	T	0.27020	-1.0086	9	0.72032	D	0.01	.	13.6519	0.62316	0.0:1.0:0.0:0.0	.	615	O96006	ZBED1_HUMAN	H	615	ENSP00000370621:R615H;ENSP00000370620:R615H;ENSP00000370616:R615H	ENSP00000370616:R615H	R	-	2	0	ZBED1	2416917	0.964000	0.33143	0.141000	0.22245	0.139000	0.21198	5.063000	0.64332	1.155000	0.42497	0.519000	0.50382	CGC	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000144310.3		-	ENST00000381223.4	Missense_Mutation	SNP	X : 2406917 - 2406917 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	786	233
POLH	5429	broad.mit.edu	37	6	43565513	43565513	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43565513A>G	ENST00000372236.4	+	5	866	c.571A>G	c.(571-573)Acc>Gcc	p.T191A	POLH_ENST00000535400.1_Missense_Mutation_p.T129A|POLH_ENST00000372226.1_Missense_Mutation_p.T191A	NM_006502.2	NP_006493.1	Q9Y253	POLH_HUMAN	polymerase (DNA directed), eta	191	UmuC.				DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CCTGCAGCTCACCGTGGGAGC	0.458		NA						DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	121	120			NA	NA	6		NA											NA				43565513		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	AB024313	CCDS4902.1	6p21	2014-09-17			ENSG00000170734	ENSG00000170734	5429	5429			9181	protein-coding gene	gene with protein product		603968			NA	10385124, 10398605	Standard	NM_006502	NM_006502	NA	Approved	RAD30A, XP-V	uc003ovq.4	Q9Y253	OTTHUMG00000014743	ENST00000372236.4:c.571A>G	6.37:g.43565513A>G	ENSP00000361310:p.Thr191Ala	NA	Q7L8E3|Q96BC4|Q9BX13	37	CCDS4902.1	.	.	.	.	.	.	.	.	.	.	A	5.086	0.201592	0.09652	.	.	ENSG00000170734	ENST00000372236;ENST00000535400;ENST00000372226	T;T;T	0.70045	-0.45;-0.45;-0.45	5.4	5.4	0.78164	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	0.282328	0.40385	N	0.001111	T	0.13243	0.0321	N	0.00621	-1.32	0.39626	D	0.970104	B;B	0.12630	0.002;0.006	B;B	0.12837	0.005;0.008	T	0.33085	-0.9882	10	0.08381	T	0.77	-32.9496	9.0597	0.36427	0.9162:0.0:0.0838:0.0	.	129;191	B4DG64;Q9Y253	.;POLH_HUMAN	A	191;129;191	ENSP00000361310:T191A;ENSP00000442102:T129A;ENSP00000361300:T191A	ENSP00000361300:T191A	T	+	1	0	POLH	43673491	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.911000	0.48774	2.051000	0.60960	0.467000	0.42956	ACC	POLH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040666.1		+	ENST00000372236.4	Missense_Mutation	SNP	6 : 43565513 - 43565513 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	424	67
TFPI	7035	broad.mit.edu	37	2	188332545	188332545	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:188332545C>T	ENST00000233156.3	-	7	1037	c.743G>A	c.(742-744)aGt>aAt	p.S248N	AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000392365.1_Missense_Mutation_p.S248N	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	248	BPTI/Kunitz inhibitor 3.				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	CCCACATCCACTGTACTTAAA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	152	154			NA	NA	2		NA											NA				188332545		2203	4300	6503	SO:0001583	missense				CCDS2294.1, CCDS33349.1	2q32	2008-06-02			ENSG00000003436	ENSG00000003436	7035	7035			11760	protein-coding gene	gene with protein product	extrinsic pathway inhibitor	152310		LACI	NA	1993173	Standard	NM_006287	XM_005246818	NA	Approved	EPI, TFI, TFPI1	uc002upy.3	P10646	OTTHUMG00000132634	ENST00000233156.3:c.743G>A	2.37:g.188332545C>T	ENSP00000233156:p.Ser248Asn	NA	O95103|Q53TS4	37	CCDS2294.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.355321	0.61293	.	.	ENSG00000003436	ENST00000392365;ENST00000233156;ENST00000426055	T;T;T	0.58060	0.36;0.36;0.36	5.44	3.54	0.40534	Proteinase inhibitor I2, Kunitz metazoa (5);Proteinase inhibitor I2, Kunitz, conserved site (1);	0.204893	0.49916	D	0.000130	T	0.54367	0.1854	M	0.71581	2.175	0.29044	N	0.884898	P	0.52842	0.956	P	0.46049	0.502	T	0.54516	-0.8282	10	0.33141	T	0.24	.	12.2335	0.54500	0.0:0.6561:0.3439:0.0	.	248	P10646	TFPI1_HUMAN	N	248	ENSP00000376172:S248N;ENSP00000233156:S248N;ENSP00000397248:S248N	ENSP00000233156:S248N	S	-	2	0	TFPI	188040790	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	2.230000	0.42999	0.694000	0.31654	0.557000	0.71058	AGT	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255881.1		-	ENST00000233156.3	Missense_Mutation	SNP	2 : 188332545 - 188332545 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	649	152
MTMR12	54545	broad.mit.edu	37	5	32230272	32230272	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32230272T>G	ENST00000382142.3	-	16	2026	c.1856A>C	c.(1855-1857)aAg>aCg	p.K619T	MTMR12_ENST00000510216.1_5'UTR|MTMR12_ENST00000280285.5_Missense_Mutation_p.K565T|MTMR12_ENST00000264934.5_Missense_Mutation_p.K509T	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	619	Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GTCAGTGGACTTGCTATGCCA	0.448		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				32230272		2203	4300	6503	SO:0001583	missense			AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712	54545	54545		Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins	18191	protein-coding gene	gene with protein product		606501	phosphatidylinositol-3-phosphate associated protein	PIP3AP	NA	11504939, 12495846	Standard	NM_019061	XM_005248313	NA	Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.1856A>C	5.37:g.32230272T>G	ENSP00000371577:p.Lys619Thr	NA	Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	37	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.210419	0.58343	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	T;T;T	0.42131	0.98;0.98;0.98	5.78	2.13	0.27403	Myotubularin phosphatase domain (1);	0.470463	0.23450	N	0.048057	T	0.42245	0.1194	L	0.59436	1.845	0.21325	N	0.999729	P;B;P	0.37158	0.585;0.449;0.505	B;B;B	0.42827	0.399;0.212;0.317	T	0.28870	-1.0030	10	0.49607	T	0.09	.	9.2291	0.37425	0.0:0.2043:0.0:0.7957	.	509;565;619	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	T	565;619;509	ENSP00000280285:K565T;ENSP00000371577:K619T;ENSP00000264934:K509T	ENSP00000264934:K509T	K	-	2	0	MTMR12	32266029	1.000000	0.71417	0.969000	0.41365	0.800000	0.45204	2.127000	0.42035	0.139000	0.18822	0.459000	0.35465	AAG	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366579.1		-	ENST00000382142.3	Missense_Mutation	SNP	5 : 32230272 - 32230272 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	574	110
CCBE1	147372	broad.mit.edu	37	18	57115301	57115301	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:57115301C>T	ENST00000439986.4	-	7	726	c.689G>A	c.(688-690)gGc>gAc	p.G230D	CCBE1_ENST00000398179.2_Missense_Mutation_p.A6T	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	230					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GATATACTTGCCCAGGTCAGC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)							NA				0													110	79	90			NA	NA	18		NA											NA				57115301		2203	4300	6503	SO:0001583	missense			AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287	147372	147372			29426	protein-coding gene	gene with protein product		612753			NA	11853319, 12975309	Standard	NM_133459	NM_133459	NA	Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.689G>A	18.37:g.57115301C>T	ENSP00000404464:p.Gly230Asp	NA	Q6MZX5|Q86SS2|Q8TF19	37	CCDS32838.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.90|14.90	2.672116|2.672116	0.47781|0.47781	.|.	.|.	ENSG00000183287|ENSG00000183287	ENST00000398179|ENST00000439986	T|T	0.33438|0.68479	1.41|-0.33	5.62|5.62	4.74|4.74	0.60224|0.60224	.|.	.|0.531492	.|0.21278	.|N	.|0.077192	T|T	0.67429|0.67429	0.2892|0.2892	L|L	0.57536|0.57536	1.79|1.79	0.21020|0.21020	N|N	0.999809|0.999809	P|P;P	0.40731|0.45531	0.728|0.666;0.86	B|B;P	0.41332|0.47075	0.354|0.194;0.536	T|T	0.64076|0.64076	-0.6492|-0.6492	9|10	0.87932|0.62326	D|D	0|0.03	-24.5082|-24.5082	11.0934|11.0934	0.48130|0.48130	0.0:0.9139:0.0:0.0861|0.0:0.9139:0.0:0.0861	.|.	6|230;39	Q6UXH8-2|Q6UXH8;Q6UXH8-3	.|CCBE1_HUMAN;.	T|D	6|230	ENSP00000381241:A6T|ENSP00000404464:G230D	ENSP00000381241:A6T|ENSP00000404464:G230D	A|G	-|-	1|2	0|0	CCBE1|CCBE1	55266281|55266281	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.932000|0.932000	0.56968|0.56968	3.725000|3.725000	0.54970|0.54970	2.662000|2.662000	0.90505|0.90505	0.591000|0.591000	0.81541|0.81541	GCA|GGC	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449685.2		-	ENST00000439986.4	Missense_Mutation	SNP	18 : 57115301 - 57115301 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	370	77
DCAF15	90379	broad.mit.edu	37	19	14069989	14069989	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14069989G>A	ENST00000254337.6	+	7	938	c.917G>A	c.(916-918)cGt>cAt	p.R306H		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	306										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GCCCCAGCCCGTTCTTCTGGG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	34	32			NA	NA	19		NA											NA				14069989		2203	4299	6502	SO:0001583	missense			BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017	90379	90379		DDB1 and CUL4 associated factors	25095	protein-coding gene	gene with protein product			chromosome 19 open reading frame 72	C19orf72	NA		Standard	NM_138353	NM_138353	NA	Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.917G>A	19.37:g.14069989G>A	ENSP00000254337:p.Arg306His	NA	B3KS86|Q96DW0|Q9BU31	37	CCDS32926.1	.	.	.	.	.	.	.	.	.	.	g	5.964	0.361856	0.11296	.	.	ENSG00000132017	ENST00000254337	.	.	.	4.65	2.51	0.30379	.	1.602430	0.03963	U	0.290281	T	0.21841	0.0526	N	0.14661	0.345	0.09310	N	0.999998	B	0.33964	0.434	B	0.29440	0.102	T	0.20075	-1.0286	9	0.30854	T	0.27	-3.0763	6.1558	0.20335	0.3277:0.0:0.6723:0.0	.	306	Q66K64	DCA15_HUMAN	H	306	.	ENSP00000254337:R306H	R	+	2	0	DCAF15	13930989	0.000000	0.05858	0.345000	0.25642	0.023000	0.10783	-0.092000	0.11129	0.380000	0.24823	0.561000	0.74099	CGT	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458099.1		+	ENST00000254337.6	Missense_Mutation	SNP	19 : 14069989 - 14069989 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	560	91
ZNF18	7566	broad.mit.edu	37	17	11896000	11896000	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11896000G>T	ENST00000322748.3	-	4	751	c.147C>A	c.(145-147)taC>taA	p.Y49*	ZNF18_ENST00000580306.2_Nonsense_Mutation_p.Y49*|ZNF18_ENST00000454073.3_Nonsense_Mutation_p.Y49*	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	49	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		ACATCACCTGGTAACGGAACT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	89	91			NA	NA	17		NA											NA				11896000		2203	4300	6503	SO:0001587	stop_gained			X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957	7566	7566		Zinc fingers, C2H2-type, -, -, -	12969	protein-coding gene	gene with protein product		194524	zinc finger protein 18 (KOX 11)		NA	15702252	Standard	XM_085596	XM_005256786	NA	Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.147C>A	17.37:g.11896000G>T	ENSP00000315664:p.Tyr49*	NA	Q5QHQ3|Q8IYC4|Q8NAH6	37	CCDS32568.1	.	.	.	.	.	.	.	.	.	.	G	35	5.544561	0.96488	.	.	ENSG00000154957	ENST00000454073;ENST00000322748	.	.	.	5.29	3.31	0.37934	.	0.000000	0.41294	D	0.000901	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.1966	7.8206	0.29286	0.1889:0.0:0.8111:0.0	.	.	.	.	X	49	.	ENSP00000315664:Y49X	Y	-	3	2	ZNF18	11836725	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.417000	0.44653	0.628000	0.30357	0.655000	0.94253	TAC	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000441450.2		-	ENST00000322748.3	Nonsense_Mutation	SNP	17 : 11896000 - 11896000 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	455	78
CAMSAP2	23271	broad.mit.edu	37	1	200817753	200817753	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200817753T>G	ENST00000358823.2	+	11	2126	c.1856T>G	c.(1855-1857)aTt>aGt	p.I619S	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.I603S|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.I630S	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	630						cytoplasm|microtubule	protein binding				NA						TCAGAAGATATTCCTGAAACT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	116	117			NA	NA	1		NA											NA				200817753		2203	4300	6503	SO:0001583	missense			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200	23271	23271			29188	protein-coding gene	gene with protein product		613775	calmodulin regulated spectrin-associated protein 1-like 1	CAMSAP1L1	NA	15897902, 19508979	Standard	NM_203459	XM_005245040	NA	Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000358823.2:c.1856T>G	1.37:g.200817753T>G	ENSP00000351684:p.Ile619Ser	NA	B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	37	CCDS1404.1	.	.	.	.	.	.	.	.	.	.	T	15.45	2.835861	0.50951	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.38722	1.12;1.12;1.12	5.72	5.72	0.89469	.	0.057116	0.64402	D	0.000002	T	0.51176	0.1659	L	0.53249	1.67	0.80722	D	1	P;P;D	0.58970	0.6;0.913;0.984	B;P;P	0.56788	0.187;0.528;0.806	T	0.44298	-0.9337	10	0.09084	T	0.74	-17.6841	16.0204	0.80478	0.0:0.0:0.0:1.0	.	603;630;619	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	S	619;603;630	ENSP00000351684:I619S;ENSP00000416800:I603S;ENSP00000236925:I630S	ENSP00000236925:I630S	I	+	2	0	CAMSAP1L1	199084376	1.000000	0.71417	0.995000	0.50966	0.974000	0.67602	7.499000	0.81566	2.174000	0.68829	0.533000	0.62120	ATT	CAMSAP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087034.2		+	ENST00000358823.2	Missense_Mutation	SNP	1 : 200817753 - 200817753 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	703	157
TSHZ3	57616	broad.mit.edu	37	19	31770107	31770107	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:31770107G>A	ENST00000240587.4	-	2	919	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	198					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTGCTCTGCCGGTACAGCTGC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	55	56			NA	NA	19		NA											NA				31770107		2203	4300	6503	SO:0001583	missense			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297	57616	57616		Teashirt zinc fingers, Homeoboxes / ZF class, Zinc fingers, C2H2-type	30700	protein-coding gene	gene with protein product	teashirt 3	614119	zinc finger protein 537, teashirt family zinc finger 3	ZNF537	NA		Standard	NM_020856	NM_020856	NA	Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.592C>T	19.37:g.31770107G>A	ENSP00000240587:p.Arg198Trp	NA	Q9H0G6|Q9P254	37	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306921	0.60305	.	.	ENSG00000121297	ENST00000240587	T	0.19105	2.17	5.42	3.11	0.35812	.	0.000000	0.85682	D	0.000000	T	0.43366	0.1244	M	0.72479	2.2	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.44498	-0.9324	10	0.87932	D	0	-21.9214	12.0876	0.53706	0.0:0.0:0.4553:0.5447	.	198	Q63HK5	TSH3_HUMAN	W	198	ENSP00000240587:R198W	ENSP00000240587:R198W	R	-	1	2	TSHZ3	36461947	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.263000	0.51546	1.217000	0.43442	0.655000	0.94253	CGG	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316743.2		-	ENST00000240587.4	Missense_Mutation	SNP	19 : 31770107 - 31770107 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	487	93
MCM3	4172	broad.mit.edu	37	6	52141118	52141118	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52141118C>T	ENST00000596288.1	-	9	1484	c.1457G>A	c.(1456-1458)cGg>cAg	p.R486Q	MCM3_ENST00000419835.2_Missense_Mutation_p.R395Q|MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000229854.7_Missense_Mutation_p.R441Q	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	441	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	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GGCATTCAGCCGAGCATGGAT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	57	64			NA	NA	6		NA											NA				52141118		2203	4300	6503	SO:0001583	missense			X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118	4172	4172			6945	protein-coding gene	gene with protein product		602693	minichromosome maintenance deficient (S. cerevisiae) 3, MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)		NA	1549468	Standard		NM_002388	NA	Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000596288.1:c.1457G>A	6.37:g.52141118C>T	ENSP00000472940:p.Arg486Gln	NA	Q92660|Q9BTR3|Q9NUE7	37	CCDS4940.2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025812	0.75390	.	.	ENSG00000112118	ENST00000229854;ENST00000419835	T;T	0.06218	3.33;3.33	5.13	5.13	0.70059	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.02688	0.0081	L	0.28740	0.885	0.80722	D	1	B;B	0.31655	0.334;0.211	B;B	0.28011	0.085;0.059	T	0.40117	-0.9580	10	0.66056	D	0.02	-13.7045	13.109	0.59263	0.0:0.9233:0.0:0.0767	.	395;441	B4DUQ9;P25205	.;MCM3_HUMAN	Q	441;395	ENSP00000229854:R441Q;ENSP00000388647:R395Q	ENSP00000229854:R441Q	R	-	2	0	MCM3	52249077	1.000000	0.71417	0.819000	0.32651	0.954000	0.61252	5.896000	0.69822	2.669000	0.90835	0.655000	0.94253	CGG	MCM3-001	KNOWN	overlapping_uORF|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040897.3		-	ENST00000596288.1	Missense_Mutation	SNP	6 : 52141118 - 52141118 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	156	9
ZBTB46	140685	broad.mit.edu	37	20	62421293	62421293	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62421293C>T	ENST00000245663.4	-	2	968	c.818G>A	c.(817-819)cGg>cAg	p.R273Q	ZBTB46_ENST00000395104.1_Missense_Mutation_p.R273Q|ZBTB46_ENST00000302995.2_Missense_Mutation_p.R273Q	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					TTTGTTTTTCCGATTCTTCCT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	78	79			NA	NA	20		NA											NA				62421293		2203	4300	6503	SO:0001583	missense			AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584	140685	140685		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	16094	protein-coding gene	gene with protein product	BTB-ZF protein expressed in effector lymphocytes	614639	BTB (POZ) domain containing 4	ZNF340, BTBD4	NA		Standard	NM_025224	NM_025224	NA	Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.818G>A	20.37:g.62421293C>T	ENSP00000245663:p.Arg273Gln	NA	E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	37	CCDS13538.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461000	0.63513	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	T;T;T	0.12774	2.65;2.65;2.65	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.20740	0.0499	M	0.63843	1.955	0.47123	D	0.999327	D	0.57899	0.981	P	0.46275	0.51	T	0.04870	-1.0921	10	0.11794	T	0.64	.	19.0349	0.92972	0.0:1.0:0.0:0.0	.	273	Q86UZ6	ZBT46_HUMAN	Q	273	ENSP00000245663:R273Q;ENSP00000303102:R273Q;ENSP00000378536:R273Q	ENSP00000245663:R273Q	R	-	2	0	ZBTB46	61891737	0.997000	0.39634	0.966000	0.40874	0.785000	0.44390	5.613000	0.67688	2.749000	0.94314	0.655000	0.94253	CGG	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080232.2		-	ENST00000245663.4	Missense_Mutation	SNP	20 : 62421293 - 62421293 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	566	109
BEND2	139105	broad.mit.edu	37	X	18221838	18221838	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18221838G>A	ENST00000380033.4	-	5	822	c.690C>T	c.(688-690)ttC>ttT	p.F230F	BEND2_ENST00000380030.3_Silent_p.F230F	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	230								p.F230F(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ATGGCATACCGAAACAAGGAA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											168	135	146			NA	NA	X		NA											NA				18221838		2203	4300	6503	SO:0001819	synonymous_variant			AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324	139105	139105		BEN domain containing	28509	protein-coding gene	gene with protein product			chromosome X open reading frame 20	CXorf20	NA	12477932	Standard	NM_153346	NM_153346	NA	Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.690C>T	X.37:g.18221838G>A		NA	Q5JXE5	37	CCDS14184.1																																																																																			BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055940.1		-	ENST00000380033.4	Silent	SNP	X : 18221838 - 18221838 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	411	116
RAPGEF4	11069	broad.mit.edu	37	2	173848280	173848280	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173848280T>G	ENST00000397081.3	+	11	1204	c.1061T>G	c.(1060-1062)aTt>aGt	p.I354S	RAPGEF4_ENST00000535187.1_Missense_Mutation_p.I134S|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.I353S|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.I210S|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.I201S|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.I354S|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.I201S|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.I183S|RAPGEF4_ENST00000473043.1_3'UTR	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	354					blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CTTCTTCATATTAAAGCCTTA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													194	185	188			NA	NA	2		NA											NA				173848280		1840	4102	5942	SO:0001583	missense			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428	11069	11069			16626	protein-coding gene	gene with protein product	cAMP-regulated guanine nucleotide exchange factor II,  exchange protein directly activated by cAMP 2	606058	RAP guanine-nucleotide-exchange factor (GEF) 4		NA	10777494, 9856955	Standard	NM_007023	NM_007023	NA	Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.1061T>G	2.37:g.173848280T>G	ENSP00000380271:p.Ile354Ser	NA	B2R7R3|B7Z912|O95636|Q8IXK6|Q8TAA4	37	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.940936	0.73557	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000539767;ENST00000535187	D;D;D;D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9	6.08	6.08	0.98989	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.85682	D	0.000000	D	0.92698	0.7679	M	0.79926	2.475	0.80722	D	1	D;D;P;P;D	0.89917	1.0;1.0;0.919;0.531;0.999	D;D;P;P;D	0.87578	0.989;0.997;0.771;0.466;0.998	D	0.93435	0.6789	10	0.87932	D	0	.	16.6512	0.85203	0.0:0.0:0.0:1.0	.	181;183;210;354;354	B7Z805;B7Z2R0;Q8WZA2-3;Q8WZA2;E9PB94	.;.;.;RPGF4_HUMAN;.	S	353;354;354;210;183;201;201;181;134	ENSP00000264111:I353S;ENSP00000380271:I354S;ENSP00000387104:I354S;ENSP00000380276:I210S;ENSP00000440135:I183S;ENSP00000440250:I201S;ENSP00000437384:I201S;ENSP00000438011:I134S	ENSP00000264111:I353S	I	+	2	0	RAPGEF4	173556526	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.683000	0.84093	2.333000	0.79357	0.482000	0.46254	ATT	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257864.2		+	ENST00000397081.3	Missense_Mutation	SNP	2 : 173848280 - 173848280 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	699	112
KLHL10	317719	broad.mit.edu	37	17	39994291	39994291	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39994291G>A	ENST00000293303.4	+	1	260	c.107G>A	c.(106-108)gGc>gAc	p.G36D	KLHL10_ENST00000485613.1_3'UTR	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	36						cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				AGACTAGAGGGCAAGCTCTGC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	147	146			NA	NA	17		NA											NA				39994291		2080	4208	6288	SO:0001583	missense			AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594	317719	317719		Kelch-like, BTB/POZ domain containing	18829	protein-coding gene	gene with protein product		608778	kelch-like 10 (Drosophila)		NA		Standard	NM_152467	NM_152467	NA	Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.107G>A	17.37:g.39994291G>A	ENSP00000293303:p.Gly36Asp	NA	Q6NW28|Q96MC0	37	CCDS42340.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514210	0.64522	.	.	ENSG00000161594	ENST00000448203;ENST00000293303;ENST00000438813	T;T;T	0.72167	-0.63;-0.63;-0.63	4.84	4.84	0.62591	BTB/POZ (1);BTB/POZ fold (2);	0.478194	0.23137	N	0.051501	T	0.78091	0.4229	L	0.49778	1.585	0.42499	D	0.992925	D;D	0.76494	0.999;0.997	D;D	0.67900	0.954;0.917	T	0.74321	-0.3703	10	0.26408	T	0.33	.	14.8509	0.70295	0.0:0.0:1.0:0.0	.	36;36	B4DXV2;Q6JEL2	.;KLH10_HUMAN	D	36	ENSP00000391983:G36D;ENSP00000293303:G36D;ENSP00000416221:G36D	ENSP00000293303:G36D	G	+	2	0	KLHL10	37247817	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.787000	0.69013	2.542000	0.85734	0.650000	0.86243	GGC	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326535.1		+	ENST00000293303.4	Missense_Mutation	SNP	17 : 39994291 - 39994291 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	564	114
SNX33	257364	broad.mit.edu	37	15	75949349	75949349	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75949349C>T	ENST00000308527.5	+	2	2715	c.1518C>T	c.(1516-1518)ggC>ggT	p.G506G		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	506	BAR.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						GTGACGAGGGCCGCATGGTGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	52	53			NA	NA	15		NA											NA				75949349		2197	4294	6491	SO:0001819	synonymous_variant			AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548	257364	257364			28468	protein-coding gene	gene with protein product			SH3 and PX domain containing 3	SH3PX3	NA	16374509, 16782399, 18353773	Standard	NM_153271	NM_153271	NA	Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.1518C>T	15.37:g.75949349C>T		NA		37	CCDS10283.1																																																																																			SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286471.1		+	ENST00000308527.5	Silent	SNP	15 : 75949349 - 75949349 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	260	46
IL17REL	400935	broad.mit.edu	37	22	50439203	50439203	+	Missense_Mutation	SNP	G	G	A	rs143091006	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50439203G>A	ENST00000389983.2	-	5	463	c.199C>T	c.(199-201)Cgg>Tgg	p.R67W	IL17REL_ENST00000341280.5_Missense_Mutation_p.R67W	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	67										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CCCTGCTGCCGGTGGGAGGCC	0.706		NA											g	4	0.0018	0.01	NA	2184	NA	0.9994	,	,	NA	5e-04	NA	NA	NA	0.0021	0.8632	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0									TRP/ARG	23,4373		0,23,2175	15	18	17		199	1.1	0.1	22	dbSNP_134	17	0,8582		0,0,4291	yes	missense	IL17REL	NM_001001694.2	101	0,23,6466	AA,AG,GG	NA	0.0,0.5232,0.1772	probably-damaging	67/337	50439203	23,12955	2198	4291	6489	SO:0001583	missense			AK123987	CCDS33679.1	22q13.33	2009-01-13			ENSG00000188263	ENSG00000188263	400935	400935			33808	protein-coding gene	gene with protein product		613414			NA		Standard	NM_001001694	NM_001001694	NA	Approved	FLJ41993	uc003bje.1	Q6ZVW7	OTTHUMG00000150242	ENST00000389983.2:c.199C>T	22.37:g.50439203G>A	ENSP00000374633:p.Arg67Trp	NA	A6NCN4|A6PVC1	37	CCDS33679.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	g	16.01	3.000076	0.54147	0.005232	0.0	ENSG00000188263	ENST00000389983;ENST00000341280	T;T	0.16073	2.37;2.37	3.36	1.11	0.20524	.	0.440966	0.17529	U	0.170950	T	0.15522	0.0374	L	0.54323	1.7	0.09310	N	1	D	0.67145	0.996	P	0.53861	0.736	T	0.06338	-1.0832	10	0.59425	D	0.04	.	3.456	0.07515	0.141:0.0:0.6043:0.2547	.	67	Q6ZVW7	I17EL_HUMAN	W	67	ENSP00000374633:R67W;ENSP00000342520:R67W	ENSP00000342520:R67W	R	-	1	2	IL17REL	48781330	0.054000	0.20591	0.119000	0.21687	0.081000	0.17604	1.066000	0.30604	0.495000	0.27882	0.651000	0.88453	CGG	IL17REL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317011.1		-	ENST00000389983.2	Missense_Mutation	SNP	22 : 50439203 - 50439203 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	126	8
NOTCH4	4855	broad.mit.edu	37	6	32165082	32165082	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32165082G>T	ENST00000375023.3	-	27	5184	c.5046C>A	c.(5044-5046)gtC>gtA	p.V1682V	NOTCH4_ENST00000443903.2_Silent_p.V91V	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1682					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TAACCTGGCAGACCTCCCGAG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	45	43			NA	NA	6		NA											NA				32165082		2201	4300	6501	SO:0001819	synonymous_variant				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301	4855	4855		Ankyrin repeat domain containing	7884	protein-coding gene	gene with protein product		164951	Notch (Drosophila) homolog 4, Notch homolog 4 (Drosophila)	INT3	NA	7835890	Standard		NM_004557	NA	Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5046C>A	6.37:g.32165082G>T		NA	B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	37	CCDS34420.1																																																																																			NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076045.2		-	ENST00000375023.3	Silent	SNP	6 : 32165082 - 32165082 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	484	91
SLC4A1AP	22950	broad.mit.edu	37	2	27886811	27886811	+	Silent	SNP	C	C	A	rs139689483	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27886811C>A	ENST00000326019.6	+	1	474	c.192C>A	c.(190-192)acC>acA	p.T64T		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	64						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					AGTCAGAGACCCTGGCGTCGC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	85	87			NA	NA	2		NA											NA				27886811		2203	4300	6503	SO:0001819	synonymous_variant				CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798	22950	22950			13813	protein-coding gene	gene with protein product	lung cancer oncogene 3	602655	solute carrier family 4 (anion exchanger), member 1, adapter protein		NA	9422766	Standard	NM_018158	NM_018158	NA	Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.192C>A	2.37:g.27886811C>A		NA	A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	37	CCDS33166.1																																																																																			SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324550.1		+	ENST00000326019.6	Silent	SNP	2 : 27886811 - 27886811 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	762	109
USP49	25862	broad.mit.edu	37	6	41774276	41774276	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41774276C>T	ENST00000394253.3	-	3	775	c.446G>A	c.(445-447)cGc>cAc	p.R149H	USP49_ENST00000373009.3_Missense_Mutation_p.R149H|USP49_ENST00000373010.1_Missense_Mutation_p.R149H|USP49_ENST00000373006.1_Missense_Mutation_p.R149H|USP49_ENST00000297229.2_Missense_Mutation_p.R149H			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	149					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGCCAGCAGGCGCTGACGCCG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	13	12			NA	NA	6		NA											NA				41774276		2185	4272	6457	SO:0001583	missense			AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663	25862	25862		Ubiquitin-specific peptidases	20078	protein-coding gene	gene with protein product			ubiquitin specific protease 49		NA	14715245	Standard	NM_018561	NM_018561	NA	Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.446G>A	6.37:g.41774276C>T	ENSP00000377797:p.Arg149His	NA	Q5T3D9|Q5T3E0|Q96CK4	37		.	.	.	.	.	.	.	.	.	.	C	10.23	1.292763	0.23564	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.06687	3.76;3.27;3.76;3.54;3.54	4.46	4.46	0.54185	.	0.404141	0.27896	N	0.017420	T	0.01523	0.0049	N	0.08118	0	0.33826	D	0.629658	B	0.22983	0.078	B	0.23275	0.045	T	0.47598	-0.9105	10	0.14656	T	0.56	-16.6087	11.6726	0.51411	0.0:0.671:0.329:0.0	.	149	Q70CQ1-2	.	H	149	ENSP00000377797:R149H;ENSP00000362101:R149H;ENSP00000362100:R149H;ENSP00000362097:R149H;ENSP00000297229:R149H	ENSP00000297229:R149H	R	-	2	0	USP49	41882254	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	2.582000	0.46085	2.288000	0.76882	0.655000	0.94253	CGC	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000316513.3		-	ENST00000394253.3	Missense_Mutation	SNP	6 : 41774276 - 41774276 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	182	25
ZDHHC22	283576	broad.mit.edu	37	14	77606018	77606018	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77606018T>C	ENST00000319374.4	-	2	266	c.64A>G	c.(64-66)Acc>Gcc	p.T22A	RP11-463C8.4_ENST00000557752.1_Intron	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	zinc finger, DHHC-type containing 22	22						integral to membrane	acyltransferase activity|zinc ion binding			kidney(1)|lung(1)|urinary_tract(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		AGCACGAAGGTCACCAGGGAG	0.677		NA									OREG0022834	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													10	13	12			NA	NA	14		NA											NA				77606018		2105	4212	6317	SO:0001583	missense			AK095612	CCDS45140.1	14q24.3	2008-08-06	2004-03-05	2004-03-10	ENSG00000177108	ENSG00000177108	283576	283576		Zinc fingers, DHHC-type	20106	protein-coding gene	gene with protein product			chromosome 14 open reading frame 59	C14orf59	NA		Standard	NM_174976	NM_174976	NA	Approved		uc010asp.3	Q8N966		ENST00000319374.4:c.64A>G	14.37:g.77606018T>C	ENSP00000318222:p.Thr22Ala	1177	A6NH02|B7Z2L5|Q149P4	37	CCDS45140.1	.	.	.	.	.	.	.	.	.	.	T	34	5.300149	0.95574	.	.	ENSG00000177108	ENST00000319374;ENST00000555389;ENST00000555327	T	0.55930	0.49	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.46639	0.1403	L	0.29908	0.895	0.80722	D	1	P	0.46656	0.882	P	0.48571	0.582	T	0.32348	-0.9910	10	0.09843	T	0.71	.	14.4951	0.67680	0.0:0.0:0.0:1.0	.	22	Q8N966	ZDH22_HUMAN	A	22	ENSP00000318222:T22A	ENSP00000318222:T22A	T	-	1	0	ZDHHC22	76675771	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.673000	0.83973	2.163000	0.67991	0.459000	0.35465	ACC	ZDHHC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414289.1		-	ENST00000319374.4	Missense_Mutation	SNP	14 : 77606018 - 77606018 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	56	7
BRDT	676	broad.mit.edu	37	1	92446276	92446276	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92446276C>A	ENST00000370389.2	+	9	2069	c.1145C>A	c.(1144-1146)tCt>tAt	p.S382Y	BRDT_ENST00000394530.3_Missense_Mutation_p.S409Y|BRDT_ENST00000399546.2_Missense_Mutation_p.S455Y|BRDT_ENST00000402388.1_Missense_Mutation_p.S455Y|BRDT_ENST00000362005.3_Missense_Mutation_p.S455Y	NM_001242810.1	NP_001229739	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AAAGAGAAGTCTAAAAAGGAA	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	50	48			NA	NA	1		NA											NA				92446276		2200	4295	6495	SO:0001583	missense			AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948	676	676			1105	protein-coding gene	gene with protein product	cancer/testis antigen 9	602144			NA	9367677	Standard	NM_207189	NM_001726	NA	Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000370389.2:c.1145C>A	1.37:g.92446276C>A	ENSP00000359416:p.Ser382Tyr	NA	O14789|Q6P5T1|Q7Z4A6|Q8IWI6	37	CCDS55616.1	.	.	.	.	.	.	.	.	.	.	C	7.522	0.656878	0.14580	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000394530;ENST00000426141;ENST00000402388	T;T;T;T;T;T	0.12569	2.67;2.67;2.67;2.67;2.67;2.67	5.8	4.89	0.63831	.	0.810877	0.10944	N	0.616858	T	0.08268	0.0206	L	0.51422	1.61	0.26267	N	0.978481	P;P;B;P	0.48162	0.906;0.906;0.048;0.906	P;P;B;P	0.44732	0.459;0.459;0.024;0.459	T	0.21314	-1.0249	10	0.72032	D	0.01	-0.1534	9.7956	0.40733	0.1389:0.7913:0.0:0.0698	.	409;409;459;455	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	Y	455;382;455;455;409;455;455	ENSP00000354568:S455Y;ENSP00000359416:S382Y;ENSP00000387822:S455Y;ENSP00000378038:S409Y;ENSP00000404969:S455Y;ENSP00000384051:S455Y	ENSP00000354568:S455Y	S	+	2	0	BRDT	92218864	0.994000	0.37717	0.097000	0.21041	0.118000	0.20060	2.258000	0.43249	1.457000	0.47850	0.650000	0.86243	TCT	BRDT-002	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000027981.2		+	ENST00000370389.2	Missense_Mutation	SNP	1 : 92446276 - 92446276 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	195	23
GCN1L1	10985	broad.mit.edu	37	12	120568522	120568522	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120568522G>A	ENST00000300648.6	-	56	7611	c.7599C>T	c.(7597-7599)ggC>ggT	p.G2533G		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2533					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCATGAGAAAGCCCATGCCCC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	60	59			NA	NA	12		NA											NA				120568522		1956	4133	6089	SO:0001819	synonymous_variant			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28				10985	10985			4199	protein-coding gene	gene with protein product		605614	GCN1 (general control of amino-acid synthesis 1, yeast)-like 1		NA	9234705	Standard		NM_006836	NA	Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.7599C>T	12.37:g.120568522G>A		NA	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	37	CCDS41847.1																																																																																			GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403592.1		-	ENST00000300648.6	Silent	SNP	12 : 120568522 - 120568522 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	287	41
MASP1	5648	broad.mit.edu	37	3	186953477	186953477	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186953477G>A	ENST00000392472.2	-	10	2294	c.1843C>T	c.(1843-1845)Cgg>Tgg	p.R615W	MASP1_ENST00000337774.5_Intron|MASP1_ENST00000296280.6_Missense_Mutation_p.R728W			P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	0	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TCAGCTCACCGTTCCACCTGG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	76	80			NA	NA	3		NA											NA				186953477		2203	4300	6503	SO:0001583	missense			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241	5648	5648		Serine peptidases / Serine peptidases	6901	protein-coding gene	gene with protein product		600521	mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)	CRARF, PRSS5	NA	8018603, 8240317	Standard	NM_001879	NR_033519	NA	Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000392472.2:c.1843C>T	3.37:g.186953477G>A	ENSP00000376264:p.Arg615Trp	NA	A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	37		.	.	.	.	.	.	.	.	.	.	G	15.17	2.755415	0.49362	.	.	ENSG00000127241	ENST00000296280;ENST00000392472;ENST00000541811	D;D	0.83250	-1.68;-1.7	6.16	5.29	0.74685	.	0.376195	0.22804	N	0.055430	T	0.79604	0.4474	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72625	0.978;0.978	T	0.80167	-0.1495	10	0.87932	D	0	.	7.4791	0.27393	0.0809:0.0:0.7417:0.1774	.	615;728	P48740-4;P48740-2	.;.	W	728;615;82	ENSP00000296280:R728W;ENSP00000376264:R615W	ENSP00000296280:R728W	R	-	1	2	MASP1	188436171	1.000000	0.71417	1.000000	0.80357	0.444000	0.32077	3.036000	0.49767	2.937000	0.99478	0.650000	0.86243	CGG	MASP1-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000344266.2		-	ENST00000392472.2	Missense_Mutation	SNP	3 : 186953477 - 186953477 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	363	72
HUWE1	10075	broad.mit.edu	37	X	53674485	53674485	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53674485G>A	ENST00000342160.3	-	5	634	c.177C>T	c.(175-177)gaC>gaT	p.D59D	HUWE1_ENST00000218328.8_Silent_p.D59D|HUWE1_ENST00000262854.6_Silent_p.D59D			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	59					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CATCGAAGCGGTCCAACAGGT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													173	155	161			NA	NA	X		NA											NA				53674485		2203	4300	6503	SO:0001819	synonymous_variant			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758	10075	10075			30892	protein-coding gene	gene with protein product		300697	HECT, UBA and WWE domain containing 1		NA	9205841, 10998601	Standard	XM_497119	NM_031407	NA	Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.177C>T	X.37:g.53674485G>A		NA	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	37	CCDS35301.1																																																																																			HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056766.1		-	ENST00000342160.3	Silent	SNP	X : 53674485 - 53674485 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	496	140
KCNJ12	3768	broad.mit.edu	37	17	21319300	21319300	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:21319300G>T	ENST00000583088.1	+	3	1541	c.646G>T	c.(646-648)Ggt>Tgt	p.G216C	KCNJ12_ENST00000331718.5_Missense_Mutation_p.G216C	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12	NA										NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GTGGCGTGTGGGTAACCTGCG	0.642		NA								Prostate(3;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	72	77			NA	NA	17		NA											NA				21319300		2203	4300	6503	SO:0001583	missense			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185	3768	3768		Potassium channels, Voltage-gated ion channels / Potassium channels, Inwardly rectifying	6258	protein-coding gene	gene with protein product		602323	potassium inwardly-rectifying channel, subfamily J, inhibitor 1	KCNJN1	NA	7859381, 12417321, 16382105	Standard	NM_021012	NM_021012	NA	Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.646G>T	17.37:g.21319300G>T	ENSP00000463778:p.Gly216Cys	NA		37	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383461	0.82792	.	.	ENSG00000184185	ENST00000331718	D	0.95622	-3.76	5.32	5.32	0.75619	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.97607	0.9216	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98276	1.0506	10	0.87932	D	0	.	18.9979	0.92821	0.0:0.0:1.0:0.0	.	216	Q14500	IRK12_HUMAN	C	216	ENSP00000328150:G216C	ENSP00000328150:G216C	G	+	1	0	KCNJ12	21259893	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.690000	0.98676	2.496000	0.84212	0.655000	0.94253	GGT	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255060.2		+	ENST00000583088.1	Missense_Mutation	SNP	17 : 21319300 - 21319300 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	428	33
LRRCC1	85444	broad.mit.edu	37	8	86042196	86042196	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86042196G>A	ENST00000414626.2	+	10	2498	c.1609G>A	c.(1609-1611)Gat>Aat	p.D537N	LRRCC1_ENST00000360375.3_Missense_Mutation_p.D557N			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	557					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TTCAGCTGCCGATAGAGAAAT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	96	94			NA	NA	8		NA											NA				86042196		1834	4087	5921	SO:0001583	missense			BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739	85444	85444			29373	protein-coding gene	gene with protein product	centrosomal leucine-rich repeat and coiled-coil containing protein, variable number of flagella 1 homolog (Chlamydomonas)		leucine rich repeat and coiled-coil domain containing 1		NA	11214970, 18728398	Standard	NM_033402	NM_033402	NA	Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000414626.2:c.1609G>A	8.37:g.86042196G>A	ENSP00000394695:p.Asp537Asn	NA	B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.94|15.94	2.982000|2.982000	0.53827|0.53827	.|.	.|.	ENSG00000133739|ENSG00000133739	ENST00000360375;ENST00000414626|ENST00000426019	T;T|.	0.30981|.	1.51;1.51|.	5.21|5.21	4.33|4.33	0.51752|0.51752	.|.	0.000000|.	0.37348|.	N|.	0.002140|.	T|T	0.39306|0.39306	0.1073|0.1073	L|L	0.29908|0.29908	0.895|0.895	0.28037|0.28037	N|N	0.93392|0.93392	D;P;D;P|.	0.62365|.	0.974;0.954;0.991;0.743|.	B;B;P;B|.	0.46299|.	0.288;0.441;0.511;0.08|.	T|T	0.36529|0.36529	-0.9744|-0.9744	10|6	0.48119|0.87932	T|D	0.1|0	-23.6791|-23.6791	11.1003|11.1003	0.48170|0.48170	0.0:0.1393:0.7159:0.1448|0.0:0.1393:0.7159:0.1448	.|.	464;537;464;557|.	B4DV06;Q9C099-2;E9PE41;Q9C099|.	.;.;.;LRCC1_HUMAN|.	N|Q	557;537|276	ENSP00000353538:D557N;ENSP00000394695:D537N|.	ENSP00000353538:D557N|ENSP00000400370:R276Q	D|R	+|+	1|2	0|0	LRRCC1|LRRCC1	86229448|86229448	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.979000|0.979000	0.70002|0.70002	3.832000|3.832000	0.55783|0.55783	1.318000|1.318000	0.45170|0.45170	0.655000|0.655000	0.94253|0.94253	GAT|CGA	LRRCC1-006	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000380272.1		+	ENST00000414626.2	Missense_Mutation	SNP	8 : 86042196 - 86042196 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	570	47
POU3F2	5454	broad.mit.edu	37	6	99283976	99283976	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99283976G>T	ENST00000328345.5	+	1	1397	c.1227G>T	c.(1225-1227)gaG>gaT	p.E409D		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	409					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		GACAGAAAGAGAAAAGGATGA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	64	60			NA	NA	6		NA											NA				99283976		2203	4300	6503	SO:0001583	missense			Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486	5454	5454		Homeoboxes / POU class	9215	protein-coding gene	gene with protein product		600494	POU domain class 3, transcription factor 2	OTF7	NA	8441633	Standard		NM_005604	NA	Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.1227G>T	6.37:g.99283976G>T	ENSP00000329170:p.Glu409Asp	NA	Q14960|Q86V54|Q9UJL0	37	CCDS5040.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727850	0.69074	.	.	ENSG00000184486	ENST00000328345;ENST00000425116	D	0.96522	-4.04	4.51	4.51	0.55191	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.64402	U	0.000003	D	0.96191	0.8758	L	0.58925	1.835	0.80722	D	1	D	0.59767	0.986	P	0.55391	0.775	D	0.96662	0.9490	10	0.87932	D	0	.	16.1405	0.81519	0.0:0.0:1.0:0.0	.	409	P20265	PO3F2_HUMAN	D	409;342	ENSP00000329170:E409D	ENSP00000329170:E409D	E	+	3	2	POU3F2	99390697	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.519000	0.67074	2.330000	0.79161	0.555000	0.69702	GAG	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041586.2		+	ENST00000328345.5	Missense_Mutation	SNP	6 : 99283976 - 99283976 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	563	86
FZD1	8321	broad.mit.edu	37	7	90895465	90895465	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:90895465T>C	ENST00000287934.2	+	1	1683	c.1270T>C	c.(1270-1272)Tcg>Ccg	p.S424P		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	424					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GGTGATCCTGTCGCTCACCTG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	81	83			NA	NA	7		NA											NA				90895465		2203	4300	6503	SO:0001583	missense			AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240	8321	8321		GPCR / Class F : Frizzled receptors	4038	protein-coding gene	gene with protein product	Wnt receptor, frizzled, Drosophila, homolog of, 1	603408	frizzled (Drosophila) homolog 1, frizzled homolog 1 (Drosophila), frizzled 1, seven transmembrane spanning receptor, frizzled family receptor 1		NA	9813155	Standard	NM_003505	NM_003505	NA	Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1270T>C	7.37:g.90895465T>C	ENSP00000287934:p.Ser424Pro	NA	A4D1E8|O94815|Q549T8	37	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	T	15.65	2.897069	0.52121	.	.	ENSG00000157240	ENST00000287934	D	0.83837	-1.77	4.46	4.46	0.54185	GPCR, family 2-like (1);	0.000000	0.50627	D	0.000112	D	0.90421	0.7001	M	0.87971	2.92	0.44789	D	0.997797	D	0.57257	0.979	P	0.59825	0.864	D	0.92270	0.5824	10	0.87932	D	0	.	13.8883	0.63721	0.0:0.0:0.0:1.0	.	424	Q9UP38	FZD1_HUMAN	P	424	ENSP00000287934:S424P	ENSP00000287934:S424P	S	+	1	0	FZD1	90733401	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.925000	0.48884	1.877000	0.54381	0.334000	0.21626	TCG	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059367.2		+	ENST00000287934.2	Missense_Mutation	SNP	7 : 90895465 - 90895465 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	383	27
ARHGEF26	26084	broad.mit.edu	37	3	153973185	153973185	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:153973185G>A	ENST00000356448.4	+	15	2823	c.2539G>A	c.(2539-2541)Gag>Aag	p.E847K	ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.E847K|ARHGEF26_ENST00000483068.1_3'UTR	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	847	SH3.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						ATGTGCCAAGGAGATAACATG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)							NA				0													154	150	152			NA	NA	3		NA											NA				153973185		1967	4149	6116	SO:0001583	missense			BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790	26084	26084		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	24490	protein-coding gene	gene with protein product	Src homology 3 domain-containing guanine nucleotide exchange factor				NA	15133129, 12697679	Standard	NM_015595	NM_015595	NA	Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.2539G>A	3.37:g.153973185G>A	ENSP00000348828:p.Glu847Lys	NA	Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	37	CCDS46938.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.776685	0.90195	.	.	ENSG00000114790	ENST00000356448;ENST00000465093	T;T	0.31247	1.5;1.5	5.91	5.91	0.95273	Src homology-3 domain (3);	0.169745	0.52532	D	0.000066	T	0.37265	0.0997	L	0.49126	1.545	0.80722	D	1	D	0.56521	0.976	P	0.47206	0.541	T	0.02411	-1.1163	10	0.21014	T	0.42	-38.2716	19.8936	0.96942	0.0:0.0:1.0:0.0	.	847	Q96DR7	ARHGQ_HUMAN	K	847	ENSP00000348828:E847K;ENSP00000423418:E847K	ENSP00000348828:E847K	E	+	1	0	ARHGEF26	155455879	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.462000	0.66707	2.793000	0.96121	0.655000	0.94253	GAG	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353287.3		+	ENST00000356448.4	Missense_Mutation	SNP	3 : 153973185 - 153973185 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	376	42
ACVRL1	94	broad.mit.edu	37	12	52309191	52309191	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52309191G>A	ENST00000419526.2	+	3	495	c.433G>A	c.(433-435)Ggt>Agt	p.G145S	ACVRL1_ENST00000550683.1_Missense_Mutation_p.G333S|ACVRL1_ENST00000388922.4_Missense_Mutation_p.G319S			P37023	ACVL1_HUMAN	activin A receptor type II-like 1	319					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GGAGATCTTCGGTACACAGGG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	45	47			NA	NA	12		NA											NA				52309191		2203	4300	6503	SO:0001583	missense			L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567	94	94			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2	NA	8397373, 8640225	Standard		NM_000020	NA	Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000419526.2:c.433G>A	12.37:g.52309191G>A	ENSP00000392492:p.Gly145Ser	NA	A6NGA8	37		.	.	.	.	.	.	.	.	.	.	G	23.6	4.436485	0.83885	.	.	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000550683;ENST00000548659;ENST00000419526	D;D;D	0.93247	-3.19;-3.19;-3.19	5.09	5.09	0.68999	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45867	D	0.000327	D	0.96648	0.8906	M	0.84511	2.7	0.58432	D	0.999993	D;D	0.64830	0.984;0.994	D;D	0.63113	0.911;0.911	D	0.96101	0.9069	10	0.46703	T	0.11	.	18.6856	0.91562	0.0:0.0:1.0:0.0	.	145;319	E7EN07;P37023	.;ACVL1_HUMAN	S	319;319;333;145;145	ENSP00000373574:G319S;ENSP00000447884:G333S;ENSP00000392492:G145S	ENSP00000267008:G319S	G	+	1	0	ACVRL1	50595458	0.999000	0.42202	0.969000	0.41365	0.921000	0.55340	3.458000	0.53014	2.826000	0.97356	0.563000	0.77884	GGT	ACVRL1-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000404524.1		+	ENST00000419526.2	Missense_Mutation	SNP	12 : 52309191 - 52309191 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	280	57
CASP9	842	broad.mit.edu	37	1	15832565	15832565	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15832565G>T	ENST00000546424.1	-	5	884	c.640C>A	c.(640-642)Ctg>Atg	p.L214M	CASP9_ENST00000348549.5_Intron|CASP9_ENST00000375890.4_Missense_Mutation_p.L131M|CASP9_ENST00000333868.5_Missense_Mutation_p.L214M			P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	214					activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		AGCAAAGCCAGCACCATTTTC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	62	62			NA	NA	1		NA											NA				15832565		2203	4300	6503	SO:0001583	missense			U60521	CCDS158.1, CCDS159.1, CCDS159.2, CCDS59995.1	1p36.21	2012-04-17	2005-08-17		ENSG00000132906	ENSG00000132906	842	842		Caspases, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	1511	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 56	602234	caspase 9, apoptosis-related cysteine protease		NA	8663294, 9390557	Standard	NM_032996	NM_001229	NA	Approved	MCH6, ICE-LAP6, APAF-3, PPP1R56	uc001awn.4	P55211	OTTHUMG00000002256	ENST00000546424.1:c.640C>A	1.37:g.15832565G>T	ENSP00000449584:p.Leu214Met	NA	O95348|Q53Y70|Q5JRU9|Q92852|Q9BQ62|Q9UEQ3|Q9UIJ8	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.46|13.46	2.244376|2.244376	0.39697|0.39697	.|.	.|.	ENSG00000132906|ENSG00000132906	ENST00000424908|ENST00000546424;ENST00000333868;ENST00000375874;ENST00000375890;ENST00000447522	.|T;T;T;T	.|0.20463	.|2.07;2.07;2.07;2.07	5.1|5.1	1.91|1.91	0.25777|0.25777	.|Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	.|2.094920	.|0.01550	.|N	.|0.019639	T|T	0.32315|0.32315	0.0825|0.0825	L|L	0.46819|0.46819	1.47|1.47	0.09310|0.09310	N|N	1|1	.|P;P	.|0.44478	.|0.774;0.836	.|P;P	.|0.52217	.|0.637;0.693	T|T	0.17018|0.17018	-1.0383|-1.0383	5|10	.|0.48119	.|T	.|0.1	.|.	6.7094|6.7094	0.23268|0.23268	0.0:0.1671:0.4634:0.3695|0.0:0.1671:0.4634:0.3695	.|.	.|214;214	.|P55211;F8VVS7	.|CASP9_HUMAN;.	D|M	55|214;214;58;131;131	.|ENSP00000449584:L214M;ENSP00000330237:L214M;ENSP00000365051:L131M;ENSP00000396540:L131M	.|ENSP00000330237:L214M	A|L	-|-	2|1	0|2	CASP9|CASP9	15705152|15705152	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.015000|0.015000	0.08874|0.08874	-0.298000|-0.298000	0.08265|0.08265	1.198000|1.198000	0.43158|0.43158	0.655000|0.655000	0.94253|0.94253	GCT|CTG	CASP9-009	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000407260.1		-	ENST00000546424.1	Missense_Mutation	SNP	1 : 15832565 - 15832565 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	10
UROS	7390	broad.mit.edu	37	10	127503679	127503679	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127503679G>A	ENST00000368778.3	-	4	361	c.168C>T	c.(166-168)taC>taT	p.Y56Y	UROS_ENST00000368774.1_Silent_p.Y56Y|UROS_ENST00000368786.1_Silent_p.Y56Y|UROS_ENST00000368797.4_Silent_p.Y56Y			P10746	HEM4_HUMAN	uroporphyrinogen III synthase	56					heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				TGAGTCCCCCGTAATCTTCAG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	85	85			NA	NA	10		NA											NA				127503679		2203	4300	6503	SO:0001819	synonymous_variant			J03824	CCDS7648.1	10q25.2-q26.3	2008-07-31	2008-07-31		ENSG00000188690	ENSG00000188690	7390	7390	4.2.1.75		12592	protein-coding gene	gene with protein product	congenital erythropoietic porphyria	606938			NA	2037278	Standard	NM_000375	NM_000375	NA	Approved		uc001lix.4	P10746	OTTHUMG00000019236	ENST00000368778.3:c.168C>T	10.37:g.127503679G>A		NA	B2RC13|D3DRF7|Q9H2T1	37																																																																																				UROS-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000050931.1		-	ENST00000368778.3	Silent	SNP	10 : 127503679 - 127503679 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	223	32
PTK7	5754	broad.mit.edu	37	6	43097480	43097480	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43097480C>A	ENST00000230419.4	+	3	604	c.383C>A	c.(382-384)cCt>cAt	p.P128H	PTK7_ENST00000352931.2_Missense_Mutation_p.P128H|PTK7_ENST00000349241.2_Missense_Mutation_p.P128H|PTK7_ENST00000481273.1_Missense_Mutation_p.P136H|PTK7_ENST00000345201.2_Missense_Mutation_p.P128H|PTK7_ENST00000471863.1_Missense_Mutation_p.P128H	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	128	Ig-like C2-type 2.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GAGGCAGGTCCTGTGGTCCTG	0.612		NA									OREG0017449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	74	78			NA	NA	6		NA											NA				43097480		2203	4300	6503	SO:0001583	missense			AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	NA	5754	2.7.10.1	Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	9618	protein-coding gene	gene with protein product		601890	PTK7 protein tyrosine kinase 7		NA	7478540	Standard		NM_002821	NA	Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.383C>A	6.37:g.43097480C>A	ENSP00000230419:p.Pro128His	913	A8K974|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	37	CCDS4884.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068967	0.76301	.	.	ENSG00000112655	ENST00000230419;ENST00000471863;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273;ENST00000419972	T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6	5.53	5.53	0.82687	Immunoglobulin-like (1);	0.279534	0.39146	N	0.001457	T	0.70815	0.3267	M	0.89968	3.075	0.30688	N	0.751661	B;D;P;D;D;D	0.89917	0.116;0.993;0.94;0.978;0.973;1.0	B;P;P;P;P;D	0.80764	0.063;0.854;0.717;0.854;0.852;0.994	T	0.73503	-0.3962	10	0.72032	D	0.01	.	14.0021	0.64439	0.0:0.7268:0.2732:0.0	.	136;128;128;128;128;128	E9PFZ5;Q13308-3;Q13308-2;Q13308-4;Q13308;Q86X91	.;.;.;.;PTK7_HUMAN;.	H	128;128;128;128;128;136;136	ENSP00000230419:P128H;ENSP00000419037:P128H;ENSP00000325462:P128H;ENSP00000326029:P128H;ENSP00000325992:P128H;ENSP00000418754:P136H	ENSP00000230418:P128H	P	+	2	0	PTK7	43205458	0.011000	0.17503	0.996000	0.52242	0.989000	0.77384	1.593000	0.36686	2.596000	0.87737	0.462000	0.41574	CCT	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040580.2		+	ENST00000230419.4	Missense_Mutation	SNP	6 : 43097480 - 43097480 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	50
CDC25B	994	broad.mit.edu	37	20	3785572	3785572	+	Silent	SNP	C	C	T	rs514521		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3785572C>T	ENST00000245960.5	+	16	2404	c.1707C>T	c.(1705-1707)agC>agT	p.S569S	CDC25B_ENST00000340833.4_Silent_p.S528S|CDC25B_ENST00000379598.5_Silent_p.S478S|CDC25B_ENST00000344256.6_Silent_p.S505S|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000439880.2_Silent_p.S555S	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	569					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						GGGAGCGGAGCCGGCGGGAGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	46	45			NA	NA	20		NA											NA				3785572		2203	4300	6503	SO:0001819	synonymous_variant				CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224	994	994		Protein tyrosine phosphatases / Class III Cys-based PTPs	1726	protein-coding gene	gene with protein product		116949	cell division cycle 25B, cell division cycle 25 homolog B (S. cerevisiae), cell division cycle 25 homolog B (S. pombe)		NA	1836978	Standard	NM_021874	NM_021873	NA	Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.1707C>T	20.37:g.3785572C>T		NA	D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	37	CCDS13067.1																																																																																			CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077779.2		+	ENST00000245960.5	Silent	SNP	20 : 3785572 - 3785572 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	514	72
LRRC7	57554	broad.mit.edu	37	1	70541910	70541910	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70541910C>A	ENST00000310961.5	+	24	4559	c.4141C>A	c.(4141-4143)Cgg>Agg	p.R1381R	LRRC7_ENST00000035383.5_Silent_p.R1423R|LRRC7_ENST00000415775.2_Silent_p.R707R			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1423						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACAGGCCACCCGGGGACCTCA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	83	83			NA	NA	1		NA											NA				70541910		2203	4300	6503	SO:0001819	synonymous_variant				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122	57554	57554			18531	protein-coding gene	gene with protein product		614453			NA	12525888	Standard	NM_020794	NM_020794	NA	Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000310961.5:c.4141C>A	1.37:g.70541910C>A		NA	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	37																																																																																				LRRC7-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000131262.2		+	ENST00000310961.5	Silent	SNP	1 : 70541910 - 70541910 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	440	18
PDS5A	23244	broad.mit.edu	37	4	39839590	39839590	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39839590G>A	ENST00000303538.8	-	32	4435	c.3896C>T	c.(3895-3897)gCt>gTt	p.A1299V		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	1299					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ACCCACTGCAGCTCTCTTCCT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	98	98			NA	NA	4		NA											NA				39839590		1900	4117	6017	SO:0001583	missense			AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892	23244	23244			29088	protein-coding gene	gene with protein product		613200			NA	11076961, 15855230	Standard	NM_015200	NM_001100399	NA	Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.3896C>T	4.37:g.39839590G>A	ENSP00000303427:p.Ala1299Val	NA	Q2TTR5|Q68DF7|Q8N7J4|Q8NG14|Q9Y4D4	37	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705450	0.48412	.	.	ENSG00000121892	ENST00000303538	.	.	.	5.31	3.52	0.40303	.	0.116081	0.56097	D	0.000023	T	0.40067	0.1102	N	0.24115	0.695	0.80722	D	1	P	0.44816	0.844	B	0.44278	0.445	T	0.08289	-1.0729	8	.	.	.	0.0019	10.4171	0.44329	0.073:0.135:0.792:0.0	.	1299	Q29RF7	PDS5A_HUMAN	V	1299	.	.	A	-	2	0	PDS5A	39515985	0.998000	0.40836	0.426000	0.26672	0.005000	0.04900	2.952000	0.49097	0.567000	0.29293	0.655000	0.94253	GCT	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361287.1		-	ENST00000303538.8	Missense_Mutation	SNP	4 : 39839590 - 39839590 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	241	49
COL1A1	1277	broad.mit.edu	37	17	48264896	48264896	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48264896G>T	ENST00000225964.5	-	46	3490	c.3372C>A	c.(3370-3372)ggC>ggA	p.G1124G		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1124	Triple-helical region.		G -> C (in OI2A).		axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CACCAGGAGAGCCCTGAAGGA	0.587		NA	T	PDGFB, USP6	dermatofibrosarcoma protuberans, aneurysmal bone cyst 		Osteogenesis imperfecta							NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		17	17q21.31-q22	1277	collagen, type I, alpha 1	yes	M	0													62	56	58			NA	NA	17		NA											NA				48264896		2203	4300	6503	SO:0001819	synonymous_variant			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821	1277	1277		Collagens	2197	protein-coding gene	gene with protein product		120150			NA	3178743, 2857713	Standard		NM_000088	NA	Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.3372C>A	17.37:g.48264896G>T		NA	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	37	CCDS11561.1																																																																																			COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000309036.2		-	ENST00000225964.5	Silent	SNP	17 : 48264896 - 48264896 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	196	32
NAT2	10	broad.mit.edu	37	8	18258174	18258174	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:18258174T>G	ENST00000286479.3	+	2	768	c.661T>G	c.(661-663)Tca>Gca	p.S221A	NAT2_ENST00000520116.1_Missense_Mutation_p.S91A	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	221					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		TATAACCACATCATTTTGTTC	0.368		NA							Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	87	85			NA	NA	8		NA											NA				18258174		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	incl.: Familial Head and Neck Cancer	D90042	CCDS6008.1	8p22	2012-01-18			ENSG00000156006	ENSG00000156006	10	10	2.3.1.5		7646	protein-coding gene	gene with protein product		612182		AAC2	NA	7773298	Standard	NM_000015	NM_000015	NA	Approved		uc003wyw.1	P11245	OTTHUMG00000130826	ENST00000286479.3:c.661T>G	8.37:g.18258174T>G	ENSP00000286479:p.Ser221Ala	NA	O43637|O60654|O60655|Q13146|Q16697|Q2MLE4|Q2MLF5|Q2MLG8|Q2MLJ6|Q2MLK4|Q2MLK6|Q2MLN7|Q6LET4|Q86XS0|Q86XS1|Q96KY8|Q96T64|Q96T65|Q9H220	37	CCDS6008.1	.	.	.	.	.	.	.	.	.	.	T	9.220	1.033049	0.19590	.	.	ENSG00000156006	ENST00000286479;ENST00000520116	T;T	0.01767	4.65;4.65	2.67	2.67	0.31697	.	0.000000	0.85682	D	0.000000	T	0.10637	0.0260	M	0.91972	3.26	0.23747	N	0.996957	D	0.76494	0.999	D	0.81914	0.995	T	0.02275	-1.1184	10	0.62326	D	0.03	.	7.2032	0.25893	0.0:0.0:0.0:1.0	.	221	A4Z6T7	.	A	221;91	ENSP00000286479:S221A;ENSP00000428416:S91A	ENSP00000286479:S221A	S	+	1	0	NAT2	18302454	1.000000	0.71417	0.020000	0.16555	0.098000	0.18820	3.553000	0.53713	1.462000	0.47948	0.358000	0.22013	TCA	NAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253380.1		+	ENST00000286479.3	Missense_Mutation	SNP	8 : 18258174 - 18258174 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	533	95
SLITRK5	26050	broad.mit.edu	37	13	88328479	88328479	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:88328479C>A	ENST00000325089.6	+	2	1055	c.836C>A	c.(835-837)tCc>tAc	p.S279Y	SLITRK5_ENST00000400028.3_Missense_Mutation_p.S38Y	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	279	LRRCT 1.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GACGAGGTATCCAAGCAGGAA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	82	81			NA	NA	13		NA											NA				88328479		2203	4300	6503	SO:0001583	missense			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300	26050	26050			20295	protein-coding gene	gene with protein product		609680	leucine rich repeat containing 11	LRRC11	NA	10048485, 14557068	Standard		NM_015567	NA	Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.836C>A	13.37:g.88328479C>A	ENSP00000366283:p.Ser279Tyr	NA	B3KNB8|Q5VT81	37	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230717	0.58777	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.57107	0.42;0.42	5.76	5.76	0.90799	Cysteine-rich flanking region, C-terminal (1);	0.059456	0.64402	D	0.000002	T	0.68641	0.3023	M	0.64567	1.98	0.54753	D	0.999983	D;D	0.64830	0.994;0.988	P;D	0.64042	0.885;0.921	T	0.66412	-0.5930	9	.	.	.	-10.8497	17.464	0.87627	0.0:1.0:0.0:0.0	.	38;279	B4DSH5;O94991	.;SLIK5_HUMAN	Y	279;38	ENSP00000366283:S279Y;ENSP00000442244:S38Y	.	S	+	2	0	SLITRK5	87126480	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.765000	0.68834	2.724000	0.93272	0.491000	0.48974	TCC	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045416.3		+	ENST00000325089.6	Missense_Mutation	SNP	13 : 88328479 - 88328479 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	593	110
STAT6	6778	broad.mit.edu	37	12	57499303	57499303	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57499303G>A	ENST00000537215.2	-	7	874	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	STAT6_ENST00000538913.2_Missense_Mutation_p.R144W|STAT6_ENST00000556155.1_Missense_Mutation_p.R254W|STAT6_ENST00000543873.2_Missense_Mutation_p.R254W|STAT6_ENST00000454075.3_Missense_Mutation_p.R254W|STAT6_ENST00000300134.3_Missense_Mutation_p.R254W	NM_001178080.1	NP_001171551.1	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	254					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						AGCGATGCCCGGGTCTTGGGC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	48	46			NA	NA	12		NA											NA				57499303		2203	4300	6503	SO:0001583	missense			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888	6778	6778		SH2 domain containing	11368	protein-coding gene	gene with protein product		601512			NA	9605853, 8085155	Standard	NM_003153	NM_003153	NA	Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000537215.2:c.430C>T	12.37:g.57499303G>A	ENSP00000444530:p.Arg144Trp	NA	A8K316|Q5FBW5|Q71UP4	37	CCDS53804.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.039745	0.35989	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516	T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06;0.06	5.19	3.33	0.38152	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.207808	0.33515	N	0.004828	T	0.55337	0.1914	N	0.22421	0.69	0.37815	D	0.928196	D;D	0.69078	0.997;0.983	P;P	0.54815	0.761;0.545	T	0.60311	-0.7288	10	0.72032	D	0.01	-18.7629	6.2986	0.21099	0.0923:0.0:0.7261:0.1816	.	254;254	A8K4S9;P42226	.;STAT6_HUMAN	W	254;144;144;254;254;144;254;144;254	ENSP00000300134:R254W;ENSP00000445409:R144W;ENSP00000438451:R254W;ENSP00000451742:R254W;ENSP00000444530:R144W;ENSP00000401486:R254W	ENSP00000300134:R254W	R	-	1	2	STAT6	55785570	0.990000	0.36364	1.000000	0.80357	0.005000	0.04900	2.916000	0.48813	0.749000	0.32854	-0.140000	0.14226	CGG	STAT6-006	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412254.1		-	ENST00000537215.2	Missense_Mutation	SNP	12 : 57499303 - 57499303 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	206	34
AMBRA1	55626	broad.mit.edu	37	11	46430125	46430125	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46430125G>A	ENST00000458649.2	-	17	3759	c.3341C>T	c.(3340-3342)gCc>gTc	p.A1114V	AMBRA1_ENST00000426438.1_Missense_Mutation_p.A1085V|AMBRA1_ENST00000528950.1_Missense_Mutation_p.A1085V|AMBRA1_ENST00000534300.1_Missense_Mutation_p.A1054V|AMBRA1_ENST00000314845.3_Missense_Mutation_p.A1024V|AMBRA1_ENST00000533727.1_Missense_Mutation_p.A995V|AMBRA1_ENST00000298834.3_Missense_Mutation_p.A1054V			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1114					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CTGTGTTTCGGCATTCTGCAG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	63	66			NA	NA	11		NA											NA				46430125		2202	4299	6501	SO:0001583	missense			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497	55626	55626		WD repeat domain containing, DDB1 and CUL4 associated factors	25990	protein-coding gene	gene with protein product	WD repeat domain 94, DDB1 and CUL4 associated factor 3	611359			NA	17622796, 17603510, 17589504	Standard	NM_017749	NM_001267782	NA	Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.3341C>T	11.37:g.46430125G>A	ENSP00000415327:p.Ala1114Val	NA	A6XN33|D3DQP8|Q86XD6|Q9H8Z0|Q9NXE7	37		.	.	.	.	.	.	.	.	.	.	G	35	5.524635	0.96431	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000458649;ENST00000526545;ENST00000528950	T;T;T;T;T;T;T	0.80123	-1.31;-1.34;-1.02;-1.13;-1.02;-1.16;-1.13	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.85703	0.5758	L	0.32530	0.975	0.58432	D	0.999999	D;D;D;D;D;D	0.71674	0.993;0.996;0.996;0.996;0.998;0.996	D;D;D;D;D;D	0.80764	0.978;0.99;0.99;0.99;0.994;0.99	D	0.87026	0.2132	10	0.87932	D	0	.	19.4943	0.95065	0.0:0.0:1.0:0.0	.	1114;1085;1054;995;1117;1024	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	V	1024;995;1054;1085;1054;1114;72;1085	ENSP00000318313:A1024V;ENSP00000433372:A995V;ENSP00000431926:A1054V;ENSP00000410899:A1085V;ENSP00000298834:A1054V;ENSP00000415327:A1114V;ENSP00000433945:A1085V	ENSP00000298834:A1054V	A	-	2	0	AMBRA1	46386701	1.000000	0.71417	0.964000	0.40570	0.987000	0.75469	9.286000	0.95898	2.677000	0.91161	0.491000	0.48974	GCC	AMBRA1-005	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000390103.1		-	ENST00000458649.2	Missense_Mutation	SNP	11 : 46430125 - 46430125 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	238	39
CNBD2	140894	broad.mit.edu	37	20	34572607	34572607	+	Missense_Mutation	SNP	C	C	T	rs138969375	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34572607C>T	ENST00000373973.3	+	6	796	c.623C>T	c.(622-624)aCg>aTg	p.T208M	CNBD2_ENST00000538900.1_Missense_Mutation_p.T208M|CNBD2_ENST00000349339.1_Missense_Mutation_p.T208M					cyclic nucleotide binding domain containing 2	NA											NA						ATGGAAGAAACGGAGTTCCTG	0.502		NA											C	5	0.0023	0.01	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0023	0.9906	LOWCOV,EXOME	NA	NA	0.0011	SNP								NA				0								C	MET/THR,MET/THR	14,4392	21.2+/-45.6	0,14,2189	206	163	177		623,623	4.9	1	20	dbSNP_134	177	0,8600		0,0,4300	yes	missense,missense	C20orf152	NM_001207076.1,NM_080834.2	81,81	0,14,6489	TT,TC,CC	NA	0.0,0.3177,0.1076	probably-damaging,probably-damaging	208/424,208/573	34572607	14,12992	2203	4300	6503	SO:0001583	missense			AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646	140894	140894			16145	protein-coding gene	gene with protein product			chromosome 20 open reading frame 152, cyclic nucleotide (cNMP) binding domain containing 1	C20orf152, CNMPD1	NA	11780052	Standard	NM_080834	NM_080834	NA	Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.623C>T	20.37:g.34572607C>T	ENSP00000363084:p.Thr208Met	NA		37		5	0.0022893772893772895	4	0.008130081300813009	1	0.0027624309392265192	0	0.0	0	0.0	C	21.8	4.205495	0.79127	0.003177	0.0	ENSG00000149646	ENST00000373973;ENST00000349339;ENST00000538900	D;D;D	0.93426	-3.22;-3.22;-3.22	4.91	4.91	0.64330	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.64402	D	0.000001	D	0.95357	0.8493	M	0.81682	2.555	0.45676	D	0.998594	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94873	0.8032	10	0.62326	D	0.03	-17.9995	15.9802	0.80102	0.0:1.0:0.0:0.0	.	208;208	Q96M20;Q96M20-2	CT152_HUMAN;.	M	208	ENSP00000363084:T208M;ENSP00000340954:T208M;ENSP00000442729:T208M	ENSP00000340954:T208M	T	+	2	0	C20orf152	34036021	0.995000	0.38212	0.983000	0.44433	0.935000	0.57460	3.722000	0.54948	2.430000	0.82344	0.655000	0.94253	ACG	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000078960.2		+	ENST00000373973.3	Missense_Mutation	SNP	20 : 34572607 - 34572607 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	522	51
EYS	346007	broad.mit.edu	37	6	66063454	66063454	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:66063454G>T	ENST00000393380.2	-	9	1893	c.1356C>A	c.(1354-1356)taC>taA	p.Y452*	EYS_ENST00000503581.1_Nonsense_Mutation_p.Y452*|EYS_ENST00000370621.3_Nonsense_Mutation_p.Y452*|EYS_ENST00000370616.2_Nonsense_Mutation_p.Y452*|EYS_ENST00000370618.3_Nonsense_Mutation_p.Y452*|EYS_ENST00000342421.5_Nonsense_Mutation_p.Y452*	NM_001142801.1	NP_001136273.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	452					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GATGAATTAGGTAAACATTCT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	105	109			NA	NA	6		NA											NA				66063454		2203	4300	6503	SO:0001587	stop_gained				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107	346007	346007			21555	protein-coding gene	gene with protein product		612424	chromosome 6 open reading frame 180, EGF-like-domain, multiple 11, retinitis pigmentosa 25 (autosomal recessive), EGF-like-domain, multiple 10, chromosome 6 open reading frame 178, chromosome 6 open reading frame 179	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179	NA	18836446, 18976725	Standard	XM_294050	NM_001142800	NA	Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000393380.2:c.1356C>A	6.37:g.66063454G>T	ENSP00000377042:p.Tyr452*	NA	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	37	CCDS47446.1	.	.	.	.	.	.	.	.	.	.	g	36	5.640997	0.96693	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	.	.	.	4.14	3.09	0.35607	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	3.5793	0.07946	0.3058:0.0:0.6942:0.0	.	.	.	.	X	452	.	ENSP00000341818:Y452X	Y	-	3	2	EYS	66120175	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.467000	0.22035	1.855000	0.53841	0.591000	0.81541	TAC	EYS-006	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041109.2		-	ENST00000393380.2	Nonsense_Mutation	SNP	6 : 66063454 - 66063454 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	389	64
MFN1	55669	broad.mit.edu	37	3	179076722	179076722	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179076722G>A	ENST00000471841.1	+	4	469	c.343G>A	c.(343-345)Gtt>Att	p.V115I	MFN1_ENST00000263969.5_Missense_Mutation_p.V115I|MFN1_ENST00000280653.7_Missense_Mutation_p.V115I	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	115					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CTTCCTAAGTGTTGAAGGAAC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	143	147			NA	NA	3		NA											NA				179076722		2203	4300	6503	SO:0001583	missense			AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109	55669	55669			18262	protein-coding gene	gene with protein product		608506			NA	8358434, 11181170	Standard	NM_017927	NM_033540	NA	Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.343G>A	3.37:g.179076722G>A	ENSP00000420617:p.Val115Ile	NA	B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	37	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518764	0.85495	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000467174;ENST00000263969	D;D;D;D	0.96427	-4.01;-4.01;-4.01;-4.01	5.86	5.86	0.93980	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.97801	0.9278	M	0.65677	2.01	0.80722	D	1	D;D	0.89917	0.992;1.0	D;D	0.87578	0.962;0.998	D	0.96458	0.9339	10	0.31617	T	0.26	-21.6062	20.5632	0.99335	0.0:0.0:1.0:0.0	.	143;115	Q4AEJ4;Q8IWA4	.;MFN1_HUMAN	I	115	ENSP00000420617:V115I;ENSP00000280653:V115I;ENSP00000419134:V115I;ENSP00000263969:V115I	ENSP00000263969:V115I	V	+	1	0	MFN1	180559416	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.414000	0.97362	2.937000	0.99478	0.650000	0.86243	GTT	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348654.2		+	ENST00000471841.1	Missense_Mutation	SNP	3 : 179076722 - 179076722 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	436	83
PCDH10	57575	broad.mit.edu	37	4	134073073	134073073	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134073073C>T	ENST00000264360.5	+	1	2604	c.1778C>T	c.(1777-1779)tCg>tTg	p.S593L		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	NA	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTGCCCCGCTCGGCGGAGCCG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	23	22			NA	NA	4		NA											NA				134073073		2081	4169	6250	SO:0001583	missense			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650	57575	57575		Cadherins / Protocadherins : Non-clustered	13404	protein-coding gene	gene with protein product		608286			NA	10835267	Standard	NM_032961	NM_020815	NA	Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1778C>T	4.37:g.134073073C>T	ENSP00000264360:p.Ser593Leu	NA	Q4W5F6	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.829921	0.50845	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.39997	1.05	4.5	4.5	0.54988	Cadherin (2);Cadherin-like (1);	0.000000	0.40144	N	0.001165	T	0.34745	0.0908	L	0.41236	1.265	0.49299	D	0.999777	P;B	0.38455	0.632;0.258	B;B	0.34346	0.18;0.076	T	0.19224	-1.0312	10	0.34782	T	0.22	.	17.0032	0.86386	0.0:1.0:0.0:0.0	.	593;593	Q9P2E7;Q96SF0	PCD10_HUMAN;.	L	593	ENSP00000264360:S593L	ENSP00000264360:S593L	S	+	2	0	PCDH10	134292523	0.000000	0.05858	1.000000	0.80357	0.413000	0.31143	0.592000	0.23984	2.325000	0.78763	0.655000	0.94253	TCG	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364457.2		+	ENST00000264360.5	Missense_Mutation	SNP	4 : 134073073 - 134073073 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	284	71
CACNA1C	775	broad.mit.edu	37	12	2717701	2717701	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2717701C>A	ENST00000399655.1	+	27	3646	c.3381C>A	c.(3379-3381)tcC>tcA	p.S1127S	CACNA1C_ENST00000399629.1_Silent_p.S1127S|CACNA1C_ENST00000344100.3_Silent_p.S1127S|CACNA1C_ENST00000399595.1_Silent_p.S1127S|CACNA1C_ENST00000399649.1_Silent_p.S1127S|CACNA1C_ENST00000399637.1_Silent_p.S1127S|CACNA1C_ENST00000399591.1_Silent_p.S1127S|CACNA1C_ENST00000402845.3_Silent_p.S1127S|CACNA1C_ENST00000399634.1_Silent_p.S1127S|CACNA1C_ENST00000480911.1_Silent_p.S1127S|CACNA1C_ENST00000399597.1_Silent_p.S1127S|CACNA1C_ENST00000327702.7_Silent_p.S1127S|CACNA1C_ENST00000399606.1_Silent_p.S1147S|CACNA1C_ENST00000399621.1_Silent_p.S1127S|CACNA1C_ENST00000406454.3_Silent_p.S1127S|CACNA1C_ENST00000399617.1_Silent_p.S1127S|CACNA1C_ENST00000399603.1_Silent_p.S1127S|CACNA1C_ENST00000399638.1_Silent_p.S1127S|CACNA1C_ENST00000347598.4_Silent_p.S1147S|CACNA1C_ENST00000399601.1_Silent_p.S1127S|CACNA1C_ENST00000399641.1_Silent_p.S1127S|CACNA1C_ENST00000335762.5_Silent_p.S1152S|CACNA1C_ENST00000399644.1_Silent_p.S1127S	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1147	Dihydropyridine binding (By similarity).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCATCGACTCCCACACGGAAG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	63	64			NA	NA	12		NA											NA				2717701		2203	4300	6503	SO:0001819	synonymous_variant			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067	775	775		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1	NA	1650913, 16382099	Standard	NM_000719	NM_001129832	NA	Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000399655.1:c.3381C>A	12.37:g.2717701C>A		NA	B2RUT3|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	37	CCDS44794.1																																																																																			CACNA1C-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317019.2		+	ENST00000399655.1	Silent	SNP	12 : 2717701 - 2717701 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	107	25
SWT1	54823	broad.mit.edu	37	1	185171900	185171900	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:185171900G>T	ENST00000367500.4	+	11	1803	c.1638G>T	c.(1636-1638)caG>caT	p.Q546H	SWT1_ENST00000367501.3_Missense_Mutation_p.Q546H	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	546										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TGTGTCATCAGCCTTGTATTC	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	95	95			NA	NA	1		NA											NA				185171900		2203	4300	6503	SO:0001583	missense			AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668	54823	54823			16785	protein-coding gene	gene with protein product			chromosome 1 open reading frame 26	C1orf26	NA	11318611, 19127978, 23768067	Standard	NM_017673	NM_017673	NA	Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.1638G>T	1.37:g.185171900G>T	ENSP00000356470:p.Gln546His	NA	Q8NEK9|Q9BZQ7|Q9NXQ0	37	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.183600	0.57800	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.19806	2.12;2.12	5.49	2.44	0.29823	.	0.567042	0.19708	N	0.107866	T	0.32102	0.0818	M	0.68317	2.08	0.31268	N	0.692134	D	0.64830	0.994	P	0.59012	0.85	T	0.25641	-1.0126	10	0.38643	T	0.18	.	4.8218	0.13394	0.2525:0.156:0.5915:0.0	.	546	Q5T5J6	SWT1_HUMAN	H	546	ENSP00000356471:Q546H;ENSP00000356470:Q546H	ENSP00000356470:Q546H	Q	+	3	2	SWT1	183438523	0.715000	0.27946	1.000000	0.80357	0.870000	0.49936	0.248000	0.18198	0.815000	0.34398	-0.123000	0.14984	CAG	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085790.1		+	ENST00000367500.4	Missense_Mutation	SNP	1 : 185171900 - 185171900 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	456	20
KCNQ4	9132	broad.mit.edu	37	1	41284339	41284339	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41284339A>G	ENST00000347132.5	+	4	777	c.695A>G	c.(694-696)tAc>tGc	p.Y232C	KCNQ4_ENST00000509682.2_Missense_Mutation_p.Y232C	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	232					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			TCAGTGGTCTACGCGCATAGC	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	13	13			NA	NA	1		NA											NA				41284339		2196	4294	6490	SO:0001583	missense			AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013	9132	9132		Potassium channels, Voltage-gated ion channels / Potassium channels	6298	protein-coding gene	gene with protein product		603537		DFNA2	NA	10025409, 16382104	Standard	NM_004700	NM_004700	NA	Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.695A>G	1.37:g.41284339A>G	ENSP00000262916:p.Tyr232Cys	NA	O96025	37	CCDS456.1	.	.	.	.	.	.	.	.	.	.	A	13.89	2.370694	0.42003	.	.	ENSG00000117013	ENST00000347132;ENST00000509682	D;D	0.98493	-4.96;-4.96	5.04	2.66	0.31614	Ion transport (1);	0.229388	0.37623	N	0.002018	D	0.97430	0.9159	L	0.43646	1.37	0.58432	D	0.99999	B;D	0.69078	0.361;0.997	B;D	0.63113	0.275;0.911	D	0.95141	0.8264	10	0.33940	T	0.23	-8.7373	8.8674	0.35294	0.7028:0.0:0.0:0.2972	.	232;232	P56696-2;P56696	.;KCNQ4_HUMAN	C	232	ENSP00000262916:Y232C;ENSP00000423756:Y232C	ENSP00000262916:Y232C	Y	+	2	0	KCNQ4	41056926	1.000000	0.71417	0.950000	0.38849	0.971000	0.66376	5.921000	0.70028	0.359000	0.24239	0.528000	0.53228	TAC	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000020812.1		+	ENST00000347132.5	Missense_Mutation	SNP	1 : 41284339 - 41284339 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	86	18
IQCF1	132141	broad.mit.edu	37	3	51929102	51929102	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51929102C>T	ENST00000310914.5	-	4	484	c.422G>A	c.(421-423)cGc>cAc	p.R141H		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	141	IQ 2.									central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATAGCGTCTGCGGATGCGCCA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	85	88			NA	NA	3		NA											NA				51929102		2203	4300	6503	SO:0001583	missense			BC029595	CCDS2836.1	3p21.31	2008-02-05			ENSG00000173389	ENSG00000173389	132141	132141			28607	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152397	NM_152397	NA	Approved	MGC39725	uc003dbv.3	Q8N6M8	OTTHUMG00000156908	ENST00000310914.5:c.422G>A	3.37:g.51929102C>T	ENSP00000307958:p.Arg141His	NA	Q8N711	37	CCDS2836.1	.	.	.	.	.	.	.	.	.	.	C	9.778	1.174636	0.21704	.	.	ENSG00000173389	ENST00000310914	T	0.65549	-0.16	4.75	2.96	0.34315	.	0.221444	0.32488	N	0.006039	T	0.47893	0.1470	L	0.39147	1.195	0.09310	N	1	B	0.33379	0.41	B	0.30646	0.118	T	0.40887	-0.9539	10	0.49607	T	0.09	-19.5588	7.7834	0.29078	0.0:0.8196:0.0:0.1804	.	141	Q8N6M8	IQCF1_HUMAN	H	141	ENSP00000307958:R141H	ENSP00000307958:R141H	R	-	2	0	IQCF1	51904142	0.121000	0.22262	0.002000	0.10522	0.429000	0.31625	1.466000	0.35310	0.727000	0.32360	0.549000	0.68633	CGC	IQCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346568.1		-	ENST00000310914.5	Missense_Mutation	SNP	3 : 51929102 - 51929102 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	608	101
PCDH15	65217	broad.mit.edu	37	10	55582479	55582479	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55582479G>T	ENST00000361849.3	-	34	5407	c.5013C>A	c.(5011-5013)ttC>ttA	p.F1671L	PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395430.1_Missense_Mutation_p.F1666L|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.F1646L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.F1669L|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.F1600L|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.F1629L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1669					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGAGAATGAGAAGTGAGGCC	0.418		NA								HNSCC(58;0.16)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	142	143			NA	NA	10		NA											NA				55582479		2203	4300	6503	SO:0001583	missense			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275	65217	65217		Cadherins / Cadherin-related	14674	protein-coding gene	gene with protein product	cadherin-related family member 15	605514	deafness, autosomal recessive 23, protocadherin 15	USH1F, DFNB23	NA	11398101, 14570705	Standard	NM_033056	NM_033056	NA	Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000361849.3:c.5013C>A	10.37:g.55582479G>T	ENSP00000354950:p.Phe1671Leu	NA	A6NL19|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	37	CCDS44404.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695374	0.30052	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.54479	0.6;0.57;0.61;0.58;0.58;0.6	4.95	1.56	0.23342	.	.	.	.	.	T	0.31918	0.0812	N	0.19112	0.55	0.25252	N	0.989667	B;B;B;B;B;B;B;B	0.25850	0.136;0.039;0.039;0.064;0.002;0.039;0.136;0.039	B;B;B;B;B;B;B;B	0.25759	0.063;0.039;0.039;0.028;0.003;0.039;0.055;0.039	T	0.20638	-1.0269	9	0.18710	T	0.47	.	6.3863	0.21561	0.5148:0.0:0.4852:0.0	.	1646;1669;1671;1676;1600;1629;1666;1669	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	L	1629;1671;1646;1669;1666;1676;1600	ENSP00000378820:F1629L;ENSP00000354950:F1671L;ENSP00000378821:F1646L;ENSP00000322604:F1669L;ENSP00000378818:F1666L;ENSP00000412628:F1600L	ENSP00000322604:F1669L	F	-	3	2	PCDH15	55252485	0.992000	0.36948	0.808000	0.32385	0.419000	0.31324	0.704000	0.25661	0.480000	0.27534	0.655000	0.94253	TTC	PCDH15-011	NOVEL	not_organism_supported|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000291338.1		-	ENST00000361849.3	Missense_Mutation	SNP	10 : 55582479 - 55582479 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	629	106
MAP1A	4130	broad.mit.edu	37	15	43816999	43816999	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43816999G>A	ENST00000382031.1	+	5	4073	c.4042G>A	c.(4042-4044)Ggc>Agc	p.G1348S	MAP1A_ENST00000399453.1_Missense_Mutation_p.G1110S|MAP1A_ENST00000300231.5_Missense_Mutation_p.G1110S			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1110						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGAGCCCACAGGCCCAATTCT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	79	78			NA	NA	15		NA											NA				43816999		1926	4110	6036	SO:0001583	missense			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963	4130	4130			6835	protein-coding gene	gene with protein product		600178		MAP1L	NA	7806212, 7629894	Standard	NM_002373	XM_005254385	NA	Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000382031.1:c.4042G>A	15.37:g.43816999G>A	ENSP00000371462:p.Gly1348Ser	NA	O95643|Q12973|Q15882|Q9UJT4	37		.	.	.	.	.	.	.	.	.	.	G	9.278	1.047335	0.19827	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01474	4.85;4.86;4.86	4.94	3.02	0.34903	.	.	.	.	.	T	0.02119	0.0066	M	0.65975	2.015	0.09310	N	1	B	0.14438	0.01	B	0.13407	0.009	T	0.50276	-0.8847	9	0.09084	T	0.74	-0.3322	3.4006	0.07321	0.1578:0.1335:0.5714:0.1373	.	1110	P78559	MAP1A_HUMAN	S	1348;1110;1110	ENSP00000371462:G1348S;ENSP00000382380:G1110S;ENSP00000300231:G1110S	ENSP00000300231:G1110S	G	+	1	0	MAP1A	41604291	0.039000	0.19947	0.144000	0.22314	0.531000	0.34715	2.172000	0.42463	1.315000	0.45114	0.655000	0.94253	GGC	MAP1A-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000132895.2		+	ENST00000382031.1	Missense_Mutation	SNP	15 : 43816999 - 43816999 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	561	92
CCT3	7203	broad.mit.edu	37	1	156279038	156279038	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156279038G>A	ENST00000295688.3	-	14	1870	c.1590C>T	c.(1588-1590)ggC>ggT	p.G530G	CCT3_ENST00000368261.3_Silent_p.G485G|CCT3_ENST00000368259.2_Silent_p.G492G|CCT3_ENST00000472765.2_Silent_p.G485G	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	530					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TCTGGTCATCGCCTTTCTTTT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	118	117			NA	NA	1		NA											NA				156279038		2203	4300	6503	SO:0001819	synonymous_variant			BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468	7203	7203		Heat Shock Proteins / Chaperonins	1616	protein-coding gene	gene with protein product		600114		TRIC5	NA	8110840	Standard	NM_005998	NM_005998	NA	Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.1590C>T	1.37:g.156279038G>A		NA	Q5SZY1|Q9BR64	37	CCDS1140.2																																																																																			CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060602.3		-	ENST00000295688.3	Silent	SNP	1 : 156279038 - 156279038 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	919	167
FST	10468	broad.mit.edu	37	5	52779404	52779404	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52779404C>T	ENST00000396947.3	+	3	514	c.348C>T	c.(346-348)tgC>tgT	p.C116C	FST_ENST00000256759.3_Silent_p.C116C	NM_006350.3	NP_006341.1	P19883	FST_HUMAN	follistatin	116	Follistatin-like 1.|Kazal-like 1.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				AACCCCGCTGCGTCTGCGCCC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	72	72			NA	NA	5		NA											NA				52779404		2203	4300	6503	SO:0001819	synonymous_variant			M19481	CCDS3959.1, CCDS43315.1	5q11.2	2008-02-05			ENSG00000134363	ENSG00000134363	10468	10468			3971	protein-coding gene	gene with protein product		136470			NA	10411917, 3380788	Standard	NM_013409	NM_006350	NA	Approved	FS	uc003jpd.3	P19883	OTTHUMG00000131183	ENST00000396947.3:c.348C>T	5.37:g.52779404C>T		NA	B5BU94|Q9BTH0	37	CCDS43315.1																																																																																			FST-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319781.3		+	ENST00000396947.3	Silent	SNP	5 : 52779404 - 52779404 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	286	49
NDUFA9	4704	broad.mit.edu	37	12	4796197	4796197	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4796197C>A	ENST00000266544.5	+	11	1077	c.1057C>A	c.(1057-1059)Ctg>Atg	p.L353M	NDUFA9_ENST00000540688.1_Missense_Mutation_p.L112M|RP11-234B24.6_ENST00000544741.2_Intron	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	353					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	CATTGAGGTGCTGCGGCGTCA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(75;996 1244 23946 25294 29232)							NA				0													109	83	92			NA	NA	12		NA											NA				4796197		2203	4300	6503	SO:0001583	missense			AF050641	CCDS8532.1	12p13.3	2011-09-14	2002-08-29		ENSG00000139180	ENSG00000139180	4704	4704		Mitochondrial respiratory chain complex / Complex I, Short chain dehydrogenase/reductase superfamily / Extended SDR fold	7693	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 22E, member 1, complex I 39kDa subunit	603834	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)	NDUFS2L	NA	8486360, 19027726	Standard	NM_005002	NM_005002	NA	Approved	SDR22E1, CI-39k	uc001qnc.3	Q16795		ENST00000266544.5:c.1057C>A	12.37:g.4796197C>A	ENSP00000266544:p.Leu353Met	NA	Q14076|Q2NKX0	37	CCDS8532.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.776740	0.70107	.	.	ENSG00000139180	ENST00000266544;ENST00000540688	D;D	0.85702	-1.54;-2.02	5.23	3.27	0.37495	.	0.070231	0.64402	D	0.000017	D	0.83991	0.5374	M	0.69463	2.115	0.54753	D	0.999987	D	0.63880	0.993	P	0.46975	0.533	D	0.84522	0.0628	10	0.72032	D	0.01	-10.6984	8.8668	0.35291	0.149:0.7701:0.0:0.081	.	353	Q16795	NDUA9_HUMAN	M	353;112	ENSP00000266544:L353M;ENSP00000439818:L112M	ENSP00000266544:L353M	L	+	1	2	NDUFA9	4666458	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	1.571000	0.36450	1.331000	0.45412	0.655000	0.94253	CTG	NDUFA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398900.2		+	ENST00000266544.5	Missense_Mutation	SNP	12 : 4796197 - 4796197 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	202	48
PCLO	27445	broad.mit.edu	37	7	82545765	82545765	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82545765C>T	ENST00000333891.9	-	7	11874	c.11537G>A	c.(11536-11538)cGa>cAa	p.R3846Q	PCLO_ENST00000437081.1_Missense_Mutation_p.R566Q|PCLO_ENST00000423517.2_Missense_Mutation_p.R3846Q	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	NA	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTTTCTATTCGGGTTGGTCT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472	27445	27445			13406	protein-coding gene	gene with protein product	aczonin	604918	piccolo (presynaptic cytomatrix protein)		NA	8900486, 9628581	Standard	NM_014510	NM_014510	NA	Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.11537G>A	7.37:g.82545765C>T	ENSP00000334319:p.Arg3846Gln	NA	A4D1A7|A6NNX9|O43373|O60305|Q08E72|Q9BVC8|Q9UIV2|Q9Y6U9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987688	0.35036	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.17054	2.3;2.3	5.8	5.8	0.92144	.	.	.	.	.	T	0.44074	0.1276	M	0.65498	2.005	0.48571	D	0.999673	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.92;0.99;0.99	T	0.22208	-1.0223	9	0.87932	D	0	.	20.0693	0.97712	0.0:1.0:0.0:0.0	.	3777;3846;3846	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	Q	3846;3846;566	ENSP00000334319:R3846Q;ENSP00000388393:R3846Q	ENSP00000334319:R3846Q	R	-	2	0	PCLO	82383701	1.000000	0.71417	0.955000	0.39395	0.309000	0.27889	4.800000	0.62524	2.758000	0.94735	0.563000	0.77884	CGA	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337368.5		-	ENST00000333891.9	Missense_Mutation	SNP	7 : 82545765 - 82545765 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	966	186
CAD	790	broad.mit.edu	37	2	27456554	27456554	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27456554C>A	ENST00000403525.1	+	20	3232	c.3088C>A	c.(3088-3090)Ctg>Atg	p.L1030M	CAD_ENST00000264705.4_Missense_Mutation_p.L1093M			P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1093	CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CTCCTATGTGCTGAGCGGTGC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	71	71			NA	NA	2		NA											NA				27456554		2203	4300	6503	SO:0001583	missense			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	790	790	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010			NA	8619816, 2565865	Standard		NM_004341	NA	Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.3088C>A	2.37:g.27456554C>A	ENSP00000384510:p.Leu1030Met	NA	D6W552|Q6P0Q0	37		.	.	.	.	.	.	.	.	.	.	C	28.9	4.956543	0.92726	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.97976	-4.64;-4.64	5.95	5.95	0.96441	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (2);	0.000000	0.85682	D	0.000000	D	0.99293	0.9753	H	0.97390	3.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98818	1.0746	10	0.87932	D	0	-1.0788	18.9357	0.92584	0.0:1.0:0.0:0.0	.	1030;1093	F8VPD4;P27708	.;PYR1_HUMAN	M	1093;1030	ENSP00000264705:L1093M;ENSP00000384510:L1030M	ENSP00000264705:L1093M	L	+	1	2	CAD	27310058	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.908000	0.48750	2.826000	0.97356	0.491000	0.48974	CTG	CAD-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000324970.1		+	ENST00000403525.1	Missense_Mutation	SNP	2 : 27456554 - 27456554 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	87
IL6	3569	broad.mit.edu	37	7	22767180	22767180	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:22767180C>A	ENST00000404625.1	+	3	596	c.137C>A	c.(136-138)cCa>cAa	p.P46Q	IL6_ENST00000401651.1_Intron|IL6_ENST00000406575.1_Missense_Mutation_p.P46Q|IL6_ENST00000407492.1_Intron|AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000258743.5_Missense_Mutation_p.P46Q|IL6_ENST00000401630.3_Missense_Mutation_p.P23Q|IL6_ENST00000420258.2_Missense_Mutation_p.P100Q			P05231	IL6_HUMAN	interleukin 6	46					acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)	CACAGACAGCCACTCACCTCT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(47;342 1214 13936 33513)							NA				0													106	102	103			NA	NA	7		NA											NA				22767180		2203	4300	6503	SO:0001583	missense			M18403	CCDS5375.1	7p21-p15	2014-04-04	2014-04-04		ENSG00000136244	ENSG00000136244	3569	3569		Interleukins and interleukin receptors, Interferons	6018	protein-coding gene	gene with protein product	interferon, beta 2	147620	interleukin 6 (interferon, beta 2)	IFNB2	NA	3294161	Standard	NM_000600	NM_000600	NA	Approved	IL-6, BSF2, HGF, HSF	uc003svj.4	P05231	OTTHUMG00000023178	ENST00000404625.1:c.137C>A	7.37:g.22767180C>A	ENSP00000385675:p.Pro46Gln	NA	Q9UCU2|Q9UCU3|Q9UCU4	37	CCDS5375.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752806	0.31046	.	.	ENSG00000136244	ENST00000404625;ENST00000426291;ENST00000258743;ENST00000420258;ENST00000401630;ENST00000406575	T;T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;0.82;1.81;-0.81	5.2	-4.27	0.03744	Four-helical cytokine, core (1);	2.471950	0.01105	N	0.005476	T	0.56171	0.1967	N	0.12961	0.28	0.09310	N	1	B;B;B	0.27882	0.192;0.177;0.025	B;B;B	0.29267	0.1;0.053;0.012	T	0.47548	-0.9109	10	0.51188	T	0.08	11.6934	4.7642	0.13123	0.2457:0.2693:0.0:0.485	.	100;46;46	B4DNQ5;B5MC14;P05231	.;.;IL6_HUMAN	Q	46;46;46;100;23;46	ENSP00000385675:P46Q;ENSP00000405150:P46Q;ENSP00000258743:P46Q;ENSP00000405994:P100Q;ENSP00000384928:P23Q;ENSP00000385227:P46Q	ENSP00000258743:P46Q	P	+	2	0	IL6	22733705	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.985000	0.03751	-1.066000	0.03164	-0.263000	0.10527	CCA	IL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250225.2		+	ENST00000404625.1	Missense_Mutation	SNP	7 : 22767180 - 22767180 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	560	91
ATP6V0D1	9114	broad.mit.edu	37	16	67472759	67472759	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67472759G>A	ENST00000540149.1	-	8	984	c.954C>T	c.(952-954)ctC>ctT	p.L318L	ATP6V0D1_ENST00000290949.3_Silent_p.L277L|ATP6V0D1_ENST00000602876.1_Silent_p.L200L|ATP6V0D1_ENST00000567694.1_5'UTR			P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	277					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex				large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CACCCTCGAAGAGCAGCTTGT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	98	99			NA	NA	16		NA											NA				67472759		2198	4300	6498	SO:0001819	synonymous_variant			X71490	CCDS10838.1	16q22	2010-04-21	2006-01-20	2002-05-10	ENSG00000159720	ENSG00000159720	9114	9114		ATPases / V-type	13724	protein-coding gene	gene with protein product		607028	ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D, ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1, ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D1	ATP6D	NA	8250920	Standard	NM_004691	NM_004691	NA	Approved	ATP6DV, VATX, VPATPD, P39, Vma6	uc002ete.1	P61421	OTTHUMG00000137515	ENST00000540149.1:c.954C>T	16.37:g.67472759G>A		NA	P12953|Q02547	37																																																																																				ATP6V0D1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000421900.1		-	ENST00000540149.1	Silent	SNP	16 : 67472759 - 67472759 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	899	167
DYM	54808	broad.mit.edu	37	18	46812850	46812850	+	Silent	SNP	C	C	T	rs142473333		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:46812850C>T	ENST00000269445.6	-	9	1357	c.900G>A	c.(898-900)gcG>gcA	p.A300A	DYM_ENST00000442713.2_Silent_p.A110A	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	300						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						AGGGGTTTGGCGCATCTGAGG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	117	113			NA	NA	18		NA											NA				46812850		2203	4300	6503	SO:0001819	synonymous_variant			AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627	54808	54808			21317	protein-coding gene	gene with protein product		607461			NA		Standard	NM_017653	NM_017653	NA	Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.900G>A	18.37:g.46812850C>T		NA	A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	37	CCDS11937.1																																																																																			DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255912.3		-	ENST00000269445.6	Silent	SNP	18 : 46812850 - 46812850 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	758	146
BAHD1	22893	broad.mit.edu	37	15	40751121	40751121	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40751121G>A	ENST00000561234.1	+	2	717	c.458G>A	c.(457-459)cGc>cAc	p.R153H	BAHD1_ENST00000416165.1_Missense_Mutation_p.R153H|BAHD1_ENST00000560846.1_Missense_Mutation_p.R153H			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	153					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GATCCCCACCGCAGCCGTGAC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	0,4378		0,0,2189	24	31	29		458	4.4	1	15		29	1,8559		0,1,4279	no	missense	BAHD1	NM_014952.3	29	0,1,6468	AA,AG,GG	NA	0.0117,0.0,0.0077	probably-damaging	153/781	40751121	1,12937	2189	4280	6469	SO:0001583	missense			AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320	22893	22893			29153	protein-coding gene	gene with protein product		613880			NA	10231032	Standard	NM_014952	XM_005254229	NA	Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000561234.1:c.458G>A	15.37:g.40751121G>A	ENSP00000454150:p.Arg153His	NA	Q8NDF7|Q9Y2F4	37		.	.	.	.	.	.	.	.	.	.	G	5.580	0.291807	0.10567	0.0	1.17E-4	ENSG00000140320	ENST00000416165	T	0.18174	2.23	4.44	4.44	0.53790	.	0.229658	0.36778	N	0.002407	T	0.09598	0.0236	N	0.08118	0	0.09310	N	1	P;P;P	0.52577	0.954;0.923;0.954	P;B;P	0.45449	0.481;0.288;0.481	T	0.16158	-1.0412	10	0.36615	T	0.2	-20.8915	8.1268	0.31003	0.0:0.246:0.5944:0.1596	.	153;153;153	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	H	153	ENSP00000396976:R153H	ENSP00000396976:R153H	R	+	2	0	BAHD1	38538413	0.326000	0.24669	0.996000	0.52242	0.132000	0.20833	3.085000	0.50151	2.746000	0.94184	0.650000	0.86243	CGC	BAHD1-002	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000418756.1		+	ENST00000561234.1	Missense_Mutation	SNP	15 : 40751121 - 40751121 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	489	49
SNTB1	6641	broad.mit.edu	37	8	121706136	121706136	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:121706136C>T	ENST00000395601.3	-	3	998	c.584G>A	c.(583-585)cGa>cAa	p.R195Q	SNTB1_ENST00000517992.1_Missense_Mutation_p.R195Q|SNTB1_ENST00000519177.1_5'UTR	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	195	PDZ.|PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	p.R195L(1)|p.R195P(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			CGTGGCTTCTCGCATGTACTT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(2)											75	79	78			NA	NA	8		NA											NA				121706136		2203	4300	6503	SO:0001583	missense			AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164	6641	6641		Pleckstrin homology (PH) domain containing	11168	protein-coding gene	gene with protein product	tax interaction protein 43	600026	syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)	SNT2B1	NA	8183929, 9482110	Standard	NM_021021	NM_021021	NA	Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.584G>A	8.37:g.121706136C>T	ENSP00000378965:p.Arg195Gln	NA	A8K9E0|O14912|Q4KMG8	37	CCDS6334.1	.	.	.	.	.	.	.	.	.	.	C	33	5.262029	0.95368	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	T;T	0.58652	0.32;0.32	5.44	5.44	0.79542	PDZ/DHR/GLGF (3);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.72653	0.3487	L	0.52759	1.655	0.80722	D	1	D;D	0.89917	0.973;1.0	P;D	0.85130	0.581;0.997	T	0.71230	-0.4654	10	0.49607	T	0.09	.	19.443	0.94831	0.0:1.0:0.0:0.0	.	195;195	Q13884;Q13884-2	SNTB1_HUMAN;.	Q	195	ENSP00000378965:R195Q;ENSP00000431124:R195Q	ENSP00000378965:R195Q	R	-	2	0	SNTB1	121775317	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.016000	0.76393	2.814000	0.96858	0.655000	0.94253	CGA	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381535.1		-	ENST00000395601.3	Missense_Mutation	SNP	8 : 121706136 - 121706136 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	445	81
CATSPERD	257062	broad.mit.edu	37	19	5763298	5763298	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5763298G>T	ENST00000381624.3	+	16	1561	c.1500G>T	c.(1498-1500)aaG>aaT	p.K500N	CATSPERD_ENST00000381614.2_Missense_Mutation_p.K158N|CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	500						integral to membrane					NA						TGGATATCAAGCCACTGGTAG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	133	137			NA	NA	19		NA											NA				5763298		1958	4151	6109	SO:0001583	missense			BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898	257062	257062			28598	protein-coding gene	gene with protein product			transmembrane protein 146	TMEM146	NA	21224844	Standard	NM_152784	NM_152784	NA	Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.1500G>T	19.37:g.5763298G>T	ENSP00000371037:p.Lys500Asn	NA	Q6ZRP1	37	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	g	11.91	1.781003	0.31502	.	.	ENSG00000174898	ENST00000394548;ENST00000381624;ENST00000381614;ENST00000309164;ENST00000381613	T;T	0.28255	1.62;1.62	3.32	3.32	0.38043	.	0.216430	0.22934	U	0.053879	T	0.43853	0.1266	L	0.56769	1.78	0.30142	N	0.803866	D;D	0.61697	0.99;0.977	P;P	0.58620	0.842;0.656	T	0.44498	-0.9324	10	0.72032	D	0.01	-25.9749	10.9	0.47045	0.0:0.0:1.0:0.0	.	426;500	B7WNK5;Q86XM0	.;TM146_HUMAN	N	426;500;158;171;169	ENSP00000371037:K500N;ENSP00000371027:K158N	ENSP00000310546:K171N	K	+	3	2	TMEM146	5714298	0.983000	0.35010	0.953000	0.39169	0.065000	0.16274	0.978000	0.29488	1.806000	0.52798	0.282000	0.19409	AAG	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286953.2		+	ENST00000381624.3	Missense_Mutation	SNP	19 : 5763298 - 5763298 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	62
CACNA1E	777	broad.mit.edu	37	1	181702155	181702155	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181702155C>A	ENST00000526775.1	+	19	3041	c.2876C>A	c.(2875-2877)gCc>gAc	p.A959D	CACNA1E_ENST00000367573.2_Missense_Mutation_p.A978D|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A910D|CACNA1E_ENST00000367567.4_Missense_Mutation_p.A585D|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A978D|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A959D|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A929D	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	978					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.A978D(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAAGAGAGAGCCCAGGATTTA	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)	lung(1)											38	44	42			NA	NA	1		NA											NA				181702155		2085	4217	6302	SO:0001583	missense			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216	777	777		Calcium channel subunits, Voltage-gated ion channels / Calcium channels, EF-hand domain containing	1392	protein-coding gene	gene with protein product		601013		CACNL1A6	NA	8388125, 16382099	Standard	NM_000721	NM_001205293	NA	Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000526775.1:c.2876C>A	1.37:g.181702155C>A	ENSP00000434814:p.Ala959Asp	NA	B1AM12|B1AM13|B1AM14|Q14580|Q14581	37	CCDS55665.1	.	.	.	.	.	.	.	.	.	.	C	5.066	0.197918	0.09652	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96136	-3.85;-3.86;-3.86;-3.86;-3.92;-3.87;-3.86	4.03	1.06	0.20224	.	2.114420	0.03186	U	0.172771	D	0.88418	0.6431	N	0.08118	0	0.09310	N	1	B;B;B	0.21905	0.062;0.005;0.032	B;B;B	0.18871	0.023;0.015;0.023	T	0.79524	-0.1768	10	0.11485	T	0.65	.	9.042	0.36322	0.0:0.3528:0.5552:0.092	.	959;978;978	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	D	978;959;929;910;585;959;978	ENSP00000356542:A978D;ENSP00000434814:A959D;ENSP00000350183:A929D;ENSP00000351101:A910D;ENSP00000356539:A585D;ENSP00000353222:A959D;ENSP00000356545:A978D	ENSP00000350183:A929D	A	+	2	0	CACNA1E	179968778	0.000000	0.05858	0.009000	0.14445	0.594000	0.36715	-0.289000	0.08365	0.246000	0.21394	0.555000	0.69702	GCC	CACNA1E-002	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090792.2		+	ENST00000526775.1	Missense_Mutation	SNP	1 : 181702155 - 181702155 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	209	29
RABGAP1L	9910	broad.mit.edu	37	1	174210743	174210743	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:174210743A>G	ENST00000251507.4	+	5	839	c.665A>G	c.(664-666)cAt>cGt	p.H222R	RABGAP1L_ENST00000367689.3_5'UTR|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.H185R	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	222	PID.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GAGAGTTCCCATGGTTCGGAA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	83	85			NA	NA	1		NA											NA				174210743		2203	4300	6503	SO:0001583	missense			AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061	9910	9910			24663	protein-coding gene	gene with protein product		609238			NA	10585558	Standard	NM_001243765	NM_014857	NA	Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.665A>G	1.37:g.174210743A>G	ENSP00000251507:p.His222Arg	NA	O75059|Q3ZTR8|Q5R369|Q8IVV0|Q8N921|Q8WV78|Q9NSP8|Q9UQ19|Q9UQP5|Q9Y6Y5|Q9Y6Y6	37	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	A	10.82	1.456919	0.26161	.	.	ENSG00000152061	ENST00000357444;ENST00000251507;ENST00000457696;ENST00000367692	T;T;T	0.17370	2.28;2.28;2.28	5.41	2.66	0.31614	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.279450	0.35739	N	0.003006	T	0.04452	0.0122	N	0.01482	-0.84	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.003;0.002;0.0	T	0.29579	-1.0007	10	0.26408	T	0.33	.	1.6768	0.02823	0.4307:0.3079:0.1118:0.1496	.	222;222;185	B7WPG6;Q5R372;Q5R372-2	.;RBG1L_HUMAN;.	R	185;222;222;222	ENSP00000350027:H185R;ENSP00000251507:H222R;ENSP00000403136:H222R	ENSP00000251507:H222R	H	+	2	0	RABGAP1L	172477366	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.531000	0.53546	0.854000	0.35336	0.460000	0.39030	CAT	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084497.1		+	ENST00000251507.4	Missense_Mutation	SNP	1 : 174210743 - 174210743 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	370	87
PAK4	10298	broad.mit.edu	37	19	39667313	39667313	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39667313G>A	ENST00000599386.1	+	7	1165	c.984G>A	c.(982-984)tgG>tgA	p.W328*	PAK4_ENST00000593690.1_Nonsense_Mutation_p.W481*|PAK4_ENST00000599470.1_Nonsense_Mutation_p.W328*|PAK4_ENST00000435673.2_Nonsense_Mutation_p.W481*|PAK4_ENST00000358301.3_Nonsense_Mutation_p.W481*|PAK4_ENST00000321944.4_Nonsense_Mutation_p.W391*|PAK4_ENST00000360442.3_Nonsense_Mutation_p.W481*	NM_001014835.1	NP_001014835.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	481	Protein kinase.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CGCCCTACTGGATGGCCCCAG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	105	103			NA	NA	19		NA											NA				39667313		2203	4300	6503	SO:0001587	stop_gained			AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17				NA	10298			16059	protein-coding gene	gene with protein product		605451	p21(CDKN1A)-activated kinase 4		NA	9822598, 10461188	Standard		NM_001014831	NA	Approved		uc002okn.1	O96013		ENST00000599386.1:c.984G>A	19.37:g.39667313G>A	ENSP00000471157:p.Trp328*	NA	B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	37	CCDS33019.1	.	.	.	.	.	.	.	.	.	.	G	39	7.304802	0.98200	.	.	ENSG00000130669	ENST00000358301;ENST00000321944;ENST00000358801;ENST00000542377;ENST00000435673;ENST00000360442	.	.	.	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5385	0.76021	0.0:0.0:1.0:0.0	.	.	.	.	X	481;328;285;237;481;481	.	ENSP00000326864:W328X	W	+	3	0	PAK4	44359153	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.591000	0.98241	2.521000	0.84997	0.650000	0.86243	TGG	PAK4-015	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463824.1		+	ENST00000599386.1	Nonsense_Mutation	SNP	19 : 39667313 - 39667313 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1115	226
ZNF574	64763	broad.mit.edu	37	19	42583614	42583614	+	Missense_Mutation	SNP	C	C	T	rs148844955		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42583614C>T	ENST00000600245.1	+	2	1511	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W	ZNF574_ENST00000359044.4_Missense_Mutation_p.R286W|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Missense_Mutation_p.R376W			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				AGCCATTGGGCGGGATCGCCG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	62	59			NA	NA	19		NA											NA				42583614		2203	4300	6503	SO:0001583	missense			AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732	64763	64763		Zinc fingers, C2H2-type	26166	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_022752	NM_022752	NA	Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.856C>T	19.37:g.42583614C>T	ENSP00000469029:p.Arg286Trp	NA	Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	37	CCDS12596.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079695	0.55753	.	.	ENSG00000105732	ENST00000222339;ENST00000359044	T;T	0.07327	3.2;3.25	4.96	3.91	0.45181	.	0.323021	0.21335	N	0.076227	T	0.11281	0.0275	N	0.08118	0	0.28114	N	0.930871	D;D	0.89917	0.999;1.0	P;D	0.70935	0.877;0.971	T	0.17501	-1.0367	10	0.35671	T	0.21	-13.0784	11.9409	0.52901	0.3142:0.6858:0.0:0.0	.	286;375	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	W	376;286	ENSP00000222339:R376W;ENSP00000351939:R286W	ENSP00000222339:R376W	R	+	1	2	ZNF574	47275454	0.000000	0.05858	0.730000	0.30809	0.922000	0.55478	0.114000	0.15520	1.258000	0.44101	0.655000	0.94253	CGG	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463458.1		+	ENST00000600245.1	Missense_Mutation	SNP	19 : 42583614 - 42583614 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	636	125
TTLL1	25809	broad.mit.edu	37	22	43442565	43442565	+	Silent	SNP	C	C	T	rs143499869		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43442565C>T	ENST00000266254.7	-	10	1233	c.993G>A	c.(991-993)ccG>ccA	p.P331P	TTLL1_ENST00000331018.7_Silent_p.P302P|AL022476.2_ENST00000443063.1_RNA	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	331	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		ACGTGAGAGACGGGGACGCAT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	271	235	247		993	-3	0.4	22	dbSNP_134	247	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TTLL1	NM_012263.4		0,2,6501	TT,TC,CC	NA	0.0233,0.0,0.0154		331/424	43442565	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271	25809	25809		Tubulin tyrosine ligase-like family	1312	protein-coding gene	gene with protein product		608955	tubulin tyrosine ligase-like 1	C22orf7	NA	10591208, 11054573	Standard	NM_012263	NM_012263	NA	Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.993G>A	22.37:g.43442565C>T		NA	B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	37	CCDS14043.1	.	.	.	.	.	.	.	.	.	.	C	7.829	0.719347	0.15372	0.0	2.33E-4	ENSG00000100271	ENST00000495814	.	.	.	5.54	-2.99	0.05497	.	.	.	.	.	T	0.53753	0.1816	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52609	-0.8553	4	.	.	.	.	9.4624	0.38792	0.1029:0.5492:0.0:0.3479	.	.	.	.	H	257	.	.	R	-	2	0	TTLL1	41772509	0.000000	0.05858	0.388000	0.26195	0.796000	0.44982	-3.454000	0.00465	-0.266000	0.09339	0.549000	0.68633	CGT	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319659.1		-	ENST00000266254.7	Silent	SNP	22 : 43442565 - 43442565 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	571	118
KDSR	2531	broad.mit.edu	37	18	61018225	61018225	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61018225C>T	ENST00000406396.3	-	6	896	c.505G>A	c.(505-507)Gtg>Atg	p.V169M	KDSR_ENST00000326575.5_Intron	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	169					3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						GACACAAACACGATCCTGCCC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	108	110			NA	NA	18		NA											NA				61018225		2203	4300	6503	SO:0001583	missense				CCDS11982.1	18q21	2011-09-20	2008-02-20	2008-02-20	ENSG00000119537	ENSG00000119537	2531	2531	1.1.1.102	Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3	4021	protein-coding gene	gene with protein product	3-dehydrosphinganine reductase, short chain dehydrogenase/reductase family 35C, member 1	136440	follicular lymphoma variant translocation 1	FVT1	NA	8417785, 15328338, 17420465, 19027726	Standard		NM_002035	NA	Approved	DHSR, SDR35C1	uc010dpw.3	Q06136	OTTHUMG00000132792	ENST00000406396.3:c.505G>A	18.37:g.61018225C>T	ENSP00000385083:p.Val169Met	NA	B2R5Y1	37	CCDS11982.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.489014	0.64074	.	.	ENSG00000119537	ENST00000406396	D	0.92149	-2.98	5.95	5.95	0.96441	NAD(P)-binding domain (1);	0.093753	0.64402	D	0.000001	D	0.92825	0.7718	M	0.88842	2.985	0.80722	D	1	P	0.45396	0.857	B	0.34138	0.176	D	0.93825	0.7122	10	0.66056	D	0.02	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	169	Q06136	KDSR_HUMAN	M	169	ENSP00000385083:V169M	ENSP00000385083:V169M	V	-	1	0	KDSR	59169205	1.000000	0.71417	0.989000	0.46669	0.949000	0.60115	3.970000	0.56824	2.824000	0.97209	0.655000	0.94253	GTG	KDSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256200.2		-	ENST00000406396.3	Missense_Mutation	SNP	18 : 61018225 - 61018225 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	667	109
ZZZ3	26009	broad.mit.edu	37	1	78034018	78034018	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78034018T>G	ENST00000370801.3	-	13	2940	c.2465A>C	c.(2464-2466)aAg>aCg	p.K822T	ZZZ3_ENST00000370798.1_Splice_Site_p.K328T|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	822					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						AGAACTTACCTTAAAGCCCAC	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	81	80			NA	NA	1		NA											NA				78034018		2203	4299	6502	SO:0001630	splice_region_variant			AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549	26009	26009		Zinc fingers, ZZ-type	24523	protein-coding gene	gene with protein product	ATAC component 1 homolog (Drosophila)				NA	16428443, 21304275	Standard	NM_015534	NM_015534	NA	Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.2466+1A>C	1.37:g.78034018T>G		NA	B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	37	CCDS677.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.552257	0.86127	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	D;D	0.91407	-2.84;-2.84	5.46	5.46	0.80206	Zinc finger, ZZ-type (3);	0.000000	0.85682	D	0.000000	D	0.90263	0.6955	L	0.28740	0.885	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.996;0.984;0.999	D	0.90468	0.4451	10	0.38643	T	0.18	.	15.8471	0.78901	0.0:0.0:0.0:1.0	.	328;822;821	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	T	822;328	ENSP00000359837:K822T;ENSP00000359834:K328T	ENSP00000359834:K328T	K	-	2	0	ZZZ3	77806606	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.418000	0.80167	2.208000	0.71279	0.528000	0.53228	AAG	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026615.1	Missense_Mutation	-	ENST00000370801.3	Splice_Site	SNP	1 : 78034018 - 78034018 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	418	95
RBM15	64783	broad.mit.edu	37	1	110882581	110882581	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110882581C>T	ENST00000369784.3	+	1	1454	c.554C>T	c.(553-555)gCg>gTg	p.A185V	RBM15_ENST00000602849.1_Missense_Mutation_p.A185V|RBM15_ENST00000487146.2_Missense_Mutation_p.A185V	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	185	RRM 1.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGTGACGAAGCGGTGGAGGAC	0.597		NA	T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	0													71	75	73			NA	NA	1		NA											NA				110882581		2203	4300	6503	SO:0001583	missense			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775	64783	64783		RNA binding motif (RRM) containing	14959	protein-coding gene	gene with protein product	one twenty-two	606077			NA	11431691, 11344311	Standard	NM_022768	NM_001201545	NA	Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.554C>T	1.37:g.110882581C>T	ENSP00000358799:p.Ala185Val	1430	Q4V760|Q5D058|Q5T613|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	37	CCDS822.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.970749	0.34754	.	.	ENSG00000162775	ENST00000369784	T	0.17691	2.26	5.21	5.21	0.72293	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.46442	D	0.000284	T	0.04679	0.0127	N	0.12569	0.235	0.53005	D	0.99996	D;D	0.56521	0.976;0.96	B;B	0.40134	0.32;0.238	T	0.40590	-0.9555	10	0.13108	T	0.6	-9.2181	18.5182	0.90942	0.0:1.0:0.0:0.0	.	185;185	Q96T37-3;Q96T37	.;RBM15_HUMAN	V	185	ENSP00000358799:A185V	ENSP00000358799:A185V	A	+	2	0	RBM15	110684104	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	2.941000	0.49011	2.706000	0.92434	0.655000	0.94253	GCG	RBM15-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000031114.2		+	ENST00000369784.3	Missense_Mutation	SNP	1 : 110882581 - 110882581 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	501	56
RGS1	5996	broad.mit.edu	37	1	192545470	192545470	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:192545470A>G	ENST00000367459.3	+	2	259	c.193A>G	c.(193-195)Atg>Gtg	p.M65V	RGS1_ENST00000469578.2_Missense_Mutation_p.M65V	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	65					immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				GGAATCTGGAATGAAATCTTC	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	78	78			NA	NA	1		NA											NA				192545470		2203	4297	6500	SO:0001583	missense			AF493925	CCDS1375.2	1q31	2008-02-05	2007-08-14		ENSG00000090104	ENSG00000090104	5996	5996		Regulators of G-protein signaling	9991	protein-coding gene	gene with protein product		600323	regulator of G-protein signalling 1	IER1	NA	8241276, 8602223	Standard	NM_002922	NM_002922	NA	Approved	1R20, IR20, BL34	uc001gsi.1	Q08116	OTTHUMG00000035598	ENST00000367459.3:c.193A>G	1.37:g.192545470A>G	ENSP00000356429:p.Met65Val	NA	B2RDM9|B4DZY0|Q07918|Q9H1W2	37	CCDS1375.2	.	.	.	.	.	.	.	.	.	.	A	11.89	1.773599	0.31411	.	.	ENSG00000090104	ENST00000367459	T	0.36699	1.24	5.91	4.72	0.59763	.	1.982040	0.02048	N	0.049806	T	0.28433	0.0703	N	0.14661	0.345	0.36212	D	0.851395	B;B	0.16802	0.019;0.0	B;B	0.12837	0.008;0.0	T	0.03566	-1.1024	10	0.27785	T	0.31	.	11.8361	0.52325	0.8539:0.1461:0.0:0.0	.	65;65	Q08116-2;Q08116	.;RGS1_HUMAN	V	65	ENSP00000356429:M65V	ENSP00000356429:M65V	M	+	1	0	RGS1	190812093	0.994000	0.37717	0.997000	0.53966	0.932000	0.56968	2.090000	0.41682	2.254000	0.74563	0.533000	0.62120	ATG	RGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086391.1		+	ENST00000367459.3	Missense_Mutation	SNP	1 : 192545470 - 192545470 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	26
PDE4D	5144	broad.mit.edu	37	5	58285692	58285692	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:58285692G>T	ENST00000340635.6	-	10	1517	c.1342C>A	c.(1342-1344)Ctt>Att	p.L448I	PDE4D_ENST00000405755.2_Missense_Mutation_p.L326I|PDE4D_ENST00000360047.5_Missense_Mutation_p.L312I|PDE4D_ENST00000507116.1_Missense_Mutation_p.L384I|PDE4D_ENST00000546160.1_Missense_Mutation_p.L387I|PDE4D_ENST00000503258.1_Missense_Mutation_p.L318I|PDE4D_ENST00000358923.6_Missense_Mutation_p.L146I|PDE4D_ENST00000502484.2_Missense_Mutation_p.L387I|PDE4D_ENST00000317118.8_Missense_Mutation_p.L157I	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	448					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	AGAGTCATAAGATATGTAATT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	112	111			NA	NA	5		NA											NA				58285692		1882	4097	5979	SO:0001583	missense				CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				5144	5144	3.1.4.17	Phosphodiesterases	8783	protein-coding gene	gene with protein product	phosphodiesterase E3 dunce homolog (Drosophila)	600129	phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)	DPDE3	NA		Standard		NM_006203	NA	Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.1342C>A	5.37:g.58285692G>T	ENSP00000345502:p.Leu448Ile	NA	O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	37	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.411307	0.62399	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000505453	T;T;T;T;T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.5	4.63	0.57726	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.85682	D	0.000000	T	0.78616	0.4311	M	0.65975	2.015	0.42555	D	0.993127	B;P;P;B;B;P;B;B	0.49783	0.013;0.928;0.897;0.405;0.405;0.897;0.008;0.008	B;D;D;B;B;D;B;B	0.70716	0.059;0.955;0.97;0.34;0.34;0.97;0.031;0.076	T	0.76860	-0.2803	10	0.33940	T	0.23	.	6.4503	0.21900	0.1786:0.1537:0.6677:0.0	.	387;448;384;311;326;318;223;157	Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10;Q08499-4;Q08499-8	.;PDE4D_HUMAN;.;.;.;.;.;.	I	448;317;312;384;146;157;318;326;387;387;146	ENSP00000345502:L448I;ENSP00000353152:L312I;ENSP00000424852:L384I;ENSP00000351800:L146I;ENSP00000321739:L157I;ENSP00000425605:L318I;ENSP00000384806:L326I;ENSP00000423094:L387I;ENSP00000442734:L387I;ENSP00000421013:L146I	ENSP00000321739:L157I	L	-	1	0	PDE4D	58321449	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.215000	0.32431	1.523000	0.49018	0.655000	0.94253	CTT	PDE4D-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367940.3		-	ENST00000340635.6	Missense_Mutation	SNP	5 : 58285692 - 58285692 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	254	17
C1S	716	broad.mit.edu	37	12	7177578	7177578	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7177578C>A	ENST00000402681.3	+	11	1836	c.1189C>A	c.(1189-1191)Ctg>Atg	p.L397M	C1S_ENST00000328916.3_Missense_Mutation_p.L564M|C1S_ENST00000406697.1_Missense_Mutation_p.L564M|C1S_ENST00000360817.5_Missense_Mutation_p.L564M			P09871	C1S_HUMAN	complement component 1, s subcomponent	564	Sushi 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGATGGGGACCTGGGACTGAT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(156;750 1943 12971 24779 31015)							NA				0													52	49	50			NA	NA	12		NA											NA				7177578		2203	4300	6503	SO:0001583	missense				CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	716	716	3.4.21.42	Complement system	1247	protein-coding gene	gene with protein product		120580			NA		Standard	NM_001734	NM_201442	NA	Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000402681.3:c.1189C>A	12.37:g.7177578C>A	ENSP00000384171:p.Leu397Met	NA	D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	37		.	.	.	.	.	.	.	.	.	.	C	12.78	2.040696	0.35989	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681	D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4	5.16	2.35	0.29111	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.252645	0.20722	N	0.086888	T	0.73442	0.3587	N	0.12569	0.235	0.09310	N	0.999995	B	0.24882	0.113	B	0.26770	0.073	T	0.57763	-0.7755	10	0.16420	T	0.52	.	3.5999	0.08020	0.1378:0.5849:0.1332:0.1441	.	564	P09871	C1S_HUMAN	M	564;564;564;558;397	ENSP00000385035:L564M;ENSP00000328173:L564M;ENSP00000354057:L564M;ENSP00000384171:L397M	ENSP00000328173:L564M	L	+	1	2	C1S	7047839	0.044000	0.20184	0.241000	0.24154	0.018000	0.09664	0.253000	0.18296	0.330000	0.23485	0.561000	0.74099	CTG	C1S-017	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000401825.1		+	ENST00000402681.3	Missense_Mutation	SNP	12 : 7177578 - 7177578 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	207	50
TTLL8	164714	broad.mit.edu	37	22	50471771	50471771	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50471771C>T	ENST00000266182.6	-	10	1142	c.1143G>A	c.(1141-1143)acG>acA	p.T381T	TTLL8_ENST00000440475.1_Silent_p.T361T					tubulin tyrosine ligase-like family, member 8	NA										NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		TGAGCAGCGGCGTCTCGATGT	0.557		NA											C	2	9e-04	NA	NA	2184	0.0035	0.9994	,	,	NA	6e-04	NA	NA	NA	0.0012	0.7899	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0								C		0,4314		0,0,2157	51	59	56		1173	-4.8	0.6	22		56	1,8525		0,1,4262	no	coding-synonymous	TTLL8	XM_003403494.1		0,1,6419	TT,TC,CC	NA	0.0117,0.0,0.0078		391/841	50471771	1,12839	2157	4263	6420	SO:0001819	synonymous_variant					22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892	164714	164714		Tubulin tyrosine ligase-like family	34000	protein-coding gene	gene with protein product					NA	15890843	Standard	NM_001080447	XM_003403745	NA	Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.1143G>A	22.37:g.50471771C>T		NA		37																																																																																				TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding			-	ENST00000266182.6	Silent	SNP	22 : 50471771 - 50471771 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	75	19
CEP350	9857	broad.mit.edu	37	1	180017679	180017679	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180017679G>A	ENST00000367607.3	+	22	5049	c.4631G>A	c.(4630-4632)aGt>aAt	p.S1544N		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1544	Ser-rich.					centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGAAGTAGCAGTGGTAGCAGC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	91	90			NA	NA	1		NA											NA				180017679		2203	4300	6503	SO:0001583	missense			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837	9857	9857			24238	protein-coding gene	gene with protein product	centrosome associated protein 350				NA	16314388, 15615782	Standard	NM_014810	NM_014810	NA	Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.4631G>A	1.37:g.180017679G>A	ENSP00000356579:p.Ser1544Asn	NA	O75068|Q8TDK3|Q8WY20	37	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237742	0.79800	.	.	ENSG00000135837	ENST00000367607	T	0.57752	0.38	5.55	5.55	0.83447	.	0.000000	0.51477	D	0.000090	T	0.61311	0.2337	L	0.29908	0.895	0.80722	D	1	D;P	0.63880	0.993;0.932	D;P	0.70227	0.968;0.476	T	0.57516	-0.7798	9	.	.	.	.	17.271	0.87102	0.0:0.0:1.0:0.0	.	1544;1544	E7EU22;Q5VT06	.;CE350_HUMAN	N	1544	ENSP00000356579:S1544N	.	S	+	2	0	CEP350	178284302	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	5.413000	0.66399	2.611000	0.88343	0.563000	0.77884	AGT	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085315.2		+	ENST00000367607.3	Missense_Mutation	SNP	1 : 180017679 - 180017679 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	275	39
HS3ST2	9956	broad.mit.edu	37	16	22926338	22926338	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22926338G>A	ENST00000261374.3	+	2	993	c.559G>A	c.(559-561)Gct>Act	p.A187T		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	187						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		CACTCAAGAGGCTCCTCGACG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	96	98			NA	NA	16		NA											NA				22926338		2197	4300	6497	SO:0001583	missense			AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	9956	9956	2.8.2.23	Sulfotransferases, membrane-bound	5195	protein-coding gene	gene with protein product		604056			NA	9988767	Standard	NM_006043	NM_006043	NA	Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.559G>A	16.37:g.22926338G>A	ENSP00000261374:p.Ala187Thr	NA	Q52LZ1	37	CCDS10606.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655980	0.47467	.	.	ENSG00000122254	ENST00000261374;ENST00000540146	T	0.48836	0.8	5.25	4.3	0.51218	Sulfotransferase domain (1);	0.051785	0.85682	D	0.000000	T	0.45155	0.1328	L	0.43646	1.37	0.80722	D	1	P	0.42649	0.786	B	0.44044	0.439	T	0.42361	-0.9456	10	0.49607	T	0.09	.	13.1286	0.59369	0.0769:0.0:0.9231:0.0	.	187	Q9Y278	HS3S2_HUMAN	T	187;195	ENSP00000261374:A187T	ENSP00000261374:A187T	A	+	1	0	HS3ST2	22833839	1.000000	0.71417	0.999000	0.59377	0.153000	0.21895	5.575000	0.67430	1.225000	0.43566	0.561000	0.74099	GCT	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000211598.1		+	ENST00000261374.3	Missense_Mutation	SNP	16 : 22926338 - 22926338 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	702	155
PHYH	5264	broad.mit.edu	37	10	13323092	13323092	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13323092C>T	ENST00000396920.3	-	8	1200	c.796G>A	c.(796-798)Gcc>Acc	p.A266T	PHYH_ENST00000396913.2_Missense_Mutation_p.A183T|PHYH_ENST00000263038.4_Missense_Mutation_p.A283T			O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	283					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TCGGCACTGGCGAAATGGCAG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	98	103			NA	NA	10		NA											NA				13323092		2203	4300	6503	SO:0001583	missense				CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	5264	5264	1.14.11.18		8940	protein-coding gene	gene with protein product	Refsum disease, phytanoyl-CoA dioxygenase	602026	phytanoyl-CoA hydroxylase (Refsum disease), phytanoyl-CoA hydroxylase		NA	9326939	Standard		XM_005252469	NA	Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000396920.3:c.796G>A	10.37:g.13323092C>T	ENSP00000380126:p.Ala266Thr	NA	B1ALH5	37		.	.	.	.	.	.	.	.	.	.	C	16.91	3.251918	0.59212	.	.	ENSG00000107537	ENST00000396913;ENST00000263038;ENST00000396920	D;D;D	0.90133	-2.62;-2.62;-2.62	5.47	4.57	0.56435	.	0.051774	0.85682	D	0.000000	D	0.94863	0.8340	M	0.83223	2.63	0.80722	D	1	D;D	0.76494	0.997;0.999	P;D	0.65443	0.859;0.935	D	0.94949	0.8098	10	0.54805	T	0.06	-13.5846	14.1998	0.65696	0.0:0.9281:0.0:0.0719	.	266;283	B1ALH6;O14832	.;PAHX_HUMAN	T	183;283;266	ENSP00000380121:A183T;ENSP00000263038:A283T;ENSP00000380126:A266T	ENSP00000263038:A283T	A	-	1	0	PHYH	13363098	1.000000	0.71417	0.011000	0.14972	0.115000	0.19883	4.724000	0.61972	1.331000	0.45412	-0.229000	0.12294	GCC	PHYH-005	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000277005.1		-	ENST00000396920.3	Missense_Mutation	SNP	10 : 13323092 - 13323092 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	285	53
COL7A1	1294	broad.mit.edu	37	3	48631916	48631916	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48631916G>A	ENST00000328333.8	-	2	258	c.151C>T	c.(151-153)Cgc>Tgc	p.R51C	COL7A1_ENST00000454817.1_Missense_Mutation_p.R51C	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	51	Nonhelical region (NC1).|VWFA 1.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAATTGCTGCGGCCAATGGAT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM063914	COL7A1	M							45	40	41			NA	NA	3		NA											NA				48631916		2203	4300	6503	SO:0001583	missense			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270	1294	1294		Collagens, Fibronectin type III domain containing	2214	protein-coding gene	gene with protein product	collagen VII, alpha-1 polypeptide, LC collagen	120120	epidermolysis bullosa, dystrophic, dominant and recessive	EBDCT, EBD1, EBR1	NA	1871109	Standard	NM_000094	NM_000094	NA	Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.151C>T	3.37:g.48631916G>A	ENSP00000332371:p.Arg51Cys	NA	Q14054|Q16507	37	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.657006	0.47467	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.83673	-1.75;-1.75	4.88	4.88	0.63580	von Willebrand factor, type A (3);	0.000000	0.45606	D	0.000358	D	0.91955	0.7452	M	0.90977	3.165	0.52501	D	0.999955	D	0.89917	1.0	D	0.85130	0.997	D	0.92770	0.6231	10	0.62326	D	0.03	.	11.3221	0.49428	0.0:0.0:0.7699:0.2301	.	51	Q02388	CO7A1_HUMAN	C	51	ENSP00000332371:R51C;ENSP00000412569:R51C	ENSP00000332371:R51C	R	-	1	0	COL7A1	48606920	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.687000	0.46976	2.425000	0.82216	0.555000	0.69702	CGC	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257519.1		-	ENST00000328333.8	Missense_Mutation	SNP	3 : 48631916 - 48631916 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	204	44
ZNF701	55762	broad.mit.edu	37	19	53086349	53086349	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53086349G>T	ENST00000540331.1	+	5	1460	c.1235G>T	c.(1234-1236)aGa>aTa	p.R412I	ZNF701_ENST00000391785.3_Missense_Mutation_p.R346I|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Missense_Mutation_p.R412I	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AGACATAGGAGAATTCACACT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(89;451 1475 9611 20673 52284)							NA				0													92	94	93			NA	NA	19		NA											NA				53086349		2203	4300	6503	SO:0001583	missense			AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562	55762	55762		Zinc fingers, C2H2-type, -	25597	protein-coding gene	gene with protein product					NA		Standard	NM_018260	NM_018260	NA	Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.1235G>T	19.37:g.53086349G>T	ENSP00000444339:p.Arg412Ile	NA	A2RRM8|Q66K42	37	CCDS54311.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382750	0.25031	.	.	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	T;T;T	0.24908	1.83;1.83;1.83	1.87	-2.88	0.05682	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35480	0.0933	M	0.81341	2.54	0.09310	N	1	P;D	0.60575	0.619;0.988	B;P	0.56514	0.094;0.8	T	0.25537	-1.0129	9	0.45353	T	0.12	.	0.9989	0.01473	0.2602:0.1741:0.3898:0.1759	.	412;346	F5GZM6;Q9NV72	.;ZN701_HUMAN	I	346;412;412	ENSP00000375662:R346I;ENSP00000301093:R412I;ENSP00000444339:R412I	ENSP00000301093:R412I	R	+	2	0	ZNF701	57778161	0.000000	0.05858	0.007000	0.13788	0.008000	0.06430	-4.934000	0.00168	-0.245000	0.09625	-0.530000	0.04314	AGA	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463467.1		+	ENST00000540331.1	Missense_Mutation	SNP	19 : 53086349 - 53086349 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	716	138
ANO7	50636	broad.mit.edu	37	2	242155543	242155543	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242155543G>A	ENST00000274979.8	+	19	2127	c.2024G>A	c.(2023-2025)cGc>cAc	p.R675H	ANO7_ENST00000402430.3_Missense_Mutation_p.R674H	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	675						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						TTCCGGCTTCGCTCCAAGAAG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	70	68			NA	NA	2		NA											NA				242155543		2203	4300	6503	SO:0001583	missense			AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205	50636	50636		Ion channels / Chloride channels : Calcium activated : Anoctamins	31677	protein-coding gene	gene with protein product		605096	transmembrane protein 16G	PCANAP5, TMEM16G	NA	14981236, 15375614, 24692353	Standard	NM_001001891	NM_001001891	NA	Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.2024G>A	2.37:g.242155543G>A	ENSP00000274979:p.Arg675His	NA	Q6IWH6	37	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	G	9.358	1.067185	0.20067	.	.	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.64260	-0.09;-0.09	3.2	-1.18	0.09617	.	.	.	.	.	T	0.53238	0.1784	M	0.66506	2.035	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.47522	-0.9111	9	0.44086	T	0.13	.	4.0495	0.09788	0.3427:0.343:0.3142:0.0	.	675	Q6IWH7	ANO7_HUMAN	H	675;674	ENSP00000274979:R675H;ENSP00000385418:R674H	ENSP00000274979:R675H	R	+	2	0	ANO7	241804216	0.000000	0.05858	0.001000	0.08648	0.118000	0.20060	-1.133000	0.03232	-0.258000	0.09446	-0.363000	0.07495	CGC	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323509.1		+	ENST00000274979.8	Missense_Mutation	SNP	2 : 242155543 - 242155543 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	535	96
DNMT3B	1789	broad.mit.edu	37	20	31387092	31387092	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31387092C>T	ENST00000328111.2	+	16	2038	c.1717C>T	c.(1717-1719)Cgg>Tgg	p.R573W	DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000201963.3_Missense_Mutation_p.R565W|DNMT3B_ENST00000443239.3_Missense_Mutation_p.R511W|DNMT3B_ENST00000353855.2_Missense_Mutation_p.R553W|DNMT3B_ENST00000348286.2_Missense_Mutation_p.R553W|DNMT3B_ENST00000344505.4_Missense_Mutation_p.R553W|DNMT3B_ENST00000456297.2_Missense_Mutation_p.R477W	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	573					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGCCCGAAGGCGGCCCATTCG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	58	61			NA	NA	20		NA											NA				31387092		2203	4300	6503	SO:0001583	missense				CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305	1789	1789			2979	protein-coding gene	gene with protein product		602900			NA	9662389, 10433969	Standard	NM_006892	NM_006892	NA	Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1717C>T	20.37:g.31387092C>T	ENSP00000328547:p.Arg573Trp	NA	A2A2E2|E1P5M6|E1P5M7|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	37	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238001	0.79800	.	.	ENSG00000088305	ENST00000328111;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	T;T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.97	2.59	0.31030	.	0.057019	0.64402	D	0.000002	D	0.86615	0.5975	M	0.74258	2.255	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.987;0.995;0.995;0.998;0.998;0.998;0.977	D	0.88022	0.2769	10	0.87932	D	0	-19.9396	14.2197	0.65818	0.5264:0.4736:0.0:0.0	.	477;511;272;565;553;553;573	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	W	573;553;553;511;477;553;565	ENSP00000328547:R573W;ENSP00000313397:R553W;ENSP00000337764:R553W;ENSP00000403169:R511W;ENSP00000412305:R477W;ENSP00000345105:R553W;ENSP00000201963:R565W	ENSP00000201963:R565W	R	+	1	2	DNMT3B	30850753	0.954000	0.32549	1.000000	0.80357	0.995000	0.86356	0.554000	0.23407	0.800000	0.34041	-0.169000	0.13324	CGG	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078643.2		+	ENST00000328111.2	Missense_Mutation	SNP	20 : 31387092 - 31387092 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	119	19
EPG5	57724	broad.mit.edu	37	18	43484027	43484027	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43484027G>T	ENST00000282041.5	-	25	4419	c.4385C>A	c.(4384-4386)aCt>aAt	p.T1462N	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1462					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CAGACCAACAGTCTCCTGAAA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	140	141			NA	NA	18		NA											NA				43484027		2006	4177	6183	SO:0001583	missense			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223	57724	57724			29331	protein-coding gene	gene with protein product		615068	KIAA1632	KIAA1632	NA	10997877, 20550938	Standard	NM_020964	XM_005258323	NA	Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.4385C>A	18.37:g.43484027G>T	ENSP00000282041:p.Thr1462Asn	NA	A2BDF3|Q9H8C8	37	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371606	0.42003	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.09911	2.93	6.17	5.3	0.74995	.	.	.	.	.	T	0.11067	0.0270	L	0.29908	0.895	0.09310	N	0.999998	B	0.26258	0.145	B	0.23716	0.048	T	0.19484	-1.0304	9	0.62326	D	0.03	-1.2992	15.5098	0.75772	0.0658:0.0:0.9342:0.0	.	1462	Q9HCE0	EPG5_HUMAN	N	1462;337	ENSP00000282041:T1462N	ENSP00000282041:T1462N	T	-	2	0	EPG5	41738025	0.924000	0.31332	0.014000	0.15608	0.896000	0.52359	3.313000	0.51935	1.621000	0.50320	0.655000	0.94253	ACT	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445081.1		-	ENST00000282041.5	Missense_Mutation	SNP	18 : 43484027 - 43484027 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	400	16
POSTN	10631	broad.mit.edu	37	13	38138654	38138654	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38138654A>G	ENST00000379747.4	-	22	2591		c.e22+1		POSTN_ENST00000541179.1_Splice_Site|POSTN_ENST00000379749.4_Splice_Site|POSTN_ENST00000379743.4_Splice_Site|POSTN_ENST00000379742.4_Splice_Site|POSTN_ENST00000541481.1_Splice_Site	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	NA					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CAATACACTTACCTTGAACTT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													177	160	166			NA	NA	13		NA											NA				38138654		2203	4299	6502	SO:0001630	splice_region_variant			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110	10631	10631			16953	protein-coding gene	gene with protein product		608777			NA	8363580, 12235007	Standard	NM_006475	NM_006475	NA	Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.2473+1T>C	13.37:g.38138654A>G		NA	Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	37	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	A	6.781	0.513056	0.12944	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	.	.	.	5.32	2.84	0.33178	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.269	0.26246	0.7765:0.1462:0.0773:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	POSTN	37036654	1.000000	0.71417	0.992000	0.48379	0.091000	0.18340	3.135000	0.50546	0.403000	0.25479	0.454000	0.30748	.	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044566.2	Intron	-	ENST00000379747.4	Splice_Site	SNP	13 : 38138654 - 38138654 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	10
STAT6	6778	broad.mit.edu	37	12	57493091	57493091	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57493091C>T	ENST00000537215.2	-	15	1991	c.1547G>A	c.(1546-1548)cGg>cAg	p.R516Q	STAT6_ENST00000538913.2_Missense_Mutation_p.R516Q|STAT6_ENST00000556155.1_Missense_Mutation_p.R626Q|STAT6_ENST00000543873.2_Missense_Mutation_p.R626Q|STAT6_ENST00000454075.3_Missense_Mutation_p.R626Q|STAT6_ENST00000300134.3_Missense_Mutation_p.R626Q	NM_001178080.1	NP_001171551.1	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	626					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GTAGTGGCTCCGGAAAGCCTC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	95	94			NA	NA	12		NA											NA				57493091		2203	4300	6503	SO:0001583	missense			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888	6778	6778		SH2 domain containing	11368	protein-coding gene	gene with protein product		601512			NA	9605853, 8085155	Standard	NM_003153	NM_003153	NA	Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000537215.2:c.1547G>A	12.37:g.57493091C>T	ENSP00000444530:p.Arg516Gln	NA	A8K316|Q5FBW5|Q71UP4	37	CCDS53804.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610067	0.46527	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000555318;ENST00000542516	D;D;D;D;D;D;D	0.96491	-4.03;-4.03;-4.03;-4.03;-4.03;-4.03;-4.03	4.8	4.8	0.61643	SH2 motif (2);	0.203658	0.43416	D	0.000561	D	0.88959	0.6579	N	0.12182	0.205	0.36482	D	0.867902	B;P	0.44946	0.154;0.846	B;B	0.27380	0.01;0.079	D	0.92008	0.5616	10	0.45353	T	0.12	-18.9484	15.7354	0.77839	0.0:1.0:0.0:0.0	.	626;626	A8K4S9;P42226	.;STAT6_HUMAN	Q	626;516;516;626;626;516;626;516;54;626	ENSP00000300134:R626Q;ENSP00000445409:R516Q;ENSP00000438451:R626Q;ENSP00000451742:R626Q;ENSP00000444530:R516Q;ENSP00000401486:R626Q;ENSP00000450428:R54Q	ENSP00000300134:R626Q	R	-	2	0	STAT6	55779358	0.961000	0.32948	1.000000	0.80357	0.991000	0.79684	1.989000	0.40707	2.664000	0.90586	0.561000	0.74099	CGG	STAT6-006	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412254.1		-	ENST00000537215.2	Missense_Mutation	SNP	12 : 57493091 - 57493091 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	606	133
AQR	9716	broad.mit.edu	37	15	35196597	35196597	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:35196597C>A	ENST00000156471.5	-	19	2166	c.1941G>T	c.(1939-1941)gaG>gaT	p.E647D		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	647						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		CATACACATCCTCTGCTCCAT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	95	98			NA	NA	15		NA											NA				35196597		1805	4065	5870	SO:0001583	missense			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776	9716	9716			29513	protein-coding gene	gene with protein product	functional spliceosome-associated protein 164	610548	aquarius homolog (mouse)		NA	9626505, 16949364	Standard	NM_014691	NM_014691	NA	Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.1941G>T	15.37:g.35196597C>A	ENSP00000156471:p.Glu647Asp	NA	A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	37	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.780978	0.31502	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.94138	-3.36	5.26	1.72	0.24424	.	0.000000	0.85682	D	0.000000	D	0.86306	0.5901	L	0.33710	1.025	0.40691	D	0.982397	B	0.12630	0.006	B	0.16289	0.015	T	0.76080	-0.3090	10	0.22109	T	0.4	-18.8299	7.9653	0.30095	0.0:0.3197:0.0:0.6803	.	647	O60306	AQR_HUMAN	D	647	ENSP00000156471:E647D	ENSP00000156471:E647D	E	-	3	2	AQR	32983889	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.569000	0.45973	0.413000	0.25759	-0.302000	0.09304	GAG	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417526.2		-	ENST00000156471.5	Missense_Mutation	SNP	15 : 35196597 - 35196597 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	311	46
KRT79	338785	broad.mit.edu	37	12	53224076	53224076	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53224076C>T	ENST00000330553.5	-	3	733	c.699G>A	c.(697-699)aaG>aaA	p.K233K		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	233	Coil 1B.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CATCCTCGTACCTGTTACACA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	119	131			NA	NA	12		NA											NA				53224076		2203	4300	6503	SO:0001630	splice_region_variant			AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640	338785	338785		-, Intermediate filaments type II, keratins (basic)	28930	protein-coding gene	gene with protein product	keratin 6-like	611160			NA	11683385	Standard	NM_175834	NM_175834	NA	Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.699-1G>A	12.37:g.53224076C>T		NA	Q6P465|Q7Z793	37	CCDS8839.1																																																																																			KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406376.1	Silent	-	ENST00000330553.5	Splice_Site	SNP	12 : 53224076 - 53224076 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	494	72
PSMD1	5707	broad.mit.edu	37	2	231927275	231927275	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231927275G>A	ENST00000308696.6	+	4	352	c.190G>A	c.(190-192)Gca>Aca	p.A64T	PSMD1_ENST00000373635.4_Missense_Mutation_p.A64T|PSMD1_ENST00000409643.1_Missense_Mutation_p.A64T	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	64					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	AGCCTTAGTGGCATCTAAAGT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	95	94			NA	NA	2		NA											NA				231927275		2203	4300	6503	SO:0001583	missense			D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692	5707	5707		Proteasome (prosome, macropain) subunits	9554	protein-coding gene	gene with protein product					NA	8816993	Standard		NM_002807	NA	Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.190G>A	2.37:g.231927275G>A	ENSP00000309474:p.Ala64Thr	NA	B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	37	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	G	36	5.640935	0.96693	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000440838;ENST00000409643	T;T;T	0.32515	1.45;1.45;1.45	6.08	6.08	0.98989	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.47229	0.1434	M	0.78637	2.42	0.80722	D	1	P;D	0.58268	0.691;0.982	B;P	0.47470	0.259;0.548	T	0.45249	-0.9274	10	0.48119	T	0.1	-5.3206	20.6634	0.99662	0.0:0.0:1.0:0.0	.	64;64	Q99460;Q99460-2	PSMD1_HUMAN;.	T	64	ENSP00000309474:A64T;ENSP00000362738:A64T;ENSP00000386932:A64T	ENSP00000309474:A64T	A	+	1	0	PSMD1	231635519	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.894000	0.99253	0.655000	0.94253	GCA	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256958.2		+	ENST00000308696.6	Missense_Mutation	SNP	2 : 231927275 - 231927275 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	629	158
KRT27	342574	broad.mit.edu	37	17	38933853	38933853	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38933853C>A	ENST00000301656.3	-	6	1144	c.1104G>T	c.(1102-1104)aaG>aaT	p.K368N	KRT27_ENST00000540723.1_5'UTR	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	368	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CATACTCGAGCTTCTGGCCCT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	154	154			NA	NA	17		NA											NA				38933853		2203	4300	6503	SO:0001583	missense			AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446	342574	342574		-, Intermediate filaments type I, keratins (acidic)	30841	protein-coding gene	gene with protein product			keratin 25C	KRT25C	NA	16831889	Standard	NM_181537	NM_181537	NA	Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.1104G>T	17.37:g.38933853C>A	ENSP00000301656:p.Lys368Asn	NA		37	CCDS11375.1	.	.	.	.	.	.	.	.	.	.	C	1.307	-0.603277	0.03744	.	.	ENSG00000171446	ENST00000301656	D	0.88046	-2.33	5.56	-6.61	0.01818	Filament (1);	0.000000	0.64402	D	0.000002	T	0.62600	0.2441	N	0.03000	-0.44	0.09310	N	0.999994	B	0.22080	0.064	B	0.26614	0.071	T	0.58951	-0.7545	10	0.02654	T	1	.	13.8548	0.63519	0.0:0.615:0.136:0.2491	.	368	Q7Z3Y8	K1C27_HUMAN	N	368	ENSP00000301656:K368N	ENSP00000301656:K368N	K	-	3	2	KRT27	36187379	0.000000	0.05858	0.846000	0.33378	0.839000	0.47603	-2.826000	0.00746	-1.254000	0.02485	-0.145000	0.13849	AAG	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257216.1		-	ENST00000301656.3	Missense_Mutation	SNP	17 : 38933853 - 38933853 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1251	113
MEGF10	84466	broad.mit.edu	37	5	126771137	126771137	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:126771137C>T	ENST00000274473.6	+	17	2327	c.2060C>T	c.(2059-2061)tCt>tTt	p.S687F	MEGF10_ENST00000503335.2_Missense_Mutation_p.S687F	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	687	EGF-like 12.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ATTGACAGATCTTGTCAGTGT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	98	105			NA	NA	5		NA											NA				126771137		2203	4300	6503	SO:0001583	missense			AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794	84466	84466			29634	protein-coding gene	gene with protein product		612453			NA	11347906	Standard	NM_032446	NM_032446	NA	Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.2060C>T	5.37:g.126771137C>T	ENSP00000274473:p.Ser687Phe	NA	Q68DE5|Q8WUL3	37	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	C	33	5.254404	0.95336	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	T;T	0.56941	0.43;0.43	6.04	6.04	0.98038	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	T	0.77054	0.4074	M	0.87758	2.905	0.80722	D	1	D	0.65815	0.995	D	0.65233	0.933	T	0.78226	-0.2286	10	0.56958	D	0.05	-22.7363	20.5948	0.99439	0.0:1.0:0.0:0.0	.	687	Q96KG7	MEG10_HUMAN	F	687	ENSP00000423354:S687F;ENSP00000274473:S687F	ENSP00000274473:S687F	S	+	2	0	MEGF10	126799036	1.000000	0.71417	0.981000	0.43875	0.989000	0.77384	7.747000	0.85070	2.873000	0.98535	0.563000	0.77884	TCT	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250973.2		+	ENST00000274473.6	Missense_Mutation	SNP	5 : 126771137 - 126771137 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	180	36
MC2R	4158	broad.mit.edu	37	18	13884791	13884791	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13884791T>C	ENST00000327606.3	-	2	907	c.727A>G	c.(727-729)Aca>Gca	p.T243A		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	243					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	GGGCAGAATGTCATCAAGAGG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(141;1584 1782 35999 48227 48692)							NA				0													82	75	77			NA	NA	18		NA											NA				13884791		2203	4300	6503	SO:0001583	missense				CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231	NA	4158		GPCR / Class A : Melanocortin receptors	6930	protein-coding gene	gene with protein product		607397			NA	8390157	Standard		NM_001291911	NA	Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.727A>G	18.37:g.13884791T>C	ENSP00000333821:p.Thr243Ala	NA	Q3MI45|Q504X6	37	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	T	16.05	3.013816	0.54468	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	T	0.35789	1.29	5.18	4.01	0.46588	GPCR, rhodopsin-like superfamily (1);	0.206931	0.49916	D	0.000128	T	0.25938	0.0632	N	0.25144	0.715	0.26256	N	0.978658	P	0.39424	0.673	B	0.40702	0.338	T	0.10730	-1.0617	10	0.66056	D	0.02	.	8.1081	0.30898	0.0:0.1569:0.0:0.8431	.	243	Q01718	ACTHR_HUMAN	A	243	ENSP00000333821:T243A	ENSP00000333821:T243A	T	-	1	0	MC2R	13874791	1.000000	0.71417	0.991000	0.47740	0.975000	0.68041	3.002000	0.49496	0.806000	0.34183	0.533000	0.62120	ACA	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254639.2		-	ENST00000327606.3	Missense_Mutation	SNP	18 : 13884791 - 13884791 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	58
KIAA1217	56243	broad.mit.edu	37	10	24813290	24813290	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24813290C>T	ENST00000307544.6	+	8	1876	c.1544C>T	c.(1543-1545)gCc>gTc	p.A515V	KIAA1217_ENST00000458595.1_Missense_Mutation_p.A797V|KIAA1217_ENST00000376451.2_Missense_Mutation_p.A515V|KIAA1217_ENST00000376462.1_Missense_Mutation_p.A752V|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376452.3_Missense_Mutation_p.A797V|KIAA1217_ENST00000376454.3_Missense_Mutation_p.A832V|KIAA1217_ENST00000396446.1_Missense_Mutation_p.A515V|KIAA1217_ENST00000396445.1_Missense_Mutation_p.A515V	NM_001282769.1	NP_001269698.1	Q5T5P2	SKT_HUMAN	KIAA1217	832					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ACGGACGCAGCCCAAGCCGCA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	75	74			NA	NA	10		NA											NA				24813290		2203	4300	6503	SO:0001583	missense			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549	56243	56243			25428	protein-coding gene	gene with protein product	sickle tail				NA	10574462	Standard	NM_019590	XM_005252500	NA	Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000307544.6:c.1544C>T	10.37:g.24813290C>T	ENSP00000302343:p.Ala515Val	NA	A5LHW9|A6PVQ5|A6PVQ6|A6PVQ7|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	37		.	.	.	.	.	.	.	.	.	.	C	11.30	1.598899	0.28445	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59	5.61	5.61	0.85477	.	0.937129	0.09094	N	0.849465	T	0.44477	0.1295	L	0.29908	0.895	0.25320	N	0.989121	B;B;B;B;P;B;P;B	0.43477	0.383;0.098;0.383;0.011;0.707;0.383;0.808;0.328	B;B;B;B;B;B;B;B	0.40864	0.124;0.021;0.124;0.028;0.318;0.248;0.342;0.178	T	0.23583	-1.0184	10	0.18276	T	0.48	.	14.4641	0.67472	0.1471:0.8529:0.0:0.0	.	797;797;515;515;515;515;832;832	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	V	752;797;797;515;832;797;647;515;515;515;515;515	ENSP00000365645:A752V;ENSP00000365639:A797V;ENSP00000392625:A797V;ENSP00000365637:A832V;ENSP00000365635:A797V;ENSP00000404798:A647V;ENSP00000302343:A515V;ENSP00000379722:A515V;ENSP00000365634:A515V;ENSP00000379723:A515V	ENSP00000302343:A515V	A	+	2	0	KIAA1217	24853296	0.042000	0.20092	0.987000	0.45799	0.222000	0.24845	2.307000	0.43682	2.643000	0.89663	0.561000	0.74099	GCC	KIAA1217-001	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000047220.2		+	ENST00000307544.6	Missense_Mutation	SNP	10 : 24813290 - 24813290 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	499	20
GHR	2690	broad.mit.edu	37	5	42695175	42695175	+	Missense_Mutation	SNP	C	C	A	rs45501892		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:42695175C>A	ENST00000230882.4	+	5	613	c.423C>A	c.(421-423)ttC>ttA	p.F141L	GHR_ENST00000357703.3_Missense_Mutation_p.F119L|GHR_ENST00000537449.1_5'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	141					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AAAAGTGTTTCTCTGTTGATG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	90	91			NA	NA	5		NA											NA				42695175		2203	4300	6503	SO:0001583	missense				CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964	2690	2690		Fibronectin type III domain containing	4263	protein-coding gene	gene with protein product	growth hormone binding protein	600946			NA		Standard	NM_000163	NM_001242460	NA	Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.423C>A	5.37:g.42695175C>A	ENSP00000230882:p.Phe141Leu	NA	Q9HCX2	37	CCDS3940.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087062	0.76642	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000356276	D;D	0.95918	-3.85;-3.85	5.14	5.14	0.70334	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.97520	0.9188	M	0.79805	2.47	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.97849	1.0273	10	0.62326	D	0.03	-12.8885	15.3502	0.74376	0.0:0.8601:0.1399:0.0	.	141	P10912	GHR_HUMAN	L	141;119;141	ENSP00000230882:F141L;ENSP00000350335:F119L	ENSP00000230882:F141L	F	+	3	2	GHR	42730932	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	3.603000	0.54074	2.537000	0.85549	0.585000	0.79938	TTC	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000211605.2		+	ENST00000230882.4	Missense_Mutation	SNP	5 : 42695175 - 42695175 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	211	38
EFTUD1	79631	broad.mit.edu	37	15	82444692	82444692	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:82444692T>G	ENST00000268206.7	-	18	2271	c.2103A>C	c.(2101-2103)aaA>aaC	p.K701N	EFTUD1_ENST00000359445.3_Missense_Mutation_p.K650N	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	701					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						CCATGTCAACTTTTGGGGGTT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	147	147			NA	NA	15		NA											NA				82444692		1830	4087	5917	SO:0001583	missense			AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598	79631	79631			25789	protein-coding gene	gene with protein product	ribosome assembly 1 homolog (yeast)				NA	14702039	Standard	NM_024580	NM_024580	NA	Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.2103A>C	15.37:g.82444692T>G	ENSP00000268206:p.Lys701Asn	NA	A6NKY5|B7Z6I0|Q9H8Z6	37	CCDS42071.1	.	.	.	.	.	.	.	.	.	.	T	17.33	3.361645	0.61403	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.26957	1.7;1.7	5.73	3.43	0.39272	Ribosomal protein S5 domain 2-type fold (1);	0.157020	0.28766	N	0.014218	T	0.24509	0.0594	N	0.10809	0.05	0.58432	D	0.999998	P;P	0.52692	0.954;0.955	P;P	0.58928	0.848;0.839	T	0.03034	-1.1080	10	0.37606	T	0.19	-7.7117	10.1789	0.42955	0.0:0.135:0.0:0.865	.	650;701	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	N	701;650	ENSP00000268206:K701N;ENSP00000352418:K650N	ENSP00000268206:K701N	K	-	3	2	EFTUD1	80231747	1.000000	0.71417	0.749000	0.31150	0.988000	0.76386	1.473000	0.35387	0.445000	0.26639	-0.400000	0.06385	AAA	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419252.1		-	ENST00000268206.7	Missense_Mutation	SNP	15 : 82444692 - 82444692 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	874	135
TLR9	54106	broad.mit.edu	37	3	52257562	52257562	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52257562C>T	ENST00000494383.1	-	5	1229	c.1230G>A	c.(1228-1230)ccG>ccA	p.P410P	TLR9_ENST00000360658.2_Missense_Mutation_p.R257H|TLR9_ENST00000597542.1_Missense_Mutation_p.R281H			Q9NR96	TLR9_HUMAN	toll-like receptor 9	274					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GTGGTCGCAGCGGCGGCAATT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	34	36			NA	NA	3		NA											NA				52257562		2203	4300	6503	SO:0001819	synonymous_variant			AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732	54106	54106		CD molecules	15633	protein-coding gene	gene with protein product		605474			NA	11022119	Standard		NM_017442	NA	Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000494383.1:c.1230G>A	3.37:g.52257562C>T		NA	B3Y661|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	37		.	.	.	.	.	.	.	.	.	.	C	25.3	4.622972	0.87460	.	.	ENSG00000239732	ENST00000360658	T	0.19105	2.17	5.38	5.38	0.77491	.	0.000000	0.32548	N	0.005945	T	0.52273	0.1724	M	0.86178	2.8	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.58999	-0.7536	10	0.87932	D	0	.	16.6158	0.84915	0.0:1.0:0.0:0.0	.	354;257	B4E0A1;Q9NR96	.;TLR9_HUMAN	H	257	ENSP00000353874:R257H	ENSP00000353874:R257H	R	-	2	0	TLR9	52232602	1.000000	0.71417	0.990000	0.47175	0.424000	0.31475	7.427000	0.80284	2.521000	0.84997	0.655000	0.94253	CGC	TLR9-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000367019.1		-	ENST00000494383.1	Silent	SNP	3 : 52257562 - 52257562 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	181	28
PAQR8	85315	broad.mit.edu	37	6	52268034	52268034	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52268034G>A	ENST00000442253.2	+	2	197	c.23G>A	c.(22-24)cGc>cAc	p.R8H	PAQR8_ENST00000360726.3_Missense_Mutation_p.R8H	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	8					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	p.R8H(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					ATCTTGGAGCGCCTGAGCACC	0.622		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)											27	26	27			NA	NA	6		NA											NA				52268034		2202	4298	6500	SO:0001583	missense			AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915	85315	85315			15708	protein-coding gene	gene with protein product		607780	chromosome 6 open reading frame 33	C6orf33	NA	11676489, 12574519	Standard	NM_133367	NM_133367	NA	Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.23G>A	6.37:g.52268034G>A	ENSP00000406197:p.Arg8His	NA	B2RCF6|Q86WL0|Q8N6D3|Q9HD02	37	CCDS4941.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013836	0.54468	.	.	ENSG00000170915	ENST00000512121;ENST00000442253;ENST00000360726	T;T;T	0.48201	0.82;1.85;1.85	5.3	4.37	0.52481	.	0.057774	0.64402	D	0.000002	T	0.29355	0.0731	L	0.57536	1.79	0.53688	D	0.999971	B	0.15719	0.014	B	0.14023	0.01	T	0.26710	-1.0095	10	0.72032	D	0.01	-26.5311	11.8411	0.52355	0.0921:0.0:0.9079:0.0	.	8	Q8TEZ7	MPRB_HUMAN	H	8	ENSP00000427161:R8H;ENSP00000406197:R8H;ENSP00000353953:R8H	ENSP00000353953:R8H	R	+	2	0	PAQR8	52375993	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.373000	0.52394	1.105000	0.41606	0.655000	0.94253	CGC	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040903.2		+	ENST00000442253.2	Missense_Mutation	SNP	6 : 52268034 - 52268034 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	182	35
WSB2	55884	broad.mit.edu	37	12	118474256	118474256	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:118474256G>T	ENST00000441406.2	-	6	782	c.771C>A	c.(769-771)agC>agA	p.S257R	WSB2_ENST00000315436.3_Missense_Mutation_p.S240R|WSB2_ENST00000542304.1_Missense_Mutation_p.S15R|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000544233.1_Missense_Mutation_p.S30R|WSB2_ENST00000535496.1_Missense_Mutation_p.S242R			Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	240					intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGACAACACTGCTTTGATGGC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	158	165			NA	NA	12		NA											NA				118474256		2203	4300	6503	SO:0001583	missense			AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871	55884	55884		WD repeat domain containing	19222	protein-coding gene	gene with protein product			WD repeat and SOCS box-containing 2		NA	12076535	Standard	NM_018639	NM_018639	NA	Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000441406.2:c.771C>A	12.37:g.118474256G>T	ENSP00000409131:p.Ser257Arg	NA	Q9NRX9	37		.	.	.	.	.	.	.	.	.	.	G	17.75	3.467308	0.63625	.	.	ENSG00000176871	ENST00000315436;ENST00000542304;ENST00000441406;ENST00000544233;ENST00000535496;ENST00000537945	T;T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04;4.9	5.66	4.78	0.61160	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.085373	0.85682	D	0.000000	T	0.47728	0.1461	N	0.21240	0.645	0.48696	D	0.99969	B	0.30211	0.273	B	0.28709	0.093	T	0.41734	-0.9492	10	0.31617	T	0.26	-20.5	14.048	0.64716	0.0728:0.0:0.9272:0.0	.	240	Q9NYS7	WSB2_HUMAN	R	240;15;257;30;242;242	ENSP00000319474:S240R;ENSP00000445941:S15R;ENSP00000409131:S257R;ENSP00000444431:S30R;ENSP00000439450:S242R;ENSP00000440386:S242R	ENSP00000319474:S240R	S	-	3	2	WSB2	116958639	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.032000	0.57274	1.395000	0.46643	0.655000	0.94253	AGC	WSB2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000401516.1		-	ENST00000441406.2	Missense_Mutation	SNP	12 : 118474256 - 118474256 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	624	124
MYZAP	100820829	broad.mit.edu	37	15	57913875	57913875	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:57913875C>T	ENST00000267853.5	+	4	482	c.388C>T	c.(388-390)Cga>Tga	p.R130*	GCOM1_ENST00000380561.2_Intron|GCOM1_ENST00000587652.1_Nonsense_Mutation_p.R130*|GCOM1_ENST00000574161.1_Nonsense_Mutation_p.R130*|MYZAP_ENST00000380565.4_Nonsense_Mutation_p.R130*|POLR2M_ENST00000380563.2_Intron|GCOM1_ENST00000572390.1_Nonsense_Mutation_p.R130*|GCOM1_ENST00000380568.3_Nonsense_Mutation_p.R130*|GCOM1_ENST00000380569.2_Nonsense_Mutation_p.R130*|GCOM1_ENST00000396180.1_Intron|GCOM1_ENST00000380560.2_Intron					myocardial zonula adherens protein	NA											NA						ACAGAAGATTCGACAGCTCAC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	122	127			NA	NA	15		NA											NA				57913875		2192	4292	6484	SO:0001587	stop_gained			FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155	100820829	100820829			43444	protein-coding gene	gene with protein product	myocardium-enriched zonula adherens protein	614071			NA	20093627, 21992629, 22160502	Standard	NM_001018100	NM_001018100	NA	Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.388C>T	15.37:g.57913875C>T	ENSP00000267853:p.Arg130*	NA		37	CCDS10162.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255429	0.59321	.	.	ENSG00000137878	ENST00000380569;ENST00000267853;ENST00000380565;ENST00000380568	.	.	.	5.66	4.68	0.58851	.	0.242441	0.41938	D	0.000792	.	.	.	.	.	.	0.31469	N	0.668644	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-1.2411	8.742	0.34562	0.2593:0.6028:0.138:0.0	.	.	.	.	X	130	.	ENSP00000267853:R130X	R	+	1	2	GCOM1	55701167	0.064000	0.20934	0.931000	0.37212	0.058000	0.15608	1.522000	0.35921	2.827000	0.97445	0.643000	0.83706	CGA	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255716.2		+	ENST00000267853.5	Nonsense_Mutation	SNP	15 : 57913875 - 57913875 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	337	60
MFSD6L	162387	broad.mit.edu	37	17	8702270	8702270	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8702270G>T	ENST00000329805.4	-	1	397	c.169C>A	c.(169-171)Cta>Ata	p.L57I		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	57						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						GCAGCGATTAGGTGCTTGGTT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	57	55			NA	NA	17		NA											NA				8702270		2203	4300	6503	SO:0001583	missense			AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156	162387	162387			26656	protein-coding gene	gene with protein product					NA		Standard	NM_152599	NM_152599	NA	Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.169C>A	17.37:g.8702270G>T	ENSP00000330051:p.Leu57Ile	NA	Q6YL34|Q8NA76	37	CCDS11146.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798281	0.70567	.	.	ENSG00000185156	ENST00000329805	D	0.84442	-1.85	4.47	3.42	0.39159	Major facilitator superfamily domain, general substrate transporter (1);	0.222943	0.29369	N	0.012358	D	0.86707	0.5997	M	0.70595	2.14	0.33418	D	0.57947	D	0.64830	0.994	D	0.66716	0.946	D	0.83921	0.0301	10	0.09338	T	0.73	-9.7704	3.8006	0.08757	0.1738:0.2465:0.5797:0.0	.	57	Q8IWD5	MFS6L_HUMAN	I	57	ENSP00000330051:L57I	ENSP00000330051:L57I	L	-	1	2	MFSD6L	8642995	1.000000	0.71417	0.993000	0.49108	0.930000	0.56654	2.524000	0.45589	2.302000	0.77476	0.655000	0.94253	CTA	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442554.1		-	ENST00000329805.4	Missense_Mutation	SNP	17 : 8702270 - 8702270 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	418	77
SEL1L2	80343	broad.mit.edu	37	20	13868619	13868619	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13868619G>T	ENST00000284951.5	-	7	706	c.632C>A	c.(631-633)gCt>gAt	p.A211D	SEL1L2_ENST00000378072.5_Missense_Mutation_p.A211D|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	211						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GTTTCCTCCAGCACTTCCAAA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	63	65			NA	NA	20		NA											NA				13868619		1824	4082	5906	SO:0001583	missense			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251	80343	80343			15897	protein-coding gene	gene with protein product		614289	chromosome 20 open reading frame 50	C20orf50	NA		Standard	NM_025229	NM_001271539	NA	Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.632C>A	20.37:g.13868619G>T	ENSP00000284951:p.Ala211Asp	NA		37		.	.	.	.	.	.	.	.	.	.	G	19.56	3.851123	0.71719	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.44083	0.93;0.93	5.58	4.63	0.57726	Tetratricopeptide-like helical (1);	0.470461	0.19972	N	0.101948	T	0.41282	0.1152	N	0.17723	0.515	0.35851	D	0.826768	D;D	0.69078	0.982;0.997	P;D	0.67548	0.796;0.952	T	0.25328	-1.0135	10	0.12430	T	0.62	-6.6926	9.3908	0.38372	0.0946:0.0:0.9054:0.0	.	211;211	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	D	211	ENSP00000367312:A211D;ENSP00000284951:A211D	ENSP00000284951:A211D	A	-	2	0	SEL1L2	13816619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.461000	0.53035	2.615000	0.88500	0.650000	0.86243	GCT	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000078067.3		-	ENST00000284951.5	Missense_Mutation	SNP	20 : 13868619 - 13868619 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	260	40
EVPL	2125	broad.mit.edu	37	17	74013961	74013961	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74013961C>A	ENST00000301607.3	-	14	1822	c.1569G>T	c.(1567-1569)caG>caT	p.Q523H	EVPL_ENST00000586740.1_Missense_Mutation_p.Q545H	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	523	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCTTCTGGGCCTGTGGGTTGG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	47	45			NA	NA	17		NA											NA				74013961		2203	4300	6503	SO:0001583	missense			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880	2125	2125			3503	protein-coding gene	gene with protein product		601590			NA	8938451, 10409435	Standard	NM_001988	NM_001988	NA	Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.1569G>T	17.37:g.74013961C>A	ENSP00000301607:p.Gln523His	NA	A0AUV5	37	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.703153	0.30232	.	.	ENSG00000167880	ENST00000301607	T	0.68181	-0.31	4.88	0.285	0.15705	.	0.177195	0.49916	N	0.000121	T	0.50240	0.1604	L	0.51914	1.62	0.34965	D	0.752622	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.40213	-0.9575	10	0.22706	T	0.39	-33.1096	4.0054	0.09598	0.3073:0.4617:0.0:0.231	.	545;523	B7ZLH8;Q92817	.;EVPL_HUMAN	H	523	ENSP00000301607:Q523H	ENSP00000301607:Q523H	Q	-	3	2	EVPL	71525556	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	0.576000	0.23744	0.584000	0.29591	-0.226000	0.12346	CAG	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449483.1		-	ENST00000301607.3	Missense_Mutation	SNP	17 : 74013961 - 74013961 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	436	49
MMS22L	253714	broad.mit.edu	37	6	97634384	97634384	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:97634384T>G	ENST00000275053.4	-	15	2487	c.2222A>C	c.(2221-2223)gAt>gCt	p.D741A	MMS22L_ENST00000369251.2_Missense_Mutation_p.D701A	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	741					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGCAGCTGCATCCGCAAGTTG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	50	50			NA	NA	6		NA											NA				97634384		2203	4300	6503	SO:0001583	missense				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263	253714	253714			21475	protein-coding gene	gene with protein product		615614	chromosome 6 open reading frame 167	C6orf167	NA	21055983, 21055984	Standard	NM_198468	NM_198468	NA	Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.2222A>C	6.37:g.97634384T>G	ENSP00000275053:p.Asp741Ala	NA	D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	37	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	T	17.12	3.307784	0.60305	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.29655	1.89;1.56	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.46756	0.1409	M	0.71581	2.175	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.993	T	0.52388	-0.8582	10	0.72032	D	0.01	-5.8147	14.969	0.71217	0.0:0.0:0.0:1.0	.	701;741	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	A	741;701	ENSP00000275053:D741A;ENSP00000358254:D701A	ENSP00000275053:D741A	D	-	2	0	MMS22L	97741105	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	4.257000	0.58816	2.006000	0.58801	0.477000	0.44152	GAT	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041573.3		-	ENST00000275053.4	Missense_Mutation	SNP	6 : 97634384 - 97634384 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	15
NPAP1	23742	broad.mit.edu	37	15	24924410	24924410	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:24924410A>C	ENST00000329468.2	+	1	3870	c.3396A>C	c.(3394-3396)aaA>aaC	p.K1132N		NM_018958.2	NP_061831.2			nuclear pore associated protein 1	NA											NA						CAGAGAGAAAATTCTACACTT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								A	ASN/LYS	0,4406		0,0,2203	126	111	116		3396	-4.1	0	15		116	1,8599		0,1,4299	no	missense	C15orf2	NM_018958.2	94	0,1,6502	CC,CA,AA	NA	0.0116,0.0,0.0077	possibly-damaging	1132/1157	24924410	1,13005	2203	4300	6503	SO:0001583	missense			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823	23742	23742			1190	protein-coding gene	gene with protein product		610922	chromosome 15 open reading frame 2	C15orf2	NA	10783265, 22694955	Standard	NM_018958	NM_018958	NA	Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.3396A>C	15.37:g.24924410A>C	ENSP00000333735:p.Lys1132Asn	NA		37	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	11.27	1.588436	0.28357	0.0	1.16E-4	ENSG00000185823	ENST00000329468	T	0.08896	3.04	2.03	-4.07	0.03975	.	.	.	.	.	T	0.03651	0.0104	N	0.22421	0.69	0.09310	N	1	P	0.34977	0.478	B	0.25987	0.065	T	0.20107	-1.0285	9	0.48119	T	0.1	.	1.3109	0.02097	0.3645:0.2343:0.2778:0.1235	.	1132	Q9NZP6	CO002_HUMAN	N	1132	ENSP00000333735:K1132N	ENSP00000333735:K1132N	K	+	3	2	C15orf2	22475503	0.000000	0.05858	0.000000	0.03702	0.189000	0.23516	-0.823000	0.04443	-2.202000	0.00745	-0.736000	0.03550	AAA	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251253.1		+	ENST00000329468.2	Missense_Mutation	SNP	15 : 24924410 - 24924410 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	861	165
CCDC101	112869	broad.mit.edu	37	16	28602223	28602223	+	Silent	SNP	C	C	T	rs1053570		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28602223C>T	ENST00000317058.3	+	9	919	c.732C>T	c.(730-732)ttC>ttT	p.F244F		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	244	SGF29 C-terminal.				establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						CTACCTGCTTCTACCGCGCCC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	44	46			NA	NA	16		NA											NA				28602223		2197	4300	6497	SO:0001819	synonymous_variant			AK057008	CCDS10635.1	16p11.2	2010-08-03			ENSG00000176476	ENSG00000176476	112869	112869			25156	protein-coding gene	gene with protein product	SAGA-associated factor 29 homolog (yeast)	613374			NA	17334388	Standard	NM_138414	NM_138414	NA	Approved	FLJ32446, SGF29	uc002dqf.3	Q96ES7	OTTHUMG00000131763	ENST00000317058.3:c.732C>T	16.37:g.28602223C>T		NA	Q96MF5	37	CCDS10635.1																																																																																			CCDC101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254691.1		+	ENST00000317058.3	Silent	SNP	16 : 28602223 - 28602223 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	145	24
APOA5	116519	broad.mit.edu	37	11	116662558	116662558	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:116662558C>T	ENST00000227665.4	-	1	53	c.19G>A	c.(19-21)Gtg>Atg	p.V7M	APOA5_ENST00000542499.1_Missense_Mutation_p.V7M			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	7					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CAGGTGAGCACGGCAGCCATG	0.632		NA									OREG0003485|OREG0021366	type=REGULATORY REGION|Gene=APOA5|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	49	51			NA	NA	11		NA											NA				116662558		2201	4296	6497	SO:0001583	missense			AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243	NA	116519		Apolipoproteins	17288	protein-coding gene	gene with protein product		606368			NA	11588264, 11577099	Standard		NM_001166598	NA	Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.19G>A	11.37:g.116662558C>T	ENSP00000227665:p.Val7Met	1475	B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	37	CCDS8376.2	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611190	0.46631	.	.	ENSG00000110243	ENST00000227665;ENST00000542499;ENST00000433069	T;T;T	0.80480	-0.94;-0.94;-1.38	5.41	-1.14	0.09741	.	0.770143	0.11366	N	0.571410	T	0.74207	0.3686	M	0.75264	2.295	0.09310	N	1	B	0.19073	0.033	B	0.11329	0.006	T	0.64145	-0.6476	10	0.62326	D	0.03	-5.4016	2.5289	0.04698	0.2099:0.3124:0.338:0.1397	.	7	Q6Q788	APOA5_HUMAN	M	7	ENSP00000227665:V7M;ENSP00000445002:V7M;ENSP00000399701:V7M	ENSP00000227665:V7M	V	-	1	0	APOA5	116167768	0.000000	0.05858	0.000000	0.03702	0.436000	0.31835	-0.470000	0.06639	-0.355000	0.08199	-0.254000	0.11334	GTG	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000106285.2		-	ENST00000227665.4	Missense_Mutation	SNP	11 : 116662558 - 116662558 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	207	34
SLC12A4	6560	broad.mit.edu	37	16	67984390	67984390	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67984390G>A	ENST00000316341.3	-	12	1601	c.1461C>T	c.(1459-1461)ggC>ggT	p.G487G	SLC12A4_ENST00000422611.2_Silent_p.G489G|SLC12A4_ENST00000541864.2_Silent_p.G456G|SLC12A4_ENST00000338335.3_Silent_p.G487G|SLC12A4_ENST00000572037.1_Silent_p.G439G|SLC12A4_ENST00000576616.1_Silent_p.G487G|SLC12A4_ENST00000537830.2_Silent_p.G481G	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	487					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGACACCATCGCCATACCTGC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	60	61			NA	NA	16		NA											NA				67984390		2198	4300	6498	SO:0001819	synonymous_variant				CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067	6560	6560		Solute carriers	10913	protein-coding gene	gene with protein product		604119			NA	8663127	Standard	NM_005072	NM_005072	NA	Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.1461C>T	16.37:g.67984390G>A		NA	O60632|O75893|Q13953|Q96LD5	37	CCDS10855.1																																																																																			SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268864.4		-	ENST00000316341.3	Silent	SNP	16 : 67984390 - 67984390 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	246	44
CHAD	1101	broad.mit.edu	37	17	48546111	48546111	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48546111C>T	ENST00000508540.1	-	1	216	c.64G>A	c.(64-66)Gcc>Acc	p.A22T	ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000427954.2_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.A22T|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000506085.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	22					regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TGGGGGCAGGCGGCCAGCGCC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	21	21			NA	NA	17		NA											NA				48546111		2203	4299	6502	SO:0001583	missense			U96767	CCDS11568.1	17q21.33	2008-02-05			ENSG00000136457	ENSG00000136457	1101	1101		Proteoglycans / Extracellular Matrix : Small leucine-rich repeats	1909	protein-coding gene	gene with protein product	chondroadherin proteoglycan	602178			NA	9344663	Standard	NM_001267	NM_001267	NA	Approved	SLRR4A	uc010dbr.3	O15335	OTTHUMG00000162129	ENST00000508540.1:c.64G>A	17.37:g.48546111C>T	ENSP00000423812:p.Ala22Thr	NA	A8K812|Q6GTU0|Q96RJ5	37	CCDS11568.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113910	0.56398	.	.	ENSG00000136457	ENST00000508540;ENST00000258969	D;D	0.96745	-4.11;-4.11	4.31	4.31	0.51392	Leucine-rich repeat-containing N-terminal (2);	0.119263	0.56097	D	0.000023	D	0.95408	0.8509	L	0.40543	1.245	0.44643	D	0.997625	D	0.63880	0.993	P	0.53593	0.73	D	0.93851	0.7145	10	0.20519	T	0.43	.	16.9843	0.86336	0.0:1.0:0.0:0.0	.	22	O15335	CHAD_HUMAN	T	22	ENSP00000423812:A22T;ENSP00000258969:A22T	ENSP00000258969:A22T	A	-	1	0	CHAD	45901110	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.388000	0.66249	2.232000	0.73038	0.462000	0.41574	GCC	CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367447.3		-	ENST00000508540.1	Missense_Mutation	SNP	17 : 48546111 - 48546111 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	107	26
MMRN2	79812	broad.mit.edu	37	10	88703541	88703541	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88703541C>T	ENST00000372027.5	-	6	1321	c.1000G>A	c.(1000-1002)Gac>Aac	p.D334N		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	NA						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						AATTTGGTGTCCACATCGGCT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	61	60			NA	NA	10		NA											NA				88703541		2203	4300	6503	SO:0001583	missense			AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269	79812	79812		EMI domain containing	19888	protein-coding gene	gene with protein product		608925	elastin microfibril interfacer 3	EMILIN3	NA	11559704	Standard	NM_024756	NM_024756	NA	Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.1000G>A	10.37:g.88703541C>T	ENSP00000361097:p.Asp334Asn	NA	Q504V7|Q6P2N2	37	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.819059	0.50633	.	.	ENSG00000173269	ENST00000372027	T	0.69806	-0.43	5.06	3.19	0.36642	.	0.137298	0.44097	D	0.000491	T	0.61751	0.2372	M	0.65498	2.005	0.09310	N	1	P;P	0.52316	0.583;0.952	B;B	0.40636	0.144;0.335	T	0.57201	-0.7852	10	0.54805	T	0.06	-29.529	10.4158	0.44320	0.0:0.8491:0.0:0.1509	.	273;334	B4E3H8;Q9H8L6	.;MMRN2_HUMAN	N	334	ENSP00000361097:D334N	ENSP00000361097:D334N	D	-	1	0	MMRN2	88693521	0.855000	0.29742	0.038000	0.18304	0.895000	0.52256	1.714000	0.37961	0.517000	0.28361	0.462000	0.41574	GAC	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049179.2		-	ENST00000372027.5	Missense_Mutation	SNP	10 : 88703541 - 88703541 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	373	68
SYNE1	23345	broad.mit.edu	37	6	152694260	152694260	+	Missense_Mutation	SNP	G	G	A	rs146402274		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152694260G>A	ENST00000367255.5	-	59	10020	c.9419C>T	c.(9418-9420)gCg>gTg	p.A3140V	SYNE1_ENST00000423061.1_Missense_Mutation_p.A3147V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A3179V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A3147V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A3140V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3140					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GATCCCTTTCGCTTTCTCTTT	0.398		NA								HNSCC(10;0.0054)			G	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	4e-04	0.95	EXOME	NA	NA	4e-04	SNP								NA				0								G	VAL/ALA,VAL/ALA	4,4402	6.2+/-15.9	0,4,2199	164	170	168		9440,9419	6	1	6	dbSNP_134	168	0,8600		0,0,4300	yes	missense,missense	SYNE1	NM_033071.3,NM_182961.3	64,64	0,4,6499	AA,AG,GG	NA	0.0,0.0908,0.0308	benign,benign	3147/8750,3140/8798	152694260	4,13002	2203	4300	6503	SO:0001583	missense			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018	23345	23345			17089	protein-coding gene	gene with protein product	myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1	608441	chromosome 6 open reading frame 98	C6orf98	NA	9872452, 10878022	Standard	NM_182961	NM_182961	NA	Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.9419C>T	6.37:g.152694260G>A	ENSP00000356224:p.Ala3140Val	NA	O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	37	CCDS5236.2	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	G|G	11.51|11.51	1.658993|1.658993	0.29515|0.29515	9.08E-4|9.08E-4	0.0|0.0	ENSG00000131018|ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594|ENST00000454018	T;T;T;T;T|.	0.37752|.	1.18;1.18;1.18;1.18;1.18|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.092885|.	0.46758|.	D|.	0.000271|.	T|.	0.56411|.	0.1983|.	L|L	0.33137|0.33137	0.985|0.985	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.29253|.	0.016;0.239;0.016;0.048|.	B;B;B;B|.	0.24269|.	0.006;0.052;0.006;0.013|.	T|.	0.50206|.	-0.8855|.	10|.	0.15066|.	T|.	0.55|.	.|.	20.4008|20.4008	0.98991|0.98991	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3140;257;3140;3147|.	Q8NF91;B7ZBC4;E7EQI5;Q8NF91-4|.	SYNE1_HUMAN;.;.;.|.	V|X	3140;3147;3140;3147;3179|257	ENSP00000356224:A3140V;ENSP00000396024:A3147V;ENSP00000265368:A3140V;ENSP00000390975:A3147V;ENSP00000341887:A3179V|.	ENSP00000265368:A3140V|.	A|R	-|-	2|1	0|2	SYNE1|SYNE1	152735953|152735953	1.000000|1.000000	0.71417|0.71417	0.969000|0.969000	0.41365|0.41365	0.031000|0.031000	0.12232|0.12232	5.061000|5.061000	0.64319|0.64319	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GCG|CGA	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334755.2		-	ENST00000367255.5	Missense_Mutation	SNP	6 : 152694260 - 152694260 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	942	186
SESN3	143686	broad.mit.edu	37	11	94924736	94924736	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94924736A>G	ENST00000278499.2	-	0	480				SESN3_ENST00000536441.1_Silent_p.R58R|SESN3_ENST00000416495.2_Silent_p.R58R|SESN3_ENST00000393234.1_Silent_p.R58R|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000537480.1_5'UTR|RP11-712B9.2_ENST00000534891.1_RNA			P58005	SESN3_HUMAN	sestrin 3	NA					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		GAAAGTTAGTACGTTCATCCA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	122	128			NA	NA	11		NA											NA				94924736		2201	4298	6499	SO:0001623	5_prime_UTR_variant			AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212	143686	143686			23060	protein-coding gene	gene with protein product		607768			NA	12607115	Standard	NM_144665	NM_144665	NA	Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000278499.2:c.-61T>C	11.37:g.94924736A>G		NA	Q96AD1	37																																																																																				SESN3-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000396479.1		-	ENST00000278499.2	5'UTR	SNP	11 : 94924736 - 94924736 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	61
C10orf71	118461	broad.mit.edu	37	10	50531186	50531186	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50531186C>T	ENST00000374144.3	+	3	884	c.596C>T	c.(595-597)cCc>cTc	p.P199L	C10orf71_ENST00000323868.4_Missense_Mutation_p.P199L			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	199										endometrium(1)	1						AGGAGGGTGCCCGCTGAAGTT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	38	38			NA	NA	10		NA											NA				50531186		1985	4156	6141	SO:0001583	missense			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354	118461	118461			26973	protein-coding gene	gene with protein product					NA		Standard	NM_199459	NM_001135196	NA	Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.596C>T	10.37:g.50531186C>T	ENSP00000363259:p.Pro199Leu	NA	A0AVL8	37	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	C	8.888	0.953322	0.18431	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.12672	2.66;3.8	5.4	5.4	0.78164	.	0.000000	0.49916	D	0.000139	T	0.09423	0.0232	L	0.46157	1.445	0.47547	D	0.999457	P	0.40970	0.734	B	0.38500	0.275	T	0.14587	-1.0467	10	0.02654	T	1	.	5.5496	0.17083	0.1932:0.6873:0.0:0.1195	.	199	Q711Q0-3	.	L	199	ENSP00000318713:P199L;ENSP00000363259:P199L	ENSP00000318713:P199L	P	+	2	0	C10orf71	50201192	0.998000	0.40836	0.989000	0.46669	0.997000	0.91878	3.477000	0.53151	2.530000	0.85305	0.561000	0.74099	CCC	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047984.2		+	ENST00000374144.3	Missense_Mutation	SNP	10 : 50531186 - 50531186 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	45
CREB3L2	64764	broad.mit.edu	37	7	137565290	137565290	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137565290C>T	ENST00000330387.6	-	12	1846	c.1495G>A	c.(1495-1497)Gcc>Acc	p.A499T		NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	499					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TCCAGTTTGGCGCTGACCCTG	0.458		NA	T	FUS	fibromyxoid sarcoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		7	7q34	64764	cAMP responsive element binding protein 3-like 2		M	0													124	97	106			NA	NA	7		NA											NA				137565290		2203	4300	6503	SO:0001583	missense			AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158	64764	64764		basic leucine zipper proteins	23720	protein-coding gene	gene with protein product		608834			NA		Standard	NM_194071	NM_194071	NA	Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.1495G>A	7.37:g.137565290C>T	ENSP00000329140:p.Ala499Thr	NA	Q6P454|Q6ZMR6	37	CCDS34760.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264711	0.40095	.	.	ENSG00000182158	ENST00000330387	T	0.57752	0.38	5.3	-7.39	0.01402	.	1.247950	0.05251	N	0.514033	T	0.26412	0.0645	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07195	-1.0785	10	0.12766	T	0.61	-0.4631	9.9392	0.41570	0.1659:0.139:0.0:0.6951	.	499	Q70SY1	CR3L2_HUMAN	T	499	ENSP00000329140:A499T	ENSP00000329140:A499T	A	-	1	0	CREB3L2	137215830	0.672000	0.27530	0.318000	0.25279	0.994000	0.84299	-0.646000	0.05403	-2.087000	0.00862	-0.136000	0.14681	GCC	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341462.1		-	ENST00000330387.6	Missense_Mutation	SNP	7 : 137565290 - 137565290 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	123	21
KRT3	3850	broad.mit.edu	37	12	53189544	53189544	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53189544C>A	ENST00000417996.2	-	1	357	c.283G>T	c.(283-285)Ggt>Tgt	p.G95C	KRT3_ENST00000309505.3_Missense_Mutation_p.G95C	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	95	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						ccaaagccacctccatagcca	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	160	146			NA	NA	12		NA											NA				53189544		2203	4300	6503	SO:0001583	missense				CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442	3850	3850		-, Intermediate filaments type II, keratins (basic)	6440	protein-coding gene	gene with protein product	keratin, type II cytoskeletal 3, cytokeratin 3	148043			NA	7510223, 16831889	Standard	NM_057088	NM_057088	NA	Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.283G>T	12.37:g.53189544C>A	ENSP00000413479:p.Gly95Cys	NA	A6NIS2|Q701L8	37	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	c	9.383	1.073530	0.20147	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.90732	-2.72;-2.72	4.95	0.391	0.16282	.	.	.	.	.	D	0.93664	0.7976	M	0.90483	3.12	0.32257	N	0.570634	D	0.71674	0.998	P	0.54372	0.75	D	0.92072	0.5665	9	0.48119	T	0.1	.	10.6718	0.45762	0.0:0.8556:0.0:0.1444	.	95	P12035	K2C3_HUMAN	C	95	ENSP00000413479:G95C;ENSP00000312206:G95C	ENSP00000312206:G95C	G	-	1	0	KRT3	51475811	0.001000	0.12720	0.900000	0.35374	0.473000	0.32948	0.351000	0.20096	-0.149000	0.11215	-0.438000	0.05819	GGT	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405930.1		-	ENST00000417996.2	Missense_Mutation	SNP	12 : 53189544 - 53189544 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	768	76
ERF	2077	broad.mit.edu	37	19	42753023	42753023	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42753023C>A	ENST00000222329.4	-	4	1398	c.1241G>T	c.(1240-1242)gGg>gTg	p.G414V	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Missense_Mutation_p.G339V	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	414					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GGCTAGCGCCCCTGCCCCCTC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	40	37			NA	NA	19		NA											NA				42753023		2154	4187	6341	SO:0001583	missense			U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722	2077	2077			3444	protein-coding gene	gene with protein product	Ets2 repressor factor	611888			NA	7588608, 9192842	Standard	NM_006494	XM_005258644	NA	Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1241G>T	19.37:g.42753023C>A	ENSP00000222329:p.Gly414Val	NA	B2RAP1|Q59G38|Q9UPI7	37	CCDS12600.1	.	.	.	.	.	.	.	.	.	.	C	2.385	-0.341122	0.05243	.	.	ENSG00000105722	ENST00000222329;ENST00000440177	T;T	0.19938	3.16;2.11	4.05	1.71	0.24356	.	4.932210	0.00424	N	0.000070	T	0.18882	0.0453	L	0.36672	1.1	0.52501	D	0.999958	B	0.06786	0.001	B	0.04013	0.001	T	0.26710	-1.0095	10	0.32370	T	0.25	.	6.6114	0.22753	0.1758:0.7224:0.0:0.1018	.	414	P50548	ERF_HUMAN	V	414;339	ENSP00000222329:G414V;ENSP00000388173:G339V	ENSP00000222329:G414V	G	-	2	0	ERF	47444863	0.009000	0.17119	0.815000	0.32552	0.439000	0.31926	0.812000	0.27211	1.042000	0.40150	0.609000	0.83330	GGG	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463684.1		-	ENST00000222329.4	Missense_Mutation	SNP	19 : 42753023 - 42753023 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	960	197
TLN2	83660	broad.mit.edu	37	15	63084884	63084884	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63084884C>A	ENST00000561311.1	+	45	6011	c.5781C>A	c.(5779-5781)ggC>ggA	p.G1927G	TLN2_ENST00000306829.6_Silent_p.G1927G			Q9Y4G6	TLN2_HUMAN	talin 2	1927					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGGGCCACGGCTGTATCTTCC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	60	63			NA	NA	15		NA											NA				63084884		2203	4300	6503	SO:0001819	synonymous_variant			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914	83660	83660			15447	protein-coding gene	gene with protein product		607349			NA	9205841, 11527381	Standard		NM_015059	NA	Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.5781C>A	15.37:g.63084884C>A		NA	A6NLB8	37	CCDS32261.1																																																																																			TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257878.2		+	ENST00000561311.1	Silent	SNP	15 : 63084884 - 63084884 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	302	63
SIL1	64374	broad.mit.edu	37	5	138356876	138356876	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138356876C>T	ENST00000394817.2	-	7	890	c.751G>A	c.(751-753)Ggc>Agc	p.G251S	SIL1_ENST00000265195.5_Missense_Mutation_p.G251S|CTB-46B19.2_ENST00000512875.2_RNA|CTB-46B19.2_ENST00000510110.1_RNA|SIL1_ENST00000509534.1_Missense_Mutation_p.G258S	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	251	Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).				intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAGGCAGCGCCCAGCACAAAC	0.527		NA							Marinesco-Sjgren syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	91	98			NA	NA	5		NA											NA				138356876		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Marinesco-Sjogren syndrome	AK075177	CCDS4209.1	5q31	2013-08-21	2013-08-21		ENSG00000120725	ENSG00000120725	64374	64374			24624	protein-coding gene	gene with protein product		608005	Marinesco-Sjogren syndrome, SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)	MSS	NA	11101517, 12356756, 16282977	Standard	NM_022464	XM_006714671	NA	Approved	BAP, ULG5	uc003ldp.3	Q9H173	OTTHUMG00000129226	ENST00000394817.2:c.751G>A	5.37:g.138356876C>T	ENSP00000378294:p.Gly251Ser	NA	D3DQC2|Q8N2L3	37	CCDS4209.1	.	.	.	.	.	.	.	.	.	.	C	31	5.089502	0.94149	.	.	ENSG00000120725	ENST00000394817;ENST00000265195;ENST00000537511;ENST00000509534;ENST00000505945	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74489	0.3723	M	0.80183	2.485	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	T	0.72421	-0.4299	10	0.33141	T	0.24	-34.4582	19.0941	0.93242	0.0:1.0:0.0:0.0	.	57;258;251	A0RZB6;D6REA1;Q9H173	.;.;SIL1_HUMAN	S	251;251;166;258;57	ENSP00000378294:G251S;ENSP00000265195:G251S;ENSP00000426858:G258S;ENSP00000425136:G57S	ENSP00000265195:G251S	G	-	1	0	SIL1	138384775	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.265000	0.72534	2.669000	0.90835	0.563000	0.77884	GGC	SIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251319.1		-	ENST00000394817.2	Missense_Mutation	SNP	5 : 138356876 - 138356876 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	54
FRMD1	79981	broad.mit.edu	37	6	168461613	168461613	+	Silent	SNP	G	G	A	rs143590279		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168461613G>A	ENST00000283309.6	-	9	1234	c.1170C>T	c.(1168-1170)gcC>gcT	p.A390A	FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000537786.1_Silent_p.A161A|FRMD1_ENST00000440994.2_Silent_p.A322A	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	390						cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CGTGGCTGTCGGCGGAGTGGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)							NA				0													53	46	49			NA	NA	6		NA											NA				168461613		2203	4300	6503	SO:0001819	synonymous_variant				CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303	79981	79981			21240	protein-coding gene	gene with protein product					NA		Standard	NM_024919	NM_001122841	NA	Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.1170C>T	6.37:g.168461613G>A		NA	B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	37	CCDS5306.1																																																																																			FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362513.2		-	ENST00000283309.6	Silent	SNP	6 : 168461613 - 168461613 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	32
PHRF1	57661	broad.mit.edu	37	11	587346	587346	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:587346C>A	ENST00000264555.5	+	4	430	c.302C>A	c.(301-303)tCt>tAt	p.S101Y	PHRF1_ENST00000413872.2_Missense_Mutation_p.S100Y|PHRF1_ENST00000416188.2_Missense_Mutation_p.S101Y|PHRF1_ENST00000533464.1_Missense_Mutation_p.S97Y	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	101							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TCTTTCAATTCTGATGATGAT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	81	80			NA	NA	11		NA											NA				587346		2003	4173	6176	SO:0001583	missense			BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047	57661	57661		RING-type (C3HC4) zinc fingers, Zinc fingers, PHD-type	24351	protein-coding gene	gene with protein product	CTD binding SR like protein rA9, protein phosphatase 1, regulatory subunit 125	611780		RNF221	NA		Standard	NM_020901	XM_005253027	NA	Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.302C>A	11.37:g.587346C>A	ENSP00000264555:p.Ser101Tyr	NA	A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	37		.	.	.	.	.	.	.	.	.	.	C	17.15	3.316680	0.60524	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	D;D;D;D	0.82711	-1.63;-1.62;-1.64;-1.62	4.81	4.81	0.61882	.	0.000000	0.36482	N	0.002568	D	0.90981	0.7164	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.998	D	0.92354	0.5892	10	0.87932	D	0	-17.4689	16.643	0.85134	0.0:1.0:0.0:0.0	.	97;100;101;101	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	Y	101;100;101;97	ENSP00000264555:S101Y;ENSP00000388589:S100Y;ENSP00000410626:S101Y;ENSP00000431870:S97Y	ENSP00000264555:S101Y	S	+	2	0	PHRF1	577346	1.000000	0.71417	0.632000	0.29296	0.037000	0.13140	7.448000	0.80631	2.208000	0.71279	0.561000	0.74099	TCT	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000382133.1		+	ENST00000264555.5	Missense_Mutation	SNP	11 : 587346 - 587346 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	89
CHD7	55636	broad.mit.edu	37	8	61748784	61748784	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61748784A>G	ENST00000423902.2	+	16	4410	c.3931A>G	c.(3931-3933)Atc>Gtc	p.I1311V	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1311	Helicase C-terminal.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAGGGTGCTTATCTTTTCCCA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	68	68			NA	NA	8		NA											NA				61748784		2023	4194	6217	SO:0001583	missense			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316	55636	55636			20626	protein-coding gene	gene with protein product		608892	CHARGE association	CRG	NA	15300250, 18834967	Standard	XM_098762	NM_017780	NA	Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.3931A>G	8.37:g.61748784A>G	ENSP00000392028:p.Ile1311Val	NA	Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	A	14.99	2.699147	0.48307	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.75154	-0.91	5.8	5.8	0.92144	Helicase, C-terminal (1);	0.066717	0.64402	D	0.000007	T	0.66867	0.2833	L	0.35593	1.075	0.58432	D	0.999999	B	0.32425	0.371	B	0.32393	0.145	T	0.68372	-0.5426	10	0.59425	D	0.04	-16.4397	16.1549	0.81657	1.0:0.0:0.0:0.0	.	1311	Q9P2D1	CHD7_HUMAN	V	1311	ENSP00000392028:I1311V	ENSP00000307304:I1311V	I	+	1	0	CHD7	61911338	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.625000	0.54238	2.209000	0.71365	0.533000	0.62120	ATC	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383468.2		+	ENST00000423902.2	Missense_Mutation	SNP	8 : 61748784 - 61748784 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	168	28
MUS81	80198	broad.mit.edu	37	11	65630597	65630597	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65630597A>C	ENST00000308110.4	+	7	1016	c.667A>C	c.(667-669)Agc>Cgc	p.S223R	MUS81_ENST00000533035.1_Missense_Mutation_p.S148R	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	223	Interaction with BLM.				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		AGAAGGCCTGAGCTTGCTGAA	0.622		NA						Homologous recombination						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	52	52			NA	NA	11		NA											NA				65630597		2201	4296	6497	SO:0001583	missense				CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732	80198	80198			29814	protein-coding gene	gene with protein product	SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)	606591	MUS81 endonuclease homolog (yeast), MUS81 endonuclease homolog (S. cerevisiae)		NA	11741546, 12374758	Standard	NM_025128	NM_025128	NA	Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.667A>C	11.37:g.65630597A>C	ENSP00000307853:p.Ser223Arg	NA	Q9H7D9	37	CCDS8115.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	14.51|14.51	2.558063|2.558063	0.45590|0.45590	.|.	.|.	ENSG00000172732|ENSG00000172732	ENST00000529374;ENST00000530111|ENST00000533035;ENST00000308110;ENST00000437855	.|T;T	.|0.14516	.|2.5;2.72	4.78|4.78	-2.22|-2.22	0.06952|0.06952	.|.	.|0.779640	.|0.13225	.|N	.|0.404068	T|T	0.12092|0.12092	0.0294|0.0294	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	.|B	.|0.20671	.|0.047	.|B	.|0.24006	.|0.05	T|T	0.41233|0.41233	-0.9520|-0.9520	5|10	.|0.13853	.|T	.|0.58	-7.4028|-7.4028	11.6687|11.6687	0.51389|0.51389	0.3839:0.0:0.6161:0.0|0.3839:0.0:0.6161:0.0	.|.	.|223	.|Q96NY9	.|MUS81_HUMAN	A|R	147;118|148;223;223	.|ENSP00000432287:S148R;ENSP00000307853:S223R	.|ENSP00000307853:S223R	E|S	+|+	2|1	0|0	MUS81|MUS81	65387173|65387173	0.051000|0.051000	0.20477|0.20477	0.039000|0.039000	0.18376|0.18376	0.669000|0.669000	0.39330|0.39330	0.094000|0.094000	0.15107|0.15107	-0.275000|-0.275000	0.09219|0.09219	0.454000|0.454000	0.30748|0.30748	GAG|AGC	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390941.3		+	ENST00000308110.4	Missense_Mutation	SNP	11 : 65630597 - 65630597 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	325	28
FANCA	2175	broad.mit.edu	37	16	89807275	89807275	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89807275C>T	ENST00000389301.3	-	38	3796		c.e38-1		FANCA_ENST00000568369.1_Splice_Site|ZNF276_ENST00000289816.5_3'UTR	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	NA					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AAACCAATAGCTGTAAATAAA	0.378		NA	D, Mis, N, F, S			AML, leukemia		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Fanconi anaemia A	16	16q24.3	2175	Fanconi anemia, complementation group A		L	0													77	72	74			NA	NA	16		NA											NA				89807275		2198	4300	6498	SO:0001630	splice_region_variant	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741	2175	2175		Fanconi anemia, complementation groups	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH	NA	7581462, 9382107	Standard		NM_001286167	NA	Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.3766-1G>A	16.37:g.89807275C>T		NA	A5D923|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	37	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489304	0.44249	.	.	ENSG00000187741	ENST00000389301;ENST00000305699	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2616	0.82550	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FANCA	88334776	1.000000	0.71417	0.726000	0.30738	0.508000	0.34012	4.115000	0.57865	2.586000	0.87340	0.561000	0.74099	.	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421927.1	Intron	-	ENST00000389301.3	Splice_Site	SNP	16 : 89807275 - 89807275 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	145	17
ITFG3	83986	broad.mit.edu	37	16	304439	304439	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:304439C>T	ENST00000399932.3	+	3	478	c.27C>T	c.(25-27)gcC>gcT	p.A9A	ITFG3_ENST00000301679.2_Silent_p.A9A|ITFG3_ENST00000301678.3_Silent_p.A9A|ITFG3_ENST00000450082.2_Silent_p.A9A|ITFG3_ENST00000600536.1_Silent_p.A9A|ITFG3_ENST00000442458.2_Silent_p.A9A	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	9						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				ACTTAGAGGCCGAAATCCACC	0.493		NA									OREG0003695	type=REGULATORY REGION|Gene=C16orf9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	161	160			NA	NA	16		NA											NA				304439		1906	4121	6027	SO:0001819	synonymous_variant			AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930	83986	83986			14163	protein-coding gene	gene with protein product			chromosome 16 open reading frame 9	C16orf9	NA		Standard	NM_032039	XM_005255622	NA	Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.27C>T	16.37:g.304439C>T		587	D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	37	CCDS10402.1																																																																																			ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000134227.2		+	ENST00000399932.3	Silent	SNP	16 : 304439 - 304439 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1494	136
TRPC7	57113	broad.mit.edu	37	5	135583384	135583384	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:135583384G>A	ENST00000513104.1	-	7	1901	c.1619C>T	c.(1618-1620)tCg>tTg	p.S540L	TRPC7_ENST00000426057.2_Missense_Mutation_p.S424L|TRPC7_ENST00000355180.3_Missense_Mutation_p.S479L	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	540					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAGCCCTTCCGATATGATCTG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	80	80			NA	NA	5		NA											NA				135583384		1947	4145	6092	SO:0001583	missense			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018	57113	57113		Voltage-gated ion channels / Transient receptor potential cation channels	20754	protein-coding gene	gene with protein product					NA	11805119, 16382100	Standard	NM_020389	NM_020389	NA	Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.1619C>T	5.37:g.135583384G>A	ENSP00000426070:p.Ser540Leu	NA	A1A4Z4	37	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	G	34	5.299253	0.95574	.	.	ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	T;T;T	0.80994	-1.26;-1.44;-1.3	5.65	5.65	0.86999	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.92331	0.7567	M	0.91717	3.235	0.58432	D	0.999997	D;P;D;D	0.89917	1.0;0.752;1.0;1.0	D;B;D;D	0.85130	0.992;0.423;0.997;0.995	D	0.93047	0.6462	10	0.87932	D	0	-8.1392	19.9142	0.97043	0.0:0.0:1.0:0.0	.	424;479;485;540	Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.;.;.;TRPC7_HUMAN	L	479;424;540;540	ENSP00000347312:S479L;ENSP00000441628:S424L;ENSP00000426070:S540L	ENSP00000265193:S540L	S	-	2	0	TRPC7	135611283	1.000000	0.71417	0.927000	0.36925	0.891000	0.51852	9.657000	0.98554	2.941000	0.99782	0.655000	0.94253	TCG	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366975.1		-	ENST00000513104.1	Missense_Mutation	SNP	5 : 135583384 - 135583384 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	425	85
C2CD2	25966	broad.mit.edu	37	21	43329596	43329596	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43329596C>T	ENST00000380486.3	-	8	1231	c.990G>A	c.(988-990)caG>caA	p.Q330Q	C2CD2_ENST00000329623.7_Silent_p.Q175Q	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	330	C2.					cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CCTCTGAAATCTGCAGGTGTA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	78	83			NA	NA	21		NA											NA				43329596		2203	4300	6503	SO:0001819	synonymous_variant			AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617	25966	25966			1266	protein-coding gene	gene with protein product	TMEM24-like		chromosome 21 open reading frame 25	C21orf25	NA	15289880	Standard	NM_015500	NM_015500	NA	Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.990G>A	21.37:g.43329596C>T		NA	Q5R2V7|Q6AHX8|Q9NSE6	37	CCDS42933.1																																																																																			C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195228.2		-	ENST00000380486.3	Silent	SNP	21 : 43329596 - 43329596 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	386	34
PLCL1	5334	broad.mit.edu	37	2	198950910	198950910	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198950910C>T	ENST00000428675.1	+	2	3067	c.2669C>T	c.(2668-2670)gCg>gTg	p.A890V	PLCL1_ENST00000437704.2_Missense_Mutation_p.A792V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	890					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TTTAAAATAGCGGTTCATCCA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	54	56			NA	NA	2		NA											NA				198950910		2203	4300	6503	SO:0001583	missense			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896	5334	5334			9063	protein-coding gene	gene with protein product	phospholipase C related, but catalytically inactive protein, protein phosphatase 1, regulatory subunit 127	600597	phospholipase C, epsilon	PLCE	NA	7633416	Standard	NM_006226	NM_006226	NA	Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2669C>T	2.37:g.198950910C>T	ENSP00000402861:p.Ala890Val	NA	Q3MJ90|Q53SD3|Q7Z3S3	37	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234223	0.79688	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.22539	1.95;2.01	5.41	5.41	0.78517	.	0.089994	0.48767	D	0.000176	T	0.45558	0.1348	M	0.83012	2.62	0.80722	D	1	D;D	0.69078	0.997;0.989	P;P	0.55055	0.767;0.593	T	0.44498	-0.9324	9	.	.	.	.	19.3843	0.94550	0.0:1.0:0.0:0.0	.	890;816	Q15111;B4DYZ4	PLCL1_HUMAN;.	V	890;792	ENSP00000402861:A890V;ENSP00000414138:A792V	.	A	+	2	0	PLCL1	198659155	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.641000	0.83368	2.814000	0.96858	0.591000	0.81541	GCG	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340210.1		+	ENST00000428675.1	Missense_Mutation	SNP	2 : 198950910 - 198950910 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	271	49
SLC4A10	57282	broad.mit.edu	37	2	162813580	162813580	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162813580G>C	ENST00000415876.2	+	19	2714	c.2533G>C	c.(2533-2535)Gtg>Ctg	p.V845L	SLC4A10_ENST00000375514.5_Missense_Mutation_p.V856L|SLC4A10_ENST00000421911.1_Missense_Mutation_p.V875L|SLC4A10_ENST00000272716.5_Missense_Mutation_p.V845L|SLC4A10_ENST00000446997.1_Missense_Mutation_p.V875L	NM_022058.3	NP_071341.2	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	875					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GCCATGGTTTGTGGCTGCCAC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	36	35			NA	NA	2		NA											NA				162813580		2186	4297	6483	SO:0001583	missense				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290	57282	57282		Solute carriers	13811	protein-coding gene	gene with protein product		605556	solute carrier family 4, sodium bicarbonate transporter-like, member 10		NA	10964153, 18319254	Standard	NM_022058	NM_022058	NA	Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000415876.2:c.2533G>C	2.37:g.162813580G>C	ENSP00000395797:p.Val845Leu	NA	B7ZLC5|B9EG69|Q4ZFX6|Q8TCP2|Q9HCQ6	37	CCDS46438.1	.	.	.	.	.	.	.	.	.	.	G	32	5.168728	0.94768	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37	5.39	5.39	0.77823	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92205	0.7528	M	0.91090	3.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.93657	0.6978	10	0.87932	D	0	.	19.1645	0.93548	0.0:0.0:1.0:0.0	.	856;845;875	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	L	856;845;845;844;875;875;874	ENSP00000364664:V856L;ENSP00000395797:V845L;ENSP00000272716:V845L;ENSP00000393066:V875L;ENSP00000404486:V875L	ENSP00000272716:V845L	V	+	1	0	SLC4A10	162521826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.506000	0.84524	0.655000	0.94253	GTG	SLC4A10-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333087.2		+	ENST00000415876.2	Missense_Mutation	SNP	2 : 162813580 - 162813580 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	151	9
KCNJ12	3768	broad.mit.edu	37	17	21318812	21318812	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:21318812G>A	ENST00000583088.1	+	3	1053	c.158G>A	c.(157-159)tGc>tAc	p.C53Y	KCNJ12_ENST00000331718.5_Missense_Mutation_p.C53Y	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12	NA										NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		AATGGCCAGTGCAACATTGAG	0.602		NA								Prostate(3;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	123	143			NA	NA	17		NA											NA				21318812		2203	4300	6503	SO:0001583	missense			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185	3768	3768		Potassium channels, Voltage-gated ion channels / Potassium channels, Inwardly rectifying	6258	protein-coding gene	gene with protein product		602323	potassium inwardly-rectifying channel, subfamily J, inhibitor 1	KCNJN1	NA	7859381, 12417321, 16382105	Standard	NM_021012	NM_021012	NA	Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.158G>A	17.37:g.21318812G>A	ENSP00000463778:p.Cys53Tyr	NA		37	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267354	0.80469	.	.	ENSG00000184185	ENST00000331718	D	0.95482	-3.72	5.33	5.33	0.75918	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.98601	0.9532	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99651	1.0991	10	0.87932	D	0	.	19.026	0.92932	0.0:0.0:1.0:0.0	.	53	Q14500	IRK12_HUMAN	Y	53	ENSP00000328150:C53Y	ENSP00000328150:C53Y	C	+	2	0	KCNJ12	21259405	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.690000	0.98676	2.506000	0.84524	0.591000	0.81541	TGC	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255060.2		+	ENST00000583088.1	Missense_Mutation	SNP	17 : 21318812 - 21318812 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	393	17
STPG2	285555	broad.mit.edu	37	4	99064225	99064225	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:99064225T>C	ENST00000295268.3	-	1	166	c.77A>G	c.(76-78)tAc>tGc	p.Y26C		NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2	NA											NA						AGGTACCTGGTAGGATCCAGG	0.592		NA									OREG0016268	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	44	50			NA	NA	4		NA											NA				99064225		2203	4300	6503	SO:0001583	missense			BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116	285555	285555			28712	protein-coding gene	gene with protein product			chromosome 4 open reading frame 37	C4orf37	NA	23031811	Standard	NM_174952	NM_174952	NA	Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.77A>G	4.37:g.99064225T>C	ENSP00000295268:p.Tyr26Cys	1340		37	CCDS3645.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.084050	0.76642	.	.	ENSG00000163116	ENST00000295268	T	0.60299	0.2	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000001	T	0.75140	0.3809	M	0.78049	2.395	0.42150	D	0.991554	D	0.89917	1.0	D	0.91635	0.999	T	0.78957	-0.1999	10	0.87932	D	0	-7.0612	12.0642	0.53578	0.0:0.0:0.0:1.0	.	26	Q8N412	CD037_HUMAN	C	26	ENSP00000295268:Y26C	ENSP00000295268:Y26C	Y	-	2	0	C4orf37	99283248	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.617000	0.54181	2.105000	0.64084	0.528000	0.53228	TAC	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253642.1		-	ENST00000295268.3	Missense_Mutation	SNP	4 : 99064225 - 99064225 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	138	27
ALPK1	80216	broad.mit.edu	37	4	113352444	113352444	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113352444A>C	ENST00000458497.1	+	11	2020	c.1741A>C	c.(1741-1743)Agt>Cgt	p.S581R	ALPK1_ENST00000177648.9_Missense_Mutation_p.S581R|ALPK1_ENST00000504176.2_Missense_Mutation_p.S503R	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	581							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CCAGACTTCCAGTGCTTGGAG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	89	88			NA	NA	4		NA											NA				113352444		2203	4300	6503	SO:0001583	missense			AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331	80216	80216			20917	protein-coding gene	gene with protein product	lymphocyte alpha-kinase	607347			NA	10021370, 10819331	Standard	NM_025144	NM_025144	NA	Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.1741A>C	4.37:g.113352444A>C	ENSP00000398048:p.Ser581Arg	NA	Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	37	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.548533	0.65311	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.02916	4.19;4.19;4.11	5.34	-1.57	0.08506	.	0.809781	0.11477	N	0.560132	T	0.07007	0.0178	M	0.71581	2.175	0.09310	N	1	D;D;P	0.57571	0.98;0.966;0.933	P;P;P	0.54312	0.748;0.564;0.564	T	0.16660	-1.0395	10	0.87932	D	0	-1.4499	4.3225	0.11023	0.5207:0.0:0.2595:0.2198	.	503;503;581	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	R	581;581;503	ENSP00000398048:S581R;ENSP00000177648:S581R;ENSP00000426044:S503R	ENSP00000177648:S581R	S	+	1	0	ALPK1	113571893	0.034000	0.19679	0.002000	0.10522	0.863000	0.49368	0.264000	0.18497	-0.514000	0.06488	0.533000	0.62120	AGT	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256421.2		+	ENST00000458497.1	Missense_Mutation	SNP	4 : 113352444 - 113352444 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	411	79
RPGRIP1	57096	broad.mit.edu	37	14	21788264	21788264	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21788264T>G	ENST00000400017.2	+	11	1395	c.1395T>G	c.(1393-1395)atT>atG	p.I465M	RPGRIP1_ENST00000556336.1_Missense_Mutation_p.I438M|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.I438M|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.I465M|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.I107M	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	465					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CAGCCACAATTTCCCAACCTC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	49	49			NA	NA	14		NA											NA				21788264		1924	4135	6059	SO:0001583	missense			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200	57096	57096			13436	protein-coding gene	gene with protein product		605446		RPGRIP	NA	10958647, 10958648	Standard	NM_020366	NM_020366	NA	Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.1395T>G	14.37:g.21788264T>G	ENSP00000382895:p.Ile465Met	NA	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	37	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	T	9.762	1.170421	0.21621	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660;ENST00000382933;ENST00000557351	T;T;T;T;T	0.76060	-0.16;-0.94;-0.99;-0.99;-0.48	4.68	-2.0	0.07433	.	1.272670	0.04951	N	0.460368	T	0.64864	0.2637	L	0.54323	1.7	0.09310	N	0.999995	B;P;B	0.38250	0.015;0.624;0.306	B;B;B	0.38954	0.023;0.286;0.11	T	0.51710	-0.8671	10	0.35671	T	0.21	2.5688	0.4158	0.00448	0.1926:0.1991:0.2835:0.3248	.	107;81;465	Q96KN7-4;Q96KN7-5;Q96KN7	.;.;RPGR1_HUMAN	M	438;438;465;465;107;132	ENSP00000450445:I438M;ENSP00000451219:I438M;ENSP00000382895:I465M;ENSP00000206660:I465M;ENSP00000372391:I107M	ENSP00000206660:I465M	I	+	3	3	RPGRIP1	20858104	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.230000	0.09083	-0.325000	0.08577	-0.256000	0.11100	ATT	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410258.1		+	ENST00000400017.2	Missense_Mutation	SNP	14 : 21788264 - 21788264 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	190	42
JAG2	3714	broad.mit.edu	37	14	105614748	105614748	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105614748G>A	ENST00000331782.3	-	16	2452	c.2049C>T	c.(2047-2049)tgC>tgT	p.C683C	JAG2_ENST00000347004.2_Silent_p.C645C	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	683	EGF-like 12; calcium-binding (Potential).				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CGCGGCTGTGGCAGGGATCGG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	22	22			NA	NA	14		NA											NA				105614748		2186	4289	6475	SO:0001819	synonymous_variant			AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916	3714	3714			6189	protein-coding gene	gene with protein product		602570			NA	9315665, 10662552	Standard		NM_002226	NA	Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.2049C>T	14.37:g.105614748G>A		NA	Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	37	CCDS9998.1																																																																																			JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276506.2		-	ENST00000331782.3	Silent	SNP	14 : 105614748 - 105614748 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	31
SEMA4G	57715	broad.mit.edu	37	10	102743779	102743779	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102743779A>G	ENST00000210633.3	+	14	2501	c.2423A>G	c.(2422-2424)aAc>aGc	p.N808S	MRPL43_ENST00000370242.4_Missense_Mutation_p.V173A|MRPL43_ENST00000342071.1_Missense_Mutation_p.V173A|SEMA4G_ENST00000370250.4_Missense_Mutation_p.N803S|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000299179.5_Intron|SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000370241.3_Intron|RP11-108L7.4_ENST00000447344.1_RNA			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	803					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		AGGCAGAGCAACAATGGAGTA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	76	76			NA	NA	10		NA											NA				102743779		2203	4300	6503	SO:0001583	missense			AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539	57715	57715		Semaphorins, Immunoglobulin superfamily / Immunoglobulin-like domain containing	10735	protein-coding gene	gene with protein product					NA		Standard		NM_017893	NA	Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000210633.3:c.2423A>G	10.37:g.102743779A>G	ENSP00000210633:p.Asn808Ser	NA	A6NJY8|Q58EY1|Q9HCF3	37	CCDS7501.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	14.08|14.08	2.427250|2.427250	0.43122|0.43122	.|.	.|.	ENSG00000095539|ENSG00000055950	ENST00000370250;ENST00000210633|ENST00000370242;ENST00000342071	T;T|.	0.18016|.	2.24;2.32|.	5.34|5.34	4.21|4.21	0.49690|0.49690	.|.	1.345510|.	0.04794|.	U|.	0.432238|.	T|T	0.28863|0.28863	0.0716|0.0716	N|N	0.08118|0.08118	0|0	0.33117|0.33117	D|D	0.54126|0.54126	B|B;B	0.06786|0.17465	0.001|0.022;0.007	B|B;B	0.11329|0.17433	0.006|0.018;0.004	T|T	0.31308|0.31308	-0.9948|-0.9948	10|8	0.37606|0.87932	T|D	0.19|0	-23.4012|-23.4012	10.1788|10.1788	0.42955|0.42955	0.9216:0.0:0.0784:0.0|0.9216:0.0:0.0784:0.0	.|.	808|173;173	Q9NTN9-2|B1AL06;C9J5Q3	.|.;.	S|A	803;808|173	ENSP00000359270:N803S;ENSP00000210633:N808S|.	ENSP00000210633:N808S|ENSP00000339844:V173A	N|V	+|-	2|2	0|0	SEMA4G|MRPL43	102733769|102733769	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.944000|0.944000	0.59088|0.59088	5.817000|5.817000	0.69229|0.69229	0.886000|0.886000	0.36113|0.36113	0.449000|0.449000	0.29647|0.29647	AAC|GTT	SEMA4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049919.2		+	ENST00000210633.3	Missense_Mutation	SNP	10 : 102743779 - 102743779 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	693	122
AKAP12	9590	broad.mit.edu	37	6	151672727	151672727	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151672727G>A	ENST00000253332.1	+	3	3390	c.3201G>A	c.(3199-3201)caG>caA	p.Q1067Q	AKAP12_ENST00000354675.6_Silent_p.Q969Q|AKAP12_ENST00000402676.2_Silent_p.Q1067Q|AKAP12_ENST00000359755.5_Silent_p.Q962Q			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1067					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		ATGTGCTTCAGCCTGTGCAGA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(141;1616 1805 10049 24534 51979)							NA				0													48	52	50			NA	NA	6		NA											NA				151672727		2203	4300	6503	SO:0001819	synonymous_variant			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016	9590	9590		A-kinase anchor proteins	370	protein-coding gene	gene with protein product	gravin, Src-Suppressed C Kinase Substrate	604698	A kinase (PRKA) anchor protein (gravin) 12		NA	9000000	Standard		NM_144497	NA	Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.3201G>A	6.37:g.151672727G>A		NA	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	37	CCDS5229.1																																																																																			AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042712.1		+	ENST00000253332.1	Silent	SNP	6 : 151672727 - 151672727 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	322	65
SORL1	6653	broad.mit.edu	37	11	121459973	121459973	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121459973G>T	ENST00000534286.1	+	6	693	c.682G>T	c.(682-684)Gat>Tat	p.D228Y	SORL1_ENST00000532694.1_Missense_Mutation_p.D164Y|SORL1_ENST00000525532.1_Missense_Mutation_p.D262Y|SORL1_ENST00000260197.7_Missense_Mutation_p.D1318Y			Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1318					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGTAGCCCAAGATCCTGAGTT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													457	381	407			NA	NA	11		NA											NA				121459973		2203	4299	6502	SO:0001583	missense			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642	6653	6653		Fibronectin type III domain containing	11185	protein-coding gene	gene with protein product	LDLR relative with 11 ligand-binding repeats	602005	chromosome 11 open reading frame 32, sortilin-related receptor, L(DLR class) A repeats-containing	C11orf32	NA	9157966, 8940146	Standard	NM_003105	NM_003105	NA	Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000534286.1:c.682G>T	11.37:g.121459973G>T	ENSP00000436447:p.Asp228Tyr	NA	B2RNX7|Q92856	37		.	.	.	.	.	.	.	.	.	.	G	12.77	2.038523	0.35989	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286	D;D;D;D	0.91631	-2.88;-2.63;-2.27;-2.29	5.62	5.62	0.85841	.	0.395539	0.28448	N	0.015315	D	0.91147	0.7212	N	0.20574	0.59	0.80722	D	1	D	0.62365	0.991	P	0.53593	0.73	D	0.92346	0.5885	10	0.66056	D	0.02	.	19.6767	0.95936	0.0:0.0:1.0:0.0	.	1318	Q92673	SORL_HUMAN	Y	1318;262;164;228	ENSP00000260197:D1318Y;ENSP00000434634:D262Y;ENSP00000432131:D164Y;ENSP00000436447:D228Y	ENSP00000260197:D1318Y	D	+	1	0	SORL1	120965183	1.000000	0.71417	0.984000	0.44739	0.637000	0.38172	4.922000	0.63404	2.634000	0.89283	0.655000	0.94253	GAT	SORL1-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000387632.1		+	ENST00000534286.1	Missense_Mutation	SNP	11 : 121459973 - 121459973 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1325	107
KATNB1	10300	broad.mit.edu	37	16	57789369	57789369	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57789369A>G	ENST00000379661.3	+	16	1921	c.1529A>G	c.(1528-1530)gAc>gGc	p.D510G		NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1	510	Interaction with KATNA1 and NDEL1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				AAGAACCTGGACACTGTGCGG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	96	100			NA	NA	16		NA											NA				57789369		2198	4300	6498	SO:0001583	missense			AF052432	CCDS10788.1	16q12.2	2013-01-09	2003-03-13		ENSG00000140854	ENSG00000140854	10300	10300		WD repeat domain containing	6217	protein-coding gene	gene with protein product		602703	katanin p80 (WD40-containing) subunit B 1		NA	9568719	Standard		XM_006721121	NA	Approved		uc002eml.1	Q9BVA0	OTTHUMG00000133467	ENST00000379661.3:c.1529A>G	16.37:g.57789369A>G	ENSP00000368982:p.Asp510Gly	NA	A6NCG6|O60620	37	CCDS10788.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.359970	0.82353	.	.	ENSG00000140854	ENST00000379661	T	0.54479	0.57	5.06	5.06	0.68205	.	0.093041	0.64402	D	0.000001	T	0.63165	0.2488	M	0.64997	1.995	0.58432	D	0.999999	P	0.52170	0.951	P	0.54431	0.752	T	0.67341	-0.5695	10	0.66056	D	0.02	-2.0978	13.9947	0.64390	1.0:0.0:0.0:0.0	.	510	Q9BVA0	KTNB1_HUMAN	G	510	ENSP00000368982:D510G	ENSP00000368982:D510G	D	+	2	0	KATNB1	56346870	1.000000	0.71417	0.999000	0.59377	0.711000	0.40976	8.872000	0.92352	1.921000	0.55644	0.459000	0.35465	GAC	KATNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257343.3		+	ENST00000379661.3	Missense_Mutation	SNP	16 : 57789369 - 57789369 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	597	114
KCNB2	9312	broad.mit.edu	37	8	73480440	73480440	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:73480440G>A	ENST00000523207.1	+	2	1059	c.471G>A	c.(469-471)gaG>gaA	p.E157E		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	157					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GAGAGGCAGAGACTATGCGAG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	143	140			NA	NA	8		NA											NA				73480440		2203	4300	6503	SO:0001819	synonymous_variant			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674	9312	9312		Potassium channels, Voltage-gated ion channels / Potassium channels	6232	protein-coding gene	gene with protein product		607738			NA	9612272, 16382104	Standard	NM_004770	NM_004770	NA	Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.471G>A	8.37:g.73480440G>A		NA	Q7Z7D0|Q9BXD3	37	CCDS6209.1																																																																																			KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378998.1		+	ENST00000523207.1	Silent	SNP	8 : 73480440 - 73480440 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	878	140
KLHL6	89857	broad.mit.edu	37	3	183210391	183210391	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183210391C>A	ENST00000341319.3	-	6	1490	c.1455G>T	c.(1453-1455)aaG>aaT	p.K485N		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	485										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			AACACTGAGTCTTGTCTGTGG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													217	171	187			NA	NA	3		NA											NA				183210391		2203	4300	6503	SO:0001583	missense			AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578	89857	89857		Kelch-like, BTB/POZ domain containing	18653	protein-coding gene	gene with protein product	kelch-like protein KLHL6	614214	kelch-like 6 (Drosophila)		NA	11214971, 12617994	Standard	NM_130446	NM_130446	NA	Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.1455G>T	3.37:g.183210391C>A	ENSP00000341342:p.Lys485Asn	NA	B2RB31|D3DNS8|Q8N5I1|Q8N892	37	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	C	14.35	2.510440	0.44660	.	.	ENSG00000172578	ENST00000341319	T	0.79554	-1.28	4.88	2.02	0.26589	Kelch-type beta propeller (1);	0.248378	0.46145	D	0.000308	T	0.70552	0.3237	L	0.28344	0.845	0.40751	D	0.982917	P	0.40909	0.732	P	0.46585	0.521	T	0.67094	-0.5757	10	0.56958	D	0.05	.	4.2404	0.10645	0.1559:0.5404:0.0:0.3037	.	485	Q8WZ60	KLHL6_HUMAN	N	485	ENSP00000341342:K485N	ENSP00000341342:K485N	K	-	3	2	KLHL6	184693085	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.874000	0.28065	0.560000	0.29169	0.591000	0.81541	AAG	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000309024.1		-	ENST00000341319.3	Missense_Mutation	SNP	3 : 183210391 - 183210391 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	370	57
TGM7	116179	broad.mit.edu	37	15	43571363	43571363	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43571363C>A	ENST00000452443.2	-	11	1795	c.1791G>T	c.(1789-1791)atG>atT	p.M597I		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	597					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TTAGGACCAGCATGGACCTCC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	83	88			NA	NA	15		NA											NA				43571363		2202	4299	6501	SO:0001583	missense			AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495	116179	116179		Transglutaminases	30790	protein-coding gene	gene with protein product	transglutaminase Z	606776			NA	11390390	Standard	NM_052955	NM_052955	NA	Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.1791G>T	15.37:g.43571363C>A	ENSP00000389466:p.Met597Ile	NA		37	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	C	4.737	0.137116	0.09032	.	.	ENSG00000159495	ENST00000452443	T	0.27557	1.66	5.41	2.18	0.27775	Transglutaminase, C-terminal (1);Immunoglobulin-like fold (1);	0.464340	0.24645	N	0.036766	T	0.10423	0.0255	N	0.04508	-0.205	0.24677	N	0.99338	B	0.02656	0.0	B	0.04013	0.001	T	0.26643	-1.0097	10	0.14252	T	0.57	-12.4081	3.1494	0.06483	0.1786:0.5559:0.1608:0.1046	.	597	Q96PF1	TGM7_HUMAN	I	597	ENSP00000389466:M597I	ENSP00000389466:M597I	M	-	3	0	TGM7	41358655	0.984000	0.35163	1.000000	0.80357	0.995000	0.86356	-0.187000	0.09656	0.140000	0.18849	0.650000	0.86243	ATG	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432489.1		-	ENST00000452443.2	Missense_Mutation	SNP	15 : 43571363 - 43571363 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	210	34
ETAA1	54465	broad.mit.edu	37	2	67630386	67630386	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:67630386T>G	ENST00000272342.5	+	5	702	c.572T>G	c.(571-573)cTt>cGt	p.L191R	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	191						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GAAGAAGAACTTATGAAACTG	0.264		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	30	28			NA	NA	2		NA											NA				67630386		2140	4258	6398	SO:0001583	missense			AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971	54465	54465			24648	protein-coding gene	gene with protein product		613196	Ewing's tumor-associated antigen 1		NA	16003559	Standard	NM_019002	XM_005264374	NA	Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.572T>G	2.37:g.67630386T>G	ENSP00000272342:p.Leu191Arg	NA	Q05BT7|Q53SC4	37	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	T	18.89	3.719812	0.68844	.	.	ENSG00000143971	ENST00000272342	T	0.35973	1.28	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.61899	0.2384	M	0.73962	2.25	0.53688	D	0.999977	D	0.89917	1.0	D	0.91635	0.999	T	0.65154	-0.6237	10	0.87932	D	0	-27.5494	15.9872	0.80168	0.0:0.0:0.0:1.0	.	191	Q9NY74	ETAA1_HUMAN	R	191	ENSP00000272342:L191R	ENSP00000272342:L191R	L	+	2	0	ETAA1	67483890	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.783000	0.68982	2.367000	0.80283	0.528000	0.53228	CTT	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251735.1		+	ENST00000272342.5	Missense_Mutation	SNP	2 : 67630386 - 67630386 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	244	39
CNGB1	1258	broad.mit.edu	37	16	57918346	57918346	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57918346C>A	ENST00000564448.1	-	33	3520	c.3460G>T	c.(3460-3462)Gac>Tac	p.D1154Y	CNGB1_ENST00000251102.8_Missense_Mutation_p.D1160Y			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1160					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CCCTTGACGTCTTGCGAGCTC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(156;1293 1853 16336 28962 38659)							NA				0													25	26	26			NA	NA	16		NA											NA				57918346		2000	4180	6180	SO:0001583	missense			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729	1258	1258		Voltage-gated ion channels / Cyclic nucleotide-regulated channels	2151	protein-coding gene	gene with protein product	glutamic acid-rich protein	600724		CNCG2, CNCG3L	NA	8766832, 7590744, 16382102	Standard	NM_001297	NM_001297	NA	Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000564448.1:c.3460G>T	16.37:g.57918346C>A	ENSP00000454633:p.Asp1154Tyr	NA	O43636|Q13059|Q14029|Q9UMG2	37		.	.	.	.	.	.	.	.	.	.	C	10.27	1.302802	0.23736	.	.	ENSG00000070729	ENST00000251102	D	0.96685	-4.09	3.93	2.98	0.34508	.	0.806464	0.11325	N	0.575614	D	0.95414	0.8511	L	0.44542	1.39	0.20703	N	0.999867	D;P	0.54207	0.965;0.94	P;P	0.54312	0.748;0.564	D	0.88986	0.3411	10	0.72032	D	0.01	.	7.4308	0.27126	0.0:0.8823:0.0:0.1177	.	532;1160	Q14028-2;Q14028	.;CNGB1_HUMAN	Y	1160	ENSP00000251102:D1160Y	ENSP00000251102:D1160Y	D	-	1	0	CNGB1	56475847	0.004000	0.15560	0.007000	0.13788	0.134000	0.20937	1.662000	0.37418	1.233000	0.43693	0.655000	0.94253	GAC	CNGB1-003	NOVEL	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000432160.1		-	ENST00000564448.1	Missense_Mutation	SNP	16 : 57918346 - 57918346 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	63
RFTN2	130132	broad.mit.edu	37	2	198460765	198460765	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198460765C>T	ENST00000295049.4	-	8	1719	c.1183G>A	c.(1183-1185)Gta>Ata	p.V395I		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	NA						plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						TGAAGGAATACGATCTGCTTT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	89	92			NA	NA	2		NA											NA				198460765		2203	4300	6503	SO:0001583	missense			AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944	130132	130132			26402	protein-coding gene	gene with protein product			chromosome 2 open reading frame 11	C2orf11	NA		Standard	NM_144629	NM_144629	NA	Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.1183G>A	2.37:g.198460765C>T	ENSP00000295049:p.Val395Ile	NA	Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	37	CCDS2323.1	.	.	.	.	.	.	.	.	.	.	C	6.009	0.369996	0.11352	.	.	ENSG00000162944	ENST00000295049;ENST00000454447	T;T	0.45668	0.89;0.89	5.34	2.6	0.31112	.	0.348813	0.29544	N	0.011841	T	0.39358	0.1075	M	0.73962	2.25	0.18873	N	0.999984	B	0.29378	0.243	B	0.20184	0.028	T	0.37753	-0.9692	10	0.66056	D	0.02	-12.8816	9.085	0.36577	0.0:0.7705:0.0:0.2295	.	395	Q52LD8	RFTN2_HUMAN	I	395;77	ENSP00000295049:V395I;ENSP00000387459:V77I	ENSP00000295049:V395I	V	-	1	0	RFTN2	198169010	0.818000	0.29161	0.008000	0.14137	0.004000	0.04260	1.140000	0.31516	0.498000	0.27948	-0.133000	0.14855	GTA	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256106.2		-	ENST00000295049.4	Missense_Mutation	SNP	2 : 198460765 - 198460765 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	334	20
KIAA1244	57221	broad.mit.edu	37	6	138656314	138656314	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138656314G>A	ENST00000251691.4	+	33	6497	c.6331G>A	c.(6331-6333)Gca>Aca	p.A2111T		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	2111					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGACGCAGAAGCACAGATCCA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	13	13			NA	NA	6		NA											NA				138656314		2201	4295	6496	SO:0001583	missense			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379	57221	57221		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	21213	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 33		chromosome 6 open reading frame 92	C6orf92	NA		Standard	NM_020340	NM_020340	NA	Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.6331G>A	6.37:g.138656314G>A	ENSP00000251691:p.Ala2111Thr	NA	Q76MU8|Q8N4Y4|Q96CH9|Q96P46|Q9ULH6	37	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377621	0.82682	.	.	ENSG00000112379	ENST00000251691;ENST00000367706	T	0.21932	1.98	5.76	4.89	0.63831	.	0.280376	0.40469	N	0.001093	T	0.09069	0.0224	L	0.32530	0.975	0.50039	D	0.99984	B	0.18461	0.028	B	0.12837	0.008	T	0.04128	-1.0975	10	0.56958	D	0.05	-16.5692	14.6602	0.68865	0.0698:0.0:0.9302:0.0	.	2111	Q5TH69	BIG3_HUMAN	T	2111;152	ENSP00000251691:A2111T	ENSP00000251691:A2111T	A	+	1	0	KIAA1244	138698007	1.000000	0.71417	0.018000	0.16275	0.978000	0.69477	9.181000	0.94874	1.439000	0.47511	0.511000	0.50034	GCA	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042425.4		+	ENST00000251691.4	Missense_Mutation	SNP	6 : 138656314 - 138656314 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	53	8
TRPV1	7442	broad.mit.edu	37	17	3486644	3486644	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3486644G>T	ENST00000310522.5	-	7	1283	c.1284C>A	c.(1282-1284)ttC>ttA	p.F428L	TRPV1_ENST00000399759.3_Missense_Mutation_p.F488L|TRPV1_ENST00000174621.6_Missense_Mutation_p.F486L|TRPV1_ENST00000576351.1_Missense_Mutation_p.F478L|TRPV1_ENST00000425167.2_Missense_Mutation_p.F499L|SHPK_ENST00000572705.1_Missense_Mutation_p.F488L|TRPV1_ENST00000399756.4_Missense_Mutation_p.F488L|TRPV1_ENST00000571088.1_Missense_Mutation_p.F488L			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	488					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CTCGGAAAAAGAAGTAGACTC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(38;962 1762 15789)							NA				0													61	58	59			NA	NA	17		NA											NA				3486644		1951	4142	6093	SO:0001583	missense			AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304	7442	7442		Voltage-gated ion channels / Transient receptor potential cation channels, Ankyrin repeat domain containing	12716	protein-coding gene	gene with protein product		602076	vanilloid receptor subtype 1	VR1	NA	9349813, 11549313, 16382100	Standard	NM_018727	NM_018727	NA	Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000310522.5:c.1284C>A	17.37:g.3486644G>T	ENSP00000311692:p.Phe428Leu	NA	A2RUA9|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	37	CCDS45576.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.411757	0.25465	.	.	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000174621;ENST00000425167;ENST00000310522	D;D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35;-3.35	5.17	-0.805	0.10879	.	0.046853	0.85682	D	0.000000	D	0.87529	0.6200	L	0.43923	1.385	0.54753	D	0.999989	B;B;B;B	0.19200	0.002;0.034;0.017;0.018	B;B;B;B	0.18561	0.02;0.022;0.019;0.015	T	0.75628	-0.3252	10	0.21540	T	0.41	-13.2472	10.7786	0.46365	0.4285:0.0:0.5715:0.0	.	488;486;428;499	Q8NER1;E7EQ80;E7ESJ2;E7EQ78	TRPV1_HUMAN;.;.;.	L	488;488;486;499;428	ENSP00000382661:F488L;ENSP00000382659:F488L;ENSP00000174621:F486L;ENSP00000409627:F499L;ENSP00000311692:F428L	ENSP00000174621:F486L	F	-	3	2	TRPV1	3433393	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	1.302000	0.33459	-0.007000	0.14345	-0.302000	0.09304	TTC	TRPV1-006	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438259.1		-	ENST00000310522.5	Missense_Mutation	SNP	17 : 3486644 - 3486644 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	83	19
SCIN	85477	broad.mit.edu	37	7	12691470	12691470	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:12691470T>G	ENST00000297029.5	+	15	2065	c.1964T>G	c.(1963-1965)tTt>tGt	p.F655C	SCIN_ENST00000519209.1_Missense_Mutation_p.F408C|SCIN_ENST00000445618.2_Missense_Mutation_p.F408C	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	655	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TTTCAGATATTTATTTGGATT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	152	156			NA	NA	7		NA											NA				12691470		1844	4091	5935	SO:0001583	missense			AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747	85477	85477			21695	protein-coding gene	gene with protein product		613416			NA		Standard	NM_033128	NM_033128	NA	Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.1964T>G	7.37:g.12691470T>G	ENSP00000297029:p.Phe655Cys	NA	A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	37	CCDS47545.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.345147	0.82022	.	.	ENSG00000006747	ENST00000297029;ENST00000519209;ENST00000445618	T;T;T	0.30182	1.54;1.54;1.54	5.74	5.74	0.90152	Gelsolin domain (1);	0.099917	0.64402	D	0.000001	T	0.69940	0.3167	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81364	-0.0966	10	0.87932	D	0	-18.8659	16.0395	0.80654	0.0:0.0:0.0:1.0	.	655	Q9Y6U3	ADSV_HUMAN	C	655;408;408	ENSP00000297029:F655C;ENSP00000430997:F408C;ENSP00000390189:F408C	ENSP00000297029:F655C	F	+	2	0	SCIN	12657995	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.188000	0.77739	2.188000	0.69820	0.533000	0.62120	TTT	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326041.1		+	ENST00000297029.5	Missense_Mutation	SNP	7 : 12691470 - 12691470 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	67	12
G2E3	55632	broad.mit.edu	37	14	31077197	31077197	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31077197C>T	ENST00000206595.6	+	12	1576	c.1422C>T	c.(1420-1422)tgC>tgT	p.C474C	G2E3_ENST00000438909.2_Silent_p.C428C|G2E3_ENST00000553504.1_Silent_p.C504C	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	474	HECT.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TGTTTAACTGCCTTGTTTATG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	123	127			NA	NA	14		NA											NA				31077197		2203	4300	6503	SO:0001819	synonymous_variant			AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140	55632	55632		Zinc fingers, PHD-type	20338	protein-coding gene	gene with protein product	PHD finger protein 7B	611299	KIAA1333	KIAA1333	NA	18511420, 17239372	Standard	NM_017769	NM_017769	NA	Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.1422C>T	14.37:g.31077197C>T		NA	Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	37	CCDS9638.1																																																																																			G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276613.2		+	ENST00000206595.6	Silent	SNP	14 : 31077197 - 31077197 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	571	88
DPYD	1806	broad.mit.edu	37	1	97771751	97771751	+	Missense_Mutation	SNP	C	C	T	rs145548112		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:97771751C>T	ENST00000370192.3	-	17	2261	c.2161G>A	c.(2161-2163)Gca>Aca	p.A721T	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	721					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GCAGCTCTTGCGATGCTCACA	0.458		NA											C	1	5e-04	NA	0.0028	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	4e-04	0.8999	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0								C	THR/ALA	0,4406		0,0,2203	210	211	211		2161	6.1	1	1	dbSNP_134	211	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DPYD	NM_000110.3	58	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	721/1026	97771751	1,13005	2203	4300	6503	SO:0001583	missense			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1806	1806	1.3.1.2		3012	protein-coding gene	gene with protein product		612779			NA	7713523	Standard	NM_000110	NM_000110	NA	Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2161G>A	1.37:g.97771751C>T	ENSP00000359211:p.Ala721Thr	NA	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|Q16694|Q16761|Q96TH1	37	CCDS30777.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	25.3	4.622629	0.87460	0.0	1.16E-4	ENSG00000188641	ENST00000370192	T	0.81078	-1.45	6.08	6.08	0.98989	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.94092	0.8106	H	0.97962	4.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95223	0.8335	10	0.87932	D	0	-19.2961	20.6721	0.99693	0.0:1.0:0.0:0.0	.	721	Q12882	DPYD_HUMAN	T	721	ENSP00000359211:A721T	ENSP00000359211:A721T	A	-	1	0	DPYD	97544339	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.458000	0.80787	2.894000	0.99253	0.591000	0.81541	GCA	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095698.3		-	ENST00000370192.3	Missense_Mutation	SNP	1 : 97771751 - 97771751 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1124	227
ZNF474	133923	broad.mit.edu	37	5	121488445	121488445	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121488445C>T	ENST00000296600.4	+	2	1143	c.760C>T	c.(760-762)Ctc>Ttc	p.L254F	CTC-441N14.2_ENST00000504829.1_RNA|ZNF474_ENST00000514925.1_Intron	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	254						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		AAATGACCGGCTCCCTGTGGA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	65	64			NA	NA	5		NA											NA				121488445		2203	4300	6503	SO:0001583	missense			AK057483	CCDS4130.1	5q23.2	2008-02-05			ENSG00000164185	ENSG00000164185	133923	133923		Zinc fingers, C2H2-type	23245	protein-coding gene	gene with protein product					NA		Standard	NM_207317	NM_207317	NA	Approved	4933409D10Rik, FLJ32921	uc003ksv.3	Q6S9Z5	OTTHUMG00000128911	ENST00000296600.4:c.760C>T	5.37:g.121488445C>T	ENSP00000296600:p.Leu254Phe	NA	A8K4M0|Q96M07	37	CCDS4130.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.002121	0.35320	.	.	ENSG00000164185	ENST00000296600	T	0.54866	0.55	5.43	5.43	0.79202	.	0.000000	0.38959	U	0.001513	T	0.67683	0.2919	M	0.81497	2.545	0.34481	D	0.703864	D	0.89917	1.0	D	0.75484	0.986	T	0.71820	-0.4477	10	0.15952	T	0.53	-14.7049	8.4188	0.32687	0.0:0.8336:0.0:0.1664	.	254	Q6S9Z5	ZN474_HUMAN	F	254	ENSP00000296600:L254F	ENSP00000296600:L254F	L	+	1	0	ZNF474	121516344	0.950000	0.32346	0.781000	0.31783	0.066000	0.16364	1.862000	0.39448	2.544000	0.85801	0.655000	0.94253	CTC	ZNF474-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250883.2		+	ENST00000296600.4	Missense_Mutation	SNP	5 : 121488445 - 121488445 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	392	64
PEG3	5178	broad.mit.edu	37	19	57328183	57328183	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57328183C>T	ENST00000326441.9	-	10	1990	c.1627G>A	c.(1627-1629)Gcc>Acc	p.A543T	PEG3_ENST00000423103.2_Missense_Mutation_p.A543T|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.A419T|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.A417T|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	543					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGCATGAAGGCTTCCTCACAT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	168	169			NA	NA	19		NA											NA				57328183		2203	4300	6503	SO:0001583	missense			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300	5178	5178		Zinc fingers, C2H2-type, -, -, -	8826	protein-coding gene	gene with protein product		601483			NA	9149948	Standard		NM_006210	NA	Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1627G>A	19.37:g.57328183C>T	ENSP00000326581:p.Ala543Thr	NA	P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	5.086	0.201525	0.09652	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.01613	4.73;4.73	4.14	-3.55	0.04639	.	0.757041	0.11677	N	0.540227	T	0.00724	0.0024	N	0.03324	-0.35	.	.	.	B;B;B	0.14438	0.0;0.01;0.002	B;B;B	0.09377	0.001;0.002;0.004	T	0.46020	-0.9221	9	0.24483	T	0.36	-4.8432	2.2561	0.04055	0.1053:0.1573:0.3212:0.4162	.	419;543;478	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	T	543;543;513	ENSP00000326581:A543T;ENSP00000403051:A543T	ENSP00000292074:A513T	A	-	1	0	ZIM2	62019995	0.000000	0.05858	0.162000	0.22713	0.559000	0.35586	-1.296000	0.02762	-0.454000	0.07066	-0.355000	0.07637	GCC	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416099.2		-	ENST00000326441.9	Missense_Mutation	SNP	19 : 57328183 - 57328183 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1049	178
FLVCR1	28982	broad.mit.edu	37	1	213032402	213032402	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:213032402C>T	ENST00000366971.4	+	1	806	c.608C>T	c.(607-609)aCc>aTc	p.T203I		NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	203					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		TTCTGGGTCACCATGTTGGGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(199;2235 2952 19233 26256)							NA				0													63	52	56			NA	NA	1		NA											NA				213032402		2203	4300	6503	SO:0001583	missense			AF118637	CCDS1510.1	1q32.3	2014-05-30			ENSG00000162769	ENSG00000162769	28982	28982		Solute carriers	24682	protein-coding gene	gene with protein product		609144	ataxia, posterior column 1, with retinitis pigmentosa	AXPC1	NA	10400745, 10648427, 21070897	Standard	NM_014053	NM_014053	NA	Approved	FLVCR, MFSD7B, PCA	uc001hjt.3	Q9Y5Y0	OTTHUMG00000036924	ENST00000366971.4:c.608C>T	1.37:g.213032402C>T	ENSP00000355938:p.Thr203Ile	NA	Q1HE16|Q86XY9|Q9NVR9	37	CCDS1510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.112425|5.112425	0.94339|0.94339	.|.	.|.	ENSG00000162769|ENSG00000162769	ENST00000419102|ENST00000366971	.|T	.|0.56275	.|0.47	5.5|5.5	5.5|5.5	0.81552|0.81552	.|Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.64516|0.64516	0.2605|0.2605	M|M	0.78637|0.78637	2.42|2.42	0.80722|0.80722	D|D	1|1	.|P	.|0.51240	.|0.943	.|P	.|0.53722	.|0.733	T|T	0.62388|0.62388	-0.6865|-0.6865	5|10	.|0.07325	.|T	.|0.83	-10.737|-10.737	18.3846|18.3846	0.90463|0.90463	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|203	.|Q9Y5Y0	.|FLVC1_HUMAN	S|I	49|203	.|ENSP00000355938:T203I	.|ENSP00000355938:T203I	P|T	+|+	1|2	0|0	FLVCR1|FLVCR1	211099025|211099025	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.429000|7.429000	0.80309|0.80309	2.582000|2.582000	0.87167|0.87167	0.655000|0.655000	0.94253|0.94253	CCA|ACC	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089678.2		+	ENST00000366971.4	Missense_Mutation	SNP	1 : 213032402 - 213032402 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	336	87
ARID4B	51742	broad.mit.edu	37	1	235359344	235359344	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235359344A>G	ENST00000264183.3	-	18	2424		c.e18+1		ARID4B_ENST00000366603.2_Splice_Site|ARID4B_ENST00000349213.3_Splice_Site	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ACAAGCACTTACCTTTATTTT	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	111	113			NA	NA	1		NA											NA				235359344		2200	4297	6497	SO:0001630	splice_region_variant			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267	51742	51742		-	15550	protein-coding gene	gene with protein product		609696	retinoblastoma binding protein 1-like 1, AT rich interactive domain 4B (RBP1- like)	RBP1L1	NA	11481388	Standard	NM_016374	NM_016374	NA	Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.1926+1T>C	1.37:g.235359344A>G		NA	A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	37	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.391584	0.83011	.	.	ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183;ENST00000444620;ENST00000439834	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4757	0.75478	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARID4B	233425967	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	8.442000	0.90317	2.197000	0.70478	0.477000	0.44152	.	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095566.3	Intron	-	ENST00000264183.3	Splice_Site	SNP	1 : 235359344 - 235359344 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	223	34
IDO2	169355	broad.mit.edu	37	8	39872830	39872830	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39872830C>T	ENST00000389060.4	+	10	933	c.933C>T	c.(931-933)atC>atT	p.I311I	IDO2_ENST00000502986.2_Silent_p.I324I|IDO2_ENST00000343295.4_3'UTR			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	311					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						TAGAAGACATCCACTCAGCAC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	88	90			NA	NA	8		NA											NA				39872830		2019	4181	6200	SO:0001819	synonymous_variant			AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676	169355	169355			27269	protein-coding gene	gene with protein product		612129	indoleamine-pyrrole 2,3 dioxygenase-like 1	INDOL1	NA		Standard	NM_194294	NM_194294	NA	Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.933C>T	8.37:g.39872830C>T		NA	A4UD41	37																																																																																				IDO2-004	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000372742.1		+	ENST00000389060.4	Silent	SNP	8 : 39872830 - 39872830 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	251	41
FAM46C	54855	broad.mit.edu	37	1	118166379	118166379	+	Missense_Mutation	SNP	G	G	A	rs149654076	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118166379G>A	ENST00000369448.3	+	2	1136	c.889G>A	c.(889-891)Gct>Act	p.A297T		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	297										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		AAACCACTTCGCTGAAGAAGA	0.512		NA	Mis, F, O		MM					Multiple Myeloma(3;1.13e-06)			G	2	9e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0026	NA	NA	9e-04	0.9768	LOWCOV,EXOME	NA	NA	2e-04	SNP			Rec	yes		1	1p12	54855	family with sequence similarity 46, member C		L	0								G	THR/ALA	4,4402	8.1+/-20.4	0,4,2199	115	110	112		889	4.8	0.8	1	dbSNP_134	112	18,8582	14.6+/-50.1	0,18,4282	yes	missense	FAM46C	NM_017709.3	58	0,22,6481	AA,AG,GG	NA	0.2093,0.0908,0.1692	benign	297/392	118166379	22,12984	2203	4300	6503	SO:0001583	missense			BC036516	CCDS896.1	1p12	2008-02-05			ENSG00000183508	ENSG00000183508	54855	54855			24712	protein-coding gene	gene with protein product		613952			NA	12477932	Standard	NM_017709	NM_017709	NA	Approved	FLJ20202	uc001ehe.3	Q5VWP2	OTTHUMG00000013703	ENST00000369448.3:c.889G>A	1.37:g.118166379G>A	ENSP00000358458:p.Ala297Thr	NA	A3KMG2|Q8NE25|Q9NXK0	37	CCDS896.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	6.588	0.476815	0.12521	9.08E-4	0.002093	ENSG00000183508	ENST00000369448	T	0.22336	1.96	5.7	4.78	0.61160	Domain of unknown function DUF1693 (1);	0.501193	0.19639	N	0.109500	T	0.05914	0.0154	L	0.42245	1.32	0.23445	N	0.997669	B	0.23591	0.088	B	0.20577	0.03	T	0.28808	-1.0032	10	0.20519	T	0.43	-12.3519	7.4156	0.27042	0.0774:0.0:0.6044:0.3182	.	297	Q5VWP2	FA46C_HUMAN	T	297	ENSP00000358458:A297T	ENSP00000358458:A297T	A	+	1	0	FAM46C	117967902	0.961000	0.32948	0.800000	0.32199	0.958000	0.62258	2.228000	0.42981	1.381000	0.46364	0.655000	0.94253	GCT	FAM46C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000038424.1		+	ENST00000369448.3	Missense_Mutation	SNP	1 : 118166379 - 118166379 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	274	55
KLHL14	57565	broad.mit.edu	37	18	30321972	30321972	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:30321972G>T	ENST00000359358.4	-	3	1426	c.988C>A	c.(988-990)Ctg>Atg	p.L330M	KLHL14_ENST00000358095.4_Missense_Mutation_p.L330M	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	330						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CCAGGAGGCAGCCCTCCAACC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	89	91			NA	NA	18		NA											NA				30321972		2203	4300	6503	SO:0001583	missense			AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705	57565	57565		Kelch-like, BTB/POZ domain containing	29266	protein-coding gene	gene with protein product	printor	613772	kelch-like 14 (Drosophila)		NA	10718198, 19535332	Standard		NM_020805	NA	Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.988C>A	18.37:g.30321972G>T	ENSP00000352314:p.Leu330Met	NA	A6NNW1|B4DHA0|Q8WU41	37	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834539	0.32421	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	T;T	0.76839	-0.29;-1.05	6.11	1.37	0.22104	Galactose oxidase, beta-propeller (1);	0.000000	0.64402	D	0.000001	T	0.68943	0.3056	N	0.03983	-0.305	0.37945	D	0.932459	D	0.65815	0.995	D	0.72982	0.979	T	0.68861	-0.5297	10	0.33940	T	0.23	.	9.2446	0.37518	0.7086:0.0:0.2914:0.0	.	330	Q9P2G3	KLH14_HUMAN	M	330	ENSP00000352314:L330M;ENSP00000350808:L330M	ENSP00000350808:L330M	L	-	1	2	KLHL14	28575970	0.004000	0.15560	0.760000	0.31359	0.997000	0.91878	0.097000	0.15168	0.569000	0.29329	0.655000	0.94253	CTG	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448376.1		-	ENST00000359358.4	Missense_Mutation	SNP	18 : 30321972 - 30321972 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	227	38
GRM4	2914	broad.mit.edu	37	6	34004315	34004315	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34004315G>A	ENST00000538487.2	-	9	2015	c.1572C>T	c.(1570-1572)tgC>tgT	p.C524C	GRM4_ENST00000374177.3_Silent_p.C408C|GRM4_ENST00000544773.2_Silent_p.C355C|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000609222.1_Silent_p.C391C|GRM4_ENST00000455714.2_Silent_p.C384C|GRM4_ENST00000374181.4_Silent_p.C524C|GRM4_ENST00000535756.1_Silent_p.C391C	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	NA					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CACCCGGTTGGCAGGGCAGGC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	43	45			NA	NA	6		NA											NA				34004315		2202	4300	6502	SO:0001819	synonymous_variant			U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493	2914	2914		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4596	protein-coding gene	gene with protein product		604100			NA	8738157, 9473604	Standard		NM_000841	NA	Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.1572C>T	6.37:g.34004315G>A		NA	Q5SZ84	37	CCDS4787.1																																																																																			GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040213.2		-	ENST00000538487.2	Silent	SNP	6 : 34004315 - 34004315 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	433	88
RAB1B	81876	broad.mit.edu	37	11	66043694	66043694	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66043694C>T	ENST00000311481.6	+	6	738	c.591C>T	c.(589-591)ggC>ggT	p.G197G	RP11-867G23.3_ENST00000501708.1_lincRNA|RAB1B_ENST00000527397.1_Silent_p.G165G	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	197					protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						AGCCGGCTGGCGGTGGCTGTT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4396		0,0,2198	12	14	14		591	-5.9	0.8	11		14	1,8581		0,1,4290	no	coding-synonymous	RAB1B	NM_030981.2		0,1,6488	TT,TC,CC	NA	0.0117,0.0,0.0077		197/202	66043694	1,12977	2198	4291	6489	SO:0001819	synonymous_variant			AJ245875	CCDS31613.1	11q13.1	2008-02-05			ENSG00000174903	ENSG00000174903	81876	81876		RAB, member RAS oncogene	18370	protein-coding gene	gene with protein product		612565			NA	9030196	Standard	NM_030981	NM_030981	NA	Approved		uc001ohf.3	Q9H0U4	OTTHUMG00000166916	ENST00000311481.6:c.591C>T	11.37:g.66043694C>T		NA	A8K7S1	37	CCDS31613.1																																																																																			RAB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391886.2		+	ENST00000311481.6	Silent	SNP	11 : 66043694 - 66043694 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	85	19
TMEM132B	114795	broad.mit.edu	37	12	126128621	126128621	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:126128621G>T	ENST00000299308.3	+	6	1430		c.e6-1		TMEM132B_ENST00000535886.1_Splice_Site	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	NA						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCTTCCCAAAGGTTTCCAACA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	77	78			NA	NA	12		NA											NA				126128621		1941	4150	6091	SO:0001630	splice_region_variant			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02					114795	114795			29397	protein-coding gene	gene with protein product					NA	11572484	Standard	NM_052907	NM_001286219	NA	Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1423-1G>T	12.37:g.126128621G>T		NA	A2RRG8|Q8NA73|Q96JN9|Q96PY1	37	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.856831	0.32791	.	.	ENSG00000139364	ENST00000299308	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4324	0.94776	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM132B	124694574	1.000000	0.71417	0.994000	0.49952	0.026000	0.11368	9.552000	0.98115	2.578000	0.87016	0.655000	0.94253	.	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400043.1	Intron	+	ENST00000299308.3	Splice_Site	SNP	12 : 126128621 - 126128621 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	221	30
SRR	63826	broad.mit.edu	37	17	2224884	2224884	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2224884C>A	ENST00000344595.5	+	6	886	c.568C>A	c.(568-570)Ctt>Att	p.L190I	SRR_ENST00000576848.1_Intron	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	190					D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AGGAGGAATGCTTGCTGGAAT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	101	103			NA	NA	17		NA											NA				2224884		2203	4300	6503	SO:0001583	missense			AF169974	CCDS11017.1	17p13	2007-01-18			ENSG00000167720	ENSG00000167720	63826	63826			14398	protein-coding gene	gene with protein product		606477			NA	17067558, 15953485, 15193426	Standard	NM_021947	NM_021947	NA	Approved	ILV1, ISO1	uc002fue.1	Q9GZT4	OTTHUMG00000090583	ENST00000344595.5:c.568C>A	17.37:g.2224884C>A	ENSP00000339435:p.Leu190Ile	NA	D3DTI5|Q6IA55	37	CCDS11017.1	.	.	.	.	.	.	.	.	.	.	c	2.749	-0.260449	0.05791	.	.	ENSG00000167720	ENST00000344595	D	0.96396	-4.0	5.95	-4.59	0.03400	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.777035	0.12313	N	0.479999	D	0.83917	0.5358	N	0.03194	-0.395	0.20638	N	0.999872	B	0.02656	0.0	B	0.14578	0.011	T	0.78357	-0.2235	10	0.02654	T	1	1.469	7.3126	0.26483	0.401:0.2808:0.3182:0.0	.	190	Q9GZT4	SRR_HUMAN	I	190	ENSP00000339435:L190I	ENSP00000339435:L190I	L	+	1	0	SRR	2171634	0.167000	0.22975	0.866000	0.34008	0.944000	0.59088	-0.865000	0.04250	-0.596000	0.05821	-2.134000	0.00341	CTT	SRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207129.2		+	ENST00000344595.5	Missense_Mutation	SNP	17 : 2224884 - 2224884 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	374	61
YIPF1	54432	broad.mit.edu	37	1	54344385	54344385	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54344385C>T	ENST00000072644.1	-	5	542	c.206G>A	c.(205-207)gGa>gAa	p.G69E	YIPF1_ENST00000469457.1_5'UTR|YIPF1_ENST00000371399.1_5'UTR|YIPF1_ENST00000539954.1_Missense_Mutation_p.G94E	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	69						integral to membrane|transport vesicle				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						TTTCTTCTGTCCAGCAAGTAA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	81	80			NA	NA	1		NA											NA				54344385		2203	4300	6503	SO:0001583	missense			BC009674	CCDS584.1	1p33-p32.1	2008-02-05			ENSG00000058799	ENSG00000058799	54432	54432		Yip1 domain family	25231	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_018982	NM_018982	NA	Approved	DJ167A19.1, FinGER1	uc001cvu.3	Q9Y548	OTTHUMG00000008074	ENST00000072644.1:c.206G>A	1.37:g.54344385C>T	ENSP00000072644:p.Gly69Glu	NA	B2RCM7|D3DQ40|Q9NWJ1	37	CCDS584.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993707	0.54041	.	.	ENSG00000058799	ENST00000072644;ENST00000539954;ENST00000412288	.	.	.	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.60248	0.2254	L	0.34521	1.04	0.58432	D	0.999999	D	0.69078	0.997	P	0.59643	0.861	T	0.52609	-0.8553	9	0.11794	T	0.64	-0.3282	17.341	0.87296	0.0:1.0:0.0:0.0	.	69	Q9Y548	YIPF1_HUMAN	E	69;94;69	.	ENSP00000072644:G69E	G	-	2	0	YIPF1	54116973	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.317000	0.59184	2.478000	0.83669	0.591000	0.81541	GGA	YIPF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022103.5		-	ENST00000072644.1	Missense_Mutation	SNP	1 : 54344385 - 54344385 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	297	31
TET1	80312	broad.mit.edu	37	10	70426935	70426935	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70426935G>A	ENST00000373644.4	+	7	4804	c.4595G>A	c.(4594-4596)cGg>cAg	p.R1532Q		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1532					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ATGGCCGACCGGCTATACACA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	79	85			NA	NA	10		NA											NA				70426935		2203	4300	6503	SO:0001583	missense			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336	80312	80312			29484	protein-coding gene	gene with protein product	leukemia-associated protein with a CXXC domain, ten-eleven translocation-1	607790	CXXC zinc finger 6, tet oncogene 1	CXXC6	NA	12124344, 12646957	Standard	NM_030625	NM_030625	NA	Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.4595G>A	10.37:g.70426935G>A	ENSP00000362748:p.Arg1532Gln	NA	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	37	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319987	0.23994	.	.	ENSG00000138336	ENST00000373644;ENST00000545846	T	0.22743	1.94	5.21	-1.09	0.09904	TET cysteine-rich domain (1);	0.875458	0.09976	N	0.731632	T	0.16938	0.0407	L	0.57536	1.79	0.09310	N	1	B	0.33413	0.411	B	0.24394	0.053	T	0.16630	-1.0396	10	0.48119	T	0.1	.	7.1581	0.25649	0.3526:0.1771:0.4703:0.0	.	1532	Q8NFU7	TET1_HUMAN	Q	1532;4	ENSP00000362748:R1532Q	ENSP00000362748:R1532Q	R	+	2	0	TET1	70096941	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	0.202000	0.17295	-0.004000	0.14419	0.585000	0.79938	CGG	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048354.1		+	ENST00000373644.4	Missense_Mutation	SNP	10 : 70426935 - 70426935 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	170	42
FAM84A	151354	broad.mit.edu	37	2	14774877	14774877	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:14774877G>A	ENST00000295092.2	+	2	1062	c.774G>A	c.(772-774)agG>agA	p.R258R	FAM84A_ENST00000331243.4_Silent_p.R258R	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	258										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			ACACCGCCAGGTTTCACAGCC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	38	38			NA	NA	2		NA											NA				14774877		2203	4300	6503	SO:0001819	synonymous_variant			AJ417080, BC026346	CCDS1684.1	2p24.3	2005-08-09			ENSG00000162981	ENSG00000162981	151354	151354			20743	protein-coding gene	gene with protein product	neurological/sensory 1	611234			NA	14702039	Standard	NM_145175	NM_145175	NA	Approved	NSE1, FLJ35392	uc002rbz.2	Q96KN4	OTTHUMG00000119093	ENST00000295092.2:c.774G>A	2.37:g.14774877G>A		NA	A6NP76|Q86UZ2|Q8NAH7|Q8TAM5	37	CCDS1684.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.49|10.49	1.364511|1.364511	0.24684|0.24684	.|.	.|.	ENSG00000162981|ENSG00000162981	ENST00000540701|ENST00000359969	.|.	.|.	.|.	4.14|4.14	1.01|1.01	0.19927|0.19927	.|.	.|0.561393	.|0.18805	.|N	.|0.130682	.|T	.|0.48519	.|0.1504	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.19224	.|-1.0312	.|6	.|0.10377	.|T	.|0.69	.|-3.1899	13.8597|13.8597	0.63552|0.63552	0.0:0.4444:0.5556:0.0|0.0:0.4444:0.5556:0.0	.|.	.|.	.|.	.|.	.|D	-1|203	.|.	.|ENSP00000353054:G203D	.|G	+|+	.|2	.|0	FAM84A|FAM84A	14692328|14692328	0.982000|0.982000	0.34865|0.34865	0.964000|0.964000	0.40570|0.40570	0.994000|0.994000	0.84299|0.84299	0.211000|0.211000	0.17474|0.17474	0.073000|0.073000	0.16731|0.16731	0.455000|0.455000	0.32223|0.32223	.|GGT	FAM84A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239308.2		+	ENST00000295092.2	Silent	SNP	2 : 14774877 - 14774877 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	208	63
NELL2	4753	broad.mit.edu	37	12	44913879	44913879	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:44913879G>A	ENST00000429094.2	-	19	2813	c.2309C>T	c.(2308-2310)aCc>aTc	p.T770I	NELL2_ENST00000549027.1_Missense_Mutation_p.T769I|NELL2_ENST00000395487.2_Missense_Mutation_p.T769I|NELL2_ENST00000452445.2_Missense_Mutation_p.T770I|NELL2_ENST00000551601.1_Missense_Mutation_p.T722I|NELL2_ENST00000437801.2_Missense_Mutation_p.T820I|NELL2_ENST00000333837.4_Missense_Mutation_p.T793I	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	770	VWFC 5.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GCAAGTCTTGGTGATGTCATT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	108	115			NA	NA	12		NA											NA				44913879		2203	4300	6503	SO:0001583	missense			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613	4753	4753			7751	protein-coding gene	gene with protein product		602320	nel (chicken)-like 2		NA	19249368	Standard	NM_006159	NM_006159	NA	Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.2309C>T	12.37:g.44913879G>A	ENSP00000390680:p.Thr770Ile	NA		37	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545464	0.65198	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801	D;D;T;D;D;T;D	0.82344	-1.54;-1.52;-1.22;-1.52;-1.54;-1.48;-1.6	5.07	3.96	0.45880	.	0.054960	0.64402	D	0.000001	D	0.82416	0.5032	L	0.57536	1.79	0.50313	D	0.999869	B;P;P;P;B	0.45827	0.19;0.738;0.867;0.79;0.311	B;B;P;B;B	0.48030	0.11;0.382;0.564;0.255;0.13	T	0.79455	-0.1796	10	0.19590	T	0.45	-11.0837	14.3728	0.66852	0.0845:0.0:0.9155:0.0	.	793;820;722;770;769	B7Z2U7;B7Z9U3;F8VVB6;Q99435;Q96JS2	.;.;.;NELL2_HUMAN;.	I	769;770;722;770;769;793;820	ENSP00000378866:T769I;ENSP00000390680:T770I;ENSP00000449332:T722I;ENSP00000394612:T770I;ENSP00000447927:T769I;ENSP00000327988:T793I;ENSP00000416341:T820I	ENSP00000327988:T793I	T	-	2	0	NELL2	43200146	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.603000	0.67619	2.325000	0.78763	0.650000	0.86243	ACC	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404180.1		-	ENST00000429094.2	Missense_Mutation	SNP	12 : 44913879 - 44913879 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	343	38
ATR	545	broad.mit.edu	37	3	142241618	142241618	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142241618C>T	ENST00000350721.4	-	23	4339	c.4218G>A	c.(4216-4218)gcG>gcA	p.A1406A	ATR_ENST00000383101.3_Silent_p.A1342A	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1406					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TATCAGCATACGCAAGGTAAG	0.363		NA						Other conserved DNA damage response genes						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	134	132			NA	NA	3		NA											NA				142241618		2203	4300	6503	SO:0001819	synonymous_variant			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054	545	545			882	protein-coding gene	gene with protein product	MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)	601215	ataxia telangiectasia and Rad3 related		NA	8978690, 8610130	Standard	NM_001184	NM_001184	NA	Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.4218G>A	3.37:g.142241618C>T		NA	Q59HB2|Q7KYL3|Q93051|Q9BXK4	37	CCDS3124.1																																																																																			ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353995.2		-	ENST00000350721.4	Silent	SNP	3 : 142241618 - 142241618 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	562	44
SEL1L2	80343	broad.mit.edu	37	20	13869125	13869125	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13869125T>C	ENST00000284951.5	-	6	657	c.583A>G	c.(583-585)Atg>Gtg	p.M195V	SEL1L2_ENST00000378072.5_Missense_Mutation_p.M195V|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	195						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TCATATTCCATTCCTATTCCA	0.264		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	48	50			NA	NA	20		NA											NA				13869125		1803	4064	5867	SO:0001583	missense			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251	80343	80343			15897	protein-coding gene	gene with protein product		614289	chromosome 20 open reading frame 50	C20orf50	NA		Standard	NM_025229	NM_001271539	NA	Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.583A>G	20.37:g.13869125T>C	ENSP00000284951:p.Met195Val	NA		37		.	.	.	.	.	.	.	.	.	.	T	1.073	-0.669328	0.03403	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.41065	1.01;1.01	5.7	3.43	0.39272	Tetratricopeptide-like helical (1);	0.219927	0.41500	N	0.000872	T	0.10981	0.0268	N	0.00793	-1.18	0.31497	N	0.665227	B;B	0.06786	0.001;0.001	B;B	0.08055	0.0;0.003	T	0.30446	-0.9978	10	0.02654	T	1	-8.1736	6.8787	0.24160	0.0:0.1789:0.0:0.8211	.	195;195	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	V	195	ENSP00000367312:M195V;ENSP00000284951:M195V	ENSP00000284951:M195V	M	-	1	0	SEL1L2	13817125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.768000	0.26590	0.975000	0.38392	0.528000	0.53228	ATG	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000078067.3		-	ENST00000284951.5	Missense_Mutation	SNP	20 : 13869125 - 13869125 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	72	16
HEATR1	55127	broad.mit.edu	37	1	236748389	236748389	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236748389G>A	ENST00000366582.3	-	17	2291	c.2177C>T	c.(2176-2178)gCg>gTg	p.A726V	HEATR1_ENST00000366581.2_Missense_Mutation_p.A726V	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	726					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GACTCTTATCGCAAATGGAAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	105	105			NA	NA	1		NA											NA				236748389		2203	4300	6503	SO:0001583	missense			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285	55127	55127			25517	protein-coding gene	gene with protein product	UTP10, small subunit (SSU) processome component, homolog (yeast)				NA	17699751	Standard	XM_375853	NM_018072	NA	Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.2177C>T	1.37:g.236748389G>A	ENSP00000355541:p.Ala726Val	NA	Q5T3Q8|Q6P197|Q9NW23	37	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277165	0.59758	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.66815	0.01;-0.23	6.08	6.08	0.98989	Armadillo-type fold (1);	0.102560	0.64402	D	0.000003	T	0.63058	0.2479	M	0.64997	1.995	0.80722	D	1	P	0.37731	0.607	B	0.25614	0.062	T	0.68025	-0.5518	10	0.72032	D	0.01	.	18.8526	0.92238	0.0:0.0:1.0:0.0	.	726	Q9H583	HEAT1_HUMAN	V	726	ENSP00000355541:A726V;ENSP00000355540:A726V	ENSP00000355540:A726V	A	-	2	0	HEATR1	234815012	1.000000	0.71417	0.972000	0.41901	0.633000	0.38033	4.452000	0.60054	2.894000	0.99253	0.591000	0.81541	GCG	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096635.1		-	ENST00000366582.3	Missense_Mutation	SNP	1 : 236748389 - 236748389 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	475	27
TBXA2R	6915	broad.mit.edu	37	19	3600484	3600484	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3600484G>A	ENST00000375190.4	-	2	542	c.149C>T	c.(148-150)gCg>gTg	p.A50V	TBXA2R_ENST00000589966.1_Missense_Mutation_p.A50V|TBXA2R_ENST00000411851.3_Missense_Mutation_p.A50V	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	50					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CCGCGCGCCCGCCAGCACGCT	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	27	24			NA	NA	19		NA											NA				3600484		2105	4175	6280	SO:0001583	missense				CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17					NA	6915		GPCR / Class A : Prostanoid receptors	11608	protein-coding gene	gene with protein product		188070			NA	1825698	Standard		NM_001060	NA	Approved		uc021umv.1	P21731		ENST00000375190.4:c.149C>T	19.37:g.3600484G>A	ENSP00000364336:p.Ala50Val	NA	O75228|Q6DK52|Q9UCY1|Q9UCY2	37	CCDS42467.1	.	.	.	.	.	.	.	.	.	.	G	6.076	0.382300	0.11524	.	.	ENSG00000006638	ENST00000411851;ENST00000375190	T;T	0.36699	1.24;1.24	4.56	2.4	0.29515	GPCR, rhodopsin-like superfamily (1);	0.421699	0.23405	N	0.048533	T	0.16385	0.0394	L	0.35723	1.085	0.26961	N	0.965801	B;P	0.36086	0.031;0.536	B;B	0.28385	0.011;0.089	T	0.22591	-1.0212	10	0.02654	T	1	-16.8206	3.4159	0.07376	0.29:0.0:0.5265:0.1836	.	50;50	P21731;E2QRJ2	TA2R_HUMAN;.	V	50	ENSP00000393333:A50V;ENSP00000364336:A50V	ENSP00000364336:A50V	A	-	2	0	TBXA2R	3551484	0.822000	0.29219	0.371000	0.25978	0.224000	0.24922	1.946000	0.40283	0.441000	0.26529	-0.652000	0.03908	GCG	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453081.2		-	ENST00000375190.4	Missense_Mutation	SNP	19 : 3600484 - 3600484 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	248	31
PRRT2	112476	broad.mit.edu	37	16	29824802	29824802	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29824802G>T	ENST00000300797.6	+	2	601	c.427G>T	c.(427-429)Gac>Tac	p.D143Y	PRRT2_ENST00000358758.7_Missense_Mutation_p.D143Y|AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000567551.1_Intron|PRRT2_ENST00000567659.1_Missense_Mutation_p.D143Y			Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	143	Pro-rich.				response to biotic stimulus	integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						TCCCCAACCAGACCCCCGGCC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	39	37			NA	NA	16		NA											NA				29824802		2197	4300	6497	SO:0001583	missense			BC011405	CCDS10654.1, CCDS58445.1, CCDS58446.1	16p11.2	2014-02-03			ENSG00000167371	ENSG00000167371	112476	112476		Proline-rich transmembrane proteins	30500	protein-coding gene	gene with protein product	interferon induced transmembrane protein domain containing 1	614386	infantile convulsions and paroxysmal choreoathetosis	ICCA	NA	22101681, 22243967	Standard	NM_145239	NM_145239	NA	Approved	FLJ25513, DKFZp547J199, IFITMD1, FICCA	uc002dud.3	Q7Z6L0	OTTHUMG00000177142	ENST00000300797.6:c.427G>T	16.37:g.29824802G>T	ENSP00000300797:p.Asp143Tyr	NA	A8K8M8|Q8N2N8|Q8NAQ7|Q8ND36|Q96FA8	37	CCDS58446.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.221955	0.39300	.	.	ENSG00000167371	ENST00000358758;ENST00000300797	T;T	0.72051	-0.62;0.25	3.97	3.97	0.46021	.	0.778179	0.11447	N	0.563121	T	0.72415	0.3457	L	0.27053	0.805	0.34795	D	0.736158	D;D;D	0.76494	0.999;0.992;0.995	P;P;P	0.61003	0.882;0.67;0.823	T	0.76870	-0.2799	10	0.72032	D	0.01	-3.8345	11.7683	0.51943	0.0:0.0:1.0:0.0	.	143;143;143	Q7Z6L0-3;Q7Z6L0;Q7Z6L0-2	.;PRRT2_HUMAN;.	Y	143	ENSP00000351608:D143Y;ENSP00000300797:D143Y	ENSP00000300797:D143Y	D	+	1	0	PRRT2	29732303	0.195000	0.23338	0.993000	0.49108	0.575000	0.36095	1.338000	0.33873	2.242000	0.73789	0.563000	0.77884	GAC	PRRT2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000435562.1		+	ENST00000300797.6	Missense_Mutation	SNP	16 : 29824802 - 29824802 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	316	80
TTLL10	254173	broad.mit.edu	37	1	1115463	1115463	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1115463G>A	ENST00000379290.1	+	6	422	c.249G>A	c.(247-249)cgG>cgA	p.R83R	TTLL10_ENST00000379288.3_Silent_p.R10R|TTLL10_ENST00000379289.1_Silent_p.R83R			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	83					protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGGGACTCCGGTGTCAGCCAA	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	30	29			NA	NA	1		NA											NA				1115463		2198	4294	6492	SO:0001819	synonymous_variant			AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571	254173	254173		Tubulin tyrosine ligase-like family	26693	protein-coding gene	gene with protein product			tubulin tyrosine ligase-like family, member 5	TTLL5	NA	15890843	Standard	NM_153254	NM_153254	NA	Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.249G>A	1.37:g.1115463G>A		NA	B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	37	CCDS44036.1																																																																																			TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000002421.3		+	ENST00000379290.1	Silent	SNP	1 : 1115463 - 1115463 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	126	37
ANKRD17	26057	broad.mit.edu	37	4	74124155	74124155	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74124155G>A	ENST00000358602.4	-	1	347	c.231C>T	c.(229-231)aaC>aaT	p.N77N	ANKRD17_ENST00000330838.6_Silent_p.N77N	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	77					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGCAAGTCCGGTTACGCTTGG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	28	28			NA	NA	4		NA											NA				74124155		2201	4299	6500	SO:0001819	synonymous_variant			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466	26057	26057		Ankyrin repeat domain containing	23575	protein-coding gene	gene with protein product		615929			NA	11165478	Standard	NM_032217	NM_032217	NA	Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.231C>T	4.37:g.74124155G>A		NA	Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	37	CCDS34004.1																																																																																			ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362475.1		-	ENST00000358602.4	Silent	SNP	4 : 74124155 - 74124155 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	190	27
CIB1	10519	broad.mit.edu	37	15	90774380	90774380	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90774380C>A	ENST00000328649.6	-	5	573	c.412G>T	c.(412-414)Gag>Tag	p.E138*		NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)	138	EF-hand 1.				apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TCCTCGCCCTCTCCCGTGAGG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	86	86			NA	NA	15		NA											NA				90774380		2199	4298	6497	SO:0001587	stop_gained			U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043	10519	10519		EF-hand domain containing	16920	protein-coding gene	gene with protein product		602293			NA	9030514, 10826701	Standard		NM_006384	NA	Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808	ENST00000328649.6:c.412G>T	15.37:g.90774380C>A	ENSP00000333873:p.Glu138*	NA	B5BU40|O00693|O00735|Q6IB49|Q96J54|Q99971	37	CCDS10360.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246815	0.80024	.	.	ENSG00000185043	ENST00000328649	.	.	.	5.44	3.53	0.40419	.	0.337042	0.33496	N	0.004852	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-20.3041	9.9796	0.41806	0.0:0.6325:0.2911:0.0764	.	.	.	.	X	138	.	ENSP00000333873:E138X	E	-	1	0	CIB1	88575384	0.996000	0.38824	0.944000	0.38274	0.348000	0.29142	3.252000	0.51461	1.284000	0.44531	0.655000	0.94253	GAG	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313419.1		-	ENST00000328649.6	Nonsense_Mutation	SNP	15 : 90774380 - 90774380 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	472	59
GAS2L1	10634	broad.mit.edu	37	22	29708458	29708458	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29708458C>T	ENST00000406549.3	+	6	1487	c.1337C>T	c.(1336-1338)cCg>cTg	p.P446L	GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000471961.1_3'UTR|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000407647.2_3'UTR	NM_001278730.1	NP_001265659.1	Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	673					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						TCAGTCACCCCGAGGGCTGAG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	19	18			NA	NA	22		NA											NA				29708458		1987	4160	6147	SO:0001583	missense			BC001782	CCDS63438.1, CCDS74840.1	22q12.2	2008-06-11			ENSG00000185340	ENSG00000185340	10634	10634			16955	protein-coding gene	gene with protein product		602128			NA	8975699, 12584248, 1607387	Standard	NM_006478	NM_001278730	NA	Approved	GAR22	uc003afc.1	Q99501	OTTHUMG00000151108	ENST00000406549.3:c.1337C>T	22.37:g.29708458C>T	ENSP00000383995:p.Pro446Leu	NA	Q53EN7|Q92640|Q9BUY9	37		.	.	.	.	.	.	.	.	.	.	C	13.89	2.370619	0.42003	.	.	ENSG00000185340	ENST00000333679;ENST00000406549	T	0.57752	0.38	3.32	2.31	0.28768	.	.	.	.	.	T	0.35998	0.0951	.	.	.	0.54753	D	0.999987	B;P;P	0.47253	0.342;0.892;0.892	B;B;B	0.32149	0.05;0.141;0.141	T	0.34527	-0.9825	8	0.87932	D	0	-0.9708	8.5293	0.33324	0.0:0.8849:0.0:0.1151	.	446;673;673	B5MCR7;A0A5E8;Q99501	.;.;GA2L1_HUMAN	L	672;446	ENSP00000383995:P446L	ENSP00000332834:P672L	P	+	2	0	GAS2L1	28038458	0.240000	0.23847	0.044000	0.18714	0.936000	0.57629	4.690000	0.61731	0.986000	0.38683	0.491000	0.48974	CCG	GAS2L1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000321365.1		+	ENST00000406549.3	Missense_Mutation	SNP	22 : 29708458 - 29708458 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	156	20
NEMF	9147	broad.mit.edu	37	14	50318311	50318311	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50318311C>A	ENST00000298310.5	-	3	650	c.201G>T	c.(199-201)aaG>aaT	p.K67N	NEMF_ENST00000546046.1_Missense_Mutation_p.K67N|NEMF_ENST00000545773.1_Missense_Mutation_p.K67N|NEMF_ENST00000556672.1_Missense_Mutation_p.K67N			O60524	NEMF_HUMAN	nuclear export mediator factor	67						cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						GCATCATATTCTTAGGCCACT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	114	115			NA	NA	14		NA											NA				50318311		2203	4300	6503	SO:0001583	missense			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525	9147	9147			10663	protein-coding gene	gene with protein product		608378	serologically defined colon cancer antigen 1	SDCCAG1	NA	9610721, 10575219	Standard	NM_004713	XR_429334	NA	Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.201G>T	14.37:g.50318311C>A	ENSP00000298310:p.Lys67Asn	NA	A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	37	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892214	0.72524	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000555970;ENST00000554626;ENST00000556672	T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25	5.47	4.54	0.55810	Fibronectin-binding A, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61677	0.2366	M	0.86502	2.82	0.80722	D	1	P;D;D;D	0.89917	0.754;1.0;1.0;1.0	P;D;D;D	0.91635	0.623;0.997;0.997;0.999	T	0.64050	-0.6498	10	0.41790	T	0.15	-12.656	10.3203	0.43762	0.0:0.8275:0.0:0.1725	.	67;67;67;67	O60524-3;O60524-5;O60524-4;O60524	.;.;.;NEMF_HUMAN	N	67	ENSP00000298310:K67N;ENSP00000438309:K67N;ENSP00000441016:K67N;ENSP00000452540:K67N;ENSP00000451740:K67N;ENSP00000452174:K67N	ENSP00000298310:K67N	K	-	3	2	NEMF	49388061	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.565000	0.36386	1.224000	0.43551	0.455000	0.32223	AAG	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410798.1		-	ENST00000298310.5	Missense_Mutation	SNP	14 : 50318311 - 50318311 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	343	59
PCDHA2	56146	broad.mit.edu	37	5	140182308	140182308	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140182308C>T	ENST00000520672.2	+	2	2494				PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.S509L|PCDHA3_ENST00000522353.2_Missense_Mutation_p.S509L|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_031496.1	NP_113684.1			protocadherin alpha 2	NA										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTACGTGTCGGTACACGCG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	75	75			NA	NA	5		NA											NA				140182308		2203	4299	6502	SO:0001627	intron_variant			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969	56146	56146		Cadherins / Protocadherins : Clustered	8668	other	complex locus constituent	KIAA0345-like 12	606308			NA	10380929	Standard	NM_018905	NM_018905	NA	Approved			Q9Y5H9		ENST00000520672.2:c.2389-2337C>T	5.37:g.140182308C>T		NA		37		.	.	.	.	.	.	.	.	.	.	c	19.17	3.775803	0.70107	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.53857	0.6;0.6	4.75	4.75	0.60458	Cadherin (4);Cadherin-like (1);	0.000000	0.38663	U	0.001610	T	0.74816	0.3766	M	0.79926	2.475	0.30931	N	0.72689	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.77816	-0.2447	10	0.87932	D	0	.	18.1666	0.89729	0.0:1.0:0.0:0.0	.	509;509	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	L	509	ENSP00000429808:S509L;ENSP00000434086:S509L	ENSP00000429808:S509L	S	+	2	0	PCDHA3	140162492	0.685000	0.27652	0.996000	0.52242	0.848000	0.48234	1.360000	0.34125	2.374000	0.81015	0.461000	0.40582	TCG	PCDHA2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000374265.2		+	ENST00000520672.2	Intron	SNP	5 : 140182308 - 140182308 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	767	173
ZWINT	11130	broad.mit.edu	37	10	58118706	58118706	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:58118706C>T	ENST00000373944.3	-	6	521	c.483G>A	c.(481-483)gaG>gaA	p.E161E	ZWINT_ENST00000361148.6_Silent_p.E161E|ZWINT_ENST00000395405.1_Silent_p.E161E|ZWINT_ENST00000318387.2_Silent_p.E41E|ZWINT_ENST00000460654.1_5'UTR			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	161					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						GCAGATGCTTCTCCTGCCAGG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	62	63			NA	NA	10		NA											NA				58118706		2203	4300	6503	SO:0001819	synonymous_variant			AF067656	CCDS7249.1, CCDS31205.1	10q21-q22	2013-05-01	2013-05-01		ENSG00000122952	ENSG00000122952	NA	11130			13195	protein-coding gene	gene with protein product		609177	ZW10 interactor		NA		Standard		XM_005269463	NA	Approved	KNTC2AP	uc001jka.1	O95229	OTTHUMG00000018261	ENST00000373944.3:c.483G>A	10.37:g.58118706C>T		NA	Q0D2I3|Q9BWD0	37	CCDS7249.1																																																																																			ZWINT-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048132.1		-	ENST00000373944.3	Silent	SNP	10 : 58118706 - 58118706 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	479	81
IMPACT	55364	broad.mit.edu	37	18	22029853	22029853	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22029853G>A	ENST00000284202.4	+	10	971	c.830G>A	c.(829-831)cGc>cAc	p.R277H		NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	277										endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					GGACCAGATCGCTTTAAACAT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	117	122			NA	NA	18		NA											NA				22029853		2203	4300	6503	SO:0001583	missense			AB026264	CCDS11886.1	18q11.2-q12.1	2012-12-07	2012-12-07		ENSG00000154059	ENSG00000154059	55364	55364			20387	protein-coding gene	gene with protein product	RWD domain containing 5	615319	Impact homolog (mouse)		NA	11116084	Standard	NM_018439	NM_018439	NA	Approved	RWDD5	uc002kvh.4	Q9P2X3	OTTHUMG00000131943	ENST00000284202.4:c.830G>A	18.37:g.22029853G>A	ENSP00000284202:p.Arg277His	NA	A8MXG0|Q49AM0|Q9H2X4	37	CCDS11886.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574473	0.65878	.	.	ENSG00000154059	ENST00000284202	T	0.64260	-0.09	5.93	5.93	0.95920	Ribosomal protein S5 domain 2-type fold (1);Impact, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.78572	0.4304	M	0.92507	3.315	0.80722	D	1	D	0.60160	0.987	P	0.49085	0.6	D	0.84239	0.0471	10	0.87932	D	0	.	19.1136	0.93328	0.0:0.0:1.0:0.0	.	277	Q9P2X3	IMPCT_HUMAN	H	277	ENSP00000284202:R277H	ENSP00000284202:R277H	R	+	2	0	IMPACT	20283851	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.250000	0.95477	2.810000	0.96702	0.655000	0.94253	CGC	IMPACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254901.1		+	ENST00000284202.4	Missense_Mutation	SNP	18 : 22029853 - 22029853 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	433	80
DOCK2	1794	broad.mit.edu	37	5	169503008	169503008	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169503008C>T	ENST00000520908.1	+	33	3426	c.3262C>T	c.(3262-3264)Cga>Tga	p.R1088*	DOCK2_ENST00000540750.1_Nonsense_Mutation_p.R657*|DOCK2_ENST00000256935.8_Nonsense_Mutation_p.R1596*|DOCK2_ENST00000523351.1_3'UTR			Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1596	Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGATAACTTGCGACCCTTCCA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	158	159			NA	NA	5		NA											NA				169503008		2203	4300	6503	SO:0001587	stop_gained			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516	1794	1794			2988	protein-coding gene	gene with protein product		603122	dedicator of cyto-kinesis 2		NA		Standard	NM_004946	NM_004946	NA	Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000520908.1:c.3262C>T	5.37:g.169503008C>T	ENSP00000429283:p.Arg1088*	NA	Q2M3I0|Q96AK7	37		.	.	.	.	.	.	.	.	.	.	C	50	17.264852	0.99882	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	.	.	.	5.18	3.34	0.38264	.	0.064498	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3087	0.66400	0.2713:0.7287:0.0:0.0	.	.	.	.	X	1596;1088;657	.	ENSP00000256935:R1596X	R	+	1	2	DOCK2	169435586	1.000000	0.71417	0.994000	0.49952	0.509000	0.34042	1.863000	0.39459	0.655000	0.30866	-0.158000	0.13435	CGA	DOCK2-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000371643.1		+	ENST00000520908.1	Nonsense_Mutation	SNP	5 : 169503008 - 169503008 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	777	133
KIAA0195	9772	broad.mit.edu	37	17	73494598	73494598	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73494598G>A	ENST00000314256.7	+	29	4106	c.3712G>A	c.(3712-3714)Gcc>Acc	p.A1238T	KIAA0195_ENST00000579208.1_Missense_Mutation_p.A889T|KIAA0195_ENST00000375248.5_Missense_Mutation_p.A1248T	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1238					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTCACGGCCGCCCTGATTGT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	66	68			NA	NA	17		NA											NA				73494598		2203	4300	6503	SO:0001583	missense				CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728	9772	9772			28983	protein-coding gene	gene with protein product					NA	8724849	Standard	NM_014738	NM_014738	NA	Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.3712G>A	17.37:g.73494598G>A	ENSP00000313885:p.Ala1238Thr	NA	O75536|Q86XF1	37	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823393	0.50739	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.96232	-3.95;-3.95	5.26	4.3	0.51218	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.185058	0.45606	N	0.000351	D	0.88175	0.6366	N	0.11427	0.14	0.35385	D	0.790261	P;P;B;P	0.48162	0.906;0.792;0.002;0.826	B;B;B;B	0.37650	0.255;0.063;0.001;0.104	D	0.88180	0.2870	10	0.21540	T	0.41	-20.8489	8.6701	0.34145	0.0762:0.0:0.7733:0.1505	.	1248;1248;1238;1238	B4DGC6;C9JL75;Q12767-2;Q12767	.;.;.;K0195_HUMAN	T	1238;1248	ENSP00000313885:A1238T;ENSP00000364397:A1248T	ENSP00000313885:A1238T	A	+	1	0	KIAA0195	71006193	0.989000	0.36119	0.871000	0.34182	0.991000	0.79684	2.266000	0.43320	1.217000	0.43442	0.467000	0.42956	GCC	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447303.1		+	ENST00000314256.7	Missense_Mutation	SNP	17 : 73494598 - 73494598 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	59
RMDN3	55177	broad.mit.edu	37	15	41043684	41043684	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41043684C>T	ENST00000260385.6	-	3	1531	c.464G>A	c.(463-465)aGc>aAc	p.S155N	RMDN3_ENST00000558560.1_5'UTR|RMDN3_ENST00000338376.3_Missense_Mutation_p.S155N					regulator of microtubule dynamics 3	NA											NA						GTAGACAGAGCTGGAGCCAGT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	85	85			NA	NA	15		NA											NA				41043684		2203	4300	6503	SO:0001583	missense			AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824	55177	55177			25550	protein-coding gene	gene with protein product		611873	family with sequence similarity 82, member A2	FAM82C, FAM82A2	NA	12975309	Standard	NM_018145	XM_005254531	NA	Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.464G>A	15.37:g.41043684C>T	ENSP00000260385:p.Ser155Asn	NA		37	CCDS10063.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.794876	0.90453	.	.	ENSG00000137824	ENST00000260385;ENST00000338376;ENST00000426872	T;T	0.47177	0.85;0.85	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.67258	0.2874	M	0.72894	2.215	0.46701	D	0.999169	D	0.67145	0.996	D	0.63877	0.919	T	0.69661	-0.5085	10	0.56958	D	0.05	-12.9295	18.4611	0.90738	0.0:1.0:0.0:0.0	.	155	Q96TC7	RMD3_HUMAN	N	155;155;92	ENSP00000260385:S155N;ENSP00000342493:S155N	ENSP00000260385:S155N	S	-	2	0	FAM82A2	38830976	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.871000	0.69628	2.457000	0.83068	0.555000	0.69702	AGC	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252357.1		-	ENST00000260385.6	Missense_Mutation	SNP	15 : 41043684 - 41043684 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	636	124
TTC40	0	broad.mit.edu	37	10	134743011	134743011	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134743011C>T	ENST00000368586.5	-	9	1067				TTC40_ENST00000368582.2_Intron|TTC40_ENST00000368585.3_Silent_p.P388P	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN		NA										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						taaagagaaacgggcaggtgt	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	57	60			NA	NA	10		NA											NA				134743011		2202	4300	6502	SO:0001627	intron_variant											NA	NA			NA							NA					NA						ENST00000368586.5:c.966+197G>A	10.37:g.134743011C>T		NA	Q5JSF7|Q9NTQ5	37	CCDS58101.1																																																																																			TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051095.3		-	ENST00000368586.5	Intron	SNP	10 : 134743011 - 134743011 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	124	16
KCNH5	27133	broad.mit.edu	37	14	63473112	63473112	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63473112G>T	ENST00000322893.7	-	3	544	c.276C>A	c.(274-276)tgC>tgA	p.C92*	KCNH5_ENST00000394968.1_Nonsense_Mutation_p.C34*|KCNH5_ENST00000420622.2_Nonsense_Mutation_p.C92*|KCNH5_ENST00000394964.2_Nonsense_Mutation_p.C34*	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	92	PAC.				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)		GAACTTCAAAGCAGTTTGATT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	98	99			NA	NA	14		NA											NA				63473112		2202	4299	6501	SO:0001587	stop_gained			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.276C>A	14.37:g.63473112G>T	ENSP00000321427:p.Cys92*	NA		37	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	36	5.643477	0.96704	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	.	.	.	5.35	0.143	0.14820	.	0.046540	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	9.0009	0.36081	0.4595:0.0:0.5405:0.0	.	.	.	.	X	92;92;34;34	.	ENSP00000321427:C92X	C	-	3	2	KCNH5	62542865	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	1.085000	0.30840	-0.203000	0.10251	0.655000	0.94253	TGC	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411747.1		-	ENST00000322893.7	Nonsense_Mutation	SNP	14 : 63473112 - 63473112 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	42
TMC8	147138	broad.mit.edu	37	17	76128508	76128508	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76128508A>G	ENST00000318430.5	+	4	741	c.367A>G	c.(367-369)Agc>Ggc	p.S123G	TMC8_ENST00000589691.1_5'UTR	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	123						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CAACCTGCTGAGCCTGCTGCT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	37	41			NA	NA	17		NA											NA				76128508		2200	4300	6500	SO:0001583	missense			AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895	147138	147138			20474	protein-coding gene	gene with protein product		605829	epidermodysplasia verruciformis 2	EVER2	NA	12426567	Standard		NM_152468	NA	Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.367A>G	17.37:g.76128508A>G	ENSP00000325561:p.Ser123Gly	NA	Q2YDC0|Q8IWU7|Q8N358|Q8NF04	37	CCDS32749.1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.465858	0.26335	.	.	ENSG00000167895	ENST00000318430;ENST00000301627	T	0.55413	0.52	4.13	4.13	0.48395	.	0.610314	0.17676	N	0.165800	T	0.35128	0.0921	N	0.25245	0.725	0.39951	D	0.974545	B	0.21381	0.055	B	0.16722	0.016	T	0.30880	-0.9963	10	0.54805	T	0.06	-27.8647	6.1247	0.20172	0.8852:0.0:0.1148:0.0	.	123	Q8IU68	TMC8_HUMAN	G	123	ENSP00000325561:S123G	ENSP00000301627:S123G	S	+	1	0	TMC8	73640103	0.134000	0.22483	0.780000	0.31762	0.293000	0.27360	1.004000	0.29822	1.738000	0.51689	0.459000	0.35465	AGC	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000436900.3		+	ENST00000318430.5	Missense_Mutation	SNP	17 : 76128508 - 76128508 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	136	14
RHOBTB2	23221	broad.mit.edu	37	8	22864733	22864733	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22864733A>G	ENST00000519685.1	+	7	1324	c.1041A>G	c.(1039-1041)caA>caG	p.Q347Q	RHOBTB2_ENST00000251822.6_Silent_p.Q325Q|RHOBTB2_ENST00000522948.1_Silent_p.Q332Q|RP11-875O11.1_ENST00000523884.1_RNA|RP11-875O11.1_ENST00000502083.2_RNA	NM_001160036.1	NP_001153508.1	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	325	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		ACTCTGATCAAcaccaccacc	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	41	40			NA	NA	8		NA											NA				22864733		2203	4300	6503	SO:0001819	synonymous_variant			AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853	23221	23221		BTB/POZ domain containing	18756	protein-coding gene	gene with protein product		607352			NA	11222756	Standard		NM_001160036	NA	Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000519685.1:c.1041A>G	8.37:g.22864733A>G		NA	D3DSR8|O94825|Q8N4A8|Q9BZK6	37	CCDS55210.1																																																																																			RHOBTB2-002	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375197.2		+	ENST00000519685.1	Silent	SNP	8 : 22864733 - 22864733 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	394	90
AUNIP	79000	broad.mit.edu	37	1	26162173	26162173	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26162173C>T	ENST00000374298.3	-	3	439	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K	AUNIP_ENST00000538789.1_Missense_Mutation_p.E129K|AUNIP_ENST00000481602.1_Intron	NM_024037.1	NP_076942.1			aurora kinase A and ninein interacting protein	NA											NA						AGTCCAGCTTCCTGGATGTCT	0.507		NA											C	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	1	EXOME	NA	NA	7e-04	SNP								NA				0													160	151	154			NA	NA	1		NA											NA				26162173		2203	4300	6503	SO:0001583	missense				CCDS266.1, CCDS72731.1	1p36.11	2012-08-07	2012-08-07	2012-08-07	ENSG00000127423	ENSG00000127423	79000	79000			28363	protein-coding gene	gene with protein product			chromosome 1 open reading frame 135	C1orf135	NA	20596670	Standard	NM_024037	NM_001287490	NA	Approved	MGC2603, AIBp	uc001bkw.1	Q9H7T9	OTTHUMG00000007372	ENST00000374298.3:c.385G>A	1.37:g.26162173C>T	ENSP00000363416:p.Glu129Lys	NA		37	CCDS266.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	23.4	4.409875	0.83340	.	.	ENSG00000127423	ENST00000538789;ENST00000374298	T;T	0.56444	0.46;0.46	5.14	5.14	0.70334	.	0.249755	0.28279	N	0.015927	T	0.53818	0.1820	L	0.34521	1.04	0.39991	D	0.975042	P	0.51351	0.944	P	0.52957	0.714	T	0.56486	-0.7971	10	0.56958	D	0.05	-11.4956	13.9704	0.64237	0.0:1.0:0.0:0.0	.	129	Q9H7T9	CA135_HUMAN	K	129	ENSP00000443647:E129K;ENSP00000363416:E129K	ENSP00000363416:E129K	E	-	1	0	C1orf135	26034760	0.983000	0.35010	0.982000	0.44146	0.955000	0.61496	3.347000	0.52200	2.671000	0.90904	0.585000	0.79938	GAA	AUNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019309.2		-	ENST00000374298.3	Missense_Mutation	SNP	1 : 26162173 - 26162173 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	430	85
SALL1	6299	broad.mit.edu	37	16	51174870	51174870	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:51174870G>T	ENST00000251020.4	-	2	1296	c.1263C>A	c.(1261-1263)gcC>gcA	p.A421A	SALL1_ENST00000440970.1_Silent_p.A324A|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	421					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GCTGGGCCAAGGCAGACAAGG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(103;1352 1446 1855 4775 8890)							NA				0			GRCh37	CD054417	SALL1	D							101	102	102			NA	NA	16		NA											NA				51174870		2198	4300	6498	SO:0001819	synonymous_variant			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449	6299	6299		Zinc fingers, C2H2-type	10524	protein-coding gene	gene with protein product		602218	sal (Drosophila)-like 1, sal-like 1 (Drosophila)	TBS	NA	9425907	Standard	NM_002968	NM_002968	NA	Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1263C>A	16.37:g.51174870G>T		NA	Q99881|Q9NSC3|Q9P1R0	37	CCDS10747.1																																																																																			SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256883.2		-	ENST00000251020.4	Silent	SNP	16 : 51174870 - 51174870 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	684	115
NUP153	9972	broad.mit.edu	37	6	17626368	17626368	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17626368C>G	ENST00000262077.2	-	19	3571	c.3572G>C	c.(3571-3573)aGt>aCt	p.S1191T	NUP153_ENST00000537253.1_Missense_Mutation_p.S1222T	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1191					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GTTCAAGAAACTAAAAACTGG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	45	45			NA	NA	6		NA											NA				17626368		2203	4300	6503	SO:0001583	missense			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789	9972	9972			8062	protein-coding gene	gene with protein product		603948	nucleoporin 153kD		NA	8110839	Standard		NM_001278209	NA	Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.3572G>C	6.37:g.17626368C>G	ENSP00000262077:p.Ser1191Thr	NA	Q5T9I7	37	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.021807	0.35701	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.14516	2.55;2.5	5.39	-1.33	0.09172	.	0.331489	0.25753	N	0.028540	T	0.07007	0.0178	M	0.72894	2.215	0.39995	D	0.975091	P;B;P	0.42078	0.607;0.397;0.77	B;B;B	0.39590	0.304;0.146;0.219	T	0.17623	-1.0363	10	0.38643	T	0.18	-2.401	10.9874	0.47530	0.0:0.558:0.0:0.442	.	1222;1171;1191	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	T	1191;1171;1222	ENSP00000262077:S1191T;ENSP00000444029:S1222T	ENSP00000262077:S1191T	S	-	2	0	NUP153	17734347	0.979000	0.34478	0.957000	0.39632	0.861000	0.49209	0.010000	0.13242	-0.197000	0.10350	-0.244000	0.11960	AGT	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039953.1		-	ENST00000262077.2	Missense_Mutation	SNP	6 : 17626368 - 17626368 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	254	47
SEC16A	9919	broad.mit.edu	37	9	139371010	139371010	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139371010G>T	ENST00000371706.3	-	1	557	c.524C>A	c.(523-525)gCt>gAt	p.A175D	SEC16A_ENST00000290037.6_Missense_Mutation_p.A175D|SEC16A_ENST00000431893.2_Missense_Mutation_p.A175D|SEC16A_ENST00000313050.7_Missense_Mutation_p.A353D			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	175					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCCGGCCCCAGCCCCCAGTGG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	17	17			NA	NA	9		NA											NA				139371010		1844	4088	5932	SO:0001583	missense			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396	9919	9919			29006	protein-coding gene	gene with protein product		612854	KIAA0310	KIAA0310	NA	9205841	Standard	XM_088459	NM_014866	NA	Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.524C>A	9.37:g.139371010G>T	ENSP00000360771:p.Ala175Asp	NA	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	37		.	.	.	.	.	.	.	.	.	.	G	18.46	3.628865	0.67015	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893	T;T;T;T	0.26518	1.73;1.73;1.73;1.74	5.21	4.31	0.51392	.	0.471361	0.19691	N	0.108264	T	0.38665	0.1049	M	0.65975	2.015	0.58432	D	0.999997	P;D;D	0.53462	0.933;0.96;0.96	P;P;P	0.52856	0.518;0.711;0.711	T	0.13176	-1.0519	10	0.28530	T	0.3	-4.6305	13.4519	0.61176	0.0763:0.0:0.9237:0.0	.	353;175;175	F1T0I1;O15027-5;O15027-4	.;.;.	D	353;175;175;175	ENSP00000325827:A353D;ENSP00000360771:A175D;ENSP00000290037:A175D;ENSP00000387583:A175D	ENSP00000290037:A175D	A	-	2	0	SEC16A	138490831	0.018000	0.18449	0.008000	0.14137	0.032000	0.12392	1.957000	0.40392	1.326000	0.45319	0.655000	0.94253	GCT	SEC16A-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000055077.1		-	ENST00000371706.3	Missense_Mutation	SNP	9 : 139371010 - 139371010 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	143	28
NTN3	4917	broad.mit.edu	37	16	2522741	2522741	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2522741A>C	ENST00000293973.1	+	2	1171	c.968A>C	c.(967-969)aAc>aCc	p.N323T		NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	323	Laminin EGF-like 2.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						TGCCGCTTCAACATGGAGCTG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	52	49			NA	NA	16		NA											NA				2522741		2158	4249	6407	SO:0001583	missense			U86759	CCDS10469.1	16p13.3	2013-03-01	2008-10-29	2008-10-29	ENSG00000162068	ENSG00000162068	4917	4917		Netrins	8030	protein-coding gene	gene with protein product	Netrin-3	602349	netrin 2 (chicken)-like, netrin 2-like (chicken)	NTN2L	NA	9143507, 10366627	Standard	NM_006181	NM_006181	NA	Approved		uc002cqj.3	O00634	OTTHUMG00000128867	ENST00000293973.1:c.968A>C	16.37:g.2522741A>C	ENSP00000293973:p.Asn323Thr	NA		37	CCDS10469.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.593810	0.46214	.	.	ENSG00000162068	ENST00000293973	T	0.63255	-0.03	4.52	4.52	0.55395	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	T	0.78566	0.4303	M	0.84773	2.715	0.80722	D	1	D	0.69078	0.997	D	0.66602	0.945	T	0.82220	-0.0565	10	0.87932	D	0	.	11.8131	0.52194	1.0:0.0:0.0:0.0	.	323	O00634	NET3_HUMAN	T	323	ENSP00000293973:N323T	ENSP00000293973:N323T	N	+	2	0	NTN3	2462742	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	9.086000	0.94088	1.687000	0.51057	0.254000	0.18369	AAC	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250812.1		+	ENST00000293973.1	Missense_Mutation	SNP	16 : 2522741 - 2522741 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1006	85
ADCY3	109	broad.mit.edu	37	2	25141381	25141381	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25141381A>G	ENST00000260600.5	-	1	1327	c.476T>C	c.(475-477)tTc>tCc	p.F159S		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	159					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GGCACGCGCGAAGTTCAGGCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	86	84			NA	NA	2		NA											NA				25141381		2203	4300	6503	SO:0001583	missense			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	109	109	4.6.1.1	Adenylate cyclases	234	protein-coding gene	gene with protein product		600291			NA	9920776	Standard		NM_004036	NA	Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.476T>C	2.37:g.25141381A>G	ENSP00000260600:p.Phe159Ser	NA	Q53T54|Q9UDB1	37	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	A	12.71	2.019731	0.35606	.	.	ENSG00000138031	ENST00000260600;ENST00000415879;ENST00000435135	T;T	0.81078	-1.45;-1.09	4.38	4.38	0.52667	.	0.062532	0.64402	D	0.000005	T	0.73961	0.3654	L	0.51422	1.61	0.80722	D	1	B;B	0.17852	0.024;0.024	B;B	0.17433	0.018;0.018	T	0.68599	-0.5366	10	0.21540	T	0.41	.	12.5861	0.56419	1.0:0.0:0.0:0.0	.	159;159	B7ZLX9;O60266	.;ADCY3_HUMAN	S	159;134;159	ENSP00000260600:F159S;ENSP00000389799:F159S	ENSP00000260600:F159S	F	-	2	0	ADCY3	24994885	1.000000	0.71417	0.885000	0.34714	0.655000	0.38815	6.454000	0.73493	1.842000	0.53543	0.460000	0.39030	TTC	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000211574.2		-	ENST00000260600.5	Missense_Mutation	SNP	2 : 25141381 - 25141381 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	647	169
ZNF555	148254	broad.mit.edu	37	19	2853592	2853592	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2853592G>A	ENST00000591539.1	+	4	1655	c.1526G>A	c.(1525-1527)tGc>tAc	p.C509Y	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000334241.4_Missense_Mutation_p.C510Y			Q8NEP9	ZN555_HUMAN	zinc finger protein 555	510					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		CTCTATAAATGCAAGCAGTGT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	111	114			NA	NA	19		NA											NA				2853592		2203	4300	6503	SO:0001583	missense			AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300	148254	148254		Zinc fingers, C2H2-type, -	28382	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152791	NM_152791	NA	Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000591539.1:c.1526G>A	19.37:g.2853592G>A	ENSP00000467893:p.Cys509Tyr	NA	Q8NA46|Q96MP1	37	CCDS59329.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485938	0.63962	.	.	ENSG00000186300	ENST00000334241	D	0.85088	-1.94	3.22	3.22	0.36961	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93051	0.7788	M	0.91768	3.24	0.38304	D	0.943076	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94845	0.8008	9	0.87932	D	0	.	12.2446	0.54563	0.0:0.0:1.0:0.0	.	510;509	Q8NEP9;A8KA89	ZN555_HUMAN;.	Y	510	ENSP00000334853:C510Y	ENSP00000334853:C510Y	C	+	2	0	ZNF555	2804592	1.000000	0.71417	0.018000	0.16275	0.957000	0.61999	8.594000	0.90836	1.799000	0.52666	0.561000	0.74099	TGC	ZNF555-003	NOVEL	NAGNAG_splice_site|basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452242.2		+	ENST00000591539.1	Missense_Mutation	SNP	19 : 2853592 - 2853592 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	557	82
NR3C1	2908	broad.mit.edu	37	5	142675037	142675037	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:142675037G>T	ENST00000343796.2	-	7	3004	c.2011C>A	c.(2011-2013)Ctt>Att	p.L671I	NR3C1_ENST00000503201.1_Missense_Mutation_p.L671I|NR3C1_ENST00000504572.1_Missense_Mutation_p.L672I|NR3C1_ENST00000415690.2_Missense_Mutation_p.L671I|NR3C1_ENST00000394464.2_Missense_Mutation_p.L671I|NR3C1_ENST00000416954.2_Missense_Mutation_p.L274I|NR3C1_ENST00000231509.3_Missense_Mutation_p.L672I|NR3C1_ENST00000394466.2_Missense_Mutation_p.L672I|NR3C1_ENST00000424646.2_Missense_Mutation_p.L645I	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	671	Steroid-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	GAAGAGAGAAGCAGTAAGGTT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	115	121			NA	NA	5		NA											NA				142675037		2203	4300	6503	SO:0001583	missense			X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580	2908	2908		Nuclear hormone receptors	7978	protein-coding gene	gene with protein product		138040	nuclear receptor subfamily 3, group C, member 1	GRL	NA	2867473	Standard		NM_001204258	NA	Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.2011C>A	5.37:g.142675037G>T	ENSP00000343205:p.Leu671Ile	NA	B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	37	CCDS4278.1	.	.	.	.	.	.	.	.	.	.	G	31	5.091873	0.94149	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000416954;ENST00000503201	D;D;T;D;D;D;D;D;D	0.97303	-4.33;-4.33;-0.01;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33	5.63	5.63	0.86233	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98629	0.9541	M	0.86097	2.795	0.80722	D	1	D;P;D	0.76494	0.998;0.835;0.999	D;P;D	0.97110	1.0;0.891;0.998	D	0.99513	1.0956	10	0.87932	D	0	.	19.6697	0.95907	0.0:0.0:1.0:0.0	.	671;671;672	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	I	671;671;671;645;672;672;672;274;671	ENSP00000377977:L671I;ENSP00000343205:L671I;ENSP00000387672:L671I;ENSP00000405282:L645I;ENSP00000422518:L672I;ENSP00000377979:L672I;ENSP00000231509:L672I;ENSP00000404218:L274I;ENSP00000427672:L671I	ENSP00000231509:L672I	L	-	1	0	NR3C1	142655230	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.649000	0.89929	0.585000	0.79938	CTT	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370829.1		-	ENST00000343796.2	Missense_Mutation	SNP	5 : 142675037 - 142675037 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	316	63
PRSS16	10279	broad.mit.edu	37	6	27219749	27219749	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27219749G>A	ENST00000230582.3	+	8	953	c.938G>A	c.(937-939)gGa>gAa	p.G313E	PRSS16_ENST00000377456.2_3'UTR|PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	313					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CAGCTCTGCGGACTTCTCCTC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(178;1118 2105 17078 23587 44429)							NA				0													8	9	9			NA	NA	6		NA											NA				27219749		2174	4266	6440	SO:0001583	missense			AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812	10279	10279		Serine peptidases / Serine peptidases	9480	protein-coding gene	gene with protein product		607169			NA	10527559	Standard		NM_005865	NA	Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.938G>A	6.37:g.27219749G>A	ENSP00000230582:p.Gly313Glu	NA	O75416	37	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.661647	0.47572	.	.	ENSG00000112812	ENST00000230582	T	0.12774	2.65	3.18	3.18	0.36537	.	0.841051	0.10596	N	0.656227	T	0.03178	0.0093	L	0.29908	0.895	0.35506	D	0.800225	B	0.19445	0.036	B	0.18871	0.023	T	0.26258	-1.0108	10	0.07644	T	0.81	-0.0554	10.0977	0.42486	0.0:0.0:1.0:0.0	.	313	Q9NQE7	TSSP_HUMAN	E	313	ENSP00000230582:G313E	ENSP00000230582:G313E	G	+	2	0	PRSS16	27327728	0.995000	0.38212	0.776000	0.31678	0.930000	0.56654	2.556000	0.45862	2.067000	0.61834	0.563000	0.77884	GGA	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043418.2		+	ENST00000230582.3	Missense_Mutation	SNP	6 : 27219749 - 27219749 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	87	20
DDIT4	54541	broad.mit.edu	37	10	74034579	74034579	+	Missense_Mutation	SNP	C	C	T	rs143474945	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:74034579C>T	ENST00000307365.3	+	3	533	c.332C>T	c.(331-333)tCt>tTt	p.S111F		NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	111					apoptosis					cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						CGGCTGGGCTCTCGACGCCCT	0.657		NA									OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	2	9e-04	0.0041	NA	2184	NA	0.9997	,	,	NA	4e-04	NA	NA	NA	0.001	0.8519	EXOME	NA	NA	9e-04	SNP								NA				0								C	PHE/SER	9,4397	14.3+/-33.2	0,9,2194	64	70	68		332	4	1	10	dbSNP_134	68	0,8600		0,0,4300	yes	missense	DDIT4	NM_019058.2	155	0,9,6494	TT,TC,CC	NA	0.0,0.2043,0.0692	possibly-damaging	111/233	74034579	9,12997	2203	4300	6503	SO:0001583	missense			AK000507	CCDS7315.1	10q22.1	2008-05-14			ENSG00000168209	ENSG00000168209	54541	54541			24944	protein-coding gene	gene with protein product	HIF-1 responsive RTP801	607729			NA	11884613	Standard	NM_019058	NM_019058	NA	Approved	RTP801, FLJ20500, REDD-1, REDD1, Dig2	uc001jsx.1	Q9NX09	OTTHUMG00000018435	ENST00000307365.3:c.332C>T	10.37:g.74034579C>T	ENSP00000307305:p.Ser111Phe	1149	Q9H0S3	37	CCDS7315.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	15.53	2.862093	0.51482	0.002043	0.0	ENSG00000168209	ENST00000307365	T	0.47528	0.84	4.96	4.01	0.46588	.	0.296750	0.31884	N	0.006908	T	0.44644	0.1303	L	0.34521	1.04	0.40091	D	0.976251	P	0.42409	0.779	P	0.45946	0.498	T	0.52719	-0.8538	10	0.72032	D	0.01	-11.6794	14.2728	0.66162	0.0:0.8507:0.1493:0.0	.	111	Q9NX09	DDIT4_HUMAN	F	111	ENSP00000307305:S111F	ENSP00000307305:S111F	S	+	2	0	DDIT4	73704585	0.995000	0.38212	1.000000	0.80357	0.953000	0.61014	2.756000	0.47549	2.289000	0.77006	0.462000	0.41574	TCT	DDIT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048577.1		+	ENST00000307365.3	Missense_Mutation	SNP	10 : 74034579 - 74034579 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	749	165
SLC52A1	55065	broad.mit.edu	37	17	4937215	4937215	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4937215C>T	ENST00000512825.2	-	3	1980	c.569G>A	c.(568-570)cGt>cAt	p.R190H	SLC52A1_ENST00000254853.5_Missense_Mutation_p.R190H|SLC52A1_ENST00000424747.1_Missense_Mutation_p.R190H			Q9NWF4	RFT_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	190						integral to plasma membrane	receptor activity|riboflavin transporter activity				NA						GGCAGGAAAACGCTCAGGGAA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	77	76			NA	NA	17		NA											NA				4937215		2203	4300	6503	SO:0001583	missense			AY070775	CCDS11066.1	17p13.3	2013-07-17	2013-07-17	2012-02-29	ENSG00000132517	ENSG00000132517	55065	55065		Solute carriers	30225	protein-coding gene	gene with protein product	riboflavin transporter 1	607883	G protein-coupled receptor 172B	GPR172B	NA	12740431, 18632736	Standard	NM_017986	NM_001104577	NA	Approved	FLJ10060, GPCR42, PAR2, hRFT1, RFVT1	uc002gao.4	Q9NWF4	OTTHUMG00000099448	ENST00000512825.2:c.569G>A	17.37:g.4937215C>T	ENSP00000443026:p.Arg190His	NA	B5MEV1|B5MEV2|Q6P9E0|Q86UT0	37		.	.	.	.	.	.	.	.	.	.	C	13.92	2.380302	0.42207	.	.	ENSG00000132517	ENST00000254853;ENST00000512825;ENST00000424747	T;T;T	0.76186	-1.0;-0.86;-1.0	1.13	0.1	0.14510	.	0.175899	0.47455	N	0.000228	T	0.58424	0.2121	L	0.43554	1.36	0.35362	D	0.788283	B;B	0.10296	0.003;0.001	B;B	0.09377	0.004;0.001	T	0.48790	-0.9004	10	0.37606	T	0.19	.	3.9044	0.09176	0.0:0.5347:0.0:0.4653	.	190;190	F5H5Y1;Q9NWF4	.;RFT_HUMAN	H	190	ENSP00000254853:R190H;ENSP00000443026:R190H;ENSP00000399979:R190H	ENSP00000254853:R190H	R	-	2	0	GPR172B	4877939	0.955000	0.32602	0.980000	0.43619	0.935000	0.57460	0.071000	0.14594	0.063000	0.16370	-0.254000	0.11334	CGT	SLC52A1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000438891.1		-	ENST00000512825.2	Missense_Mutation	SNP	17 : 4937215 - 4937215 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	722	99
RHOBTB3	22836	broad.mit.edu	37	5	95072759	95072759	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95072759C>T	ENST00000379982.3	+	3	903	c.395C>T	c.(394-396)gCt>gTt	p.A132V		NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	132	Rho-like.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		ATTATTGCTGCTGTTGGTACC	0.269		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	75	74			NA	NA	5		NA											NA				95072759		2203	4299	6502	SO:0001583	missense			AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292	22836	22836		BTB/POZ domain containing	18757	protein-coding gene	gene with protein product		607353			NA	11222756, 17035353	Standard	NM_014899	NM_014899	NA	Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.395C>T	5.37:g.95072759C>T	ENSP00000369318:p.Ala132Val	NA	A0PJA4|A8K1W9|Q8IW06	37	CCDS4077.1	.	.	.	.	.	.	.	.	.	.	C	32	5.151418	0.94645	.	.	ENSG00000164292	ENST00000506959;ENST00000379982	T;T	0.71461	-0.57;-0.57	6.0	6.0	0.97389	.	0.000000	0.85682	D	0.000000	D	0.84325	0.5447	M	0.76574	2.34	0.80722	D	1	D	0.69078	0.997	D	0.67725	0.953	D	0.84314	0.0512	10	0.62326	D	0.03	-17.047	20.1013	0.97878	0.0:1.0:0.0:0.0	.	132	O94955	RHBT3_HUMAN	V	138;132	ENSP00000423688:A138V;ENSP00000369318:A132V	ENSP00000369318:A132V	A	+	2	0	RHOBTB3	95098515	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.757000	0.68766	2.841000	0.97950	0.637000	0.83480	GCT	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000241658.1		+	ENST00000379982.3	Missense_Mutation	SNP	5 : 95072759 - 95072759 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	387	63
PCNXL2	80003	broad.mit.edu	37	1	233136192	233136192	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233136192G>A	ENST00000258229.9	-	30	5421	c.5187C>T	c.(5185-5187)caC>caT	p.H1729H	PCNXL2_ENST00000344698.2_Silent_p.H381H	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	NA						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GGTCGCCCTCGTGGCAGATGA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4069		0,1,2034	63	65	64		5187	-4.8	0.9	1		64	0,8344		0,0,4172	no	coding-synonymous	PCNXL2	NM_014801.3		0,1,6206	AA,AG,GG	NA	0.0,0.0246,0.0081		1729/2138	233136192	1,12413	2035	4172	6207	SO:0001819	synonymous_variant			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749	80003	80003			8736	protein-coding gene	gene with protein product			pecanex (Drosophila)-like 2		NA	12477932	Standard	NM_014801	NM_014801	NA	Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.5187C>T	1.37:g.233136192G>A		NA	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	37	CCDS44335.1																																																																																			PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092480.3		-	ENST00000258229.9	Silent	SNP	1 : 233136192 - 233136192 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	341	54
TECPR1	25851	broad.mit.edu	37	7	97872882	97872882	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97872882T>C	ENST00000447648.2	-	6	853	c.554A>G	c.(553-555)aAg>aGg	p.K185R	TECPR1_ENST00000379795.3_Missense_Mutation_p.K185R|TECPR1_ENST00000542604.1_Missense_Mutation_p.K106R			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	185						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGGCAGCTCCTTGGGGTCATC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	53	50			NA	NA	7		NA											NA				97872882		2038	4196	6234	SO:0001583	missense				CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356	25851	25851			22214	protein-coding gene	gene with protein product		614781			NA		Standard	NM_015395	NM_015395	NA	Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.554A>G	7.37:g.97872882T>C	ENSP00000404923:p.Lys185Arg	NA	A8KAD1|Q96EB0|Q9P2I9|Q9UFR6	37	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	T	12.58	1.979333	0.34942	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.30714	1.52;1.52;1.52	5.27	5.27	0.74061	.	0.526566	0.22848	N	0.054895	T	0.20047	0.0482	N	0.19112	0.55	0.25899	N	0.983377	B;B	0.13145	0.007;0.001	B;B	0.14023	0.01;0.002	T	0.12553	-1.0543	10	0.12430	T	0.62	-23.8156	14.4017	0.67050	0.0:0.0:0.0:1.0	.	106;185	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	R	185;185;106	ENSP00000404923:K185R;ENSP00000369121:K185R;ENSP00000441121:K106R	ENSP00000369121:K185R	K	-	2	0	TECPR1	97710818	0.375000	0.25089	0.980000	0.43619	0.924000	0.55760	1.915000	0.39976	2.001000	0.58596	0.533000	0.62120	AAG	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334661.1		-	ENST00000447648.2	Missense_Mutation	SNP	7 : 97872882 - 97872882 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	267	12
CACNA1G	8913	broad.mit.edu	37	17	48692758	48692758	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48692758G>A	ENST00000352832.5	+	25	5066	c.4694G>A	c.(4693-4695)cGc>cAc	p.R1565H	CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1588H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1565H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1588H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1565H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1576H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1547H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1581H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1606H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1581H|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1565H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1588H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1599H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1542H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1599H|CACNA1G_ENST00000359106.5_Missense_Mutation_p.R1599H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1565H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1576H|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1558H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1554H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1554H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1599H|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1581H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1588H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1599H	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1599					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GACTACTCCCGCTTCCGGCTC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	64	63			NA	NA	17		NA											NA				48692758		2036	4192	6228	SO:0001583	missense			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283	8913	8913		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1394	protein-coding gene	gene with protein product		604065			NA	9495342, 16382099	Standard	NM_018896	NM_001256334	NA	Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000352832.5:c.4694G>A	17.37:g.48692758G>A	ENSP00000339302:p.Arg1565His	NA	O43498|O94770|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	37	CCDS45735.1	.	.	.	.	.	.	.	.	.	.	g	10.88	1.476722	0.26511	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97016	-4.05;-4.05;-4.0;-4.06;-4.05;-4.08;-4.2;-4.18;-4.16;-4.21;-4.03;-4.02;-4.15;-4.04;-4.01;-4.08;-4.06;-4.03;-4.1;-4.05;-4.02;-4.09;-4.03;-4.08;-4.08	4.75	4.75	0.60458	.	0.126247	0.48767	D	0.000168	D	0.95758	0.8620	N	0.26162	0.8	0.35461	D	0.796521	D;B;D;D;D;D;D;B;D;B;B;B;B;B;D;B;P;B;B;B;D;B;B;B;B	0.89917	0.998;0.013;0.998;0.999;0.999;1.0;1.0;0.074;1.0;0.016;0.061;0.027;0.018;0.061;1.0;0.016;0.496;0.063;0.131;0.027;0.999;0.007;0.128;0.016;0.006	D;B;P;D;D;P;D;B;D;B;B;B;B;B;P;B;B;B;B;B;D;B;B;B;B	0.80764	0.976;0.006;0.834;0.994;0.932;0.904;0.992;0.023;0.992;0.003;0.011;0.013;0.006;0.011;0.904;0.006;0.034;0.013;0.023;0.014;0.984;0.006;0.018;0.006;0.002	D	0.96457	0.9338	10	0.39692	T	0.17	.	11.288	0.49232	0.0848:0.0:0.9152:0.0	.	1542;1554;1547;1581;1554;1581;1606;1565;1599;1588;1599;1576;1588;1588;1581;1588;1599;1576;1599;1565;1558;1565;1576;1599;1565	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	H	1576;1565;1565;1558;1576;1588;1554;1542;1547;1565;1599;1588;1554;1599;1565;1599;1581;1588;1606;1565;1599;1581;1581;1599;1588	ENSP00000353990:R1576H;ENSP00000339302:R1565H;ENSP00000347078:R1565H;ENSP00000409759:R1558H;ENSP00000425522:R1576H;ENSP00000426261:R1588H;ENSP00000425451:R1554H;ENSP00000422407:R1542H;ENSP00000426814:R1547H;ENSP00000427238:R1565H;ENSP00000423112:R1599H;ENSP00000420918:R1588H;ENSP00000426172:R1554H;ENSP00000423045:R1599H;ENSP00000427173:R1565H;ENSP00000426098:R1599H;ENSP00000425698:R1581H;ENSP00000426232:R1588H;ENSP00000423317:R1606H;ENSP00000350979:R1565H;ENSP00000352011:R1599H;ENSP00000414388:R1581H;ENSP00000423155:R1581H;ENSP00000422268:R1599H;ENSP00000421518:R1588H	ENSP00000339302:R1565H	R	+	2	0	CACNA1G	46047757	0.031000	0.19500	1.000000	0.80357	0.982000	0.71751	1.308000	0.33528	2.170000	0.68504	0.462000	0.41574	CGC	CACNA1G-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367893.2		+	ENST00000352832.5	Missense_Mutation	SNP	17 : 48692758 - 48692758 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	245	54
SLC37A2	219855	broad.mit.edu	37	11	124951718	124951718	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124951718C>T	ENST00000403796.2	+	9	1102	c.801C>T	c.(799-801)agC>agT	p.S267S	SLC37A2_ENST00000407458.1_Silent_p.S267S|SLC37A2_ENST00000308074.4_Silent_p.S267S|SLC37A2_ENST00000298280.5_Silent_p.S267S	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	267					carbohydrate transport|transmembrane transport	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		TCAGGGAGAGCGGCCTTGAGA	0.597		NA											C	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	0.0028	SNP	Melanoma(11;373 620 21213 26083 47768)							NA				0													68	65	66			NA	NA	11		NA											NA				124951718		2201	4299	6500	SO:0001819	synonymous_variant			AK074100	CCDS31714.1, CCDS44757.1	11q24.2	2013-07-17	2013-07-17		ENSG00000134955	ENSG00000134955	219855	219855		Solute carriers	20644	protein-coding gene	gene with protein product			solute carrier family 37 (glycerol-3-phosphate transporter), member 2		NA		Standard	XM_166184	NM_198277	NA	Approved	FLJ00171	uc010sau.2	Q8TED4	OTTHUMG00000165879	ENST00000403796.2:c.801C>T	11.37:g.124951718C>T		NA	A8K2P9|Q6P599|Q7Z7P8|Q8TEM2	37	CCDS44757.1																																																																																			SLC37A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386837.1		+	ENST00000403796.2	Silent	SNP	11 : 124951718 - 124951718 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	249	44
ZMYND8	23613	broad.mit.edu	37	20	45874915	45874915	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45874915C>A	ENST00000458360.2	-	14	2095	c.2046G>T	c.(2044-2046)aaG>aaT	p.K682N	ZMYND8_ENST00000311275.7_Missense_Mutation_p.K687N|ZMYND8_ENST00000471951.2_Missense_Mutation_p.K707N|ZMYND8_ENST00000446994.2_Missense_Mutation_p.K624N|ZMYND8_ENST00000461685.1_Missense_Mutation_p.K707N|ZMYND8_ENST00000540497.1_Missense_Mutation_p.K635N|ZMYND8_ENST00000372023.3_Missense_Mutation_p.K682N|ZMYND8_ENST00000262975.4_Missense_Mutation_p.K687N|ZMYND8_ENST00000360911.3_Missense_Mutation_p.K682N|ZMYND8_ENST00000396281.4_Missense_Mutation_p.K687N|ZMYND8_ENST00000536340.1_Missense_Mutation_p.K714N|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000355972.4_Missense_Mutation_p.K687N|ZMYND8_ENST00000352431.2_Missense_Mutation_p.K707N	NM_001281771.1	NP_001268700.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	800							protein binding|zinc ion binding	p.K707N(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TCAGTTTATCCTTTATGGGGT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											201	183	189			NA	NA	20		NA											NA				45874915		2203	4300	6503	SO:0001583	missense			U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040	23613	23613		Zinc fingers, MYND-type, Zinc fingers, PHD-type	9397	protein-coding gene	gene with protein product		615713	protein kinase C binding protein 1	PRKCBP1	NA		Standard	NM_183047	NM_001281769	NA	Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000458360.2:c.2046G>T	20.37:g.45874915C>A	ENSP00000392964:p.Lys682Asn	NA	B7Z680|E1P5U5|Q13517|Q2HXV2|Q2HXV8|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.84|13.84	2.358130|2.358130	0.41801|0.41801	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000467200|ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	.|T;T;T;T;T;T;T;T;T;T;T	.|0.56275	.|0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47	5.91|5.91	2.53|2.53	0.30540|0.30540	.|.	.|0.227351	.|0.44097	.|D	.|0.000491	.|T	.|0.54598	.|0.1868	M|M	0.69823|0.69823	2.125|2.125	0.40769|0.40769	D|D	0.98307|0.98307	.|P;P;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	.|0.47302	.|0.893;0.609;0.159;0.078;0.134;0.276;0.38;0.127;0.21;0.127;0.127;0.078;0.078;0.078;0.078;0.277;0.06;0.159	.|B;B;B;B;B;B;P;B;B;B;B;B;B;B;B;B;B;B	.|0.46172	.|0.276;0.258;0.131;0.091;0.103;0.199;0.506;0.258;0.208;0.258;0.258;0.131;0.131;0.131;0.131;0.109;0.047;0.131	.|T	.|0.57106	.|-0.7868	.|10	.|0.34782	.|T	.|0.22	-17.7768|-17.7768	11.8262|11.8262	0.52269|0.52269	0.0:0.7249:0.0:0.2751|0.0:0.7249:0.0:0.2751	.|.	.|682;714;682;682;662;681;707;687;682;707;707;687;624;682;635;707;635;687	.|B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5TH11;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.|.;.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	X|N	615|682;687;682;688;708;707;687;714;687;624;707;682;635	.|ENSP00000354166:K682N;ENSP00000312237:K687N;ENSP00000392964:K682N;ENSP00000335537:K707N;ENSP00000379577:K687N;ENSP00000439800:K714N;ENSP00000348246:K687N;ENSP00000396725:K624N;ENSP00000418210:K707N;ENSP00000361093:K682N;ENSP00000443086:K635N	.|ENSP00000262975:K688N	G|K	-|-	1|3	0|2	ZMYND8|ZMYND8	45308322|45308322	0.994000|0.994000	0.37717|0.37717	0.993000|0.993000	0.49108|0.49108	0.888000|0.888000	0.51559|0.51559	0.368000|0.368000	0.20399|0.20399	0.842000|0.842000	0.35045|0.35045	-0.137000|-0.137000	0.14449|0.14449	GGA|AAG	ZMYND8-011	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000354388.1		-	ENST00000458360.2	Missense_Mutation	SNP	20 : 45874915 - 45874915 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	865	74
SWAP70	23075	broad.mit.edu	37	11	9761736	9761736	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9761736G>T	ENST00000318950.6	+	9	1300	c.1197G>T	c.(1195-1197)caG>caT	p.Q399H	SWAP70_ENST00000447399.2_Missense_Mutation_p.Q341H	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	399						cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		AGATCAGACAGCAGATGGAAG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	69	70			NA	NA	11		NA											NA				9761736		2201	4294	6495	SO:0001583	missense			AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789	23075	23075		Pleckstrin homology (PH) domain containing, EF-hand domain containing	17070	protein-coding gene	gene with protein product		604762			NA	9734811, 10681448	Standard	NM_015055	XM_005252829	NA	Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.1197G>T	11.37:g.9761736G>T	ENSP00000315630:p.Gln399His	NA	D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	37	CCDS31426.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494561	0.64186	.	.	ENSG00000133789	ENST00000447399;ENST00000318950	T;T	0.20200	2.09;2.09	5.25	4.28	0.50868	.	0.189996	0.48286	D	0.000184	T	0.15825	0.0381	N	0.24115	0.695	0.51482	D	0.99992	P;P;P	0.50943	0.94;0.612;0.641	P;B;B	0.44732	0.459;0.172;0.259	T	0.01007	-1.1483	10	0.46703	T	0.11	-16.3576	9.916	0.41434	0.074:0.0:0.7874:0.1386	.	341;399;341	E7EMB1;Q9UH65;B3KUB9	.;SWP70_HUMAN;.	H	341;399	ENSP00000399056:Q341H;ENSP00000315630:Q399H	ENSP00000315630:Q399H	Q	+	3	2	SWAP70	9718312	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.051000	0.49885	2.445000	0.82738	0.591000	0.81541	CAG	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386766.2		+	ENST00000318950.6	Missense_Mutation	SNP	11 : 9761736 - 9761736 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	228	43
HVCN1	84329	broad.mit.edu	37	12	111078889	111078889	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111078889G>A	ENST00000548312.1	-	7	965				TCTN1_ENST00000377654.3_Missense_Mutation_p.V169I|TCTN1_ENST00000397655.3_Missense_Mutation_p.V333I|TCTN1_ENST00000551590.1_Missense_Mutation_p.V347I|TCTN1_ENST00000397659.4_Missense_Mutation_p.V347I			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	NA					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						TCTCTCATTCGTTCTGGGGAC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	156	158			NA	NA	12		NA											NA				111078889		1957	4144	6101	SO:0001627	intron_variant			BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986	84329	84329		Voltage-gated ion channels / Hydrogen voltage-gated channel	28240	protein-coding gene	gene with protein product	voltage sensor domain-only protein	611227			NA	20961760, 16556803, 18356202, 22020278	Standard	NM_032369	NM_032369	NA	Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000548312.1:c.756+9083C>T	12.37:g.111078889G>A		NA	A8MQ37|Q6UW11|Q96IS5	37		.	.	.	.	.	.	.	.	.	.	C	20.4	3.989356	0.74589	.	.	ENSG00000204852	ENST00000397650;ENST00000551590;ENST00000397655;ENST00000377654;ENST00000397657;ENST00000397659;ENST00000397652	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	5.87	3.98	0.46160	Domain of unknown function DUF1619 (1);	0.346611	0.30483	N	0.009533	T	0.72692	0.3492	N	0.25890	0.77	0.09310	N	1	B;B;B;B;B	0.29862	0.259;0.097;0.097;0.226;0.118	B;B;B;B;B	0.29524	0.103;0.02;0.02;0.047;0.034	T	0.56300	-0.8002	10	0.26408	T	0.33	-17.4742	13.4685	0.61270	0.1086:0.3326:0.5588:0.0	.	347;333;347;287;291	Q2MV58;Q2MV58-3;Q2MV58-2;C9J1H5;C9J1H4	TECT1_HUMAN;.;.;.;.	I	287;347;333;169;169;347;291	ENSP00000448735:V347I;ENSP00000380775:V333I;ENSP00000366882:V169I;ENSP00000380779:V347I	ENSP00000366882:V169I	V	+	1	0	TCTN1	109563272	0.990000	0.36364	0.067000	0.19924	0.311000	0.27955	1.586000	0.36611	0.358000	0.24211	-0.120000	0.15030	GTT	HVCN1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000404651.1		-	ENST00000548312.1	Intron	SNP	12 : 111078889 - 111078889 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	629	133
KIF15	56992	broad.mit.edu	37	3	44867540	44867540	+	Silent	SNP	C	C	T	rs146760782		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44867540C>T	ENST00000326047.4	+	21	2708	c.2559C>T	c.(2557-2559)aaC>aaT	p.N853N	KIF15_ENST00000425755.1_Silent_p.N488N	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	853					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GGTTAGAAAACGAAAAGCTGC	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4404		0,0,2202	48	54	52		2559	0.4	1	3	dbSNP_134	52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KIF15	NM_020242.2		0,1,6501	TT,TC,CC	NA	0.0116,0.0,0.0077		853/1389	44867540	1,13003	2202	4300	6502	SO:0001819	synonymous_variant			AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808	56992	56992		Kinesins	17273	protein-coding gene	gene with protein product			kinesin-like 7	KNSL7	NA	10878014	Standard		NM_020242	NA	Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.2559C>T	3.37:g.44867540C>T		NA	Q17RV9|Q69YL6|Q96JX7|Q9H280	37	CCDS33744.1																																																																																			KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343831.2		+	ENST00000326047.4	Silent	SNP	3 : 44867540 - 44867540 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	38
SMARCA1	6594	broad.mit.edu	37	X	128582342	128582342	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:128582342C>A	ENST00000371122.4	-	24	3238	c.3109G>T	c.(3109-3111)Gaa>Taa	p.E1037*	SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.E1025*|SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.E1025*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	1037					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TTCTTCTTTTCTGCTCTCTCT	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	134	138			NA	NA	X		NA											NA				128582342		2203	4297	6500	SO:0001587	stop_gained			M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038	6594	6594			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L	NA	1408766, 14609955	Standard	NM_003069	XM_005262461	NA	Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.3109G>T	X.37:g.128582342C>A	ENSP00000360163:p.Glu1037*	NA	Q5JV41|Q5JV42	37	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	C	39	7.403897	0.98262	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122	.	.	.	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-21.9902	19.3889	0.94570	0.0:1.0:0.0:0.0	.	.	.	.	X	1025;1025;1037	.	ENSP00000360162:E1025X	E	-	1	0	SMARCA1	128410023	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.177000	0.71961	2.618000	0.88619	0.600000	0.82982	GAA	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058206.1		-	ENST00000371122.4	Nonsense_Mutation	SNP	X : 128582342 - 128582342 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	275	85
TNFRSF1B	7133	broad.mit.edu	37	1	12251090	12251090	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12251090G>T	ENST00000376259.3	+	3	344	c.255G>T	c.(253-255)caG>caT	p.Q85H	TNFRSF1B_ENST00000536782.1_Missense_Mutation_p.Q85H|TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	85					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	CATACACCCAGCTCTGGAACT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	147	147			NA	NA	1		NA											NA				12251090		2203	4300	6503	SO:0001583	missense			M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137	7133	7133		Tumor necrosis factor receptor superfamily, CD molecules	11917	protein-coding gene	gene with protein product		191191		TNFR2	NA	2158863, 8702885	Standard	NM_001066	NM_001066	NA	Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.255G>T	1.37:g.12251090G>T	ENSP00000365435:p.Gln85His	NA	B1AJZ3|Q16042|Q6YI29|Q9UIH1	37	CCDS145.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074733	0.36566	.	.	ENSG00000028137	ENST00000376259;ENST00000400863;ENST00000536782	D;D	0.90788	-2.73;-2.73	4.1	4.1	0.47936	TNFR/CD27/30/40/95 cysteine-rich region (4);	0.459943	0.22611	N	0.057824	D	0.88588	0.6477	L	0.47716	1.5	0.09310	N	0.999991	D	0.57571	0.98	P	0.47346	0.544	T	0.82744	-0.0306	10	0.54805	T	0.06	-3.5724	12.0529	0.53518	0.0:0.0:1.0:0.0	.	85	P20333	TNR1B_HUMAN	H	85	ENSP00000365435:Q85H;ENSP00000440425:Q85H	ENSP00000365435:Q85H	Q	+	3	2	TNFRSF1B	12173677	0.713000	0.27926	0.452000	0.26994	0.212000	0.24457	1.180000	0.32005	2.312000	0.78011	0.655000	0.94253	CAG	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005133.1		+	ENST00000376259.3	Missense_Mutation	SNP	1 : 12251090 - 12251090 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	969	81
SPSB3	90864	broad.mit.edu	37	16	1827164	1827164	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1827164C>T	ENST00000566339.1	-	7	1332	c.1002G>A	c.(1000-1002)gcG>gcA	p.A334A	SPSB3_ENST00000301717.4_Silent_p.A334A	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	334					intracellular signal transduction					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						GGGCGGAGGTCGCTGCCTGGG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	37	37			NA	NA	16		NA											NA				1827164		2197	4291	6488	SO:0001819	synonymous_variant				CCDS32365.1	16p13.3	2008-02-05				ENSG00000162032	90864	90864			30629	protein-coding gene	gene with protein product		611659	chromosome 16 open reading frame 31	C16orf31	NA	12076535	Standard	NM_080861	NM_080861	NA	Approved	SSB-3	uc002cmu.3	Q6PJ21		ENST00000566339.1:c.1002G>A	16.37:g.1827164C>T		NA	D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	37	CCDS32365.1																																																																																			SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000433512.1		-	ENST00000566339.1	Silent	SNP	16 : 1827164 - 1827164 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	475	37
FREM2	341640	broad.mit.edu	37	13	39264866	39264866	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39264866G>A	ENST00000280481.7	+	1	3601	c.3385G>A	c.(3385-3387)Gca>Aca	p.A1129T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1129					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GAAATCAAGAGCAGGGATTGC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	63	63			NA	NA	13		NA											NA				39264866		2203	4300	6503	SO:0001583	missense			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893	341640	341640			25396	protein-coding gene	gene with protein product		608945			NA	15345741	Standard	NM_207361	NM_207361	NA	Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.3385G>A	13.37:g.39264866G>A	ENSP00000280481:p.Ala1129Thr	NA	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.621270	0.46736	.	.	ENSG00000150893	ENST00000280481	T	0.37584	1.19	6.07	5.23	0.72850	.	0.104847	0.64402	N	0.000003	T	0.48077	0.1480	M	0.64997	1.995	0.58432	D	0.999998	P	0.52316	0.952	P	0.52598	0.703	T	0.41645	-0.9497	10	0.31617	T	0.26	.	15.2394	0.73455	0.0668:0.0:0.9332:0.0	.	1129	Q5SZK8	FREM2_HUMAN	T	1129	ENSP00000280481:A1129T	ENSP00000280481:A1129T	A	+	1	0	FREM2	38162866	0.982000	0.34865	1.000000	0.80357	0.961000	0.63080	1.718000	0.38001	1.588000	0.49971	0.650000	0.86243	GCA	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044599.2		+	ENST00000280481.7	Missense_Mutation	SNP	13 : 39264866 - 39264866 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	293	28
PAPPA	5069	broad.mit.edu	37	9	118950319	118950319	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:118950319C>T	ENST00000328252.3	+	2	1671	c.1302C>T	c.(1300-1302)ggC>ggT	p.G434G		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	434	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CGCTGACGGGCCACGACGGCG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	52	56			NA	NA	9		NA											NA				118950319		2203	4300	6503	SO:0001819	synonymous_variant				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752	5069	5069			8602	protein-coding gene	gene with protein product	insulin-like growth factor-dependent IGF binding protein-4 protease, aspecific BCL2 ARE-binding protein 2, differentially placenta 1 expressed protein	176385			NA	7679961	Standard	NM_002581	NM_002581	NA	Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1302C>T	9.37:g.118950319C>T		NA	B1AMF9|Q08371|Q68G52|Q9UDK7	37	CCDS6813.1																																																																																			PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055546.1		+	ENST00000328252.3	Silent	SNP	9 : 118950319 - 118950319 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	280	38
ZNF835	90485	broad.mit.edu	37	19	57175789	57175789	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57175789G>A	ENST00000537055.2	-	2	1009	c.778C>T	c.(778-780)Cgc>Tgc	p.R260C		NM_001005850.2	NP_001005850.2			zinc finger protein 835	NA										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GAGGAGAAGCGGAAGGCCTTG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	37	37			NA	NA	19		NA											NA				57175789		2203	4300	6503	SO:0001583	missense			AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903	90485	90485		Zinc fingers, C2H2-type	34332	protein-coding gene	gene with protein product					NA		Standard	NM_001005850	NM_001005850	NA	Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.778C>T	19.37:g.57175789G>A	ENSP00000444747:p.Arg260Cys	NA		37	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660667	0.47572	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.08282	3.11	2.12	-0.363	0.12556	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08403	0.0209	M	0.64997	1.995	0.29926	N	0.82233	P	0.37731	0.607	B	0.36378	0.223	T	0.20571	-1.0271	9	0.66056	D	0.02	.	2.9806	0.05952	0.1528:0.0:0.3618:0.4854	.	282	Q9Y2P0	ZN835_HUMAN	C	282;260	ENSP00000444747:R260C	ENSP00000341756:R282C	R	-	1	0	ZNF835	61867601	0.000000	0.05858	0.912000	0.35992	0.871000	0.50021	-2.109000	0.01335	-0.001000	0.14495	0.561000	0.74099	CGC	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459800.1		-	ENST00000537055.2	Missense_Mutation	SNP	19 : 57175789 - 57175789 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	154	25
CDH11	1009	broad.mit.edu	37	16	65005935	65005935	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:65005935C>T	ENST00000394156.3	-	10	1876	c.1423G>A	c.(1423-1425)Gcc>Acc	p.A475T	CDH11_ENST00000268603.4_Missense_Mutation_p.A475T|CDH11_ENST00000566827.1_Missense_Mutation_p.A349T			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	475	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		ACCCTAATGGCCACTGGGACT	0.473		NA	T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		16	16q22.1	1009	cadherin 11, type 2, OB-cadherin (osteoblast)		M	0													105	91	96			NA	NA	16		NA											NA				65005935		2203	4300	6503	SO:0001583	missense			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937	1009	1009		Cadherins / Major cadherins	1750	protein-coding gene	gene with protein product	OB-Cadherin	600023			NA	9615235	Standard	NM_033664	NM_001797	NA	Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000394156.3:c.1423G>A	16.37:g.65005935C>T	ENSP00000377711:p.Ala475Thr	NA	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	37		.	.	.	.	.	.	.	.	.	.	C	12.27	1.887812	0.33348	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.02682	4.2;4.2	5.91	4.95	0.65309	Cadherin (5);Cadherin-like (1);	0.325201	0.36628	N	0.002483	T	0.02380	0.0073	N	0.11673	0.155	0.42665	D	0.99349	B;B	0.23128	0.063;0.08	B;B	0.26864	0.055;0.074	T	0.58584	-0.7611	10	0.22706	T	0.39	.	15.5412	0.76048	0.139:0.8609:0.0:0.0	.	475;475	P55287-2;P55287	.;CAD11_HUMAN	T	475;475;458	ENSP00000268603:A475T;ENSP00000377711:A475T	ENSP00000268603:A475T	A	-	1	0	CDH11	63563436	0.734000	0.28142	1.000000	0.80357	0.992000	0.81027	0.589000	0.23939	1.484000	0.48361	0.655000	0.94253	GCC	CDH11-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000268756.1		-	ENST00000394156.3	Missense_Mutation	SNP	16 : 65005935 - 65005935 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	254	32
TRPM5	29850	broad.mit.edu	37	11	2436266	2436266	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2436266C>T	ENST00000155858.6	-	10	1499	c.1491G>A	c.(1489-1491)ccG>ccA	p.P497P	TRPM5_ENST00000528453.1_Silent_p.P497P|TRPM5_ENST00000452833.1_Silent_p.P499P|TRPM5_ENST00000533060.1_Silent_p.P497P	NM_014555.3	NP_055370.1	Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	497						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCCGCTTGGCCGGGCCCTTCT	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(1;49 61 17205 18850 43201)							NA				0								C		2,4328		0,2,2163	17	22	20		1491	-7.3	0	11		20	0,8520		0,0,4260	no	coding-synonymous	TRPM5	NM_014555.3		0,2,6423	TT,TC,CC	NA	0.0,0.0462,0.0156		497/1166	2436266	2,12848	2165	4260	6425	SO:0001819	synonymous_variant			AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985	29850	29850		Voltage-gated ion channels / Transient receptor potential cation channels	14323	protein-coding gene	gene with protein product		604600			NA	10607831, 16382100	Standard	NM_014555	NM_014555	NA	Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.1491G>A	11.37:g.2436266C>T		NA	A6NHS0|Q52LU2|Q9NY34	37	CCDS31340.1																																																																																			TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000027378.1		-	ENST00000155858.6	Silent	SNP	11 : 2436266 - 2436266 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	194	19
LAMB2	3913	broad.mit.edu	37	3	49168875	49168875	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49168875C>T	ENST00000418109.1	-	7	813	c.649G>A	c.(649-651)Gtc>Atc	p.V217I	LAMB2_ENST00000305544.4_Splice_Site_p.V217I	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	217	Laminin N-terminal.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGATAGATGACCTGGAGAAGC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	116	118			NA	NA	3		NA											NA				49168875		2203	4300	6503	SO:0001630	splice_region_variant				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037	3913	3913		Laminins	6487	protein-coding gene	gene with protein product	laminin S	150325		LAMS	NA	2922051, 10393422	Standard	NM_002292	NM_002292	NA	Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.649-1G>A	3.37:g.49168875C>T		NA	Q16321	37	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	c	22.7	4.326127	0.81580	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000494831	T;T;T	0.76709	-1.04;-1.04;-1.04	4.88	4.88	0.63580	Laminin, N-terminal (3);	0.066361	0.64402	D	0.000017	D	0.82618	0.5076	L	0.49640	1.575	0.58432	D	0.999998	D	0.59357	0.985	P	0.60345	0.873	T	0.79065	-0.1956	10	0.23302	T	0.38	.	17.8259	0.88665	0.0:1.0:0.0:0.0	.	217	P55268	LAMB2_HUMAN	I	217;217;68	ENSP00000388325:V217I;ENSP00000307156:V217I;ENSP00000444751:V68I	ENSP00000307156:V217I	V	-	1	0	LAMB2	49143879	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	5.858000	0.69532	2.541000	0.85698	0.651000	0.88453	GTC	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345939.1	Missense_Mutation	-	ENST00000418109.1	Splice_Site	SNP	3 : 49168875 - 49168875 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	537	21
RBM33	155435	broad.mit.edu	37	7	155556568	155556568	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:155556568G>A	ENST00000401878.3	+	15	3240	c.3042G>A	c.(3040-3042)ccG>ccA	p.P1014P	RBM33_ENST00000341148.3_5'UTR	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	1014							nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CCCAGCCTCCGGAAGTGGGAC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	17	16			NA	NA	7		NA											NA				155556568		1985	4168	6153	SO:0001819	synonymous_variant			AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863	155435	155435		RNA binding motif (RRM) containing	27223	protein-coding gene	gene with protein product			proline rich 8	PRR8	NA		Standard	NM_001008408	NM_053043	NA	Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.3042G>A	7.37:g.155556568G>A		NA	A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	37	CCDS5941.2	.	.	.	.	.	.	.	.	.	.	A	2.515	-0.312011	0.05422	.	.	ENSG00000184863	ENST00000392761	.	.	.	5.91	-3.05	0.05396	.	.	.	.	.	T	0.65984	0.2744	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62416	-0.6859	4	.	.	.	.	15.7905	0.78357	0.4084:0.0:0.5916:0.0	.	.	.	.	Q	787	.	.	R	+	2	0	RBM33	155249329	0.571000	0.26659	0.106000	0.21319	0.233000	0.25261	-0.089000	0.11180	-1.219000	0.02597	-0.982000	0.02568	CGG	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317225.3		+	ENST00000401878.3	Silent	SNP	7 : 155556568 - 155556568 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	104	19
SYNCRIP	10492	broad.mit.edu	37	6	86346734	86346734	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:86346734G>A	ENST00000355238.6	-	6	823	c.617C>T	c.(616-618)gCg>gTg	p.A206V	SYNCRIP_ENST00000369622.3_Missense_Mutation_p.A206V	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	206	RRM 1.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		AGTGACAAACGCATAACCTCT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	82	83			NA	NA	6		NA											NA				86346734		2203	4300	6503	SO:0001583	missense			AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316	10492	10492		RNA binding motif (RRM) containing	16918	protein-coding gene	gene with protein product	heterogeneous nuclear ribonucleoprotein Q				NA	9847309, 11352648	Standard	NM_006372	NM_006372	NA	Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000355238.6:c.617C>T	6.37:g.86346734G>A	ENSP00000347380:p.Ala206Val	NA	E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	37	CCDS55041.1	.	.	.	.	.	.	.	.	.	.	G	36	5.621423	0.96660	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	T;T	0.61742	0.41;0.08	5.76	5.76	0.90799	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.83004	0.5160	H	0.95982	3.75	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.953;0.969;0.998;0.994;0.998;0.999	D	0.87738	0.2583	10	0.87932	D	0	.	19.5693	0.95406	0.0:0.0:1.0:0.0	.	206;206;108;54;206;206;206	O60506;O60506-2;B7Z645;O60506-5;O60506-4;O60506-3;B2R8Z8	HNRPQ_HUMAN;.;.;.;.;.;.	V	206	ENSP00000347380:A206V;ENSP00000358635:A206V	ENSP00000347380:A206V	A	-	2	0	SYNCRIP	86403453	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.724000	0.93272	0.650000	0.86243	GCG	SYNCRIP-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041397.1		-	ENST00000355238.6	Missense_Mutation	SNP	6 : 86346734 - 86346734 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	504	25
NTRK3	4916	broad.mit.edu	37	15	88799241	88799241	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:88799241C>T	ENST00000394480.2	-	3	465	c.144G>A	c.(142-144)ccG>ccA	p.P48P	NTRK3-AS1_ENST00000569588.1_lincRNA|NTRK3_ENST00000558676.1_Silent_p.P48P|NTRK3_ENST00000357724.2_Silent_p.P48P|NTRK3_ENST00000557856.1_Silent_p.P48P|NTRK3_ENST00000355254.2_Silent_p.P48P|NTRK3_ENST00000360948.2_Silent_p.P48P|NTRK3_ENST00000540489.2_Silent_p.P48P|NTRK3_ENST00000317501.3_Silent_p.P48P	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	NA					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCCCATCGTCCGGCCGCCGGC	0.547		NA	T	ETV6	congenital fibrosarcoma, Secretory breast 					TSP Lung(13;0.10)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		15	15q25	4916	neurotrophic tyrosine kinase, receptor, type 3		E, M	0													268	220	237			NA	NA	15		NA											NA				88799241		2201	4299	6500	SO:0001819	synonymous_variant			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	4916	4916	2.7.10.1	Immunoglobulin superfamily / I-set domain containing	8033	protein-coding gene	gene with protein product		191316			NA	7806211	Standard		NM_001012338	NA	Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000394480.2:c.144G>A	15.37:g.88799241C>T		NA	O75682|Q12827|Q16289	37	CCDS10340.1																																																																																			NTRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000309066.2		-	ENST00000394480.2	Silent	SNP	15 : 88799241 - 88799241 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	548	82
NCAPD2	9918	broad.mit.edu	37	12	6626806	6626806	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6626806G>T	ENST00000315579.5	+	12	2164	c.1365G>T	c.(1363-1365)caG>caT	p.Q455H	NCAPD2_ENST00000545962.1_Missense_Mutation_p.Q410H	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	455	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						AGGAGACCCAGAAATTACAAG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	86	86			NA	NA	12		NA											NA				6626806		2203	4300	6503	SO:0001583	missense			D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292	9918	9918			24305	protein-coding gene	gene with protein product	chromosome condensation related SMC associated protein 1	615638			NA	8590280, 10958694	Standard	NM_014865	NM_014865	NA	Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.1365G>T	12.37:g.6626806G>T	ENSP00000325017:p.Gln455His	NA	D3DUR4|Q8N6U3	37	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880287	0.72294	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.08720	3.06;3.06;3.06	5.49	4.6	0.57074	Armadillo-type fold (1);	0.348665	0.33959	N	0.004393	T	0.12433	0.0302	L	0.27053	0.805	0.42037	D	0.991051	D;P;P	0.54397	0.966;0.747;0.943	P;P;P	0.53809	0.735;0.497;0.547	T	0.05954	-1.0854	10	0.45353	T	0.12	-16.3621	14.1457	0.65349	0.0727:0.0:0.9273:0.0	.	410;416;455	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	H	455;327;410;327	ENSP00000325017:Q455H;ENSP00000371895:Q327H;ENSP00000444417:Q410H	ENSP00000325017:Q455H	Q	+	3	2	NCAPD2	6497067	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.299000	0.43611	1.323000	0.45263	0.561000	0.74099	CAG	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399964.1		+	ENST00000315579.5	Missense_Mutation	SNP	12 : 6626806 - 6626806 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	328	57
CTNND2	1501	broad.mit.edu	37	5	11384844	11384844	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:11384844C>T	ENST00000304623.8	-	7	1299	c.1110G>A	c.(1108-1110)gaG>gaA	p.E370E	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000359640.2_Silent_p.E370E|CTNND2_ENST00000458100.2_Intron|CTNND2_ENST00000511377.1_Silent_p.E279E	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	370					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGCTGTACTGCTCGGACGCGT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	46	49			NA	NA	5		NA											NA				11384844		2203	4300	6503	SO:0001819	synonymous_variant			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862	1501	1501		Armadillo repeat containing	2516	protein-coding gene	gene with protein product	neural plakophilin-related arm-repeat protein	604275	catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)		NA	9342840, 9223106	Standard	NM_001332	XM_005248251	NA	Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1110G>A	5.37:g.11384844C>T		NA	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	37	CCDS3881.1																																																																																			CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206999.1		-	ENST00000304623.8	Silent	SNP	5 : 11384844 - 11384844 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	149	31
MTMR11	10903	broad.mit.edu	37	1	149906095	149906095	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149906095G>A	ENST00000369140.3	-	6	641	c.456C>T	c.(454-456)gaC>gaT	p.D152D	MTMR11_ENST00000439741.2_Silent_p.D224D|MTMR11_ENST00000361405.6_Silent_p.D224D|MTMR11_ENST00000406732.3_Silent_p.D196D|MTMR11_ENST00000492824.1_5'UTR	NM_181873.3	NP_870988.2	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	224							phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TGGTGGCTACGTCGAACCTCT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	97	99			NA	NA	1		NA											NA				149906095		2203	4300	6503	SO:0001819	synonymous_variant			AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914	10903	10903		Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins	24307	protein-coding gene	gene with protein product	cisplatin resistance associated				NA	12495846	Standard	NM_181873	NM_181873	NA	Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000369140.3:c.456C>T	1.37:g.149906095G>A		NA	B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	37	CCDS942.1																																																																																			MTMR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033751.1		-	ENST00000369140.3	Silent	SNP	1 : 149906095 - 149906095 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	740	138
EIF2B3	8891	broad.mit.edu	37	1	45340395	45340395	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45340395G>A	ENST00000360403.2	-	10	1283	c.1157C>T	c.(1156-1158)aCt>aTt	p.T386I	EIF2B3_ENST00000372183.3_Missense_Mutation_p.T386I	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	386					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					ATTGGTAATAGTCACTCTATC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(26;357 658 2581 11857 12657)							NA				0													176	164	168			NA	NA	1		NA											NA				45340395		2203	4300	6503	SO:0001583	missense			AF257077	CCDS517.1, CCDS53313.1, CCDS72775.1	1p34.1	2008-02-05	2002-08-29		ENSG00000070785	ENSG00000070785	8891	8891			3259	protein-coding gene	gene with protein product		606273	eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)		NA	10900014	Standard	NM_020365	NM_020365	NA	Approved	EIF2Bgamma, EIF-2B	uc001cmt.3	Q9NR50	OTTHUMG00000008585	ENST00000360403.2:c.1157C>T	1.37:g.45340395G>A	ENSP00000353575:p.Thr386Ile	NA	B2RBH8|D3DPZ2|Q5QP89|Q5QP90|Q8NDB5|Q8WV57|Q9H850	37	CCDS517.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.863932	0.51482	.	.	ENSG00000070785	ENST00000360403;ENST00000372183	T;D	0.93906	0.53;-3.31	5.52	3.46	0.39613	.	0.392077	0.30126	N	0.010343	D	0.89860	0.6837	L	0.42008	1.315	0.27819	N	0.941852	B;B;B	0.22541	0.001;0.071;0.001	B;B;B	0.27608	0.009;0.081;0.004	D	0.83820	0.0246	10	0.46703	T	0.11	-0.8284	11.9317	0.52849	0.0:0.0:0.4066:0.5933	.	386;386;386	Q9NR50-2;Q9NR50-3;Q9NR50	.;.;EI2BG_HUMAN	I	386	ENSP00000353575:T386I;ENSP00000361257:T386I	ENSP00000353575:T386I	T	-	2	0	EIF2B3	45112982	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	3.955000	0.56715	1.312000	0.45043	0.655000	0.94253	ACT	EIF2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000023724.1		-	ENST00000360403.2	Missense_Mutation	SNP	1 : 45340395 - 45340395 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	472	17
CASR	846	broad.mit.edu	37	3	122002644	122002644	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122002644G>A	ENST00000498619.1	+	7	2311	c.1873G>A	c.(1873-1875)Gca>Aca	p.A625T	CASR_ENST00000490131.1_Missense_Mutation_p.A615T|CASR_ENST00000296154.5_Missense_Mutation_p.A615T	NM_001178065.1	NP_001171536	P41180	CASR_HUMAN	calcium-sensing receptor	615					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTTTGGGATCGCACTCACCCT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	133	146			NA	NA	3		NA											NA				122002644		2203	4300	6503	SO:0001583	missense			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828	846	846		GPCR / Class C : Calcium-sensing receptors	1514	protein-coding gene	gene with protein product	severe neonatal hyperparathyroidism	601199	hypocalciuric hypercalcemia 1	HHC, HHC1	NA	7677761	Standard	NM_000388	NM_000388	NA	Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000498619.1:c.1873G>A	3.37:g.122002644G>A	ENSP00000420194:p.Ala625Thr	NA	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	37	CCDS54632.1	.	.	.	.	.	.	.	.	.	.	G	5.186	0.219855	0.09863	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.89343	-2.5;-2.49;-2.5	5.91	5.91	0.95273	GPCR, family 3, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90745	0.7095	L	0.35542	1.07	0.58432	D	0.999998	D;P	0.89917	1.0;0.9	D;B	0.79784	0.993;0.167	D	0.85965	0.1473	10	0.10377	T	0.69	.	19.2828	0.94058	0.0:0.0:1.0:0.0	.	625;615	E7ENE0;P41180	.;CASR_HUMAN	T	615;625;615	ENSP00000418685:A615T;ENSP00000420194:A625T;ENSP00000296154:A615T	ENSP00000296154:A615T	A	+	1	0	CASR	123485334	1.000000	0.71417	0.949000	0.38748	0.753000	0.42808	6.632000	0.74281	2.804000	0.96469	0.462000	0.41574	GCA	CASR-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355762.1		+	ENST00000498619.1	Missense_Mutation	SNP	3 : 122002644 - 122002644 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	365	59
HIVEP3	59269	broad.mit.edu	37	1	42049369	42049369	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:42049369C>T	ENST00000372584.1	-	3	2114	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	HIVEP3_ENST00000429157.2_Missense_Mutation_p.R367H|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R367H|HIVEP3_ENST00000372583.1_Missense_Mutation_p.R367H	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	367	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTCGCTTAAGCGGAGGGCCAG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	88	89			NA	NA	1		NA											NA				42049369		2203	4300	6503	SO:0001583	missense			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124	59269	59269		Zinc fingers, C2H2-type	13561	protein-coding gene	gene with protein product	kappabinding protein-1	606649	human immunodeficiency virus type I enhancer-binding protein 3		NA	11161801	Standard	NM_024503	NR_038260	NA	Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372584.1:c.1100G>A	1.37:g.42049369C>T	ENSP00000361665:p.Arg367His	NA	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	37	CCDS44124.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110022	0.77210	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.15	5.15	0.70609	.	0.000000	0.48767	D	0.000175	T	0.53932	0.1827	L	0.27053	0.805	0.52099	D	0.999941	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.57717	-0.7763	10	0.72032	D	0.01	-0.0331	18.4234	0.90600	0.0:1.0:0.0:0.0	.	367;367	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	H	367	ENSP00000361665:R367H;ENSP00000361664:R367H;ENSP00000247584:R367H;ENSP00000410828:R367H	ENSP00000247584:R367H	R	-	2	0	HIVEP3	41821956	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.932000	0.70121	2.689000	0.91719	0.655000	0.94253	CGC	HIVEP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000016977.1		-	ENST00000372584.1	Missense_Mutation	SNP	1 : 42049369 - 42049369 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	461	98
NUDT12	83594	broad.mit.edu	37	5	102887938	102887938	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:102887938G>A	ENST00000507423.1	-	6	1296	c.1204C>T	c.(1204-1206)Cgc>Tgc	p.R402C	NUDT12_ENST00000230792.2_Missense_Mutation_p.R420C			Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	420	Nudix hydrolase.					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		GTGAACCAGCGGGCATCCTCT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/ARG	0,4404		0,0,2202	154	149	151		1258	5.8	1	5		151	1,8599	1.2+/-3.3	0,1,4299	no	missense	NUDT12	NM_031438.2	180	0,1,6501	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	420/463	102887938	1,13003	2202	4300	6502	SO:0001583	missense			AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874	83594	83594		Nudix motif containing, Ankyrin repeat domain containing	18826	protein-coding gene	gene with protein product	nucleoside diphosphate linked moiety X-type motif 12	609232			NA	11230166	Standard	NM_031438	XM_005272095	NA	Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000507423.1:c.1204C>T	5.37:g.102887938G>A	ENSP00000424521:p.Arg402Cys	NA	B3KUW2|Q8TAL7	37		.	.	.	.	.	.	.	.	.	.	G	17.86	3.492679	0.64074	0.0	1.16E-4	ENSG00000112874	ENST00000230792;ENST00000507423	T;T	0.09723	2.95;2.95	5.76	5.76	0.90799	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.045576	0.85682	D	0.000000	T	0.26846	0.0657	M	0.85630	2.765	0.80722	D	1	P;D	0.54964	0.908;0.969	B;P	0.50162	0.244;0.633	T	0.02411	-1.1163	10	0.62326	D	0.03	-7.224	14.1623	0.65454	0.0714:0.0:0.9286:0.0	.	402;420	E7EM93;Q9BQG2	.;NUD12_HUMAN	C	420;402	ENSP00000230792:R420C;ENSP00000424521:R402C	ENSP00000230792:R420C	R	-	1	0	NUDT12	102915837	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.453000	0.73488	2.724000	0.93272	0.650000	0.86243	CGC	NUDT12-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000370367.1		-	ENST00000507423.1	Missense_Mutation	SNP	5 : 102887938 - 102887938 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	516	86
STX11	8676	broad.mit.edu	37	6	144508031	144508031	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144508031C>T	ENST00000367568.4	+	2	450	c.267C>T	c.(265-267)atC>atT	p.I89I		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	89					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		CCAACTCCATCGCCAAGGCCA	0.677		NA							Familial Hemophagocytic Lymphohistiocytosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	27	26			NA	NA	6		NA											NA				144508031		2203	4299	6502	SO:0001819	synonymous_variant	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604	8676	8676			11429	protein-coding gene	gene with protein product		605014			NA	9553086	Standard		NM_003764	NA	Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.267C>T	6.37:g.144508031C>T		NA	E1P598|O75378|O95148|Q5TCL6	37	CCDS5205.1																																																																																			STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042544.1		+	ENST00000367568.4	Silent	SNP	6 : 144508031 - 144508031 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	277	51
CLASP2	23122	broad.mit.edu	37	3	33623338	33623338	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33623338A>G	ENST00000399362.4	-	23	2675	c.2322T>C	c.(2320-2322)agT>agC	p.S774S	CLASP2_ENST00000468888.2_Silent_p.S775S|CLASP2_ENST00000480013.1_Silent_p.S541S|CLASP2_ENST00000461133.3_Silent_p.S541S|CLASP2_ENST00000307312.7_Silent_p.S263S|CLASP2_ENST00000359576.5_Silent_p.S774S|CLASP2_ENST00000539981.1_Silent_p.S544S	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	775										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						AGCGAACAGGACTTGTGTCTC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	132	128			NA	NA	3		NA											NA				33623338		2062	4206	6268	SO:0001819	synonymous_variant			AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539	23122	23122			17078	protein-coding gene	gene with protein product		605853			NA	9734811, 10899121	Standard	NM_001207044	NM_015097	NA	Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000399362.4:c.2322T>C	3.37:g.33623338A>G		NA		37																																																																																				CLASP2-002	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000356444.3		-	ENST00000399362.4	Silent	SNP	3 : 33623338 - 33623338 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	120	26
ITGA8	8516	broad.mit.edu	37	10	15729956	15729956	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15729956G>T	ENST00000378076.3	-	3	778	c.425C>A	c.(424-426)gCt>gAt	p.A142D		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	142					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TCCTTTGTGAGCTTTCACTGT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													227	193	205			NA	NA	10		NA											NA				15729956		2202	4300	6502	SO:0001583	missense			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943	8516	8516		Integrins	6144	protein-coding gene	gene with protein product		604063			NA	7768999	Standard	NM_003638	XM_005252633	NA	Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.425C>A	10.37:g.15729956G>T	ENSP00000367316:p.Ala142Asp	NA	B0YJ31|Q5VX94	37	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490544	0.84962	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	D	0.85629	-2.01	5.5	5.5	0.81552	.	0.047344	0.85682	D	0.000000	D	0.92080	0.7490	M	0.70275	2.135	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72982	0.979;0.937	D	0.92576	0.6070	10	0.87932	D	0	.	19.3886	0.94570	0.0:0.0:1.0:0.0	.	142;142	F5H818;P53708	.;ITA8_HUMAN	D	142	ENSP00000367316:A142D	ENSP00000367316:A142D	A	-	2	0	ITGA8	15769962	1.000000	0.71417	0.838000	0.33150	0.712000	0.41017	9.476000	0.97823	2.583000	0.87209	0.491000	0.48974	GCT	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046987.1		-	ENST00000378076.3	Missense_Mutation	SNP	10 : 15729956 - 15729956 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	647	127
NCF2	4688	broad.mit.edu	37	1	183532664	183532664	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183532664C>T	ENST00000367535.3	-	12	1334	c.1083G>A	c.(1081-1083)acG>acA	p.T361T	NCF2_ENST00000469280.1_5'UTR|NCF2_ENST00000418089.1_Silent_p.T280T|NCF2_ENST00000413720.1_Silent_p.T316T|NCF2_ENST00000367536.1_Silent_p.T361T	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	361	OPR.				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						TCATGACTACCGTGTACTTGT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	110	114			NA	NA	1		NA											NA				183532664		2203	4300	6503	SO:0001819	synonymous_variant			BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701	4688	4688		Tetratricopeptide (TTC) repeat domain containing	7661	protein-coding gene	gene with protein product	NADPH oxidase activator 2, chronic granulomatous disease, autosomal 2	608515	neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)		NA		Standard	NM_000433	NM_000433	NA	Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.1083G>A	1.37:g.183532664C>T		NA	B2R6Q1|Q2PP06|Q8NFC7|Q9BV51	37	CCDS1356.1																																																																																			NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085483.1		-	ENST00000367535.3	Silent	SNP	1 : 183532664 - 183532664 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	776	118
CYP2R1	120227	broad.mit.edu	37	11	14902107	14902107	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14902107T>G	ENST00000532378.1	-	4	932				CYP2R1_ENST00000526489.1_5'UTR|CYP2R1_ENST00000334636.5_Missense_Mutation_p.N192T			Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	NA					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	AATGATCAGATTGGTTATGTT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(173;1584 2058 26117 29365 41534)							NA				0													105	97	100			NA	NA	11		NA											NA				14902107		2200	4293	6493	SO:0001627	intron_variant			AY323817	CCDS7818.1	11p15.2	2008-02-05			ENSG00000186104	ENSG00000186104	120227	120227		Cytochrome P450s	20580	protein-coding gene	gene with protein product		608713			NA	12464240, 12867411	Standard	NM_024514	XM_005252788	NA	Approved		uc001mlr.3	Q6VVX0	OTTHUMG00000165900	ENST00000532378.1:c.78-202A>C	11.37:g.14902107T>G		NA	Q2M3H3|Q5RT65	37		.	.	.	.	.	.	.	.	.	.	T	20.5	4.008957	0.75046	.	.	ENSG00000186104	ENST00000334636	T	0.67345	-0.26	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.79173	0.4401	L	0.55213	1.73	0.80722	D	1	D;P	0.76494	0.999;0.736	D;P	0.85130	0.997;0.649	T	0.80915	-0.1169	10	0.87932	D	0	.	16.3196	0.82941	0.0:0.0:0.0:1.0	.	77;192	E9PS56;Q6VVX0	.;CP2R1_HUMAN	T	192	ENSP00000334592:N192T	ENSP00000334592:N192T	N	-	2	0	CYP2R1	14858683	1.000000	0.71417	0.992000	0.48379	0.933000	0.57130	5.167000	0.64972	2.248000	0.74166	0.459000	0.35465	AAT	CYP2R1-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000386984.2		-	ENST00000532378.1	Intron	SNP	11 : 14902107 - 14902107 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	264	52
RPA3	6119	broad.mit.edu	37	7	7679979	7679979	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:7679979G>A	ENST00000223129.4	-	5	1242	c.71C>T	c.(70-72)cCt>cTt	p.P24L	RPA3_ENST00000406109.1_Intron|RPA3_ENST00000396682.2_Missense_Mutation_p.P24L	NM_002947.3	NP_002938.1	P35244	RFA3_HUMAN	replication protein A3, 14kDa	24					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	cytoplasm|DNA replication factor A complex|nucleoplasm	protein binding|single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.202)		GAAGCAGACAGGCTTGTCGAT	0.597		NA						Direct reversal of damage;Nucleotide excision repair (NER)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(148;376 1816 25359 26011 31717)							NA				0													116	106	109			NA	NA	7		NA											NA				7679979		2203	4300	6503	SO:0001583	missense				CCDS5356.1	7p21.3	2013-09-23	2002-08-29		ENSG00000106399	ENSG00000106399	6119	6119			10291	protein-coding gene	gene with protein product		179837	replication protein A3 (14kD)		NA	8454588	Standard	NM_002947	NM_002947	NA	Approved	REPA3	uc003sri.3	P35244	OTTHUMG00000023748	ENST00000223129.4:c.71C>T	7.37:g.7679979G>A	ENSP00000223129:p.Pro24Leu	NA	Q549U6	37	CCDS5356.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116445	0.77323	.	.	ENSG00000106399	ENST00000223129;ENST00000396682	.	.	.	5.08	5.08	0.68730	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.100829	0.64402	D	0.000001	T	0.75925	0.3916	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69367	-0.5164	9	0.09590	T	0.72	-3.567	17.7854	0.88536	0.0:0.0:1.0:0.0	.	24	P35244	RFA3_HUMAN	L	24	.	ENSP00000223129:P24L	P	-	2	0	RPA3	7646504	1.000000	0.71417	0.938000	0.37757	0.937000	0.57800	3.764000	0.55264	2.808000	0.96608	0.655000	0.94253	CCT	RPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324778.2		-	ENST00000223129.4	Missense_Mutation	SNP	7 : 7679979 - 7679979 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	697	126
OR4A15	81328	broad.mit.edu	37	11	55136198	55136198	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55136198T>C	ENST00000314706.3	+	1	839	c.839T>C	c.(838-840)gTc>gCc	p.V280A		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTATTCTTTGTCCCCTGTATC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													254	241	245			NA	NA	11		NA											NA				55136198		2201	4296	6497	SO:0001583	missense			AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958	81328	81328		GPCR / Class A : Olfactory receptors	15152	protein-coding gene	gene with protein product					NA		Standard	NM_001005275	NM_001005275	NA	Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.839T>C	11.37:g.55136198T>C	ENSP00000325065:p.Val280Ala	NA	Q6IFL4|Q96R65	37	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	-	17.68	3.449808	0.63290	.	.	ENSG00000181958	ENST00000314706	T	0.38240	1.15	3.65	2.51	0.30379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000387	T	0.37237	0.0996	L	0.50333	1.59	0.09310	N	0.999992	P	0.40000	0.698	P	0.47075	0.536	T	0.17258	-1.0375	10	0.56958	D	0.05	.	6.854	0.24030	0.0:0.1169:0.0:0.8831	.	280	Q8NGL6	O4A15_HUMAN	A	280	ENSP00000325065:V280A	ENSP00000325065:V280A	V	+	2	0	OR4A15	54892774	0.000000	0.05858	0.110000	0.21437	0.467000	0.32768	-0.314000	0.08092	0.488000	0.27723	0.403000	0.27427	GTC	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391161.1		+	ENST00000314706.3	Missense_Mutation	SNP	11 : 55136198 - 55136198 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1076	230
TXN	7295	broad.mit.edu	37	9	113006460	113006460	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113006460C>A	ENST00000374517.5	-	5	499	c.295G>T	c.(295-297)Gcc>Tcc	p.A99S	TXN_ENST00000374515.5_Missense_Mutation_p.A79S|TXN_ENST00000487892.1_5'UTR	NM_003329.3	NP_003320.2	P10599	THIO_HUMAN	thioredoxin	99	Thioredoxin.				cell proliferation|cell-cell signaling|cellular component movement|electron transport chain|glycerol ether metabolic process|nucleobase, nucleoside and nucleotide interconversion|positive regulation of DNA binding|regulation of protein import into nucleus, translocation|response to radiation|signal transduction|transcription, DNA-dependent|transport	cytosol|extracellular region|nucleoplasm	electron carrier activity|protein binding|protein disulfide oxidoreductase activity			kidney(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(323;7.36e-07)		TTAATGGTGGCTTCAAGCTTT	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	34	35			NA	NA	9		NA											NA				113006460		2202	4295	6497	SO:0001583	missense			X77584	CCDS35103.1, CCDS59139.1	9q31	2008-02-05			ENSG00000136810	ENSG00000136810	7295	7295			12435	protein-coding gene	gene with protein product		187700			NA		Standard		NM_003329	NA	Approved	TRX	uc004bep.2	P10599	OTTHUMG00000020480	ENST00000374517.5:c.295G>T	9.37:g.113006460C>A	ENSP00000363641:p.Ala99Ser	NA	Q53X69|Q96KI3|Q9UDG5	37	CCDS35103.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.381254	0.24944	.	.	ENSG00000136810	ENST00000374517;ENST00000374515	T;T	0.22336	3.95;1.96	5.45	3.39	0.38822	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.216640	0.36519	N	0.002548	T	0.14830	0.0358	N	0.25825	0.765	0.29885	N	0.825726	B;B	0.17667	0.023;0.023	B;B	0.27796	0.083;0.051	T	0.16129	-1.0413	10	0.16420	T	0.52	-2.3374	11.7284	0.51722	0.3316:0.6684:0.0:0.0	.	79;99	B1ALW1;P10599	.;THIO_HUMAN	S	99;79	ENSP00000363641:A99S;ENSP00000363639:A79S	ENSP00000363639:A79S	A	-	1	0	TXN	112046281	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.354000	0.44098	1.266000	0.44231	0.655000	0.94253	GCC	TXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053614.1		-	ENST00000374517.5	Missense_Mutation	SNP	9 : 113006460 - 113006460 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	172	43
CNNM2	54805	broad.mit.edu	37	10	104679703	104679703	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104679703C>T	ENST00000369878.4	+	1	1654	c.1466C>T	c.(1465-1467)tCc>tTc	p.S489F	CNNM2_ENST00000369875.3_Missense_Mutation_p.S489F|CNNM2_ENST00000433628.2_Missense_Mutation_p.S489F	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	NA	CBS 1.				ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGGGAGCGCTCCAATATCGTG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	103	105			NA	NA	10		NA											NA				104679703		2203	4300	6503	SO:0001583	missense			AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842	54805	54805			103	protein-coding gene	gene with protein product		607803	cyclin M2	ACDP2	NA	21393841, 24699222	Standard	NM_017649	NM_017649	NA	Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.1466C>T	10.37:g.104679703C>T	ENSP00000358894:p.Ser489Phe	NA	Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	37	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917192	0.52546	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369875;ENST00000369878;ENST00000345419;ENST00000541201	T;T;T	0.77489	-1.1;-1.1;-1.1	5.09	5.09	0.68999	Cystathionine beta-synthase, core (1);	0.104424	0.64402	D	0.000002	D	0.90256	0.6953	M	0.90759	3.145	0.80722	D	1	P;P;D	0.64830	0.933;0.932;0.994	P;P;D	0.70227	0.77;0.593;0.968	D	0.92372	0.5906	10	0.87932	D	0	.	18.475	0.90790	0.0:1.0:0.0:0.0	.	489;489;489	Q9H8M5-2;Q9H8M5;F5H1I3	.;CNNM2_HUMAN;.	F	489	ENSP00000392875:S489F;ENSP00000358891:S489F;ENSP00000358894:S489F	ENSP00000286899:S489F	S	+	2	0	CNNM2	104669693	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.696000	0.61774	2.343000	0.79666	0.561000	0.74099	TCC	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050113.3		+	ENST00000369878.4	Missense_Mutation	SNP	10 : 104679703 - 104679703 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	475	79
TEP1	7011	broad.mit.edu	37	14	20841723	20841723	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20841723C>T	ENST00000556935.1	-	44	6339	c.6300G>A	c.(6298-6300)gaG>gaA	p.E2100E	TEP1_ENST00000262715.5_Silent_p.E2208E|TEP1_ENST00000545983.1_Silent_p.E546E			Q99973	TEP1_HUMAN	telomerase-associated protein 1	2208					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCACCAGAAGCTCTGACCCAG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	69	70			NA	NA	14		NA											NA				20841723		2203	4300	6503	SO:0001819	synonymous_variant				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566	7011	7011		WD repeat domain containing	11726	protein-coding gene	gene with protein product	TROVE domain family, member 1	601686			NA	9403057	Standard	NM_007110	NM_007110	NA	Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000556935.1:c.6300G>A	14.37:g.20841723C>T		NA	A0AUV9	37																																																																																				TEP1-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000410689.1		-	ENST00000556935.1	Silent	SNP	14 : 20841723 - 20841723 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	278	18
MYH7B	57644	broad.mit.edu	37	20	33565843	33565843	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33565843G>A	ENST00000262873.7	+	3	253	c.161G>A	c.(160-162)cGc>cAc	p.R54H		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	12						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GAGTCTGCCCGCTACCTCCGC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	85	83			NA	NA	20		NA											NA				33565843		2184	4281	6465	SO:0001583	missense			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814	57644	57644		Myosins / Myosin superfamily : Class II	15906	protein-coding gene	gene with protein product		609928	myosin, heavy polypeptide 7B, cardiac muscle, beta		NA	11919279, 15014174	Standard	NM_020884	XM_006723839	NA	Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.161G>A	20.37:g.33565843G>A	ENSP00000262873:p.Arg54His	NA	Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	37	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319059	0.41096	.	.	ENSG00000078814	ENST00000262873	D	0.85955	-2.05	4.98	1.68	0.24146	.	0.716583	0.11545	N	0.553324	T	0.68155	0.2970	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.58624	-0.7604	10	0.56958	D	0.05	.	5.5154	0.16904	0.2844:0.4509:0.2647:0.0	.	12	A7E2Y1	MYH7B_HUMAN	H	54	ENSP00000262873:R54H	ENSP00000262873:R54H	R	+	2	0	MYH7B	33029504	0.000000	0.05858	0.998000	0.56505	0.917000	0.54804	0.014000	0.13333	0.642000	0.30620	0.655000	0.94253	CGC	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078833.2		+	ENST00000262873.7	Missense_Mutation	SNP	20 : 33565843 - 33565843 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	600	113
SLCO1C1	53919	broad.mit.edu	37	12	20890164	20890164	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20890164T>C	ENST00000266509.2	+	11	1874	c.1506T>C	c.(1504-1506)tgT>tgC	p.C502C	SLCO1C1_ENST00000381552.1_Silent_p.C502C|SLCO1C1_ENST00000545102.1_Silent_p.C384C|SLCO1C1_ENST00000540354.1_Silent_p.C453C|SLCO1C1_ENST00000545604.1_Silent_p.C502C	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	502	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TATCAGCTTGTCTTGCTGGTT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	97	100			NA	NA	12		NA											NA				20890164		2203	4300	6503	SO:0001819	synonymous_variant			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155	53919	53919		Solute carriers	13819	protein-coding gene	gene with protein product		613389	solute carrier family 21 (organic anion transporter), member 14	SLC21A14	NA		Standard	NM_017435	NM_017435	NA	Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1506T>C	12.37:g.20890164T>C		NA		37	CCDS8683.1																																																																																			SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401765.1		+	ENST00000266509.2	Silent	SNP	12 : 20890164 - 20890164 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	441	85
AMHR2	269	broad.mit.edu	37	12	53823757	53823757	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53823757G>A	ENST00000379791.3	+	8	1140				AMHR2_ENST00000257863.4_Missense_Mutation_p.R428K|AMHR2_ENST00000550311.1_Missense_Mutation_p.R428K	NM_001164691.1	NP_001158163.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	NA					Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CCAGATTTGAGGCCTGGTAAG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	83	82			NA	NA	12		NA											NA				53823757		2203	4300	6503	SO:0001627	intron_variant			AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14					269	269			465	protein-coding gene	gene with protein product	Muellerian inhibiting substance type II receptor	600956			NA	7493017	Standard	NM_020547	NM_001164690	NA	Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000379791.3:c.1140+348G>A	12.37:g.53823757G>A		NA	A0AVE1|B9EGB7|Q13762	37	CCDS53798.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.224872	0.39300	.	.	ENSG00000135409	ENST00000257863;ENST00000550311	T;T	0.64085	-0.08;-0.08	4.86	3.61	0.41365	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.173220	0.06544	N	0.743676	T	0.49712	0.1573	L	0.31664	0.95	0.39683	D	0.970929	B;B	0.20164	0.034;0.042	B;B	0.26202	0.025;0.067	T	0.47446	-0.9117	10	0.29301	T	0.29	.	4.7159	0.12894	0.1342:0.0:0.6618:0.204	.	428;428	F8W1D2;Q16671	.;AMHR2_HUMAN	K	428	ENSP00000257863:R428K;ENSP00000446661:R428K	ENSP00000257863:R428K	R	+	2	0	AMHR2	52110024	0.038000	0.19896	0.844000	0.33320	0.981000	0.71138	0.976000	0.29462	1.282000	0.44496	0.557000	0.71058	AGG	AMHR2-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407050.1		+	ENST00000379791.3	Intron	SNP	12 : 53823757 - 53823757 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	573	142
NCAN	1463	broad.mit.edu	37	19	19339148	19339148	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19339148A>G	ENST00000252575.6	+	8	2818	c.2719A>G	c.(2719-2721)Acc>Gcc	p.T907A	NCAN_ENST00000538881.1_Missense_Mutation_p.T358A	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	NA					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			TCAGGTGGAGACCCAGGGAAC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	88	87			NA	NA	19		NA											NA				19339148		2203	4300	6503	SO:0001583	missense			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287	1463	1463		Immunoglobulin superfamily / V-set domain containing, Proteoglycans / Extracellular Matrix : Hyalectans, Endogenous ligands	2465	protein-coding gene	gene with protein product	neurocan proteoglycan	600826	chondroitin sulfate proteoglycan 3	CSPG3	NA	1326557, 21353194	Standard	NM_004386	NM_004386	NA	Approved		uc002nlz.3	O14594		ENST00000252575.6:c.2719A>G	19.37:g.19339148A>G	ENSP00000252575:p.Thr907Ala	NA	Q9UPK6	37	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	A	7.693	0.691540	0.15039	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.84516	-1.71;-1.86	3.49	-0.261	0.12963	.	0.996046	0.08127	N	0.993839	T	0.66366	0.2782	N	0.12746	0.255	0.09310	N	1	B;B	0.17852	0.024;0.0	B;B	0.08055	0.003;0.001	T	0.51252	-0.8729	10	0.07175	T	0.84	.	5.8932	0.18925	0.5843:0.0:0.4157:0.0	.	921;907	Q4LE67;O14594	.;NCAN_HUMAN	A	921;907;358	ENSP00000252575:T907A;ENSP00000442202:T358A	ENSP00000252575:T907A	T	+	1	0	NCAN	19200148	0.003000	0.15002	0.335000	0.25508	0.385000	0.30292	0.082000	0.14847	-0.038000	0.13624	-0.415000	0.06103	ACC	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460111.2		+	ENST00000252575.6	Missense_Mutation	SNP	19 : 19339148 - 19339148 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	621	20
DNAH9	1770	broad.mit.edu	37	17	11711199	11711199	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11711199C>A	ENST00000454412.2	+	44	8571	c.8571C>A	c.(8569-8571)atC>atA	p.I2857I	DNAH9_ENST00000262442.4_Silent_p.I2857I			Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2857	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCTACCAGATCCAGGACTTCA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	51	53			NA	NA	17		NA											NA				11711199		2203	4300	6503	SO:0001819	synonymous_variant			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174	1770	1770		Axonemal dyneins	2953	protein-coding gene	gene with protein product		603330	dynein, axonemal, heavy polypeptide 17-like, dynein, axonemal, heavy polypeptide 9	DNAH17L	NA	8812413, 11247663	Standard	NM_001372	NM_001372	NA	Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000454412.2:c.8571C>A	17.37:g.11711199C>A		NA	O15064|O95494|Q9NQ28	37																																																																																				DNAH9-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000252758.4		+	ENST00000454412.2	Silent	SNP	17 : 11711199 - 11711199 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	56
PTK2	5747	broad.mit.edu	37	8	141774407	141774407	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141774407G>T	ENST00000519465.1	-	1	215	c.44C>A	c.(43-45)tCt>tAt	p.S15Y	PTK2_ENST00000522684.1_Intron|PTK2_ENST00000517887.1_Intron|PTK2_ENST00000395218.2_Intron|PTK2_ENST00000340930.3_Intron|PTK2_ENST00000520151.1_Missense_Mutation_p.S15Y|PTK2_ENST00000521059.1_Intron|PTK2_ENST00000538769.1_Intron|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000519419.1_Intron			Q05397	FAK1_HUMAN	protein tyrosine kinase 2	0					axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			AAAAGAAACAGATATGTTGAA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	105	106			NA	NA	8		NA											NA				141774407		2203	4300	6503	SO:0001583	missense			L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	5747	5747	2.7.10.1	Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	9611	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 71	600758	PTK2 protein tyrosine kinase 2		NA	8422239	Standard	NM_005607	NM_153831	NA	Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000519465.1:c.44C>A	8.37:g.141774407G>T	ENSP00000429170:p.Ser15Tyr	NA	Q14291|Q9UD85	37		.	.	.	.	.	.	.	.	.	.	G	12.01	1.808922	0.31961	.	.	ENSG00000169398	ENST00000519465;ENST00000519024	T;T	0.77750	-1.01;-1.12	4.56	-8.04	0.01110	.	.	.	.	.	T	0.67979	0.2951	.	.	.	0.19945	N	0.999944	P	0.48016	0.904	P	0.49597	0.616	T	0.60627	-0.7226	7	.	.	.	.	1.2254	0.01932	0.3362:0.0871:0.2562:0.3206	.	15	E9PEI4	.	Y	15	ENSP00000429170:S15Y;ENSP00000428232:S15Y	.	S	-	2	0	PTK2	141843589	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.293000	0.08320	-2.018000	0.00943	-2.614000	0.00158	TCT	PTK2-005	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000378053.3		-	ENST00000519465.1	Missense_Mutation	SNP	8 : 141774407 - 141774407 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	16
AKT3	10000	broad.mit.edu	37	1	244006483	244006483	+	Translation_Start_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:244006483C>A	ENST00000366539.1	-	0	190				AKT3_ENST00000263826.5_De_novo_Start_InFrame|AKT3_ENST00000366540.1_De_novo_Start_InFrame|AKT3_ENST00000336199.5_De_novo_Start_InFrame			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	NA					signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			GATGACTCCCCTCTGAGCCCC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	124	127			NA	NA	1		NA											NA				244006483		2203	4300	6503					AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	10000	10000	2.7.11.1	Pleckstrin homology (PH) domain containing	393	protein-coding gene	gene with protein product	protein kinase B, gamma	611223			NA	10092583, 10208883	Standard	NM_181690	NM_005465	NA	Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994	ENST00000366539.1:	1.37:g.244006483C>A		NA	Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	37	CCDS31077.1																																																																																			AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096479.1		-	ENST00000366539.1	De_novo_Start_InFrame	SNP	1 : 244006483 - 244006483 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	540	69
KIAA1210	57481	broad.mit.edu	37	X	118239009	118239009	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118239009T>C	ENST00000402510.2	-	7	1013	c.1014A>G	c.(1012-1014)tcA>tcG	p.S338S		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	338										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GATTCTTAGGTGACTCATCAT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	144	146			NA	NA	X		NA											NA				118239009		1908	4127	6035	SO:0001819	synonymous_variant			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423	57481	57481			29218	protein-coding gene	gene with protein product					NA	10574462	Standard	NM_020721	NM_020721	NA	Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.1014A>G	X.37:g.118239009T>C		NA	B7ZCI8|Q5JPN4	37	CCDS48156.1																																																																																			KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000371251.2		-	ENST00000402510.2	Silent	SNP	X : 118239009 - 118239009 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	742	24
AR	367	broad.mit.edu	37	X	66937403	66937403	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:66937403C>T	ENST00000374690.3	+	5	2781	c.2257C>T	c.(2257-2259)Cga>Tga	p.R753*	AR_ENST00000396044.3_Intron|AR_ENST00000396043.2_Nonsense_Mutation_p.R221*	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	752	Interaction with MYST2.|Ligand-binding.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CATGGGCTGGCGATCCTTCAC	0.532		NA							Androgen Insensitivity Syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM920998	AR	M							148	102	117			NA	NA	X		NA											NA				66937403		2203	4300	6503	SO:0001587	stop_gained	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083	367	367		Nuclear hormone receptors	644	protein-coding gene	gene with protein product	testicular feminization, Kennedy disease	313700	dihydrotestosterone receptor, spinal and bulbar muscular atrophy	DHTR, SBMA	NA	3353726, 3377788	Standard	NM_000044	NM_000044	NA	Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.2257C>T	X.37:g.66937403C>T	ENSP00000363822:p.Arg753*	NA	A2RUN2|B1AKD7|Q9UD95	37	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	c	35	5.473941	0.96291	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000396043	.	.	.	4.99	1.86	0.25419	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6126	0.45432	0.6588:0.3412:0.0:0.0	.	.	.	.	X	563;753;221	.	ENSP00000363822:R753X	R	+	1	2	AR	66854128	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.969000	0.49232	0.464000	0.27142	0.597000	0.82753	CGA	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057007.1		+	ENST00000374690.3	Nonsense_Mutation	SNP	X : 66937403 - 66937403 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	145	50
TTN	7273	broad.mit.edu	37	2	179631200	179631200	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179631200C>T	ENST00000589042.1	-	41	9835	c.9611G>A	c.(9610-9612)cGa>cAa	p.R3204Q	TTN_ENST00000342992.6_Missense_Mutation_p.R3204Q|TTN_ENST00000460472.2_Missense_Mutation_p.R3158Q|TTN_ENST00000359218.5_Missense_Mutation_p.R3158Q|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.R3204Q|TTN_ENST00000342175.6_Missense_Mutation_p.R3158Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R3204Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2937							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATAAACATTCGGTGGATTCT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	162	166			NA	NA	2		NA											NA				179631200		2203	4300	6503	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.9611G>A	2.37:g.179631200C>T	ENSP00000467141:p.Arg3204Gln	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419283	0.62622	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.55	5.55	0.83447	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77512	0.4141	L	0.58810	1.83	0.26641	N	0.972283	D;D;D;D;D	0.76494	0.997;0.997;0.997;0.997;0.999	P;P;P;P;D	0.63793	0.778;0.778;0.778;0.778;0.918	T	0.70799	-0.4774	9	0.87932	D	0	.	13.7635	0.62981	0.0:0.9263:0.0:0.0737	.	3158;3158;3158;3204;3204	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Q	3204;3158;3158;3158;3158;3204	ENSP00000343764:R3204Q;ENSP00000434586:R3158Q;ENSP00000340554:R3158Q;ENSP00000352154:R3158Q;ENSP00000354117:R3204Q	ENSP00000340554:R3158Q	R	-	2	0	TTN	179339445	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.659000	0.61504	2.625000	0.88918	0.591000	0.81541	CGA	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179631200 - 179631200 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	672	104
DSC1	1823	broad.mit.edu	37	18	28710482	28710482	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28710482T>G	ENST00000257198.5	-	16	2941	c.2680A>C	c.(2680-2682)Aaa>Caa	p.K894Q	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_3'UTR	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	894					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CACATTTATTTCTTGATGCAT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	129	130			NA	NA	18		NA											NA				28710482		2203	4300	6503	SO:0001583	missense			AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765	1823	1823		Cadherins / Major cadherins	3035	protein-coding gene	gene with protein product		125643			NA	8486729	Standard	NM_004948, NM_024421	NM_024421	NA	Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.2680A>C	18.37:g.28710482T>G	ENSP00000257198:p.Lys894Gln	NA	Q9HB01	37	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.453221	0.43531	.	.	ENSG00000134765	ENST00000257198	T	0.58940	0.3	6.17	0.998	0.19857	.	0.646706	0.14215	N	0.333813	T	0.45054	0.1323	L	0.34521	1.04	0.23156	N	0.998203	B	0.19200	0.034	B	0.24394	0.053	T	0.41998	-0.9477	10	0.56958	D	0.05	.	9.4925	0.38969	0.1086:0.0:0.3923:0.4991	.	894	Q08554	DSC1_HUMAN	Q	894	ENSP00000257198:K894Q	ENSP00000257198:K894Q	K	-	1	0	DSC1	26964480	0.921000	0.31238	0.066000	0.19879	0.158000	0.22134	1.302000	0.33459	0.213000	0.20722	0.533000	0.62120	AAA	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254946.1		-	ENST00000257198.5	Missense_Mutation	SNP	18 : 28710482 - 28710482 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	781	149
CYP1B1	1545	broad.mit.edu	37	2	38298319	38298319	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:38298319C>A	ENST00000260630.3	-	3	1579	c.1178G>T	c.(1177-1179)aGc>aTc	p.S393I	CYP1B1_ENST00000494864.1_5'UTR|CYP1B1_ENST00000407341.1_Missense_Mutation_p.S393I	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	393					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	AGGCACAAAGCTGGAGAAGCG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	43	45			NA	NA	2		NA											NA				38298319		2203	4298	6501	SO:0001583	missense			U56438	CCDS1793.1	2p22.2	2008-02-05	2003-01-14		ENSG00000138061	ENSG00000138061	1545	1545		Cytochrome P450s	2597	protein-coding gene	gene with protein product		601771	cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)	GLC3A	NA	8175734, 15128046	Standard	NM_000104	NM_000104	NA	Approved	CP1B	uc002rqo.2	Q16678	OTTHUMG00000100970	ENST00000260630.3:c.1178G>T	2.37:g.38298319C>A	ENSP00000260630:p.Ser393Ile	NA	Q5TZW8|Q93089|Q9H316	37	CCDS1793.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240725	0.79912	.	.	ENSG00000138061	ENST00000260630;ENST00000407341	T;T	0.80033	-1.33;-1.33	5.85	4.97	0.65823	.	0.255155	0.50627	D	0.000108	D	0.90109	0.6910	M	0.85859	2.78	0.45250	D	0.99825	D	0.76494	0.999	D	0.76575	0.988	D	0.91609	0.5301	10	0.87932	D	0	.	14.1707	0.65508	0.1509:0.8491:0.0:0.0	.	393	Q53TK1	.	I	393	ENSP00000260630:S393I;ENSP00000384972:S393I	ENSP00000260630:S393I	S	-	2	0	CYP1B1	38151823	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.720000	0.61944	1.461000	0.47929	0.655000	0.94253	AGC	CYP1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000218580.3		-	ENST00000260630.3	Missense_Mutation	SNP	2 : 38298319 - 38298319 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	290	78
PROC	5624	broad.mit.edu	37	2	128186478	128186478	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128186478C>T	ENST00000234071.3	+	9	1429	c.1342C>T	c.(1342-1344)Cac>Tac	p.H448Y	PROC_ENST00000422777.3_Missense_Mutation_p.H448Y|PROC_ENST00000453608.2_Missense_Mutation_p.H503Y|PROC_ENST00000409048.1_Missense_Mutation_p.H482Y	NM_000312.3	NP_000303.1	P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	448	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GATCCATGGGCACATCAGAGA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TYR/HIS	1,4405		0,1,2202	87	87	87		1342	2.2	0.1	2		87	0,8600		0,0,4300	no	missense	PROC	NM_000312.3	83	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	benign	448/462	128186478	1,13005	2203	4300	6503	SO:0001583	missense			X02750	CCDS2145.1	2q13-q14	2014-01-30			ENSG00000115718	ENSG00000115718	5624	5624		Endogenous ligands	9451	protein-coding gene	gene with protein product	prepro-protein C	612283			NA	2991887, 2437584	Standard	NM_000312	NM_000312	NA	Approved		uc002tok.3	P04070	OTTHUMG00000131528	ENST00000234071.3:c.1342C>T	2.37:g.128186478C>T	ENSP00000234071:p.His448Tyr	NA	Q15189|Q15190|Q16001|Q53S74|Q9UC55	37	CCDS2145.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.500767	0.00157	2.27E-4	0.0	ENSG00000115718	ENST00000234071;ENST00000537436;ENST00000453608;ENST00000409048;ENST00000422777	D;D;D;D	0.92858	-3.12;-3.12;-3.12;-3.12	4.95	2.16	0.27623	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.160062	0.30043	N	0.010543	T	0.78541	0.4299	N	0.16833	0.445	0.22081	N	0.999379	B;B;B;B	0.19200	0.034;0.002;0.003;0.002	B;B;B;B	0.15052	0.012;0.002;0.005;0.002	T	0.62511	-0.6839	10	0.02654	T	1	.	4.0811	0.09927	0.2647:0.5:0.0:0.2353	.	503;504;482;448	B4DPQ7;B4DPQ3;E7END6;P04070	.;.;.;PROC_HUMAN	Y	448;407;503;482;448	ENSP00000234071:H448Y;ENSP00000404030:H503Y;ENSP00000386679:H482Y;ENSP00000409543:H448Y	ENSP00000234071:H448Y	H	+	1	0	PROC	127902948	0.020000	0.18652	0.120000	0.21714	0.004000	0.04260	0.079000	0.14782	0.280000	0.22209	0.655000	0.94253	CAC	PROC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254385.2		+	ENST00000234071.3	Missense_Mutation	SNP	2 : 128186478 - 128186478 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	877	203
MAGI3	260425	broad.mit.edu	37	1	114185035	114185035	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114185035A>C	ENST00000307546.9	+	10	1938	c.1863A>C	c.(1861-1863)gaA>gaC	p.E621D	MAGI3_ENST00000369615.1_Missense_Mutation_p.E621D|MAGI3_ENST00000369617.4_Missense_Mutation_p.E646D|MAGI3_ENST00000369611.4_Missense_Mutation_p.E621D	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	646	PDZ 3.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAATTAAGGAAATATACCATC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	101	100			NA	NA	1		NA											NA				114185035		2203	4300	6503	SO:0001583	missense			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026	260425	260425			29647	protein-coding gene	gene with protein product		615943			NA	10997877, 10748157	Standard	NM_152900	NM_152900	NA	Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.1863A>C	1.37:g.114185035A>C	ENSP00000304604:p.Glu621Asp	NA	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	37	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	A	15.42	2.827074	0.50739	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.47	0.0969	0.14492	.	0.000000	0.85682	D	0.000000	T	0.56645	0.1999	M	0.84948	2.725	0.80722	D	1	B;D;B	0.76494	0.048;0.999;0.092	B;D;B	0.71184	0.088;0.972;0.207	T	0.63368	-0.6653	10	0.87932	D	0	-25.6132	9.6773	0.40047	0.5907:0.0:0.4093:0.0	.	621;621;646	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	D	646;621;621;621	ENSP00000358630:E646D;ENSP00000304604:E621D;ENSP00000358628:E621D;ENSP00000358624:E621D	ENSP00000304604:E621D	E	+	3	2	MAGI3	113986558	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	2.656000	0.46716	0.128000	0.18479	0.455000	0.32223	GAA	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032429.1		+	ENST00000307546.9	Missense_Mutation	SNP	1 : 114185035 - 114185035 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	50
PCDHGA2	56113	broad.mit.edu	37	5	140720594	140720594	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140720594G>A	ENST00000394576.2	+	1	2056	c.2056G>A	c.(2056-2058)Gat>Aat	p.D686N	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1			protocadherin gamma subfamily A, 2	NA										breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATACCCAACGATTCGGACCT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,ASN/ASP,ASN/ASP	1,4405		0,1,2202	106	112	110		,2056,2056	3.2	0	5		110	0,8596		0,0,4298	no	intron,missense,missense	PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_032009.1	,23,23	0,1,6500	AA,AG,GG	NA	0.0,0.0227,0.0077	,,	,686/933,686/824	140720594	1,13001	2203	4298	6501	SO:0001583	missense			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853	56113	56113		Cadherins / Protocadherins : Clustered	8700	other	protocadherin		606289			NA	10380929	Standard	NM_018915	NM_018915	NA	Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2056G>A	5.37:g.140720594G>A	ENSP00000378077:p.Asp686Asn	NA		37	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	9.710	1.156808	0.21454	2.27E-4	0.0	ENSG00000081853	ENST00000394576	T	0.48201	0.82	5.05	3.24	0.37175	.	0.543864	0.14979	U	0.287378	T	0.32496	0.0831	L	0.39326	1.205	0.09310	N	1	B;B	0.15473	0.013;0.007	B;B	0.15484	0.013;0.004	T	0.20773	-1.0265	10	0.30078	T	0.28	.	2.4419	0.04497	0.1658:0.1505:0.5281:0.1556	.	686;686	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	N	686	ENSP00000378077:D686N	ENSP00000378077:D686N	D	+	1	0	PCDHGA2	140700778	0.006000	0.16342	0.000000	0.03702	0.006000	0.05464	1.852000	0.39348	0.641000	0.30601	-0.515000	0.04445	GAT	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374738.1		+	ENST00000394576.2	Missense_Mutation	SNP	5 : 140720594 - 140720594 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	953	208
ZNF808	388558	broad.mit.edu	37	19	53057635	53057635	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53057635G>A	ENST00000359798.4	+	5	1646	c.1466G>A	c.(1465-1467)cGc>cAc	p.R489H		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AATGAGTGTCGCAAGACCTTC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	89	87			NA	NA	19		NA											NA				53057635		2203	4300	6503	SO:0001583	missense			CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482	388558	388558		Zinc fingers, C2H2-type, -	33230	protein-coding gene	gene with protein product					NA		Standard	NM_001039886	NM_001039886	NA	Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.1466G>A	19.37:g.53057635G>A	ENSP00000352846:p.Arg489His	NA	Q68CN7	37	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	6.792	0.515038	0.12944	.	.	ENSG00000198482	ENST00000359798	T	0.14893	2.47	1.5	0.355	0.16069	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09598	0.0236	N	0.12961	0.28	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30238	-0.9985	9	0.72032	D	0.01	.	6.9106	0.24333	0.1648:0.0:0.8352:0.0	.	489	Q8N4W9	ZN808_HUMAN	H	489	ENSP00000352846:R489H	ENSP00000352846:R489H	R	+	2	0	ZNF808	57749447	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.455000	0.06762	-0.020000	0.14032	-1.098000	0.02139	CGC	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350447.3		+	ENST00000359798.4	Missense_Mutation	SNP	19 : 53057635 - 53057635 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	612	42
ADH6	130	broad.mit.edu	37	4	100128629	100128629	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100128629C>T	ENST00000394899.2	-	7	1031	c.938G>A	c.(937-939)cGt>cAt	p.R313H	ADH6_ENST00000407820.2_Missense_Mutation_p.R104H|ADH6_ENST00000394897.1_Intron|ADH6_ENST00000237653.7_Missense_Mutation_p.R313H|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA	NM_001102470.1	NP_001095940	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	313					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	CTTCAAAGAACGTCCTGAGAA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	135	131	133		938,938	3	0.4	4		133	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ADH6	NM_000672.3,NM_001102470.1	29,29	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging	313/369,313/376	100128629	1,13005	2203	4300	6503	SO:0001583	missense			AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	130	130	1.1.1.1	Alcohol dehydrogenases	255	protein-coding gene	gene with protein product		103735			NA	1881901	Standard	NM_000672	NM_000672	NA	Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000394899.2:c.938G>A	4.37:g.100128629C>T	ENSP00000378359:p.Arg313His	NA	B3KS45|Q58F53	37	CCDS43255.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945042	0.53079	0.0	1.16E-4	ENSG00000172955	ENST00000394899;ENST00000407820;ENST00000237653;ENST00000508558	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	3.8	2.95	0.34219	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.132384	0.48286	D	0.000186	T	0.46210	0.1381	M	0.90198	3.095	0.80722	D	1	D;P;D	0.89917	0.999;0.901;1.0	D;B;D	0.79108	0.949;0.308;0.992	T	0.53697	-0.8402	10	0.87932	D	0	-8.4352	11.3605	0.49640	0.0:0.9083:0.0:0.0917	.	190;313;313	B4DPD8;P28332;P28332-2	.;ADH6_HUMAN;.	H	313;104;313;249	ENSP00000378359:R313H;ENSP00000384997:R104H;ENSP00000237653:R313H;ENSP00000426187:R249H	ENSP00000237653:R313H	R	-	2	0	ADH6	100347652	0.998000	0.40836	0.403000	0.26384	0.171000	0.22731	4.432000	0.59922	0.698000	0.31739	0.563000	0.77884	CGT	ADH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253663.2		-	ENST00000394899.2	Missense_Mutation	SNP	4 : 100128629 - 100128629 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	524	82
ZNF318	24149	broad.mit.edu	37	6	43305787	43305787	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43305787T>C	ENST00000361428.2	-	10	6026	c.5949A>G	c.(5947-5949)caA>caG	p.Q1983Q	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1983					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GATGGACATCTTGTAGCTCCA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	123	123			NA	NA	6		NA											NA				43305787		2203	4300	6503	SO:0001819	synonymous_variant			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467	24149	24149		Zinc fingers, C2H2-type	13578	protein-coding gene	gene with protein product					NA	10873617	Standard	NM_014345	NM_014345	NA	Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.5949A>G	6.37:g.43305787T>C		NA	O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	37	CCDS4895.2																																																																																			ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040601.2		-	ENST00000361428.2	Silent	SNP	6 : 43305787 - 43305787 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	662	164
CACNA1G	8913	broad.mit.edu	37	17	48703937	48703937	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48703937G>A	ENST00000352832.5	+	34	6950	c.6578G>A	c.(6577-6579)gGt>gAt	p.G2193D	CACNA1G_ENST00000512389.1_Missense_Mutation_p.G2216D|CACNA1G_ENST00000354983.4_Missense_Mutation_p.G2286D|CACNA1G_ENST00000507336.1_Missense_Mutation_p.G2309D|CACNA1G_ENST00000358244.5_Missense_Mutation_p.G2114D|CACNA1G_ENST00000360761.4_Missense_Mutation_p.G2204D|CACNA1G_ENST00000510366.1_Missense_Mutation_p.G2175D|CACNA1G_ENST00000514181.1_Missense_Mutation_p.G2202D|CACNA1G_ENST00000514079.1_Missense_Mutation_p.G2234D|CACNA1G_ENST00000429973.2_Missense_Mutation_p.G2209D|CACNA1G_ENST00000510115.1_Missense_Mutation_p.G2241D|CACNA1G_ENST00000507896.1_Missense_Mutation_p.G2137D|CACNA1G_ENST00000515165.1_Missense_Mutation_p.G2227D|CACNA1G_ENST00000514717.1_Missense_Mutation_p.G2170D|CACNA1G_ENST00000507510.2_Missense_Mutation_p.G2275D|CACNA1G_ENST00000359106.5_Missense_Mutation_p.G2320D|CACNA1G_ENST00000503485.1_Missense_Mutation_p.G2193D|CACNA1G_ENST00000502264.1_Missense_Mutation_p.G2249D|CACNA1G_ENST00000442258.2_Missense_Mutation_p.G2186D|CACNA1G_ENST00000513689.2_Missense_Mutation_p.G2230D|CACNA1G_ENST00000513964.1_Missense_Mutation_p.G2182D|CACNA1G_ENST00000505165.1_Missense_Mutation_p.G2148D|CACNA1G_ENST00000515411.1_Missense_Mutation_p.G2257D|CACNA1G_ENST00000515765.1_Missense_Mutation_p.G2264D|CACNA1G_ENST00000507609.1_Missense_Mutation_p.G2220D	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2320					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GAGAGCCAAGGTCCTCGGACC	0.667		NA									OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	22	21			NA	NA	17		NA											NA				48703937		1842	4071	5913	SO:0001583	missense			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283	8913	8913		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1394	protein-coding gene	gene with protein product		604065			NA	9495342, 16382099	Standard	NM_018896	NM_001256334	NA	Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000352832.5:c.6578G>A	17.37:g.48703937G>A	ENSP00000339302:p.Gly2193Asp	956	O43498|O94770|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	37	CCDS45735.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451879	0.43531	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.5	5.5	0.81552	.	0.838841	0.10943	N	0.617055	T	0.57417	0.2052	L	0.59436	1.845	0.35367	D	0.788757	D;P;P;D;D;D;D;P;D;B;B;D;B;B;D;P;P;D;D;P;D;D;D;D;D	0.89917	1.0;0.913;0.907;1.0;0.997;0.997;1.0;0.895;1.0;0.02;0.02;0.995;0.437;0.019;0.999;0.729;0.949;1.0;0.991;0.57;1.0;0.997;0.997;0.978;1.0	D;P;P;D;D;D;D;P;D;B;B;D;B;B;D;B;P;D;P;B;D;D;P;P;D	0.91635	0.998;0.517;0.722;0.999;0.947;0.96;0.999;0.652;0.999;0.012;0.012;0.948;0.119;0.012;0.971;0.334;0.829;0.998;0.889;0.25;0.998;0.947;0.907;0.719;0.997	T	0.61978	-0.6951	10	0.87932	D	0	.	19.3874	0.94563	0.0:0.0:1.0:0.0	.	2170;2182;2175;2257;2230;2202;2234;2193;2220;2137;2148;2249;2216;2309;2209;2264;2227;2297;2275;2193;2186;2241;2204;2320;2114	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	D	2204;2193;2286;2186;2249;2216;2182;2170;2175;2193;2275;2309;2230;2220;2241;2227;2202;2264;2234;2114;2320;2209;2257;2148;2137	ENSP00000353990:G2204D;ENSP00000339302:G2193D;ENSP00000347078:G2286D;ENSP00000409759:G2186D;ENSP00000425522:G2249D;ENSP00000426261:G2216D;ENSP00000425451:G2182D;ENSP00000422407:G2170D;ENSP00000426814:G2175D;ENSP00000427238:G2193D;ENSP00000423112:G2275D;ENSP00000420918:G2309D;ENSP00000426172:G2230D;ENSP00000423045:G2220D;ENSP00000427173:G2241D;ENSP00000426098:G2227D;ENSP00000425698:G2202D;ENSP00000426232:G2264D;ENSP00000423317:G2234D;ENSP00000350979:G2114D;ENSP00000352011:G2320D;ENSP00000414388:G2209D;ENSP00000423155:G2257D;ENSP00000422268:G2148D;ENSP00000421518:G2137D	ENSP00000339302:G2193D	G	+	2	0	CACNA1G	46058936	1.000000	0.71417	0.980000	0.43619	0.300000	0.27592	5.458000	0.66679	2.590000	0.87494	0.561000	0.74099	GGT	CACNA1G-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367893.2		+	ENST00000352832.5	Missense_Mutation	SNP	17 : 48703937 - 48703937 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	116	19
PAQR4	124222	broad.mit.edu	37	16	3021850	3021850	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3021850G>A	ENST00000572687.1	+	2	618	c.501G>A	c.(499-501)caG>caA	p.Q167Q	PAQR4_ENST00000574988.1_Silent_p.Q174Q|PAQR4_ENST00000576565.1_Silent_p.Q174Q|PAQR4_ENST00000318782.8_Silent_p.Q241Q|PAQR4_ENST00000293978.8_Silent_p.Q202Q|PKMYT1_ENST00000431515.2_Intron	NM_001284512.1	NP_001271441.1	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	241						integral to membrane	receptor activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						ACTCCCACCAGATCATGCACC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	43	42			NA	NA	16		NA											NA				3021850		2197	4300	6497	SO:0001819	synonymous_variant				CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073	124222	124222			26386	protein-coding gene	gene with protein product		614578			NA	12477932	Standard	NM_152341	XM_005255112	NA	Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000572687.1:c.501G>A	16.37:g.3021850G>A		NA	A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	37																																																																																				PAQR4-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000436739.1		+	ENST00000572687.1	Silent	SNP	16 : 3021850 - 3021850 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	64
AKR1B15	441282	broad.mit.edu	37	7	134252965	134252965	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134252965G>A	ENST00000457545.2	+	4	466	c.206G>A	c.(205-207)cGc>cAc	p.R69H	AKR1B15_ENST00000423958.1_Missense_Mutation_p.R41H	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	69							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						GCAGAATATCGCCACATTGAC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	106	105			NA	NA	7		NA											NA				134252965		2203	4300	6503	SO:0001583	missense				CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471	441282	441282		Aldo-keto reductases	37281	protein-coding gene	gene with protein product					NA		Standard		NM_001080538	NA	Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.206G>A	7.37:g.134252965G>A	ENSP00000389289:p.Arg69His	NA	C9J3V2	37	CCDS47715.2	.	.	.	.	.	.	.	.	.	.	-	11.75	1.732917	0.30684	.	.	ENSG00000227471	ENST00000457545;ENST00000423958	T;T	0.28255	1.62;1.62	2.96	1.07	0.20283	NADP-dependent oxidoreductase domain (3);	.	.	.	.	T	0.34279	0.0892	M	0.87758	2.905	0.44754	D	0.99775	B;B;B	0.30281	0.078;0.275;0.058	B;B;B	0.26517	0.013;0.07;0.021	T	0.16129	-1.0413	9	0.62326	D	0.03	.	6.9252	0.24412	0.2502:0.0:0.7498:0.0	.	41;69;41	C9JRZ8-2;C9JRZ8;A4D1P0	.;AK1BF_HUMAN;.	H	69;41	ENSP00000389289:R69H;ENSP00000397009:R41H	ENSP00000397009:R41H	R	+	2	0	AKR1B15	133903505	0.975000	0.34042	0.031000	0.17742	0.060000	0.15804	4.974000	0.63771	0.114000	0.18032	-0.358000	0.07595	CGC	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339726.2		+	ENST00000457545.2	Missense_Mutation	SNP	7 : 134252965 - 134252965 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	467	93
SPATA5	166378	broad.mit.edu	37	4	124177183	124177183	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:124177183C>T	ENST00000274008.4	+	15	2422	c.2353C>T	c.(2353-2355)Cct>Tct	p.P785S		NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	NA					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TTTGATGCGGCCTGGAAGAAT	0.408		NA											C	2	9e-04	NA	NA	2184	NA	0.9996	,	,	NA	3e-04	0.0026	NA	NA	7e-04	0.8498	EXOME	NA	NA	4e-04	SNP								NA				0													132	121	125			NA	NA	4		NA											NA				124177183		2203	4300	6503	SO:0001583	missense			AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375	166378	166378		ATPases / AAA-type	18119	protein-coding gene	gene with protein product	ATPase family gene 2 homolog (S. cerevisiae)	613940			NA	16465403	Standard	NM_145207	NM_145207	NA	Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.2353C>T	4.37:g.124177183C>T	ENSP00000274008:p.Pro785Ser	NA	C9JT97|Q86XW1|Q8NI20|Q8TDL7	37	CCDS3730.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	19.26	3.794047	0.70452	.	.	ENSG00000145375	ENST00000274008	D	0.95588	-3.75	4.57	4.57	0.56435	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.64402	D	0.000003	D	0.96824	0.8963	L	0.55103	1.725	0.58432	D	0.999995	D	0.62365	0.991	D	0.70935	0.971	D	0.97492	1.0054	10	0.72032	D	0.01	-19.9527	17.5624	0.87910	0.0:1.0:0.0:0.0	.	785	Q8NB90	SPAT5_HUMAN	S	785	ENSP00000274008:P785S	ENSP00000274008:P785S	P	+	1	0	SPATA5	124396633	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	6.535000	0.73838	2.369000	0.80426	0.467000	0.42956	CCT	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256714.2		+	ENST00000274008.4	Missense_Mutation	SNP	4 : 124177183 - 124177183 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	48
GBA2	57704	broad.mit.edu	37	9	35739666	35739666	+	Missense_Mutation	SNP	C	C	T	rs148982744		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35739666C>T	ENST00000378094.4	-	9	2054	c.1541G>A	c.(1540-1542)cGc>cAc	p.R514H	GBA2_ENST00000378103.3_Missense_Mutation_p.R514H|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000545786.1_Missense_Mutation_p.R520H			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	514					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TAGGGTGGGGCGGAGGTGACA	0.552		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	74	62	66		1541	0.1	0.3	9	dbSNP_134	66	1,8599	1.2+/-3.3	0,1,4299	no	missense	GBA2	NM_020944.2	29	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	514/928	35739666	1,13005	2203	4300	6503	SO:0001583	missense			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610	57704	57704			18986	protein-coding gene	gene with protein product	bile acid beta-glucosidase, non-lysosomal glucosylceramidase	609471	spastic paraplegia 46 (autosomal recessive)	SPG46	NA	11489889, 23332916, 23332917	Standard	NM_020944	NM_020944	NA	Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378094.4:c.1541G>A	9.37:g.35739666C>T	ENSP00000367334:p.Arg514His	NA	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	37		.	.	.	.	.	.	.	.	.	.	C	6.068	0.380813	0.11466	0.0	1.16E-4	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	5.5	0.104	0.14531	Six-hairpin glycosidase-like (1);	0.226574	0.44688	N	0.000428	T	0.16981	0.0408	L	0.36672	1.1	0.19300	N	0.999976	B;D;B	0.55385	0.002;0.971;0.001	B;B;B	0.41571	0.001;0.36;0.0	T	0.16012	-1.0417	9	0.41790	T	0.15	-0.8058	1.4704	0.02414	0.1622:0.3204:0.1134:0.404	.	520;514;514	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	H	514;514;520	.	ENSP00000367334:R514H	R	-	2	0	GBA2	35729666	0.635000	0.27199	0.295000	0.24960	0.003000	0.03518	0.345000	0.19979	0.081000	0.16988	-1.242000	0.01536	CGC	GBA2-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000055458.1		-	ENST00000378094.4	Missense_Mutation	SNP	9 : 35739666 - 35739666 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	235	26
TECR	9524	broad.mit.edu	37	19	14676616	14676616	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14676616G>A	ENST00000600083.1	+	13	1028	c.395G>A	c.(394-396)cGc>cAc	p.R132H	TECR_ENST00000436007.2_Missense_Mutation_p.R302H|TECR_ENST00000596073.1_Missense_Mutation_p.R132H|TECR_ENST00000215567.5_Missense_Mutation_p.R287H			Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	287					fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity			endometrium(1)|large_intestine(1)|ovary(1)	3						GGCAAGCACCGCAGCTACCTG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	15	15			NA	NA	19		NA											NA				14676616		2192	4285	6477	SO:0001583	missense			AK001416	CCDS12313.1	19p13.12	2014-05-27	2009-07-21	2009-07-21	ENSG00000099797	ENSG00000099797	9524	9524			4551	protein-coding gene	gene with protein product		610057	glycoprotein, synaptic 2	SC2, GPSN2	NA	9653160, 12482854	Standard	NM_138501	NM_138501	NA	Approved	TER, MRT14	uc002mza.3	Q9NZ01		ENST00000600083.1:c.395G>A	19.37:g.14676616G>A	ENSP00000472114:p.Arg132His	NA	B2RD55|O75350|Q6IBB2|Q9BWK3|Q9Y6P0	37		.	.	.	.	.	.	.	.	.	.	G	16.64	3.180606	0.57800	.	.	ENSG00000099797	ENST00000215567;ENST00000436007	T;T	0.30981	1.51;1.51	4.67	4.67	0.58626	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.38825	0.1055	M	0.82323	2.585	0.80722	D	1	B;B;B	0.27140	0.058;0.169;0.058	B;B;B	0.19946	0.027;0.027;0.027	T	0.43877	-0.9364	10	0.62326	D	0.03	-19.4336	15.0436	0.71811	0.0:0.0:1.0:0.0	.	287;302;287	B3KM97;B3KSQ1;Q9NZ01	.;.;TECR_HUMAN	H	287;302	ENSP00000215567:R287H;ENSP00000397206:R302H	ENSP00000215567:R287H	R	+	2	0	TECR	14537616	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.225000	0.78051	2.158000	0.67659	0.289000	0.19496	CGC	TECR-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000466003.1		+	ENST00000600083.1	Missense_Mutation	SNP	19 : 14676616 - 14676616 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	140	23
CCNJ	54619	broad.mit.edu	37	10	97817750	97817750	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97817750C>T	ENST00000265992.5	+	6	1238	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C	CCNJ_ENST00000465148.2_Missense_Mutation_p.R302C|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000427846.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|CCNJ_ENST00000403870.3_Missense_Mutation_p.R290C|ENTPD1-AS1_ENST00000452728.1_RNA|CCNJ_ENST00000534974.1_Missense_Mutation_p.R291C	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J	291						nucleus				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		ACTGCAGTATCGCCATCCTAC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													306	256	273			NA	NA	10		NA											NA				97817750		2203	4300	6503	SO:0001583	missense			AK001757	CCDS7445.1, CCDS44462.1, CCDS44463.1	10q23.33	2008-05-14			ENSG00000107443	ENSG00000107443	54619	54619			23434	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_019084	NM_019084	NA	Approved	FLJ10895, bA690P14.1	uc010qoq.2	Q5T5M9	OTTHUMG00000018823	ENST00000265992.5:c.871C>T	10.37:g.97817750C>T	ENSP00000265992:p.Arg291Cys	NA	B7Z4E7|Q86XL1|Q9NV69	37	CCDS7445.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.230083	0.39399	.	.	ENSG00000107443	ENST00000265992;ENST00000419934;ENST00000403870;ENST00000534974	T;T;T	0.46063	0.88;1.47;0.88	5.5	5.5	0.81552	.	0.284824	0.39687	N	0.001287	T	0.24392	0.0591	N	0.08118	0	0.45284	D	0.998287	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.05419	-1.0886	10	0.39692	T	0.17	-12.6063	12.6537	0.56776	0.0:0.92:0.0:0.08	.	302;290;291	Q5T5M9-3;Q5T5M9-2;Q5T5M9	.;.;CCNJ_HUMAN	C	291;302;290;291	ENSP00000265992:R291C;ENSP00000384498:R290C;ENSP00000441415:R291C	ENSP00000265992:R291C	R	+	1	0	CCNJ	97807740	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.381000	0.44336	2.744000	0.94065	0.655000	0.94253	CGC	CCNJ-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090166.3		+	ENST00000265992.5	Missense_Mutation	SNP	10 : 97817750 - 97817750 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	812	166
SLC16A7	9194	broad.mit.edu	37	12	60169243	60169243	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:60169243C>T	ENST00000261187.4	+	4	1331	c.1167C>T	c.(1165-1167)ggC>ggT	p.G389G	SLC16A7_ENST00000547379.1_Silent_p.G389G|SLC16A7_ENST00000552024.1_Silent_p.G389G|SLC16A7_ENST00000543448.1_Silent_p.G290G|SLC16A7_ENST00000552432.1_Silent_p.G389G	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	389						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	TTCTTCTTGGCCCTCCTCTTG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	71	73			NA	NA	12		NA											NA				60169243		2203	4300	6503	SO:0001819	synonymous_variant			AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596	9194	9194		Solute carriers	10928	protein-coding gene	gene with protein product		603654	solute carrier family 16 (monocarboxylic acid transporters), member 7		NA	9786900	Standard	NM_004731	NM_004731	NA	Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.1167C>T	12.37:g.60169243C>T		NA	Q9UPB3	37	CCDS8961.1																																																																																			SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406587.1		+	ENST00000261187.4	Silent	SNP	12 : 60169243 - 60169243 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	389	54
UNC5C	8633	broad.mit.edu	37	4	96163662	96163662	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96163662C>T	ENST00000506749.1	-	7	1374	c.1026G>A	c.(1024-1026)gcG>gcA	p.A342A	UNC5C_ENST00000453304.1_Silent_p.A342A			O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	342	TSP type-1 2.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGGGGGCTGGCGCCGTGCACT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	40	43			NA	NA	4		NA											NA				96163662		2203	4300	6503	SO:0001819	synonymous_variant			AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168	8633	8633		Immunoglobulin superfamily / I-set domain containing	12569	protein-coding gene	gene with protein product		603610	unc5 (C.elegans homolog) c		NA	9126742, 9782087	Standard	NM_003728	NM_003728	NA	Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000506749.1:c.1026G>A	4.37:g.96163662C>T		NA	Q8IUT0	37																																																																																				UNC5C-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000363048.2		-	ENST00000506749.1	Silent	SNP	4 : 96163662 - 96163662 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	129	21
HHIPL1	84439	broad.mit.edu	37	14	100119107	100119107	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100119107G>A	ENST00000330710.5	+	2	900	c.802G>A	c.(802-804)Gtc>Atc	p.V268I	HHIPL1_ENST00000357223.2_Missense_Mutation_p.V268I	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	268					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	p.V268I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CAGGCTCTACGTCTACTACTC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											48	38	41			NA	NA	14		NA											NA				100119107		2203	4300	6503	SO:0001583	missense			AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218	84439	84439			19710	protein-coding gene	gene with protein product			KIAA1822	KIAA1822	NA		Standard	XM_041566	NM_032425	NA	Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.802G>A	14.37:g.100119107G>A	ENSP00000330601:p.Val268Ile	NA	A2RUF8|B2RN09|Q6UXX2	37	CCDS45162.1	.	.	.	.	.	.	.	.	.	.	g	16.30	3.085047	0.55861	.	.	ENSG00000182218	ENST00000330710;ENST00000357223	T;T	0.14266	2.52;2.52	4.59	3.7	0.42460	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.074462	0.53938	N	0.000051	T	0.14614	0.0353	L	0.28344	0.845	0.49389	D	0.999785	D;P	0.57257	0.979;0.831	P;B	0.51895	0.683;0.267	T	0.06373	-1.0830	10	0.20046	T	0.44	.	12.6027	0.56506	0.081:0.0:0.919:0.0	.	268;268	Q96JK4;Q96JK4-2	HIPL1_HUMAN;.	I	268	ENSP00000330601:V268I;ENSP00000349757:V268I	ENSP00000330601:V268I	V	+	1	0	HHIPL1	99188860	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	6.752000	0.74898	0.919000	0.36945	-0.140000	0.14226	GTC	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413811.1		+	ENST00000330710.5	Missense_Mutation	SNP	14 : 100119107 - 100119107 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	221	53
NDRG4	65009	broad.mit.edu	37	16	58538164	58538164	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58538164G>A	ENST00000568640.1	+	3	430	c.288G>A	c.(286-288)tcG>tcA	p.S96S	NDRG4_ENST00000356752.4_Silent_p.S108S|NDRG4_ENST00000570248.1_Silent_p.S78S|NDRG4_ENST00000563799.1_Silent_p.S96S|NDRG4_ENST00000566192.1_Silent_p.S78S|NDRG4_ENST00000258187.5_Silent_p.S110S|NDRG4_ENST00000394279.2_Silent_p.S110S|NDRG4_ENST00000569923.1_Silent_p.S23S|NDRG4_ENST00000562999.1_Silent_p.S78S|NDRG4_ENST00000394282.4_Silent_p.S130S			Q9ULP0	NDRG4_HUMAN	NDRG family member 4	78					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						TGGGGGCGTCGCAGTTTCCTC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,,,,,,	0,4396		0,0,2198	97	101	100		390,324,288,234,234,330,330	-10.7	0.4	16		100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NDRG4	NM_001130487.1,NM_001242833.1,NM_001242834.1,NM_001242835.1,NM_001242836.1,NM_020465.3,NM_022910.3	,,,,,,	0,1,6497	AA,AG,GG	NA	0.0116,0.0,0.0077	,,,,,,	130/392,108/370,96/358,78/353,78/340,110/372,110/372	58538164	1,12995	2198	4300	6498	SO:0001819	synonymous_variant			AB044947	CCDS10797.1, CCDS45500.1, CCDS55999.1, CCDS58465.1, CCDS58466.1, CCDS58467.1	16q21-q22.3	2008-07-04			ENSG00000103034	ENSG00000103034	65009	65009			14466	protein-coding gene	gene with protein product		614463			NA	11352569, 16408304	Standard		NM_020465	NA	Approved	KIAA1180, SMAP-8	uc002enk.3	Q9ULP0	OTTHUMG00000133485	ENST00000568640.1:c.288G>A	16.37:g.58538164G>A		NA	B3KNU2|Q6ZNE7|Q6ZTI7|Q96PL9|Q9GZM1|Q9GZN3|Q9GZX0	37	CCDS58465.1																																																																																			NDRG4-006	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000422667.3		+	ENST00000568640.1	Silent	SNP	16 : 58538164 - 58538164 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	776	131
BTD	686	broad.mit.edu	37	3	15677047	15677047	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15677047A>G	ENST00000437172.1	+	4	399	c.167A>G	c.(166-168)gAg>gGg	p.E56G	BTD_ENST00000482824.1_3'UTR|BTD_ENST00000449107.1_Missense_Mutation_p.E56G|BTD_ENST00000383778.4_Missense_Mutation_p.E34G|BTD_ENST00000303498.5_Missense_Mutation_p.E54G	NM_001281724.1	NP_001268653.1	P43251	BTD_HUMAN	biotinidase	54					central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						GACCATCACGAGGCTGAATAT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	124	127			NA	NA	3		NA											NA				15677047		2203	4300	6503	SO:0001583	missense			AF018631	CCDS2628.1, CCDS63563.1, CCDS63564.1, CCDS63565.1	3p25	2007-03-26			ENSG00000169814	ENSG00000169814	686	686	3.5.1.12		1122	protein-coding gene	gene with protein product		609019			NA	8001986	Standard	NM_000060	NM_001281723	NA	Approved		uc003cah.3	P43251	OTTHUMG00000129861	ENST00000437172.1:c.167A>G	3.37:g.15677047A>G	ENSP00000400995:p.Glu56Gly	NA	B2R865|Q96EM9	37		.	.	.	.	.	.	.	.	.	.	A	4.238	0.043137	0.08196	.	.	ENSG00000169814	ENST00000427382;ENST00000449107;ENST00000303498;ENST00000437172;ENST00000436193;ENST00000383778	D;D;D;D;D;D	0.95980	-3.87;-2.55;-2.55;-2.56;-2.29;-2.53	3.24	-2.28	0.06826	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (1);	0.973243	0.08477	N	0.940113	D	0.85221	0.5647	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.73272	-0.4035	10	0.49607	T	0.09	-6.354	0.1601	0.00102	0.3777:0.1765:0.2144:0.2313	.	56;56;54	A6NHF2;B4DLJ9;P43251	.;.;BTD_HUMAN	G	34;56;54;56;34;34	ENSP00000397113:E34G;ENSP00000388212:E56G;ENSP00000306477:E54G;ENSP00000400995:E56G;ENSP00000394277:E34G;ENSP00000373288:E34G	ENSP00000306477:E54G	E	+	2	0	BTD	15652051	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.261000	0.18442	-0.453000	0.07076	0.454000	0.30748	GAG	BTD-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000342875.1		+	ENST00000437172.1	Missense_Mutation	SNP	3 : 15677047 - 15677047 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	711	138
NAT8L	339983	broad.mit.edu	37	4	2065708	2065708	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2065708G>A	ENST00000331662.3	+	3	463	c.259G>A	c.(259-261)Gcc>Acc	p.A87T	NAT8L_ENST00000423729.2_Missense_Mutation_p.A255T			Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related, putative)	255						integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane	aspartate N-acetyltransferase activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			CAAGGTGGCCGCCCACAAGCT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	37	38			NA	NA	4		NA											NA				2065708		2197	4298	6495	SO:0001583	missense			AK094797	CCDS3359.1, CCDS3359.2	4p16.3	2011-11-16	2008-09-24		ENSG00000185818	ENSG00000185818	339983	339983			26742	protein-coding gene	gene with protein product		610647	N-acetyltransferase 8-like		NA	11397015	Standard	NM_178557	NM_178557	NA	Approved	FLJ37478, Hcml3	uc003geq.2	Q8N9F0	OTTHUMG00000121151	ENST00000331662.3:c.259G>A	4.37:g.2065708G>A	ENSP00000328464:p.Ala87Thr	NA		37		.	.	.	.	.	.	.	.	.	.	G	36	5.880837	0.97062	.	.	ENSG00000185818	ENST00000423729;ENST00000331662	T;T	0.37235	1.21;1.21	5.31	5.31	0.75309	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	U	0.000000	T	0.68796	0.3040	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76323	-0.3001	10	0.87932	D	0	-0.0397	18.5588	0.91093	0.0:0.0:1.0:0.0	.	255	Q8N9F0	NAT8L_HUMAN	T	255;87	ENSP00000413064:A255T;ENSP00000328464:A87T	ENSP00000328464:A87T	A	+	1	0	NAT8L	2035506	1.000000	0.71417	0.999000	0.59377	0.929000	0.56500	9.634000	0.98435	2.484000	0.83849	0.457000	0.33378	GCC	NAT8L-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000241636.3		+	ENST00000331662.3	Missense_Mutation	SNP	4 : 2065708 - 2065708 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	182	30
FBXO38	81545	broad.mit.edu	37	5	147820025	147820025	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147820025G>A	ENST00000340253.5	+	20	3377	c.3209G>A	c.(3208-3210)cGa>cAa	p.R1070Q	FBXO38_ENST00000394370.3_Missense_Mutation_p.R995Q|FBXO38_ENST00000296701.6_Missense_Mutation_p.R825Q|FBXO38_ENST00000513826.1_Missense_Mutation_p.R825Q			Q6PIJ6	FBX38_HUMAN	F-box protein 38	1070						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGCCACTCGAAGTGAAGAA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	47	46			NA	NA	5		NA											NA				147820025		2202	4300	6502	SO:0001583	missense			BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868	81545	81545		F-boxes /  other	28844	protein-coding gene	gene with protein product		608533			NA	12477932	Standard	NM_030793	NM_030793	NA	Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.3209G>A	5.37:g.147820025G>A	ENSP00000342023:p.Arg1070Gln	NA	Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	37		.	.	.	.	.	.	.	.	.	.	G	34	5.354128	0.95830	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.39787	1.06;1.16;1.13;1.16	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.55721	0.1938	L	0.32530	0.975	0.32900	D	0.513013	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.83275	0.947;0.994;0.996	T	0.61898	-0.6968	10	0.48119	T	0.1	-7.3358	18.2978	0.90153	0.0:0.0:1.0:0.0	.	825;995;1070	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	Q	1070;825;995;825	ENSP00000342023:R1070Q;ENSP00000296701:R825Q;ENSP00000377895:R995Q;ENSP00000426410:R825Q	ENSP00000296701:R825Q	R	+	2	0	FBXO38	147800218	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.423000	0.97461	2.670000	0.90874	0.467000	0.42956	CGA	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000252185.2		+	ENST00000340253.5	Missense_Mutation	SNP	5 : 147820025 - 147820025 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	64
THNSL2	55258	broad.mit.edu	37	2	88485522	88485522	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88485522G>A	ENST00000449349.1	+	0	993				THNSL2_ENST00000324166.5_Silent_p.E445E|THNSL2_ENST00000358591.2_Silent_p.E445E|THNSL2_ENST00000377254.3_3'UTR|THNSL2_ENST00000343544.4_3'UTR|THNSL2_ENST00000496844.1_3'UTR			Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	NA					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						TAGCCCTGGAGCACAAGGAGA	0.632		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	2		NA											NA				88485522		2195	4283	6478	SO:0001624	3_prime_UTR_variant				CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115	55258	55258			25602	protein-coding gene	gene with protein product		611261			NA	17034760	Standard	NM_018271	NM_018271	NA	Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000449349.1:c.*35G>A	2.37:g.88485522G>A		NA	B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	37																																																																																				THNSL2-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000338223.1		+	ENST00000449349.1	3'UTR	SNP	2 : 88485522 - 88485522 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	80	24
KISS1	3814	broad.mit.edu	37	1	204159862	204159862	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204159862C>T	ENST00000367194.4	-	3	315	c.167G>A	c.(166-168)aGg>aAg	p.R56K		NM_002256.3	NP_002247.3	Q15726	KISS1_HUMAN	KiSS-1 metastasis-suppressor	56					cytoskeleton organization	extracellular region	protein binding			large_intestine(1)|lung(1)|ovary(1)	3	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)		AGCTGGCTTCCTCTCGGTGCA	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													9	11	10			NA	NA	1		NA											NA				204159862		1448	3383	4831	SO:0001583	missense			U43527	CCDS41454.1	1q32	2014-01-30			ENSG00000170498	ENSG00000170498	3814	3814		Endogenous ligands	6341	protein-coding gene	gene with protein product	prepro-kisspeptin, kisspeptin	603286			NA	9192814, 9806840	Standard	NM_002256	NM_002256	NA	Approved		uc001har.3	Q15726	OTTHUMG00000036060	ENST00000367194.4:c.167G>A	1.37:g.204159862C>T	ENSP00000356162:p.Arg56Lys	NA	A8K6N0|Q9HBP1	37	CCDS41454.1	.	.	.	.	.	.	.	.	.	.	C	5.714	0.316310	0.10789	.	.	ENSG00000170498	ENST00000367194	T	0.79653	-1.29	4.13	-2.12	0.07165	.	1.205720	0.06169	N	0.677340	T	0.64505	0.2604	L	0.36672	1.1	0.09310	N	1	B	0.14012	0.009	B	0.06405	0.002	T	0.46762	-0.9168	10	0.06891	T	0.86	-0.7887	4.1234	0.10116	0.0:0.2389:0.3513:0.4098	.	56	Q15726	KISS1_HUMAN	K	56	ENSP00000356162:R56K	ENSP00000356162:R56K	R	-	2	0	KISS1	202426485	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.052000	0.11865	-0.284000	0.09102	-0.165000	0.13383	AGG	KISS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087892.1		-	ENST00000367194.4	Missense_Mutation	SNP	1 : 204159862 - 204159862 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	111	23
EEF2	1938	broad.mit.edu	37	19	3981965	3981965	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3981965T>C	ENST00000309311.6	-	6	965	c.877A>G	c.(877-879)Atc>Gtc	p.I293V		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	293						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)		GGGTCCAGGATCAGCTGGCAG	0.647		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													123	118	120			NA	NA	19		NA											NA				3981965		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.877A>G	19.37:g.3981965T>C	ENSP00000307940:p.Ile293Val	NA	B2RMP5|D6W618|Q58J86	37	CCDS12117.1	.	.	.	.	.	.	.	.	.	.	T	6.539	0.467734	0.12402	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	T	0.76448	-1.02	6.06	6.06	0.98353	Protein synthesis factor, GTP-binding (1);	0.056752	0.85682	D	0.000000	T	0.53045	0.1772	N	0.03903	-0.33	0.48830	D	0.999717	B	0.02656	0.0	B	0.06405	0.002	T	0.53613	-0.8414	10	0.13470	T	0.59	-61.7397	10.1469	0.42769	0.0:0.0737:0.0:0.9263	.	293	P13639	EF2_HUMAN	V	293	ENSP00000307940:I293V	ENSP00000307940:I293V	I	-	1	0	EEF2	3932965	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	4.109000	0.57824	2.319000	0.78375	0.533000	0.62120	ATC	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457615.2		-	ENST00000309311.6	Missense_Mutation	SNP	19 : 3981965 - 3981965 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	952	171
SLIT1	6585	broad.mit.edu	37	10	98808726	98808726	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98808726T>G	ENST00000266058.4	-	14	1696	c.1451A>C	c.(1450-1452)aAg>aCg	p.K484T	SLIT1_ENST00000371070.4_Missense_Mutation_p.K484T|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	484	LRRCT 2.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GCACCGGAACTTCTTGCTCTT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	91	97			NA	NA	10		NA											NA				98808726		2203	4300	6503	SO:0001583	missense			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122	6585	6585			11085	protein-coding gene	gene with protein product		603742	slit (Drosophila) homolog 1	SLIL1	NA	9693030, 9813312	Standard	NM_003061	NM_003061	NA	Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.1451A>C	10.37:g.98808726T>G	ENSP00000266058:p.Lys484Thr	NA	Q8WWZ2|Q9UIL7	37	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.628289	0.87560	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371070;ENST00000314867	D;D;T	0.81739	-1.53;-1.52;0.71	5.14	5.14	0.70334	Cysteine-rich flanking region, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.86686	0.5992	L	0.52573	1.65	0.80722	D	1	D;D	0.76494	0.984;0.999	D;D	0.81914	0.941;0.995	D	0.88106	0.2822	10	0.87932	D	0	.	15.1227	0.72457	0.0:0.0:0.0:1.0	.	494;484	E7EWQ8;O75093	.;SLIT1_HUMAN	T	484;494;484;477	ENSP00000266058:K484T;ENSP00000360109:K484T;ENSP00000315005:K477T	ENSP00000266058:K484T	K	-	2	0	SLIT1	98798716	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.864000	0.87037	2.151000	0.67156	0.455000	0.32223	AAG	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049636.1		-	ENST00000266058.4	Missense_Mutation	SNP	10 : 98808726 - 98808726 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	737	137
PRKAR1A	5573	broad.mit.edu	37	17	66535523	66535523	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66535523G>T	ENST00000588188.2	+	9	973				FAM20A_ENST00000226094.5_5'UTR|FAM20A_ENST00000592554.1_Missense_Mutation_p.S439Y	NM_001276290.1	NP_001263219.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	NA					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					TTCATCATGGGAGTGTCGTCC	0.517		NA	T, Mis, N, F, S	RET	papillary thyroid	myxoma, endocrine, papillary thyroid			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(167;637 1670 33025 39608 46699 51856)	yes	Dom, Rec	yes	Carney complex	17	17q23-q24	5573	protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)		E, M	0													147	130	136			NA	NA	17		NA											NA				66535523		2203	4300	6503	SO:0001627	intron_variant	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	5573	5573	2.7.11.1		9388	protein-coding gene	gene with protein product	Carney complex type 1	188830	tissue specific extinguisher 1	PRKAR1, TSE1	NA	3479018, 10973256	Standard		NM_212471	NA	Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000588188.2:c.973+9381G>T	17.37:g.66535523G>T		NA	Q567S7	37		.	.	.	.	.	.	.	.	.	.	G	22.7	4.318924	0.81469	.	.	ENSG00000108950	ENST00000226094;ENST00000375556	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.76772	0.4034	M	0.78916	2.43	0.80722	D	1	D;D	0.64830	0.994;0.957	D;P	0.66847	0.947;0.844	T	0.70901	-0.4746	9	0.02654	T	1	-42.1522	20.3437	0.98782	0.0:0.0:1.0:0.0	.	439;301	Q96MK3;B7Z4Y3	FA20A_HUMAN;.	Y	439;43	.	ENSP00000226094:S439Y	S	-	2	0	FAM20A	64047118	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	6.394000	0.73223	2.815000	0.96918	0.561000	0.74099	TCC	PRKAR1A-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000449895.2		+	ENST00000588188.2	Intron	SNP	17 : 66535523 - 66535523 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	309	44
RABGAP1	23637	broad.mit.edu	37	9	125863974	125863974	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125863974C>A	ENST00000373647.4	+	25	3153	c.3019C>A	c.(3019-3021)Ctg>Atg	p.L1007M	RABGAP1_ENST00000373643.5_Missense_Mutation_p.L346M	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	1007					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						CAAGAACCAGCTGAGAGAAAT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	76	76			NA	NA	9		NA											NA				125863974		2203	4300	6503	SO:0001583	missense			AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454	23637	23637			17155	protein-coding gene	gene with protein product	rab6 GTPase activating protein (GAP and centrosome-associated), TBC1 domain family, member 11	615882			NA	10202141	Standard	NM_012197	NM_012197	NA	Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.3019C>A	9.37:g.125863974C>A	ENSP00000362751:p.Leu1007Met	NA	Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	37	CCDS6848.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.946014	0.73672	.	.	ENSG00000011454	ENST00000373647;ENST00000373643	T;T	0.17528	3.2;2.27	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000006	T	0.23766	0.0575	L	0.51422	1.61	0.80722	D	1	P	0.42357	0.777	B	0.42555	0.391	T	0.00529	-1.1687	10	0.51188	T	0.08	-14.6153	19.5755	0.95441	0.0:1.0:0.0:0.0	.	1007	Q9Y3P9	RBGP1_HUMAN	M	1007;346	ENSP00000362751:L1007M;ENSP00000362747:L346M	ENSP00000362747:L346M	L	+	1	2	RABGAP1	124903795	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.964000	0.56780	2.865000	0.98341	0.655000	0.94253	CTG	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053976.3		+	ENST00000373647.4	Missense_Mutation	SNP	9 : 125863974 - 125863974 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	231	41
KMT2C	58508	broad.mit.edu	37	7	151878240	151878240	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151878240C>A	ENST00000262189.6	-	36	6923	c.6705G>T	c.(6703-6705)agG>agT	p.R2235S	KMT2C_ENST00000355193.2_Missense_Mutation_p.R2235S	NM_170606.2	NP_733751.2			lysine (K)-specific methyltransferase 2C	NA											NA						TCATTGAGGACCTAGTAAAAC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	96	96			NA	NA	7		NA											NA				151878240		2203	4300	6503	SO:0001583	missense			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609	58508	58508		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	13726	protein-coding gene	gene with protein product		606833	myeloid/lymphoid or mixed-lineage leukemia 3	MLL3	NA	10819331	Standard		XM_005250026	NA	Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6705G>T	7.37:g.151878240C>A	ENSP00000262189:p.Arg2235Ser	NA		37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.853363	0.32791	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84146	-1.81;-1.81	5.37	3.45	0.39498	.	0.000000	0.47852	D	0.000201	T	0.76485	0.3994	L	0.57536	1.79	0.80722	D	1	P;B	0.35507	0.506;0.42	B;B	0.25506	0.051;0.061	T	0.71394	-0.4606	10	0.21540	T	0.41	.	8.4718	0.32991	0.0:0.7012:0.0:0.2988	.	2235;1296	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	S	2235	ENSP00000262189:R2235S;ENSP00000347325:R2235S	ENSP00000262189:R2235S	R	-	3	2	MLL3	151509173	0.000000	0.05858	0.562000	0.28370	0.977000	0.68977	-0.232000	0.09055	1.319000	0.45190	0.655000	0.94253	AGG	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318887.3		-	ENST00000262189.6	Missense_Mutation	SNP	7 : 151878240 - 151878240 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	399	26
SFMBT1	51460	broad.mit.edu	37	3	52955765	52955765	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52955765G>A	ENST00000394752.3	-	11	1596	c.1214C>T	c.(1213-1215)aCc>aTc	p.T405I	SFMBT1_ENST00000296295.6_Missense_Mutation_p.T405I|SFMBT1_ENST00000394750.1_Missense_Mutation_p.T405I|SFMBT1_ENST00000358080.2_Missense_Mutation_p.T405I	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	405					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TGCAGTGATGGTAGCAACACA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	172	174			NA	NA	3		NA											NA				52955765		2203	4300	6503	SO:0001583	missense			AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935	51460	51460		Sterile alpha motif (SAM) domain containing	20255	protein-coding gene	gene with protein product		607319			NA	10661410	Standard	NM_016329	NM_016329	NA	Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.1214C>T	3.37:g.52955765G>A	ENSP00000378235:p.Thr405Ile	NA	Q96C73|Q9Y4Q9	37	CCDS2867.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333359	0.81801	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000296295;ENST00000394750	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.43	5.43	0.79202	.	0.053289	0.85682	D	0.000000	T	0.77968	0.4210	M	0.93720	3.45	0.58432	D	0.999999	P;D	0.57257	0.948;0.979	P;P	0.58660	0.66;0.843	T	0.83142	-0.0108	10	0.62326	D	0.03	.	19.4279	0.94751	0.0:0.0:1.0:0.0	.	405;405	Q9UHJ3-2;Q9UHJ3	.;SMBT1_HUMAN	I	405	ENSP00000378235:T405I;ENSP00000350789:T405I;ENSP00000296295:T405I;ENSP00000378233:T405I	ENSP00000296295:T405I	T	-	2	0	SFMBT1	52930805	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.972000	0.56838	2.824000	0.97209	0.655000	0.94253	ACC	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353040.3		-	ENST00000394752.3	Missense_Mutation	SNP	3 : 52955765 - 52955765 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1112	211
LARS2	23395	broad.mit.edu	37	3	45459025	45459025	+	Missense_Mutation	SNP	G	G	A	rs150836537		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45459025G>A	ENST00000415258.1	+	4	556	c.415G>A	c.(415-417)Gca>Aca	p.A139T	LARS2_ENST00000265537.3_Missense_Mutation_p.A139T|LARS2_ENST00000414984.1_Missense_Mutation_p.A96T			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	139					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	TGAAAATGCCGCAGTCGAGAG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA	0,4406		0,0,2203	128	121	123		415	5.7	0.2	3	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	missense	LARS2	NM_015340.3	58	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	139/904	45459025	1,13005	2203	4300	6503	SO:0001583	missense			AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	23395	23395	6.1.1.4	Aminoacyl tRNA synthetases / Class I	17095	protein-coding gene	gene with protein product	leucine tRNA ligase 2, mitochondrial	604544			NA	20194621, 15123417	Standard	NM_015340	NM_015340	NA	Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.415G>A	3.37:g.45459025G>A	ENSP00000408576:p.Ala139Thr	NA		37	CCDS2728.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.627418	0.66901	0.0	1.16E-4	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000414984;ENST00000431023	D;D;D;T	0.81908	-1.55;-1.55;-1.55;1.61	5.74	5.74	0.90152	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.053586	0.64402	D	0.000001	D	0.94013	0.8082	H	0.97918	4.105	0.58432	D	0.999991	D;D	0.64830	0.994;0.994	P;P	0.60789	0.879;0.879	D	0.95830	0.8857	10	0.87932	D	0	-25.8708	16.8525	0.85998	0.0:0.0:1.0:0.0	.	96;139	E9PHM2;Q15031	.;SYLM_HUMAN	T	139;139;96;96	ENSP00000265537:A139T;ENSP00000408576:A139T;ENSP00000412893:A96T;ENSP00000406611:A96T	ENSP00000265537:A139T	A	+	1	0	LARS2	45434029	1.000000	0.71417	0.150000	0.22450	0.247000	0.25773	6.910000	0.75741	2.715000	0.92844	0.655000	0.94253	GCA	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345001.1		+	ENST00000415258.1	Missense_Mutation	SNP	3 : 45459025 - 45459025 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	459	122
MEGF8	1954	broad.mit.edu	37	19	42857101	42857101	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42857101T>G	ENST00000334370.4	+	19	3806	c.3171T>G	c.(3169-3171)caT>caG	p.H1057Q	MEGF8_ENST00000251268.6_Missense_Mutation_p.H1124Q	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1124						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ACTGTGGCCATGGTGTGTGCA	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	28	31			NA	NA	19		NA											NA				42857101		2201	4294	6495	SO:0001583	missense			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429	1954	1954			3233	protein-coding gene	gene with protein product	HBV pre s2 binding protein 1	604267	EGF-like-domain, multiple 4, chromosome 19 open reading frame 49	EGFL4, C19orf49	NA	9693030	Standard	NM_001410	NM_001410	NA	Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000334370.4:c.3171T>G	19.37:g.42857101T>G	ENSP00000334219:p.His1057Gln	NA	A8KAY0|O75097	37	CCDS12604.2	.	.	.	.	.	.	.	.	.	.	T	14.13	2.442395	0.43326	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.21932	1.98;1.99	5.41	-4.91	0.03085	Epidermal growth factor-like (1);	0.159391	0.42682	D	0.000661	T	0.11537	0.0281	N	0.21194	0.64	0.80722	D	1	P;B	0.34934	0.476;0.22	B;B	0.29267	0.1;0.042	T	0.01071	-1.1461	10	0.62326	D	0.03	-12.568	15.5599	0.76237	0.0:0.6235:0.0:0.3765	.	1124;1057	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	Q	1057;1124	ENSP00000334219:H1057Q;ENSP00000251268:H1124Q	ENSP00000251268:H1124Q	H	+	3	2	MEGF8	47548941	0.020000	0.18652	0.953000	0.39169	0.823000	0.46562	-1.492000	0.02300	-0.873000	0.04032	-0.366000	0.07423	CAT	MEGF8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317695.1		+	ENST00000334370.4	Missense_Mutation	SNP	19 : 42857101 - 42857101 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	47	7
ZNF548	147694	broad.mit.edu	37	19	57910367	57910367	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57910367G>A	ENST00000366197.5	+	3	962	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	AC003002.6_ENST00000600421.1_Intron|AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.A250T	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAAGTACAGTGCCAATTTCAT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	49	49			NA	NA	19		NA											NA				57910367		2145	4274	6419	SO:0001583	missense			AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785	147694	147694		Zinc fingers, C2H2-type, -	26561	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152909	NM_152909	NA	Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.712G>A	19.37:g.57910367G>A	ENSP00000379482:p.Ala238Thr	NA	Q96M05	37	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	G	9.565	1.119527	0.20877	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.15256	2.44;2.44	2.28	-1.54	0.08584	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09468	0.0233	N	0.17248	0.465	0.09310	N	1	B;B	0.20988	0.05;0.03	B;B	0.23574	0.047;0.021	T	0.34453	-0.9828	9	0.48119	T	0.1	.	5.8219	0.18532	0.0:0.3077:0.2372:0.4551	.	250;238	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	T	250;238	ENSP00000337555:A250T;ENSP00000379482:A238T	ENSP00000337555:A250T	A	+	1	0	ZNF548	62602179	0.000000	0.05858	0.000000	0.03702	0.386000	0.30323	-2.895000	0.00707	-0.209000	0.10156	0.655000	0.94253	GCC	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465937.1		+	ENST00000366197.5	Missense_Mutation	SNP	19 : 57910367 - 57910367 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	262	51
CYP26B1	56603	broad.mit.edu	37	2	72371289	72371289	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:72371289C>T	ENST00000001146.2	-	2	461	c.258G>A	c.(256-258)acG>acA	p.T86T	CYP26B1_ENST00000546307.1_Intron	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	86					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CCAACAAATGCGTCTTGAACA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	84	87			NA	NA	2		NA											NA				72371289		2203	4300	6503	SO:0001819	synonymous_variant				CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137	56603	56603		Cytochrome P450s	20581	protein-coding gene	gene with protein product		605207			NA	10545224	Standard	NM_019885	NM_019885	NA	Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.258G>A	2.37:g.72371289C>T		NA	B2R8M7|Q32MC0|Q53TW1|Q9NP41	37	CCDS1919.1																																																																																			CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251969.1		-	ENST00000001146.2	Silent	SNP	2 : 72371289 - 72371289 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	688	119
SLC22A17	51310	broad.mit.edu	37	14	23821267	23821267	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23821267T>C	ENST00000354772.3	-	2	660	c.157A>G	c.(157-159)Acc>Gcc	p.T53A	SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000206544.8_Missense_Mutation_p.T53A|SLC22A17_ENST00000397260.3_5'UTR|SLC22A17_ENST00000397267.1_Missense_Mutation_p.T53A	NM_016609.3	NP_057693.3	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	53					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TCGGTACTGGTGGCGACACGG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	21	23			NA	NA	14		NA											NA				23821267		2198	4295	6493	SO:0001583	missense			AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096	51310	51310		Solute carriers	23095	protein-coding gene	gene with protein product	neutrophil gelatinase-associated lipocalin receptor	611461			NA	16377569	Standard	NM_020372	NM_016609	NA	Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000354772.3:c.157A>G	14.37:g.23821267T>C	ENSP00000346824:p.Thr53Ala	NA	A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	37	CCDS9594.2	.	.	.	.	.	.	.	.	.	.	T	5.359	0.251576	0.10185	.	.	ENSG00000092096	ENST00000354772;ENST00000206544;ENST00000397267	T;T;T	0.54675	0.56;0.56;0.56	2.86	2.86	0.33363	Major facilitator superfamily domain (1);	0.421812	0.19588	U	0.110689	T	0.38746	0.1052	N	0.08118	0	0.29215	N	0.874315	D;P;P	0.56287	0.975;0.732;0.613	P;B;B	0.58130	0.833;0.124;0.058	T	0.22243	-1.0222	10	0.08179	T	0.78	-17.3251	7.5483	0.27781	0.0:0.0:0.0:1.0	.	53;53;53	Q8WUG5-3;Q8WUG5-2;Q8WUG5	.;.;S22AH_HUMAN	A	53	ENSP00000346824:T53A;ENSP00000206544:T53A;ENSP00000380437:T53A	ENSP00000206544:T53A	T	-	1	0	SLC22A17	22891107	0.862000	0.29867	0.996000	0.52242	0.985000	0.73830	0.351000	0.20096	1.557000	0.49525	0.379000	0.24179	ACC	SLC22A17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071769.4		-	ENST00000354772.3	Missense_Mutation	SNP	14 : 23821267 - 23821267 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	116	23
SHROOM2	357	broad.mit.edu	37	X	9863881	9863881	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:9863881C>T	ENST00000380913.3	+	4	2023	c.1933C>T	c.(1933-1935)Cgg>Tgg	p.R645W		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	645					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GCAGAAGAGCCGGAGCACAGT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TRP/ARG	0,3828		0,0,1630,568	15	16	16		1933	-0.7	0.1	X		16	1,6713		0,1,2424,1864	no	missense	SHROOM2	NM_001649.2	101	0,1,4054,2432	TT,TC,CC,C	NA	0.0149,0.0,0.0095	probably-damaging	645/1617	9863881	1,10541	2198	4289	6487	SO:0001583	missense			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950	357	357			630	protein-coding gene	gene with protein product		300103	apical protein, Xenopus laevis-like, apical protein-like (Xenopus laevis)	APXL	NA	7795590, 16615870	Standard	NM_001649	NM_001649	NA	Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.1933C>T	X.37:g.9863881C>T	ENSP00000370299:p.Arg645Trp	NA	B9EIQ7	37	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797175	0.31777	0.0	1.49E-4	ENSG00000146950	ENST00000380913	T	0.49139	0.79	5.04	-0.677	0.11357	Apx/shroom, ASD1 (1);	0.744958	0.12658	N	0.449893	T	0.61211	0.2329	L	0.59436	1.845	0.34755	D	0.732147	D	0.76494	0.999	D	0.65987	0.94	T	0.70916	-0.4742	10	0.87932	D	0	-8.1434	14.1036	0.65072	0.4572:0.5428:0.0:0.0	.	645	Q13796	SHRM2_HUMAN	W	645	ENSP00000370299:R645W	ENSP00000370299:R645W	R	+	1	2	SHROOM2	9823881	0.846000	0.29590	0.060000	0.19600	0.043000	0.13939	1.833000	0.39161	-0.131000	0.11578	-0.315000	0.08773	CGG	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055721.1		+	ENST00000380913.3	Missense_Mutation	SNP	X : 9863881 - 9863881 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	114	26
C11orf63	79864	broad.mit.edu	37	11	122774741	122774741	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122774741G>A	ENST00000531316.1	+	2	545	c.453G>A	c.(451-453)acG>acA	p.T151T	C11orf63_ENST00000307257.6_Silent_p.T151T|C11orf63_ENST00000227349.2_Silent_p.T151T			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	151										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		CGGAGTCCACGGACAGCTCTT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	94	91			NA	NA	11		NA											NA				122774741		2202	4299	6501	SO:0001819	synonymous_variant			BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944	79864	79864			26288	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024806	NM_024806	NA	Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.453G>A	11.37:g.122774741G>A		NA	A8K6G0|Q96GB5|Q9H5D6	37	CCDS8438.1																																																																																			C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387511.1		+	ENST00000531316.1	Silent	SNP	11 : 122774741 - 122774741 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	823	156
GCNT1	2650	broad.mit.edu	37	9	79118164	79118164	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79118164C>T	ENST00000376730.4	+	4	1350	c.867C>T	c.(865-867)ttC>ttT	p.F289F	GCNT1_ENST00000536223.1_Silent_p.F289F|GCNT1_ENST00000444201.2_Silent_p.F289F|GCNT1_ENST00000442371.1_Silent_p.F289F	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	289	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	p.F289F(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						GTGCCTACTTCGTGGTCAGTA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											113	97	102			NA	NA	9		NA											NA				79118164		2203	4300	6503	SO:0001819	synonymous_variant			L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2650	2650	2.4.1.102	Glucosaminyl (N-acetyl) transferase and xylosyltransferase family	4203	protein-coding gene	gene with protein product	core 2 beta1,6 N-acetylglucosaminyltransferase-I, beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase	600391	glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)	NACGT2	NA	8449405, 9915862	Standard	NM_001097634	NM_001490	NA	Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.867C>T	9.37:g.79118164C>T		NA	Q6DJZ4	37	CCDS6653.1																																																																																			GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052725.1		+	ENST00000376730.4	Silent	SNP	9 : 79118164 - 79118164 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	580	112
HEATR5B	54497	broad.mit.edu	37	2	37232786	37232786	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37232786C>T	ENST00000233099.5	-	30	4989	c.4894G>A	c.(4894-4896)Gca>Aca	p.A1632T	HEATR5B_ENST00000354531.2_Missense_Mutation_p.A1632T	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1632							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TGATCTTCTGCAATATGGACT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	127	130			NA	NA	2		NA											NA				37232786		2203	4300	6503	SO:0001583	missense			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869	54497	54497			29273	protein-coding gene	gene with protein product					NA	10718198	Standard	NM_019024	XM_005264379	NA	Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.4894G>A	2.37:g.37232786C>T	ENSP00000233099:p.Ala1632Thr	NA	B5MDU8|Q7Z3B2|Q9NVL7	37	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.629953	0.67015	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.52295	0.67;0.67	5.63	5.63	0.86233	Armadillo-type fold (1);	0.056422	0.64402	D	0.000001	T	0.32466	0.0830	N	0.10874	0.06	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.08493	-1.0719	10	0.22706	T	0.39	-17.3207	19.7096	0.96089	0.0:1.0:0.0:0.0	.	1632	Q9P2D3	HTR5B_HUMAN	T	1632	ENSP00000233099:A1632T;ENSP00000346531:A1632T	ENSP00000233099:A1632T	A	-	1	0	HEATR5B	37086290	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.594000	0.82698	2.652000	0.90054	0.655000	0.94253	GCA	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325492.1		-	ENST00000233099.5	Missense_Mutation	SNP	2 : 37232786 - 37232786 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	484	78
ENSA	2029	broad.mit.edu	37	1	150598174	150598174	+	Silent	SNP	G	G	A	rs141017549	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150598174G>A	ENST00000369016.4	-	4	437	c.342C>T	c.(340-342)ccC>ccT	p.P114P	ENSA_ENST00000361631.5_Silent_p.P110P|ENSA_ENST00000354702.3_5'UTR|ENSA_ENST00000361532.5_Silent_p.P94P|ENSA_ENST00000369009.3_Silent_p.P121P|ENSA_ENST00000503345.1_3'UTR|ENSA_ENST00000513281.1_Silent_p.P94P|ENSA_ENST00000356527.5_Silent_p.P121P|ENSA_ENST00000271690.8_Silent_p.P98P|ENSA_ENST00000503241.1_Silent_p.P114P|ENSA_ENST00000369014.5_Silent_p.P98P|ENSA_ENST00000339643.5_Silent_p.P114P			O43768	ENSA_HUMAN	endosulfine alpha	98				K -> Q (in Ref. 8; CAG33411).	cell division|G2/M transition of mitotic cell cycle|mitosis|response to nutrient|transport	cytoplasm	ion channel inhibitor activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)	4	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171)			CCTGTGGGGTGGGGATGTGAT	0.567		NA											G	1	5e-04	0.002	NA	2184	NA	0.9998	,	,	NA	2e-04	NA	NA	NA	4e-04	0.8054	EXOME	NA	NA	3e-04	SNP	Esophageal Squamous(188;763 2078 3002 3411 26027)							NA				0								G	,,,,,,	11,4395	17.9+/-39.9	0,11,2192	108	92	97		294,342,342,294,330,282,282	3.4	1	1	dbSNP_134	97	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ENSA	NM_004436.2,NM_207042.1,NM_207043.1,NM_207044.1,NM_207045.1,NM_207046.1,NM_207047.1	,,,,,,	0,11,6492	AA,AG,GG	NA	0.0,0.2497,0.0846	,,,,,,	98/122,114/138,114/134,98/118,110/134,94/118,94/114	150598174	11,12995	2203	4300	6503	SO:0001819	synonymous_variant			X99906	CCDS958.1, CCDS959.1, CCDS960.1, CCDS961.1, CCDS962.1, CCDS963.1, CCDS964.1, CCDS965.1	1q21.3	2010-03-11			ENSG00000143420	ENSG00000143420	2029	2029			3360	protein-coding gene	gene with protein product		603061			NA	9653196	Standard	NM_207042	NM_004436	NA	Approved	MGC4319, MGC8394, MGC78563, ARPP-19e	uc001eve.3	O43768	OTTHUMG00000035004	ENST00000369016.4:c.342C>T	1.37:g.150598174G>A		NA	A8K1Z9|Q5T5H2|Q68D48|Q6FHW0|Q6IAM4|Q6NUL2|Q6VUC6|Q6VUC7|Q6VUC8|Q6VUC9|Q6VUD0|Q6VUD1|Q9NRZ0	37																																																																																				ENSA-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000087245.1		-	ENST00000369016.4	Silent	SNP	1 : 150598174 - 150598174 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	295	10
UBR2	23304	broad.mit.edu	37	6	42656018	42656018	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42656018C>A	ENST00000372901.1	+	45	5176	c.4918C>A	c.(4918-4920)Ctg>Atg	p.L1640M	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372899.1_Missense_Mutation_p.L1640M			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1640					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			CGGATCTCTGCTGTGCTCCCA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													196	184	188			NA	NA	6		NA											NA				42656018		2203	4300	6503	SO:0001583	missense			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048	23304	23304		Ubiquitin protein ligase E3 component n-recognins	21289	protein-coding gene	gene with protein product		609134	chromosome 6 open reading frame 133	C6orf133	NA		Standard	NM_015255	NM_015255	NA	Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372901.1:c.4918C>A	6.37:g.42656018C>A	ENSP00000361992:p.Leu1640Met	NA	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	37		.	.	.	.	.	.	.	.	.	.	C	22.4	4.282912	0.80692	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.69040	-0.37;-0.37	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.79417	0.4442	M	0.81682	2.555	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	T	0.80993	-0.1134	10	0.72032	D	0.01	-20.2185	14.5261	0.67890	0.0:0.93:0.0:0.07	.	228;1640;1640	B3KXG6;Q8IWV8-4;Q8IWV8	.;.;UBR2_HUMAN	M	1640	ENSP00000361990:L1640M;ENSP00000361992:L1640M	ENSP00000361990:L1640M	L	+	1	2	UBR2	42763996	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.699000	0.47077	2.885000	0.99019	0.655000	0.94253	CTG	UBR2-002	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000144880.1		+	ENST00000372901.1	Missense_Mutation	SNP	6 : 42656018 - 42656018 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1053	51
CRTAC1	55118	broad.mit.edu	37	10	99667810	99667810	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99667810G>A	ENST00000370597.3	-	6	1165	c.810C>T	c.(808-810)aaC>aaT	p.N270N	CRTAC1_ENST00000370591.2_Silent_p.N270N|CRTAC1_ENST00000298819.4_Silent_p.N270N	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	270						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CATCGCCCCGGTTGTGGAAAA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	67	74			NA	NA	10		NA											NA				99667810		2203	4300	6503	SO:0001819	synonymous_variant			AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713	55118	55118			14882	protein-coding gene	gene with protein product		606276			NA	11139377	Standard	NM_018058	NM_018058	NA	Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.810C>T	10.37:g.99667810G>A		NA	B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	37	CCDS31266.1																																																																																			CRTAC1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049754.1		-	ENST00000370597.3	Silent	SNP	10 : 99667810 - 99667810 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	286	14
GLP1R	2740	broad.mit.edu	37	6	39034062	39034062	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39034062G>A	ENST00000373256.4	+	5	535	c.492G>A	c.(490-492)gcG>gcA	p.A164A		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	164					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	TCGCCTCTGCGATCCTCCTCG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	112	124			NA	NA	6		NA											NA				39034062		2203	4300	6503	SO:0001819	synonymous_variant				CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164	2740	2740		GPCR / Class B : Glucagon receptors	4324	protein-coding gene	gene with protein product		138032			NA		Standard		NM_002062	NA	Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.492G>A	6.37:g.39034062G>A		NA	Q2M229|Q99669	37	CCDS4839.1																																																																																			GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040443.1		+	ENST00000373256.4	Silent	SNP	6 : 39034062 - 39034062 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	198	27
SEMA5B	54437	broad.mit.edu	37	3	122642572	122642572	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122642572G>A	ENST00000357599.3	-	10	1550	c.1164C>T	c.(1162-1164)tgC>tgT	p.C388C	SEMA5B_ENST00000451055.2_Silent_p.C442C|SEMA5B_ENST00000195173.4_Silent_p.C388C	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	388	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.C388C(1)|p.C442C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGTTGAAGGCGCAGACAGCAG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - coding silent(2)	lung(2)											106	102	104			NA	NA	3		NA											NA				122642572		2203	4300	6503	SO:0001819	synonymous_variant			AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684	54437	54437		Semaphorins	10737	protein-coding gene	gene with protein product		609298		SEMAG	NA	8817451	Standard	NM_001031702	NM_001256346	NA	Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1164C>T	3.37:g.122642572G>A		NA	A8K5U2|Q6DD89|Q6UY12|Q9NW17	37	CCDS35491.1																																																																																			SEMA5B-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277165.1		-	ENST00000357599.3	Silent	SNP	3 : 122642572 - 122642572 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	671	109
ATRNL1	26033	broad.mit.edu	37	10	116925332	116925332	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116925332G>T	ENST00000355044.3	+	7	1145	c.1019G>T	c.(1018-1020)aGc>aTc	p.S340I	ATRNL1_ENST00000527407.1_Intron|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	340						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AATTTAGAAAGCAGTATATGG	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	77	77			NA	NA	10		NA											NA				116925332		2203	4298	6501	SO:0001583	missense			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518	26033	26033			29063	protein-coding gene	gene with protein product		612869			NA	9628581	Standard	XM_049349	NM_001276282	NA	Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.1019G>T	10.37:g.116925332G>T	ENSP00000347152:p.Ser340Ile	NA	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	37	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255337	0.80135	.	.	ENSG00000107518	ENST00000355044	T	0.68331	-0.32	5.65	4.69	0.59074	.	0.036729	0.85682	D	0.000000	T	0.77370	0.4120	M	0.65975	2.015	0.80722	D	1	P;D	0.61080	0.933;0.989	B;P	0.61201	0.441;0.885	T	0.79502	-0.1777	10	0.66056	D	0.02	-9.9627	13.3729	0.60723	0.0818:0.0:0.9182:0.0	.	340;340	Q5VV63;Q5VV63-2	ATRN1_HUMAN;.	I	340	ENSP00000347152:S340I	ENSP00000347152:S340I	S	+	2	0	ATRNL1	116915322	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.321000	0.51999	1.253000	0.44018	0.650000	0.86243	AGC	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050507.3		+	ENST00000355044.3	Missense_Mutation	SNP	10 : 116925332 - 116925332 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	241	37
CASZ1	54897	broad.mit.edu	37	1	10714519	10714519	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10714519C>T	ENST00000377022.3	-	10	2112	c.1795G>A	c.(1795-1797)Gac>Aac	p.D599N	CASZ1_ENST00000344008.5_Missense_Mutation_p.D599N	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AACTGGCAGTCGGCTGTGCCA	0.597		NA											C	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	1	EXOME	NA	NA	7e-04	SNP								NA				0													144	128	134			NA	NA	1		NA											NA				10714519		2203	4300	6503	SO:0001583	missense			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940	54897	54897		Zinc fingers, C2H2-type	26002	protein-coding gene	gene with protein product	zinc finger protein 693, survival related gene	609895	castor homolog 1, zinc finger (Drosophila)		NA	16631614, 21252912	Standard	NM_017766	NM_001079843	NA	Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1795G>A	1.37:g.10714519C>T	ENSP00000366221:p.Asp599Asn	NA	Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	37	CCDS41246.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	19.40	3.821316	0.71028	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.87	4.87	0.63330	.	0.194076	0.53938	D	0.000050	T	0.56514	0.1990	N	0.12746	0.255	0.45464	D	0.998434	P;D;D	0.62365	0.851;0.981;0.991	B;P;P	0.57911	0.147;0.481;0.829	T	0.62139	-0.6917	9	0.44086	T	0.13	-42.6794	18.4056	0.90535	0.0:1.0:0.0:0.0	.	623;599;599	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	N	599	.	ENSP00000339445:D599N	D	-	1	0	CASZ1	10637106	1.000000	0.71417	0.942000	0.38095	0.790000	0.44656	4.571000	0.60879	2.421000	0.82119	0.561000	0.74099	GAC	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005673.2		-	ENST00000377022.3	Missense_Mutation	SNP	1 : 10714519 - 10714519 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	446	46
FLOT2	2319	broad.mit.edu	37	17	27208313	27208313	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27208313G>A	ENST00000394906.2	-	11	1237	c.1160C>T	c.(1159-1161)gCg>gTg	p.A387V	FLOT2_ENST00000394908.4_Missense_Mutation_p.A332V|FLOT2_ENST00000585169.1_Missense_Mutation_p.A332V|FLOT2_ENST00000577789.1_5'UTR			Q14254	FLOT2_HUMAN	flotillin 2	332					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CTTGCCCATCGCCTCGATGAC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	75	74			NA	NA	17		NA											NA				27208313		2098	4222	6320	SO:0001583	missense			M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589	2319	2319			3758	protein-coding gene	gene with protein product	Flotillin 2 (epidermal surface antigen 1), membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)	131560		M17S1	NA	1769667	Standard	NM_004475	XM_005257950	NA	Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394906.2:c.1160C>T	17.37:g.27208313G>A	ENSP00000378366:p.Ala387Val	NA		37		.	.	.	.	.	.	.	.	.	.	G	35	5.590102	0.96590	.	.	ENSG00000132589	ENST00000394906;ENST00000394908	T;T	0.35421	1.31;1.31	5.77	5.77	0.91146	.	0.047985	0.85682	D	0.000000	T	0.46776	0.1410	M	0.80982	2.52	0.80722	D	1	P	0.48162	0.906	B	0.41412	0.356	T	0.54906	-0.8223	10	0.54805	T	0.06	-27.4188	18.9843	0.92764	0.0:0.0:1.0:0.0	.	332	Q14254	FLOT2_HUMAN	V	387;332	ENSP00000378366:A387V;ENSP00000378368:A332V	ENSP00000378366:A387V	A	-	2	0	FLOT2	24232439	1.000000	0.71417	0.968000	0.41197	0.922000	0.55478	9.753000	0.98904	2.744000	0.94065	0.561000	0.74099	GCG	FLOT2-001	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000255934.2		-	ENST00000394906.2	Missense_Mutation	SNP	17 : 27208313 - 27208313 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	571	106
YY1	7528	broad.mit.edu	37	14	100705717	100705717	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100705717G>T	ENST00000262238.4	+	1	396	c.136G>T	c.(136-138)Gag>Tag	p.E46*		NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	46	Asp/Glu-rich (acidic).				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				cgaggaggaggaggaggacga	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	16	18			NA	NA	14		NA											NA				100705717		2172	4266	6438	SO:0001587	stop_gained			BC020324	CCDS9957.1	14q	2013-01-08			ENSG00000100811	ENSG00000100811	7528	7528		INO80 complex subunits, Zinc fingers, C2H2-type	12856	protein-coding gene	gene with protein product	INO80 complex subunit S, Yin and Yang 1 protein	600013			NA	1655281, 7912122	Standard	NM_003403	NM_003403	NA	Approved	NF-E1, DELTA, UCRBP, YIN-YANG-1, INO80S	uc001ygy.2	P25490	OTTHUMG00000150479	ENST00000262238.4:c.136G>T	14.37:g.100705717G>T	ENSP00000262238:p.Glu46*	NA	Q14935	37	CCDS9957.1	.	.	.	.	.	.	.	.	.	.	.	26.9	4.779841	0.90195	.	.	ENSG00000100811	ENST00000262238	.	.	.	1.92	0.98	0.19750	.	0.232106	0.24786	U	0.035613	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	7.0713	0.25179	0.1539:0.0:0.8461:0.0	.	.	.	.	X	46	.	ENSP00000262238:E46X	E	+	1	0	YY1	99775470	1.000000	0.71417	0.136000	0.22124	0.761000	0.43186	2.646000	0.46630	0.152000	0.19188	0.538000	0.68166	GAG	YY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318277.1		+	ENST00000262238.4	Nonsense_Mutation	SNP	14 : 100705717 - 100705717 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	79	13
CHD5	26038	broad.mit.edu	37	1	6181169	6181169	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6181169C>T	ENST00000262450.3	-	33	5007	c.4908G>A	c.(4906-4908)ccG>ccA	p.P1636P	CHD5_ENST00000378021.1_Silent_p.P493P	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1636					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCCAACCTCTCGGCAGCTGCT	0.652		NA											c	1	5e-04	NA	0.0028	2184	NA	0.9995	,	,	NA	3e-04	NA	NA	NA	6e-04	0.7068	EXOME	NA	NA	4e-04	SNP								NA				0													18	22	21			NA	NA	1		NA											NA				6181169		2203	4300	6503	SO:0001819	synonymous_variant			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254	26038	26038		Zinc fingers, PHD-type	16816	protein-coding gene	gene with protein product		610771			NA	11889561, 12592387	Standard	NM_015557	NM_015557	NA	Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.4908G>A	1.37:g.6181169C>T		NA	O75032|Q5TG89|Q7LGH2|Q9UFR9	37	CCDS57.1																																																																																			CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000002823.2		-	ENST00000262450.3	Silent	SNP	1 : 6181169 - 6181169 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	140	13
ACSS1	84532	broad.mit.edu	37	20	25003612	25003612	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25003612C>T	ENST00000323482.4	-	5	1003	c.924G>A	c.(922-924)caG>caA	p.Q308Q	ACSS1_ENST00000432802.2_Silent_p.Q308Q|ACSS1_ENST00000542618.1_Silent_p.Q187Q|ACSS1_ENST00000537502.1_Silent_p.Q225Q	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	308					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGTAGCCTGCCTGGGTATGGA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	56	62			NA	NA	20		NA											NA				25003612		2203	4300	6503	SO:0001819	synonymous_variant				CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	84532	84532	6.2.1.1	Acyl-CoA synthetase family	16091	protein-coding gene	gene with protein product		614355	acetyl-Coenzyme A synthetase 2 (AMP forming)-like	ACAS2L	NA		Standard	NM_032501	NM_032501	NA	Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.924G>A	20.37:g.25003612C>T		NA	D3DW48|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	37	CCDS13167.1																																																																																			ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078386.2		-	ENST00000323482.4	Silent	SNP	20 : 25003612 - 25003612 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	186	19
DPP4	1803	broad.mit.edu	37	2	162865071	162865071	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162865071C>T	ENST00000360534.3	-	22	2548		c.e22+1		DPP4_ENST00000491591.1_Splice_Site	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	NA					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			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)	CAATTACATACCATAGTACTC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	75	76			NA	NA	2		NA											NA				162865071		2203	4300	6503	SO:0001630	splice_region_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.1987+1G>A	2.37:g.162865071C>T		NA	Q53TN1	37	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.018506	0.93404	.	.	ENSG00000197635	ENST00000360534	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1346	0.98019	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DPP4	162573317	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.765000	0.95021	0.655000	0.94253	.	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255079.2	Intron	-	ENST00000360534.3	Splice_Site	SNP	2 : 162865071 - 162865071 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	364	85
KIAA1614	57710	broad.mit.edu	37	1	180904329	180904329	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180904329C>T	ENST00000367588.4	+	5	1339	c.1284C>T	c.(1282-1284)agC>agT	p.S428S	KIAA1614_ENST00000367587.1_Silent_p.S49S	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	428										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGCACACGAGCGATTCCTCCA	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	15	14			NA	NA	1		NA											NA				180904329		2028	4180	6208	SO:0001819	synonymous_variant			AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835	57710	57710			29327	protein-coding gene	gene with protein product					NA		Standard	XM_046531	NM_020950	NA	Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.1284C>T	1.37:g.180904329C>T		NA	Q5VZ45|Q9HCF8	37	CCDS41442.1																																																																																			KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085151.1		+	ENST00000367588.4	Silent	SNP	1 : 180904329 - 180904329 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	107	23
AKAP4	8852	broad.mit.edu	37	X	49957477	49957477	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49957477G>A	ENST00000376056.2	-	5	2010	c.1860C>T	c.(1858-1860)atC>atT	p.I620I	AKAP4_ENST00000376064.3_Silent_p.I620I|AKAP4_ENST00000358526.2_Silent_p.I629I|AKAP4_ENST00000376058.2_Silent_p.I246I|AKAP4_ENST00000481402.1_5'UTR			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	629					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GCATTAGAACGATGTTTGACA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	137	146			NA	NA	X		NA											NA				49957477		2203	4300	6503	SO:0001819	synonymous_variant			AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081	8852	8852		A-kinase anchor proteins	374	protein-coding gene	gene with protein product	A-kinase anchor protein 82 kDa, testis-specific gene HI, protein kinase A anchoring protein 4, cancer/testis antigen 99	300185			NA	9822690, 9514854	Standard	NM_003886	NM_003886	NA	Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.1860C>T	X.37:g.49957477G>A		NA	A0AV85|O60904|O95246|Q5JQD1|Q5JQD2|Q5JQD3	37	CCDS14330.1																																																																																			AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056552.1		-	ENST00000376056.2	Silent	SNP	X : 49957477 - 49957477 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	712	180
PGP	283871	broad.mit.edu	37	16	2264199	2264199	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2264199G>A	ENST00000333503.7	-	1	609	c.580C>T	c.(580-582)Ctg>Ttg	p.L194L		NM_001042371.2	NP_001035830.1	A6NDG6	PGP_HUMAN	phosphoglycolate phosphatase	194					carbohydrate metabolic process		phosphoglycolate phosphatase activity			skin(1)	1						CCCACGAGCAGGCAGCCGGGC	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(63;906 1080 2092 17773 18795)							NA				0													10	12	12			NA	NA	16		NA											NA				2264199		2049	4163	6212	SO:0001819	synonymous_variant			BC035985	CCDS42104.1	16p13.3	2012-10-02				ENSG00000184207	283871	283871	3.1.3.18		8909	protein-coding gene	gene with protein product		172280			NA		Standard	NM_024118	NM_001042371	NA	Approved		uc002cpk.1	A6NDG6		ENST00000333503.7:c.580C>T	16.37:g.2264199G>A		NA		37	CCDS42104.1																																																																																			PGP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000435095.1		-	ENST00000333503.7	Silent	SNP	16 : 2264199 - 2264199 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	149	32
CEP72	55722	broad.mit.edu	37	5	653215	653215	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:653215A>G	ENST00000264935.5	+	12	1981	c.1891A>G	c.(1891-1893)Atg>Gtg	p.M631V	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	631					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CAAGAAGACCATGGCCCTGTT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	58	60			NA	NA	5		NA											NA				653215		2203	4300	6503	SO:0001583	missense			BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877	55722	55722			25547	protein-coding gene	gene with protein product					NA	10819331	Standard	NM_018140	NM_018140	NA	Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.1891A>G	5.37:g.653215A>G	ENSP00000264935:p.Met631Val	NA	B4DR26|Q9BV03|Q9BWM3|Q9NVR4	37	CCDS34126.1	.	.	.	.	.	.	.	.	.	.	A	1.946	-0.442362	0.04604	.	.	ENSG00000112877	ENST00000264935	T	0.09445	2.98	4.94	-5.89	0.02282	.	0.697067	0.13278	N	0.400000	T	0.06050	0.0157	L	0.33485	1.01	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.31336	-0.9947	10	0.30078	T	0.28	-4.3171	6.7257	0.23355	0.2447:0.4177:0.3375:0.0	.	631	Q9P209	CEP72_HUMAN	V	631	ENSP00000264935:M631V	ENSP00000264935:M631V	M	+	1	0	CEP72	706215	0.000000	0.05858	0.068000	0.19968	0.061000	0.15899	-1.330000	0.02675	-1.005000	0.03417	-0.425000	0.05940	ATG	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365967.3		+	ENST00000264935.5	Missense_Mutation	SNP	5 : 653215 - 653215 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	245	30
LY6K	54742	broad.mit.edu	37	8	143781978	143781978	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143781978C>T	ENST00000519387.1	+	1	447	c.33C>T	c.(31-33)gcC>gcT	p.A11A	LY6K_ENST00000522591.1_Silent_p.A11A|LY6K_ENST00000518841.1_Silent_p.A11A|LY6K_ENST00000292430.6_Silent_p.A11A|LY6K_ENST00000561179.1_Silent_p.A69A			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	11						anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TGGTCGTGGCCCTACCGCGGG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	17	16			NA	NA	8		NA											NA				143781978		2191	4290	6481	SO:0001819	synonymous_variant			AK092545	CCDS6385.1, CCDS6385.2, CCDS59114.1	8q24.3	2009-08-06				ENSG00000160886	54742	54742			24225	protein-coding gene	gene with protein product	cancer/testis antigen 97	615093			NA	12516096	Standard	NM_017527	NM_017527	NA	Approved	HSJ001348, FLJ35226, CT97	uc011ljv.2	Q17RY6		ENST00000519387.1:c.33C>T	8.37:g.143781978C>T		NA	O15227|Q9BVD7	37	CCDS59114.1	.	.	.	.	.	.	.	.	.	.	C	6.895	0.534679	0.13188	.	.	ENSG00000160886	ENST00000522591	.	.	.	1.81	0.905	0.19307	.	.	.	.	.	T	0.24275	0.0588	.	.	.	0.18873	N	0.999983	.	.	.	.	.	.	T	0.23655	-1.0182	4	.	.	.	.	4.1569	0.10265	0.0:0.7807:0.0:0.2193	.	.	.	.	L	30	.	.	P	+	2	0	LY6K	143778980	0.009000	0.17119	0.005000	0.12908	0.045000	0.14185	0.541000	0.23207	0.321000	0.23259	0.305000	0.20034	CCC	LY6K-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379957.2		+	ENST00000519387.1	Silent	SNP	8 : 143781978 - 143781978 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	74	14
CHPF	79586	broad.mit.edu	37	2	220404532	220404532	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220404532G>T	ENST00000243776.6	-	4	2149	c.1901C>A	c.(1900-1902)tCc>tAc	p.S634Y	CHPF_ENST00000535926.1_Missense_Mutation_p.S472Y	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	634						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTGCCAGCCGGAGATGGCATG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	77	76			NA	NA	2		NA											NA				220404532		2198	4292	6490	SO:0001583	missense			BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	79586	79586	2.4.1.175, 2.4.1.226	Beta 3-glycosyltransferases, Beta 4-glycosyltransferases	24291	protein-coding gene	gene with protein product	chondroitin sulfate synthase 2	610405			NA	11230166, 12716890	Standard	NM_024536	NM_024536	NA	Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.1901C>A	2.37:g.220404532G>T	ENSP00000243776:p.Ser634Tyr	NA	Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	37	CCDS2443.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945595	0.53079	.	.	ENSG00000123989	ENST00000243776;ENST00000535926	T;T	0.16457	2.34;2.34	4.62	4.62	0.57501	.	0.291280	0.34200	N	0.004164	T	0.33818	0.0876	L	0.61218	1.895	0.33336	D	0.569161	D	0.56521	0.976	P	0.62649	0.905	T	0.43861	-0.9365	10	0.56958	D	0.05	-17.1883	11.0376	0.47811	0.0:0.0:0.6841:0.3159	.	634	Q8IZ52	CHSS2_HUMAN	Y	634;472	ENSP00000243776:S634Y;ENSP00000445571:S472Y	ENSP00000243776:S634Y	S	-	2	0	CHPF	220112776	0.994000	0.37717	0.973000	0.42090	0.976000	0.68499	2.469000	0.45110	2.563000	0.86464	0.561000	0.74099	TCC	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130268.1		-	ENST00000243776.6	Missense_Mutation	SNP	2 : 220404532 - 220404532 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	922	68
PWWP2B	170394	broad.mit.edu	37	10	134219145	134219145	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134219145T>C	ENST00000305233.5	+	2	1200	c.1141T>C	c.(1141-1143)Tct>Cct	p.S381P	PWWP2B_ENST00000368609.4_Missense_Mutation_p.S381P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	381										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GGCGGACTTGTCTTCTGGAAG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	40	40			NA	NA	10		NA											NA				134219145		2201	4285	6486	SO:0001583	missense			AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813	170394	170394			25150	protein-coding gene	gene with protein product			PWWP domain containing 2	PWWP2	NA		Standard	NM_138499	NM_001098637	NA	Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.1141T>C	10.37:g.134219145T>C	ENSP00000306324:p.Ser381Pro	NA	A6NM90|B5MDQ1|Q5SZI0|Q6ZQX5|Q96F43	37	CCDS7667.2	.	.	.	.	.	.	.	.	.	.	T	12.28	1.889976	0.33348	.	.	ENSG00000171813	ENST00000305233;ENST00000368609	T;T	0.58210	0.35;1.33	4.51	3.27	0.37495	.	0.085660	0.50627	U	0.000103	T	0.54598	0.1868	L	0.32530	0.975	0.21020	N	0.999802	D	0.71674	0.998	D	0.65773	0.938	T	0.38757	-0.9646	10	0.29301	T	0.29	-10.9623	9.4798	0.38893	0.158:0.0:0.0:0.842	.	381	Q6NUJ5	PWP2B_HUMAN	P	381	ENSP00000306324:S381P;ENSP00000357598:S381P	ENSP00000306324:S381P	S	+	1	0	PWWP2B	134069135	0.972000	0.33761	0.209000	0.23619	0.039000	0.13416	1.739000	0.38217	1.815000	0.52974	0.460000	0.39030	TCT	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051075.3		+	ENST00000305233.5	Missense_Mutation	SNP	10 : 134219145 - 134219145 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	561	124
NMUR2	56923	broad.mit.edu	37	5	151771983	151771983	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151771983C>A	ENST00000255262.3	-	4	1182	c.1017G>T	c.(1015-1017)caG>caT	p.Q339H		NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	339					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AGATCACATTCTGGAATGCTG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	126	128			NA	NA	5		NA											NA				151771983		2203	4300	6503	SO:0001583	missense			AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911	56923	56923		GPCR / Class A : Neuromedin U receptors	16454	protein-coding gene	gene with protein product		605108		NMU2R	NA	8940772, 10894543	Standard	NM_020167	NM_020167	NA	Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.1017G>T	5.37:g.151771983C>A	ENSP00000255262:p.Gln339His	NA	Q7LC54|Q96AM5|Q9NRA6	37	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.493059	0.26774	.	.	ENSG00000132911	ENST00000255262	T	0.37584	1.19	5.0	3.16	0.36331	.	0.515296	0.17367	N	0.176803	T	0.25568	0.0622	L	0.34521	1.04	0.24922	N	0.991976	P	0.36438	0.553	B	0.35510	0.204	T	0.12578	-1.0542	10	0.52906	T	0.07	-3.5584	7.8999	0.29729	0.0:0.6997:0.1371:0.1632	.	339	Q9GZQ4	NMUR2_HUMAN	H	339	ENSP00000255262:Q339H	ENSP00000255262:Q339H	Q	-	3	2	NMUR2	151752176	0.497000	0.26067	0.167000	0.22817	0.225000	0.24961	0.854000	0.27791	1.213000	0.43380	0.467000	0.42956	CAG	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252439.1		-	ENST00000255262.3	Missense_Mutation	SNP	5 : 151771983 - 151771983 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	571	19
TMC4	147798	broad.mit.edu	37	19	54669172	54669172	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54669172A>G	ENST00000376591.4	-	6	1075	c.944T>C	c.(943-945)aTc>aCc	p.I315T	TMC4_ENST00000301187.4_Missense_Mutation_p.I309T|TMC4_ENST00000476013.2_Intron	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	315						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GTACAAGATGATGCGCTGGCG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	34	38			NA	NA	19		NA											NA				54669172		2203	4300	6503	SO:0001583	missense			AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608	147798	147798			22998	protein-coding gene	gene with protein product					NA	12812529, 12906855	Standard		XM_005277069	NA	Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.944T>C	19.37:g.54669172A>G	ENSP00000365776:p.Ile315Thr	NA	Q7Z5M3|Q8N5E4|Q8TBS7	37	CCDS46174.1	.	.	.	.	.	.	.	.	.	.	A	7.863	0.726483	0.15439	.	.	ENSG00000167608	ENST00000301187;ENST00000376591	T;T	0.48836	0.8;0.8	4.8	-9.6	0.00553	.	1.465370	0.03977	N	0.292608	T	0.22166	0.0534	N	0.12746	0.255	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.12156	0.004;0.007	T	0.11743	-1.0575	10	0.32370	T	0.25	1.9022	3.5511	0.07847	0.1261:0.1019:0.1674:0.6046	.	315;309	Q7Z404;Q7Z404-1	TMC4_HUMAN;.	T	309;315	ENSP00000301187:I309T;ENSP00000365776:I315T	ENSP00000301187:I309T	I	-	2	0	TMC4	59360984	0.000000	0.05858	0.000000	0.03702	0.723000	0.41478	-3.812000	0.00360	-2.500000	0.00511	0.529000	0.55759	ATC	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000156164.2		-	ENST00000376591.4	Missense_Mutation	SNP	19 : 54669172 - 54669172 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	143	23
LMO7	4008	broad.mit.edu	37	13	76429476	76429476	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:76429476G>A	ENST00000321797.8	+	27	4764	c.4043G>A	c.(4042-4044)gGt>gAt	p.G1348D	LMO7_ENST00000526202.1_Missense_Mutation_p.G1225D|LMO7_ENST00000465261.2_Intron|LMO7_ENST00000341547.4_Missense_Mutation_p.G1299D|LMO7_ENST00000377534.3_Intron|LMO7_ENST00000357063.3_Intron			Q8WWI1	LMO7_HUMAN	LIM domain 7	1633						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GAGTCCCTGGGTCTTTGTTAT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	121	129			NA	NA	13		NA											NA				76429476		2203	4300	6503	SO:0001583	missense			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153	4008	4008			6646	protein-coding gene	gene with protein product	F-box only protein 20	604362	LIM domain only 7	FBXO20	NA	9826547, 10531035	Standard	NM_005358	NM_005358	NA	Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.4043G>A	13.37:g.76429476G>A	ENSP00000317802:p.Gly1348Asp	NA	O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	37		.	.	.	.	.	.	.	.	.	.	G	32	5.117643	0.94385	.	.	ENSG00000136153	ENST00000341547;ENST00000321797;ENST00000526202	D;D;D	0.87256	-2.23;-2.23;-2.23	5.99	5.99	0.97316	.	0.159223	0.56097	D	0.000033	D	0.92811	0.7714	L	0.56396	1.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92382	0.5914	10	0.66056	D	0.02	-23.5131	20.4777	0.99188	0.0:0.0:1.0:0.0	.	1225;1299	E9PMS6;Q8WWI1-3	.;.	D	1299;1348;1225	ENSP00000342112:G1299D;ENSP00000317802:G1348D;ENSP00000431129:G1225D	ENSP00000317802:G1348D	G	+	2	0	LMO7	75327477	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.840000	0.97914	0.655000	0.94253	GGT	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000045301.3		+	ENST00000321797.8	Missense_Mutation	SNP	13 : 76429476 - 76429476 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	189	34
ZNF33B	7582	broad.mit.edu	37	10	43088932	43088932	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43088932C>A	ENST00000359467.3	-	5	1580	c.1466G>T	c.(1465-1467)aGa>aTa	p.R489I	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	489						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R489I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TATGTGAGTTCTCTGATGCTG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(137;1247 1767 16772 25727 43810)							NA				1	Substitution - Missense(1)	large_intestine(1)											98	92	94			NA	NA	10		NA											NA				43088932		2203	4299	6502	SO:0001583	missense			X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693	7582	7582		Zinc fingers, C2H2-type, -	13097	protein-coding gene	gene with protein product		194522	zinc finger protein 33b (KOX 31), zinc finger protein 11B	ZNF11B	NA	2014798	Standard	NM_006955	NM_006955	NA	Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.1466G>T	10.37:g.43088932C>A	ENSP00000352444:p.Arg489Ile	NA	Q06731|Q32MA2|Q86XY8|Q8NDW3	37	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.453187	0.26161	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.24908	1.83	2.58	1.63	0.23807	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.240647	0.21572	N	0.072393	T	0.19127	0.0459	L	0.53671	1.685	0.36585	D	0.873766	B	0.26876	0.162	B	0.21708	0.036	T	0.11717	-1.0576	10	0.49607	T	0.09	.	3.204	0.06659	0.2641:0.5903:0.0:0.1456	.	489	Q06732	ZN33B_HUMAN	I	489;455	ENSP00000352444:R489I	ENSP00000352444:R489I	R	-	2	0	ZNF33B	42408938	0.000000	0.05858	0.997000	0.53966	0.760000	0.43138	-0.204000	0.09425	0.639000	0.30564	0.416000	0.27883	AGA	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding			-	ENST00000359467.3	Missense_Mutation	SNP	10 : 43088932 - 43088932 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	449	83
RBMS1	5937	broad.mit.edu	37	2	161223761	161223761	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:161223761T>C	ENST00000348849.3	-	2	647	c.217A>G	c.(217-219)Acc>Gcc	p.T73A	RBMS1_ENST00000409972.1_Missense_Mutation_p.T40A|RBMS1_ENST00000409289.2_Missense_Mutation_p.T40A|RBMS1_ENST00000409075.1_Missense_Mutation_p.T40A|RBMS1_ENST00000392753.3_Missense_Mutation_p.T73A|RBMS1_ENST00000474820.1_5'UTR	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	73	RRM 1.				DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding		PLA2R1/RBMS1(2)		NA						TGGTCGGTGGTGTGGGGAGGC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	118	121			NA	NA	2		NA											NA				161223761		2203	4300	6503	SO:0001583	missense			D28482	CCDS2213.1	2q24.2	2013-02-12			ENSG00000153250	ENSG00000153250	5937	5937		RNA binding motif (RRM) containing	9907	protein-coding gene	gene with protein product	suppressor of cdc 2 (cdc13) with RNA binding motif 2, c-myc gene single strand binding protein 2	602310	chromosome 2 open reading frame 12	C2orf12	NA	8041632, 8134115, 7838710	Standard	NM_016836	NM_016836	NA	Approved	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764	uc002ubo.3	P29558	OTTHUMG00000132031	ENST00000348849.3:c.217A>G	2.37:g.161223761T>C	ENSP00000294904:p.Thr73Ala	NA	Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	37	CCDS2213.1	.	.	.	.	.	.	.	.	.	.	T	33	5.202186	0.94997	.	.	ENSG00000153250	ENST00000348849;ENST00000409075;ENST00000409289;ENST00000392753;ENST00000409972;ENST00000428519	T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33	5.62	5.62	0.85841	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.32971	0.0847	L	0.38692	1.165	0.80722	D	1	D;P;D;D;D;D	0.64830	0.994;0.938;0.99;0.97;0.973;0.987	D;P;D;D;P;D	0.73380	0.968;0.826;0.98;0.928;0.908;0.932	T	0.03403	-1.1040	10	0.72032	D	0.01	.	15.78	0.78252	0.0:0.0:0.0:1.0	.	40;73;73;40;40;73	D3DPB2;P29558;P29558-2;E7EPF2;E7ETU5;B4DN88	.;RBMS1_HUMAN;.;.;.;.	A	73;40;40;73;40;40	ENSP00000294904:T73A;ENSP00000386347:T40A;ENSP00000386571:T40A;ENSP00000376508:T73A;ENSP00000387280:T40A;ENSP00000389016:T40A	ENSP00000294904:T73A	T	-	1	0	RBMS1	160932007	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.997000	0.88414	2.255000	0.74692	0.533000	0.62120	ACC	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255043.4		-	ENST00000348849.3	Missense_Mutation	SNP	2 : 161223761 - 161223761 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	607	155
C19orf35	374872	broad.mit.edu	37	19	2280862	2280862	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2280862C>T	ENST00000342063.3	-	2	162	c.69G>A	c.(67-69)acG>acA	p.T23T		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	23										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				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)		GGTTGCTATACGTGGGCTGAG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	26	25			NA	NA	19		NA											NA				2280862		2199	4298	6497	SO:0001819	synonymous_variant			AK127680	CCDS12087.1	19p13.3	2012-10-26			ENSG00000188305	ENSG00000188305	374872	374872			24793	protein-coding gene	gene with protein product					NA		Standard	NM_198532	NM_198532	NA	Approved	FLJ45778	uc002lvn.2	Q6ZS72	OTTHUMG00000178460	ENST00000342063.3:c.69G>A	19.37:g.2280862C>T		NA		37	CCDS12087.1																																																																																			C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442080.1		-	ENST00000342063.3	Silent	SNP	19 : 2280862 - 2280862 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	169	35
SGTA	6449	broad.mit.edu	37	19	2769007	2769007	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2769007C>T	ENST00000221566.2	-	2	221	c.60G>A	c.(58-60)cgG>cgA	p.R20R		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	20					interspecies interaction between organisms	cytoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCCCCGTGCCGGAGCTGGT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	81	79			NA	NA	19		NA											NA				2769007		2203	4300	6503	SO:0001819	synonymous_variant			AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969	6449	6449		Tetratricopeptide (TTC) repeat domain containing	10819	protein-coding gene	gene with protein product		603419	small glutamine-rich tetratricopeptide repeat (TPR)-containing	SGT	NA	9740675, 12735788	Standard	NM_003021	NM_003021	NA	Approved		uc002lwi.1	O43765		ENST00000221566.2:c.60G>A	19.37:g.2769007C>T		NA	D6W610|Q6FIA9|Q9BTZ9	37	CCDS12094.1																																																																																			SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451448.2		-	ENST00000221566.2	Silent	SNP	19 : 2769007 - 2769007 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	537	91
OR8K5	219453	broad.mit.edu	37	11	55927041	55927041	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55927041G>T	ENST00000313447.1	-	1	752	c.753C>A	c.(751-753)ttC>ttA	p.F251L		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GAGACCCATAGAACACAACCA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	89	92			NA	NA	11		NA											NA				55927041		2201	4296	6497	SO:0001583	missense			BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752	219453	219453		GPCR / Class A : Olfactory receptors	15315	protein-coding gene	gene with protein product					NA		Standard	NM_001004058	NM_001004058	NA	Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.753C>A	11.37:g.55927041G>T	ENSP00000323853:p.Phe251Leu	NA	Q6IFB5	37	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322342	0.60634	.	.	ENSG00000181752	ENST00000313447	T	0.00285	8.3	3.98	3.98	0.46160	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000013	T	0.00608	0.0020	M	0.83692	2.655	0.26738	N	0.970449	D	0.89917	1.0	D	0.87578	0.998	T	0.37103	-0.9720	10	0.56958	D	0.05	.	8.3924	0.32537	0.1134:0.0:0.8866:0.0	.	251	Q8NH50	OR8K5_HUMAN	L	251	ENSP00000323853:F251L	ENSP00000323853:F251L	F	-	3	2	OR8K5	55683617	0.000000	0.05858	0.990000	0.47175	0.977000	0.68977	-0.172000	0.09868	2.202000	0.70862	0.465000	0.42564	TTC	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391543.1		-	ENST00000313447.1	Missense_Mutation	SNP	11 : 55927041 - 55927041 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	398	76
RASSF8	11228	broad.mit.edu	37	12	26217586	26217586	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:26217586C>T	ENST00000405154.2	+	3	458	c.259C>T	c.(259-261)Cga>Tga	p.R87*	RASSF8_ENST00000381352.3_Nonsense_Mutation_p.R87*|RASSF8_ENST00000282884.9_Nonsense_Mutation_p.R87*|RASSF8_ENST00000542865.1_Nonsense_Mutation_p.R87*|RASSF8_ENST00000541490.1_Nonsense_Mutation_p.R87*	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	87					signal transduction					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					TCTCAGTGAGCGACCCACTTC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	106	106			NA	NA	12		NA											NA				26217586		2203	4300	6503	SO:0001587	stop_gained			U82396	CCDS8705.1, CCDS53765.1	12p12.3	2013-05-30	2008-02-22	2005-09-14	ENSG00000123094	ENSG00000123094	11228	11228			13232	protein-coding gene	gene with protein product		608231	chromosome 12 open reading frame 2	C12orf2	NA		Standard	NM_007211	NM_007211	NA	Approved	HoJ-1	uc001rgx.3	Q8NHQ8	OTTHUMG00000169087	ENST00000405154.2:c.259C>T	12.37:g.26217586C>T	ENSP00000384491:p.Arg87*	NA	A8K1Z0|O95647|Q5SCI2|Q76KB6	37	CCDS53765.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.687605	0.68157	.	.	ENSG00000123094	ENST00000381352;ENST00000535907;ENST00000405154;ENST00000542865;ENST00000541490;ENST00000542004;ENST00000542315;ENST00000541218;ENST00000282884;ENST00000545413;ENST00000541934	.	.	.	5.19	3.23	0.37069	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.1902	12.9569	0.58432	0.4002:0.5998:0.0:0.0	.	.	.	.	X	87	.	ENSP00000282884:R87X	R	+	1	2	RASSF8	26108853	0.999000	0.42202	0.998000	0.56505	0.500000	0.33767	0.663000	0.25053	1.319000	0.45190	0.591000	0.81541	CGA	RASSF8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402209.2		+	ENST00000405154.2	Nonsense_Mutation	SNP	12 : 26217586 - 26217586 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	699	150
CNNM4	26504	broad.mit.edu	37	2	97427977	97427977	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97427977A>C	ENST00000377075.2	+	1	1339	c.1241A>C	c.(1240-1242)gAg>gCg	p.E414A		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	414	CBS 1.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						TTCGAAGACGAGCAGTCCAAT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	134	136			NA	NA	2		NA											NA				97427977		2203	4300	6503	SO:0001583	missense			AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158	26504	26504			105	protein-coding gene	gene with protein product		607805	cyclin M4	ACDP4	NA	21393841, 24194943	Standard	NM_020184	XM_005263914	NA	Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1241A>C	2.37:g.97427977A>C	ENSP00000366275:p.Glu414Ala	NA	Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	37	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	A	16.69	3.193286	0.58017	.	.	ENSG00000158158	ENST00000377075	T	0.77489	-1.1	5.05	5.05	0.67936	Cystathionine beta-synthase, core (1);	0.118012	0.56097	D	0.000032	D	0.87724	0.6249	M	0.82056	2.57	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	D	0.89117	0.3500	10	0.62326	D	0.03	-6.8455	13.8067	0.63236	1.0:0.0:0.0:0.0	.	414	Q6P4Q7	CNNM4_HUMAN	A	414	ENSP00000366275:E414A	ENSP00000366275:E414A	E	+	2	0	CNNM4	96791704	1.000000	0.71417	0.993000	0.49108	0.469000	0.32828	9.281000	0.95811	1.909000	0.55274	0.533000	0.62120	GAG	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252954.1		+	ENST00000377075.2	Missense_Mutation	SNP	2 : 97427977 - 97427977 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	765	173
LRCH3	84859	broad.mit.edu	37	3	197541787	197541787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197541787C>T	ENST00000438796.2	+	2	315	c.271C>T	c.(271-273)Cga>Tga	p.R91*	LRCH3_ENST00000334859.4_Nonsense_Mutation_p.R91*|LRCH3_ENST00000425562.2_Nonsense_Mutation_p.R91*|LRCH3_ENST00000414675.2_Nonsense_Mutation_p.R91*|LRCH3_ENST00000441090.2_Intron			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	91						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		AGACCTGTCGCGAAATCGCCT	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	42	41			NA	NA	3		NA											NA				197541787		2200	4296	6496	SO:0001587	stop_gained			AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001	84859	84859			28637	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_032773	NM_032773	NA	Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000438796.2:c.271C>T	3.37:g.197541787C>T	ENSP00000399751:p.Arg91*	NA	Q96FP9|Q9NT52	37		.	.	.	.	.	.	.	.	.	.	C	29.5	5.012238	0.93346	.	.	ENSG00000186001	ENST00000438796;ENST00000414675;ENST00000334859;ENST00000425562	.	.	.	5.6	3.73	0.42828	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.1685	13.5675	0.61826	0.4031:0.5969:0.0:0.0	.	.	.	.	X	91	.	ENSP00000334375:R91X	R	+	1	2	LRCH3	199026184	0.993000	0.37304	1.000000	0.80357	0.993000	0.82548	1.089000	0.30890	1.360000	0.45960	0.650000	0.86243	CGA	LRCH3-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000339960.1		+	ENST00000438796.2	Nonsense_Mutation	SNP	3 : 197541787 - 197541787 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	232	46
TFB2M	64216	broad.mit.edu	37	1	246707824	246707824	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:246707824G>A	ENST00000366514.4	-	7	1203	c.1018C>T	c.(1018-1020)Cgt>Tgt	p.R340C		NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	340					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			TTTACTCACCGTAAGTGGTCT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	95	92			NA	NA	1		NA											NA				246707824		2203	4300	6503	SO:0001630	splice_region_variant			AK026835	CCDS1627.1	1q44	2008-02-05			ENSG00000162851	ENSG00000162851	64216	64216			18559	protein-coding gene	gene with protein product		607055			NA		Standard	NM_022366	NM_022366	NA	Approved	FLJ23182, FLJ22661, Hkp1	uc001ibn.3	Q9H5Q4	OTTHUMG00000040091	ENST00000366514.4:c.1019+1C>T	1.37:g.246707824G>A		NA	Q9H626	37	CCDS1627.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.878893	0.33162	.	.	ENSG00000162851	ENST00000366514	T	0.32753	1.44	5.12	-1.46	0.08800	.	0.696260	0.12484	N	0.464829	T	0.37945	0.1022	L	0.44542	1.39	0.09310	N	1	D	0.76494	0.999	P	0.61275	0.886	T	0.26883	-1.0090	10	0.72032	D	0.01	0.5149	8.2217	0.31545	0.0852:0.0:0.2499:0.6649	.	340	Q9H5Q4	TFB2M_HUMAN	C	340	ENSP00000355471:R340C	ENSP00000355471:R340C	R	-	1	0	TFB2M	244774447	0.641000	0.27251	0.013000	0.15412	0.052000	0.14988	0.524000	0.22940	-0.013000	0.14199	0.655000	0.94253	CGT	TFB2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096673.1	Missense_Mutation	-	ENST00000366514.4	Splice_Site	SNP	1 : 246707824 - 246707824 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	489	66
C21orf49	54067	broad.mit.edu	37	21	34166106	34166106	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34166106G>A	ENST00000477513.1	+	3	244				C21orf49_ENST00000382378.1_Intron|C21orf49_ENST00000453404.1_Intron|C21orf49_ENST00000382377.3_Intron|C21orf62_ENST00000487113.1_Silent_p.S209S|C21orf62_ENST00000536776.1_Silent_p.S209S|C21orf62_ENST00000490358.1_Silent_p.S209S|C21orf62_ENST00000479548.1_Silent_p.S209S|C21orf49_ENST00000382375.4_Intron					chromosome 21 open reading frame 49	NA											NA						AGCTTTTGTTGCTTGGCATTG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	108	110			NA	NA	21		NA											NA				34166106		1893	4112	6005	SO:0001627	intron_variant					21q22.11	2013-01-15			ENSG00000205930	ENSG00000205930	54067	54067			1290	other	unknown					NA		Standard	NR_024622	NR_024622	NA	Approved		uc002yqu.4	Q17RA5	OTTHUMG00000064992	ENST00000477513.1:c.43-3143G>A	21.37:g.34166106G>A		NA		37																																																																																				C21orf49-006	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000193339.1		+	ENST00000477513.1	Intron	SNP	21 : 34166106 - 34166106 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	330	110
MDN1	23195	broad.mit.edu	37	6	90463282	90463282	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90463282C>A	ENST00000369393.3	-	22	3139	c.3024G>T	c.(3022-3024)aaG>aaT	p.K1008N	MDN1_ENST00000428876.1_Missense_Mutation_p.K1008N			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1008					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GACAGATGAGCTTCTGAACTA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	135	136			NA	NA	6		NA											NA				90463282		2203	4300	6503	SO:0001583	missense			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159	23195	23195			18302	protein-coding gene	gene with protein product					NA	9205841, 12102729	Standard		XM_005248699	NA	Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.3024G>T	6.37:g.90463282C>A	ENSP00000358400:p.Lys1008Asn	NA	O15019|Q5T794	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566399	0.27915	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.19250	3.92;3.92;2.16	5.91	-0.626	0.11544	.	0.054527	0.64402	D	0.000001	T	0.05593	0.0147	L	0.45698	1.435	0.45183	D	0.998198	B;B	0.24533	0.105;0.013	B;B	0.19391	0.025;0.016	T	0.18555	-1.0333	10	0.23302	T	0.38	.	6.1607	0.20362	0.1198:0.5202:0.0:0.36	.	935;1008	Q5T795;Q9NU22	.;MDN1_HUMAN	N	1008;1008;935	ENSP00000358400:K1008N;ENSP00000413970:K1008N;ENSP00000409664:K935N	ENSP00000358400:K1008N	K	-	3	2	MDN1	90520003	0.996000	0.38824	0.999000	0.59377	0.940000	0.58332	0.386000	0.20702	0.127000	0.18452	-0.140000	0.14226	AAG	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041514.2		-	ENST00000369393.3	Missense_Mutation	SNP	6 : 90463282 - 90463282 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	567	98
AKAP13	11214	broad.mit.edu	37	15	86124899	86124899	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86124899G>A	ENST00000394518.2	+	7	3695	c.3600G>A	c.(3598-3600)gaG>gaA	p.E1200E	AKAP13_ENST00000361243.2_Silent_p.E1200E	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1200					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CAGACATGGAGCTCTCAGCCC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(94;603 1453 3280 32295 32951)							NA				0													57	55	55			NA	NA	15		NA											NA				86124899		2202	4299	6501	SO:0001819	synonymous_variant			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776	11214	11214		A-kinase anchor proteins, Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	371	protein-coding gene	gene with protein product		604686	lymphoid blast crisis oncogene	LBC	NA	9627117, 1860836	Standard	NM_007200	NM_007200	NA	Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.3600G>A	15.37:g.86124899G>A		NA	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	37	CCDS32319.1																																																																																			AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417318.1		+	ENST00000394518.2	Silent	SNP	15 : 86124899 - 86124899 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	242	9
HAUS3	79441	broad.mit.edu	37	4	2242216	2242216	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2242216C>T	ENST00000243706.4	-	2	687	c.458G>A	c.(457-459)gGa>gAa	p.G153E	HAUS3_ENST00000443786.2_Missense_Mutation_p.G153E|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000506763.1_Missense_Mutation_p.G153E|POLN_ENST00000515357.1_Intron	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	153					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ATTTAGAATTCCTTGACTCTG	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	124	125			NA	NA	4		NA											NA				2242216		2203	4300	6503	SO:0001583	missense			AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367	79441	79441		HAUS augmin-like complex subunits	28719	protein-coding gene	gene with protein product		613430	chromosome 4 open reading frame 15	C4orf15	NA	19427217, 19812674	Standard	NM_024511	NM_024511	NA	Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.458G>A	4.37:g.2242216C>T	ENSP00000243706:p.Gly153Glu	NA	O43606|Q8TAZ5|Q9BTJ9	37	CCDS33941.1	.	.	.	.	.	.	.	.	.	.	C	9.167	1.020179	0.19433	.	.	ENSG00000214367	ENST00000506763;ENST00000243706;ENST00000443786	T;T	0.39997	1.05;1.05	5.29	2.27	0.28462	.	0.300119	0.28683	U	0.014487	T	0.23410	0.0566	L	0.32530	0.975	0.09310	N	1	B;B	0.17667	0.023;0.023	B;B	0.19946	0.027;0.01	T	0.29088	-1.0023	10	0.02654	T	1	-47.7984	6.0954	0.20017	0.0:0.5297:0.29:0.1803	.	153;153	B4DF64;Q68CZ6	.;HAUS3_HUMAN	E	153	ENSP00000243706:G153E;ENSP00000392903:G153E	ENSP00000243706:G153E	G	-	2	0	HAUS3	2212014	0.000000	0.05858	0.528000	0.27938	0.982000	0.71751	0.596000	0.24044	0.640000	0.30582	0.655000	0.94253	GGA	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357446.1		-	ENST00000243706.4	Missense_Mutation	SNP	4 : 2242216 - 2242216 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	374	48
SLC44A5	204962	broad.mit.edu	37	1	75688057	75688057	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75688057C>A	ENST00000370855.5	-	14	1187	c.1074G>T	c.(1072-1074)aaG>aaT	p.K358N	SLC44A5_ENST00000535611.1_Missense_Mutation_p.K228N|SLC44A5_ENST00000370859.3_Missense_Mutation_p.K358N	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	358						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TGCTTCCTTCCTTCAGCAGGA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	126	131			NA	NA	1		NA											NA				75688057		2203	4300	6503	SO:0001583	missense			BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968	204962	204962		Solute carriers	28524	protein-coding gene	gene with protein product					NA	15715662	Standard	NM_152697	NM_152697	NA	Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1074G>T	1.37:g.75688057C>A	ENSP00000359892:p.Lys358Asn	NA	B5MCU3|Q4G0K0|Q8NA44|Q8NB86	37	CCDS667.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.319973	0.60634	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.27557	1.66;1.66;1.66	5.06	4.14	0.48551	.	0.189164	0.56097	D	0.000037	T	0.41003	0.1140	M	0.85462	2.755	0.58432	D	0.99999	P;P;P;B;P	0.51351	0.767;0.944;0.767;0.338;0.883	P;P;P;B;P	0.56865	0.562;0.808;0.562;0.328;0.565	T	0.48151	-0.9060	10	0.66056	D	0.02	-5.5689	9.8266	0.40916	0.0:0.7842:0.1415:0.0743	.	352;397;358;358;397	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	N	358;397;358;228;351	ENSP00000359896:K358N;ENSP00000359892:K358N;ENSP00000443090:K228N	ENSP00000359892:K358N	K	-	3	2	SLC44A5	75460645	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	1.368000	0.34216	1.444000	0.47605	0.655000	0.94253	AAG	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026921.1		-	ENST00000370855.5	Missense_Mutation	SNP	1 : 75688057 - 75688057 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	244	36
CWH43	80157	broad.mit.edu	37	4	49034600	49034600	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:49034600G>A	ENST00000513409.1	+	12	1630	c.1445G>A	c.(1444-1446)aGa>aAa	p.R482K	CWH43_ENST00000226432.4_Missense_Mutation_p.R509K			Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	509					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GCTTTGTCAAGATACCCAATT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													277	242	254			NA	NA	4		NA											NA				49034600		2203	4300	6503	SO:0001583	missense				CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182	80157	80157			26133	protein-coding gene	gene with protein product					NA	17714445, 17761529	Standard	NM_025087	NM_025087	NA	Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000513409.1:c.1445G>A	4.37:g.49034600G>A	ENSP00000422802:p.Arg482Lys	NA	B2RPD7	37		.	.	.	.	.	.	.	.	.	.	G	0.774	-0.764591	0.02996	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.78246	-1.16;-1.16	5.24	5.24	0.73138	Endonuclease/exonuclease/phosphatase (1);	0.000000	0.64402	D	0.000016	T	0.45955	0.1368	N	0.00652	-1.29	0.38358	D	0.944522	B	0.33022	0.394	B	0.24974	0.057	T	0.58317	-0.7657	9	.	.	.	.	16.7881	0.85579	0.0:0.0:1.0:0.0	.	509	Q9H720	PG2IP_HUMAN	K	509;482	ENSP00000226432:R509K;ENSP00000422802:R482K	.	R	+	2	0	CWH43	48729357	0.998000	0.40836	0.865000	0.33974	0.101000	0.19017	4.487000	0.60293	2.737000	0.93849	0.561000	0.74099	AGA	CWH43-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000361404.2		+	ENST00000513409.1	Missense_Mutation	SNP	4 : 49034600 - 49034600 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1393	229
MKL1	57591	broad.mit.edu	37	22	40814828	40814828	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40814828C>T	ENST00000402042.1	-	11	2060	c.1464G>A	c.(1462-1464)acG>acA	p.T488T	MKL1_ENST00000355630.3_Silent_p.T538T|MKL1_ENST00000407029.1_Silent_p.T538T|MKL1_ENST00000396617.3_Silent_p.T538T	NM_001282661.1	NP_001269590.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	538					positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGAGCATGCGCGTCAGCGCCT	0.706		NA	T	RBM15	acute megakaryocytic leukemia									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	0								C		1,4399		0,1,2199	16	18	18		1614	-9.6	0.5	22		18	0,8586		0,0,4293	no	coding-synonymous	MKL1	NM_020831.3		0,1,6492	TT,TC,CC	NA	0.0,0.0227,0.0077		538/932	40814828	1,12985	2200	4293	6493	SO:0001819	synonymous_variant			AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588	57591	57591			14334	protein-coding gene	gene with protein product	megakaryocytic acute leukemia, myocardin-related transcription factor A, basic, SAP and coiled-coil domain	606078			NA	11431691, 12019265, 14970199	Standard	NM_020831	XM_005261692	NA	Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000402042.1:c.1464G>A	22.37:g.40814828C>T		NA	Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	37																																																																																				MKL1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000321523.1		-	ENST00000402042.1	Silent	SNP	22 : 40814828 - 40814828 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	236	46
ARMC12	221481	broad.mit.edu	37	6	35705059	35705059	+	Silent	SNP	G	G	A	rs56183341	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35705059G>A	ENST00000288065.2	+	1	201	c.174G>A	c.(172-174)ccG>ccA	p.P58P	ARMC12_ENST00000373866.3_Intron|ARMC12_ENST00000373869.3_Intron	NM_145028.3	NP_659465.2	Q5T9G4	CF081_HUMAN	armadillo repeat containing 12	55							binding				NA						GTGAGTGTCCGGGCCCTGGGG	0.612		NA									OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	22	0.01	0.04	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0101	1	LOWCOV,EXOME	NA	NA	2e-04	SNP								NA				0								G		106,4300	81.9+/-120.4	1,104,2098	68	64	65		174	-0.4	0	6	dbSNP_129	65	0,8600		0,0,4300	no	coding-synonymous	C6orf81	NM_145028.3		1,104,6398	AA,AG,GG	NA	0.0,2.4058,0.815		58/368	35705059	106,12900	2203	4300	6503	SO:0001819	synonymous_variant			AK058119	CCDS4809.1, CCDS69093.1, CCDS69094.1	6p21.31	2013-02-14	2011-12-14	2011-12-14	ENSG00000157343	ENSG00000157343	221481	221481		Armadillo repeat containing	21099	protein-coding gene	gene with protein product			chromosome 6 open reading frame 81	C6orf81	NA		Standard	NM_145028	XM_005248920	NA	Approved	FLJ25390	uc003ola.3	Q5T9G4	OTTHUMG00000014577	ENST00000288065.2:c.174G>A	6.37:g.35705059G>A		857	Q8NEB2|Q96LL8	37	CCDS4809.1																																																																																			ARMC12-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355818.1		+	ENST00000288065.2	Silent	SNP	6 : 35705059 - 35705059 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	46
PTPDC1	138639	broad.mit.edu	37	9	96846893	96846893	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96846893C>T	ENST00000288976.3	+	1	148	c.81C>T	c.(79-81)acC>acT	p.T27T	PTPDC1_ENST00000375360.3_Intron	NM_001253829.1|NM_152422.4	NP_001240758.1|NP_689635.3	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	0				K -> T (in Ref. 1; AAO13168).			protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						GGCACTCCACCTCAGACCCAG	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	34	33			NA	NA	9		NA											NA				96846893		2200	4296	6496	SO:0001819	synonymous_variant			BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079	138639	138639		Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s	30184	protein-coding gene	gene with protein product	protein tyrosine phosphatase PTP9Q22				NA	14702039	Standard	NM_177995, NM_152422	NM_152422	NA	Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000288976.3:c.81C>T	9.37:g.96846893C>T		NA	Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	37	CCDS6708.1																																																																																			PTPDC1-002	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053171.2		+	ENST00000288976.3	Silent	SNP	9 : 96846893 - 96846893 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	357	88
TROAP	10024	broad.mit.edu	37	12	49719388	49719388	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49719388G>A	ENST00000551245.1	+	4	553	c.442G>A	c.(442-444)Gct>Act	p.A148T	TROAP_ENST00000257909.3_Missense_Mutation_p.A148T			Q12815	TROAP_HUMAN	trophinin associated protein	148					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GCCTAGTCTGGCTAAAAGAGT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	59	57			NA	NA	12		NA											NA				49719388		2203	4300	6503	SO:0001583	missense			U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451	10024	10024			12327	protein-coding gene	gene with protein product	tastin	603872			NA	7758945	Standard	NM_005480	NM_005480	NA	Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000551245.1:c.442G>A	12.37:g.49719388G>A	ENSP00000447509:p.Ala148Thr	NA	Q8N5B2	37		.	.	.	.	.	.	.	.	.	.	G	24.4	4.532898	0.85812	.	.	ENSG00000135451	ENST00000551245;ENST00000257909;ENST00000547807	T;T;T	0.21932	1.98;1.98;1.98	5.37	4.48	0.54585	.	0.000000	0.53938	D	0.000047	T	0.36441	0.0967	L	0.47190	1.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.969	T	0.10222	-1.0639	10	0.87932	D	0	-10.8552	10.2384	0.43297	0.0915:0.0:0.9085:0.0	.	148;148	F8W130;Q12815	.;TROAP_HUMAN	T	148	ENSP00000447509:A148T;ENSP00000257909:A148T;ENSP00000446646:A148T	ENSP00000257909:A148T	A	+	1	0	TROAP	48005655	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.930000	0.63462	1.253000	0.44018	0.655000	0.94253	GCT	TROAP-003	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000404342.1		+	ENST00000551245.1	Missense_Mutation	SNP	12 : 49719388 - 49719388 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	415	52
TNNI3	7137	broad.mit.edu	37	19	55665401	55665401	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55665401C>A	ENST00000344887.5	-	7	688	c.546G>T	c.(544-546)gaG>gaT	p.E182D	TNNI3_ENST00000588882.1_Missense_Mutation_p.E157D	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	182					cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CACTCACCTTCTCGGTGTCCT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	69	68			NA	NA	19		NA											NA				55665401		2061	4216	6277	SO:0001583	missense			M64247	CCDS42628.1	19q13.4	2014-09-17	2005-09-12			ENSG00000129991	7137	7137			11947	protein-coding gene	gene with protein product		191044	troponin I, cardiac, cardiomyopathy, dilated 2A (autosomal recessive)	CMD2A	NA	9605869, 9241277, 10806205	Standard		NM_000363	NA	Approved	TNNC1, CMH7	uc002qjg.4	P19429		ENST00000344887.5:c.546G>T	19.37:g.55665401C>A	ENSP00000341838:p.Glu182Asp	NA		37	CCDS42628.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374201	0.42105	.	.	ENSG00000129991	ENST00000344887	D	0.94862	-3.54	4.72	3.67	0.42095	.	0.379769	0.24211	N	0.040530	D	0.88880	0.6557	L	0.31752	0.955	0.45250	D	0.998251	B	0.02656	0.0	B	0.01281	0.0	D	0.84146	0.0420	10	0.52906	T	0.07	-10.4701	7.9263	0.29876	0.0:0.7478:0.1621:0.0902	.	182	P19429	TNNI3_HUMAN	D	182	ENSP00000341838:E182D	ENSP00000341838:E182D	E	-	3	2	TNNI3	60357213	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	2.445000	0.44899	1.103000	0.41568	0.585000	0.79938	GAG	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452098.1		-	ENST00000344887.5	Missense_Mutation	SNP	19 : 55665401 - 55665401 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	664	125
LRP1B	53353	broad.mit.edu	37	2	141283540	141283540	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141283540G>A	ENST00000389484.3	-	49	8870	c.7899C>T	c.(7897-7899)ttC>ttT	p.F2633F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2633	LDL-receptor class A 14.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAAGCTTATAGAAATGTGTGC	0.393		NA								TSP Lung(27;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(99;50 2074 2507 20106)							NA				0													98	92	94			NA	NA	2		NA											NA				141283540		2203	4300	6503	SO:0001819	synonymous_variant			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702	53353	53353		Low density lipoprotein receptors	6693	protein-coding gene	gene with protein product	LRP-deleted in tumors	608766			NA	10766186	Standard	NM_018557	NM_018557	NA	Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7899C>T	2.37:g.141283540G>A		NA	Q8WY29|Q8WY30|Q8WY31	37	CCDS2182.1																																																																																			LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254736.2		-	ENST00000389484.3	Silent	SNP	2 : 141283540 - 141283540 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	304	15
GMEB1	10691	broad.mit.edu	37	1	29037105	29037105	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29037105A>C	ENST00000373816.1	+	9	1080	c.942A>C	c.(940-942)agA>agC	p.R314S	GMEB1_ENST00000294409.2_Missense_Mutation_p.R324S|GMEB1_ENST00000361872.4_Missense_Mutation_p.R314S|GMEB1_ENST00000480454.1_3'UTR	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TAGACAACAGAAGGAACCAAG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													191	169	177			NA	NA	1		NA											NA				29037105		2203	4300	6503	SO:0001583	missense			AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419	10691	10691			4370	protein-coding gene	gene with protein product		604409			NA	10386584, 10523663	Standard	NM_006582	NM_006582	NA	Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000373816.1:c.942A>C	1.37:g.29037105A>C	ENSP00000362922:p.Arg314Ser	NA	B1AT48|Q9NWH1|Q9UKD0	37	CCDS328.1	.	.	.	.	.	.	.	.	.	.	A	16.47	3.133479	0.56828	.	.	ENSG00000162419	ENST00000373816;ENST00000456852;ENST00000361872;ENST00000294409	T;T;T	0.58940	0.3;0.3;0.3	5.38	-1.54	0.08584	.	0.049383	0.85682	D	0.000000	T	0.46034	0.1372	L	0.56769	1.78	0.20403	N	0.999907	P;P	0.39480	0.675;0.462	B;B	0.30943	0.122;0.063	T	0.45425	-0.9262	10	0.46703	T	0.11	-27.8777	13.9953	0.64392	0.2001:0.0:0.7999:0.0	.	324;314	Q9Y692;B1AT47	GMEB1_HUMAN;.	S	314;290;314;324	ENSP00000362922:R314S;ENSP00000355186:R314S;ENSP00000294409:R324S	ENSP00000294409:R324S	R	+	3	2	GMEB1	28909692	0.997000	0.39634	0.992000	0.48379	0.998000	0.95712	0.286000	0.18902	-0.280000	0.09154	0.529000	0.55759	AGA	GMEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000010331.1		+	ENST00000373816.1	Missense_Mutation	SNP	1 : 29037105 - 29037105 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	510	103
SYK	6850	broad.mit.edu	37	9	93606436	93606436	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93606436G>A	ENST00000375754.4	+	2	404	c.256G>A	c.(256-258)Gcc>Acc	p.A86T	SYK_ENST00000375747.1_Missense_Mutation_p.A86T|SYK_ENST00000375746.1_Missense_Mutation_p.A86T|SYK_ENST00000375751.4_Missense_Mutation_p.A86T|SYK_ENST00000476708.1_3'UTR	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	86	SH2 1.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TGCCAGCCCCGCCGACCTCTG	0.667		NA	T	ETV6, ITK	MDS, peripheral T-cell lymphoma								g	1	5e-04	NA	0.0028	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9135	EXOME	NA	NA	2e-04	SNP			Dom	yes		9	9q22	6850	spleen tyrosine kinase		L	0													35	33	33			NA	NA	9		NA											NA				93606436		2203	4300	6503	SO:0001583	missense			L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025	6850	6850		SH2 domain containing	11491	protein-coding gene	gene with protein product		600085			NA	8082894, 1423621	Standard		XM_005252147	NA	Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.256G>A	9.37:g.93606436G>A	ENSP00000364907:p.Ala86Thr	NA		37	CCDS6688.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	g	19.34	3.808139	0.70797	.	.	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43	4.79	4.79	0.61399	SH2 motif (4);	0.115291	0.64402	D	0.000014	D	0.87501	0.6193	N	0.16903	0.455	0.49130	D	0.999752	D;D;D	0.67145	0.992;0.993;0.996	P;P;P	0.56398	0.553;0.681;0.797	D	0.87018	0.2127	10	0.32370	T	0.25	.	18.0426	0.89323	0.0:0.0:1.0:0.0	.	86;86;86	P43405-2;P43405;C3W981	.;KSYK_HUMAN;.	T	86	ENSP00000364907:A86T;ENSP00000364904:A86T;ENSP00000364899:A86T;ENSP00000364898:A86T	ENSP00000364898:A86T	A	+	1	0	SYK	92646257	0.996000	0.38824	0.626000	0.29213	0.503000	0.33858	5.814000	0.69208	2.495000	0.84180	0.556000	0.70494	GCC	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053018.1		+	ENST00000375754.4	Missense_Mutation	SNP	9 : 93606436 - 93606436 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	318	48
TANC1	85461	broad.mit.edu	37	2	160084456	160084456	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160084456C>T	ENST00000263635.6	+	25	4267	c.4030C>T	c.(4030-4032)Cga>Tga	p.R1344*	TANC1_ENST00000454300.1_Nonsense_Mutation_p.R1238*	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1344						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CAATTTGTCGCGATGCCGAAG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	96	96			NA	NA	2		NA											NA				160084456		1912	4130	6042	SO:0001587	stop_gained			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183	85461	85461		Ankyrin repeat domain containing, Tetratricopeptide (TTC) repeat domain containing	29364	protein-coding gene	gene with protein product	rolling pebbles homolog B (Drosophila)	611397			NA	15673434	Standard		NM_033394	NA	Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.4030C>T	2.37:g.160084456C>T	ENSP00000263635:p.Arg1344*	NA	C9JD88|Q49AI8	37	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	C	45	11.797480	0.99604	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	.	.	.	6.07	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6244	0.76840	0.3198:0.6802:0.0:0.0	.	.	.	.	X	1238;1344	.	.	R	+	1	2	TANC1	159792702	0.997000	0.39634	1.000000	0.80357	0.852000	0.48524	2.467000	0.45093	1.551000	0.49450	0.655000	0.94253	CGA	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333135.1		+	ENST00000263635.6	Nonsense_Mutation	SNP	2 : 160084456 - 160084456 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	524	129
CNGB1	1258	broad.mit.edu	37	16	57973480	57973480	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57973480A>C	ENST00000564448.1	-	16	1268	c.1208T>G	c.(1207-1209)gTt>gGt	p.V403G	CNGB1_ENST00000564654.1_5'UTR|CNGB1_ENST00000251102.8_Missense_Mutation_p.V409G			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	409					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						ctcctccccaacttcctccCA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(156;1293 1853 16336 28962 38659)							NA				0													92	97	95			NA	NA	16		NA											NA				57973480		1957	4151	6108	SO:0001583	missense			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729	1258	1258		Voltage-gated ion channels / Cyclic nucleotide-regulated channels	2151	protein-coding gene	gene with protein product	glutamic acid-rich protein	600724		CNCG2, CNCG3L	NA	8766832, 7590744, 16382102	Standard	NM_001297	NM_001297	NA	Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000564448.1:c.1208T>G	16.37:g.57973480A>C	ENSP00000454633:p.Val403Gly	NA	O43636|Q13059|Q14029|Q9UMG2	37		.	.	.	.	.	.	.	.	.	.	A	0.147	-1.095945	0.01843	.	.	ENSG00000070729	ENST00000251102	T	0.28255	1.62	0.637	-0.447	0.12234	.	.	.	.	.	T	0.13841	0.0335	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.21965	-1.0230	8	0.66056	D	0.02	.	.	.	.	.	409	Q14028	CNGB1_HUMAN	G	409	ENSP00000251102:V409G	ENSP00000251102:V409G	V	-	2	0	CNGB1	56530981	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.035000	0.13797	-0.191000	0.10448	-0.407000	0.06327	GTT	CNGB1-003	NOVEL	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000432160.1		-	ENST00000564448.1	Missense_Mutation	SNP	16 : 57973480 - 57973480 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	347	65
PLXNA4	91584	broad.mit.edu	37	7	131853310	131853310	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131853310G>A	ENST00000359827.3	-	22	5001	c.4039C>T	c.(4039-4041)Cgt>Tgt	p.R1347C	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1347C			Q9HCM2	PLXA4_HUMAN	plexin A4	1347						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TTCTCCACACGCTCCTGCCGG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/ARG	0,4404		0,0,2202	48	55	52		4039	5.5	1	7		52	1,8599	1.2+/-3.3	0,1,4299	no	missense	PLXNA4	NM_020911.1	180	0,1,6501	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	1347/1895	131853310	1,13003	2202	4300	6502	SO:0001583	missense			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866	91584	91584		Plexins	9102	protein-coding gene	gene with protein product		604280	plexin A4, A, plexin A4, B	PLXNA4A, PLXNA4B	NA		Standard	NM_181775	NM_181775	NA	Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4039C>T	7.37:g.131853310G>A	ENSP00000352882:p.Arg1347Cys	NA	Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392914	0.62066	0.0	1.16E-4	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.12147	2.71;2.71	5.49	5.49	0.81192	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.050603	0.85682	D	0.000000	T	0.15869	0.0382	L	0.40543	1.245	0.80722	D	1	B	0.18610	0.029	B	0.13407	0.009	T	0.02546	-1.1143	10	0.56958	D	0.05	.	19.3569	0.94418	0.0:0.0:1.0:0.0	.	1347	Q9HCM2	PLXA4_HUMAN	C	1347	ENSP00000323194:R1347C;ENSP00000352882:R1347C	ENSP00000323194:R1347C	R	-	1	0	PLXNA4	131503850	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.333000	0.65917	2.582000	0.87167	0.462000	0.41574	CGT	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000338422.2		-	ENST00000359827.3	Missense_Mutation	SNP	7 : 131853310 - 131853310 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	283	20
HTATSF1	27336	broad.mit.edu	37	X	135581769	135581769	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135581769T>G	ENST00000218364.4	+	2	373	c.199T>G	c.(199-201)Ttc>Gtc	p.F67V	HTATSF1_ENST00000535601.1_Missense_Mutation_p.F67V	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	67					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TACTGAAGATTTCATTGCTAC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	118	119			NA	NA	X		NA											NA				135581769		2203	4300	6503	SO:0001583	missense			U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241	27336	27336		RNA binding motif (RRM) containing	5276	protein-coding gene	gene with protein product		300346	HIV TAT specific factor 1		NA	8849451	Standard	NM_014500	NM_014500	NA	Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.199T>G	X.37:g.135581769T>G	ENSP00000218364:p.Phe67Val	NA	D3DWG9|Q59G06|Q99730	37	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.575253	0.86645	.	.	ENSG00000102241	ENST00000535601;ENST00000448450;ENST00000425695;ENST00000218364;ENST00000415377	T;T	0.26223	1.75;1.75	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.54382	0.1855	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.61307	-0.7089	10	0.72032	D	0.01	-10.3323	14.8256	0.70110	0.0:0.0:0.0:1.0	.	67	O43719	HTSF1_HUMAN	V	67	ENSP00000442699:F67V;ENSP00000218364:F67V	ENSP00000218364:F67V	F	+	1	0	HTATSF1	135409435	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.337000	0.65941	1.882000	0.54519	0.481000	0.45027	TTC	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058497.1		+	ENST00000218364.4	Missense_Mutation	SNP	X : 135581769 - 135581769 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	561	131
COL11A2	1302	broad.mit.edu	37	6	33145207	33145207	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33145207C>A	ENST00000374708.4	-	21	1953	c.1695G>T	c.(1693-1695)caG>caT	p.Q565H	COL11A2_ENST00000374713.1_Missense_Mutation_p.Q604H|COL11A2_ENST00000361917.1_Missense_Mutation_p.Q544H|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000341947.2_Missense_Mutation_p.Q651H|COL11A2_ENST00000374712.1_Missense_Mutation_p.Q570H|COL11A2_ENST00000395197.1_Missense_Mutation_p.Q591H|COL11A2_ENST00000374714.1_Missense_Mutation_p.Q625H|COL11A2_ENST00000357486.1_Missense_Mutation_p.Q630H	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	651	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CAGGGGTGCCCTGTTGTCCAG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(1;90 116 3946 5341 17093)							NA				0													39	40	40			NA	NA	6		NA											NA				33145207		1508	2708	4216	SO:0001583	missense			U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248	1302	1302		Collagens	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53	NA	7559422, 10581026	Standard		NM_080679	NA	Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.1695G>T	6.37:g.33145207C>A	ENSP00000363840:p.Gln565His	NA	Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q99866|Q9UIP9	37	CCDS43452.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.20|18.20	3.571584|3.571584	0.65765|0.65765	.|.	.|.	ENSG00000204248|ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917|ENST00000395196	D;D;D;D;D;D;D;D|.	0.95885|.	-3.41;-3.84;-3.84;-3.84;-3.84;-3.41;-3.84;-3.41|.	4.07|4.07	4.07|4.07	0.47477|0.47477	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.60143|0.60143	0.2246|0.2246	L|L	0.45470|0.45470	1.425|1.425	0.58432|0.58432	D|D	0.999995|0.999995	D;D;D|D	0.89917|0.76494	1.0;0.996;0.997|0.999	D;D;D|D	0.91635|0.65573	0.999;0.996;0.981|0.936	T|T	0.65265|0.65265	-0.6210|-0.6210	10|8	0.72032|0.72032	D|D	0.01|0.01	.|.	13.8013|13.8013	0.63202|0.63202	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	544;565;651|57	P13942-8;P13942-6;P13942|A2ABA7	.;.;COBA2_HUMAN|.	H|M	565;651;630;625;604;591;570;544|31	ENSP00000363840:Q565H;ENSP00000339915:Q651H;ENSP00000350079:Q630H;ENSP00000363846:Q625H;ENSP00000363845:Q604H;ENSP00000378623:Q591H;ENSP00000363844:Q570H;ENSP00000355123:Q544H|.	ENSP00000339915:Q651H|ENSP00000378622:R31M	Q|R	-|-	3|2	2|0	COL11A2|COL11A2	33253185|33253185	0.651000|0.651000	0.27340|0.27340	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	-0.110000|-0.110000	0.10824|0.10824	2.113000|2.113000	0.64589|0.64589	0.579000|0.579000	0.79373|0.79373	CAG|AGG	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076032.2		-	ENST00000374708.4	Missense_Mutation	SNP	6 : 33145207 - 33145207 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	54
PIGQ	9091	broad.mit.edu	37	16	633231	633231	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:633231G>T	ENST00000026218.5	+	10	1968	c.1880G>T	c.(1879-1881)aGg>aTg	p.R627M	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	627					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				TGGCCAGCCAGGCTGGCCGCA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	112	109			NA	NA	16		NA											NA				633231		2201	4300	6501	SO:0001583	missense			AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541	9091	9091		Phosphatidylinositol glycan anchor biosynthesis	14135	protein-coding gene	gene with protein product		605754	phosphatidylinositol glycan, class Q		NA	9463366, 9729469	Standard	NM_004204	NM_004204	NA	Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.1880G>T	16.37:g.633231G>T	ENSP00000026218:p.Arg627Met	NA	A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	37	CCDS10411.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.443129	0.25987	.	.	ENSG00000007541	ENST00000026218	T	0.23950	1.88	3.49	-1.56	0.08532	.	0.716622	0.12313	N	0.479982	T	0.13114	0.0318	N	0.08118	0	0.09310	N	1	D;B	0.55605	0.972;0.41	P;B	0.49047	0.599;0.146	T	0.15178	-1.0446	9	.	.	.	.	3.4154	0.07373	0.4076:0.2047:0.3877:0.0	.	197;627	B3KRR7;Q9BRB3	.;PIGQ_HUMAN	M	627	ENSP00000026218:R627M	.	R	+	2	0	PIGQ	573232	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.537000	0.02206	-0.037000	0.13646	-0.513000	0.04457	AGG	PIGQ-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239270.2		+	ENST00000026218.5	Missense_Mutation	SNP	16 : 633231 - 633231 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1170	42
UGT3A2	167127	broad.mit.edu	37	5	36049058	36049058	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36049058C>T	ENST00000513300.1	-	3	766	c.674G>A	c.(673-675)cGa>cAa	p.R225Q	UGT3A2_ENST00000282507.3_Missense_Mutation_p.R259Q|UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000504954.1_Intron	NM_001168316.1	NP_001161788.1	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	259						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGCAGAGGTCGAGCAAAATC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	132	134			NA	NA	5		NA											NA				36049058		2203	4300	6503	SO:0001583	missense				CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671	167127	167127		UDP glucuronosyltransferases	27266	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_174914	NM_174914	NA	Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000513300.1:c.674G>A	5.37:g.36049058C>T	ENSP00000427404:p.Arg225Gln	NA	Q6UXC4|Q8NBP2	37	CCDS54842.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611891	0.46631	.	.	ENSG00000168671	ENST00000282507;ENST00000513300	T;T	0.61510	0.1;0.1	3.45	2.58	0.30949	.	0.305261	0.27495	N	0.019106	T	0.50463	0.1617	M	0.75150	2.29	0.80722	D	1	B;P	0.38711	0.327;0.643	B;B	0.33196	0.148;0.159	T	0.53627	-0.8412	10	0.54805	T	0.06	.	7.1791	0.25761	0.0:0.7815:0.0:0.2185	.	225;259	E9PFK7;Q3SY77	.;UD3A2_HUMAN	Q	259;225	ENSP00000282507:R259Q;ENSP00000427404:R225Q	ENSP00000282507:R259Q	R	-	2	0	UGT3A2	36084815	0.005000	0.15991	0.830000	0.32933	0.940000	0.58332	1.044000	0.30329	1.034000	0.39945	0.655000	0.94253	CGA	UGT3A2-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367177.1		-	ENST00000513300.1	Missense_Mutation	SNP	5 : 36049058 - 36049058 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	513	95
TAS2R14	50840	broad.mit.edu	37	12	11091357	11091357	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:11091357G>A	ENST00000537503.1	-	1	505	c.450C>T	c.(448-450)atC>atT	p.I150I	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	150					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						CATTTATATGGATGTTTATCA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	70	69			NA	NA	12		NA											NA				11091357		2203	4300	6503	SO:0001819	synonymous_variant			AF227138	CCDS8637.1	12p13	2012-08-22			ENSG00000212127	ENSG00000212127	50840	50840		Taste receptors / Type 2, GPCR / Unclassified : Taste receptors	14920	protein-coding gene	gene with protein product		604790			NA	10761934, 10766242	Standard	NM_023922	NM_023922	NA	Approved	T2R14, TRB1	uc010shi.2	Q9NYV8	OTTHUMG00000162720	ENST00000537503.1:c.450C>T	12.37:g.11091357G>A		NA	Q645X3	37	CCDS8637.1																																																																																			TAS2R14-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370194.4		-	ENST00000537503.1	Silent	SNP	12 : 11091357 - 11091357 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	383	72
ADAMTS3	9508	broad.mit.edu	37	4	73175167	73175167	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73175167T>C	ENST00000286657.4	-	15	2162	c.2126A>G	c.(2125-2127)aAt>aGt	p.N709S		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	709	Cys-rich.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCAGTGGGAATTATCTCCTCC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(168;1941 2048 2918 13048 43078)							NA				0													148	135	140			NA	NA	4		NA											NA				73175167		2203	4300	6503	SO:0001583	missense			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	9508	9508	3.4.24.-	ADAM metallopeptidases with thrombospondin type 1 motif	219	protein-coding gene	gene with protein product		605011	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3		NA	10094461	Standard		NM_014243	NA	Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2126A>G	4.37:g.73175167T>C	ENSP00000286657:p.Asn709Ser	NA	A1L3U9|Q9BXZ8	37	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	T	16.98	3.271527	0.59649	.	.	ENSG00000156140	ENST00000286657	T	0.66460	-0.21	5.53	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.64811	0.2632	M	0.71920	2.185	0.49483	D	0.999796	P	0.48911	0.917	B	0.41412	0.356	T	0.67333	-0.5697	10	0.52906	T	0.07	.	11.4011	0.49871	0.0:0.0709:0.0:0.9291	.	709	O15072	ATS3_HUMAN	S	709	ENSP00000286657:N709S	ENSP00000286657:N709S	N	-	2	0	ADAMTS3	73394031	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.938000	0.70170	1.040000	0.40099	0.455000	0.32223	AAT	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252164.2		-	ENST00000286657.4	Missense_Mutation	SNP	4 : 73175167 - 73175167 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	84
EHD1	10938	broad.mit.edu	37	11	64641903	64641903	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64641903C>T	ENST00000320631.3	-	2	746	c.492G>A	c.(490-492)cgG>cgA	p.R164R	EHD1_ENST00000359393.2_Silent_p.R164R	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	164					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CTCTGCTGATCCGCTGCTTCT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	47	53			NA	NA	11		NA											NA				64641903		2200	4294	6494	SO:0001819	synonymous_variant			AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047	10938	10938		EF-hand domain containing	3242	protein-coding gene	gene with protein product	testilin	605888		PAST1	NA	10395801, 10673336	Standard	NM_006795	NM_001282444	NA	Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.492G>A	11.37:g.64641903C>T		NA	O14611|Q2M3Q4|Q9UNR3	37	CCDS8084.1																																																																																			EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000143229.2		-	ENST00000320631.3	Silent	SNP	11 : 64641903 - 64641903 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	57	12
GPR139	124274	broad.mit.edu	37	16	20043299	20043299	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20043299C>A	ENST00000570682.1	-	2	1120	c.820G>T	c.(820-822)Gcc>Tcc	p.A274S		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	274						integral to membrane|plasma membrane		p.A274S(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TTCAGAAGGGCTAGCATGTTG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											88	89	89			NA	NA	16		NA											NA				20043299		2203	4300	6503	SO:0001583	missense			AY255545	CCDS32398.1	16p13.11	2012-08-21					124274	124274		GPCR / Class A : Orphans	19995	protein-coding gene	gene with protein product					NA	12679517	Standard	NM_001002911	XM_005255114	NA	Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.820G>T	16.37:g.20043299C>A	ENSP00000458791:p.Ala274Ser	NA	Q86SP2|Q8TDU8	37	CCDS32398.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209851	0.79240	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.84	5.84	0.93424	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72455	0.3462	L	0.49126	1.545	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.63972	-0.6516	9	0.06365	T	0.9	-38.6886	19.1302	0.93402	0.0:1.0:0.0:0.0	.	274	Q6DWJ6	GP139_HUMAN	S	274	.	ENSP00000370779:A274S	A	-	1	0	GPR139	19950800	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.484000	0.81180	2.754000	0.94517	0.655000	0.94253	GCC	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438522.1		-	ENST00000570682.1	Missense_Mutation	SNP	16 : 20043299 - 20043299 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	561	129
MYCBP2	23077	broad.mit.edu	37	13	77742684	77742684	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77742684G>A	ENST00000544440.2	-	40	5896	c.5879C>T	c.(5878-5880)tCg>tTg	p.S1960L	MYCBP2_ENST00000357337.6_Missense_Mutation_p.S1960L|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.S1998L			O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1960					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCTATCTGTCGACTGATTAGG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													229	198	208			NA	NA	13		NA											NA				77742684		2203	4300	6503	SO:0001583	missense			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810	23077	23077			23386	protein-coding gene	gene with protein product		610392	MYC binding protein 2		NA	9689053, 15057823	Standard	NM_015057	NM_015057	NA	Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.5879C>T	13.37:g.77742684G>A	ENSP00000444596:p.Ser1960Leu	NA	A6NJC6|Q5JSX8|Q5VZN6|Q6PIB6|Q9UQ11|Q9Y6E4	37		.	.	.	.	.	.	.	.	.	.	G	23.9	4.475990	0.84640	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.31769	1.48;1.48;1.48	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.41213	0.1149	L	0.29908	0.895	0.80722	D	1	D	0.64830	0.994	D	0.64042	0.921	T	0.04467	-1.0949	10	0.10111	T	0.7	.	20.0567	0.97653	0.0:0.0:1.0:0.0	.	1960	O75592	MYCB2_HUMAN	L	1960;1998;1960	ENSP00000349892:S1960L;ENSP00000384288:S1998L;ENSP00000444596:S1960L	ENSP00000349892:S1960L	S	-	2	0	MYCBP2	76640685	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.752000	0.94435	0.650000	0.86243	TCG	MYCBP2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000045326.1		-	ENST00000544440.2	Missense_Mutation	SNP	13 : 77742684 - 77742684 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	494	73
PCNT	5116	broad.mit.edu	37	21	47754626	47754626	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47754626C>T	ENST00000359568.5	+	3	690	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	195					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACCAGAACAGCGTGGGATCTT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													185	139	155			NA	NA	21		NA											NA				47754626		2203	4300	6503	SO:0001583	missense			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299	5116	5116			16068	protein-coding gene	gene with protein product	kendrin, Seckel syndrome 4	605925	pericentrin 2 (kendrin)	PCNT2	NA	8812505, 9455477	Standard	NM_006031	NM_006031	NA	Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.583C>T	21.37:g.47754626C>T	ENSP00000352572:p.Arg195Cys	NA	O43152|Q7Z7C9	37	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	1.981	-0.434157	0.04669	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.01685	4.69	0.235	-0.47	0.12131	.	.	.	.	.	T	0.01353	0.0044	N	0.20986	0.625	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47086	-0.9144	8	0.54805	T	0.06	.	.	.	.	.	77;195	O95613-2;O95613	.;PCNT_HUMAN	C	195;182	ENSP00000352572:R195C	ENSP00000338675:R182C	R	+	1	0	PCNT	46579054	0.219000	0.23619	0.002000	0.10522	0.002000	0.02628	0.882000	0.28186	-0.671000	0.05274	-0.657000	0.03884	CGT	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207336.1		+	ENST00000359568.5	Missense_Mutation	SNP	21 : 47754626 - 47754626 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	353	40
MAGEC1	9947	broad.mit.edu	37	X	140996169	140996169	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140996169C>T	ENST00000285879.4	+	4	3265	c.2979C>T	c.(2977-2979)ggC>ggT	p.G993G	MAGEC1_ENST00000406005.2_Silent_p.G60G	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	993	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ATGAGCAGGGCATGTCCCAGA	0.483		NA								HNSCC(15;0.026)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	96	99			NA	NA	X		NA											NA				140996169		2203	4300	6503	SO:0001819	synonymous_variant			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495	9947	9947			6812	protein-coding gene	gene with protein product	cancer/testis antigen family 7, member 1	300223			NA	9485030, 9618514	Standard	NM_005462	NM_005462	NA	Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2979C>T	X.37:g.140996169C>T		NA	O75451|Q8TCV4	37	CCDS35417.1																																																																																			MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058604.1		+	ENST00000285879.4	Silent	SNP	X : 140996169 - 140996169 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	563	144
WDFY3	23001	broad.mit.edu	37	4	85750255	85750255	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85750255A>C	ENST00000295888.4	-	9	1265	c.858T>G	c.(856-858)ctT>ctG	p.L286L	WDFY3_ENST00000322366.6_Silent_p.L286L	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	286						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGAAACAAGAAAGCCCAGCAA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	100	99			NA	NA	4		NA											NA				85750255		2203	4300	6503	SO:0001819	synonymous_variant			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625	23001	23001		Zinc fingers, FYVE domain containing, WD repeat domain containing	20751	protein-coding gene	gene with protein product					NA	10231032	Standard	NM_014991	NM_014991	NA	Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.858T>G	4.37:g.85750255A>C		NA	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	37	CCDS3609.1																																																																																			WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252811.2		-	ENST00000295888.4	Silent	SNP	4 : 85750255 - 85750255 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	515	90
KIAA0226	9711	broad.mit.edu	37	3	197408180	197408180	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197408180G>A	ENST00000273582.5	-	17	2660	c.2115C>T	c.(2113-2115)tgC>tgT	p.C705C	KIAA0226_ENST00000389665.5_Silent_p.C775C|KIAA0226_ENST00000296343.5_Silent_p.C750C	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	750					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	p.C750*(1)|p.C705*(1)		NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CATTCTCGTGGCAGCACTGGC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(3;167 355 3763 15924)							NA				2	Substitution - Nonsense(2)	lung(2)											88	87	87			NA	NA	3		NA											NA				197408180		2004	4190	6194	SO:0001819	synonymous_variant			D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016	9711	9711			28991	protein-coding gene	gene with protein product	RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein	613516			NA	9039502, 19270693, 20826435	Standard	XM_032901	XM_005269374	NA	Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000273582.5:c.2115C>T	3.37:g.197408180G>A		NA	Q96CK5	37	CCDS46987.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.39|10.39	1.337956|1.337956	0.24253|0.24253	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000415452|ENST00000413360	.|.	.|.	.|.	5.48|5.48	4.54|4.54	0.55810|0.55810	.|.	.|.	.|.	.|.	.|.	T|T	0.69531|0.69531	0.3121|0.3121	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.67325|0.67325	-0.5699|-0.5699	4|4	.|.	.|.	.|.	.|.	14.4957|14.4957	0.67685|0.67685	0.0:0.0:0.8529:0.1471|0.0:0.0:0.8529:0.1471	.|.	.|.	.|.	.|.	V|S	534|712	.|.	.|.	A|P	-|-	2|1	0|0	KIAA0226|KIAA0226	198892577|198892577	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.022000|4.022000	0.57203|0.57203	2.742000|2.742000	0.94016|0.94016	0.650000|0.650000	0.86243|0.86243	GCC|CCA	KIAA0226-001	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340174.3		-	ENST00000273582.5	Silent	SNP	3 : 197408180 - 197408180 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	560	119
RPL10	6134	broad.mit.edu	37	X	153627922	153627922	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153627922G>A	ENST00000369817.2	+	5	753	c.177G>A	c.(175-177)caG>caA	p.Q59Q	RPL10_ENST00000406022.2_Silent_p.Q8Q|RPL10_ENST00000424325.2_Silent_p.Q59Q			P27635	RL10_HUMAN	ribosomal protein L10	59					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AATATGAGCAGCTGTCCTCTG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	106	107			NA	NA	X		NA											NA				153627922		2203	4300	6503	SO:0001819	synonymous_variant			AB007170	CCDS14746.1, CCDS76059.1	Xq28	2011-04-06			ENSG00000147403	ENSG00000147403	6134	6134		L ribosomal proteins	10298	protein-coding gene	gene with protein product		312173			NA	9582194	Standard	NM_006013	NM_006013	NA	Approved	NOV, QM, DXS648E, DXS648, FLJ23544, L10	uc004fkm.2	P27635	OTTHUMG00000033189	ENST00000369817.2:c.177G>A	X.37:g.153627922G>A		NA	A3KQT0|D3DWW6|Q16470|Q2HXT7|Q53FH7|Q6FGN8|Q8TDA5	37	CCDS14746.1																																																																																			RPL10-008	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000127774.5		+	ENST00000369817.2	Silent	SNP	X : 153627922 - 153627922 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	125
GDAP2	54834	broad.mit.edu	37	1	118455300	118455300	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118455300G>A	ENST00000369443.5	-	4	571	c.322C>T	c.(322-324)Cga>Tga	p.R108*	GDAP2_ENST00000369442.3_Nonsense_Mutation_p.R108*	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	NA	Macro.									kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		TCACCTGTTCGGCACCCTGAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	100	103			NA	NA	1		NA											NA				118455300		2203	4300	6503	SO:0001587	stop_gained			AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505	54834	54834			18010	protein-coding gene	gene with protein product					NA	1021725	Standard	NM_017686	NM_017686	NA	Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.322C>T	1.37:g.118455300G>A	ENSP00000358451:p.Arg108*	NA	Q96DZ0	37	CCDS897.1	.	.	.	.	.	.	.	.	.	.	G	36	5.844187	0.97016	.	.	ENSG00000196505	ENST00000369443;ENST00000369442	.	.	.	5.9	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2636	14.3031	0.66368	0.0:0.0:0.6772:0.3228	.	.	.	.	X	108	.	ENSP00000358450:R108X	R	-	1	2	GDAP2	118256823	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.369000	0.66138	1.470000	0.48102	0.585000	0.79938	CGA	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033732.2		-	ENST00000369443.5	Nonsense_Mutation	SNP	1 : 118455300 - 118455300 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	463	82
MARCO	8685	broad.mit.edu	37	2	119727762	119727762	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:119727762G>T	ENST00000327097.4	+	3	407	c.272G>T	c.(271-273)aGc>aTc	p.S91I	MARCO_ENST00000541757.1_Missense_Mutation_p.S13I	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	91					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GCTGAGGACAGCCCGTCCTTC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(8;18 374 7467 11269 32796)							NA				0													80	79	79			NA	NA	2		NA											NA				119727762		2203	4300	6503	SO:0001583	missense			AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169	8685	8685			6895	protein-coding gene	gene with protein product	scavenger receptor class A, member 2	604870			NA	9468508, 7867067, 10331948	Standard	NM_006770	NM_006770	NA	Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.272G>T	2.37:g.119727762G>T	ENSP00000318916:p.Ser91Ile	NA	Q9Y5S3	37	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.691316	0.30052	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757;ENST00000412481	D;D	0.90324	-2.65;-2.61	4.22	-4.57	0.03421	.	1.340110	0.04576	N	0.394204	T	0.80555	0.4645	N	0.24115	0.695	0.09310	N	1	P	0.35982	0.531	B	0.33690	0.168	T	0.70699	-0.4800	9	.	.	.	.	5.8173	0.18500	0.5132:0.2672:0.2196:0.0	.	91	Q9UEW3	MARCO_HUMAN	I	91;91;13;13	ENSP00000318916:S91I;ENSP00000441769:S13I	.	S	+	2	0	MARCO	119444232	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.076000	0.03420	-1.039000	0.03275	-0.258000	0.10820	AGC	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254190.2		+	ENST00000327097.4	Missense_Mutation	SNP	2 : 119727762 - 119727762 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	428	48
PTCHD2	57540	broad.mit.edu	37	1	11561444	11561444	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11561444C>T	ENST00000294484.6	+	2	533	c.395C>T	c.(394-396)tCc>tTc	p.S132F	PTCHD2_ENST00000389575.3_Missense_Mutation_p.S132F	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	132					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CAGTTTGGATCCTGGGGGCGG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	42	42			NA	NA	1		NA											NA				11561444		2051	4176	6227	SO:0001583	missense			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624	57540	57540			29251	protein-coding gene	gene with protein product		611251			NA	15738394	Standard	XM_052561	NM_020780	NA	Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.395C>T	1.37:g.11561444C>T	ENSP00000294484:p.Ser132Phe	NA	Q5VTU9|Q9UJD6	37	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.979915	0.92982	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.25579	1.79;1.79	5.67	5.67	0.87782	.	0.116909	0.64402	D	0.000012	T	0.36853	0.0982	L	0.29908	0.895	0.53005	D	0.999964	D	0.62365	0.991	P	0.57502	0.822	T	0.09840	-1.0656	10	0.87932	D	0	-35.2713	18.751	0.91814	0.0:1.0:0.0:0.0	.	132	Q9P2K9	PTHD2_HUMAN	F	132	ENSP00000294484:S132F;ENSP00000374226:S132F	ENSP00000294484:S132F	S	+	2	0	PTCHD2	11484031	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.623000	0.67757	2.666000	0.90696	0.561000	0.74099	TCC	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005770.2		+	ENST00000294484.6	Missense_Mutation	SNP	1 : 11561444 - 11561444 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	227	56
NOC4L	79050	broad.mit.edu	37	12	132636673	132636673	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132636673C>T	ENST00000330579.1	+	14	1403	c.1362C>T	c.(1360-1362)agC>agT	p.S454S	NOC4L_ENST00000538784.1_Silent_p.S69S	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	454					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		AAGCCGCCAGCGTCATCAACC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	33	36			NA	NA	12		NA											NA				132636673		2196	4288	6484	SO:0001819	synonymous_variant				CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967	79050	79050			28461	protein-coding gene	gene with protein product		612819			NA	12446671	Standard	NM_024078	NM_024078	NA	Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.1362C>T	12.37:g.132636673C>T		NA	Q8N2S5|Q96I14	37	CCDS9277.1																																																																																			NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398999.1		+	ENST00000330579.1	Silent	SNP	12 : 132636673 - 132636673 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	219	36
EIF4A2	1974	broad.mit.edu	37	3	186505616	186505616	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186505616G>A	ENST00000323963.5	+	10	1088	c.1024G>A	c.(1024-1026)Gtg>Atg	p.V342M	EIF4A2_ENST00000356531.5_Missense_Mutation_p.V247M|EIF4A2_ENST00000440191.2_Missense_Mutation_p.V343M			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	342	Helicase C-terminal.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		TGTGCAACAAGTGTCTTTGGT	0.368		NA	T	BCL6	NHL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		3	3q27.3	1974	eukaryotic translation initiation factor 4A, isoform 2		L	0													94	95	95			NA	NA	3		NA											NA				186505616		2203	4299	6502	SO:0001583	missense			D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	1974	1974	3.6.1.1	DEAD-boxes	3284	protein-coding gene	gene with protein product		601102	eukaryotic translation initiation factor 4A, isoform 2	EIF4F	NA	8521730	Standard	NM_001967	NM_001967	NA	Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.1024G>A	3.37:g.186505616G>A	ENSP00000326381:p.Val342Met	NA	D3DNU9|Q53XJ6|Q96B90|Q96EA8	37	CCDS3282.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759885	0.89932	.	.	ENSG00000156976	ENST00000323963;ENST00000440191;ENST00000356531	T;T;T	0.09350	2.99;2.99;2.99	5.43	5.43	0.79202	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.53206	0.1782	H	0.99249	4.485	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.70935	0.965;0.952;0.971	T	0.74140	-0.3761	10	0.87932	D	0	.	17.0851	0.86609	0.0:0.0:1.0:0.0	.	247;343;342	Q9NZE6;Q14240-2;Q14240	.;.;IF4A2_HUMAN	M	342;343;247	ENSP00000326381:V342M;ENSP00000398370:V343M;ENSP00000348925:V247M	ENSP00000326381:V342M	V	+	1	0	EIF4A2	187988310	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.344000	0.97050	2.709000	0.92574	0.563000	0.77884	GTG	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344609.1		+	ENST00000323963.5	Missense_Mutation	SNP	3 : 186505616 - 186505616 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	422	86
WWC2	80014	broad.mit.edu	37	4	184186218	184186218	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184186218C>T	ENST00000403733.3	+	12	2196	c.1997C>T	c.(1996-1998)tCt>tTt	p.S666F	WWC2_ENST00000504005.1_Missense_Mutation_p.S348F|WWC2_ENST00000448232.2_Missense_Mutation_p.S666F|WWC2_ENST00000513834.1_Missense_Mutation_p.S617F|WWC2_ENST00000378925.3_Missense_Mutation_p.S568F	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	666										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		TCTGATGAGTCTGTGGCTGGA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	94	96			NA	NA	4		NA											NA				184186218		2203	4300	6503	SO:0001583	missense			BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718	80014	80014		WW, C2 and coiled-coil domain containing	24148	protein-coding gene	gene with protein product			WW, C2 and coiled-coil domain containing 2		NA	12477932	Standard	NM_024949	NM_024949	NA	Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.1997C>T	4.37:g.184186218C>T	ENSP00000384222:p.Ser666Phe	NA	Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	37	CCDS34109.2	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665799	0.88251	.	.	ENSG00000151718	ENST00000403733;ENST00000378925;ENST00000513834;ENST00000448232;ENST00000504005	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000002	T	0.66137	0.2759	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	T	0.72121	-0.4386	10	0.87932	D	0	-15.9818	18.5932	0.91222	0.0:1.0:0.0:0.0	.	666;617	Q6AWC2;Q6AWC2-4	WWC2_HUMAN;.	F	666;568;617;666;348	ENSP00000384222:S666F;ENSP00000368205:S568F;ENSP00000425054:S617F;ENSP00000398577:S666F;ENSP00000427569:S348F	ENSP00000368205:S568F	S	+	2	0	WWC2	184423212	1.000000	0.71417	0.984000	0.44739	0.934000	0.57294	7.011000	0.76359	2.610000	0.88304	0.563000	0.77884	TCT	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319608.1		+	ENST00000403733.3	Missense_Mutation	SNP	4 : 184186218 - 184186218 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	16
PWP1	11137	broad.mit.edu	37	12	108082406	108082406	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108082406G>A	ENST00000412830.3	+	3	314	c.146G>A	c.(145-147)gGc>gAc	p.G49D	PWP1_ENST00000541166.1_5'UTR	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	49					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						GAAGGTGGTGGCAGTGATGAA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	117	117			NA	NA	12		NA											NA				108082406		2203	4300	6503	SO:0001583	missense			BC000067	CCDS9114.1	12q23.3	2013-06-10				ENSG00000136045	11137	11137		WD repeat domain containing	17015	protein-coding gene	gene with protein product	endonuclein				NA	7828893, 11850830	Standard	NM_007062	NM_007062	NA	Approved	IEF-SSP-9502	uc001tmo.1	Q13610	OTTHUMG00000169913	ENST00000412830.3:c.146G>A	12.37:g.108082406G>A	ENSP00000387365:p.Gly49Asp	NA	A8K3R6	37	CCDS9114.1	.	.	.	.	.	.	.	.	.	.	.	7.797	0.712842	0.15306	.	.	ENSG00000136045	ENST00000412830;ENST00000258531;ENST00000546068;ENST00000538327	T	0.68903	-0.36	5.69	1.58	0.23477	.	0.406630	0.30869	N	0.008716	T	0.29223	0.0727	N	0.03948	-0.315	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27806	-1.0063	10	0.02654	T	1	.	1.6877	0.02845	0.266:0.1436:0.4437:0.1466	.	49	Q13610	PWP1_HUMAN	D	49	ENSP00000387365:G49D	ENSP00000258531:G49D	G	+	2	0	PWP1	106606536	0.979000	0.34478	1.000000	0.80357	0.699000	0.40488	1.779000	0.38624	0.730000	0.32425	0.478000	0.44815	GGC	PWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406539.1		+	ENST00000412830.3	Missense_Mutation	SNP	12 : 108082406 - 108082406 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	465	81
ABTB1	80325	broad.mit.edu	37	3	127394818	127394818	+	Missense_Mutation	SNP	C	C	T	rs147002334		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127394818C>T	ENST00000232744.8	+	4	267	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	ABTB1_ENST00000393363.3_5'UTR|ABTB1_ENST00000453791.2_5'UTR|ABTB1_ENST00000468137.1_5'UTR			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	61						cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CCCAGGAGCCCGCTGCGAGGC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	16	15			NA	NA	3		NA											NA				127394818		2198	4292	6490	SO:0001583	missense			AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626	80325	80325		BTB/POZ domain containing, Ankyrin repeat domain containing	18275	protein-coding gene	gene with protein product		608308			NA	10891360, 11494141	Standard	NM_172027	NM_172027	NA	Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.181C>T	3.37:g.127394818C>T	ENSP00000232744:p.Arg61Cys	NA	D3DNB0|Q6ZNU9|Q71MF1|Q96S62|Q96S63	37	CCDS3045.1	.	.	.	.	.	.	.	.	.	.	c	12.44	1.939283	0.34189	.	.	ENSG00000114626	ENST00000361019;ENST00000232744	D	0.86366	-2.11	4.71	3.74	0.42951	Ankyrin repeat-containing domain (4);	0.055368	0.64402	D	0.000003	D	0.87916	0.6298	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.65773	0.938;0.93	D	0.87236	0.2263	10	0.51188	T	0.08	-5.7025	9.9066	0.41379	0.4822:0.5178:0.0:0.0	.	61;36	Q969K4;Q969K4-3	ABTB1_HUMAN;.	C	34;61	ENSP00000232744:R61C	ENSP00000232744:R61C	R	+	1	0	ABTB1	128877508	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	6.608000	0.74168	2.156000	0.67533	0.457000	0.33378	CGC	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356595.1		+	ENST00000232744.8	Missense_Mutation	SNP	3 : 127394818 - 127394818 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	146	21
NR4A2	4929	broad.mit.edu	37	2	157182425	157182425	+	Missense_Mutation	SNP	T	T	C	rs146388108		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:157182425T>C	ENST00000339562.4	-	8	1990	c.1628A>G	c.(1627-1629)aAt>aGt	p.N543S	NR4A2_ENST00000426264.1_Missense_Mutation_p.N480S|NR4A2_ENST00000539077.1_Missense_Mutation_p.N554S|NR4A2_ENST00000429376.1_Silent_p.Q445Q|NR4A2_ENST00000409108.2_Silent_p.Q508Q|NR4A2_ENST00000409572.1_Missense_Mutation_p.N543S	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	543					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CAACCCCCCATTGTTGAAAGT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	114	114			NA	NA	2		NA											NA				157182425		2203	4300	6503	SO:0001583	missense			X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234	NA	4929		Nuclear hormone receptors	7981	protein-coding gene	gene with protein product		601828		NURR1	NA	7706727	Standard		NM_006186	NA	Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.1628A>G	2.37:g.157182425T>C	ENSP00000344479:p.Asn543Ser	NA	Q16311|Q53RZ2	37	CCDS2201.1	.	.	.	.	.	.	.	.	.	.	T	0.699	-0.791458	0.02884	.	.	ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	6.06	6.06	0.98353	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.144766	0.64402	D	0.000006	T	0.19406	0.0466	N	0.00583	-1.355	0.45108	D	0.998122	B	0.02656	0.0	B	0.01281	0.0	T	0.22417	-1.0217	10	0.21014	T	0.42	.	16.6093	0.84858	0.0:0.0:0.0:1.0	.	543	P43354	NR4A2_HUMAN	S	543;480;543;554	ENSP00000344479:N543S;ENSP00000389986:N480S;ENSP00000386747:N543S;ENSP00000444925:N554S	ENSP00000344479:N543S	N	-	2	0	NR4A2	156890671	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.789000	0.69029	2.324000	0.78689	0.533000	0.62120	AAT	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254909.2		-	ENST00000339562.4	Missense_Mutation	SNP	2 : 157182425 - 157182425 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	419	112
FLG	2312	broad.mit.edu	37	1	152279011	152279011	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152279011T>C	ENST00000368799.1	-	3	8386	c.8351A>G	c.(8350-8352)gAc>gGc	p.D2784G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2784	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACGAATGGTGTCCTGACCGTC	0.602		NA							Ichthyosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													416	546	502			NA	NA	1		NA											NA				152279011		2198	4300	6498	SO:0001583	missense	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631	2312	2312		EF-hand domain containing	3748	protein-coding gene	gene with protein product		135940			NA	2740331, 2248957, 16444271	Standard	NM_002016	NM_002016	NA	Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8351A>G	1.37:g.152279011T>C	ENSP00000357789:p.Asp2784Gly	NA	Q01720|Q5T583|Q9UC71	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	T	9.496	1.101951	0.20632	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.01629	4.72	2.68	-5.36	0.02689	.	.	.	.	.	T	0.00695	0.0023	M	0.77820	2.39	0.09310	N	1	B	0.16603	0.018	B	0.09377	0.004	T	0.42378	-0.9455	9	0.44086	T	0.13	8.0E-4	1.9501	0.03364	0.1086:0.2667:0.189:0.4357	.	2784	P20930	FILA_HUMAN	G	2784;46	ENSP00000357789:D2784G	ENSP00000357786:D46G	D	-	2	0	FLG	150545635	0.243000	0.23878	0.000000	0.03702	0.067000	0.16453	-0.243000	0.08915	-1.533000	0.01745	0.254000	0.18369	GAC	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033742.1		-	ENST00000368799.1	Missense_Mutation	SNP	1 : 152279011 - 152279011 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	4391	547
ARHGEF18	23370	broad.mit.edu	37	19	7509198	7509198	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7509198G>A	ENST00000359920.6	+	4	1158	c.905G>A	c.(904-906)cGc>cAc	p.R302H	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.A260T|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.R144H	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	302	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GCCATTGGCCGCCTCTTCCCA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	57	60			NA	NA	19		NA											NA				7509198		2203	4300	6503	SO:0001583	missense			AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880	23370	23370		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	17090	protein-coding gene	gene with protein product	Rho-specific guanine nucleotide exchange factor p114		rho/rac guanine nucleotide exchange factor (GEF) 18		NA	9628581, 11318610	Standard	NM_015318	NM_015318	NA	Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.905G>A	19.37:g.7509198G>A	ENSP00000352995:p.Arg302His	NA	A8MV62|B5ME81|O60274|Q6DD92	37	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.570399	0.28003	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.63096	-0.02;-0.02	4.96	1.64	0.23874	Dbl homology (DH) domain (5);	0.270493	0.26499	N	0.024023	T	0.54431	0.1858	M	0.77103	2.36	0.35332	D	0.785731	B	0.32893	0.389	B	0.27608	0.081	T	0.57400	-0.7818	10	0.59425	D	0.04	-10.1281	4.5546	0.12130	0.2289:0.0:0.6109:0.1602	.	302	Q6ZSZ5	ARHGI_HUMAN	H	144;302	ENSP00000319200:R144H;ENSP00000352995:R302H	ENSP00000319200:R144H	R	+	2	0	ARHGEF18	7415198	0.692000	0.27719	0.946000	0.38457	0.043000	0.13939	0.865000	0.27940	0.153000	0.19213	0.556000	0.70494	CGC	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000436340.1		+	ENST00000359920.6	Missense_Mutation	SNP	19 : 7509198 - 7509198 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	333	55
GPR137	56834	broad.mit.edu	37	11	64054213	64054213	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64054213C>T	ENST00000411458.1	+	3	419	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C	GPR137_ENST00000438980.2_Missense_Mutation_p.R73C|GPR137_ENST00000313074.3_Missense_Mutation_p.R73C|GPR137_ENST00000539851.1_Missense_Mutation_p.R73C|GPR137_ENST00000377702.4_Missense_Mutation_p.R73C	NM_001170726.1	NP_001164197.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	73						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						GGCCGCCTTGCGTACCACCCT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	159	158			NA	NA	11		NA											NA				64054213		2201	4297	6498	SO:0001583	missense			AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264	56834	56834		GPCR / Unclassified : 7TM orphan receptors	24300	protein-coding gene	gene with protein product					NA	10873569, 12732197	Standard	NM_020155	NM_001170726	NA	Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000411458.1:c.391C>T	11.37:g.64054213C>T	ENSP00000411827:p.Arg131Cys	NA	Q4G0Y9|Q8N4K6	37	CCDS53655.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298482	0.81025	.	.	ENSG00000173264	ENST00000546139;ENST00000411458;ENST00000539851;ENST00000539833;ENST00000377702;ENST00000535675;ENST00000543383;ENST00000538032;ENST00000540370;ENST00000540969;ENST00000438980;ENST00000313074;ENST00000542190;ENST00000541952	T;T;T;T;T;T;T;T;T;T;T	0.71579	1.54;-0.58;-0.35;1.54;1.54;1.54;1.54;-0.41;-0.51;1.54;1.54	4.01	3.07	0.35406	.	0.000000	0.64402	D	0.000001	T	0.77315	0.4112	L	0.47716	1.5	0.58432	D	0.999993	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.994;0.997;0.994;1.0;0.968;0.996;0.994	T	0.77694	-0.2492	10	0.87932	D	0	-5.3832	10.5188	0.44907	0.1953:0.8047:0.0:0.0	.	73;131;79;73;73;73;73	B7Z7M1;B4DTG7;F5H234;Q96N19-2;F5GXI8;Q96N19;Q96N19-3	.;.;.;.;.;G137A_HUMAN;.	C	79;131;73;73;73;73;73;73;73;73;73;73;73;73	ENSP00000445570:R79C;ENSP00000411827:R131C;ENSP00000442792:R73C;ENSP00000438716:R73C;ENSP00000446342:R73C;ENSP00000441003:R73C;ENSP00000445000:R73C;ENSP00000415698:R73C;ENSP00000321698:R73C;ENSP00000441034:R73C;ENSP00000442929:R73C	ENSP00000321698:R73C	R	+	1	0	GPR137	63810789	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.337000	0.43947	0.871000	0.35750	0.561000	0.74099	CGT	GPR137-006	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396415.1		+	ENST00000411458.1	Missense_Mutation	SNP	11 : 64054213 - 64054213 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1637	276
RINT1	60561	broad.mit.edu	37	7	105177065	105177065	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:105177065G>T	ENST00000257700.2	+	3	373	c.142G>T	c.(142-144)Gat>Tat	p.D48Y		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	48					cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGAAGGTACAGATAATGGTGA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													192	194	193			NA	NA	7		NA											NA				105177065		2203	4300	6503	SO:0001583	missense			AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249	60561	60561			21876	protein-coding gene	gene with protein product		610089			NA	11096100, 15029241	Standard	NM_021930	NM_021930	NA	Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.142G>T	7.37:g.105177065G>T	ENSP00000257700:p.Asp48Tyr	NA	Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	37	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079517	0.55753	.	.	ENSG00000135249	ENST00000257700	T	0.26660	1.72	5.2	3.35	0.38373	.	0.216469	0.45867	D	0.000324	T	0.25457	0.0619	L	0.39898	1.24	0.23266	N	0.998011	D	0.53885	0.963	P	0.45946	0.498	T	0.06356	-1.0831	10	0.59425	D	0.04	-8.8286	11.9528	0.52964	0.1471:0.0:0.8529:0.0	.	48	Q6NUQ1	RINT1_HUMAN	Y	48	ENSP00000257700:D48Y	ENSP00000257700:D48Y	D	+	1	0	RINT1	104964301	1.000000	0.71417	0.024000	0.17045	0.989000	0.77384	4.669000	0.61575	0.545000	0.28902	0.491000	0.48974	GAT	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348686.1		+	ENST00000257700.2	Missense_Mutation	SNP	7 : 105177065 - 105177065 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	572	116
SMARCA4	6597	broad.mit.edu	37	19	11134266	11134266	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11134266C>T	ENST00000429416.3	+	21	3213	c.2932C>T	c.(2932-2934)Cga>Tga	p.R978*	SMARCA4_ENST00000344626.4_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000589677.1_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000541122.2_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000444061.3_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000450717.3_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000358026.2_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000413806.3_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000590574.1_Nonsense_Mutation_p.R978*	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	978					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTTCTTGCTCCGACGACTCAA	0.572		NA	F, N, Mis		NSCLC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		19	19p13.2	6597	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4		E	1	Unknown(1)	lung(1)											56	51	53			NA	NA	19		NA											NA				11134266		2202	4300	6502	SO:0001587	stop_gained			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616	6597	6597			11100	protein-coding gene	gene with protein product	SNF2-like 4, global transcription activator homologous sequence, sucrose nonfermenting-like 4, mitotic growth and transcription activator, BRM/SWI2-related gene 1, homeotic gene regulator, nuclear protein GRB1, brahma protein-like 1, ATP-dependent helicase SMARCA4	603254		SNF2L4	NA	8208605	Standard	NM_003072	NM_003072	NA	Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2932C>T	19.37:g.11134266C>T	ENSP00000395654:p.Arg978*	NA	O95052|Q9HBD3	37	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	40	8.271704	0.98737	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	.	.	.	4.9	3.82	0.43975	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.8503	12.3162	0.54958	0.2155:0.7845:0.0:0.0	.	.	.	.	X	978;978;1042;978;978;978;978;978	.	ENSP00000343896:R978X	R	+	1	2	SMARCA4	10995266	0.036000	0.19791	1.000000	0.80357	0.978000	0.69477	0.328000	0.19681	2.542000	0.85734	0.655000	0.94253	CGA	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452638.2		+	ENST00000429416.3	Nonsense_Mutation	SNP	19 : 11134266 - 11134266 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	120	24
SLC17A9	63910	broad.mit.edu	37	20	61594714	61594714	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61594714G>A	ENST00000370349.3	+	7	904	c.700G>A	c.(700-702)Gct>Act	p.A234T	SLC17A9_ENST00000370351.4_Missense_Mutation_p.A240T|SLC17A9_ENST00000488738.1_3'UTR			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	240					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CCGGAAGCCTGCTGTCTGGTG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	40	39			NA	NA	20		NA											NA				61594714		1988	4153	6141	SO:0001583	missense			AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194	63910	63910		Solute carriers	16192	protein-coding gene	gene with protein product		612107	chromosome 20 open reading frame 59, solute carrier family 17, member 9	C20orf59	NA	18375752	Standard	NM_022082	NM_022082	NA	Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370349.3:c.700G>A	20.37:g.61594714G>A	ENSP00000359374:p.Ala234Thr	NA	B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	37		.	.	.	.	.	.	.	.	.	.	G	15.60	2.881654	0.51908	.	.	ENSG00000101194	ENST00000370351;ENST00000370349	T;T	0.58506	0.33;0.33	4.86	-0.457	0.12186	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.169290	0.52532	D	0.000070	T	0.62600	0.2441	M	0.69523	2.12	0.39879	D	0.973615	P;B;B	0.35033	0.481;0.17;0.294	P;P;B	0.48982	0.597;0.474;0.343	T	0.62388	-0.6865	10	0.72032	D	0.01	.	6.8034	0.23764	0.0:0.1911:0.6399:0.169	.	260;240;234	B4DPU8;Q9BYT1;Q9BYT1-2	.;S17A9_HUMAN;.	T	240;234	ENSP00000359376:A240T;ENSP00000359374:A234T	ENSP00000359374:A234T	A	+	1	0	SLC17A9	61065159	0.865000	0.29922	0.985000	0.45067	0.768000	0.43524	1.349000	0.33998	-0.045000	0.13468	0.313000	0.20887	GCT	SLC17A9-007	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000080106.1		+	ENST00000370349.3	Missense_Mutation	SNP	20 : 61594714 - 61594714 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	190	30
PNPLA7	375775	broad.mit.edu	37	9	140374823	140374823	+	Missense_Mutation	SNP	G	G	A	rs150851825	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140374823G>A	ENST00000277531.4	-	22	2632	c.2446C>T	c.(2446-2448)Cgc>Tgc	p.R816C	PNPLA7_ENST00000371457.1_Missense_Mutation_p.R422C|PNPLA7_ENST00000406427.1_Missense_Mutation_p.R841C	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	816					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	p.R816C(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TCGGCCTGGCGCACGCAGCGC	0.687		NA											G	1	5e-04	NA	NA	2184	NA	0.9999	,	,	NA	4e-04	0.0013	NA	NA	5e-04	0.8803	LOWCOV	NA	NA	0.0011	SNP								NA				1	Substitution - Missense(1)	large_intestine(1)						G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	57	47	50		2521,2446	4.9	1	9	dbSNP_134	50	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	PNPLA7	NM_001098537.1,NM_152286.3	180,180	0,2,6500	AA,AG,GG	NA	0.0116,0.0227,0.0154	probably-damaging,probably-damaging	841/1343,816/1318	140374823	2,13002	2203	4299	6502	SO:0001583	missense			AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653	375775	375775		Patatin-like phospholipase domain containing	24768	protein-coding gene	gene with protein product		612122	chromosome 9 open reading frame 111	C9orf111	NA	16799181, 12640454, 19029121	Standard	NM_152286	XM_005266082	NA	Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.2446C>T	9.37:g.140374823G>A	ENSP00000277531:p.Arg816Cys	NA	B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	37	CCDS7045.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.13	3.767715	0.69878	2.27E-4	1.16E-4	ENSG00000130653	ENST00000371457;ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.75576	0.3868	M	0.93550	3.43	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	T	0.82446	-0.0453	10	0.87932	D	0	-35.0242	13.7651	0.62990	0.0:0.0:0.8462:0.1538	.	224;841;816;82	E2QRF8;Q6ZV29-5;Q6ZV29;B3KXH5	.;.;PLPL7_HUMAN;.	C	422;224;816;841;816;807	ENSP00000360512:R422C;ENSP00000360501:R224C;ENSP00000277531:R816C;ENSP00000384610:R841C;ENSP00000400582:R807C	ENSP00000277531:R816C	R	-	1	0	PNPLA7	139494644	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	5.202000	0.65169	2.280000	0.76307	0.313000	0.20887	CGC	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254787.1		-	ENST00000277531.4	Missense_Mutation	SNP	9 : 140374823 - 140374823 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	318	46
NECAP2	55707	broad.mit.edu	37	1	16775694	16775694	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16775694G>A	ENST00000504551.2	+	3	345	c.304G>A	c.(304-306)Gca>Aca	p.A102T	NECAP2_ENST00000337132.5_Missense_Mutation_p.A163T|NECAP2_ENST00000406746.1_Missense_Mutation_p.A163T|NECAP2_ENST00000443980.2_Missense_Mutation_p.A163T|NECAP2_ENST00000457722.2_Missense_Mutation_p.A137T			Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	163					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCAACATCGCAGTGAGTTC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	50	56			NA	NA	1		NA											NA				16775694		2203	4300	6503	SO:0001583	missense			AK021938	CCDS173.1, CCDS44066.1, CCDS44067.1	1p36.13	2008-02-05			ENSG00000157191	ENSG00000157191	55707	55707			25528	protein-coding gene	gene with protein product		611624			NA	14555962, 15494011	Standard	NM_018090	NM_001145277	NA	Approved	FLJ10420	uc001ayq.3	Q9NVZ3	OTTHUMG00000002313	ENST00000504551.2:c.304G>A	1.37:g.16775694G>A	ENSP00000424509:p.Ala102Thr	NA	B4DY19|E9PGQ8|Q5VSU4|Q5VSU5|Q9H7L1|Q9H8L1	37		.	.	.	.	.	.	.	.	.	.	G	33	5.216824	0.95104	.	.	ENSG00000157191	ENST00000337132;ENST00000504551;ENST00000457722;ENST00000406746;ENST00000263498;ENST00000443980;ENST00000492095	T;T;T;T;T;T	0.44482	0.92;1.51;0.92;0.92;0.92;0.92	5.84	5.84	0.93424	.	0.047689	0.85682	D	0.000000	T	0.56232	0.1971	L	0.56769	1.78	0.51482	D	0.999926	D;D;D	0.63880	0.987;0.993;0.989	P;P;P	0.55871	0.748;0.786;0.773	T	0.53279	-0.8461	10	0.48119	T	0.1	-16.4034	17.6382	0.88129	0.0:0.0:1.0:0.0	.	137;163;163	Q9NVZ3-4;Q9NVZ3-2;Q9NVZ3	.;.;NECP2_HUMAN	T	163;102;137;163;163;163;163	ENSP00000338746:A163T;ENSP00000424509:A102T;ENSP00000407091:A137T;ENSP00000383925:A163T;ENSP00000391942:A163T;ENSP00000427620:A163T	ENSP00000263498:A163T	A	+	1	0	NECAP2	16648281	1.000000	0.71417	0.999000	0.59377	0.739000	0.42172	9.042000	0.93793	2.760000	0.94817	0.655000	0.94253	GCA	NECAP2-012	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000368124.2		+	ENST00000504551.2	Missense_Mutation	SNP	1 : 16775694 - 16775694 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	78	19
PLEC	5339	broad.mit.edu	37	8	144997340	144997340	+	Missense_Mutation	SNP	C	C	T	rs62641756	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144997340C>T	ENST00000322810.4	-	31	7337	c.7168G>A	c.(7168-7170)Gca>Aca	p.A2390T	PLEC_ENST00000356346.3_Missense_Mutation_p.A2239T|PLEC_ENST00000436759.2_Missense_Mutation_p.A2280T|PLEC_ENST00000354589.3_Missense_Mutation_p.A2253T|PLEC_ENST00000345136.3_Missense_Mutation_p.A2253T|PLEC_ENST00000357649.2_Missense_Mutation_p.A2257T|PLEC_ENST00000527096.1_Missense_Mutation_p.A2276T|PLEC_ENST00000354958.2_Missense_Mutation_p.A2231T|PLEC_ENST00000398774.2_Missense_Mutation_p.A2221T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2390	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AAGATGAGTGCGCGGTTCTCA	0.642		NA											C	7	0.0032	0.01	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0032	1	LOWCOV,EXOME	NA	NA	9e-04	SNP								NA				0								C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	33,4355		0,33,2161	26	26	26		6757,6769,6757,6661,7168,6691,6715,6838	0.9	0	8	dbSNP_129	26	1,8583		0,1,4291	yes	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_201384.1,NM_201383.1,NM_201382.2,NM_201381.1,NM_201380.2,NM_201379.1,NM_201378.2,NM_000445.3	58,58,58,58,58,58,58,58	0,34,6452	TT,TC,CC	NA	0.0116,0.7521,0.2621	benign,benign,benign,benign,benign,benign,benign,benign	2253/4548,2257/4552,2253/4548,2221/4516,2390/4685,2231/4526,2239/4534,2280/4575	144997340	34,12938	2194	4292	6486	SO:0001583	missense			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209	5339	5339			9069	protein-coding gene	gene with protein product		601282	plectin 1, intermediate filament binding protein, 500kD, epidermolysis bullosa simplex 1 (Ogna), plectin 1, intermediate filament binding protein 500kDa	EBS1, PLEC1	NA	8633055, 8696340	Standard	NM_000445	XM_005250976	NA	Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7168G>A	8.37:g.144997340C>T	ENSP00000323856:p.Ala2390Thr	NA	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	37	CCDS43772.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	C	1.455	-0.564004	0.03939	0.007521	1.16E-4	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.76448	-0.98;-0.98;-1.02;-1.01;-1.0;-0.98;-0.98;-0.98;-0.98	5.2	0.864	0.19068	.	0.662221	0.13678	U	0.370411	T	0.53610	0.1807	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B;B;B	0.13594	0.008;0.008;0.008;0.004;0.008;0.008;0.008;0.008	B;B;B;B;B;B;B;B	0.08055	0.003;0.003;0.003;0.001;0.003;0.003;0.003;0.003	T	0.39683	-0.9602	10	0.23302	T	0.38	.	10.7897	0.46426	0.0:0.6631:0.0:0.3369	.	2280;2239;2231;2390;2221;2253;2257;2253	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	T	2253;2257;2253;2221;2390;2231;2239;2280;2276	ENSP00000344848:A2253T;ENSP00000350277:A2257T;ENSP00000346602:A2253T;ENSP00000381756:A2221T;ENSP00000323856:A2390T;ENSP00000347044:A2231T;ENSP00000348702:A2239T;ENSP00000388180:A2280T;ENSP00000434583:A2276T	ENSP00000323856:A2390T	A	-	1	0	PLEC	145069328	0.000000	0.05858	0.001000	0.08648	0.073000	0.16967	-0.228000	0.09114	0.222000	0.20900	-0.235000	0.12190	GCA	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383281.1		-	ENST00000322810.4	Missense_Mutation	SNP	8 : 144997340 - 144997340 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	203	47
HR	55806	broad.mit.edu	37	8	21986450	21986450	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21986450G>A	ENST00000381418.4	-	2	1714	c.234C>T	c.(232-234)ggC>ggT	p.G78G	HR_ENST00000312841.8_Silent_p.G78G	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	78							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGGGGCCCTCGCCCTCCACAA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	46	45			NA	NA	8		NA											NA				21986450		2203	4300	6503	SO:0001819	synonymous_variant			AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453	55806	55806			5172	protein-coding gene	gene with protein product		602302	hairless (mouse) homolog, hairless homolog (mouse)	ALUNC	NA	10051399, 9463324	Standard		NM_018411	NA	Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.234C>T	8.37:g.21986450G>A		NA	Q6GS30|Q96H33|Q9NPE1	37	CCDS6022.1																																																																																			HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214213.1		-	ENST00000381418.4	Silent	SNP	8 : 21986450 - 21986450 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	374	70
CCDC129	223075	broad.mit.edu	37	7	31618023	31618023	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31618023G>T	ENST00000409210.1	+	6	1053	c.869G>T	c.(868-870)gGa>gTa	p.G290V	CCDC129_ENST00000451887.2_Missense_Mutation_p.G408V|CCDC129_ENST00000407970.3_Missense_Mutation_p.G382V|CCDC129_ENST00000319386.3_Intron			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	382										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GCAGGCAAAGGACCAGACTCA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	43	43			NA	NA	7		NA											NA				31618023		1994	4171	6165	SO:0001583	missense			AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347	223075	223075			27363	protein-coding gene	gene with protein product					NA	14702039	Standard	NM_194300	NM_001257967	NA	Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000409210.1:c.869G>T	7.37:g.31618023G>T	ENSP00000387214:p.Gly290Val	NA	A2RU17|B3KTI9|B4E2R1	37		.	.	.	.	.	.	.	.	.	.	G	15.58	2.875476	0.51695	.	.	ENSG00000180347	ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T	0.18338	2.48;2.48;2.22	5.61	-0.895	0.10560	.	.	.	.	.	T	0.11410	0.0278	L	0.34521	1.04	0.21841	N	0.999514	B;B;B	0.20261	0.043;0.043;0.043	B;B;B	0.17433	0.018;0.018;0.018	T	0.36432	-0.9748	8	.	.	.	-7.5263	8.2676	0.31824	0.0886:0.5671:0.269:0.0752	.	408;392;382	F5H3V5;F5H2J8;Q6ZRS4	.;.;CC129_HUMAN	V	382;408;392;290	ENSP00000384416:G382V;ENSP00000395835:G408V;ENSP00000387214:G290V	.	G	+	2	0	CCDC129	31584548	0.008000	0.16893	0.007000	0.13788	0.586000	0.36452	0.146000	0.16180	-0.381000	0.07882	0.655000	0.94253	GGA	CCDC129-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000328240.2		+	ENST00000409210.1	Missense_Mutation	SNP	7 : 31618023 - 31618023 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	243	40
TMPRSS15	5651	broad.mit.edu	37	21	19642312	19642312	+	Missense_Mutation	SNP	C	C	T	rs146494364		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:19642312C>T	ENST00000284885.3	-	25	3067	c.3034G>A	c.(3034-3036)Gaa>Aaa	p.E1012K		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	1012	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TGTATCCATTCGGTAAACCTT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	LYS/GLU	0,4406		0,0,2203	104	96	98		3034	2.6	1	21	dbSNP_134	98	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMPRSS15	NM_002772.2	56	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign	1012/1020	19642312	1,13005	2203	4300	6503	SO:0001583	missense				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646	5651	5651		Serine peptidases / Transmembrane	9490	protein-coding gene	gene with protein product	proenterokinase, enteropeptidase	606635	protease, serine, 7 (enterokinase)	PRSS7	NA	8052624	Standard	NM_002772	NM_002772	NA	Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.3034G>A	21.37:g.19642312C>T	ENSP00000284885:p.Glu1012Lys	NA	Q2NKL7	37	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902014	0.33535	0.0	1.16E-4	ENSG00000154646	ENST00000284885	D	0.93019	-3.15	5.69	2.62	0.31277	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.385045	0.28062	N	0.016744	D	0.82595	0.5071	N	0.12887	0.27	0.33889	D	0.637124	B	0.12013	0.005	B	0.08055	0.003	T	0.77523	-0.2556	9	.	.	.	.	6.8671	0.24100	0.0:0.5801:0.2755:0.1444	.	1012	P98073	ENTK_HUMAN	K	1012	ENSP00000284885:E1012K	.	E	-	1	0	TMPRSS15	18564183	0.789000	0.28775	1.000000	0.80357	0.696000	0.40369	0.918000	0.28678	1.361000	0.45981	0.655000	0.94253	GAA	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000158231.2		-	ENST00000284885.3	Missense_Mutation	SNP	21 : 19642312 - 19642312 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	316	56
LCT	3938	broad.mit.edu	37	2	136575093	136575093	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136575093C>A	ENST00000264162.2	-	6	1535	c.1525G>T	c.(1525-1527)Gga>Tga	p.G509*		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	509	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)		TTCTGCCATCCACCATGATCC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	88	93			NA	NA	2		NA											NA				136575093		2203	4300	6503	SO:0001587	stop_gained			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.1525G>T	2.37:g.136575093C>A	ENSP00000264162:p.Gly509*	NA	Q4ZG58	37	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677799	0.88445	.	.	ENSG00000115850	ENST00000264162	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-30.8763	19.7399	0.96223	0.0:1.0:0.0:0.0	.	.	.	.	X	509	.	ENSP00000264162:G509X	G	-	1	0	LCT	136291563	1.000000	0.71417	0.752000	0.31206	0.020000	0.10135	7.776000	0.85560	2.736000	0.93811	0.561000	0.74099	GGA	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254657.1		-	ENST00000264162.2	Nonsense_Mutation	SNP	2 : 136575093 - 136575093 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	47
OR4Q3	441669	broad.mit.edu	37	14	20216295	20216295	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20216295G>A	ENST00000331723.1	+	1	709	c.709G>A	c.(709-711)Gtc>Atc	p.V237I		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCAGAACAAGGTCTTCTCTAC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	151	156			NA	NA	14		NA											NA				20216295		2203	4300	6503	SO:0001583	missense			AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652	441669	441669		GPCR / Class A : Olfactory receptors	15426	protein-coding gene	gene with protein product				OR4Q4	NA		Standard		NM_172194	NA	Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.709G>A	14.37:g.20216295G>A	ENSP00000330049:p.Val237Ile	NA	Q6IEX4	37	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	8.243	0.807218	0.16467	.	.	ENSG00000182652	ENST00000331723	T	0.00202	8.56	4.1	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	0.182095	0.25798	U	0.028227	T	0.00178	0.0005	L	0.31578	0.945	0.09310	N	0.999998	B	0.27166	0.17	B	0.32022	0.139	T	0.48896	-0.8994	10	0.87932	D	0	.	13.8562	0.63529	0.0:0.0:1.0:0.0	.	237	Q8NH05	OR4Q3_HUMAN	I	237	ENSP00000330049:V237I	ENSP00000330049:V237I	V	+	1	0	OR4Q3	19286135	0.986000	0.35501	0.967000	0.41034	0.006000	0.05464	3.452000	0.52971	2.106000	0.64143	0.509000	0.49947	GTC	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409818.2		+	ENST00000331723.1	Missense_Mutation	SNP	14 : 20216295 - 20216295 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	701	69
CCDC13	152206	broad.mit.edu	37	3	42775003	42775003	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42775003C>T	ENST00000310232.6	-	11	1553	c.1470G>A	c.(1468-1470)ccG>ccA	p.P490P	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	490										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CTGCTGAGGCCGGGGACTTGG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	140	136			NA	NA	3		NA											NA				42775003		2203	4300	6503	SO:0001819	synonymous_variant			AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607	152206	152206			26358	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_144719	NM_144719	NA	Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1470G>A	3.37:g.42775003C>T		NA		37	CCDS2705.1																																																																																			CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256652.1		-	ENST00000310232.6	Silent	SNP	3 : 42775003 - 42775003 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1100	214
VENTX	27287	broad.mit.edu	37	10	135051472	135051472	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135051472C>T	ENST00000325980.9	+	1	565	c.54C>T	c.(52-54)ggC>ggT	p.G18G		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	18					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		CCAGCTTTGGCTCCGTGGACT	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													8	9	9			NA	NA	10		NA											NA				135051472		2133	4233	6366	SO:0001819	synonymous_variant			AF068006	CCDS7675.1	10q26.3	2011-06-20	2011-06-01	2005-09-27	ENSG00000151650	ENSG00000151650	27287	27287		Homeoboxes / ANTP class : NKL subclass	13639	protein-coding gene	gene with protein product		607158	VENT-like homeobox 2, VENT homeobox homolog (Xenopus laevis)	VENTX2	NA	10790436	Standard	NM_014468	NM_014468	NA	Approved	HPX42B	uc010quy.1	O95231	OTTHUMG00000019307	ENST00000325980.9:c.54C>T	10.37:g.135051472C>T		NA	Q32MZ3	37	CCDS7675.1																																																																																			VENTX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051116.4		+	ENST00000325980.9	Silent	SNP	10 : 135051472 - 135051472 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	109	21
TSC2	7249	broad.mit.edu	37	16	2134252	2134252	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2134252G>T	ENST00000219476.3	+	34	4659	c.4029G>T	c.(4027-4029)gaG>gaT	p.E1343D	TSC2_ENST00000382538.6_Missense_Mutation_p.E1228D|TSC2_ENST00000350773.4_Missense_Mutation_p.E1320D|TSC2_ENST00000401874.2_Missense_Mutation_p.E1276D|TSC2_ENST00000568454.1_Missense_Mutation_p.E1287D|TSC2_ENST00000439673.2_Missense_Mutation_p.E1240D|TSC2_ENST00000353929.4_Missense_Mutation_p.E1300D	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1343					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCAGCCAGGAGGAGAAGTCGC	0.647		NA	D, Mis, N, F, S			hamartoma, renal cell			Tuberous Sclerosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		E, O	0													24	21	22			NA	NA	16		NA											NA				2134252		2187	4292	6479	SO:0001583	missense	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197	7249	7249			12363	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 160	191092		TSC4	NA	1303246, 7558029	Standard	NM_000548	NM_001077183	NA	Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.4029G>T	16.37:g.2134252G>T	ENSP00000219476:p.Glu1343Asp	NA	A7E2E2|B4DIQ7|B4DRN2|C9J378|O75275|Q4LE71|Q8TAZ1	37	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	4.947	0.175842	0.09443	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.90261	-2.46;-2.56;-2.48;-2.64;-2.6;-2.57	4.86	-0.0207	0.13955	.	0.262292	0.36665	N	0.002468	T	0.75939	0.3918	N	0.12746	0.255	0.34610	D	0.717498	B;B;B;B;B;B;B	0.23735	0.004;0.008;0.008;0.09;0.008;0.008;0.003	B;B;B;B;B;B;B	0.22386	0.008;0.019;0.019;0.039;0.019;0.019;0.004	T	0.64529	-0.6386	10	0.15499	T	0.54	-29.8903	6.3064	0.21141	0.3882:0.0:0.4925:0.1193	.	1228;1240;1320;118;1299;1276;1343	B4DIL8;P49815-6;P49815-4;B3KSR9;P49815-3;P49815-5;P49815	.;.;.;.;.;.;TSC2_HUMAN	D	1343;1277;1300;1240;1228;1320	ENSP00000219476:E1343D;ENSP00000384468:E1277D;ENSP00000248099:E1300D;ENSP00000399232:E1240D;ENSP00000371978:E1228D;ENSP00000344383:E1320D	ENSP00000219476:E1343D	E	+	3	2	TSC2	2074253	0.924000	0.31332	0.999000	0.59377	0.684000	0.39900	0.003000	0.13083	0.122000	0.18314	-0.221000	0.12465	GAG	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250657.2		+	ENST00000219476.3	Missense_Mutation	SNP	16 : 2134252 - 2134252 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	92	26
CACNA2D1	781	broad.mit.edu	37	7	81603842	81603842	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:81603842G>A	ENST00000356860.3	-	25	2320	c.1982C>T	c.(1981-1983)tCg>tTg	p.S661L	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.S673L	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	673						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GTTATTATCCGATATTTTCAG	0.269		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	53	53			NA	NA	7		NA											NA				81603842		2197	4278	6475	SO:0001583	missense			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956	781	781		Calcium channel subunits	1399	protein-coding gene	gene with protein product		114204	long intergenic non-protein coding RNA 1112	CACNL2A, CACNA2, MHS3, LINC01112	NA	8188232	Standard		XM_005250570	NA	Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356860.3:c.1982C>T	7.37:g.81603842G>A	ENSP00000349320:p.Ser661Leu	NA	Q17R45|Q9UD80|Q9UD81|Q9UD82	37	CCDS5598.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.20|15.20	2.763350|2.763350	0.49574|0.49574	.|.	.|.	ENSG00000153956|ENSG00000153956	ENST00000443883|ENST00000356860;ENST00000284088;ENST00000356253	.|T;T	.|0.07908	.|3.15;3.15	4.87|4.87	4.87|4.87	0.63330|0.63330	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.23846|0.23846	0.0577|0.0577	M|M	0.75264|0.75264	2.295|2.295	0.80722|0.80722	D|D	1|1	.|D	.|0.65815	.|0.995	.|P	.|0.56343	.|0.796	T|T	0.01159|0.01159	-1.1433|-1.1433	5|10	.|0.34782	.|T	.|0.22	-10.6814|-10.6814	17.3495|17.3495	0.87320|0.87320	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|661	.|P54289-2	.|.	W|L	172|661;680;673	.|ENSP00000349320:S661L;ENSP00000348589:S673L	.|ENSP00000284088:S680L	R|S	-|-	1|2	2|0	CACNA2D1|CACNA2D1	81441778|81441778	1.000000|1.000000	0.71417|0.71417	0.942000|0.942000	0.38095|0.38095	0.218000|0.218000	0.24690|0.24690	7.034000|7.034000	0.76511|0.76511	2.408000|2.408000	0.81797|0.81797	0.591000|0.591000	0.81541|0.81541	CGG|TCG	CACNA2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253340.4		-	ENST00000356860.3	Missense_Mutation	SNP	7 : 81603842 - 81603842 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	112	19
RP11-20I23.1	0	broad.mit.edu	37	16	2569231	2569231	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2569231C>A	ENST00000564543.1	+	2	1095	c.978C>A	c.(976-978)tgC>tgA	p.C326*	ATP6V0C_ENST00000330398.4_Missense_Mutation_p.A31D|ATP6V0C_ENST00000564973.1_5'UTR|ATP6V0C_ENST00000568562.1_Nonsense_Mutation_p.C13*|ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000565223.1_5'UTR						NA											NA						CTGGGCGCTGCCTATGGCACA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	34	39			NA	NA	16		NA											NA				2569231		2198	4300	6498	SO:0001587	stop_gained											NA	NA			NA							NA					NA						ENST00000564543.1:c.978C>A	16.37:g.2569231C>A	ENSP00000455547:p.Cys326*	NA		37		.	.	.	.	.	.	.	.	.	.	C	35	5.571982	0.96553	.	.	ENSG00000185883	ENST00000330398	T	0.59772	0.24	4.85	3.89	0.44902	ATPase, F0/V0 complex, subunit C (2);	0.000000	0.85682	D	0.000000	D	0.83727	0.5317	H	0.97983	4.12	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	D	0.88787	0.3275	10	0.87932	D	0	-8.9343	13.1691	0.59587	0.1611:0.8389:0.0:0.0	.	31	P27449	VATL_HUMAN	D	31	ENSP00000329757:A31D	ENSP00000329757:A31D	A	+	2	0	ATP6V0C	2509232	1.000000	0.71417	0.638000	0.29380	0.527000	0.34593	5.999000	0.70665	1.030000	0.39839	0.556000	0.70494	GCC	RP11-20I23.1-001	PUTATIVE	basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000435643.1		+	ENST00000564543.1	Nonsense_Mutation	SNP	16 : 2569231 - 2569231 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	210	43
PAPSS1	9061	broad.mit.edu	37	4	108535481	108535481	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:108535481T>G	ENST00000265174.4	-	12	2071	c.1799A>C	c.(1798-1800)aAa>aCa	p.K600T		NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	600					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		TTCAGGTGGTTTCTGGCCTTC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	110	113			NA	NA	4		NA											NA				108535481		2203	4300	6503	SO:0001583	missense			Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	9061	9061	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262			NA	9576487, 9771708	Standard		NM_005443	NA	Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.1799A>C	4.37:g.108535481T>G	ENSP00000265174:p.Lys600Thr	NA	O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	37	CCDS3676.1	.	.	.	.	.	.	.	.	.	.	T	15.51	2.854642	0.51376	.	.	ENSG00000138801	ENST00000265174	T	0.30714	1.52	6.16	6.16	0.99307	Sulphate adenylyltransferase (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.041594	0.85682	D	0.000000	T	0.15696	0.0378	N	0.02368	-0.58	0.46609	D	0.999125	B	0.11235	0.004	B	0.20184	0.028	T	0.18023	-1.0350	10	0.22109	T	0.4	-24.0308	16.8061	0.85666	0.0:0.0:0.0:1.0	.	600	O43252	PAPS1_HUMAN	T	600	ENSP00000265174:K600T	ENSP00000265174:K600T	K	-	2	0	PAPSS1	108754930	1.000000	0.71417	0.987000	0.45799	0.992000	0.81027	5.642000	0.67888	2.367000	0.80283	0.528000	0.53228	AAA	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253946.2		-	ENST00000265174.4	Missense_Mutation	SNP	4 : 108535481 - 108535481 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	525	101
ANKRD50	57182	broad.mit.edu	37	4	125592066	125592066	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:125592066G>A	ENST00000504087.1	-	4	3403	c.2366C>T	c.(2365-2367)gCg>gTg	p.A789V	ANKRD50_ENST00000515641.1_Missense_Mutation_p.A610V	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	789										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ACCCATAGACGCTGCTGCTAA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	131	135			NA	NA	4		NA											NA				125592066		2203	4300	6503	SO:0001583	missense			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458	57182	57182		Ankyrin repeat domain containing	29223	protein-coding gene	gene with protein product					NA		Standard	NM_020337	NM_020337	NA	Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.2366C>T	4.37:g.125592066G>A	ENSP00000425658:p.Ala789Val	NA	A8K4V3|Q6N064|Q6ZSE6	37	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184636	0.57909	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.63417	-0.04;-0.04	4.99	4.99	0.66335	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.70430	0.3223	L	0.46819	1.47	0.80722	D	1	D	0.59767	0.986	P	0.57009	0.811	T	0.72367	-0.4315	10	0.56958	D	0.05	.	18.4729	0.90781	0.0:0.0:1.0:0.0	.	789	Q9ULJ7	ANR50_HUMAN	V	789;610	ENSP00000425658:A789V;ENSP00000425355:A610V	ENSP00000425658:A789V	A	-	2	0	ANKRD50	125811516	1.000000	0.71417	0.916000	0.36221	0.746000	0.42486	9.060000	0.93907	2.606000	0.88127	0.561000	0.74099	GCG	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364775.1		-	ENST00000504087.1	Missense_Mutation	SNP	4 : 125592066 - 125592066 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	515	98
RAP2A	5911	broad.mit.edu	37	13	98086853	98086853	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:98086853G>A	ENST00000245304.4	+	1	378	c.129G>A	c.(127-129)gaG>gaA	p.E43E		NM_021033.6	NP_066361.1	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family	43					actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade	recycling endosome membrane	GTP binding|GTPase activity|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			ACCGCAAGGAGATCGAGGTGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	110	113			NA	NA	13		NA											NA				98086853		2203	4300	6503	SO:0001819	synonymous_variant			AF205602	CCDS9485.1	13q34	2014-05-09			ENSG00000125249	ENSG00000125249	5911	5911			9861	protein-coding gene	gene with protein product		179540		RAP2	NA		Standard		NM_021033	NA	Approved	K-REV	uc001vnd.3	P10114	OTTHUMG00000017240	ENST00000245304.4:c.129G>A	13.37:g.98086853G>A		NA	B2RCJ1|Q5JSC1|Q5JSC2	37	CCDS9485.1																																																																																			RAP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045528.4		+	ENST00000245304.4	Silent	SNP	13 : 98086853 - 98086853 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	693	120
NYNRIN	57523	broad.mit.edu	37	14	24877997	24877997	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24877997C>A	ENST00000382554.3	+	4	1315	c.997C>A	c.(997-999)Ctc>Atc	p.L333I		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	333					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGATAAACTCCTCTTCCAACC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	61	59			NA	NA	14		NA											NA				24877997		2092	4221	6313	SO:0001583	missense			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978	57523	57523			20165	protein-coding gene	gene with protein product	Cousin of GIN1		KIAA1305	KIAA1305	NA	19561090, 17114934	Standard		NM_025081	NA	Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.997C>A	14.37:g.24877997C>A	ENSP00000371994:p.Leu333Ile	NA	Q6P153|Q86TR3|Q9HAC4	37	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	C	4.780	0.144986	0.09134	.	.	ENSG00000205978	ENST00000382554	T	0.09723	2.95	5.15	-0.429	0.12303	.	1.504540	0.04431	N	0.369299	T	0.05960	0.0155	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.15484	0.013	T	0.39143	-0.9628	10	0.59425	D	0.04	.	4.3648	0.11220	0.0:0.3338:0.1908:0.4754	.	333	Q9P2P1	NYNRI_HUMAN	I	333	ENSP00000371994:L333I	ENSP00000371994:L333I	L	+	1	0	NYNRIN	23947837	0.000000	0.05858	0.177000	0.23020	0.115000	0.19883	0.005000	0.13129	0.024000	0.15214	-0.136000	0.14681	CTC	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412939.1		+	ENST00000382554.3	Missense_Mutation	SNP	14 : 24877997 - 24877997 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	201	30
ABCA9	10350	broad.mit.edu	37	17	66978725	66978725	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66978725C>A	ENST00000340001.4	-	37	4909	c.4698G>T	c.(4696-4698)caG>caT	p.Q1566H	ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Missense_Mutation_p.Q1528H	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1566					transport	integral to membrane	ATP binding|ATPase activity	p.Q1566H(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TGAAGAAAGCCTGTGATAAAG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											139	135	136			NA	NA	17		NA											NA				66978725		2203	4300	6503	SO:0001583	missense			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258	10350	10350		ATP binding cassette transporters / subfamily A	39	protein-coding gene	gene with protein product		612507			NA		Standard	NM_172386	XM_005256934	NA	Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.4698G>T	17.37:g.66978725C>A	ENSP00000342216:p.Gln1566His	NA	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	37	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597965	0.46318	.	.	ENSG00000154258	ENST00000340001;ENST00000453985	D	0.84442	-1.85	4.9	2.88	0.33553	.	0.774711	0.10960	N	0.615066	D	0.83110	0.5183	M	0.69248	2.105	0.80722	D	1	B	0.17667	0.023	B	0.23018	0.043	T	0.76564	-0.2913	10	0.52906	T	0.07	.	8.5998	0.33738	0.1522:0.7666:0.0:0.0811	.	1566	Q8IUA7	ABCA9_HUMAN	H	1566;1511	ENSP00000342216:Q1566H	ENSP00000342216:Q1566H	Q	-	3	2	ABCA9	64490320	0.015000	0.18098	0.981000	0.43875	0.996000	0.88848	-0.046000	0.11983	0.569000	0.29329	0.609000	0.83330	CAG	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277072.2		-	ENST00000340001.4	Missense_Mutation	SNP	17 : 66978725 - 66978725 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	567	94
EGR3	1960	broad.mit.edu	37	8	22548815	22548815	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22548815C>T	ENST00000317216.2	-	2	692	c.335G>A	c.(334-336)gGg>gAg	p.G112E	RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000524088.1_5'UTR|EGR3_ENST00000522910.1_Missense_Mutation_p.G74E|EGR3_ENST00000519492.1_3'UTR	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	112					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)		CGGGGGCACCCCCAAGATGCC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	40	39			NA	NA	8		NA											NA				22548815		2201	4299	6500	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.335G>A	8.37:g.22548815C>T	ENSP00000318057:p.Gly112Glu	NA	A8K8U9|Q2M3W2	37	CCDS6033.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697254	0.68386	.	.	ENSG00000179388	ENST00000317216;ENST00000522910	T;T	0.27720	1.65;1.65	5.39	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.53965	0.1829	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.57780	-0.7752	10	0.87932	D	0	-14.7611	12.5883	0.56430	0.1667:0.8333:0.0:0.0	.	74;112	E7EW38;Q06889	.;EGR3_HUMAN	E	112;74	ENSP00000318057:G112E;ENSP00000430310:G74E	ENSP00000318057:G112E	G	-	2	0	EGR3	22604760	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.840000	0.62817	2.517000	0.84864	0.462000	0.41574	GGG	EGR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000215098.1		-	ENST00000317216.2	Missense_Mutation	SNP	8 : 22548815 - 22548815 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	424	78
SLC2A1	6513	broad.mit.edu	37	1	43394659	43394659	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43394659C>T	ENST00000426263.3	-	8	1196	c.1018G>A	c.(1018-1020)Ggc>Agc	p.G340S	SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	340					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CCAGCGAGGCCTATGAGGTGC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	109	111			NA	NA	1		NA											NA				43394659		2203	4300	6503	SO:0001583	missense			K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394	6513	6513		Solute carriers	11005	protein-coding gene	gene with protein product		138140	human T-cell leukemia virus (I and II) receptor	GLUT1, GLUT, HTLVR	NA	8839927, 14622599, 18451999	Standard	NM_006516	NM_006516	NA	Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.1018G>A	1.37:g.43394659C>T	ENSP00000416293:p.Gly340Ser	NA	A8K9S6|B2R620|D3DPX0|O75535|Q147X2	37	CCDS477.1	.	.	.	.	.	.	.	.	.	.	C	36	5.666946	0.96745	.	.	ENSG00000117394	ENST00000426263;ENST00000372501;ENST00000397019	D	0.84800	-1.9	5.52	5.52	0.82312	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.90642	0.7065	L	0.60455	1.87	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	D	0.91337	0.5094	10	0.87932	D	0	.	16.9679	0.86291	0.0:1.0:0.0:0.0	.	340	P11166	GTR1_HUMAN	S	340;340;282	ENSP00000416293:G340S	ENSP00000361579:G340S	G	-	1	0	SLC2A1	43167246	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.440000	0.80464	2.601000	0.87937	0.650000	0.86243	GGC	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000020358.2		-	ENST00000426263.3	Missense_Mutation	SNP	1 : 43394659 - 43394659 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	778	142
NR1H4	9971	broad.mit.edu	37	12	100930371	100930371	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100930371G>T	ENST00000548884.1	+	7	1343	c.802G>T	c.(802-804)Gaa>Taa	p.E268*	NR1H4_ENST00000188403.7_Nonsense_Mutation_p.E278*|NR1H4_ENST00000551379.1_Nonsense_Mutation_p.E282*|NR1H4_ENST00000549996.1_Nonsense_Mutation_p.E221*|NR1H4_ENST00000392986.3_Nonsense_Mutation_p.E272*	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	282	Ligand-binding.				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.E268K(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						GATGCCTCAGGAAATAACAAA	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	skin(1)											40	40	40			NA	NA	12		NA											NA				100930371		2203	4296	6499	SO:0001587	stop_gained			U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504	9971	9971		Nuclear hormone receptors	7967	protein-coding gene	gene with protein product		603826			NA	7774010, 9223286	Standard	NM_005123	NM_001206977	NA	Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000548884.1:c.802G>T	12.37:g.100930371G>T	ENSP00000448506:p.Glu268*	NA	A1L4K5|B7Z412|B7ZM06|Q8NFP5|Q8NFP6|Q92943	37	CCDS9078.1	.	.	.	.	.	.	.	.	.	.	G	40	8.394686	0.98791	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000549996;ENST00000551379;ENST00000188403	.	.	.	5.86	5.86	0.93980	.	0.047144	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	13.3938	0.60838	0.0718:0.0:0.9282:0.0	.	.	.	.	X	268;272;221;282;278	.	ENSP00000188403:E278X	E	+	1	0	NR1H4	99454502	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.214000	0.77958	2.763000	0.94921	0.585000	0.79938	GAA	NR1H4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408677.2		+	ENST00000548884.1	Nonsense_Mutation	SNP	12 : 100930371 - 100930371 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	173	28
LECT2	3950	broad.mit.edu	37	5	135287026	135287026	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:135287026A>G	ENST00000274507.1	-	3	375	c.175T>C	c.(175-177)Ttg>Ctg	p.L59L	FBXL21_ENST00000467490.1_RNA|LECT2_ENST00000522943.1_Silent_p.L59L|LECT2_ENST00000514447.2_Silent_p.L59L|LECT2_ENST00000471827.1_5'UTR|LECT2_ENST00000512872.1_5'UTR	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2	59					chemotaxis|skeletal system development	cytoplasm|extracellular space				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCAGAGCACAAGATGTCCACA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	111	116			NA	NA	5		NA											NA				135287026		2203	4300	6503	SO:0001819	synonymous_variant			AB007546	CCDS4190.1	5q31.1	2008-05-15			ENSG00000145826	ENSG00000145826	3950	3950			6550	protein-coding gene	gene with protein product		602882			NA	9545637	Standard	NM_002302	NM_002302	NA	Approved	chm-II, chm2	uc003lbe.1	O14960	OTTHUMG00000129146	ENST00000274507.1:c.175T>C	5.37:g.135287026A>G		NA	B2RA90|O14565|Q52M49	37	CCDS4190.1																																																																																			LECT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251209.1		-	ENST00000274507.1	Silent	SNP	5 : 135287026 - 135287026 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	321	64
MEI1	150365	broad.mit.edu	37	22	42154490	42154490	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42154490G>A	ENST00000401548.3	+	18	2113	c.2073G>A	c.(2071-2073)caG>caA	p.Q691Q	MEI1_ENST00000540880.1_Silent_p.Q9Q|MEI1_ENST00000540833.1_Silent_p.Q431Q|MEI1_ENST00000400107.1_Silent_p.Q59Q|MEI1_ENST00000300398.4_5'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	691							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCCAGAGACAGTACTGCATCC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	57	56			NA	NA	22		NA											NA				42154490		2049	4190	6239	SO:0001819	synonymous_variant			AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077	150365	150365			28613	protein-coding gene	gene with protein product	spermatogenesis associated 38	608797			NA	16683055	Standard	NM_152513	XM_006724154	NA	Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.2073G>A	22.37:g.42154490G>A		NA	B7Z745|Q1XAP1|Q1XAP2|Q8IYJ5|Q8N5K5|Q8N9H3|Q8TC68	37	CCDS46718.1																																																																																			MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000074937.3		+	ENST00000401548.3	Silent	SNP	22 : 42154490 - 42154490 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	146	21
SLC45A4	57210	broad.mit.edu	37	8	142228381	142228381	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142228381C>T	ENST00000519067.1	-	4	1508	c.1205G>A	c.(1204-1206)cGc>cAc	p.R402H	SLC45A4_ENST00000024061.3_Missense_Mutation_p.R402H|SLC45A4_ENST00000517878.1_Missense_Mutation_p.R453H|SLC45A4_ENST00000433583.2_Missense_Mutation_p.R395H			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	453					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GCTCATGCTGCGCGACGGCTT	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	44	45			NA	NA	8		NA											NA				142228381		2203	4299	6502	SO:0001583	missense			AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22					57210	57210		Solute carriers	29196	protein-coding gene	gene with protein product					NA		Standard	XM_050325	NM_001080431	NA	Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000519067.1:c.1205G>A	8.37:g.142228381C>T	ENSP00000429059:p.Arg402His	NA	Q6ZRI2|Q9ULU3	37		.	.	.	.	.	.	.	.	.	.	C	31	5.103015	0.94245	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.95382	0.8501	M	0.68593	2.085	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.971;0.984;0.976	D	0.94106	0.7366	10	0.33940	T	0.23	-47.8602	19.116	0.93340	0.0:1.0:0.0:0.0	.	453;402;402	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	H	402;453;395;402	ENSP00000429059:R402H;ENSP00000428137:R453H;ENSP00000400799:R395H;ENSP00000024061:R402H	ENSP00000024061:R402H	R	-	2	0	SLC45A4	142297563	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	4.317000	0.59184	2.535000	0.85469	0.561000	0.74099	CGC	SLC45A4-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000378932.2		-	ENST00000519067.1	Missense_Mutation	SNP	8 : 142228381 - 142228381 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	319	13
HELZ2	85441	broad.mit.edu	37	20	62194454	62194454	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62194454C>T	ENST00000467148.1	-	8	5790	c.5721G>A	c.(5719-5721)ccG>ccA	p.P1907P	HELZ2_ENST00000427522.2_Silent_p.P1338P	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator	NA											NA						GGCTGAAGCCCGGTGCCACCG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													7	9	8			NA	NA	20		NA											NA				62194454		2146	4240	6386	SO:0001819	synonymous_variant			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589	85441	85441			30021	protein-coding gene	gene with protein product	peroxisomal proliferator activated receptor A interacting complex 285, PPARG-DBD-interacting protein 1	611265			NA	11214970, 12189208, 16239304	Standard	NM_001037335	NM_001037335	NA	Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.5721G>A	20.37:g.62194454C>T		NA		37	CCDS33508.1																																																																																			HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354127.1		-	ENST00000467148.1	Silent	SNP	20 : 62194454 - 62194454 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	64	11
TSG101	7251	broad.mit.edu	37	11	18536312	18536312	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18536312C>T	ENST00000536719.1	-	4	404	c.270G>A	c.(268-270)aaG>aaA	p.K90K	TSG101_ENST00000543087.1_5'UTR|TSG101_ENST00000251968.3_Silent_p.K90K|TSG101_ENST00000357193.3_Intron			Q99816	TS101_HUMAN	tumor susceptibility 101	90	UEV.				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						AACTAGTAGGCTTAACAAAAC	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(99;1348 1396 8611 26475 50572)							NA				0													156	168	164			NA	NA	11		NA											NA				18536312		2199	4291	6490	SO:0001819	synonymous_variant			U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319	7251	7251			15971	protein-coding gene	gene with protein product		601387	tumor susceptibility gene 10, tumor susceptibility gene 101	TSG10	NA	9019400, 9241264	Standard	NM_006292	NM_006292	NA	Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000536719.1:c.270G>A	11.37:g.18536312C>T		NA	Q9BUM5	37																																																																																				TSG101-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000395905.2		-	ENST00000536719.1	Silent	SNP	11 : 18536312 - 18536312 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	726	101
PARP15	165631	broad.mit.edu	37	3	122353966	122353966	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122353966T>G	ENST00000483793.1	+	8	1127	c.1087T>G	c.(1087-1089)Ttc>Gtc	p.F363V	PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000310366.4_Missense_Mutation_p.F324V|PARP15_ENST00000464300.2_Missense_Mutation_p.F558V|PARP15_ENST00000493645.1_Missense_Mutation_p.F255V			Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	536	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		GAGACTCCTCTTCCATGGGAC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	79	82			NA	NA	3		NA											NA				122353966		2203	4300	6503	SO:0001583	missense			AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200	165631	165631		Poly (ADP-ribose) polymerases	26876	protein-coding gene	gene with protein product		612066			NA	15273990	Standard	NM_152615	NM_001113523	NA	Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000483793.1:c.1087T>G	3.37:g.122353966T>G	ENSP00000417785:p.Phe363Val	NA	Q8N1K3	37		.	.	.	.	.	.	.	.	.	.	T	21.3	4.128775	0.77549	.	.	ENSG00000173200	ENST00000464300;ENST00000483793;ENST00000542823;ENST00000310366;ENST00000493645	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	3.83	3.83	0.44106	Poly(ADP-ribose) polymerase, catalytic domain (2);	.	.	.	.	T	0.62660	0.2446	H	0.97103	3.94	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.996;0.989;0.999;0.998	T	0.74592	-0.3614	9	0.87932	D	0	.	11.5636	0.50792	0.0:0.0:0.0:1.0	.	255;324;305;363;536	B7ZL48;Q460N3-2;F5H8I1;C9J7L3;Q460N3	.;.;.;.;PAR15_HUMAN	V	558;363;305;324;255	ENSP00000417214:F558V;ENSP00000417785:F363V;ENSP00000308436:F324V;ENSP00000419488:F255V	ENSP00000308436:F324V	F	+	1	0	PARP15	123836656	1.000000	0.71417	0.924000	0.36721	0.989000	0.77384	7.617000	0.83032	1.609000	0.50190	0.533000	0.62120	TTC	PARP15-003	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000356168.2		+	ENST00000483793.1	Missense_Mutation	SNP	3 : 122353966 - 122353966 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	325	65
DENND5A	23258	broad.mit.edu	37	11	9200460	9200460	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9200460C>A	ENST00000530044.1	-	7	1633	c.1616G>T	c.(1615-1617)aGc>aTc	p.S539I	DENND5A_ENST00000328194.3_Missense_Mutation_p.S539I			Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	539	dDENN.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTTATCCTGGCTGGGTTGGAT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	133	140			NA	NA	11		NA											NA				9200460		2201	4296	6497	SO:0001583	missense			AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014	23258	23258		DENN/MADD domain containing	19344	protein-coding gene	gene with protein product			RAB6 interacting protein 1	RAB6IP1	NA	10470851	Standard	NM_015213	NM_015213	NA	Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000530044.1:c.1616G>T	11.37:g.9200460C>A	ENSP00000435866:p.Ser539Ile	NA	Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	37	CCDS58119.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.687429	0.68157	.	.	ENSG00000184014	ENST00000328194;ENST00000530044	T;T	0.47177	0.85;0.85	5.06	5.06	0.68205	dDENN (3);	0.043766	0.85682	D	0.000000	T	0.56673	0.2001	L	0.29908	0.895	0.80722	D	1	P;P	0.49447	0.91;0.924	P;P	0.60473	0.752;0.875	T	0.58538	-0.7619	10	0.54805	T	0.06	.	18.7769	0.91915	0.0:1.0:0.0:0.0	.	539;539	E9PS91;Q6IQ26	.;DEN5A_HUMAN	I	539	ENSP00000328524:S539I;ENSP00000435866:S539I	ENSP00000328524:S539I	S	-	2	0	DENND5A	9157036	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	3.168000	0.50801	2.498000	0.84270	0.655000	0.94253	AGC	DENND5A-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385912.1		-	ENST00000530044.1	Missense_Mutation	SNP	11 : 9200460 - 9200460 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	643	124
MED15	51586	broad.mit.edu	37	22	20937634	20937634	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20937634A>C	ENST00000263205.7	+	13	1759	c.1690A>C	c.(1690-1692)Agt>Cgt	p.S564R	MED15_ENST00000292733.7_Missense_Mutation_p.S524R|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000382974.2_Missense_Mutation_p.S453R|MED15_ENST00000541476.1_Missense_Mutation_p.S498R|MED15_ENST00000425759.2_Missense_Mutation_p.S413R|MED15_ENST00000406969.1_Missense_Mutation_p.S498R	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	564					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			AAAGGACCTGAGTAAGATGAA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	118	116			NA	NA	22		NA											NA				20937634		2203	4300	6503	SO:0001583	missense			AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917	51586	51586			14248	protein-coding gene	gene with protein product		607372	trinucleotide repeat containing 7, PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein	TNRC7, PCQAP	NA	11024300, 11414760, 15175163	Standard	NM_015889	XM_005261632	NA	Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.1690A>C	22.37:g.20937634A>C	ENSP00000263205:p.Ser564Arg	NA	D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	37	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.871776	0.91587	.	.	ENSG00000099917	ENST00000425759;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000542312	.	.	.	5.7	5.7	0.88788	Mediator complex, subunit Med15, metazoa (1);	0.121832	0.85682	N	0.000000	T	0.77805	0.4185	M	0.72353	2.195	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;0.997;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.994;0.996;0.951;0.994;0.989;0.999	T	0.80374	-0.1409	9	0.87932	D	0	.	13.922	0.63937	1.0:0.0:0.0:0.0	.	494;543;180;498;524;564	B4DGD6;Q6PKB8;B3KWF1;G3V1P5;Q96RN5-2;Q96RN5	.;.;.;.;.;MED15_HUMAN	R	413;524;564;498;453;498;494	.	ENSP00000263205:S564R	S	+	1	0	MED15	19267634	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.883000	0.92426	2.189000	0.69895	0.459000	0.35465	AGT	MED15-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320177.2		+	ENST00000263205.7	Missense_Mutation	SNP	22 : 20937634 - 20937634 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	920	40
OGDH	4967	broad.mit.edu	37	7	44747498	44747498	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44747498C>T	ENST00000449767.1	+	23	3050	c.2960C>T	c.(2959-2961)gCg>gTg	p.A987V	OGDH_ENST00000444676.1_Missense_Mutation_p.A1006V|OGDH_ENST00000439616.2_Missense_Mutation_p.A841V|OGDH_ENST00000222673.5_Missense_Mutation_p.A991V|OGDH_ENST00000543843.1_Missense_Mutation_p.A942V|OGDH_ENST00000447398.1_Missense_Mutation_p.A1002V	NM_001165036.1	NP_001158508.1	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	991					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CGGGACCCAGCGGCTGCTCCA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	45	45			NA	NA	7		NA											NA				44747498		2203	4300	6503	SO:0001583	missense			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	4967	4967	1.2.4.2		8124	protein-coding gene	gene with protein product		613022			NA	8020988, 1542694	Standard		NM_002541	NA	Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000449767.1:c.2960C>T	7.37:g.44747498C>T	ENSP00000392878:p.Ala987Val	NA	D3DVL0|Q9UDX0	37	CCDS55107.1	.	.	.	.	.	.	.	.	.	.	C	35	5.455110	0.96223	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	T;T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75;2.75	5.0	5.0	0.66597	.	0.055387	0.64402	D	0.000001	T	0.38665	0.1049	M	0.93720	3.45	0.80722	D	1	D;D;D;D;D	0.69078	0.99;0.99;0.997;0.997;0.997	P;P;P;P;P	0.55055	0.567;0.567;0.767;0.767;0.767	T	0.57100	-0.7869	10	0.87932	D	0	-18.9093	18.2463	0.89986	0.0:1.0:0.0:0.0	.	786;841;987;1002;991	B4E3E9;E9PFG7;E9PBM1;E9PDF2;Q02218	.;.;.;.;ODO1_HUMAN	V	841;987;1002;1006;991;942	ENSP00000398576:A841V;ENSP00000392878:A987V;ENSP00000388183:A1002V;ENSP00000414662:A1006V;ENSP00000222673:A991V;ENSP00000443821:A942V	ENSP00000222673:A991V	A	+	2	0	OGDH	44714023	1.000000	0.71417	0.234000	0.24042	0.894000	0.52154	7.439000	0.80444	2.474000	0.83562	0.313000	0.20887	GCG	OGDH-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339392.1		+	ENST00000449767.1	Missense_Mutation	SNP	7 : 44747498 - 44747498 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	439	79
B4GALNT3	283358	broad.mit.edu	37	12	657400	657400	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:657400C>T	ENST00000266383.5	+	9	803	c.790C>T	c.(790-792)Cga>Tga	p.R264*	B4GALNT3_ENST00000544638.1_3'UTR	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	264						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CTTCCAGTGGCGACGGAACGA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	99	109			NA	NA	12		NA											NA				657400		2203	4300	6503	SO:0001587	stop_gained			AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	283358	283358	2.4.1.-	Beta 4-glycosyltransferases	24137	protein-coding gene	gene with protein product		612220			NA	12966086	Standard	NM_173593	NM_173593	NA	Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.790C>T	12.37:g.657400C>T	ENSP00000266383:p.Arg264*	NA	Q6ZNC1|Q8N7T6	37	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.396368	0.62177	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	.	.	.	5.24	3.34	0.38264	.	0.228496	0.38778	N	0.001568	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.8307	8.0176	0.30389	0.3527:0.5677:0.0:0.0796	.	.	.	.	X	264;166	.	ENSP00000266383:R264X	R	+	1	2	B4GALNT3	527661	1.000000	0.71417	0.992000	0.48379	0.385000	0.30292	1.776000	0.38594	0.530000	0.28619	0.561000	0.74099	CGA	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251406.2		+	ENST00000266383.5	Nonsense_Mutation	SNP	12 : 657400 - 657400 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	333	50
KCNH6	81033	broad.mit.edu	37	17	61613207	61613207	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61613207C>T	ENST00000583023.1	+	6	1290	c.1279C>T	c.(1279-1281)Cgg>Tgg	p.R427W	KCNH6_ENST00000581784.1_Intron|KCNH6_ENST00000314672.5_Missense_Mutation_p.R427W|KCNH6_ENST00000456941.2_Intron|KCNH6_ENST00000580652.1_Missense_Mutation_p.R427W	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	427					regulation of transcription, DNA-dependent|signal transduction			p.R427W(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CAATGTGGAGCGGCCCTACCT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											80	73	76			NA	NA	17		NA											NA				61613207		2203	4300	6503	SO:0001583	missense			AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826	81033	81033		Potassium channels, Voltage-gated ion channels / Potassium channels	18862	protein-coding gene	gene with protein product		608168			NA	16382104	Standard	NM_030779	NM_030779	NA	Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.1279C>T	17.37:g.61613207C>T	ENSP00000463533:p.Arg427Trp	NA	Q9BRD7	37	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.855162	0.32791	.	.	ENSG00000173826	ENST00000314672	D	0.98876	-5.2	4.36	3.36	0.38483	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98985	0.9654	M	0.82630	2.6	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;P	0.79784	0.993;0.964;0.964;0.827	D	0.99457	1.0942	10	0.66056	D	0.02	.	13.4504	0.61167	0.158:0.842:0.0:0.0	.	304;427;427;427	B4DPJ3;B4DKC0;Q9H252;Q9H252-3	.;.;KCNH6_HUMAN;.	W	427	ENSP00000318212:R427W	ENSP00000318212:R427W	R	+	1	2	KCNH6	58966939	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	3.106000	0.50322	0.996000	0.38943	0.313000	0.20887	CGG	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443853.1		+	ENST00000583023.1	Missense_Mutation	SNP	17 : 61613207 - 61613207 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	473	41
ARMC4	55130	broad.mit.edu	37	10	28224123	28224123	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28224123C>A	ENST00000305242.5	-	16	2403	c.2311G>T	c.(2311-2313)Gaa>Taa	p.E771*	ARMC4_ENST00000545014.1_Nonsense_Mutation_p.E296*|ARMC4_ENST00000537576.1_Nonsense_Mutation_p.E463*	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	771							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ACAAGTACTTCTTCAGGCTGA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	136	138			NA	NA	10		NA											NA				28224123		2203	4300	6503	SO:0001587	stop_gained			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126	55130	55130		Armadillo repeat containing	25583	protein-coding gene	gene with protein product		615408			NA	11230166	Standard	NM_018076	XM_005252485	NA	Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.2311G>T	10.37:g.28224123C>A	ENSP00000306410:p.Glu771*	NA	Q9H0C0	37	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	C	42	9.429866	0.99169	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	.	.	.	5.92	5.92	0.95590	.	0.087917	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-38.5196	20.3206	0.98668	0.0:1.0:0.0:0.0	.	.	.	.	X	463;771;296	.	ENSP00000306410:E771X	E	-	1	0	ARMC4	28264129	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.762000	0.85270	2.809000	0.96659	0.655000	0.94253	GAA	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047339.1		-	ENST00000305242.5	Nonsense_Mutation	SNP	10 : 28224123 - 28224123 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	465	19
NPHP4	261734	broad.mit.edu	37	1	5935119	5935119	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:5935119C>A	ENST00000378156.4	-	21	3124	c.2859G>T	c.(2857-2859)caG>caT	p.Q953H	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	953					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CGGCGATGACCTGTAGGTCCC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	59	56			NA	NA	1		NA											NA				5935119		2190	4285	6475	SO:0001583	missense			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697	261734	261734			19104	protein-coding gene	gene with protein product	nephroretinin, nephrocystin-4, POC10 centriolar protein homolog (Chlamydomonas)	607215			NA	11920287, 12205563	Standard		XR_244787	NA	Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.2859G>T	1.37:g.5935119C>A	ENSP00000367398:p.Gln953His	NA		37	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	c	14.53	2.564220	0.45694	.	.	ENSG00000131697	ENST00000378156	D	0.87966	-2.32	4.88	3.95	0.45737	.	0.250550	0.33127	N	0.005249	D	0.83487	0.5265	L	0.43152	1.355	0.32498	N	0.539217	P	0.42337	0.776	B	0.42798	0.398	D	0.85336	0.1093	10	0.40728	T	0.16	.	12.6168	0.56582	0.0:0.9189:0.0:0.0811	.	953	O75161	NPHP4_HUMAN	H	953	ENSP00000367398:Q953H	ENSP00000367398:Q953H	Q	-	3	2	NPHP4	5857706	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	2.414000	0.44627	1.048000	0.40298	0.550000	0.68814	CAG	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000001715.2		-	ENST00000378156.4	Missense_Mutation	SNP	1 : 5935119 - 5935119 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	130	25
DIRC1	116093	broad.mit.edu	37	2	189599453	189599453	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189599453G>A	ENST00000308100.4	-	2	465	c.195C>T	c.(193-195)tgC>tgT	p.C65C	AC079613.1_ENST00000431708.1_RNA	NM_052952.2	NP_443184.1	Q969H9	DIRC1_HUMAN	disrupted in renal carcinoma 1	65										large_intestine(1)|lung(6)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)			GTTTATAAAAGCATGTGTCTG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	153	155			NA	NA	2		NA											NA				189599453		2203	4300	6503	SO:0001819	synonymous_variant			AY039011	CCDS2296.1	2q33	2008-05-22			ENSG00000174325	ENSG00000174325	116093	116093			15760	protein-coding gene	gene with protein product		606423			NA	11587072	Standard	NM_052952	NM_052952	NA	Approved		uc002uqi.1	Q969H9	OTTHUMG00000132646	ENST00000308100.4:c.195C>T	2.37:g.189599453G>A		NA	Q08AK1	37	CCDS2296.1																																																																																			DIRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255897.2		-	ENST00000308100.4	Silent	SNP	2 : 189599453 - 189599453 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	742	184
NDUFB9	4715	broad.mit.edu	37	8	125559321	125559321	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:125559321G>A	ENST00000522532.1	+	3	422	c.375G>A	c.(373-375)tgG>tgA	p.W125*	NDUFB9_ENST00000517367.1_Nonsense_Mutation_p.W114*|NDUFB9_ENST00000518008.1_Nonsense_Mutation_p.W125*|NDUFB9_ENST00000276689.3_Nonsense_Mutation_p.W125*			Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	125					mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	GAGAACAGTGGAAGAAACTGC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													218	221	220			NA	NA	8		NA											NA				125559321		2203	4300	6503	SO:0001587	stop_gained			AF044956	CCDS6352.1	8q24.13	2011-07-04	2002-08-29		ENSG00000147684	ENSG00000147684	4715	4715		LYR motif containing, Mitochondrial respiratory chain complex / Complex I	7704	protein-coding gene	gene with protein product	complex I B22 subunit	601445	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9 (22kD, B22)		NA	8661098	Standard	NM_005005	NM_005005	NA	Approved	B22, UQOR22, LYRM3	uc003yrg.4	Q9Y6M9	OTTHUMG00000165054	ENST00000522532.1:c.375G>A	8.37:g.125559321G>A	ENSP00000431115:p.Trp125*	NA	B2R8M6|Q9UQE8	37		.	.	.	.	.	.	.	.	.	.	G	13.71	2.318085	0.40996	.	.	ENSG00000147684	ENST00000276689;ENST00000518008;ENST00000522532;ENST00000517367	.	.	.	5.43	3.63	0.41609	.	0.060628	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.6589	10.4509	0.44522	0.0697:0.0:0.7961:0.1342	.	.	.	.	X	125;125;125;114	.	ENSP00000276689:W125X	W	+	3	0	NDUFB9	125628502	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	9.289000	0.96061	0.666000	0.31087	-0.311000	0.09066	TGG	NDUFB9-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000381608.1		+	ENST00000522532.1	Nonsense_Mutation	SNP	8 : 125559321 - 125559321 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	702	150
TMEM225	338661	broad.mit.edu	37	11	123754867	123754867	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123754867T>G	ENST00000375026.2	-	3	594	c.378A>C	c.(376-378)caA>caC	p.Q126H		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	126						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						TGGATTGACCTTGCTTCAGCT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	123	124			NA	NA	11		NA											NA				123754867		2202	4299	6501	SO:0001583	missense			AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300	338661	338661			32390	protein-coding gene	gene with protein product	PMP22 claudin domain containing, protein phosphatase 1, regulatory subunit 154				NA		Standard	NM_001013743	XM_006718832	NA	Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.378A>C	11.37:g.123754867T>G	ENSP00000364166:p.Gln126His	NA		37	CCDS31697.1	.	.	.	.	.	.	.	.	.	.	T	5.286	0.238253	0.10023	.	.	ENSG00000204300	ENST00000375026;ENST00000528595	T;T	0.69306	-0.39;-0.39	4.84	0.998	0.19857	.	0.666048	0.13298	N	0.398474	T	0.43897	0.1268	N	0.14661	0.345	0.09310	N	1	B	0.16396	0.017	B	0.22753	0.041	T	0.30880	-0.9963	10	0.49607	T	0.09	-0.9408	3.1305	0.06421	0.1383:0.0847:0.1405:0.6364	.	126	Q6GV28	TM225_HUMAN	H	126;76	ENSP00000364166:Q126H;ENSP00000431282:Q76H	ENSP00000364166:Q126H	Q	-	3	2	TMEM225	123260077	0.454000	0.25728	0.099000	0.21106	0.001000	0.01503	0.556000	0.23438	0.032000	0.15435	-1.532000	0.00920	CAA	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387260.1		-	ENST00000375026.2	Missense_Mutation	SNP	11 : 123754867 - 123754867 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	659	121
SCN11A	11280	broad.mit.edu	37	3	38888777	38888777	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38888777A>G	ENST00000302328.3	-	26	4982	c.4784T>C	c.(4783-4785)gTt>gCt	p.V1595A	SCN11A_ENST00000450244.1_Missense_Mutation_p.V1595A|SCN11A_ENST00000456224.3_Missense_Mutation_p.V1557A	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1595					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)	CATGTTGACAACAATGAGAAA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	128	128			NA	NA	3		NA											NA				38888777		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.4784T>C	3.37:g.38888777A>G	ENSP00000307599:p.Val1595Ala	NA	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	37	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.572899	0.86542	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.98717	-5.09;-5.09;-5.09	5.3	5.3	0.74995	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99336	0.9767	M	0.93507	3.425	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.98781	1.0732	10	0.87932	D	0	.	15.2886	0.73849	1.0:0.0:0.0:0.0	.	1595	Q9UI33	SCNBA_HUMAN	A	1595;1595;1557	ENSP00000307599:V1595A;ENSP00000400945:V1595A;ENSP00000416757:V1557A	ENSP00000307599:V1595A	V	-	2	0	SCN11A	38863781	1.000000	0.71417	0.772000	0.31596	0.988000	0.76386	9.317000	0.96327	2.006000	0.58801	0.362000	0.22060	GTT	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109746.4		-	ENST00000302328.3	Missense_Mutation	SNP	3 : 38888777 - 38888777 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	524	109
WDR78	79819	broad.mit.edu	37	1	67306218	67306218	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67306218C>T	ENST00000371026.3	-	9	1483	c.1428G>A	c.(1426-1428)tgG>tgA	p.W476*	WDR78_ENST00000371023.3_Nonsense_Mutation_p.W476*|WDR78_ENST00000431318.1_Nonsense_Mutation_p.W222*	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	476										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						AGGAAAAAGACCAAAGTCGTT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													197	192	194			NA	NA	1		NA											NA				67306218		2203	4300	6503	SO:0001587	stop_gained			BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763	79819	79819		WD repeat domain containing	26252	protein-coding gene	gene with protein product					NA	21953912	Standard	NM_024763	NM_207014	NA	Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.1428G>A	1.37:g.67306218C>T	ENSP00000360065:p.Trp476*	NA	A8K9W5|B5MDT3|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	37	CCDS635.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439263	0.83885	.	.	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352;ENST00000371023;ENST00000531552	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8706	18.8908	0.92403	0.0:1.0:0.0:0.0	.	.	.	.	X	476;222;242;476;98	.	ENSP00000360062:W476X	W	-	3	0	WDR78	67078806	1.000000	0.71417	1.000000	0.80357	0.304000	0.27724	6.311000	0.72835	2.794000	0.96219	0.650000	0.86243	TGG	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025404.1		-	ENST00000371026.3	Nonsense_Mutation	SNP	1 : 67306218 - 67306218 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	486	80
CCDC96	257236	broad.mit.edu	37	4	7044246	7044246	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7044246G>T	ENST00000310085.4	-	1	482	c.420C>A	c.(418-420)ttC>ttA	p.F140L	RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	140	Glu-rich.									endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						GAGAGGCCTGGAACCTGACTT	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	27	26			NA	NA	4		NA											NA				7044246		2201	4299	6500	SO:0001583	missense			AK075056	CCDS3395.1	4p16.1	2008-02-05			ENSG00000173013	ENSG00000173013	257236	257236			26900	protein-coding gene	gene with protein product					NA		Standard	NM_153376	NM_153376	NA	Approved	FLJ90575	uc003gjv.2	Q2M329	OTTHUMG00000125511	ENST00000310085.4:c.420C>A	4.37:g.7044246G>T	ENSP00000309285:p.Phe140Leu	NA	Q8N2I7	37	CCDS3395.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.898438	0.33535	.	.	ENSG00000173013	ENST00000310085	T	0.47177	0.85	3.43	-2.32	0.06745	.	.	.	.	.	T	0.24586	0.0596	N	0.19112	0.55	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.16217	-1.0410	9	0.27785	T	0.31	-0.006	2.5398	0.04722	0.2174:0.4506:0.2026:0.1294	.	140	Q2M329	CCD96_HUMAN	L	140	ENSP00000309285:F140L	ENSP00000309285:F140L	F	-	3	2	CCDC96	7095147	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.025000	0.13577	-0.314000	0.08716	-0.373000	0.07131	TTC	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000246838.1		-	ENST00000310085.4	Missense_Mutation	SNP	4 : 7044246 - 7044246 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	314	51
OLFM2	93145	broad.mit.edu	37	19	9971444	9971444	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9971444G>A	ENST00000264833.4	-	2	275	c.90C>T	c.(88-90)ggC>ggT	p.G30G		NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	30						extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						ACAGCTGCCAGCCCTCTTCTG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	25	25			NA	NA	19		NA											NA				9971444		2203	4300	6503	SO:0001819	synonymous_variant			AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088	93145	93145			17189	protein-coding gene	gene with protein product	noelin 2				NA		Standard		NM_058164	NA	Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.90C>T	19.37:g.9971444G>A		NA	Q6IMJ3|Q96FC2	37	CCDS12221.1																																																																																			OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451119.1		-	ENST00000264833.4	Silent	SNP	19 : 9971444 - 9971444 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	72	13
GLIPR1	11010	broad.mit.edu	37	12	75875790	75875790	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75875790G>A	ENST00000266659.3	+	2	552	c.351G>A	c.(349-351)tgG>tgA	p.W117*		NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	117					cellular lipid metabolic process	extracellular region|integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						TCACAAACTGGTATGACGAAA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	98	102			NA	NA	12		NA											NA				75875790		2203	4300	6503	SO:0001587	stop_gained			U16307	CCDS9011.1	12q14.1	2008-08-15	2008-08-15			ENSG00000139278	11010	11010			17001	protein-coding gene	gene with protein product		602692	GLI pathogenesis-related 1 (glioma)		NA	7607567, 8973356	Standard	NM_006851	NM_006851	NA	Approved	RTVP1, GliPR	uc001sxs.3	P48060	OTTHUMG00000169757	ENST00000266659.3:c.351G>A	12.37:g.75875790G>A	ENSP00000266659:p.Trp117*	NA	Q15409|Q969K2	37	CCDS9011.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530799	0.64860	.	.	ENSG00000139278	ENST00000266659;ENST00000456650	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2657	0.90051	0.0:0.0:1.0:0.0	.	.	.	.	X	117	.	ENSP00000266659:W117X	W	+	3	0	GLIPR1	74162057	1.000000	0.71417	0.988000	0.46212	0.016000	0.09150	7.752000	0.85141	2.756000	0.94617	0.561000	0.74099	TGG	GLIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405722.1		+	ENST00000266659.3	Nonsense_Mutation	SNP	12 : 75875790 - 75875790 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	572	99
MYO5B	4645	broad.mit.edu	37	18	47500787	47500787	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47500787G>A	ENST00000285039.7	-	10	1554	c.1255C>T	c.(1255-1257)Cac>Tac	p.H419Y		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	419	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TTGTTGATGTGCTCCACAATC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	150	147			NA	NA	18		NA											NA				47500787		2176	4264	6440	SO:0001583	missense			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306	4645	4645		Myosins / Myosin superfamily : Class V	7603	protein-coding gene	gene with protein product		606540			NA	8884266, 17462998	Standard		NM_001080467	NA	Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.1255C>T	18.37:g.47500787G>A	ENSP00000285039:p.His419Tyr	NA	B0I1R3	37	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708535	0.89018	.	.	ENSG00000167306	ENST00000285039;ENST00000356732	D	0.87256	-2.23	5.5	5.5	0.81552	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.89736	0.6801	L	0.48218	1.51	0.80722	D	1	B;B	0.25667	0.131;0.001	P;B	0.46419	0.516;0.006	D	0.84433	0.0578	10	0.21014	T	0.42	.	19.3767	0.94512	0.0:0.0:1.0:0.0	.	418;419	Q7Z7A5;Q9ULV0	.;MYO5B_HUMAN	Y	419;418	ENSP00000285039:H419Y	ENSP00000285039:H419Y	H	-	1	0	MYO5B	45754785	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.751000	0.98889	2.735000	0.93741	0.655000	0.94253	CAC	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448515.2		-	ENST00000285039.7	Missense_Mutation	SNP	18 : 47500787 - 47500787 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	434	20
C17orf85	55421	broad.mit.edu	37	17	3716516	3716516	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3716516T>G	ENST00000389005.4	-	13	1712	c.1685A>C	c.(1684-1686)aAa>aCa	p.K562T	C17orf85_ENST00000158149.3_Missense_Mutation_p.K282T	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	562							nucleotide binding			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		GTGATCCACTTTCTTCGTATT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	152	154			NA	NA	17		NA											NA				3716516		2203	4300	6503	SO:0001583	missense				CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356	55421	55421			24612	protein-coding gene	gene with protein product	ELG protein				NA	11412301	Standard	NM_018553	NM_001114118	NA	Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1685A>C	17.37:g.3716516T>G	ENSP00000373657:p.Lys562Thr	NA	B3KWG7|Q7L406|Q96FK1|Q9NXZ4	37	CCDS45578.1	.	.	.	.	.	.	.	.	.	.	T	13.18	2.159664	0.38119	.	.	ENSG00000074356	ENST00000389005;ENST00000158149	.	.	.	5.61	5.61	0.85477	.	0.189830	0.56097	D	0.000031	T	0.37433	0.1003	N	0.24115	0.695	0.43896	D	0.996521	B	0.33694	0.421	B	0.24848	0.056	T	0.33189	-0.9878	9	0.51188	T	0.08	-19.2377	14.0665	0.64834	0.0:0.0:0.0:1.0	.	562	Q53F19	CQ085_HUMAN	T	562;282	.	ENSP00000158149:K282T	K	-	2	0	C17orf85	3663265	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.725000	0.54970	2.281000	0.76405	0.533000	0.62120	AAA	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438385.1		-	ENST00000389005.4	Missense_Mutation	SNP	17 : 3716516 - 3716516 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	823	162
FAM53A	152877	broad.mit.edu	37	4	1657352	1657352	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1657352C>T	ENST00000489363.1	-	4	832	c.235G>A	c.(235-237)Gct>Act	p.A79T	FAM53A_ENST00000461064.1_Missense_Mutation_p.A79T|FAM53A_ENST00000308132.6_Missense_Mutation_p.A79T|FAM53A_ENST00000472884.2_Missense_Mutation_p.A79T			Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	79						nucleus				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			ATGGTGTGAGCGGCAGCAGAC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													7	7	7			NA	NA	4		NA											NA				1657352		1854	3738	5592	SO:0001583	missense			BC070112	CCDS33939.1, CCDS75091.1	4p16.3	2005-08-09			ENSG00000174137	ENSG00000174137	152877	152877			31860	protein-coding gene	gene with protein product					NA		Standard	NM_001013622	NM_001013622	NA	Approved	DNTNP	uc021xkl.1	Q6NSI3	OTTHUMG00000159855	ENST00000489363.1:c.235G>A	4.37:g.1657352C>T	ENSP00000419044:p.Ala79Thr	NA	Q6ZUL5	37		.	.	.	.	.	.	.	.	.	.	C	13.58	2.278835	0.40294	.	.	ENSG00000174137	ENST00000308132;ENST00000489363;ENST00000461064;ENST00000472884;ENST00000463238	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	2.87	0.913	0.19354	.	1.057190	0.07555	U	0.916117	T	0.36635	0.0974	L	0.46157	1.445	0.09310	N	1	P;D	0.58268	0.951;0.982	B;P	0.44518	0.32;0.452	T	0.20672	-1.0268	10	0.46703	T	0.11	-6.3993	5.2949	0.15747	0.5219:0.3708:0.0:0.1073	.	79;79	Q6NSI3;C9JYQ7	FA53A_HUMAN;.	T	79	ENSP00000310057:A79T;ENSP00000419044:A79T;ENSP00000418243:A79T;ENSP00000426260:A79T;ENSP00000417615:A79T	ENSP00000310057:A79T	A	-	1	0	FAM53A	1627149	0.060000	0.20803	0.001000	0.08648	0.003000	0.03518	0.705000	0.25675	-0.275000	0.09219	-0.490000	0.04691	GCT	FAM53A-001	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000357744.1		-	ENST00000489363.1	Missense_Mutation	SNP	4 : 1657352 - 1657352 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	84	21
TRPC6	7225	broad.mit.edu	37	11	101353865	101353865	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:101353865T>G	ENST00000532133.1	-	5	1327	c.1325A>C	c.(1324-1326)aAg>aCg	p.K442T	TRPC6_ENST00000360497.4_Missense_Mutation_p.K387T|TRPC6_ENST00000344327.3_Missense_Mutation_p.K442T|TRPC6_ENST00000348423.4_Missense_Mutation_p.K326T			Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	442					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TGCTACAAACTTCATGAATGG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(166;1315 1927 11094 12848 34731)							NA				0													97	88	91			NA	NA	11		NA											NA				101353865		2203	4299	6502	SO:0001583	missense			AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672	7225	7225		Voltage-gated ion channels / Transient receptor potential cation channels	12338	protein-coding gene	gene with protein product		603652	focal segmental glomerulosclerosis 2	FSGS2	NA	9925922, 16382100, 15879175	Standard	NM_004621	NM_004621	NA	Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000532133.1:c.1325A>C	11.37:g.101353865T>G	ENSP00000435574:p.Lys442Thr	NA	Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	37		.	.	.	.	.	.	.	.	.	.	T	18.41	3.618452	0.66787	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.82125	0.4969	M	0.93763	3.455	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.969;0.997	D	0.87137	0.2200	10	0.87932	D	0	-10.7074	15.6364	0.76958	0.0:0.0:0.0:1.0	.	387;326;442	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	T	442;442;326;387	ENSP00000340913:K442T;ENSP00000435574:K442T;ENSP00000343672:K326T;ENSP00000353687:K387T	ENSP00000340913:K442T	K	-	2	0	TRPC6	100859075	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.040000	0.89188	2.089000	0.63090	0.482000	0.46254	AAG	TRPC6-004	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000394771.1		-	ENST00000532133.1	Missense_Mutation	SNP	11 : 101353865 - 101353865 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	40
KIF13A	63971	broad.mit.edu	37	6	17826038	17826038	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17826038C>T	ENST00000378814.5	-	16	1746	c.1747G>A	c.(1747-1749)Gca>Aca	p.A583T	KIF13A_ENST00000378826.2_Missense_Mutation_p.A583T|KIF13A_ENST00000378816.5_Missense_Mutation_p.A583T|KIF13A_ENST00000259711.6_Missense_Mutation_p.A583T|KIF13A_ENST00000378843.2_Missense_Mutation_p.A583T	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	583					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TCCATCTGTGCAAATTCATAG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	107	107			NA	NA	6		NA											NA				17826038		1922	4132	6054	SO:0001583	missense			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177	63971	63971		Kinesins	14566	protein-coding gene	gene with protein product		605433			NA	11106728	Standard		NM_022113	NA	Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000378814.5:c.1747G>A	6.37:g.17826038C>T	ENSP00000368091:p.Ala583Thr	NA	A0JP21|A0JP22|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	37	CCDS47380.1	.	.	.	.	.	.	.	.	.	.	C	36	5.610702	0.96637	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.89068	0.6610	M	0.86268	2.805	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.991;1.0;1.0;0.998	D;D;D;D;D	0.80764	0.994;0.931;0.982;0.988;0.937	D	0.89111	0.3496	10	0.87932	D	0	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	554;583;583;583;583	E7ER65;Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;.;KI13A_HUMAN;.	T	583	ENSP00000368091:A583T;ENSP00000259711:A583T;ENSP00000368103:A583T;ENSP00000368120:A583T;ENSP00000368093:A583T	ENSP00000259711:A583T	A	-	1	0	KIF13A	17934017	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	7.432000	0.80349	2.894000	0.99253	0.655000	0.94253	GCA	KIF13A-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367778.1		-	ENST00000378814.5	Missense_Mutation	SNP	6 : 17826038 - 17826038 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	519	103
NOTCH2	4853	broad.mit.edu	37	1	120506274	120506274	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120506274C>A	ENST00000256646.2	-	11	2057	c.1838G>T	c.(1837-1839)aGc>aTc	p.S613I		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	613	EGF-like 16; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCAAGGGCTGCTGTAACATTC	0.527		NA	N, F, Mis		marginal zone lymphoma, DLBCL				Alagille Syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													247	210	223			NA	NA	1		NA											NA				120506274		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250	4853	4853		Ankyrin repeat domain containing	7882	protein-coding gene	gene with protein product		600275	Notch (Drosophila) homolog 2, Notch homolog 2 (Drosophila)		NA	7698746	Standard	NM_024408	NM_001200001	NA	Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.1838G>T	1.37:g.120506274C>A	ENSP00000256646:p.Ser613Ile	NA	Q5T3X7|Q99734|Q9H240	37	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779348	0.90195	.	.	ENSG00000134250	ENST00000256646;ENST00000539617	T	0.09630	2.96	5.73	5.73	0.89815	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.45126	U	0.000381	T	0.37679	0.1012	M	0.90977	3.165	0.80722	D	1	P;P;D	0.89917	0.786;0.927;1.0	P;P;D	0.91635	0.595;0.739;0.999	T	0.40701	-0.9549	10	0.62326	D	0.03	.	19.248	0.93909	0.0:1.0:0.0:0.0	.	574;613;613	D2WEZ3;Q6IQ50;Q04721	.;.;NOTC2_HUMAN	I	613;574	ENSP00000256646:S613I	ENSP00000256646:S613I	S	-	2	0	NOTCH2	120307797	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	7.729000	0.84864	2.861000	0.98227	0.655000	0.94253	AGC	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033679.1		-	ENST00000256646.2	Missense_Mutation	SNP	1 : 120506274 - 120506274 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1015	99
PDGFC	56034	broad.mit.edu	37	4	157689048	157689048	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:157689048G>A	ENST00000502773.1	-	5	1288	c.798C>T	c.(796-798)acC>acT	p.T266T	PDGFC_ENST00000422544.2_Intron|PDGFC_ENST00000542208.1_Silent_p.T111T|PDGFC_ENST00000541126.1_Silent_p.T103T|PDGFC_ENST00000504672.1_Intron	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	266					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		AAATGGTATCGGTTCTCTTTA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													184	168	173			NA	NA	4		NA											NA				157689048		2203	4299	6502	SO:0001819	synonymous_variant			AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431	56034	56034			8801	protein-coding gene	gene with protein product		608452			NA	10858496, 10858548	Standard		NM_016205	NA	Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.798C>T	4.37:g.157689048G>A		NA	B9EGR8|Q4W5M9|Q9UL22	37	CCDS3795.1																																																																																			PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366123.1		-	ENST00000502773.1	Silent	SNP	4 : 157689048 - 157689048 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	579	19
ZNF224	7767	broad.mit.edu	37	19	44612103	44612103	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44612103A>C	ENST00000336976.6	+	6	2044	c.1790A>C	c.(1789-1791)aAa>aCa	p.K597T	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	597					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				AAGCCATACAAATGTGATGAG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	88	87			NA	NA	19		NA											NA				44612103		2203	4300	6503	SO:0001583	missense			AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680	7767	7767		Zinc fingers, C2H2-type, -	13017	protein-coding gene	gene with protein product		194555	zinc finger protein 255, zinc finger protein 27	ZNF255, ZNF27	NA		Standard	NM_013398	NM_013398	NA	Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.1790A>C	19.37:g.44612103A>C	ENSP00000337368:p.Lys597Thr	NA	A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	37	CCDS33046.1	.	.	.	.	.	.	.	.	.	.	a	13.25	2.180398	0.38511	.	.	ENSG00000186019	ENST00000336976	T	0.18810	2.19	2.93	0.748	0.18376	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14056	0.0340	L	0.52266	1.64	0.09310	N	1	P	0.38729	0.644	B	0.30572	0.117	T	0.16689	-1.0394	9	0.41790	T	0.15	.	3.5138	0.07717	0.5603:0.1998:0.2399:0.0	.	597	Q9NZL3	ZN224_HUMAN	T	597	ENSP00000337368:K597T	ENSP00000337368:K597T	K	+	2	0	ZNF224	49303943	0.000000	0.05858	0.004000	0.12327	0.696000	0.40369	-2.518000	0.00953	-0.024000	0.13941	0.482000	0.46254	AAA	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460477.1		+	ENST00000336976.6	Missense_Mutation	SNP	19 : 44612103 - 44612103 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	495	105
DHX34	9704	broad.mit.edu	37	19	47879730	47879730	+	Missense_Mutation	SNP	G	G	A	rs143455169		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47879730G>A	ENST00000328771.4	+	12	2861	c.2512G>A	c.(2512-2514)Gtg>Atg	p.V838M		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	838						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GCAGGGCGCCGTGCTGCACCC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/VAL	1,4397	2.1+/-5.4	0,1,2198	25	25	25		2512	5.4	1	19	dbSNP_134	25	0,8600		0,0,4300	no	missense	DHX34	NM_014681.5	21	0,1,6498	AA,AG,GG	NA	0.0,0.0227,0.0077	benign	838/1144	47879730	1,12997	2199	4300	6499	SO:0001583	missense			D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815	9704	9704		DEAH-boxes	16719	protein-coding gene	gene with protein product		615475	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34	DDX34	NA	10708517, 8590280	Standard	NM_014681	NM_014681	NA	Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.2512G>A	19.37:g.47879730G>A	ENSP00000331907:p.Val838Met	NA	B4DMY8	37	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246950	0.80024	2.27E-4	0.0	ENSG00000134815	ENST00000328771	T	0.03242	4.0	5.38	5.38	0.77491	Domain of unknown function DUF1605 (1);	0.000000	0.53938	D	0.000054	T	0.15046	0.0363	M	0.79475	2.455	0.58432	D	0.999998	D	0.63046	0.992	P	0.57425	0.82	T	0.00191	-1.1936	10	0.48119	T	0.1	-29.2816	16.0195	0.80472	0.0:0.0:1.0:0.0	.	838	Q14147	DHX34_HUMAN	M	838	ENSP00000331907:V838M	ENSP00000331907:V838M	V	+	1	0	DHX34	52571528	1.000000	0.71417	0.951000	0.38953	0.655000	0.38815	8.165000	0.89663	2.514000	0.84764	0.591000	0.81541	GTG	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000314313.3		+	ENST00000328771.4	Missense_Mutation	SNP	19 : 47879730 - 47879730 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	104	21
GNB4	59345	broad.mit.edu	37	3	179123034	179123034	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179123034G>A	ENST00000232564.3	-	9	1146	c.860C>T	c.(859-861)gCt>gTt	p.A287V	GNB4_ENST00000468623.1_Missense_Mutation_p.A287V	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	287					cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			ATCGTAACCAGCCAACAAGAG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(105;1405 1491 7265 20440 33721)							NA				0													116	108	110			NA	NA	3		NA											NA				179123034		2203	4300	6503	SO:0001583	missense			AF300648	CCDS3230.1	3q27.1	2013-01-10			ENSG00000114450	ENSG00000114450	59345	59345		WD repeat domain containing	20731	protein-coding gene	gene with protein product		610863			NA	10644457, 11842130	Standard	NM_021629	NM_021629	NA	Approved		uc003fjv.4	Q9HAV0	OTTHUMG00000157440	ENST00000232564.3:c.860C>T	3.37:g.179123034G>A	ENSP00000232564:p.Ala287Val	NA	B3KMH5|D3DNR8	37	CCDS3230.1	.	.	.	.	.	.	.	.	.	.	G	35	5.497553	0.96355	.	.	ENSG00000114450	ENST00000232564;ENST00000468623	T;T	0.59906	0.23;0.23	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.094329	0.64402	N	0.000001	T	0.75686	0.3883	M	0.85041	2.73	0.80722	D	1	D	0.58620	0.983	P	0.55545	0.778	T	0.79722	-0.1684	10	0.66056	D	0.02	-28.153	19.5074	0.95125	0.0:0.0:1.0:0.0	.	287	Q9HAV0	GBB4_HUMAN	V	287	ENSP00000232564:A287V;ENSP00000419693:A287V	ENSP00000232564:A287V	A	-	2	0	GNB4	180605728	1.000000	0.71417	0.999000	0.59377	0.818000	0.46254	9.721000	0.98766	2.678000	0.91216	0.655000	0.94253	GCT	GNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258218.1		-	ENST00000232564.3	Missense_Mutation	SNP	3 : 179123034 - 179123034 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	538	92
SBF2	81846	broad.mit.edu	37	11	9874236	9874236	+	Missense_Mutation	SNP	G	G	A	rs143887793		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9874236G>A	ENST00000256190.8	-	21	2734	c.2597C>T	c.(2596-2598)cCg>cTg	p.P866L	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	866					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CTGAATAGGCGGAAGTCTTCT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	LEU/PRO	0,4402		0,0,2201	198	169	179		2597	5.1	1	11	dbSNP_134	179	1,8587	1.2+/-3.3	0,1,4293	no	missense	SBF2	NM_030962.3	98	0,1,6494	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	866/1850	9874236	1,12989	2201	4294	6495	SO:0001583	missense			AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812	81846	81846		Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins, DENN/MADD domain containing, Pleckstrin homology (PH) domain containing	2135	protein-coding gene	gene with protein product	myotubularin related 13	607697	Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding), DENN/MADD domain containing 7B	CMT4B2	NA	10644431	Standard	NM_030962	NM_030962	NA	Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.2597C>T	11.37:g.9874236G>A	ENSP00000256190:p.Pro866Leu	NA	Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	37	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604129	0.87157	0.0	1.16E-4	ENSG00000133812	ENST00000256190	D	0.89552	-2.53	6.03	5.12	0.69794	.	0.046259	0.85682	D	0.000000	D	0.92996	0.7771	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.93548	0.6884	10	0.66056	D	0.02	.	15.3416	0.74303	0.0665:0.0:0.9335:0.0	.	866	Q86WG5	MTMRD_HUMAN	L	866	ENSP00000256190:P866L	ENSP00000256190:P866L	P	-	2	0	SBF2	9830812	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.813000	0.99286	1.569000	0.49696	0.655000	0.94253	CCG	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386911.2		-	ENST00000256190.8	Missense_Mutation	SNP	11 : 9874236 - 9874236 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	759	143
IQSEC3	440073	broad.mit.edu	37	12	271138	271138	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:271138C>A	ENST00000538872.1	+	8	2608	c.2490C>A	c.(2488-2490)atC>atA	p.I830I	IQSEC3_ENST00000382841.2_Silent_p.I527I|IQSEC3_ENST00000326261.4_Silent_p.I830I			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	830	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TGGTAGGCATCTATGAGAGGA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	78	91			NA	NA	12		NA											NA				271138		2203	4299	6502	SO:0001819	synonymous_variant			AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645	440073	440073			29193	protein-coding gene	gene with protein product		612118			NA	10470851	Standard	XM_495902	NM_001170738	NA	Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2490C>A	12.37:g.271138C>A		NA	A6NIF2|A6NKV9|Q8TB43	37	CCDS53728.1																																																																																			IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397382.3		+	ENST00000538872.1	Silent	SNP	12 : 271138 - 271138 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	140	28
RTN3	10313	broad.mit.edu	37	11	63487781	63487781	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63487781C>T	ENST00000377819.5	+	3	1961	c.1807C>T	c.(1807-1809)Cct>Tct	p.P603S	RTN3_ENST00000339997.4_Missense_Mutation_p.P584S|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.P491S|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	603					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TCCTGAAAAGCCTATTACTAC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	111	109			NA	NA	11		NA											NA				63487781		2201	4298	6499	SO:0001583	missense			AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318	10313	10313			10469	protein-coding gene	gene with protein product	neuroendocrine-specific protein-like 2, NSP-like protein II, isoforme III, ASY interacting protein, homolog of ASY protein	604249			NA	10331947	Standard	NM_006054	NM_006054	NA	Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.1807C>T	11.37:g.63487781C>T	ENSP00000367050:p.Pro603Ser	NA	B3KQS2|B7Z308|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	37	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.389613	0.25118	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.22336	1.97;1.97;1.96	5.77	3.86	0.44501	.	2.195500	0.01661	N	0.025135	T	0.14184	0.0343	N	0.14661	0.345	0.19775	N	0.99995	B;B;B	0.32753	0.383;0.264;0.383	B;B;B	0.26094	0.066;0.03;0.066	T	0.17258	-1.0375	10	0.30078	T	0.28	-1.5901	8.5939	0.33703	0.0:0.7584:0.1569:0.0846	.	491;603;584	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	S	603;584;491	ENSP00000367050:P603S;ENSP00000344106:P584S;ENSP00000442733:P491S	ENSP00000344106:P584S	P	+	1	0	RTN3	63244357	0.000000	0.05858	0.295000	0.24960	0.138000	0.21146	0.426000	0.21363	1.549000	0.49425	0.655000	0.94253	CCT	RTN3-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397846.1		+	ENST00000377819.5	Missense_Mutation	SNP	11 : 63487781 - 63487781 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	572	99
BCAR1	9564	broad.mit.edu	37	16	75267776	75267776	+	Missense_Mutation	SNP	G	G	A	rs142603608		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75267776G>A	ENST00000418647.3	-	7	2489	c.2206C>T	c.(2206-2208)Cgg>Tgg	p.R736W	BCAR1_ENST00000535626.2_Missense_Mutation_p.R542W|BCAR1_ENST00000393422.2_Missense_Mutation_p.R708W|BCAR1_ENST00000538440.2_Missense_Mutation_p.R690W|BCAR1_ENST00000393420.6_Missense_Mutation_p.R708W|BCAR1_ENST00000420641.3_Missense_Mutation_p.R708W|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000546196.1_Missense_Mutation_p.R661W|BCAR1_ENST00000542031.2_Missense_Mutation_p.R688W|BCAR1_ENST00000162330.5_Missense_Mutation_p.R690W	NM_001170714.1	NP_001164185.1	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	690					actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTGCCCTGCCGCGTGATGCTG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4396		0,0,2198	39	35	37		2206,2122,2122,2122,2068,2062,1624,1438,2068	4.4	1	16	dbSNP_134	37	2,8596	2.2+/-6.3	0,2,4297	yes	missense,missense,missense,missense,missense,missense,missense,missense,missense	BCAR1	NM_001170714.1,NM_001170715.1,NM_001170716.1,NM_001170717.1,NM_001170718.1,NM_001170719.1,NM_001170720.1,NM_001170721.1,NM_014567.3	101,101,101,101,101,101,101,101,101	0,2,6495	AA,AG,GG	NA	0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	736/917,708/889,708/889,708/889,690/871,688/869,542/723,480/661,690/871	75267776	2,12992	2198	4299	6497	SO:0001583	missense			AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820	9564	9564		Cas scaffolding proteins	971	protein-coding gene	gene with protein product	Crk-associated substrate, Cas scaffolding protein family member 1	602941			NA	8413311, 10639512	Standard	NM_014567	NM_001170714	NA	Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000418647.3:c.2206C>T	16.37:g.75267776G>A	ENSP00000391669:p.Arg736Trp	NA		37	CCDS54040.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994052	0.74703	0.0	2.33E-4	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79	5.34	4.37	0.52481	CAS family, DUF3513 (1);	0.125811	0.50627	D	0.000115	T	0.41213	0.1149	L	0.43152	1.355	0.40525	D	0.980876	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	0.85130	0.997;0.99;0.997;0.995;0.995;0.997;0.985;0.997;0.994	T	0.33979	-0.9847	10	0.72032	D	0.01	-47.822	11.3366	0.49507	0.0:0.0:0.67:0.33	.	708;542;736;688;708;708;690;690;480	B4DIW5;F5GXV6;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945;B3KWE2	.;.;.;.;.;.;.;BCAR1_HUMAN;.	W	690;708;708;690;736;542;708;688;661	ENSP00000162330:R690W;ENSP00000377074:R708W;ENSP00000392708:R708W;ENSP00000443841:R690W;ENSP00000391669:R736W;ENSP00000440370:R542W;ENSP00000377072:R708W;ENSP00000440415:R688W;ENSP00000442161:R661W	ENSP00000162330:R690W	R	-	1	2	BCAR1	73825277	0.987000	0.35691	1.000000	0.80357	0.839000	0.47603	1.029000	0.30140	1.368000	0.46115	0.655000	0.94253	CGG	BCAR1-005	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434666.1		-	ENST00000418647.3	Missense_Mutation	SNP	16 : 75267776 - 75267776 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	91	13
CCDC106	29903	broad.mit.edu	37	19	56163952	56163952	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56163952A>C	ENST00000586790.1	+	5	1587	c.683A>C	c.(682-684)gAg>gCg	p.E228A	CCDC106_ENST00000591578.1_Missense_Mutation_p.E228A|CCDC106_ENST00000588740.1_Missense_Mutation_p.E228A|CCDC106_ENST00000308964.3_Missense_Mutation_p.E228A|CCDC106_ENST00000591241.1_Missense_Mutation_p.E193A			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	228						nucleus				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GTGGCCCCCGAGAAGCTGGCC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	59	56			NA	NA	19		NA											NA				56163952		2203	4300	6503	SO:0001583	missense			AF054984	CCDS33118.1	19q13.42	2013-09-20			ENSG00000173581	ENSG00000173581	29903	29903			30181	protein-coding gene	gene with protein product		613478			NA	8619474, 9110174	Standard	NM_013301	XM_005258827	NA	Approved	HSU79303	uc002qlr.3	Q9BWC9	OTTHUMG00000180907	ENST00000586790.1:c.683A>C	19.37:g.56163952A>C	ENSP00000465757:p.Glu228Ala	NA	B3KUF9|D3K183|Q99786	37	CCDS33118.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.124616	0.77436	.	.	ENSG00000173581	ENST00000308964	.	.	.	3.48	3.48	0.39840	.	0.000000	0.85682	D	0.000000	T	0.68732	0.3033	L	0.54323	1.7	0.58432	D	0.999995	D	0.67145	0.996	D	0.79784	0.993	T	0.71286	-0.4638	9	0.66056	D	0.02	0.0717	11.4314	0.50043	1.0:0.0:0.0:0.0	.	228	Q9BWC9	CC106_HUMAN	A	228	.	ENSP00000309681:E228A	E	+	2	0	CCDC106	60855764	1.000000	0.71417	0.957000	0.39632	0.872000	0.50106	5.552000	0.67281	1.584000	0.49913	0.454000	0.30748	GAG	CCDC106-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453593.1		+	ENST00000586790.1	Missense_Mutation	SNP	19 : 56163952 - 56163952 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	498	97
ZNF304	57343	broad.mit.edu	37	19	57868604	57868604	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57868604T>C	ENST00000282286.5	+	3	1540	c.1367T>C	c.(1366-1368)tTt>tCt	p.F456S	ZNF304_ENST00000391705.3_Missense_Mutation_p.F456S|ZNF304_ENST00000598744.1_Missense_Mutation_p.F414S|ZNF304_ENST00000443917.2_Missense_Mutation_p.F503S			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GGGAAGGCCTTTGGCTGCAAA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	80	80			NA	NA	19		NA											NA				57868604		2203	4300	6503	SO:0001583	missense			AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845	57343	57343		Zinc fingers, C2H2-type, -	13505	protein-coding gene	gene with protein product		613840			NA		Standard		XM_005259090	NA	Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.1367T>C	19.37:g.57868604T>C	ENSP00000282286:p.Phe456Ser	NA		37	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.145511	0.57044	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.47869	0.83;0.83;0.83	3.77	1.58	0.23477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.61677	0.2366	M	0.86740	2.835	0.26755	N	0.970128	D;D	0.63880	0.993;0.992	P;P	0.55999	0.789;0.638	T	0.53781	-0.8390	9	0.72032	D	0.01	.	5.4267	0.16429	0.1544:0.0917:0.0:0.7539	.	456;503	Q9HCX3;E7EQD3	ZN304_HUMAN;.	S	456;456;503	ENSP00000282286:F456S;ENSP00000375586:F456S;ENSP00000401642:F503S	ENSP00000282286:F456S	F	+	2	0	ZNF304	62560416	1.000000	0.71417	0.025000	0.17156	0.950000	0.60333	7.141000	0.77330	0.255000	0.21593	0.528000	0.53228	TTT	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465785.1		+	ENST00000282286.5	Missense_Mutation	SNP	19 : 57868604 - 57868604 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	528	86
LYPD4	147719	broad.mit.edu	37	19	42343377	42343377	+	Translation_Start_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42343377C>A	ENST00000330743.3	-	0	1194				LYPD4_ENST00000601246.1_De_novo_Start_OutOfFrame	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	NA						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						TGTCTGGGTCCTGGGTGCTAG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	94	96			NA	NA	19		NA											NA				42343377		2203	4300	6503					AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111	147719	147719			28659	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_173506	XM_005278383	NA	Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.-18G>T	19.37:g.42343377C>A		NA	Q8IYW0	37	CCDS12587.1																																																																																			LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463039.1		-	ENST00000330743.3	De_novo_Start_OutOfFrame	SNP	19 : 42343377 - 42343377 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	69
ABCA1	19	broad.mit.edu	37	9	107591298	107591298	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107591298G>A	ENST00000374736.3	-	15	2408	c.2014C>T	c.(2014-2016)Cgg>Tgg	p.R672W	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	672					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCCATGATCCGCATGGTCTCT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	114	125			NA	NA	9		NA											NA				107591298		2203	4300	6503	SO:0001583	missense			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029	19	19		ATP binding cassette transporters / subfamily A	29	protein-coding gene	gene with protein product	Tangier disease	600046		ABC1, HDLDT1	NA	8088782, 10431236, 10431237, 10431238	Standard	NM_005502	NM_005502	NA	Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.2014C>T	9.37:g.107591298G>A	ENSP00000363868:p.Arg672Trp	NA	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	37	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211998	0.79240	.	.	ENSG00000165029	ENST00000374736	D	0.84660	-1.88	6.02	4.03	0.46877	.	0.000000	0.85682	D	0.000000	D	0.92990	0.7769	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94063	0.7328	10	0.87932	D	0	.	12.6248	0.56623	0.0:0.0:0.4481:0.5519	.	672	O95477	ABCA1_HUMAN	W	672	ENSP00000363868:R672W	ENSP00000363868:R672W	R	-	1	2	ABCA1	106631119	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.208000	0.51114	1.549000	0.49425	0.655000	0.94253	CGG	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053491.1		-	ENST00000374736.3	Missense_Mutation	SNP	9 : 107591298 - 107591298 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	311	57
TRANK1	9881	broad.mit.edu	37	3	36897035	36897035	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36897035C>A	ENST00000428977.2	-	2	2671	c.2396G>T	c.(2395-2397)aGc>aTc	p.S799I	TRANK1_ENST00000429976.2_Missense_Mutation_p.S1349I|TRANK1_ENST00000301807.6_Missense_Mutation_p.S799I			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1349					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACTGAAGAGGCTGTAGATCTC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	93	92			NA	NA	3		NA											NA				36897035		1911	4113	6024	SO:0001583	missense			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016	9881	9881		Ankyrin repeat domain containing, Tetratricopeptide (TTC) repeat domain containing	29011	protein-coding gene	gene with protein product	lupus brain antigen 1, KIAA0342				NA	9205841	Standard	NM_014831	NM_014831	NA	Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000428977.2:c.2396G>T	3.37:g.36897035C>A	ENSP00000416826:p.Ser799Ile	NA	Q8N8K0	37		.	.	.	.	.	.	.	.	.	.	C	4.429	0.079359	0.08533	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	D;D;D	0.81996	-1.56;-1.56;-1.56	5.46	-1.71	0.08133	.	1.536190	0.03332	N	0.193583	T	0.74741	0.3756	N	0.24115	0.695	0.09310	N	1	B	0.32939	0.391	B	0.38428	0.273	T	0.64508	-0.6391	10	0.46703	T	0.11	.	7.0783	0.25217	0.0:0.2959:0.1271:0.577	.	1349	O15050	TRNK1_HUMAN	I	799;1349;799	ENSP00000416826:S799I;ENSP00000416168:S1349I;ENSP00000301807:S799I	ENSP00000301807:S799I	S	-	2	0	TRANK1	36872039	0.000000	0.05858	0.000000	0.03702	0.128000	0.20619	-1.412000	0.02476	-0.030000	0.13804	0.561000	0.74099	AGC	TRANK1-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000369655.1		-	ENST00000428977.2	Missense_Mutation	SNP	3 : 36897035 - 36897035 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	751	124
C6	729	broad.mit.edu	37	5	41203349	41203349	+	Translation_Start_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41203349G>T	ENST00000263413.3	-	0	248				C6_ENST00000337836.5_De_novo_Start_OutOfFrame	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	NA					complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AGAGCCTCCAGGCCCTAAAAT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	81	82			NA	NA	5		NA											NA				41203349		2203	4300	6503					J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537	729	729		Complement system	1339	protein-coding gene	gene with protein product		217050			NA		Standard		NM_001115131	NA	Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.-17C>A	5.37:g.41203349G>T		NA		37	CCDS3936.1																																																																																			C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000211592.1		-	ENST00000263413.3	De_novo_Start_OutOfFrame	SNP	5 : 41203349 - 41203349 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	327	34
GRM5	2915	broad.mit.edu	37	11	88300442	88300442	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88300442A>C	ENST00000305447.4	-	7	2558	c.2409T>G	c.(2407-2409)tgT>tgG	p.C803W	GRM5_ENST00000393297.1_Missense_Mutation_p.C803W|GRM5_ENST00000418177.2_Missense_Mutation_p.C803W|GRM5_ENST00000305432.5_Missense_Mutation_p.C803W|GRM5_ENST00000455756.2_Missense_Mutation_p.C803W	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	803					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TGACCGAGAAACACATGGTGA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	125	132			NA	NA	11		NA											NA				88300442		2201	4299	6500	SO:0001583	missense			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959	2915	2915		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4597	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 86	604102			NA	7908515	Standard	NM_000842	NM_001143831	NA	Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2409T>G	11.37:g.88300442A>C	ENSP00000306138:p.Cys803Trp	NA		37	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	A	15.64	2.892150	0.52014	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41	5.58	-0.931	0.10438	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93265	0.7854	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.91364	0.5114	9	.	.	.	.	10.6791	0.45804	0.5453:0.0:0.4547:0.0	.	803;803	P41594-2;P41594	.;GRM5_HUMAN	W	803	ENSP00000402912:C803W;ENSP00000405690:C803W;ENSP00000305905:C803W;ENSP00000306138:C803W;ENSP00000376975:C803W	.	C	-	3	2	GRM5	87940090	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	2.133000	0.42093	-0.165000	0.10908	0.459000	0.35465	TGT	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000259226.1		-	ENST00000305447.4	Missense_Mutation	SNP	11 : 88300442 - 88300442 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	519	92
ITGB8	3696	broad.mit.edu	37	7	20418715	20418715	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20418715A>G	ENST00000222573.4	+	4	1114	c.430A>G	c.(430-432)Aaa>Gaa	p.K144E	ITGB8_ENST00000537992.1_Missense_Mutation_p.K9E	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	NA					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TCCTCTGAAGAAATATCCTGT	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	81	77			NA	NA	7		NA											NA				20418715		2193	4298	6491	SO:0001583	missense				CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855	3696	3696		Integrins	6163	protein-coding gene	gene with protein product		604160			NA		Standard	NM_002214	XM_005249751	NA	Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.430A>G	7.37:g.20418715A>G	ENSP00000222573:p.Lys144Glu	NA	A4D133	37	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.785427	0.49997	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.91996	-2.95;-2.95	5.42	4.25	0.50352	Integrin beta subunit, N-terminal (2);	0.067674	0.64402	D	0.000011	D	0.85423	0.5693	N	0.17082	0.46	0.36197	D	0.850466	B;B	0.27286	0.034;0.174	B;B	0.29942	0.068;0.109	D	0.83988	0.0336	10	0.41790	T	0.15	-20.749	12.8016	0.57588	0.863:0.137:0.0:0.0	.	144;144	P26012;Q9BUG9	ITB8_HUMAN;.	E	9;144	ENSP00000441561:K9E;ENSP00000222573:K144E	ENSP00000222573:K144E	K	+	1	0	ITGB8	20385240	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.942000	0.49018	0.972000	0.38314	0.528000	0.53228	AAA	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059915.3		+	ENST00000222573.4	Missense_Mutation	SNP	7 : 20418715 - 20418715 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	448	92
ANO9	338440	broad.mit.edu	37	11	418966	418966	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:418966T>C	ENST00000332826.6	-	21	2042	c.1958A>G	c.(1957-1959)cAc>cGc	p.H653R		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	653						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						GGACAGGCTGTGGTTGACGTA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	141	148			NA	NA	11		NA											NA				418966		2203	4300	6503	SO:0001583	missense			U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101	338440	338440		Ion channels / Chloride channels : Calcium activated : Anoctamins	20679	protein-coding gene	gene with protein product			tumor protein p53 inducible protein 5, transmembrane protein 16J	TP53I5, TMEM16J	NA	9305847, 24692353	Standard	NM_001012302	NM_001012302	NA	Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.1958A>G	11.37:g.418966T>C	ENSP00000332788:p.His653Arg	NA	B3KUC4|B4E134|Q8TEN4	37	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	t	17.05	3.289423	0.59976	.	.	ENSG00000185101	ENST00000332826	T	0.62941	-0.01	4.44	3.3	0.37823	.	0.402097	0.25164	N	0.032656	T	0.71913	0.3396	M	0.78456	2.415	0.36470	D	0.867201	P;D	0.67145	0.929;0.996	P;P	0.60345	0.503;0.873	T	0.74402	-0.3677	10	0.42905	T	0.14	.	7.4028	0.26973	0.0:0.1758:0.0:0.8242	.	354;653	A1A5B4-2;A1A5B4	.;ANO9_HUMAN	R	653	ENSP00000332788:H653R	ENSP00000332788:H653R	H	-	2	0	ANO9	408966	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	4.075000	0.57584	0.684000	0.31448	0.391000	0.25812	CAC	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384116.1		-	ENST00000332826.6	Missense_Mutation	SNP	11 : 418966 - 418966 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	682	149
OSBPL9	114883	broad.mit.edu	37	1	52237761	52237761	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52237761G>A	ENST00000371714.1	+	15	1419	c.919G>A	c.(919-921)Gtc>Atc	p.V307I	OSBPL9_ENST00000531828.1_Missense_Mutation_p.V155I|OSBPL9_ENST00000435686.2_Missense_Mutation_p.V155I|OSBPL9_ENST00000428468.1_Missense_Mutation_p.V320I|OSBPL9_ENST00000447887.1_Missense_Mutation_p.V330I|OSBPL9_ENST00000453295.1_Missense_Mutation_p.V303I|OSBPL9_ENST00000530544.1_Missense_Mutation_p.V239I|OSBPL9_ENST00000486942.1_Missense_Mutation_p.V142I|OSBPL9_ENST00000462759.1_Missense_Mutation_p.V142I|OSBPL9_ENST00000337809.4_Missense_Mutation_p.V325I|OSBPL9_ENST00000371710.3_Missense_Mutation_p.V338I|OSBPL9_ENST00000361556.5_Missense_Mutation_p.V210I			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	320					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						ATCTGCCTCAGTCCTGACACA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	89	91			NA	NA	1		NA											NA				52237761		2203	4300	6503	SO:0001583	missense			AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859	114883	114883		Oxysterol binding proteins, Pleckstrin homology (PH) domain containing	16386	protein-coding gene	gene with protein product		606737			NA		Standard		NM_148904	NA	Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000371714.1:c.919G>A	1.37:g.52237761G>A	ENSP00000360779:p.Val307Ile	NA	B1AKJ8|D3DQ31|Q5TFC0|Q6IA67|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	37	CCDS55598.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169656	0.38315	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000531828;ENST00000361556;ENST00000462759;ENST00000486942	T;T;T;T;T;T;T;T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42	5.04	5.04	0.67666	.	0.199297	0.43416	D	0.000570	T	0.15478	0.0373	L	0.40543	1.245	0.32136	N	0.586092	B;B;B;B;B	0.11235	0.0;0.004;0.003;0.001;0.002	B;B;B;B;B	0.11329	0.002;0.006;0.004;0.002;0.002	T	0.03875	-1.0996	10	0.35671	T	0.21	-9.6826	12.9341	0.58303	0.0771:0.0:0.9228:0.0	.	303;210;336;320;325	Q86YQ3;Q96SU4-3;B1AKJ7;Q96SU4;B1AKJ6	.;.;.;OSBL9_HUMAN;.	I	307;338;325;330;155;320;303;239;155;210;142;142	ENSP00000360779:V307I;ENSP00000360775:V338I;ENSP00000337265:V325I;ENSP00000412733:V330I;ENSP00000402646:V155I;ENSP00000407168:V320I;ENSP00000413263:V303I;ENSP00000433675:V239I;ENSP00000433083:V155I;ENSP00000354970:V210I;ENSP00000433279:V142I;ENSP00000431980:V142I	ENSP00000337265:V325I	V	+	1	0	OSBPL9	52010349	1.000000	0.71417	0.996000	0.52242	0.829000	0.46940	4.065000	0.57513	2.621000	0.88768	0.655000	0.94253	GTC	OSBPL9-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022581.4		+	ENST00000371714.1	Missense_Mutation	SNP	1 : 52237761 - 52237761 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	203	45
KBTBD2	25948	broad.mit.edu	37	7	32910180	32910180	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:32910180G>A	ENST00000304056.4	-	4	1348	c.649C>T	c.(649-651)Ctt>Ttt	p.L217F	AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	217										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			ATTTGGCTAAGAACAGAAGAC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	104	105			NA	NA	7		NA											NA				32910180		2203	4300	6503	SO:0001583	missense			AB040922	CCDS34614.1	7p14.3	2013-01-08	2003-12-12	2003-12-12	ENSG00000170852	ENSG00000170852	25948	25948		BTB/POZ domain containing	21751	protein-coding gene	gene with protein product			BTB and kelch domain containing 1	BKLHD1	NA	10819331	Standard	XM_291224	NM_015483	NA	Approved	DKFZP566C134	uc003tdb.2	Q8IY47	OTTHUMG00000152984	ENST00000304056.4:c.649C>T	7.37:g.32910180G>A	ENSP00000302586:p.Leu217Phe	NA	A8K9T7|Q86Y62|Q9P239|Q9UFM7|Q9Y382	37	CCDS34614.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.485055	0.26598	.	.	ENSG00000170852	ENST00000304056;ENST00000537125	T	0.77489	-1.1	5.72	5.72	0.89469	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.85831	0.5788	L	0.52011	1.625	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.82967	-0.0194	10	0.36615	T	0.2	.	20.244	0.98389	0.0:0.0:1.0:0.0	.	217	Q8IY47	KBTB2_HUMAN	F	217;24	ENSP00000302586:L217F	ENSP00000302586:L217F	L	-	1	0	KBTBD2	32876705	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.813000	0.99286	2.865000	0.98341	0.655000	0.94253	CTT	KBTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328890.1		-	ENST00000304056.4	Missense_Mutation	SNP	7 : 32910180 - 32910180 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	418	34
UBN1	29855	broad.mit.edu	37	16	4902975	4902975	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4902975G>A	ENST00000396658.4	+	1	760	c.57G>A	c.(55-57)gcG>gcA	p.A19A	UBN1_ENST00000545171.1_Silent_p.A19A|UBN1_ENST00000590769.1_Silent_p.A19A|UBN1_ENST00000262376.6_Silent_p.A19A	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	19	Sufficient for interaction with HIRA.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TGAATCCTGCGTTTTTGAAGA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	73	73			NA	NA	16		NA											NA				4902975		2197	4300	6497	SO:0001819	synonymous_variant			AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900	29855	29855			12506	protein-coding gene	gene with protein product		609771			NA	10725330	Standard	NM_016936	XM_005255277	NA	Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.57G>A	16.37:g.4902975G>A		NA	B7Z6D3|D3DUE8|Q13079|Q9P1P7	37	CCDS10525.1																																																																																			UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251719.1		+	ENST00000396658.4	Silent	SNP	16 : 4902975 - 4902975 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	458	36
CTD-2215E18.1	0	broad.mit.edu	37	5	96430577	96430577	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:96430577G>A	ENST00000509481.1	+	1	130				LIX1_ENST00000274382.4_Silent_p.L242L						NA										urinary_tract(1)	1						TAAAACCGTAGTTCTTGTCCT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	124	123			NA	NA	5		NA											NA				96430577		2203	4300	6503	SO:0001627	intron_variant											NA	NA			NA							NA					NA						ENST00000509481.1:c.-412+5669G>A	5.37:g.96430577G>A		NA		37																																																																																				CTD-2215E18.1-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000370857.1		+	ENST00000509481.1	Intron	SNP	5 : 96430577 - 96430577 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	492	108
GGT5	2687	broad.mit.edu	37	22	24622114	24622114	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24622114C>T	ENST00000327365.4	-	8	1575	c.1159G>A	c.(1159-1161)Ggc>Agc	p.G387S	GGT5_ENST00000418439.2_Missense_Mutation_p.G310S|GGT5_ENST00000263112.7_Missense_Mutation_p.G355S|GGT5_ENST00000398292.3_Missense_Mutation_p.G387S	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	387					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						TGGGACGTGCCTGTCCCGTGG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	31	31			NA	NA	22		NA											NA				24622114		2203	4299	6502	SO:0001583	missense			M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998	2687	2687		Gamma-glutamyltransferases	4260	protein-coding gene	gene with protein product		137168	gamma-glutamyltransferase-like activity 1	GGTLA1	NA	1676842, 8095916, 18357469	Standard	NM_004121	NM_004121	NA	Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.1159G>A	22.37:g.24622114C>T	ENSP00000330080:p.Gly387Ser	NA	Q96FC1|Q9UFM5	37	CCDS13825.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715644	0.68844	.	.	ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292;ENST00000418439	T;T;T;T	0.08634	3.07;3.07;3.07;3.07	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.33760	0.0874	M	0.87758	2.905	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.998;1.0;0.995;1.0	D;D;D;D;D	0.91635	0.984;0.99;0.999;0.97;0.999	T	0.29912	-0.9996	10	0.72032	D	0.01	-35.4785	15.122	0.72450	0.0:1.0:0.0:0.0	.	310;355;387;387;387	E7EUG3;P36269-2;Q53XM9;Q6GMP0;P36269	.;.;.;.;GGT5_HUMAN	S	387;355;302;387;310	ENSP00000330080:G387S;ENSP00000263112:G355S;ENSP00000381340:G387S;ENSP00000392146:G310S	ENSP00000263112:G355S	G	-	1	0	GGT5	22952114	1.000000	0.71417	0.990000	0.47175	0.058000	0.15608	6.805000	0.75191	2.262000	0.75019	0.485000	0.47835	GGC	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320119.1		-	ENST00000327365.4	Missense_Mutation	SNP	22 : 24622114 - 24622114 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	191	29
TNFAIP8L3	388121	broad.mit.edu	37	15	51350473	51350473	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51350473C>A	ENST00000327536.5	-	3	583	c.484G>T	c.(484-486)Gcc>Tcc	p.A162S	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	162										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		ATCTTGTGGGCTTCCTTCTTG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													334	269	291			NA	NA	15		NA											NA				51350473		2196	4293	6489	SO:0001583	missense			AK123281	CCDS32241.1	15q21.2	2005-08-09				ENSG00000183578	388121	388121			20620	protein-coding gene	gene with protein product					NA		Standard	NM_207381	XM_005254367	NA	Approved	FLJ41287	uc001zyy.3	Q5GJ75		ENST00000327536.5:c.484G>T	15.37:g.51350473C>A	ENSP00000328016:p.Ala162Ser	NA	Q6ZWD1	37	CCDS32241.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813604	0.90790	.	.	ENSG00000183578	ENST00000327536	T	0.38722	1.12	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.62804	0.2458	L	0.58354	1.805	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.62618	-0.6816	10	0.54805	T	0.06	-14.7162	18.3372	0.90293	0.0:1.0:0.0:0.0	.	162	Q5GJ75	TP8L3_HUMAN	S	162	ENSP00000328016:A162S	ENSP00000328016:A162S	A	-	1	0	TNFAIP8L3	49137765	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.725000	0.61979	2.569000	0.86673	0.508000	0.49915	GCC	TNFAIP8L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418661.1		-	ENST00000327536.5	Missense_Mutation	SNP	15 : 51350473 - 51350473 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	836	111
ZAP70	7535	broad.mit.edu	37	2	98340886	98340886	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98340886G>T	ENST00000264972.5	+	3	602	c.387G>T	c.(385-387)caG>caT	p.Q129H		NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	129	Interdomain A.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						ACGTGCGCCAGACGTGGAAGC	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													5	6	5			NA	NA	2		NA											NA				98340886		1968	3950	5918	SO:0001583	missense			L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085	7535	7535		SH2 domain containing	12858	protein-coding gene	gene with protein product		176947	zeta-chain (TCR) associated protein kinase (70 kD)	SRK	NA	1423621	Standard		NM_001079	NA	Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.387G>T	2.37:g.98340886G>T	ENSP00000264972:p.Gln129His	NA	A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	37	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730690	0.48939	.	.	ENSG00000115085	ENST00000264972	T	0.25912	1.77	4.9	4.9	0.64082	Tyrosine-protein kinase SYK/ZAP-70, inter-SH2 domain (1);	0.000000	0.47852	D	0.000211	T	0.25344	0.0616	L	0.45137	1.4	0.80722	D	1	B;B	0.16396	0.017;0.003	B;B	0.12837	0.008;0.002	T	0.03673	-1.1014	10	0.54805	T	0.06	.	15.9444	0.79782	0.0:0.0:1.0:0.0	.	129;129	B4E0E2;P43403	.;ZAP70_HUMAN	H	129	ENSP00000264972:Q129H	ENSP00000264972:Q129H	Q	+	3	2	ZAP70	97707318	1.000000	0.71417	0.991000	0.47740	0.917000	0.54804	1.599000	0.36751	2.449000	0.82847	0.467000	0.42956	CAG	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329278.1		+	ENST00000264972.5	Missense_Mutation	SNP	2 : 98340886 - 98340886 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	57	10
NOD2	64127	broad.mit.edu	37	16	50745198	50745198	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50745198G>A	ENST00000300589.2	+	4	1481	c.1376G>A	c.(1375-1377)cGc>cAc	p.R459H		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	459	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CTGAGGAAGCGCCATCATGAG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	72	70			NA	NA	16		NA											NA				50745198		2198	4299	6497	SO:0001583	missense			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207	64127	64127		Nucleotide-binding domain and leucine rich repeat containing	5331	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2, NOD-like receptor C2, NLR family, CARD domain containing 2	605956	caspase recruitment domain family, member 15	IBD1, CARD15	NA	7809109, 8587604	Standard	NM_022162	XM_005256084	NA	Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1376G>A	16.37:g.50745198G>A	ENSP00000300589:p.Arg459His	NA	Q96RH5|Q96RH6|Q96RH8	37	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.470983	0.01044	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.78003	-1.14	5.12	2.32	0.28847	.	0.954894	0.08725	N	0.902954	T	0.51958	0.1705	N	0.03948	-0.315	0.25087	N	0.990887	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.08055	0.002;0.0;0.003	T	0.36744	-0.9735	10	0.12103	T	0.63	.	6.681	0.23119	0.5308:0.0:0.4692:0.0	.	243;432;459	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	H	432;459	ENSP00000300589:R459H	ENSP00000300589:R459H	R	+	2	0	NOD2	49302699	0.712000	0.27916	0.723000	0.30687	0.042000	0.13812	3.150000	0.50662	0.267000	0.21916	0.561000	0.74099	CGC	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256876.2		+	ENST00000300589.2	Missense_Mutation	SNP	16 : 50745198 - 50745198 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	590	67
NAV1	89796	broad.mit.edu	37	1	201786359	201786359	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201786359C>T	ENST00000367302.1	+	29	5577	c.5343C>T	c.(5341-5343)ccC>ccT	p.P1781P	NAV1_ENST00000367295.1_Silent_p.P1434P|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Silent_p.P1820P|IPO9-AS1_ENST00000421449.1_RNA|NAV1_ENST00000295624.6_Silent_p.P1825P|NAV1_ENST00000367296.4_Silent_p.P1828P|NAV1_ENST00000367300.3_Silent_p.P1768P			Q8NEY1	NAV1_HUMAN	neuron navigator 1	1828					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCTCACCTCCCGAGGATAGGA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	0,4406		0,0,2203	85	76	79		4302,5484	-11.1	0.4	1		79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	NAV1	NM_001167738.1,NM_020443.4	,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,	1434/1484,1828/1878	201786359	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369	89796	89796			15989	protein-coding gene	gene with protein product	neuron navigator-1, pore membrane and/or filament interacting like protein 3	611628			NA	12079279, 12062803	Standard	NM_020443	NM_020443	NA	Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367302.1:c.5343C>T	1.37:g.201786359C>T		NA	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	37																																																																																				NAV1-006	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000087018.1		+	ENST00000367302.1	Silent	SNP	1 : 201786359 - 201786359 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	268	62
EPS8	2059	broad.mit.edu	37	12	15803788	15803788	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15803788C>T	ENST00000540613.1	-	7	1023	c.623G>A	c.(622-624)cGc>cAc	p.R208H	EPS8_ENST00000542903.1_Missense_Mutation_p.R208H|EPS8_ENST00000543612.1_Missense_Mutation_p.R468H|EPS8_ENST00000281172.5_Missense_Mutation_p.R468H|EPS8_ENST00000543523.1_Missense_Mutation_p.R468H			Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	468					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TTCCTGTTTGCGCTGATGTTC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	106	108			NA	NA	12		NA											NA				15803788		2203	4300	6503	SO:0001583	missense			U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491	NA	2059			3420	protein-coding gene	gene with protein product		600206			NA	8084614	Standard		NM_004447	NA	Approved		uc001rdb.3	Q12929		ENST00000540613.1:c.623G>A	12.37:g.15803788C>T	ENSP00000441888:p.Arg208His	NA	A6NMC3|Q8N6J0	37		.	.	.	.	.	.	.	.	.	.	C	13.42	2.231913	0.39399	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903;ENST00000543223	T;T;T;T;T	0.07327	3.34;3.34;3.34;3.2;3.2	4.86	3.97	0.46021	.	0.290153	0.34652	N	0.003785	T	0.08891	0.0220	L	0.41710	1.295	0.40309	D	0.978692	B	0.11235	0.004	B	0.06405	0.002	T	0.08617	-1.0713	10	0.54805	T	0.06	-5.4412	13.0165	0.58759	0.0:0.9215:0.0:0.0785	.	468	Q12929	EPS8_HUMAN	H	468;468;468;208;208;468	ENSP00000441867:R468H;ENSP00000281172:R468H;ENSP00000442388:R468H;ENSP00000441888:R208H;ENSP00000437806:R208H	ENSP00000281172:R468H	R	-	2	0	EPS8	15695055	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	3.162000	0.50755	1.022000	0.39626	0.650000	0.86243	CGC	EPS8-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000401095.1		-	ENST00000540613.1	Missense_Mutation	SNP	12 : 15803788 - 15803788 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	637	93
SLC28A3	64078	broad.mit.edu	37	9	86955505	86955505	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86955505C>A	ENST00000376238.4	-	1	93	c.44G>T	c.(43-45)aGc>aTc	p.S15I	SLC28A3_ENST00000537648.1_5'UTR|SLC28A3_ENST00000495823.1_5'UTR	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	15					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GCCCACGTTGCTGTAGCCCTC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(106;425 1539 34835 42413 43572)							NA				0													150	130	137			NA	NA	9		NA											NA				86955505		2203	4300	6503	SO:0001583	missense			AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506	64078	64078		Solute carriers	16484	protein-coding gene	gene with protein product		608269	solute carrier family 28 (sodium-coupled nucleoside transporter), member 3		NA	11032837	Standard	NM_022127	NM_001199633	NA	Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.44G>T	9.37:g.86955505C>A	ENSP00000365413:p.Ser15Ile	NA	A8K9Y4|B1AML0	37	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	C	8.574	0.880787	0.17467	.	.	ENSG00000197506	ENST00000376238	T	0.01613	4.73	4.44	-0.595	0.11660	.	1.122910	0.06607	N	0.754892	T	0.01870	0.0059	L	0.36672	1.1	0.25130	N	0.990578	B	0.23128	0.08	B	0.24701	0.055	T	0.48080	-0.9066	10	0.45353	T	0.12	-0.0182	3.624	0.08107	0.1677:0.4559:0.0:0.3764	.	15	Q9HAS3	S28A3_HUMAN	I	15	ENSP00000365413:S15I	ENSP00000365413:S15I	S	-	2	0	SLC28A3	86145325	0.282000	0.24268	0.056000	0.19401	0.013000	0.08279	0.177000	0.16801	-0.101000	0.12219	0.561000	0.74099	AGC	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052874.1		-	ENST00000376238.4	Missense_Mutation	SNP	9 : 86955505 - 86955505 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	668	119
HIF1A	3091	broad.mit.edu	37	14	62207888	62207888	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:62207888C>A	ENST00000394997.1	+	12	2343	c.2078C>A	c.(2077-2079)tCt>tAt	p.S693Y	HIF1A_ENST00000337138.4_Missense_Mutation_p.S692Y|HIF1A_ENST00000539097.1_Missense_Mutation_p.S716Y|HIF1A_ENST00000323441.6_Missense_Mutation_p.S692Y|HIF1A-AS2_ENST00000554254.1_lincRNA|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000557538.1_Missense_Mutation_p.S633Y			Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	692	ID.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		AACGTGTTATCTGTCGCTTTG	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	74	77			NA	NA	14		NA											NA				62207888		2203	4300	6503	SO:0001583	missense			U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644	3091	3091		Basic helix-loop-helix proteins	4910	protein-coding gene	gene with protein product		603348			NA	8786149, 9079689	Standard	NM_001530	NM_001530	NA	Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000394997.1:c.2078C>A	14.37:g.62207888C>A	ENSP00000378446:p.Ser693Tyr	NA	Q53XP6|Q96PT9|Q9UPB1	37		.	.	.	.	.	.	.	.	.	.	C	13.10	2.136336	0.37728	.	.	ENSG00000100644	ENST00000539494;ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	T;T;T;T;T	0.56776	0.59;0.59;0.44;0.59;0.58	5.72	5.72	0.89469	.	1.828410	0.02128	N	0.056185	T	0.57359	0.2048	L	0.48642	1.525	0.37396	D	0.912625	P;P;P	0.42357	0.777;0.731;0.731	B;B;B	0.37047	0.232;0.24;0.24	T	0.60342	-0.7282	10	0.66056	D	0.02	.	20.2406	0.98372	0.0:1.0:0.0:0.0	.	693;692;692	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	Y	443;633;692;693;692;633;716	ENSP00000338018:S692Y;ENSP00000378446:S693Y;ENSP00000323326:S692Y;ENSP00000451696:S633Y;ENSP00000437955:S716Y	ENSP00000323326:S692Y	S	+	2	0	HIF1A	61277641	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.937000	0.56575	2.857000	0.98124	0.650000	0.86243	TCT	HIF1A-003	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000276979.1		+	ENST00000394997.1	Missense_Mutation	SNP	14 : 62207888 - 62207888 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	417	73
MAP3K12	7786	broad.mit.edu	37	12	53880946	53880946	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53880946G>A	ENST00000547035.1	-	2	434	c.230C>T	c.(229-231)gCc>gTc	p.A77V	MAP3K12_ENST00000547488.1_Missense_Mutation_p.A77V|MAP3K12_ENST00000267079.2_Intron|MAP3K12_ENST00000547151.1_Intron			Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	46					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GACACTGTTGGCAAAAGGCTC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	44	44			NA	NA	12		NA											NA				53880946		2203	4300	6503	SO:0001583	missense			U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625	7786	7786		Mitogen-activated protein kinase cascade / Kinase kinase kinases	6851	protein-coding gene	gene with protein product	dual leucine zipper kinase DLK	600447		ZPK	NA	8037767	Standard	NM_006301	NM_006301	NA	Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000547035.1:c.230C>T	12.37:g.53880946G>A	ENSP00000448689:p.Ala77Val	NA	Q86VQ5|Q8WY25	37	CCDS55831.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965520	0.74131	.	.	ENSG00000139625	ENST00000547488;ENST00000547035	T;T	0.76448	-1.02;-1.02	5.14	5.14	0.70334	.	.	.	.	.	T	0.70360	0.3215	N	0.14661	0.345	0.32609	N	0.524887	D	0.53885	0.963	P	0.50109	0.631	T	0.69771	-0.5055	9	0.15066	T	0.55	.	17.7558	0.88449	0.0:0.0:1.0:0.0	.	77	G3V1Y2	.	V	77	ENSP00000449038:A77V;ENSP00000448689:A77V	ENSP00000448689:A77V	A	-	2	0	MAP3K12	52167213	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.283000	0.43470	2.584000	0.87258	0.462000	0.41574	GCC	MAP3K12-005	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406270.1		-	ENST00000547035.1	Missense_Mutation	SNP	12 : 53880946 - 53880946 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	377	69
ABCC4	10257	broad.mit.edu	37	13	95886992	95886992	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95886992A>G	ENST00000376887.4	-	4	517	c.403T>C	c.(403-405)Tac>Cac	p.Y135H	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Missense_Mutation_p.Y135H|ABCC4_ENST00000431522.1_Missense_Mutation_p.Y135H|ABCC4_ENST00000536256.1_Intron	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	135	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	p.Y135H(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GCATAGGCGTACGCTGTGTTC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	large_intestine(2)											82	71	75			NA	NA	13		NA											NA				95886992		2203	4300	6503	SO:0001583	missense			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257	10257	10257		ATP binding cassette transporters / subfamily C	55	protein-coding gene	gene with protein product	canalicular multispecific organic anion transporter (ABC superfamily), bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4), multidrug resistance-associated protein 4, multispecific organic anion transporter B	605250			NA	8894702, 9661885	Standard	NM_005845	NM_005845	NA	Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.403T>C	13.37:g.95886992A>G	ENSP00000366084:p.Tyr135His	NA	A9Z1Z7|Q8IZN6|Q8NEW8|Q9Y6J2	37	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	A	9.128	1.010584	0.19277	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000431522	D;D;D	0.90900	-2.75;-2.75;-2.75	5.27	4.1	0.47936	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.333305	0.32624	N	0.005842	D	0.94545	0.8243	M	0.90595	3.13	0.58432	D	0.999998	P;B;P;B	0.41232	0.743;0.086;0.743;0.245	P;B;P;B	0.53224	0.721;0.2;0.721;0.41	D	0.94090	0.7352	10	0.66056	D	0.02	.	10.9779	0.47478	0.9269:0.0:0.073:0.0	.	135;135;135;135	A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;MRP4_HUMAN	H	135	ENSP00000388657:Y135H;ENSP00000366084:Y135H;ENSP00000398562:Y135H	ENSP00000366084:Y135H	Y	-	1	0	ABCC4	94684993	0.993000	0.37304	0.007000	0.13788	0.038000	0.13279	4.615000	0.61190	0.851000	0.35264	0.533000	0.62120	TAC	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045478.2		-	ENST00000376887.4	Missense_Mutation	SNP	13 : 95886992 - 95886992 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	149	29
PCDHGC3	5098	broad.mit.edu	37	5	140856829	140856829	+	Silent	SNP	C	C	T	rs60063068	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140856829C>T	ENST00000308177.3	+	1	1250	c.1146C>T	c.(1144-1146)ggC>ggT	p.G382G	PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1			protocadherin gamma subfamily C, 3	NA										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGATGCTGGCGAGAACGGGC	0.567		NA											C	2	9e-04	0.0041	NA	2184	NA	0.9998	,	,	NA	3e-04	NA	NA	NA	9e-04	0.9073	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0								C	,,,,,,,,,,,,,,,,,,,,,,	24,4382	30.8+/-60.4	0,24,2179	44	42	42		1146,,,,,,,,,,,,,,,,,,,,,1146,	-3.2	0.9	5	dbSNP_129	42	0,8600		0,0,4300	no	coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous,intron	PCDHGC3,PCDHGB4,PCDHGA8,PCDHGA12,PCDHGB7,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA11,PCDHGA10,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_002588.2,NM_003735.2,NM_003736.2,NM_018912.2,NM_018913.2,NM_018914.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_018927.3,NM_032088.1,NM_032092.1,NM_032402.1,NM_032403.1	,,,,,,,,,,,,,,,,,,,,,,	0,24,6479	TT,TC,CC	NA	0.0,0.5447,0.1845	,,,,,,,,,,,,,,,,,,,,,,	382/935,,,,,,,,,,,,,,,,,,,,,382/864,	140856829	24,12982	2203	4300	6503	SO:0001819	synonymous_variant			AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184	5098	5098		Cadherins / Protocadherins : Clustered	8716	other	protocadherin	cadherin-like 2, protocadherin 2, protocadherin 43	603627		PCDH2	NA	9360932, 8508762	Standard	NM_002588	NM_032402	NA	Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.1146C>T	5.37:g.140856829C>T		NA		37	CCDS4261.1																																																																																			PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251808.2		+	ENST00000308177.3	Silent	SNP	5 : 140856829 - 140856829 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	243	52
RP11-1084J3.4	0	broad.mit.edu	37	5	34033454	34033454	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:34033454G>A	ENST00000382079.3	-	3	332	c.258C>T	c.(256-258)ggC>ggT	p.G86G	C1QTNF3_ENST00000231338.7_Silent_p.G102G|C1QTNF3_ENST00000382065.3_Silent_p.G175G						102											NA						CTCCTTTGGGGCCATGCTGCC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	112	112			NA	NA	5		NA											NA				34033454		2203	4300	6503	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000382079.3:c.258C>T	5.37:g.34033454G>A		NA		37																																																																																				RP11-1084J3.4-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000472964.1		-	ENST00000382079.3	Silent	SNP	5 : 34033454 - 34033454 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	420	70
CDK15	65061	broad.mit.edu	37	2	202744776	202744776	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202744776G>T	ENST00000450471.2	+	12	1170	c.1084G>T	c.(1084-1086)Gac>Tac	p.D362Y	CDK15_ENST00000410091.3_Missense_Mutation_p.D311Y|CDK15_ENST00000260967.2_Missense_Mutation_p.D311Y|CDK15_ENST00000374598.4_Missense_Mutation_p.D362Y|CDK15_ENST00000434439.1_Missense_Mutation_p.D362Y	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	362	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	TGAAGCTGAAGACCTGGCCTC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	62	62			NA	NA	2		NA											NA				202744776		2203	4300	6503	SO:0001583	missense			AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395	65061	65061		Cyclin-dependent kinases	14434	protein-coding gene	gene with protein product			amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7, PFTAIRE protein kinase 2	ALS2CR7, PFTK2	NA	11586298, 16236519, 19884882	Standard		NM_139158	NA	Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000450471.2:c.1084G>T	2.37:g.202744776G>T	ENSP00000406472:p.Asp362Tyr	NA	A8K8R9|B8ZZX0|C9J1N8|C9K003|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	37	CCDS58747.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966716	0.74131	.	.	ENSG00000138395	ENST00000410091;ENST00000260967;ENST00000450471;ENST00000434439;ENST00000374598	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	5.96	5.96	0.96718	.	0.055265	0.64402	D	0.000001	T	0.79358	0.4432	M	0.93241	3.395	0.58432	D	0.999999	D	0.89917	1.0	D	0.74348	0.983	D	0.83988	0.0336	10	0.87932	D	0	-16.011	15.4778	0.75497	0.0677:0.0:0.9323:0.0	.	362	F8W6H8	.	Y	311;311;362;362;362	ENSP00000386901:D311Y;ENSP00000260967:D311Y;ENSP00000406472:D362Y;ENSP00000412775:D362Y;ENSP00000363726:D362Y	ENSP00000260967:D311Y	D	+	1	0	CDK15	202453021	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	5.404000	0.66344	2.828000	0.97474	0.655000	0.94253	GAC	CDK15-006	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336053.2		+	ENST00000450471.2	Missense_Mutation	SNP	2 : 202744776 - 202744776 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	257	16
NCK1	4690	broad.mit.edu	37	3	136667191	136667191	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136667191C>T	ENST00000469404.1	+	3	929	c.838C>T	c.(838-840)Cgt>Tgt	p.R280C	NCK1_ENST00000288986.2_Missense_Mutation_p.R344C|NCK1_ENST00000481752.1_Missense_Mutation_p.R344C|IL20RB_ENST00000484501.1_Intron	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN	NCK adaptor protein 1	344					axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						CATTGGGCAGCGTAAATTCAG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	93	94			NA	NA	3		NA											NA				136667191		2203	4300	6503	SO:0001583	missense			X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092	4690	4690		SH2 domain containing	7664	protein-coding gene	gene with protein product		600508		NCK	NA	7806213, 9737977	Standard	NM_006153	XM_005247498	NA	Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	ENST00000469404.1:c.838C>T	3.37:g.136667191C>T	ENSP00000419631:p.Arg280Cys	NA	D3DNE3	37	CCDS54644.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198929	0.79015	.	.	ENSG00000158092	ENST00000288986;ENST00000481752;ENST00000469404;ENST00000467911	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.81	4.93	0.64822	SH2 motif (4);	0.000000	0.85682	D	0.000000	T	0.73621	0.3610	M	0.87097	2.86	0.80722	D	1	D;P	0.53151	0.958;0.939	P;P	0.50537	0.635;0.643	T	0.79279	-0.1869	10	0.87932	D	0	.	13.1657	0.59569	0.0:0.9208:0.0:0.0792	.	280;344	B7Z751;P16333	.;NCK1_HUMAN	C	344;344;280;147	ENSP00000288986:R344C;ENSP00000417273:R344C;ENSP00000419631:R280C;ENSP00000418060:R147C	ENSP00000288986:R344C	R	+	1	0	NCK1	138149881	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.752000	0.68728	2.756000	0.94617	0.655000	0.94253	CGT	NCK1-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357287.1		+	ENST00000469404.1	Missense_Mutation	SNP	3 : 136667191 - 136667191 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	65
CDC42	998	broad.mit.edu	37	1	22417980	22417980	+	Silent	SNP	G	G	A	rs16826564		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22417980G>A	ENST00000344548.3	+	7	797	c.546G>A	c.(544-546)ccG>ccA	p.P182P	CDC42_ENST00000400259.1_Silent_p.P182P|CDC42_ENST00000421089.2_Silent_p.P224P	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42	182					actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		CTCCAGAACCGAAGAAGAGCC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	59	58			NA	NA	1		NA											NA				22417980		2203	4300	6503	SO:0001819	synonymous_variant			BC018266	CCDS221.1, CCDS222.1	1p36.1	2013-01-17	2013-01-17		ENSG00000070831	ENSG00000070831	998	998			1736	protein-coding gene	gene with protein product	GTP binding protein, 25kDa	116952	cell division cycle 42 (GTP-binding protein, 25kD), cell division cycle 42 (GTP binding protein, 25kDa)		NA	2124704, 2122236	Standard	NM_001791	NM_001039802	NA	Approved	G25K, CDC42Hs	uc001bfr.3	P60953	OTTHUMG00000002753	ENST00000344548.3:c.546G>A	1.37:g.22417980G>A		NA	P21181|P25763|Q7L8R5|Q9UDI2	37	CCDS221.1																																																																																			CDC42-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007787.1		+	ENST00000344548.3	Silent	SNP	1 : 22417980 - 22417980 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	37
CSAD	51380	broad.mit.edu	37	12	53565117	53565117	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53565117G>A	ENST00000267085.4	-	8	874	c.641C>T	c.(640-642)tCg>tTg	p.S214L	CSAD_ENST00000379843.3_Intron|CSAD_ENST00000542115.1_3'UTR|CSAD_ENST00000444623.1_Missense_Mutation_p.S187L|CSAD_ENST00000379846.1_Intron|CSAD_ENST00000453446.2_Missense_Mutation_p.S187L	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	187					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CACCTCCTTCGATGTGAATAG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(109;252 1546 16882 28524 44645)							NA				0													50	52	51			NA	NA	12		NA											NA				53565117		2203	4300	6503	SO:0001583	missense			AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631	51380	51380			18966	protein-coding gene	gene with protein product	P-selectin cytoplasmic tail-associated protein				NA	15489334	Standard	NM_015989	NM_015989	NA	Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000267085.4:c.641C>T	12.37:g.53565117G>A	ENSP00000267085:p.Ser214Leu	NA	A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	37	CCDS8848.2	.	.	.	.	.	.	.	.	.	.	G	33	5.281540	0.95489	.	.	ENSG00000139631	ENST00000308926;ENST00000267085;ENST00000544139;ENST00000444623;ENST00000453446;ENST00000454442	T;T;T	0.57273	0.41;0.41;0.41	5.36	5.36	0.76844	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.199464	0.44902	D	0.000412	T	0.81123	0.4757	H	0.95884	3.735	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.65443	0.933;0.935	D	0.87121	0.2191	10	0.87932	D	0	-6.8019	18.2528	0.90009	0.0:0.0:1.0:0.0	.	214;187	Q9Y600-3;Q9Y600	.;CSAD_HUMAN	L	276;214;187;187;187;81	ENSP00000267085:S214L;ENSP00000415485:S187L;ENSP00000410648:S187L	ENSP00000267085:S214L	S	-	2	0	CSAD	51851384	1.000000	0.71417	0.475000	0.27278	0.918000	0.54935	9.131000	0.94446	2.682000	0.91365	0.655000	0.94253	TCG	CSAD-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109403.4		-	ENST00000267085.4	Missense_Mutation	SNP	12 : 53565117 - 53565117 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	72
AGBL2	79841	broad.mit.edu	37	11	47735874	47735874	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47735874A>C	ENST00000528244.1	-	3	312	c.59T>G	c.(58-60)tTt>tGt	p.F20C	AGBL2_ENST00000525123.1_Missense_Mutation_p.F20C|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000298861.4_Missense_Mutation_p.F20C|AGBL2_ENST00000357610.3_Missense_Mutation_p.F20C			Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	20					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						ACGGTACATAAAGTCTTCATA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	113	117			NA	NA	11		NA											NA				47735874		2201	4298	6499	SO:0001583	missense				CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923	79841	79841			26296	protein-coding gene	gene with protein product	cytoplasmic carboxypeptidase 2				NA	12738998, 21303978	Standard	NM_024783	NM_024783	NA	Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000528244.1:c.59T>G	11.37:g.47735874A>C	ENSP00000436630:p.Phe20Cys	NA	A8MPX2|Q53FV5|Q8IV57|Q9H5C0	37		.	.	.	.	.	.	.	.	.	.	A	22.3	4.276428	0.80580	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244;ENST00000532595;ENST00000420784;ENST00000529154;ENST00000530969	T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64;1.64	4.76	4.76	0.60689	.	0.244339	0.35151	N	0.003404	T	0.54679	0.1873	M	0.72894	2.215	0.37178	D	0.903382	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.988;0.972;0.996	T	0.65792	-0.6082	10	0.87932	D	0	-22.7366	14.5772	0.68258	1.0:0.0:0.0:0.0	.	20;20;20	F6U0I4;B4DZS1;Q5U5Z8	.;.;CBPC2_HUMAN	C	20	ENSP00000435582:F20C;ENSP00000350228:F20C;ENSP00000298861:F20C;ENSP00000436630:F20C;ENSP00000436063:F20C;ENSP00000436518:F20C;ENSP00000431835:F20C	ENSP00000298861:F20C	F	-	2	0	AGBL2	47692450	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.886000	0.75611	1.914000	0.55421	0.533000	0.62120	TTT	AGBL2-003	NOVEL	non_canonical_conserved|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000383727.1		-	ENST00000528244.1	Missense_Mutation	SNP	11 : 47735874 - 47735874 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	423	92
NAV2	89797	broad.mit.edu	37	11	20089942	20089942	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20089942A>C	ENST00000396085.1	+	22	5342	c.4981A>C	c.(4981-4983)Aat>Cat	p.N1661H	NAV2_ENST00000396087.3_Missense_Mutation_p.N1717H|NAV2_ENST00000360655.4_Missense_Mutation_p.N1597H|NAV2_ENST00000311043.8_Missense_Mutation_p.N725H|NAV2_ENST00000540292.1_Missense_Mutation_p.N1648H|NAV2_ENST00000533917.1_Missense_Mutation_p.N725H|NAV2_ENST00000349880.4_Missense_Mutation_p.N1661H|NAV2_ENST00000527559.2_Missense_Mutation_p.N1646H	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1717	Ser-rich.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GCTGACAGCAAATGTAAGTAC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	86	87			NA	NA	11		NA											NA				20089942		2203	4300	6503	SO:0001583	missense			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	89797	89797	3.6.1.1		15997	protein-coding gene	gene with protein product	pore membrane and/or filament interacting like protein 2, retinoic acid inducible gene in neuroblastoma 1, helicase, APC down-regulated 1	607026			NA	12079279, 12062803	Standard	NM_145117	NM_145117	NA	Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396085.1:c.4981A>C	11.37:g.20089942A>C	ENSP00000379394:p.Asn1661His	NA	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	37	CCDS7851.2	.	.	.	.	.	.	.	.	.	.	A	25.1	4.600692	0.87055	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	D;D;D;D;D;D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38;-3.38;-3.38;-3.38;-3.38;-3.38	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000003	D	0.95414	0.8511	L	0.60067	1.865	0.58432	D	0.999993	D;D;D;D;D;D	0.89917	0.999;1.0;0.989;0.991;1.0;0.999	D;D;P;D;D;D	0.80764	0.985;0.959;0.847;0.914;0.994;0.949	D	0.94978	0.8123	9	.	.	.	.	13.6741	0.62443	1.0:0.0:0.0:0.0	.	1661;1717;725;710;1661;1597	A7E2D6;Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;NAV2_HUMAN;.;.;.;.	H	1597;1661;1661;1717;1646;1648;725;710;725;710	ENSP00000353871:N1597H;ENSP00000379394:N1661H;ENSP00000309577:N1661H;ENSP00000379396:N1717H;ENSP00000435395:N1646H;ENSP00000443489:N1648H;ENSP00000437316:N725H;ENSP00000437136:N710H;ENSP00000312169:N725H	.	N	+	1	0	NAV2	20046518	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.614000	0.74197	2.060000	0.61445	0.454000	0.30748	AAT	NAV2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324113.1		+	ENST00000396085.1	Missense_Mutation	SNP	11 : 20089942 - 20089942 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	350	78
PLA2G4E	123745	broad.mit.edu	37	15	42276014	42276014	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42276014G>A	ENST00000399518.3	-	20	3031	c.2545C>T	c.(2545-2547)Ctc>Ttc	p.L849F	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.L820F|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	837	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		AGAGCCTGGAGGAGAGTGTCC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	59	59			NA	NA	15		NA											NA				42276014		1915	4122	6037	SO:0001583	missense				CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	123745	123745	3.1.1.4		24791	protein-coding gene	gene with protein product					NA	15866882	Standard	NM_198442	NM_001206670	NA	Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000399518.3:c.2545C>T	15.37:g.42276014G>A	ENSP00000382434:p.Leu849Phe	NA	Q6ZSC0	37	CCDS55962.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823967	0.32237	.	.	ENSG00000188089	ENST00000399518;ENST00000413860	T;T	0.04603	3.59;3.59	5.56	2.41	0.29592	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (1);	0.450271	0.21517	N	0.073294	T	0.06234	0.0161	M	0.80982	2.52	0.24240	N	0.995364	P;B	0.44816	0.844;0.279	B;B	0.34242	0.178;0.178	T	0.33214	-0.9877	10	0.59425	D	0.04	-2.2893	5.4388	0.16496	0.1566:0.0:0.5502:0.2932	.	820;837	C9JK77;Q3MJ16	.;PA24E_HUMAN	F	849;820	ENSP00000382434:L849F;ENSP00000413897:L820F	ENSP00000382434:L849F	L	-	1	0	PLA2G4E	40063306	1.000000	0.71417	0.994000	0.49952	0.389000	0.30415	1.983000	0.40648	0.658000	0.30925	0.655000	0.94253	CTC	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252738.2		-	ENST00000399518.3	Missense_Mutation	SNP	15 : 42276014 - 42276014 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	69	16
PCDH12	51294	broad.mit.edu	37	5	141335130	141335130	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141335130G>A	ENST00000231484.3	-	1	3497	c.2287C>T	c.(2287-2289)Ccc>Tcc	p.P763S		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	763					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCTCTTGGGCTGCTGGCGG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	54	58			NA	NA	5		NA											NA				141335130		2203	4300	6503	SO:0001583	missense			AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555	51294	51294		Cadherins / Protocadherins : Non-clustered	8657	protein-coding gene	gene with protein product		605622			NA	10716726, 10380929	Standard	NM_016580	NM_016580	NA	Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.2287C>T	5.37:g.141335130G>A	ENSP00000231484:p.Pro763Ser	NA	Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	37	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892165	0.72524	.	.	ENSG00000113555	ENST00000231484	T	0.52983	0.64	4.9	4.9	0.64082	.	0.062472	0.64402	D	0.000004	T	0.65842	0.2730	M	0.73962	2.25	0.50813	D	0.999894	D	0.69078	0.997	D	0.64042	0.921	T	0.66073	-0.6014	10	0.41790	T	0.15	.	15.6181	0.76784	0.0:0.0:1.0:0.0	.	763	Q9NPG4	PCD12_HUMAN	S	763	ENSP00000231484:P763S	ENSP00000231484:P763S	P	-	1	0	PCDH12	141315314	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.263000	0.95617	2.571000	0.86741	0.561000	0.74099	CCC	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251858.1		-	ENST00000231484.3	Missense_Mutation	SNP	5 : 141335130 - 141335130 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	357	58
RUSC1	23623	broad.mit.edu	37	1	155300316	155300316	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155300316G>T	ENST00000368352.5	+	10	2814	c.2663G>T	c.(2662-2664)gGc>gTc	p.G888V	RUSC1_ENST00000368354.3_Missense_Mutation_p.G782V|RUSC1_ENST00000292254.4_Missense_Mutation_p.G419V|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368349.4_Missense_Mutation_p.G419V|RUSC1_ENST00000368347.4_Missense_Mutation_p.G478V	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	888	SH3.					cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GGGCGGGATGGCATGGAGGGT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													191	115	141			NA	NA	1		NA											NA				155300316		2203	4300	6503	SO:0001583	missense			AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753	23623	23623			17153	protein-coding gene	gene with protein product					NA	10760598	Standard		NM_001105203	NA	Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.2663G>T	1.37:g.155300316G>T	ENSP00000357336:p.Gly888Val	NA	Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	37	CCDS41410.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504510	0.64410	.	.	ENSG00000160753	ENST00000368354;ENST00000368352;ENST00000368347;ENST00000368349;ENST00000292254	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	4.55	4.55	0.56014	Src homology-3 domain (4);	0.296833	0.24041	N	0.042097	T	0.77994	0.4214	M	0.93978	3.48	0.50467	D	0.999876	D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;0.998;0.99;0.998	D;D;D;D;D;D;D	0.91635	0.969;0.948;0.969;0.999;0.962;0.948;0.957	T	0.81660	-0.0832	10	0.87932	D	0	-16.1287	7.2762	0.26286	0.1519:0.0:0.8481:0.0	.	386;419;419;313;478;387;888	B4DQB8;Q9BVN2-2;Q5T9U9;B3KWM9;Q5T9V0;Q9BT86;Q9BVN2	.;.;.;.;.;.;RUSC1_HUMAN	V	782;888;478;419;419	ENSP00000357338:G782V;ENSP00000357336:G888V;ENSP00000357331:G478V;ENSP00000357333:G419V;ENSP00000292254:G419V	ENSP00000292254:G419V	G	+	2	0	RUSC1	153566940	0.831000	0.29352	0.943000	0.38184	0.942000	0.58702	2.686000	0.46968	2.518000	0.84900	0.467000	0.42956	GGC	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039071.1		+	ENST00000368352.5	Missense_Mutation	SNP	1 : 155300316 - 155300316 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	221	32
CDSN	1041	broad.mit.edu	37	6	31084043	31084043	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31084043C>T	ENST00000376288.2	-	2	1375	c.1349G>A	c.(1348-1350)aGc>aAc	p.S450N	PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000467107.1_3'UTR	NM_001264.4	NP_001255	Q15517	CDSN_HUMAN	corneodesmosin	450	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						GCTGGACTTGCTGCCACAAGG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	40	40			NA	NA	6		NA											NA				31084043		2203	4300	6503	SO:0001583	missense			AF030130	CCDS34389.1	6p21.3	2008-07-29			ENSG00000204539	ENSG00000204539	1041	1041			1802	protein-coding gene	gene with protein product		602593			NA	9395522, 8415725	Standard		NM_001264	NA	Approved	D6S586E	uc003nsm.2	Q15517	OTTHUMG00000031150	ENST00000376288.2:c.1349G>A	6.37:g.31084043C>T	ENSP00000365465:p.Ser450Asn	NA	B0S7V2|B0UYZ7|O43509|Q5SQ85|Q5STD2|Q7LA70|Q7LA71|Q86Z04|Q8IZU4|Q8IZU5|Q8IZU6|Q8N5P3|Q95IF9|Q9NP52|Q9NPE0|Q9NPG5|Q9NRH4|Q9NRH5|Q9NRH6|Q9NRH7|Q9NRH8|Q9UBH8|Q9UIN6|Q9UIN7|Q9UIN8|Q9UIN9|Q9UIP0	37	CCDS34389.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589734	0.66105	.	.	ENSG00000204539	ENST00000376288	T	0.11277	2.79	4.09	4.09	0.47781	.	0.000000	0.52532	D	0.000073	T	0.11922	0.0290	L	0.34521	1.04	0.27733	N	0.944733	D	0.67145	0.996	D	0.75484	0.986	T	0.01771	-1.1277	10	0.72032	D	0.01	-20.7062	11.9619	0.53013	0.0:1.0:0.0:0.0	.	450	Q15517	CDSN_HUMAN	N	450	ENSP00000365465:S450N	ENSP00000365465:S450N	S	-	2	0	CDSN	31192022	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.072000	0.41510	2.260000	0.74910	0.471000	0.43371	AGC	CDSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076275.2		-	ENST00000376288.2	Missense_Mutation	SNP	6 : 31084043 - 31084043 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	299	72
SPCS3	60559	broad.mit.edu	37	4	177249379	177249379	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:177249379T>G	ENST00000503362.1	+	5	554	c.441T>G	c.(439-441)tcT>tcG	p.S147S	SPCS3_ENST00000507001.1_3'UTR	NM_021928.3	NP_068747.1	P61009	SPCS3_HUMAN	signal peptidase complex subunit 3 homolog (S. cerevisiae)	147					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity			ovary(2)	2		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)		TGACCCTGTCTTGGAACGTCG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								T		0,3706		0,0,1853	113	104	107		441	3.2	1	4		107	1,8185		0,1,4092	no	coding-synonymous	SPCS3	NM_021928.3		0,1,5945	GG,GT,TT	NA	0.0122,0.0,0.0084		147/181	177249379	1,11891	1853	4093	5946	SO:0001819	synonymous_variant			AK092634	CCDS54823.1	4q34.2	2008-02-05				ENSG00000129128	60559	60559			26212	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_021928	NM_021928	NA	Approved	FLJ22649, SPC22/23, SPC3, YLR066W, PRO3567	uc003iur.4	P61009		ENST00000503362.1:c.441T>G	4.37:g.177249379T>G		NA	P12280|Q9H0S7	37	CCDS54823.1																																																																																			SPCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362329.1		+	ENST00000503362.1	Silent	SNP	4 : 177249379 - 177249379 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	245	9
TECTB	6975	broad.mit.edu	37	10	114053586	114053586	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114053586G>T	ENST00000369422.3	+	5	574	c.574G>T	c.(574-576)Ggg>Tgg	p.G192W		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	192	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		GGAAGCCAAAGGGTTAAGCAT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	150	150			NA	NA	10		NA											NA				114053586		2203	4300	6503	SO:0001583	missense			AF312827	CCDS7571.1	10q25-q26	2005-06-09			ENSG00000119913	ENSG00000119913	6975	6975			11721	protein-coding gene	gene with protein product		602653			NA	9079715	Standard	NM_058222	NM_058222	NA	Approved		uc001kzr.1	Q96PL2	OTTHUMG00000019056	ENST00000369422.3:c.574G>T	10.37:g.114053586G>T	ENSP00000358430:p.Gly192Trp	NA	Q5VW53	37	CCDS7571.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178868	0.78564	.	.	ENSG00000119913	ENST00000369422	D	0.82526	-1.62	5.97	5.97	0.96955	Endoglin/CD105 antigen conserved site (1);Zona pellucida sperm-binding protein (3);	0.166094	0.53938	D	0.000052	D	0.90215	0.6941	M	0.70275	2.135	0.80722	D	1	D	0.69078	0.997	D	0.63597	0.916	D	0.90484	0.4462	10	0.87932	D	0	.	18.6193	0.91316	0.0:0.0:1.0:0.0	.	192	Q96PL2	TECTB_HUMAN	W	192	ENSP00000358430:G192W	ENSP00000358430:G192W	G	+	1	0	TECTB	114043576	1.000000	0.71417	0.994000	0.49952	0.680000	0.39746	8.328000	0.90014	2.836000	0.97738	0.655000	0.94253	GGG	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050381.1		+	ENST00000369422.3	Missense_Mutation	SNP	10 : 114053586 - 114053586 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	60
OR4K5	79317	broad.mit.edu	37	14	20389182	20389182	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20389182G>T	ENST00000315915.4	+	1	442	c.417G>T	c.(415-417)agG>agT	p.R139S		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGAGCCGAAGGACATGCACTG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													241	238	239			NA	NA	14		NA											NA				20389182		2203	4300	6503	SO:0001583	missense			BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281	79317	79317		GPCR / Class A : Olfactory receptors	14745	protein-coding gene	gene with protein product					NA	14983052	Standard	NM_001005483	NM_001005483	NA	Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.417G>T	14.37:g.20389182G>T	ENSP00000319511:p.Arg139Ser	NA	Q6IFA7	37	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	5.019	0.189108	0.09547	.	.	ENSG00000176281	ENST00000315915	T	0.40756	1.02	4.41	-4.2	0.03823	GPCR, rhodopsin-like superfamily (1);	0.544994	0.16027	N	0.233039	T	0.28300	0.0699	L	0.55213	1.73	0.09310	N	1	B	0.21452	0.056	B	0.24974	0.057	T	0.27938	-1.0059	10	0.59425	D	0.04	.	0.8276	0.01124	0.4045:0.1219:0.2264:0.2472	.	139	Q8NGD3	OR4K5_HUMAN	S	139	ENSP00000319511:R139S	ENSP00000319511:R139S	R	+	3	2	OR4K5	19459022	0.000000	0.05858	0.000000	0.03702	0.136000	0.21042	-2.953000	0.00676	-0.847000	0.04168	-0.137000	0.14449	AGG	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409867.1		+	ENST00000315915.4	Missense_Mutation	SNP	14 : 20389182 - 20389182 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1414	196
PRMT3	10196	broad.mit.edu	37	11	20529951	20529951	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20529951C>A	ENST00000331079.6	+	16	1805	c.1588C>A	c.(1588-1590)Ctc>Atc	p.L530I	PRMT3_ENST00000437750.2_Missense_Mutation_p.L468I	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	530							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						AACTTATGGTCTCCAGTGAAA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	71	74			NA	NA	11		NA											NA				20529951		2203	4300	6503	SO:0001583	missense			AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238	10196	10196		Protein arginine methyltransferases	30163	protein-coding gene	gene with protein product		603190	HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)	HRMT1L3	NA	9642256	Standard	NM_005788	NM_005788	NA	Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.1588C>A	11.37:g.20529951C>A	ENSP00000331879:p.Leu530Ile	NA	B4DUC7	37	CCDS7853.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452315	0.43531	.	.	ENSG00000185238	ENST00000331079;ENST00000437750	T;T	0.32023	1.47;1.47	5.71	4.75	0.60458	.	0.056069	0.64402	D	0.000001	T	0.32675	0.0837	L	0.60845	1.875	0.53005	D	0.999961	B;B	0.18741	0.03;0.01	B;B	0.29176	0.099;0.046	T	0.13953	-1.0490	10	0.52906	T	0.07	-11.2682	11.1838	0.48644	0.1831:0.8169:0.0:0.0	.	468;530	O60678-2;O60678	.;ANM3_HUMAN	I	530;468	ENSP00000331879:L530I;ENSP00000397766:L468I	ENSP00000331879:L530I	L	+	1	0	PRMT3	20486527	0.992000	0.36948	0.977000	0.42913	0.717000	0.41224	2.991000	0.49409	2.684000	0.91462	0.650000	0.86243	CTC	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387489.1		+	ENST00000331079.6	Missense_Mutation	SNP	11 : 20529951 - 20529951 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	16
KIF12	113220	broad.mit.edu	37	9	116856514	116856514	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116856514C>T	ENST00000374118.3	-	10	1083	c.846G>A	c.(844-846)caG>caA	p.Q282Q	KIF12_ENST00000473174.1_Intron	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	415	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						ACAGGTTCCGCTGGGCCCAGG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	61	60			NA	NA	9		NA											NA				116856514		2203	4300	6503	SO:0001819	synonymous_variant			BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883	113220	113220		Kinesins	21495	protein-coding gene	gene with protein product		611278			NA		Standard	NM_138424	NM_138424	NA	Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.846G>A	9.37:g.116856514C>T		NA	Q5TBE0	37	CCDS6801.1																																																																																			KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053751.1		-	ENST00000374118.3	Silent	SNP	9 : 116856514 - 116856514 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	529	87
CDRT4	284040	broad.mit.edu	37	17	15341153	15341153	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15341153G>T	ENST00000312177.6	-	4	673	c.393C>A	c.(391-393)aaC>aaA	p.N131K	CDRT4_ENST00000519354.1_5'UTR|TVP23C-CDRT4_ENST00000522212.2_3'UTR	NM_001204477.1	NP_001191406.1	Q8N9R6	CDRT4_HUMAN	CMT1A duplicated region transcript 4	131										endometrium(3)|skin(1)	4				UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)		TCTTGTTATAGTTTTCAGTTG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	113	119			NA	NA	17		NA											NA				15341153		2203	4300	6503	SO:0001583	missense			BC029542	CCDS73995.1	17p12	2011-09-28			ENSG00000239704	ENSG00000239704	284040	284040			14383	protein-coding gene	gene with protein product					NA	11381029	Standard	NM_173622	NM_001204477	NA	Approved	FLJ36674	uc002gop.2	Q8N9R6	OTTHUMG00000059070	ENST00000312177.6:c.393C>A	17.37:g.15341153G>T	ENSP00000310031:p.Asn131Lys	NA	A8MSL9|Q8IZ19	37		.	.	.	.	.	.	.	.	.	.	G	15.21	2.764707	0.49574	.	.	ENSG00000239704	ENST00000520956;ENST00000312177	T	0.33438	1.41	4.98	1.66	0.24008	.	0.729990	0.12744	N	0.442764	T	0.25754	0.0627	L	0.56769	1.78	0.09310	N	0.999999	B	0.27882	0.192	B	0.25759	0.063	T	0.28459	-1.0043	10	0.62326	D	0.03	-3.0843	3.8536	0.08965	0.2239:0.2043:0.5718:0.0	.	131	Q8N9R6	CDRT4_HUMAN	K	132;131	ENSP00000310031:N131K	ENSP00000310031:N131K	N	-	3	2	CDRT4	15281878	0.391000	0.25221	0.029000	0.17559	0.701000	0.40568	1.313000	0.33585	0.665000	0.31066	0.650000	0.86243	AAC	CDRT4-001	KNOWN	non_canonical_conserved|non_canonical_other|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000130383.7		-	ENST00000312177.6	Missense_Mutation	SNP	17 : 15341153 - 15341153 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	312	68
PTGDS	5730	broad.mit.edu	37	9	139873809	139873809	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139873809C>T	ENST00000460340.1	+	0	425				PTGDS_ENST00000224167.2_Missense_Mutation_p.T130M|PTGDS_ENST00000371625.3_Intron			P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	NA					prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CTTGCCGGGACGACTCTGGGC	0.731		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													7	10	9			NA	NA	9		NA											NA				139873809		686	1580	2266	SO:0001624	3_prime_UTR_variant			AA621632	CCDS7019.1	9q34.2-q34.3	2011-11-15	2002-08-29		ENSG00000107317	ENSG00000107317	5730	5730	5.3.99.2	Lipocalins	9592	protein-coding gene	gene with protein product	lipocalin-type prostaglandin D synthase	176803	prostaglandin D2 synthase (21kD, brain)		NA	1902577	Standard	NM_000954	NM_000954	NA	Approved	PGDS, L-PGDS	uc004cke.3	P41222	OTTHUMG00000020957	ENST00000460340.1:c.*422C>T	9.37:g.139873809C>T		NA	B2R727|Q5SQ10|Q7M4P3|Q9UC22|Q9UCC9|Q9UCD9	37		.	.	.	.	.	.	.	.	.	.	c	6.653	0.489057	0.12641	.	.	ENSG00000107317	ENST00000224167;ENST00000457950;ENST00000371623	T;T;T	0.52983	1.76;0.77;0.64	1.24	-1.36	0.09085	.	.	.	.	.	T	0.36799	0.0980	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37798	-0.9690	6	0.56958	D	0.05	.	2.4973	0.04624	0.0:0.435:0.3195:0.2455	.	.	.	.	M	130	ENSP00000224167:T130M;ENSP00000392633:T130M;ENSP00000360685:T130M	ENSP00000224167:T130M	T	+	2	0	PTGDS	138993630	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.387000	0.02535	-0.442000	0.07190	-0.494000	0.04653	ACG	PTGDS-006	KNOWN	basic	processed_transcript	NA	protein_coding	OTTHUMT00000055193.1		+	ENST00000460340.1	3'UTR	SNP	9 : 139873809 - 139873809 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	160	30
RINL	126432	broad.mit.edu	37	19	39361854	39361854	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39361854G>A	ENST00000591812.1	-	7	551	c.465C>T	c.(463-465)atC>atT	p.I155I	CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000598904.1_Silent_p.I41I|RINL_ENST00000340740.3_Silent_p.I41I			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	41							GTPase activator activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						GGACCCTGCCGATCTGCACAG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	52	52			NA	NA	19		NA											NA				39361854		2203	4300	6503	SO:0001819	synonymous_variant			AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994	126432	126432			24795	protein-coding gene	gene with protein product					NA		Standard	NM_198445	NM_001195833	NA	Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.465C>T	19.37:g.39361854G>A		NA		37	CCDS59386.1																																																																																			RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460433.1		-	ENST00000591812.1	Silent	SNP	19 : 39361854 - 39361854 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	337	29
ARVCF	421	broad.mit.edu	37	22	19965028	19965028	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19965028C>A	ENST00000263207.3	-	9	2071	c.1780G>T	c.(1780-1782)Gag>Tag	p.E594*	ARVCF_ENST00000406522.1_Nonsense_Mutation_p.E531*|ARVCF_ENST00000344269.3_Nonsense_Mutation_p.E531*|ARVCF_ENST00000401994.1_Nonsense_Mutation_p.E531*|ARVCF_ENST00000406259.1_Nonsense_Mutation_p.E594*	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	594					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GGCTCGGCCTCCTGGTACCTG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	58	56			NA	NA	22		NA											NA				19965028		2203	4300	6503	SO:0001587	stop_gained				CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889	421	421		Armadillo repeat containing	728	protein-coding gene	gene with protein product		602269			NA	9126485, 15456900	Standard	NM_001670	NM_001670	NA	Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.1780G>T	22.37:g.19965028C>A	ENSP00000263207:p.Glu594*	NA	B7WNV2	37	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	C	40	8.382237	0.98786	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	.	.	.	4.05	1.9	0.25705	.	0.159506	0.53938	D	0.000044	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.541	8.6051	0.33769	0.1523:0.7647:0.0:0.083	.	.	.	.	X	594;531;531;531;594	.	.	E	-	1	0	ARVCF	18345028	1.000000	0.71417	0.999000	0.59377	0.600000	0.36913	5.825000	0.69286	0.638000	0.30545	0.563000	0.77884	GAG	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075314.5		-	ENST00000263207.3	Nonsense_Mutation	SNP	22 : 19965028 - 19965028 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	545	76
TSPAN2	10100	broad.mit.edu	37	1	115601596	115601596	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115601596G>A	ENST00000369516.2	-	5	383	c.352C>T	c.(352-354)Cga>Tga	p.R118*	TSPAN2_ENST00000369514.2_Nonsense_Mutation_p.R118*|TSPAN2_ENST00000369515.2_Nonsense_Mutation_p.R93*	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	118			R -> L (in dbSNP:rs9659602).			integral to membrane				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		TGAACATGTCGGATAGCCTGA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													195	182	186			NA	NA	1		NA											NA				115601596		2203	4300	6503	SO:0001587	stop_gained			AF054839	CCDS881.1	1p13.1	2013-02-14			ENSG00000134198	ENSG00000134198	10100	10100		Tetraspanins	20659	protein-coding gene	gene with protein product		613133			NA	9714763, 11739647	Standard	NM_005725	NM_005725	NA	Approved	TSPAN-2, TSN2, FLJ12082	uc001eft.3	O60636	OTTHUMG00000011878	ENST00000369516.2:c.352C>T	1.37:g.115601596G>A	ENSP00000358529:p.Arg118*	NA	Q5TET2|Q8WU05	37	CCDS881.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.780335	0.49891	.	.	ENSG00000134198	ENST00000369516;ENST00000369515;ENST00000433172;ENST00000369514	.	.	.	5.8	4.87	0.63330	.	0.441004	0.26176	N	0.025888	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	9.1783	0.37125	0.0:0.1415:0.5664:0.2921	.	.	.	.	X	118;93;112;118	.	ENSP00000358527:R118X	R	-	1	2	TSPAN2	115403119	0.952000	0.32445	0.749000	0.31150	0.161000	0.22273	2.305000	0.43664	1.424000	0.47217	0.655000	0.94253	CGA	TSPAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032828.1		-	ENST00000369516.2	Nonsense_Mutation	SNP	1 : 115601596 - 115601596 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	795	179
KCTD11	147040	broad.mit.edu	37	17	7256823	7256823	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7256823C>T	ENST00000333751.3	+	1	1616	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	RP11-542C16.1_ENST00000572417.1_RNA	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	188					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				AGGAGAGCGGCGGGAGGTGGT	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	19	17			NA	NA	17		NA											NA				7256823		2167	4253	6420	SO:0001583	missense			AK056227	CCDS32545.1	17p13.2	2013-06-20	2013-06-20	2003-11-26	ENSG00000213859	ENSG00000213859	147040	147040			21302	protein-coding gene	gene with protein product		609848	chromosome 17 open reading frame 36, potassium channel tetramerisation domain containing 11	C17orf36	NA	12186855, 21472142	Standard	NM_001002914	NM_001002914	NA	Approved	REN, KCASH1	uc002gge.4	Q693B1	OTTHUMG00000132061	ENST00000333751.3:c.562C>T	17.37:g.7256823C>T	ENSP00000328352:p.Arg188Trp	NA	B3KPE0	37	CCDS32545.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.237051	0.58886	.	.	ENSG00000213859	ENST00000333751	T	0.71461	-0.57	4.94	2.86	0.33363	.	0.130623	0.29009	U	0.013434	T	0.68430	0.3000	N	0.19112	0.55	0.29962	N	0.819331	D	0.76494	0.999	P	0.62014	0.897	T	0.66642	-0.5872	10	0.66056	D	0.02	.	9.9281	0.41505	0.3702:0.6298:0.0:0.0	.	188	Q693B1	KCD11_HUMAN	W	188	ENSP00000328352:R188W	ENSP00000328352:R188W	R	+	1	2	KCTD11	7197547	0.144000	0.22641	0.592000	0.28758	0.930000	0.56654	0.415000	0.21181	0.622000	0.30249	0.462000	0.41574	CGG	KCTD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255084.2		+	ENST00000333751.3	Missense_Mutation	SNP	17 : 7256823 - 7256823 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	272	54
EGR1	1958	broad.mit.edu	37	5	137802696	137802696	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137802696G>T	ENST00000239938.4	+	2	830	c.558G>T	c.(556-558)caG>caT	p.Q186H		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	186					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCGCCTCCCAGAGCCCACCCC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	116	114			NA	NA	5		NA											NA				137802696		2203	4300	6503	SO:0001583	missense			M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738	1958	1958		Zinc fingers, C2H2-type	3238	protein-coding gene	gene with protein product	nerve growth factor-induced protein A, transcription factor ETR103, zinc finger protein 225, early growth response protein 1	128990			NA	3127059	Standard	NM_001964	NM_001964	NA	Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.558G>T	5.37:g.137802696G>T	ENSP00000239938:p.Gln186His	NA		37	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.270913	0.40194	.	.	ENSG00000120738	ENST00000535792;ENST00000239938	T	0.24723	1.84	4.75	3.88	0.44766	.	0.381500	0.27096	N	0.020949	T	0.40398	0.1115	L	0.53249	1.67	0.37369	D	0.911532	D	0.61697	0.99	D	0.64237	0.923	T	0.42865	-0.9426	10	0.62326	D	0.03	-10.3652	9.4134	0.38505	0.0798:0.1441:0.776:0.0	.	186	P18146	EGR1_HUMAN	H	186	ENSP00000239938:Q186H	ENSP00000239938:Q186H	Q	+	3	2	EGR1	137830595	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	5.315000	0.65810	0.992000	0.38840	0.305000	0.20034	CAG	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251274.1		+	ENST00000239938.4	Missense_Mutation	SNP	5 : 137802696 - 137802696 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1088	253
SCN1A	6323	broad.mit.edu	37	2	166900413	166900413	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166900413G>A	ENST00000409050.1	-	11	1808	c.1809C>T	c.(1807-1809)agC>agT	p.S603S	AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Silent_p.S603S|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Silent_p.S603S|SCN1A_ENST00000303395.4_Silent_p.S603S			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	603						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AATCTCTACGGCTCTCGTTAT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	149	157			NA	NA	2		NA											NA				166900413		2203	4300	6503	SO:0001819	synonymous_variant			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285	6323	6323		Sodium channels, Voltage-gated ion channels / Sodium channels	10585	protein-coding gene	gene with protein product		182389	febrile convulsions 3	SCN1, FEB3	NA	8062593, 16382098, 11823106	Standard	NM_006920	NM_006920	NA	Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000409050.1:c.1809C>T	2.37:g.166900413G>A		NA	Q16172|Q585T7|Q96LA3|Q9C008	37	CCDS54414.1																																																																																			SCN1A-003	NOVEL	non_canonical_U12|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333750.1		-	ENST00000409050.1	Silent	SNP	2 : 166900413 - 166900413 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	491	90
MAML1	9794	broad.mit.edu	37	5	179193167	179193167	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179193167G>A	ENST00000292599.3	+	2	1419	c.1156G>A	c.(1156-1158)Ggc>Agc	p.G386S	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	386					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCCAGTCAGGGCCCAGGAGG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	45	43			NA	NA	5		NA											NA				179193167		2203	4299	6502	SO:0001583	missense			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021	9794	9794			13632	protein-coding gene	gene with protein product	mastermind homolog	605424	mastermind (drosophila)-like 1		NA	11101851, 11390662	Standard	NM_014757	NM_014757	NA	Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.1156G>A	5.37:g.179193167G>A	ENSP00000292599:p.Gly386Ser	NA	Q9NZ12	37	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571803	0.45798	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.27402	1.67	4.88	4.01	0.46588	.	0.078647	0.53938	D	0.000052	T	0.41880	0.1178	M	0.63843	1.955	0.37548	D	0.918591	D;D	0.76494	0.997;0.999	D;D	0.67103	0.949;0.928	T	0.49925	-0.8887	10	0.09084	T	0.74	-19.2223	6.9821	0.24708	0.1549:0.0:0.7039:0.1412	.	423;386	Q59GH4;Q92585	.;MAML1_HUMAN	S	386;423	ENSP00000292599:G386S	ENSP00000292599:G386S	G	+	1	0	MAML1	179125773	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	4.309000	0.59135	1.047000	0.40274	0.305000	0.20034	GGC	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372316.2		+	ENST00000292599.3	Missense_Mutation	SNP	5 : 179193167 - 179193167 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	475	58
CAMSAP2	23271	broad.mit.edu	37	1	200824013	200824013	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200824013C>T	ENST00000358823.2	+	14	4162	c.3892C>T	c.(3892-3894)Cca>Tca	p.P1298S	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.P1282S|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.P1309S	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1309						cytoplasm|microtubule	protein binding				NA						CAAGAGGACGCCAAGGTAAAT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	74	76			NA	NA	1		NA											NA				200824013		2203	4300	6503	SO:0001583	missense			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200	23271	23271			29188	protein-coding gene	gene with protein product		613775	calmodulin regulated spectrin-associated protein 1-like 1	CAMSAP1L1	NA	15897902, 19508979	Standard	NM_203459	XM_005245040	NA	Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000358823.2:c.3892C>T	1.37:g.200824013C>T	ENSP00000351684:p.Pro1298Ser	NA	B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	37	CCDS1404.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.689177	0.48097	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.13420	2.6;2.59;2.61	5.93	5.93	0.95920	.	0.253892	0.44902	D	0.000415	T	0.08537	0.0212	N	0.04724	-0.175	0.80722	D	1	B;B;B	0.27416	0.178;0.112;0.178	B;B;B	0.29862	0.108;0.05;0.108	T	0.25641	-1.0126	10	0.07644	T	0.81	-18.2629	20.3363	0.98740	0.0:1.0:0.0:0.0	.	1282;1309;1298	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	S	1298;1282;1309	ENSP00000351684:P1298S;ENSP00000416800:P1282S;ENSP00000236925:P1309S	ENSP00000236925:P1309S	P	+	1	0	CAMSAP1L1	199090636	1.000000	0.71417	0.894000	0.35097	0.975000	0.68041	4.663000	0.61532	2.814000	0.96858	0.563000	0.77884	CCA	CAMSAP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087034.2		+	ENST00000358823.2	Missense_Mutation	SNP	1 : 200824013 - 200824013 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	213	53
MAML1	9794	broad.mit.edu	37	5	179201852	179201852	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179201852T>C	ENST00000292599.3	+	5	3288	c.3025T>C	c.(3025-3027)Ttg>Ctg	p.L1009L	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	1009					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATGAGTGATTTGGACGACCT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	113	116			NA	NA	5		NA											NA				179201852		2202	4300	6502	SO:0001819	synonymous_variant			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021	9794	9794			13632	protein-coding gene	gene with protein product	mastermind homolog	605424	mastermind (drosophila)-like 1		NA	11101851, 11390662	Standard	NM_014757	NM_014757	NA	Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.3025T>C	5.37:g.179201852T>C		NA	Q9NZ12	37	CCDS34315.1																																																																																			MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372316.2		+	ENST00000292599.3	Silent	SNP	5 : 179201852 - 179201852 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	851	138
ABCA2	20	broad.mit.edu	37	9	139911650	139911650	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139911650C>T	ENST00000341511.6	-	18	2600	c.2551G>A	c.(2551-2553)Gcg>Acg	p.A851T	ABCA2_ENST00000265662.5_Missense_Mutation_p.A851T|ABCA2_ENST00000371605.3_Missense_Mutation_p.A850T	NM_001606.4|NM_212533.2	NP_001597|NP_997698.1	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	850					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ACCCTCACCGCGATGCACTTC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	56	53			NA	NA	9		NA											NA				139911650		2136	4235	6371	SO:0001583	missense			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331	20	20		ATP binding cassette transporters / subfamily A	32	protein-coding gene	gene with protein product		600047		ABC2	NA	8088782	Standard	NM_001606	NM_212533	NA	Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000341511.6:c.2551G>A	9.37:g.139911650C>T	ENSP00000344155:p.Ala851Thr	NA	A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	37	CCDS43909.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575579	0.86645	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.84873	-1.91;-1.91;-1.91	4.08	4.08	0.47627	.	0.198498	0.42821	U	0.000653	D	0.90157	0.6924	L	0.56340	1.77	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.81914	0.995;0.881	D	0.91129	0.4936	10	0.59425	D	0.04	.	16.451	0.83990	0.0:1.0:0.0:0.0	.	850;881	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	T	851;850;881;851	ENSP00000265662:A851T;ENSP00000360666:A850T;ENSP00000344155:A851T	ENSP00000265662:A851T	A	-	1	0	ABCA2	139031471	1.000000	0.71417	0.998000	0.56505	0.591000	0.36615	7.530000	0.81962	2.116000	0.64780	0.313000	0.20887	GCG	ABCA2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055199.2		-	ENST00000341511.6	Missense_Mutation	SNP	9 : 139911650 - 139911650 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	498	84
CEP170	9859	broad.mit.edu	37	1	243328278	243328278	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:243328278C>T	ENST00000366542.1	-	13	3035	c.2984G>A	c.(2983-2985)cGt>cAt	p.R995H	CEP170_ENST00000366543.1_Missense_Mutation_p.R897H|RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000366544.1_Missense_Mutation_p.R897H|RP11-261C10.4_ENST00000422938.1_RNA	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	995	Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			ATCTGTGGAACGACTTTTTGT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG,HIS/ARG,HIS/ARG	0,3752		0,0,1876	94	86	89		2690,2690,2984	4.9	1	1		89	1,8197		0,1,4098	no	missense,missense,missense	CEP170	NM_001042404.1,NM_001042405.1,NM_014812.2	29,29,29	0,1,5974	TT,TC,CC	NA	0.0122,0.0,0.0084	probably-damaging,probably-damaging,probably-damaging	897/1487,897/1461,995/1585	243328278	1,11949	1876	4099	5975	SO:0001583	missense			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702	9859	9859			28920	protein-coding gene	gene with protein product	KARP 1 binding protein, XRCC5 binding protein	613023	KIAA0470	KIAA0470	NA	15616186	Standard	NM_014812	NM_014812	NA	Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.2984G>A	1.37:g.243328278C>T	ENSP00000355500:p.Arg995His	NA	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	37	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.86|16.86	3.238361|3.238361	0.58886|0.58886	0.0|0.0	1.22E-4|1.22E-4	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543|ENST00000336415	T;T;T|.	0.48201|.	0.84;0.83;0.82|.	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	0.061588|.	0.64402|.	D|.	0.000002|.	T|T	0.66346|0.66346	0.2780|0.2780	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.85130|.	0.997;0.993;0.993;0.994|.	T|T	0.63834|0.63834	-0.6547|-0.6547	10|5	0.42905|.	T|.	0.14|.	-6.9291|-6.9291	17.0433|17.0433	0.86495|0.86495	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	958;897;897;995|.	B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79|.	.;.;.;CE170_HUMAN|.	H|I	995;897;897|959	ENSP00000355500:R995H;ENSP00000355502:R897H;ENSP00000355501:R897H|.	ENSP00000355500:R995H|.	R|V	-|-	2|1	0|0	CEP170|CEP170	241394901|241394901	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.998000|0.998000	0.95712|0.95712	5.281000|5.281000	0.65609|0.65609	2.248000|2.248000	0.74166|0.74166	0.555000|0.555000	0.69702|0.69702	CGT|GTT	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096178.2		-	ENST00000366542.1	Missense_Mutation	SNP	1 : 243328278 - 243328278 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	387	28
ZNF724P	440519	broad.mit.edu	37	19	23405909	23405909	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23405909T>A	ENST00000418100.1	-	4	1255	c.1138A>T	c.(1138-1140)Act>Tct	p.T380S						zinc finger protein 724, pseudogene	NA										endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						TGAGTAAGAGTTGAGGACACG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense					19p12	2014-02-14	2010-08-03		ENSG00000196081	ENSG00000196081	440519	440519			32460	pseudogene	pseudogene			zinc finger protein 724 pseudogene, zinc finger protein 724 (pseudogene)		NA		Standard		NR_045525	NA	Approved		uc021uru.1	A8MTY0	OTTHUMG00000183231	ENST00000418100.1:c.1138A>T	19.37:g.23405909T>A	ENSP00000413411:p.Thr380Ser	NA		37		.	.	.	.	.	.	.	.	.	.	T	0	-2.742811	0.00087	.	.	ENSG00000196081	ENST00000418100	T	0.07216	3.21	1.07	1.07	0.20283	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02342	0.0072	.	.	.	0.09310	N	1	B	0.31435	0.323	B	0.17722	0.019	T	0.39440	-0.9614	8	0.02654	T	1	.	5.0468	0.14488	0.0:0.0:0.3038:0.6962	.	380	A8MTY0	ZN724_HUMAN	S	380	ENSP00000413411:T380S	ENSP00000413411:T380S	T	-	1	0	ZNF724P	23197749	0.000000	0.05858	0.053000	0.19242	0.045000	0.14185	-4.059000	0.00303	0.402000	0.25451	0.391000	0.25812	ACT	ZNF724P-001	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000465743.1		-	ENST00000418100.1	Missense_Mutation	SNP	19 : 23405909 - 23405909 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	167	31
SBF2	81846	broad.mit.edu	37	11	10064430	10064430	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10064430G>A	ENST00000256190.8	-	3	377	c.240C>T	c.(238-240)tgC>tgT	p.C80C	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	80	UDENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TTAGGCATGAGCAGTAATGTC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	122	130			NA	NA	11		NA											NA				10064430		2201	4294	6495	SO:0001819	synonymous_variant			AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812	81846	81846		Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins, DENN/MADD domain containing, Pleckstrin homology (PH) domain containing	2135	protein-coding gene	gene with protein product	myotubularin related 13	607697	Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding), DENN/MADD domain containing 7B	CMT4B2	NA	10644431	Standard	NM_030962	NM_030962	NA	Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.240C>T	11.37:g.10064430G>A		NA	Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	37	CCDS31427.1																																																																																			SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386911.2		-	ENST00000256190.8	Silent	SNP	11 : 10064430 - 10064430 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	318	75
ANKRD46	157567	broad.mit.edu	37	8	101541971	101541971	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101541971G>A	ENST00000520311.1	-	3	894	c.91C>T	c.(91-93)Ctt>Ttt	p.L31F	ANKRD46_ENST00000519597.1_Missense_Mutation_p.L31F|ANKRD46_ENST00000520552.1_Missense_Mutation_p.L31F|ANKRD46_ENST00000519316.1_Missense_Mutation_p.L31F|ANKRD46_ENST00000335659.3_Missense_Mutation_p.L31F	NM_001270378.1	NP_001257307.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	31						integral to membrane				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			CTTTCCAAAAGCCGCTTGGAA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	78	80			NA	NA	8		NA											NA				101541971		2203	4300	6503	SO:0001583	missense			AB077205	CCDS6287.1, CCDS59109.1	8q22.3	2013-01-10					157567	157567		Ankyrin repeat domain containing	27229	protein-coding gene	gene with protein product					NA		Standard	NM_198401	NM_001270377	NA	Approved		uc003yjm.4	Q86W74		ENST00000520311.1:c.91C>T	8.37:g.101541971G>A	ENSP00000428388:p.Leu31Phe	NA	Q6P9B7	37	CCDS6287.1	.	.	.	.	.	.	.	.	.	.	G	33	5.222509	0.95139	.	.	ENSG00000186106	ENST00000520552;ENST00000335659;ENST00000519597;ENST00000520311;ENST00000519316;ENST00000358990;ENST00000524072;ENST00000523000;ENST00000521345	T;T;T;T;T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-0.29;-0.29	5.6	5.6	0.85130	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.89908	0.6851	M	0.75447	2.3	0.80722	D	1	D;D	0.69078	0.991;0.997	D;D	0.81914	0.934;0.995	D	0.90341	0.4359	10	0.72032	D	0.01	-18.5285	19.6107	0.95606	0.0:0.0:1.0:0.0	.	31;31	Q86W74-2;Q86W74	.;ANR46_HUMAN	F	31	ENSP00000429015:L31F;ENSP00000335287:L31F;ENSP00000430056:L31F;ENSP00000428388:L31F;ENSP00000430827:L31F;ENSP00000351881:L31F;ENSP00000430357:L31F;ENSP00000430800:L31F;ENSP00000429647:L31F	ENSP00000335287:L31F	L	-	1	0	ANKRD46	101611147	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.425000	0.80255	2.648000	0.89879	0.655000	0.94253	CTT	ANKRD46-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379902.1		-	ENST00000520311.1	Missense_Mutation	SNP	8 : 101541971 - 101541971 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	382	58
DUS3L	56931	broad.mit.edu	37	19	5785800	5785800	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5785800C>T	ENST00000309061.7	-	11	1661	c.1565G>A	c.(1564-1566)gGc>gAc	p.G522D	DUS3L_ENST00000320699.8_Missense_Mutation_p.G280D	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	522					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GAGCAGGGCGCCACTGTGGGA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	18	20			NA	NA	19		NA											NA				5785800		2193	4288	6481	SO:0001583	missense				CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994	56931	56931			26920	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_020175	NM_020175	NA	Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.1565G>A	19.37:g.5785800C>T	ENSP00000311977:p.Gly522Asp	NA	Q96HM5|Q9BSU4|Q9H877|Q9NPR1	37	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.549753	0.65311	.	.	ENSG00000141994	ENST00000309061;ENST00000320699	T;T	0.40756	1.02;1.02	4.26	4.26	0.50523	Aldolase-type TIM barrel (1);	0.057290	0.64402	D	0.000001	T	0.78666	0.4319	H	0.99211	4.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87769	0.2604	10	0.87932	D	0	-12.2158	14.212	0.65771	0.0:1.0:0.0:0.0	.	280;522	Q96G46-3;Q96G46	.;DUS3L_HUMAN	D	522;280	ENSP00000311977:G522D;ENSP00000315558:G280D	ENSP00000311977:G522D	G	-	2	0	DUS3L	5736800	1.000000	0.71417	0.606000	0.28943	0.306000	0.27790	7.411000	0.80078	1.947000	0.56498	0.555000	0.69702	GGC	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451870.2		-	ENST00000309061.7	Missense_Mutation	SNP	19 : 5785800 - 5785800 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	64	9
MITF	4286	broad.mit.edu	37	3	70014328	70014328	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:70014328T>C	ENST00000352241.4	+	10	1655	c.1492T>C	c.(1492-1494)Tcc>Ccc	p.S498P	MITF_ENST00000314557.6_Missense_Mutation_p.S391P|MITF_ENST00000448226.2_Missense_Mutation_p.S504P|MITF_ENST00000531774.1_Missense_Mutation_p.S335P|MITF_ENST00000472437.1_Missense_Mutation_p.S446P|MITF_ENST00000394351.3_Missense_Mutation_p.S397P|MITF_ENST00000328528.6_Missense_Mutation_p.S497P|MITF_ENST00000394355.2_Missense_Mutation_p.S473P|MITF_ENST00000314589.5_Missense_Mutation_p.S482P	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	504					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		TTCCTCAGTGTCCCCCGGAGC	0.532		NA	A		melanoma		Waardenburg syndrome type 2, Tietz syndrome							NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(29;269 969 31479 41502 42961)		Dom	yes		3	3p14.1	4286	microphthalmia-associated transcription factor	yes	E	0													103	102	102			NA	NA	3		NA											NA				70014328		2203	4300	6503	SO:0001583	missense				CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098	4286	4286		Basic helix-loop-helix proteins	7105	protein-coding gene	gene with protein product	homolog of mouse microphthalmia	156845	Waardenburg syndrome, type 2A	WS2A, WS2	NA	8069297, 7874167, 7951321	Standard	NM_198159	NM_198159	NA	Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000352241.4:c.1492T>C	3.37:g.70014328T>C	ENSP00000295600:p.Ser498Pro	NA	Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	37	CCDS43106.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.571044	0.86542	.	.	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000472437;ENST00000328528;ENST00000314589;ENST00000394355;ENST00000314557;ENST00000394351;ENST00000531774	T;T;T;T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.89670	0.6782	M	0.87827	2.91	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.998;0.994;0.996;0.996;0.994;0.991;0.998	D	0.90812	0.4702	9	.	.	.	.	16.5763	0.84648	0.0:0.0:0.0:1.0	.	446;397;391;473;482;497;498	E9PFN0;O75030-9;O75030-10;O75030-4;O75030-8;O75030-6;O75030-2	.;.;.;.;.;.;.	P	498;504;446;497;482;473;391;397;335	ENSP00000295600:S498P;ENSP00000391803:S504P;ENSP00000418845:S446P;ENSP00000327867:S497P;ENSP00000324443:S482P;ENSP00000377884:S473P;ENSP00000324246:S391P;ENSP00000377880:S397P;ENSP00000435909:S335P	.	S	+	1	0	MITF	70097018	1.000000	0.71417	1.000000	0.80357	0.533000	0.34776	8.040000	0.89188	2.317000	0.78254	0.459000	0.35465	TCC	MITF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313920.2		+	ENST00000352241.4	Missense_Mutation	SNP	3 : 70014328 - 70014328 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	480	94
UHRF1BP1	54887	broad.mit.edu	37	6	34803134	34803134	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34803134C>T	ENST00000192788.5	+	7	904	c.733C>T	c.(733-735)Ctg>Ttg	p.L245L	UHRF1BP1_ENST00000452449.2_Silent_p.L245L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	245										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GCTCTGGGTGCTGACTGACTC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	129	128			NA	NA	6		NA											NA				34803134		2110	4234	6344	SO:0001819	synonymous_variant			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060	54887	54887			21216	protein-coding gene	gene with protein product			chromosome 6 open reading frame 107	C6orf107	NA		Standard	NM_017754	NM_017754	NA	Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.733C>T	6.37:g.34803134C>T		NA	Q9NXE0	37	CCDS43455.1																																																																																			UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040260.1		+	ENST00000192788.5	Silent	SNP	6 : 34803134 - 34803134 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	452	80
COPA	1314	broad.mit.edu	37	1	160277034	160277034	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160277034C>T	ENST00000241704.7	-	14	1450	c.1221G>A	c.(1219-1221)gcG>gcA	p.A407A	COPA_ENST00000368069.3_Splice_Site_p.A407A	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	407					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCCCTTCAGGCGCTGAGAAGA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	114	116			NA	NA	1		NA											NA				160277034		2203	4300	6503	SO:0001630	splice_region_variant			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218	1314	1314		WD repeat domain containing, Endogenous ligands	2230	protein-coding gene	gene with protein product	proxenin, xenin	601924			NA	8647451	Standard	NM_004371	NM_004371	NA	Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.1220-1G>A	1.37:g.160277034C>T		NA	Q5T201|Q8IXZ9	37	CCDS1202.1																																																																																			COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080638.1	Silent	-	ENST00000241704.7	Splice_Site	SNP	1 : 160277034 - 160277034 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	679	190
TRAPPC8	22878	broad.mit.edu	37	18	29511465	29511465	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29511465T>G	ENST00000283351.4	-	2	514	c.179A>C	c.(178-180)aAt>aCt	p.N60T	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.N6T|TRAPPC8_ENST00000584876.1_5'UTR|TRAPPC8_ENST00000582513.1_Missense_Mutation_p.N60T	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	60					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTGAAGTTGATTATTAGGATC	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	106	104			NA	NA	18		NA											NA				29511465		2203	4300	6503	SO:0001583	missense			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339	22878	22878		Trafficking protein particle complex	29169	protein-coding gene	gene with protein product	general sporulation gene 1 homolog (S. cerevisiae)	614136	KIAA1012	KIAA1012	NA	10231032, 11230166	Standard	NM_014939	NM_014939	NA	Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.179A>C	18.37:g.29511465T>G	ENSP00000283351:p.Asn60Thr	NA	A0JP15|B3KME5|Q9H0L2	37	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	T	14.17	2.454065	0.43634	.	.	ENSG00000153339	ENST00000283351	T	0.08720	3.06	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.20861	0.0502	L	0.42245	1.32	0.58432	D	0.999994	P;D	0.65815	0.733;0.995	B;D	0.66196	0.316;0.942	T	0.00677	-1.1614	10	0.33141	T	0.24	.	16.4696	0.84102	0.0:0.0:0.0:1.0	.	60;60	Q6PCC9;Q9Y2L5	.;TPPC8_HUMAN	T	60	ENSP00000283351:N60T	ENSP00000283351:N60T	N	-	2	0	TRAPPC8	27765463	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.957000	0.76019	2.289000	0.77006	0.482000	0.46254	AAT	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255355.1		-	ENST00000283351.4	Missense_Mutation	SNP	18 : 29511465 - 29511465 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	516	92
SMG5	23381	broad.mit.edu	37	1	156247016	156247016	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156247016C>A	ENST00000361813.5	-	4	458	c.314G>T	c.(313-315)aGc>aTc	p.S105I	SMG5_ENST00000368267.5_Missense_Mutation_p.S105I	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	105					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TTCCAAAGTGCTCCGGCTGTG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	55	58			NA	NA	1		NA											NA				156247016		2203	4300	6503	SO:0001583	missense			AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952	23381	23381			24644	protein-coding gene	gene with protein product	EST1 telomerase component homolog B (S. cerevisiae)	610962	smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)		NA	12676087, 12699629	Standard	NM_015327	NM_015327	NA	Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.314G>T	1.37:g.156247016C>A	ENSP00000355261:p.Ser105Ile	NA	D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	37	CCDS1137.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916478	0.92249	.	.	ENSG00000198952	ENST00000361813;ENST00000368267	T;T	0.17691	2.26;2.26	5.92	5.92	0.95590	Telomerase activating protein Est1 (1);	0.000000	0.85682	D	0.000000	T	0.19287	0.0463	L	0.43152	1.355	0.80722	D	1	P	0.39737	0.685	P	0.48901	0.594	T	0.00359	-1.1791	10	0.66056	D	0.02	-7.4881	18.8866	0.92381	0.0:1.0:0.0:0.0	.	105	Q9UPR3	SMG5_HUMAN	I	105	ENSP00000355261:S105I;ENSP00000357250:S105I	ENSP00000355261:S105I	S	-	2	0	SMG5	154513640	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.594000	0.82698	2.797000	0.96272	0.555000	0.69702	AGC	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046308.1		-	ENST00000361813.5	Missense_Mutation	SNP	1 : 156247016 - 156247016 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	136	21
ATAD5	79915	broad.mit.edu	37	17	29196652	29196652	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29196652G>T	ENST00000321990.4	+	14	3973	c.3595G>T	c.(3595-3597)Ggc>Tgc	p.G1199C		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1199					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CTACTACATAGGCAAGTCACC	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	70	70			NA	NA	17		NA											NA				29196652		2203	4300	6503	SO:0001583	missense				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208	79915	79915		ATPases / AAA-type	25752	protein-coding gene	gene with protein product	enhanced level of genomic instability 1 homolog (S. cerevisiae)	609534	chromosome 17 open reading frame 41	C17orf41	NA	15983387, 11468690, 19755857	Standard	NM_024857	NM_024857	NA	Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.3595G>T	17.37:g.29196652G>T	ENSP00000313171:p.Gly1199Cys	NA	Q05DH0|Q69YR6|Q9H9I1	37	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.548088	0.27652	.	.	ENSG00000176208	ENST00000321990	D	0.95272	-3.66	5.49	4.52	0.55395	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.172820	0.50627	D	0.000112	D	0.93831	0.8027	L	0.29908	0.895	0.37494	D	0.916487	D;D	0.76494	0.999;0.999	D;D	0.71414	0.934;0.973	D	0.93903	0.7190	10	0.72032	D	0.01	.	6.863	0.24077	0.2967:0.0:0.7033:0.0	.	1199;1199	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	C	1199	ENSP00000313171:G1199C	ENSP00000313171:G1199C	G	+	1	0	ATAD5	26220778	0.946000	0.32159	0.940000	0.37924	0.962000	0.63368	1.684000	0.37649	1.317000	0.45149	0.561000	0.74099	GGC	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256206.2		+	ENST00000321990.4	Missense_Mutation	SNP	17 : 29196652 - 29196652 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	373	68
IRF1	3659	broad.mit.edu	37	5	131821409	131821409	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131821409C>T	ENST00000245414.4	-	8	926		c.e8-1		IRF1_ENST00000405885.2_Splice_Site	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	NA					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		TCTGTTGTAGCTGTGGATGGG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													254	185	208			NA	NA	5		NA											NA				131821409		2203	4300	6503	SO:0001630	splice_region_variant				CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347	3659	3659			6116	protein-coding gene	gene with protein product	interferon regulatory factor-1	147575			NA	2726461, 1680796	Standard	NM_002198	NM_002198	NA	Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.668-1G>A	5.37:g.131821409C>T		NA	Q96GG7	37	CCDS4155.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609289	0.66558	.	.	ENSG00000125347	ENST00000245414;ENST00000405885;ENST00000437654	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3525	0.43945	0.0:0.907:0.0:0.093	.	.	.	.	.	-1	.	.	.	-	.	.	IRF1	131849308	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	1.691000	0.37721	2.826000	0.97356	0.655000	0.94253	.	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132340.1	Intron	-	ENST00000245414.4	Splice_Site	SNP	5 : 131821409 - 131821409 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	396	58
HYKK	123688	broad.mit.edu	37	15	78805579	78805579	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78805579T>C	ENST00000566332.1	+	2	209	c.149T>C	c.(148-150)gTc>gCc	p.V50A	HYKK_ENST00000388988.4_Missense_Mutation_p.V50A|HYKK_ENST00000360519.3_Missense_Mutation_p.V50A|HYKK_ENST00000569878.1_Missense_Mutation_p.V50A|HYKK_ENST00000563233.1_Missense_Mutation_p.V50A|HYKK_ENST00000408962.2_Missense_Mutation_p.V50A					hydroxylysine kinase	NA											NA						AACTTTCATGTCTACGTTTCA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	100	101			NA	NA	15		NA											NA				78805579		2000	4175	6175	SO:0001583	missense			BC132753, BC144383, BM045979	CCDS42063.1, CCDS45318.1	15q25.1	2013-06-11	2013-06-11	2013-06-11	ENSG00000188266	ENSG00000188266	123688	123688	2.7.1.81		34403	protein-coding gene	gene with protein product	5-hydroxylysine kinase	614681	aminoglycoside phosphotransferase domain containing 1	AGPHD1	NA	18780872, 22241472	Standard	NM_001013619	NM_001013619	NA	Approved	LOC123688	uc010unc.2	A2RU49		ENST00000566332.1:c.149T>C	15.37:g.78805579T>C	ENSP00000457154:p.Val50Ala	NA		37		.	.	.	.	.	.	.	.	.	.	T	19.55	3.848193	0.71603	.	.	ENSG00000188266	ENST00000408962;ENST00000388988;ENST00000360519	T;T;T	0.35789	1.29;1.29;1.29	5.83	5.83	0.93111	Aminoglycoside phosphotransferase (1);Protein kinase-like domain (1);	0.150752	0.45361	D	0.000366	T	0.60766	0.2294	M	0.78916	2.43	0.39944	D	0.974455	B;D	0.67145	0.416;0.996	P;D	0.65140	0.507;0.932	T	0.67436	-0.5671	10	0.87932	D	0	-17.4498	16.1968	0.82036	0.0:0.0:0.0:1.0	.	50;50	A2RU49;A2RU49-3	AGPD1_HUMAN;.	A	50	ENSP00000386197:V50A;ENSP00000373640:V50A;ENSP00000353710:V50A	ENSP00000353710:V50A	V	+	2	0	AGPHD1	76592634	1.000000	0.71417	0.283000	0.24790	0.562000	0.35680	6.893000	0.75649	2.225000	0.72522	0.533000	0.62120	GTC	HYKK-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000435833.1		+	ENST00000566332.1	Missense_Mutation	SNP	15 : 78805579 - 78805579 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	487	102
SERHL2	253190	broad.mit.edu	37	22	42967184	42967184	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42967184C>T	ENST00000327678.5	+	10	808	c.706C>T	c.(706-708)Ctg>Ttg	p.L236L	SERHL2_ENST00000407614.4_Silent_p.L56L|RRP7B_ENST00000357802.2_RNA|SERHL2_ENST00000340239.4_Silent_p.S197S|SERHL2_ENST00000335879.5_Silent_p.L172L	NM_014509.3	NP_055324.2	Q9H4I8	SEHL2_HUMAN	serine hydrolase-like 2	236						perinuclear region of cytoplasm|peroxisome	hydrolase activity			breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						CATCAGGAAGCTGCAGGCCCA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	104	113			NA	NA	22		NA											NA				42967184		2203	4300	6503	SO:0001819	synonymous_variant				CCDS14037.1, CCDS63498.1	22q13	2005-08-09			ENSG00000183569	ENSG00000183569	253190	253190			29446	protein-coding gene	gene with protein product					NA		Standard	NM_014509	NM_014509	NA	Approved		uc003bcr.3	Q9H4I8	OTTHUMG00000150892	ENST00000327678.5:c.706C>T	22.37:g.42967184C>T		NA	B1AHE9|B1AHF0|Q0VDJ1|Q5H973|Q9BR29|Q9BR30|Q9Y3I9	37	CCDS14037.1																																																																																			SERHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320454.1		+	ENST00000327678.5	Silent	SNP	22 : 42967184 - 42967184 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	267	56
MYH7B	57644	broad.mit.edu	37	20	33575697	33575697	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33575697G>A	ENST00000262873.7	+	16	1614	c.1522G>A	c.(1522-1524)Gct>Act	p.A508T		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	466	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TCTGGACATCGCTGGGTTTGA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA	1,4313		0,1,2156	54	63	60		1522	3.7	1	20		60	0,8572		0,0,4286	no	missense	MYH7B	NM_020884.3	58	0,1,6442	AA,AG,GG	NA	0.0,0.0232,0.0078	probably-damaging	508/1984	33575697	1,12885	2157	4286	6443	SO:0001583	missense			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814	57644	57644		Myosins / Myosin superfamily : Class II	15906	protein-coding gene	gene with protein product		609928	myosin, heavy polypeptide 7B, cardiac muscle, beta		NA	11919279, 15014174	Standard	NM_020884	XM_006723839	NA	Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.1522G>A	20.37:g.33575697G>A	ENSP00000262873:p.Ala508Thr	NA	Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	37	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814580	0.70912	2.32E-4	0.0	ENSG00000078814	ENST00000262873	T	0.72505	-0.66	3.74	3.74	0.42951	Myosin head, motor domain (3);	0.000000	0.35708	N	0.003031	D	0.84447	0.5474	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85621	0.1264	10	0.42905	T	0.14	.	16.8503	0.85992	0.0:0.0:1.0:0.0	.	466	A7E2Y1	MYH7B_HUMAN	T	508	ENSP00000262873:A508T	ENSP00000262873:A508T	A	+	1	0	MYH7B	33039358	1.000000	0.71417	0.975000	0.42487	0.978000	0.69477	9.657000	0.98554	2.390000	0.81377	0.561000	0.74099	GCT	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078833.2		+	ENST00000262873.7	Missense_Mutation	SNP	20 : 33575697 - 33575697 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	499	76
TGFBR2	7048	broad.mit.edu	37	3	30729950	30729950	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:30729950G>A	ENST00000295754.5	+	6	1853	c.1471G>A	c.(1471-1473)Gtg>Atg	p.V491M	TGFBR2_ENST00000359013.4_Missense_Mutation_p.V516M	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	491	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GAAGGACAACGTGTTGAGAGA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	115	118			NA	NA	3		NA											NA				30729950		2203	4300	6503	SO:0001583	missense				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513	7048	7048			11773	protein-coding gene	gene with protein product		190182	transforming growth factor, beta receptor II (70-80kD)	MFS2	NA	1319842, 15235604	Standard		NM_001024847	NA	Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1471G>A	3.37:g.30729950G>A	ENSP00000295754:p.Val491Met	NA	B4DTV5|Q15580|Q6DKT6|Q99474	37	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	G	33	5.232553	0.95207	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	T;T	0.67345	-0.26;-0.26	5.38	5.38	0.77491	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84534	0.5493	M	0.85299	2.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86550	0.1834	10	0.87932	D	0	.	19.4941	0.95064	0.0:0.0:1.0:0.0	.	491;516	P37173;D2JYI1	TGFR2_HUMAN;.	M	491;516;321	ENSP00000295754:V491M;ENSP00000351905:V516M	ENSP00000295754:V491M	V	+	1	0	TGFBR2	30704954	1.000000	0.71417	0.802000	0.32245	0.993000	0.82548	9.577000	0.98196	2.682000	0.91365	0.591000	0.81541	GTG	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252994.2		+	ENST00000295754.5	Missense_Mutation	SNP	3 : 30729950 - 30729950 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	78
WBP4	11193	broad.mit.edu	37	13	41646932	41646932	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:41646932C>T	ENST00000379487.3	+	7	901	c.501C>T	c.(499-501)acC>acT	p.T167T	WBP4_ENST00000542082.1_Silent_p.T146T	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN	WW domain binding protein 4	167	WW 2.				nuclear mRNA cis splicing, via spliceosome	nuclear speck|spliceosomal complex	nucleic acid binding|proline-rich region binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		CAGTGAAGACCGTTTGGGTAG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	138	138			NA	NA	13		NA											NA				41646932		2203	4300	6503	SO:0001819	synonymous_variant			AF071185	CCDS9375.1	13q13.3	2012-10-17	2012-10-17		ENSG00000120688	ENSG00000120688	11193	11193			12739	protein-coding gene	gene with protein product	formin binding protein 21	604981			NA	9724750	Standard	NM_007187	NM_007187	NA	Approved	FBP21, MGC117310	uc001uxt.3	O75554	OTTHUMG00000016784	ENST00000379487.3:c.501C>T	13.37:g.41646932C>T		NA	Q32P29	37	CCDS9375.1																																																																																			WBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044655.2		+	ENST00000379487.3	Silent	SNP	13 : 41646932 - 41646932 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	459	51
PARP6	56965	broad.mit.edu	37	15	72546819	72546819	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72546819T>G	ENST00000569795.1	-	15	1855	c.1168A>C	c.(1168-1170)Atg>Ctg	p.M390L	PARP6_ENST00000287196.9_Missense_Mutation_p.M390L|PARP6_ENST00000260376.7_Missense_Mutation_p.M390L|PARP6_ENST00000413097.2_5'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	390							NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CGAATAGACATCACACTATCC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	110	109			NA	NA	15		NA											NA				72546819		1897	4114	6011	SO:0001583	missense			AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817	56965	56965		Poly (ADP-ribose) polymerases	26921	protein-coding gene	gene with protein product					NA	15273990	Standard	NM_020214	XM_005254557	NA	Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.1168A>C	15.37:g.72546819T>G	ENSP00000456348:p.Met390Leu	NA	Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	37	CCDS10241.2	.	.	.	.	.	.	.	.	.	.	T	12.95	2.092446	0.36952	.	.	ENSG00000137817	ENST00000419739;ENST00000287196;ENST00000260376;ENST00000413097;ENST00000544520	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.43853	0.1266	N	0.22421	0.69	0.58432	D	0.999998	B;B;B	0.18863	0.0;0.031;0.0	B;B;B	0.14023	0.0;0.01;0.0	T	0.29882	-0.9997	9	0.23891	T	0.37	-33.475	14.8922	0.70617	0.0:0.0:0.0:1.0	.	390;390;322	Q0VDG0;Q2NL67;A0PJ50	.;PARP6_HUMAN;.	L	390;390;390;235;235	.	ENSP00000260376:M390L	M	-	1	0	PARP6	70333873	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.375000	0.79646	2.107000	0.64212	0.460000	0.39030	ATG	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257315.2		-	ENST00000569795.1	Missense_Mutation	SNP	15 : 72546819 - 72546819 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	259	37
C10orf55	414236	broad.mit.edu	37	10	75671996	75671996	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75671996G>A	ENST00000409178.1	-	4	347	c.7C>T	c.(7-9)Ctc>Ttc	p.L3F	PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372764.3_Missense_Mutation_p.G37R|C10orf55_ENST00000412307.2_Missense_Mutation_p.L3F|PLAU_ENST00000372762.4_Intron|PLAU_ENST00000446342.1_Missense_Mutation_p.G20R	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55	3										endometrium(1)	1	Prostate(51;0.0112)					TCTAAATGGAGGAACATGTGT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	98	102			NA	NA	10		NA											NA				75671996		2203	4300	6503	SO:0001583	missense				CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047	414236	414236			31008	protein-coding gene	gene with protein product					NA		Standard	NM_001001791	NM_001001791	NA	Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.7C>T	10.37:g.75671996G>A	ENSP00000386960:p.Leu3Phe	NA	Q3KRG4|Q8NAK4	37	CCDS53541.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.07|19.07	3.756491|3.756491	0.69648|0.69648	.|.	.|.	ENSG00000122861|ENSG00000222047	ENST00000446342;ENST00000372764|ENST00000409178;ENST00000412307	D;D|.	0.88509|.	-2.39;-2.39|.	5.84|5.84	5.84|5.84	0.93424|0.93424	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.46034|0.46034	0.1372|0.1372	N|N	0.08118|0.08118	0|0	0.30985|0.30985	N|N	0.722046|0.722046	D;D;D|D	0.89917|0.76494	1.0;1.0;1.0|0.999	D;D;D|D	0.91635|0.72982	0.999;0.999;0.998|0.979	T|T	0.54682|0.54682	-0.8257|-0.8257	10|8	0.87932|0.87932	D|D	0|0	.|.	15.6365|15.6365	0.76958|0.76958	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	20;37;37|3	E7ET40;B2R7F2;P00749|Q5SWW7	.;.;UROK_HUMAN|CJ055_HUMAN	R|F	20;37|3	ENSP00000388474:G20R;ENSP00000361850:G37R|.	ENSP00000361850:G37R|ENSP00000386960:L3F	G|L	+|-	1|1	0|0	PLAU|C10orf55	75342002|75342002	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.267000|0.267000	0.26476|0.26476	5.921000|5.921000	0.70028|0.70028	2.768000|2.768000	0.95171|0.95171	0.491000|0.491000	0.48974|0.48974	GGA|CTC	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048746.1		-	ENST00000409178.1	Missense_Mutation	SNP	10 : 75671996 - 75671996 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	351	55
SVEP1	79987	broad.mit.edu	37	9	113312321	113312321	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113312321A>G	ENST00000374469.1	-	2	789	c.526T>C	c.(526-528)Tcc>Ccc	p.S176P	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000401783.2_Missense_Mutation_p.S199P|SVEP1_ENST00000374461.1_Missense_Mutation_p.S176P|SVEP1_ENST00000302728.8_Missense_Mutation_p.S199P			Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	199	VWFA.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCCCCATTGGAATATCCATCA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	176	177			NA	NA	9		NA											NA				113312321		1908	4128	6036	SO:0001583	missense			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124	79987	79987			15985	protein-coding gene	gene with protein product		611691	chromosome 9 open reading frame 13	C9orf13	NA		Standard		NM_153366	NA	Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000374469.1:c.526T>C	9.37:g.113312321A>G	ENSP00000363593:p.Ser176Pro	NA	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	37		.	.	.	.	.	.	.	.	.	.	A	25.2	4.615636	0.87359	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	5.5	5.5	0.81552	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.91700	0.7376	M	0.71920	2.185	0.46437	D	0.999046	D;D;D	0.89917	0.99;0.971;1.0	P;P;D	0.85130	0.855;0.9;0.997	D	0.92626	0.6112	10	0.87932	D	0	.	15.897	0.79341	1.0:0.0:0.0:0.0	.	199;199;199	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	P	199;176;199;176	ENSP00000384917:S199P;ENSP00000363593:S176P;ENSP00000304118:S199P;ENSP00000363585:S176P	ENSP00000304118:S199P	S	-	1	0	SVEP1	112352142	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.910000	0.92685	2.209000	0.71365	0.460000	0.39030	TCC	SVEP1-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000053622.1		-	ENST00000374469.1	Missense_Mutation	SNP	9 : 113312321 - 113312321 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	741	113
TRRAP	8295	broad.mit.edu	37	7	98550854	98550854	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98550854C>A	ENST00000446306.3	+	37	5511	c.5450C>A	c.(5449-5451)gCc>gAc	p.A1817D	TRRAP_ENST00000359863.4_Missense_Mutation_p.A1836D|TRRAP_ENST00000355540.3_Missense_Mutation_p.A1818D			Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1836					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTGCAGTACGCCACGCTGCTG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	89	95			NA	NA	7		NA											NA				98550854		2203	4300	6503	SO:0001583	missense			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367	8295	8295			12347	protein-coding gene	gene with protein product		603015			NA	9708738, 9885574	Standard	NM_003496	NM_003496	NA	Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000446306.3:c.5450C>A	7.37:g.98550854C>A	ENSP00000403708:p.Ala1817Asp	NA	A4D265|O75218|Q9Y631|Q9Y6H4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.1|28.1	4.891159|4.891159	0.91889|0.91889	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.65732|.	-0.17;-0.17|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.055467|.	0.64402|.	D|.	0.000001|.	T|T	0.74535|0.74535	0.3729|0.3729	L|L	0.61218|0.61218	1.895|1.895	0.80722|0.80722	D|D	1|1	P;P;P|.	0.40398|.	0.688;0.716;0.561|.	B;B;B|.	0.36030|.	0.216;0.116;0.116|.	T|T	0.70673|0.70673	-0.4807|-0.4807	10|5	0.66056|.	D|.	0.02|.	.|.	20.1184|20.1184	0.97949|0.97949	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1818;1557;1836|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	D|T	1836;1818;1816|1558	ENSP00000352925:A1836D;ENSP00000347733:A1818D|.	ENSP00000347733:A1818D|.	A|P	+|+	2|1	0|0	TRRAP|TRRAP	98388790|98388790	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.818000|7.818000	0.86416|0.86416	2.769000|2.769000	0.95229|0.95229	0.655000|0.655000	0.94253|0.94253	GCC|CCA	TRRAP-004	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000317981.3		+	ENST00000446306.3	Missense_Mutation	SNP	7 : 98550854 - 98550854 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	334	66
KLHDC7A	127707	broad.mit.edu	37	1	18808833	18808833	+	Missense_Mutation	SNP	C	C	T	rs77562571	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18808833C>T	ENST00000400664.1	+	1	1410	c.1358C>T	c.(1357-1359)gCg>gTg	p.A453V		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	453						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTGAAAGAGGCGGCCTACAAG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	61	60			NA	NA	1		NA											NA				18808833		2203	4300	6503	SO:0001583	missense			AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023	127707	127707			26791	protein-coding gene	gene with protein product					NA		Standard	NM_152375	NM_152375	NA	Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1358C>T	1.37:g.18808833C>T	ENSP00000383505:p.Ala453Val	NA	Q8N8W6	37	CCDS185.2	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588771	0.86851	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.78816	-1.21	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.86636	0.5980	M	0.61703	1.905	0.51233	D	0.999913	D;D	0.89917	1.0;1.0	D;D	0.76071	0.97;0.987	D	0.87405	0.2372	10	0.62326	D	0.03	.	17.5606	0.87906	0.0:1.0:0.0:0.0	.	390;453	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	V	453;390	ENSP00000383505:A453V	ENSP00000383505:A453V	A	+	2	0	KLHDC7A	18681420	0.998000	0.40836	0.963000	0.40424	0.744000	0.42396	3.752000	0.55172	2.486000	0.83907	0.491000	0.48974	GCG	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006923.3		+	ENST00000400664.1	Missense_Mutation	SNP	1 : 18808833 - 18808833 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	553	91
ZNF862	643641	broad.mit.edu	37	7	149559262	149559262	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149559262T>C	ENST00000223210.4	+	7	3258	c.3013T>C	c.(3013-3015)Ttc>Ctc	p.F1005L	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	1005					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GCACCTCCCGTTCTCCATGCT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	52	50			NA	NA	7		NA											NA				149559262		2081	4206	6287	SO:0001583	missense			AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479	643641	643641		Zinc fingers, C2H2-type, -	34519	protein-coding gene	gene with protein product					NA		Standard	NM_001099220	NM_001099220	NA	Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.3013T>C	7.37:g.149559262T>C	ENSP00000223210:p.Phe1005Leu	NA	A0AUL8	37	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	T	11.72	1.723757	0.30593	.	.	ENSG00000106479	ENST00000223210	T	0.01106	5.33	5.39	4.24	0.50183	HAT dimerisation (1);	0.109105	0.41396	N	0.000896	T	0.01905	0.0060	M	0.62723	1.935	0.29944	N	0.820842	B	0.20887	0.049	B	0.26693	0.072	T	0.10776	-1.0615	10	0.48119	T	0.1	.	8.0079	0.30336	0.0:0.0917:0.0:0.9083	.	1005	O60290	ZN862_HUMAN	L	1005	ENSP00000223210:F1005L	ENSP00000223210:F1005L	F	+	1	0	ZNF862	149190195	0.976000	0.34144	0.770000	0.31555	0.858000	0.48976	2.150000	0.42254	0.897000	0.36392	0.533000	0.62120	TTC	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350165.1		+	ENST00000223210.4	Missense_Mutation	SNP	7 : 149559262 - 149559262 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	303	46
RP11-108K14.8	0	broad.mit.edu	37	10	135233564	135233564	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135233564G>A	ENST00000468317.2	+	12	1170	c.915G>A	c.(913-915)gcG>gcA	p.A305A	MTG1_ENST00000477902.2_Silent_p.A259A|MTG1_ENST00000317502.6_Silent_p.A300A						NA											NA						ACTATCCTGCGGCAGCCCGTG	0.627		NA											G	2	9e-04	NA	NA	2184	0.0035	1	,	,	NA	3e-04	NA	NA	NA	9e-04	1	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				0								G		1,4405	2.1+/-5.4	0,1,2202	118	92	101		900	-10	0	10		101	0,8600		0,0,4300	no	coding-synonymous	MTG1	NM_138384.2		0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077		300/335	135233564	1,13005	2203	4300	6503	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000468317.2:c.915G>A	10.37:g.135233564G>A		NA		37																																																																																				RP11-108K14.8-001	PUTATIVE	non_canonical_U12|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000390432.1		+	ENST00000468317.2	Silent	SNP	10 : 135233564 - 135233564 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	634	115
TRIM49C	642612	broad.mit.edu	37	11	89774511	89774511	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89774511G>T	ENST00000448984.1	+	8	1481	c.1152G>T	c.(1150-1152)aaG>aaT	p.K384N	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN	tripartite motif containing 49C	384	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(3)|kidney(1)|lung(4)	8						GGTGTATTAAGAATGACATTC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			BC126470	CCDS53694.1	11q14.3	2014-02-17	2012-05-18	2012-05-18	ENSG00000204449	ENSG00000204449	642612	642612		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	38877	protein-coding gene	gene with protein product			tripartite motif containing 49-like 2	TRIM49L2	NA		Standard	NM_001195234	NM_001195234	NA	Approved		uc010rua.2	P0CI26		ENST00000448984.1:c.1152G>T	11.37:g.89774511G>T	ENSP00000388299:p.Lys384Asn	NA	A0AVR7|A0AVR9|Q6DJV1|Q9NS80	37	CCDS53694.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.379869	0.24944	.	.	ENSG00000204449	ENST00000448984	T	0.59224	0.28	1.02	0.0256	0.14146	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.61299	0.2336	L	0.45285	1.41	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.48293	-0.9048	8	.	.	.	.	3.3892	0.07282	0.2968:0.0:0.7032:0.0	.	384	P0CI26	T49L2_HUMAN	N	384	ENSP00000388299:K384N	.	K	+	3	2	TRIM49L2	89414159	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.184000	0.03076	0.021000	0.15133	0.298000	0.19748	AAG	TRIM49C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395455.1		+	ENST00000448984.1	Missense_Mutation	SNP	11 : 89774511 - 89774511 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	566	93
CDK10	8558	broad.mit.edu	37	16	89758865	89758865	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89758865C>T	ENST00000331006.8	+	5	2026	c.285C>T	c.(283-285)tgC>tgT	p.C95C	CDK10_ENST00000353379.7_Silent_p.C142C|CDK10_ENST00000505473.1_Silent_p.C71C			Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	142	Protein kinase.				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		AGGTCAAGTGCATCGTGCTGC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	74	78			NA	NA	16		NA											NA				89758865		2198	4300	6498	SO:0001819	synonymous_variant			L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324	8558	8558		Cyclin-dependent kinases	1770	protein-coding gene	gene with protein product		603464	cyclin-dependent kinase (CDC2-like) 10		NA	8208557, 8084611	Standard		NM_052988	NA	Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000331006.8:c.285C>T	16.37:g.89758865C>T		NA	A8MXU6|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	37																																																																																				CDK10-016	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000423068.1		+	ENST00000331006.8	Silent	SNP	16 : 89758865 - 89758865 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	463	110
PLD2	5338	broad.mit.edu	37	17	4712837	4712837	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4712837G>A	ENST00000263088.6	+	7	736	c.605G>A	c.(604-606)cGc>cAc	p.R202H	PLD2_ENST00000572940.1_Missense_Mutation_p.R202H	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	202					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GACTTGGGCCGCAAAGGACTG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	59	58			NA	NA	17		NA											NA				4712837		2203	4300	6503	SO:0001583	missense			AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	5338	5338	3.1.4.4		9068	protein-coding gene	gene with protein product	choline phosphatase 2	602384			NA	9858823, 9582313	Standard	NM_002663	NM_002663	NA	Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.605G>A	17.37:g.4712837G>A	ENSP00000263088:p.Arg202His	NA	O43540|O43579|O43580|Q6PGR0|Q96BY3	37	CCDS11057.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.940910	0.34283	.	.	ENSG00000129219	ENST00000263088	T	0.06449	3.3	5.1	0.825	0.18824	.	0.567307	0.19886	N	0.103853	T	0.02610	0.0079	N	0.04508	-0.205	0.19775	N	0.99996	B;B;B	0.21225	0.053;0.041;0.01	B;B;B	0.12156	0.001;0.007;0.002	T	0.48151	-0.9060	10	0.15499	T	0.54	-1.3847	9.5998	0.39596	0.0:0.495:0.426:0.079	.	59;202;202	B7Z905;O14939-2;O14939	.;.;PLD2_HUMAN	H	202	ENSP00000263088:R202H	ENSP00000263088:R202H	R	+	2	0	PLD2	4659801	0.761000	0.28439	0.852000	0.33557	0.645000	0.38454	1.825000	0.39081	0.056000	0.16144	-0.311000	0.09066	CGC	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207561.3		+	ENST00000263088.6	Missense_Mutation	SNP	17 : 4712837 - 4712837 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	441	37
PORCN	64840	broad.mit.edu	37	X	48370880	48370880	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48370880C>T	ENST00000359882.4	+	5	719	c.540C>T	c.(538-540)gtC>gtT	p.V180V	PORCN_ENST00000326194.6_Silent_p.V180V|PORCN_ENST00000367574.4_Silent_p.V109V|PORCN_ENST00000537758.1_Silent_p.V180V|PORCN_ENST00000355092.3_Silent_p.V180V|PORCN_ENST00000355961.4_Silent_p.V180V|PORCN_ENST00000361988.3_Silent_p.V180V			Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	180					Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TACAAGCTGTCCAAGGCCGCC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	35	39			NA	NA	X		NA											NA				48370880		2203	4299	6502	SO:0001819	synonymous_variant			AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312	64840	64840			17652	protein-coding gene	gene with protein product		300651	dermal hypoplasia, focal	DHOF	NA	10866835, 12034504, 17546030	Standard	NM_022825	NM_203474	NA	Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000359882.4:c.540C>T	X.37:g.48370880C>T		NA	B2RBN8|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	37	CCDS14298.1																																																																																			PORCN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060707.2		+	ENST00000359882.4	Silent	SNP	X : 48370880 - 48370880 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	60	19
TMX2	51075	broad.mit.edu	37	11	57506148	57506148	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57506148C>T	ENST00000278422.4	+	5	466	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	TMX2-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Missense_Mutation_p.R114W	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	152	Thioredoxin.				cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						GGAACTAGAACGGGACAAGAG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	145	149			NA	NA	11		NA											NA				57506148		2201	4296	6497	SO:0001583	missense			AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593	51075	51075		Protein disulfide isomerases	30739	protein-coding gene	gene with protein product	protein disulfide isomerase family A, member 12		thioredoxin domain containing 14	TXNDC14	NA	12670024	Standard	NM_015959	NM_015959	NA	Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.454C>T	11.37:g.57506148C>T	ENSP00000278422:p.Arg152Trp	NA	B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	37	CCDS7967.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.275613	0.40294	.	.	ENSG00000213593	ENST00000378312;ENST00000278422	T;T	0.03441	3.93;3.93	5.95	5.03	0.67393	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.209158	0.39407	U	0.001366	T	0.11965	0.0291	M	0.67625	2.065	0.53688	D	0.999975	D;D	0.67145	0.993;0.996	P;P	0.58928	0.788;0.848	T	0.00453	-1.1730	10	0.87932	D	0	-11.7709	9.7442	0.40437	0.1413:0.7884:0.0:0.0704	.	114;152	Q9Y320-2;Q9Y320	.;TMX2_HUMAN	W	114;152	ENSP00000367562:R114W;ENSP00000278422:R152W	ENSP00000278422:R152W	R	+	1	2	TMX2	57262724	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.331000	0.33793	1.495000	0.48549	0.655000	0.94253	CGG	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393708.1		+	ENST00000278422.4	Missense_Mutation	SNP	11 : 57506148 - 57506148 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	589	89
RREB1	6239	broad.mit.edu	37	6	7230407	7230407	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7230407C>T	ENST00000379938.2	+	10	2612	c.2075C>T	c.(2074-2076)aCg>aTg	p.T692M	RREB1_ENST00000334984.6_Missense_Mutation_p.T692M|RREB1_ENST00000349384.6_Missense_Mutation_p.T692M|RREB1_ENST00000379933.3_Missense_Mutation_p.T692M	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	692					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CACCTGCGCACGCACAGTGGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	58	60			NA	NA	6		NA											NA				7230407		2203	4300	6503	SO:0001583	missense			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782	6239	6239		Zinc fingers, C2H2-type	10449	protein-coding gene	gene with protein product	hindsight homolog (drosophila)	602209			NA	9367691, 18394891	Standard		NM_001003698	NA	Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000379938.2:c.2075C>T	6.37:g.7230407C>T	ENSP00000369270:p.Thr692Met	NA	A2RRF5|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	37	CCDS34335.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.500948	0.64298	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08	5.54	4.67	0.58626	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000007	T	0.25606	0.0623	L	0.39020	1.185	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.994	T	0.03597	-1.1021	10	0.54805	T	0.06	-40.0095	14.2575	0.66062	0.0:0.9293:0.0:0.0707	.	692;692;692	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	M	692	ENSP00000369265:T692M;ENSP00000369270:T692M;ENSP00000305560:T692M;ENSP00000335574:T692M;ENSP00000419511:T692M	ENSP00000335574:T692M	T	+	2	0	RREB1	7175406	1.000000	0.71417	0.959000	0.39883	0.996000	0.88848	4.656000	0.61483	1.570000	0.49709	0.655000	0.94253	ACG	RREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039774.3		+	ENST00000379938.2	Missense_Mutation	SNP	6 : 7230407 - 7230407 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	339	49
NEB	4703	broad.mit.edu	37	2	152512680	152512680	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152512680C>T	ENST00000604864.1	-	47	6481	c.6482G>A	c.(6481-6483)cGc>cAc	p.R2161H	NEB_ENST00000409198.1_Missense_Mutation_p.R2161H|NEB_ENST00000172853.10_Missense_Mutation_p.R2161H|NEB_ENST00000603639.1_Missense_Mutation_p.R2161H|NEB_ENST00000427231.2_Missense_Mutation_p.R2161H|NEB_ENST00000397345.3_Missense_Mutation_p.R2161H			P20929	NEBU_HUMAN	nebulin	2161					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACTCTGTATGCGATTCATATT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG,HIS/ARG,HIS/ARG	1,4107		0,1,2053	370	360	364		6482,6482,6482	-7.7	0.6	2		364	0,8404		0,0,4202	no	missense,missense,missense	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	29,29,29	0,1,6255	TT,TC,CC	NA	0.0,0.0243,0.0080	benign,benign,benign	2161/8526,2161/8526,2161/6670	152512680	1,12511	2054	4202	6256	SO:0001583	missense			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091	4703	4703			7720	protein-coding gene	gene with protein product	nemaline myopathy type 2	161650		NEM2	NA	10051637, 9359044	Standard	NM_004543	NM_001164507	NA	Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000604864.1:c.6482G>A	2.37:g.152512680C>T	ENSP00000474498:p.Arg2161His	NA	Q15346|Q53QQ2|Q53TG8	37	CCDS54408.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830523	0.32329	2.43E-4	0.0	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.83	-7.68	0.01268	.	0.892392	0.10007	N	0.727734	T	0.21550	0.0519	L	0.29908	0.895	0.38568	D	0.94988	B	0.02656	0.0	B	0.04013	0.001	T	0.04855	-1.0922	10	0.40728	T	0.16	.	18.2037	0.89847	0.0:0.597:0.0:0.403	.	2161	P20929	NEBU_HUMAN	H	2161	ENSP00000386259:R2161H;ENSP00000380505:R2161H;ENSP00000416578:R2161H;ENSP00000172853:R2161H	ENSP00000172853:R2161H	R	-	2	0	NEB	152220926	0.000000	0.05858	0.578000	0.28575	0.954000	0.61252	-1.351000	0.02622	-1.394000	0.02077	-0.253000	0.11424	CGC	NEB-018	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000469063.1		-	ENST00000604864.1	Missense_Mutation	SNP	2 : 152512680 - 152512680 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1904	293
CFH	3075	broad.mit.edu	37	1	196684801	196684801	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196684801A>T	ENST00000367429.4	+	11	1838	c.1598A>T	c.(1597-1599)gAc>gTc	p.D533V		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	533	Sushi 9.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						gacacattGGACTATGAATGC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													247	231	236			NA	NA	1		NA											NA				196684801		2203	4300	6503	SO:0001583	missense			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971	3075	3075		Complement system	4883	protein-coding gene	gene with protein product	beta-1H, H factor 2 (complement), age-related maculopathy susceptibility 1	134370	H factor 1 (complement)	HF, HF1, HF2	NA	2889480, 2963625	Standard	NM_000186	NM_000186	NA	Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.1598A>T	1.37:g.196684801A>T	ENSP00000356399:p.Asp533Val	NA	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	37	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	A	12.60	1.985538	0.35036	.	.	ENSG00000000971	ENST00000367429	T	0.63255	-0.03	5.65	4.51	0.55191	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.60818	0.2298	M	0.87456	2.885	0.80722	D	1	P	0.37370	0.592	B	0.34452	0.183	T	0.58002	-0.7713	9	0.15499	T	0.54	.	8.9973	0.36061	0.8355:0.0:0.0:0.1645	.	533	P08603	CFAH_HUMAN	V	533	ENSP00000356399:D533V	ENSP00000356399:D533V	D	+	2	0	CFH	194951424	0.963000	0.33076	0.949000	0.38748	0.025000	0.11179	2.018000	0.40991	0.943000	0.37553	0.533000	0.62120	GAC	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086412.2		+	ENST00000367429.4	Missense_Mutation	SNP	1 : 196684801 - 196684801 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	671	30
AREL1	9870	broad.mit.edu	37	14	75151269	75151269	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75151269C>T	ENST00000356357.4	-	4	646	c.131G>A	c.(130-132)cGg>cAg	p.R44Q	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1	NA											NA						ATAAATAGTCCGGTCCCCTCG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	57	57			NA	NA	14		NA											NA				75151269		1917	4123	6040	SO:0001583	missense			AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682	9870	9870			20363	protein-coding gene	gene with protein product		615380	KIAA0317	KIAA0317	NA	9205841, 23479728	Standard	NM_014821	XM_006720344	NA	Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.131G>A	14.37:g.75151269C>T	ENSP00000348714:p.Arg44Gln	NA		37	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	C	35	5.565892	0.96540	.	.	ENSG00000119682	ENST00000356357;ENST00000555249	T;T	0.53857	0.6;0.6	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.55321	0.1913	N	0.08118	0	0.80722	D	1	D;D	0.71674	0.998;0.976	D;B	0.72982	0.979;0.347	T	0.59241	-0.7491	10	0.32370	T	0.25	.	20.0203	0.97492	0.0:1.0:0.0:0.0	.	44;44	O15033-2;O15033	.;K0317_HUMAN	Q	44	ENSP00000348714:R44Q;ENSP00000450458:R44Q	ENSP00000348714:R44Q	R	-	2	0	KIAA0317	74221022	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.730000	0.93505	0.655000	0.94253	CGG	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335517.2		-	ENST00000356357.4	Missense_Mutation	SNP	14 : 75151269 - 75151269 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	290	10
MYH11	4629	broad.mit.edu	37	16	15853516	15853516	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15853516C>T	ENST00000452625.2	-	13	1426	c.1339G>A	c.(1339-1341)Gtg>Atg	p.V447M	MYH11_ENST00000300036.5_Missense_Mutation_p.V440M|MYH11_ENST00000576790.2_Missense_Mutation_p.V440M|MYH11_ENST00000396324.3_Missense_Mutation_p.V447M	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	440	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCTTTGTTCACGCGGGTGAGT	0.552		NA	T	CBFB	AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		16	16p13.13-p13.12	4629	myosin, heavy polypeptide 11, smooth muscle		L	0													118	105	109			NA	NA	16		NA											NA				15853516		2197	4300	6497	SO:0001583	missense			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392	4629	4629		Myosins / Myosin superfamily : Class II	7569	protein-coding gene	gene with protein product		160745	myosin, heavy polypeptide 11, smooth muscle		NA	7684189	Standard	NM_001040113	NM_001040113	NA	Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000452625.2:c.1339G>A	16.37:g.15853516C>T	ENSP00000407821:p.Val447Met	NA	O00396|O94944|P78422	37	CCDS45424.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520021	0.64634	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.75	5.75	0.90469	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.86506	0.5949	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D;D	0.69078	0.981;0.997;0.997;0.997;0.997;0.981	D;D;D;D;P;P	0.63703	0.917;0.917;0.917;0.917;0.891;0.879	D	0.87710	0.2566	10	0.87932	D	0	.	18.932	0.92570	0.0:1.0:0.0:0.0	.	447;440;440;447;440;447	B1PS43;D2JYH7;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;.;MYH11_HUMAN;.;.;.	M	440;440;447;447;447	ENSP00000300036:V440M;ENSP00000345136:V440M;ENSP00000379616:V447M;ENSP00000407821:V447M	ENSP00000300036:V440M	V	-	1	0	MYH11	15761017	0.944000	0.32072	0.966000	0.40874	0.496000	0.33645	2.105000	0.41825	2.706000	0.92434	0.561000	0.74099	GTG	MYH11-013	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000436647.2		-	ENST00000452625.2	Missense_Mutation	SNP	16 : 15853516 - 15853516 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	594	113
SOS1	6654	broad.mit.edu	37	2	39285830	39285830	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39285830A>T	ENST00000395038.2	-	3	356	c.329T>A	c.(328-330)aTt>aAt	p.I110N	SOS1_ENST00000426016.1_Missense_Mutation_p.I110N|SOS1_ENST00000402219.2_Missense_Mutation_p.I110N|SOS1_ENST00000428721.2_Missense_Mutation_p.I53N			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	110					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TAAAGGATGAATTTTTTCTAC	0.343		NA							Noonan syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	102	100			NA	NA	2		NA											NA				39285830		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	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904	6654	6654		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	11187	protein-coding gene	gene with protein product		182530	gingival fibromatosis, hereditary, 1	GINGF	NA	8276400, 10995566	Standard	NM_005633	NM_005633	NA	Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000395038.2:c.329T>A	2.37:g.39285830A>T	ENSP00000378479:p.Ile110Asn	NA	A8K2G3	37		.	.	.	.	.	.	.	.	.	.	A	25.2	4.612252	0.87258	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000395038;ENST00000263879;ENST00000428721;ENST00000451331	T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52	5.9	5.9	0.94986	Histone-fold (2);Histone core (1);	0.000000	0.85682	D	0.000000	D	0.86356	0.5913	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88674	0.3197	10	0.87932	D	0	.	16.3322	0.83039	1.0:0.0:0.0:0.0	.	110	Q07889	SOS1_HUMAN	N	110;110;110;110;53;53	ENSP00000387784:I110N;ENSP00000384675:I110N;ENSP00000378479:I110N;ENSP00000399992:I53N;ENSP00000393899:I53N	ENSP00000263879:I110N	I	-	2	0	SOS1	39139334	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	9.210000	0.95106	2.251000	0.74343	0.528000	0.53228	ATT	SOS1-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000331649.1		-	ENST00000395038.2	Missense_Mutation	SNP	2 : 39285830 - 39285830 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	789	128
ZZEF1	23140	broad.mit.edu	37	17	3916785	3916785	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3916785G>A	ENST00000381638.2	-	52	8661	c.8537C>T	c.(8536-8538)gCc>gTc	p.A2846V		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2846							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TAAGTGGATGGCTTTTAATCG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	67	71			NA	NA	17		NA											NA				3916785		2203	4300	6503	SO:0001583	missense			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755	23140	23140		Zinc fingers, ZZ-type, EF-hand domain containing	29027	protein-coding gene	gene with protein product			zinc finger, ZZ-type with EF hand domain 1		NA	9455477	Standard	NM_015113	XM_005256560	NA	Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.8537C>T	17.37:g.3916785G>A	ENSP00000371051:p.Ala2846Val	NA	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	36	5.832956	0.97003	.	.	ENSG00000074755	ENST00000381638	T	0.30182	1.54	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.48021	0.1477	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.42498	-0.9448	10	0.87932	D	0	-15.2664	20.3214	0.98679	0.0:0.0:1.0:0.0	.	2846	O43149	ZZEF1_HUMAN	V	2846	ENSP00000371051:A2846V	ENSP00000371051:A2846V	A	-	2	0	ZZEF1	3863534	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.229000	0.95273	2.804000	0.96469	0.655000	0.94253	GCC	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207480.1		-	ENST00000381638.2	Missense_Mutation	SNP	17 : 3916785 - 3916785 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	332	68
C9orf3	84909	broad.mit.edu	37	9	97563133	97563133	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:97563133C>A	ENST00000297979.5	+	5	1388	c.1213C>A	c.(1213-1215)Cct>Act	p.P405T	C9orf3_ENST00000277198.2_Missense_Mutation_p.P405T|C9orf3_ENST00000395357.2_Missense_Mutation_p.P25T|C9orf3_ENST00000375315.2_Missense_Mutation_p.P405T	NM_032823.5	NP_116212.3	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	405					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GGTCTTTGCCCCTGTGTGCCT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	83	87			NA	NA	9		NA											NA				97563133		2203	4300	6503	SO:0001583	missense			AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120	84909	84909			1361	protein-coding gene	gene with protein product	aminopeptidase O				NA	15687497	Standard	NM_032823	NM_001193329	NA	Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000297979.5:c.1213C>A	9.37:g.97563133C>A	ENSP00000297979:p.Pro405Thr	NA	Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	37	CCDS6713.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.062172	0.55432	.	.	ENSG00000148120	ENST00000277198;ENST00000297979;ENST00000375315;ENST00000424143;ENST00000428313;ENST00000395357	T;T;T;T;T;T	0.04970	4.31;3.52;3.52;3.52;3.52;4.31	5.28	5.28	0.74379	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.20047	0.0482	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.76575	0.948;0.967;0.988;0.956	T	0.00070	-1.2134	10	0.37606	T	0.19	-11.1188	12.4307	0.55573	0.0:0.924:0.0:0.076	.	405;405;405;405	Q8N6M6;Q8N6M6-4;Q8N6M6-2;Q8N6M6-3	AMPO_HUMAN;.;.;.	T	405;405;405;228;187;25	ENSP00000277198:P405T;ENSP00000297979:P405T;ENSP00000364464:P405T;ENSP00000402171:P228T;ENSP00000401854:P187T;ENSP00000378763:P25T	ENSP00000277198:P405T	P	+	1	0	C9orf3	96602954	1.000000	0.71417	0.998000	0.56505	0.250000	0.25880	3.533000	0.53561	2.747000	0.94245	0.650000	0.86243	CCT	C9orf3-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053197.1		+	ENST00000297979.5	Missense_Mutation	SNP	9 : 97563133 - 97563133 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	460	62
QSOX2	169714	broad.mit.edu	37	9	139100954	139100954	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139100954C>T	ENST00000358701.5	-	12	1754	c.1717G>A	c.(1717-1719)Gca>Aca	p.A573T		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	573					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CCCTGGTCTGCGGAATACGTG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	89	90			NA	NA	9		NA											NA				139100954		2203	4300	6503	SO:0001583	missense			AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661	169714	169714			30249	protein-coding gene	gene with protein product		612860	quiescin Q6-like 1	QSCN6L1	NA	12176051	Standard	NM_181701	NM_181701	NA	Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.1717G>A	9.37:g.139100954C>T	ENSP00000351536:p.Ala573Thr	NA	A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	37	CCDS35178.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.850954	0.51270	.	.	ENSG00000165661	ENST00000358701	T	0.17054	2.3	4.91	4.91	0.64330	.	1.152020	0.06417	N	0.721648	T	0.15262	0.0368	L	0.50333	1.59	0.09310	N	1	P	0.44006	0.824	B	0.25405	0.06	T	0.36359	-0.9751	10	0.09843	T	0.71	-2.7184	17.1404	0.86752	0.0:1.0:0.0:0.0	.	573	Q6ZRP7	QSOX2_HUMAN	T	573	ENSP00000351536:A573T	ENSP00000351536:A573T	A	-	1	0	QSOX2	138240775	0.001000	0.12720	0.003000	0.11579	0.001000	0.01503	0.791000	0.26915	2.258000	0.74832	0.558000	0.71614	GCA	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055046.2		-	ENST00000358701.5	Missense_Mutation	SNP	9 : 139100954 - 139100954 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	510	86
ABCA6	23460	broad.mit.edu	37	17	67111029	67111029	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67111029C>A	ENST00000284425.2	-	13	1830	c.1656G>T	c.(1654-1656)gaG>gaT	p.E552D		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	552	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TTCTGATTTCCTCCAAGTCTT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	88	90			NA	NA	17		NA											NA				67111029		2203	4300	6503	SO:0001583	missense			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262	23460	23460		ATP binding cassette transporters / subfamily A	36	protein-coding gene	gene with protein product		612504			NA	8894702	Standard	NM_080284	NM_080284	NA	Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.1656G>T	17.37:g.67111029C>A	ENSP00000284425:p.Glu552Asp	NA	Q6NSH9|Q8N856|Q8WWZ6	37	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569986	0.45798	.	.	ENSG00000154262	ENST00000284425	D	0.94537	-3.45	4.87	3.9	0.45041	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.229900	0.30051	N	0.010528	D	0.86003	0.5829	N	0.04746	-0.17	0.80722	D	1	B	0.24132	0.098	B	0.35688	0.208	T	0.79208	-0.1898	10	0.29301	T	0.29	.	5.1731	0.15120	0.0:0.7539:0.0:0.2461	.	552	Q8N139	ABCA6_HUMAN	D	552	ENSP00000284425:E552D	ENSP00000284425:E552D	E	-	3	2	ABCA6	64622624	0.001000	0.12720	1.000000	0.80357	0.991000	0.79684	-0.638000	0.05452	2.686000	0.91538	0.650000	0.86243	GAG	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450463.1		-	ENST00000284425.2	Missense_Mutation	SNP	17 : 67111029 - 67111029 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	405	19
DRG2	1819	broad.mit.edu	37	17	18007126	18007126	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18007126A>C	ENST00000583355.1	+	3	254	c.237A>C	c.(235-237)gaA>gaC	p.E79D	DRG2_ENST00000225729.3_Missense_Mutation_p.K273T|DRG2_ENST00000395726.4_Missense_Mutation_p.K273T			P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	0	G.				signal transduction		GTP binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					TGCGGCATGAAGCTGAACCTG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	115	119			NA	NA	17		NA											NA				18007126		2203	4300	6503	SO:0001583	missense			X80754	CCDS11191.1	17p13-p12	2008-07-18	2001-11-28		ENSG00000108591	ENSG00000108591	1819	1819			3030	protein-coding gene	gene with protein product		602986	developmentally regulated GTP-binding protein 2		NA	9605870, 7929244	Standard	NM_001388	NM_001388	NA	Approved		uc002gsh.2	P55039	OTTHUMG00000059399	ENST00000583355.1:c.237A>C	17.37:g.18007126A>C	ENSP00000463256:p.Glu79Asp	NA	B2R8G5|Q9BWB2	37		.	.	.	.	.	.	.	.	.	.	A	18.09	3.546066	0.65198	.	.	ENSG00000108591	ENST00000395726;ENST00000225729	T;T	0.18657	2.2;2.2	5.33	5.33	0.75918	.	0.129729	0.64402	D	0.000002	T	0.30386	0.0763	M	0.86028	2.79	0.30455	N	0.77487	B;B	0.29862	0.259;0.072	B;B	0.24701	0.055;0.034	T	0.31447	-0.9943	10	0.36615	T	0.2	-19.2294	15.2684	0.73681	1.0:0.0:0.0:0.0	.	273;273	A8MZF9;P55039	.;DRG2_HUMAN	T	273	ENSP00000379076:K273T;ENSP00000225729:K273T	ENSP00000225729:K273T	K	+	2	0	DRG2	17947851	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.840000	0.92125	2.003000	0.58678	0.459000	0.35465	AAG	DRG2-025	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000447190.1		+	ENST00000583355.1	Missense_Mutation	SNP	17 : 18007126 - 18007126 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	647	109
MAST4	375449	broad.mit.edu	37	5	66084569	66084569	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66084569C>T	ENST00000403625.2	+	3	884	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	MAST4_ENST00000406039.1_Missense_Mutation_p.R197C|MAST4_ENST00000406374.1_Missense_Mutation_p.R197C|MAST4_ENST00000404260.3_Missense_Mutation_p.R197C	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	197						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CAACCTCGTGCGCATGCGCAG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	31	31			NA	NA	5		NA											NA				66084569		1887	4111	5998	SO:0001583	missense			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020	375449	375449			19037	protein-coding gene	gene with protein product					NA	9205841	Standard		NM_198828	NA	Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.589C>T	5.37:g.66084569C>T	ENSP00000385727:p.Arg197Cys	NA	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	37	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	35	5.553642	0.96501	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000406374;ENST00000406039;ENST00000432817;ENST00000434115	T;T;T;T;T	0.80304	-1.33;-1.36;-0.16;-0.03;-0.42	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000002	D	0.89019	0.6596	M	0.62723	1.935	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.89396	0.3692	10	0.87932	D	0	.	19.3639	0.94454	0.0:1.0:0.0:0.0	.	197;197	E7EX28;O15021-4	.;.	C	197;197;197;197;69;4	ENSP00000385048:R197C;ENSP00000385727:R197C;ENSP00000385088:R197C;ENSP00000384547:R197C;ENSP00000413573:R69C	ENSP00000385727:R197C	R	+	1	0	MAST4	66120325	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.578000	0.74032	2.677000	0.91161	0.557000	0.71058	CGC	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326324.2		+	ENST00000403625.2	Missense_Mutation	SNP	5 : 66084569 - 66084569 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	243	36
ZBTB2	57621	broad.mit.edu	37	6	151687588	151687588	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151687588C>A	ENST00000325144.4	-	3	753	c.613G>T	c.(613-615)Gaa>Taa	p.E205*		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		GAAACAAGTTCTGGAGACAGC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	81	81			NA	NA	6		NA											NA				151687588		2203	4300	6503	SO:0001587	stop_gained			BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472	57621	57621		-, BTB/POZ domain containing, Zinc fingers, C2H2-type	20868	protein-coding gene	gene with protein product					NA	10819331	Standard	NM_020861	NM_020861	NA	Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.613G>T	6.37:g.151687588C>A	ENSP00000323183:p.Glu205*	NA	A8K7C7|Q5SZ81|Q9P245	37	CCDS5231.1	.	.	.	.	.	.	.	.	.	.	C	33	5.272898	0.95429	.	.	ENSG00000181472	ENST00000325144	.	.	.	5.35	4.47	0.54385	.	0.222278	0.46442	D	0.000293	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.4356	15.4909	0.75605	0.1394:0.8606:0.0:0.0	.	.	.	.	X	205	.	ENSP00000323183:E205X	E	-	1	0	ZBTB2	151729281	1.000000	0.71417	0.462000	0.27118	0.995000	0.86356	5.102000	0.64572	1.243000	0.43853	0.561000	0.74099	GAA	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042715.1		-	ENST00000325144.4	Nonsense_Mutation	SNP	6 : 151687588 - 151687588 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	352	54
DNAH9	1770	broad.mit.edu	37	17	11650903	11650903	+	Missense_Mutation	SNP	C	C	T	rs138652506		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11650903C>T	ENST00000454412.2	+	32	6430	c.6430C>T	c.(6430-6432)Cgg>Tgg	p.R2144W	DNAH9_ENST00000262442.4_Missense_Mutation_p.R2144W			Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2144	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCTGGCTGTGCGGCACTCTGT	0.592		NA											C	2	9e-04	NA	NA	2184	0.0035	1	,	,	NA	3e-04	NA	NA	NA	9e-04	1	EXOME	NA	NA	3e-04	SNP								NA				0								C	TRP/ARG	0,4406		0,0,2203	65	61	62		6430	0.1	0.3	17	dbSNP_134	62	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DNAH9	NM_001372.3	101	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	2144/4487	11650903	1,13005	2203	4300	6503	SO:0001583	missense			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174	1770	1770		Axonemal dyneins	2953	protein-coding gene	gene with protein product		603330	dynein, axonemal, heavy polypeptide 17-like, dynein, axonemal, heavy polypeptide 9	DNAH17L	NA	8812413, 11247663	Standard	NM_001372	NM_001372	NA	Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000454412.2:c.6430C>T	17.37:g.11650903C>T	ENSP00000414874:p.Arg2144Trp	NA	O15064|O95494|Q9NQ28	37		2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	18.38	3.611421	0.66558	0.0	1.16E-4	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.44881	0.91;0.91	5.03	0.113	0.14631	ATPase, AAA+ type, core (1);	0.000000	0.64402	D	0.000001	T	0.70254	0.3203	H	0.99740	4.74	0.80722	D	1	D	0.55605	0.972	P	0.50537	0.643	D	0.83810	0.0241	10	0.72032	D	0.01	.	13.858	0.63542	0.5383:0.4617:0.0:0.0	.	2144	Q9NYC9	DYH9_HUMAN	W	2144;2144;726	ENSP00000262442:R2144W;ENSP00000414874:R2144W	ENSP00000262442:R2144W	R	+	1	2	DNAH9	11591628	0.013000	0.17824	0.299000	0.25016	0.864000	0.49448	0.130000	0.15850	0.093000	0.17368	0.557000	0.71058	CGG	DNAH9-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000252758.4		+	ENST00000454412.2	Missense_Mutation	SNP	17 : 11650903 - 11650903 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	259	45
ZNF460	10794	broad.mit.edu	37	19	57802170	57802170	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57802170C>A	ENST00000360338.3	+	3	583	c.261C>A	c.(259-261)taC>taA	p.Y87*	ZNF460_ENST00000537645.1_Nonsense_Mutation_p.Y46*	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	87	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCCAAGATACTCCTATTTGG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	71	72			NA	NA	19		NA											NA				57802170		2203	4300	6503	SO:0001587	stop_gained			X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714	10794	10794		Zinc fingers, C2H2-type, -	21628	protein-coding gene	gene with protein product		604755	zinc finger protein 272	ZNF272	NA	15004467	Standard	NM_006635	NM_006635	NA	Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.261C>A	19.37:g.57802170C>A	ENSP00000353491:p.Tyr87*	NA	A4FU64|Q2VPC7|Q6VSF8	37	CCDS12949.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702427	0.48307	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	.	.	.	2.06	2.06	0.26882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	5.8591	0.18736	0.3126:0.6874:0.0:0.0	.	.	.	.	X	46;87	.	ENSP00000353491:Y87X	Y	+	3	2	ZNF460	62493982	0.000000	0.05858	0.016000	0.15963	0.009000	0.06853	0.366000	0.20365	1.132000	0.42129	0.650000	0.86243	TAC	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465727.1		+	ENST00000360338.3	Nonsense_Mutation	SNP	19 : 57802170 - 57802170 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	388	81
ALMS1	7840	broad.mit.edu	37	2	73828501	73828501	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73828501G>A	ENST00000264448.6	+	19	12160	c.12049G>A	c.(12049-12051)Gca>Aca	p.A4017T	ALMS1_ENST00000409009.1_Missense_Mutation_p.A3975T|ALMS1_ENST00000464408.2_3'UTR	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4017					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GGGCTACCTGGCAGGCCCAGG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	45	43			NA	NA	2		NA											NA				73828501		2201	4300	6501	SO:0001583	missense			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127	7840	7840			428	protein-coding gene	gene with protein product		606844			NA	9063741	Standard	NM_015120	NM_015120	NA	Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.12049G>A	2.37:g.73828501G>A	ENSP00000264448:p.Ala4017Thr	NA	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374355	0.61735	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.06449	3.3;3.3	5.17	2.11	0.27256	.	0.704599	0.12773	N	0.440361	T	0.13500	0.0327	L	0.43152	1.355	0.09310	N	0.999998	P;D	0.60575	0.746;0.988	B;P	0.60236	0.33;0.871	T	0.12656	-1.0539	10	0.51188	T	0.08	.	9.7807	0.40647	0.0:0.2824:0.5721:0.1455	.	3975;4017	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	T	3975;4017	ENSP00000386627:A3975T;ENSP00000264448:A4017T	ENSP00000264448:A4017T	A	+	1	0	ALMS1	73682009	0.009000	0.17119	0.001000	0.08648	0.094000	0.18550	1.680000	0.37607	0.689000	0.31550	0.561000	0.74099	GCA	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327776.1		+	ENST00000264448.6	Missense_Mutation	SNP	2 : 73828501 - 73828501 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	484	123
C9orf24	84688	broad.mit.edu	37	9	34379117	34379117	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34379117G>T	ENST00000379124.1	-	4	547	c.452C>A	c.(451-453)cCt>cAt	p.P151H	C9orf24_ENST00000481295.1_5'UTR|C9orf24_ENST00000379133.3_3'UTR|C9orf24_ENST00000379126.3_Missense_Mutation_p.P98H|C9orf24_ENST00000297623.2_3'UTR|C9orf24_ENST00000379127.1_Missense_Mutation_p.P151H			Q8NCR6	CI024_HUMAN	chromosome 9 open reading frame 24	57										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		CACAAACTCAGGATGGATAAC	0.488		NA									OREG0019150	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	125	132			NA	NA	9		NA											NA				34379117		2203	4300	6503	SO:0001583	missense			BC029484	CCDS6553.1, CCDS6554.1, CCDS6555.1, CCDS59121.1	9p11.2	2013-01-11			ENSG00000164972	ENSG00000164972	84688	84688			19919	protein-coding gene	gene with protein product	ciliated bronchial epithelium 1, spermatid-specific manchette-related protein 1				NA	12029067	Standard	NM_147169	NM_147168	NA	Approved	bA573M23.4, NYD-SP22, MGC32921, MGC33614, CBE1, SMRP1	uc003zuh.1	Q8NCR6	OTTHUMG00000000437	ENST00000379124.1:c.452C>A	9.37:g.34379117G>T	ENSP00000368419:p.Pro151His	847	Q5T599|Q8N9G4|Q96KD1|Q96LN1	37	CCDS59121.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334188	0.81801	.	.	ENSG00000164972	ENST00000379126;ENST00000379127;ENST00000379112;ENST00000379124	T;T	0.57907	0.37;0.37	5.01	5.01	0.66863	.	.	.	.	.	T	0.72779	0.3503	.	.	.	0.36652	D	0.877443	D	0.89917	1.0	D	0.91635	0.999	T	0.80082	-0.1531	8	0.87932	D	0	.	15.187	0.73009	0.0:0.0:1.0:0.0	.	98	Q8NCR6-3	.	H	98;151;81;151	ENSP00000368422:P151H;ENSP00000368419:P151H	ENSP00000368407:P81H	P	-	2	0	C9orf24	34369117	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.752000	0.85141	2.605000	0.88082	0.655000	0.94253	CCT	C9orf24-007	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000001104.1		-	ENST00000379124.1	Missense_Mutation	SNP	9 : 34379117 - 34379117 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	309	58
FBXL2	25827	broad.mit.edu	37	3	33420310	33420310	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33420310G>T	ENST00000484457.1	+	13	1042				FBXL2_ENST00000538181.1_Intron|FBXL2_ENST00000283627.6_Intron|FBXL2_ENST00000446237.3_Missense_Mutation_p.G53V|FBXL2_ENST00000507198.1_Intron|FBXL2_ENST00000538892.1_Intron|FBXL2_ENST00000542085.1_Intron	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	NA					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						AAGCTGTTTGGGTTCTCTTTC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001627	intron_variant			AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558	25827	25827		F-boxes / Leucine-rich repeats	13598	protein-coding gene	gene with protein product		605652			NA	10508920, 10531035	Standard	NM_012157	NM_012157	NA	Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000484457.1:c.951+77G>T	3.37:g.33420310G>T		NA	Q6IAN3|Q9NVQ8|Q9UK27|Q9UKA5|Q9Y3Y9	37	CCDS2658.1	.	.	.	.	.	.	.	.	.	.	G	4.724	0.134621	0.09032	.	.	ENSG00000153558	ENST00000446237	T	0.16457	2.34	3.39	1.37	0.22104	.	.	.	.	.	T	0.14442	0.0349	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31280	-0.9949	5	.	.	.	.	8.2416	0.31662	0.0:0.0:0.5855:0.4145	.	.	.	.	V	53	ENSP00000389251:G53V	.	G	+	2	0	FBXL2	33395314	0.053000	0.20554	0.004000	0.12327	0.082000	0.17680	0.485000	0.22324	0.171000	0.19730	0.543000	0.68304	GGG	FBXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253245.2		+	ENST00000484457.1	Intron	SNP	3 : 33420310 - 33420310 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	118	34
XPR1	9213	broad.mit.edu	37	1	180794394	180794394	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180794394G>A	ENST00000367590.4	+	9	1246	c.1048G>A	c.(1048-1050)Gcc>Acc	p.A350T	XPR1_ENST00000367589.3_Missense_Mutation_p.A350T	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	350						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GTATCCACTTGCCCTTTATGG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													189	184	186			NA	NA	1		NA											NA				180794394		2203	4300	6503	SO:0001583	missense			AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324	9213	9213			12827	protein-coding gene	gene with protein product		605237	xenotropic and polytropic retrovirus receptor		NA	9990033	Standard	NM_004736	NM_004736	NA	Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.1048G>A	1.37:g.180794394G>A	ENSP00000356562:p.Ala350Thr	NA	O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	37	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.981401	0.34942	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T;T	0.42900	0.96;0.96	5.52	5.52	0.82312	EXS, C-terminal (1);	0.344782	0.32093	N	0.006588	T	0.32585	0.0834	L	0.39566	1.225	0.33990	D	0.649014	B;B	0.22146	0.006;0.065	B;B	0.25759	0.025;0.063	T	0.40942	-0.9536	10	0.37606	T	0.19	-0.4905	7.5937	0.28035	0.2017:0.0:0.7983:0.0	.	350;350	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	T	350	ENSP00000356562:A350T;ENSP00000356561:A350T	ENSP00000356561:A350T	A	+	1	0	XPR1	179061017	0.857000	0.29778	0.997000	0.53966	0.995000	0.86356	2.800000	0.47900	2.587000	0.87381	0.557000	0.71058	GCC	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084996.2		+	ENST00000367590.4	Missense_Mutation	SNP	1 : 180794394 - 180794394 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	868	223
CRLF1	9244	broad.mit.edu	37	19	18710420	18710420	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18710420C>T	ENST00000392386.3	-	2	545	c.352G>A	c.(352-354)Gcc>Acc	p.A118T		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	118	Ig-like C2-type.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						CCGTCACGGGCGTGGCACACG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	34	34			NA	NA	19		NA											NA				18710420		2202	4300	6502	SO:0001583	missense			AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016	9244	9244		Fibronectin type III domain containing	2364	protein-coding gene	gene with protein product	cold-induced sweating syndrome	604237			NA	9686600	Standard		NM_004750	NA	Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.352G>A	19.37:g.18710420C>T	ENSP00000376188:p.Ala118Thr	NA	Q9UHH5	37	CCDS32962.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459657	0.43736	.	.	ENSG00000006016	ENST00000392386	D	0.85629	-2.01	5.23	4.2	0.49525	Immunoglobulin-like fold (1);	0.227351	0.45126	D	0.000381	T	0.67135	0.2861	N	0.14661	0.345	0.29291	N	0.869344	P	0.35226	0.491	B	0.25405	0.06	T	0.62263	-0.6891	10	0.23302	T	0.38	-32.249	9.2979	0.37827	0.0:0.8439:0.0:0.1561	.	118	O75462	CRLF1_HUMAN	T	118	ENSP00000376188:A118T	ENSP00000376188:A118T	A	-	1	0	CRLF1	18571420	0.865000	0.29922	0.862000	0.33874	0.611000	0.37282	1.167000	0.31847	2.449000	0.82847	0.511000	0.50034	GCC	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465129.1		-	ENST00000392386.3	Missense_Mutation	SNP	19 : 18710420 - 18710420 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	299	65
SDK2	54549	broad.mit.edu	37	17	71398243	71398243	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71398243G>A	ENST00000392650.3	-	19	2522	c.2522C>T	c.(2521-2523)aCc>aTc	p.T841I	SDK2_ENST00000388726.3_Missense_Mutation_p.T841I	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	841	Fibronectin type-III 3.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GGTCACCATGGTAACCTCCTC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	74	82			NA	NA	17		NA											NA				71398243		2203	4300	6503	SO:0001583	missense			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188	54549	54549		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	19308	protein-coding gene	gene with protein product		607217	sidekick homolog 2 (chicken)		NA	12230981, 15213259	Standard	NM_019064	NM_001144952	NA	Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.2522C>T	17.37:g.71398243G>A	ENSP00000376421:p.Thr841Ile	NA	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	37	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.005846	0.54254	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.57107	0.42;0.42;1.57	5.08	5.08	0.68730	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.108394	0.64402	D	0.000007	T	0.40645	0.1125	L	0.28556	0.865	0.51233	D	0.999915	B;B	0.17038	0.013;0.02	B;B	0.17979	0.02;0.014	T	0.22034	-1.0228	10	0.36615	T	0.2	.	12.2987	0.54862	0.0782:0.0:0.9218:0.0	.	841;841	Q58EX2-2;Q58EX2	.;SDK2_HUMAN	I	465;841;841;17;841	ENSP00000376421:T841I;ENSP00000373378:T841I;ENSP00000407098:T17I	ENSP00000324967:T841I	T	-	2	0	SDK2	68909838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.646000	0.74348	2.540000	0.85666	0.597000	0.82753	ACC	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327598.2		-	ENST00000392650.3	Missense_Mutation	SNP	17 : 71398243 - 71398243 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	309	53
FNTA	2339	broad.mit.edu	37	8	42932451	42932451	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42932451C>T	ENST00000529687.1	+	6	1161	c.273C>T	c.(271-273)ttC>ttT	p.F91F	RP11-598P20.5_ENST00000534420.1_Silent_p.F199F|FNTA_ENST00000342116.4_Silent_p.F175F|FNTA_ENST00000302279.3_Silent_p.F242F			P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	242					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AAAGATACTTCGTTATTTCTA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	112	115			NA	NA	8		NA											NA				42932451		2203	4300	6503	SO:0001819	synonymous_variant			L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522	2339	2339		Prenyltransferase alpha subunit repeat containing	3782	protein-coding gene	gene with protein product	protein prenyltransferase alpha subunit repeat containing 2	134635			NA	8276393	Standard	NM_002027	NR_033698	NA	Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000529687.1:c.273C>T	8.37:g.42932451C>T		NA	A6NJW0|Q53XJ9|Q9UDC1	37																																																																																				FNTA-004	PUTATIVE	NMD_exception|non_canonical_TEC|basic	protein_coding	NA	protein_coding	OTTHUMT00000383247.2		+	ENST00000529687.1	Silent	SNP	8 : 42932451 - 42932451 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	440	82
KRT34	3885	broad.mit.edu	37	17	39538384	39538384	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39538384C>T	ENST00000394001.1	-	1	271	c.241G>A	c.(241-243)Gcc>Acc	p.A81T		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	81	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CTCACATTGGCGGGGATGTTG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	75	76			NA	NA	17		NA											NA				39538384		2203	4300	6503	SO:0001583	missense			Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737	3885	3885		-, Intermediate filaments type I, keratins (acidic)	6452	protein-coding gene	gene with protein product	hard keratin type I 4	602763	keratin, hair, acidic, 4	KRTHA4	NA	2431943, 9756910, 16831889	Standard	NM_021013	NM_021013	NA	Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.241G>A	17.37:g.39538384C>T	ENSP00000377570:p.Ala81Thr	NA	Q8IUT8|Q8N4W2	37	CCDS11390.1	.	.	.	.	.	.	.	.	.	.	c	12.73	2.027008	0.35797	.	.	ENSG00000131737	ENST00000394001;ENST00000251648	.	.	.	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000005	T	0.46288	0.1385	L	0.39245	1.2	0.31342	N	0.68358	B	0.20550	0.046	B	0.16722	0.016	T	0.53954	-0.8365	9	0.72032	D	0.01	.	14.5202	0.67844	0.1472:0.8528:0.0:0.0	.	81	O76011	KRT34_HUMAN	T	39;81	.	ENSP00000251648:A81T	A	-	1	0	KRT34	36791910	0.896000	0.30565	0.993000	0.49108	0.256000	0.26092	1.529000	0.35996	2.780000	0.95670	0.563000	0.77884	GCC	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257304.3		-	ENST00000394001.1	Missense_Mutation	SNP	17 : 39538384 - 39538384 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	717	123
INSM2	84684	broad.mit.edu	37	14	36004916	36004916	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36004916G>A	ENST00000307169.3	+	1	1669	c.1458G>A	c.(1456-1458)gaG>gaA	p.E486E		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	486					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		ATATCAGGGAGAAGCACCGGC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	31	30			NA	NA	14		NA											NA				36004916		2202	4299	6501	SO:0001819	synonymous_variant			AF260323	CCDS9657.1	14q13.1	2013-01-08			ENSG00000168348	ENSG00000168348	NA	84684		Zinc fingers, C2H2-type	17539	protein-coding gene	gene with protein product	mlt 1	614027			NA		Standard		NM_032594	NA	Approved	IA-6	uc001wth.1	Q96T92	OTTHUMG00000140223	ENST00000307169.3:c.1458G>A	14.37:g.36004916G>A		NA	A1L432|Q8N8K7|Q96Q84	37	CCDS9657.1																																																																																			INSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276686.1		+	ENST00000307169.3	Silent	SNP	14 : 36004916 - 36004916 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	59
ZIC1	7545	broad.mit.edu	37	3	147128543	147128543	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147128543G>A	ENST00000282928.4	+	1	1373	c.644G>A	c.(643-645)cGc>cAc	p.R215H		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	215					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCCTTCTTCCGCTACATGCGC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	49	48			NA	NA	3		NA											NA				147128543		2203	4300	6503	SO:0001583	missense			D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977	7545	7545		Zinc fingers, C2H2-type	12872	protein-coding gene	gene with protein product		600470	Zic family member 1 (odd-paired Drosophila homolog), Zic family member 1 (odd-paired homolog, Drosophila)		NA	8542595	Standard	NM_003412	NM_003412	NA	Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.644G>A	3.37:g.147128543G>A	ENSP00000282928:p.Arg215His	NA	Q2M3N1	37	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585394	0.86748	.	.	ENSG00000152977	ENST00000282928	T	0.47869	0.83	3.84	3.84	0.44239	.	0.000000	0.85682	D	0.000000	T	0.69771	0.3148	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.76870	-0.2799	10	0.87932	D	0	.	16.1009	0.81169	0.0:0.0:1.0:0.0	.	215	Q15915	ZIC1_HUMAN	H	215	ENSP00000282928:R215H	ENSP00000282928:R215H	R	+	2	0	ZIC1	148611233	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.763000	0.85283	1.847000	0.53656	0.549000	0.68633	CGC	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355497.1		+	ENST00000282928.4	Missense_Mutation	SNP	3 : 147128543 - 147128543 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	264	51
GTF3C2	2976	broad.mit.edu	37	2	27551397	27551397	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27551397C>T	ENST00000359541.2	-	16	2623	c.2194G>A	c.(2194-2196)Gct>Act	p.A732T	GTF3C2_ENST00000264720.3_Missense_Mutation_p.A732T			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	732						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTAATATAGCAGCAATGAGC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	118	121			NA	NA	2		NA											NA				27551397		2203	4300	6503	SO:0001583	missense			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207	2976	2976		General transcription factors, WD repeat domain containing	4665	protein-coding gene	gene with protein product		604883	general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)		NA	7729686	Standard		NM_001521	NA	Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.2194G>A	2.37:g.27551397C>T	ENSP00000352536:p.Ala732Thr	NA	D6W557|Q16632|Q9BWI7	37	CCDS1749.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.77|19.77	3.889692|3.889692	0.72524|0.72524	.|.	.|.	ENSG00000115207|ENSG00000115207	ENST00000359541;ENST00000264720|ENST00000457098	T;T|.	0.73469|.	-0.75;-0.75|.	5.23|5.23	5.23|5.23	0.72850|0.72850	WD40 repeat-like-containing domain (1);|.	0.331763|.	0.32935|.	N|.	0.005470|.	T|T	0.32882|0.32882	0.0844|0.0844	N|N	0.12182|0.12182	0.205|0.205	0.35012|0.35012	D|D	0.757022|0.757022	D|.	0.57257|.	0.979|.	P|.	0.51777|.	0.679|.	T|T	0.40794|0.40794	-0.9544|-0.9544	10|5	0.14252|.	T|.	0.57|.	-11.2681|-11.2681	10.1613|10.1613	0.42853|0.42853	0.0:0.9092:0.0:0.0908|0.0:0.9092:0.0:0.0908	.|.	732|.	Q8WUA4|.	TF3C2_HUMAN|.	T|Y	732|25	ENSP00000352536:A732T;ENSP00000264720:A732T|.	ENSP00000264720:A732T|.	A|C	-|-	1|2	0|0	GTF3C2|GTF3C2	27404901|27404901	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.393000|4.393000	0.59665|0.59665	2.608000|2.608000	0.88229|0.88229	0.561000|0.561000	0.74099|0.74099	GCT|TGC	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000215028.2		-	ENST00000359541.2	Missense_Mutation	SNP	2 : 27551397 - 27551397 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	471	125
C9orf139	401563	broad.mit.edu	37	9	139929414	139929414	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139929414G>A	ENST00000314330.2	+	3	1995	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K		NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139	161										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		GGGTCAGAACGAAAGCCTCTC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	57	53			NA	NA	9		NA											NA				139929414		2198	4295	6493	SO:0001583	missense				CCDS7023.1	9q34.3	2008-02-05			ENSG00000180539	ENSG00000180539	401563	401563			31426	protein-coding gene	gene with protein product					NA		Standard	NM_207511	NM_207511	NA	Approved	FLJ36268, FLJ42909	uc004ckp.1	Q6ZV77	OTTHUMG00000020959	ENST00000314330.2:c.481G>A	9.37:g.139929414G>A	ENSP00000318119:p.Glu161Lys	NA	A2RUA3|B9EGW2|Q5SPY0|Q8N224	37	CCDS7023.1	.	.	.	.	.	.	.	.	.	.	g	13.60	2.285647	0.40394	.	.	ENSG00000180539	ENST00000314330	T	0.54675	0.56	2.64	0.667	0.17907	.	.	.	.	.	T	0.24624	0.0597	N	0.08118	0	0.09310	N	1	P	0.44090	0.826	B	0.33846	0.171	T	0.12682	-1.0538	9	0.87932	D	0	.	5.1043	0.14775	0.3008:0.0:0.6992:0.0	.	161	Q6ZV77	CI139_HUMAN	K	161	ENSP00000318119:E161K	ENSP00000318119:E161K	E	+	1	0	C9orf139	139049235	0.001000	0.12720	0.001000	0.08648	0.302000	0.27658	0.219000	0.17641	0.169000	0.19679	0.290000	0.19541	GAA	C9orf139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055213.2		+	ENST00000314330.2	Missense_Mutation	SNP	9 : 139929414 - 139929414 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	626	99
HELZ	9931	broad.mit.edu	37	17	65144688	65144688	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65144688A>G	ENST00000358691.5	-	20	2784	c.2618T>C	c.(2617-2619)aTc>aCc	p.I873T	HELZ_ENST00000580168.1_Missense_Mutation_p.I874T	NM_014877.3	NP_055692			helicase with zinc finger	NA										NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CACCTACTTGATGATAGCTTC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													193	190	191			NA	NA	17		NA											NA				65144688		1937	4147	6084	SO:0001583	missense			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265	9931	9931		Zinc fingers, CCCH-type domain containing	16878	protein-coding gene	gene with protein product	down-regulated in human cancers	606699			NA	10471385, 12691822	Standard	NM_014877	NM_014877	NA	Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.2618T>C	17.37:g.65144688A>G	ENSP00000351524:p.Ile873Thr	NA		37	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.671671	0.47781	.	.	ENSG00000198265	ENST00000358691	D	0.82984	-1.67	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.90981	0.7164	M	0.77103	2.36	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75484	0.978;0.986	D	0.92074	0.5667	10	0.87932	D	0	.	16.1449	0.81559	1.0:0.0:0.0:0.0	.	874;873	B7ZLW2;P42694	.;HELZ_HUMAN	T	873	ENSP00000351524:I873T	ENSP00000351524:I873T	I	-	2	0	HELZ	62575150	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.426000	0.90273	2.269000	0.75478	0.455000	0.32223	ATC	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447068.1		-	ENST00000358691.5	Missense_Mutation	SNP	17 : 65144688 - 65144688 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1024	81
KCNH5	27133	broad.mit.edu	37	14	63269112	63269112	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63269112G>A	ENST00000322893.7	-	9	2025	c.1757C>T	c.(1756-1758)gCc>gTc	p.A586V	KCNH5_ENST00000394968.1_Missense_Mutation_p.A528V|KCNH5_ENST00000420622.2_Missense_Mutation_p.A586V	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	586					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)		AAAGCAGAGGGCATCCACACT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	97	102			NA	NA	14		NA											NA				63269112		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.1757C>T	14.37:g.63269112G>A	ENSP00000321427:p.Ala586Val	NA		37	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.720742	0.48728	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968	D;D;D	0.96802	-3.09;-4.13;-3.09	4.93	4.93	0.64822	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.173476	0.52532	D	0.000080	D	0.95582	0.8564	L	0.56340	1.77	0.80722	D	1	B;B;B	0.29341	0.01;0.01;0.242	B;B;B	0.36766	0.015;0.009;0.232	D	0.94704	0.7886	10	0.54805	T	0.06	.	18.4893	0.90841	0.0:0.0:1.0:0.0	.	528;586;586	Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;KCNH5_HUMAN	V	586;586;528	ENSP00000321427:A586V;ENSP00000395439:A586V;ENSP00000378419:A528V	ENSP00000321427:A586V	A	-	2	0	KCNH5	62338865	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.913000	0.56394	2.449000	0.82847	0.563000	0.77884	GCC	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411747.1		-	ENST00000322893.7	Missense_Mutation	SNP	14 : 63269112 - 63269112 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	452	81
SUGP2	10147	broad.mit.edu	37	19	19136736	19136736	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19136736G>A	ENST00000601879.1	-	3	718	c.421C>T	c.(421-423)Cgt>Tgt	p.R141C	SUGP2_ENST00000452918.2_Missense_Mutation_p.R141C|SUGP2_ENST00000456085.2_Silent_p.S42S|SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000600377.1_Missense_Mutation_p.R155C|SUGP2_ENST00000337018.6_Missense_Mutation_p.R141C			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	141					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CAAGAACCACGGAGCGCAAAT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	100	99	99		421,421	3	1	19		99	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SUGP2	NM_001017392.3,NM_014884.3	180,180	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	141/1083,141/1083	19136736	1,13005	2203	4300	6503	SO:0001583	missense			AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607	10147	10147		G patch domain containing	18641	protein-coding gene	gene with protein product		607993	splicing factor, arginine/serine-rich 14	SFRS14	NA	12594045	Standard	NM_001017392	NM_014884	NA	Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.421C>T	19.37:g.19136736G>A	ENSP00000472286:p.Arg141Cys	NA	C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	37	CCDS12392.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.510062	0.44660	0.0	1.16E-4	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918	T;T;T	0.10860	2.83;2.84;2.83	5.29	3.03	0.35002	.	0.564561	0.17120	N	0.186255	T	0.07098	0.0180	N	0.14661	0.345	0.09310	N	0.999992	D;D	0.62365	0.991;0.978	B;P	0.44477	0.446;0.451	T	0.24728	-1.0152	10	0.49607	T	0.09	-2.171	8.6193	0.33851	0.0828:0.0:0.7646:0.1527	.	141;141	A8K5G0;Q8IX01	.;SUGP2_HUMAN	C	141	ENSP00000337926:R141C;ENSP00000332373:R141C;ENSP00000389380:R141C	ENSP00000332373:R141C	R	-	1	0	SUGP2	18997736	0.035000	0.19736	0.978000	0.43139	0.837000	0.47467	2.153000	0.42282	2.489000	0.83994	0.305000	0.20034	CGT	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464627.1		-	ENST00000601879.1	Missense_Mutation	SNP	19 : 19136736 - 19136736 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	663	102
IL6ST	3572	broad.mit.edu	37	5	55264223	55264223	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55264223C>A	ENST00000381298.2	-	5	684	c.372G>T	c.(370-372)ttG>ttT	p.L124F	IL6ST_ENST00000336909.5_Splice_Site_p.L124F|IL6ST_ENST00000381294.3_Splice_Site_p.L124F|IL6ST_ENST00000522633.2_Splice_Site_p.L124F|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000396816.1_Intron|IL6ST_ENST00000502326.3_Splice_Site_p.L124F|IL6ST_ENST00000381287.4_Splice_Site_p.L124F|IL6ST_ENST00000536319.1_Splice_Site_p.L124F|IL6ST_ENST00000577363.1_Intron	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	124					interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TTTCTGGAGGCACTAAAAGGG	0.368		NA	O		hepatocellular ca									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		5	5q11	3572	interleukin 6 signal transducer (gp130, oncostatin M receptor)		E	0													109	110	110			NA	NA	5		NA											NA				55264223		2202	4300	6502	SO:0001630	splice_region_variant			M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352	3572	3572		Interleukins and interleukin receptors, CD molecules, Fibronectin type III domain containing	6021	protein-coding gene	gene with protein product	gp130, oncostatin M receptor	600694	interleukin 6 signal transducer (gp130, oncostatin M receptor)		NA	2261637	Standard	NM_002184	NM_002184	NA	Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.371-1G>T	5.37:g.55264223C>A		NA	A0N0L4|Q9UQ41	37	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	C	9.104	1.004958	0.19199	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294;ENST00000381287;ENST00000536319;ENST00000522633;ENST00000542298	T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07	5.76	0.656	0.17844	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.599517	0.18360	N	0.143601	T	0.11367	0.0277	N	0.21448	0.665	0.80722	D	1	B;B;B	0.20780	0.004;0.048;0.001	B;B;B	0.18871	0.005;0.023;0.001	T	0.15838	-1.0423	10	0.32370	T	0.25	.	5.608	0.17391	0.3904:0.4128:0.0:0.1967	.	124;124;124	Q5FC04;P40189-2;P40189	.;.;IL6RB_HUMAN	F	124	ENSP00000370698:L124F;ENSP00000338799:L124F;ENSP00000370694:L124F;ENSP00000370687:L124F;ENSP00000444456:L124F;ENSP00000435399:L124F	ENSP00000338799:L124F	L	-	3	2	IL6ST	55299980	0.975000	0.34042	0.993000	0.49108	0.842000	0.47809	-0.009000	0.12765	-0.102000	0.12197	-0.143000	0.13931	TTG	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214146.3	Missense_Mutation	-	ENST00000381298.2	Splice_Site	SNP	5 : 55264223 - 55264223 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	495	67
CABIN1	23523	broad.mit.edu	37	22	24455729	24455729	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24455729T>C	ENST00000405822.2	+	10	1246	c.1152T>C	c.(1150-1152)ttT>ttC	p.F384F	CABIN1_ENST00000263119.5_Silent_p.F434F|CABIN1_ENST00000398319.2_Silent_p.F434F			Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	434					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ATGATTCCTTTAATAACTATG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	84	87			NA	NA	22		NA											NA				24455729		2203	4300	6503	SO:0001819	synonymous_variant			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991	23523	23523			24187	protein-coding gene	gene with protein product		604251			NA	9655484, 9205841	Standard	NM_012295	NM_001199281	NA	Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000405822.2:c.1152T>C	22.37:g.24455729T>C		NA	Q9Y460	37																																																																																				CABIN1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000320162.2		+	ENST00000405822.2	Silent	SNP	22 : 24455729 - 24455729 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	259	63
FAIM3	9214	broad.mit.edu	37	1	207087392	207087392	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207087392G>T	ENST00000367091.3	-	2	228	c.85C>A	c.(85-87)Ctg>Atg	p.L29M	FAIM3_ENST00000420007.2_Missense_Mutation_p.L29M|FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000442471.2_Intron	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	29					anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					GATCCGCCCAGCTCCCCCTCT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	102	107			NA	NA	1		NA											NA				207087392		2203	4300	6503	SO:0001583	missense			AF057557	CCDS1473.1, CCDS44304.1	1q32.1	2013-01-11			ENSG00000162894	ENSG00000162894	9214	9214		Immunoglobulin superfamily / Immunoglobulin-like domain containing	14315	protein-coding gene	gene with protein product		606015			NA	9586636, 1563211	Standard	NM_005449	NM_005449	NA	Approved	TOSO	uc001hey.3	O60667	OTTHUMG00000036457	ENST00000367091.3:c.85C>A	1.37:g.207087392G>T	ENSP00000356058:p.Leu29Met	NA	A8K7J2	37	CCDS1473.1	.	.	.	.	.	.	.	.	.	.	G	8.660	0.900391	0.17686	.	.	ENSG00000162894	ENST00000367091;ENST00000420007;ENST00000525793;ENST00000529560;ENST00000530505	T;T;T;T;T	0.04706	3.57;3.57;3.57;3.57;3.57	5.28	2.18	0.27775	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.370929	0.19644	N	0.109386	T	0.07503	0.0189	L	0.34521	1.04	0.09310	N	1	D	0.67145	0.996	P	0.61328	0.887	T	0.27400	-1.0075	10	0.33141	T	0.24	-5.8687	3.0783	0.06254	0.0978:0.1775:0.5413:0.1834	.	29	O60667	FAIM3_HUMAN	M	29;29;29;29;60	ENSP00000356058:L29M;ENSP00000403356:L29M;ENSP00000432936:L29M;ENSP00000437331:L29M;ENSP00000436316:L60M	ENSP00000356058:L29M	L	-	1	2	FAIM3	205154015	0.133000	0.22466	0.124000	0.21820	0.021000	0.10359	0.731000	0.26058	0.604000	0.29930	-0.122000	0.15005	CTG	FAIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088677.1		-	ENST00000367091.3	Missense_Mutation	SNP	1 : 207087392 - 207087392 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	681	191
OR10X1	128367	broad.mit.edu	37	1	158548724	158548724	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158548724A>G	ENST00000368150.1	-	1	965	c.966T>C	c.(964-966)gtT>gtC	p.V322V		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	322					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TTTTCAAGGCAACTGTGTTTC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	149	147			NA	NA	1		NA											NA				158548724		2203	4300	6503	SO:0001819	synonymous_variant			BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400	128367	128367		GPCR / Class A : Olfactory receptors	14995	protein-coding gene	gene with protein product			olfactory receptor, family 10, subfamily X, member 1	OR10X1P	NA		Standard	NM_001004477	NM_001004477	NA	Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.966T>C	1.37:g.158548724A>G		NA	Q6IFR8	37	CCDS30900.1																																																																																			OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051850.2		-	ENST00000368150.1	Silent	SNP	1 : 158548724 - 158548724 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1383	231
BSDC1	55108	broad.mit.edu	37	1	32842030	32842030	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32842030G>A	ENST00000341071.7	-	9	1051	c.1040C>T	c.(1039-1041)cCc>cTc	p.P347L	BSDC1_ENST00000413080.1_Missense_Mutation_p.P269L|BSDC1_ENST00000526031.1_Missense_Mutation_p.P235L|BSDC1_ENST00000419121.2_Missense_Mutation_p.P274L|BSDC1_ENST00000449308.1_Missense_Mutation_p.P330L|BSDC1_ENST00000446293.2_Missense_Mutation_p.P347L|BSDC1_ENST00000455895.2_Missense_Mutation_p.P330L			Q9NW68	BSDC1_HUMAN	BSD domain containing 1	330							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GTGAATAGGGGGTGAGGGTCC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	71	71			NA	NA	1		NA											NA				32842030		2203	4300	6503	SO:0001583	missense			BX641056	CCDS363.2, CCDS44101.1, CCDS44102.1, CCDS44103.1, CCDS72752.1	1p35.1	2008-02-05			ENSG00000160058	ENSG00000160058	55108	55108			25501	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_018045	XM_005270985	NA	Approved	FLJ10276, RP4-811H24.7	uc010ohg.2	Q9NW68	OTTHUMG00000007588	ENST00000341071.7:c.1040C>T	1.37:g.32842030G>A	ENSP00000344816:p.Pro347Leu	NA	B4DMS7|B4DTI7|B4DTP7|B4E2X8|Q49AT8|Q68DY6|Q6IAA3|Q6MZK1|Q6UXS1|Q9HAL9	37		.	.	.	.	.	.	.	.	.	.	G	8.042	0.764088	0.15914	.	.	ENSG00000160058	ENST00000455895;ENST00000413080;ENST00000341071;ENST00000526031;ENST00000419121;ENST00000446293;ENST00000449308	.	.	.	4.87	3.95	0.45737	.	0.522233	0.22742	N	0.056182	T	0.56529	0.1991	L	0.54323	1.7	0.42041	D	0.991071	B;B;B;B;B	0.22003	0.035;0.004;0.02;0.063;0.005	B;B;B;B;B	0.19666	0.026;0.016;0.009;0.026;0.004	T	0.58787	-0.7575	9	0.62326	D	0.03	-7.0418	11.2939	0.49267	0.0866:0.0:0.9134:0.0	.	235;274;347;347;330	Q9NW68-9;Q9NW68-8;Q9NW68-7;Q9NW68-3;Q9NW68	.;.;.;.;BSDC1_HUMAN	L	330;269;347;235;274;347;330	.	ENSP00000344816:P347L	P	-	2	0	BSDC1	32614617	0.989000	0.36119	0.908000	0.35775	0.112000	0.19704	4.329000	0.59260	1.372000	0.46190	0.462000	0.41574	CCC	BSDC1-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000020058.2		-	ENST00000341071.7	Missense_Mutation	SNP	1 : 32842030 - 32842030 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	604	55
IFIH1	64135	broad.mit.edu	37	2	163174679	163174679	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163174679G>A	ENST00000263642.2	-	1	534	c.139C>T	c.(139-141)Cag>Tag	p.Q47*	IFIH1_ENST00000421365.2_Nonsense_Mutation_p.Q47*	NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	47	CARD 1.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						ACTGTCCTCTGAATCTGCTCC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	69	71			NA	NA	2		NA											NA				163174679		2203	4300	6503	SO:0001587	stop_gained			AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267	64135	64135			18873	protein-coding gene	gene with protein product	helicard	606951			NA		Standard	NM_022168	NM_022168	NA	Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.139C>T	2.37:g.163174679G>A	ENSP00000263642:p.Gln47*	NA	Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	37	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	G	38	7.112797	0.98070	.	.	ENSG00000115267	ENST00000263642;ENST00000543192;ENST00000421365	.	.	.	5.73	2.7	0.31948	.	1.140500	0.06335	N	0.706983	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.5357	9.8127	0.40833	0.0:0.2537:0.4844:0.2619	.	.	.	.	X	47	.	ENSP00000263642:Q47X	Q	-	1	0	IFIH1	162882925	0.023000	0.18921	0.099000	0.21106	0.515000	0.34225	1.142000	0.31540	0.713000	0.32060	0.655000	0.94253	CAG	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255078.2		-	ENST00000263642.2	Nonsense_Mutation	SNP	2 : 163174679 - 163174679 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	240	81
LAPTM5	7805	broad.mit.edu	37	1	31230535	31230535	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31230535C>T	ENST00000294507.3	-	1	132	c.58G>A	c.(58-60)Gca>Aca	p.A20T	LAPTM5_ENST00000476492.1_5'UTR	NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	20					transport	integral to plasma membrane|lysosomal membrane				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		GCGGTGGTTGCGATGCGGACA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	THR/ALA	0,4406		0,0,2203	82	77	79		58	5.4	1	1		79	1,8599	1.2+/-3.3	0,1,4299	no	missense	LAPTM5	NM_006762.2	58	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	20/263	31230535	1,13005	2203	4300	6503	SO:0001583	missense			U51240	CCDS337.1	1p34	2009-07-20	2009-07-20		ENSG00000162511	ENSG00000162511	7805	7805			29612	protein-coding gene	gene with protein product		601476	lysosomal multispanning membrane protein 5		NA	8661146, 12527926	Standard	NM_006762	NM_006762	NA	Approved		uc001bsc.2	Q13571	OTTHUMG00000003707	ENST00000294507.3:c.58G>A	1.37:g.31230535C>T	ENSP00000294507:p.Ala20Thr	NA	Q13240|Q14698|Q3KP54	37	CCDS337.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753101	0.89753	0.0	1.16E-4	ENSG00000162511	ENST00000294507;ENST00000424259	T	0.48522	0.81	5.38	5.38	0.77491	.	0.407078	0.25361	N	0.031230	T	0.50820	0.1638	L	0.29908	0.895	0.35481	D	0.798177	D	0.89917	1.0	P	0.56216	0.794	T	0.61377	-0.7075	10	0.66056	D	0.02	-37.7545	14.5121	0.67794	0.0:1.0:0.0:0.0	.	20	Q13571	LAPM5_HUMAN	T	20	ENSP00000294507:A20T	ENSP00000294507:A20T	A	-	1	0	LAPTM5	31003122	0.983000	0.35010	0.963000	0.40424	0.567000	0.35839	3.347000	0.52200	2.793000	0.96121	0.655000	0.94253	GCA	LAPTM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000010463.1		-	ENST00000294507.3	Missense_Mutation	SNP	1 : 31230535 - 31230535 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	217	41
C5orf49	134121	broad.mit.edu	37	5	7832130	7832130	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7832130G>T	ENST00000509627.1	-	3	400	c.271C>A	c.(271-273)Ccg>Acg	p.P91T	C5orf49_ENST00000399810.2_Missense_Mutation_p.P93T			A4QMS7	CE049_HUMAN	chromosome 5 open reading frame 49	93										large_intestine(3)|lung(5)|skin(1)	9						ACTCCAACCGGCCTCTCCTGT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	130	128			NA	NA	5		NA											NA				7832130		2072	4214	6286	SO:0001583	missense				CCDS43300.1	5p15.31	2008-07-16			ENSG00000215217	ENSG00000215217	134121	134121			27028	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_001089584	NM_001089584	NA	Approved	LOC134121	uc003jea.5	A4QMS7	OTTHUMG00000161897	ENST00000509627.1:c.271C>A	5.37:g.7832130G>T	ENSP00000426019:p.Pro91Thr	NA		37		.	.	.	.	.	.	.	.	.	.	G	0.886	-0.727191	0.03158	.	.	ENSG00000215217	ENST00000399810;ENST00000509627	T;T	0.30448	1.53;1.53	4.72	3.78	0.43462	.	.	.	.	.	T	0.17066	0.0410	N	0.20685	0.6	0.32611	N	0.524627	B	0.17465	0.022	B	0.15052	0.012	T	0.20009	-1.0288	9	0.06494	T	0.89	-30.4253	10.888	0.46978	0.0:0.0:0.7548:0.2452	.	93	A4QMS7	CE049_HUMAN	T	93;91	ENSP00000382708:P93T;ENSP00000426019:P91T	ENSP00000382708:P93T	P	-	1	0	C5orf49	7885130	1.000000	0.71417	0.702000	0.30337	0.130000	0.20726	1.711000	0.37930	0.949000	0.37715	0.555000	0.69702	CCG	C5orf49-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000366323.1		-	ENST00000509627.1	Missense_Mutation	SNP	5 : 7832130 - 7832130 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	889	142
TAOK2	9344	broad.mit.edu	37	16	29998237	29998237	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29998237G>A	ENST00000308893.4	+	16	3687	c.2644G>A	c.(2644-2646)Gat>Aat	p.D882N	TAOK2_ENST00000416441.2_Missense_Mutation_p.D709N|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_Missense_Mutation_p.D769N	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	882	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GAGTCTTCTGGATGAGGAGTT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	87	87			NA	NA	16		NA											NA				29998237		2197	4300	6497	SO:0001583	missense			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930	9344	9344			16835	protein-coding gene	gene with protein product		613199			NA	10048485, 9786855	Standard	NM_016151	NM_016151	NA	Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.2644G>A	16.37:g.29998237G>A	ENSP00000310094:p.Asp882Asn	NA	A5PKY1|A7MCZ2|B2RN35|O94957|Q6UW73|Q7LC09|Q9NSW2	37	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481917	0.44147	.	.	ENSG00000149930	ENST00000308893;ENST00000543033	T;T	0.73152	-0.67;-0.72	5.32	4.37	0.52481	.	1.132340	0.06700	N	0.771279	T	0.51550	0.1681	N	0.08118	0	0.25522	N	0.987355	B;B;B	0.27498	0.18;0.0;0.18	B;B;B	0.21546	0.035;0.002;0.035	T	0.36578	-0.9742	9	.	.	.	.	11.0008	0.47604	0.0882:0.0:0.9118:0.0	.	1073;709;882	Q86V37;Q9UL54-3;Q9UL54	.;.;TAOK2_HUMAN	N	882;769	ENSP00000310094:D882N;ENSP00000440336:D769N	.	D	+	1	0	TAOK2	29905738	1.000000	0.71417	0.994000	0.49952	0.702000	0.40608	3.753000	0.55180	1.258000	0.44101	0.563000	0.77884	GAT	TAOK2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255152.2		+	ENST00000308893.4	Missense_Mutation	SNP	16 : 29998237 - 29998237 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	332	72
RIPK4	54101	broad.mit.edu	37	21	43171324	43171324	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43171324C>T	ENST00000332512.3	-	3	620	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	RIPK4_ENST00000352483.2_Missense_Mutation_p.A186T|RIPK4_ENST00000544709.1_Missense_Mutation_p.A123T|RIPK4_ENST00000542057.1_Missense_Mutation_p.A123T	NM_020639.2	NP_065690.2	Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	186						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGGAGGTAGGCGATTGTGCCA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	115	122			NA	NA	21		NA											NA				43171324		2203	4300	6503	SO:0001583	missense			AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421	54101	54101		Ankyrin repeat domain containing	496	protein-coding gene	gene with protein product	protein kinase C-associated kinase, PKC-delta-interacting protein kinase	605706	ankyrin repeat domain 3	ANKRD3	NA	10830953	Standard	NM_020639	NM_020639	NA	Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000332512.3:c.556G>A	21.37:g.43171324C>T	ENSP00000332454:p.Ala186Thr	NA		37	CCDS13675.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443555	0.83993	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	4.59	4.59	0.56863	.	0.000000	0.56097	D	0.000028	T	0.68384	0.2995	N	0.21508	0.67	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.73839	-0.3856	10	0.72032	D	0.01	-31.4363	16.3904	0.83533	0.0:1.0:0.0:0.0	.	186	P57078-2	.	T	186;186;123;123	ENSP00000332454:A186T;ENSP00000330161:A186T;ENSP00000441754:A123T;ENSP00000442901:A123T	ENSP00000332454:A186T	A	-	1	0	RIPK4	42044393	1.000000	0.71417	0.999000	0.59377	0.764000	0.43329	5.766000	0.68843	2.088000	0.63022	0.561000	0.74099	GCC	RIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195204.1		-	ENST00000332512.3	Missense_Mutation	SNP	21 : 43171324 - 43171324 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	66
ZNF777	27153	broad.mit.edu	37	7	149128930	149128930	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149128930G>A	ENST00000247930.4	-	6	2756	c.2433C>T	c.(2431-2433)tgC>tgT	p.C811C		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AGCACTTGGCGCAGTGCGTGC	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	24	23			NA	NA	7		NA											NA				149128930		2201	4295	6496	SO:0001819	synonymous_variant			AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453	27153	27153		Zinc fingers, C2H2-type, -	22213	protein-coding gene	gene with protein product					NA		Standard	NM_015694	NM_015694	NA	Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.2433C>T	7.37:g.149128930G>A		NA	Q8N2R2|Q8N659	37	CCDS43675.1																																																																																			ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352708.1		-	ENST00000247930.4	Silent	SNP	7 : 149128930 - 149128930 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	202	26
TCEB2	6923	broad.mit.edu	37	16	2822078	2822078	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2822078G>A	ENST00000572954.1	-	3	196	c.164C>T	c.(163-165)tCg>tTg	p.S55L	TCEB2_ENST00000409906.4_Silent_p.I90I|TCEB2_ENST00000262306.7_Silent_p.I90I|TCEB2_ENST00000409477.1_Silent_p.I85I			Q15370	ELOB_HUMAN	transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B)	0	Ubiquitin-like.				positive regulation of viral transcription|protein complex assembly|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|nucleoplasm	protein binding	p.I90I(1)		endometrium(2)|prostate(1)	3						AAAACGGCTCGATGCACAGGG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(141;5215 5962)							NA				1	Substitution - coding silent(1)	endometrium(1)											32	31	31			NA	NA	16		NA											NA				2822078		2198	4300	6498	SO:0001583	missense			L42856	CCDS32374.1, CCDS45387.1	16p12.3	2008-02-05	2002-08-29		ENSG00000103363	ENSG00000103363	6923	6923			11619	protein-coding gene	gene with protein product		600787	transcription elongation factor B (SIII), polypeptide 2 (18kD, elongin B)		NA	7638163	Standard	NM_007108	NM_007108	NA	Approved	SIII	uc002crm.3	Q15370	OTTHUMG00000154125	ENST00000572954.1:c.164C>T	16.37:g.2822078G>A	ENSP00000458443:p.Ser55Leu	NA		37																																																																																				TCEB2-005	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000436444.1		-	ENST00000572954.1	Missense_Mutation	SNP	16 : 2822078 - 2822078 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	189	14
TSHZ1	10194	broad.mit.edu	37	18	72997452	72997452	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72997452C>T	ENST00000580243.1	+	2	438	c.90C>T	c.(88-90)caC>caT	p.H30H	TSHZ1_ENST00000322038.5_5'UTR			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	30						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		ATGAAGAGCACGTGGAGGATG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	23	22			NA	NA	18		NA											NA				72997452		2183	4248	6431	SO:0001819	synonymous_variant			AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981	10194	10194		Teashirt zinc fingers, Homeoboxes / ZF class, Zinc fingers, C2H2-type	10669	protein-coding gene	gene with protein product		614427	serologically defined colon cancer antigen 33, teashirt zinc finger 1, teashirt family zinc finger 1	SDCCAG33	NA	17586487	Standard	NM_005786	NM_005786	NA	Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.90C>T	18.37:g.72997452C>T		NA	O60534|Q4LE29|Q53EU4	37																																																																																				TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000444913.1		+	ENST00000580243.1	Silent	SNP	18 : 72997452 - 72997452 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	137	20
CAMSAP1	157922	broad.mit.edu	37	9	138714825	138714825	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138714825C>A	ENST00000389532.4	-	11	1746	c.1682G>T	c.(1681-1683)aGg>aTg	p.R561M	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.R572M|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.R283M	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	561						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GGGTGAGGCCCTGGGGAACTC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	147	142			NA	NA	9		NA											NA				138714825		2203	4300	6503	SO:0001583	missense			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559	157922	157922			19946	protein-coding gene	gene with protein product		613774			NA	12477932	Standard	XM_351857	NM_015447	NA	Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.1682G>T	9.37:g.138714825C>A	ENSP00000374183:p.Arg561Met	NA	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	37	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	C	6.973	0.549591	0.13374	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.15256	2.44;2.44;2.44	3.66	3.66	0.41972	.	0.749151	0.12663	N	0.449442	T	0.16257	0.0391	N	0.22421	0.69	0.09310	N	1	P;P	0.51351	0.79;0.944	B;P	0.47981	0.365;0.563	T	0.08166	-1.0735	10	0.87932	D	0	-38.7949	9.8064	0.40795	0.0:0.8848:0.0:0.1152	.	561;572	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	M	561;283;572	ENSP00000374183:R561M;ENSP00000312463:R283M;ENSP00000386420:R572M	ENSP00000312463:R283M	R	-	2	0	CAMSAP1	137854646	0.008000	0.16893	0.005000	0.12908	0.014000	0.08584	1.419000	0.34793	1.575000	0.49775	0.655000	0.94253	AGG	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055024.2		-	ENST00000389532.4	Missense_Mutation	SNP	9 : 138714825 - 138714825 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1043	158
ZNF804A	91752	broad.mit.edu	37	2	185803264	185803264	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:185803264A>G	ENST00000302277.6	+	4	3735	c.3141A>G	c.(3139-3141)gtA>gtG	p.V1047V		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1047						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TCAAAAATGTACCATGTGAGG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	74	76			NA	NA	2		NA											NA				185803264		2203	4300	6503	SO:0001819	synonymous_variant			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396	91752	91752			21711	protein-coding gene	gene with protein product		612282		C2orf10	NA	12970790	Standard	NM_194250	NM_194250	NA	Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.3141A>G	2.37:g.185803264A>G		NA	A7E253|Q6ZN26	37	CCDS2291.1																																																																																			ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255871.1		+	ENST00000302277.6	Silent	SNP	2 : 185803264 - 185803264 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	633	153
GRIA1	2890	broad.mit.edu	37	5	153056565	153056565	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:153056565G>A	ENST00000518783.1	+	7	930	c.903G>A	c.(901-903)gcG>gcA	p.A301A	GRIA1_ENST00000521843.2_Silent_p.A222A|GRIA1_ENST00000340592.5_Silent_p.A291A|GRIA1_ENST00000518142.1_Silent_p.A211A|GRIA1_ENST00000285900.5_Silent_p.A291A|GRIA1_ENST00000448073.4_Silent_p.A301A	NM_001258021.1	NP_001244950.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	291					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACACCTCTGCGCTCACCTACG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	83	83			NA	NA	5		NA											NA				153056565		2203	4300	6503	SO:0001819	synonymous_variant				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511	NA	2890		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4571	protein-coding gene	gene with protein product		138248		GLUR1	NA	1652753, 1319477	Standard		NM_000827	NA	Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000518783.1:c.903G>A	5.37:g.153056565G>A		NA	D3DQI4|Q2NKM6	37	CCDS58987.1																																																																																			GRIA1-007	KNOWN	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373902.3		+	ENST00000518783.1	Silent	SNP	5 : 153056565 - 153056565 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	83
HGS	9146	broad.mit.edu	37	17	79662228	79662228	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79662228C>A	ENST00000329138.4	+	14	1289	c.1154C>A	c.(1153-1155)cCt>cAt	p.P385H		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	385	Interaction with SNX1 (By similarity).|Pro-rich.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CAGCCCATTCCTCCCTCTGGT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	99	100			NA	NA	17		NA											NA				79662228		2203	4300	6503	SO:0001583	missense			D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359	9146	9146		Zinc fingers, FYVE domain containing	4897	protein-coding gene	gene with protein product		604375			NA	9407053, 9630564	Standard	NM_004712	NM_004712	NA	Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.1154C>A	17.37:g.79662228C>A	ENSP00000331201:p.Pro385His	NA	Q9NR36	37	CCDS11784.1	.	.	.	.	.	.	.	.	.	.	C	9.842	1.191329	0.21954	.	.	ENSG00000185359	ENST00000329138;ENST00000442335	T	0.38240	1.15	3.87	2.89	0.33648	.	1.405290	0.04662	N	0.409156	T	0.20740	0.0499	N	0.08118	0	0.09310	N	1	B	0.22003	0.063	B	0.25291	0.059	T	0.24835	-1.0149	10	0.49607	T	0.09	-0.052	2.7002	0.05146	0.191:0.5197:0.1848:0.1044	.	385	O14964	HGS_HUMAN	H	385	ENSP00000331201:P385H	ENSP00000331201:P385H	P	+	2	0	HGS	77272633	0.000000	0.05858	0.001000	0.08648	0.803000	0.45373	0.759000	0.26461	0.806000	0.34183	0.313000	0.20887	CCT	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000440541.1		+	ENST00000329138.4	Missense_Mutation	SNP	17 : 79662228 - 79662228 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	618	124
RSPO1	284654	broad.mit.edu	37	1	38082189	38082189	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38082189C>T	ENST00000401069.1	-	4	965	c.253G>A	c.(253-255)Gac>Aac	p.D85N	RSPO1_ENST00000401068.1_Missense_Mutation_p.D85N|RSPO1_ENST00000373059.1_Missense_Mutation_p.D58N|RSPO1_ENST00000356545.2_Missense_Mutation_p.D85N|RSPO1_ENST00000401071.2_Missense_Mutation_p.D85N|RSPO1_ENST00000401070.1_Missense_Mutation_p.D85N	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	85					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTGCGGGCGTCGAAGTATCCA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(122;680 2230 27822 42821)							NA				0													53	56	55			NA	NA	1		NA											NA				38082189		2013	4170	6183	SO:0001583	missense			AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218	284654	284654		Endogenous ligands	21679	protein-coding gene	gene with protein product		609595	R-spondin homolog (Xenopus laevis)		NA		Standard	NM_173640	NM_001038633	NA	Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.253G>A	1.37:g.38082189C>T	ENSP00000383847:p.Asp85Asn	NA	A2A420|Q14C72|Q5T0F2|Q8N7L5	37	CCDS41304.1	.	.	.	.	.	.	.	.	.	.	C	35	5.465498	0.96257	.	.	ENSG00000169218	ENST00000373059;ENST00000401070;ENST00000356545;ENST00000401071;ENST00000401069;ENST00000401068	T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	5.79	5.79	0.91817	Growth factor, receptor (1);	0.053446	0.85682	D	0.000000	T	0.77150	0.4088	N	0.21508	0.67	0.58432	D	0.99999	D;D;D	0.67145	0.996;0.975;0.957	P;P;B	0.52031	0.688;0.477;0.284	T	0.79916	-0.1601	10	0.72032	D	0.01	.	20.0341	0.97551	0.0:1.0:0.0:0.0	.	85;58;85	Q0H8S6;Q2MKA7-2;Q2MKA7	.;.;RSPO1_HUMAN	N	58;85;85;85;85;85	ENSP00000362150:D58N;ENSP00000383848:D85N;ENSP00000348944:D85N;ENSP00000383849:D85N;ENSP00000383847:D85N;ENSP00000383846:D85N	ENSP00000348944:D85N	D	-	1	0	RSPO1	37854776	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.609000	0.82925	2.753000	0.94483	0.555000	0.69702	GAC	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000012477.2		-	ENST00000401069.1	Missense_Mutation	SNP	1 : 38082189 - 38082189 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	277	66
PPP1R21	129285	broad.mit.edu	37	2	48734492	48734492	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48734492G>A	ENST00000294952.8	+	19	2210	c.2053G>A	c.(2053-2055)Gct>Act	p.A685T	PPP1R21_ENST00000449090.2_Missense_Mutation_p.A643T|PPP1R21_ENST00000476199.1_3'UTR|PPP1R21_ENST00000281394.4_Missense_Mutation_p.A674T	NM_001135629.2	NP_001129101.1	Q6ZMI0	KLRAQ_HUMAN	protein phosphatase 1, regulatory subunit 21	685										endometrium(2)|kidney(4)|lung(9)	15						GTTGCAGCTGGCTGACAGTAA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	149	155			NA	NA	2		NA											NA				48734492		2203	4300	6503	SO:0001583	missense			AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869	129285	129285		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	30595	protein-coding gene	gene with protein product			coiled-coil domain containing 128, KLRAQ motif containing 1	CCDC128, KLRAQ1	NA	12477932	Standard	NM_152994	NM_001135629	NA	Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.2053G>A	2.37:g.48734492G>A	ENSP00000294952:p.Ala685Thr	NA	B7ZKY5|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	37	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469891	0.84533	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.01	5.01	0.66863	.	0.106709	0.64402	D	0.000004	T	0.60508	0.2274	M	0.72894	2.215	0.54753	D	0.999986	P;P;B	0.49559	0.925;0.645;0.161	B;B;B	0.43838	0.433;0.41;0.116	T	0.59690	-0.7407	9	0.20519	T	0.43	-13.0053	18.8654	0.92290	0.0:0.0:1.0:0.0	.	643;685;674	E1B6W7;Q6ZMI0;Q6ZMI0-2	.;PPR21_HUMAN;.	T	674;685;643	.	ENSP00000281394:A674T	A	+	1	0	KLRAQ1	48587996	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.416000	0.66417	2.751000	0.94390	0.655000	0.94253	GCT	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251238.4		+	ENST00000294952.8	Missense_Mutation	SNP	2 : 48734492 - 48734492 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	421	88
SLC51A	200931	broad.mit.edu	37	3	195959986	195959986	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195959986A>G	ENST00000296327.5	+	9	1148	c.939A>G	c.(937-939)acA>acG	p.T313T	PCYT1A_ENST00000419333.1_Intron	NM_152672.5	NP_689885.4			solute carrier family 51, alpha subunit	NA											NA						CTGTGCTGACACGAATGTACT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													189	164	172			NA	NA	3		NA											NA				195959986		2203	4300	6503	SO:0001819	synonymous_variant				CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959	200931	200931		Solute carriers	29955	protein-coding gene	gene with protein product	organic solute transporter, alpha subunit	612084			NA	12719432, 20538072	Standard	NM_152672	NM_152672	NA	Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.939A>G	3.37:g.195959986A>G		NA		37	CCDS3314.1																																																																																			SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341253.1		+	ENST00000296327.5	Silent	SNP	3 : 195959986 - 195959986 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	745	125
MKL2	57496	broad.mit.edu	37	16	14340860	14340860	+	Silent	SNP	C	C	T	rs148779363	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14340860C>T	ENST00000571589.1	+	12	1915	c.1743C>T	c.(1741-1743)atC>atT	p.I581I	MKL2_ENST00000574045.1_Silent_p.I581I|MKL2_ENST00000341243.5_Silent_p.I570I|MKL2_ENST00000318282.5_Silent_p.I581I	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	570	Required for interaction with itself and with MKL1.				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	p.I581I(3)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGAAGCAAATCGAAGAGCTGA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				3	Substitution - coding silent(3)	large_intestine(2)|lung(1)						C		0,4394		0,0,2197	37	39	38		1743	-5.9	0.8	16	dbSNP_134	38	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	MKL2	NM_014048.3		0,3,6494	TT,TC,CC	NA	0.0349,0.0,0.0231		581/1050	14340860	3,12991	2197	4300	6497	SO:0001819	synonymous_variant			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260	57496	57496			29819	protein-coding gene	gene with protein product		609463			NA	10574462	Standard	NM_014048	NM_014048	NA	Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000571589.1:c.1743C>T	16.37:g.14340860C>T		NA	A6ND53|Q68CT1|Q6UB16|Q86WW2|Q8N226	37																																																																																				MKL2-001	NOVEL	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000436621.1		+	ENST00000571589.1	Silent	SNP	16 : 14340860 - 14340860 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	272	40
MEP1A	4224	broad.mit.edu	37	6	46787418	46787418	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46787418T>G	ENST00000230588.4	+	7	542	c.533T>G	c.(532-534)aTc>aGc	p.I178S		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	178	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TATGTGAACATCTGGTGGGAC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													301	280	287			NA	NA	6		NA											NA				46787418		2203	4300	6503	SO:0001583	missense				CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	4224	4224	3.4.24.18		7015	protein-coding gene	gene with protein product		600388			NA	7774936	Standard	NM_005588	NM_005588	NA	Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.533T>G	6.37:g.46787418T>G	ENSP00000230588:p.Ile178Ser	NA	A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	37	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.734390	0.89482	.	.	ENSG00000112818	ENST00000230588	T	0.72615	-0.67	5.81	5.81	0.92471	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89441	0.6716	H	0.98664	4.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93521	0.6861	10	0.87932	D	0	-26.6282	16.1678	0.81782	0.0:0.0:0.0:1.0	.	206;178	B7ZL91;Q16819	.;MEP1A_HUMAN	S	178	ENSP00000230588:I178S	ENSP00000230588:I178S	I	+	2	0	MEP1A	46895377	1.000000	0.71417	0.994000	0.49952	0.960000	0.62799	7.698000	0.84413	2.218000	0.71995	0.528000	0.53228	ATC	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040803.1		+	ENST00000230588.4	Missense_Mutation	SNP	6 : 46787418 - 46787418 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1005	170
DPYS	1807	broad.mit.edu	37	8	105456654	105456654	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105456654C>A	ENST00000351513.2	-	4	747	c.615G>T	c.(613-615)aaG>aaT	p.K205N		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	205					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GAGCCAACATCTTCTTTGCTC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	50	51			NA	NA	8		NA											NA				105456654		2203	4300	6503	SO:0001583	missense			D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647	1807	1807			3013	protein-coding gene	gene with protein product		613326			NA	8973361	Standard	NM_001385	NM_001385	NA	Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.615G>T	8.37:g.105456654C>A	ENSP00000276651:p.Lys205Asn	NA		37	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026521	0.54683	.	.	ENSG00000147647	ENST00000351513	D	0.89939	-2.59	5.67	3.85	0.44370	Amidohydrolase 1 (1);	0.049823	0.85682	N	0.000000	D	0.87601	0.6218	M	0.72576	2.205	0.40661	D	0.982129	B	0.27229	0.172	B	0.35655	0.207	D	0.84252	0.0478	10	0.87932	D	0	-8.3477	5.362	0.16093	0.1443:0.6411:0.0:0.2146	.	205	Q14117	DPYS_HUMAN	N	205	ENSP00000276651:K205N	ENSP00000276651:K205N	K	-	3	2	DPYS	105525830	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.301000	0.43628	0.714000	0.32081	0.655000	0.94253	AAG	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380814.1		-	ENST00000351513.2	Missense_Mutation	SNP	8 : 105456654 - 105456654 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	255	18
TRIOBP	11078	broad.mit.edu	37	22	38165063	38165063	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38165063C>T	ENST00000406386.3	+	20	6859	c.6604C>T	c.(6604-6606)Ctg>Ttg	p.L2202L	TRIOBP_ENST00000403663.2_Silent_p.L489L	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2202					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAAGCGAGAGCTGCAGGTGCT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	55	53			NA	NA	22		NA											NA				38165063		2186	4298	6484	SO:0001819	synonymous_variant			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106	11078	11078		Pleckstrin homology (PH) domain containing	17009	protein-coding gene	gene with protein product		609761		DFNB28	NA	11148140, 16385457, 16385458	Standard		NM_001039141	NA	Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.6604C>T	22.37:g.38165063C>T		NA	B1AHD4|B1AHD7|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	37	CCDS43015.1																																																																																			TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319439.2		+	ENST00000406386.3	Silent	SNP	22 : 38165063 - 38165063 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	394	59
TMEM187	8269	broad.mit.edu	37	X	153247784	153247784	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153247784G>A	ENST00000369982.4	+	2	1018	c.271G>A	c.(271-273)Gcc>Acc	p.A91T		NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	91						integral to membrane|transport vesicle				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGTGTTCGCAGCCATGGCCCT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	23	26			NA	NA	X		NA											NA				153247784		2200	4298	6498	SO:0001583	missense			X92475	CCDS14739.1	Xq28	2007-03-14	2007-03-14	2007-03-14	ENSG00000177854	ENSG00000177854	8269	8269			13705	protein-coding gene	gene with protein product		300059	chromosome X open reading frame 12	CXorf12	NA	8661027	Standard	NM_003492	NM_003492	NA	Approved	ITBA1, DXS9878E	uc004fjq.2	Q14656	OTTHUMG00000024220	ENST00000369982.4:c.271G>A	X.37:g.153247784G>A	ENSP00000358999:p.Ala91Thr	NA	B2RC47|Q6IAV7	37	CCDS14739.1	.	.	.	.	.	.	.	.	.	.	G	6.785	0.513782	0.12944	.	.	ENSG00000177854	ENST00000369982	T	0.23147	1.92	4.27	-1.51	0.08664	.	1.777300	0.04247	U	0.337950	T	0.18467	0.0443	L	0.44542	1.39	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.17745	-1.0359	10	0.27785	T	0.31	.	0.6656	0.00850	0.4055:0.1278:0.2049:0.2618	.	91	Q14656	TM187_HUMAN	T	91	ENSP00000358999:A91T	ENSP00000358999:A91T	A	+	1	0	TMEM187	152900978	0.000000	0.05858	0.001000	0.08648	0.031000	0.12232	-0.160000	0.10041	-0.605000	0.05753	0.436000	0.28706	GCC	TMEM187-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000061093.1		+	ENST00000369982.4	Missense_Mutation	SNP	X : 153247784 - 153247784 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	126	44
EDNRB	1910	broad.mit.edu	37	13	78477491	78477491	+	Nonsense_Mutation	SNP	G	G	A	rs104894391		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:78477491G>A	ENST00000377211.4	-	4	1023	c.871C>T	c.(871-873)Cga>Tga	p.R291*	EDNRB_ENST00000334286.5_Nonsense_Mutation_p.R201*|EDNRB_ENST00000446573.1_Nonsense_Mutation_p.R201*	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	201					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	GCAACAGCTCGATATCTGAAG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM020406	EDNRB	M	rs104894391	G	stop/ARG,stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	84	93	90	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	601,601,871,601	4.2	1	13	dbSNP_132	90	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained,stop-gained	EDNRB	NM_000115.3,NM_001122659.2,NM_001201397.1,NM_003991.3	,,,	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	,,,	201/443,201/443,291/533,201/437	78477491	1,13005	2203	4300	6503	SO:0001587	stop_gained			L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160	1910	1910		GPCR / Class A : Endothelin receptors	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR	NA	1659806, 9556633	Standard		NM_000115	NA	Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000377211.4:c.871C>T	13.37:g.78477491G>A	ENSP00000366416:p.Arg291*	NA	A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	37	CCDS55902.1	.	.	.	.	.	.	.	.	.	.	G	37	6.588172	0.97684	0.0	1.16E-4	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	.	.	.	5.14	4.23	0.50019	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.3691	14.7119	0.69238	0.0:0.0:0.8544:0.1456	.	.	.	.	X	291;201;201	.	ENSP00000335311:R201X	R	-	1	2	EDNRB	77375492	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	4.477000	0.60223	2.521000	0.84997	0.650000	0.86243	CGA	EDNRB-001	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045350.3		-	ENST00000377211.4	Nonsense_Mutation	SNP	13 : 78477491 - 78477491 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	515	79
CPAMD8	27151	broad.mit.edu	37	19	17010326	17010326	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17010326T>C	ENST00000443236.1	-	37	4980	c.4949A>G	c.(4948-4950)tAt>tGt	p.Y1650C		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1603						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AGCCACTTCATACCTCTTCAT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	75	73			NA	NA	19		NA											NA				17010326		2087	4224	6311	SO:0001583	missense			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111	27151	27151			23228	protein-coding gene	gene with protein product		608841			NA	10574462	Standard	NM_015692	NM_015692	NA	Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.4949A>G	19.37:g.17010326T>C	ENSP00000402505:p.Tyr1650Cys	NA	Q8NC09|Q9ULD7	37	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.02|18.02	3.530404|3.530404	0.64860|0.64860	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000443236|ENST00000291440	.|.	.|.	.|.	2.88|2.88	2.88|2.88	0.33553|0.33553	.|Alpha-macroglobulin, receptor-binding (3);	.|0.000000	.|0.64402	.|U	.|0.000013	T|T	0.79713|0.79713	0.4493|0.4493	M|M	0.89095|0.89095	3.005|3.005	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.79784	.|0.993	T|T	0.81992|0.81992	-0.0678|-0.0678	5|9	.|0.56958	.|D	.|0.05	.|.	11.2812|11.2812	0.49195|0.49195	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1603	.|Q8IZJ3	.|CPMD8_HUMAN	V|C	1661|1650	.|.	.|ENSP00000291440:Y1650C	M|Y	-|-	1|2	0|0	CPAMD8|CPAMD8	16871326|16871326	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	5.702000|5.702000	0.68332|0.68332	1.123000|1.123000	0.41961|0.41961	0.444000|0.444000	0.29173|0.29173	ATG|TAT	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257531.2		-	ENST00000443236.1	Missense_Mutation	SNP	19 : 17010326 - 17010326 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	286	44
ADCY10	55811	broad.mit.edu	37	1	167778989	167778989	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167778989C>A	ENST00000367848.1	-	33	4980	c.4483G>T	c.(4483-4485)Ggc>Tgc	p.G1495C	ADCY10_ENST00000545172.1_Missense_Mutation_p.G1434C|ADCY10_ENST00000367851.4_Missense_Mutation_p.G1587C			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1587					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTTACCCTGCCTGCTACAATT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	134	136			NA	NA	1		NA											NA				167778989		2203	4300	6503	SO:0001583	missense			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	55811	55811	4.6.1.1	Adenylate cyclases	21285	protein-coding gene	gene with protein product	soluble adenylyl cyclase, Hypercalciuria, absorptive, 2	605205			NA		Standard	NM_018417	XM_006711449	NA	Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367848.1:c.4483G>T	1.37:g.167778989C>A	ENSP00000356822:p.Gly1495Cys	NA	O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	37		.	.	.	.	.	.	.	.	.	.	C	16.90	3.251182	0.59212	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.35048	1.33;1.33;1.33	5.54	2.62	0.31277	.	0.354480	0.24542	N	0.037632	T	0.36853	0.0982	M	0.63428	1.95	0.36856	D	0.888131	D;D	0.71674	0.998;0.997	D;P	0.63192	0.912;0.819	T	0.36311	-0.9753	9	0.87932	D	0	-7.3277	8.1789	0.31298	0.0:0.7399:0.0:0.2601	.	1495;1587	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	C	1434;1587;1495	ENSP00000441992:G1434C;ENSP00000356825:G1587C;ENSP00000356822:G1495C	ENSP00000356822:G1495C	G	-	1	0	ADCY10	166045613	0.036000	0.19791	0.018000	0.16275	0.173000	0.22820	1.456000	0.35201	0.702000	0.31825	0.655000	0.94253	GGC	ADCY10-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000083664.1		-	ENST00000367848.1	Missense_Mutation	SNP	1 : 167778989 - 167778989 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	569	24
ATP9B	374868	broad.mit.edu	37	18	77090061	77090061	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77090061C>T	ENST00000426216.2	+	17	2002	c.1985C>T	c.(1984-1986)gCc>gTc	p.A662V	ATP9B_ENST00000307671.7_Missense_Mutation_p.A662V	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	662					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GCTGACGTGGCCATGTCTCCT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	136	144			NA	NA	18		NA											NA				77090061		2203	4300	6503	SO:0001583	missense			R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377	374868	374868		ATPases / P-type	13541	protein-coding gene	gene with protein product		614446	ATPase, Class II, type 9B		NA	9548971, 11015572	Standard	NM_198531	NM_198531	NA	Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.1985C>T	18.37:g.77090061C>T	ENSP00000398076:p.Ala662Val	NA	O60872|Q08AD8|Q08AD9	37	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	C	0.047	-1.262139	0.01445	.	.	ENSG00000166377	ENST00000426216;ENST00000307671	T;T	0.68765	-0.35;-0.35	5.45	3.61	0.41365	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.106419	0.64402	N	0.000006	T	0.27866	0.0686	N	0.00500	-1.43	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.38243	-0.9670	10	0.02654	T	1	.	11.2144	0.48817	0.0:0.8474:0.0:0.1526	.	662;662	O43861;O43861-2	ATP9B_HUMAN;.	V	662	ENSP00000398076:A662V;ENSP00000304500:A662V	ENSP00000304500:A662V	A	+	2	0	ATP9B	75191049	0.006000	0.16342	0.387000	0.26183	0.021000	0.10359	0.127000	0.15790	0.621000	0.30232	0.655000	0.94253	GCC	ATP9B-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256402.3		+	ENST00000426216.2	Missense_Mutation	SNP	18 : 77090061 - 77090061 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	378	52
FSIP2	401024	broad.mit.edu	37	2	186672574	186672574	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:186672574G>T	ENST00000424728.1	+	17	18541	c.18541G>T	c.(18541-18543)Gaa>Taa	p.E6181*	FSIP2_ENST00000343098.5_Nonsense_Mutation_p.E6270*					fibrous sheath interacting protein 2	NA										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CATAATAGAAGAAATTGCTGT	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	42	44			NA	NA	2		NA											NA				186672574		1797	4061	5858	SO:0001587	stop_gained			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738	401024	401024			21675	protein-coding gene	gene with protein product		615796			NA	14702039	Standard	NM_173651	NM_173651	NA	Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.18541G>T	2.37:g.186672574G>T	ENSP00000401306:p.Glu6181*	NA		37		.	.	.	.	.	.	.	.	.	.	G	57	29.478575	0.99975	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	.	.	.	4.96	3.11	0.35812	.	0.364751	0.23740	N	0.045026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	5.3689	0.16129	0.1048:0.0:0.6956:0.1996	.	.	.	.	X	6270;6181	.	ENSP00000344403:E6270X	E	+	1	0	FSIP2	186380819	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	3.229000	0.51278	0.645000	0.30675	0.484000	0.47621	GAA	FSIP2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000332778.3		+	ENST00000424728.1	Nonsense_Mutation	SNP	2 : 186672574 - 186672574 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	249	69
SAMD15	161394	broad.mit.edu	37	14	77857396	77857396	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77857396T>G	ENST00000216471.4	+	3	2120	c.1834T>G	c.(1834-1836)Tta>Gta	p.L612V	SAMD15_ENST00000533095.2_Missense_Mutation_p.L26V	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	612										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGAAGAGCCATTATTCAAACG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	69	69			NA	NA	14		NA											NA				77857396		2203	4300	6503	SO:0001583	missense			AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583	161394	161394		Sterile alpha motif (SAM) domain containing	18631	protein-coding gene	gene with protein product			family with sequence similarity 15, member A, chromosome 14 open reading frame 174	FAM15A, C14orf174	NA		Standard	NM_001010860	XM_006720069	NA	Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.1834T>G	14.37:g.77857396T>G	ENSP00000216471:p.Leu612Val	NA	Q2M3P3	37	CCDS32126.1	.	.	.	.	.	.	.	.	.	.	T	11.23	1.576316	0.28092	.	.	ENSG00000100583	ENST00000533095;ENST00000216471	T	0.20200	2.09	5.43	1.72	0.24424	Sterile alpha motif/pointed domain (1);	.	.	.	.	T	0.24392	0.0591	L	0.43152	1.355	0.19945	N	0.999946	P	0.44380	0.834	P	0.51385	0.668	T	0.12426	-1.0548	9	0.54805	T	0.06	-1.7538	4.1866	0.10400	0.0:0.2663:0.1712:0.5625	.	612	Q9P1V8	SAM15_HUMAN	V	26;612	ENSP00000216471:L612V	ENSP00000216471:L612V	L	+	1	2	SAMD15	76927149	0.030000	0.19436	0.255000	0.24374	0.507000	0.33981	-0.297000	0.08276	0.051000	0.15978	0.528000	0.53228	TTA	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394587.2		+	ENST00000216471.4	Missense_Mutation	SNP	14 : 77857396 - 77857396 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	61
H2AFZ	3015	broad.mit.edu	37	4	100870869	100870869	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100870869C>T	ENST00000296417.5	-	2	249	c.32G>A	c.(31-33)gGa>gAa	p.G11E	H2AFZ_ENST00000529158.1_5'UTR	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	11	Required for interaction with INCENP (By similarity).				nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		CTTGGCCTTTCCGGAGTCCTT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	80	77			NA	NA	4		NA											NA				100870869		2203	4300	6503	SO:0001583	missense			X52317	CCDS3654.1	4q23	2011-01-27			ENSG00000164032	ENSG00000164032	3015	3015		Histones / Replication-independent	4741	protein-coding gene	gene with protein product		142763		H2AZ	NA	1697587	Standard	NM_002106	XM_005262971	NA	Approved	H2A.Z	uc003hvo.1	P0C0S5	OTTHUMG00000131048	ENST00000296417.5:c.32G>A	4.37:g.100870869C>T	ENSP00000296417:p.Gly11Glu	NA	B2RD56|P17317|Q6I9U0	37	CCDS3654.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.408380	0.62399	.	.	ENSG00000164032	ENST00000296417	D	0.84730	-1.89	3.09	1.24	0.21308	Histone-fold (2);Histone H2A (1);	0.051378	0.85682	D	0.000000	D	0.83298	0.5224	M	0.83012	2.62	0.54753	D	0.999985	B	0.17038	0.02	B	0.04013	0.001	T	0.79303	-0.1859	10	0.59425	D	0.04	-3.6892	8.7116	0.34387	0.0:0.8018:0.0:0.1982	.	11	P0C0S5	H2AZ_HUMAN	E	11	ENSP00000296417:G11E	ENSP00000296417:G11E	G	-	2	0	H2AFZ	101089892	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.959000	0.63666	0.507000	0.28148	0.455000	0.32223	GGA	H2AFZ-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253695.1		-	ENST00000296417.5	Missense_Mutation	SNP	4 : 100870869 - 100870869 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	751	127
NEFH	4744	broad.mit.edu	37	22	29881809	29881809	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29881809C>T	ENST00000310624.6	+	3	1214	c.1181C>T	c.(1180-1182)gCt>gTt	p.A394V		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	394	Coil 2B.|Rod.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GTCAAGATGGCTCTGGATATA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	78	82			NA	NA	22		NA											NA				29881809		2203	4300	6503	SO:0001583	missense				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285	4744	4744		Intermediate filaments type IV	7737	protein-coding gene	gene with protein product		162230	neurofilament, heavy polypeptide 200kDa		NA		Standard	NM_021076	NM_021076	NA	Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1181C>T	22.37:g.29881809C>T	ENSP00000311997:p.Ala394Val	NA	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	37	CCDS13858.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793327	0.90453	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.90900	-2.75	5.67	5.67	0.87782	Filament (1);	0.278833	0.25720	N	0.028746	D	0.96728	0.8932	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97172	0.9845	10	0.87932	D	0	.	19.8245	0.96612	0.0:1.0:0.0:0.0	.	394	P12036	NFH_HUMAN	V	394	ENSP00000311997:A394V	ENSP00000311997:A394V	A	+	2	0	NEFH	28211809	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.814000	0.86154	2.692000	0.91855	0.650000	0.86243	GCT	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321553.2		+	ENST00000310624.6	Missense_Mutation	SNP	22 : 29881809 - 29881809 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	355	63
MYBL2	4605	broad.mit.edu	37	20	42328479	42328479	+	Missense_Mutation	SNP	C	C	T	rs142211101	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42328479C>T	ENST00000217026.4	+	7	873	c.746C>T	c.(745-747)aCc>aTc	p.T249I	MYBL2_ENST00000396863.4_Missense_Mutation_p.T225I	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	249						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GCAGCAGCCACCACATCGAAG	0.552		NA											C	2	9e-04	NA	NA	2184	0.0035	1	,	,	NA	5e-04	NA	NA	NA	9e-04	0.9768	LOWCOV,EXOME	NA	NA	9e-04	SNP								NA				0													81	68	72			NA	NA	20		NA											NA				42328479		2203	4300	6503	SO:0001583	missense				CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057	4605	4605			7548	protein-coding gene	gene with protein product		601415			NA	8812502	Standard	NM_002466	NM_002466	NA	Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.746C>T	20.37:g.42328479C>T	ENSP00000217026:p.Thr249Ile	NA	B2RBS5	37	CCDS13322.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	11.82	1.751527	0.31046	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	T;T	0.15017	2.46;2.46	4.77	4.77	0.60923	.	1.690320	0.02888	N	0.133759	T	0.13500	0.0327	N	0.14661	0.345	0.09310	N	1	B;B	0.34103	0.135;0.437	B;B	0.27500	0.071;0.08	T	0.24548	-1.0157	10	0.36615	T	0.2	-3.3195	14.0289	0.64604	0.0:1.0:0.0:0.0	.	225;249	F8W6N6;P10244	.;MYBB_HUMAN	I	225;249	ENSP00000380072:T225I;ENSP00000217026:T249I	ENSP00000217026:T249I	T	+	2	0	MYBL2	41761893	0.002000	0.14202	0.006000	0.13384	0.046000	0.14306	0.854000	0.27791	2.575000	0.86900	0.650000	0.86243	ACC	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080408.1		+	ENST00000217026.4	Missense_Mutation	SNP	20 : 42328479 - 42328479 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	197	9
DCDC1	341019	broad.mit.edu	37	11	31115709	31115709	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:31115709T>C	ENST00000597505.1	-	14	2005	c.2006A>G	c.(2005-2007)cAt>cGt	p.H669R	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	84					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AACAGAGGCATGAAGGACAAT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	111	110			NA	NA	11		NA											NA				31115709		2065	4227	6292	SO:0001583	missense			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959	341019	341019			20625	protein-coding gene	gene with protein product		608062			NA	12820024	Standard	NM_181807	NM_181807	NA	Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.2006A>G	11.37:g.31115709T>C	ENSP00000472625:p.His669Arg	NA	A6PVL6	37																																																																																				DCDC1-010	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000463167.1		-	ENST00000597505.1	Missense_Mutation	SNP	11 : 31115709 - 31115709 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	385	71
ISYNA1	51477	broad.mit.edu	37	19	18547207	18547207	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18547207G>A	ENST00000338128.8	-	6	909	c.692C>T	c.(691-693)aCg>aTg	p.T231M	ISYNA1_ENST00000545187.1_Missense_Mutation_p.T81M|ISYNA1_ENST00000578963.1_Missense_Mutation_p.T103M|ISYNA1_ENST00000457269.4_Missense_Mutation_p.T177M|ISYNA1_ENST00000317018.6_Missense_Mutation_p.T29M	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	NA					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						GAAGCGCTCCGTGTTCGCCGT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	93	96			NA	NA	19		NA											NA				18547207		2203	4300	6503	SO:0001583	missense				CCDS12379.1, CCDS54234.1, CCDS62603.1	19p13.11	2014-09-04			ENSG00000105655	ENSG00000105655	51477	51477	5.5.1.4		29821	protein-coding gene	gene with protein product	myo-inositol 1-phosphate synthase	611670			NA	15024000, 12941308	Standard	NM_016368	NM_016368	NA	Approved	Ino1, INOS, IPS	uc002njd.2	Q9NPH2	OTTHUMG00000179027	ENST00000338128.8:c.692C>T	19.37:g.18547207G>A	ENSP00000337746:p.Thr231Met	NA	Q6NXT5|Q7Z525|Q9BT65|Q9H2Y2|Q9NSU0|Q9NVW7	37	CCDS12379.1	.	.	.	.	.	.	.	.	.	.	G	9.004	0.980764	0.18812	.	.	ENSG00000105655	ENST00000338128;ENST00000457269;ENST00000545187;ENST00000317018	.	.	.	3.88	2.83	0.33086	NAD(P)-binding domain (1);	0.060310	0.64402	N	0.000005	D	0.86826	0.6026	H	0.98388	4.22	0.48975	D	0.999736	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.87914	0.2699	9	0.87932	D	0	-22.5749	9.041	0.36319	0.1123:0.0:0.8877:0.0	.	29;177;231;81	B7Z3K3;G5E9U0;Q9NPH2;G3V1R9	.;.;INO1_HUMAN;.	M	231;177;81;29	.	ENSP00000315147:T29M	T	-	2	0	ISYNA1	18408207	1.000000	0.71417	0.573000	0.28510	0.227000	0.25037	5.807000	0.69157	0.970000	0.38263	0.457000	0.33378	ACG	ISYNA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444469.2		-	ENST00000338128.8	Missense_Mutation	SNP	19 : 18547207 - 18547207 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	447	100
OTUD7A	161725	broad.mit.edu	37	15	31818563	31818563	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31818563G>A	ENST00000307050.4	-	6	953	c.861C>T	c.(859-861)ggC>ggT	p.G287G	OTUD7A_ENST00000382902.1_Silent_p.G294G	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	287	Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CCCCGCCCGTGCCGCCATTCT	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	37	37			NA	NA	15		NA											NA				31818563		2202	4300	6502	SO:0001819	synonymous_variant			AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918	161725	161725		OTU domain containing	20718	protein-coding gene	gene with protein product		612024	chromosome 15 open reading frame 16, OTU domain containing 7, OTU domain containing 7A	C15orf16, OTUD7	NA	23827681	Standard	NM_130901	NM_130901	NA	Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.861C>T	15.37:g.31818563G>A		NA	Q8IWK5	37	CCDS10026.1																																																																																			OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251393.2		-	ENST00000307050.4	Silent	SNP	15 : 31818563 - 31818563 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	82	14
DNAH6	1768	broad.mit.edu	37	2	84777068	84777068	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:84777068A>C	ENST00000237449.6	+	8	1380	c.1372A>C	c.(1372-1374)Aat>Cat	p.N458H	DNAH6_ENST00000398278.2_Missense_Mutation_p.N458H|DNAH6_ENST00000389394.3_Missense_Mutation_p.N458H			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	458	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CTTAACGGTAAATGCTGTTAA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	88	91			NA	NA	2		NA											NA				84777068		2203	4300	6503	SO:0001583	missense			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423	1768	1768		Axonemal dyneins	2951	protein-coding gene	gene with protein product		603336	dynein, axonemal, heavy polypeptide 6, dynein heavy chain-like 1	DNHL1	NA	8812413	Standard	NM_001370	NM_001370	NA	Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1372A>C	2.37:g.84777068A>C	ENSP00000237449:p.Asn458His	NA	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	37	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	A	14.07	2.426379	0.43020	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.26067	1.76;1.88;1.76	6.02	6.02	0.97574	.	0.000000	0.64402	D	0.000011	T	0.49218	0.1544	M	0.69823	2.125	0.38970	D	0.958727	B;D	0.71674	0.109;0.998	B;D	0.65443	0.062;0.935	T	0.51036	-0.8756	10	0.46703	T	0.11	.	15.5246	0.75894	1.0:0.0:0.0:0.0	.	458;37	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	H	458	ENSP00000374045:N458H;ENSP00000381326:N458H;ENSP00000237449:N458H	ENSP00000237449:N458H	N	+	1	0	DNAH6	84630579	1.000000	0.71417	0.757000	0.31301	0.065000	0.16274	6.682000	0.74528	2.304000	0.77564	0.528000	0.53228	AAT	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328537.2		+	ENST00000237449.6	Missense_Mutation	SNP	2 : 84777068 - 84777068 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	306	58
ABHD8	79575	broad.mit.edu	37	19	17405187	17405187	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17405187G>A	ENST00000247706.3	-	4	1298	c.1059C>T	c.(1057-1059)gtC>gtT	p.V353V	MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	353							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						CGGCGTGGTAGACCTCGTCGC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(156;1368 2543 15275 41187)							NA				0													120	93	102			NA	NA	19		NA											NA				17405187		2203	4300	6503	SO:0001819	synonymous_variant			AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220	79575	79575		Abhydrolase domain containing	23759	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024527	NM_024527	NA	Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.1059C>T	19.37:g.17405187G>A		NA	Q9HAE9	37	CCDS12355.1																																																																																			ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462937.1		-	ENST00000247706.3	Silent	SNP	19 : 17405187 - 17405187 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	581	114
CHST5	23563	broad.mit.edu	37	16	75563625	75563625	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75563625C>T	ENST00000336257.3	-	3	2052	c.658G>A	c.(658-660)Gtg>Atg	p.V220M	CHST5_ENST00000541075.1_Missense_Mutation_p.V226M|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	220					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						ACCAGGTGCACGATGCGCAGG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	47	46			NA	NA	16		NA											NA				75563625		2197	4299	6496	SO:0001583	missense			AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702	23563	23563		Sulfotransferases, membrane-bound	1973	protein-coding gene	gene with protein product		604817			NA	10491328, 11017086	Standard	NM_012126	NM_024533	NA	Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.658G>A	16.37:g.75563625C>T	ENSP00000338783:p.Val220Met	NA	B2RV23|Q7LCN3|Q9UBY3	37	CCDS10919.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.688457	0.29962	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	T;T	0.29142	1.58;1.58	2.84	1.87	0.25490	Sulfotransferase domain (1);	0.204220	0.40222	N	0.001141	T	0.47563	0.1452	M	0.79805	2.47	0.40904	D	0.984174	D;D	0.76494	0.999;0.999	D;D	0.71656	0.956;0.974	T	0.49224	-0.8962	10	0.52906	T	0.07	.	3.652	0.08206	0.0:0.6029:0.0:0.3971	.	226;220	Q9GZS9-2;Q9GZS9	.;CHST5_HUMAN	M	220;226	ENSP00000338783:V220M;ENSP00000441220:V226M	ENSP00000338783:V220M	V	-	1	0	CHST5	74121126	1.000000	0.71417	1.000000	0.80357	0.063000	0.16089	2.279000	0.43435	1.583000	0.49898	0.313000	0.20887	GTG	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269025.2		-	ENST00000336257.3	Missense_Mutation	SNP	16 : 75563625 - 75563625 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	733	123
DNAH2	146754	broad.mit.edu	37	17	7689644	7689644	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7689644A>C	ENST00000572933.1	+	40	7792	c.6332A>C	c.(6331-6333)aAc>aCc	p.N2111T	DNAH2_ENST00000389173.2_Missense_Mutation_p.N2111T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2111	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGAGACCCTAACTTCAACATT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	37	37			NA	NA	17		NA											NA				7689644		2203	4300	6503	SO:0001583	missense			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914	146754	146754		Axonemal dyneins	2948	protein-coding gene	gene with protein product		603333	dynein, axonemal, heavy polypeptide 2, dynein heavy chain domain 3	DNHD3	NA	9256245	Standard	NM_020877	XM_005256470	NA	Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.6332A>C	17.37:g.7689644A>C	ENSP00000458355:p.Asn2111Thr	NA	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	13.50	2.255034	0.39896	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.44881	0.91	5.43	4.35	0.52113	ATPase, dynein-related, AAA domain (1);	0.283115	0.39834	N	0.001242	T	0.30355	0.0762	L	0.42632	1.34	0.80722	D	1	B	0.19583	0.037	B	0.21546	0.035	T	0.07616	-1.0763	10	0.14252	T	0.57	.	6.8105	0.23802	0.7675:0.1527:0.0798:0.0	.	2111	Q9P225	DYH2_HUMAN	T	2111	ENSP00000373825:N2111T	ENSP00000353818:N2111T	N	+	2	0	DNAH2	7630369	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.029000	0.41098	1.086000	0.41228	0.528000	0.53228	AAC	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000440241.1		+	ENST00000572933.1	Missense_Mutation	SNP	17 : 7689644 - 7689644 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	211	17
PTPN6	5777	broad.mit.edu	37	12	7064578	7064578	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7064578G>A	ENST00000318974.9	+	6	921	c.677G>A	c.(676-678)cGa>cAa	p.R226Q	PTPN6_ENST00000399448.1_Missense_Mutation_p.R228Q|PTPN6_ENST00000456013.1_Missense_Mutation_p.R226Q|PTPN6_ENST00000447931.2_Missense_Mutation_p.R187Q	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	226					apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						ATTGAGAACCGAGTGTTGGAA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	158	154			NA	NA	12		NA											NA				7064578		2065	4190	6255	SO:0001583	missense				CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679	5777	5777		Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor, SH2 domain containing	9658	protein-coding gene	gene with protein product		176883			NA	1639416	Standard	NM_002831	NM_080548	NA	Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.677G>A	12.37:g.7064578G>A	ENSP00000326010:p.Arg226Gln	NA	A8K306|Q969V8	37	CCDS44820.1	.	.	.	.	.	.	.	.	.	.	G	36	5.804738	0.96967	.	.	ENSG00000111679	ENST00000399448;ENST00000447931;ENST00000318974;ENST00000456013	T;T;T;T	0.15372	2.5;2.45;2.45;2.43	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.48572	0.1507	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;0.999	T	0.54702	-0.8254	10	0.56958	D	0.05	.	18.6319	0.91363	0.0:0.0:1.0:0.0	.	214;187;226;226;228	B4DPS0;P29350-2;G3V0F8;P29350;Q53XS4	.;.;.;PTN6_HUMAN;.	Q	228;187;226;226	ENSP00000382376:R228Q;ENSP00000415979:R187Q;ENSP00000326010:R226Q;ENSP00000391592:R226Q	ENSP00000326010:R226Q	R	+	2	0	PTPN6	6934839	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.336000	0.96533	2.465000	0.83290	0.561000	0.74099	CGA	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400023.1		+	ENST00000318974.9	Missense_Mutation	SNP	12 : 7064578 - 7064578 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	974	154
CNTNAP2	26047	broad.mit.edu	37	7	146536846	146536846	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:146536846G>A	ENST00000361727.3	+	3	768	c.252G>A	c.(250-252)tgG>tgA	p.W84*		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	84	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATTATCAATGGCTTCAGGTTG	0.463		NA								HNSCC(39;0.1)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	78	82			NA	NA	7		NA											NA				146536846		2203	4300	6503	SO:0001587	stop_gained			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469	26047	26047			13830	protein-coding gene	gene with protein product		604569			NA	10624965, 10048485	Standard		NM_014141	NA	Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.252G>A	7.37:g.146536846G>A	ENSP00000354778:p.Trp84*	NA	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	37	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	43	10.023625	0.99319	.	.	ENSG00000174469	ENST00000361727	.	.	.	5.83	5.83	0.93111	.	0.000000	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.6885	0.91574	0.0:0.0:1.0:0.0	.	.	.	.	X	84	.	ENSP00000354778:W84X	W	+	3	0	CNTNAP2	146167779	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.760000	0.94817	0.650000	0.86243	TGG	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327668.1		+	ENST00000361727.3	Nonsense_Mutation	SNP	7 : 146536846 - 146536846 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	325	57
SLC34A2	10568	broad.mit.edu	37	4	25678117	25678117	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25678117G>A	ENST00000382051.3	+	13	1869	c.1819G>A	c.(1819-1821)Gtc>Atc	p.V607I	SLC34A2_ENST00000504570.1_Missense_Mutation_p.V606I|SLC34A2_ENST00000503434.1_Missense_Mutation_p.V606I	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	607					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GGATGCCGTCGTCTCCAAGTT	0.647		NA	T	ROS1	NSCLC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		4	4p15.2	10568	solute carrier family 34 (sodium phosphate), member 2		E	0													49	49	49			NA	NA	4		NA											NA				25678117		2203	4300	6503	SO:0001583	missense			AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765	10568	10568		Solute carriers	11020	protein-coding gene	gene with protein product		604217	solute carrier family 34 (sodium phosphate), member 2		NA	10329428, 10610722	Standard	NM_006424	NM_006424	NA	Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1819G>A	4.37:g.25678117G>A	ENSP00000371483:p.Val607Ile	NA	A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	37	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.718847	0.00700	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	T;T;T	0.20881	2.04;2.04;2.04	5.48	-8.75	0.00834	.	0.547357	0.21007	N	0.081741	T	0.04092	0.0114	N	0.01535	-0.81	0.09310	N	1	B;B	0.20052	0.041;0.004	B;B	0.19391	0.025;0.004	T	0.24693	-1.0153	10	0.02654	T	1	-15.9216	10.1574	0.42831	0.2074:0.0912:0.6111:0.0903	.	606;607	O95436-2;O95436	.;NPT2B_HUMAN	I	606;607;606	ENSP00000425501:V606I;ENSP00000371483:V607I;ENSP00000423021:V606I	ENSP00000371483:V607I	V	+	1	0	SLC34A2	25287215	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.738000	0.04871	-1.512000	0.01791	-2.511000	0.00188	GTC	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214990.1		+	ENST00000382051.3	Missense_Mutation	SNP	4 : 25678117 - 25678117 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	536	101
CCDC180	100499483	broad.mit.edu	37	9	100074478	100074478	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100074478C>T	ENST00000529487.1	+	4	573	c.476C>T	c.(475-477)aCt>aTt	p.T159I	CCDC180_ENST00000395220.1_Missense_Mutation_p.T298I|CCDC180_ENST00000375202.2_Missense_Mutation_p.T159I|CCDC180_ENST00000357054.1_Missense_Mutation_p.T298I|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000411667.2_Missense_Mutation_p.T159I|RP11-23J9.4_ENST00000534123.1_RNA	NM_020893.2	NP_065944.2			coiled-coil domain containing 180	NA											NA						CTCATGGATACTATAGGTGAG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	84	84			NA	NA	9		NA											NA				100074478		2203	4300	6503	SO:0001583	missense			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816	100499483	100499483			29303	protein-coding gene	gene with protein product	Behcet's Disease Associated Gene 1		KIAA1529, chromosome 9 open reading frame 174	KIAA1529, C9orf174	NA	10819331	Standard	NM_020893	NM_020893	NA	Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000529487.1:c.476C>T	9.37:g.100074478C>T	ENSP00000434727:p.Thr159Ile	NA		37	CCDS35077.2	.	.	.	.	.	.	.	.	.	.	C	0.591	-0.832948	0.02713	.	.	ENSG00000197816	ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T;T	0.17528	3.14;2.27;3.14;2.78;3.14	4.92	-3.33	0.04958	.	0.762218	0.12312	N	0.480121	T	0.06690	0.0171	N	0.20685	0.6	0.09310	N	1	B;B;B;B	0.21606	0.058;0.017;0.017;0.017	B;B;B;B	0.16289	0.015;0.007;0.012;0.012	T	0.35624	-0.9781	10	0.20519	T	0.43	0.1475	0.932	0.01337	0.3621:0.2177:0.251:0.1692	.	159;298;159;298	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	I	298;298;159;159;182;159	ENSP00000349562:T298I;ENSP00000378646:T298I;ENSP00000364348:T159I;ENSP00000414000:T159I;ENSP00000434727:T159I	ENSP00000349562:T298I	T	+	2	0	C9orf174	99114299	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.527000	0.06200	-0.380000	0.07894	-0.140000	0.14226	ACT	CCDC180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383515.2		+	ENST00000529487.1	Missense_Mutation	SNP	9 : 100074478 - 100074478 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	422	79
RPS6KB2	6199	broad.mit.edu	37	11	67200475	67200475	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67200475C>T	ENST00000312629.5	+	8	714	c.669C>T	c.(667-669)ggC>ggT	p.G223G	RPS6KB2_ENST00000539188.1_3'UTR|AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	223	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TCCATGAGGGCGCCGTCACTC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4107		0,1,2053	40	46	44		669	-5.4	0.1	11		44	1,8403		0,1,4201	no	coding-synonymous	RPS6KB2	NM_003952.2		0,2,6254	TT,TC,CC	NA	0.0119,0.0243,0.016		223/483	67200475	2,12510	2054	4202	6256	SO:0001819	synonymous_variant			AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634	6199	6199			10437	protein-coding gene	gene with protein product		608939	ribosomal protein S6 kinase, 70kD, polypeptide 2		NA	9878560, 9804755	Standard	NM_003952	XM_005274164	NA	Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.669C>T	11.37:g.67200475C>T		NA	B2RMZ9|O94809|Q9UEC1	37	CCDS41677.1																																																																																			RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395508.1		+	ENST00000312629.5	Silent	SNP	11 : 67200475 - 67200475 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	276	38
KIDINS220	57498	broad.mit.edu	37	2	8871626	8871626	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8871626G>A	ENST00000256707.3	-	30	4721	c.4540C>T	c.(4540-4542)Ctg>Ttg	p.L1514L	KIDINS220_ENST00000473731.1_Silent_p.L1495L|KIDINS220_ENST00000427284.1_Silent_p.L1495L|KIDINS220_ENST00000418530.1_Silent_p.L1415L	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1514					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGATAGCGCAGCCCACTTCCC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	59	58			NA	NA	2		NA											NA				8871626		1901	4114	6015	SO:0001819	synonymous_variant			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313	57498	57498		Ankyrin repeat domain containing	29508	protein-coding gene	gene with protein product	ankyrin repeat-rich membrane-spanning protein	615759			NA	10998417, 10574462	Standard	NM_020738	NM_020738	NA	Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.4540C>T	2.37:g.8871626G>A		NA	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	37	CCDS42650.1																																																																																			KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323408.2		-	ENST00000256707.3	Silent	SNP	2 : 8871626 - 8871626 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	403	64
KIAA1217	56243	broad.mit.edu	37	10	24832433	24832433	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24832433C>T	ENST00000307544.6	+	13	2993				KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376451.2_Nonsense_Mutation_p.Q1095*|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000376454.3_Nonsense_Mutation_p.Q1412*|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376462.1_Intron	NM_001282769.1	NP_001269698.1	Q5T5P2	SKT_HUMAN	KIAA1217	NA					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGAAGACATACAGACGGTTAA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	79	80			NA	NA	10		NA											NA				24832433		2203	4300	6503	SO:0001627	intron_variant			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549	56243	56243			25428	protein-coding gene	gene with protein product	sickle tail				NA	10574462	Standard	NM_019590	XM_005252500	NA	Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000307544.6:c.2661+734C>T	10.37:g.24832433C>T		NA	A5LHW9|A6PVQ5|A6PVQ6|A6PVQ7|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	37		.	.	.	.	.	.	.	.	.	.	C	40	8.491585	0.98834	.	.	ENSG00000120549	ENST00000442879;ENST00000376454;ENST00000450158;ENST00000376451	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	19.7465	0.96253	0.0:1.0:0.0:0.0	.	.	.	.	X	1095;1412;1095;1095	.	ENSP00000365634:Q1095X	Q	+	1	0	KIAA1217	24872439	1.000000	0.71417	0.959000	0.39883	0.148000	0.21650	7.480000	0.81109	2.680000	0.91292	0.561000	0.74099	CAG	KIAA1217-001	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000047220.2		+	ENST00000307544.6	Intron	SNP	10 : 24832433 - 24832433 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	259	54
PLEKHA4	57664	broad.mit.edu	37	19	49362745	49362745	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49362745G>A	ENST00000263265.6	-	7	1228	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	PLEKHA4_ENST00000596713.1_5'UTR|PLEKHA4_ENST00000355496.5_Missense_Mutation_p.R225W	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	225	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CTCGCCCTCCGCATCTGGAGT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	39	41			NA	NA	19		NA											NA				49362745		2203	4300	6503	SO:0001583	missense			AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559	NA	57664		Pleckstrin homology (PH) domain containing	14339	protein-coding gene	gene with protein product		607769	pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4		NA	11001876	Standard		NM_020904	NA	Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.673C>T	19.37:g.49362745G>A	ENSP00000263265:p.Arg225Trp	NA	Q8N4M8|Q8N658	37	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.179782	0.38511	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.15834	2.99;2.39	4.7	2.52	0.30459	.	0.654908	0.13453	N	0.386789	T	0.15435	0.0372	L	0.27053	0.805	0.09310	N	1	D;D	0.71674	0.987;0.998	P;P	0.50896	0.653;0.65	T	0.10132	-1.0643	10	0.41790	T	0.15	.	5.648	0.17600	0.1:0.0:0.7059:0.1941	.	225;225	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	W	225	ENSP00000263265:R225W;ENSP00000347683:R225W	ENSP00000263265:R225W	R	-	1	2	PLEKHA4	54054557	0.004000	0.15560	0.354000	0.25760	0.004000	0.04260	0.418000	0.21230	0.691000	0.31592	0.462000	0.41574	CGG	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466216.1		-	ENST00000263265.6	Missense_Mutation	SNP	19 : 49362745 - 49362745 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	237	43
ZFP28	140612	broad.mit.edu	37	19	57061959	57061959	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57061959G>T	ENST00000301318.3	+	7	954	c.883G>T	c.(883-885)Gga>Tga	p.G295*	ZFP28_ENST00000591844.1_Nonsense_Mutation_p.G295*|AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	295	KRAB 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AGAGCTGACAGGAAGCCTGTT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(124;554 1662 19430 21141 52494)							NA				0													85	87	86			NA	NA	19		NA											NA				57061959		2203	4300	6503	SO:0001587	stop_gained				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867	140612	140612		Zinc fingers, C2H2-type, -	17801	protein-coding gene	gene with protein product			zinc finger protein 28 homolog (mouse)		NA		Standard	NM_020828	NM_020828	NA	Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.883G>T	19.37:g.57061959G>T	ENSP00000301318:p.Gly295*	NA	A0JNV6|Q9BY30|Q9P2B6	37	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715171	0.68844	.	.	ENSG00000196867	ENST00000301318	.	.	.	3.67	-5.3	0.02738	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	5.6577	0.17652	0.2736:0.2838:0.4426:0.0	.	.	.	.	X	295	.	ENSP00000301318:G295X	G	+	1	0	ZFP28	61753771	0.001000	0.12720	0.000000	0.03702	0.189000	0.23516	-0.287000	0.08388	-1.094000	0.03054	0.655000	0.94253	GGA	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458409.1		+	ENST00000301318.3	Nonsense_Mutation	SNP	19 : 57061959 - 57061959 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	373	63
NTNG2	84628	broad.mit.edu	37	9	135105980	135105980	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135105980G>A	ENST00000393229.3	+	5	1828	c.1052G>A	c.(1051-1053)gGc>gAc	p.G351D	NTNG2_ENST00000360670.3_Intron|NTNG2_ENST00000393228.4_Intron|NTNG2_ENST00000372179.3_Missense_Mutation_p.G351D	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	351					axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GGTTCCTTTGGCAGTAAGTAC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	36	36			NA	NA	9		NA											NA				135105980		2202	4298	6500	SO:0001583	missense			AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358	84628	84628		Netrins	14288	protein-coding gene	gene with protein product	Netrin-G2		netrin G1	NTNG1	NA		Standard	NM_032536	NM_032536	NA	Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.1052G>A	9.37:g.135105980G>A	ENSP00000376921:p.Gly351Asp	NA	Q5JUJ2|Q6UXY0|Q96JH0	37	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	g	18.49	3.635952	0.67130	.	.	ENSG00000196358	ENST00000393229;ENST00000372179	T;T	0.69806	0.84;-0.43	5.07	5.07	0.68467	.	.	.	.	.	T	0.63581	0.2523	M	0.66939	2.045	0.34114	D	0.663338	B	0.31125	0.309	B	0.26770	0.073	T	0.72154	-0.4376	9	0.37606	T	0.19	.	13.9321	0.64003	0.0:0.0:1.0:0.0	.	351	Q96CW9	NTNG2_HUMAN	D	351	ENSP00000376921:G351D;ENSP00000361252:G351D	ENSP00000361252:G351D	G	+	2	0	NTNG2	134095801	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	4.180000	0.58296	2.353000	0.79882	0.556000	0.70494	GGC	NTNG2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054779.1		+	ENST00000393229.3	Missense_Mutation	SNP	9 : 135105980 - 135105980 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	77	12
ALPK2	115701	broad.mit.edu	37	18	56246527	56246527	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56246527G>A	ENST00000361673.3	-	4	1694	c.1481C>T	c.(1480-1482)aCa>aTa	p.T494I		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	494							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTTCATCTCTGTCTCTCTTAC	0.488		NA									OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	154	154			NA	NA	18		NA											NA				56246527		2203	4300	6503	SO:0001583	missense			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796	115701	115701		Immunoglobulin superfamily / I-set domain containing	20565	protein-coding gene	gene with protein product	heart alpha-kinase				NA	10021370	Standard	NM_052947	NM_052947	NA	Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1481C>T	18.37:g.56246527G>A	ENSP00000354991:p.Thr494Ile	1014	Q6ZUX0|Q8NAT5|Q96L95	37	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	G	8.845	0.943255	0.18281	.	.	ENSG00000198796	ENST00000361673	T	0.42900	0.96	3.35	-4.88	0.03113	.	2.060150	0.02265	N	0.067870	T	0.29423	0.0733	L	0.39898	1.24	0.09310	N	1	B	0.31256	0.316	B	0.26202	0.067	T	0.15607	-1.0431	10	0.56958	D	0.05	-0.0428	3.7053	0.08398	0.1041:0.1574:0.5208:0.2177	.	494	Q86TB3	ALPK2_HUMAN	I	494	ENSP00000354991:T494I	ENSP00000354991:T494I	T	-	2	0	ALPK2	54397507	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.096000	0.11059	-1.184000	0.02720	-0.181000	0.13052	ACA	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256126.1		-	ENST00000361673.3	Missense_Mutation	SNP	18 : 56246527 - 56246527 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	683	138
XRRA1	143570	broad.mit.edu	37	11	74570255	74570255	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74570255G>A	ENST00000340360.6	-	12	1425	c.1094C>T	c.(1093-1095)aCg>aTg	p.T365M	XRRA1_ENST00000321448.8_Intron|XRRA1_ENST00000527087.1_Intron	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	365					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						TGGGGCCAGCGTCTGGTTCCT	0.498		NA											G	1	5e-04	0.002	NA	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.8642	EXOME	NA	NA	2e-04	SNP								NA				0													64	66	65			NA	NA	11		NA											NA				74570255		1902	4115	6017	SO:0001583	missense			AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435	143570	143570			18868	protein-coding gene	gene with protein product		609788			NA	12908878, 17295261	Standard	NM_182969	NM_182969	NA	Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.1094C>T	11.37:g.74570255G>A	ENSP00000339918:p.Thr365Met	NA	B5MD90|Q7RTT7|Q7Z463|Q7Z4U0	37	CCDS44680.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	23.0	4.362635	0.82353	.	.	ENSG00000166435	ENST00000340360;ENST00000344880	T	0.53423	0.62	6.07	4.06	0.47325	.	.	.	.	.	T	0.55210	0.1906	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	P	0.59221	0.854	T	0.55315	-0.8160	9	0.48119	T	0.1	-10.3559	9.074	0.36511	0.0:0.161:0.6719:0.167	.	365	Q6P2D8	XRRA1_HUMAN	M	365;351	ENSP00000339918:T365M	ENSP00000339918:T365M	T	-	2	0	XRRA1	74247903	0.997000	0.39634	0.995000	0.50966	0.996000	0.88848	1.994000	0.40757	1.529000	0.49120	0.655000	0.94253	ACG	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384715.1		-	ENST00000340360.6	Missense_Mutation	SNP	11 : 74570255 - 74570255 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	87	22
BRPF3	27154	broad.mit.edu	37	6	36172526	36172526	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36172526C>T	ENST00000357641.6	+	3	1793	c.1540C>T	c.(1540-1542)Cgg>Tgg	p.R514W	BRPF3_ENST00000543502.1_Missense_Mutation_p.R514W|BRPF3_ENST00000534694.1_Missense_Mutation_p.R514W|BRPF3_ENST00000534400.1_Missense_Mutation_p.R514W|BRPF3_ENST00000339717.7_Missense_Mutation_p.R514W|BRPF3_ENST00000443324.2_Missense_Mutation_p.R514W	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	514					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GCGGCAGGCACGGAATGGTGT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	111	113			NA	NA	6		NA											NA				36172526		2203	4300	6503	SO:0001583	missense			AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070	27154	27154			14256	protein-coding gene	gene with protein product					NA	10574462	Standard	NM_015695	NM_015695	NA	Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.1540C>T	6.37:g.36172526C>T	ENSP00000350267:p.Arg514Trp	NA	A6NJE2|Q5R3K8	37	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757713	0.49468	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000543502;ENST00000443324;ENST00000534400;ENST00000527657	T;T;T;T;T;T	0.28255	1.88;1.99;1.98;1.99;1.98;1.62	5.43	2.2	0.27929	.	0.000000	0.85682	D	0.000000	T	0.44623	0.1302	M	0.78223	2.4	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.53865	-0.8378	10	0.87932	D	0	.	13.1546	0.59509	0.7058:0.2942:0.0:0.0	.	514;514;514	B7ZLN5;Q17RB6;Q9ULD4	.;.;BRPF3_HUMAN	W	514;514;514;514;514;514;60	ENSP00000350267:R514W;ENSP00000345419:R514W;ENSP00000434501:R514W;ENSP00000445352:R514W;ENSP00000387368:R514W;ENSP00000436504:R514W	ENSP00000345419:R514W	R	+	1	2	BRPF3	36280504	0.854000	0.29725	0.992000	0.48379	0.996000	0.88848	1.755000	0.38379	0.588000	0.29660	0.557000	0.71058	CGG	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040335.3		+	ENST00000357641.6	Missense_Mutation	SNP	6 : 36172526 - 36172526 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	761	117
CTNNAL1	8727	broad.mit.edu	37	9	111761490	111761490	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111761490T>G	ENST00000374595.4	-	2	267	c.188A>C	c.(187-189)aAa>aCa	p.K63T	CTNNAL1_ENST00000374593.4_Missense_Mutation_p.K63T|CTNNAL1_ENST00000325551.4_Missense_Mutation_p.K63T|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.K63T			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	63					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		TTGCAGAGTTTTATCAGACTT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	153	151			NA	NA	9		NA											NA				111761490		2203	4300	6503	SO:0001583	missense			AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326	8727	8727			2512	protein-coding gene	gene with protein product	alpha-catulin, alpha2-catulin	604785			NA	9806841	Standard	NM_003798	XM_005252291	NA	Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000374595.4:c.188A>C	9.37:g.111761490T>G	ENSP00000363723:p.Lys63Thr	NA	B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	37		.	.	.	.	.	.	.	.	.	.	T	19.55	3.848949	0.71603	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580;ENST00000374593	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	5.93	5.93	0.95920	.	0.106328	0.64402	D	0.000006	T	0.61324	0.2338	M	0.72894	2.215	0.49798	D	0.999823	D;P;D	0.69078	0.997;0.941;0.997	D;P;D	0.65874	0.939;0.818;0.939	T	0.60757	-0.7200	10	0.38643	T	0.18	-23.9731	14.336	0.66589	0.0:0.0:0.0:1.0	.	63;63;63	B2RBI4;Q9UBT7-2;Q9UBT7	.;.;CTNL1_HUMAN	T	63	ENSP00000363723:K63T;ENSP00000320434:K63T;ENSP00000323351:K63T;ENSP00000363721:K63T	ENSP00000320434:K63T	K	-	2	0	CTNNAL1	110801311	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.818000	0.62657	2.258000	0.74832	0.533000	0.62120	AAA	CTNNAL1-002	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000053578.1		-	ENST00000374595.4	Missense_Mutation	SNP	9 : 111761490 - 111761490 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	893	149
CYP1A1	1543	broad.mit.edu	37	15	75014721	75014721	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75014721G>T	ENST00000395049.4	-	2	800	c.718C>A	c.(718-720)Ctt>Att	p.L240I	CYP1A1_ENST00000395048.2_Missense_Mutation_p.L240I|CYP1A1_ENST00000379727.3_Missense_Mutation_p.L240I|CYP1A1_ENST00000567032.1_Missense_Mutation_p.L240I|CYP1A1_ENST00000564596.1_5'UTR			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	240					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	AGGTAGCGAAGAATAGGGATG	0.473		NA							Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	93	94			NA	NA	15		NA											NA				75014721		2197	4296	6493	SO:0001583	missense	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1543	1543	1.14.14.1	Cytochrome P450s	2595	protein-coding gene	gene with protein product		108330	cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1	CYP1	NA	15128046	Standard	NM_000499	NM_000499	NA	Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000395049.4:c.718C>A	15.37:g.75014721G>T	ENSP00000378489:p.Leu240Ile	NA	Q53G18	37		.	.	.	.	.	.	.	.	.	.	G	19.94	3.919052	0.73098	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049	T;T;T	0.71579	-0.58;-0.58;-0.58	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.85327	0.5671	M	0.84326	2.69	0.80722	D	1	D;D	0.69078	0.997;0.968	D;D	0.74348	0.983;0.936	D	0.87143	0.2204	10	0.56958	D	0.05	.	18.384	0.90461	0.0:0.0:1.0:0.0	.	240;240	E7EMT5;P04798	.;CP1A1_HUMAN	I	240	ENSP00000369050:L240I;ENSP00000378488:L240I;ENSP00000378489:L240I	ENSP00000369050:L240I	L	-	1	0	CYP1A1	72801774	1.000000	0.71417	0.725000	0.30721	0.863000	0.49368	6.597000	0.74118	2.322000	0.78497	0.555000	0.69702	CTT	CYP1A1-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000421250.1		-	ENST00000395049.4	Missense_Mutation	SNP	15 : 75014721 - 75014721 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	353	56
SYNGR3	9143	broad.mit.edu	37	16	2042719	2042719	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2042719G>A	ENST00000562045.1	+	2	1171	c.155G>A	c.(154-156)cGc>cAc	p.R52H	SYNGR3_ENST00000248121.2_Silent_p.T140T			O43761	SNG3_HUMAN	synaptogyrin 3	0	MARVEL.				positive regulation of transporter activity	cell junction|integral to plasma membrane|synaptic vesicle				endometrium(1)|lung(2)	3						CGGCCACGACGCAGGCGGGGG	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	15	15			NA	NA	16		NA											NA				2042719		2175	4262	6437	SO:0001583	missense			AJ002309	CCDS10456.1	16p13.3	2008-05-19			ENSG00000127561	ENSG00000127561	9143	9143			11501	protein-coding gene	gene with protein product		603927			NA	9760194	Standard		NM_004209	NA	Approved		uc002cod.3	O43761	OTTHUMG00000128711	ENST00000562045.1:c.155G>A	16.37:g.2042719G>A	ENSP00000455577:p.Arg52His	NA	B2R9S0	37																																																																																				SYNGR3-005	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000434308.1		+	ENST00000562045.1	Missense_Mutation	SNP	16 : 2042719 - 2042719 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	144	28
BRD1	23774	broad.mit.edu	37	22	50187865	50187865	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50187865C>T	ENST00000216267.8	-	6	2662	c.2176G>A	c.(2176-2178)Gac>Aac	p.D726N	BRD1_ENST00000404034.1_Missense_Mutation_p.D726N|BRD1_ENST00000404760.1_Missense_Mutation_p.D726N|BRD1_ENST00000457780.2_Missense_Mutation_p.D726N|BRD1_ENST00000342989.5_Missense_Mutation_p.D321N|BRD1_ENST00000542442.1_Missense_Mutation_p.D414N	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	726					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CAGGTGAGGTCGAGCATGTCC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	67	66			NA	NA	22		NA											NA				50187865		2203	4300	6503	SO:0001583	missense			AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425	23774	23774			1102	protein-coding gene	gene with protein product	BR140-like	604589	bromodomain-containing 1		NA	10591208, 10602503	Standard	NM_014577	NM_014577	NA	Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.2176G>A	22.37:g.50187865C>T	ENSP00000216267:p.Asp726Asn	NA	A6ZJA4	37	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792126	0.90453	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T;T	0.30981	2.38;2.38;2.18;1.95;1.51;1.6	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.62208	0.2409	M	0.86178	2.8	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.988;0.999	T	0.65578	-0.6134	10	0.49607	T	0.09	.	19.1727	0.93585	0.0:1.0:0.0:0.0	.	726;321;726;726	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	N	726;726;726;726;414;321;186	ENSP00000216267:D726N;ENSP00000384076:D726N;ENSP00000385858:D726N;ENSP00000410042:D726N;ENSP00000437514:D414N;ENSP00000345886:D321N	ENSP00000216267:D726N	D	-	1	0	BRD1	48573869	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.591000	0.82666	2.524000	0.85096	0.655000	0.94253	GAC	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317402.1		-	ENST00000216267.8	Missense_Mutation	SNP	22 : 50187865 - 50187865 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	455	79
SCYL2	55681	broad.mit.edu	37	12	100723037	100723037	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100723037C>T	ENST00000360820.2	+	13	2138	c.1701C>T	c.(1699-1701)gcC>gcT	p.A567A		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	567					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						AGCAGCTGGCCGGAAAAGTGT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	84	82			NA	NA	12		NA											NA				100723037		2203	4299	6502	SO:0001819	synonymous_variant			AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021	55681	55681			19286	protein-coding gene	gene with protein product					NA	10718198	Standard	NM_017988	NM_017988	NA	Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.1701C>T	12.37:g.100723037C>T		NA	A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	37	CCDS9076.1																																																																																			SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408493.2		+	ENST00000360820.2	Silent	SNP	12 : 100723037 - 100723037 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	397	71
CD22	933	broad.mit.edu	37	19	35836007	35836007	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35836007G>T	ENST00000085219.5	+	11	2252	c.2186G>T	c.(2185-2187)aGc>aTc	p.S729I	CD22_ENST00000536635.2_Missense_Mutation_p.S641I|CD22_ENST00000419549.2_Missense_Mutation_p.S557I|CD22_ENST00000594250.1_Missense_Mutation_p.S552I|CD22_ENST00000270311.6_Intron|CD22_ENST00000544992.2_Missense_Mutation_p.S729I|CD22_ENST00000341773.6_Missense_Mutation_p.S552I	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	729					cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	AGCGGCCAGAGCTTCTTTGTG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(42;1009 1133 23674 26041)							NA				0													65	70	68			NA	NA	19		NA											NA				35836007		2203	4300	6503	SO:0001583	missense			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124	933	933		CD molecules, Sialic acid binding Ig-like lectins, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	1643	protein-coding gene	gene with protein product	sialic acid binding Ig-like lectin 2	107266	CD22 antigen		NA	8496602, 1691828	Standard	NM_001771	NM_001185099	NA	Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.2186G>T	19.37:g.35836007G>T	ENSP00000085219:p.Ser729Ile	NA	O95699|O95701|O95702|O95703|Q01665|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	37	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304738	0.60305	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000544992;ENST00000419549	T;T;T;T;T	0.56444	0.95;0.54;0.46;0.94;1.01	5.32	3.03	0.35002	.	0.239865	0.30085	N	0.010457	T	0.64864	0.2637	M	0.75447	2.3	0.30270	N	0.792324	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.963;0.999;0.992;0.992;0.999	T	0.60398	-0.7271	10	0.20519	T	0.43	.	6.9595	0.24590	0.0941:0.174:0.7319:0.0	.	557;729;641;729;552	Q32M46;F5GYU4;F5H7U3;P20273;P20273-2	.;.;.;CD22_HUMAN;.	I	729;641;552;729;557	ENSP00000085219:S729I;ENSP00000442279:S641I;ENSP00000339349:S552I;ENSP00000441237:S729I;ENSP00000403822:S557I	ENSP00000085219:S729I	S	+	2	0	CD22	40527847	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	2.117000	0.41939	1.245000	0.43885	0.563000	0.77884	AGC	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466099.1		+	ENST00000085219.5	Missense_Mutation	SNP	19 : 35836007 - 35836007 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	488	78
ANO3	63982	broad.mit.edu	37	11	26619977	26619977	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26619977G>A	ENST00000256737.3	+	15	2365	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	ANO3_ENST00000531568.1_Missense_Mutation_p.E359K|ANO3_ENST00000525139.1_Missense_Mutation_p.E489K|ANO3_ENST00000537978.1_Missense_Mutation_p.E489K	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	505						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GGACCTTATCGAATGGGAAGA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	119	119			NA	NA	11		NA											NA				26619977		2203	4299	6502	SO:0001583	missense			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343	63982	63982		Ion channels / Chloride channels : Calcium activated : Anoctamins	14004	protein-coding gene	gene with protein product	transmembrane protein 16C (eight membrane-spanning domains)	610110	chromosome 11 open reading frame 25, transmembrane protein 16C	C11orf25, TMEM16C	NA	12739008, 15067359, 23200863, 24692353	Standard	NM_031418	NM_031418	NA	Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1513G>A	11.37:g.26619977G>A	ENSP00000256737:p.Glu505Lys	NA		37	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035474	0.75617	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.64	5.64	0.86602	.	0.046152	0.85682	D	0.000000	T	0.47469	0.1447	N	0.08118	0	0.53005	D	0.999965	B;B	0.20671	0.028;0.047	B;B	0.19391	0.01;0.025	T	0.44065	-0.9352	10	0.59425	D	0.04	.	19.703	0.96063	0.0:0.0:1.0:0.0	.	407;505	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	K	489;489;505;407;359	ENSP00000440737:E489K;ENSP00000432576:E489K;ENSP00000256737:E505K;ENSP00000432394:E359K	ENSP00000256737:E505K	E	+	1	0	ANO3	26576553	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	9.033000	0.93741	2.660000	0.90430	0.655000	0.94253	GAA	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387806.1		+	ENST00000256737.3	Missense_Mutation	SNP	11 : 26619977 - 26619977 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	556	100
SUCO	51430	broad.mit.edu	37	1	172579371	172579371	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:172579371G>A	ENST00000367723.4	+	23	4314	c.4190G>A	c.(4189-4191)gGt>gAt	p.G1397D	SUCO_ENST00000610051.1_Missense_Mutation_p.G875D|SUCO_ENST00000263688.3_Missense_Mutation_p.G1246D|SUCO_ENST00000608151.1_Missense_Mutation_p.G1398D	NM_016227.2	NP_057311.3			SUN domain containing ossification factor	NA											NA						GGAACATTTGGTGTTACAGCA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	66	65			NA	NA	1		NA											NA				172579371		2203	4300	6503	SO:0001583	missense			AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975	51430	51430			1240	protein-coding gene	gene with protein product	SUN-like protein 1, osteopotentia		chromosome 1 open reading frame 9	C1orf9	NA	10673381, 20440000	Standard	NM_016227	NM_001282750	NA	Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000367723.4:c.4190G>A	1.37:g.172579371G>A	ENSP00000356696:p.Gly1397Asp	NA		37		.	.	.	.	.	.	.	.	.	.	G	17.37	3.371797	0.61624	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.26	5.26	0.73747	.	0.099482	0.64402	D	0.000002	T	0.73659	0.3615	M	0.71581	2.175	0.58432	D	0.999995	D;D;D	0.71674	0.996;0.998;0.998	D;D;P	0.65443	0.935;0.922;0.896	T	0.76645	-0.2883	9	0.87932	D	0	-15.5508	17.7888	0.88546	0.0:0.0:1.0:0.0	.	875;1398;1246	B4DYM4;Q5H945;Q9UBS9	.;.;OSPT_HUMAN	D	1398;1246	.	ENSP00000263688:G1246D	G	+	2	0	C1orf9	170845994	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.279000	0.72620	2.617000	0.88574	0.650000	0.86243	GGT	SUCO-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000084274.2		+	ENST00000367723.4	Missense_Mutation	SNP	1 : 172579371 - 172579371 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	75
PCDHA9	9752	broad.mit.edu	37	5	140229419	140229419	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140229419G>A	ENST00000532602.1	+	1	2372	c.1339G>A	c.(1339-1341)Gac>Aac	p.D447N	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.D447N|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_031857.1	NP_114063.1			protocadherin alpha 9	NA										breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGGTGGCCGACGTGAACGA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(55;1800 1972 14909)							NA				0													88	83	85			NA	NA	5		NA											NA				140229419		2196	4271	6467	SO:0001583	missense			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961	9752	9752		Cadherins / Protocadherins : Clustered	8675	other	complex locus constituent	KIAA0345-like 5	606315			NA	10380929	Standard	NM_031857	NM_031857	NA	Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1339G>A	5.37:g.140229419G>A	ENSP00000436042:p.Asp447Asn	NA		37	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557030	0.86231	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	D;D	0.84298	-1.83;-1.83	3.56	3.56	0.40772	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.33180	U	0.005193	D	0.94614	0.8264	H	0.96048	3.76	0.43107	D	0.994801	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.96709	0.9524	10	0.87932	D	0	.	15.7535	0.78005	0.0:0.0:1.0:0.0	.	447;447	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	N	447	ENSP00000436042:D447N;ENSP00000367362:D447N	ENSP00000367362:D447N	D	+	1	0	PCDHA9	140209603	1.000000	0.71417	0.999000	0.59377	0.637000	0.38172	8.897000	0.92532	1.973000	0.57446	0.306000	0.20318	GAC	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372896.2		+	ENST00000532602.1	Missense_Mutation	SNP	5 : 140229419 - 140229419 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	901	95
RPE	6120	broad.mit.edu	37	2	210882204	210882204	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:210882204G>T	ENST00000429907.1	+	5	505	c.281G>T	c.(280-282)tGg>tTg	p.W94L	RPE_ENST00000445268.1_Missense_Mutation_p.W94L|RPE_ENST00000454822.1_Missense_Mutation_p.W112L|RPE_ENST00000438204.2_Missense_Mutation_p.W94L|RPE_ENST00000429921.1_Missense_Mutation_p.W112L|RPE_ENST00000452025.1_Missense_Mutation_p.W162L|RPE_ENST00000540255.1_Intron|RPE_ENST00000435437.2_Missense_Mutation_p.W162L|RPE_ENST00000436630.2_Missense_Mutation_p.W112L|RPE_ENST00000411934.2_Missense_Mutation_p.W94L|RPE_ENST00000354506.6_Missense_Mutation_p.W154L|RPE_ENST00000359429.6_Missense_Mutation_p.W162L			Q96AT9	RPE_HUMAN	ribulose-5-phosphate-3-epimerase	162					pentose-phosphate shunt	cytosol	metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	9				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		TAGGTTCACTGGTTGAGGACC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	115	118			NA	NA	2		NA											NA				210882204		2203	4300	6503	SO:0001583	missense				CCDS2388.1, CCDS42810.1, CCDS63107.1, CCDS63108.1	2q32-q33.3	2012-10-02			ENSG00000197713	ENSG00000197713	6120	6120	5.1.3.1		10293	protein-coding gene	gene with protein product		180480			NA		Standard	NM_006916	NM_199229	NA	Approved		uc002vdn.4	Q96AT9	OTTHUMG00000154690	ENST00000429907.1:c.281G>T	2.37:g.210882204G>T	ENSP00000392279:p.Trp94Leu	NA	A8K4S0|O43767|Q8N215|Q96N34|Q9BSB5	37		.	.	.	.	.	.	.	.	.	.	G	12.67	2.007901	0.35415	.	.	ENSG00000197713	ENST00000359429;ENST00000436630;ENST00000408981;ENST00000454822;ENST00000429921;ENST00000438265;ENST00000429907;ENST00000441588;ENST00000445268;ENST00000452025;ENST00000438204;ENST00000411934;ENST00000435437;ENST00000354506	.	.	.	5.34	5.34	0.76211	Aldolase-type TIM barrel (1);Ribulose-phosphate binding barrel (1);	0.000000	0.85682	D	0.000000	T	0.59797	0.2220	N	0.24115	0.695	0.80722	D	1	D;B;B;B	0.60160	0.987;0.002;0.001;0.001	P;B;B;B	0.61275	0.886;0.01;0.006;0.003	T	0.51434	-0.8706	9	0.11182	T	0.66	.	19.0147	0.92889	0.0:0.0:1.0:0.0	.	132;154;162;162	B3KTW7;E7EW52;Q96AT9;C9J9T0	.;.;RPE_HUMAN;.	L	162;112;94;112;112;112;94;94;94;162;94;94;162;154	.	ENSP00000346501:W154L	W	+	2	0	RPE	210590449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.438000	0.97539	2.654000	0.90174	0.655000	0.94253	TGG	RPE-011	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000336592.2		+	ENST00000429907.1	Missense_Mutation	SNP	2 : 210882204 - 210882204 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	403	79
GALNT10	55568	broad.mit.edu	37	5	153709140	153709140	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:153709140G>A	ENST00000297107.6	+	4	547	c.410G>A	c.(409-411)aGc>aAc	p.S137N	GALNT10_ENST00000425427.2_Missense_Mutation_p.S137N|GALNT10_ENST00000377661.2_Missense_Mutation_p.S137N|SAP30L-AS1_ENST00000519727.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	137						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			AGCTGCAACAGCAAGCGCTAC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	114	126			NA	NA	5		NA											NA				153709140		2203	4300	6503	SO:0001583	missense			AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	55568	55568	2.4.1.41	Glycosyltransferase family 2 domain containing	19873	protein-coding gene	gene with protein product	polypeptide GalNAc transferase 10	608043	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)		NA	12417297	Standard	NM_198321	NM_198321	NA	Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.410G>A	5.37:g.153709140G>A	ENSP00000297107:p.Ser137Asn	NA	B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	37	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	G	9.611	1.131167	0.21041	.	.	ENSG00000164574	ENST00000425427;ENST00000297107;ENST00000377661	T;T;T	0.59224	0.28;0.28;0.28	5.28	0.487	0.16842	.	0.370552	0.30840	N	0.008778	T	0.32010	0.0815	N	0.11892	0.195	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.001	T	0.06338	-1.0832	10	0.14656	T	0.56	.	9.373	0.38266	0.5571:0.0:0.4429:0.0	.	137;137;137	Q86SR1-2;Q86SR1;Q86SR1-3	.;GLT10_HUMAN;.	N	137	ENSP00000415210:S137N;ENSP00000297107:S137N;ENSP00000366889:S137N	ENSP00000297107:S137N	S	+	2	0	GALNT10	153689333	0.987000	0.35691	0.989000	0.46669	0.997000	0.91878	1.249000	0.32839	0.003000	0.14656	0.655000	0.94253	AGC	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252453.1		+	ENST00000297107.6	Missense_Mutation	SNP	5 : 153709140 - 153709140 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	455	88
TSHZ1	10194	broad.mit.edu	37	18	72999799	72999799	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72999799A>G	ENST00000322038.5	+	2	2886	c.2302A>G	c.(2302-2304)Acc>Gcc	p.T768A	TSHZ1_ENST00000580243.1_Missense_Mutation_p.T813A	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	813						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CATTGACTTAACCAAGTCCAA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	55	55			NA	NA	18		NA											NA				72999799		2203	4300	6503	SO:0001583	missense			AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981	10194	10194		Teashirt zinc fingers, Homeoboxes / ZF class, Zinc fingers, C2H2-type	10669	protein-coding gene	gene with protein product		614427	serologically defined colon cancer antigen 33, teashirt zinc finger 1, teashirt family zinc finger 1	SDCCAG33	NA	17586487	Standard	NM_005786	NM_005786	NA	Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000322038.5:c.2302A>G	18.37:g.72999799A>G	ENSP00000323584:p.Thr768Ala	NA	O60534|Q4LE29|Q53EU4	37	CCDS12009.1	.	.	.	.	.	.	.	.	.	.	A	11.40	1.626961	0.28978	.	.	ENSG00000179981	ENST00000322038	T	0.53423	0.62	5.26	5.26	0.73747	.	0.052129	0.85682	D	0.000000	T	0.52092	0.1713	M	0.80422	2.495	0.46222	D	0.99893	P	0.43287	0.802	B	0.38616	0.277	T	0.63189	-0.6693	10	0.87932	D	0	-49.2603	15.1778	0.72927	1.0:0.0:0.0:0.0	.	813	Q6ZSZ6	TSH1_HUMAN	A	768	ENSP00000323584:T768A	ENSP00000323584:T768A	T	+	1	0	TSHZ1	71128787	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	8.817000	0.91985	2.466000	0.83321	0.561000	0.74099	ACC	TSHZ1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256333.2		+	ENST00000322038.5	Missense_Mutation	SNP	18 : 72999799 - 72999799 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	71
BRICD5	283870	broad.mit.edu	37	16	2259423	2259423	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2259423G>A	ENST00000328540.3	-	6	1743	c.627C>T	c.(625-627)atC>atT	p.I209I	BRICD5_ENST00000562360.1_Silent_p.I241I	NM_182563.3	NP_872369.2			BRICHOS domain containing 5	NA											NA						AGCAGATGTCGATGCAGAGAT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	62	62			NA	NA	16		NA											NA				2259423		2198	4300	6498	SO:0001819	synonymous_variant			BC039154	CCDS10463.1	16p13.3	2012-10-10	2012-10-10	2012-10-10	ENSG00000182685	ENSG00000182685	283870	283870		BRICHOS domain containing	28309	protein-coding gene	gene with protein product			chromosome 16 open reading frame 79	C16orf79	NA	12477932	Standard	NM_182563	NM_182563	NA	Approved	MGC21830	uc002cpi.2	Q6PL45	OTTHUMG00000128831	ENST00000328540.3:c.627C>T	16.37:g.2259423G>A		NA		37	CCDS10463.1																																																																																			BRICD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250769.2		-	ENST00000328540.3	Silent	SNP	16 : 2259423 - 2259423 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	490	54
FUT2	2524	broad.mit.edu	37	19	49206490	49206490	+	Missense_Mutation	SNP	G	G	A	rs112722916		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49206490G>A	ENST00000425340.2	+	2	394	c.277G>A	c.(277-279)Gcc>Acc	p.A93T	FUT2_ENST00000391876.4_Missense_Mutation_p.A93T	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	93					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		CGGGCGGCCCGCCTTCATCCC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	28	28			NA	NA	19		NA											NA				49206490		2202	4299	6501	SO:0001583	missense				CCDS33069.1	19q13.33	2014-07-19			ENSG00000176920	ENSG00000176920	2524	2524		Fucosyltransferases	4013	protein-coding gene	gene with protein product	alpha (1,2) fucosyltransferase, galactoside 2-alpha-L-fucosyltransferase 2, GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2, alpha(1,2)FT2, secretor factor, secretor blood group alpha-2-fucosyltransferase	182100		SE	NA	1763885	Standard	NM_000511	NM_000511	NA	Approved	sej, Se2, SEC2	uc010emc.3	Q10981	OTTHUMG00000164427	ENST00000425340.2:c.277G>A	19.37:g.49206490G>A	ENSP00000387498:p.Ala93Thr	NA	Q0VAG5|Q14338|Q5D0G2	37	CCDS33069.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.956907	0.53293	.	.	ENSG00000176920	ENST00000522966;ENST00000425340;ENST00000391876	D;D;D	0.96856	-4.15;-4.15;-4.15	4.19	4.19	0.49359	.	.	.	.	.	D	0.97961	0.9329	M	0.84326	2.69	0.35320	D	0.784649	D	0.89917	1.0	D	0.97110	1.0	D	0.99970	1.1963	9	0.66056	D	0.02	.	14.4048	0.67075	0.0:0.0:1.0:0.0	.	93	Q10981	FUT2_HUMAN	T	93	ENSP00000430227:A93T;ENSP00000387498:A93T;ENSP00000375748:A93T	ENSP00000375748:A93T	A	+	1	0	FUT2	53898302	1.000000	0.71417	0.894000	0.35097	0.049000	0.14656	4.284000	0.58983	2.037000	0.60232	0.549000	0.68633	GCC	FUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378731.2		+	ENST00000425340.2	Missense_Mutation	SNP	19 : 49206490 - 49206490 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	281	42
CDH18	1016	broad.mit.edu	37	5	19544089	19544089	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:19544089C>T	ENST00000506372.1	-	9	1790	c.1279G>A	c.(1279-1281)Gac>Aac	p.D427N	CDH18_ENST00000511273.1_Missense_Mutation_p.D427N|CDH18_ENST00000274170.4_Missense_Mutation_p.D427N|CDH18_ENST00000502796.1_Missense_Mutation_p.D427N|CDH18_ENST00000507958.1_Missense_Mutation_p.D427N|CDH18_ENST00000382275.1_Missense_Mutation_p.D427N			Q13634	CAD18_HUMAN	cadherin 18, type 2	427	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AATCTGTCGTCTTCAACATTG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	95	97			NA	NA	5		NA											NA				19544089		2203	4300	6503	SO:0001583	missense			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526	1016	1016		Cadherins / Major cadherins	1757	protein-coding gene	gene with protein product		603019			NA	9030594, 10191097	Standard	NM_004934	NM_004934	NA	Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000506372.1:c.1279G>A	5.37:g.19544089C>T	ENSP00000424931:p.Asp427Asn	NA	A8K0I2|Q8N5Z2	37		.	.	.	.	.	.	.	.	.	.	C	11.60	1.687736	0.29962	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;2.09;-0.05	5.44	4.57	0.56435	Cadherin (4);Cadherin-like (1);	0.455464	0.24516	N	0.037858	T	0.46288	0.1385	N	0.13043	0.29	0.32552	N	0.53228	B;B	0.24317	0.101;0.076	B;B	0.32022	0.139;0.088	T	0.52472	-0.8571	9	.	.	.	.	12.7735	0.57434	0.0:0.9203:0.0:0.0797	.	427;427	B4DHG6;Q13634	.;CAD18_HUMAN	N	427;427;427;427;427;427;373;427	ENSP00000371710:D427N;ENSP00000425093:D427N;ENSP00000274170:D427N;ENSP00000424931:D427N;ENSP00000422138:D427N;ENSP00000427383:D373N;ENSP00000425854:D427N	.	D	-	1	0	CDH18	19579846	1.000000	0.71417	0.929000	0.37066	0.596000	0.36781	4.798000	0.62510	1.312000	0.45043	0.591000	0.81541	GAC	CDH18-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000366746.1		-	ENST00000506372.1	Missense_Mutation	SNP	5 : 19544089 - 19544089 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	222	48
RARS2	57038	broad.mit.edu	37	6	88240658	88240658	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88240658A>C	ENST00000369536.5	-	9	660	c.615T>G	c.(613-615)gtT>gtG	p.V205V		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	205					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		CTTGTACATAAACCTAAAAGT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	108	109			NA	NA	6		NA											NA				88240658		2203	4300	6503	SO:0001819	synonymous_variant			AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	57038	57038	6.1.1.19	Aminoacyl tRNA synthetases / Class I	21406	protein-coding gene	gene with protein product	arginine tRNA ligase 2, mitochondrial (putative)	611524	arginyl-tRNA synthetase-like	RARSL	NA	17847012	Standard	NM_020320	NM_020320	NA	Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.615T>G	6.37:g.88240658A>C		NA	B2RDT7|Q96FU5|Q9H8K8	37	CCDS5011.1																																																																																			RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041448.1		-	ENST00000369536.5	Silent	SNP	6 : 88240658 - 88240658 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	273	54
BCL9L	283149	broad.mit.edu	37	11	118769762	118769762	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118769762G>A	ENST00000526143.1	-	0	4206				BCL9L_ENST00000334801.3_Missense_Mutation_p.R1288C			Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	NA					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TCGCCCATGCGCCCAGCCATG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	22	22			NA	NA	11		NA											NA				118769762		2200	4293	6493	SO:0001623	5_prime_UTR_variant			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174	283149	283149			23688	protein-coding gene	gene with protein product		609004			NA	12964048	Standard	NM_182557	NM_182557	NA	Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000526143.1:c.-1308C>T	11.37:g.118769762G>A		NA	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	37		.	.	.	.	.	.	.	.	.	.	G	14.54	2.566358	0.45694	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000525300;ENST00000392849;ENST00000431085	T	0.64803	-0.12	3.08	3.08	0.35506	.	0.179734	0.26159	N	0.025993	T	0.48840	0.1522	N	0.08118	0	0.58432	D	0.999997	D;B	0.65815	0.995;0.291	P;B	0.50754	0.649;0.022	T	0.55554	-0.8123	10	0.48119	T	0.1	-8.6842	12.4142	0.55483	0.0:0.0:1.0:0.0	.	1283;1288	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	C	1288;1251;534;1288;1243	ENSP00000335320:R1288C	ENSP00000335320:R1288C	R	-	1	0	BCL9L	118274972	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	3.182000	0.50910	2.016000	0.59253	0.305000	0.20034	CGC	BCL9L-002	KNOWN	not_organism_supported|basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000389654.2		-	ENST00000526143.1	5'UTR	SNP	11 : 118769762 - 118769762 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	98	26
APC	324	broad.mit.edu	37	5	112128185	112128185	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112128185C>T	ENST00000457016.1	+	7	1068	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C	APC_ENST00000257430.4_Missense_Mutation_p.R230C|APC_ENST00000508376.2_Missense_Mutation_p.R230C			P25054	APC_HUMAN	adenomatous polyposis coli	230	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GGACATACTTCGTATACGACA	0.308		12	D, Mis, N, F, S		colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS	colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		E, M, O	0													80	76	78			NA	NA	5		NA											NA				112128185		2202	4300	6502	SO:0001583	missense	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982	324	324		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Armadillo repeat containing	583	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 46	611731	adenomatosis polyposis coli		NA	1651563	Standard	NM_000038	NM_001127511	NA	Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.688C>T	5.37:g.112128185C>T	ENSP00000413133:p.Arg230Cys	NA	D3DT03|Q15162|Q15163|Q93042	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943797	0.73672	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72	5.19	4.31	0.51392	.	0.107791	0.64402	D	0.000016	D	0.94023	0.8085	M	0.63428	1.95	0.58432	D	0.999998	D	0.89917	1.0	D	0.70716	0.97	D	0.94601	0.7796	10	0.87932	D	0	-13.2275	15.4696	0.75432	0.1399:0.8601:0.0:0.0	.	230	P25054	APC_HUMAN	C	230	ENSP00000413133:R230C;ENSP00000257430:R230C;ENSP00000427089:R230C;ENSP00000423828:R230C	ENSP00000257430:R230C	R	+	1	0	APC	112156084	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.859000	0.55987	1.296000	0.44742	-0.175000	0.13238	CGT	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250738.2		+	ENST00000457016.1	Missense_Mutation	SNP	5 : 112128185 - 112128185 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	375	78
TPSD1	23430	broad.mit.edu	37	16	1306840	1306840	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1306840G>A	ENST00000211076.3	+	3	445	c.297G>A	c.(295-297)gaG>gaA	p.E99E	TPSD1_ENST00000397534.2_Silent_p.E92E	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	99	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				AACTGCGGGAGCAGCACCTCT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	53	51			NA	NA	16		NA											NA				1306840		2199	4300	6499	SO:0001819	synonymous_variant			AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	23430	23430	3.4.21.59		14118	protein-coding gene	gene with protein product	mMCP-7-like II, mMCP-7-like I, MMCP-7-LIKE-2	609272			NA	9920877	Standard		NM_012217	NA	Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.297G>A	16.37:g.1306840G>A		NA	O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	37	CCDS10432.1																																																																																			TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250320.2		+	ENST00000211076.3	Silent	SNP	16 : 1306840 - 1306840 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	222	45
CLUH	23277	broad.mit.edu	37	17	2600078	2600078	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2600078C>T	ENST00000570628.2	-	11	2111	c.2006G>A	c.(2005-2007)aGc>aAc	p.S669N	CLUH_ENST00000538975.1_Missense_Mutation_p.S669N|CLUH_ENST00000435359.1_Missense_Mutation_p.S669N					clustered mitochondria (cluA/CLU1) homolog	NA											NA						GCTGGCGCTGCTACCCTCCTC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	52	50			NA	NA	17		NA											NA				2600078		2077	4209	6286	SO:0001583	missense			AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361	23277	23277			29094	protein-coding gene	gene with protein product			KIAA0664	KIAA0664	NA		Standard	NM_015229	XM_005256567	NA	Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.2006G>A	17.37:g.2600078C>T	ENSP00000458986:p.Ser669Asn	NA		37	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	C	6.116	0.389678	0.11581	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	T;T	0.80566	-1.39;-1.39	4.93	4.93	0.64822	.	0.703229	0.15947	N	0.236886	T	0.66307	0.2776	N	0.25647	0.755	0.20703	N	0.999864	B;B	0.14012	0.002;0.009	B;B	0.08055	0.003;0.003	T	0.49093	-0.8975	10	0.29301	T	0.29	.	6.5436	0.22394	0.1837:0.7193:0.0:0.097	.	669;669	O75153;C9J6D7	K0664_HUMAN;.	N	669	ENSP00000388872:S669N;ENSP00000439628:S669N	ENSP00000320468:S669N	S	-	2	0	KIAA0664	2546828	0.138000	0.22547	0.133000	0.22050	0.058000	0.15608	3.160000	0.50739	2.673000	0.90976	0.591000	0.81541	AGC	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437807.2		-	ENST00000570628.2	Missense_Mutation	SNP	17 : 2600078 - 2600078 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	330	58
AP1B1	162	broad.mit.edu	37	22	29727889	29727889	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29727889C>T	ENST00000317368.7	-	17	2431	c.2245G>A	c.(2245-2247)Gcc>Acc	p.A749T	AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000432560.2_Missense_Mutation_p.A769T|AP1B1_ENST00000415447.1_Missense_Mutation_p.A769T|AP1B1_ENST00000356015.2_Missense_Mutation_p.A769T|AP1B1_ENST00000357586.2_Missense_Mutation_p.A776T|AP1B1_ENST00000402502.1_Missense_Mutation_p.A769T|AP1B1_ENST00000405198.1_Missense_Mutation_p.A776T	NM_001166019.1	NP_001159491	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	776					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AGGGGGGTGGCGGGGGCCAGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	33	33			NA	NA	22		NA											NA				29727889		2202	4300	6502	SO:0001583	missense			L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280	162	162			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2	NA	7987321, 8812422	Standard	NM_001127	NM_145730	NA	Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000317368.7:c.2245G>A	22.37:g.29727889C>T	ENSP00000319361:p.Ala749Thr	NA	C9JRD1|P78436|Q20WL3	37	CCDS54515.1	.	.	.	.	.	.	.	.	.	.	c	12.12	1.842665	0.32606	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447	T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86	4.58	3.57	0.40892	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);Clathrin adaptor, beta-adaptin, appendage, Ig-like subdomain (1);	0.098822	0.64402	N	0.000001	T	0.48132	0.1483	M	0.76002	2.32	0.80722	D	1	B;B;B;B;B	0.19073	0.028;0.005;0.005;0.033;0.012	B;B;B;B;B	0.19946	0.027;0.013;0.013;0.021;0.013	T	0.49570	-0.8926	10	0.44086	T	0.13	-20.8288	12.3414	0.55095	0.0:0.917:0.0:0.083	.	329;749;769;776;769	B4DS79;F8WDL0;Q10567-2;Q10567;Q10567-3	.;.;.;AP1B1_HUMAN;.	T	776;769;769;776;749;769;769	ENSP00000350199:A776T;ENSP00000348297:A769T;ENSP00000400065:A769T;ENSP00000384194:A776T;ENSP00000319361:A749T;ENSP00000386071:A769T;ENSP00000387612:A769T	ENSP00000319361:A749T	A	-	1	0	AP1B1	28057889	0.986000	0.35501	1.000000	0.80357	0.013000	0.08279	2.087000	0.41653	1.167000	0.42706	-0.258000	0.10820	GCC	AP1B1-002	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321375.1		-	ENST00000317368.7	Missense_Mutation	SNP	22 : 29727889 - 29727889 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	355	74
ERO1LB	56605	broad.mit.edu	37	1	236415367	236415367	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236415367C>T	ENST00000354619.5	-	4	532	c.331G>A	c.(331-333)Gct>Act	p.A111T	ERO1LB_ENST00000327333.8_Missense_Mutation_p.A111T	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	111					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			GAATGCCCAGCTTTTATTCCA	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	104	104			NA	NA	1		NA											NA				236415367		2203	4300	6503	SO:0001583	missense			AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619	56605	56605			14355	protein-coding gene	gene with protein product		615437			NA	10818100	Standard	NM_019891	NM_019891	NA	Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.331G>A	1.37:g.236415367C>T	ENSP00000346635:p.Ala111Thr	NA	Q5T1H4|Q8IZ11|Q9NR62	37	CCDS31064.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925860	0.73213	.	.	ENSG00000086619	ENST00000354619;ENST00000327333	D;T	0.82081	-1.57;0.93	5.77	5.77	0.91146	.	0.054456	0.85682	D	0.000000	D	0.83801	0.5333	L	0.41824	1.3	0.49130	D	0.999751	P;B	0.52842	0.956;0.1	P;B	0.53006	0.715;0.155	T	0.80118	-0.1516	10	0.22706	T	0.39	-16.869	18.7696	0.91885	0.0:1.0:0.0:0.0	.	111;111	B4DF57;Q86YB8	.;ERO1B_HUMAN	T	111	ENSP00000346635:A111T;ENSP00000377574:A111T	ENSP00000377574:A111T	A	-	1	0	ERO1LB	234481990	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.684000	0.54671	2.729000	0.93468	0.655000	0.94253	GCT	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096371.1		-	ENST00000354619.5	Missense_Mutation	SNP	1 : 236415367 - 236415367 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	283	84
ROBO1	6091	broad.mit.edu	37	3	78719257	78719257	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:78719257G>A	ENST00000464233.1	-	11	1650	c.1537C>T	c.(1537-1539)Cga>Tga	p.R513*	ROBO1_ENST00000467549.1_Nonsense_Mutation_p.R477*|ROBO1_ENST00000495273.1_Nonsense_Mutation_p.R477*|ROBO1_ENST00000436010.2_Nonsense_Mutation_p.R474*	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	513	Ig-like C2-type 5.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTAGCATATCGGATCTGCAGT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	93	92			NA	NA	3		NA											NA				78719257		1968	4154	6122	SO:0001587	stop_gained			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855	6091	6091		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	10249	protein-coding gene	gene with protein product		602430	roundabout (axon guidance receptor, Drosophila) homolog 1		NA	9458045, 9608531	Standard	NM_002941	NM_002941	NA	Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.1537C>T	3.37:g.78719257G>A	ENSP00000420321:p.Arg513*	NA	D3DU36|Q7Z300|Q9BUS7	37	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	37	6.388750	0.97529	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414;ENST00000495961	.	.	.	5.78	4.89	0.63831	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0177	0.71600	0.0:0.0:0.7413:0.2587	.	.	.	.	X	474;477;513;477;477;513;46	.	.	R	-	1	2	ROBO1	78801947	1.000000	0.71417	1.000000	0.80357	0.228000	0.25075	3.100000	0.50275	1.405000	0.46838	0.591000	0.81541	CGA	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352610.1		-	ENST00000464233.1	Nonsense_Mutation	SNP	3 : 78719257 - 78719257 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	112	14
ITSN1	6453	broad.mit.edu	37	21	35191585	35191585	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35191585C>T	ENST00000381318.3	+	24	3262	c.2974C>T	c.(2974-2976)Cga>Tga	p.R992*	ITSN1_ENST00000399326.3_Nonsense_Mutation_p.R987*|ITSN1_ENST00000379960.5_3'UTR|ITSN1_ENST00000399355.2_Nonsense_Mutation_p.R992*|ITSN1_ENST00000381285.4_Nonsense_Mutation_p.R992*|ITSN1_ENST00000437442.2_Nonsense_Mutation_p.R987*|ITSN1_ENST00000381291.4_Nonsense_Mutation_p.R992*|ITSN1_ENST00000399353.1_Nonsense_Mutation_p.R950*|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Nonsense_Mutation_p.R987*|ITSN1_ENST00000399352.1_Nonsense_Mutation_p.R987*|ITSN1_ENST00000399367.3_Nonsense_Mutation_p.R987*	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	992					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TAGTCTAAAGCGAGTAGCCTC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	57	56			NA	NA	21		NA											NA				35191585		2203	4300	6503	SO:0001587	stop_gained			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726	6453	6453		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing, EF-hand domain containing	6183	protein-coding gene	gene with protein product	SH3 domain protein-1A, human intersectin-SH3 domain-containing protein SH3P17, Src homology 3 domain-containing protein, intersectin 1 short form variant, 11, intersectin 1 short form variant 3, intersectin short variant 12	602442		SH3D1A, ITSN	NA	9799604, 9813051	Standard	NM_003024	NM_003024	NA	Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.2974C>T	21.37:g.35191585C>T	ENSP00000370719:p.Arg992*	NA	O95216|Q1ED40|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	37	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	C	44	10.875900	0.99482	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000437442;ENST00000399326	.	.	.	5.56	3.17	0.36434	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.4925	0.55907	0.7237:0.2763:0.0:0.0	.	.	.	.	X	950;992;992;992;992;987;987;987;992;987;987;987	.	ENSP00000370685:R992X	R	+	1	2	ITSN1	34113455	1.000000	0.71417	0.999000	0.59377	0.923000	0.55619	2.377000	0.44300	0.384000	0.24942	-0.500000	0.04577	CGA	ITSN1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000140070.4		+	ENST00000381318.3	Nonsense_Mutation	SNP	21 : 35191585 - 35191585 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	22
ANK1	286	broad.mit.edu	37	8	41571725	41571725	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41571725G>A	ENST00000289734.7	-	16	1832	c.1749C>T	c.(1747-1749)gaC>gaT	p.D583D	ANK1_ENST00000265709.8_Silent_p.D616D|ANK1_ENST00000379758.2_Silent_p.D583D|ANK1_ENST00000347528.4_Silent_p.D583D|ANK1_ENST00000352337.4_Silent_p.D583D|ANK1_ENST00000396945.1_Silent_p.D583D|ANK1_ENST00000396942.1_Silent_p.D583D	NM_000037.3	NP_000028.3	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	583	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCTTGACGATGTCCAGGTTGT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	30	29			NA	NA	8		NA											NA				41571725		2203	4300	6503	SO:0001819	synonymous_variant			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534	286	286		Ankyrin repeat domain containing	492	protein-coding gene	gene with protein product		612641		ANK	NA	1689849	Standard	NM_020475	NM_001142445	NA	Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000289734.7:c.1749C>T	8.37:g.41571725G>A		NA	A6NJ23|O43400|Q13768|Q59FP2|Q8N604|Q99407	37	CCDS6121.1																																																																																			ANK1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317298.1		-	ENST00000289734.7	Silent	SNP	8 : 41571725 - 41571725 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	140	20
ZSWIM5	57643	broad.mit.edu	37	1	45504624	45504624	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45504624G>T	ENST00000359600.5	-	8	2083	c.1878C>A	c.(1876-1878)ggC>ggA	p.G626G		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	626							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TCTCCAGATAGCCATCATCAT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	52	52			NA	NA	1		NA											NA				45504624		1988	4174	6162	SO:0001819	synonymous_variant			AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415	57643	57643		Zinc fingers, SWIM-type	29299	protein-coding gene	gene with protein product					NA	10819331	Standard	XM_046581	NM_020883	NA	Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.1878C>A	1.37:g.45504624G>T		NA	Q5SXQ9	37	CCDS41319.1																																																																																			ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000024823.2		-	ENST00000359600.5	Silent	SNP	1 : 45504624 - 45504624 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	257	19
CCDC64	92558	broad.mit.edu	37	12	120436420	120436420	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120436420G>A	ENST00000397558.2	+	2	525	c.525G>A	c.(523-525)aaG>aaA	p.K175K		NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	175					Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGATGTGAAGCAGCTACAGG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	85	83			NA	NA	12		NA											NA				120436420		2036	4193	6229	SO:0001819	synonymous_variant			U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127	92558	92558			28095	protein-coding gene	gene with protein product					NA		Standard	NM_207311	NM_207311	NA	Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.525G>A	12.37:g.120436420G>A		NA	A8MUC8|O95000	37	CCDS41845.1																																																																																			CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403390.2		+	ENST00000397558.2	Silent	SNP	12 : 120436420 - 120436420 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	362	66
NLGN1	22871	broad.mit.edu	37	3	173997160	173997160	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:173997160C>A	ENST00000457714.1	+	6	1798	c.1369C>A	c.(1369-1371)Ctg>Atg	p.L457M	NLGN1_ENST00000361589.4_Missense_Mutation_p.L457M|NLGN1_ENST00000545397.1_Missense_Mutation_p.L457M|NLGN1_ENST00000401917.3_Missense_Mutation_p.L497M	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	474					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			AAAGACATTACTGGCTTTGTT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	97	99			NA	NA	3		NA											NA				173997160		2203	4300	6503	SO:0001583	missense			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760	22871	22871			14291	protein-coding gene	gene with protein product		600568			NA	10767552, 10819331	Standard	NM_014932	NM_014932	NA	Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1369C>A	3.37:g.173997160C>A	ENSP00000392500:p.Leu457Met	NA	Q9UPT2	37	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	T	11.20	1.568022	0.28003	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	5.89	3.55	0.40652	.	0.000000	0.64402	D	0.000001	T	0.58977	0.2160	L	0.28458	0.855	0.52501	D	0.99995	P;P	0.36712	0.566;0.516	B;B	0.44163	0.403;0.443	T	0.53012	-0.8498	10	0.44086	T	0.13	.	9.8156	0.40851	0.0:0.2601:0.0:0.7399	.	497;457	D2X2H5;Q8N2Q7-2	.;.	M	457;457;457;497	ENSP00000392500:L457M;ENSP00000354541:L457M;ENSP00000441108:L457M;ENSP00000385750:L497M	ENSP00000354541:L457M	L	+	1	2	NLGN1	175479854	0.479000	0.25925	0.985000	0.45067	0.984000	0.73092	0.071000	0.14594	0.164000	0.19529	-0.360000	0.07572	CTG	NLGN1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347054.3		+	ENST00000457714.1	Missense_Mutation	SNP	3 : 173997160 - 173997160 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	552	100
DCUN1D4	23142	broad.mit.edu	37	4	52740484	52740484	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52740484C>T	ENST00000334635.5	+	4	364	c.184C>T	c.(184-186)Cca>Tca	p.P62S	DCUN1D4_ENST00000381437.4_Missense_Mutation_p.P2S|DCUN1D4_ENST00000513800.1_3'UTR|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.P106S|DCUN1D4_ENST00000381441.3_Missense_Mutation_p.P62S	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	62										endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			TAAAGTGATGCCACCAAGGAA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	124	125			NA	NA	4		NA											NA				52740484		2203	4300	6503	SO:0001583	missense			D87466	CCDS3487.2, CCDS33982.1, CCDS75123.1	4q11	2013-06-10	2013-06-10		ENSG00000109184	ENSG00000109184	23142	23142			28998	protein-coding gene	gene with protein product		612977	DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae)		NA	15988528	Standard	NM_015115	XM_005265731	NA	Approved	KIAA0276	uc003gze.3	Q92564	OTTHUMG00000128700	ENST00000334635.5:c.184C>T	4.37:g.52740484C>T	ENSP00000334625:p.Pro62Ser	NA	Q7Z3F3|Q7Z6B8	37	CCDS33982.1	.	.	.	.	.	.	.	.	.	.	c	23.0	4.365101	0.82463	.	.	ENSG00000109184	ENST00000334635;ENST00000381441;ENST00000381437;ENST00000505403;ENST00000451288	.	.	.	5.18	5.18	0.71444	.	0.165490	0.53938	D	0.000041	T	0.62539	0.2436	L	0.39245	1.2	0.53005	D	0.999969	B;D;B	0.58970	0.264;0.984;0.264	B;P;B	0.58780	0.093;0.845;0.178	T	0.56153	-0.8026	9	0.19590	T	0.45	-15.7428	15.8845	0.79232	0.0:1.0:0.0:0.0	.	106;62;62	B4DH25;Q92564-2;Q92564	.;.;DCNL4_HUMAN	S	62;62;2;106;106	.	ENSP00000334625:P62S	P	+	1	0	DCUN1D4	52435241	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.207000	0.72159	2.426000	0.82243	0.651000	0.88453	CCA	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250599.2		+	ENST00000334635.5	Missense_Mutation	SNP	4 : 52740484 - 52740484 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	456	81
CYP3A43	64816	broad.mit.edu	37	7	99454485	99454485	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99454485C>T	ENST00000354829.2	+	9	931	c.828C>T	c.(826-828)atC>atT	p.I276I	CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000222382.5_Silent_p.I276I|CYP3A43_ENST00000417625.1_Silent_p.I166I|CYP3A43_ENST00000342499.4_Silent_p.I136I|CYP3A43_ENST00000312017.5_Silent_p.I276I|CYP3A43_ENST00000415413.1_Silent_p.I65I|CYP3A43_ENST00000444905.1_Silent_p.I23I	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	276			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	AACAGATGATCGACTCCCAGA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	101	99			NA	NA	7		NA											NA				99454485		2203	4300	6503	SO:0001819	synonymous_variant			AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461	64816	64816		Cytochrome P450s	17450	protein-coding gene	gene with protein product		606534	cytochrome P450, subfamily IIIA, polypeptide 43		NA	11160876, 11266076	Standard		NM_022820	NA	Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.828C>T	7.37:g.99454485C>T		NA	Q9HB52|Q9HB53|Q9HB54|Q9HB57	37	CCDS5676.1																																																																																			CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344379.1		+	ENST00000354829.2	Silent	SNP	7 : 99454485 - 99454485 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	608	111
DCHS2	54798	broad.mit.edu	37	4	155156624	155156624	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155156624G>A	ENST00000357232.4	-	25	7814	c.7815C>T	c.(7813-7815)aaC>aaT	p.N2605N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	NA					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGACCACCTCGTTACTGCAGT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	125	125			NA	NA	4		NA											NA				155156624		2203	4300	6503	SO:0001819	synonymous_variant			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410	54798	54798		Cadherins / Cadherin-related	23111	protein-coding gene	gene with protein product	cadherin-related family member 7	612486	cadherin-like 27, dachsous 2 (Drosophila)	CDH27, PCDH23	NA	15003449	Standard	NM_001142552	NM_017639	NA	Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7815C>T	4.37:g.155156624G>A		NA	Q4W5P9|Q6ZS61|Q9NXU8	37	CCDS3785.1																																																																																			DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365281.2		-	ENST00000357232.4	Silent	SNP	4 : 155156624 - 155156624 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	640	111
NLE1	54475	broad.mit.edu	37	17	33467027	33467027	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33467027C>A	ENST00000442241.4	-	3	260	c.221G>T	c.(220-222)gGg>gTg	p.G74V	NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000360831.5_Missense_Mutation_p.G74V|NLE1_ENST00000593176.1_5'UTR	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	74						nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				CAACGTCTTCCCCAGTGAGGA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	80	86			NA	NA	17		NA											NA				33467027		2203	4300	6503	SO:0001583	missense				CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536	54475	54475		WD repeat domain containing	19889	protein-coding gene	gene with protein product	Notchless gene homolog, (Drosophila)				NA		Standard	NM_018096	XM_005257989	NA	Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000442241.4:c.221G>T	17.37:g.33467027C>A	ENSP00000413572:p.Gly74Val	NA	O60868|Q59GJ8|Q9BU54	37	CCDS11291.1	.	.	.	.	.	.	.	.	.	.	C	9.125	1.010051	0.19277	.	.	ENSG00000073536	ENST00000442241;ENST00000537697	T	0.57436	0.4	5.22	-0.569	0.11756	NLE (1);	0.558737	0.20980	N	0.082221	T	0.35970	0.0950	L	0.41492	1.28	0.58432	D	0.999992	B	0.24043	0.096	B	0.31390	0.129	T	0.04565	-1.0942	10	0.17369	T	0.5	-12.3469	4.3035	0.10935	0.0:0.3614:0.1731:0.4654	.	74	Q9NVX2	NLE1_HUMAN	V	74	ENSP00000413572:G74V	ENSP00000413572:G74V	G	-	2	0	NLE1	30491140	0.976000	0.34144	0.995000	0.50966	0.700000	0.40528	0.986000	0.29590	0.075000	0.16796	-0.145000	0.13849	GGG	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256441.2		-	ENST00000442241.4	Missense_Mutation	SNP	17 : 33467027 - 33467027 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	38
RPL4	6124	broad.mit.edu	37	15	66791951	66791951	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66791951C>T	ENST00000568588.1	-	11	1573	c.796G>A	c.(796-798)Gca>Aca	p.A266T	RPL4_ENST00000307961.6_Missense_Mutation_p.A360T			P36578	RL4_HUMAN	ribosomal protein L4	360					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						GCTTGTAGTGCCGCTGCTGCA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	36	35			NA	NA	15		NA											NA				66791951		2197	4288	6485	SO:0001583	missense			AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444	6124	6124		L ribosomal proteins	10353	protein-coding gene	gene with protein product	60S ribosomal protein L4	180479			NA	9582194, 8268230	Standard	NM_000968	NM_000968	NA	Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000568588.1:c.796G>A	15.37:g.66791951C>T	ENSP00000454281:p.Ala266Thr	NA	A8K502|P39029|Q4VBR0|Q969Z9	37		.	.	.	.	.	.	.	.	.	.	C	3.245	-0.154500	0.06544	.	.	ENSG00000174444	ENST00000307961;ENST00000432669	.	.	.	2.03	2.03	0.26663	.	0.606515	0.15758	N	0.246053	T	0.16769	0.0403	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17561	-1.0365	9	0.18276	T	0.48	0.0827	4.5628	0.12168	0.0:0.6969:0.0:0.3031	.	360	P36578	RL4_HUMAN	T	360	.	ENSP00000311430:A360T	A	-	1	0	RPL4	64579005	0.024000	0.19004	0.023000	0.16930	0.045000	0.14185	1.306000	0.33505	1.048000	0.40298	0.313000	0.20887	GCA	RPL4-020	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000420737.1		-	ENST00000568588.1	Missense_Mutation	SNP	15 : 66791951 - 66791951 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	343	22
REM2	161253	broad.mit.edu	37	14	23354091	23354091	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23354091G>T	ENST00000536884.1	+	2	378	c.312G>T	c.(310-312)ggG>ggT	p.G104G	REM2_ENST00000267396.4_Silent_p.G104G			Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	104					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		TGGGCTCAGGGGAGGCAGCCC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	48	46			NA	NA	14		NA											NA				23354091		2174	4280	6454	SO:0001819	synonymous_variant				CCDS45082.1	14q11.2	2014-05-09	2006-12-14		ENSG00000139890	ENSG00000139890	161253	161253			20248	protein-coding gene	gene with protein product			RAS (RAD and GEM) like GTP binding 2		NA	10727423	Standard	NM_173527	NM_173527	NA	Approved	FLJ38964	uc001whf.1	Q8IYK8	OTTHUMG00000170277	ENST00000536884.1:c.312G>T	14.37:g.23354091G>T		NA	Q8N8R8	37																																																																																				REM2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000408291.1		+	ENST00000536884.1	Silent	SNP	14 : 23354091 - 23354091 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	332	56
TARS	6897	broad.mit.edu	37	5	33461024	33461024	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33461024G>A	ENST00000455217.2	+	13	1489	c.1367G>A	c.(1366-1368)cGg>cAg	p.R456Q	TARS_ENST00000541634.1_Missense_Mutation_p.R319Q|TARS_ENST00000265112.3_Missense_Mutation_p.R423Q|TARS_ENST00000414361.2_Missense_Mutation_p.R302Q|TARS_ENST00000502553.1_Missense_Mutation_p.R423Q	NM_001258438.1	NP_001245367.1	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	423					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TTTGATCATCGGCCAAGGTCC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	74	73			NA	NA	5		NA											NA				33461024		2203	4300	6503	SO:0001583	missense			AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6897	6897	6.1.1.3	Aminoacyl tRNA synthetases / Class II	11572	protein-coding gene	gene with protein product	threonine tRNA ligase 1, cytoplasmic	187790			NA		Standard	NM_152295	NM_152295	NA	Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000455217.2:c.1367G>A	5.37:g.33461024G>A	ENSP00000387710:p.Arg456Gln	NA	A8K8I1|Q96FP5|Q9BWA6	37	CCDS58943.1	.	.	.	.	.	.	.	.	.	.	G	34	5.372127	0.95923	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	6.17	6.17	0.99709	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	T	0.81158	0.4764	L	0.59967	1.855	0.80722	D	1	D;D;D;D	0.89917	0.983;1.0;0.999;1.0	B;D;D;D	0.75484	0.427;0.986;0.959;0.986	T	0.80476	-0.1366	10	0.87932	D	0	-7.802	20.8794	0.99867	0.0:0.0:1.0:0.0	.	302;456;319;423	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	Q	423;423;319;456;302	ENSP00000424387:R423Q;ENSP00000265112:R423Q;ENSP00000438469:R319Q;ENSP00000387710:R456Q;ENSP00000394291:R302Q	ENSP00000265112:R423Q	R	+	2	0	TARS	33496781	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.820000	0.99359	2.941000	0.99782	0.655000	0.94253	CGG	TARS-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366774.1		+	ENST00000455217.2	Missense_Mutation	SNP	5 : 33461024 - 33461024 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	384	76
NADSYN1	55191	broad.mit.edu	37	11	71183521	71183521	+	Missense_Mutation	SNP	G	G	A	rs141650373		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71183521G>A	ENST00000319023.2	+	6	622	c.434G>A	c.(433-435)cGg>cAg	p.R145Q		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	145	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTTCTGCCTCGGATGATACAG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(79;763 1781 6490 50276)							NA				0								G	GLN/ARG	2,4398	4.2+/-10.8	0,2,2198	104	92	96		434	4.3	1	11	dbSNP_134	96	0,8588		0,0,4294	no	missense	NADSYN1	NM_018161.4	43	0,2,6492	AA,AG,GG	NA	0.0,0.0455,0.0154	probably-damaging	145/707	71183521	2,12986	2200	4294	6494	SO:0001583	missense			AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890	55191	55191			29832	protein-coding gene	gene with protein product		608285			NA	12547821	Standard	NM_018161	NM_018161	NA	Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.434G>A	11.37:g.71183521G>A	ENSP00000326424:p.Arg145Gln	NA	Q86SN2|Q9HA25|Q9NVM8	37	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.296227	0.40594	4.55E-4	0.0	ENSG00000172890	ENST00000319023	D	0.87412	-2.25	4.26	4.26	0.50523	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.000000	0.85682	D	0.000000	D	0.90239	0.6948	M	0.70787	2.145	0.80722	D	1	D	0.65815	0.995	P	0.60236	0.871	D	0.87925	0.2706	10	0.23302	T	0.38	-32.6813	12.0571	0.53542	0.0:0.0:1.0:0.0	.	145	Q6IA69	NADE_HUMAN	Q	145	ENSP00000326424:R145Q	ENSP00000326424:R145Q	R	+	2	0	NADSYN1	70861169	1.000000	0.71417	1.000000	0.80357	0.186000	0.23388	5.044000	0.64214	2.214000	0.71695	0.561000	0.74099	CGG	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394356.1		+	ENST00000319023.2	Missense_Mutation	SNP	11 : 71183521 - 71183521 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	240	38
PREX1	57580	broad.mit.edu	37	20	47274755	47274755	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47274755C>T	ENST00000371941.3	-	17	1915	c.1893G>A	c.(1891-1893)caG>caA	p.Q631Q	PREX1_ENST00000396220.1_Silent_p.Q631Q	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	631	PDZ.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AGTCCTCCTCCTGGGGCAGGA	0.672		NA									OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													192	179	184			NA	NA	20		NA											NA				47274755		2203	4300	6503	SO:0001819	synonymous_variant			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126	57580	57580		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	32594	protein-coding gene	gene with protein product		606905			NA	11955434, 15545267, 16301320	Standard	NM_020820	NM_020820	NA	Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.1893G>A	20.37:g.47274755C>T		945	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	37	CCDS13410.1																																																																																			PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079623.1		-	ENST00000371941.3	Silent	SNP	20 : 47274755 - 47274755 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1733	377
FGF14	2259	broad.mit.edu	37	13	102568890	102568890	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:102568890T>G	ENST00000376143.4	-	1	105	c.106A>C	c.(106-108)Aac>Cac	p.N36H	FGF14_ENST00000376131.4_Intron	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	36					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGCCCGCGGTTCTTGCTGGGG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	34	35			NA	NA	13		NA											NA				102568890		2203	4300	6503	SO:0001583	missense				CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466	2259	2259			3671	protein-coding gene	gene with protein product		601515			NA	8790420, 17236779	Standard		NM_175929	NA	Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.106A>C	13.37:g.102568890T>G	ENSP00000365313:p.Asn36His	NA	Q86YN7|Q96QX6	37	CCDS9501.1	.	.	.	.	.	.	.	.	.	.	T	16.99	3.274869	0.59649	.	.	ENSG00000102466	ENST00000376143	T	0.77358	-1.09	5.28	4.02	0.46733	.	.	.	.	.	T	0.66934	0.2840	L	0.34521	1.04	0.38969	D	0.958714	B	0.33073	0.396	B	0.32022	0.139	T	0.70245	-0.4925	9	0.48119	T	0.1	.	11.5774	0.50869	0.0:0.0:0.1492:0.8508	.	36	Q92915	FGF14_HUMAN	H	36	ENSP00000365313:N36H	ENSP00000365313:N36H	N	-	1	0	FGF14	101366891	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.493000	0.60341	1.989000	0.58080	0.460000	0.39030	AAC	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045679.2		-	ENST00000376143.4	Missense_Mutation	SNP	13 : 102568890 - 102568890 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	232	36
RCAN3	11123	broad.mit.edu	37	1	24859587	24859587	+	Silent	SNP	C	C	T	rs34116411	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24859587C>T	ENST00000374395.4	+	4	697	c.384C>T	c.(382-384)ggC>ggT	p.G128G	RCAN3_ENST00000374393.2_Intron|RCAN3_ENST00000436717.2_Intron|RCAN3_ENST00000412742.2_Intron|RCAN3_ENST00000538532.1_Silent_p.G70G	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	128					anatomical structure morphogenesis|calcium-mediated signaling		nucleotide binding|RNA binding|troponin I binding			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		AGATGTCCGGCGAAGTGCGGG	0.562		NA											C	9	0.0041	0.02	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0041	1	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0								C		84,4322	72.0+/-110.0	0,84,2119	56	49	51		384	-5.4	0	1	dbSNP_126	51	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RCAN3	NM_013441.2		0,85,6418	TT,TC,CC	NA	0.0116,1.9065,0.6535		128/242	24859587	85,12921	2203	4300	6503	SO:0001819	synonymous_variant				CCDS254.1, CCDS57980.1, CCDS57981.1, CCDS57982.1, CCDS72730.1	1p35.3-p33	2008-02-05	2007-06-26	2007-06-26	ENSG00000117602	ENSG00000117602	11123	11123			3042	protein-coding gene	gene with protein product		605860	Down syndrome critical region gene 1-like 2	DSCR1L2	NA	10756093	Standard		NM_001251984	NA	Approved		uc001bjj.3	Q9UKA8	OTTHUMG00000003298	ENST00000374395.4:c.384C>T	1.37:g.24859587C>T		NA	Q5TGC6|Q9NUC8|Q9UKA7	37	CCDS254.1																																																																																			RCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000009176.2		+	ENST00000374395.4	Silent	SNP	1 : 24859587 - 24859587 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	180	27
CPOX	1371	broad.mit.edu	37	3	98307569	98307569	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98307569T>G	ENST00000264193.2	-	4	1159	c.941A>C	c.(940-942)aAa>aCa	p.K314T		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	314						mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						TTTTTTAAATTTGGGGTAGAG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(75;7 1223 22300 43648 48951)							NA				0													99	101	100			NA	NA	3		NA											NA				98307569		2203	4300	6503	SO:0001583	missense			BC017210	CCDS2932.1	3q12	2012-10-02		2004-01-30		ENSG00000080819	1371	1371	1.3.3.3		2321	protein-coding gene	gene with protein product	coproporphyria	612732	coproporphyrinogen oxidase (coproporphyria, harderoporphyria)	CPO	NA	7757079, 8407975	Standard	NM_000097	NM_000097	NA	Approved	CPX, HCP	uc003dsx.3	P36551		ENST00000264193.2:c.941A>C	3.37:g.98307569T>G	ENSP00000264193:p.Lys314Thr	NA	A8K275|Q14060|Q53F08|Q8IZ45|Q96AF3	37	CCDS2932.1	.	.	.	.	.	.	.	.	.	.	T	16.43	3.121857	0.56613	.	.	ENSG00000080819	ENST00000264193	D	0.93953	-3.32	5.74	4.59	0.56863	.	0.090735	0.85682	D	0.000000	D	0.92130	0.7505	L	0.58354	1.805	0.47737	D	0.999503	P	0.36874	0.572	B	0.42361	0.385	D	0.90848	0.4729	10	0.59425	D	0.04	-16.4938	10.0387	0.42144	0.0:0.0795:0.0:0.9205	.	314	P36551	HEM6_HUMAN	T	314	ENSP00000264193:K314T	ENSP00000264193:K314T	K	-	2	0	CPOX	99790259	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.919000	0.56439	1.121000	0.41925	0.460000	0.39030	AAA	CPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358900.1		-	ENST00000264193.2	Missense_Mutation	SNP	3 : 98307569 - 98307569 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	351	13
CCDC40	55036	broad.mit.edu	37	17	78032362	78032362	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78032362A>G	ENST00000397545.4	+	8	1256	c.1229A>G	c.(1228-1230)gAc>gGc	p.D410G	CCDC40_ENST00000374876.4_Missense_Mutation_p.D410G|CCDC40_ENST00000269318.5_Missense_Mutation_p.D410G|CCDC40_ENST00000374877.3_Missense_Mutation_p.D410G	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	410					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ATCGACCAGGACATGCGTGAC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	69	68			NA	NA	17		NA											NA				78032362		2115	4235	6350	SO:0001583	missense			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519	55036	55036			26090	protein-coding gene	gene with protein product		613799			NA	21131974	Standard	XM_371082	NM_017950	NA	Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1229A>G	17.37:g.78032362A>G	ENSP00000380679:p.Asp410Gly	NA	A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	37	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	A	14.61	2.585639	0.46110	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	T;D;T;T	0.85339	0.66;-1.97;0.41;0.68	4.41	4.41	0.53225	.	.	.	.	.	D	0.91918	0.7441	M	0.80616	2.505	0.43890	D	0.996517	D;D;D	0.89917	1.0;0.993;0.989	D;P;P	0.77004	0.989;0.725;0.766	D	0.93076	0.6487	9	0.87932	D	0	-42.6986	13.9156	0.63895	1.0:0.0:0.0:0.0	.	410;410;193	Q4G0X9-5;Q4G0X9;Q4G0X9-3	.;CCD40_HUMAN;.	G	410	ENSP00000364011:D410G;ENSP00000269318:D410G;ENSP00000364010:D410G;ENSP00000380679:D410G	ENSP00000269318:D410G	D	+	2	0	CCDC40	75646957	1.000000	0.71417	0.860000	0.33809	0.009000	0.06853	6.411000	0.73298	1.733000	0.51620	0.260000	0.18958	GAC	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256005.2		+	ENST00000397545.4	Missense_Mutation	SNP	17 : 78032362 - 78032362 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	248	9
LPAR4	2846	broad.mit.edu	37	X	78010800	78010800	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:78010800G>A	ENST00000435339.3	+	2	820	c.434G>A	c.(433-435)cGa>cAa	p.R145Q		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	NA						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	p.R145Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TATCCTTTTCGATCTCGTACT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											216	147	170			NA	NA	X		NA											NA				78010800		2203	4300	6503	SO:0001583	missense			U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145	2846	2846		GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid	4478	protein-coding gene	gene with protein product		300086	G protein-coupled receptor 23	GPR23	NA		Standard	NM_005296	NM_005296	NA	Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.434G>A	X.37:g.78010800G>A	ENSP00000408205:p.Arg145Gln	NA	B2RAC7|O15132|Q502U9|Q6NSP5	37	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725257	0.68959	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.40756	1.02;1.02	4.21	3.34	0.38264	GPCR, rhodopsin-like superfamily (1);	0.074980	0.56097	N	0.000035	T	0.42630	0.1211	L	0.41906	1.305	0.45354	D	0.998343	D	0.56746	0.977	P	0.52066	0.689	T	0.27157	-1.0082	10	0.52906	T	0.07	.	9.927	0.41498	0.1045:0.0:0.8955:0.0	.	145	Q99677	LPAR4_HUMAN	Q	145	ENSP00000408205:R145Q;ENSP00000362398:R145Q	ENSP00000362398:R145Q	R	+	2	0	LPAR4	77897456	1.000000	0.71417	0.995000	0.50966	0.950000	0.60333	5.028000	0.64115	0.790000	0.33803	0.422000	0.28245	CGA	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057322.2		+	ENST00000435339.3	Missense_Mutation	SNP	X : 78010800 - 78010800 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	381	107
HOXC9	3225	broad.mit.edu	37	12	54394142	54394142	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54394142C>T	ENST00000303450.4	+	1	240	c.170C>T	c.(169-171)cCc>cTc	p.P57L	HOXC9_ENST00000508190.1_Missense_Mutation_p.P57L|HOXC9_ENST00000504557.1_Intron|RP11-834C11.12_ENST00000513209.1_Intron	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	57					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						AGCTTCGCGCCCAAGCCGGCA	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	38	38			NA	NA	12		NA											NA				54394142		2202	4299	6501	SO:0001583	missense				CCDS8869.1	12q13.13	2011-06-20	2005-12-22			ENSG00000180806	3225	3225		Homeoboxes / ANTP class : HOXL subclass	5130	protein-coding gene	gene with protein product		142971	homeo box C9	HOX3, HOX3B	NA	1973146	Standard		NM_006897	NA	Approved		uc001seq.3	P31274		ENST00000303450.4:c.170C>T	12.37:g.54394142C>T	ENSP00000302836:p.Pro57Leu	NA	B2RCN7|Q9H1I0	37	CCDS8869.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515582	0.85389	.	.	ENSG00000180806	ENST00000508190;ENST00000303450	D;D	0.95885	-3.84;-3.84	4.04	4.04	0.47022	Hox9, N-terminal activation domain (1);	0.000000	0.64402	D	0.000001	D	0.97949	0.9325	M	0.91406	3.205	0.80722	D	1	D	0.63046	0.992	D	0.68483	0.958	D	0.98931	1.0787	10	0.87932	D	0	.	15.4974	0.75666	0.0:1.0:0.0:0.0	.	57	P31274	HXC9_HUMAN	L	57	ENSP00000423861:P57L;ENSP00000302836:P57L	ENSP00000302836:P57L	P	+	2	0	HOXC9	52680409	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.430000	0.80321	2.268000	0.75426	0.561000	0.74099	CCC	HOXC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358958.1		+	ENST00000303450.4	Missense_Mutation	SNP	12 : 54394142 - 54394142 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	59
NOX5	79400	broad.mit.edu	37	15	69348991	69348991	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69348991C>T	ENST00000260364.5	+	17	2500	c.2199C>T	c.(2197-2199)ggC>ggT	p.G733G	NOX5_ENST00000388866.3_Silent_p.G751G|NOX5_ENST00000448182.3_Silent_p.G705G|NOX5_ENST00000455873.3_Silent_p.G716G|NOX5_ENST00000530406.2_Silent_p.G723G			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	751					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TGCTGAAGGGCCATTGTGAGA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	81	82			NA	NA	15		NA											NA				69348991		2200	4298	6498	SO:0001819	synonymous_variant			AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346	79400	79400		EF-hand domain containing	14874	protein-coding gene	gene with protein product		606572			NA	11483596	Standard	NM_024505	NM_001184779	NA	Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000260364.5:c.2199C>T	15.37:g.69348991C>T		NA	B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	37																																																																																				NOX5-010	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000416639.1		+	ENST00000260364.5	Silent	SNP	15 : 69348991 - 69348991 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	334	74
TMEM51	55092	broad.mit.edu	37	1	15541680	15541680	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15541680C>A	ENST00000428417.1	+	2	543	c.97C>A	c.(97-99)Ctg>Atg	p.L33M	TMEM51_ENST00000376014.3_Missense_Mutation_p.L33M|TMEM51_ENST00000434578.2_Missense_Mutation_p.L33M|TMEM51_ENST00000376008.2_Missense_Mutation_p.L33M|TMEM51_ENST00000400796.3_Missense_Mutation_p.L33M	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	33						integral to membrane				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		CATGTGGAACCTGGTACCCGG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	129	127			NA	NA	1		NA											NA				15541680		2203	4300	6503	SO:0001583	missense			AK098467	CCDS154.1	1p36.21	2008-02-05	2005-05-22	2005-05-22	ENSG00000171729	ENSG00000171729	55092	55092			25488	protein-coding gene	gene with protein product			chromosome 1 open reading frame 72	C1orf72	NA	12477932	Standard	NM_018022	NM_018022	NA	Approved	FLJ10199	uc001avx.3	Q9NW97	OTTHUMG00000002046	ENST00000428417.1:c.97C>A	1.37:g.15541680C>A	ENSP00000394899:p.Leu33Met	NA	A8K819	37	CCDS154.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584107	0.65992	.	.	ENSG00000171729	ENST00000428417;ENST00000376014;ENST00000451326;ENST00000434578;ENST00000400796;ENST00000376008;ENST00000303840	T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23	5.43	5.43	0.79202	.	0.140331	0.51477	D	0.000095	T	0.54581	0.1867	M	0.64997	1.995	0.44677	D	0.997666	D;D	0.76494	0.999;0.999	D;D	0.71656	0.974;0.974	T	0.55970	-0.8056	10	0.66056	D	0.02	-1.3169	11.666	0.51374	0.0:0.9193:0.0:0.0807	.	33;33	Q9BSA0;Q9NW97	.;TMM51_HUMAN	M	33	ENSP00000394899:L33M;ENSP00000365182:L33M;ENSP00000412298:L33M;ENSP00000409665:L33M;ENSP00000383600:L33M;ENSP00000365176:L33M	ENSP00000303666:L33M	L	+	1	2	TMEM51	15414267	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	1.203000	0.32284	2.564000	0.86499	0.655000	0.94253	CTG	TMEM51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005699.3		+	ENST00000428417.1	Missense_Mutation	SNP	1 : 15541680 - 15541680 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	957	84
ACIN1	22985	broad.mit.edu	37	14	23528517	23528517	+	Missense_Mutation	SNP	C	C	A	rs140209940		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23528517C>A	ENST00000262710.1	-	19	4193	c.3866G>T	c.(3865-3867)aGg>aTg	p.R1289M	ACIN1_ENST00000555053.1_Missense_Mutation_p.R1276M|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1249M|ACIN1_ENST00000357481.2_Missense_Mutation_p.R531M|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1231M|ACIN1_ENST00000397341.3_Missense_Mutation_p.R531M|ACIN1_ENST00000557515.1_Missense_Mutation_p.R530M|ACIN1_ENST00000338631.6_Missense_Mutation_p.R562M	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1289	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ctctctctccctgtccctctc	0.612		NA									OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	82	90			NA	NA	14		NA											NA				23528517		2203	4300	6503	SO:0001583	missense			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813	22985	22985			17066	protein-coding gene	gene with protein product	functional spliceosome-associated protein 152	604562	apoptotic chromatin condensation inducer in the nucleus	ACINUS	NA	9734811, 10490026	Standard	NM_014977	NM_014977	NA	Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3866G>T	14.37:g.23528517C>A	ENSP00000262710:p.Arg1289Met	764	D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	37	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042506	0.55003	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12;0.12	4.29	4.29	0.51040	.	0.000000	0.37483	N	0.002076	T	0.63558	0.2521	N	0.24115	0.695	0.45161	D	0.998177	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.982;0.982	D;D;D;P;P	0.74348	0.983;0.962;0.962;0.629;0.629	T	0.69057	-0.5246	10	0.72032	D	0.01	-8.6477	16.0217	0.80503	0.0:1.0:0.0:0.0	.	1276;1289;1249;562;531	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	M	530;562;531;1289;1249;531;1276	ENSP00000451138:R530M;ENSP00000345541:R562M;ENSP00000350073:R531M;ENSP00000262710:R1289M;ENSP00000405677:R1249M;ENSP00000380502:R531M;ENSP00000451328:R1276M	ENSP00000262710:R1289M	R	-	2	0	ACIN1	22598357	1.000000	0.71417	0.997000	0.53966	0.933000	0.57130	1.905000	0.39878	2.379000	0.81126	0.563000	0.77884	AGG	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071707.3		-	ENST00000262710.1	Missense_Mutation	SNP	14 : 23528517 - 23528517 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	316	60
WARS	7453	broad.mit.edu	37	14	100828156	100828156	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100828156C>A	ENST00000355338.2	-	3	820	c.202G>T	c.(202-204)Gca>Tca	p.A68S	WARS_ENST00000557135.1_Missense_Mutation_p.A68S|WARS_ENST00000392882.2_Missense_Mutation_p.A68S|WARS_ENST00000344102.5_Missense_Mutation_p.A27S|WARS_ENST00000556645.1_Missense_Mutation_p.A27S|WARS_ENST00000358655.4_Missense_Mutation_p.A27S|WARS_ENST00000554084.1_5'UTR	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	68					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CTGGTAGGTGCTGGGTTCCCT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													223	210	214			NA	NA	14		NA											NA				100828156		2203	4300	6503	SO:0001583	missense			M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	7453	7453	6.1.1.2	Aminoacyl tRNA synthetases / Class I	12729	protein-coding gene	gene with protein product	tryptophan tRNA ligase 1, cytoplasmic	191050		IFI53	NA	1537332, 1763065	Standard	NM_004184	NM_004184	NA	Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.202G>T	14.37:g.100828156C>A	ENSP00000347495:p.Ala68Ser	NA	A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	37	CCDS9960.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.483647	0.26598	.	.	ENSG00000140105	ENST00000392882;ENST00000358655;ENST00000355338;ENST00000344102;ENST00000557135;ENST00000556645;ENST00000553395;ENST00000556504;ENST00000557722;ENST00000557297;ENST00000556435;ENST00000556338;ENST00000556698;ENST00000553524;ENST00000555410;ENST00000554772;ENST00000556660;ENST00000553413;ENST00000553769;ENST00000553545;ENST00000554820;ENST00000554509;ENST00000556209;ENST00000554605	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.44482	1.13;0.96;1.13;0.96;1.13;0.96;0.92;0.92;1.13;0.96;0.96;0.96;1.13;1.13;1.13;1.13;1.13;1.13;1.13;1.13;1.13;1.13;1.13;1.13	5.67	-1.88	0.07713	WHEP-TRS (1);	0.826647	0.11454	N	0.562476	T	0.21062	0.0507	L	0.34521	1.04	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.29366	-1.0014	10	0.06891	T	0.86	-1.0898	2.7529	0.05286	0.109:0.4165:0.1068:0.3677	.	68	P23381	SYWC_HUMAN	S	68;27;68;27;68;27;27;27;68;27;27;27;68;68;102;68;68;68;68;68;68;102;68;68	ENSP00000376620:A68S;ENSP00000351481:A27S;ENSP00000347495:A68S;ENSP00000339485:A27S;ENSP00000451460:A68S;ENSP00000451887:A27S;ENSP00000451490:A27S;ENSP00000451251:A27S;ENSP00000450500:A68S;ENSP00000451599:A27S;ENSP00000452519:A27S;ENSP00000451544:A27S;ENSP00000450427:A68S;ENSP00000451349:A68S;ENSP00000450934:A102S;ENSP00000451469:A68S;ENSP00000451402:A68S;ENSP00000452550:A68S;ENSP00000451906:A68S;ENSP00000451716:A68S;ENSP00000450563:A68S;ENSP00000451894:A102S;ENSP00000451027:A68S;ENSP00000450978:A68S	ENSP00000339485:A27S	A	-	1	0	WARS	99897909	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.126000	0.10563	-0.164000	0.10927	-0.140000	0.14226	GCA	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414236.1		-	ENST00000355338.2	Missense_Mutation	SNP	14 : 100828156 - 100828156 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	504	94
PEG3	5178	broad.mit.edu	37	19	57325143	57325143	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57325143G>T	ENST00000326441.9	-	10	5030	c.4667C>A	c.(4666-4668)gCc>gAc	p.A1556D	PEG3_ENST00000598410.1_Missense_Mutation_p.A1432D|PEG3_ENST00000593695.1_Missense_Mutation_p.A1430D|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.A1556D|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1556					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGCTTGATTGGCACCACCTGT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	117	124			NA	NA	19		NA											NA				57325143		2203	4300	6503	SO:0001583	missense			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300	5178	5178		Zinc fingers, C2H2-type, -, -, -	8826	protein-coding gene	gene with protein product		601483			NA	9149948	Standard		NM_006210	NA	Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4667C>A	19.37:g.57325143G>T	ENSP00000326581:p.Ala1556Asp	NA	P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746288	0.30955	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02837	4.14;4.14	4.09	-0.906	0.10524	.	1.506540	0.04129	N	0.317640	T	0.02533	0.0077	N	0.19112	0.55	.	.	.	B;B;B	0.26002	0.139;0.139;0.139	B;B;B	0.25140	0.058;0.058;0.058	T	0.46162	-0.9211	9	0.59425	D	0.04	-1.6917	5.2732	0.15636	0.0:0.2984:0.2608:0.4407	.	1432;1556;1491	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	D	1556	ENSP00000326581:A1556D;ENSP00000403051:A1556D	ENSP00000326581:A1556D	A	-	2	0	ZIM2	62016955	0.000000	0.05858	0.000000	0.03702	0.864000	0.49448	-0.421000	0.07053	-0.052000	0.13311	0.591000	0.81541	GCC	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416099.2		-	ENST00000326441.9	Missense_Mutation	SNP	19 : 57325143 - 57325143 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	414	64
MRPS2	51116	broad.mit.edu	37	9	138392846	138392846	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138392846G>A	ENST00000371785.1	+	3	255	c.46G>A	c.(46-48)Gcc>Acc	p.A16T	C9orf116_ENST00000371791.1_Intron|MRPS2_ENST00000488610.1_3'UTR|MRPS2_ENST00000241600.5_Missense_Mutation_p.A16T			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	16					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		CCCCCCAGGTGCCCGGGCCCC	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	16	15			NA	NA	9		NA											NA				138392846		2172	4246	6418	SO:0001583	missense			AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140	51116	51116		Mitochondrial ribosomal proteins / small subunits	14495	protein-coding gene	gene with protein product		611971			NA		Standard		NM_016034	NA	Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.46G>A	9.37:g.138392846G>A	ENSP00000360850:p.Ala16Thr	NA	Q5T899|Q9BSQ4	37	CCDS6990.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389307	0.42410	.	.	ENSG00000122140	ENST00000371785;ENST00000241600;ENST00000453385	T;T;T	0.36699	1.91;1.91;1.24	3.64	-1.15	0.09709	.	1.354340	0.05382	U	0.537332	T	0.22244	0.0536	L	0.40543	1.245	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.16276	-1.0408	10	0.11485	T	0.65	-4.5501	0.4291	0.00468	0.2622:0.1978:0.3387:0.2013	.	16	Q9Y399	RT02_HUMAN	T	16;16;30	ENSP00000360850:A16T;ENSP00000241600:A16T;ENSP00000400082:A30T	ENSP00000241600:A16T	A	+	1	0	MRPS2	137532667	0.094000	0.21725	0.011000	0.14972	0.102000	0.19082	0.105000	0.15333	-0.091000	0.12440	0.484000	0.47621	GCC	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054998.1		+	ENST00000371785.1	Missense_Mutation	SNP	9 : 138392846 - 138392846 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	232	52
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42137858	42137858	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42137858C>T	ENST00000342159.4	+	20	2081	c.2073C>T	c.(2071-2073)taC>taT	p.Y691Y	PLA2G4B_ENST00000542534.2_Silent_p.Y691Y|PLA2G4B_ENST00000452633.1_Silent_p.Y460Y|JMJD7-PLA2G4B_ENST00000382448.4_Silent_p.Y691Y|PLA2G4B_ENST00000458483.1_Silent_p.Y460Y	NM_001198588.1	NP_001185517.1	P0C869	PA24B_HUMAN	JMJD7-PLA2G4B readthrough	460	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						TCTCTCCCTACGAGGTCGGCT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	64	66			NA	NA	15		NA											NA				42137858		2203	4300	6503	SO:0001819	synonymous_variant				CCDS32202.1, CCDS55961.1	15q11.2-q21.3	2010-08-17			ENSG00000168970	ENSG00000168970	8681	8681			34449	other	readthrough					NA		Standard		NM_005090	NA	Approved		uc001zoo.4		OTTHUMG00000044442	ENST00000342159.4:c.2073C>T	15.37:g.42137858C>T		NA	B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	37	CCDS55961.1																																																																																			JMJD7-PLA2G4B-002	NOVEL	basic|readthrough_transcript|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326088.1		+	ENST00000342159.4	Silent	SNP	15 : 42137858 - 42137858 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	353	25
TUBD1	51174	broad.mit.edu	37	17	57963577	57963577	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57963577C>T	ENST00000340993.6	-	3	449	c.187G>A	c.(187-189)Gct>Act	p.A63T	TUBD1_ENST00000376094.4_Missense_Mutation_p.A63T|TUBD1_ENST00000592426.1_Missense_Mutation_p.A63T|TUBD1_ENST00000394239.3_Missense_Mutation_p.A63T|TUBD1_ENST00000325752.3_Missense_Mutation_p.A63T|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000591611.1_5'UTR|TUBD1_ENST00000346141.6_Intron	NM_001193609.1|NM_001193612.1	NP_001180538.1|NP_001180541.1	Q9UJT1	TBD_HUMAN	tubulin, delta 1	63					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			ACAAGAACAGCCCGGGCAATT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,,	0,4406		0,0,2203	71	68	69		187,187,187,187,,	6.1	1	17		69	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,utr-5,intron	TUBD1	NM_001193609.1,NM_001193610.1,NM_001193611.1,NM_016261.3,NM_001193612.1,NM_001193613.1	58,58,58,58,,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,,	63/399,63/397,63/352,63/454,,	57963577	1,13005	2203	4300	6503	SO:0001583	missense			AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16					51174	51174		Tubulins	16811	protein-coding gene	gene with protein product		607344			NA	10620804	Standard	NM_016261	NM_016261	NA	Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000340993.6:c.187G>A	17.37:g.57963577C>T	ENSP00000342399:p.Ala63Thr	NA	D3DU02|Q9BWG9|Q9H7Z8	37	CCDS54153.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970893	0.92919	0.0	1.16E-4	ENSG00000108423	ENST00000325752;ENST00000340993;ENST00000394239;ENST00000376094	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	6.08	6.08	0.98989	Tubulin/FtsZ, GTPase domain (4);	0.047647	0.85682	D	0.000000	D	0.86818	0.6024	M	0.84585	2.705	0.58432	D	0.999999	D;D;D;D	0.65815	0.995;0.984;0.987;0.99	D;P;P;D	0.73380	0.98;0.85;0.901;0.94	D	0.87265	0.2282	10	0.87932	D	0	-20.964	20.6634	0.99662	0.0:1.0:0.0:0.0	.	63;63;63;63	E9PCA7;E9PCQ8;Q9UJT1-2;Q9UJT1	.;.;.;TBD_HUMAN	T	63	ENSP00000320797:A63T;ENSP00000342399:A63T;ENSP00000377785:A63T;ENSP00000365262:A63T	ENSP00000320797:A63T	A	-	1	0	TUBD1	55318359	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.416000	0.59815	2.894000	0.99253	0.655000	0.94253	GCT	TUBD1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448812.1		-	ENST00000340993.6	Missense_Mutation	SNP	17 : 57963577 - 57963577 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	29
TMEM8A	58986	broad.mit.edu	37	16	426714	426714	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:426714G>A	ENST00000431232.2	-	5	894	c.734C>T	c.(733-735)cCg>cTg	p.P245L	TMEM8A_ENST00000250930.3_Missense_Mutation_p.P52L	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	245					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						CAGGGTGACCGGGCCCACGGT	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	25	24			NA	NA	16		NA											NA				426714		2197	4294	6491	SO:0001583	missense			AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925	58986	58986			17205	protein-coding gene	gene with protein product			transmembrane protein 6, transmembrane protein 8 (five membrane-spanning domains)	TMEM6, TMEM8	NA	11006113	Standard	NM_021259	NM_021259	NA	Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.734C>T	16.37:g.426714G>A	ENSP00000401338:p.Pro245Leu	NA	D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	37	CCDS10407.1	.	.	.	.	.	.	.	.	.	.	G	9.023	0.985263	0.18889	.	.	ENSG00000129925	ENST00000431232;ENST00000250930	T;T	0.31769	1.92;1.48	4.1	-1.8	0.07907	.	1.025100	0.07779	N	0.953031	T	0.21468	0.0517	L	0.38175	1.15	0.09310	N	1	B	0.16802	0.019	B	0.11329	0.006	T	0.28522	-1.0041	10	0.40728	T	0.16	-16.4183	6.0529	0.19794	0.3762:0.1241:0.4997:0.0	.	245	Q9HCN3	TMM8A_HUMAN	L	245;52	ENSP00000401338:P245L;ENSP00000250930:P52L	ENSP00000250930:P52L	P	-	2	0	TMEM8A	366715	0.767000	0.28508	0.016000	0.15963	0.693000	0.40251	0.980000	0.29513	-0.539000	0.06273	0.305000	0.20034	CCG	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109257.2		-	ENST00000431232.2	Missense_Mutation	SNP	16 : 426714 - 426714 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	202	26
RC3H2	54542	broad.mit.edu	37	9	125659639	125659639	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125659639A>G	ENST00000373670.1	-	1	750	c.150T>C	c.(148-150)tgT>tgC	p.C50C	RC3H2_ENST00000357244.2_Silent_p.C50C|RC3H2_ENST00000471874.2_Silent_p.C50C|RC3H2_ENST00000335387.5_Silent_p.C50C|RC3H2_ENST00000478216.1_Intron|RC3H2_ENST00000373665.2_Silent_p.C50C|RC3H2_ENST00000423239.2_Silent_p.C50C			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	50						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GGTCAAAAGGACAAGCTTTTC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	102	104			NA	NA	9		NA											NA				125659639		1917	4129	6046	SO:0001819	synonymous_variant			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586	54542	54542		RING-type (C3HC4) zinc fingers, Zinc fingers, CCCH-type domain containing	21461	protein-coding gene	gene with protein product		615231	membrane associated DNA binding protein, ring finger and CCCH-type zinc finger domains 2	MNAB	NA	10938276	Standard	NM_018835	NM_001100588	NA	Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.150T>C	9.37:g.125659639A>G		NA	Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	37	CCDS43874.1																																																																																			RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053966.1		-	ENST00000373670.1	Silent	SNP	9 : 125659639 - 125659639 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	261	29
HRNR	388697	broad.mit.edu	37	1	152192138	152192138	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152192138G>T	ENST00000368801.2	-	3	2042	c.1967C>A	c.(1966-1968)tCt>tAt	p.S656Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	656					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)			AGACTGGCCAGATCCAGAGCC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	173	169			NA	NA	1		NA											NA				152192138		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.1967C>A	1.37:g.152192138G>T	ENSP00000357791:p.Ser656Tyr	NA	Q5U1F4	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	6.898	0.535292	0.13188	.	.	ENSG00000197915	ENST00000368801	T	0.05447	3.44	4.05	3.1	0.35709	.	.	.	.	.	T	0.06005	0.0156	L	0.34521	1.04	0.09310	N	1	D	0.89917	1.0	D	0.65987	0.94	T	0.28964	-1.0027	9	0.56958	D	0.05	.	9.3797	0.38306	0.0:0.219:0.781:0.0	.	656	Q86YZ3	HORN_HUMAN	Y	656	ENSP00000357791:S656Y	ENSP00000357791:S656Y	S	-	2	0	HRNR	150458762	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.274000	0.18680	0.864000	0.35578	0.644000	0.83932	TCT	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034016.1		-	ENST00000368801.2	Missense_Mutation	SNP	1 : 152192138 - 152192138 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1587	214
GPC5	2262	broad.mit.edu	37	13	93518645	93518645	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:93518645A>T	ENST00000377067.3	+	8	2044	c.1672A>T	c.(1672-1674)Aca>Tca	p.T558S		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	558						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TGAATCTATGACATTCACTCT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													383	285	318			NA	NA	13		NA											NA				93518645		2203	4300	6503	SO:0001583	missense			AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399	2262	2262		Proteoglycans / Cell Surface : Glypicans	4453	protein-coding gene	gene with protein product	glypican proteoglycan 5	602446			NA	9070915, 20304703, 19556317, 15057823	Standard	NM_004466	NM_004466	NA	Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1672A>T	13.37:g.93518645A>T	ENSP00000366267:p.Thr558Ser	NA	B2R726|O60436|Q9BX27	37	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	A	8.139	0.784820	0.16189	.	.	ENSG00000179399	ENST00000377067	T	0.51325	0.71	5.81	-5.13	0.02884	.	0.874487	0.09523	N	0.790567	T	0.21387	0.0515	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.18871	0.023	T	0.20638	-1.0269	10	0.24483	T	0.36	-0.0387	7.112	0.25396	0.4492:0.0:0.436:0.1147	.	558	P78333	GPC5_HUMAN	S	558	ENSP00000366267:T558S	ENSP00000366267:T558S	T	+	1	0	GPC5	92316646	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.050000	0.14120	-1.190000	0.02698	-0.417000	0.06048	ACA	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045454.1		+	ENST00000377067.3	Missense_Mutation	SNP	13 : 93518645 - 93518645 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	554	73
ABCA12	26154	broad.mit.edu	37	2	215847042	215847042	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215847042A>G	ENST00000272895.7	-	30	4667	c.4448T>C	c.(4447-4449)aTg>aCg	p.M1483T	ABCA12_ENST00000389661.4_Missense_Mutation_p.M1165T	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1483	ABC transporter 1.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTCCTCTTCATGCCTCCTGA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(66;664 1488 5121 34295)							NA				0													169	154	159			NA	NA	2		NA											NA				215847042		2203	4300	6503	SO:0001583	missense			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452	26154	26154		ATP binding cassette transporters / subfamily A	14637	protein-coding gene	gene with protein product		607800	ichthyosis congenita II, lamellar ichthyosis B	ICR2B	NA	11435397, 12915478, 8845852, 10094194	Standard	NM_173076	NM_015657	NA	Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.4448T>C	2.37:g.215847042A>G	ENSP00000272895:p.Met1483Thr	NA	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	A	16.54	3.151331	0.57151	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.93811	-3.29;-3.29	5.65	5.65	0.86999	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.066415	0.64402	D	0.000004	D	0.96125	0.8737	M	0.79123	2.44	0.80722	D	1	D;B	0.61697	0.99;0.2	P;B	0.61940	0.896;0.142	D	0.96337	0.9248	10	0.62326	D	0.03	.	16.0399	0.80667	1.0:0.0:0.0:0.0	.	1483;1165	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	T	1483;1165	ENSP00000272895:M1483T;ENSP00000374312:M1165T	ENSP00000272895:M1483T	M	-	2	0	ABCA12	215555287	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.139000	0.94554	2.371000	0.80710	0.533000	0.62120	ATG	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337111.1		-	ENST00000272895.7	Missense_Mutation	SNP	2 : 215847042 - 215847042 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	616	104
OR5M11	219487	broad.mit.edu	37	11	56310287	56310287	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56310287G>A	ENST00000528616.2	-	1	470	c.447C>T	c.(445-447)gtC>gtT	p.V149V		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						AGAAGCCATAGACATAGGGAA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	46	45			NA	NA	11		NA											NA				56310287		2114	4256	6370	SO:0001819	synonymous_variant			AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223	219487	219487		GPCR / Class A : Olfactory receptors	15291	protein-coding gene	gene with protein product					NA		Standard	NM_001005245	NM_001005245	NA	Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.447C>T	11.37:g.56310287G>A		NA	B2RNL5|B2RNL7	37	CCDS53629.1																																																																																			OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391608.1		-	ENST00000528616.2	Silent	SNP	11 : 56310287 - 56310287 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	147	25
DBR1	51163	broad.mit.edu	37	3	137893465	137893465	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:137893465T>C	ENST00000260803.4	-	1	326	c.173A>G	c.(172-174)tAt>tGt	p.Y58C	DBR1_ENST00000463982.2_5'UTR|DBR1_ENST00000505015.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	58						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CATGTGACGATACTTGGGCGG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	25	27			NA	NA	3		NA											NA				137893465		2202	4298	6500	SO:0001583	missense			AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231	51163	51163			15594	protein-coding gene	gene with protein product		607024	debranching enzyme (S. Cerevisiae) homolog 1, debranching enzyme homolog 1 (S. cerevisiae)		NA	10982890	Standard		NM_016216	NA	Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.173A>G	3.37:g.137893465T>C	ENSP00000260803:p.Tyr58Cys	NA	Q96GH0|Q9NXQ6	37	CCDS33863.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.837797	0.91117	.	.	ENSG00000138231	ENST00000260803	T	0.34667	1.35	5.26	5.26	0.73747	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.71787	0.3381	H	0.97186	3.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81529	-0.0891	10	0.87932	D	0	-14.0475	13.1814	0.59657	0.0:0.0:0.0:1.0	.	58	Q9UK59	DBR1_HUMAN	C	58	ENSP00000260803:Y58C	ENSP00000260803:Y58C	Y	-	2	0	DBR1	139376155	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.523000	0.81856	2.213000	0.71641	0.455000	0.32223	TAT	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357585.1		-	ENST00000260803.4	Missense_Mutation	SNP	3 : 137893465 - 137893465 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	105	24
DIAPH3	81624	broad.mit.edu	37	13	60348321	60348321	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:60348321A>C	ENST00000400324.4	-	27	3540		c.e27+1		DIAPH3_ENST00000267215.4_Silent_p.G1107G|DIAPH3_ENST00000377908.2_Splice_Site|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400330.1_Splice_Site|DIAPH3_ENST00000400320.1_Splice_Site|DIAPH3_ENST00000400319.1_Splice_Site	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	NA					actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		ACGGTTTATTACCATGGTTAC	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	73	73			NA	NA	13		NA											NA				60348321		1816	4082	5898	SO:0001630	splice_region_variant			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734	81624	81624			15480	protein-coding gene	gene with protein product		614567	diaphanous (Drosophila, homolog) 3, auditory neuropathy, autosomal dominant 1, diaphanous homolog 3 (Drosophila)	AUNA1	NA	14767582, 20624953	Standard	NM_001042517	NM_030932	NA	Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.3319+1T>G	13.37:g.60348321A>C		NA	A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	37	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	A	19.58	3.855191	0.71719	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7538	0.78009	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DIAPH3	59246322	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.778000	0.75043	2.137000	0.66172	0.533000	0.62120	.	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045166.3	Intron	-	ENST00000400324.4	Splice_Site	SNP	13 : 60348321 - 60348321 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	341	46
E2F7	144455	broad.mit.edu	37	12	77438548	77438548	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:77438548G>A	ENST00000322886.7	-	6	1092	c.857C>T	c.(856-858)tCt>tTt	p.S286F	E2F7_ENST00000416496.2_Missense_Mutation_p.S286F	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	286					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						AATTCTCAGAGACTTGTCTTT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	119	124			NA	NA	12		NA											NA				77438548		2203	4300	6503	SO:0001583	missense			BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891	144455	144455			23820	protein-coding gene	gene with protein product		612046			NA	12893818	Standard	XM_084871	NM_203394	NA	Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.857C>T	12.37:g.77438548G>A	ENSP00000323246:p.Ser286Phe	NA	A6NC74|B2RMR7|B3KUP8	37	CCDS9016.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.077982|5.077982	0.94000|0.94000	.|.	.|.	ENSG00000165891|ENSG00000165891	ENST00000551058|ENST00000322886;ENST00000416496;ENST00000550669	.|T;T;T	.|0.41400	.|1.2;1.0;1.01	6.17|6.17	6.17|6.17	0.99709|0.99709	.|Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77054|0.77054	0.4074|0.4074	H|H	0.95151|0.95151	3.63|3.63	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.82579|0.82579	-0.0387|-0.0387	5|10	.|0.87932	.|D	.|0	-18.3452|-18.3452	19.8676|19.8676	0.96824|0.96824	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|286	.|Q96AV8	.|E2F7_HUMAN	F|F	164|286	.|ENSP00000323246:S286F;ENSP00000393639:S286F;ENSP00000448245:S286F	.|ENSP00000323246:S286F	L|S	-|-	1|2	0|0	E2F7|E2F7	75962679|75962679	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.869000|9.869000	0.99810|0.99810	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CTC|TCT	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406716.1		-	ENST00000322886.7	Missense_Mutation	SNP	12 : 77438548 - 77438548 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	495	89
PIP5K1C	23396	broad.mit.edu	37	19	3644083	3644083	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3644083A>G	ENST00000589578.1	-	12	1510		c.e12+1		PIP5K1C_ENST00000537021.1_Splice_Site|PIP5K1C_ENST00000539785.1_Splice_Site|PIP5K1C_ENST00000335312.3_Splice_Site			O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	NA					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		TCTGCCCCTCACCTTCGTCCT	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(135;99 1744 12852 27186 39851)							NA				0													33	39	37			NA	NA	19		NA											NA				3644083		2193	4285	6478	SO:0001630	splice_region_variant			AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111	23396	23396			8996	protein-coding gene	gene with protein product		606102			NA	9535851	Standard	NM_012398	NM_001195733	NA	Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000589578.1:c.1510+1T>C	19.37:g.3644083A>G		NA	Q7LE07	37		.	.	.	.	.	.	.	.	.	.	A	10.60	1.395140	0.25205	.	.	ENSG00000186111	ENST00000335312;ENST00000539785;ENST00000537021	.	.	.	4.66	3.65	0.41850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8133	0.46559	0.8408:0.1592:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PIP5K1C	3595083	1.000000	0.71417	0.856000	0.33681	0.013000	0.08279	6.952000	0.75989	0.644000	0.30656	-0.513000	0.04457	.	PIP5K1C-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000453628.1	Intron	-	ENST00000589578.1	Splice_Site	SNP	19 : 3644083 - 3644083 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	424	85
FOXF1	2294	broad.mit.edu	37	16	86545078	86545078	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:86545078C>T	ENST00000262426.4	+	1	946	c.903C>T	c.(901-903)tcC>tcT	p.S301S		NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	301					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel 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 factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						ACCCCCTGTCCGGCAGCCTCT	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													5	6	6			NA	NA	16		NA											NA				86545078		2037	4050	6087	SO:0001819	synonymous_variant			U13219	CCDS10957.2	16q24	2008-02-05			ENSG00000103241	ENSG00000103241	2294	2294		Forkhead boxes	3809	protein-coding gene	gene with protein product		601089		FKHL5	NA	8825632, 7957066	Standard	NM_001451	NM_001451	NA	Approved	FREAC1	uc002fjl.3	Q12946	OTTHUMG00000137651	ENST00000262426.4:c.903C>T	16.37:g.86545078C>T		NA	B2RAF4|Q5FWE5	37	CCDS10957.2																																																																																			FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269103.2		+	ENST00000262426.4	Silent	SNP	16 : 86545078 - 86545078 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	94	24
LRRC37A3	374819	broad.mit.edu	37	17	62856945	62856945	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62856945G>A	ENST00000584306.1	-	11	3849	c.3319C>T	c.(3319-3321)Cag>Tag	p.Q1107*	LRRC37A3_ENST00000319651.5_Nonsense_Mutation_p.Q1107*|LRRC37A3_ENST00000400877.3_Nonsense_Mutation_p.Q145*|LRRC37A3_ENST00000334962.5_Nonsense_Mutation_p.Q84*|LRRC37A3_ENST00000339474.5_Nonsense_Mutation_p.Q225*	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1107						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GTGTCTAGCTGCTCACTCCCA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													277	280	279			NA	NA	17		NA											NA				62856945		2203	4300	6503	SO:0001587	stop_gained			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809	374819	374819			32427	protein-coding gene	gene with protein product					NA		Standard	NM_199340	NM_199340	NA	Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.3319C>T	17.37:g.62856945G>A	ENSP00000464535:p.Gln1107*	NA	Q49A01|Q49A80|Q8NB33	37	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	.	40	8.010885	0.98607	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	.	.	.	2.46	0.0936	0.14477	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	2.8545	0.05568	0.1715:0.0:0.544:0.2844	.	.	.	.	X	188;145;84;1107	.	ENSP00000325713:Q1107X	Q	-	1	0	LRRC37A3	60287407	0.008000	0.16893	0.003000	0.11579	0.190000	0.23558	0.579000	0.23788	-0.078000	0.12730	0.298000	0.19748	CAG	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445377.1		-	ENST00000584306.1	Nonsense_Mutation	SNP	17 : 62856945 - 62856945 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1826	279
NSUN7	79730	broad.mit.edu	37	4	40776916	40776916	+	Silent	SNP	A	A	G	rs145033684		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40776916A>G	ENST00000316607.5	+	6	1241	c.774A>G	c.(772-774)aaA>aaG	p.K258K	NSUN7_ENST00000463952.1_3'UTR|NSUN7_ENST00000381782.2_Silent_p.K258K					NOP2/Sun domain family, member 7	NA										NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CTCATCTTAAAAATGATCTTA	0.284		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	42	41			NA	NA	4		NA											NA				40776916		2189	4268	6457	SO:0001819	synonymous_variant			BC036568	CCDS3461.2	4p14	2013-10-11	2009-11-23		ENSG00000179299	ENSG00000179299	79730	79730		NOP2/Sun domain containing	25857	protein-coding gene	gene with protein product			NOL1/NOP2/Sun domain family, member 7		NA	17442852	Standard	NM_024677	NM_024677	NA	Approved	FLJ14001	uc003gvj.4	Q8NE18	OTTHUMG00000128597	ENST00000316607.5:c.774A>G	4.37:g.40776916A>G		NA		37																																																																																				NSUN7-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000250455.2		+	ENST00000316607.5	Silent	SNP	4 : 40776916 - 40776916 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	186	37
USH2A	7399	broad.mit.edu	37	1	216390747	216390747	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216390747G>A	ENST00000307340.3	-	15	3525	c.3139C>T	c.(3139-3141)Cta>Tta	p.L1047L	USH2A_ENST00000366943.2_Silent_p.L1047L|USH2A_ENST00000366942.3_Silent_p.L1047L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1047	Laminin EGF-like 10.		L -> V.		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAACCCAATAGATTGTTGACA	0.448		NA								HNSCC(13;0.011)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	89	95			NA	NA	1		NA											NA				216390747		2203	4300	6503	SO:0001819	synonymous_variant			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781	7399	7399		Fibronectin type III domain containing	12601	protein-coding gene	gene with protein product	usherin	608400		USH2	NA	9624053, 10729113	Standard	NM_007123	NM_007123	NA	Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3139C>T	1.37:g.216390747G>A		NA	Q5VVM9|Q6S362|Q9NS27	37	CCDS31025.1																																																																																			USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128138.1		-	ENST00000307340.3	Silent	SNP	1 : 216390747 - 216390747 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	82
HIVEP3	59269	broad.mit.edu	37	1	42045931	42045931	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:42045931G>T	ENST00000372584.1	-	3	5552	c.4538C>A	c.(4537-4539)cCt>cAt	p.P1513H	HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1513H|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1513H|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P1513H	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1513					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGGGAGGGGAGGAATTTCCTT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	99	95			NA	NA	1		NA											NA				42045931		2203	4300	6503	SO:0001583	missense			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124	59269	59269		Zinc fingers, C2H2-type	13561	protein-coding gene	gene with protein product	kappabinding protein-1	606649	human immunodeficiency virus type I enhancer-binding protein 3		NA	11161801	Standard	NM_024503	NR_038260	NA	Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372584.1:c.4538C>A	1.37:g.42045931G>T	ENSP00000361665:p.Pro1513His	NA	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	37	CCDS44124.1	.	.	.	.	.	.	.	.	.	.	G	0.107	-1.143199	0.01728	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.07327	3.21;3.2;3.2;3.21	5.37	3.5	0.40072	.	0.685951	0.13398	N	0.390834	T	0.08133	0.0203	L	0.47716	1.5	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.08055	0.003;0.001	T	0.29243	-1.0018	10	0.56958	D	0.05	-4.7047	4.9459	0.13989	0.0727:0.1269:0.5488:0.2516	.	1513;1513	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	H	1513	ENSP00000361665:P1513H;ENSP00000361664:P1513H;ENSP00000247584:P1513H;ENSP00000410828:P1513H	ENSP00000247584:P1513H	P	-	2	0	HIVEP3	41818518	0.993000	0.37304	0.007000	0.13788	0.263000	0.26337	1.773000	0.38563	0.830000	0.34757	-0.137000	0.14449	CCT	HIVEP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000016977.1		-	ENST00000372584.1	Missense_Mutation	SNP	1 : 42045931 - 42045931 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	284	67
CDCA4	55038	broad.mit.edu	37	14	105477705	105477705	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105477705A>G	ENST00000336219.3	-	2	717	c.562T>C	c.(562-564)Tac>Cac	p.Y188H	CDCA4_ENST00000392590.3_Missense_Mutation_p.Y188H	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	188						nucleus				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		AGGTCGTAGTAGGGGCTGTCC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	64	66			NA	NA	14		NA											NA				105477705		2203	4300	6503	SO:0001583	missense			BG354577	CCDS9996.1	14q32.33	2014-02-14			ENSG00000170779	ENSG00000170779	55038	55038			14625	protein-coding gene	gene with protein product	hematopoietic progenitor protein	612270			NA	12188893	Standard	NM_145701	NM_145701	NA	Approved	FLJ20764, Hepp	uc001yqb.2	Q9BXL8	OTTHUMG00000170767	ENST00000336219.3:c.562T>C	14.37:g.105477705A>G	ENSP00000337226:p.Tyr188His	NA	Q8TB18|Q9NWK7	37	CCDS9996.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.739827	0.49045	.	.	ENSG00000170779	ENST00000336219;ENST00000392590	T;T	0.45276	0.9;0.9	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.62109	0.2401	M	0.70275	2.135	0.54753	D	0.999981	D	0.89917	1.0	D	0.87578	0.998	T	0.63743	-0.6568	10	0.45353	T	0.12	-0.0155	13.5504	0.61728	1.0:0.0:0.0:0.0	.	188	Q9BXL8	CDCA4_HUMAN	H	188	ENSP00000337226:Y188H;ENSP00000376369:Y188H	ENSP00000337226:Y188H	Y	-	1	0	CDCA4	104548750	1.000000	0.71417	0.994000	0.49952	0.088000	0.18126	5.796000	0.69080	1.856000	0.53863	0.529000	0.55759	TAC	CDCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410311.1		-	ENST00000336219.3	Missense_Mutation	SNP	14 : 105477705 - 105477705 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	357	63
SNX13	23161	broad.mit.edu	37	7	17874457	17874457	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:17874457A>G	ENST00000409389.1	-	14	1563	c.1391T>C	c.(1390-1392)tTa>tCa	p.L464S	SNX13_ENST00000428135.3_Missense_Mutation_p.L464S			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	464	RGS.				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TTTTGCTACTAAATAGTCATC	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	51	51			NA	NA	7		NA											NA				17874457		1807	4054	5861	SO:0001583	missense			AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189	23161	23161		Sorting nexins	21335	protein-coding gene	gene with protein product		606589			NA	11485546, 11729322	Standard	NM_015132	NM_015132	NA	Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.1391T>C	7.37:g.17874457A>G	ENSP00000386705:p.Leu464Ser	NA	B2RCI9|O94821|Q8WVZ2|Q8WXH8	37		.	.	.	.	.	.	.	.	.	.	A	13.31	2.200319	0.38905	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.02446	4.29;4.29	5.04	5.04	0.67666	.	0.143577	0.49305	D	0.000153	T	0.02767	0.0083	N	0.11427	0.14	0.80722	D	1	B;P;P	0.41498	0.247;0.752;0.576	B;B;B	0.42625	0.098;0.393;0.119	T	0.65672	-0.6111	10	0.42905	T	0.14	-7.5475	15.076	0.72077	1.0:0.0:0.0:0.0	.	261;464;464	B3KN60;B8ZZT9;Q9Y5W8-2	.;.;.	S	464;464;512	ENSP00000386705:L464S;ENSP00000398789:L464S	ENSP00000242044:L512S	L	-	2	0	SNX13	17840982	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.584000	0.60971	2.026000	0.59711	0.402000	0.26972	TTA	SNX13-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000327608.1		-	ENST00000409389.1	Missense_Mutation	SNP	7 : 17874457 - 17874457 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	163	17
MYO15A	51168	broad.mit.edu	37	17	18075471	18075471	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18075471G>A	ENST00000418233.3	+	22	2631	c.2009G>A	c.(2008-2010)gGc>gAc	p.G670D	MYO15A_ENST00000451725.2_Splice_Site_p.A200T|MYO15A_ENST00000205890.5_Splice_Site_p.G3406D			Q9UKN7	MYO15_HUMAN	myosin XVA	3406	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCCTGCCCAGGCCTCCTCAGC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	99	96			NA	NA	17		NA											NA				18075471		2114	4229	6343	SO:0001630	splice_region_variant			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536	51168	51168		Myosins / Myosin superfamily : Class XV	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15	NA	9603736	Standard	NM_016239	NM_016239	NA	Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000418233.3:c.2009-1G>A	17.37:g.18075471G>A		NA		37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.54|15.54	2.863609|2.863609	0.51482|0.51482	.|.	.|.	ENSG00000091536|ENSG00000091536	ENST00000451725|ENST00000205890;ENST00000418233;ENST00000445289	D|T	0.98105|0.77098	-4.72|-1.07	5.81|5.81	5.81|5.81	0.92471|0.92471	.|Band 4.1 domain (1);FERM central domain (2);FERM domain (1);	.|.	.|.	.|.	.|.	D|D	0.85305|0.85305	0.5666|0.5666	L|L	0.48174|0.48174	1.505|1.505	0.50171|0.50171	D|D	0.999855|0.999855	B|D;D;P;D	0.32245|0.89917	0.361|1.0;1.0;0.952;1.0	B|D;D;P;D	0.32864|0.97110	0.154|0.995;0.995;0.876;1.0	T|T	0.82983|0.82983	-0.0186|-0.0186	8|8	.|.	.|.	.|.	.|.	19.6732|19.6732	0.95918|0.95918	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	200|395;101;670;3406	B4DQJ3|B4DLV9;B4DMU9;B4DFC7;Q9UKN7	.|.;.;.;MYO15_HUMAN	T|D	200|3406;395;101	ENSP00000409098:A200T|ENSP00000205890:G3406D	.|.	A|G	+|+	1|2	0|0	MYO15A|MYO15A	18016196|18016196	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.153000|0.153000	0.21895|0.21895	9.647000|9.647000	0.98478|0.98478	2.745000|2.745000	0.94114|0.94114	0.655000|0.655000	0.94253|0.94253	GCC|GGC	MYO15A-009	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000446125.1	Missense_Mutation	+	ENST00000418233.3	Splice_Site	SNP	17 : 18075471 - 18075471 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	464	87
ZHX2	22882	broad.mit.edu	37	8	123965081	123965081	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:123965081G>A	ENST00000314393.4	+	3	2166	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	444	Required for interaction with NFYA.|Required for nuclear localization.|Required for repressor activity.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GCCAGTGACCGCAAGAAGACA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(94;1056 1388 11767 13799 49639)							NA				0													96	113	107			NA	NA	8		NA											NA				123965081		2203	4300	6503	SO:0001583	missense			AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764	22882	22882		Zinc fingers, C2H2-type, Homeoboxes / ZF class	18513	protein-coding gene	gene with protein product		609185	zinc-fingers and homeoboxes 2		NA	10048485, 12741956	Standard	NM_014943	XM_005250837	NA	Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.1331G>A	8.37:g.123965081G>A	ENSP00000314709:p.Arg444His	NA		37	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456528	0.63401	.	.	ENSG00000178764	ENST00000314393	D	0.91792	-2.91	5.85	5.85	0.93711	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.227219	0.45606	D	0.000350	D	0.93858	0.8035	L	0.40543	1.245	0.52099	D	0.999942	D	0.89917	1.0	D	0.73380	0.98	D	0.90635	0.4570	10	0.16896	T	0.51	-19.237	20.1559	0.98114	0.0:0.0:1.0:0.0	.	444	Q9Y6X8	ZHX2_HUMAN	H	444	ENSP00000314709:R444H	ENSP00000314709:R444H	R	+	2	0	ZHX2	124034262	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.241000	0.78201	2.779000	0.95612	0.491000	0.48974	CGC	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381709.1		+	ENST00000314393.4	Missense_Mutation	SNP	8 : 123965081 - 123965081 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	47
BUB1B	701	broad.mit.edu	37	15	40494850	40494850	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40494850C>A	ENST00000287598.6	+	14	1884	c.1689C>A	c.(1687-1689)acC>acA	p.T563T	BUB1B_ENST00000412359.3_Silent_p.T577T	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	563					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TTCTCAAAACCTCAGAAAGCA	0.403		NA	Mis, N, F, S			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)		M	0													137	136	136			NA	NA	15		NA											NA				40494850		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970	701	701			1149	protein-coding gene	gene with protein product		602860	budding uninhibited by benzimidazoles 1 (yeast homolog), beta, budding uninhibited by benzimidazoles 1 homolog beta (yeast)		NA	9889005	Standard		NM_001211	NA	Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.1689C>A	15.37:g.40494850C>A		NA	B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	37	CCDS10053.1																																																																																			BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252122.4		+	ENST00000287598.6	Silent	SNP	15 : 40494850 - 40494850 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	754	130
FRYL	285527	broad.mit.edu	37	4	48578084	48578084	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48578084G>A	ENST00000503238.1	-	21	2683	c.2684C>T	c.(2683-2685)gCg>gTg	p.A895V	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.A895V|FRYL_ENST00000358350.4_Missense_Mutation_p.A895V|FRYL_ENST00000507711.1_Missense_Mutation_p.A895V			O94915	FRYL_HUMAN	FRY-like	895					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TGGGGTAGACGCCAGCGTCTC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA	1,3805		0,1,1902	131	132	132		2684	5.3	1	4		132	0,8276		0,0,4138	no	missense	FRYL	NM_015030.1	64	0,1,6040	AA,AG,GG	NA	0.0,0.0263,0.0083	probably-damaging	895/3014	48578084	1,12081	1903	4138	6041	SO:0001583	missense			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539	285527	285527			29127	protein-coding gene	gene with protein product			KIAA0826, furry homolog-like (Drosophila)	KIAA0826	NA	10048485	Standard		NM_015030	NA	Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.2684C>T	4.37:g.48578084G>A	ENSP00000426064:p.Ala895Val	NA	O95640|Q8WTZ5|Q9NT40	37	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967701	0.74131	2.63E-4	0.0	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.26	5.26	0.73747	.	0.000000	0.85682	U	0.000000	T	0.68439	0.3001	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.999;0.979	D;B	0.65874	0.939;0.359	T	0.70479	-0.4860	10	0.62326	D	0.03	.	18.8613	0.92273	0.0:0.0:1.0:0.0	.	895;895	F2Z2S2;O94915	.;FRYL_HUMAN	V	895	ENSP00000426064:A895V;ENSP00000351113:A895V;ENSP00000441114:A895V;ENSP00000421584:A895V	ENSP00000351113:A895V	A	-	2	0	FRYL	48272841	1.000000	0.71417	1.000000	0.80357	0.097000	0.18754	7.623000	0.83113	2.430000	0.82344	0.467000	0.42956	GCG	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369265.2		-	ENST00000503238.1	Missense_Mutation	SNP	4 : 48578084 - 48578084 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	787	130
CCDC60	160777	broad.mit.edu	37	12	119957964	119957964	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119957964C>T	ENST00000327554.2	+	9	1472	c.1007C>T	c.(1006-1008)gCt>gTt	p.A336V	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	336										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AGTAATTCTGCTTATAAGGAA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	165	166			NA	NA	12		NA											NA				119957964		2203	4300	6503	SO:0001583	missense			BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273	160777	160777			28610	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_178499	NM_178499	NA	Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.1007C>T	12.37:g.119957964C>T	ENSP00000333374:p.Ala336Val	NA		37	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	C	3.165	-0.171345	0.06421	.	.	ENSG00000183273	ENST00000327554	T	0.22743	1.94	3.75	-0.352	0.12598	.	1.142040	0.06595	N	0.752738	T	0.15739	0.0379	L	0.44542	1.39	0.09310	N	1	B	0.25904	0.137	B	0.24269	0.052	T	0.33420	-0.9869	9	.	.	.	-0.9919	3.5628	0.07889	0.0:0.4639:0.1939:0.3421	.	336	Q8IWA6	CCD60_HUMAN	V	336	ENSP00000333374:A336V	.	A	+	2	0	CCDC60	118442347	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.191000	0.09601	-0.063000	0.13065	-0.150000	0.13652	GCT	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401680.1		+	ENST00000327554.2	Missense_Mutation	SNP	12 : 119957964 - 119957964 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1037	85
C7orf33	202865	broad.mit.edu	37	7	148311388	148311388	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148311388C>T	ENST00000307003.2	+	2	820	c.459C>T	c.(457-459)aaC>aaT	p.N153N		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	153										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CATACCTAAACGTAAGCTCCG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	98	105			NA	NA	7		NA											NA				148311388		2203	4300	6503	SO:0001630	splice_region_variant			BC021251	CCDS5890.1	7q36.1	2011-11-24			ENSG00000170279	ENSG00000170279	202865	202865			21724	protein-coding gene	gene with protein product					NA		Standard	NM_145304	NM_145304	NA	Approved		uc003wew.3	Q8WU49	OTTHUMG00000152756	ENST00000307003.2:c.459+1C>T	7.37:g.148311388C>T		NA		37	CCDS5890.1																																																																																			C7orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327684.1	Silent	+	ENST00000307003.2	Splice_Site	SNP	7 : 148311388 - 148311388 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	429	31
EP300	2033	broad.mit.edu	37	22	41572357	41572357	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41572357C>T	ENST00000263253.7	+	30	6105	c.4886C>T	c.(4885-4887)gCg>gTg	p.A1629V	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1629	Binding region for E1A adenovirus.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.A1629V(2)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGTCGGGATGCGTTTCTCACG	0.582		NA	T,  N, F, Mis, O	MLL, RUNXBP2	colorectal, breast, pancreatic, AML, ALL, DLBCL				Rubinstein-Taybi syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		L, E	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)											119	100	106			NA	NA	22		NA											NA				41572357		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393	2033	2033		Chromatin-modifying enzymes / K-acetyltransferases	3373	protein-coding gene	gene with protein product	histone acetyltransferase p300	602700			NA	7523245	Standard	NM_001429	NM_001429	NA	Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4886C>T	22.37:g.41572357C>T	ENSP00000263253:p.Ala1629Val	NA	B1AKC2	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.602581	0.66445	.	.	ENSG00000100393	ENST00000263253	D	0.86366	-2.11	5.03	5.03	0.67393	.	0.000000	0.48286	D	0.000193	D	0.94801	0.8321	M	0.90252	3.1	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	D	0.95684	0.8734	10	0.87932	D	0	-8.2919	18.7274	0.91718	0.0:1.0:0.0:0.0	.	1629	Q09472	EP300_HUMAN	V	1629	ENSP00000263253:A1629V	ENSP00000263253:A1629V	A	+	2	0	EP300	39902303	1.000000	0.71417	0.990000	0.47175	0.701000	0.40568	7.818000	0.86416	2.500000	0.84329	0.650000	0.86243	GCG	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320600.1		+	ENST00000263253.7	Missense_Mutation	SNP	22 : 41572357 - 41572357 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	591	117
IL10RB	3588	broad.mit.edu	37	21	34652146	34652146	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34652146G>A	ENST00000290200.2	+	4	529	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	AP000295.9_ENST00000433395.2_Silent_p.T268T	NM_000628.4	NP_000619.3			interleukin 10 receptor, beta	NA										endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						GAATGAATACGAAACTTGGAC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(67;315 1275 21667 21943 44564)							NA				0													202	195	197			NA	NA	21		NA											NA				34652146		2203	4300	6503	SO:0001583	missense			U08988	CCDS13623.1	21q22.11	2014-09-17			ENSG00000243646	ENSG00000243646	3588	3588		Interleukins and interleukin receptors, CD molecules	5965	protein-coding gene	gene with protein product		123889		CRFB4, D21S58, D21S66	NA	8314576, 9312047	Standard		NM_000628	NA	Approved	CRF2-4, CDW210B, IL-10R2		Q08334	OTTHUMG00000065128	ENST00000290200.2:c.421G>A	21.37:g.34652146G>A	ENSP00000290200:p.Glu141Lys	NA		37	CCDS13623.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.991208	0.35131	.	.	ENSG00000243646	ENST00000290200;ENST00000539894	T	0.28454	1.61	5.75	2.9	0.33743	Fibronectin, type III (2);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	0.717553	0.14025	N	0.346532	T	0.31104	0.0786	M	0.82517	2.595	0.09310	N	1	D;P;D;D	0.56035	0.974;0.946;0.974;0.968	B;B;B;B	0.43701	0.428;0.346;0.428;0.302	T	0.27226	-1.0080	10	0.06757	T	0.87	-5.1489	5.5265	0.16960	0.1686:0.0:0.6735:0.1579	.	143;141;141;141	Q6ZVU9;Q08334;B4DSX5;F5H766	.;I10R2_HUMAN;.;.	K	141	ENSP00000290200:E141K	ENSP00000290200:E141K	E	+	1	0	IL10RB	33574016	0.003000	0.15002	0.003000	0.11579	0.050000	0.14768	0.371000	0.20450	0.755000	0.32990	0.643000	0.83706	GAA	IL10RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000139831.3		+	ENST00000290200.2	Missense_Mutation	SNP	21 : 34652146 - 34652146 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	670	66
FRMD1	79981	broad.mit.edu	37	6	168465674	168465674	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168465674G>A	ENST00000283309.6	-	5	589	c.525C>T	c.(523-525)tgC>tgT	p.C175C	FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000440994.2_Silent_p.C107C|FRMD1_ENST00000537786.1_5'UTR	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	175	FERM.					cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CCCGGTGAGCGCACTGTGACC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)							NA				0								G	,	0,4406		0,0,2203	64	55	58		321,525	-0.3	0	6		58	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	FRMD1	NM_001122841.1,NM_024919.3	,	0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154	,	107/482,175/550	168465674	2,13004	2203	4300	6503	SO:0001819	synonymous_variant				CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303	79981	79981			21240	protein-coding gene	gene with protein product					NA		Standard	NM_024919	NM_001122841	NA	Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.525C>T	6.37:g.168465674G>A		NA	B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	37	CCDS5306.1																																																																																			FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362513.2		-	ENST00000283309.6	Silent	SNP	6 : 168465674 - 168465674 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	174	32
ZNF131	7690	broad.mit.edu	37	5	43161521	43161521	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43161521A>G	ENST00000509634.1	+	4	998	c.542A>G	c.(541-543)gAt>gGt	p.D181G	ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000399534.1_Missense_Mutation_p.D181G|ZNF131_ENST00000509156.1_Missense_Mutation_p.D181G|ZNF131_ENST00000505606.2_Missense_Mutation_p.D181G|ZNF131_ENST00000306938.4_Missense_Mutation_p.D181G			P52739	ZN131_HUMAN	zinc finger protein 131	181						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						GAAGTGGAAGATGAAGGCATC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	92	95			NA	NA	5		NA											NA				43161521		1946	4136	6082	SO:0001583	missense			U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262	7690	7690		Zinc fingers, C2H2-type, -, BTB/POZ domain containing	12915	protein-coding gene	gene with protein product	zinc finger and BTB domain containing 35	604073	zinc finger protein 131 (clone pHZ-10)		NA		Standard	NM_003432	XM_005248359	NA	Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000509634.1:c.542A>G	5.37:g.43161521A>G	ENSP00000421246:p.Asp181Gly	NA	B4DRL3|Q6PIF0	37	CCDS43313.1	.	.	.	.	.	.	.	.	.	.	A	13.39	2.222358	0.39300	.	.	ENSG00000172262	ENST00000515326;ENST00000509156;ENST00000306938;ENST00000399534;ENST00000505606;ENST00000509634	T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	5.42	4.27	0.50696	.	0.154858	0.56097	N	0.000029	T	0.53610	0.1807	N	0.14661	0.345	0.44871	D	0.997882	P;B	0.43094	0.799;0.004	B;B	0.35413	0.202;0.006	T	0.54022	-0.8355	10	0.39692	T	0.17	-16.9118	10.9487	0.47317	0.9268:0.0:0.0732:0.0	.	181;181	P52739;P52739-2	ZN131_HUMAN;.	G	181	ENSP00000422079:D181G;ENSP00000426504:D181G;ENSP00000305804:D181G;ENSP00000382450:D181G;ENSP00000423945:D181G;ENSP00000421246:D181G	ENSP00000305804:D181G	D	+	2	0	ZNF131	43197278	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	5.655000	0.67981	0.908000	0.36671	0.528000	0.53228	GAT	ZNF131-011	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367984.1		+	ENST00000509634.1	Missense_Mutation	SNP	5 : 43161521 - 43161521 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	409	79
IGF2R	3482	broad.mit.edu	37	6	160455500	160455500	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160455500A>C	ENST00000356956.1	+	10	1409	c.1261A>C	c.(1261-1263)Agc>Cgc	p.S421R		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	421					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TGATGAATGCAGCTCAGGGTT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	129	133			NA	NA	6		NA											NA				160455500		2203	4300	6503	SO:0001583	missense			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081	3482	3482		CD molecules	5467	protein-coding gene	gene with protein product	cation-independent mannose-6 phosphate receptor	147280			NA		Standard	NM_000876	NM_000876	NA	Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.1261A>C	6.37:g.160455500A>C	ENSP00000349437:p.Ser421Arg	NA	Q7Z7G9|Q96PT5	37	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	A	16.60	3.168410	0.57584	.	.	ENSG00000197081	ENST00000356956	T	0.04119	3.7	5.5	5.5	0.81552	Mannose-6-phosphate receptor, binding (1);	0.135082	0.64402	D	0.000003	T	0.09862	0.0242	M	0.86028	2.79	0.58432	D	0.999998	P	0.52316	0.952	P	0.51582	0.674	T	0.05451	-1.0884	10	0.35671	T	0.21	-12.1161	15.6029	0.76639	1.0:0.0:0.0:0.0	.	421	P11717	MPRI_HUMAN	R	421	ENSP00000349437:S421R	ENSP00000349437:S421R	S	+	1	0	IGF2R	160375490	1.000000	0.71417	1.000000	0.80357	0.514000	0.34195	6.739000	0.74827	2.090000	0.63153	0.533000	0.62120	AGC	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042931.1		+	ENST00000356956.1	Missense_Mutation	SNP	6 : 160455500 - 160455500 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	617	41
TRUB2	26995	broad.mit.edu	37	9	131083973	131083973	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131083973C>T	ENST00000372890.4	-	2	479	c.146G>A	c.(145-147)cGt>cAt	p.R49H	TRUB2_ENST00000546104.1_De_novo_Start_OutOfFrame|TRUB2_ENST00000460320.1_5'UTR	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	49					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						GAAGCGAACACGCTGTTTAGG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	85	91			NA	NA	9		NA											NA				131083973		2203	4300	6503	SO:0001583	missense			AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112	26995	26995			17170	protein-coding gene	gene with protein product		610727	TruB pseudouridine (psi) synthase homolog 2 (E. coli)		NA	12736709	Standard	NM_015679	NM_015679	NA	Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.146G>A	9.37:g.131083973C>T	ENSP00000361982:p.Arg49His	NA		37	CCDS6897.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837199	0.50951	.	.	ENSG00000167112	ENST00000372890	T	0.18657	2.2	5.83	2.61	0.31194	Pseudouridine synthase, catalytic domain (1);	0.382772	0.30999	N	0.008460	T	0.10937	0.0267	N	0.21282	0.65	0.80722	D	1	B	0.23490	0.086	B	0.12156	0.007	T	0.15578	-1.0432	10	0.23302	T	0.38	-7.2384	5.728	0.18024	0.0:0.5941:0.0:0.4059	.	49	O95900	TRUB2_HUMAN	H	49	ENSP00000361982:R49H	ENSP00000361982:R49H	R	-	2	0	TRUB2	130123794	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.476000	0.35420	0.798000	0.33994	0.563000	0.77884	CGT	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054419.1		-	ENST00000372890.4	Missense_Mutation	SNP	9 : 131083973 - 131083973 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	279	54
ICA1	3382	broad.mit.edu	37	7	8153658	8153658	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:8153658G>T	ENST00000402384.3	-	14	1613	c.1347C>A	c.(1345-1347)gcC>gcA	p.A449A	ICA1_ENST00000401396.1_Silent_p.A437A|ICA1_ENST00000265577.7_Silent_p.A448A|ICA1_ENST00000406470.2_Silent_p.A449A|ICA1_ENST00000422063.2_Silent_p.A478A|AC006042.6_ENST00000449931.1_RNA|ICA1_ENST00000396675.3_Silent_p.A449A			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	449					neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TCAGGTCTGAGGCAGCCTTAG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	107	110			NA	NA	7		NA											NA				8153658		2203	4300	6503	SO:0001819	synonymous_variant				CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147	3382	3382			5343	protein-coding gene	gene with protein product		147625	islet cell autoantigen 1 (69kD)		NA	7918678, 8777998	Standard	NM_004968	NM_001276478	NA	Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.1347C>A	7.37:g.8153658G>T		NA	A8K7U1|P78506|Q13824	37	CCDS34602.1																																																																																			ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324793.1		-	ENST00000402384.3	Silent	SNP	7 : 8153658 - 8153658 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	468	100
FGFR3	2261	broad.mit.edu	37	4	1805556	1805556	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1805556G>A	ENST00000481110.2	+	8	1329	c.1068G>A	c.(1066-1068)gtG>gtA	p.V356V	FGFR3_ENST00000340107.4_Intron|FGFR3_ENST00000260795.2_Silent_p.V356V|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000440486.2_Silent_p.V356V			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	356					bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GGCTGGTGGTGCTGCCAGGTA	0.617		1	Mis, T	IGH@, ETV6	bladder, MM, T-cell lymphoma		Hypochondroplasia, Thanatophoric dysplasia		Saethre-Chotzen syndrome;Muenke syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		4	4p16.3	2261	fibroblast growth factor receptor 3	yes	L, E	0													96	96	96			NA	NA	4		NA											NA				1805556		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078	2261	2261		CD molecules, Immunoglobulin superfamily / I-set domain containing	3690	protein-coding gene	gene with protein product		134934	achondroplasia, thanatophoric dwarfism	ACH	NA	1847508	Standard	NM_000142	NM_000142	NA	Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000481110.2:c.1068G>A	4.37:g.1805556G>A		NA	D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	37																																																																																				FGFR3-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000358204.2		+	ENST00000481110.2	Silent	SNP	4 : 1805556 - 1805556 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	517	81
CRADD	8738	broad.mit.edu	37	12	94072579	94072579	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:94072579G>A	ENST00000542893.2	+	2	347	c.29G>A	c.(28-30)cGc>cAc	p.R10H	CRADD_ENST00000552033.1_Missense_Mutation_p.R10H|CRADD_ENST00000332896.3_Missense_Mutation_p.R10H|CRADD_ENST00000541813.1_Missense_Mutation_p.R10H|CRADD_ENST00000552983.1_Missense_Mutation_p.R10H|CRADD_ENST00000548483.1_Missense_Mutation_p.R10H			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	10	CARD.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						CAAGTACTCCGCTCACTTCGC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	67	69			NA	NA	12		NA											NA				94072579		2203	4300	6503	SO:0001583	missense			U84388	CCDS9048.1	12q21.33-q23.1	2008-08-04				ENSG00000169372	8738	8738			2340	protein-coding gene	gene with protein product	RIP-associated ICH1/CED3-homologous protein with death domain	603454			NA	8985253, 9044836	Standard	NM_003805	NM_003805	NA	Approved	RAIDD	uc001tda.3	P78560		ENST00000542893.2:c.29G>A	12.37:g.94072579G>A	ENSP00000439068:p.Arg10His	NA		37	CCDS9048.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963985	0.92791	.	.	ENSG00000169372	ENST00000552983;ENST00000332896;ENST00000552033;ENST00000548483;ENST00000542893;ENST00000541813	T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89	5.19	5.19	0.71726	DEATH-like (2);Caspase Recruitment (3);	0.000000	0.85682	D	0.000000	T	0.53850	0.1822	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.58177	-0.7682	10	0.72032	D	0.01	-7.4989	18.7029	0.91627	0.0:0.0:1.0:0.0	.	10;10	F5H7C2;P78560	.;CRADD_HUMAN	H	10	ENSP00000449570:R10H;ENSP00000327647:R10H;ENSP00000449664:R10H;ENSP00000448685:R10H;ENSP00000439068:R10H;ENSP00000442624:R10H	ENSP00000327647:R10H	R	+	2	0	CRADD	92596710	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	8.787000	0.91830	2.403000	0.81681	0.655000	0.94253	CGC	CRADD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408515.1		+	ENST00000542893.2	Missense_Mutation	SNP	12 : 94072579 - 94072579 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	276	56
TTC38	55020	broad.mit.edu	37	22	46685356	46685356	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46685356C>T	ENST00000381031.3	+	12	1216	c.1140C>T	c.(1138-1140)tgC>tgT	p.C380C	TTC38_ENST00000445282.2_Silent_p.C322C	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	380							binding			endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						TGCCCCTGTGCCAGGCCCTGG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	36	33			NA	NA	22		NA											NA				46685356		2085	4197	6282	SO:0001819	synonymous_variant				CCDS43030.1	22q13	2013-01-11			ENSG00000075234	ENSG00000075234	55020	55020		Tetratricopeptide (TTC) repeat domain containing	26082	protein-coding gene	gene with protein product					NA		Standard	NM_017931	NM_017931	NA	Approved	FLJ20699	uc003bhi.3	Q5R3I4	OTTHUMG00000150494	ENST00000381031.3:c.1140C>T	22.37:g.46685356C>T		NA	Q8WV27|Q9NWP8	37	CCDS43030.1																																																																																			TTC38-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318469.1		+	ENST00000381031.3	Silent	SNP	22 : 46685356 - 46685356 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	336	35
A1BG	1	broad.mit.edu	37	19	58864788	58864788	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58864788C>T	ENST00000263100.3	-	1	77	c.16G>A	c.(16-18)Gtc>Atc	p.V6I	A1BG-AS1_ENST00000593960.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000600686.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	6						extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		AAGAGAAAGACCACGAGCATG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	53	52			NA	NA	19		NA											NA				58864788		2202	4300	6502	SO:0001583	missense				CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410	1	1		Immunoglobulin superfamily / Immunoglobulin-like domain containing	5	protein-coding gene	gene with protein product		138670			NA	2591067	Standard	NM_130786	NM_130786	NA	Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.16G>A	19.37:g.58864788C>T	ENSP00000263100:p.Val6Ile	NA	A8K052|Q68CK0|Q8IYJ6|Q96P39	37	CCDS12976.1	.	.	.	.	.	.	.	.	.	.	C	4.265	0.048324	0.08243	.	.	ENSG00000121410	ENST00000263100	T	0.00534	6.74	3.25	-0.496	0.12027	.	2.038350	0.02702	N	0.111919	T	0.00412	0.0013	N	0.11560	0.145	0.09310	N	1	B	0.09022	0.002	B	0.14578	0.011	T	0.44159	-0.9346	10	0.22706	T	0.39	.	8.6177	0.33842	0.6089:0.3911:0.0:0.0	.	6	P04217	A1BG_HUMAN	I	6	ENSP00000263100:V6I	ENSP00000263100:V6I	V	-	1	0	A1BG	63556600	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.180000	0.16860	0.002000	0.14630	-0.309000	0.09137	GTC	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466930.1		-	ENST00000263100.3	Missense_Mutation	SNP	19 : 58864788 - 58864788 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	114	15
PLEC	5339	broad.mit.edu	37	8	144991545	144991545	+	Silent	SNP	C	C	T	rs143548638	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144991545C>T	ENST00000322810.4	-	32	13024	c.12855G>A	c.(12853-12855)acG>acA	p.T4285T	PLEC_ENST00000356346.3_Silent_p.T4134T|PLEC_ENST00000436759.2_Silent_p.T4175T|PLEC_ENST00000354589.3_Silent_p.T4148T|PLEC_ENST00000345136.3_Silent_p.T4148T|PLEC_ENST00000357649.2_Silent_p.T4152T|PLEC_ENST00000527096.1_Silent_p.T4171T|PLEC_ENST00000354958.2_Silent_p.T4126T|PLEC_ENST00000398774.2_Silent_p.T4116T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4285	Binding to intermediate filaments (By similarity).|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCTCCTTGCCCGTCTCGGGGT	0.622		NA											C	2	9e-04	NA	NA	2184	NA	0.9994	,	,	NA	3e-04	0.0026	NA	NA	0.0012	0.7929	LOWCOV,EXOME	NA	NA	0.0014	SNP								NA				0								C	,,,,,,,	0,4282		0,0,2141	74	82	79		12525,12402,12378,12855,12348,12444,12456,12444	-2.4	1	8	dbSNP_134	79	1,8483		0,1,4241	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	0,1,6382	TT,TC,CC	NA	0.0118,0.0,0.0078	,,,,,,,	4175/4575,4134/4534,4126/4526,4285/4685,4116/4516,4148/4548,4152/4552,4148/4548	144991545	1,12765	2141	4242	6383	SO:0001819	synonymous_variant			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209	5339	5339			9069	protein-coding gene	gene with protein product		601282	plectin 1, intermediate filament binding protein, 500kD, epidermolysis bullosa simplex 1 (Ogna), plectin 1, intermediate filament binding protein 500kDa	EBS1, PLEC1	NA	8633055, 8696340	Standard	NM_000445	XM_005250976	NA	Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12855G>A	8.37:g.144991545C>T		NA	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	37	CCDS43772.1																																																																																			PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383281.1		-	ENST00000322810.4	Silent	SNP	8 : 144991545 - 144991545 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	457	81
PCYOX1L	78991	broad.mit.edu	37	5	148742307	148742307	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148742307C>T	ENST00000274569.4	+	2	258	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	PCYOX1L_ENST00000514349.1_5'UTR	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	66					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGGTGGCCGCTTGGCCAC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(62;1136 1477 27277 27495)							NA				0													103	107	106			NA	NA	5		NA											NA				148742307		2203	4300	6503	SO:0001583	missense				CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882	78991	78991			28477	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024028	NM_024028	NA	Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.196C>T	5.37:g.148742307C>T	ENSP00000274569:p.Arg66Cys	NA	Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	37	CCDS4296.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884128	0.51908	.	.	ENSG00000145882	ENST00000274569	T	0.15834	2.39	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.46405	0.1391	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.48019	-0.9071	10	0.87932	D	0	-20.8276	19.1631	0.93543	0.0:1.0:0.0:0.0	.	66	Q8NBM8	PCYXL_HUMAN	C	66	ENSP00000274569:R66C	ENSP00000274569:R66C	R	+	1	0	PCYOX1L	148722500	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	5.877000	0.69675	2.596000	0.87737	0.561000	0.74099	CGC	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252331.2		+	ENST00000274569.4	Missense_Mutation	SNP	5 : 148742307 - 148742307 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	872	71
ZMYM2	7750	broad.mit.edu	37	13	20625673	20625673	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20625673G>A	ENST00000382874.2	+	14	2583	c.2393G>A	c.(2392-2394)cGt>cAt	p.R798H	ZMYM2_ENST00000382869.3_Missense_Mutation_p.R798H|ZMYM2_ENST00000382883.3_Missense_Mutation_p.R280H|ZMYM2_ENST00000382871.2_Missense_Mutation_p.R798H	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	798					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TGCTTACTGCGTTTCTACTGT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	118	118			NA	NA	13		NA											NA				20625673		1919	4132	6051	SO:0001583	missense			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741	7750	7750		Zinc fingers, MYM type	12989	protein-coding gene	gene with protein product		602221	zinc finger protein 198	ZNF198	NA	9499416, 9425908	Standard	NM_003453	XM_005266517	NA	Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.2393G>A	13.37:g.20625673G>A	ENSP00000372327:p.Arg798His	NA	A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	37	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558110	0.65538	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382883;ENST00000382870	T;T	0.46063	2.21;0.88	5.63	5.63	0.86233	TRASH (1);Zinc finger, MYM-type (1);	0.147068	0.64402	D	0.000014	T	0.59770	0.2218	L	0.47716	1.5	0.54753	D	0.999984	D	0.89917	1.0	D	0.70935	0.971	T	0.57207	-0.7851	10	0.49607	T	0.09	-6.5552	19.6626	0.95878	0.0:0.0:1.0:0.0	.	798	Q9UBW7	ZMYM2_HUMAN	H	798;798;796;796;280;176	ENSP00000372322:R798H;ENSP00000372336:R280H	ENSP00000372322:R798H	R	+	2	0	ZMYM2	19523673	1.000000	0.71417	0.952000	0.39060	0.862000	0.49288	5.016000	0.64041	2.643000	0.89663	0.655000	0.94253	CGT	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044051.2		+	ENST00000382874.2	Missense_Mutation	SNP	13 : 20625673 - 20625673 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	54
SHROOM4	57477	broad.mit.edu	37	X	50376791	50376791	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:50376791G>T	ENST00000460112.3	-	3	2388	c.1934C>A	c.(1933-1935)gCt>gAt	p.A645D	SHROOM4_ENST00000376020.2_Missense_Mutation_p.A761D|SHROOM4_ENST00000289292.7_Missense_Mutation_p.A761D			Q9ULL8	SHRM4_HUMAN	shroom family member 4	761					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ATCCTCCCCAGCTTGAGCAGT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	54	54			NA	NA	X		NA											NA				50376791		2203	4300	6503	SO:0001583	missense			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352	57477	57477			29215	protein-coding gene	gene with protein product		300579			NA	10574462, 16615870	Standard	NM_020717	NR_027121	NA	Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000460112.3:c.1934C>A	X.37:g.50376791G>T	ENSP00000421450:p.Ala645Asp	NA	A7E2X9|D6RFW0|Q96LA0	37		.	.	.	.	.	.	.	.	.	.	G	9.913	1.210131	0.22289	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	D;D;D	0.88201	-2.35;-2.35;-2.35	5.74	4.88	0.63580	.	0.306844	0.30556	N	0.009371	T	0.79221	0.4409	L	0.32530	0.975	0.37514	D	0.917255	P	0.42409	0.779	B	0.32289	0.143	T	0.79596	-0.1738	10	0.44086	T	0.13	.	8.4126	0.32653	0.0831:0.0:0.7634:0.1535	.	761	Q9ULL8	SHRM4_HUMAN	D	761;761;645	ENSP00000289292:A761D;ENSP00000365188:A761D;ENSP00000421450:A645D	ENSP00000289292:A761D	A	-	2	0	SHROOM4	50393531	0.450000	0.25697	0.993000	0.49108	0.783000	0.44284	1.445000	0.35079	1.182000	0.42928	0.600000	0.82982	GCT	SHROOM4-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000056565.4		-	ENST00000460112.3	Missense_Mutation	SNP	X : 50376791 - 50376791 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	89
UNC13C	440279	broad.mit.edu	37	15	54556523	54556523	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54556523G>A	ENST00000260323.11	+	8	3606	c.3606G>A	c.(3604-3606)caG>caA	p.Q1202Q	UNC13C_ENST00000537900.1_Silent_p.Q1200Q|UNC13C_ENST00000545554.1_Silent_p.Q1202Q	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1202					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATTTTGTGCAGTTTACAAAGG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	40	40			NA	NA	15		NA											NA				54556523		1804	4061	5865	SO:0001819	synonymous_variant			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766	440279	440279			23149	protein-coding gene	gene with protein product		614568			NA		Standard	NM_173166	NM_001080534	NA	Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3606G>A	15.37:g.54556523G>A		NA	Q0P613|Q8ND48|Q96NP3	37	CCDS45264.1																																																																																			UNC13C-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419028.3		+	ENST00000260323.11	Silent	SNP	15 : 54556523 - 54556523 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	73	12
TACC2	10579	broad.mit.edu	37	10	123843830	123843830	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123843830G>A	ENST00000369005.1	+	4	2155	c.1815G>A	c.(1813-1815)aaG>aaA	p.K605K	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Silent_p.K605K|TACC2_ENST00000453444.2_Silent_p.K605K|TACC2_ENST00000515273.1_Silent_p.K605K|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Silent_p.K605K	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	605						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TCAGCAGCAAGCGTGATCCAG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	67	68			NA	NA	10		NA											NA				123843830		2203	4300	6503	SO:0001819	synonymous_variant			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162	10579	10579			11523	protein-coding gene	gene with protein product		605302			NA	14767476	Standard		XM_005269388	NA	Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.1815G>A	10.37:g.123843830G>A		NA	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	37	CCDS7626.1																																																																																			TACC2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090004.1		+	ENST00000369005.1	Silent	SNP	10 : 123843830 - 123843830 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	50
ARHGAP29	9411	broad.mit.edu	37	1	94643259	94643259	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94643259C>T	ENST00000260526.6	-	22	2996	c.2814G>A	c.(2812-2814)gaG>gaA	p.E938E	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	938					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TGCTTTCACTCTCTGAAGTAT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	107	110			NA	NA	1		NA											NA				94643259		2203	4300	6503	SO:0001819	synonymous_variant				CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962	9411	9411		Rho GTPase activating proteins	30207	protein-coding gene	gene with protein product		610496			NA	9305890	Standard	NM_004815	NM_004815	NA	Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.2814G>A	1.37:g.94643259C>T		NA	O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	37	CCDS748.1																																																																																			ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029376.2		-	ENST00000260526.6	Silent	SNP	1 : 94643259 - 94643259 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	287	27
CXCR1	3577	broad.mit.edu	37	2	219029293	219029293	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219029293C>T	ENST00000295683.2	-	2	762	c.642G>A	c.(640-642)ccG>ccA	p.P214P		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	214					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						TGACAAACAGCGGCACGATGA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	115	120			NA	NA	2		NA											NA				219029293		2203	4300	6503	SO:0001819	synonymous_variant			U11870	CCDS2409.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000163464	ENSG00000163464	3577	3577		CD molecules, GPCR / Class A : Chemokine receptors : C-X-C motif, Interleukins and interleukin receptors	6026	protein-coding gene	gene with protein product		146929	interleukin 8 receptor, alpha	CMKAR1, IL8RA	NA	1303245, 1427896	Standard	NM_000634	NM_000634	NA	Approved	CKR-1, CDw128a, CD181	uc002vhc.3	P25024	OTTHUMG00000133108	ENST00000295683.2:c.642G>A	2.37:g.219029293C>T		NA	B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	37	CCDS2409.1																																																																																			CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256773.2		-	ENST00000295683.2	Silent	SNP	2 : 219029293 - 219029293 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	588	119
TIGIT	201633	broad.mit.edu	37	3	114018494	114018494	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114018494G>A	ENST00000481065.1	+	4	3258	c.643G>A	c.(643-645)Gcg>Acg	p.A215T	TIGIT_ENST00000383671.3_Missense_Mutation_p.A148T|TIGIT_ENST00000486257.1_Missense_Mutation_p.A148T			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	148					negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						AGCCATGGCCGCGACGCTGGT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA	0,4406		0,0,2203	91	76	81		442	-8.2	0	3		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	TIGIT	NM_173799.3	58	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	148/245	114018494	1,13005	2203	4300	6503	SO:0001583	missense			AK097192	CCDS2980.1	3q13.31	2013-01-11	2008-10-13	2008-10-13	ENSG00000181847	ENSG00000181847	201633	201633		Immunoglobulin superfamily / V-set domain containing	26838	protein-coding gene	gene with protein product		612859	V-set and immunoglobulin domain containing 9, V-set and transmembrane domain containing 3	VSIG9, VSTM3	NA	19011627	Standard	NM_173799	NM_173799	NA	Approved	FLJ39873, DKFZp667A205	uc003ebg.2	Q495A1	OTTHUMG00000159331	ENST00000481065.1:c.643G>A	3.37:g.114018494G>A	ENSP00000420552:p.Ala215Thr	NA	Q495A3|Q5JPD8|Q6MZS2|Q8N877	37		.	.	.	.	.	.	.	.	.	.	G	0.030	-1.340308	0.01277	0.0	1.16E-4	ENSG00000181847	ENST00000461158;ENST00000481065;ENST00000486257;ENST00000383671;ENST00000484319	T;T;T;T;T	0.56611	0.51;0.45;0.49;0.49;0.51	4.09	-8.19	0.01049	.	1.743640	0.02883	N	0.133134	T	0.29190	0.0726	N	0.17082	0.46	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.29882	-0.9997	10	0.07813	T	0.8	4.6473	8.6741	0.34167	0.1485:0.0:0.5321:0.3194	.	148	Q495A1	TIGIT_HUMAN	T	127;215;148;148;127	ENSP00000418917:A127T;ENSP00000420552:A215T;ENSP00000419085:A148T;ENSP00000373167:A148T;ENSP00000419706:A127T	ENSP00000373167:A148T	A	+	1	0	TIGIT	115501184	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.907000	0.00700	-2.557000	0.00476	-1.140000	0.01884	GCG	TIGIT-001	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000354689.1		+	ENST00000481065.1	Missense_Mutation	SNP	3 : 114018494 - 114018494 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	304	49
ASIC4	55515	broad.mit.edu	37	2	220397076	220397076	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220397076G>T	ENST00000358078.4	+	4	1290	c.1276G>T	c.(1276-1278)Gag>Tag	p.E426*	ASIC4_ENST00000473709.1_3'UTR|ASIC4_ENST00000347842.3_Nonsense_Mutation_p.E426*			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	426						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity				NA						CTGCCGCGCAGAGAGTGAGCT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	49	49			NA	NA	2		NA											NA				220397076		2203	4300	6503	SO:0001587	stop_gained			AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182	55515	55515		Ion channels / Acid-sensing (proton-gated) ion channels	21263	protein-coding gene	gene with protein product		606715	amiloride-sensitive cation channel 4, pituitary, amiloride-sensitive cation channel family member 4, pituitary	ACCN4	NA	10852210	Standard	NM_018674	NM_182847	NA	Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000358078.4:c.1276G>T	2.37:g.220397076G>T	ENSP00000350786:p.Glu426*	NA	Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	37		.	.	.	.	.	.	.	.	.	.	G	13.83	2.353788	0.41700	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	.	.	.	4.1	4.1	0.47936	.	0.309838	0.32473	N	0.006041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-10.3794	12.0364	0.53427	0.0:0.0:1.0:0.0	.	.	.	.	X	426	.	ENSP00000326627:E426X	E	+	1	0	ACCN4	220105320	0.998000	0.40836	0.908000	0.35775	0.063000	0.16089	3.093000	0.50217	2.305000	0.77605	0.561000	0.74099	GAG	ASIC4-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000130266.1		+	ENST00000358078.4	Nonsense_Mutation	SNP	2 : 220397076 - 220397076 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	69
CCDC87	55231	broad.mit.edu	37	11	66359860	66359860	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66359860G>T	ENST00000333861.3	-	1	694	c.627C>A	c.(625-627)atC>atA	p.I209I		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	209										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GAGGCCAGGGGATAGGGCACA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	50	54			NA	NA	11		NA											NA				66359860		2200	4295	6495	SO:0001819	synonymous_variant			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791	55231	55231			25579	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_018219	NM_018219	NA	Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.627C>A	11.37:g.66359860G>T		NA	Q8NE76	37	CCDS8145.1																																																																																			CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393825.1		-	ENST00000333861.3	Silent	SNP	11 : 66359860 - 66359860 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	221	23
PCM1	5108	broad.mit.edu	37	8	17869310	17869310	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17869310A>G	ENST00000519253.1	+	34	5712	c.5461A>G	c.(5461-5463)Act>Gct	p.T1821A	PCM1_ENST00000325083.8_Missense_Mutation_p.T1829A|PCM1_ENST00000524226.1_Missense_Mutation_p.T1775A|PCM1_ENST00000327578.8_Missense_Mutation_p.T528A			Q15154	PCM1_HUMAN	pericentriolar material 1	1829					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		CACTGAAGCTACTGAAGAAAA	0.393		NA	T	RET, JAK2	papillary thyroid, CML, MPD									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		E, L	0													132	134	133			NA	NA	8		NA											NA				17869310		1920	4127	6047	SO:0001583	missense				CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674	5108	5108			8727	protein-coding gene	gene with protein product		600299			NA	8120099, 15659651	Standard	NM_006197	NM_006197	NA	Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.5461A>G	8.37:g.17869310A>G	ENSP00000431099:p.Thr1821Ala	NA	Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	37		.	.	.	.	.	.	.	.	.	.	A	7.488	0.649995	0.14516	.	.	ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000524226;ENST00000327578	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	5.32	1.26	0.21427	.	0.627807	0.17034	N	0.189614	T	0.27967	0.0689	N	0.01874	-0.695	0.09310	N	1	B;B;B;B;B;B;B	0.10296	0.001;0.001;0.0;0.001;0.001;0.003;0.001	B;B;B;B;B;B;B	0.09377	0.002;0.002;0.003;0.002;0.001;0.004;0.002	T	0.18840	-1.0324	10	0.18276	T	0.48	-2.9531	5.6939	0.17845	0.4667:0.1901:0.3432:0.0	.	1821;1829;628;1821;1774;1775;1829	B9EIS5;D3DSQ0;B4DJ00;E7ETA6;Q15154-2;E7EV56;Q15154	.;.;.;.;.;.;PCM1_HUMAN	A	1829;1821;1775;528	ENSP00000327077:T1829A;ENSP00000431099:T1821A;ENSP00000430521:T1775A;ENSP00000328332:T528A	ENSP00000327077:T1829A	T	+	1	0	PCM1	17913590	0.000000	0.05858	0.864000	0.33941	0.897000	0.52465	-0.088000	0.11198	0.415000	0.25817	0.533000	0.62120	ACT	PCM1-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000374800.1		+	ENST00000519253.1	Missense_Mutation	SNP	8 : 17869310 - 17869310 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	245	43
SPEM1	374768	broad.mit.edu	37	17	7323996	7323996	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7323996T>C	ENST00000323675.3	+	2	220	c.195T>C	c.(193-195)atT>atC	p.I65I	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	65					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				ATGATACCATTTGTGAGAAAG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	103	103			NA	NA	17		NA											NA				7323996		1943	4133	6076	SO:0001819	synonymous_variant			AK097400	CCDS42254.1	17p13.1	2011-12-12	2008-02-04	2008-02-04	ENSG00000181323	ENSG00000181323	374768	374768			32429	protein-coding gene	gene with protein product		615116	chromosome 17 open reading frame 83	C17orf83	NA	17426145, 20558241, 21184802	Standard	NM_199339	NM_199339	NA	Approved	FLJ40081	uc002ggv.3	Q8N4L4		ENST00000323675.3:c.195T>C	17.37:g.7323996T>C		NA		37	CCDS42254.1																																																																																			SPEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000440932.1		+	ENST00000323675.3	Silent	SNP	17 : 7323996 - 7323996 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	454	85
IQCH	64799	broad.mit.edu	37	15	67665742	67665742	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:67665742G>T	ENST00000335894.4	+	10	1409	c.1343G>T	c.(1342-1344)aGg>aTg	p.R448M	IQCH_ENST00000358767.3_Missense_Mutation_p.R275M|IQCH_ENST00000546225.1_Missense_Mutation_p.R196M|IQCH_ENST00000360277.4_Missense_Mutation_p.R200M	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	448										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		AGGACCTCCAGGAGGACTATT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	131	138			NA	NA	15		NA											NA				67665742		2201	4299	6500	SO:0001583	missense			AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599	64799	64799			25721	protein-coding gene	gene with protein product		612523			NA	12477932	Standard	NM_022784	NM_022784	NA	Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.1343G>T	15.37:g.67665742G>T	ENSP00000336861:p.Arg448Met	NA	A8K8W3|C9JPR6|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	37	CCDS32273.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977290	0.53720	.	.	ENSG00000103599	ENST00000358767;ENST00000546225;ENST00000335894;ENST00000360277	T;T;T;T	0.50277	0.76;0.8;0.75;0.79	5.95	5.04	0.67666	.	0.091195	0.85682	D	0.000000	T	0.69333	0.3099	M	0.78637	2.42	0.29267	N	0.870963	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.85130	0.961;0.977;0.982;0.997	T	0.69914	-0.5016	10	0.62326	D	0.03	0.0092	15.0812	0.72117	0.0677:0.0:0.9323:0.0	.	196;200;448;275	Q86VS3-2;Q86VS3-4;Q86VS3;Q86VS3-3	.;.;IQCH_HUMAN;.	M	275;196;448;200	ENSP00000351617:R275M;ENSP00000444118:R196M;ENSP00000336861:R448M;ENSP00000353419:R200M	ENSP00000336861:R448M	R	+	2	0	IQCH	65452796	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.251000	0.58778	1.520000	0.48965	0.655000	0.94253	AGG	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256969.1		+	ENST00000335894.4	Missense_Mutation	SNP	15 : 67665742 - 67665742 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	458	90
VPS13D	55187	broad.mit.edu	37	1	12374263	12374263	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12374263G>A	ENST00000358136.3	+	30	7157	c.7027G>A	c.(7027-7029)Gac>Aac	p.D2343N	VPS13D_ENST00000356315.4_Missense_Mutation_p.D2343N	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2343					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GATGGCTTTTGACACCCGTTA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	90	91			NA	NA	1		NA											NA				12374263		2203	4300	6503	SO:0001583	missense			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707	55187	55187			23595	protein-coding gene	gene with protein product		608877	vacuolar protein sorting 13D (yeast)		NA		Standard	NM_015378	NM_015378	NA	Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.7027G>A	1.37:g.12374263G>A	ENSP00000350854:p.Asp2343Asn	NA	Q58F10|Q6MZK9|Q6ZV12|Q709C4|Q709C5|Q86UB4|Q9NSJ3|Q9UIM0	37	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	34	5.356181	0.95854	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.44881	0.91;0.91	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;1.0	T	0.71034	-0.4709	10	0.66056	D	0.02	.	19.2035	0.93720	0.0:0.0:1.0:0.0	.	250;2343;2343	B1AJZ2;Q5THJ4-2;Q5THJ4	.;.;VP13D_HUMAN	N	2343	ENSP00000348666:D2343N;ENSP00000350854:D2343N	ENSP00000348666:D2343N	D	+	1	0	VPS13D	12296850	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	9.476000	0.97823	2.527000	0.85204	0.561000	0.74099	GAC	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000036897.2		+	ENST00000358136.3	Missense_Mutation	SNP	1 : 12374263 - 12374263 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	241	25
FAM220A	84792	broad.mit.edu	37	7	6370120	6370120	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6370120C>A	ENST00000313324.4	-	2	1133	c.666G>T	c.(664-666)aaG>aaT	p.K222N		NM_001037163.1	NP_001032240.1	Q7Z4H9	SIPAR_HUMAN	family with sequence similarity 220, member A	222						nucleus					NA						CTATTGTTTGCTTTGAAAACA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	120	117			NA	NA	7		NA											NA				6370120		2203	4300	6503	SO:0001583	missense			BC006110	CCDS34599.1	7p22.1	2012-03-19	2012-03-19	2012-03-19	ENSG00000178397	ENSG00000178397	84792	84792			22422	protein-coding gene	gene with protein product	STAT3-interacting protein as a repressor		chromosome 7 open reading frame 70	C7orf70	NA		Standard	NM_001037163	NM_001037163	NA	Approved	SIPAR, MGC12966	uc003spu.3	Q7Z4H9	OTTHUMG00000122091	ENST00000313324.4:c.666G>T	7.37:g.6370120C>A	ENSP00000317289:p.Lys222Asn	NA	Q75ML2|Q8NA52|Q9BRR7	37	CCDS34599.1	.	.	.	.	.	.	.	.	.	.	C	9.312	1.055715	0.19907	.	.	ENSG00000178397	ENST00000313324	T	0.08370	3.1	5.12	2.34	0.29019	.	0.299726	0.23164	U	0.051217	T	0.05593	0.0147	N	0.22421	0.69	0.09310	N	1	B	0.32160	0.358	B	0.32805	0.153	T	0.35325	-0.9793	10	0.38643	T	0.18	-2.4707	7.3516	0.26695	0.0:0.6558:0.0:0.3442	.	222	Q7Z4H9	SIPAR_HUMAN	N	222	ENSP00000317289:K222N	ENSP00000317289:K222N	K	-	3	2	C7orf70	6336645	0.516000	0.26218	0.001000	0.08648	0.001000	0.01503	0.375000	0.20518	0.574000	0.29417	-0.136000	0.14681	AAG	FAM220A-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000242853.2		-	ENST00000313324.4	Missense_Mutation	SNP	7 : 6370120 - 6370120 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	785	117
SKOR1	390598	broad.mit.edu	37	15	68118532	68118532	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:68118532C>A	ENST00000380035.2	+	2	424	c.366C>A	c.(364-366)gcC>gcA	p.A122A	SKOR1_ENST00000554240.1_Silent_p.A83A|SKOR1_ENST00000389002.1_Silent_p.A113A|SKOR1_ENST00000554054.1_Silent_p.A94A|SKOR1_ENST00000341418.5_Silent_p.A308A			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	122					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						GCCGCGTGGCCCTGGGCATCA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	75	76			NA	NA	15		NA											NA				68118532		2200	4298	6498	SO:0001819	synonymous_variant				CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779	390598	390598		SKI transcriptional corepressors	21326	protein-coding gene	gene with protein product	transcriptional corepressor CORL1, functional smad suppressing element 15, corepressor for LBX1	611273	Lbxcor1 homolog (mouse)	LBXCOR1	NA	15528197	Standard	NM_001031807	NM_001258024	NA	Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.366C>A	15.37:g.68118532C>A		NA	A6NIP4|A6NJY0|Q2VWA5	37																																																																																				SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000410832.1		+	ENST00000380035.2	Silent	SNP	15 : 68118532 - 68118532 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	510	85
ALKBH1	8846	broad.mit.edu	37	14	78142126	78142126	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78142126C>T	ENST00000216489.3	-	5	628	c.613G>A	c.(613-615)Gct>Act	p.A205T		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	205					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CCACAGGCAGCGGCTACTTGC	0.458		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	14		NA											NA				78142126		2203	4300	6503	SO:0001583	missense			X91992	CCDS32127.1	14q24	2014-07-23	2006-02-09	2006-02-09	ENSG00000100601	ENSG00000100601	8846	8846		Alkylation repair homologs	17911	protein-coding gene	gene with protein product		605345	alkB, alkylation repair homolog (E. coli)	ALKBH	NA	8600462	Standard	NM_006020	XM_005268165	NA	Approved	hABH, alkB, ABH	uc001xuc.1	Q13686	OTTHUMG00000171542	ENST00000216489.3:c.613G>A	14.37:g.78142126C>T	ENSP00000216489:p.Ala205Thr	NA	Q8TAU1|Q9ULA7	37	CCDS32127.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.834784	0.32421	.	.	ENSG00000100601	ENST00000216489	T	0.12039	2.72	6.17	1.31	0.21738	.	0.172481	0.51477	N	0.000096	T	0.10380	0.0254	L	0.49778	1.585	0.29447	N	0.858722	P	0.37663	0.604	B	0.32465	0.146	T	0.24012	-1.0172	10	0.15499	T	0.54	-20.6112	10.5931	0.45321	0.0:0.6266:0.0:0.3734	.	205	Q13686	ALKB1_HUMAN	T	205	ENSP00000216489:A205T	ENSP00000216489:A205T	A	-	1	0	ALKBH1	77211879	0.005000	0.15991	0.031000	0.17742	0.888000	0.51559	0.135000	0.15952	-0.021000	0.14009	-0.123000	0.14984	GCT	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414037.1		-	ENST00000216489.3	Missense_Mutation	SNP	14 : 78142126 - 78142126 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	387	62
CES3	23491	broad.mit.edu	37	16	67006262	67006262	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67006262C>T	ENST00000543856.1	+	4	658	c.212C>T	c.(211-213)tCt>tTt	p.S71F	CES3_ENST00000303334.4_Missense_Mutation_p.S432F|CES3_ENST00000394037.1_Missense_Mutation_p.S432F	NM_001185176.1	NP_001172105.1	Q6UWW8	EST3_HUMAN	carboxylesterase 3	432						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		TCTGTAGATTCTGGAAGCCCT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													303	315	311			NA	NA	16		NA											NA				67006262		2200	4300	6500	SO:0001583	missense			AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828	23491	23491		Carboxylesterases	1865	protein-coding gene	gene with protein product	esterase 31, brain carboxylesterase BR3	605279	carboxylesterase 3 (brain)		NA	10518925, 14581373, 15100172, 20931200	Standard	NM_024922	NM_001185176	NA	Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000543856.1:c.212C>T	16.37:g.67006262C>T	ENSP00000445559:p.Ser71Phe	NA	B2Z3W9|Q7Z6J1	37	CCDS54023.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743562	0.69418	.	.	ENSG00000172828	ENST00000303334;ENST00000394037;ENST00000543856	T;T;T	0.09911	2.93;2.93;2.93	5.13	3.15	0.36227	Carboxylesterase, type B (1);	0.442058	0.16934	N	0.193544	T	0.11110	0.0271	L	0.43554	1.36	0.25662	N	0.986	B;B	0.15719	0.003;0.014	B;B	0.22152	0.026;0.038	T	0.20438	-1.0275	10	0.87932	D	0	.	9.6111	0.39663	0.0:0.7787:0.1426:0.0787	.	71;432	F5H242;Q6UWW8	.;EST3_HUMAN	F	432;432;71	ENSP00000304782:S432F;ENSP00000377602:S432F;ENSP00000445559:S71F	ENSP00000304782:S432F	S	+	2	0	CES3	65563763	0.931000	0.31567	0.010000	0.14722	0.051000	0.14879	2.671000	0.46842	0.554000	0.29061	-0.304000	0.09214	TCT	CES3-003	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000431986.1		+	ENST00000543856.1	Missense_Mutation	SNP	16 : 67006262 - 67006262 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2467	433
RABL2A	11159	broad.mit.edu	37	2	114398497	114398497	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:114398497C>A	ENST00000409875.1	+	7	626	c.324C>A	c.(322-324)acC>acA	p.T108T	RABL2A_ENST00000409842.1_Intron|RABL2A_ENST00000393165.3_Silent_p.T108T|RABL2A_ENST00000393166.3_Silent_p.T108T|RABL2A_ENST00000376439.3_Intron|RABL2A_ENST00000393167.3_Silent_p.T108T|RABL2A_ENST00000478880.1_3'UTR			Q9UBK7	RBL2A_HUMAN	RAB, member of RAS oncogene family-like 2A	108					small GTPase mediated signal transduction		GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						GGAAAGTCACCTATAGGAACC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	85	87			NA	NA	2		NA											NA				114398497		2201	4299	6500	SO:0001819	synonymous_variant				CCDS2118.1	2q13	2014-05-09			ENSG00000144134	ENSG00000144134	11159	11159		RAB, member RAS oncogene	9799	protein-coding gene	gene with protein product		605412			NA	10444334	Standard		NM_007082	NA	Approved		uc010flb.3	Q9UBK7	OTTHUMG00000047828	ENST00000409875.1:c.324C>A	2.37:g.114398497C>A		NA	B7ZBD6|Q9NU37	37																																																																																				RABL2A-013	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000330960.1		+	ENST00000409875.1	Silent	SNP	2 : 114398497 - 114398497 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	415	64
PKD1L1	168507	broad.mit.edu	37	7	47933614	47933614	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47933614C>A	ENST00000289672.2	-	15	2364	c.2314G>T	c.(2314-2316)Ggc>Tgc	p.G772C		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	772	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACCTCCAGGCCCACACAGTAG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	68	75			NA	NA	7		NA											NA				47933614		2203	4300	6503	SO:0001583	missense			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683	168507	168507			18053	protein-coding gene	gene with protein product	polycystin-1L1	609721			NA	11863367	Standard	NM_138295	NM_138295	NA	Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.2314G>T	7.37:g.47933614C>A	ENSP00000289672:p.Gly772Cys	NA	Q6UWK1	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	c	14.34	2.505172	0.44558	.	.	ENSG00000158683	ENST00000289672	T	0.69685	-0.42	5.23	2.19	0.27852	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	0.393919	0.21761	N	0.069506	T	0.70684	0.3252	L	0.44542	1.39	0.09310	N	1	D	0.89917	1.0	D	0.72982	0.979	T	0.58645	-0.7600	10	0.44086	T	0.13	-13.2627	8.0761	0.30718	0.0:0.4701:0.441:0.089	.	772	Q8TDX9	PK1L1_HUMAN	C	772	ENSP00000289672:G772C	ENSP00000289672:G772C	G	-	1	0	PKD1L1	47900139	0.000000	0.05858	0.385000	0.26158	0.847000	0.48162	0.447000	0.21710	0.570000	0.29347	0.543000	0.68304	GGC	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340974.1		-	ENST00000289672.2	Missense_Mutation	SNP	7 : 47933614 - 47933614 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	363	15
KLK7	5650	broad.mit.edu	37	19	51483600	51483600	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51483600G>A	ENST00000391807.1	-	4	466	c.365C>T	c.(364-366)gCc>gTc	p.A122V	KLK7_ENST00000595820.1_Missense_Mutation_p.A122V|KLK7_ENST00000336317.4_Missense_Mutation_p.A9V|KLK7_ENST00000597707.1_Missense_Mutation_p.A50V|CTB-147C22.9_ENST00000594512.1_RNA	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	122	Peptidase S1.				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		TGACAGCCTGGCCTGGCTATT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	93	103			NA	NA	19		NA											NA				51483600		2203	4300	6503	SO:0001583	missense			L33404	CCDS12812.1, CCDS59414.1	19q13.33	2011-09-07	2006-10-27			ENSG00000169035	5650	5650		Kallikreins, Serine peptidases / Serine peptidases	6368	protein-coding gene	gene with protein product		604438	kallikrein 7 (chymotryptic, stratum corneum)	PRSS6	NA	8034709, 16800724, 16800723	Standard	NM_005046	NM_005046	NA	Approved	SCCE	uc021uyj.1	P49862		ENST00000391807.1:c.365C>T	19.37:g.51483600G>A	ENSP00000375683:p.Ala122Val	NA	Q8N5N9|Q8NFV7	37	CCDS12812.1	.	.	.	.	.	.	.	.	.	.	g	11.20	1.568450	0.28003	.	.	ENSG00000169035	ENST00000304045;ENST00000391807;ENST00000336317	D;D	0.91686	-2.89;-2.23	4.6	0.361	0.16107	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.254023	0.20322	N	0.094608	T	0.71239	0.3316	N	0.02916	-0.46	0.22656	N	0.99889	B	0.23937	0.094	B	0.16722	0.016	T	0.64162	-0.6472	10	0.02654	T	1	.	3.1037	0.06334	0.3087:0.0:0.4984:0.1929	.	122	P49862	KLK7_HUMAN	V	122;122;9	ENSP00000375683:A122V;ENSP00000337540:A9V	ENSP00000304791:A122V	A	-	2	0	KLK7	56175412	0.001000	0.12720	0.006000	0.13384	0.076000	0.17211	0.085000	0.14912	-0.128000	0.11641	0.448000	0.29417	GCC	KLK7-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464344.1		-	ENST00000391807.1	Missense_Mutation	SNP	19 : 51483600 - 51483600 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	278	55
SLC5A11	115584	broad.mit.edu	37	16	24922842	24922842	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24922842C>T	ENST00000347898.3	+	16	2638	c.2016C>T	c.(2014-2016)ggC>ggT	p.G672G	SLC5A11_ENST00000424767.2_Silent_p.G637G|SLC5A11_ENST00000545376.1_Silent_p.G602G|SLC5A11_ENST00000565769.1_Silent_p.G608G|SLC5A11_ENST00000449109.2_Silent_p.G516G|SLC5A11_ENST00000569071.1_Silent_p.G516G|SLC5A11_ENST00000567758.1_Silent_p.G637G|SLC5A11_ENST00000539472.1_Silent_p.G608G|SLC5A11_ENST00000568579.1_Silent_p.G602G	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	672					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TTATCTGGGGCTATTTTGCTT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	123	123			NA	NA	16		NA											NA				24922842		2197	4300	6497	SO:0001819	synonymous_variant			AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865	115584	115584		Solute carriers	23091	protein-coding gene	gene with protein product		610238	solute carrier family 5 (sodium/glucose cotransporter), member 11		NA	12039040, 12133831	Standard	NM_052944	NM_001258414	NA	Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.2016C>T	16.37:g.24922842C>T		NA	Q6PF02|Q6ZUW3|Q86Y55|Q96PP5	37	CCDS10625.1																																																																																			SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214091.3		+	ENST00000347898.3	Silent	SNP	16 : 24922842 - 24922842 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	740	134
POLR3E	55718	broad.mit.edu	37	16	22320292	22320292	+	Missense_Mutation	SNP	G	G	A	rs145630346	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22320292G>A	ENST00000299853.5	+	5	379	c.212G>A	c.(211-213)cGc>cAc	p.R71H	POLR3E_ENST00000359210.4_Missense_Mutation_p.R71H|POLR3E_ENST00000564209.1_Missense_Mutation_p.R71H|POLR3E_ENST00000418581.2_Missense_Mutation_p.R35H|POLR3E_ENST00000564256.1_3'UTR	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	71					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		AACTATTGCCGCAGCAAAGGG	0.617		NA											G	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.9547	LOWCOV,EXOME	NA	NA	0.002	SNP								NA				0													130	104	112			NA	NA	16		NA											NA				22320292		2197	4300	6497	SO:0001583	missense			AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600	55718	55718		RNA polymerase subunits	30347	protein-coding gene	gene with protein product					NA	10819331, 10521666	Standard	NM_018119	NM_018119	NA	Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.212G>A	16.37:g.22320292G>A	ENSP00000299853:p.Arg71His	NA	Q9BWF7|Q9H8W8|Q9H907|Q9P276	37	CCDS10605.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	25.2	4.615409	0.87359	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.47528	0.84;0.84;0.84	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.67353	0.2884	L	0.61387	1.9	0.80722	D	1	D;D;P;P;D	0.89917	1.0;0.977;0.868;0.95;0.971	D;P;B;P;B	0.71656	0.974;0.64;0.271;0.64;0.378	T	0.68880	-0.5292	10	0.87932	D	0	-18.8766	18.5571	0.91089	0.0:0.0:1.0:0.0	.	35;71;71;71;71	B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;RPC5_HUMAN;.	H	71;71;35	ENSP00000299853:R71H;ENSP00000352140:R71H;ENSP00000399254:R35H	ENSP00000299853:R71H	R	+	2	0	POLR3E	22227793	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	9.381000	0.97205	2.684000	0.91462	0.555000	0.69702	CGC	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000211590.1		+	ENST00000299853.5	Missense_Mutation	SNP	16 : 22320292 - 22320292 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	547	100
AIPL1	23746	broad.mit.edu	37	17	6337274	6337274	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6337274C>T	ENST00000381129.3	-	2	321	c.241G>A	c.(241-243)Gtg>Atg	p.V81M	AIPL1_ENST00000570466.1_Missense_Mutation_p.V59M|AIPL1_ENST00000574506.1_Missense_Mutation_p.V69M|AIPL1_ENST00000571740.1_Missense_Mutation_p.V81M|AIPL1_ENST00000250087.5_Missense_Mutation_p.V81M|AIPL1_ENST00000576307.1_Intron|AIPL1_ENST00000575265.1_Missense_Mutation_p.V81M|AIPL1_ENST00000576776.1_Missense_Mutation_p.V81M	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	81	PPIase FKBP-type.				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		ACCTCGTGCACCCGCATGGAG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	90	102			NA	NA	17		NA											NA				6337274		2203	4300	6503	SO:0001583	missense			AF148864	CCDS11075.1, CCDS32539.1, CCDS32540.1, CCDS67130.1, CCDS67131.1, CCDS67132.1, CCDS67133.1	17p13.1	2013-01-08	2001-11-29		ENSG00000129221	ENSG00000129221	23746	23746			359	protein-coding gene	gene with protein product		604392	aryl hydrocarbon receptor-interacting protein-like 1	LCA4	NA	10615133, 14555765, 15365173	Standard	NM_014336	NM_001285402	NA	Approved		uc002gcp.3	Q9NZN9	OTTHUMG00000102043	ENST00000381129.3:c.241G>A	17.37:g.6337274C>T	ENSP00000370521:p.Val81Met	NA	D3DTM4|Q6ZZB6|Q8N6A0|Q9H873|Q9NS10	37	CCDS11075.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735304	0.30774	.	.	ENSG00000129221	ENST00000381129;ENST00000250087;ENST00000444243	D;D	0.87887	-2.31;-2.31	5.05	-10.1	0.00402	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (1);	0.341267	0.28821	N	0.014031	D	0.82697	0.5093	L	0.57536	1.79	0.09310	N	1	P;P;P;P;P	0.50369	0.934;0.823;0.627;0.933;0.91	P;P;B;P;P	0.53593	0.73;0.458;0.255;0.668;0.583	T	0.74910	-0.3503	10	0.46703	T	0.11	-8.5843	5.4559	0.16590	0.0902:0.1015:0.5139:0.2944	.	81;59;81;81;81	Q659W3;Q659W4;F1T0C4;Q9NZN9-3;Q9NZN9	.;.;.;.;AIPL1_HUMAN	M	81	ENSP00000370521:V81M;ENSP00000250087:V81M	ENSP00000250087:V81M	V	-	1	0	AIPL1	6277998	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.414000	0.07114	-1.781000	0.01277	-0.219000	0.12488	GTG	AIPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219828.3		-	ENST00000381129.3	Missense_Mutation	SNP	17 : 6337274 - 6337274 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	184	27
RNF17	56163	broad.mit.edu	37	13	25425606	25425606	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25425606A>C	ENST00000255324.5	+	24	3269	c.3217A>C	c.(3217-3219)Aca>Cca	p.T1073P	RNF17_ENST00000339524.3_Missense_Mutation_p.T125P|RNF17_ENST00000381921.1_Missense_Mutation_p.T1073P	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1073					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AAACAACACAACATGGCCATT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	98	99			NA	NA	13		NA											NA				25425606		2203	4300	6503	SO:0001583	missense			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972	56163	56163		RING-type (C3HC4) zinc fingers, Tudor domain containing	10060	protein-coding gene	gene with protein product	spermatogenesis associated 23	605793	tudor domain containing 4	TDRD4	NA	11279525	Standard	NM_031994	NM_001184993	NA	Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.3217A>C	13.37:g.25425606A>C	ENSP00000255324:p.Thr1073Pro	NA	Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	37	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	A	13.43	2.236299	0.39498	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120;ENST00000339524	T;T;T;T	0.22134	3.54;3.54;2.78;1.97	4.51	4.51	0.55191	.	0.617926	0.14370	N	0.323835	T	0.24084	0.0583	L	0.54323	1.7	0.41967	D	0.990735	P;P;P;P	0.47191	0.627;0.694;0.891;0.883	B;B;P;B	0.48227	0.188;0.296;0.571;0.368	T	0.03148	-1.1067	10	0.27785	T	0.31	-1.914	5.5124	0.16888	0.6527:0.177:0.0:0.1703	.	1069;125;1073;1073	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	P	1073;1073;932;397;125	ENSP00000255324:T1073P;ENSP00000371346:T1073P;ENSP00000388892:T397P;ENSP00000344776:T125P	ENSP00000255324:T1073P	T	+	1	0	RNF17	24323606	0.036000	0.19791	0.746000	0.31095	0.752000	0.42762	0.614000	0.24314	2.002000	0.58637	0.482000	0.46254	ACA	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044217.1		+	ENST00000255324.5	Missense_Mutation	SNP	13 : 25425606 - 25425606 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	54
SLX4	84464	broad.mit.edu	37	16	3646371	3646371	+	Silent	SNP	C	C	T	rs141687678	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3646371C>T	ENST00000294008.3	-	8	2347	c.1707G>A	c.(1705-1707)ccG>ccA	p.P569P		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	569	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GCACCAGAGGCGGCACGGGCT	0.627		NA						Direct reversal of damage					C	5	0.0023	0.01	NA	2184	NA	0.9984	,	,	NA	3e-04	NA	NA	NA	0.0019	0.6988	LOWCOV	NA	NA	0.0016	SNP								NA				0								C		3,4375		0,3,2186	15	16	16		1707	-4.1	0	16	dbSNP_134	16	0,8592		0,0,4296	no	coding-synonymous	SLX4	NM_032444.2		0,3,6482	TT,TC,CC	NA	0.0,0.0685,0.0231		569/1835	3646371	3,12967	2189	4296	6485	SO:0001819	synonymous_variant			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827	84464	84464		Fanconi anemia, complementation groups, BTB/POZ domain containing	23845	protein-coding gene	gene with protein product	Fanconi anemia, complementation group P	613278	BTB (POZ) domain containing 12, SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)	BTBD12	NA	11347906, 19595721	Standard	NM_032444	NM_032444	NA	Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.1707G>A	16.37:g.3646371C>T		NA	Q69YT8|Q8TF15|Q96JP1	37	CCDS10506.2																																																																																			SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157301.3		-	ENST00000294008.3	Silent	SNP	16 : 3646371 - 3646371 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	65	9
DFNA5	1687	broad.mit.edu	37	7	24749866	24749866	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24749866C>T	ENST00000342947.3	-	6	1264	c.839G>A	c.(838-840)gGa>gAa	p.G280E	DFNA5_ENST00000545231.1_Missense_Mutation_p.G116E|DFNA5_ENST00000419307.1_Missense_Mutation_p.G116E|DFNA5_ENST00000409970.1_Missense_Mutation_p.G116E|DFNA5_ENST00000409775.3_Missense_Mutation_p.G280E|DFNA5_ENST00000559637.1_5'UTR	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	280					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						ACTTAATGGTCCATCCTGGGA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(78;184 1250 20134 20900 23600)							NA				0													142	132	135			NA	NA	7		NA											NA				24749866		2203	4300	6503	SO:0001583	missense			AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928	1687	1687			2810	protein-coding gene	gene with protein product		608798			NA	8589696, 9450185	Standard	NM_004403	NM_004403	NA	Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.839G>A	7.37:g.24749866C>T	ENSP00000339587:p.Gly280Glu	NA	A4D156|B2RAX9|O14590|Q08AQ8|Q9UBV3	37	CCDS5389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.35|10.35	1.326027|1.326027	0.24080|0.24080	.|.	.|.	ENSG00000105928|ENSG00000105928	ENST00000415480;ENST00000446822|ENST00000342947;ENST00000419307;ENST00000545231;ENST00000409970;ENST00000409775	.|T;T;T;T;T	.|0.20881	.|2.04;2.04;2.04;2.04;2.04	5.21|5.21	0.259|0.259	0.15583|0.15583	.|.	.|0.852240	.|0.10510	.|N	.|0.666302	T|T	0.11922|0.11922	0.0290|0.0290	L|L	0.35723|0.35723	1.085|1.085	0.09310|0.09310	N|N	1|1	.|B	.|0.24768	.|0.111	.|B	.|0.24701	.|0.055	T|T	0.39251|0.39251	-0.9623|-0.9623	5|10	.|0.02654	.|T	.|1	-1.1998|-1.1998	4.7256|4.7256	0.12939|0.12939	0.0:0.3958:0.2779:0.3263|0.0:0.3958:0.2779:0.3263	.|.	.|280	.|O60443	.|DFNA5_HUMAN	N|E	69;105|280;116;116;116;280	.|ENSP00000339587:G280E;ENSP00000401332:G116E;ENSP00000442661:G116E;ENSP00000387119:G116E;ENSP00000386670:G280E	.|ENSP00000339587:G280E	D|G	-|-	1|2	0|0	DFNA5|DFNA5	24716391|24716391	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.030000|0.030000	0.12068|0.12068	-0.163000|-0.163000	0.09997|0.09997	-0.270000|-0.270000	0.09285|0.09285	-0.302000|-0.302000	0.09304|0.09304	GAC|GGA	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214060.2		-	ENST00000342947.3	Missense_Mutation	SNP	7 : 24749866 - 24749866 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	604	84
FRMD4A	55691	broad.mit.edu	37	10	13743470	13743470	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13743470A>G	ENST00000357447.2	-	14	1213	c.845T>C	c.(844-846)gTg>gCg	p.V282A	FRMD4A_ENST00000378503.1_Missense_Mutation_p.V282A|FRMD4A_ENST00000492155.1_5'UTR|FRMD4A_ENST00000358621.4_Missense_Mutation_p.V267A|FRMD4A_ENST00000342409.2_Missense_Mutation_p.V298A	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	282	FERM.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CCTCCTTGTCACTGAAGCCCT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	132	137			NA	NA	10		NA											NA				13743470		2203	4300	6503	SO:0001583	missense			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474	55691	55691			25491	protein-coding gene	gene with protein product			FERM domain containing 4	FRMD4	NA	10718198	Standard	NM_018027	NM_018027	NA	Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.845T>C	10.37:g.13743470A>G	ENSP00000350032:p.Val282Ala	NA	A7E2Y3|Q5T377	37	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	A	16.97	3.268444	0.59540	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546;ENST00000342409	D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.75;-1.76	5.34	5.34	0.76211	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.81541	0.4844	L	0.38531	1.155	0.80722	D	1	B;B;P	0.42123	0.106;0.234;0.771	B;B;P	0.44422	0.147;0.135;0.449	T	0.78753	-0.2081	10	0.19590	T	0.45	-18.9258	15.6255	0.76851	1.0:0.0:0.0:0.0	.	298;315;282	Q5T378;Q5T376;Q9P2Q2	.;.;FRM4A_HUMAN	A	267;282;282;315;298	ENSP00000351438:V267A;ENSP00000350032:V282A;ENSP00000367764:V282A;ENSP00000264546:V315A;ENSP00000344237:V298A	ENSP00000264546:V315A	V	-	2	0	FRMD4A	13783476	1.000000	0.71417	0.996000	0.52242	0.658000	0.38924	9.339000	0.96797	2.144000	0.66660	0.533000	0.62120	GTG	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046889.1		-	ENST00000357447.2	Missense_Mutation	SNP	10 : 13743470 - 13743470 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	428	85
ZNF385D	79750	broad.mit.edu	37	3	21478500	21478500	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:21478500G>T	ENST00000281523.2	-	5	1153	c.635C>A	c.(634-636)gCt>gAt	p.A212D		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	212						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						AGAGTTGACAGCAACCTTGCA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	133	143			NA	NA	3		NA											NA				21478500		2203	4300	6503	SO:0001583	missense			BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789	79750	79750			26191	protein-coding gene	gene with protein product			zinc finger protein 659	ZNF659	NA	12477932	Standard	NM_024697	NM_024697	NA	Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.635C>A	3.37:g.21478500G>T	ENSP00000281523:p.Ala212Asp	NA		37	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	G	33	5.215996	0.95104	.	.	ENSG00000151789	ENST00000281523	T	0.21543	2.0	6.09	5.19	0.71726	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.44767	0.1309	M	0.70595	2.14	0.80722	D	1	D	0.63046	0.992	D	0.63283	0.913	T	0.24584	-1.0156	10	0.54805	T	0.06	-9.7885	17.5408	0.87846	0.0:0.1232:0.8768:0.0	.	212	Q9H6B1	Z385D_HUMAN	D	212	ENSP00000281523:A212D	ENSP00000281523:A212D	A	-	2	0	ZNF385D	21453504	1.000000	0.71417	0.993000	0.49108	0.999000	0.98932	9.769000	0.98969	2.891000	0.99171	0.655000	0.94253	GCT	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252884.1		-	ENST00000281523.2	Missense_Mutation	SNP	3 : 21478500 - 21478500 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	567	87
DSCAM	1826	broad.mit.edu	37	21	41741044	41741044	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41741044C>T	ENST00000400454.1	-	4	1114	c.637G>A	c.(637-639)Gcc>Acc	p.A213T		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	213	Ig-like C2-type 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AAAAGTCTGGCGCTGTTGCTC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(134;970 1778 1785 21664 32388)							NA				0													86	87	87			NA	NA	21		NA											NA				41741044		1926	4138	6064	SO:0001583	missense			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587	1826	1826		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	3039	protein-coding gene	gene with protein product		602523			NA	9426258	Standard	NM_001389	NM_001271534	NA	Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.637G>A	21.37:g.41741044C>T	ENSP00000383303:p.Ala213Thr	NA	O60468	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	36	5.626471	0.96671	.	.	ENSG00000171587	ENST00000400454	T	0.12255	2.7	6.07	6.07	0.98685	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.40645	0.1125	M	0.74546	2.27	0.53688	D	0.999971	D	0.89917	1.0	D	0.69654	0.965	T	0.02417	-1.1162	10	0.49607	T	0.09	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	213	O60469	DSCAM_HUMAN	T	213	ENSP00000383303:A213T	ENSP00000383303:A213T	A	-	1	0	DSCAM	40662914	1.000000	0.71417	0.769000	0.31535	0.950000	0.60333	7.670000	0.83925	2.885000	0.99019	0.655000	0.94253	GCC	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195029.1		-	ENST00000400454.1	Missense_Mutation	SNP	21 : 41741044 - 41741044 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	330	56
SDC4	6385	broad.mit.edu	37	20	43959025	43959025	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43959025C>A	ENST00000372733.3	-	4	465	c.426G>T	c.(424-426)gaG>gaT	p.E142D	SDC4_ENST00000537976.1_Missense_Mutation_p.E70D	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	142						extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				CCTCCGTTCTCTCAAAGATGT	0.547		NA	T	ROS1	NSCLC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		20	20q12	6385	syndecan 4		E	0													143	116	125			NA	NA	20		NA											NA				43959025		2203	4300	6503	SO:0001583	missense			X67016, D13292	CCDS13350.1	20q12	2010-03-25	2007-02-15		ENSG00000124145	ENSG00000124145	6385	6385		Proteoglycans / Cell Surface : Syndecans	10661	protein-coding gene	gene with protein product	syndecan proteoglycan 4	600017	syndecan 4 (amphiglycan, ryudocan)		NA	7916598, 1500433	Standard	NM_002999	NM_002999	NA	Approved	SYND4, amphiglycan, ryudocan	uc002xnu.3	P31431	OTTHUMG00000033083	ENST00000372733.3:c.426G>T	20.37:g.43959025C>A	ENSP00000361818:p.Glu142Asp	NA	O00773|Q16833|Q53FN9	37	CCDS13350.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439599	0.63067	.	.	ENSG00000124145	ENST00000372733;ENST00000537976	T	0.33865	1.39	5.93	2.97	0.34412	.	0.104334	0.64402	D	0.000003	T	0.45558	0.1348	L	0.53249	1.67	0.39346	D	0.965676	D	0.63046	0.992	P	0.60682	0.878	T	0.31024	-0.9958	10	0.33940	T	0.23	-35.7483	8.0908	0.30799	0.0:0.6743:0.0:0.3257	.	142	P31431	SDC4_HUMAN	D	142;70	ENSP00000361818:E142D	ENSP00000361818:E142D	E	-	3	2	SDC4	43392439	0.942000	0.31987	1.000000	0.80357	0.843000	0.47879	0.009000	0.13219	0.407000	0.25591	-0.126000	0.14955	GAG	SDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080515.1		-	ENST00000372733.3	Missense_Mutation	SNP	20 : 43959025 - 43959025 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	429	93
TTC29	83894	broad.mit.edu	37	4	147861051	147861051	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:147861051G>A	ENST00000513335.1	-	4	274	c.75C>T	c.(73-75)tcC>tcT	p.S25S	RP11-292D4.2_ENST00000515530.1_RNA|TTC29_ENST00000325106.4_5'UTR|TTC29_ENST00000398886.4_Silent_p.S25S			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	0							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGGTCATTTCGGACTACAAAA	0.413		NA											g	3	0.0014	NA	0.0028	2184	0.0035	0.9998	,	,	NA	5e-04	NA	NA	NA	0.0014	0.926	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				0								A		0,3708		0,0,1854	63	67	66			-0.7	0	4		66	4,8170		0,4,4083	no	utr-5	TTC29	NM_031956.2		0,4,5937	AA,AG,GG	NA	0.0489,0.0,0.0337			147861051	4,11878	1854	4087	5941	SO:0001819	synonymous_variant			AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473	83894	83894		Tetratricopeptide (TTC) repeat domain containing	29936	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_031956	NM_031956	NA	Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000513335.1:c.75C>T	4.37:g.147861051G>A		NA	A4GU95|Q9BXB6	37																																																																																				TTC29-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000367023.1		-	ENST00000513335.1	Silent	SNP	4 : 147861051 - 147861051 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	136	26
C4orf21	0	broad.mit.edu	37	4	113538718	113538718	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113538718G>A	ENST00000505019.1	-	6	2605	c.2480C>T	c.(2479-2481)tCt>tTt	p.S827F	C4orf21_ENST00000445203.2_Missense_Mutation_p.S796F|C4orf21_ENST00000309071.5_Missense_Mutation_p.S827F	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN		827										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CTTTAAAATAGAAATGGTATT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	82	82			NA	NA	4		NA											NA				113538718		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000505019.1:c.2480C>T	4.37:g.113538718G>A	ENSP00000424737:p.Ser827Phe	NA	Q9NUJ4	37		.	.	.	.	.	.	.	.	.	.	G	15.52	2.856696	0.51376	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	D;T;T	0.86956	-2.19;1.34;0.91	5.98	4.2	0.49525	.	0.378963	0.23192	N	0.050884	D	0.89220	0.6653	M	0.71581	2.175	0.09310	N	1	D;D	0.65815	0.995;0.977	P;P	0.56216	0.705;0.794	T	0.81936	-0.0705	10	0.87932	D	0	-0.832	6.088	0.19978	0.073:0.134:0.6544:0.1386	.	827;827	Q86YA3;G5EA02	CD021_HUMAN;.	F	827;827;796	ENSP00000424737:S827F;ENSP00000309095:S827F;ENSP00000390505:S796F	ENSP00000309095:S827F	S	-	2	0	C4orf21	113758167	0.074000	0.21230	0.099000	0.21106	0.962000	0.63368	1.023000	0.30065	0.798000	0.33994	0.655000	0.94253	TCT	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000256413.1		-	ENST00000505019.1	Missense_Mutation	SNP	4 : 113538718 - 113538718 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	306	54
NOX3	50508	broad.mit.edu	37	6	155752006	155752006	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:155752006G>A	ENST00000159060.2	-	8	964	c.862C>T	c.(862-864)Cga>Tga	p.R288*		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	288	FAD-binding FR-type.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TGTTGAAATCGCCAGAACCTA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	94	96			NA	NA	6		NA											NA				155752006		2203	4300	6503	SO:0001587	stop_gained			AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771	50508	50508			7890	protein-coding gene	gene with protein product		607105			NA	11376945	Standard		NM_015718	NA	Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.862C>T	6.37:g.155752006G>A	ENSP00000159060:p.Arg288*	NA	Q9HBJ9	37	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	G	37	6.535245	0.97646	.	.	ENSG00000074771	ENST00000159060	.	.	.	5.86	4.97	0.65823	.	0.000000	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.9666	13.3395	0.60537	0.0:0.0:0.5566:0.4434	.	.	.	.	X	288	.	ENSP00000159060:R288X	R	-	1	2	NOX3	155793698	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.617000	0.46385	1.560000	0.49568	0.650000	0.86243	CGA	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042819.1		-	ENST00000159060.2	Nonsense_Mutation	SNP	6 : 155752006 - 155752006 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	350	31
C9orf84	158401	broad.mit.edu	37	9	114500748	114500748	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114500748A>C	ENST00000394777.4	-	8	1164	c.920T>G	c.(919-921)aTa>aGa	p.I307R	C9orf84_ENST00000374283.5_Missense_Mutation_p.I410R|C9orf84_ENST00000374287.3_Missense_Mutation_p.I346R|C9orf84_ENST00000318737.4_Missense_Mutation_p.I346R|C9orf84_ENST00000394779.3_Missense_Mutation_p.I307R			Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	346										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AACAGAAAATATCTTTTTCAA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	90	90			NA	NA	9		NA											NA				114500748		2202	4299	6501	SO:0001583	missense			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181	158401	158401			26535	protein-coding gene	gene with protein product					NA		Standard	NM_173521	XM_005251738	NA	Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000394777.4:c.920T>G	9.37:g.114500748A>C	ENSP00000378257:p.Ile307Arg	NA	Q2M1H8|Q96M73	37		.	.	.	.	.	.	.	.	.	.	A	12.14	1.848526	0.32699	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000374287;ENST00000318737;ENST00000374283	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	4.88	1.21	0.21127	.	0.960710	0.08668	N	0.911433	T	0.46698	0.1406	L	0.32530	0.975	0.09310	N	0.999998	P;P;D;D	0.57571	0.688;0.688;0.958;0.98	B;B;P;P	0.56700	0.246;0.246;0.748;0.804	T	0.32322	-0.9911	10	0.87932	D	0	0.4228	3.1529	0.06494	0.6338:0.0:0.191:0.1751	.	307;410;346;307	A6PVK7;Q5VXU9-2;Q5VXU9;A2A2V3	.;.;CI084_HUMAN;.	R	307;307;346;346;410	ENSP00000378259:I307R;ENSP00000378257:I307R;ENSP00000363405:I346R;ENSP00000322108:I346R;ENSP00000363401:I410R	ENSP00000322108:I346R	I	-	2	0	C9orf84	113540569	0.005000	0.15991	0.000000	0.03702	0.431000	0.31685	0.988000	0.29616	0.112000	0.17975	0.377000	0.23210	ATA	C9orf84-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000316570.1		-	ENST00000394777.4	Missense_Mutation	SNP	9 : 114500748 - 114500748 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	407	71
EMC9	51016	broad.mit.edu	37	14	24608299	24608299	+	Missense_Mutation	SNP	G	G	A	rs140552029	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24608299G>A	ENST00000560403.1	-	5	746	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	EMC9_ENST00000419198.2_Missense_Mutation_p.R183W|EMC9_ENST00000216799.4_Missense_Mutation_p.R183W					ER membrane protein complex subunit 9	NA											NA						CAGTCCTGCCGGATGTCATCA	0.597		NA											g	1	5e-04	0.002	NA	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9049	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0								G	TRP/ARG	15,4391	22.3+/-47.3	0,15,2188	95	89	91		547	5.4	1	14	dbSNP_134	91	0,8600		0,0,4300	yes	missense	FAM158A	NM_016049.3	101	0,15,6488	AA,AG,GG	NA	0.0,0.3404,0.1153	probably-damaging	183/209	24608299	15,12991	2203	4300	6503	SO:0001583	missense			BF346999	CCDS9613.1	14q12	2012-05-30	2012-05-30	2012-05-30	ENSG00000100908	ENSG00000100908	51016	51016			20273	protein-coding gene	gene with protein product			chromosome 14 open reading frame 122, family with sequence similarity 158, member A	C14orf122, FAM158A	NA	22119785	Standard	NM_016049	NM_016049	NA	Approved	CGI-112	uc001wmi.3	Q9Y3B6	OTTHUMG00000028796	ENST00000560403.1:c.325C>T	14.37:g.24608299G>A	ENSP00000454016:p.Arg109Trp	NA		37		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	19.36	3.813538	0.70912	0.003404	0.0	ENSG00000100908	ENST00000419198;ENST00000216799	T;T	0.46819	0.86;0.86	5.4	5.4	0.78164	.	0.119595	0.53938	D	0.000060	T	0.63815	0.2543	L	0.61218	1.895	0.34161	D	0.668649	D	0.89917	1.0	D	0.76071	0.987	T	0.73639	-0.3919	10	0.72032	D	0.01	-19.4384	11.5736	0.50848	0.0:0.0:0.8222:0.1777	.	183	Q9Y3B6	F158A_HUMAN	W	183	ENSP00000403210:R183W;ENSP00000216799:R183W	ENSP00000216799:R183W	R	-	1	2	FAM158A	23678139	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.687000	0.54692	2.797000	0.96272	0.655000	0.94253	CGG	EMC9-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000415518.1		-	ENST00000560403.1	Missense_Mutation	SNP	14 : 24608299 - 24608299 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	482	78
MYO3B	140469	broad.mit.edu	37	2	171225744	171225744	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171225744G>T	ENST00000408978.4	+	9	971	c.828G>T	c.(826-828)aaG>aaT	p.K276N	MYO3B_ENST00000409044.3_Missense_Mutation_p.K276N|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000334231.6_Missense_Mutation_p.K285N	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	276	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GTCTTATTAAGGATTTTGAAA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	130	135			NA	NA	2		NA											NA				171225744		1839	4093	5932	SO:0001583	missense				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909	140469	140469		Myosins / Myosin superfamily : Class III	15576	protein-coding gene	gene with protein product		610040			NA		Standard		NM_001083615	NA	Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.828G>T	2.37:g.171225744G>T	ENSP00000386213:p.Lys276Asn	NA	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	37	CCDS42773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.99|18.99	3.740166|3.740166	0.69304|0.69304	.|.	.|.	ENSG00000071909|ENSG00000071909	ENST00000442690|ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	.|T;T;T;T	.|0.15718	.|2.4;2.4;2.4;2.4	6.06|6.06	2.85|2.85	0.33270|0.33270	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.45856	.|0.1363	M|M	0.89840|0.89840	3.065|3.065	0.44862|0.44862	D|D	0.997871|0.997871	.|D;D;D;D	.|0.89917	.|0.991;0.997;1.0;0.997	.|P;D;D;D	.|0.97110	.|0.86;0.942;1.0;0.914	.|T	.|0.46693	.|-0.9173	.|10	.|0.87932	.|D	.|0	.|.	10.1377|10.1377	0.42717|0.42717	0.3107:0.0:0.6893:0.0|0.3107:0.0:0.6893:0.0	.|.	.|276;276;276;276	.|Q8WXR4-5;B7ZM71;Q8WXR4-4;Q8WXR4	.|.;.;.;MYO3B_HUMAN	X|N	276|276;276;275;285;285	.|ENSP00000386497:K276N;ENSP00000386213:K276N;ENSP00000446237:K285N;ENSP00000335100:K285N	.|ENSP00000314213:K275N	G|K	+|+	1|3	0|2	MYO3B|MYO3B	170933990|170933990	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.400000|2.400000	0.44504|0.44504	0.272000|0.272000	0.22027|0.22027	-0.145000|-0.145000	0.13849|0.13849	GGA|AAG	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333410.1		+	ENST00000408978.4	Missense_Mutation	SNP	2 : 171225744 - 171225744 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	410	104
FKBP10	60681	broad.mit.edu	37	17	39977920	39977920	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39977920G>T	ENST00000321562.4	+	9	1518	c.1414G>T	c.(1414-1416)Ggc>Tgc	p.G472C	FKBP10_ENST00000544340.1_Missense_Mutation_p.G245C	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	472	PPIase FKBP-type 4.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		GGGAGTCCCAGGCAGTGCTGT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	104	107			NA	NA	17		NA											NA				39977920		2203	4300	6503	SO:0001583	missense			AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756	60681	60681		EF-hand domain containing	18169	protein-coding gene	gene with protein product		607063	FK506 binding protein 10 (65 kDa)		NA	11071917, 18786928	Standard	NM_021939	NM_021939	NA	Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.1414G>T	17.37:g.39977920G>T	ENSP00000317232:p.Gly472Cys	NA	Q7Z3R4|Q9H3N3|Q9H6N5|Q9UF89	37	CCDS11409.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.83|17.83	3.485740|3.485740	0.63962|0.63962	.|.	.|.	ENSG00000141756|ENSG00000141756	ENST00000269598;ENST00000321562;ENST00000414352;ENST00000544340|ENST00000455106	T;T|.	0.56444|.	0.46;0.46|.	5.42|5.42	5.42|5.42	0.78866|0.78866	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);|.	0.153182|.	0.42053|.	D|.	0.000771|.	D|D	0.84973|0.84973	0.5591|0.5591	M|M	0.92367|0.92367	3.3|3.3	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.998|.	D;D|.	0.83275|.	0.996;0.967|.	D|D	0.88415|0.88415	0.3024|0.3024	10|5	0.52906|.	T|.	0.07|.	-18.8789|-18.8789	14.788|14.788	0.69819|0.69819	0.0:0.144:0.856:0.0|0.0:0.144:0.856:0.0	.|.	245;472|.	Q9H6J3;Q96AY3|.	.;FKB10_HUMAN|.	C|H	360;472;472;245|275	ENSP00000317232:G472C;ENSP00000442009:G245C|.	ENSP00000269598:G360C|.	G|Q	+|+	1|3	0|2	FKBP10|FKBP10	37231446|37231446	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.680000|0.680000	0.39746|0.39746	3.264000|3.264000	0.51553|0.51553	2.550000|2.550000	0.86006|0.86006	0.455000|0.455000	0.32223|0.32223	GGC|CAG	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257410.2		+	ENST00000321562.4	Missense_Mutation	SNP	17 : 39977920 - 39977920 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	453	71
KLHL24	54800	broad.mit.edu	37	3	183390145	183390145	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183390145A>G	ENST00000454652.2	+	8	1861	c.1475A>G	c.(1474-1476)aAa>aGa	p.K492R	KLHL24_ENST00000476808.1_Missense_Mutation_p.K492R|KLHL24_ENST00000242810.6_Missense_Mutation_p.K492R	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	NA						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			CCAATTGCCAAAAGGTGTATA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	98	105			NA	NA	3		NA											NA				183390145		2203	4300	6503	SO:0001583	missense				CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796	54800	54800		Kelch-like, BTB/POZ domain containing	25947	protein-coding gene	gene with protein product		611295	kelch-like 24 (Drosophila)		NA		Standard	NM_017644	XM_005247552	NA	Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.1475A>G	3.37:g.183390145A>G	ENSP00000395012:p.Lys492Arg	NA	A5PLN8|Q9H620|Q9NXT9	37	CCDS3246.1	.	.	.	.	.	.	.	.	.	.	A	15.96	2.985839	0.53934	.	.	ENSG00000114796	ENST00000242810;ENST00000454652;ENST00000476808	T;T;T	0.56103	0.48;0.48;0.48	5.9	5.9	0.94986	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.46347	0.1388	N	0.04162	-0.26	0.80722	D	1	D;B	0.56035	0.974;0.025	D;B	0.67725	0.953;0.023	T	0.44421	-0.9329	10	0.02654	T	1	.	16.3291	0.83001	1.0:0.0:0.0:0.0	.	492;492	Q6TFL4-2;Q6TFL4	.;KLH24_HUMAN	R	492	ENSP00000242810:K492R;ENSP00000395012:K492R;ENSP00000419010:K492R	ENSP00000242810:K492R	K	+	2	0	KLHL24	184872839	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.257000	0.74773	0.528000	0.53228	AAA	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346586.2		+	ENST00000454652.2	Missense_Mutation	SNP	3 : 183390145 - 183390145 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	538	99
UBR4	23352	broad.mit.edu	37	1	19525329	19525329	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19525329C>T	ENST00000375254.3	-	4	499	c.472G>A	c.(472-474)Gcc>Acc	p.A158T	UBR4_ENST00000375217.2_Missense_Mutation_p.A158T|UBR4_ENST00000375226.2_Missense_Mutation_p.A158T|UBR4_ENST00000375267.2_Missense_Mutation_p.A158T	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	158					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGCAGCTTGGCGGATTTCATC	0.468		NA											C	1	5e-04	NA	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	4e-04	SNP								NA				0								C	THR/ALA	0,4406		0,0,2203	141	140	140		472	5.4	1	1		140	1,8599	1.2+/-3.3	0,1,4299	no	missense	UBR4	NM_020765.2	58	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	possibly-damaging	158/5184	19525329	1,13005	2203	4300	6503	SO:0001583	missense			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481	23352	23352		Ubiquitin protein ligase E3 component n-recognins	30313	protein-coding gene	gene with protein product		609890	zinc finger, UBR1 type 1	ZUBR1	NA	14702039, 10718198, 16055722	Standard	NM_020765	XM_005245802	NA	Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.472G>A	1.37:g.19525329C>T	ENSP00000364403:p.Ala158Thr	NA	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	37	CCDS189.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	23.2	4.384119	0.82792	0.0	1.16E-4	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.28255	1.64;1.63;1.62;1.62	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.20047	0.0482	L	0.38175	1.15	0.80722	D	1	P	0.43431	0.807	B	0.26614	0.071	T	0.06356	-1.0831	10	0.66056	D	0.02	.	12.8274	0.57726	0.1632:0.8367:0.0:0.0	.	158	Q5T4S7	UBR4_HUMAN	T	158	ENSP00000364403:A158T;ENSP00000364416:A158T;ENSP00000364365:A158T;ENSP00000364374:A158T	ENSP00000364365:A158T	A	-	1	0	UBR4	19397916	1.000000	0.71417	0.973000	0.42090	0.970000	0.65996	5.885000	0.69736	2.536000	0.85505	0.563000	0.77884	GCC	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007085.1		-	ENST00000375254.3	Missense_Mutation	SNP	1 : 19525329 - 19525329 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	610	53
KSR1	8844	broad.mit.edu	37	17	25932780	25932780	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25932780G>A	ENST00000398988.3	+	16	2035	c.1590G>A	c.(1588-1590)gaG>gaA	p.E530E	KSR1_ENST00000268763.6_Silent_p.E530E|KSR1_ENST00000509603.2_Silent_p.E645E|KSR1_ENST00000319524.6_Silent_p.E667E	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	665					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CGCGGCATGAGAACGTGGTGC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(88;1120 1336 6324 10502 16832)							NA				0													20	22	21			NA	NA	17		NA											NA				25932780		2044	4187	6231	SO:0001819	synonymous_variant			U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068	8844	8844			6465	protein-coding gene	gene with protein product		601132	kinase suppressor of ras	KSR	NA	8521512	Standard	NM_014238	XM_006722151	NA	Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000398988.3:c.1590G>A	17.37:g.25932780G>A		NA	Q13476	37	CCDS58532.1	.	.	.	.	.	.	.	.	.	.	G	8.744	0.919764	0.17982	.	.	ENSG00000141068	ENST00000398988	T	0.79454	-1.27	5.67	3.7	0.42460	.	0.000000	0.85682	D	0.000000	T	0.73984	0.3657	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66019	-0.6027	7	0.18710	T	0.47	.	11.3617	0.49646	0.1457:0.0:0.8543:0.0	.	.	.	.	K	381	ENSP00000381958:E381K	ENSP00000381958:E381K	E	+	1	0	KSR1	22956907	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	5.664000	0.68045	0.768000	0.33290	-0.140000	0.14226	GAA	KSR1-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255074.2		+	ENST00000398988.3	Silent	SNP	17 : 25932780 - 25932780 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	155	28
PSMA1	5682	broad.mit.edu	37	11	14535242	14535242	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14535242T>C	ENST00000530457.1	-	7	873	c.343A>G	c.(343-345)Atg>Gtg	p.M115V	PSMA1_ENST00000396394.2_Missense_Mutation_p.M140V|PSMA1_ENST00000396393.1_Missense_Mutation_p.M140V|PSMA1_ENST00000555531.1_Missense_Mutation_p.I120M|PSMA1_ENST00000419365.2_Missense_Mutation_p.I120M|PSMA1_ENST00000418988.2_Missense_Mutation_p.M146V			P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	140					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						TGAGGGCCCATATCCTACAAA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	65	64			NA	NA	11		NA											NA				14535242		2200	4294	6494	SO:0001583	missense			X61969	CCDS7816.1, CCDS31431.1	11p15.1	2005-10-10			ENSG00000129084	ENSG00000129084	5682	5682		Proteasome (prosome, macropain) subunits	9530	protein-coding gene	gene with protein product		602854			NA	1398136, 2025653	Standard	NM_002786	NM_148976	NA	Approved	HC2, NU, PROS30, MGC14542, MGC14575, MGC14751, MGC1667, MGC21459, MGC22853, MGC23915	uc001mlk.3	P25786	OTTHUMG00000165825	ENST00000530457.1:c.343A>G	11.37:g.14535242T>C	ENSP00000441166:p.Met115Val	NA	A8K400|Q9BRV9	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.7|23.7	4.444090|4.444090	0.83993|0.83993	.|.	.|.	ENSG00000129084|ENSG00000129084	ENST00000419365|ENST00000396394;ENST00000396393;ENST00000530457;ENST00000418988	T|T;T;T;T	0.46063|0.20881	0.88|2.04;2.04;2.04;2.04	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.15392|0.15392	0.0371|0.0371	N|N	0.17474|0.17474	0.49|0.49	0.31237|0.31237	N|N	0.695602|0.695602	.|B;B	.|0.11235	.|0.001;0.004	.|B;B	.|0.11329	.|0.004;0.006	T|T	0.06844|0.06844	-1.0804|-1.0804	7|10	0.51188|0.27082	T|T	0.08|0.32	-11.1186|-11.1186	16.4696|16.4696	0.84102|0.84102	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|146;140	.|P25786-2;P25786	.|.;PSA1_HUMAN	M|V	120|140;140;115;146	ENSP00000392242:I120M|ENSP00000379676:M140V;ENSP00000379675:M140V;ENSP00000441166:M115V;ENSP00000414359:M146V	ENSP00000392242:I120M|ENSP00000379675:M140V	I|M	-|-	3|1	3|0	PSMA1|PSMA1	14491818|14491818	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	7.239000|7.239000	0.78182|0.78182	2.289000|2.289000	0.77006|0.77006	0.482000|0.482000	0.46254|0.46254	ATA|ATG	PSMA1-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000386962.2		-	ENST00000530457.1	Missense_Mutation	SNP	11 : 14535242 - 14535242 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	416	80
BSN	8927	broad.mit.edu	37	3	49680444	49680444	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49680444G>A	ENST00000296452.4	+	3	1491	c.1377G>A	c.(1375-1377)ccG>ccA	p.P459P		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	459					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGACCATGCCGAAGGAAAGGG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	53	56			NA	NA	3		NA											NA				49680444		2203	4300	6503	SO:0001819	synonymous_variant			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061	8927	8927			1117	protein-coding gene	gene with protein product	zinc finger protein 231, neuronal double zinc finger protein	604020	bassoon (presynaptic cytomatrix protein)	ZNF231	NA	9806829, 10329005	Standard	NM_003458	NM_003458	NA	Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.1377G>A	3.37:g.49680444G>A		NA	O43161|Q7LGH3	37	CCDS2800.1																																																																																			BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258164.1		+	ENST00000296452.4	Silent	SNP	3 : 49680444 - 49680444 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	224	29
APP	351	broad.mit.edu	37	21	27354787	27354787	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27354787G>T	ENST00000357903.3	-	8	1203	c.1037C>A	c.(1036-1038)cCt>cAt	p.P346H	APP_ENST00000448388.2_Missense_Mutation_p.P255H|APP_ENST00000346798.3_Missense_Mutation_p.P365H|APP_ENST00000354192.3_Missense_Mutation_p.P234H|APP_ENST00000439274.2_Missense_Mutation_p.P309H|APP_ENST00000348990.5_Missense_Mutation_p.P290H|APP_ENST00000358918.3_Missense_Mutation_p.P365H|APP_ENST00000440126.3_Missense_Mutation_p.P341H|APP_ENST00000359726.3_Missense_Mutation_p.P309H	NM_201413.2	NP_958816.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	365					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TGCTGTTGTAGGAACTATAAA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	53	54			NA	NA	21		NA											NA				27354787		2203	4300	6503	SO:0001583	missense			M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192	351	351		Endogenous ligands	620	protein-coding gene	gene with protein product	peptidase nexin-II	104760	Alzheimer disease	AD1	NA	1679289	Standard	NM_000484	NM_001136130	NA	Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000357903.3:c.1037C>A	21.37:g.27354787G>T	ENSP00000350578:p.Pro346His	NA	B2R5V1|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	37	CCDS33523.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135759	0.77662	.	.	ENSG00000142192	ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274	D;T;T;D;D;D;T;D;D	0.96913	-2.24;0.94;0.94;-2.24;-2.07;-4.17;0.94;-2.24;-2.22	5.45	4.57	0.56435	.	0.000000	0.85682	D	0.000000	D	0.97353	0.9134	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.97;1.0;0.988;1.0;0.963;0.985;1.0	P;D;P;D;P;P;D	0.97110	0.797;1.0;0.866;0.997;0.694;0.694;0.999	D	0.96487	0.9361	10	0.18276	T	0.48	-8.6512	14.2738	0.66167	0.0719:0.0:0.9281:0.0	.	255;309;341;234;290;346;365	E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067	.;.;.;.;.;.;A4_HUMAN	H	365;234;290;346;365;309;255;341;309	ENSP00000284981:P365H;ENSP00000346129:P234H;ENSP00000345463:P290H;ENSP00000350578:P346H;ENSP00000351796:P365H;ENSP00000352760:P309H;ENSP00000388538:P255H;ENSP00000387483:P341H;ENSP00000398879:P309H	ENSP00000284981:P365H	P	-	2	0	APP	26276658	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	9.263000	0.95617	1.540000	0.49301	0.655000	0.94253	CCT	APP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000171337.2		-	ENST00000357903.3	Missense_Mutation	SNP	21 : 27354787 - 27354787 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	283	50
FBN1	2200	broad.mit.edu	37	15	48905247	48905247	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48905247A>G	ENST00000316623.5	-	3	662	c.207T>C	c.(205-207)ccT>ccC	p.P69P		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	69					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTTTCCATCCAGGGCAACAGT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	140	141			NA	NA	15		NA											NA				48905247		2197	4296	6493	SO:0001819	synonymous_variant			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147	2200	2200			3603	protein-coding gene	gene with protein product	Marfan syndrome	134797	fibrillin 1 (Marfan syndrome)	FBN, MFS1, WMS	NA	10036187, 12525539	Standard		NM_000138	NA	Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.207T>C	15.37:g.48905247A>G		NA	B2RUU0|Q15972|Q75N87	37	CCDS32232.1																																																																																			FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417355.1		-	ENST00000316623.5	Silent	SNP	15 : 48905247 - 48905247 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	486	87
CDKL5	6792	broad.mit.edu	37	X	18671647	18671647	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18671647G>A	ENST00000379989.3	+	22	3361	c.3076G>A	c.(3076-3078)Gca>Aca	p.A1026T	RS1_ENST00000379984.3_Intron|CDKL5_ENST00000379996.3_Missense_Mutation_p.A1026T	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	1026					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TGAGAATGCGGCACTGACGGG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	45	50			NA	NA	X		NA											NA				18671647		2203	4300	6503	SO:0001583	missense			Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086	6792	6792		Cyclin-dependent kinases	11411	protein-coding gene	gene with protein product		300203	serine/threonine kinase 9	STK9	NA	9721213, 16935860	Standard	NM_003159	XM_005274584	NA	Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.3076G>A	X.37:g.18671647G>A	ENSP00000369325:p.Ala1026Thr	NA	Q14198|Q5H985|Q8IYC7|Q9UJL6	37	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769422	0.49680	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.71222	-0.55;-0.55	4.32	-0.897	0.10553	.	1.488660	0.04571	N	0.393227	T	0.48429	0.1499	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38351	-0.9665	10	0.87932	D	0	-0.0154	3.5465	0.07831	0.5001:0.0:0.3104:0.1895	.	1026	O76039	CDKL5_HUMAN	T	1026	ENSP00000369332:A1026T;ENSP00000369325:A1026T	ENSP00000369325:A1026T	A	+	1	0	CDKL5	18581568	0.364000	0.24997	0.000000	0.03702	0.001000	0.01503	0.673000	0.25203	-0.349000	0.08274	-0.191000	0.12829	GCA	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055945.2		+	ENST00000379989.3	Missense_Mutation	SNP	X : 18671647 - 18671647 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	112	31
PIGB	9488	broad.mit.edu	37	15	55613553	55613553	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55613553C>A	ENST00000164305.5	+	3	673	c.382C>A	c.(382-384)Ctt>Att	p.L128I	PIGB_ENST00000539642.1_Intron	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	128					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		TTACAAGATTCTTCATCTTTT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	83	84			NA	NA	15		NA											NA				55613553		1817	4077	5894	SO:0001583	missense			D42138	CCDS61641.1	15q21.3	2013-02-26	2006-06-28		ENSG00000069943	ENSG00000069943	9488	9488		Dolichyl D-mannosyl phosphate dependent mannosyltransferases, Phosphatidylinositol glycan anchor biosynthesis	8959	protein-coding gene	gene with protein product	GPI mannosyltransferase 3, dol-P-Man dependent GPI mannosyltransferase	604122	phosphatidylinositol glycan, class B		NA	8861954	Standard	NM_004855	NM_004855	NA	Approved		uc002act.3	Q92521	OTTHUMG00000172654	ENST00000164305.5:c.382C>A	15.37:g.55613553C>A	ENSP00000164305:p.Leu128Ile	NA	Q53FF9|Q8WVN7	37		.	.	.	.	.	.	.	.	.	.	C	17.14	3.314419	0.60524	.	.	ENSG00000069943	ENST00000164305	T	0.66638	-0.22	4.77	3.85	0.44370	.	0.000000	0.64402	D	0.000003	T	0.78984	0.4370	M	0.80183	2.485	0.80722	D	1	D	0.65815	0.995	D	0.68943	0.961	T	0.78981	-0.1989	10	0.49607	T	0.09	-8.4769	9.1361	0.36875	0.0:0.9004:0.0:0.0996	.	128	Q92521	PIGB_HUMAN	I	128	ENSP00000164305:L128I	ENSP00000164305:L128I	L	+	1	0	PIGB	53400845	0.924000	0.31332	0.999000	0.59377	0.980000	0.70556	0.935000	0.28924	1.223000	0.43536	0.650000	0.86243	CTT	PIGB-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000419687.1		+	ENST00000164305.5	Missense_Mutation	SNP	15 : 55613553 - 55613553 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	80	16
GFPT2	9945	broad.mit.edu	37	5	179743450	179743450	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179743450A>C	ENST00000253778.8	-	13	1333	c.1164T>G	c.(1162-1164)gtT>gtG	p.V388V		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	388	SIS 1.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GTTCCTCCAAAACTTGCCGCG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	81	82			NA	NA	5		NA											NA				179743450		2032	4211	6243	SO:0001819	synonymous_variant			AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459	9945	9945			4242	protein-coding gene	gene with protein product	glutamine: fructose-6-phosphate aminotransferase 2	603865			NA	10198162	Standard	NM_005110	NM_005110	NA	Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.1164T>G	5.37:g.179743450A>C		NA	Q53XM2|Q9BWS4	37	CCDS43411.1																																																																																			GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373444.4		-	ENST00000253778.8	Silent	SNP	5 : 179743450 - 179743450 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	225	35
LMAN1L	79748	broad.mit.edu	37	15	75114202	75114202	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75114202C>T	ENST00000309664.5	+	10	1231	c.1092C>T	c.(1090-1092)acC>acT	p.T364T	LMAN1L_ENST00000379709.3_Silent_p.T352T|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	364						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCCATCCACCCCAGGGAGGG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	73	74			NA	NA	15		NA											NA				75114202		2197	4296	6493	SO:0001819	synonymous_variant			AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506	79748	79748			6632	protein-coding gene	gene with protein product		609548			NA	11255007	Standard		NM_021819	NA	Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.1092C>T	15.37:g.75114202C>T		NA	Q6UWN2	37	CCDS10270.1																																																																																			LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286397.4		+	ENST00000309664.5	Silent	SNP	15 : 75114202 - 75114202 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	508	87
ASPM	259266	broad.mit.edu	37	1	197072533	197072533	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197072533C>A	ENST00000367409.4	-	18	6104	c.5848G>T	c.(5848-5850)Gcg>Tcg	p.A1950S	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1950	IQ 12.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACCAGTACCGCATGACGGAGT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													221	215	217			NA	NA	1		NA											NA				197072533		2203	4300	6503	SO:0001583	missense			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279	259266	259266			19048	protein-coding gene	gene with protein product		605481	microcephaly, primary autosomal recessive 5, asp (abnormal spindle)-like, microcephaly associated (Drosophila)	MCPH5	NA	11078481	Standard	NM_018136	NM_018136	NA	Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5848G>T	1.37:g.197072533C>A	ENSP00000356379:p.Ala1950Ser	NA	Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.473039	0.26423	.	.	ENSG00000066279	ENST00000367409	T	0.70516	-0.49	5.62	4.71	0.59529	.	0.240301	0.35013	N	0.003508	T	0.59569	0.2203	L	0.45470	1.425	0.37067	D	0.898363	B	0.22909	0.077	B	0.21360	0.034	T	0.60566	-0.7238	10	0.40728	T	0.16	.	6.0909	0.19993	0.2775:0.5876:0.0:0.1349	.	1950	Q8IZT6	ASPM_HUMAN	S	1950	ENSP00000356379:A1950S	ENSP00000356379:A1950S	A	-	1	0	ASPM	195339156	0.133000	0.22466	0.040000	0.18447	0.002000	0.02628	0.843000	0.27640	1.372000	0.46190	-0.158000	0.13435	GCG	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088256.1		-	ENST00000367409.4	Missense_Mutation	SNP	1 : 197072533 - 197072533 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1214	311
ERO1LB	56605	broad.mit.edu	37	1	236399130	236399130	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236399130C>T	ENST00000354619.5	-	8	833	c.632G>A	c.(631-633)cGa>cAa	p.R211Q		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	211					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			ATAAACAGATCGAGGCCTGAA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	69	68			NA	NA	1		NA											NA				236399130		2202	4300	6502	SO:0001583	missense			AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619	56605	56605			14355	protein-coding gene	gene with protein product		615437			NA	10818100	Standard	NM_019891	NM_019891	NA	Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.632G>A	1.37:g.236399130C>T	ENSP00000346635:p.Arg211Gln	NA	Q5T1H4|Q8IZ11|Q9NR62	37	CCDS31064.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.474928	0.43942	.	.	ENSG00000086619	ENST00000354619	T	0.41758	0.99	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.24198	0.0586	N	0.05306	-0.075	0.80722	D	1	B	0.22080	0.064	B	0.20955	0.032	T	0.16660	-1.0395	10	0.06236	T	0.91	-11.014	20.2366	0.98359	0.0:1.0:0.0:0.0	.	211	Q86YB8	ERO1B_HUMAN	Q	211	ENSP00000346635:R211Q	ENSP00000346635:R211Q	R	-	2	0	ERO1LB	234465753	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.133000	0.77259	2.792000	0.96026	0.557000	0.71058	CGA	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096371.1		-	ENST00000354619.5	Missense_Mutation	SNP	1 : 236399130 - 236399130 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	8
N4BP2	55728	broad.mit.edu	37	4	40122738	40122738	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40122738C>T	ENST00000261435.6	+	9	3423	c.3007C>T	c.(3007-3009)Cct>Tct	p.P1003S		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1003						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AGAGCAAATGCCTAAGAGAGA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	63	63			NA	NA	4		NA											NA				40122738		2203	4300	6503	SO:0001583	missense			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177	55728	55728			29851	protein-coding gene	gene with protein product	BCL-3 binding protein				NA	10718198, 11717310	Standard	NM_018177	NM_018177	NA	Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.3007C>T	4.37:g.40122738C>T	ENSP00000261435:p.Pro1003Ser	NA	A0AVR3|Q9NVK2|Q9P2D4	37	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.015|0.015	-1.566015|-1.566015	0.00903|0.00903	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000513269|ENST00000261435;ENST00000381804	.|T	.|0.19105	.|2.17	6.02|6.02	-3.81|-3.81	0.04294|0.04294	.|.	.|1.432000	.|0.03800	.|N	.|0.264223	T|T	0.11153|0.11153	0.0272|0.0272	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|B;B	.|0.11235	.|0.004;0.003	.|B;B	.|0.12156	.|0.007;0.003	T|T	0.18618|0.18618	-1.0331|-1.0331	5|10	.|0.18276	.|T	.|0.48	0.3197|0.3197	1.666|1.666	0.02802|0.02802	0.2159:0.2675:0.099:0.4175|0.2159:0.2675:0.099:0.4175	.|.	.|1003;1003	.|Q86UW6-2;Q86UW6	.|.;N4BP2_HUMAN	V|S	649|1003;923	.|ENSP00000261435:P1003S	.|ENSP00000261435:P1003S	A|P	+|+	2|1	0|0	N4BP2|N4BP2	39799133|39799133	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.930000|-0.930000	0.03972|0.03972	-1.381000|-1.381000	0.02112|0.02112	-0.140000|-0.140000	0.14226|0.14226	GCC|CCT	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250458.2		+	ENST00000261435.6	Missense_Mutation	SNP	4 : 40122738 - 40122738 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	33
LAMB4	22798	broad.mit.edu	37	7	107706353	107706353	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107706353C>T	ENST00000388781.3	-	21	2773	c.2690G>A	c.(2689-2691)gGt>gAt	p.G897D	LAMB4_ENST00000388780.3_Missense_Mutation_p.G897D|LAMB4_ENST00000205386.4_Missense_Mutation_p.G897D	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	897	Laminin EGF-like 8.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCCATAGTAACCATCAATACA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	120	121			NA	NA	7		NA											NA				107706353		2203	4300	6503	SO:0001583	missense			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128	22798	22798		Laminins	6491	protein-coding gene	gene with protein product					NA		Standard	XM_209857	NM_007356	NA	Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.2690G>A	7.37:g.107706353C>T	ENSP00000373433:p.Gly897Asp	NA	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	37	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237985	0.79800	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780	T;T;T	0.68624	-0.34;-0.34;-0.34	4.69	4.69	0.59074	EGF-like, laminin (4);	0.000000	0.52532	D	0.000073	D	0.84179	0.5415	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.86918	0.2065	10	0.72032	D	0.01	.	11.6563	0.51320	0.0:0.9185:0.0:0.0815	.	897	A4D0S4	LAMB4_HUMAN	D	897	ENSP00000205386:G897D;ENSP00000373433:G897D;ENSP00000373432:G897D	ENSP00000205386:G897D	G	-	2	0	LAMB4	107493589	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.535000	0.67173	2.606000	0.88127	0.563000	0.77884	GGT	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337442.1		-	ENST00000388781.3	Missense_Mutation	SNP	7 : 107706353 - 107706353 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	402	80
HS3ST1	9957	broad.mit.edu	37	4	11400937	11400937	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:11400937G>A	ENST00000002596.5	-	2	1867	c.693C>T	c.(691-693)gtC>gtT	p.V231V		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	231						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GGAACCTCTCGACCTTTTGGA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	39	39			NA	NA	4		NA											NA				11400937		2203	4300	6503	SO:0001819	synonymous_variant			AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	9957	9957	2.8.2.23	Sulfotransferases, membrane-bound	5194	protein-coding gene	gene with protein product		603244			NA	9988767	Standard	NM_005114	NM_005114	NA	Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.693C>T	4.37:g.11400937G>A		NA	B3KUA6|Q6PEY8	37	CCDS3408.1																																																																																			HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207073.3		-	ENST00000002596.5	Silent	SNP	4 : 11400937 - 11400937 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	232	32
TCHH	7062	broad.mit.edu	37	1	152085355	152085355	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152085355C>T	ENST00000368804.1	-	2	337	c.338G>A	c.(337-339)cGc>cAc	p.R113H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	113					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTTGCCTGCGATCTTGTAA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													194	184	187			NA	NA	1		NA											NA				152085355		1947	4154	6101	SO:0001583	missense			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450	7062	7062		EF-hand domain containing	11791	protein-coding gene	gene with protein product		190370		THH	NA	1431214	Standard	NM_007113	NM_007113	NA	Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.338G>A	1.37:g.152085355C>T	ENSP00000357794:p.Arg113His	NA	Q5VUI3	37	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	c	7.389	0.630450	0.14322	.	.	ENSG00000159450	ENST00000368804	T	0.05786	3.39	4.71	1.59	0.23543	.	.	.	.	.	T	0.00815	0.0027	N	0.08118	0	0.24988	N	0.991556	P	0.48589	0.912	B	0.36608	0.229	T	0.42832	-0.9428	9	0.48119	T	0.1	-1.9391	1.3116	0.02099	0.1722:0.4464:0.1869:0.1946	.	113	Q07283	TRHY_HUMAN	H	113	ENSP00000357794:R113H	ENSP00000357794:R113H	R	-	2	0	TCHH	150351979	0.001000	0.12720	0.931000	0.37212	0.100000	0.18952	-0.024000	0.12435	0.694000	0.31654	0.552000	0.68991	CGC	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000036671.2		-	ENST00000368804.1	Missense_Mutation	SNP	1 : 152085355 - 152085355 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1284	296
SCN11A	11280	broad.mit.edu	37	3	38962576	38962576	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38962576C>T	ENST00000302328.3	-	6	1081	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	SCN11A_ENST00000456224.3_Missense_Mutation_p.E295K|SCN11A_ENST00000444237.2_Missense_Mutation_p.E295K|SCN11A_ENST00000450244.1_Missense_Mutation_p.E295K	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	295					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)	CCATAAGCTTCCGGGTTACTG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													238	248	245			NA	NA	3		NA											NA				38962576		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.883G>A	3.37:g.38962576C>T	ENSP00000307599:p.Glu295Lys	NA	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	37	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	6.753	0.507760	0.12883	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.96396	-4.0;-4.0;-3.95;-3.86	3.66	-7.31	0.01441	Ion transport (1);	2582.250000	0.00166	N	0.000001	D	0.90130	0.6916	L	0.31476	0.935	0.09310	N	1	B	0.22604	0.072	B	0.23018	0.043	D	0.84111	0.0401	10	0.20519	T	0.43	.	2.0681	0.03607	0.1205:0.1779:0.2383:0.4633	.	295	Q9UI33	SCNBA_HUMAN	K	295	ENSP00000307599:E295K;ENSP00000400945:E295K;ENSP00000416757:E295K;ENSP00000408028:E295K	ENSP00000307599:E295K	E	-	1	0	SCN11A	38937580	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.012000	0.03649	-2.422000	0.00563	0.447000	0.29281	GAA	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109746.4		-	ENST00000302328.3	Missense_Mutation	SNP	3 : 38962576 - 38962576 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1885	332
WNT3	7473	broad.mit.edu	37	17	44845788	44845788	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44845788C>T	ENST00000225512.5	-	4	1128	c.966G>A	c.(964-966)agG>agA	p.R322R		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	322					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GCTTCTCCGTCCTCGTGTTGT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	117	123			NA	NA	17		NA											NA				44845788		2203	4300	6503	SO:0001819	synonymous_variant			AY009397	CCDS11505.1	17q21-q22	2013-02-28				ENSG00000108379	7473	7473		Wingless-type MMTV integration sites, Endogenous ligands	12782	protein-coding gene	gene with protein product	WNT-3 proto-oncogene protein	165330		INT4	NA	8244403	Standard	NM_030753	NM_030753	NA	Approved	MGC131950, MGC138321, MGC138323	uc002ikv.3	P56703		ENST00000225512.5:c.966G>A	17.37:g.44845788C>T		NA	Q2M237|Q9H1J9	37	CCDS11505.1																																																																																			WNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000440427.1		-	ENST00000225512.5	Silent	SNP	17 : 44845788 - 44845788 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	829	175
ANKRD13D	338692	broad.mit.edu	37	11	67066586	67066586	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67066586C>T	ENST00000447274.2	+	7	1703	c.528C>T	c.(526-528)taC>taT	p.Y176Y	ANKRD13D_ENST00000514166.1_Silent_p.Y176Y|ANKRD13D_ENST00000511455.2_Silent_p.Y263Y|ANKRD13D_ENST00000308440.6_Silent_p.Y176Y			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	176										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TTAGCGGCTACGAGGCCAAGG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	104	105			NA	NA	11		NA											NA				67066586		2200	4295	6495	SO:0001819	synonymous_variant			AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932	338692	338692		Ankyrin repeat domain containing	27880	protein-coding gene	gene with protein product		615126			NA		Standard	NM_207354	NM_207354	NA	Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000447274.2:c.528C>T	11.37:g.67066586C>T		NA	Q0VAK0|Q6ZVD0|Q86SU1	37																																																																																				ANKRD13D-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000371067.2		+	ENST00000447274.2	Silent	SNP	11 : 67066586 - 67066586 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	560	101
NLRC5	84166	broad.mit.edu	37	16	57111861	57111861	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57111861C>T	ENST00000262510.6	+	43	5235	c.5010C>T	c.(5008-5010)ggC>ggT	p.G1670G	NLRC5_ENST00000308149.7_Silent_p.G1641G|NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000539144.1_Silent_p.G1641G	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1670					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CCAGGCTTGGCTGCAATGCCC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	43	44			NA	NA	16		NA											NA				57111861		2198	4300	6498	SO:0001819	synonymous_variant			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853	84166	84166		Nucleotide-binding domain and leucine rich repeat containing	29933	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5, NOD-like receptor C5	613537			NA	12615073	Standard	NM_032206	NM_032206	NA	Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.5010C>T	16.37:g.57111861C>T		NA	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	37	CCDS10773.1																																																																																			NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257346.1		+	ENST00000262510.6	Silent	SNP	16 : 57111861 - 57111861 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	243	8
RADIL	55698	broad.mit.edu	37	7	4841394	4841394	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4841394C>T	ENST00000399583.3	-	12	2919	c.2732G>A	c.(2731-2733)gGc>gAc	p.G911D	RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Missense_Mutation_p.G671D	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	911	Pro-rich.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		AGGCTCAGGGCCAAGTGGAGT	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													8	11	10			NA	NA	7		NA											NA				4841394		1875	4062	5937	SO:0001583	missense			AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927	55698	55698			22226	protein-coding gene	gene with protein product		611491			NA	16051602, 17704304	Standard	NM_018059	NM_018059	NA	Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.2732G>A	7.37:g.4841394C>T	ENSP00000382492:p.Gly911Asp	NA	A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	37	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.473350	0.26423	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000538469	T;T	0.06933	3.31;3.24	4.8	2.6	0.31112	.	0.381481	0.27518	N	0.019006	T	0.10508	0.0257	L	0.60455	1.87	0.19575	N	0.999961	P;D	0.54772	0.544;0.968	B;P	0.51135	0.175;0.66	T	0.07908	-1.0748	10	0.07644	T	0.81	-19.2591	5.8629	0.18759	0.3355:0.562:0.0:0.1025	.	911;219	Q96JH8;Q75LH2	RADIL_HUMAN;.	D	911;882;671	ENSP00000382492:G911D;ENSP00000442966:G671D	ENSP00000320946:G882D	G	-	2	0	RADIL	4807920	0.529000	0.26322	0.015000	0.15790	0.022000	0.10575	0.844000	0.27654	0.998000	0.38996	-0.217000	0.12591	GGC	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323769.2		-	ENST00000399583.3	Missense_Mutation	SNP	7 : 4841394 - 4841394 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	127	23
UNC13A	23025	broad.mit.edu	37	19	17752235	17752235	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17752235C>T	ENST00000519716.2	-	21	2602	c.2603G>A	c.(2602-2604)cGc>cAc	p.R868H	UNC13A_ENST00000550896.1_Missense_Mutation_p.R866H|UNC13A_ENST00000252773.7_Missense_Mutation_p.R868H|UNC13A_ENST00000552293.1_Missense_Mutation_p.R868H|UNC13A_ENST00000551649.1_Missense_Mutation_p.R868H|UNC13A_ENST00000428389.2_Missense_Mutation_p.R956H	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	868					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GACGCCGTAGCGCATGGCAAA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	99	98			NA	NA	19		NA											NA				17752235		2180	4283	6463	SO:0001583	missense			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477	23025	23025			23150	protein-coding gene	gene with protein product		609894			NA		Standard	XM_038604	NM_001080421	NA	Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2603G>A	19.37:g.17752235C>T	ENSP00000429562:p.Arg868His	NA		37	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	c	21.1	4.097947	0.76870	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;D;D;D	0.84298	-1.81;-1.82;-1.8;-1.67;-1.71;-1.83	3.0	3.0	0.34707	.	0.000000	0.64402	U	0.000005	D	0.91250	0.7242	M	0.82056	2.57	0.44042	D	0.996771	D	0.89917	1.0	D	0.87578	0.998	D	0.91487	0.5209	10	0.54805	T	0.06	-10.0808	11.8562	0.52439	0.0:1.0:0.0:0.0	.	868	Q9UPW8	UN13A_HUMAN	H	868;956;868;868;868;866	ENSP00000429562:R868H;ENSP00000400409:R956H;ENSP00000252773:R868H;ENSP00000447236:R868H;ENSP00000447572:R868H;ENSP00000446831:R866H	ENSP00000252773:R868H	R	-	2	0	UNC13A	17613235	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	7.467000	0.80930	1.706000	0.51276	0.299000	0.19835	CGC	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376169.2		-	ENST00000519716.2	Missense_Mutation	SNP	19 : 17752235 - 17752235 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	54
CDT1	81620	broad.mit.edu	37	16	88872999	88872999	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88872999G>A	ENST00000301019.4	+	7	1658	c.1039G>A	c.(1039-1041)Gcg>Acg	p.A347T		NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor 1	347					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		CGAGCCGGCCGCGCTGCCCCA	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(159;511 3380 30971)							NA				0													14	17	16			NA	NA	16		NA											NA				88872999		2174	4281	6455	SO:0001583	missense			AF070552	CCDS32510.1	16q24.3	2014-08-12			ENSG00000167513	ENSG00000167513	81620	81620			24576	protein-coding gene	gene with protein product		605525			NA	11896191, 11555648	Standard	NM_030928	NM_030928	NA	Approved	DUP, RIS2	uc002flu.3	Q9H211	OTTHUMG00000173467	ENST00000301019.4:c.1039G>A	16.37:g.88872999G>A	ENSP00000301019:p.Ala347Thr	NA	Q86XX9|Q96CJ5|Q96GK5|Q96H67|Q96HE6|Q9BWM0	37	CCDS32510.1	.	.	.	.	.	.	.	.	.	.	G	8.879	0.951065	0.18431	.	.	ENSG00000167513	ENST00000301019	T	0.30182	1.54	4.97	3.95	0.45737	.	0.745843	0.12753	N	0.441992	T	0.19644	0.0472	N	0.24115	0.695	0.09310	N	1	B	0.33073	0.396	B	0.21708	0.036	T	0.06826	-1.0805	10	0.26408	T	0.33	.	14.4075	0.67093	0.0:0.1486:0.8514:0.0	.	347	Q9H211	CDT1_HUMAN	T	347	ENSP00000301019:A347T	ENSP00000301019:A347T	A	+	1	0	CDT1	87400500	0.995000	0.38212	0.252000	0.24328	0.006000	0.05464	2.228000	0.42981	2.308000	0.77769	0.462000	0.41574	GCG	CDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000423215.1		+	ENST00000301019.4	Missense_Mutation	SNP	16 : 88872999 - 88872999 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	151	31
VPS13D	55187	broad.mit.edu	37	1	12368618	12368618	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12368618C>A	ENST00000358136.3	+	27	6700	c.6570C>A	c.(6568-6570)tcC>tcA	p.S2190S	VPS13D_ENST00000356315.4_Silent_p.S2190S	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2190					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCTTCCCTTCCTATTTTGTGC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	167	169			NA	NA	1		NA											NA				12368618		2203	4300	6503	SO:0001819	synonymous_variant			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707	55187	55187			23595	protein-coding gene	gene with protein product		608877	vacuolar protein sorting 13D (yeast)		NA		Standard	NM_015378	NM_015378	NA	Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.6570C>A	1.37:g.12368618C>A		NA	Q58F10|Q6MZK9|Q6ZV12|Q709C4|Q709C5|Q86UB4|Q9NSJ3|Q9UIM0	37	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	8.701	0.909829	0.17833	.	.	ENSG00000048707	ENST00000011700	.	.	.	5.61	4.66	0.58398	.	.	.	.	.	T	0.59183	0.2175	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56836	-0.7913	4	.	.	.	.	8.5528	0.33462	0.1482:0.771:0.0:0.0809	.	.	.	.	H	1013	.	.	P	+	2	0	VPS13D	12291205	0.999000	0.42202	1.000000	0.80357	0.888000	0.51559	0.658000	0.24979	1.274000	0.44362	-0.355000	0.07637	CCT	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000036897.2		+	ENST00000358136.3	Silent	SNP	1 : 12368618 - 12368618 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	852	104
AP2A2	161	broad.mit.edu	37	11	1006544	1006544	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1006544T>G	ENST00000448903.2	+	17	2364	c.2223T>G	c.(2221-2223)ttT>ttG	p.F741L	AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000525891.1_3'UTR|AP2A2_ENST00000332231.5_Missense_Mutation_p.F742L	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	741					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGTTTATCTTTTATGGTAATA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													216	212	213			NA	NA	11		NA											NA				1006544		1875	4099	5974	SO:0001583	missense			AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020	161	161			562	protein-coding gene	gene with protein product	alpha-adaptin C; Huntingtin interacting protein J, adaptin, alpha B, clathrin-associated/assembly/adaptor protein, large, alpha 2	607242		CLAPA2, ADTAB	NA	9700202, 2564002	Standard	NM_012305	NM_012305	NA	Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.2223T>G	11.37:g.1006544T>G	ENSP00000413234:p.Phe741Leu	NA	O75403|Q53ET1|Q96SI8	37	CCDS44512.1	.	.	.	.	.	.	.	.	.	.	T	19.65	3.867997	0.72065	.	.	ENSG00000183020	ENST00000448903;ENST00000332231;ENST00000529125;ENST00000452310	T;T	0.46063	0.88;0.88	4.35	-0.505	0.11993	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);Clathrin adaptor, alpha-adaptin, appendage, Ig-like subdomain (1);	0.000000	0.85682	D	0.000000	T	0.62744	0.2453	M	0.88241	2.94	0.58432	D	0.999999	D;D	0.63880	0.992;0.993	D;D	0.74348	0.971;0.983	T	0.62886	-0.6759	10	0.46703	T	0.11	-9.1951	9.2983	0.37829	0.0:0.5228:0.0:0.4772	.	742;741	O94973-2;O94973	.;AP2A2_HUMAN	L	741;742;478;481	ENSP00000413234:F741L;ENSP00000327694:F742L	ENSP00000327694:F742L	F	+	3	2	AP2A2	996544	0.961000	0.32948	0.999000	0.59377	0.984000	0.73092	0.084000	0.14891	-0.004000	0.14419	0.523000	0.50628	TTT	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385431.2		+	ENST00000448903.2	Missense_Mutation	SNP	11 : 1006544 - 1006544 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	464	85
SLC38A4	55089	broad.mit.edu	37	12	47173814	47173814	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:47173814C>T	ENST00000447411.1	-	7	700		c.e7-1		SLC38A4_ENST00000266579.4_Splice_Site	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	NA					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CTTGACATTGCTAAAATGGAA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	98	101			NA	NA	12		NA											NA				47173814		2203	4299	6502	SO:0001630	splice_region_variant			AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209	55089	55089		Solute carriers	14679	protein-coding gene	gene with protein product		608065			NA	11414754	Standard		NM_018018	NA	Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.494-1G>A	12.37:g.47173814C>T		NA	A8K553	37	CCDS8750.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310032	0.81247	.	.	ENSG00000139209	ENST00000395426;ENST00000447411;ENST00000266579;ENST00000547477;ENST00000546940	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2406	0.98372	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC38A4	45460081	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.776000	0.85560	2.857000	0.98124	0.650000	0.86243	.	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404574.1	Intron	-	ENST00000447411.1	Splice_Site	SNP	12 : 47173814 - 47173814 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	431	83
TYK2	7297	broad.mit.edu	37	19	10472585	10472585	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10472585C>T	ENST00000525621.1	-	13	2301	c.1820G>A	c.(1819-1821)cGc>cAc	p.R607H	TYK2_ENST00000524462.1_Missense_Mutation_p.R422H|TYK2_ENST00000264818.6_Missense_Mutation_p.R607H|TYK2_ENST00000529370.1_Missense_Mutation_p.R607H	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	607	Protein kinase 1.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CACTCGCAGGCGGCCCTCATA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	67	70			NA	NA	19		NA											NA				10472585		2203	4300	6503	SO:0001583	missense				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	7297	7297	2.7.10.1		12440	protein-coding gene	gene with protein product		176941			NA	2156206	Standard		NM_003331	NA	Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.1820G>A	19.37:g.10472585C>T	ENSP00000431885:p.Arg607His	NA	Q6QB10|Q96CH0	37	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	C	7.847	0.723072	0.15439	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.93	1.56	0.23342	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.821987	0.10076	N	0.719098	T	0.17023	0.0409	L	0.43701	1.375	0.09310	N	1	B;B	0.27498	0.18;0.018	B;B	0.20767	0.031;0.015	T	0.32455	-0.9906	10	0.16896	T	0.51	-11.9141	4.2795	0.10825	0.4233:0.397:0.1797:0.0	.	607;607	E9PPF2;P29597	.;TYK2_HUMAN	H	422;607;607;354;607	ENSP00000433203:R422H;ENSP00000431885:R607H;ENSP00000264818:R607H;ENSP00000432728:R607H	ENSP00000264818:R607H	R	-	2	0	TYK2	10333585	0.000000	0.05858	0.010000	0.14722	0.044000	0.14063	0.676000	0.25247	0.218000	0.20820	-0.397000	0.06425	CGC	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389443.1		-	ENST00000525621.1	Missense_Mutation	SNP	19 : 10472585 - 10472585 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	661	122
TAS2R40	259286	broad.mit.edu	37	7	142920107	142920107	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142920107C>T	ENST00000408947.3	+	1	978	c.936C>T	c.(934-936)caC>caT	p.H312H		NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	312					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					GGTTTCAGCACCAAGTTCCTC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	52	52			NA	NA	7		NA											NA				142920107		1895	4136	6031	SO:0001819	synonymous_variant			AF494229	CCDS43662.1	7q34	2012-08-22	2003-12-16		ENSG00000221937	ENSG00000221937	259286	259286		Taste receptors / Type 2, GPCR / Unclassified : Taste receptors	18885	protein-coding gene	gene with protein product		613964	G protein-coupled receptor 60	GPR60	NA	12379855	Standard		NM_176882	NA	Approved		uc011ksx.2	P59535	OTTHUMG00000152638	ENST00000408947.3:c.936C>T	7.37:g.142920107C>T		NA	A4D2I2|Q645W6	37	CCDS43662.1																																																																																			TAS2R40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327097.1		+	ENST00000408947.3	Silent	SNP	7 : 142920107 - 142920107 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	332	70
PARP14	54625	broad.mit.edu	37	3	122422767	122422767	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122422767G>A	ENST00000474629.2	+	7	3526	c.3260G>A	c.(3259-3261)cGc>cAc	p.R1087H		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1087	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CTGGACTGTCGCTATGTGCTT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	152	150			NA	NA	3		NA											NA				122422767		2064	4198	6262	SO:0001583	missense			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193	54625	54625		Poly (ADP-ribose) polymerases	29232	protein-coding gene	gene with protein product		610028			NA	15273990	Standard	NM_017554	NM_017554	NA	Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.3260G>A	3.37:g.122422767G>A	ENSP00000418194:p.Arg1087His	NA	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	37	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292300	0.40594	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000398157	T	0.24350	1.86	5.71	-8.83	0.00806	Appr-1-p processing (3);	3.195390	0.00424	N	0.000074	T	0.28067	0.0692	M	0.75884	2.315	0.09310	N	1	B;B	0.12630	0.005;0.006	B;B	0.06405	0.001;0.002	T	0.37197	-0.9716	10	0.49607	T	0.09	.	10.8773	0.46919	0.2551:0.2042:0.5407:0.0	.	1087;1087	Q460N5-4;Q460N5	.;PAR14_HUMAN	H	1087;1006;83	ENSP00000418194:R1087H	ENSP00000381224:R83H	R	+	2	0	PARP14	123905457	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.031000	0.03578	-1.404000	0.02050	-0.793000	0.03317	CGC	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356173.2		+	ENST00000474629.2	Missense_Mutation	SNP	3 : 122422767 - 122422767 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	647	126
ZEB2	9839	broad.mit.edu	37	2	145156911	145156911	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:145156911G>A	ENST00000558170.2	-	8	3027	c.1843C>T	c.(1843-1845)Cag>Tag	p.Q615*	ZEB2_ENST00000539609.3_Nonsense_Mutation_p.Q591*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.Q615*|ZEB2_ENST00000303660.4_Nonsense_Mutation_p.Q615*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	615						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCATGAGGCTGCAGGACCGCC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(33;1235 1264 5755 16332)							NA				0			GRCh37	CM072129	ZEB2	M							97	98	98			NA	NA	2		NA											NA				145156911		2203	4300	6503	SO:0001587	stop_gained			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554	9839	9839		Zinc fingers, C2H2-type, Homeoboxes / ZF class	14881	protein-coding gene	gene with protein product	SMAD interacting protein 1	605802	zinc finger homeobox 1b	ZFHX1B	NA		Standard	NM_014795	NM_014795	NA	Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1843C>T	2.37:g.145156911G>A	ENSP00000454157:p.Gln615*	NA	A0JP09|Q9UED1	37	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	31	5.082755	0.94050	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902	.	.	.	5.75	5.75	0.90469	.	0.048076	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-9.9462	19.9507	0.97198	0.0:0.0:1.0:0.0	.	.	.	.	X	591;615;615;615	.	ENSP00000302501:Q615X	Q	-	1	0	ZEB2	144873381	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.872000	0.87187	2.705000	0.92388	0.655000	0.94253	CAG	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254778.5		-	ENST00000558170.2	Nonsense_Mutation	SNP	2 : 145156911 - 145156911 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	376	122
VEPH1	79674	broad.mit.edu	37	3	157081170	157081170	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157081170T>C	ENST00000362010.2	-	9	2025	c.1718A>G	c.(1717-1719)gAt>gGt	p.D573G	VEPH1_ENST00000392832.2_Missense_Mutation_p.D573G|VEPH1_ENST00000392833.2_Missense_Mutation_p.D573G|VEPH1_ENST00000543418.1_Missense_Mutation_p.D573G|RP11-550I24.2_ENST00000487238.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	573						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GGTACACTGATCAGGGACTGG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	159	160			NA	NA	3		NA											NA				157081170		2203	4300	6503	SO:0001583	missense			AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415	79674	79674		Pleckstrin homology (PH) domain containing	25735	protein-coding gene	gene with protein product		609594	ventricular zone expressed PH domain homolog 1 (zebrafish)		NA	11214970, 15388229	Standard	NM_024621	NM_024621	NA	Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1718A>G	3.37:g.157081170T>C	ENSP00000354919:p.Asp573Gly	NA	D3DNL0|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	37	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	T	14.76	2.631716	0.46944	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.09163	3.01;3.04;3.01;3.04	5.5	5.5	0.81552	.	0.098590	0.64402	D	0.000002	T	0.14098	0.0341	L	0.34521	1.04	0.80722	D	1	P;P	0.52170	0.951;0.521	P;B	0.47645	0.553;0.142	T	0.01027	-1.1476	10	0.59425	D	0.04	-14.4798	15.6131	0.76744	0.0:0.0:0.0:1.0	.	573;573	Q14D04-2;Q14D04	.;MELT_HUMAN	G	573	ENSP00000376578:D573G;ENSP00000354919:D573G;ENSP00000446258:D573G;ENSP00000376577:D573G	ENSP00000354919:D573G	D	-	2	0	VEPH1	158563864	1.000000	0.71417	0.914000	0.36105	0.999000	0.98932	5.721000	0.68477	2.084000	0.62774	0.533000	0.62120	GAT	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351845.3		-	ENST00000362010.2	Missense_Mutation	SNP	3 : 157081170 - 157081170 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1033	207
DCLK1	9201	broad.mit.edu	37	13	36686204	36686204	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36686204C>T	ENST00000255448.4	-	3	736	c.525G>A	c.(523-525)gaG>gaA	p.E175E	DCLK1_ENST00000379892.4_Silent_p.E175E|DCLK1_ENST00000360631.3_Silent_p.E175E	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	175					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TCTCTCGCACCTCTGAAGGGC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	118	120			NA	NA	13		NA											NA				36686204		2203	4300	6503	SO:0001819	synonymous_variant			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083	9201	9201			2700	protein-coding gene	gene with protein product		604742	doublecortin and CaM kinase-like 1	DCAMKL1	NA	9747029, 10036192	Standard	NM_004734	NM_004734	NA	Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000255448.4:c.525G>A	13.37:g.36686204C>T		NA	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	37	CCDS9354.1																																																																																			DCLK1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044483.1		-	ENST00000255448.4	Silent	SNP	13 : 36686204 - 36686204 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	685	94
CDH8	1006	broad.mit.edu	37	16	61891126	61891126	+	Silent	SNP	G	G	A	rs113885361		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:61891126G>A	ENST00000299345.6	-	4	1518	c.564C>T	c.(562-564)aaC>aaT	p.N188N	CDH8_ENST00000584337.1_Silent_p.N188N|CDH8_ENST00000577390.1_Silent_p.N188N|CDH8_ENST00000577730.1_Silent_p.N188N			P55286	CADH8_HUMAN	cadherin 8, type 2	188	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCGCAGTGACGTTAGTGACAG	0.363		NA											G	2	9e-04	NA	NA	2184	0.0035	1	,	,	NA	3e-04	NA	NA	NA	9e-04	1	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				0													68	62	64			NA	NA	16		NA											NA				61891126		2203	4300	6503	SO:0001819	synonymous_variant			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394	1006	1006		Cadherins / Major cadherins	1767	protein-coding gene	gene with protein product		603008			NA	9615235, 2059658	Standard	NM_001796	NM_001796	NA	Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000299345.6:c.564C>T	16.37:g.61891126G>A		NA	B3KWC1|Q14DC6|Q9ULB2	37																																																																																				CDH8-013	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000431170.1		-	ENST00000299345.6	Silent	SNP	16 : 61891126 - 61891126 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	276	12
TPX2	22974	broad.mit.edu	37	20	30388825	30388825	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30388825G>A	ENST00000340513.4	+	19	2822	c.2294G>A	c.(2293-2295)aGt>aAt	p.S765N	TPX2_ENST00000300403.6_Missense_Mutation_p.S729N			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	729					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ATAAAGTCAAGTGACCAGCCT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													182	155	164			NA	NA	20		NA											NA				30388825		2203	4300	6503	SO:0001583	missense			AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325	22974	22974			1249	protein-coding gene	gene with protein product		605917	chromosome 20 open reading frame 1, TPX2, microtubule-associated, homolog (Xenopus laevis)	C20orf2, C20orf1	NA	9207457, 10393424	Standard		NM_012112	NA	Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000340513.4:c.2294G>A	20.37:g.30388825G>A	ENSP00000341145:p.Ser765Asn	NA	Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	37		.	.	.	.	.	.	.	.	.	.	G	29.6	5.020733	0.93462	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.53423	0.62	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.71896	0.3394	M	0.81497	2.545	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.80764	0.986;0.994	T	0.73773	-0.3877	10	0.72032	D	0.01	-4.5283	18.891	0.92403	0.0:0.0:1.0:0.0	.	765;729	Q96RR5;Q9ULW0	.;TPX2_HUMAN	N	729;765	ENSP00000341145:S765N	ENSP00000300403:S729N	S	+	2	0	TPX2	29852486	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.797000	0.85911	2.941000	0.99782	0.655000	0.94253	AGT	TPX2-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000078570.1		+	ENST00000340513.4	Missense_Mutation	SNP	20 : 30388825 - 30388825 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	726	137
C1QL3	389941	broad.mit.edu	37	10	16556570	16556570	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16556570T>C	ENST00000298943.3	-	2	1664	c.725A>G	c.(724-726)aAc>aGc	p.N242S		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	242	C1q.					collagen				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GCTGTATTTGTTGTTGTTTCC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	142	145			NA	NA	10		NA											NA				16556570		2203	4300	6503	SO:0001583	missense				CCDS31156.1	10p13	2012-03-26			ENSG00000165985	ENSG00000165985	389941	389941			19359	protein-coding gene	gene with protein product		615227			NA	21378161	Standard	XM_372305	NM_001010908	NA	Approved	K100, C1ql, C1QTNF13, CTRP13	uc001ioj.1	Q5VWW1	OTTHUMG00000017738	ENST00000298943.3:c.725A>G	10.37:g.16556570T>C	ENSP00000298943:p.Asn242Ser	NA	A0PJY4|A0PJY5	37	CCDS31156.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.753605	0.69648	.	.	ENSG00000165985	ENST00000298943;ENST00000448557	T	0.74737	-0.87	5.68	5.68	0.88126	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	T	0.77082	0.4078	L	0.50333	1.59	0.58432	D	0.999995	P	0.45569	0.861	P	0.49953	0.627	T	0.76307	-0.3007	10	0.38643	T	0.18	.	15.9265	0.79621	0.0:0.0:0.0:1.0	.	242	Q5VWW1	C1QL3_HUMAN	S	242;219	ENSP00000298943:N242S	ENSP00000298943:N242S	N	-	2	0	C1QL3	16596576	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.159000	0.67721	0.533000	0.62120	AAC	C1QL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047003.1		-	ENST00000298943.3	Missense_Mutation	SNP	10 : 16556570 - 16556570 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	605	30
CTTN	2017	broad.mit.edu	37	11	70256068	70256068	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70256068T>C	ENST00000376561.3	+	5	462		c.e5+2		CTTN_ENST00000346329.3_Splice_Site|CTTN_ENST00000527622.1_Splice_Site|CTTN_ENST00000301843.8_Splice_Site	NM_001184740.1	NP_001171669.1	Q14247	SRC8_HUMAN	cortactin	NA						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		ATGGATAAGGTAAGTGGCCCG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	139	139			NA	NA	11		NA											NA				70256068		2200	4294	6494	SO:0001630	splice_region_variant			AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733	2017	2017			3338	protein-coding gene	gene with protein product		164765	ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)	EMS1	NA	7685625	Standard	NM_138565	NM_005231	NA	Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000376561.3:c.291+2T>C	11.37:g.70256068T>C		NA		37	CCDS53676.1	.	.	.	.	.	.	.	.	.	.	T	9.232	1.036166	0.19590	.	.	ENSG00000085733	ENST00000346329;ENST00000301843;ENST00000376561;ENST00000415461	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4978	0.67700	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CTTN	69933716	1.000000	0.71417	0.073000	0.20177	0.021000	0.10359	4.852000	0.62904	1.873000	0.54277	0.460000	0.39030	.	CTTN-008	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394097.1	Intron	+	ENST00000376561.3	Splice_Site	SNP	11 : 70256068 - 70256068 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	747	23
H6PD	9563	broad.mit.edu	37	1	9305205	9305205	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9305205A>G	ENST00000377403.2	+	2	514	c.212A>G	c.(211-213)aAg>aGg	p.K71R	H6PD_ENST00000602477.1_Missense_Mutation_p.K82R	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	71	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	ACAGCCCCCAAGCAGGGTCAA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	60	61			NA	NA	1		NA											NA				9305205		2203	4300	6503	SO:0001583	missense			AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	9563	9563	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	glucose dehyrogenase	GDH	NA	10349511	Standard	NM_004285	NM_001282587	NA	Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.212A>G	1.37:g.9305205A>G	ENSP00000366620:p.Lys71Arg	NA	Q4TT33|Q66I35|Q68DT3	37	CCDS101.1	.	.	.	.	.	.	.	.	.	.	a	14.41	2.528407	0.44969	.	.	ENSG00000049239	ENST00000377403	T	0.63255	-0.03	5.31	-0.342	0.12635	NAD(P)-binding domain (1);Glucose-6-phosphate dehydrogenase, NAD-binding (1);	0.671439	0.15732	N	0.247370	T	0.45776	0.1359	L	0.38175	1.15	0.09310	N	0.999991	B	0.10296	0.003	B	0.09377	0.004	T	0.33394	-0.9870	10	0.51188	T	0.08	-5.7056	6.1322	0.20211	0.6308:0.1522:0.217:0.0	.	71	O95479	G6PE_HUMAN	R	71	ENSP00000366620:K71R	ENSP00000366620:K71R	K	+	2	0	H6PD	9227792	0.869000	0.29996	0.770000	0.31555	0.936000	0.57629	1.800000	0.38833	-0.129000	0.11620	-0.332000	0.08345	AAG	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000004928.2		+	ENST00000377403.2	Missense_Mutation	SNP	1 : 9305205 - 9305205 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	225	47
ICAM1	3383	broad.mit.edu	37	19	10385700	10385700	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10385700G>A	ENST00000264832.3	+	2	652	c.327G>A	c.(325-327)gtG>gtA	p.V109V	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Intron	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	109					adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	TCCTCACCGTGTACTGTGAGT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	89	88			NA	NA	19		NA											NA				10385700		2202	4298	6500	SO:0001819	synonymous_variant				CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339	3383	3383		CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Endogenous ligands	5344	protein-coding gene	gene with protein product	human rhinovirus receptor	147840			NA	2453850, 3871395	Standard		NM_000201	NA	Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.327G>A	19.37:g.10385700G>A		NA	B2R6M3|Q5NKV7|Q96B50	37	CCDS12231.1																																																																																			ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451207.1		+	ENST00000264832.3	Silent	SNP	19 : 10385700 - 10385700 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	639	21
PCDH11X	27328	broad.mit.edu	37	X	91090729	91090729	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:91090729C>T	ENST00000373094.1	+	1	1071	c.226C>T	c.(226-228)Cga>Tga	p.R76*	PCDH11X_ENST00000361655.2_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000373088.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000504220.2_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000395337.2_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000361724.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000373097.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000298274.8_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000406881.1_Nonsense_Mutation_p.R76*	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	76	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCCACTGATTCGAATTGAAGA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(38;925 1092 2571 38200 45895)							NA				0													196	163	174			NA	NA	X		NA											NA				91090729		2203	4300	6503	SO:0001587	stop_gained			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290	27328	27328		Cadherins / Protocadherins : Non-clustered	8656	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 119	300246	protocadherin 11	PCDH11	NA	10644456	Standard	NM_032969	NM_001168360	NA	Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.226C>T	X.37:g.91090729C>T	ENSP00000362186:p.Arg76*	NA	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	37	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.283591	0.59867	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	.	.	.	4.06	2.01	0.26516	.	0.078447	0.48767	D	0.000165	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6815	0.51461	0.3941:0.6059:0.0:0.0	.	.	.	.	X	76	.	ENSP00000298274:R76X	R	+	1	2	PCDH11X	90977385	0.654000	0.27367	0.960000	0.40013	0.236000	0.25371	0.527000	0.22987	0.784000	0.33661	0.506000	0.49869	CGA	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057436.1		+	ENST00000373094.1	Nonsense_Mutation	SNP	X : 91090729 - 91090729 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	506	170
MUC16	94025	broad.mit.edu	37	19	9002161	9002161	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9002161G>A	ENST00000397910.4	-	52	40546	c.40343C>T	c.(40342-40344)aCc>aTc	p.T13448I	MUC16_ENST00000380951.5_Missense_Mutation_p.T89I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13450					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						ACTTCTGGTGGTCGTCATAGA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	85	89			NA	NA	19		NA											NA				9002161		1971	4145	6116	SO:0001583	missense			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.40343C>T	19.37:g.9002161G>A	ENSP00000381008:p.Thr13448Ile	NA	Q6ZQW5|Q96RK2	37	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	3.235|3.235	-0.156656|-0.156656	0.06544|0.06544	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.33654	.|1.4;1.4	1.38|1.38	-2.76|-2.76	0.05896|0.05896	.|.	.|.	.|.	.|.	.|.	T|T	0.42585|0.42585	0.1209|0.1209	L|L	0.48642|0.48642	1.525|1.525	.|.	.|.	.|.	.|B;D	.|0.61697	.|0.001;0.99	.|B;D	.|0.74348	.|0.0;0.983	T|T	0.44787|0.44787	-0.9305|-0.9305	4|8	.|0.40728	.|T	.|0.16	.|.	3.7638|3.7638	0.08615|0.08615	0.3283:0.3967:0.275:0.0|0.3283:0.3967:0.275:0.0	.|.	.|21093;13448	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	S|I	288|13448;89	.|ENSP00000381008:T13448I;ENSP00000370338:T89I	.|ENSP00000370338:T89I	P|T	-|-	1|2	0|0	MUC16|MUC16	8863161|8863161	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.122000|0.122000	0.20287|0.20287	-2.921000|-2.921000	0.00693|0.00693	-1.763000|-1.763000	0.01307|0.01307	0.274000|0.274000	0.19336|0.19336	CCA|ACC	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Missense_Mutation	SNP	19 : 9002161 - 9002161 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	124	12
KIAA1324L	222223	broad.mit.edu	37	7	86537040	86537040	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86537040A>G	ENST00000416314.1	-	17	2198	c.2003T>C	c.(2002-2004)gTg>gCg	p.V668A	KIAA1324L_ENST00000444627.1_Missense_Mutation_p.V764A|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.V595A|KIAA1324L_ENST00000450689.2_Missense_Mutation_p.V835A	NM_152748.3	NP_689961.3	A8MWY0	K132L_HUMAN	KIAA1324-like	835						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CCTCATTTTCACAGCAGTTGA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	109	113			NA	NA	7		NA											NA				86537040		2203	4300	6503	SO:0001583	missense			AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659	222223	222223			21945	protein-coding gene	gene with protein product	EIG121-like	614048			NA		Standard	NM_152748	NM_001142749	NA	Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000416314.1:c.2003T>C	7.37:g.86537040A>G	ENSP00000402390:p.Val668Ala	NA	A4D1C9|Q17RI6|Q96DP2	37	CCDS34677.2	.	.	.	.	.	.	.	.	.	.	A	28.8	4.952311	0.92660	.	.	ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	T;T;T;T	0.05081	3.5;3.5;3.5;3.5	5.97	5.97	0.96955	Mannose-6-phosphate receptor, binding (1);	0.113441	0.64402	D	0.000010	T	0.19805	0.0476	M	0.78801	2.425	0.80722	D	1	P;P;P	0.52170	0.951;0.925;0.925	P;B;B	0.55112	0.769;0.435;0.435	T	0.00402	-1.1762	10	0.40728	T	0.16	.	13.8398	0.63432	1.0:0.0:0.0:0.0	.	835;595;668	A8MWY0;A8MWY0-2;B4DJV3	K132L_HUMAN;.;.	A	835;595;764;668	ENSP00000413445:V835A;ENSP00000297222:V595A;ENSP00000397377:V764A;ENSP00000402390:V668A	ENSP00000297222:V595A	V	-	2	0	KIAA1324L	86374976	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.130000	0.89598	2.289000	0.77006	0.459000	0.35465	GTG	KIAA1324L-005	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333840.1		-	ENST00000416314.1	Missense_Mutation	SNP	7 : 86537040 - 86537040 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	460	83
BNC2	54796	broad.mit.edu	37	9	16437072	16437072	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:16437072T>C	ENST00000380672.4	-	6	1177	c.1120A>G	c.(1120-1122)Aca>Gca	p.T374A	BNC2_ENST00000380667.2_Missense_Mutation_p.T307A|BNC2_ENST00000380666.2_Missense_Mutation_p.T374A|BNC2_ENST00000545497.1_Missense_Mutation_p.T279A	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TTATAAGGTGTGGGAGAAACT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	112	111			NA	NA	9		NA											NA				16437072		2203	4300	6503	SO:0001583	missense			AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068	54796	54796		Zinc fingers, C2H2-type	30988	protein-coding gene	gene with protein product		608669			NA	14702039	Standard	NM_017637	XM_006716784	NA	Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1120A>G	9.37:g.16437072T>C	ENSP00000370047:p.Thr374Ala	NA	B1APG9|Q6T3A3|Q8NAR2|Q9H6J0|Q9NXV0	37	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	T	7.413	0.635166	0.14322	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.29397	1.57;1.57;1.58;1.58;1.57	5.96	5.96	0.96718	.	0.102553	0.64402	D	0.000002	T	0.17365	0.0417	N	0.14661	0.345	0.37568	D	0.919307	B;B;B;B;B;B;B;B;B	0.11235	0.001;0.0;0.001;0.004;0.001;0.0;0.0;0.0;0.002	B;B;B;B;B;B;B;B;B	0.12156	0.001;0.0;0.001;0.007;0.003;0.0;0.0;0.0;0.001	T	0.18681	-1.0329	10	0.11485	T	0.65	-11.4966	11.4686	0.50254	0.0:0.0695:0.0:0.9305	.	279;307;374;200;374;331;374;279;139	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	A	374;331;307;279;200;374;374	ENSP00000370047:T374A;ENSP00000408370:T331A;ENSP00000370042:T307A;ENSP00000444640:T279A;ENSP00000370041:T374A	ENSP00000370041:T374A	T	-	1	0	BNC2	16427072	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.615000	0.46368	2.270000	0.75569	0.533000	0.62120	ACA	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216901.5		-	ENST00000380672.4	Missense_Mutation	SNP	9 : 16437072 - 16437072 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	306	70
PTCH2	8643	broad.mit.edu	37	1	45292982	45292982	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45292982C>A	ENST00000372192.3	-	16	2502		c.e16-1		PTCH2_ENST00000447098.2_Splice_Site	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	NA					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GCCTGGATTCCTGGGGGAGAC	0.642		NA							Basal Cell Nevus syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	62	60			NA	NA	1		NA											NA				45292982		2203	4300	6503	SO:0001630	splice_region_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.2372-1G>T	1.37:g.45292982C>A		NA	O95341|O95856|Q53Z57|Q5QP87|Q6UX14	37	CCDS516.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.725120	0.48833	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3462	0.90322	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTCH2	45065569	1.000000	0.71417	0.995000	0.50966	0.500000	0.33767	5.634000	0.67833	2.402000	0.81655	0.557000	0.71058	.	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000023428.4	Intron	-	ENST00000372192.3	Splice_Site	SNP	1 : 45292982 - 45292982 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	474	118
UBXN4	23190	broad.mit.edu	37	2	136540441	136540441	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136540441C>T	ENST00000272638.9	+	13	1822	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	504					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						AATGGAAATTCCACTCAACAG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	102	103			NA	NA	2		NA											NA				136540441		1850	4100	5950	SO:0001583	missense			D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224	23190	23190		UBX domain containing	14860	protein-coding gene	gene with protein product	erasin	611216	UBX domain-containing 2, UBX domain containing 2	UBXDC1, UBXD2	NA	16968747	Standard	NM_014607	NM_014607	NA	Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.1511C>T	2.37:g.136540441C>T	ENSP00000272638:p.Ser504Phe	NA	A8K9W4|Q4ZG56|Q8IYM5	37	CCDS42761.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460317	0.84317	.	.	ENSG00000144224	ENST00000272638;ENST00000430594	T	0.75050	-0.9	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.87935	0.6303	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89257	0.3595	10	0.87932	D	0	.	19.3516	0.94389	0.0:1.0:0.0:0.0	.	504	Q92575	UBXN4_HUMAN	F	504;486	ENSP00000272638:S504F	ENSP00000272638:S504F	S	+	2	0	UBXN4	136256911	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.430000	0.80321	2.557000	0.86248	0.643000	0.83706	TCC	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331696.1		+	ENST00000272638.9	Missense_Mutation	SNP	2 : 136540441 - 136540441 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	612	175
NSUN4	387338	broad.mit.edu	37	1	46827361	46827361	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46827361G>T	ENST00000474844.1	+	6	1648	c.998G>T	c.(997-999)aGc>aTc	p.S333I	NSUN4_ENST00000537428.1_Missense_Mutation_p.S284I|NSUN4_ENST00000536062.1_Missense_Mutation_p.S284I|NSUN4_ENST00000498008.1_3'UTR	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	333							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					AATCAATACAGCATCCAGGTA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													304	280	288			NA	NA	1		NA											NA				46827361		2203	4300	6503	SO:0001583	missense			AK021577	CCDS534.1, CCDS57996.1	1p34	2012-02-24	2009-11-23		ENSG00000117481	ENSG00000117481	387338	387338		NOP2/Sun domain containing	31802	protein-coding gene	gene with protein product	sperm head and tail associated protein	615394	NOL1/NOP2/Sun domain family 4, NOL1/NOP2/Sun domain family, member 4		NA		Standard	NM_199044	NM_199044	NA	Approved	MGC22960, SHTAP	uc001cpr.2	Q96CB9	OTTHUMG00000007808	ENST00000474844.1:c.998G>T	1.37:g.46827361G>T	ENSP00000419740:p.Ser333Ile	NA	A8K6S6|Q5TDF7|Q96AN8|Q9HAJ8	37	CCDS534.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596087	0.46318	.	.	ENSG00000117481	ENST00000474844;ENST00000536062;ENST00000537428	T;T;T	0.14893	2.47;2.48;2.48	5.43	0.566	0.17317	.	0.254757	0.47455	D	0.000236	T	0.19967	0.0480	L	0.46157	1.445	0.09310	N	1	P;B	0.44281	0.831;0.004	P;B	0.48552	0.581;0.044	T	0.07558	-1.0766	10	0.49607	T	0.09	-2.0149	10.326	0.43793	0.4737:0.0:0.5263:0.0	.	200;333	B3KUM0;Q96CB9	.;NSUN4_HUMAN	I	333;284;284	ENSP00000419740:S333I;ENSP00000438912:S284I;ENSP00000437758:S284I	ENSP00000419740:S333I	S	+	2	0	NSUN4	46599948	0.610000	0.26983	0.991000	0.47740	0.495000	0.33615	0.270000	0.18607	0.239000	0.21243	0.655000	0.94253	AGC	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021427.1		+	ENST00000474844.1	Missense_Mutation	SNP	1 : 46827361 - 46827361 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	680	133
ADRBK1	156	broad.mit.edu	37	11	67050268	67050268	+	Silent	SNP	C	C	T	rs150236476		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67050268C>T	ENST00000308595.5	+	14	1496	c.1206C>T	c.(1204-1206)atC>atT	p.I402I	ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	402	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	AGCATGAGATCGACCGCATGA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4399	2.1+/-5.4	0,1,2199	52	46	48		1206	-2.3	1	11	dbSNP_134	48	0,8590		0,0,4295	no	coding-synonymous	ADRBK1	NM_001619.3		0,1,6494	TT,TC,CC	NA	0.0,0.0227,0.0077		402/690	67050268	1,12989	2200	4295	6495	SO:0001819	synonymous_variant			X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020	156	156		Pleckstrin homology (PH) domain containing	289	protein-coding gene	gene with protein product		109635			NA	2037065	Standard	NM_001619	NM_001619	NA	Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1206C>T	11.37:g.67050268C>T		NA	B0ZBE1|Q13837|Q6GTT3	37	CCDS8156.1																																																																																			ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393153.1		+	ENST00000308595.5	Silent	SNP	11 : 67050268 - 67050268 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	164	29
EGR2	1959	broad.mit.edu	37	10	64573594	64573594	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64573594G>T	ENST00000242480.3	-	2	1129	c.804C>A	c.(802-804)atC>atA	p.I268I	EGR2_ENST00000439032.1_Silent_p.I268I|EGR2_ENST00000411732.1_Silent_p.I218I	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	268			I -> N (in CHN).		fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					TAAAGTTACGGATTGTAGAGA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	31	30			NA	NA	10		NA											NA				64573594		2196	4289	6485	SO:0001819	synonymous_variant			BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877	1959	1959		Zinc fingers, C2H2-type	3239	protein-coding gene	gene with protein product	Krox-20 homolog, Drosophila	129010	early growth response 2 (Krox-20 homolog, Drosophila)	KROX20	NA		Standard	NM_000399	NM_000399	NA	Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.804C>A	10.37:g.64573594G>T		NA	B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	37	CCDS7267.1																																																																																			EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048245.2		-	ENST00000242480.3	Silent	SNP	10 : 64573594 - 64573594 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	388	56
C4orf21	0	broad.mit.edu	37	4	113539394	113539394	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113539394T>C	ENST00000505019.1	-	6	1929	c.1804A>G	c.(1804-1806)Aca>Gca	p.T602A	C4orf21_ENST00000445203.2_Missense_Mutation_p.T571A|C4orf21_ENST00000309071.5_Missense_Mutation_p.T602A	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN		602										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ACAGGAAATGTCACTGTAGGT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	108	108			NA	NA	4		NA											NA				113539394		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000505019.1:c.1804A>G	4.37:g.113539394T>C	ENSP00000424737:p.Thr602Ala	NA	Q9NUJ4	37		.	.	.	.	.	.	.	.	.	.	T	11.77	1.736409	0.30774	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	D;T;T	0.81996	-1.56;1.94;1.55	4.65	-2.87	0.05700	.	1.612590	0.03166	N	0.170010	T	0.67021	0.2849	N	0.21448	0.665	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.58918	-0.7551	10	0.02654	T	1	1.7342	6.8986	0.24271	0.0:0.163:0.5016:0.3353	.	602;602	Q86YA3;G5EA02	CD021_HUMAN;.	A	602;602;571	ENSP00000424737:T602A;ENSP00000309095:T602A;ENSP00000390505:T571A	ENSP00000309095:T602A	T	-	1	0	C4orf21	113758843	0.000000	0.05858	0.000000	0.03702	0.904000	0.53231	-0.726000	0.04936	-0.560000	0.06102	0.455000	0.32223	ACA	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000256413.1		-	ENST00000505019.1	Missense_Mutation	SNP	4 : 113539394 - 113539394 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	546	99
GTF2H1	2965	broad.mit.edu	37	11	18359773	18359773	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18359773T>G	ENST00000265963.4	+	4	625	c.465T>G	c.(463-465)tcT>tcG	p.S155S	GTF2H1_ENST00000534641.1_Silent_p.S39S|GTF2H1_ENST00000453096.2_Silent_p.S155S|GTF2H1_ENST00000524753.4_5'UTR	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	155					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						CAGATAGTTCTTCCACATCCA	0.378		NA						Nucleotide excision repair (NER)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													197	179	185			NA	NA	11		NA											NA				18359773		2199	4293	6492	SO:0001819	synonymous_variant				CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768	2965	2965		General transcription factors, General transcription factor IIH complex subunits	4655	protein-coding gene	gene with protein product		189972	general transcription factor IIH, polypeptide 1 (62kD subunit)		NA	1529339, 8162052	Standard	NM_005316	NM_005316	NA	Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.465T>G	11.37:g.18359773T>G		NA	D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	37	CCDS7838.1																																																																																			GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395627.2		+	ENST00000265963.4	Silent	SNP	11 : 18359773 - 18359773 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	594	107
LAPTM4B	55353	broad.mit.edu	37	8	98827618	98827618	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:98827618G>A	ENST00000445593.2	+	3	1227	c.547G>A	c.(547-549)Gga>Aga	p.G183R	LAPTM4B_ENST00000521545.2_Missense_Mutation_p.G92R	NM_018407.4	NP_060877.3	Q86VI4	LAP4B_HUMAN	lysosomal protein transmembrane 4 beta	236					transport	endomembrane system|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)			GGCTACTTACGGAGCGTACAA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	116	120			NA	NA	8		NA											NA				98827618		2203	4300	6503	SO:0001583	missense			AF317417	CCDS6275.1	8q22.1	2008-08-11	2008-08-11		ENSG00000104341	ENSG00000104341	55353	55353			13646	protein-coding gene	gene with protein product		613296			NA		Standard		NM_018407	NA	Approved	LC27	uc003yia.3	Q86VI4	OTTHUMG00000164740	ENST00000445593.2:c.547G>A	8.37:g.98827618G>A	ENSP00000402301:p.Gly183Arg	NA	Q3ZCV5|Q7L909|Q86VH8|Q9H060	37	CCDS6275.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872607	0.91587	.	.	ENSG00000104341	ENST00000445593;ENST00000378722;ENST00000521545	T;T	0.47177	0.85;0.85	5.81	5.81	0.92471	.	0.055694	0.64402	D	0.000001	T	0.72906	0.3519	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76418	-0.2966	10	0.72032	D	0.01	-12.4055	16.9823	0.86332	0.0:0.0:1.0:0.0	.	236	Q86VI4	LAP4B_HUMAN	R	183;229;92	ENSP00000402301:G183R;ENSP00000428409:G92R	ENSP00000367995:G229R	G	+	1	0	LAPTM4B	98896794	1.000000	0.71417	0.939000	0.37840	0.756000	0.42949	8.852000	0.92215	2.738000	0.93877	0.557000	0.71058	GGA	LAPTM4B-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380014.1		+	ENST00000445593.2	Missense_Mutation	SNP	8 : 98827618 - 98827618 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	51
GNL2	29889	broad.mit.edu	37	1	38042031	38042031	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38042031T>G	ENST00000373062.3	-	9	1134	c.1036A>C	c.(1036-1038)Aag>Cag	p.K346Q		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	346	G.				ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				CAACGTACCTTTGTTTCACCT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	149	155			NA	NA	1		NA											NA				38042031		2203	4300	6503	SO:0001583	missense			L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697	29889	29889			29925	protein-coding gene	gene with protein product		609365			NA	8822211	Standard	NM_013285	NM_013285	NA	Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.1036A>C	1.37:g.38042031T>G	ENSP00000362153:p.Lys346Gln	NA	Q9BWN7	37	CCDS421.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	33|33	5.278906|5.278906	0.95489|0.95489	.|.	.|.	ENSG00000134697|ENSG00000134697	ENST00000373062;ENST00000545489|ENST00000538069	T|.	0.13778|.	2.56|.	6.14|6.14	6.14|6.14	0.99180|0.99180	GTP-binding domain, HSR1-related (1);|.	0.087721|.	0.85682|.	D|.	0.000000|.	T|T	0.75845|0.75845	0.3905|0.3905	M|M	0.73430|0.73430	2.235|2.235	0.80722|0.80722	D|D	1|1	P|.	0.35894|.	0.526|.	P|.	0.52031|.	0.688|.	T|T	0.75425|0.75425	-0.3322|-0.3322	10|5	0.66056|.	D|.	0.02|.	-15.4024|-15.4024	16.806|16.806	0.85666|0.85666	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	346|.	Q13823|.	NOG2_HUMAN|.	Q|H	346;187|197	ENSP00000362153:K346Q|.	ENSP00000362153:K346Q|.	K|Q	-|-	1|3	0|2	GNL2|GNL2	37814618|37814618	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.896000|0.896000	0.52359|0.52359	8.008000|8.008000	0.88588|0.88588	2.367000|2.367000	0.80283|0.80283	0.529000|0.529000	0.55759|0.55759	AAG|CAA	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000012478.1		-	ENST00000373062.3	Missense_Mutation	SNP	1 : 38042031 - 38042031 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	562	55
PIP5K1B	8395	broad.mit.edu	37	9	71555659	71555659	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71555659C>T	ENST00000265382.3	+	14	1760	c.1455C>T	c.(1453-1455)taC>taT	p.Y485Y	PIP5K1B_ENST00000541509.1_Silent_p.Y485Y	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	485						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		CTTCCTTATACGTCAATGAGC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													305	237	260			NA	NA	9		NA											NA				71555659		2203	4300	6503	SO:0001819	synonymous_variant			U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242	8395	8395			8995	protein-coding gene	gene with protein product		602745			NA	9177790, 8841185	Standard	NM_003558	NM_003558	NA	Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.1455C>T	9.37:g.71555659C>T		NA	A8K9L9|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	37	CCDS6624.1																																																																																			PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052561.2		+	ENST00000265382.3	Silent	SNP	9 : 71555659 - 71555659 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	821	167
PCDHA13	56136	broad.mit.edu	37	5	140306644	140306644	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140306644G>A	ENST00000409494.1	+	1	2455				PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R56H|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHAC1_ENST00000253807.2_Missense_Mutation_p.R56H|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_031865.1	NP_114071.1			protocadherin alpha 13	NA										NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGAACTTTCGCTTCCTTTCC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(147;1739 1852 5500 27947 37288)							NA				0													50	57	54			NA	NA	5		NA											NA				140306644		2203	4300	6503	SO:0001627	intron_variant			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389	56136	56136		Cadherins / Protocadherins : Clustered	8667	other	complex locus constituent	KIAA0345-like 1, ortholog of mouse CNR5	606319		CNRS5	NA	10380929, 10662547	Standard	NM_018904	NM_018904	NA	Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000409494.1:c.2394+42397G>A	5.37:g.140306644G>A		NA		37		.	.	.	.	.	.	.	.	.	.	G	25.9	4.688480	0.88639	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.38240	1.15;1.15	5.29	4.36	0.52297	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.55737	0.1939	M	0.77313	2.365	0.29161	N	0.877754	D;D	0.89917	1.0;0.998	D;P	0.67231	0.95;0.807	T	0.51957	-0.8639	9	0.48119	T	0.1	.	8.3053	0.32038	0.078:0.0:0.7657:0.1563	.	56;56	Q9H158;Q9H158-2	PCDC1_HUMAN;.	H	56	ENSP00000386356:R56H;ENSP00000253807:R56H	ENSP00000253807:R56H	R	+	2	0	PCDHAC1	140286828	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	4.682000	0.61671	2.460000	0.83146	0.561000	0.74099	CGC	PCDHA13-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000251809.2		+	ENST00000409494.1	Intron	SNP	5 : 140306644 - 140306644 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	175	41
H6PD	9563	broad.mit.edu	37	1	9324735	9324735	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9324735G>A	ENST00000377403.2	+	5	2485	c.2183G>A	c.(2182-2184)cGc>cAc	p.R728H	H6PD_ENST00000602477.1_Missense_Mutation_p.R739H	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	728	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	CCACACCGCCGCATGAGCCTT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	32	33			NA	NA	1		NA											NA				9324735		2203	4298	6501	SO:0001583	missense			AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	9563	9563	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	glucose dehyrogenase	GDH	NA	10349511	Standard	NM_004285	NM_001282587	NA	Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.2183G>A	1.37:g.9324735G>A	ENSP00000366620:p.Arg728His	NA	Q4TT33|Q66I35|Q68DT3	37	CCDS101.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883390	0.91740	.	.	ENSG00000049239	ENST00000377403	T	0.71579	-0.58	5.72	5.72	0.89469	Glucosamine/galactosamine-6-phosphate isomerase (1);6-phosphogluconolactonase, DevB-type (1);	0.047987	0.85682	D	0.000000	D	0.91284	0.7252	H	0.98951	4.38	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.94410	0.7631	10	0.87932	D	0	-37.7311	18.8652	0.92289	0.0:0.0:1.0:0.0	.	728	O95479	G6PE_HUMAN	H	728	ENSP00000366620:R728H	ENSP00000366620:R728H	R	+	2	0	H6PD	9247322	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	9.340000	0.97038	2.709000	0.92574	0.561000	0.74099	CGC	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000004928.2		+	ENST00000377403.2	Missense_Mutation	SNP	1 : 9324735 - 9324735 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	261	35
KMT2C	58508	broad.mit.edu	37	7	151859602	151859602	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151859602C>T	ENST00000262189.6	-	43	11278	c.11060G>A	c.(11059-11061)aGt>aAt	p.S3687N	KMT2C_ENST00000355193.2_Missense_Mutation_p.S3687N	NM_170606.2	NP_733751.2			lysine (K)-specific methyltransferase 2C	NA											NA						TGAGAAATCACTATTGGGCAG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													212	213	212			NA	NA	7		NA											NA				151859602		2203	4300	6503	SO:0001583	missense			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609	58508	58508		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	13726	protein-coding gene	gene with protein product		606833	myeloid/lymphoid or mixed-lineage leukemia 3	MLL3	NA	10819331	Standard		XM_005250026	NA	Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.11060G>A	7.37:g.151859602C>T	ENSP00000262189:p.Ser3687Asn	NA		37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.370395	0.24771	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877	D;D;D	0.89343	-1.79;-1.83;-2.5	5.51	0.49	0.16861	.	0.658638	0.13152	U	0.409831	D	0.83381	0.5242	L	0.47716	1.5	0.09310	N	1	B;B;B	0.28128	0.201;0.006;0.001	B;B;B	0.27608	0.081;0.003;0.002	T	0.69866	-0.5029	10	0.40728	T	0.16	.	9.4648	0.38806	0.0:0.4076:0.4637:0.1287	.	3687;2748;3687	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	N	3687;3687;273	ENSP00000262189:S3687N;ENSP00000347325:S3687N;ENSP00000410411:S273N	ENSP00000262189:S3687N	S	-	2	0	MLL3	151490535	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	0.472000	0.22116	-0.195000	0.10382	0.650000	0.86243	AGT	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318887.3		-	ENST00000262189.6	Missense_Mutation	SNP	7 : 151859602 - 151859602 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1131	217
SLC12A3	6559	broad.mit.edu	37	16	56906698	56906698	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56906698G>T	ENST00000438926.2	+	8	1124	c.1095G>T	c.(1093-1095)aaG>aaT	p.K365N	SLC12A3_ENST00000563236.1_Splice_Site_p.K365N|SLC12A3_ENST00000566786.1_Splice_Site_p.K364N|SLC12A3_ENST00000262502.5_Splice_Site_p.K364N	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	365					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GTGACCTCAAGGTGAGCAGAA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	61	63			NA	NA	16		NA											NA				56906698		2198	4300	6498	SO:0001630	splice_region_variant				CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915	NA	6559		Solute carriers	10912	protein-coding gene	gene with protein product		600968			NA	8812482	Standard		NM_000339	NA	Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000438926.2:c.1095+1G>T	16.37:g.56906698G>T		NA	A8MSJ2|C9JNN9	37	CCDS10770.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902203	0.72754	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.67	4.72	0.59763	Amino acid permease domain (1);	0.044027	0.85682	D	0.000000	D	0.86243	0.5886	H	0.95816	3.725	0.80722	D	1	B;P;P	0.43412	0.329;0.806;0.769	B;P;P	0.61397	0.279;0.888;0.821	D	0.89721	0.3919	9	0.87932	D	0	.	14.6175	0.68560	0.0702:0.0:0.9297:0.0	.	364;365;365	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	N	364;365	.	ENSP00000262502:K365N	K	+	3	2	SLC12A3	55464199	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	4.634000	0.61325	1.395000	0.46643	0.561000	0.74099	AAG	SLC12A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257064.2	Missense_Mutation	+	ENST00000438926.2	Splice_Site	SNP	16 : 56906698 - 56906698 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	355	68
UBE3A	7337	broad.mit.edu	37	15	25616462	25616462	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25616462C>T	ENST00000566215.1	-	8	1384	c.799G>A	c.(799-801)Gta>Ata	p.V267I	UBE3A_ENST00000232165.3_Missense_Mutation_p.V287I|UBE3A_ENST00000438097.1_Missense_Mutation_p.V267I|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000397954.2_Missense_Mutation_p.V290I|UBE3A_ENST00000428984.2_Missense_Mutation_p.V267I			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	290					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TTCTCCATTACGATAATGAAC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	52	53			NA	NA	15		NA											NA				25616462		2203	4300	6503	SO:0001583	missense			AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	7337	7337	6.3.2.19		12496	protein-coding gene	gene with protein product	Angelman syndrome	601623	human papilloma virus E6-associated protein	EPVE6AP, HPVE6A	NA	8221889	Standard	NM_000462	NM_130838	NA	Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000566215.1:c.799G>A	15.37:g.25616462C>T	ENSP00000457771:p.Val267Ile	NA	A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	37	CCDS32177.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.834978	0.32421	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.17854	2.25;2.25;2.26;2.26	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.14356	0.0347	L	0.33293	1	0.58432	D	0.999998	B;B	0.34313	0.448;0.004	B;B	0.25614	0.062;0.004	T	0.07481	-1.0770	10	0.21014	T	0.42	.	20.1466	0.98079	0.0:1.0:0.0:0.0	.	287;290	Q05086-3;Q05086	.;UBE3A_HUMAN	I	287;287;290;267;267	ENSP00000232165:V287I;ENSP00000381045:V290I;ENSP00000411258:V267I;ENSP00000401265:V267I	ENSP00000232165:V287I	V	-	1	0	UBE3A	23167555	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.044000	0.57361	2.779000	0.95612	0.591000	0.81541	GTA	UBE3A-002	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434202.1		-	ENST00000566215.1	Missense_Mutation	SNP	15 : 25616462 - 25616462 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	336	50
ZNF430	80264	broad.mit.edu	37	19	21239790	21239790	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21239790A>G	ENST00000261560.5	+	5	857	c.676A>G	c.(676-678)Att>Gtt	p.I226V		NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						ACATAAAAGAATTCATATTAG	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	41	40			NA	NA	19		NA											NA				21239790		2202	4298	6500	SO:0001583	missense			AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620	80264	80264		Zinc fingers, C2H2-type, -	20808	protein-coding gene	gene with protein product					NA		Standard	NM_025189	NM_025189	NA	Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.676A>G	19.37:g.21239790A>G	ENSP00000261560:p.Ile226Val	NA	Q86V70	37	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	1.137	-0.650570	0.03506	.	.	ENSG00000118620	ENST00000261560	T	0.00986	5.47	1.04	-2.09	0.07232	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00580	0.0019	N	0.05158	-0.105	0.09310	N	1	B;B	0.21225	0.001;0.053	B;B	0.26517	0.002;0.07	T	0.46748	-0.9169	9	0.52906	T	0.07	.	2.3597	0.04304	0.5631:0.0:0.1985:0.2384	.	225;226	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	V	226	ENSP00000261560:I226V	ENSP00000261560:I226V	I	+	1	0	ZNF430	21031630	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.127000	0.10547	-1.622000	0.01560	-1.685000	0.00733	ATT	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463539.1		+	ENST00000261560.5	Missense_Mutation	SNP	19 : 21239790 - 21239790 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	198	40
TMEM41B	440026	broad.mit.edu	37	11	9335893	9335893	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9335893C>T	ENST00000528080.1	-	1	434	c.96G>A	c.(94-96)gcG>gcA	p.A32A	TMEM41B_ENST00000533723.1_Silent_p.A32A|TMEM41B_ENST00000527813.1_Silent_p.A32A	NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	32						integral to membrane				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		TGCTGCCAGGCGCCGCGAGAC	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	11	11			NA	NA	11		NA											NA				9335893		2189	4265	6454	SO:0001819	synonymous_variant			D26067	CCDS31424.1, CCDS53600.1	11p15.3	2008-02-05			ENSG00000166471	ENSG00000166471	440026	440026			28948	protein-coding gene	gene with protein product					NA	7584026, 7584028	Standard		NM_015012	NA	Approved	KIAA0033	uc001mhn.2	Q5BJD5	OTTHUMG00000165719	ENST00000528080.1:c.96G>A	11.37:g.9335893C>T		NA	D3DQU9|Q15055|Q4G0P0	37	CCDS31424.1																																																																																			TMEM41B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385940.2		-	ENST00000528080.1	Silent	SNP	11 : 9335893 - 9335893 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	76	6
SLC12A7	10723	broad.mit.edu	37	5	1052522	1052522	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1052522G>T	ENST00000264930.5	-	24	3248	c.3205C>A	c.(3205-3207)Ctc>Atc	p.L1069I		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	1069					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CTGACCAGGAGGACTCTGTTC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	102	103			NA	NA	5		NA											NA				1052522		2203	4299	6502	SO:0001583	missense			AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504	10723	10723		Solute carriers	10915	protein-coding gene	gene with protein product		604879			NA	10347194	Standard	NM_006598	NM_006598	NA	Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.3205C>A	5.37:g.1052522G>T	ENSP00000264930:p.Leu1069Ile	NA	A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	37	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.005878	0.54254	.	.	ENSG00000113504	ENST00000264930	T	0.57107	0.42	3.88	3.0	0.34707	.	0.000000	0.64402	D	0.000002	T	0.53594	0.1806	M	0.73430	2.235	0.46725	D	0.999177	P	0.41947	0.766	P	0.46144	0.505	T	0.50533	-0.8817	10	0.40728	T	0.16	.	5.193	0.15220	0.1123:0.0:0.6865:0.2012	.	1069	Q9Y666	S12A7_HUMAN	I	1069	ENSP00000264930:L1069I	ENSP00000264930:L1069I	L	-	1	0	SLC12A7	1105522	1.000000	0.71417	0.484000	0.27391	0.990000	0.78478	5.150000	0.64869	0.747000	0.32809	0.491000	0.48974	CTC	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366446.2		-	ENST00000264930.5	Missense_Mutation	SNP	5 : 1052522 - 1052522 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	732	61
EPG5	57724	broad.mit.edu	37	18	43529485	43529485	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43529485C>T	ENST00000282041.5	-	5	1496	c.1462G>A	c.(1462-1464)Gct>Act	p.A488T		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	488					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CTAACACCAGCGGGGCATCGA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	82	83			NA	NA	18		NA											NA				43529485		1861	4097	5958	SO:0001583	missense			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223	57724	57724			29331	protein-coding gene	gene with protein product		615068	KIAA1632	KIAA1632	NA	10997877, 20550938	Standard	NM_020964	XM_005258323	NA	Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.1462G>A	18.37:g.43529485C>T	ENSP00000282041:p.Ala488Thr	NA	A2BDF3|Q9H8C8	37	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	34	5.405655	0.96051	.	.	ENSG00000152223	ENST00000282041	T	0.80909	-1.43	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000001	D	0.88507	0.6455	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.89111	0.3496	10	0.72032	D	0.01	-11.7532	19.1922	0.93671	0.0:1.0:0.0:0.0	.	488;488	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	T	488	ENSP00000282041:A488T	ENSP00000282041:A488T	A	-	1	0	EPG5	41783483	1.000000	0.71417	0.945000	0.38365	0.892000	0.51952	5.575000	0.67430	2.607000	0.88179	0.650000	0.86243	GCT	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445081.1		-	ENST00000282041.5	Missense_Mutation	SNP	18 : 43529485 - 43529485 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	53
MSL1	339287	broad.mit.edu	37	17	38282635	38282635	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38282635G>A	ENST00000398532.4	+	2	1283	c.968G>A	c.(967-969)gGg>gAg	p.G323E	MSL1_ENST00000577454.1_Missense_Mutation_p.G323E|MSL1_ENST00000578648.1_Missense_Mutation_p.G323E|MSL1_ENST00000579565.1_Missense_Mutation_p.G60E	NM_001012241.1	NP_001012241.1	Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	NA					histone H4-K16 acetylation	MSL complex				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						TTCTCATGTGGGCGGAGTGGA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	65	65			NA	NA	17		NA											NA				38282635		1939	4137	6076	SO:0001583	missense				CCDS45670.1	17q21.1	2011-03-21			ENSG00000188895	ENSG00000188895	339287	339287			27905	protein-coding gene	gene with protein product		614801			NA	16227571, 16543150	Standard	NM_001012241	NM_001012241	NA	Approved	hMSL1, MSL-1, DKFZp686P24239	uc002hua.4	Q68DK7		ENST00000398532.4:c.968G>A	17.37:g.38282635G>A	ENSP00000381543:p.Gly323Glu	NA	Q0VF46|Q69Z03	37		.	.	.	.	.	.	.	.	.	.	G	16.07	3.018305	0.54576	.	.	ENSG00000188895	ENST00000339569;ENST00000398532	.	.	.	5.89	5.89	0.94794	.	0.136028	0.64402	D	0.000002	T	0.57961	0.2089	N	0.08118	0	0.50313	D	0.999862	D	0.71674	0.998	D	0.64321	0.924	T	0.60786	-0.7194	9	0.32370	T	0.25	-13.4448	19.8722	0.96854	0.0:0.0:1.0:0.0	.	323	Q68DK7	MSL1_HUMAN	E	60;323	.	ENSP00000341409:G60E	G	+	2	0	MSL1	35536161	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.496000	0.73670	2.793000	0.96121	0.655000	0.94253	GGG	MSL1-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000447409.2		+	ENST00000398532.4	Missense_Mutation	SNP	17 : 38282635 - 38282635 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	184	27
DCP1B	196513	broad.mit.edu	37	12	2064720	2064720	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2064720T>C	ENST00000540622.1	-	3	209	c.151A>G	c.(151-153)Acc>Gcc	p.T51A	DCP1B_ENST00000280665.6_Missense_Mutation_p.T177A|DCP1B_ENST00000541700.1_Intron|DCP1B_ENST00000397173.4_Missense_Mutation_p.T75A			Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	177					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			TCAGAACAGGTTTTACACTGA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	150	151			NA	NA	12		NA											NA				2064720		2203	4300	6503	SO:0001583	missense			AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065	196513	196513			24451	protein-coding gene	gene with protein product		609843	DCP1 decapping enzyme homolog B (S. cerevisiae)		NA	12417715, 15067023	Standard	NM_152640	NM_152640	NA	Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000540622.1:c.151A>G	12.37:g.2064720T>C	ENSP00000444374:p.Thr51Ala	NA	Q86XH9|Q96BP8|Q96MZ8	37		.	.	.	.	.	.	.	.	.	.	T	18.03	3.532341	0.64972	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.18502	2.22;2.21;2.21	5.73	3.21	0.36854	.	0.236512	0.43919	D	0.000515	T	0.12135	0.0295	L	0.57536	1.79	0.32763	N	0.504865	P;B	0.38788	0.647;0.278	B;B	0.30179	0.091;0.112	T	0.18650	-1.0330	10	0.42905	T	0.14	-21.607	3.3778	0.07243	0.1345:0.0739:0.1399:0.6516	.	75;177	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	A	177;75;51	ENSP00000280665:T177A;ENSP00000380358:T75A;ENSP00000444374:T51A	ENSP00000280665:T177A	T	-	1	0	DCP1B	1934981	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.953000	0.29162	0.978000	0.38470	0.533000	0.62120	ACC	DCP1B-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000398246.1		-	ENST00000540622.1	Missense_Mutation	SNP	12 : 2064720 - 2064720 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	672	94
COL6A2	1292	broad.mit.edu	37	21	47538546	47538546	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47538546G>T	ENST00000300527.4	+	13	1239	c.1135G>T	c.(1135-1137)Gga>Tga	p.G379*	COL6A2_ENST00000310645.5_Nonsense_Mutation_p.G379*|COL6A2_ENST00000397763.1_Nonsense_Mutation_p.G379*|COL6A2_ENST00000357838.4_Nonsense_Mutation_p.G379*|COL6A2_ENST00000409416.1_Nonsense_Mutation_p.G379*	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	379	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TGGCCGCCCAGGACGCAGAGG	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	30	28			NA	NA	21		NA											NA				47538546		2199	4295	6494	SO:0001587	stop_gained			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173	NA	1292		Collagens	2212	protein-coding gene	gene with protein product		120240			NA		Standard		NM_001849	NA	Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1135G>T	21.37:g.47538546G>T	ENSP00000300527:p.Gly379*	NA	Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	37	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	39	7.405156	0.98262	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	.	.	.	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.3025	16.6052	0.84826	0.0:0.0:1.0:0.0	.	.	.	.	X	379	.	ENSP00000300527:G379X	G	+	1	0	COL6A2	46362974	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.715000	0.84713	2.151000	0.67156	0.591000	0.81541	GGA	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206971.1		+	ENST00000300527.4	Nonsense_Mutation	SNP	21 : 47538546 - 47538546 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	178	38
CPT1B	1375	broad.mit.edu	37	22	51009709	51009709	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51009709A>C	ENST00000360719.2	-	15	1890	c.1753T>G	c.(1753-1755)Ttc>Gtc	p.F585V	CPT1B_ENST00000312108.7_Missense_Mutation_p.F585V|CPT1B_ENST00000395650.2_Missense_Mutation_p.F585V|CPT1B_ENST00000434492.2_Missense_Mutation_p.F380V|CPT1B_ENST00000440709.1_Missense_Mutation_p.F504V|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000457250.1_Missense_Mutation_p.F551V|CPT1B_ENST00000405237.3_Missense_Mutation_p.F585V	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	585					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		GTCAGGCAGAACTTACCCCTG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(170;988 1933 25577 30295 48163)							NA				0													87	79	82			NA	NA	22		NA											NA				51009709		2203	4300	6503	SO:0001583	missense			U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560	1375	1375			2329	protein-coding gene	gene with protein product		601987			NA	9070950	Standard	NM_152246	NM_152245	NA	Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1753T>G	22.37:g.51009709A>C	ENSP00000353945:p.Phe585Val	NA	Q13389|Q99655|Q9BY90	37	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.377009	0.82682	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	D;D;D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49	5.82	3.67	0.42095	.	0.048406	0.85682	N	0.000000	D	0.92708	0.7682	M	0.77712	2.385	0.80722	D	1	B;D;D;D	0.89917	0.248;0.979;1.0;1.0	B;D;D;D	0.77004	0.064;0.94;0.989;0.984	D	0.91723	0.5390	10	0.87932	D	0	-29.2963	6.6287	0.22845	0.762:0.1573:0.0807:0.0	.	504;551;380;585	E9PCP2;B7Z4U4;A2RRE8;Q92523	.;.;.;CPT1B_HUMAN	V	585;585;585;551;504;380;585	ENSP00000385486:F585V;ENSP00000312189:F585V;ENSP00000353945:F585V;ENSP00000409342:F551V;ENSP00000414713:F504V;ENSP00000410966:F380V;ENSP00000379011:F585V	ENSP00000312189:F585V	F	-	1	0	CPT1B	49356575	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.868000	0.69605	1.002000	0.39104	0.459000	0.35465	TTC	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317264.5		-	ENST00000360719.2	Missense_Mutation	SNP	22 : 51009709 - 51009709 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	75
IRF6	3664	broad.mit.edu	37	1	209963840	209963840	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209963840C>T	ENST00000367021.3	-	7	1232	c.1060G>A	c.(1060-1062)Gat>Aat	p.D354N	IRF6_ENST00000542854.1_Splice_Site_p.D259N	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	354					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		AATGACTTACCGCTAAGGAAT	0.473		NA								HNSCC(57;0.16)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ASN/ASP,ASN/ASP	0,4406		0,0,2203	67	62	64		775,1060	5.8	1	1		64	4,8596	3.7+/-12.6	0,4,4296	yes	missense-near-splice,missense-near-splice	IRF6	NM_001206696.1,NM_006147.3	23,23	0,4,6499	TT,TC,CC	NA	0.0465,0.0,0.0308	benign,benign	259/373,354/468	209963840	4,13002	2203	4300	6503	SO:0001630	splice_region_variant			AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595	3664	3664			6121	protein-coding gene	gene with protein product		607199	Van der Woude syndrome	VWS, LPS	NA	12219090	Standard	NM_006147	NM_006147	NA	Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.1060+1G>A	1.37:g.209963840C>T		NA	D3DT90	37	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922566	0.52653	0.0	4.65E-4	ENSG00000117595	ENST00000367021;ENST00000542854	D;D	0.94966	-3.57;-3.57	5.75	5.75	0.90469	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.407669	0.31461	N	0.007618	D	0.90943	0.7153	L	0.35542	1.07	0.58432	D	0.999995	B	0.31910	0.346	B	0.29663	0.105	D	0.88126	0.2835	9	.	.	.	.	19.9598	0.97242	0.0:1.0:0.0:0.0	.	354	O14896	IRF6_HUMAN	N	354;259	ENSP00000355988:D354N;ENSP00000440532:D259N	.	D	-	1	0	IRF6	208030463	1.000000	0.71417	1.000000	0.80357	0.157000	0.22087	7.311000	0.78958	2.716000	0.92895	0.655000	0.94253	GAT	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088827.1	Missense_Mutation	-	ENST00000367021.3	Splice_Site	SNP	1 : 209963840 - 209963840 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	319	75
REST	5978	broad.mit.edu	37	4	57796239	57796239	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57796239G>T	ENST00000309042.7	+	4	1529	c.1215G>T	c.(1213-1215)caG>caT	p.Q405H		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	405	Lys-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					GTAATCTACAGTATCACTTCA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	144	145			NA	NA	4		NA											NA				57796239		2203	4300	6503	SO:0001583	missense			U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093	5978	5978			9966	protein-coding gene	gene with protein product		600571			NA	7871435, 7697725	Standard	NM_005612	NM_005612	NA	Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.1215G>T	4.37:g.57796239G>T	ENSP00000311816:p.Gln405His	NA	A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	37	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.547197	0.65311	.	.	ENSG00000084093	ENST00000456010;ENST00000309042;ENST00000358605	T	0.42900	0.96	5.8	1.01	0.19927	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000008	T	0.43567	0.1253	L	0.54323	1.7	0.53005	D	0.999968	D;P	0.61697	0.99;0.89	P;B	0.52424	0.698;0.286	T	0.28870	-1.0030	10	0.72032	D	0.01	-13.699	6.4542	0.21920	0.3222:0.114:0.5638:0.0	.	382;405	F8WAN5;Q13127	.;REST_HUMAN	H	405;405;382	ENSP00000311816:Q405H	ENSP00000311816:Q405H	Q	+	3	2	REST	57490996	1.000000	0.71417	0.991000	0.47740	0.883000	0.51084	2.740000	0.47418	-0.130000	0.11599	-0.175000	0.13238	CAG	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250691.2		+	ENST00000309042.7	Missense_Mutation	SNP	4 : 57796239 - 57796239 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	743	116
TM9SF2	9375	broad.mit.edu	37	13	100193890	100193890	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:100193890A>C	ENST00000376387.4	+	9	1176	c.986A>C	c.(985-987)gAt>gCt	p.D329A		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	329					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					CTGCACAAAGATATTGCTAGA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													223	202	209			NA	NA	13		NA											NA				100193890		2203	4300	6503	SO:0001583	missense			U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304	9375	9375			11865	protein-coding gene	gene with protein product		604678			NA	9729438	Standard		NM_004800	NA	Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.986A>C	13.37:g.100193890A>C	ENSP00000365567:p.Asp329Ala	NA	A8K399|Q2TAY5	37	CCDS9493.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.828309	0.90955	.	.	ENSG00000125304	ENST00000376387	T	0.61742	0.08	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.85691	0.5755	H	0.99058	4.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91589	0.5285	10	0.87932	D	0	-36.901	15.1335	0.72545	1.0:0.0:0.0:0.0	.	295;329	E9PHW5;Q99805	.;TM9S2_HUMAN	A	329	ENSP00000365567:D329A	ENSP00000365567:D329A	D	+	2	0	TM9SF2	98991891	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.215000	0.95146	1.965000	0.57142	0.477000	0.44152	GAT	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045602.3		+	ENST00000376387.4	Missense_Mutation	SNP	13 : 100193890 - 100193890 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	621	130
PER2	8864	broad.mit.edu	37	2	239161903	239161903	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239161903G>A	ENST00000254657.3	-	19	3040	c.2761C>T	c.(2761-2763)Ccc>Tcc	p.P921S	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	921	Pro-rich.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		AAGGCCTGGGGCAGGTTTGGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	47	45			NA	NA	2		NA											NA				239161903		2203	4300	6503	SO:0001583	missense			AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326	8864	8864			8846	protein-coding gene	gene with protein product		603426	period (Drosophila) homolog 2, period homolog 2 (Drosophila)		NA	9427249, 17218255	Standard	NM_022817	NM_022817	NA	Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.2761C>T	2.37:g.239161903G>A	ENSP00000254657:p.Pro921Ser	NA	A2I2P7|Q4ZG49|Q9UQ45	37	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	G	5.974	0.363685	0.11296	.	.	ENSG00000132326	ENST00000254657	T	0.12569	2.67	3.89	3.89	0.44902	.	0.717806	0.10729	U	0.640805	T	0.11153	0.0272	L	0.38838	1.175	0.31370	N	0.680264	B;B	0.34290	0.447;0.192	B;B	0.28638	0.092;0.033	T	0.05194	-1.0900	10	0.14656	T	0.56	-28.9827	14.1684	0.65493	0.0:0.0:1.0:0.0	.	921;921	B4DH14;O15055	.;PER2_HUMAN	S	921	ENSP00000254657:P921S	ENSP00000254657:P921S	P	-	1	0	PER2	238826642	0.997000	0.39634	0.939000	0.37840	0.168000	0.22595	2.642000	0.46596	2.102000	0.63906	0.549000	0.68633	CCC	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257167.1		-	ENST00000254657.3	Missense_Mutation	SNP	2 : 239161903 - 239161903 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	506	78
CNTN4	152330	broad.mit.edu	37	3	3067840	3067840	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:3067840G>A	ENST00000397461.1	+	14	1925	c.1541G>A	c.(1540-1542)aGt>aAt	p.S514N	CNTN4_ENST00000448906.2_Missense_Mutation_p.S186N|CNTN4_ENST00000358480.3_Missense_Mutation_p.S295N|CNTN4_ENST00000397459.2_Missense_Mutation_p.S186N|CNTN4_ENST00000418658.1_Missense_Mutation_p.S514N|CNTN4_ENST00000427331.1_Missense_Mutation_p.S514N	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	514	Ig-like C2-type 6.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GTTGGAGAGAGTATTGTTTTA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													192	162	172			NA	NA	3		NA											NA				3067840		2203	4300	6503	SO:0001583	missense			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619	152330	152330		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	2174	protein-coding gene	gene with protein product		607280			NA	8586965, 12202991	Standard		NM_175607	NA	Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1541G>A	3.37:g.3067840G>A	ENSP00000380602:p.Ser514Asn	NA	Q8IX14|Q8TC35	37	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819485	0.50633	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79;2.79	4.99	4.99	0.66335	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.29620	0.0739	M	0.64260	1.97	0.80722	D	1	P;D;D	0.76494	0.918;0.996;0.999	P;D;D	0.77557	0.835;0.977;0.99	T	0.03287	-1.1052	10	0.18276	T	0.48	.	18.2793	0.90092	0.0:0.0:1.0:0.0	.	514;514;514	Q8IWV2-3;B3KTK4;Q8IWV2	.;.;CNTN4_HUMAN	N	514;514;514;295;186;186	ENSP00000396010:S514N;ENSP00000380602:S514N;ENSP00000413642:S514N;ENSP00000351267:S295N;ENSP00000380600:S186N;ENSP00000392077:S186N	ENSP00000351267:S295N	S	+	2	0	CNTN4	3042840	1.000000	0.71417	0.981000	0.43875	0.155000	0.21991	9.247000	0.95444	2.301000	0.77427	0.561000	0.74099	AGT	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239236.2		+	ENST00000397461.1	Missense_Mutation	SNP	3 : 3067840 - 3067840 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	268	50
TECTA	7007	broad.mit.edu	37	11	120998829	120998829	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120998829C>T	ENST00000392793.1	+	9	2414	c.2143C>T	c.(2143-2145)Ctc>Ttc	p.L715F	TECTA_ENST00000264037.2_Missense_Mutation_p.L715F			O75443	TECTA_HUMAN	tectorin alpha	715	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CGTGTGCCTGCTCAGCCAGAA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	71	76			NA	NA	11		NA											NA				120998829		2203	4299	6502	SO:0001583	missense			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927	7007	7007			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21	NA	9503015, 9590290	Standard	NM_005422	NM_005422	NA	Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2143C>T	11.37:g.120998829C>T	ENSP00000376543:p.Leu715Phe	NA		37	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.031115	0.35797	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.60920	0.15;0.15	5.67	2.47	0.30058	von Willebrand factor, type D domain (3);	0.410318	0.26016	N	0.026850	T	0.55657	0.1934	L	0.44542	1.39	0.28346	N	0.921119	P	0.36535	0.557	P	0.44732	0.459	T	0.56019	-0.8048	10	0.59425	D	0.04	.	12.1335	0.53957	0.1003:0.4443:0.4554:0.0	.	715	O75443	TECTA_HUMAN	F	715	ENSP00000376543:L715F;ENSP00000264037:L715F	ENSP00000264037:L715F	L	+	1	0	TECTA	120504039	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	1.883000	0.39658	0.717000	0.32145	-0.175000	0.13238	CTC	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313850.1		+	ENST00000392793.1	Missense_Mutation	SNP	11 : 120998829 - 120998829 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	464	81
SH3D19	152503	broad.mit.edu	37	4	152096417	152096417	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:152096417C>A	ENST00000409598.4	-	7	1266	c.99G>T	c.(97-99)aaG>aaT	p.K33N	SH3D19_ENST00000427414.2_Missense_Mutation_p.K33N|SH3D19_ENST00000409252.2_Missense_Mutation_p.K33N|SH3D19_ENST00000514152.1_Missense_Mutation_p.K33N|SH3D19_ENST00000424281.1_Missense_Mutation_p.K33N|SH3D19_ENST00000455740.1_Missense_Mutation_p.K33N|SH3D19_ENST00000304527.4_Missense_Mutation_p.K33N			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	33					cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TTTCTGGTTTCTTGGGCAGTC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	130	128			NA	NA	4		NA											NA				152096417		2203	4300	6503	SO:0001583	missense			BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686	152503	152503			30418	protein-coding gene	gene with protein product	EEN binding protein	608674			NA	12477932	Standard	NM_001009555	NM_001009555	NA	Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409598.4:c.99G>T	4.37:g.152096417C>A	ENSP00000387030:p.Lys33Asn	NA	B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	37	CCDS47144.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349846	0.61183	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.06768	3.26;3.26;3.26;3.26;3.26;3.26;3.26	6.07	4.36	0.52297	.	1.529900	0.03461	N	0.212118	T	0.18045	0.0433	L	0.54323	1.7	0.31061	N	0.714097	B;P;P	0.41232	0.434;0.57;0.743	B;B;P	0.45232	0.218;0.389;0.474	T	0.17289	-1.0374	10	0.72032	D	0.01	-3.7997	12.0101	0.53282	0.0:0.8089:0.0:0.1911	.	33;33;33	Q5HYK7;Q5HYK7-2;Q5HYK7-3	SH319_HUMAN;.;.	N	33	ENSP00000387030:K33N;ENSP00000302913:K33N;ENSP00000416708:K33N;ENSP00000404542:K33N;ENSP00000415694:K33N;ENSP00000386848:K33N;ENSP00000423449:K33N	ENSP00000302913:K33N	K	-	3	2	SH3D19	152315867	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	0.764000	0.26532	0.900000	0.36469	0.655000	0.94253	AAG	SH3D19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333667.2		-	ENST00000409598.4	Missense_Mutation	SNP	4 : 152096417 - 152096417 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	870	154
NPR1	4881	broad.mit.edu	37	1	153657450	153657450	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153657450C>A	ENST00000368680.3	+	8	1967	c.1495C>A	c.(1495-1497)Ctg>Atg	p.L499M		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	499					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GAAGATGCAGCTGGAGAAGGA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(141;1349 1870 15144 15830 40702)							NA				0													79	76	77			NA	NA	1		NA											NA				153657450		2203	4300	6503	SO:0001583	missense			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418	4881	4881			7943	protein-coding gene	gene with protein product	guanylate cyclase A	108960	atrionatriuretic peptide receptor A, natriuretic peptide receptor A	ANPRA, NPRA	NA	1979052	Standard	NM_000906	NM_000906	NA	Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.1495C>A	1.37:g.153657450C>A	ENSP00000357669:p.Leu499Met	NA	B0ZBF0|Q5SR08|Q6P4Q3	37	CCDS1051.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.512980	0.64522	.	.	ENSG00000169418	ENST00000368680;ENST00000428723	D	0.83914	-1.78	4.86	3.96	0.45880	.	0.000000	0.53938	D	0.000048	D	0.87637	0.6227	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.984	D	0.87090	0.2172	10	0.38643	T	0.18	.	10.9002	0.47047	0.0:0.9088:0.0:0.0912	.	4;499	B7Z4Y7;P16066	.;ANPRA_HUMAN	M	499;4	ENSP00000357669:L499M	ENSP00000357669:L499M	L	+	1	2	NPR1	151924074	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.911000	0.48774	1.282000	0.44496	-0.136000	0.14681	CTG	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090034.1		+	ENST00000368680.3	Missense_Mutation	SNP	1 : 153657450 - 153657450 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	663	190
ATP2A2	488	broad.mit.edu	37	12	110784169	110784169	+	Missense_Mutation	SNP	C	C	T	rs151157805		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110784169C>T	ENST00000539276.2	+	20	3132	c.3023C>T	c.(3022-3024)tCg>tTg	p.S1008L	ATP2A2_ENST00000308664.6_Intron|ATP2A2_ENST00000395494.2_Missense_Mutation_p.S981L			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	1008					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGCTCGTTCTCGGCATGCACC	0.527		NA											C	1	5e-04	NA	NA	2184	NA	1	,	,	NA	2e-04	0.0013	NA	NA	5e-04	1	EXOME	NA	NA	9e-04	SNP								NA				0								C	,LEU/SER	0,4406		0,0,2203	91	73	79		,3023	4.3	0.9	12	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	yes	intron,missense	ATP2A2	NM_001681.3,NM_170665.3	,145	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,benign	,1008/1043	110784169	1,13005	2203	4300	6503	SO:0001583	missense				CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	488	488	3.6.3.8	ATPases / P-type	812	protein-coding gene	gene with protein product	sarcoplasmic/endoplasmic reticulum calcium ATPase 2, calcium pump 2	108740		ATP2B, DAR	NA	10080178	Standard	NM_001681	NM_170665	NA	Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.3023C>T	12.37:g.110784169C>T	ENSP00000440045:p.Ser1008Leu	NA	A6NDN7|B4DF05|P16614|Q86VJ2	37	CCDS9144.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.88	2.070835	0.36566	0.0	1.16E-4	ENSG00000174437	ENST00000395494;ENST00000539276	D;D	0.94723	-3.5;-3.47	6.17	4.32	0.51571	.	0.230717	0.46442	D	0.000287	D	0.86121	0.5857	N	0.08118	0	0.36457	D	0.866463	B;B	0.15141	0.001;0.012	B;B	0.09377	0.001;0.004	T	0.80885	-0.1182	9	.	.	.	.	13.1912	0.59711	0.1222:0.7457:0.1321:0.0	.	981;1008	P16615-4;P16615	.;AT2A2_HUMAN	L	981;1008	ENSP00000378872:S981L;ENSP00000440045:S1008L	.	S	+	2	0	ATP2A2	109268552	1.000000	0.71417	0.865000	0.33974	0.995000	0.86356	3.238000	0.51352	0.894000	0.36317	0.655000	0.94253	TCG	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403539.1		+	ENST00000539276.2	Missense_Mutation	SNP	12 : 110784169 - 110784169 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	78
ITIH5	80760	broad.mit.edu	37	10	7605113	7605113	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7605113T>G	ENST00000256861.6	-	14	2840	c.2762A>C	c.(2761-2763)gAt>gCt	p.D921A	ITIH5_ENST00000446830.2_Missense_Mutation_p.D703A|ITIH5_ENST00000298441.6_Missense_Mutation_p.D707A|ITIH5_ENST00000397146.2_Intron	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	921					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TGCCAGGTAATCCTTGTACTC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													191	162	172			NA	NA	10		NA											NA				7605113		2203	4300	6503	SO:0001583	missense					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243	80760	80760			21449	protein-coding gene	gene with protein product		609783	inter-alpha (globulin) inhibitor H5		NA	14744536	Standard	NM_030569	NM_001001851	NA	Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.2762A>C	10.37:g.7605113T>G	ENSP00000256861:p.Asp921Ala	NA	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	37		.	.	.	.	.	.	.	.	.	.	T	16.31	3.088393	0.55968	.	.	ENSG00000123243	ENST00000256861;ENST00000298441;ENST00000446830	T;T;T	0.03580	4.08;3.88;3.91	5.79	4.66	0.58398	.	0.198444	0.51477	D	0.000086	T	0.12689	0.0308	.	.	.	0.80722	D	1	D;D	0.61080	0.981;0.989	P;P	0.57324	0.662;0.818	T	0.00299	-1.1836	9	0.87932	D	0	-16.5541	11.7484	0.51835	0.0:0.0689:0.0:0.9311	.	921;707	Q86UX2;Q86UX2-3	ITIH5_HUMAN;.	A	921;707;703	ENSP00000256861:D921A;ENSP00000298441:D707A;ENSP00000387969:D703A	ENSP00000256861:D921A	D	-	2	0	ITIH5	7645119	1.000000	0.71417	0.053000	0.19242	0.140000	0.21249	5.835000	0.69368	1.023000	0.39654	0.528000	0.53228	GAT	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000046688.1		-	ENST00000256861.6	Missense_Mutation	SNP	10 : 7605113 - 7605113 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	921	181
MT1M	4499	broad.mit.edu	37	16	56667670	56667670	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56667670C>A	ENST00000379818.3	+	3	601	c.102C>A	c.(100-102)tgC>tgA	p.C34*		NM_176870.2	NP_789846.1	Q8N339	MT1M_HUMAN	metallothionein 1M	34	Alpha.						metal ion binding	p.C34C(2)		endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5						CAGGCTGCTGCTCCTGCTGCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - coding silent(2)	lung(1)|endometrium(1)											134	137	136			NA	NA	16		NA											NA				56667670		2198	4300	6498	SO:0001587	stop_gained			AF136177	CCDS42166.1	16q13	2008-02-05				ENSG00000205364	4499	4499		Metallothioneins	14296	protein-coding gene	gene with protein product		156357	metallothionein 1K	MT1, MT1K	NA	2286373, 8049263	Standard	NM_176870	NM_176870	NA	Approved		uc002ejn.3	Q8N339		ENST00000379818.3:c.102C>A	16.37:g.56667670C>A	ENSP00000369146:p.Cys34*	NA	Q8TDN3	37	CCDS42166.1	.	.	.	.	.	.	.	.	.	.	C	37	6.037933	0.97226	.	.	ENSG00000205364	ENST00000379818	.	.	.	2.41	2.41	0.29592	.	0.000000	0.64402	U	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0436	0.42173	0.0:1.0:0.0:0.0	.	.	.	.	X	34	.	ENSP00000369146:C34X	C	+	3	2	MT1M	55225171	0.698000	0.27777	0.998000	0.56505	0.557000	0.35523	-0.062000	0.11674	1.338000	0.45544	0.461000	0.40582	TGC	MT1M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434359.1		+	ENST00000379818.3	Nonsense_Mutation	SNP	16 : 56667670 - 56667670 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1175	183
ZNF263	10127	broad.mit.edu	37	16	3338556	3338556	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3338556G>T	ENST00000574253.1	+	2	696				ZNF263_ENST00000219069.5_Missense_Mutation_p.R291I|ZNF263_ENST00000538765.1_Intron			O14978	ZN263_HUMAN	zinc finger protein 263	NA					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						CTGAGCCCCAGAGGCCCAGCT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	49	50			NA	NA	16		NA											NA				3338556		2197	4300	6497	SO:0001627	intron_variant			AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194	10127	10127		Zinc fingers, C2H2-type, -, -, -	13056	protein-coding gene	gene with protein product		604191			NA	9256059	Standard		NM_005741	NA	Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000574253.1:c.388-837G>T	16.37:g.3338556G>T		NA	B2R634|O43387|Q96H95	37		.	.	.	.	.	.	.	.	.	.	G	4.403	0.074462	0.08485	.	.	ENSG00000006194	ENST00000219069	T	0.05855	3.38	5.5	3.31	0.37934	.	0.552403	0.16687	N	0.203685	T	0.04363	0.0120	N	0.14661	0.345	0.09310	N	0.999994	B	0.22480	0.07	B	0.25759	0.063	T	0.38802	-0.9644	10	0.38643	T	0.18	.	8.8994	0.35485	0.1948:0.0:0.8052:0.0	.	291	O14978	ZN263_HUMAN	I	291	ENSP00000219069:R291I	ENSP00000219069:R291I	R	+	2	0	ZNF263	3278557	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.366000	0.20365	1.300000	0.44818	0.655000	0.94253	AGA	ZNF263-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000437561.1		+	ENST00000574253.1	Intron	SNP	16 : 3338556 - 3338556 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	196	30
FAM83A	84985	broad.mit.edu	37	8	124219674	124219674	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124219674G>A	ENST00000518448.1	+	5	3065	c.1051G>A	c.(1051-1053)Gcg>Acg	p.A351T	FAM83A_ENST00000318462.6_Missense_Mutation_p.A351T|FAM83A_ENST00000536633.1_Intron|FAM83A_ENST00000276699.6_Intron|FAM83A_ENST00000522648.1_Intron|FAM83A_ENST00000546351.1_Intron			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	351	Ser-rich.									breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AAGTGTGTCCGCGTCTTCAGG	0.731		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													8	10	10			NA	NA	8		NA											NA				124219674		2128	4194	6322	SO:0001583	missense			BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689	84985	84985			28210	protein-coding gene	gene with protein product					NA	22886303	Standard	NM_032899	XM_005251087	NA	Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.1051G>A	8.37:g.124219674G>A	ENSP00000428876:p.Ala351Thr	NA	Q71HL2|Q8N7I1|Q96I47	37	CCDS6340.1	.	.	.	.	.	.	.	.	.	.	G	1.717	-0.497489	0.04291	.	.	ENSG00000147689	ENST00000518448;ENST00000318462	T;T	0.07908	3.15;3.15	4.16	-5.41	0.02648	.	2.848170	0.01218	N	0.008039	T	0.04363	0.0120	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.37596	-0.9699	10	0.12430	T	0.62	0.1336	10.3161	0.43738	0.7465:0.0:0.1438:0.1097	.	351	Q86UY5	FA83A_HUMAN	T	351	ENSP00000428876:A351T;ENSP00000323034:A351T	ENSP00000323034:A351T	A	+	1	0	FAM83A	124288855	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.596000	0.05720	-1.745000	0.01337	-0.436000	0.05848	GCG	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381737.1		+	ENST00000518448.1	Missense_Mutation	SNP	8 : 124219674 - 124219674 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	197	35
B3GALNT2	148789	broad.mit.edu	37	1	235647766	235647766	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235647766G>A	ENST00000366600.3	-	4	655	c.427C>T	c.(427-429)Cga>Tga	p.R143*	B3GALNT2_ENST00000494378.1_5'UTR|B3GALNT2_ENST00000313984.3_Nonsense_Mutation_p.R184*	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	143					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			CTGACAACTCGATCCTCAGGC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													182	175	177			NA	NA	1		NA											NA				235647766		2203	4300	6503	SO:0001587	stop_gained			BC029564	CCDS1606.1, CCDS60453.1	1q42.3	2013-02-19	2006-06-14		ENSG00000162885	ENSG00000162885	148789	148789		Beta 3-glycosyltransferases	28596	protein-coding gene	gene with protein product		610194	UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2		NA	14724282	Standard	NM_152490	NM_001277155	NA	Approved	MGC39558	uc001hxc.3	Q8NCR0	OTTHUMG00000040468	ENST00000366600.3:c.427C>T	1.37:g.235647766G>A	ENSP00000355559:p.Arg143*	NA	Q59GR3|Q5TCI3|Q96AL7	37	CCDS1606.1	.	.	.	.	.	.	.	.	.	.	G	37	6.163459	0.97338	.	.	ENSG00000162885	ENST00000366599;ENST00000366600;ENST00000313984	.	.	.	4.74	4.74	0.60224	.	0.909002	0.09563	N	0.785247	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.8663	11.6206	0.51115	0.0:0.0:0.7763:0.2237	.	.	.	.	X	184;143;184	.	ENSP00000315678:R184X	R	-	1	2	B3GALNT2	233714389	0.992000	0.36948	0.943000	0.38184	0.574000	0.36063	2.212000	0.42835	2.582000	0.87167	0.655000	0.94253	CGA	B3GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097376.1		-	ENST00000366600.3	Nonsense_Mutation	SNP	1 : 235647766 - 235647766 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1177	297
CSTF1	1477	broad.mit.edu	37	20	54978770	54978770	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54978770C>T	ENST00000217109.4	+	6	1635	c.1283C>T	c.(1282-1284)tCg>tTg	p.S428L	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	428					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			TACCGGAGATCGACCACTGAC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	126	129			NA	NA	20		NA											NA				54978770		2203	4300	6503	SO:0001583	missense				CCDS13452.1	20q13.31	2013-01-10	2002-08-29		ENSG00000101138	ENSG00000101138	1477	1477		WD repeat domain containing	2483	protein-coding gene	gene with protein product		600369	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD		NA	1358884, 11257228	Standard	NM_001033521	NM_001033521	NA	Approved		uc002xxl.1	Q05048	OTTHUMG00000032791	ENST00000217109.4:c.1283C>T	20.37:g.54978770C>T	ENSP00000217109:p.Ser428Leu	NA		37	CCDS13452.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166648	0.57476	.	.	ENSG00000101138	ENST00000217109;ENST00000425890	T	0.57907	0.37	5.38	5.38	0.77491	WD40-repeat-containing domain (1);	0.054825	0.85682	D	0.000000	T	0.48259	0.1490	L	0.38175	1.15	0.58432	D	0.999999	B	0.15930	0.015	B	0.12156	0.007	T	0.43261	-0.9402	10	0.72032	D	0.01	-2.8483	19.5609	0.95371	0.0:1.0:0.0:0.0	.	428	Q05048	CSTF1_HUMAN	L	428;415	ENSP00000217109:S428L	ENSP00000217109:S428L	S	+	2	0	CSTF1	54412177	1.000000	0.71417	0.566000	0.28421	0.362000	0.29581	7.591000	0.82666	2.682000	0.91365	0.644000	0.83932	TCG	CSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079794.2		+	ENST00000217109.4	Missense_Mutation	SNP	20 : 54978770 - 54978770 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	731	30
C3orf58	205428	broad.mit.edu	37	3	143704517	143704517	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:143704517G>A	ENST00000495414.1	+	2	615	c.163G>A	c.(163-165)Gct>Act	p.A55T	C3orf58_ENST00000315691.3_Missense_Mutation_p.A264T|C3orf58_ENST00000441925.2_Missense_Mutation_p.A26T|C3orf58_ENST00000493396.1_Intron	NM_001134470.1	NP_001127942.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	264						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGTTGACCTCGCTTGGCAATT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													185	171	176			NA	NA	3		NA											NA				143704517		2203	4300	6503	SO:0001583	missense			AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744	205428	205428			28490	protein-coding gene	gene with protein product	deleted in autism 1, hypoxia and Akt induced stem cell factor	612200			NA	21283809, 23784961, 24269490	Standard	NM_173552	NM_173552	NA	Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000495414.1:c.163G>A	3.37:g.143704517G>A	ENSP00000417382:p.Ala55Thr	NA	B2RCF2	37	CCDS46929.1	.	.	.	.	.	.	.	.	.	.	G	34	5.328449	0.95733	.	.	ENSG00000181744	ENST00000315691;ENST00000495414;ENST00000492452;ENST00000441925	T	0.58652	0.32	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.77478	0.4136	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.982	T	0.80623	-0.1300	10	0.72032	D	0.01	.	18.5536	0.91075	0.0:0.0:1.0:0.0	.	55;264	B7Z1W3;Q8NDZ4	.;CC058_HUMAN	T	264;55;70;26	ENSP00000320081:A264T	ENSP00000320081:A264T	A	+	1	0	C3orf58	145187207	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.434000	0.97515	2.392000	0.81423	0.563000	0.77884	GCT	C3orf58-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355039.1		+	ENST00000495414.1	Missense_Mutation	SNP	3 : 143704517 - 143704517 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1034	195
SCUBE1	80274	broad.mit.edu	37	22	43623456	43623456	+	Silent	SNP	G	G	A	rs142424380	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43623456G>A	ENST00000360835.4	-	10	1257	c.1131C>T	c.(1129-1131)tgC>tgT	p.C377C		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	NA	EGF-like 9; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TGGTGTTGACGCAGCCCTGGT	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		2,4404	4.2+/-10.8	0,2,2201	79	63	68		1131	-1	1	22	dbSNP_134	68	0,8600		0,0,4300	no	coding-synonymous	SCUBE1	NM_173050.3		0,2,6501	AA,AG,GG	NA	0.0,0.0454,0.0154		377/989	43623456	2,13004	2203	4300	6503	SO:0001819	synonymous_variant				CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307	80274	80274			13441	protein-coding gene	gene with protein product		611746			NA	11087664	Standard	NM_173050	NM_173050	NA	Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.1131C>T	22.37:g.43623456G>A		NA	Q5R336	37	CCDS14048.1																																																																																			SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319582.3		-	ENST00000360835.4	Silent	SNP	22 : 43623456 - 43623456 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	217	43
DAB2	1601	broad.mit.edu	37	5	39383090	39383090	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:39383090G>A	ENST00000320816.6	-	10	1438	c.971C>T	c.(970-972)tCg>tTg	p.S324L	DAB2_ENST00000339788.6_Intron|DAB2_ENST00000509337.1_Missense_Mutation_p.S303L|DAB2_ENST00000545653.1_Missense_Mutation_p.S303L	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	324					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	p.S324*(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CGAGCTACTCGAATTCTCTTT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Nonsense(1)	large_intestine(1)											102	106	105			NA	NA	5		NA											NA				39383090		2203	4300	6503	SO:0001583	missense			U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071	1601	1601			2662	protein-coding gene	gene with protein product		601236	disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein), disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)		NA	8660969, 9620555	Standard	NM_001343	NM_001343	NA	Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.971C>T	5.37:g.39383090G>A	ENSP00000313391:p.Ser324Leu	NA	A6NES5|Q13598|Q9BTY0|Q9UK04	37	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	G	6.467	0.454341	0.12283	.	.	ENSG00000153071	ENST00000320816;ENST00000545653;ENST00000509337	T;T;T	0.34275	1.41;1.37;1.37	5.73	-0.829	0.10796	.	0.998658	0.08105	N	0.997037	T	0.12092	0.0294	N	0.00677	-1.265	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28964	-1.0027	10	0.26408	T	0.33	-0.1136	11.3431	0.49543	0.6031:0.0:0.3969:0.0	.	324;303	P98082;P98082-3	DAB2_HUMAN;.	L	324;303;303	ENSP00000313391:S324L;ENSP00000439919:S303L;ENSP00000426245:S303L	ENSP00000313391:S324L	S	-	2	0	DAB2	39418847	0.972000	0.33761	0.997000	0.53966	0.662000	0.39071	0.570000	0.23653	-0.060000	0.13132	-1.004000	0.02495	TCG	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367014.1		-	ENST00000320816.6	Missense_Mutation	SNP	5 : 39383090 - 39383090 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	521	23
CYP4Z1	199974	broad.mit.edu	37	1	47533229	47533229	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47533229T>G	ENST00000334194.3	+	1	70	c.67T>G	c.(67-69)Tct>Gct	p.S23A		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	23						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CCTCTGCATGTCTCTGCTGCT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	67	70			NA	NA	1		NA											NA				47533229		2203	4298	6501	SO:0001583	missense			AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160	199974	199974		Cytochrome P450s	20583	protein-coding gene	gene with protein product					NA	15059886	Standard	NM_178134	NM_178134	NA	Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.67T>G	1.37:g.47533229T>G	ENSP00000334246:p.Ser23Ala	NA	Q5VVE4	37	CCDS545.1	.	.	.	.	.	.	.	.	.	.	T	0.038	-1.297443	0.01364	.	.	ENSG00000186160	ENST00000334194	T	0.68903	-0.36	3.29	-0.545	0.11843	.	0.321368	0.22204	U	0.063190	T	0.33469	0.0864	N	0.02539	-0.55	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.25222	-1.0138	10	0.19147	T	0.46	.	8.8238	0.35043	0.0:0.0:0.3568:0.6432	.	23	Q86W10	CP4Z1_HUMAN	A	23	ENSP00000334246:S23A	ENSP00000334246:S23A	S	+	1	0	CYP4Z1	47305816	0.000000	0.05858	0.112000	0.21494	0.073000	0.16967	-0.537000	0.06128	0.036000	0.15547	0.378000	0.23410	TCT	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022020.1		+	ENST00000334194.3	Missense_Mutation	SNP	1 : 47533229 - 47533229 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	256	25
CPSF1	29894	broad.mit.edu	37	8	145625850	145625850	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145625850C>A	ENST00000349769.3	-	8	818	c.724G>T	c.(724-726)Gcc>Tcc	p.A242S		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	242					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			AGTGAGATGGCCACAATGGAG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(133;1088 1848 27708 34777 35269)							NA				0													103	100	101			NA	NA	8		NA											NA				145625850		2203	4300	6503	SO:0001583	missense			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894	29894	29894			2324	protein-coding gene	gene with protein product		606027	cleavage and polyadenylation specific factor 1, 160kD subunit		NA	7651824, 7590244	Standard	NM_013291	NM_013291	NA	Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.724G>T	8.37:g.145625850C>A	ENSP00000339353:p.Ala242Ser	NA	Q96AF0	37	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	C	32	5.167240	0.94768	.	.	ENSG00000071894	ENST00000349769	T	0.24350	1.86	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.56934	0.2019	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.80764	0.991;0.994;0.988	T	0.61618	-0.7026	10	0.66056	D	0.02	-15.0396	17.2687	0.87095	0.0:1.0:0.0:0.0	.	242;164;242	B4DEF4;D3DWL9;Q10570	.;.;CPSF1_HUMAN	S	242	ENSP00000339353:A242S	ENSP00000339353:A242S	A	-	1	0	CPSF1	145596658	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.771000	0.55318	2.686000	0.91538	0.650000	0.86243	GCC	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382422.2		-	ENST00000349769.3	Missense_Mutation	SNP	8 : 145625850 - 145625850 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	600	92
ALPK1	80216	broad.mit.edu	37	4	113360948	113360948	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113360948A>G	ENST00000458497.1	+	14	3737	c.3458A>G	c.(3457-3459)aAa>aGa	p.K1153R	ALPK1_ENST00000504176.2_Missense_Mutation_p.K1075R|ALPK1_ENST00000177648.9_Missense_Mutation_p.K1153R	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1153	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		ACAGAATACAAAGCCACAGAA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	70	70			NA	NA	4		NA											NA				113360948		2203	4300	6503	SO:0001583	missense			AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331	80216	80216			20917	protein-coding gene	gene with protein product	lymphocyte alpha-kinase	607347			NA	10021370, 10819331	Standard	NM_025144	NM_025144	NA	Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.3458A>G	4.37:g.113360948A>G	ENSP00000398048:p.Lys1153Arg	NA	Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	37	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	A	17.71	3.457223	0.63401	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.14144	2.53;2.53;2.53	5.05	3.86	0.44501	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.376195	0.29707	N	0.011410	T	0.20373	0.0490	N	0.17674	0.51	0.25132	N	0.990568	D;D;D	0.89917	0.996;1.0;0.971	D;D;P	0.77004	0.922;0.989;0.855	T	0.04796	-1.0926	10	0.45353	T	0.12	-14.5214	10.6883	0.45856	0.924:0.0:0.076:0.0	.	1075;1075;1153	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	R	1153;1153;1075	ENSP00000398048:K1153R;ENSP00000177648:K1153R;ENSP00000426044:K1075R	ENSP00000177648:K1153R	K	+	2	0	ALPK1	113580397	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.589000	0.46145	0.764000	0.33197	0.445000	0.29226	AAA	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256421.2		+	ENST00000458497.1	Missense_Mutation	SNP	4 : 113360948 - 113360948 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	214	9
MAML1	9794	broad.mit.edu	37	5	179201461	179201461	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179201461C>T	ENST00000292599.3	+	5	2897	c.2634C>T	c.(2632-2634)agC>agT	p.S878S	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	878					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAATGTCTAGCCCGCAATTCT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	37	36			NA	NA	5		NA											NA				179201461		2203	4300	6503	SO:0001819	synonymous_variant			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021	9794	9794			13632	protein-coding gene	gene with protein product	mastermind homolog	605424	mastermind (drosophila)-like 1		NA	11101851, 11390662	Standard	NM_014757	NM_014757	NA	Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.2634C>T	5.37:g.179201461C>T		NA	Q9NZ12	37	CCDS34315.1																																																																																			MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372316.2		+	ENST00000292599.3	Silent	SNP	5 : 179201461 - 179201461 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	334	85
FER	2241	broad.mit.edu	37	5	108168620	108168620	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108168620G>T	ENST00000281092.4	+	4	741	c.357G>T	c.(355-357)caG>caT	p.Q119H	FER_ENST00000536402.1_Missense_Mutation_p.Q119H|FER_ENST00000502752.1_3'UTR|FER_ENST00000438717.2_Intron	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	119	Important for interaction with membranes containing phosphoinositides.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GTGTTCATCAGCAGATAGAGG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(146;1051 1799 9836 27344 47401)							NA				0													173	154	160			NA	NA	5		NA											NA				108168620		2202	4300	6502	SO:0001583	missense			J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2241	2241	2.7.10.1	Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, SH2 domain containing	3655	protein-coding gene	gene with protein product	phosphoprotein NCP94, protein phosphatase 1, regulatory subunit 74	176942			NA		Standard	NM_005246	NM_005246	NA	Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.357G>T	5.37:g.108168620G>T	ENSP00000281092:p.Gln119His	NA	B2RCR4|B4DSQ2	37	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170539	0.78452	.	.	ENSG00000151422	ENST00000281092;ENST00000536402	T;T	0.44482	0.92;0.92	6.11	3.36	0.38483	.	0.052287	0.85682	D	0.000000	T	0.52158	0.1717	L	0.58101	1.795	0.80722	D	1	D;D	0.62365	0.991;0.976	P;P	0.57324	0.818;0.72	T	0.51309	-0.8722	10	0.66056	D	0.02	-11.7439	10.5961	0.45338	0.2783:0.0:0.7217:0.0	.	119;119	Q6PEJ9;P16591	.;FER_HUMAN	H	119	ENSP00000281092:Q119H;ENSP00000442627:Q119H	ENSP00000281092:Q119H	Q	+	3	2	FER	108196519	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.129000	0.57957	0.450000	0.26774	-0.136000	0.14681	CAG	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250664.1		+	ENST00000281092.4	Missense_Mutation	SNP	5 : 108168620 - 108168620 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	608	121
HEPH	9843	broad.mit.edu	37	X	65420511	65420511	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:65420511T>C	ENST00000419594.1	+	10	1620				HEPH_ENST00000441993.2_Missense_Mutation_p.V668A|HEPH_ENST00000519389.1_Missense_Mutation_p.V719A|HEPH_ENST00000336279.5_Missense_Mutation_p.V398A|HEPH_ENST00000374727.3_Missense_Mutation_p.V668A|HEPH_ENST00000343002.2_Missense_Mutation_p.V665A	NM_001282141.1	NP_001269070.1	Q9BQS7	HEPH_HUMAN	hephaestin	NA					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GGCAACACTGTGCAGCTTCAG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	103	126			NA	NA	X		NA											NA				65420511		2203	4300	6503	SO:0001627	intron_variant			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472	9843	9843			4866	protein-coding gene	gene with protein product		300167			NA	9988272, 9734811	Standard	NM_138737	NM_014799	NA	Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000419594.1:c.1511-2695T>C	X.37:g.65420511T>C		NA	B1AJX8|D3DVT7|O75180|Q6UW45|Q9C058	37		.	.	.	.	.	.	.	.	.	.	T	13.38	2.221411	0.39300	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000343002;ENST00000425114	D;D;D;D;D;D	0.99762	-6.67;-6.67;-6.67;-6.67;-6.67;-6.67	4.73	4.73	0.59995	Cupredoxin (2);	0.309310	0.31601	N	0.007363	D	0.98902	0.9628	L	0.52573	1.65	0.09310	N	0.999994	B;B	0.30179	0.14;0.271	B;B	0.26614	0.071;0.066	D	0.98994	1.0809	10	0.62326	D	0.03	.	12.2515	0.54601	0.0:0.0:0.0:1.0	.	719;665	E9PHN8;Q9BQS7	.;HEPH_HUMAN	A	719;668;398;668;665;622	ENSP00000430620:V719A;ENSP00000363859:V668A;ENSP00000337418:V398A;ENSP00000411687:V668A;ENSP00000343939:V665A;ENSP00000398078:V622A	ENSP00000337418:V398A	V	+	2	0	HEPH	65337236	0.968000	0.33430	0.978000	0.43139	0.961000	0.63080	7.559000	0.82265	1.569000	0.49696	0.486000	0.48141	GTG	HEPH-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000346498.1		+	ENST00000419594.1	Intron	SNP	X : 65420511 - 65420511 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	159	43
TENM3	55714	broad.mit.edu	37	4	183675695	183675695	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:183675695C>A	ENST00000511685.1	+	22	4298	c.4175C>A	c.(4174-4176)cCt>cAt	p.P1392H	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.P1392H					teneurin transmembrane protein 3	NA											NA						GTGGAATATCCTGTGGGGAAG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	57	57			NA	NA	4		NA											NA				183675695		2012	4174	6186	SO:0001583	missense			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336	55714	55714			29944	protein-coding gene	gene with protein product		610083	odz, odd Oz/ten-m homolog 3 (Drosophila)	ODZ3	NA	10331952, 10625539	Standard		NM_001080477	NA	Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.4175C>A	4.37:g.183675695C>A	ENSP00000424226:p.Pro1392His	NA		37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.499776	0.44455	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86497	-2.13;-2.13	5.65	5.65	0.86999	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	T	0.80093	0.4560	N	0.08118	0	0.40238	D	0.977923	B	0.26258	0.145	B	0.33196	0.159	T	0.75431	-0.3320	9	0.38643	T	0.18	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	1392	Q9P273	TEN3_HUMAN	H	1392	ENSP00000424226:P1392H;ENSP00000385276:P1392H	ENSP00000385276:P1392H	P	+	2	0	ODZ3	183912689	0.401000	0.25303	0.201000	0.23476	0.894000	0.52154	3.799000	0.55529	2.941000	0.99782	0.655000	0.94253	CCT	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361734.1		+	ENST00000511685.1	Missense_Mutation	SNP	4 : 183675695 - 183675695 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	143	19
COL11A1	1301	broad.mit.edu	37	1	103544316	103544316	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:103544316A>C	ENST00000370096.3	-	3	698	c.386T>G	c.(385-387)gTt>gGt	p.V129G	COL11A1_ENST00000512756.1_Missense_Mutation_p.V129G|COL11A1_ENST00000353414.4_Missense_Mutation_p.V129G|COL11A1_ENST00000358392.2_Missense_Mutation_p.V129G	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	129	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCCAACCTCAACACCAATTTG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	79	78			NA	NA	1		NA											NA				103544316		2203	4300	6503	SO:0001583	missense			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718	1301	1301		Collagens	2186	protein-coding gene	gene with protein product	collagen XI, alpha-1 polypeptide	120280		COLL6	NA	3182841	Standard	NM_080630	NM_080630	NA	Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.386T>G	1.37:g.103544316A>C	ENSP00000359114:p.Val129Gly	NA	B1ASK7|D3DT73|Q14034|Q9UIT4|Q9UIT5|Q9UIT6	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	A	18.72	3.684905	0.68157	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239;ENST00000447608	T;T;T;T;T;T	0.03181	4.02;4.02;4.02;4.02;4.02;4.02	5.53	5.53	0.82687	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.10637	0.0260	M	0.86573	2.825	0.80722	D	1	P;D;D;D	0.58970	0.815;0.98;0.98;0.984	P;P;P;P	0.54815	0.583;0.649;0.649;0.761	T	0.00942	-1.1506	10	0.87932	D	0	.	15.6579	0.77158	1.0:0.0:0.0:0.0	.	129;129;129;129	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	G	129;129;129;129;129;56	ENSP00000359114:V129G;ENSP00000351163:V129G;ENSP00000302551:V129G;ENSP00000426533:V129G;ENSP00000408640:V129G;ENSP00000410177:V56G	ENSP00000302551:V129G	V	-	2	0	COL11A1	103316904	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	2.107000	0.64212	0.533000	0.62120	GTT	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029997.1		-	ENST00000370096.3	Missense_Mutation	SNP	1 : 103544316 - 103544316 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	273	51
HIVEP3	59269	broad.mit.edu	37	1	41976832	41976832	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41976832G>A	ENST00000372584.1	-	8	7522	c.6508C>T	c.(6508-6510)Cgg>Tgg	p.R2170W	HIVEP3_ENST00000429157.2_Missense_Mutation_p.R2170W|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R2171W|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000372583.1_Missense_Mutation_p.R2171W	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2171					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TCCTCTGTCCGGGCCAGGATG	0.637		NA											G	1	5e-04	NA	NA	2184	0.0017	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9049	LOWCOV,EXOME	NA	NA	0.002	SNP								NA				0								G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	98	94	95		6508,6511	4	1	1		95	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	HIVEP3	NM_001127714.2,NM_024503.4	101,101	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging	2170/2406,2171/2407	41976832	1,13005	2203	4300	6503	SO:0001583	missense			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124	59269	59269		Zinc fingers, C2H2-type	13561	protein-coding gene	gene with protein product	kappabinding protein-1	606649	human immunodeficiency virus type I enhancer-binding protein 3		NA	11161801	Standard	NM_024503	NR_038260	NA	Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372584.1:c.6508C>T	1.37:g.41976832G>A	ENSP00000361665:p.Arg2170Trp	NA	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	37	CCDS44124.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	15.05	2.717244	0.48622	0.0	1.16E-4	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.06768	3.27;3.26;3.26;3.27	4.94	3.99	0.46301	.	0.000000	0.43416	D	0.000575	T	0.12390	0.0301	L	0.29908	0.895	0.31181	N	0.702082	D;D	0.71674	0.998;0.997	P;P	0.56751	0.805;0.644	T	0.02505	-1.1149	10	0.56958	D	0.05	-9.1919	9.1971	0.37235	0.0:0.1599:0.6746:0.1654	.	2170;2171	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	W	2170;2171;2171;2170	ENSP00000361665:R2170W;ENSP00000361664:R2171W;ENSP00000247584:R2171W;ENSP00000410828:R2170W	ENSP00000247584:R2171W	R	-	1	2	HIVEP3	41749419	1.000000	0.71417	0.983000	0.44433	0.342000	0.28953	3.272000	0.51616	1.243000	0.43853	0.561000	0.74099	CGG	HIVEP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000016977.1		-	ENST00000372584.1	Missense_Mutation	SNP	1 : 41976832 - 41976832 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	11
LEPREL1	55214	broad.mit.edu	37	3	189702355	189702355	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:189702355G>A	ENST00000319332.5	-	7	1410	c.1213C>T	c.(1213-1215)Cga>Tga	p.R405*	LEPREL1_ENST00000427335.2_Nonsense_Mutation_p.R224*	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	405					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCATCCTGTCGTCCTCCATAT	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	151	142	145		670,1213	4	1	3		145	0,8600		0,0,4300	no	stop-gained,stop-gained	LEPREL1	NM_001134418.1,NM_018192.3	,	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	,	224/528,405/709	189702355	1,13005	2203	4300	6503	SO:0001587	stop_gained				CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	55214	55214	1.14.11.7		19317	protein-coding gene	gene with protein product	prolyl 3-hydroxylase 2	610341			NA	15063763, 21885030	Standard	NM_018192	NM_018192	NA	Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.1213C>T	3.37:g.189702355G>A	ENSP00000316881:p.Arg405*	NA	B3KWI9|Q9NVI2	37	CCDS3294.1	.	.	.	.	.	.	.	.	.	.	G	40	8.249713	0.98727	2.27E-4	0.0	ENSG00000090530	ENST00000319332;ENST00000427335	.	.	.	5.87	4.0	0.46444	.	0.167866	0.49916	D	0.000128	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.0519	14.1829	0.65586	0.0:0.0:0.7279:0.272	.	.	.	.	X	405;224	.	.	R	-	1	2	LEPREL1	191185049	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	3.045000	0.49838	1.477000	0.48234	0.655000	0.94253	CGA	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343855.1		-	ENST00000319332.5	Nonsense_Mutation	SNP	3 : 189702355 - 189702355 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	281	59
OR13A1	79290	broad.mit.edu	37	10	45799323	45799323	+	Missense_Mutation	SNP	C	C	T	rs116633831	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:45799323C>T	ENST00000553795.1	-	4	856	c.548G>A	c.(547-549)cGc>cAc	p.R183H	OR13A1_ENST00000536058.1_Missense_Mutation_p.R183H|OR13A1_ENST00000374401.2_Missense_Mutation_p.R183H	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						GAAATCCAAGCGCAGCATCAG	0.592		NA											c	5	0.0023	0.01	0.0028	2184	NA	0.9999	,	,	NA	2e-04	NA	NA	NA	0.0023	0.9813	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0								C	HIS/ARG	49,4357	48.9+/-83.8	0,49,2154	48	50	50		548	1.9	0	10	dbSNP_132	50	0,8596		0,0,4298	yes	missense	OR13A1	NM_001004297.2	29	0,49,6452	TT,TC,CC	NA	0.0,1.1121,0.3769	possibly-damaging	183/329	45799323	49,12953	2203	4298	6501	SO:0001583	missense			AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574	79290	79290		GPCR / Class A : Olfactory receptors	14772	protein-coding gene	gene with protein product					NA		Standard	NM_001004297	NM_001004297	NA	Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.548G>A	10.37:g.45799323C>T	ENSP00000451950:p.Arg183His	NA	Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	37	CCDS31188.1	5	0.0022893772893772895	4	0.008130081300813009	1	0.0027624309392265192	0	0.0	0	0.0	c	10.85	1.467132	0.26335	0.011121	0.0	ENSG00000256574	ENST00000553795;ENST00000536058;ENST00000374401	T;T;T	0.00169	8.63;8.63;8.63	5.78	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	0.337003	0.21928	N	0.067072	T	0.00109	0.0003	L	0.45137	1.4	0.09310	N	1	B	0.28820	0.224	B	0.30782	0.12	T	0.36744	-0.9735	10	0.59425	D	0.04	-11.6422	4.3697	0.11242	0.1471:0.5436:0.0:0.3094	.	183	Q8NGR1	O13A1_HUMAN	H	183	ENSP00000451950:R183H;ENSP00000438657:R183H;ENSP00000363522:R183H	ENSP00000311379:R183H	R	-	2	0	OR13A1	45119329	0.000000	0.05858	0.000000	0.03702	0.754000	0.42855	-1.628000	0.02031	0.095000	0.17434	0.650000	0.86243	CGC	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047779.2		-	ENST00000553795.1	Missense_Mutation	SNP	10 : 45799323 - 45799323 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	439	82
KCNH1	3756	broad.mit.edu	37	1	210857251	210857251	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210857251C>T	ENST00000367007.4	-	11	2430	c.2261G>A	c.(2260-2262)aGc>aAc	p.S754N	KCNH1_ENST00000271751.4_Missense_Mutation_p.S781N	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	781	Calmodulin-binding.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CTTCACGAGGCTGTGGTTGGC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	52	54			NA	NA	1		NA											NA				210857251		2203	4300	6503	SO:0001583	missense			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473	3756	3756		Potassium channels, Voltage-gated ion channels / Potassium channels	6250	protein-coding gene	gene with protein product		603305			NA	9738473, 16382104	Standard	NM_002238	NM_172362	NA	Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000367007.4:c.2261G>A	1.37:g.210857251C>T	ENSP00000355974:p.Ser754Asn	NA	B1AQ26|O76035	37	CCDS31015.1	.	.	.	.	.	.	.	.	.	.	C	8.408	0.843422	0.16963	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.98996	-5.28;-5.31	4.64	2.65	0.31530	.	0.968284	0.08580	N	0.924690	D	0.95661	0.8589	N	0.17082	0.46	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	D	0.91852	0.5492	10	0.35671	T	0.21	.	5.6062	0.17381	0.0:0.4757:0.3043:0.2201	.	754;781	Q14CL3;O95259	.;KCNH1_HUMAN	N	781;754	ENSP00000271751:S781N;ENSP00000355974:S754N	ENSP00000271751:S781N	S	-	2	0	KCNH1	208923874	0.000000	0.05858	0.119000	0.21687	0.781000	0.44180	0.876000	0.28092	0.933000	0.37291	0.462000	0.41574	AGC	KCNH1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088568.1		-	ENST00000367007.4	Missense_Mutation	SNP	1 : 210857251 - 210857251 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	417	115
PDGFC	56034	broad.mit.edu	37	4	157891977	157891977	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:157891977T>C	ENST00000502773.1	-	1	569	c.79A>G	c.(79-81)Agt>Ggt	p.S27G	PDGFC_ENST00000422544.2_Missense_Mutation_p.S27G|PDGFC_ENST00000541126.1_5'UTR	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	27					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		AATTTACTACTCAGGTTGGAT	0.542		NA									OREG0016375	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	124	123			NA	NA	4		NA											NA				157891977		2203	4300	6503	SO:0001583	missense			AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431	56034	56034			8801	protein-coding gene	gene with protein product		608452			NA	10858496, 10858548	Standard		NM_016205	NA	Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.79A>G	4.37:g.157891977T>C	ENSP00000422464:p.Ser27Gly	1789	B9EGR8|Q4W5M9|Q9UL22	37	CCDS3795.1	.	.	.	.	.	.	.	.	.	.	T	4.883	0.164081	0.09287	.	.	ENSG00000145431	ENST00000502773;ENST00000422544;ENST00000543489	T;T	0.15952	2.44;2.38	5.12	3.94	0.45596	.	0.000000	0.64402	D	0.000006	T	0.14056	0.0340	L	0.32530	0.975	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.03807	-1.1002	10	0.87932	D	0	-15.015	10.526	0.44950	0.0:0.076:0.0:0.924	.	27	Q9NRA1	PDGFC_HUMAN	G	27	ENSP00000422464:S27G;ENSP00000410048:S27G	ENSP00000274071:S27G	S	-	1	0	PDGFC	158111427	1.000000	0.71417	0.944000	0.38274	0.010000	0.07245	3.812000	0.55628	0.805000	0.34159	0.377000	0.23210	AGT	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366123.1		-	ENST00000502773.1	Missense_Mutation	SNP	4 : 157891977 - 157891977 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	386	72
CCDC112	153733	broad.mit.edu	37	5	114611181	114611181	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114611181C>T	ENST00000506442.1	-	6	799	c.401G>A	c.(400-402)aGc>aAc	p.S134N	CCDC112_ENST00000503027.1_5'UTR|CCDC112_ENST00000379611.5_Missense_Mutation_p.S217N|CCDC112_ENST00000512261.1_Missense_Mutation_p.S134N|CCDC112_ENST00000395557.4_Missense_Mutation_p.S134N			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	134										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		AGGAACTTTGCTTGAGATTGC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	139	139			NA	NA	5		NA											NA				114611181		2202	4300	6502	SO:0001583	missense			BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221	153733	153733			28599	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152549	NM_001040440	NA	Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000506442.1:c.401G>A	5.37:g.114611181C>T	ENSP00000424876:p.Ser134Asn	NA	Q6A334	37		.	.	.	.	.	.	.	.	.	.	C	15.43	2.831347	0.50845	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000506442;ENST00000395557	T;T;T;T	0.24538	1.85;2.19;2.19;2.19	5.95	5.95	0.96441	.	0.516231	0.25114	N	0.033025	T	0.27559	0.0677	L	0.43152	1.355	0.29259	N	0.871457	P;P;P	0.38504	0.634;0.634;0.493	B;B;B	0.41894	0.369;0.369;0.206	T	0.10683	-1.0619	10	0.22109	T	0.4	-3.5344	15.6166	0.76773	0.0:0.8531:0.1469:0.0	.	134;217;134	D6RF76;Q8NEF3-2;Q8NEF3	.;.;CC112_HUMAN	N	217;134;134;134	ENSP00000368931:S217N;ENSP00000423712:S134N;ENSP00000424876:S134N;ENSP00000378925:S134N	ENSP00000368931:S217N	S	-	2	0	CCDC112	114639080	0.664000	0.27457	0.851000	0.33527	0.995000	0.86356	1.112000	0.31172	2.810000	0.96702	0.650000	0.86243	AGC	CCDC112-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000371000.1		-	ENST00000506442.1	Missense_Mutation	SNP	5 : 114611181 - 114611181 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	735	138
NCLN	56926	broad.mit.edu	37	19	3192496	3192496	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3192496G>A	ENST00000246117.4	+	2	644	c.213G>A	c.(211-213)gaG>gaA	p.E71E	NCLN_ENST00000590671.1_5'UTR	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	71					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAACACGGAGGCGCGCACGA	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	15	15			NA	NA	19		NA											NA				3192496		2175	4238	6413	SO:0001819	synonymous_variant			BC025926	CCDS32869.1	19p13.3	2010-08-13	2010-08-13			ENSG00000125912	56926	56926			26923	protein-coding gene	gene with protein product	nicastrin-like protein	609156	nicalin homolog (zebrafish)		NA	11230166	Standard	NM_020170	NM_020170	NA	Approved	NICALIN, NET59	uc002lxi.3	Q969V3		ENST00000246117.4:c.213G>A	19.37:g.3192496G>A		NA	D6W613|O75252|Q6FI60|Q6ZMB7|Q8TAT7|Q96H48|Q96IS7|Q9BQH9|Q9BTX4|Q9NPP2	37	CCDS32869.1																																																																																			NCLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452545.1		+	ENST00000246117.4	Silent	SNP	19 : 3192496 - 3192496 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	195	40
PLEKHG1	57480	broad.mit.edu	37	6	151161984	151161984	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151161984G>T	ENST00000358517.2	+	16	4321	c.4110G>T	c.(4108-4110)caG>caT	p.Q1370H	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.Q1370H			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1370					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ATATTGTCCAGTCTCTAAGGG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	78	77			NA	NA	6		NA											NA				151161984		2203	4300	6503	SO:0001583	missense			AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278	57480	57480		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	20884	protein-coding gene	gene with protein product					NA	10574462	Standard		XM_005267064	NA	Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.4110G>T	6.37:g.151161984G>T	ENSP00000351318:p.Gln1370His	NA	Q5T1F2	37	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135406	0.77662	.	.	ENSG00000120278	ENST00000367328;ENST00000358517	T;T	0.71461	-0.57;-0.57	5.7	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.77751	0.4177	M	0.68952	2.095	0.53005	D	0.999962	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.81629	-0.0846	10	0.87932	D	0	.	13.7983	0.63184	0.0749:0.0:0.9251:0.0	.	1177;1370	Q5EBL9;Q9ULL1	.;PKHG1_HUMAN	H	1370	ENSP00000356297:Q1370H;ENSP00000351318:Q1370H	ENSP00000351318:Q1370H	Q	+	3	2	PLEKHG1	151203677	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.333000	0.72939	1.369000	0.46134	0.655000	0.94253	CAG	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042691.1		+	ENST00000358517.2	Missense_Mutation	SNP	6 : 151161984 - 151161984 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	566	91
DNAJC5	80331	broad.mit.edu	37	20	62560750	62560750	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62560750G>A	ENST00000360864.4	+	3	346	c.193G>A	c.(193-195)Gcc>Acc	p.A65T	DNAJC5_ENST00000369911.2_Missense_Mutation_p.A65T	NM_025219.2	NP_079495.1	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	65	J.				neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CAACGCGCACGCCATCCTCAC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	120	133			NA	NA	20		NA											NA				62560750		2203	4300	6503	SO:0001583	missense				CCDS13546.1	20q13.33	2014-09-17			ENSG00000101152	ENSG00000101152	80331	80331		Heat shock proteins / DNAJ (HSP40)	16235	protein-coding gene	gene with protein product		611203	ceroid-lipofuscinosis, neuronal 4 (Kufs disease)	CLN4	NA		Standard	NM_025219	NM_025219	NA	Approved	FLJ00118, FLJ13070, DNAJC5A	uc002yhf.3	Q9H3Z4	OTTHUMG00000033007	ENST00000360864.4:c.193G>A	20.37:g.62560750G>A	ENSP00000354111:p.Ala65Thr	NA	A8K0M0|B3KY68|E1P5G8|Q9H3Z5|Q9H7H2	37	CCDS13546.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196237	0.58126	.	.	ENSG00000101152	ENST00000369911;ENST00000360864	T;T	0.30182	1.54;1.54	5.4	4.45	0.53987	Heat shock protein DnaJ, N-terminal (5);Heat shock protein DnaJ, conserved site (1);	0.102238	0.64402	N	0.000002	T	0.19087	0.0458	N	0.16016	0.355	0.53688	D	0.999977	B;B	0.18310	0.024;0.027	B;B	0.16289	0.013;0.015	T	0.03910	-1.0993	10	0.23891	T	0.37	.	14.429	0.67236	0.0717:0.0:0.9283:0.0	.	65;65	Q9H3Z4-2;Q9H3Z4	.;DNJC5_HUMAN	T	65	ENSP00000358927:A65T;ENSP00000354111:A65T	ENSP00000354111:A65T	A	+	1	0	DNAJC5	62031194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.517000	0.53443	1.419000	0.47118	0.650000	0.86243	GCC	DNAJC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080244.1		+	ENST00000360864.4	Missense_Mutation	SNP	20 : 62560750 - 62560750 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	426	92
TCHH	7062	broad.mit.edu	37	1	152084576	152084576	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152084576G>A	ENST00000368804.1	-	2	1116	c.1117C>T	c.(1117-1119)Cgc>Tgc	p.R373C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	373	5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tgctgctcgcgcctctcctcc	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													6	9	8			NA	NA	1		NA											NA				152084576		1424	3236	4660	SO:0001583	missense			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450	7062	7062		EF-hand domain containing	11791	protein-coding gene	gene with protein product		190370		THH	NA	1431214	Standard	NM_007113	NM_007113	NA	Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1117C>T	1.37:g.152084576G>A	ENSP00000357794:p.Arg373Cys	NA	Q5VUI3	37	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	N	8.557	0.876854	0.17395	.	.	ENSG00000159450	ENST00000368804	T	0.06371	3.31	3.47	1.51	0.23008	.	.	.	.	.	T	0.00815	0.0027	N	0.08118	0	0.09310	N	1	P	0.35155	0.487	B	0.18561	0.022	T	0.47971	-0.9075	9	0.44086	T	0.13	.	6.206	0.20604	0.114:0.1904:0.6956:0.0	.	373	Q07283	TRHY_HUMAN	C	373	ENSP00000357794:R373C	ENSP00000357794:R373C	R	-	1	0	TCHH	150351200	0.000000	0.05858	0.000000	0.03702	0.136000	0.21042	0.132000	0.15891	0.193000	0.20303	-0.285000	0.09966	CGC	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000036671.2		-	ENST00000368804.1	Missense_Mutation	SNP	1 : 152084576 - 152084576 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	388	50
DVL2	1856	broad.mit.edu	37	17	7130980	7130980	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7130980G>A	ENST00000005340.5	-	11	1507	c.1225C>T	c.(1225-1227)Cct>Tct	p.P409S	DVL2_ENST00000575458.1_Missense_Mutation_p.P403S	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	409					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TCACCATCAGGCAAAGACGAT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	62	62			NA	NA	17		NA											NA				7130980		2203	4300	6503	SO:0001583	missense			BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975	1856	1856		Dishevelled homologs	3086	protein-coding gene	gene with protein product		602151	dishevelled 2 (homologous to Drosophila dsh), dishevelled, dsh homolog 2 (Drosophila)		NA	8662242	Standard	NM_004422	NM_004422	NA	Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.1225C>T	17.37:g.7130980G>A	ENSP00000005340:p.Pro409Ser	NA	D3DTN3|Q53XM0	37	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.555622	0.45487	.	.	ENSG00000004975	ENST00000005340	T	0.05855	3.38	4.69	4.69	0.59074	.	0.121077	0.56097	D	0.000032	T	0.09291	0.0229	L	0.55213	1.73	0.42008	D	0.990925	P;B	0.38711	0.643;0.435	B;B	0.42422	0.387;0.157	T	0.13656	-1.0501	10	0.30078	T	0.28	-11.0428	10.2236	0.43212	0.0:0.0:0.802:0.198	.	403;409	B4DLQ0;O14641	.;DVL2_HUMAN	S	409	ENSP00000005340:P409S	ENSP00000005340:P409S	P	-	1	0	DVL2	7071704	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.964000	0.63701	2.446000	0.82766	0.655000	0.94253	CCT	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219999.2		-	ENST00000005340.5	Missense_Mutation	SNP	17 : 7130980 - 7130980 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	213	44
RANBP17	64901	broad.mit.edu	37	5	170338133	170338133	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:170338133G>T	ENST00000523189.1	+	7	919	c.755G>T	c.(754-756)aGa>aTa	p.R252I		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	252					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ACAACTTGGAGAACAAGTAAG	0.373		NA	T	TRD@	ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		5	5q34	64901	RAN binding protein 17		L	0													47	44	45			NA	NA	5		NA											NA				170338133		2203	4299	6502	SO:0001583	missense			AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764	64901	64901			14428	protein-coding gene	gene with protein product		606141			NA	11024021	Standard	NM_022897	NM_022897	NA	Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.755G>T	5.37:g.170338133G>T	ENSP00000427975:p.Arg252Ile	NA		37	CCDS34287.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	25.7|25.7	4.661002|4.661002	0.88154|0.88154	.|.	.|.	ENSG00000204764|ENSG00000204764	ENST00000522734|ENST00000523189;ENST00000545246	.|T	.|0.29397	.|1.57	5.43|5.43	4.56|4.56	0.56223|0.56223	.|Armadillo-type fold (1);	.|0.089808	.|0.49305	.|D	.|0.000156	T|T	0.62962|0.62962	0.2471|0.2471	M|M	0.92026|0.92026	3.265|3.265	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	T|T	0.71803|0.71803	-0.4482|-0.4482	5|10	.|0.59425	.|D	.|0.04	-10.4345|-10.4345	13.8894|13.8894	0.63729|0.63729	0.0744:0.0:0.9256:0.0|0.0744:0.0:0.9256:0.0	.|.	.|252	.|Q9H2T7	.|RBP17_HUMAN	D|I	34|252;148	.|ENSP00000427975:R252I	.|ENSP00000373770:R252I	E|R	+|+	3|2	2|0	RANBP17|RANBP17	170270711|170270711	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.927000|0.927000	0.56198|0.56198	6.608000|6.608000	0.74168|0.74168	1.407000|1.407000	0.46875|0.46875	0.655000|0.655000	0.94253|0.94253	GAG|AGA	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372036.1		+	ENST00000523189.1	Missense_Mutation	SNP	5 : 170338133 - 170338133 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	219	31
FOXA3	3171	broad.mit.edu	37	19	46376245	46376245	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46376245G>A	ENST00000302177.2	+	2	1179	c.982G>A	c.(982-984)Ggg>Agg	p.G328R		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	328					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific 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|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		TGGGGGCTACGGGGCTGAAGG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ARG/GLY	0,4404		0,0,2202	36	32	34		982	4.5	0.7	19		34	1,8599	1.2+/-3.3	0,1,4299	no	missense	FOXA3	NM_004497.2	125	0,1,6501	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	328/351	46376245	1,13003	2202	4300	6502	SO:0001583	missense			L12141	CCDS12677.1	19q13.32	2014-09-11		2002-09-20	ENSG00000170608	ENSG00000170608	3171	3171		Forkhead boxes	5023	protein-coding gene	gene with protein product		602295	hepatocyte nuclear factor 3, gamma	HNF3G	NA	9119385	Standard		NM_004497	NA	Approved		uc002pdr.3	P55318	OTTHUMG00000182484	ENST00000302177.2:c.982G>A	19.37:g.46376245G>A	ENSP00000304004:p.Gly328Arg	NA	A9LYI5|Q53F16|Q9UMW9	37	CCDS12677.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922531	0.52653	0.0	1.16E-4	ENSG00000170608	ENST00000302177	D	0.91894	-2.93	4.53	4.53	0.55603	.	0.524241	0.19272	N	0.118370	D	0.94450	0.8214	L	0.52573	1.65	0.44462	D	0.99739	D	0.89917	1.0	D	0.80764	0.994	D	0.94693	0.7876	10	0.87932	D	0	.	15.1292	0.72507	0.0:0.0:1.0:0.0	.	328	P55318	FOXA3_HUMAN	R	328	ENSP00000304004:G328R	ENSP00000304004:G328R	G	+	1	0	FOXA3	51068085	1.000000	0.71417	0.672000	0.29872	0.456000	0.32438	3.948000	0.56660	2.502000	0.84385	0.579000	0.79373	GGG	FOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461682.1		+	ENST00000302177.2	Missense_Mutation	SNP	19 : 46376245 - 46376245 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	137	24
WDR26	80232	broad.mit.edu	37	1	224599257	224599257	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:224599257G>A	ENST00000414423.2	-	7	1223	c.1030C>T	c.(1030-1032)Cca>Tca	p.P344S	WDR26_ENST00000295024.6_Missense_Mutation_p.P197S|WDR26_ENST00000366852.2_3'UTR	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	344						cytoplasm|nucleus				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		GTATAACATGGGAACTGCCTC	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	106	108			NA	NA	1		NA											NA				224599257		2203	4300	6503	SO:0001583	missense			AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923	80232	80232		WD repeat domain containing	21208	protein-coding gene	gene with protein product	GID complex subunit 7 homolog (S. cerevisiae)				NA		Standard	NM_025160	NM_001115113	NA	Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.1030C>T	1.37:g.224599257G>A	ENSP00000408108:p.Pro344Ser	NA	A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	37	CCDS31037.2	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012648	0.93346	.	.	ENSG00000162923	ENST00000414423;ENST00000295024	D;D	0.81499	-1.5;-1.5	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.88518	0.6458	L	0.58925	1.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88197	0.2881	10	0.54805	T	0.06	.	19.5578	0.95358	0.0:0.0:1.0:0.0	.	328	Q9H7D7-2	.	S	344;197	ENSP00000408108:P344S;ENSP00000295024:P197S	ENSP00000295024:P197S	P	-	1	0	WDR26	222665880	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.813000	0.99286	2.695000	0.91970	0.563000	0.77884	CCA	WDR26-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091760.2		-	ENST00000414423.2	Missense_Mutation	SNP	1 : 224599257 - 224599257 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	37
RBM45	129831	broad.mit.edu	37	2	178977542	178977542	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178977542G>A	ENST00000286070.5	+	1	361	c.269G>A	c.(268-270)tGc>tAc	p.C90Y		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	90	RRM 1.				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			CATGGCCAGTGCCTCGGCCCC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	45	45			NA	NA	2		NA											NA				178977542		2203	4300	6503	SO:0001583	missense			AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636	129831	129831		RNA binding motif (RRM) containing	24468	protein-coding gene	gene with protein product	developmentally regulated RNA binding protein 1	608888			NA	12220514	Standard	NM_152945	XM_005246287	NA	Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.269G>A	2.37:g.178977542G>A	ENSP00000286070:p.Cys90Tyr	NA	Q6NYL0|Q8NFC9	37	CCDS33335.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187412	0.57909	.	.	ENSG00000155636	ENST00000286070	D	0.85556	-2.0	4.73	2.9	0.33743	.	0.230414	0.43919	N	0.000503	T	0.74122	0.3675	N	0.03983	-0.305	0.44595	D	0.997569	D	0.54207	0.965	P	0.51135	0.66	T	0.77517	-0.2558	10	0.66056	D	0.02	-5.4128	9.7539	0.40492	0.169:0.0:0.831:0.0	.	90	Q8IUH3-3	.	Y	90	ENSP00000286070:C90Y	ENSP00000286070:C90Y	C	+	2	0	RBM45	178685788	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.216000	0.58540	1.122000	0.41944	0.563000	0.77884	TGC	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334375.2		+	ENST00000286070.5	Missense_Mutation	SNP	2 : 178977542 - 178977542 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	405	27
UNC50	25972	broad.mit.edu	37	2	99226447	99226447	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99226447C>T	ENST00000409975.1	+	1	1406	c.276C>T	c.(274-276)gaC>gaT	p.D92D	UNC50_ENST00000409347.1_Silent_p.D92D|UNC50_ENST00000357765.2_Silent_p.D75D			Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	75					protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						AGACGAAGGACCAGTGGGCCA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	58	57			NA	NA	2		NA											NA				99226447		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446	25972	25972			16046	protein-coding gene	gene with protein product					NA	10980252	Standard	NM_014044	NM_014044	NA	Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000409975.1:c.276C>T	2.37:g.99226447C>T		NA	D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	37																																																																																				UNC50-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000329560.1		+	ENST00000409975.1	Silent	SNP	2 : 99226447 - 99226447 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	100
SEMA6D	80031	broad.mit.edu	37	15	48055280	48055280	+	Silent	SNP	C	C	T	rs141276774		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48055280C>T	ENST00000316364.5	+	9	1165	c.726C>T	c.(724-726)gtC>gtT	p.V242V	SEMA6D_ENST00000389425.3_Silent_p.V242V|SEMA6D_ENST00000536845.2_Silent_p.V242V|SEMA6D_ENST00000355997.3_Silent_p.V242V|SEMA6D_ENST00000558014.1_Silent_p.V242V|SEMA6D_ENST00000558816.1_Silent_p.V242V|SEMA6D_ENST00000389432.2_Silent_p.V242V|SEMA6D_ENST00000537942.1_Silent_p.V242V|SEMA6D_ENST00000358066.4_Silent_p.V242V|SEMA6D_ENST00000354744.4_Silent_p.V242V|SEMA6D_ENST00000389428.3_Silent_p.V242V|SEMA6D_ENST00000389433.2_Silent_p.V242V	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	242	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.V242V(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AAATCGCTGTCGAACATAATA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	skin(1)											83	79	80			NA	NA	15		NA											NA				48055280		2197	4295	6492	SO:0001819	synonymous_variant			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872	80031	80031		Semaphorins	16770	protein-coding gene	gene with protein product		609295			NA	12110693, 14977921	Standard	NM_024966	NM_020858	NA	Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.726C>T	15.37:g.48055280C>T		NA	A6NF10|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	37	CCDS32225.1																																																																																			SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416868.1		+	ENST00000316364.5	Silent	SNP	15 : 48055280 - 48055280 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	205	31
PCDHB3	56132	broad.mit.edu	37	5	140480291	140480291	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140480291T>G	ENST00000231130.2	+	1	58	c.58T>G	c.(58-60)Ttt>Gtt	p.F20V	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	20					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTCTTTGTTTTTCTGGGAGG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	95	91			NA	NA	5		NA											NA				140480291		2203	4300	6503	SO:0001583	missense			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205	56132	56132		Cadherins / Protocadherins : Clustered	8688	other	protocadherin		606329			NA	10380929	Standard	NM_018937	NM_018937	NA	Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.58T>G	5.37:g.140480291T>G	ENSP00000231130:p.Phe20Val	NA	B2R8P2	37	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	T	12.58	1.979876	0.34942	.	.	ENSG00000113205	ENST00000231130	T	0.47869	0.83	4.77	0.509	0.16977	.	.	.	.	.	T	0.32496	0.0831	L	0.37630	1.12	0.19300	N	0.999973	B	0.18461	0.028	B	0.12156	0.007	T	0.28299	-1.0048	9	0.56958	D	0.05	.	3.4948	0.07650	0.2739:0.2045:0.0:0.5217	.	20	Q9Y5E6	PCDB3_HUMAN	V	20	ENSP00000231130:F20V	ENSP00000231130:F20V	F	+	1	0	PCDHB3	140460475	0.000000	0.05858	0.897000	0.35233	0.981000	0.71138	0.186000	0.16978	0.243000	0.21327	-0.274000	0.10170	TTT	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251817.2		+	ENST00000231130.2	Missense_Mutation	SNP	5 : 140480291 - 140480291 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	83
PSG5	5673	broad.mit.edu	37	19	43689108	43689108	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43689108C>T	ENST00000404580.1	-	2	344	c.256G>A	c.(256-258)Ggt>Agt	p.G86S	PSG5_ENST00000366175.3_Missense_Mutation_p.G86S|PSG5_ENST00000342951.6_Missense_Mutation_p.G86S|PSG5_ENST00000407568.1_Missense_Mutation_p.G86S|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000407356.1_Missense_Mutation_p.G86S|PSG5_ENST00000599812.1_Missense_Mutation_p.G86S			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	86	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TTTATTTGACCGTCTACTACA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													264	253	257			NA	NA	19		NA											NA				43689108		2203	4295	6498	SO:0001583	missense				CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941	5673	5673		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	9522	protein-coding gene	gene with protein product	pregnancy-specific beta-1 glycoprotein, pregnancy-specific beta 1 glycoprotein	176394			NA	2735907	Standard	NM_002781	NM_002781	NA	Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000404580.1:c.256G>A	19.37:g.43689108C>T	ENSP00000385250:p.Gly86Ser	NA	Q15239|Q96QJ1|Q9UQ75	37		.	.	.	.	.	.	.	.	.	.	N	0.169	-1.073275	0.01918	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000407568;ENST00000342951;ENST00000404580;ENST00000401992	T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07	1.56	-3.12	0.05282	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.33294	0.0858	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.12013	0.005;0.005;0.001;0.003	B;B;B;B	0.12156	0.007;0.007;0.002;0.004	T	0.20273	-1.0280	9	0.10377	T	0.69	.	4.6263	0.12479	0.0:0.511:0.218:0.2709	.	86;86;86;86	E7EWL9;E9PC55;Q15228;Q15238	.;.;.;PSG5_HUMAN	S	86	ENSP00000382334:G86S;ENSP00000386008:G86S;ENSP00000386053:G86S;ENSP00000344413:G86S;ENSP00000385250:G86S	ENSP00000344413:G86S	G	-	1	0	PSG5	48380948	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.628000	0.02031	-1.539000	0.01732	-0.771000	0.03389	GGT	PSG5-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000323058.1		-	ENST00000404580.1	Missense_Mutation	SNP	19 : 43689108 - 43689108 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1449	335
RYR2	6262	broad.mit.edu	37	1	237993907	237993907	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237993907G>T	ENST00000366574.2	+	103	15050	c.14733G>T	c.(14731-14733)caG>caT	p.Q4911H	RYR2_ENST00000542537.1_Missense_Mutation_p.Q4895H|RYR2_ENST00000360064.6_Missense_Mutation_p.Q4917H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4911					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACACTTTACAGGAGCACAACT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	170	173			NA	NA	1		NA											NA				237993907		1967	4164	6131	SO:0001583	missense			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626	6262	6262		Ion channels / Ryanodine receptors, EF-hand domain containing	10484	protein-coding gene	gene with protein product		180902	arrhythmogenic right ventricular dysplasia 2	ARVD2	NA	2380170, 8406504, 11159936	Standard	NM_001035	NM_001035	NA	Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14733G>T	1.37:g.237993907G>T	ENSP00000355533:p.Gln4911His	NA	Q15411|Q546N8|Q5T3P2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870785	0.72065	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96802	-4.13;-4.09;-4.12	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000011	D	0.93598	0.7956	L	0.29908	0.895	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	D	0.89771	0.3954	10	0.87932	D	0	-13.8307	19.143	0.93452	0.0:0.0:1.0:0.0	.	4911	Q92736	RYR2_HUMAN	H	4911;4917;4895	ENSP00000355533:Q4911H;ENSP00000353174:Q4917H;ENSP00000443798:Q4895H	ENSP00000353174:Q4917H	Q	+	3	2	RYR2	236060530	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.770000	0.47662	2.509000	0.84616	0.561000	0.74099	CAG	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095402.2		+	ENST00000366574.2	Missense_Mutation	SNP	1 : 237993907 - 237993907 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	695	161
TRIM2	23321	broad.mit.edu	37	4	154217082	154217082	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154217082G>A	ENST00000338700.5	+	6	1469	c.1404G>A	c.(1402-1404)ccG>ccA	p.P468P	TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000437508.2_Silent_p.P441P	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	441						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		TTAAGTCCCCGGGGAGCGGCC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	56	56			NA	NA	4		NA											NA				154217082		2203	4300	6503	SO:0001819	synonymous_variant			AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654	23321	23321		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	15974	protein-coding gene	gene with protein product		614141	tripartite motif-containing 2		NA	9628581, 11331580	Standard		NM_015271	NA	Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000338700.5:c.1404G>A	4.37:g.154217082G>A		NA	O60272|Q9BSI9|Q9UFZ1	37	CCDS3781.2																																																																																			TRIM2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342649.3		+	ENST00000338700.5	Silent	SNP	4 : 154217082 - 154217082 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	311	46
SWI5	375757	broad.mit.edu	37	9	131038624	131038624	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131038624A>C	ENST00000419867.2	+	1	104	c.5A>C	c.(4-6)gAc>gCc	p.D2A	SWI5_ENST00000495313.1_Intron|SWI5_ENST00000320188.5_Missense_Mutation_p.D67A|SWI5_ENST00000418976.1_Missense_Mutation_p.D2A|SWI5_ENST00000608796.1_Missense_Mutation_p.D2A			Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	NA					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding				NA						CCCGCGCTGGACCCTCTTGCG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	16	15			NA	NA	9		NA											NA				131038624		1896	4109	6005	SO:0001583	missense			BC029911	CCDS43883.1	9q34.13	2011-07-29	2011-07-29	2011-07-29	ENSG00000175854	ENSG00000175854	375757	375757			31412	protein-coding gene	gene with protein product			chromosome 9 open reading frame 119	C9orf119	NA	21252223, 20976249	Standard	NM_001040011	NM_001040011	NA	Approved	bA395P17.9	uc004bup.3	Q1ZZU3	OTTHUMG00000020729	ENST00000419867.2:c.5A>C	9.37:g.131038624A>C	ENSP00000477295:p.Asp2Ala	NA	Q5SYX7|Q5SYX8|Q8N2W6	37		.	.	.	.	.	.	.	.	.	.	A	14.95	2.687257	0.48097	.	.	ENSG00000175854	ENST00000320188	.	.	.	4.89	3.76	0.43208	.	0.360146	0.22153	N	0.063882	T	0.39036	0.1063	L	0.29908	0.895	0.30954	N	0.724454	D	0.64830	0.994	P	0.54312	0.748	T	0.36311	-0.9753	9	0.36615	T	0.2	.	6.9791	0.24694	0.8979:0.0:0.1021:0.0	.	67	Q1ZZU3	SWI5_HUMAN	A	67	.	ENSP00000316609:D67A	D	+	2	0	SWI5	130078445	0.930000	0.31532	0.963000	0.40424	0.022000	0.10575	1.885000	0.39678	0.906000	0.36621	0.491000	0.48974	GAC	SWI5-005	PUTATIVE	non_ATG_start|basic	protein_coding	NA	protein_coding	OTTHUMT00000355720.2		+	ENST00000419867.2	Missense_Mutation	SNP	9 : 131038624 - 131038624 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	109	24
TMEM180	79847	broad.mit.edu	37	10	104230514	104230514	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104230514C>T	ENST00000238936.4	+	5	581	c.344C>T	c.(343-345)gCg>gTg	p.A115V	TMEM180_ENST00000369931.3_Intron|TMEM180_ENST00000366277.2_Intron	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	115						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCGTTCCTGGCGTTCTGGGTG	0.692		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	10		NA											NA				104230514		2203	4300	6503	SO:0001583	missense			AK026182	CCDS7535.1	10q24.32	2011-02-09	2006-10-12	2006-10-12	ENSG00000138111	ENSG00000138111	79847	79847			26196	protein-coding gene	gene with protein product				C10orf77	NA	12477932	Standard	NM_024789	XM_006717971	NA	Approved	FLJ22529, bA18I14.8	uc001kvt.3	Q14CX5	OTTHUMG00000018961	ENST00000238936.4:c.344C>T	10.37:g.104230514C>T	ENSP00000238936:p.Ala115Val	NA	Q6NWM8|Q6NWM9|Q6PEZ7|Q9H679	37	CCDS7535.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.537501	0.45176	.	.	ENSG00000138111	ENST00000238936	D	0.83163	-1.69	5.29	4.39	0.52855	Major facilitator superfamily domain, general substrate transporter (1);	0.048256	0.85682	N	0.000000	T	0.78368	0.4272	L	0.55481	1.735	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	T	0.71876	-0.4460	10	0.19590	T	0.45	.	13.7692	0.63015	0.0:0.9256:0.0:0.0744	.	115	Q14CX5	TM180_HUMAN	V	115	ENSP00000238936:A115V	ENSP00000238936:A115V	A	+	2	0	TMEM180	104220504	1.000000	0.71417	0.991000	0.47740	0.940000	0.58332	4.901000	0.63259	1.220000	0.43490	0.511000	0.50034	GCG	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050075.2		+	ENST00000238936.4	Missense_Mutation	SNP	10 : 104230514 - 104230514 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	940	199
PLD2	5338	broad.mit.edu	37	17	4720350	4720350	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4720350G>A	ENST00000263088.6	+	16	1832	c.1701G>A	c.(1699-1701)aaG>aaA	p.K567K	PLD2_ENST00000572940.1_Splice_Site_p.K567K	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	567	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	ACTTCACCAAGGTGTTCATTC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	84	87			NA	NA	17		NA											NA				4720350		2203	4300	6503	SO:0001630	splice_region_variant			AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	5338	5338	3.1.4.4		9068	protein-coding gene	gene with protein product	choline phosphatase 2	602384			NA	9858823, 9582313	Standard	NM_002663	NM_002663	NA	Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.1701+1G>A	17.37:g.4720350G>A		NA	O43540|O43579|O43580|Q6PGR0|Q96BY3	37	CCDS11057.1																																																																																			PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207561.3	Silent	+	ENST00000263088.6	Splice_Site	SNP	17 : 4720350 - 4720350 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	680	136
SCRIB	23513	broad.mit.edu	37	8	144890804	144890804	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144890804G>A	ENST00000356994.2	-	15	2096	c.2090C>T	c.(2089-2091)gCc>gTc	p.A697V	SCRIB_ENST00000377533.3_Missense_Mutation_p.A616V|SCRIB_ENST00000320476.3_Missense_Mutation_p.A697V	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	697	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGAAACCACGGCCCCCTCCTT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(51;966 1133 10533 14576 29674)							NA				0													153	131	139			NA	NA	8		NA											NA				144890804		2203	4300	6503	SO:0001583	missense			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900	23513	23513			30377	protein-coding gene	gene with protein product		607733	scribbled homolog (Drosophila)		NA	11027293, 14681682	Standard	NM_015356	NM_182706	NA	Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000356994.2:c.2090C>T	8.37:g.144890804G>A	ENSP00000349486:p.Ala697Val	NA	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	37	CCDS6412.1	.	.	.	.	.	.	.	.	.	.	g	13.66	2.303627	0.40795	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539;ENST00000531942	T;T;T;T	0.37058	1.45;1.42;1.22;1.91	4.2	2.34	0.29019	.	.	.	.	.	T	0.19127	0.0459	N	0.14661	0.345	0.09310	N	0.999991	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.23691	-1.0181	9	0.26408	T	0.33	.	6.0112	0.19578	0.1011:0.0:0.7118:0.1871	.	697;697	Q14160;Q14160-3	SCRIB_HUMAN;.	V	697;697;616;66;15	ENSP00000349486:A697V;ENSP00000322938:A697V;ENSP00000366756:A616V;ENSP00000433546:A15V	ENSP00000322938:A697V	A	-	2	0	SCRIB	144962792	0.139000	0.22563	0.001000	0.08648	0.412000	0.31113	2.734000	0.47368	0.342000	0.23796	0.401000	0.26515	GCC	SCRIB-002	NOVEL	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382214.2		-	ENST00000356994.2	Missense_Mutation	SNP	8 : 144890804 - 144890804 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	286	49
HSD3B1	3283	broad.mit.edu	37	1	120057147	120057147	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120057147C>T	ENST00000369413.3	+	4	1146	c.1001C>T	c.(1000-1002)gCt>gTt	p.A334V	HSD3B1_ENST00000528909.1_Missense_Mutation_p.A334V|HSD3B1_ENST00000235547.6_Missense_Mutation_p.A336V			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	334					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	TATAAGAAGGCTCAGCGAGAT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	91	95			NA	NA	1		NA											NA				120057147		2203	4300	6503	SO:0001583	missense			S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	3283	3283	1.1.1.145, 5.3.3.1	Short chain dehydrogenase/reductase superfamily / Extended SDR fold	5217	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 11E, member 1	109715		HSDB3, HSD3B	NA	2779585, 19027726	Standard	NM_000862	NM_000862	NA	Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.1001C>T	1.37:g.120057147C>T	ENSP00000358421:p.Ala334Val	NA	A8K691|Q14545|Q8IV65	37	CCDS903.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277993	0.59758	.	.	ENSG00000203857	ENST00000369413;ENST00000235547;ENST00000528909	D;D;D	0.90955	-2.76;-2.76;-2.76	3.26	3.26	0.37387	.	0.000000	0.85682	D	0.000000	D	0.95896	0.8664	H	0.95645	3.7	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.978;0.999	D	0.96505	0.9374	10	0.87932	D	0	-7.6718	12.346	0.55122	0.0:1.0:0.0:0.0	.	336;334	Q5TDG2;P14060	.;3BHS1_HUMAN	V	334;336;334	ENSP00000358421:A334V;ENSP00000235547:A336V;ENSP00000432268:A334V	ENSP00000235547:A336V	A	+	2	0	HSD3B1	119858670	1.000000	0.71417	0.994000	0.49952	0.327000	0.28475	7.157000	0.77461	1.799000	0.52666	0.313000	0.20887	GCT	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034993.3		+	ENST00000369413.3	Missense_Mutation	SNP	1 : 120057147 - 120057147 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	53
EEPD1	80820	broad.mit.edu	37	7	36336643	36336643	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36336643C>T	ENST00000242108.4	+	7	2075	c.1357C>T	c.(1357-1359)Cca>Tca	p.P453S	EEPD1_ENST00000534978.1_Missense_Mutation_p.P453S	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	453					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						TGGCCAAGGGCCAGACAGCAA	0.468		NA											C	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	EXOME	NA	NA	4e-04	SNP								NA				0													106	102	103			NA	NA	7		NA											NA				36336643		2203	4300	6503	SO:0001583	missense			AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547	80820	80820			22223	protein-coding gene	gene with protein product					NA		Standard	NM_030636	NM_030636	NA	Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.1357C>T	7.37:g.36336643C>T	ENSP00000242108:p.Pro453Ser	NA	Q96K64|Q9C0F7	37	CCDS34619.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.54	3.646501	0.67358	.	.	ENSG00000122547	ENST00000242108;ENST00000534978	D;D	0.95788	-3.81;-3.81	5.09	5.09	0.68999	Endonuclease/exonuclease/phosphatase (2);	0.107611	0.64402	D	0.000004	D	0.95934	0.8676	L	0.59436	1.845	0.58432	D	0.999998	P	0.52692	0.955	P	0.54889	0.763	D	0.95557	0.8626	10	0.54805	T	0.06	-11.2339	14.9567	0.71120	0.0:0.8572:0.1428:0.0	.	453	Q7L9B9	EEPD1_HUMAN	S	453	ENSP00000242108:P453S;ENSP00000442692:P453S	ENSP00000242108:P453S	P	+	1	0	EEPD1	36303168	1.000000	0.71417	0.999000	0.59377	0.620000	0.37586	4.650000	0.61440	2.759000	0.94783	0.555000	0.69702	CCA	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337602.1		+	ENST00000242108.4	Missense_Mutation	SNP	7 : 36336643 - 36336643 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	287	58
PKDREJ	10343	broad.mit.edu	37	22	46655993	46655993	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46655993G>A	ENST00000253255.5	-	1	3226	c.3227C>T	c.(3226-3228)aCt>aTt	p.T1076I		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1076					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TATGGATACAGTACAGTGGGG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	42	44			NA	NA	22		NA											NA				46655993		2203	4300	6503	SO:0001583	missense			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943	10343	10343			9015	protein-coding gene	gene with protein product		604670	polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like, polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like, polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)		NA	9949214, 10591208	Standard	NM_006071	NM_006071	NA	Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.3227C>T	22.37:g.46655993G>A	ENSP00000253255:p.Thr1076Ile	NA	B1AJY3|O95850	37	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.718557	0.30503	.	.	ENSG00000130943	ENST00000253255	T	0.36878	1.23	4.93	-4.29	0.03721	.	2.079570	0.01985	N	0.045099	T	0.27419	0.0673	L	0.40543	1.245	0.09310	N	1	B	0.26002	0.139	B	0.21546	0.035	T	0.33317	-0.9873	10	0.54805	T	0.06	-0.9435	5.2917	0.15731	0.2422:0.0:0.3316:0.4262	.	1076	Q9NTG1	PKDRE_HUMAN	I	1076	ENSP00000253255:T1076I	ENSP00000253255:T1076I	T	-	2	0	PKDREJ	45034657	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.064000	0.11636	-0.302000	0.08869	0.455000	0.32223	ACT	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318466.1		-	ENST00000253255.5	Missense_Mutation	SNP	22 : 46655993 - 46655993 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	178	30
GP9	2815	broad.mit.edu	37	3	128780912	128780912	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128780912G>T	ENST00000307395.4	+	3	552	c.330G>T	c.(328-330)caG>caT	p.Q110H		NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN	glycoprotein IX (platelet)	110	LRRCT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding			NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	CCCTGCTGCAGGTCCGCTGTG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	15	15			NA	NA	3		NA											NA				128780912		2196	4285	6481	SO:0001583	missense				CCDS3055.1	3q21.3	2014-09-17				ENSG00000169704	2815	2815		CD molecules	4444	protein-coding gene	gene with protein product		173515			NA	2253772	Standard		XM_005247374	NA	Approved	CD42a, GPIX	uc003elm.2	P14770		ENST00000307395.4:c.330G>T	3.37:g.128780912G>T	ENSP00000303942:p.Gln110His	NA	Q14445|Q8N1D1|Q92525	37	CCDS3055.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.233487	0.22626	.	.	ENSG00000169704	ENST00000307395	D	0.90133	-2.62	4.17	-7.05	0.01573	Cysteine-rich flanking region, C-terminal (1);	2.023410	0.02760	N	0.118489	T	0.82116	0.4967	N	0.25890	0.77	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.68557	-0.5377	10	0.30078	T	0.28	0.4949	8.6414	0.33978	0.0:0.1345:0.4621:0.4033	.	110	P14770	GPIX_HUMAN	H	110	ENSP00000303942:Q110H	ENSP00000303942:Q110H	Q	+	3	2	GP9	130263602	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	-3.946000	0.00328	-1.210000	0.02627	0.462000	0.41574	CAG	GP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358428.1		+	ENST00000307395.4	Missense_Mutation	SNP	3 : 128780912 - 128780912 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	205	22
ZNF578	147660	broad.mit.edu	37	19	53014089	53014089	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53014089T>G	ENST00000421239.2	+	6	699	c.455T>G	c.(454-456)aTt>aGt	p.I152S		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				NA				GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AACAAGCCTATTAAAGATCAG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	153	153			NA	NA	19		NA											NA				53014089		2203	4300	6503	SO:0001583	missense			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405	147660	147660		Zinc fingers, C2H2-type, -	26449	protein-coding gene	gene with protein product					NA		Standard	NM_152472	NM_001099694	NA	Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.455T>G	19.37:g.53014089T>G	ENSP00000459216:p.Ile152Ser	NA		37	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	12.89	2.074217	0.36566	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.27	1.27	0.21489	.	.	.	.	.	T	0.30823	0.0777	L	0.41415	1.275	0.09310	N	1	P	0.52061	0.95	P	0.46718	0.525	T	0.11060	-1.0603	7	.	.	.	.	6.038	0.19718	0.0:0.0:0.0:1.0	.	152	G3V4F6	.	S	152	.	.	I	+	2	0	ZNF578	57705901	0.000000	0.05858	0.019000	0.16419	0.195000	0.23768	0.305000	0.19254	0.574000	0.29417	0.113000	0.15668	ATT	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344298.3		+	ENST00000421239.2	Missense_Mutation	SNP	19 : 53014089 - 53014089 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	785	167
CSMD3	114788	broad.mit.edu	37	8	113519014	113519014	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113519014A>C	ENST00000297405.5	-	29	5045	c.4801T>G	c.(4801-4803)Tca>Gca	p.S1601A	CSMD3_ENST00000455883.2_Missense_Mutation_p.S1497A|CSMD3_ENST00000352409.3_Missense_Mutation_p.S1601A|CSMD3_ENST00000343508.3_Missense_Mutation_p.S1561A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1601	CUB 9.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAGTTTGGTGAAAGAATAAAG	0.378		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	110	113			NA	NA	8		NA											NA				113519014		2203	4300	6503	SO:0001583	missense			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796	114788	114788			19291	protein-coding gene	gene with protein product		608399			NA		Standard	NM_052900	NM_052900	NA	Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4801T>G	8.37:g.113519014A>C	ENSP00000297405:p.Ser1601Ala	NA	Q96PZ3	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.406395	0.83230	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65	4.99	4.99	0.66335	CUB (5);	0.000000	0.64402	D	0.000004	T	0.61009	0.2313	M	0.92649	3.33	0.36203	D	0.850835	P;P;D	0.54772	0.928;0.884;0.968	B;P;P	0.61800	0.335;0.525;0.894	T	0.74910	-0.3503	10	0.40728	T	0.16	.	14.85	0.70289	1.0:0.0:0.0:0.0	.	1497;1601;1561	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	A	1561;1601;941;1497;1601	ENSP00000345799:S1561A;ENSP00000297405:S1601A;ENSP00000341558:S941A;ENSP00000412263:S1497A;ENSP00000343124:S1601A	ENSP00000297405:S1601A	S	-	1	0	CSMD3	113588190	1.000000	0.71417	0.996000	0.52242	0.858000	0.48976	9.139000	0.94554	2.091000	0.63221	0.455000	0.32223	TCA	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347141.1		-	ENST00000297405.5	Missense_Mutation	SNP	8 : 113519014 - 113519014 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	45
ERCC1	2067	broad.mit.edu	37	19	45918173	45918173	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45918173C>T	ENST00000591636.1	-	5	729				ERCC1_ENST00000589165.1_Silent_p.E216E|ERCC1_ENST00000340192.7_Silent_p.E216E|ERCC1_ENST00000423698.2_Silent_p.E144E|ERCC1_ENST00000013807.5_Silent_p.E216E|ERCC1_ENST00000300853.3_Silent_p.E216E			P07992	ERCC1_HUMAN	excision repair cross-complementation group 1	NA					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		CTGGTTTCTGCTCATAGGCCT	0.602		NA						Nucleotide excision repair (NER)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	93	99			NA	NA	19		NA											NA				45918173		2203	4300	6503	SO:0001627	intron_variant				CCDS12662.1, CCDS12663.1, CCDS54279.1	19q13.32	2014-03-07	2014-03-07			ENSG00000012061	2067	2067			3433	protein-coding gene	gene with protein product		126380	excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)		NA	6462228	Standard	NM_001983	NM_001983	NA	Approved	RAD10	uc002pbs.2	P07992		ENST00000591636.1:c.602+1905G>A	19.37:g.45918173C>T		NA		37																																																																																				ERCC1-013	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000459547.1		-	ENST00000591636.1	Intron	SNP	19 : 45918173 - 45918173 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	311	45
FAM208A	23272	broad.mit.edu	37	3	56667861	56667861	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:56667861C>A	ENST00000431842.2	-	11	2571	c.1647G>T	c.(1645-1647)aaG>aaT	p.K549N	FAM208A_ENST00000493960.2_Missense_Mutation_p.K986N|FAM208A_ENST00000355628.5_Missense_Mutation_p.K925N	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	986										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						CAGTGGTGCCCTTTAGTGTGT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	42	43			NA	NA	3		NA											NA				56667861		2203	4300	6503	SO:0001583	missense			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946	23272	23272			30314	protein-coding gene	gene with protein product			chromosome 3 open reading frame 63	C3orf63	NA	10470851, 11149944	Standard	NM_015224	NM_015224	NA	Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000431842.2:c.1647G>T	3.37:g.56667861C>A	ENSP00000399410:p.Lys549Asn	NA	A1L3A4|B5ME28|Q9H2F7|Q9UPP7	37	CCDS2877.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.708249	0.48412	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.16073	2.38;2.37;2.76	5.62	2.78	0.32641	.	0.000000	0.64402	D	0.000001	T	0.30230	0.0758	L	0.48642	1.525	0.32880	D	0.510381	P;P;D;D	0.89917	0.909;0.865;1.0;0.995	P;P;D;P	0.74023	0.455;0.519;0.982;0.829	T	0.32188	-0.9916	10	0.38643	T	0.18	-16.7564	10.9266	0.47195	0.0:0.7829:0.0:0.2171	.	986;925;549;986	Q9UK61-3;Q9UK61-4;Q9UK61-2;Q9UK61	.;.;.;F208A_HUMAN	N	549;986;925	ENSP00000399410:K549N;ENSP00000417509:K986N;ENSP00000347845:K925N	ENSP00000347845:K925N	K	-	3	2	C3orf63	56642901	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.510000	0.35790	0.813000	0.34350	0.650000	0.86243	AAG	FAM208A-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352341.2		-	ENST00000431842.2	Missense_Mutation	SNP	3 : 56667861 - 56667861 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	193	37
SEP15	0	broad.mit.edu	37	1	87329266	87329266	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:87329266A>C	ENST00000331835.5	-	5	642	c.380T>G	c.(379-381)gTa>gGa	p.V127G	SEP15_ENST00000401030.3_Missense_Mutation_p.Y141D|SEP15_ENST00000370554.1_Missense_Mutation_p.C110W|SEP15_ENST00000469566.1_5'UTR	NM_004261.3	NP_004252.2	O60613	SEP15_HUMAN		NA					'de novo' posttranslational protein folding	endoplasmic reticulum lumen	selenium binding				NA		Lung NSC(277;0.153)		all cancers(265;0.00744)|Epithelial(280;0.0333)		AAGCTTTAATACAGGGTCTGA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	91	94			NA	NA	1		NA											NA				87329266		1882	4104	5986	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000331835.5:c.380T>G	1.37:g.87329266A>C	ENSP00000328729:p.Val127Gly	NA	Q4GZG7|Q8WU00|Q9BS64|Q9GZW0|Q9NR01	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	18.27|18.27|18.27	3.585955|3.585955|3.585955	0.66105|0.66105|0.66105	.|.|.	.|.|.	ENSG00000183291|ENSG00000183291|ENSG00000183291	ENST00000370554|ENST00000331835|ENST00000401030	.|.|.	.|.|.	.|.|.	5.68|5.68|5.68	5.68|5.68|5.68	0.88126|0.88126|0.88126	.|Thioredoxin-like fold (1);|.	.|0.272182|.	.|0.30809|.	.|N|.	.|0.008825|.	T|T|T	0.54431|0.54431|0.54431	0.1858|0.1858|0.1858	.|.|.	.|.|.	.|.|.	0.30850|0.30850|0.30850	N|N|N	0.734679|0.734679|0.734679	D|P|.	0.53885|0.49783|.	0.963|0.928|.	B|P|.	0.43950|0.51918|.	0.437|0.684|.	T|T|T	0.59306|0.59306|0.59306	-0.7479|-0.7479|-0.7479	7|8|5	0.87932|0.52906|0.87932	D|T|D	0|0.07|0	-23.4263|-23.4263|-23.4263	16.2107|16.2107|16.2107	0.82151|0.82151|0.82151	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	110|127|.	O60613-2|O60613|.	.|SEP15_HUMAN|.	W|G|D	110|127|141	.|.|.	ENSP00000359585:C110W|ENSP00000328729:V127G|ENSP00000383810:Y141D	C|V|Y	-|-|-	3|2|1	2|0|0	RP4-604K5.1|RP4-604K5.1|RP4-604K5.1	87101854|87101854|87101854	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.933000|0.933000|0.933000	0.37362|0.37362|0.37362	0.506000|0.506000|0.506000	0.33950|0.33950|0.33950	9.287000|9.287000|9.287000	0.95975|0.95975|0.95975	2.293000|2.293000|2.293000	0.77203|0.77203|0.77203	0.477000|0.477000|0.477000	0.44152|0.44152|0.44152	TGT|GTA|TAT	SEP15-001	KNOWN	basic|appris_principal|seleno	protein_coding	NA	protein_coding	OTTHUMT00000023518.1		-	ENST00000331835.5	Missense_Mutation	SNP	1 : 87329266 - 87329266 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	177	18
MYO3A	53904	broad.mit.edu	37	10	26462912	26462912	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26462912A>G	ENST00000265944.5	+	30	3885	c.3719A>G	c.(3718-3720)tAc>tGc	p.Y1240C	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1240					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATCCAGAGTTACTATCAGAGG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	106	105			NA	NA	10		NA											NA				26462912		2203	4300	6503	SO:0001583	missense			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777	53904	53904		Myosins / Myosin superfamily : Class III	7601	protein-coding gene	gene with protein product		606808	deafness, autosomal recessive 30	DFNB30	NA	10936054	Standard	NM_017433	NM_017433	NA	Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3719A>G	10.37:g.26462912A>G	ENSP00000265944:p.Tyr1240Cys	NA	Q5VZ28|Q8WX17|Q9NYS8	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	A	6.388	0.439646	0.12104	.	.	ENSG00000095777	ENST00000265944	T	0.77098	-1.07	4.89	-0.76	0.11041	.	1.242500	0.05268	N	0.516955	T	0.65133	0.2662	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.52373	-0.8584	10	0.62326	D	0.03	.	6.3292	0.21260	0.4619:0.0:0.0679:0.4702	.	1240	Q8NEV4	MYO3A_HUMAN	C	1240	ENSP00000265944:Y1240C	ENSP00000265944:Y1240C	Y	+	2	0	MYO3A	26502918	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.522000	0.22909	-0.321000	0.08627	-0.336000	0.08194	TAC	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047259.1		+	ENST00000265944.5	Missense_Mutation	SNP	10 : 26462912 - 26462912 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	439	84
IFNAR1	3454	broad.mit.edu	37	21	34727821	34727821	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34727821A>C	ENST00000270139.3	+	11	1792	c.1640A>C	c.(1639-1641)aAa>aCa	p.K547T	IFNAR1_ENST00000416947.2_Missense_Mutation_p.K478T|IFNAR1_ENST00000442357.2_Missense_Mutation_p.K486T	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	547					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	AGCGAAAGTAAAACAAGTGAA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(73;817 1211 32990 35667 42746)							NA				0													94	99	97			NA	NA	21		NA											NA				34727821		2203	4300	6503	SO:0001583	missense				CCDS13624.1	21q22.1	2008-05-02			ENSG00000142166	ENSG00000142166	3454	3454		Interferons	5432	protein-coding gene	gene with protein product		107450		IFNAR	NA	8181059	Standard		NM_000629	NA	Approved	IFRC	uc002yrn.3	P17181	OTTHUMG00000065126	ENST00000270139.3:c.1640A>C	21.37:g.34727821A>C	ENSP00000270139:p.Lys547Thr	NA	D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	37	CCDS13624.1	.	.	.	.	.	.	.	.	.	.	A	11.35	1.612357	0.28712	.	.	ENSG00000142166	ENST00000416947;ENST00000270139;ENST00000442357	T;T;T	0.48522	0.81;0.94;1.52	5.3	1.68	0.24146	.	2.586540	0.00929	N	0.002695	T	0.55146	0.1902	M	0.73598	2.24	0.09310	N	1	D	0.56521	0.976	P	0.46685	0.524	T	0.32455	-0.9906	10	0.45353	T	0.12	-8.2839	6.7289	0.23373	0.7204:0.0:0.2796:0.0	.	547	P17181	INAR1_HUMAN	T	478;547;486	ENSP00000395606:K478T;ENSP00000270139:K547T;ENSP00000407406:K486T	ENSP00000270139:K547T	K	+	2	0	IFNAR1	33649691	0.001000	0.12720	0.000000	0.03702	0.217000	0.24651	1.024000	0.30077	0.047000	0.15862	0.533000	0.62120	AAA	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000139823.4		+	ENST00000270139.3	Missense_Mutation	SNP	21 : 34727821 - 34727821 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	377	76
COL6A1	1291	broad.mit.edu	37	21	47423624	47423624	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47423624C>T	ENST00000361866.3	+	35	2898	c.2784C>T	c.(2782-2784)cgC>cgT	p.R928R	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	928	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GCTTCTACCGCGAGGCCTCGT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	26	28			NA	NA	21		NA											NA				47423624		2202	4298	6500	SO:0001819	synonymous_variant			M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156	1291	1291		Collagens	2211	protein-coding gene	gene with protein product		120220			NA		Standard	NM_001848	XM_006723964	NA	Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2784C>T	21.37:g.47423624C>T		NA	O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	37	CCDS13727.1																																																																																			COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206877.1		+	ENST00000361866.3	Silent	SNP	21 : 47423624 - 47423624 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	211	45
B4GALT5	9334	broad.mit.edu	37	20	48252915	48252915	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:48252915G>A	ENST00000371711.4	-	9	1288	c.1101C>T	c.(1099-1101)taC>taT	p.Y367Y		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	367					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			ACAAGGCGTCGTATGTGATGT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													273	232	246			NA	NA	20		NA											NA				48252915		2203	4300	6503	SO:0001819	synonymous_variant			AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470	9334	9334		Beta 4-glycosyltransferases	928	protein-coding gene	gene with protein product	beta4-GalT IV	604016			NA	9597550, 9435216	Standard	NM_004776	NM_004776	NA	Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.1101C>T	20.37:g.48252915G>A		NA	E1P625|Q2M394|Q9UJQ8	37	CCDS13420.1																																																																																			B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080543.3		-	ENST00000371711.4	Silent	SNP	20 : 48252915 - 48252915 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	458	81
CECR6	27439	broad.mit.edu	37	22	17601069	17601069	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17601069C>T	ENST00000331437.3	-	1	1074	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	CECR6_ENST00000399875.1_Intron	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	317	Ala-rich.									haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		ATAAGCCAGGCCAGGTAGGCG	0.731		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	49	52			NA	NA	22		NA											NA				17601069		2203	4295	6498	SO:0001583	missense			AF307451	CCDS13740.1, CCDS54494.1	22q11.2	2008-06-12			ENSG00000183307	ENSG00000183307	27439	27439			1844	protein-coding gene	gene with protein product					NA	11381032	Standard	NM_031890	NM_031890	NA	Approved		uc002zmb.2	Q9BXQ6	OTTHUMG00000030471	ENST00000331437.3:c.949G>A	22.37:g.17601069C>T	ENSP00000329318:p.Ala317Thr	NA		37	CCDS13740.1	.	.	.	.	.	.	.	.	.	.	c	17.33	3.363564	0.61513	.	.	ENSG00000183307	ENST00000331437	.	.	.	3.51	3.51	0.40186	.	0.000000	0.64402	U	0.000013	T	0.64670	0.2619	L	0.32530	0.975	0.49299	D	0.999779	D	0.76494	0.999	D	0.74023	0.982	T	0.68307	-0.5443	9	0.59425	D	0.04	.	13.9866	0.64339	0.0:1.0:0.0:0.0	.	317	Q9BXQ6	CECR6_HUMAN	T	317	.	ENSP00000329318:A317T	A	-	1	0	CECR6	15981069	1.000000	0.71417	1.000000	0.80357	0.531000	0.34715	5.099000	0.64554	1.690000	0.51089	0.450000	0.29827	GCC	CECR6-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075359.4		-	ENST00000331437.3	Missense_Mutation	SNP	22 : 17601069 - 17601069 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	466	99
WFS1	7466	broad.mit.edu	37	4	6303071	6303071	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6303071C>T	ENST00000226760.1	+	8	1719	c.1549C>T	c.(1549-1551)Cgc>Tgc	p.R517C	WFS1_ENST00000503569.1_Missense_Mutation_p.R517C	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	517					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TCTCTTCTTCCGCATGGCACA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CD993079	WFS1	D			CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	122	100	107		1549,1549	3.5	1	4		107	0,8600		0,0,4300	no	missense,missense	WFS1	NM_006005.3,NM_001145853.1	180,180	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	benign,benign	517/891,517/891	6303071	1,13005	2203	4300	6503	SO:0001583	missense			AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501	7466	7466			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38	NA	7987399, 9771706	Standard		NM_006005	NA	Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1549C>T	4.37:g.6303071C>T	ENSP00000226760:p.Arg517Cys	NA	B2R797|D3DVT1|Q8N6I3|Q9UNW6	37	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	C	9.971	1.225411	0.22457	2.27E-4	0.0	ENSG00000109501	ENST00000503569;ENST00000226760	D;D	0.81821	-1.54;-1.54	4.38	3.45	0.39498	.	0.127040	0.53938	D	0.000044	T	0.75496	0.3857	M	0.61703	1.905	0.53688	D	0.999979	B	0.22414	0.069	B	0.16722	0.016	T	0.76591	-0.2903	10	0.87932	D	0	-51.3577	9.4528	0.38736	0.3831:0.6168:0.0:0.0	.	517	O76024	WFS1_HUMAN	C	517	ENSP00000423337:R517C;ENSP00000226760:R517C	ENSP00000226760:R517C	R	+	1	0	WFS1	6353972	0.999000	0.42202	1.000000	0.80357	0.977000	0.68977	2.007000	0.40883	2.269000	0.75478	0.561000	0.74099	CGC	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206863.1		+	ENST00000226760.1	Missense_Mutation	SNP	4 : 6303071 - 6303071 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	697	124
MEI1	150365	broad.mit.edu	37	22	42095601	42095601	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42095601C>T	ENST00000401548.3	+	1	99	c.59C>T	c.(58-60)gCg>gTg	p.A20V	MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000540833.1_5'UTR|MEI1_ENST00000300398.4_5'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	20							binding	p.A20V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GAGGAAGAGGCGGCGCTTCTA	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											17	25	22			NA	NA	22		NA											NA				42095601		1956	4123	6079	SO:0001583	missense			AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077	150365	150365			28613	protein-coding gene	gene with protein product	spermatogenesis associated 38	608797			NA	16683055	Standard	NM_152513	XM_006724154	NA	Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.59C>T	22.37:g.42095601C>T	ENSP00000384115:p.Ala20Val	NA	B7Z745|Q1XAP1|Q1XAP2|Q8IYJ5|Q8N5K5|Q8N9H3|Q8TC68	37	CCDS46718.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005677	0.35415	.	.	ENSG00000167077	ENST00000401548	T	0.19532	2.14	4.56	4.56	0.56223	.	0.316936	0.26738	N	0.022749	T	0.18425	0.0442	L	0.54323	1.7	0.80722	D	1	P;P	0.43287	0.802;0.802	B;B	0.35182	0.197;0.197	T	0.02567	-1.1140	10	0.66056	D	0.02	.	9.9904	0.41868	0.2018:0.7982:0.0:0.0	.	20;20	Q5TIA1;Q5TIA1-4	MEI1_HUMAN;.	V	20	ENSP00000384115:A20V	ENSP00000384115:A20V	A	+	2	0	MEI1	40425547	0.923000	0.31300	1.000000	0.80357	0.053000	0.15095	2.154000	0.42291	2.366000	0.80165	0.467000	0.42956	GCG	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000074937.3		+	ENST00000401548.3	Missense_Mutation	SNP	22 : 42095601 - 42095601 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	14
SLC8A2	6543	broad.mit.edu	37	19	47969093	47969093	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47969093G>A	ENST00000236877.6	-	2	963	c.568C>T	c.(568-570)Cgc>Tgc	p.R190C	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	190					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TTGATCTTGCGGCTCTCGCCG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	47	53			NA	NA	19		NA											NA				47969093		2203	4300	6503	SO:0001583	missense			AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160	6543	6543		Solute carriers	11069	protein-coding gene	gene with protein product		601901			NA	8021246	Standard		NM_015063	NA	Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.568C>T	19.37:g.47969093G>A	ENSP00000236877:p.Arg190Cys	NA	B4DYQ9	37	CCDS33065.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280534	0.80692	.	.	ENSG00000118160	ENST00000391903;ENST00000236877	T	0.66460	-0.21	4.04	4.04	0.47022	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.85669	0.5750	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89913	0.4053	10	0.87932	D	0	.	15.1426	0.72623	0.0:0.0:1.0:0.0	.	18;190	E9PGS7;Q9UPR5	.;NAC2_HUMAN	C	18;190	ENSP00000236877:R190C	ENSP00000236877:R190C	R	-	1	0	SLC8A2	52660905	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	2.695000	0.47043	2.098000	0.63641	0.462000	0.41574	CGC	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466997.1		-	ENST00000236877.6	Missense_Mutation	SNP	19 : 47969093 - 47969093 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	224	39
ZFHX3	463	broad.mit.edu	37	16	72830247	72830247	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72830247C>A	ENST00000268489.5	-	9	7006	c.6334G>T	c.(6334-6336)Gct>Tct	p.A2112S	ZFHX3_ENST00000397992.5_Missense_Mutation_p.A1198S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2112					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGTAGCTGAGCCGGCAAGGTC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	45	46			NA	NA	16		NA											NA				72830247		2198	4300	6498	SO:0001583	missense			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836	463	463		Zinc fingers, C2H2-type, Homeoboxes / ZF class	777	protein-coding gene	gene with protein product		104155	AT-binding transcription factor 1	ATBF1	NA	1719379, 7592926	Standard	NM_006885	NM_006885	NA	Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.6334G>T	16.37:g.72830247C>A	ENSP00000268489:p.Ala2112Ser	NA	D3DWS8|O15101|Q13719	37	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	6.497	0.459948	0.12342	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.73469	-0.75;-0.74	5.4	5.4	0.78164	.	0.000000	0.49916	D	0.000135	T	0.59783	0.2219	N	0.12182	0.205	0.43756	D	0.996261	B	0.14438	0.01	B	0.13407	0.009	T	0.54214	-0.8327	10	0.20046	T	0.44	.	19.1839	0.93635	0.0:1.0:0.0:0.0	.	2112	Q15911	ZFHX3_HUMAN	S	2112;1198	ENSP00000268489:A2112S;ENSP00000438926:A1198S	ENSP00000268489:A2112S	A	-	1	0	ZFHX3	71387748	0.993000	0.37304	0.314000	0.25224	0.145000	0.21501	3.019000	0.49635	2.523000	0.85059	0.655000	0.94253	GCT	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269008.1		-	ENST00000268489.5	Missense_Mutation	SNP	16 : 72830247 - 72830247 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	436	86
ITGB4	3691	broad.mit.edu	37	17	73723936	73723936	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73723936G>A	ENST00000200181.3	+	5	656	c.469G>A	c.(469-471)Gct>Act	p.A157T	ITGB4_ENST00000450894.3_Splice_Site_p.A157T|ITGB4_ENST00000579662.1_Splice_Site_p.A157T|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Splice_Site_p.A157T|ITGB4_ENST00000449880.2_Splice_Site_p.A157T	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	157	VWFA.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCAGAACCTGGGTACGGCAGG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	49	49			NA	NA	17		NA											NA				73723936		2203	4300	6503	SO:0001630	splice_region_variant				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470	3691	3691		CD molecules, Integrins, Fibronectin type III domain containing	6158	protein-coding gene	gene with protein product		147557			NA	2070796	Standard		XM_005257309	NA	Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.469+1G>A	17.37:g.73723936G>A		NA	O14690|O14691|O15339|O15340|O15341|Q9UIQ4	37	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799179	0.50208	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.97850	-4.57;-4.57;-4.57	5.31	5.31	0.75309	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.98642	0.9545	M	0.77313	2.365	0.80722	D	1	P;P;D;D	0.71674	0.928;0.875;0.998;0.998	P;P;D;D	0.72338	0.672;0.581;0.977;0.977	D	0.99840	1.1061	10	0.87932	D	0	.	18.9824	0.92760	0.0:0.0:1.0:0.0	.	157;157;157;157	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	T	73;157;157;157	ENSP00000200181:A157T;ENSP00000344079:A157T;ENSP00000400217:A157T	ENSP00000200181:A157T	A	+	1	0	ITGB4	71235531	1.000000	0.71417	0.999000	0.59377	0.438000	0.31896	9.467000	0.97671	2.500000	0.84329	0.591000	0.81541	GCT	ITGB4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448334.1	Missense_Mutation	+	ENST00000200181.3	Splice_Site	SNP	17 : 73723936 - 73723936 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	189	33
ZER1	10444	broad.mit.edu	37	9	131495800	131495800	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131495800C>A	ENST00000291900.2	-	15	2554	c.2148G>T	c.(2146-2148)aaG>aaT	p.K716N		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	716					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity	p.K716K(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						GAGGGCAGTACTTGTCCGCTG	0.567		NA									OREG0019523	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	kidney(1)											58	48	52			NA	NA	9		NA											NA				131495800		2203	4300	6503	SO:0001583	missense			X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445	10444	10444		ZYG11 cell cycle regulator family	30960	protein-coding gene	gene with protein product			chromosome 9 open reading frame 60, zyg-11 homolog B (C. elegans)-like, zer-1 homolog (C. elegans)	C9orf60, ZYG11BL	NA	11719588	Standard	NM_006336	NM_006336	NA	Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.2148G>T	9.37:g.131495800C>A	ENSP00000291900:p.Lys716Asn	1588	O00156|Q5T272|Q5T273	37	CCDS6910.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954837	0.73902	.	.	ENSG00000160445	ENST00000291900	T	0.65549	-0.16	5.77	2.84	0.33178	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74884	0.3775	M	0.79011	2.435	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.72609	-0.4241	10	0.54805	T	0.06	-44.6261	7.6963	0.28596	0.0:0.6569:0.0:0.3431	.	716	Q7Z7L7	ZER1_HUMAN	N	716	ENSP00000291900:K716N	ENSP00000291900:K716N	K	-	3	2	ZER1	130535621	0.996000	0.38824	1.000000	0.80357	0.994000	0.84299	0.446000	0.21694	0.395000	0.25257	0.655000	0.94253	AAG	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054491.1		-	ENST00000291900.2	Missense_Mutation	SNP	9 : 131495800 - 131495800 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	112	22
TANC1	85461	broad.mit.edu	37	2	160031536	160031536	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160031536G>A	ENST00000263635.6	+	12	1813	c.1576G>A	c.(1576-1578)Gca>Aca	p.A526T	TANC1_ENST00000454300.1_Missense_Mutation_p.A420T	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	526						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GCACAGCATCGCAGCTTTGCT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													212	212	212			NA	NA	2		NA											NA				160031536		2113	4222	6335	SO:0001583	missense			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183	85461	85461		Ankyrin repeat domain containing, Tetratricopeptide (TTC) repeat domain containing	29364	protein-coding gene	gene with protein product	rolling pebbles homolog B (Drosophila)	611397			NA	15673434	Standard		NM_033394	NA	Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.1576G>A	2.37:g.160031536G>A	ENSP00000263635:p.Ala526Thr	NA	C9JD88|Q49AI8	37	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678943	0.88542	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.76968	-1.02;-1.06	5.6	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.88224	0.6379	M	0.80616	2.505	0.80722	D	1	P;P;D	0.89917	0.868;0.919;1.0	B;B;D	0.78314	0.132;0.369;0.991	D	0.89947	0.4077	10	0.87932	D	0	.	15.7049	0.77569	0.0:0.0:0.8621:0.1379	.	518;420;526	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	T	420;526	ENSP00000396339:A420T;ENSP00000263635:A526T	ENSP00000263635:A526T	A	+	1	0	TANC1	159739782	1.000000	0.71417	0.329000	0.25429	0.901000	0.52897	7.690000	0.84178	1.325000	0.45301	0.655000	0.94253	GCA	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333135.1		+	ENST00000263635.6	Missense_Mutation	SNP	2 : 160031536 - 160031536 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1682	436
NES	10763	broad.mit.edu	37	1	156639791	156639791	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156639791G>A	ENST00000368223.3	-	4	4321	c.4189C>T	c.(4189-4191)Cta>Tta	p.L1397L		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1397	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGATCCAGTAGCAGCTGGGGC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	37	35			NA	NA	1		NA											NA				156639791		2203	4299	6502	SO:0001819	synonymous_variant			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688	10763	10763		Intermediate filaments type IV	7756	protein-coding gene	gene with protein product		600915			NA	1478958, 9104587	Standard	NM_006617	NM_006617	NA	Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.4189C>T	1.37:g.156639791G>A		NA	O00552|Q3LIF5|Q5SYZ6	37	CCDS1151.1																																																																																			NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000082844.2		-	ENST00000368223.3	Silent	SNP	1 : 156639791 - 156639791 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	338	79
ERC1	23085	broad.mit.edu	37	12	1137623	1137623	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1137623G>T	ENST00000397203.2	+	2	960	c.554G>T	c.(553-555)aGc>aTc	p.S185I	ERC1_ENST00000546231.2_Missense_Mutation_p.S185I|ERC1_ENST00000543086.3_Missense_Mutation_p.S185I|ERC1_ENST00000355446.5_Missense_Mutation_p.S185I|ERC1_ENST00000360905.4_Missense_Mutation_p.S185I|ERC1_ENST00000589028.1_Missense_Mutation_p.S185I			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	185					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			TCAATGAATAGCATCAAGACC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	84	86			NA	NA	12		NA											NA				1137623		2203	4300	6503	SO:0001583	missense			AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805	23085	23085			17072	protein-coding gene	gene with protein product		607127	RAB6 interacting protein 2	RAB6IP2	NA	10697956, 11929610	Standard	NM_015064	NM_178040	NA	Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.554G>T	12.37:g.1137623G>T	ENSP00000380386:p.Ser185Ile	NA	A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	37	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.020112	0.54576	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394	T;T;T;T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64	5.66	5.66	0.87406	.	0.091385	0.85682	D	0.000000	T	0.70518	0.3233	M	0.74647	2.275	0.49299	D	0.999773	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.77557	0.952;0.965;0.99	T	0.70781	-0.4779	10	0.52906	T	0.07	-12.3985	19.7395	0.96220	0.0:0.0:1.0:0.0	.	185;185;185	Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;RB6I2_HUMAN	I	185	ENSP00000340054:S185I;ENSP00000380386:S185I;ENSP00000438546:S185I;ENSP00000445336:S185I;ENSP00000442976:S185I;ENSP00000442739:S185I;ENSP00000347621:S185I;ENSP00000354158:S185I;ENSP00000410064:S185I	ENSP00000299183:S185I	S	+	2	0	ERC1	1007884	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.147000	0.71783	2.669000	0.90835	0.655000	0.94253	AGC	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398380.2		+	ENST00000397203.2	Missense_Mutation	SNP	12 : 1137623 - 1137623 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	350	57
TGFB2	7042	broad.mit.edu	37	1	218520115	218520115	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:218520115C>T	ENST00000366929.4	+	1	539	c.72C>T	c.(70-72)tgC>tgT	p.C24C	TGFB2_ENST00000366930.4_Silent_p.C24C	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	24					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		TGTCTACCTGCAGCACACTCG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	89	88			NA	NA	1		NA											NA				218520115		2203	4300	6503	SO:0001819	synonymous_variant			M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969	7042	7042		Endogenous ligands	11768	protein-coding gene	gene with protein product	prepro-transforming growth factor beta-2	190220			NA		Standard	NM_003238	NM_003238	NA	Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366929.4:c.72C>T	1.37:g.218520115C>T		NA	B4DKC5|P08112|Q15579|Q15581|Q4VAV9	37	CCDS44318.1																																																																																			TGFB2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095360.2		+	ENST00000366929.4	Silent	SNP	1 : 218520115 - 218520115 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	598	133
NDC1	55706	broad.mit.edu	37	1	54291547	54291547	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54291547C>A	ENST00000371429.3	-	5	1116	c.518G>T	c.(517-519)gGa>gTa	p.G173V	NDC1_ENST00000480952.1_5'UTR|NDC1_ENST00000537333.1_5'UTR|NDC1_ENST00000234725.8_Missense_Mutation_p.G58V|NDC1_ENST00000540001.1_Missense_Mutation_p.G173V	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3			NDC1 transmembrane nucleoporin	NA											NA						CATAAATGCTCCAGTCAGTAG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	96	96			NA	NA	1		NA											NA				54291547		2203	4300	6503	SO:0001583	missense			AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804	55706	55706			25525	protein-coding gene	gene with protein product	nuclear division cycle 1 homolog (S. cerevisiae)	610115	transmembrane protein 48	TMEM48	NA	16779818, 12958361	Standard	NM_018087	NR_033142	NA	Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.518G>T	1.37:g.54291547C>A	ENSP00000360483:p.Gly173Val	NA		37	CCDS583.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611358	0.87258	.	.	ENSG00000058804	ENST00000371429;ENST00000360494;ENST00000540001;ENST00000234725	T;T;T	0.50001	0.76;0.76;0.76	5.26	5.26	0.73747	.	0.101474	0.64402	D	0.000002	T	0.66567	0.2802	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.59653	-0.7414	10	0.17369	T	0.5	.	19.2925	0.94108	0.0:1.0:0.0:0.0	.	133;173	B4DHA3;Q9BTX1	.;NDC1_HUMAN	V	173;173;173;58	ENSP00000360483:G173V;ENSP00000440873:G173V;ENSP00000234725:G58V	ENSP00000234725:G58V	G	-	2	0	TMEM48	54064135	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.552000	0.73914	2.631000	0.89168	0.460000	0.39030	GGA	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022101.1		-	ENST00000371429.3	Missense_Mutation	SNP	1 : 54291547 - 54291547 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	319	80
MMP16	4325	broad.mit.edu	37	8	89054008	89054008	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:89054008T>G	ENST00000286614.6	-	10	1786	c.1505A>C	c.(1504-1506)tAc>tCc	p.Y502S		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	502	Hemopexin-like 4.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CTTTCCTTTGTAGAAATACGT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	112	117			NA	NA	8		NA											NA				89054008		2203	4300	6503	SO:0001583	missense			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103	4325	4325			7162	protein-coding gene	gene with protein product		602262	matrix metalloproteinase 16 (membrane-inserted), chromosome 8 open reading frame 57	C8orf57	NA	7559440	Standard	NM_005941	NM_005941	NA	Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1505A>C	8.37:g.89054008T>G	ENSP00000286614:p.Tyr502Ser	NA	B2RAN7|Q14824|Q52H48	37	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.175308	0.78564	.	.	ENSG00000156103	ENST00000286614	T	0.02579	4.24	5.86	5.86	0.93980	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.22360	0.0539	M	0.91972	3.26	0.80722	D	1	P	0.47962	0.903	D	0.79108	0.992	T	0.01010	-1.1482	10	0.66056	D	0.02	.	16.254	0.82501	0.0:0.0:0.0:1.0	.	502	P51512	MMP16_HUMAN	S	502	ENSP00000286614:Y502S	ENSP00000286614:Y502S	Y	-	2	0	MMP16	89123124	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.036000	0.88901	2.232000	0.73038	0.533000	0.62120	TAC	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375304.2		-	ENST00000286614.6	Missense_Mutation	SNP	8 : 89054008 - 89054008 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	210	39
RBBP6	5930	broad.mit.edu	37	16	24581622	24581622	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24581622C>T	ENST00000319715.4	+	17	4043	c.3611C>T	c.(3610-3612)gCg>gTg	p.A1204V	RBBP6_ENST00000348022.2_Missense_Mutation_p.A1170V|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1204					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.A1204V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TCTTTAAGTGCGCCAGCCAAA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											42	47	45			NA	NA	16		NA											NA				24581622		2197	4298	6495	SO:0001583	missense				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257	5930	5930			9889	protein-coding gene	gene with protein product	proliferation potential-related protein	600938	retinoblastoma-binding protein 6		NA	8595913, 16396680	Standard	NM_006910	NM_006910	NA	Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.3611C>T	16.37:g.24581622C>T	ENSP00000317872:p.Ala1204Val	NA	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	37	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	c	9.642	1.139303	0.21205	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.17213	2.29;2.29	5.59	4.65	0.58169	.	0.314743	0.27227	N	0.020321	T	0.09423	0.0232	N	0.14661	0.345	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.06405	0.002;0.001	T	0.19679	-1.0298	10	0.41790	T	0.15	-2.5212	6.7918	0.23703	0.1431:0.7081:0.0:0.1488	.	1170;1204	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	V	1204;1170	ENSP00000317872:A1204V;ENSP00000316291:A1170V	ENSP00000317872:A1204V	A	+	2	0	RBBP6	24489123	0.998000	0.40836	0.735000	0.30896	0.050000	0.14768	2.636000	0.46545	1.368000	0.46115	-0.119000	0.15052	GCG	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214067.2		+	ENST00000319715.4	Missense_Mutation	SNP	16 : 24581622 - 24581622 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	496	91
MYL10	93408	broad.mit.edu	37	7	101256954	101256954	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101256954G>T	ENST00000223167.4	-	7	747	c.570C>A	c.(568-570)ttC>ttA	p.F190L		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	190	EF-hand 3.					mitochondrion	calcium ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						CCTCCTCACTGAAGCGGTCTG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(24;575 709 17516 40384 51639)							NA				0													153	129	137			NA	NA	7		NA											NA				101256954		2203	4300	6503	SO:0001583	missense			BC002778	CCDS34713.1	7q22.1	2013-01-10			ENSG00000106436	ENSG00000106436	93408	93408		Myosins / Light chain, EF-hand domain containing	29825	protein-coding gene	gene with protein product					NA	1628631	Standard	NM_138403	NM_138403	NA	Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	Q9BUA6	OTTHUMG00000157137	ENST00000223167.4:c.570C>A	7.37:g.101256954G>T	ENSP00000223167:p.Phe190Leu	NA		37	CCDS34713.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575912	0.86645	.	.	ENSG00000106436	ENST00000223167	T	0.74315	-0.83	4.61	3.71	0.42584	EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	T	0.76026	0.3930	L	0.58583	1.82	0.52501	D	0.999956	D	0.55172	0.97	P	0.52758	0.708	T	0.75510	-0.3292	10	0.39692	T	0.17	.	10.8521	0.46775	0.0964:0.0:0.9036:0.0	.	190	Q9BUA6	MYL10_HUMAN	L	190	ENSP00000223167:F190L	ENSP00000223167:F190L	F	-	3	2	MYL10	101043674	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.324000	0.52022	2.122000	0.65172	0.650000	0.86243	TTC	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347575.1		-	ENST00000223167.4	Missense_Mutation	SNP	7 : 101256954 - 101256954 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	523	71
FAM149A	25854	broad.mit.edu	37	4	187088339	187088339	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187088339C>T	ENST00000502970.1	+	12	1716	c.1298C>T	c.(1297-1299)tCg>tTg	p.S433L	FAM149A_ENST00000356371.5_Missense_Mutation_p.S724L|FAM149A_ENST00000389354.5_Missense_Mutation_p.S433L|FAM149A_ENST00000503432.1_Missense_Mutation_p.S433L|FAM149A_ENST00000514153.1_Missense_Mutation_p.S433L|FAM149A_ENST00000227065.4_Missense_Mutation_p.S433L			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	724										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		TTCCAGCAGTCGGATACGCCT	0.378		NA											C	1	5e-04	0.002	NA	2184	NA	0.9998	,	,	NA	3e-04	NA	NA	NA	5e-04	0.8407	EXOME	NA	NA	0.001	SNP								NA				0													108	109	109			NA	NA	4		NA											NA				187088339		2203	4300	6503	SO:0001583	missense			AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794	25854	25854			24527	protein-coding gene	gene with protein product					NA		Standard	NM_001006655	NM_015398	NA	Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000502970.1:c.1298C>T	4.37:g.187088339C>T	ENSP00000427155:p.Ser433Leu	NA	B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	37	CCDS34117.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	8.648|8.648	0.897607|0.897607	0.17686|0.17686	.|.	.|.	ENSG00000109794|ENSG00000109794	ENST00000510843|ENST00000503432;ENST00000356371;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354	.|T;T;T;T;T;T	.|0.14391	.|2.56;2.51;2.56;2.56;2.56;2.56	5.62|5.62	-0.166|-0.166	0.13351|0.13351	.|.	.|0.864286	.|0.10118	.|N	.|0.713851	T|T	0.12603|0.12603	0.0306|0.0306	L|L	0.41824|0.41824	1.3|1.3	0.20403|0.20403	N|N	0.999901|0.999901	.|B;B	.|0.17667	.|0.023;0.017	.|B;B	.|0.08055	.|0.003;0.003	T|T	0.26815|0.26815	-1.0092|-1.0092	5|10	.|0.42905	.|T	.|0.14	-0.0171|-0.0171	12.6812|12.6812	0.56922|0.56922	0.0:0.6903:0.0:0.3097|0.0:0.6903:0.0:0.3097	.|.	.|723;724	.|A5PLN7-3;A5PLN7	.|.;F149A_HUMAN	W|L	111|433;724;433;433;433;433	.|ENSP00000426835:S433L;ENSP00000348732:S724L;ENSP00000227065:S433L;ENSP00000427155:S433L;ENSP00000424380:S433L;ENSP00000374005:S433L	.|ENSP00000227065:S433L	R|S	+|+	1|2	2|0	FAM149A|FAM149A	187325333|187325333	0.005000|0.005000	0.15991|0.15991	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	-0.223000|-0.223000	0.09177|0.09177	-0.404000|-0.404000	0.07610|0.07610	-2.368000|-2.368000	0.00236|0.00236	CGG|TCG	FAM149A-006	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361206.1		+	ENST00000502970.1	Missense_Mutation	SNP	4 : 187088339 - 187088339 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	663	146
POTEF	728378	broad.mit.edu	37	2	130877873	130877873	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130877873G>A	ENST00000409914.2	-	3	615	c.216C>T	c.(214-216)tgC>tgT	p.C72C	POTEF_ENST00000357462.5_Silent_p.C72C|POTEF_ENST00000360967.5_Silent_p.C72C|POTEF_ENST00000361163.4_Silent_p.C72C	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	72						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CACTCCCCCTGCAGCAGGGGA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	112	101			NA	NA	2		NA											NA				130877873		2190	4295	6485	SO:0001819	synonymous_variant			EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604	728378	728378		POTE ankyrin domain containing, Ankyrin repeat domain containing	33905	protein-coding gene	gene with protein product			ANKRD26-like family C, member 1B	A26C1B	NA	17101985	Standard	NM_001099771	NM_001099771	NA	Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.216C>T	2.37:g.130877873G>A		NA	A6NC34	37	CCDS46409.1																																																																																			POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331889.2		-	ENST00000409914.2	Silent	SNP	2 : 130877873 - 130877873 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1308	55
ZNFX1	57169	broad.mit.edu	37	20	47865209	47865209	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47865209C>T	ENST00000396105.1	-	14	4598	c.4352G>A	c.(4351-4353)aGc>aAc	p.S1451N	ZNFX1_ENST00000371752.1_Missense_Mutation_p.S1451N|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1451							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTCGAAGCAGCTGTGGCAGGA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	44	44			NA	NA	20		NA											NA				47865209		2203	4300	6503	SO:0001583	missense			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201	57169	57169			29271	protein-coding gene	gene with protein product					NA	10718198	Standard	NM_021035	NM_021035	NA	Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.4352G>A	20.37:g.47865209C>T	ENSP00000379412:p.Ser1451Asn	NA	Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	37	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	C	9.303	1.053567	0.19907	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	T;T	0.56776	0.44;0.44	6.07	3.83	0.44106	.	0.355484	0.33235	N	0.005129	T	0.39358	0.1075	L	0.43757	1.38	0.23886	N	0.99656	B	0.02656	0.0	B	0.06405	0.002	T	0.15549	-1.0433	10	0.25106	T	0.35	-19.6266	7.0874	0.25266	0.0:0.6048:0.2292:0.166	.	1451	Q9P2E3	ZNFX1_HUMAN	N	1451	ENSP00000360817:S1451N;ENSP00000379412:S1451N	ENSP00000360817:S1451N	S	-	2	0	ZNFX1	47298616	0.006000	0.16342	1.000000	0.80357	0.907000	0.53573	0.683000	0.25349	1.578000	0.49821	0.655000	0.94253	AGC	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079647.2		-	ENST00000396105.1	Missense_Mutation	SNP	20 : 47865209 - 47865209 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	269	55
FAM83F	113828	broad.mit.edu	37	22	40417900	40417900	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40417900C>T	ENST00000333407.6	+	4	1480	c.1386C>T	c.(1384-1386)acC>acT	p.T462T	FAM83F_ENST00000473717.1_Silent_p.T294T	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	NA										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CTGTCTCCACCGAGACCTCTG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	54	51			NA	NA	22		NA											NA				40417900		2130	4250	6380	SO:0001819	synonymous_variant				CCDS14000.2	22q13.1	2006-03-22			ENSG00000133477	ENSG00000133477	113828	113828			25148	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_138435	NM_138435	NA	Approved		uc003ayk.1	Q8NEG4	OTTHUMG00000150688	ENST00000333407.6:c.1386C>T	22.37:g.40417900C>T		NA	Q96FD6	37	CCDS14000.2																																																																																			FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319624.3		+	ENST00000333407.6	Silent	SNP	22 : 40417900 - 40417900 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	440	68
KDM4B	23030	broad.mit.edu	37	19	5077407	5077407	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5077407G>A	ENST00000159111.4	+	8	924	c.706G>A	c.(706-708)Gac>Aac	p.D236N	KDM4B_ENST00000536461.1_Missense_Mutation_p.D236N|KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000381759.4_Missense_Mutation_p.D236N	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	236	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GCAGGGCTGCGACGCCTTCCT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	134	133			NA	NA	19		NA											NA				5077407		2203	4300	6503	SO:0001583	missense			AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663	23030	23030		Chromatin-modifying enzymes / K-demethylases, Tudor domain containing	29136	protein-coding gene	gene with protein product	tudor domain containing 14B	609765	jumonji domain containing 2B	JMJD2B	NA	10048485, 15138608	Standard	NM_015015	NM_015015	NA	Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.706G>A	19.37:g.5077407G>A	ENSP00000159111:p.Asp236Asn	NA	B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	37	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760404	0.69763	.	.	ENSG00000127663	ENST00000159111;ENST00000381759;ENST00000536461	T;T;T	0.71461	-0.57;-0.57;-0.57	4.52	4.52	0.55395	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	T	0.53465	0.1798	N	0.05383	-0.06	0.80722	D	1	B;B;B	0.15473	0.01;0.013;0.013	B;B;B	0.18561	0.013;0.003;0.022	T	0.50792	-0.8786	10	0.39692	T	0.17	-28.7526	17.2595	0.87066	0.0:0.0:1.0:0.0	.	236;236;236	F5GX28;O94953-2;O94953	.;.;KDM4B_HUMAN	N	236	ENSP00000159111:D236N;ENSP00000371178:D236N;ENSP00000440495:D236N	ENSP00000159111:D236N	D	+	1	0	KDM4B	5028407	1.000000	0.71417	0.916000	0.36221	0.936000	0.57629	9.690000	0.98676	2.066000	0.61787	0.462000	0.41574	GAC	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450558.1		+	ENST00000159111.4	Missense_Mutation	SNP	19 : 5077407 - 5077407 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1657	264
OR10S1	219873	broad.mit.edu	37	11	123847863	123847863	+	Missense_Mutation	SNP	C	C	T	rs141270826		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123847863C>T	ENST00000531945.1	-	1	625	c.536G>A	c.(535-537)cGc>cAc	p.R179H		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTAGAGCAGGCGGAAGGTGAG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG	0,4404		0,0,2202	102	88	92		536	-9.8	0.1	11	dbSNP_134	92	1,8597	1.2+/-3.3	0,1,4298	no	missense	OR10S1	NM_001004474.1	29	0,1,6500	TT,TC,CC	NA	0.0116,0.0,0.0077	benign	179/332	123847863	1,13001	2202	4299	6501	SO:0001583	missense			BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248	219873	219873		GPCR / Class A : Olfactory receptors	14807	protein-coding gene	gene with protein product					NA		Standard	NM_001004474	NM_001004474	NA	Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.536G>A	11.37:g.123847863C>T	ENSP00000431914:p.Arg179His	NA	B9EH43|Q6IEV3|Q96R78	37	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	C	9.494	1.101556	0.20632	0.0	1.16E-4	ENSG00000196248	ENST00000531945	T	0.00169	8.63	4.89	-9.78	0.00496	GPCR, rhodopsin-like superfamily (1);	0.657762	0.12864	N	0.432873	T	0.00109	0.0003	N	0.13098	0.295	0.09310	N	0.999999	B	0.13594	0.008	B	0.10450	0.005	T	0.40627	-0.9553	10	0.30078	T	0.28	0.5192	13.0874	0.59149	0.0:0.3187:0.0747:0.6065	.	179	Q8NGN2	O10S1_HUMAN	H	179	ENSP00000431914:R179H	ENSP00000431914:R179H	R	-	2	0	OR10S1	123353073	0.000000	0.05858	0.114000	0.21550	0.846000	0.48090	-4.084000	0.00298	-2.039000	0.00917	-0.405000	0.06341	CGC	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387265.2		-	ENST00000531945.1	Missense_Mutation	SNP	11 : 123847863 - 123847863 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	380	59
NCOR2	9612	broad.mit.edu	37	12	124885186	124885186	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124885186G>A	ENST00000405201.1	-	15	1674	c.1674C>T	c.(1672-1674)aaC>aaT	p.N558N	NCOR2_ENST00000356219.3_Silent_p.N558N|NCOR2_ENST00000404621.1_Silent_p.N557N|NCOR2_ENST00000429285.2_Silent_p.N557N|NCOR2_ENST00000404121.2_Silent_p.N128N|NCOR2_ENST00000397355.1_Silent_p.N558N			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	558					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCTTCTCGTCGTTGTCCTCCC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	129	135			NA	NA	12		NA											NA				124885186		1951	4148	6099	SO:0001819	synonymous_variant			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498	9612	9612			7673	protein-coding gene	gene with protein product		600848	nuclear receptor co-repressor 2		NA	7566127, 8813722	Standard	NM_006312	NM_001077261	NA	Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1674C>T	12.37:g.124885186G>A		NA	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	37	CCDS41858.2																																																																																			NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318173.2		-	ENST00000405201.1	Silent	SNP	12 : 124885186 - 124885186 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	925	148
DNAJB7	150353	broad.mit.edu	37	22	41257476	41257476	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41257476C>T	ENST00000307221.4	-	1	654	c.523G>A	c.(523-525)Gct>Act	p.A175T	XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000414396.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	175					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						TTATCAAAAGCCAGGGAAGAG	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	90	89			NA	NA	22		NA											NA				41257476		2203	4300	6503	SO:0001583	missense			AF085232	CCDS14008.1	22q13.2	2011-09-02			ENSG00000172404	ENSG00000172404	150353	150353		Heat shock proteins / DNAJ (HSP40)	24986	protein-coding gene	gene with protein product		611336			NA	12477932	Standard	NM_145174	NM_145174	NA	Approved	HSC3	uc003azj.3	Q7Z6W7	OTTHUMG00000151202	ENST00000307221.4:c.523G>A	22.37:g.41257476C>T	ENSP00000307197:p.Ala175Thr	NA	Q2M220|Q5H904|Q8WYJ7	37	CCDS14008.1	.	.	.	.	.	.	.	.	.	.	C	8.475	0.858335	0.17178	.	.	ENSG00000172404	ENST00000307221	T	0.45668	0.89	4.7	-4.54	0.03452	.	1.106060	0.07028	N	0.827902	T	0.27765	0.0683	L	0.50333	1.59	0.23776	N	0.996874	B	0.33777	0.425	B	0.30572	0.117	T	0.20907	-1.0261	10	0.21540	T	0.41	.	3.4648	0.07545	0.5679:0.1768:0.1058:0.1495	.	175	Q7Z6W7	DNJB7_HUMAN	T	175	ENSP00000307197:A175T	ENSP00000307197:A175T	A	-	1	0	DNAJB7	39587422	0.844000	0.29557	0.002000	0.10522	0.129000	0.20672	1.122000	0.31295	-0.659000	0.05359	-0.282000	0.10007	GCT	DNAJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321765.1		-	ENST00000307221.4	Missense_Mutation	SNP	22 : 41257476 - 41257476 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	690	127
CNNM4	26504	broad.mit.edu	37	2	97427930	97427930	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97427930G>A	ENST00000377075.2	+	1	1292	c.1194G>A	c.(1192-1194)tcG>tcA	p.S398S		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	398	CBS 1.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		p.S398S(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						ACACCATGTCGGAGATAATGG	0.502		NA												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)											114	103	107			NA	NA	2		NA											NA				97427930		2203	4300	6503	SO:0001819	synonymous_variant			AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158	26504	26504			105	protein-coding gene	gene with protein product		607805	cyclin M4	ACDP4	NA	21393841, 24194943	Standard	NM_020184	XM_005263914	NA	Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1194G>A	2.37:g.97427930G>A		NA	Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	37	CCDS2024.2																																																																																			CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252954.1		+	ENST00000377075.2	Silent	SNP	2 : 97427930 - 97427930 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	522	91
BCO2	83875	broad.mit.edu	37	11	112084459	112084459	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:112084459G>A	ENST00000532593.1	+	8	998	c.892G>A	c.(892-894)Gca>Aca	p.A298T	BCO2_ENST00000361053.4_Missense_Mutation_p.A330T|BCO2_ENST00000531169.1_Missense_Mutation_p.A369T|BCO2_ENST00000438022.1_Missense_Mutation_p.A369T|BCO2_ENST00000393032.2_Missense_Mutation_p.A369T|BCO2_ENST00000357685.5_Missense_Mutation_p.A403T|BCO2_ENST00000526088.1_Missense_Mutation_p.A369T	NM_001256400.1	NP_001243329	Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	403					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						CCATAATTCAGCAGCCAAATC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(177;1916 2099 21049 29541 39946)							NA				0													199	200	200			NA	NA	11		NA											NA				112084459		2201	4297	6498	SO:0001583	missense			AJ290393	CCDS8358.2, CCDS41716.1, CCDS58181.1, CCDS58182.1, CCDS58183.1	11q23.1	2014-05-12	2008-04-15	2008-04-15	ENSG00000197580	ENSG00000197580	83875	83875	1.13.11.71		18503	protein-coding gene	gene with protein product	beta-carotene 9',10' oxygenase, carotenoid-9',10'-cleaving dioxygenase	611740	beta-carotene dioxygenase 2	BCDO2	NA	11278918, 15983114, 15949678	Standard	NM_001037290	NM_031938	NA	Approved	FLJ34464, B-DIOX-II	uc001pnf.3	Q9BYV7	OTTHUMG00000167155	ENST00000532593.1:c.892G>A	11.37:g.112084459G>A	ENSP00000431802:p.Ala298Thr	NA	B0YIX5|Q96JC8|Q96JY5	37	CCDS58183.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.872|1.872	-0.460077|-0.460077	0.04508|0.04508	.|.	.|.	ENSG00000197580|ENSG00000197580	ENST00000357685;ENST00000393032;ENST00000361053;ENST00000438022;ENST00000526088;ENST00000532593;ENST00000531169|ENST00000530677	D;D;D;D;D;D;D|D	0.94687|0.94862	-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49|-3.54	5.27|5.27	1.17|1.17	0.20885|0.20885	.|.	1.298920|.	0.04967|.	N|.	0.463152|.	D|D	0.86351|0.86351	0.5912|0.5912	N|N	0.12637|0.12637	0.245|0.245	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.33777|.	0.001;0.425;0.001;0.003|.	B;B;B;B|.	0.34418|.	0.007;0.182;0.016;0.026|.	T|T	0.76841|0.76841	-0.2810|-0.2810	10|7	0.19590|0.37606	T|T	0.45|0.19	-4.7509|-4.7509	5.0829|5.0829	0.14666|0.14666	0.3056:0.0:0.5596:0.1348|0.3056:0.0:0.5596:0.1348	.|.	380;330;403;230|.	C9JEZ9;E9PBI8;Q9BYV7;Q8NAZ7|.	.;.;BCDO2_HUMAN;.|.	T|N	403;369;330;369;369;298;369|170	ENSP00000350314:A403T;ENSP00000376752:A369T;ENSP00000354338:A330T;ENSP00000414843:A369T;ENSP00000436615:A369T;ENSP00000431802:A298T;ENSP00000437053:A369T|ENSP00000432045:S170N	ENSP00000350314:A403T|ENSP00000432045:S170N	A|S	+|+	1|2	0|0	BCO2|BCO2	111589669|111589669	0.003000|0.003000	0.15002|0.15002	0.042000|0.042000	0.18584|0.18584	0.094000|0.094000	0.18550|0.18550	0.006000|0.006000	0.13152|0.13152	-0.032000|-0.032000	0.13758|0.13758	-0.237000|-0.237000	0.12165|0.12165	GCA|AGC	BCO2-009	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392420.1		+	ENST00000532593.1	Missense_Mutation	SNP	11 : 112084459 - 112084459 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1233	184
PDCD11	22984	broad.mit.edu	37	10	105164918	105164918	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105164918C>A	ENST00000369797.3	+	5	636	c.542C>A	c.(541-543)gCt>gAt	p.A181D		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	181					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTGCTGAGTGCTGAGGCCCTG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	143	151			NA	NA	10		NA											NA				105164918		2203	4300	6503	SO:0001583	missense			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843	22984	22984			13408	protein-coding gene	gene with protein product		612333			NA	10229231	Standard		XM_005269647	NA	Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.542C>A	10.37:g.105164918C>A	ENSP00000358812:p.Ala181Asp	NA	Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	37	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001566	0.74818	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.17854	2.25	4.87	4.87	0.63330	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.239585	0.43579	D	0.000550	T	0.15176	0.0366	L	0.39898	1.24	0.52501	D	0.999958	B	0.34264	0.446	B	0.29524	0.103	T	0.06356	-1.0831	10	0.23302	T	0.38	-7.0362	17.6017	0.88027	0.0:1.0:0.0:0.0	.	181	Q14690	RRP5_HUMAN	D	181	ENSP00000358812:A181D	ENSP00000358812:A181D	A	+	2	0	PDCD11	105154908	0.934000	0.31675	0.999000	0.59377	0.986000	0.74619	7.337000	0.79256	2.272000	0.75746	0.462000	0.41574	GCT	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050151.1		+	ENST00000369797.3	Missense_Mutation	SNP	10 : 105164918 - 105164918 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	521	74
ZNF277	11179	broad.mit.edu	37	7	111936363	111936363	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111936363A>G	ENST00000361822.3	+	4	591	c.462A>G	c.(460-462)agA>agG	p.R154R	ZNF277_ENST00000450657.1_Silent_p.R154R	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	154						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						AGAAACAGAGACTGGTAAGAA	0.274		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	57	56			NA	NA	7		NA											NA				111936363		2199	4283	6482	SO:0001819	synonymous_variant			AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839	11179	11179			13070	protein-coding gene	gene with protein product		605465	zinc finger protein (C2H2 type) 277, zinc finger protein 277 pseudogene	ZNF277P	NA	10860669, 16213364, 16395595	Standard	NM_021994	NM_021994	NA	Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.462A>G	7.37:g.111936363A>G		NA	Q75MZ2|Q75MZ3|Q8WY14	37	CCDS5755.2																																																																																			ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316843.2		+	ENST00000361822.3	Silent	SNP	7 : 111936363 - 111936363 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	41
STAG1	10274	broad.mit.edu	37	3	136082224	136082224	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136082224A>G	ENST00000236698.5	-	26	3037	c.2771T>C	c.(2770-2772)aTt>aCt	p.I924T	STAG1_ENST00000434713.2_Intron|STAG1_ENST00000383202.2_Missense_Mutation_p.I924T|STAG1_ENST00000536929.1_Missense_Mutation_p.I508T			Q8WVM7	STAG1_HUMAN	stromal antigen 1	924					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						CAAACTGAGAATGAGAGTCTT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	149	151			NA	NA	3		NA											NA				136082224		2203	4300	6503	SO:0001583	missense			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007	10274	10274			11354	protein-coding gene	gene with protein product		604358			NA	9305759	Standard	NM_005862	XM_006713471	NA	Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000236698.5:c.2771T>C	3.37:g.136082224A>G	ENSP00000236698:p.Ile924Thr	NA	O00539	37		.	.	.	.	.	.	.	.	.	.	A	21.4	4.144665	0.77888	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000536929	T;T;T	0.33865	1.8;1.83;1.39	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.56645	0.1999	M	0.74881	2.28	0.80722	D	1	D;P	0.63046	0.992;0.786	P;B	0.60949	0.881;0.368	T	0.58482	-0.7629	10	0.42905	T	0.14	.	15.2501	0.73539	1.0:0.0:0.0:0.0	.	924;924	Q6P275;Q8WVM7	.;STAG1_HUMAN	T	924;924;508	ENSP00000372689:I924T;ENSP00000236698:I924T;ENSP00000445787:I508T	ENSP00000236698:I924T	I	-	2	0	STAG1	137564914	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.006000	0.58801	0.454000	0.30748	ATT	STAG1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000357403.1		-	ENST00000236698.5	Missense_Mutation	SNP	3 : 136082224 - 136082224 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	261	42
NUDT8	254552	broad.mit.edu	37	11	67397232	67397232	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67397232G>T	ENST00000301490.4	-	1	169	c.151C>A	c.(151-153)Ctg>Atg	p.L51M	NUDT8_ENST00000376693.2_Missense_Mutation_p.L51M	NM_181843.2	NP_862826.1	Q8WV74	NUDT8_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 8	51	Nudix hydrolase.					mitochondrion	hydrolase activity|metal ion binding			endometrium(1)|lung(1)|prostate(1)|skin(1)	4						CTGGACCGCAGCGTGTACAGC	0.761		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													7	7	7			NA	NA	11		NA											NA				67397232		1965	3874	5839	SO:0001583	missense			AI743601	CCDS8174.1, CCDS58151.1	11q13.2	2008-07-21			ENSG00000167799	ENSG00000167799	254552	254552		Nudix motif containing	8055	protein-coding gene	gene with protein product					NA	11415433	Standard	NM_181843	NM_181843	NA	Approved	FLJ41567	uc001omo.2	Q8WV74	OTTHUMG00000167292	ENST00000301490.4:c.151C>A	11.37:g.67397232G>T	ENSP00000301490:p.Leu51Met	NA	Q6ZW59	37	CCDS8174.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132531	0.56828	.	.	ENSG00000167799	ENST00000301490;ENST00000376693	T;T	0.07908	3.15;3.15	2.94	2.94	0.34122	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.108661	0.38837	U	0.001554	T	0.21761	0.0524	M	0.63208	1.945	0.39747	D	0.971835	D;D	0.76494	0.999;0.999	D;D	0.79108	0.992;0.987	T	0.01256	-1.1404	10	0.56958	D	0.05	-10.0279	9.5342	0.39213	0.0:0.0:1.0:0.0	.	51;51	Q8WV74;Q8WV74-2	NUDT8_HUMAN;.	M	51	ENSP00000301490:L51M;ENSP00000365883:L51M	ENSP00000301490:L51M	L	-	1	2	NUDT8	67153808	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	3.235000	0.51328	1.679000	0.50963	0.306000	0.20318	CTG	NUDT8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394035.1		-	ENST00000301490.4	Missense_Mutation	SNP	11 : 67397232 - 67397232 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	138	31
MYO1C	4641	broad.mit.edu	37	17	1381256	1381256	+	Missense_Mutation	SNP	C	C	T	rs147805425	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1381256C>T	ENST00000359786.5	-	13	1735	c.1411G>A	c.(1411-1413)Gtc>Atc	p.V471I	MYO1C_ENST00000438665.2_Missense_Mutation_p.V452I|MYO1C_ENST00000575158.1_Missense_Mutation_p.V436I|MYO1C_ENST00000545534.2_Missense_Mutation_p.V447I|MYO1C_ENST00000361007.2_Missense_Mutation_p.V436I	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	471	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AAATACTGGACGGGCTCCCAC	0.592		NA											C	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	0.0011	SNP								NA				0								C	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	108	106	107		1411,1354,1306	5.1	1	17	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	MYO1C	NM_001080779.1,NM_001080950.1,NM_033375.4	29,29,29	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	471/1064,452/1045,436/1029	1381256	1,13005	2203	4300	6503	SO:0001583	missense			X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879	4641	4641		Myosins / Myosin superfamily : Class I	7597	protein-coding gene	gene with protein product		606538			NA	9119401	Standard		NM_001080779	NA	Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000359786.5:c.1411G>A	17.37:g.1381256C>T	ENSP00000352834:p.Val471Ile	NA	Q4LE56|Q6NVJ7|Q86Y95	37	CCDS42226.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.92	2.082513	0.36758	0.0	1.16E-4	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534;ENST00000535421	D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0	5.07	5.07	0.68467	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	T	0.71821	0.3385	N	0.05441	-0.05	0.54753	D	0.999989	B;B;B	0.32620	0.18;0.378;0.149	B;B;B	0.31337	0.052;0.128;0.031	T	0.70392	-0.4884	10	0.18276	T	0.48	.	17.7747	0.88503	0.0:1.0:0.0:0.0	.	447;471;452	B7Z3E5;O00159;O00159-3	.;MYO1C_HUMAN;.	I	471;452;452;436;447;436	ENSP00000352834:V471I;ENSP00000412197:V452I;ENSP00000354283:V436I;ENSP00000437685:V447I	ENSP00000352834:V471I	V	-	1	0	MYO1C	1328006	0.999000	0.42202	1.000000	0.80357	0.872000	0.50106	4.021000	0.57196	2.507000	0.84556	0.563000	0.77884	GTC	MYO1C-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206685.4		-	ENST00000359786.5	Missense_Mutation	SNP	17 : 1381256 - 1381256 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	779	157
AP3B1	8546	broad.mit.edu	37	5	77311268	77311268	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:77311268C>A	ENST00000519295.1	-	26	3221	c.2950G>T	c.(2950-2952)Ggt>Tgt	p.G984C	AP3B1_ENST00000255194.6_Missense_Mutation_p.G1033C	NM_003664.3	NP_003655.3	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	1033					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GGGACTGCACCTACATTGGCT	0.388		NA							Hermansky-Pudlak syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	116	118			NA	NA	5		NA											NA				77311268		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842	8546	8546			566	protein-coding gene	gene with protein product		603401			NA	9182526, 9151686	Standard		NM_003664	NA	Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000519295.1:c.2950G>T	5.37:g.77311268C>A	ENSP00000430597:p.Gly984Cys	NA	O00580|Q7Z393|Q9HD66	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.97|16.97	3.268917|3.268917	0.59540|0.59540	.|.	.|.	ENSG00000132842|ENSG00000132842	ENST00000255194;ENST00000519295|ENST00000522901	T;T|.	0.56103|.	0.48;0.48|.	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	0.057286|.	0.64402|.	D|.	0.000002|.	T|.	0.73946|.	0.3652|.	M|M	0.64404|0.64404	1.975|1.975	0.58432|0.58432	D|D	0.999998|0.999998	P|.	0.51449|.	0.945|.	P|.	0.52823|.	0.71|.	T|.	0.72207|.	-0.4360|.	10|.	0.48119|.	T|.	0.1|.	-12.4687|-12.4687	19.0156|19.0156	0.92892|0.92892	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1033|.	O00203|.	AP3B1_HUMAN|.	C|Y	1033;984|132	ENSP00000255194:G1033C;ENSP00000430597:G984C|.	ENSP00000255194:G1033C|.	G|X	-|-	1|3	0|2	AP3B1|AP3B1	77347024|77347024	1.000000|1.000000	0.71417|0.71417	0.301000|0.301000	0.25044|0.25044	0.514000|0.514000	0.34195|0.34195	6.492000|6.492000	0.73654|0.73654	2.498000|2.498000	0.84270|0.84270	0.655000|0.655000	0.94253|0.94253	GGT|TAG	AP3B1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000369905.1		-	ENST00000519295.1	Missense_Mutation	SNP	5 : 77311268 - 77311268 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	631	114
BSG	682	broad.mit.edu	37	19	582313	582313	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:582313C>T	ENST00000333511.3	+	7	1147	c.1077C>T	c.(1075-1077)gaC>gaT	p.D359D	BSG_ENST00000545507.2_Silent_p.D150D|BSG_ENST00000353555.4_Silent_p.D243D|BSG_ENST00000346916.4_Silent_p.D179D	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	359	Poly-Asp.				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGATGACGACGCCGGCTCTG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	32	31			NA	NA	19		NA											NA				582313		2198	4294	6492	SO:0001819	synonymous_variant			L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270	682	682		CD molecules, Blood group antigens, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	1116	protein-coding gene	gene with protein product	Ok blood group	109480	basigin	OK	NA	8404035, 7812975	Standard	NM_001728	NM_198591	NA	Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.1077C>T	19.37:g.582313C>T		NA	Q7Z796|Q8IZL7	37	CCDS12033.1																																																																																			BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438630.2		+	ENST00000333511.3	Silent	SNP	19 : 582313 - 582313 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	484	113
MCOLN1	57192	broad.mit.edu	37	19	7595239	7595239	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7595239C>T	ENST00000264079.6	+	12	1552	c.1427C>T	c.(1426-1428)aCg>aTg	p.T476M		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	476					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATGTTTGTGACGTTCGCCGCC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													210	197	201			NA	NA	19		NA											NA				7595239		2203	4300	6503	SO:0001583	missense			AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674	57192	57192		Voltage-gated ion channels / Transient receptor potential cation channels	13356	protein-coding gene	gene with protein product		605248			NA	16382100	Standard	NM_020533	NM_020533	NA	Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.1427C>T	19.37:g.7595239C>T	ENSP00000264079:p.Thr476Met	NA	D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	37	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457621	0.84317	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	D	0.87809	-2.3	5.29	5.29	0.74685	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	D	0.93996	0.8077	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.94775	0.7948	10	0.87932	D	0	.	16.4162	0.83743	0.0:1.0:0.0:0.0	.	441;476	Q9GZU1-2;Q9GZU1	.;MCLN1_HUMAN	M	476;441	ENSP00000264079:T476M	ENSP00000264079:T476M	T	+	2	0	MCOLN1	7501239	1.000000	0.71417	0.987000	0.45799	0.840000	0.47671	7.487000	0.81328	2.478000	0.83669	0.563000	0.77884	ACG	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458974.2		+	ENST00000264079.6	Missense_Mutation	SNP	19 : 7595239 - 7595239 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1710	306
SEC24C	9632	broad.mit.edu	37	10	75520479	75520479	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75520479G>A	ENST00000339365.2	+	7	1021	c.859G>A	c.(859-861)Gga>Aga	p.G287R	SEC24C_ENST00000546025.1_Missense_Mutation_p.G145R|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Missense_Mutation_p.G145R|SEC24C_ENST00000345254.4_Missense_Mutation_p.G287R|SEC24C_ENST00000540668.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	287					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					AGGTTCCTTCGGACCAGCCCG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	53	61	58		859,859	5.8	1	10		58	0,8600		0,0,4300	no	missense,missense	SEC24C	NM_004922.3,NM_198597.2	125,125	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging	287/1095,287/1095	75520479	1,13005	2203	4300	6503	SO:0001583	missense			D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986	9632	9632			10705	protein-coding gene	gene with protein product		607185	SEC24 (S. cerevisiae) related gene family, member C, SEC24 family, member C (S. cerevisiae)		NA	10214955, 7584044	Standard		NM_004922	NA	Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.859G>A	10.37:g.75520479G>A	ENSP00000343405:p.Gly287Arg	NA	Q8WV25	37	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989466	0.93106	2.27E-4	0.0	ENSG00000176986	ENST00000546025;ENST00000345254;ENST00000339365;ENST00000411652	T;T;T	0.25250	1.81;1.81;1.81	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.55000	0.1893	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.995	P;D;P	0.78314	0.691;0.991;0.86	T	0.50583	-0.8811	10	0.42905	T	0.14	-6.0416	20.0736	0.97735	0.0:0.0:1.0:0.0	.	145;287;287	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	R	145;287;287;145	ENSP00000321845:G287R;ENSP00000343405:G287R;ENSP00000402913:G145R	ENSP00000343405:G287R	G	+	1	0	SEC24C	75190485	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.542000	0.98086	2.748000	0.94277	0.655000	0.94253	GGA	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048679.1		+	ENST00000339365.2	Missense_Mutation	SNP	10 : 75520479 - 75520479 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	522	110
COLGALT2	23127	broad.mit.edu	37	1	183944281	183944281	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183944281G>A	ENST00000361927.4	-	3	813	c.442C>T	c.(442-444)Cga>Tga	p.R148*	COLGALT2_ENST00000546159.1_Nonsense_Mutation_p.R148*	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2	NA											NA						GCTGCCTGTCGTAGTTTCATC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	107	109			NA	NA	1		NA											NA				183944281		2203	4300	6503	SO:0001587	stop_gained			AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756	23127	23127			16790	protein-coding gene	gene with protein product			chromosome 1 open reading frame 17, glycosyltransferase 25 domain containing 2	C1orf17, GLT25D2	NA	19075007	Standard	NM_015101	XM_005245008	NA	Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.442C>T	1.37:g.183944281G>A	ENSP00000354960:p.Arg148*	NA		37	CCDS1360.1	.	.	.	.	.	.	.	.	.	.	G	41	8.564328	0.98866	.	.	ENSG00000198756	ENST00000546159;ENST00000361927	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2816	14.8115	0.70000	0.0:0.0:0.8554:0.1446	.	.	.	.	X	148	.	ENSP00000354960:R148X	R	-	1	2	GLT25D2	182210904	0.986000	0.35501	0.987000	0.45799	0.996000	0.88848	1.479000	0.35453	2.583000	0.87209	0.650000	0.86243	CGA	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086128.1		-	ENST00000361927.4	Nonsense_Mutation	SNP	1 : 183944281 - 183944281 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	14
AGPAT4	56895	broad.mit.edu	37	6	161653106	161653106	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161653106C>T	ENST00000320285.4	-	2	352	c.140G>A	c.(139-141)cGg>cAg	p.R47Q	AGPAT4_ENST00000366908.5_Missense_Mutation_p.R47Q|AGPAT4_ENST00000366911.5_Missense_Mutation_p.R47Q|AGPAT4_ENST00000366906.5_Intron|AGPAT4_ENST00000366905.3_Missense_Mutation_p.R47Q|AGPAT4_ENST00000457520.2_Missense_Mutation_p.R47Q	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	47					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		GTTGATCTTCCGGAAGAGCTG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	104	108			NA	NA	6		NA											NA				161653106		2203	4300	6503	SO:0001583	missense			AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	56895	56895	2.3.1.51	1-acylglycerol-3-phosphate O-acyltransferases	20885	protein-coding gene	gene with protein product	lysophosphatidic acid acyltransferase, delta	614795	1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)		NA		Standard	NM_020133	XM_005267052	NA	Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.140G>A	6.37:g.161653106C>T	ENSP00000314036:p.Arg47Gln	NA	Q5TEF0	37	CCDS5280.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025019	0.75390	.	.	ENSG00000026652	ENST00000366911;ENST00000320285;ENST00000457520;ENST00000366908;ENST00000366905	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.7	5.7	0.88788	.	0.054761	0.64402	D	0.000002	T	0.64148	0.2572	M	0.80028	2.48	0.80722	D	1	D;P;D;P	0.89917	1.0;0.852;1.0;0.47	D;B;D;B	0.91635	0.999;0.054;0.997;0.063	T	0.66976	-0.5787	10	0.66056	D	0.02	-41.1725	19.8351	0.96655	0.0:1.0:0.0:0.0	.	47;47;47;47	B4DIY1;B4DHC0;B4DSF9;Q9NRZ5	.;.;.;PLCD_HUMAN	Q	47	ENSP00000355878:R47Q;ENSP00000314036:R47Q;ENSP00000407007:R47Q;ENSP00000355875:R47Q;ENSP00000355872:R47Q	ENSP00000314036:R47Q	R	-	2	0	AGPAT4	161573096	1.000000	0.71417	0.845000	0.33349	0.420000	0.31355	7.512000	0.81728	2.693000	0.91896	0.650000	0.86243	CGG	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042983.1		-	ENST00000320285.4	Missense_Mutation	SNP	6 : 161653106 - 161653106 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	295	57
C10orf32-ASMT	100528007	broad.mit.edu	37	10	104620108	104620108	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104620108G>A	ENST00000299353.6	+	2	176	c.161G>A	c.(160-162)cGa>cAa	p.R54Q	C10orf32_ENST00000369883.3_Missense_Mutation_p.R54Q|C10orf32_ENST00000339834.5_Missense_Mutation_p.R54Q					C10orf32-ASMT readthrough (NMD candidate)	NA											NA						CAGGCAGCTCGAAACATGGTA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	131	131			NA	NA	10		NA											NA				104620108		2203	4300	6503	SO:0001583	missense					10q24.32	2013-09-25			ENSG00000270316	ENSG00000270316	100528007	100528007			49183	other	readthrough					NA		Standard		NR_037644	NA	Approved				OTTHUMG00000184175	ENST00000299353.6:c.161G>A	10.37:g.104620108G>A	ENSP00000299353:p.Arg54Gln	NA		37	CCDS7542.2	.	.	.	.	.	.	.	.	.	.	G	34	5.411624	0.96072	.	.	ENSG00000166275	ENST00000339834;ENST00000369883	.	.	.	5.94	5.94	0.96194	.	0.000000	0.64402	U	0.000009	T	0.78207	0.4247	M	0.66939	2.045	0.51012	D	0.999904	D	0.71674	0.998	D	0.72982	0.979	T	0.77608	-0.2524	9	0.54805	T	0.06	-18.9638	18.1474	0.89662	0.0:0.0:1.0:0.0	.	53	Q96B45	CJ032_HUMAN	Q	54	.	ENSP00000299353:R54Q	R	+	2	0	C10orf32	104610098	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.820000	0.75267	2.816000	0.96949	0.561000	0.74099	CGA	C10orf32-ASMT-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000468206.2		+	ENST00000299353.6	Missense_Mutation	SNP	10 : 104620108 - 104620108 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	240	42
KIAA0907	22889	broad.mit.edu	37	1	155896514	155896514	+	Missense_Mutation	SNP	C	C	T	rs116935123	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155896514C>T	ENST00000368320.3	-	6	659	c.634G>A	c.(634-636)Gct>Act	p.A212T	KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368319.3_Missense_Mutation_p.A212T|KIAA0907_ENST00000368321.3_Missense_Mutation_p.A212T			Q7Z7F0	K0907_HUMAN	KIAA0907	212										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GACAACTGAGCGATGGGTGCT	0.438		NA											C	8	0.0037	NA	NA	2184	0.01	1	,	,	NA	3e-04	NA	NA	NA	0.0037	1	LOWCOV,EXOME	NA	NA	8e-04	SNP								NA				0								C	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	149	134	139		634	1.4	0.3	1	dbSNP_132	139	0,8600		0,0,4300	yes	missense	KIAA0907	NM_014949.2	58	0,2,6501	TT,TC,CC	NA	0.0,0.0454,0.0154	benign	212/615	155896514	2,13004	2203	4300	6503	SO:0001583	missense			BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680	22889	22889			29145	protein-coding gene	gene with protein product					NA	10048485	Standard	NM_014949	NM_014949	NA	Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368320.3:c.634G>A	1.37:g.155896514C>T	ENSP00000357303:p.Ala212Thr	NA	O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	37		8	0.003663003663003663	0	0.0	0	0.0	8	0.013986013986013986	0	0.0	C	11.01	1.512287	0.27036	4.54E-4	0.0	ENSG00000132680	ENST00000368321;ENST00000368320;ENST00000368319	.	.	.	5.64	1.36	0.22044	.	0.388899	0.30219	N	0.010137	T	0.04907	0.0132	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.29188	0.089;0.236;0.017;0.004	B;B;B;B	0.17979	0.016;0.02;0.002;0.002	T	0.43798	-0.9369	9	0.11485	T	0.65	-0.1296	9.1808	0.37141	0.0:0.5305:0.0:0.4695	.	212;212;212;212	Q7Z7F0-4;Q7Z7F0-3;Q7Z7F0-2;Q7Z7F0	.;.;.;K0907_HUMAN	T	212	.	ENSP00000357302:A212T	A	-	1	0	KIAA0907	154163138	0.000000	0.05858	0.344000	0.25628	0.853000	0.48598	-0.919000	0.04017	0.082000	0.17018	0.650000	0.86243	GCT	KIAA0907-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000039585.1		-	ENST00000368320.3	Missense_Mutation	SNP	1 : 155896514 - 155896514 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	559	126
SLC27A4	10999	broad.mit.edu	37	9	131110845	131110845	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131110845G>A	ENST00000300456.4	+	4	695	c.578G>A	c.(577-579)aGc>aAc	p.S193N	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	NA					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						GTCCATGCCAGCCTGGACCCC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(107;1554 2241 10946 12953)							NA				0													65	69	68			NA	NA	9		NA											NA				131110845		2203	4300	6503	SO:0001583	missense			AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114	10999	10999		Acyl-CoA synthetase family, Solute carriers	10998	protein-coding gene	gene with protein product		604194			NA	9878842	Standard		NM_005094	NA	Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.578G>A	9.37:g.131110845G>A	ENSP00000300456:p.Ser193Asn	NA	A8K2F7|O95186	37	CCDS6899.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.045492	0.36085	.	.	ENSG00000167114	ENST00000300456	T	0.42131	0.98	5.54	-0.0676	0.13759	AMP-dependent synthetase/ligase (1);	0.545020	0.21401	N	0.075159	T	0.26666	0.0652	L	0.47190	1.495	0.41841	D	0.990121	B	0.06786	0.001	B	0.10450	0.005	T	0.07673	-1.0760	10	0.27785	T	0.31	-22.4619	1.3239	0.02121	0.306:0.223:0.3486:0.1224	.	193	Q6P1M0	S27A4_HUMAN	N	193	ENSP00000300456:S193N	ENSP00000300456:S193N	S	+	2	0	SLC27A4	130150666	0.476000	0.25901	0.556000	0.28293	0.974000	0.67602	0.320000	0.19540	-0.005000	0.14395	-0.367000	0.07326	AGC	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054432.2		+	ENST00000300456.4	Missense_Mutation	SNP	9 : 131110845 - 131110845 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	531	103
NEK10	152110	broad.mit.edu	37	3	27326381	27326381	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:27326381C>A	ENST00000429845.2	-	22	2223	c.1861G>T	c.(1861-1863)Gaa>Taa	p.E621*	NEK10_ENST00000341435.5_Nonsense_Mutation_p.E621*|NEK10_ENST00000357467.2_Nonsense_Mutation_p.E18*			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	621	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGATGTTTTTCCTTCAAAGAA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	87	84			NA	NA	3		NA											NA				27326381		2198	4297	6495	SO:0001587	stop_gained			AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491	152110	152110			18592	protein-coding gene	gene with protein product			NIMA (never in mitosis gene a)- related kinase 10		NA	15289607	Standard	NM_152534	NM_199347	NA	Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.1861G>T	3.37:g.27326381C>A	ENSP00000395849:p.Glu621*	NA	A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	43|43|43	10.472178|10.472178|10.472178	0.99411|0.99411|0.99411	.|.|.	.|.|.	ENSG00000163491|ENSG00000163491|ENSG00000163491	ENST00000357467;ENST00000341435;ENST00000396636|ENST00000435584|ENST00000424275	.|.|.	.|.|.	.|.|.	5.69|5.69|5.69	5.69|5.69|5.69	0.88448|0.88448|0.88448	.|.|.	0.154036|.|.	0.53938|.|.	D|.|.	0.000041|.|.	.|T|T	.|0.66479|0.66479	.|0.2793|0.2793	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.68827|0.68827	.|-0.5306|-0.5306	.|3|3	0.45353|.|.	T|.|.	0.12|.|.	.|.|.	15.0168|15.0168|15.0168	0.71591|0.71591|0.71591	0.0:0.9298:0.0:0.0702|0.0:0.9298:0.0:0.0702|0.0:0.9298:0.0:0.0702	.|.|.	.|.|.	.|.|.	.|.|.	X|V|S	18;621;621|77|107	.|.|.	ENSP00000343847:E621X|.|.	E|G|R	-|-|-	1|2|3	0|0|2	NEK10|NEK10|NEK10	27301385|27301385|27301385	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.781000|0.781000|0.781000	0.44180|0.44180|0.44180	4.519000|4.519000|4.519000	0.60517|0.60517|0.60517	2.694000|2.694000|2.694000	0.91930|0.91930|0.91930	0.484000|0.484000|0.484000	0.47621|0.47621|0.47621	GAA|GGA|AGG	NEK10-016	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000438156.1		-	ENST00000429845.2	Nonsense_Mutation	SNP	3 : 27326381 - 27326381 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	436	89
KHNYN	23351	broad.mit.edu	37	14	24900668	24900668	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24900668G>T	ENST00000251343.5	+	3	340		c.e3-1		KHNYN_ENST00000556842.1_Splice_Site|KHNYN_ENST00000553935.1_Splice_Site			O15037	KHNYN_HUMAN	KH and NYN domain containing	NA										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						CTCCCAACCAGGAGTACCTGA	0.562		NA									OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	34	36			NA	NA	14		NA											NA				24900668		2202	4298	6500	SO:0001630	splice_region_variant			AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441	23351	23351			20166	protein-coding gene	gene with protein product			KIAA0323	KIAA0323	NA	17114934	Standard		NM_015299	NA	Approved		uc001wph.4	O15037		ENST00000251343.5:c.202-1G>T	14.37:g.24900668G>T		774	Q86TZ6|Q8IUQ2|Q96BA9	37	CCDS32058.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764467	0.31228	.	.	ENSG00000100441	ENST00000251343;ENST00000556842;ENST00000553935;ENST00000556510	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6797	0.77357	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KHNYN	23970508	1.000000	0.71417	0.992000	0.48379	0.325000	0.28411	7.234000	0.78134	2.383000	0.81215	0.563000	0.77884	.	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412928.1	Intron	+	ENST00000251343.5	Splice_Site	SNP	14 : 24900668 - 24900668 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	241	51
FBLN2	2199	broad.mit.edu	37	3	13660486	13660486	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:13660486G>A	ENST00000404922.3	+	7	2141	c.2022G>A	c.(2020-2022)ccG>ccA	p.P674P	FBLN2_ENST00000492059.1_Silent_p.P674P|FBLN2_ENST00000295760.7_Silent_p.P674P|FBLN2_ENST00000535798.1_Silent_p.P700P	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	674						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			ACACCATCCCGCTGCCACTGC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	30	28			NA	NA	3		NA											NA				13660486		1957	4157	6114	SO:0001819	synonymous_variant			X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520	2199	2199		Fibulins	3601	protein-coding gene	gene with protein product		135821			NA	7806230	Standard	NM_001004019	NM_001165035	NA	Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000404922.3:c.2022G>A	3.37:g.13660486G>A		NA	B7Z9C5|Q8IUI0|Q8IUI1	37	CCDS46761.1																																																																																			FBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340082.4		+	ENST00000404922.3	Silent	SNP	3 : 13660486 - 13660486 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	114	18
SPTAN1	6709	broad.mit.edu	37	9	131369983	131369983	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131369983G>A	ENST00000372739.3	+	32	4256		c.e32+1		SPTAN1_ENST00000358161.5_Splice_Site|SPTAN1_ENST00000372731.4_Splice_Site	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	NA					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GCGACACCAGGTGGGTGGACC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(120;833 1744 2558 35612 37579)							NA				0													117	110	112			NA	NA	9		NA											NA				131369983		2203	4300	6503	SO:0001630	splice_region_variant			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694	6709	6709		EF-hand domain containing	11273	protein-coding gene	gene with protein product	alpha-fodrin	182810			NA	3336352	Standard	NM_003127	NM_003127	NA	Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372739.3:c.4146+1G>A	9.37:g.131369983G>A		NA	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	37	CCDS48036.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382121	0.82792	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6771	0.95939	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPTAN1	130409804	1.000000	0.71417	0.998000	0.56505	0.839000	0.47603	9.186000	0.94906	2.732000	0.93576	0.655000	0.94253	.	SPTAN1-005	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054473.1	Intron	+	ENST00000372739.3	Splice_Site	SNP	9 : 131369983 - 131369983 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	657	27
PKN3	29941	broad.mit.edu	37	9	131467678	131467678	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131467678C>T	ENST00000291906.4	+	2	514	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	41					signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GGAGAACCTGCGGCGCGTGGC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	10	11			NA	NA	9		NA											NA				131467678		2165	4248	6413	SO:0001583	missense			AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447	29941	29941			17999	protein-coding gene	gene with protein product		610714			NA	10441506	Standard	NM_013355	NM_013355	NA	Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.121C>T	9.37:g.131467678C>T	ENSP00000291906:p.Arg41Trp	NA	Q9UM03	37	CCDS6908.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116549	0.77323	.	.	ENSG00000160447	ENST00000291906	T	0.19806	2.12	5.18	3.27	0.37495	.	.	.	.	.	T	0.44180	0.1281	M	0.76170	2.325	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.69307	0.95;0.963	T	0.42599	-0.9442	9	0.87932	D	0	.	13.0802	0.59109	0.293:0.707:0.0:0.0	.	41;41	Q05BU1;Q6P5Z2	.;PKN3_HUMAN	W	41	ENSP00000291906:R41W	ENSP00000291906:R41W	R	+	1	2	PKN3	130507499	1.000000	0.71417	0.996000	0.52242	0.895000	0.52256	1.467000	0.35321	0.531000	0.28639	0.655000	0.94253	CGG	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054487.1		+	ENST00000291906.4	Missense_Mutation	SNP	9 : 131467678 - 131467678 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	83	14
BCL3	602	broad.mit.edu	37	19	45260657	45260657	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45260657C>T	ENST00000164227.5	+	5	1042	c.798C>T	c.(796-798)gcC>gcT	p.A266A		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	266					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				AGCGCGGTGCCGACATCGACG	0.687		NA	T	IGH@	CLL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		19	19q13	602	B-cell CLL/lymphoma 3		L	0													22	17	19			NA	NA	19		NA											NA				45260657		2202	4297	6499	SO:0001819	synonymous_variant			M31732	CCDS12642.2	19q13.1-q13.2	2013-01-10			ENSG00000069399	ENSG00000069399	602	602		Ankyrin repeat domain containing	998	protein-coding gene	gene with protein product	B-cell lymphoma 3-encoded protein, B-cell leukemia/lymphoma 3, chronic lymphatic leukemia protein	109560		D19S37, BCL4	NA	1501714, 2180580	Standard	NM_005178	NM_005178	NA	Approved		uc010xxe.2	P20749	OTTHUMG00000151517	ENST00000164227.5:c.798C>T	19.37:g.45260657C>T		NA		37	CCDS12642.2	.	.	.	.	.	.	.	.	.	.	C	4.325	0.059655	0.08339	.	.	ENSG00000069399	ENST00000444487	.	.	.	4.71	-9.42	0.00610	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	.	.	.	-31.1182	2.5814	0.04819	0.1967:0.4096:0.1633:0.2304	.	.	.	.	X	150	.	.	R	+	1	2	BCL3	49952497	0.000000	0.05858	0.087000	0.20705	0.384000	0.30261	-11.547000	0.00003	-3.317000	0.00189	0.305000	0.20034	CGA	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322976.1		+	ENST00000164227.5	Silent	SNP	19 : 45260657 - 45260657 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	57	6
POU5F2	134187	broad.mit.edu	37	5	93076496	93076496	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:93076496G>A	ENST00000510627.4	-	1	847	c.774C>T	c.(772-774)ttC>ttT	p.F258F	FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000395965.3_Intron|POU5F2_ENST00000606183.1_5'UTR	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	258						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				NA		all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-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;0.0415)|all cancers(79;2.03e-19)		TGCGGTTATAGAACCAAACTC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	53	52			NA	NA	5		NA											NA				93076496		2012	4177	6189	SO:0001819	synonymous_variant				CCDS59489.1	5q15	2011-06-20				ENSG00000248483	134187	134187		Homeoboxes / POU class	26367	protein-coding gene	gene with protein product					NA	7908264	Standard	NM_153216	NM_153216	NA	Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.774C>T	5.37:g.93076496G>A		NA	Q15169|Q6MZL7|Q8N748	37	CCDS59489.1																																																																																			POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369873.5		-	ENST00000510627.4	Silent	SNP	5 : 93076496 - 93076496 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	108	19
SMC5	23137	broad.mit.edu	37	9	72965133	72965133	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72965133T>G	ENST00000361138.5	+	23	3051	c.2993T>G	c.(2992-2994)gTt>gGt	p.V998G	SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	998	Ala/Asp-rich (DA-box).				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GAAAGAAGTGTTTCTACCATG	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	111	111			NA	NA	9		NA											NA				72965133		2203	4300	6503	SO:0001583	missense			AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887	23137	23137		Structural maintenance of chromosomes proteins	20465	protein-coding gene	gene with protein product		609386	SMC5 structural maintenance of chromosomes 5-like 1 (yeast)	SMC5L1	NA	9628581	Standard	NM_015110	NM_015110	NA	Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.2993T>G	9.37:g.72965133T>G	ENSP00000354957:p.Val998Gly	NA	A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	37	CCDS6632.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.633552	0.87660	.	.	ENSG00000198887	ENST00000361138	T	0.69926	-0.44	6.07	6.07	0.98685	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.84456	0.5476	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86892	0.2049	10	0.72032	D	0.01	-20.4933	16.635	0.85050	0.0:0.0:0.0:1.0	.	998	Q8IY18	SMC5_HUMAN	G	998	ENSP00000354957:V998G	ENSP00000354957:V998G	V	+	2	0	SMC5	72154953	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.650000	0.83521	2.330000	0.79161	0.477000	0.44152	GTT	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052603.1		+	ENST00000361138.5	Missense_Mutation	SNP	9 : 72965133 - 72965133 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	388	17
HCN4	10021	broad.mit.edu	37	15	73621943	73621943	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73621943C>T	ENST00000261917.3	-	4	2554	c.1561G>A	c.(1561-1563)Gac>Aac	p.D521N		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	521					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CGGGAGGAGTCCAGGGACTGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	65	67			NA	NA	15		NA											NA				73621943		2198	4297	6495	SO:0001583	missense			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622	10021	10021		Voltage-gated ion channels / Cyclic nucleotide-regulated channels	16882	protein-coding gene	gene with protein product		605206			NA	10228147, 10430953, 16382102	Standard	NM_005477	NM_005477	NA	Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1561G>A	15.37:g.73621943C>T	ENSP00000261917:p.Asp521Asn	NA	Q9UMQ7	37	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114948	0.77210	.	.	ENSG00000138622	ENST00000261917	D	0.96554	-4.05	4.2	4.2	0.49525	Cyclic nucleotide-binding-like (1);	.	.	.	.	D	0.96787	0.8951	L	0.45698	1.435	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.95483	0.8562	9	0.21014	T	0.42	.	16.5316	0.84362	0.0:1.0:0.0:0.0	.	521	Q9Y3Q4	HCN4_HUMAN	N	521	ENSP00000261917:D521N	ENSP00000261917:D521N	D	-	1	0	HCN4	71408996	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.684000	0.84104	2.044000	0.60594	0.561000	0.74099	GAC	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268900.2		-	ENST00000261917.3	Missense_Mutation	SNP	15 : 73621943 - 73621943 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	447	92
ARL4D	379	broad.mit.edu	37	17	41477547	41477547	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41477547G>T	ENST00000320033.4	+	2	654	c.447G>T	c.(445-447)gaG>gaT	p.E149D		NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	149					protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		CTGAGGTGGAGAAGAGGCTGG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	16	16			NA	NA	17		NA											NA				41477547		2198	4295	6493	SO:0001583	missense			AB060692	CCDS11463.1	17q21.31	2014-05-09	2005-11-03	2005-11-03	ENSG00000175906	ENSG00000175906	379	379		ADP-ribosylation factors-like, ADP-ribosylation factors	656	protein-coding gene	gene with protein product		600732	ADP-ribosylation factor 4-like	ARF4L	NA	7590735	Standard	NM_001661	NM_001661	NA	Approved		uc002idt.3	P49703		ENST00000320033.4:c.447G>T	17.37:g.41477547G>T	ENSP00000322628:p.Glu149Asp	NA	B2RC59|D3DX43	37	CCDS11463.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971464	0.74246	.	.	ENSG00000175906	ENST00000320033	T	0.64085	-0.08	4.82	2.84	0.33178	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.74801	0.3764	M	0.78285	2.405	0.49299	D	0.999775	D	0.69078	0.997	D	0.72338	0.977	T	0.74244	-0.3728	10	0.72032	D	0.01	-7.8562	7.6798	0.28507	0.2572:0.0:0.7428:0.0	.	149	P49703	ARL4D_HUMAN	D	149	ENSP00000322628:E149D	ENSP00000322628:E149D	E	+	3	2	ARL4D	38833073	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.576000	0.67437	0.638000	0.30545	0.462000	0.41574	GAG	ARL4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453481.2		+	ENST00000320033.4	Missense_Mutation	SNP	17 : 41477547 - 41477547 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	104	25
LRP1B	53353	broad.mit.edu	37	2	141607868	141607868	+	Missense_Mutation	SNP	C	C	T	rs148341635	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141607868C>T	ENST00000389484.3	-	29	5713	c.4742G>A	c.(4741-4743)cGt>cAt	p.R1581H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1581					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GATTTCAGAACGTCTTGCATA	0.318		NA								TSP Lung(27;0.18)			C	10	0.0046	0.02	NA	2184	NA	0.9997	,	,	NA	3e-04	NA	NA	NA	0.0045	0.9734	LOWCOV,EXOME	NA	NA	3e-04	SNP	Colon(99;50 2074 2507 20106)							NA				0								C	HIS/ARG	8,4398	14.3+/-33.2	0,8,2195	83	75	78		4742	2.7	0.9	2	dbSNP_134	78	0,8600		0,0,4300	yes	missense	LRP1B	NM_018557.2	29	0,8,6495	TT,TC,CC	NA	0.0,0.1816,0.0615	probably-damaging	1581/4600	141607868	8,12998	2203	4300	6503	SO:0001583	missense			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702	53353	53353		Low density lipoprotein receptors	6693	protein-coding gene	gene with protein product	LRP-deleted in tumors	608766			NA	10766186	Standard	NM_018557	NM_018557	NA	Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4742G>A	2.37:g.141607868C>T	ENSP00000374135:p.Arg1581His	NA	Q8WY29|Q8WY30|Q8WY31	37	CCDS2182.1	10	0.004578754578754579	10	0.02032520325203252	0	0.0	0	0.0	0	0.0	C	14.46	2.542902	0.45280	0.001816	0.0	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;T	0.91631	-2.88;1.47	5.54	2.73	0.32206	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	U	0.000001	D	0.88388	0.6423	L	0.56199	1.76	0.42541	D	0.993077	D;B	0.69078	0.997;0.001	D;B	0.64595	0.927;0.001	D	0.88028	0.2773	10	0.62326	D	0.03	.	8.6756	0.34176	0.0:0.6986:0.0:0.3014	.	764;1581	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	H	1581;1519;726	ENSP00000374135:R1581H;ENSP00000413239:R726H	ENSP00000374135:R1581H	R	-	2	0	LRP1B	141324338	0.059000	0.20769	0.942000	0.38095	0.710000	0.40934	0.493000	0.22451	0.283000	0.22279	-0.657000	0.03884	CGT	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254736.2		-	ENST00000389484.3	Missense_Mutation	SNP	2 : 141607868 - 141607868 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	209	17
C6orf120	387263	broad.mit.edu	37	6	170103014	170103014	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170103014C>T	ENST00000332290.2	+	1	758	c.459C>T	c.(457-459)ggC>ggT	p.G153G	C6orf120_ENST00000439249.1_Silent_p.G172G	NM_001029863.1	NP_001025034.1	Q7Z4R8	CF120_HUMAN	chromosome 6 open reading frame 120	153						extracellular region				endometrium(1)|lung(2)	3		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)		CCGCCGACGGCGCAGATGCCG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	17	16			NA	NA	6		NA											NA				170103014		2174	4270	6444	SO:0001819	synonymous_variant			AF055030	CCDS34575.1	6q27	2012-06-21			ENSG00000185127	ENSG00000185127	387263	387263			21247	protein-coding gene	gene with protein product					NA	8619474, 9110174, 22340178	Standard	NM_001029863	NM_001029863	NA	Approved	bA160E12.4	uc003qxb.3	Q7Z4R8	OTTHUMG00000016057	ENST00000332290.2:c.459C>T	6.37:g.170103014C>T		NA	B4DHE9|E1P5C9	37	CCDS34575.1																																																																																			C6orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043214.1		+	ENST00000332290.2	Silent	SNP	6 : 170103014 - 170103014 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	162	26
RGS14	10636	broad.mit.edu	37	5	176795177	176795177	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176795177C>T	ENST00000408923.3	+	8	947	c.759C>T	c.(757-759)aaC>aaT	p.N253N		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	253					chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGACTGCAAACGCCGCCTTGC	0.647		NA											C	1	5e-04	0.002	NA	2184	NA	0.9989	,	,	NA	4e-04	NA	NA	NA	0.001	0.558	LOWCOV,EXOME	NA	NA	7e-04	SNP	NSCLC(47;353 1896 28036)							NA				0								C		1,4005		0,1,2002	54	58	57		759	0.8	0	5		57	0,8332		0,0,4166	no	coding-synonymous	RGS14	NM_006480.4		0,1,6168	TT,TC,CC	NA	0.0,0.025,0.0081		253/567	176795177	1,12337	2003	4166	6169	SO:0001819	synonymous_variant			AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220	10636	10636		Regulators of G-protein signaling	9996	protein-coding gene	gene with protein product		602513	regulator of G-protein signalling 14		NA		Standard	NM_006480	NM_006480	NA	Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.759C>T	5.37:g.176795177C>T		NA	O43565|Q506M1|Q6ZWA4|Q8TD62	37	CCDS43405.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	6.088	0.384607	0.11524	2.5E-4	0.0	ENSG00000169220	ENST00000511890	.	.	.	3.64	0.788	0.18601	.	.	.	.	.	T	0.20820	0.0501	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.22034	-1.0228	4	.	.	.	.	1.3967	0.02262	0.1395:0.3579:0.1371:0.3656	.	.	.	.	M	123	.	.	T	+	2	0	RGS14	176727783	0.000000	0.05858	0.001000	0.08648	0.053000	0.15095	0.014000	0.13333	-0.050000	0.13356	-0.424000	0.05967	ACG	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372676.1		+	ENST00000408923.3	Silent	SNP	5 : 176795177 - 176795177 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	107
KDM1A	23028	broad.mit.edu	37	1	23409708	23409708	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23409708A>C	ENST00000400181.4	+	21	2586	c.2482A>C	c.(2482-2484)Atc>Ctc	p.I828L	KDM1A_ENST00000542151.1_Missense_Mutation_p.I828L|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000356634.3_Missense_Mutation_p.I804L	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	804	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AGAACATACGATCCGTAACTA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	82	85			NA	NA	1		NA											NA				23409708		2203	4300	6503	SO:0001583	missense			AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487	23028	23028		Chromatin-modifying enzymes / K-demethylases	29079	protein-coding gene	gene with protein product		609132	amine oxidase (flavin containing) domain 2, lysine (K)-specific demethylase 1	AOF2, KDM1	NA	9628581, 12493763	Standard	NM_015013	NM_015013	NA	Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000400181.4:c.2482A>C	1.37:g.23409708A>C	ENSP00000383042:p.Ile828Leu	NA	A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	37	CCDS53278.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.731644	0.89390	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	D;D;D	0.92911	-3.13;-3.13;-3.13	5.67	5.67	0.87782	Amine oxidase (1);	0.000000	0.85682	D	0.000000	D	0.94509	0.8232	M	0.65975	2.015	0.80722	D	1	P;P	0.48016	0.802;0.904	P;P	0.58721	0.643;0.844	D	0.94022	0.7293	10	0.42905	T	0.14	-13.296	15.0953	0.72229	1.0:0.0:0.0:0.0	.	828;804	O60341-2;O60341	.;KDM1A_HUMAN	L	804;828;828	ENSP00000349049:I804L;ENSP00000383042:I828L;ENSP00000439072:I828L	ENSP00000349049:I804L	I	+	1	0	KDM1A	23282295	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	9.252000	0.95491	2.156000	0.67533	0.533000	0.62120	ATC	KDM1A-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000008881.2		+	ENST00000400181.4	Missense_Mutation	SNP	1 : 23409708 - 23409708 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	95
THRB	7068	broad.mit.edu	37	3	24231596	24231596	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:24231596C>A	ENST00000356447.4	-	4	536	c.252G>T	c.(250-252)caG>caT	p.Q84H	THRB_ENST00000396671.2_Missense_Mutation_p.Q84H|THRB_ENST00000416420.1_Missense_Mutation_p.Q84H	NM_000461.4|NM_001128177.1	NP_000452.2|NP_001121649.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	84	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	TTTGGAAGGTCTGGGCACTTG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(21;896 1043 15021 37958)							NA				0													201	192	195			NA	NA	3		NA											NA				24231596		2203	4300	6503	SO:0001583	missense				CCDS2641.1	3p24.2	2013-01-16	2011-05-19		ENSG00000151090	ENSG00000151090	7068	7068		Nuclear hormone receptors	11799	protein-coding gene	gene with protein product	avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, oncogene ERBA2, generalized resistance to thyroid hormone, thyroid hormone receptor beta 1	190160	thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2), pituitary resistance to thyroid hormone, thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)	ERBA2, PRTH	NA	1973914, 8040303	Standard	NM_000461	NM_000461	NA	Approved	THRB1, THRB2, NR1A2, THR1, ERBA-BETA, GRTH	uc003ccy.4	P10828	OTTHUMG00000130478	ENST00000356447.4:c.252G>T	3.37:g.24231596C>A	ENSP00000348827:p.Gln84His	NA	B3KU79|P37243|Q13986|Q3KP35|Q6WGL2|Q9UD41	37	CCDS2641.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.205171	0.58234	.	.	ENSG00000151090	ENST00000396671;ENST00000356447;ENST00000416420;ENST00000413780;ENST00000415021;ENST00000447875;ENST00000453729;ENST00000431815;ENST00000447414	D;D;D;D	0.96830	-3.27;-3.27;-3.27;-4.14	6.07	4.26	0.50523	.	.	.	.	.	D	0.91395	0.7285	N	0.24115	0.695	0.24548	N	0.994032	P	0.41041	0.736	B	0.35550	0.205	D	0.83841	0.0257	9	0.46703	T	0.11	.	11.6123	0.51066	0.0:0.8081:0.1256:0.0663	.	84	P10828	THB_HUMAN	H	84;84;84;53;84;84;84;84;84	ENSP00000379904:Q84H;ENSP00000348827:Q84H;ENSP00000414444:Q84H;ENSP00000414100:Q53H	ENSP00000348827:Q84H	Q	-	3	2	THRB	24206600	0.993000	0.37304	1.000000	0.80357	0.979000	0.70002	1.411000	0.34702	0.866000	0.35629	0.655000	0.94253	CAG	THRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252877.3		-	ENST00000356447.4	Missense_Mutation	SNP	3 : 24231596 - 24231596 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	841	36
ITIH2	3698	broad.mit.edu	37	10	7776892	7776892	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7776892G>A	ENST00000379587.4	+	14	1797	c.1762G>A	c.(1762-1764)Gct>Act	p.A588T	ITIH2_ENST00000358415.4_Missense_Mutation_p.A599T			P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	599					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CAGAAGCCTGGCTCCTACAGC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	101	101			NA	NA	10		NA											NA				7776892		2203	4300	6503	SO:0001583	missense			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655	3698	3698			6167	protein-coding gene	gene with protein product		146640	inter-alpha (globulin) inhibitor, H2 polypeptide		NA	1385302, 10100603	Standard	NM_002216	NM_002216	NA	Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000379587.4:c.1762G>A	10.37:g.7776892G>A	ENSP00000368906:p.Ala588Thr	NA	Q14659|Q15484|Q5T986	37		.	.	.	.	.	.	.	.	.	.	G	21.3	4.123567	0.77436	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.35421	1.31;1.31	5.56	5.56	0.83823	.	0.994257	0.08171	N	0.987029	T	0.65739	0.2720	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.58781	-0.7576	10	0.59425	D	0.04	-20.7694	19.541	0.95273	0.0:0.0:1.0:0.0	.	599	P19823	ITIH2_HUMAN	T	599;588	ENSP00000351190:A599T;ENSP00000368906:A588T	ENSP00000351190:A599T	A	+	1	0	ITIH2	7816898	1.000000	0.71417	1.000000	0.80357	0.286000	0.27126	9.411000	0.97342	2.609000	0.88269	0.543000	0.68304	GCT	ITIH2-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000046679.2		+	ENST00000379587.4	Missense_Mutation	SNP	10 : 7776892 - 7776892 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	818	35
DEF6	50619	broad.mit.edu	37	6	35285747	35285747	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35285747A>T	ENST00000316637.5	+	6	892	c.887A>T	c.(886-888)gAc>gTc	p.D296V	DEF6_ENST00000542066.1_Missense_Mutation_p.D41V|DEF6_ENST00000468102.1_3'UTR	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	296	PH.					cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						AGCGCCTCAGACACGCGCCAG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	41	42			NA	NA	6		NA											NA				35285747		2203	4300	6503	SO:0001583	missense			AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892	50619	50619		Pleckstrin homology (PH) domain containing	2760	protein-coding gene	gene with protein product	SWAP-70-like adaptor protein of T cells	610094	differentially expressed in FDCP (mouse homolog) 6		NA	19251698	Standard	NM_022047	NM_022047	NA	Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.887A>T	6.37:g.35285747A>T	ENSP00000319831:p.Asp296Val	NA	Q86VF4	37	CCDS4802.1	.	.	.	.	.	.	.	.	.	.	A	34	5.306036	0.95629	.	.	ENSG00000023892	ENST00000542066;ENST00000316637	T;T	0.32988	1.43;2.53	5.35	5.35	0.76521	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.55162	0.1903	M	0.90542	3.125	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.91635	0.999;0.987;0.987	T	0.66622	-0.5877	10	0.87932	D	0	-36.6858	13.9142	0.63887	1.0:0.0:0.0:0.0	.	41;296;296	F5H853;B2RBP7;Q9H4E7	.;.;DEFI6_HUMAN	V	41;296	ENSP00000442166:D41V;ENSP00000319831:D296V	ENSP00000319831:D296V	D	+	2	0	DEF6	35393725	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	9.339000	0.96797	2.035000	0.60131	0.377000	0.23210	GAC	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040276.1		+	ENST00000316637.5	Missense_Mutation	SNP	6 : 35285747 - 35285747 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	154	25
IRF2BP1	26145	broad.mit.edu	37	19	46389025	46389025	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46389025G>T	ENST00000302165.3	-	1	351	c.8C>A	c.(7-9)tCt>tAt	p.S3Y		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CGCCTGCACAGACGCCATGGC	0.731		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	11	11			NA	NA	19		NA											NA				46389025		2159	4240	6399	SO:0001583	missense			AY278022	CCDS12678.1	19q13.32	2008-02-05					26145	26145			21728	protein-coding gene	gene with protein product		615331			NA	12799427	Standard	NM_015649	NM_015649	NA	Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.8C>A	19.37:g.46389025G>T	ENSP00000307265:p.Ser3Tyr	NA	Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	37	CCDS12678.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558266	0.65538	.	.	ENSG00000170604	ENST00000302165	T	0.48836	0.8	3.41	1.19	0.21007	.	0.119053	0.36034	U	0.002838	T	0.42988	0.1227	N	0.22421	0.69	0.41761	D	0.989712	D	0.69078	0.997	P	0.59221	0.854	T	0.34675	-0.9819	10	0.62326	D	0.03	.	5.916	0.19055	0.2537:0.0:0.7463:0.0	.	3	Q8IU81	I2BP1_HUMAN	Y	3	ENSP00000307265:S3Y	ENSP00000307265:S3Y	S	-	2	0	IRF2BP1	51080865	1.000000	0.71417	0.292000	0.24919	0.980000	0.70556	6.545000	0.73883	0.260000	0.21731	0.462000	0.41574	TCT	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461683.1		-	ENST00000302165.3	Missense_Mutation	SNP	19 : 46389025 - 46389025 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	91	26
CATSPERB	79820	broad.mit.edu	37	14	92159477	92159477	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92159477C>A	ENST00000256343.3	-	9	980	c.824G>T	c.(823-825)aGc>aTc	p.S275I		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	275					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TACCGATAAGCTGTGGCGTGA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	92	93			NA	NA	14		NA											NA				92159477		2203	4299	6502	SO:0001583	missense			AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962	79820	79820			20500	protein-coding gene	gene with protein product		611169	chromosome 14 open reading frame 161, cation channel, sperm-associated, beta	C14orf161	NA	17478420	Standard	NM_024764	NM_024764	NA	Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.824G>T	14.37:g.92159477C>A	ENSP00000256343:p.Ser275Ile	NA	A0AV51	37	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	C	5.588	0.293217	0.10567	.	.	ENSG00000133962	ENST00000256343	T	0.44881	0.91	5.08	-10.1	0.00402	.	6.205340	0.00496	N	0.000145	T	0.11707	0.0285	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17018	-1.0383	10	0.26408	T	0.33	15.6753	2.4325	0.04475	0.232:0.0968:0.1437:0.5274	.	275	Q9H7T0	CTSRB_HUMAN	I	275	ENSP00000256343:S275I	ENSP00000256343:S275I	S	-	2	0	CATSPERB	91229230	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.323000	0.01117	-1.723000	0.01375	-1.251000	0.01509	AGC	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411769.1		-	ENST00000256343.3	Missense_Mutation	SNP	14 : 92159477 - 92159477 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	420	58
USH2A	7399	broad.mit.edu	37	1	216011418	216011418	+	Missense_Mutation	SNP	C	C	T	rs147267500		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216011418C>T	ENST00000307340.3	-	47	9672	c.9286G>A	c.(9286-9288)Gtg>Atg	p.V3096M	USH2A_ENST00000366943.2_Missense_Mutation_p.V3096M	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3096	Fibronectin type-III 17.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGCTTTTCACGCAGGCATAT	0.373		NA								HNSCC(13;0.011)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	MET/VAL	4,4402	8.1+/-20.4	0,4,2199	226	205	212		9286	5	1	1	dbSNP_134	212	0,8600		0,0,4300	yes	missense	USH2A	NM_206933.2	21	0,4,6499	TT,TC,CC	NA	0.0,0.0908,0.0308	probably-damaging	3096/5203	216011418	4,13002	2203	4300	6503	SO:0001583	missense			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781	7399	7399		Fibronectin type III domain containing	12601	protein-coding gene	gene with protein product	usherin	608400		USH2	NA	9624053, 10729113	Standard	NM_007123	NM_007123	NA	Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9286G>A	1.37:g.216011418C>T	ENSP00000305941:p.Val3096Met	NA	Q5VVM9|Q6S362|Q9NS27	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.005754	0.54254	9.08E-4	0.0	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.54071	0.59;0.59	5.01	5.01	0.66863	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.368167	0.19296	N	0.117756	T	0.67590	0.2909	M	0.70595	2.14	0.41726	D	0.989538	D	0.71674	0.998	P	0.56088	0.791	T	0.71069	-0.4699	10	0.52906	T	0.07	.	17.9566	0.89070	0.0:1.0:0.0:0.0	.	3096	O75445	USH2A_HUMAN	M	3096	ENSP00000305941:V3096M;ENSP00000355910:V3096M	ENSP00000305941:V3096M	V	-	1	0	USH2A	214078041	0.900000	0.30661	0.995000	0.50966	0.284000	0.27059	1.227000	0.32576	2.331000	0.79229	0.655000	0.94253	GTG	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128138.1		-	ENST00000307340.3	Missense_Mutation	SNP	1 : 216011418 - 216011418 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	732	98
LARP4	113251	broad.mit.edu	37	12	50848199	50848199	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50848199C>T	ENST00000398473.2	+	10	1232	c.1120C>T	c.(1120-1122)Cgt>Tgt	p.R374C	LARP4_ENST00000518561.1_Splice_Site_p.R304C|LARP4_ENST00000518444.1_Splice_Site_p.R373C|LARP4_ENST00000429001.3_Splice_Site_p.R380C|LARP4_ENST00000347328.5_Splice_Site_p.R303C|LARP4_ENST00000522085.1_Splice_Site_p.R374C|LARP4_ENST00000293618.8_Splice_Site_p.R374W	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	374							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						CCAAAAAAATCGGTAAGATAA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	68	71			NA	NA	12		NA											NA				50848199		1814	4070	5884	SO:0001630	splice_region_variant			AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813	113251	113251		La ribonucleoprotein domain containing	24320	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_052879	NM_052879	NA	Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.1121+1C>T	12.37:g.50848199C>T		NA	A8K6T1|Q5CZ97|Q6ZV14|Q96NF9	37	CCDS41782.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.69|15.69	2.908793|2.908793	0.52439|0.52439	.|.	.|.	ENSG00000161813|ENSG00000161813	ENST00000429001;ENST00000398473;ENST00000522085;ENST00000518444;ENST00000518561;ENST00000520064;ENST00000347328|ENST00000293618	T;T;T;T;T;T|T	0.36157|0.34667	1.27;1.27;1.27;1.27;1.27;1.33|1.35	3.98|3.98	3.98|3.98	0.46160|0.46160	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.51500|0.51500	0.1678|0.1678	L|L	0.40543|0.40543	1.245|1.245	0.40960|0.40960	D|D	0.984616|0.984616	B;B;D;B;B|D	0.89917|0.89917	0.354;0.027;1.0;0.146;0.202|1.0	B;B;D;B;B|D	0.80764|0.80764	0.139;0.021;0.994;0.064;0.038|0.994	T|T	0.58115|0.58115	-0.7693|-0.7693	10|10	0.39692|0.66056	T|D	0.17|0.02	.|.	16.9745|16.9745	0.86309|0.86309	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	275;373;303;374;380|374	Q71RC2-2;Q71RC2-3;G5E976;Q71RC2;Q71RC2-4|G3XAA8	.;.;.;LARP4_HUMAN;.|.	C|W	380;374;374;373;304;275;303|374	ENSP00000415464:R380C;ENSP00000381490:R374C;ENSP00000429781:R374C;ENSP00000429077:R373C;ENSP00000430851:R304C;ENSP00000340901:R303C|ENSP00000293618:R374W	ENSP00000340901:R303C|ENSP00000293618:R374W	R|R	+|+	1|1	0|2	LARP4|LARP4	49134466|49134466	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.805000|0.805000	0.45488|0.45488	5.474000|5.474000	0.66781|0.66781	2.174000|2.174000	0.68829|0.68829	0.485000|0.485000	0.47835|0.47835	CGT|CGG	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374981.1	Missense_Mutation	+	ENST00000398473.2	Splice_Site	SNP	12 : 50848199 - 50848199 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	229	27
KCNH5	27133	broad.mit.edu	37	14	63453898	63453898	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63453898C>T	ENST00000322893.7	-	5	709	c.441G>A	c.(439-441)acG>acA	p.T147T	KCNH5_ENST00000394964.2_Silent_p.T89T|KCNH5_ENST00000394968.1_Silent_p.T89T|KCNH5_ENST00000420622.2_Silent_p.T147T	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	147					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)		GGGCAAATTTCGTCCAACCTT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	82	83			NA	NA	14		NA											NA				63453898		2203	4299	6502	SO:0001819	synonymous_variant			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.441G>A	14.37:g.63453898C>T		NA		37	CCDS9756.1																																																																																			KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411747.1		-	ENST00000322893.7	Silent	SNP	14 : 63453898 - 63453898 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	70
VNN1	8876	broad.mit.edu	37	6	133004445	133004445	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:133004445C>T	ENST00000367928.4	-	7	1389	c.1376G>A	c.(1375-1377)cGc>cAc	p.R459H		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	459					acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity	p.R459H(1)		NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		ACTAAACAAGCGTCCGTCAGT	0.398		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)											99	91	94			NA	NA	6		NA											NA				133004445		2203	4300	6503	SO:0001583	missense			AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	8876	8876	3.5.1.92	Vanins	12705	protein-coding gene	gene with protein product		603570			NA	9790769	Standard		NM_004666	NA	Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.1376G>A	6.37:g.133004445C>T	ENSP00000356905:p.Arg459His	NA	A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	37	CCDS5159.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866004	0.51588	.	.	ENSG00000112299	ENST00000367928	D	0.93247	-3.19	5.86	4.99	0.66335	.	0.074910	0.64402	D	0.000020	D	0.88596	0.6479	M	0.85630	2.765	0.46396	D	0.999022	P	0.42993	0.797	B	0.34779	0.189	D	0.88288	0.2941	10	0.15952	T	0.53	-14.1688	14.725	0.69339	0.0:0.931:0.0:0.069	.	459	O95497	VNN1_HUMAN	H	459	ENSP00000356905:R459H	ENSP00000356905:R459H	R	-	2	0	VNN1	133046138	0.939000	0.31865	0.653000	0.29593	0.862000	0.49288	2.266000	0.43320	1.484000	0.48361	0.650000	0.86243	CGC	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042263.1		-	ENST00000367928.4	Missense_Mutation	SNP	6 : 133004445 - 133004445 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	212	50
DTX1	1840	broad.mit.edu	37	12	113496122	113496122	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113496122C>T	ENST00000257600.3	+	1	628	c.125C>T	c.(124-126)gCc>gTc	p.A42V		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	42	WWE 1.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CCCTACACGGCCACCGTGTGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	77	80			NA	NA	12		NA											NA				113496122		2203	4300	6503	SO:0001583	missense			AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144	1840	1840			3060	protein-coding gene	gene with protein product		602582	deltex homolog 1 (Drosophila)		NA	9590294, 12670957	Standard		NM_004416	NA	Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.125C>T	12.37:g.113496122C>T	ENSP00000257600:p.Ala42Val	NA	O60630|Q9BS04	37	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	C	32	5.191844	0.94923	.	.	ENSG00000135144	ENST00000257600	T	0.44083	0.93	3.9	3.9	0.45041	WWE domain (2);WWE domain, subgroup (1);	0.000000	0.64402	U	0.000001	T	0.48003	0.1476	M	0.64404	1.975	0.49299	D	0.999773	P	0.49447	0.924	P	0.47673	0.554	T	0.54470	-0.8289	10	0.51188	T	0.08	-6.7008	14.8783	0.70513	0.0:1.0:0.0:0.0	.	42	Q86Y01	DTX1_HUMAN	V	42	ENSP00000257600:A42V	ENSP00000257600:A42V	A	+	2	0	DTX1	111980505	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.403000	0.66338	2.021000	0.59480	0.555000	0.69702	GCC	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405045.2		+	ENST00000257600.3	Missense_Mutation	SNP	12 : 113496122 - 113496122 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	569	140
MORC3	23515	broad.mit.edu	37	21	37741529	37741529	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37741529G>A	ENST00000400485.1	+	15	1939	c.1863G>A	c.(1861-1863)caG>caA	p.Q621Q	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	621					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						CTTGTGGCCAGACTGGTTCAA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													223	221	222			NA	NA	21		NA											NA				37741529		2154	4253	6407	SO:0001819	synonymous_variant			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256	23515	23515			23572	protein-coding gene	gene with protein product		610078	zinc finger, CW-type with coiled-coil domain 3, zinc finger, CW type with coiled-coil domain 3	ZCWCC3	NA	14607086	Standard	NM_015358	NM_015358	NA	Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.1863G>A	21.37:g.37741529G>A		NA	A8KA92|Q9UEZ2	37	CCDS42924.1																																																																																			MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000194640.1		+	ENST00000400485.1	Silent	SNP	21 : 37741529 - 37741529 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	561	119
PRKDC	5591	broad.mit.edu	37	8	48691355	48691355	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:48691355G>A	ENST00000523565.1	-	0	11640				PRKDC_ENST00000314191.2_Missense_Mutation_p.A3861V|PRKDC_ENST00000338368.3_Missense_Mutation_p.A3830V			P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	NA					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGTACGATTAGCGCCCCTATG	0.318		NA						Non-homologous end-joining						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(79;1091 1253 12329 31680 40677)							NA				0													36	33	34			NA	NA	8		NA											NA				48691355		1820	4071	5891	SO:0001623	5_prime_UTR_variant				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	5591	5591	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1	NA	7638222	Standard	NM_001081640	NM_001081640	NA	Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000523565.1:c.-1868C>T	8.37:g.48691355G>A		NA	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	37		.	.	.	.	.	.	.	.	.	.	G	18.83	3.706628	0.68615	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.76186	4.23;-1.0	5.33	5.33	0.75918	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.105878	0.64402	D	0.000004	T	0.77438	0.4130	L	0.56396	1.775	0.80722	D	1	P;P	0.42010	0.639;0.768	B;P	0.46172	0.407;0.506	T	0.79137	-0.1927	10	0.54805	T	0.06	.	17.203	0.86911	0.0:0.0:1.0:0.0	.	3830;3862	E7EUY0;P78527	.;PRKDC_HUMAN	V	3861;3830	ENSP00000313420:A3861V;ENSP00000345182:A3830V	ENSP00000313420:A3861V	A	-	2	0	PRKDC	48853908	1.000000	0.71417	0.814000	0.32528	0.199000	0.23934	7.936000	0.87665	2.487000	0.83934	0.561000	0.74099	GCT	PRKDC-002	KNOWN	basic	processed_transcript	NA	protein_coding	OTTHUMT00000377896.1		-	ENST00000523565.1	5'UTR	SNP	8 : 48691355 - 48691355 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	89	10
LMO7	4008	broad.mit.edu	37	13	76395671	76395671	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:76395671T>C	ENST00000321797.8	+	12	2588	c.1867T>C	c.(1867-1869)Tta>Cta	p.L623L	LMO7_ENST00000526202.1_Silent_p.L473L|LMO7_ENST00000465261.2_Silent_p.L623L|LMO7_ENST00000341547.4_Silent_p.L574L|LMO7_ENST00000377534.3_Silent_p.L908L|LMO7_ENST00000357063.3_Silent_p.L908L			Q8WWI1	LMO7_HUMAN	LIM domain 7	908						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TACAGTCAGGTTAACATCTGT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	67	68			NA	NA	13		NA											NA				76395671		2203	4300	6503	SO:0001819	synonymous_variant			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153	4008	4008			6646	protein-coding gene	gene with protein product	F-box only protein 20	604362	LIM domain only 7	FBXO20	NA	9826547, 10531035	Standard	NM_005358	NM_005358	NA	Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.1867T>C	13.37:g.76395671T>C		NA	O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	37		.	.	.	.	.	.	.	.	.	.	T	11.22	1.573555	0.28092	.	.	ENSG00000136153	ENST00000447038	.	.	.	5.91	3.44	0.39384	.	.	.	.	.	T	0.53498	0.1800	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45264	-0.9273	4	.	.	.	-11.9249	4.7432	0.13024	0.1283:0.2078:0.0:0.6639	.	.	.	.	A	531	.	.	V	+	2	0	LMO7	75293672	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.822000	0.39052	0.465000	0.27167	0.528000	0.53228	GTT	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000045301.3		+	ENST00000321797.8	Silent	SNP	13 : 76395671 - 76395671 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	357	17
C19orf12	83636	broad.mit.edu	37	19	30193830	30193830	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30193830G>A	ENST00000392278.2	-	3	374	c.248C>T	c.(247-249)cCg>cTg	p.P83L	C19orf12_ENST00000323670.9_Missense_Mutation_p.P72L|C19orf12_ENST00000392276.1_Missense_Mutation_p.P8L|C19orf12_ENST00000592153.1_Missense_Mutation_p.P72L|C19orf12_ENST00000392275.1_5'UTR	NM_001031726.3	NP_001026896.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	72						integral to membrane					NA	Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			CTGAGGAACCGGCTTAAACTG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	92	92			NA	NA	19		NA											NA				30193830		2203	4300	6503	SO:0001583	missense			AK057185	CCDS12418.2, CCDS42542.1, CCDS59373.1, CCDS74325.1	19q13.11	2013-07-24			ENSG00000131943	ENSG00000131943	83636	83636			25443	protein-coding gene	gene with protein product	neurodegeneration with brain iron accumulation 4	614297	spastic paraplegia 43 (autosomal recessive)	SPG43	NA	21981780, 23857908	Standard	NM_031448	NM_031448	NA	Approved	MGC10922, DKFZP762D096, NBIA4	uc002nsj.3	Q9NSK7	OTTHUMG00000149838	ENST00000392278.2:c.248C>T	19.37:g.30193830G>A	ENSP00000376103:p.Pro83Leu	NA	B3KQ16|Q0D2Q0|Q6P4C5|Q9BSL7	37	CCDS42542.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173517	0.57584	.	.	ENSG00000131943	ENST00000323670;ENST00000392276;ENST00000392275;ENST00000392278;ENST00000342680	D;D;D	0.82433	-1.61;-1.61;-1.61	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.91981	0.7460	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.958;0.995	D	0.93199	0.6590	10	0.87932	D	0	-11.7687	17.7183	0.88344	0.0:0.0:1.0:0.0	.	72;83	Q9NSK7;Q9NSK7-4	CS012_HUMAN;.	L	72;8;8;83;72	ENSP00000313332:P72L;ENSP00000376102:P8L;ENSP00000376103:P83L	ENSP00000313332:P72L	P	-	2	0	C19orf12	34885670	1.000000	0.71417	0.911000	0.35937	0.422000	0.31414	9.057000	0.93889	2.435000	0.82474	0.591000	0.81541	CCG	C19orf12-003	KNOWN	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313509.2		-	ENST00000392278.2	Missense_Mutation	SNP	19 : 30193830 - 30193830 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	841	133
CHMP2A	27243	broad.mit.edu	37	19	59065517	59065517	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59065517G>A	ENST00000600118.1	-	1	488	c.63C>T	c.(61-63)gcC>gcT	p.A21A	CHMP2A_ENST00000312547.2_Silent_p.A21A|CHMP2A_ENST00000601220.1_Silent_p.A21A			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	21					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CACGGTTCAGGGCCCTCTGGT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	120	120			NA	NA	19		NA											NA				59065517		2203	4300	6503	SO:0001819	synonymous_variant			AF042384	CCDS12986.1	19q13.43	2014-09-04	2011-09-21		ENSG00000130724	ENSG00000130724	27243	27243		Charged multivesicular body proteins	30216	protein-coding gene	gene with protein product	putative breast adenocarcinoma marker (32kD), VPS2 homolog A (S. cerevisiae)	610893	chromatin modifying protein 2A		NA	15173323, 11559748	Standard	NM_014453	XM_005258746	NA	Approved	BC-2, CHMP2, VPS2, VPS2A	uc002qtk.3	O43633	OTTHUMG00000183547	ENST00000600118.1:c.63C>T	19.37:g.59065517G>A		NA	B2R4W6|Q3ZTT0	37	CCDS12986.1																																																																																			CHMP2A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000467088.1		-	ENST00000600118.1	Silent	SNP	19 : 59065517 - 59065517 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	975	162
OR2K2	26248	broad.mit.edu	37	9	114089992	114089992	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114089992C>A	ENST00000302681.1	-	1	721	c.722G>T	c.(721-723)gGt>gTt	p.G241V	OR2K2_ENST00000374428.1_Missense_Mutation_p.G270V	NM_205859.1	NP_995581.1	Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						CAAATGGGCACCACAGGTAGA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	118	119			NA	NA	9		NA											NA				114089992		2203	4300	6503	SO:0001583	missense			X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133	26248	26248		GPCR / Class A : Olfactory receptors	8264	protein-coding gene	gene with protein product				OR2AR1P	NA	1370859, 17010214	Standard	NM_205859	NM_205859	NA	Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000302681.1:c.722G>T	9.37:g.114089992C>A	ENSP00000305055:p.Gly241Val	NA	Q2TA61|Q5VYK4|Q6IFI5	37	CCDS6778.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.501482	0.44455	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.35421	1.31;1.31	4.55	3.63	0.41609	GPCR, rhodopsin-like superfamily (1);	0.442645	0.16571	U	0.208623	T	0.37758	0.1015	L	0.35414	1.06	0.49582	D	0.999805	D	0.55172	0.97	P	0.51615	0.675	T	0.20505	-1.0273	10	0.66056	D	0.02	.	11.2428	0.48979	0.0:0.6415:0.3585:0.0	.	270	Q8NGT1	OR2K2_HUMAN	V	241;270	ENSP00000305055:G241V;ENSP00000363550:G270V	ENSP00000305055:G241V	G	-	2	0	OR2K2	113129813	0.000000	0.05858	0.998000	0.56505	0.930000	0.56654	-0.218000	0.09240	1.237000	0.43756	0.591000	0.81541	GGT	OR2K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053636.1		-	ENST00000302681.1	Missense_Mutation	SNP	9 : 114089992 - 114089992 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	397	71
TACC2	10579	broad.mit.edu	37	10	123842859	123842859	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123842859G>A	ENST00000369005.1	+	4	1184	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.A282T|TACC2_ENST00000453444.2_Missense_Mutation_p.A282T|TACC2_ENST00000515273.1_Missense_Mutation_p.A282T|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.A282T	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	282						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACAAGATCCAGCCCCAAGAGC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	66	62			NA	NA	10		NA											NA				123842859		2203	4300	6503	SO:0001583	missense			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162	10579	10579			11523	protein-coding gene	gene with protein product		605302			NA	14767476	Standard		XM_005269388	NA	Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.844G>A	10.37:g.123842859G>A	ENSP00000358001:p.Ala282Thr	NA	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	37	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.505395	0.64410	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.05319	3.57;3.49;3.46;3.57;3.49	5.57	2.68	0.31781	.	1.115670	0.07049	N	0.831536	T	0.04679	0.0127	N	0.17082	0.46	0.09310	N	1	B;B;B	0.27997	0.197;0.197;0.197	B;B;B	0.21708	0.036;0.036;0.036	T	0.43180	-0.9407	10	0.72032	D	0.01	-1.2979	5.5878	0.17283	0.1646:0.0:0.677:0.1584	.	282;282;282	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	T	282;282;282;282;282;272	ENSP00000358001:A282T;ENSP00000424467:A282T;ENSP00000427618:A282T;ENSP00000334280:A282T;ENSP00000395048:A282T	ENSP00000334280:A282T	A	+	1	0	TACC2	123832849	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.204000	0.17335	0.292000	0.22492	0.555000	0.69702	GCC	TACC2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090004.1		+	ENST00000369005.1	Missense_Mutation	SNP	10 : 123842859 - 123842859 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	824	123
FOXN4	121643	broad.mit.edu	37	12	109723184	109723184	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109723184C>T	ENST00000299162.5	-	8	930	c.826G>A	c.(826-828)Gac>Aac	p.D276N	FOXN4_ENST00000355216.1_Missense_Mutation_p.D96N	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	276					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue 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	p.D276N(1)|p.D96N(1)		large_intestine(5)|lung(9)|ovary(2)	16						TCCATCTTGTCGATGCGGGCC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	large_intestine(2)						C	ASN/ASP	0,4406		0,0,2203	82	65	71		826	3.8	1	12		71	1,8599	1.2+/-3.3	0,1,4299	no	missense	FOXN4	NM_213596.2	23	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign	276/518	109723184	1,13005	2203	4300	6503	SO:0001583	missense			AF425596	CCDS9126.2	12q24.12	2008-02-05			ENSG00000139445	ENSG00000139445	121643	121643		Forkhead boxes	21399	protein-coding gene	gene with protein product		609429			NA		Standard	XM_062735	NM_213596	NA	Approved		uc001toe.4	Q96NZ1	OTTHUMG00000152868	ENST00000299162.5:c.826G>A	12.37:g.109723184C>T	ENSP00000299162:p.Asp276Asn	NA	Q6ZMR4|Q96NZ0	37	CCDS9126.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.28|15.28	2.785985|2.785985	0.49997|0.49997	0.0|0.0	1.16E-4|1.16E-4	ENSG00000139445|ENSG00000139445	ENST00000355216;ENST00000299162|ENST00000266856	D;D|.	0.95412|.	-3.7;-3.7|.	4.71|4.71	3.81|3.81	0.43845|0.43845	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59945|0.59945	0.2231|0.2231	L|L	0.43598|0.43598	1.365|1.365	0.80722|0.80722	D|D	1|1	P;P|.	0.52692|.	0.955;0.955|.	P;P|.	0.51079|.	0.658;0.557|.	T|T	0.63207|0.63207	-0.6689|-0.6689	10|6	0.14252|0.87932	T|D	0.57|0	-10.5193|-10.5193	12.1006|12.1006	0.53780|0.53780	0.0:0.916:0.0:0.084|0.0:0.916:0.0:0.084	.|.	276;276|.	A6H901;Q96NZ1|.	.;FOXN4_HUMAN|.	N|Q	96;276|234	ENSP00000347354:D96N;ENSP00000299162:D276N|.	ENSP00000299162:D276N|ENSP00000266856:R234Q	D|R	-|-	1|2	0|0	FOXN4|FOXN4	108207567|108207567	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.891000|0.891000	0.51852|0.51852	7.783000|7.783000	0.85696|0.85696	1.109000|1.109000	0.41680|0.41680	0.555000|0.555000	0.69702|0.69702	GAC|CGA	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328306.1		-	ENST00000299162.5	Missense_Mutation	SNP	12 : 109723184 - 109723184 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	175	7
C2orf54	79919	broad.mit.edu	37	2	241829557	241829557	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241829557C>T	ENST00000307486.8	-	3	410	c.312G>A	c.(310-312)ctG>ctA	p.L104L	C2orf54_ENST00000402775.2_Silent_p.L85L|C2orf54_ENST00000388934.4_Silent_p.L253L	NM_001282921.1	NP_001269850.1	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	253										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		GCCTCGTGAGCAGGTAGTCAG	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	40	38			NA	NA	2		NA											NA				241829557		2068	4195	6263	SO:0001819	synonymous_variant			AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478	79919	79919			26216	protein-coding gene	gene with protein product					NA		Standard	NM_024861, NM_001085437	NM_001282921	NA	Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000307486.8:c.312G>A	2.37:g.241829557C>T		NA	B3KPP9|Q08AI9|Q53QU5|Q9H622	37																																																																																				C2orf54-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000324355.1		-	ENST00000307486.8	Silent	SNP	2 : 241829557 - 241829557 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	376	59
RAI1	10743	broad.mit.edu	37	17	17696546	17696546	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17696546C>T	ENST00000353383.1	+	3	753	c.284C>T	c.(283-285)cCg>cTg	p.P95L	RAI1_ENST00000261641.6_Missense_Mutation_p.P95L	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	95						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CAGGGGAGGCCGGCTTTCCCT	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	13	13			NA	NA	17		NA											NA				17696546		2196	4282	6478	SO:0001583	missense			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557	10743	10743			9834	protein-coding gene	gene with protein product		607642	Smith-Magenis syndrome chromosome region	SMCR	NA	10036180	Standard	NM_030665	NM_030665	NA	Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.284C>T	17.37:g.17696546C>T	ENSP00000323074:p.Pro95Leu	NA	Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	37	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	C	9.227	1.034783	0.19590	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.70045	-0.45;2.27;0.12	4.55	4.55	0.56014	.	0.292981	0.29602	N	0.011692	T	0.57562	0.2062	M	0.63843	1.955	0.41446	D	0.987957	P	0.39404	0.672	B	0.28553	0.091	T	0.66188	-0.5986	10	0.87932	D	0	.	10.6015	0.45369	0.0:0.9094:0.0:0.0906	.	95	Q7Z5J4	RAI1_HUMAN	L	95	ENSP00000323074:P95L;ENSP00000379120:P95L;ENSP00000261641:P95L	ENSP00000261641:P95L	P	+	2	0	RAI1	17637271	0.826000	0.29277	0.977000	0.42913	0.329000	0.28539	1.841000	0.39240	2.074000	0.62210	0.462000	0.41574	CCG	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131775.1		+	ENST00000353383.1	Missense_Mutation	SNP	17 : 17696546 - 17696546 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	173	28
IGSF10	285313	broad.mit.edu	37	3	151163109	151163109	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151163109C>T	ENST00000282466.3	-	4	4659	c.4660G>A	c.(4660-4662)Gca>Aca	p.A1554T		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1554					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTTGTTAGTGCTGGCATGGGA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													177	178	177			NA	NA	3		NA											NA				151163109		2203	4300	6503	SO:0001583	missense			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580	285313	285313		Immunoglobulin superfamily / I-set domain containing	26384	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_178822	NM_178822	NA	Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.4660G>A	3.37:g.151163109C>T	ENSP00000282466:p.Ala1554Thr	NA	Q86YJ9|Q8N772|Q8NA84	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	7.860	0.725953	0.15439	.	.	ENSG00000152580	ENST00000282466;ENST00000544042	T	0.68624	-0.34	5.72	1.66	0.24008	.	0.321356	0.21865	N	0.067969	T	0.44138	0.1279	L	0.36672	1.1	0.09310	N	1	B	0.25312	0.123	B	0.24006	0.05	T	0.16070	-1.0415	10	0.07990	T	0.79	.	1.8719	0.03210	0.166:0.4979:0.1608:0.1753	.	1554	Q6WRI0	IGS10_HUMAN	T	1554;181	ENSP00000282466:A1554T	ENSP00000282466:A1554T	A	-	1	0	IGSF10	152645799	0.000000	0.05858	0.001000	0.08648	0.166000	0.22503	-0.788000	0.04614	0.333000	0.23563	0.644000	0.83932	GCA	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357782.1		-	ENST00000282466.3	Missense_Mutation	SNP	3 : 151163109 - 151163109 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1000	168
USP4	7375	broad.mit.edu	37	3	49348051	49348051	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49348051A>G	ENST00000351842.4	-	7	822		c.e7+1		USP4_ENST00000488520.1_Splice_Site|USP4_ENST00000265560.4_Splice_Site	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	NA					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TCTCTCCTCTACCTGCAAAGC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	152	157			NA	NA	3		NA											NA				49348051		2203	4300	6503	SO:0001630	splice_region_variant			U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316	7375	7375		Ubiquitin-specific peptidases	12627	protein-coding gene	gene with protein product		603486	ubiquitin specific protease 4 (proto-oncogene)	UNP	NA	12838346, 9464533	Standard	NM_199443	NM_199443	NA	Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000351842.4:c.813+1T>C	3.37:g.49348051A>G		NA	A8K6Y0|O43452|O43453|Q08AK8	37	CCDS2794.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.869437	0.51588	.	.	ENSG00000114316	ENST00000351842;ENST00000265560;ENST00000431357	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3007	0.66346	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP4	49323055	1.000000	0.71417	0.992000	0.48379	0.384000	0.30261	9.100000	0.94213	2.059000	0.61396	0.402000	0.26972	.	USP4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346068.1	Intron	-	ENST00000351842.4	Splice_Site	SNP	3 : 49348051 - 49348051 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	373	74
SIPA1L3	23094	broad.mit.edu	37	19	38610224	38610224	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38610224C>T	ENST00000222345.6	+	9	3079	c.2570C>T	c.(2569-2571)aCa>aTa	p.T857I		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	857					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AAGGAAAAGACAAAAGCACGG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	65	65			NA	NA	19		NA											NA				38610224		2203	4300	6503	SO:0001583	missense			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738	23094	23094			23801	protein-coding gene	gene with protein product					NA		Standard	XM_032278	XM_005258671	NA	Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2570C>T	19.37:g.38610224C>T	ENSP00000222345:p.Thr857Ile	NA	Q2TV87	37	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.898448	0.33535	.	.	ENSG00000105738	ENST00000222345	T	0.46819	0.86	5.75	5.75	0.90469	.	0.236566	0.43747	D	0.000533	T	0.36193	0.0958	N	0.24115	0.695	0.38592	D	0.950444	B	0.28998	0.23	B	0.24394	0.053	T	0.16988	-1.0384	10	0.27082	T	0.32	-19.2917	18.7237	0.91705	0.0:1.0:0.0:0.0	.	857	O60292	SI1L3_HUMAN	I	857	ENSP00000222345:T857I	ENSP00000222345:T857I	T	+	2	0	SIPA1L3	43302064	0.031000	0.19500	0.987000	0.45799	0.937000	0.57800	1.188000	0.32102	2.725000	0.93324	0.655000	0.94253	ACA	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000156294.2		+	ENST00000222345.6	Missense_Mutation	SNP	19 : 38610224 - 38610224 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	336	58
CLSTN3	9746	broad.mit.edu	37	12	7288002	7288002	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7288002A>T	ENST00000537408.1	+	3	1037	c.499A>T	c.(499-501)Aca>Tca	p.T167S	CLSTN3_ENST00000266546.6_Missense_Mutation_p.T155S			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	155	Cadherin 2.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TGCGGCTGTGACAGAGGGGAA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													213	133	160			NA	NA	12		NA											NA				7288002		2203	4300	6503	SO:0001583	missense			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182	9746	9746		Cadherins / Cadherin-related	18371	protein-coding gene	gene with protein product	cadherin-related family member 14	611324			NA	12498782	Standard	NM_014718	NM_014718	NA	Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000537408.1:c.499A>T	12.37:g.7288002A>T	ENSP00000440679:p.Thr167Ser	NA	D3DUT6|O94831|Q2T9J5	37		.	.	.	.	.	.	.	.	.	.	A	15.07	2.724125	0.48728	.	.	ENSG00000139182	ENST00000266546;ENST00000545663;ENST00000535452;ENST00000534830;ENST00000539982;ENST00000537408	T;T;T;T;T;T	0.59083	0.29;0.29;0.91;1.27;1.27;0.29	5.01	3.87	0.44632	Cadherin (4);Cadherin-like (1);	0.050981	0.85682	D	0.000000	T	0.46678	0.1405	L	0.36672	1.1	0.40695	D	0.982434	B;P	0.38250	0.033;0.624	B;B	0.39465	0.015;0.3	T	0.36915	-0.9728	9	.	.	.	-19.1582	10.4463	0.44497	0.9235:0.0:0.0765:0.0	.	167;155	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	S	155;118;118;118;138;167	ENSP00000266546:T155S;ENSP00000442612:T118S;ENSP00000443468:T118S;ENSP00000443490:T118S;ENSP00000442801:T138S;ENSP00000440679:T167S	.	T	+	1	0	CLSTN3	7179269	1.000000	0.71417	0.916000	0.36221	0.607000	0.37147	3.918000	0.56432	0.947000	0.37659	0.374000	0.22700	ACA	CLSTN3-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000398561.1		+	ENST00000537408.1	Missense_Mutation	SNP	12 : 7288002 - 7288002 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	423	55
FBXO40	51725	broad.mit.edu	37	3	121341875	121341875	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121341875A>G	ENST00000338040.4	+	3	2013	c.1599A>G	c.(1597-1599)aaA>aaG	p.K533K		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	533					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AAAAGGCAAAAGTAATCTATA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	53	53			NA	NA	3		NA											NA				121341875		2203	4300	6503	SO:0001819	synonymous_variant			AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833	51725	51725		F-boxes /  other	29816	protein-coding gene	gene with protein product		609107			NA	10574462	Standard	NM_016298	NM_016298	NA	Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.1599A>G	3.37:g.121341875A>G		NA	B2RAX7|Q32M70|Q9ULM5	37	CCDS33835.1																																																																																			FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355158.1		+	ENST00000338040.4	Silent	SNP	3 : 121341875 - 121341875 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	301	55
SIGLEC1	6614	broad.mit.edu	37	20	3673586	3673586	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3673586C>A	ENST00000344754.4	-	14	3700	c.3701G>T	c.(3700-3702)aGg>aTg	p.R1234M	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R1234M	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1234	Ig-like C2-type 12.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						ACCCTCATCCCTGGGCTGTGG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	31	30			NA	NA	20		NA											NA				3673586		2202	4298	6500	SO:0001583	missense			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827	6614	6614		CD molecules, Sialic acid binding Ig-like lectins, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	11127	protein-coding gene	gene with protein product		600751	sialoadhesin	SN	NA	8530048	Standard	NM_023068	XM_006723610	NA	Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3701G>T	20.37:g.3673586C>A	ENSP00000341141:p.Arg1234Met	NA	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	37	CCDS13060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.05|12.05	1.821744|1.821744	0.32237|0.32237	.|.	.|.	ENSG00000088827|ENSG00000088827	ENST00000419548|ENST00000344754;ENST00000202578	.|T;T	.|0.12569	.|2.67;2.67	4.98|4.98	2.9|2.9	0.33743|0.33743	.|Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.|0.462417	.|0.18472	.|N	.|0.140194	T|T	0.10723|0.10723	0.0262|0.0262	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	.|P;P	.|0.45396	.|0.581;0.857	.|B;B	.|0.43123	.|0.262;0.409	T|T	0.13629|0.13629	-1.0502|-1.0502	5|10	.|0.62326	.|D	.|0.03	.|.	5.1697|5.1697	0.15103|0.15103	0.219:0.6755:0.0:0.1054|0.219:0.6755:0.0:0.1054	.|.	.|1234;1234	.|Q9BZZ2;Q9BZZ2-3	.|SN_HUMAN;.	H|M	47|1234	.|ENSP00000341141:R1234M;ENSP00000202578:R1234M	.|ENSP00000202578:R1234M	Q|R	-|-	3|2	2|0	SIGLEC1|SIGLEC1	3621586|3621586	0.000000|0.000000	0.05858|0.05858	0.485000|0.485000	0.27403|0.27403	0.827000|0.827000	0.46813|0.46813	-0.447000|-0.447000	0.06828|0.06828	1.322000|1.322000	0.45245|0.45245	0.655000|0.655000	0.94253|0.94253	CAG|AGG	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077761.2		-	ENST00000344754.4	Missense_Mutation	SNP	20 : 3673586 - 3673586 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	364	81
C12orf5	57103	broad.mit.edu	37	12	4460469	4460469	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4460469C>T	ENST00000179259.4	+	5	374	c.307C>T	c.(307-309)Ctg>Ttg	p.L103L	C12orf5_ENST00000537251.1_3'UTR	NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	chromosome 12 open reading frame 5	103						intracellular	fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			GCTAAGTGAGCTGAGGGCCAT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(1;100 192 35375 49454 52532)							NA				0													106	99	101			NA	NA	12		NA											NA				4460469		2203	4300	6503	SO:0001819	synonymous_variant			AJ272206	CCDS8525.1	12p13.32	2014-05-29	2009-11-24	2009-11-24	ENSG00000078237	ENSG00000078237	57103	57103	3.1.3.46		1185	protein-coding gene	gene with protein product	TP53-induced glycolysis and apoptosis regulator	610775			NA	16140933, 16839880, 18945750, 19713938	Standard	NM_020375	NM_020375	NA	Approved	TIGAR	uc001qmp.3	Q9NQ88		ENST00000179259.4:c.307C>T	12.37:g.4460469C>T		NA	B2R840	37	CCDS8525.1																																																																																			C12orf5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398290.1		+	ENST00000179259.4	Silent	SNP	12 : 4460469 - 4460469 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	50
COPS8	10920	broad.mit.edu	37	2	237998518	237998518	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237998518T>C	ENST00000354371.2	+	4	865	c.212T>C	c.(211-213)cTt>cCt	p.L71P	COPS8_ENST00000409629.1_Missense_Mutation_p.L71P|COPS8_ENST00000392008.2_Missense_Mutation_p.L22P|COPS8_ENST00000409334.1_Missense_Mutation_p.L71P	NM_006710.4	NP_006701.1	Q99627	CSN8_HUMAN	COP9 signalosome subunit 8	71	PCI.				cullin deneddylation	cytoplasm|signalosome				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211)		Epithelial(121;7.41e-23)|OV - Ovarian serous cystadenocarcinoma(60;5.42e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000175)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0258)		AATTCTGAACTTGGGGGAATT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	65	64			NA	NA	2		NA											NA				237998518		2203	4300	6503	SO:0001583	missense				CCDS2517.1, CCDS42835.1	2q37.3	2013-03-14	2013-03-14		ENSG00000198612	ENSG00000198612	10920	10920			24335	protein-coding gene	gene with protein product			COP9 constitutive photomorphogenic homolog subunit 8 (Arabidopsis)		NA	7634324, 12732143	Standard	NM_006710	NM_006710	NA	Approved	COP9, CSN8, MGC1297, SGN8	uc002vwh.3	Q99627	OTTHUMG00000133297	ENST00000354371.2:c.212T>C	2.37:g.237998518T>C	ENSP00000346340:p.Leu71Pro	NA		37	CCDS2517.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.167928	0.78339	.	.	ENSG00000198612	ENST00000354371;ENST00000392008;ENST00000409334;ENST00000409629	.	.	.	5.37	5.37	0.77165	.	0.063904	0.64402	D	0.000009	T	0.78470	0.4288	M	0.78049	2.395	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.69479	0.964;0.964	T	0.81758	-0.0786	9	0.87932	D	0	.	14.5789	0.68271	0.0:0.0:0.0:1.0	.	71;71	B8ZZP3;Q99627	.;CSN8_HUMAN	P	71;22;71;71	.	ENSP00000346340:L71P	L	+	2	0	COPS8	237663257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.577000	0.82486	2.043000	0.60533	0.528000	0.53228	CTT	COPS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257082.3		+	ENST00000354371.2	Missense_Mutation	SNP	2 : 237998518 - 237998518 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	500	72
ZNF101	94039	broad.mit.edu	37	19	19789533	19789533	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19789533A>C	ENST00000592502.1	+	3	240		c.e3-1		ZNF101_ENST00000415784.2_Splice_Site|ZNF101_ENST00000444249.2_Splice_Site			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						TCTACATTTTAGGAATCCAAT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	42	42			NA	NA	19		NA											NA				19789533		2203	4300	6503	SO:0001630	splice_region_variant			AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896	94039	94039		Zinc fingers, C2H2-type, -	12881	protein-coding gene	gene with protein product		603983	zinc finger protein 101 (Y2)		NA	11441184	Standard	NM_033204	XM_005260165	NA	Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.131-1A>C	19.37:g.19789533A>C		NA		37	CCDS32971.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.720090	0.30503	.	.	ENSG00000181896	ENST00000318110;ENST00000415440	.	.	.	0.235	0.235	0.15431	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.3292	0.04231	0.5263:1.0E-4:1.0E-4:0.4736	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF101	19650533	0.412000	0.25392	0.638000	0.29380	0.638000	0.38207	1.917000	0.39996	0.263000	0.21812	0.260000	0.18958	.	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460559.1	Intron	+	ENST00000592502.1	Splice_Site	SNP	19 : 19789533 - 19789533 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	244	54
MICAL1	64780	broad.mit.edu	37	6	109775336	109775336	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109775336G>T	ENST00000358807.3	-	2	375	c.64C>A	c.(64-66)Ctg>Atg	p.L22M	MICAL1_ENST00000358577.3_Missense_Mutation_p.L22M|MICAL1_ENST00000368952.4_Missense_Mutation_p.L41M	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	22					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TCCTGGCACAGCTGGGCCTGC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	26	26			NA	NA	6		NA											NA				109775336		2203	4300	6503	SO:0001583	missense			AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596	64780	64780			20619	protein-coding gene	gene with protein product		607129	NEDD9 interacting protein with calponin homology and LIM domains	NICAL	NA	11827972	Standard	NM_022765	NM_022765	NA	Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.64C>A	6.37:g.109775336G>T	ENSP00000351664:p.Leu22Met	NA	E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	37	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648733	0.67358	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000431946	T;T;T;T	0.22336	1.96;3.28;1.96;1.96	5.17	3.38	0.38709	.	1.141450	0.06566	N	0.747538	T	0.09423	0.0232	L	0.36672	1.1	0.09310	N	0.999998	D;P;P	0.53619	0.961;0.672;0.543	P;B;B	0.46110	0.504;0.408;0.231	T	0.27606	-1.0069	10	0.72032	D	0.01	.	6.0299	0.19675	0.0871:0.0:0.5772:0.3358	.	41;22;22	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	M	22;41;22;22	ENSP00000351664:L22M;ENSP00000357948:L41M;ENSP00000351385:L22M;ENSP00000407075:L22M	ENSP00000351385:L22M	L	-	1	2	MICAL1	109882029	0.822000	0.29219	0.996000	0.52242	0.996000	0.88848	1.562000	0.36353	0.741000	0.32674	0.561000	0.74099	CTG	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041759.2		-	ENST00000358807.3	Missense_Mutation	SNP	6 : 109775336 - 109775336 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	168	36
SPTBN2	6712	broad.mit.edu	37	11	66481107	66481107	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66481107G>A	ENST00000533211.1	-	8	1098	c.767C>T	c.(766-768)cCc>cTc	p.P256L	SPTBN2_ENST00000529997.1_Missense_Mutation_p.P256L|SPTBN2_ENST00000309996.2_Missense_Mutation_p.P256L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	256	Actin-binding.|CH 2.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCCACCTTCGGGATCCAGCAG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	144	145			NA	NA	11		NA											NA				66481107		2200	4295	6495	SO:0001583	missense			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898	6712	6712		Pleckstrin homology (PH) domain containing	11276	protein-coding gene	gene with protein product		604985	spinocerebellar ataxia 5	SCA5	NA	9826670, 16429157	Standard	NM_006946	NM_006946	NA	Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.767C>T	11.37:g.66481107G>A	ENSP00000432568:p.Pro256Leu	NA	O14872|O14873	37	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040059	0.75732	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.64618	-0.11;-0.11;-0.11	4.86	4.86	0.63082	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.82416	0.5032	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86122	0.1569	10	0.87932	D	0	.	16.9451	0.86228	0.0:0.0:1.0:0.0	.	256	O15020	SPTN2_HUMAN	L	256	ENSP00000432568:P256L;ENSP00000311489:P256L;ENSP00000433593:P256L	ENSP00000311489:P256L	P	-	2	0	SPTBN2	66237683	1.000000	0.71417	0.958000	0.39756	0.342000	0.28953	9.595000	0.98260	2.521000	0.84997	0.557000	0.71058	CCC	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393892.2		-	ENST00000533211.1	Missense_Mutation	SNP	11 : 66481107 - 66481107 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	897	188
MMP2	4313	broad.mit.edu	37	16	55517011	55517011	+	Missense_Mutation	SNP	G	G	A	rs112710941		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55517011G>A	ENST00000570308.1	+	3	801	c.116G>A	c.(115-117)cGc>cAc	p.R39H	MMP2_ENST00000543485.1_Missense_Mutation_p.R39H|MMP2_ENST00000437642.2_Missense_Mutation_p.R65H|MMP2_ENST00000219070.4_Missense_Mutation_p.R115H			P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	115					angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	TTCTTCCCTCGCAAGCCCAAG	0.602		NA											G	1	5e-04	NA	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	EXOME	NA	NA	2e-04	SNP								NA				0													87	80	83			NA	NA	16		NA											NA				55517011		2198	4300	6498	SO:0001583	missense				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	NA	4313	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase), matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	CLG4, CLG4A	NA		Standard		NM_004530	NA	Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000570308.1:c.116G>A	16.37:g.55517011G>A	ENSP00000461421:p.Arg39His	NA	B2R6U1|Q9UCJ8	37		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	10.82	1.458337	0.26248	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.80123	-1.34;-1.34;-1.34	4.79	3.83	0.44106	Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.301229	0.38663	N	0.001605	T	0.72366	0.3451	L	0.37630	1.12	0.58432	D	0.999994	B;B	0.12013	0.005;0.0	B;B	0.04013	0.001;0.0	T	0.68804	-0.5312	10	0.51188	T	0.08	.	13.476	0.61308	0.077:0.0:0.923:0.0	.	65;115	E9PE45;P08253	.;MMP2_HUMAN	H	115;39;65	ENSP00000219070:R115H;ENSP00000444143:R39H;ENSP00000394237:R65H	ENSP00000219070:R115H	R	+	2	0	MMP2	54074512	1.000000	0.71417	0.993000	0.49108	0.051000	0.14879	6.718000	0.74713	1.145000	0.42336	-0.252000	0.11476	CGC	MMP2-008	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000440029.1		+	ENST00000570308.1	Missense_Mutation	SNP	16 : 55517011 - 55517011 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	438	89
EPHA8	2046	broad.mit.edu	37	1	22927925	22927925	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22927925C>T	ENST00000166244.3	+	16	2934	c.2862C>T	c.(2860-2862)ggC>ggT	p.G954G		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	954	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCGCTGCGGGCGGATACTCCT	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	44	42			NA	NA	1		NA											NA				22927925		2203	4297	6500	SO:0001819	synonymous_variant			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2046	2046	2.7.10.1	EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3391	protein-coding gene	gene with protein product		176945	EphA8	EEK	NA	1648701	Standard	NM_020526	NM_001006943	NA	Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2862C>T	1.37:g.22927925C>T		NA	Q9NUA9|Q9P269	37	CCDS225.1																																																																																			EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000008085.1		+	ENST00000166244.3	Silent	SNP	1 : 22927925 - 22927925 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	457	97
SCO1	6341	broad.mit.edu	37	17	10595270	10595270	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10595270T>C	ENST00000255390.5	-	4	634	c.574A>G	c.(574-576)Act>Gct	p.T192A	SCO1_ENST00000577427.1_Missense_Mutation_p.T161A	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	192					cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						TCTGGCAGAGTTGTAATGCTA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(128;591 1731 19711 31891 44645)							NA				0													113	108	110			NA	NA	17		NA											NA				10595270		2203	4300	6503	SO:0001583	missense			AF026852	CCDS11158.1	17p13.1	2012-10-15	2012-10-15		ENSG00000133028	ENSG00000133028	6341	6341		Mitochondrial respiratory chain complex assembly factors	10603	protein-coding gene	gene with protein product		603644	SCO (cytochrome oxidase deficient, yeast) homolog 1, SCO cytochrome oxidase deficient homolog 1 (yeast)	SCOD1	NA	9878253	Standard	NM_004589	NM_004589	NA	Approved		uc002gmr.4	O75880	OTTHUMG00000130364	ENST00000255390.5:c.574A>G	17.37:g.10595270T>C	ENSP00000255390:p.Thr192Ala	NA	B2RDM0	37	CCDS11158.1	.	.	.	.	.	.	.	.	.	.	T	4.276	0.050417	0.08243	.	.	ENSG00000133028	ENST00000255390;ENST00000396047	D	0.83914	-1.78	5.5	-1.17	0.09648	Thioredoxin-like fold (2);	0.482809	0.24419	N	0.038699	T	0.66396	0.2785	N	0.11255	0.115	0.32910	D	0.514421	B;B	0.22800	0.075;0.004	B;B	0.32393	0.145;0.031	T	0.56685	-0.7938	10	0.08179	T	0.78	-10.4468	15.0142	0.71570	0.7322:0.0:0.0:0.2677	.	161;192	A8MY34;O75880	.;SCO1_HUMAN	A	192;161	ENSP00000255390:T192A	ENSP00000255390:T192A	T	-	1	0	SCO1	10535995	0.977000	0.34250	0.463000	0.27130	0.777000	0.43975	1.403000	0.34612	-0.456000	0.07043	-0.438000	0.05819	ACT	SCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252729.2		-	ENST00000255390.5	Missense_Mutation	SNP	17 : 10595270 - 10595270 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	357	61
CCNO	10309	broad.mit.edu	37	5	54527253	54527253	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54527253G>T	ENST00000282572.4	-	3	1159	c.1003C>A	c.(1003-1005)Ctg>Atg	p.L335M		NM_021147.3	NP_066970.3	P22674	CCNO_HUMAN	cyclin O	335					cell cycle|cell division|depyrimidination|regulation of cyclin-dependent protein kinase activity	nucleoplasm	protein kinase binding|uracil DNA N-glycosylase activity			endometrium(1)|lung(3)|skin(1)	5		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)			TGAACGGGCAGCATGTGAGTC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	71	71			NA	NA	5		NA											NA				54527253		2203	4300	6503	SO:0001583	missense			M87499	CCDS34157.1	5q11.2	2010-11-15	2007-07-26	2007-07-26	ENSG00000152669	ENSG00000152669	10309	10309			18576	protein-coding gene	gene with protein product		607752	cyclin U	CCNU	NA		Standard	NM_021147	NR_125346	NA	Approved	UDG2, FLJ22422, UNG2	uc003jpw.3	P22674	OTTHUMG00000162598	ENST00000282572.4:c.1003C>A	5.37:g.54527253G>T	ENSP00000282572:p.Leu335Met	NA	A8K1W5|Q0P6J2|Q9H6B0|Q9UMD5	37	CCDS34157.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819454	0.50633	.	.	ENSG00000152669	ENST00000282572	T	0.26518	1.73	5.7	1.29	0.21616	.	0.215519	0.37095	N	0.002246	T	0.35451	0.0932	L	0.50333	1.59	0.32880	D	0.510423	D	0.56968	0.978	P	0.61940	0.896	T	0.44620	-0.9316	10	0.59425	D	0.04	.	7.2781	0.26296	0.2535:0.0:0.6241:0.1224	.	335	P22674	CCNO_HUMAN	M	335	ENSP00000282572:L335M	ENSP00000282572:L335M	L	-	1	2	CCNO	54563010	0.981000	0.34729	0.998000	0.56505	0.615000	0.37417	1.260000	0.32968	0.322000	0.23283	0.561000	0.74099	CTG	CCNO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369707.1		-	ENST00000282572.4	Missense_Mutation	SNP	5 : 54527253 - 54527253 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	391	60
ZNF287	57336	broad.mit.edu	37	17	16456289	16456289	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16456289G>A	ENST00000395824.1	-	6	1784	c.1167C>T	c.(1165-1167)acC>acT	p.T389T	ZNF287_ENST00000395825.3_Silent_p.T389T			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	382					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CTTTGGCATGGGTACTTTGGT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	156	160			NA	NA	17		NA											NA				16456289		2203	4300	6503	SO:0001819	synonymous_variant			AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040	57336	57336		Zinc fingers, C2H2-type, -, -, -	13502	protein-coding gene	gene with protein product					NA		Standard		NM_020653	NA	Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.1167C>T	17.37:g.16456289G>A		NA	Q6IAG1	37	CCDS11179.2																																																																																			ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130504.1		-	ENST00000395824.1	Silent	SNP	17 : 16456289 - 16456289 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	886	173
PAX5	5079	broad.mit.edu	37	9	37002672	37002672	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37002672C>T	ENST00000358127.4	-	5	651	c.577G>A	c.(577-579)Gac>Aac	p.D193N	PAX5_ENST00000414447.1_Intron|PAX5_ENST00000377847.2_Missense_Mutation_p.D193N|PAX5_ENST00000446742.1_Missense_Mutation_p.D127N|PAX5_ENST00000523145.1_Missense_Mutation_p.D85N|PAX5_ENST00000520154.1_Missense_Mutation_p.D193N|PAX5_ENST00000523241.1_Missense_Mutation_p.D193N|PAX5_ENST00000522003.1_Missense_Mutation_p.D85N|PAX5_ENST00000377853.2_Missense_Mutation_p.D193N|PAX5_ENST00000377852.2_Missense_Mutation_p.D193N|PAX5_ENST00000520281.1_Intron	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	193					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(40)|p.D193>GGTRAN(1)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		TTGTTGGTGTCGGCGCTGGGG	0.682		NA	T, Mis, D, F, S	IGH@, ETV6, PML, FOXP1, ZNF521, ELN	NHL, ALL, B-ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		9	9p13	5079	paired box gene 5 (B-cell lineage specific activator protein)		L	41	Unknown(40)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(41)											44	36	38			NA	NA	9		NA											NA				37002672		2201	4298	6499	SO:0001583	missense				CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092	5079	5079		Paired boxes, Homeoboxes / PRD class	8619	protein-coding gene	gene with protein product	B-cell lineage specific activator	167414	paired box gene 5 (B-cell lineage specific activator protein), paired box gene 5 (B-cell lineage specific activator)		NA	1516825, 8431641	Standard		NM_016734	NA	Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.577G>A	9.37:g.37002672C>T	ENSP00000350844:p.Asp193Asn	NA	A3QVP6|A3QVP7|A3QVP8|O75933	37	CCDS6607.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352389	0.61293	.	.	ENSG00000196092	ENST00000358127;ENST00000377849;ENST00000377853;ENST00000377852;ENST00000523241;ENST00000520154;ENST00000446742;ENST00000522003;ENST00000523145;ENST00000377847;ENST00000524340	D;D;D;D;D;D;D;D;D;T	0.97731	-4.02;-4.01;-4.01;-4.51;-4.5;-3.68;-1.78;-2.34;-4.5;1.27	5.15	4.24	0.50183	.	0.522583	0.21064	N	0.080764	D	0.90494	0.7022	N	0.11313	0.125	0.49582	D	0.999801	P;P;B;B;B;P;B	0.44309	0.832;0.825;0.001;0.091;0.185;0.725;0.327	B;B;B;B;B;B;B	0.32393	0.145;0.091;0.002;0.009;0.011;0.051;0.034	D	0.90866	0.4742	10	0.02654	T	1	.	15.2869	0.73835	0.1415:0.8585:0.0:0.0	.	127;193;193;193;193;193;193	C0KTF9;C0KTF6;E7ERW5;E7EQT0;Q6S730;Q6S731;Q02548	.;.;.;.;.;.;PAX5_HUMAN	N	193;85;193;193;193;193;127;85;85;193;1	ENSP00000350844:D193N;ENSP00000367084:D193N;ENSP00000367083:D193N;ENSP00000429637:D193N;ENSP00000429291:D193N;ENSP00000404687:D127N;ENSP00000429359:D85N;ENSP00000429197:D85N;ENSP00000367078:D193N;ENSP00000429404:D1N	ENSP00000350844:D193N	D	-	1	0	PAX5	36992672	1.000000	0.71417	0.993000	0.49108	0.187000	0.23431	5.203000	0.65174	1.274000	0.44362	-0.324000	0.08512	GAC	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052433.1		-	ENST00000358127.4	Missense_Mutation	SNP	9 : 37002672 - 37002672 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	99	11
CHPT1	56994	broad.mit.edu	37	12	102117041	102117041	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102117041G>A	ENST00000549872.1	+	6	1066	c.876G>A	c.(874-876)aaG>aaA	p.K292K	CHPT1_ENST00000229266.3_Silent_p.K292K			Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	292					platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TGTTTGAAAAGCATCCTTGTC	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	115	114			NA	NA	12		NA											NA				102117041		2203	4300	6503	SO:0001819	synonymous_variant				CCDS9086.1	12q	2010-07-08				ENSG00000111666	56994	56994	2.7.8.2		17852	protein-coding gene	gene with protein product	phosphatidylcholine synthesizing enzyme				NA	10893425	Standard	NM_020244	NM_020244	NA	Approved	CPT1	uc001tin.3	Q8WUD6		ENST00000549872.1:c.876G>A	12.37:g.102117041G>A		NA	B3KQM2|Q7Z7H0|Q7Z7H1|Q7Z7H2|Q8IWQ4|Q8IWQ5|Q8WYI4|Q9NRQ6|Q9NRQ7|Q9Y6M6	37																																																																																				CHPT1-002	PUTATIVE	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000409174.1		+	ENST00000549872.1	Silent	SNP	12 : 102117041 - 102117041 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	249	48
HMGXB4	10042	broad.mit.edu	37	22	35680005	35680005	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:35680005C>T	ENST00000216106.5	+	6	1394	c.1266C>T	c.(1264-1266)cgC>cgT	p.R422R	HMGXB4_ENST00000444518.2_Silent_p.R313R	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	422					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAGAGTATCGCGTGACCATTG	0.423		NA											C	1	5e-04	NA	0.0028	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9181	EXOME	NA	NA	5e-04	SNP								NA				0													188	157	168			NA	NA	22		NA											NA				35680005		2203	4300	6503	SO:0001819	synonymous_variant			AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281	10042	10042		High mobility group / Non-canonical	5003	protein-coding gene	gene with protein product		604702	high-mobility group protein 2-like 1	HMG2L1	NA	10329004, 10591208, 20511232	Standard	NM_005487	NM_001003681	NA	Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.1266C>T	22.37:g.35680005C>T		NA	O75672|O75673|Q9UMT5	37	CCDS33641.1																																																																																			HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318104.2		+	ENST00000216106.5	Silent	SNP	22 : 35680005 - 35680005 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	432	72
CTNNA2	1496	broad.mit.edu	37	2	80874927	80874927	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80874927G>A	ENST00000402739.4	+	18	2797	c.2792G>A	c.(2791-2793)cGa>cAa	p.R931Q	CTNNA2_ENST00000540488.1_Missense_Mutation_p.R838Q|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R883Q|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R883Q|CTNNA2_ENST00000343114.3_Missense_Mutation_p.R562Q|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R917Q|CTNNA2_ENST00000466387.1_Missense_Mutation_p.R883Q	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	931					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.G932A(1)|p.R883P(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CGAGTTCGACGAGGTTCTCAG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	skin(2)											130	129	129			NA	NA	2		NA											NA				80874927		1848	4090	5938	SO:0001583	missense				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032	1496	1496			2510	protein-coding gene	gene with protein product	cadherin-associated protein, related, cancer/testis antigen 114	114025			NA	8432524	Standard	NM_004389	NM_004389	NA	Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2792G>A	2.37:g.80874927G>A	ENSP00000384638:p.Arg931Gln	NA	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	37		.	.	.	.	.	.	.	.	.	.	G	35	5.439588	0.96168	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.51574	0.86;0.86;0.82;0.7;0.86;0.74;2.09	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000002	T	0.65637	0.2710	L	0.54323	1.7	0.58432	D	0.999994	D;D;D;D	0.89917	0.995;1.0;1.0;1.0	P;D;D;D	0.68353	0.794;0.957;0.956;0.956	T	0.59799	-0.7386	9	.	.	.	.	20.3658	0.98878	0.0:0.0:1.0:0.0	.	515;931;838;883	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	Q	883;883;917;931;883;838;562	ENSP00000418191:R883Q;ENSP00000419295:R883Q;ENSP00000355398:R917Q;ENSP00000384638:R931Q;ENSP00000444675:R883Q;ENSP00000441705:R838Q;ENSP00000341500:R562Q	.	R	+	2	0	CTNNA2	80728438	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.820000	0.97059	0.650000	0.86243	CGA	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000328511.4		+	ENST00000402739.4	Missense_Mutation	SNP	2 : 80874927 - 80874927 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1056	158
GPR158	57512	broad.mit.edu	37	10	25886972	25886972	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:25886972C>T	ENST00000376351.3	+	11	2776	c.2417C>T	c.(2416-2418)aCc>aTc	p.T806I	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	806						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						AAGGAGGAGACCCTGAAAAAC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	94	91			NA	NA	10		NA											NA				25886972		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.2417C>T	10.37:g.25886972C>T	ENSP00000365529:p.Thr806Ile	NA	Q6QR81|Q9ULT3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881938	0.33255	.	.	ENSG00000151025	ENST00000376351	T	0.61742	0.08	5.78	4.87	0.63330	.	0.403301	0.23426	N	0.048316	T	0.51839	0.1698	L	0.34521	1.04	0.19945	N	0.99994	B	0.19935	0.04	B	0.22880	0.042	T	0.42616	-0.9441	10	0.49607	T	0.09	.	19.1354	0.93426	0.1171:0.8828:0.0:0.0	.	806	Q5T848	GP158_HUMAN	I	806	ENSP00000365529:T806I	ENSP00000365529:T806I	T	+	2	0	GPR158	25926978	0.976000	0.34144	1.000000	0.80357	0.478000	0.33099	4.658000	0.61497	0.792000	0.33850	-0.824000	0.03097	ACC	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047248.2		+	ENST00000376351.3	Missense_Mutation	SNP	10 : 25886972 - 25886972 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	632	114
TSHZ2	128553	broad.mit.edu	37	20	51871469	51871469	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:51871469C>A	ENST00000371497.5	+	2	2359	c.1472C>A	c.(1471-1473)cCt>cAt	p.P491H	TSHZ2_ENST00000603338.2_Missense_Mutation_p.P488H|TSHZ2_ENST00000329613.6_Missense_Mutation_p.P488H	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	491					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTACAAAAACCTTTAGACCCT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	80	78			NA	NA	20		NA											NA				51871469		2203	4300	6503	SO:0001583	missense			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463	128553	128553		Teashirt zinc fingers, Homeoboxes / ZF class, Zinc fingers, C2H2-type	13010	protein-coding gene	gene with protein product		614118	chromosome 20 open reading frame 17, zinc finger protein 218, teashirt family zinc finger 2	C20orf17, ZNF218	NA	9671742	Standard	NM_173485	NM_173485	NA	Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1472C>A	20.37:g.51871469C>A	ENSP00000360552:p.Pro491His	NA	Q4VXM4|Q6N003|Q8N260	37	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.679273	0.29783	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.28895	1.59;1.59	5.95	5.95	0.96441	.	0.344127	0.34700	N	0.003744	T	0.48537	0.1505	L	0.54323	1.7	0.52501	D	0.999952	D	0.69078	0.997	P	0.56865	0.808	T	0.24799	-1.0150	10	0.46703	T	0.11	-8.973	20.3655	0.98876	0.0:1.0:0.0:0.0	.	491	Q9NRE2	TSH2_HUMAN	H	491;488;17	ENSP00000360552:P491H;ENSP00000333114:P488H	ENSP00000333114:P488H	P	+	2	0	TSHZ2	51304876	0.966000	0.33281	0.094000	0.20943	0.013000	0.08279	4.562000	0.60816	2.822000	0.97130	0.643000	0.83706	CCT	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080398.6		+	ENST00000371497.5	Missense_Mutation	SNP	20 : 51871469 - 51871469 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	534	24
RGS9	8787	broad.mit.edu	37	17	63204111	63204111	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:63204111A>C	ENST00000449996.3	+	16	1338	c.1266A>C	c.(1264-1266)gaA>gaC	p.E422D	RGS9_ENST00000262406.9_Missense_Mutation_p.E425D|RGS9_ENST00000443584.3_Missense_Mutation_p.E422D	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	425				E -> D (in Ref. 7; AAC25430).	intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						AACCTCAGGAAACCACCAAGA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	84	87			NA	NA	17		NA											NA				63204111		1866	4093	5959	SO:0001583	missense			AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370	8787	8787		Regulators of G-protein signaling	10004	protein-coding gene	gene with protein product	regulator of G protein signalling 9, regulator of G protein signalling 9L, regulator of G-protein signaling 9L	604067	regulator of G-protein signalling 9		NA	9765512	Standard	NM_003835	NM_003835	NA	Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000449996.3:c.1266A>C	17.37:g.63204111A>C	ENSP00000396329:p.Glu422Asp	NA	A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	37	CCDS45764.1	.	.	.	.	.	.	.	.	.	.	A	10.84	1.464595	0.26335	.	.	ENSG00000108370	ENST00000262406;ENST00000449996	T;T	0.34275	1.38;1.37	5.34	-1.13	0.09775	.	0.337709	0.34507	N	0.003904	T	0.31702	0.0805	L	0.55481	1.735	0.27741	N	0.944487	B;B;B	0.31548	0.258;0.22;0.328	B;B;B	0.33196	0.159;0.1;0.132	T	0.33369	-0.9871	10	0.52906	T	0.07	.	12.3179	0.54969	0.4618:0.0:0.5382:0.0	.	425;425;422	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	D	425;422	ENSP00000262406:E425D;ENSP00000396329:E422D	ENSP00000262406:E425D	E	+	3	2	RGS9	60634573	0.993000	0.37304	0.987000	0.45799	0.738000	0.42128	1.044000	0.30329	-0.097000	0.12307	-0.250000	0.11733	GAA	RGS9-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445884.1		+	ENST00000449996.3	Missense_Mutation	SNP	17 : 63204111 - 63204111 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	62
LINGO3	645191	broad.mit.edu	37	19	2290688	2290688	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2290688A>G	ENST00000585527.1	-	1	1335	c.1088T>C	c.(1087-1089)aTc>aCc	p.I363T	LINGO3_ENST00000404279.1_Missense_Mutation_p.I363T			P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	363	LRRCT.					integral to membrane				lung(1)|urinary_tract(1)	2						ACGCTGCACGATCCACAGCAG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	26	25			NA	NA	19		NA											NA				2290688		2068	4182	6250	SO:0001583	missense			AK091795	CCDS45905.1	19p13.3	2013-01-11	2007-02-01	2007-02-01		ENSG00000220008	645191	645191		Immunoglobulin superfamily / I-set domain containing	21206	protein-coding gene	gene with protein product		609792	leucine rich repeat neuronal 6B	LRRN6B	NA	14686891	Standard	NM_001101391	NM_001101391	NA	Approved	LERN2	uc010dsx.1	P0C6S8		ENST00000585527.1:c.1088T>C	19.37:g.2290688A>G	ENSP00000467753:p.Ile363Thr	NA		37	CCDS45905.1	.	.	.	.	.	.	.	.	.	.	a	15.84	2.950895	0.53186	.	.	ENSG00000220008	ENST00000404279	T	0.57107	0.42	4.3	4.3	0.51218	Cysteine-rich flanking region, C-terminal (1);	.	.	.	.	T	0.56645	0.1999	M	0.78801	2.425	0.58432	D	0.999999	B	0.20671	0.047	B	0.28385	0.089	T	0.61197	-0.7111	9	0.87932	D	0	.	12.5973	0.56476	1.0:0.0:0.0:0.0	.	363	P0C6S8	LIGO3_HUMAN	T	363	ENSP00000384979:I363T	ENSP00000384979:I363T	I	-	2	0	LINGO3	2241688	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.933000	0.92911	1.576000	0.49790	0.379000	0.24179	ATC	LINGO3-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451291.2		-	ENST00000585527.1	Missense_Mutation	SNP	19 : 2290688 - 2290688 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	141	6
TMEM255A	55026	broad.mit.edu	37	X	119438305	119438305	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119438305C>T	ENST00000371369.4	-	2	326	c.100G>A	c.(100-102)Gtg>Atg	p.V34M	TMEM255A_ENST00000309720.5_Missense_Mutation_p.V34M|TMEM255A_ENST00000440464.1_Missense_Mutation_p.V34M	NM_001104544.1	NP_001098014.1			transmembrane protein 255A	NA											NA						AGCAAAGTCACGGTGACATAG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													188	144	159			NA	NA	X		NA											NA				119438305		2203	4300	6503	SO:0001583	missense			BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355	55026	55026			26086	protein-coding gene	gene with protein product			family with sequence similarity 70, member A	FAM70A	NA	12477932	Standard	NM_017938	NM_017938	NA	Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000371369.4:c.100G>A	X.37:g.119438305C>T	ENSP00000360420:p.Val34Met	NA		37	CCDS43986.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225501	0.79576	.	.	ENSG00000125355	ENST00000309720;ENST00000371369;ENST00000440464;ENST00000519908	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.55	5.55	0.83447	.	0.183542	0.47093	D	0.000260	T	0.68760	0.3036	M	0.72894	2.215	0.58432	D	0.999996	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.76575	0.964;0.935;0.988	T	0.71481	-0.4580	10	0.62326	D	0.03	-8.2725	17.3935	0.87439	0.0:1.0:0.0:0.0	.	34;34;34	E9PAR3;B1APR4;Q5JRV8	.;.;FA70A_HUMAN	M	34	ENSP00000310110:V34M;ENSP00000360420:V34M;ENSP00000405781:V34M;ENSP00000428013:V34M	ENSP00000310110:V34M	V	-	1	0	FAM70A	119322333	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.261000	0.78400	2.321000	0.78463	0.600000	0.82982	GTG	TMEM255A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058092.1		-	ENST00000371369.4	Missense_Mutation	SNP	X : 119438305 - 119438305 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	392	134
KIAA1614	57710	broad.mit.edu	37	1	180905169	180905169	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180905169G>T	ENST00000367588.4	+	5	2179	c.2124G>T	c.(2122-2124)aaG>aaT	p.K708N	KIAA1614_ENST00000367587.1_Missense_Mutation_p.K329N	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	708										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AAGATGCCAAGCCTCCTGACC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	98	96			NA	NA	1		NA											NA				180905169		1997	4178	6175	SO:0001583	missense			AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835	57710	57710			29327	protein-coding gene	gene with protein product					NA		Standard	XM_046531	NM_020950	NA	Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.2124G>T	1.37:g.180905169G>T	ENSP00000356560:p.Lys708Asn	NA	Q5VZ45|Q9HCF8	37	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120431	0.37436	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.25085	2.4;1.82	4.1	1.11	0.20524	.	0.967631	0.08516	N	0.934229	T	0.15305	0.0369	L	0.27053	0.805	0.22745	N	0.998786	B	0.24258	0.1	B	0.17433	0.018	T	0.30179	-0.9987	9	0.39692	T	0.17	-4.2637	3.0132	0.06051	0.1042:0.1763:0.5377:0.1818	.	708	Q5VZ46	K1614_HUMAN	N	708;329	ENSP00000356560:K708N;ENSP00000356559:K329N	ENSP00000356559:K329N	K	+	3	2	KIAA1614	179171792	0.000000	0.05858	0.019000	0.16419	0.000000	0.00434	0.504000	0.22626	0.045000	0.15804	-1.086000	0.02197	AAG	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085151.1		+	ENST00000367588.4	Missense_Mutation	SNP	1 : 180905169 - 180905169 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	853	157
SRRM4	84530	broad.mit.edu	37	12	119568613	119568613	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119568613C>A	ENST00000267260.4	+	8	1133	c.745C>A	c.(745-747)Ctt>Att	p.L249I	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	249	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCTCCAGATGCTTGGCTACCT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	31	29			NA	NA	12		NA											NA				119568613		1957	4144	6101	SO:0001583	missense			AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767	84530	84530			29389	protein-coding gene	gene with protein product	neural-specific SR-related protein of 100 kDa	613103	KIAA1853	KIAA1853	NA	19737518	Standard	NM_194286	NM_194286	NA	Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.745C>A	12.37:g.119568613C>A	ENSP00000267260:p.Leu249Ile	NA	A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	37	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748443	0.49257	.	.	ENSG00000139767	ENST00000267260	T	0.23950	1.88	5.21	4.2	0.49525	.	0.579646	0.17230	N	0.181976	T	0.18299	0.0439	L	0.44542	1.39	0.24740	N	0.993043	B	0.29085	0.232	B	0.25759	0.063	T	0.09773	-1.0659	10	0.19590	T	0.45	-10.4697	7.4408	0.27181	0.0:0.7997:0.0:0.2003	.	249	A7MD48	SRRM4_HUMAN	I	249	ENSP00000267260:L249I	ENSP00000267260:L249I	L	+	1	0	SRRM4	118052996	1.000000	0.71417	0.998000	0.56505	0.367000	0.29736	2.194000	0.42668	2.445000	0.82738	0.448000	0.29417	CTT	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401640.2		+	ENST00000267260.4	Missense_Mutation	SNP	12 : 119568613 - 119568613 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	127	27
LGALS9	3965	broad.mit.edu	37	17	25970635	25970635	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25970635C>T	ENST00000395473.2	+	5	1997	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	LGALS9_ENST00000302228.5_Intron|LGALS9_ENST00000310394.5_Intron|LGALS9_ENST00000313648.6_Intron|LGALS9_ENST00000413914.2_Missense_Mutation_p.R120C	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	177					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		GCCCAGGGGGCGCAGACAAAA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)							NA				0								C	,CYS/ARG	0,4406		0,0,2203	25	24	24		,529	-1.2	0.8	17		24	2,8590	1.2+/-3.3	0,2,4294	no	intron,missense	LGALS9	NM_002308.3,NM_009587.2	,180	0,2,6497	TT,TC,CC	NA	0.0233,0.0,0.0154	,probably-damaging	,177/356	25970635	2,12996	2203	4296	6499	SO:0001583	missense			AB006782	CCDS11222.1, CCDS32592.1	17q11.2	2013-03-28	2008-07-25		ENSG00000168961	ENSG00000168961	3965	3965		Lectins, galactoside-binding	6570	protein-coding gene	gene with protein product	galectin 9	601879			NA	9045665	Standard	NM_009587	NM_009587	NA	Approved	LGALS9A	uc002gzp.3	O00182	OTTHUMG00000179831	ENST00000395473.2:c.529C>T	17.37:g.25970635C>T	ENSP00000378856:p.Arg177Cys	NA	A7VJG6|O14532|O75028|Q53FQ0|Q9NQ58	37	CCDS11222.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.242970	0.39697	0.0	2.33E-4	ENSG00000168961	ENST00000395473;ENST00000413914	T;T	0.15139	3.91;2.45	3.53	-1.16	0.09678	.	1.136550	0.06577	N	0.749601	T	0.15478	0.0373	L	0.27053	0.805	0.26432	N	0.975927	D;D	0.76494	0.999;0.998	P;P	0.51229	0.663;0.644	T	0.19712	-1.0297	10	0.62326	D	0.03	.	2.7707	0.05333	0.204:0.4368:0.0:0.3592	.	120;177	B4DWP7;O00182	.;LEG9_HUMAN	C	177;120	ENSP00000378856:R177C;ENSP00000393695:R120C	ENSP00000378856:R177C	R	+	1	0	LGALS9	22994762	0.002000	0.14202	0.773000	0.31616	0.631000	0.37964	-0.535000	0.06142	0.029000	0.15352	-0.201000	0.12746	CGC	LGALS9-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255583.1		+	ENST00000395473.2	Missense_Mutation	SNP	17 : 25970635 - 25970635 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	295	36
SOHLH1	402381	broad.mit.edu	37	9	138586218	138586218	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138586218C>T	ENST00000298466.5	-	7	1021	c.961G>A	c.(961-963)Ggg>Agg	p.G321R	SOHLH1_ENST00000425225.1_Intron	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	321					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		GCCCTGAACCCAGGGCCCCAC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	52	53			NA	NA	9		NA											NA				138586218		2203	4298	6501	SO:0001583	missense			BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643	402381	402381		Basic helix-loop-helix proteins	27845	protein-coding gene	gene with protein product	spermatogenesis associated 27	610224	chromosome 9 open reading frame 157	C9orf157	NA	12477932	Standard	NM_001012415	NM_001012415	NA	Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915	ENST00000298466.5:c.961G>A	9.37:g.138586218C>T	ENSP00000298466:p.Gly321Arg	NA	C9JG81|Q5EE14|Q5EGC2|Q8NEE3	37	CCDS35174.1	.	.	.	.	.	.	.	.	.	.	C	6.830	0.522289	0.13066	.	.	ENSG00000165643	ENST00000298466	T	0.42513	0.97	1.82	1.82	0.25136	.	.	.	.	.	T	0.15392	0.0371	N	0.08118	0	0.09310	N	0.999999	P	0.35923	0.528	B	0.25884	0.064	T	0.09952	-1.0651	9	0.08599	T	0.76	.	7.183	0.25784	0.0:1.0:0.0:0.0	.	321	Q5JUK2	SOLH1_HUMAN	R	321	ENSP00000298466:G321R	ENSP00000298466:G321R	G	-	1	0	SOHLH1	137726039	0.000000	0.05858	0.003000	0.11579	0.048000	0.14542	-1.355000	0.02612	1.331000	0.45412	0.442000	0.29010	GGG	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055018.2		-	ENST00000298466.5	Missense_Mutation	SNP	9 : 138586218 - 138586218 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	260	35
TTN	7273	broad.mit.edu	37	2	179589098	179589098	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179589098T>C	ENST00000589042.1	-	72	21228	c.21004A>G	c.(21004-21006)Atc>Gtc	p.I7002V	TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.I6685V|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.I5758V|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6685							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGGAAGAGATTTTGTTGTAG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	90	91			NA	NA	2		NA											NA				179589098		1896	4122	6018	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.21004A>G	2.37:g.179589098T>C	ENSP00000467141:p.Ile7002Val	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	T	11.39	1.625350	0.28889	.	.	ENSG00000155657	ENST00000342992	T	0.67865	-0.29	6.02	2.75	0.32379	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38719	0.1051	N	0.02665	-0.54	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14643	-1.0465	9	0.87932	D	0	.	7.861	0.29509	0.0:0.6856:0.0:0.3144	.	6685	Q8WZ42	TITIN_HUMAN	V	5758	ENSP00000343764:I5758V	ENSP00000343764:I5758V	I	-	1	0	TTN	179297343	0.965000	0.33210	1.000000	0.80357	0.993000	0.82548	0.739000	0.26173	0.192000	0.20272	-0.274000	0.10170	ATC	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179589098 - 179589098 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	62
AHNAK2	113146	broad.mit.edu	37	14	105416177	105416177	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105416177G>T	ENST00000557457.1	-	1	24				AHNAK2_ENST00000333244.5_Missense_Mutation_p.L1871I			Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	NA						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGAATGCAGAGGTCCGTGGTC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ILE/LEU	0,3884		0,0,1942	108	126	120		5611	-2	0	14		120	3,8199		0,3,4098	no	missense	AHNAK2	NM_138420.2	5	0,3,6040	TT,TG,GG	NA	0.0366,0.0,0.0248	benign	1871/5796	105416177	3,12083	1942	4101	6043	SO:0001627	intron_variant			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567	113146	113146			20125	protein-coding gene	gene with protein product		608570	chromosome 14 open reading frame 78	C14orf78	NA	15007166	Standard	NM_138420	NM_138420	NA	Approved		uc010axc.1	Q8IVF2		ENST00000557457.1:c.219+4040C>A	14.37:g.105416177G>T		NA	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	37		.	.	.	.	.	.	.	.	.	.	t	5.472	0.272207	0.10349	0.0	3.66E-4	ENSG00000185567	ENST00000333244	T	0.00753	5.74	3.92	-2.04	0.07343	.	.	.	.	.	T	0.01189	0.0039	M	0.64997	1.995	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.32851	-0.9891	9	0.32370	T	0.25	-7.9399	13.4204	0.60994	0.0:0.4768:0.4255:0.0977	.	1871	Q8IVF2	AHNK2_HUMAN	I	1871	ENSP00000353114:L1871I	ENSP00000353114:L1871I	L	-	1	0	AHNAK2	104487222	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-0.726000	0.04895	-0.255000	0.11280	CTC	AHNAK2-003	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000410299.1		-	ENST00000557457.1	Intron	SNP	14 : 105416177 - 105416177 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1146	253
FAM194A	0	broad.mit.edu	37	3	150403768	150403768	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150403768A>G	ENST00000295910.6	-	5	703	c.651T>C	c.(649-651)atT>atC	p.I217I	FAM194A_ENST00000491361.1_Silent_p.I71I	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN		217										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GCTCATATAAAATATTTAGTT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	116	113			NA	NA	3		NA											NA				150403768		2200	4300	6500	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000295910.6:c.651T>C	3.37:g.150403768A>G		NA	Q8N9Y8|Q8NCQ6|Q8NCZ6	37	CCDS3151.2																																																																																			FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257666.1		-	ENST00000295910.6	Silent	SNP	3 : 150403768 - 150403768 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	542	99
DLGAP4	22839	broad.mit.edu	37	20	35128033	35128033	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35128033G>A	ENST00000373907.2	+	8	2252	c.2053G>A	c.(2053-2055)Gct>Act	p.A685T	DLGAP4_ENST00000340491.4_Missense_Mutation_p.A146T|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000401952.2_Intron|DLGAP4_ENST00000373913.3_Intron|DLGAP4_ENST00000339266.5_Missense_Mutation_p.A685T			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	685					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCCCAGTCCCGCTACCAAATT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	72	73			NA	NA	20		NA											NA				35128033		2203	4300	6503	SO:0001583	missense			AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845	22839	22839			24476	protein-coding gene	gene with protein product					NA	9115257	Standard	NM_014902	XM_005260329	NA	Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.2053G>A	20.37:g.35128033G>A	ENSP00000363014:p.Ala685Thr	NA	E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	37		.	.	.	.	.	.	.	.	.	.	G	11.31	1.601401	0.28534	.	.	ENSG00000080845	ENST00000373907;ENST00000339266;ENST00000340491	T;T;T	0.17213	2.29;2.29;2.29	5.25	5.25	0.73442	.	0.304616	0.33753	N	0.004589	T	0.07548	0.0190	.	.	.	0.26244	N	0.978822	B	0.06786	0.001	B	0.08055	0.003	T	0.24012	-1.0172	9	0.02654	T	1	.	13.5615	0.61793	0.0:0.1559:0.8441:0.0	.	146	Q9Y2H0-3	.	T	685;685;146	ENSP00000363014:A685T;ENSP00000341633:A685T;ENSP00000345700:A146T	ENSP00000341633:A685T	A	+	1	0	DLGAP4	34561447	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.076000	0.41548	2.449000	0.82847	0.650000	0.86243	GCT	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000079025.2		+	ENST00000373907.2	Missense_Mutation	SNP	20 : 35128033 - 35128033 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	139	22
PDE4DIP	9659	broad.mit.edu	37	1	144854181	144854181	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144854181G>A	ENST00000530740.1	-	45	7276	c.7238C>T	c.(7237-7239)gCa>gTa	p.A2413V	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.A2464V|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.A2328V|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A2328V|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A2222V			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2328					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTTAGTCCTTGCCTTCTTTAA	0.463		NA	T	PDGFRB	MPD									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													238	188	205			NA	NA	1		NA											NA				144854181		2203	4298	6501	SO:0001583	missense			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104	9659	9659			15580	protein-coding gene	gene with protein product	myomegalin	608117	cardiomyopathy associated 2	CMYA2	NA	9455484, 11134006	Standard	NM_022359	NM_022359	NA	Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000530740.1:c.7238C>T	1.37:g.144854181G>A	ENSP00000435654:p.Ala2413Val	NA	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	37		.	.	.	.	.	.	.	.	.	.	.	21.1	4.094288	0.76870	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.06528	3.42;3.29;3.5;3.56;3.45	4.09	4.09	0.47781	.	.	.	.	.	T	0.17066	0.0410	M	0.83223	2.63	0.80722	D	1	D;D	0.67145	0.987;0.996	P;D	0.65140	0.791;0.932	T	0.01516	-1.1335	9	0.87932	D	0	.	14.3364	0.66592	0.0:0.0:1.0:0.0	.	2222;2328	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	V	2222;2328;2328;2413;2464	ENSP00000327209:A2222V;ENSP00000358360:A2328V;ENSP00000358363:A2328V;ENSP00000435654:A2413V;ENSP00000358366:A2464V	ENSP00000327209:A2222V	A	-	2	0	PDE4DIP	143565538	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	6.924000	0.75823	2.044000	0.60594	0.442000	0.29010	GCA	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000384663.2		-	ENST00000530740.1	Missense_Mutation	SNP	1 : 144854181 - 144854181 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	183	5
MBNL2	10150	broad.mit.edu	37	13	98043610	98043610	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:98043610A>G	ENST00000343600.4	+	7	1809	c.993A>G	c.(991-993)gaA>gaG	p.E331E	MBNL2_ENST00000345429.6_3'UTR|MBNL2_ENST00000445661.2_Silent_p.E176E|MBNL2_ENST00000397601.1_Silent_p.E331E|MBNL2_ENST00000376673.3_Silent_p.E343E	NM_207304.2	NP_997187.1	Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	343					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			ACGGAATGGAATGCCAAGAAT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	124	130			NA	NA	13		NA											NA				98043610		2203	4300	6503	SO:0001819	synonymous_variant			AF061261	CCDS9483.1, CCDS9484.1	13q31.1	2013-01-18	2012-02-23		ENSG00000139793	ENSG00000139793	10150	10150		Zinc fingers, CCCH-type domain containing	16746	protein-coding gene	gene with protein product		607327	muscleblind-like 2 (Drosophila)		NA	11929853	Standard	NM_144778	NM_207304	NA	Approved	MBLL, MBLL39	uc001vmz.4	Q5VZF2	OTTHUMG00000017239	ENST00000343600.4:c.993A>G	13.37:g.98043610A>G		NA	Q3SXY5|Q58F19|Q8NEV3|Q8TD82	37	CCDS9483.1																																																																																			MBNL2-201	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276558.1		+	ENST00000343600.4	Silent	SNP	13 : 98043610 - 98043610 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	374	50
MYH6	4624	broad.mit.edu	37	14	23855256	23855256	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23855256G>T	ENST00000356287.3	-	33	5073	c.5044C>A	c.(5044-5046)Ctg>Atg	p.L1682M	MYH6_ENST00000405093.3_Missense_Mutation_p.L1682M			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1682					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCCTGCAGCAGGTTGTTGCGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	61	65			NA	NA	14		NA											NA				23855256		2203	4300	6503	SO:0001583	missense			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616	4624	4624		Myosins / Myosin superfamily : Class II	7576	protein-coding gene	gene with protein product	cardiomyopathy, hypertrophic 1	160710	myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)		NA	2144212	Standard		NM_002471	NA	Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.5044C>A	14.37:g.23855256G>T	ENSP00000348634:p.Leu1682Met	NA	A2RTX1|Q13943|Q14906|Q14907	37	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	g	19.72	3.879769	0.72294	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.82803	-1.65;-1.65	4.2	4.2	0.49525	Myosin tail (1);	.	.	.	.	D	0.90010	0.6881	M	0.82823	2.61	0.47245	D	0.999362	D	0.61080	0.989	D	0.71656	0.974	D	0.90520	0.4488	9	0.59425	D	0.04	.	10.5855	0.45280	0.09:0.0:0.91:0.0	.	1682	P13533	MYH6_HUMAN	M	1682	ENSP00000386041:L1682M;ENSP00000348634:L1682M	ENSP00000348634:L1682M	L	-	1	2	MYH6	22925096	1.000000	0.71417	0.982000	0.44146	0.998000	0.95712	4.145000	0.58065	2.048000	0.60808	0.561000	0.74099	CTG	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071796.3		-	ENST00000356287.3	Missense_Mutation	SNP	14 : 23855256 - 23855256 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	348	14
C5orf42	65250	broad.mit.edu	37	5	37181020	37181020	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37181020C>T	ENST00000508244.1	-	26	5602	c.5509G>A	c.(5509-5511)Gca>Aca	p.A1837T	C5orf42_ENST00000274258.7_Missense_Mutation_p.A718T|C5orf42_ENST00000425232.2_Missense_Mutation_p.A1837T			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1837										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CCTGGAGTTGCTACTGCAACT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	68	70			NA	NA	5		NA											NA				37181020		2203	4300	6503	SO:0001583	missense				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603	65250	65250			25801	protein-coding gene	gene with protein product		614571			NA	22264561	Standard	NM_023073	NM_023073	NA	Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.5509G>A	5.37:g.37181020C>T	ENSP00000421690:p.Ala1837Thr	NA		37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	15.96	2.988272	0.53934	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.15487	2.42;2.42;2.42;2.42	5.49	-3.59	0.04583	.	1.663970	0.03492	N	0.216836	T	0.08582	0.0213	L	0.29908	0.895	0.09310	N	1	B;B	0.13145	0.002;0.007	B;B	0.10450	0.005;0.005	T	0.22417	-1.0217	10	0.02654	T	1	.	1.5266	0.02526	0.1462:0.3921:0.1864:0.2753	.	1837;718	E9PH94;Q9H799	.;CE042_HUMAN	T	1837;1837;718;885;718	ENSP00000421690:A1837T;ENSP00000389014:A1837T;ENSP00000274258:A718T;ENSP00000424223:A885T	ENSP00000274258:A718T	A	-	1	0	C5orf42	37216777	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.426000	0.07008	-0.310000	0.08766	0.655000	0.94253	GCA	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360806.1		-	ENST00000508244.1	Missense_Mutation	SNP	5 : 37181020 - 37181020 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	275	45
LARGE	9215	broad.mit.edu	37	22	33960892	33960892	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:33960892C>T	ENST00000354992.2	-	7	1300	c.729G>A	c.(727-729)acG>acA	p.T243T	LARGE_ENST00000452586.2_Silent_p.T42T|LARGE_ENST00000402320.1_Silent_p.T243T|LARGE_ENST00000337431.2_Silent_p.T243T|LARGE_ENST00000397394.2_Silent_p.T243T|LARGE_ENST00000437602.2_Silent_p.T243T	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	243					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				AGGTGATATCCGTGTCAAGGA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(70;397 1175 4573 19089 45288)							NA				0													144	124	131			NA	NA	22		NA											NA				33960892		2203	4300	6503	SO:0001819	synonymous_variant			AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424	9215	9215		Glycosyltransferase family 8 domain containing	6511	protein-coding gene	gene with protein product		603590			NA	9892679, 10591208, 12966029	Standard	NM_133642	NM_004737	NA	Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.729G>A	22.37:g.33960892C>T		NA	B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	37	CCDS13912.1																																																																																			LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320515.2		-	ENST00000354992.2	Silent	SNP	22 : 33960892 - 33960892 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	458	87
FKBP5	2289	broad.mit.edu	37	6	35587999	35587999	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35587999C>T	ENST00000539068.1	-	4	505	c.303G>A	c.(301-303)gaG>gaA	p.E101E	FKBP5_ENST00000542713.1_Silent_p.E101E|FKBP5_ENST00000357266.4_Silent_p.E101E|FKBP5_ENST00000536438.1_Silent_p.E101E|FKBP5_ENST00000540787.1_Intron	NM_001145776.1	NP_001139248.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	101	PPIase FKBP-type 1.				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						AATGGCATATCTCTCCTTTCT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	136	146			NA	NA	6		NA											NA				35587999		2203	4300	6503	SO:0001819	synonymous_variant			U42031	CCDS4808.1, CCDS54996.1	6p21.31	2013-01-10	2001-11-28		ENSG00000096060	ENSG00000096060	2289	2289		Tetratricopeptide (TTC) repeat domain containing	3721	protein-coding gene	gene with protein product		602623	FK506-binding protein 5		NA	9001212	Standard		NM_004117	NA	Approved	FKBP51, FKBP54, PPIase, P54, Ptg-10	uc003okx.2	Q13451	OTTHUMG00000014576	ENST00000539068.1:c.303G>A	6.37:g.35587999C>T		NA		37	CCDS4808.1																																																																																			FKBP5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040309.2		-	ENST00000539068.1	Silent	SNP	6 : 35587999 - 35587999 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	425	91
IL6R	3570	broad.mit.edu	37	1	154420626	154420626	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154420626C>T	ENST00000368485.3	+	7	1412	c.975C>T	c.(973-975)aaC>aaT	p.N325N	IL6R_ENST00000507256.1_3'UTR|IL6R_ENST00000344086.4_Silent_p.N325N	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	325					acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGCTGAGAACGAGGTGTCCA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	0,4406		0,0,2203	108	107	107		975,975	-7.9	0	1		107	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	IL6R	NM_000565.3,NM_181359.2	,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,	325/469,325/366	154420626	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712	3570	3570		Interleukins and interleukin receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	6019	protein-coding gene	gene with protein product		147880			NA		Standard	NM_000565	NM_000565	NA	Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.975C>T	1.37:g.154420626C>T		NA	A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	37	CCDS1067.1	.	.	.	.	.	.	.	.	.	.	C	2.700	-0.271183	0.05716	0.0	1.16E-4	ENSG00000160712	ENST00000476006;ENST00000515190	.	.	.	3.96	-7.93	0.01156	.	.	.	.	.	T	0.09598	0.0236	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.15263	-1.0443	4	.	.	.	0.1431	7.4401	0.27179	0.0:0.2439:0.4064:0.3497	.	.	.	.	M	264;128	.	.	T	+	2	0	IL6R	152687250	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-2.845000	0.00735	-2.316000	0.00645	-0.819000	0.03115	ACG	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087911.1		+	ENST00000368485.3	Silent	SNP	1 : 154420626 - 154420626 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	526	17
HTRA2	27429	broad.mit.edu	37	2	74757547	74757547	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74757547G>A	ENST00000258080.3	+	1	1044	c.414G>A	c.(412-414)ccG>ccA	p.P138P	HTRA2_ENST00000352222.3_Silent_p.P138P|HTRA2_ENST00000467961.1_Intron	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	138					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TCCCTAGCCCGCCGCCCGCTT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													7	9	8			NA	NA	2		NA											NA				74757547		2127	4186	6313	SO:0001819	synonymous_variant				CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317	27429	27429		Serine peptidases / Serine peptidases, Parkinson disease	14348	protein-coding gene	gene with protein product		606441	protease, serine, 25	PRSS25	NA	10644717, 10971580	Standard	NM_013247	XM_005264266	NA	Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.414G>A	2.37:g.74757547G>A		NA	Q9HBZ4|Q9P0Y3|Q9P0Y4	37	CCDS1951.1																																																																																			HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252219.2		+	ENST00000258080.3	Silent	SNP	2 : 74757547 - 74757547 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	126	35
SIX1	6495	broad.mit.edu	37	14	61113260	61113260	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61113260T>C	ENST00000554986.1	-	2	112	c.77A>G	c.(76-78)aAg>aGg	p.K26R	SIX1_ENST00000247182.6_Missense_Mutation_p.K199R			Q15475	SIX1_HUMAN	SIX homeobox 1	199					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		TTGGTTCTGCTTGTTGGAGGA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	77	81			NA	NA	14		NA											NA				61113260		2203	4300	6503	SO:0001583	missense			X91868	CCDS9748.1	14q23.1	2011-06-20	2007-07-13		ENSG00000126778	ENSG00000126778	6495	6495		Homeoboxes / SINE class	10887	protein-coding gene	gene with protein product		601205	sine oculis homeobox (Drosophila) homolog 1, sine oculis homeobox homolog 1 (Drosophila), deafness, autosomal dominant 23	DFNA23	NA	8617500, 15141091	Standard		NM_005982	NA	Approved		uc001xfb.4	Q15475	OTTHUMG00000140334	ENST00000554986.1:c.77A>G	14.37:g.61113260T>C	ENSP00000452700:p.Lys26Arg	NA	Q96H64	37		.	.	.	.	.	.	.	.	.	.	T	29.5	5.010109	0.93346	.	.	ENSG00000126778	ENST00000247182;ENST00000555955;ENST00000553535	D;D;D	0.86956	-2.19;-2.18;-2.18	5.19	5.19	0.71726	.	0.045211	0.85682	D	0.000000	T	0.78641	0.4315	N	0.24115	0.695	0.58432	D	0.999994	B	0.06786	0.001	B	0.04013	0.001	T	0.72915	-0.4147	10	0.16896	T	0.51	-23.9489	15.22	0.73303	0.0:0.0:0.0:1.0	.	199	Q15475	SIX1_HUMAN	R	199;15;15	ENSP00000247182:K199R;ENSP00000450952:K15R;ENSP00000450739:K15R	ENSP00000247182:K199R	K	-	2	0	SIX1	60183013	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.815000	0.69215	2.177000	0.69029	0.533000	0.62120	AAG	SIX1-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000412199.3		-	ENST00000554986.1	Missense_Mutation	SNP	14 : 61113260 - 61113260 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	338	13
RENBP	5973	broad.mit.edu	37	X	153208501	153208501	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153208501C>T	ENST00000393700.3	-	6	573	c.493G>A	c.(493-495)Gtc>Atc	p.V165I	RENBP_ENST00000412763.1_Missense_Mutation_p.V165I|RENBP_ENST00000369997.3_Missense_Mutation_p.V151I|RENBP_ENST00000462086.1_5'UTR	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	165					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	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)				N-Acetyl-D-glucosamine(DB00141)	ACCCAGTGGACGATCTGATCC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	16	17			NA	NA	X		NA											NA				153208501		2195	4286	6481	SO:0001583	missense				CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032	5973	5973			9959	protein-coding gene	gene with protein product	N-acylglucosamine 2-epimerase, GlcNAc 2-epimerase, N-acetyl-D-glucosamine 2-epimerase	312420	renin-binding protein		NA	1618798	Standard	NM_002910	NM_002910	NA	Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.493G>A	X.37:g.153208501C>T	ENSP00000377303:p.Val165Ile	NA	B4DNZ3|Q96BI6	37	CCDS14738.2	.	.	.	.	.	.	.	.	.	.	C	0.572	-0.840675	0.02692	.	.	ENSG00000102032	ENST00000393700;ENST00000412763;ENST00000369997	T;T;T	0.29397	1.57;1.57;1.57	3.92	-1.74	0.08056	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.663319	0.14678	N	0.304911	T	0.16471	0.0396	N	0.20401	0.57	0.09310	N	1	B;B	0.13594	0.008;0.006	B;B	0.11329	0.004;0.006	T	0.24261	-1.0165	10	0.23891	T	0.37	-12.8598	9.9145	0.41425	0.0:0.4931:0.0:0.5069	.	165;165	P51606-2;P51606	.;RENBP_HUMAN	I	165;165;151	ENSP00000377303:V165I;ENSP00000387811:V165I;ENSP00000359014:V151I	ENSP00000359014:V151I	V	-	1	0	RENBP	152861695	0.000000	0.05858	0.506000	0.27664	0.123000	0.20343	0.222000	0.17699	-0.396000	0.07703	0.183000	0.17082	GTC	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000061103.3		-	ENST00000393700.3	Missense_Mutation	SNP	X : 153208501 - 153208501 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	153	47
CD38	952	broad.mit.edu	37	4	15780058	15780058	+	Silent	SNP	C	C	T	rs142149974	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15780058C>T	ENST00000226279.3	+	1	158	c.21C>T	c.(19-21)agC>agT	p.S7S		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	NA					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						GCGAGTTCAGCCCGGTGTCCG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	72	69			NA	NA	4		NA											NA				15780058		2203	4300	6503	SO:0001819	synonymous_variant			D84276	CCDS3417.1	4p15.32	2010-05-04	2006-03-28		ENSG00000004468	ENSG00000004468	952	952	3.2.2.5	CD molecules	1667	protein-coding gene	gene with protein product	ADP-ribosyl cyclase 1, NAD(+) nucleosidase	107270	CD38 antigen (p45)		NA	9074508, 2319135	Standard	NM_001775	NM_001775	NA	Approved		uc003gol.1	P28907	OTTHUMG00000048206	ENST00000226279.3:c.21C>T	4.37:g.15780058C>T		NA	O00121|O00122|Q96HY4	37	CCDS3417.1																																																																																			CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250322.2		+	ENST00000226279.3	Silent	SNP	4 : 15780058 - 15780058 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	605	126
COL1A2	1278	broad.mit.edu	37	7	94055816	94055816	+	Nonsense_Mutation	SNP	G	G	T	rs72659322		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94055816G>T	ENST00000297268.6	+	46	3550	c.3079G>T	c.(3079-3081)Gga>Tga	p.G1027*		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1027			G -> E (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGGACACAATGGATTGCAAGG	0.488		NA								HNSCC(75;0.22)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM070849	COL1A2	M	rs72659322						74	57	63			NA	NA	7		NA											NA				94055816		2203	4300	6503	SO:0001587	stop_gained			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692	1278	1278		Collagens	2198	protein-coding gene	gene with protein product	alpha 2(I)-collagen, alpha-2 collagen type I, type I procollagen, collagen I, alpha-2 polypeptide, collagen of skin, tendon and bone, alpha-2 chain	120160	osteogenesis imperfecta type IV	OI4	NA	3857213, 2897363	Standard	NM_000089	NM_000089	NA	Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.3079G>T	7.37:g.94055816G>T	ENSP00000297268:p.Gly1027*	NA	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	37	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	44	10.876843	0.99482	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.5471	0.99284	0.0:0.0:1.0:0.0	.	.	.	.	X	1027;1028	.	ENSP00000297268:G1027X	G	+	1	0	COL1A2	93893752	1.000000	0.71417	0.998000	0.56505	0.014000	0.08584	9.827000	0.99397	2.941000	0.99782	0.655000	0.94253	GGA	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000309045.2		+	ENST00000297268.6	Nonsense_Mutation	SNP	7 : 94055816 - 94055816 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	68	11
NDUFB9	4715	broad.mit.edu	37	8	125555516	125555516	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:125555516A>G	ENST00000522532.1	+	2	337	c.290A>G	c.(289-291)tAc>tGc	p.Y97C	NDUFB9_ENST00000517367.1_Missense_Mutation_p.Y86C|NDUFB9_ENST00000518008.1_Missense_Mutation_p.Y97C|NDUFB9_ENST00000276689.3_Missense_Mutation_p.Y97C			Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	97					mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	TACGATTGCTACAAGGTAGGT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	73	75			NA	NA	8		NA											NA				125555516		2203	4300	6503	SO:0001583	missense			AF044956	CCDS6352.1	8q24.13	2011-07-04	2002-08-29		ENSG00000147684	ENSG00000147684	4715	4715		LYR motif containing, Mitochondrial respiratory chain complex / Complex I	7704	protein-coding gene	gene with protein product	complex I B22 subunit	601445	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9 (22kD, B22)		NA	8661098	Standard	NM_005005	NM_005005	NA	Approved	B22, UQOR22, LYRM3	uc003yrg.4	Q9Y6M9	OTTHUMG00000165054	ENST00000522532.1:c.290A>G	8.37:g.125555516A>G	ENSP00000431115:p.Tyr97Cys	NA	B2R8M6|Q9UQE8	37		.	.	.	.	.	.	.	.	.	.	A	20.4	3.981916	0.74474	.	.	ENSG00000147684	ENST00000276689;ENST00000518008;ENST00000522532;ENST00000517367	T;D;D;T	0.83673	-0.71;-1.75;-1.75;-0.69	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.90092	0.6905	M	0.73962	2.25	0.80722	D	1	B;D	0.89917	0.178;1.0	B;D	0.66979	0.076;0.948	D	0.90846	0.4727	10	0.56958	D	0.05	-18.4647	15.5444	0.76086	1.0:0.0:0.0:0.0	.	97;97	E9PF49;Q9Y6M9	.;NDUB9_HUMAN	C	97;97;97;86	ENSP00000276689:Y97C;ENSP00000428282:Y97C;ENSP00000431115:Y97C;ENSP00000430322:Y86C	ENSP00000276689:Y97C	Y	+	2	0	NDUFB9	125624697	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	8.852000	0.92215	2.070000	0.61991	0.533000	0.62120	TAC	NDUFB9-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000381608.1		+	ENST00000522532.1	Missense_Mutation	SNP	8 : 125555516 - 125555516 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	290	16
BAIAP2	10458	broad.mit.edu	37	17	79077823	79077823	+	Silent	SNP	G	G	A	rs148408272	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79077823G>A	ENST00000416299.2	+	4	570	c.570G>A	c.(568-570)ccG>ccA	p.P190P	BAIAP2_ENST00000575245.1_Silent_p.P360P|BAIAP2_ENST00000428708.2_Silent_p.P327P|BAIAP2_ENST00000392411.3_Silent_p.P249P|BAIAP2_ENST00000321280.7_Silent_p.P327P|BAIAP2_ENST00000435091.3_Silent_p.P327P|BAIAP2_ENST00000321300.6_Silent_p.P327P|BAIAP2_ENST00000575712.1_Silent_p.P327P			Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	327	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)			TGTCTCCTCCGCAGTCTCAGA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	95	93			NA	NA	17		NA											NA				79077823		2203	4300	6503	SO:0001819	synonymous_variant			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.570G>A	17.37:g.79077823G>A		NA	O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	37																																																																																				BAIAP2-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000438562.2		+	ENST00000416299.2	Silent	SNP	17 : 79077823 - 79077823 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	497	88
ANKRD23	200539	broad.mit.edu	37	2	97506535	97506535	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97506535C>T	ENST00000318357.4	-	4	456	c.415G>A	c.(415-417)Gcc>Acc	p.A139T	ANKRD23_ENST00000331001.2_Intron|ANKRD23_ENST00000418232.1_Missense_Mutation_p.A139T|ANKRD23_ENST00000476975.1_Intron	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	139						nucleus				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						TTGTCATGGGCATTGGGGTCC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	125	129			NA	NA	2		NA											NA				97506535		2203	4300	6503	SO:0001583	missense				CCDS2027.1	2q11.2	2013-01-10			ENSG00000163126	ENSG00000163126	200539	200539		Ankyrin repeat domain containing	24470	protein-coding gene	gene with protein product	diabetes related ankyrin repeat protein	610736			NA	12456686	Standard	NM_144994	NM_144994	NA	Approved	DARP, FLJ32449, MARP3	uc002sxa.3	Q86SG2	OTTHUMG00000130534	ENST00000318357.4:c.415G>A	2.37:g.97506535C>T	ENSP00000321679:p.Ala139Thr	NA	Q711K7|Q8NAJ7	37	CCDS2027.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.078512	0.36662	.	.	ENSG00000163126	ENST00000318357;ENST00000418232	T;T	0.66995	-0.24;-0.24	5.03	4.16	0.48862	Ankyrin repeat-containing domain (4);	0.000000	0.39274	N	0.001404	T	0.65375	0.2685	L	0.55743	1.74	0.80722	D	1	P	0.48089	0.905	P	0.50490	0.642	T	0.60875	-0.7176	10	0.17832	T	0.49	-14.3014	9.5251	0.39160	0.0:0.9046:0.0:0.0954	.	139	Q86SG2	ANR23_HUMAN	T	139	ENSP00000321679:A139T;ENSP00000398987:A139T	ENSP00000321679:A139T	A	-	1	0	ANKRD23	96870262	0.302000	0.24454	0.965000	0.40720	0.881000	0.50899	0.725000	0.25970	1.361000	0.45981	-0.224000	0.12420	GCC	ANKRD23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252956.1		-	ENST00000318357.4	Missense_Mutation	SNP	2 : 97506535 - 97506535 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	784	189
KLHL31	401265	broad.mit.edu	37	6	53519553	53519553	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:53519553A>G	ENST00000407079.1	-	1	517	c.518T>C	c.(517-519)aTg>aCg	p.M173T	KLHL31_ENST00000370905.3_Missense_Mutation_p.M173T			Q9H511	KLH31_HUMAN	kelch-like family member 31	173	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					AACAACATACATGCAATTCTC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	79	78			NA	NA	6		NA											NA				53519553		2203	4300	6503	SO:0001583	missense				CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743	401265	401265		Kelch-like, BTB/POZ domain containing	21353	protein-coding gene	gene with protein product		610749	kelch repeat and BTB (POZ) domain containing 1, kelch-like 31 (Drosophila)	KBTBD1	NA		Standard	NM_001003760	NM_001003760	NA	Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.518T>C	6.37:g.53519553A>G	ENSP00000384644:p.Met173Thr	NA	A6N9J2|B2RP49	37	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	A	11.28	1.590830	0.28357	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.68624	-0.34;-0.34	6.03	4.87	0.63330	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.47563	0.1452	L	0.54323	1.7	0.53688	D	0.999978	B	0.18461	0.028	B	0.18263	0.021	T	0.52711	-0.8539	10	0.62326	D	0.03	.	12.1727	0.54167	0.9336:0.0:0.0664:0.0	.	173	Q9H511	KLH31_HUMAN	T	173	ENSP00000359942:M173T;ENSP00000384644:M173T	ENSP00000359942:M173T	M	-	2	0	KLHL31	53627512	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	7.522000	0.81844	1.100000	0.41517	0.454000	0.30748	ATG	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040965.1		-	ENST00000407079.1	Missense_Mutation	SNP	6 : 53519553 - 53519553 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	438	89
CEP57	9702	broad.mit.edu	37	11	95555146	95555146	+	Nonstop_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:95555146T>G	ENST00000537677.1	+	7	940				CEP57_ENST00000325486.5_Intron|CEP57_ENST00000325542.5_Intron|CEP57_ENST00000541150.1_Intron|CEP57_ENST00000538658.1_Nonstop_Mutation_p.*271G			Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	NA					fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGAAAAGGTGTGAAGACAGAA	0.358		NA							Mosaic Variegated Aneuploidy Syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	39	40			NA	NA	11		NA											NA				95555146		2201	4298	6499	SO:0001627	intron_variant	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037	9702	9702			30794	protein-coding gene	gene with protein product		607951			NA	7788527	Standard	NM_014679	NM_014679	NA	Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000537677.1:c.726+4T>G	11.37:g.95555146T>G		NA	A0PJH1|A8K5D0|B4DDP5|Q14704|Q5JB46|Q8IXP0|Q9BVF9	37		.	.	.	.	.	.	.	.	.	.	T	6.641	0.486791	0.12641	.	.	ENSG00000166037	ENST00000538658	.	.	.	4.67	2.25	0.28309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.3637	0.21443	0.1574:0.0:0.1644:0.6782	.	.	.	.	G	271	.	.	X	+	1	0	CEP57	95194794	0.993000	0.37304	0.973000	0.42090	0.424000	0.31475	0.422000	0.21296	0.478000	0.27488	0.528000	0.53228	TGA	CEP57-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000395982.1		+	ENST00000537677.1	Intron	SNP	11 : 95555146 - 95555146 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	98	15
OR10H3	26532	broad.mit.edu	37	19	15852562	15852562	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15852562C>T	ENST00000305892.1	+	1	360	c.360C>T	c.(358-360)ggC>ggT	p.G120G		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGGTCATGGGCTATGATCACT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													344	277	300			NA	NA	19		NA											NA				15852562		2203	4300	6503	SO:0001819	synonymous_variant				CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936	26532	26532		GPCR / Class A : Olfactory receptors	8174	protein-coding gene	gene with protein product					NA		Standard		NM_013938	NA	Approved		uc010xoq.2	O60404		ENST00000305892.1:c.360C>T	19.37:g.15852562C>T		NA	Q2HIZ3|Q6IFQ0	37	CCDS12334.1																																																																																			OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460918.1		+	ENST00000305892.1	Silent	SNP	19 : 15852562 - 15852562 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	933	204
CLN5	1203	broad.mit.edu	37	13	77570262	77570262	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77570262G>T	ENST00000377453.3	+	3	2004	c.712G>T	c.(712-714)Gga>Tga	p.G238*	CLN5_ENST00000485938.1_3'UTR	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	189					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		AACTATATCAGGTAAGTTGTG	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	87	88			NA	NA	13		NA											NA				77570262		2203	4300	6503	SO:0001630	splice_region_variant				CCDS9456.1	13q21.2-q32	2014-09-17			ENSG00000102805	ENSG00000102805	1203	1203			2076	protein-coding gene	gene with protein product		608102			NA	7942847, 8661106	Standard	NM_006493	NM_006493	NA	Approved		uc001vkc.3	O75503	OTTHUMG00000017100	ENST00000377453.3:c.712+1G>T	13.37:g.77570262G>T		NA		37	CCDS9456.1	.	.	.	.	.	.	.	.	.	.	G	47	13.781606	0.99763	.	.	ENSG00000102805	ENST00000377453;ENST00000541907;ENST00000535238	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.6383	19.3321	0.94295	0.0:0.0:1.0:0.0	.	.	.	.	X	238;189;104	.	ENSP00000366673:G238X	G	+	1	0	CLN5	76468263	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	9.476000	0.97823	2.581000	0.87130	0.655000	0.94253	GGA	CLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045318.1	Nonsense_Mutation	+	ENST00000377453.3	Splice_Site	SNP	13 : 77570262 - 77570262 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	593	26
CASR	846	broad.mit.edu	37	3	122003168	122003168	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122003168C>T	ENST00000498619.1	+	7	2835	c.2397C>T	c.(2395-2397)ttC>ttT	p.F799F	CASR_ENST00000490131.1_Silent_p.F789F|CASR_ENST00000296154.5_Silent_p.F789F	NM_001178065.1	NP_001171536	P41180	CASR_HUMAN	calcium-sensing receptor	789					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCTGCTTCTTCTTTGCCTTCA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	43	43			NA	NA	3		NA											NA				122003168		2203	4300	6503	SO:0001819	synonymous_variant			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828	846	846		GPCR / Class C : Calcium-sensing receptors	1514	protein-coding gene	gene with protein product	severe neonatal hyperparathyroidism	601199	hypocalciuric hypercalcemia 1	HHC, HHC1	NA	7677761	Standard	NM_000388	NM_000388	NA	Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000498619.1:c.2397C>T	3.37:g.122003168C>T		NA	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	37	CCDS54632.1																																																																																			CASR-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355762.1		+	ENST00000498619.1	Silent	SNP	3 : 122003168 - 122003168 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	12
ACVR2A	92	broad.mit.edu	37	2	148680620	148680620	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:148680620G>A	ENST00000241416.7	+	9	1792	c.1156G>A	c.(1156-1158)Gat>Aat	p.D386N	ACVR2A_ENST00000404590.1_Missense_Mutation_p.D386N|ACVR2A_ENST00000535787.1_Missense_Mutation_p.D278N	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	386	Protein kinase.				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)		TTTGAGGATAGATATGTATGC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													183	189	187			NA	NA	2		NA											NA				148680620		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.1156G>A	2.37:g.148680620G>A	ENSP00000241416:p.Asp386Asn	NA	B2RAB8|D3DP85|Q53TH4|Q6NWV2|Q92474	37	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	G	36	5.804209	0.96967	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	D;D;D	0.99394	-5.82;-5.82;-5.82	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99725	0.9893	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97380	0.9982	10	0.87932	D	0	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	386	P27037	AVR2A_HUMAN	N	386;278;386	ENSP00000241416:D386N;ENSP00000439988:D278N;ENSP00000384338:D386N	ENSP00000241416:D386N	D	+	1	0	ACVR2A	148397090	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.629000	0.98417	2.941000	0.99782	0.655000	0.94253	GAT	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319051.1		+	ENST00000241416.7	Missense_Mutation	SNP	2 : 148680620 - 148680620 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	969	33
RELN	5649	broad.mit.edu	37	7	103215993	103215993	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103215993A>G	ENST00000428762.1	-	29	4463		c.e29+1		RELN_ENST00000424685.2_Splice_Site|RELN_ENST00000343529.5_Splice_Site	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	NA					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)		ATTTAGCCTTACCAGTATATC	0.398		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													111	99	103			NA	NA	7		NA											NA				103215993		2203	4300	6503	SO:0001630	splice_region_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.4303+1T>C	7.37:g.103215993A>G		NA	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	A	15.32	2.797698	0.50208	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9441	0.79779	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RELN	103003229	1.000000	0.71417	1.000000	0.80357	0.274000	0.26718	8.910000	0.92685	2.225000	0.72522	0.460000	0.39030	.	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348148.1	Intron	-	ENST00000428762.1	Splice_Site	SNP	7 : 103215993 - 103215993 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	369	56
SH2B1	25970	broad.mit.edu	37	16	28877932	28877932	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28877932C>T	ENST00000545570.1	+	2	196				SH2B1_ENST00000337120.5_Missense_Mutation_p.R173W|SH2B1_ENST00000322610.8_Missense_Mutation_p.R173W|SH2B1_ENST00000359285.5_Missense_Mutation_p.R173W|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000395532.4_Missense_Mutation_p.R173W			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	NA					blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CCTGCAGTGGCGGGGGACCGT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	74	75			NA	NA	16		NA											NA				28877932		2197	4300	6497	SO:0001627	intron_variant			AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14					25970	25970		Pleckstrin homology (PH) domain containing, SH2 domain containing	30417	protein-coding gene	gene with protein product	SH2-B homolog	608937			NA	11827956, 10594240	Standard	NM_015503	NM_001145812	NA	Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000545570.1:c.10-720C>T	16.37:g.28877932C>T		NA	A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	37		.	.	.	.	.	.	.	.	.	.	C	17.05	3.290829	0.59976	.	.	ENSG00000178188	ENST00000322610;ENST00000359285;ENST00000395532;ENST00000337120	T;T;T;T	0.60171	0.21;0.23;0.25;0.25	4.48	3.45	0.39498	.	0.000000	0.64402	D	0.000014	T	0.57359	0.2048	N	0.19112	0.55	0.40827	D	0.98355	D;D;D	0.76494	0.986;0.999;0.99	B;D;B	0.67548	0.432;0.952;0.249	T	0.62497	-0.6842	10	0.87932	D	0	-25.0824	9.5837	0.39504	0.4051:0.5949:0.0:0.0	.	173;173;173	Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;SH2B1_HUMAN	W	173	ENSP00000321221:R173W;ENSP00000352232:R173W;ENSP00000378903:R173W;ENSP00000337163:R173W	ENSP00000321221:R173W	R	+	1	2	SH2B1	28785433	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	0.960000	0.29253	2.055000	0.61198	0.455000	0.32223	CGG	SH2B1-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000432669.1		+	ENST00000545570.1	Intron	SNP	16 : 28877932 - 28877932 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	539	136
DHFR	1719	broad.mit.edu	37	5	79924945	79924945	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79924945G>A	ENST00000439211.2	-	6	1018	c.525C>T	c.(523-525)ggC>ggT	p.G175G	DHFR_ENST00000511032.1_3'UTR|DHFR_ENST00000505337.1_Silent_p.G175G|DHFR_ENST00000504396.1_Silent_p.G123G|DHFR_ENST00000513048.1_5'UTR	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	175	DHFR.				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	TGTACTTAATGCCTTTCTCCT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	21	22			NA	NA	5		NA											NA				79924945		1867	4122	5989	SO:0001819	synonymous_variant				CCDS47240.1	5q11.2-q13.2	2012-10-02			ENSG00000228716	ENSG00000228716	1719	1719	1.5.1.3		2861	protein-coding gene	gene with protein product		126060			NA		Standard	NM_000791	XM_005248455	NA	Approved		uc003kgy.1	P00374	OTTHUMG00000162529	ENST00000439211.2:c.525C>T	5.37:g.79924945G>A		NA	Q14130|Q6IRW8	37	CCDS47240.1																																																																																			DHFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369450.1		-	ENST00000439211.2	Silent	SNP	5 : 79924945 - 79924945 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	168	35
ECM1	1893	broad.mit.edu	37	1	150483559	150483559	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150483559C>A	ENST00000369047.4	+	6	718	c.593C>A	c.(592-594)tCc>tAc	p.S198Y	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Missense_Mutation_p.S198Y|ECM1_ENST00000369049.4_Missense_Mutation_p.S225Y	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	198	2 X approximate repeats.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTACCACAGTCCAGCTACTCC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(156;1696 2560 11093 19685)							NA				0													143	146	145			NA	NA	1		NA											NA				150483559		2203	4300	6503	SO:0001583	missense			U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369	1893	1893			3153	protein-coding gene	gene with protein product		602201			NA	9367673, 9501329	Standard	NM_004425	NM_004425	NA	Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.593C>A	1.37:g.150483559C>A	ENSP00000358043:p.Ser198Tyr	NA	A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	37	CCDS953.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672578	0.67928	.	.	ENSG00000143369	ENST00000369049;ENST00000369047;ENST00000346569	T;T;T	0.77098	-1.07;-1.07;-1.07	5.04	5.04	0.67666	.	0.632800	0.15972	N	0.235704	T	0.81697	0.4877	L	0.53249	1.67	0.38322	D	0.943551	D;D;D;D;D;D	0.71674	0.995;0.998;0.991;0.998;0.993;0.998	D;D;P;D;P;D	0.68483	0.913;0.914;0.904;0.958;0.827;0.958	T	0.83003	-0.0176	10	0.87932	D	0	-4.0979	13.7487	0.62894	0.0:1.0:0.0:0.0	.	120;127;225;198;198;198	B7ZAS5;Q16610-3;Q16610-4;C8CHS3;Q16610-2;Q16610	.;.;.;.;.;ECM1_HUMAN	Y	225;198;198	ENSP00000358045:S225Y;ENSP00000358043:S198Y;ENSP00000271630:S198Y	ENSP00000271630:S198Y	S	+	2	0	ECM1	148750183	0.992000	0.36948	0.997000	0.53966	0.958000	0.62258	2.324000	0.43831	2.640000	0.89533	0.655000	0.94253	TCC	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000035832.2		+	ENST00000369047.4	Missense_Mutation	SNP	1 : 150483559 - 150483559 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1472	95
MIS18BP1	55320	broad.mit.edu	37	14	45716257	45716257	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45716257G>T	ENST00000310806.4	-	2	691	c.233C>A	c.(232-234)aCt>aAt	p.T78N		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	78					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TGTTAGCATAGTTGATTGAAA	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	68	68			NA	NA	14		NA											NA				45716257		2203	4300	6503	SO:0001583	missense			AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534	55320	55320			20190	protein-coding gene	gene with protein product	kinetochore null 2 homolog (C. elegans)		chromosome 14 open reading frame 106	C14orf106	NA	17339379, 17199038	Standard		NM_018353	NA	Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.233C>A	14.37:g.45716257G>T	ENSP00000309790:p.Thr78Asn	NA	D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	37	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.495596	0.44352	.	.	ENSG00000129534	ENST00000310806;ENST00000451174	T	0.32753	1.44	5.64	5.64	0.86602	.	0.145281	0.47455	D	0.000232	T	0.53302	0.1788	M	0.66939	2.045	0.37912	D	0.931412	D	0.89917	1.0	D	0.83275	0.996	T	0.53634	-0.8411	10	0.37606	T	0.19	-8.7125	15.2134	0.73244	0.0:0.0:1.0:0.0	.	78	Q6P0N0	M18BP_HUMAN	N	78	ENSP00000309790:T78N	ENSP00000309790:T78N	T	-	2	0	MIS18BP1	44786007	1.000000	0.71417	0.978000	0.43139	0.101000	0.19017	4.771000	0.62318	2.659000	0.90383	0.650000	0.86243	ACT	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276795.2		-	ENST00000310806.4	Missense_Mutation	SNP	14 : 45716257 - 45716257 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	417	71
USP12	219333	broad.mit.edu	37	13	27645271	27645271	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27645271G>A	ENST00000282344.6	-	8	1204	c.948C>T	c.(946-948)ggC>ggT	p.G316G		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	316					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		CAATATAATGGCCTCGATTGG	0.274		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(37;808 911 7590 44442 44991)							NA				0													67	66	66			NA	NA	13		NA											NA				27645271		2203	4297	6500	SO:0001819	synonymous_variant			AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484	219333	219333		Ubiquitin-specific peptidases	20485	protein-coding gene	gene with protein product			ubiquitin specific protease 12 like 1, ubiquitin specific protease 12	USP12L1	NA	12838346	Standard	NM_182488	NM_182488	NA	Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.948C>T	13.37:g.27645271G>A		NA	A8K0X0|Q5VZV3|Q8TC49	37	CCDS31952.1																																																																																			USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044264.1		-	ENST00000282344.6	Silent	SNP	13 : 27645271 - 27645271 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	273	22
MAS1L	116511	broad.mit.edu	37	6	29454915	29454915	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29454915C>A	ENST00000377127.3	-	1	823	c.765G>T	c.(763-765)caG>caT	p.Q255H		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	255						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						CCTTTTGCTGCTGGGAGCAGC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(153;755 1987 3859 11251 32945)							NA				0													37	39	38			NA	NA	6		NA											NA				29454915		2203	4300	6503	SO:0001583	missense			S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687	116511	116511		GPCR / Class A : Orphans	13961	protein-coding gene	gene with protein product		607235	MAS1 oncogene-like		NA		Standard	NM_052967	NM_052967	NA	Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.765G>T	6.37:g.29454915C>A	ENSP00000366331:p.Gln255His	NA		37	CCDS4661.1	.	.	.	.	.	.	.	.	.	.	C	7.813	0.716025	0.15306	.	.	ENSG00000204687	ENST00000377127	T	0.37411	1.2	2.23	2.23	0.28157	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.12689	0.0308	L	0.27053	0.805	0.09310	N	1	B	0.29188	0.236	B	0.36989	0.238	T	0.32877	-0.9890	9	0.23302	T	0.38	.	10.2658	0.43453	0.0:1.0:0.0:0.0	.	255	P35410	MAS1L_HUMAN	H	255	ENSP00000366331:Q255H	ENSP00000366331:Q255H	Q	-	3	2	MAS1L	29562894	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.708000	0.25719	1.291000	0.44653	0.498000	0.49722	CAG	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076126.2		-	ENST00000377127.3	Missense_Mutation	SNP	6 : 29454915 - 29454915 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	58
TCERG1L	256536	broad.mit.edu	37	10	133058578	133058578	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:133058578C>T	ENST00000368642.4	-	4	885	c.800G>A	c.(799-801)cGc>cAc	p.R267H		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	267										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CAGGAAGTGGCGCGGCTGCAC	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	27	25			NA	NA	10		NA											NA				133058578		2202	4300	6502	SO:0001583	missense			AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769	256536	256536			23533	protein-coding gene	gene with protein product					NA		Standard	NM_174937	NM_174937	NA	Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.800G>A	10.37:g.133058578C>T	ENSP00000357631:p.Arg267His	NA	Q5VWI2|Q86XM8	37	CCDS7662.2	.	.	.	.	.	.	.	.	.	.	C	16.32	3.090020	0.55968	.	.	ENSG00000176769	ENST00000368642	T	0.22743	1.94	5.2	4.29	0.51040	.	0.157333	0.45126	D	0.000395	T	0.07548	0.0190	N	0.08118	0	0.23677	N	0.997137	P	0.43314	0.803	B	0.29353	0.101	T	0.25257	-1.0137	10	0.15066	T	0.55	-1.6377	10.7194	0.46032	0.0:0.9105:0.0:0.0895	.	267	Q5VWI1	TCRGL_HUMAN	H	267	ENSP00000357631:R267H	ENSP00000357631:R267H	R	-	2	0	TCERG1L	132948568	0.946000	0.32159	0.850000	0.33497	0.813000	0.45954	0.607000	0.24209	1.168000	0.42723	0.655000	0.94253	CGC	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091619.2		-	ENST00000368642.4	Missense_Mutation	SNP	10 : 133058578 - 133058578 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	143	24
TMC3	342125	broad.mit.edu	37	15	81625165	81625165	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81625165G>A	ENST00000558726.1	-	22	3036	c.2901C>T	c.(2899-2901)ctC>ctT	p.L967L	TMC3_ENST00000359440.5_Silent_p.L966L|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	966						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GAGCCCGACGGAGGTCTATCA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	17	16			NA	NA	15		NA											NA				81625165		1851	4074	5925	SO:0001819	synonymous_variant			AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869	342125	342125			22995	protein-coding gene	gene with protein product					NA	12906855, 12812529	Standard	NM_181841	NM_001080532	NA	Approved		uc021ssk.1	Q7Z5M5		ENST00000558726.1:c.2901C>T	15.37:g.81625165G>A		NA	Q7Z405	37																																																																																				TMC3-004	NOVEL	NAGNAG_splice_site|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000439656.1		-	ENST00000558726.1	Silent	SNP	15 : 81625165 - 81625165 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	130	23
DRAXIN	374946	broad.mit.edu	37	1	11766469	11766469	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11766469C>A	ENST00000294485.5	+	2	289	c.154C>A	c.(154-156)Cct>Act	p.P52T		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein	NA											NA						GCTGTGGACGCCTCAGGCCAG	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	18	17			NA	NA	1		NA											NA				11766469		2202	4294	6496	SO:0001583	missense			AY358750	CCDS135.1	1p36.22	2012-08-20	2012-08-14	2012-08-14	ENSG00000162490	ENSG00000162490	374946	374946			25054	protein-coding gene	gene with protein product	dorsal repulsive axon guidance protein, neural tissue-specific cysteine-rich protein	612682	chromosome 1 open reading frame 187	C1orf187	NA	19150847	Standard	NM_198545	NM_198545	NA	Approved	FLJ34999, Draxin, Neucrin	uc001asr.1	Q8NBI3	OTTHUMG00000002227	ENST00000294485.5:c.154C>A	1.37:g.11766469C>A	ENSP00000294485:p.Pro52Thr	NA		37	CCDS135.1	.	.	.	.	.	.	.	.	.	.	C	1.476	-0.558601	0.03967	.	.	ENSG00000162490	ENST00000294485	T	0.40225	1.04	4.54	3.61	0.41365	.	0.413084	0.22949	N	0.053686	T	0.30324	0.0761	L	0.45581	1.43	0.09310	N	1	P	0.36909	0.573	B	0.36666	0.23	T	0.21724	-1.0237	10	0.02654	T	1	-2.7206	10.3928	0.44184	0.0:0.9061:0.0:0.0939	.	52	Q8NBI3	DRAXI_HUMAN	T	52	ENSP00000294485:P52T	ENSP00000294485:P52T	P	+	1	0	C1orf187	11689056	0.067000	0.21026	0.219000	0.23793	0.081000	0.17604	1.938000	0.40203	0.857000	0.35407	0.313000	0.20887	CCT	DRAXIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006325.1		+	ENST00000294485.5	Missense_Mutation	SNP	1 : 11766469 - 11766469 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	203	43
MTSS1L	92154	broad.mit.edu	37	16	70714875	70714875	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70714875G>A	ENST00000338779.6	-	2	397	c.123C>T	c.(121-123)tcC>tcT	p.S41S		NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	41	IMD.				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						ACCTCAGCTGGGAATGCAGCT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	58	57			NA	NA	16		NA											NA				70714875		2195	4297	6492	SO:0001819	synonymous_variant				CCDS32476.1	16q22.1	2008-12-16				ENSG00000132613	92154	92154			25094	protein-coding gene	gene with protein product	actin-bundling protein with BAIAP2 homology				NA	12477932	Standard	NM_138383	XM_006721335	NA	Approved	ABBA-1, LOC92154	uc002ezj.3	Q765P7		ENST00000338779.6:c.123C>T	16.37:g.70714875G>A		NA	A6NJI7|Q9BUA8	37	CCDS32476.1																																																																																			MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434927.3		-	ENST00000338779.6	Silent	SNP	16 : 70714875 - 70714875 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	83	19
MTMR1	8776	broad.mit.edu	37	X	149924229	149924229	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149924229C>A	ENST00000445323.2	+	15	1870	c.1749C>A	c.(1747-1749)ccC>ccA	p.P583P	MTMR1_ENST00000370390.3_Silent_p.P575P|MTMR1_ENST00000538506.1_3'UTR|MTMR1_ENST00000544228.1_Silent_p.P575P|MTMR1_ENST00000541925.1_Silent_p.P481P			Q13613	MTMR1_HUMAN	myotubularin related protein 1	575	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCTAATCCCTTCTTTGTGA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	140	147			NA	NA	X		NA											NA				149924229		2203	4300	6503	SO:0001819	synonymous_variant			U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601	8776	8776		Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins	7449	protein-coding gene	gene with protein product		300171			NA	9828128	Standard	NM_003828, NM_176789	XM_005274765	NA	Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000445323.2:c.1749C>A	X.37:g.149924229C>A		NA	Q9UBX6|Q9UEM0|Q9UQD5	37																																																																																				MTMR1-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000060852.3		+	ENST00000445323.2	Silent	SNP	X : 149924229 - 149924229 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	82
RND1	27289	broad.mit.edu	37	12	49255902	49255902	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49255902C>A	ENST00000309739.5	-	3	339		c.e3-1			NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	NA					actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						TAGGGAGATCCTGGTGTAGGC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	116	122			NA	NA	12		NA											NA				49255902		2203	4300	6503	SO:0001630	splice_region_variant			Y07923	CCDS8771.1	12q12	2008-01-23				ENSG00000172602	27289	27289			18314	protein-coding gene	gene with protein product	ras homolog gene family, member S	609038			NA	9531558	Standard	NM_014470	NM_014470	NA	Approved	Rho6, ARHS, RHOS	uc001rsn.3	Q92730	OTTHUMG00000170400	ENST00000309739.5:c.209-1G>T	12.37:g.49255902C>A		NA	A8K9P7	37	CCDS8771.1	.	.	.	.	.	.	.	.	.	.	C	31	5.058756	0.93846	.	.	ENSG00000172602	ENST00000309739	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8627	0.88786	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RND1	47542169	1.000000	0.71417	0.984000	0.44739	0.798000	0.45092	7.419000	0.80179	2.837000	0.97791	0.655000	0.94253	.	RND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408915.1	Intron	-	ENST00000309739.5	Splice_Site	SNP	12 : 49255902 - 49255902 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	180	36
NMD3	51068	broad.mit.edu	37	3	160952621	160952621	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160952621C>T	ENST00000460469.1	+	5	919	c.464C>T	c.(463-465)gCt>gTt	p.A155V	NMD3_ENST00000472947.1_Missense_Mutation_p.A155V|NMD3_ENST00000351193.2_Missense_Mutation_p.A155V|NMD3_ENST00000478160.1_3'UTR			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	155					protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			TTCTGGAAGGCTGTGATTCAA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													188	181	184			NA	NA	3		NA											NA				160952621		2203	4300	6503	SO:0001583	missense			BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251	51068	51068			24250	protein-coding gene	gene with protein product		611021	NMD3 homolog (S. cerevisiae)		NA	10810093, 23782956, 12773398	Standard	NM_015938	NM_015938	NA	Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.464C>T	3.37:g.160952621C>T	ENSP00000419004:p.Ala155Val	NA	D3DNM7|Q9Y2Z6	37	CCDS3194.1	.	.	.	.	.	.	.	.	.	.	C	34	5.313233	0.95655	.	.	ENSG00000169251	ENST00000460503;ENST00000493066;ENST00000351193;ENST00000472947;ENST00000463518;ENST00000476237;ENST00000460469;ENST00000540137	T;T;T;T;T;T;T	0.62941	0.45;0.21;0.05;-0.01;0.21;0.35;0.05	4.83	4.83	0.62350	.	0.103596	0.64402	D	0.000003	D	0.85106	0.5621	H	0.95402	3.665	0.80722	D	1	D;D	0.76494	0.992;0.999	D;D	0.72075	0.976;0.96	D	0.90009	0.4120	10	0.87932	D	0	-23.6263	17.2642	0.87081	0.0:1.0:0.0:0.0	.	155;155	C9JA08;Q96D46	.;NMD3_HUMAN	V	155;155;155;155;155;155;155;35	ENSP00000418980:A155V;ENSP00000419030:A155V;ENSP00000307525:A155V;ENSP00000417559:A155V;ENSP00000418908:A155V;ENSP00000419647:A155V;ENSP00000419004:A155V	ENSP00000307525:A155V	A	+	2	0	NMD3	162435315	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.219000	0.78000	2.376000	0.81061	0.591000	0.81541	GCT	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353114.1		+	ENST00000460469.1	Missense_Mutation	SNP	3 : 160952621 - 160952621 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	727	117
SRRT	51593	broad.mit.edu	37	7	100482962	100482962	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100482962C>A	ENST00000388793.4	+	10	1505	c.1285C>A	c.(1285-1287)Ccc>Acc	p.P429T	SRRT_ENST00000347433.4_Missense_Mutation_p.P430T|SRRT_ENST00000457580.2_Missense_Mutation_p.P430T|SRRT_ENST00000432932.1_Missense_Mutation_p.P429T	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	430					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CAACATCGCGCCCAACATCTC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	44	44			NA	NA	7		NA											NA				100482962		2203	4300	6503	SO:0001583	missense				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087	51593	51593			24101	protein-coding gene	gene with protein product	arsenite resistance protein	614469	serrate RNA effector molecule homolog (Arabidopsis)		NA	11239002, 11230166	Standard	NM_015908	NM_015908	NA	Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000388793.4:c.1285C>A	7.37:g.100482962C>A	ENSP00000373445:p.Pro429Thr	NA	A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	37	CCDS47666.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774444	0.90108	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433;ENST00000448764	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.68686	0.3028	M	0.76727	2.345	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.998;0.998;0.994	T	0.72134	-0.4382	10	0.72032	D	0.01	.	15.8215	0.78648	0.0:1.0:0.0:0.0	.	429;429;430;430	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	T	430;429;429;430;60	ENSP00000416553:P430T;ENSP00000373445:P429T;ENSP00000391852:P429T;ENSP00000314491:P430T	ENSP00000314491:P430T	P	+	1	0	SRRT	100320898	1.000000	0.71417	0.985000	0.45067	0.932000	0.56968	6.751000	0.74893	2.595000	0.87683	0.655000	0.94253	CCC	SRRT-002	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347166.1		+	ENST00000388793.4	Missense_Mutation	SNP	7 : 100482962 - 100482962 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	409	89
RBL2	5934	broad.mit.edu	37	16	53515625	53515625	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53515625G>A	ENST00000262133.6	+	21	3264	c.3127G>A	c.(3127-3129)Ggc>Agc	p.G1043S	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Splice_Site	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	1043					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGTAAGAACAGGCTCCCCTCG	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	68	71			NA	NA	16		NA											NA				53515625		2198	4300	6498	SO:0001583	missense			X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479	5934	5934			9894	protein-coding gene	gene with protein product		180203			NA	8361765, 8643454	Standard	NM_005611	NM_005611	NA	Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.3127G>A	16.37:g.53515625G>A	ENSP00000262133:p.Gly1043Ser	NA	Q15073|Q16084|Q92812	37	CCDS10748.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.35|17.35	3.367181|3.367181	0.61513|0.61513	.|.	.|.	ENSG00000103479|ENSG00000103479	ENST00000544545|ENST00000262133;ENST00000379935	.|T	.|0.53206	.|0.63	5.37|5.37	3.42|3.42	0.39159|0.39159	.|.	.|0.148324	.|0.64402	.|N	.|0.000011	.|T	.|0.30386	.|0.0763	N|N	0.20986|0.20986	0.625|0.625	0.80722|0.80722	D|D	1|1	.|B;B	.|0.27498	.|0.017;0.18	.|B;B	.|0.23150	.|0.015;0.044	.|T	.|0.05194	.|-1.0900	.|10	.|0.22109	.|T	.|0.4	.|-5.3975	11.2464|11.2464	0.49000|0.49000	0.1955:0.0:0.8045:0.0|0.1955:0.0:0.8045:0.0	.|.	.|753;1043	.|E9PG04;Q08999	.|.;RBL2_HUMAN	.|S	-1|1043;753	.|ENSP00000262133:G1043S	.|ENSP00000262133:G1043S	.|G	+|+	.|1	.|0	RBL2|RBL2	52073126|52073126	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.956000|4.956000	0.63645|0.63645	0.758000|0.758000	0.33059|0.33059	0.650000|0.650000	0.86243|0.86243	.|GGC	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256908.3		+	ENST00000262133.6	Missense_Mutation	SNP	16 : 53515625 - 53515625 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	188	36
ILVBL	10994	broad.mit.edu	37	19	15233511	15233511	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15233511C>T	ENST00000263383.3	-	6	848	c.709G>A	c.(709-711)Gtc>Atc	p.V237I	ILVBL_ENST00000534378.1_Missense_Mutation_p.V130I|ILVBL_ENST00000531635.1_5'UTR	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	237						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CACCAGGAGACCACTCGGCCC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	59	61			NA	NA	19		NA											NA				15233511		2203	4300	6503	SO:0001583	missense			U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135	10994	10994			6041	protein-coding gene	gene with protein product	acetolactate synthase homolog	605770			NA	8954801	Standard	NM_006844	NM_006844	NA	Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.709G>A	19.37:g.15233511C>T	ENSP00000263383:p.Val237Ile	NA	O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	37	CCDS12325.1	.	.	.	.	.	.	.	.	.	.	C	8.052	0.766195	0.15983	.	.	ENSG00000105135	ENST00000263383;ENST00000527093	T	0.30448	1.53	4.36	1.06	0.20224	.	0.423880	0.25552	N	0.029899	T	0.20577	0.0495	L	0.39245	1.2	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.15464	-1.0436	10	0.33940	T	0.23	-13.666	6.6627	0.23022	0.0:0.6123:0.0:0.3877	.	237	A1L0T0	ILVBL_HUMAN	I	237	ENSP00000263383:V237I	ENSP00000263383:V237I	V	-	1	0	ILVBL	15094511	0.122000	0.22280	0.001000	0.08648	0.082000	0.17680	0.614000	0.24314	0.141000	0.18875	-0.291000	0.09656	GTC	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385439.1		-	ENST00000263383.3	Missense_Mutation	SNP	19 : 15233511 - 15233511 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	51
BNC2	54796	broad.mit.edu	37	9	16436949	16436949	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:16436949T>C	ENST00000380672.4	-	6	1300	c.1243A>G	c.(1243-1245)Acc>Gcc	p.T415A	BNC2_ENST00000380667.2_Missense_Mutation_p.T348A|BNC2_ENST00000380666.2_Missense_Mutation_p.T415A|BNC2_ENST00000545497.1_Missense_Mutation_p.T320A	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TCAGTTTTGGTTAGATCACTG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	78	80			NA	NA	9		NA											NA				16436949		2203	4300	6503	SO:0001583	missense			AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068	54796	54796		Zinc fingers, C2H2-type	30988	protein-coding gene	gene with protein product		608669			NA	14702039	Standard	NM_017637	XM_006716784	NA	Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1243A>G	9.37:g.16436949T>C	ENSP00000370047:p.Thr415Ala	NA	B1APG9|Q6T3A3|Q8NAR2|Q9H6J0|Q9NXV0	37	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	T	0.117	-1.131188	0.01756	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.30981	1.53;1.52;1.54;1.54;1.51	6.07	2.28	0.28536	.	0.910256	0.09748	N	0.761036	T	0.13970	0.0338	N	0.08118	0	0.09310	N	0.999999	B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B	0.04013	0.0;0.0;0.0;0.001;0.0;0.0;0.0;0.0;0.0	T	0.34153	-0.9840	10	0.18276	T	0.48	-7.7067	5.7067	0.17913	0.5184:0.0903:0.0:0.3913	.	320;348;415;241;415;372;415;320;180	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	A	415;372;348;320;241;415;415	ENSP00000370047:T415A;ENSP00000408370:T372A;ENSP00000370042:T348A;ENSP00000444640:T320A;ENSP00000370041:T415A	ENSP00000370041:T415A	T	-	1	0	BNC2	16426949	0.510000	0.26171	0.715000	0.30552	0.046000	0.14306	1.029000	0.30140	0.462000	0.27095	0.533000	0.62120	ACC	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216901.5		-	ENST00000380672.4	Missense_Mutation	SNP	9 : 16436949 - 16436949 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	243	53
TARBP2	6895	broad.mit.edu	37	12	53899866	53899866	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53899866G>A	ENST00000552857.1	+	0	769				TARBP2_ENST00000456234.2_Silent_p.E324E|TARBP2_ENST00000394357.2_Silent_p.E324E|TARBP2_ENST00000266987.2_Silent_p.E345E			Q15633	TRBP2_HUMAN	TAR (HIV-1) RNA binding protein 2	NA					miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						CCACCAGGGAGGCAGCCCGTG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	39	39			NA	NA	12		NA											NA				53899866		2203	4300	6503	SO:0001624	3_prime_UTR_variant				CCDS8861.1, CCDS41791.1	12q13.13	2013-09-20	2007-06-26		ENSG00000139546	ENSG00000139546	6895	6895			11569	protein-coding gene	gene with protein product		605053	Tar (HIV-1) RNA binding protein 2		NA	2011739	Standard		NM_134323	NA	Approved		uc001sdt.3	Q15633	OTTHUMG00000169855	ENST00000552857.1:c.*136G>A	12.37:g.53899866G>A		NA	Q12878|Q8WY32|Q8WY33|Q9BRY2	37																																																																																				TARBP2-021	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000406280.1		+	ENST00000552857.1	3'UTR	SNP	12 : 53899866 - 53899866 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	55
ATP13A5	344905	broad.mit.edu	37	3	193096461	193096461	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193096461C>A	ENST00000342358.4	-	1	171	c.54G>T	c.(52-54)gaG>gaT	p.E18D		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	18					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CCAGTTCATCCTCCTCTCCCT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	160	165			NA	NA	3		NA											NA				193096461		2203	4300	6503	SO:0001583	missense			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527	344905	344905		ATPases / P-type	31789	protein-coding gene	gene with protein product					NA		Standard	NM_198505	NM_198505	NA	Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.54G>T	3.37:g.193096461C>A	ENSP00000341942:p.Glu18Asp	NA	Q6UWS4|Q6ZWL0	37	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.567558	0.45694	.	.	ENSG00000187527	ENST00000342358;ENST00000446087	T;T	0.51071	2.2;0.72	4.94	3.98	0.46160	.	0.000000	0.56097	D	0.000028	T	0.30386	0.0763	N	0.25380	0.74	0.33589	D	0.600871	B	0.24618	0.107	B	0.27262	0.078	T	0.26258	-1.0108	10	0.10111	T	0.7	-11.1331	9.829	0.40930	0.2044:0.7956:0.0:0.0	.	18	Q4VNC0	AT135_HUMAN	D	18	ENSP00000341942:E18D;ENSP00000389416:E18D	ENSP00000341942:E18D	E	-	3	2	ATP13A5	194579155	0.996000	0.38824	1.000000	0.80357	0.988000	0.76386	0.244000	0.18124	2.678000	0.91216	0.655000	0.94253	GAG	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343012.1		-	ENST00000342358.4	Missense_Mutation	SNP	3 : 193096461 - 193096461 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	791	155
TSHR	7253	broad.mit.edu	37	14	81554371	81554371	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:81554371C>A	ENST00000541158.2	+	5	713	c.391C>A	c.(391-393)Ctt>Att	p.L131I	TSHR_ENST00000554435.1_Splice_Site_p.L131I|TSHR_ENST00000554263.1_Splice_Site_p.L131I|TSHR_ENST00000342443.6_Splice_Site_p.L131I|TSHR_ENST00000298171.2_Splice_Site_p.L131I			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	131					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CCTAAAGTTCCTGTAAGTATT	0.458		NA	Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism							NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	0													96	83	88			NA	NA	14		NA											NA				81554371		2203	4300	6503	SO:0001630	splice_region_variant			AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409	7253	7253		GPCR / Class A : Gonadotropin and TSH receptors	12373	protein-coding gene	gene with protein product		603372			NA	2558651, 2610690	Standard	NM_000369	NM_001018036	NA	Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.392+1C>A	14.37:g.81554371C>A		NA	Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	37	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412972	0.83449	.	.	ENSG00000165409	ENST00000541158;ENST00000342443;ENST00000298171;ENST00000554263;ENST00000554435	D;D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18;-3.18	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.97126	0.9061	M	0.90145	3.09	0.58432	D	0.999999	D;B;D;P	0.67145	0.985;0.321;0.996;0.637	D;P;D;P	0.75484	0.986;0.631;0.973;0.546	D	0.96868	0.9637	10	0.46703	T	0.11	.	15.6391	0.76981	0.0:1.0:0.0:0.0	.	131;131;131;131	G3V2A9;F5GYU5;P16473-2;P16473	.;.;.;TSHR_HUMAN	I	131	ENSP00000441235:L131I;ENSP00000340113:L131I;ENSP00000298171:L131I;ENSP00000451202:L131I;ENSP00000450549:L131I	ENSP00000298171:L131I	L	+	1	0	TSHR	80624124	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.601000	0.61090	2.764000	0.94973	0.655000	0.94253	CTT	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413364.1	Missense_Mutation	+	ENST00000541158.2	Splice_Site	SNP	14 : 81554371 - 81554371 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	318	61
ACTRT2	140625	broad.mit.edu	37	1	2938529	2938529	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2938529C>A	ENST00000378404.2	+	1	484	c.279C>A	c.(277-279)ctC>ctA	p.L93L		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	93						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GGAAGCACCTCTTTGAGTGGG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	90	89			NA	NA	1		NA											NA				2938529		2203	4300	6503	SO:0001819	synonymous_variant			AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717	140625	140625			24026	protein-coding gene	gene with protein product		608535			NA	11750065, 12243744	Standard	NM_080431	NM_080431	NA	Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.279C>A	1.37:g.2938529C>A		NA	B1AN52|Q8NHS6|Q8TDG1	37	CCDS45.1																																																																																			ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000001331.1		+	ENST00000378404.2	Silent	SNP	1 : 2938529 - 2938529 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	503	85
MBD2	8932	broad.mit.edu	37	18	51715256	51715256	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51715256T>G	ENST00000256429.3	-	3	1056	c.828A>C	c.(826-828)gaA>gaC	p.E276D		NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	276					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	GACGTGGCTGTTCATTCATTC	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													238	222	227			NA	NA	18		NA											NA				51715256		2203	4300	6503	SO:0001583	missense			AF072242	CCDS11953.1, CCDS45871.1	18q21	2008-08-01			ENSG00000134046	ENSG00000134046	8932	8932			6917	protein-coding gene	gene with protein product		603547			NA	9774669, 10441743	Standard	NM_003927	NM_003927	NA	Approved		uc002lfg.2	Q9UBB5	OTTHUMG00000132705	ENST00000256429.3:c.828A>C	18.37:g.51715256T>G	ENSP00000256429:p.Glu276Asp	NA	O95242|Q9UIS8	37	CCDS11953.1	.	.	.	.	.	.	.	.	.	.	T	9.447	1.089478	0.20390	.	.	ENSG00000134046	ENST00000256429	D	0.98666	-5.06	5.39	1.64	0.23874	.	0.219657	0.37715	N	0.001979	D	0.92815	0.7715	N	0.03324	-0.35	0.80722	D	1	B	0.09022	0.002	B	0.17722	0.019	D	0.84547	0.0642	10	0.25106	T	0.35	-8.3278	8.2329	0.31608	0.0:0.2511:0.0:0.7488	.	276	Q9UBB5	MBD2_HUMAN	D	276	ENSP00000256429:E276D	ENSP00000256429:E276D	E	-	3	2	MBD2	49969254	0.984000	0.35163	0.999000	0.59377	0.998000	0.95712	0.065000	0.14466	0.037000	0.15575	0.460000	0.39030	GAA	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256003.2		-	ENST00000256429.3	Missense_Mutation	SNP	18 : 51715256 - 51715256 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	907	155
CASP7	840	broad.mit.edu	37	10	115485189	115485189	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115485189G>A	ENST00000345633.4	+	6	829	c.445G>A	c.(445-447)Gta>Ata	p.V149I	CASP7_ENST00000452490.2_Missense_Mutation_p.V124I|CASP7_ENST00000369315.1_Missense_Mutation_p.V149I|CASP7_ENST00000369318.3_Missense_Mutation_p.V149I|CASP7_ENST00000369331.4_Splice_Site|CASP7_ENST00000369321.2_Missense_Mutation_p.V182I	NM_033339.4	NP_203125.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	149					activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		AGAAGAAAATGTAATTTATGG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	69	69			NA	NA	10		NA											NA				115485189		2203	4300	6503	SO:0001583	missense			U37448	CCDS7580.1, CCDS7581.1, CCDS7582.1, CCDS58096.1, CCDS73200.1	10q25	2006-02-17	2005-08-17		ENSG00000165806	ENSG00000165806	840	840		Caspases	1508	protein-coding gene	gene with protein product		601761	caspase 7, apoptosis-related cysteine protease		NA	8521391, 8576161	Standard	NM_033338	NM_033338	NA	Approved	MCH3, CMH-1, ICE-LAP3	uc010qsa.3	P55210	OTTHUMG00000019076	ENST00000345633.4:c.445G>A	10.37:g.115485189G>A	ENSP00000298701:p.Val149Ile	NA	B5BU45|D3DRB8|Q13364|Q53YD5|Q5SVL0|Q5SVL3|Q96BA0	37	CCDS7581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.498|8.498	0.863645|0.863645	0.17250|0.17250	.|.	.|.	ENSG00000165806|ENSG00000165806	ENST00000369331|ENST00000429617;ENST00000369321;ENST00000345633;ENST00000369318;ENST00000369315;ENST00000452490	.|T;T;T;T;T;T	.|0.29655	.|1.56;1.56;1.56;1.56;1.56;1.56	5.68|5.68	-4.79|-4.79	0.03200|0.03200	.|Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	.|0.614966	.|0.17679	.|N	.|0.165713	.|T	.|0.16085	.|0.0387	L|L	0.35414|0.35414	1.06|1.06	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.22346	.|0.049;0.009;0.068;0.044	.|B;B;B;B	.|0.17722	.|0.012;0.017;0.011;0.019	.|T	.|0.33007	.|-0.9885	.|10	.|0.13470	.|T	.|0.59	.|.	9.6905|9.6905	0.40125|0.40125	0.0:0.517:0.2157:0.2673|0.0:0.517:0.2157:0.2673	.|.	.|124;157;182;149	.|B4DQU7;B4DWA2;P55210-3;P55210	.|.;.;.;CASP7_HUMAN	.|I	-1|149;182;149;149;149;124	.|ENSP00000400094:V149I;ENSP00000358327:V182I;ENSP00000298701:V149I;ENSP00000358324:V149I;ENSP00000358321:V149I;ENSP00000398107:V124I	.|ENSP00000298701:V149I	.|V	+|+	.|1	.|0	CASP7|CASP7	115475179|115475179	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.849000|0.849000	0.48306|0.48306	-0.444000|-0.444000	0.06854|0.06854	-0.821000|-0.821000	0.04312|0.04312	-1.245000|-1.245000	0.01525|0.01525	.|GTA	CASP7-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050439.1		+	ENST00000345633.4	Missense_Mutation	SNP	10 : 115485189 - 115485189 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	55
LPO	4025	broad.mit.edu	37	17	56326984	56326984	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56326984G>T	ENST00000262290.4	+	6	817	c.501G>T	c.(499-501)gaG>gaT	p.E167D	LPO_ENST00000421678.2_Missense_Mutation_p.E84D|LPO_ENST00000582328.1_Missense_Mutation_p.E84D|LPO_ENST00000543544.1_Missense_Mutation_p.E108D	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	167					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TGCCCGCGGAGTACGAGGACG	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	16	15			NA	NA	17		NA											NA				56326984		2154	4238	6392	SO:0001583	missense			M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	NA	4025	1.11.1.7		6678	protein-coding gene	gene with protein product		150205			NA	2222811, 8964511	Standard		NM_006151	NA	Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.501G>T	17.37:g.56326984G>T	ENSP00000262290:p.Glu167Asp	NA	Q13408|Q3KNQ2	37	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759121	0.69763	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544	T;T;T	0.68765	-0.35;-0.35;-0.35	5.45	0.544	0.17185	.	0.164449	0.52532	D	0.000062	T	0.48537	0.1505	L	0.39147	1.195	0.37990	D	0.93387	B;B;B;B	0.26363	0.046;0.021;0.147;0.147	B;B;B;B	0.33121	0.063;0.068;0.112;0.158	T	0.18335	-1.0340	10	0.15066	T	0.55	.	2.1383	0.03768	0.213:0.1522:0.4796:0.1552	.	84;84;108;167	B4DUH9;E7EMJ3;B4E1M1;P22079	.;.;.;PERL_HUMAN	D	167;84;108	ENSP00000262290:E167D;ENSP00000400245:E84D;ENSP00000445344:E108D	ENSP00000262290:E167D	E	+	3	2	LPO	53681983	0.999000	0.42202	0.998000	0.56505	0.986000	0.74619	0.577000	0.23758	0.621000	0.30232	0.655000	0.94253	GAG	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443961.1		+	ENST00000262290.4	Missense_Mutation	SNP	17 : 56326984 - 56326984 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	160	28
KCNJ13	3769	broad.mit.edu	37	2	233635952	233635952	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233635952G>A	ENST00000409779.1	-	2	257	c.121C>T	c.(121-123)Ctt>Ttt	p.L41F	GIGYF2_ENST00000409547.1_Intron|GIGYF2_ENST00000452341.2_Intron|KCNJ13_ENST00000233826.3_Missense_Mutation_p.L41F|GIGYF2_ENST00000409480.1_Intron|GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000373563.4_Intron|GIGYF2_ENST00000373566.3_Intron|KCNJ13_ENST00000410029.1_Missense_Mutation_p.L41F|GIGYF2_ENST00000409196.3_Intron	NM_001172416.1	NP_001165887.1	O60928	IRK13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	41						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		GCATCTCGAAGATATGCAAGA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	143	149			NA	NA	2		NA											NA				233635952		2203	4300	6503	SO:0001583	missense			AJ006128	CCDS2498.1, CCDS54437.1	2q37	2014-01-28			ENSG00000115474	ENSG00000115474	3769	3769		Potassium channels, Voltage-gated ion channels / Potassium channels, Inwardly rectifying	6259	protein-coding gene	gene with protein product		603208			NA	9878260, 9620703, 16382105	Standard	NM_002242	NM_002242	NA	Approved	Kir7.1, Kir1.4, LCA16	uc002vtp.3	O60928	OTTHUMG00000153292	ENST00000409779.1:c.121C>T	2.37:g.233635952G>A	ENSP00000386408:p.Leu41Phe	NA	O76023|Q8N3Y4	37	CCDS54437.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.28|18.28	3.589267|3.589267	0.66105|0.66105	.|.	.|.	ENSG00000115474|ENSG00000115474	ENST00000233826;ENST00000409779;ENST00000410029|ENST00000444142	D;D;D|.	0.96200|.	-3.94;-3.94;-3.94|.	5.54|5.54	4.66|4.66	0.58398|0.58398	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71204|0.71204	0.3312|0.3312	M|M	0.65498|0.65498	2.005|2.005	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	1.0;0.981|.	D;P|.	0.75020|.	0.985;0.88|.	T|T	0.70769|0.70769	-0.4782|-0.4782	10|5	0.48119|.	T|.	0.1|.	.|.	14.3369|14.3369	0.66598|0.66598	0.0713:0.0:0.9287:0.0|0.0713:0.0:0.9287:0.0	.|.	41;41|.	O60928;A0PGH1|.	IRK13_HUMAN;.|.	F|F	41|8	ENSP00000233826:L41F;ENSP00000386408:L41F;ENSP00000386251:L41F|.	ENSP00000233826:L41F|.	L|S	-|-	1|2	0|0	KCNJ13|KCNJ13	233344196|233344196	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.957000|0.957000	0.61999|0.61999	4.747000|4.747000	0.62141|0.62141	1.338000|1.338000	0.45544|0.45544	-0.136000|-0.136000	0.14681|0.14681	CTT|TCT	KCNJ13-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330576.1		-	ENST00000409779.1	Missense_Mutation	SNP	2 : 233635952 - 233635952 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	295	100
CYP2B6	1555	broad.mit.edu	37	19	41518231	41518231	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41518231G>A	ENST00000324071.4	+	7	1000	c.993G>A	c.(991-993)gtG>gtA	p.V331V	CYP2B6_ENST00000593831.1_Silent_p.V95V|CYP2B6_ENST00000330446.5_Silent_p.V131V	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	331					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	TTGAACAGGTGATTGGCCCAC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	68	74			NA	NA	19		NA											NA				41518231		2203	4300	6503	SO:0001819	synonymous_variant			AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408	1555	1555		Cytochrome P450s	2615	protein-coding gene	gene with protein product		123930	cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6, cytochrome P450, family 2, subfamily B, cytochrome P450, subfamily IIB (phenobarbital-inducible)	CYP2B	NA	7668294, 15128046	Standard	NM_000767	NM_000767	NA	Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.993G>A	19.37:g.41518231G>A		NA	Q2V565|Q9UK46	37	CCDS12570.1																																																																																			CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463260.1		+	ENST00000324071.4	Silent	SNP	19 : 41518231 - 41518231 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	267	63
MEP1A	4224	broad.mit.edu	37	6	46794235	46794235	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46794235G>A	ENST00000230588.4	+	9	932	c.923G>A	c.(922-924)tGc>tAc	p.C308Y		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	308	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TTGGGACAATGCACAGGTCAG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	131	135			NA	NA	6		NA											NA				46794235		2203	4300	6503	SO:0001583	missense				CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	4224	4224	3.4.24.18		7015	protein-coding gene	gene with protein product		600388			NA	7774936	Standard	NM_005588	NM_005588	NA	Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.923G>A	6.37:g.46794235G>A	ENSP00000230588:p.Cys308Tyr	NA	A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	37	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054545	0.75960	.	.	ENSG00000112818	ENST00000230588	T	0.24723	1.84	5.9	5.9	0.94986	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.85682	D	0.000000	T	0.57799	0.2078	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66168	-0.5991	10	0.87932	D	0	-26.3005	20.2822	0.98520	0.0:0.0:1.0:0.0	.	336;308	B7ZL91;Q16819	.;MEP1A_HUMAN	Y	308	ENSP00000230588:C308Y	ENSP00000230588:C308Y	C	+	2	0	MEP1A	46902194	1.000000	0.71417	0.997000	0.53966	0.513000	0.34164	7.554000	0.82212	2.806000	0.96561	0.655000	0.94253	TGC	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040803.1		+	ENST00000230588.4	Missense_Mutation	SNP	6 : 46794235 - 46794235 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	461	89
MUC5AC	4586	broad.mit.edu	37	11	1157814	1157814	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1157814A>G	ENST00000356191.2	+	13	872	c.872A>G	c.(871-873)gAc>gGc	p.D291G						mucin 5AC, oligomeric mucus/gel-forming	NA										NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		TGCAGGCAAGACCTCTGCTTC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	74	74			NA	NA	11		NA											NA				1157814		875	1990	2865	SO:0001583	missense			AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182	4586	4586		Mucins	7515	protein-coding gene	gene with protein product		158373	mucin 5, subtypes A and C, tracheobronchial/gastric		NA	7826332, 9588204	Standard	XM_001130382	XM_006709945	NA	Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.872A>G	11.37:g.1157814A>G	ENSP00000348519:p.Asp291Gly	NA		37		.	.	.	.	.	.	.	.	.	.	a	13.34	2.206492	0.39003	.	.	ENSG00000215182	ENST00000534821;ENST00000356191	T;T	0.80214	-1.35;-1.35	3.19	2.05	0.26809	.	.	.	.	.	D	0.88880	0.6557	M	0.86953	2.85	.	.	.	D	0.89917	1.0	D	0.97110	1.0	D	0.89615	0.3844	8	0.87932	D	0	.	8.0238	0.30425	0.8997:0.0:0.1003:0.0	.	294	A7Y9J9	.	G	294;291	ENSP00000435591:D294G;ENSP00000348519:D291G	ENSP00000348519:D291G	D	+	2	0	MUC5AC	1147814	1.000000	0.71417	0.077000	0.20336	0.161000	0.22273	8.272000	0.89885	0.462000	0.27095	0.358000	0.22013	GAC	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding			+	ENST00000356191.2	Missense_Mutation	SNP	11 : 1157814 - 1157814 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	398	61
EXTL3	2137	broad.mit.edu	37	8	28574117	28574117	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28574117A>G	ENST00000220562.4	+	3	1443	c.541A>G	c.(541-543)Aac>Gac	p.N181D	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	181						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CCGGCTACACAACTGCTTTGA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	84	83			NA	NA	8		NA											NA				28574117		2203	4300	6503	SO:0001583	missense			U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2137	2137	2.4.1.223	Exostosin glycosyltransferase family	3518	protein-coding gene	gene with protein product	REG receptor, glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase	605744	exostoses (multiple)-like 3		NA	9479495, 9450183, 11257457	Standard	NM_001440	NM_001440	NA	Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.541A>G	8.37:g.28574117A>G	ENSP00000220562:p.Asn181Asp	NA	D3DST8|O00225|Q53XT3	37	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	A	10.91	1.484444	0.26598	.	.	ENSG00000012232	ENST00000220562	D	0.95238	-3.65	5.02	3.87	0.44632	.	0.157871	0.56097	D	0.000027	D	0.89663	0.6780	L	0.39898	1.24	0.38076	D	0.936535	B	0.14012	0.009	B	0.12156	0.007	D	0.85933	0.1453	9	.	.	.	-21.2576	10.1276	0.42658	0.9215:0.0:0.0785:0.0	.	181	O43909	EXTL3_HUMAN	D	181	ENSP00000220562:N181D	.	N	+	1	0	EXTL3	28630036	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.526000	0.53509	1.903000	0.55091	0.397000	0.26171	AAC	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219987.3		+	ENST00000220562.4	Missense_Mutation	SNP	8 : 28574117 - 28574117 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	542	53
CCT3	7203	broad.mit.edu	37	1	156303409	156303409	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156303409T>C	ENST00000295688.3	-	5	513	c.233A>G	c.(232-234)aAg>aGg	p.K78R	CCT3_ENST00000368261.3_Missense_Mutation_p.K33R|CCT3_ENST00000368259.2_Missense_Mutation_p.K40R|CCT3_ENST00000472765.2_Missense_Mutation_p.K33R|CCT3_ENST00000368256.3_5'UTR	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	78					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GATCATGGACTTGGCCGCTGG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	121	121			NA	NA	1		NA											NA				156303409		2203	4300	6503	SO:0001583	missense			BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468	7203	7203		Heat Shock Proteins / Chaperonins	1616	protein-coding gene	gene with protein product		600114		TRIC5	NA	8110840	Standard	NM_005998	NM_005998	NA	Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.233A>G	1.37:g.156303409T>C	ENSP00000295688:p.Lys78Arg	NA	Q5SZY1|Q9BR64	37	CCDS1140.2	.	.	.	.	.	.	.	.	.	.	T	31	5.095880	0.94197	.	.	ENSG00000163468	ENST00000295688;ENST00000368259;ENST00000368261;ENST00000472765;ENST00000413555;ENST00000496684;ENST00000446905;ENST00000478640;ENST00000415548	T;T;T;T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.88317	0.6404	M	0.84948	2.725	0.58432	D	0.999998	D;D;D	0.89917	0.996;1.0;0.994	D;D;D	0.97110	0.929;1.0;0.984	D	0.90355	0.4369	10	0.87932	D	0	-18.78	12.6112	0.56552	0.0:0.0:0.0:1.0	.	40;78;78	P49368-2;E9PAQ6;P49368	.;.;TCPG_HUMAN	R	78;40;33;33;102;78;64;57;78	ENSP00000295688:K78R;ENSP00000357242:K40R;ENSP00000357244:K33R;ENSP00000431543:K33R;ENSP00000413308:K102R;ENSP00000434232:K78R;ENSP00000388799:K64R;ENSP00000435026:K57R;ENSP00000413431:K78R	ENSP00000295688:K78R	K	-	2	0	CCT3	154570033	1.000000	0.71417	0.990000	0.47175	0.990000	0.78478	7.394000	0.79862	2.234000	0.73211	0.528000	0.53228	AAG	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060602.3		-	ENST00000295688.3	Missense_Mutation	SNP	1 : 156303409 - 156303409 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	529	11
SAMD8	142891	broad.mit.edu	37	10	76936003	76936003	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76936003T>C	ENST00000372687.4	+	5	1057	c.972T>C	c.(970-972)cgT>cgC	p.R324R	SAMD8_ENST00000372690.3_Intron|SAMD8_ENST00000542569.1_Intron			Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	NA					sphingomyelin biosynthetic process	integral to membrane				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CTTCTATGCGTATTAGGTAAC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													193	169	177			NA	NA	10		NA											NA				76936003		2203	4300	6503	SO:0001819	synonymous_variant			AK057811	CCDS7347.1, CCDS53543.1	10q22.3	2013-01-10			ENSG00000156671	ENSG00000156671	142891	142891		Sterile alpha motif (SAM) domain containing	26320	protein-coding gene	gene with protein product		611575			NA		Standard	NM_144660	NM_144660	NA	Approved	FLJ25082	uc001jwx.2	Q96LT4	OTTHUMG00000018515	ENST00000372687.4:c.972T>C	10.37:g.76936003T>C		NA	Q5JSC5|Q5JSC8|Q66K52	37	CCDS7347.1																																																																																			SAMD8-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048780.2		+	ENST00000372687.4	Silent	SNP	10 : 76936003 - 76936003 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	712	113
RUFY3	22902	broad.mit.edu	37	4	71648856	71648856	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71648856C>T	ENST00000226328.4	+	9	1506	c.943C>T	c.(943-945)Cga>Tga	p.R315*	RUFY3_ENST00000502653.1_Nonsense_Mutation_p.R262*|RUFY3_ENST00000536664.1_Nonsense_Mutation_p.R299*|RUFY3_ENST00000417478.2_Nonsense_Mutation_p.R375*|RUFY3_ENST00000381006.3_Nonsense_Mutation_p.R315*	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	315					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			AGAAATGGAACGAGTTAAAGA	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	67	67			NA	NA	4		NA											NA				71648856		2203	4300	6503	SO:0001587	stop_gained			AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189	22902	22902		Zinc fingers, FYVE domain containing	30285	protein-coding gene	gene with protein product	single axon-related 1	611194			NA	17439943	Standard	NM_014961	NM_001130709	NA	Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.943C>T	4.37:g.71648856C>T	ENSP00000226328:p.Arg315*	NA	B3KM25|B4DYW7|D9N163|O94948|Q9UI00	37	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	C	37	6.280902	0.97440	.	.	ENSG00000018189	ENST00000417478;ENST00000381006;ENST00000226328;ENST00000536664;ENST00000502653	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-10.6392	14.6544	0.68823	0.1453:0.8547:0.0:0.0	.	.	.	.	X	375;315;315;299;262	.	ENSP00000226328:R315X	R	+	1	2	RUFY3	71867720	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.594000	0.36697	2.683000	0.91414	0.655000	0.94253	CGA	RUFY3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252161.2		+	ENST00000226328.4	Nonsense_Mutation	SNP	4 : 71648856 - 71648856 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	213	33
TCTEX1D4	343521	broad.mit.edu	37	1	45271752	45271752	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45271752C>T	ENST00000339355.2	-	1	595	c.589G>A	c.(589-591)Gat>Aat	p.D197N	TCTEX1D4_ENST00000372200.1_Missense_Mutation_p.D197N			Q5JR98	TC1D4_HUMAN	Tctex1 domain containing 4	197										pancreas(1)	1	Acute lymphoblastic leukemia(166;0.155)					GCCAGCCCATCGCGCGCCACG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	19	18			NA	NA	1		NA											NA				45271752		2202	4297	6499	SO:0001583	missense			BC092499	CCDS30699.1	1p34.1	2007-12-17				ENSG00000188396	343521	343521			32315	protein-coding gene	gene with protein product	novel Tctex-1 family domain-containing protein	611713			NA	12477932	Standard	NM_001013632	XM_006710614	NA	Approved		uc001cmp.3	Q5JR98		ENST00000339355.2:c.589G>A	1.37:g.45271752C>T	ENSP00000341803:p.Asp197Asn	NA		37	CCDS30699.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.794210	0.70452	.	.	ENSG00000188396	ENST00000339355;ENST00000372200	T;T	0.70399	-0.48;-0.48	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000002	D	0.88081	0.6341	M	0.93978	3.48	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.90925	0.4786	10	0.87932	D	0	-5.9617	15.9529	0.79859	0.0:1.0:0.0:0.0	.	197	Q5JR98	TC1D4_HUMAN	N	197	ENSP00000341803:D197N;ENSP00000361274:D197N	ENSP00000341803:D197N	D	-	1	0	TCTEX1D4	45044339	0.999000	0.42202	0.156000	0.22583	0.084000	0.17831	5.615000	0.67702	2.540000	0.85666	0.555000	0.69702	GAT	TCTEX1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000023733.1		-	ENST00000339355.2	Missense_Mutation	SNP	1 : 45271752 - 45271752 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	142	12
FBXO15	201456	broad.mit.edu	37	18	71796836	71796836	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:71796836C>A	ENST00000419743.2	-	5	668	c.589G>T	c.(589-591)Ggt>Tgt	p.G197C	FBXO15_ENST00000269500.5_Missense_Mutation_p.G121C	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	121										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		ATTGCCCAACCTAAACCAAAT	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	57	56			NA	NA	18		NA											NA				71796836		2203	4299	6502	SO:0001583	missense			AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665	201456	201456		F-boxes /  other	13617	protein-coding gene	gene with protein product		609093	F-box only protein 15		NA	12665572	Standard	NM_152676	NM_152676	NA	Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.589G>T	18.37:g.71796836C>A	ENSP00000393154:p.Gly197Cys	NA		37	CCDS45884.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.396078	0.62177	.	.	ENSG00000141665	ENST00000269500;ENST00000419743	T;T	0.46063	0.9;0.88	5.85	2.69	0.31865	.	0.424638	0.28016	N	0.016924	T	0.48447	0.1500	L	0.57536	1.79	0.26728	N	0.970651	D;D	0.69078	0.997;0.993	P;P	0.57283	0.817;0.628	T	0.37549	-0.9701	10	0.72032	D	0.01	-15.6153	5.641	0.17565	0.0:0.5174:0.0:0.4826	.	197;121	B3KST3;Q8NCQ5	.;FBX15_HUMAN	C	121;197	ENSP00000269500:G121C;ENSP00000393154:G197C	ENSP00000269500:G121C	G	-	1	0	FBXO15	69947816	0.140000	0.22579	0.974000	0.42286	0.931000	0.56810	0.702000	0.25631	0.799000	0.34018	0.655000	0.94253	GGT	FBXO15-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444223.1		-	ENST00000419743.2	Missense_Mutation	SNP	18 : 71796836 - 71796836 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	207	38
CDK5RAP1	51654	broad.mit.edu	37	20	31973465	31973465	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31973465A>G	ENST00000357886.4	-	7	1020	c.867T>C	c.(865-867)ctT>ctC	p.L289L	CDK5RAP1_ENST00000473997.1_Silent_p.L199L|CDK5RAP1_ENST00000477105.1_5'UTR|CDK5RAP1_ENST00000544843.1_Silent_p.L289L|CDK5RAP1_ENST00000339269.5_Silent_p.L289L|CDK5RAP1_ENST00000346416.2_Silent_p.L289L			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	289					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CCTGCTCAGAAAGCTTCTTCA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	103	105			NA	NA	20		NA											NA				31973465		2203	4300	6503	SO:0001819	synonymous_variant			AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391	51654	51654			15880	protein-coding gene	gene with protein product		608200	chromosome 20 open reading frame 34	C20orf34	NA	10721722, 11882646, 15329498	Standard	NM_016408	NM_016408	NA	Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.867T>C	20.37:g.31973465A>G		NA	A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	37																																																																																				CDK5RAP1-011	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000078697.1		-	ENST00000357886.4	Silent	SNP	20 : 31973465 - 31973465 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	486	45
IL4I1	259307	broad.mit.edu	37	19	50393095	50393095	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50393095C>T	ENST00000595948.1	-	10	2222	c.1602G>A	c.(1600-1602)tcG>tcA	p.S534S	IL4I1_ENST00000341114.3_Silent_p.S534S|IL4I1_ENST00000391826.2_Silent_p.S512S	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	512						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		TGGCCGTGTCCGATGCAGGCC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	44	44			NA	NA	19		NA											NA				50393095		2202	4299	6501	SO:0001819	synonymous_variant			AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951	259307	259307			19094	protein-coding gene	gene with protein product		609742			NA	12031486	Standard		NM_152899	NA	Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000595948.1:c.1602G>A	19.37:g.50393095C>T		NA	Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	37	CCDS12786.1																																																																																			IL4I1-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466416.1		-	ENST00000595948.1	Silent	SNP	19 : 50393095 - 50393095 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	306	55
C2CD5	9847	broad.mit.edu	37	12	22602810	22602810	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:22602810T>G	ENST00000333957.4	-	25	3142	c.2887A>C	c.(2887-2889)Aat>Cat	p.N963H	C2CD5_ENST00000536386.1_Missense_Mutation_p.N1016H|C2CD5_ENST00000544930.1_Missense_Mutation_p.N819H|C2CD5_ENST00000542676.1_Missense_Mutation_p.N1014H|C2CD5_ENST00000446597.1_Missense_Mutation_p.N1014H|C2CD5_ENST00000545552.1_Missense_Mutation_p.N1017H|C2CD5_ENST00000396028.2_Missense_Mutation_p.N1005H	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5	NA											NA						CCACTTACATTTATAAGACAC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	146	155			NA	NA	12		NA											NA				22602810		2203	4300	6503	SO:0001583	missense			AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731	9847	9847			29062	protein-coding gene	gene with protein product	138 kDa C2 domain-containing phosphoprotein		KIAA0528	KIAA0528	NA	21907143	Standard	NM_014802	XM_005253538	NA	Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.2887A>C	12.37:g.22602810T>G	ENSP00000334229:p.Asn963His	NA		37	CCDS31758.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.85|18.85	3.711795|3.711795	0.68730|0.68730	.|.	.|.	ENSG00000111731|ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930|ENST00000539615	T;T;T;T;T;T|.	0.66460|.	-0.21;-0.18;-0.19;-0.18;-0.18;-0.16|.	4.48|4.48	4.48|4.48	0.54585|0.54585	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.60932|.	0.2307|.	L|L	0.46157|0.46157	1.445|1.445	0.53005|0.53005	D|D	0.999969|0.999969	P;P;D;D;P|.	0.89917|.	0.775;0.618;0.958;1.0;0.578|.	P;B;P;D;B|.	0.91635|.	0.481;0.207;0.869;0.999;0.159|.	T|.	0.59156|.	-0.7507|.	10|.	0.49607|.	T|.	0.09|.	-22.3249|-22.3249	14.2395|14.2395	0.65948|0.65948	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1016;1014;819;1005;963|.	F5H2A1;B4DRN7;F5H3N1;Q86YS7-2;Q86YS7|.	.;.;.;.;K0528_HUMAN|.	H|Y	963;1014;1016;1005;1014;1017;819|263	ENSP00000334229:N963H;ENSP00000388756:N1014H;ENSP00000439392:N1016H;ENSP00000379345:N1005H;ENSP00000441951:N1014H;ENSP00000443204:N1017H|.	ENSP00000334229:N963H|.	N|X	-|-	1|3	0|2	KIAA0528|KIAA0528	22494077|22494077	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.910000|0.910000	0.53928|0.53928	6.748000|6.748000	0.74877|0.74877	1.990000|1.990000	0.58119|0.58119	0.533000|0.533000	0.62120|0.62120	AAT|TAA	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402257.1		-	ENST00000333957.4	Missense_Mutation	SNP	12 : 22602810 - 22602810 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	596	112
DIP2C	22982	broad.mit.edu	37	10	410353	410353	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:410353G>A	ENST00000280886.6	-	20	2525	c.2438C>T	c.(2437-2439)gCg>gTg	p.A813V	DIP2C_ENST00000540204.1_Missense_Mutation_p.A134V|DIP2C_ENST00000381496.3_3'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	813						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TACGGCCAGCGCAGTGGCCAC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	66	66			NA	NA	10		NA											NA				410353		2203	4300	6503	SO:0001583	missense			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240	22982	22982			29150	protein-coding gene	gene with protein product		611380	KIAA0934	KIAA0934	NA		Standard	NM_014974	NM_014974	NA	Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.2438C>T	10.37:g.410353G>A	ENSP00000280886:p.Ala813Val	NA	Q5SS78	37	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.117828	0.37339	.	.	ENSG00000151240	ENST00000280886;ENST00000540204	T;T	0.39056	2.98;1.1	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.50888	0.1642	L	0.39245	1.2	0.80722	D	1	D;B	0.67145	0.996;0.089	D;B	0.66196	0.942;0.037	T	0.36359	-0.9751	10	0.02654	T	1	-30.4331	19.1516	0.93491	0.0:0.0:1.0:0.0	.	134;813	B4DPI5;Q9Y2E4	.;DIP2C_HUMAN	V	813;134	ENSP00000280886:A813V;ENSP00000443826:A134V	ENSP00000280886:A813V	A	-	2	0	DIP2C	400353	1.000000	0.71417	0.671000	0.29857	0.184000	0.23303	9.869000	0.99810	2.523000	0.85059	0.455000	0.32223	GCG	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046389.1		-	ENST00000280886.6	Missense_Mutation	SNP	10 : 410353 - 410353 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	517	90
MACF1	23499	broad.mit.edu	37	1	39896528	39896528	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39896528C>A	ENST00000372915.3	+	64	17060	c.16973C>A	c.(16972-16974)aCt>aAt	p.T5658N	MACF1_ENST00000289893.4_Missense_Mutation_p.T4202N|MACF1_ENST00000567887.1_Missense_Mutation_p.T5799N|MACF1_ENST00000545844.1_Missense_Mutation_p.T3700N|MACF1_ENST00000361689.2_Missense_Mutation_p.T3700N|MACF1_ENST00000564288.1_Missense_Mutation_p.T5762N|MACF1_ENST00000539005.1_Missense_Mutation_p.T3570N|MACF1_ENST00000317713.7_Missense_Mutation_p.T3700N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5658					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTCAGTGACACTATTGGACAA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	144	151			NA	NA	1		NA											NA				39896528		2203	4300	6503	SO:0001583	missense			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603	23499	23499		EF-hand domain containing	13664	protein-coding gene	gene with protein product	actin cross-linking factor, 620 kDa actin binding protein, macrophin 1, trabeculin-alpha, actin cross-linking family protein 7	608271			NA	7635207, 10529403	Standard	NM_033044	NM_012090	NA	Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.16973C>A	1.37:g.39896528C>A	ENSP00000362006:p.Thr5658Asn	NA	E9PJT0|O75053|Q5VW20|Q8WXY2|Q9H540|Q9UKP0|Q9ULG9	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.265183|4.265183	0.80358|0.80358	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.35421	.|1.32;1.31;1.32;1.31;1.32;1.32	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|0.088123	.|0.49305	.|D	.|0.000148	T|T	0.51329|0.51329	0.1668|0.1668	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|P;D;P	.|0.53151	.|0.942;0.958;0.928	.|P;P;P	.|0.54346	.|0.561;0.749;0.614	T|T	0.47484|0.47484	-0.9114|-0.9114	5|10	.|0.56958	.|D	.|0.05	.|.	19.9093|19.9093	0.97021|0.97021	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|5658;3700;3644	.|Q9UPN3;F8W8Q1;Q9UPN3-3	.|MACF1_HUMAN;.;.	Q|N	2703|3700;5658;3700;3700;3570;4202	.|ENSP00000439537:T3700N;ENSP00000362006:T5658N;ENSP00000354573:T3700N;ENSP00000313438:T3700N;ENSP00000444364:T3570N;ENSP00000289893:T4202N	.|ENSP00000289893:T4202N	H|T	+|+	3|2	2|0	MACF1|MACF1	39669115|39669115	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.997000|0.997000	0.91878|0.91878	3.956000|3.956000	0.56722|0.56722	2.785000|2.785000	0.95823|0.95823	0.655000|0.655000	0.94253|0.94253	CAC|ACT	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000392096.1		+	ENST00000372915.3	Missense_Mutation	SNP	1 : 39896528 - 39896528 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	21
MS4A2	2206	broad.mit.edu	37	11	59857283	59857283	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59857283G>A	ENST00000278888.3	+	2	277	c.175G>A	c.(175-177)Gag>Aag	p.E59K		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	59					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	AAAAGAGCAGGAGTTCCTGGG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	68	68			NA	NA	11		NA											NA				59857283		2201	4295	6496	SO:0001583	missense			M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534	2206	2206			7316	protein-coding gene	gene with protein product	Fc fragment of IgE, high affinity I, receptor for; beta polypeptide	147138	IgE responsiveness (atopic), membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)	FCER1B, IGER, APY	NA	1386024	Standard		NM_000139	NA	Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.175G>A	11.37:g.59857283G>A	ENSP00000278888:p.Glu59Lys	NA	Q54A81	37	CCDS7980.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.761028	0.49468	.	.	ENSG00000149534	ENST00000278888	T	0.14266	2.52	4.41	2.47	0.30058	.	0.417922	0.25402	N	0.030940	T	0.13841	0.0335	L	0.32530	0.975	0.34137	D	0.665927	P	0.48834	0.916	P	0.48166	0.569	T	0.22243	-1.0222	9	.	.	.	-17.7271	10.8682	0.46869	0.0:0.3632:0.6368:0.0	.	59	Q01362	FCERB_HUMAN	K	59	ENSP00000278888:E59K	.	E	+	1	0	MS4A2	59613859	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	2.379000	0.44318	0.748000	0.32831	0.650000	0.86243	GAG	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393844.1		+	ENST00000278888.3	Missense_Mutation	SNP	11 : 59857283 - 59857283 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	304	72
FBXW2	26190	broad.mit.edu	37	9	123538497	123538497	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123538497G>A	ENST00000608872.1	-	5	880	c.693C>T	c.(691-693)agC>agT	p.S231S	FBXW2_ENST00000493559.1_5'UTR|FBXW2_ENST00000340778.5_Silent_p.S166S	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	NA					proteolysis		protein binding|ubiquitin-protein ligase activity			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						TGTAGTCCACGCTAAATACTA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	103	103			NA	NA	9		NA											NA				123538497		2031	4194	6225	SO:0001819	synonymous_variant			AF129531	CCDS43872.1	9q34	2013-01-09	2007-02-08		ENSG00000119402	ENSG00000119402	NA	26190		F-boxes / WD-40 domains, WD repeat domain containing	13608	protein-coding gene	gene with protein product		609071	F-box and WD-40 domain protein 2		NA	10531035, 10828603	Standard		NM_012164	NA	Approved	FBW2, Md6, Fwd2	uc004bkm.1	Q9UKT8	OTTHUMG00000020576	ENST00000608872.1:c.693C>T	9.37:g.123538497G>A		NA	B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3	37	CCDS43872.1																																																																																			FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053834.2		-	ENST00000608872.1	Silent	SNP	9 : 123538497 - 123538497 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	514	37
ALPK3	57538	broad.mit.edu	37	15	85407773	85407773	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85407773G>A	ENST00000258888.5	+	12	5373	c.5206G>A	c.(5206-5208)Gaa>Aaa	p.E1736K		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1736	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTGTTCTCGGGAATGGGGCTG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	96	101			NA	NA	15		NA											NA				85407773		2203	4299	6502	SO:0001583	missense			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383	57538	57538		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	17574	protein-coding gene	gene with protein product	myocyte induction differentiation originator, muscle alpha-kinase				NA	10021370	Standard	NM_020778	NM_020778	NA	Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.5206G>A	15.37:g.85407773G>A	ENSP00000258888:p.Glu1736Lys	NA	Q9P2L6	37	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678367	0.88542	.	.	ENSG00000136383	ENST00000258888	T	0.06449	3.3	5.62	4.69	0.59074	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.642960	0.15699	N	0.249015	T	0.09247	0.0228	N	0.22421	0.69	0.28334	N	0.921641	B;P	0.40534	0.437;0.72	B;P	0.47118	0.257;0.538	T	0.08126	-1.0737	10	0.72032	D	0.01	-1.4623	13.9844	0.64324	0.0:0.1588:0.8412:0.0	.	37;1736	B4DU37;Q96L96	.;ALPK3_HUMAN	K	1736	ENSP00000258888:E1736K	ENSP00000258888:E1736K	E	+	1	0	ALPK3	83208777	1.000000	0.71417	0.972000	0.41901	0.918000	0.54935	3.720000	0.54933	1.335000	0.45486	0.563000	0.77884	GAA	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000308997.1		+	ENST00000258888.5	Missense_Mutation	SNP	15 : 85407773 - 85407773 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	476	87
OVOL1	5017	broad.mit.edu	37	11	65562523	65562523	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65562523G>A	ENST00000335987.3	+	4	867	c.515G>A	c.(514-516)cGg>cAg	p.R172Q	OVOL1_ENST00000532448.1_Missense_Mutation_p.R110Q	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN	ovo-like zinc finger 1	172					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		ACAGGCGTGCGGCCCTACAAG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	39	41			NA	NA	11		NA											NA				65562523		2201	4297	6498	SO:0001583	missense			BC059408	CCDS8112.1	11q13	2013-10-17	2013-10-17		ENSG00000172818	ENSG00000172818	5017	5017		Zinc fingers, C2H2-type	8525	protein-coding gene	gene with protein product		602313	ovo (Drosophila) homolog-like 1, ovo-like 1(Drosophila)		NA	9383297	Standard	NM_004561	NM_004561	NA	Approved	HOVO1	uc001ofp.3	O14753	OTTHUMG00000166600	ENST00000335987.3:c.515G>A	11.37:g.65562523G>A	ENSP00000337862:p.Arg172Gln	NA	Q6PCB1	37	CCDS8112.1	.	.	.	.	.	.	.	.	.	.	G	34	5.313980	0.95655	.	.	ENSG00000172818	ENST00000335987;ENST00000532448	T;T	0.19806	2.12;2.12	4.89	4.89	0.63831	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.086427	0.47852	N	0.000209	T	0.44519	0.1297	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.42050	-0.9474	10	0.87932	D	0	-40.47	15.5686	0.76313	0.0:0.0:1.0:0.0	.	172	O14753	OVOL1_HUMAN	Q	172;110	ENSP00000337862:R172Q;ENSP00000434220:R110Q	ENSP00000337862:R172Q	R	+	2	0	OVOL1	65319099	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.787000	0.99055	2.266000	0.75297	0.561000	0.74099	CGG	OVOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390690.1		+	ENST00000335987.3	Missense_Mutation	SNP	11 : 65562523 - 65562523 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	168	37
ST6GALNAC2	10610	broad.mit.edu	37	17	74574856	74574856	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74574856C>T	ENST00000225276.5	-	2	487	c.168G>A	c.(166-168)tcG>tcA	p.S56S	ST6GALNAC2_ENST00000586520.1_5'UTR	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	56					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						TCCAAGAATTCGATGCCTTGG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	168	141	150		168	-3.3	0	17		150	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ST6GALNAC2	NM_006456.2		0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077		56/375	74574856	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			U14550	CCDS11747.1	17q25.1	2013-03-01	2003-12-05	2005-02-07	ENSG00000070731	ENSG00000070731	10610	10610	2.4.99.7	Sialyltransferases	10867	protein-coding gene	gene with protein product		610137	sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase), sialyltransferase-like 1	SIAT7, SIAT7B, SIATL1	NA	11984005	Standard	NM_006456	NM_006456	NA	Approved	ST6GalNAII, STHM	uc002jsg.4	Q9UJ37	OTTHUMG00000180301	ENST00000225276.5:c.168G>A	17.37:g.74574856C>T		NA	Q12971	37	CCDS11747.1																																																																																			ST6GALNAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450650.1		-	ENST00000225276.5	Silent	SNP	17 : 74574856 - 74574856 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	291	54
PCF11	51585	broad.mit.edu	37	11	82880369	82880369	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82880369C>T	ENST00000298281.4	+	8	3444	c.2992C>T	c.(2992-2994)Cct>Tct	p.P998S		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	998	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GTTTGAAGGCCCTTTAGTCCA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	93	93			NA	NA	11		NA											NA				82880369		1919	4126	6045	SO:0001583	missense			AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494	51585	51585			30097	protein-coding gene	gene with protein product		608876	PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae), PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)		NA	11060040	Standard	NM_015885	NM_015885	NA	Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.2992C>T	11.37:g.82880369C>T	ENSP00000298281:p.Pro998Ser	NA	A6H8W7|O43671|Q6P0X8	37	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.856840	0.32791	.	.	ENSG00000165494	ENST00000298281	T	0.34667	1.35	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000015	T	0.50650	0.1628	L	0.50333	1.59	0.50632	D	0.999881	D	0.62365	0.991	P	0.55667	0.781	T	0.26538	-1.0100	9	.	.	.	-10.5135	20.4008	0.98991	0.0:1.0:0.0:0.0	.	998	O94913	PCF11_HUMAN	S	998	ENSP00000298281:P998S	.	P	+	1	0	PCF11	82558017	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.732000	0.62029	2.826000	0.97356	0.655000	0.94253	CCT	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392548.2		+	ENST00000298281.4	Missense_Mutation	SNP	11 : 82880369 - 82880369 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	255	49
RFX6	222546	broad.mit.edu	37	6	117203536	117203536	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117203536C>T	ENST00000332958.2	+	4	527	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	171					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTAGACAATTCGCCAGAAGTT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	87	90			NA	NA	6		NA											NA				117203536		2203	4300	6503	SO:0001583	missense			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002	222546	222546			21478	protein-coding gene	gene with protein product		612659	regulatory factor X domain containing 1	RFXDC1	NA		Standard	NM_173560	NM_173560	NA	Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.511C>T	6.37:g.117203536C>T	ENSP00000332208:p.Arg171Cys	NA	Q5T6B3	37	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	30	5.050990	0.93740	.	.	ENSG00000185002	ENST00000332958	D	0.86694	-2.16	5.67	5.67	0.87782	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.000000	0.85682	D	0.000000	D	0.94218	0.8144	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94452	0.7668	10	0.87932	D	0	-16.0365	19.7727	0.96373	0.0:1.0:0.0:0.0	.	171	Q8HWS3	RFX6_HUMAN	C	171	ENSP00000332208:R171C	ENSP00000332208:R171C	R	+	1	0	RFX6	117310229	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.760000	0.68793	2.689000	0.91719	0.650000	0.86243	CGC	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041970.2		+	ENST00000332958.2	Missense_Mutation	SNP	6 : 117203536 - 117203536 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	257	41
MYLK2	85366	broad.mit.edu	37	20	30411332	30411332	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30411332G>A	ENST00000375994.2	+	4	1098	c.825G>A	c.(823-825)agG>agA	p.R275R	MYLK2_ENST00000375985.4_Silent_p.R275R			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	275					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TGGAGCTGAGGACCGGGAATG	0.622		NA									OREG0025856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	102	100			NA	NA	20		NA											NA				30411332		2203	4300	6503	SO:0001819	synonymous_variant			AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	85366	85366	2.7.11.18		16243	protein-coding gene	gene with protein product	skeletal muscle myosin light chain kinase	606566	myosin light chain kinase 2, skeletal muscle		NA		Standard	NM_033118	NM_033118	NA	Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.825G>A	20.37:g.30411332G>A		817	Q569L1|Q96I84	37	CCDS13191.1																																																																																			MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078583.2		+	ENST00000375994.2	Silent	SNP	20 : 30411332 - 30411332 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	865	35
CAPN15	6650	broad.mit.edu	37	16	601376	601376	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:601376G>A	ENST00000219611.2	+	8	2504	c.2141G>A	c.(2140-2142)cGc>cAc	p.R714H	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1			calpain 15	NA											NA						CTGGGCCTGCGCCCCCGGCAT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	61	58			NA	NA	16		NA											NA				601376		2200	4297	6497	SO:0001583	missense			U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326	6650	6650			11182	protein-coding gene	gene with protein product		603267	small optic lobes (Drosophila) homolog, small optic lobes homolog (Drosophila)	SOLH	NA	9722942	Standard	NM_005632	NM_005632	NA	Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.2141G>A	16.37:g.601376G>A	ENSP00000219611:p.Arg714His	NA		37	CCDS10410.1	.	.	.	.	.	.	.	.	.	.	g	29.2	4.989237	0.93106	.	.	ENSG00000103326	ENST00000219611	D	0.87809	-2.3	5.36	5.36	0.76844	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.91774	0.7398	L	0.49256	1.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92401	0.5929	10	0.72032	D	0.01	.	17.6567	0.88180	0.0:0.0:1.0:0.0	.	714	O75808	CAN15_HUMAN	H	714	ENSP00000219611:R714H	ENSP00000219611:R714H	R	+	2	0	SOLH	541377	1.000000	0.71417	0.995000	0.50966	0.793000	0.44817	9.745000	0.98856	2.509000	0.84616	0.556000	0.70494	CGC	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239271.1		+	ENST00000219611.2	Missense_Mutation	SNP	16 : 601376 - 601376 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	491	93
ARID2	196528	broad.mit.edu	37	12	46254587	46254587	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46254587A>G	ENST00000334344.6	+	16	4949	c.4777A>G	c.(4777-4779)Act>Gct	p.T1593A	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.T1444A|ARID2_ENST00000457135.1_Missense_Mutation_p.T201A|ARID2_ENST00000444670.1_Missense_Mutation_p.T1203A	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1593					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTCACAGAACACTCCTATGCC	0.393		NA	N, S, F		hepatocellular carcinoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0													64	60	62			NA	NA	12		NA											NA				46254587		2203	4300	6503	SO:0001583	missense				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079	196528	196528		-	18037	protein-coding gene	gene with protein product		609539			NA		Standard	XM_350875	NM_152641	NA	Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.4777A>G	12.37:g.46254587A>G	ENSP00000335044:p.Thr1593Ala	NA	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	37	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	A	15.55	2.865393	0.51588	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670;ENST00000457135	T;T	0.34072	1.38;1.57	5.86	5.86	0.93980	.	0.157958	0.56097	D	0.000029	T	0.38214	0.1032	L	0.44542	1.39	0.40793	D	0.983272	B;B;B	0.33022	0.394;0.394;0.15	B;B;B	0.37650	0.255;0.12;0.041	T	0.29243	-1.0018	10	0.56958	D	0.05	-15.3707	16.2644	0.82568	1.0:0.0:0.0:0.0	.	1593;1203;1593	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	A	1593;710;710;1444;1203;201	ENSP00000335044:T1593A;ENSP00000388357:T201A	ENSP00000335044:T1593A	T	+	1	0	ARID2	44540854	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.876000	0.48498	2.244000	0.73946	0.528000	0.53228	ACT	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318380.2		+	ENST00000334344.6	Missense_Mutation	SNP	12 : 46254587 - 46254587 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	310	48
PRIMPOL	201973	broad.mit.edu	37	4	185606792	185606792	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:185606792C>T	ENST00000314970.6	+	11	1682	c.1249C>T	c.(1249-1251)Cgg>Tgg	p.R417W	PRIMPOL_ENST00000512834.1_Missense_Mutation_p.R416W|PRIMPOL_ENST00000515774.1_Missense_Mutation_p.R288W|PRIMPOL_ENST00000503752.1_Missense_Mutation_p.R417W	NM_152683.2	NP_689896			primase and polymerase (DNA-directed)	417											NA						TTGTAAATATCGGTGGTGTGA	0.279		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	106	103			NA	NA	4		NA											NA				185606792		2202	4300	6502	SO:0001583	missense			AK057729	CCDS3837.1, CCDS75211.1, CCDS75212.1	4q35.1	2013-09-27	2013-09-27	2013-09-27	ENSG00000164306	ENSG00000164306	201973	201973			26575	protein-coding gene	gene with protein product		615421	coiled-coil domain containing 111	CCDC111	NA	12477932	Standard	NM_152683	XM_005262814	NA	Approved	FLJ33167	uc003iwk.2	Q96LW4	OTTHUMG00000160495	ENST00000314970.6:c.1249C>T	4.37:g.185606792C>T	ENSP00000313816:p.Arg417Trp	NA		37	CCDS3837.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.022764	0.93462	.	.	ENSG00000164306	ENST00000314970;ENST00000515774;ENST00000503752;ENST00000512834;ENST00000508001	T;T;T;T	0.61859	0.1;0.07;0.1;0.11	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.81098	0.4752	M	0.87381	2.88	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.83015	-0.0170	10	0.87932	D	0	-30.4189	20.3207	0.98668	0.0:1.0:0.0:0.0	.	288;417;416	D3DP56;Q96LW4;D6RDM1	.;CC111_HUMAN;.	W	417;288;417;416;91	ENSP00000313816:R417W;ENSP00000421913:R288W;ENSP00000420860:R417W;ENSP00000425316:R416W	ENSP00000313816:R417W	R	+	1	2	CCDC111	185843786	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.157000	0.77461	2.813000	0.96785	0.561000	0.74099	CGG	PRIMPOL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360827.1		+	ENST00000314970.6	Missense_Mutation	SNP	4 : 185606792 - 185606792 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	593	117
NRIP3	56675	broad.mit.edu	37	11	9009763	9009763	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9009763G>A	ENST00000309166.3	-	2	354	c.241C>T	c.(241-243)Cgt>Tgt	p.R81C	NRIP3_ENST00000531090.1_Missense_Mutation_p.R81C	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	81					proteolysis		aspartic-type endopeptidase activity			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		CAAGGGACACGGGGACCGCTT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	137	141			NA	NA	11		NA											NA				9009763		2201	4296	6497	SO:0001583	missense			AJ400877	CCDS31422.1	11p15.3	2008-02-05	2003-09-03	2003-09-05	ENSG00000175352	ENSG00000175352	56675	56675			1167	protein-coding gene	gene with protein product		613125	chromosome 11 open reading frame 14	C11orf14	NA	11528127	Standard	NM_020645	NM_020645	NA	Approved		uc001mhg.2	Q9NQ35	OTTHUMG00000165680	ENST00000309166.3:c.241C>T	11.37:g.9009763G>A	ENSP00000310205:p.Arg81Cys	NA	Q86WD9	37	CCDS31422.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644065	0.87859	.	.	ENSG00000175352	ENST00000309166;ENST00000531090;ENST00000525100	T	0.48201	0.82	6.06	5.14	0.70334	.	0.114972	0.64402	D	0.000015	T	0.58250	0.2109	L	0.51422	1.61	0.58432	D	0.99999	D	0.76494	0.999	P	0.56088	0.791	T	0.62651	-0.6809	10	0.72032	D	0.01	-34.6088	16.3598	0.83257	0.0:0.1324:0.8676:0.0	.	81	Q9NQ35	NRIP3_HUMAN	C	81;81;74	ENSP00000310205:R81C	ENSP00000310205:R81C	R	-	1	0	NRIP3	8966339	1.000000	0.71417	0.980000	0.43619	0.947000	0.59692	4.651000	0.61447	1.555000	0.49500	0.655000	0.94253	CGT	NRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385774.1		-	ENST00000309166.3	Missense_Mutation	SNP	11 : 9009763 - 9009763 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	618	134
ACKR4	51554	broad.mit.edu	37	3	132320091	132320091	+	Missense_Mutation	SNP	G	G	A	rs139794831		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132320091G>A	ENST00000249887.2	+	2	946	c.850G>A	c.(850-852)Gcc>Acc	p.A284T	ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000545291.1_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1			atypical chemokine receptor 4	NA											NA						CATGGACATCGCCATCCAAGT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA,,THR/ALA	1,4403	2.1+/-5.4	0,1,2201	175	171	172		850,,850	5.6	1	3	dbSNP_134	172	0,8596		0,0,4298	no	missense,intron,missense	CCRL1,ACAD11	NM_016557.2,NM_032169.4,NM_178445.1	58,,58	0,1,6499	AA,AG,GG	NA	0.0,0.0227,0.0077	benign,,benign	284/351,,284/351	132320091	1,12999	2202	4298	6500	SO:0001583	missense			AF110640	CCDS3075.1	3q22	2013-07-17	2013-07-16	2013-07-16	ENSG00000129048	ENSG00000129048	51554	51554		GPCR / Class A : Chemokine receptors : Atypical	1611	protein-coding gene	gene with protein product		606065	chemokine (C-C motif) receptor-like 1	CCRL1	NA	10767544, 16148	Standard	NM_016557	NM_016557	NA	Approved	CCR11, CCBP2, VSHK1, CCX-CKR, PPR1	uc003eow.3	Q9NPB9	OTTHUMG00000159768	ENST00000249887.2:c.850G>A	3.37:g.132320091G>A	ENSP00000249887:p.Ala284Thr	NA		37	CCDS3075.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218322	0.79464	2.27E-4	0.0	ENSG00000129048	ENST00000249887	T	0.38401	1.14	5.56	5.56	0.83823	GPCR, rhodopsin-like superfamily (1);	0.108734	0.64402	D	0.000006	T	0.57636	0.2067	M	0.73598	2.24	0.58432	D	0.999995	D	0.89917	1.0	D	0.72625	0.978	T	0.55244	-0.8171	10	0.36615	T	0.2	.	12.8238	0.57708	0.0745:0.0:0.9255:0.0	.	284	Q9NPB9	CCRL1_HUMAN	T	284	ENSP00000249887:A284T	ENSP00000249887:A284T	A	+	1	0	CCRL1	133802781	1.000000	0.71417	0.965000	0.40720	0.799000	0.45148	8.061000	0.89467	2.640000	0.89533	0.655000	0.94253	GCC	ACKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357238.2		+	ENST00000249887.2	Missense_Mutation	SNP	3 : 132320091 - 132320091 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1426	143
ABLIM1	3983	broad.mit.edu	37	10	116417899	116417899	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116417899C>A	ENST00000277895.5	-	1	158	c.61G>T	c.(61-63)Gtc>Ttc	p.V21F	ABLIM1_ENST00000533213.2_Intron|ABLIM1_ENST00000369252.4_Intron	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	21					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GATGAGGTGACTTTGCTTTTC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	117	116			NA	NA	10		NA											NA				116417899		2203	4300	6503	SO:0001583	missense			AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204	3983	3983			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM	NA	9245787	Standard		NM_002313	NA	Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.61G>T	10.37:g.116417899C>A	ENSP00000277895:p.Val21Phe	NA	A6NI16|A6NJ06|A8MXA9|Q15039|Q5JVV1|Q5JVV2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	37	CCDS7590.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130659	0.37630	.	.	ENSG00000099204	ENST00000336585;ENST00000369262;ENST00000277895	T	0.30981	1.51	5.77	3.69	0.42338	.	1.498440	0.04411	N	0.366045	T	0.21841	0.0526	N	0.14661	0.345	0.09310	N	0.999999	B	0.26400	0.148	B	0.21360	0.034	T	0.18272	-1.0342	10	0.66056	D	0.02	.	8.7105	0.34380	0.0:0.7413:0.1546:0.1041	.	21	O14639	ABLM1_HUMAN	F	21	ENSP00000277895:V21F	ENSP00000277895:V21F	V	-	1	0	ABLIM1	116407889	0.028000	0.19301	0.282000	0.24776	0.833000	0.47200	1.322000	0.33689	1.443000	0.47586	0.650000	0.86243	GTC	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050469.3		-	ENST00000277895.5	Missense_Mutation	SNP	10 : 116417899 - 116417899 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	645	117
EPHX1	2052	broad.mit.edu	37	1	226027621	226027621	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226027621C>A	ENST00000366837.4	+	6	1010	c.814C>A	c.(814-816)Ctt>Att	p.L272I	EPHX1_ENST00000272167.5_Missense_Mutation_p.L272I	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	272					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CGGGAGGTTTCTTGGCCTCAC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													191	171	178			NA	NA	1		NA											NA				226027621		2203	4300	6503	SO:0001583	missense			J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	2052	2052	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX	NA	9925921	Standard	NM_000120	NM_000120	NA	Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.814C>A	1.37:g.226027621C>A	ENSP00000355802:p.Leu272Ile	NA	Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	37	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.435926	0.25813	.	.	ENSG00000143819	ENST00000272167;ENST00000366837	T;T	0.62232	0.04;0.04	5.57	-6.85	0.01681	Alpha/beta hydrolase fold-1 (1);	0.643450	0.16488	N	0.212251	T	0.43919	0.1269	L	0.46741	1.465	0.09310	N	0.99999	B	0.23540	0.087	B	0.27076	0.076	T	0.43734	-0.9373	10	0.12103	T	0.63	-5.3139	9.0791	0.36540	0.0:0.4664:0.1095:0.424	.	272	P07099	HYEP_HUMAN	I	272	ENSP00000272167:L272I;ENSP00000355802:L272I	ENSP00000272167:L272I	L	+	1	0	EPHX1	224094244	0.481000	0.25941	0.000000	0.03702	0.002000	0.02628	0.763000	0.26517	-1.000000	0.03438	-0.423000	0.05987	CTT	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092064.1		+	ENST00000366837.4	Missense_Mutation	SNP	1 : 226027621 - 226027621 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	825	73
PLEKHA1	59338	broad.mit.edu	37	10	124152810	124152810	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124152810C>A	ENST00000368988.1	+	2	217	c.94C>A	c.(94-96)Ctg>Atg	p.L32M	PLEKHA1_ENST00000494222.1_3'UTR|PLEKHA1_ENST00000368990.3_Missense_Mutation_p.L32M|PLEKHA1_ENST00000368989.2_Missense_Mutation_p.L32M|PLEKHA1_ENST00000433307.1_Missense_Mutation_p.L32M|PLEKHA1_ENST00000538022.1_Missense_Mutation_p.L32M			Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	32	PH 1.				B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTACTTCATACTGGATACCAG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	87	86			NA	NA	10		NA											NA				124152810		2203	4300	6503	SO:0001583	missense			AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679	59338	59338		Pleckstrin homology (PH) domain containing	14335	protein-coding gene	gene with protein product	tandem PH domain containing protein-1	607772	pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1		NA	11001876, 15485858	Standard	NM_001001974	NM_001001974	NA	Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368988.1:c.94C>A	10.37:g.124152810C>A	ENSP00000357984:p.Leu32Met	NA	D3DRE2|Q9BVK0	37		.	.	.	.	.	.	.	.	.	.	C	21.6	4.170764	0.78452	.	.	ENSG00000107679	ENST00000368990;ENST00000368989;ENST00000409427;ENST00000368988;ENST00000538022;ENST00000392799;ENST00000433307	D;D;D;D;D;D	0.91996	-2.95;-2.95;-2.95;-2.95;-2.95;-2.95	6.08	4.25	0.50352	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.95348	0.8490	M	0.76002	2.32	0.58432	D	0.999999	D;D	0.89917	0.983;1.0	D;D	0.91635	0.995;0.999	D	0.95196	0.8312	10	0.87932	D	0	-14.4662	12.7713	0.57423	0.0:0.8684:0.0:0.1316	.	32;32	B3KQ55;Q9HB21	.;PKHA1_HUMAN	M	32	ENSP00000357986:L32M;ENSP00000357985:L32M;ENSP00000357984:L32M;ENSP00000438608:L32M;ENSP00000376547:L32M;ENSP00000394416:L32M	ENSP00000357984:L32M	L	+	1	2	PLEKHA1	124142800	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.991000	0.70602	0.917000	0.36895	-0.229000	0.12294	CTG	PLEKHA1-201	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000109728.3		+	ENST00000368988.1	Missense_Mutation	SNP	10 : 124152810 - 124152810 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	298	52
CASP1	834	broad.mit.edu	37	11	104900402	104900402	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104900402G>T	ENST00000528974.1	-	6	799	c.735C>A	c.(733-735)gcC>gcA	p.A245A	CASP1_ENST00000353247.5_Intron|CASP1_ENST00000446369.1_Silent_p.A191A|CASP1_ENST00000533400.1_Silent_p.A284A|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000593315.1_Silent_p.A263A|CASP1_ENST00000436863.3_Silent_p.A284A|CASP1_ENST00000598974.1_Silent_p.A284A|CASP1_ENST00000525825.1_Silent_p.A263A|CASP1_ENST00000534497.1_Silent_p.A191A|CASP1_ENST00000526568.1_Silent_p.A191A|CASP1_ENST00000527979.1_Silent_p.A247A|CASP1_ENST00000594519.1_Silent_p.A191A|CASP1_ENST00000393136.4_Silent_p.A263A|CASP1_ENST00000415981.2_Intron			P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	284					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	CACCACGGCAGGCCTGGATGA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(41;1246 1743 4934)							NA				0													89	75	80			NA	NA	11		NA											NA				104900402		2202	4299	6501	SO:0001819	synonymous_variant			U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752	834	834		Caspases	1499	protein-coding gene	gene with protein product	caspase-1, interleukin 1, beta, convertase	147678	caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase), caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)	IL1BC	NA	1373520, 9250871	Standard	NM_033292	NM_033292	NA	Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000528974.1:c.735C>A	11.37:g.104900402G>T		NA	B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	37																																																																																				CASP1-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000388122.1		-	ENST00000528974.1	Silent	SNP	11 : 104900402 - 104900402 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	24
CTSG	1511	broad.mit.edu	37	14	25044478	25044478	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:25044478A>G	ENST00000216336.2	-	2	232	c.196T>C	c.(196-198)Tgg>Cgg	p.W66R		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	66	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CACCTTCCCCAGCAATGAGCT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	79	81			NA	NA	14		NA											NA				25044478		2203	4300	6503	SO:0001583	missense			M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448	1511	1511		Cathepsins, Endogenous ligands	2532	protein-coding gene	gene with protein product		116830			NA	2569462	Standard	NM_001911	NM_001911	NA	Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.196T>C	14.37:g.25044478A>G	ENSP00000216336:p.Trp66Arg	NA	Q6IBJ6|Q9UCA5|Q9UCU6	37	CCDS9631.1	.	.	.	.	.	.	.	.	.	.	A	8.341	0.828653	0.16749	.	.	ENSG00000100448	ENST00000216336	D	0.88431	-2.38	5.38	-3.44	0.04796	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.520840	0.04420	N	0.367522	T	0.75925	0.3916	N	0.12746	0.255	0.20196	N	0.999921	B	0.13594	0.008	B	0.22880	0.042	T	0.61496	-0.7051	10	0.25106	T	0.35	.	3.8901	0.09114	0.3929:0.0:0.3384:0.2687	.	66	P08311	CATG_HUMAN	R	66	ENSP00000216336:W66R	ENSP00000216336:W66R	W	-	1	0	CTSG	24114318	0.024000	0.19004	0.030000	0.17652	0.954000	0.61252	0.034000	0.13776	-0.535000	0.06307	-0.333000	0.08304	TGG	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276536.2		-	ENST00000216336.2	Missense_Mutation	SNP	14 : 25044478 - 25044478 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	437	73
DNAH9	1770	broad.mit.edu	37	17	11532855	11532855	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11532855G>T	ENST00000454412.2	+	7	1472	c.1472G>T	c.(1471-1473)aGg>aTg	p.R491M	DNAH9_ENST00000262442.4_Missense_Mutation_p.R491M			Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	491	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAGATGTACAGGCTTCTCTCA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	101	103			NA	NA	17		NA											NA				11532855		2203	4300	6503	SO:0001583	missense			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174	1770	1770		Axonemal dyneins	2953	protein-coding gene	gene with protein product		603330	dynein, axonemal, heavy polypeptide 17-like, dynein, axonemal, heavy polypeptide 9	DNAH17L	NA	8812413, 11247663	Standard	NM_001372	NM_001372	NA	Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000454412.2:c.1472G>T	17.37:g.11532855G>T	ENSP00000414874:p.Arg491Met	NA	O15064|O95494|Q9NQ28	37		.	.	.	.	.	.	.	.	.	.	G	14.84	2.656503	0.47467	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.56941	0.43;0.43	5.61	1.84	0.25277	Dynein heavy chain, domain-1 (1);	0.323004	0.31020	N	0.008406	T	0.53578	0.1805	L	0.50333	1.59	0.80722	D	1	B	0.33413	0.411	P	0.47102	0.537	T	0.52852	-0.8520	10	0.54805	T	0.06	.	7.0825	0.25239	0.5122:0.0:0.4878:0.0	.	491	Q9NYC9	DYH9_HUMAN	M	491	ENSP00000262442:R491M;ENSP00000414874:R491M	ENSP00000262442:R491M	R	+	2	0	DNAH9	11473580	0.956000	0.32656	0.989000	0.46669	0.184000	0.23303	0.847000	0.27696	0.606000	0.29965	0.655000	0.94253	AGG	DNAH9-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000252758.4		+	ENST00000454412.2	Missense_Mutation	SNP	17 : 11532855 - 11532855 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	457	52
ADCY6	112	broad.mit.edu	37	12	49165651	49165651	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49165651G>A	ENST00000307885.4	-	18	3587	c.2893C>T	c.(2893-2895)Cgc>Tgc	p.R965C	ADCY6_ENST00000550422.1_Missense_Mutation_p.R912C|ADCY6_ENST00000357869.3_Missense_Mutation_p.R912C	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	965					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TCATTGCGGCGCTCCCGGGCC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	87	95			NA	NA	12		NA											NA				49165651		2203	4300	6503	SO:0001583	missense				CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	112	112	4.6.1.1	Adenylate cyclases	237	protein-coding gene	gene with protein product		600294			NA		Standard	NM_020983	NM_015270	NA	Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.2893C>T	12.37:g.49165651G>A	ENSP00000311405:p.Arg965Cys	NA	Q9NR75|Q9UDB0	37	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697873	0.88830	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	T;T;T	0.80909	-1.39;-1.39;-1.43	5.74	5.74	0.90152	Adenylyl cyclase class-3/4/guanylyl cyclase (2);	0.000000	0.85682	D	0.000000	D	0.91637	0.7357	M	0.90542	3.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;P	0.68943	0.943;0.961;0.886	D	0.92549	0.6048	10	0.87932	D	0	.	19.0821	0.93186	0.0:0.0:1.0:0.0	.	196;912;965	B4DG74;O43306-2;O43306	.;.;ADCY6_HUMAN	C	912;912;965	ENSP00000350536:R912C;ENSP00000446730:R912C;ENSP00000311405:R965C	ENSP00000311405:R965C	R	-	1	0	ADCY6	47451918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.584000	0.74057	2.884000	0.98904	0.655000	0.94253	CGC	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408863.1		-	ENST00000307885.4	Missense_Mutation	SNP	12 : 49165651 - 49165651 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	509	42
PRR14	78994	broad.mit.edu	37	16	30666168	30666168	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30666168C>T	ENST00000542965.2	+	7	1333	c.877C>T	c.(877-879)Cag>Tag	p.Q293*	PRR14_ENST00000571654.1_3'UTR|PRR14_ENST00000300835.4_Nonsense_Mutation_p.Q293*			Q9BWN1	PRR14_HUMAN	proline rich 14	293	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			AGAGGCCGAGCAGTCTGGGGC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	39	38			NA	NA	16		NA											NA				30666168		2197	4299	6496	SO:0001587	stop_gained			AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858	78994	78994			28458	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024031	NM_024031	NA	Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.877C>T	16.37:g.30666168C>T	ENSP00000441641:p.Gln293*	NA	Q8WTX2	37	CCDS10687.1	.	.	.	.	.	.	.	.	.	.	C	39	7.361763	0.98235	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	.	.	.	5.75	3.56	0.40772	.	0.440563	0.20816	N	0.085141	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-10.0254	9.3627	0.38206	0.142:0.6106:0.2474:0.0	.	.	.	.	X	266;293;293	.	ENSP00000287463:Q266X	Q	+	1	0	PRR14	30573669	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.508000	0.35769	2.716000	0.92895	0.643000	0.83706	CAG	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434433.1		+	ENST00000542965.2	Nonsense_Mutation	SNP	16 : 30666168 - 30666168 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	13
AEBP1	165	broad.mit.edu	37	7	44153526	44153526	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44153526C>T	ENST00000223357.3	+	21	3448	c.3143C>T	c.(3142-3144)aCt>aTt	p.T1048I	AEBP1_ENST00000450684.2_Missense_Mutation_p.T623I	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1048	Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GGCCCCCACACTGTGCCTCCC	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	45	45			NA	NA	7		NA											NA				44153526		2202	4298	6500	SO:0001583	missense			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624	165	165			303	protein-coding gene	gene with protein product	aortic carboxypeptidase-like protein, adipocyte enhancer binding protein 1	602981	AE-binding protein 1		NA	8920928	Standard	NM_001129	NM_001129	NA	Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3143C>T	7.37:g.44153526C>T	ENSP00000223357:p.Thr1048Ile	NA	Q14113|Q59ER7|Q6ZSC7|Q7KZ79	37	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.393069	0.25118	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	D;D	0.95690	-3.78;-3.13	4.0	0.568	0.17333	.	1.510280	0.03661	N	0.242499	D	0.92047	0.7480	N	0.24115	0.695	0.09310	N	1	B;B	0.29716	0.255;0.165	B;B	0.34931	0.192;0.094	D	0.84349	0.0531	10	0.87932	D	0	4.82	8.4594	0.32919	0.2768:0.581:0.1422:0.0	.	623;1048	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	I	1048;623	ENSP00000223357:T1048I;ENSP00000398878:T623I	ENSP00000223357:T1048I	T	+	2	0	AEBP1	44120051	0.001000	0.12720	0.001000	0.08648	0.033000	0.12548	0.877000	0.28106	0.113000	0.18004	0.557000	0.71058	ACT	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250993.2		+	ENST00000223357.3	Missense_Mutation	SNP	7 : 44153526 - 44153526 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	302	36
TEF	7008	broad.mit.edu	37	22	41790200	41790200	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41790200C>T	ENST00000266304.4	+	3	692	c.576C>T	c.(574-576)ctC>ctT	p.L192L	TEF_ENST00000406644.3_Silent_p.L162L	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor	192	Pro-rich (proline/acidic region (PAR)).				rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						ACCTGGTGCTCTCCAGTGTGC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	81	80			NA	NA	22		NA											NA				41790200		2203	4300	6503	SO:0001819	synonymous_variant				CCDS14014.1, CCDS46716.1	22q13.2	2013-01-10			ENSG00000167074	ENSG00000167074	7008	7008		basic leucine zipper proteins	11722	protein-coding gene	gene with protein product		188595			NA	7835883, 15665112	Standard	NM_003216	NM_001145398	NA	Approved	KIAA1655	uc003azy.4	Q10587	OTTHUMG00000150968	ENST00000266304.4:c.576C>T	22.37:g.41790200C>T		NA	B0QYS8|B2RC22|Q15729|Q7Z3J7|Q8IU94|Q96TG4	37	CCDS14014.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.325398	0.24080	.	.	ENSG00000167074	ENST00000413942	.	.	.	5.78	0.71	0.18157	.	.	.	.	.	T	0.65893	0.2735	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63839	-0.6546	4	.	.	.	-30.8495	13.1516	0.59492	0.0988:0.4108:0.4905:0.0	.	.	.	.	F	158	.	.	S	+	2	0	TEF	40120146	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	0.219000	0.17641	0.374000	0.24650	0.655000	0.94253	TCT	TEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320692.1		+	ENST00000266304.4	Silent	SNP	22 : 41790200 - 41790200 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	670	101
SMAD7	4092	broad.mit.edu	37	18	46448237	46448237	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:46448237G>A	ENST00000262158.2	-	4	1072	c.786C>T	c.(784-786)tgC>tgT	p.C262C	SMAD7_ENST00000591805.1_Silent_p.C47C|SMAD7_ENST00000585986.1_5'UTR|SMAD7_ENST00000589634.1_Silent_p.C261C	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	262	MH2.				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	p.C262C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					ATGCCACCACGCACCAGTGTG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											50	55	54			NA	NA	18		NA											NA				46448237		2199	4298	6497	SO:0001819	synonymous_variant			AF010193	CCDS11936.1, CCDS54186.1, CCDS59317.1	18q21.1	2006-11-06	2006-11-06	2004-05-26	ENSG00000101665	ENSG00000101665	4092	4092		SMADs	6773	protein-coding gene	gene with protein product		602932	MAD, mothers against decapentaplegic homolog 7 (Drosophila), SMAD, mothers against DPP homolog 7 (Drosophila)	MADH8, MADH7	NA	9256479, 9730599	Standard	NM_005904	NM_005904	NA	Approved		uc002ldg.3	O15105	OTTHUMG00000132655	ENST00000262158.2:c.786C>T	18.37:g.46448237G>A		NA	O14740|Q6DK23	37	CCDS11936.1																																																																																			SMAD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255906.1		-	ENST00000262158.2	Silent	SNP	18 : 46448237 - 46448237 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	307	46
NRN1	51299	broad.mit.edu	37	6	6002641	6002641	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:6002641T>C	ENST00000244766.2	-	2	362	c.145A>G	c.(145-147)Atg>Gtg	p.M49V	NRN1_ENST00000495850.1_5'UTR	NM_001278710.1|NM_016588.2	NP_001265639.1|NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	49				SM -> TW (in Ref. 3; AAP97232).		anchored to membrane|plasma membrane				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		TAGTTGGCCATGCTGTCGCCC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	133	142			NA	NA	6		NA											NA				6002641		2203	4300	6503	SO:0001583	missense			AF136631	CCDS4495.1, CCDS75393.1	6p25.1	2008-02-05			ENSG00000124785	ENSG00000124785	51299	51299			17972	protein-coding gene	gene with protein product		607409			NA	9122250	Standard		NM_016588	NA	Approved	NRN	uc003mwu.3	Q9NPD7	OTTHUMG00000014184	ENST00000244766.2:c.145A>G	6.37:g.6002641T>C	ENSP00000244766:p.Met49Val	NA	B2RA93|Q7Z4Y1	37	CCDS4495.1	.	.	.	.	.	.	.	.	.	.	T	13.79	2.341319	0.41498	.	.	ENSG00000124785	ENST00000244766	.	.	.	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.37237	0.0996	L	0.42245	1.32	0.46203	D	0.998925	B	0.02656	0.0	B	0.04013	0.001	T	0.38929	-0.9638	9	0.40728	T	0.16	-9.5493	11.209	0.48786	0.0:0.0:0.0:1.0	.	49	Q9NPD7	NRN1_HUMAN	V	49	.	ENSP00000244766:M49V	M	-	1	0	NRN1	5947640	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.965000	0.63708	1.773000	0.52216	0.379000	0.24179	ATG	NRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039753.1		-	ENST00000244766.2	Missense_Mutation	SNP	6 : 6002641 - 6002641 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	615	113
ATP4A	495	broad.mit.edu	37	19	36050771	36050771	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36050771G>T	ENST00000262623.3	-	7	1020	c.992C>A	c.(991-993)gCc>gAc	p.A331D		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	331					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GAAGACCATGGCCCGCAGGAA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	67	72			NA	NA	19		NA											NA				36050771		2203	4300	6503	SO:0001583	missense				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	495	495	3.6.3.10	ATPases / P-type	819	protein-coding gene	gene with protein product	gastric H,K-ATPase alpha subunit, H(+)-K(+)-ATPase alpha subunit, proton pump	137216			NA	1330887	Standard	NM_000704	NM_000704	NA	Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.992C>A	19.37:g.36050771G>T	ENSP00000262623:p.Ala331Asp	NA	O00738	37	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475950	0.84640	.	.	ENSG00000105675	ENST00000262623	D	0.91180	-2.8	3.83	3.83	0.44106	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.64402	D	0.000006	D	0.94631	0.8269	M	0.80847	2.515	0.80722	D	1	D	0.61080	0.989	D	0.68483	0.958	D	0.95198	0.8314	10	0.87932	D	0	.	13.5911	0.61961	0.0:0.0:1.0:0.0	.	331	P20648	ATP4A_HUMAN	D	331	ENSP00000262623:A331D	ENSP00000262623:A331D	A	-	2	0	ATP4A	40742611	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.559000	0.98135	2.146000	0.66826	0.561000	0.74099	GCC	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109470.2		-	ENST00000262623.3	Missense_Mutation	SNP	19 : 36050771 - 36050771 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	60
SLC6A4	6532	broad.mit.edu	37	17	28538374	28538374	+	Missense_Mutation	SNP	T	T	C	rs28914832	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28538374T>C	ENST00000401766.2	-	9	1785	c.1273A>G	c.(1273-1275)Atc>Gtc	p.I425V	SLC6A4_ENST00000261707.3_Missense_Mutation_p.I425V			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	425			I -> L (in dbSNP:rs28914832).|I -> V (polymorphism linked with susceptibility to obsessive-compulsive disorder; increased serotonin transport capacity).		response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	AAGAAGATGATGGCAAAGAAA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM033983|CM057406	SLC6A4	M	rs28914832	T	VAL/ILE	2,4404	4.2+/-10.8	0,2,2201	139	129	133	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1273	5.2	1	17	dbSNP_125	133	11,8589	8.4+/-32.0	0,11,4289	yes	missense	SLC6A4	NM_001045.4	29	0,13,6490	CC,CT,TT	NA	0.1279,0.0454,0.1	benign	425/631	28538374	13,12993	2203	4300	6503	SO:0001583	missense			L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576	6532	6532		Solute carriers	11050	protein-coding gene	gene with protein product	serotonin transporter 1	182138	solute carrier family 6 (neurotransmitter transporter, serotonin), member 4, 5-hydroxytryptamine (serotonin) transporter, obsessive-compulsive disorder 1	HTT, OCD1	NA	7681602, 19806148	Standard	NM_001045	NM_001045	NA	Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.1273A>G	17.37:g.28538374T>C	ENSP00000385822:p.Ile425Val	NA		37	CCDS11256.1	.	.	.	.	.	.	.	.	.	.	T	14.35	2.510509	0.44660	4.54E-4	0.001279	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	T;T	0.72942	-0.7;-0.7	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.61248	0.2332	L	0.33792	1.035	0.80722	D	1	B	0.17465	0.022	B	0.25405	0.06	T	0.56378	-0.7989	10	0.25106	T	0.35	.	14.4528	0.67397	0.0:0.0:0.0:1.0	.	425	P31645	SC6A4_HUMAN	V	467;425;425	ENSP00000385822:I425V;ENSP00000261707:I425V	ENSP00000261707:I425V	I	-	1	0	SLC6A4	25562500	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.995000	0.63908	2.202000	0.70862	0.379000	0.24179	ATC	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256115.3		-	ENST00000401766.2	Missense_Mutation	SNP	17 : 28538374 - 28538374 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	243	44
ZNF346	23567	broad.mit.edu	37	5	176477892	176477892	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176477892G>A	ENST00000503425.1	+	4	597	c.562G>A	c.(562-564)Gca>Aca	p.A188T	ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000503039.1_Missense_Mutation_p.A245T|ZNF346_ENST00000506693.1_Missense_Mutation_p.A122T|ZNF346_ENST00000261948.4_Missense_Mutation_p.A245T|ZNF346_ENST00000358149.3_Missense_Mutation_p.A220T|ZNF346_ENST00000511834.1_Missense_Mutation_p.A236T			Q9UL40	ZN346_HUMAN	zinc finger protein 346	220						cytoplasm|nucleolus	double-stranded RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAAACTAATGGCACGCTATGG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	87	90			NA	NA	5		NA											NA				176477892		2203	4300	6503	SO:0001583	missense			AF083340	CCDS4409.1	5q35.3	2012-10-05			ENSG00000113761	ENSG00000113761	23567	23567			16403	protein-coding gene	gene with protein product		605308			NA	10488071	Standard	NM_012279	NM_012279	NA	Approved	JAZ, Zfp346	uc003mfi.3	Q9UL40	OTTHUMG00000130848	ENST00000503425.1:c.562G>A	5.37:g.176477892G>A	ENSP00000421212:p.Ala188Thr	NA	Q68CV9|Q6ZMW1	37		.	.	.	.	.	.	.	.	.	.	G	17.84	3.487681	0.64074	.	.	ENSG00000113761	ENST00000358149;ENST00000506693;ENST00000503425;ENST00000261948;ENST00000511834;ENST00000503039	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99	5.21	5.21	0.72293	.	0.218203	0.47852	D	0.000208	T	0.36826	0.0981	L	0.27053	0.805	0.38824	D	0.955696	P;P;D;P	0.57571	0.852;0.911;0.98;0.929	B;B;P;B	0.49047	0.351;0.288;0.599;0.316	T	0.15206	-1.0445	10	0.32370	T	0.25	.	12.1606	0.54101	0.0784:0.0:0.9216:0.0	.	122;188;245;220	B7Z4J8;B7Z367;Q9UL40-2;Q9UL40	.;.;.;ZN346_HUMAN	T	220;122;188;245;236;245	ENSP00000350869:A220T;ENSP00000423515:A122T;ENSP00000421212:A188T;ENSP00000261948:A245T;ENSP00000425725:A236T;ENSP00000424495:A245T	ENSP00000261948:A245T	A	+	1	0	ZNF346	176410498	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.441000	0.66569	2.405000	0.81733	0.655000	0.94253	GCA	ZNF346-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000372584.1		+	ENST00000503425.1	Missense_Mutation	SNP	5 : 176477892 - 176477892 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	446	88
NKX2-2	4821	broad.mit.edu	37	20	21492786	21492786	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21492786C>T	ENST00000377142.4	-	2	953	c.597G>A	c.(595-597)tcG>tcA	p.S199S	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	199					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCCGGCGCGGCGAGGGCAGGG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	36	35			NA	NA	20		NA											NA				21492786		2202	4299	6501	SO:0001819	synonymous_variant			AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820	4821	4821		Homeoboxes / ANTP class : NKL subclass	7835	protein-coding gene	gene with protein product		604612	NK-2 (Drosophila) homolog B, NK2 transcription factor related, locus 2 (Drosophila)	NKX2B	NA	9703340, 1346742	Standard		NM_002509	NA	Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.597G>A	20.37:g.21492786C>T		NA		37	CCDS13145.1																																																																																			NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078278.9		-	ENST00000377142.4	Silent	SNP	20 : 21492786 - 21492786 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	32
MLLT1	4298	broad.mit.edu	37	19	6213743	6213743	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6213743G>A	ENST00000252674.7	-	10	1636	c.1473C>T	c.(1471-1473)taC>taT	p.Y491Y	MLLT1_ENST00000585588.1_5'UTR	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	491					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CCACCTTGTCGTAGGTGCCCT	0.667		NA	T	MLL	AL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		19	19p13.3	4298	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)		L	0													85	81	82			NA	NA	19		NA											NA				6213743		2203	4300	6503	SO:0001819	synonymous_variant				CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382	4298	4298			7134	protein-coding gene	gene with protein product		159556	myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1		NA		Standard	NM_005934	XM_005259561	NA	Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.1473C>T	19.37:g.6213743G>A		NA	Q14768	37	CCDS12160.1																																																																																			MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452909.1		-	ENST00000252674.7	Silent	SNP	19 : 6213743 - 6213743 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	636	103
EP400	57634	broad.mit.edu	37	12	132528242	132528242	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132528242C>T	ENST00000333577.4	+	35	6636	c.6527C>T	c.(6526-6528)tCt>tTt	p.S2176F	EP400_ENST00000332482.4_Missense_Mutation_p.S2103F|EP400_ENST00000389561.2_Missense_Mutation_p.S2140F|EP400_ENST00000330386.6_Missense_Mutation_p.S2059F|EP400_ENST00000389562.2_Missense_Mutation_p.S2139F			Q96L91	EP400_HUMAN	E1A binding protein p400	2176					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TTCCATACTTCTATTGAGCAA	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	46	46			NA	NA	12		NA											NA				132528242		2202	4296	6498	SO:0001583	missense			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495	57634	57634			11958	protein-coding gene	gene with protein product		606265	trinucleotide repeat containing 12	TNRC12	NA	9225980, 11509179	Standard	NM_015409	NM_015409	NA	Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.6527C>T	12.37:g.132528242C>T	ENSP00000333602:p.Ser2176Phe	NA	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	37		.	.	.	.	.	.	.	.	.	.	C	4.909	0.168950	0.09339	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.90732	-2.72;-2.71;-2.72;-2.72;-2.72	5.74	5.74	0.90152	.	0.421443	0.28803	N	0.014087	D	0.92424	0.7595	M	0.73962	2.25	0.09310	N	1	P;P;P	0.50617	0.937;0.937;0.937	P;P;P	0.49999	0.628;0.628;0.628	D	0.87876	0.2674	10	0.54805	T	0.06	.	14.739	0.69440	0.1446:0.8554:0.0:0.0	.	2140;2059;2139	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	F	2176;2140;2139;2103;2059;2140	ENSP00000333602:S2176F;ENSP00000374212:S2140F;ENSP00000374213:S2139F;ENSP00000331737:S2103F;ENSP00000330620:S2059F	ENSP00000330620:S2059F	S	+	2	0	EP400	131094195	0.969000	0.33509	0.024000	0.17045	0.219000	0.24729	4.482000	0.60257	2.712000	0.92718	0.563000	0.77884	TCT	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding			+	ENST00000333577.4	Missense_Mutation	SNP	12 : 132528242 - 132528242 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	216	30
TRPV2	51393	broad.mit.edu	37	17	16335315	16335315	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16335315G>A	ENST00000583241.1	+	0	260				TRPV2_ENST00000577397.1_Missense_Mutation_p.E134K|TRPV2_ENST00000338560.7_Missense_Mutation_p.E564K			Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	NA					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTGGCGCCCCGAAGCTCCTAC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	42	42	42		1690	-2.9	0	17		42	0,8600		0,0,4300	no	missense	TRPV2	NM_016113.4	56	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	benign	564/765	16335315	1,13005	2203	4300	6503	SO:0001624	3_prime_UTR_variant			AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688	51393	51393		Voltage-gated ion channels / Transient receptor potential cation channels, Ankyrin repeat domain containing	18082	protein-coding gene	gene with protein product		606676			NA	10201375, 16382100	Standard	NM_016113	NM_016113	NA	Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000583241.1:c.*257G>A	17.37:g.16335315G>A		NA	A6NML2|A8K0Z0|Q9Y670	37		.	.	.	.	.	.	.	.	.	.	G	11.30	1.597432	0.28445	2.27E-4	0.0	ENSG00000187688	ENST00000338560	D	0.89552	-2.53	4.55	-2.93	0.05598	Ion transport (1);	4.637680	0.00397	N	0.000041	T	0.72676	0.3490	N	0.04724	-0.175	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.68762	-0.5323	10	0.06891	T	0.86	-31.6603	5.3118	0.15835	0.445:0.1439:0.4112:0.0	.	564	Q9Y5S1	TRPV2_HUMAN	K	564	ENSP00000342222:E564K	ENSP00000342222:E564K	E	+	1	0	TRPV2	16276040	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-2.404000	0.01045	-0.940000	0.03705	0.449000	0.29647	GAA	TRPV2-008	PUTATIVE	NMD_likely_if_extended|basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000444957.1		+	ENST00000583241.1	3'UTR	SNP	17 : 16335315 - 16335315 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	256	59
ESRRA	2101	broad.mit.edu	37	11	64082215	64082215	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64082215G>A	ENST00000405666.1	+	5	808	c.574G>A	c.(574-576)Gcc>Acc	p.A192T	ESRRA_ENST00000000442.6_Missense_Mutation_p.A192T|ESRRA_ENST00000406310.1_Splice_Site	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	192					positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						TGTCACAGCAGCCCCAGTGAA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	64	63			NA	NA	11		NA											NA				64082215		2084	4217	6301	SO:0001583	missense			X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153	2101	2101		Nuclear hormone receptors	3471	protein-coding gene	gene with protein product		601998		ESRL1	NA	3267207	Standard	NM_004451	NM_004451	NA	Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.574G>A	11.37:g.64082215G>A	ENSP00000384851:p.Ala192Thr	NA	Q14514	37	CCDS41667.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.50|11.50	1.657433|1.657433	0.29425|0.29425	.|.	.|.	ENSG00000173153|ENSG00000173153	ENST00000406310|ENST00000000442;ENST00000539594;ENST00000405666	.|T;T;T	.|0.35789	.|1.29;1.29;1.29	3.88|3.88	3.88|3.88	0.44766|0.44766	.|Nuclear hormone receptor, ligand-binding (2);	.|0.000000	.|0.46442	.|D	.|0.000292	.|T	.|0.20981	.|0.0505	N|N	0.22421|0.22421	0.69|0.69	0.33007|0.33007	D|D	0.526971|0.526971	.|P	.|0.41524	.|0.753	.|B	.|0.28553	.|0.091	.|T	.|0.43278	.|-0.9401	.|10	.|0.62326	.|D	.|0.03	.|.	13.73|13.73	0.62781|0.62781	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|192	.|P11474	.|ERR1_HUMAN	.|T	-1|192;49;192	.|ENSP00000000442:A192T;ENSP00000439896:A49T;ENSP00000384851:A192T	.|ENSP00000000442:A192T	.|A	+|+	.|1	.|0	ESRRA|ESRRA	63838791|63838791	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.615000|0.615000	0.37417|0.37417	4.517000|4.517000	0.60503|0.60503	2.171000|2.171000	0.68590|0.68590	0.462000|0.462000	0.41574|0.41574	.|GCC	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319304.1		+	ENST00000405666.1	Missense_Mutation	SNP	11 : 64082215 - 64082215 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	281	56
OR5B12	390191	broad.mit.edu	37	11	58206921	58206921	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58206921G>A	ENST00000302572.2	-	1	725	c.704C>T	c.(703-705)gCc>gTc	p.A235V		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGTAGAAAAGGCCTTCTGGCG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	75	76			NA	NA	11		NA											NA				58206921		2201	4295	6496	SO:0001583	missense			AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362	390191	390191		GPCR / Class A : Olfactory receptors	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16	NA	12213199	Standard	NM_001004733	NM_001004733	NA	Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.704C>T	11.37:g.58206921G>A	ENSP00000306657:p.Ala235Val	NA	B2RNL2|Q6IEV5	37	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016010	0.75161	.	.	ENSG00000172362	ENST00000302572	T	0.00342	8.03	4.3	4.3	0.51218	GPCR, rhodopsin-like superfamily (1);	0.139797	0.32852	N	0.005562	T	0.00724	0.0024	M	0.80847	2.515	0.45867	D	0.998727	P	0.43169	0.8	P	0.55161	0.77	T	0.74853	-0.3523	10	0.62326	D	0.03	-24.8721	16.2624	0.82553	0.0:0.0:1.0:0.0	.	235	Q96R08	OR5BC_HUMAN	V	235	ENSP00000306657:A235V	ENSP00000306657:A235V	A	-	2	0	OR5B12	57963497	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	3.742000	0.55097	2.383000	0.81215	0.462000	0.41574	GCC	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394987.1		-	ENST00000302572.2	Missense_Mutation	SNP	11 : 58206921 - 58206921 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	376	74
KRT85	3891	broad.mit.edu	37	12	52758891	52758891	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52758891G>A	ENST00000257901.3	-	2	559	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C		NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	162	Linker 1.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity	p.R162S(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCGCAGCAGCGCTGGTTCTGG	0.622		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)											51	52	52			NA	NA	12		NA											NA				52758891		2203	4300	6503	SO:0001583	missense			X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443	3891	3891		-, Intermediate filaments type II, keratins (basic)	6462	protein-coding gene	gene with protein product	hard keratin type II	602767	keratin, hair, basic, 5	KRTHB5	NA	9084137, 16831889	Standard	NM_002283	NM_002283	NA	Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.484C>T	12.37:g.52758891G>A	ENSP00000257901:p.Arg162Cys	NA	Q9NSB1	37	CCDS8824.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.591234	0.46214	.	.	ENSG00000135443	ENST00000257901	T	0.76186	-1.0	4.51	-1.86	0.07760	Filament (1);	2.754660	0.00855	N	0.001868	T	0.78780	0.4337	L	0.43152	1.355	0.09310	N	1	D	0.60160	0.987	P	0.58820	0.846	T	0.66705	-0.5856	10	0.87932	D	0	.	8.8268	0.35061	0.0:0.1999:0.195:0.6051	.	162	P78386	KRT85_HUMAN	C	162	ENSP00000257901:R162C	ENSP00000257901:R162C	R	-	1	0	KRT85	51045158	0.001000	0.12720	0.000000	0.03702	0.413000	0.31143	-0.345000	0.07770	-0.134000	0.11516	0.491000	0.48974	CGC	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405184.1		-	ENST00000257901.3	Missense_Mutation	SNP	12 : 52758891 - 52758891 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	471	99
AFF1	4299	broad.mit.edu	37	4	88035526	88035526	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88035526C>A	ENST00000307808.6	+	11	1940	c.1520C>A	c.(1519-1521)cCt>cAt	p.P507H	AFF1_ENST00000395146.4_Missense_Mutation_p.P514H|AFF1_ENST00000544085.1_Missense_Mutation_p.P145H	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	507						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TAGCCTGAGCCTCCAACAACA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	18	17			NA	NA	4		NA											NA				88035526		2087	4141	6228	SO:0001583	missense			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493	4299	4299			7135	protein-coding gene	gene with protein product		159557	myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2, pre-B-cell monocytic leukemia partner 1	PBM1, MLLT2	NA	7689231, 1423625, 8353274	Standard	NM_005935	NM_005935	NA	Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.1520C>A	4.37:g.88035526C>A	ENSP00000305689:p.Pro507His	NA		37	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.278086	0.40294	.	.	ENSG00000172493	ENST00000395146;ENST00000541943;ENST00000307808;ENST00000544085	T;T;T	0.70399	-0.48;-0.48;-0.48	5.89	5.89	0.94794	.	0.146689	0.48767	D	0.000163	D	0.86451	0.5936	M	0.83774	2.66	0.50632	D	0.999882	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.87195	0.2237	10	0.87932	D	0	-20.0312	20.2566	0.98424	0.0:1.0:0.0:0.0	.	514;507;507	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	H	514;166;507;145	ENSP00000378578:P514H;ENSP00000305689:P507H;ENSP00000440843:P145H	ENSP00000305689:P507H	P	+	2	0	AFF1	88254550	0.977000	0.34250	1.000000	0.80357	0.439000	0.31926	2.238000	0.43070	2.793000	0.96121	0.561000	0.74099	CCT	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253053.3		+	ENST00000307808.6	Missense_Mutation	SNP	4 : 88035526 - 88035526 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	166	20
IDH3A	3419	broad.mit.edu	37	15	78458537	78458537	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78458537C>A	ENST00000299518.2	+	10	993	c.910C>A	c.(910-912)Ccc>Acc	p.P304T	IDH3A_ENST00000558554.1_Missense_Mutation_p.P269T|IDH3A_ENST00000441490.2_Missense_Mutation_p.P195T|IDH3A_ENST00000561366.1_Silent_p.I37I|IDH3A_ENST00000559205.1_Missense_Mutation_p.P25T|IDH3A_ENST00000558535.1_3'UTR	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	304					carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12					NADH(DB00157)	CATGGCGAATCCCACAGCCCT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	149	158			NA	NA	15		NA											NA				78458537		2196	4293	6489	SO:0001583	missense				CCDS10297.1	15q25.1-q25.2	2008-07-18			ENSG00000166411	ENSG00000166411	3419	3419	1.1.1.41		5384	protein-coding gene	gene with protein product	H-IDH alpha, isocitric dehydrogenase, isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial, NAD+-specific ICDH, NAD(H)-specific isocitrate dehydrogenase alpha subunit, isocitrate dehydrogenase (NAD+) alpha chain	601149			NA	8833160	Standard	NM_005530	NM_005530	NA	Approved		uc002bdd.3	P50213	OTTHUMG00000143732	ENST00000299518.2:c.910C>A	15.37:g.78458537C>A	ENSP00000299518:p.Pro304Thr	NA	D3DW83|Q9H3X0	37	CCDS10297.1	.	.	.	.	.	.	.	.	.	.	C	33	5.217635	0.95104	.	.	ENSG00000166411	ENST00000299518;ENST00000441490	D;D	0.81996	-1.56;-1.56	5.7	5.7	0.88788	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95500	0.8538	H	0.99225	4.475	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97303	0.9932	10	0.87932	D	0	-16.5781	18.8361	0.92164	0.0:1.0:0.0:0.0	.	269;254;304	B4DSY4;B4DJB4;P50213	.;.;IDH3A_HUMAN	T	304;195	ENSP00000299518:P304T;ENSP00000387506:P195T	ENSP00000299518:P304T	P	+	1	0	IDH3A	76245592	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.741000	0.84997	2.681000	0.91329	0.655000	0.94253	CCC	IDH3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000289799.4		+	ENST00000299518.2	Missense_Mutation	SNP	15 : 78458537 - 78458537 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	525	122
BCS1L	617	broad.mit.edu	37	2	219526526	219526526	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219526526T>C	ENST00000431802.1	+	4	1204	c.505T>C	c.(505-507)Tac>Cac	p.Y169H	BCS1L_ENST00000392111.2_Missense_Mutation_p.Y169H|BCS1L_ENST00000412366.1_Missense_Mutation_p.Y169H|BCS1L_ENST00000392110.2_Missense_Mutation_p.Y169H|BCS1L_ENST00000392109.1_Missense_Mutation_p.Y169H|BCS1L_ENST00000439945.1_Missense_Mutation_p.Y169H|BCS1L_ENST00000359273.3_Missense_Mutation_p.Y169H			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	169					mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACCGTGATGTACACAGCTGT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	86	89			NA	NA	2		NA											NA				219526526		2203	4300	6503	SO:0001583	missense			AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582	617	617		ATPases / AAA-type, Mitochondrial respiratory chain complex assembly factors	1020	protein-coding gene	gene with protein product	GRACILE syndrome, Bjornstad syndrome	603647	BCS1 (yeast homolog)-like, BCS1-like (yeast), BCS1-like (S. cerevisiae)		NA	9878253, 17314340	Standard	NM_004328	NM_001079866	NA	Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.505T>C	2.37:g.219526526T>C	ENSP00000413908:p.Tyr169His	NA	B3KTW9|Q7Z2V7	37	CCDS2419.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.189675	0.57909	.	.	ENSG00000074582	ENST00000430322;ENST00000456050;ENST00000443791;ENST00000359273;ENST00000392109;ENST00000392110;ENST00000392111;ENST00000412366;ENST00000439945;ENST00000431802	D;D;D;D;D;D;D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91	5.33	2.96	0.34315	BCS1, N-terminal (1);	0.115428	0.64402	N	0.000009	D	0.97986	0.9337	M	0.86651	2.83	0.80722	D	1	B	0.26635	0.155	B	0.39935	0.314	D	0.96434	0.9321	10	0.51188	T	0.08	-19.5542	9.5157	0.39104	0.0:0.1425:0.0:0.8575	.	169	Q9Y276	BCS1_HUMAN	H	169;169;49;169;169;169;169;169;169;169	ENSP00000398957:Y169H;ENSP00000395440:Y169H;ENSP00000412729:Y49H;ENSP00000352219:Y169H;ENSP00000375957:Y169H;ENSP00000375958:Y169H;ENSP00000375959:Y169H;ENSP00000406494:Y169H;ENSP00000404999:Y169H;ENSP00000413908:Y169H	ENSP00000352219:Y169H	Y	+	1	0	BCS1L	219234770	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.931000	0.63469	0.478000	0.27488	0.528000	0.53228	TAC	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336756.1		+	ENST00000431802.1	Missense_Mutation	SNP	2 : 219526526 - 219526526 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	241	42
MMP15	4324	broad.mit.edu	37	16	58079274	58079274	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58079274C>T	ENST00000219271.3	+	10	2719	c.1934C>T	c.(1933-1935)gCg>gTg	p.A645V		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	645					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						CTCACCTACGCGCTGGTGCAG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	120	119			NA	NA	16		NA											NA				58079274		2197	4298	6495	SO:0001583	missense			Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996	4324	4324			7161	protein-coding gene	gene with protein product		602261	matrix metalloproteinase 15 (membrane-inserted)		NA	9070935, 9119382	Standard	NM_002428	NM_002428	NA	Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.1934C>T	16.37:g.58079274C>T	ENSP00000219271:p.Ala645Val	NA	A0A2U6|Q14111	37	CCDS10792.1	.	.	.	.	.	.	.	.	.	.	C	8.392	0.840009	0.16891	.	.	ENSG00000102996	ENST00000219271	T	0.32023	1.47	4.65	1.37	0.22104	Peptidase M10A, matrix metallopeptidase, C-terminal (1);	0.354298	0.31936	N	0.006838	T	0.10937	0.0267	N	0.03209	-0.39	0.40827	D	0.983555	B	0.28470	0.213	B	0.31495	0.131	T	0.09509	-1.0671	10	0.26408	T	0.33	.	3.1214	0.06392	0.0:0.4653:0.219:0.3157	.	645	P51511	MMP15_HUMAN	V	645	ENSP00000219271:A645V	ENSP00000219271:A645V	A	+	2	0	MMP15	56636775	0.652000	0.27349	0.042000	0.18584	0.046000	0.14306	1.282000	0.33226	0.565000	0.29255	0.555000	0.69702	GCG	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257342.1		+	ENST00000219271.3	Missense_Mutation	SNP	16 : 58079274 - 58079274 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	65	16
GGA1	26088	broad.mit.edu	37	22	38019351	38019351	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38019351G>T	ENST00000406772.1	+	9	1060	c.408G>T	c.(406-408)gaG>gaT	p.E136D	GGA1_ENST00000325180.8_Missense_Mutation_p.E209D|GGA1_ENST00000381756.5_Missense_Mutation_p.E226D|GGA1_ENST00000337437.4_Missense_Mutation_p.E176D|GGA1_ENST00000343632.4_Missense_Mutation_p.E209D	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	209	Interaction with ARF3.|VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					AGCGGATGGAGAAGATCTCGA	0.587		NA									OREG0026543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													185	178	181			NA	NA	22		NA											NA				38019351		2203	4300	6503	SO:0001583	missense			AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083	26088	26088			17842	protein-coding gene	gene with protein product		606004			NA	10747088, 10747089, 16407204	Standard	NM_013365	NM_013365	NA	Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000406772.1:c.408G>T	22.37:g.38019351G>T	ENSP00000385287:p.Glu136Asp	875	A8K3D3|Q5TG07|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	37	CCDS54526.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256362	0.80246	.	.	ENSG00000100083	ENST00000343632;ENST00000381756;ENST00000325180;ENST00000337437;ENST00000449944;ENST00000406772	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	5.05	0.359	0.16088	GAT (2);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	M	0.87180	2.865	0.80722	D	1	D;D;P	0.89917	1.0;0.998;0.875	D;D;P	0.91635	0.999;0.995;0.627	T	0.61884	-0.6971	10	0.27082	T	0.32	-29.7801	10.6864	0.45846	0.3379:0.0:0.6621:0.0	.	226;209;209	Q6IC75;Q86YA9;Q9UJY5	.;.;GGA1_HUMAN	D	209;226;209;176;201;136	ENSP00000341344:E209D;ENSP00000371175:E226D;ENSP00000321288:E209D;ENSP00000338647:E176D;ENSP00000390416:E201D;ENSP00000385287:E136D	ENSP00000321288:E209D	E	+	3	2	GGA1	36349297	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.076000	0.57591	0.159000	0.19401	0.563000	0.77884	GAG	GGA1-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319455.1		+	ENST00000406772.1	Missense_Mutation	SNP	22 : 38019351 - 38019351 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1274	193
JPH4	84502	broad.mit.edu	37	14	24040262	24040262	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24040262C>T	ENST00000544177.1	-	3	695	c.673G>A	c.(673-675)Gca>Aca	p.A225T	JPH4_ENST00000356300.4_Missense_Mutation_p.A560T|JPH4_ENST00000397118.3_Missense_Mutation_p.A560T			Q96JJ6	JPH4_HUMAN	junctophilin 4	560					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		TCCGTGCCTGCTGGGGCCCTC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	50	48			NA	NA	14		NA											NA				24040262		2203	4300	6503	SO:0001583	missense			AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051	84502	84502			20156	protein-coding gene	gene with protein product			junctophilin like 1	JPHL1	NA	11347906	Standard	NM_032452	NM_032452	NA	Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000544177.1:c.673G>A	14.37:g.24040262C>T	ENSP00000439562:p.Ala225Thr	NA	D3DS53|Q8ND44|Q96DQ0	37		.	.	.	.	.	.	.	.	.	.	C	19.59	3.856914	0.71834	.	.	ENSG00000092051	ENST00000356300;ENST00000397118;ENST00000543864;ENST00000267407;ENST00000544177	T;T;T	0.56611	0.45;0.45;0.91	5.08	4.13	0.48395	.	0.764876	0.10176	U	0.706458	T	0.31765	0.0807	N	0.08118	0	0.09310	N	1	B;B	0.25105	0.118;0.037	B;B	0.23574	0.047;0.013	T	0.05801	-1.0863	10	0.14252	T	0.57	.	12.0487	0.53495	0.0:0.8254:0.1746:0.0	.	225;560	F5H1L9;Q96JJ6	.;JPH4_HUMAN	T	560;560;560;561;225	ENSP00000348648:A560T;ENSP00000380307:A560T;ENSP00000439562:A225T	ENSP00000267407:A561T	A	-	1	0	JPH4	23110102	0.002000	0.14202	0.777000	0.31699	0.900000	0.52787	1.311000	0.33562	2.518000	0.84900	0.655000	0.94253	GCA	JPH4-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000413855.1		-	ENST00000544177.1	Missense_Mutation	SNP	14 : 24040262 - 24040262 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	631	133
PAFAH2	5051	broad.mit.edu	37	1	26308959	26308959	+	Missense_Mutation	SNP	G	G	A	rs148012714		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26308959G>A	ENST00000374282.3	-	7	741	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	PAFAH2_ENST00000493892.1_5'UTR|PAFAH2_ENST00000374284.1_Missense_Mutation_p.R188W	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	188					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTTACCCGCTGATGCACC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	87	74	79		562	0.8	1	1	dbSNP_134	79	0,8600		0,0,4300	no	missense	PAFAH2	NM_000437.3	101	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging	188/393	26308959	1,13005	2203	4300	6503	SO:0001583	missense			D87845	CCDS270.1	1p34.3	2008-09-19	2002-08-29		ENSG00000158006	ENSG00000158006	5051	5051			8579	protein-coding gene	gene with protein product		602344	platelet-activating factor acetylhydrolase 2 (40kD)		NA	8955149, 9494101	Standard	NM_000437	NM_000437	NA	Approved	HSD-PLA2	uc001bld.4	Q99487	OTTHUMG00000007437	ENST00000374282.3:c.562C>T	1.37:g.26308959G>A	ENSP00000363400:p.Arg188Trp	NA	D3DPK1|O15458|Q5SY02	37	CCDS270.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352977	0.61293	2.27E-4	0.0	ENSG00000158006	ENST00000374282;ENST00000374284	T;T	0.69561	-0.41;-0.41	5.63	0.757	0.18427	.	0.000000	0.64402	D	0.000012	T	0.81054	0.4743	M	0.82056	2.57	0.42507	D	0.99295	D	0.89917	1.0	D	0.91635	0.999	D	0.84883	0.0832	10	0.66056	D	0.02	-22.0736	15.874	0.79148	0.0:0.0:0.7012:0.2988	.	188	Q99487	PAFA2_HUMAN	W	188	ENSP00000363400:R188W;ENSP00000363402:R188W	ENSP00000363400:R188W	R	-	1	2	PAFAH2	26181546	0.998000	0.40836	0.991000	0.47740	0.484000	0.33280	0.355000	0.20163	0.565000	0.29255	0.563000	0.77884	CGG	PAFAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019544.1		-	ENST00000374282.3	Missense_Mutation	SNP	1 : 26308959 - 26308959 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	207	56
ZNF470	388566	broad.mit.edu	37	19	57088168	57088168	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57088168G>A	ENST00000330619.8	+	6	1057	c.371G>A	c.(370-372)aGa>aAa	p.R124K	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.R124K	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		ATAATGGAAAGACTTAAAAGC	0.363		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	19		NA											NA				57088168		2202	4298	6500	SO:0001583	missense			AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016	388566	388566		Zinc fingers, C2H2-type, -	22220	protein-coding gene	gene with protein product					NA	15302581	Standard	NM_001001668	NM_001001668	NA	Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.371G>A	19.37:g.57088168G>A	ENSP00000333223:p.Arg124Lys	NA	A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	37	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	G	2.440	-0.328844	0.05314	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.06142	3.34;3.34	4.03	1.74	0.24563	.	.	.	.	.	T	0.07908	0.0198	L	0.31752	0.955	0.09310	N	1	P	0.44690	0.841	P	0.54210	0.745	T	0.29731	-1.0002	9	0.11794	T	0.64	.	6.0467	0.19764	0.2623:0.0:0.7377:0.0	.	124	Q6ECI4	ZN470_HUMAN	K	124	ENSP00000375590:R124K;ENSP00000333223:R124K	ENSP00000333223:R124K	R	+	2	0	ZNF470	61779980	0.003000	0.15002	0.288000	0.24862	0.032000	0.12392	0.351000	0.20096	0.844000	0.35094	0.585000	0.79938	AGA	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459707.2		+	ENST00000330619.8	Missense_Mutation	SNP	19 : 57088168 - 57088168 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	426	86
TJP3	27134	broad.mit.edu	37	19	3735569	3735569	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3735569G>A	ENST00000541714.2	+	9	1454	c.992G>A	c.(991-993)aGt>aAt	p.S331N	TJP3_ENST00000382008.3_Missense_Mutation_p.S345N|TJP3_ENST00000589378.1_Missense_Mutation_p.S340N|TJP3_ENST00000587686.1_Missense_Mutation_p.S350N|TJP3_ENST00000262968.9_Missense_Mutation_p.S364N|TJP3_ENST00000539908.2_Missense_Mutation_p.S295N	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	345						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCAGGGAGAGTCCCCGGCTT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	102	98			NA	NA	19		NA											NA				3735569		2203	4300	6503	SO:0001583	missense			AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289	27134	27134			11829	protein-coding gene	gene with protein product	zona occludens 3	612689			NA		Standard		NM_001267560	NA	Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.992G>A	19.37:g.3735569G>A	ENSP00000439278:p.Ser331Asn	NA	A6NFP3|Q32N01	37	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	G	0.690	-0.794754	0.02862	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.09255	3.0;3.15;3.04;3.13	3.35	1.06	0.20224	.	1.018930	0.07818	N	0.959273	T	0.08891	0.0220	L	0.29908	0.895	0.24971	N	0.991662	B;B;B;B	0.12630	0.003;0.006;0.003;0.003	B;B;B;B	0.16289	0.005;0.015;0.004;0.005	T	0.39482	-0.9612	10	0.30854	T	0.27	.	9.3428	0.38089	0.0:0.4549:0.5451:0.0	.	350;364;345;331	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	N	331;295;345;364	ENSP00000439278:S331N;ENSP00000439991:S295N;ENSP00000371438:S345N;ENSP00000262968:S364N	ENSP00000262968:S364N	S	+	2	0	TJP3	3686569	0.854000	0.29725	0.539000	0.28077	0.153000	0.21895	1.145000	0.31577	0.377000	0.24735	0.511000	0.50034	AGT	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453434.1		+	ENST00000541714.2	Missense_Mutation	SNP	19 : 3735569 - 3735569 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	784	22
XPO7	23039	broad.mit.edu	37	8	21840243	21840243	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21840243C>T	ENST00000252512.9	+	11	1297	c.1197C>T	c.(1195-1197)ccC>ccT	p.P399P	XPO7_ENST00000434536.1_Silent_p.P408P|XPO7_ENST00000433566.4_Silent_p.P400P	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	399				Missing (in Ref. 3; BAA34465).	mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CCACAGAGCCCCACATGCTGG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	136	136			NA	NA	8		NA											NA				21840243		2029	4195	6224	SO:0001819	synonymous_variant			AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227	23039	23039		Exportins	14108	protein-coding gene	gene with protein product		606140	RAN binding protein 16	RANBP16	NA	11024021, 9872452	Standard	NM_015024	NM_015024	NA	Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.1197C>T	8.37:g.21840243C>T		NA	O94846|Q6PJK9|Q8NEK7	37	CCDS47818.1																																																																																			XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375494.1		+	ENST00000252512.9	Silent	SNP	8 : 21840243 - 21840243 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	481	83
ARMCX5	64860	broad.mit.edu	37	X	101857630	101857630	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101857630G>T	ENST00000604957.1	+	1	3183	c.561G>T	c.(559-561)tgG>tgT	p.W187C	ARMCX5_ENST00000541409.1_Missense_Mutation_p.W187C|ARMCX5_ENST00000537008.1_Missense_Mutation_p.W187C|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000536530.1_Missense_Mutation_p.W187C|ARMCX5_ENST00000246174.2_Missense_Mutation_p.W187C|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000372742.1_Missense_Mutation_p.W187C	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	187							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						CCTGGTTCTGGCCTGAAGAAG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	128	127			NA	NA	X		NA											NA				101857630		2202	4300	6502	SO:0001583	missense				CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962	64860	64860		Armadillo repeat containing	25772	protein-coding gene	gene with protein product					NA	16221301, 22569362	Standard	NM_022838	NM_022838	NA	Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.561G>T	X.37:g.101857630G>T	ENSP00000474720:p.Trp187Cys	NA	B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	37	CCDS14500.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.327715	0.41197	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15	3.59	3.59	0.41128	.	0.000000	0.39274	N	0.001411	T	0.28928	0.0718	L	0.29908	0.895	0.53688	D	0.999974	D	0.76494	0.999	P	0.61275	0.886	T	0.03423	-1.1038	10	0.56958	D	0.05	-3.0791	12.3775	0.55289	0.0:0.0:1.0:0.0	.	187	Q6P1M9	ARMX5_HUMAN	C	187	ENSP00000246174:W187C;ENSP00000439001:W187C;ENSP00000446385:W187C;ENSP00000445851:W187C;ENSP00000361827:W187C	ENSP00000246174:W187C	W	+	3	0	ARMCX5	101744286	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.695000	0.61767	2.069000	0.61940	0.600000	0.82982	TGG	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000469659.1		+	ENST00000604957.1	Missense_Mutation	SNP	X : 101857630 - 101857630 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	524	140
MROH7-TTC4	100527960	broad.mit.edu	37	1	55136215	55136215	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55136215C>T	ENST00000414150.2	+	6	1713	c.1435C>T	c.(1435-1437)Cgc>Tgc	p.R479C	MROH7_ENST00000454855.2_5'UTR|MROH7_ENST00000395690.2_Missense_Mutation_p.R479C|MROH7_ENST00000409996.1_Missense_Mutation_p.R47C|MROH7_ENST00000545244.1_Missense_Mutation_p.R47C|MROH7_ENST00000339553.5_Missense_Mutation_p.R479C|MROH7_ENST00000421030.2_Missense_Mutation_p.R479C					MROH7-TTC4 readthrough (NMD candidate)	NA											NA						AAGCTCCGTCCGCAAGCAGGC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	47	45			NA	NA	1		NA											NA				55136215		2066	4180	6246	SO:0001583	missense					1p32.3	2013-09-25			ENSG00000271723	ENSG00000271723	100527960	100527960			49180	other	readthrough					NA		Standard		NR_037641	NA	Approved				OTTHUMG00000185328	ENST00000414150.2:c.1435C>T	1.37:g.55136215C>T	ENSP00000410192:p.Arg479Cys	NA		37		.	.	.	.	.	.	.	.	.	.	C	17.16	3.317774	0.60524	.	.	ENSG00000184313	ENST00000421030;ENST00000545244;ENST00000414867;ENST00000339553;ENST00000409996;ENST00000395690	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	4.81	3.89	0.44902	Armadillo-like helical (1);	0.298550	0.24037	N	0.042128	T	0.69771	0.3148	M	0.78049	2.395	0.21604	N	0.999622	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.996	T	0.60444	-0.7262	10	0.87932	D	0	-14.4809	10.1245	0.42641	0.0:0.9015:0.0:0.0985	.	479;479;47	F8W8P2;Q68CQ1;F5H7R4	.;HEAT8_HUMAN;.	C	479;47;504;479;47;479	ENSP00000396622:R479C;ENSP00000442333:R47C;ENSP00000343211:R479C;ENSP00000387048:R47C;ENSP00000379044:R479C	ENSP00000343211:R479C	R	+	1	0	HEATR8	54908803	0.056000	0.20664	0.360000	0.25837	0.914000	0.54420	2.084000	0.41625	2.215000	0.71742	0.456000	0.33151	CGC	MROH7-TTC4-004	KNOWN	basic|appris_candidate_longest|readthrough_transcript	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000470197.1		+	ENST00000414150.2	Missense_Mutation	SNP	1 : 55136215 - 55136215 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	136	20
MN1	4330	broad.mit.edu	37	22	28193973	28193973	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28193973C>T	ENST00000302326.4	-	1	3513	c.2559G>A	c.(2557-2559)ccG>ccA	p.P853P		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	853							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TGCCCTCTGGCGGGTTCTTCT	0.652		NA	T	ETV6	AML, meningioma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		L, O	0													72	79	77			NA	NA	22		NA											NA				28193973		1886	4093	5979	SO:0001819	synonymous_variant			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184	4330	4330			7180	protein-coding gene	gene with protein product	probable tumor suppressor protein MN1	156100	meningioma chromosome region	MGCR	NA	7731706, 12569362	Standard	NM_002430	NM_002430	NA	Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.2559G>A	22.37:g.28193973C>T		NA	A9Z1V9	37	CCDS42998.1																																																																																			MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320737.1		-	ENST00000302326.4	Silent	SNP	22 : 28193973 - 28193973 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	664	163
FAM35A	54537	broad.mit.edu	37	10	88930603	88930603	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88930603T>C	ENST00000298786.4	+	6	1949	c.1835T>C	c.(1834-1836)gTa>gCa	p.V612A	FAM35A_ENST00000298784.1_Missense_Mutation_p.V612A			Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	612										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						CCAGAGGCAGTATACAGTTAT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(175;703 2004 25460 32514 43441)							NA				0													54	53	53			NA	NA	10		NA											NA				88930603		2203	4298	6501	SO:0001583	missense			BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376	54537	54537			28773	protein-coding gene	gene with protein product					NA	8619474, 9110174	Standard	NM_019054	NM_019054	NA	Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298786.4:c.1835T>C	10.37:g.88930603T>C	ENSP00000298786:p.Val612Ala	NA	O95885|Q9H991	37		.	.	.	.	.	.	.	.	.	.	t	6.964	0.547799	0.13312	.	.	ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313	T;T;T	0.63580	-0.05;-0.05;-0.05	4.05	1.68	0.24146	.	0.921660	0.09014	N	0.861050	T	0.49423	0.1556	L	0.34521	1.04	0.09310	N	1	B	0.24426	0.103	B	0.25140	0.058	T	0.41770	-0.9490	10	0.48119	T	0.1	0.1994	6.7529	0.23497	0.0:0.2922:0.0:0.7078	.	612	Q86V20	FA35A_HUMAN	A	612	ENSP00000298786:V612A;ENSP00000298784:V612A;ENSP00000351064:V612A	ENSP00000298784:V612A	V	+	2	0	FAM35A	88920583	0.007000	0.16637	0.026000	0.17262	0.969000	0.65631	0.482000	0.22276	0.235000	0.21160	0.491000	0.48974	GTA	FAM35A-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000049197.2		+	ENST00000298786.4	Missense_Mutation	SNP	10 : 88930603 - 88930603 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	319	76
HEG1	57493	broad.mit.edu	37	3	124748188	124748188	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124748188G>A	ENST00000311127.4	-	2	528	c.461C>T	c.(460-462)tCg>tTg	p.S154L		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	154						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TGGAGCATCCGAAGCAGCATG	0.483		NA											G	1	5e-04	0.002	NA	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.8689	EXOME	NA	NA	4e-04	SNP								NA				0													97	90	92			NA	NA	3		NA											NA				124748188		1946	4149	6095	SO:0001583	missense			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706	57493	57493			29227	protein-coding gene	gene with protein product	heart of glass	614182	HEG homolog 1 (zebrafish)		NA	10574462, 19151727, 23007647	Standard	XM_087386	NM_020733	NA	Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.461C>T	3.37:g.124748188G>A	ENSP00000311502:p.Ser154Leu	NA	Q6NX66|Q8NC40|Q9BSV0	37	CCDS46898.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.12	1.546652	0.27652	.	.	ENSG00000173706	ENST00000311127	T	0.51817	0.69	5.65	2.74	0.32292	.	.	.	.	.	T	0.30262	0.0759	N	0.20986	0.625	0.09310	N	1	B;B	0.13145	0.007;0.004	B;B	0.11329	0.006;0.003	T	0.16958	-1.0385	9	0.27082	T	0.32	.	6.6872	0.23152	0.2865:0.0:0.7135:0.0	.	154;154	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	L	154	ENSP00000311502:S154L	ENSP00000311502:S154L	S	-	2	0	HEG1	126230878	0.088000	0.21588	0.065000	0.19835	0.001000	0.01503	0.541000	0.23207	0.963000	0.38082	-0.122000	0.15005	TCG	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355732.2		-	ENST00000311127.4	Missense_Mutation	SNP	3 : 124748188 - 124748188 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	257	45
SIK3	23387	broad.mit.edu	37	11	116718256	116718256	+	Silent	SNP	C	C	T	rs139869704	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:116718256C>T	ENST00000446921.2	-	22	3585	c.3564G>A	c.(3562-3564)tcG>tcA	p.S1188S	SIK3_ENST00000434315.2_Silent_p.S1029S|SIK3_ENST00000292055.4_Silent_p.S1190S|SIK3_ENST00000488337.1_5'UTR|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000375288.1_Silent_p.S525S|SIK3_ENST00000375300.1_Silent_p.S1248S|SIK3_ENST00000542607.1_Silent_p.S1130S	NM_001281749.1	NP_001268678.1	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	1190						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.S1296S(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GAACTGCATCCGACATCCGGG	0.512		NA												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)						C		6,4396	11.4+/-27.6	0,6,2195	180	162	168		3570	-7.1	1	11	dbSNP_134	168	0,8584		0,0,4292	no	coding-synonymous	SIK3	NM_025164.3		0,6,6487	TT,TC,CC	NA	0.0,0.1363,0.0462		1190/1264	116718256	6,12980	2201	4292	6493	SO:0001819	synonymous_variant			AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584	23387	23387			29165	protein-coding gene	gene with protein product		614776			NA	10231032, 8889548	Standard	NM_025164	NM_025164	NA	Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000446921.2:c.3564G>A	11.37:g.116718256C>T		NA	Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	37		.	.	.	.	.	.	.	.	.	.	C	7.504	0.653220	0.14580	0.001363	0.0	ENSG00000160584	ENST00000445177;ENST00000454905;ENST00000446921	.	.	.	4.92	-7.05	0.01573	.	.	.	.	.	T	0.35189	0.0923	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45101	-0.9284	4	.	.	.	.	1.8087	0.03086	0.2159:0.3505:0.2393:0.1943	.	.	.	.	R	1290;30;1153	.	.	G	-	1	0	SIK3	116223466	0.000000	0.05858	0.979000	0.43373	0.762000	0.43233	-3.221000	0.00552	-0.691000	0.05135	-1.113000	0.02065	GGA	SIK3-014	KNOWN	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000319396.2		-	ENST00000446921.2	Silent	SNP	11 : 116718256 - 116718256 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	907	142
CCDC88B	283234	broad.mit.edu	37	11	64111522	64111522	+	Missense_Mutation	SNP	G	G	T	rs149069335	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64111522G>T	ENST00000356786.5	+	14	1553	c.1509G>T	c.(1507-1509)gaG>gaT	p.E503D	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	503					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGCTGGAGGAGGCTCCCCAGA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	39	38			NA	NA	11		NA											NA				64111522		2200	4297	6497	SO:0001583	missense			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071	283234	283234			26757	protein-coding gene	gene with protein product	brain leucine zipper protein, GRP78-interacting protein induced by ER stress	611205	coiled-coil domain containing 88	CCDC88	NA	15882442, 21289099	Standard	NM_032251	NM_032251	NA	Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.1509G>T	11.37:g.64111522G>T	ENSP00000349238:p.Glu503Asp	NA	A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	37	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	g	9.265	1.044196	0.19748	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.23147	1.92	3.19	-4.77	0.03219	.	.	.	.	.	T	0.11324	0.0276	N	0.14661	0.345	0.18873	N	0.999987	B;B;B	0.25169	0.094;0.119;0.094	B;B;B	0.19666	0.026;0.024;0.026	T	0.26155	-1.0111	9	0.59425	D	0.04	.	3.9414	0.09329	0.2302:0.0:0.2344:0.5354	.	503;152;503	B2RTU8;A6NC98-3;A6NC98	.;.;CC88B_HUMAN	D	503	ENSP00000349238:E503D	ENSP00000349238:E503D	E	+	3	2	CCDC88B	63868098	0.000000	0.05858	0.001000	0.08648	0.057000	0.15508	-0.247000	0.08866	-0.922000	0.03789	0.456000	0.33151	GAG	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000104845.1		+	ENST00000356786.5	Missense_Mutation	SNP	11 : 64111522 - 64111522 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	50
TMA16	55319	broad.mit.edu	37	4	164434003	164434003	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:164434003A>C	ENST00000358572.5	+	3	487	c.146A>C	c.(145-147)aAc>aCc	p.N49T	TMA16_ENST00000511562.1_3'UTR|TMA16_ENST00000508268.1_Missense_Mutation_p.N49T|TMA16_ENST00000513272.1_Missense_Mutation_p.N49T|TMA16_ENST00000513134.1_Missense_Mutation_p.N49T	NM_018352.2	NP_060822.2	Q96EY4	CD043_HUMAN	translation machinery associated 16 homolog (S. cerevisiae)	49											NA						TTGCGTCTCAACCTTGTTGGT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	90	91			NA	NA	4		NA											NA				164434003		1808	4074	5882	SO:0001583	missense				CCDS43278.1	4q32.3	2012-03-02	2012-03-02	2012-03-02	ENSG00000198498	ENSG00000198498	55319	55319			25638	protein-coding gene	gene with protein product			chromosome 4 open reading frame 43	C4orf43	NA	12477932	Standard	NM_018352	NM_018352	NA	Approved	FLJ11184	uc003iqq.4	Q96EY4	OTTHUMG00000161528	ENST00000358572.5:c.146A>C	4.37:g.164434003A>C	ENSP00000351380:p.Asn49Thr	NA	Q0P6E4|Q0P6J1|Q9NUR7	37	CCDS43278.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.62|15.62	2.887367|2.887367	0.52014|0.52014	.|.	.|.	ENSG00000198498|ENSG00000198498	ENST00000358572;ENST00000513272;ENST00000513134;ENST00000508268|ENST00000509657	T;T;T;T|.	0.30448|.	1.53;1.53;1.53;1.53|.	5.84|5.84	2.09|2.09	0.27110|0.27110	.|.	0.120016|.	0.85682|.	D|.	0.000000|.	T|T	0.64527|0.64527	0.2606|0.2606	M|M	0.76002|0.76002	2.32|2.32	0.44643|0.44643	D|D	0.997624|0.997624	B|.	0.30634|.	0.288|.	B|.	0.30105|.	0.111|.	T|T	0.59648|0.59648	-0.7415|-0.7415	10|5	0.14656|.	T|.	0.56|.	-20.6068|-20.6068	8.5245|8.5245	0.33296|0.33296	0.613:0.0:0.387:0.0|0.613:0.0:0.387:0.0	.|.	49|.	Q96EY4|.	CD043_HUMAN|.	T|H	49|87	ENSP00000351380:N49T;ENSP00000426933:N49T;ENSP00000423901:N49T;ENSP00000423375:N49T|.	ENSP00000351380:N49T|.	N|Q	+|+	2|3	0|2	C4orf43|C4orf43	164653453|164653453	0.940000|0.940000	0.31905|0.31905	0.977000|0.977000	0.42913|0.42913	0.838000|0.838000	0.47535|0.47535	0.681000|0.681000	0.25320|0.25320	0.146000|0.146000	0.19002|0.19002	-0.263000|-0.263000	0.10527|0.10527	AAC|CAA	TMA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365208.1		+	ENST00000358572.5	Missense_Mutation	SNP	4 : 164434003 - 164434003 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	338	71
PARP10	84875	broad.mit.edu	37	8	145057668	145057668	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145057668C>A	ENST00000524918.1	-	8	2148	c.2062G>T	c.(2062-2064)Gag>Tag	p.E688*	PARP10_ENST00000525773.1_Nonsense_Mutation_p.E709*|PARP10_ENST00000313028.7_Nonsense_Mutation_p.E697*			Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	697	Glu-rich.					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-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;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCTGGGGGCTCTTCTGCCTCC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	13	13			NA	NA	8		NA											NA				145057668		2198	4295	6493	SO:0001587	stop_gained			AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685	84875	84875		Poly (ADP-ribose) polymerases	25895	protein-coding gene	gene with protein product		609564			NA	15273990	Standard	NM_032789	NM_032789	NA	Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000524918.1:c.2062G>T	8.37:g.145057668C>A	ENSP00000431620:p.Glu688*	NA	Q8N2I0|Q8WV05|Q96CH7	37		.	.	.	.	.	.	.	.	.	.	C	18.68	3.675280	0.67928	.	.	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773	.	.	.	4.04	2.14	0.27477	.	0.750699	0.11574	N	0.550478	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	4.8845	0.13696	0.0:0.6573:0.2226:0.1201	.	.	.	.	X	688;403;697;709	.	ENSP00000325618:E697X	E	-	1	0	PARP10	145129656	0.003000	0.15002	0.002000	0.10522	0.023000	0.10783	0.905000	0.28504	1.011000	0.39340	0.639000	0.83563	GAG	PARP10-004	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000383865.1		-	ENST00000524918.1	Nonsense_Mutation	SNP	8 : 145057668 - 145057668 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	83	19
COPB1	1315	broad.mit.edu	37	11	14504589	14504589	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14504589G>A	ENST00000249923.3	-	8	1246	c.946C>T	c.(946-948)Cga>Tga	p.R316*	COPB1_ENST00000439561.2_Nonsense_Mutation_p.R316*	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	316					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TGTAGTACTCGTTCATGAGCA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	76	77			NA	NA	11		NA											NA				14504589		2199	4294	6493	SO:0001587	stop_gained			BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083	1315	1315			2231	protein-coding gene	gene with protein product		600959	coatomer protein complex, subunit beta	COPB	NA	7982906	Standard	NM_016451	NM_016451	NA	Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.946C>T	11.37:g.14504589G>A	ENSP00000249923:p.Arg316*	NA	D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	37	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	G	38	7.098576	0.98063	.	.	ENSG00000129083	ENST00000249923;ENST00000439561;ENST00000534234	.	.	.	5.56	2.38	0.29361	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3051	0.66380	0.0:0.0:0.5008:0.4992	.	.	.	.	X	316	.	ENSP00000249923:R316X	R	-	1	2	COPB1	14461165	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	3.868000	0.56055	0.649000	0.30751	0.591000	0.81541	CGA	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386410.1		-	ENST00000249923.3	Nonsense_Mutation	SNP	11 : 14504589 - 14504589 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	240	35
GALNT9	50614	broad.mit.edu	37	12	132681759	132681759	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132681759C>T	ENST00000328957.8	-	11	1704	c.1705G>A	c.(1705-1707)Gag>Aag	p.E569K	GALNT9_ENST00000535228.1_Missense_Mutation_p.E320K|GALNT9_ENST00000541995.1_Missense_Mutation_p.E203K|GALNT9_ENST00000397325.2_Missense_Mutation_p.E203K	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9	569	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		ATCTCCACCTCCAGGCAGCGG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(186;2147 2752 13553 41466)							NA				0													54	64	60			NA	NA	12		NA											NA				132681759		2070	4212	6282	SO:0001583	missense			AB040672	CCDS41866.1	12q24.33	2014-03-13	2014-03-13		ENSG00000182870	ENSG00000182870	50614	50614	2.4.1.41	Glycosyltransferase family 2 domain containing	4131	protein-coding gene	gene with protein product	polypeptide GalNAc transferase 9	606251	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)		NA	10978536, 12407114	Standard	NM_001122636	NM_021808	NA	Approved	GALNAC-T9	uc001ukc.4	Q9HCQ5	OTTHUMG00000168256	ENST00000328957.8:c.1705G>A	12.37:g.132681759C>T	ENSP00000329846:p.Glu569Lys	NA	Q52LR8|Q6NT54|Q8NFR1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	34|34	5.330857|5.330857	0.95733|0.95733	.|.	.|.	ENSG00000182870|ENSG00000182870	ENST00000397325;ENST00000328957;ENST00000535228;ENST00000541995|ENST00000411988	T;T;T;T|.	0.29397|.	1.57;1.57;1.57;1.57|.	4.45|4.45	4.45|4.45	0.53987|0.53987	Ricin B-related lectin (1);Ricin B lectin (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77329|0.77329	0.4114|0.4114	M|M	0.80332|0.80332	2.49|2.49	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;1.0;0.999|.	T|T	0.79964|0.79964	-0.1581|-0.1581	10|5	0.42905|.	T|.	0.14|.	.|.	17.0974|17.0974	0.86639|0.86639	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	320;569;426|.	B3KNR7;Q9HCQ5;B3KP58|.	.;GALT9_HUMAN;.|.	K|E	203;569;320;203|341	ENSP00000380488:E203K;ENSP00000329846:E569K;ENSP00000439745:E320K;ENSP00000440544:E203K|.	ENSP00000329846:E569K|.	E|G	-|-	1|2	0|0	GALNT9|GALNT9	131247712|131247712	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	7.545000|7.545000	0.82128|0.82128	1.997000|1.997000	0.58415|0.58415	0.457000|0.457000	0.33378|0.33378	GAG|GGA	GALNT9-009	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000402967.1		-	ENST00000328957.8	Missense_Mutation	SNP	12 : 132681759 - 132681759 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	66
SLC25A35	399512	broad.mit.edu	37	17	8197811	8197811	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8197811G>A	ENST00000380067.2	-	1	359	c.315C>T	c.(313-315)agC>agT	p.S105S	SLC25A35_ENST00000579192.1_Silent_p.S105S|SLC25A35_ENST00000577745.1_Silent_p.S105S|SLC25A35_ENST00000580340.1_Silent_p.S105S|SLC25A35_ENST00000396278.1_Silent_p.S105S	NM_201520.1	NP_958928.1	Q3KQZ1	S2535_HUMAN	solute carrier family 25, member 35	105					transport	integral to membrane|mitochondrial inner membrane				breast(2)|large_intestine(2)|lung(2)	6						CAGCTGCTGCGCTGCGGGCAG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		3,4371		0,3,2184	25	25	25		315	-3.5	0.9	17		25	0,8522		0,0,4261	no	coding-synonymous	SLC25A35	NM_201520.1		0,3,6445	AA,AG,GG	NA	0.0,0.0686,0.0233		105/296	8197811	3,12893	2187	4261	6448	SO:0001819	synonymous_variant			AY498866	CCDS11138.1	17p13.1	2013-05-22			ENSG00000125434	ENSG00000125434	399512	399512		Solute carriers	31921	protein-coding gene	gene with protein product		610818			NA		Standard	NM_201520	NM_201520	NA	Approved	FLJ40217	uc002gku.1	Q3KQZ1		ENST00000380067.2:c.315C>T	17.37:g.8197811G>A		NA	Q494X5|Q6RGS3|Q8N7Y5	37	CCDS11138.1																																																																																			SLC25A35-003	KNOWN	alternative_3_UTR|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442142.1		-	ENST00000380067.2	Silent	SNP	17 : 8197811 - 8197811 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	288	43
L3MBTL4	91133	broad.mit.edu	37	18	5969448	5969448	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:5969448G>A	ENST00000284898.6	-	18	1785	c.1585C>T	c.(1585-1587)Ctt>Ttt	p.L529F	L3MBTL4_ENST00000535782.1_Missense_Mutation_p.L333F|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.L520F|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.L529F	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	529					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				ACGCCTGGAAGCAACTTGCAG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(41;748 902 17366 28959 43175)							NA				0													56	65	62			NA	NA	18		NA											NA				5969448		2130	4243	6373	SO:0001583	missense			BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655	91133	91133		Sterile alpha motif (SAM) domain containing	26677	protein-coding gene	gene with protein product					NA	14702039	Standard	NM_173464	NM_173464	NA	Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.1585C>T	18.37:g.5969448G>A	ENSP00000284898:p.Leu529Phe	NA	A8MTL8|Q8IXS3	37	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	G	24.7	4.565267	0.86439	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782	T;T;T;T	0.19394	2.15;2.15;2.15;2.16	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000019	T	0.47248	0.1435	M	0.76170	2.325	0.46954	D	0.99926	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.43065	-0.9414	10	0.59425	D	0.04	.	14.9777	0.71286	0.0:0.0:1.0:0.0	.	529;520	Q8NA19;F8W9S8	LMBL4_HUMAN;.	F	529;520;529;333	ENSP00000382976:L529F;ENSP00000318543:L520F;ENSP00000284898:L529F;ENSP00000444774:L333F	ENSP00000284898:L529F	L	-	1	0	L3MBTL4	5959448	1.000000	0.71417	0.997000	0.53966	0.876000	0.50452	6.371000	0.73119	2.586000	0.87340	0.655000	0.94253	CTT	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254448.2		-	ENST00000284898.6	Missense_Mutation	SNP	18 : 5969448 - 5969448 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	482	47
C2orf47	79568	broad.mit.edu	37	2	200824039	200824039	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200824039T>C	ENST00000392290.1	+	2	695	c.499T>C	c.(499-501)Ttg>Ctg	p.L167L	C2orf47_ENST00000469156.1_3'UTR|C2orf47_ENST00000295079.2_Silent_p.L167L			Q8WWC4	CB047_HUMAN	chromosome 2 open reading frame 47	167						mitochondrion				cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						ATTTGATCTGTTGGAAGAACT	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	157	156			NA	NA	2		NA											NA				200824039		2203	4300	6503	SO:0001819	synonymous_variant			BC017959	CCDS2329.1	2q33.1	2011-03-08			ENSG00000162972	ENSG00000162972	79568	79568			26198	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024520	NM_024520	NA	Approved	DKFZp666A212, FLJ22555	uc002uvm.3	Q8WWC4	OTTHUMG00000132771	ENST00000392290.1:c.499T>C	2.37:g.200824039T>C		NA	Q658V9|Q9H671	37	CCDS2329.1																																																																																			C2orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256146.1		+	ENST00000392290.1	Silent	SNP	2 : 200824039 - 200824039 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	492	14
LSM14A	26065	broad.mit.edu	37	19	34710699	34710699	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34710699C>T	ENST00000540746.2	+	7	1048	c.930C>T	c.(928-930)gcC>gcT	p.A310A	LSM14A_ENST00000433627.5_Silent_p.A351A|LSM14A_ENST00000544216.3_Silent_p.A351A			Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	351	DFDF.				cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					AAGGAAATGCCGATGAAGAAG	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	81	83			NA	NA	19		NA											NA				34710699		2203	4300	6503	SO:0001819	synonymous_variant			AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103	26065	26065			24489	protein-coding gene	gene with protein product		610677	chromosome 19 open reading frame 13, family with sequence similarity 61, member A, LSM14 homolog A (SCD6, S. cerevisiae)	C19orf13, FAM61A	NA	12477932	Standard	NM_015578	NM_015578	NA	Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000540746.2:c.930C>T	19.37:g.34710699C>T		NA	Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	37																																																																																				LSM14A-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000451575.2		+	ENST00000540746.2	Silent	SNP	19 : 34710699 - 34710699 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	190	37
RABGAP1L	9910	broad.mit.edu	37	1	174241551	174241551	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:174241551G>A	ENST00000251507.4	+	8	1160		c.e8-1		RABGAP1L_ENST00000367689.3_Splice_Site|RABGAP1L_ENST00000357444.6_Splice_Site	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	NA					regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						AATATTTTCAGATGTTTTGGA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	142	144			NA	NA	1		NA											NA				174241551		2203	4297	6500	SO:0001630	splice_region_variant			AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061	9910	9910			24663	protein-coding gene	gene with protein product		609238			NA	10585558	Standard	NM_001243765	NM_014857	NA	Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.987-1G>A	1.37:g.174241551G>A		NA	O75059|Q3ZTR8|Q5R369|Q8IVV0|Q8N921|Q8WV78|Q9NSP8|Q9UQ19|Q9UQP5|Q9Y6Y5|Q9Y6Y6	37	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	G	31	5.092449	0.94149	.	.	ENSG00000152061	ENST00000357444;ENST00000251507;ENST00000457696;ENST00000367692	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8885	0.96919	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RABGAP1L	172508174	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.904000	0.92590	2.700000	0.92200	0.563000	0.77884	.	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084497.1	Intron	+	ENST00000251507.4	Splice_Site	SNP	1 : 174241551 - 174241551 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	556	97
DNAH17	8632	broad.mit.edu	37	17	76430117	76430117	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76430117T>C	ENST00000585328.1	-	75	12327	c.12203A>G	c.(12202-12204)aAc>aGc	p.N4068S	DNAH17_ENST00000389840.5_Missense_Mutation_p.N4067S|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3			dynein, axonemal, heavy chain 17	NA										NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CACCTTGGGGTTGGCCTCCAG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													225	183	198			NA	NA	17		NA											NA				76430117		2203	4300	6503	SO:0001583	missense			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775	8632	8632		Axonemal dyneins	2946	protein-coding gene	gene with protein product		610063	dynein, axonemal, heavy polypeptide 17, dynein, axonemal, heavy chain like 1, dynein, axonemal, heavy like 1	DNAHL1	NA	9545504	Standard	NM_173628	NM_173628	NA	Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.12203A>G	17.37:g.76430117T>C	ENSP00000465516:p.Asn4068Ser	NA		37		.	.	.	.	.	.	.	.	.	.	T	16.15	3.040736	0.55003	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.08896	3.04	5.64	4.57	0.56435	.	0.184935	0.37669	N	0.002000	T	0.10465	0.0256	L	0.45137	1.4	0.39459	D	0.96753	B	0.31790	0.34	B	0.38056	0.264	T	0.14811	-1.0459	10	0.35671	T	0.21	.	11.5876	0.50927	0.0:0.0698:0.0:0.9301	.	4068	E7EUM8	.	S	4068;4067	ENSP00000374490:N4067S	ENSP00000300671:N4068S	N	-	2	0	DNAH17	73941712	1.000000	0.71417	0.987000	0.45799	0.994000	0.84299	7.891000	0.87319	0.990000	0.38787	0.454000	0.30748	AAC	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000318962.2		-	ENST00000585328.1	Missense_Mutation	SNP	17 : 76430117 - 76430117 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	789	133
MYH13	8735	broad.mit.edu	37	17	10212991	10212991	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10212991G>A	ENST00000418404.3	-	33	4976	c.4813C>T	c.(4813-4815)Ctg>Ttg	p.L1605L	MYH13_ENST00000252172.4_Silent_p.L1605L|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1605					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCAGCATCCAGCACGCTCTGC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	54	53			NA	NA	17		NA											NA				10212991		2167	4282	6449	SO:0001819	synonymous_variant			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788	8735	8735		Myosins / Myosin superfamily : Class II	7571	protein-coding gene	gene with protein product	extraocular muscle myosin heavy chain, extraocular myosin heavy chain	603487	myosin, heavy polypeptide 13, skeletal muscle		NA	9806854	Standard	NM_003802	NM_003802	NA	Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4813C>T	17.37:g.10212991G>A		NA	O95252	37	CCDS45613.1																																																																																			MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442255.1		-	ENST00000418404.3	Silent	SNP	17 : 10212991 - 10212991 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	85	17
GRPEL1	80273	broad.mit.edu	37	4	7062618	7062618	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7062618C>T	ENST00000264954.4	-	4	789	c.625G>A	c.(625-627)Gcc>Acc	p.A209T		NM_025196.2	NP_079472.1	Q9HAV7	GRPE1_HUMAN	GrpE-like 1, mitochondrial (E. coli)	209					protein folding|protein import into mitochondrial matrix	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CCCACCAGGGCGGGTCTCAGA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	152	147			NA	NA	4		NA											NA				7062618		2203	4300	6503	SO:0001583	missense			AF070525	CCDS3396.1	4p16	2008-02-05			ENSG00000109519	ENSG00000109519	80273	80273			19696	protein-coding gene	gene with protein product		606173			NA	11311562	Standard	NM_025196	NM_025196	NA	Approved	HMGE, FLJ25609	uc003gjy.1	Q9HAV7	OTTHUMG00000090495	ENST00000264954.4:c.625G>A	4.37:g.7062618C>T	ENSP00000264954:p.Ala209Thr	NA	B2R783|Q549M6	37	CCDS3396.1	.	.	.	.	.	.	.	.	.	.	C	36	5.734855	0.96865	.	.	ENSG00000109519	ENST00000264954;ENST00000429301	.	.	.	5.65	5.65	0.86999	GrpE nucleotide exchange factor, head (2);	0.000000	0.85682	D	0.000000	D	0.86900	0.6044	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89449	0.3729	9	0.87932	D	0	.	19.7319	0.96186	0.0:1.0:0.0:0.0	.	209	Q9HAV7	GRPE1_HUMAN	T	209;188	.	ENSP00000264954:A209T	A	-	1	0	GRPEL1	7113519	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	7.305000	0.78891	2.659000	0.90383	0.561000	0.74099	GCC	GRPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206983.2		-	ENST00000264954.4	Missense_Mutation	SNP	4 : 7062618 - 7062618 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1053	46
CHD9	80205	broad.mit.edu	37	16	53288395	53288395	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53288395G>A	ENST00000566029.1	+	18	4116	c.3907G>A	c.(3907-3909)Gtc>Atc	p.V1303I	CHD9_ENST00000564845.1_Missense_Mutation_p.V1303I|CHD9_ENST00000447540.1_Missense_Mutation_p.V1303I|CHD9_ENST00000398510.3_Missense_Mutation_p.V1303I			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1303	Helicase C-terminal.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AGCAGTTAAAGTCTACAGACT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ILE/VAL	1,3715		0,1,1857	179	172	174		3907	5.5	1	16		174	0,8206		0,0,4103	no	missense	CHD9	NM_025134.4	29	0,1,5960	AA,AG,GG	NA	0.0,0.0269,0.0084	possibly-damaging	1303/2882	53288395	1,11921	1858	4103	5961	SO:0001583	missense			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200	80205	80205			25701	protein-coding gene	gene with protein product					NA	9205841	Standard	NM_025134	XM_005256168	NA	Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000566029.1:c.3907G>A	16.37:g.53288395G>A	ENSP00000457466:p.Val1303Ile	NA	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	37	CCDS45485.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573962	0.65765	2.69E-4	0.0	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	T;T	0.76968	-1.06;-1.06	5.48	5.48	0.80851	Helicase, C-terminal (1);	0.000000	0.51477	D	0.000092	D	0.82788	0.5113	L	0.41124	1.26	0.80722	D	1	B;P;D;D	0.61697	0.068;0.678;0.984;0.99	B;B;D;D	0.73380	0.05;0.421;0.956;0.98	T	0.76961	-0.2765	10	0.13470	T	0.59	-8.3751	19.3515	0.94389	0.0:0.0:1.0:0.0	.	829;1303;1303;1303	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	I	1303;1303;829	ENSP00000396345:V1303I;ENSP00000381522:V1303I	ENSP00000219084:V829I	V	+	1	0	CHD9	51845896	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.728000	0.74769	2.580000	0.87095	0.650000	0.86243	GTC	CHD9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000422338.1		+	ENST00000566029.1	Missense_Mutation	SNP	16 : 53288395 - 53288395 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	841	140
ASPM	259266	broad.mit.edu	37	1	197072431	197072431	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197072431G>T	ENST00000367409.4	-	18	6206	c.5950C>A	c.(5950-5952)Cat>Aat	p.H1984N	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1984	IQ 13.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGTTGCACATGCATTCTATAG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	165	166			NA	NA	1		NA											NA				197072431		2203	4299	6502	SO:0001583	missense			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279	259266	259266			19048	protein-coding gene	gene with protein product		605481	microcephaly, primary autosomal recessive 5, asp (abnormal spindle)-like, microcephaly associated (Drosophila)	MCPH5	NA	11078481	Standard	NM_018136	NM_018136	NA	Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5950C>A	1.37:g.197072431G>T	ENSP00000356379:p.His1984Asn	NA	Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	g	17.90	3.501171	0.64298	.	.	ENSG00000066279	ENST00000367409	T	0.27720	1.65	5.6	-3.33	0.04958	.	0.583413	0.16663	N	0.204686	T	0.42314	0.1197	M	0.75264	2.295	0.80722	D	1	P	0.38048	0.616	P	0.48334	0.574	T	0.51834	-0.8655	10	0.46703	T	0.11	.	15.0708	0.72034	0.2856:0.0:0.7144:0.0	.	1984	Q8IZT6	ASPM_HUMAN	N	1984	ENSP00000356379:H1984N	ENSP00000356379:H1984N	H	-	1	0	ASPM	195339054	0.980000	0.34600	0.072000	0.20136	0.991000	0.79684	0.295000	0.19065	-0.614000	0.05687	0.645000	0.84053	CAT	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088256.1		-	ENST00000367409.4	Missense_Mutation	SNP	1 : 197072431 - 197072431 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	935	196
FNDC1	84624	broad.mit.edu	37	6	159654115	159654115	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159654115C>A	ENST00000297267.9	+	11	2771	c.2571C>A	c.(2569-2571)gcC>gcA	p.A857A	FNDC1_ENST00000340366.6_Silent_p.A794A	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	857						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCTCCCGAGCCCACCCCAGGG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	28	26			NA	NA	6		NA											NA				159654115		1964	4148	6112	SO:0001819	synonymous_variant			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694	84624	84624		Fibronectin type III domain containing	21184	protein-coding gene	gene with protein product		609991	fibronectin type III domain containing 2	FNDC2	NA	11347906	Standard	NM_032532	NM_032532	NA	Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2571C>A	6.37:g.159654115C>A		NA	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	37	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	C	5.207	0.223786	0.09863	.	.	ENSG00000164694	ENST00000329629	.	.	.	4.0	-2.74	0.05932	.	.	.	.	.	T	0.11452	0.0279	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34004	-0.9846	4	.	.	.	-3.3958	6.0495	0.19777	0.0:0.286:0.4831:0.2309	.	.	.	.	T	753	.	.	P	+	1	0	FNDC1	159574105	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.894000	0.04123	-0.518000	0.06452	0.655000	0.94253	CCA	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042897.3		+	ENST00000297267.9	Silent	SNP	6 : 159654115 - 159654115 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	99	27
S1PR4	8698	broad.mit.edu	37	19	3179636	3179636	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3179636C>T	ENST00000246115.3	+	1	901	c.846C>T	c.(844-846)gcC>gcT	p.A282A		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	282					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						ACCTCTGGGCCCAGGAGTACC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(82;318 1638 33279 49708)							NA				0													76	76	76			NA	NA	19		NA											NA				3179636		2203	4300	6503	SO:0001819	synonymous_variant			AJ000479	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910	8698	8698		GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate	3170	protein-coding gene	gene with protein product		603751	endothelial differentiation, G-protein-coupled receptor 6, endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6	EDG6	NA	9790765	Standard	NM_003775	NM_003775	NA	Approved		uc002lxg.3	O95977		ENST00000246115.3:c.846C>T	19.37:g.3179636C>T		NA	D6W612	37	CCDS12105.1																																																																																			S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452517.1		+	ENST00000246115.3	Silent	SNP	19 : 3179636 - 3179636 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	882	81
CDX4	1046	broad.mit.edu	37	X	72667226	72667226	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:72667226C>T	ENST00000373514.2	+	1	137	c.137C>T	c.(136-138)gCg>gTg	p.A46V		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	46						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					AATTTCGCTGCGGCACCGGCT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	37	38			NA	NA	X		NA											NA				72667226		2203	4300	6503	SO:0001583	missense			AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264	1046	1046		Homeoboxes / ANTP class : HOXL subclass	1808	protein-coding gene	gene with protein product		300025	caudal type homeo box transcription factor 4		NA	7655457	Standard	NM_005193	NM_005193	NA	Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.137C>T	X.37:g.72667226C>T	ENSP00000362613:p.Ala46Val	NA	A1A513|Q5JS20	37	CCDS14424.1	.	.	.	.	.	.	.	.	.	.	.	3.372	-0.128297	0.06753	.	.	ENSG00000131264	ENST00000373514	T	0.48522	0.81	2.57	1.69	0.24217	Caudal-like activation domain (1);	0.315565	0.30630	N	0.009220	T	0.37019	0.0988	L	0.41961	1.31	0.23162	N	0.9982	B	0.09022	0.002	B	0.09377	0.004	T	0.27971	-1.0058	10	0.48119	T	0.1	-4.2406	9.9804	0.41811	0.0:0.8693:0.0:0.1307	.	46	O14627	CDX4_HUMAN	V	46	ENSP00000362613:A46V	ENSP00000362613:A46V	A	+	2	0	CDX4	72583951	0.988000	0.35896	0.003000	0.11579	0.005000	0.04900	4.335000	0.59298	0.078000	0.16900	-1.701000	0.00721	GCG	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057229.2		+	ENST00000373514.2	Missense_Mutation	SNP	X : 72667226 - 72667226 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	160	16
DCPS	28960	broad.mit.edu	37	11	126215338	126215338	+	Missense_Mutation	SNP	G	G	A	rs35029167		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126215338G>A	ENST00000263579.4	+	6	1173	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	DCPS_ENST00000530860.1_3'UTR	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	282					deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		GCACTTCACCGCCCTGGGCTT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	112	127			NA	NA	11		NA											NA				126215338		2201	4298	6499	SO:0001583	missense			AF077201	CCDS8473.1	11q24	2008-02-05			ENSG00000110063	ENSG00000110063	28960	28960			29812	protein-coding gene	gene with protein product		610534			NA	12198172, 14523240	Standard	NM_014026	NM_014026	NA	Approved	HSPC015, HINT-5, HSL1	uc001qdp.3	Q96C86	OTTHUMG00000165829	ENST00000263579.4:c.844G>A	11.37:g.126215338G>A	ENSP00000263579:p.Ala282Thr	NA	Q8NHL8|Q9Y2S5	37	CCDS8473.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637183	0.67130	.	.	ENSG00000110063	ENST00000263579	D	0.95821	-3.82	5.16	5.16	0.70880	Histidine triad, conserved site (1);Histidine triad-like motif (1);	0.367893	0.30969	N	0.008519	D	0.95201	0.8444	L	0.43152	1.355	0.43122	D	0.994846	D	0.64830	0.994	P	0.53954	0.738	D	0.93806	0.7105	10	0.23302	T	0.38	-15.2573	18.7289	0.91726	0.0:0.0:1.0:0.0	.	282	Q96C86	DCPS_HUMAN	T	282	ENSP00000263579:A282T	ENSP00000263579:A282T	A	+	1	0	DCPS	125720548	0.997000	0.39634	0.997000	0.53966	0.787000	0.44495	4.946000	0.63576	2.421000	0.82119	0.555000	0.69702	GCC	DCPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386455.1		+	ENST00000263579.4	Missense_Mutation	SNP	11 : 126215338 - 126215338 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	725	127
SPTBN1	6711	broad.mit.edu	37	2	54856651	54856651	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54856651G>A	ENST00000333896.5	+	13	2726	c.2341G>A	c.(2341-2343)Gcc>Acc	p.A781T	SPTBN1_ENST00000356805.4_Missense_Mutation_p.A794T	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	794					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GGAAGAGATCGCCAATTACAG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	92	93			NA	NA	2		NA											NA				54856651		2203	4300	6503	SO:0001583	missense				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306	NA	6711		Pleckstrin homology (PH) domain containing	11275	protein-coding gene	gene with protein product		182790			NA		Standard		NM_003128	NA	Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000333896.5:c.2341G>A	2.37:g.54856651G>A	ENSP00000334156:p.Ala781Thr	NA	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	37	CCDS33199.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987641	0.35036	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.53640	0.61;0.61	5.78	3.87	0.44632	.	0.312640	0.34088	N	0.004274	T	0.40645	0.1125	L	0.50333	1.59	0.33051	D	0.532808	B;B	0.28713	0.037;0.22	B;B	0.33568	0.103;0.166	T	0.47911	-0.9080	10	0.25751	T	0.34	.	7.98	0.30177	0.0894:0.0:0.7519:0.1587	.	781;794	Q01082-3;Q01082	.;SPTB2_HUMAN	T	794;781	ENSP00000349259:A794T;ENSP00000334156:A781T	ENSP00000334156:A781T	A	+	1	0	SPTBN1	54710155	0.927000	0.31430	1.000000	0.80357	0.661000	0.39034	1.759000	0.38420	0.670000	0.31165	0.655000	0.94253	GCC	SPTBN1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258117.1		+	ENST00000333896.5	Missense_Mutation	SNP	2 : 54856651 - 54856651 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	645	112
KALRN	8997	broad.mit.edu	37	3	124117671	124117671	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124117671C>A	ENST00000240874.3	+	13	2450	c.2293C>A	c.(2293-2295)Ctg>Atg	p.L765M	KALRN_ENST00000460856.1_Missense_Mutation_p.L765M|KALRN_ENST00000360013.3_Missense_Mutation_p.L765M	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	765					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GAAGATCAAGCTGGACATCTT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	81	88			NA	NA	3		NA											NA				124117671		2203	4300	6503	SO:0001583	missense			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145	8997	8997		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	4814	protein-coding gene	gene with protein product	serine/threonine kinase with Dbl and pleckstrin homology domains	604605	huntingtin-associated protein interacting protein (duo)	HAPIP	NA	9285789, 10023074	Standard	NM_003947	NM_001024660	NA	Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.2293C>A	3.37:g.124117671C>A	ENSP00000240874:p.Leu765Met	NA	A8MSI4|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	37	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.8|29.8	5.038179|5.038179	0.93630|0.93630	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	D;D;D|.	0.89681|.	-2.55;-2.55;-2.55|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.000000|.	0.64402|.	D|.	0.000018|.	T|T	0.73877|0.73877	0.3643|0.3643	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;0.998;1.0|.	D;D;D;D|.	0.97110|.	0.999;0.989;0.994;1.0|.	T|T	0.70949|0.70949	-0.4733|-0.4733	10|5	0.48119|.	T|.	0.1|.	.|.	19.1727|19.1727	0.93585|0.93585	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	765;111;765;765|.	C9IZQ6;F2Z3Q6;O60229;O60229-2|.	.;.;KALRN_HUMAN;.|.	M|R	765|742	ENSP00000418611:L765M;ENSP00000240874:L765M;ENSP00000353109:L765M|.	ENSP00000240874:L765M|.	L|S	+|+	1|3	2|2	KALRN|KALRN	125600361|125600361	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.651000|7.651000	0.83577|0.83577	2.779000|2.779000	0.95612|0.95612	0.655000|0.655000	0.94253|0.94253	CTG|AGC	KALRN-005	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258843.4		+	ENST00000240874.3	Missense_Mutation	SNP	3 : 124117671 - 124117671 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	424	78
CYP2A13	1553	broad.mit.edu	37	19	41594992	41594992	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41594992C>A	ENST00000330436.3	+	2	339	c.339C>A	c.(337-339)ggC>ggA	p.G113G		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	113					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	TCTTCAAAGGCTATGGTGAGG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	42	43			NA	NA	19		NA											NA				41594992		2203	4298	6501	SO:0001819	synonymous_variant			U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838	1553	1553		Cytochrome P450s	2608	protein-coding gene	gene with protein product		608055	cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13		NA	7668294, 15128046	Standard	NM_000766	NM_000766	NA	Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.339C>A	19.37:g.41594992C>A		NA	Q53YR8|Q6R569|Q6R570|Q9H2X2	37	CCDS12571.1																																																																																			CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463505.1		+	ENST00000330436.3	Silent	SNP	19 : 41594992 - 41594992 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	409	62
RARS	5917	broad.mit.edu	37	5	167922434	167922434	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167922434G>A	ENST00000231572.3	+	6	748	c.694G>A	c.(694-696)Gtg>Atg	p.V232M	RARS_ENST00000538719.1_Missense_Mutation_p.V26M	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	232					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		AGGGTATGACGTGCTCAGGTA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	162	165			NA	NA	5		NA											NA				167922434		2203	4300	6503	SO:0001583	missense			BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	5917	5917	6.1.1.19	Aminoacyl tRNA synthetases / Class I	9870	protein-coding gene	gene with protein product	arginine tRNA ligase 1, cytoplasmic	107820			NA	7590355	Standard	NM_002887	NM_002887	NA	Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.694G>A	5.37:g.167922434G>A	ENSP00000231572:p.Val232Met	NA	B2RBS9|Q53GY4|Q9BWA1	37	CCDS4367.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573133	0.86542	.	.	ENSG00000113643	ENST00000231572;ENST00000538719	T;T	0.76709	-1.04;-0.81	5.03	5.03	0.67393	Arginyl-tRNA synthetase, class Ia, core (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.91905	0.7437	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94383	0.7606	10	0.87932	D	0	-14.2961	18.4023	0.90520	0.0:0.0:1.0:0.0	.	232	P54136	SYRC_HUMAN	M	232;26	ENSP00000231572:V232M;ENSP00000439108:V26M	ENSP00000231572:V232M	V	+	1	0	RARS	167855012	1.000000	0.71417	0.905000	0.35620	0.754000	0.42855	9.414000	0.97362	2.339000	0.79563	0.655000	0.94253	GTG	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252794.2		+	ENST00000231572.3	Missense_Mutation	SNP	5 : 167922434 - 167922434 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	721	148
LRFN5	145581	broad.mit.edu	37	14	42356113	42356113	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:42356113C>T	ENST00000554171.1	+	5	2717	c.285C>T	c.(283-285)ttC>ttT	p.F95F	LRFN5_ENST00000554120.1_Silent_p.F95F|LRFN5_ENST00000298119.4_Silent_p.F95F			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	95						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTCATGCTTTCGCTGACCTAC	0.348		NA								HNSCC(30;0.082)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	57	57			NA	NA	14		NA											NA				42356113		2203	4300	6503	SO:0001819	synonymous_variant			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379	145581	145581		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	20360	protein-coding gene	gene with protein product	fibronectin type III, immunoglobulin and leucine rich repeat domains 8	612811	chromosome 14 open reading frame 146	C14orf146	NA	16828986	Standard	NM_152447	NM_152447	NA	Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000554171.1:c.285C>T	14.37:g.42356113C>T		NA	B3KU78|Q86XL2	37																																																																																				LRFN5-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000410001.1		+	ENST00000554171.1	Silent	SNP	14 : 42356113 - 42356113 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	45
NCKAP1	10787	broad.mit.edu	37	2	183800055	183800055	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183800055G>A	ENST00000361354.4	-	25	3116	c.2744C>T	c.(2743-2745)tCc>tTc	p.S915F	NCKAP1_ENST00000478449.1_5'UTR|NCKAP1_ENST00000360982.2_Missense_Mutation_p.S921F	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	NA					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGATCGGAAGGATAAAATTAC	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	120	121			NA	NA	2		NA											NA				183800055		2203	4297	6500	SO:0001583	missense			AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676	10787	10787			7666	protein-coding gene	gene with protein product		604891			NA	10673335, 12181570, 9344857	Standard	NM_205842	NM_013436	NA	Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.2744C>T	2.37:g.183800055G>A	ENSP00000355348:p.Ser915Phe	NA	O60329|Q53QN5|Q53S94|Q53Y35	37	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.047969	0.93740	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.34667	1.35;1.35	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.62146	0.2404	M	0.80183	2.485	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.67103	0.949;0.916	T	0.60052	-0.7338	10	0.32370	T	0.25	-7.4815	19.2877	0.94085	0.0:0.0:1.0:0.0	.	915;921	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	F	915;921	ENSP00000355348:S915F;ENSP00000354251:S921F	ENSP00000354251:S921F	S	-	2	0	NCKAP1	183508300	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.638000	0.89438	0.585000	0.79938	TCC	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255867.2		-	ENST00000361354.4	Missense_Mutation	SNP	2 : 183800055 - 183800055 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	351	76
KRT12	3859	broad.mit.edu	37	17	39022953	39022953	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39022953T>A	ENST00000251643.4	-	1	509	c.486A>T	c.(484-486)gaA>gaT	p.E162D		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	162	Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				TTCCTCGTGTTTCATACCATT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	126	126			NA	NA	17		NA											NA				39022953		2203	4300	6503	SO:0001583	missense				CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242	3859	3859		-, Intermediate filaments type I, keratins (acidic)	6414	protein-coding gene	gene with protein product	Meesmann corneal dystrophy	601687			NA	9171831, 16831889	Standard	NM_000223	NM_000223	NA	Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.486A>T	17.37:g.39022953T>A	ENSP00000251643:p.Glu162Asp	NA	B2R9E0	37	CCDS11378.1	.	.	.	.	.	.	.	.	.	.	T	15.77	2.931852	0.52866	.	.	ENSG00000187242	ENST00000251643	D	0.89746	-2.56	5.91	4.83	0.62350	Filament (1);	0.000000	0.52532	D	0.000069	D	0.82815	0.5119	L	0.38175	1.15	0.37705	D	0.924361	P	0.36974	0.576	B	0.37239	0.244	T	0.82236	-0.0557	10	0.45353	T	0.12	.	8.9766	0.35939	0.0:0.2028:0.0:0.7972	.	162	Q99456	K1C12_HUMAN	D	162	ENSP00000251643:E162D	ENSP00000251643:E162D	E	-	3	2	KRT12	36276479	0.024000	0.19004	0.764000	0.31436	0.882000	0.50991	0.610000	0.24253	1.054000	0.40438	-0.274000	0.10170	GAA	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257214.2		-	ENST00000251643.4	Missense_Mutation	SNP	17 : 39022953 - 39022953 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	872	165
USP4	7375	broad.mit.edu	37	3	49338072	49338072	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49338072A>G	ENST00000351842.4	-	10	1207	c.1199T>C	c.(1198-1200)aTt>aCt	p.I400T	USP4_ENST00000488520.1_5'UTR|USP4_ENST00000265560.4_Missense_Mutation_p.I447T	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	447					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		AGTATCCACAATCACAGAATC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	80	87			NA	NA	3		NA											NA				49338072		2203	4300	6503	SO:0001583	missense			U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316	7375	7375		Ubiquitin-specific peptidases	12627	protein-coding gene	gene with protein product		603486	ubiquitin specific protease 4 (proto-oncogene)	UNP	NA	12838346, 9464533	Standard	NM_199443	NM_199443	NA	Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000351842.4:c.1199T>C	3.37:g.49338072A>G	ENSP00000341028:p.Ile400Thr	NA	A8K6Y0|O43452|O43453|Q08AK8	37	CCDS2794.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.690655	0.88735	.	.	ENSG00000114316	ENST00000351842;ENST00000265560	T;T	0.38240	1.15;1.15	5.93	5.93	0.95920	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.69178	0.3082	M	0.92784	3.345	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.77496	-0.2566	10	0.87932	D	0	-19.8798	15.2045	0.73169	1.0:0.0:0.0:0.0	.	400;447;447	Q13107-2;Q13107;Q08AK7	.;UBP4_HUMAN;.	T	400;447	ENSP00000341028:I400T;ENSP00000265560:I447T	ENSP00000265560:I447T	I	-	2	0	USP4	49313076	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.283000	0.95860	2.261000	0.74972	0.459000	0.35465	ATT	USP4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346068.1		-	ENST00000351842.4	Missense_Mutation	SNP	3 : 49338072 - 49338072 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	311	63
SLCO5A1	81796	broad.mit.edu	37	8	70617395	70617395	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70617395A>C	ENST00000524945.1	-	5	2209	c.1493T>G	c.(1492-1494)cTt>cGt	p.L498R	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.L443R|SLCO5A1_ENST00000260126.4_Missense_Mutation_p.L498R	NM_001146008.1	NP_001139480.1	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	498						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TCTGGCACCAAGTTTCAATTT	0.398		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	8		NA											NA				70617395		2203	4300	6503	SO:0001583	missense			AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571	81796	81796		Solute carriers	19046	protein-coding gene	gene with protein product		613543	solute carrier family 21 (organic anion transporter), member 15	SLC21A15	NA	12507753	Standard	NM_030958	NM_030958	NA	Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000524945.1:c.1493T>G	8.37:g.70617395A>C	ENSP00000434422:p.Leu498Arg	NA	B2RPF7	37	CCDS55243.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.611302	0.87258	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.48522	0.81;0.81;0.81	5.55	5.55	0.83447	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.74574	0.3734	M	0.90145	3.09	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;0.999	D;D;D;D	0.83275	0.996;0.993;0.98;0.975	T	0.79999	-0.1566	10	0.59425	D	0.04	.	15.9962	0.80250	1.0:0.0:0.0:0.0	.	443;443;498;498	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	R	498;498;443	ENSP00000260126:L498R;ENSP00000434422:L498R;ENSP00000431611:L443R	ENSP00000260126:L498R	L	-	2	0	SLCO5A1	70779949	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.253000	0.95501	2.234000	0.73211	0.533000	0.62120	CTT	SLCO5A1-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381991.1		-	ENST00000524945.1	Missense_Mutation	SNP	8 : 70617395 - 70617395 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	441	83
WDR63	126820	broad.mit.edu	37	1	85570251	85570251	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85570251C>T	ENST00000294664.6	+	14	1704	c.1524C>T	c.(1522-1524)tgC>tgT	p.C508C	WDR63_ENST00000370596.1_Silent_p.C469C|WDR63_ENST00000326813.8_Silent_p.C469C	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	508										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		GTGGAATATGCTGTCAACTTG	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	162	165			NA	NA	1		NA											NA				85570251		2203	4300	6503	SO:0001819	synonymous_variant				CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643	126820	126820		WD repeat domain containing	30711	protein-coding gene	gene with protein product					NA	21953912	Standard	NM_145172	XM_005270438	NA	Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.1524C>T	1.37:g.85570251C>T		NA	A8K988|Q96L72|Q96NU4	37	CCDS702.1																																																																																			WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000027565.2		+	ENST00000294664.6	Silent	SNP	1 : 85570251 - 85570251 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	251	50
OTOA	146183	broad.mit.edu	37	16	21739636	21739636	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21739636C>T	ENST00000388958.3	+	19	2092	c.2091C>T	c.(2089-2091)atC>atT	p.I697I	OTOA_ENST00000286149.4_Silent_p.I711I|OTOA_ENST00000388957.3_Silent_p.I373I|OTOA_ENST00000388956.4_Silent_p.I618I	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	711					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CAGCCATCATCGACAGGGGGA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	84	88			NA	NA	16		NA											NA				21739636		2198	4300	6498	SO:0001819	synonymous_variant			AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719	146183	146183			16378	protein-coding gene	gene with protein product	cancer/testis antigen 108	607038	deafness, autosomal recessive 22	DFNB22	NA	11972037, 19088187	Standard		NM_170664	NA	Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000388958.3:c.2091C>T	16.37:g.21739636C>T		NA	Q8NA86|Q96M76	37	CCDS10600.2																																																																																			OTOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207447.2		+	ENST00000388958.3	Silent	SNP	16 : 21739636 - 21739636 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	554	34
PIAS1	8554	broad.mit.edu	37	15	68479978	68479978	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:68479978G>A	ENST00000545237.1	+	15	2508	c.1767G>A	c.(1765-1767)caG>caA	p.Q589Q	PIAS1_ENST00000249636.6_Silent_p.Q587Q			O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	587	4 X 4 AA repeats of N-T-S-L.|Ser-rich.				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						CCTCCTCACAGATGTTTCTTG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	84	85			NA	NA	15		NA											NA				68479978		1959	4164	6123	SO:0001819	synonymous_variant			AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800	8554	8554		Zinc fingers, MIZ-type	2752	protein-coding gene	gene with protein product	zinc finger, MIZ-type containing 3	603566	DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1	DDXBP1	NA	9724754, 9177271	Standard		XM_005254735	NA	Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000545237.1:c.1767G>A	15.37:g.68479978G>A		NA	B2RB67|Q147X4|Q99751|Q9UN02	37																																																																																				PIAS1-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000419717.1		+	ENST00000545237.1	Silent	SNP	15 : 68479978 - 68479978 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	65
MLKL	197259	broad.mit.edu	37	16	74709292	74709292	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:74709292C>T	ENST00000308807.7	-	9	1664	c.1201G>A	c.(1201-1203)Gtc>Atc	p.V401I	MLKL_ENST00000306247.7_Silent_p.S182S	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	401	Protein kinase.						ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TCCCAGAGGACGATTCCAAAG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	100	101			NA	NA	16		NA											NA				74709292		2198	4300	6498	SO:0001583	missense			AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404	197259	197259			26617	protein-coding gene	gene with protein product		615153			NA	12477932	Standard	NM_152649	NM_152649	NA	Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000308807.7:c.1201G>A	16.37:g.74709292C>T	ENSP00000308351:p.Val401Ile	NA	A6NCE4|Q8N6V0	37	CCDS32487.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802705	0.50315	.	.	ENSG00000168404	ENST00000308807	D	0.93659	-3.26	4.96	4.0	0.46444	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.061471	0.64402	N	0.000005	D	0.88040	0.6330	.	.	.	0.33832	D	0.630322	P	0.45348	0.856	B	0.40165	0.321	D	0.88334	0.2970	9	0.23891	T	0.37	-20.2887	9.8095	0.40815	0.0:0.9015:0.0:0.0985	.	401	Q8NB16	MLKL_HUMAN	I	401	ENSP00000308351:V401I	ENSP00000308351:V401I	V	-	1	0	MLKL	73266793	0.995000	0.38212	0.999000	0.59377	0.946000	0.59487	1.105000	0.31086	1.398000	0.46701	0.498000	0.49722	GTC	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000436403.3		-	ENST00000308807.7	Missense_Mutation	SNP	16 : 74709292 - 74709292 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	522	127
ZNF662	389114	broad.mit.edu	37	3	42956571	42956571	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42956571G>A	ENST00000541208.1	+	5	1375	c.1006G>A	c.(1006-1008)Gac>Aac	p.D336N	ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.D362N|ZNF662_ENST00000440367.2_Missense_Mutation_p.D336N			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CGAATGTAAGGACTGTGGGAA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	84	86			NA	NA	3		NA											NA				42956571		2203	4300	6503	SO:0001583	missense			AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983	389114	389114		Zinc fingers, C2H2-type, -	31930	protein-coding gene	gene with protein product					NA		Standard	NM_207404	NM_207404	NA	Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.1006G>A	3.37:g.42956571G>A	ENSP00000446208:p.Asp336Asn	NA	Q6ZNF8|Q6ZQW8	37	CCDS2708.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673663	0.47781	.	.	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208	T;T;T	0.07327	3.2;3.2;3.2	2.92	2.92	0.33932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07413	0.0187	N	0.25485	0.75	0.23162	N	0.998194	B;B	0.33919	0.378;0.432	B;B	0.33392	0.101;0.163	T	0.28808	-1.0032	9	0.87932	D	0	.	11.6396	0.51224	0.0:0.0:1.0:0.0	.	362;336	F8W7S8;Q6ZS27	.;ZN662_HUMAN	N	336;362;336	ENSP00000405047:D336N;ENSP00000329264:D362N;ENSP00000446208:D336N	ENSP00000329264:D362N	D	+	1	0	ZNF662	42931575	0.003000	0.15002	0.985000	0.45067	0.969000	0.65631	0.686000	0.25392	1.665000	0.50811	0.555000	0.69702	GAC	ZNF662-201	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256646.4		+	ENST00000541208.1	Missense_Mutation	SNP	3 : 42956571 - 42956571 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	287	68
SASH1	23328	broad.mit.edu	37	6	148808758	148808758	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:148808758A>G	ENST00000367467.3	+	8	1111	c.636A>G	c.(634-636)gaA>gaG	p.E212E		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	212							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		AGCTCAAGGAATACGAGGCCC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	103	101			NA	NA	6		NA											NA				148808758		2203	4300	6503	SO:0001819	synonymous_variant			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961	23328	23328		SAM and SH3 domain containing, Sterile alpha motif (SAM) domain containing	19182	protein-coding gene	gene with protein product		607955			NA	9872452, 12771949	Standard	NM_015278	NM_015278	NA	Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.636A>G	6.37:g.148808758A>G		NA	Q5TGN5|Q8TAI0|Q9H7R7	37	CCDS5212.1																																																																																			SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042619.1		+	ENST00000367467.3	Silent	SNP	6 : 148808758 - 148808758 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	757	126
CBLB	868	broad.mit.edu	37	3	105572504	105572504	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:105572504C>T	ENST00000264122.4	-	3	494	c.173G>A	c.(172-174)aGa>aAa	p.R58K	CBLB_ENST00000403724.1_Missense_Mutation_p.R58K|CBLB_ENST00000545639.1_Missense_Mutation_p.R80K|CBLB_ENST00000405772.1_Missense_Mutation_p.R58K|CBLB_ENST00000394027.3_Missense_Mutation_p.R80K	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	58	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TTGGCACAGTCTTACCTAAAA	0.274		NA	Mis S		AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(93;588 1337 9788 29341 43499)		Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	0													44	42	43			NA	NA	3		NA											NA				105572504		2201	4297	6498	SO:0001583	missense			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423	868	868		RING-type (C3HC4) zinc fingers	1542	protein-coding gene	gene with protein product		604491	Cas-Br-M (murine) ectropic retroviral transforming sequence b, Cas-Br-M (murine) ecotropic retroviral transforming sequence b		NA	7784085	Standard	NM_170662	XM_005247853	NA	Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.173G>A	3.37:g.105572504C>T	ENSP00000264122:p.Arg58Lys	NA	B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	37	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.432187	0.43122	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772;ENST00000545639;ENST00000438603;ENST00000447441;ENST00000443752	T;T;T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	5.83	5.83	0.93111	Adaptor protein Cbl, N-terminal helical (3);Adaptor protein Cbl, PTB domain (1);	0.000000	0.85682	D	0.000000	T	0.74504	0.3725	N	0.04355	-0.22	0.80722	D	1	P;P;B	0.49696	0.927;0.911;0.044	D;D;B	0.67725	0.953;0.921;0.161	T	0.81371	-0.0963	10	0.87932	D	0	-20.2561	20.126	0.97982	0.0:1.0:0.0:0.0	.	80;58;58	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	K	58;80;58;58;80;80;58;58	ENSP00000264122:R58K;ENSP00000377595:R80K;ENSP00000384816:R58K;ENSP00000384938:R58K;ENSP00000446116:R80K;ENSP00000409750:R80K;ENSP00000400949:R58K;ENSP00000393906:R58K	ENSP00000264122:R58K	R	-	2	0	CBLB	107055194	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.272000	0.78516	2.749000	0.94314	0.655000	0.94253	AGA	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319417.2		-	ENST00000264122.4	Missense_Mutation	SNP	3 : 105572504 - 105572504 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	225	46
FOXG1	2290	broad.mit.edu	37	14	29236593	29236593	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:29236593C>T	ENST00000313071.4	+	1	307	c.108C>T	c.(106-108)agC>agT	p.S36S	FOXG1_ENST00000382535.3_Silent_p.S36S	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	36	His-rich.				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue 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			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		ACCACGCGAGCCACGGccacc	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	39	38			NA	NA	14		NA											NA				29236593		2111	4165	6276	SO:0001819	synonymous_variant				CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165	2290	2290		Forkhead boxes	3811	protein-coding gene	gene with protein product		164874	forkhead box G1B, forkhead box G1C, forkhead box G1A	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A	NA	7959731, 17260156	Standard		NM_005249	NA	Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.108C>T	14.37:g.29236593C>T		NA	A6NFY2|P55315|Q14488|Q86XT7	37	CCDS9636.1																																																																																			FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276559.3		+	ENST00000313071.4	Silent	SNP	14 : 29236593 - 29236593 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	83	20
PLA2G4D	283748	broad.mit.edu	37	15	42373813	42373813	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42373813C>T	ENST00000290472.3	-	11	916		c.e11-1			NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	NA					phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CTCCTCAGGGCTGTGGCAATG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	56	55			NA	NA	15		NA											NA				42373813		2203	4299	6502	SO:0001630	splice_region_variant			AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	283748	283748	3.1.1.4		30038	protein-coding gene	gene with protein product		612864			NA	14709560	Standard	NM_178034	NM_178034	NA	Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.822-1G>A	15.37:g.42373813C>T		NA	Q8N176	37	CCDS32203.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271183	0.40194	.	.	ENSG00000159337	ENST00000290472	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5248	0.75894	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLA2G4D	40161105	1.000000	0.71417	0.945000	0.38365	0.007000	0.05969	4.928000	0.63447	2.267000	0.75376	0.650000	0.86243	.	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419317.1	Intron	-	ENST00000290472.3	Splice_Site	SNP	15 : 42373813 - 42373813 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	487	47
OSR1	130497	broad.mit.edu	37	2	19553022	19553022	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:19553022C>T	ENST00000272223.2	-	2	889	c.545G>A	c.(544-546)cGc>cAc	p.R182H	OSR1_ENST00000536433.1_Missense_Mutation_p.R182H	NM_145260.2	NP_660303.1	Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	182					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				GGTGAAGTGGCGGCCACAGAA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	116	118			NA	NA	2		NA											NA				19553022		2203	4300	6503	SO:0001583	missense			BC025712	CCDS1694.1	2p24.1	2013-10-17	2013-10-17	2004-11-26	ENSG00000143867	ENSG00000143867	130497	130497		Zinc fingers, C2H2-type	8111	protein-coding gene	gene with protein product		608891	odd-skipped (Drosophila) homolog, odd-skipped related 1 (Drosophila)	ODD	NA	2120051, 12119563	Standard	NM_145260	XM_006711942	NA	Approved		uc002rdc.3	Q8TAX0	OTTHUMG00000088793	ENST00000272223.2:c.545G>A	2.37:g.19553022C>T	ENSP00000272223:p.Arg182His	NA	B3KV97|D6W521	37	CCDS1694.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914406	0.92178	.	.	ENSG00000143867	ENST00000272223;ENST00000536433	T;T	0.03920	3.76;3.76	5.68	4.79	0.61399	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.19725	0.0474	M	0.75615	2.305	0.58432	D	0.999996	D	0.89917	1.0	D	0.79784	0.993	T	0.00051	-1.2195	9	.	.	.	-30.0324	13.7771	0.63059	0.0:0.9258:0.0:0.0742	.	182	Q8TAX0	OSR1_HUMAN	H	182	ENSP00000272223:R182H;ENSP00000441801:R182H	.	R	-	2	0	OSR1	19416503	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.058000	0.71126	2.685000	0.91497	0.650000	0.86243	CGC	OSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000201432.2		-	ENST00000272223.2	Missense_Mutation	SNP	2 : 19553022 - 19553022 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	789	70
ATP9B	374868	broad.mit.edu	37	18	77133958	77133958	+	Missense_Mutation	SNP	C	C	T	rs140981029		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77133958C>T	ENST00000426216.2	+	28	3148	c.3131C>T	c.(3130-3132)gCc>gTc	p.A1044V	ATP9B_ENST00000307671.7_Missense_Mutation_p.A1044V|ATP9B_ENST00000543761.1_Missense_Mutation_p.A365V	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	1044					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CACGTGGTGGCCATCTCCTTC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	155	118	130		3131	4.3	1	18	dbSNP_134	130	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ATP9B	NM_198531.3	64	0,3,6500	TT,TC,CC	NA	0.0233,0.0227,0.0231	benign	1044/1148	77133958	3,13003	2203	4300	6503	SO:0001583	missense			R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377	374868	374868		ATPases / P-type	13541	protein-coding gene	gene with protein product		614446	ATPase, Class II, type 9B		NA	9548971, 11015572	Standard	NM_198531	NM_198531	NA	Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.3131C>T	18.37:g.77133958C>T	ENSP00000398076:p.Ala1044Val	NA	O60872|Q08AD8|Q08AD9	37	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044220	0.93685	2.27E-4	2.33E-4	ENSG00000166377	ENST00000426216;ENST00000307671;ENST00000543761	D;D;D	0.88975	-2.45;-2.45;-2.45	5.19	4.29	0.51040	.	0.110918	0.64402	D	0.000011	D	0.94647	0.8274	M	0.90595	3.13	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.66497	0.928;0.944	D	0.95051	0.8187	10	0.72032	D	0.01	.	12.8963	0.58101	0.0:0.9185:0.0:0.0815	.	1044;1044	O43861;O43861-2	ATP9B_HUMAN;.	V	1044;1044;365	ENSP00000398076:A1044V;ENSP00000304500:A1044V;ENSP00000442015:A365V	ENSP00000304500:A1044V	A	+	2	0	ATP9B	75234946	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	5.732000	0.68563	1.116000	0.41820	0.655000	0.94253	GCC	ATP9B-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256402.3		+	ENST00000426216.2	Missense_Mutation	SNP	18 : 77133958 - 77133958 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	519	93
JAK1	3716	broad.mit.edu	37	1	65332855	65332855	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65332855G>A	ENST00000342505.4	-	7	932	c.684C>T	c.(682-684)tcC>tcT	p.S228S		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	228	FERM.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TCTGTCTGATGGACTTATTCA	0.363		NA	Mis		ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	0													88	81	83			NA	NA	1		NA											NA				65332855		1874	4112	5986	SO:0001819	synonymous_variant			M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	3716	3716	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B	NA	1848670, 7698020	Standard	NM_002227	NM_002227	NA	Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.684C>T	1.37:g.65332855G>A		NA	Q59GQ2|Q9UD26	37	CCDS41346.1																																																																																			JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025791.1		-	ENST00000342505.4	Silent	SNP	1 : 65332855 - 65332855 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	403	77
SLC12A6	9990	broad.mit.edu	37	15	34529730	34529730	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34529730G>A	ENST00000354181.3	-	22	3316	c.2824C>T	c.(2824-2826)Cgg>Tgg	p.R942W	SLC12A6_ENST00000451844.2_Missense_Mutation_p.R754W|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R927W|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R891W|SLC12A6_ENST00000397702.2_Missense_Mutation_p.R883W|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R883W|SLC12A6_ENST00000560611.1_Missense_Mutation_p.R942W|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R942W|SLC12A6_ENST00000558589.1_Missense_Mutation_p.R933W|SLC12A6_ENST00000560164.1_Missense_Mutation_p.R754W			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	942					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GTGAAGATCCGTATGCTGCAC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													283	217	240			NA	NA	15		NA											NA				34529730		2201	4298	6499	SO:0001583	missense			AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199	9990	9990		Solute carriers	10914	protein-coding gene	gene with protein product		604878	agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)	KCC3, ACCPN	NA	10187864, 10347194	Standard	NM_005135	NM_133647	NA	Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.2824C>T	15.37:g.34529730G>A	ENSP00000346112:p.Arg942Trp	NA	Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	37	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321633	0.81580	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66;-3.66	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.98153	0.9390	H	0.95470	3.675	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.991;0.998	D	0.99204	1.0874	10	0.87932	D	0	.	17.5108	0.87759	0.0:0.0:1.0:0.0	.	927;942;891;754	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	W	891;927;933;883;883;754	ENSP00000290209:R891W;ENSP00000380819:R927W;ENSP00000380814:R883W;ENSP00000387725:R883W;ENSP00000390199:R754W	ENSP00000290209:R891W	R	-	1	2	SLC12A6	32317022	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.040000	0.49799	2.662000	0.90505	0.563000	0.77884	CGG	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417991.1		-	ENST00000354181.3	Missense_Mutation	SNP	15 : 34529730 - 34529730 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	475	93
LRRC8C	84230	broad.mit.edu	37	1	90178779	90178779	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90178779C>A	ENST00000370454.4	+	3	905	c.650C>A	c.(649-651)cCt>cAt	p.P217H	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	217						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		AAGTCCATTCCTGAGAAGTTT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	61	59			NA	NA	1		NA											NA				90178779		2203	4300	6503	SO:0001583	missense				CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488	84230	84230			25075	protein-coding gene	gene with protein product	hypothetical protein AD158	612889			NA	11230166	Standard	NM_032270	NM_032270	NA	Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.650C>A	1.37:g.90178779C>A	ENSP00000359483:p.Pro217His	NA	B3KXS9|Q29RV6|Q9H075	37	CCDS725.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234785	0.58886	.	.	ENSG00000171488	ENST00000370454	T	0.24538	1.85	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.34687	0.0906	L	0.59436	1.845	0.80722	D	1	D	0.55800	0.973	P	0.54924	0.764	T	0.01256	-1.1404	10	0.46703	T	0.11	.	20.3501	0.98811	0.0:1.0:0.0:0.0	.	217	Q8TDW0	LRC8C_HUMAN	H	217	ENSP00000359483:P217H	ENSP00000359483:P217H	P	+	2	0	LRRC8C	89951367	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	6.086000	0.71352	2.807000	0.96579	0.650000	0.86243	CCT	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000028435.2		+	ENST00000370454.4	Missense_Mutation	SNP	1 : 90178779 - 90178779 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	338	39
ARFGEF2	10564	broad.mit.edu	37	20	47628603	47628603	+	Silent	SNP	C	C	T	rs142138231		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47628603C>T	ENST00000371917.4	+	28	3900	c.3900C>T	c.(3898-3900)taC>taT	p.Y1300Y		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1300					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GTGGCAAATACGTCTCTGAGA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(176;1738 1974 26285 33069 35354)							NA				0								C		1,4405	2.1+/-5.4	0,1,2202	111	104	107		3900	-5.1	0.9	20	dbSNP_134	107	0,8600		0,0,4300	no	coding-synonymous	ARFGEF2	NM_006420.2		0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077		1300/1786	47628603	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198	10564	10564		A-kinase anchor proteins	15853	protein-coding gene	gene with protein product	Brefeldin A-inhibited guanine nucleotide-exchange protein 2	605371			NA	10212200	Standard	NM_006420	NM_006420	NA	Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.3900C>T	20.37:g.47628603C>T		NA	Q5TFT9|Q9NTS1	37	CCDS13411.1																																																																																			ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079627.1		+	ENST00000371917.4	Silent	SNP	20 : 47628603 - 47628603 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	497	31
ACOX3	8310	broad.mit.edu	37	4	8396442	8396442	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8396442C>T	ENST00000356406.5	-	10	1161	c.1084G>A	c.(1084-1086)Gct>Act	p.A362T	ACOX3_ENST00000503233.1_Missense_Mutation_p.A362T|ACOX3_ENST00000413009.2_Missense_Mutation_p.A362T	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	362					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GCGTAGACAGCTGCCAGATAT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	62	64			NA	NA	4		NA											NA				8396442		2203	4300	6503	SO:0001583	missense			Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	8310	8310	1.3.3.6		121	protein-coding gene	gene with protein product		603402	acyl-Coenzyme A oxidase 3, pristanoyl		NA	9271077	Standard		NM_003501	NA	Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.1084G>A	4.37:g.8396442C>T	ENSP00000348775:p.Ala362Thr	NA	Q96AJ8	37	CCDS3401.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.772563	0.49680	.	.	ENSG00000087008	ENST00000413009;ENST00000356406;ENST00000503233	D;D;D	0.96104	-3.91;-3.91;-3.91	4.31	4.31	0.51392	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.95698	0.8601	L	0.45581	1.43	0.80722	D	1	D;D;D	0.60575	0.974;0.985;0.988	P;P;P	0.61722	0.677;0.828;0.893	D	0.93855	0.7148	10	0.20519	T	0.43	-22.3756	16.0751	0.80962	0.0:1.0:0.0:0.0	.	362;362;362	B2R856;O15254-2;O15254	.;.;ACOX3_HUMAN	T	362	ENSP00000413994:A362T;ENSP00000348775:A362T;ENSP00000421625:A362T	ENSP00000348775:A362T	A	-	1	0	ACOX3	8447342	1.000000	0.71417	0.235000	0.24058	0.058000	0.15608	6.375000	0.73137	2.395000	0.81488	0.650000	0.86243	GCT	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206997.4		-	ENST00000356406.5	Missense_Mutation	SNP	4 : 8396442 - 8396442 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	159	36
CADM3	57863	broad.mit.edu	37	1	159163289	159163289	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159163289G>A	ENST00000368125.4	+	4	616	c.459G>A	c.(457-459)caG>caA	p.Q153Q	CADM3_ENST00000368124.4_Silent_p.Q187Q	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	153	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TAAACTGTCAGTCTTCTGGGA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	91	91			NA	NA	1		NA											NA				159163289		2203	4300	6503	SO:0001819	synonymous_variant			AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706	57863	57863		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	17601	protein-coding gene	gene with protein product	nectin-like 1	609743	immunoglobulin superfamily, member 4B	IGSF4B	NA	11536053	Standard	NM_021189	NM_021189	NA	Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.459G>A	1.37:g.159163289G>A		NA	Q8IZQ9|Q9NVJ5|Q9UJP1	37	CCDS44251.1																																																																																			CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090330.1		+	ENST00000368125.4	Silent	SNP	1 : 159163289 - 159163289 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	438	113
KIF1A	547	broad.mit.edu	37	2	241709069	241709069	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241709069G>A	ENST00000320389.7	-	15	1527	c.1369C>T	c.(1369-1371)Cgg>Tgg	p.R457W	KIF1A_ENST00000498729.2_Missense_Mutation_p.R466W	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	457					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GCTTCTGTCCGCCGCAGCTTC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	81	81			NA	NA	2		NA											NA				241709069		2115	4250	6365	SO:0001583	missense			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294	547	547		Kinesins, Pleckstrin homology (PH) domain containing	888	protein-coding gene	gene with protein product		601255	axonal transport of synaptic vesicles, chromosome 2 open reading frame 20, spastic paraplegia 30 (autosomal recessive)	ATSV, C2orf20, SPG30	NA	7539720, 10323250, 22258533	Standard	NM_138483	NM_001244008	NA	Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.1369C>T	2.37:g.241709069G>A	ENSP00000322791:p.Arg457Trp	NA	O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	37	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.851725	0.71719	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.73789	-0.63;-0.71;-0.78	4.39	-0.253	0.12996	.	0.200297	0.36066	U	0.002811	D	0.83225	0.5208	M	0.76170	2.325	0.53688	D	0.999971	D;D;D	0.89917	0.998;1.0;0.987	D;D;P	0.75484	0.963;0.986;0.76	D	0.84476	0.0602	10	0.87932	D	0	.	13.2152	0.59856	0.0:0.0:0.3248:0.6752	.	466;466;457	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	W	457;466;466;466	ENSP00000322791:R457W;ENSP00000438388:R466W;ENSP00000384231:R466W	ENSP00000322791:R457W	R	-	1	2	KIF1A	241357742	0.394000	0.25246	0.995000	0.50966	0.977000	0.68977	0.811000	0.27198	0.295000	0.22570	0.585000	0.79938	CGG	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324536.3		-	ENST00000320389.7	Missense_Mutation	SNP	2 : 241709069 - 241709069 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	192	34
ZNF814	730051	broad.mit.edu	37	19	58384364	58384364	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58384364C>T	ENST00000435989.2	-	3	2628	c.2394G>A	c.(2392-2394)aaG>aaA	p.K798K	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	798					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ACTCATAAGGCTTTTCTCCAG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	70	74			NA	NA	19		NA											NA				58384364		692	1591	2283	SO:0001819	synonymous_variant				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514	730051	730051		Zinc fingers, C2H2-type, -	33258	protein-coding gene	gene with protein product					NA		Standard	XM_001725708	NM_001144989	NA	Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.2394G>A	19.37:g.58384364C>T		NA	A6NF35	37	CCDS46212.1																																																																																			ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466976.1		-	ENST00000435989.2	Silent	SNP	19 : 58384364 - 58384364 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	248	7
PCDHA8	56140	broad.mit.edu	37	5	140222350	140222350	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140222350G>A	ENST00000531613.1	+	1	1444	c.1444G>A	c.(1444-1446)Gcg>Acg	p.A482T	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A482T|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018911.2	NP_061734.1			protocadherin alpha 8	NA										NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGCGAGACGCGGACGCGCA	0.657		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				140222350		2195	4261	6456	SO:0001583	missense			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962	56140	56140		Cadherins / Protocadherins : Clustered	8674	other	complex locus constituent	KIAA0345-like 6	606314			NA	10380929	Standard	NM_018911	NM_018911	NA	Approved			Q9Y5H6		ENST00000531613.1:c.1444G>A	5.37:g.140222350G>A	ENSP00000434655:p.Ala482Thr	NA		37	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	9.302	1.053320	0.19907	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.61859	0.07;0.07	3.72	2.74	0.32292	Cadherin (4);Cadherin-like (1);	0.226336	0.21629	U	0.071513	T	0.49167	0.1541	L	0.48935	1.535	0.09310	N	1	B;B	0.33171	0.187;0.4	B;B	0.36719	0.231;0.226	T	0.49457	-0.8938	10	0.62326	D	0.03	.	8.1567	0.31173	0.0:0.279:0.5938:0.1271	.	482;482	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	T	482	ENSP00000434655:A482T;ENSP00000367363:A482T	ENSP00000367363:A482T	A	+	1	0	PCDHA8	140202534	0.000000	0.05858	0.911000	0.35937	0.055000	0.15305	-0.225000	0.09151	1.790000	0.52503	0.306000	0.20318	GCG	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372830.2		+	ENST00000531613.1	Missense_Mutation	SNP	5 : 140222350 - 140222350 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	826	127
MMP21	118856	broad.mit.edu	37	10	127459093	127459093	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127459093C>T	ENST00000368808.3	-	5	1046	c.1047G>A	c.(1045-1047)gaG>gaA	p.E349E		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	349	Hemopexin-like 1.		E -> G (in dbSNP:rs28381302).		proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TCACCATCACCTCTCCATATT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													187	168	175			NA	NA	10		NA											NA				127459093		2203	4300	6503	SO:0001819	synonymous_variant			AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485	118856	118856			14357	protein-coding gene	gene with protein product		608416	matrix metalloproteinase 21		NA	11255011	Standard		NM_147191	NA	Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.1047G>A	10.37:g.127459093C>T		NA	Q5VZP9|Q8NG02	37	CCDS7647.1																																																																																			MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050928.1		-	ENST00000368808.3	Silent	SNP	10 : 127459093 - 127459093 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	548	95
COL5A2	1290	broad.mit.edu	37	2	189929383	189929383	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189929383T>G	ENST00000374866.3	-	25	1892		c.e25-2			NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	NA					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTGAGCACCCTGTACCGAGGC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	50	49			NA	NA	2		NA											NA				189929383		2203	4300	6503	SO:0001630	splice_region_variant			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262	1290	1290		Collagens	2210	protein-coding gene	gene with protein product	AB collagen	120190			NA	1572660	Standard	NM_000393	NM_000393	NA	Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1618-2A>C	2.37:g.189929383T>G		NA	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	37	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.663826	0.88251	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0612	0.80839	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL5A2	189637628	1.000000	0.71417	0.996000	0.52242	0.967000	0.64934	7.438000	0.80431	2.250000	0.74265	0.477000	0.44152	.	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313523.1	Intron	-	ENST00000374866.3	Splice_Site	SNP	2 : 189929383 - 189929383 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	410	56
CHPF2	54480	broad.mit.edu	37	7	150931242	150931242	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150931242C>T	ENST00000495645.1	+	2	397	c.121C>T	c.(121-123)Cga>Tga	p.R41*	CHPF2_ENST00000035307.2_Nonsense_Mutation_p.R49*	NM_001284295.1	NP_001271224.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	49						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TGTAGGGGAGCGAGGAGGGCC	0.592		NA											C	1	5e-04	NA	NA	2184	NA	0.9999	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.889	EXOME	NA	NA	5e-04	SNP								NA				0													74	77	76			NA	NA	7		NA											NA				150931242		2203	4300	6503	SO:0001587	stop_gained			AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	54480	54480	2.4.1.226	Beta 3-glycosyltransferases, Beta 4-glycosyltransferases	29270	protein-coding gene	gene with protein product		608037			NA	10718198, 12145278, 18316376	Standard	NM_019015	NM_019015	NA	Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000495645.1:c.121C>T	7.37:g.150931242C>T	ENSP00000418914:p.Arg41*	NA	B2DBD8|Q6P2I4|Q6UXD2	37		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	32	5.173336	0.94807	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	.	.	.	5.25	4.36	0.52297	.	0.719501	0.13914	N	0.354060	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-0.3935	12.9403	0.58340	0.0:0.837:0.163:0.0	.	.	.	.	X	41;49;49	.	ENSP00000035307:R49X	R	+	1	2	CHPF2	150562175	0.758000	0.28405	0.936000	0.37596	0.359000	0.29487	3.251000	0.51453	1.200000	0.43188	0.462000	0.41574	CGA	CHPF2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000348842.1		+	ENST00000495645.1	Nonsense_Mutation	SNP	7 : 150931242 - 150931242 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	483	34
TEAD2	8463	broad.mit.edu	37	19	49850619	49850619	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49850619T>C	ENST00000377214.4	-	8	1108	c.746A>G	c.(745-747)tAc>tGc	p.Y249C	TEAD2_ENST00000593945.1_Splice_Site_p.Y250C|TEAD2_ENST00000598810.1_Splice_Site_p.Y250C|TEAD2_ENST00000311227.2_Splice_Site_p.Y246C|TEAD2_ENST00000601519.1_Splice_Site_p.Y249C|TEAD2_ENST00000598397.1_5'UTR|TEAD2_ENST00000539846.1_Splice_Site_p.Y118C			Q15562	TEAD2_HUMAN	TEA domain family member 2	246	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GTGCCTCTGGTACTGAGGAGG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	78	75			NA	NA	19		NA											NA				49850619		2203	4300	6503	SO:0001630	splice_region_variant			X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22					8463	8463			11715	protein-coding gene	gene with protein product		601729			NA	9889009, 8702974	Standard	NM_003598	NM_003598	NA	Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000377214.4:c.745-1A>G	19.37:g.49850619T>C		NA	Q96IG3	37	CCDS58671.1	.	.	.	.	.	.	.	.	.	.	T	17.17	3.321648	0.60634	.	.	ENSG00000074219	ENST00000311227;ENST00000377214;ENST00000539846	T;T;T	0.37058	1.22;1.22;1.22	5.03	2.72	0.32119	.	0.354519	0.23528	N	0.047206	T	0.46054	0.1373	L	0.56396	1.775	0.39856	D	0.97331	D;B;D	0.69078	0.997;0.047;0.971	P;B;P	0.57776	0.827;0.117;0.813	T	0.46428	-0.9192	10	0.62326	D	0.03	-12.8121	8.2952	0.31982	0.3265:0.0:0.0:0.6735	.	118;246;249	B4DTJ6;Q15562;Q8NA25	.;TEAD2_HUMAN;.	C	246;249;118	ENSP00000310701:Y246C;ENSP00000366419:Y249C;ENSP00000437928:Y118C	ENSP00000310701:Y246C	Y	-	2	0	TEAD2	54542431	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	1.937000	0.40193	0.843000	0.35070	0.533000	0.62120	TAC	TEAD2-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465466.1	Missense_Mutation	-	ENST00000377214.4	Splice_Site	SNP	19 : 49850619 - 49850619 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	651	118
ABCA9	10350	broad.mit.edu	37	17	66987055	66987055	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66987055G>A	ENST00000340001.4	-	29	3971	c.3760C>T	c.(3760-3762)Cct>Tct	p.P1254S	ABCA9_ENST00000453985.2_Missense_Mutation_p.P1216S|ABCA9_ENST00000370732.2_Missense_Mutation_p.P1254S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1254					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TCTCCTTCAGGCTCTTCTGGG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													173	147	156			NA	NA	17		NA											NA				66987055		2203	4300	6503	SO:0001583	missense			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258	10350	10350		ATP binding cassette transporters / subfamily A	39	protein-coding gene	gene with protein product		612507			NA		Standard	NM_172386	XM_005256934	NA	Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.3760C>T	17.37:g.66987055G>A	ENSP00000342216:p.Pro1254Ser	NA	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	37	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139931	0.37728	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732	D;D	0.88124	-2.19;-2.34	5.4	5.4	0.78164	.	0.000000	0.47093	D	0.000250	D	0.91164	0.7217	M	0.64170	1.965	0.20074	N	0.999939	D;P	0.60160	0.987;0.529	P;B	0.58660	0.843;0.285	D	0.85458	0.1165	10	0.51188	T	0.08	.	17.7247	0.88362	0.0:0.0:1.0:0.0	.	1254;1254	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	S	1254;1199;1254	ENSP00000342216:P1254S;ENSP00000359767:P1254S	ENSP00000342216:P1254S	P	-	1	0	ABCA9	64498650	0.390000	0.25213	0.465000	0.27155	0.137000	0.21094	1.762000	0.38451	2.541000	0.85698	0.655000	0.94253	CCT	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277072.2		-	ENST00000340001.4	Missense_Mutation	SNP	17 : 66987055 - 66987055 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	370	62
PPFIA1	8500	broad.mit.edu	37	11	70208223	70208223	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70208223C>T	ENST00000253925.7	+	20	2820	c.2605C>T	c.(2605-2607)Cgg>Tgg	p.R869W	PPFIA1_ENST00000389547.3_Missense_Mutation_p.R869W|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	869					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	p.R869W(1)|p.R869R(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GGAGGAAGCCCGGAGACAAGG	0.478		NA											C	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	6e-04	SNP								NA				2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(1)|prostate(1)											124	119	121			NA	NA	11		NA											NA				70208223		2200	4294	6494	SO:0001583	missense			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626	8500	8500		Sterile alpha motif (SAM) domain containing	9245	protein-coding gene	gene with protein product	Liprin-alpha1	611054			NA	7796809, 9624153	Standard	NM_003626	NM_003626	NA	Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.2605C>T	11.37:g.70208223C>T	ENSP00000253925:p.Arg869Trp	NA	A6NLE3|Q13135|Q14567|Q8N4I2	37	CCDS31627.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	21.5	4.154992	0.78114	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950	T;T	0.20332	2.08;2.08	5.42	4.5	0.54988	.	0.073250	0.53938	D	0.000041	T	0.41766	0.1173	M	0.61703	1.905	0.50813	D	0.999897	D;D	0.89917	0.999;1.0	P;D	0.66351	0.878;0.943	T	0.34925	-0.9809	10	0.66056	D	0.02	.	14.1851	0.65601	0.2859:0.7141:0.0:0.0	.	869;869	Q13136;Q13136-2	LIPA1_HUMAN;.	W	869;869;366	ENSP00000253925:R869W;ENSP00000374198:R869W	ENSP00000253925:R869W	R	+	1	2	PPFIA1	69885871	0.981000	0.34729	1.000000	0.80357	0.987000	0.75469	1.834000	0.39171	1.281000	0.44480	0.555000	0.69702	CGG	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393905.1		+	ENST00000253925.7	Missense_Mutation	SNP	11 : 70208223 - 70208223 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	466	70
CNTNAP5	129684	broad.mit.edu	37	2	124783243	124783243	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:124783243C>T	ENST00000431078.1	+	1	380	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W	CNTNAP5_ENST00000423939.2_3'UTR	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	6					cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTCTTTACCACGGCTGACCAG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	127	125			NA	NA	2		NA											NA				124783243		2001	4165	6166	SO:0001583	missense			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052	129684	129684			18748	protein-coding gene	gene with protein product		610519			NA		Standard		NM_130773	NA	Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.16C>T	2.37:g.124783243C>T	ENSP00000399013:p.Arg6Trp	NA	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707496	0.48412	.	.	ENSG00000155052	ENST00000431078	D	0.88277	-2.36	5.29	-3.8	0.04307	.	1.453780	0.04752	N	0.424658	T	0.81517	0.4839	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.65158	-0.6236	10	0.87932	D	0	.	1.4909	0.02456	0.3287:0.3394:0.1712:0.1607	.	6	Q8WYK1	CNTP5_HUMAN	W	6	ENSP00000399013:R6W	ENSP00000399013:R6W	R	+	1	2	CNTNAP5	124499713	0.000000	0.05858	0.818000	0.32626	0.957000	0.61999	-1.557000	0.02166	-0.327000	0.08551	-0.268000	0.10319	CGG	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330864.3		+	ENST00000431078.1	Missense_Mutation	SNP	2 : 124783243 - 124783243 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	407	42
NLRP12	91662	broad.mit.edu	37	19	54313231	54313231	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54313231C>T	ENST00000324134.6	-	3	1850	c.1682G>A	c.(1681-1683)cGc>cAc	p.R561H	NLRP12_ENST00000391773.1_Missense_Mutation_p.R561H|NLRP12_ENST00000535162.1_Missense_Mutation_p.R561H|NLRP12_ENST00000354278.3_Missense_Mutation_p.R561H|NLRP12_ENST00000351894.4_Missense_Mutation_p.R561H|NLRP12_ENST00000391775.3_Missense_Mutation_p.R561H|NLRP12_ENST00000391772.1_Missense_Mutation_p.R561H|NLRP12_ENST00000345770.5_Missense_Mutation_p.R561H	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	561					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AAACAGGAAGCGGCTGGTGAG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	80	82			NA	NA	19		NA											NA				54313231		2203	4300	6503	SO:0001583	missense			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405	91662	91662		Nucleotide-binding domain and leucine rich repeat containing	22938	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12	609648	NACHT, leucine rich repeat and PYD containing 12	NALP12	NA	12563287, 12019269	Standard	NM_144687	NM_001277129	NA	Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1682G>A	19.37:g.54313231C>T	ENSP00000319377:p.Arg561His	NA	Q8NEU4|Q9BY26	37	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	8.046	0.765011	0.15914	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39	4.05	1.75	0.24633	.	0.421101	0.17587	N	0.168891	D	0.83727	0.5317	M	0.70903	2.155	0.80722	D	1	B;B;B;B	0.25904	0.066;0.066;0.066;0.137	B;B;B;B	0.20184	0.008;0.008;0.008;0.028	T	0.71137	-0.4680	10	0.10636	T	0.68	.	7.3897	0.26903	0.0:0.7809:0.0:0.2191	.	561;561;561;561	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	H	561	ENSP00000319377:R561H;ENSP00000438030:R561H;ENSP00000340473:R561H;ENSP00000346231:R561H;ENSP00000375655:R561H;ENSP00000375653:R561H;ENSP00000375652:R561H	ENSP00000319377:R561H	R	-	2	0	NLRP12	59005043	0.031000	0.19500	0.454000	0.27019	0.181000	0.23173	0.717000	0.25851	0.270000	0.21984	0.485000	0.47835	CGC	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000134340.1		-	ENST00000324134.6	Missense_Mutation	SNP	19 : 54313231 - 54313231 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	674	104
LRPPRC	10128	broad.mit.edu	37	2	44132886	44132886	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44132886G>A	ENST00000260665.7	-	31	3366	c.3309C>T	c.(3307-3309)aaC>aaT	p.N1103N		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1103					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGGCAGCATCGTTCAGTGTGA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	117	125			NA	NA	2		NA											NA				44132886		2203	4300	6503	SO:0001819	synonymous_variant			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095	10128	10128			15714	protein-coding gene	gene with protein product		607544	Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)	LSFC	NA	8012652, 8619474, 22045337	Standard	NM_133259	NM_133259	NA	Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.3309C>T	2.37:g.44132886G>A		NA	A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	37	CCDS33189.1																																																																																			LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327823.1		-	ENST00000260665.7	Silent	SNP	2 : 44132886 - 44132886 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	121
PCLO	27445	broad.mit.edu	37	7	82764246	82764246	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82764246C>A	ENST00000333891.9	-	3	2957	c.2620G>T	c.(2620-2622)Ggg>Tgg	p.G874W	PCLO_ENST00000423517.2_Missense_Mutation_p.G874W	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	NA	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTTGGTGACCCTTTTGGCATT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													197	198	198			NA	NA	7		NA											NA				82764246		1996	4167	6163	SO:0001583	missense			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472	27445	27445			13406	protein-coding gene	gene with protein product	aczonin	604918	piccolo (presynaptic cytomatrix protein)		NA	8900486, 9628581	Standard	NM_014510	NM_014510	NA	Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2620G>T	7.37:g.82764246C>A	ENSP00000334319:p.Gly874Trp	NA	A4D1A7|A6NNX9|O43373|O60305|Q08E72|Q9BVC8|Q9UIV2|Q9Y6U9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	9.804	1.181205	0.21787	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.18016	2.24;2.25	6.07	5.17	0.71159	.	.	.	.	.	T	0.36386	0.0965	M	0.63428	1.95	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.66847	0.947;0.947	T	0.12400	-1.0549	9	0.87932	D	0	.	11.6472	0.51267	0.125:0.8098:0.0:0.0653	.	874;874	Q9Y6V0-5;Q9Y6V0-6	.;.	W	820;874;874	ENSP00000334319:G874W;ENSP00000388393:G874W	ENSP00000334319:G874W	G	-	1	0	PCLO	82602182	0.676000	0.27567	0.997000	0.53966	0.986000	0.74619	1.218000	0.32467	1.526000	0.49068	0.655000	0.94253	GGG	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337368.5		-	ENST00000333891.9	Missense_Mutation	SNP	7 : 82764246 - 82764246 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1469	268
NEB	4703	broad.mit.edu	37	2	152346952	152346952	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152346952G>A	ENST00000603639.1	-	178	25230	c.25231C>T	c.(25231-25233)Cat>Tat	p.H8411Y	RIF1_ENST00000457745.1_Intron|NEB_ENST00000409198.1_Missense_Mutation_p.H6555Y|NEB_ENST00000172853.10_Missense_Mutation_p.H6555Y|NEB_ENST00000397345.3_Missense_Mutation_p.H8411Y|NEB_ENST00000509223.2_Missense_Mutation_p.H324Y|NEB_ENST00000397336.2_Missense_Mutation_p.H386Y|NEB_ENST00000604864.1_Missense_Mutation_p.H8411Y|NEB_ENST00000427231.2_Missense_Mutation_p.H8411Y			P20929	NEBU_HUMAN	nebulin	6555					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCTTCTGAATGCTCAGACTTC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	73	72			NA	NA	2		NA											NA				152346952		2043	4202	6245	SO:0001583	missense			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091	4703	4703			7720	protein-coding gene	gene with protein product	nemaline myopathy type 2	161650		NEM2	NA	10051637, 9359044	Standard	NM_004543	NM_001164507	NA	Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000603639.1:c.25231C>T	2.37:g.152346952G>A	ENSP00000473894:p.His8411Tyr	NA	Q15346|Q53QQ2|Q53TG8	37	CCDS54407.1	.	.	.	.	.	.	.	.	.	.	G	5.724	0.318107	0.10845	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000397336;ENST00000509223	T;T;T;T;T;T;T	0.06768	3.4;3.45;3.45;3.26;3.4;4.01;4.19	5.4	5.4	0.78164	.	0.299172	0.36338	N	0.002656	T	0.10078	0.0247	L	0.34521	1.04	0.32086	N	0.592536	P;P;P;D;B;B	0.56521	0.608;0.586;0.459;0.976;0.09;0.002	B;B;B;P;B;B	0.45232	0.099;0.332;0.162;0.474;0.023;0.015	T	0.09618	-1.0666	10	0.20519	T	0.43	.	18.7735	0.91901	0.0:0.0:1.0:0.0	.	324;386;324;6555;2893;8411	B7Z6B9;B7Z6P9;B7Z6N8;P20929;Q14215;F8WCL5	.;.;.;NEBU_HUMAN;.;.	Y	6555;8411;8411;2511;2893;6555;386;324	ENSP00000386259:H6555Y;ENSP00000380505:H8411Y;ENSP00000416578:H8411Y;ENSP00000410961:H2893Y;ENSP00000172853:H6555Y;ENSP00000380497:H386Y;ENSP00000427083:H324Y	ENSP00000172853:H6555Y	H	-	1	0	NEB	152055198	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	3.396000	0.52565	2.526000	0.85167	0.462000	0.41574	CAT	NEB-017	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000469059.2		-	ENST00000603639.1	Missense_Mutation	SNP	2 : 152346952 - 152346952 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	90	17
GLS	2744	broad.mit.edu	37	2	191797507	191797507	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191797507G>A	ENST00000471443.1	+	0	200				GLS_ENST00000320717.3_Intron|GLS_ENST00000338435.4_Nonsense_Mutation_p.W572*|GLS_ENST00000409626.1_Nonsense_Mutation_p.W143*|GLS_ENST00000409428.1_Intron|GLS_ENST00000409215.1_Nonsense_Mutation_p.W77*			O94925	GLSK_HUMAN	glutaminase	NA					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGACAGTATGGAAAAAAGTGT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	41	41			NA	NA	2		NA											NA				191797507		876	1991	2867	SO:0001624	3_prime_UTR_variant			AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	2744	2744	3.5.1.2	Ankyrin repeat domain containing	4331	protein-coding gene	gene with protein product		138280			NA	10048485	Standard		NM_014905	NA	Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000471443.1:c.*197G>A	2.37:g.191797507G>A		NA	Q9UL05|Q9UL06|Q9UL07|Q9UN40	37		.	.	.	.	.	.	.	.	.	.	G	39	7.516827	0.98332	.	.	ENSG00000115419	ENST00000338435;ENST00000409626;ENST00000409215	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	19.5377	0.95260	0.0:0.0:1.0:0.0	.	.	.	.	X	572;143;77	.	ENSP00000340689:W572X	W	+	3	0	GLS	191505752	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.357000	0.97099	2.601000	0.87937	0.655000	0.94253	TGG	GLS-014	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000335610.1		+	ENST00000471443.1	3'UTR	SNP	2 : 191797507 - 191797507 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	100	31
WDR90	197335	broad.mit.edu	37	16	701862	701862	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:701862G>A	ENST00000549091.1	+	9	968	c.876G>A	c.(874-876)ccG>ccA	p.P292P	WDR90_ENST00000293879.4_Silent_p.P292P	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	292										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGCCCTTCCCGGAGGTCAGCC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	28	26			NA	NA	16		NA											NA				701862		2097	4227	6324	SO:0001819	synonymous_variant			AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996	197335	197335		WD repeat domain containing	26960	protein-coding gene	gene with protein product			chromosome 16 open reading frame 17, chromosome 16 open reading frame 15, chromosome 16 open reading frame 16, chromosome 16 open reading frame 19, chromosome 16 open reading frame 18	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18	NA	11572484, 11157797	Standard	NM_145294	XM_005255160	NA	Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000549091.1:c.876G>A	16.37:g.701862G>A		NA	Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	37																																																																																				WDR90-001	NOVEL	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000109343.3		+	ENST00000549091.1	Silent	SNP	16 : 701862 - 701862 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	281	50
SH3RF3	344558	broad.mit.edu	37	2	110065683	110065683	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:110065683G>A	ENST00000309415.6	+	8	1886	c.1886G>A	c.(1885-1887)cGc>cAc	p.R629H		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	629							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						TCACCCCTGCGCACCCAGAAC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	2,4320		0,2,2159	21	29	27		1886	5.2	1	2		27	0,8500		0,0,4250	yes	missense	SH3RF3	NM_001099289.1	29	0,2,6409	AA,AG,GG	NA	0.0,0.0463,0.0156	probably-damaging	629/883	110065683	2,12820	2161	4250	6411	SO:0001583	missense			AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985	344558	344558		RING-type (C3HC4) zinc fingers	24699	protein-coding gene	gene with protein product			SH3 multiple domains 4	SH3MD4	NA	16374509	Standard	NM_001099289	XM_006712493	NA	Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.1886G>A	2.37:g.110065683G>A	ENSP00000309186:p.Arg629His	NA	A0SDZ7|A8MPR1|Q8NDU1	37		.	.	.	.	.	.	.	.	.	.	G	18.14	3.557727	0.65425	4.63E-4	0.0	ENSG00000172985	ENST00000418513;ENST00000309415	T;T	0.58940	0.3;2.08	5.15	5.15	0.70609	.	0.053596	0.85682	D	0.000000	T	0.67795	0.2931	.	.	.	0.54753	D	0.999989	D	0.69078	0.997	P	0.56088	0.791	T	0.64011	-0.6507	9	0.30078	T	0.28	-29.9474	18.8174	0.92081	0.0:0.0:1.0:0.0	.	629	Q8TEJ3	SH3R3_HUMAN	H	629	ENSP00000414997:R629H;ENSP00000309186:R629H	ENSP00000309186:R629H	R	+	2	0	SH3RF3	109432115	1.000000	0.71417	0.970000	0.41538	0.027000	0.11550	6.664000	0.74437	2.680000	0.91292	0.655000	0.94253	CGC	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding			+	ENST00000309415.6	Missense_Mutation	SNP	2 : 110065683 - 110065683 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	163	15
RTN1	6252	broad.mit.edu	37	14	60212623	60212623	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60212623C>T	ENST00000267484.5	-	2	1153	c.818G>A	c.(817-819)aGg>aAg	p.R273K		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	273					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CTGAGGAGCCCTGCGCTGTTC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	129	131			NA	NA	14		NA											NA				60212623		2203	4300	6503	SO:0001583	missense			L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970	6252	6252			10467	protein-coding gene	gene with protein product		600865	neuroendocrine-specific protein	NSP	NA	8275708	Standard		NM_206852	NA	Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.818G>A	14.37:g.60212623C>T	ENSP00000267484:p.Arg273Lys	NA	Q16800|Q16801|Q5BKZ4|Q9BQ59	37	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	C	6.120	0.390455	0.11581	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.22134	1.97	5.53	0.326	0.15908	.	1.177410	0.05768	N	0.606107	T	0.13157	0.0319	L	0.44542	1.39	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	T	0.28427	-1.0044	10	0.05525	T	0.97	.	1.0774	0.01635	0.2215:0.3573:0.1084:0.3128	.	273	Q16799	RTN1_HUMAN	K	273;199	ENSP00000267484:R273K	ENSP00000267484:R273K	R	-	2	0	RTN1	59282376	0.000000	0.05858	0.000000	0.03702	0.468000	0.32798	0.556000	0.23438	0.036000	0.15547	-0.259000	0.10710	AGG	RTN1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000072278.2		-	ENST00000267484.5	Missense_Mutation	SNP	14 : 60212623 - 60212623 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	728	131
MYO10	4651	broad.mit.edu	37	5	16689992	16689992	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16689992G>A	ENST00000513610.1	-	28	4291	c.3837C>T	c.(3835-3837)atC>atT	p.I1279I	MYO10_ENST00000515803.1_Silent_p.I618I|MYO10_ENST00000274203.9_Silent_p.I636I|MYO10_ENST00000505695.1_Silent_p.I618I|MYO10_ENST00000427430.2_Silent_p.I636I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1279	PH 1.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TAATGATGTCGATCCCATTCT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													186	180	182			NA	NA	5		NA											NA				16689992		2070	4210	6280	SO:0001819	synonymous_variant			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555	4651	4651		Myosins / Myosin superfamily : Class X, Pleckstrin homology (PH) domain containing	7593	protein-coding gene	gene with protein product		601481			NA	8884266	Standard	NM_012334	NM_012334	NA	Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3837C>T	5.37:g.16689992G>A		NA	A7E2D1|O94893|Q9NYM7|Q9P110|Q9P111|Q9UHF6	37	CCDS54834.1																																																																																			MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366167.1		-	ENST00000513610.1	Silent	SNP	5 : 16689992 - 16689992 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	33
CTPS2	56474	broad.mit.edu	37	X	16635291	16635291	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:16635291C>T	ENST00000443824.1	-	16	2271	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	CTPS2_ENST00000359276.4_Missense_Mutation_p.E510K|CTPS2_ENST00000380241.3_Missense_Mutation_p.E510K	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	510	Glutamine amidotransferase type-1.				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					TCAATGATTTCCATCCTGTCT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													200	181	187			NA	NA	X		NA											NA				16635291		2203	4300	6503	SO:0001583	missense			AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	56474	56474	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	CTP synthase II		NA	10899599	Standard	NM_019857	NM_001144002	NA	Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.1528G>A	X.37:g.16635291C>T	ENSP00000401264:p.Glu510Lys	NA	B3KWM2|Q9BRI0|Q9H809|Q9H8K9	37	CCDS14175.1	.	.	.	.	.	.	.	.	.	.	C	31	5.068700	0.93950	.	.	ENSG00000047230	ENST00000443824;ENST00000380241;ENST00000359276	D;D;D	0.90676	-2.71;-2.71;-2.71	5.91	5.91	0.95273	Glutamine amidotransferase type 1 (2);	0.000000	0.85682	D	0.000000	D	0.97108	0.9055	H	0.95917	3.74	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.98106	1.0417	10	0.87932	D	0	-28.8314	18.7625	0.91858	0.0:1.0:0.0:0.0	.	510	Q9NRF8	PYRG2_HUMAN	K	510	ENSP00000401264:E510K;ENSP00000369590:E510K;ENSP00000352222:E510K	ENSP00000352222:E510K	E	-	1	0	CTPS2	16545212	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.089000	0.76909	2.482000	0.83794	0.600000	0.82982	GAA	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055906.1		-	ENST00000443824.1	Missense_Mutation	SNP	X : 16635291 - 16635291 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	579	171
GIPC1	10755	broad.mit.edu	37	19	14593528	14593528	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14593528G>A	ENST00000393033.4	-	4	530	c.261C>T	c.(259-261)gcC>gcT	p.A87A	GIPC1_ENST00000586027.1_Silent_p.A87A|GIPC1_ENST00000591349.1_Intron|GIPC1_ENST00000393028.1_Intron|GIPC1_ENST00000345425.2_Silent_p.A87A|GIPC1_ENST00000393029.3_Intron	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	87					endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GGAAGGCCTCGGCGATCTTGC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(33;78 923 2910 41023 52850)							NA				0													49	39	42			NA	NA	19		NA											NA				14593528		2203	4300	6503	SO:0001819	synonymous_variant			AF089816	CCDS12310.1, CCDS12311.1	19p13.1	2009-09-22	2005-06-28	2005-06-28			10755	10755			1226	protein-coding gene	gene with protein product		605072	chromosome 19 open reading frame 3, regulator of G-protein signalling 19 interacting protein 1	C19orf3, RGS19IP1	NA	9770488, 9482110	Standard		NM_005716	NA	Approved	TIP-2, Hs.6454, GIPC, SEMCAP, GLUT1CBP, SYNECTIN, NIP	uc002myx.4	O14908		ENST00000393033.4:c.261C>T	19.37:g.14593528G>A		NA	A8MZG3|Q9BTC9	37	CCDS12310.1																																																																																			GIPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460239.2		-	ENST00000393033.4	Silent	SNP	19 : 14593528 - 14593528 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	172	36
ZNF425	155054	broad.mit.edu	37	7	148800888	148800888	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148800888C>A	ENST00000378061.2	-	4	2207	c.2075G>T	c.(2074-2076)aGg>aTg	p.R692M		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	692					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTGGAAGGGCCTCTCTCCACT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	87	89			NA	NA	7		NA											NA				148800888		2203	4300	6503	SO:0001583	missense			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947	155054	155054		Zinc fingers, C2H2-type, -	20690	protein-coding gene	gene with protein product					NA		Standard	XM_088140	NM_001001661	NA	Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.2075G>T	7.37:g.148800888C>A	ENSP00000367300:p.Arg692Met	NA	B3KPM1|Q08AG3	37	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071401	0.36566	.	.	ENSG00000204947	ENST00000378061	T	0.20332	2.08	3.44	-1.11	0.09840	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42268	0.1195	M	0.84773	2.715	0.24828	N	0.992545	D	0.67145	0.996	P	0.62649	0.905	T	0.26467	-1.0102	9	0.87932	D	0	.	7.8698	0.29558	0.0:0.5338:0.0:0.4662	.	692	Q6IV72	ZN425_HUMAN	M	692	ENSP00000367300:R692M	ENSP00000367300:R692M	R	-	2	0	ZNF425	148431821	0.000000	0.05858	0.065000	0.19835	0.982000	0.71751	-2.517000	0.00954	-0.170000	0.10816	0.655000	0.94253	AGG	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352726.1		-	ENST00000378061.2	Missense_Mutation	SNP	7 : 148800888 - 148800888 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	561	47
THADA	63892	broad.mit.edu	37	2	43768414	43768414	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43768414G>T	ENST00000405006.4	-	21	3499	c.3148C>A	c.(3148-3150)Ctg>Atg	p.L1050M	THADA_ENST00000405975.2_Missense_Mutation_p.L1050M|THADA_ENST00000415080.2_Missense_Mutation_p.L760M|THADA_ENST00000330266.7_Missense_Mutation_p.L760M	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1050							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CAACATACCAGCACCATCTGC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													245	244	244			NA	NA	2		NA											NA				43768414		2017	4188	6205	SO:0001583	missense			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970	63892	63892			19217	protein-coding gene	gene with protein product		611800			NA	12063398, 11214970	Standard	NM_022065	NM_022065	NA	Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.3148C>A	2.37:g.43768414G>T	ENSP00000385995:p.Leu1050Met	NA	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	37	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.11|19.11	3.763218|3.763218	0.69763|0.69763	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000407351|ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006	.|T;T;T;T	.|0.56275	.|0.47;0.47;0.47;0.47	5.67|5.67	5.67|5.67	0.87782|0.87782	.|Domain of unknown function DUF2428, death-receptor-like (1);Armadillo-type fold (1);	.|0.000000	.|0.64402	.|D	.|0.000004	.|T	.|0.72277	.|0.3440	M|M	0.62154|0.62154	1.92|1.92	0.51012|0.51012	D|D	0.999901|0.999901	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0	.|T	.|0.73544	.|-0.3949	.|10	.|0.87932	.|D	.|0	.|.	19.7706|19.7706	0.96363|0.96363	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|760;1051;760;1050	.|Q6YHU6-2;B6ZDQ0;C9JJB1;Q6YHU6	.|.;.;.;THADA_HUMAN	X|M	363|760;1050;1051;760;1050	.|ENSP00000331105:L760M;ENSP00000386088:L1050M;ENSP00000416048:L760M;ENSP00000385995:L1050M	.|ENSP00000331105:L760M	C|L	-|-	3|1	2|2	THADA|THADA	43621918|43621918	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.992000|3.992000	0.56980|0.56980	2.697000|2.697000	0.92050|0.92050	0.655000|0.655000	0.94253|0.94253	TGC|CTG	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326070.3		-	ENST00000405006.4	Missense_Mutation	SNP	2 : 43768414 - 43768414 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1335	177
SBNO1	55206	broad.mit.edu	37	12	123794273	123794273	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123794273A>G	ENST00000602750.1	-	26	3565	c.3423T>C	c.(3421-3423)taT>taC	p.Y1141Y	SBNO1_ENST00000420886.2_Silent_p.Y1142Y|SBNO1_ENST00000267176.4_Silent_p.Y1141Y|SBNO1_ENST00000602398.1_Silent_p.Y1142Y			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1142							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TTCCCATATCATATCTTCCAT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	130	131			NA	NA	12		NA											NA				123794273		2203	4300	6503	SO:0001819	synonymous_variant			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697	55206	55206			22973	protein-coding gene	gene with protein product		614274	sno, strawberry notch homolog 1 (Drosophila)		NA		Standard	NM_018183	NM_018183	NA	Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602750.1:c.3423T>C	12.37:g.123794273A>G		NA	Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	37	CCDS9246.1																																																																																			SBNO1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000467683.1		-	ENST00000602750.1	Silent	SNP	12 : 123794273 - 123794273 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	473	54
ZNF133	7692	broad.mit.edu	37	20	18297040	18297040	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18297040G>A	ENST00000377671.3	+	7	2101	c.1542G>A	c.(1540-1542)acG>acA	p.T514T	ZNF133_ENST00000316358.4_Silent_p.T515T|ZNF133_ENST00000401790.1_Silent_p.T515T|ZNF133_ENST00000535822.1_Silent_p.T420T|ZNF133_ENST00000396026.3_Silent_p.T518T|ZNF133_ENST00000538547.1_Silent_p.T420T|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000402618.2_Silent_p.T452T	NM_001083330.2|NM_003434.4	NP_001076799.1|NP_003425	P52736	ZN133_HUMAN	zinc finger protein 133	515						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						ACCAGAGGACGCACTCAGGGG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	71	71			NA	NA	20		NA											NA				18297040		2203	4300	6503	SO:0001819	synonymous_variant			AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846	7692	7692		Zinc fingers, C2H2-type, -	12917	protein-coding gene	gene with protein product		604075	zinc finger protein 150 (pHZ-66), zinc finger protein 133 (clone pHZ-13)	ZNF150	NA	7557990, 7649249	Standard	NM_003434	XM_005260819	NA	Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000377671.3:c.1542G>A	20.37:g.18297040G>A		NA	A8K5S4|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	37	CCDS13134.1																																																																																			ZNF133-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078158.2		+	ENST00000377671.3	Silent	SNP	20 : 18297040 - 18297040 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	456	51
SMARCA4	6597	broad.mit.edu	37	19	11107017	11107017	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11107017C>A	ENST00000429416.3	+	11	2003	c.1722C>A	c.(1720-1722)gcC>gcA	p.A574A	SMARCA4_ENST00000344626.4_Silent_p.A574A|SMARCA4_ENST00000444061.3_Silent_p.A574A|SMARCA4_ENST00000358026.2_Silent_p.A574A|SMARCA4_ENST00000413806.3_Silent_p.A574A|SMARCA4_ENST00000541122.2_Silent_p.A574A|SMARCA4_ENST00000590574.1_Silent_p.A574A|SMARCA4_ENST00000450717.3_Silent_p.A574A|SMARCA4_ENST00000589677.1_Silent_p.A574A	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	574					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(3)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ACAAGGCTGCCCAGGTCGCCa	0.592		NA	F, N, Mis		NSCLC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		19	19p13.2	6597	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4		E	3	Unknown(3)	lung(2)|prostate(1)											80	75	77			NA	NA	19		NA											NA				11107017		2203	4300	6503	SO:0001819	synonymous_variant			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616	6597	6597			11100	protein-coding gene	gene with protein product	SNF2-like 4, global transcription activator homologous sequence, sucrose nonfermenting-like 4, mitotic growth and transcription activator, BRM/SWI2-related gene 1, homeotic gene regulator, nuclear protein GRB1, brahma protein-like 1, ATP-dependent helicase SMARCA4	603254		SNF2L4	NA	8208605	Standard	NM_003072	NM_003072	NA	Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1722C>A	19.37:g.11107017C>A		NA	O95052|Q9HBD3	37	CCDS12253.1																																																																																			SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452638.2		+	ENST00000429416.3	Silent	SNP	19 : 11107017 - 11107017 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	637	121
TTN	7273	broad.mit.edu	37	2	179568946	179568946	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179568946G>A	ENST00000589042.1	-	106	30375	c.30151C>T	c.(30151-30153)Cga>Tga	p.R10051*	TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.R9734*|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.R8807*|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9734	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTCTGCTCGAACATCTGCA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													233	217	222			NA	NA	2		NA											NA				179568946		1907	4130	6037	SO:0001587	stop_gained			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.30151C>T	2.37:g.179568946G>A	ENSP00000467141:p.Arg10051*	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	G	60	43.287529	0.99986	.	.	ENSG00000155657	ENST00000342992	.	.	.	6.07	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.0665	0.64834	0.0:0.0:0.7462:0.2538	.	.	.	.	X	8807	.	ENSP00000343764:R8807X	R	-	1	2	TTN	179277191	1.000000	0.71417	0.974000	0.42286	0.984000	0.73092	5.542000	0.67218	2.885000	0.99019	0.655000	0.94253	CGA	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Nonsense_Mutation	SNP	2 : 179568946 - 179568946 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	758	208
LMBR1	64327	broad.mit.edu	37	7	156555863	156555863	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156555863C>T	ENST00000353442.5	-	7	794	c.558G>A	c.(556-558)tgG>tgA	p.W186*	LMBR1_ENST00000359422.4_Nonsense_Mutation_p.W34*|LMBR1_ENST00000354505.4_Nonsense_Mutation_p.W186*|LMBR1_ENST00000540390.1_Nonsense_Mutation_p.W165*	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	NA						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		GATAGAACTCCCAGAGATCta	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	26	25			NA	NA	7		NA											NA				156555863		2185	4269	6454	SO:0001587	stop_gained			AF107454	CCDS5945.1	7q36.3	2013-08-05	2013-08-05	2005-07-25	ENSG00000105983	ENSG00000105983	64327	64327			13243	protein-coding gene	gene with protein product		605522	chromosome 7 open reading frame 2, limb region 1 homolog (mouse)	C7orf2	NA	10329000, 11090342	Standard	NM_022458	NM_022458	NA	Approved	ACHP, FLJ11665, ZRS	uc003wmw.4	Q8WVP7	OTTHUMG00000151510	ENST00000353442.5:c.558G>A	7.37:g.156555863C>T	ENSP00000326604:p.Trp186*	NA	A4D242|Q8N3E3|Q96QZ5|Q9H5N0|Q9HAG9|Q9UDN5|Q9Y6U2	37	CCDS5945.1	.	.	.	.	.	.	.	.	.	.	C	38	6.944995	0.97952	.	.	ENSG00000105983	ENST00000353442;ENST00000359422;ENST00000415428;ENST00000354505;ENST00000540390;ENST00000347571	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0404	18.8532	0.92241	0.0:1.0:0.0:0.0	.	.	.	.	X	186;34;184;186;165;186	.	ENSP00000337803:W186X	W	-	3	0	LMBR1	156248624	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.266000	0.58871	2.547000	0.85894	0.655000	0.94253	TGG	LMBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347939.3		-	ENST00000353442.5	Nonsense_Mutation	SNP	7 : 156555863 - 156555863 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	178	20
LDOC1L	84247	broad.mit.edu	37	22	44893044	44893044	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44893044C>T	ENST00000341255.3	-	2	902	c.393G>A	c.(391-393)ccG>ccA	p.P131P		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	131										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		CGGCCTCACCCGGGAAGCGGG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	42	41			NA	NA	22		NA											NA				44893044		2203	4300	6503	SO:0001819	synonymous_variant			CR456439	CCDS33662.1	22q13.3	2006-09-06			ENSG00000188636	ENSG00000188636	84247	84247			13343	protein-coding gene	gene with protein product					NA	15716091, 16093683	Standard	NM_032287	NM_032287	NA	Approved	dJ1033E15.2, DKFZp761O17121, Mart6, Mar6	uc003beu.1	Q6ICC9	OTTHUMG00000150465	ENST00000341255.3:c.393G>A	22.37:g.44893044C>T		NA	Q6ZTR1	37	CCDS33662.1																																																																																			LDOC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318222.1		-	ENST00000341255.3	Silent	SNP	22 : 44893044 - 44893044 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	282	47
ADAMTS12	81792	broad.mit.edu	37	5	33615950	33615950	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33615950C>T	ENST00000504830.1	-	15	2706	c.2371G>A	c.(2371-2373)Gag>Aag	p.E791K	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E706K|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	791	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CACACAGACTCATTGGTGGGA	0.483		NA								HNSCC(64;0.19)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	126	131			NA	NA	5		NA											NA				33615950		2203	4300	6503	SO:0001583	missense			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388	81792	81792		ADAM metallopeptidases with thrombospondin type 1 motif	14605	protein-coding gene	gene with protein product		606184	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12		NA	11279086	Standard	NM_030955	NM_030955	NA	Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2371G>A	5.37:g.33615950C>T	ENSP00000422554:p.Glu791Lys	NA	A2RRN9|A5D6V6|Q6UWL3	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.472919	0.84640	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.56941	0.43;0.43	5.35	5.35	0.76521	ADAM-TS Spacer 1 (1);	0.300984	0.35151	N	0.003404	T	0.74366	0.3707	M	0.89840	3.065	0.80722	D	1	D;D	0.63880	0.986;0.993	P;D	0.64877	0.73;0.93	T	0.74166	-0.3753	10	0.09338	T	0.73	.	18.6763	0.91529	0.0:1.0:0.0:0.0	.	706;791	P58397-3;P58397	.;ATS12_HUMAN	K	791;706	ENSP00000422554:E791K;ENSP00000344847:E706K	ENSP00000344847:E706K	E	-	1	0	ADAMTS12	33651707	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	5.034000	0.64152	2.481000	0.83766	0.561000	0.74099	GAG	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367164.2		-	ENST00000504830.1	Missense_Mutation	SNP	5 : 33615950 - 33615950 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	677	104
KCTD9	54793	broad.mit.edu	37	8	25293013	25293013	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25293013C>A	ENST00000221200.4	-	9	899	c.679G>T	c.(679-681)Ggt>Tgt	p.G227C		NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN	potassium channel tetramerization domain containing 9	227						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		AGATCAGCACCACTGAAGTTC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	69	70			NA	NA	8		NA											NA				25293013		2203	4300	6503	SO:0001583	missense			BC021216	CCDS6048.1	8p21.1	2013-06-20	2013-06-20		ENSG00000104756	ENSG00000104756	54793	54793		BTB/POZ domain containing	22401	protein-coding gene	gene with protein product			potassium channel tetramerisation domain containing 9		NA	11483580	Standard	NM_017634	NM_017634	NA	Approved	FLJ20038, BTBD27	uc003xeo.3	Q7L273	OTTHUMG00000099428	ENST00000221200.4:c.679G>T	8.37:g.25293013C>A	ENSP00000221200:p.Gly227Cys	NA	Q6NUM8|Q9NXV4	37	CCDS6048.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885195	0.91814	.	.	ENSG00000104756	ENST00000221200	T	0.51817	0.69	5.54	5.54	0.83059	.	0.000000	0.85682	U	0.000000	T	0.77075	0.4077	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81739	-0.0795	10	0.87932	D	0	.	19.8472	0.96713	0.0:1.0:0.0:0.0	.	227	Q7L273	KCTD9_HUMAN	C	227	ENSP00000221200:G227C	ENSP00000221200:G227C	G	-	1	0	KCTD9	25348930	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.768000	0.95171	0.650000	0.86243	GGT	KCTD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216890.1		-	ENST00000221200.4	Missense_Mutation	SNP	8 : 25293013 - 25293013 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	286	19
SWAP70	23075	broad.mit.edu	37	11	9746232	9746232	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9746232G>A	ENST00000318950.6	+	4	545	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	SWAP70_ENST00000447399.2_Missense_Mutation_p.E90K	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	148						cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		GAAGCTTACAGAAGCTATGGG	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	61	61			NA	NA	11		NA											NA				9746232		2201	4294	6495	SO:0001583	missense			AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789	23075	23075		Pleckstrin homology (PH) domain containing, EF-hand domain containing	17070	protein-coding gene	gene with protein product		604762			NA	9734811, 10681448	Standard	NM_015055	XM_005252829	NA	Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.442G>A	11.37:g.9746232G>A	ENSP00000315630:p.Glu148Lys	NA	D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	37	CCDS31426.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702741	0.68501	.	.	ENSG00000133789	ENST00000447399;ENST00000318950	T;T	0.11277	2.79;2.79	5.51	5.51	0.81932	.	0.164685	0.64402	D	0.000018	T	0.18341	0.0440	L	0.54323	1.7	0.58432	D	0.999998	P;P;D	0.58268	0.956;0.546;0.982	P;B;P	0.47603	0.453;0.073;0.551	T	0.01124	-1.1444	10	0.28530	T	0.3	-16.6408	19.4051	0.94644	0.0:0.0:1.0:0.0	.	90;148;90	E7EMB1;Q9UH65;B3KUB9	.;SWP70_HUMAN;.	K	90;148	ENSP00000399056:E90K;ENSP00000315630:E148K	ENSP00000315630:E148K	E	+	1	0	SWAP70	9702808	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.823000	0.99369	2.586000	0.87340	0.467000	0.42956	GAA	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386766.2		+	ENST00000318950.6	Missense_Mutation	SNP	11 : 9746232 - 9746232 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	285	49
TBCD	6904	broad.mit.edu	37	17	80887372	80887372	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80887372C>T	ENST00000355528.4	+	32	3117	c.2987C>T	c.(2986-2988)tCg>tTg	p.S996L	TBCD_ENST00000539345.2_Missense_Mutation_p.S996L	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	996					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity				NA	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TTGACGGAGTCGACGGTGAGG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	40	38			NA	NA	17		NA											NA				80887372		2154	4255	6409	SO:0001583	missense			BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556	6904	6904			11581	protein-coding gene	gene with protein product		604649	tubulin-specific chaperone d		NA		Standard	NM_005993	NM_005993	NA	Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.2987C>T	17.37:g.80887372C>T	ENSP00000347719:p.Ser996Leu	NA	O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	37	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974366	0.74246	.	.	ENSG00000141556	ENST00000355528;ENST00000334614	T	0.37411	1.2	4.67	4.67	0.58626	Armadillo-type fold (1);Tubulin-specific chaperone D, C-terminal (1);	0.314127	0.31061	N	0.008326	T	0.59307	0.2184	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	0.997;0.998;1.0	P;P;P	0.61070	0.814;0.883;0.876	T	0.65569	-0.6136	9	.	.	.	.	15.0761	0.72077	0.0:1.0:0.0:0.0	.	747;996;996	F8WC00;Q9BTW9;Q9BTW9-4	.;TBCD_HUMAN;.	L	996;747	ENSP00000347719:S996L	.	S	+	2	0	TBCD	78480661	1.000000	0.71417	0.907000	0.35723	0.156000	0.22039	6.924000	0.75823	2.127000	0.65507	0.561000	0.74099	TCG	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000439415.1		+	ENST00000355528.4	Missense_Mutation	SNP	17 : 80887372 - 80887372 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	147	17
ZYX	7791	broad.mit.edu	37	7	143079460	143079460	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143079460G>T	ENST00000322764.5	+	3	673	c.328G>T	c.(328-330)Gag>Tag	p.E110*	ZYX_ENST00000392910.2_5'UTR|ZYX_ENST00000449423.2_Nonsense_Mutation_p.E54*|ZYX_ENST00000477373.1_Intron	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	110					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					TGCGCCTCTGGAGGAGGAGAT	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	20	20			NA	NA	7		NA											NA				143079460		2203	4300	6503	SO:0001587	stop_gained			X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840	7791	7791			13200	protein-coding gene	gene with protein product		602002			NA	8917469, 8940160	Standard	NM_003461	XM_005250052	NA	Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.328G>T	7.37:g.143079460G>T	ENSP00000324422:p.Glu110*	NA	A4D2G6|Q6I9S4	37	CCDS5883.1	.	.	.	.	.	.	.	.	.	.	G	39	7.639934	0.98406	.	.	ENSG00000159840	ENST00000322764;ENST00000449630;ENST00000457235;ENST00000354434;ENST00000449423	.	.	.	3.41	2.47	0.30058	.	1.454090	0.04456	N	0.373560	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	9.4854	0.38926	0.0:0.0:0.7876:0.2124	.	.	.	.	X	110;79;110;109;54	.	ENSP00000324422:E110X	E	+	1	0	ZYX	142789582	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	5.334000	0.65923	0.558000	0.29135	0.561000	0.74099	GAG	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000156296.2		+	ENST00000322764.5	Nonsense_Mutation	SNP	7 : 143079460 - 143079460 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	139	11
NCOA1	8648	broad.mit.edu	37	2	24952420	24952420	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24952420G>A	ENST00000405141.1	+	18	3648	c.2937G>A	c.(2935-2937)acG>acA	p.T979T	NCOA1_ENST00000288599.5_Silent_p.T979T|NCOA1_ENST00000538539.1_Silent_p.T979T|NCOA1_ENST00000395856.3_Silent_p.T979T|NCOA1_ENST00000348332.3_Silent_p.T979T|NCOA1_ENST00000407230.1_Silent_p.T828T|NCOA1_ENST00000406961.1_Silent_p.T979T			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	979	Interaction with CREBBP.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACAAGCAACGCCACCTTTGA	0.428		NA	T	PAX3	alveolar rhadomyosarcoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	0								G	,,	1,4405	2.1+/-5.4	0,1,2202	157	140	146		2937,2937,2937	3.8	1	2		146	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	NCOA1	NM_003743.4,NM_147223.2,NM_147233.2	,,	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	,,	979/1442,979/1400,979/1441	24952420	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676	8648	8648		Chromatin-modifying enzymes / K-acetyltransferases, Basic helix-loop-helix proteins	7668	protein-coding gene	gene with protein product		602691			NA	7481822, 9575154	Standard	NM_147223	XM_005264625	NA	Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000405141.1:c.2937G>A	2.37:g.24952420G>A		NA	O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	37	CCDS1713.1																																																																																			NCOA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000246853.2		+	ENST00000405141.1	Silent	SNP	2 : 24952420 - 24952420 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	892	240
IRAK4	51135	broad.mit.edu	37	12	44166052	44166052	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:44166052C>A	ENST00000448290.2	+	4	448	c.377C>A	c.(376-378)cCt>cAt	p.P126H	IRAK4_ENST00000440781.2_Missense_Mutation_p.P2H|IRAK4_ENST00000431837.1_Missense_Mutation_p.P2H|IRAK4_ENST00000551736.1_Missense_Mutation_p.P126H	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	126					innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity				NA	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		AAACAGATGCCTTTCTGTGAC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	99	103			NA	NA	12		NA											NA				44166052		2203	4300	6503	SO:0001583	missense			AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001	51135	51135			17967	protein-coding gene	gene with protein product		606883			NA	3772297, 10508479	Standard		NM_001114182	NA	Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		ENST00000448290.2:c.377C>A	12.37:g.44166052C>A	ENSP00000390651:p.Pro126His	NA	Q69FE1|Q8TDF7|Q9Y589	37	CCDS8744.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.591258	0.46214	.	.	ENSG00000198001	ENST00000440781;ENST00000431837;ENST00000448290;ENST00000551736;ENST00000356669	T;T;T;T	0.77620	-1.07;-1.07;-1.11;-1.11	5.32	4.29	0.51040	.	0.571871	0.19382	N	0.115633	T	0.76140	0.3946	L	0.60455	1.87	0.09310	N	1	P	0.35821	0.523	B	0.42882	0.401	T	0.67730	-0.5595	10	0.46703	T	0.11	-1.4818	8.1865	0.31341	0.0:0.8597:0.0:0.1403	.	126	Q9NWZ3	IRAK4_HUMAN	H	2;2;126;126;126	ENSP00000408734:P2H;ENSP00000390327:P2H;ENSP00000390651:P126H;ENSP00000446490:P126H	ENSP00000349096:P126H	P	+	2	0	IRAK4	42452319	0.010000	0.17322	0.002000	0.10522	0.009000	0.06853	1.834000	0.39171	1.128000	0.42052	0.655000	0.94253	CCT	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403947.1		+	ENST00000448290.2	Missense_Mutation	SNP	12 : 44166052 - 44166052 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	375	66
CAPN12	147968	broad.mit.edu	37	19	39233119	39233119	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39233119C>T	ENST00000328867.4	-	3	665	c.357G>A	c.(355-357)cgG>cgA	p.R119R	CAPN12_ENST00000601953.1_5'UTR	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	119	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GGCGCAGGAGCCGGGGATACA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	51	53			NA	NA	19		NA											NA				39233119		2203	4300	6503	SO:0001819	synonymous_variant			BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472	147968	147968		EF-hand domain containing	13249	protein-coding gene	gene with protein product		608839			NA		Standard		NM_144691	NA	Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.357G>A	19.37:g.39233119C>T		NA		37	CCDS12519.1																																																																																			CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462151.1		-	ENST00000328867.4	Silent	SNP	19 : 39233119 - 39233119 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	211	29
RPL10L	140801	broad.mit.edu	37	14	47120892	47120892	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:47120892C>T	ENST00000298283.3	-	1	136	c.48G>A	c.(46-48)ccG>ccA	p.P16P		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	16					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						ATTTTGGGTACGGCTTGTTCT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		3,4403	6.2+/-15.9	0,3,2200	90	95	93		48	-8.6	0	14		93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RPL10L	NM_080746.2		0,4,6499	TT,TC,CC	NA	0.0116,0.0681,0.0308		16/215	47120892	4,13002	2203	4300	6503	SO:0001819	synonymous_variant			AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496	140801	140801		L ribosomal proteins	17976	protein-coding gene	gene with protein product					NA	19123937	Standard		NM_080746	NA	Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.48G>A	14.37:g.47120892C>T		NA	Q8IUD1	37	CCDS32071.1																																																																																			RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349819.1		-	ENST00000298283.3	Silent	SNP	14 : 47120892 - 47120892 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	718	130
PDX1	3651	broad.mit.edu	37	13	28498408	28498408	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28498408C>T	ENST00000381033.4	+	2	541	c.422C>T	c.(421-423)gCg>gTg	p.A141V		NM_000209.3	NP_000200.1	P52945	PDX1_HUMAN	pancreatic and duodenal homeobox 1	141					detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity				NA	all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		GCCTACGCTGCGGAGCCGGAG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	20	20			NA	NA	13		NA											NA				28498408		2199	4298	6497	SO:0001583	missense			AF035260	CCDS9327.1	13q12.1	2012-03-09	2006-12-01	2006-12-01	ENSG00000139515	ENSG00000139515	3651	3651		Homeoboxes / ANTP class : HOXL subclass	6107	protein-coding gene	gene with protein product	somatostatin transcription factor 1	600733	insulin promoter factor 1, homeodomain transcription factor	IPF1	NA	7590740	Standard	NM_000209	NM_000209	NA	Approved	IDX-1, STF-1, PDX-1, MODY4	uc001urt.2	P52945	OTTHUMG00000016638	ENST00000381033.4:c.422C>T	13.37:g.28498408C>T	ENSP00000370421:p.Ala141Val	NA	O60594|Q5VYW2	37	CCDS9327.1	.	.	.	.	.	.	.	.	.	.	C	8.188	0.795312	0.16327	.	.	ENSG00000139515	ENST00000381033	D	0.95622	-3.76	5.01	2.85	0.33270	Homeodomain-related (1);Homeodomain-like (1);	0.225794	0.45867	N	0.000321	T	0.78991	0.4371	N	0.01048	-1.04	0.38873	D	0.956732	B	0.10296	0.003	B	0.06405	0.002	T	0.74028	-0.3796	10	0.02654	T	1	.	4.2161	0.10535	0.0:0.5026:0.0:0.4974	.	141	P52945	PDX1_HUMAN	V	141	ENSP00000370421:A141V	ENSP00000370421:A141V	A	+	2	0	PDX1	27396408	0.756000	0.28383	0.178000	0.23040	0.490000	0.33462	1.051000	0.30417	1.232000	0.43678	0.561000	0.74099	GCG	PDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044310.2		+	ENST00000381033.4	Missense_Mutation	SNP	13 : 28498408 - 28498408 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	137	26
SULF1	23213	broad.mit.edu	37	8	70517147	70517147	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70517147G>A	ENST00000260128.4	+	13	2074	c.1357G>A	c.(1357-1359)Gcc>Acc	p.A453T	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.A453T|SULF1_ENST00000402687.4_Missense_Mutation_p.A453T|SULF1_ENST00000458141.2_Missense_Mutation_p.A453T	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	453					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GTACCAGACAGCCTGTGAACA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	92	92			NA	NA	8		NA											NA				70517147		2203	4300	6503	SO:0001583	missense			AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573	23213	23213			20391	protein-coding gene	gene with protein product		610012			NA	12368295	Standard	NM_015170	NM_015170	NA	Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1357G>A	8.37:g.70517147G>A	ENSP00000260128:p.Ala453Thr	NA	Q86YV8|Q8NCA2|Q9UPS5	37	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016150	0.75161	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.98926	-5.24;-5.24;-5.24;-5.24	6.04	6.04	0.98038	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.046975	0.85682	D	0.000000	D	0.97297	0.9116	L	0.35723	1.085	0.52099	D	0.999942	P	0.45078	0.85	B	0.42738	0.396	D	0.97297	0.9928	10	0.54805	T	0.06	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	453	Q8IWU6	SULF1_HUMAN	T	453	ENSP00000403040:A453T;ENSP00000260128:A453T;ENSP00000385704:A453T;ENSP00000390315:A453T	ENSP00000260128:A453T	A	+	1	0	SULF1	70679701	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.174000	0.71943	2.873000	0.98535	0.561000	0.74099	GCC	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378885.2		+	ENST00000260128.4	Missense_Mutation	SNP	8 : 70517147 - 70517147 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	521	84
FTMT	94033	broad.mit.edu	37	5	121187812	121187812	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121187812G>A	ENST00000321339.1	+	1	163	c.154G>A	c.(154-156)Gcc>Acc	p.A52T		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	52					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CCTGGCCGCAGCCGCCTCCTC	0.766		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													6	8	7			NA	NA	5		NA											NA				121187812		2082	4087	6169	SO:0001583	missense			BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867	94033	94033			17345	protein-coding gene	gene with protein product		608847			NA	11323407	Standard	NM_177478	NM_177478	NA	Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.154G>A	5.37:g.121187812G>A	ENSP00000313691:p.Ala52Thr	NA		37	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.599650	0.28534	.	.	ENSG00000181867	ENST00000321339	T	0.63744	-0.06	3.21	1.22	0.21188	.	.	.	.	.	T	0.38852	0.1056	L	0.27053	0.805	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.18555	-1.0333	9	0.11485	T	0.65	.	1.9809	0.03426	0.1191:0.1819:0.4801:0.2189	.	52	Q8N4E7	FTMT_HUMAN	T	52	ENSP00000313691:A52T	ENSP00000313691:A52T	A	+	1	0	FTMT	121215711	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.002000	0.13061	0.295000	0.22570	0.460000	0.39030	GCC	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250884.1		+	ENST00000321339.1	Missense_Mutation	SNP	5 : 121187812 - 121187812 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	147	25
GBX1	2636	broad.mit.edu	37	7	150864194	150864194	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150864194G>A	ENST00000297537.4	-	1	441	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	GBX1_ENST00000475831.1_5'UTR	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	148	Pro-rich.					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCAGCTTCCAGCCCACCCTCT	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	23	21			NA	NA	7		NA											NA				150864194		1863	4094	5957	SO:0001819	synonymous_variant			L11239	CCDS43682.1	7q36.1	2012-03-09	2005-12-22		ENSG00000164900	ENSG00000164900	2636	2636		Homeoboxes / ANTP class : HOXL subclass	4185	protein-coding gene	gene with protein product		603354	gastrulation brain homeo box 1		NA	7903253	Standard		NM_001098834	NA	Approved		uc011kvg.2	Q14549	OTTHUMG00000158751	ENST00000297537.4:c.442C>T	7.37:g.150864194G>A		NA		37	CCDS43682.1																																																																																			GBX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352029.1		-	ENST00000297537.4	Silent	SNP	7 : 150864194 - 150864194 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	282	52
DMXL2	23312	broad.mit.edu	37	15	51750948	51750948	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51750948G>T	ENST00000251076.5	-	34	8255	c.7968C>A	c.(7966-7968)atC>atA	p.I2656I	RP11-707P17.2_ENST00000559977.1_RNA|DMXL2_ENST00000543779.2_Silent_p.I2657I|RP11-707P17.2_ENST00000559173.1_RNA|DMXL2_ENST00000449909.3_Silent_p.I2020I|RP11-707P17.2_ENST00000560727.1_RNA|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2656						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATTCCTTATGGATGACTTTCG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	113	115			NA	NA	15		NA											NA				51750948		2196	4293	6489	SO:0001819	synonymous_variant			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093	23312	23312		WD repeat domain containing	2938	protein-coding gene	gene with protein product	rabconnectin 3	612186			NA		Standard	NM_015263	NM_001174116	NA	Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.7968C>A	15.37:g.51750948G>T		NA	O94938	37	CCDS10141.1																																																																																			DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254671.2		-	ENST00000251076.5	Silent	SNP	15 : 51750948 - 51750948 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	477	78
BAI1	575	broad.mit.edu	37	8	143603441	143603441	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143603441G>A	ENST00000517894.1	+	21	4034	c.3140G>A	c.(3139-3141)cGc>cAc	p.R1047H	BAI1_ENST00000323289.5_Missense_Mutation_p.R1047H			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1047					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CTCCGGAACCGCCTCATCCGC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	40	36			NA	NA	8		NA											NA				143603441		2200	4298	6498	SO:0001583	missense			AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790	575	575		-, GPCR / Class B : Orphans	943	protein-coding gene	gene with protein product		602682			NA	9533023	Standard	NM_001702	NM_001702	NA	Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3140G>A	8.37:g.143603441G>A	ENSP00000430945:p.Arg1047His	NA		37		.	.	.	.	.	.	.	.	.	.	G	23.9	4.474454	0.84640	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.49720	0.77;0.77	3.78	3.78	0.43462	.	0.162599	0.41938	U	0.000782	T	0.52354	0.1729	L	0.46567	1.45	0.46131	D	0.99888	P	0.48016	0.904	P	0.51974	0.686	T	0.53823	-0.8384	10	0.42905	T	0.14	.	14.6053	0.68475	0.0:0.0:1.0:0.0	.	1047	E9PBK0	.	H	1047	ENSP00000430945:R1047H;ENSP00000313046:R1047H	ENSP00000313046:R1047H	R	+	2	0	BAI1	143600443	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.699000	0.84547	1.641000	0.50575	0.305000	0.20034	CGC	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000379963.3		+	ENST00000517894.1	Missense_Mutation	SNP	8 : 143603441 - 143603441 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	262	68
FRYL	285527	broad.mit.edu	37	4	48607807	48607807	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48607807T>G	ENST00000503238.1	-	8	784	c.785A>C	c.(784-786)aAa>aCa	p.K262T	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000506685.1_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.K262T|FRYL_ENST00000358350.4_Missense_Mutation_p.K262T|FRYL_ENST00000507711.1_Missense_Mutation_p.K262T			O94915	FRYL_HUMAN	FRY-like	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AAGTGCATGTTTTATATCTTT	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	115	114			NA	NA	4		NA											NA				48607807		1825	4090	5915	SO:0001583	missense			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539	285527	285527			29127	protein-coding gene	gene with protein product			KIAA0826, furry homolog-like (Drosophila)	KIAA0826	NA	10048485	Standard		NM_015030	NA	Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.785A>C	4.37:g.48607807T>G	ENSP00000426064:p.Lys262Thr	NA	O95640|Q8WTZ5|Q9NT40	37	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.839186	0.91117	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.2	5.66	5.66	0.87406	Armadillo-type fold (1);	0.000000	0.64402	U	0.000001	D	0.82660	0.5085	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	0.991;1.0	D;D	0.87578	0.982;0.998	D	0.85140	0.0980	10	0.72032	D	0.01	.	15.8777	0.79178	0.0:0.0:0.0:1.0	.	262;262	F2Z2S2;O94915	.;FRYL_HUMAN	T	262	ENSP00000426064:K262T;ENSP00000351113:K262T;ENSP00000441114:K262T;ENSP00000421584:K262T	ENSP00000351113:K262T	K	-	2	0	FRYL	48302564	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.997000	0.88414	2.151000	0.67156	0.482000	0.46254	AAA	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369265.2		-	ENST00000503238.1	Missense_Mutation	SNP	4 : 48607807 - 48607807 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	380	15
KCTD19	146212	broad.mit.edu	37	16	67333397	67333397	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67333397C>T	ENST00000304372.5	-	6	910	c.855G>A	c.(853-855)ccG>ccA	p.P285P	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	285						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TTGTGTAGAGCGGTTTCACGG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	103	100			NA	NA	16		NA											NA				67333397		2000	4157	6157	SO:0001819	synonymous_variant			AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676	146212	146212			24753	protein-coding gene	gene with protein product			potassium channel tetramerisation domain containing 19		NA		Standard	XM_085367	NM_001100915	NA	Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.855G>A	16.37:g.67333397C>T		NA	B4DZ49|Q8N804	37	CCDS42179.1																																																																																			KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000422061.1		-	ENST00000304372.5	Silent	SNP	16 : 67333397 - 67333397 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	928	140
USH2A	7399	broad.mit.edu	37	1	215990410	215990410	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215990410G>A	ENST00000307340.3	-	48	9885	c.9499C>T	c.(9499-9501)Ctc>Ttc	p.L3167F	USH2A_ENST00000366943.2_Missense_Mutation_p.L3167F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3167	Fibronectin type-III 18.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCCTTGCAGAGCTCATCACTC	0.413		NA								HNSCC(13;0.011)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	152	157			NA	NA	1		NA											NA				215990410		2203	4299	6502	SO:0001583	missense			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781	7399	7399		Fibronectin type III domain containing	12601	protein-coding gene	gene with protein product	usherin	608400		USH2	NA	9624053, 10729113	Standard	NM_007123	NM_007123	NA	Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9499C>T	1.37:g.215990410G>A	ENSP00000305941:p.Leu3167Phe	NA	Q5VVM9|Q6S362|Q9NS27	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	7.214	0.595959	0.13875	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.13778	2.57;2.56	5.02	0.121	0.14695	Fibronectin, type III (2);	0.468942	0.16745	N	0.201268	T	0.06781	0.0173	L	0.36672	1.1	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.37572	-0.9700	10	0.08837	T	0.75	.	0.8745	0.01221	0.3763:0.2639:0.2076:0.1522	.	3167	O75445	USH2A_HUMAN	F	3167	ENSP00000305941:L3167F;ENSP00000355910:L3167F	ENSP00000305941:L3167F	L	-	1	0	USH2A	214057033	0.000000	0.05858	0.342000	0.25602	0.513000	0.34164	-0.152000	0.10159	0.188000	0.20168	0.561000	0.74099	CTC	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128138.1		-	ENST00000307340.3	Missense_Mutation	SNP	1 : 215990410 - 215990410 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	658	22
AMOTL2	51421	broad.mit.edu	37	3	134084677	134084677	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134084677C>T	ENST00000514516.1	-	5	1613	c.1435G>A	c.(1435-1437)Gcc>Acc	p.A479T	AMOTL2_ENST00000513145.1_Missense_Mutation_p.A421T|AMOTL2_ENST00000422605.2_Missense_Mutation_p.A421T|AMOTL2_ENST00000249883.5_Missense_Mutation_p.A421T	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	421										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						AGCAGCTTGGCCACCATGTCC	0.567		NA											C	1	5e-04	NA	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0													92	89	90			NA	NA	3		NA											NA				134084677		2203	4300	6503	SO:0001583	missense			AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019	51421	51421			17812	protein-coding gene	gene with protein product	Leman coiled-coil protein, angiomotin-like protein 2	614658			NA		Standard	NM_016201	NM_016201	NA	Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000514516.1:c.1435G>A	3.37:g.134084677C>T	ENSP00000424765:p.Ala479Thr	NA	A8K6F1|Q53EP1|Q96F99|Q9UKB4	37		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	22.6	4.311178	0.81358	.	.	ENSG00000114019	ENST00000249883;ENST00000422605;ENST00000514516;ENST00000513145	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	4.76	4.76	0.60689	.	0.123656	0.56097	D	0.000030	T	0.31702	0.0805	L	0.52573	1.65	0.58432	D	0.99999	D;D;D	0.56521	0.975;0.975;0.976	P;P;P	0.49799	0.591;0.591;0.622	T	0.01904	-1.1250	10	0.39692	T	0.17	-17.4922	12.9886	0.58606	0.1614:0.8386:0.0:0.0	.	421;421;479	Q9Y2J4-3;Q9Y2J4-2;E9PHW3	.;.;.	T	421;421;479;421	ENSP00000249883:A421T;ENSP00000409999:A421T;ENSP00000424765:A479T;ENSP00000425475:A421T	ENSP00000249883:A421T	A	-	1	0	AMOTL2	135567367	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.032000	0.64140	2.465000	0.83290	0.455000	0.32223	GCC	AMOTL2-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000357274.2		-	ENST00000514516.1	Missense_Mutation	SNP	3 : 134084677 - 134084677 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	592	95
TLR9	54106	broad.mit.edu	37	3	52256221	52256221	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52256221C>T	ENST00000494383.1	-	5	2570	c.2571G>A	c.(2569-2571)ccG>ccA	p.P857P	TLR9_ENST00000597542.1_Missense_Mutation_p.R728Q|TLR9_ENST00000360658.2_Missense_Mutation_p.R704Q			Q9NR96	TLR9_HUMAN	toll-like receptor 9	0					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	ATCCAGCCTCCGGAGCCGGGT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	46	44			NA	NA	3		NA											NA				52256221		2203	4300	6503	SO:0001819	synonymous_variant			AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732	54106	54106		CD molecules	15633	protein-coding gene	gene with protein product		605474			NA	11022119	Standard		NM_017442	NA	Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000494383.1:c.2571G>A	3.37:g.52256221C>T		NA	B3Y661|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	37		.	.	.	.	.	.	.	.	.	.	C	0.111	-1.138269	0.01742	.	.	ENSG00000239732	ENST00000360658	T	0.58506	0.33	5.03	-4.47	0.03525	.	0.711076	0.11608	N	0.547128	T	0.28896	0.0717	N	0.17674	0.51	0.09310	N	1	B;B	0.20550	0.007;0.046	B;B	0.12837	0.002;0.008	T	0.37079	-0.9721	10	0.02654	T	1	.	6.3756	0.21505	0.1466:0.5007:0.0:0.3527	.	801;704	B4E0A1;Q9NR96	.;TLR9_HUMAN	Q	704	ENSP00000353874:R704Q	ENSP00000353874:R704Q	R	-	2	0	TLR9	52231261	0.000000	0.05858	0.000000	0.03702	0.202000	0.24057	-2.632000	0.00870	-0.844000	0.04184	0.462000	0.41574	CGG	TLR9-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000367019.1		-	ENST00000494383.1	Silent	SNP	3 : 52256221 - 52256221 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	398	36
CARD10	29775	broad.mit.edu	37	22	37892461	37892461	+	Missense_Mutation	SNP	G	G	A	rs142113268		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37892461G>A	ENST00000403299.1	-	14	2270	c.2054C>T	c.(2053-2055)tCg>tTg	p.S685L	CARD10_ENST00000251973.5_Missense_Mutation_p.S685L|CARD10_ENST00000406271.3_Missense_Mutation_p.S399L			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	685					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CTTACCCTTCGAGTCCATCAG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	65	57	60		2054	-1.8	0	22	dbSNP_134	60	0,8600		0,0,4300	no	missense	CARD10	NM_014550.3	145	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	benign	685/1033	37892461	1,13005	2203	4300	6503	SO:0001583	missense			AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065	29775	29775			16422	protein-coding gene	gene with protein product		607209			NA	11259443, 11356195	Standard	NM_014550	NM_014550	NA	Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.2054C>T	22.37:g.37892461G>A	ENSP00000384570:p.Ser685Leu	NA	Q14CQ8|Q5TFG6|Q9UGR5|Q9UGR6|Q9Y3H0	37	CCDS13948.1	.	.	.	.	.	.	.	.	.	.	G	5.125	0.208596	0.09757	2.27E-4	0.0	ENSG00000100065	ENST00000403299;ENST00000406271;ENST00000251973;ENST00000437756;ENST00000433485	T;T;T;T	0.39229	1.09;2.78;1.09;1.57	4.94	-1.77	0.07982	.	1.591350	0.03379	N	0.200117	T	0.22166	0.0534	N	0.16478	0.41	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.0;0.002	T	0.07654	-1.0761	10	0.13470	T	0.59	-1.7014	2.3847	0.04363	0.1914:0.2315:0.4599:0.1172	.	685;399	Q9BWT7;Q8NC81	CAR10_HUMAN;.	L	685;399;685;326;157	ENSP00000384570:S685L;ENSP00000385799:S399L;ENSP00000251973:S685L;ENSP00000416239:S326L	ENSP00000251973:S685L	S	-	2	0	CARD10	36222407	0.000000	0.05858	0.038000	0.18304	0.719000	0.41307	-0.083000	0.11286	-0.149000	0.11215	0.561000	0.74099	TCG	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318997.1		-	ENST00000403299.1	Missense_Mutation	SNP	22 : 37892461 - 37892461 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	304	55
PRSS12	8492	broad.mit.edu	37	4	119253000	119253000	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119253000C>T	ENST00000296498.3	-	4	1124	c.842G>A	c.(841-843)cGc>cAc	p.R281H		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	281	SRCR 2.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TCCAGCAAGGCGAATGATGGG	0.458		NA											C	0	0	NA	NA	2184	NA	1	,	,	NA	2e-04	NA	NA	NA	0	0.05	EXOME	NA	NA	5e-04	SNP								NA				0													75	69	71			NA	NA	4		NA											NA				119253000		2203	4300	6503	SO:0001583	missense			AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099	8492	8492		Serine peptidases / Serine peptidases	9477	protein-coding gene	gene with protein product		606709			NA	9540828, 9245503	Standard		NM_003619	NA	Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.842G>A	4.37:g.119253000C>T	ENSP00000296498:p.Arg281His	NA	Q9UP16	37	CCDS3709.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	18.21	3.574041	0.65765	.	.	ENSG00000164099	ENST00000296498	T	0.53857	0.6	6.04	5.19	0.71726	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	D	0.83871	0.5348	H	0.98883	4.36	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.90794	0.4689	10	0.87932	D	0	.	15.8315	0.78757	0.0:0.8652:0.1348:0.0	.	281	P56730	NETR_HUMAN	H	281	ENSP00000296498:R281H	ENSP00000296498:R281H	R	-	2	0	PRSS12	119472448	1.000000	0.71417	0.734000	0.30879	0.017000	0.09413	7.118000	0.77137	1.557000	0.49525	0.561000	0.74099	CGC	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256516.2		-	ENST00000296498.3	Missense_Mutation	SNP	4 : 119253000 - 119253000 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	363	58
PTPRC	5788	broad.mit.edu	37	1	198687417	198687417	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:198687417G>A	ENST00000442510.2	+	14	1786	c.1645G>A	c.(1645-1647)Gac>Aac	p.D549N	PTPRC_ENST00000367376.2_Missense_Mutation_p.D547N|PTPRC_ENST00000348564.6_Missense_Mutation_p.D388N|PTPRC_ENST00000352140.3_Missense_Mutation_p.D499N|PTPRC_ENST00000594404.1_Missense_Mutation_p.D386N			P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	547	Fibronectin type-III 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ATATTCAACAGACTACACTTT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	50	51			NA	NA	1		NA											NA				198687417		2202	4300	6502	SO:0001583	missense			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237	5788	5788		CD molecules, Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing	9666	protein-coding gene	gene with protein product		151460		CD45	NA	2169617	Standard		NM_001267798	NA	Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000442510.2:c.1645G>A	1.37:g.198687417G>A	ENSP00000411355:p.Asp549Asn	NA	A8K7W6|Q16614|Q9H0Y6	37	CCDS1397.2	.	.	.	.	.	.	.	.	.	.	g	0.270	-0.993669	0.02145	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T	0.56103	0.48	4.52	-9.04	0.00734	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.959790	0.02323	N	0.073205	T	0.23492	0.0568	N	0.04508	-0.205	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.001;0.001;0.0;0.0	B;B;B;B;B	0.14023	0.005;0.01;0.002;0.002;0.002	T	0.18085	-1.0348	10	0.21540	T	0.41	.	4.5056	0.11885	0.5134:0.169:0.2316:0.086	.	483;483;388;499;547	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	N	549;483;499;499;433;547;481;386	ENSP00000193532:D499N	ENSP00000306782:D386N	D	+	1	0	PTPRC	196954040	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.417000	0.02464	-3.012000	0.00272	-4.551000	0.00004	GAC	PTPRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086814.4		+	ENST00000442510.2	Missense_Mutation	SNP	1 : 198687417 - 198687417 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	132	30
FAM47B	170062	broad.mit.edu	37	X	34961295	34961295	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:34961295C>T	ENST00000329357.5	+	1	383	c.347C>T	c.(346-348)gCg>gTg	p.A116V		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	116										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GCACGGAAGGCGTTCGTAGAG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	83	86			NA	NA	X		NA											NA				34961295		2202	4300	6502	SO:0001583	missense			BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132	170062	170062			26659	protein-coding gene	gene with protein product					NA	14702039	Standard	NM_152631	NM_152631	NA	Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.347C>T	X.37:g.34961295C>T	ENSP00000328307:p.Ala116Val	NA	Q5JQN5|Q6PIG3	37	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	C	8.314	0.822692	0.16678	.	.	ENSG00000189132	ENST00000329357	T	0.20069	2.1	0.843	0.843	0.18935	.	.	.	.	.	T	0.14917	0.0360	L	0.38953	1.18	0.09310	N	1	B	0.23891	0.093	B	0.14578	0.011	T	0.21177	-1.0253	9	0.45353	T	0.12	.	7.2872	0.26346	0.0:0.9999:0.0:1.0E-4	.	116	Q8NA70	FA47B_HUMAN	V	116	ENSP00000328307:A116V	ENSP00000328307:A116V	A	+	2	0	FAM47B	34871216	0.002000	0.14202	0.016000	0.15963	0.006000	0.05464	0.074000	0.14662	0.695000	0.31675	0.292000	0.19580	GCG	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056211.1		+	ENST00000329357.5	Missense_Mutation	SNP	X : 34961295 - 34961295 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	408	109
SYMPK	8189	broad.mit.edu	37	19	46332306	46332306	+	Missense_Mutation	SNP	G	G	A	rs146919889	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46332306G>A	ENST00000245934.7	-	14	2151	c.1907C>T	c.(1906-1908)tCg>tTg	p.S636L		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	636					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CAGGGAGCCCGAGGCACCTGC	0.642		NA											G	3	0.0014	0.01	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0014	0.9844	LOWCOV,EXOME	NA	NA	0.0025	SNP								NA				0													70	69	69			NA	NA	19		NA											NA				46332306		2203	4300	6503	SO:0001583	missense			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755	8189	8189			22935	protein-coding gene	gene with protein product		602388			NA	9330635	Standard	NM_004819	NM_004819	NA	Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1907C>T	19.37:g.46332306G>A	ENSP00000245934:p.Ser636Leu	NA	O00521|O00689|O00733|Q59GT5|Q8N2U5	37	CCDS12676.2	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	9.176	1.022306	0.19433	.	.	ENSG00000125755	ENST00000245934	.	.	.	4.94	3.89	0.44902	Armadillo-type fold (1);	0.507425	0.20457	N	0.091966	T	0.28001	0.0690	M	0.65498	2.005	0.20638	N	0.999872	B;B	0.32862	0.138;0.387	B;B	0.19391	0.009;0.025	T	0.12451	-1.0547	9	0.27785	T	0.31	.	10.702	0.45933	0.0:0.0:0.8091:0.1909	.	651;636	Q4LE61;Q92797	.;SYMPK_HUMAN	L	636	.	ENSP00000245934:S636L	S	-	2	0	SYMPK	51024146	0.291000	0.24352	0.062000	0.19696	0.120000	0.20174	3.211000	0.51137	1.081000	0.41110	0.456000	0.33151	TCG	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316581.1		-	ENST00000245934.7	Missense_Mutation	SNP	19 : 46332306 - 46332306 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	506	52
OFD1	8481	broad.mit.edu	37	X	13767603	13767603	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:13767603C>T	ENST00000380567.1	+	10	1338	c.466C>T	c.(466-468)Cta>Tta	p.L156L	OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Silent_p.L296L|OFD1_ENST00000340096.6_Silent_p.L296L|OFD1_ENST00000398395.3_Silent_p.L296L			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	296					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TATGGATTTGCTAAGAGGAAG	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	61	61			NA	NA	X		NA											NA				13767603		2203	4295	6498	SO:0001819	synonymous_variant			Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651	8481	8481			2567	protein-coding gene	gene with protein product		300170	retinitis pigmentosa 23 (X-linked recessive)	CXorf5, RP23	NA	9722947, 9215688, 22619378	Standard	NM_003611	NM_003611	NA	Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000380567.1:c.466C>T	X.37:g.13767603C>T		NA	B9ZVU5|O75666|Q4VAK4	37																																																																																				OFD1-002	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000055809.1		+	ENST00000380567.1	Silent	SNP	X : 13767603 - 13767603 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	222	64
RYR2	6262	broad.mit.edu	37	1	237729908	237729908	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237729908C>A	ENST00000366574.2	+	28	3573	c.3256C>A	c.(3256-3258)Cga>Aga	p.R1086R	RYR2_ENST00000360064.6_Silent_p.R1084R|RYR2_ENST00000542537.1_Silent_p.R1070R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1086	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGAAAGGTTCCGAATCTTCCG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	77	77			NA	NA	1		NA											NA				237729908		1909	4134	6043	SO:0001819	synonymous_variant			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626	6262	6262		Ion channels / Ryanodine receptors, EF-hand domain containing	10484	protein-coding gene	gene with protein product		180902	arrhythmogenic right ventricular dysplasia 2	ARVD2	NA	2380170, 8406504, 11159936	Standard	NM_001035	NM_001035	NA	Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3256C>A	1.37:g.237729908C>A		NA	Q15411|Q546N8|Q5T3P2	37	CCDS55691.1																																																																																			RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095402.2		+	ENST00000366574.2	Silent	SNP	1 : 237729908 - 237729908 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	333	104
PXDN	7837	broad.mit.edu	37	2	1680761	1680761	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1680761G>A	ENST00000252804.4	-	8	836	c.786C>T	c.(784-786)acC>acT	p.T262T		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	262	Ig-like C2-type 1.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGAAGTACACGGTGTTCCCCG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	73	70			NA	NA	2		NA											NA				1680761		1993	4173	6166	SO:0001819	synonymous_variant			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508	7837	7837		Immunoglobulin superfamily / I-set domain containing	14966	protein-coding gene	gene with protein product		605158			NA	10441517, 9039502	Standard	XM_056455	XM_005264707	NA	Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.786C>T	2.37:g.1680761G>A		NA	A8QM65|D6W4Y0|Q4KMG2	37	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.453|3.453	-0.111536|-0.111536	0.06881|0.06881	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000433670|ENST00000447941	.|.	.|.	.|.	4.77|4.77	-9.54|-9.54	0.00572|0.00572	.|.	.|.	.|.	.|.	.|.	T|T	0.30947|0.30947	0.0781|0.0781	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.39418|0.39418	-0.9615|-0.9615	4|4	.|.	.|.	.|.	-26.0331|-26.0331	0.3493|0.3493	0.00346|0.00346	0.3348:0.2419:0.1617:0.2616|0.3348:0.2419:0.1617:0.2616	.|.	.|.	.|.	.|.	L|C	258|186	.|.	.|.	P|R	-|-	2|1	0|0	PXDN|PXDN	1659768|1659768	0.000000|0.000000	0.05858|0.05858	0.500000|0.500000	0.27589|0.27589	0.539000|0.539000	0.34962|0.34962	-3.664000|-3.664000	0.00399|0.00399	-2.386000|-2.386000	0.00590|0.00590	-1.553000|-1.553000	0.00894|0.00894	CCG|CGT	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322505.1		-	ENST00000252804.4	Silent	SNP	2 : 1680761 - 1680761 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	104	16
RPUSD4	84881	broad.mit.edu	37	11	126079531	126079531	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126079531G>A	ENST00000298317.4	-	3	495	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	RPUSD4_ENST00000534393.1_5'UTR|RPUSD4_ENST00000533628.1_Silent_p.L148L	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	148					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		CGGTGGCACAGATGCAAGGGC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													237	220	226			NA	NA	11		NA											NA				126079531		2201	4299	6500	SO:0001819	synonymous_variant			BC014131	CCDS8469.1, CCDS53721.1	11q24.2	2013-02-11			ENSG00000165526	ENSG00000165526	84881	84881		RNA pseudouridylate synthase domain containing	25898	protein-coding gene	gene with protein product					NA		Standard	NM_032795	NM_032795	NA	Approved	FLJ14494	uc001qde.3	Q96CM3	OTTHUMG00000165815	ENST00000298317.4:c.442C>T	11.37:g.126079531G>A		NA	Q96K56	37	CCDS8469.1																																																																																			RPUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386336.1		-	ENST00000298317.4	Silent	SNP	11 : 126079531 - 126079531 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1415	234
DAAM1	23002	broad.mit.edu	37	14	59814285	59814285	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59814285C>T	ENST00000395125.1	+	17	2157	c.2134C>T	c.(2134-2136)Cgg>Tgg	p.R712W	DAAM1_ENST00000351081.1_Missense_Mutation_p.R712W|DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000360909.3_Missense_Mutation_p.R702W	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	712	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CGAAATCAAACGGGCAATTCT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	69	72			NA	NA	14		NA											NA				59814285		2203	4300	6503	SO:0001583	missense			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592	23002	23002			18142	protein-coding gene	gene with protein product		606626			NA	11779461, 18162551	Standard	NM_014992	NM_014992	NA	Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.2134C>T	14.37:g.59814285C>T	ENSP00000378557:p.Arg712Trp	NA	Q86U34|Q8N1Z8|Q8TB39	37	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261330	0.80246	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	T;T;T	0.35236	1.32;1.32;1.32	6.06	5.16	0.70880	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.66076	0.2753	M	0.86420	2.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.978;0.995	T	0.73799	-0.3869	10	0.72032	D	0.01	.	16.6315	0.85035	0.131:0.869:0.0:0.0	.	702;712	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	W	702;712;712;712	ENSP00000354162:R702W;ENSP00000247170:R712W;ENSP00000378557:R712W	ENSP00000247170:R712W	R	+	1	2	DAAM1	58884038	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.930000	0.48924	1.523000	0.49018	0.650000	0.86243	CGG	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276942.2		+	ENST00000395125.1	Missense_Mutation	SNP	14 : 59814285 - 59814285 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	217	23
BUD13	84811	broad.mit.edu	37	11	116627904	116627904	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:116627904C>A	ENST00000375445.3	-	9	1344	c.1322G>T	c.(1321-1323)aGa>aTa	p.R441I	BUD13_ENST00000260210.4_Missense_Mutation_p.R575I	NM_001159736.1	NP_001153208.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	575										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GATATTAAATCTGTTGGGAGG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	77	78			NA	NA	11		NA											NA				116627904		2201	4296	6497	SO:0001583	missense			BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656	84811	84811			28199	protein-coding gene	gene with protein product	functional spliceosome-associated protein 71		BUD13 homolog (yeast)		NA	12477932	Standard	NM_032725	NM_032725	NA	Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000375445.3:c.1322G>T	11.37:g.116627904C>A	ENSP00000364594:p.Arg441Ile	NA	A8K0S0|Q96LS7	37	CCDS53712.1	.	.	.	.	.	.	.	.	.	.	C	35	5.454206	0.96223	.	.	ENSG00000137656	ENST00000375445;ENST00000260210	T;T	0.68181	0.07;-0.31	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.88358	0.6415	H	0.95816	3.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90556	0.4512	10	0.87932	D	0	-17.0014	20.5801	0.99389	0.0:1.0:0.0:0.0	.	441;575	Q9BRD0-2;Q9BRD0	.;BUD13_HUMAN	I	441;575	ENSP00000364594:R441I;ENSP00000260210:R575I	ENSP00000260210:R575I	R	-	2	0	BUD13	116133114	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.287000	0.78681	2.873000	0.98535	0.643000	0.83706	AGA	BUD13-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000104865.1		-	ENST00000375445.3	Missense_Mutation	SNP	11 : 116627904 - 116627904 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	198	34
TP53BP1	7158	broad.mit.edu	37	15	43705430	43705430	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43705430T>G	ENST00000382039.3	-	23	5103	c.5042A>C	c.(5041-5043)aAg>aCg	p.K1681T	TP53BP1_ENST00000382044.4_Missense_Mutation_p.K1731T|TP53BP1_ENST00000263801.3_Missense_Mutation_p.K1726T|TP53BP1_ENST00000450115.2_Missense_Mutation_p.K1729T			Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1726					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		AAACAAGGTCTTGTTGAGAGG	0.562		NA						Other conserved DNA damage response genes						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	87	93			NA	NA	15		NA											NA				43705430		2201	4298	6499	SO:0001583	missense			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369	7158	7158			11999	protein-coding gene	gene with protein product		605230	tumor protein p53-binding protein, 1		NA	8016121, 9748285	Standard		NM_005657	NA	Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000382039.3:c.5042A>C	15.37:g.43705430T>G	ENSP00000371470:p.Lys1681Thr	NA	Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	37		.	.	.	.	.	.	.	.	.	.	T	23.2	4.392771	0.83011	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15	6.03	6.03	0.97812	BRCT (3);	0.159621	0.56097	D	0.000022	D	0.91845	0.7419	L	0.54323	1.7	0.48185	D	0.999607	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	D	0.91443	0.5175	10	0.45353	T	0.12	-18.3041	16.5582	0.84512	0.0:0.0:0.0:1.0	.	1726;1731;1729	Q12888;Q12888-2;F8VY86	TP53B_HUMAN;.;.	T	1726;1731;1681;1729	ENSP00000263801:K1726T;ENSP00000371475:K1731T;ENSP00000371470:K1681T;ENSP00000393497:K1729T	ENSP00000263801:K1726T	K	-	2	0	TP53BP1	41492722	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.259000	0.51515	2.308000	0.77769	0.533000	0.62120	AAG	TP53BP1-004	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000132899.3		-	ENST00000382039.3	Missense_Mutation	SNP	15 : 43705430 - 43705430 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	254	50
UBXN10	127733	broad.mit.edu	37	1	20517570	20517570	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20517570G>T	ENST00000375099.3	+	2	600	c.516G>T	c.(514-516)agG>agT	p.R172S		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	172										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						CCGTGGAGAGGAAATTCATCG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	76	75			NA	NA	1		NA											NA				20517570		2203	4300	6503	SO:0001583	missense			AK058158	CCDS205.1	1p36.13	2008-07-25	2008-07-25	2008-07-25	ENSG00000162543	ENSG00000162543	127733	127733		UBX domain containing	26354	protein-coding gene	gene with protein product			UBX domain containing 3	UBXD3	NA	12477932	Standard	NM_152376	NM_152376	NA	Approved	FLJ25429	uc001bdb.3	Q96LJ8	OTTHUMG00000002708	ENST00000375099.3:c.516G>T	1.37:g.20517570G>T	ENSP00000364240:p.Arg172Ser	NA	Q5R386	37	CCDS205.1	.	.	.	.	.	.	.	.	.	.	G	4.906	0.168388	0.09339	.	.	ENSG00000162543	ENST00000375099	.	.	.	4.66	2.67	0.31697	.	0.973186	0.08458	N	0.942867	T	0.40119	0.1104	L	0.48362	1.52	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.27365	-1.0076	9	0.18276	T	0.48	-4.3621	10.3827	0.44121	0.0872:0.1469:0.766:0.0	.	172	Q96LJ8	UBX10_HUMAN	S	172	.	ENSP00000364240:R172S	R	+	3	2	UBXN10	20390157	0.867000	0.29959	0.099000	0.21106	0.066000	0.16364	2.421000	0.44688	1.168000	0.42723	0.591000	0.81541	AGG	UBXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007693.1		+	ENST00000375099.3	Missense_Mutation	SNP	1 : 20517570 - 20517570 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	336	33
C4orf21	0	broad.mit.edu	37	4	113502905	113502905	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113502905G>T	ENST00000505019.1	-	16	4477	c.4352C>A	c.(4351-4353)aCt>aAt	p.T1451N		NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN		0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AGGATTTACAGTAGTAAACTT	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	82	84			NA	NA	4		NA											NA				113502905		2203	4296	6499	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000505019.1:c.4352C>A	4.37:g.113502905G>T	ENSP00000424737:p.Thr1451Asn	NA	Q9NUJ4	37		.	.	.	.	.	.	.	.	.	.	G	6.492	0.458880	0.12342	.	.	ENSG00000138658	ENST00000505019	D	0.81821	-1.54	5.19	1.16	0.20824	.	1.178510	0.06265	N	0.694642	T	0.59252	0.2180	N	0.08118	0	0.09310	N	1	B	0.18310	0.027	B	0.11329	0.006	T	0.47471	-0.9115	10	0.17369	T	0.5	-3.9906	4.3025	0.10932	0.2408:0.0:0.3005:0.4587	.	1451	G5EA02	.	N	1451	ENSP00000424737:T1451N	ENSP00000404365:T349N	T	-	2	0	C4orf21	113722354	0.031000	0.19500	0.001000	0.08648	0.859000	0.49053	0.934000	0.28910	0.640000	0.30582	0.561000	0.74099	ACT	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000256413.1		-	ENST00000505019.1	Missense_Mutation	SNP	4 : 113502905 - 113502905 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	138	25
ZNF627	199692	broad.mit.edu	37	19	11727882	11727882	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11727882G>A	ENST00000361113.5	+	4	772	c.564G>A	c.(562-564)acG>acA	p.T188T	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						ACATGTTAACGCATAGGGGAG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(112;173 1614 10731 17751 23322)							NA				0													85	88	87			NA	NA	19		NA											NA				11727882		2183	4287	6470	SO:0001819	synonymous_variant			AK074846	CCDS42502.1	19p13.2	2013-01-08				ENSG00000198551	199692	199692		Zinc fingers, C2H2-type, -	30570	protein-coding gene	gene with protein product		612248			NA	12477932	Standard	NM_145295	NM_145295	NA	Approved	FLJ90365	uc002msk.2	Q7L945		ENST00000361113.5:c.564G>A	19.37:g.11727882G>A		NA	O14846|Q4KMP9|Q6NT81|Q9BRG4	37	CCDS42502.1																																																																																			ZNF627-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458875.1		+	ENST00000361113.5	Silent	SNP	19 : 11727882 - 11727882 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	318	58
GIMAP5	55340	broad.mit.edu	37	7	150440033	150440033	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150440033A>G	ENST00000358647.3	+	3	1173	c.806A>G	c.(805-807)tAc>tGc	p.Y269C	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5	NA										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AACTGGGCATACAAGGCGCTC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	77	86			NA	NA	7		NA											NA				150440033		2203	4300	6503	SO:0001583	missense			AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329	55340	55340		GTPases, IMAP	18005	protein-coding gene	gene with protein product	immune-associated nucleotide-binding protein 5	608086	immune associated nucleotide 4 like 1 (mouse)	IAN4L1	NA		Standard	NM_018384	NM_018384	NA	Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.806A>G	7.37:g.150440033A>G	ENSP00000351473:p.Tyr269Cys	NA		37	CCDS5907.1	.	.	.	.	.	.	.	.	.	.	A	3.517	-0.098624	0.07010	.	.	ENSG00000196329	ENST00000358647;ENST00000447239	T	0.05786	3.39	4.12	-8.24	0.01029	.	3.840650	0.00550	N	0.000240	T	0.02455	0.0075	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39272	-0.9622	10	0.38643	T	0.18	.	6.2565	0.20877	0.2077:0.0806:0.5671:0.1446	.	269	Q96F15	GIMA5_HUMAN	C	269;305	ENSP00000351473:Y269C	ENSP00000351473:Y269C	Y	+	2	0	GIMAP5	150070966	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-6.358000	0.00069	-2.620000	0.00440	-2.048000	0.00412	TAC	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349108.2		+	ENST00000358647.3	Missense_Mutation	SNP	7 : 150440033 - 150440033 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	360	59
PPM1N	147699	broad.mit.edu	37	19	45998110	45998110	+	Missense_Mutation	SNP	C	C	T	rs143302045		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45998110C>T	ENST00000401705.1	+	2	203				RTN2_ENST00000245923.4_Missense_Mutation_p.R78H|RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000589384.1_5'UTR|RTN2_ENST00000344680.4_Missense_Mutation_p.R78H			Q8N819	PPM1N_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)	NA							magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						TGAATCCCTGCGGCCCCCGGA	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	22	21			NA	NA	19		NA											NA				45998110		2202	4297	6499	SO:0001627	intron_variant			AK097444	CCDS46115.1	19q13.32	2012-04-17			ENSG00000213889	ENSG00000213889	147699	147699		Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent	26845	protein-coding gene	gene with protein product					NA		Standard	NM_001080401	NM_001080401	NA	Approved	FLJ40125	uc002pce.3	Q8N819	OTTHUMG00000140397	ENST00000401705.1:c.-15-5097C>T	19.37:g.45998110C>T		NA	Q6P662	37		.	.	.	.	.	.	.	.	.	.	C	16.20	3.054978	0.55325	.	.	ENSG00000125744	ENST00000344680;ENST00000245923	T;T	0.69040	-0.34;-0.37	5.44	5.44	0.79542	.	0.276624	0.26605	N	0.023450	T	0.73877	0.3643	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.965	T	0.75855	-0.3170	10	0.66056	D	0.02	-16.8413	14.7561	0.69567	0.0:1.0:0.0:0.0	.	78;78	O75298-2;O75298	.;RTN2_HUMAN	H	78	ENSP00000345127:R78H;ENSP00000245923:R78H	ENSP00000245923:R78H	R	-	2	0	RTN2	50689950	1.000000	0.71417	0.949000	0.38748	0.058000	0.15608	2.970000	0.49240	2.561000	0.86390	0.462000	0.41574	CGC	PPM1N-008	KNOWN	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000326520.1		+	ENST00000401705.1	Intron	SNP	19 : 45998110 - 45998110 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	214	72
DPH6	89978	broad.mit.edu	37	15	35674051	35674051	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:35674051A>G	ENST00000256538.4	-	7	660	c.634T>C	c.(634-636)Tgc>Cgc	p.C212R	DPH6_ENST00000560386.1_5'UTR	NM_080650.3	NP_542381.1			diphthamine biosynthesis 6	NA											NA						AATAGAGGGCAATCCAAAGTG	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	95	95			NA	NA	15		NA											NA				35674051		2201	4296	6497	SO:0001583	missense				CCDS10043.1, CCDS45213.1	15q14	2013-06-19	2013-06-19	2013-05-02	ENSG00000134146	ENSG00000134146	89978	89978	6.3.1.14		30543	protein-coding gene	gene with protein product	diphthine--ammonia ligase		ATP binding domain 4, DPH6 homolog (S. cerevisiae)	ATPBD4	NA	23169644, 23468660	Standard	NM_080650	NM_080650	NA	Approved	MGC14798		Q7L8W6	OTTHUMG00000129759	ENST00000256538.4:c.634T>C	15.37:g.35674051A>G	ENSP00000256538:p.Cys212Arg	NA		37	CCDS10043.1	.	.	.	.	.	.	.	.	.	.	A	19.83	3.899437	0.72754	.	.	ENSG00000134146	ENST00000256538	T	0.31769	1.48	5.44	5.44	0.79542	Domain of unknown function DUF71, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.68320	0.2988	H	0.95950	3.745	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.79169	-0.1914	10	0.62326	D	0.03	-9.6864	15.6515	0.77099	1.0:0.0:0.0:0.0	.	212	Q7L8W6	ATBD4_HUMAN	R	212	ENSP00000256538:C212R	ENSP00000256538:C212R	C	-	1	0	ATPBD4	33461343	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.757000	0.91657	2.270000	0.75569	0.533000	0.62120	TGC	DPH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251973.1		-	ENST00000256538.4	Missense_Mutation	SNP	15 : 35674051 - 35674051 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	10
SERPINI1	5274	broad.mit.edu	37	3	167508215	167508215	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167508215C>T	ENST00000295777.5	+	3	737	c.306C>T	c.(304-306)agC>agT	p.S102S	SERPINI1_ENST00000446050.2_Silent_p.S102S	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	102					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						CTAAAGAGAGCCAATATGTGA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	90	89			NA	NA	3		NA											NA				167508215		2203	4300	6503	SO:0001819	synonymous_variant			Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536	5274	5274		Serine (or cysteine) peptidase inhibitors	8943	protein-coding gene	gene with protein product		602445	serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1	PI12	NA	24172014	Standard		NM_005025	NA	Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.306C>T	3.37:g.167508215C>T		NA	A8K217|D3DNP1|Q6AHZ4	37	CCDS3203.1																																																																																			SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351056.1		+	ENST00000295777.5	Silent	SNP	3 : 167508215 - 167508215 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	482	58
ADCY1	107	broad.mit.edu	37	7	45753338	45753338	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45753338T>G	ENST00000297323.7	+	20	3126	c.3104T>G	c.(3103-3105)tTt>tGt	p.F1035C		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	1035	Interaction with calmodulin (By similarity).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CCCTACCACTTTGTGTGCCGA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	89	91			NA	NA	7		NA											NA				45753338		2203	4300	6503	SO:0001583	missense			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	107	107	4.6.1.1	Adenylate cyclases	232	protein-coding gene	gene with protein product		103072			NA	8314585	Standard	NM_021116	NM_021116	NA	Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.3104T>G	7.37:g.45753338T>G	ENSP00000297323:p.Phe1035Cys	NA	A4D2L8|Q75MI1	37	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	T	18.84	3.709070	0.68615	.	.	ENSG00000164742	ENST00000297323	T	0.33438	1.41	5.77	5.77	0.91146	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.052646	0.85682	D	0.000000	T	0.33089	0.0851	L	0.39566	1.225	0.53005	D	0.999966	B	0.15473	0.013	B	0.37833	0.259	T	0.14117	-1.0484	10	0.18710	T	0.47	.	14.039	0.64663	0.0:0.0:0.0:1.0	.	1035	Q08828	ADCY1_HUMAN	C	1035	ENSP00000297323:F1035C	ENSP00000297323:F1035C	F	+	2	0	ADCY1	45719863	1.000000	0.71417	0.982000	0.44146	0.993000	0.82548	7.599000	0.82757	2.200000	0.70718	0.533000	0.62120	TTT	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340055.2		+	ENST00000297323.7	Missense_Mutation	SNP	7 : 45753338 - 45753338 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	409	77
ZFHX4	79776	broad.mit.edu	37	8	77616625	77616625	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77616625C>A	ENST00000521891.2	+	2	750	c.302C>A	c.(301-303)cCt>cAt	p.P101H	ZFHX4_ENST00000455469.2_Missense_Mutation_p.P101H|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P101H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P101H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	101						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CACCACTGCCCTAATGCCCGC	0.498		NA								HNSCC(33;0.089)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													184	179	180			NA	NA	8		NA											NA				77616625		2041	4183	6224	SO:0001583	missense				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656	79776	79776		Homeoboxes / ZF class	30939	protein-coding gene	gene with protein product		606940	zinc finger homeodomain 4		NA	10873665, 11935336	Standard	NM_024721	NM_024721	NA	Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.302C>A	8.37:g.77616625C>A	ENSP00000430497:p.Pro101His	NA	Q18PS0|Q6ZN20	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	17.62	3.433634	0.62955	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000520307;ENST00000523885;ENST00000517585;ENST00000523809;ENST00000518282	T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.43	5.43	0.79202	.	0.000000	0.44285	U	0.000473	T	0.54806	0.1881	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.999	T	0.57797	-0.7749	10	0.87932	D	0	.	19.4356	0.94792	0.0:1.0:0.0:0.0	.	101;101;101;101	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	H	101	ENSP00000430497:P101H;ENSP00000399605:P101H;ENSP00000050961:P101H;ENSP00000428525:P101H;ENSP00000429495:P101H;ENSP00000427775:P101H;ENSP00000427739:P101H;ENSP00000430848:P101H	ENSP00000050961:P101H	P	+	2	0	ZFHX4	77779180	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	7.293000	0.78740	2.826000	0.97356	0.655000	0.94253	CCT	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379197.2		+	ENST00000521891.2	Missense_Mutation	SNP	8 : 77616625 - 77616625 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	942	167
SEC61A1	29927	broad.mit.edu	37	3	127775659	127775659	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127775659G>A	ENST00000243253.3	+	5	512	c.328G>A	c.(328-330)Gct>Act	p.A110T	SEC61A1_ENST00000424880.2_Intron|SEC61A1_ENST00000464451.1_Missense_Mutation_p.A116T	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	110					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						AAAAGACCGAGCTCTCTTCAA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	68	68			NA	NA	3		NA											NA				127775659		2203	4300	6503	SO:0001583	missense			AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262	29927	29927			18276	protein-coding gene	gene with protein product		609213			NA		Standard	NM_013336	NM_013336	NA	Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.328G>A	3.37:g.127775659G>A	ENSP00000243253:p.Ala110Thr	NA	P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	37	CCDS3046.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893797	0.72639	.	.	ENSG00000058262	ENST00000464451;ENST00000243253;ENST00000481210	.	.	.	5.79	5.79	0.91817	SecY subunit domain (2);	0.000000	0.85682	D	0.000000	T	0.79118	0.4392	M	0.82517	2.595	0.80722	D	1	B	0.18166	0.026	B	0.34991	0.193	T	0.74518	-0.3639	9	0.36615	T	0.2	.	20.0435	0.97601	0.0:0.0:1.0:0.0	.	110	P61619	S61A1_HUMAN	T	116;110;57	.	ENSP00000243253:A110T	A	+	1	0	SEC61A1	129258349	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	9.869000	0.99810	2.731000	0.93534	0.650000	0.86243	GCT	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356541.2		+	ENST00000243253.3	Missense_Mutation	SNP	3 : 127775659 - 127775659 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	344	32
NEFH	4744	broad.mit.edu	37	22	29886650	29886650	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29886650T>A	ENST00000310624.6	+	4	3054	c.3021T>A	c.(3019-3021)ccT>ccA	p.P1007P		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	1013	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						ACAGCAAGCCTCCAGAGAAGG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	34	33			NA	NA	22		NA											NA				29886650		2202	4300	6502	SO:0001819	synonymous_variant				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285	4744	4744		Intermediate filaments type IV	7737	protein-coding gene	gene with protein product		162230	neurofilament, heavy polypeptide 200kDa		NA		Standard	NM_021076	NM_021076	NA	Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.3021T>A	22.37:g.29886650T>A		NA	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	37	CCDS13858.1																																																																																			NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321553.2		+	ENST00000310624.6	Silent	SNP	22 : 29886650 - 29886650 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	240	57
FIGN	55137	broad.mit.edu	37	2	164466940	164466940	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:164466940G>A	ENST00000333129.3	-	3	1716	c.1402C>T	c.(1402-1404)Ctc>Ttc	p.L468F	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	468						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						AGGTCGATGAGGTGCGTGTCA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	133	135			NA	NA	2		NA											NA				164466940		2115	4227	6342	SO:0001583	missense			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263	55137	55137		ATPases / AAA-type	13285	protein-coding gene	gene with protein product		605295			NA	11017077	Standard	NM_018086	XM_005246661	NA	Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1402C>T	2.37:g.164466940G>A	ENSP00000333836:p.Leu468Phe	NA	B3KWM0|Q9H6M5|Q9NVZ9	37	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832114	0.32421	.	.	ENSG00000182263	ENST00000333129	D	0.93859	-3.3	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.94463	0.8218	M	0.70787	2.145	0.80722	D	1	B	0.25667	0.131	B	0.36808	0.233	D	0.92063	0.5658	10	0.72032	D	0.01	-5.8839	20.2723	0.98479	0.0:0.0:1.0:0.0	.	468	Q5HY92	FIGN_HUMAN	F	468	ENSP00000333836:L468F	ENSP00000333836:L468F	L	-	1	0	FIGN	164175186	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.789000	0.69029	2.793000	0.96121	0.563000	0.77884	CTC	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157220.2		-	ENST00000333129.3	Missense_Mutation	SNP	2 : 164466940 - 164466940 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	391	62
TMPRSS11D	9407	broad.mit.edu	37	4	68725349	68725349	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68725349A>G	ENST00000283916.6	-	2	154	c.56T>C	c.(55-57)gTa>gCa	p.V19A	TMPRSS11D_ENST00000509584.1_Intron|TMPRSS11D_ENST00000545541.1_Intron|UBA6-AS1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	19					proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						AATGAAACATACTACATATGG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	95	98			NA	NA	4		NA											NA				68725349		2203	4300	6503	SO:0001583	missense			AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802	9407	9407		Serine peptidases / Transmembrane	24059	protein-coding gene	gene with protein product	airway trypsin like protease	605369			NA	9565616, 9070615	Standard	NM_004262	XM_005265710	NA	Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.56T>C	4.37:g.68725349A>G	ENSP00000283916:p.Val19Ala	NA	Q08AF6	37	CCDS3518.1	.	.	.	.	.	.	.	.	.	.	A	15.03	2.713069	0.48517	.	.	ENSG00000153802	ENST00000283916	D	0.89050	-2.46	5.19	5.19	0.71726	.	0.542419	0.16615	N	0.206730	D	0.86703	0.5996	M	0.63843	1.955	0.42236	D	0.991915	P	0.46784	0.884	B	0.41466	0.358	D	0.85068	0.0938	10	0.31617	T	0.26	.	11.3687	0.49687	1.0:0.0:0.0:0.0	.	19	O60235	TM11D_HUMAN	A	19	ENSP00000283916:V19A	ENSP00000283916:V19A	V	-	2	0	TMPRSS11D	68407944	0.038000	0.19896	0.005000	0.12908	0.070000	0.16714	4.007000	0.57093	2.184000	0.69523	0.460000	0.39030	GTA	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251430.3		-	ENST00000283916.6	Missense_Mutation	SNP	4 : 68725349 - 68725349 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	40
NPY2R	4887	broad.mit.edu	37	4	156135449	156135449	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156135449C>T	ENST00000329476.3	+	2	847	c.358C>T	c.(358-360)Cct>Tct	p.P120S	NPY2R_ENST00000506608.1_Missense_Mutation_p.P120S	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	120					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				GAAAATGGGTCCTGTCCTGTG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	68	68			NA	NA	4		NA											NA				156135449		2203	4300	6503	SO:0001583	missense			U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149	4887	4887		GPCR / Class A : Neuropeptide receptors : Y	7957	protein-coding gene	gene with protein product		162642			NA	7559383	Standard	NM_000910	NM_000910	NA	Approved		uc003ioq.3	P49146		ENST00000329476.3:c.358C>T	4.37:g.156135449C>T	ENSP00000332591:p.Pro120Ser	NA	Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	37	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	C	0.168	-1.074551	0.01903	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.70986	-0.53;-0.53	5.44	2.74	0.32292	GPCR, rhodopsin-like superfamily (1);	0.640222	0.17149	N	0.185139	T	0.29749	0.0743	N	0.00637	-1.305	0.31948	N	0.610021	B	0.02656	0.0	B	0.04013	0.001	T	0.24977	-1.0145	10	0.08179	T	0.78	.	3.4285	0.07420	0.1399:0.5778:0.1353:0.1471	.	120	P49146	NPY2R_HUMAN	S	120	ENSP00000332591:P120S;ENSP00000426366:P120S	ENSP00000332591:P120S	P	+	1	0	NPY2R	156354899	0.018000	0.18449	0.795000	0.32087	0.502000	0.33828	1.493000	0.35605	0.337000	0.23665	-0.163000	0.13421	CCT	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365128.1		+	ENST00000329476.3	Missense_Mutation	SNP	4 : 156135449 - 156135449 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	319	44
VCAN	1462	broad.mit.edu	37	5	82835411	82835411	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82835411C>A	ENST00000265077.3	+	8	7154	c.6589C>A	c.(6589-6591)Cct>Act	p.P2197T	VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.P1210T|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2197	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CACAACTCTCCCTGAAGCTAC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	89	89			NA	NA	5		NA											NA				82835411		2203	4300	6503	SO:0001583	missense			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427	1462	1462		Immunoglobulin superfamily / V-set domain containing, Proteoglycans / Extracellular Matrix : Hyalectans	2464	protein-coding gene	gene with protein product	versican proteoglycan	118661	chondroitin sulfate proteoglycan 2	CSPG2	NA	1478664, 21063030	Standard	NM_004385	NM_004385	NA	Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.6589C>A	5.37:g.82835411C>A	ENSP00000265077:p.Pro2197Thr	NA	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.553069	0.45487	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.84442	-1.83;-1.85;3.29	5.46	3.41	0.39046	.	0.454272	0.20652	N	0.088197	T	0.77824	0.4188	M	0.62723	1.935	0.09310	N	0.999999	P;B	0.34864	0.473;0.307	B;B	0.27887	0.084;0.051	T	0.70081	-0.4970	10	0.46703	T	0.11	.	5.0923	0.14715	0.2257:0.586:0.1064:0.0819	.	1210;2197	P13611-2;P13611	.;CSPG2_HUMAN	T	2197;1210;1210	ENSP00000265077:P2197T;ENSP00000340062:P1210T;ENSP00000426251:P1210T	ENSP00000265077:P2197T	P	+	1	0	VCAN	82871167	0.003000	0.15002	0.059000	0.19551	0.372000	0.29890	0.710000	0.25748	1.450000	0.47717	0.655000	0.94253	CCT	VCAN-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254092.3		+	ENST00000265077.3	Missense_Mutation	SNP	5 : 82835411 - 82835411 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	526	96
MICAL3	57553	broad.mit.edu	37	22	18347481	18347481	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18347481C>A	ENST00000585038.1	-	22	3222	c.3161G>T	c.(3160-3162)gGc>gTc	p.G1054V	MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000429452.1_Missense_Mutation_p.G1054V|MICAL3_ENST00000383094.3_Intron|MICAL3_ENST00000441493.2_Intron|MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000207726.7_Intron			Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	0	Glu-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTCCGACAGGCCATAGAGAAA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	31	31			NA	NA	22		NA											NA				18347481		1568	3582	5150	SO:0001583	missense			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156	57553	57553			24694	protein-coding gene	gene with protein product		608882			NA	12110185	Standard		NM_015241	NA	Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000585038.1:c.3161G>T	22.37:g.18347481C>A	ENSP00000462033:p.Gly1054Val	NA	E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	37	CCDS46661.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.148315	0.37923	.	.	ENSG00000093100	ENST00000429452	T	0.63744	-0.06	5.81	3.64	0.41730	.	.	.	.	.	T	0.44244	0.1284	.	.	.	0.40706	D	0.982522	B	0.02656	0.0	B	0.04013	0.001	T	0.33189	-0.9878	8	0.24483	T	0.36	.	8.1154	0.30940	0.345:0.5404:0.1147:0.0	.	1054	B2RXJ5	.	V	1054	ENSP00000414846:G1054V	ENSP00000414846:G1054V	G	-	2	0	XXbac-B461K10.4	16727481	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.589000	0.46145	2.738000	0.93877	0.655000	0.94253	GGC	MICAL3-012	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447359.1		-	ENST00000585038.1	Missense_Mutation	SNP	22 : 18347481 - 18347481 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	110	8
POTEH	23784	broad.mit.edu	37	22	16287519	16287519	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:16287519G>T	ENST00000343518.6	-	1	418	c.367C>A	c.(367-369)Cac>Aac	p.H123N		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	123								p.H123D(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GAGTCGTCGTGGTCTCCAGAA	0.602		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)											80	92	88			NA	NA	22		NA											NA				16287519		2048	3880	5928	SO:0001583	missense			AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062	23784	23784		POTE ankyrin domain containing, Ankyrin repeat domain containing	133	protein-coding gene	gene with protein product	cancer/testis antigen family 104, member 7	608913	actin, beta-like 1, ANKRD26-like family C, member 3	ACTBL1, A26C3	NA	10591208, 15276201, 21439273	Standard	NM_001136213	NM_001136213	NA	Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.367C>A	22.37:g.16287519G>T	ENSP00000340610:p.His123Asn	NA	A2CEK4|A6NCI1|A9Z1W0	37	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	5.629	0.300766	0.10678	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.26957	1.7	.	.	.	.	.	.	.	.	T	0.13072	0.0317	N	0.22421	0.69	0.09310	N	1	P	0.35328	0.495	B	0.27608	0.081	T	0.16482	-1.0401	7	0.42905	T	0.14	.	.	.	.	.	123	Q6S545	POTEH_HUMAN	N	86;123;123	ENSP00000340610:H123N	ENSP00000340610:H123N	H	-	1	0	POTEH	14667519	0.000000	0.05858	0.008000	0.14137	0.009000	0.06853	-1.783000	0.01770	0.269000	0.21961	0.274000	0.19336	CAC	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276918.4		-	ENST00000343518.6	Missense_Mutation	SNP	22 : 16287519 - 16287519 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2442	316
GBP2	2634	broad.mit.edu	37	1	89575855	89575855	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89575855G>A	ENST00000370466.3	-	9	1725	c.1457C>T	c.(1456-1458)gCg>gTg	p.A486V		NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	486					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		ACCTTCAATCGCTTTTTCCTT	0.413		NA											G	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	2e-04	NA	NA	NA	4e-04	0.95	EXOME	NA	NA	4e-04	SNP								NA				0													197	177	184			NA	NA	1		NA											NA				89575855		2203	4300	6503	SO:0001583	missense			BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645	2634	2634			4183	protein-coding gene	gene with protein product		600412			NA	1715024	Standard	NM_004120	NM_004120	NA	Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.1457C>T	1.37:g.89575855G>A	ENSP00000359497:p.Ala486Val	NA	Q6GPH0|Q6IAU2|Q86TB0	37	CCDS719.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	15.77	2.932109	0.52866	.	.	ENSG00000162645	ENST00000370466	T	0.02216	4.39	3.85	2.72	0.32119	Guanylate-binding protein, C-terminal (3);	4.217600	0.02050	U	0.049988	T	0.01627	0.0052	M	0.65677	2.01	0.22858	N	0.998644	B	0.27351	0.176	B	0.29942	0.109	T	0.46884	-0.9159	10	0.54805	T	0.06	-6.9689	8.6466	0.34009	0.0:0.0:0.2062:0.7938	.	486	P32456	GBP2_HUMAN	V	486	ENSP00000359497:A486V	ENSP00000359497:A486V	A	-	2	0	GBP2	89348443	0.002000	0.14202	0.423000	0.26634	0.601000	0.36947	0.741000	0.26202	0.634000	0.30469	-0.271000	0.10264	GCG	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029406.2		-	ENST00000370466.3	Missense_Mutation	SNP	1 : 89575855 - 89575855 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	533	56
UHRF1BP1L	23074	broad.mit.edu	37	12	100444940	100444940	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100444940C>T	ENST00000279907.7	-	16	3696	c.3484G>A	c.(3484-3486)Gca>Aca	p.A1162T	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.A812T	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1162										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TGTAGGTTTGCACCAGCATTC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	121	124			NA	NA	12		NA											NA				100444940		2203	4300	6503	SO:0001583	missense				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647	23074	23074			29102	protein-coding gene	gene with protein product					NA		Standard	NM_001006947	XM_005268737	NA	Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.3484G>A	12.37:g.100444940C>T	ENSP00000279907:p.Ala1162Thr	NA	A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	37	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	C	4.792	0.147265	0.09134	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.09630	2.96;2.96	5.03	1.85	0.25348	.	1.509740	0.03722	N	0.252075	T	0.10895	0.0266	L	0.47716	1.5	0.09310	N	0.999999	B	0.18863	0.031	B	0.18263	0.021	T	0.38693	-0.9649	10	0.16420	T	0.52	-0.7108	5.7213	0.17988	0.1524:0.6682:0.0:0.1793	.	1162	A0JNW5	UH1BL_HUMAN	T	1162;812	ENSP00000279907:A1162T;ENSP00000444824:A812T	ENSP00000279907:A1162T	A	-	1	0	UHRF1BP1L	98969071	0.030000	0.19436	0.011000	0.14972	0.009000	0.06853	1.106000	0.31098	0.457000	0.26962	-0.355000	0.07637	GCA	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407875.1		-	ENST00000279907.7	Missense_Mutation	SNP	12 : 100444940 - 100444940 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	441	96
GPRC5B	51704	broad.mit.edu	37	16	19883239	19883239	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19883239G>A	ENST00000300571.2	-	2	1120	c.929C>T	c.(928-930)aCg>aTg	p.T310M	GPRC5B_ENST00000569479.1_Missense_Mutation_p.T310M|GPRC5B_ENST00000537135.1_Missense_Mutation_p.T336M|GPRC5B_ENST00000569847.1_Missense_Mutation_p.T310M|GPRC5B_ENST00000535671.1_Missense_Mutation_p.T310M	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	310										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GGGCTGCGACGTGTCGAAGTA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	75	78			NA	NA	16		NA											NA				19883239		2197	4300	6497	SO:0001583	missense			AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191	NA	51704		GPCR / Class C : Orphans	13308	protein-coding gene	gene with protein product		605948	G protein-coupled receptor, family C, group 1, member B, G protein-coupled receptor, family C, group 5, member B		NA	10493829, 10783259	Standard		XM_005255357	NA	Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.929C>T	16.37:g.19883239G>A	ENSP00000300571:p.Thr310Met	NA	O75205|Q8NBZ8	37	CCDS10581.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327035	0.81690	.	.	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	T;T;T	0.29917	1.57;1.56;1.55	5.18	5.18	0.71444	.	0.056857	0.64402	D	0.000001	T	0.50667	0.1629	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.83275	0.877;0.996	T	0.35773	-0.9775	9	.	.	.	.	17.8587	0.88775	0.0:0.0:1.0:0.0	.	336;310	B7Z831;Q9NZH0	.;GPC5B_HUMAN	M	310;310;159;336	ENSP00000300571:T310M;ENSP00000442858:T310M;ENSP00000441775:T336M	.	T	-	2	0	GPRC5B	19790740	1.000000	0.71417	0.956000	0.39512	0.981000	0.71138	7.371000	0.79600	2.688000	0.91661	0.655000	0.94253	ACG	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254285.1		-	ENST00000300571.2	Missense_Mutation	SNP	16 : 19883239 - 19883239 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	491	101
CLCNKA	1187	broad.mit.edu	37	1	16351370	16351370	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16351370C>A	ENST00000375692.1	+	5	470	c.342C>A	c.(340-342)atC>atA	p.I114I	CLCNKA_ENST00000439316.2_Intron|CLCNKA_ENST00000420078.1_Silent_p.I114I|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000331433.4_Silent_p.I114I			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	114					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CCCAGAGCATCACGCCCTCCT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	95	105			NA	NA	1		NA											NA				16351370		2203	4300	6503	SO:0001819	synonymous_variant				CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510	NA	1187		Ion channels / Chloride channels : Voltage-sensitive	2026	protein-coding gene	gene with protein product		602024	chloride channel Ka		NA	8544406	Standard		NM_004070	NA	Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000375692.1:c.342C>A	1.37:g.16351370C>A		NA	Q5T5P8|Q7Z6D1|Q86VT1	37	CCDS41269.1																																																																																			CLCNKA-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026327.1		+	ENST00000375692.1	Silent	SNP	1 : 16351370 - 16351370 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	348	23
PRDM9	56979	broad.mit.edu	37	5	23522454	23522454	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:23522454C>T	ENST00000296682.3	+	7	732	c.550C>T	c.(550-552)Cga>Tga	p.R184*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	184					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GTATAGCCTGCGAGAAAGAAA	0.458		NA								HNSCC(3;0.000094)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	168	166			NA	NA	5		NA											NA				23522454		1932	4156	6088	SO:0001587	stop_gained			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256	56979	56979		-, Zinc fingers, C2H2-type	13994	protein-coding gene	gene with protein product	PR-domain containing protein 9	609760	minisatellite binding protein 3, 115kDa, minisatellite binding protein 3 (115kD)	MSBP3	NA	10668202, 2062643, 24634223	Standard	NM_020227	NM_020227	NA	Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.550C>T	5.37:g.23522454C>T	ENSP00000296682:p.Arg184*	NA	B4DX22|Q27Q50	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	c	18.03	3.532190	0.64972	.	.	ENSG00000164256	ENST00000296682	.	.	.	3.63	-6.01	0.02199	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.7103	13.4028	0.60893	0.8164:0.1836:0.0:0.0	.	.	.	.	X	184	.	ENSP00000296682:R184X	R	+	1	2	PRDM9	23558211	0.469000	0.25846	0.005000	0.12908	0.006000	0.05464	-0.309000	0.08145	-0.881000	0.03992	-1.580000	0.00857	CGA	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366375.1		+	ENST00000296682.3	Nonsense_Mutation	SNP	5 : 23522454 - 23522454 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	956	151
AEBP2	121536	broad.mit.edu	37	12	19671045	19671045	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:19671045G>A	ENST00000266508.9	+	8	1507	c.1506G>A	c.(1504-1506)aaG>aaA	p.K502K	AEBP2_ENST00000360995.4_Silent_p.K286K|AEBP2_ENST00000541908.1_Silent_p.K273K|AEBP2_ENST00000398864.3_Silent_p.K502K	NM_153207.4	NP_694939.2	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	502	Interaction with SUZ12.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					AGAGGTTGAAGAGGTAAAAAA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	28	29			NA	NA	12		NA											NA				19671045		1802	4078	5880	SO:0001819	synonymous_variant				CCDS44841.1, CCDS44842.1, CCDS58215.1	12p12.3	2012-10-02			ENSG00000139154	ENSG00000139154	121536	121536			24051	protein-coding gene	gene with protein product					NA	10329662	Standard	NM_153207	NM_153207	NA	Approved	MGC17922	uc001ref.2	Q6ZN18	OTTHUMG00000168906	ENST00000266508.9:c.1506G>A	12.37:g.19671045G>A		NA	Q59FS5|Q6ZN62|Q96BG3	37	CCDS44842.1																																																																																			AEBP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401577.1		+	ENST00000266508.9	Silent	SNP	12 : 19671045 - 19671045 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	67	8
WWC1	23286	broad.mit.edu	37	5	167850797	167850797	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167850797G>A	ENST00000265293.4	+	11	2036	c.1534G>A	c.(1534-1536)Gca>Aca	p.A512T	WWC1_ENST00000521089.1_Missense_Mutation_p.A512T	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	512					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GACCCAGAAGGCAGAGGGAGG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	57	62			NA	NA	5		NA											NA				167850797		2203	4300	6503	SO:0001583	missense			AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645	23286	23286		WW, C2 and coiled-coil domain containing	29435	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 168	610533	WW, C2 and coiled-coil domain containing 1		NA	10048485, 12559952	Standard	NM_015238	NM_001161661	NA	Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.1534G>A	5.37:g.167850797G>A	ENSP00000265293:p.Ala512Thr	NA	O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	37	CCDS4366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.707|0.707	-0.788550|-0.788550	0.02884|0.02884	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000265293;ENST00000521089|ENST00000393895;ENST00000524228	T;T|.	0.39229|.	1.09;1.09|.	5.22|5.22	2.48|2.48	0.30137|0.30137	.|.	0.522413|.	0.20287|.	N|.	0.095337|.	T|T	0.15912|0.15912	0.0383|0.0383	N|N	0.04043|0.04043	-0.29|-0.29	0.20403|0.20403	N|N	0.999901|0.999901	B;B;B;B|.	0.06786|.	0.001;0.001;0.001;0.001|.	B;B;B;B|.	0.12156|.	0.001;0.007;0.007;0.002|.	T|T	0.26710|0.26710	-1.0095|-1.0095	10|5	0.07990|.	T|.	0.79|.	.|.	7.9508|7.9508	0.30014|0.30014	0.4403:0.0:0.5597:0.0|0.4403:0.0:0.5597:0.0	.|.	512;418;418;512|.	Q8IX03-2;F5H498;B3KX05;Q8IX03|.	.;.;.;KIBRA_HUMAN|.	T|D	512|473;288	ENSP00000265293:A512T;ENSP00000427772:A512T|.	ENSP00000265293:A512T|.	A|G	+|+	1|2	0|0	WWC1|WWC1	167783375|167783375	0.966000|0.966000	0.33281|0.33281	0.439000|0.439000	0.26833|0.26833	0.013000|0.013000	0.08279|0.08279	1.428000|1.428000	0.34892|0.34892	0.605000|0.605000	0.29947|0.29947	0.655000|0.655000	0.94253|0.94253	GCA|GGC	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252791.2		+	ENST00000265293.4	Missense_Mutation	SNP	5 : 167850797 - 167850797 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	343	55
CDC42BPG	55561	broad.mit.edu	37	11	64606559	64606559	+	Silent	SNP	C	C	T	rs56393929		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64606559C>T	ENST00000342711.5	-	7	821	c.822G>A	c.(820-822)acG>acA	p.T274T		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	274	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CATAGAAGGGCGTCTCCCCAA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	97	100			NA	NA	11		NA											NA				64606559		2201	4297	6498	SO:0001819	synonymous_variant			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219	55561	55561		Pleckstrin homology (PH) domain containing	29829	protein-coding gene	gene with protein product		613991			NA	9341881, 15194684	Standard	XM_290516	NM_017525	NA	Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.822G>A	11.37:g.64606559C>T		NA	O00565	37	CCDS31601.1																																																																																			CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000105352.4		-	ENST00000342711.5	Silent	SNP	11 : 64606559 - 64606559 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	499	91
DNAAF1	123872	broad.mit.edu	37	16	84199527	84199527	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84199527G>A	ENST00000378553.5	+	7	1126	c.1002G>A	c.(1000-1002)agG>agA	p.R334R	DNAAF1_ENST00000563818.1_3'UTR|DNAAF1_ENST00000334315.5_Silent_p.R334R	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	334					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						CAGAGGAGAGGAAAAGACAGA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	147	151			NA	NA	16		NA											NA				84199527		2200	4300	6500	SO:0001819	synonymous_variant			BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099	123872	123872			30539	protein-coding gene	gene with protein product	outer row dynein assembly 7 homolog (Chlamydomonas)	613190	leucine rich repeat containing 50	LRRC50	NA	19944405	Standard	NM_178452	NM_178452	NA	Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.1002G>A	16.37:g.84199527G>A		NA	B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	37	CCDS10943.2																																																																																			DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250328.3		+	ENST00000378553.5	Silent	SNP	16 : 84199527 - 84199527 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	925	205
NGF	4803	broad.mit.edu	37	1	115829086	115829086	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115829086C>T	ENST00000369512.2	-	3	499	c.331G>A	c.(331-333)Gcc>Acc	p.A111T	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	111					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TTGAAGGGGGCAGCACCACCG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	46	48			NA	NA	1		NA											NA				115829086		2203	4300	6503	SO:0001583	missense				CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259	4803	4803		Endogenous ligands	7808	protein-coding gene	gene with protein product		162030		NGFB	NA		Standard	NM_002506	XM_006710663	NA	Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.331G>A	1.37:g.115829086C>T	ENSP00000358525:p.Ala111Thr	NA	A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	37	CCDS882.1	.	.	.	.	.	.	.	.	.	.	C	5.594	0.294351	0.10567	.	.	ENSG00000134259	ENST00000369512	T	0.62232	0.04	5.27	-1.42	0.08913	.	1.018970	0.07813	N	0.958416	T	0.12860	0.0312	N	0.02916	-0.46	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.16482	-1.0401	10	0.33141	T	0.24	-7.1349	4.6352	0.12521	0.4107:0.3844:0.0:0.2049	.	111	P01138	NGF_HUMAN	T	111	ENSP00000358525:A111T	ENSP00000358525:A111T	A	-	1	0	NGF	115630609	0.000000	0.05858	0.000000	0.03702	0.117000	0.20001	0.400000	0.20932	-0.171000	0.10797	0.467000	0.42956	GCC	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032832.1		-	ENST00000369512.2	Missense_Mutation	SNP	1 : 115829086 - 115829086 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	206	46
THBD	7056	broad.mit.edu	37	20	23028930	23028930	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23028930G>T	ENST00000377103.2	-	1	1448	c.1212C>A	c.(1210-1212)tgC>tgA	p.C404*		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	404	EGF-like 4.|EGF-like 5.				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	AAAACATCTGGCACCTGTGCG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	55	55			NA	NA	20		NA											NA				23028930		2203	4300	6503	SO:0001587	stop_gained				CCDS13148.1	20p11.21	2014-09-17			ENSG00000178726	ENSG00000178726	7056	7056		CD molecules	11784	protein-coding gene	gene with protein product		188040			NA		Standard		NM_000361	NA	Approved	CD141	uc002wss.3	P07204	OTTHUMG00000032053	ENST00000377103.2:c.1212C>A	20.37:g.23028930G>T	ENSP00000366307:p.Cys404*	NA	Q8IV29|Q9UC32	37	CCDS13148.1	.	.	.	.	.	.	.	.	.	.	G	37	6.097120	0.97281	.	.	ENSG00000178726	ENST00000377103;ENST00000503590	.	.	.	4.82	0.672	0.17935	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.5519	10.665	0.45726	0.3007:0.0:0.6993:0.0	.	.	.	.	X	404;386	.	ENSP00000366307:C404X	C	-	3	2	THBD	22976930	0.014000	0.17966	0.743000	0.31040	0.578000	0.36192	0.062000	0.14389	-0.093000	0.12396	-1.134000	0.01955	TGC	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078307.2		-	ENST00000377103.2	Nonsense_Mutation	SNP	20 : 23028930 - 23028930 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	542	89
ADAMTS5	11096	broad.mit.edu	37	21	28302267	28302267	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:28302267G>A	ENST00000284987.5	-	7	2284	c.2163C>T	c.(2161-2163)tgC>tgT	p.C721C	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	721	Cys-rich.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CACATACTCCGCACTTGTCAT	0.443		NA											G	1	5e-04	NA	NA	2184	NA	0.9999	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.9181	EXOME	NA	NA	2e-04	SNP	Esophageal Squamous(53;683 1080 10100 14424 45938)							NA				0								G		0,4406		0,0,2203	211	188	196		2163	-3.7	0.8	21		196	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAMTS5	NM_007038.3		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		721/931	28302267	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736	11096	11096		ADAM metallopeptidases with thrombospondin type 1 motif	221	protein-coding gene	gene with protein product	aggrecanase-2	605007	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)		NA	10438522	Standard		NM_007038	NA	Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.2163C>T	21.37:g.28302267G>A		NA	Q52LV4|Q9UKP2	37	CCDS13579.1																																																																																			ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000171648.1		-	ENST00000284987.5	Silent	SNP	21 : 28302267 - 28302267 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	837	173
CHRNA3	1136	broad.mit.edu	37	15	78893898	78893898	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78893898G>A	ENST00000348639.3	-	5	1586	c.1086C>T	c.(1084-1086)aaC>aaT	p.N362N	CHRNA3_ENST00000326828.5_Silent_p.N362N	NM_001166694.1	NP_001160166.1	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	362					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGTTGCCCTCGTTGCTTGTTG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	0,4392		0,0,2196	100	91	94		1086,1086	-3.8	0	15		94	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous,coding-synonymous	CHRNA3	NM_000743.4,NM_001166694.1	,	0,1,6488	AA,AG,GG	NA	0.0116,0.0,0.0077	,	362/506,362/490	78893898	1,12977	2196	4293	6489	SO:0001819	synonymous_variant				CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644	NA	1136		Cholinergic receptors, Ligand-gated ion channels / Acetylcholine receptors, nicotinic	1957	protein-coding gene	gene with protein product	acetylcholine receptor, nicotinic, alpha 3 (neuronal)	118503	cholinergic receptor, nicotinic, alpha polypeptide 3		NA	2004777	Standard		NM_000743	NA	Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000348639.3:c.1086C>T	15.37:g.78893898G>A		NA	Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	37	CCDS53964.1																																																																																			CHRNA3-002	KNOWN	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000290112.2		-	ENST00000348639.3	Silent	SNP	15 : 78893898 - 78893898 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	475	85
SETD2	29072	broad.mit.edu	37	3	47164368	47164368	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47164368A>C	ENST00000409792.3	-	3	1800	c.1758T>G	c.(1756-1758)caT>caG	p.H586Q		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	586					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AACTAAAAGAATGAGACTGTT	0.323		NA	N, F, S, Mis		clear cell renal carcinoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													46	52	50			NA	NA	3		NA											NA				47164368		2195	4293	6488	SO:0001583	missense			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555	29072	29072		Chromatin-modifying enzymes / K-methyltransferases	18420	protein-coding gene	gene with protein product		612778			NA	16118227, 11461154	Standard	NM_014159	NM_014159	NA	Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.1758T>G	3.37:g.47164368A>C	ENSP00000386759:p.His586Gln	NA	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	A	12.40	1.925895	0.34002	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.88201	-2.35;1.5	5.43	5.43	0.79202	.	0.105088	0.42548	D	0.000693	T	0.81422	0.4819	N	0.19112	0.55	0.36693	D	0.879687	P;P	0.42827	0.791;0.791	B;B	0.37650	0.255;0.255	D	0.86994	0.2112	10	0.87932	D	0	.	14.2096	0.65755	1.0:0.0:0.0:0.0	.	586;586	F2Z317;Q9BYW2	.;SETD2_HUMAN	Q	586;586;586;542	ENSP00000386759:H586Q;ENSP00000416401:H542Q	ENSP00000386759:H586Q	H	-	3	2	SETD2	47139372	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.058000	0.49939	2.277000	0.76020	0.528000	0.53228	CAT	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257479.2		-	ENST00000409792.3	Missense_Mutation	SNP	3 : 47164368 - 47164368 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	70
NAV1	89796	broad.mit.edu	37	1	201752962	201752962	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201752962G>T	ENST00000367302.1	+	9	3059	c.2825G>T	c.(2824-2826)aGa>aTa	p.R942I	NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000295624.6_Missense_Mutation_p.R929I|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Missense_Mutation_p.R929I|NAV1_ENST00000367297.4_Missense_Mutation_p.R929I|NAV1_ENST00000367295.1_Missense_Mutation_p.R538I|NAV1_ENST00000367296.4_Missense_Mutation_p.R929I			Q8NEY1	NAV1_HUMAN	neuron navigator 1	929					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GGAAGCCCCAGAGCTGGGCAA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	45	43			NA	NA	1		NA											NA				201752962		2203	4300	6503	SO:0001583	missense			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369	89796	89796			15989	protein-coding gene	gene with protein product	neuron navigator-1, pore membrane and/or filament interacting like protein 3	611628			NA	12079279, 12062803	Standard	NM_020443	NM_020443	NA	Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367302.1:c.2825G>T	1.37:g.201752962G>T	ENSP00000356271:p.Arg942Ile	NA	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.93|17.93	3.510195|3.510195	0.64522|0.64522	.|.	.|.	ENSG00000134369|ENSG00000134369	ENST00000430015|ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000391966;ENST00000367295	.|T;T;T;T;T;T	.|0.08458	.|3.09;3.11;3.11;3.11;3.09;3.11	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	.|0.162145	.|0.50627	.|D	.|0.000111	T|T	0.24160|0.24160	0.0585|0.0585	L|L	0.47190|0.47190	1.495|1.495	0.52099|0.52099	D|D	0.999944|0.999944	.|P;P;P;D;P	.|0.71674	.|0.806;0.804;0.558;0.998;0.804	.|B;B;B;D;B	.|0.76575	.|0.312;0.324;0.12;0.988;0.324	T|T	0.00129|0.00129	-1.2016|-1.2016	5|10	.|0.87932	.|D	.|0	-26.312|-26.312	17.2444|17.2444	0.87023|0.87023	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|929;538;929;437;929	.|Q8NEY1-6;Q8NEY1-5;Q8NEY1;A8MYI2;Q8NEY1-3	.|.;.;NAV1_HUMAN;.;.	H|I	486|942;929;929;929;929;437;538	.|ENSP00000356271:R942I;ENSP00000356265:R929I;ENSP00000295624:R929I;ENSP00000356266:R929I;ENSP00000356269:R929I;ENSP00000356264:R538I	.|ENSP00000295624:R929I	Q|R	+|+	3|2	2|0	NAV1|NAV1	200019585|200019585	1.000000|1.000000	0.71417|0.71417	0.917000|0.917000	0.36280|0.36280	0.905000|0.905000	0.53344|0.53344	5.349000|5.349000	0.66010|0.66010	2.596000|2.596000	0.87737|0.87737	0.460000|0.460000	0.39030|0.39030	CAG|AGA	NAV1-006	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000087018.1		+	ENST00000367302.1	Missense_Mutation	SNP	1 : 201752962 - 201752962 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	463	100
KIF20B	9585	broad.mit.edu	37	10	91469201	91469201	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91469201A>C	ENST00000371728.3	+	4	399	c.334A>C	c.(334-336)Aaa>Caa	p.K112Q	KIF20B_ENST00000416354.1_Missense_Mutation_p.K112Q|KIF20B_ENST00000394289.2_Missense_Mutation_p.K112Q|KIF20B_ENST00000260753.4_Missense_Mutation_p.K112Q	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	112	Kinesin-motor.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GATGGCACAGAAATTCAGTTT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	85	86			NA	NA	10		NA											NA				91469201		2203	4300	6503	SO:0001583	missense			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182	9585	9585			7212	protein-coding gene	gene with protein product	cancer/testis antigen 90	605498	M-phase phosphoprotein 1	MPHOSPH1	NA	8885239, 8290587, 11470801	Standard	NM_016195	NM_016195	NA	Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.334A>C	10.37:g.91469201A>C	ENSP00000360793:p.Lys112Gln	NA	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	37		.	.	.	.	.	.	.	.	.	.	A	21.0	4.077178	0.76415	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728;ENST00000439656;ENST00000447580	T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91	5.26	5.26	0.73747	Kinesin, motor domain (4);	0.000000	0.51477	D	0.000097	T	0.73125	0.3547	N	0.20766	0.605	0.35744	D	0.818899	P;B	0.42941	0.794;0.03	P;B	0.54372	0.75;0.049	T	0.78295	-0.2259	10	0.35671	T	0.21	-16.5905	15.4672	0.75409	1.0:0.0:0.0:0.0	.	112;112	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	Q	112	ENSP00000260753:K112Q;ENSP00000411545:K112Q;ENSP00000377830:K112Q;ENSP00000360793:K112Q;ENSP00000390946:K112Q	ENSP00000260753:K112Q	K	+	1	0	KIF20B	91459181	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.718000	0.68455	2.104000	0.64026	0.533000	0.62120	AAA	KIF20B-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000049330.1		+	ENST00000371728.3	Missense_Mutation	SNP	10 : 91469201 - 91469201 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	691	129
MCTP2	55784	broad.mit.edu	37	15	94841523	94841523	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:94841523G>A	ENST00000357742.4	+	1	29	c.29G>A	c.(28-30)gGc>gAc	p.G10D	MCTP2_ENST00000543482.1_Missense_Mutation_p.G10D|MCTP2_ENST00000451018.3_Missense_Mutation_p.G10D|MCTP2_ENST00000331706.4_5'UTR	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	10					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TCTGTTTGGGGCTCATTAAAA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	97	96			NA	NA	15		NA											NA				94841523		2197	4298	6495	SO:0001583	missense			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563	55784	55784			25636	protein-coding gene	gene with protein product					NA	15528213	Standard	NM_018349	NM_018349	NA	Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.29G>A	15.37:g.94841523G>A	ENSP00000350377:p.Gly10Asp	NA	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	37	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025205	0.35701	.	.	ENSG00000140563	ENST00000543482;ENST00000556363;ENST00000451018;ENST00000357742	T;T;T	0.74947	-0.89;-0.63;-0.48	5.02	2.11	0.27256	.	0.000000	0.53938	D	0.000051	T	0.62998	0.2474	N	0.19112	0.55	0.80722	D	1	P;B;B;P;P	0.46327	0.587;0.412;0.289;0.803;0.876	B;B;B;B;P	0.48166	0.245;0.137;0.065;0.249;0.569	T	0.58092	-0.7697	10	0.42905	T	0.14	.	8.3384	0.32228	0.3112:0.0:0.6888:0.0	.	10;10;10;10;10	F5H415;Q6DN12-2;Q6DN12;B7Z6H2;G3V2J2	.;.;MCTP2_HUMAN;.;.	D	10	ENSP00000438521:G10D;ENSP00000395109:G10D;ENSP00000350377:G10D	ENSP00000350377:G10D	G	+	2	0	MCTP2	92642527	0.999000	0.42202	0.589000	0.28718	0.452000	0.32318	2.963000	0.49184	0.170000	0.19704	0.655000	0.94253	GGC	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415060.3		+	ENST00000357742.4	Missense_Mutation	SNP	15 : 94841523 - 94841523 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	626	117
MGA	23269	broad.mit.edu	37	15	41962075	41962075	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41962075T>C	ENST00000570161.1	+	1	983	c.983T>C	c.(982-984)aTa>aCa	p.I328T	MGA_ENST00000566586.1_Missense_Mutation_p.I328T|MGA_ENST00000389936.4_Missense_Mutation_p.I328T|MGA_ENST00000545763.1_Missense_Mutation_p.I328T|MGA_ENST00000568630.1_Intron|MGA_ENST00000219905.7_Missense_Mutation_p.I328T			Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	328						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TCCCTTAATATAAAACGAGAC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	51	52			NA	NA	15		NA											NA				41962075		1863	4091	5954	SO:0001583	missense			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197	23269	23269		MAX dimerization proteins, T-boxes	14010	protein-coding gene	gene with protein product			MAX gene associated		NA		Standard	NM_001164273.1	NM_001080541	NA	Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.983T>C	15.37:g.41962075T>C	ENSP00000457035:p.Ile328Thr	NA	Q9H8R3|Q9H9N7|Q9UG69|Q9Y4E9	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	T	7.224	0.597876	0.13939	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.83506	-1.73;-1.73;-1.73	5.62	2.93	0.34026	.	1.281880	0.04560	N	0.391515	T	0.71117	0.3302	N	0.22421	0.69	0.22240	N	0.999264	B;B	0.09022	0.002;0.001	B;B	0.12837	0.008;0.003	T	0.56565	-0.7958	10	0.33141	T	0.24	.	2.3255	0.04222	0.0:0.2529:0.2946:0.4525	.	328;328	F5H7K2;E7ENI0	.;.	T	328	ENSP00000219905:I328T;ENSP00000374586:I328T;ENSP00000442467:I328T	ENSP00000219905:I328T	I	+	2	0	MGA	39749367	1.000000	0.71417	0.944000	0.38274	0.946000	0.59487	2.270000	0.43355	1.018000	0.39521	0.383000	0.25322	ATA	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000420229.1		+	ENST00000570161.1	Missense_Mutation	SNP	15 : 41962075 - 41962075 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	183	33
TRPV2	51393	broad.mit.edu	37	17	16330160	16330160	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16330160C>T	ENST00000338560.7	+	7	1619	c.1220C>T	c.(1219-1221)gCt>gTt	p.A407V	TRPV2_ENST00000577397.1_Intron	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	407					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ATCTTCACCGCTGTTGCCTAC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	85	94			NA	NA	17		NA											NA				16330160		2203	4300	6503	SO:0001583	missense			AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688	51393	51393		Voltage-gated ion channels / Transient receptor potential cation channels, Ankyrin repeat domain containing	18082	protein-coding gene	gene with protein product		606676			NA	10201375, 16382100	Standard	NM_016113	NM_016113	NA	Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.1220C>T	17.37:g.16330160C>T	ENSP00000342222:p.Ala407Val	NA	A6NML2|A8K0Z0|Q9Y670	37	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.283833	0.23392	.	.	ENSG00000187688	ENST00000338560	D	0.88431	-2.38	5.78	4.58	0.56647	.	0.461480	0.25964	N	0.027178	T	0.76485	0.3994	N	0.12831	0.26	0.09310	N	0.999993	B	0.06786	0.001	B	0.10450	0.005	T	0.60667	-0.7218	10	0.20046	T	0.44	-28.5902	8.3753	0.32440	0.0:0.7901:0.0:0.2099	.	407	Q9Y5S1	TRPV2_HUMAN	V	407	ENSP00000342222:A407V	ENSP00000342222:A407V	A	+	2	0	TRPV2	16270885	0.000000	0.05858	0.001000	0.08648	0.582000	0.36321	0.516000	0.22817	1.105000	0.41606	0.557000	0.71058	GCT	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130464.2		+	ENST00000338560.7	Missense_Mutation	SNP	17 : 16330160 - 16330160 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	64
ADCK1	57143	broad.mit.edu	37	14	78365490	78365490	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78365490G>A	ENST00000238561.5	+	6	729	c.630G>A	c.(628-630)atG>atA	p.M210I	ADCK1_ENST00000341211.5_Missense_Mutation_p.M142I	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	217	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		TTGAGTTTATGTGGCTTGTGG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	155	163			NA	NA	14		NA											NA				78365490		2203	4300	6503	SO:0001583	missense			AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30					57143	57143			19038	protein-coding gene	gene with protein product					NA	12471243	Standard	NM_020421	NM_020421	NA	Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.630G>A	14.37:g.78365490G>A	ENSP00000238561:p.Met210Ile	NA	Q6PD65	37	CCDS9869.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553053	0.45487	.	.	ENSG00000063761	ENST00000238561;ENST00000557501;ENST00000341211	T;T;T	0.54071	0.59;0.59;0.59	5.53	3.64	0.41730	.	0.118251	0.85682	N	0.000000	T	0.40791	0.1131	L	0.31294	0.92	0.80722	D	1	B;B	0.23806	0.091;0.05	B;B	0.29663	0.105;0.037	T	0.27773	-1.0064	10	0.36615	T	0.2	-51.955	10.9727	0.47448	0.0702:0.13:0.7999:0.0	.	142;210	Q9UIE6;Q86TW2-2	.;.	I	210;210;142	ENSP00000238561:M210I;ENSP00000451549:M210I;ENSP00000339663:M142I	ENSP00000238561:M210I	M	+	3	0	ADCK1	77435243	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.677000	0.74503	1.335000	0.45486	0.591000	0.81541	ATG	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413864.1		+	ENST00000238561.5	Missense_Mutation	SNP	14 : 78365490 - 78365490 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	713	136
JSRP1	126306	broad.mit.edu	37	19	2255205	2255205	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2255205C>A	ENST00000300961.6	-	2	173	c.109G>T	c.(109-111)Gcg>Tcg	p.A37S	JSRP1_ENST00000586471.2_Splice_Site_p.A37S	NM_144616.3	NP_653217.1	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	NA	Mediates interaction with CACNA1S (By similarity).					sarcoplasmic reticulum membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				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)		ACAAGGGTACCTGAAGCCCTG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	40	39			NA	NA	19		NA											NA				2255205		2200	4298	6498	SO:0001630	splice_region_variant			AK056978	CCDS12086.1	19p13.3	2010-03-23			ENSG00000167476	ENSG00000167476	126306	126306			24963	protein-coding gene	gene with protein product	homolog of mouse skeletal muscle sarcoplasmic reticulum protein JP-45	608743			NA	12871958	Standard	NM_144616	NM_144616	NA	Approved	JP-45, FLJ32416	uc002lvj.2	Q96MG2		ENST00000300961.6:c.109+1G>T	19.37:g.2255205C>A		NA		37	CCDS12086.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393024	0.42410	.	.	ENSG00000167476	ENST00000300961	T	0.18657	2.2	3.63	3.63	0.41609	.	1.872170	0.03542	N	0.224035	T	0.16300	0.0392	N	0.24115	0.695	0.26197	N	0.979504	B	0.30281	0.275	B	0.22601	0.04	T	0.11641	-1.0579	9	.	.	.	.	10.9866	0.47526	0.0:1.0:0.0:0.0	.	37	Q96MG2	JSPR1_HUMAN	S	37	ENSP00000300961:A37S	.	A	-	1	0	JSRP1	2206205	0.992000	0.36948	0.300000	0.25030	0.278000	0.26855	3.501000	0.53325	2.022000	0.59522	0.561000	0.74099	GCG	JSRP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451266.2	Missense_Mutation	-	ENST00000300961.6	Splice_Site	SNP	19 : 2255205 - 2255205 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	172	27
DICER1	23405	broad.mit.edu	37	14	95582075	95582075	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95582075T>C	ENST00000526495.1	-	13	2127	c.1836A>G	c.(1834-1836)ccA>ccG	p.P612P	DICER1_ENST00000343455.3_Silent_p.P612P|DICER1_ENST00000541352.1_Silent_p.P612P|DICER1_ENST00000527414.1_Silent_p.P612P|DICER1_ENST00000393063.1_Silent_p.P612P			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	612					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ACACATATGGTGGGAAAACGT	0.428		NA	Mis F, N		sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	dicer 1, ribonuclease type III 		E, M, O	0													252	191	212			NA	NA	14		NA											NA				95582075		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697	23405	23405			17098	protein-coding gene	gene with protein product	dicer 1, double-stranded RNA-specific endoribonuclease	606241	Dicer1, Dcr-1 homolog (Drosophila), multinodular goitre 1	MNG1	NA	10051563, 10786632, 21205968	Standard		NM_177438	NA	Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.1836A>G	14.37:g.95582075T>C		NA	A7E2D3|O95943|Q9UQ02	37	CCDS9931.1																																																																																			DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387997.1		-	ENST00000526495.1	Silent	SNP	14 : 95582075 - 95582075 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	353	84
C12orf56	115749	broad.mit.edu	37	12	64664489	64664489	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64664489A>G	ENST00000543942.2	-	12	2216	c.1590T>C	c.(1588-1590)acT>acC	p.T530T	C12orf56_ENST00000536975.1_5'UTR|C12orf56_ENST00000333722.5_Silent_p.T370T|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	533										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		TGGCCACAAAAGTAATCTAGA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	67	69			NA	NA	12		NA											NA				64664489		1890	4129	6019	SO:0001819	synonymous_variant				CCDS44935.1, CCDS61182.1	12q14.2	2012-08-15			ENSG00000185306	ENSG00000185306	115749	115749			26967	protein-coding gene	gene with protein product					NA		Standard	NM_001099676	NM_001099676	NA	Approved		uc021qzu.1	Q8IXR9	OTTHUMG00000168782	ENST00000543942.2:c.1590T>C	12.37:g.64664489A>G		NA		37																																																																																				C12orf56-008	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000401058.2		-	ENST00000543942.2	Silent	SNP	12 : 64664489 - 64664489 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	231	45
EAPP	55837	broad.mit.edu	37	14	34985588	34985588	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:34985588A>G	ENST00000250454.3	-	6	867	c.786T>C	c.(784-786)tgT>tgC	p.C262C		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	262					negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		CTTCAGTGGAACATTCAGTGC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													206	199	202			NA	NA	14		NA											NA				34985588		1981	4160	6141	SO:0001819	synonymous_variant			AF217512	CCDS41941.1	14q13	2007-03-26	2007-03-26	2007-03-26		ENSG00000129518	55837	55837			19312	protein-coding gene	gene with protein product		609486	chromosome 14 open reading frame 11	C14orf11	NA	15716352	Standard	NM_018453	NM_018453	NA	Approved	BM036, FLJ20578	uc001wsd.1	Q56P03		ENST00000250454.3:c.786T>C	14.37:g.34985588A>G		NA	Q9BVF4|Q9NWV5|Q9NZ86	37	CCDS41941.1																																																																																			EAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409847.1		-	ENST00000250454.3	Silent	SNP	14 : 34985588 - 34985588 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	914	69
MESDC1	59274	broad.mit.edu	37	15	81294944	81294944	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81294944G>A	ENST00000267984.2	+	1	1650	c.332G>A	c.(331-333)aGc>aAc	p.S111N		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	111										endometrium(1)|lung(2)	3						GCGGGGGACAGCCTGGTGGAG	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	13	13			NA	NA	15		NA											NA				81294944		1995	3889	5884	SO:0001583	missense			AY007810	CCDS10316.1	15q13	2008-07-18			ENSG00000140406	ENSG00000140406	59274	59274			13519	protein-coding gene	gene with protein product		615466			NA	11247670	Standard	NM_022566	NM_022566	NA	Approved	MGC99595	uc002bfz.3	Q9H1K6	OTTHUMG00000144185	ENST00000267984.2:c.332G>A	15.37:g.81294944G>A	ENSP00000267984:p.Ser111Asn	NA		37	CCDS10316.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326163	0.41197	.	.	ENSG00000140406	ENST00000267984	T	0.08193	3.12	4.02	4.02	0.46733	.	0.146929	0.45606	U	0.000351	T	0.05318	0.0141	N	0.14661	0.345	0.44181	D	0.996998	B	0.25169	0.119	B	0.24155	0.051	T	0.33214	-0.9877	10	0.56958	D	0.05	-15.6875	8.6701	0.34145	0.0:0.165:0.6648:0.1702	.	111	Q9H1K6	MESD1_HUMAN	N	111	ENSP00000267984:S111N	ENSP00000267984:S111N	S	+	2	0	MESDC1	79081999	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.930000	0.70104	1.935000	0.56089	0.313000	0.20887	AGC	MESDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000291390.1		+	ENST00000267984.2	Missense_Mutation	SNP	15 : 81294944 - 81294944 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	141	20
ZHX1-C8ORF76	0	broad.mit.edu	37	8	124243660	124243660	+	Missense_Mutation	SNP	C	C	T	rs138956285		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124243660C>T	ENST00000357082.4	-	4	692	c.599G>A	c.(598-600)aGc>aAc	p.S200N	C8orf76_ENST00000276704.4_Missense_Mutation_p.S232N|C8orf76_ENST00000521310.1_5'UTR	NM_001204180.1	NP_001191109.1				NA											NA						GCTATTACTGCTATTCGCTTC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ASN/SER,ASN/SER	0,4406		0,0,2203	95	94	94		599,695	4.6	0	8	dbSNP_134	94	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	C8orf76,ZHX1-C8ORF76	NM_001204180.1,NM_032847.2	46,46	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign,benign	200/293,232/381	124243660	1,13005	2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000357082.4:c.599G>A	8.37:g.124243660C>T	ENSP00000349593:p.Ser200Asn	NA		37	CCDS56552.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006942	0.35415	0.0	1.16E-4	ENSG00000189376	ENST00000276704;ENST00000357082	.	.	.	5.48	4.59	0.56863	.	0.506912	0.22723	N	0.056434	T	0.37376	0.1001	L	0.59436	1.845	0.09310	N	1	B;B	0.21520	0.021;0.057	B;B	0.18871	0.023;0.023	T	0.32955	-0.9887	9	0.07175	T	0.84	1.0844	8.1557	0.31167	0.1584:0.7615:0.0:0.0801	.	200;232	Q96EF9;Q96K31	.;CH076_HUMAN	N	232;200	.	ENSP00000276704:S232N	S	-	2	0	C8orf76	124312841	0.000000	0.05858	0.003000	0.11579	0.057000	0.15508	0.535000	0.23114	1.298000	0.44778	0.655000	0.94253	AGC	ZHX1-C8ORF76-001	KNOWN	basic|appris_principal|readthrough_transcript|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381750.1		-	ENST00000357082.4	Missense_Mutation	SNP	8 : 124243660 - 124243660 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	507	90
CECR2	27443	broad.mit.edu	37	22	18021876	18021876	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18021876C>A	ENST00000400585.2	+	16	1993	c.1555C>A	c.(1555-1557)Ccc>Acc	p.P519T	CECR2_ENST00000400573.5_Missense_Mutation_p.P660T|CECR2_ENST00000262608.8_Missense_Mutation_p.P661T			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	702	Bromo.				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCTCCGAGGACCCAGGCTAGG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	THR/PRO	20,3952		0,20,1966	34	34	34		1978	4.2	0.9	22		34	1,8319		0,1,4159	yes	missense	CECR2	NM_031413.3	38	0,21,6125	AA,AC,CC	NA	0.012,0.5035,0.1708	benign	660/1443	18021876	21,12271	1986	4160	6146	SO:0001583	missense			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954	27443	27443			1840	protein-coding gene	gene with protein product		607576			NA	11381032	Standard	NM_031413	XM_006724077	NA	Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1555C>A	22.37:g.18021876C>A	ENSP00000383428:p.Pro519Thr	NA	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	37		.	.	.	.	.	.	.	.	.	.	C	10.40	1.338446	0.24253	0.005035	1.2E-4	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.25085	1.94;1.94;1.82	5.21	4.19	0.49359	.	0.247728	0.28706	N	0.014409	T	0.19765	0.0475	L	0.56769	1.78	0.33570	D	0.598544	B;B;B	0.10296	0.003;0.002;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.26189	-1.0110	10	0.45353	T	0.12	-11.8315	13.0016	0.58679	0.0:0.9212:0.0:0.0788	.	702;519;660	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	T	519;660;661	ENSP00000383428:P519T;ENSP00000383417:P660T;ENSP00000262608:P661T	ENSP00000262608:P661T	P	+	1	0	CECR2	16401876	0.981000	0.34729	0.915000	0.36163	0.467000	0.32768	1.946000	0.40283	1.408000	0.46895	0.655000	0.94253	CCC	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000316226.2		+	ENST00000400585.2	Missense_Mutation	SNP	22 : 18021876 - 18021876 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	97	13
LAMA2	3908	broad.mit.edu	37	6	129687448	129687448	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129687448C>T	ENST00000421865.2	+	33	4851	c.4802C>T	c.(4801-4803)cCg>cTg	p.P1601L		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1601	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTCACTGGTCCGCTGCCTGCG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	89	94			NA	NA	6		NA											NA				129687448		2203	4300	6503	SO:0001583	missense			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569	3908	3908		Laminins	6482	protein-coding gene	gene with protein product	merosin, congenital muscular dystrophy	156225		LAMM	NA	2185464, 8294519	Standard		NM_000426	NA	Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4802C>T	6.37:g.129687448C>T	ENSP00000400365:p.Pro1601Leu	NA	Q14736|Q5VUM2|Q93022	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.578180	0.45902	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.08458	3.09	5.05	5.05	0.67936	Laminin I (1);	0.000000	0.85682	D	0.000000	T	0.10337	0.0253	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.28170	-1.0052	10	0.10377	T	0.69	.	16.9754	0.86311	0.0:1.0:0.0:0.0	.	1601;1601	A6NF00;P24043	.;LAMA2_HUMAN	L	1601	ENSP00000400365:P1601L	ENSP00000346769:P1601L	P	+	2	0	LAMA2	129729141	1.000000	0.71417	0.990000	0.47175	0.751000	0.42716	5.165000	0.64959	2.503000	0.84419	0.655000	0.94253	CCG	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042180.1		+	ENST00000421865.2	Missense_Mutation	SNP	6 : 129687448 - 129687448 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	60
KCNU1	157855	broad.mit.edu	37	8	36694367	36694367	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:36694367C>T	ENST00000399881.3	+	14	1459	c.1422C>T	c.(1420-1422)tgC>tgT	p.C474C		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	474	RCK N-terminal.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ACATCATCTGCTTTGCTGAAT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	147	147			NA	NA	8		NA											NA				36694367		1872	4116	5988	SO:0001819	synonymous_variant			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262	157855	157855		Potassium channels, Voltage-gated ion channels / Potassium channels, calcium-activated	18867	protein-coding gene	gene with protein product		615215			NA	16382103	Standard	NM_001031836	NM_001031836	NA	Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1422C>T	8.37:g.36694367C>T		NA		37	CCDS55220.1																																																																																			KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376631.1		+	ENST00000399881.3	Silent	SNP	8 : 36694367 - 36694367 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	538	51
XIRP2	129446	broad.mit.edu	37	2	167760305	167760305	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167760305C>T	ENST00000409195.1	+	2	402	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C	XIRP2_ENST00000409043.1_Missense_Mutation_p.R105C|XIRP2_ENST00000295237.9_Missense_Mutation_p.R105C|XIRP2_ENST00000420519.1_Missense_Mutation_p.R105C|XIRP2_ENST00000409728.1_Missense_Mutation_p.R105C|XIRP2_ENST00000409756.2_Missense_Mutation_p.R105C	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding	p.R105C(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAGCAGTCGGCGCAGGATTGA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	large_intestine(2)											114	116	115			NA	NA	2		NA											NA				167760305		2024	4159	6183	SO:0001583	missense			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092	129446	129446			14303	protein-coding gene	gene with protein product	myomaxin	609778	cardiomyopathy associated 3	CMYA3	NA	17046827, 12203715, 15454575	Standard	NM_152381	NM_001079810	NA	Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.313C>T	2.37:g.167760305C>T	ENSP00000386840:p.Arg105Cys	NA	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.511643	0.27036	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	D;D;T;D;D;T	0.82344	-1.58;-1.6;3.79;-1.58;-1.6;3.79	5.12	4.23	0.50019	.	.	.	.	.	T	0.75102	0.3804	.	.	.	0.40273	D	0.978316	P;P	0.46395	0.877;0.877	B;B	0.38562	0.276;0.276	T	0.78661	-0.2117	8	0.87932	D	0	-2.224	8.5532	0.33465	0.0:0.8965:0.0:0.1035	.	105;105	A4UGR9-4;A4UGR9-6	.;.	C	105	ENSP00000386454:R105C;ENSP00000386619:R105C;ENSP00000386840:R105C;ENSP00000386724:R105C;ENSP00000415541:R105C;ENSP00000295237:R105C	ENSP00000295237:R105C	R	+	1	0	XIRP2	167468551	0.964000	0.33143	0.939000	0.37840	0.218000	0.24690	1.551000	0.36233	2.390000	0.81377	0.655000	0.94253	CGC	XIRP2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333547.1		+	ENST00000409195.1	Missense_Mutation	SNP	2 : 167760305 - 167760305 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	398	68
GUCY2F	2986	broad.mit.edu	37	X	108628419	108628419	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:108628419C>A	ENST00000218006.2	-	16	3340	c.3049G>T	c.(3049-3051)Ggc>Tgc	p.G1017C		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1017					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TCACGTAAGCCTGTAGATTCC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	90	102			NA	NA	X		NA											NA				108628419		2203	4300	6503	SO:0001583	missense			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890	2986	2986			4691	protein-coding gene	gene with protein product	guanylate cyclase 2D-like, membrane (retina-specific)	300041			NA	8838319, 7777544	Standard	NM_001522	NM_001522	NA	Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.3049G>T	X.37:g.108628419C>A	ENSP00000218006:p.Gly1017Cys	NA	Q9UJF1	37	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635813	0.67130	.	.	ENSG00000101890	ENST00000218006	D	0.86497	-2.13	4.24	4.24	0.50183	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.85682	D	0.000000	D	0.92954	0.7758	M	0.81614	2.55	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.93696	0.7011	10	0.87932	D	0	.	13.4908	0.61393	0.0:1.0:0.0:0.0	.	1017	P51841	GUC2F_HUMAN	C	1017	ENSP00000218006:G1017C	ENSP00000218006:G1017C	G	-	1	0	GUCY2F	108515075	1.000000	0.71417	0.991000	0.47740	0.988000	0.76386	4.778000	0.62368	2.350000	0.79820	0.600000	0.82982	GGC	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057884.1		-	ENST00000218006.2	Missense_Mutation	SNP	X : 108628419 - 108628419 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	69
RIMKLB	57494	broad.mit.edu	37	12	8926329	8926329	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8926329G>A	ENST00000538135.1	+	6	1935	c.1110G>A	c.(1108-1110)ctG>ctA	p.L370L	RIMKLB_ENST00000299673.5_Intron|RIMKLB_ENST00000535829.1_Silent_p.L370L|RIMKLB_ENST00000357529.3_Silent_p.L370L			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	370					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CAGGGGGCCTGTTCAACATGA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	78	79			NA	NA	12		NA											NA				8926329		1892	4109	6001	SO:0001819	synonymous_variant			AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	57494	57494	6.3.2.N6		29228	protein-coding gene	gene with protein product	N-acetylaspartyl-glutamate synthetase	614054	family with sequence similarity 80, member B	FAM80B	NA	10574462, 20643647	Standard	NM_020734	XM_006719116	NA	Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.1110G>A	12.37:g.8926329G>A		NA	B7Z834|D3DUV2|Q8N4P4|Q8WTW6	37	CCDS41748.1																																																																																			RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398874.1		+	ENST00000538135.1	Silent	SNP	12 : 8926329 - 8926329 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	761	150
OLIG3	167826	broad.mit.edu	37	6	137814819	137814819	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137814819G>A	ENST00000367734.2	-	1	712	c.489C>T	c.(487-489)acC>acT	p.T163T		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		AGTGGCCCACGGTCCCGCAGT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	34	33			NA	NA	6		NA											NA				137814819		2203	4300	6503	SO:0001819	synonymous_variant			AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468	167826	167826		Basic helix-loop-helix proteins	18003	protein-coding gene	gene with protein product		609323			NA		Standard	NM_175747	NM_175747	NA	Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.489C>T	6.37:g.137814819G>A		NA	Q8N8Q0	37	CCDS5186.1																																																																																			OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042405.1		-	ENST00000367734.2	Silent	SNP	6 : 137814819 - 137814819 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	285	30
ZNF415	55786	broad.mit.edu	37	19	53612015	53612015	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53612015G>A	ENST00000500065.4	-	4	1616	c.1283C>T	c.(1282-1284)gCg>gTg	p.A428V	ZNF415_ENST00000421033.1_Missense_Mutation_p.A440V|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000440291.1_Missense_Mutation_p.A415V|ZNF415_ENST00000243643.4_Missense_Mutation_p.A428V|ZNF415_ENST00000455735.2_Missense_Mutation_p.A476V|ZNF415_ENST00000448501.1_Missense_Mutation_p.A476V|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000601493.1_Missense_Mutation_p.A198V	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CCGATGACTCGCAAGGTGTGA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	117	118			NA	NA	19		NA											NA				53612015		2203	4300	6503	SO:0001583	missense			AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954	55786	55786		Zinc fingers, C2H2-type, -	20636	protein-coding gene	gene with protein product					NA	14702039	Standard	NM_018355	NM_001136038	NA	Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.1283C>T	19.37:g.53612015G>A	ENSP00000439435:p.Ala428Val	NA	Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	37	CCDS54313.1	.	.	.	.	.	.	.	.	.	.	G	3.941	-0.014304	0.07681	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	T;T;T;T;T;T	0.07800	3.16;3.16;3.16;3.16;3.16;3.16	2.77	-1.02	0.10135	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02571	0.0078	N	0.11201	0.11	0.09310	N	1	B;P;P;B;P;P	0.51147	0.339;0.719;0.565;0.339;0.51;0.942	B;B;B;B;B;B	0.32393	0.008;0.094;0.019;0.008;0.015;0.145	T	0.42344	-0.9457	9	0.30078	T	0.28	.	3.1834	0.06592	0.3435:0.0:0.4691:0.1874	.	428;476;476;428;415;440	F5H287;B3KTG1;Q09FC8;Q09FC8-5;Q09FC8-4;Q09FC8-2	.;.;ZN415_HUMAN;.;.;.	V	428;428;476;440;476;415	ENSP00000243643:A428V;ENSP00000439435:A428V;ENSP00000396492:A476V;ENSP00000395055:A440V;ENSP00000388787:A476V;ENSP00000414601:A415V	ENSP00000243643:A428V	A	-	2	0	ZNF415	58303827	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.307000	0.08167	-0.224000	0.09928	-0.350000	0.07774	GCG	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464043.1		-	ENST00000500065.4	Missense_Mutation	SNP	19 : 53612015 - 53612015 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	638	122
ANKS1B	56899	broad.mit.edu	37	12	99548174	99548174	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:99548174C>A	ENST00000547776.2	-	15	2419		c.e15-1		ANKS1B_ENST00000549025.2_Splice_Site|ANKS1B_ENST00000547446.1_Splice_Site|ANKS1B_ENST00000329257.7_Splice_Site|ANKS1B_ENST00000549493.2_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000546568.1_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000547010.1_Splice_Site|ANKS1B_ENST00000546960.1_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000332712.7_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000549558.2_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000550693.2_Nonsense_Mutation_p.G33*	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	NA						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CATCTGGGTCCTGTAAGAGGA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	110	109			NA	NA	12		NA											NA				99548174		1996	4158	6154	SO:0001630	splice_region_variant			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10					56899	56899		Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	24600	protein-coding gene	gene with protein product		607815			NA	10490826, 12415113	Standard	NM_020140	NM_020140	NA	Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.2420-1G>T	12.37:g.99548174C>A		NA	A5PKY5|A7E259|A8K153|A8MSN4|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	37	CCDS55872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.19|15.19	2.761311|2.761311	0.49468|0.49468	.|.	.|.	ENSG00000185046|ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000547446;ENST00000550778|ENST00000549558;ENST00000550693;ENST00000549493;ENST00000546568;ENST00000332712;ENST00000546960;ENST00000552245	.|.	.|.	.|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	18.6025|18.6025	0.91253|0.91253	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|X	-1|33	.|.	.|.	.|G	-|-	.|1	.|0	ANKS1B|ANKS1B	98072305|98072305	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.450000|5.450000	0.66626|0.66626	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	.|GGA	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408421.3	Intron	-	ENST00000547776.2	Splice_Site	SNP	12 : 99548174 - 99548174 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	281	59
CREBBP	1387	broad.mit.edu	37	16	3778862	3778862	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3778862G>A	ENST00000262367.5	-	31	6995	c.6186C>T	c.(6184-6186)atC>atT	p.I2062I	CREBBP_ENST00000382070.3_Silent_p.I2024I	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2062					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CGCTGGGTGAGATGCTCCTGG	0.652		NA	T, N, F, Mis, O	MLL, MORF, RUNXBP2	ALL, AML, DLBCL, B-NHL 		Rubinstein-Taybi syndrome							NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001819	synonymous_variant			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339	1387	1387		Chromatin-modifying enzymes / K-acetyltransferases	2348	protein-coding gene	gene with protein product		600140	Rubinstein-Taybi syndrome	RSTS	NA	8413673	Standard	NM_004380	NM_001079846	NA	Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.6186C>T	16.37:g.3778862G>A		NA	D3DUC9|O00147|Q16376	37	CCDS10509.1																																																																																			CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251591.2		-	ENST00000262367.5	Silent	SNP	16 : 3778862 - 3778862 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	449	27
ADAR	103	broad.mit.edu	37	1	154569664	154569664	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154569664C>T	ENST00000368474.4	-	5	2213	c.2014G>A	c.(2014-2016)Gcc>Acc	p.A672T	ADAR_ENST00000368471.3_Missense_Mutation_p.A377T|ADAR_ENST00000292205.5_Missense_Mutation_p.A715T	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	672	DRBM 2.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TCCTCTGCGGCCATCTGCTTT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	68	70			NA	NA	1		NA											NA				154569664		2203	4300	6503	SO:0001583	missense			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	103	103	3.5.4.-		225	protein-coding gene	gene with protein product		146920	interferon-induced protein 4	IFI4, G1P1	NA	7972084	Standard	NM_001111	NM_001111	NA	Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.2014G>A	1.37:g.154569664C>T	ENSP00000357459:p.Ala672Thr	NA	B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	37	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	C	36	5.771357	0.96922	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05	5.43	5.43	0.79202	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.97321	0.9124	H	0.94183	3.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.97553	1.0093	10	0.66056	D	0.02	-17.8525	19.4276	0.94749	0.0:1.0:0.0:0.0	.	672;672;672	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	T	715;672;377;667	ENSP00000292205:A715T;ENSP00000357459:A672T;ENSP00000357456:A377T;ENSP00000431794:A667T	ENSP00000292205:A715T	A	-	1	0	ADAR	152836288	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.225000	0.78051	2.813000	0.96785	0.655000	0.94253	GCC	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090691.2		-	ENST00000368474.4	Missense_Mutation	SNP	1 : 154569664 - 154569664 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	69
FRMD5	84978	broad.mit.edu	37	15	44184228	44184228	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44184228A>C	ENST00000402883.1	-	8	834	c.679T>G	c.(679-681)Ttt>Gtt	p.F227V	FRMD5_ENST00000484674.1_Missense_Mutation_p.F138V|FRMD5_ENST00000417257.1_Missense_Mutation_p.F227V			Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	227	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		ACAAACCCAAAAGGAGTGAAG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	124	133			NA	NA	15		NA											NA				44184228		2198	4298	6496	SO:0001583	missense			BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877	84978	84978			28214	protein-coding gene	gene with protein product					NA		Standard	NM_032892	XM_005254729	NA	Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000402883.1:c.679T>G	15.37:g.44184228A>C	ENSP00000384142:p.Phe227Val	NA	Q8NBG4	37		.	.	.	.	.	.	.	.	.	.	A	10.94	1.493163	0.26774	.	.	ENSG00000171877	ENST00000417257;ENST00000402883;ENST00000449926	D;D;D	0.86432	-2.12;-2.12;-2.12	4.48	4.48	0.54585	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.137493	0.64402	D	0.000020	T	0.78162	0.4240	N	0.19112	0.55	0.80722	D	1	B;B	0.25850	0.136;0.136	B;B	0.23852	0.049;0.049	T	0.75909	-0.3151	10	0.42905	T	0.14	.	13.0247	0.58808	1.0:0.0:0.0:0.0	.	227;227	Q7Z6J6;B5MC67	FRMD5_HUMAN;.	V	227;227;193	ENSP00000403067:F227V;ENSP00000384142:F227V;ENSP00000399684:F193V	ENSP00000384142:F227V	F	-	1	0	FRMD5	41971520	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.341000	0.90046	2.011000	0.59026	0.377000	0.23210	TTT	FRMD5-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000317312.1		-	ENST00000402883.1	Missense_Mutation	SNP	15 : 44184228 - 44184228 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	290	61
MAGT1	84061	broad.mit.edu	37	X	77131009	77131009	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77131009C>T	ENST00000373336.3	-	2	217	c.188G>A	c.(187-189)cGc>cAc	p.R63H	MAGT1_ENST00000358075.6_Missense_Mutation_p.R95H			Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	63					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						TTTCACAAGGCGACGGAACTT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													234	214	221			NA	NA	X		NA											NA				77131009		2203	4296	6499	SO:0001583	missense				CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158	84061	84061			28880	protein-coding gene	gene with protein product	oligosaccharyltransferase 3 homolog B (S. cerevisiae)	300715			NA	15804357	Standard	NM_032121	NM_032121	NA	Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000373336.3:c.188G>A	X.37:g.77131009C>T	ENSP00000362433:p.Arg63His	NA	B2RAR4|D3DTE3|Q53G00|Q8NBN6	37		.	.	.	.	.	.	.	.	.	.	C	18.10	3.547448	0.65311	.	.	ENSG00000102158	ENST00000358075;ENST00000373336	T;T	0.22945	1.93;1.93	5.69	5.69	0.88448	Thioredoxin-like fold (2);	0.000000	0.85682	U	0.000000	T	0.25121	0.0610	L	0.42245	1.32	0.80722	D	1	P;B	0.48998	0.918;0.039	B;B	0.38562	0.276;0.01	T	0.02121	-1.1210	10	0.42905	T	0.14	-4.5856	18.8512	0.92230	0.0:1.0:0.0:0.0	.	63;95	Q9H0U3;B4DH58	MAGT1_HUMAN;.	H	95;63	ENSP00000354649:R95H;ENSP00000362433:R63H	ENSP00000354649:R95H	R	-	2	0	MAGT1	77017665	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.403000	0.79983	2.398000	0.81561	0.600000	0.82982	CGC	MAGT1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000057302.2		-	ENST00000373336.3	Missense_Mutation	SNP	X : 77131009 - 77131009 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	577	199
BPIFC	254240	broad.mit.edu	37	22	32843277	32843277	+	Translation_Start_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32843277G>T	ENST00000397452.1	-	4	406	c.296C>A	c.(295-297)cCt>cAt	p.P99H	BPIFC_ENST00000534972.1_De_novo_Start_OutOfFrame|BPIFC_ENST00000432451.2_De_novo_Start_OutOfFrame|BPIFC_ENST00000300399.3_Missense_Mutation_p.P99H			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	99						extracellular region	lipopolysaccharide binding|phospholipid binding				NA						TCCCACTCCAGGCACAAAAGC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	107	112			NA	NA	22		NA											NA				32843277		2203	4300	6503	SO:0001583	missense			AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459	254240	254240		BPI fold containing	16503	protein-coding gene	gene with protein product		614109	bactericidal/permeability-increasing protein-like 2	BPIL2	NA		Standard	NM_174932	NM_174932	NA	Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.296C>A	22.37:g.32843277G>T	ENSP00000380594:p.Pro99His	NA		37	CCDS13906.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878428	0.51801	.	.	ENSG00000184459	ENST00000397452;ENST00000300399	T;T	0.07114	3.22;3.22	5.87	5.87	0.94306	.	0.053128	0.85682	D	0.000000	T	0.32941	0.0846	M	0.82923	2.615	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.01516	-1.1335	10	0.87932	D	0	-19.4548	16.0731	0.80948	0.0:0.0:1.0:0.0	.	99	Q8NFQ6	BPIFC_HUMAN	H	99	ENSP00000380594:P99H;ENSP00000300399:P99H	ENSP00000300399:P99H	P	-	2	0	BPIFC	31173277	1.000000	0.71417	0.994000	0.49952	0.149000	0.21700	4.697000	0.61782	2.941000	0.99782	0.655000	0.94253	CCT	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000129029.2		-	ENST00000397452.1	Missense_Mutation	SNP	22 : 32843277 - 32843277 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	420	81
PPFIA2	8499	broad.mit.edu	37	12	81732974	81732974	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81732974G>A	ENST00000550584.2	-	20	2828	c.2533C>T	c.(2533-2535)Cga>Tga	p.R845*	PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.R692*|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.R827*|PPFIA2_ENST00000549396.1_Nonsense_Mutation_p.R845*|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.R845*|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.R827*|PPFIA2_ENST00000541570.2_Nonsense_Mutation_p.R412*|PPFIA2_ENST00000541017.1_Nonsense_Mutation_p.R62*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.R845*|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.R746*|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.R771*	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	771								p.R845*(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TGCCCAAGTCGAGCTTTTTCT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Nonsense(1)	large_intestine(1)											197	195	196			NA	NA	12		NA											NA				81732974		1863	4103	5966	SO:0001587	stop_gained			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10					8499	8499		Sterile alpha motif (SAM) domain containing	9246	protein-coding gene	gene with protein product	Liprin-alpha2	603143			NA	9624153	Standard		NM_003625	NA	Approved		uc031qis.1	O75334		ENST00000550584.2:c.2533C>T	12.37:g.81732974G>A	ENSP00000449558:p.Arg845*	NA	E7ERB8	37	CCDS59236.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.981454|3.981454	0.74474|0.74474	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000551147	.|.	.|.	.|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79805	.|0.4509	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77905	.|-0.2413	.|3	0.02654|.	T|.	1|.	-9.8226|-9.8226	19.7201|19.7201	0.96139|0.96139	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	845;827;412;62;771;856;827;845;746;845|7	.|.	ENSP00000327416:R827X|.	R|S	-|-	1|2	2|0	PPFIA2|PPFIA2	80257105|80257105	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.679000|0.679000	0.39708|0.39708	3.168000|3.168000	0.50801|0.50801	2.661000|2.661000	0.90470|0.90470	0.561000|0.561000	0.74099|0.74099	CGA|TCG	PPFIA2-002	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408031.2		-	ENST00000550584.2	Nonsense_Mutation	SNP	12 : 81732974 - 81732974 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	887	163
LIN9	286826	broad.mit.edu	37	1	226454009	226454009	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226454009G>A	ENST00000328205.5	-	9	1434	c.889C>T	c.(889-891)Cca>Tca	p.P297S	LIN9_ENST00000481685.1_Missense_Mutation_p.P262S|LIN9_ENST00000366801.1_Missense_Mutation_p.P246S	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	281					cell cycle|DNA replication	nucleoplasm				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		GCAGCAATTGGCATTGTCTCA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(197;1696 2974 11248 14117)							NA				0													58	58	58			NA	NA	1		NA											NA				226454009		2203	4300	6503	SO:0001583	missense			AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814	286826	286826			30830	protein-coding gene	gene with protein product	TUDOR gene similar, rb related pathway actor	609375	lin-9 homolog (C. elegans)		NA	15538385, 23667535	Standard	NM_173083	NM_173083	NA	Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.889C>T	1.37:g.226454009G>A	ENSP00000329102:p.Pro297Ser	NA	Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	37	CCDS1553.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.005920	0.54254	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685;ENST00000366807	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.48804	0.1520	L	0.33485	1.01	0.80722	D	1	B;B;P	0.37330	0.15;0.11;0.59	B;B;B	0.34180	0.027;0.057;0.177	T	0.39482	-0.9612	9	0.25106	T	0.35	.	20.1218	0.97964	0.0:0.0:1.0:0.0	.	262;281;431	C9J5J4;Q5TKA1;B1ANK3	.;LIN9_HUMAN;.	S	257;297;352;246;262;431	.	ENSP00000329102:P297S	P	-	1	0	LIN9	224520632	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.584000	0.90798	2.763000	0.94921	0.561000	0.74099	CCA	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091523.2		-	ENST00000328205.5	Missense_Mutation	SNP	1 : 226454009 - 226454009 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	152	44
TMEM95	339168	broad.mit.edu	37	17	7259362	7259362	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7259362G>A	ENST00000389982.4	+	4	404	c.322G>A	c.(322-324)Gcc>Acc	p.A108T	TMEM95_ENST00000576060.1_Missense_Mutation_p.A108T|TMEM95_ENST00000330767.4_Missense_Mutation_p.A108T			Q3KNT9	TMM95_HUMAN	transmembrane protein 95	108						integral to membrane				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				CTGTCCCCCCGCCTGCCGTGA	0.597		NA									OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA	0,4406		0,0,2203	76	76	76		322	1.7	0.2	17		76	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM95	NM_198154.1	58	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	possibly-damaging	108/185	7259362	1,13005	2203	4300	6503	SO:0001583	missense				CCDS32546.1	17p13.1	2005-12-15			ENSG00000182896	ENSG00000182896	339168	339168			27898	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_198154	NM_198154	NA	Approved	MGC129793, UNQ9390	uc002ggf.1	Q3KNT9	OTTHUMG00000132899	ENST00000389982.4:c.322G>A	17.37:g.7259362G>A	ENSP00000374632:p.Ala108Thr	640	B7WPI7|Q6UXT3|Q8IW68	37		.	.	.	.	.	.	.	.	.	.	G	12.46	1.944504	0.34283	0.0	1.16E-4	ENSG00000182896	ENST00000389982;ENST00000330767	.	.	.	4.79	1.7	0.24286	.	0.179711	0.27176	N	0.020567	T	0.16811	0.0404	N	0.19112	0.55	0.09310	N	0.999995	B;P;B	0.34462	0.168;0.454;0.168	B;B;B	0.26614	0.022;0.071;0.022	T	0.10989	-1.0606	9	0.45353	T	0.12	.	4.215	0.10530	0.1913:0.0:0.6273:0.1814	.	108;108;108	Q3KNT9;Q3KNT9-3;Q3KNT9-2	TMM95_HUMAN;.;.	T	108	.	ENSP00000331466:A108T	A	+	1	0	TMEM95	7200086	0.001000	0.12720	0.233000	0.24025	0.123000	0.20343	0.341000	0.19909	0.250000	0.21479	-0.215000	0.12644	GCC	TMEM95-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000256403.1		+	ENST00000389982.4	Missense_Mutation	SNP	17 : 7259362 - 7259362 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	595	133
CRB2	286204	broad.mit.edu	37	9	126132762	126132762	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:126132762G>T	ENST00000373631.3	+	7	1431	c.1430G>T	c.(1429-1431)cGc>cTc	p.R477L	CRB2_ENST00000359999.3_Missense_Mutation_p.R477L|CRB2_ENST00000373629.2_Missense_Mutation_p.R145L	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	477	Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TTGGCCACTCGCAATGACACC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	47	50			NA	NA	9		NA											NA				126132762		2203	4300	6503	SO:0001583	missense			AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204	286204	286204			18688	protein-coding gene	gene with protein product		609720	crumbs homolog 2 (Drosophila)		NA	14767562	Standard	NM_173689	XM_005251934	NA	Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.1430G>T	9.37:g.126132762G>T	ENSP00000362734:p.Arg477Leu	NA	A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	37	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528863	0.27387	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	T;T;T	0.75477	-0.94;-0.94;-0.94	4.94	3.03	0.35002	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.381500	0.19233	N	0.119356	T	0.63604	0.2525	L	0.43598	1.365	0.50039	D	0.999842	B;P	0.37233	0.22;0.588	B;B	0.36719	0.165;0.231	T	0.54523	-0.8281	10	0.27785	T	0.31	.	9.2438	0.37513	0.0768:0.0:0.7738:0.1494	.	477;477	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	L	477;477;145	ENSP00000353092:R477L;ENSP00000362734:R477L;ENSP00000362732:R145L	ENSP00000353092:R477L	R	+	2	0	CRB2	125172583	0.982000	0.34865	0.546000	0.28166	0.431000	0.31685	2.445000	0.44899	0.453000	0.26858	0.448000	0.29417	CGC	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053990.3		+	ENST00000373631.3	Missense_Mutation	SNP	9 : 126132762 - 126132762 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	218	39
NLRP8	126205	broad.mit.edu	37	19	56466774	56466774	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56466774A>C	ENST00000291971.3	+	3	1421	c.1350A>C	c.(1348-1350)caA>caC	p.Q450H	NLRP8_ENST00000590542.1_Missense_Mutation_p.Q450H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	450	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ACCAAGCACAACTGGAAGGTC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	94	95			NA	NA	19		NA											NA				56466774		2203	4300	6503	SO:0001583	missense			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709	126205	126205		Nucleotide-binding domain and leucine rich repeat containing	22940	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8	609659	NACHT, leucine rich repeat and PYD containing 8	NALP8	NA	12563287	Standard	NM_176811	NM_176811	NA	Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1350A>C	19.37:g.56466774A>C	ENSP00000291971:p.Gln450His	NA	Q7RTR4	37	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	A	5.959	0.360931	0.11296	.	.	ENSG00000179709	ENST00000291971	D	0.83992	-1.79	1.78	-3.56	0.04626	.	.	.	.	.	T	0.77405	0.4125	M	0.62016	1.91	0.09310	N	1	P;B	0.34546	0.456;0.41	B;B	0.39339	0.297;0.275	T	0.65323	-0.6196	9	0.39692	T	0.17	.	3.9769	0.09478	0.2802:0.4107:0.3091:0.0	.	450;450	Q86W28-2;Q86W28	.;NALP8_HUMAN	H	450	ENSP00000291971:Q450H	ENSP00000291971:Q450H	Q	+	3	2	NLRP8	61158586	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-2.334000	0.01107	-1.427000	0.01992	0.421000	0.28195	CAA	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457462.1		+	ENST00000291971.3	Missense_Mutation	SNP	19 : 56466774 - 56466774 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	585	101
WDR90	197335	broad.mit.edu	37	16	708580	708580	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:708580G>A	ENST00000549091.1	+	23	2914	c.2822G>A	c.(2821-2823)cGc>cAc	p.R941H	WDR90_ENST00000293879.4_Missense_Mutation_p.R941H	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	941										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GAGGACGCCCGCTTCCTGCTG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	50	47			NA	NA	16		NA											NA				708580		2079	4190	6269	SO:0001583	missense			AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996	197335	197335		WD repeat domain containing	26960	protein-coding gene	gene with protein product			chromosome 16 open reading frame 17, chromosome 16 open reading frame 15, chromosome 16 open reading frame 16, chromosome 16 open reading frame 19, chromosome 16 open reading frame 18	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18	NA	11572484, 11157797	Standard	NM_145294	XM_005255160	NA	Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000549091.1:c.2822G>A	16.37:g.708580G>A	ENSP00000448122:p.Arg941His	NA	Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	37		.	.	.	.	.	.	.	.	.	.	G	8.143	0.785589	0.16189	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.53423	0.62;3.51	5.12	-2.04	0.07343	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.080706	0.50627	U	0.000119	T	0.32315	0.0825	L	0.50847	1.595	0.09310	N	1	B;B	0.27971	0.066;0.196	B;B	0.18561	0.011;0.022	T	0.15178	-1.0446	10	0.31617	T	0.26	.	7.9236	0.29861	0.3941:0.1034:0.5026:0.0	.	941;941	F8VUX9;Q96KV7	.;WDR90_HUMAN	H	941	ENSP00000448122:R941H;ENSP00000293879:R941H	ENSP00000293879:R941H	R	+	2	0	WDR90	648581	0.016000	0.18221	0.000000	0.03702	0.001000	0.01503	0.987000	0.29603	-0.231000	0.09825	-0.140000	0.14226	CGC	WDR90-001	NOVEL	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000109343.3		+	ENST00000549091.1	Missense_Mutation	SNP	16 : 708580 - 708580 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	365	110
AMIGO1	57463	broad.mit.edu	37	1	110051532	110051532	+	Translation_Start_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110051532C>T	ENST00000369864.4	-	2	352	c.3G>A	c.(1-3)atG>atA	p.M1I	AMIGO1_ENST00000369862.1_Start_Codon_SNP_p.M1I			Q86WK6	AMGO1_HUMAN	adhesion molecule with Ig-like domain 1	1					axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		GGTGGGGGTGCATAGTGTCAC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													10	13	12			NA	NA	1		NA											NA				110051532		2191	4288	6479	SO:0001582	initiator_codon_variant				CCDS30795.1	1p13.3	2013-01-11			ENSG00000181754	ENSG00000181754	57463	57463		Immunoglobulin superfamily / V-set domain containing	20824	protein-coding gene	gene with protein product	amphoterin-induced gene and open reading frame	615689			NA	12629050	Standard	NM_020703	NM_020703	NA	Approved	AMIGO, KIAA1163	uc001dxx.4	Q86WK6	OTTHUMG00000011653	ENST00000369864.4:c.3G>A	1.37:g.110051532C>T	ENSP00000358880:p.Met1Ile	NA	B4DIM3|Q8IW71|Q9ULQ7	37	CCDS30795.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.728401	0.48833	.	.	ENSG00000181754	ENST00000369864;ENST00000369862	T;T	0.48836	0.8;0.8	5.07	5.07	0.68467	.	0.213428	0.30547	U	0.009382	T	0.56906	0.2017	.	.	.	0.80722	D	1	P	0.49447	0.924	P	0.57776	0.827	T	0.61222	-0.7106	9	0.87932	D	0	-15.621	15.4744	0.75465	0.0:1.0:0.0:0.0	.	1	Q86WK6	AMGO1_HUMAN	I	1	ENSP00000358880:M1I;ENSP00000358878:M1I	ENSP00000358878:M1I	M	-	3	0	AMIGO1	109853055	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.855000	0.39378	2.625000	0.88918	0.650000	0.86243	ATG	AMIGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032247.1	Missense_Mutation	-	ENST00000369864.4	Start_Codon_SNP	SNP	1 : 110051532 - 110051532 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	66	22
COL1A2	1278	broad.mit.edu	37	7	94054952	94054952	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94054952C>T	ENST00000297268.6	+	43	3283	c.2812C>T	c.(2812-2814)Cgc>Tgc	p.R938C		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	938					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCCCCCAGGTCGCGATGGTCA	0.483		NA								HNSCC(75;0.22)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	96	99			NA	NA	7		NA											NA				94054952		2203	4300	6503	SO:0001583	missense			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692	1278	1278		Collagens	2198	protein-coding gene	gene with protein product	alpha 2(I)-collagen, alpha-2 collagen type I, type I procollagen, collagen I, alpha-2 polypeptide, collagen of skin, tendon and bone, alpha-2 chain	120160	osteogenesis imperfecta type IV	OI4	NA	3857213, 2897363	Standard	NM_000089	NM_000089	NA	Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2812C>T	7.37:g.94054952C>T	ENSP00000297268:p.Arg938Cys	NA	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	37	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428428	0.83667	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.94330	-3.4	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.97120	0.9059	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97202	0.9865	10	0.87932	D	0	.	19.5787	0.95455	0.0:1.0:0.0:0.0	.	938	P08123	CO1A2_HUMAN	C	938;939	ENSP00000297268:R938C	ENSP00000297268:R938C	R	+	1	0	COL1A2	93892888	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.651000	0.83577	2.941000	0.99782	0.655000	0.94253	CGC	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000309045.2		+	ENST00000297268.6	Missense_Mutation	SNP	7 : 94054952 - 94054952 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	439	65
SCAPER	49855	broad.mit.edu	37	15	77064232	77064232	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77064232T>G	ENST00000538941.2	-	10	1300	c.361A>C	c.(361-363)Act>Cct	p.T121P	SCAPER_ENST00000324767.7_Missense_Mutation_p.T367P|SCAPER_ENST00000563290.1_Missense_Mutation_p.T367P	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	366						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						ATTTCAGAAGTTCGAACATAA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	123	125			NA	NA	15		NA											NA				77064232		1865	4114	5979	SO:0001583	missense			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386	49855	49855		Zinc fingers, C2H2-type	13081	protein-coding gene	gene with protein product		611611	zinc finger protein 291	ZNF291	NA	17698606	Standard	NM_020843	NM_020843	NA	Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000538941.2:c.361A>C	15.37:g.77064232T>G	ENSP00000442190:p.Thr121Pro	NA	Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	37	CCDS53961.1	.	.	.	.	.	.	.	.	.	.	T	6.729	0.503271	0.12822	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.26660	1.83;1.72	5.11	1.21	0.21127	.	0.674263	0.15665	N	0.250695	T	0.20861	0.0502	M	0.65975	2.015	0.19945	N	0.999945	B;B;B	0.31040	0.305;0.002;0.001	B;B;B	0.31614	0.133;0.001;0.001	T	0.20472	-1.0274	10	0.33141	T	0.24	.	0.9449	0.01363	0.1512:0.2691:0.1568:0.4229	.	367;382;121	Q6NSF1;Q9BY12-2;F5H7X8	.;.;.	P	367;121;383	ENSP00000326924:T367P;ENSP00000442190:T121P	ENSP00000303560:T383P	T	-	1	0	SCAPER	74851287	0.008000	0.16893	0.154000	0.22540	0.131000	0.20780	0.008000	0.13197	0.351000	0.24027	0.477000	0.44152	ACT	SCAPER-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419697.1		-	ENST00000538941.2	Missense_Mutation	SNP	15 : 77064232 - 77064232 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	456	45
MST1	4485	broad.mit.edu	37	3	49723901	49723901	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49723901C>A	ENST00000449682.2	-	8	1222	c.861G>T	c.(859-861)caG>caT	p.Q287H	MST1_ENST00000383728.3_Missense_Mutation_p.Q212H|MST1_ENST00000545762.1_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	273	Kringle 3.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTTGGCGGGGCTGTGCCTCGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(110;181 1524 8005 22865 46297)							NA				0													27	30	29			NA	NA	3		NA											NA				49723901		2202	4297	6499	SO:0001583	missense			M74178	CCDS33757.2	3p21	2008-09-05			ENSG00000173531	ENSG00000173531	4485	4485			7380	protein-coding gene	gene with protein product	hepatocyte growth factor-like protein homolog	142408		D3F15S2, HGFL, DNF15S2	NA	2902784, 8393443	Standard	NM_020998	NM_020998	NA	Approved	MSP, NF15S2	uc003cxg.3	P26927	OTTHUMG00000155918	ENST00000449682.2:c.861G>T	3.37:g.49723901C>A	ENSP00000414287:p.Gln287His	NA	A6NLA3|A8MSX3|Q13350|Q14870|Q6GTN4	37	CCDS33757.2	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703548	0.48412	.	.	ENSG00000173531	ENST00000449682;ENST00000383728	T;T	0.62232	0.04;0.04	4.85	-3.32	0.04973	Kringle (1);Kringle-like fold (1);	0.181807	0.26665	N	0.023137	T	0.47173	0.1431	M	0.72118	2.19	0.19300	N	0.999978	B;B	0.09022	0.001;0.002	B;B	0.12837	0.004;0.008	T	0.32981	-0.9886	10	0.23891	T	0.37	.	0.8896	0.01252	0.4021:0.2414:0.1399:0.2166	.	273;287	P26927;G3XAK1	HGFL_HUMAN;.	H	287;212	ENSP00000414287:Q287H;ENSP00000373234:Q212H	ENSP00000373234:Q212H	Q	-	3	2	MST1	49698905	0.000000	0.05858	0.000000	0.03702	0.761000	0.43186	-1.327000	0.02682	-0.857000	0.04115	-0.843000	0.03049	CAG	MST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342315.3		-	ENST00000449682.2	Missense_Mutation	SNP	3 : 49723901 - 49723901 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	14
CATSPER1	117144	broad.mit.edu	37	11	65792817	65792817	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65792817C>T	ENST00000312106.5	-	1	1171	c.1034G>A	c.(1033-1035)cGt>cAt	p.R345H		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	345					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GACTCCTGTACGAGAAGCAGC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	97	105			NA	NA	11		NA											NA				65792817		2201	4296	6497	SO:0001583	missense			AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294	117144	117144		Voltage-gated ion channels / Cation channels, sperm associated	17116	protein-coding gene	gene with protein product		606389			NA	11675491, 11595941, 16382101	Standard	NM_053054	NM_053054	NA	Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.1034G>A	11.37:g.65792817C>T	ENSP00000309052:p.Arg345His	NA	Q96P76	37	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	C	0.512	-0.866270	0.02590	.	.	ENSG00000175294	ENST00000312106	D	0.96940	-4.18	2.15	-4.29	0.03721	.	.	.	.	.	D	0.83524	0.5273	N	0.01576	-0.805	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.76187	-0.3051	9	0.16896	T	0.51	.	5.2396	0.15464	0.0:0.5208:0.1772:0.302	.	345	Q8NEC5	CTSR1_HUMAN	H	345	ENSP00000309052:R345H	ENSP00000309052:R345H	R	-	2	0	CATSPER1	65549393	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.628000	0.02031	-1.542000	0.01725	-0.501000	0.04562	CGT	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391055.1		-	ENST00000312106.5	Missense_Mutation	SNP	11 : 65792817 - 65792817 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	273	28
GPR26	2849	broad.mit.edu	37	10	125447554	125447554	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:125447554C>T	ENST00000284674.1	+	3	945	c.892C>T	c.(892-894)Cga>Tga	p.R298*		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	298					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R298*(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CTCCTTACTGCGACACCAGTA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Nonsense(1)	breast(1)											84	74	78			NA	NA	10		NA											NA				125447554		2203	4300	6503	SO:0001587	stop_gained				CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478	2849	2849		GPCR / Class A : Orphans	4481	protein-coding gene	gene with protein product		604847			NA		Standard		NM_153442	NA	Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.892C>T	10.37:g.125447554C>T	ENSP00000284674:p.Arg298*	NA	Q2M2E2	37	CCDS7636.1	.	.	.	.	.	.	.	.	.	.	C	36	5.743927	0.96873	.	.	ENSG00000154478	ENST00000284674	.	.	.	5.59	-0.214	0.13161	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-4.1452	7.6698	0.28453	0.3459:0.5221:0.0:0.132	.	.	.	.	X	298	.	ENSP00000284674:R298X	R	+	1	2	GPR26	125437544	1.000000	0.71417	0.999000	0.59377	0.920000	0.55202	2.309000	0.43699	0.259000	0.21709	-0.237000	0.12165	CGA	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050850.1		+	ENST00000284674.1	Nonsense_Mutation	SNP	10 : 125447554 - 125447554 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	484	67
ROCK2	9475	broad.mit.edu	37	2	11337362	11337362	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11337362T>C	ENST00000315872.6	-	27	3840	c.3392A>G	c.(3391-3393)gAt>gGt	p.D1131G	ROCK2_ENST00000401753.1_Missense_Mutation_p.D888G	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1131		Cleavage; by granzyme B.			axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		ACTGGAACTATCCAGACCAAT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	117	120			NA	NA	2		NA											NA				11337362		1982	4162	6144	SO:0001583	missense			D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	9475	9475	2.7.11.1	Pleckstrin homology (PH) domain containing	10252	protein-coding gene	gene with protein product		604002			NA	9933571	Standard		NM_004850	NA	Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.3392A>G	2.37:g.11337362T>C	ENSP00000317985:p.Asp1131Gly	NA	Q53QZ0|Q53SJ7|Q9UQN5	37	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.885433	0.91814	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000399089	T;T	0.64991	-0.13;0.9	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.72914	0.3520	M	0.74881	2.28	0.80722	D	1	D	0.56035	0.974	P	0.53062	0.717	T	0.74447	-0.3662	10	0.42905	T	0.14	.	16.0084	0.80380	0.0:0.0:0.0:1.0	.	1131	O75116	ROCK2_HUMAN	G	1131;888;489	ENSP00000317985:D1131G;ENSP00000385509:D888G	ENSP00000317985:D1131G	D	-	2	0	ROCK2	11254813	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	7.842000	0.86851	2.180000	0.69256	0.460000	0.39030	GAT	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313886.3		-	ENST00000315872.6	Missense_Mutation	SNP	2 : 11337362 - 11337362 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	563	166
TPO	7173	broad.mit.edu	37	2	1459850	1459850	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1459850C>T	ENST00000345913.4	+	7	706	c.615C>T	c.(613-615)gtC>gtT	p.V205V	TPO_ENST00000382198.1_Silent_p.V205V|TPO_ENST00000329066.4_Silent_p.V205V|TPO_ENST00000382201.3_Silent_p.V205V|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Silent_p.V205V|TPO_ENST00000346956.3_Silent_p.V205V|TPO_ENST00000337415.3_Silent_p.V205V	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	205					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)	CTACCCAGGTCCGGGAGGTGA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	62	70			NA	NA	2		NA											NA				1459850		2203	4300	6503	SO:0001819	synonymous_variant				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.615C>T	2.37:g.1459850C>T		NA	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	37	CCDS1643.1																																																																																			TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206594.2		+	ENST00000345913.4	Silent	SNP	2 : 1459850 - 1459850 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	169	48
HMGCR	3156	broad.mit.edu	37	5	74639762	74639762	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74639762C>T	ENST00000287936.4	+	3	406	c.250C>T	c.(250-252)Cgt>Tgt	p.R84C	HMGCR_ENST00000343975.5_Missense_Mutation_p.R84C|HMGCR_ENST00000511206.1_Missense_Mutation_p.R84C	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	84					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CCAGAATTTACGTCAACTTGG	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	95	95			NA	NA	5		NA											NA				74639762		2203	4297	6500	SO:0001583	missense				CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	3156	3156	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	hydroxymethylglutaryl-CoA reductase, 3-hydroxy-3-methylglutaryl CoA reductase (NADPH)	142910	3-hydroxy-3-methylglutaryl-Coenzyme A reductase		NA		Standard		NM_000859	NA	Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.250C>T	5.37:g.74639762C>T	ENSP00000287936:p.Arg84Cys	NA	Q8N190	37	CCDS4027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.72|18.72	3.683876|3.683876	0.68157|0.68157	.|.	.|.	ENSG00000113161|ENSG00000113161	ENST00000511206;ENST00000287936;ENST00000343975;ENST00000507942|ENST00000544469	D;D;D|.	0.93247|.	-3.19;-3.19;-3.19|.	5.36|5.36	4.41|4.41	0.53225|0.53225	Sterol-sensing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70842|0.70842	0.3270|0.3270	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.80764|.	0.947;0.994;0.947|.	T|T	0.74070|0.74070	-0.3783|-0.3783	10|6	0.87932|0.87932	D|D	0|0	-11.8413|-11.8413	12.8214|12.8214	0.57696|0.57696	0.2856:0.7144:0.0:0.0|0.2856:0.7144:0.0:0.0	.|.	84;84;84|.	B2R649;P04035-2;P04035|.	.;.;HMDH_HUMAN|.	C|M	84|15	ENSP00000426745:R84C;ENSP00000287936:R84C;ENSP00000340816:R84C|.	ENSP00000287936:R84C|ENSP00000440782:T15M	R|T	+|+	1|2	0|0	HMGCR|HMGCR	74675518|74675518	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.679000|2.679000	0.46909|0.46909	2.505000|2.505000	0.84491|0.84491	0.591000|0.591000	0.81541|0.81541	CGT|ACG	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219877.2		+	ENST00000287936.4	Missense_Mutation	SNP	5 : 74639762 - 74639762 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	375	55
CLEC4M	10332	broad.mit.edu	37	19	7830519	7830519	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7830519C>T	ENST00000596707.1	+	3	147	c.147C>T	c.(145-147)ggC>ggT	p.G49G	CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000359059.5_Silent_p.G49G|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000327325.5_Intron|CLEC4M_ENST00000595496.1_Silent_p.G49G|CLEC4M_ENST00000394122.2_Intron|CLEC4M_ENST00000248228.4_Intron|CLEC4M_ENST00000357361.2_Intron|CLEC4M_ENST00000334806.5_Intron			Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	70					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						TTCTTCTTGGCCCAGTGTCCA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	105	104			NA	NA	19		NA											NA				7830519		2203	4300	6503	SO:0001819	synonymous_variant			AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938	10332	10332		C-type lectin domain containing, CD molecules	13523	protein-coding gene	gene with protein product		605872	CD299 antigen	CD209L, CD299	NA	10072769	Standard	NM_014257	NM_001144904	NA	Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000596707.1:c.147C>T	19.37:g.7830519C>T		NA	A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	37	CCDS59347.1																																																																																			CLEC4M-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461164.2		+	ENST00000596707.1	Silent	SNP	19 : 7830519 - 7830519 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	397	66
IQGAP3	128239	broad.mit.edu	37	1	156501021	156501021	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156501021G>A	ENST00000361170.2	-	33	4132	c.4122C>T	c.(4120-4122)gcC>gcT	p.A1374A		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1374					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTATGATATCGGCCAACAGCT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	124	128			NA	NA	1		NA											NA				156501021		2203	4300	6503	SO:0001819	synonymous_variant			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856	128239	128239			20669	protein-coding gene	gene with protein product					NA		Standard	NM_178229	NM_178229	NA	Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.4122C>T	1.37:g.156501021G>A		NA	Q5T3H8	37	CCDS1144.1																																																																																			IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080657.1		-	ENST00000361170.2	Silent	SNP	1 : 156501021 - 156501021 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	547	143
COL4A1	1282	broad.mit.edu	37	13	110853794	110853794	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:110853794C>A	ENST00000375820.4	-	19	1196	c.1075G>T	c.(1075-1077)Ggc>Tgc	p.G359C	COL4A1_ENST00000543140.1_Missense_Mutation_p.G359C	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	359	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTTTTGGGCCTGGCTCTCCT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	85	90			NA	NA	13		NA											NA				110853794		2203	4300	6503	SO:0001583	missense			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498	1282	1282		Collagens	2202	protein-coding gene	gene with protein product		120130			NA	3691802	Standard		NM_001845	NA	Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.1075G>T	13.37:g.110853794C>A	ENSP00000364979:p.Gly359Cys	NA	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	37	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	-	14.19	2.461247	0.43736	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198;ENST00000543140	D;D	0.99369	-5.53;-5.78	3.94	3.94	0.45596	.	0.073296	0.53938	D	0.000048	D	0.99588	0.9851	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97641	1.0148	10	0.87932	D	0	.	15.171	0.72872	0.0:1.0:0.0:0.0	.	359	P02462	CO4A1_HUMAN	C	348;359;359;359	ENSP00000364979:G359C;ENSP00000443348:G359C	ENSP00000364973:G348C	G	-	1	0	COL4A1	109651795	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	5.184000	0.65070	1.926000	0.55796	0.436000	0.28706	GGC	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045759.3		-	ENST00000375820.4	Missense_Mutation	SNP	13 : 110853794 - 110853794 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	57
CERK	64781	broad.mit.edu	37	22	47116880	47116880	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:47116880C>T	ENST00000216264.8	-	2	287	c.175G>A	c.(175-177)Gcc>Acc	p.A59T	CERK_ENST00000541677.1_5'UTR	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	59	Required for binding to sulfatide and phosphoinositides.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCCTCAACGGCGATGATCTCA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													198	179	185			NA	NA	22		NA											NA				47116880		2203	4300	6503	SO:0001583	missense			AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422	64781	64781			19256	protein-coding gene	gene with protein product		610307			NA	11956206, 11258795	Standard	NM_022766	NM_022766	NA	Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.175G>A	22.37:g.47116880C>T	ENSP00000216264:p.Ala59Thr	NA	A0JNT4|A8K611|Q9BYB3|Q9UGE5	37	CCDS14077.1	.	.	.	.	.	.	.	.	.	.	C	9.285	1.049190	0.19827	.	.	ENSG00000100422	ENST00000216264	T	0.17854	2.25	4.97	-6.69	0.01772	Pleckstrin homology domain (1);	0.773503	0.12547	N	0.459389	T	0.08537	0.0212	N	0.19112	0.55	0.30647	N	0.75581	B	0.18310	0.027	B	0.11329	0.006	T	0.32508	-0.9904	10	0.19590	T	0.45	-12.3365	12.5308	0.56113	0.1105:0.7122:0.0:0.1772	.	59	Q8TCT0	CERK1_HUMAN	T	59	ENSP00000216264:A59T	ENSP00000216264:A59T	A	-	1	0	CERK	45495544	0.456000	0.25744	0.004000	0.12327	0.304000	0.27724	-0.668000	0.05268	-1.512000	0.01791	-0.259000	0.10710	GCC	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317924.2		-	ENST00000216264.8	Missense_Mutation	SNP	22 : 47116880 - 47116880 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	786	135
CHMP7	91782	broad.mit.edu	37	8	23117774	23117774	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23117774A>G	ENST00000397677.1	+	10	1886	c.1238A>G	c.(1237-1239)aAc>aGc	p.N413S	CHMP7_ENST00000520102.1_3'UTR|CHMP7_ENST00000313219.7_Missense_Mutation_p.N413S	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	413					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity	p.P412fs*4(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		AGCGTGCCTAACCCTAGGATC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Deletion - Frameshift(1)	breast(1)											132	121	125			NA	NA	8		NA											NA				23117774		2203	4300	6503	SO:0001583	missense			BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457	91782	91782		Charged multivesicular body proteins	28439	protein-coding gene	gene with protein product		611130	CHMP family, member 7		NA	16856878	Standard	NM_152272	NM_152272	NA	Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.1238A>G	8.37:g.23117774A>G	ENSP00000380794:p.Asn413Ser	NA	B2RDT3|D3DSS1|Q8NDM1|Q9BT50	37	CCDS6040.1	.	.	.	.	.	.	.	.	.	.	A	4.748	0.139071	0.09083	.	.	ENSG00000147457	ENST00000397677;ENST00000313219	T;T	0.57107	0.42;0.42	5.44	-4.02	0.04034	.	1.434510	0.03399	N	0.203130	T	0.28101	0.0693	N	0.14661	0.345	0.09310	N	1	B	0.17038	0.02	B	0.12156	0.007	T	0.10064	-1.0646	10	0.10636	T	0.68	0.9774	3.5144	0.07719	0.3287:0.0:0.2761:0.3953	.	413	Q8WUX9	CHMP7_HUMAN	S	413	ENSP00000380794:N413S;ENSP00000324491:N413S	ENSP00000324491:N413S	N	+	2	0	CHMP7	23173719	0.019000	0.18553	0.839000	0.33178	0.990000	0.78478	0.070000	0.14573	-0.576000	0.05974	0.529000	0.55759	AAC	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254717.1		+	ENST00000397677.1	Missense_Mutation	SNP	8 : 23117774 - 23117774 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	724	134
FZD10	11211	broad.mit.edu	37	12	130647687	130647687	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130647687A>G	ENST00000539839.1	+	1	684	c.102A>G	c.(100-102)ccA>ccG	p.P34P	FZD10_ENST00000229030.4_Missense_Mutation_p.Q67R	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	0	FZ.				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GCAGCCATCCAGTTGCACGAG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	43	43			NA	NA	12		NA											NA				130647687		2203	4300	6503	SO:0001819	synonymous_variant			AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432	11211	11211		GPCR / Class F : Frizzled receptors, CD molecules	4039	protein-coding gene	gene with protein product		606147	frizzled (Drosophila) homolog 10, frizzled homolog 10 (Drosophila), frizzled 10, seven transmembrane spanning receptor, frizzled family receptor 10		NA	10448064	Standard		NM_007197	NA	Approved	CD350	uc001uii.3	Q9ULW2		ENST00000539839.1:c.102A>G	12.37:g.130647687A>G		NA		37		.	.	.	.	.	.	.	.	.	.	A	13.38	2.220771	0.39201	.	.	ENSG00000111432	ENST00000229030	T	0.75938	-0.98	4.4	4.4	0.53042	Frizzled domain (5);	0.068546	0.64402	U	0.000019	T	0.64023	0.2561	L	0.31526	0.94	0.52099	D	0.999948	B	0.11235	0.004	B	0.16289	0.015	T	0.62134	-0.6918	10	0.52906	T	0.07	.	13.6359	0.62223	1.0:0.0:0.0:0.0	.	67	Q9ULW2	FZD10_HUMAN	R	67	ENSP00000229030:Q67R	ENSP00000229030:Q67R	Q	+	2	0	FZD10	129213640	1.000000	0.71417	0.999000	0.59377	0.566000	0.35808	6.993000	0.76245	1.613000	0.50231	0.459000	0.35465	CAG	FZD10-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000399508.1		+	ENST00000539839.1	Silent	SNP	12 : 130647687 - 130647687 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	394	88
E2F4	1874	broad.mit.edu	37	16	67229844	67229844	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67229844G>T	ENST00000379378.3	+	7	1027	c.968G>T	c.(967-969)aGc>aTc	p.S323I		NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	323	Poly-Ser.				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		aacagtaacagcagcagTTCG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	67	66			NA	NA	16		NA											NA				67229844		2198	4300	6498	SO:0001583	missense			BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250	1874	1874			3118	protein-coding gene	gene with protein product		600659			NA	7958924, 7892279	Standard	NM_001950	NM_001950	NA	Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975	ENST00000379378.3:c.968G>T	16.37:g.67229844G>T	ENSP00000368686:p.Ser323Ile	NA	A6NGR8|B5BU56|Q12991|Q15328	37	CCDS32464.1	.	.	.	.	.	.	.	.	.	.	G	6.034	0.374558	0.11409	.	.	ENSG00000205250	ENST00000379378	D	0.82984	-1.67	3.78	-2.63	0.06133	.	1.239140	0.05425	N	0.544915	T	0.67449	0.2894	N	0.22421	0.69	0.09310	N	0.999998	B	0.12013	0.005	B	0.12156	0.007	T	0.48317	-0.9046	10	0.18710	T	0.47	0.0374	4.3173	0.11000	0.4512:0.3471:0.2017:0.0	.	323	Q16254	E2F4_HUMAN	I	323	ENSP00000368686:S323I	ENSP00000368686:S323I	S	+	2	0	E2F4	65787345	0.006000	0.16342	0.228000	0.23943	0.012000	0.07955	-0.660000	0.05317	-0.452000	0.07087	-0.140000	0.14226	AGC	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421565.1		+	ENST00000379378.3	Missense_Mutation	SNP	16 : 67229844 - 67229844 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	636	121
ZFP36L2	678	broad.mit.edu	37	2	43451467	43451467	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43451467G>A	ENST00000282388.3	-	2	1769	c.1476C>T	c.(1474-1476)tcC>tcT	p.S492S	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	492					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CTCAGTCGTCGGAGATGGAGA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													8	10	10			NA	NA	2		NA											NA				43451467		2162	4260	6422	SO:0001819	synonymous_variant			X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518	678	678		RING-type (C3HC4) zinc fingers	1108	protein-coding gene	gene with protein product		612053	zinc finger protein 36, C3H type-like 1, zinc finger protein 36, C3H type-like 2	BRF2	NA	7835719, 8545129, 14981510, 17172869	Standard	NM_006887	NM_006887	NA	Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.1476C>T	2.37:g.43451467G>A		NA	Q53TB4|Q9BSJ3	37	CCDS1811.1																																																																																			ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250513.2		-	ENST00000282388.3	Silent	SNP	2 : 43451467 - 43451467 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	87	20
EMR2	30817	broad.mit.edu	37	19	14863237	14863237	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14863237G>T	ENST00000315576.3	-	15	2143	c.1692C>A	c.(1690-1692)atC>atA	p.I564I	EMR2_ENST00000594294.1_Silent_p.I515I|EMR2_ENST00000353876.1_Silent_p.I471I|EMR2_ENST00000601345.1_Silent_p.I553I|EMR2_ENST00000594076.1_Silent_p.I471I|EMR2_ENST00000595839.1_Silent_p.I422I|EMR2_ENST00000392964.3_3'UTR|EMR2_ENST00000392965.3_Silent_p.I506I|EMR2_ENST00000353005.1_Silent_p.I422I|EMR2_ENST00000596991.2_Silent_p.I553I|EMR2_ENST00000346057.1_Silent_p.I515I|EMR2_ENST00000392967.2_Silent_p.I553I	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	564					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						TGGTGTTCTGGATGGCTTTAC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	111	117			NA	NA	19		NA											NA				14863237		2203	4300	6503	SO:0001819	synonymous_variant			AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507	30817	30817		CD molecules, -, GPCR / Class B : Orphans	3337	protein-coding gene	gene with protein product		606100	egf-like module containing, mucin-like, hormone receptor-like sequence 2		NA		Standard		NM_013447	NA	Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.1692C>A	19.37:g.14863237G>T		NA	E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	37	CCDS32935.1																																																																																			EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466502.2		-	ENST00000315576.3	Silent	SNP	19 : 14863237 - 14863237 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	57
GBX2	2637	broad.mit.edu	37	2	237076320	237076320	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237076320C>T	ENST00000306318.4	-	1	692	c.295G>A	c.(295-297)Gcg>Acg	p.A99T	AC079135.1_ENST00000483218.1_RNA|AC079135.1_ENST00000415226.1_RNA|GBX2_ENST00000551105.1_Missense_Mutation_p.A99T	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	99				LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241).		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GAGGTGAGCGCCATGCCCTGC	0.746		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	17	15			NA	NA	2		NA											NA				237076320		2145	4210	6355	SO:0001583	missense			AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505	2637	2637		Homeoboxes / ANTP class : HOXL subclass	4186	protein-coding gene	gene with protein product		601135	gastrulation brain homeo box 2		NA	9346236, 8838315	Standard	NM_001485	XM_005246071	NA	Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.295G>A	2.37:g.237076320C>T	ENSP00000302251:p.Ala99Thr	NA	B2RPH7|O43833|Q53RX5|Q9Y5Y1	37	CCDS2515.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478753	0.84747	.	.	ENSG00000168505	ENST00000306318;ENST00000551105	D	0.92446	-3.04	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.91250	0.7242	N	0.19112	0.55	0.58432	D	0.999999	D;B	0.76494	0.999;0.024	D;B	0.74023	0.982;0.007	D	0.88360	0.2987	10	0.15952	T	0.53	-13.0501	14.1461	0.65351	0.0:0.8486:0.1513:0.0	.	99;99	F8VY47;P52951	.;GBX2_HUMAN	T	99	ENSP00000302251:A99T	ENSP00000302251:A99T	A	-	1	0	GBX2	236741059	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.450000	0.44943	2.176000	0.68965	0.462000	0.41574	GCG	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257078.3		-	ENST00000306318.4	Missense_Mutation	SNP	2 : 237076320 - 237076320 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	178	28
POLQ	10721	broad.mit.edu	37	3	121258312	121258312	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121258312C>T	ENST00000264233.5	-	4	727	c.599G>A	c.(598-600)cGc>cAc	p.R200H		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	200	Helicase ATP-binding.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	p.R333H(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTCTATGAGGCGATTGATCAG	0.383		NA						DNA polymerases (catalytic subunits)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(152;907 1925 26081 31236 36904)							NA				1	Substitution - Missense(1)	large_intestine(1)											123	121	121			NA	NA	3		NA											NA				121258312		2203	4300	6503	SO:0001583	missense			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	10721	10721	2.7.7.7	DNA polymerases	9186	protein-coding gene	gene with protein product		604419			NA	10395804	Standard	NM_199420	NM_199420	NA	Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.599G>A	3.37:g.121258312C>T	ENSP00000264233:p.Arg200His	NA	O95160|Q6VMB5	37	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	35	5.426896	0.96131	.	.	ENSG00000051341	ENST00000264233;ENST00000393672	T	0.15603	2.41	5.97	5.97	0.96955	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.141423	0.64402	D	0.000008	T	0.41994	0.1183	M	0.67700	2.07	0.80722	D	1	D	0.62365	0.991	D	0.63381	0.914	T	0.08785	-1.0705	10	0.72032	D	0.01	.	20.4239	0.99064	0.0:1.0:0.0:0.0	.	200	O75417	DPOLQ_HUMAN	H	200;335	ENSP00000264233:R200H	ENSP00000264233:R200H	R	-	2	0	POLQ	122741002	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.738000	0.68613	2.828000	0.97474	0.655000	0.94253	CGC	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355097.1		-	ENST00000264233.5	Missense_Mutation	SNP	3 : 121258312 - 121258312 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	498	80
SNAP47	116841	broad.mit.edu	37	1	227954674	227954674	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227954674G>A	ENST00000366759.4	+	4	1552	c.1138G>A	c.(1138-1140)Ggc>Agc	p.G380S	SNAP47_ENST00000366760.1_Missense_Mutation_p.G138S|SNAP47_ENST00000315781.5_Missense_Mutation_p.G380S	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	380						endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGGGCTGATGGGCCGTACCCT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	60	63			NA	NA	1		NA											NA				227954674		2203	4300	6503	SO:0001583	missense			AY090635	CCDS1562.1	1q42.13	2013-10-11	2008-10-27	2008-10-27	ENSG00000143740	ENSG00000143740	116841	116841			30669	protein-coding gene	gene with protein product			chromosome 1 open reading frame 142	C1orf142	NA	16621800	Standard	NM_053052	NM_053052	NA	Approved	SVAP1, SNAP-47	uc001hrf.2	Q5SQN1	OTTHUMG00000037697	ENST00000366759.4:c.1138G>A	1.37:g.227954674G>A	ENSP00000355721:p.Gly380Ser	NA	B6EDE0|Q5HYB5|Q5TBZ3|Q8N558|Q8TB31|Q8TCW8|Q8WV46|Q96CQ3|Q96FE1|Q96I66|Q96NU3|Q9BT10|Q9BVB2	37	CCDS1562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.151|4.151	0.026409|0.026409	0.08054|0.08054	.|.	.|.	ENSG00000143740|ENSG00000143740	ENST00000418653;ENST00000426344|ENST00000366760;ENST00000366759;ENST00000315781	.|T;T;T	.|0.43294	.|0.95;2.27;2.25	4.52|4.52	3.57|3.57	0.40892|0.40892	.|.	0.400770|0.400770	0.25040|0.25040	N|N	0.033613|0.033613	T|T	0.32436|0.32436	0.0829|0.0829	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	.|B;B;B;P	.|0.36535	.|0.301;0.408;0.301;0.557	.|B;B;B;B	.|0.31191	.|0.117;0.077;0.117;0.125	T|T	0.13575|0.13575	-1.0504|-1.0504	6|10	.|0.29301	.|T	.|0.29	-16.4939|-16.4939	9.3542|9.3542	0.38157|0.38157	0.0:0.0:0.7865:0.2135|0.0:0.0:0.7865:0.2135	.|.	.|380;192;380;138	.|Q5SQN1;Q5TBZ4;Q5SQN1-2;Q5SQN1-4	.|SNP47_HUMAN;.;.;.	E|S	192;371|138;380;380	.|ENSP00000355722:G138S;ENSP00000355721:G380S;ENSP00000314157:G380S	.|ENSP00000314157:G380S	G|G	+|+	2|1	0|0	SNAP47|SNAP47	226021297|226021297	0.995000|0.995000	0.38212|0.38212	0.222000|0.222000	0.23844|0.23844	0.263000|0.263000	0.26337|0.26337	3.928000|3.928000	0.56506|0.56506	1.057000|1.057000	0.40506|0.40506	0.555000|0.555000	0.69702|0.69702	GGG|GGC	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091961.1		+	ENST00000366759.4	Missense_Mutation	SNP	1 : 227954674 - 227954674 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	282	69
PASK	23178	broad.mit.edu	37	2	242051830	242051830	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242051830G>A	ENST00000405260.1	-	15	4056	c.3358C>T	c.(3358-3360)Cgc>Tgc	p.R1120C	PASK_ENST00000475666.1_5'UTR|PASK_ENST00000358649.4_Missense_Mutation_p.R1127C|PASK_ENST00000539818.1_Missense_Mutation_p.R904C|PASK_ENST00000544142.1_Missense_Mutation_p.R934C|PASK_ENST00000234040.4_Missense_Mutation_p.R1120C	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1120	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	p.R1120C(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		TCCTTCAAGCGCAGGTATCCC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	prostate(2)											69	63	65			NA	NA	2		NA											NA				242051830		2203	4300	6503	SO:0001583	missense			U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687	23178	23178			17270	protein-coding gene	gene with protein product		607505			NA	11688972, 11459942, 15148392	Standard	NM_015148	NM_001252119	NA	Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.3358C>T	2.37:g.242051830G>A	ENSP00000384016:p.Arg1120Cys	NA	Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	37	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.158454	0.57368	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.8	5.8	0.92144	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.236607	0.29730	N	0.011349	T	0.73776	0.3630	L	0.37697	1.125	0.47737	D	0.999505	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.78314	0.991;0.979;0.979;0.991	T	0.75121	-0.3429	10	0.87932	D	0	.	20.0706	0.97721	0.0:0.0:1.0:0.0	.	1085;934;1127;1120	B7Z7R6;F5GYW7;Q96RG2-2;Q96RG2	.;.;.;PASK_HUMAN	C	1120;934;1120;1127;904	ENSP00000234040:R1120C;ENSP00000441374:R934C;ENSP00000384016:R1120C;ENSP00000351475:R1127C;ENSP00000443083:R904C	ENSP00000234040:R1120C	R	-	1	0	PASK	241700503	1.000000	0.71417	0.926000	0.36857	0.043000	0.13939	7.039000	0.76544	2.744000	0.94065	0.655000	0.94253	CGC	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323753.1		-	ENST00000405260.1	Missense_Mutation	SNP	2 : 242051830 - 242051830 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	246	59
DHX8	1659	broad.mit.edu	37	17	41599414	41599414	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41599414G>T	ENST00000262415.3	+	22	3335		c.e22-1		DHX8_ENST00000540306.1_Splice_Site	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	NA						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TATCTTGATAGACACAAGCTG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(56;1548 1661 49258 49987)							NA				0													190	179	183			NA	NA	17		NA											NA				41599414		2203	4300	6503	SO:0001630	splice_region_variant			D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596	1659	1659		DEAH-boxes	2749	protein-coding gene	gene with protein product		600396	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)	DDX8	NA	7935475	Standard		NM_004941	NA	Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.3264-1G>T	17.37:g.41599414G>T		NA		37	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662375	0.88251	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7186	0.91685	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DHX8	38954940	1.000000	0.71417	0.996000	0.52242	0.931000	0.56810	7.992000	0.88273	2.735000	0.93741	0.655000	0.94253	.	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453485.1	Intron	+	ENST00000262415.3	Splice_Site	SNP	17 : 41599414 - 41599414 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1132	189
ATP1A4	480	broad.mit.edu	37	1	160141048	160141048	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160141048T>C	ENST00000368081.4	+	11	1970	c.1499T>C	c.(1498-1500)aTc>aCc	p.I500T		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	500					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TAGATGTCCATCCACCTTCGG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	127	127			NA	NA	1		NA											NA				160141048		2203	4300	6503	SO:0001583	missense			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681	480	480		ATPases / P-type	14073	protein-coding gene	gene with protein product	sodium/potassium-transporting ATPase subunit alpha-4, sodium pump subunit alpha-4, sodium-potassium ATPase catalytic subunit alpha-4	607321	ATPase, Na+/K+ transporting, alpha polypeptide-like 2	ATP1AL2	NA	1981991, 3035563	Standard	NM_144699	NM_144699	NA	Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.1499T>C	1.37:g.160141048T>C	ENSP00000357060:p.Ile500Thr	NA	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	37	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	T	10.37	1.330839	0.24167	.	.	ENSG00000132681	ENST00000368081	T	0.80738	-1.41	4.29	4.29	0.51040	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.052036	0.64402	D	0.000001	D	0.83649	0.5300	M	0.64567	1.98	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	D	0.85949	0.1463	10	0.87932	D	0	.	11.7097	0.51618	0.0:0.0:0.0:1.0	.	500	Q13733	AT1A4_HUMAN	T	500	ENSP00000357060:I500T	ENSP00000357060:I500T	I	+	2	0	ATP1A4	158407672	1.000000	0.71417	1.000000	0.80357	0.214000	0.24535	5.963000	0.70372	1.921000	0.55644	0.533000	0.62120	ATC	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077415.1		+	ENST00000368081.4	Missense_Mutation	SNP	1 : 160141048 - 160141048 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	763	185
PARP6	56965	broad.mit.edu	37	15	72557756	72557756	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72557756C>T	ENST00000569795.1	-	6	922	c.235G>A	c.(235-237)Gat>Aat	p.D79N	PARP6_ENST00000287196.9_Missense_Mutation_p.D79N|PARP6_ENST00000260376.7_Missense_Mutation_p.D79N|PARP6_ENST00000413097.2_5'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	79							NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CCACTTACATCGAGGAAGCTG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	129	130			NA	NA	15		NA											NA				72557756		1995	4169	6164	SO:0001583	missense			AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817	56965	56965		Poly (ADP-ribose) polymerases	26921	protein-coding gene	gene with protein product					NA	15273990	Standard	NM_020214	XM_005254557	NA	Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.235G>A	15.37:g.72557756C>T	ENSP00000456348:p.Asp79Asn	NA	Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	37	CCDS10241.2	.	.	.	.	.	.	.	.	.	.	C	36	5.649327	0.96714	.	.	ENSG00000137817	ENST00000419739;ENST00000287196;ENST00000260376;ENST00000336471	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.68476	0.3005	L	0.36672	1.1	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.99	T	0.66716	-0.5853	9	0.39692	T	0.17	-15.8467	18.1292	0.89596	0.0:1.0:0.0:0.0	.	79;79	Q0VDG0;Q2NL67	.;PARP6_HUMAN	N	79	.	ENSP00000260376:D79N	D	-	1	0	PARP6	70344810	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.533000	0.85409	0.563000	0.77884	GAT	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257315.2		-	ENST00000569795.1	Missense_Mutation	SNP	15 : 72557756 - 72557756 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	341	31
ZC3H10	84872	broad.mit.edu	37	12	56515509	56515509	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56515509C>A	ENST00000257940.2	+	3	1439	c.1163C>A	c.(1162-1164)gCt>gAt	p.A388D	RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	388	Pro-rich.						nucleic acid binding|zinc ion binding			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			GCTCCTGTGGCTGTATCTGTG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	97	106			NA	NA	12		NA											NA				56515509		2203	4300	6503	SO:0001583	missense			BC018708	CCDS8903.1	12q13.2	2012-07-05	2005-06-02	2005-06-02		ENSG00000135482	84872	84872		Zinc fingers, CCCH-type domain containing	25893	protein-coding gene	gene with protein product			zinc finger CCCH-type domain containing 10	ZC3HDC10	NA	12477932	Standard	NM_032786	NM_032786	NA	Approved	FLJ14451	uc001sjp.1	Q96K80		ENST00000257940.2:c.1163C>A	12.37:g.56515509C>A	ENSP00000257940:p.Ala388Asp	NA		37	CCDS8903.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.986954	0.53934	.	.	ENSG00000135482	ENST00000257940	.	.	.	5.63	4.75	0.60458	.	0.131035	0.49305	D	0.000153	T	0.38665	0.1049	N	0.19112	0.55	0.80722	D	1	P	0.44627	0.839	B	0.37346	0.247	T	0.44952	-0.9294	9	0.72032	D	0.01	-10.0065	16.0428	0.80695	0.0:0.8651:0.1349:0.0	.	388	Q96K80	ZC3HA_HUMAN	D	388	.	ENSP00000257940:A388D	A	+	2	0	ZC3H10	54801776	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	5.510000	0.67018	1.540000	0.49301	-0.127000	0.14921	GCT	ZC3H10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407826.1		+	ENST00000257940.2	Missense_Mutation	SNP	12 : 56515509 - 56515509 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	34
AHNAK	79026	broad.mit.edu	37	11	62285755	62285755	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62285755A>G	ENST00000378024.4	-	5	16408	c.16134T>C	c.(16132-16134)ggT>ggC	p.G5378G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5378					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATTTGATGTCACCAGAGACAG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	83	89			NA	NA	11		NA											NA				62285755		2202	4299	6501	SO:0001819	synonymous_variant			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942	79026	79026			347	protein-coding gene	gene with protein product	desmoyokin	103390	AHNAK nucleoprotein (desmoyokin)		NA	7987395, 12153988	Standard	NM_024060	NM_024060	NA	Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.16134T>C	11.37:g.62285755A>G		NA		37	CCDS31584.1																																																																																			AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395572.1		-	ENST00000378024.4	Silent	SNP	11 : 62285755 - 62285755 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	82
NRXN3	9369	broad.mit.edu	37	14	79175616	79175616	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:79175616G>A	ENST00000554719.1	+	4	650	c.159G>A	c.(157-159)gcG>gcA	p.A53A	RP11-232C2.2_ENST00000555680.1_RNA|NRXN3_ENST00000335750.5_Silent_p.A53A	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane		p.A53A(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCCGGATTGCGGACACCAAGA	0.463		NA											G	1	5e-04	NA	NA	2184	NA	1	,	,	NA	2e-04	0.0013	NA	NA	5e-04	1	EXOME	NA	NA	0.0019	SNP								NA				1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											92	92	92			NA	NA	14		NA											NA				79175616		2203	4300	6503	SO:0001819	synonymous_variant			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645	9369	9369			8010	protein-coding gene	gene with protein product		600567	chromosome 14 open reading frame 60	C14orf60	NA	11944992, 12379233	Standard	NM_001105250	NM_004796	NA	Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.159G>A	14.37:g.79175616G>A		NA	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	37	CCDS9870.1																																																																																			NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413787.1		+	ENST00000554719.1	Silent	SNP	14 : 79175616 - 79175616 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	428	75
SETD8	387893	broad.mit.edu	37	12	123889552	123889552	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123889552C>T	ENST00000402868.3	+	7	1205	c.779C>T	c.(778-780)gCt>gTt	p.A260V	SETD8_ENST00000330479.4_Missense_Mutation_p.A260V			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	301	SET.				cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		AAACGGGAGGCTCTGTACGCA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	48	49			NA	NA	12		NA											NA				123889552		2203	4297	6500	SO:0001583	missense			AY102937	CCDS9247.1	12q24.31	2011-07-01			ENSG00000183955	ENSG00000183955	387893	387893		Chromatin-modifying enzymes / K-methyltransferases	29489	protein-coding gene	gene with protein product		607240			NA	15933070, 12086618, 12121615	Standard	NM_020382	NM_020382	NA	Approved	SET8, SET07, PR-Set7, KMT5A	uc001uew.3	Q9NQR1	OTTHUMG00000150477	ENST00000402868.3:c.779C>T	12.37:g.123889552C>T	ENSP00000384629:p.Ala260Val	NA	A8K9D0|Q86W83|Q8TD09	37	CCDS9247.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.708942	0.89018	.	.	ENSG00000183955	ENST00000402868;ENST00000330479;ENST00000437502	D;D;D	0.85773	-2.03;-2.03;-2.03	5.02	5.02	0.67125	SET domain (3);	0.046821	0.85682	D	0.000000	T	0.78285	0.4259	L	0.31804	0.96	0.80722	D	1	P;P	0.36438	0.553;0.498	B;B	0.30943	0.122;0.074	T	0.80202	-0.1480	10	0.54805	T	0.06	-12.6544	18.7023	0.91625	0.0:1.0:0.0:0.0	.	301;260	Q9NQR1;Q9NQR1-2	SETD8_HUMAN;.	V	260;260;251	ENSP00000384629:A260V;ENSP00000332995:A260V;ENSP00000413811:A251V	ENSP00000332995:A260V	A	+	2	0	SETD8	122455505	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.050000	0.71063	2.492000	0.84095	0.655000	0.94253	GCT	SETD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318263.1		+	ENST00000402868.3	Missense_Mutation	SNP	12 : 123889552 - 123889552 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	48
NCKAP1	10787	broad.mit.edu	37	2	183850942	183850942	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183850942T>C	ENST00000361354.4	-	10	1333	c.961A>G	c.(961-963)Att>Gtt	p.I321V	NCKAP1_ENST00000360982.2_Missense_Mutation_p.I327V	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	NA					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATGTCATTAATACGTTTATTA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	62	62			NA	NA	2		NA											NA				183850942		2203	4300	6503	SO:0001583	missense			AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676	10787	10787			7666	protein-coding gene	gene with protein product		604891			NA	10673335, 12181570, 9344857	Standard	NM_205842	NM_013436	NA	Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.961A>G	2.37:g.183850942T>C	ENSP00000355348:p.Ile321Val	NA	O60329|Q53QN5|Q53S94|Q53Y35	37	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	T	9.687	1.150960	0.21371	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.30182	1.54;1.54	5.51	5.51	0.81932	.	0.045134	0.85682	D	0.000000	T	0.17323	0.0416	N	0.13327	0.33	0.58432	D	0.999997	B;B	0.18166	0.026;0.012	B;B	0.17979	0.02;0.012	T	0.06023	-1.0850	10	0.05721	T	0.95	-12.7699	14.7984	0.69894	0.0:0.0:0.0:1.0	.	321;327	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	V	321;327	ENSP00000355348:I321V;ENSP00000354251:I327V	ENSP00000354251:I327V	I	-	1	0	NCKAP1	183559187	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.654000	0.61469	2.106000	0.64143	0.402000	0.26972	ATT	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255867.2		-	ENST00000361354.4	Missense_Mutation	SNP	2 : 183850942 - 183850942 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	222	40
MUSK	4593	broad.mit.edu	37	9	113509922	113509922	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113509922T>G	ENST00000416899.2	+	7	881	c.755T>G	c.(754-756)gTt>gGt	p.V252G	MUSK_ENST00000374448.4_Splice_Site_p.V252G|MUSK_ENST00000189978.5_Splice_Site_p.V252G			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	252	Ig-like 3.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CTCTGTCAGGTTTCTTCTGGG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	145	148			NA	NA	9		NA											NA				113509922		1861	4116	5977	SO:0001630	splice_region_variant			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304	4593	4593		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	7525	protein-coding gene	gene with protein product		601296			NA	7546737	Standard		NM_005592	NA	Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000416899.2:c.754-1T>G	9.37:g.113509922T>G		NA	Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	37		.	.	.	.	.	.	.	.	.	.	T	18.18	3.565685	0.65651	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	T	0.14144	2.53	5.78	4.63	0.57726	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.171752	0.51477	N	0.000083	T	0.36744	0.0978	M	0.79123	2.44	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.989	T	0.14504	-1.0470	10	0.87932	D	0	.	11.383	0.49768	0.0:0.0:0.1518:0.8482	.	252;262	O15146;F5H6T2	MUSK_HUMAN;.	G	252;252;252;262;262;252	ENSP00000363571:V252G	ENSP00000189978:V252G	V	+	2	0	MUSK	112549743	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	3.359000	0.52292	0.994000	0.38892	0.533000	0.62120	GTT	MUSK-002	NOVEL	non_canonical_TEC|not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000053628.2	Missense_Mutation	+	ENST00000416899.2	Splice_Site	SNP	9 : 113509922 - 113509922 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	696	32
GAS6	2621	broad.mit.edu	37	13	114530064	114530064	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114530064G>A	ENST00000327773.6	-	12	1528	c.1382C>T	c.(1381-1383)aCg>aTg	p.T461M	GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000355761.4_Missense_Mutation_p.T407M|GAS6_ENST00000357389.3_Missense_Mutation_p.T504M|GAS6_ENST00000418959.3_Missense_Mutation_p.T162M|GAS6_ENST00000450766.1_Missense_Mutation_p.T188M	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	504	Laminin G-like 1.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CACTTTCACCGTTTCCTGGAT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	183	140	155		1382,563,485	3.5	0	13		155	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	GAS6	NM_000820.2,NM_001143945.1,NM_001143946.1	81,81,81	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	461/679,188/406,162/380	114530064	1,13005	2203	4300	6503	SO:0001583	missense				CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087	2621	2621			4168	protein-coding gene	gene with protein product	AXL stimulatory factor	600441		AXLLG	NA	8336730	Standard	NM_000820	NM_000820	NA	Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.1382C>T	13.37:g.114530064G>A	ENSP00000331831:p.Thr461Met	NA	Q6IMN1|Q7Z7N3	37	CCDS45072.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.516076	0.27123	0.0	1.16E-4	ENSG00000183087	ENST00000357389;ENST00000355761;ENST00000450766;ENST00000418959;ENST00000327773	D;D;D;D;D	0.91011	-2.77;-2.36;-2.09;-2.1;-2.77	4.55	3.46	0.39613	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	D	0.92993	0.7770	M	0.72479	2.2	0.58432	D	0.999991	D;D;D	0.76494	0.999;0.994;0.979	P;P;P	0.60949	0.881;0.619;0.653	D	0.92439	0.5960	9	0.48119	T	0.1	-19.8378	11.4483	0.50136	0.1599:0.0:0.8401:0.0	.	504;188;461	Q14393;B3KVL4;Q14393-2	GAS6_HUMAN;.;.	M	504;407;188;162;461	ENSP00000349962:T504M;ENSP00000348003:T407M;ENSP00000416498:T188M;ENSP00000400117:T162M;ENSP00000331831:T461M	ENSP00000331831:T461M	T	-	2	0	GAS6	113583879	1.000000	0.71417	0.041000	0.18516	0.008000	0.06430	5.680000	0.68168	2.067000	0.61834	0.462000	0.41574	ACG	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045946.2		-	ENST00000327773.6	Missense_Mutation	SNP	13 : 114530064 - 114530064 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	430	63
OSMR	9180	broad.mit.edu	37	5	38923316	38923316	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38923316T>A	ENST00000274276.3	+	13	2232	c.1830T>A	c.(1828-1830)gcT>gcA	p.A610A		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	610	Fibronectin type-III 3.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					AAAGGATTGCTTGTTTATTAG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	82	81			NA	NA	5		NA											NA				38923316		2203	4300	6503	SO:0001819	synonymous_variant			U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623	9180	9180		Fibronectin type III domain containing	8507	protein-coding gene	gene with protein product		601743			NA	8999038	Standard	NM_003999	NM_001168355	NA	Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.1830T>A	5.37:g.38923316T>A		NA	Q6P4E8|Q96QJ6	37	CCDS3928.1																																																																																			OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207609.2		+	ENST00000274276.3	Silent	SNP	5 : 38923316 - 38923316 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	387	73
SH2D3A	10045	broad.mit.edu	37	19	6754363	6754363	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6754363C>T	ENST00000245908.6	-	7	1440	c.1171G>A	c.(1171-1173)Gca>Aca	p.A391T	SH2D3A_ENST00000437152.3_Missense_Mutation_p.A269T	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	391					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						CCCCTCAGTGCGGCTGCGCGC	0.751		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													4	6	5			NA	NA	19		NA											NA				6754363		1867	3774	5641	SO:0001583	missense			AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731	10045	10045		SH2 domain containing	16885	protein-coding gene	gene with protein product		604721	SH2 domain-containing 3A		NA	10187783	Standard	NM_005490	NM_005490	NA	Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.1171G>A	19.37:g.6754363C>T	ENSP00000245908:p.Ala391Thr	NA	A8K9R6|Q9Y2X4	37	CCDS12173.1	.	.	.	.	.	.	.	.	.	.	C	1.228	-0.624921	0.03636	.	.	ENSG00000125731	ENST00000245908;ENST00000437152	T;T	0.28666	1.62;1.6	4.9	1.3	0.21679	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.450276	0.18831	N	0.129962	T	0.06735	0.0172	N	0.01352	-0.895	0.25151	N	0.990424	B;B	0.27450	0.179;0.013	B;B	0.15484	0.013;0.011	T	0.27434	-1.0074	10	0.09338	T	0.73	-1.1375	2.6013	0.04867	0.2148:0.3824:0.0:0.4028	.	269;391	B4DRS7;Q9BRG2	.;SH23A_HUMAN	T	391;269	ENSP00000245908:A391T;ENSP00000393303:A269T	ENSP00000245908:A391T	A	-	1	0	SH2D3A	6705363	0.001000	0.12720	0.991000	0.47740	0.226000	0.24999	0.199000	0.17237	0.486000	0.27676	0.462000	0.41574	GCA	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458016.1		-	ENST00000245908.6	Missense_Mutation	SNP	19 : 6754363 - 6754363 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	53	8
BRICD5	283870	broad.mit.edu	37	16	2259442	2259442	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2259442C>T	ENST00000328540.3	-	6	1724	c.608G>A	c.(607-609)cGg>cAg	p.R203Q	BRICD5_ENST00000562360.1_Missense_Mutation_p.R235Q	NM_182563.3	NP_872369.2			BRICHOS domain containing 5	NA											NA						ATAAATCAGCCGCTGTCTCCG	0.637		NA											c	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	EXOME	NA	NA	5e-04	SNP								NA				0								T	GLN/ARG	0,4396		0,0,2198	55	56	56		608	5	1	16		56	3,8597	3.0+/-9.4	0,3,4297	yes	missense	C16orf79	NM_182563.3	43	0,3,6495	TT,TC,CC	NA	0.0349,0.0,0.0231	probably-damaging	203/229	2259442	3,12993	2198	4300	6498	SO:0001583	missense			BC039154	CCDS10463.1	16p13.3	2012-10-10	2012-10-10	2012-10-10	ENSG00000182685	ENSG00000182685	283870	283870		BRICHOS domain containing	28309	protein-coding gene	gene with protein product			chromosome 16 open reading frame 79	C16orf79	NA	12477932	Standard	NM_182563	NM_182563	NA	Approved	MGC21830	uc002cpi.2	Q6PL45	OTTHUMG00000128831	ENST00000328540.3:c.608G>A	16.37:g.2259442C>T	ENSP00000332389:p.Arg203Gln	NA		37	CCDS10463.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	21.9	4.221581	0.79464	0.0	3.49E-4	ENSG00000182685	ENST00000328540	T	0.35421	1.31	5.95	5.01	0.66863	.	0.065248	0.64402	N	0.000018	T	0.60996	0.2312	.	.	.	0.80722	D	1	D;D	0.89917	0.983;1.0	P;D	0.91635	0.449;0.999	T	0.65467	-0.6161	9	0.59425	D	0.04	-12.2879	14.1573	0.65426	0.0:0.9276:0.0:0.0724	.	235;203	Q6PL45;Q6PL45-2	CP079_HUMAN;.	Q	203	ENSP00000332389:R203Q	ENSP00000332389:R203Q	R	-	2	0	C16orf79	2199443	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	3.807000	0.55591	1.539000	0.49286	-0.119000	0.15052	CGG	BRICD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250769.2		-	ENST00000328540.3	Missense_Mutation	SNP	16 : 2259442 - 2259442 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	461	17
GBE1	2632	broad.mit.edu	37	3	81810581	81810581	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:81810581T>C	ENST00000429644.2	-	1	731	c.88A>G	c.(88-90)Aga>Gga	p.R30G		NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	30					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		TCCAGGAGTCTGGCCAGTTCG	0.677		NA							Glycogen Storage Disease, type IV					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	49	46			NA	NA	3		NA											NA				81810581		2032	4166	6198	SO:0001583	missense	Familial Cancer Database	Andersen Disease, Brancher deficiency		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2632	2632	2.4.1.18		4180	protein-coding gene	gene with protein product	glycogen branching enzyme, Andersen disease, glycogen storage disease type IV	607839			NA	8463281	Standard		NM_000158	NA	Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.88A>G	3.37:g.81810581T>C	ENSP00000410833:p.Arg30Gly	NA	Q96EN0	37	CCDS54612.1	.	.	.	.	.	.	.	.	.	.	T	7.770	0.707351	0.15239	.	.	ENSG00000114480	ENST00000429644;ENST00000264326	T	0.16897	2.31	3.75	1.78	0.24846	.	0.582540	0.16218	U	0.224159	T	0.06917	0.0176	N	0.11064	0.09	0.21445	N	0.999682	B	0.11235	0.004	B	0.15484	0.013	T	0.41680	-0.9495	10	0.02654	T	1	-7.4281	8.5349	0.33357	0.0:0.0:0.5115:0.4885	.	30	Q04446	GLGB_HUMAN	G	30;81	ENSP00000410833:R30G	ENSP00000264326:R81G	R	-	1	2	GBE1	81893271	0.004000	0.15560	0.010000	0.14722	0.719000	0.41307	0.293000	0.19029	0.284000	0.22305	0.379000	0.24179	AGA	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352760.2		-	ENST00000429644.2	Missense_Mutation	SNP	3 : 81810581 - 81810581 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	372	68
FURIN	5045	broad.mit.edu	37	15	91424215	91424215	+	Silent	SNP	C	C	T	rs146566561	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91424215C>T	ENST00000268171.3	+	15	2016	c.1737C>T	c.(1735-1737)ccC>ccT	p.P579P		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	579	Cys-rich.				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			AGGGGCTGCCCGTACCTCCAG	0.622		NA											C	3	0.0014	0.0041	NA	2184	0.0017	0.9995	,	,	NA	5e-04	NA	NA	NA	0.0012	0.8553	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0								C		4,4392	8.1+/-20.4	0,4,2194	87	94	92		1737	-5.9	0	15	dbSNP_134	92	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	FURIN	NM_002569.2		0,5,6491	TT,TC,CC	NA	0.0116,0.091,0.0385		579/795	91424215	5,12987	2198	4298	6496	SO:0001819	synonymous_variant			X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564	5045	5045			8568	protein-coding gene	gene with protein product		136950	paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)	PCSK3, FUR, PACE	NA	2251280, 1741956	Standard	NM_002569	NM_002569	NA	Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.1737C>T	15.37:g.91424215C>T		NA	Q14336|Q6LBS3|Q9UCZ5	37	CCDS10364.1																																																																																			FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313492.1		+	ENST00000268171.3	Silent	SNP	15 : 91424215 - 91424215 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	625	48
GALNT13	114805	broad.mit.edu	37	2	154996996	154996996	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:154996996C>T	ENST00000392825.3	+	4	856	c.289C>T	c.(289-291)Ctg>Ttg	p.L97L	GALNT13_ENST00000409237.1_Silent_p.L97L	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	97						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TAATAGAAGTCTGCCAGATGT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	94	93			NA	NA	2		NA											NA				154996996		2203	4300	6503	SO:0001819	synonymous_variant			AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	114805	114805	2.4.1.41	Glycosyltransferase family 2 domain containing	23242	protein-coding gene	gene with protein product	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13, polypeptide GalNAc transferase 13	608369	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)		NA	11572484, 12407114	Standard	NM_052917	XM_005246267	NA	Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.289C>T	2.37:g.154996996C>T		NA	Q6ZWG1|Q96PX0|Q9UIE5	37	CCDS2199.1																																																																																			GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254870.2		+	ENST00000392825.3	Silent	SNP	2 : 154996996 - 154996996 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	53
NIPBL	25836	broad.mit.edu	37	5	37020568	37020568	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37020568G>A	ENST00000282516.8	+	26	5517	c.5018G>A	c.(5017-5019)cGt>cAt	p.R1673H	NIPBL_ENST00000448238.2_Missense_Mutation_p.R1673H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1673					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAGTTTTCTCGTAAATTCTAT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	62	64			NA	NA	5		NA											NA				37020568		2203	4297	6500	SO:0001583	missense			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190	25836	25836			28862	protein-coding gene	gene with protein product	sister chromatid cohesion 2 homolog (yeast)	608667			NA	15146186, 15146185	Standard	NM_015384	NM_133433	NA	Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.5018G>A	5.37:g.37020568G>A	ENSP00000282516:p.Arg1673His	NA	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592420	0.86953	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.94280	-3.39;-3.39	5.59	5.59	0.84812	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.94407	0.8201	M	0.69523	2.12	0.58432	D	0.999998	P;D	0.55385	0.915;0.971	B;P	0.49451	0.406;0.611	D	0.93068	0.6480	10	0.31617	T	0.26	.	19.5885	0.95498	0.0:0.0:1.0:0.0	.	1673;1673	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	H	1673	ENSP00000282516:R1673H;ENSP00000406266:R1673H	ENSP00000282516:R1673H	R	+	2	0	NIPBL	37056325	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.403000	0.73264	2.647000	0.89833	0.585000	0.79938	CGT	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207582.1		+	ENST00000282516.8	Missense_Mutation	SNP	5 : 37020568 - 37020568 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	219	31
AFF2	2334	broad.mit.edu	37	X	147744092	147744092	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:147744092C>T	ENST00000370460.2	+	3	1323	c.844C>T	c.(844-846)Cag>Tag	p.Q282*	AFF2_ENST00000342251.3_Nonsense_Mutation_p.Q278*|AFF2_ENST00000370458.1_Nonsense_Mutation_p.Q278*|AFF2_ENST00000370457.5_Nonsense_Mutation_p.Q278*	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	282					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCATGGGGCAGCAAAAGCC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	91	92			NA	NA	X		NA											NA				147744092		2203	4300	6503	SO:0001587	stop_gained			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966	2334	2334			3776	protein-coding gene	gene with protein product		300806	fragile X mental retardation 2	FMR2	NA		Standard	NM_002025	NM_002025	NA	Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.844C>T	X.37:g.147744092C>T	ENSP00000359489:p.Gln282*	NA	A2RTY4|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	37	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	42	9.387678	0.99156	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.814	0.92070	0.0:1.0:0.0:0.0	.	.	.	.	X	282;278;278;278	.	ENSP00000345459:Q278X	Q	+	1	0	AFF2	147551784	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.329000	0.79170	2.389000	0.81357	0.600000	0.82982	CAG	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058673.2		+	ENST00000370460.2	Nonsense_Mutation	SNP	X : 147744092 - 147744092 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	499	162
OR2D2	120776	broad.mit.edu	37	11	6913214	6913214	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6913214C>T	ENST00000299459.2	-	1	616	c.518G>A	c.(517-519)aGc>aAc	p.S173N		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATGAGCAATGCTGTTACTGCC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	86	93			NA	NA	11		NA											NA				6913214		2201	4296	6497	SO:0001583	missense			AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368	120776	120776		GPCR / Class A : Olfactory receptors	8244	protein-coding gene	gene with protein product		608494		OR2D1	NA	9787077	Standard	NM_003700	NM_003700	NA	Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.518G>A	11.37:g.6913214C>T	ENSP00000299459:p.Ser173Asn	NA	B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	37	CCDS31416.1	.	.	.	.	.	.	.	.	.	.	c	0.987	-0.695286	0.03303	.	.	ENSG00000166368	ENST00000299459	T	0.00107	8.72	5.12	-8.63	0.00878	GPCR, rhodopsin-like superfamily (1);	0.510233	0.18384	N	0.142866	T	0.00073	0.0002	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.47407	-0.9120	10	0.25751	T	0.34	-1.6953	0.3389	0.00330	0.2455:0.2205:0.1771:0.3569	.	173	Q9H210	OR2D2_HUMAN	N	173	ENSP00000299459:S173N	ENSP00000299459:S173N	S	-	2	0	OR2D2	6869790	0.000000	0.05858	0.000000	0.03702	0.292000	0.27327	-2.039000	0.01418	-2.057000	0.00897	-1.792000	0.00626	AGC	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385986.1		-	ENST00000299459.2	Missense_Mutation	SNP	11 : 6913214 - 6913214 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	299	65
INO80B	83444	broad.mit.edu	37	2	74682672	74682672	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74682672G>T	ENST00000233331.7	+	2	292	c.198G>T	c.(196-198)aaG>aaT	p.K66N	INO80B_ENST00000409917.1_Missense_Mutation_p.K66N|INO80B_ENST00000469849.1_Intron	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	66					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						CCCCTGCCAAGCCTCAGCTCA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	57	52			NA	NA	2		NA											NA				74682672		2203	4300	6503	SO:0001583	missense			AB054538	CCDS1942.2	2p13.1	2011-07-06	2008-08-07	2008-08-07	ENSG00000115274	ENSG00000115274	83444	83444		Zinc fingers, HIT-type, INO80 complex subunits	13324	protein-coding gene	gene with protein product	PAP-1 binding protein, IES2 homolog (S. cerevisiae)		high mobility group AT-hook 1-like 4, zinc finger, HIT type 4	HMGA1L4, ZNHIT4	NA	16230350	Standard	NM_031288	NM_031288	NA	Approved	HMGIYL4, PAPA-1, hIes2, PAP-1BP, IES2	uc002slg.3	Q9C086	OTTHUMG00000129959	ENST00000233331.7:c.198G>T	2.37:g.74682672G>T	ENSP00000233331:p.Lys66Asn	NA		37	CCDS1942.2	.	.	.	.	.	.	.	.	.	.	G	15.47	2.841789	0.51057	.	.	ENSG00000115274	ENST00000233331;ENST00000431187;ENST00000409917;ENST00000409493	T;T;T;T	0.50001	0.77;0.76;0.78;0.76	5.56	3.7	0.42460	.	0.242001	0.40469	N	0.001081	T	0.34513	0.0900	L	0.39898	1.24	0.36444	D	0.865667	B;B;B;B	0.32245	0.361;0.037;0.037;0.022	B;B;B;B	0.29942	0.109;0.017;0.017;0.037	T	0.36720	-0.9736	10	0.31617	T	0.26	-18.2847	8.6538	0.34051	0.0806:0.0:0.7685:0.1508	.	84;66;66;66	B4DJ31;B4DJ22;Q9C086;B8ZZ93	.;.;IN80B_HUMAN;.	N	66;66;66;71	ENSP00000233331:K66N;ENSP00000389887:K66N;ENSP00000387267:K66N;ENSP00000386937:K71N	ENSP00000233331:K66N	K	+	3	2	INO80B	74536180	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	1.354000	0.34056	1.353000	0.45828	0.563000	0.77884	AAG	INO80B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252223.2		+	ENST00000233331.7	Missense_Mutation	SNP	2 : 74682672 - 74682672 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	11
TSC22D1	8848	broad.mit.edu	37	13	45149075	45149075	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:45149075C>T	ENST00000458659.2	-	1	1626	c.1136G>A	c.(1135-1137)aGc>aAc	p.S379N	TSC22D1_ENST00000501704.2_Missense_Mutation_p.S379N	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	379					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		AGGAACACTGCTAACAGCAGC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	93	98			NA	NA	13		NA											NA				45149075		2203	4300	6503	SO:0001583	missense			AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804	8848	8848			16826	protein-coding gene	gene with protein product		607715	transforming growth factor beta 1 induced transcript 4	TGFB1I4	NA	8651929, 9022669	Standard	NM_006022	NM_183422	NA	Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1136G>A	13.37:g.45149075C>T	ENSP00000397435:p.Ser379Asn	NA	B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	37	CCDS31966.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.558873	0.00009	.	.	ENSG00000102804	ENST00000458659;ENST00000501704	T	0.29917	1.55	4.61	-1.12	0.09808	.	0.285367	0.30269	N	0.010014	T	0.08313	0.0207	N	0.02247	-0.625	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37731	-0.9693	10	0.06099	T	0.92	.	7.3014	0.26422	0.0:0.153:0.1233:0.7237	.	379;379	B3KRL7;Q15714	.;T22D1_HUMAN	N	379	ENSP00000397435:S379N	ENSP00000397435:S379N	S	-	2	0	TSC22D1	44047075	0.975000	0.34042	0.309000	0.25155	0.021000	0.10359	0.637000	0.24659	-0.014000	0.14175	-1.421000	0.01109	AGC	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044743.2		-	ENST00000458659.2	Missense_Mutation	SNP	13 : 45149075 - 45149075 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	348	68
ZIC4	84107	broad.mit.edu	37	3	147108909	147108909	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147108909G>A	ENST00000491672.1	-	3	637	c.195C>T	c.(193-195)tgC>tgT	p.C65C	ZIC4_ENST00000383075.3_Silent_p.C271C|ZIC4_ENST00000425731.3_Silent_p.C309C|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000473123.1_Silent_p.C271C|ZIC4_ENST00000525172.2_Silent_p.C321C|ZIC4_ENST00000484399.1_Silent_p.C271C	NM_001243256.1	NP_001230185.1	Q8N9L1	ZIC4_HUMAN	Zic family member 4	271						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AGCACTTGTCGCAGCCCCGCA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	47	45			NA	NA	3		NA											NA				147108909		2203	4300	6503	SO:0001819	synonymous_variant			AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963	84107	84107		Zinc fingers, C2H2-type	20393	protein-coding gene	gene with protein product		608948	zinc finger protein of the cerebellum 4		NA		Standard		NM_001168378	NA	Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000491672.1:c.195C>T	3.37:g.147108909G>A		NA	A0AVA2|B2RMQ8|Q4G157|Q9BZ94	37	CCDS58857.1																																																																																			ZIC4-009	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355512.1		-	ENST00000491672.1	Silent	SNP	3 : 147108909 - 147108909 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	278	55
CUL7	9820	broad.mit.edu	37	6	43020447	43020447	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43020447C>T	ENST00000265348.3	-	2	165	c.80G>A	c.(79-81)cGc>cAc	p.R27H	CUL7_ENST00000535468.1_Missense_Mutation_p.R79H			Q14999	CUL7_HUMAN	cullin 7	27					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CACGCGCTGGCGGATCAGCTC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	56	55			NA	NA	6		NA											NA				43020447		2203	4299	6502	SO:0001583	missense			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090	9820	9820			21024	protein-coding gene	gene with protein product		609577	KIAA0076	KIAA0076	NA	12481031, 12904573	Standard	NM_014780	NM_014780	NA	Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.80G>A	6.37:g.43020447C>T	ENSP00000265348:p.Arg27His	NA	Q5T654	37	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	32	5.112437	0.94339	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	D;D	0.85484	-1.95;-1.99	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.88492	0.6451	L	0.47190	1.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.988;0.996	D	0.89366	0.3671	10	0.87932	D	0	-1.0124	16.2712	0.82622	0.0:0.8676:0.1324:0.0	.	79;27	F5H0L1;Q14999	.;CUL7_HUMAN	H	27;79	ENSP00000265348:R27H;ENSP00000438788:R79H	ENSP00000265348:R27H	R	-	2	0	CUL7	43128425	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.828000	0.69307	2.739000	0.93911	0.561000	0.74099	CGC	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040575.1		-	ENST00000265348.3	Missense_Mutation	SNP	6 : 43020447 - 43020447 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	416	80
ACSBG2	81616	broad.mit.edu	37	19	6156513	6156513	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6156513T>C	ENST00000588304.1	+	5	754	c.308T>C	c.(307-309)gTg>gCg	p.V103A	ACSBG2_ENST00000588485.1_Intron|ACSBG2_ENST00000252669.5_Missense_Mutation_p.V153A|ACSBG2_ENST00000586696.1_Missense_Mutation_p.V153A|ACSBG2_ENST00000591403.1_Missense_Mutation_p.V153A			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	153					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CATGCCAAAGTGAACATCTTG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	156	160			NA	NA	19		NA											NA				6156513		2203	4300	6503	SO:0001583	missense				CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377	81616	81616		Acyl-CoA synthetase family	24174	protein-coding gene	gene with protein product	bubblegum related protein	614363			NA	11230166	Standard	NM_030924	XM_005259653	NA	Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000588304.1:c.308T>C	19.37:g.6156513T>C	ENSP00000464938:p.Val103Ala	NA	B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	37		.	.	.	.	.	.	.	.	.	.	T	8.116	0.779798	0.16120	.	.	ENSG00000130377	ENST00000252669	T	0.36878	1.23	5.9	4.82	0.62117	AMP-dependent synthetase/ligase (1);	0.000000	0.35677	N	0.003056	T	0.10035	0.0246	N	0.01640	-0.785	0.80722	D	1	B;B	0.12013	0.002;0.005	B;B	0.11329	0.004;0.006	T	0.29488	-1.0010	10	0.02654	T	1	-42.6966	4.5681	0.12196	0.0:0.2211:0.0:0.7789	.	153;153	B4DYU1;Q5FVE4	.;ACBG2_HUMAN	A	153	ENSP00000252669:V153A	ENSP00000252669:V153A	V	+	2	0	ACSBG2	6107513	1.000000	0.71417	0.892000	0.35008	0.963000	0.63663	5.382000	0.66213	2.251000	0.74343	0.528000	0.53228	GTG	ACSBG2-007	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000452894.1		+	ENST00000588304.1	Missense_Mutation	SNP	19 : 6156513 - 6156513 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	742	157
HIPK3	10114	broad.mit.edu	37	11	33373714	33373714	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33373714G>A	ENST00000303296.4	+	16	3379	c.3074G>A	c.(3073-3075)cGa>cAa	p.R1025Q	HIPK3_ENST00000379016.3_Missense_Mutation_p.R1004Q|HIPK3_ENST00000456517.1_Missense_Mutation_p.R1004Q|HIPK3_ENST00000525975.1_Missense_Mutation_p.R1004Q	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1025					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						ATAAAAGGACGATCTGCCCCT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	131	130			NA	NA	11		NA											NA				33373714		2202	4298	6500	SO:0001583	missense			AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422	10114	10114			4915	protein-coding gene	gene with protein product		604424	homeodomain-interacting protein kinase 3		NA	9373137, 9748262	Standard	NM_005734	NM_005734	NA	Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.3074G>A	11.37:g.33373714G>A	ENSP00000304226:p.Arg1025Gln	NA	O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	37	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880365	0.33162	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.62	4.7	0.59300	.	0.145914	0.31872	N	0.006928	T	0.28267	0.0698	N	0.14661	0.345	0.49483	D	0.999795	B;B	0.14805	0.011;0.006	B;B	0.16289	0.015;0.006	T	0.08493	-1.0719	10	0.07325	T	0.83	.	13.6209	0.62136	0.0754:0.0:0.9246:0.0	.	1004;1025	Q9H422-2;Q9H422	.;HIPK3_HUMAN	Q	1004;1025;1004;1004	ENSP00000431710:R1004Q;ENSP00000304226:R1025Q;ENSP00000368301:R1004Q;ENSP00000398241:R1004Q	ENSP00000304226:R1025Q	R	+	2	0	HIPK3	33330290	1.000000	0.71417	0.617000	0.29091	0.818000	0.46254	4.652000	0.61454	1.359000	0.45940	0.655000	0.94253	CGA	HIPK3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255358.1		+	ENST00000303296.4	Missense_Mutation	SNP	11 : 33373714 - 33373714 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1096	203
TAF15	8148	broad.mit.edu	37	17	34171925	34171925	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34171925A>G	ENST00000588240.1	+	15	1737	c.1622A>G	c.(1621-1623)tAc>tGc	p.Y541C	TAF15_ENST00000592237.1_Missense_Mutation_p.T346A|TAF15_ENST00000311979.3_Missense_Mutation_p.Y538C	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	541	21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GGCAGTGGCTACGGTGGAGAC	0.622		NA	T	TEC, CHN1, ZNF384	extraskeletal myxoid chondrosarcomas, ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		17	17q11.1-q11.2	8148	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa		L, M	0													72	84	80			NA	NA	17		NA											NA				34171925		2203	4300	6503	SO:0001583	missense			U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647	8148	8148		RNA binding motif (RRM) containing	11547	protein-coding gene	gene with protein product		601574	TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)	TAF2N	NA	8954779, 9795213	Standard	NM_139215	NM_003487	NA	Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.1622A>G	17.37:g.34171925A>G	ENSP00000466950:p.Tyr541Cys	NA	B2R837|Q92751	37	CCDS32623.1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.466511	0.26335	.	.	ENSG00000172660	ENST00000311979;ENST00000536077	.	.	.	4.84	-0.218	0.13142	.	.	.	.	.	T	0.28532	0.0706	L	0.29908	0.895	0.09310	N	0.999999	P;P	0.44816	0.758;0.844	B;P	0.46479	0.319;0.518	T	0.17198	-1.0377	8	0.87932	D	0	0.1347	4.7692	0.13148	0.2856:0.0:0.526:0.1884	.	541;538	Q92804;Q92804-2	RBP56_HUMAN;.	C	541;344	.	ENSP00000309558:Y541C	Y	+	2	0	TAF15	31196038	0.000000	0.05858	0.000000	0.03702	0.894000	0.52154	0.653000	0.24902	0.048000	0.15891	0.482000	0.46254	TAC	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449134.1		+	ENST00000588240.1	Missense_Mutation	SNP	17 : 34171925 - 34171925 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	459	106
PFKL	5211	broad.mit.edu	37	21	45744399	45744399	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45744399C>T	ENST00000349048.4	+	17	1731	c.1676C>T	c.(1675-1677)gCc>gTc	p.A559V	PFKL_ENST00000403390.1_Missense_Mutation_p.A606V	NM_002626.4	NP_002617.3	P17858	K6PL_HUMAN	phosphofructokinase, liver	559					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		AAACAGTCTGCCTCGGGGACC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	63	65			NA	NA	21		NA											NA				45744399		2202	4300	6502	SO:0001583	missense				CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	5211	5211	2.7.1.11		8876	protein-coding gene	gene with protein product		171860			NA		Standard		NR_024108	NA	Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.1676C>T	21.37:g.45744399C>T	ENSP00000269848:p.Ala559Val	NA	Q96A64|Q96IH4|Q9BR91	37	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358152	0.82243	.	.	ENSG00000141959	ENST00000349048;ENST00000534847;ENST00000403390	D;D	0.84298	-1.83;-1.83	4.1	4.1	0.47936	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.95194	0.8442	H	0.97874	4.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.97112	0.9805	10	0.87932	D	0	-34.7073	15.126	0.72483	0.0:1.0:0.0:0.0	.	559;606	P17858;P17858-2	K6PL_HUMAN;.	V	559;352;606	ENSP00000269848:A559V;ENSP00000384038:A606V	ENSP00000269848:A559V	A	+	2	0	PFKL	44568827	1.000000	0.71417	0.928000	0.36995	0.351000	0.29236	7.399000	0.79935	1.852000	0.53769	0.467000	0.42956	GCC	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195805.1		+	ENST00000349048.4	Missense_Mutation	SNP	21 : 45744399 - 45744399 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	310	33
CCDC167	154467	broad.mit.edu	37	6	37452903	37452903	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:37452903T>C	ENST00000373408.3	-	2	168	c.110A>G	c.(109-111)cAc>cGc	p.H37R		NM_138493.2	NP_612502.1	Q9P0B6	CF129_HUMAN	coiled-coil domain containing 167	37						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6						CTCCCGGCTGTGGAGTCTGGA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	46	47			NA	NA	6		NA											NA				37452903		2203	4300	6503	SO:0001583	missense				CCDS34441.1	6p21.2	2011-07-04	2011-07-04	2011-07-04	ENSG00000198937	ENSG00000198937	154467	154467			21239	protein-coding gene	gene with protein product			chromosome 6 open reading frame 129	C6orf129	NA		Standard	NM_138493	NM_138493	NA	Approved	dJ153P14.2	uc003ont.3	Q9P0B6	OTTHUMG00000014625	ENST00000373408.3:c.110A>G	6.37:g.37452903T>C	ENSP00000362507:p.His37Arg	NA	Q5T7F7|Q9BTQ9	37	CCDS34441.1	.	.	.	.	.	.	.	.	.	.	T	0.444	-0.897061	0.02472	.	.	ENSG00000198937	ENST00000373408;ENST00000373405;ENST00000411755	.	.	.	5.77	0.429	0.16506	.	0.869682	0.10140	N	0.711001	T	0.03827	0.0108	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.44907	-0.9297	8	0.02654	T	1	3.3212	7.9473	0.29993	0.0:0.5615:0.0:0.4385	.	37	Q9P0B6	CC167_HUMAN	R	37	.	ENSP00000362504:H37R	H	-	2	0	CCDC167	37560881	0.000000	0.05858	0.000000	0.03702	0.632000	0.37999	-0.033000	0.12246	0.089000	0.17243	0.459000	0.35465	CAC	CCDC167-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040417.1		-	ENST00000373408.3	Missense_Mutation	SNP	6 : 37452903 - 37452903 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	44
PLCG2	5336	broad.mit.edu	37	16	81979814	81979814	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81979814C>T	ENST00000359376.3	+	31	3730	c.3516C>T	c.(3514-3516)agC>agT	p.S1172S		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1172					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						ATGGGTACAGCGAGGACATAG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	162	163			NA	NA	16		NA											NA				81979814		1968	4160	6128	SO:0001819	synonymous_variant				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	5336	5336	3.1.4.11	SH2 domain containing	9066	protein-coding gene	gene with protein product		600220			NA	7835906	Standard		XR_248240	NA	Approved		uc002fgt.3	P16885		ENST00000359376.3:c.3516C>T	16.37:g.81979814C>T		NA	D3DUL3|Q3ZTS2|Q59H45|Q969T5	37	CCDS42204.1																																																																																			PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432429.1		+	ENST00000359376.3	Silent	SNP	16 : 81979814 - 81979814 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	779	190
MARCH2	51257	broad.mit.edu	37	19	8486755	8486755	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8486755G>T	ENST00000602117.1	+	2	486	c.31G>T	c.(31-33)Ggc>Tgc	p.G11C	MARCH2_ENST00000381035.4_Missense_Mutation_p.G11C|MARCH2_ENST00000215555.2_Missense_Mutation_p.G11C|MARCH2_ENST00000601283.1_Missense_Mutation_p.G11C|MARCH2_ENST00000393944.1_Missense_Mutation_p.G11C			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	11					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						CCACCTCCCCGGCTCCCTGTG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	47	47			NA	NA	19		NA											NA				8486755		2203	4300	6503	SO:0001583	missense			AF151074	CCDS12202.1, CCDS32894.1	19p13.2	2013-01-09	2012-02-23			ENSG00000099785	51257	51257		MARCH membrane-associated ring fingers, RING-type (C3HC4) zinc fingers	28038	protein-coding gene	gene with protein product		613332	membrane-associated ring finger (C3HC4) 2		NA	11042152, 14722266	Standard	NM_016496	NM_016496	NA	Approved	HSPC240, MARCH-II, RNF172	uc002mjw.3	Q9P0N8		ENST00000602117.1:c.31G>T	19.37:g.8486755G>T	ENSP00000471536:p.Gly11Cys	NA	A6NP10|Q5H785|Q8N5A3|Q96B78	37	CCDS12202.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977229	0.92982	.	.	ENSG00000099785	ENST00000393944;ENST00000215555;ENST00000381035	T;T;T	0.15952	2.38;2.38;2.38	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.41971	0.1182	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.12142	-1.0559	10	0.62326	D	0.03	-35.6497	18.284	0.90108	0.0:0.0:1.0:0.0	.	11;11	Q9P0N8-2;Q9P0N8	.;MARH2_HUMAN	C	11	ENSP00000377518:G11C;ENSP00000215555:G11C;ENSP00000370423:G11C	ENSP00000215555:G11C	G	+	1	0	MARCH2	8392755	1.000000	0.71417	0.962000	0.40283	0.921000	0.55340	7.633000	0.83260	2.660000	0.90430	0.555000	0.69702	GGC	MARCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460361.2		+	ENST00000602117.1	Missense_Mutation	SNP	19 : 8486755 - 8486755 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	461	73
MME	4311	broad.mit.edu	37	3	154834705	154834705	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:154834705A>G	ENST00000460393.1	+	7	704	c.584A>G	c.(583-585)tAt>tGt	p.Y195C	MME_ENST00000462745.1_Missense_Mutation_p.Y195C|MME_ENST00000360490.2_Missense_Mutation_p.Y195C|MME_ENST00000493237.1_Missense_Mutation_p.Y195C|MME_ENST00000492661.1_Missense_Mutation_p.Y195C	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	195					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	AATTCTAAATATGGGAAAAAA	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	63	61			NA	NA	3		NA											NA				154834705		2203	4296	6499	SO:0001583	missense				CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	4311	4311	3.4.24.11	CD molecules	7154	protein-coding gene	gene with protein product	neutral endopeptidase, enkephalinase, neprilysin	120520			NA		Standard	NM_000902	NM_007287	NA	Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.584A>G	3.37:g.154834705A>G	ENSP00000418525:p.Tyr195Cys	NA	A8K6U6|D3DNJ9|Q3MIX4	37	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	A	18.97	3.734859	0.69189	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000481828;ENST00000462745;ENST00000493237;ENST00000360490	T;T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85;-0.85	6.17	3.52	0.40303	Peptidase M13 (1);	0.115285	0.64402	D	0.000010	D	0.86142	0.5862	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.88017	0.2766	10	0.87932	D	0	-15.7668	12.7345	0.57216	0.7695:0.0:0.0:0.2305	.	195	P08473	NEP_HUMAN	C	195	ENSP00000420389:Y195C;ENSP00000418525:Y195C;ENSP00000420101:Y195C;ENSP00000419653:Y195C;ENSP00000417079:Y195C;ENSP00000353679:Y195C	ENSP00000353679:Y195C	Y	+	2	0	MME	156317399	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.540000	0.60664	1.130000	0.42092	0.533000	0.62120	TAT	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351076.1		+	ENST00000460393.1	Missense_Mutation	SNP	3 : 154834705 - 154834705 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	309	46
GTSE1	51512	broad.mit.edu	37	22	46704391	46704391	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46704391G>T	ENST00000454366.1	+	4	525	c.313G>T	c.(313-315)Gct>Tct	p.A105S		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	86					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		GTACAAAGAAGCTCACTTACT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(153;542 1915 12487 29016 50495)							NA				0													69	78	75			NA	NA	22		NA											NA				46704391		2203	4300	6503	SO:0001583	missense			AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218	51512	51512			13698	protein-coding gene	gene with protein product		607477			NA	10974554, 10984615, 12750368	Standard	NM_016426	NM_016426	NA	Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.313G>T	22.37:g.46704391G>T	ENSP00000415430:p.Ala105Ser	NA	B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	37	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757456	0.89843	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.42900	0.96	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.69043	0.3067	M	0.80616	2.505	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.72040	-0.4410	10	0.87932	D	0	-27.4575	19.5244	0.95197	0.0:0.0:1.0:0.0	.	86	Q9NYZ3	GTSE1_HUMAN	S	105;65	ENSP00000415430:A105S	ENSP00000354634:A65S	A	+	1	0	GTSE1	45083055	1.000000	0.71417	0.620000	0.29132	0.827000	0.46813	6.511000	0.73733	2.700000	0.92200	0.655000	0.94253	GCT	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318360.2		+	ENST00000454366.1	Missense_Mutation	SNP	22 : 46704391 - 46704391 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	592	128
CDH15	1013	broad.mit.edu	37	16	89256843	89256843	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89256843G>T	ENST00000289746.2	+	8	1236	c.1171G>T	c.(1171-1173)Ggc>Tgc	p.G391C		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	391	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGCACCCCCAGGCACTCTGGT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	24	24			NA	NA	16		NA											NA				89256843		2194	4296	6490	SO:0001583	missense			D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910	1013	1013		Cadherins / Major cadherins	1754	protein-coding gene	gene with protein product		114019	cadherin 15, M-cadherin (myotubule)	CDH3, CDH14	NA	1427864	Standard	NM_004933	NM_004933	NA	Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.1171G>T	16.37:g.89256843G>T	ENSP00000289746:p.Gly391Cys	NA		37	CCDS10976.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697553	0.48307	.	.	ENSG00000129910	ENST00000289746	T	0.70399	-0.48	4.52	4.52	0.55395	Cadherin (3);Cadherin-like (1);	0.000000	0.52532	D	0.000070	D	0.87111	0.6096	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90522	0.4489	10	0.87932	D	0	.	16.0183	0.80460	0.0:0.0:1.0:0.0	.	391	P55291	CAD15_HUMAN	C	391	ENSP00000289746:G391C	ENSP00000289746:G391C	G	+	1	0	CDH15	87784344	1.000000	0.71417	0.134000	0.22075	0.003000	0.03518	7.457000	0.80775	2.064000	0.61679	0.455000	0.32223	GGC	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269920.1		+	ENST00000289746.2	Missense_Mutation	SNP	16 : 89256843 - 89256843 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	101	26
NCAPH	23397	broad.mit.edu	37	2	97007618	97007618	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97007618C>T	ENST00000455200.1	+	2	520	c.225C>T	c.(223-225)gcC>gcT	p.A75A	NCAPH_ENST00000240423.4_Silent_p.A86A|NCAPH_ENST00000427946.1_Intron			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	86					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GCTTATTGGCCTCCCCCTCCA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	74	73			NA	NA	2		NA											NA				97007618		2203	4300	6503	SO:0001819	synonymous_variant			BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152	23397	23397			1112	protein-coding gene	gene with protein product		602332	barren (Drosophila) homolog, barren homolog (Drosophila), barren homolog 1 (Drosophila)	BRRN1	NA	9417923	Standard	NM_015341	NM_015341	NA	Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000455200.1:c.225C>T	2.37:g.97007618C>T		NA	Q8TB87	37																																																																																				NCAPH-005	PUTATIVE	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000338875.1		+	ENST00000455200.1	Silent	SNP	2 : 97007618 - 97007618 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	669	108
HTR1A	3350	broad.mit.edu	37	5	63256399	63256399	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:63256399G>A	ENST00000323865.3	-	1	1381	c.1148C>T	c.(1147-1149)gCc>gTc	p.A383V	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	383					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	ATTGATTATGGCGCCCAACAG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	166	163			NA	NA	5		NA											NA				63256399		2203	4300	6503	SO:0001583	missense			AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394	3350	3350		5-HT (serotonin) receptors, GPCR / Class A : 5-HT (serotonin) receptors, GPCR only	5286	protein-coding gene	gene with protein product		109760	5-hydroxytryptamine (serotonin) receptor 1A	ADRB2RL1, ADRBRL1	NA	2591972, 12969265	Standard	NM_000524	NM_000524	NA	Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.1148C>T	5.37:g.63256399G>A	ENSP00000316244:p.Ala383Val	NA	Q6LAE7	37	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.782245	0.70222	.	.	ENSG00000178394	ENST00000323865	T	0.36157	1.27	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.114707	0.64402	D	0.000018	T	0.45776	0.1359	L	0.43152	1.355	0.51233	D	0.999912	P	0.51537	0.946	P	0.55667	0.781	T	0.31308	-0.9948	10	0.54805	T	0.06	.	13.7557	0.62935	0.0:0.0:0.8465:0.1535	.	383	P08908	5HT1A_HUMAN	V	383	ENSP00000316244:A383V	ENSP00000316244:A383V	A	-	2	0	HTR1A	63292155	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.390000	0.44416	2.692000	0.91855	0.655000	0.94253	GCC	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368397.1		-	ENST00000323865.3	Missense_Mutation	SNP	5 : 63256399 - 63256399 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1443	238
SPINK13	153218	broad.mit.edu	37	5	147649640	147649640	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147649640C>A	ENST00000512953.1	+	3	536	c.5C>A	c.(4-6)gCt>gAt	p.A2D	SPINK13_ENST00000398450.4_Missense_Mutation_p.A2D|RP11-373N22.3_ENST00000501695.3_RNA|SPINK13_ENST00000511106.1_5'UTR			Q1W4C9	ISK13_HUMAN	serine peptidase inhibitor, Kazal type 13 (putative)	2						extracellular region	serine-type endopeptidase inhibitor activity			breast(2)|lung(3)	5						GATCAAATGGCTGCCTTTCCC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													228	208	214			NA	NA	5		NA											NA				147649640		1858	4095	5953	SO:0001583	missense				CCDS43383.1	5q32	2011-08-31			ENSG00000214510	ENSG00000214510	153218	153218		Serine peptidase inhibitors, Kazal type	27200	protein-coding gene	gene with protein product		615205			NA		Standard	NM_001040129.2	NM_001040129	NA	Approved	SPINK5L3, LiESP6, HESPINTOR, MGC149260, HBVDNAPTP1	uc003lpc.3	Q1W4C9	OTTHUMG00000163426	ENST00000512953.1:c.5C>A	5.37:g.147649640C>A	ENSP00000421048:p.Ala2Asp	NA	A1A4Y2	37	CCDS43383.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419487	0.62622	.	.	ENSG00000214510	ENST00000512953;ENST00000398450	D;D	0.85773	-2.03;-2.03	3.99	3.99	0.46301	.	.	.	.	.	D	0.90109	0.6910	.	.	.	0.24203	N	0.9955	D	0.76494	0.999	D	0.65773	0.938	T	0.81335	-0.0979	8	0.62326	D	0.03	-0.8141	11.9878	0.53157	0.0:1.0:0.0:0.0	.	2	Q1W4C9	ISK13_HUMAN	D	2	ENSP00000421048:A2D;ENSP00000381468:A2D	ENSP00000381468:A2D	A	+	2	0	SPINK13	147629833	0.086000	0.21541	0.924000	0.36721	0.151000	0.21798	0.427000	0.21379	2.533000	0.85409	0.603000	0.83216	GCT	SPINK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373337.1		+	ENST00000512953.1	Missense_Mutation	SNP	5 : 147649640 - 147649640 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	793	28
DNMBP	23268	broad.mit.edu	37	10	101659757	101659757	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101659757T>C	ENST00000324109.4	-	7	2712	c.2621A>G	c.(2620-2622)gAt>gGt	p.D874G	DNMBP_ENST00000342239.3_Missense_Mutation_p.D874G|DNMBP_ENST00000543621.1_Missense_Mutation_p.D120G	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	874	DH.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AATGGCCTCATCATGATTCTG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	158	165			NA	NA	10		NA											NA				101659757		2203	4300	6503	SO:0001583	missense			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554	23268	23268		Rho guanine nucleotide exchange factors	30373	protein-coding gene	gene with protein product	scaffold protein TUBA	611282			NA	10231032, 14506234	Standard	NM_015221	NM_015221	NA	Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.2621A>G	10.37:g.101659757T>C	ENSP00000315659:p.Asp874Gly	NA	Q8IVY3|Q9Y2L3	37	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.862457	0.91511	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000370423;ENST00000422692	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.48	5.48	0.80851	Dbl homology (DH) domain (5);	0.000000	0.49916	D	0.000133	T	0.77922	0.4203	M	0.71871	2.18	0.80722	D	1	D;D;D	0.71674	0.998;0.982;0.998	D;P;D	0.72338	0.977;0.861;0.977	T	0.79890	-0.1612	10	0.59425	D	0.04	-24.5908	15.8535	0.78956	0.0:0.0:0.0:1.0	.	874;120;874	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	G	874;874;120;120;162;162	ENSP00000344914:D874G;ENSP00000315659:D874G;ENSP00000443657:D120G;ENSP00000409476:D162G	ENSP00000315659:D874G	D	-	2	0	DNMBP	101649747	1.000000	0.71417	0.982000	0.44146	0.987000	0.75469	7.929000	0.87595	2.207000	0.71202	0.459000	0.35465	GAT	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049832.2		-	ENST00000324109.4	Missense_Mutation	SNP	10 : 101659757 - 101659757 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	678	105
ASAP1	50807	broad.mit.edu	37	8	131146542	131146542	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:131146542G>A	ENST00000518721.1	-	15	1444	c.1217C>T	c.(1216-1218)gCa>gTa	p.A406V	ASAP1_ENST00000357668.1_Splice_Site_p.A406V	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	406	PH.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AACTACTTACGCTACATAATC	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	147	153			NA	NA	8		NA											NA				131146542		2203	4300	6503	SO:0001630	splice_region_variant			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317	50807	50807		ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing	2720	protein-coding gene	gene with protein product	centaurin, beta 4	605953	development and differentiation enhancing factor 1	DDEF1	NA	9819391	Standard	NM_018482	NM_018482	NA	Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.1217+1C>T	8.37:g.131146542G>A		NA		37	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	G	9.802	1.180911	0.21787	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721	T;T	0.76578	-1.03;-1.03	5.95	5.95	0.96441	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.105801	0.64402	D	0.000005	T	0.69504	0.3118	L	0.43646	1.37	0.80722	D	1	B;B;P	0.37061	0.428;0.428;0.58	B;B;B	0.26770	0.051;0.051;0.073	T	0.67894	-0.5552	9	.	.	.	.	19.3579	0.94422	0.0:0.0:1.0:0.0	.	406;406;409	B2RNV3;Q9ULH1;Q9ULH1-2	.;ASAP1_HUMAN;.	V	409;406;406	ENSP00000350297:A406V;ENSP00000429900:A406V	.	A	-	2	0	ASAP1	131215724	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.709000	0.74665	2.811000	0.96726	0.655000	0.94253	GCA	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380170.1	Missense_Mutation	-	ENST00000518721.1	Splice_Site	SNP	8 : 131146542 - 131146542 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	273	54
KIAA1462	57608	broad.mit.edu	37	10	30315241	30315241	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30315241G>A	ENST00000375377.1	-	3	3937	c.3836C>T	c.(3835-3837)gCc>gTc	p.A1279V		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1279										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTGGGAGTCGGCATTCCTGAA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	47	47			NA	NA	10		NA											NA				30315241		1939	4134	6073	SO:0001583	missense			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757	57608	57608			29283	protein-coding gene	gene with protein product	junctional protein associated with coronary artery disease	614398			NA	10819331, 21884682	Standard	NM_020848	NM_020848	NA	Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3836C>T	10.37:g.30315241G>A	ENSP00000364526:p.Ala1279Val	NA	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	37	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089268	0.55968	.	.	ENSG00000165757	ENST00000375377	T	0.17528	2.27	5.44	2.35	0.29111	.	0.898410	0.09575	N	0.783702	T	0.25044	0.0608	L	0.59436	1.845	0.09310	N	1	P	0.42296	0.775	B	0.42282	0.382	T	0.27872	-1.0061	10	0.66056	D	0.02	-2.1189	16.3529	0.83224	0.0:0.3723:0.6277:0.0	.	1279	Q9P266	K1462_HUMAN	V	1279	ENSP00000364526:A1279V	ENSP00000364526:A1279V	A	-	2	0	KIAA1462	30355247	0.035000	0.19736	0.000000	0.03702	0.001000	0.01503	2.173000	0.42472	0.632000	0.30432	0.655000	0.94253	GCC	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047409.1		-	ENST00000375377.1	Missense_Mutation	SNP	10 : 30315241 - 30315241 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	375	31
PTPRH	5794	broad.mit.edu	37	19	55713637	55713637	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55713637C>T	ENST00000376350.3	-	6	962	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.A136T	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	314	Fibronectin type-III 4.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CAGGTCAGGGCGATGGAGCTG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	88	94			NA	NA	19		NA											NA				55713637		2203	4300	6503	SO:0001583	missense				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031	5794	5794		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing	9672	protein-coding gene	gene with protein product		602510			NA	8294459	Standard		XM_006723312	NA	Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.940G>A	19.37:g.55713637C>T	ENSP00000365528:p.Ala314Thr	NA	Q15426|Q2NKN9|Q2NKP0	37	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.534429	0.00145	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.54479	0.57;0.57	3.89	-1.5	0.08691	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.19485	0.0468	N	0.03154	-0.405	0.09310	N	1	B;B;B	0.16396	0.004;0.003;0.017	B;B;B	0.12837	0.008;0.003;0.004	T	0.25847	-1.0120	9	0.02654	T	1	.	4.4153	0.11454	0.1487:0.1943:0.0:0.657	.	136;136;314	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	T	314;136	ENSP00000365528:A314T;ENSP00000263434:A136T	ENSP00000263434:A136T	A	-	1	0	PTPRH	60405449	0.751000	0.28327	0.088000	0.20740	0.011000	0.07611	0.629000	0.24538	-0.434000	0.07275	-2.769000	0.00120	GCC	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452649.1		-	ENST00000376350.3	Missense_Mutation	SNP	19 : 55713637 - 55713637 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	431	67
ABCA4	24	broad.mit.edu	37	1	94528169	94528169	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94528169A>G	ENST00000370225.3	-	13	1987	c.1901T>C	c.(1900-1902)cTc>cCc	p.L634P	ABCA4_ENST00000535735.1_Missense_Mutation_p.L634P	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	634					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CATCTGCTGGAGGTAGATTCC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	73	74			NA	NA	1		NA											NA				94528169		2203	4300	6503	SO:0001583	missense			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691	24	24		ATP binding cassette transporters / subfamily A	34	protein-coding gene	gene with protein product	Stargardt disease	601691	ATP-binding cassette transporter, retinal-specific	STGD1, ABCR, RP19, STGD	NA	9490294	Standard	NM_000350	NM_000350	NA	Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.1901T>C	1.37:g.94528169A>G	ENSP00000359245:p.Leu634Pro	NA	O15112|O60438|O60915|Q4LE31	37	CCDS747.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.537521	0.85917	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.89552	-2.53;-2.53	4.95	4.95	0.65309	.	0.167184	0.41823	D	0.000818	D	0.94006	0.8080	M	0.87827	2.91	0.80722	D	1	D;P	0.71674	0.998;0.596	D;B	0.72075	0.976;0.324	D	0.95079	0.8211	10	0.87932	D	0	.	14.7803	0.69760	1.0:0.0:0.0:0.0	.	634;634	F5H6E5;P78363	.;ABCA4_HUMAN	P	634	ENSP00000359245:L634P;ENSP00000437682:L634P	ENSP00000359245:L634P	L	-	2	0	ABCA4	94300757	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.037000	0.93765	2.079000	0.62486	0.459000	0.35465	CTC	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029320.1		-	ENST00000370225.3	Missense_Mutation	SNP	1 : 94528169 - 94528169 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	219	9
SLC29A3	55315	broad.mit.edu	37	10	73121880	73121880	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73121880G>A	ENST00000373189.5	+	6	995	c.943G>A	c.(943-945)Gtc>Atc	p.V315I	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	315					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						TGTCACCTACGTCTTCTTCAT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(200;1319 2142 18949 31248 39672)							NA				0													171	175	174			NA	NA	10		NA											NA				73121880		2203	4300	6503	SO:0001583	missense			AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246	55315	55315		Solute carriers	23096	protein-coding gene	gene with protein product		612373	solute carrier family 29 (nucleoside transporters), member 3		NA	11396612	Standard	NM_018344	NM_018344	NA	Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.943G>A	10.37:g.73121880G>A	ENSP00000362285:p.Val315Ile	NA	B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	37	CCDS7310.1	.	.	.	.	.	.	.	.	.	.	G	3.803	-0.041220	0.07452	.	.	ENSG00000198246	ENST00000373189	T	0.62788	-0.0	5.62	-3.16	0.05217	.	0.511061	0.19037	N	0.124400	T	0.44685	0.1305	L	0.52759	1.655	0.31699	N	0.640933	B	0.22146	0.065	B	0.23150	0.044	T	0.28554	-1.0040	9	0.21540	T	0.41	-24.0032	4.6273	0.12484	0.5022:0.161:0.2622:0.0746	.	315	Q9BZD2	S29A3_HUMAN	I	315	ENSP00000362285:V315I	ENSP00000362285:V315I	V	+	1	0	SLC29A3	72791886	0.025000	0.19082	0.012000	0.15200	0.042000	0.13812	0.286000	0.18902	-0.217000	0.10033	-0.140000	0.14226	GTC	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048544.1		+	ENST00000373189.5	Missense_Mutation	SNP	10 : 73121880 - 73121880 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1234	261
ARPC2	10109	broad.mit.edu	37	2	219099092	219099092	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219099092C>T	ENST00000295685.10	+	4	501	c.240C>T	c.(238-240)taC>taT	p.Y80Y	ARPC2_ENST00000315717.5_Silent_p.Y80Y	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	80					cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		AGAGGGTGTACGGGAGTTTCT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	129	128			NA	NA	2		NA											NA				219099092		2203	4300	6503	SO:0001819	synonymous_variant			AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466	10109	10109		Actin related protein 2/3 complex subunits	705	protein-coding gene	gene with protein product		604224	actin related protein 2/3 complex, subunit 2 (34 kD)		NA	9359840, 9230079	Standard	NM_005731	NM_005731	NA	Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.240C>T	2.37:g.219099092C>T		NA	Q92801|Q9P1D4	37	CCDS2410.1																																																																																			ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256777.2		+	ENST00000295685.10	Silent	SNP	2 : 219099092 - 219099092 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	672	158
KRT5	3852	broad.mit.edu	37	12	52913904	52913904	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52913904G>A	ENST00000252242.4	-	1	567	c.177C>T	c.(175-177)ggC>ggT	p.G59G		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	59	Gly-rich.|Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGCTGCCATAGCCACCCACTC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	60	55			NA	NA	12		NA											NA				52913904		2201	4293	6494	SO:0001819	synonymous_variant				CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081	3852	3852		-, Intermediate filaments type II, keratins (basic)	6442	protein-coding gene	gene with protein product		148040	epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types, keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)	EBS2	NA	1713141, 16831889	Standard		NM_000424	NA	Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.177C>T	12.37:g.52913904G>A		NA	Q6PI71|Q6UBJ0|Q8TA91	37	CCDS8830.1	.	.	.	.	.	.	.	.	.	.	G	7.416	0.635730	0.14322	.	.	ENSG00000186081	ENST00000456000	.	.	.	5.93	4.1	0.47936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2039	0.43101	0.2044:0.0:0.7956:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KRT5	51200171	0.992000	0.36948	0.814000	0.32528	0.075000	0.17131	0.863000	0.27913	0.836000	0.34901	-0.136000	0.14681	.	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405312.1		-	ENST00000252242.4	Silent	SNP	12 : 52913904 - 52913904 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	721	285
RUVBL2	10856	broad.mit.edu	37	19	49510577	49510577	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49510577C>T	ENST00000595090.1	+	6	878	c.414C>T	c.(412-414)atC>atT	p.I138I	RUVBL2_ENST00000601968.1_Silent_p.I93I|RUVBL2_ENST00000413176.2_Silent_p.I93I	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	138					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CGGAGATCATCGAAGGGGAGG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	113	110			NA	NA	19		NA											NA				49510577		2087	4213	6300	SO:0001819	synonymous_variant			AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12				10856	10856		INO80 complex subunits, ATPases / AAA-type	10475	protein-coding gene	gene with protein product	reptin, INO80 complex subunit J	604788	RuvB (E coli homolog)-like 2, RuvB-like 2 (E. coli)		NA	10428817, 10998447	Standard		XM_005258426	NA	Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.414C>T	19.37:g.49510577C>T		NA	Q6FIB9|Q6PK27|Q9Y361	37	CCDS42588.1																																																																																			RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466235.1		+	ENST00000595090.1	Silent	SNP	19 : 49510577 - 49510577 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	350	35
LTB4R2	56413	broad.mit.edu	37	14	24780826	24780826	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24780826G>A	ENST00000528054.1	+	1	2666	c.1049G>A	c.(1048-1050)cGc>cAc	p.R350H	LTB4R2_ENST00000533293.1_Missense_Mutation_p.R319H|LTB4R2_ENST00000543919.1_Missense_Mutation_p.R319H|LTB4R_ENST00000345363.3_5'UTR			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	350					chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane				endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		GGGGGCGGCCGCTCTAGGGAA	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	43	40			NA	NA	14		NA											NA				24780826		2194	4289	6483	SO:0001583	missense			AB008193	CCDS9625.1, CCDS9625.2	14q12	2014-04-11			ENSG00000213906	ENSG00000213906	56413	56413		GPCR / Class A : Leukotriene receptors	19260	protein-coding gene	gene with protein product		605773			NA	11006272, 10934229	Standard		NM_001164692	NA	Approved	BLTR2, BLT2, JULF2, NOP9	uc001wor.3	Q9NPC1	OTTHUMG00000186500	ENST00000528054.1:c.1049G>A	14.37:g.24780826G>A	ENSP00000432146:p.Arg350His	NA	Q9NPE5	37		.	.	.	.	.	.	.	.	.	.	G	18.98	3.738029	0.69304	.	.	ENSG00000213906	ENST00000528054;ENST00000533293;ENST00000543919;ENST00000530080	T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.36	4.81	3.91	0.45181	.	0.431407	0.21050	U	0.081007	T	0.48554	0.1506	N	0.24115	0.695	0.80722	D	1	B	0.24258	0.1	B	0.14023	0.01	T	0.43130	-0.9410	10	0.48119	T	0.1	.	7.7868	0.29097	0.1924:0.0:0.8076:0.0	.	350	Q9NPC1	LT4R2_HUMAN	H	350;319;319;319	ENSP00000432146:R350H;ENSP00000433290:R319H;ENSP00000445772:R319H;ENSP00000434760:R319H	ENSP00000337731:R350H	R	+	2	0	LTB4R2	23850666	0.074000	0.21230	0.995000	0.50966	0.972000	0.66771	0.866000	0.27954	1.015000	0.39444	0.591000	0.81541	CGC	LTB4R2-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	NA	protein_coding	OTTHUMT00000073194.4		+	ENST00000528054.1	Missense_Mutation	SNP	14 : 24780826 - 24780826 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	589	145
PLRG1	5356	broad.mit.edu	37	4	155465619	155465619	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155465619T>C	ENST00000499023.2	-	7	698	c.572A>G	c.(571-573)cAc>cGc	p.H191R	PLRG1_ENST00000393905.2_Missense_Mutation_p.H191R|PLRG1_ENST00000302078.5_Missense_Mutation_p.H182R	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	191						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				CCACGGTGGGTGCCACTGGGG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	131	131			NA	NA	4		NA											NA				155465619		2203	4300	6503	SO:0001583	missense			AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566	5356	5356		WD repeat domain containing	9089	protein-coding gene	gene with protein product	transport and golgi organization 4 homolog (Drosophila)	605961	pleiotropic regulator 1 (PRL1, Arabidopsis homolog), pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)		NA		Standard	NM_002669	NM_002669	NA	Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.572A>G	4.37:g.155465619T>C	ENSP00000424417:p.His191Arg	NA	B3KMK4|Q3KQY5|Q8WUD8	37	CCDS34083.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.667238	0.88251	.	.	ENSG00000171566	ENST00000499023;ENST00000393905;ENST00000302078;ENST00000504341	T;T;T	0.80824	-1.42;-1.42;-1.42	6.02	6.02	0.97574	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83737	0.5319	L	0.51422	1.61	0.80722	D	1	P;B	0.39404	0.672;0.199	B;P	0.49387	0.283;0.609	D	0.84188	0.0443	10	0.56958	D	0.05	-12.8404	16.5494	0.84464	0.0:0.0:0.0:1.0	.	182;191	O43660-2;O43660	.;PLRG1_HUMAN	R	191;191;182;189	ENSP00000424417:H191R;ENSP00000377483:H191R;ENSP00000303191:H182R	ENSP00000303191:H182R	H	-	2	0	PLRG1	155685069	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	8.040000	0.89188	2.299000	0.77371	0.528000	0.53228	CAC	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364824.1		-	ENST00000499023.2	Missense_Mutation	SNP	4 : 155465619 - 155465619 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	348	72
TRAK1	22906	broad.mit.edu	37	3	42234671	42234671	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42234671G>A	ENST00000449246.1	+	7	953	c.652G>A	c.(652-654)Gtt>Att	p.V218I	TRAK1_ENST00000396175.1_Missense_Mutation_p.V234I|TRAK1_ENST00000341421.3_Missense_Mutation_p.V234I|TRAK1_ENST00000327628.5_Missense_Mutation_p.V292I|TRAK1_ENST00000487159.1_3'UTR	NM_001265609.1|NM_001265610.1	NP_001252538.1|NP_001252539.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	292	HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						ATCGCAAATAGTTGATTTGCA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(44;195 884 22595 31865 41850)							NA				0													110	105	106			NA	NA	3		NA											NA				42234671		2203	4300	6503	SO:0001583	missense				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606	22906	22906			29947	protein-coding gene	gene with protein product	OGT(O Glc NAc transferase) interacting protein 106 KDa, O-linked N-acetylglucosamine transferase interacting protein 106, milton homolog 1 (Drosophila)	608112			NA	10470851, 12435728, 16380713, 20230862	Standard	NM_014965	NM_014965	NA	Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000449246.1:c.652G>A	3.37:g.42234671G>A	ENSP00000410717:p.Val218Ile	NA	Q63HR0|Q96B69	37	CCDS58826.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372768	0.82573	.	.	ENSG00000182606	ENST00000327628;ENST00000543338;ENST00000449246;ENST00000396175;ENST00000341421;ENST00000427771	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000001	T	0.47078	0.1426	M	0.64997	1.995	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;0.998;0.998;0.996;0.972;1.0	D;D;D;D;P;D	0.83275	0.994;0.996;0.996;0.99;0.899;0.984	T	0.26985	-1.0087	10	0.59425	D	0.04	.	19.2263	0.93819	0.0:0.0:1.0:0.0	.	218;234;292;234;218;292	B7Z218;C9JC32;B7Z347;Q9UPV9-2;E9PDS2;Q9UPV9	.;.;.;.;.;TRAK1_HUMAN	I	292;292;218;234;234;35	ENSP00000328998:V292I;ENSP00000410717:V218I;ENSP00000379478:V234I;ENSP00000340702:V234I;ENSP00000413729:V35I	ENSP00000328998:V292I	V	+	1	0	TRAK1	42209675	1.000000	0.71417	0.116000	0.21606	0.491000	0.33493	9.799000	0.99117	2.779000	0.95612	0.637000	0.83480	GTT	TRAK1-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343383.1		+	ENST00000449246.1	Missense_Mutation	SNP	3 : 42234671 - 42234671 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	334	88
ST13	6767	broad.mit.edu	37	22	41252472	41252472	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41252472T>C	ENST00000216218.3	-	1	554	c.73A>G	c.(73-75)Acc>Gcc	p.T25A		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	25							protein binding, bridging			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						ATTTCCTCGGTGTGCAGAACG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	64	62			NA	NA	22		NA											NA				41252472		2203	4300	6503	SO:0001583	missense				CCDS14006.1	22q13.2	2013-01-10	2001-11-29		ENSG00000100380	ENSG00000100380	6767	6767		Tetratricopeptide (TTC) repeat domain containing	11343	protein-coding gene	gene with protein product	progesterone receptor-associated p48 protein	606796	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70-interacting protein)		NA	9925927, 8721986	Standard	NM_003932	NM_003932	NA	Approved	SNC6, HSPABP1, HIP, P48, FAM10A1	uc003aze.3	P50502	OTTHUMG00000151201	ENST00000216218.3:c.73A>G	22.37:g.41252472T>C	ENSP00000216218:p.Thr25Ala	NA	O14999	37	CCDS14006.1	.	.	.	.	.	.	.	.	.	.	T	14.42	2.529592	0.44969	.	.	ENSG00000100380	ENST00000216218;ENST00000542699;ENST00000401032	T	0.16597	2.33	5.52	4.49	0.54785	.	0.387108	0.32578	N	0.005907	T	0.13970	0.0338	L	0.55743	1.74	0.29955	N	0.819911	B;B	0.10296	0.003;0.0	B;B	0.11329	0.006;0.0	T	0.28586	-1.0039	10	0.08381	T	0.77	.	7.7736	0.29023	0.0:0.162:0.0:0.838	.	25;25	B4E0U6;P50502	.;F10A1_HUMAN	A	25	ENSP00000216218:T25A	ENSP00000216218:T25A	T	-	1	0	ST13	39582418	0.974000	0.33945	1.000000	0.80357	0.985000	0.73830	0.256000	0.18351	1.115000	0.41800	0.460000	0.39030	ACC	ST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321759.1		-	ENST00000216218.3	Missense_Mutation	SNP	22 : 41252472 - 41252472 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	563	98
CD55	1604	broad.mit.edu	37	1	207497997	207497997	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207497997A>G	ENST00000391921.4	+	3	409				CD55_ENST00000314754.8_Missense_Mutation_p.Y127C|CD55_ENST00000367062.4_Missense_Mutation_p.Y127C|CD55_ENST00000367065.5_Missense_Mutation_p.Y127C|CD55_ENST00000391920.4_Missense_Mutation_p.Y127C|CD55_ENST00000367064.3_Missense_Mutation_p.Y127C|CD55_ENST00000367067.4_Intron|CD55_ENST00000367063.2_Missense_Mutation_p.Y127C			P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	NA					complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	GTTGTGGAATATGAGTGCCGT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	107	108			NA	NA	1		NA											NA				207497997		2203	4300	6503	SO:0001627	intron_variant			BC001288	CCDS31006.1, CCDS44307.1, CCDS73022.1	1q32	2014-09-17	2006-03-28	2006-02-23	ENSG00000196352	ENSG00000196352	1604	1604		CD molecules, Blood group antigens	2665	protein-coding gene	gene with protein product		125240	decay accelerating factor for complement (CD55, Cromer blood group system)	DAF	NA		Standard	NM_000574	XM_005273077	NA	Approved	CR, TC, CROM	uc001hfr.4	P08174	OTTHUMG00000036255	ENST00000391921.4:c.287-970A>G	1.37:g.207497997A>G		NA	B1AP14|D3DT83|D3DT84|P09679|P78361	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.18|13.18	2.158731|2.158731	0.38119|0.38119	.|.	.|.	ENSG00000196352|ENSG00000196352	ENST00000343420|ENST00000367064;ENST00000367063;ENST00000314754;ENST00000367065;ENST00000391920;ENST00000367062	.|T;T;T;T;T;T	.|0.71934	.|-0.61;-0.61;-0.61;-0.61;-0.61;-0.61	6.16|6.16	5.02|5.02	0.67125|0.67125	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.151856	.|0.45867	.|D	.|0.000328	D|D	0.87822|0.87822	0.6274|0.6274	H|H	0.95187|0.95187	3.635|3.635	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.999;1.0;0.999;1.0	D|D	0.89768|0.89768	0.3952|0.3952	5|10	.|0.87932	.|D	.|0	.|.	11.262|11.262	0.49089|0.49089	0.8634:0.0:0.0:0.1366|0.8634:0.0:0.0:0.1366	.|.	.|127;127;127;127	.|Q14UF4;P08174-2;P08174;B1AP13	.|.;.;DAF_HUMAN;.	V|C	137|127	.|ENSP00000356031:Y127C;ENSP00000356030:Y127C;ENSP00000316333:Y127C;ENSP00000356032:Y127C;ENSP00000375787:Y127C;ENSP00000356029:Y127C	.|ENSP00000316333:Y127C	M|Y	+|+	1|2	0|0	CD55|CD55	205564620|205564620	0.982000|0.982000	0.34865|0.34865	0.678000|0.678000	0.29963|0.29963	0.017000|0.017000	0.09413|0.09413	2.438000|2.438000	0.44837|0.44837	1.114000|1.114000	0.41781|0.41781	0.528000|0.528000	0.53228|0.53228	ATG|TAT	CD55-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000088209.2		+	ENST00000391921.4	Intron	SNP	1 : 207497997 - 207497997 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	388	99
ATP6V1B2	526	broad.mit.edu	37	8	20072363	20072363	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:20072363G>A	ENST00000276390.2	+	10	1002	c.962G>A	c.(961-963)cGa>cAa	p.R321Q		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	321					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		CCTGGTCGACGAGGTTTTCCA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(119;1230 1726 3901 4036 31644)							NA				0													136	120	125			NA	NA	8		NA											NA				20072363		2203	4300	6503	SO:0001583	missense			L35249	CCDS6014.1	8p21.3	2010-04-21	2006-01-13	2002-05-10	ENSG00000147416	ENSG00000147416	526	526	3.6.3.14	ATPases / V-type	854	protein-coding gene	gene with protein product		606939	ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide, 56/58kD, isoform 2, ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2	VPP3, ATP6B2	NA	2145275, 14580332	Standard	NM_001693	NM_001693	NA	Approved	VATB, Vma2, HO57	uc003wzp.3	P21281	OTTHUMG00000131073	ENST00000276390.2:c.962G>A	8.37:g.20072363G>A	ENSP00000276390:p.Arg321Gln	NA	B2R5Z3|D3DSQ5|Q14544|Q15859|Q96IR0	37	CCDS6014.1	.	.	.	.	.	.	.	.	.	.	G	37	6.027307	0.97216	.	.	ENSG00000147416	ENST00000276390;ENST00000542368	T	0.77620	-1.11	5.3	5.3	0.74995	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.83367	0.5239	M	0.89658	3.05	0.80722	D	1	D	0.59767	0.986	B	0.43194	0.411	D	0.88191	0.2877	10	0.87932	D	0	-14.2941	17.8874	0.88861	0.0:0.0:1.0:0.0	.	321	P21281	VATB2_HUMAN	Q	321;195	ENSP00000276390:R321Q	ENSP00000276390:R321Q	R	+	2	0	ATP6V1B2	20116643	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.869000	0.99810	2.627000	0.88993	0.655000	0.94253	CGA	ATP6V1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253732.1		+	ENST00000276390.2	Missense_Mutation	SNP	8 : 20072363 - 20072363 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	65
ELP6	54859	broad.mit.edu	37	3	47545887	47545887	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47545887C>A	ENST00000446787.1	-	3	225	c.37G>T	c.(37-39)Gga>Tga	p.G13*	ELP6_ENST00000296149.4_Nonsense_Mutation_p.G86*|ELP6_ENST00000439305.1_Nonsense_Mutation_p.G13*					elongator acetyltransferase complex subunit 6	NA											NA						GACTTGAGTCCCTCAAGGAAC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	70	68			NA	NA	3		NA											NA				47545887		2031	4180	6211	SO:0001587	stop_gained			AK000218	CCDS43082.1	3p21.31	2012-08-14	2012-08-08	2012-08-08	ENSG00000163832	ENSG00000163832	54859	54859		Elongator acetyltransferase complex subunits	25976	protein-coding gene	gene with protein product		615020	transmembrane protein 103, chromosome 3 open reading frame 75	TMEM103, C3orf75	NA	22854966	Standard	NM_017713	XM_005265241	NA	Approved	FLJ20211	uc003crk.3	Q0PNE2	OTTHUMG00000133521	ENST00000446787.1:c.37G>T	3.37:g.47545887C>A	ENSP00000412593:p.Gly13*	NA		37		.	.	.	.	.	.	.	.	.	.	C	21.7	4.182322	0.78677	.	.	ENSG00000163832	ENST00000296149;ENST00000450051;ENST00000446787;ENST00000439305;ENST00000412761;ENST00000444760;ENST00000425291;ENST00000449409;ENST00000414236	.	.	.	6.06	6.06	0.98353	.	0.091404	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-14.1737	18.1147	0.89549	0.0:1.0:0.0:0.0	.	.	.	.	X	86;62;13;13;13;13;13;13;13	.	ENSP00000296149:G86X	G	-	1	0	C3orf75	47520891	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	6.021000	0.70832	2.882000	0.98803	0.655000	0.94253	GGA	ELP6-016	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000345349.2		-	ENST00000446787.1	Nonsense_Mutation	SNP	3 : 47545887 - 47545887 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	306	54
GRM7	2917	broad.mit.edu	37	3	7620460	7620460	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:7620460G>T	ENST00000486284.1	+	8	2141	c.1867G>T	c.(1867-1869)Gca>Tca	p.A623S	GRM7_ENST00000403881.1_Missense_Mutation_p.A623S|GRM7_ENST00000402647.2_Missense_Mutation_p.A623S|GRM7_ENST00000389336.4_Missense_Mutation_p.A623S|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000357716.4_Missense_Mutation_p.A623S	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	623					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CATTGTCCGGGCATCTGGGCG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	125	124			NA	NA	3		NA											NA				7620460		2203	4300	6503	SO:0001583	missense			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277	2917	2917		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4599	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 87	604101			NA	8288585, 8840028	Standard	NM_000844	NM_000844	NA	Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000486284.1:c.1867G>T	3.37:g.7620460G>T	ENSP00000417536:p.Ala623Ser	NA	Q8NFS2|Q8NFS3|Q8NFS4	37		.	.	.	.	.	.	.	.	.	.	G	21.0	4.076362	0.76415	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49	5.93	5.93	0.95920	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.94361	0.8187	M	0.75447	2.3	0.80722	D	1	D;D;D;D;D	0.89917	0.995;0.99;0.999;0.992;1.0	D;D;D;D;D	0.97110	0.992;0.98;0.996;0.989;1.0	D	0.93418	0.6774	10	0.46703	T	0.11	.	18.9177	0.92512	0.0:0.0:1.0:0.0	.	623;623;378;623;623	B7ZKK0;Q14831-5;Q59G95;Q14831;Q14831-2	.;.;.;GRM7_HUMAN;.	S	623	ENSP00000350348:A623S;ENSP00000417536:A623S;ENSP00000373987:A623S;ENSP00000385664:A623S;ENSP00000384585:A623S	ENSP00000350348:A623S	A	+	1	0	GRM7	7595460	1.000000	0.71417	0.988000	0.46212	0.462000	0.32619	9.869000	0.99810	2.826000	0.97356	0.655000	0.94253	GCA	GRM7-015	PUTATIVE	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000354360.1		+	ENST00000486284.1	Missense_Mutation	SNP	3 : 7620460 - 7620460 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	813	72
NLK	51701	broad.mit.edu	37	17	26495604	26495604	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26495604A>G	ENST00000407008.3	+	6	1686	c.968A>G	c.(967-969)gAc>gGc	p.D323G		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	323	Protein kinase.				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AATGCTATTGACATCTGGTCT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	154	156			NA	NA	17		NA											NA				26495604		2203	4300	6503	SO:0001583	missense			AF197898	CCDS11224.2	17q11.2	2005-12-22	2005-12-22		ENSG00000087095	ENSG00000087095	51701	51701			29858	protein-coding gene	gene with protein product		609476	nemo like kinase		NA	9448268, 10863097	Standard	NM_016231	NM_016231	NA	Approved		uc010crj.3	Q9UBE8	OTTHUMG00000132451	ENST00000407008.3:c.968A>G	17.37:g.26495604A>G	ENSP00000384625:p.Asp323Gly	NA	B2RCX1|Q2PNI9|Q6P2A3	37	CCDS11224.2	.	.	.	.	.	.	.	.	.	.	A	27.6	4.848021	0.91277	.	.	ENSG00000087095	ENST00000407008	T	0.78816	-1.21	6.08	6.08	0.98989	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91962	0.7454	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94214	0.7461	10	0.87932	D	0	-8.5349	15.825	0.78698	1.0:0.0:0.0:0.0	.	323	Q9UBE8	NLK_HUMAN	G	323	ENSP00000384625:D323G	ENSP00000384625:D323G	D	+	2	0	NLK	23519731	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.333000	0.79357	0.533000	0.62120	GAC	NLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255607.3		+	ENST00000407008.3	Missense_Mutation	SNP	17 : 26495604 - 26495604 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	666	122
BMP1	649	broad.mit.edu	37	8	22035193	22035193	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22035193C>A	ENST00000306385.5	+	6	1400				BMP1_ENST00000354870.5_Missense_Mutation_p.L282M|BMP1_ENST00000306349.8_Intron|BMP1_ENST00000397814.3_Intron|BMP1_ENST00000397816.3_Intron	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	NA					cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		AGGACTCTTCCTGAGACCCTC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	131	132			NA	NA	8		NA											NA				22035193		876	1991	2867	SO:0001627	intron_variant				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	649	649	3.4.24.19	Bone morphogenetic proteins	1067	protein-coding gene	gene with protein product	procollagen C-endopeptidase	112264	procollagen C-endopeptidase	PCOLC	NA	2004778	Standard	NM_006132	NM_006129	NA	Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.731-172C>A	8.37:g.22035193C>A		NA	A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	37	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.705770	0.30232	.	.	ENSG00000168487	ENST00000354870	T	0.81163	-1.46	4.28	-2.72	0.05968	.	.	.	.	.	T	0.74481	0.3722	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.67122	-0.5750	6	0.66056	D	0.02	.	5.66	0.17664	0.0:0.4642:0.1705:0.3653	.	.	.	.	M	282	ENSP00000346941:L282M	ENSP00000346941:L282M	L	+	1	2	BMP1	22091138	0.000000	0.05858	0.001000	0.08648	0.105000	0.19272	-0.759000	0.04761	-0.371000	0.08004	-0.339000	0.08088	CTG	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214995.2		+	ENST00000306385.5	Intron	SNP	8 : 22035193 - 22035193 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	453	104
MYRIP	25924	broad.mit.edu	37	3	40251388	40251388	+	Missense_Mutation	SNP	G	G	A	rs146905729	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40251388G>A	ENST00000302541.6	+	11	2051	c.1709G>A	c.(1708-1710)cGg>cAg	p.R570Q	MYRIP_ENST00000425621.1_Missense_Mutation_p.R570Q|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000444716.1_Missense_Mutation_p.R570Q|MYRIP_ENST00000396217.3_Missense_Mutation_p.R481Q|MYRIP_ENST00000539167.1_Missense_Mutation_p.R383Q	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	570	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AATGAGGCTCGGGATCCCCAG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	107	103	104		1709	-11.1	0	3	dbSNP_134	104	6,8594	5.0+/-18.6	0,6,4294	yes	missense	MYRIP	NM_015460.2	43	0,7,6496	AA,AG,GG	NA	0.0698,0.0227,0.0538	benign	570/860	40251388	7,12999	2203	4300	6503	SO:0001583	missense			AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011	25924	25924		A-kinase anchor proteins	19156	protein-coding gene	gene with protein product	synaptotagmin-like protein homologue lacking C2 domains-c, rab effector MYRIP, Slp homologue lacking C2 domains	611790			NA	11964381, 12221080	Standard	NM_015460	NM_001284425	NA	Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1709G>A	3.37:g.40251388G>A	ENSP00000301972:p.Arg570Gln	NA	Q569F7|Q8IUF5|Q9Y3V4	37	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	G	4.499	0.092538	0.08632	2.27E-4	6.98E-4	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167	T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12	5.54	-11.1	0.00147	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	1.219430	0.05706	N	0.595052	T	0.05090	0.0136	N	0.02225	-0.63	0.09310	N	1	B;B;B	0.13145	0.007;0.0;0.001	B;B;B	0.08055	0.003;0.0;0.001	T	0.20739	-1.0266	9	.	.	.	.	4.1303	0.10146	0.3183:0.1099:0.4637:0.1081	.	481;570;570	Q32M42;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	Q	570;570;570;481;383	ENSP00000398665:R570Q;ENSP00000301972:R570Q;ENSP00000389323:R570Q;ENSP00000379519:R481Q;ENSP00000438297:R383Q	.	R	+	2	0	MYRIP	40226392	0.007000	0.16637	0.000000	0.03702	0.009000	0.06853	0.017000	0.13399	-2.264000	0.00689	-0.794000	0.03295	CGG	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254181.2		+	ENST00000302541.6	Missense_Mutation	SNP	3 : 40251388 - 40251388 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	492	88
NPHP4	261734	broad.mit.edu	37	1	5926444	5926444	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:5926444G>A	ENST00000378156.4	-	26	3898	c.3633C>T	c.(3631-3633)gtC>gtT	p.V1211V	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1211					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		AGTAAATGATGACAAAGAAGT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	45	44			NA	NA	1		NA											NA				5926444		1943	4138	6081	SO:0001819	synonymous_variant			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697	261734	261734			19104	protein-coding gene	gene with protein product	nephroretinin, nephrocystin-4, POC10 centriolar protein homolog (Chlamydomonas)	607215			NA	11920287, 12205563	Standard		XR_244787	NA	Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.3633C>T	1.37:g.5926444G>A		NA		37	CCDS44052.1																																																																																			NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000001715.2		-	ENST00000378156.4	Silent	SNP	1 : 5926444 - 5926444 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	72	11
CSMD2	114784	broad.mit.edu	37	1	34123589	34123589	+	Silent	SNP	G	G	A	rs146442508	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:34123589G>A	ENST00000373380.1	-	6	1243	c.1023C>T	c.(1021-1023)atC>atT	p.I341I	CSMD2_ENST00000373381.4_Silent_p.I1468I|CSMD2_ENST00000373388.2_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1428	Sushi 2.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACCTGTTCTCGATCTTCACAC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	115	118			NA	NA	1		NA											NA				34123589		2203	4300	6503	SO:0001819	synonymous_variant			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904	114784	114784			19290	protein-coding gene	gene with protein product		608398			NA	11472063, 11572484	Standard	NM_052896	NM_001281956	NA	Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.1023C>T	1.37:g.34123589G>A		NA	B1AM50|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	37																																																																																				CSMD2-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000030635.4		-	ENST00000373380.1	Silent	SNP	1 : 34123589 - 34123589 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	519	109
RYR3	6263	broad.mit.edu	37	15	34078040	34078040	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34078040G>T	ENST00000389232.4	+	66	9516	c.9446G>T	c.(9445-9447)gGt>gTt	p.G3149V	RYR3_ENST00000415757.3_Missense_Mutation_p.G3149V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3149					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGGAGCGGGGTCCTGAGAAC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	169	163			NA	NA	15		NA											NA				34078040		2159	4268	6427	SO:0001583	missense				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838	6263	6263		Ion channels / Ryanodine receptors, EF-hand domain containing	10485	protein-coding gene	gene with protein product		180903			NA	8276408	Standard		NM_001036	NA	Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9446G>T	15.37:g.34078040G>T	ENSP00000373884:p.Gly3149Val	NA	O15175|Q15412	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928608	0.92389	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.64991	-0.13;-0.13	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.83119	0.5185	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.85902	0.1435	10	0.87932	D	0	.	19.1279	0.93393	0.0:0.0:1.0:0.0	.	3149;3149	Q15413-2;Q15413	.;RYR3_HUMAN	V	3149	ENSP00000373884:G3149V;ENSP00000399610:G3149V	ENSP00000354735:G3149V	G	+	2	0	RYR3	31865332	1.000000	0.71417	0.996000	0.52242	0.934000	0.57294	9.601000	0.98297	2.824000	0.97209	0.655000	0.94253	GGT	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417514.1		+	ENST00000389232.4	Missense_Mutation	SNP	15 : 34078040 - 34078040 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1061	182
CXXC1	30827	broad.mit.edu	37	18	47809894	47809894	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47809894C>T	ENST00000285106.6	-	12	2279	c.1565G>A	c.(1564-1566)cGc>cAc	p.R522H	CXXC1_ENST00000412036.2_Missense_Mutation_p.R526H|CXXC1_ENST00000589940.1_Missense_Mutation_p.R522H	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	522					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CCCTTCAATGCGTGTGGGGTA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	60	69			NA	NA	18		NA											NA				47809894		2203	4300	6503	SO:0001583	missense			BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832	30827	30827		Zinc fingers, PHD-type	24343	protein-coding gene	gene with protein product	CpG binding protein, DNA-binding protein with PHD finger and CXXC domain, zinc finger, CpG binding-type containing 1	609150	CXXC finger 1 (PHD domain)		NA	10799292, 10688657	Standard	NM_014593	NM_014593	NA	Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.1565G>A	18.37:g.47809894C>T	ENSP00000285106:p.Arg522His	NA	Q8N2W4|Q96BC8|Q9P2V7	37	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543446	0.86022	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.26067	1.76;1.76	4.49	4.49	0.54785	CpG binding protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.47637	0.1456	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.956;0.974;0.98	T	0.50242	-0.8851	10	0.72032	D	0.01	-13.1822	15.0406	0.71788	0.0:1.0:0.0:0.0	.	526;522;389	Q9P0U4-2;Q9P0U4;Q59EC8	.;CXXC1_HUMAN;.	H	522;526	ENSP00000285106:R522H;ENSP00000390475:R526H	ENSP00000285106:R522H	R	-	2	0	CXXC1	46063892	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.054000	0.76649	2.212000	0.71576	0.467000	0.42956	CGC	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255927.2		-	ENST00000285106.6	Missense_Mutation	SNP	18 : 47809894 - 47809894 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	165	28
LOXL2	4017	broad.mit.edu	37	8	23185946	23185946	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23185946G>T	ENST00000389131.3	-	6	1468	c.1099C>A	c.(1099-1101)Ctg>Atg	p.L367M		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	367	SRCR 3.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CCAAAGCCCAGCTCTCTGCAG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	86	92			NA	NA	8		NA											NA				23185946		2203	4300	6503	SO:0001583	missense			U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013	4017	4017			6666	protein-coding gene	gene with protein product		606663			NA	9722957	Standard		NM_002318	NA	Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.1099C>A	8.37:g.23185946G>T	ENSP00000373783:p.Leu367Met	NA	Q9BW70|Q9Y5Y8	37	CCDS34864.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.5|24.5	4.538091|4.538091	0.85917|0.85917	.|.	.|.	ENSG00000134013|ENSG00000134013	ENST00000389131|ENST00000520349	T|.	0.56941|.	0.43|.	5.38|5.38	4.5|4.5	0.54988|0.54988	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76630|0.76630	0.4014|0.4014	M|M	0.85373|0.85373	2.75|2.75	0.58432|0.58432	D|D	0.999996|0.999996	D|.	0.64830|.	0.994|.	D|.	0.64687|.	0.928|.	T|T	0.79045|0.79045	-0.1964|-0.1964	10|5	0.62326|.	D|.	0.03|.	.|.	12.2427|12.2427	0.54553|0.54553	0.0831:0.0:0.9169:0.0|0.0831:0.0:0.9169:0.0	.|.	367|.	Q9Y4K0|.	LOXL2_HUMAN|.	M|R	367|83	ENSP00000373783:L367M|.	ENSP00000373783:L367M|.	L|S	-|-	1|3	2|2	LOXL2|LOXL2	23241891|23241891	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.059000|4.059000	0.57470|0.57470	2.510000|2.510000	0.84645|0.84645	0.462000|0.462000	0.41574|0.41574	CTG|AGC	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375603.1		-	ENST00000389131.3	Missense_Mutation	SNP	8 : 23185946 - 23185946 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	595	136
CDC73	79577	broad.mit.edu	37	1	193117091	193117091	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:193117091C>T	ENST00000367435.3	+	8	1008	c.824C>T	c.(823-825)cCt>cTt	p.P275L		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	275					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						AATGCAGCACCTGTGGTAAGA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	45	48			NA	NA	1		NA											NA				193117091		2203	4300	6503	SO:0001583	missense			AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371	79577	79577			16783	protein-coding gene	gene with protein product	Paf1/RNA polymerase II complex component	607393	chromosome 1 open reading frame 28, hyperparathyroidism 2 (with jaw tumor), cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae), hyperparathyroidism 1	C1orf28, HRPT2, HRPT1	NA	11318611, 15632063, 18755853	Standard	NM_024529	NM_024529	NA	Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.824C>T	1.37:g.193117091C>T	ENSP00000356405:p.Pro275Leu	NA	A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	37	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333084	0.60853	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	T	0.63744	-0.06	5.66	5.66	0.87406	.	0.058977	0.64402	D	0.000001	T	0.66799	0.2826	M	0.79123	2.44	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.63506	-0.6622	10	0.46703	T	0.11	-15.6887	19.3509	0.94384	0.0:1.0:0.0:0.0	.	275	Q6P1J9	CDC73_HUMAN	L	275	ENSP00000356405:P275L	ENSP00000356405:P275L	P	+	2	0	CDC73	191383714	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.170000	0.58229	2.656000	0.90262	0.655000	0.94253	CCT	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086696.2		+	ENST00000367435.3	Missense_Mutation	SNP	1 : 193117091 - 193117091 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	173	43
FSIP2	401024	broad.mit.edu	37	2	186671858	186671858	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:186671858G>A	ENST00000424728.1	+	17	17825	c.17825G>A	c.(17824-17826)gGa>gAa	p.G5942E	FSIP2_ENST00000343098.5_Missense_Mutation_p.G6031E					fibrous sheath interacting protein 2	NA										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AACAGTAATGGAGAAAATTTA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	103	104			NA	NA	2		NA											NA				186671858		1813	4069	5882	SO:0001583	missense			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738	401024	401024			21675	protein-coding gene	gene with protein product		615796			NA	14702039	Standard	NM_173651	NM_173651	NA	Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.17825G>A	2.37:g.186671858G>A	ENSP00000401306:p.Gly5942Glu	NA		37		.	.	.	.	.	.	.	.	.	.	G	12.44	1.938612	0.34189	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.55413	0.52;0.53	4.8	2.01	0.26516	.	0.701833	0.13045	N	0.418241	T	0.43389	0.1245	L	0.36672	1.1	0.09310	N	1	.	.	.	.	.	.	T	0.30995	-0.9959	8	0.38643	T	0.18	.	6.7008	0.23225	0.2981:0.0:0.7019:0.0	.	.	.	.	E	6031;5942	ENSP00000344403:G6031E;ENSP00000401306:G5942E	ENSP00000344403:G6031E	G	+	2	0	FSIP2	186380103	0.000000	0.05858	0.001000	0.08648	0.874000	0.50279	0.567000	0.23608	0.232000	0.21100	0.491000	0.48974	GGA	FSIP2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000332778.3		+	ENST00000424728.1	Missense_Mutation	SNP	2 : 186671858 - 186671858 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	495	84
IGF2BP1	10642	broad.mit.edu	37	17	47126761	47126761	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47126761G>T	ENST00000290341.3	+	15	2023	c.1689G>T	c.(1687-1689)caG>caT	p.Q563H	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.Q424H	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	563	Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTAAGCAGCAGCATCAGAAGG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(198;1041 2123 8248 37119 38268)							NA				0													128	93	105			NA	NA	17		NA											NA				47126761		2203	4300	6503	SO:0001583	missense			AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217	10642	10642		RNA binding motif (RRM) containing	28866	protein-coding gene	gene with protein product	IGF II mRNA binding protein 1	608288			NA	9891060, 11992722	Standard	NM_006546	NM_001160423	NA	Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.1689G>T	17.37:g.47126761G>T	ENSP00000290341:p.Gln563His	NA		37	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	G	9.597	1.127641	0.20959	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.33654	2.14;1.4	5.0	4.03	0.46877	.	0.139400	0.49916	D	0.000134	T	0.30417	0.0764	L	0.47716	1.5	0.48511	D	0.999665	P;B	0.46277	0.875;0.005	B;B	0.41510	0.359;0.009	T	0.04153	-1.0973	10	0.26408	T	0.33	-15.2867	10.7342	0.46115	0.0899:0.0:0.9101:0.0	.	424;563	C9JT33;Q9NZI8	.;IF2B1_HUMAN	H	563;424	ENSP00000290341:Q563H;ENSP00000389135:Q424H	ENSP00000290341:Q563H	Q	+	3	2	IGF2BP1	44481760	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.254000	0.43214	1.451000	0.47736	0.563000	0.77884	CAG	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364046.1		+	ENST00000290341.3	Missense_Mutation	SNP	17 : 47126761 - 47126761 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	198	17
MTMR4	9110	broad.mit.edu	37	17	56584573	56584573	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56584573G>T	ENST00000323456.5	-	9	897	c.773C>A	c.(772-774)gCc>gAc	p.A258D	MTMR4_ENST00000579925.1_Missense_Mutation_p.A258D	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	258	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGGGCACAGGCTTTAGCAAT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	58	59			NA	NA	17		NA											NA				56584573		2203	4300	6503	SO:0001583	missense			AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389	9110	9110		Zinc fingers, FYVE domain containing, Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins	7452	protein-coding gene	gene with protein product		603559			NA	9736772	Standard	NM_004687	NM_004687	NA	Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.773C>A	17.37:g.56584573G>T	ENSP00000325285:p.Ala258Asp	NA	D3DTZ6|Q8IV27|Q9Y4D5	37	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	G	35	5.482580	0.96307	.	.	ENSG00000108389	ENST00000323456	D	0.91068	-2.78	5.39	5.39	0.77823	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.113387	0.64402	D	0.000011	D	0.96460	0.8845	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97001	0.9729	10	0.87932	D	0	.	18.5543	0.91077	0.0:0.0:1.0:0.0	.	258	Q9NYA4	MTMR4_HUMAN	D	258	ENSP00000325285:A258D	ENSP00000325285:A258D	A	-	2	0	MTMR4	53939572	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.713000	0.92767	0.644000	0.83932	GCC	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444721.1		-	ENST00000323456.5	Missense_Mutation	SNP	17 : 56584573 - 56584573 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	405	75
B3GNT4	79369	broad.mit.edu	37	12	122691403	122691403	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122691403G>A	ENST00000535274.1	+	1	2257	c.530G>A	c.(529-531)cGc>cAc	p.R177H	B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000324189.4_Missense_Mutation_p.R202H|B3GNT4_ENST00000546192.1_Missense_Mutation_p.R177H			Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	202					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		CACCTGCAGCGCTGGGTGGTG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	48	47			NA	NA	12		NA											NA				122691403		2203	4300	6503	SO:0001583	missense			AB049586	CCDS9227.1	12q24	2013-02-19					79369	79369		Beta 3-glycosyltransferases	15683	protein-coding gene	gene with protein product		605864			NA	11042166	Standard	NM_030765	NM_030765	NA	Approved	B3GN-T4, beta3Gn-T4	uc001ubx.3	Q9C0J1		ENST00000535274.1:c.530G>A	12.37:g.122691403G>A	ENSP00000444534:p.Arg177His	NA	Q8N5W4|Q8N934|Q8ND21|Q8WWR5|Q8WY02|Q96QH5	37		.	.	.	.	.	.	.	.	.	.	G	21.6	4.174716	0.78452	.	.	ENSG00000176383	ENST00000324189;ENST00000546192;ENST00000535274	T;T;T	0.45668	0.89;0.89;0.89	4.93	4.04	0.47022	.	0.000000	0.50627	D	0.000104	T	0.60327	0.2260	M	0.67517	2.055	0.35791	D	0.822427	D	0.89917	1.0	D	0.71414	0.973	T	0.71876	-0.4460	10	0.72032	D	0.01	.	12.8768	0.57994	0.0799:0.0:0.9201:0.0	.	202	Q9C0J1	B3GN4_HUMAN	H	202;177;177	ENSP00000319636:R202H;ENSP00000438840:R177H;ENSP00000444534:R177H	ENSP00000319636:R202H	R	+	2	0	B3GNT4	121257356	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.880000	0.63107	1.201000	0.43203	0.655000	0.94253	CGC	B3GNT4-003	KNOWN	alternative_5_UTR|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000401600.1		+	ENST00000535274.1	Missense_Mutation	SNP	12 : 122691403 - 122691403 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	427	66
C2CD3	26005	broad.mit.edu	37	11	73768505	73768505	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73768505G>T	ENST00000313663.7	-	25	5262	c.5036C>A	c.(5035-5037)aCc>aAc	p.T1679N	C2CD3_ENST00000334126.7_Missense_Mutation_p.T1679N	NM_015531.4	NP_056346.3	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1679	C2 2.					centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AACCACTTGGGTGTATACAGG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	118	118			NA	NA	11		NA											NA				73768505		2200	4293	6493	SO:0001583	missense			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014	26005	26005			24564	protein-coding gene	gene with protein product		615944			NA		Standard	NM_015531	XM_005273897	NA	Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000313663.7:c.5036C>A	11.37:g.73768505G>T	ENSP00000323339:p.Thr1679Asn	NA	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	37	CCDS31636.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364919	0.82463	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	T;T;T	0.74632	-0.86;-0.86;-0.86	5.03	5.03	0.67393	.	0.050138	0.85682	D	0.000000	D	0.82365	0.5021	M	0.63843	1.955	0.46131	D	0.998889	P	0.52463	0.953	P	0.56434	0.798	D	0.84574	0.0657	10	0.87932	D	0	-9.0877	18.3221	0.90242	0.0:0.0:1.0:0.0	.	1679	Q4AC94-1	.	N	1679;1679;1660;487	ENSP00000334379:T1679N;ENSP00000323339:T1679N;ENSP00000388750:T487N	ENSP00000323339:T1679N	T	-	2	0	C2CD3	73446153	1.000000	0.71417	0.994000	0.49952	0.849000	0.48306	8.053000	0.89449	2.505000	0.84491	0.650000	0.86243	ACC	C2CD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398210.1		-	ENST00000313663.7	Missense_Mutation	SNP	11 : 73768505 - 73768505 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	666	108
SCAF8	22828	broad.mit.edu	37	6	155109046	155109046	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:155109046C>T	ENST00000367178.3	+	4	787	c.211C>T	c.(211-213)Cga>Tga	p.R71*	SCAF8_ENST00000461219.1_3'UTR|SCAF8_ENST00000417268.1_Nonsense_Mutation_p.R71*|SCAF8_ENST00000367186.4_Nonsense_Mutation_p.R137*	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	71	CID.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CTCCATTGTGCGACAATCCCG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	143	146			NA	NA	6		NA											NA				155109046		2203	4300	6503	SO:0001587	stop_gained			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079	22828	22828		RNA binding motif (RRM) containing	20959	protein-coding gene	gene with protein product			RNA binding motif protein 16	RBM16	NA	10470851	Standard	NM_014892	NM_001286189	NA	Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.211C>T	6.37:g.155109046C>T	ENSP00000356146:p.Arg71*	NA	Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	37	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843274	0.91197	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	.	.	.	5.18	4.3	0.51218	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9719	0.64245	0.29:0.71:0.0:0.0	.	.	.	.	X	71;71;137	.	ENSP00000356146:R71X	R	+	1	2	SCAF8	155150738	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.393000	0.52544	1.288000	0.44600	0.591000	0.81541	CGA	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042798.1		+	ENST00000367178.3	Nonsense_Mutation	SNP	6 : 155109046 - 155109046 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	479	15
CHRNA10	57053	broad.mit.edu	37	11	3688708	3688708	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3688708C>T	ENST00000534359.1	-	4	698	c.102G>A	c.(100-102)acG>acA	p.T34T	CHRNA10_ENST00000250699.2_Missense_Mutation_p.G217S			Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	360					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	GAGCAGCAGCCGTAGGTGAGC	0.731		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(153;17 1869 2949 7120 36888)							NA				0													11	14	13			NA	NA	11		NA											NA				3688708		2136	4186	6322	SO:0001819	synonymous_variant			AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749	57053	57053		Cholinergic receptors, Ligand-gated ion channels / Acetylcholine receptors, nicotinic	13800	protein-coding gene	gene with protein product	acetylcholine receptor, nicotinic, alpha 10 (neuronal)	606372	cholinergic receptor, nicotinic, alpha polypeptide 10		NA		Standard		NM_020402	NA	Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000534359.1:c.102G>A	11.37:g.3688708C>T		NA		37		.	.	.	.	.	.	.	.	.	.	C	21.9	4.216189	0.79352	.	.	ENSG00000129749	ENST00000250699	T	0.80393	-1.37	5.22	5.22	0.72569	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.56097	D	0.000025	T	0.81192	0.4771	N	0.25286	0.73	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.75238	-0.3388	10	0.07990	T	0.79	.	17.3358	0.87280	0.0:1.0:0.0:0.0	.	217	Q9GZZ6	ACH10_HUMAN	S	217	ENSP00000250699:G217S	ENSP00000250699:G217S	G	-	1	0	CHRNA10	3645284	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.991000	0.70602	2.433000	0.82419	0.561000	0.74099	GGC	CHRNA10-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000392912.1		-	ENST00000534359.1	Silent	SNP	11 : 3688708 - 3688708 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	159	27
TEKT3	64518	broad.mit.edu	37	17	15212016	15212016	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15212016C>T	ENST00000395930.1	-	8	1407	c.1221G>A	c.(1219-1221)ccG>ccA	p.P407P	TEKT3_ENST00000338696.2_Silent_p.P407P	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	407					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		ACTCAATGTTCGGCCGTCTTG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													180	140	153			NA	NA	17		NA											NA				15212016		2203	4300	6503	SO:0001819	synonymous_variant			AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409	64518	64518			14293	protein-coding gene	gene with protein product		612683			NA	11381029, 14735490	Standard	NM_031898	NM_031898	NA	Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.1221G>A	17.37:g.15212016C>T		NA	B2RAS7|D3DTT0|Q8N5R5|Q96M48	37	CCDS11169.1																																																																																			TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130385.2		-	ENST00000395930.1	Silent	SNP	17 : 15212016 - 15212016 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	588	104
RARS2	57038	broad.mit.edu	37	6	88229394	88229394	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88229394C>A	ENST00000369536.5	-	14	1189	c.1144G>T	c.(1144-1146)Gga>Tga	p.G382*		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	382					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		GTCTTCATTCCCTGTACTACT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	98	100			NA	NA	6		NA											NA				88229394		2203	4300	6503	SO:0001587	stop_gained			AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	57038	57038	6.1.1.19	Aminoacyl tRNA synthetases / Class I	21406	protein-coding gene	gene with protein product	arginine tRNA ligase 2, mitochondrial (putative)	611524	arginyl-tRNA synthetase-like	RARSL	NA	17847012	Standard	NM_020320	NM_020320	NA	Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.1144G>T	6.37:g.88229394C>A	ENSP00000358549:p.Gly382*	NA	B2RDT7|Q96FU5|Q9H8K8	37	CCDS5011.1	.	.	.	.	.	.	.	.	.	.	C	38	7.079834	0.98048	.	.	ENSG00000146282	ENST00000369536	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	20.4324	0.99085	0.0:1.0:0.0:0.0	.	.	.	.	X	382	.	ENSP00000358549:G382X	G	-	1	0	RARS2	88286113	1.000000	0.71417	0.982000	0.44146	0.961000	0.63080	7.158000	0.77470	2.833000	0.97629	0.585000	0.79938	GGA	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041448.1		-	ENST00000369536.5	Nonsense_Mutation	SNP	6 : 88229394 - 88229394 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	355	59
PF4	5196	broad.mit.edu	37	4	74846978	74846978	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74846978G>A	ENST00000296029.3	-	3	419	c.249C>T	c.(247-249)tgC>tgT	p.C83C		NM_002619.3	NP_002610.1	P02776	PLF4_HUMAN	platelet factor 4	83					cytokine-mediated signaling pathway|immune response|leukocyte chemotaxis|negative regulation of angiogenesis|negative regulation of apoptosis|negative regulation of cytolysis|negative regulation of megakaryocyte differentiation|negative regulation of MHC class II biosynthetic process|platelet activation|platelet degranulation|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of tumor necrosis factor production	extracellular space|platelet alpha granule lumen	chemokine activity|heparin binding			kidney(1)|lung(1)	2	Breast(15;0.00136)		all cancers(17;0.0034)|Lung(101;0.196)		Drotrecogin alfa(DB00055)	GCAGGTCCAAGCAAATTTTCC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	89	87			NA	NA	4		NA											NA				74846978		2203	4300	6503	SO:0001819	synonymous_variant			M25897	CCDS3562.1	4q12-q21	2012-10-02	2008-08-29		ENSG00000163737	ENSG00000163737	5196	5196			8861	protein-coding gene	gene with protein product	chemokine (C-X-C motif) ligand 4	173460	platelet factor 4		NA	3622011	Standard		NM_002619	NA	Approved	SCYB4, CXCL4	uc003hhi.3	P02776	OTTHUMG00000130009	ENST00000296029.3:c.249C>T	4.37:g.74846978G>A		NA	Q53X61|Q9UC64|Q9UC65	37	CCDS3562.1																																																																																			PF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252282.1		-	ENST00000296029.3	Silent	SNP	4 : 74846978 - 74846978 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	425	75
JKAMP	51528	broad.mit.edu	37	14	59970602	59970602	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59970602A>C	ENST00000554271.1	+	7	1316	c.790A>C	c.(790-792)Aga>Cga	p.R264R	JKAMP_ENST00000261247.9_Silent_p.R250R|JKAMP_ENST00000356057.5_Silent_p.R258R|JKAMP_ENST00000425728.2_Silent_p.R244R|RP11-701B16.2_ENST00000554253.1_RNA	NM_001284201.1	NP_001271130.1	Q9P055	JKAMP_HUMAN	JNK1/MAPK8-associated membrane protein	265					ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						CAGAAAGAAAAGACTTATTGT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	113	115			NA	NA	14		NA											NA				59970602		1812	4082	5894	SO:0001819	synonymous_variant			AF212245	CCDS45116.1, CCDS45117.1, CCDS61462.1, CCDS61463.1	14q22.3	2014-02-14	2009-08-13	2009-08-13	ENSG00000050130	ENSG00000050130	51528	51528			20184	protein-coding gene	gene with protein product	Jun N-terminal kinase 1-associated membrane protein	611176	chromosome 14 open reading frame 100	C14orf100	NA	16166642, 19269966	Standard	NM_001098625	NM_001284202	NA	Approved	HSPC213, JAMP, HSPC327, CDA06	uc001xef.4	Q9P055	OTTHUMG00000171054	ENST00000554271.1:c.790A>C	14.37:g.59970602A>C		NA	B4DP67|Q6FIB6|Q6IAJ2|Q7Z5D4|Q86SY6|Q9H0Q6|Q9H2W0|Q9HAH5|Q9P0R3	37																																																																																				JKAMP-003	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000411437.1		+	ENST00000554271.1	Silent	SNP	14 : 59970602 - 59970602 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	362	79
PLEKHA7	144100	broad.mit.edu	37	11	16823313	16823313	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16823313G>A	ENST00000531066.1	-	16	2250	c.2209C>T	c.(2209-2211)Cga>Tga	p.R737*	PLEKHA7_ENST00000448080.2_Nonsense_Mutation_p.R737*|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000355661.3_Nonsense_Mutation_p.R737*			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	737					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GGCTGGTCTCGGTACTGCTCC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	104	107			NA	NA	11		NA											NA				16823313		2200	4294	6494	SO:0001587	stop_gained			BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689	144100	144100		Pleckstrin homology (PH) domain containing	27049	protein-coding gene	gene with protein product		612686			NA	12477932	Standard	NM_175058	NM_175058	NA	Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000531066.1:c.2209C>T	11.37:g.16823313G>A	ENSP00000435389:p.Arg737*	NA	B4DK33|B4DWC3|Q86VZ7	37		.	.	.	.	.	.	.	.	.	.	G	39	7.682262	0.98431	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080;ENST00000525581	.	.	.	5.88	3.84	0.44239	.	0.164390	0.52532	D	0.000074	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-10.7591	13.1816	0.59657	0.0:0.0:0.5978:0.4022	.	.	.	.	X	737;737;737;68	.	ENSP00000347883:R737X	R	-	1	2	PLEKHA7	16779889	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.648000	0.46647	0.753000	0.32945	0.555000	0.69702	CGA	PLEKHA7-002	PUTATIVE	not_organism_supported|basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000387236.1		-	ENST00000531066.1	Nonsense_Mutation	SNP	11 : 16823313 - 16823313 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	381	73
DENND1C	79958	broad.mit.edu	37	19	6467822	6467822	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6467822G>A	ENST00000381480.2	-	23	2211	c.2099C>T	c.(2098-2100)aCt>aTt	p.T700I	DENND1C_ENST00000543576.1_Missense_Mutation_p.T656I	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	700						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GAGCCAGGGAGTGGGGTTTTC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	24	24			NA	NA	19		NA											NA				6467822		1886	4105	5991	SO:0001583	missense			AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744	79958	79958		DENN/MADD domain containing	26225	protein-coding gene	gene with protein product		613634	family with sequence similarity 31, member C	FAM31C	NA	12477932	Standard	NM_024898	XM_005259646	NA	Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.2099C>T	19.37:g.6467822G>A	ENSP00000370889:p.Thr700Ile	NA	B4E051|D3PFD4|Q8NDB1|Q9H5Z2	37	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.313910	0.23908	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.09911	3.1;2.93	4.47	-1.97	0.07503	.	2.337440	0.02089	N	0.053003	T	0.05593	0.0147	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.31861	-0.9928	10	0.21014	T	0.42	0.0155	1.2983	0.02074	0.1571:0.2981:0.3339:0.2108	.	700	Q8IV53	DEN1C_HUMAN	I	700;656	ENSP00000370889:T700I;ENSP00000437805:T656I	ENSP00000370889:T700I	T	-	2	0	DENND1C	6418822	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.095000	0.11077	0.112000	0.17975	0.298000	0.19748	ACT	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453332.2		-	ENST00000381480.2	Missense_Mutation	SNP	19 : 6467822 - 6467822 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	118	32
FRAS1	80144	broad.mit.edu	37	4	79461814	79461814	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79461814G>A	ENST00000264895.6	+	74	12015	c.11575G>A	c.(11575-11577)Gat>Aat	p.D3859N		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3854					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGTAGAGCCCGATGGCCAGCT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								A	ASN/ASP	0,4042		0,0,2021	42	45	44		11575	4.3	1	4		44	1,8363		0,1,4181	no	missense	FRAS1	NM_025074.6	23	0,1,6202	AA,AG,GG	NA	0.012,0.0,0.0081	benign	3859/4013	79461814	1,12405	2021	4182	6203	SO:0001583	missense			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759	80144	80144			19185	protein-coding gene	gene with protein product		607830	Fraser syndrome 1		NA	12766769, 3118036	Standard		NM_025074	NA	Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.11575G>A	4.37:g.79461814G>A	ENSP00000264895:p.Asp3859Asn	NA	Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	37	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.470|5.470	0.271699|0.271699	0.10349|0.10349	0.0|0.0	1.2E-4|1.2E-4	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.40756|.	1.02|.	5.55|5.55	4.31|4.31	0.51392|0.51392	.|.	0.453509|.	0.24245|.	N|.	0.040236|.	T|T	0.17408|0.17408	0.0418|0.0418	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999999|0.999999	B|.	0.09022|.	0.002|.	B|.	0.04013|.	0.001|.	T|T	0.19128|0.19128	-1.0315|-1.0315	10|5	0.39692|.	T|.	0.17|.	.|.	5.7709|5.7709	0.18253|0.18253	0.725:0.0:0.1481:0.1269|0.725:0.0:0.1481:0.1269	.|.	3859|.	E9PHH6|.	.|.	N|Q	3859|2087	ENSP00000264895:D3859N|.	ENSP00000264895:D3859N|.	D|R	+|+	1|2	0|0	FRAS1|FRAS1	79680838|79680838	0.001000|0.001000	0.12720|0.12720	1.000000|1.000000	0.80357|0.80357	0.003000|0.003000	0.03518|0.03518	1.166000|1.166000	0.31834|0.31834	1.120000|1.120000	0.41904|0.41904	-0.352000|-0.352000	0.07741|0.07741	GAT|CGA	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding			+	ENST00000264895.6	Missense_Mutation	SNP	4 : 79461814 - 79461814 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	135	39
LRP1B	53353	broad.mit.edu	37	2	141208170	141208170	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141208170A>G	ENST00000389484.3	-	63	10995	c.10024T>C	c.(10024-10026)Tgt>Cgt	p.C3342R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3342	LDL-receptor class A 21.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATCACCACAGTCATCCACG	0.358		NA								TSP Lung(27;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(99;50 2074 2507 20106)							NA				0													128	126	127			NA	NA	2		NA											NA				141208170		2203	4300	6503	SO:0001583	missense			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702	53353	53353		Low density lipoprotein receptors	6693	protein-coding gene	gene with protein product	LRP-deleted in tumors	608766			NA	10766186	Standard	NM_018557	NM_018557	NA	Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10024T>C	2.37:g.141208170A>G	ENSP00000374135:p.Cys3342Arg	NA	Q8WY29|Q8WY30|Q8WY31	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.704899	0.88924	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.99919	-8.0	5.51	5.51	0.81932	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99955	0.9981	H	0.99619	4.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96100	0.9068	10	0.87932	D	0	.	15.9059	0.79430	1.0:0.0:0.0:0.0	.	3342	Q9NZR2	LRP1B_HUMAN	R	3342;3280	ENSP00000374135:C3342R	ENSP00000374135:C3342R	C	-	1	0	LRP1B	140924640	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.245000	0.95431	2.225000	0.72522	0.477000	0.44152	TGT	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254736.2		-	ENST00000389484.3	Missense_Mutation	SNP	2 : 141208170 - 141208170 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	550	165
ABCA5	23461	broad.mit.edu	37	17	67309352	67309352	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67309352T>G	ENST00000392676.3	-	3	252	c.188A>C	c.(187-189)aAt>aCt	p.N63T	ABCA5_ENST00000588877.1_Missense_Mutation_p.N63T|ABCA5_ENST00000392677.2_Missense_Mutation_p.N63T			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	63					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					GAGTTCTATATTAGGCACTTC	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	87	86			NA	NA	17		NA											NA				67309352		2202	4297	6499	SO:0001583	missense			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265	23461	23461		ATP binding cassette transporters / subfamily A	35	protein-coding gene	gene with protein product		612503			NA	8894702	Standard	NM_018672	NM_172232	NA	Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.188A>C	17.37:g.67309352T>G	ENSP00000376443:p.Asn63Thr	NA	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	37	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	T	0.302	-0.973050	0.02215	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.87571	-2.27;-2.27	5.0	5.0	0.66597	.	0.185380	0.37715	N	0.001965	T	0.74253	0.3692	N	0.08118	0	0.27216	N	0.959792	B;B	0.02656	0.0;0.0	B;B	0.10450	0.003;0.005	T	0.58999	-0.7536	9	.	.	.	.	14.367	0.66812	0.0:0.0:0.0:1.0	.	63;63	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	T	63	ENSP00000376444:N63T;ENSP00000376443:N63T	.	N	-	2	0	ABCA5	64820947	0.995000	0.38212	0.826000	0.32828	0.580000	0.36256	3.619000	0.54196	1.879000	0.54435	0.477000	0.44152	AAT	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450654.1		-	ENST00000392676.3	Missense_Mutation	SNP	17 : 67309352 - 67309352 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	222	49
RCC1	1104	broad.mit.edu	37	1	28857092	28857092	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28857092G>A	ENST00000373831.3	+	3	192	c.131G>A	c.(130-132)tGc>tAc	p.C44Y	RCC1_ENST00000398958.2_Intron|RCC1_ENST00000373832.1_Intron|RCC1_ENST00000373833.6_Intron	NM_001048194.2|NM_001048195.2	NP_001041659.1|NP_001041660.1	P18754	RCC1_HUMAN	regulator of chromosome condensation 1	24					cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGGTGCCTGCGGGCCGAGC	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	15	14			NA	NA	1		NA											NA				28857092		2039	4155	6194	SO:0001583	missense			X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198	1104	1104			1913	protein-coding gene	gene with protein product		179710	chromosome condensation 1	CHC1	NA	7851910	Standard	NM_001269	NM_001048199	NA	Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373831.3:c.131G>A	1.37:g.28857092G>A	ENSP00000362937:p.Cys44Tyr	NA	Q16269|Q6NT97	37	CCDS41295.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.343900	0.00222	.	.	ENSG00000180198	ENST00000373831	T	0.51817	0.69	3.96	-0.458	0.12182	.	0.459220	0.18704	N	0.133499	T	0.27900	0.0687	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10200	-1.0640	9	0.40728	T	0.16	-2.1516	3.6345	0.08143	0.3744:0.1895:0.4361:0.0	.	44	P18754-2	.	Y	44	ENSP00000362937:C44Y	ENSP00000362937:C44Y	C	+	2	0	RCC1	28729679	0.020000	0.18652	0.011000	0.14972	0.042000	0.13812	-0.033000	0.12246	-0.057000	0.13199	0.609000	0.83330	TGC	RCC1-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000010324.2		+	ENST00000373831.3	Missense_Mutation	SNP	1 : 28857092 - 28857092 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	198	20
RHOT2	89941	broad.mit.edu	37	16	718508	718508	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:718508G>T	ENST00000315082.4	+	3	231	c.117G>T	c.(115-117)gaG>gaT	p.E39D	RHOT2_ENST00000569943.2_3'UTR	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	39	Miro 1.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				GCGCGGAGGAGATCACCATCC	0.761		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	20	19			NA	NA	16		NA											NA				718508		2111	4220	6331	SO:0001583	missense			BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983	89941	89941		EF-hand domain containing	21169	protein-coding gene	gene with protein product	mitochondrial Rho (MIRO) GTPase 2	613889	chromosome 16 open reading frame 39, ras homolog gene family, member T2	C16orf39, ARHT2	NA	12482879	Standard	NM_138769	NM_138769	NA	Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.117G>T	16.37:g.718508G>T	ENSP00000321971:p.Glu39Asp	NA	A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	37	CCDS10417.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095509	0.36952	.	.	ENSG00000140983	ENST00000315082	T	0.77229	-1.08	3.91	3.91	0.45181	MIRO (1);	0.000000	0.85682	U	0.000000	D	0.82637	0.5080	M	0.63428	1.95	0.49130	D	0.999752	D	0.63880	0.993	P	0.61940	0.896	D	0.83593	0.0124	10	0.72032	D	0.01	-9.6593	8.9251	0.35634	0.1049:0.0:0.8951:0.0	.	39	Q8IXI1	MIRO2_HUMAN	D	39	ENSP00000321971:E39D	ENSP00000321971:E39D	E	+	3	2	RHOT2	658509	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.973000	0.56845	1.744000	0.51775	0.306000	0.20318	GAG	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000241617.1		+	ENST00000315082.4	Missense_Mutation	SNP	16 : 718508 - 718508 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	59
FAM120C	54954	broad.mit.edu	37	X	54185844	54185844	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54185844C>T	ENST00000375180.2	-	2	961	c.905G>A	c.(904-906)gGc>gAc	p.G302D	FAM120C_ENST00000328235.4_Missense_Mutation_p.G302D	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	302										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CCTCTTCAGGCCCAGCTGCTT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	85	92			NA	NA	X		NA											NA				54185844		2203	4300	6503	SO:0001583	missense			AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083	54954	54954			16949	protein-coding gene	gene with protein product		300741	chromosome X open reading frame 17	CXorf17	NA	14585507	Standard	NM_017848	XM_006724589	NA	Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.905G>A	X.37:g.54185844C>T	ENSP00000364324:p.Gly302Asp	NA	B2RMT7	37	CCDS14356.1	.	.	.	.	.	.	.	.	.	.	c	11.40	1.627179	0.28978	.	.	ENSG00000184083	ENST00000375180;ENST00000328235	T;T	0.40476	1.03;1.03	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.34048	0.0884	N	0.20986	0.625	0.80722	D	1	B;B	0.31879	0.159;0.344	B;B	0.36666	0.23;0.217	T	0.11743	-1.0575	10	0.25751	T	0.34	-5.9882	16.37	0.83353	0.0:1.0:0.0:0.0	.	302;302	F8W881;Q9NX05	.;F120C_HUMAN	D	302	ENSP00000364324:G302D;ENSP00000329896:G302D	ENSP00000329896:G302D	G	-	2	0	FAM120C	54202569	0.852000	0.29690	0.995000	0.50966	0.831000	0.47069	1.193000	0.32162	2.118000	0.64928	0.502000	0.49764	GGC	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056795.2		-	ENST00000375180.2	Missense_Mutation	SNP	X : 54185844 - 54185844 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	238	68
ZNF559	84527	broad.mit.edu	37	19	9452958	9452958	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9452958C>T	ENST00000586255.1	+	6	657				ZNF559_ENST00000592896.1_3'UTR|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000587557.1_Silent_p.A341A|ZNF559_ENST00000603380.1_Silent_p.A277A|ZNF559_ENST00000538743.1_Silent_p.A197A|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000393883.2_Silent_p.A277A|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000602738.1_Intron			Q9BR84	ZN559_HUMAN	zinc finger protein 559	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						TTGGCAAAGCCTTTGCTTTTT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	90	88			NA	NA	19		NA											NA				9452958		2203	4300	6503	SO:0001627	intron_variant			AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321	84527	84527		Zinc fingers, C2H2-type, -	28197	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_032497	NM_001202406	NA	Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000586255.1:c.327+1098C>T	19.37:g.9452958C>T		NA		37																																																																																				ZNF559-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000449016.2		+	ENST00000586255.1	Intron	SNP	19 : 9452958 - 9452958 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	453	93
TIAM1	7074	broad.mit.edu	37	21	32492816	32492816	+	Missense_Mutation	SNP	C	C	T	rs143032407	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32492816C>T	ENST00000286827.3	-	29	5117	c.4646G>A	c.(4645-4647)cGc>cAc	p.R1549H	TIAM1_ENST00000541036.1_Missense_Mutation_p.R1489H	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1549					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTGTGCCATGCGGGACGCGTG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	80	72	75		4646	4.9	1	21	dbSNP_134	75	0,8600		0,0,4300	yes	missense	TIAM1	NM_003253.2	29	0,2,6501	TT,TC,CC	NA	0.0,0.0454,0.0154	probably-damaging	1549/1592	32492816	2,13004	2203	4300	6503	SO:0001583	missense				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299	7074	7074		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	11805	protein-coding gene	gene with protein product		600687			NA	8595894, 15340013	Standard	NM_003253	NM_003253	NA	Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.4646G>A	21.37:g.32492816C>T	ENSP00000286827:p.Arg1549His	NA	Q17RT7	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310077	0.81247	4.54E-4	0.0	ENSG00000156299	ENST00000286827;ENST00000541036	T;T	0.45276	0.9;0.92	4.95	4.95	0.65309	.	0.078275	0.46442	D	0.000294	T	0.51193	0.1660	L	0.47716	1.5	0.42271	D	0.992052	D;D	0.65815	0.995;0.991	P;P	0.52672	0.706;0.511	T	0.57165	-0.7858	10	0.87932	D	0	.	18.2147	0.89881	0.0:1.0:0.0:0.0	.	1489;1549	F5GZ53;Q13009	.;TIAM1_HUMAN	H	1549;1489	ENSP00000286827:R1549H;ENSP00000441570:R1489H	ENSP00000286827:R1549H	R	-	2	0	TIAM1	31414687	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.771000	0.47670	2.294000	0.77228	0.655000	0.94253	CGC	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000192552.1		-	ENST00000286827.3	Missense_Mutation	SNP	21 : 32492816 - 32492816 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	367	79
ARID1A	8289	broad.mit.edu	37	1	27092737	27092737	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27092737C>T	ENST00000457599.2	+	9	2758	c.2758C>T	c.(2758-2760)Caa>Taa	p.Q920*	ARID1A_ENST00000324856.7_Nonsense_Mutation_p.Q920*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q537*	NM_139135.2	NP_624361.1	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	920					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAATATGAATCAAGGGGGCAT	0.483		NA	Mis, N, F, S, D		clear cell ovarian carcinoma, RCC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													85	84	85			NA	NA	1		NA											NA				27092737		2203	4300	6503	SO:0001587	stop_gained			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713	8289	8289		-	11110	protein-coding gene	gene with protein product		603024	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1, AT rich interactive domain 1A (SWI- like)	C1orf4, SMARCF1	NA	9630625, 9434167	Standard	NM_139135	NM_139135	NA	Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000457599.2:c.2758C>T	1.37:g.27092737C>T	ENSP00000387636:p.Gln920*	NA	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	37	CCDS44091.1	.	.	.	.	.	.	.	.	.	.	C	42	9.423699	0.99166	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-5.571	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	920;920;537	.	ENSP00000320485:Q920X	Q	+	1	0	ARID1A	26965324	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.305000	0.65750	2.941000	0.99782	0.655000	0.94253	CAA	ARID1A-002	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000011438.2		+	ENST00000457599.2	Nonsense_Mutation	SNP	1 : 27092737 - 27092737 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	304	69
ZMYM1	79830	broad.mit.edu	37	1	35580389	35580389	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35580389T>C	ENST00000373330.1	+	11	3132	c.2958T>C	c.(2956-2958)ttT>ttC	p.F986F	ZMYM1_ENST00000359858.4_Silent_p.F986F|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	986						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTTCGGAGTTTGATTATTGCA	0.244		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	21	22			NA	NA	1		NA											NA				35580389		1790	4044	5834	SO:0001819	synonymous_variant			AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056	79830	79830		Zinc fingers, MYM type	26253	protein-coding gene	gene with protein product			zinc finger, MYM domain containing 1		NA	12477932	Standard	NM_024772	XM_005271216	NA	Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.2958T>C	1.37:g.35580389T>C		NA	D3DPR7|Q7Z3Q4	37	CCDS41302.1																																																																																			ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000012705.1		+	ENST00000373330.1	Silent	SNP	1 : 35580389 - 35580389 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	129	13
GJB6	10804	broad.mit.edu	37	13	20797589	20797589	+	Missense_Mutation	SNP	C	C	T	rs104894415		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20797589C>T	ENST00000356192.6	-	5	651	c.31G>A	c.(31-33)Ggg>Agg	p.G11R	GJB6_ENST00000241124.6_Missense_Mutation_p.G11R|GJB6_ENST00000400066.3_Missense_Mutation_p.G11R|GJB6_ENST00000400065.3_Missense_Mutation_p.G11R	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	11			G -> R (in ED2).	G -> E (in Ref. 9; AAV67951).	cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		TTGACACCCCCGATGAAAGTG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM002605	GJB6	M	rs104894415						124	115	118			NA	NA	13		NA											NA				20797589		2203	4300	6503	SO:0001583	missense			AJ005585	CCDS9291.1	13q12	2010-01-06	2007-11-06		ENSG00000121742	ENSG00000121742	NA	10804		Ion channels / Gap junction proteins (connexins)	4288	protein-coding gene	gene with protein product	connexin 30	604418	ectodermal dysplasia 2, hidrotic (Clouston syndrome), gap junction protein, beta 6 (connexin 30), gap junction protein, beta 6	DFNA3, ED2	NA	10471490, 8845850	Standard		NM_006783	NA	Approved	EDH, HED, CX30	uc001und.4	O95452	OTTHUMG00000016515	ENST00000356192.6:c.31G>A	13.37:g.20797589C>T	ENSP00000348521:p.Gly11Arg	NA	B3KQN2|Q5Q1H9|Q5Q1I0|Q5Q1I1|Q5T5U0|Q8IUP0	37	CCDS9291.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.164711	0.38217	.	.	ENSG00000121742	ENST00000241124;ENST00000400065;ENST00000400066;ENST00000356192	D;D;D;D	0.99060	-5.38;-5.38;-5.38;-5.38	5.38	5.38	0.77491	Connexin, N-terminal (1);	0.134693	0.49916	D	0.000127	D	0.98789	0.9592	L	0.60455	1.87	0.51482	A	0.999923	D	0.89917	1.0	D	0.65010	0.931	D	0.99917	1.1229	9	0.62326	D	0.03	.	12.4904	0.55897	0.0:0.9239:0.0:0.076	.	11	O95452	CXB6_HUMAN	R	11	ENSP00000241124:G11R;ENSP00000382938:G11R;ENSP00000382939:G11R;ENSP00000348521:G11R	ENSP00000241124:G11R	G	-	1	0	GJB6	19695589	0.972000	0.33761	0.859000	0.33776	0.021000	0.10359	2.917000	0.48821	2.507000	0.84556	0.655000	0.94253	GGG	GJB6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000272906.1		-	ENST00000356192.6	Missense_Mutation	SNP	13 : 20797589 - 20797589 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	756	134
ADSL	158	broad.mit.edu	37	22	40749110	40749110	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40749110C>T	ENST00000216194.7	+	3	447	c.391C>T	c.(391-393)Ctt>Ttt	p.L131F	ADSL_ENST00000342312.6_Missense_Mutation_p.L131F|ADSL_ENST00000454266.2_Intron	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	131					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						ACTTGACCTGCTTTTGCCAAA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(4;65 130 1097 1516)							NA				0													118	109	112			NA	NA	22		NA											NA				40749110		2203	4300	6503	SO:0001583	missense			X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	158	158	4.3.2.2		291	protein-coding gene	gene with protein product		608222			NA	8404037	Standard	NM_000026	NM_000026	NA	Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.391C>T	22.37:g.40749110C>T	ENSP00000216194:p.Leu131Phe	NA	B0QY76|O75495|Q5TI34	37	CCDS14001.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762268	0.89932	.	.	ENSG00000239900	ENST00000216194;ENST00000342312	D;D	0.99784	-6.74;-6.74	5.6	5.6	0.85130	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.99854	0.9932	H	0.95151	3.63	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.76575	0.979;0.988;0.988	D	0.96915	0.9670	10	0.87932	D	0	.	17.4818	0.87674	0.0:1.0:0.0:0.0	.	131;131;131	P30566-2;Q71UA4;P30566	.;.;PUR8_HUMAN	F	131	ENSP00000216194:L131F;ENSP00000341429:L131F	ENSP00000216194:L131F	L	+	1	0	ADSL	39079056	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.445000	0.66594	2.818000	0.97014	0.655000	0.94253	CTT	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321386.1		+	ENST00000216194.7	Missense_Mutation	SNP	22 : 40749110 - 40749110 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	267	58
FMN1	342184	broad.mit.edu	37	15	33261663	33261663	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33261663G>A	ENST00000559047.1	-	5	2238	c.2239C>T	c.(2239-2241)Cgg>Tgg	p.R747W	FMN1_ENST00000334528.9_Missense_Mutation_p.R524W|FMN1_ENST00000561249.1_Missense_Mutation_p.R649W			Q68DA7	FMN1_HUMAN	formin 1	747	Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TGAAATGCCCGAAGTTCAAAC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	68	69			NA	NA	15		NA											NA				33261663		1843	4087	5930	SO:0001583	missense			AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905	342184	342184			3768	protein-coding gene	gene with protein product	limb deformity protein	136535	formin (limb deformity)	LD, FMN	NA	1673046	Standard	NM_001103184	NM_001277313	NA	Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2239C>T	15.37:g.33261663G>A	ENSP00000454047:p.Arg747Trp	NA	Q3B7I6|Q3ZAR4|Q6ZSY1	37		.	.	.	.	.	.	.	.	.	.	G	11.70	1.718269	0.30503	.	.	ENSG00000248905	ENST00000334528	T	0.42513	0.97	4.9	0.279	0.15677	.	0.912362	0.09346	N	0.814886	T	0.38639	0.1048	L	0.43152	1.355	.	.	.	D	0.65815	0.995	P	0.46825	0.528	T	0.46952	-0.9154	9	0.87932	D	0	.	7.7095	0.28669	0.0:0.1784:0.3879:0.4336	.	524	Q68DA7-5	.	W	524	ENSP00000333950:R524W	ENSP00000333950:R524W	R	-	1	2	FMN1	31048955	0.000000	0.05858	0.655000	0.29622	0.884000	0.51177	0.100000	0.15231	-0.082000	0.12640	0.555000	0.69702	CGG	FMN1-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000417414.1		-	ENST00000559047.1	Missense_Mutation	SNP	15 : 33261663 - 33261663 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	553	27
FADS3	3995	broad.mit.edu	37	11	61646013	61646013	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61646013C>T	ENST00000527697.1	-	5	697	c.346G>A	c.(346-348)Gtc>Atc	p.V116I	FADS3_ENST00000278829.2_Missense_Mutation_p.V240I|FADS3_ENST00000525588.1_Missense_Mutation_p.V212I|FADS3_ENST00000540820.1_Missense_Mutation_p.V240I			Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	240					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGGAGGAAGACGGGCGCCACC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	104	106			NA	NA	11		NA											NA				61646013		2202	4299	6501	SO:0001583	missense				CCDS8013.1	11q12-q13.1	2013-01-25			ENSG00000221968	ENSG00000221968	3995	3995	1.14.19.3	Fatty acid desaturases	3576	protein-coding gene	gene with protein product	delta-9-desaturase	606150		LLCDL3	NA		Standard		NM_021727	NA	Approved	CYB5RP	uc001nsm.3	Q9Y5Q0	OTTHUMG00000167500	ENST00000527697.1:c.346G>A	11.37:g.61646013C>T	ENSP00000431533:p.Val116Ile	NA	O60426	37		.	.	.	.	.	.	.	.	.	.	C	6.370	0.436452	0.12104	.	.	ENSG00000221968	ENST00000527697;ENST00000278829;ENST00000540820;ENST00000525588;ENST00000531956;ENST00000534223	T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63	4.51	2.62	0.31277	Fatty acid desaturase, type 1 (1);	.	.	.	.	T	0.28928	0.0718	N	0.16307	0.4	0.32096	N	0.59122	B;B	0.12013	0.0;0.005	B;B	0.15870	0.005;0.014	T	0.26677	-1.0096	9	0.27785	T	0.31	-8.0686	8.2672	0.31821	0.1553:0.7602:0.0:0.0845	.	116;240	E9PKP8;Q9Y5Q0	.;FADS3_HUMAN	I	116;240;240;212;116;116	ENSP00000431533:V116I;ENSP00000278829:V240I;ENSP00000439308:V240I;ENSP00000432206:V212I;ENSP00000436890:V116I;ENSP00000434551:V116I	ENSP00000278829:V240I	V	-	1	0	FADS3	61402589	0.000000	0.05858	0.828000	0.32881	0.090000	0.18270	-2.451000	0.01006	0.453000	0.26858	-0.268000	0.10319	GTC	FADS3-012	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000394834.1		-	ENST00000527697.1	Missense_Mutation	SNP	11 : 61646013 - 61646013 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	458	19
MCM6	4175	broad.mit.edu	37	2	136602132	136602132	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136602132G>A	ENST00000264156.2	-	16	2392	c.2332C>T	c.(2332-2334)Cat>Tat	p.H778Y		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	778					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)	GTGAGTCGATGAATAACTTTC	0.418		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													135	127	130			NA	NA	2		NA											NA				136602132		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.2332C>T	2.37:g.136602132G>A	ENSP00000264156:p.His778Tyr	NA	B2R6H2|Q13504|Q99859	37	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416079	0.42817	.	.	ENSG00000076003	ENST00000264156	T	0.03124	4.04	5.74	3.76	0.43208	.	0.417665	0.30227	N	0.010116	T	0.04092	0.0114	L	0.32530	0.975	0.58432	D	0.999996	B	0.02656	0.0	B	0.06405	0.002	T	0.39461	-0.9613	10	0.56958	D	0.05	-2.0985	12.1062	0.53813	0.1072:0.0:0.8928:0.0	.	778	Q14566	MCM6_HUMAN	Y	778	ENSP00000264156:H778Y	ENSP00000264156:H778Y	H	-	1	0	MCM6	136318602	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.682000	0.61671	0.622000	0.30249	0.650000	0.86243	CAT	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254658.1		-	ENST00000264156.2	Missense_Mutation	SNP	2 : 136602132 - 136602132 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	103
MTMR14	64419	broad.mit.edu	37	3	9726338	9726338	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9726338G>A	ENST00000296003.4	+	11	1156	c.1034G>A	c.(1033-1035)cGc>cAc	p.R345H	MTMR14_ENST00000353332.5_Missense_Mutation_p.R345H|MTMR14_ENST00000420925.1_Missense_Mutation_p.R99H|MTMR14_ENST00000351233.5_Missense_Mutation_p.R345H	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	345						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					TCCCTCCTGCGCCTTTCCTTG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	109	110			NA	NA	3		NA											NA				9726338		1976	4146	6122	SO:0001583	missense			BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719	64419	64419		Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins	26190	protein-coding gene	gene with protein product	egg-derived tyrosine phosphatase homolog (Drosophila)	611089	chromosome 3 open reading frame 29	C3orf29	NA	15186772	Standard	NM_022485	NM_022485	NA	Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.1034G>A	3.37:g.9726338G>A	ENSP00000296003:p.Arg345His	NA	Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	37	CCDS43043.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139862	0.94560	.	.	ENSG00000163719	ENST00000353332;ENST00000420925;ENST00000296003;ENST00000351233;ENST00000419048;ENST00000431250	D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7	5.72	5.72	0.89469	.	0.046924	0.85682	D	0.000000	D	0.95900	0.8665	M	0.83483	2.645	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.996;1.0;1.0	D	0.95919	0.8929	10	0.87932	D	0	-2.6883	19.8766	0.96875	0.0:0.0:1.0:0.0	.	99;345;345;345	C9JSR1;Q8NCE2-3;Q8NCE2-2;Q8NCE2	.;.;.;MTMRE_HUMAN	H	345;99;345;345;345;117	ENSP00000323462:R345H;ENSP00000401993:R99H;ENSP00000296003:R345H;ENSP00000334070:R345H;ENSP00000388746:R117H	ENSP00000296003:R345H	R	+	2	0	MTMR14	9701338	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.114000	0.94329	2.698000	0.92095	0.561000	0.74099	CGC	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000338435.1		+	ENST00000296003.4	Missense_Mutation	SNP	3 : 9726338 - 9726338 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	479	83
ENOSF1	55556	broad.mit.edu	37	18	706481	706481	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:706481C>T	ENST00000251101.7	-	2	270	c.182G>A	c.(181-183)gGc>gAc	p.G61D	ENOSF1_ENST00000340116.7_Missense_Mutation_p.G82D|ENOSF1_ENST00000580982.1_Missense_Mutation_p.G61D|ENOSF1_ENST00000539164.1_Missense_Mutation_p.G61D|ENOSF1_ENST00000383578.3_Missense_Mutation_p.A18T	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	61					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						AACTTCAGTGCCTTTTCCCAG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	122	130			NA	NA	18		NA											NA				706481		2203	4300	6503	SO:0001583	missense			X67098	CCDS11822.1, CCDS11823.1, CCDS45821.1	18p11.32	2005-01-26			ENSG00000132199	ENSG00000132199	55556	55556			30365	protein-coding gene	gene with protein product		607427			NA	14508106	Standard	NM_017512	NM_001126123	NA	Approved	HSRTSBETA, rTS, TYMSAS	uc002kku.4	Q7L5Y1	OTTHUMG00000131470	ENST00000251101.7:c.182G>A	18.37:g.706481C>T	ENSP00000251101:p.Gly61Asp	NA	A8K9R5|D3DUH0|Q15407|Q15594|Q15595|Q9HAS5|Q9HAS6	37	CCDS11822.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.05|13.05	2.120108|2.120108	0.37436|0.37436	.|.	.|.	ENSG00000132199|ENSG00000132199	ENST00000383578|ENST00000251101;ENST00000340116;ENST00000539164	T|T;T;T	0.30182|0.46063	1.54|0.88;0.88;0.88	5.56|5.56	4.69|4.69	0.59074|0.59074	.|Mandelate racemase/muconate lactonizing enzyme, N-terminal (1);	.|0.049387	.|0.85682	.|N	.|0.000000	T|T	0.64000|0.64000	0.2559|0.2559	.|.	.|.	.|.	0.43708|0.43708	D|D	0.996177|0.996177	B|D;D;D	0.14805|0.76494	0.011|0.999;0.997;0.998	B|D;D;D	0.11329|0.72338	0.006|0.977;0.962;0.957	T|T	0.68800|0.68800	-0.5313|-0.5313	8|9	0.62326|0.87932	D|D	0.03|0	.|.	12.9562|12.9562	0.58430|0.58430	0.0:0.921:0.0:0.079|0.0:0.921:0.0:0.079	.|.	18|82;106;61	Q7L5Y1-2|A6NMP3;Q6ZS08;Q7L5Y1	.|.;.;ENOF1_HUMAN	T|D	18|61;82;61	ENSP00000373072:A18T|ENSP00000251101:G61D;ENSP00000345974:G82D;ENSP00000446321:G61D	ENSP00000373072:A18T|ENSP00000251101:G61D	A|G	-|-	1|2	0|0	ENOSF1|ENOSF1	696481|696481	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.981000|0.981000	0.71138|0.71138	4.071000|4.071000	0.57556|0.57556	1.344000|1.344000	0.45657|0.45657	0.561000|0.561000	0.74099|0.74099	GCA|GGC	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254312.2		-	ENST00000251101.7	Missense_Mutation	SNP	18 : 706481 - 706481 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	545	90
NIN	51199	broad.mit.edu	37	14	51239168	51239168	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51239168G>A	ENST00000530997.2	-	7	831	c.832C>T	c.(832-834)Cga>Tga	p.R278*	NIN_ENST00000245441.5_Nonsense_Mutation_p.R278*|NIN_ENST00000453196.1_Nonsense_Mutation_p.R278*|NIN_ENST00000324330.9_Nonsense_Mutation_p.R278*|NIN_ENST00000389868.3_Nonsense_Mutation_p.R278*|NIN_ENST00000382043.4_Nonsense_Mutation_p.R278*|NIN_ENST00000382041.3_Nonsense_Mutation_p.R278*			Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	278					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GTGGTACGTCGTCCACTCTCA	0.498		NA	T	PDGFRB	MPD									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0													98	78	85			NA	NA	14		NA											NA				51239168		2203	4300	6503	SO:0001587	stop_gained			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503	51199	51199		EF-hand domain containing	14906	protein-coding gene	gene with protein product		608684			NA	11004522, 11162463	Standard	NM_182946	NM_020921	NA	Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000530997.2:c.832C>T	14.37:g.51239168G>A	ENSP00000436092:p.Arg278*	NA	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	37		.	.	.	.	.	.	.	.	.	.	G	38	6.661193	0.97743	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196;ENST00000453401	.	.	.	5.55	3.4	0.38934	.	0.052990	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3615	13.1678	0.59581	0.0:0.0:0.4918:0.5082	.	.	.	.	X	278;278;278;278;284;278;278;278;240	.	ENSP00000245441:R278X	R	-	1	2	NIN	50308918	0.993000	0.37304	0.981000	0.43875	0.757000	0.42996	2.152000	0.42272	1.170000	0.42753	0.563000	0.77884	CGA	NIN-017	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000395210.2		-	ENST00000530997.2	Nonsense_Mutation	SNP	14 : 51239168 - 51239168 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	221	39
ITCH	83737	broad.mit.edu	37	20	33045246	33045246	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33045246G>A	ENST00000374864.4	+	13	1475	c.1262G>A	c.(1261-1263)cGa>cAa	p.R421Q	ITCH_ENST00000535650.1_Missense_Mutation_p.R311Q|ITCH_ENST00000262650.6_Missense_Mutation_p.R462Q|ITCH_ENST00000483727.1_3'UTR	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	462	Required for interaction with FYN.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						CACAACACACGAATTACACAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	74	79			NA	NA	20		NA											NA				33045246		2203	4300	6503	SO:0001583	missense			AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747	83737	83737			13890	protein-coding gene	gene with protein product		606409	itchy (mouse homolog) E3 ubiquitin protein ligase, itchy E3 ubiquitin protein ligase homolog (mouse)		NA	11318614	Standard		NM_001257137	NA	Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000374864.4:c.1262G>A	20.37:g.33045246G>A	ENSP00000363998:p.Arg421Gln	NA	A6NEW4|E1P5P3|O43584|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	37	CCDS13234.1	.	.	.	.	.	.	.	.	.	.	G	36	5.899721	0.97081	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	D;D;D	0.82893	-1.66;-1.66;-1.66	5.73	5.73	0.89815	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	D	0.90587	0.7049	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.984	D;D;P	0.72982	0.979;0.962;0.882	D	0.90880	0.4753	10	0.87932	D	0	.	19.4831	0.95018	0.0:0.0:1.0:0.0	.	373;462;421	B4DN85;Q96J02;Q5QP37	.;ITCH_HUMAN;.	Q	421;311;462	ENSP00000363998:R421Q;ENSP00000445608:R311Q;ENSP00000262650:R462Q	ENSP00000262650:R462Q	R	+	2	0	ITCH	32508907	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.804000	0.99143	2.720000	0.93068	0.591000	0.81541	CGA	ITCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078782.1		+	ENST00000374864.4	Missense_Mutation	SNP	20 : 33045246 - 33045246 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	161	32
EBPL	84650	broad.mit.edu	37	13	50235155	50235155	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50235155T>G	ENST00000242827.6	-	4	620	c.570A>C	c.(568-570)gaA>gaC	p.E190D	EBPL_ENST00000378270.5_3'UTR|EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378284.2_3'UTR|EBPL_ENST00000378272.5_3'UTR	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	190					sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity			endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		TTTTCTTGAGTTCTAGCCATG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(39;857 1083 36109 42364 51411)							NA				0													64	64	64			NA	NA	13		NA											NA				50235155		2203	4300	6503	SO:0001583	missense			AF243433	CCDS9420.1, CCDS61334.1	13q12-q13	2008-02-05			ENSG00000123179	ENSG00000123179	84650	84650			18061	protein-coding gene	gene with protein product					NA		Standard	NM_032565	NM_032565	NA	Approved	EBRP	uc001vdg.3	Q9BY08	OTTHUMG00000016920	ENST00000242827.6:c.570A>C	13.37:g.50235155T>G	ENSP00000242827:p.Glu190Asp	NA	A6NJ59|Q569H7|Q5JVN2|Q5JVN3|Q5JVN4|Q5JVN5|Q5JVN6	37	CCDS9420.1	.	.	.	.	.	.	.	.	.	.	T	12.42	1.932681	0.34096	.	.	ENSG00000123179	ENST00000242827	D	0.98207	-4.79	5.61	0.32	0.15878	.	0.239187	0.43110	D	0.000610	D	0.94847	0.8335	L	0.47016	1.485	0.80722	D	1	B	0.16166	0.016	B	0.17433	0.018	D	0.87792	0.2619	10	0.25751	T	0.34	-3.3949	6.6785	0.23108	0.0:0.2645:0.1192:0.6163	.	190	Q9BY08	EBPL_HUMAN	D	190	ENSP00000242827:E190D	ENSP00000242827:E190D	E	-	3	2	EBPL	49133156	0.571000	0.26659	0.994000	0.49952	0.958000	0.62258	0.552000	0.23376	0.139000	0.18822	0.528000	0.53228	GAA	EBPL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044932.2		-	ENST00000242827.6	Missense_Mutation	SNP	13 : 50235155 - 50235155 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	303	43
UHMK1	127933	broad.mit.edu	37	1	162467986	162467986	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162467986G>A	ENST00000489294.1	+	1	354	c.196G>A	c.(196-198)Gcc>Acc	p.A66T	UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000538489.1_Missense_Mutation_p.A66T|UHMK1_ENST00000545294.1_Intron	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	66	Protein kinase.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CGGGGCTGCGGCCTCTGCCGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	18	17			NA	NA	1		NA											NA				162467986		2202	4300	6502	SO:0001583	missense			BC026046	CCDS1239.1, CCDS53423.1, CCDS53424.1	1q23.1	2013-02-12			ENSG00000152332	ENSG00000152332	127933	127933		RNA binding motif (RRM) containing	19683	protein-coding gene	gene with protein product		608849			NA	12093740, 12782393	Standard	NM_175866	NM_175866	NA	Approved	KIS, Kist	uc001gcc.2	Q8TAS1	OTTHUMG00000031373	ENST00000489294.1:c.196G>A	1.37:g.162467986G>A	ENSP00000420270:p.Ala66Thr	NA	A8K8K4|Q96C22	37	CCDS1239.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983902	0.53827	.	.	ENSG00000152332	ENST00000538489;ENST00000489294	T;T	0.65732	-0.17;-0.17	4.94	4.0	0.46444	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.177523	0.50627	D	0.000113	T	0.34019	0.0883	L	0.41079	1.255	.	.	.	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25012	-1.0144	9	0.41790	T	0.15	-7.9138	10.5334	0.44990	0.0:0.0:0.8071:0.1929	.	66;66	Q8TAS1-2;Q8TAS1	.;UHMK1_HUMAN	T	66	ENSP00000446416:A66T;ENSP00000420270:A66T	ENSP00000420270:A66T	A	+	1	0	UHMK1	160734610	.	.	0.596000	0.28811	0.984000	0.73092	.	.	1.368000	0.46115	0.655000	0.94253	GCC	UHMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076788.1		+	ENST00000489294.1	Missense_Mutation	SNP	1 : 162467986 - 162467986 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	222	55
NADK2	133686	broad.mit.edu	37	5	36225652	36225652	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36225652A>G	ENST00000506945.1	-	4	435	c.63T>C	c.(61-63)gaT>gaC	p.D21D	NADK2_ENST00000381937.4_Silent_p.D184D|NADK2_ENST00000514504.1_Silent_p.D184D|NADK2_ENST00000282512.3_Silent_p.D21D|NADK2_ENST00000397338.1_Silent_p.D21D					NAD kinase 2, mitochondrial	NA											NA						ACCGTTCTGGATCAGTGTTTA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	143	149			NA	NA	5		NA											NA				36225652		2203	4300	6503	SO:0001819	synonymous_variant			BC062567	CCDS3917.1, CCDS47197.1, CCDS75235.1	5p13.2	2013-04-30	2013-04-30	2013-04-30	ENSG00000152620	ENSG00000152620	133686	133686			26404	protein-coding gene	gene with protein product	mitochondrial NAD kinase	615787	chromosome 5 open reading frame 33, NAD kinase domain containing 1	C5orf33, NADKD1	NA	23616928	Standard	NM_153013	NM_001085411	NA	Approved	FLJ30596, MNADK	uc003jkf.4	Q4G0N4	OTTHUMG00000131105	ENST00000506945.1:c.63T>C	5.37:g.36225652A>G		NA		37																																																																																				NADK2-002	NOVEL	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000367540.1		-	ENST00000506945.1	Silent	SNP	5 : 36225652 - 36225652 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	552	38
CLVS1	157807	broad.mit.edu	37	8	62212434	62212434	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:62212434G>T	ENST00000519846.1	+	3	520	c.48G>T	c.(46-48)tgG>tgT	p.W16C	CLVS1_ENST00000325897.4_Missense_Mutation_p.W16C|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	16					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TAAACACTTGGAACGGAGATT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	57	57			NA	NA	8		NA											NA				62212434		2203	4300	6503	SO:0001583	missense			AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182	157807	157807			23139	protein-coding gene	gene with protein product		611292	retinaldehyde binding protein 1-like 1	RLBP1L1	NA	16802092, 19651769	Standard	NM_173519	NM_173519	NA	Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.48G>T	8.37:g.62212434G>T	ENSP00000428402:p.Trp16Cys	NA	B2R7M5|C8UZT3|Q8NB32	37	CCDS6176.1	.	.	.	.	.	.	.	.	.	.	G	9.768	1.171922	0.21704	.	.	ENSG00000177182	ENST00000522621;ENST00000519846;ENST00000325897	T;T	0.79247	-1.25;-1.25	5.79	1.84	0.25277	.	0.842461	0.10876	N	0.624284	T	0.67163	0.2864	L	0.29908	0.895	0.58432	D	0.999995	P;P;P	0.50156	0.844;0.9;0.932	B;B;B	0.43783	0.22;0.431;0.321	T	0.60586	-0.7234	10	0.35671	T	0.21	4.8743	9.1951	0.37224	0.1096:0.2314:0.659:0.0	.	16;16;16	E5RK22;Q8IUQ0;Q8IUQ0-2	.;CLVS1_HUMAN;.	C	16	ENSP00000428402:W16C;ENSP00000325506:W16C	ENSP00000325506:W16C	W	+	3	0	CLVS1	62374988	1.000000	0.71417	0.293000	0.24932	0.595000	0.36748	3.253000	0.51469	0.741000	0.32674	-0.176000	0.13171	TGG	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378323.1		+	ENST00000519846.1	Missense_Mutation	SNP	8 : 62212434 - 62212434 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	252	43
GNAT1	2779	broad.mit.edu	37	3	50230697	50230697	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50230697G>T	ENST00000433068.1	+	3	205		c.e3-1		GNAT1_ENST00000232461.3_Splice_Site	NM_000172.3	NP_000163.2	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	NA					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CTCGGCCTCAGGATTATCCAC	0.612		NA									OREG0015579	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	92	94			NA	NA	3		NA											NA				50230697		2203	4300	6503	SO:0001630	splice_region_variant				CCDS2812.1	3p21	2014-01-28			ENSG00000114349	ENSG00000114349	2779	2779			4393	protein-coding gene	gene with protein product		139330			NA		Standard	NM_000172	NM_000172	NA	Approved	CSNBAD3	uc003cyl.2	P11488	OTTHUMG00000156808	ENST00000433068.1:c.150-1G>T	3.37:g.50230697G>T		968	Q4VBN2	37	CCDS2812.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043107	0.75732	.	.	ENSG00000114349	ENST00000232461;ENST00000433068;ENST00000440836	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.093	0.89480	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GNAT1	50205701	1.000000	0.71417	0.997000	0.53966	0.754000	0.42855	9.668000	0.98619	2.573000	0.86826	0.655000	0.94253	.	GNAT1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345957.1	Intron	+	ENST00000433068.1	Splice_Site	SNP	3 : 50230697 - 50230697 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	482	79
CORO7	79585	broad.mit.edu	37	16	4409543	4409543	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4409543C>T	ENST00000251166.4	-	22	2333	c.2188G>A	c.(2188-2190)Gct>Act	p.A730T	CORO7_ENST00000537233.2_Missense_Mutation_p.A712T|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.A730T|CORO7_ENST00000574025.1_Missense_Mutation_p.A645T|CORO7_ENST00000539968.1_Missense_Mutation_p.A510T	NM_024535.4	NP_078811.3			coronin 7	NA										breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						GTTGAGGGAGCCACGTCCAGG	0.667		NA									OREG0023580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	38	37			NA	NA	16		NA											NA				4409543		2197	4298	6495	SO:0001583	missense			AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246	79585	79585		Coronins, WD repeat domain containing	26161	protein-coding gene	gene with protein product		611668			NA	15327992	Standard	NM_024535	NM_024535	NA	Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.2188G>A	16.37:g.4409543C>T	ENSP00000251166:p.Ala730Thr	618		37	CCDS10513.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990845	0.74703	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968	T;T	0.30714	1.52;1.52	5.61	5.61	0.85477	WD40/YVTN repeat-like-containing domain (1);Domain of unknown function DUF1900 (1);	1.895140	0.02286	N	0.069820	T	0.61825	0.2378	M	0.70787	2.145	0.80722	D	1	D;D;D;D;D	0.89917	0.971;1.0;1.0;0.989;0.99	P;D;D;P;P	0.91635	0.796;0.999;0.993;0.824;0.897	T	0.18209	-1.0344	10	0.52906	T	0.07	-16.4401	14.1279	0.65233	0.1503:0.8497:0.0:0.0	.	645;712;510;730;711	P57737-2;B4DFD6;B3KUH7;P57737;B4DKU9	.;.;.;CORO7_HUMAN;.	T	730;645;510	ENSP00000251166:A730T;ENSP00000446221:A510T	ENSP00000251166:A730T	A	-	1	0	CORO7	4349544	1.000000	0.71417	0.989000	0.46669	0.010000	0.07245	4.287000	0.59001	2.649000	0.89929	0.655000	0.94253	GCT	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251628.2		-	ENST00000251166.4	Missense_Mutation	SNP	16 : 4409543 - 4409543 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	48
OR9K2	441639	broad.mit.edu	37	12	55524378	55524378	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55524378C>T	ENST00000305377.5	+	1	914	c.826C>T	c.(826-828)Ctg>Ttg	p.L276L		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TGTGAGTGTGCTGTATGGTGC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													197	175	183			NA	NA	12		NA											NA				55524378		2203	4300	6503	SO:0001819	synonymous_variant			BK004326	CCDS31814.1	12q13.2	2012-08-09					441639	441639		GPCR / Class A : Olfactory receptors	15339	protein-coding gene	gene with protein product					NA		Standard		NM_001005243	NA	Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.826C>T	12.37:g.55524378C>T		NA	B9EH19|Q6IFD6	37	CCDS31814.1																																																																																			OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406105.1		+	ENST00000305377.5	Silent	SNP	12 : 55524378 - 55524378 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	562	132
AADACL3	126767	broad.mit.edu	37	1	12780892	12780892	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12780892C>A	ENST00000332530.3	+	2	238	c.12C>A	c.(10-12)caC>caA	p.H4Q	AADACL3_ENST00000359318.5_Missense_Mutation_p.H74Q	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	74							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TAGAAACCCACCATGGCATAT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	110	109			NA	NA	1		NA											NA				12780892		1898	4124	6022	SO:0001583	missense				CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984	126767	126767			32037	protein-coding gene	gene with protein product					NA		Standard	NM_001103170	XM_006710337	NA	Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000332530.3:c.12C>A	1.37:g.12780892C>A	ENSP00000333352:p.His4Gln	NA	B3KXR9|Q5VUY1	37	CCDS41252.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769079	0.49680	.	.	ENSG00000188984	ENST00000332530;ENST00000359318	T;T	0.10382	2.88;2.88	5.23	2.27	0.28462	Alpha/beta hydrolase fold-3 (1);	0.855661	0.10581	N	0.657924	T	0.34919	0.0914	M	0.90814	3.15	0.09310	N	1	B;D	0.62365	0.04;0.991	B;D	0.64506	0.062;0.926	T	0.09357	-1.0678	10	0.66056	D	0.02	-0.5016	7.4747	0.27369	0.0:0.5493:0.0:0.4507	.	74;4	Q5VUY0;Q5VUY0-2	ADCL3_HUMAN;.	Q	4;74	ENSP00000333352:H4Q;ENSP00000352268:H74Q	ENSP00000333352:H4Q	H	+	3	2	AADACL3	12703479	0.001000	0.12720	0.002000	0.10522	0.976000	0.68499	0.092000	0.15066	0.196000	0.20367	0.491000	0.48974	CAC	AADACL3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005323.1		+	ENST00000332530.3	Missense_Mutation	SNP	1 : 12780892 - 12780892 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	547	96
PRPF38B	55119	broad.mit.edu	37	1	109241798	109241798	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109241798C>A	ENST00000370021.1	+	7	1101	c.464C>A	c.(463-465)tCt>tAt	p.S155Y	PRPF38B_ENST00000370025.4_Missense_Mutation_p.S266Y			Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	266					mRNA processing|RNA splicing	spliceosomal complex				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		CCAAGGAGATCTCTGAGTCCA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	61	59			NA	NA	1		NA											NA				109241798		2203	4300	6503	SO:0001583	missense			AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186	55119	55119			25512	protein-coding gene	gene with protein product			PRP38 pre-mRNA processing factor 38 (yeast) domain containing B		NA		Standard	NM_018061	NM_018061	NA	Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370021.1:c.464C>A	1.37:g.109241798C>A	ENSP00000359038:p.Ser155Tyr	NA	Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	37		.	.	.	.	.	.	.	.	.	.	C	18.12	3.552818	0.65425	.	.	ENSG00000134186	ENST00000370025;ENST00000370021	T;T	0.14516	4.11;2.5	5.39	5.39	0.77823	.	0.122294	0.56097	D	0.000029	T	0.15696	0.0378	L	0.29908	0.895	0.58432	D	0.999999	D	0.61697	0.99	P	0.56398	0.797	T	0.01472	-1.1346	10	0.66056	D	0.02	.	19.5074	0.95125	0.0:1.0:0.0:0.0	.	266	Q5VTL8	PR38B_HUMAN	Y	266;155	ENSP00000359042:S266Y;ENSP00000359038:S155Y	ENSP00000359038:S155Y	S	+	2	0	PRPF38B	109043321	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.283000	0.65621	2.698000	0.92095	0.591000	0.81541	TCT	PRPF38B-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000030232.2		+	ENST00000370021.1	Missense_Mutation	SNP	1 : 109241798 - 109241798 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	388	16
CHERP	10523	broad.mit.edu	37	19	16641582	16641582	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16641582G>A	ENST00000198939.6	-	6	853	c.817C>T	c.(817-819)Cgg>Tgg	p.R273W	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000546361.2_Missense_Mutation_p.R262W			Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	262	CID.				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						CCACGCACCCGGGCGATCTTC	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	42	40			NA	NA	19		NA											NA				16641582		1923	4121	6044	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.817C>T	19.37:g.16641582G>A	ENSP00000198939:p.Arg273Trp	NA	O00302|Q4G0Y5|Q8WU30|Q99492	37		.	.	.	.	.	.	.	.	.	.	G	19.11	3.763163	0.69763	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.50277	0.75;0.75	5.07	4.0	0.46444	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);Domain of unknown function DUF618 (1);	.	.	.	.	T	0.55130	0.1901	L	0.29908	0.895	0.51233	D	0.999911	D	0.89917	1.0	D	0.78314	0.991	T	0.58601	-0.7608	9	0.87932	D	0	-35.1449	12.3355	0.55065	0.0:0.0:0.6762:0.3238	.	262	Q8IWX8	CHERP_HUMAN	W	262;273	ENSP00000439856:R262W;ENSP00000198939:R273W	ENSP00000198939:R273W	R	-	1	2	CHERP	16502582	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	2.209000	0.42806	1.104000	0.41587	0.462000	0.41574	CGG	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000403372.1		-	ENST00000198939.6	Missense_Mutation	SNP	19 : 16641582 - 16641582 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	453	86
ZNF841	284371	broad.mit.edu	37	19	52568529	52568529	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52568529C>T	ENST00000594295.1	-	6	3008	c.2606G>A	c.(2605-2607)cGa>cAa	p.R869Q	ZNF841_ENST00000389534.4_Missense_Mutation_p.R869Q|ZNF841_ENST00000359973.2_Missense_Mutation_p.R445Q|ZNF841_ENST00000426391.2_Missense_Mutation_p.R753Q|ZNF432_ENST00000598446.1_Intron			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	753					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						AGAATGAATTCGTTGGTGTTT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													185	157	165			NA	NA	19		NA											NA				52568529		692	1591	2283	SO:0001583	missense			AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608	284371	284371		Zinc fingers, C2H2-type, -	27611	protein-coding gene	gene with protein product					NA		Standard	XM_209155	NM_001136499	NA	Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000594295.1:c.2606G>A	19.37:g.52568529C>T	ENSP00000470746:p.Arg869Gln	NA	B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	37	CCDS46161.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.485949	0.26686	.	.	ENSG00000197608	ENST00000389534;ENST00000426391;ENST00000359973	T;T;T	0.24723	1.84;1.84;1.84	1.66	-1.13	0.09775	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34279	0.0892	L	0.61036	1.89	0.09310	N	1	P;D;P	0.69078	0.705;0.997;0.616	B;P;B	0.56127	0.068;0.792;0.058	T	0.19192	-1.0313	9	0.72032	D	0.01	.	5.1842	0.15176	0.0:0.4601:0.3968:0.1431	.	869;445;753	Q6ZN19-3;Q6ZN19-2;Q6ZN19	.;.;ZN841_HUMAN	Q	869;753;445	ENSP00000374185:R869Q;ENSP00000415453:R753Q;ENSP00000353060:R445Q	ENSP00000353060:R445Q	R	-	2	0	ZNF841	57260341	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.150000	0.01290	-0.436000	0.07254	-0.502000	0.04539	CGA	ZNF841-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462437.2		-	ENST00000594295.1	Missense_Mutation	SNP	19 : 52568529 - 52568529 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	143	29
SLC26A3	1811	broad.mit.edu	37	7	107416977	107416977	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107416977C>A	ENST00000340010.5	-	15	1781	c.1597G>T	c.(1597-1599)Gaa>Taa	p.E533*	SLC26A3_ENST00000422236.2_Nonsense_Mutation_p.E498*	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	533	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.E533K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TTCACTCCTTCTGGCTCATAC	0.378		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)											115	108	111			NA	NA	7		NA											NA				107416977		2203	4300	6503	SO:0001587	stop_gained			L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138	1811	1811		Solute carriers	3018	protein-coding gene	gene with protein product		126650	congenital chloride diarrhea, solute carrier family 26, member 3	DRA, CLD	NA	8020951, 11087667	Standard	NM_000111	NM_000111	NA	Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1597G>T	7.37:g.107416977C>A	ENSP00000345873:p.Glu533*	NA		37	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	C	35	5.477904	0.96291	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	.	.	.	5.82	4.93	0.64822	.	0.397106	0.29948	N	0.010784	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	13.2746	0.60180	0.0:0.8209:0.1142:0.0649	.	.	.	.	X	498;533	.	ENSP00000345873:E533X	E	-	1	0	SLC26A3	107204213	0.993000	0.37304	0.710000	0.30468	0.048000	0.14542	2.976000	0.49289	0.827000	0.34685	-1.094000	0.02160	GAA	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337190.1		-	ENST00000340010.5	Nonsense_Mutation	SNP	7 : 107416977 - 107416977 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	301	55
SCP2	6342	broad.mit.edu	37	1	53443951	53443951	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53443951G>A	ENST00000528311.1	+	8	790	c.494G>A	c.(493-495)gGc>gAc	p.G165D	SCP2_ENST00000371513.5_Missense_Mutation_p.G202D|SCP2_ENST00000473584.1_3'UTR|SCP2_ENST00000371514.3_Missense_Mutation_p.G246D|SCP2_ENST00000407246.2_Missense_Mutation_p.G222D|SCP2_ENST00000371509.4_Missense_Mutation_p.G202D	NM_001193617.1	NP_001180546.1	P22307	NLTP_HUMAN	sterol carrier protein 2	246					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						CAGAAGTATGGCCTGCAATCC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	94	95			NA	NA	1		NA											NA				53443951		2203	4300	6503	SO:0001583	missense			M75884	CCDS572.1, CCDS30719.1, CCDS41338.1, CCDS44149.1, CCDS44150.1, CCDS53317.1, CCDS53318.1, CCDS53319.1	1p32	2010-08-20			ENSG00000116171	ENSG00000116171	6342	6342			10606	protein-coding gene	gene with protein product		184755			NA	1703300, 1718316	Standard	NM_002979	NM_001007098	NA	Approved		uc001cur.2	P22307	OTTHUMG00000008936	ENST00000528311.1:c.494G>A	1.37:g.53443951G>A	ENSP00000434132:p.Gly165Asp	NA	D3DQ37|Q15432|Q16622|Q5VVZ1|Q99430	37	CCDS53319.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.627|5.627	0.300414|0.300414	0.10678|0.10678	.|.	.|.	ENSG00000116171|ENSG00000116171	ENST00000529363|ENST00000371514;ENST00000528311;ENST00000371509;ENST00000407246;ENST00000371513	.|D;T;D;D;D	.|0.95885	.|-3.84;-0.6;-3.84;-3.84;-3.84	5.17|5.17	-1.38|-1.38	0.09027|0.09027	.|Thiolase-like (1);	.|0.789478	.|0.12497	.|N	.|0.463694	D|D	0.94072|0.94072	0.8100|0.8100	M|M	0.79693|0.79693	2.465|2.465	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.31174	.|0.311;0.027;0.059;0.021	.|B;B;B;B	.|0.31442	.|0.13;0.009;0.033;0.02	D|D	0.87879|0.87879	0.2676|0.2676	5|10	.|0.52906	.|T	.|0.07	0.0831|0.0831	11.4404|11.4404	0.50094|0.50094	0.5016:0.0:0.4984:0.0|0.5016:0.0:0.4984:0.0	.|.	.|222;202;246;202	.|C9JC79;A6NM69;P22307;Q6NXF4	.|.;.;NLTP_HUMAN;.	T|D	192|246;165;202;222;202	.|ENSP00000360569:G246D;ENSP00000434132:G165D;ENSP00000360564:G202D;ENSP00000384569:G222D;ENSP00000360568:G202D	.|ENSP00000360564:G202D	A|G	+|+	1|2	0|0	SCP2|SCP2	53216539|53216539	0.007000|0.007000	0.16637|0.16637	0.004000|0.004000	0.12327|0.12327	0.059000|0.059000	0.15707|0.15707	0.695000|0.695000	0.25527|0.25527	-0.111000|-0.111000	0.12001|0.12001	-0.781000|-0.781000	0.03364|0.03364	GCC|GGC	SCP2-010	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387558.1		+	ENST00000528311.1	Missense_Mutation	SNP	1 : 53443951 - 53443951 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	247	21
CUL1	8454	broad.mit.edu	37	7	148454093	148454093	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148454093G>A	ENST00000325222.4	+	4	613	c.334G>A	c.(334-336)Gat>Aat	p.D112N	CUL1_ENST00000602748.1_Missense_Mutation_p.D112N|CUL1_ENST00000409469.1_Missense_Mutation_p.D112N	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	112					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AGATTTGATGGATGAGAGTGT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	132	131			NA	NA	7		NA											NA				148454093		2203	4300	6503	SO:0001583	missense			U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130	8454	8454			2551	protein-coding gene	gene with protein product		603134			NA	8681378	Standard	NM_003592	NM_003592	NA	Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.334G>A	7.37:g.148454093G>A	ENSP00000326804:p.Asp112Asn	NA	D3DWG3|O60719|Q08AL6|Q8IYW1	37	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139977	0.77775	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583	T;T	0.32515	1.45;1.45	4.74	4.74	0.60224	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	L	0.39514	1.22	0.80722	D	1	P	0.35844	0.524	B	0.42112	0.376	T	0.08994	-1.0695	10	0.36615	T	0.2	-36.0131	18.0881	0.89464	0.0:0.0:1.0:0.0	.	112	Q13616	CUL1_HUMAN	N	112;112;70	ENSP00000387160:D112N;ENSP00000326804:D112N	ENSP00000326804:D112N	D	+	1	0	CUL1	148085026	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.514000	0.98013	2.360000	0.80028	0.650000	0.86243	GAT	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000467785.1		+	ENST00000325222.4	Missense_Mutation	SNP	7 : 148454093 - 148454093 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	492	100
NOV	4856	broad.mit.edu	37	8	120430340	120430340	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120430340G>A	ENST00000259526.3	+	3	580	c.353G>A	c.(352-354)cGc>cAc	p.R118H		NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	nephroblastoma overexpressed	118	VWFC.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTCATCTACCGCAGTGGAGAG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	105	104			NA	NA	8		NA											NA				120430340		2203	4300	6503	SO:0001583	missense			X96584	CCDS6328.1	8q24.12	2012-02-27	2012-02-27		ENSG00000136999	ENSG00000136999	4856	4856			7885	protein-coding gene	gene with protein product		164958	nephroblastoma overexpressed gene		NA	1334251	Standard	NM_002514	NM_002514	NA	Approved	IGFBP9, CCN3	uc003yoq.2	P48745	OTTHUMG00000164984	ENST00000259526.3:c.353G>A	8.37:g.120430340G>A	ENSP00000259526:p.Arg118His	NA	B2R5X7|Q6I9S3|Q96BY5|Q9UDE4	37	CCDS6328.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260726	0.80246	.	.	ENSG00000136999	ENST00000259526	T	0.72505	-0.66	5.51	2.63	0.31362	von Willebrand factor, type C (3);	0.251742	0.42821	N	0.000660	T	0.61776	0.2374	L	0.50333	1.59	0.40710	D	0.982568	B	0.24368	0.102	B	0.23419	0.046	T	0.56498	-0.7969	10	0.44086	T	0.13	-19.3073	9.239	0.37484	0.219:0.0:0.781:0.0	.	118	P48745	NOV_HUMAN	H	118	ENSP00000259526:R118H	ENSP00000259526:R118H	R	+	2	0	NOV	120499521	0.974000	0.33945	0.988000	0.46212	0.993000	0.82548	0.960000	0.29253	0.373000	0.24621	0.561000	0.74099	CGC	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381301.1		+	ENST00000259526.3	Missense_Mutation	SNP	8 : 120430340 - 120430340 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	369	37
KRCC1	51315	broad.mit.edu	37	2	88328060	88328060	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88328060T>C	ENST00000347055.3	-	4	416	c.23A>G	c.(22-24)tAt>tGt	p.Y8C		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	8										cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						AAAAGAGTCATATGTCTTCTT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	35	34			NA	NA	2		NA											NA				88328060		2201	4298	6499	SO:0001583	missense			AF208845	CCDS2000.1	2p11.2	2008-02-05			ENSG00000172086	ENSG00000172086	51315	51315			28039	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_016618	XM_005264360	NA	Approved	FLJ22333	uc002sso.1	Q9NPI7	OTTHUMG00000130315	ENST00000347055.3:c.23A>G	2.37:g.88328060T>C	ENSP00000340083:p.Tyr8Cys	NA	Q3B7J7	37	CCDS2000.1	.	.	.	.	.	.	.	.	.	.	.	15.72	2.915994	0.52546	.	.	ENSG00000172086	ENST00000347055	T	0.38560	1.13	5.99	1.73	0.24493	.	0.366091	0.24720	N	0.036157	T	0.57110	0.2031	M	0.75777	2.31	0.44995	D	0.998013	D	0.89917	1.0	D	0.66497	0.944	T	0.57283	-0.7838	10	0.72032	D	0.01	.	8.1035	0.30872	0.1264:0.0:0.2328:0.6408	.	8	Q9NPI7	KRCC1_HUMAN	C	8	ENSP00000340083:Y8C	ENSP00000340083:Y8C	Y	-	2	0	KRCC1	88109175	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.751000	0.38339	0.477000	0.27464	0.533000	0.62120	TAT	KRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252664.1		-	ENST00000347055.3	Missense_Mutation	SNP	2 : 88328060 - 88328060 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	309	68
TUBA3E	112714	broad.mit.edu	37	2	130951729	130951729	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130951729C>T	ENST00000312988.7	-	4	786	c.686G>A	c.(685-687)cGc>cAc	p.R229H		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	229					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					CCCAATCAGGCGATTGAGGTT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	116	132			NA	NA	2		NA											NA				130951729		2203	4298	6501	SO:0001583	missense			BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086	112714	112714		Tubulins	20765	protein-coding gene	gene with protein product					NA		Standard	NM_207312	NM_207312	NA	Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.686G>A	2.37:g.130951729C>T	ENSP00000318197:p.Arg229His	NA		37	CCDS2158.1	.	.	.	.	.	.	.	.	.	.	c	12.15	1.852325	0.32699	.	.	ENSG00000152086	ENST00000312988	T	0.68331	-0.32	2.92	2.92	0.33932	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.48286	U	0.000197	T	0.66684	0.2814	L	0.31664	0.95	0.44668	D	0.997653	D	0.69078	0.997	P	0.59056	0.851	T	0.70846	-0.4761	10	0.87932	D	0	.	11.6717	0.51406	0.0:1.0:0.0:0.0	.	229	Q6PEY2	TBA3E_HUMAN	H	229	ENSP00000318197:R229H	ENSP00000318197:R229H	R	-	2	0	TUBA3E	130668199	0.884000	0.30299	0.597000	0.28824	0.135000	0.20990	3.087000	0.50167	1.664000	0.50801	0.449000	0.29647	CGC	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254519.1		-	ENST00000312988.7	Missense_Mutation	SNP	2 : 130951729 - 130951729 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	741	27
OR5H1	26341	broad.mit.edu	37	3	97851957	97851957	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97851957G>T	ENST00000354565.2	+	1	416	c.416G>T	c.(415-417)gGa>gTa	p.G139V	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						ATGACCAATGGACTGTGCATC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	78	75			NA	NA	3		NA											NA				97851957		2183	4267	6450	SO:0001583	missense			X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192	26341	26341		GPCR / Class A : Olfactory receptors	8346	protein-coding gene	gene with protein product					NA	1370859	Standard	NM_001005338	NM_001005338	NA	Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.416G>T	3.37:g.97851957G>T	ENSP00000346575:p.Gly139Val	NA		37	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	G	0.866	-0.733512	0.03111	.	.	ENSG00000231192	ENST00000354565	T	0.37235	1.21	3.57	1.72	0.24424	GPCR, rhodopsin-like superfamily (1);	0.262517	0.26911	N	0.021867	T	0.24044	0.0582	L	0.33668	1.02	0.09310	N	1	B	0.23806	0.091	B	0.25759	0.063	T	0.17561	-1.0365	10	0.56958	D	0.05	.	5.4464	0.16537	0.3814:0.0:0.6186:0.0	.	139	A6NKK0	OR5H1_HUMAN	V	139	ENSP00000346575:G139V	ENSP00000346575:G139V	G	+	2	0	OR5H1	99334647	0.000000	0.05858	0.022000	0.16811	0.037000	0.13140	-0.955000	0.03869	0.197000	0.20387	0.195000	0.17529	GGA	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359100.2		+	ENST00000354565.2	Missense_Mutation	SNP	3 : 97851957 - 97851957 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	975	134
KCNJ14	3770	broad.mit.edu	37	19	48965137	48965137	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48965137C>T	ENST00000391884.1	+	1	632	c.156C>T	c.(154-156)ttC>ttT	p.F52F	KCNJ14_ENST00000342291.2_Silent_p.F52F			Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	52						voltage-gated potassium channel complex	inward rectifier potassium channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		GCGGTCGCTTCGTCAAGAAAG	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(148;170 3504 35216)							NA				0													33	24	27			NA	NA	19		NA											NA				48965137		2201	4298	6499	SO:0001819	synonymous_variant			BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324	3770	3770		Potassium channels, Voltage-gated ion channels / Potassium channels, Inwardly rectifying	6260	protein-coding gene	gene with protein product		603953			NA	9592090, 10723734, 16382105	Standard	NM_013348	NM_013348	NA	Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.156C>T	19.37:g.48965137C>T		NA		37	CCDS12721.1																																																																																			KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466127.1		+	ENST00000391884.1	Silent	SNP	19 : 48965137 - 48965137 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	84	17
CCT8	10694	broad.mit.edu	37	21	30433572	30433572	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30433572A>G	ENST00000286788.4	-	13	1656		c.e13+1		CCT8_ENST00000542732.1_Splice_Site|CCT8_ENST00000540844.1_Splice_Site|CCT8_ENST00000470450.1_Splice_Site	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	NA					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						TTTTTCAAATACCTCAATATC	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	80	79			NA	NA	21		NA											NA				30433572		2203	4300	6503	SO:0001630	splice_region_variant			Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261	10694	10694		Heat Shock Proteins / Chaperonins	1623	protein-coding gene	gene with protein product			chromosome 21 open reading frame 112	C21orf112	NA	7890169	Standard		NM_006585	NA	Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.1449+1T>C	21.37:g.30433572A>G		NA	A6NN54|Q4VBP8	37	CCDS33528.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.026103	0.75390	.	.	ENSG00000156261	ENST00000432178;ENST00000389159;ENST00000286788;ENST00000542732;ENST00000540844	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5098	0.75772	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCT8	29355443	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.655000	0.91098	2.304000	0.77564	0.528000	0.53228	.	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000171822.1	Intron	-	ENST00000286788.4	Splice_Site	SNP	21 : 30433572 - 30433572 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	30
CLCN2	1181	broad.mit.edu	37	3	184064584	184064584	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184064584C>T	ENST00000434054.2	-	23	2498	c.2375G>A	c.(2374-2376)cGg>cAg	p.R792Q	CLCN2_ENST00000265593.4_Missense_Mutation_p.R836Q|CLCN2_ENST00000457512.1_Missense_Mutation_p.R807Q|CLCN2_ENST00000344937.7_Missense_Mutation_p.R819Q|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000423355.2_3'UTR	NM_001171088.2	NP_001164559.1	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	836	CBS 2.					chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GATGGCCTTCCGGAGCTGGAA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	48	47			NA	NA	3		NA											NA				184064584		2203	4300	6503	SO:0001583	missense			S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859	1181	1181		Ion channels / Chloride channels : Voltage-sensitive	2020	protein-coding gene	gene with protein product		600570	chloride channel 2		NA	7795595	Standard		NM_004366	NA	Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000434054.2:c.2375G>A	3.37:g.184064584C>T	ENSP00000400425:p.Arg792Gln	NA	O14864|Q6IPA9|Q8WU13	37	CCDS54690.1	.	.	.	.	.	.	.	.	.	.	c	22.2	4.259738	0.80246	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.93659	-3.26;-3.26;-3.26;-1.94	5.51	4.64	0.57946	Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.94301	0.8169	L	0.41492	1.28	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.997;0.983;0.999;0.99	D	0.92637	0.6121	10	0.25751	T	0.34	-16.6565	14.3172	0.66460	0.0:0.9285:0.0:0.0715	.	792;807;819;836;792	E9PBD9;E9PCD2;P51788-3;P51788;B4DZ58	.;.;.;CLCN2_HUMAN;.	Q	836;819;792;807	ENSP00000265593:R836Q;ENSP00000345056:R819Q;ENSP00000400425:R792Q;ENSP00000391928:R807Q	ENSP00000265593:R836Q	R	-	2	0	CLCN2	185547278	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.012000	0.57131	1.340000	0.45581	0.655000	0.94253	CGG	CLCN2-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345573.1		-	ENST00000434054.2	Missense_Mutation	SNP	3 : 184064584 - 184064584 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	422	84
KIAA0226	9711	broad.mit.edu	37	3	197431544	197431544	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197431544C>A	ENST00000273582.5	-	4	697	c.152G>T	c.(151-153)aGc>aTc	p.S51I	KIAA0226_ENST00000449205.1_Missense_Mutation_p.S111I|KIAA0226_ENST00000389665.5_Missense_Mutation_p.S111I|KIAA0226_ENST00000467303.1_5'UTR|KIAA0226_ENST00000296343.5_Missense_Mutation_p.S111I	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	111	RUN.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		ATCAGCACTGCTCTGGTCGTT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(3;167 355 3763 15924)							NA				0													54	56	55			NA	NA	3		NA											NA				197431544		2120	4253	6373	SO:0001583	missense			D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016	9711	9711			28991	protein-coding gene	gene with protein product	RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein	613516			NA	9039502, 19270693, 20826435	Standard	XM_032901	XM_005269374	NA	Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000273582.5:c.152G>T	3.37:g.197431544C>A	ENSP00000273582:p.Ser51Ile	NA	Q96CK5	37	CCDS46987.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.17|12.17	1.857056|1.857056	0.32791|0.32791	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000413360|ENST00000273582;ENST00000296343;ENST00000389665;ENST00000449205	.|T;T;T;T	.|0.32988	.|1.43;1.43;1.43;1.43	5.95|5.95	1.15|1.15	0.20763|0.20763	.|RUN (2);	.|0.970843	.|0.08567	.|N	.|0.926613	T|T	0.30541|0.30541	0.0768|0.0768	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|D;P;D	.|0.55800	.|0.973;0.941;0.973	.|P;P;P	.|0.57846	.|0.828;0.735;0.828	T|T	0.28138|0.28138	-1.0053|-1.0053	5|10	.|0.52906	.|T	.|0.07	.|.	7.7581|7.7581	0.28936|0.28936	0.0:0.5565:0.2097:0.2338|0.0:0.5565:0.2097:0.2338	.|.	.|111;51;111	.|E9PEM3;Q92622-2;Q92622	.|.;.;RUBIC_HUMAN	D|I	89|51;111;111;111	.|ENSP00000273582:S51I;ENSP00000296343:S111I;ENSP00000374316:S111I;ENSP00000390962:S111I	.|ENSP00000273582:S51I	E|S	-|-	3|2	2|0	KIAA0226|KIAA0226	198915941|198915941	0.021000|0.021000	0.18746|0.18746	0.375000|0.375000	0.26029|0.26029	0.243000|0.243000	0.25628|0.25628	0.065000|0.065000	0.14466|0.14466	0.276000|0.276000	0.22118|0.22118	-0.189000|-0.189000	0.12847|0.12847	GAG|AGC	KIAA0226-001	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340174.3		-	ENST00000273582.5	Missense_Mutation	SNP	3 : 197431544 - 197431544 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	291	45
NAV2	89797	broad.mit.edu	37	11	19901485	19901485	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:19901485G>T	ENST00000396085.1	+	5	943	c.582G>T	c.(580-582)caG>caT	p.Q194H	NAV2_ENST00000527559.2_Missense_Mutation_p.Q123H|NAV2_ENST00000349880.4_Missense_Mutation_p.Q194H|NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000540292.1_Missense_Mutation_p.Q125H|NAV2_ENST00000396087.3_Missense_Mutation_p.Q194H|NAV2_ENST00000360655.4_Missense_Mutation_p.Q130H	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	194	Gln-rich.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						agcagcagcagcagcagcccc	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	57	55			NA	NA	11		NA											NA				19901485		2198	4293	6491	SO:0001583	missense			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	89797	89797	3.6.1.1		15997	protein-coding gene	gene with protein product	pore membrane and/or filament interacting like protein 2, retinoic acid inducible gene in neuroblastoma 1, helicase, APC down-regulated 1	607026			NA	12079279, 12062803	Standard	NM_145117	NM_145117	NA	Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396085.1:c.582G>T	11.37:g.19901485G>T	ENSP00000379394:p.Gln194His	NA	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	37	CCDS7851.2	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555291	0.86231	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17;0.17	5.93	3.04	0.35103	.	0.000000	0.53938	D	0.000048	T	0.56366	0.1980	N	0.22421	0.69	0.80722	D	1	D;P	0.63046	0.992;0.939	P;P	0.61658	0.892;0.687	T	0.51826	-0.8656	9	.	.	.	.	11.3753	0.49724	0.2009:0.0:0.7991:0.0	.	194;130	Q8IVL1-3;Q8IVL1-4	.;.	H	130;194;194;194;123;125	ENSP00000353871:Q130H;ENSP00000379394:Q194H;ENSP00000309577:Q194H;ENSP00000379396:Q194H;ENSP00000435395:Q123H;ENSP00000443489:Q125H	.	Q	+	3	2	NAV2	19858061	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.306000	0.33505	0.847000	0.35167	0.561000	0.74099	CAG	NAV2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324113.1		+	ENST00000396085.1	Missense_Mutation	SNP	11 : 19901485 - 19901485 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	534	101
TNKS	8658	broad.mit.edu	37	8	9627692	9627692	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:9627692C>T	ENST00000518281.1	+	26	3537	c.3106C>T	c.(3106-3108)Cca>Tca	p.P1036S	TNKS_ENST00000310430.6_Missense_Mutation_p.P1273S			O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1273	SAM.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CCACGCGCCTCCAGGGCACCA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	66	68			NA	NA	8		NA											NA				9627692		2203	4299	6502	SO:0001583	missense			AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273	8658	8658		Poly (ADP-ribose) polymerases, Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	11941	protein-coding gene	gene with protein product		603303			NA	9822378, 10198177	Standard	NM_003747	XM_006716263	NA	Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000518281.1:c.3106C>T	8.37:g.9627692C>T	ENSP00000429890:p.Pro1036Ser	NA	O95272	37		.	.	.	.	.	.	.	.	.	.	C	20.9	4.072626	0.76415	.	.	ENSG00000173273	ENST00000310430;ENST00000518281;ENST00000517770	T;T;T	0.13657	2.57;2.57;2.59	5.18	5.18	0.71444	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.40839	0.1133	M	0.74546	2.27	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.29181	-1.0020	10	0.87932	D	0	.	19.0722	0.93143	0.0:1.0:0.0:0.0	.	1273	O95271	TNKS1_HUMAN	S	1273;1036;18	ENSP00000311579:P1273S;ENSP00000429890:P1036S;ENSP00000428185:P18S	ENSP00000311579:P1273S	P	+	1	0	TNKS	9665102	1.000000	0.71417	0.948000	0.38648	0.326000	0.28443	7.768000	0.85345	2.595000	0.87683	0.655000	0.94253	CCA	TNKS-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000375036.1		+	ENST00000518281.1	Missense_Mutation	SNP	8 : 9627692 - 9627692 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	332	60
CENPF	1063	broad.mit.edu	37	1	214819626	214819626	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214819626G>A	ENST00000366955.3	+	13	6881	c.6713G>A	c.(6712-6714)aGt>aAt	p.S2238N		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2334	2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TCATTTAAAAGTCTGTTAGAA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(80;575 1284 11000 14801 43496)							NA				0													61	69	66			NA	NA	1		NA											NA				214819626		2203	4300	6503	SO:0001583	missense			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724	1063	1063			1857	protein-coding gene	gene with protein product	mitosin	600236	centromere protein F, 350/400kDa (mitosin)		NA	7904902, 7851898	Standard	NM_016343	NM_016343	NA	Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.6713G>A	1.37:g.214819626G>A	ENSP00000355922:p.Ser2238Asn	NA	Q13171|Q13246|Q5VVM7	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	2.636	-0.285247	0.05605	.	.	ENSG00000117724	ENST00000366955	T	0.38240	1.15	4.69	0.0956	0.14486	Centromere protein Cenp-F, leucine-rich repeat-containing domain (1);	0.977676	0.08333	N	0.962002	T	0.11024	0.0269	N	0.01091	-1.02	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.33007	-0.9885	10	0.13108	T	0.6	.	5.9842	0.19423	0.3633:0.1349:0.5019:0.0	.	2334	P49454	CENPF_HUMAN	N	2238	ENSP00000355922:S2238N	ENSP00000355922:S2238N	S	+	2	0	CENPF	212886249	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.053000	0.14184	-0.155000	0.11098	-0.414000	0.06135	AGT	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089749.1		+	ENST00000366955.3	Missense_Mutation	SNP	1 : 214819626 - 214819626 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	471	71
ATP2B2	491	broad.mit.edu	37	3	10401761	10401761	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10401761G>A	ENST00000397077.1	-	12	2146	c.1571C>T	c.(1570-1572)aCg>aTg	p.T524M	ATP2B2_ENST00000343816.4_Missense_Mutation_p.T555M|ATP2B2_ENST00000383800.4_Missense_Mutation_p.T524M|ATP2B2_ENST00000360273.2_Missense_Mutation_p.T569M|ATP2B2_ENST00000352432.4_Missense_Mutation_p.T569M			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	569					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GCCGCACTCCGTCTTGTTGCC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(125;1619 1709 15675 19819 38835)							NA				0													56	50	52			NA	NA	3		NA											NA				10401761		2203	4300	6503	SO:0001583	missense			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	491	491	3.6.3.8	ATPases / P-type	815	protein-coding gene	gene with protein product	plasma membrane Ca2+ pump 2, plasma membrane calcium-transporting ATPase 2	108733			NA	1313367	Standard	NM_001683	NM_001001331	NA	Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000397077.1:c.1571C>T	3.37:g.10401761G>A	ENSP00000380267:p.Thr524Met	NA	O00766|Q12994|Q16818	37	CCDS2601.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897289	0.91962	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	T;T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9;-0.9	4.93	4.93	0.64822	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.88284	0.6395	M	0.86343	2.81	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.90614	0.4554	10	0.87932	D	0	-23.7022	18.1486	0.89667	0.0:0.0:1.0:0.0	.	504;536;569	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	M	569;524;524;569;555;504;425;569	ENSP00000324172:T569M;ENSP00000373311:T524M;ENSP00000380267:T524M;ENSP00000353414:T569M;ENSP00000344677:T555M;ENSP00000414854:T425M	ENSP00000342954:T569M	T	-	2	0	ATP2B2	10376761	1.000000	0.71417	0.955000	0.39395	0.995000	0.86356	9.860000	0.99555	2.272000	0.75746	0.591000	0.81541	ACG	ATP2B2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276089.2		-	ENST00000397077.1	Missense_Mutation	SNP	3 : 10401761 - 10401761 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	496	95
NUMA1	4926	broad.mit.edu	37	11	71735344	71735344	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71735344C>T	ENST00000393695.3	-	5	515	c.184G>A	c.(184-186)Gac>Aac	p.D62N	NUMA1_ENST00000351960.6_Missense_Mutation_p.D62N|NUMA1_ENST00000358965.6_Missense_Mutation_p.D62N	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	62					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CACACAAAGTCCAGTCTCTCT	0.468		NA	T	RARA	APL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0													116	106	109			NA	NA	11		NA											NA				71735344		2200	4293	6493	SO:0001583	missense			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497	NA	4926			8059	protein-coding gene	gene with protein product		164009			NA	8406455	Standard		NM_006185	NA	Approved		uc001orl.1	Q14980		ENST00000393695.3:c.184G>A	11.37:g.71735344C>T	ENSP00000377298:p.Asp62Asn	NA	Q14981	37	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.447454	0.43429	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000542977;ENST00000537217;ENST00000544238;ENST00000543937;ENST00000543009;ENST00000537930;ENST00000544129;ENST00000535947;ENST00000535087;ENST00000368959;ENST00000541719;ENST00000366394;ENST00000541641	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.47528	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.84;0.84;0.84;0.84	5.12	2.04	0.26737	.	0.834455	0.11087	N	0.601215	T	0.19485	0.0468	N	0.02916	-0.46	0.24399	N	0.994715	B;B;B;B;B;B	0.30281	0.013;0.275;0.275;0.0;0.001;0.0	B;B;B;B;B;B	0.27076	0.004;0.076;0.076;0.002;0.003;0.001	T	0.19614	-1.0300	10	0.10902	T	0.67	.	8.1203	0.30967	0.0:0.7078:0.0:0.2922	.	62;62;62;62;62;62	F5H6Y5;F5H4J1;A8K394;Q14980-2;Q14980;Q9BTE9	.;.;.;.;NUMA1_HUMAN;.	N	62	ENSP00000260051:D62N;ENSP00000351851:D62N;ENSP00000377298:D62N;ENSP00000444880:D62N;ENSP00000442936:D62N;ENSP00000442761:D62N;ENSP00000439759:D62N;ENSP00000438821:D62N;ENSP00000438589:D62N;ENSP00000439092:D62N;ENSP00000444175:D62N;ENSP00000439576:D62N;ENSP00000357955:D62N;ENSP00000438331:D62N;ENSP00000438318:D62N;ENSP00000441598:D62N	ENSP00000260051:D62N	D	-	1	0	NUMA1	71412992	0.861000	0.29849	0.986000	0.45419	0.966000	0.64601	0.095000	0.15127	0.733000	0.32492	0.655000	0.94253	GAC	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395769.1		-	ENST00000393695.3	Missense_Mutation	SNP	11 : 71735344 - 71735344 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	471	95
AKAP8L	26993	broad.mit.edu	37	19	15508540	15508540	+	Silent	SNP	C	C	T	rs79796304	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15508540C>T	ENST00000397410.5	-	10	1414	c.1284G>A	c.(1282-1284)acG>acA	p.T428T	AKAP8L_ENST00000595465.2_Silent_p.T367T|AKAP8L_ENST00000595879.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	NA						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						GAAAGTCAGCCGTCTGCTTAG	0.502		NA											C	2	9e-04	0.002	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	9e-04	0.9768	LOWCOV,EXOME	NA	NA	0.001	SNP								NA				0								C		24,3876		0,24,1926	124	123	123		1284	-10.6	0.1	19	dbSNP_132	123	1,8275		0,1,4137	no	coding-synonymous	AKAP8L	NM_014371.2		0,25,6063	TT,TC,CC	NA	0.0121,0.6154,0.2053		428/647	15508540	25,12151	1950	4138	6088	SO:0001819	synonymous_variant			BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243	26993	26993			29857	protein-coding gene	gene with protein product	neighbor of A kinase anchoring protein 95	609475			NA	10748171, 10761695	Standard	NM_014371	XM_005259854	NA	Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.1284G>A	19.37:g.15508540C>T		NA	B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	37	CCDS46005.1																																																																																			AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461301.2		-	ENST00000397410.5	Silent	SNP	19 : 15508540 - 15508540 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	456	34
ZNF440	126070	broad.mit.edu	37	19	11942469	11942469	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11942469A>G	ENST00000304060.5	+	4	642	c.478A>G	c.(478-480)Aga>Gga	p.R160G		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCCCTCCTTTAGAACACAAGA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	124	123			NA	NA	19		NA											NA				11942469		2203	4300	6503	SO:0001583	missense			AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295	126070	126070		Zinc fingers, C2H2-type, -	20874	protein-coding gene	gene with protein product					NA		Standard	NM_152357	NM_152357	NA	Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.478A>G	19.37:g.11942469A>G	ENSP00000305373:p.Arg160Gly	NA	Q8N1R9	37	CCDS42503.1	.	.	.	.	.	.	.	.	.	.	a	7.908	0.735858	0.15574	.	.	ENSG00000171295	ENST00000304060;ENST00000457526;ENST00000427505;ENST00000414255	T;T;T;T	0.29655	1.56;2.37;2.39;5.6	0.724	-1.45	0.08828	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42017	0.1184	M	0.72118	2.19	0.09310	N	1	D	0.60160	0.987	P	0.60173	0.87	T	0.31833	-0.9929	9	0.42905	T	0.14	.	4.0694	0.09876	0.383:0.256:0.361:0.0	.	160	Q8IYI8	ZN440_HUMAN	G	160;38;163;162	ENSP00000305373:R160G;ENSP00000404425:R38G;ENSP00000393489:R163G;ENSP00000411974:R162G	ENSP00000305373:R160G	R	+	1	2	ZNF440	11803469	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.943000	0.03917	-1.616000	0.01572	-1.231000	0.01572	AGA	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344508.1		+	ENST00000304060.5	Missense_Mutation	SNP	19 : 11942469 - 11942469 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	939	171
FEZF2	55079	broad.mit.edu	37	3	62357998	62357998	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:62357998C>T	ENST00000283268.3	-	2	840	c.546G>A	c.(544-546)ccG>ccA	p.P182P	FEZF2_ENST00000475839.1_Silent_p.P182P|FEZF2_ENST00000486811.1_Silent_p.P182P	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	182					transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		GGAGCTCAGACGGCGGGTACG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(170;1772 2053 12525 15604 23984)							NA				0													17	23	21			NA	NA	3		NA											NA				62357998		2200	4292	6492	SO:0001819	synonymous_variant			AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266	55079	55079		Zinc fingers, C2H2-type	13506	protein-coding gene	gene with protein product		607414	zinc finger protein 312	ZNF312	NA		Standard	NM_018008	NM_018008	NA	Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.546G>A	3.37:g.62357998C>T		NA	A8K349|Q9BZ91|Q9NWB9	37	CCDS2897.1																																																																																			FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351813.1		-	ENST00000283268.3	Silent	SNP	3 : 62357998 - 62357998 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	131	25
ZAR1	326340	broad.mit.edu	37	4	48496233	48496233	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48496233G>T	ENST00000327939.4	+	4	1287	c.1247G>T	c.(1246-1248)aGc>aTc	p.S416I		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	416					multicellular organismal development	cytoplasm|membrane	bile acid:sodium symporter activity			endometrium(1)|large_intestine(4)	5						TCCTGTGACAGCACTTTCAGC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	100	100			NA	NA	4		NA											NA				48496233		2203	4300	6503	SO:0001583	missense			AY193890	CCDS3483.1	4p11	2014-02-20			ENSG00000182223	ENSG00000182223	326340	326340			20436	protein-coding gene	gene with protein product	zinc finger, 3CxxC-type 6	607520			NA	12539046	Standard		NM_175619	NA	Approved	Z3CXXC6	uc003gyd.3	Q86SH2	OTTHUMG00000102093	ENST00000327939.4:c.1247G>T	4.37:g.48496233G>T	ENSP00000329803:p.Ser416Ile	NA		37	CCDS3483.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211478	0.58343	.	.	ENSG00000182223	ENST00000327939	.	.	.	5.97	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.67739	0.2925	L	0.36672	1.1	0.58432	D	0.999993	D	0.89917	1.0	D	0.80764	0.994	T	0.71490	-0.4577	9	0.87932	D	0	-28.6385	15.234	0.73413	0.0672:0.0:0.9328:0.0	.	416	Q86SH2	ZAR1_HUMAN	I	416	.	ENSP00000329803:S416I	S	+	2	0	ZAR1	48190990	1.000000	0.71417	0.995000	0.50966	0.014000	0.08584	6.328000	0.72915	1.542000	0.49330	-0.140000	0.14226	AGC	ZAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219927.3		+	ENST00000327939.4	Missense_Mutation	SNP	4 : 48496233 - 48496233 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	441	43
SOCS4	122809	broad.mit.edu	37	14	55511079	55511079	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55511079C>A	ENST00000395472.2	+	2	1652	c.1320C>A	c.(1318-1320)tgC>tgA	p.C440*	SOCS4_ENST00000555846.1_Nonsense_Mutation_p.C440*|SOCS4_ENST00000339298.2_Nonsense_Mutation_p.C440*	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	440					intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						AACAGCAATGCTAGTAACAGG	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	23	23			NA	NA	14		NA											NA				55511079		2174	4284	6458	SO:0001587	stop_gained			AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008	122809	122809		Suppressors of cytokine signaling, SH2 domain containing	19392	protein-coding gene	gene with protein product			suppressor of cytokine signaling 7	SOCS7	NA	12076535, 10500304	Standard		NM_080867	NA	Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.1320C>A	14.37:g.55511079C>A	ENSP00000378855:p.Cys440*	NA		37	CCDS9722.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594096	0.66219	.	.	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	.	.	.	4.96	0.996	0.19844	.	0.537537	0.16649	N	0.205289	.	.	.	.	.	.	0.18873	N	0.999986	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.5584	0.22474	0.1332:0.6474:0.0:0.2194	.	.	.	.	X	440	.	ENSP00000341327:C440X	C	+	3	2	SOCS4	54580832	0.786000	0.28738	0.653000	0.29593	0.553000	0.35397	0.658000	0.24979	0.326000	0.23384	0.655000	0.94253	TGC	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276910.1		+	ENST00000395472.2	Nonsense_Mutation	SNP	14 : 55511079 - 55511079 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	166	38
USP32	84669	broad.mit.edu	37	17	58262867	58262867	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58262867C>T	ENST00000300896.4	-	30	3982	c.3788G>A	c.(3787-3789)tGc>tAc	p.C1263Y	USP32_ENST00000592339.1_Missense_Mutation_p.C933Y	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1263					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TGTTGCTAAGCAGTGGGTCTT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	105	107			NA	NA	17		NA											NA				58262867		2203	4297	6500	SO:0001583	missense			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832	84669	84669		Ubiquitin-specific peptidases, EF-hand domain containing	19143	protein-coding gene	gene with protein product		607740	ubiquitin specific protease 32		NA	12838346	Standard	NM_032582	NM_032582	NA	Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.3788G>A	17.37:g.58262867C>T	ENSP00000300896:p.Cys1263Tyr	NA	Q9BX85|Q9Y591	37	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770304	0.90108	.	.	ENSG00000170832	ENST00000300896	T	0.28666	1.6	5.6	5.6	0.85130	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.043342	0.85682	D	0.000000	T	0.38268	0.1034	L	0.43152	1.355	0.80722	D	1	D	0.56287	0.975	P	0.48334	0.574	T	0.12941	-1.0528	10	0.59425	D	0.04	.	19.6082	0.95588	0.0:1.0:0.0:0.0	.	1263	Q8NFA0	UBP32_HUMAN	Y	1263	ENSP00000300896:C1263Y	ENSP00000300896:C1263Y	C	-	2	0	USP32	55617649	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.786000	0.85741	2.637000	0.89404	0.650000	0.86243	TGC	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449235.2		-	ENST00000300896.4	Missense_Mutation	SNP	17 : 58262867 - 58262867 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	505	97
SMARCC1	6599	broad.mit.edu	37	3	47651741	47651741	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47651741C>T	ENST00000254480.5	-	26	2977	c.2858G>A	c.(2857-2859)cGa>cAa	p.R953Q	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	953					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CTGTCGTGCTCGTAATTCAGC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													300	265	276			NA	NA	3		NA											NA				47651741		2203	4300	6503	SO:0001583	missense			U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473	6599	6599			11104	protein-coding gene	gene with protein product		601732			NA	8804307	Standard		NM_003074	NA	Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.2858G>A	3.37:g.47651741C>T	ENSP00000254480:p.Arg953Gln	NA	Q17RS0|Q6P172|Q8IWH2	37	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.934430	0.52866	.	.	ENSG00000173473	ENST00000254480	T	0.16597	2.33	6.06	5.19	0.71726	.	0.062950	0.64402	D	0.000016	T	0.32882	0.0844	M	0.75447	2.3	0.46078	D	0.99885	D	0.58268	0.982	P	0.51415	0.669	T	0.17992	-1.0351	10	0.87932	D	0	-11.0315	14.4989	0.67707	0.0:0.9302:0.0:0.0698	.	953	Q92922	SMRC1_HUMAN	Q	953	ENSP00000254480:R953Q	ENSP00000254480:R953Q	R	-	2	0	SMARCC1	47626745	1.000000	0.71417	0.868000	0.34077	0.009000	0.06853	4.547000	0.60712	1.571000	0.49722	-0.140000	0.14226	CGA	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257491.1		-	ENST00000254480.5	Missense_Mutation	SNP	3 : 47651741 - 47651741 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1101	47
ABCC5	10057	broad.mit.edu	37	3	183689433	183689433	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183689433T>A	ENST00000334444.6	-	11	1919	c.1679A>T	c.(1678-1680)gAa>gTa	p.E560V	ABCC5_ENST00000265586.6_Missense_Mutation_p.E560V	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	560						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTCTTCCTCTTCGGGACTGGG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	107	104			NA	NA	3		NA											NA				183689433		2137	4244	6381	SO:0001583	missense			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770	10057	10057		ATP binding cassette transporters / subfamily C	56	protein-coding gene	gene with protein product		605251			NA	8894702, 9827529	Standard	NM_005688	XM_005247058	NA	Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.1679A>T	3.37:g.183689433T>A	ENSP00000333926:p.Glu560Val	NA	B9EIQ2|O14517|Q9UN85|Q9UNP5|Q9UQC3	37	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	T	13.25	2.179968	0.38511	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	D;D	0.92048	-2.74;-2.96	4.94	4.94	0.65067	ABC transporter, transmembrane domain, type 1 (1);	0.150530	0.44688	D	0.000437	D	0.90099	0.6907	L	0.61036	1.89	0.41621	D	0.988962	B;B	0.18461	0.001;0.028	B;B	0.13407	0.003;0.009	D	0.87123	0.2192	10	0.30078	T	0.28	-10.1008	15.2971	0.73916	0.0:0.0:0.0:1.0	.	560;560	Q86UX3;O15440	.;MRP5_HUMAN	V	560;496;560	ENSP00000333926:E560V;ENSP00000265586:E560V	ENSP00000265586:E560V	E	-	2	0	ABCC5	185172127	0.999000	0.42202	0.805000	0.32314	0.416000	0.31233	3.744000	0.55112	2.155000	0.67459	0.533000	0.62120	GAA	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346350.1		-	ENST00000334444.6	Missense_Mutation	SNP	3 : 183689433 - 183689433 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	520	95
AHNAK	79026	broad.mit.edu	37	11	62286943	62286943	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62286943A>G	ENST00000378024.4	-	5	15220	c.14946T>C	c.(14944-14946)ttT>ttC	p.F4982F	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4982					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTTTGCCCCAAATCCAAACT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	85	83			NA	NA	11		NA											NA				62286943		2202	4299	6501	SO:0001819	synonymous_variant			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942	79026	79026			347	protein-coding gene	gene with protein product	desmoyokin	103390	AHNAK nucleoprotein (desmoyokin)		NA	7987395, 12153988	Standard	NM_024060	NM_024060	NA	Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.14946T>C	11.37:g.62286943A>G		NA		37	CCDS31584.1																																																																																			AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395572.1		-	ENST00000378024.4	Silent	SNP	11 : 62286943 - 62286943 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	633	112
CLIP1	6249	broad.mit.edu	37	12	122826040	122826040	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122826040T>G	ENST00000302528.7	-	9	1785	c.1678A>C	c.(1678-1680)Act>Cct	p.T560P	CLIP1_ENST00000537178.1_Missense_Mutation_p.T525P|CLIP1_ENST00000361654.4_Missense_Mutation_p.T525P|CLIP1_ENST00000358808.2_Missense_Mutation_p.T560P|CLIP1_ENST00000545889.1_Missense_Mutation_p.T261P|CLIP1_ENST00000540338.1_Missense_Mutation_p.T571P			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	571					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTCAGAGAAGTTATTTCTCTC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													177	193	188			NA	NA	12		NA											NA				122826040		2203	4300	6503	SO:0001583	missense				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779	6249	6249			10461	protein-coding gene	gene with protein product	restin	179838	restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)	RSN	NA	8222754	Standard	NM_002956	NM_001247997	NA	Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000302528.7:c.1678A>C	12.37:g.122826040T>G	ENSP00000303585:p.Thr560Pro	NA	A0AVD3|Q17RS4|Q29RG0	37	CCDS9232.1	.	.	.	.	.	.	.	.	.	.	T	10.12	1.263802	0.23136	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304	T;T;T;T;T;T	0.61859	2.7;0.66;0.66;0.68;0.68;0.07	5.25	-1.35	0.09114	.	0.997403	0.08131	N	0.993246	T	0.47563	0.1452	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.21905	0.062;0.039;0.039;0.023	B;B;B;B	0.29598	0.059;0.104;0.104;0.048	T	0.42982	-0.9419	10	0.31617	T	0.26	0.3462	10.5726	0.45209	0.0:0.4574:0.0:0.5426	.	261;525;560;571	F5H0N7;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	P	261;560;560;405;525;571;494	ENSP00000438743:T261P;ENSP00000303585:T560P;ENSP00000351665:T560P;ENSP00000445531:T525P;ENSP00000439093:T571P;ENSP00000437786:T494P	ENSP00000303585:T560P	T	-	1	0	CLIP1	121391993	0.000000	0.05858	0.118000	0.21660	0.909000	0.53808	-0.323000	0.07997	-0.413000	0.07507	-0.379000	0.06801	ACT	CLIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401619.1		-	ENST00000302528.7	Missense_Mutation	SNP	12 : 122826040 - 122826040 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1487	364
PCDH15	65217	broad.mit.edu	37	10	55600233	55600233	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55600233T>G	ENST00000373965.2	-	30	4245	c.3851A>C	c.(3850-3852)gAa>gCa	p.E1284A	PCDH15_ENST00000409834.1_Missense_Mutation_p.E888A|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000361849.3_Missense_Mutation_p.E1277A|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.E1277A|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1277A|PCDH15_ENST00000395445.1_Missense_Mutation_p.E1284A|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1255A|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1240A|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1206A|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.E1277A|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1282A	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1277					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGGAATTTGTTCCTGAACATA	0.428		NA								HNSCC(58;0.16)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	74	76			NA	NA	10		NA											NA				55600233		2203	4300	6503	SO:0001583	missense			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275	65217	65217		Cadherins / Cadherin-related	14674	protein-coding gene	gene with protein product	cadherin-related family member 15	605514	deafness, autosomal recessive 23, protocadherin 15	USH1F, DFNB23	NA	11398101, 14570705	Standard	NM_033056	NM_033056	NA	Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.3851A>C	10.37:g.55600233T>G	ENSP00000363076:p.Glu1284Ala	NA	A6NL19|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	37		.	.	.	.	.	.	.	.	.	.	T	23.4	4.414872	0.83449	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.58358	0.41;0.46;0.4;0.4;0.36;0.37;0.34;0.4;0.35;0.35;0.35	5.43	5.43	0.79202	.	.	.	.	.	T	0.45895	0.1365	N	0.19112	0.55	0.43399	D	0.995528	P;P;P;P;P;P;P;B;P;P;P;P;P	0.49090	0.773;0.864;0.864;0.864;0.753;0.864;0.773;0.288;0.773;0.773;0.647;0.774;0.919	B;B;B;B;B;B;B;B;P;P;B;B;P	0.46389	0.257;0.345;0.345;0.345;0.345;0.345;0.257;0.242;0.515;0.515;0.345;0.345;0.496	T	0.51919	-0.8644	9	0.66056	D	0.02	.	15.4284	0.75072	0.0:0.0:0.0:1.0	.	1255;1277;1277;1282;1206;1240;1277;1277;1284;1284;1277;1282;1277	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	A	1284;1282;1277;1277;888;1284;1240;1277;1255;1277;1277;1282;1206	ENSP00000363076:E1284A;ENSP00000410304:E1282A;ENSP00000378826:E1277A;ENSP00000386693:E888A;ENSP00000378832:E1284A;ENSP00000378820:E1240A;ENSP00000354950:E1277A;ENSP00000378821:E1255A;ENSP00000322604:E1277A;ENSP00000378818:E1277A;ENSP00000412628:E1206A	ENSP00000322604:E1277A	E	-	2	0	PCDH15	55270239	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.986000	0.88173	2.182000	0.69389	0.472000	0.43445	GAA	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000291336.1		-	ENST00000373965.2	Missense_Mutation	SNP	10 : 55600233 - 55600233 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	64
RASEF	158158	broad.mit.edu	37	9	85637250	85637250	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:85637250C>T	ENST00000376447.3	-	3	930		c.e3+1			NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	NA					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CAGAAACTCACGTCTTTCCGT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													246	209	221			NA	NA	9		NA											NA				85637250		2203	4300	6503	SO:0001630	splice_region_variant			AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105	158158	158158		EF-hand domain containing, RAB, member RAS oncogene	26464	protein-coding gene	gene with protein product		611344	RAB45, member RAS oncogene family	RAB45	NA	17448446	Standard	NM_152573	NM_152573	NA	Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.669+1G>A	9.37:g.85637250C>T		NA	A6NC29|Q96N04	37	CCDS6662.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246870	0.80024	.	.	ENSG00000165105	ENST00000376447	.	.	.	5.88	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0808	0.72113	0.0:0.9322:0.0:0.0678	.	.	.	.	.	-1	.	.	.	-	.	.	RASEF	84827070	1.000000	0.71417	0.886000	0.34754	0.932000	0.56968	5.111000	0.64628	1.497000	0.48584	0.655000	0.94253	.	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052825.1	Intron	-	ENST00000376447.3	Splice_Site	SNP	9 : 85637250 - 85637250 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	590	100
USP30	84749	broad.mit.edu	37	12	109523652	109523652	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109523652G>A	ENST00000392784.2	+	16	1953	c.1377G>A	c.(1375-1377)ctG>ctA	p.L459L	USP30_ENST00000257548.5_Silent_p.L490L			Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	490					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						AGGAGGTCCTGTCCTCCAGCG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	74	80			NA	NA	12		NA											NA				109523652		2203	4300	6503	SO:0001819	synonymous_variant			BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093	84749	84749		Ubiquitin-specific peptidases	20065	protein-coding gene	gene with protein product		612492	ubiquitin specific protease 30		NA	12838346	Standard	NM_032663	XM_005253962	NA	Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000392784.2:c.1377G>A	12.37:g.109523652G>A		NA	Q8WTU7|Q96JX4|Q9BSS3	37																																																																																				USP30-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000257734.2		+	ENST00000392784.2	Silent	SNP	12 : 109523652 - 109523652 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	344	28
SUGP1	57794	broad.mit.edu	37	19	19389537	19389537	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19389537C>T	ENST00000247001.5	-	11	1944	c.1597G>A	c.(1597-1599)Gag>Aag	p.E533K		NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	533					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						TTTTCCAGCTCGTCTGGAGGC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	37	39			NA	NA	19		NA											NA				19389537		2203	4300	6503	SO:0001583	missense			AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705	57794	57794		G patch domain containing	18643	protein-coding gene	gene with protein product		607992	splicing factor 4	SF4	NA	12594045	Standard	NM_021164	NM_172231	NA	Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.1597G>A	19.37:g.19389537C>T	ENSP00000247001:p.Glu533Lys	NA	O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	37	CCDS12399.1	.	.	.	.	.	.	.	.	.	.	C	35	5.525998	0.96431	.	.	ENSG00000105705	ENST00000247001	T	0.32515	1.45	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.55321	0.1913	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	T	0.56643	-0.7945	10	0.49607	T	0.09	.	17.4482	0.87584	0.0:1.0:0.0:0.0	.	533	Q8IWZ8	SUGP1_HUMAN	K	533	ENSP00000247001:E533K	ENSP00000247001:E533K	E	-	1	0	SUGP1	19250537	1.000000	0.71417	0.948000	0.38648	0.967000	0.64934	7.657000	0.83745	2.458000	0.83093	0.561000	0.74099	GAG	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460128.4		-	ENST00000247001.5	Missense_Mutation	SNP	19 : 19389537 - 19389537 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	193	35
SP1	6667	broad.mit.edu	37	12	53776411	53776411	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53776411C>A	ENST00000426431.2	+	3	719	c.659C>A	c.(658-660)gCt>gAt	p.A220D	SP1_ENST00000327443.4_Missense_Mutation_p.A227D	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	227	Transactivation domain A (Gln-rich).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		ATCATTGCTGCTATGCCAAAC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	104	109			NA	NA	12		NA											NA				53776411		2203	4300	6503	SO:0001583	missense			J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08					NA	6667		Specificity protein transcription factors, Zinc fingers, C2H2-type	11205	protein-coding gene	gene with protein product	specificity protein 1	189906			NA	1662663	Standard		NM_003109	NA	Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000426431.2:c.659C>A	12.37:g.53776411C>A	ENSP00000404263:p.Ala220Asp	NA	Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	37	CCDS44898.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313154	0.60414	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	T;T	0.08193	3.15;3.12	4.39	4.39	0.52855	.	0.000000	0.56097	D	0.000027	T	0.11452	0.0279	L	0.29908	0.895	0.58432	D	0.999999	P	0.52842	0.956	P	0.50270	0.636	T	0.18335	-1.0340	10	0.29301	T	0.29	.	16.2766	0.82646	0.0:1.0:0.0:0.0	.	227	P08047	SP1_HUMAN	D	227;220	ENSP00000329357:A227D;ENSP00000404263:A220D	ENSP00000329357:A227D	A	+	2	0	SP1	52062678	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.211000	0.42825	2.456000	0.83038	0.467000	0.42956	GCT	SP1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407045.2		+	ENST00000426431.2	Missense_Mutation	SNP	12 : 53776411 - 53776411 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	473	72
C9orf50	375759	broad.mit.edu	37	9	132375512	132375512	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132375512C>A	ENST00000372478.4	-	6	1263	c.1062G>T	c.(1060-1062)caG>caT	p.Q354H	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	354										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				AAAGGTAGCCCTGTGTCTTCT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	42	43			NA	NA	9		NA											NA				132375512		2202	4297	6499	SO:0001583	missense			AK093122	CCDS35159.1	9q34.2	2012-03-15			ENSG00000179058	ENSG00000179058	375759	375759			23677	protein-coding gene	gene with protein product					NA		Standard	NM_199350	NM_199350	NA	Approved	FLJ35803	uc004byc.4	Q5SZB4	OTTHUMG00000020786	ENST00000372478.4:c.1062G>T	9.37:g.132375512C>A	ENSP00000361556:p.Gln354His	NA	Q2M1I2|Q8NA65	37	CCDS35159.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751328	0.31046	.	.	ENSG00000179058	ENST00000372478	T	0.28454	1.61	3.3	0.289	0.15723	.	0.541517	0.13928	N	0.353066	T	0.31136	0.0787	L	0.27053	0.805	0.09310	N	1	D	0.62365	0.991	P	0.61533	0.89	T	0.10683	-1.0619	10	0.59425	D	0.04	-6.1819	3.8989	0.09152	0.4242:0.4545:0.0:0.1213	.	354	Q5SZB4	CI050_HUMAN	H	354	ENSP00000361556:Q354H	ENSP00000361556:Q354H	Q	-	3	2	C9orf50	131415333	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	0.028000	0.13644	0.065000	0.16485	0.442000	0.29010	CAG	C9orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054593.1		-	ENST00000372478.4	Missense_Mutation	SNP	9 : 132375512 - 132375512 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	367	61
EYA2	2139	broad.mit.edu	37	20	45633697	45633697	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45633697C>T	ENST00000327619.5	+	4	646	c.272C>T	c.(271-273)gCa>gTa	p.A91V	EYA2_ENST00000357410.3_Missense_Mutation_p.A91V|EYA2_ENST00000317304.6_Missense_Mutation_p.A91V	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	91					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CCACCTCCAGCACAAGCCTAT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(120;56 1725 18501 25218 43520)							NA				0													81	73	76			NA	NA	20		NA											NA				45633697		2203	4300	6503	SO:0001583	missense				CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655	2139	2139		Protein tyrosine phosphatases / Asp-based PTPs	3520	protein-coding gene	gene with protein product		601654	eyes absent (Drosophila) homolog 2, eyes absent homolog 2 (Drosophila)		NA	9020840	Standard	NM_005244	NM_005244	NA	Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.272C>T	20.37:g.45633697C>T	ENSP00000333640:p.Ala91Val	NA	Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	37	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317035	0.81469	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304;ENST00000458636	D;D;D;T	0.91894	-2.93;-2.53;-2.85;-0.74	5.53	4.59	0.56863	.	0.130472	0.56097	D	0.000026	D	0.92234	0.7537	L	0.56769	1.78	0.46298	D	0.998979	D;P;P;P	0.54964	0.969;0.787;0.825;0.825	P;B;B;B	0.54210	0.745;0.23;0.313;0.294	D	0.91621	0.5311	10	0.62326	D	0.03	-18.7495	8.2618	0.31790	0.0:0.6532:0.2645:0.0823	.	91;91;91;91	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	V	91;91;91;91;44	ENSP00000333640:A91V;ENSP00000349986:A91V;ENSP00000321590:A91V;ENSP00000395427:A44V	ENSP00000321590:A91V	A	+	2	0	EYA2	45067104	1.000000	0.71417	0.924000	0.36721	0.960000	0.62799	3.109000	0.50345	1.344000	0.45657	0.561000	0.74099	GCA	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080326.2		+	ENST00000327619.5	Missense_Mutation	SNP	20 : 45633697 - 45633697 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	351	48
NCAPD3	23310	broad.mit.edu	37	11	134073691	134073691	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134073691C>T	ENST00000534548.2	-	11	1390	c.1326G>A	c.(1324-1326)aaG>aaA	p.K442K		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	442					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GCACCAGGAACTTATGCTTTA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	87	87			NA	NA	11		NA											NA				134073691		2201	4297	6498	SO:0001819	synonymous_variant			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503	23310	23310			28952	protein-coding gene	gene with protein product		609276			NA	7584044, 8619474, 14532007	Standard	NM_015261	NM_015261	NA	Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.1326G>A	11.37:g.134073691C>T		NA	A6NFS2|Q4KMQ9	37	CCDS31723.1																																																																																			NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393575.2		-	ENST00000534548.2	Silent	SNP	11 : 134073691 - 134073691 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	486	96
PARD3B	117583	broad.mit.edu	37	2	206165326	206165326	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206165326C>T	ENST00000406610.2	+	17	2465	c.2258C>T	c.(2257-2259)gCa>gTa	p.A753V	PARD3B_ENST00000351153.1_Intron|PARD3B_ENST00000358768.2_Missense_Mutation_p.A691V|PARD3B_ENST00000462231.1_Missense_Mutation_p.A753V|PARD3B_ENST00000349953.3_Missense_Mutation_p.A753V	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	753					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CTGCAGACTGCAGTGGCCGAG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	98	98			NA	NA	2		NA											NA				206165326		1904	4134	6038	SO:0001583	missense			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117	117583	117583			14446	protein-coding gene	gene with protein product			amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19, par-3 partitioning defective 3 homolog B (C. elegans)	ALS2CR19	NA	11586298, 12459187	Standard	NM_057177	NM_057177	NA	Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2258C>T	2.37:g.206165326C>T	ENSP00000385848:p.Ala753Val	NA	Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	37		.	.	.	.	.	.	.	.	.	.	C	26.1	4.704456	0.88924	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000349953	T;T;T	0.34472	1.36;1.36;1.36	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000001	T	0.62233	0.2411	M	0.73217	2.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	T	0.59643	-0.7416	10	0.46703	T	0.11	.	19.9376	0.97146	0.0:1.0:0.0:0.0	.	753;691;753	Q8TEW8;Q8TEW8-2;Q8TEW8-5	PAR3L_HUMAN;.;.	V	753;691;753	ENSP00000385848:A753V;ENSP00000351618:A691V;ENSP00000340280:A753V	ENSP00000340280:A753V	A	+	2	0	PARD3B	205873571	1.000000	0.71417	0.182000	0.23118	0.772000	0.43724	7.818000	0.86416	2.711000	0.92665	0.655000	0.94253	GCA	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000335992.1		+	ENST00000406610.2	Missense_Mutation	SNP	2 : 206165326 - 206165326 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	801	130
IL17RC	84818	broad.mit.edu	37	3	9970068	9970068	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9970068G>A	ENST00000295981.3	+	11	1388	c.1170G>A	c.(1168-1170)ccG>ccA	p.P390P	IL17RC_ENST00000413608.1_Silent_p.P319P|IL17RC_ENST00000403601.3_Silent_p.P319P|IL17RC_ENST00000416074.2_Silent_p.P175P|IL17RC_ENST00000383812.4_Silent_p.P304P|IL17RC_ENST00000455057.1_Silent_p.P304P|IL17RC_ENST00000498214.1_3'UTR	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	390						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TGGACGCACCGTGCTCGCTGC	0.682		NA											G	2	9e-04	0.0041	NA	2184	NA	0.9992	,	,	NA	3e-04	NA	NA	NA	7e-04	0.5946	EXOME	NA	NA	0.0095	SNP								NA				0								G	,,,,,	1,4405		0,1,2202	29	36	34		957,957,912,912,957,1170	-9.7	0	3		34	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	IL17RC	NM_001203263.1,NM_001203264.1,NM_001203265.1,NM_032732.5,NM_153460.3,NM_153461.3	,,,,,	0,1,6501	AA,AG,GG	NA	0.0,0.0227,0.0077	,,,,,	319/708,319/691,304/689,304/706,319/721,390/792	9970068	1,13003	2203	4299	6502	SO:0001819	synonymous_variant			BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702	84818	84818		Interleukins and interleukin receptors	18358	protein-coding gene	gene with protein product		610925			NA	11706037	Standard	NM_032732	NM_153460	NA	Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.1170G>A	3.37:g.9970068G>A		NA	Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	37	CCDS2590.1																																																																																			IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250526.2		+	ENST00000295981.3	Silent	SNP	3 : 9970068 - 9970068 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	567	114
JMJD1C	221037	broad.mit.edu	37	10	65225411	65225411	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:65225411C>T	ENST00000399262.2	-	1	230	c.12G>A	c.(10-12)gaG>gaA	p.E4E	JMJD1C-AS1_ENST00000609436.1_RNA|JMJD1C_ENST00000399251.1_5'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	4					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CTGCCCGCGTCTCTACCGCCA	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	27	24			NA	NA	10		NA											NA				65225411		2170	4264	6434	SO:0001819	synonymous_variant			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988	221037	221037			12313	protein-coding gene	gene with protein product		604503	thyroid hormone receptor interactor 8	TRIP8	NA	7776974	Standard	NM_004241	XM_005269624	NA	Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.12G>A	10.37:g.65225411C>T		NA	Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	37	CCDS41532.1																																																																																			JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048249.2		-	ENST00000399262.2	Silent	SNP	10 : 65225411 - 65225411 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	230	30
ARHGEF17	9828	broad.mit.edu	37	11	73074371	73074371	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73074371G>A	ENST00000263674.3	+	15	5467	c.5117G>A	c.(5116-5118)aGc>aAc	p.S1706N		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1706					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGCGGCACCAGCCCAATGGAT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	24	24			NA	NA	11		NA											NA				73074371		2199	4293	6492	SO:0001583	missense			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237	9828	9828		Rho guanine nucleotide exchange factors	21726	protein-coding gene	gene with protein product	Rho-specific guanine-nucleotide exchange factor 164 kDa, tumor endothelial marker 4				NA	11559528, 12071859	Standard	NM_014786	NM_014786	NA	Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.5117G>A	11.37:g.73074371G>A	ENSP00000263674:p.Ser1706Asn	NA	B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	37	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763094	0.69763	.	.	ENSG00000110237	ENST00000263674	T	0.60424	0.19	5.24	5.24	0.73138	.	0.046414	0.85682	D	0.000000	T	0.46889	0.1416	L	0.27053	0.805	0.52099	D	0.99994	P	0.36599	0.56	B	0.33121	0.158	T	0.52624	-0.8551	10	0.59425	D	0.04	-21.2442	18.2437	0.89977	0.0:0.0:1.0:0.0	.	1706	Q96PE2	ARHGH_HUMAN	N	1706	ENSP00000263674:S1706N	ENSP00000263674:S1706N	S	+	2	0	ARHGEF17	72752019	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.895000	0.87343	2.626000	0.88956	0.650000	0.86243	AGC	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397365.1		+	ENST00000263674.3	Missense_Mutation	SNP	11 : 73074371 - 73074371 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	186	36
FAM129C	199786	broad.mit.edu	37	19	17648286	17648286	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17648286G>T	ENST00000335393.4	+	6	760	c.622G>T	c.(622-624)Gcc>Tcc	p.A208S	FAM129C_ENST00000595684.1_Missense_Mutation_p.A208S|FAM129C_ENST00000332386.5_Missense_Mutation_p.A208S|FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000599164.1_Missense_Mutation_p.A177S|FAM129C_ENST00000601861.1_Missense_Mutation_p.A177S|FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000599124.1_Missense_Mutation_p.A177S|FAM129C_ENST00000300971.2_Missense_Mutation_p.A208S|FAM129C_ENST00000352727.3_Missense_Mutation_p.A208S|FAM129C_ENST00000600871.1_Missense_Mutation_p.A154S	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	208										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						CTTCTCTGCAGCCACCAGGGA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	62	62			NA	NA	19		NA											NA				17648286		2203	4300	6503	SO:0001583	missense			AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483	199786	199786			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967			NA	12886250	Standard	NM_173544	NM_173544	NA	Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.622G>T	19.37:g.17648286G>T	ENSP00000335040:p.Ala208Ser	NA	Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	37	CCDS12362.1	.	.	.	.	.	.	.	.	.	.	g	10.32	1.318922	0.23994	.	.	ENSG00000167483	ENST00000335393;ENST00000332386;ENST00000352727;ENST00000300971;ENST00000435646	T;T;T;T	0.16073	2.37;2.37;2.37;2.37	4.42	-2.15	0.07102	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.776011	0.11182	N	0.590881	T	0.12774	0.0310	M	0.65975	2.015	0.09310	N	0.999998	P;B	0.48294	0.908;0.4	B;B	0.39660	0.306;0.121	T	0.30001	-0.9993	10	0.10902	T	0.67	-2.8879	4.3847	0.11311	0.2913:0.3137:0.3951:0.0	.	208;208	Q86XR2;Q86XR2-3	NIBL2_HUMAN;.	S	208;208;208;208;154	ENSP00000335040:A208S;ENSP00000333447:A208S;ENSP00000341067:A208S;ENSP00000300971:A208S	ENSP00000300971:A208S	A	+	1	0	FAM129C	17509286	0.000000	0.05858	0.000000	0.03702	0.789000	0.44602	-0.304000	0.08199	-0.599000	0.05798	-0.359000	0.07587	GCC	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464206.1		+	ENST00000335393.4	Missense_Mutation	SNP	19 : 17648286 - 17648286 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	544	110
KRBA2	124751	broad.mit.edu	37	17	8272507	8272507	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8272507G>A	ENST00000396267.1	-	2	2009	c.1178C>T	c.(1177-1179)cCt>cTt	p.P393L	RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR|KRBA2_ENST00000331336.2_Missense_Mutation_p.P475L|RP11-849F2.5_ENST00000580537.1_RNA			Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	475	Integrase catalytic.				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						TGAAGCTTCAGGAGTGGGATC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	123	128			NA	NA	17		NA											NA				8272507		2203	4300	6503	SO:0001583	missense			BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619	124751	124751		-	26989	protein-coding gene	gene with protein product			KRAB A domain containing 2		NA	12477932	Standard	NM_213597	NM_213597	NA	Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000396267.1:c.1178C>T	17.37:g.8272507G>A	ENSP00000379565:p.Pro393Leu	NA	Q8IYY0	37		.	.	.	.	.	.	.	.	.	.	g	9.358	1.067243	0.20067	.	.	ENSG00000184619	ENST00000396267;ENST00000331336	T;T	0.25749	1.87;1.78	2.56	1.59	0.23543	.	.	.	.	.	T	0.23210	0.0561	L	0.57536	1.79	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.27673	-1.0067	9	0.87932	D	0	.	5.3549	0.16055	0.1587:0.0:0.8413:0.0	.	475	Q6ZNG9	KRBA2_HUMAN	L	393;475	ENSP00000379565:P393L;ENSP00000328017:P475L	ENSP00000328017:P475L	P	-	2	0	KRBA2	8213232	0.485000	0.25972	0.002000	0.10522	0.042000	0.13812	0.667000	0.25112	0.662000	0.31006	0.650000	0.86243	CCT	KRBA2-002	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000256339.1		-	ENST00000396267.1	Missense_Mutation	SNP	17 : 8272507 - 8272507 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	518	91
CETN1	1068	broad.mit.edu	37	18	580753	580753	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:580753C>T	ENST00000327228.3	+	1	387	c.345C>T	c.(343-345)gaC>gaT	p.D115D		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	115	EF-hand 3.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						TCTTTGATGACGATGAGACCG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	84	82			NA	NA	18		NA											NA				580753		2203	4300	6503	SO:0001819	synonymous_variant			U03270	CCDS11820.1	18p11.32	2013-01-10			ENSG00000177143	ENSG00000177143	1068	1068		EF-hand domain containing	1866	protein-coding gene	gene with protein product		603187		CETN	NA	8175926	Standard	NM_004066	NM_004066	NA	Approved	CEN1	uc002kko.1	Q12798	OTTHUMG00000131471	ENST00000327228.3:c.345C>T	18.37:g.580753C>T		NA	B2R536	37	CCDS11820.1																																																																																			CETN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254314.2		+	ENST00000327228.3	Silent	SNP	18 : 580753 - 580753 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	463	67
UBXN6	80700	broad.mit.edu	37	19	4457633	4457633	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4457633T>C	ENST00000301281.6	-	1	186	c.62A>G	c.(61-63)cAg>cGg	p.Q21R		NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	21						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						TTTGAGCTTCTGACCGGGTCC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	31	33			NA	NA	19		NA											NA				4457633		2201	4297	6498	SO:0001583	missense			AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671	80700	80700		UBX domain containing	14928	protein-coding gene	gene with protein product		611946	UBX domain-containing 1, UBX domain containing 1	UBXD1	NA	11342112	Standard	NM_025241	NM_025241	NA	Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.62A>G	19.37:g.4457633T>C	ENSP00000301281:p.Gln21Arg	NA	D6W626|Q96AH1|Q96IK9|Q9BZV0	37	CCDS12129.1	.	.	.	.	.	.	.	.	.	.	T	8.264	0.811888	0.16537	.	.	ENSG00000167671	ENST00000301281	T	0.42900	0.96	4.03	4.03	0.46877	.	0.410430	0.26612	U	0.023407	T	0.26159	0.0638	L	0.33137	0.985	0.80722	D	1	B	0.24823	0.112	B	0.25140	0.058	T	0.04333	-1.0959	10	0.07482	T	0.82	-14.4097	7.6137	0.28145	0.1898:0.0:0.0:0.8102	.	21	Q9BZV1	UBXN6_HUMAN	R	21	ENSP00000301281:Q21R	ENSP00000301281:Q21R	Q	-	2	0	UBXN6	4408633	1.000000	0.71417	0.991000	0.47740	0.880000	0.50808	5.039000	0.64185	1.448000	0.47680	0.477000	0.44152	CAG	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458447.3		-	ENST00000301281.6	Missense_Mutation	SNP	19 : 4457633 - 4457633 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	200	20
DENND2D	79961	broad.mit.edu	37	1	111738639	111738639	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111738639C>T	ENST00000357640.4	-	6	773	c.544G>A	c.(544-546)Gct>Act	p.A182T	DENND2D_ENST00000369752.5_Missense_Mutation_p.A179T|DENND2D_ENST00000473682.1_5'UTR	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	182	DENN.									breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		TAGATGACAGCCATGGAGATC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	79	82			NA	NA	1		NA											NA				111738639		2203	4300	6503	SO:0001583	missense				CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777	79961	79961		DENN/MADD domain containing	26192	protein-coding gene	gene with protein product		615111			NA	12477932	Standard	NM_024901	NM_024901	NA	Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.544G>A	1.37:g.111738639C>T	ENSP00000350266:p.Ala182Thr	NA	Q5T5V6|Q9BSU0	37	CCDS831.1	.	.	.	.	.	.	.	.	.	.	C	36	5.829128	0.96996	.	.	ENSG00000162777	ENST00000357640;ENST00000369752	T;T	0.11930	2.73;2.73	5.29	5.29	0.74685	DENN (3);	0.000000	0.85682	D	0.000000	T	0.29588	0.0738	M	0.78637	2.42	0.53688	D	0.999979	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.01720	-1.1288	10	0.34782	T	0.22	-14.3451	16.4125	0.83723	0.0:1.0:0.0:0.0	.	179;182	Q9H6A0-2;Q9H6A0	.;DEN2D_HUMAN	T	182;179	ENSP00000350266:A182T;ENSP00000358767:A179T	ENSP00000350266:A182T	A	-	1	0	DENND2D	111540162	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.818000	0.86416	2.471000	0.83476	0.555000	0.69702	GCT	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034456.1		-	ENST00000357640.4	Missense_Mutation	SNP	1 : 111738639 - 111738639 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	55
TAPBP	6892	broad.mit.edu	37	6	33272389	33272389	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33272389C>T	ENST00000489157.1	-	4	846	c.634G>A	c.(634-636)Gca>Aca	p.A212T	TAPBP_ENST00000426633.2_Missense_Mutation_p.A299T|TAPBP_ENST00000434618.2_Missense_Mutation_p.A299T|TAPBP_ENST00000456592.2_Missense_Mutation_p.A299T|TAPBP_ENST00000475304.1_Missense_Mutation_p.A317T			O15533	TPSN_HUMAN	TAP binding protein (tapasin)	299					antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						GCAAGGGTTGCTGGCATCAGG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	34	33			NA	NA	6		NA											NA				33272389		1947	4100	6047	SO:0001583	missense			Y13582	CCDS34426.1, CCDS34427.1, CCDS34428.1, CCDS34427.2, CCDS34428.2	6p21.3	2014-09-17			ENSG00000231925	ENSG00000231925	6892	6892		Immunoglobulin superfamily / C1-set domain containing	11566	protein-coding gene	gene with protein product		601962			NA	9238042	Standard		NM_003190	NA	Approved	TAPA	uc003odz.3	O15533	OTTHUMG00000031090	ENST00000489157.1:c.634G>A	6.37:g.33272389C>T	ENSP00000419659:p.Ala212Thr	NA	A2AB91|A2ABC0|B0V003|B0V0A6|O15210|O15272|Q5STJ8|Q5STK6|Q5STQ5|Q5STQ6|Q66K65|Q96KK7|Q9HAN8|Q9UEE0|Q9UEE4|Q9UIZ6|Q9Y6K2	37	CCDS34427.2	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776151	0.31411	.	.	ENSG00000231925	ENST00000434618;ENST00000475304;ENST00000489157;ENST00000426633;ENST00000456592;ENST00000449540	T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31	5.19	2.15	0.27550	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.444281	0.24513	N	0.037872	T	0.05731	0.0150	L	0.53249	1.67	0.31031	N	0.717382	P;P;P;P;B	0.45212	0.476;0.853;0.799;0.476;0.345	B;B;B;B;B	0.34138	0.045;0.176;0.162;0.031;0.02	T	0.19224	-1.0312	10	0.40728	T	0.16	-2.9447	10.6851	0.45837	0.5381:0.4618:0.0:0.0	.	299;212;317;299;299	G5E9H8;E9PGM2;A2AB90;O15533-3;O15533	.;.;.;.;TPSN_HUMAN	T	299;317;212;299;299;299	ENSP00000395701:A299T;ENSP00000417949:A317T;ENSP00000419659:A212T;ENSP00000404833:A299T;ENSP00000387803:A299T	ENSP00000404833:A299T	A	-	1	0	TAPBP	33380367	0.290000	0.24343	0.875000	0.34327	0.272000	0.26649	0.443000	0.21644	0.737000	0.32582	-0.335000	0.08231	GCA	TAPBP-006	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276425.2		-	ENST00000489157.1	Missense_Mutation	SNP	6 : 33272389 - 33272389 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	278	11
VPS53	55275	broad.mit.edu	37	17	531366	531366	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:531366G>T	ENST00000437048.2	-	9	939	c.793C>A	c.(793-795)Ctg>Atg	p.L265M	VPS53_ENST00000401468.3_Intron|VPS53_ENST00000291074.5_Missense_Mutation_p.L236M|VPS53_ENST00000571805.1_Missense_Mutation_p.L265M|VPS53_ENST00000446250.2_Missense_Mutation_p.L67M|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000574029.1_Intron	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	265					protein transport	endosome membrane|Golgi apparatus				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TACTCTGACAGATGCTGTTTA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	143	147			NA	NA	17		NA											NA				531366		2203	4300	6503	SO:0001583	missense				CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252	55275	55275			25608	protein-coding gene	gene with protein product		615850	vacuolar protein sorting 53 (yeast)		NA	15878329	Standard	NM_018289	NM_018289	NA	Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000437048.2:c.793C>A	17.37:g.531366G>T	ENSP00000401435:p.Leu265Met	NA	A8K2S8|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	37	CCDS45558.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190685	0.78789	.	.	ENSG00000141252	ENST00000437048;ENST00000446250;ENST00000291074	T;T;T	0.59906	0.23;0.23;0.23	6.04	5.08	0.68730	Vps53-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76248	0.3961	M	0.79614	2.46	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.988;0.996;0.998;0.996	T	0.80016	-0.1559	10	0.87932	D	0	-14.7172	14.7343	0.69404	0.0688:0.0:0.9312:0.0	.	265;67;265;236	Q5VIR6-4;G3V0H8;Q5VIR6;Q5VIR6-2	.;.;VPS53_HUMAN;.	M	265;67;236	ENSP00000401435:L265M;ENSP00000394386:L67M;ENSP00000291074:L236M	ENSP00000291074:L236M	L	-	1	2	VPS53	478116	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.478000	0.66806	1.584000	0.49913	-0.217000	0.12591	CTG	VPS53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000436930.5		-	ENST00000437048.2	Missense_Mutation	SNP	17 : 531366 - 531366 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	188	42
IGF2R	3482	broad.mit.edu	37	6	160480049	160480049	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160480049C>T	ENST00000356956.1	+	22	3158	c.3010C>T	c.(3010-3012)Cca>Tca	p.P1004S		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1004					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GCCAGCAAGGCCAGTCGGAAT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	118	120			NA	NA	6		NA											NA				160480049		2203	4300	6503	SO:0001583	missense			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081	3482	3482		CD molecules	5467	protein-coding gene	gene with protein product	cation-independent mannose-6 phosphate receptor	147280			NA		Standard	NM_000876	NM_000876	NA	Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.3010C>T	6.37:g.160480049C>T	ENSP00000349437:p.Pro1004Ser	NA	Q7Z7G9|Q96PT5	37	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	C	8.343	0.829125	0.16749	.	.	ENSG00000197081	ENST00000356956	T	0.02067	4.47	4.9	3.12	0.35913	Mannose-6-phosphate receptor, binding (1);	0.819431	0.11240	N	0.584753	T	0.01222	0.0040	L	0.60455	1.87	0.09310	N	1	B	0.21905	0.062	B	0.27608	0.081	T	0.45731	-0.9241	10	0.24483	T	0.36	-7.5375	12.2115	0.54381	0.1206:0.6412:0.2382:0.0	.	1004	P11717	MPRI_HUMAN	S	1004	ENSP00000349437:P1004S	ENSP00000349437:P1004S	P	+	1	0	IGF2R	160400039	0.425000	0.25498	0.093000	0.20910	0.005000	0.04900	0.873000	0.28052	0.268000	0.21939	-0.795000	0.03280	CCA	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042931.1		+	ENST00000356956.1	Missense_Mutation	SNP	6 : 160480049 - 160480049 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	565	90
SLC13A3	64849	broad.mit.edu	37	20	45188796	45188796	+	Silent	SNP	C	C	T	rs141947019		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45188796C>T	ENST00000279027.4	-	13	1692	c.1674G>A	c.(1672-1674)ctG>ctA	p.L558L	SLC13A3_ENST00000472148.1_Silent_p.L476L|SLC13A3_ENST00000290317.5_Silent_p.L511L|SLC13A3_ENST00000435032.1_Silent_p.L143L|SLC13A3_ENST00000413164.2_Silent_p.L508L|SLC13A3_ENST00000396360.1_Silent_p.L476L|SLC13A3_ENST00000495082.1_Silent_p.L511L	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	558						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CCAAACTGAGCAGCAGGACAC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	143	152			NA	NA	20		NA											NA				45188796		2203	4300	6503	SO:0001819	synonymous_variant			AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296	64849	64849		Solute carriers	14430	protein-coding gene	gene with protein product		606411			NA	10794676, 10992006	Standard		NM_001011554	NA	Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1674G>A	20.37:g.45188796C>T		NA	E1P5U4|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	37	CCDS13400.1																																																																																			SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080329.2		-	ENST00000279027.4	Silent	SNP	20 : 45188796 - 45188796 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	747	113
FAM159A	348378	broad.mit.edu	37	1	53122577	53122577	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53122577C>T	ENST00000517870.1	+	3	588	c.438C>T	c.(436-438)agC>agT	p.S146S	FAM159A_ENST00000401050.3_Intron	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	146						integral to membrane				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						AGCTGGAGAGCAATGAGGGGC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	103	101			NA	NA	1		NA											NA				53122577		2030	4205	6235	SO:0001819	synonymous_variant				CCDS41336.1	1p32.3	2008-08-08			ENSG00000182183	ENSG00000182183	348378	348378			28757	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_001042693	NM_001042693	NA	Approved	MGC52498	uc001cuf.3	Q6UWV7	OTTHUMG00000008330	ENST00000517870.1:c.438C>T	1.37:g.53122577C>T		NA	Q6ZRG4	37	CCDS41336.1																																																																																			FAM159A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022934.2		+	ENST00000517870.1	Silent	SNP	1 : 53122577 - 53122577 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	651	144
DDRGK1	65992	broad.mit.edu	37	20	3175985	3175985	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3175985C>T	ENST00000354488.3	-	5	582	c.525G>A	c.(523-525)agG>agA	p.R175R	DDRGK1_ENST00000380201.2_Silent_p.R175R	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	175						endoplasmic reticulum	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						CGCGGGCCTTCCTCTCCTCCT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	77	82			NA	NA	20		NA											NA				3175985		2203	4300	6503	SO:0001819	synonymous_variant			AL121891	CCDS13050.1	20p13	2011-08-18	2008-10-03	2008-10-03	ENSG00000198171	ENSG00000198171	65992	65992			16110	protein-coding gene	gene with protein product	Dashurin		chromosome 20 open reading frame 116	C20orf116	NA	20036718, 20228063, 21494687	Standard	NM_023935	NM_023935	NA	Approved	dJ1187M17.3	uc002wic.3	Q96HY6	OTTHUMG00000031732	ENST00000354488.3:c.525G>A	20.37:g.3175985C>T		NA	A6NIU5|C9JSZ5|Q9BW47	37	CCDS13050.1																																																																																			DDRGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077709.2		-	ENST00000354488.3	Silent	SNP	20 : 3175985 - 3175985 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	389	69
HDAC7	51564	broad.mit.edu	37	12	48185667	48185667	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48185667C>T	ENST00000080059.7	-	14	1798	c.1799G>A	c.(1798-1800)cGg>cAg	p.R600Q	HDAC7_ENST00000380610.4_Missense_Mutation_p.R617Q|HDAC7_ENST00000354334.3_Missense_Mutation_p.R563Q|HDAC7_ENST00000552960.1_Missense_Mutation_p.R583Q|HDAC7_ENST00000427332.2_Missense_Mutation_p.R561Q|HDAC7_ENST00000488927.1_5'UTR	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	561	Histone deacetylase.				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		ACACTGGCTCCGGAGCCCCCG	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													10	12	11			NA	NA	12		NA											NA				48185667		2188	4274	6462	SO:0001583	missense			AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273	51564	51564			14067	protein-coding gene	gene with protein product		606542	histone deacetylase 7A	HDAC7A	NA	10922406, 10640276	Standard		NM_015401	NA	Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000080059.7:c.1799G>A	12.37:g.48185667C>T	ENSP00000080059:p.Arg600Gln	NA	B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	37	CCDS8756.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.8|25.8	4.679823|4.679823	0.88542|0.88542	.|.	.|.	ENSG00000061273|ENSG00000061273	ENST00000548080|ENST00000080059;ENST00000354334;ENST00000552960;ENST00000380610;ENST00000427332	.|T;T;T;T;T	.|0.69926	.|-0.44;-0.44;-0.44;-0.44;-0.44	5.18|5.18	4.28|4.28	0.50868|0.50868	.|.	.|0.057425	.|0.64402	.|D	.|0.000002	T|T	0.58878|0.58878	0.2153|0.2153	L|L	0.35793|0.35793	1.09|1.09	0.45791|0.45791	D|D	0.998671|0.998671	.|B;P;D	.|0.62365	.|0.443;0.688;0.991	.|B;B;B	.|0.43867	.|0.081;0.014;0.434	T|T	0.62110|0.62110	-0.6923|-0.6923	5|10	.|0.48119	.|T	.|0.1	.|.	14.2362|14.2362	0.65929|0.65929	0.1505:0.8495:0.0:0.0|0.1505:0.8495:0.0:0.0	.|.	.|600;583;563	.|Q8WUI4-5;Q8WUI4-6;Q8WUI4-7	.|.;.;.	R|Q	41|600;563;583;617;561	.|ENSP00000080059:R600Q;ENSP00000351326:R563Q;ENSP00000448532:R583Q;ENSP00000369984:R617Q;ENSP00000404394:R561Q	.|ENSP00000080059:R600Q	G|R	-|-	1|2	0|0	HDAC7|HDAC7	46471934|46471934	0.896000|0.896000	0.30565|0.30565	0.921000|0.921000	0.36526|0.36526	0.984000|0.984000	0.73092|0.73092	2.420000|2.420000	0.44679|0.44679	1.315000|1.315000	0.45114|0.45114	0.558000|0.558000	0.71614|0.71614	GGA|CGG	HDAC7-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328792.1		-	ENST00000080059.7	Missense_Mutation	SNP	12 : 48185667 - 48185667 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	216	41
SH3BP1	23616	broad.mit.edu	37	22	38038957	38038957	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38038957G>A	ENST00000357436.4	+	5	653	c.340G>A	c.(340-342)Gag>Aag	p.E114K	SH3BP1_ENST00000442465.2_Missense_Mutation_p.E114K|SH3BP1_ENST00000599616.1_Missense_Mutation_p.E50K|SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000336738.5_Missense_Mutation_p.E114K|Z83844.1_ENST00000456099.1_RNA	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	114	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CATCCTGGCCGAGTTTGAGAT	0.642		NA									OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	55	58			NA	NA	22		NA											NA				38038957		2203	4300	6503	SO:0001583	missense				CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092	23616	23616		Rho GTPase activating proteins	10824	protein-coding gene	gene with protein product					NA	10591208, 12029088	Standard	NM_018957	NM_018957	NA	Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.340G>A	22.37:g.38038957G>A	ENSP00000350018:p.Glu114Lys	875	Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	37	CCDS13952.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099966	0.76983	.	.	ENSG00000100092	ENST00000357436;ENST00000336738;ENST00000442465;ENST00000397014	T;T;T	0.64618	-0.11;-0.11;-0.11	4.51	4.51	0.55191	BAR (2);	0.111773	0.39274	N	0.001419	T	0.70753	0.3260	L	0.43152	1.355	0.42677	D	0.993533	P;D;D;D;D	0.89917	0.763;1.0;0.992;1.0;1.0	B;D;P;D;D	0.69824	0.245;0.966;0.557;0.966;0.966	T	0.68640	-0.5355	10	0.31617	T	0.26	.	15.5694	0.76323	0.0:0.0:1.0:0.0	.	114;28;50;114;28	F5GZA8;E7EUD3;Q6ZT62;Q9Y3L3;Q6ZTJ5	.;.;.;3BP1_HUMAN;.	K	114;114;114;28	ENSP00000350018:E114K;ENSP00000337213:E114K;ENSP00000395126:E114K	ENSP00000337213:E114K	E	+	1	0	SH3BP1	36368903	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	3.545000	0.53648	2.338000	0.79540	0.491000	0.48974	GAG	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075884.4		+	ENST00000357436.4	Missense_Mutation	SNP	22 : 38038957 - 38038957 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	458	70
STAB2	55576	broad.mit.edu	37	12	104046365	104046365	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104046365C>T	ENST00000388887.2	+	12	1493	c.1289C>T	c.(1288-1290)gCt>gTt	p.A430V		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	430	FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AATAAAGCTGCTCAATACTTT	0.368		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	12		NA											NA				104046365		2203	4300	6503	SO:0001583	missense			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011	55576	55576			18629	protein-coding gene	gene with protein product	hyaluronic acid receptor for endocytosis	608561			NA	11829752, 12077138	Standard		XR_429107	NA	Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1289C>T	12.37:g.104046365C>T	ENSP00000373539:p.Ala430Val	NA	Q6ZMK2|Q7Z5N9|Q86UR4|Q8IUG9|Q8TES1|Q9H7H7|Q9NRY3	37	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459332	0.63401	.	.	ENSG00000136011	ENST00000388887	D	0.90444	-2.67	5.82	5.82	0.92795	FAS1 domain (5);	0.063342	0.64402	D	0.000010	D	0.93504	0.7927	M	0.81682	2.555	0.45035	D	0.998059	P	0.49090	0.919	P	0.49421	0.61	D	0.93115	0.6520	10	0.48119	T	0.1	.	19.7095	0.96089	0.0:1.0:0.0:0.0	.	430	Q8WWQ8	STAB2_HUMAN	V	430	ENSP00000373539:A430V	ENSP00000373539:A430V	A	+	2	0	STAB2	102570495	0.998000	0.40836	0.859000	0.33776	0.104000	0.19210	3.887000	0.56197	2.752000	0.94435	0.655000	0.94253	GCT	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407089.1		+	ENST00000388887.2	Missense_Mutation	SNP	12 : 104046365 - 104046365 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	350	14
MAST4	375449	broad.mit.edu	37	5	66084525	66084525	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66084525C>T	ENST00000403625.2	+	3	840	c.545C>T	c.(544-546)gCg>gTg	p.A182V	MAST4_ENST00000404260.3_Missense_Mutation_p.A182V|MAST4_ENST00000478569.1_3'UTR|MAST4_ENST00000406039.1_Missense_Mutation_p.A182V|MAST4_ENST00000406374.1_Missense_Mutation_p.A182V	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	182						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AACCCGGTGGCGGGACAGGCC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	45	44			NA	NA	5		NA											NA				66084525		1880	4108	5988	SO:0001583	missense			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020	375449	375449			19037	protein-coding gene	gene with protein product					NA	9205841	Standard		NM_198828	NA	Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.545C>T	5.37:g.66084525C>T	ENSP00000385727:p.Ala182Val	NA	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	37	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.513808|4.513808	0.85389|0.85389	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000406374;ENST00000406039;ENST00000432817|ENST00000452953	T;T;T;T;T|.	0.65364|.	-0.15;-0.15;1.47;1.48;0.94|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.452872|.	0.18800|.	N|.	0.130812|.	T|T	0.39759|0.39759	0.1090|0.1090	L|L	0.27053|0.27053	0.805|0.805	0.22666|0.22666	N|N	0.998873|0.998873	D;D|.	0.69078|.	0.997;0.991|.	P;P|.	0.56648|.	0.803;0.481|.	T|T	0.30650|0.30650	-0.9971|-0.9971	10|5	0.66056|.	D|.	0.02|.	.|.	15.9813|15.9813	0.80111|0.80111	0.0:0.8651:0.1349:0.0|0.0:0.8651:0.1349:0.0	.|.	182;182|.	E7EX28;O15021-4|.	.;.|.	V|W	182;182;182;182;54|55	ENSP00000385048:A182V;ENSP00000385727:A182V;ENSP00000385088:A182V;ENSP00000384547:A182V;ENSP00000413573:A54V|.	ENSP00000385727:A182V|.	A|R	+|+	2|1	0|2	MAST4|MAST4	66120281|66120281	0.494000|0.494000	0.26043|0.26043	0.021000|0.021000	0.16686|0.16686	0.722000|0.722000	0.41435|0.41435	2.684000|2.684000	0.46951|0.46951	2.677000|2.677000	0.91161|0.91161	0.557000|0.557000	0.71058|0.71058	GCG|CGG	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326324.2		+	ENST00000403625.2	Missense_Mutation	SNP	5 : 66084525 - 66084525 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	48
SLC34A1	6569	broad.mit.edu	37	5	176813105	176813105	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176813105C>T	ENST00000512593.1	+	3	328	c.227C>T	c.(226-228)gCc>gTc	p.A76V	SLC34A1_ENST00000324417.5_Missense_Mutation_p.A76V	NM_001167579.1	NP_001161051.1	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	76					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCACTGCCTGCCAAGCTGGCC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	34	32			NA	NA	5		NA											NA				176813105		2203	4300	6503	SO:0001583	missense			L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183	6569	6569		Solute carriers	11019	protein-coding gene	gene with protein product	sodium/phosphate co-transporter, solute carrier family 17 (sodium phosphate), member 2, Na+-phosphate cotransporter type II	182309	solute carrier family 34 (sodium phosphate), member 1	NPT2, SLC17A2	NA	8327470, 8693007	Standard	NM_003052	NM_003052	NA	Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000512593.1:c.227C>T	5.37:g.176813105C>T	ENSP00000423022:p.Ala76Val	NA		37	CCDS54953.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.561095	0.45590	.	.	ENSG00000131183	ENST00000504577;ENST00000512593;ENST00000324417	T;T	0.46819	0.86;1.49	5.06	4.19	0.49359	.	0.357702	0.26467	N	0.024205	T	0.31327	0.0793	L	0.27053	0.805	0.23056	N	0.998362	B	0.02656	0.0	B	0.04013	0.001	T	0.14504	-1.0470	10	0.39692	T	0.17	-19.1714	7.0723	0.25185	0.0:0.718:0.1893:0.0927	.	76	Q06495	NPT2A_HUMAN	V	76	ENSP00000423022:A76V;ENSP00000321424:A76V	ENSP00000321424:A76V	A	+	2	0	SLC34A1	176745711	0.147000	0.22687	0.999000	0.59377	0.917000	0.54804	-0.007000	0.12810	1.364000	0.46038	0.561000	0.74099	GCC	SLC34A1-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373162.1		+	ENST00000512593.1	Missense_Mutation	SNP	5 : 176813105 - 176813105 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	303	84
ASH1L	55870	broad.mit.edu	37	1	155313152	155313152	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155313152G>T	ENST00000368346.3	-	24	8900	c.8261C>A	c.(8260-8262)gCt>gAt	p.A2754D	ASH1L_ENST00000392403.3_Missense_Mutation_p.A2749D			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2754	BAH.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCCCACTACAGCCTCCAAGGG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	105	106			NA	NA	1		NA											NA				155313152		2203	4300	6503	SO:0001583	missense			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539	55870	55870		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	19088	protein-coding gene	gene with protein product		607999			NA	10860993, 16545939	Standard	NM_018489	NM_018489	NA	Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.8261C>A	1.37:g.155313152G>T	ENSP00000357330:p.Ala2754Asp	NA	Q59GP1|Q5T714|Q5T715|Q9P2C7	37		.	.	.	.	.	.	.	.	.	.	G	32	5.176866	0.94846	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.86164	-2.08;-2.08	5.3	5.3	0.74995	Bromo adjacent homology (BAH) domain (3);	0.000000	0.85682	D	0.000000	D	0.88577	0.6474	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.89183	0.3545	10	0.56958	D	0.05	.	18.7281	0.91722	0.0:0.0:1.0:0.0	.	2754;2749	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	D	2754;2749	ENSP00000357330:A2754D;ENSP00000376204:A2749D	ENSP00000357330:A2754D	A	-	2	0	ASH1L	153579776	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.623000	0.98386	2.757000	0.94681	0.561000	0.74099	GCT	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000039400.1		-	ENST00000368346.3	Missense_Mutation	SNP	1 : 155313152 - 155313152 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	389	72
ECHDC2	55268	broad.mit.edu	37	1	53370467	53370467	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53370467G>A	ENST00000371522.4	-	7	646	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L	ECHDC2_ENST00000536120.1_Silent_p.L139L|ECHDC2_ENST00000358358.5_Silent_p.L154L	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	185					fatty acid metabolic process	mitochondrion	lyase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						TCCTTCGCCAGGGCCACCCCC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	37	38			NA	NA	1		NA											NA				53370467		2203	4300	6503	SO:0001819	synonymous_variant			AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310	55268	55268			23408	protein-coding gene	gene with protein product			enoyl Coenzyme A hydratase domain containing 2		NA		Standard	NM_018281	NM_018281	NA	Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.553C>T	1.37:g.53370467G>A		NA	D3DQ36|Q9NV38	37	CCDS55600.1																																																																																			ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000024712.3		-	ENST00000371522.4	Silent	SNP	1 : 53370467 - 53370467 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	284	32
ARHGAP19	84986	broad.mit.edu	37	10	98989630	98989630	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98989630C>T	ENST00000358531.4	-	10	1314	c.1286G>A	c.(1285-1287)cGg>cAg	p.R429Q	ARHGAP19-SLIT1_ENST00000453547.2_Splice_Site_p.R429Q|ARHGAP19_ENST00000355366.5_Splice_Site_p.R420Q|ARHGAP19-SLIT1_ENST00000316676.8_Splice_Site_p.R429Q|ARHGAP19-SLIT1_ENST00000358308.3_Splice_Site_p.R400Q|ARHGAP19_ENST00000371027.1_Splice_Site_p.R420Q|ARHGAP19_ENST00000487035.1_5'UTR	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	429					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		CAGGACCTTCCGCTGATTTAA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	94	95	95		1199,1286	4.6	1	10		95	1,8599		0,1,4299	no	missense-near-splice,missense-near-splice	ARHGAP19	NM_001204300.1,NM_032900.5	43,43	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging	400/466,429/495	98989630	1,13005	2203	4300	6503	SO:0001630	splice_region_variant			AK074122	CCDS7454.2, CCDS58092.1, CCDS73175.1	10q24.2	2011-06-29			ENSG00000213390	ENSG00000213390	84986	84986		Rho GTPase activating proteins	23724	protein-coding gene	gene with protein product		611587			NA		Standard	NM_032900	NM_032900	NA	Approved	FLJ00194, MGC14258	uc001knb.3	Q14CB8	OTTHUMG00000018845	ENST00000358531.4:c.1285-1G>A	10.37:g.98989630C>T		NA	A1XCP1|B4DZR1|Q14CF2|Q5J8M2|Q5T460|Q5T462|Q68DG6|Q8N9X1|Q8NF34|Q8TEK1	37	CCDS7454.2	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592825	0.86953	0.0	1.16E-4	ENSG00000213390	ENST00000453547;ENST00000316676;ENST00000355366;ENST00000358531;ENST00000371027;ENST00000393817;ENST00000358308	T;T;T;T;T;T	0.16897	2.65;2.69;2.72;2.69;2.72;2.31	5.46	4.55	0.56014	.	0.000000	0.64402	U	0.000001	T	0.30696	0.0773	M	0.64997	1.995	0.43857	D	0.996459	D;D;D	0.76494	0.994;0.995;0.999	P;P;P	0.57152	0.653;0.56;0.814	T	0.03514	-1.1029	10	0.72032	D	0.01	-1.2313	9.9455	0.41607	0.0:0.9063:0.0:0.0937	.	400;429;420	Q14CB8-6;Q14CB8;Q14CB8-3	.;RHG19_HUMAN;.	Q	429;429;420;429;420;248;400	ENSP00000414774:R429Q;ENSP00000324468:R429Q;ENSP00000347526:R420Q;ENSP00000351333:R429Q;ENSP00000360066:R420Q;ENSP00000351058:R400Q	ENSP00000324468:R429Q	R	-	2	0	ARHGAP19	98979620	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.373000	0.44266	1.288000	0.44600	0.655000	0.94253	CGG	ARHGAP19-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049647.2	Missense_Mutation	-	ENST00000358531.4	Splice_Site	SNP	10 : 98989630 - 98989630 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	514	88
ALPP	250	broad.mit.edu	37	2	233244978	233244978	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233244978G>A	ENST00000392027.2	+	6	1009	c.740G>A	c.(739-741)gGg>gAg	p.G247E	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	247						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	p.G247V(1)		NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		AGCCAAGGTGGGACCAGGCTG	0.627		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)											106	102	103			NA	NA	2		NA											NA				233244978		2203	4300	6503	SO:0001583	missense			M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	250	250	3.1.3.1		439	protein-coding gene	gene with protein product	Regan isozyme	171800	alkaline phosphatase, placental (Regan isozyme)		NA	3001717, 3461452	Standard	NM_001632	XM_005246439	NA	Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.740G>A	2.37:g.233244978G>A	ENSP00000375881:p.Gly247Glu	NA	P05188|P06861|Q53S78|Q96DB7	37	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	.	17.53	3.412497	0.62511	.	.	ENSG00000163283	ENST00000392027	D	0.98926	-5.24	2.31	2.31	0.28768	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.116221	0.64402	D	0.000010	D	0.99158	0.9709	M	0.91140	3.18	0.54753	D	0.999985	D	0.89917	1.0	D	0.97110	1.0	D	0.99091	1.0840	10	0.87932	D	0	.	12.9891	0.58608	0.0:0.0:1.0:0.0	.	247	P05187	PPB1_HUMAN	E	247	ENSP00000375881:G247E	ENSP00000375881:G247E	G	+	2	0	ALPP	232953222	1.000000	0.71417	0.002000	0.10522	0.011000	0.07611	6.965000	0.76067	1.289000	0.44618	0.298000	0.19748	GGG	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257032.3		+	ENST00000392027.2	Missense_Mutation	SNP	2 : 233244978 - 233244978 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1152	109
GABRB3	2562	broad.mit.edu	37	15	26866564	26866564	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:26866564C>T	ENST00000541819.2	-	5	628	c.526G>A	c.(526-528)Gac>Aac	p.D176N	GABRB3_ENST00000311550.5_Missense_Mutation_p.D120N|GABRB3_ENST00000400188.3_Missense_Mutation_p.D49N|GABRB3_ENST00000299267.4_Missense_Mutation_p.D120N|GABRB3_ENST00000545868.1_Missense_Mutation_p.D35N			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	120					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.D120Y(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AAATATGTGTCGGGCACCCAT	0.463		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)											107	102	104			NA	NA	15		NA											NA				26866564		2203	4300	6503	SO:0001583	missense				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206	2562	2562		GABA receptors, Ligand-gated ion channels / GABA(A) receptors	4083	protein-coding gene	gene with protein product	GABA(A) receptor, beta 3	137192			NA		Standard		NM_000814	NA	Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000541819.2:c.526G>A	15.37:g.26866564C>T	ENSP00000442408:p.Asp176Asn	NA	Q14352|Q96FM5	37		.	.	.	.	.	.	.	.	.	.	C	36	5.652241	0.96724	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868;ENST00000555094	D;D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84;-1.84	5.81	5.81	0.92471	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.94098	0.8108	M	0.89658	3.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94638	0.7828	10	0.87932	D	0	.	19.0679	0.93119	0.0:1.0:0.0:0.0	.	176;120;120	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	N	120;176;120;49;35;35	ENSP00000308725:D120N;ENSP00000442408:D176N;ENSP00000299267:D120N;ENSP00000383049:D49N;ENSP00000439169:D35N;ENSP00000452272:D35N	ENSP00000299267:D120N	D	-	1	0	GABRB3	24417657	1.000000	0.71417	0.991000	0.47740	0.989000	0.77384	7.665000	0.83852	2.752000	0.94435	0.467000	0.42956	GAC	GABRB3-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000414986.2		-	ENST00000541819.2	Missense_Mutation	SNP	15 : 26866564 - 26866564 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	494	87
KLF17	128209	broad.mit.edu	37	1	44595120	44595120	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44595120G>T	ENST00000372299.3	+	2	235	c.177G>T	c.(175-177)caG>caT	p.Q59H	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	59					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					CAAGCATTCAGCACTTTCCTC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	80	85			NA	NA	1		NA											NA				44595120		2203	4300	6503	SO:0001583	missense			BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872	128209	128209		Zinc fingers, C2H2-type, Kruppel-like transcription factors	18830	protein-coding gene	gene with protein product		609602	zinc finger protein 393	ZNF393	NA	16460907	Standard	NM_173484	NM_173484	NA	Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.177G>T	1.37:g.44595120G>T	ENSP00000361373:p.Gln59His	NA	Q86VQ7|Q8N805	37	CCDS508.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.865481	0.51588	.	.	ENSG00000171872	ENST00000372299	T	0.10573	2.86	4.58	-5.08	0.02929	.	0.272363	0.26638	N	0.023272	T	0.05640	0.0148	L	0.34521	1.04	0.09310	N	1	B	0.34290	0.447	B	0.30179	0.112	T	0.13764	-1.0497	10	0.56958	D	0.05	.	6.6062	0.22726	0.2676:0.2857:0.4468:0.0	.	59	Q5JT82	KLF17_HUMAN	H	59	ENSP00000361373:Q59H	ENSP00000361373:Q59H	Q	+	3	2	KLF17	44367707	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.393000	0.07305	-1.037000	0.03283	-0.781000	0.03364	CAG	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026646.1		+	ENST00000372299.3	Missense_Mutation	SNP	1 : 44595120 - 44595120 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	416	43
MYT1	4661	broad.mit.edu	37	20	62843485	62843485	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62843485A>G	ENST00000328439.1	+	9	1875	c.1511A>G	c.(1510-1512)cAc>cGc	p.H504R	MYT1_ENST00000536311.1_Missense_Mutation_p.H504R|MYT1_ENST00000360149.4_Missense_Mutation_p.H206R	NM_004535.2	NP_004526.1	Q01538	MYT1_HUMAN	myelin transcription factor 1	504					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CGCAACACGCACAGAAGGTAC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(59;481 1041 20555 21139 33705)							NA				0													103	98	99			NA	NA	20		NA											NA				62843485		2203	4300	6503	SO:0001583	missense			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132	4661	4661		Zinc fingers, C2HC-type containing	7622	protein-coding gene	gene with protein product	neural zinc finger transcription factor 2	600379		PLPB1	NA	1280325, 9268380	Standard	NM_004535	NM_004535	NA	Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1511A>G	20.37:g.62843485A>G	ENSP00000327465:p.His504Arg	NA	E1P5H0|O94922|Q9UPV2	37	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.842425	0.51057	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.61040	0.26;0.14;1.66	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.80204	0.4580	M	0.91561	3.22	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.85130	0.995;0.997;0.997	D	0.85237	0.1036	10	0.87932	D	0	-25.2467	14.0537	0.64754	1.0:0.0:0.0:0.0	.	504;504;206	F5H7M8;Q01538;Q6P6D5	.;MYT1_HUMAN;.	R	206;504;504	ENSP00000353269:H206R;ENSP00000327465:H504R;ENSP00000442412:H504R	ENSP00000327465:H504R	H	+	2	0	MYT1	62313929	1.000000	0.71417	0.986000	0.45419	0.686000	0.39977	9.204000	0.95041	1.777000	0.52277	0.455000	0.32223	CAC	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080297.1		+	ENST00000328439.1	Missense_Mutation	SNP	20 : 62843485 - 62843485 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	532	135
DDN	23109	broad.mit.edu	37	12	49392084	49392084	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49392084G>A	ENST00000421952.2	-	2	596	c.575C>T	c.(574-576)cCc>cTc	p.P192L		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	192	Interaction with MAGI2.					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						ACCTCCCCAGGGCCCCGCCCA	0.781		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													5	7	6			NA	NA	12		NA											NA				49392084		1593	3394	4987	SO:0001583	missense			AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418	23109	23109			24458	protein-coding gene	gene with protein product		610588			NA		Standard		NM_015086	NA	Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.575C>T	12.37:g.49392084G>A	ENSP00000390590:p.Pro192Leu	NA		37	CCDS31791.2	.	.	.	.	.	.	.	.	.	.	G	4.344	0.063238	0.08388	.	.	ENSG00000181418	ENST00000421952	T	0.40476	1.03	3.56	2.66	0.31614	.	0.356051	0.20815	N	0.085168	T	0.34106	0.0886	L	0.27053	0.805	0.45161	D	0.998172	P	0.51351	0.944	P	0.47470	0.548	T	0.15954	-1.0419	10	0.72032	D	0.01	-5.7798	9.1059	0.36698	0.0:0.2233:0.7767:0.0	.	192	O94850	DEND_HUMAN	L	192	ENSP00000390590:P192L	ENSP00000390590:P192L	P	-	2	0	DDN	47678351	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.460000	0.35244	1.077000	0.40990	0.561000	0.74099	CCC	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343335.1		-	ENST00000421952.2	Missense_Mutation	SNP	12 : 49392084 - 49392084 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	127	34
NEU4	129807	broad.mit.edu	37	2	242755732	242755732	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242755732G>T	ENST00000391969.2	+	3	762	c.51G>T	c.(49-51)agG>agT	p.R17S	NEU4_ENST00000407683.1_Missense_Mutation_p.R17S|NEU4_ENST00000404257.1_Missense_Mutation_p.R29S|NEU4_ENST00000405370.1_Missense_Mutation_p.R17S|NEU4_ENST00000325935.6_Missense_Mutation_p.R30S	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	17						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		AGCGGGAGAGGACGGGCCTGA	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	37	36			NA	NA	2		NA											NA				242755732		2203	4300	6503	SO:0001583	missense			BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099	129807	129807			21328	protein-coding gene	gene with protein product		608527			NA		Standard	NM_080741	NM_001167600	NA	Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.51G>T	2.37:g.242755732G>T	ENSP00000375830:p.Arg17Ser	NA	Q96D64	37	CCDS54442.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.375|0.375	-0.932103|-0.932103	0.02359|0.02359	.|.	.|.	ENSG00000204099|ENSG00000204099	ENST00000472793|ENST00000407683;ENST00000415936;ENST00000405370;ENST00000423583;ENST00000404257;ENST00000391969;ENST00000325935;ENST00000435894;ENST00000426032;ENST00000420288;ENST00000428592	.|T;D;T;T;T;T;T;D;D;T;T	.|0.83992	.|3.12;-1.79;3.12;3.12;3.12;3.12;3.12;-1.79;-1.79;3.12;3.12	3.76|3.76	-0.00139|-0.00139	0.14034|0.14034	.|Neuraminidase (2);	.|0.632273	.|0.15467	.|U	.|0.260836	T|T	0.60958|0.60958	0.2309|0.2309	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.25169	.|0.073;0.119;0.069	.|B;B;B	.|0.20955	.|0.011;0.026;0.032	T|T	0.44862|0.44862	-0.9300|-0.9300	6|10	0.66056|0.13108	D|T	0.02|0.6	-18.7405|-18.7405	4.3633|4.3633	0.11213|0.11213	0.4027:0.398:0.1992:0.0|0.4027:0.398:0.1992:0.0	.|.	.|29;29;17	.|A8K211;Q8WWR8-2;Q8WWR8	.|.;.;NEUR4_HUMAN	Y|S	41|17;17;17;17;29;17;30;17;29;17;58	.|ENSP00000385402:R17S;ENSP00000397167:R17S;ENSP00000384804:R17S;ENSP00000397860:R17S;ENSP00000385149:R29S;ENSP00000375830:R17S;ENSP00000320318:R30S;ENSP00000398571:R17S;ENSP00000406678:R29S;ENSP00000388707:R17S;ENSP00000396197:R58S	ENSP00000441629:D41Y|ENSP00000320318:R30S	D|R	+|+	1|3	0|2	NEU4|NEU4	242404405|242404405	0.000000|0.000000	0.05858|0.05858	0.013000|0.013000	0.15412|0.15412	0.152000|0.152000	0.21847|0.21847	-0.128000|-0.128000	0.10531|0.10531	0.100000|0.100000	0.17581|0.17581	0.443000|0.443000	0.29094|0.29094	GAC|AGG	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257270.2		+	ENST00000391969.2	Missense_Mutation	SNP	2 : 242755732 - 242755732 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	74
BDH1	622	broad.mit.edu	37	3	197241204	197241204	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197241204C>T	ENST00000441275.1	-	6	764	c.232G>A	c.(232-234)Gca>Aca	p.A78T	BDH1_ENST00000358186.2_Missense_Mutation_p.A165T|BDH1_ENST00000392378.2_Missense_Mutation_p.A165T|BDH1_ENST00000392379.1_Missense_Mutation_p.A165T			Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	165					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	TTCACTTCTGCCACCTGCTTG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	122	133			NA	NA	3		NA											NA				197241204		2203	4300	6503	SO:0001583	missense			M93107	CCDS3328.1	3q29	2011-09-14	2005-11-15	2005-11-15	ENSG00000161267	ENSG00000161267	622	622	1.1.1.30	Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2	1027	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 9C, member 1	603063	3-hydroxybutyrate dehydrogenase (heart, mitochondrial)	BDH	NA	1639787, 19027726	Standard	NM_004051	XM_005269352	NA	Approved	SDR9C1	uc003fxs.3	Q02338	OTTHUMG00000155478	ENST00000441275.1:c.232G>A	3.37:g.197241204C>T	ENSP00000411014:p.Ala78Thr	NA	D3DXC0|Q96ET1|Q9BRZ4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.541301|4.541301	0.85917|0.85917	.|.	.|.	ENSG00000161267|ENSG00000161267	ENST00000392378;ENST00000358186;ENST00000392379;ENST00000441275;ENST00000446746;ENST00000434143;ENST00000432819|ENST00000455876	D;D;D;D;D;D;D|.	0.87491|.	-2.26;-2.26;-2.26;-2.26;-2.26;-2.26;-2.26|.	5.02|5.02	5.02|5.02	0.67125|0.67125	NAD(P)-binding domain (1);|.	0.055371|.	0.64402|.	D|.	0.000001|.	T|.	0.52837|.	0.1759|.	N|N	0.20986|0.20986	0.625|0.625	0.53688|0.53688	D|D	0.999971|0.999971	P|.	0.46859|.	0.885|.	P|.	0.51297|.	0.665|.	T|.	0.48043|.	-0.9069|.	10|.	0.26408|.	T|.	0.33|.	.|.	16.2301|16.2301	0.82332|0.82332	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	165|.	Q02338|.	BDH_HUMAN|.	T|X	165;165;165;78;78;146;165|21	ENSP00000376183:A165T;ENSP00000350914:A165T;ENSP00000376184:A165T;ENSP00000411014:A78T;ENSP00000387648:A78T;ENSP00000408685:A146T;ENSP00000409849:A165T|.	ENSP00000350914:A165T|.	A|W	-|-	1|3	0|0	BDH1|BDH1	198725601|198725601	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.980000|0.980000	0.70556|0.70556	6.096000|6.096000	0.71446|0.71446	2.509000|2.509000	0.84616|0.84616	0.555000|0.555000	0.69702|0.69702	GCA|TGG	BDH1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000340268.1		-	ENST00000441275.1	Missense_Mutation	SNP	3 : 197241204 - 197241204 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	393	37
SLC17A9	63910	broad.mit.edu	37	20	61598818	61598818	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61598818G>T	ENST00000370349.3	+	14	1463	c.1259G>T	c.(1258-1260)aGg>aTg	p.R420M	SLC17A9_ENST00000370351.4_Missense_Mutation_p.R426M|SLC17A9_ENST00000488738.1_3'UTR			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	426					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CAGGCTCAGAGGGTGGACCTG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	151	148			NA	NA	20		NA											NA				61598818		2075	4199	6274	SO:0001583	missense			AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194	63910	63910		Solute carriers	16192	protein-coding gene	gene with protein product		612107	chromosome 20 open reading frame 59, solute carrier family 17, member 9	C20orf59	NA	18375752	Standard	NM_022082	NM_022082	NA	Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370349.3:c.1259G>T	20.37:g.61598818G>T	ENSP00000359374:p.Arg420Met	NA	B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	37		.	.	.	.	.	.	.	.	.	.	G	19.86	3.904909	0.72868	.	.	ENSG00000101194	ENST00000370351;ENST00000370349	T;T	0.62941	-0.01;-0.01	4.9	3.95	0.45737	Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.79143	0.4396	M	0.83012	2.62	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.76071	0.984;0.987	T	0.81571	-0.0872	10	0.62326	D	0.03	.	13.016	0.58757	0.0785:0.0:0.9215:0.0	.	426;420	Q9BYT1;Q9BYT1-2	S17A9_HUMAN;.	M	426;420	ENSP00000359376:R426M;ENSP00000359374:R420M	ENSP00000359374:R420M	R	+	2	0	SLC17A9	61069263	1.000000	0.71417	0.592000	0.28758	0.922000	0.55478	8.223000	0.89779	1.053000	0.40415	0.561000	0.74099	AGG	SLC17A9-007	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000080106.1		+	ENST00000370349.3	Missense_Mutation	SNP	20 : 61598818 - 61598818 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	728	68
NIPBL	25836	broad.mit.edu	37	5	37051929	37051929	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37051929C>T	ENST00000282516.8	+	41	7502	c.7003C>T	c.(7003-7005)Cgg>Tgg	p.R2335W	NIPBL_ENST00000448238.2_Missense_Mutation_p.R2335W	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2335					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACCTGCTATGCGGAACAAGGC	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	87	85			NA	NA	5		NA											NA				37051929		2203	4300	6503	SO:0001583	missense			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190	25836	25836			28862	protein-coding gene	gene with protein product	sister chromatid cohesion 2 homolog (yeast)	608667			NA	15146186, 15146185	Standard	NM_015384	NM_133433	NA	Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.7003C>T	5.37:g.37051929C>T	ENSP00000282516:p.Arg2335Trp	NA	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.828942	0.71258	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.73363	-0.74;-0.74	5.69	3.78	0.43462	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85826	0.5787	M	0.81341	2.54	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.99;0.985	D	0.86754	0.1962	10	0.72032	D	0.01	-6.7737	14.2046	0.65725	0.4468:0.5532:0.0:0.0	.	2335;2335;2335	Q6IEH8;Q6KC79;Q6KC79-2	.;NIPBL_HUMAN;.	W	2335	ENSP00000282516:R2335W;ENSP00000406266:R2335W	ENSP00000282516:R2335W	R	+	1	2	NIPBL	37087686	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.838000	0.39211	0.593000	0.29745	0.557000	0.71058	CGG	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207582.1		+	ENST00000282516.8	Missense_Mutation	SNP	5 : 37051929 - 37051929 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	350	56
COG2	22796	broad.mit.edu	37	1	230805251	230805251	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230805251C>T	ENST00000534989.1	+	7	902	c.567C>T	c.(565-567)ggC>ggT	p.G189G	COG2_ENST00000535166.1_Silent_p.G132G|COG2_ENST00000366669.4_Silent_p.G248G|COG2_ENST00000366668.3_Silent_p.G248G			Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	248					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CCTTAGTTGGCCAAGTACTAG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	71	76			NA	NA	1		NA											NA				230805251		2203	4300	6503	SO:0001819	synonymous_variant			Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775	22796	22796		Components of oligomeric golgi complex	6546	protein-coding gene	gene with protein product		606974	low density lipoprotein receptor defect C complementing	LDLC	NA	7962052	Standard	NM_007357	NM_007357	NA	Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000534989.1:c.567C>T	1.37:g.230805251C>T		NA		37																																																																																				COG2-010	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000472446.1		+	ENST00000534989.1	Silent	SNP	1 : 230805251 - 230805251 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	241	11
ATP10D	57205	broad.mit.edu	37	4	47560058	47560058	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47560058G>A	ENST00000273859.3	+	12	2471	c.2202G>A	c.(2200-2202)gtG>gtA	p.V734V	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	734					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CGGCCTTAGTGTATGCCGCCA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	80	84			NA	NA	4		NA											NA				47560058		2203	4300	6503	SO:0001819	synonymous_variant			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246	57205	57205		ATPases / P-type	13549	protein-coding gene	gene with protein product			ATPase, Class V, type 10D		NA	12532265	Standard	NM_020453	NM_020453	NA	Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.2202G>A	4.37:g.47560058G>A		NA	A2RRC8|D6REN2|Q8NC70|Q96SR3	37	CCDS3476.1																																																																																			ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216900.1		+	ENST00000273859.3	Silent	SNP	4 : 47560058 - 47560058 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	348	60
MTMR4	9110	broad.mit.edu	37	17	56586165	56586165	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56586165G>T	ENST00000323456.5	-	6	455	c.331C>A	c.(331-333)Ctc>Atc	p.L111I	MTMR4_ENST00000579925.1_Missense_Mutation_p.L111I	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	111						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGCCGTGAGAGCCACTCTTGG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	47	50			NA	NA	17		NA											NA				56586165		2203	4300	6503	SO:0001583	missense			AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389	9110	9110		Zinc fingers, FYVE domain containing, Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins	7452	protein-coding gene	gene with protein product		603559			NA	9736772	Standard	NM_004687	NM_004687	NA	Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.331C>A	17.37:g.56586165G>T	ENSP00000325285:p.Leu111Ile	NA	D3DTZ6|Q8IV27|Q9Y4D5	37	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.942278	0.34283	.	.	ENSG00000108389	ENST00000323456	D	0.82893	-1.66	5.91	4.76	0.60689	.	0.205916	0.42821	D	0.000659	T	0.79293	0.4421	L	0.50333	1.59	0.47547	D	0.999459	P	0.41313	0.745	B	0.39419	0.299	T	0.79988	-0.1571	10	0.44086	T	0.13	.	14.7036	0.69171	0.0825:0.0:0.9175:0.0	.	111	Q9NYA4	MTMR4_HUMAN	I	111	ENSP00000325285:L111I	ENSP00000325285:L111I	L	-	1	0	MTMR4	53941164	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.297000	0.51810	2.813000	0.96785	0.655000	0.94253	CTC	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444721.1		-	ENST00000323456.5	Missense_Mutation	SNP	17 : 56586165 - 56586165 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	230	53
RXFP1	59350	broad.mit.edu	37	4	159566237	159566237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159566237C>T	ENST00000470033.1	+	14	1193	c.1193C>T	c.(1192-1194)cCt>cTt	p.P398L	RXFP1_ENST00000343542.5_Missense_Mutation_p.P383L|RXFP1_ENST00000448688.2_Missense_Mutation_p.P326L|RXFP1_ENST00000460056.2_Missense_Mutation_p.P350L|RXFP1_ENST00000307765.5_Missense_Mutation_p.P431L			Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	431						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TGCATGCGACCTTATATCAGG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	117	120			NA	NA	4		NA											NA				159566237		1880	4119	5999	SO:0001583	missense			AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509	59350	59350		GPCR / Class A : Relaxin family peptide receptors	19718	protein-coding gene	gene with protein product		606654	leucine-rich repeat-containing G protein-coupled receptor 7	LGR7	NA	15956688, 16507880	Standard	NM_021634	NM_021634	NA	Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000470033.1:c.1193C>T	4.37:g.159566237C>T	ENSP00000420712:p.Pro398Leu	NA	B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	37	CCDS58930.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654980	0.47467	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46	5.76	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.155348	0.64402	D	0.000014	T	0.08223	0.0205	N	0.00991	-1.07	0.50039	D	0.99984	B;B;B;B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.06405	0.002;0.002;0.001;0.001;0.001;0.0;0.002;0.001	T	0.23404	-1.0189	10	0.02654	T	1	.	8.1939	0.31385	0.1294:0.7361:0.0:0.1345	.	442;458;326;383;398;350;301;431	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q9HBX9	.;.;.;.;.;.;.;RXFP1_HUMAN	L	350;431;326;383;398;301	ENSP00000423306:P350L;ENSP00000303248:P431L;ENSP00000414885:P326L;ENSP00000345889:P383L;ENSP00000420712:P398L	ENSP00000303248:P431L	P	+	2	0	RXFP1	159785687	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.826000	0.62715	0.767000	0.33267	-0.244000	0.11960	CCT	RXFP1-006	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000314869.1		+	ENST00000470033.1	Missense_Mutation	SNP	4 : 159566237 - 159566237 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	560	108
CEACAM3	1084	broad.mit.edu	37	19	42301583	42301583	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42301583C>T	ENST00000357396.3	+	2	368	c.127C>T	c.(127-129)Ctc>Ttc	p.L43F	CEACAM3_ENST00000344550.4_Missense_Mutation_p.L43F|CEACAM3_ENST00000221999.4_Missense_Mutation_p.L43F|CEACAM3_ENST00000595255.1_3'UTR	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	43	Ig-like V-type.					integral to membrane				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						ATCCATGCCGCTCAGTGTCGC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	147	150			NA	NA	19		NA											NA				42301583		2203	4300	6503	SO:0001583	missense			E03349	CCDS12586.2, CCDS62685.1	19q13.2	2013-01-11			ENSG00000170956	ENSG00000170956	1084	1084		CD molecules, Immunoglobulin superfamily / V-set domain containing	1815	protein-coding gene	gene with protein product		609142		CGM1	NA		Standard	NM_001815	NM_001815	NA	Approved	CD66d	uc002orn.2	P40198	OTTHUMG00000150142	ENST00000357396.3:c.127C>T	19.37:g.42301583C>T	ENSP00000349971:p.Leu43Phe	NA	Q3KPH9	37	CCDS12586.2	.	.	.	.	.	.	.	.	.	.	T	4.731	0.136010	0.09032	.	.	ENSG00000170956	ENST00000357396;ENST00000389667;ENST00000221999;ENST00000344550	T;T;T	0.68903	-0.36;-0.36;-0.36	3.44	-6.21	0.02065	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.23171	0.0560	N	0.00446	-1.495	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28396	-1.0045	9	0.14656	T	0.56	.	5.5198	0.16925	0.1327:0.5783:0.1335:0.1555	.	43;43	G5E978;P40198	.;CEAM3_HUMAN	F	43	ENSP00000349971:L43F;ENSP00000221999:L43F;ENSP00000341725:L43F	ENSP00000221999:L43F	L	+	1	0	CEACAM3	46993423	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.016000	0.00313	-2.027000	0.00932	-0.439000	0.05793	CTC	CEACAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316509.2		+	ENST00000357396.3	Missense_Mutation	SNP	19 : 42301583 - 42301583 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	993	188
MGEA5	10724	broad.mit.edu	37	10	103565854	103565854	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103565854A>C	ENST00000361464.3	-	6	1094	c.699T>G	c.(697-699)taT>taG	p.Y233*	MGEA5_ENST00000419011.2_3'UTR|MGEA5_ENST00000357797.5_Nonsense_Mutation_p.Y233*|MGEA5_ENST00000370094.3_Nonsense_Mutation_p.Y233*|MGEA5_ENST00000439817.1_Nonsense_Mutation_p.Y233*	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	233					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		CAGTCCTTAAATATGGAGACT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	61	62			NA	NA	10		NA											NA				103565854		2203	4300	6503	SO:0001587	stop_gained			AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408	10724	10724			7056	protein-coding gene	gene with protein product	nuclear cytoplasmic O-GlcNAcase and acetyltransferase	604039			NA	9811929, 16356930	Standard	NM_012215	NM_012215	NA	Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.699T>G	10.37:g.103565854A>C	ENSP00000354850:p.Tyr233*	NA	B7WPB9|D3DR79|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	37	CCDS7520.1	.	.	.	.	.	.	.	.	.	.	A	37	6.507353	0.97624	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797;ENST00000370094	.	.	.	5.27	0.378	0.16204	.	0.130087	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5857	8.4558	0.32899	0.6723:0.0:0.3277:0.0	.	.	.	.	X	233	.	ENSP00000350445:Y233X	Y	-	3	2	MGEA5	103555844	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	1.082000	0.30803	-0.170000	0.10816	0.529000	0.55759	TAT	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049987.1		-	ENST00000361464.3	Nonsense_Mutation	SNP	10 : 103565854 - 103565854 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	282	64
TP63	8626	broad.mit.edu	37	3	189349364	189349364	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:189349364G>T	ENST00000264731.3	+	1	149	c.60G>T	c.(58-60)caG>caT	p.Q20H	TP63_ENST00000320472.5_Missense_Mutation_p.Q20H|TP63_ENST00000382063.4_Missense_Mutation_p.Q20H|TP63_ENST00000418709.2_Missense_Mutation_p.Q20H|TP63_ENST00000440651.2_Missense_Mutation_p.Q20H|TP63_ENST00000392460.3_Missense_Mutation_p.Q20H	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	20	Transcription activation.				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CTTACATCCAGCGGTGAGTTT	0.403		NA								HNSCC(45;0.13)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	154	159			NA	NA	3		NA											NA				189349364		2203	4300	6503	SO:0001583	missense			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282	8626	8626			15979	protein-coding gene	gene with protein product		603273	tumor protein p73-like, tumor protein p53-like, tumor protein p53-competing protein	TP73L, TP53L, TP53CP	NA	9774969, 9662378, 11181441, 11181451	Standard	NM_003722	NM_003722	NA	Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.60G>T	3.37:g.189349364G>T	ENSP00000264731:p.Gln20His	NA	O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	37	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531329	0.27387	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063	D;D;D;D;D;D	0.99680	-6.0;-6.27;-6.23;-6.24;-6.0;-6.38	5.72	5.72	0.89469	.	0.411940	0.24076	N	0.041763	D	0.97763	0.9266	N	0.08118	0	0.80722	D	1	P;P;B;P	0.41848	0.763;0.523;0.34;0.523	B;B;B;B	0.41088	0.24;0.24;0.121;0.347	D	0.98181	1.0457	9	.	.	.	-6.671	12.2156	0.54404	0.0772:0.0:0.9228:0.0	.	20;20;20;20	Q9H3D4-7;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;P63_HUMAN;.	H	20	ENSP00000264731:Q20H;ENSP00000407144:Q20H;ENSP00000317510:Q20H;ENSP00000376253:Q20H;ENSP00000394337:Q20H;ENSP00000371495:Q20H	.	Q	+	3	2	TP63	190832058	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.350000	0.52224	2.695000	0.91970	0.655000	0.94253	CAG	TP63-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343865.1		+	ENST00000264731.3	Missense_Mutation	SNP	3 : 189349364 - 189349364 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	860	129
NCOA2	10499	broad.mit.edu	37	8	71068359	71068359	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71068359A>G	ENST00000452400.2	-	11	2422	c.2241T>C	c.(2239-2241)taT>taC	p.Y747Y	NCOA2_ENST00000524223.1_5'UTR	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	747					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TATCTAGCAAATAGCGAAGTA	0.438		NA	T	RUNXBP2, HEY1	AML, Chondrosarcoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	0													134	133	133			NA	NA	8		NA											NA				71068359		1857	4098	5955	SO:0001819	synonymous_variant			X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396	10499	10499		Chromatin-modifying enzymes / K-acetyltransferases, Basic helix-loop-helix proteins	7669	protein-coding gene	gene with protein product		601993			NA	9111344, 8670870	Standard		XM_005251128	NA	Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.2241T>C	8.37:g.71068359A>G		NA	Q14CD2	37	CCDS47872.1																																																																																			NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379696.1		-	ENST00000452400.2	Silent	SNP	8 : 71068359 - 71068359 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	631	117
C5orf38	153571	broad.mit.edu	37	5	2752520	2752520	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2752520G>A	ENST00000397835.4	+	1	142	c.142G>A	c.(142-144)Gcc>Acc	p.A48T	C5orf38_ENST00000457752.2_Missense_Mutation_p.A48T|C5orf38_ENST00000515640.1_Missense_Mutation_p.A48T|C5orf38_ENST00000334000.3_Missense_Mutation_p.A48T|C5orf38_ENST00000505778.1_Missense_Mutation_p.A48T|IRX2_ENST00000502957.1_Intron			Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	48						extracellular region				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		GGTCCACTCCGCCCAGCATGG	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	16	15			NA	NA	5		NA											NA				2752520		2202	4295	6497	SO:0001583	missense			AY249324	CCDS34131.1	5p15.33	2014-06-02			ENSG00000186493	ENSG00000186493	153571	153571			24226	protein-coding gene	gene with protein product	coordinated expression to IRX2, IRX2 neighbor	610522			NA	16515847, 16750006	Standard	NM_178569	XM_005248256	NA	Approved	CEI, IRX2NB	uc003jdc.3	Q86SI9	OTTHUMG00000161741	ENST00000397835.4:c.142G>A	5.37:g.2752520G>A	ENSP00000380935:p.Ala48Thr	NA		37		.	.	.	.	.	.	.	.	.	.	G	0.163	-1.078884	0.01903	.	.	ENSG00000186493	ENST00000457752;ENST00000397835;ENST00000334000;ENST00000505778;ENST00000515640	.	.	.	2.24	-2.6	0.06190	.	.	.	.	.	T	0.13457	0.0326	N	0.08118	0	0.09310	N	1	P	0.42871	0.792	B	0.38225	0.268	T	0.15578	-1.0432	8	0.87932	D	0	.	6.613	0.22761	0.0:0.1469:0.3988:0.4543	.	48	Q86SI9	CEI_HUMAN	T	48	.	ENSP00000334267:A48T	A	+	1	0	C5orf38	2805520	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.198000	0.09505	-1.262000	0.02459	-2.048000	0.00412	GCC	C5orf38-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000382780.3		+	ENST00000397835.4	Missense_Mutation	SNP	5 : 2752520 - 2752520 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	93	22
HIPK2	28996	broad.mit.edu	37	7	139299093	139299093	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139299093C>A	ENST00000406875.3	-	8	2023	c.1929G>T	c.(1927-1929)caG>caT	p.Q643H	HIPK2_ENST00000428878.2_Missense_Mutation_p.Q616H|HIPK2_ENST00000342645.6_Missense_Mutation_p.Q643H	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	643	Interaction with SKI and SMAD1.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGGCACAAATCTGGGCTGTTC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	52	50			NA	NA	7		NA											NA				139299093		1961	4144	6105	SO:0001583	missense			AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393	28996	28996			14402	protein-coding gene	gene with protein product		606868	homeodomain-interacting protein kinase 2		NA	11120354	Standard	NM_022740	NM_001113239	NA	Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.1929G>T	7.37:g.139299093C>A	ENSP00000385571:p.Gln643His	NA	Q75MR7|Q8WWI4|Q9H2Y1	37		.	.	.	.	.	.	.	.	.	.	C	17.32	3.360598	0.61403	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.55760	0.5;0.57;0.61	5.48	3.65	0.41850	.	.	.	.	.	T	0.63319	0.2501	.	.	.	0.45150	D	0.998168	P;D	0.64830	0.855;0.994	P;P	0.62740	0.459;0.906	T	0.59118	-0.7514	8	0.26408	T	0.33	.	11.2298	0.48905	0.0:0.8506:0.0:0.1494	.	643;616	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	H	643;616;643	ENSP00000385571:Q643H;ENSP00000413724:Q616H;ENSP00000343108:Q643H	ENSP00000343108:Q643H	Q	-	3	2	HIPK2	138949633	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.014000	0.57145	0.770000	0.33336	0.563000	0.77884	CAG	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000349430.3		-	ENST00000406875.3	Missense_Mutation	SNP	7 : 139299093 - 139299093 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	112	17
CSPG4	1464	broad.mit.edu	37	15	75969039	75969039	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75969039C>T	ENST00000308508.5	-	10	5913	c.5821G>A	c.(5821-5823)Gcc>Acc	p.A1941T	CTD-2026K11.1_ENST00000569467.1_RNA	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1941	Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ACCTCGATGGCGGATGGTAGG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	47	45			NA	NA	15		NA											NA				75969039		2197	4293	6490	SO:0001583	missense			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546	1464	1464		Proteoglycans / Cell surface : Other	2466	protein-coding gene	gene with protein product	melanoma-associated chondroitin sulfate proteoglycan	601172	chondroitin sulfate proteoglycan 4 (melanoma-associated)		NA	8790396, 16407841	Standard	NM_001897	NM_001897	NA	Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.5821G>A	15.37:g.75969039C>T	ENSP00000312506:p.Ala1941Thr	NA	D3DW77|Q92675	37	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.434673	0.01108	.	.	ENSG00000173546	ENST00000308508	T	0.15372	2.43	5.04	-5.44	0.02624	.	0.966971	0.08531	N	0.932103	T	0.06371	0.0164	N	0.12961	0.28	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.39800	-0.9596	10	0.18710	T	0.47	.	1.8144	0.03097	0.1936:0.3577:0.0923:0.3563	.	1941	Q6UVK1	CSPG4_HUMAN	T	1941	ENSP00000312506:A1941T	ENSP00000312506:A1941T	A	-	1	0	CSPG4	73756094	0.000000	0.05858	0.008000	0.14137	0.038000	0.13279	-1.125000	0.03257	-0.697000	0.05092	-0.228000	0.12330	GCC	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286472.1		-	ENST00000308508.5	Missense_Mutation	SNP	15 : 75969039 - 75969039 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	470	83
A2ML1	144568	broad.mit.edu	37	12	9004397	9004397	+	Missense_Mutation	SNP	C	C	T	rs61741216	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9004397C>T	ENST00000299698.7	+	19	2432	c.2252C>T	c.(2251-2253)gCg>gTg	p.A751V	A2ML1_ENST00000539547.1_Missense_Mutation_p.A260V	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	595						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GGGAAGGAGGCGGTCCACGTC	0.532		NA											C	11	0.01	0.02	0.01	2184	NA	0.9993	,	,	NA	0.0027	NA	NA	NA	0.0054	0.9546	LOWCOV,EXOME	NA	NA	0.0052	SNP								NA				0								C	VAL/ALA	119,4019		3,113,1953	69	70	69		2252	3.3	0.9	12	dbSNP_129	69	1,8405		0,1,4202	yes	missense	A2ML1	NM_144670.3	64	3,114,6155	TT,TC,CC	NA	0.0119,2.8758,0.9566	benign	751/1455	9004397	120,12424	2069	4203	6272	SO:0001583	missense			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535	144568	144568			23336	protein-coding gene	gene with protein product		610627	C3 and PZP-like, alpha-2-macroglobulin domain containing 9	CPAMD9	NA	16298998	Standard	NM_144670	NM_144670	NA	Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.2252C>T	12.37:g.9004397C>T	ENSP00000299698:p.Ala751Val	NA		37	CCDS8596.2	11	0.005036630036630037	9	0.018292682926829267	2	0.0055248618784530384	0	0.0	0	0.0	C	8.032	0.761893	0.15914	0.028758	1.19E-4	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.25912	1.77;1.77;1.77	3.32	3.32	0.38043	Alpha-2-macroglobulin (1);	0.303473	0.23342	N	0.049222	T	0.02727	0.0082	N	0.01188	-0.97	0.22468	N	0.999074	B	0.18610	0.029	B	0.15484	0.013	T	0.18335	-1.0340	10	0.59425	D	0.04	.	9.8835	0.41247	0.2046:0.7954:0.0:0.0	rs61741216	751	A8K2U0	A2ML1_HUMAN	V	751;751;301;260	ENSP00000299698:A751V;ENSP00000443174:A301V;ENSP00000438292:A260V	ENSP00000299698:A751V	A	+	2	0	A2ML1	8895664	0.000000	0.05858	0.880000	0.34516	0.082000	0.17680	-0.027000	0.12371	2.167000	0.68274	0.442000	0.29010	GCG	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250304.3		+	ENST00000299698.7	Missense_Mutation	SNP	12 : 9004397 - 9004397 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	223	32
ASB10	136371	broad.mit.edu	37	7	150873210	150873210	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150873210C>T	ENST00000275838.1	-	4	1539	c.1279G>A	c.(1279-1281)Gtg>Atg	p.V427M	ASB10_ENST00000434669.1_Missense_Mutation_p.V472M|ASB10_ENST00000420175.2_Missense_Mutation_p.V465M|ASB10_ENST00000377867.3_Missense_Mutation_p.V450M|ASB10_ENST00000422024.1_Missense_Mutation_p.V510M			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	465	SOCS box.				intracellular signal transduction			p.V427L(1)|p.V465L(1)		NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TAGTAGAGCACGCCCTCAAAA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(2)											24	26	25			NA	NA	7		NA											NA				150873210		2199	4295	6494	SO:0001583	missense			AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926	136371	136371		Ankyrin repeat domain containing	17185	protein-coding gene	gene with protein product		615054	ankyrin repeat and SOCS box-containing 10, glaucoma 1, open angle, F (adult-onset)	GLC1F	NA	22156576	Standard	NM_080871	NM_080871	NA	Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000275838.1:c.1279G>A	7.37:g.150873210C>T	ENSP00000275838:p.Val427Met	NA	A0AVH0|Q6ZUL6	37	CCDS47749.2	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158322	0.57368	.	.	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	T;T;T;T;T	0.69306	-0.39;-0.32;-0.37;-0.39;-0.35	4.73	1.29	0.21616	.	0.402814	0.25944	N	0.027292	T	0.67154	0.2863	L	0.61218	1.895	0.22317	N	0.999205	D;D;D	0.65815	0.995;0.968;0.987	P;B;B	0.52627	0.704;0.401;0.416	T	0.59359	-0.7469	10	0.72032	D	0.01	-4.0365	6.6198	0.22796	0.0:0.6147:0.1575:0.2278	.	450;465;472	Q8WXI3-3;Q8WXI3;D5MNW9	.;ASB10_HUMAN;.	M	427;450;510;472;465	ENSP00000275838:V427M;ENSP00000367098:V450M;ENSP00000401369:V510M;ENSP00000398247:V472M;ENSP00000391137:V465M	ENSP00000275838:V427M	V	-	1	0	ASB10	150504143	0.009000	0.17119	0.919000	0.36401	0.984000	0.73092	-0.206000	0.09398	0.392000	0.25172	0.655000	0.94253	GTG	ASB10-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347097.3		-	ENST00000275838.1	Missense_Mutation	SNP	7 : 150873210 - 150873210 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	261	43
ZNF337	26152	broad.mit.edu	37	20	25656542	25656542	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25656542A>G	ENST00000376436.1	-	4	1921	c.1382T>C	c.(1381-1383)gTg>gCg	p.V461A	RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.V429A|ZNF337_ENST00000252979.5_Missense_Mutation_p.V461A|RP4-694B14.5_ENST00000439498.1_RNA					zinc finger protein 337	NA										breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTCCTTGCACACAAAAGGCTT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	134	141			NA	NA	20		NA											NA				25656542		2203	4300	6503	SO:0001583	missense				CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684	26152	26152		Zinc fingers, C2H2-type, -	15809	protein-coding gene	gene with protein product					NA		Standard		XM_005260702	NA	Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.1382T>C	20.37:g.25656542A>G	ENSP00000365619:p.Val461Ala	NA		37	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	14.53	2.562285	0.45694	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	T;T;T	0.18174	2.23;2.23;2.23	1.1	1.1	0.20463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09202	0.0227	L	0.31294	0.92	0.09310	N	1	P;P	0.36587	0.559;0.559	B;B	0.28305	0.088;0.088	T	0.26815	-1.0092	9	0.25751	T	0.34	.	6.387	0.21566	1.0:0.0:0.0:0.0	.	429;461	B4DSM2;Q9Y3M9	.;ZN337_HUMAN	A	461;461;461;429	ENSP00000365619:V461A;ENSP00000252979:V461A;ENSP00000442181:V429A	ENSP00000252979:V461A	V	-	2	0	ZNF337	25604542	0.000000	0.05858	0.091000	0.20842	0.768000	0.43524	-0.747000	0.04823	0.742000	0.32697	0.248000	0.18094	GTG	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078454.1		-	ENST00000376436.1	Missense_Mutation	SNP	20 : 25656542 - 25656542 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	882	76
DCAF5	8816	broad.mit.edu	37	14	69521423	69521423	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:69521423A>C	ENST00000341516.5	-	9	2127	c.1980T>G	c.(1978-1980)atT>atG	p.I660M	DCAF5_ENST00000557386.1_Missense_Mutation_p.I659M|DCAF5_ENST00000554215.1_Missense_Mutation_p.I578M|DCAF5_ENST00000556847.1_Missense_Mutation_p.I578M	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	660						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						AAGCTTTATAAATTTTTCGCT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	66	64			NA	NA	14		NA											NA				69521423		2203	4300	6503	SO:0001583	missense			AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17			8816	8816		WD repeat domain containing, DDB1 and CUL4 associated factors	20224	protein-coding gene	gene with protein product		603812	WD repeat domain 22	WDR22	NA	9740667, 9521877	Standard	NM_003861	NM_003861	NA	Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.1980T>G	14.37:g.69521423A>C	ENSP00000341351:p.Ile660Met	NA	B2RN31|O60559|Q8N3V3|Q8N3V5	37	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	A	14.62	2.589626	0.46214	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.76060	-0.99;-0.83;-0.83;-0.43	5.52	3.18	0.36537	.	0.000000	0.64402	D	0.000004	T	0.75817	0.3901	L	0.32530	0.975	0.42590	D	0.993244	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.991	T	0.75099	-0.3437	10	0.62326	D	0.03	-9.6901	6.6175	0.22784	0.6408:0.0:0.3592:0.0	.	659;660	G3V4J7;Q96JK2	.;DCAF5_HUMAN	M	660;578;578;659	ENSP00000341351:I660M;ENSP00000451551:I578M;ENSP00000452052:I578M;ENSP00000451845:I659M	ENSP00000341351:I660M	I	-	3	3	DCAF5	68591176	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.686000	0.37669	0.933000	0.37291	0.459000	0.35465	ATT	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414806.2		-	ENST00000341516.5	Missense_Mutation	SNP	14 : 69521423 - 69521423 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	446	82
PEX1	5189	broad.mit.edu	37	7	92122335	92122335	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92122335G>A	ENST00000428214.1	-	19	2967	c.2968C>T	c.(2968-2970)Ctg>Ttg	p.L990L	PEX1_ENST00000438045.1_Silent_p.L725L|PEX1_ENST00000248633.4_Silent_p.L1047L	NM_001282677.1	NP_001269606.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	1047					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AAAGCTTTCAGATCAGCTCCA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	132	134			NA	NA	7		NA											NA				92122335		2203	4300	6503	SO:0001819	synonymous_variant			AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980	5189	5189		ATPases / AAA-type	8850	protein-coding gene	gene with protein product		602136	peroxisome biogenesis factor 1, Zellweger syndrome 1, Zellweger syndrome	ZWS1, ZWS	NA	9398848	Standard	NM_000466	NM_001282677	NA	Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000428214.1:c.2968C>T	7.37:g.92122335G>A		NA	A4D1G3|A8KA90|Q96S71|Q96S72|Q96S73|Q99994	37	CCDS5627.1																																																																																			PEX1-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342659.1		-	ENST00000428214.1	Silent	SNP	7 : 92122335 - 92122335 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	614	140
FGB	2244	broad.mit.edu	37	4	155487113	155487113	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155487113C>A	ENST00000509493.1	+	2	107				FGB_ENST00000502545.1_3'UTR|FGB_ENST00000302068.4_Missense_Mutation_p.P90T			P02675	FIBB_HUMAN	fibrinogen beta chain	NA					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AAGAAAAGCCCCTGATGCTGG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(106;1133 1613 21870 46110 52656)							NA				0													40	39	39			NA	NA	4		NA											NA				155487113		2203	4300	6503	SO:0001627	intron_variant				CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564	2244	2244		Fibrinogen C domain containing, Endogenous ligands	3662	protein-coding gene	gene with protein product		134830	fibrinogen, B beta polypeptide		NA		Standard	NM_005141	NM_005141	NA	Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000509493.1:c.-167-1632C>A	4.37:g.155487113C>A		NA	B2R7G3|Q3KPF2	37		.	.	.	.	.	.	.	.	.	.	C	25.3	4.624088	0.87560	.	.	ENSG00000171564	ENST00000302068;ENST00000537843	D	0.84800	-1.9	5.21	5.21	0.72293	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (1);	0.100346	0.64402	D	0.000001	D	0.91928	0.7444	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	P	0.62885	0.908	D	0.92645	0.6128	10	0.72032	D	0.01	.	19.1257	0.93382	0.0:1.0:0.0:0.0	.	90	P02675	FIBB_HUMAN	T	90;73	ENSP00000306099:P90T	ENSP00000306099:P90T	P	+	1	0	FGB	155706563	0.998000	0.40836	0.980000	0.43619	0.986000	0.74619	5.391000	0.66266	2.597000	0.87782	0.591000	0.81541	CCT	FGB-010	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000365255.1		+	ENST00000509493.1	Intron	SNP	4 : 155487113 - 155487113 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	209	38
FASN	2194	broad.mit.edu	37	17	80039892	80039892	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80039892G>A	ENST00000579758.1	-	5	685		c.e5+1		FASN_ENST00000306749.2_Silent_p.G2052G			P49327	FAS_HUMAN	fatty acid synthase	NA					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CACCTGGGAGGCCTTCGTGCC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(59;314 1043 11189 28578 32273)							NA				0													50	52	51			NA	NA	17		NA											NA				80039892		2203	4298	6501	SO:0001630	splice_region_variant			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2194	2194	2.3.1.85	Short chain dehydrogenase/reductase superfamily / Atypical members	3594	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 27X, member 1	600212			NA	7835891, 7567999, 19027726	Standard	NM_004104	NM_004104	NA	Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000579758.1:c.168+1C>T	17.37:g.80039892G>A		NA	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	37		.	.	.	.	.	.	.	.	.	.	G	14.53	2.562789	0.45694	.	.	ENSG00000169710	ENST00000545909	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	T	0.66218	0.2767	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69669	-0.5083	5	0.87932	D	0	-30.5223	9.672	0.40017	0.0:0.1316:0.6472:0.2212	.	.	.	.	V	813	.	ENSP00000438053:A813V	A	-	2	0	FASN	77633181	0.998000	0.40836	1.000000	0.80357	0.642000	0.38348	0.189000	0.17037	2.187000	0.69744	0.313000	0.20887	GCC	FASN-007	KNOWN	basic	processed_transcript	NA	protein_coding	OTTHUMT00000442373.1	Intron	-	ENST00000579758.1	Splice_Site	SNP	17 : 80039892 - 80039892 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	260	54
MLN	4295	broad.mit.edu	37	6	33768931	33768931	+	Missense_Mutation	SNP	G	G	A	rs140882390	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33768931G>A	ENST00000430124.2	-	2	75	c.10C>T	c.(10-12)Cgt>Tgt	p.R4C	MLN_ENST00000507738.1_Missense_Mutation_p.R4C|MLN_ENST00000266003.5_Missense_Mutation_p.R4C	NM_001040109.1|NM_001184698.1|NM_002418.2	NP_001035198.1|NP_001171627.1|NP_002409.1	P12872	MOTI_HUMAN	motilin	4					cell-cell signaling|G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	hormone activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)	6						ACAGCCTTACGGGATACCATC	0.577		NA											G	2	9e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	0.0013	NA	NA	9e-04	1	LOWCOV,EXOME	NA	NA	2e-04	SNP								NA				0								G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	79	69	73		10,10,10	-3	0.7	6	dbSNP_134	73	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense	MLN	NM_001040109.1,NM_001184698.1,NM_002418.2	180,180,180	0,3,6500	AA,AG,GG	NA	0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging	4/115,4/109,4/116	33768931	3,13003	2203	4300	6503	SO:0001583	missense				CCDS4786.1, CCDS47412.1, CCDS54993.1	6p21.31	2014-01-30			ENSG00000096395	ENSG00000096395	4295	4295		Endogenous ligands	7141	protein-coding gene	gene with protein product	prepromotilin	158270			NA		Standard		NM_001184698	NA	Approved		uc003off.1	P12872	OTTHUMG00000014536	ENST00000430124.2:c.10C>T	6.37:g.33768931G>A	ENSP00000388825:p.Arg4Cys	NA	Q2M1L2|Q5T975|Q6NSY7	37	CCDS4786.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	12.77	2.039020	0.35989	0.0	3.49E-4	ENSG00000096395	ENST00000430124;ENST00000266003;ENST00000507738	T;T;T	0.49720	0.77;0.77;0.77	5.43	-3.03	0.05429	.	0.976877	0.08403	N	0.951111	T	0.13927	0.0337	L	0.42744	1.35	0.24797	N	0.992721	B;B;B	0.11235	0.002;0.004;0.004	B;B;B	0.06405	0.001;0.002;0.002	T	0.29640	-1.0005	10	0.52906	T	0.07	-1.6005	1.2522	0.01984	0.4245:0.1104:0.2712:0.1939	.	4;4;4	E9PDN2;B7ZLR7;P12872	.;.;MOTI_HUMAN	C	4	ENSP00000388825:R4C;ENSP00000266003:R4C;ENSP00000425467:R4C	ENSP00000266003:R4C	R	-	1	0	MLN	33876909	0.003000	0.15002	0.696000	0.30242	0.777000	0.43975	-0.499000	0.06413	-0.404000	0.07610	0.655000	0.94253	CGT	MLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040211.4		-	ENST00000430124.2	Missense_Mutation	SNP	6 : 33768931 - 33768931 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	478	89
CTBP2	1488	broad.mit.edu	37	10	126681860	126681860	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:126681860A>C	ENST00000309035.6	-	7	2700	c.2570T>G	c.(2569-2571)aTc>aGc	p.I857S	CTBP2_ENST00000494626.2_Missense_Mutation_p.I317S|CTBP2_ENST00000337195.5_Missense_Mutation_p.I317S|CTBP2_ENST00000411419.2_Missense_Mutation_p.I317S|CTBP2_ENST00000334808.6_Missense_Mutation_p.I385S|CTBP2_ENST00000531469.1_Missense_Mutation_p.I317S	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	317					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		AGGAGTGCAGATGAGATTCGG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	33	34			NA	NA	10		NA											NA				126681860		2203	4300	6503	SO:0001583	missense			AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029	1488	1488			2495	protein-coding gene	gene with protein product		602619			NA	9479502, 11864595	Standard	NM_001083914	NM_022802	NA	Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000309035.6:c.2570T>G	10.37:g.126681860A>C	ENSP00000311825:p.Ile857Ser	NA	A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	37	CCDS7644.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.261020	0.80246	.	.	ENSG00000175029	ENST00000337195;ENST00000309035;ENST00000334808;ENST00000531469;ENST00000494626;ENST00000411419	D;D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6	4.72	4.72	0.59763	D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding (1);D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.89643	0.6774	M	0.67517	2.055	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.90883	0.4755	10	0.87932	D	0	.	14.3858	0.66942	1.0:0.0:0.0:0.0	.	317;857;385	P56545;P56545-2;Q5SQP8	CTBP2_HUMAN;.;.	S	317;857;385;317;317;317	ENSP00000338615:I317S;ENSP00000311825:I857S;ENSP00000357816:I385S;ENSP00000434630:I317S;ENSP00000436285:I317S;ENSP00000410474:I317S	ENSP00000311825:I857S	I	-	2	0	CTBP2	126671850	1.000000	0.71417	0.995000	0.50966	0.799000	0.45148	8.729000	0.91490	1.991000	0.58162	0.459000	0.35465	ATC	CTBP2-006	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050905.1		-	ENST00000309035.6	Missense_Mutation	SNP	10 : 126681860 - 126681860 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	162	18
GPR116	221395	broad.mit.edu	37	6	46827246	46827246	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46827246C>T	ENST00000283296.7	-	17	2682	c.2394G>A	c.(2392-2394)acG>acA	p.T798T	GPR116_ENST00000265417.7_Silent_p.T798T|GPR116_ENST00000456426.2_Silent_p.T656T|GPR116_ENST00000545669.1_Silent_p.T227T|GPR116_ENST00000362015.4_Silent_p.T798T	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	798					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TGACATTAACCGTAGAGAGCA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(59;410 1274 8751 36715 50546)							NA				0													34	34	34			NA	NA	6		NA											NA				46827246		2203	4300	6503	SO:0001819	synonymous_variant			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122	221395	221395		-, GPCR / Class B : Orphans, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	19030	protein-coding gene	gene with protein product					NA	12435584	Standard	NM_015234	NM_001098518	NA	Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2394G>A	6.37:g.46827246C>T		NA	O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	37	CCDS4919.1																																																																																			GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040806.2		-	ENST00000283296.7	Silent	SNP	6 : 46827246 - 46827246 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	237	43
RELN	5649	broad.mit.edu	37	7	103138584	103138584	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103138584T>C	ENST00000428762.1	-	54	8942	c.8783A>G	c.(8782-8784)tAt>tGt	p.Y2928C	RELN_ENST00000424685.2_Missense_Mutation_p.Y2928C|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.Y2928C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2928					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)		TCCCCCAAAATAGAGTGCAGT	0.423		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													125	117	120			NA	NA	7		NA											NA				103138584		2203	4300	6503	SO:0001583	missense				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.8783A>G	7.37:g.103138584T>C	ENSP00000392423:p.Tyr2928Cys	NA	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.475388	0.84640	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.25579	1.79;1.79;1.79	5.89	5.89	0.94794	Neuraminidase (2);	0.000000	0.85682	D	0.000000	T	0.49779	0.1577	M	0.64404	1.975	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79108	0.992;0.987	T	0.50389	-0.8834	10	0.87932	D	0	.	16.3158	0.82923	0.0:0.0:0.0:1.0	.	2928;2928	P78509-2;P78509	.;RELN_HUMAN	C	2928;2928;2928;445;2928	ENSP00000392423:Y2928C;ENSP00000345694:Y2928C;ENSP00000388446:Y2928C	ENSP00000345694:Y2928C	Y	-	2	0	RELN	102925820	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.484000	0.81180	2.254000	0.74563	0.533000	0.62120	TAT	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348148.1		-	ENST00000428762.1	Missense_Mutation	SNP	7 : 103138584 - 103138584 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	552	106
JPH1	56704	broad.mit.edu	37	8	75227606	75227606	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:75227606C>T	ENST00000342232.4	-	2	669	c.629G>A	c.(628-630)gGc>gAc	p.G210D		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	210					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CCGGAAGAGGCCGCCCTTCTT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	55	53			NA	NA	8		NA											NA				75227606		2203	4300	6503	SO:0001583	missense			AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369	56704	56704			14201	protein-coding gene	gene with protein product		605266			NA	10891348, 10949023	Standard		XM_005251273	NA	Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.629G>A	8.37:g.75227606C>T	ENSP00000344488:p.Gly210Asp	NA	B2RTZ0	37	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315710	0.81469	.	.	ENSG00000104369	ENST00000342232	T	0.59772	0.24	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.77778	0.4181	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81850	-0.0743	10	0.87932	D	0	.	17.6684	0.88209	0.0:1.0:0.0:0.0	.	210	Q9HDC5	JPH1_HUMAN	D	210	ENSP00000344488:G210D	ENSP00000344488:G210D	G	-	2	0	JPH1	75390161	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	7.285000	0.78660	2.377000	0.81083	0.655000	0.94253	GGC	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379102.1		-	ENST00000342232.4	Missense_Mutation	SNP	8 : 75227606 - 75227606 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	529	95
SYNGR4	23546	broad.mit.edu	37	19	48876806	48876806	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48876806G>A	ENST00000344846.2	+	3	376	c.126G>A	c.(124-126)ctG>ctA	p.L42L	SYNGR4_ENST00000595322.1_5'UTR|SYNGR4_ENST00000601610.1_5'UTR	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	42	MARVEL.					integral to membrane				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		CCTCCCTGCTGACCGACGGCT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	99	103			NA	NA	19		NA											NA				48876806		2203	4300	6503	SO:0001819	synonymous_variant			AJ011733	CCDS12717.1	19q13.3	2008-07-04				ENSG00000105467	23546	23546			11502	protein-coding gene	gene with protein product		608373			NA		Standard		NM_012451	NA	Approved		uc002piz.3	O95473		ENST00000344846.2:c.126G>A	19.37:g.48876806G>A		NA	Q3KP58	37	CCDS12717.1																																																																																			SYNGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465704.1		+	ENST00000344846.2	Silent	SNP	19 : 48876806 - 48876806 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	532	105
IGSF3	3321	broad.mit.edu	37	1	117120136	117120136	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117120136A>G	ENST00000369486.3	-	11	4148	c.3383T>C	c.(3382-3384)tTc>tCc	p.F1128S	IGSF3_ENST00000369483.1_Missense_Mutation_p.F1148S|IGSF3_ENST00000318837.6_Missense_Mutation_p.F1148S	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1128						integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GAAGAAGACGAAGTAGAAGAG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	143	143			NA	NA	1		NA											NA				117120136		2203	4300	6503	SO:0001583	missense			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061	3321	3321		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	5950	protein-coding gene	gene with protein product		603491			NA	9790749	Standard	NM_001542	NM_001007237	NA	Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.3383T>C	1.37:g.117120136A>G	ENSP00000358498:p.Phe1128Ser	NA	A6NMC7	37	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.258429	0.80246	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.04603	3.6;3.59;3.59	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.06600	0.0169	L	0.47716	1.5	0.51233	D	0.999915	D;D	0.71674	0.998;0.998	P;P	0.59115	0.852;0.852	T	0.32798	-0.9893	10	0.40728	T	0.16	-37.6565	12.5239	0.56075	1.0:0.0:0.0:0.0	.	1128;1148	O75054;A6NJZ6	IGSF3_HUMAN;.	S	1128;1148;1148	ENSP00000358498:F1128S;ENSP00000358495:F1148S;ENSP00000321184:F1148S	ENSP00000321184:F1148S	F	-	2	0	IGSF3	116921659	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.403000	0.90208	2.056000	0.61249	0.533000	0.62120	TTC	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059040.1		-	ENST00000369486.3	Missense_Mutation	SNP	1 : 117120136 - 117120136 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	297	52
RANBP3L	202151	broad.mit.edu	37	5	36255604	36255604	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36255604C>A	ENST00000296604.3	-	11	1477	c.992G>T	c.(991-993)aGc>aTc	p.S331I	RANBP3L_ENST00000502994.1_Missense_Mutation_p.S356I	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	331	RanBD1.				intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			ACAGTCAGTGCTTGCTGTGTC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													211	170	184			NA	NA	5		NA											NA				36255604		2203	4299	6502	SO:0001583	missense			BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188	202151	202151			26353	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_145000	NM_145000	NA	Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.992G>T	5.37:g.36255604C>A	ENSP00000296604:p.Ser331Ile	NA	Q96LK2	37	CCDS3918.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641773	0.67244	.	.	ENSG00000164188	ENST00000296604;ENST00000502994	T;T	0.44083	0.93;0.93	5.87	3.89	0.44902	Pleckstrin homology-type (1);Ran binding protein 1 (3);	0.454909	0.24345	N	0.039337	T	0.60196	0.2250	M	0.77313	2.365	0.39277	D	0.964496	D;D	0.61080	0.984;0.989	D;D	0.68943	0.961;0.919	T	0.65483	-0.6157	10	0.87932	D	0	-0.023	8.1223	0.30978	0.0:0.7124:0.1307:0.1569	.	356;331	E9PGP9;Q86VV4	.;RNB3L_HUMAN	I	331;356	ENSP00000296604:S331I;ENSP00000421853:S356I	ENSP00000296604:S331I	S	-	2	0	RANBP3L	36291361	0.827000	0.29292	0.990000	0.47175	0.982000	0.71751	1.325000	0.33724	1.463000	0.47967	0.655000	0.94253	AGC	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253773.2		-	ENST00000296604.3	Missense_Mutation	SNP	5 : 36255604 - 36255604 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	544	69
SYNE1	23345	broad.mit.edu	37	6	152577893	152577893	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152577893C>A	ENST00000367255.5	-	102	19581	c.18980G>T	c.(18979-18981)aGc>aTc	p.S6327I	SYNE1_ENST00000356820.4_Missense_Mutation_p.S851I|SYNE1_ENST00000341594.5_Missense_Mutation_p.S5939I|SYNE1_ENST00000423061.1_Missense_Mutation_p.S6256I|SYNE1_ENST00000448038.1_Missense_Mutation_p.S6256I|SYNE1_ENST00000265368.4_Missense_Mutation_p.S6327I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6327					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTTGGCCTGCTATAAAGCTG	0.433		NA								HNSCC(10;0.0054)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	120	125			NA	NA	6		NA											NA				152577893		2203	4300	6503	SO:0001583	missense			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018	23345	23345			17089	protein-coding gene	gene with protein product	myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1	608441	chromosome 6 open reading frame 98	C6orf98	NA	9872452, 10878022	Standard	NM_182961	NM_182961	NA	Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.18980G>T	6.37:g.152577893C>A	ENSP00000356224:p.Ser6327Ile	NA	O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280586	0.59758	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.56776	0.53;0.52;0.44;0.53;0.65;2.55	5.29	4.42	0.53409	.	0.000000	0.64402	D	0.000001	T	0.57007	0.2024	M	0.67953	2.075	0.53005	D	0.999966	D;D;D	0.61080	0.981;0.981;0.989	P;P;P	0.58391	0.693;0.693;0.838	T	0.64373	-0.6423	10	0.72032	D	0.01	.	14.0829	0.64937	0.0:0.9269:0.0:0.0731	.	6327;6327;6256	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	I	6327;6256;6327;6256;5939;851	ENSP00000356224:S6327I;ENSP00000396024:S6256I;ENSP00000265368:S6327I;ENSP00000390975:S6256I;ENSP00000341887:S5939I;ENSP00000349276:S851I	ENSP00000265368:S6327I	S	-	2	0	SYNE1	152619586	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	1.296000	0.33389	1.354000	0.45846	0.650000	0.86243	AGC	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334755.2		-	ENST00000367255.5	Missense_Mutation	SNP	6 : 152577893 - 152577893 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	532	39
PTPRJ	5795	broad.mit.edu	37	11	48161167	48161167	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48161167A>G	ENST00000418331.2	+	11	2634	c.2282A>G	c.(2281-2283)aAt>aGt	p.N761S		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	761	Fibronectin type-III 8.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GCCTGGAACAATGCGACCCAC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	85	87			NA	NA	11		NA											NA				48161167		2201	4298	6499	SO:0001583	missense			U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177	5795	5795		CD molecules, Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing	9673	protein-coding gene	gene with protein product		600925			NA	7937872, 7994032	Standard		NM_001098503	NA	Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.2282A>G	11.37:g.48161167A>G	ENSP00000400010:p.Asn761Ser	NA	Q15255|Q8NHM2|Q9UDA9	37	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	A	9.835	1.189538	0.21954	.	.	ENSG00000149177	ENST00000418331	T	0.52057	0.68	5.29	1.58	0.23477	Fibronectin, type III (2);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39627	0.1085	M	0.65975	2.015	0.09310	N	0.999999	B	0.25850	0.136	B	0.19391	0.025	T	0.30238	-0.9985	9	0.14252	T	0.57	.	7.4039	0.26979	0.7336:0.0:0.2664:0.0	.	761	Q12913	PTPRJ_HUMAN	S	761	ENSP00000400010:N761S	ENSP00000400010:N761S	N	+	2	0	PTPRJ	48117743	0.002000	0.14202	0.002000	0.10522	0.002000	0.02628	0.839000	0.27586	0.321000	0.23259	-0.256000	0.11100	AAT	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390525.1		+	ENST00000418331.2	Missense_Mutation	SNP	11 : 48161167 - 48161167 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	290	49
NCBP2	22916	broad.mit.edu	37	3	196666195	196666195	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196666195T>G	ENST00000452404.2	-	2	614	c.133A>C	c.(133-135)Agt>Cgt	p.S45R	NCBP2_ENST00000321256.5_Missense_Mutation_p.S63R|NCBP2_ENST00000427641.2_Intron|NCBP2_ENST00000422610.1_5'UTR|NCBP2_ENST00000447325.1_5'UTR			P52298	NCBP2_HUMAN	nuclear cap binding protein subunit 2, 20kDa	63	RRM.				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm	nucleotide binding|protein binding|RNA 7-methylguanosine cap binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)		ATGTCACCACTTTTGCTGAAG	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	100	102			NA	NA	3		NA											NA				196666195		2203	4300	6503	SO:0001583	missense			D59253	CCDS3323.1, CCDS46986.1	3q29	2013-02-12	2002-08-29		ENSG00000114503	ENSG00000114503	22916	22916		RNA binding motif (RRM) containing	7659	protein-coding gene	gene with protein product		605133	nuclear cap binding protein subunit 2, 20kD		NA	7478990, 7651522, 8682299	Standard	NM_007362	NM_001042540	NA	Approved	NIP1, CBP20, Cbc2	uc003fxd.1	P52298	OTTHUMG00000155520	ENST00000452404.2:c.133A>C	3.37:g.196666195T>G	ENSP00000412785:p.Ser45Arg	NA	B2RE91|B4DMK7|Q14924|Q2TS50	37		.	.	.	.	.	.	.	.	.	.	T	19.03	3.747173	0.69418	.	.	ENSG00000114503	ENST00000321256;ENST00000452404	T;T	0.74315	-0.83;-0.83	5.6	4.42	0.53409	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.077733	0.85682	D	0.000000	T	0.79118	0.4392	L	0.38175	1.15	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.70487	0.964;0.953;0.969	T	0.80462	-0.1372	10	0.87932	D	0	.	12.4287	0.55561	0.0:0.0:0.1403:0.8597	.	45;82;63	P52298-2;Q7Z3W9;P52298	.;.;NCBP2_HUMAN	R	63;45	ENSP00000326806:S63R;ENSP00000412785:S45R	ENSP00000326806:S63R	S	-	1	0	NCBP2	198150592	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.863000	0.39459	1.048000	0.40298	0.459000	0.35465	AGT	NCBP2-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000340475.1		-	ENST00000452404.2	Missense_Mutation	SNP	3 : 196666195 - 196666195 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	382	70
OR2B11	127623	broad.mit.edu	37	1	247614372	247614372	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247614372G>T	ENST00000318749.6	-	1	936	c.913C>A	c.(913-915)Ctg>Atg	p.L305M		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGTCTCCTCAGAGCCCCCTTC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													197	211	206			NA	NA	1		NA											NA				247614372		2203	4300	6503	SO:0001583	missense				CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535	127623	127623		GPCR / Class A : Olfactory receptors	31249	protein-coding gene	gene with protein product					NA		Standard	NM_001004492	NM_001004492	NA	Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.913C>A	1.37:g.247614372G>T	ENSP00000325682:p.Leu305Met	NA	B2RP03	37	CCDS31090.1	.	.	.	.	.	.	.	.	.	.	G	5.783	0.328900	0.10956	.	.	ENSG00000177535	ENST00000318749	T	0.46451	0.87	5.09	4.18	0.49190	.	0.000000	0.42053	D	0.000778	T	0.43897	0.1268	L	0.54863	1.705	0.09310	N	1	D	0.58620	0.983	P	0.50791	0.65	T	0.31364	-0.9946	10	0.40728	T	0.16	.	7.9045	0.29755	0.1816:0.0:0.8184:0.0	.	305	Q5JQS5	OR2BB_HUMAN	M	305	ENSP00000325682:L305M	ENSP00000325682:L305M	L	-	1	2	OR2B11	245680995	0.000000	0.05858	0.054000	0.19295	0.015000	0.08874	-0.423000	0.07034	1.523000	0.49018	0.643000	0.83706	CTG	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097620.1		-	ENST00000318749.6	Missense_Mutation	SNP	1 : 247614372 - 247614372 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1959	483
B4GALT5	9334	broad.mit.edu	37	20	48260145	48260145	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:48260145T>C	ENST00000371711.4	-	4	594	c.407A>G	c.(406-408)tAc>tGc	p.Y136C		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	136					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			TTCATGAATGTAATCCATTCC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													203	182	189			NA	NA	20		NA											NA				48260145		2203	4300	6503	SO:0001583	missense			AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470	9334	9334		Beta 4-glycosyltransferases	928	protein-coding gene	gene with protein product	beta4-GalT IV	604016			NA	9597550, 9435216	Standard	NM_004776	NM_004776	NA	Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.407A>G	20.37:g.48260145T>C	ENSP00000360776:p.Tyr136Cys	NA	E1P625|Q2M394|Q9UJQ8	37	CCDS13420.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.525094	0.64747	.	.	ENSG00000158470	ENST00000371711	T	0.21734	1.99	5.46	-3.22	0.05125	.	0.514621	0.24020	N	0.042290	T	0.14657	0.0354	N	0.14661	0.345	0.23150	N	0.998216	P	0.44521	0.837	P	0.52627	0.704	T	0.18808	-1.0325	10	0.40728	T	0.16	0.0085	5.8684	0.18789	0.1051:0.0634:0.4693:0.3622	.	136	O43286	B4GT5_HUMAN	C	136	ENSP00000360776:Y136C	ENSP00000360776:Y136C	Y	-	2	0	B4GALT5	47693552	0.927000	0.31430	0.005000	0.12908	0.929000	0.56500	1.853000	0.39358	-0.974000	0.03550	0.459000	0.35465	TAC	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080543.3		-	ENST00000371711.4	Missense_Mutation	SNP	20 : 48260145 - 48260145 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	478	102
EVX1	2128	broad.mit.edu	37	7	27284774	27284774	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27284774G>A	ENST00000496902.4	+	2	1021	c.535G>A	c.(535-537)Gcc>Acc	p.A179T	EVX1_ENST00000222761.3_Silent_p.A160A|EVX1-AS_ENST00000517726.1_RNA|EVX1_ENST00000535619.1_5'UTR			P49640	EVX1_HUMAN	even-skipped homeobox 1	179						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						GGCGTGCAGCGCCAGTGACCA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	43	42			NA	NA	7		NA											NA				27284774		2203	4300	6503	SO:0001583	missense				CCDS5413.1	7p15.2	2012-03-09	2007-02-15		ENSG00000106038	ENSG00000106038	2128	2128		Homeoboxes / ANTP class : HOXL subclass	3506	protein-coding gene	gene with protein product		142996	eve, even-skipped homeobox homolog 1 (Drosophila)		NA	1684419	Standard		XM_005249640	NA	Approved		uc003szd.1	P49640	OTTHUMG00000023093	ENST00000496902.4:c.535G>A	7.37:g.27284774G>A	ENSP00000419266:p.Ala179Thr	NA	A4D199	37	CCDS5413.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387359	0.82902	.	.	ENSG00000106038	ENST00000496902	D	0.95656	-3.77	5.41	5.41	0.78517	Homeodomain-related (1);Homeodomain-like (1);	0.103751	0.64402	D	0.000004	D	0.93726	0.7995	M	0.64997	1.995	0.80722	D	1	P	0.47350	0.894	B	0.36092	0.217	D	0.94154	0.7408	10	0.52906	T	0.07	-20.9374	19.1941	0.93679	0.0:0.0:1.0:0.0	.	179	P49640	EVX1_HUMAN	T	179	ENSP00000419266:A179T	ENSP00000419266:A179T	A	+	1	0	EVX1	27251299	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.718000	0.68455	2.542000	0.85734	0.462000	0.41574	GCC	EVX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358750.3		+	ENST00000496902.4	Missense_Mutation	SNP	7 : 27284774 - 27284774 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	528	113
LCN8	138307	broad.mit.edu	37	9	139651524	139651524	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139651524C>T	ENST00000371688.3	-	2	416	c.121G>A	c.(121-123)Ggg>Agg	p.G41R	LCN8_ENST00000482893.1_5'UTR	NM_178469.3	NP_848564.2	Q6JVE9	LCN8_HUMAN	lipocalin 8	64					transport	extracellular region	binding			endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		AGGTTACTCCCGCTCAAGGTG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	56	48	50		121	1.6	0	9		50	0,8600		0,0,4300	no	missense	LCN8	NM_178469.3	125	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging	41/153	139651524	1,13005	2203	4300	6503	SO:0001583	missense			AK124003	CCDS35183.1	9q34.3	2011-10-24	2005-01-11		ENSG00000204001	ENSG00000204001	138307	138307		Lipocalins	27038	protein-coding gene	gene with protein product		612902	chromosome 9 open reading frame 137, lipocalin 5	LCN5	NA		Standard	NM_178469	XM_005266058	NA	Approved		uc004cjb.1	Q6JVE9	OTTHUMG00000020942	ENST00000371688.3:c.121G>A	9.37:g.139651524C>T	ENSP00000360753:p.Gly41Arg	NA	A1L4A8|A6NMN9|Q5T5R4	37	CCDS35183.1	.	.	.	.	.	.	.	.	.	.	C	8.375	0.836230	0.16891	2.27E-4	0.0	ENSG00000204001	ENST00000371688	T	0.11930	2.73	3.47	1.57	0.23409	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	.	.	.	.	T	0.07098	0.0180	L	0.33485	1.01	0.09310	N	1	P;B	0.43701	0.815;0.098	B;B	0.30105	0.111;0.023	T	0.30268	-0.9984	8	.	.	.	.	4.9508	0.14013	0.0:0.6622:0.2164:0.1214	.	64;41	Q6JVE9;Q6JVE9-2	LCN8_HUMAN;.	R	41	ENSP00000360753:G41R	.	G	-	1	0	LCN8	138771345	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	0.145000	0.16157	0.453000	0.26858	-0.254000	0.11334	GGG	LCN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055109.1		-	ENST00000371688.3	Missense_Mutation	SNP	9 : 139651524 - 139651524 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	139	30
HLCS	3141	broad.mit.edu	37	21	38132072	38132072	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38132072A>G	ENST00000399120.1	-	10	2981	c.1751T>C	c.(1750-1752)cTg>cCg	p.L584P	HLCS_ENST00000336648.4_Missense_Mutation_p.L584P	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	584					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TGAGTTAACCAGAACTCCGCC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	105	104			NA	NA	21		NA											NA				38132072		2203	4300	6503	SO:0001583	missense				CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	3141	3141	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase), holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)		NA	7842009	Standard		NM_000411	NA	Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.1751T>C	21.37:g.38132072A>G	ENSP00000382071:p.Leu584Pro	NA	D3DSG6|Q99451	37	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.548100	0.86022	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.99282	-5.68;-5.68	5.31	5.31	0.75309	Biotin/lipoate A/B protein ligase (1);	0.000000	0.64402	D	0.000007	D	0.99697	0.9885	H	0.98849	4.35	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97127	0.9815	10	0.87932	D	0	.	15.2626	0.73637	1.0:0.0:0.0:0.0	.	584	P50747	BPL1_HUMAN	P	584	ENSP00000382071:L584P;ENSP00000338387:L584P	ENSP00000338387:L584P	L	-	2	0	HLCS	37053942	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.550000	0.90675	2.002000	0.58637	0.482000	0.46254	CTG	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000194687.2		-	ENST00000399120.1	Missense_Mutation	SNP	21 : 38132072 - 38132072 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	615	58
LPHN2	23266	broad.mit.edu	37	1	82435043	82435043	+	Missense_Mutation	SNP	T	T	C	rs150031756		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:82435043T>C	ENST00000370728.1	+	17	3338	c.2693T>C	c.(2692-2694)cTa>cCa	p.L898P	LPHN2_ENST00000370727.1_Missense_Mutation_p.L898P|LPHN2_ENST00000394879.1_Missense_Mutation_p.L885P|LPHN2_ENST00000370713.1_Missense_Mutation_p.L885P|LPHN2_ENST00000319517.6_Missense_Mutation_p.L885P|LPHN2_ENST00000370730.1_Missense_Mutation_p.L898P|LPHN2_ENST00000359929.3_Missense_Mutation_p.L885P|LPHN2_ENST00000271029.4_Missense_Mutation_p.L898P|LPHN2_ENST00000370721.1_Missense_Mutation_p.L823P|LPHN2_ENST00000370717.2_Missense_Mutation_p.L898P|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000335786.5_Missense_Mutation_p.L898P|LPHN2_ENST00000370715.1_Missense_Mutation_p.L885P|LPHN2_ENST00000370725.1_Missense_Mutation_p.L898P|LPHN2_ENST00000370723.1_Missense_Mutation_p.L885P			O95490	LPHN2_HUMAN	latrophilin 2	898					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.L898P(1)|p.L885P(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TTTATTTTCCTAATAGGCATT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	kidney(2)						T	PRO/LEU	0,4406		0,0,2203	129	126	127		2654	5.1	1	1	dbSNP_134	127	1,8599	1.2+/-3.3	0,1,4299	no	missense	LPHN2	NM_012302.2	98	0,1,6502	CC,CT,TT	NA	0.0116,0.0,0.0077	probably-damaging	885/1404	82435043	1,13005	2203	4300	6503	SO:0001583	missense			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114	23266	23266		-, GPCR / Class B : Orphans	18582	protein-coding gene	gene with protein product		607018	latrophilin 1	LPHH1	NA	10760572	Standard	NM_012302	XR_248786	NA	Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.2693T>C	1.37:g.82435043T>C	ENSP00000359763:p.Leu898Pro	NA	B1ALT8|B1ALT9|B1ALU0|O94882|Q5VX76|Q9UKY5|Q9UKY6	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.7|22.7	4.328568|4.328568	0.81690|0.81690	0.0|0.0	1.16E-4|1.16E-4	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.60672|.	0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17|.	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	0.000000|.	0.64402|.	D|.	0.000007|.	D|.	0.86585|.	0.5968|.	H|H	0.97852|0.97852	4.09|4.09	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.87578|.	0.998;0.994;0.998|.	D|.	0.91704|.	0.5376|.	10|.	0.87932|.	D|.	0|.	.|.	14.8239|14.8239	0.70094|0.70094	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	885;885;885|.	O95490-3;O95490-4;O95490-2|.	.;.;.|.	P|Q	823;898;898;898;898;885;885;885;885;885;898;885;898;898|766	ENSP00000359756:L823P;ENSP00000359763:L898P;ENSP00000359765:L898P;ENSP00000359762:L898P;ENSP00000359760:L898P;ENSP00000359758:L885P;ENSP00000353006:L885P;ENSP00000359750:L885P;ENSP00000359748:L885P;ENSP00000322270:L885P;ENSP00000359752:L898P;ENSP00000378344:L885P;ENSP00000271029:L898P;ENSP00000337306:L898P|.	ENSP00000271029:L898P|.	L|X	+|+	2|1	0|0	LPHN2|LPHN2	82207631|82207631	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	8.040000|8.040000	0.89188|0.89188	1.904000|1.904000	0.55121|0.55121	0.477000|0.477000	0.44152|0.44152	CTA|TAA	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000027188.1		+	ENST00000370728.1	Missense_Mutation	SNP	1 : 82435043 - 82435043 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	486	50
VIT	5212	broad.mit.edu	37	2	37035781	37035781	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37035781G>T	ENST00000404084.1	+	12	1533	c.1367G>T	c.(1366-1368)aGc>aTc	p.S456I	VIT_ENST00000401530.1_Missense_Mutation_p.S483I|VIT_ENST00000389975.3_Missense_Mutation_p.S504I|VIT_ENST00000379242.3_Missense_Mutation_p.S519I|VIT_ENST00000497382.1_Missense_Mutation_p.S173I|VIT_ENST00000379241.3_Missense_Mutation_p.S482I			Q6UXI7	VITRN_HUMAN	vitrin	504	VWFA 1.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GACGGCTCCAGCAGTGTGGGG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	64	65			NA	NA	2		NA											NA				37035781		2203	4300	6503	SO:0001583	missense			AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221	5212	5212			12697	protein-coding gene	gene with protein product					NA		Standard		NM_001177969	NA	Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000404084.1:c.1367G>T	2.37:g.37035781G>T	ENSP00000384154:p.Ser456Ile	NA	A6NKI9|A8K7Y4|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	37		.	.	.	.	.	.	.	.	.	.	G	19.92	3.916504	0.73098	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	5.27	5.27	0.74061	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.89008	0.6593	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.90202	0.4258	10	0.72032	D	0.01	-25.2816	18.9114	0.92487	0.0:0.0:1.0:0.0	.	483;482;504;519	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	I	519;504;173;456;482;483	ENSP00000368544:S519I;ENSP00000374625:S504I;ENSP00000417874:S173I;ENSP00000384154:S456I;ENSP00000368543:S482I;ENSP00000385658:S483I	ENSP00000368543:S482I	S	+	2	0	VIT	36889285	1.000000	0.71417	1.000000	0.80357	0.530000	0.34684	9.827000	0.99397	2.461000	0.83175	0.557000	0.71058	AGC	VIT-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000325453.1		+	ENST00000404084.1	Missense_Mutation	SNP	2 : 37035781 - 37035781 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	478	112
MAGI2	9863	broad.mit.edu	37	7	77649134	77649134	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77649134T>G	ENST00000354212.4	-	22	4119	c.3866A>C	c.(3865-3867)aAa>aCa	p.K1289T	MAGI2_ENST00000419488.1_Missense_Mutation_p.K1275T|MAGI2_ENST00000522391.1_3'UTR	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1289						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GTGTTCCCGTTTGATATCCCA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	98	92			NA	NA	7		NA											NA				77649134		2203	4300	6503	SO:0001583	missense			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391	9863	9863			18957	protein-coding gene	gene with protein product		606382			NA	10681527, 9734811	Standard	NM_012301	XM_005250725	NA	Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.3866A>C	7.37:g.77649134T>G	ENSP00000346151:p.Lys1289Thr	NA	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	37	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	t	12.52	1.964108	0.34659	.	.	ENSG00000187391	ENST00000419488;ENST00000354212	T;T	0.10668	2.85;2.85	4.59	3.45	0.39498	.	.	.	.	.	T	0.05960	0.0155	N	0.14661	0.345	0.80722	D	1	B;B	0.11235	0.004;0.002	B;B	0.16289	0.015;0.007	T	0.31420	-0.9944	9	0.15499	T	0.54	.	9.518	0.39117	0.0:0.0843:0.0:0.9157	.	1275;1289	Q86UL8-2;Q86UL8	.;MAGI2_HUMAN	T	1275;1289	ENSP00000405766:K1275T;ENSP00000346151:K1289T	ENSP00000346151:K1289T	K	-	2	0	MAGI2	77487070	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.347000	0.65998	1.710000	0.51325	0.445000	0.29226	AAA	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253197.3		-	ENST00000354212.4	Missense_Mutation	SNP	7 : 77649134 - 77649134 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	638	124
MYH7B	57644	broad.mit.edu	37	20	33567510	33567510	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33567510G>A	ENST00000262873.7	+	5	463	c.371G>A	c.(370-372)cGc>cAc	p.R124H		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	82	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AACCCGCCTCGCTTCGACTTA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	71	70			NA	NA	20		NA											NA				33567510		2179	4282	6461	SO:0001583	missense			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814	57644	57644		Myosins / Myosin superfamily : Class II	15906	protein-coding gene	gene with protein product		609928	myosin, heavy polypeptide 7B, cardiac muscle, beta		NA	11919279, 15014174	Standard	NM_020884	XM_006723839	NA	Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.371G>A	20.37:g.33567510G>A	ENSP00000262873:p.Arg124His	NA	Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	37	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179720	0.78564	.	.	ENSG00000078814	ENST00000262873	T	0.71817	-0.6	4.31	4.31	0.51392	Myosin head, motor domain (1);	0.000000	0.38436	N	0.001682	T	0.53094	0.1775	L	0.42686	1.345	0.39505	D	0.968266	P	0.47762	0.9	B	0.34093	0.175	T	0.62048	-0.6936	10	0.87932	D	0	.	5.3674	0.16121	0.2536:0.0:0.7464:0.0	.	82	A7E2Y1	MYH7B_HUMAN	H	124	ENSP00000262873:R124H	ENSP00000262873:R124H	R	+	2	0	MYH7B	33031171	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.387000	0.79785	2.383000	0.81215	0.561000	0.74099	CGC	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078833.2		+	ENST00000262873.7	Missense_Mutation	SNP	20 : 33567510 - 33567510 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	553	114
TLR3	7098	broad.mit.edu	37	4	187000170	187000170	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187000170G>A	ENST00000296795.3	+	3	722	c.618G>A	c.(616-618)tcG>tcA	p.S206S		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	NA					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		AGTTGTCATCGAATCAAATTA	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	27	26			NA	NA	4		NA											NA				187000170		2194	4292	6486	SO:0001819	synonymous_variant			U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342	7098	7098		CD molecules	11849	protein-coding gene	gene with protein product		603029			NA	9435236	Standard		NM_003265	NA	Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.618G>A	4.37:g.187000170G>A		NA	Q4VAL2	37	CCDS3846.1																																																																																			TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360313.4		+	ENST00000296795.3	Silent	SNP	4 : 187000170 - 187000170 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	140	26
UBTD1	80019	broad.mit.edu	37	10	99327681	99327681	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99327681G>A	ENST00000370664.3	+	2	417	c.81G>A	c.(79-81)gaG>gaA	p.E27E		NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	27										central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		GACGCAATGAGCCCCTGAAGA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(100;169 2668 32720)							NA				0													60	47	51			NA	NA	10		NA											NA				99327681		2203	4300	6503	SO:0001819	synonymous_variant			BC007331	CCDS7465.1	10q24.2	2005-09-22			ENSG00000165886	ENSG00000165886	80019	80019			25683	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024954	NM_024954	NA	Approved	FLJ11807	uc001knv.1	Q9HAC8	OTTHUMG00000018856	ENST00000370664.3:c.81G>A	10.37:g.99327681G>A		NA	D3DR57|Q53HI3	37	CCDS7465.1																																																																																			UBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049701.1		+	ENST00000370664.3	Silent	SNP	10 : 99327681 - 99327681 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	341	65
KMT2C	58508	broad.mit.edu	37	7	151846148	151846148	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151846148A>C	ENST00000262189.6	-	52	13082	c.12864T>G	c.(12862-12864)gaT>gaG	p.D4288E	KMT2C_ENST00000355193.2_Missense_Mutation_p.D4345E	NM_170606.2	NP_733751.2			lysine (K)-specific methyltransferase 2C	NA											NA						GACAGTGCACATCCAAAGTGG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	61	63			NA	NA	7		NA											NA				151846148		2203	4300	6503	SO:0001583	missense			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609	58508	58508		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	13726	protein-coding gene	gene with protein product		606833	myeloid/lymphoid or mixed-lineage leukemia 3	MLL3	NA	10819331	Standard		XM_005250026	NA	Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.12864T>G	7.37:g.151846148A>C	ENSP00000262189:p.Asp4288Glu	NA		37	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.46|16.46	3.130325|3.130325	0.56721|0.56721	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193;ENST00000424877	.|D;D;D	.|0.89343	.|-1.94;-1.88;-2.5	5.52|5.52	-3.83|-3.83	0.04269|0.04269	.|.	.|0.000000	.|0.45867	.|U	.|0.000334	D|D	0.91102|0.91102	0.7199|0.7199	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.996;1.0;1.0	.|D;D;D	.|0.83275	.|0.952;0.996;0.996	D|D	0.87909|0.87909	0.2696|0.2696	5|10	.|0.30078	.|T	.|0.28	.|.	13.848|13.848	0.63479|0.63479	0.6:0.0:0.4:0.0|0.6:0.0:0.4:0.0	.|.	.|4288;3406;4345	.|Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	.|MLL3_HUMAN;.;.	G|E	1849|4288;4345;905	.|ENSP00000262189:D4288E;ENSP00000347325:D4345E;ENSP00000410411:D905E	.|ENSP00000262189:D4288E	C|D	-|-	1|3	0|2	MLL3|MLL3	151477081|151477081	0.395000|0.395000	0.25254|0.25254	0.711000|0.711000	0.30485|0.30485	0.993000|0.993000	0.82548|0.82548	-0.105000|-0.105000	0.10907|0.10907	-0.731000|-0.731000	0.04862|0.04862	0.528000|0.528000	0.53228|0.53228	TGT|GAT	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318887.3		-	ENST00000262189.6	Missense_Mutation	SNP	7 : 151846148 - 151846148 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	219	18
PIK3C2B	5287	broad.mit.edu	37	1	204409347	204409347	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204409347G>A	ENST00000367187.3	-	23	3908	c.3352C>T	c.(3352-3354)Cgc>Tgc	p.R1118C	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1090C	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1118	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GAGAAGCAGCGGAAGATGACC	0.597		NA											G	4	0.0018	NA	NA	2184	NA	1	,	,	NA	3e-04	0.01	NA	NA	0.0019	0.9882	EXOME	NA	NA	8e-04	SNP								NA				0													123	107	112			NA	NA	1		NA											NA				204409347		2203	4300	6503	SO:0001583	missense			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	5287	5287	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	phosphoinositide-3-kinase, class 2, beta polypeptide		NA	9144573, 9830063	Standard	NM_002646	NM_002646	NA	Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.3352C>T	1.37:g.204409347G>A	ENSP00000356155:p.Arg1118Cys	NA	O95666|Q5SW99	37	CCDS1446.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	G	24.5	4.534673	0.85812	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	D;D	0.82344	-1.6;-1.6	6.06	5.13	0.70059	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.053074	0.64402	D	0.000001	D	0.87977	0.6314	M	0.84433	2.695	0.52099	D	0.999943	D;D	0.89917	1.0;0.999	D;P	0.67900	0.954;0.828	D	0.89881	0.4030	10	0.72032	D	0.01	.	11.8058	0.52155	0.0:0.1332:0.7284:0.1384	.	1090;1118	F5GWN5;O00750	.;P3C2B_HUMAN	C	1118;1090	ENSP00000356155:R1118C;ENSP00000400561:R1090C	ENSP00000356155:R1118C	R	-	1	0	PIK3C2B	202675970	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.842000	0.48230	1.534000	0.49203	0.650000	0.86243	CGC	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087965.1		-	ENST00000367187.3	Missense_Mutation	SNP	1 : 204409347 - 204409347 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	571	77
COL6A2	1292	broad.mit.edu	37	21	47552176	47552176	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47552176G>A	ENST00000300527.4	+	28	2874	c.2770G>A	c.(2770-2772)Gcc>Acc	p.A924T		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	924	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CGTGGTGCACGCCATCAATGC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	26	25			NA	NA	21		NA											NA				47552176		2196	4299	6495	SO:0001583	missense			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173	NA	1292		Collagens	2212	protein-coding gene	gene with protein product		120240			NA		Standard		NM_001849	NA	Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2770G>A	21.37:g.47552176G>A	ENSP00000300527:p.Ala924Thr	NA	Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	37	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713630	0.48517	.	.	ENSG00000142173	ENST00000300527	D	0.82526	-1.62	4.18	4.18	0.49190	von Willebrand factor, type A (3);	0.118916	0.56097	U	0.000030	D	0.83229	0.5209	L	0.57536	1.79	0.80722	D	1	D	0.53619	0.961	P	0.50537	0.643	T	0.80688	-0.1271	10	0.10636	T	0.68	-24.3787	16.5088	0.84279	0.0:0.0:1.0:0.0	.	924	P12110	CO6A2_HUMAN	T	924	ENSP00000300527:A924T	ENSP00000300527:A924T	A	+	1	0	COL6A2	46376604	1.000000	0.71417	0.927000	0.36925	0.019000	0.09904	9.511000	0.98006	1.891000	0.54761	0.313000	0.20887	GCC	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206971.1		+	ENST00000300527.4	Missense_Mutation	SNP	21 : 47552176 - 47552176 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	94	19
GRIN2B	2904	broad.mit.edu	37	12	13720117	13720117	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13720117C>T	ENST00000609686.1	-	12	2649	c.2440G>A	c.(2440-2442)Gac>Aac	p.D814N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	NA					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTGTCAATGTCCAGCTGGCTG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	111	114			NA	NA	12		NA											NA				13720117		2203	4300	6503	SO:0001583	missense				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079		2904	2904		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4586	protein-coding gene	gene with protein product		138252		NMDAR2B	NA	1350383	Standard		NM_000834	NA	Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2440G>A	12.37:g.13720117C>T	ENSP00000477455:p.Asp814Asn	NA	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	37	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	35	5.560709	0.96527	.	.	ENSG00000150086	ENST00000279593	T	0.49720	0.77	5.43	5.43	0.79202	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.65790	0.2725	L	0.48986	1.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67300	-0.5705	10	0.72032	D	0.01	.	19.2468	0.93905	0.0:1.0:0.0:0.0	.	814	Q13224	NMDE2_HUMAN	N	814	ENSP00000279593:D814N	ENSP00000279593:D814N	D	-	1	0	GRIN2B	13611384	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.813000	0.86123	2.554000	0.86153	0.650000	0.86243	GAC	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268014.2		-	ENST00000609686.1	Missense_Mutation	SNP	12 : 13720117 - 13720117 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	478	65
ESD	2098	broad.mit.edu	37	13	47345570	47345570	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:47345570G>T	ENST00000378720.3	-	10	1012	c.830C>A	c.(829-831)gCt>gAt	p.A277D	ESD_ENST00000378697.1_Missense_Mutation_p.A248D	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	277						cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	CAGGTATTTAGCATGATGTCT	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	161	161			NA	NA	13		NA											NA				47345570		2203	4293	6496	SO:0001583	missense			M13450	CCDS9404.1	13q14.1-q14.2	2014-05-13	2010-05-07		ENSG00000139684	ENSG00000139684	2098	2098	3.1.2.12		3465	protein-coding gene	gene with protein product	S-formylglutathione hydrolase	133280	esterase D/formylglutathione hydrolase		NA		Standard		NM_001984	NA	Approved		uc001vbn.3	P10768	OTTHUMG00000016878	ENST00000378720.3:c.830C>A	13.37:g.47345570G>T	ENSP00000367992:p.Ala277Asp	NA	Q5TBU8|Q5TBV0|Q5TBV2|Q9BVJ2	37	CCDS9404.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691844	0.88735	.	.	ENSG00000139684	ENST00000378720;ENST00000378697	T;T	0.32272	1.46;1.46	6.17	6.17	0.99709	.	0.053187	0.85682	D	0.000000	T	0.67069	0.2854	H	0.94698	3.57	0.80722	D	1	P	0.52842	0.956	D	0.72075	0.976	T	0.74714	-0.3572	10	0.87932	D	0	-14.6698	15.3567	0.74431	0.0:0.1387:0.8613:0.0	.	277	P10768	ESTD_HUMAN	D	277;248	ENSP00000367992:A277D;ENSP00000367969:A248D	ENSP00000367969:A248D	A	-	2	0	ESD	46243571	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.597000	0.82733	2.941000	0.99782	0.655000	0.94253	GCT	ESD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044826.1		-	ENST00000378720.3	Missense_Mutation	SNP	13 : 47345570 - 47345570 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	525	60
TTN	7273	broad.mit.edu	37	2	179396844	179396844	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179396844G>A	ENST00000589042.1	-	358	104722	c.104498C>T	c.(104497-104499)gCg>gTg	p.A34833V	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A25768V|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A33192V|TTN_ENST00000359218.5_Missense_Mutation_p.A25893V|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A25960V|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A32265V|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33192							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGTCTAGACGCAGATGAGGA	0.453		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				179396844		1990	4168	6158	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.104498C>T	2.37:g.179396844G>A	ENSP00000467141:p.Ala34833Val	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	G	3.741	-0.053536	0.07362	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58060	0.36;0.6;0.58;0.57	5.55	3.04	0.35103	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.28665	0.0710	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.22800	-1.0206	9	0.87932	D	0	.	7.9077	0.29771	0.6567:0.0:0.3433:0.0	.	25768;25893;25960;33192	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	32265;25768;25960;25893;25765	ENSP00000343764:A32265V;ENSP00000434586:A25768V;ENSP00000340554:A25960V;ENSP00000352154:A25893V	ENSP00000340554:A25960V	A	-	2	0	TTN	179105090	0.860000	0.29831	0.051000	0.19133	0.336000	0.28762	1.809000	0.38922	0.334000	0.23590	-0.355000	0.07637	GCG	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179396844 - 179396844 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	30
PLXND1	23129	broad.mit.edu	37	3	129305525	129305525	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129305525C>T	ENST00000324093.4	-	3	1704	c.1526G>A	c.(1525-1527)cGg>cAg	p.R509Q	PLXND1_ENST00000393239.1_Missense_Mutation_p.R509Q	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	509	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AGTCACCACCCGCCTGCTCAC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(97;366 1484 3738 22084 39045)							NA				0													88	59	69			NA	NA	3		NA											NA				129305525		2202	4297	6499	SO:0001583	missense			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399	23129	23129		Plexins	9107	protein-coding gene	gene with protein product		604282			NA	12412018	Standard	NM_015103	NM_015103	NA	Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.1526G>A	3.37:g.129305525C>T	ENSP00000317128:p.Arg509Gln	NA	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	37	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.589062	0.28357	.	.	ENSG00000004399	ENST00000324093;ENST00000393239;ENST00000505237	T;T;T	0.10477	2.87;2.87;3.59	4.22	0.67	0.17923	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.517808	0.18328	N	0.144595	T	0.04724	0.0128	N	0.12182	0.205	0.09310	N	1	B	0.33940	0.433	B	0.27796	0.083	T	0.38520	-0.9657	10	0.37606	T	0.19	.	7.5175	0.27608	0.0:0.4374:0.0:0.5626	.	509	Q9Y4D7	PLXD1_HUMAN	Q	509;509;72	ENSP00000317128:R509Q;ENSP00000376931:R509Q;ENSP00000426241:R72Q	ENSP00000317128:R509Q	R	-	2	0	PLXND1	130788215	0.033000	0.19621	0.016000	0.15963	0.772000	0.43724	0.364000	0.20325	0.225000	0.20959	0.407000	0.27541	CGG	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356132.4		-	ENST00000324093.4	Missense_Mutation	SNP	3 : 129305525 - 129305525 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	43	9
CWC22	57703	broad.mit.edu	37	2	180842944	180842944	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:180842944A>G	ENST00000410053.3	-	6	853	c.554T>C	c.(553-555)cTt>cCt	p.L185P	CWC22_ENST00000295749.6_Missense_Mutation_p.L185P	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	185	MIF4G.					catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TTCTTGAAGAAGCTCTTGAAT	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	63	63			NA	NA	2		NA											NA				180842944		1796	4061	5857	SO:0001583	missense				CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510	57703	57703			29322	protein-coding gene	gene with protein product	functional spliceosome-associated protein b	615186	CWC22 spliceosome-associated protein homolog (S. cerevisiae)		NA	9136012, 23236153	Standard	NM_020943	NM_020943	NA	Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.554T>C	2.37:g.180842944A>G	ENSP00000387006:p.Leu185Pro	NA	Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	37	CCDS46465.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.410899	0.83340	.	.	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	T;T;T	0.34667	1.35;1.35;1.35	5.87	5.87	0.94306	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.060030	0.64402	D	0.000002	T	0.71676	0.3368	H	0.95679	3.705	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81057	-0.1105	10	0.87932	D	0	-11.607	15.4442	0.75216	1.0:0.0:0.0:0.0	.	185	Q9HCG8	CWC22_HUMAN	P	185	ENSP00000387006:L185P;ENSP00000295749:L185P;ENSP00000384159:L185P	ENSP00000295749:L185P	L	-	2	0	CWC22	180551189	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.051000	0.93849	2.239000	0.73571	0.528000	0.53228	CTT	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334537.1		-	ENST00000410053.3	Missense_Mutation	SNP	2 : 180842944 - 180842944 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	128	31
FCRL5	83416	broad.mit.edu	37	1	157494130	157494130	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157494130G>T	ENST00000361835.3	-	10	2335	c.2178C>A	c.(2176-2178)tcC>tcA	p.S726S	FCRL5_ENST00000368190.3_Silent_p.S726S|FCRL5_ENST00000368191.3_Silent_p.S641S|FCRL5_ENST00000356953.4_Silent_p.S726S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	726	Ig-like C2-type 7.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CTGCCTCACAGGAGTAGATTC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	68	66			NA	NA	1		NA											NA				157494130		2203	4300	6503	SO:0001819	synonymous_variant			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297	83416	83416		CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	18508	protein-coding gene	gene with protein product		605877			NA	11027651, 11290337	Standard	NM_031281	NM_031281	NA	Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2178C>A	1.37:g.157494130G>T		NA	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	37	CCDS1165.1																																																																																			FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046263.1		-	ENST00000361835.3	Silent	SNP	1 : 157494130 - 157494130 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	518	148
ETS2	2114	broad.mit.edu	37	21	40191548	40191548	+	Silent	SNP	C	C	T	rs113417859	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40191548C>T	ENST00000360214.3	+	9	1393	c.933C>T	c.(931-933)ttC>ttT	p.F311F	ETS2_ENST00000360938.3_Silent_p.F311F	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	311					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TTCCTTCCTTCGAGAGCTTCG	0.552		NA											C	3	0.0014	0.01	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0014	0.9844	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0								C		0,4406		0,0,2203	90	76	81		933	-4.4	0.9	21	dbSNP_132	81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ETS2	NM_005239.4		0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077		311/470	40191548	1,13005	2203	4300	6503	SO:0001819	synonymous_variant				CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557	2114	2114			3489	protein-coding gene	gene with protein product		164740	v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)		NA	17986575	Standard		NM_001256295	NA	Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.933C>T	21.37:g.40191548C>T		NA	A6NM68|D3DSH6|Q53Y89	37	CCDS13659.1																																																																																			ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207544.1		+	ENST00000360214.3	Silent	SNP	21 : 40191548 - 40191548 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	170	17
NHLRC1	378884	broad.mit.edu	37	6	18122317	18122317	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18122317A>C	ENST00000340650.3	-	1	534	c.521T>G	c.(520-522)aTt>aGt	p.I174S		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing E3 ubiquitin protein ligase 1	174					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			AGGGTACCTAATGTCTTGGGC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	111	109			NA	NA	6		NA											NA				18122317		2203	4300	6503	SO:0001583	missense			AY324849	CCDS4542.1	6p22.3	2014-01-28	2013-12-12		ENSG00000187566	ENSG00000187566	378884	378884			21576	protein-coding gene	gene with protein product	epilepsy, progressive myoclonus type 2B	608072	NHL repeat containing 1		NA	12958597	Standard		NM_198586	NA	Approved	bA204B7.2, EPM2B, malin	uc003ncl.1	Q6VVB1	OTTHUMG00000014315	ENST00000340650.3:c.521T>G	6.37:g.18122317A>C	ENSP00000345464:p.Ile174Ser	NA	Q3SYB1|Q5VUK7|Q6IMH1	37	CCDS4542.1	.	.	.	.	.	.	.	.	.	.	A	12.57	1.977934	0.34942	.	.	ENSG00000187566	ENST00000340650	D	0.89939	-2.59	4.99	3.8	0.43715	Six-bladed beta-propeller, TolB-like (1);	0.376634	0.25402	N	0.030924	T	0.76147	0.3947	L	0.43152	1.355	0.34863	D	0.742812	B	0.34015	0.435	B	0.32624	0.149	T	0.74290	-0.3713	10	0.72032	D	0.01	-2.1043	10.6441	0.45610	0.8561:0.0:0.0:0.1438	.	174	Q6VVB1	NHLC1_HUMAN	S	174	ENSP00000345464:I174S	ENSP00000345464:I174S	I	-	2	0	NHLRC1	18230296	0.997000	0.39634	0.862000	0.33874	0.540000	0.34992	8.407000	0.90218	0.704000	0.31869	0.533000	0.62120	ATT	NHLRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039958.1		-	ENST00000340650.3	Missense_Mutation	SNP	6 : 18122317 - 18122317 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	451	82
SLC39A4	55630	broad.mit.edu	37	8	145641572	145641572	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145641572A>G	ENST00000276833.5	-	1	324	c.21T>C	c.(19-21)ctT>ctC	p.L7L	SLC39A4_ENST00000301305.3_Intron	NM_001280557.1|NM_017767.2	NP_001267486.1|NP_060237	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	0						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			TTTCCCTTTCAAGTCCAACAA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	36	34			NA	NA	8		NA											NA				145641572		2009	4165	6174	SO:0001819	synonymous_variant			AK025537	CCDS6424.1, CCDS43782.1	8q24.3	2013-05-22			ENSG00000147804	ENSG00000147804	55630	55630		Solute carriers	17129	protein-coding gene	gene with protein product		607059	acrodermatitis enteropathica, zinc-deficiency type	AEZ	NA	12801924, 12659941, 14709598	Standard		NM_017767	NA	Approved	ZIP4, AWMS2	uc003zcq.3	Q6P5W5		ENST00000276833.5:c.21T>C	8.37:g.145641572A>G		NA	Q7L5S5|Q9H6T8|Q9NXC4	37	CCDS43782.1																																																																																			SLC39A4-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382687.2		-	ENST00000276833.5	Silent	SNP	8 : 145641572 - 145641572 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	63	8
LAPTM5	7805	broad.mit.edu	37	1	31211857	31211857	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31211857C>A	ENST00000294507.3	-	5	514	c.440G>T	c.(439-441)aGc>aTc	p.S147I		NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	147					transport	integral to plasma membrane|lysosomal membrane				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		GGTCAGGATGCTCAGGCAGAA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	59	63			NA	NA	1		NA											NA				31211857		2203	4300	6503	SO:0001583	missense			U51240	CCDS337.1	1p34	2009-07-20	2009-07-20		ENSG00000162511	ENSG00000162511	7805	7805			29612	protein-coding gene	gene with protein product		601476	lysosomal multispanning membrane protein 5		NA	8661146, 12527926	Standard	NM_006762	NM_006762	NA	Approved		uc001bsc.2	Q13571	OTTHUMG00000003707	ENST00000294507.3:c.440G>T	1.37:g.31211857C>A	ENSP00000294507:p.Ser147Ile	NA	Q13240|Q14698|Q3KP54	37	CCDS337.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119689	0.77323	.	.	ENSG00000162511	ENST00000294507;ENST00000424259	T	0.58940	0.3	5.73	5.73	0.89815	.	0.053362	0.85682	D	0.000000	T	0.74906	0.3778	M	0.72118	2.19	0.42479	D	0.99285	D	0.89917	1.0	D	0.81914	0.995	T	0.77360	-0.2617	10	0.87932	D	0	-35.521	15.3854	0.74695	0.0:1.0:0.0:0.0	.	147	Q13571	LAPM5_HUMAN	I	147	ENSP00000294507:S147I	ENSP00000294507:S147I	S	-	2	0	LAPTM5	30984444	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	4.270000	0.58896	2.701000	0.92244	0.655000	0.94253	AGC	LAPTM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000010463.1		-	ENST00000294507.3	Missense_Mutation	SNP	1 : 31211857 - 31211857 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	40	6
ZNF480	147657	broad.mit.edu	37	19	52825188	52825188	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52825188A>C	ENST00000490272.1	+	0	493				ZNF480_ENST00000334564.7_Missense_Mutation_p.K186Q|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Missense_Mutation_p.K152Q|ZNF480_ENST00000595962.1_Missense_Mutation_p.K229Q			Q8WV37	ZN480_HUMAN	zinc finger protein 480	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TACTGTAGAGAAACCTTACAA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	56	56			NA	NA	19		NA											NA				52825188		2203	4300	6503	SO:0001624	3_prime_UTR_variant			AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464	147657	147657		Zinc fingers, C2H2-type, -	23305	protein-coding gene	gene with protein product		613910			NA	15219843	Standard	NM_144684	XM_005258525	NA	Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000490272.1:c.*243A>C	19.37:g.52825188A>C		NA	Q5JPG9|Q6P0Q4|Q8N1M5	37		.	.	.	.	.	.	.	.	.	.	A	12.15	1.852413	0.32699	.	.	ENSG00000198464	ENST00000468240;ENST00000334564;ENST00000335090	T;T;T	0.27104	1.69;1.69;1.69	1.99	1.99	0.26369	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43344	0.1243	M	0.88031	2.925	0.23542	N	0.997456	D;P	0.57257	0.979;0.638	P;B	0.51777	0.679;0.15	T	0.32214	-0.9915	9	0.87932	D	0	.	7.566	0.27879	1.0:0.0:0.0:0.0	.	186;229	F8WEZ9;Q8WV37	.;ZN480_HUMAN	Q	229;186;152	ENSP00000417424:K229Q;ENSP00000334164:K186Q;ENSP00000335670:K152Q	ENSP00000334164:K186Q	K	+	1	0	ZNF480	57517000	0.333000	0.24731	0.044000	0.18714	0.055000	0.15305	2.755000	0.47540	0.894000	0.36317	0.383000	0.25322	AAA	ZNF480-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000349002.1		+	ENST00000490272.1	3'UTR	SNP	19 : 52825188 - 52825188 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	293	65
GRM6	2916	broad.mit.edu	37	5	178413684	178413684	+	Missense_Mutation	SNP	G	G	T	rs143491269	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178413684G>T	ENST00000517717.1	-	9	1609	c.1571C>A	c.(1570-1572)cCg>cAg	p.P524Q	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.P524Q			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	524					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CCGCTCCCCCGGCCCGCAGGG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	31	31			NA	NA	5		NA											NA				178413684		2201	4297	6498	SO:0001583	missense			U82083	CCDS4442.1	5q35	2014-01-28					2916	2916		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4598	protein-coding gene	gene with protein product		604096			NA	9215706	Standard		NM_000843	NA	Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1571C>A	5.37:g.178413684G>T	ENSP00000430767:p.Pro524Gln	NA		37	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.811775	0.70797	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.90504	-2.68;-2.68	4.63	4.63	0.57726	GPCR, family 3, nine cysteines domain (1);	.	.	.	.	D	0.95847	0.8648	M	0.90309	3.105	0.47245	D	0.999363	D;P	0.89917	1.0;0.463	D;B	0.80764	0.994;0.339	D	0.96038	0.9022	9	0.49607	T	0.09	.	15.3541	0.74415	0.0:0.0:1.0:0.0	.	680;524	E7EX65;O15303	.;GRM6_HUMAN	Q	680;524;524	ENSP00000231188:P524Q;ENSP00000430767:P524Q	ENSP00000231188:P524Q	P	-	2	0	GRM6	178346290	1.000000	0.71417	0.865000	0.33974	0.791000	0.44710	7.825000	0.86693	2.281000	0.76405	0.462000	0.41574	CCG	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253474.2		-	ENST00000517717.1	Missense_Mutation	SNP	5 : 178413684 - 178413684 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	382	91
WDR64	128025	broad.mit.edu	37	1	241959665	241959665	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241959665G>A	ENST00000366552.2	+	26	3362	c.3155G>A	c.(3154-3156)cGt>cAt	p.R1052H	WDR64_ENST00000437684.2_Missense_Mutation_p.R885H	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	1052										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CATGTTCAACGTGAAAAAGTA	0.378		NA											G	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	1	LOWCOV	NA	NA	4e-04	SNP								NA				0													82	79	80			NA	NA	1		NA											NA				241959665		2203	4300	6503	SO:0001583	missense			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843	128025	128025		WD repeat domain containing	26570	protein-coding gene	gene with protein product					NA		Standard	NM_144625	NM_144625	NA	Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.3155G>A	1.37:g.241959665G>A	ENSP00000355510:p.Arg1052His	NA	B1ANT0|Q7Z573|Q96LY9	37		1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	0.006|0.006	-2.099010|-2.099010	0.00360|0.00360	.|.	.|.	ENSG00000162843|ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635|ENST00000425826	T;T;T|.	0.38240|.	1.37;1.15;1.15|.	4.1|4.1	0.168|0.168	0.15012|0.15012	.|.	0.511841|.	0.17962|.	N|.	0.156140|.	T|T	0.07728|0.07728	0.0194|0.0194	N|N	0.01267|0.01267	-0.92|-0.92	0.20764|0.20764	N|N	0.999859|0.999859	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.31530|0.31530	-0.9940|-0.9940	10|5	0.06099|.	T|.	0.92|.	-0.5393|-0.5393	1.1911|1.1911	0.01865|0.01865	0.5203:0.1903:0.1059:0.1835|0.5203:0.1903:0.1059:0.1835	.|.	1052;605|.	B1ANS9;D1MPS4|.	WDR64_HUMAN;.|.	H|M	1052;885;656|531	ENSP00000355510:R1052H;ENSP00000402446:R885H;ENSP00000406656:R656H|.	ENSP00000355510:R1052H|.	R|V	+|+	2|1	0|0	WDR64|WDR64	240026288|240026288	0.998000|0.998000	0.40836|0.40836	0.928000|0.928000	0.36995|0.36995	0.041000|0.041000	0.13682|0.13682	2.370000|2.370000	0.44240|0.44240	-0.069000|-0.069000	0.12931|0.12931	-0.339000|-0.339000	0.08088|0.08088	CGT|GTG	WDR64-201	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding			+	ENST00000366552.2	Missense_Mutation	SNP	1 : 241959665 - 241959665 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	301	54
PTPRK	5796	broad.mit.edu	37	6	128505667	128505667	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:128505667C>T	ENST00000368226.4	-	7	1387	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	PTPRK_ENST00000368213.5_Missense_Mutation_p.E358K|PTPRK_ENST00000532331.1_Missense_Mutation_p.E358K|PTPRK_ENST00000368210.3_Missense_Mutation_p.E358K|PTPRK_ENST00000368207.3_Missense_Mutation_p.E358K|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368215.3_Missense_Mutation_p.E358K|PTPRK_ENST00000368227.3_Missense_Mutation_p.E358K	NM_002844.3	NP_002835.2	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	358	Fibronectin type-III 1.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATCTCATATTCGGTATCTGGA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	170	155	160		1072,1072	5.5	1	6		160	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PTPRK	NM_001135648.1,NM_002844.3	56,56	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging	358/1447,358/1441	128505667	1,13005	2203	4300	6503	SO:0001583	missense			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894	5796	5796		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	9674	protein-coding gene	gene with protein product		602545			NA	9047348, 8663237	Standard		NM_002844	NA	Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368226.4:c.1072G>A	6.37:g.128505667C>T	ENSP00000357209:p.Glu358Lys	NA	Q14763|Q5TG10|Q5TG11	37	CCDS5137.1	.	.	.	.	.	.	.	.	.	.	C	31	5.063200	0.93898	0.0	1.16E-4	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	T;T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	5.49	5.49	0.81192	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86948	0.6056	M	0.73217	2.22	0.58432	D	0.999991	D;D;D;D;P;P	0.69078	0.985;0.997;0.996;0.997;0.949;0.937	P;D;P;P;P;B	0.63957	0.642;0.92;0.869;0.875;0.489;0.356	D	0.87058	0.2151	10	0.56958	D	0.05	.	19.3758	0.94508	0.0:1.0:0.0:0.0	.	358;358;358;215;358;358	B4DHC3;B7ZMG0;Q15262-3;F5GWP2;Q15262;Q15262-2	.;.;.;.;PTPRK_HUMAN;.	K	358;358;358;358;358;358;358;215	ENSP00000357209:E358K;ENSP00000357210:E358K;ENSP00000432973:E358K;ENSP00000357196:E358K;ENSP00000357193:E358K;ENSP00000357198:E358K;ENSP00000357190:E358K	ENSP00000357190:E358K	E	-	1	0	PTPRK	128547360	1.000000	0.71417	0.962000	0.40283	0.945000	0.59286	5.999000	0.70665	2.577000	0.86979	0.655000	0.94253	GAA	PTPRK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042161.2		-	ENST00000368226.4	Missense_Mutation	SNP	6 : 128505667 - 128505667 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	783	136
NANOS3	342977	broad.mit.edu	37	19	13988311	13988311	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13988311C>T	ENST00000591727.1	+	2	132				NANOS3_ENST00000397555.2_Silent_p.N64N|NANOS3_ENST00000339133.5_Silent_p.N83N			P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	NA					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding			breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GCAAACACAACGGCGAGTCCC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	55	52			NA	NA	19		NA											NA				13988311		2191	4288	6479	SO:0001627	intron_variant			BM702754	CCDS42511.1	19p13.13	2003-12-01				ENSG00000187556	342977	342977			22048	protein-coding gene	gene with protein product		608229			NA		Standard	XM_292819	NM_001098622	NA	Approved	NANOS1L, NOS3	uc002mxj.4	P60323		ENST00000591727.1:c.133-2945C>T	19.37:g.13988311C>T		NA	Q495E5	37																																																																																				NANOS3-002	KNOWN	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000457943.1		+	ENST00000591727.1	Intron	SNP	19 : 13988311 - 13988311 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	293	52
PTPN21	11099	broad.mit.edu	37	14	88983472	88983472	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88983472A>G	ENST00000556564.1	-	3	598	c.314T>C	c.(313-315)gTg>gCg	p.V105A	PTPN21_ENST00000328736.3_Missense_Mutation_p.V105A|PTPN21_ENST00000554628.1_5'UTR	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	105	FERM.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AACTGAAGGCACATAAAACAC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	102	106			NA	NA	14		NA											NA				88983472		2203	4300	6503	SO:0001583	missense			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778	11099	11099		Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor	9651	protein-coding gene	gene with protein product		603271			NA	7519780	Standard		NM_007039	NA	Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.314T>C	14.37:g.88983472A>G	ENSP00000452414:p.Val105Ala	NA		37	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	A	17.55	3.417638	0.62622	.	.	ENSG00000070778	ENST00000328736;ENST00000556564;ENST00000555243	T;T;T	0.78364	-1.17;-1.17;-1.17	5.77	5.77	0.91146	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);FERM conserved site (1);	0.076746	0.51477	D	0.000088	T	0.80253	0.4589	L	0.39633	1.23	0.44627	D	0.997602	P;P	0.51537	0.855;0.946	P;P	0.54060	0.615;0.741	T	0.82333	-0.0509	10	0.72032	D	0.01	.	16.1024	0.81184	1.0:0.0:0.0:0.0	.	105;105	G3V3S6;Q16825	.;PTN21_HUMAN	A	105	ENSP00000330276:V105A;ENSP00000452414:V105A;ENSP00000451401:V105A	ENSP00000330276:V105A	V	-	2	0	PTPN21	88053225	1.000000	0.71417	0.999000	0.59377	0.147000	0.21601	9.339000	0.96797	2.200000	0.70718	0.459000	0.35465	GTG	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410303.1		-	ENST00000556564.1	Missense_Mutation	SNP	14 : 88983472 - 88983472 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	389	70
DNAI1	27019	broad.mit.edu	37	9	34500719	34500719	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34500719G>T	ENST00000242317.4	+	11	1072		c.e11-1			NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	NA					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GTGTGTTTAAGATTTTAAGTA	0.522		NA							Kartagener syndrome		OREG0019152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	54	55			NA	NA	9		NA											NA				34500719		2203	4300	6503	SO:0001630	splice_region_variant	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735	27019	27019		Axonemal dyneins, WD repeat domain containing	2954	protein-coding gene	gene with protein product		604366	dynein, axonemal, intermediate polypeptide 1		NA	10577904, 21953912	Standard		NM_012144	NA	Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.902-1G>T	9.37:g.34500719G>T		848	Q5T8G7|Q8NHQ7|Q9UEZ8	37	CCDS6557.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201942	0.79127	.	.	ENSG00000122735	ENST00000242317	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4324	0.83853	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAI1	34490719	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	8.857000	0.92250	2.539000	0.85634	0.563000	0.77884	.	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052192.1	Intron	+	ENST00000242317.4	Splice_Site	SNP	9 : 34500719 - 34500719 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	128	16
DNAH12	201625	broad.mit.edu	37	3	57493472	57493472	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57493472T>G	ENST00000389536.4	-	8	975	c.795A>C	c.(793-795)ccA>ccC	p.P265P	DNAH12_ENST00000351747.2_Silent_p.P265P|DNAH12_ENST00000311202.6_Silent_p.P265P			Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	265	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TTATAACCTTTGGATACCATG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	154	157			NA	NA	3		NA											NA				57493472		2203	4299	6502	SO:0001819	synonymous_variant			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844	201625	201625		Axonemal dyneins	2943	protein-coding gene	gene with protein product		603340	dynein, axonemal, heavy polypeptide 12, dynein heavy chain domain 2, dynein heavy domain 2, dynein, axonemal, heavy chain 12-like, dynein, axonemal, heavy chain 7-like	DNHD2, DNAH12L, DNAH7L	NA	8812413, 8666668	Standard	NM_178504	NM_198564	NA	Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000389536.4:c.795A>C	3.37:g.57493472T>G		NA	A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	37																																																																																				DNAH12-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000351433.1		-	ENST00000389536.4	Silent	SNP	3 : 57493472 - 57493472 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	458	98
RPAP2	79871	broad.mit.edu	37	1	92846382	92846382	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92846382A>G	ENST00000610020.1	+	12	1899	c.1790A>G	c.(1789-1791)gAc>gGc	p.D597G		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	NA						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AAAAATGAAGACCTTGAAAGT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	119	119			NA	NA	1		NA											NA				92846382		2203	4300	6503	SO:0001583	missense			AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484	79871	79871			25791	protein-coding gene	gene with protein product		611476	chromosome 1 open reading frame 82	C1orf82	NA	17643375	Standard	NM_024813	NM_024813	NA	Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.1790A>G	1.37:g.92846382A>G	ENSP00000476948:p.Asp597Gly	NA	Q49AS7|Q9H8Y2	37	CCDS740.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.928953	0.52759	.	.	ENSG00000122484	ENST00000370343	.	.	.	5.74	5.74	0.90152	.	0.048575	0.85682	D	0.000000	T	0.57681	0.2070	L	0.32530	0.975	0.37678	D	0.923373	D	0.89917	1.0	D	0.87578	0.998	T	0.64984	-0.6278	8	0.56958	D	0.05	-7.6521	13.5778	0.61885	1.0:0.0:0.0:0.0	.	597	Q8IXW5	RPAP2_HUMAN	G	597	.	ENSP00000359368:D597G	D	+	2	0	RPAP2	92618970	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	5.137000	0.64789	2.191000	0.70037	0.528000	0.53228	GAC	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000028368.2		+	ENST00000610020.1	Missense_Mutation	SNP	1 : 92846382 - 92846382 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	376	38
CCDC62	84660	broad.mit.edu	37	12	123297931	123297931	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123297931A>G	ENST00000253079.6	+	11	2310	c.1966A>G	c.(1966-1968)Atc>Gtc	p.I656V	CCDC62_ENST00000392440.2_Missense_Mutation_p.I417V|CCDC62_ENST00000537566.1_Missense_Mutation_p.I417V|CCDC62_ENST00000392441.4_Missense_Mutation_p.I656V	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	656						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		ACTGCTGCCCATCAGCCATGA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	95	100			NA	NA	12		NA											NA				123297931		2203	4300	6503	SO:0001583	missense				CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783	84660	84660			30723	protein-coding gene	gene with protein product	cancer/testis antigen 109	613481			NA	18563714, 19126643	Standard	NM_032573	NM_201435	NA	Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.1966A>G	12.37:g.123297931A>G	ENSP00000253079:p.Ile656Val	NA	A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	37	CCDS9238.1	.	.	.	.	.	.	.	.	.	.	A	12.21	1.870432	0.33069	.	.	ENSG00000130783	ENST00000253079;ENST00000392441;ENST00000537566;ENST00000392440	T;T;T;T	0.45668	1.47;1.47;0.89;0.89	5.56	-2.86	0.05717	.	0.529195	0.17425	N	0.174662	T	0.26448	0.0646	L	0.31926	0.97	0.25412	N	0.988349	B;B;B	0.15930	0.01;0.015;0.008	B;B;B	0.19946	0.02;0.027;0.019	T	0.16660	-1.0395	10	0.38643	T	0.18	-2.8178	8.1127	0.30924	0.3161:0.5281:0.1558:0.0	.	656;417;656	Q6P9F0-2;Q6P9F0-3;Q6P9F0	.;.;CCD62_HUMAN	V	656;656;417;417	ENSP00000253079:I656V;ENSP00000376236:I656V;ENSP00000445045:I417V;ENSP00000376235:I417V	ENSP00000253079:I656V	I	+	1	0	CCDC62	121863884	0.909000	0.30893	0.904000	0.35570	0.697000	0.40408	0.254000	0.18314	-0.376000	0.07943	0.528000	0.53228	ATC	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400930.1		+	ENST00000253079.6	Missense_Mutation	SNP	12 : 123297931 - 123297931 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	65
SRPR	6734	broad.mit.edu	37	11	126133894	126133894	+	Missense_Mutation	SNP	C	C	T	rs149620514	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126133894C>T	ENST00000532259.1	-	13	1927	c.1750G>A	c.(1750-1752)Gtc>Atc	p.V584I	SRPR_ENST00000332118.6_Missense_Mutation_p.V612I	NM_001177842.1	NP_001171313.1	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	612					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CCCACAAAGACGATGGGTTTG	0.537		NA											C	2	9e-04	NA	0.0028	2184	0.0017	0.9998	,	,	NA	4e-04	NA	NA	NA	0.001	0.9203	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0													147	133	138			NA	NA	11		NA											NA				126133894		2201	4299	6500	SO:0001583	missense			BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934	6734	6734			11307	protein-coding gene	gene with protein product		182180	signal recognition particle receptor ('docking protein')		NA	3340536, 1312991	Standard	NM_003139	NM_001177842	NA	Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000532259.1:c.1750G>A	11.37:g.126133894C>T	ENSP00000435508:p.Val584Ile	NA	A6NIB3|B2R5Z8|Q9BVJ4	37	CCDS53722.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	C	26.2	4.712081	0.89112	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	4.89	4.89	0.63831	Signal recognition particle, SRP54 subunit, GTPase (3);	0.000000	0.85682	D	0.000000	T	0.60327	0.2260	L	0.41124	1.26	0.80722	D	1	D;P	0.56521	0.976;0.951	P;P	0.51453	0.67;0.67	T	0.59600	-0.7424	9	0.38643	T	0.18	-17.3446	18.2376	0.89954	0.0:1.0:0.0:0.0	.	584;612	E9PJS4;P08240	.;SRPR_HUMAN	I	612;584	.	ENSP00000328023:V612I	V	-	1	0	SRPR	125639104	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.631000	0.83237	2.535000	0.85469	0.591000	0.81541	GTC	SRPR-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386426.1		-	ENST00000532259.1	Missense_Mutation	SNP	11 : 126133894 - 126133894 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	525	106
HIC2	23119	broad.mit.edu	37	22	21800868	21800868	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21800868G>A	ENST00000443632.2	+	2	2056	c.1684G>A	c.(1684-1686)Gcc>Acc	p.A562T	HIC2_ENST00000407598.2_Missense_Mutation_p.A562T|HIC2_ENST00000407464.2_Missense_Mutation_p.A562T			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	562					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GAAGCCCTTCGCCTGCGATGA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(23;437 858 2282 27947 40366)							NA				0													73	60	64			NA	NA	22		NA											NA				21800868		2203	4300	6503	SO:0001583	missense			AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635	23119	23119		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	18595	protein-coding gene	gene with protein product		607712			NA	11554746	Standard		NM_015094	NA	Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.1684G>A	22.37:g.21800868G>A	ENSP00000387757:p.Ala562Thr	NA	Q504T6|Q96KR3|Q9NSM9|Q9UPX9	37	CCDS13789.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370930	0.82573	.	.	ENSG00000169635	ENST00000407464;ENST00000407598;ENST00000443632	T;T;T	0.14893	2.47;2.47;2.47	4.79	4.79	0.61399	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	0.25457	0.0619	N	0.16266	0.395	0.58432	D	0.999991	D	0.89917	1.0	D	0.76071	0.987	T	0.04373	-1.0956	10	0.34782	T	0.22	.	15.4344	0.75133	0.0:0.0:1.0:0.0	.	562	Q96JB3	HIC2_HUMAN	T	562	ENSP00000385319:A562T;ENSP00000384889:A562T;ENSP00000387757:A562T	ENSP00000385319:A562T	A	+	1	0	HIC2	20130868	1.000000	0.71417	0.994000	0.49952	0.868000	0.49771	7.545000	0.82128	2.503000	0.84419	0.558000	0.71614	GCC	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320061.2		+	ENST00000443632.2	Missense_Mutation	SNP	22 : 21800868 - 21800868 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	338	34
DHX58	79132	broad.mit.edu	37	17	40259654	40259654	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40259654C>T	ENST00000251642.3	-	8	1187	c.965G>A	c.(964-966)tGt>tAt	p.C322Y		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	322					innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCGCTCGGCACACAGGATCTG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	30	30			NA	NA	17		NA											NA				40259654		2203	4300	6503	SO:0001583	missense			BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771	79132	79132			29517	protein-coding gene	gene with protein product	RNA helicase LGP2	608588			NA	11735219	Standard	NM_024119	NM_024119	NA	Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.965G>A	17.37:g.40259654C>T	ENSP00000251642:p.Cys322Tyr	NA	Q9HAM6	37	CCDS11416.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.659381	0.47467	.	.	ENSG00000108771	ENST00000251642;ENST00000423748	T	0.04275	3.66	5.38	-6.61	0.01818	.	1.661990	0.03753	N	0.256957	T	0.03739	0.0106	N	0.22421	0.69	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.09377	0.004;0.004	T	0.46652	-0.9176	10	0.59425	D	0.04	.	8.7319	0.34505	0.0:0.588:0.1601:0.2519	.	315;322	B7Z455;Q96C10	.;DHX58_HUMAN	Y	322;285	ENSP00000251642:C322Y	ENSP00000251642:C322Y	C	-	2	0	DHX58	37513180	0.000000	0.05858	0.006000	0.13384	0.982000	0.71751	-3.723000	0.00383	-0.846000	0.04174	0.462000	0.41574	TGT	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257396.1		-	ENST00000251642.3	Missense_Mutation	SNP	17 : 40259654 - 40259654 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	149	28
VEPH1	79674	broad.mit.edu	37	3	157034982	157034982	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157034982T>C	ENST00000362010.2	-	10	2051	c.1744A>G	c.(1744-1746)Aga>Gga	p.R582G	VEPH1_ENST00000392832.2_Missense_Mutation_p.R582G|VEPH1_ENST00000543418.1_Missense_Mutation_p.R582G|VEPH1_ENST00000392833.2_Missense_Mutation_p.R582G|RP11-550I24.2_ENST00000487238.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	582						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ACACAACTTCTCACAGTGTCT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	118	121			NA	NA	3		NA											NA				157034982		2203	4300	6503	SO:0001583	missense			AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415	79674	79674		Pleckstrin homology (PH) domain containing	25735	protein-coding gene	gene with protein product		609594	ventricular zone expressed PH domain homolog 1 (zebrafish)		NA	11214970, 15388229	Standard	NM_024621	NM_024621	NA	Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1744A>G	3.37:g.157034982T>C	ENSP00000354919:p.Arg582Gly	NA	D3DNL0|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	37	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	T	7.140	0.581722	0.13749	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.08282	3.11;3.13;3.11;3.13	5.46	3.06	0.35304	.	0.222976	0.46758	D	0.000273	T	0.07908	0.0198	L	0.44542	1.39	0.36912	D	0.890968	B;B	0.16396	0.002;0.017	B;B	0.15870	0.004;0.014	T	0.14035	-1.0487	10	0.42905	T	0.14	-7.5471	9.0914	0.36612	0.0:0.1564:0.0:0.8436	.	582;582	Q14D04-2;Q14D04	.;MELT_HUMAN	G	582	ENSP00000376578:R582G;ENSP00000354919:R582G;ENSP00000446258:R582G;ENSP00000376577:R582G	ENSP00000354919:R582G	R	-	1	2	VEPH1	158517676	0.325000	0.24660	0.534000	0.28014	0.603000	0.37013	1.031000	0.30165	0.929000	0.37192	0.533000	0.62120	AGA	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351845.3		-	ENST00000362010.2	Missense_Mutation	SNP	3 : 157034982 - 157034982 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	428	22
CHD7	55636	broad.mit.edu	37	8	61729060	61729060	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61729060G>A	ENST00000423902.2	+	8	3092	c.2613G>A	c.(2611-2613)gaG>gaA	p.E871E	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Splice_Site_p.E871E	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	871					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TCCTTTCAGAGGTACGACATA	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Insertion - In frame(1)	lung(1)											56	50	51			NA	NA	8		NA											NA				61729060		1812	4074	5886	SO:0001630	splice_region_variant			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316	55636	55636			20626	protein-coding gene	gene with protein product		608892	CHARGE association	CRG	NA	15300250, 18834967	Standard	XM_098762	NM_017780	NA	Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.2613+1G>A	8.37:g.61729060G>A		NA	Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	37	CCDS47865.1																																																																																			CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383468.2	Silent	+	ENST00000423902.2	Splice_Site	SNP	8 : 61729060 - 61729060 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	75	11
TRIO	7204	broad.mit.edu	37	5	14485348	14485348	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14485348T>G	ENST00000344204.4	+	47	6852	c.6828T>G	c.(6826-6828)ttT>ttG	p.F2276L	TRIO_ENST00000537187.1_Missense_Mutation_p.F2276L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2276					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGCGCAATTTTTTAAATGGTA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	69	68			NA	NA	5		NA											NA				14485348		2203	4300	6503	SO:0001583	missense			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382	7204	7204		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing	12303	protein-coding gene	gene with protein product		601893	triple functional domain (PTPRF interacting)		NA	8643598	Standard	NM_007118	NM_007118	NA	Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.6828T>G	5.37:g.14485348T>G	ENSP00000339299:p.Phe2276Leu	NA	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	37	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	T	16.71	3.199716	0.58126	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	T;T	0.39229	1.09;1.09	5.34	5.34	0.76211	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.55049	0.1896	M	0.64080	1.96	0.47374	D	0.999408	D;D	0.64830	0.994;0.992	P;D	0.69654	0.855;0.965	T	0.52540	-0.8562	10	0.11794	T	0.64	.	11.2948	0.49272	0.0:0.073:0.0:0.927	.	2276;2276	O75962-5;O75962	.;TRIO_HUMAN	L	2276;2276;1963	ENSP00000339299:F2276L;ENSP00000446348:F2276L	ENSP00000339299:F2276L	F	+	3	2	TRIO	14538348	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	2.046000	0.41260	2.023000	0.59567	0.528000	0.53228	TTT	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253711.2		+	ENST00000344204.4	Missense_Mutation	SNP	5 : 14485348 - 14485348 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	457	92
HPS4	89781	broad.mit.edu	37	22	26854526	26854526	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26854526A>C	ENST00000398145.2	-	12	2347	c.1731T>G	c.(1729-1731)gcT>gcG	p.A577A	HPS4_ENST00000402105.3_Silent_p.A572A|HPS4_ENST00000398141.1_Silent_p.A590A|HPS4_ENST00000336873.5_Silent_p.A577A|HPS4_ENST00000493455.2_5'UTR	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	577					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						CATTCAGTGAAGCCAGGCTGC	0.552		NA							Hermansky-Pudlak syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	54	59			NA	NA	22		NA											NA				26854526		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	HPS, HPS1-8		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099	89781	89781			15844	protein-coding gene	gene with protein product		606682			NA	11836498, 12663659	Standard	NM_022081	NM_022081	NA	Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.1731T>G	22.37:g.26854526A>C		NA	B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	37	CCDS13835.1																																																																																			HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320778.1		-	ENST00000398145.2	Silent	SNP	22 : 26854526 - 26854526 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	206	28
VSTM1	284415	broad.mit.edu	37	19	54544318	54544318	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54544318C>T	ENST00000338372.2	-	9	783	c.608G>A	c.(607-609)gGa>gAa	p.G203E	VSTM1_ENST00000366170.2_Missense_Mutation_p.G115E|VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000376626.1_Missense_Mutation_p.G172E	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	203						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		ATAGGTCACTCCTTGGGGGTC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	37	38			NA	NA	19		NA											NA				54544318		2203	4300	6503	SO:0001583	missense			AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068	284415	284415		Immunoglobulin superfamily / Immunoglobulin-like domain containing	29455	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_198481	NM_198481	NA	Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.608G>A	19.37:g.54544318C>T	ENSP00000343366:p.Gly203Glu	NA	D2DJS3|Q496B6|Q496B7	37	CCDS12872.1	.	.	.	.	.	.	.	.	.	.	C	5.636	0.302002	0.10678	.	.	ENSG00000189068	ENST00000419106;ENST00000338372;ENST00000376626;ENST00000366170	T;T;T;T	0.49720	1.4;7.0;5.9;0.77	2.67	-2.75	0.05914	.	.	.	.	.	T	0.22859	0.0552	N	0.19112	0.55	0.09310	N	0.999997	B;B	0.22080	0.023;0.064	B;B	0.17433	0.01;0.018	T	0.32348	-0.9910	9	0.02654	T	1	.	6.9053	0.24305	0.0:0.3799:0.0:0.6201	.	172;203	D2DJS4;Q6UX27	.;VSTM1_HUMAN	E	93;203;172;115	ENSP00000409412:G93E;ENSP00000343366:G203E;ENSP00000365813:G172E;ENSP00000444153:G115E	ENSP00000343366:G203E	G	-	2	0	VSTM1	59236130	0.001000	0.12720	0.001000	0.08648	0.449000	0.32228	-1.834000	0.01693	-0.510000	0.06523	0.585000	0.79938	GGA	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000139358.3		-	ENST00000338372.2	Missense_Mutation	SNP	19 : 54544318 - 54544318 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	110	27
GRM5	2915	broad.mit.edu	37	11	88301064	88301064	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88301064A>G	ENST00000305447.4	-	7	1936	c.1787T>C	c.(1786-1788)tTt>tCt	p.F596S	GRM5_ENST00000393297.1_Missense_Mutation_p.F596S|GRM5_ENST00000418177.2_Missense_Mutation_p.F596S|GRM5_ENST00000305432.5_Missense_Mutation_p.F596S|GRM5_ENST00000455756.2_Missense_Mutation_p.F596S	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	596					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TACAGTAACAAACAGGGTGGC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	65	67			NA	NA	11		NA											NA				88301064		2201	4299	6500	SO:0001583	missense			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959	2915	2915		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4597	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 86	604102			NA	7908515	Standard	NM_000842	NM_001143831	NA	Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1787T>C	11.37:g.88301064A>G	ENSP00000306138:p.Phe596Ser	NA		37	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	A	17.66	3.445172	0.63178	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41	5.71	5.71	0.89125	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.92440	0.7600	L	0.50333	1.59	0.51482	D	0.999926	D;D	0.76494	0.999;0.98	D;P	0.80764	0.994;0.828	D	0.91831	0.5475	9	.	.	.	.	15.9905	0.80202	1.0:0.0:0.0:0.0	.	596;596	P41594-2;P41594	.;GRM5_HUMAN	S	596	ENSP00000402912:F596S;ENSP00000405690:F596S;ENSP00000305905:F596S;ENSP00000306138:F596S;ENSP00000376975:F596S	.	F	-	2	0	GRM5	87940712	1.000000	0.71417	0.985000	0.45067	0.769000	0.43574	7.576000	0.82467	2.187000	0.69744	0.533000	0.62120	TTT	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000259226.1		-	ENST00000305447.4	Missense_Mutation	SNP	11 : 88301064 - 88301064 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	251	11
TCF23	150921	broad.mit.edu	37	2	27372993	27372993	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27372993C>T	ENST00000296096.5	+	2	355	c.225C>T	c.(223-225)agC>agT	p.S75S		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	75					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTGCAGAGCGAGGCCAGTC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	46	44			NA	NA	2		NA											NA				27372993		2202	4300	6502	SO:0001819	synonymous_variant			AC013403	CCDS33163.1	2p23.3	2013-05-21			ENSG00000163792	ENSG00000163792	150921	150921		Basic helix-loop-helix proteins	18602	protein-coding gene	gene with protein product		609635			NA	11701948, 10652346	Standard	NM_175769	NM_175769	NA	Approved	OUT, bHLHa24	uc010ylg.2	Q7RTU1	OTTHUMG00000152031	ENST00000296096.5:c.225C>T	2.37:g.27372993C>T		NA	B2RNZ3	37	CCDS33163.1																																																																																			TCF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324980.1		+	ENST00000296096.5	Silent	SNP	2 : 27372993 - 27372993 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	439	12
SCRT2	85508	broad.mit.edu	37	20	644759	644759	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:644759G>A	ENST00000246104.6	-	2	1057	c.480C>T	c.(478-480)tgC>tgT	p.C160C	RP5-850E9.3_ENST00000488788.2_Intron	NM_033129.3	NP_149120.1	Q9NQ03	SCRT2_HUMAN	scratch family zinc finger 2	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|liver(1)|ovary(1)	3						AGGTCTTGCCGCACTCGGCGC	0.791		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	16	16			NA	NA	20		NA											NA				644759		2195	4293	6488	SO:0001819	synonymous_variant				CCDS13006.1	20p13	2013-10-09	2013-10-09		ENSG00000215397	ENSG00000215397	85508	85508		Zinc fingers, C2H2-type	15952	protein-coding gene	gene with protein product			scratch (drosophila homolog) 2, zinc finger protein, scratch homolog 2, zinc finger protein (Drosophila)		NA	11274425	Standard	NM_033129	NM_033129	NA	Approved	ZNF898B	uc002wec.3	Q9NQ03	OTTHUMG00000130829	ENST00000246104.6:c.480C>T	20.37:g.644759G>A		NA		37	CCDS13006.1																																																																																			SCRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253383.2		-	ENST00000246104.6	Silent	SNP	20 : 644759 - 644759 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	174	31
FEZF1	389549	broad.mit.edu	37	7	121944281	121944281	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121944281T>C	ENST00000442488.2	-	1	278	c.211A>G	c.(211-213)Atc>Gtc	p.I71V	FEZF1_ENST00000427185.2_Missense_Mutation_p.I71V|FEZF1_ENST00000331178.4_Missense_Mutation_p.I71V|FEZF1-AS1_ENST00000428449.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	71					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						ATGCAGGGGATCGACGAGTTG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	83	87			NA	NA	7		NA											NA				121944281		2203	4300	6503	SO:0001583	missense			AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610	389549	389549		Zinc fingers, C2H2-type	22788	protein-coding gene	gene with protein product		613301	zinc finger protein 312B	ZNF312B	NA		Standard	NM_001024613	NM_001024613	NA	Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.211A>G	7.37:g.121944281T>C	ENSP00000411145:p.Ile71Val	NA	A0PJY3|A4D0W3|B4DUP9|B7ZM98	37	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	T	11.20	1.569433	0.28003	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.08370	3.16;3.28;3.1	4.65	3.47	0.39725	.	0.116516	0.64402	D	0.000017	T	0.08223	0.0205	L	0.36672	1.1	0.31931	N	0.612159	B;B	0.29432	0.158;0.244	B;B	0.31547	0.042;0.132	T	0.05582	-1.0876	10	0.45353	T	0.12	-18.4477	11.2114	0.48802	0.0:0.0:0.2913:0.7087	.	71;71	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	V	71	ENSP00000411145:I71V;ENSP00000332777:I71V;ENSP00000392727:I71V	ENSP00000332777:I71V	I	-	1	0	FEZF1	121731517	0.999000	0.42202	0.999000	0.59377	0.866000	0.49608	1.097000	0.30988	0.883000	0.36040	-0.478000	0.04885	ATC	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347410.1		-	ENST00000442488.2	Missense_Mutation	SNP	7 : 121944281 - 121944281 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	463	70
SLK	9748	broad.mit.edu	37	10	105779604	105779604	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105779604G>A	ENST00000369755.3	+	16	3790	c.3245G>A	c.(3244-3246)cGa>cAa	p.R1082Q	SLK_ENST00000335753.4_Missense_Mutation_p.R1051Q	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	1082					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GCCAAGACTCGAATGGCCATG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(111;540 1651 1927 4474 17706)							NA				0													116	115	116			NA	NA	10		NA											NA				105779604		2203	4300	6503	SO:0001583	missense				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613	9748	9748			11088	protein-coding gene	gene with protein product			SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast), STE20-like kinase (yeast)		NA	3526554	Standard	NM_014720	NM_014720	NA	Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.3245G>A	10.37:g.105779604G>A	ENSP00000358770:p.Arg1082Gln	NA	D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	37	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	G	36	5.906712	0.97093	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.34472	1.36;1.36	5.73	5.73	0.89815	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.68035	0.2957	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.72792	-0.4186	10	0.87932	D	0	.	19.8949	0.96954	0.0:0.0:1.0:0.0	.	1051;1082	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	Q	1051;1082	ENSP00000336824:R1051Q;ENSP00000358770:R1082Q	ENSP00000336824:R1051Q	R	+	2	0	SLK	105769594	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.712000	0.92718	0.484000	0.47621	CGA	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050188.1		+	ENST00000369755.3	Missense_Mutation	SNP	10 : 105779604 - 105779604 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	596	129
SLC1A1	6505	broad.mit.edu	37	9	4583161	4583161	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4583161C>T	ENST00000262352.3	+	11	1553	c.1317C>T	c.(1315-1317)gtC>gtT	p.V439V		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	439					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	TCATTGCTGTCGACTGGCTCC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4405	2.1+/-5.4	0,1,2202	139	121	127		1317	-10.3	0.1	9		127	0,8600		0,0,4300	no	coding-synonymous	SLC1A1	NM_004170.5		0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077		439/525	4583161	1,13005	2203	4300	6503	SO:0001819	synonymous_variant				CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688	6505	6505		Solute carriers	10939	protein-coding gene	gene with protein product		133550			NA	8020993	Standard		NM_004170	NA	Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.1317C>T	9.37:g.4583161C>T		NA	O75587|Q5VZ24|Q8N199|Q9UEW2	37	CCDS6452.1																																																																																			SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051571.1		+	ENST00000262352.3	Silent	SNP	9 : 4583161 - 4583161 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	609	105
SLC30A7	148867	broad.mit.edu	37	1	101377772	101377772	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101377772T>C	ENST00000370112.4	+	5	676	c.489T>C	c.(487-489)ggT>ggC	p.G163G	SLC30A7_ENST00000357650.4_Silent_p.G163G	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	163	His-rich loop.				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		AACATGGAGGTCATGGACATT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(91;473 1491 3102 16827 21633)							NA				0													227	213	218			NA	NA	1		NA											NA				101377772		2203	4300	6503	SO:0001819	synonymous_variant			AF233345	CCDS776.1	1p21.1	2013-05-22			ENSG00000162695	ENSG00000162695	148867	148867		Solute carriers	19306	protein-coding gene	gene with protein product		611149			NA	12446736	Standard	NM_133496	NM_133496	NA	Approved	ZnTL2, ZNT7	uc001dto.2	Q8NEW0	OTTHUMG00000011815	ENST00000370112.4:c.489T>C	1.37:g.101377772T>C		NA	B2R949|D3DT61|Q8TCH2	37	CCDS776.1																																																																																			SLC30A7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032711.1		+	ENST00000370112.4	Silent	SNP	1 : 101377772 - 101377772 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	988	124
CCNY	219771	broad.mit.edu	37	10	35842011	35842011	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35842011T>C	ENST00000374704.4	+	8	824	c.644T>C	c.(643-645)aTt>aCt	p.I215T	CCNY_ENST00000374706.1_Missense_Mutation_p.I161T|CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000265375.9_Missense_Mutation_p.I161T|CCNY_ENST00000339497.5_Missense_Mutation_p.I190T	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	215	Cyclin N-terminal.				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						TGGAAGCGGATTGTTTTAGGG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	132	132			NA	NA	10		NA											NA				35842011		2203	4300	6503	SO:0001583	missense			AF413522, AY504868	CCDS7189.1, CCDS7190.1, CCDS60513.1	10p11.22	2011-01-25	2007-02-09	2007-02-09	ENSG00000108100	ENSG00000108100	219771	219771			23354	protein-coding gene	gene with protein product		612786	chromosome 10 open reading frame 9	C10orf9	NA	20441050	Standard	NM_181698	XM_005252388	NA	Approved	CFP1, CBCP1	uc001iyw.4	Q8ND76	OTTHUMG00000017955	ENST00000374704.4:c.644T>C	10.37:g.35842011T>C	ENSP00000363836:p.Ile215Thr	NA	B7ZKX9|D3DRY9|Q2M3V4|Q2TU96|Q6NT86|Q7Z4U7|Q8TEX2|Q8TEX3|Q96M99|Q96P45	37	CCDS7189.1	.	.	.	.	.	.	.	.	.	.	T	19.28	3.797952	0.70567	.	.	ENSG00000108100	ENST00000374706;ENST00000537547;ENST00000374704;ENST00000339497;ENST00000265375;ENST00000456784	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	5.32	5.32	0.75619	Cyclin, N-terminal (1);Cyclin-like (3);	0.046078	0.85682	D	0.000000	T	0.44414	0.1292	M	0.91972	3.26	0.80722	D	1	D;P;P	0.52996	0.957;0.837;0.866	P;P;P	0.62298	0.9;0.71;0.665	T	0.56414	-0.7983	10	0.87932	D	0	0.0576	15.5752	0.76373	0.0:0.0:0.0:1.0	.	82;190;215	B7Z8E4;Q8ND76-2;Q8ND76	.;.;CCNY_HUMAN	T	161;215;215;190;161;82	ENSP00000363838:I161T;ENSP00000363836:I215T;ENSP00000344275:I190T;ENSP00000265375:I161T	ENSP00000265375:I161T	I	+	2	0	CCNY	35882017	1.000000	0.71417	0.960000	0.40013	0.883000	0.51084	7.965000	0.87945	2.142000	0.66516	0.533000	0.62120	ATT	CCNY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047568.2		+	ENST00000374704.4	Missense_Mutation	SNP	10 : 35842011 - 35842011 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	562	112
ANK2	287	broad.mit.edu	37	4	114257193	114257193	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114257193C>T	ENST00000357077.4	+	30	3624	c.3571C>T	c.(3571-3573)Cgg>Tgg	p.R1191W	ANK2_ENST00000506722.1_Missense_Mutation_p.R1182W|ANK2_ENST00000394537.3_Missense_Mutation_p.R1191W|ANK2_ENST00000509550.1_Missense_Mutation_p.R367W|ANK2_ENST00000264366.6_Missense_Mutation_p.R1158W	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1158					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.R1191W(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACTCACCAAGCGGATCCGCGT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	NS(1)											74	74	74			NA	NA	4		NA											NA				114257193		2203	4300	6503	SO:0001583	missense			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362	287	287		Ankyrin repeat domain containing	493	protein-coding gene	gene with protein product		106410	long (electrocardiographic) QT syndrome 4	LQT4	NA	7485162, 12571597	Standard	NM_001148	NM_001148	NA	Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.3571C>T	4.37:g.114257193C>T	ENSP00000349588:p.Arg1191Trp	NA	Q01485|Q08AC7|Q08AC8|Q7Z3L5	37	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.89|19.89	3.911636|3.911636	0.72983|0.72983	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000514960|ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550	.|T;T;T;T;T;T;T	.|0.74315	.|-0.83;-0.83;-0.83;-0.83;-0.39;-0.4;-0.83	5.27|5.27	1.04|1.04	0.20106|0.20106	.|.	.|0.000000	.|0.44688	.|D	.|0.000439	D|D	0.84311|0.84311	0.5444|0.5444	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;0.999	.|D;D;D;D;D;D;D	.|0.87578	.|0.969;0.994;0.969;0.982;0.998;0.967;0.975	D|D	0.85192|0.85192	0.1010|0.1010	5|9	.|.	.|.	.|.	.|.	16.0621|16.0621	0.80843|0.80843	0.6236:0.3764:0.0:0.0|0.6236:0.3764:0.0:0.0	.|.	.|367;1158;203;1191;1191;1182;1182	.|E9PCH6;Q01484;Q7Z344;Q01484-2;Q01484-4;Q01484-5;F8WEF9	.|.;ANK2_HUMAN;.;.;.;.;.	V|W	203|1104;1182;237;1206;1191;1191;1158;1182;367	.|ENSP00000421011:R1104W;ENSP00000421067:R1182W;ENSP00000424722:R1206W;ENSP00000378044:R1191W;ENSP00000349588:R1191W;ENSP00000264366:R1158W;ENSP00000426944:R367W	.|.	A|R	+|+	2|1	0|2	ANK2|ANK2	114476642|114476642	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	0.448000|0.448000	0.21726|0.21726	0.559000|0.559000	0.29153|0.29153	0.655000|0.655000	0.94253|0.94253	GCG|CGG	ANK2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256422.2		+	ENST00000357077.4	Missense_Mutation	SNP	4 : 114257193 - 114257193 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	414	30
ADAMTSL1	92949	broad.mit.edu	37	9	18681875	18681875	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:18681875G>A	ENST00000276935.6	+	12	1407	c.1407G>A	c.(1405-1407)atG>atA	p.M469I	ADAMTSL1_ENST00000380548.4_Missense_Mutation_p.M469I|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.M469I			Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	469	TSP type-1 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		ATCGAGGAATGCACACAGGAG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													235	216	222			NA	NA	9		NA											NA				18681875		2203	4300	6503	SO:0001583	missense			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031	92949	92949		Immunoglobulin superfamily / I-set domain containing	14632	protein-coding gene	gene with protein product	punctin	609198	chromosome 9 open reading frame 94	C9orf94	NA	9628581, 11805097	Standard		NM_001040272	NA	Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000276935.6:c.1407G>A	9.37:g.18681875G>A	ENSP00000276935:p.Met469Ile	NA	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	37		.	.	.	.	.	.	.	.	.	.	G	11.23	1.577051	0.28092	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000276935	T;T;T	0.53423	0.62;0.62;0.62	5.71	4.81	0.61882	.	.	.	.	.	T	0.25865	0.0630	N	0.04335	-0.225	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.06075	-1.0847	9	0.39692	T	0.17	.	10.9033	0.47065	0.1429:0.0:0.8571:0.0	.	469	Q8N6G6	ATL1_HUMAN	I	469	ENSP00000369921:M469I;ENSP00000327887:M469I;ENSP00000276935:M469I	ENSP00000276935:M469I	M	+	3	0	ADAMTSL1	18671875	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.337000	0.33862	1.558000	0.49541	0.650000	0.86243	ATG	ADAMTSL1-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000051804.5		+	ENST00000276935.6	Missense_Mutation	SNP	9 : 18681875 - 18681875 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	902	178
USP17L2	377630	broad.mit.edu	37	8	11994754	11994754	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11994754C>T	ENST00000333796.3	-	1	1832	c.1516G>A	c.(1516-1518)Gct>Act	p.A506T	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	506					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TGCAGAGAAGCGAGGGTGCCA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	79	76			NA	NA	8		NA											NA				11994754		1431	3000	4431	SO:0001583	missense			BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443	377630	377630			34434	protein-coding gene	gene with protein product	deubiquitinating enzyme 3	610186	ubiquitin specific peptidase 17-like 2		NA		Standard	NM_201402	NM_201402	NA	Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.1516G>A	8.37:g.11994754C>T	ENSP00000333329:p.Ala506Thr	NA		37	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	C	0.033	-1.324057	0.01309	.	.	ENSG00000223443	ENST00000333796	T	0.11930	2.73	0.418	-0.836	0.10770	.	3.924260	0.01239	U	0.008577	T	0.05547	0.0146	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.24548	-1.0157	9	0.24483	T	0.36	.	.	.	.	.	506	Q6R6M4	U17L2_HUMAN	T	506	ENSP00000333329:A506T	ENSP00000333329:A506T	A	-	1	0	USP17L2	12032163	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	-1.537000	0.02206	-2.082000	0.00868	-2.139000	0.00339	GCT	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383303.2		-	ENST00000333796.3	Missense_Mutation	SNP	8 : 11994754 - 11994754 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	496	20
SYTL2	54843	broad.mit.edu	37	11	85445199	85445199	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85445199C>T	ENST00000316356.4	-	7	1737	c.1173G>A	c.(1171-1173)tcG>tcA	p.S391S	SYTL2_ENST00000527523.1_Silent_p.S342S|SYTL2_ENST00000528231.1_Silent_p.S390S|SYTL2_ENST00000524452.1_Silent_p.S390S|SYTL2_ENST00000389960.4_Silent_p.S390S			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	390					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GATGAAAAAGCGAAGGCTTTC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	140	142			NA	NA	11		NA											NA				85445199		2203	4299	6502	SO:0001819	synonymous_variant			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501	54843	54843			15585	protein-coding gene	gene with protein product	chromosome 11 synaptotagmin, breast cancer-associated antigen SGA-72M, protein phosphatase 1, regulatory subunit 151	612880			NA	10997877	Standard	NM_206927	XM_005274057	NA	Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000316356.4:c.1173G>A	11.37:g.85445199C>T		NA	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	37	CCDS53689.1																																																																																			SYTL2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392191.1		-	ENST00000316356.4	Silent	SNP	11 : 85445199 - 85445199 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	613	118
SQLE	6713	broad.mit.edu	37	8	126030321	126030321	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:126030321G>A	ENST00000265896.5	+	8	2123	c.1225G>A	c.(1225-1227)Gca>Aca	p.A409T	SQLE_ENST00000523430.1_Missense_Mutation_p.A314T	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	409					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TTTGGGAGACGCATATAATAT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	103	105			NA	NA	8		NA											NA				126030321		1828	4076	5904	SO:0001583	missense			D78130	CCDS47918.1	8q24.1	2014-06-23			ENSG00000104549	ENSG00000104549	6713	6713	1.14.13.132		11279	protein-coding gene	gene with protein product	squalene monooxygenase	602019			NA	9286711	Standard	NM_003129	NM_003129	NA	Approved		uc011liq.2	Q14534	OTTHUMG00000164990	ENST00000265896.5:c.1225G>A	8.37:g.126030321G>A	ENSP00000265896:p.Ala409Thr	NA	Q9UEK6	37	CCDS47918.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039032	0.75617	.	.	ENSG00000104549	ENST00000523430;ENST00000265896;ENST00000541193;ENST00000518931	T;T;T	0.75050	-0.9;-0.9;-0.9	5.48	5.48	0.80851	Aromatic-ring hydroxylase-like (1);Squalene epoxidase (1);	0.000000	0.85682	D	0.000000	D	0.89639	0.6773	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91448	0.5179	10	0.72032	D	0.01	-14.8692	19.3542	0.94404	0.0:0.0:1.0:0.0	.	409	Q14534	ERG1_HUMAN	T	314;409;214;61	ENSP00000430331:A314T;ENSP00000265896:A409T;ENSP00000429916:A61T	ENSP00000265896:A409T	A	+	1	0	SQLE	126099503	1.000000	0.71417	0.950000	0.38849	0.012000	0.07955	9.609000	0.98334	2.575000	0.86900	0.655000	0.94253	GCA	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381362.1		+	ENST00000265896.5	Missense_Mutation	SNP	8 : 126030321 - 126030321 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	255	24
EPYC	1833	broad.mit.edu	37	12	91371927	91371927	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91371927A>G	ENST00000261172.3	-	3	370	c.278T>C	c.(277-279)aTt>aCt	p.I93T		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	93					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						AGAGCCATCAATCAGCCTGGG	0.537		NA									OREG0022019	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	126	126			NA	NA	12		NA											NA				91371927		2203	4300	6503	SO:0001583	missense			AF031658	CCDS31870.1	12q21	2010-03-19	2006-11-21	2006-11-21	ENSG00000083782	ENSG00000083782	1833	1833		Proteoglycans / Extracellular Matrix : Small leucine-rich repeats	3053	protein-coding gene	gene with protein product	epiphycan proteoglycan	601657	dermatan sulphate proteoglycan 3, dermatan sulfate proteoglycan 3	DSPG3	NA	8975717	Standard	NM_004950	NM_004950	NA	Approved	Pg-Lb, SLRR3B	uc001tbk.3	Q99645	OTTHUMG00000170072	ENST00000261172.3:c.278T>C	12.37:g.91371927A>G	ENSP00000261172:p.Ile93Thr	1282	A8K3M7|Q8NEJ5	37	CCDS31870.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.720306	0.30503	.	.	ENSG00000083782	ENST00000261172;ENST00000551767	T;T	0.66099	0.5;-0.19	5.48	4.34	0.51931	.	0.359483	0.34338	N	0.004043	T	0.56529	0.1991	L	0.53249	1.67	0.42210	D	0.9918	B	0.09022	0.002	B	0.12837	0.008	T	0.54377	-0.8303	10	0.48119	T	0.1	.	11.5031	0.50450	0.9294:0.0:0.0706:0.0	.	93	Q99645	EPYC_HUMAN	T	93	ENSP00000261172:I93T;ENSP00000448272:I93T	ENSP00000261172:I93T	I	-	2	0	EPYC	89896058	1.000000	0.71417	0.780000	0.31762	0.460000	0.32559	5.945000	0.70226	1.027000	0.39758	0.454000	0.30748	ATT	EPYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407146.2		-	ENST00000261172.3	Missense_Mutation	SNP	12 : 91371927 - 91371927 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	525	88
THPO	7066	broad.mit.edu	37	3	184090519	184090519	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184090519C>T	ENST00000204615.7	-	6	1058	c.844G>A	c.(844-846)Ggc>Agc	p.G282S	THPO_ENST00000421442.2_Missense_Mutation_p.R243K|EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000445696.2_Missense_Mutation_p.G278S	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	282					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGCAGGGAGCCTGTGTCTGAT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													197	210	205			NA	NA	3		NA											NA				184090519		2203	4300	6503	SO:0001583	missense				CCDS3265.1, CCDS54693.1	3q27	2014-01-30	2008-07-31		ENSG00000090534	ENSG00000090534	7066	7066		Endogenous ligands	11795	protein-coding gene	gene with protein product	prepro-thrombopoietin, megakaryocyte stimulating factor, myeloproliferative leukemia virus oncogene ligand, megakaryocyte growth and development factor, MPL ligand, megakaryocyte colony-stimulating factor, c-mpl ligand, thrombopoietin nirs variant 1	600044		MGDF	NA	8202154	Standard	NM_000460	XM_006713738	NA	Approved	TPO, MPLLG	uc003fol.1	P40225	OTTHUMG00000156745	ENST00000204615.7:c.844G>A	3.37:g.184090519C>T	ENSP00000204615:p.Gly282Ser	NA	A1L3Y0|B7ZLR8|B9EGA8|Q13020|Q15790|Q15791|Q15792	37	CCDS3265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.32|16.32	3.090015|3.090015	0.55968|0.55968	.|.	.|.	ENSG00000090534|ENSG00000090534	ENST00000204615;ENST00000445696;ENST00000353488|ENST00000421442	T;T|T	0.33654|0.37058	1.4;1.4|1.22	4.3|4.3	2.31|2.31	0.28768|0.28768	Four-helical cytokine, core (1);|.	0.571172|.	0.15959|.	N|.	0.236359|.	T|T	0.19805|0.19805	0.0476|0.0476	N|N	0.17082|0.17082	0.46|0.46	0.09310|0.09310	N|N	1|1	B;B|B	0.25563|0.21606	0.129;0.079|0.058	B;B|B	0.20767|0.22601	0.031;0.014|0.04	T|T	0.19386|0.19386	-1.0307|-1.0307	10|9	0.45353|0.26408	T|T	0.12|0.33	-16.674|-16.674	5.3085|5.3085	0.15817|0.15817	0.0:0.7299:0.0:0.2701|0.0:0.7299:0.0:0.2701	.|.	278;282|243	P40225-2;P40225|F8W6L1	.;TPO_HUMAN|.	S|K	282;278;243|243	ENSP00000204615:G282S;ENSP00000410763:G278S|ENSP00000411704:R243K	ENSP00000204615:G282S|ENSP00000411704:R243K	G|R	-|-	1|2	0|0	THPO|THPO	185573213|185573213	0.009000|0.009000	0.17119|0.17119	0.321000|0.321000	0.25320|0.25320	0.797000|0.797000	0.45037|0.45037	0.824000|0.824000	0.27379|0.27379	1.020000|1.020000	0.39573|0.39573	0.467000|0.467000	0.42956|0.42956	GGC|AGG	THPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345554.1		-	ENST00000204615.7	Missense_Mutation	SNP	3 : 184090519 - 184090519 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1150	229
CENPE	1062	broad.mit.edu	37	4	104041484	104041484	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:104041484G>A	ENST00000380026.3	-	42	6875	c.6787C>T	c.(6787-6789)Cga>Tga	p.R2263*	CENPE_ENST00000265148.3_Nonsense_Mutation_p.R2384*			Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2316	Kinetochore-binding domain.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCCAGCTCTCGAATTTTCTAT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	71	75			NA	NA	4		NA											NA				104041484		2202	4297	6499	SO:0001587	stop_gained			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778	1062	1062		Kinesins, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	1856	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 61	117143	centromere protein E (312kD)		NA	7851898	Standard		NM_001286734	NA	Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000380026.3:c.6787C>T	4.37:g.104041484G>A	ENSP00000369365:p.Arg2263*	NA	A6NKY9|A8K2U7|Q4LE75	37		.	.	.	.	.	.	.	.	.	.	G	46	12.817774	0.99698	.	.	ENSG00000138778	ENST00000265148;ENST00000380026	.	.	.	4.62	3.76	0.43208	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	10.2376	0.43292	0.0:0.0:0.8017:0.1982	.	.	.	.	X	2384;2263	.	ENSP00000265148:R2384X	R	-	1	2	CENPE	104260933	1.000000	0.71417	0.916000	0.36221	0.067000	0.16453	1.925000	0.40074	1.011000	0.39340	0.655000	0.94253	CGA	CENPE-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000363246.2		-	ENST00000380026.3	Nonsense_Mutation	SNP	4 : 104041484 - 104041484 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	167	26
HDLBP	3069	broad.mit.edu	37	2	242189280	242189280	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242189280C>A	ENST00000391975.1	-	12	1715	c.1488G>T	c.(1486-1488)gaG>gaT	p.E496D	HDLBP_ENST00000476807.1_5'UTR|HDLBP_ENST00000310931.4_Missense_Mutation_p.E496D|HDLBP_ENST00000427183.2_Missense_Mutation_p.E463D|HDLBP_ENST00000391976.2_Missense_Mutation_p.E496D	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	496	KH 5.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GCTCCAGCAGCTCTCGCTTGG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	93	101			NA	NA	2		NA											NA				242189280		2203	4300	6503	SO:0001583	missense				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677	3069	3069			4857	protein-coding gene	gene with protein product		142695	vigilin	VGL	NA	1318310, 8390966	Standard	NM_203346	NM_005336	NA	Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.1488G>T	2.37:g.242189280C>A	ENSP00000375836:p.Glu496Asp	NA	Q53QU2|Q9UCY3	37	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.99|19.99	3.929068|3.929068	0.73327|0.73327	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000373292|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183	.|T;T;T;T	.|0.46451	.|0.87;0.87;0.87;0.87	5.76|5.76	0.977|0.977	0.19733|0.19733	.|K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.47266|0.47266	0.1436|0.1436	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	.|B;B	.|0.28378	.|0.032;0.209	.|B;B	.|0.40477	.|0.33;0.248	T|T	0.45891|0.45891	-0.9230|-0.9230	5|10	.|0.56958	.|D	.|0.05	-44.6837|-44.6837	10.083|10.083	0.42401|0.42401	0.0:0.6771:0.0:0.3229|0.0:0.6771:0.0:0.3229	.|.	.|463;496	.|E7EM71;Q00341	.|.;VIGLN_HUMAN	S|D	305|496;496;496;463	.|ENSP00000375836:E496D;ENSP00000375837:E496D;ENSP00000312042:E496D;ENSP00000399139:E463D	.|ENSP00000312042:E496D	A|E	-|-	1|3	0|2	HDLBP|HDLBP	241837953|241837953	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.971000|0.971000	0.66376|0.66376	2.634000|2.634000	0.46528|0.46528	-0.029000|-0.029000	0.13827|0.13827	0.655000|0.655000	0.94253|0.94253	GCT|GAG	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257245.5		-	ENST00000391975.1	Missense_Mutation	SNP	2 : 242189280 - 242189280 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	436	118
PCDH10	57575	broad.mit.edu	37	4	134071249	134071249	+	Translation_Start_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134071249T>G	ENST00000264360.5	+	0	780					NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	NA					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGGGAGGTGATTGGGTGGCTG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	63	63			NA	NA	4		NA											NA				134071249		2203	4300	6503					AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650	57575	57575		Cadherins / Protocadherins : Non-clustered	13404	protein-coding gene	gene with protein product		608286			NA	10835267	Standard	NM_032961	NM_020815	NA	Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:	4.37:g.134071249T>G		NA	Q4W5F6	37	CCDS34063.1																																																																																			PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364457.2		+	ENST00000264360.5	De_novo_Start_InFrame	SNP	4 : 134071249 - 134071249 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	448	88
GLG1	2734	broad.mit.edu	37	16	74524940	74524940	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:74524940G>A	ENST00000422840.2	-	8	1407	c.1408C>T	c.(1408-1410)Cga>Tga	p.R470*	GLG1_ENST00000447066.2_Nonsense_Mutation_p.R459*|GLG1_ENST00000205061.5_Nonsense_Mutation_p.R470*	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	470						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TTCTCCCCTCGAACTACTTTC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	118	122			NA	NA	16		NA											NA				74524940		2198	4300	6498	SO:0001587	stop_gained				CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863	2734	2734			4316	protein-coding gene	gene with protein product		600753	golgi apparatus protein 1		NA	8530051, 7531823	Standard	NM_012201	NM_012201	NA	Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.1408C>T	16.37:g.74524940G>A	ENSP00000405984:p.Arg470*	NA	D3DUJ7|Q13221|Q6P9D1	37	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	G	38	6.850222	0.97885	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.71	4.75	0.60458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.977	16.2296	0.82322	0.0:0.0:0.8664:0.1336	.	.	.	.	X	470;459;470	.	ENSP00000205061:R470X	R	-	1	2	GLG1	73082441	1.000000	0.71417	0.941000	0.38009	0.939000	0.58152	6.367000	0.73099	1.384000	0.46424	0.655000	0.94253	CGA	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000435750.1		-	ENST00000422840.2	Nonsense_Mutation	SNP	16 : 74524940 - 74524940 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	640	117
CHRNA7	1139	broad.mit.edu	37	15	32460281	32460281	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:32460281G>A	ENST00000306901.3	+	10	1228	c.1131G>A	c.(1129-1131)ccG>ccA	p.P377P	CHRNA7_ENST00000454250.3_Silent_p.P406P|CHRNA7_ENST00000455693.2_Silent_p.P196P	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	377					activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	TGGCGCCGCCGCCCGCCAGCA	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(193;529 2900 40232 43193)							NA				0													21	28	26			NA	NA	15		NA											NA				32460281		2191	4295	6486	SO:0001819	synonymous_variant			Z23141	CCDS10027.1, CCDS53924.1	15q13.3	2012-02-11	2012-02-07		ENSG00000175344	ENSG00000175344	1139	1139		Cholinergic receptors, Ligand-gated ion channels / Acetylcholine receptors, nicotinic	1960	protein-coding gene	gene with protein product	acetylcholine receptor, nicotinic, alpha 7 (neuronal)	118511	cholinergic receptor, nicotinic, alpha polypeptide 7		NA	8188270	Standard		NM_001190455	NA	Approved		uc021sic.2	P36544	OTTHUMG00000129285	ENST00000306901.3:c.1131G>A	15.37:g.32460281G>A		NA	A8K7Q4|Q15826|Q96RH2|Q99555|Q9BXH0	37	CCDS10027.1																																																																																			CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251410.2		+	ENST00000306901.3	Silent	SNP	15 : 32460281 - 32460281 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	451	62
USP15	9958	broad.mit.edu	37	12	62696619	62696619	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:62696619A>G	ENST00000280377.5	+	3	324	c.266A>G	c.(265-267)tAc>tGc	p.Y89C	USP15_ENST00000550632.1_3'UTR|USP15_ENST00000393654.3_Missense_Mutation_p.Y89C|USP15_ENST00000353364.3_Missense_Mutation_p.Y89C|USP15_ENST00000312635.6_Missense_Mutation_p.Y89C	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	89	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GAATTGGATTACATACTGTTG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(181;615 2041 39364 49691 50001)							NA				0													138	133	135			NA	NA	12		NA											NA				62696619		2203	4300	6503	SO:0001583	missense			AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08				9958	9958		Ubiquitin-specific peptidases	12613	protein-coding gene	gene with protein product		604731	ubiquitin specific protease 15		NA	12838346	Standard	NM_006313	NM_001252078	NA	Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.266A>G	12.37:g.62696619A>G	ENSP00000280377:p.Tyr89Cys	NA	Q9HCA6|Q9UNP0|Q9Y5B5	37	CCDS58251.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.6|25.6	4.651365|4.651365	0.88056|0.88056	.|.	.|.	ENSG00000135655|ENSG00000135655	ENST00000549237|ENST00000353364;ENST00000549523;ENST00000280377;ENST00000312635;ENST00000393654;ENST00000548836	.|T;T;T	.|0.32272	.|1.47;1.6;1.46	5.72|5.72	5.72|5.72	0.89469|0.89469	.|Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	.|0.062437	.|0.64402	.|D	.|0.000003	T|T	0.63861|0.63861	0.2547|0.2547	M|M	0.90542|0.90542	3.125|3.125	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|0.999;1.0;1.0;1.0;1.0	T|T	0.71656|0.71656	-0.4527|-0.4527	5|9	.|.	.|.	.|.	-8.6905|-8.6905	15.9922|15.9922	0.80214|0.80214	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|89;89;89;89;89	.|B7Z3J0;B4DN46;Q9Y4E8;Q9Y4E8-2;Q9H8G9	.|.;.;UBP15_HUMAN;.;.	A|C	85|89;89;89;89;89;35	.|ENSP00000258123:Y89C;ENSP00000280377:Y89C;ENSP00000377264:Y89C	.|.	T|Y	+|+	1|2	0|0	USP15|USP15	60982886|60982886	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	9.284000|9.284000	0.95882|0.95882	2.176000|2.176000	0.68965|0.68965	0.455000|0.455000	0.32223|0.32223	ACA|TAC	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407831.2		+	ENST00000280377.5	Missense_Mutation	SNP	12 : 62696619 - 62696619 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	549	106
FTSJ3	117246	broad.mit.edu	37	17	61903629	61903629	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61903629C>A	ENST00000427159.2	-	4	854	c.209G>T	c.(208-210)aGc>aTc	p.S70I		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	70					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CACAATAAGGCTGGATACAGG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													197	212	207			NA	NA	17		NA											NA				61903629		2203	4300	6503	SO:0001583	missense			AF327355	CCDS11644.1	17q23.3	2014-09-11			ENSG00000108592	ENSG00000108592	117246	117246			17136	protein-coding gene	gene with protein product	SPB1 RNA methyltransferase homolog (S. cerevisiae)				NA		Standard		NM_017647	NA	Approved	SPB1	uc002jca.3	Q8IY81	OTTHUMG00000179012	ENST00000427159.2:c.209G>T	17.37:g.61903629C>A	ENSP00000396673:p.Ser70Ile	NA	B2RCA5|D3DU22|Q8N3A3|Q8WXX1|Q9BWM4|Q9NXT6	37	CCDS11644.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890826	0.52014	.	.	ENSG00000108592	ENST00000427159	T	0.43294	0.95	5.04	5.04	0.67666	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.000000	0.85682	D	0.000000	T	0.64204	0.2577	M	0.70842	2.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67401	-0.5680	10	0.87932	D	0	-12.0766	15.9181	0.79539	0.0:1.0:0.0:0.0	.	70	Q8IY81	RRMJ3_HUMAN	I	70	ENSP00000396673:S70I	ENSP00000396673:S70I	S	-	2	0	FTSJ3	59257361	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.815000	0.75242	2.618000	0.88619	0.561000	0.74099	AGC	FTSJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444386.1		-	ENST00000427159.2	Missense_Mutation	SNP	17 : 61903629 - 61903629 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1161	260
LCT	3938	broad.mit.edu	37	2	136567505	136567505	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136567505G>A	ENST00000264162.2	-	8	2422	c.2412C>T	c.(2410-2412)ggC>ggT	p.G804G		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	804	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)		GGCCTTCGAAGCCATCAATGA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	64	64			NA	NA	2		NA											NA				136567505		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.2412C>T	2.37:g.136567505G>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 : 136567505 - 136567505 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	519	136
ENTPD2	954	broad.mit.edu	37	9	139944442	139944442	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139944442C>A	ENST00000355097.2	-	7	1077		c.e7-1		ENTPD2_ENST00000312665.5_Splice_Site	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	NA						integral to membrane	ATP binding			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CAGAGAAGGCCTGTAGGGGGC	0.632		NA									OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	53	51			NA	NA	9		NA											NA				139944442		2203	4300	6503	SO:0001630	splice_region_variant			U91510	CCDS7025.1, CCDS7026.1	9q34	2008-07-21			ENSG00000054179	ENSG00000054179	954	954			3364	protein-coding gene	gene with protein product	CD39-like-1, ecto-ATPase	602012		CD39L1	NA	9271669	Standard	NM_203468	NM_203468	NA	Approved	NTPDase-2	uc004ckw.2	Q9Y5L3	OTTHUMG00000020953	ENST00000355097.2:c.1030-1G>T	9.37:g.139944442C>A		1652	O15464|Q5SPY6	37	CCDS7026.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658255	0.67586	.	.	ENSG00000054179	ENST00000355097;ENST00000312665	.	.	.	4.33	4.33	0.51752	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9858	0.80151	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ENTPD2	139064263	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	5.269000	0.65542	2.208000	0.71279	0.561000	0.74099	.	ENTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055169.1	Intron	-	ENST00000355097.2	Splice_Site	SNP	9 : 139944442 - 139944442 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	529	67
AARS	16	broad.mit.edu	37	16	70287683	70287683	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70287683C>A	ENST00000261772.8	-	19	2684	c.2541G>T	c.(2539-2541)caG>caT	p.Q847H		NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	847					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	TGTCGATGAACTGCTTCGTCT	0.602		NA									OREG0023912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	93	91			NA	NA	16		NA											NA				70287683		2198	4300	6498	SO:0001583	missense			D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	16	16	6.1.1.7	Aminoacyl tRNA synthetases / Class II	20	protein-coding gene	gene with protein product	alanine tRNA ligase 1, cytoplasmic	601065			NA	8595897	Standard	NM_001605	NM_001605	NA	Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.2541G>T	16.37:g.70287683C>A	ENSP00000261772:p.Gln847His	1121	A6NF14|Q53GV7|Q96FA0	37	CCDS32474.1	.	.	.	.	.	.	.	.	.	.	c	8.936	0.964637	0.18583	.	.	ENSG00000090861	ENST00000261772	T	0.64618	-0.11	5.39	4.44	0.53790	.	0.111909	0.64402	D	0.000009	T	0.49779	0.1577	L	0.29908	0.895	0.50467	D	0.999875	P;P	0.37997	0.614;0.614	B;B	0.39738	0.308;0.252	T	0.51466	-0.8702	10	0.54805	T	0.06	-19.1979	8.2528	0.31737	0.0:0.821:0.0:0.179	.	855;847	E7ETK8;P49588	.;SYAC_HUMAN	H	847	ENSP00000261772:Q847H	ENSP00000261772:Q847H	Q	-	3	2	AARS	68845184	1.000000	0.71417	1.000000	0.80357	0.063000	0.16089	2.955000	0.49121	1.284000	0.44531	0.655000	0.94253	CAG	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000435021.2		-	ENST00000261772.8	Missense_Mutation	SNP	16 : 70287683 - 70287683 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	415	18
PAF1	54623	broad.mit.edu	37	19	39880299	39880299	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39880299G>T	ENST00000221265.3	-	4	603	c.273C>A	c.(271-273)acC>acA	p.T91T	PAF1_ENST00000595564.1_Silent_p.T81T|PAF1_ENST00000221266.7_Silent_p.T81T	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	91					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CGATGCGGTAGGTGTCAGGAT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	118	127			NA	NA	19		NA											NA				39880299		2203	4300	6503	SO:0001819	synonymous_variant				CCDS12533.1, CCDS59387.1	19q13.1	2008-02-05				ENSG00000006712	54623	54623			25459	protein-coding gene	gene with protein product		610506			NA	15632063	Standard	NM_019088	NM_019088	NA	Approved	PD2, F23149_1, FLJ11123	uc002old.4	Q8N7H5		ENST00000221265.3:c.273C>A	19.37:g.39880299G>T		NA	O75239|Q9H166|Q9NUU9	37	CCDS12533.1																																																																																			PAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464477.1		-	ENST00000221265.3	Silent	SNP	19 : 39880299 - 39880299 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	382	99
GRIN2D	2906	broad.mit.edu	37	19	48945066	48945066	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48945066T>C	ENST00000263269.3	+	11	2381	c.2293T>C	c.(2293-2295)Tac>Cac	p.Y765H		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	765						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	AGTGCTCAATTACATGGCCCG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	51	56			NA	NA	19		NA											NA				48945066		2203	4300	6503	SO:0001583	missense			U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464	2906	2906		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4588	protein-coding gene	gene with protein product	N-methyl-d-aspartate receptor subunit 2D	602717		NMDAR2D	NA	9480759, 9418891	Standard		NM_000836	NA	Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.2293T>C	19.37:g.48945066T>C	ENSP00000263269:p.Tyr765His	NA		37	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	T	17.47	3.398480	0.62177	.	.	ENSG00000105464	ENST00000263269	T	0.56611	0.45	4.62	4.62	0.57501	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.74176	0.3682	M	0.86178	2.8	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.79300	-0.1860	10	0.87932	D	0	.	13.4795	0.61328	0.0:0.0:0.0:1.0	.	765	O15399	NMDE4_HUMAN	H	765	ENSP00000263269:Y765H	ENSP00000263269:Y765H	Y	+	1	0	GRIN2D	53636878	1.000000	0.71417	1.000000	0.80357	0.075000	0.17131	7.860000	0.86993	2.090000	0.63153	0.374000	0.22700	TAC	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466121.1		+	ENST00000263269.3	Missense_Mutation	SNP	19 : 48945066 - 48945066 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	271	56
SON	6651	broad.mit.edu	37	21	34927550	34927550	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34927550G>A	ENST00000381679.4	+	3	6041	c.6013G>A	c.(6013-6015)Gta>Ata	p.V2005I	SON_ENST00000290239.6_Missense_Mutation_p.V2005I|SON_ENST00000300278.4_Missense_Mutation_p.V2005I|SON_ENST00000356577.4_Missense_Mutation_p.V2005I|SON_ENST00000381692.2_Intron			P18583	SON_HUMAN	SON DNA binding protein	2005	2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AAGGTCTGTGGTAAGAAGACG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	75	76			NA	NA	21		NA											NA				34927550		2203	4300	6503	SO:0001583	missense			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140	6651	6651		G patch domain containing	11183	protein-coding gene	gene with protein product	NRE-binding protein, negative regulatory element-binding protein, Bax antagonist selected in Saccharomyces 1	182465		C21orf50	NA	8318737, 21551269	Standard	NM_138927	NM_032195	NA	Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000381679.4:c.6013G>A	21.37:g.34927550G>A	ENSP00000371095:p.Val2005Ile	NA	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.344|9.344	1.063723|1.063723	0.20067|0.20067	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679;ENST00000421541|ENST00000436227	T;T;T;T|.	0.16073|.	2.37;2.37;2.37;2.37|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.291703|.	0.24525|.	N|.	0.037772|.	T|.	0.31231|.	0.0790|.	N|N	0.08118|0.08118	0|0	0.33302|0.33302	D|D	0.564994|0.564994	B;B;B;B;B|.	0.24823|.	0.063;0.038;0.037;0.112;0.112|.	B;B;B;B;B|.	0.23852|.	0.033;0.015;0.012;0.049;0.033|.	T|.	0.41484|.	-0.9506|.	10|.	0.56958|.	D|.	0.05|.	.|.	11.5444|11.5444	0.50685|0.50685	0.082:0.0:0.918:0.0|0.082:0.0:0.918:0.0	.|.	2005;2005;1686;2005;2005|.	P18583-10;P18583;P18583-2;P18583-3;P18583-6|.	.;SON_HUMAN;.;.;.|.	I|X	2005;2005;2005;2005;66|999	ENSP00000348984:V2005I;ENSP00000290239:V2005I;ENSP00000300278:V2005I;ENSP00000371095:V2005I|.	ENSP00000290239:V2005I|.	V|W	+|+	1|3	0|0	SON|SON	33849420|33849420	0.998000|0.998000	0.40836|0.40836	0.986000|0.986000	0.45419|0.45419	0.745000|0.745000	0.42441|0.42441	3.285000|3.285000	0.51716|0.51716	2.628000|2.628000	0.89032|0.89032	0.650000|0.650000	0.86243|0.86243	GTA|TGG	SON-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000140982.3		+	ENST00000381679.4	Missense_Mutation	SNP	21 : 34927550 - 34927550 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	457	99
RBFA	79863	broad.mit.edu	37	18	77798535	77798535	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77798535C>T	ENST00000306735.5	+	4	547	c.409C>T	c.(409-411)Cga>Tga	p.R137*	RP11-795F19.5_ENST00000569722.1_Intron|RBFA_ENST00000262197.7_Nonsense_Mutation_p.R137*|RP11-795F19.5_ENST00000564012.1_Intron	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	137					rRNA processing	mitochondrion				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						CTCAGCCTGCCGAGCGTACTG	0.542		NA											C	1	5e-04	NA	NA	2184	0.0017	0.9999	,	,	NA	3e-04	NA	NA	NA	4e-04	0.8999	EXOME	NA	NA	9e-04	SNP								NA				0													99	98	98			NA	NA	18		NA											NA				77798535		2203	4300	6503	SO:0001587	stop_gained			BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546	79863	79863			26120	protein-coding gene	gene with protein product			chromosome 18 open reading frame 22	C18orf22	NA	12477932	Standard	NM_024805	NM_024805	NA	Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.409C>T	18.37:g.77798535C>T	ENSP00000305696:p.Arg137*	NA	Q6PF07|Q8WZ65|Q9H776	37	CCDS12021.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	38	7.251414	0.98164	.	.	ENSG00000101546	ENST00000262197;ENST00000306735	.	.	.	4.68	4.68	0.58851	.	0.000000	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.3279	16.3814	0.83462	0.0:1.0:0.0:0.0	.	.	.	.	X	137	.	ENSP00000262197:R137X	R	+	1	2	RBFA	75899523	1.000000	0.71417	0.994000	0.49952	0.955000	0.61496	4.188000	0.58351	2.144000	0.66660	0.561000	0.74099	CGA	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256436.2		+	ENST00000306735.5	Nonsense_Mutation	SNP	18 : 77798535 - 77798535 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	583	49
OSBPL6	114880	broad.mit.edu	37	2	179248841	179248841	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179248841G>T	ENST00000190611.4	+	18	2327	c.1951G>T	c.(1951-1953)Gtc>Ttc	p.V651F	OSBPL6_ENST00000359685.3_Missense_Mutation_p.V615F|OSBPL6_ENST00000409045.3_Missense_Mutation_p.V620F|OSBPL6_ENST00000409631.1_Missense_Mutation_p.V615F|OSBPL6_ENST00000315022.2_Missense_Mutation_p.V655F|OSBPL6_ENST00000392505.2_Missense_Mutation_p.V676F	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	651					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			ATTCAACCCAGTCCTTGGGGA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													239	237	238			NA	NA	2		NA											NA				179248841		2203	4300	6503	SO:0001583	missense			AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156	114880	114880		Oxysterol binding proteins	16388	protein-coding gene	gene with protein product	OSBP-related protein 6	606734			NA	11483621	Standard	NM_032523	NM_001201480	NA	Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.1951G>T	2.37:g.179248841G>T	ENSP00000190611:p.Val651Phe	NA	B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q8N9T0|Q96SR1	37	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955235	0.92726	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56	5.91	5.91	0.95273	.	0.056980	0.64402	D	0.000001	T	0.61311	0.2337	M	0.87328	2.875	0.80722	D	1	B;P;D;D;P	0.56287	0.272;0.551;0.975;0.969;0.837	B;B;P;P;B	0.61070	0.209;0.283;0.883;0.613;0.435	T	0.65088	-0.6253	10	0.62326	D	0.03	-13.4894	20.2985	0.98592	0.0:0.0:1.0:0.0	.	620;655;615;676;651	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3	.;.;.;.;OSBL6_HUMAN	F	676;615;620;651;615;655	ENSP00000376293:V676F;ENSP00000352713:V615F;ENSP00000387248:V620F;ENSP00000190611:V651F;ENSP00000386885:V615F;ENSP00000318723:V655F	ENSP00000190611:V651F	V	+	1	0	OSBPL6	178957087	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.247000	0.65416	2.793000	0.96121	0.655000	0.94253	GTC	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334393.2		+	ENST00000190611.4	Missense_Mutation	SNP	2 : 179248841 - 179248841 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1725	274
RNASEL	6041	broad.mit.edu	37	1	182555156	182555156	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182555156C>A	ENST00000367559.3	-	2	1039	c.786G>T	c.(784-786)gaG>gaT	p.E262D	RNASEL_ENST00000444138.1_Missense_Mutation_p.E262D|RNASEL_ENST00000539397.1_Missense_Mutation_p.E262D	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	262	2-5A binding (P-loop) 2.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TCTCTATGTGCTCTTGCTCCA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	78	79			NA	NA	1		NA											NA				182555156		2203	4300	6503	SO:0001583	missense			L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	6041	6041	3.1.26.-	Ankyrin repeat domain containing	10050	protein-coding gene	gene with protein product		180435	prostate cancer 1	RNS4, PRCA1	NA	7514564	Standard	NM_021133	NM_021133	NA	Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.786G>T	1.37:g.182555156C>A	ENSP00000356530:p.Glu262Asp	NA		37	CCDS1347.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735904	0.30774	.	.	ENSG00000135828	ENST00000367559;ENST00000444138;ENST00000539397	T;T;T	0.65732	-0.17;-0.17;-0.17	5.15	-4.82	0.03171	Ankyrin repeat-containing domain (4);	0.914573	0.09413	N	0.805560	T	0.34164	0.0888	N	0.12961	0.28	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.002;0.002;0.0	T	0.16100	-1.0414	10	0.22109	T	0.4	-4.56	4.0995	0.10007	0.1394:0.5038:0.0876:0.2692	.	262;262;262	Q5W0L2;Q6AI46;Q05823	.;.;RN5A_HUMAN	D	262	ENSP00000356530:E262D;ENSP00000411147:E262D;ENSP00000440844:E262D	ENSP00000356530:E262D	E	-	3	2	RNASEL	180821779	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-1.075000	0.03423	-0.543000	0.06240	0.557000	0.71058	GAG	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085189.1		-	ENST00000367559.3	Missense_Mutation	SNP	1 : 182555156 - 182555156 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	471	44
MYT1	4661	broad.mit.edu	37	20	62838959	62838959	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62838959T>C	ENST00000328439.1	+	7	774	c.410T>C	c.(409-411)gTc>gCc	p.V137A	MYT1_ENST00000536311.1_Missense_Mutation_p.V137A|MYT1_ENST00000360149.4_Intron	NM_004535.2	NP_004526.1	Q01538	MYT1_HUMAN	myelin transcription factor 1	137					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGGAGCCCCGTCAAGTCCCAT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(59;481 1041 20555 21139 33705)							NA				0													81	89	86			NA	NA	20		NA											NA				62838959		2203	4300	6503	SO:0001583	missense			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132	4661	4661		Zinc fingers, C2HC-type containing	7622	protein-coding gene	gene with protein product	neural zinc finger transcription factor 2	600379		PLPB1	NA	1280325, 9268380	Standard	NM_004535	NM_004535	NA	Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.410T>C	20.37:g.62838959T>C	ENSP00000327465:p.Val137Ala	NA	E1P5H0|O94922|Q9UPV2	37	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	t	6.751	0.507434	0.12883	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.36699	1.24;1.24	4.29	-0.302	0.12796	.	2.154190	0.02314	N	0.072344	T	0.18467	0.0443	N	0.15975	0.35	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11012	-1.0605	10	0.08381	T	0.77	-2.8656	3.0817	0.06265	0.2218:0.4444:0.0:0.3339	.	137	Q01538	MYT1_HUMAN	A	137	ENSP00000327465:V137A;ENSP00000442412:V137A	ENSP00000327465:V137A	V	+	2	0	MYT1	62309403	0.000000	0.05858	0.001000	0.08648	0.907000	0.53573	0.105000	0.15333	0.184000	0.20083	0.373000	0.22412	GTC	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080297.1		+	ENST00000328439.1	Missense_Mutation	SNP	20 : 62838959 - 62838959 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	626	146
ZNF212	7988	broad.mit.edu	37	7	148951066	148951066	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148951066G>T	ENST00000335870.2	+	5	1176	c.1048G>T	c.(1048-1050)Gag>Tag	p.E350*		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			TGAGGAGCCAGAGGAGAGCCT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	39	40			NA	NA	7		NA											NA				148951066		2203	4300	6503	SO:0001587	stop_gained			U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260	7988	7988		Zinc fingers, C2H2-type, -	13004	protein-coding gene	gene with protein product		602386			NA	9169157	Standard	NM_012256	NM_012256	NA	Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	ENST00000335870.2:c.1048G>T	7.37:g.148951066G>T	ENSP00000338572:p.Glu350*	NA	B2RCF4|Q13396|Q8N664	37	CCDS5896.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.011410	0.54468	.	.	ENSG00000170260	ENST00000335870	.	.	.	4.99	3.18	0.36537	.	0.811066	0.10930	N	0.618502	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-1.6687	9.7827	0.40658	0.1718:0.0:0.8282:0.0	.	.	.	.	X	350	.	ENSP00000338572:E350X	E	+	1	0	ZNF212	148581999	0.733000	0.28132	0.314000	0.25224	0.078000	0.17371	3.391000	0.52530	0.618000	0.30179	0.561000	0.74099	GAG	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352710.1		+	ENST00000335870.2	Nonsense_Mutation	SNP	7 : 148951066 - 148951066 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	158	35
CFH	3075	broad.mit.edu	37	1	196642123	196642123	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196642123C>A	ENST00000359637.2	+	2	136	c.74C>A	c.(73-75)cCt>cAt	p.P25H	CFH_ENST00000367429.4_Missense_Mutation_p.P25H|CFH_ENST00000496761.1_3'UTR|CFH_ENST00000439155.2_Missense_Mutation_p.P25H			P08603	CFAH_HUMAN	complement factor H	210	Sushi 1.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AATGAACTTCCTCCAAGAAGA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	49	48			NA	NA	1		NA											NA				196642123		2202	4300	6502	SO:0001583	missense			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971	3075	3075		Complement system	4883	protein-coding gene	gene with protein product	beta-1H, H factor 2 (complement), age-related maculopathy susceptibility 1	134370	H factor 1 (complement)	HF, HF1, HF2	NA	2889480, 2963625	Standard	NM_000186	NM_000186	NA	Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.74C>A	1.37:g.196642123C>A	ENSP00000352658:p.Pro25His	NA	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	37		.	.	.	.	.	.	.	.	.	.	C	14.38	2.517558	0.44763	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.69040	1.33;1.25;-0.37	4.99	4.99	0.66335	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.81795	0.4898	M	0.80183	2.485	0.34804	D	0.73707	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.998	D	0.88067	0.2798	9	0.72032	D	0.01	.	13.7649	0.62988	0.0:1.0:0.0:0.0	.	25;25;25;25	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	H	25	ENSP00000356399:P25H;ENSP00000402656:P25H;ENSP00000352658:P25H	ENSP00000352658:P25H	P	+	2	0	CFH	194908746	1.000000	0.71417	0.985000	0.45067	0.158000	0.22134	3.997000	0.57016	2.321000	0.78463	0.462000	0.41574	CCT	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000087502.1		+	ENST00000359637.2	Missense_Mutation	SNP	1 : 196642123 - 196642123 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	283	34
MST1R	4486	broad.mit.edu	37	3	49940700	49940700	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49940700G>A	ENST00000296474.3	-	1	370	c.343C>T	c.(343-345)Ccc>Tcc	p.P115S	CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Missense_Mutation_p.P115S	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	115	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GTGTCACCGGGAGGGCCGTGG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	61	59			NA	NA	3		NA											NA				49940700		2203	4299	6502	SO:0001583	missense			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078	4486	4486		CD molecules	7381	protein-coding gene	gene with protein product		600168	PTK8 protein tyrosine kinase 8	RON, PTK8	NA	8386824	Standard		NM_002447	NA	Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.343C>T	3.37:g.49940700G>A	ENSP00000296474:p.Pro115Ser	NA	B5A944|B5A945|B5A946|B5A947	37	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	G	2.665	-0.278775	0.05679	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.10573	2.86;2.86	4.96	-0.793	0.10922	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.970223	0.08471	N	0.940952	T	0.09024	0.0223	L	0.31578	0.945	0.09310	N	1	B;B;B;B;B	0.31910	0.199;0.008;0.346;0.02;0.001	B;B;B;B;B	0.36244	0.098;0.011;0.22;0.045;0.011	T	0.44982	-0.9292	10	0.23891	T	0.37	-7.214	9.4743	0.38862	0.1899:0.3107:0.4994:0.0	.	115;115;115;115;115	Q04912-3;Q04912-4;Q04912-6;Q04912-5;Q04912	.;.;.;.;RON_HUMAN	S	115	ENSP00000296474:P115S;ENSP00000341325:P115S	ENSP00000296474:P115S	P	-	1	0	MST1R	49915704	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	0.556000	0.23438	-0.120000	0.11809	-1.598000	0.00824	CCC	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345403.1		-	ENST00000296474.3	Missense_Mutation	SNP	3 : 49940700 - 49940700 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	660	32
DDX6	1656	broad.mit.edu	37	11	118625471	118625471	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118625471G>A	ENST00000526070.2	-	13	1762	c.1402C>T	c.(1402-1404)Ctg>Ttg	p.L468L	DDX6_ENST00000264018.4_Silent_p.L468L|DDX6_ENST00000534980.1_Silent_p.L468L	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	468	Helicase C-terminal.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		GCCACATACAGGCTCTTATCA	0.428		NA	T	IGH@	B-NHL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		11	11q23.3	1656	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6		L	0													162	155	157			NA	NA	11		NA											NA				118625471		1865	4099	5964	SO:0001819	synonymous_variant			D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367	1656	1656		DEAD-boxes	2747	protein-coding gene	gene with protein product		600326	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD), DEAD (Asp-Glu-Ala-Asp) box polypeptide 6	HLR2	NA	1579499, 11839790	Standard	NM_004397	NM_004397	NA	Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.1402C>T	11.37:g.118625471G>A		NA	Q5D048	37	CCDS44751.1																																																																																			DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389647.2		-	ENST00000526070.2	Silent	SNP	11 : 118625471 - 118625471 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	672	125
TFCP2L1	29842	broad.mit.edu	37	2	122005784	122005784	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:122005784C>T	ENST00000263707.5	-	5	557	c.460G>A	c.(460-462)Gag>Aag	p.E154K		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	154					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CACAAAAACTCGACTGCATTC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	62	63			NA	NA	2		NA											NA				122005784		2203	4300	6503	SO:0001583	missense			AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112	29842	29842			17925	protein-coding gene	gene with protein product		609785			NA	10644752, 11073954	Standard	NM_014553	NM_014553	NA	Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.460G>A	2.37:g.122005784C>T	ENSP00000263707:p.Glu154Lys	NA	Q4ZG43	37	CCDS2134.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743314	0.89663	.	.	ENSG00000115112	ENST00000263707	T	0.18502	2.21	4.96	4.96	0.65561	CP2 transcription factor (1);	0.116475	0.56097	N	0.000024	T	0.48132	0.1483	M	0.88377	2.95	0.80722	D	1	B;D	0.60160	0.035;0.987	B;D	0.65874	0.137;0.939	T	0.53542	-0.8424	10	0.39692	T	0.17	.	18.6315	0.91361	0.0:1.0:0.0:0.0	.	154;154	Q5JV87;Q9NZI6	.;TF2L1_HUMAN	K	154	ENSP00000263707:E154K	ENSP00000263707:E154K	E	-	1	0	TFCP2L1	121722254	1.000000	0.71417	0.914000	0.36105	0.473000	0.32948	7.748000	0.85085	2.459000	0.83118	0.650000	0.86243	GAG	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000338539.1		-	ENST00000263707.5	Missense_Mutation	SNP	2 : 122005784 - 122005784 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	184	15
ZBED1	9189	broad.mit.edu	37	X	2408449	2408449	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2408449C>A	ENST00000381223.4	-	2	515	c.312G>T	c.(310-312)caG>caT	p.Q104H	ZBED1_ENST00000381218.3_Missense_Mutation_p.Q104H|ZBED1_ENST00000381222.2_Missense_Mutation_p.Q104H|DHRSX_ENST00000334651.5_Intron	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	104						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCTGCCCGGGCTGCTGGGACG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	77	78			NA	NA	X		NA											NA				2408449		2203	4296	6499	SO:0001583	missense			AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717	9189	9189		Pseudoautosomal regions / PAR1, Zinc fingers, BED-type	447	protein-coding gene	gene with protein product		300178	Ac-like transposable element	ALTE	NA	9872452, 9887332, 23533661	Standard	NM_004729	NM_001171135	NA	Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.312G>T	X.37:g.2408449C>A	ENSP00000370621:p.Gln104His	NA	Q96BY4	37	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.158378	0.00321	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218;ENST00000461691	.	.	.	2.62	1.71	0.24356	.	5.059470	0.01243	U	0.008673	T	0.27933	0.0688	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.10337	-1.0634	8	0.27082	T	0.32	-6.024	3.0642	0.06209	0.0:0.4398:0.2263:0.3339	.	104	O96006	ZBED1_HUMAN	H	104	.	ENSP00000370616:Q104H	Q	-	3	2	ZBED1	2418449	0.372000	0.25064	0.003000	0.11579	0.112000	0.19704	0.935000	0.28924	0.150000	0.19136	0.425000	0.28330	CAG	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000144310.3		-	ENST00000381223.4	Missense_Mutation	SNP	X : 2408449 - 2408449 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	425	46
GABRA5	2558	broad.mit.edu	37	15	27114471	27114471	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27114471A>G	ENST00000335625.5	+	3	964	c.76A>G	c.(76-78)Agt>Ggt	p.S26G	GABRA5_ENST00000400081.3_Missense_Mutation_p.S26G|GABRA5_ENST00000557449.1_3'UTR|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000355395.5_Missense_Mutation_p.S26G	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	26					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GAACTTATCCAGTCACTTTGG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	172	173			NA	NA	15		NA											NA				27114471		1936	4155	6091	SO:0001583	missense				CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297	2558	2558		GABA receptors, Ligand-gated ion channels / GABA(A) receptors	4079	protein-coding gene	gene with protein product	GABA(A) receptor, alpha 5	137142			NA	1321750	Standard		NM_000810	NA	Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.76A>G	15.37:g.27114471A>G	ENSP00000335592:p.Ser26Gly	NA	A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	37	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	A	15.25	2.776450	0.49786	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000557484;ENST00000400081;ENST00000554038;ENST00000554596;ENST00000554599	T;T;T;T;T;T	0.80653	-0.55;-0.55;-0.55;-1.08;-1.08;-1.4	5.82	5.82	0.92795	.	0.343920	0.32134	N	0.006526	T	0.62405	0.2425	N	0.08118	0	0.34251	D	0.67878	B	0.02656	0.0	B	0.01281	0.0	T	0.64896	-0.6299	10	0.17832	T	0.49	.	12.5835	0.56403	1.0:0.0:0.0:0.0	.	26	P31644	GBRA5_HUMAN	G	26	ENSP00000335592:S26G;ENSP00000347557:S26G;ENSP00000382953:S26G;ENSP00000451527:S26G;ENSP00000450806:S26G;ENSP00000450717:S26G	ENSP00000335592:S26G	S	+	1	0	GABRA5	24665564	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.530000	0.53539	2.216000	0.71823	0.533000	0.62120	AGT	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415234.1		+	ENST00000335625.5	Missense_Mutation	SNP	15 : 27114471 - 27114471 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	417	77
CACNA1B	774	broad.mit.edu	37	9	141016245	141016245	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:141016245G>A	ENST00000371372.1	+	47	6959	c.6814G>A	c.(6814-6816)Gcc>Acc	p.A2272T	CACNA1B_ENST00000371355.4_Missense_Mutation_p.A2273T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A2271T|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A2270T|CACNA1B_ENST00000277549.5_Missense_Mutation_p.A1466T|CACNA1B_ENST00000277551.2_Silent_p.T2209T	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2272					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTCTGTCCACGCCCTGCCTGA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	46	45			NA	NA	9		NA											NA				141016245		2070	4191	6261	SO:0001583	missense			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408	774	774		Calcium channel subunits, Voltage-gated ion channels / Calcium channels, EF-hand domain containing	1389	protein-coding gene	gene with protein product		601012		CACNL1A5	NA	8825650, 16382099	Standard	NM_000718	NM_000718	NA	Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.6814G>A	9.37:g.141016245G>A	ENSP00000360423:p.Ala2272Thr	NA	B1AQK5	37	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311920	0.23821	.	.	ENSG00000148408	ENST00000371372;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.96940	-3.96;-4.18;-3.95;-3.94;-3.94	5.11	-6.17	0.02091	.	0.987100	0.08256	N	0.973720	D	0.90896	0.7139	L	0.40543	1.245	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.79313	-0.1855	10	0.12766	T	0.61	.	9.4673	0.38820	0.1512:0.2673:0.5814:0.0	.	2271;2270	B1AQK7;B1AQK6	.;.	T	2272;1466;2270;2271;2273	ENSP00000360423:A2272T;ENSP00000277549:A1466T;ENSP00000360414:A2270T;ENSP00000360408:A2271T;ENSP00000360406:A2273T	ENSP00000277549:A1466T	A	+	1	0	CACNA1B	140136066	0.000000	0.05858	0.003000	0.11579	0.919000	0.55068	-0.452000	0.06787	-1.095000	0.03050	-0.378000	0.06908	GCC	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055380.1		+	ENST00000371372.1	Missense_Mutation	SNP	9 : 141016245 - 141016245 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	342	13
SALL4	57167	broad.mit.edu	37	20	50405478	50405478	+	Silent	SNP	G	G	A	rs11698418		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50405478G>A	ENST00000395997.3	-	3	1419	c.1353C>T	c.(1351-1353)caC>caT	p.H451H	SALL4_ENST00000217086.4_Silent_p.H888H|SALL4_ENST00000371539.3_Silent_p.H111H			Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	400					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGTCCGCTCGTGGATCTGAA	0.542		NA											G	1	5e-04	NA	NA	2184	NA	0.9998	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.8148	EXOME	NA	NA	2e-04	SNP								NA				0								G		1,4405	2.1+/-5.4	0,1,2202	85	73	77		2664	-4.4	0.9	20	dbSNP_120	77	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	SALL4	NM_020436.3		0,4,6499	AA,AG,GG	NA	0.0349,0.0227,0.0308		888/1054	50405478	4,13002	2203	4300	6503	SO:0001819	synonymous_variant			AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115	57167	57167		Zinc fingers, C2H2-type	15924	protein-coding gene	gene with protein product		607343	sal (Drosophila)-like 4, sal-like 4 (Drosophila)		NA		Standard		NM_020436	NA	Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000395997.3:c.1353C>T	20.37:g.50405478G>A		NA	Q540H3	37																																																																																				SALL4-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000258918.2		-	ENST00000395997.3	Silent	SNP	20 : 50405478 - 50405478 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	413	75
DZIP1	22873	broad.mit.edu	37	13	96285517	96285517	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:96285517C>A	ENST00000361396.2	-	6	1494	c.656G>T	c.(655-657)cGc>cTc	p.R219L	DZIP1_ENST00000376829.2_Missense_Mutation_p.R219L|DZIP1_ENST00000361156.3_Missense_Mutation_p.R219L|DZIP1_ENST00000347108.3_Missense_Mutation_p.R219L	NM_014934.4	NP_055749.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	219					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			AGTGTGGCGGCGTTGAATGTG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	106	108			NA	NA	13		NA											NA				96285517		2203	4300	6503	SO:0001583	missense			AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874	22873	22873		Zinc fingers, C2H2-type	20908	protein-coding gene	gene with protein product		608671	DAZ interacting protein 1		NA		Standard	NM_014934	NM_014934	NA	Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000361396.2:c.656G>T	13.37:g.96285517C>A	ENSP00000355175:p.Arg219Leu	NA	Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	37	CCDS9477.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437293	0.83885	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.08	4.24	0.50183	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	0.71796	0.3382	M	0.79475	2.455	0.46011	D	0.99881	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.987;0.994;0.985	T	0.76285	-0.3015	10	0.87932	D	0	-7.4353	13.7411	0.62849	0.0:0.9252:0.0:0.0748	.	219;219;219	Q05D25;Q86YF9-2;Q86YF9	.;.;DZIP1_HUMAN	L	219	ENSP00000257312:R219L;ENSP00000355018:R219L;ENSP00000355175:R219L;ENSP00000366025:R219L	ENSP00000257312:R219L	R	-	2	0	DZIP1	95083518	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.759000	0.74934	1.283000	0.44513	0.561000	0.74099	CGC	DZIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045494.3		-	ENST00000361396.2	Missense_Mutation	SNP	13 : 96285517 - 96285517 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	312	23
PITRM1	10531	broad.mit.edu	37	10	3189841	3189841	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:3189841G>A	ENST00000224949.4	-	19	2192	c.2158C>T	c.(2158-2160)Ctg>Ttg	p.L720L	PITRM1-AS1_ENST00000601046.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000380994.1_Silent_p.L278L|PITRM1_ENST00000380989.2_Silent_p.L721L|PITRM1_ENST00000451104.2_Silent_p.L622L			E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	622					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						GATGCGTACAGGTGCCCAGAG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	98	95			NA	NA	10		NA											NA				3189841		1970	4164	6134	SO:0001819	synonymous_variant			AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959	10531	10531			17663	protein-coding gene	gene with protein product	PreP peptidasome		pitrilysin metalloproteinase 1		NA	1036083, 10470851, 16849325	Standard		NM_014889	NA	Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.2158C>T	10.37:g.3189841G>A		NA		37	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	g	0.707	-0.788759	0.02884	.	.	ENSG00000107959	ENST00000451454	.	.	.	5.69	-0.0268	0.13929	.	.	.	.	.	T	0.19846	0.0477	.	.	.	0.28860	N	0.895545	.	.	.	.	.	.	T	0.25117	-1.0141	4	.	.	.	.	0.1444	0.00087	0.2899:0.2552:0.2051:0.2499	.	.	.	.	L	53	.	.	P	-	2	0	PITRM1	3179841	0.855000	0.29742	0.305000	0.25099	0.020000	0.10135	-0.105000	0.10907	0.337000	0.23665	0.561000	0.74099	CCT	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046469.2		-	ENST00000224949.4	Silent	SNP	10 : 3189841 - 3189841 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	796	68
STIL	6491	broad.mit.edu	37	1	47753293	47753293	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47753293G>A	ENST00000360380.3	-	11	1426	c.1063C>T	c.(1063-1065)Ctg>Ttg	p.L355L	STIL_ENST00000337817.5_Silent_p.L355L|STIL_ENST00000371877.3_Silent_p.L355L|STIL_ENST00000396221.2_Silent_p.L355L|STIL_ENST00000243182.6_Silent_p.L355L	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	355					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TCAGCGCTCAGTTCACAACGG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	64	65			NA	NA	1		NA											NA				47753293		2203	4300	6503	SO:0001819	synonymous_variant			M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473	6491	6491			10879	protein-coding gene	gene with protein product		181590	TAL1 (SCL) interrupting locus	SIL	NA	2209547	Standard	NM_003035	NM_003035	NA	Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.1063C>T	1.37:g.47753293G>A		NA	Q5T0C5|Q68CN9	37	CCDS548.1																																																																																			STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021649.2		-	ENST00000360380.3	Silent	SNP	1 : 47753293 - 47753293 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	163	28
DSCC1	79075	broad.mit.edu	37	8	120855907	120855907	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120855907A>G	ENST00000313655.4	-	5	872	c.658T>C	c.(658-660)Tct>Cct	p.S220P		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	220					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTACCAAAAGACCATGATTCA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	165	161			NA	NA	8		NA											NA				120855907		2203	4300	6503	SO:0001583	missense				CCDS6330.1	8q24.12	2013-05-24	2013-05-24		ENSG00000136982	ENSG00000136982	79075	79075			24453	protein-coding gene	gene with protein product	defective in sister chromatid cohesion homolog 1 (S. cerevisiae)	613203	defective in sister chromatid cohesion 1 homolog (S. cerevisiae)		NA	12766176, 20826785	Standard	NM_024094	NM_024094	NA	Approved	DCC1, hDCC1, MGC5528	uc003yov.3	Q9BVC3	OTTHUMG00000165010	ENST00000313655.4:c.658T>C	8.37:g.120855907A>G	ENSP00000322180:p.Ser220Pro	NA	Q969N5	37	CCDS6330.1	.	.	.	.	.	.	.	.	.	.	A	6.220	0.408665	0.11812	.	.	ENSG00000136982	ENST00000313655	T	0.47177	0.85	5.29	1.58	0.23477	.	0.149499	0.64402	D	0.000007	T	0.28499	0.0705	L	0.29908	0.895	0.49687	D	0.999818	B	0.17465	0.022	B	0.20955	0.032	T	0.04440	-1.0951	10	0.21540	T	0.41	-8.5604	4.4856	0.11788	0.5833:0.1665:0.2502:0.0	.	220	Q9BVC3	DCC1_HUMAN	P	220	ENSP00000322180:S220P	ENSP00000322180:S220P	S	-	1	0	DSCC1	120925088	0.999000	0.42202	0.993000	0.49108	0.387000	0.30353	0.837000	0.27558	0.405000	0.25532	-0.321000	0.08615	TCT	DSCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381443.1		-	ENST00000313655.4	Missense_Mutation	SNP	8 : 120855907 - 120855907 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1054	170
MCTP1	79772	broad.mit.edu	37	5	94619986	94619986	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:94619986G>A	ENST00000515393.1	-	1	293	c.294C>T	c.(292-294)aaC>aaT	p.N98N		NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	98					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		AGCAGCACAGGTTGGGCTGCG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	23	22			NA	NA	5		NA											NA				94619986		2152	4202	6354	SO:0001819	synonymous_variant				CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471	79772	79772			26183	protein-coding gene	gene with protein product					NA	15528213	Standard	NM_024717	XM_005272082	NA	Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.294C>T	5.37:g.94619986G>A		NA	Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	37	CCDS34203.1																																																																																			MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370280.3		-	ENST00000515393.1	Silent	SNP	5 : 94619986 - 94619986 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	344	74
KLHL32	114792	broad.mit.edu	37	6	97562152	97562152	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:97562152G>A	ENST00000369261.4	+	7	1484	c.1121G>A	c.(1120-1122)cGc>cAc	p.R374H	KLHL32_ENST00000536676.1_Missense_Mutation_p.R338H|KLHL32_ENST00000539200.1_Missense_Mutation_p.R305H|KLHL32_ENST00000544166.1_Intron	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	374								p.R374H(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TATGACCCCCGCAGTAATTCC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											59	56	57			NA	NA	6		NA											NA				97562152		2203	4300	6503	SO:0001583	missense			AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231	114792	114792		Kelch-like, BTB/POZ domain containing	21221	protein-coding gene	gene with protein product			BTB and kelch domain containing 5, KIAA1900, kelch-like 32 (Drosophila)	BKLHD5, KIAA1900	NA		Standard	NM_052904	NM_052904	NA	Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.1121G>A	6.37:g.97562152G>A	ENSP00000358265:p.Arg374His	NA	E1P528|Q5THT0|Q96PY7	37	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	G	33	5.279969	0.95489	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000539200	T;T;T	0.67865	-0.29;-0.29;-0.29	5.36	5.36	0.76844	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.75503	0.3858	L	0.58428	1.81	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.995;0.999	T	0.70920	-0.4741	10	0.34782	T	0.22	.	19.2822	0.94055	0.0:0.0:1.0:0.0	.	305;338;374;374	B7Z4E2;B7Z346;Q96NJ5;Q6IQ08	.;.;KLH32_HUMAN;.	H	374;338;305	ENSP00000358265:R374H;ENSP00000440382:R338H;ENSP00000441527:R305H	ENSP00000358265:R374H	R	+	2	0	KLHL32	97668873	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.225000	0.95219	2.763000	0.94921	0.655000	0.94253	CGC	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041570.1		+	ENST00000369261.4	Missense_Mutation	SNP	6 : 97562152 - 97562152 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	214	33
MAST1	22983	broad.mit.edu	37	19	12977513	12977513	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12977513C>T	ENST00000251472.4	+	18	2115	c.2076C>T	c.(2074-2076)gaC>gaT	p.D692D		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	692	AGC-kinase C-terminal.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						ACGAGGATGACACGACGGAGG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	56	63			NA	NA	19		NA											NA				12977513		2203	4300	6503	SO:0001819	synonymous_variant			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613	22983	22983			19034	protein-coding gene	gene with protein product		612256			NA		Standard	NM_014975	NM_014975	NA	Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.2076C>T	19.37:g.12977513C>T		NA	O00114|Q8N6X0	37	CCDS32921.1																																																																																			MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451733.2		+	ENST00000251472.4	Silent	SNP	19 : 12977513 - 12977513 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	201	24
TBC1D9	23158	broad.mit.edu	37	4	141543813	141543813	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141543813G>T	ENST00000442267.2	-	21	3411	c.3337C>A	c.(3337-3339)Ctg>Atg	p.L1113M		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1113						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CTGGCCGGCAGGGGCTCAACA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	39	36			NA	NA	4		NA											NA				141543813		2004	4155	6159	SO:0001583	missense			AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436	23158	23158		EF-hand domain containing	21710	protein-coding gene	gene with protein product			TBC1 domain family, member 9		NA	12970790	Standard	NM_015130	NM_015130	NA	Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.3337C>A	4.37:g.141543813G>T	ENSP00000411197:p.Leu1113Met	NA	A6H8U8|D3DNZ1|O94958	37	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	G	4.223	0.040286	0.08148	.	.	ENSG00000109436	ENST00000442267	T	0.50813	0.73	4.86	4.01	0.46588	.	.	.	.	.	T	0.36799	0.0980	L	0.36672	1.1	0.09310	N	1	B	0.17465	0.022	B	0.29598	0.104	T	0.31308	-0.9948	9	0.38643	T	0.18	.	4.3356	0.11085	0.2044:0.2051:0.5906:0.0	.	1113	Q6ZT07	TBCD9_HUMAN	M	1113	ENSP00000411197:L1113M	ENSP00000411197:L1113M	L	-	1	2	TBC1D9	141763263	0.965000	0.33210	0.285000	0.24819	0.513000	0.34164	3.633000	0.54295	1.018000	0.39521	0.655000	0.94253	CTG	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364806.1		-	ENST00000442267.2	Missense_Mutation	SNP	4 : 141543813 - 141543813 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	351	54
MOV10	4343	broad.mit.edu	37	1	113239108	113239108	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113239108G>A	ENST00000369644.1	+	14	2794	c.1765G>A	c.(1765-1767)Gat>Aat	p.D589N	MOV10_ENST00000369645.1_Missense_Mutation_p.D645N|MOV10_ENST00000357443.2_Missense_Mutation_p.D645N|MOV10_ENST00000413052.2_Missense_Mutation_p.D645N|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000468624.1_3'UTR			Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	645					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CATCTTCATCGATGAGGCTGG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	103	106			NA	NA	1		NA											NA				113239108		2203	4300	6503	SO:0001583	missense			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363	4343	4343			7200	protein-coding gene	gene with protein product	functional spliceosome-associated protein 113	610742	Mov10 (Moloney leukemia virus 10, mouse) homolog, Mov10, Moloney leukemia virus 10, homolog (mouse)		NA	12226669	Standard	NM_020963	NM_001286072	NA	Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000369644.1:c.1765G>A	1.37:g.113239108G>A	ENSP00000358658:p.Asp589Asn	NA	Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	37		.	.	.	.	.	.	.	.	.	.	G	36	5.658653	0.96734	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.99023	-5.34;-5.34;-5.34;-5.34	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.99708	0.9888	H	0.99211	4.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97229	0.9883	10	0.87932	D	0	-15.6343	18.4724	0.90779	0.0:0.0:1.0:0.0	.	645	Q9HCE1	MOV10_HUMAN	N	645;645;589;645;583	ENSP00000399797:D645N;ENSP00000358659:D645N;ENSP00000358658:D589N;ENSP00000350028:D645N	ENSP00000350028:D645N	D	+	1	0	MOV10	113040631	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.147000	0.94646	2.680000	0.91292	0.655000	0.94253	GAT	MOV10-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000032908.1		+	ENST00000369644.1	Missense_Mutation	SNP	1 : 113239108 - 113239108 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	649	67
CST7	8530	broad.mit.edu	37	20	24940294	24940294	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:24940294C>T	ENST00000480798.1	+	4	660	c.384C>T	c.(382-384)gtC>gtT	p.V128V	CST7_ENST00000376835.2_Silent_p.V150V	NM_003650.3	NP_003641.3	O76096	CYTF_HUMAN	cystatin F (leukocystatin)	128					immune response	cytoplasm|extracellular region	cysteine-type endopeptidase inhibitor activity			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						ACTCTGAAGTCTGGGTCGTGC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	113	116			NA	NA	20		NA											NA				24940294		2203	4300	6503	SO:0001819	synonymous_variant			AF036342	CCDS13165.1, CCDS13165.2	20p11.21	2008-04-15			ENSG00000077984	ENSG00000077984	8530	8530			2479	protein-coding gene	gene with protein product		603253			NA	9733783, 9632704	Standard	NM_003650	NM_003650	NA	Approved		uc002wtx.2	O76096	OTTHUMG00000032108	ENST00000480798.1:c.384C>T	20.37:g.24940294C>T		NA	Q6FH95|Q7Z4J8|Q9UED4	37	CCDS13165.2																																																																																			CST7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078381.2		+	ENST00000480798.1	Silent	SNP	20 : 24940294 - 24940294 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	571	91
ARID2	196528	broad.mit.edu	37	12	46230589	46230589	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46230589G>A	ENST00000334344.6	+	8	1010	c.838G>A	c.(838-840)Gat>Aat	p.D280N	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.D131N	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	280					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGGCATTAACGATATTGAAGG	0.393		NA	N, S, F		hepatocellular carcinoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0													146	146	146			NA	NA	12		NA											NA				46230589		2203	4300	6503	SO:0001583	missense				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079	196528	196528		-	18037	protein-coding gene	gene with protein product		609539			NA		Standard	XM_350875	NM_152641	NA	Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.838G>A	12.37:g.46230589G>A	ENSP00000335044:p.Asp280Asn	NA	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	37	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	32	5.180385	0.94846	.	.	ENSG00000189079	ENST00000334344;ENST00000422737	T;T	0.52754	0.65;0.65	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.67335	0.2882	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67047	-0.5769	10	0.72032	D	0.01	-13.3765	20.2009	0.98259	0.0:0.0:1.0:0.0	.	280	Q68CP9	ARID2_HUMAN	N	280;131	ENSP00000335044:D280N;ENSP00000415650:D131N	ENSP00000335044:D280N	D	+	1	0	ARID2	44516856	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	9.822000	0.99363	2.767000	0.95098	0.591000	0.81541	GAT	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318380.2		+	ENST00000334344.6	Missense_Mutation	SNP	12 : 46230589 - 46230589 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	539	15
WWC1	23286	broad.mit.edu	37	5	167882444	167882444	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167882444C>A	ENST00000265293.4	+	19	3244	c.2742C>A	c.(2740-2742)tcC>tcA	p.S914S	WWC1_ENST00000521089.1_Silent_p.S914S|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	914	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GCACCCCGTCCCAGGGGCCAT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	105	104			NA	NA	5		NA											NA				167882444		2203	4300	6503	SO:0001819	synonymous_variant			AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645	23286	23286		WW, C2 and coiled-coil domain containing	29435	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 168	610533	WW, C2 and coiled-coil domain containing 1		NA	10048485, 12559952	Standard	NM_015238	NM_001161661	NA	Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2742C>A	5.37:g.167882444C>A		NA	O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	37	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	C	0.039	-1.291924	0.01375	.	.	ENSG00000113645	ENST00000393895;ENST00000524228	.	.	.	5.46	-2.98	0.05513	.	.	.	.	.	T	0.17874	0.0429	.	.	.	0.18873	N	0.999983	.	.	.	.	.	.	T	0.25152	-1.0140	4	.	.	.	.	0.9385	0.01350	0.2684:0.2673:0.2657:0.1986	.	.	.	.	T	876;691	.	.	P	+	1	0	WWC1	167815022	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.200000	0.01237	-0.511000	0.06514	-0.768000	0.03414	CCA	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252791.2		+	ENST00000265293.4	Silent	SNP	5 : 167882444 - 167882444 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	942	175
LINGO1	84894	broad.mit.edu	37	15	77907931	77907931	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77907931G>A	ENST00000355300.6	-	2	492	c.318C>T	c.(316-318)atC>atT	p.I106I	LINGO1_ENST00000561030.1_Silent_p.I100I	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	106					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						CGGCGCTCACGATGTTCTCGT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	39	38			NA	NA	15		NA											NA				77907931		2060	4201	6261	SO:0001819	synonymous_variant			AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783	84894	84894		Immunoglobulin superfamily / I-set domain containing	21205	protein-coding gene	gene with protein product		609791	leucine rich repeat neuronal 6A	LRRN6A	NA	14686891	Standard	NM_032808	XM_006720723	NA	Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.318C>T	15.37:g.77907931G>A		NA	D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	37	CCDS45313.1																																																																																			LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419546.1		-	ENST00000355300.6	Silent	SNP	15 : 77907931 - 77907931 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	103	12
DRGX	644168	broad.mit.edu	37	10	50599296	50599296	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50599296A>T	ENST00000374139.2	-	2	56	c.46T>A	c.(46-48)Ttt>Att	p.F16I	DRGX_ENST00000434016.1_Missense_Mutation_p.F21I			C9JW76	C9JW76_HUMAN	dorsal root ganglia homeobox	21					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						TGATTGCCAAAGGTTGCAGTG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	37	37			NA	NA	10		NA											NA				50599296		1907	4111	6018	SO:0001583	missense				CCDS44388.1, CCDS44388.2	10q11.23	2011-06-20	2007-07-26	2007-07-26	ENSG00000165606	ENSG00000165606	644168	644168		Homeoboxes / PRD class	21536	protein-coding gene	gene with protein product	paired-like homeodomain trancription factor DRG11	606701	paired related homeobox-like 1	PRRXL1	NA	7496632	Standard	XM_060970	NM_001276451	NA	Approved	DRG11	uc021pqd.2	A6NNA5	OTTHUMG00000018192	ENST00000374139.2:c.46T>A	10.37:g.50599296A>T	ENSP00000363254:p.Phe16Ile	NA		37		.	.	.	.	.	.	.	.	.	.	A	25.9	4.687933	0.88639	.	.	ENSG00000165606	ENST00000374139;ENST00000434016	D;D	0.95518	-3.73;-2.75	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.95245	0.8458	N	0.19112	0.55	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	D	0.95023	0.8162	10	0.34782	T	0.22	.	16.17	0.81801	1.0:0.0:0.0:0.0	.	21	C9JW76	.	I	16;21	ENSP00000363254:F16I;ENSP00000401653:F21I	ENSP00000363254:F16I	F	-	1	0	DRGX	50269302	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	8.575000	0.90766	2.224000	0.72417	0.459000	0.35465	TTT	DRGX-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000047987.2		-	ENST00000374139.2	Missense_Mutation	SNP	10 : 50599296 - 50599296 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	108	17
ARRDC1	92714	broad.mit.edu	37	9	140508087	140508087	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140508087G>A	ENST00000371421.4	+	4	365	c.301G>A	c.(301-303)Gag>Aag	p.E101K	ARRDC1_ENST00000491911.1_3'UTR	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	101										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		CACGTCCTTTGAGGGTCCTTT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	106	110			NA	NA	9		NA											NA				140508087		2203	4300	6503	SO:0001583	missense			AJ420420	CCDS7049.1	9q34.3	2013-10-11			ENSG00000197070	ENSG00000197070	92714	92714			28633	protein-coding gene	gene with protein product	alpha-arrestin 1				NA	23886940	Standard	NM_152285	XM_005266119	NA	Approved	MGC40555	uc004cns.3	Q8N5I2	OTTHUMG00000020993	ENST00000371421.4:c.301G>A	9.37:g.140508087G>A	ENSP00000360475:p.Glu101Lys	NA		37	CCDS7049.1	.	.	.	.	.	.	.	.	.	.	g	34	5.359037	0.95854	.	.	ENSG00000197070	ENST00000371421;ENST00000431925;ENST00000419386	T;T;T	0.17854	2.25;2.25;2.25	5.65	5.65	0.86999	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.095855	0.64402	D	0.000001	T	0.47078	0.1426	M	0.81179	2.53	0.80722	D	1	D;D;D	0.89917	0.988;1.0;0.988	D;D;D	0.81914	0.914;0.995;0.936	T	0.46693	-0.9173	10	0.72032	D	0.01	-9.174	18.7737	0.91901	0.0:0.0:1.0:0.0	.	101;101;101	Q5T371;Q8N5I2;Q5T370	.;ARRD1_HUMAN;.	K	101	ENSP00000360475:E101K;ENSP00000406247:E101K;ENSP00000406833:E101K	ENSP00000360475:E101K	E	+	1	0	ARRDC1	139627908	1.000000	0.71417	0.988000	0.46212	0.978000	0.69477	9.052000	0.93855	2.684000	0.91462	0.555000	0.69702	GAG	ARRDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055358.1		+	ENST00000371421.4	Missense_Mutation	SNP	9 : 140508087 - 140508087 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	496	96
IGFALS	3483	broad.mit.edu	37	16	1841445	1841445	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1841445C>T	ENST00000415638.3	-	2	1167	c.1088G>A	c.(1087-1089)cGc>cAc	p.R363H	IGFALS_ENST00000215539.3_Missense_Mutation_p.R325H	NM_001146006.1|NM_004970.2	NP_001139478.1|NP_004961.1	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	325					cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						CTGCCGGATGCGGTTGTGGCC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	30	29			NA	NA	16		NA											NA				1841445		2197	4298	6495	SO:0001583	missense			M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769	3483	3483			5468	protein-coding gene	gene with protein product		601489			NA	1379671, 16114275	Standard		NM_004970	NA	Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638	ENST00000415638.3:c.1088G>A	16.37:g.1841445C>T	ENSP00000416683:p.Arg363His	NA		37	CCDS53982.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.412083	0.25465	.	.	ENSG00000099769	ENST00000215539;ENST00000415638	T;T	0.58210	0.35;0.35	5.37	3.02	0.34903	.	0.313999	0.31612	N	0.007360	T	0.59810	0.2221	L	0.58969	1.84	0.23950	N	0.996374	P;D	0.89917	0.768;1.0	B;D	0.70935	0.215;0.971	T	0.49123	-0.8972	10	0.15066	T	0.55	.	7.5217	0.27633	0.0:0.6865:0.1539:0.1596	.	363;325	E9PGU3;P35858	.;ALS_HUMAN	H	325;363	ENSP00000215539:R325H;ENSP00000416683:R363H	ENSP00000215539:R325H	R	-	2	0	IGFALS	1781446	0.933000	0.31639	0.851000	0.33527	0.523000	0.34469	1.883000	0.39658	1.238000	0.43771	0.561000	0.74099	CGC	IGFALS-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000433576.1		-	ENST00000415638.3	Missense_Mutation	SNP	16 : 1841445 - 1841445 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	184	33
C10orf35	219738	broad.mit.edu	37	10	71392750	71392750	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71392750C>T	ENST00000373279.4	+	4	460	c.301C>T	c.(301-303)Ctt>Ttt	p.L101F	C10orf35_ENST00000491890.1_3'UTR	NM_145306.2	NP_660349.1	Q96D05	CJ035_HUMAN	chromosome 10 open reading frame 35	101						integral to membrane				breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						GCTCATGATGCTTGGTGTTCG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													205	154	171			NA	NA	10		NA											NA				71392750		2203	4300	6503	SO:0001583	missense			BC013587	CCDS7295.1	10q22.2	2003-11-21			ENSG00000171224	ENSG00000171224	219738	219738			23519	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_145306	NM_145306	NA	Approved		uc001jpq.4	Q96D05	OTTHUMG00000018383	ENST00000373279.4:c.301C>T	10.37:g.71392750C>T	ENSP00000362376:p.Leu101Phe	NA		37	CCDS7295.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.448740	0.43531	.	.	ENSG00000171224	ENST00000373279	.	.	.	5.33	5.33	0.75918	.	0.109712	0.40640	N	0.001041	T	0.54886	0.1886	L	0.37800	1.135	0.34725	D	0.729148	D	0.61697	0.99	P	0.60068	0.868	T	0.56565	-0.7958	9	0.13108	T	0.6	-22.5095	12.2872	0.54798	0.0:0.8293:0.1707:0.0	.	101	Q96D05	CJ035_HUMAN	F	101	.	ENSP00000362376:L101F	L	+	1	0	C10orf35	71062756	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	3.426000	0.52778	2.502000	0.84385	0.561000	0.74099	CTT	C10orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048454.1		+	ENST00000373279.4	Missense_Mutation	SNP	10 : 71392750 - 71392750 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	555	88
AIM1	202	broad.mit.edu	37	6	106967596	106967596	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:106967596T>C	ENST00000369066.3	+	2	1776	c.1289T>C	c.(1288-1290)aTc>aCc	p.I430T		NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	430							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GCACAAGACATCCCCACCACT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	97	99			NA	NA	6		NA											NA				106967596		2203	4300	6503	SO:0001583	missense			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297	202	202			356	protein-coding gene	gene with protein product	suppression of tumorigenicity 4, beta-gamma crystallin domain containing 1	601797	suppression of tumorigenicity 4 (malignant melanoma)	ST4	NA	1680551, 12693952	Standard		NM_001624	NA	Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.1289T>C	6.37:g.106967596T>C	ENSP00000358062:p.Ile430Thr	NA	O00296|Q5VWJ2	37	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	T	11.82	1.752937	0.31046	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.71461	-0.57	5.84	-7.45	0.01374	.	1.852220	0.02798	N	0.122911	T	0.25457	0.0619	N	0.25647	0.755	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.07966	-1.0745	10	0.09590	T	0.72	.	6.5901	0.22642	0.1018:0.1453:0.5885:0.1644	.	430	Q9Y4K1	AIM1_HUMAN	T	838;430	ENSP00000358062:I430T	ENSP00000285105:I838T	I	+	2	0	AIM1	107074289	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.901000	0.04093	-0.506000	0.06558	0.533000	0.62120	ATC	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041669.1		+	ENST00000369066.3	Missense_Mutation	SNP	6 : 106967596 - 106967596 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	482	93
ACSL3	2181	broad.mit.edu	37	2	223783810	223783810	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:223783810G>A	ENST00000357430.3	+	7	1226	c.695G>A	c.(694-696)cGg>cAg	p.R232Q	AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Missense_Mutation_p.R232Q	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	232					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding	p.R232Q(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	CCACGCCTGCGGCACATCATC	0.483		NA	T	ETV1	prostate									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		2	2q36	2181	acyl-CoA synthetase long-chain family member 3		E	2	Substitution - Missense(2)	endometrium(2)						G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	115	98	104		695,695	4.8	1	2		104	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ACSL3	NM_004457.3,NM_203372.1	43,43	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign,benign	232/721,232/721	223783810	1,13005	2203	4300	6503	SO:0001583	missense			D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983	2181	2181		Acyl-CoA synthetase family	3570	protein-coding gene	gene with protein product		602371	fatty-acid-Coenzyme A ligase, long-chain 3	FACL3	NA		Standard	NM_004457	NM_004457	NA	Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.695G>A	2.37:g.223783810G>A	ENSP00000350012:p.Arg232Gln	NA	Q60I92|Q8IUM9	37	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196268	0.58126	0.0	1.16E-4	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000540115	T;T;T	0.41400	2.81;2.81;1.0	5.65	4.77	0.60923	AMP-dependent synthetase/ligase (1);	0.118921	0.64402	D	0.000015	T	0.25457	0.0619	N	0.08118	0	0.48511	D	0.999661	B	0.23316	0.083	B	0.19148	0.024	T	0.04781	-1.0927	10	0.46703	T	0.11	-10.7174	14.5474	0.68041	0.0702:0.0:0.9298:0.0	.	232	O95573	ACSL3_HUMAN	Q	232;232;80	ENSP00000350012:R232Q;ENSP00000375918:R232Q;ENSP00000441643:R80Q	ENSP00000350012:R232Q	R	+	2	0	ACSL3	223492054	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.937000	0.70162	1.402000	0.46780	-0.136000	0.14681	CGG	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256862.2		+	ENST00000357430.3	Missense_Mutation	SNP	2 : 223783810 - 223783810 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	312	73
E2F3	1871	broad.mit.edu	37	6	20402509	20402509	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:20402509G>A	ENST00000346618.3	+	1	112	c.46G>A	c.(46-48)Gcc>Acc	p.A16T		NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	16					G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			CCTGGTGACCGCCGGGGGTGG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	19	17			NA	NA	6		NA											NA				20402509		2139	4188	6327	SO:0001583	missense			Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242	1871	1871			3115	protein-coding gene	gene with protein product		600427			NA	8246996	Standard		NM_001949	NA	Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.46G>A	6.37:g.20402509G>A	ENSP00000262904:p.Ala16Thr	NA	Q15000|Q9BZ44	37	CCDS4545.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005005	0.74932	.	.	ENSG00000112242	ENST00000346618	T	0.09163	3.01	4.34	4.34	0.51931	.	0.113819	0.38058	N	0.001839	T	0.09202	0.0227	N	0.08118	0	0.80722	D	1	D	0.67145	0.996	D	0.68621	0.959	T	0.42965	-0.9420	10	0.56958	D	0.05	.	15.8346	0.78789	0.0:0.0:1.0:0.0	.	16	O00716	E2F3_HUMAN	T	16	ENSP00000262904:A16T	ENSP00000262904:A16T	A	+	1	0	E2F3	20510488	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.000000	0.12993	2.241000	0.73720	0.555000	0.69702	GCC	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043828.1		+	ENST00000346618.3	Missense_Mutation	SNP	6 : 20402509 - 20402509 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	200	20
UNC13A	23025	broad.mit.edu	37	19	17735744	17735744	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17735744T>C	ENST00000519716.2	-	35	4090	c.4091A>G	c.(4090-4092)aAa>aGa	p.K1364R	UNC13A_ENST00000550896.1_Missense_Mutation_p.K1362R|UNC13A_ENST00000252773.7_Missense_Mutation_p.K1364R|UNC13A_ENST00000428389.2_Missense_Mutation_p.K1452R|UNC13A_ENST00000551649.1_Missense_Mutation_p.K1364R|UNC13A_ENST00000552293.1_Missense_Mutation_p.K1364R	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1364	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CTCACAGATTTTGGCAAAGAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	60	58			NA	NA	19		NA											NA				17735744		2004	4181	6185	SO:0001583	missense			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477	23025	23025			23150	protein-coding gene	gene with protein product		609894			NA		Standard	XM_038604	NM_001080421	NA	Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.4091A>G	19.37:g.17735744T>C	ENSP00000429562:p.Lys1364Arg	NA		37	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	T	14.45	2.539558	0.45176	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17	4.11	4.11	0.48088	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.182364	0.46758	N	0.000279	T	0.22003	0.0530	L	0.56769	1.78	0.39639	D	0.97029	B	0.06786	0.001	B	0.15870	0.014	T	0.05767	-1.0865	10	0.44086	T	0.13	-13.8649	11.3947	0.49834	0.0:0.0:0.0:1.0	.	1364	Q9UPW8	UN13A_HUMAN	R	1364;1452;1364;1364;1364;1362	ENSP00000429562:K1364R;ENSP00000400409:K1452R;ENSP00000252773:K1364R;ENSP00000447236:K1364R;ENSP00000447572:K1364R;ENSP00000446831:K1362R	ENSP00000252773:K1364R	K	-	2	0	UNC13A	17596744	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.824000	0.55723	1.648000	0.50643	0.254000	0.18369	AAA	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376169.2		-	ENST00000519716.2	Missense_Mutation	SNP	19 : 17735744 - 17735744 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	62
MYT1	4661	broad.mit.edu	37	20	62848447	62848447	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62848447G>A	ENST00000328439.1	+	11	2023	c.1659G>A	c.(1657-1659)gaG>gaA	p.E553E	MYT1_ENST00000536311.1_Silent_p.E553E|MYT1_ENST00000360149.4_Silent_p.E255E	NM_004535.2	NP_004526.1	Q01538	MYT1_HUMAN	myelin transcription factor 1	553					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGCAGCTCGAGGTCCCTCCAT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(59;481 1041 20555 21139 33705)							NA				0													83	76	79			NA	NA	20		NA											NA				62848447		2203	4300	6503	SO:0001819	synonymous_variant			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132	4661	4661		Zinc fingers, C2HC-type containing	7622	protein-coding gene	gene with protein product	neural zinc finger transcription factor 2	600379		PLPB1	NA	1280325, 9268380	Standard	NM_004535	NM_004535	NA	Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1659G>A	20.37:g.62848447G>A		NA	E1P5H0|O94922|Q9UPV2	37	CCDS13558.1																																																																																			MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080297.1		+	ENST00000328439.1	Silent	SNP	20 : 62848447 - 62848447 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	628	105
CDC42BPG	55561	broad.mit.edu	37	11	64602876	64602876	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64602876C>A	ENST00000342711.5	-	16	1895	c.1896G>T	c.(1894-1896)gaG>gaT	p.E632D		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	632					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						ACAGAGCCTCCTCCTTACCAC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	191	187			NA	NA	11		NA											NA				64602876		2201	4297	6498	SO:0001583	missense			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219	55561	55561		Pleckstrin homology (PH) domain containing	29829	protein-coding gene	gene with protein product		613991			NA	9341881, 15194684	Standard	XM_290516	NM_017525	NA	Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.1896G>T	11.37:g.64602876C>A	ENSP00000345133:p.Glu632Asp	NA	O00565	37	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.054298	0.55218	.	.	ENSG00000171219	ENST00000342711	T	0.52057	0.68	4.72	0.326	0.15908	.	0.309656	0.24836	N	0.035208	T	0.48926	0.1527	L	0.36672	1.1	0.25851	N	0.98394	D	0.64830	0.994	D	0.70716	0.97	T	0.31475	-0.9942	10	0.54805	T	0.06	.	4.3078	0.10956	0.3085:0.5054:0.0:0.1861	.	632	Q6DT37	MRCKG_HUMAN	D	632	ENSP00000345133:E632D	ENSP00000345133:E632D	E	-	3	2	CDC42BPG	64359452	0.998000	0.40836	0.985000	0.45067	0.753000	0.42808	0.675000	0.25232	0.160000	0.19432	-0.258000	0.10820	GAG	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000105352.4		-	ENST00000342711.5	Missense_Mutation	SNP	11 : 64602876 - 64602876 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2091	371
IKBKE	9641	broad.mit.edu	37	1	206647703	206647703	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206647703C>A	ENST00000367120.3	+	4	490	c.117C>A	c.(115-117)gtC>gtA	p.V39V	IKBKE_ENST00000463979.1_3'UTR|IKBKE_ENST00000537984.1_5'UTR	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	39	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CTGTGAAGGTCTTCAACACTA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	68	73			NA	NA	1		NA											NA				206647703		2203	4300	6503	SO:0001819	synonymous_variant			AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466		NA	9641			14552	protein-coding gene	gene with protein product		605048			NA	10421793, 10882136	Standard		NM_001193321	NA	Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.117C>A	1.37:g.206647703C>A		NA	D3DT78|Q3KR43|Q5JTS6	37	CCDS30996.1																																																																																			IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088484.1		+	ENST00000367120.3	Silent	SNP	1 : 206647703 - 206647703 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	400	67
TELO2	9894	broad.mit.edu	37	16	1557010	1557010	+	Silent	SNP	G	G	A	rs147404164	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1557010G>A	ENST00000262319.6	+	18	2463	c.2184G>A	c.(2182-2184)gcG>gcA	p.A728A		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	728						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GAAGGCTGGCGCACACCTTAG	0.647		NA											G	3	0.0014	NA	NA	2184	0.01	0.9995	,	,	NA	6e-04	NA	NA	NA	0.0016	0.882	LOWCOV,EXOME	NA	NA	0.0027	SNP								NA				0													68	52	57			NA	NA	16		NA											NA				1557010		2199	4298	6497	SO:0001819	synonymous_variant			AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726	9894	9894			29099	protein-coding gene	gene with protein product		611140	TEL2, telomere maintenance 2, homolog (S. cerevisiae)		NA	9734811, 11230166, 12670948	Standard	NM_016111	NM_016111	NA	Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.2184G>A	16.37:g.1557010G>A		NA	D3DU73|O75168|Q7LDV4|Q9BR21	37	CCDS32363.1																																																																																			TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000103602.2		+	ENST00000262319.6	Silent	SNP	16 : 1557010 - 1557010 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	121	23
ARSH	347527	broad.mit.edu	37	X	2945456	2945456	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2945456G>T	ENST00000381130.2	+	7	1139	c.1139G>T	c.(1138-1140)aGc>aTc	p.S380I		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	380						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GAGCCCACCAGCTTAATGGAC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	136	150			NA	NA	X		NA											NA				2945456		2203	4300	6503	SO:0001583	missense			AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667	347527	347527		Arylsulfatase family	32488	protein-coding gene	gene with protein product		300586	arylsulfatase H		NA	16174644	Standard	NM_001011719	NM_001011719	NA	Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.1139G>T	X.37:g.2945456G>T	ENSP00000370522:p.Ser380Ile	NA		37	CCDS35198.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.349061	0.41599	.	.	ENSG00000205667	ENST00000381130	D	0.99194	-5.54	3.4	3.4	0.38934	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	U	0.000000	D	0.99118	0.9696	M	0.78456	2.415	0.47994	D	0.99956	D	0.89917	1.0	D	0.97110	1.0	D	0.99334	1.0910	10	0.66056	D	0.02	.	14.2922	0.66286	0.0:0.0:1.0:0.0	.	380	Q5FYA8	ARSH_HUMAN	I	380	ENSP00000370522:S380I	ENSP00000370522:S380I	S	+	2	0	ARSH	2955456	1.000000	0.71417	0.009000	0.14445	0.010000	0.07245	7.968000	0.87980	1.328000	0.45358	0.596000	0.82720	AGC	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356489.1		+	ENST00000381130.2	Missense_Mutation	SNP	X : 2945456 - 2945456 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	325	49
STAB1	23166	broad.mit.edu	37	3	52540865	52540865	+	Splice_Site	SNP	C	C	T	rs150932374	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52540865C>T	ENST00000321725.6	+	18	2064	c.1988C>T	c.(1987-1989)gCg>gTg	p.A663V		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	663					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)		AAGATTGTGGCGGTGAGCCTC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	53	55			NA	NA	3		NA											NA				52540865		2203	4300	6503	SO:0001630	splice_region_variant			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.1989+1C>T	3.37:g.52540865C>T		NA	A7E297|Q8IUH0|Q8IUH1|Q93072	37	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375587	0.24857	.	.	ENSG00000010327	ENST00000321725	D	0.84730	-1.89	4.43	-7.21	0.01490	.	1.696930	0.03084	N	0.158847	T	0.68668	0.3026	N	0.14661	0.345	0.80722	D	1	B;B	0.12630	0.001;0.006	B;B	0.08055	0.0;0.003	T	0.43861	-0.9365	10	0.13470	T	0.59	.	8.5153	0.33242	0.1101:0.2287:0.0:0.6612	.	663;663	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	V	663	ENSP00000312946:A663V	ENSP00000312946:A663V	A	+	2	0	STAB1	52515905	0.000000	0.05858	0.003000	0.11579	0.061000	0.15899	-2.219000	0.01218	-1.598000	0.01607	-0.448000	0.05591	GCG	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351380.2	Missense_Mutation	+	ENST00000321725.6	Splice_Site	SNP	3 : 52540865 - 52540865 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	381	79
ADAMTS5	11096	broad.mit.edu	37	21	28296425	28296425	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:28296425G>T	ENST00000284987.5	-	8	2861	c.2740C>A	c.(2740-2742)Cct>Act	p.P914T	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	914	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TGGGAGAGAGGACATCCTTTT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(53;683 1080 10100 14424 45938)							NA				0													93	76	82			NA	NA	21		NA											NA				28296425		2203	4300	6503	SO:0001583	missense			AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736	11096	11096		ADAM metallopeptidases with thrombospondin type 1 motif	221	protein-coding gene	gene with protein product	aggrecanase-2	605007	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)		NA	10438522	Standard		NM_007038	NA	Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.2740C>A	21.37:g.28296425G>T	ENSP00000284987:p.Pro914Thr	NA	Q52LV4|Q9UKP2	37	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	G	5.509	0.278957	0.10458	.	.	ENSG00000154736	ENST00000284987	T	0.50277	0.75	6.07	5.18	0.71444	.	0.419349	0.27846	N	0.017613	T	0.31104	0.0786	N	0.08118	0	0.22684	N	0.998853	B	0.02656	0.0	B	0.06405	0.002	T	0.15838	-1.0423	10	0.37606	T	0.19	.	16.9877	0.86345	0.0:0.0:0.8717:0.1282	.	914	Q9UNA0	ATS5_HUMAN	T	914	ENSP00000284987:P914T	ENSP00000284987:P914T	P	-	1	0	ADAMTS5	27218296	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.614000	0.46359	1.551000	0.49450	0.655000	0.94253	CCT	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000171648.1		-	ENST00000284987.5	Missense_Mutation	SNP	21 : 28296425 - 28296425 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	73
GAL3ST1	9514	broad.mit.edu	37	22	30951867	30951867	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30951867G>A	ENST00000402321.1	-	3	662	c.345C>T	c.(343-345)ttC>ttT	p.F115F	GAL3ST1_ENST00000443111.2_Silent_p.F115F|GAL3ST1_ENST00000406361.1_Silent_p.F115F|GAL3ST1_ENST00000338911.5_Silent_p.F115F|GAL3ST1_ENST00000401975.1_Silent_p.F115F|GAL3ST1_ENST00000402369.1_Silent_p.F115F|GAL3ST1_ENST00000406955.1_Silent_p.F115F			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	115					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						TCGGGTAGTCGAAGTCATTGC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	81	85			NA	NA	22		NA											NA				30951867		2203	4300	6503	SO:0001819	synonymous_variant			D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242	9514	9514		Sulfotransferases, membrane-bound	24240	protein-coding gene	gene with protein product	cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase	602300			NA	9847074, 9030544	Standard	NM_004861	NM_004861	NA	Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.345C>T	22.37:g.30951867G>A		NA	Q96C63	37	CCDS13879.1																																																																																			GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321745.1		-	ENST00000402321.1	Silent	SNP	22 : 30951867 - 30951867 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	704	56
PCDHGA9	56107	broad.mit.edu	37	5	140784890	140784890	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140784890T>G	ENST00000573521.1	+	1	2371	c.2371T>G	c.(2371-2373)Ttg>Gtg	p.L791V	PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1			protocadherin gamma subfamily A, 9	NA										endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATGAGCCTTTGTGCGTCTC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	84	81			NA	NA	5		NA											NA				140784890		2195	4298	6493	SO:0001583	missense			AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26					56107	56107		Cadherins / Protocadherins : Clustered	8707	other	protocadherin		606296			NA	10380929	Standard	NM_018921	NM_018921	NA	Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.2371T>G	5.37:g.140784890T>G	ENSP00000460274:p.Leu791Val	NA		37	CCDS58981.1																																																																																			PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437105.1		+	ENST00000573521.1	Missense_Mutation	SNP	5 : 140784890 - 140784890 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	348	67
CDRT4	284040	broad.mit.edu	37	17	15341418	15341418	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15341418A>G	ENST00000312177.6	-	4	408	c.128T>C	c.(127-129)aTt>aCt	p.I43T	CDRT4_ENST00000519354.1_5'UTR|TVP23C_ENST00000519970.1_3'UTR|TVP23C-CDRT4_ENST00000522212.2_3'UTR	NM_001204477.1	NP_001191406.1	Q8N9R6	CDRT4_HUMAN	CMT1A duplicated region transcript 4	43										endometrium(3)|skin(1)	4				UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)		GCTTTTCTCAATGAGTCTTTT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	115	120			NA	NA	17		NA											NA				15341418		2203	4300	6503	SO:0001583	missense			BC029542	CCDS73995.1	17p12	2011-09-28			ENSG00000239704	ENSG00000239704	284040	284040			14383	protein-coding gene	gene with protein product					NA	11381029	Standard	NM_173622	NM_001204477	NA	Approved	FLJ36674	uc002gop.2	Q8N9R6	OTTHUMG00000059070	ENST00000312177.6:c.128T>C	17.37:g.15341418A>G	ENSP00000310031:p.Ile43Thr	NA	A8MSL9|Q8IZ19	37		.	.	.	.	.	.	.	.	.	.	A	12.06	1.823926	0.32237	.	.	ENSG00000239704	ENST00000520956;ENST00000312177	T	0.34472	1.36	5.01	3.93	0.45458	.	0.119145	0.38058	N	0.001826	T	0.25644	0.0624	L	0.42245	1.32	0.80722	D	1	B	0.30937	0.301	B	0.27715	0.082	T	0.05321	-1.0892	10	0.27082	T	0.32	-19.6174	6.6705	0.23066	0.8924:0.0:0.1076:0.0	.	43	Q8N9R6	CDRT4_HUMAN	T	44;43	ENSP00000310031:I43T	ENSP00000310031:I43T	I	-	2	0	CDRT4	15282143	0.916000	0.31088	0.659000	0.29680	0.106000	0.19336	2.505000	0.45424	0.956000	0.37904	0.482000	0.46254	ATT	CDRT4-001	KNOWN	non_canonical_conserved|non_canonical_other|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000130383.7		-	ENST00000312177.6	Missense_Mutation	SNP	17 : 15341418 - 15341418 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	560	101
COLEC12	81035	broad.mit.edu	37	18	480749	480749	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:480749C>T	ENST00000400256.3	-	2	223	c.16G>A	c.(16-18)Gca>Aca	p.A6T		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	6					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TCCTCCTCTGCGAAGTCGTCT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	121	141			NA	NA	18		NA											NA				480749		2203	4300	6503	SO:0001583	missense			AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270	81035	81035		Collectins	16016	protein-coding gene	gene with protein product		607621			NA	11162630	Standard		NM_130386	NA	Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.16G>A	18.37:g.480749C>T	ENSP00000383115:p.Ala6Thr	NA	Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	37	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984474	0.53934	.	.	ENSG00000158270	ENST00000400256	D	0.89196	-2.48	5.77	4.89	0.63831	.	0.336780	0.30547	N	0.009382	D	0.89550	0.6747	L	0.27053	0.805	0.40126	D	0.976664	D	0.76494	0.999	D	0.68621	0.959	D	0.89636	0.3859	10	0.44086	T	0.13	-8.4186	12.7129	0.57100	0.0:0.8346:0.1654:0.0	.	6	Q5KU26	COL12_HUMAN	T	6	ENSP00000383115:A6T	ENSP00000383115:A6T	A	-	1	0	COLEC12	470749	0.999000	0.42202	0.999000	0.59377	0.998000	0.95712	2.657000	0.46724	1.409000	0.46915	0.650000	0.86243	GCA	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000440746.1		-	ENST00000400256.3	Missense_Mutation	SNP	18 : 480749 - 480749 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	380	78
OR10Q1	219960	broad.mit.edu	37	11	57995968	57995968	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57995968T>C	ENST00000316770.2	-	1	422	c.380A>G	c.(379-381)tAt>tGt	p.Y127C		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y127F(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GATAGCCACATAGCGGTCATA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	breast(1)											88	74	79			NA	NA	11		NA											NA				57995968		2201	4295	6496	SO:0001583	missense			AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475	219960	219960		GPCR / Class A : Olfactory receptors	15134	protein-coding gene	gene with protein product					NA		Standard	NM_001004471	NM_001004471	NA	Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.380A>G	11.37:g.57995968T>C	ENSP00000314324:p.Tyr127Cys	NA	Q6IFG4	37	CCDS31547.1	.	.	.	.	.	.	.	.	.	.	T	10.73	1.432837	0.25813	.	.	ENSG00000180475	ENST00000316770	T	0.56444	0.46	4.45	3.3	0.37823	GPCR, rhodopsin-like superfamily (1);	0.196371	0.25172	N	0.032585	T	0.67468	0.2896	M	0.81239	2.535	0.29356	N	0.865038	D	0.89917	1.0	D	0.68621	0.959	T	0.63251	-0.6679	10	0.66056	D	0.02	.	5.8888	0.18896	0.1485:0.084:0.0:0.7675	.	127	Q8NGQ4	O10Q1_HUMAN	C	127	ENSP00000314324:Y127C	ENSP00000314324:Y127C	Y	-	2	0	OR10Q1	57752544	0.999000	0.42202	0.010000	0.14722	0.057000	0.15508	3.287000	0.51732	0.720000	0.32209	0.455000	0.32223	TAT	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394706.1		-	ENST00000316770.2	Missense_Mutation	SNP	11 : 57995968 - 57995968 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	247	46
RNF103	7844	broad.mit.edu	37	2	86831816	86831816	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86831816G>T	ENST00000237455.4	-	4	2176	c.1208C>A	c.(1207-1209)gCt>gAt	p.A403D	AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000424788.1_RNA|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000597638.1_RNA|RNF103_ENST00000477307.1_5'UTR|RNF103-CHMP3_ENST00000604011.1_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	403					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						TACCCATGAAGCCAGTGTGGT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	87	86			NA	NA	2		NA											NA				86831816		2203	4300	6503	SO:0001583	missense			D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305	7844	7844		RING-type (C3HC4) zinc fingers	12859	protein-coding gene	gene with protein product		602507	zinc finger protein 103 homolog (mouse)	ZFP103	NA	9070305	Standard	NM_005667	NM_005667	NA	Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.1208C>A	2.37:g.86831816G>T	ENSP00000237455:p.Ala403Asp	NA	A6NFV6|Q53SU6|Q8IVB9	37	CCDS33237.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882521	0.72294	.	.	ENSG00000239305	ENST00000237455	T	0.50277	0.75	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.68568	0.3015	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.70193	-0.4939	10	0.87932	D	0	-14.2447	19.5934	0.95525	0.0:0.0:1.0:0.0	.	403	O00237	RN103_HUMAN	D	403	ENSP00000237455:A403D	ENSP00000237455:A403D	A	-	2	0	RNF103	86685327	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.490000	0.97952	2.641000	0.89580	0.460000	0.39030	GCT	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330041.2		-	ENST00000237455.4	Missense_Mutation	SNP	2 : 86831816 - 86831816 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	410	67
CYP2S1	29785	broad.mit.edu	37	19	41704625	41704625	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41704625G>A	ENST00000310054.4	+	5	882	c.666G>A	c.(664-666)atG>atA	p.M222I	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	222					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CCTACGAGATGTTCTCCTGGT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	79	83			NA	NA	19		NA											NA				41704625		2203	4300	6503	SO:0001583	missense			AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600	29785	29785		Cytochrome P450s	15654	protein-coding gene	gene with protein product		611529	cytochrome P450, subfamily IIS, polypeptide 1		NA	11181079	Standard		NM_030622	NA	Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.666G>A	19.37:g.41704625G>A	ENSP00000308032:p.Met222Ile	NA	Q9BZ66	37	CCDS12573.1	.	.	.	.	.	.	.	.	.	.	g	11.61	1.689696	0.29962	.	.	ENSG00000167600	ENST00000301173;ENST00000310054	T	0.01240	5.12	5.19	5.19	0.71726	.	0.210189	0.41001	U	0.000962	T	0.01254	0.0041	N	0.25647	0.755	0.80722	D	1	B	0.29909	0.261	B	0.26517	0.07	T	0.65919	-0.6051	10	0.17369	T	0.5	.	9.7964	0.40737	0.0946:0.0:0.9054:0.0	.	222	Q96SQ9	CP2S1_HUMAN	I	222	ENSP00000308032:M222I	ENSP00000301173:M222I	M	+	3	0	CYP2S1	46396465	1.000000	0.71417	1.000000	0.80357	0.092000	0.18411	1.774000	0.38573	2.419000	0.82065	0.461000	0.40582	ATG	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463287.1		+	ENST00000310054.4	Missense_Mutation	SNP	19 : 41704625 - 41704625 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	729	30
HIBADH	11112	broad.mit.edu	37	7	27565856	27565856	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27565856G>T	ENST00000265395.2	-	8	1194	c.988C>A	c.(988-990)Cta>Ata	p.L330I		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	330					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	TCCTCTCGTAGGAACTGGAAC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	84	93			NA	NA	7		NA											NA				27565856		2203	4300	6503	SO:0001583	missense			AF529362	CCDS5414.1	7p15	2009-06-12			ENSG00000106049	ENSG00000106049	11112	11112	1.1.1.31		4907	protein-coding gene	gene with protein product		608475			NA		Standard	NM_152740	NM_152740	NA	Approved	NS5ATP1	uc003szf.3	P31937	OTTHUMG00000097035	ENST00000265395.2:c.988C>A	7.37:g.27565856G>T	ENSP00000265395:p.Leu330Ile	NA	Q9UDN3	37	CCDS5414.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441916	0.63067	.	.	ENSG00000106049	ENST00000265395	T	0.36340	1.26	6.16	5.29	0.74685	Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.52108	0.1714	M	0.71920	2.185	0.80722	D	1	B	0.27997	0.197	P	0.49665	0.618	T	0.55717	-0.8097	10	0.45353	T	0.12	-1.5058	7.2851	0.26333	0.2718:0.0:0.7282:0.0	.	330	P31937	3HIDH_HUMAN	I	330	ENSP00000265395:L330I	ENSP00000265395:L330I	L	-	1	2	HIBADH	27532381	1.000000	0.71417	0.867000	0.34043	0.821000	0.46438	4.995000	0.63908	1.629000	0.50426	0.650000	0.86243	CTA	HIBADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214132.1		-	ENST00000265395.2	Missense_Mutation	SNP	7 : 27565856 - 27565856 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	165	34
TCTE1	202500	broad.mit.edu	37	6	44247991	44247991	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44247991C>T	ENST00000371505.4	-	5	1555	c.1433G>A	c.(1432-1434)cGc>cAc	p.R478H	TCTE1_ENST00000371504.1_Missense_Mutation_p.R175H|TCTE1_ENST00000371503.3_Missense_Mutation_p.R175H|TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	478										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGCCCGCTGGCGGGCTGCTTC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	84	93	90		1433	5.2	1	6		90	1,8599	1.2+/-3.3	0,1,4299	no	missense	TCTE1	NM_182539.3	29	0,2,6501	TT,TC,CC	NA	0.0116,0.0227,0.0154	benign	478/502	44247991	2,13004	2203	4300	6503	SO:0001583	missense			BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221	202500	202500			11693	protein-coding gene	gene with protein product		186975			NA	2568335, 8646886	Standard	NM_182539	NM_182539	NA	Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.1433G>A	6.37:g.44247991C>T	ENSP00000360560:p.Arg478His	NA	B4DX59|Q8IYS6	37	CCDS4910.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774680	0.70107	2.27E-4	1.16E-4	ENSG00000146221	ENST00000371505;ENST00000371503;ENST00000371504	T;T;T	0.56275	1.89;0.47;0.47	5.17	5.17	0.71159	.	0.141693	0.47852	D	0.000202	T	0.29684	0.0741	N	0.25647	0.755	0.24946	N	0.99182	D	0.56968	0.978	B	0.44085	0.44	T	0.13629	-1.0502	10	0.34782	T	0.22	-40.833	17.2324	0.86988	0.0:1.0:0.0:0.0	.	478	Q5JU00	TCTE1_HUMAN	H	478;175;175	ENSP00000360560:R478H;ENSP00000360558:R175H;ENSP00000360559:R175H	ENSP00000360558:R175H	R	-	2	0	TCTE1	44355969	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	1.123000	0.31308	2.590000	0.87494	0.563000	0.77884	CGC	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040736.1		-	ENST00000371505.4	Missense_Mutation	SNP	6 : 44247991 - 44247991 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	581	124
MICALL1	85377	broad.mit.edu	37	22	38323737	38323737	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38323737G>A	ENST00000215957.6	+	9	1911	c.1785G>A	c.(1783-1785)aaG>aaA	p.K595K	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	595	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					AGCCAGCCAAGCCCTGCAGTG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	76	73			NA	NA	22		NA											NA				38323737		2203	4300	6503	SO:0001819	synonymous_variant			BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139	85377	85377			29804	protein-coding gene	gene with protein product	molecule interacting with Rab13				NA	11258795, 12110185	Standard	NM_033386	NM_033386	NA	Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.1785G>A	22.37:g.38323737G>A		NA	Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	37	CCDS13961.1	.	.	.	.	.	.	.	.	.	.	G	3.848	-0.032402	0.07543	.	.	ENSG00000100139	ENST00000454685	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	T	0.75079	0.3801	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73723	-0.3893	4	.	.	.	.	19.1255	0.93382	0.0:0.0:1.0:0.0	.	.	.	.	T	173	.	.	A	+	1	0	MICALL1	36653683	1.000000	0.71417	1.000000	0.80357	0.292000	0.27327	3.334000	0.52097	2.513000	0.84729	0.555000	0.69702	GCC	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319545.4		+	ENST00000215957.6	Silent	SNP	22 : 38323737 - 38323737 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	943	174
USP21	27005	broad.mit.edu	37	1	161130902	161130902	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161130902C>T	ENST00000289865.8	+	2	693	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C	USP21_ENST00000368001.1_Missense_Mutation_p.R158C|USP21_ENST00000368002.3_Missense_Mutation_p.R158C	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	158					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CACTTCTCTCCGCCGCCTAGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	56	56			NA	NA	1		NA											NA				161130902		2203	4300	6503	SO:0001583	missense			AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258	27005	27005		Ubiquitin-specific peptidases	12620	protein-coding gene	gene with protein product		604729	ubiquitin specific protease 21	USP23	NA	12838346, 10799498	Standard		XM_006711273	NA	Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.472C>T	1.37:g.161130902C>T	ENSP00000289865:p.Arg158Cys	NA	Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	37	CCDS30920.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867316	0.72065	.	.	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	T;T;T	0.45668	0.89;0.89;0.89	4.89	4.89	0.63831	.	0.164770	0.26503	U	0.024020	T	0.19446	0.0467	N	0.08118	0	0.44162	D	0.996967	D	0.62365	0.991	P	0.47603	0.551	T	0.10800	-1.0614	10	0.72032	D	0.01	.	13.4333	0.61068	0.0:1.0:0.0:0.0	.	158	Q9UK80	UBP21_HUMAN	C	158	ENSP00000356981:R158C;ENSP00000289865:R158C;ENSP00000356980:R158C	ENSP00000289865:R158C	R	+	1	0	USP21	159397526	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.808000	0.47963	2.538000	0.85594	0.462000	0.41574	CGC	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080801.1		+	ENST00000289865.8	Missense_Mutation	SNP	1 : 161130902 - 161130902 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	82
SMG5	23381	broad.mit.edu	37	1	156238182	156238182	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156238182C>A	ENST00000361813.5	-	8	882	c.738G>T	c.(736-738)gaG>gaT	p.E246D	SMG5_ENST00000368267.5_Missense_Mutation_p.E246D	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	246					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CATAGGCTCCCTCAAAGGACA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	166	166			NA	NA	1		NA											NA				156238182		2203	4300	6503	SO:0001583	missense			AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952	23381	23381			24644	protein-coding gene	gene with protein product	EST1 telomerase component homolog B (S. cerevisiae)	610962	smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)		NA	12676087, 12699629	Standard	NM_015327	NM_015327	NA	Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.738G>T	1.37:g.156238182C>A	ENSP00000355261:p.Glu246Asp	NA	D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	37	CCDS1137.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463389	0.26248	.	.	ENSG00000198952	ENST00000361813;ENST00000368267	T;T	0.30182	1.54;1.54	6.02	3.03	0.35002	.	0.099820	0.64402	D	0.000002	T	0.04543	0.0124	N	0.05012	-0.13	0.42050	D	0.991117	B	0.18013	0.025	B	0.15052	0.012	T	0.25187	-1.0139	10	0.14656	T	0.56	-33.8617	8.0339	0.30480	0.0:0.5959:0.0:0.4041	.	246	Q9UPR3	SMG5_HUMAN	D	246	ENSP00000355261:E246D;ENSP00000357250:E246D	ENSP00000355261:E246D	E	-	3	2	SMG5	154504806	0.989000	0.36119	1.000000	0.80357	0.998000	0.95712	0.277000	0.18734	0.812000	0.34326	0.655000	0.94253	GAG	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046308.1		-	ENST00000361813.5	Missense_Mutation	SNP	1 : 156238182 - 156238182 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1199	230
CDKL5	6792	broad.mit.edu	37	X	18646512	18646512	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18646512C>T	ENST00000379989.3	+	19	2803	c.2518C>T	c.(2518-2520)Cgc>Tgc	p.R840C	CDKL5_ENST00000379996.3_Missense_Mutation_p.R840C	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	840					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AAAATCACTGCGCAAGTTGTT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													251	266	261			NA	NA	X		NA											NA				18646512		2203	4300	6503	SO:0001583	missense			Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086	6792	6792		Cyclin-dependent kinases	11411	protein-coding gene	gene with protein product		300203	serine/threonine kinase 9	STK9	NA	9721213, 16935860	Standard	NM_003159	XM_005274584	NA	Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2518C>T	X.37:g.18646512C>T	ENSP00000369325:p.Arg840Cys	NA	Q14198|Q5H985|Q8IYC7|Q9UJL6	37	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.246893	0.59103	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.75367	-0.93;-0.93	5.73	5.73	0.89815	.	0.049980	0.85682	D	0.000000	T	0.77928	0.4204	L	0.32530	0.975	0.58432	D	0.999995	D	0.89917	1.0	D	0.64506	0.926	T	0.80054	-0.1543	10	0.87932	D	0	-17.7035	12.2655	0.54676	0.0:0.9208:0.0:0.0792	.	840	O76039	CDKL5_HUMAN	C	840	ENSP00000369332:R840C;ENSP00000369325:R840C	ENSP00000369325:R840C	R	+	1	0	CDKL5	18556433	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.594000	0.67557	2.398000	0.81561	0.594000	0.82650	CGC	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055945.2		+	ENST00000379989.3	Missense_Mutation	SNP	X : 18646512 - 18646512 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1733	464
FRAS1	80144	broad.mit.edu	37	4	79403572	79403572	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79403572C>T	ENST00000264895.6	+	58	9075	c.8635C>T	c.(8635-8637)Cag>Tag	p.Q2879*		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2874	Calx-beta 3.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGATGACACTCAGTATCCGGT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													227	228	228			NA	NA	4		NA											NA				79403572		1932	4137	6069	SO:0001587	stop_gained			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759	80144	80144			19185	protein-coding gene	gene with protein product		607830	Fraser syndrome 1		NA	12766769, 3118036	Standard		NM_025074	NA	Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.8635C>T	4.37:g.79403572C>T	ENSP00000264895:p.Gln2879*	NA	Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	37	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.690586|9.690586	0.99240|0.99240	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	.|.	.|.	.|.	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	0.059791|.	0.64402|.	D|.	0.000002|.	.|T	.|0.76990	.|0.4065	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74124	.|-0.3766	.|4	0.40728|.	T|.	0.16|.	.|.	20.3088|20.3088	0.98641|0.98641	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	2879|1107	.|.	ENSP00000264895:Q2879X|.	Q|S	+|+	1|2	0|0	FRAS1|FRAS1	79622596|79622596	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.529000|7.529000	0.81952|0.81952	2.805000|2.805000	0.96524|0.96524	0.579000|0.579000	0.79373|0.79373	CAG|TCA	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding			+	ENST00000264895.6	Nonsense_Mutation	SNP	4 : 79403572 - 79403572 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1159	217
HPN	3249	broad.mit.edu	37	19	35550662	35550662	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35550662C>T	ENST00000262626.2	+	5	1071	c.246C>T	c.(244-246)aaC>aaT	p.N82N	HPN_ENST00000597419.1_Silent_p.N34N|HPN_ENST00000600675.1_3'UTR|HPN_ENST00000392226.1_Silent_p.N82N|HPN-AS1_ENST00000392227.2_RNA	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	82	SRCR.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CGCGCTCCAACGCCAGGGTAG	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	14	15			NA	NA	19		NA											NA				35550662		2195	4293	6488	SO:0001819	synonymous_variant				CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707	3249	3249		Serine peptidases / Transmembrane	5155	protein-coding gene	gene with protein product	transmembrane protease, serine 1	142440			NA	2835076	Standard	NM_002151	NM_182983	NA	Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.246C>T	19.37:g.35550662C>T		NA	B2RDS4	37	CCDS32993.1																																																																																			HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461573.1		+	ENST00000262626.2	Silent	SNP	19 : 35550662 - 35550662 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	54	11
SRC	6714	broad.mit.edu	37	20	36030016	36030016	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36030016G>A	ENST00000373578.2	+	11	1400	c.1051G>A	c.(1051-1053)Gac>Aac	p.D351N	SRC_ENST00000373567.2_Missense_Mutation_p.D351N|SRC_ENST00000360723.4_Missense_Mutation_p.D357N|SRC_ENST00000373558.2_Missense_Mutation_p.D357N|SRC_ENST00000445403.1_Missense_Mutation_p.D351N|SRC_ENST00000477066.1_3'UTR|SRC_ENST00000358208.4_Missense_Mutation_p.D351N	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase	351	Protein kinase.				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	GAGTTTGCTGGACTTTCTCAA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	78	81			NA	NA	20		NA											NA				36030016		2203	4300	6503	SO:0001583	missense			AF077754	CCDS13294.1	20q12-q13	2014-06-25	2014-06-25		ENSG00000197122	ENSG00000197122	6714	6714		SH2 domain containing	11283	protein-coding gene	gene with protein product		190090	v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog	SRC1	NA	2582238	Standard	NM_005417	NM_005417	NA	Approved	ASV, c-src	uc002xgy.3	P12931	OTTHUMG00000032417	ENST00000373578.2:c.1051G>A	20.37:g.36030016G>A	ENSP00000362680:p.Asp351Asn	NA	E1P5V4|Q76P87|Q86VB9|Q9H5A8	37	CCDS13294.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.209156	0.79240	.	.	ENSG00000197122	ENST00000445403;ENST00000373578;ENST00000360723;ENST00000358208;ENST00000373567;ENST00000373558	T;T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63;2.63	4.97	4.97	0.65823	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.11793	0.0287	N	0.21142	0.635	0.80722	D	1	B	0.11235	0.004	B	0.14023	0.01	T	0.06409	-1.0828	10	0.72032	D	0.01	.	15.7693	0.78152	0.0:0.0:1.0:0.0	.	351	P12931	SRC_HUMAN	N	351;351;357;351;351;357	ENSP00000408503:D351N;ENSP00000362680:D351N;ENSP00000353950:D357N;ENSP00000350941:D351N;ENSP00000362668:D351N;ENSP00000362659:D357N	ENSP00000350941:D351N	D	+	1	0	SRC	35463430	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.487000	0.97945	2.565000	0.86533	0.655000	0.94253	GAC	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268142.1		+	ENST00000373578.2	Missense_Mutation	SNP	20 : 36030016 - 36030016 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	471	69
XYLT1	64131	broad.mit.edu	37	16	17353281	17353281	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:17353281G>A	ENST00000261381.6	-	3	561	c.477C>T	c.(475-477)gaC>gaT	p.D159D		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	159					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CATTCTCAAAGTCTTTGGGGA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	127	132			NA	NA	16		NA											NA				17353281		2197	4300	6497	SO:0001819	synonymous_variant			AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	64131	64131	2.4.2.26	Glucosaminyl (N-acetyl) transferase and xylosyltransferase family	15516	protein-coding gene	gene with protein product	protein xylosyltransferase 1	608124			NA	11099377	Standard	NM_022166	NM_022166	NA	Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.477C>T	16.37:g.17353281G>A		NA	Q9H1B6	37	CCDS10569.1																																																																																			XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252241.2		-	ENST00000261381.6	Silent	SNP	16 : 17353281 - 17353281 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	594	117
LRP5	4041	broad.mit.edu	37	11	68206126	68206126	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68206126G>A	ENST00000294304.7	+	20	4430	c.4324G>A	c.(4324-4326)Ggt>Agt	p.G1442S		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1442					adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGCCCCGGGCGGTTCCCAGCA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	23	23			NA	NA	11		NA											NA				68206126		2200	4294	6494	SO:0001583	missense			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337	4041	4041		Low density lipoprotein receptors	6697	protein-coding gene	gene with protein product		603506	osteoporosis pseudoglioma syndrome, exudative vitreoretinopathy 1	LRP7, OPPG, EVR1	NA	9714764, 10049586	Standard	NM_002335	XM_005273994	NA	Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.4324G>A	11.37:g.68206126G>A	ENSP00000294304:p.Gly1442Ser	NA	Q96TD6|Q9UP66	37	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.424492	0.01126	.	.	ENSG00000162337	ENST00000294304	D	0.92911	-3.13	4.53	1.35	0.21983	.	0.238461	0.27306	N	0.019977	T	0.69548	0.3123	N	0.01048	-1.04	0.23708	N	0.997051	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.004	T	0.63166	-0.6698	10	0.06757	T	0.87	.	5.4872	0.16757	0.5554:0.0:0.4446:0.0	.	1442;1442	Q9UES7;O75197	.;LRP5_HUMAN	S	1442	ENSP00000294304:G1442S	ENSP00000294304:G1442S	G	+	1	0	LRP5	67962702	0.249000	0.23941	0.042000	0.18584	0.104000	0.19210	1.543000	0.36147	0.538000	0.28769	0.585000	0.79938	GGT	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395088.1		+	ENST00000294304.7	Missense_Mutation	SNP	11 : 68206126 - 68206126 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	175	34
GDPD3	79153	broad.mit.edu	37	16	30116209	30116209	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30116209G>T	ENST00000406256.3	-	10	1318	c.941C>A	c.(940-942)gCt>gAt	p.A314D		NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	314					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						GGTCCGGGCAGCTGGTCCATG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	82	82			NA	NA	16		NA											NA				30116209		2197	4300	6497	SO:0001583	missense			AK026256	CCDS10671.2	16p11.2	2008-02-05			ENSG00000102886	ENSG00000102886	79153	79153			28638	protein-coding gene	gene with protein product					NA		Standard	NM_024307	NM_024307	NA	Approved	MGC4171	uc002dwp.3	Q7L5L3	OTTHUMG00000132106	ENST00000406256.3:c.941C>A	16.37:g.30116209G>T	ENSP00000384363:p.Ala314Asp	NA	Q9H652	37	CCDS10671.2	.	.	.	.	.	.	.	.	.	.	G	10.92	1.487391	0.26686	.	.	ENSG00000102886	ENST00000406256;ENST00000360688	.	.	.	4.13	-0.602	0.11634	.	1.727610	0.04224	N	0.334052	T	0.24431	0.0592	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.09997	-1.0649	9	0.12430	T	0.62	.	3.0282	0.06098	0.1015:0.3404:0.395:0.1631	.	314	Q7L5L3	GDPD3_HUMAN	D	314;252	.	ENSP00000353909:A252D	A	-	2	0	GDPD3	30023710	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.184000	0.09698	-0.142000	0.11354	0.561000	0.74099	GCT	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255144.1		-	ENST00000406256.3	Missense_Mutation	SNP	16 : 30116209 - 30116209 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	392	72
NOS3	4846	broad.mit.edu	37	7	150692340	150692340	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150692340C>T	ENST00000484524.1	+	2	208	c.208C>T	c.(208-210)Cgt>Tgt	p.R70C	NOS3_ENST00000467517.1_Missense_Mutation_p.R70C|NOS3_ENST00000297494.3_Missense_Mutation_p.R70C|NOS3_ENST00000461406.1_5'UTR	NM_001160111.1	NP_001153583.1	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	70					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CAAGTTCCCTCGTGTGAAGAA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	40	39			NA	NA	7		NA											NA				150692340		2201	4296	6497	SO:0001583	missense				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	4846	4846	1.14.13.39		7876	protein-coding gene	gene with protein product	endothelial nitric oxide synthase	163729			NA	1379542	Standard	NM_000603	NM_000603	NA	Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.208C>T	7.37:g.150692340C>T	ENSP00000420215:p.Arg70Cys	NA	A8KA63|B2RCQ1|Q13662|Q14251|Q14434|Q548C1|Q6GSL5|Q9UDC6	37	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	c	16.07	3.017679	0.54576	.	.	ENSG00000164867	ENST00000297494;ENST00000484524;ENST00000467517	T;T;T	0.26067	1.76;1.76;1.76	4.2	-0.186	0.13272	Nitric oxide synthase, oxygenase domain (1);	0.000000	0.44902	D	0.000418	T	0.33177	0.0854	L	0.43923	1.385	0.40527	D	0.980891	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	P;P;D;P	0.67725	0.771;0.876;0.953;0.905	T	0.12656	-1.0539	10	0.87932	D	0	-23.0284	6.1525	0.20320	0.4592:0.4455:0.0:0.0952	.	70;70;70;70	A0S0A6;E9PFR2;A0S0A8;P29474	.;.;.;NOS3_HUMAN	C	70	ENSP00000297494:R70C;ENSP00000420215:R70C;ENSP00000420551:R70C	ENSP00000297494:R70C	R	+	1	0	NOS3	150323273	0.008000	0.16893	0.966000	0.40874	0.698000	0.40448	0.878000	0.28126	0.300000	0.22699	-0.174000	0.13273	CGT	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351550.1		+	ENST00000484524.1	Missense_Mutation	SNP	7 : 150692340 - 150692340 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	206	23
TTN	7273	broad.mit.edu	37	2	179463744	179463744	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179463744C>T	ENST00000589042.1	-	291	56917	c.56693G>A	c.(56692-56694)cGt>cAt	p.R18898H	TTN_ENST00000460472.2_Missense_Mutation_p.R9833H|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R17257H|TTN_ENST00000359218.5_Missense_Mutation_p.R9958H|TTN_ENST00000342175.6_Missense_Mutation_p.R10025H|TTN_ENST00000342992.6_Missense_Mutation_p.R16330H|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17257	Ig-like 107.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATGGAGTTACGAGTCACGCT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	56	57			NA	NA	2		NA											NA				179463744		1883	4105	5988	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.56693G>A	2.37:g.179463744C>T	ENSP00000467141:p.Arg18898His	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908815	0.33721	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.98	5.98	0.97165	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41650	0.1168	L	0.27053	0.805	0.27011	N	0.964683	B;B;B;B	0.18863	0.031;0.031;0.031;0.031	B;B;B;B	0.17722	0.019;0.019;0.019;0.019	T	0.32693	-0.9897	9	0.87932	D	0	.	10.7507	0.46207	0.0:0.8595:0.0:0.1405	.	9833;9958;10025;17257	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	16330;9833;10025;9958;9831	ENSP00000343764:R16330H;ENSP00000434586:R9833H;ENSP00000340554:R10025H;ENSP00000352154:R9958H	ENSP00000340554:R10025H	R	-	2	0	TTN	179171989	0.955000	0.32602	1.000000	0.80357	0.996000	0.88848	1.826000	0.39092	2.843000	0.97960	0.650000	0.86243	CGT	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179463744 - 179463744 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	29
NOS2	4843	broad.mit.edu	37	17	26110096	26110096	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26110096C>T	ENST00000313735.6	-	6	737	c.504G>A	c.(502-504)gcG>gcA	p.A168A		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	168					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CCTTTGTTACCGCTTCCACCC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													254	179	205			NA	NA	17		NA											NA				26110096		2203	4300	6503	SO:0001819	synonymous_variant			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	4843	4843	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	nitric oxide synthase 2A (inducible, hepatocytes)	NOS2A	NA	7682706	Standard	NM_000625	NM_000625	NA	Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.504G>A	17.37:g.26110096C>T		NA	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	37	CCDS11223.1																																																																																			NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255597.1		-	ENST00000313735.6	Silent	SNP	17 : 26110096 - 26110096 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	466	68
CACNA1C	775	broad.mit.edu	37	12	2760913	2760913	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2760913G>A	ENST00000399655.1	+	32	4318	c.4053G>A	c.(4051-4053)tgG>tgA	p.W1351*	CACNA1C_ENST00000344100.3_Nonsense_Mutation_p.W1373*|CACNA1C_ENST00000347598.4_Nonsense_Mutation_p.W1399*|CACNA1C_ENST00000399595.1_Nonsense_Mutation_p.W1340*|CACNA1C_ENST00000399649.1_Nonsense_Mutation_p.W1338*|CACNA1C_ENST00000399634.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000327702.7_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399641.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399606.1_Nonsense_Mutation_p.W1371*|CACNA1C_ENST00000402845.3_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000335762.5_Nonsense_Mutation_p.W1376*|CACNA1C_ENST00000399637.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399638.1_Nonsense_Mutation_p.W1379*|CACNA1C_ENST00000399591.1_Nonsense_Mutation_p.W1340*|CACNA1C_ENST00000399597.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399629.1_Nonsense_Mutation_p.W1368*|CACNA1C_ENST00000399603.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000406454.3_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399621.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399617.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399644.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399601.1_Nonsense_Mutation_p.W1351*	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1399					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CGCTGCTGTGGACCTTCATCA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	53	50			NA	NA	12		NA											NA				2760913		2195	4295	6490	SO:0001587	stop_gained			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067	775	775		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1	NA	1650913, 16382099	Standard	NM_000719	NM_001129832	NA	Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000399655.1:c.4053G>A	12.37:g.2760913G>A	ENSP00000382563:p.Trp1351*	NA	B2RUT3|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	37	CCDS44794.1	.	.	.	.	.	.	.	.	.	.	G	42	9.355789	0.99147	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	.	.	.	5.17	4.27	0.50696	.	0.125129	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5755	0.61873	0.0758:0.0:0.9242:0.0	.	.	.	.	X	1376;1351;1351;1379;1351;1351;1351;1340;1351;1399;1371;1351;1373;1368;1351;1338;1351;1351;1351;1351;1351;1340;1181	.	ENSP00000323129:W1181X	W	+	3	0	CACNA1C	2631174	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.805000	0.99149	1.171000	0.42768	0.491000	0.48974	TGG	CACNA1C-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317019.2		+	ENST00000399655.1	Nonsense_Mutation	SNP	12 : 2760913 - 2760913 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	232	21
SRI	6717	broad.mit.edu	37	7	87838718	87838718	+	Silent	SNP	G	G	A	rs150714131	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87838718G>A	ENST00000265729.2	-	6	499	c.447C>T	c.(445-447)agC>agT	p.S149S	SRI_ENST00000394641.3_Silent_p.S134S|SRI_ENST00000419179.1_Silent_p.S109S|SRI_ENST00000490437.1_Silent_p.S106S|SRI_ENST00000431660.1_Silent_p.S134S	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN	sorcin	149	EF-hand 4.				heart development|intracellular sequestering of iron ion|muscle organ development|regulation of action potential|regulation of heart contraction|regulation of striated muscle contraction|signal transduction	sarcoplasmic reticulum membrane	calcium channel regulator activity|calcium ion binding|receptor binding			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(14;0.00202)					TTCCATTGGTGCTGTATCGTT	0.448		NA											G	5	0.0023	0.01	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0023	0.9906	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				0								G	,	4,4402	8.1+/-20.4	0,4,2199	191	159	170		447,402	4.1	1	7	dbSNP_134	170	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SRI	NM_003130.2,NM_198901.1	,	0,4,6499	AA,AG,GG	NA	0.0,0.0908,0.0308	,	149/199,134/184	87838718	4,13002	2203	4300	6503	SO:0001819	synonymous_variant			M32886	CCDS5612.1, CCDS47638.1, CCDS59063.1	7q21.1	2014-09-17			ENSG00000075142	ENSG00000075142	6717	6717		EF-hand domain containing	11292	protein-coding gene	gene with protein product		182520			NA	2901906	Standard	NM_003130	NM_001256891	NA	Approved		uc003ujq.2	P30626	OTTHUMG00000157267	ENST00000265729.2:c.447C>T	7.37:g.87838718G>A		NA	D6W5Q0	37	CCDS5612.1																																																																																			SRI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253680.1		-	ENST00000265729.2	Silent	SNP	7 : 87838718 - 87838718 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	82
JMJD1C	221037	broad.mit.edu	37	10	64968149	64968149	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64968149A>G	ENST00000399262.2	-	10	3498	c.3280T>C	c.(3280-3282)Ttc>Ctc	p.F1094L	JMJD1C_ENST00000399251.1_Missense_Mutation_p.F875L|JMJD1C_ENST00000402544.1_Missense_Mutation_p.F875L|JMJD1C_ENST00000542921.1_Missense_Mutation_p.F912L	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1094					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AATGTAGTGAAATAGTTACTT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													194	184	187			NA	NA	10		NA											NA				64968149		1879	4098	5977	SO:0001583	missense			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988	221037	221037			12313	protein-coding gene	gene with protein product		604503	thyroid hormone receptor interactor 8	TRIP8	NA	7776974	Standard	NM_004241	XM_005269624	NA	Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.3280T>C	10.37:g.64968149A>G	ENSP00000382204:p.Phe1094Leu	NA	Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	37	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.124391	0.77436	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.64085	0.27;-0.08;1.75;0.27	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.73877	0.3643	M	0.62723	1.935	0.80722	D	1	D;D;D	0.63880	0.993;0.993;0.993	P;P;P	0.58970	0.804;0.849;0.849	T	0.76987	-0.2755	10	0.72032	D	0.01	-8.319	15.7575	0.78046	1.0:0.0:0.0:0.0	.	635;1094;912	A6PW35;Q15652;A0T124	.;JHD2C_HUMAN;.	L	1094;875;875;912	ENSP00000382204:F1094L;ENSP00000384990:F875L;ENSP00000382195:F875L;ENSP00000444682:F912L	ENSP00000382195:F875L	F	-	1	0	JMJD1C	64638155	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.330000	0.96422	2.118000	0.64928	0.460000	0.39030	TTC	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048249.2		-	ENST00000399262.2	Missense_Mutation	SNP	10 : 64968149 - 64968149 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1111	231
LPO	4025	broad.mit.edu	37	17	56342265	56342265	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56342265G>T	ENST00000262290.4	+	10	1765	c.1449G>T	c.(1447-1449)caG>caT	p.Q483H	LPO_ENST00000421678.2_Missense_Mutation_p.Q400H|LPO_ENST00000543544.1_Missense_Mutation_p.Q424H|LPO_ENST00000582328.1_Missense_Mutation_p.Q400H	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	483					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						AGAATTATCAGCCATGGGGGC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	79	86			NA	NA	17		NA											NA				56342265		2203	4300	6503	SO:0001583	missense			M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	NA	4025	1.11.1.7		6678	protein-coding gene	gene with protein product		150205			NA	2222811, 8964511	Standard		NM_006151	NA	Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1449G>T	17.37:g.56342265G>T	ENSP00000262290:p.Gln483His	NA	Q13408|Q3KNQ2	37	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.020350	0.54576	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	T;T;T	0.73363	-0.74;-0.74;-0.74	6.17	3.16	0.36331	.	0.304519	0.34750	N	0.003712	T	0.76385	0.3980	M	0.72479	2.2	0.36809	D	0.885762	B;P	0.42735	0.452;0.788	B;P	0.46659	0.36;0.523	T	0.79848	-0.1630	10	0.72032	D	0.01	-13.7066	10.9003	0.47047	0.2004:0.0:0.7996:0.0	.	400;483	E7EMJ3;P22079	.;PERL_HUMAN	H	483;400;424;228	ENSP00000262290:Q483H;ENSP00000400245:Q400H;ENSP00000445344:Q424H	ENSP00000262290:Q483H	Q	+	3	2	LPO	53697264	0.467000	0.25831	0.997000	0.53966	0.980000	0.70556	0.126000	0.15769	0.500000	0.27991	0.655000	0.94253	CAG	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443961.1		+	ENST00000262290.4	Missense_Mutation	SNP	17 : 56342265 - 56342265 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	314	74
PAM16	51025	broad.mit.edu	37	16	4382440	4382440	+	Silent	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4382440C>G	ENST00000577031.1	-	5	322				GLIS2_ENST00000262366.3_Silent_p.G53G|GLIS2_ENST00000433375.1_Silent_p.G53G					presequence translocase-associated motor 16 homolog (S. cerevisiae)	NA										lung(3)	3						GCTCTCCAGGCTCCCCGCCCT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	24	24			NA	NA	16		NA											NA				4382440		2193	4295	6488	SO:0001627	intron_variant			AK026514	CCDS10512.1	16p13.3	2010-10-12	2010-10-12		ENSG00000217930	ENSG00000217930	51025	51025			29679	protein-coding gene	gene with protein product	mitochondria associated protein involved in granulocyte macrophage colony stimulating factor signal transduction	614336			NA	10810093, 11750097	Standard	NM_016069	NM_016069	NA	Approved	Magmas, Tim16, TIMM16		Q9Y3D7	OTTHUMG00000129466	ENST00000577031.1:c.292-665G>C	16.37:g.4382440C>G		NA		37																																																																																				PAM16-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000438314.1		-	ENST00000577031.1	Intron	SNP	16 : 4382440 - 4382440 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	117	34
PSMF1	9491	broad.mit.edu	37	20	1144966	1144966	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1144966C>T	ENST00000335877.6	+	6	786	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000333082.3_Missense_Mutation_p.R204W|PSMF1_ENST00000438768.2_Missense_Mutation_p.R142W|PSMF1_ENST00000381898.4_Missense_Mutation_p.R116W|PSMF1_ENST00000246015.4_Missense_Mutation_p.R204W	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	204	Pro-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						CCTCAGGCCTCGGAGAGGTGG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	225	233	230		610,610	5.9	1	20		230	0,8600		0,0,4300	no	missense,missense	PSMF1	NM_006814.3,NM_178578.2	101,101	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging	204/272,204/272	1144966	1,13005	2203	4300	6503	SO:0001583	missense			D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818	9491	9491		Proteasome (prosome, macropain) subunits	9571	protein-coding gene	gene with protein product	proteasome inhibitor hP131 subunit				NA	10363639	Standard	NM_178578	NM_006814	NA	Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.610C>T	20.37:g.1144966C>T	ENSP00000338039:p.Arg204Trp	NA	A0AVQ9|D3DVW3|Q9H4I1	37	CCDS13010.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.80|17.80	3.477537|3.477537	0.63849|0.63849	2.27E-4|2.27E-4	0.0|0.0	ENSG00000125818|ENSG00000125818	ENST00000333082;ENST00000381898;ENST00000454500;ENST00000246015;ENST00000335877;ENST00000438768|ENST00000435720	T;T;T;T;T|.	0.48836|.	1.45;0.8;1.45;1.45;0.85|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.135451|.	0.49916|.	D|.	0.000136|.	T|T	0.70116|0.70116	0.3187|0.3187	L|L	0.50333|0.50333	1.59|1.59	0.43347|0.43347	D|D	0.995403|0.995403	D;D;D;D;D|.	0.76494|.	0.998;0.998;0.999;0.998;0.998|.	P;P;P;P;P|.	0.60609|.	0.828;0.736;0.877;0.828;0.745|.	T|T	0.64939|0.64939	-0.6289|-0.6289	10|5	0.66056|.	D|.	0.02|.	-3.1599|-3.1599	18.1736|18.1736	0.89754|0.89754	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	142;116;116;204;204|.	E7ER20;F5H4Z3;B4DUJ0;Q5QPM7;Q92530|.	.;.;.;.;PSMF1_HUMAN|.	W|L	204;116;98;204;204;142|45	ENSP00000327704:R204W;ENSP00000371323:R116W;ENSP00000246015:R204W;ENSP00000338039:R204W;ENSP00000401404:R142W|.	ENSP00000246015:R204W|.	R|S	+|+	1|2	2|0	PSMF1|PSMF1	1092966|1092966	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.376000|0.376000	0.30014|0.30014	2.633000|2.633000	0.46519|0.46519	2.825000|2.825000	0.97269|0.97269	0.655000|0.655000	0.94253|0.94253	CGG|TCG	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077504.2		+	ENST00000335877.6	Missense_Mutation	SNP	20 : 1144966 - 1144966 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1676	301
PTPRS	5802	broad.mit.edu	37	19	5208314	5208314	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5208314A>G	ENST00000587303.1	-	35	5675	c.5576T>C	c.(5575-5577)tTc>tCc	p.F1859S	PTPRS_ENST00000588012.1_Missense_Mutation_p.F1821S|PTPRS_ENST00000357368.4_Missense_Mutation_p.F1859S|PTPRS_ENST00000348075.2_Missense_Mutation_p.F1821S|PTPRS_ENST00000592099.1_Missense_Mutation_p.F1412S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000353284.2_Missense_Mutation_p.F1412S|PTPRS_ENST00000372412.4_Missense_Mutation_p.F1860S|PTPRS_ENST00000262963.6_Missense_Mutation_p.F1839S			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1859	Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TTGGCCAATGAAGTCGATGAA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	104	109			NA	NA	19		NA											NA				5208314		2203	4300	6503	SO:0001583	missense			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426	5802	5802		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	9681	protein-coding gene	gene with protein product		601576			NA	8954782, 8524829	Standard		NM_002850	NA	Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.5576T>C	19.37:g.5208314A>G	ENSP00000467537:p.Phe1859Ser	NA	O75255|O75870|Q15718|Q16341|Q2M3R7	37	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	a	16.08	3.021149	0.54576	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16	2.89	2.89	0.33648	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.64402	U	0.000001	T	0.56963	0.2021	H	0.97186	3.955	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;0.994;1.0;0.997;1.0;0.999	T	0.68364	-0.5428	10	0.87932	D	0	.	10.2806	0.43537	1.0:0.0:0.0:0.0	.	1441;1412;1416;1821;1859;1454	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	S	1454;1860;1859;1859;1850;1839;1821;1441;1416;1412	ENSP00000361489:F1860S;ENSP00000349932:F1859S;ENSP00000262963:F1839S;ENSP00000269907:F1821S;ENSP00000327313:F1412S	ENSP00000262963:F1839S	F	-	2	0	PTPRS	5159314	1.000000	0.71417	1.000000	0.80357	0.443000	0.32047	8.946000	0.92992	1.199000	0.43173	0.235000	0.17854	TTC	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450762.2		-	ENST00000587303.1	Missense_Mutation	SNP	19 : 5208314 - 5208314 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	287	46
PDE10A	10846	broad.mit.edu	37	6	165749634	165749634	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165749634C>T	ENST00000366882.1	-	22	2369	c.2215G>A	c.(2215-2217)Gag>Aag	p.E739K	PDE10A_ENST00000354448.4_Missense_Mutation_p.E739K|PDE10A_ENST00000539869.2_Missense_Mutation_p.E749K			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	739					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	AGAAGAGGCTCCGTGGGAGGG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(22;308 615 5753 12038 40624)							NA				0													94	88	90			NA	NA	6		NA											NA				165749634		2203	4300	6503	SO:0001583	missense			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	10846	10846	3.1.4.17	Phosphodiesterases	8772	protein-coding gene	gene with protein product		610652			NA	10373451	Standard		NM_001130690	NA	Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.2215G>A	6.37:g.165749634C>T	ENSP00000355847:p.Glu739Lys	NA	Q6FHX1|Q9HCP9|Q9NTV4|Q9Y5T1	37		.	.	.	.	.	.	.	.	.	.	C	6.089	0.384630	0.11524	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.76578	-1.03;-1.03	5.4	5.4	0.78164	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.307106	0.39909	N	0.001232	T	0.39572	0.1083	N	0.11789	0.175	0.22918	N	0.998562	B;B	0.18013	0.025;0.0	B;B	0.15484	0.013;0.002	T	0.05767	-1.0865	10	0.07325	T	0.83	.	15.0715	0.72040	0.0:0.8585:0.1415:0.0	.	749;739	Q9ULW9;Q9Y233	.;PDE10_HUMAN	K	739;767;749;739;738	ENSP00000355847:E739K;ENSP00000346435:E739K	ENSP00000341187:E749K	E	-	1	0	PDE10A	165669624	0.766000	0.28496	0.470000	0.27216	0.695000	0.40330	1.776000	0.38594	2.681000	0.91329	0.655000	0.94253	GAG	PDE10A-001	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000043031.1		-	ENST00000366882.1	Missense_Mutation	SNP	6 : 165749634 - 165749634 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	189	28
SCFD2	152579	broad.mit.edu	37	4	54231417	54231417	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54231417C>T	ENST00000401642.3	-	1	825	c.692G>A	c.(691-693)gGa>gAa	p.G231E	SCFD2_ENST00000388940.4_Missense_Mutation_p.G231E	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	231					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CTCCCGTACTCCTAAATGTTC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	114	117			NA	NA	4		NA											NA				54231417		2203	4300	6503	SO:0001583	missense			AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178	152579	152579			30676	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152540	NM_152540	NA	Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.692G>A	4.37:g.54231417C>T	ENSP00000384182:p.Gly231Glu	NA	Q8N5F3|Q8N8H0|Q96ED3	37	CCDS33984.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.732558	0.69189	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	D;D	0.83163	-1.69;-1.69	5.51	5.51	0.81932	.	0.050423	0.85682	D	0.000000	D	0.89298	0.6675	M	0.62723	1.935	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.976	D	0.86623	0.1880	10	0.30854	T	0.27	.	16.9624	0.86275	0.0:1.0:0.0:0.0	.	231;231	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	E	231	ENSP00000384182:G231E;ENSP00000373592:G231E	ENSP00000373592:G231E	G	-	2	0	SCFD2	53926174	0.428000	0.25522	0.953000	0.39169	0.317000	0.28152	1.947000	0.40293	2.873000	0.98535	0.561000	0.74099	GGA	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361311.3		-	ENST00000401642.3	Missense_Mutation	SNP	4 : 54231417 - 54231417 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	543	106
AKAP9	10142	broad.mit.edu	37	7	91631371	91631371	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91631371T>A	ENST00000356239.3	+	8	2373	c.2140T>A	c.(2140-2142)Tca>Aca	p.S714T	AKAP9_ENST00000358100.2_Missense_Mutation_p.S726T|AKAP9_ENST00000359028.2_Missense_Mutation_p.S726T	NM_005751.4|NM_147185.2	NP_005742.4|NP_671714.1	Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	726	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAATTCAAAGTCAGAAGAAAT	0.299		NA	T	BRAF	papillary thyroid									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													20	22	21			NA	NA	7		NA											NA				91631371		2007	4204	6211	SO:0001583	missense			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914	10142	10142		A-kinase anchor proteins, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	379	protein-coding gene	gene with protein product	A-kinase anchoring protein 450, AKAP9-BRAF fusion protein, AKAP120-like protein, centrosome- and golgi-localized protein kinase N-associated protein, protein kinase A anchoring protein 9, A-kinase anchor protein, 350kDa, protein phosphatase 1, regulatory subunit 45, yotiao	604001			NA	9482789, 10390370, 24475373	Standard	NM_005751	NM_147185	NA	Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000356239.3:c.2140T>A	7.37:g.91631371T>A	ENSP00000348573:p.Ser714Thr	NA	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	37	CCDS5622.1	.	.	.	.	.	.	.	.	.	.	T	12.01	1.809990	0.31961	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.50813	0.73;0.73;0.73	5.62	4.39	0.52855	.	0.000000	0.35151	N	0.003401	T	0.51261	0.1664	L	0.27053	0.805	0.39583	D	0.969461	P;P;D;P	0.69078	0.63;0.862;0.997;0.952	B;P;D;P	0.66196	0.365;0.646;0.942;0.699	T	0.49799	-0.8901	10	0.33940	T	0.23	.	12.6987	0.57018	0.0:0.0:0.1373:0.8627	.	726;714;714;726	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	T	714;726;726;726;726	ENSP00000348573:S714T;ENSP00000351922:S726T;ENSP00000350813:S726T	ENSP00000348573:S714T	S	+	1	0	AKAP9	91469307	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.939000	0.40213	2.276000	0.75962	0.529000	0.55759	TCA	AKAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253808.2		+	ENST00000356239.3	Missense_Mutation	SNP	7 : 91631371 - 91631371 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	168	33
DGCR2	9993	broad.mit.edu	37	22	19076975	19076975	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19076975C>T	ENST00000263196.7	-	2	355	c.108G>A	c.(106-108)gcG>gcA	p.A36A	DGCR2_ENST00000545799.1_Silent_p.A36A|DGCR2_ENST00000537045.1_Intron	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	36	LDL-receptor class A.				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CGCTGCGACACGCAAACTGCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	57	62			NA	NA	22		NA											NA				19076975		2203	4300	6503	SO:0001819	synonymous_variant			D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413	9993	9993			2845	protein-coding gene	gene with protein product	integral membrane protein DGCR2	600594			NA	7655455, 8630060	Standard	NM_005137	NM_005137	NA	Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.108G>A	22.37:g.19076975C>T		NA	A6NIB5|A8K6K5	37	CCDS33598.1																																																																																			DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316504.1		-	ENST00000263196.7	Silent	SNP	22 : 19076975 - 19076975 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	72
PTGDR	5729	broad.mit.edu	37	14	52735331	52735331	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52735331C>A	ENST00000553372.1	+	1	802	c.799C>A	c.(799-801)Ctg>Atg	p.L267M	PTGDR_ENST00000306051.2_Missense_Mutation_p.L267M			Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	267						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CCTCCTGCTGCTGGCGCTGAT	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	102	102			NA	NA	14		NA											NA				52735331		2180	4253	6433	SO:0001583	missense			U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229	5729	5729		GPCR / Class A : Prostanoid receptors	9591	protein-coding gene	gene with protein product		604687			NA	7642548	Standard	NM_000953	NM_000953	NA	Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000553372.1:c.799C>A	14.37:g.52735331C>A	ENSP00000452408:p.Leu267Met	NA	Q13250|Q13251|Q1ZZ52	37		.	.	.	.	.	.	.	.	.	.	C	16.82	3.227231	0.58668	.	.	ENSG00000168229	ENST00000306051;ENST00000553372	T;T	0.50001	0.76;0.76	4.38	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38005	N	0.001857	T	0.61689	0.2367	M	0.73962	2.25	0.41178	D	0.986219	D	0.65815	0.995	D	0.77557	0.99	T	0.60120	-0.7325	10	0.21540	T	0.41	-19.3755	8.2922	0.31965	0.0:0.8143:0.0:0.1857	.	267	Q13258	PD2R_HUMAN	M	267	ENSP00000303424:L267M;ENSP00000452408:L267M	ENSP00000303424:L267M	L	+	1	2	PTGDR	51805081	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	1.922000	0.40045	1.431000	0.47355	0.563000	0.77884	CTG	PTGDR-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000411614.1		+	ENST00000553372.1	Missense_Mutation	SNP	14 : 52735331 - 52735331 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1332	279
TOM1L2	146691	broad.mit.edu	37	17	17764838	17764838	+	Silent	SNP	G	G	A	rs117929409	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17764838G>A	ENST00000535933.1	-	11	1177	c.1071C>T	c.(1069-1071)gtC>gtT	p.V357V	TOM1L2_ENST00000395739.4_Silent_p.V365V|TOM1L2_ENST00000581396.1_Silent_p.V360V|TOM1L2_ENST00000542206.1_Silent_p.V262V|TOM1L2_ENST00000379504.3_Silent_p.V410V|TOM1L2_ENST00000318094.10_Silent_p.V365V|TOM1L2_ENST00000540946.1_Silent_p.V312V|TOM1L2_ENST00000478943.1_Silent_p.V143V			Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	410					intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					CAAGTCCTCCGACAGCCTGAG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(192;2505 2909 14455 25269)							NA				0													87	81	83			NA	NA	17		NA											NA				17764838		2203	4300	6503	SO:0001819	synonymous_variant			AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662	146691	146691			11984	protein-coding gene	gene with protein product		615519	target of myb1 (chicken) homolog-like 1		NA	10036180	Standard		NM_001082968	NA	Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000535933.1:c.1071C>T	17.37:g.17764838G>A		NA	B7Z7F4|Q86V61|Q8TDE7|Q96M88	37																																																																																				TOM1L2-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000443248.1		-	ENST00000535933.1	Silent	SNP	17 : 17764838 - 17764838 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	287	26
UFSP2	55325	broad.mit.edu	37	4	186329545	186329545	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186329545C>A	ENST00000264689.6	-	8	992	c.876G>T	c.(874-876)caG>caT	p.Q292H		NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	292						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		CTATGCGATCCTGCATATAAT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	101	105			NA	NA	4		NA											NA				186329545		2203	4300	6503	SO:0001583	missense			AK002062	CCDS3842.1	4q35.1	2008-03-25	2008-03-25	2008-03-25	ENSG00000109775	ENSG00000109775	55325	55325			25640	protein-coding gene	gene with protein product		611482	chromosome 4 open reading frame 20	C4orf20	NA	17182609	Standard	NM_018359	NM_018359	NA	Approved	FLJ11200	uc003ixo.2	Q9NUQ7	OTTHUMG00000160441	ENST00000264689.6:c.876G>T	4.37:g.186329545C>A	ENSP00000264689:p.Gln292His	NA	Q6IA77|Q96FS3	37	CCDS3842.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	11.55|11.55|11.55	1.672574|1.672574|1.672574	0.29693|0.29693|0.29693	.|.|.	.|.|.	ENSG00000109775|ENSG00000109775|ENSG00000109775	ENST00000511485|ENST00000264689|ENST00000509180	.|T|.	.|0.31769|.	.|1.48|.	6.03|6.03|6.03	1.59|1.59|1.59	0.23543|0.23543|0.23543	.|.|.	.|0.132090|.	.|0.64402|.	.|D|.	.|0.000018|.	.|T|T	.|0.74238|0.74238	.|0.3690|0.3690	M|M|M	0.87758|0.87758|0.87758	2.905|2.905|2.905	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D|.	.|0.89917|.	.|1.0|.	.|D|.	.|0.97110|.	.|1.0|.	.|T|T	.|0.71935|0.71935	.|-0.4442|-0.4442	.|10|5	.|0.25751|.	.|T|.	.|0.34|.	.|-3.6114|-3.6114	9.224|9.224|9.224	0.37395|0.37395|0.37395	0.0:0.5392:0.0:0.4608|0.0:0.5392:0.0:0.4608|0.0:0.5392:0.0:0.4608	.|.|.	.|292|.	.|Q9NUQ7|.	.|UFSP2_HUMAN|.	.|H|M	-1|292|21	.|ENSP00000264689:Q292H|.	.|ENSP00000264689:Q292H|.	.|Q|R	-|-|-	.|3|2	.|2|0	UFSP2|UFSP2|UFSP2	186566539|186566539|186566539	0.952000|0.952000|0.952000	0.32445|0.32445|0.32445	0.981000|0.981000|0.981000	0.43875|0.43875|0.43875	0.444000|0.444000|0.444000	0.32077|0.32077|0.32077	0.132000|0.132000|0.132000	0.15891|0.15891|0.15891	-0.039000|-0.039000|-0.039000	0.13602|0.13602|0.13602	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	.|CAG|AGG	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360589.2		-	ENST00000264689.6	Missense_Mutation	SNP	4 : 186329545 - 186329545 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	423	78
ADAMTS8	11095	broad.mit.edu	37	11	130281332	130281332	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130281332G>A	ENST00000257359.6	-	6	2436	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	577	TSP type-1 1.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	p.T577M(1)|p.T606M(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GCATTCCTCCGTGTGGCATGA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	pancreas(2)						G	MET/THR	1,3979		0,1,1989	76	80	79		1730	4.7	0.9	11		79	0,8294		0,0,4147	no	missense	ADAMTS8	NM_007037.4	81	0,1,6136	AA,AG,GG	NA	0.0,0.0251,0.0081	probably-damaging	577/890	130281332	1,12273	1990	4147	6137	SO:0001583	missense			AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917	11095	11095		ADAM metallopeptidases with thrombospondin type 1 motif	224	protein-coding gene	gene with protein product		605175	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8		NA	10438512	Standard	NM_007037	NM_007037	NA	Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1730C>T	11.37:g.130281332G>A	ENSP00000257359:p.Thr577Met	NA	Q9NZS0	37	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470947	0.63625	2.51E-4	0.0	ENSG00000134917	ENST00000257359;ENST00000414575	T	0.05649	3.41	5.58	4.67	0.58626	.	0.093473	0.64402	D	0.000001	T	0.25901	0.0631	M	0.86097	2.795	0.51767	D	0.999936	D;D	0.89917	1.0;0.998	D;D	0.72982	0.979;0.973	T	0.01879	-1.1255	10	0.66056	D	0.02	.	10.8882	0.46978	0.1444:0.0:0.8556:0.0	.	577;58	Q9UP79;B3KVX9	ATS8_HUMAN;.	M	577;606	ENSP00000257359:T577M	ENSP00000257359:T577M	T	-	2	0	ADAMTS8	129786542	1.000000	0.71417	0.917000	0.36280	0.651000	0.38670	3.050000	0.49877	1.502000	0.48669	0.591000	0.81541	ACG	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385636.1		-	ENST00000257359.6	Missense_Mutation	SNP	11 : 130281332 - 130281332 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	412	43
RHOT2	89941	broad.mit.edu	37	16	721923	721923	+	Missense_Mutation	SNP	C	C	T	rs113238749		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:721923C>T	ENST00000315082.4	+	13	1132	c.1018C>T	c.(1018-1020)Ccc>Tcc	p.P340S		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	340					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CCCAGCAGCGCCCTGGGGCCC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	SER/PRO	0,4400		0,0,2200	51	63	59		1018	5.3	1	16	dbSNP_132	59	1,8587	1.2+/-3.3	0,1,4293	no	missense	RHOT2	NM_138769.1	74	0,1,6493	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	340/619	721923	1,12987	2200	4294	6494	SO:0001583	missense			BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983	89941	89941		EF-hand domain containing	21169	protein-coding gene	gene with protein product	mitochondrial Rho (MIRO) GTPase 2	613889	chromosome 16 open reading frame 39, ras homolog gene family, member T2	C16orf39, ARHT2	NA	12482879	Standard	NM_138769	NM_138769	NA	Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.1018C>T	16.37:g.721923C>T	ENSP00000321971:p.Pro340Ser	NA	A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	37	CCDS10417.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001027	0.93227	0.0	1.16E-4	ENSG00000140983	ENST00000315082	T	0.09073	3.02	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.33818	0.0876	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.11155	-1.0599	10	0.72032	D	0.01	-3.178	17.5876	0.87987	0.0:1.0:0.0:0.0	.	340	Q8IXI1	MIRO2_HUMAN	S	340	ENSP00000321971:P340S	ENSP00000321971:P340S	P	+	1	0	RHOT2	661924	1.000000	0.71417	0.974000	0.42286	0.702000	0.40608	7.697000	0.84279	2.503000	0.84419	0.456000	0.33151	CCC	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000241617.1		+	ENST00000315082.4	Missense_Mutation	SNP	16 : 721923 - 721923 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	802	142
KLF17	128209	broad.mit.edu	37	1	44595709	44595709	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44595709G>A	ENST00000372299.3	+	2	824	c.766G>A	c.(766-768)Gga>Aga	p.G256R	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	256					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					AGAGCAGCCCGGACCTGCTCC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								A	ARG/GLY	0,4406		0,0,2203	54	58	57		766	-0.4	0	1		57	1,8599	818.0+/-406.9	0,1,4299	no	missense	KLF17	NM_173484.3	125	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	256/390	44595709	1,13005	2203	4300	6503	SO:0001583	missense			BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872	128209	128209		Zinc fingers, C2H2-type, Kruppel-like transcription factors	18830	protein-coding gene	gene with protein product		609602	zinc finger protein 393	ZNF393	NA	16460907	Standard	NM_173484	NM_173484	NA	Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.766G>A	1.37:g.44595709G>A	ENSP00000361373:p.Gly256Arg	NA	Q86VQ7|Q8N805	37	CCDS508.1	.	.	.	.	.	.	.	.	.	.	A	4.245	0.044501	0.08196	0.0	1.16E-4	ENSG00000171872	ENST00000372299	T	0.10763	2.84	4.65	-0.406	0.12389	.	1.149600	0.06340	N	0.707762	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43491	-0.9388	10	0.11794	T	0.64	.	3.4088	0.07351	0.4837:0.0:0.1661:0.3502	.	256	Q5JT82	KLF17_HUMAN	R	256	ENSP00000361373:G256R	ENSP00000361373:G256R	G	+	1	0	KLF17	44368296	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.802000	0.04545	-0.325000	0.08577	-0.381000	0.06696	GGA	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026646.1		+	ENST00000372299.3	Missense_Mutation	SNP	1 : 44595709 - 44595709 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	39
BAI3	577	broad.mit.edu	37	6	69949063	69949063	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:69949063C>T	ENST00000370598.1	+	20	3580	c.2759C>T	c.(2758-2760)tCt>tTt	p.S920F	BAI3_ENST00000238918.8_Missense_Mutation_p.S126F	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	920					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTCTGCCTGTCTATCATCTCA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													183	177	179			NA	NA	6		NA											NA				69949063		2203	4298	6501	SO:0001583	missense			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298	577	577		-, GPCR / Class B : Orphans	945	protein-coding gene	gene with protein product		602684			NA	9533023	Standard		NM_001704	NA	Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2759C>T	6.37:g.69949063C>T	ENSP00000359630:p.Ser920Phe	NA	O60297|Q2NKN6|Q5VY37|Q9BX54	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722341	0.89298	.	.	ENSG00000135298	ENST00000370598;ENST00000238918	T;T	0.55413	0.52;0.52	5.12	5.12	0.69794	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.73434	0.3586	M	0.86953	2.85	0.80722	D	1	D;D;D	0.89917	0.997;0.996;1.0	D;D;D	0.91635	0.996;0.99;0.999	T	0.79366	-0.1833	10	0.87932	D	0	.	18.5605	0.91098	0.0:1.0:0.0:0.0	.	126;920;920	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	F	920;126	ENSP00000359630:S920F;ENSP00000238918:S126F	ENSP00000238918:S126F	S	+	2	0	BAI3	70005784	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.362000	0.80069	0.655000	0.94253	TCT	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041120.1		+	ENST00000370598.1	Missense_Mutation	SNP	6 : 69949063 - 69949063 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	736	119
PADI2	11240	broad.mit.edu	37	1	17410236	17410236	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17410236G>A	ENST00000375486.4	-	9	1098	c.1035C>T	c.(1033-1035)ggC>ggT	p.G345G	PADI2_ENST00000444885.2_Silent_p.G229G|PADI2_ENST00000375481.1_Silent_p.G345G	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	345					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TCCAGCGATCGCCTCGGTTTA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	112	114			NA	NA	1		NA											NA				17410236		2203	4300	6503	SO:0001819	synonymous_variant			AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	11240	11240	3.5.3.15	Peptidyl arginine deiminases	18341	protein-coding gene	gene with protein product		607935			NA	2768262	Standard		NM_007365	NA	Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.1035C>T	1.37:g.17410236G>A		NA	Q9UPN2	37	CCDS177.1																																																																																			PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006624.1		-	ENST00000375486.4	Silent	SNP	1 : 17410236 - 17410236 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	454	56
DSP	1832	broad.mit.edu	37	6	7583025	7583025	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7583025G>A	ENST00000379802.3	+	24	5871	c.5530G>A	c.(5530-5532)Gag>Aag	p.E1844K	DSP_ENST00000418664.2_Missense_Mutation_p.E1245K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1844	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATCAACTCTAGAGGCAGAAAC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	111	110			NA	NA	6		NA											NA				7583025		2203	4300	6503	SO:0001583	missense			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696	1832	1832			3052	protein-coding gene	gene with protein product		125647	desmoplakin (DPI, DPII)		NA	1889810	Standard	NM_004415	NM_004415	NA	Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.5530G>A	6.37:g.7583025G>A	ENSP00000369129:p.Glu1844Lys	NA	B2RTT2|O75993|Q14189|Q9UHN4	37	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765989	0.69878	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.66815	-0.23;-0.23	5.2	5.2	0.72013	.	0.103621	0.41823	D	0.000808	T	0.58538	0.2129	N	0.16903	0.455	0.31119	N	0.709018	D;B	0.76494	0.999;0.247	P;B	0.60541	0.876;0.091	T	0.60772	-0.7197	10	0.41790	T	0.15	.	18.7596	0.91845	0.0:0.0:1.0:0.0	.	1292;1844	Q4LE79;P15924	.;DESP_HUMAN	K	1844;1245	ENSP00000369129:E1844K;ENSP00000396591:E1245K	ENSP00000369129:E1844K	E	+	1	0	DSP	7528024	1.000000	0.71417	0.145000	0.22337	0.902000	0.53008	9.860000	0.99555	2.410000	0.81850	0.650000	0.86243	GAG	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039786.2		+	ENST00000379802.3	Missense_Mutation	SNP	6 : 7583025 - 7583025 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	664	115
HK2	3099	broad.mit.edu	37	2	75105841	75105841	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:75105841G>A	ENST00000409174.1	+	9	1164	c.974G>A	c.(973-975)cGt>cAt	p.R325H	HK2_ENST00000290573.2_Missense_Mutation_p.R353H			P52789	HXK2_HUMAN	hexokinase 2	353	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CGGAAGGCCCGTGAGGTCCTG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	26	29			NA	NA	2		NA											NA				75105841		2199	4297	6496	SO:0001583	missense				CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	3099	3099	2.7.1.1		4923	protein-coding gene	gene with protein product		601125			NA		Standard	NM_000189	NM_000189	NA	Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000409174.1:c.974G>A	2.37:g.75105841G>A	ENSP00000387140:p.Arg325His	NA	D6W5J2|Q8WU87|Q9UN82	37		.	.	.	.	.	.	.	.	.	.	G	11.92	1.782262	0.31502	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.96651	-4.08;-4.08	4.65	-3.72	0.04411	Hexokinase, C-terminal (1);	0.722806	0.14247	N	0.331688	D	0.91078	0.7192	L	0.55834	1.745	0.09310	N	1	B	0.27656	0.184	B	0.27076	0.076	T	0.81217	-0.1033	10	0.13108	T	0.6	-1.6936	4.6862	0.12758	0.5194:0.0:0.2105:0.2701	.	353	P52789	HXK2_HUMAN	H	353;353;325	ENSP00000290573:R353H;ENSP00000387140:R325H	ENSP00000290573:R353H	R	+	2	0	HK2	74959349	0.000000	0.05858	0.043000	0.18650	0.971000	0.66376	0.535000	0.23114	-0.466000	0.06943	0.655000	0.94253	CGT	HK2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000328629.4		+	ENST00000409174.1	Missense_Mutation	SNP	2 : 75105841 - 75105841 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	89	31
SALL4	57167	broad.mit.edu	37	20	50405543	50405543	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50405543C>T	ENST00000395997.3	-	3	1354	c.1288G>A	c.(1288-1290)Gcc>Acc	p.A430T	SALL4_ENST00000217086.4_Missense_Mutation_p.A867T|SALL4_ENST00000371539.3_Missense_Mutation_p.A90T			Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	385					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGTTGCTTGGCCTGTCGGCGT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	54	57			NA	NA	20		NA											NA				50405543		2203	4300	6503	SO:0001583	missense			AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115	57167	57167		Zinc fingers, C2H2-type	15924	protein-coding gene	gene with protein product		607343	sal (Drosophila)-like 4, sal-like 4 (Drosophila)		NA		Standard		NM_020436	NA	Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000395997.3:c.1288G>A	20.37:g.50405543C>T	ENSP00000379319:p.Ala430Thr	NA	Q540H3	37		.	.	.	.	.	.	.	.	.	.	C	16.42	3.119256	0.56505	.	.	ENSG00000101115	ENST00000217086;ENST00000395997;ENST00000371539	T;T;T	0.09163	3.01;3.21;3.24	5.73	4.79	0.61399	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.332661	0.22021	N	0.065740	T	0.13586	0.0329	L	0.47190	1.495	0.42929	D	0.994317	B;P;P	0.48294	0.028;0.791;0.908	B;B;P	0.45406	0.02;0.196;0.479	T	0.11372	-1.0590	10	0.18710	T	0.47	-16.0971	14.6039	0.68463	0.0:0.9296:0.0:0.0704	.	430;90;867	A2A2D8;Q6Y8G5;Q9UJQ4	.;.;SALL4_HUMAN	T	867;430;90	ENSP00000217086:A867T;ENSP00000379319:A430T;ENSP00000360594:A90T	ENSP00000217086:A867T	A	-	1	0	SALL4	49838950	0.897000	0.30589	1.000000	0.80357	0.996000	0.88848	1.537000	0.36083	1.413000	0.46997	0.655000	0.94253	GCC	SALL4-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000258918.2		-	ENST00000395997.3	Missense_Mutation	SNP	20 : 50405543 - 50405543 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	55
PPFIA1	8500	broad.mit.edu	37	11	70170552	70170552	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70170552G>A	ENST00000253925.7	+	3	524	c.309G>A	c.(307-309)caG>caA	p.Q103Q	PPFIA1_ENST00000389547.3_Silent_p.Q103Q|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	103					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GCAGGGAACAGCTCCTTGAAA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	138	137			NA	NA	11		NA											NA				70170552		2200	4294	6494	SO:0001819	synonymous_variant			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626	8500	8500		Sterile alpha motif (SAM) domain containing	9245	protein-coding gene	gene with protein product	Liprin-alpha1	611054			NA	7796809, 9624153	Standard	NM_003626	NM_003626	NA	Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.309G>A	11.37:g.70170552G>A		NA	A6NLE3|Q13135|Q14567|Q8N4I2	37	CCDS31627.1																																																																																			PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393905.1		+	ENST00000253925.7	Silent	SNP	11 : 70170552 - 70170552 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	912	40
FCGBP	8857	broad.mit.edu	37	19	40433172	40433172	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40433172G>A	ENST00000221347.6	-	2	1104	c.1097C>T	c.(1096-1098)gCt>gTt	p.A366V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	366	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCCGCTGATAGCCTTCGTCTG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA	1,4405		0,1,2202	111	82	92		1097	0.9	0	19		92	0,8600		0,0,4300	no	missense	FCGBP	NM_003890.2	64	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	possibly-damaging	366/5406	40433172	1,13005	2203	4300	6503	SO:0001583	missense			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395	8857	8857			13572	protein-coding gene	gene with protein product	IgG Fc binding protein, Human Fc gamma BP				NA	9182547	Standard	NM_003890	NM_003890	NA	Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.1097C>T	19.37:g.40433172G>A	ENSP00000221347:p.Ala366Val	NA	O95784	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962481	0.53400	2.27E-4	0.0	ENSG00000090920	ENST00000221347	T	0.19250	2.16	4.36	0.89	0.19218	.	0.618007	0.13024	N	0.419844	T	0.10508	0.0257	N	0.08118	0	0.09310	N	1	D	0.53151	0.958	B	0.42386	0.386	T	0.17806	-1.0357	10	0.56958	D	0.05	.	7.6149	0.28152	0.0814:0.0:0.6274:0.2912	.	366	Q9Y6R7	FCGBP_HUMAN	V	366	ENSP00000221347:A366V	ENSP00000221347:A366V	A	-	2	0	FCGBP	45125012	0.000000	0.05858	0.006000	0.13384	0.013000	0.08279	0.378000	0.20569	0.305000	0.22832	0.655000	0.94253	GCT	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462507.1		-	ENST00000221347.6	Missense_Mutation	SNP	19 : 40433172 - 40433172 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	291	18
CHD8	57680	broad.mit.edu	37	14	21894391	21894391	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21894391G>A	ENST00000557364.1	-	5	1875	c.1612C>T	c.(1612-1614)Cct>Tct	p.P538S	CHD8_ENST00000430710.3_Missense_Mutation_p.P259S|CHD8_ENST00000399982.2_Missense_Mutation_p.P538S|CHD8_ENST00000555962.1_Intron			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	538					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCCACTACAGGAGTGATGGTG	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	72	76			NA	NA	14		NA											NA				21894391		1856	4105	5961	SO:0001583	missense			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888	57680	57680			20153	protein-coding gene	gene with protein product		610528	helicase with SNF2 domain 1	HELSNF1	NA	10997877	Standard	NM_020920	NM_020920	NA	Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.1612C>T	14.37:g.21894391G>A	ENSP00000451601:p.Pro538Ser	NA	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	37	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874985	0.51695	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.88818	-2.4;-2.43;-2.43	5.58	5.58	0.84498	.	0.060955	0.64402	D	0.000002	D	0.86322	0.5905	N	0.19112	0.55	0.50632	D	0.999885	P	0.50443	0.935	P	0.52881	0.712	T	0.82647	-0.0354	10	0.10636	T	0.68	-11.8128	18.349	0.90331	0.0:0.0:1.0:0.0	.	259	Q9HCK8-2	.	S	259;538;258;538	ENSP00000406288:P259S;ENSP00000382863:P538S;ENSP00000451601:P538S	ENSP00000262707:P258S	P	-	1	0	CHD8	20964231	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.898000	0.75676	2.625000	0.88918	0.591000	0.81541	CCT	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410436.1		-	ENST00000557364.1	Missense_Mutation	SNP	14 : 21894391 - 21894391 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	90	9
MMRN1	22915	broad.mit.edu	37	4	90856522	90856522	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90856522T>C	ENST00000508372.1	+	6	1201	c.917T>C	c.(916-918)tTt>tCt	p.F306S	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000394980.1_Missense_Mutation_p.F564S|MMRN1_ENST00000264790.2_Missense_Mutation_p.F564S			Q13201	MMRN1_HUMAN	multimerin 1	564					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CTGCAAATGTTTGAAGATTTG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	71	70			NA	NA	4		NA											NA				90856522		2203	4300	6503	SO:0001583	missense			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722	22915	22915		EMI domain containing	7178	protein-coding gene	gene with protein product	glycoprotein Ia*	601456	multimerin	MMRN	NA	7629143, 10828608	Standard	NM_007351	NM_007351	NA	Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000508372.1:c.917T>C	4.37:g.90856522T>C	ENSP00000426461:p.Phe306Ser	NA	Q4W5L1|Q6P3T8|Q6ZUL9	37		.	.	.	.	.	.	.	.	.	.	T	2.832	-0.242392	0.05906	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.68765	-0.02;-0.02;-0.35	5.12	-1.87	0.07737	.	0.556954	0.18268	N	0.146411	T	0.44726	0.1307	L	0.31294	0.92	0.09310	N	0.999999	B	0.14805	0.011	B	0.08055	0.003	T	0.17684	-1.0361	10	0.33940	T	0.23	.	4.6722	0.12694	0.2727:0.3577:0.0:0.3696	.	564	Q13201	MMRN1_HUMAN	S	564;564;306	ENSP00000378431:F564S;ENSP00000264790:F564S;ENSP00000426461:F306S	ENSP00000264790:F564S	F	+	2	0	MMRN1	91075545	0.229000	0.23729	0.001000	0.08648	0.052000	0.14988	0.727000	0.25999	-0.075000	0.12798	0.482000	0.46254	TTT	MMRN1-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000364071.1		+	ENST00000508372.1	Missense_Mutation	SNP	4 : 90856522 - 90856522 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	385	75
NSMCE4A	54780	broad.mit.edu	37	10	123724800	123724800	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123724800C>T	ENST00000369023.3	-	5	805		c.e5+1		NSMCE4A_ENST00000538652.1_Splice_Site|NSMCE4A_ENST00000489266.1_Splice_Site|NSMCE4A_ENST00000369017.5_Splice_Site	NM_001167865.1|NM_017615.2	NP_001161337.1|NP_060085.2	Q9NXX6	NSE4A_HUMAN	non-SMC element 4 homolog A (S. cerevisiae)	NA										breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	6		all_neural(114;0.138)|Glioma(114;0.222)				TTAAAACAAACCTGGGCAGGC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	80	80			NA	NA	10		NA											NA				123724800		2203	4300	6503	SO:0001630	splice_region_variant			AF258584	CCDS7624.1	10q26.13	2007-05-17	2006-11-24	2006-11-24	ENSG00000107672	ENSG00000107672	54780	54780			25935	protein-coding gene	gene with protein product		612987	chromosome 10 open reading frame 86	C10orf86	NA	15752197	Standard	NM_017615	NM_017615	NA	Approved	FLJ20003, bA500G22.3, NSE4A	uc001lfs.3	Q9NXX6	OTTHUMG00000019180	ENST00000369023.3:c.753+1G>A	10.37:g.123724800C>T		NA	Q5SQQ5|Q6P673|Q8WY66|Q9BS90	37	CCDS7624.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.334152	0.60853	.	.	ENSG00000107672	ENST00000369023;ENST00000538652;ENST00000369017	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7303	0.77794	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NSMCE4A	123714790	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	5.561000	0.67339	2.516000	0.84829	0.655000	0.94253	.	NSMCE4A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050749.1	Intron	-	ENST00000369023.3	Splice_Site	SNP	10 : 123724800 - 123724800 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	330	59
TTN	7273	broad.mit.edu	37	2	179430453	179430453	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179430453C>A	ENST00000589042.1	-	326	80630	c.80406G>T	c.(80404-80406)gaG>gaT	p.E26802D	TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E17737D|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E25161D|TTN_ENST00000359218.5_Missense_Mutation_p.E17862D|TTN_ENST00000342175.6_Missense_Mutation_p.E17929D|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E24234D|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25161							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTCAGGTTTCTCCCACATAA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													186	178	180			NA	NA	2		NA											NA				179430453		1997	4177	6174	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.80406G>T	2.37:g.179430453C>A	ENSP00000467141:p.Glu26802Asp	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	9.529	1.110340	0.20714	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.72	3.9	0.45041	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39279	0.1072	L	0.37850	1.14	0.40100	D	0.976354	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.08055	0.002;0.002;0.002;0.003	T	0.31308	-0.9948	9	0.87932	D	0	.	5.4379	0.16492	0.1388:0.6031:0.0:0.2582	.	17737;17862;17929;25161	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	24234;17737;17929;17862;17735	ENSP00000343764:E24234D;ENSP00000434586:E17737D;ENSP00000340554:E17929D;ENSP00000352154:E17862D	ENSP00000340554:E17929D	E	-	3	2	TTN	179138699	0.977000	0.34250	1.000000	0.80357	0.992000	0.81027	0.217000	0.17603	0.747000	0.32809	0.484000	0.47621	GAG	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179430453 - 179430453 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1053	310
MTMR4	9110	broad.mit.edu	37	17	56572543	56572543	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56572543G>A	ENST00000323456.5	-	16	3084	c.2960C>T	c.(2959-2961)cCa>cTa	p.P987L	MTMR4_ENST00000579925.1_Missense_Mutation_p.P930L	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	987						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GACTTGCTTTGGATGACTGGA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													193	186	188			NA	NA	17		NA											NA				56572543		2203	4300	6503	SO:0001583	missense			AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389	9110	9110		Zinc fingers, FYVE domain containing, Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins	7452	protein-coding gene	gene with protein product		603559			NA	9736772	Standard	NM_004687	NM_004687	NA	Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.2960C>T	17.37:g.56572543G>A	ENSP00000325285:p.Pro987Leu	NA	D3DTZ6|Q8IV27|Q9Y4D5	37	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.656254	0.29425	.	.	ENSG00000108389	ENST00000323456	D	0.92647	-3.08	5.58	5.58	0.84498	.	0.804396	0.11951	N	0.513693	D	0.84552	0.5497	N	0.16478	0.41	0.39397	D	0.966519	B	0.02656	0.0	B	0.04013	0.001	T	0.76567	-0.2912	10	0.15499	T	0.54	.	11.8846	0.52594	0.0885:0.0:0.9115:0.0	.	987	Q9NYA4	MTMR4_HUMAN	L	987	ENSP00000325285:P987L	ENSP00000325285:P987L	P	-	2	0	MTMR4	53927542	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	3.504000	0.53347	2.627000	0.88993	0.555000	0.69702	CCA	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444721.1		-	ENST00000323456.5	Missense_Mutation	SNP	17 : 56572543 - 56572543 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	987	184
TTN	7273	broad.mit.edu	37	2	179425926	179425926	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179425926G>A	ENST00000589042.1	-	326	85157	c.84933C>T	c.(84931-84933)taC>taT	p.Y28311Y	TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Silent_p.Y19246Y|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Silent_p.Y26670Y|TTN_ENST00000359218.5_Silent_p.Y19371Y|TTN_ENST00000342175.6_Silent_p.Y19438Y|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Silent_p.Y25743Y|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26670	Fibronectin type-III 106.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTACTTCAAAGTATGTTTCTT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	77	79			NA	NA	2		NA											NA				179425926		1918	4119	6037	SO:0001819	synonymous_variant			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.84933C>T	2.37:g.179425926G>A		NA	E7ET18	37	CCDS59435.1																																																																																			TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Silent	SNP	2 : 179425926 - 179425926 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	355	67
CNTN4	152330	broad.mit.edu	37	3	2928774	2928774	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:2928774G>T	ENST00000397461.1	+	9	1190	c.806G>T	c.(805-807)aGg>aTg	p.R269M	CNTN4_ENST00000358480.3_Missense_Mutation_p.R50M|CNTN4_ENST00000418658.1_Missense_Mutation_p.R269M|CNTN4_ENST00000427331.1_Missense_Mutation_p.R269M	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	269	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CCAATAGCAAGGAAAGCCAGA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	83	85			NA	NA	3		NA											NA				2928774		1851	4106	5957	SO:0001583	missense			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619	152330	152330		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	2174	protein-coding gene	gene with protein product		607280			NA	8586965, 12202991	Standard		NM_175607	NA	Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.806G>T	3.37:g.2928774G>T	ENSP00000380602:p.Arg269Met	NA	Q8IX14|Q8TC35	37	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511723	0.64522	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.73	3.69	0.42338	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.060671	0.64402	D	0.000008	T	0.48750	0.1517	N	0.13198	0.31	0.80722	D	1	P;P	0.49862	0.785;0.929	P;P	0.44518	0.452;0.452	T	0.46373	-0.9196	10	0.51188	T	0.08	.	7.155	0.25632	0.1744:0.1352:0.6904:0.0	.	269;269	B3KTK4;Q8IWV2	.;CNTN4_HUMAN	M	269;269;269;50	ENSP00000396010:R269M;ENSP00000380602:R269M;ENSP00000413642:R269M;ENSP00000351267:R50M	ENSP00000351267:R50M	R	+	2	0	CNTN4	2903774	1.000000	0.71417	0.992000	0.48379	0.787000	0.44495	4.415000	0.59809	0.569000	0.29329	0.650000	0.86243	AGG	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239236.2		+	ENST00000397461.1	Missense_Mutation	SNP	3 : 2928774 - 2928774 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	232	44
DAGLA	747	broad.mit.edu	37	11	61490390	61490390	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61490390T>C	ENST00000257215.5	+	4	483	c.367T>C	c.(367-369)Tac>Cac	p.Y123H		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	123					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CACTCAGTACTACACCTCCTG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													261	172	202			NA	NA	11		NA											NA				61490390		2202	4299	6501	SO:0001583	missense			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	747	747	3.1.1.-		1165	protein-coding gene	gene with protein product	neural stem cell-derived dendrite regulator	614015	chromosome 11 open reading frame 11	C11orf11	NA	9734811	Standard	NM_006133	NM_006133	NA	Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.367T>C	11.37:g.61490390T>C	ENSP00000257215:p.Tyr123His	NA	A7E233|Q6WQJ0	37	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.252832	0.80135	.	.	ENSG00000134780	ENST00000257215	T	0.24908	1.83	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.43875	0.1267	L	0.47716	1.5	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.27365	-1.0076	10	0.46703	T	0.11	-31.8586	15.0401	0.71785	0.0:0.0:0.0:1.0	.	123	Q9Y4D2	DGLA_HUMAN	H	123	ENSP00000257215:Y123H	ENSP00000257215:Y123H	Y	+	1	0	DAGLA	61246966	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.267000	0.78462	2.027000	0.59764	0.459000	0.35465	TAC	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398516.1		+	ENST00000257215.5	Missense_Mutation	SNP	11 : 61490390 - 61490390 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	548	107
TRIP10	9322	broad.mit.edu	37	19	6751225	6751225	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6751225C>A	ENST00000596758.1	+	14	1670	c.1670C>A	c.(1669-1671)cCc>cAc	p.P557H	TRIP10_ENST00000600428.1_3'UTR|CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000313285.8_3'UTR|TRIP10_ENST00000313244.9_3'UTR			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	581	Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and WASL.|Interaction with PDE6G (By similarity).|Interaction with WAS.|Required for interaction with FASLG and localization to lysosomes.|Required for podosome formation.|SH3.				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						TCAATTGAACCCTGCCAGAGA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	60	58			NA	NA	19		NA											NA				6751225		2203	4300	6503	SO:0001583	missense			AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733	9322	9322			12304	protein-coding gene	gene with protein product	Cdc42-interacting protein	604504	salt tolerator	STOT	NA	7776974, 9210375, 11294612	Standard		XM_005259683	NA	Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000596758.1:c.1670C>A	19.37:g.6751225C>A	ENSP00000469360:p.Pro557His	NA	B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	37		.	.	.	.	.	.	.	.	.	.	C	3.160	-0.172245	0.06421	.	.	ENSG00000125733	ENST00000420690	.	.	.	4.29	3.25	0.37280	.	.	.	.	.	T	0.55305	0.1912	.	.	.	0.40025	D	0.975469	D	0.58268	0.982	P	0.50490	0.642	T	0.60161	-0.7317	7	0.87932	D	0	.	8.1579	0.31180	0.0:0.8893:0.0:0.1107	.	557	G5E9U1	.	H	557	.	ENSP00000415493:P557H	P	+	2	0	TRIP10	6702225	0.150000	0.22732	0.487000	0.27428	0.191000	0.23601	0.349000	0.20055	1.182000	0.42928	0.305000	0.20034	CCC	TRIP10-005	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000317131.1		+	ENST00000596758.1	Missense_Mutation	SNP	19 : 6751225 - 6751225 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	665	104
LEF1	51176	broad.mit.edu	37	4	109010379	109010379	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:109010379G>A	ENST00000265165.1	-	4	1103	c.449C>T	c.(448-450)gCg>gTg	p.A150V	LEF1_ENST00000379951.2_Missense_Mutation_p.A150V|LEF1_ENST00000512172.1_Missense_Mutation_p.A82V|LEF1_ENST00000510624.1_Missense_Mutation_p.A82V|LEF1_ENST00000438313.2_Missense_Mutation_p.A150V	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	150	Pro-rich.				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		AGGATGGACCGCATGGGATGG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	122	110	114		449,449,245,449	5	0.6	4		114	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense	LEF1	NM_001130713.2,NM_001130714.2,NM_001166119.1,NM_016269.4	64,64,64,64	0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	150/372,150/387,82/304,150/400	109010379	2,13004	2203	4300	6503	SO:0001583	missense				CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795	51176	51176			6551	protein-coding gene	gene with protein product		153245			NA	1783375	Standard		NM_016269	NA	Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.449C>T	4.37:g.109010379G>A	ENSP00000265165:p.Ala150Val	NA	B4DG38|Q3ZCU4|Q9HAZ0	37	CCDS3679.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276371	0.59649	0.0	2.33E-4	ENSG00000138795	ENST00000265165;ENST00000379951;ENST00000438313;ENST00000510624;ENST00000515500;ENST00000512172	D;D;D;D	0.99150	-5.49;-5.48;-5.49;-5.47	5.87	5.03	0.67393	CTNNB1 binding, N-teminal (1);	0.000000	0.85682	D	0.000000	D	0.98741	0.9577	L	0.50333	1.59	0.52099	D	0.999948	P;D;B;D;P	0.76494	0.904;0.999;0.003;0.994;0.781	B;D;B;P;B	0.77004	0.231;0.989;0.001;0.847;0.183	D	0.99201	1.0873	10	0.20519	T	0.43	-1.1134	14.9854	0.71345	0.0681:0.0:0.9319:0.0	.	82;35;150;150;150	E9PDK3;B4DZY5;Q9UJU2-6;Q9UJU2-5;Q9UJU2	.;.;.;.;LEF1_HUMAN	V	150;150;150;82;82;82	ENSP00000265165:A150V;ENSP00000369284:A150V;ENSP00000406176:A150V;ENSP00000422840:A82V	ENSP00000265165:A150V	A	-	2	0	LEF1	109229828	1.000000	0.71417	0.589000	0.28718	0.656000	0.38851	5.476000	0.66793	1.501000	0.48654	-0.229000	0.12294	GCG	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254749.2		-	ENST00000265165.1	Missense_Mutation	SNP	4 : 109010379 - 109010379 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	399	70
SYNE1	23345	broad.mit.edu	37	6	152466669	152466669	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152466669G>T	ENST00000423061.1	-	137	25221	c.24785C>A	c.(24784-24786)cCt>cAt	p.P8262H	SYNE1_ENST00000539504.1_Intron|SYNE1_ENST00000354674.4_Missense_Mutation_p.P488H|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Intron|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000448038.1_Missense_Mutation_p.P8262H|SYNE1_ENST00000265368.4_Intron|SYNE1_ENST00000367255.5_Intron	NM_033071.3	NP_149062.1	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8324					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATAGGCCTCAGGGCTTTCGGG	0.463		NA								HNSCC(10;0.0054)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	109	111			NA	NA	6		NA											NA				152466669		2203	4300	6503	SO:0001583	missense			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018	23345	23345			17089	protein-coding gene	gene with protein product	myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1	608441	chromosome 6 open reading frame 98	C6orf98	NA	9872452, 10878022	Standard	NM_182961	NM_182961	NA	Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000423061.1:c.24785C>A	6.37:g.152466669G>T	ENSP00000396024:p.Pro8262His	NA	O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	37	CCDS5235.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238310	0.58886	.	.	ENSG00000131018	ENST00000423061;ENST00000448038;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T	0.53423	0.62;0.63;1.64;4.64	5.37	5.37	0.77165	.	.	.	.	.	T	0.57431	0.2053	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.68943	0.961;0.819	T	0.61912	-0.6965	9	0.72032	D	0.01	.	12.9001	0.58121	0.0841:0.0:0.9159:0.0	.	8262;8262	Q8NF91-4;E9PEL9	.;.	H	8262;8262;495;490;1255;488	ENSP00000396024:P8262H;ENSP00000390975:P8262H;ENSP00000356220:P1255H;ENSP00000346701:P488H	ENSP00000318783:P495H	P	-	2	0	SYNE1	152508362	1.000000	0.71417	0.389000	0.26208	0.978000	0.69477	5.643000	0.67895	2.514000	0.84764	0.650000	0.86243	CCT	SYNE1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042732.5		-	ENST00000423061.1	Missense_Mutation	SNP	6 : 152466669 - 152466669 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	314	67
PKN1	5585	broad.mit.edu	37	19	14578761	14578761	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14578761C>T	ENST00000242783.6	+	15	2123	c.1958C>T	c.(1957-1959)gCc>gTc	p.A653V	PKN1_ENST00000342216.4_Missense_Mutation_p.A659V	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	653	Protein kinase.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GACATTGTGGCCCGAGACGAG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(185;2539 2965 10733 52867)							NA				0													43	46	45			NA	NA	19		NA											NA				14578761		1932	4127	6059	SO:0001583	missense			S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143	5585	5585			9405	protein-coding gene	gene with protein product		601032	protein kinase C-like 1	PRKCL1	NA	9570957	Standard	NM_002741, NM_213560	NM_002741	NA	Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.1958C>T	19.37:g.14578761C>T	ENSP00000242783:p.Ala653Val	NA	A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	37	CCDS42513.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361481	0.82353	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.65732	-0.17;-0.17	4.62	4.62	0.57501	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000007	T	0.61211	0.2329	N	0.11023	0.085	0.40078	D	0.976102	D;D	0.59767	0.982;0.986	P;D	0.64144	0.873;0.922	T	0.69818	-0.5042	10	0.72032	D	0.01	-7.1948	15.3299	0.74200	0.0:1.0:0.0:0.0	.	659;653	Q16512-2;Q16512	.;PKN1_HUMAN	V	653;659	ENSP00000242783:A653V;ENSP00000343325:A659V	ENSP00000242783:A653V	A	+	2	0	PKN1	14439761	0.994000	0.37717	1.000000	0.80357	0.964000	0.63967	3.566000	0.53805	2.555000	0.86185	0.561000	0.74099	GCC	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095510.1		+	ENST00000242783.6	Missense_Mutation	SNP	19 : 14578761 - 14578761 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	293	73
C10orf120	399814	broad.mit.edu	37	10	124457633	124457633	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124457633G>A	ENST00000329446.4	-	3	655	c.624C>T	c.(622-624)gcC>gcT	p.A208A		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	208										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				CCTTTCGTCTGGCCTTATTTT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	100	107			NA	NA	10		NA											NA				124457633		2203	4300	6503	SO:0001819	synonymous_variant				CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559	399814	399814			25707	protein-coding gene	gene with protein product					NA		Standard	NM_001010912	NM_001010912	NA	Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.624C>T	10.37:g.124457633G>A		NA	B2RU17	37	CCDS31302.1																																																																																			C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050803.1		-	ENST00000329446.4	Silent	SNP	10 : 124457633 - 124457633 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	268	50
ZNF287	57336	broad.mit.edu	37	17	16455434	16455434	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16455434T>C	ENST00000395824.1	-	6	2639	c.2022A>G	c.(2020-2022)aaA>aaG	p.K674K	ZNF287_ENST00000395825.3_Silent_p.K674K			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	667					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		ATTTATAGGGTTTTTCTCCAG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	87	87			NA	NA	17		NA											NA				16455434		2203	4300	6503	SO:0001819	synonymous_variant			AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040	57336	57336		Zinc fingers, C2H2-type, -, -, -	13502	protein-coding gene	gene with protein product					NA		Standard		NM_020653	NA	Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.2022A>G	17.37:g.16455434T>C		NA	Q6IAG1	37	CCDS11179.2																																																																																			ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130504.1		-	ENST00000395824.1	Silent	SNP	17 : 16455434 - 16455434 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	348	88
CCT3	7203	broad.mit.edu	37	1	156288797	156288797	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156288797G>A	ENST00000295688.3	-	8	901	c.621C>T	c.(619-621)ggC>ggT	p.G207G	CCT3_ENST00000368259.2_Silent_p.G169G|CCT3_ENST00000472765.2_Silent_p.G162G|CCT3_ENST00000368261.3_Silent_p.G162G	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	207					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CTTCAATGATGCCTCCAGGTA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	72	73			NA	NA	1		NA											NA				156288797		2203	4300	6503	SO:0001819	synonymous_variant			BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468	7203	7203		Heat Shock Proteins / Chaperonins	1616	protein-coding gene	gene with protein product		600114		TRIC5	NA	8110840	Standard	NM_005998	NM_005998	NA	Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.621C>T	1.37:g.156288797G>A		NA	Q5SZY1|Q9BR64	37	CCDS1140.2																																																																																			CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060602.3		-	ENST00000295688.3	Silent	SNP	1 : 156288797 - 156288797 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	30
MFSD6	54842	broad.mit.edu	37	2	191301736	191301736	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191301736G>A	ENST00000392328.1	+	3	1305	c.981G>A	c.(979-981)caG>caA	p.Q327Q	MFSD6_ENST00000281416.7_Silent_p.Q327Q	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	327					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						ATGGGTTGCAGCGCATGTGGG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	108	108			NA	NA	2		NA											NA				191301736		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690	54842	54842			24711	protein-coding gene	gene with protein product		613476			NA		Standard		NM_017694	NA	Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.981G>A	2.37:g.191301736G>A		NA	D3KSZ4|Q86TH2|Q9NXM3	37	CCDS2306.1																																																																																			MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255931.1		+	ENST00000392328.1	Silent	SNP	2 : 191301736 - 191301736 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	880	231
HECW1	23072	broad.mit.edu	37	7	43483972	43483972	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43483972G>C	ENST00000453890.1	+	10	1525	c.1201G>C	c.(1201-1203)Gtc>Ctc	p.V401L	HECW1_ENST00000395891.2_Missense_Mutation_p.V401L			Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	401					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGAGGGCAGTGTCCCCGATGG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	50	49			NA	NA	7		NA											NA				43483972		2100	4229	6329	SO:0001583	missense			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746	23072	23072			22195	protein-coding gene	gene with protein product		610384			NA	12690205, 14684739	Standard	NM_015052	XM_005249665	NA	Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000453890.1:c.1201G>C	7.37:g.43483972G>C	ENSP00000407774:p.Val401Leu	NA	A7E2X0|A8MYS3|O15036|Q9HCC7	37		.	.	.	.	.	.	.	.	.	.	G	5.891	0.348572	0.11126	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.29142	1.58;1.58	5.4	1.27	0.21489	.	8.972470	0.00166	N	0.000000	T	0.18635	0.0447	N	0.22421	0.69	0.09310	N	1	B;B	0.15141	0.012;0.005	B;B	0.11329	0.006;0.002	T	0.12451	-1.0547	10	0.09084	T	0.74	.	2.8098	0.05438	0.1378:0.1234:0.4846:0.2543	.	401;401	B4DH42;Q76N89	.;HECW1_HUMAN	L	401	ENSP00000379228:V401L;ENSP00000407774:V401L	ENSP00000265522:V401L	V	+	1	0	HECW1	43450497	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.366000	0.20365	0.331000	0.23511	-0.182000	0.12963	GTC	HECW1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000338775.1		+	ENST00000453890.1	Missense_Mutation	SNP	7 : 43483972 - 43483972 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	307	48
ITGAX	3687	broad.mit.edu	37	16	31383786	31383786	+	Missense_Mutation	SNP	C	C	T	rs139559004	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31383786C>T	ENST00000268296.4	+	18	2369	c.2248C>T	c.(2248-2250)Cgg>Tgg	p.R750W	ITGAX_ENST00000562522.1_Missense_Mutation_p.R750W	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	750					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CAGAAACCTGCGGCCTATGCT	0.642		NA											C	5	0.0023	NA	NA	2184	NA	0.9996	,	,	NA	4e-04	0.01	NA	NA	0.0025	0.9302	LOWCOV,EXOME	NA	NA	0.0289	SNP								NA				0								C	TRP/ARG	1,4391	2.1+/-5.4	0,1,2195	56	52	53		2248	3.7	0.1	16	dbSNP_134	53	12,8588	9.1+/-34.3	0,12,4288	yes	missense	ITGAX	NM_000887.3	101	0,13,6483	TT,TC,CC	NA	0.1395,0.0228,0.1001	probably-damaging	750/1164	31383786	13,12979	2196	4300	6496	SO:0001583	missense			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678	3687	3687		CD molecules, Complement system, Integrins	6152	protein-coding gene	gene with protein product		151510	integrin, alpha X (antigen CD11C (p150), alpha polypeptide)	CD11C	NA	3284962, 2303426	Standard	NM_000887	NM_001286375	NA	Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.2248C>T	16.37:g.31383786C>T	ENSP00000268296:p.Arg750Trp	NA	Q8IVA6	37	CCDS10711.1	5	0.0022893772893772895	0	0.0	0	0.0	0	0.0	5	0.006596306068601583	C	20.8	4.048045	0.75846	2.28E-4	0.001395	ENSG00000140678	ENST00000268296	T	0.47869	0.83	4.69	3.71	0.42584	Integrin alpha-2 (1);	.	.	.	.	T	0.51534	0.1680	M	0.67700	2.07	0.24917	N	0.992006	D	0.89917	1.0	P	0.56612	0.802	T	0.49351	-0.8949	9	0.72032	D	0.01	.	11.6127	0.51069	0.1787:0.8213:0.0:0.0	.	750	P20702	ITAX_HUMAN	W	750	ENSP00000268296:R750W	ENSP00000268296:R750W	R	+	1	2	ITGAX	31291287	0.000000	0.05858	0.117000	0.21633	0.320000	0.28249	0.223000	0.17719	1.268000	0.44264	0.467000	0.42956	CGG	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255628.2		+	ENST00000268296.4	Missense_Mutation	SNP	16 : 31383786 - 31383786 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	479	83
ZDHHC5	25921	broad.mit.edu	37	11	57457546	57457546	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57457546G>A	ENST00000287169.3	+	5	1790	c.428G>A	c.(427-429)cGc>cAc	p.R143H	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.R90H	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	143						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						TGTATTGGTCGCCGGAACTAC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	151	153			NA	NA	11		NA											NA				57457546		2201	4296	6497	SO:0001583	missense			AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599	25921	25921		Zinc fingers, DHHC-type	18472	protein-coding gene	gene with protein product		614586			NA	11214970	Standard	NM_015457	NM_015457	NA	Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.428G>A	11.37:g.57457546G>A	ENSP00000287169:p.Arg143His	NA	Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	37	CCDS7965.1	.	.	.	.	.	.	.	.	.	.	G	36	5.687494	0.96784	.	.	ENSG00000156599	ENST00000527985;ENST00000287169;ENST00000528177;ENST00000532842	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	5.23	5.23	0.72850	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.056441	0.64402	N	0.000001	T	0.47395	0.1443	L	0.55743	1.74	0.80722	D	1	D	0.76494	0.999	D	0.67548	0.952	T	0.42515	-0.9447	10	0.87932	D	0	-12.894	18.5851	0.91187	0.0:0.0:1.0:0.0	.	143	Q9C0B5	ZDHC5_HUMAN	H	90;143;41;41	ENSP00000432202:R90H;ENSP00000287169:R143H;ENSP00000431209:R41H;ENSP00000435593:R41H	ENSP00000287169:R143H	R	+	2	0	ZDHHC5	57214122	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.125000	0.94402	2.714000	0.92807	0.563000	0.77884	CGC	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393694.1		+	ENST00000287169.3	Missense_Mutation	SNP	11 : 57457546 - 57457546 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	845	151
MUC15	143662	broad.mit.edu	37	11	26582721	26582721	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26582721G>T	ENST00000455601.2	-	4	1014	c.896C>A	c.(895-897)tCt>tAt	p.S299Y	ANO3_ENST00000256737.3_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000436318.2_Missense_Mutation_p.S326Y|MUC15_ENST00000529533.1_Missense_Mutation_p.S326Y|MUC15_ENST00000527569.1_Missense_Mutation_p.S276Y|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.S276Y|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000529242.1_Intron	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	299						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						GTAGTAGCTAGAATTCCCAAA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	139	144			NA	NA	11		NA											NA				26582721		2203	4300	6503	SO:0001583	missense			AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14				143662	143662		Mucins	14956	protein-coding gene	gene with protein product		608566			NA	12047385	Standard	NM_145650	NM_145650	NA	Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.896C>A	11.37:g.26582721G>T	ENSP00000397339:p.Ser299Tyr	NA	B3KY00|Q6UWS3|Q8IXI8|Q8WW41	37	CCDS7859.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867333	0.72065	.	.	ENSG00000169550	ENST00000455601;ENST00000436318;ENST00000281268;ENST00000529533;ENST00000527569	T;T;T;T;T	0.28255	1.64;1.62;1.63;1.62;1.63	5.43	5.43	0.79202	.	0.000000	0.49305	D	0.000143	T	0.43055	0.1230	L	0.32530	0.975	0.32851	D	0.506659	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.74023	0.982;0.948;0.971	T	0.53486	-0.8432	10	0.72032	D	0.01	-17.9456	12.5049	0.55975	0.0811:0.0:0.9189:0.0	.	276;299;326	F8W945;Q8N387;E9PII6	.;MUC15_HUMAN;.	Y	299;326;276;326;276	ENSP00000397339:S299Y;ENSP00000416753:S326Y;ENSP00000281268:S276Y;ENSP00000431983:S326Y;ENSP00000431945:S276Y	ENSP00000281268:S276Y	S	-	2	0	MUC15	26539297	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	3.813000	0.55636	2.708000	0.92522	0.591000	0.81541	TCT	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387866.1		-	ENST00000455601.2	Missense_Mutation	SNP	11 : 26582721 - 26582721 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	259	54
ABHD16A	7920	broad.mit.edu	37	6	31659391	31659391	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31659391G>A	ENST00000440843.2	-	7	1010	c.709C>T	c.(709-711)Cgg>Tgg	p.R237W	ABHD16A_ENST00000375842.4_Missense_Mutation_p.R51W|ABHD16A_ENST00000395952.3_Missense_Mutation_p.R270W|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR	NM_001177515.1	NP_001170986.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	270						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						GTCCCCCGCCGGTCCACAAAC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	57	59			NA	NA	6		NA											NA				31659391		1510	2709	4219	SO:0001583	missense			AF129756	CCDS4713.1, CCDS54988.1	6p21.3	2013-01-17	2010-12-09	2010-12-09	ENSG00000204427	ENSG00000204427	7920	7920		Abhydrolase domain containing	13921	protein-coding gene	gene with protein product		142620	HLA-B associated transcript 5	BAT5	NA	2911734, 2813433	Standard		NM_021160	NA	Approved	NG26, D6S82E	uc003nvy.2	O95870	OTTHUMG00000031177	ENST00000440843.2:c.709C>T	6.37:g.31659391G>A	ENSP00000410347:p.Arg237Trp	NA	A2BEY3|Q5SRR1|Q5SRR2|Q8WYH0|Q9NW33	37	CCDS54988.1	.	.	.	.	.	.	.	.	.	.	G	35	5.546342	0.96488	.	.	ENSG00000204427	ENST00000395952;ENST00000375842;ENST00000440843	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.77445	0.4131	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.78937	-0.2007	9	0.62326	D	0.03	-28.2409	17.3305	0.87262	0.0:0.0:1.0:0.0	.	237;270	B7Z4R6;O95870	.;ABHGA_HUMAN	W	270;51;237	.	ENSP00000365002:R51W	R	-	1	2	ABHD16A	31767370	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.502000	0.73695	2.763000	0.94921	0.650000	0.86243	CGG	ABHD16A-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268005.2		-	ENST00000440843.2	Missense_Mutation	SNP	6 : 31659391 - 31659391 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	244	48
ABCD3	5825	broad.mit.edu	37	1	94965137	94965137	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94965137C>T	ENST00000370214.4	+	20	1731	c.1707C>T	c.(1705-1707)gaC>gaT	p.D569D	ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000536817.1_Silent_p.D496D|ABCD3_ENST00000454898.2_Silent_p.D593D|ABCD3_ENST00000394233.2_Silent_p.D459D	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	569	ABC transporter.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		ATTGGATGGACGTACTCAGTG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	147	157			NA	NA	1		NA											NA				94965137		2203	4300	6503	SO:0001819	synonymous_variant			M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528	5825	5825		ATP binding cassette transporters / subfamily D	67	protein-coding gene	gene with protein product		170995		PXMP1	NA	1301993, 8449508	Standard	NM_002858	NM_002858	NA	Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1707C>T	1.37:g.94965137C>T		NA	D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	37	CCDS749.1																																																																																			ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029597.1		+	ENST00000370214.4	Silent	SNP	1 : 94965137 - 94965137 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	425	48
PSMD9	5715	broad.mit.edu	37	12	122337749	122337749	+	Missense_Mutation	SNP	G	G	A	rs139208583		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122337749G>A	ENST00000261817.2	+	3	537	c.451G>A	c.(451-453)Gcg>Acg	p.A151T	PSMD9_ENST00000542602.1_Intron|PSMD9_ENST00000340175.5_Missense_Mutation_p.A151T|PSMD9_ENST00000541212.1_Missense_Mutation_p.A151T|RP11-87C12.2_ENST00000546333.1_Intron	NM_002813.5	NP_002804.2	O00233	PSMD9_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 9	151	PDZ.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of insulin secretion|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of insulin secretion|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	nucleus|proteasome regulatory particle	bHLH transcription factor binding|transcription coactivator activity			endometrium(1)|large_intestine(1)|lung(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231)		AGCCAGCATCGCGGTAATCCA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA	1,4405		0,1,2202	34	39	37		451	4.7	1	12	dbSNP_134	37	0,8600		0,0,4300	no	missense	PSMD9	NM_002813.4	58	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	possibly-damaging	151/224	122337749	1,13005	2203	4300	6503	SO:0001583	missense			AB003177	CCDS9225.1, CCDS58284.1	12q24.31-q24.32	2008-05-22			ENSG00000110801	ENSG00000110801	5715	5715		Proteasome (prosome, macropain) subunits	9567	protein-coding gene	gene with protein product		603146			NA	9653651	Standard	NM_002813	NM_002813	NA	Approved	p27, Rpn4	uc001ubl.4	O00233	OTTHUMG00000168945	ENST00000261817.2:c.451G>A	12.37:g.122337749G>A	ENSP00000261817:p.Ala151Thr	NA	B2RD35|Q9BQ42	37		.	.	.	.	.	.	.	.	.	.	G	27.2	4.809965	0.90707	2.27E-4	0.0	ENSG00000110801	ENST00000541212;ENST00000340175;ENST00000261817;ENST00000538613;ENST00000544724	T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15	5.62	4.66	0.58398	PDZ/DHR/GLGF (2);	0.103761	0.64402	D	0.000002	T	0.60301	0.2258	H	0.98388	4.22	0.53688	D	0.999974	D;D	0.89917	1.0;0.999	D;D	0.70716	0.97;0.943	T	0.73062	-0.4101	10	0.66056	D	0.02	-36.6176	11.2076	0.48780	0.0:0.0:0.5971:0.4029	.	151;151	F8W7V8;O00233	.;PSMD9_HUMAN	T	151;151;151;151;62	ENSP00000440485:A151T;ENSP00000340847:A151T;ENSP00000261817:A151T;ENSP00000443081:A151T;ENSP00000443929:A62T	ENSP00000261817:A151T	A	+	1	0	PSMD9	120822132	1.000000	0.71417	0.952000	0.39060	0.845000	0.48019	3.743000	0.55104	2.648000	0.89879	0.563000	0.77884	GCG	PSMD9-001	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000401689.1		+	ENST00000261817.2	Missense_Mutation	SNP	12 : 122337749 - 122337749 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	304	42
CPN1	1369	broad.mit.edu	37	10	101835819	101835819	+	Missense_Mutation	SNP	G	G	A	rs138185881		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101835819G>A	ENST00000370418.3	-	2	520	c.269C>T	c.(268-270)gCg>gTg	p.A90V		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	90	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		GCGGCCCAACGCTTCGTTGCC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0									VAL/ALA	0,4406		0,0,2203	118	99	106		269	0.7	1	10	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	no	missense	CPN1	NM_001308.2	64	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	90/459	101835819	1,13005	2203	4300	6503	SO:0001583	missense			X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	1369	1369	3.4.17.3		2312	protein-coding gene	gene with protein product	anaphylatoxin inactivator, arginine carboxypeptidase, carboxypeptidase K, kininase I, lysine carboxypeptidase	603103	carboxypeptidase N, polypeptide 1, 50kD		NA	9628828, 2912725	Standard	NM_001308	NM_001308	NA	Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.269C>T	10.37:g.101835819G>A	ENSP00000359446:p.Ala90Val	NA		37	CCDS7486.1	.	.	.	.	.	.	.	.	.	.	G	0.450	-0.894347	0.02491	0.0	1.16E-4	ENSG00000120054	ENST00000370418	T	0.09723	2.95	5.59	0.741	0.18336	Peptidase M14, carboxypeptidase A (4);	0.221527	0.46145	N	0.000303	T	0.02012	0.0063	N	0.00392	-1.555	0.27509	N	0.951746	B	0.12013	0.005	B	0.06405	0.002	T	0.46289	-0.9202	10	0.02654	T	1	-42.9443	9.0393	0.36307	0.7156:0.0:0.2844:0.0	.	90	P15169	CBPN_HUMAN	V	90	ENSP00000359446:A90V	ENSP00000359446:A90V	A	-	2	0	CPN1	101825809	1.000000	0.71417	0.998000	0.56505	0.075000	0.17131	1.868000	0.39509	-0.101000	0.12219	-0.302000	0.09304	GCG	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049828.1		-	ENST00000370418.3	Missense_Mutation	SNP	10 : 101835819 - 101835819 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	557	115
KIF2B	84643	broad.mit.edu	37	17	51900974	51900974	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:51900974T>G	ENST00000268919.4	+	1	736	c.580T>G	c.(580-582)Tat>Gat	p.Y194D		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	194					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GATCGAAGAGTATCGCAGGCA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	65	68			NA	NA	17		NA											NA				51900974		2203	4300	6503	SO:0001583	missense			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200	84643	84643		Kinesins	29443	protein-coding gene	gene with protein product		615142			NA	11416179	Standard	NM_032559	NM_032559	NA	Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.580T>G	17.37:g.51900974T>G	ENSP00000268919:p.Tyr194Asp	NA	Q96MA2|Q9BXG6	37	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	T	15.49	2.849780	0.51270	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.17370	2.28	5.52	5.52	0.82312	.	0.449029	0.18966	N	0.126267	T	0.22244	0.0536	M	0.62723	1.935	0.44771	D	0.997772	P	0.43857	0.819	B	0.39562	0.303	T	0.02805	-1.1108	10	0.87932	D	0	.	15.1057	0.72319	0.0:0.0:0.0:1.0	.	194	Q8N4N8	KIF2B_HUMAN	D	194;117	ENSP00000268919:Y194D	ENSP00000268919:Y194D	Y	+	1	0	KIF2B	49255973	1.000000	0.71417	0.413000	0.26509	0.753000	0.42808	5.369000	0.66138	2.211000	0.71520	0.533000	0.62120	TAT	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438854.1		+	ENST00000268919.4	Missense_Mutation	SNP	17 : 51900974 - 51900974 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	445	79
ZUFSP	221302	broad.mit.edu	37	6	116988313	116988313	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116988313G>T	ENST00000368576.3	-	2	286	c.43C>A	c.(43-45)Cca>Aca	p.P15T	ZUFSP_ENST00000368573.1_Missense_Mutation_p.P15T|ZUFSP_ENST00000471919.1_Intron	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	15						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		TTCATGTCTGGTTCTGAGGTT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	79	78			NA	NA	6		NA											NA				116988313		2197	4297	6494	SO:0001583	missense			AK054582	CCDS5110.1	6q22.31	2013-01-28	2008-03-25	2008-03-25	ENSG00000153975	ENSG00000153975	221302	221302		Zinc fingers, C2H2-type	21224	protein-coding gene	gene with protein product			chromosome 6 open reading frame 113	C6orf113	NA		Standard	NM_145062	NM_145062	NA	Approved	dJ412I7.3	uc003pxf.2	Q96AP4	OTTHUMG00000015445	ENST00000368576.3:c.43C>A	6.37:g.116988313G>T	ENSP00000357565:p.Pro15Thr	NA	Q5TD92|Q6PJH7|Q96NV6	37	CCDS5110.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474248	0.26423	.	.	ENSG00000153975	ENST00000368576;ENST00000368573	T;T	0.41758	0.99;1.69	5.94	2.01	0.26516	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.556492	0.20197	N	0.097170	T	0.12220	0.0297	L	0.46157	1.445	0.26349	N	0.977233	B	0.27013	0.166	B	0.28916	0.096	T	0.21965	-1.0230	10	0.30854	T	0.27	-7.5367	1.1741	0.01832	0.2616:0.1504:0.4327:0.1552	.	15	Q96AP4	ZUFSP_HUMAN	T	15	ENSP00000357565:P15T;ENSP00000357562:P15T	ENSP00000357562:P15T	P	-	1	0	ZUFSP	117095006	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	0.902000	0.28459	0.350000	0.24002	-0.367000	0.07326	CCA	ZUFSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041961.1		-	ENST00000368576.3	Missense_Mutation	SNP	6 : 116988313 - 116988313 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	544	92
PAG1	55824	broad.mit.edu	37	8	81889134	81889134	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:81889134G>T	ENST00000220597.4	-	9	1654	c.944C>A	c.(943-945)gCt>gAt	p.A315D		NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	phosphoprotein membrane anchor with glycosphingolipid microdomains 1	315					epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			TGAGTACATAGCTGAGATCTA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	91	90			NA	NA	8		NA											NA				81889134		2203	4300	6503	SO:0001583	missense			AF240634	CCDS6227.1	8q21.13	2014-04-30	2014-04-30				55824	55824			30043	protein-coding gene	gene with protein product	Csk-binding protein, transmembrane adaptor protein PAG	605767	phosphoprotein associated with glycosphingolipid microdomains 1		NA	10790433	Standard	NM_018440	XM_006716461	NA	Approved	PAG, CBP	uc003ybz.3	Q9NWQ8		ENST00000220597.4:c.944C>A	8.37:g.81889134G>T	ENSP00000220597:p.Ala315Asp	NA	A8K1A3|Q2M1Z9|Q5BKU4|Q9NYK0	37	CCDS6227.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827193	0.90955	.	.	ENSG00000076641	ENST00000220597	.	.	.	5.53	5.53	0.82687	.	0.119572	0.56097	D	0.000027	T	0.77329	0.4114	M	0.67953	2.075	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.71813	-0.4479	9	0.20519	T	0.43	-15.1381	19.0444	0.93013	0.0:0.0:1.0:0.0	.	315	Q9NWQ8	PAG1_HUMAN	D	315	.	ENSP00000220597:A315D	A	-	2	0	PAG1	82051689	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.973000	0.76116	2.604000	0.88044	0.655000	0.94253	GCT	PAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379352.3		-	ENST00000220597.4	Missense_Mutation	SNP	8 : 81889134 - 81889134 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	525	97
DST	667	broad.mit.edu	37	6	56535563	56535563	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56535563C>T	ENST00000361203.3	-	6	464	c.457G>A	c.(457-459)Gca>Aca	p.A153T	DST_ENST00000370788.2_Missense_Mutation_p.A153T|DST_ENST00000370754.5_Missense_Mutation_p.A331T|DST_ENST00000370769.4_Missense_Mutation_p.A153T|DST_ENST00000421834.2_Missense_Mutation_p.A153T|DST_ENST00000312431.6_Missense_Mutation_p.A153T			Q03001	DYST_HUMAN	dystonin	153	Actin-binding.|CH 2.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTCTCTTTTGCAGACATATCC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	56	58			NA	NA	6		NA											NA				56535563		1882	4126	6008	SO:0001583	missense			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914	667	667		EF-hand domain containing	1090	protein-coding gene	gene with protein product		113810	bullous pemphigoid antigen 1, 230/240kDa	BPAG1	NA	2461961, 2276744	Standard	NM_001723	NM_001144770	NA	Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.457G>A	6.37:g.56535563C>T	ENSP00000354508:p.Ala153Thr	NA	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	37		.	.	.	.	.	.	.	.	.	.	C	24.6	4.544300	0.86022	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000421834;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000520645;ENST00000449297;ENST00000522538;ENST00000523817	D;D;D;D;D;D;D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79	4.87	4.87	0.63330	Calponin homology domain (4);	0.000000	0.52532	D	0.000061	D	0.98172	0.9396	M	0.91717	3.235	0.33638	D	0.606963	D;D;D;D;D;D	0.89917	0.999;0.999;0.995;1.0;0.999;0.999	D;D;D;D;D;D	0.81914	0.988;0.994;0.988;0.994;0.995;0.994	D	0.98869	1.0765	9	0.87932	D	0	.	18.5556	0.91083	0.0:1.0:0.0:0.0	.	182;153;153;331;269;153	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q03001	.;.;.;.;.;DYST_HUMAN	T	331;153;153;153;153;153;193;331;104;146	ENSP00000359790:A331T;ENSP00000359805:A153T;ENSP00000400883:A153T;ENSP00000307959:A153T;ENSP00000359824:A153T;ENSP00000354508:A153T;ENSP00000431030:A193T;ENSP00000393082:A331T;ENSP00000429075:A104T;ENSP00000429221:A146T	ENSP00000307959:A153T	A	-	1	0	DST	56643522	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.680000	0.91292	0.591000	0.81541	GCA	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000041021.3		-	ENST00000361203.3	Missense_Mutation	SNP	6 : 56535563 - 56535563 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	96	13
SLC25A12	8604	broad.mit.edu	37	2	172648089	172648089	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:172648089G>A	ENST00000422440.2	-	15	1494	c.1457C>T	c.(1456-1458)gCg>gTg	p.A486V	SLC25A12_ENST00000392592.4_Missense_Mutation_p.A379V	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	486					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	GAGGAAACACGCTTTGGCACC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	91	93			NA	NA	2		NA											NA				172648089		2203	4300	6503	SO:0001583	missense			Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840	8604	8604		Solute carriers, EF-hand domain containing	10982	protein-coding gene	gene with protein product		603667	solute carrier family 25 (mitochondrial carrier, Aralar), member 12		NA	9722566, 10702666, 11566871	Standard	NM_003705	NM_003705	NA	Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.1457C>T	2.37:g.172648089G>A	ENSP00000388658:p.Ala486Val	NA	Q96AM8	37	CCDS33327.1	.	.	.	.	.	.	.	.	.	.	G	35	5.449200	0.96205	.	.	ENSG00000115840	ENST00000422440;ENST00000392592	T;T	0.79352	-1.26;-1.26	6.07	6.07	0.98685	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.89210	0.6650	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89034	0.3444	10	0.87932	D	0	-10.5306	20.6593	0.99626	0.0:0.0:1.0:0.0	.	379;486	B3KR64;O75746	.;CMC1_HUMAN	V	486;379	ENSP00000388658:A486V;ENSP00000376371:A379V	ENSP00000376371:A379V	A	-	2	0	SLC25A12	172356335	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.824000	0.99380	2.885000	0.99019	0.655000	0.94253	GCG	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000259010.2		-	ENST00000422440.2	Missense_Mutation	SNP	2 : 172648089 - 172648089 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	408	109
RAB2B	84932	broad.mit.edu	37	14	21931868	21931868	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21931868G>A	ENST00000397762.1	-	6	521	c.421C>T	c.(421-423)Cat>Tat	p.H141Y	RAB2B_ENST00000461909.1_5'UTR	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	Q8WUD1	RAB2B_HUMAN	RAB2B, member RAS oncogene family	141					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane|plasma membrane	GTP binding			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		ATAAGTCCATGCTCCCTAGCA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(131;1007 1750 28652 34486 42672)							NA				0													153	141	145			NA	NA	14		NA											NA				21931868		2203	4300	6503	SO:0001583	missense			AK027730	CCDS9570.1	14q11.1	2006-12-18			ENSG00000129472	ENSG00000129472	84932	84932		RAB, member RAS oncogene	20246	protein-coding gene	gene with protein product		607466			NA	12376746	Standard		NM_032846	NA	Approved	FLJ14824	uc010tlt.2	Q8WUD1	OTTHUMG00000029693	ENST00000397762.1:c.421C>T	14.37:g.21931868G>A	ENSP00000380869:p.His141Tyr	NA	B2RD03|D3DS24	37	CCDS9570.1	.	.	.	.	.	.	.	.	.	.	G	32	5.131159	0.94473	.	.	ENSG00000129472	ENST00000397762;ENST00000304034	T	0.79653	-1.29	6.01	6.01	0.97437	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000001	T	0.74183	0.3683	N	0.25825	0.765	0.80722	D	1	B;B;P	0.39311	0.075;0.408;0.667	B;B;B	0.38056	0.19;0.264;0.258	T	0.77133	-0.2700	10	0.87932	D	0	.	19.2856	0.94067	0.0:0.0:1.0:0.0	.	141;95;76	Q8WUD1;B4DUD4;Q6NZ33	RAB2B_HUMAN;.;.	Y	141	ENSP00000380869:H141Y	ENSP00000302005:H141Y	H	-	1	0	RAB2B	21001708	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.113000	0.94321	2.850000	0.98022	0.655000	0.94253	CAT	RAB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000074053.4		-	ENST00000397762.1	Missense_Mutation	SNP	14 : 21931868 - 21931868 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	547	99
OR10J5	127385	broad.mit.edu	37	1	159505736	159505736	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159505736C>T	ENST00000334857.2	-	1	106	c.62G>A	c.(61-63)gGa>gAa	p.G21E		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					CTGATGCTTTCCAAAGCTAGA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	83	83			NA	NA	1		NA											NA				159505736		2203	4300	6503	SO:0001583	missense				CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155	127385	127385		GPCR / Class A : Olfactory receptors	14993	protein-coding gene	gene with protein product					NA		Standard	NM_001004469	NM_001004469	NA	Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.62G>A	1.37:g.159505736C>T	ENSP00000334441:p.Gly21Glu	NA	B9EH35|Q6IFH2	37	CCDS30910.1	.	.	.	.	.	.	.	.	.	.	C	1.214	-0.628761	0.03610	.	.	ENSG00000184155	ENST00000334857	T	0.03004	4.08	4.29	2.4	0.29515	.	.	.	.	.	T	0.00666	0.0022	N	0.21448	0.665	0.09310	N	1	B	0.16396	0.017	B	0.11329	0.006	T	0.47289	-0.9129	9	0.09338	T	0.73	.	3.2892	0.06943	0.2082:0.5749:0.0:0.2169	.	21	Q8NHC4	O10J5_HUMAN	E	21	ENSP00000334441:G21E	ENSP00000334441:G21E	G	-	2	0	OR10J5	157772360	0.000000	0.05858	0.545000	0.28153	0.476000	0.33039	-0.100000	0.10990	1.146000	0.42352	0.557000	0.71058	GGA	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059021.1		-	ENST00000334857.2	Missense_Mutation	SNP	1 : 159505736 - 159505736 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	648	108
CCT5	22948	broad.mit.edu	37	5	10261800	10261800	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10261800C>T	ENST00000280326.4	+	8	1542	c.1122C>T	c.(1120-1122)atC>atT	p.I374I	CCT5_ENST00000503026.1_Silent_p.I353I|CCT5_ENST00000515676.1_Silent_p.I336I|CCT5_ENST00000515390.1_Silent_p.I319I|CCT5_ENST00000506600.1_Silent_p.I281I	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	374					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						TGCTGGTCATCGAGCAGTGTA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	130	128			NA	NA	5		NA											NA				10261800		2203	4300	6503	SO:0001819	synonymous_variant			D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753	22948	22948		Heat Shock Proteins / Chaperonins	1618	protein-coding gene	gene with protein product		610150			NA		Standard		NM_012073	NA	Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.1122C>T	5.37:g.10261800C>T		NA	A8JZY8	37	CCDS3877.1																																																																																			CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253688.2		+	ENST00000280326.4	Silent	SNP	5 : 10261800 - 10261800 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	997	173
SLC25A22	79751	broad.mit.edu	37	11	792041	792041	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:792041C>T	ENST00000320230.5	-	10	1327	c.846G>A	c.(844-846)tcG>tcA	p.S282S	SLC25A22_ENST00000531214.1_Silent_p.S282S	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	282						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	TCAGGAAGGCCGAGGGGCCCT	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(93;848 1468 3270 23355 49636)							NA				0													16	16	16			NA	NA	11		NA											NA				792041		2191	4291	6482	SO:0001819	synonymous_variant			AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542	79751	79751		Solute carriers	19954	protein-coding gene	gene with protein product		609302			NA	11897791	Standard		NM_024698	NA	Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310	ENST00000320230.5:c.846G>A	11.37:g.792041C>T		NA	A8K366|Q8TBU8	37	CCDS7715.1																																																																																			SLC25A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257107.2		-	ENST00000320230.5	Silent	SNP	11 : 792041 - 792041 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	70	12
ZNF37A	7587	broad.mit.edu	37	10	38407455	38407455	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38407455G>A	ENST00000361085.5	+	7	1721	c.1376G>A	c.(1375-1377)aGa>aAa	p.R459K	ZNF37A_ENST00000351773.3_Missense_Mutation_p.R459K	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	NA						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						GAACATCTGAGAAGACACACA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	54	53			NA	NA	10		NA											NA				38407455		2203	4298	6501	SO:0001583	missense			X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407	7587	7587		Zinc fingers, C2H2-type, -	13102	protein-coding gene	gene with protein product			zinc finger protein 37a (KOX 21)		NA	2014798, 8464732	Standard	NM_003421	NM_001178101	NA	Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.1376G>A	10.37:g.38407455G>A	ENSP00000354377:p.Arg459Lys	NA	B3KRQ3|D3DRZ3|Q96B88	37	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954269	0.53293	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.18338	2.22;2.22	2.22	2.22	0.28083	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28566	0.0707	L	0.39326	1.205	0.25192	N	0.990129	D	0.71674	0.998	D	0.68483	0.958	T	0.05818	-1.0862	9	0.45353	T	0.12	.	10.0958	0.42475	0.0:0.0:1.0:0.0	.	459	P17032	ZN37A_HUMAN	K	459	ENSP00000329141:R459K;ENSP00000354377:R459K	ENSP00000329141:R459K	R	+	2	0	ZNF37A	38447461	0.003000	0.15002	0.998000	0.56505	0.984000	0.73092	1.232000	0.32636	1.246000	0.43901	0.591000	0.81541	AGA	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047624.2		+	ENST00000361085.5	Missense_Mutation	SNP	10 : 38407455 - 38407455 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	318	58
TCF20	6942	broad.mit.edu	37	22	42609324	42609324	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42609324C>T	ENST00000359486.3	-	1	2124	c.1988G>A	c.(1987-1989)aGc>aAc	p.S663N	TCF20_ENST00000335626.4_Missense_Mutation_p.S663N	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	663					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GTTTCCTTTGCTCCCTCCTCC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	92	101			NA	NA	22		NA											NA				42609324		2203	4300	6503	SO:0001583	missense			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207	6942	6942			11631	protein-coding gene	gene with protein product	stromelysin-1 platelet-derived growth factor-responsive element binding protein	603107			NA	9730594, 10995766	Standard	NM_181492	NM_005650	NA	Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.1988G>A	22.37:g.42609324C>T	ENSP00000352463:p.Ser663Asn	NA	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	37	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	C	7.809	0.715375	0.15306	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.59502	0.26;0.26	5.65	0.00184	0.14048	.	.	.	.	.	T	0.35566	0.0936	N	0.14661	0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.07888	-1.0749	9	0.36615	T	0.2	-0.3196	9.0709	0.36491	0.0:0.6288:0.0:0.3712	.	663;663	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	N	663	ENSP00000352463:S663N;ENSP00000335561:S663N	ENSP00000335561:S663N	S	-	2	0	TCF20	40939268	0.190000	0.23276	0.939000	0.37840	0.976000	0.68499	0.230000	0.17852	0.193000	0.20303	0.655000	0.94253	AGC	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320531.1		-	ENST00000359486.3	Missense_Mutation	SNP	22 : 42609324 - 42609324 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	476	86
MITD1	129531	broad.mit.edu	37	2	99797352	99797352	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99797352A>G	ENST00000289359.2	-	1	169	c.93T>C	c.(91-93)taT>taC	p.Y31Y	MRPL30_ENST00000410042.1_Intron	NM_138798.1	NP_620153.1	Q8WV92	MITD1_HUMAN	MIT, microtubule interacting and transport, domain containing 1	31	MIT.				protein transport	late endosome membrane				large_intestine(3)|lung(2)|ovary(1)	6						GAGCCTGCGGATACCGCGACT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	91	92			NA	NA	2		NA											NA				99797352		2203	4300	6503	SO:0001819	synonymous_variant			BC018453	CCDS2040.1	2q11.2	2006-07-14			ENSG00000158411	ENSG00000158411	129531	129531			25207	protein-coding gene	gene with protein product					NA	16730941	Standard	NM_138798	NM_138798	NA	Approved	LOC129531	uc002szs.1	Q8WV92	OTTHUMG00000130638	ENST00000289359.2:c.93T>C	2.37:g.99797352A>G		NA	Q69YV0	37	CCDS2040.1																																																																																			MITD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253126.1		-	ENST00000289359.2	Silent	SNP	2 : 99797352 - 99797352 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	605	151
SEZ6L	23544	broad.mit.edu	37	22	26761510	26761510	+	Silent	SNP	C	C	T	rs149968977		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26761510C>T	ENST00000360929.3	+	12	2736	c.2580C>T	c.(2578-2580)aaC>aaT	p.N860N	SEZ6L_ENST00000402979.1_Silent_p.N697N|SEZ6L_ENST00000411842.2_Silent_p.N121N|SEZ6L_ENST00000343706.4_Intron|SEZ6L_ENST00000529632.2_Silent_p.N924N|SEZ6L_ENST00000494013.1_3'UTR|SEZ6L_ENST00000404234.3_Silent_p.N924N|SEZ6L_ENST00000403121.1_Intron|SEZ6L_ENST00000248933.6_Silent_p.N924N	NM_001184776.1	NP_001171705.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	859	Sushi 4.					endoplasmic reticulum membrane|integral to membrane				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						CCCACTGGAACGGGCCCCTGC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,,,,	0,4406		0,0,2203	68	63	65		2772,2772,2772,2580,,2772	-2.9	1	22	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron,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	,,,,,	924/1024,924/1014,924/1012,860/950,,924/1025	26761510	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.2580C>T	22.37:g.26761510C>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 : 26761510 - 26761510 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	307	47
PDE3A	5139	broad.mit.edu	37	12	20769306	20769306	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20769306C>T	ENST00000359062.3	+	4	1452	c.1412C>T	c.(1411-1413)gCa>gTa	p.A471V	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	471					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CTGCAGGAAGCACCTTCATCC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	90	95			NA	NA	12		NA											NA				20769306		2203	4300	6503	SO:0001583	missense				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	5139	5139	3.1.4.17	Phosphodiesterases	8778	protein-coding gene	gene with protein product		123805			NA	1315035, 10679291	Standard		NM_000921	NA	Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1412C>T	12.37:g.20769306C>T	ENSP00000351957:p.Ala471Val	NA	O60865|Q13348|Q17RD1	37	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	6.689	0.495797	0.12762	.	.	ENSG00000172572	ENST00000359062	T	0.53640	0.61	5.26	4.3	0.51218	.	14.108600	0.00166	N	0.000000	T	0.40595	0.1123	L	0.38838	1.175	0.09310	N	1	P	0.46064	0.872	B	0.34418	0.182	T	0.48670	-0.9015	10	0.17832	T	0.49	.	15.6368	0.76961	0.0:0.8625:0.1375:0.0	.	471	Q14432	PDE3A_HUMAN	V	471	ENSP00000351957:A471V	ENSP00000351957:A471V	A	+	2	0	PDE3A	20660573	0.082000	0.21442	0.990000	0.47175	0.048000	0.14542	3.375000	0.52410	2.616000	0.88540	0.655000	0.94253	GCA	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401756.2		+	ENST00000359062.3	Missense_Mutation	SNP	12 : 20769306 - 20769306 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	436	77
TNXB	7148	broad.mit.edu	37	6	32036330	32036330	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32036330G>A	ENST00000375244.3	-	17	6258	c.6057C>T	c.(6055-6057)gtC>gtT	p.V2019V	TNXB_ENST00000375247.2_Silent_p.V2019V			P22105	TENX_HUMAN	tenascin XB	2101	Fibronectin type-III 12.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCCTGTACTGGACCAGGAAGT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	45	44			NA	NA	6		NA											NA				32036330		2006	4171	6177	SO:0001819	synonymous_variant			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477	7148	7148		Fibrinogen C domain containing, Fibronectin type III domain containing	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2	NA	8530023	Standard	NM_019105	NM_019105	NA	Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.6057C>T	6.37:g.32036330G>A		NA	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	37																																																																																				TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000268927.2		-	ENST00000375244.3	Silent	SNP	6 : 32036330 - 32036330 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	236	42
COX4I2	84701	broad.mit.edu	37	20	30232619	30232619	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30232619A>C	ENST00000376075.3	+	5	503	c.428A>C	c.(427-429)cAg>cCg	p.Q143P	COX4I2_ENST00000490030.1_3'UTR	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	143					cellular respiration		cytochrome-c oxidase activity			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			AAAGCCCAGCAGCTGCAGCGC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	73	78			NA	NA	20		NA											NA				30232619		2203	4300	6503	SO:0001583	missense			AF257180	CCDS13187.1	20q11.21	2011-07-04	2004-08-11		ENSG00000131055	ENSG00000131055	84701	84701		Mitochondrial respiratory chain complex / Complex IV	16232	protein-coding gene	gene with protein product	cytochrome c oxidase subunit IV-like 2	607976	cytochrome c oxidase subunit IV isoform 2	COX4L2	NA	11311561, 17937768	Standard	NM_032609	NM_032609	NA	Approved	COXIV-2, COX4B, dJ857M17.2, COX4-2	uc002wwj.1	Q96KJ9	OTTHUMG00000032180	ENST00000376075.3:c.428A>C	20.37:g.30232619A>C	ENSP00000365243:p.Gln143Pro	NA	Q6GTF4|Q9H0Z4	37	CCDS13187.1	.	.	.	.	.	.	.	.	.	.	A	16.61	3.170242	0.57584	.	.	ENSG00000131055	ENST00000376075	T	0.58358	0.34	4.38	4.38	0.52667	.	0.000000	0.64402	D	0.000001	T	0.73125	0.3547	M	0.87971	2.92	0.58432	D	0.999998	D	0.76494	0.999	D	0.91635	0.999	T	0.77186	-0.2680	10	0.72032	D	0.01	-13.3586	9.8851	0.41257	1.0:0.0:0.0:0.0	.	143	Q96KJ9	COX42_HUMAN	P	143	ENSP00000365243:Q143P	ENSP00000365243:Q143P	Q	+	2	0	COX4I2	29696280	1.000000	0.71417	1.000000	0.80357	0.443000	0.32047	7.631000	0.83237	1.840000	0.53500	0.260000	0.18958	CAG	COX4I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078548.1		+	ENST00000376075.3	Missense_Mutation	SNP	20 : 30232619 - 30232619 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	259	41
PTPN4	5775	broad.mit.edu	37	2	120718447	120718447	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120718447C>A	ENST00000263708.2	+	23	2969	c.2198C>A	c.(2197-2199)aCt>aAt	p.T733N	PTPN4_ENST00000544261.1_Missense_Mutation_p.T366N	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	733	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TTACCACACACTTGTACAGAT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	142	148			NA	NA	2		NA											NA				120718447		2203	4300	6503	SO:0001583	missense				CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179	5775	5775		Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor	9656	protein-coding gene	gene with protein product		176878			NA	1648233	Standard		NM_002830	NA	Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.2198C>A	2.37:g.120718447C>A	ENSP00000263708:p.Thr733Asn	NA	B2RBV8|Q9UDA7	37	CCDS2129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.1|29.1	4.978412|4.978412	0.92982|0.92982	.|.	.|.	ENSG00000088179|ENSG00000088179	ENST00000441089|ENST00000263708;ENST00000544261	T|D;D	0.14022|0.89552	2.54|-2.53;-2.53	5.78|5.78	5.78|5.78	0.91487|0.91487	.|Protein-tyrosine phosphatase, receptor/non-receptor type (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97660|0.97660	0.9233|0.9233	H|H	0.99811|0.99811	4.8|4.8	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.87578	.|0.998	D|D	0.99081|0.99081	1.0837|1.0837	7|10	0.72032|0.87932	D|D	0.01|0	.|.	20.0119|20.0119	0.97458|0.97458	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|733	.|P29074	.|PTN4_HUMAN	Q|N	16|733;366	ENSP00000394706:H16Q|ENSP00000263708:T733N;ENSP00000445841:T366N	ENSP00000394706:H16Q|ENSP00000263708:T733N	H|T	+|+	3|2	2|0	PTPN4|PTPN4	120434917|120434917	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.734000|7.734000	0.84928|0.84928	2.733000|2.733000	0.93635|0.93635	0.591000|0.591000	0.81541|0.81541	CAC|ACT	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254233.2		+	ENST00000263708.2	Missense_Mutation	SNP	2 : 120718447 - 120718447 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	633	67
YOD1	55432	broad.mit.edu	37	1	207222956	207222956	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207222956G>A	ENST00000367084.1	-	4	528	c.324C>T	c.(322-324)acC>acT	p.T108T	YOD1_ENST00000315927.4_Silent_p.T152T|PFKFB2_ENST00000411990.2_5'UTR|YOD1_ENST00000391927.1_Silent_p.T108T	NM_001276320.1	NP_001263249.1	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	152	UBX-like.				cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					CTGGGACCACGGTTCTGGTAA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	64	67			NA	NA	1		NA											NA				207222956		2203	4300	6503	SO:0001819	synonymous_variant				CCDS31002.1, CCDS60402.1	1q32.2	2013-06-04	2013-06-04		ENSG00000180667	ENSG00000180667	55432	55432		OTU domain containing	25035	protein-coding gene	gene with protein product		612023	YOD1 OTU deubiquinating enzyme 1 homolog ( yeast), YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae)		NA		Standard	NM_018566	NM_001276320	NA	Approved	DKFZp451J1719, OTUD2, DUBA8	uc001hfe.1	Q5VVQ6	OTTHUMG00000036032	ENST00000367084.1:c.324C>T	1.37:g.207222956G>A		NA	B2RNX3|Q5VVQ5|Q6ZRS6|Q86T63|Q9P1L8	37																																																																																				YOD1-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000087836.1		-	ENST00000367084.1	Silent	SNP	1 : 207222956 - 207222956 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	260	63
SEMA5B	54437	broad.mit.edu	37	3	122634371	122634371	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122634371C>T	ENST00000357599.3	-	14	2290	c.1904G>A	c.(1903-1905)cGa>cAa	p.R635Q	SEMA5B_ENST00000451055.2_Missense_Mutation_p.R689Q|SEMA5B_ENST00000195173.4_Missense_Mutation_p.R635Q	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	635					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGATCGAGCTCGACACAGGCA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	68	69			NA	NA	3		NA											NA				122634371		2203	4300	6503	SO:0001583	missense			AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684	54437	54437		Semaphorins	10737	protein-coding gene	gene with protein product		609298		SEMAG	NA	8817451	Standard	NM_001031702	NM_001256346	NA	Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1904G>A	3.37:g.122634371C>T	ENSP00000350215:p.Arg635Gln	NA	A8K5U2|Q6DD89|Q6UY12|Q9NW17	37	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626479	0.66901	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	4.88	3.97	0.46021	.	0.056769	0.64402	N	0.000001	T	0.69269	0.3092	M	0.87381	2.88	0.58432	D	0.999992	D;B;B	0.89917	1.0;0.088;0.088	D;B;B	0.97110	1.0;0.05;0.05	T	0.71344	-0.4621	10	0.45353	T	0.12	.	10.3826	0.44121	0.0:0.8989:0.0:0.1011	.	577;635;635	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	Q	635;635;577;689;635	ENSP00000350215:R635Q;ENSP00000195173:R635Q;ENSP00000389588:R689Q;ENSP00000377208:R635Q	ENSP00000195173:R635Q	R	-	2	0	SEMA5B	124117061	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	4.785000	0.62418	1.180000	0.42898	0.561000	0.74099	CGA	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277165.1		-	ENST00000357599.3	Missense_Mutation	SNP	3 : 122634371 - 122634371 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	282	55
NCKAP1	10787	broad.mit.edu	37	2	183867735	183867735	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183867735A>G	ENST00000361354.4	-	4	708	c.336T>C	c.(334-336)aaT>aaC	p.N112N	NCKAP1_ENST00000360982.2_Silent_p.N118N	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	NA					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CGTCAATAGTATTCAGCAATT	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	46	46			NA	NA	2		NA											NA				183867735		2203	4296	6499	SO:0001819	synonymous_variant			AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676	10787	10787			7666	protein-coding gene	gene with protein product		604891			NA	10673335, 12181570, 9344857	Standard	NM_205842	NM_013436	NA	Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.336T>C	2.37:g.183867735A>G		NA	O60329|Q53QN5|Q53S94|Q53Y35	37	CCDS2287.1																																																																																			NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255867.2		-	ENST00000361354.4	Silent	SNP	2 : 183867735 - 183867735 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	188	9
CHD5	26038	broad.mit.edu	37	1	6190296	6190296	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6190296C>T	ENST00000262450.3	-	22	3454	c.3355G>A	c.(3355-3357)Gac>Aac	p.D1119N	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1119	Helicase C-terminal.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CAGTCCGAGTCGTAGATGATG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	99	103			NA	NA	1		NA											NA				6190296		2203	4300	6503	SO:0001583	missense			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254	26038	26038		Zinc fingers, PHD-type	16816	protein-coding gene	gene with protein product		610771			NA	11889561, 12592387	Standard	NM_015557	NM_015557	NA	Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.3355G>A	1.37:g.6190296C>T	ENSP00000262450:p.Asp1119Asn	NA	O75032|Q5TG89|Q7LGH2|Q9UFR9	37	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	35	5.447517	0.96205	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	T	0.81330	-1.48	4.81	4.81	0.61882	Helicase, C-terminal (3);	0.000000	0.64402	D	0.000001	D	0.93648	0.7971	H	0.97365	3.99	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.96007	0.8998	10	0.87932	D	0	-40.3082	18.2593	0.90030	0.0:1.0:0.0:0.0	.	1119	Q8TDI0	CHD5_HUMAN	N	1119;635;527;527	ENSP00000262450:D1119N	ENSP00000262450:D1119N	D	-	1	0	CHD5	6112883	1.000000	0.71417	0.992000	0.48379	0.974000	0.67602	7.699000	0.84547	2.380000	0.81148	0.561000	0.74099	GAC	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000002823.2		-	ENST00000262450.3	Missense_Mutation	SNP	1 : 6190296 - 6190296 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	427	39
CITED2	10370	broad.mit.edu	37	6	139694740	139694740	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139694740C>T	ENST00000367651.2	-	2	557	c.342G>A	c.(340-342)atG>atA	p.M114I	CITED2_ENST00000536159.1_Missense_Mutation_p.M114I|CITED2_ENST00000537332.1_Missense_Mutation_p.M114I	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	114					adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		TCTGCAGCTGCATGCTGGCCG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(98;1219 1550 33720 43229 49330)							NA				0													93	104	100			NA	NA	6		NA											NA				139694740		2203	4300	6503	SO:0001583	missense			U65093	CCDS5195.1, CCDS75530.1	6q23.3	2008-08-29			ENSG00000164442	ENSG00000164442	10370	10370			1987	protein-coding gene	gene with protein product		602937			NA	8901575, 10552932	Standard		NM_006079	NA	Approved	MRG1	uc021zfz.2	Q99967	OTTHUMG00000015691	ENST00000367651.2:c.342G>A	6.37:g.139694740C>T	ENSP00000356623:p.Met114Ile	NA	O95426|Q5VTF4	37	CCDS5195.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.400326	0.42613	.	.	ENSG00000164442	ENST00000367651;ENST00000536159;ENST00000537332;ENST00000392312	T;T;T	0.69685	-0.42;-0.42;-0.42	5.18	5.18	0.71444	.	0.121048	0.51477	D	0.000081	T	0.59335	0.2186	M	0.62723	1.935	0.80722	D	1	P	0.48162	0.906	B	0.43575	0.424	T	0.62595	-0.6821	9	.	.	.	-3.6977	18.6953	0.91599	0.0:1.0:0.0:0.0	.	114	Q99967	CITE2_HUMAN	I	114	ENSP00000356623:M114I;ENSP00000442831:M114I;ENSP00000444198:M114I	.	M	-	3	0	CITED2	139736433	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.878000	0.75567	2.431000	0.82371	0.462000	0.41574	ATG	CITED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042463.1		-	ENST00000367651.2	Missense_Mutation	SNP	6 : 139694740 - 139694740 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	382	76
RPRD1B	58490	broad.mit.edu	37	20	36662454	36662454	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36662454G>A	ENST00000373433.4	+	1	507	c.105G>A	c.(103-105)aaG>aaA	p.K35K		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	35	CID.									endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						ACCACCGCAAGCACGCGGGAC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	88	90			NA	NA	20		NA											NA				36662454		2203	4300	6503	SO:0001819	synonymous_variant			AL109823	CCDS13301.1	20q11.21-q12	2012-02-09	2008-08-15	2008-07-28	ENSG00000101413	ENSG00000101413	58490	58490			16209	protein-coding gene	gene with protein product		614694	chromosome 20 open reading frame 77	C20orf77	NA	22231121	Standard	NM_021215	NM_021215	NA	Approved	dJ1057B20.2, DKFZp434P0735, CREPT, FLJ44520, NET60	uc002xho.4	Q9NQG5	OTTHUMG00000032434	ENST00000373433.4:c.105G>A	20.37:g.36662454G>A		NA	Q1WDE7|Q6PKF4	37	CCDS13301.1																																																																																			RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079142.2		+	ENST00000373433.4	Silent	SNP	20 : 36662454 - 36662454 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	693	116
FAM208B	54906	broad.mit.edu	37	10	5788959	5788959	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5788959G>A	ENST00000328090.5	+	15	4200	c.3575G>A	c.(3574-3576)gGc>gAc	p.G1192D		NM_017782.4	NP_060252	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1192											NA						AGTCTCCTCGGCCTATCTTCA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	89	88			NA	NA	10		NA											NA				5788959		2005	4177	6182	SO:0001583	missense			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021	54906	54906			23484	protein-coding gene	gene with protein product			chromosome 10 open reading frame 18	C10orf18	NA	12477932	Standard	NM_017782	NM_017782	NA	Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.3575G>A	10.37:g.5788959G>A	ENSP00000328426:p.Gly1192Asp	NA	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	37	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	G	7.394	0.631396	0.14322	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.04502	3.61	5.67	4.75	0.60458	.	0.080279	0.53938	D	0.000052	T	0.04770	0.0129	L	0.34521	1.04	0.09310	N	1	B	0.23058	0.079	B	0.14023	0.01	T	0.35051	-0.9804	10	0.29301	T	0.29	.	12.5872	0.56424	0.0:0.1669:0.8331:0.0	.	1192	Q5VWN6	F208B_HUMAN	D	1192;387	ENSP00000328426:G1192D	ENSP00000328426:G1192D	G	+	2	0	C10orf18	5828965	0.008000	0.16893	0.014000	0.15608	0.001000	0.01503	1.665000	0.37449	1.364000	0.46038	0.591000	0.81541	GGC	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046571.2		+	ENST00000328090.5	Missense_Mutation	SNP	10 : 5788959 - 5788959 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	484	97
TSSK6	83983	broad.mit.edu	37	19	19625951	19625951	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19625951C>A	ENST00000360913.3	-	1	887	c.286G>T	c.(286-288)Gac>Tac	p.D96Y	TSSK6_ENST00000585580.3_Missense_Mutation_p.D96Y			Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	96	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						TGCAGCAGGTCGGTGGCGGCC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	41	41			NA	NA	19		NA											NA				19625951		2203	4300	6503	SO:0001583	missense			AK172841	CCDS12403.1	19p13.11	2009-03-12				ENSG00000178093	83983	83983			30410	protein-coding gene	gene with protein product	cancer/testis antigen 72	610712			NA	15044604	Standard	NM_032037	NM_032037	NA	Approved	SSTK, FLJ24002, CT72	uc002nmr.3	Q9BXA6		ENST00000360913.3:c.286G>T	19.37:g.19625951C>A	ENSP00000354168:p.Asp96Tyr	NA	B2R9F8|Q6ZMC4|Q96LJ4	37	CCDS12403.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973641	0.53720	.	.	ENSG00000178093	ENST00000360913	T	0.29655	1.56	4.85	3.81	0.43845	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.43747	U	0.000534	T	0.60818	0.2298	M	0.93550	3.43	0.54753	D	0.99998	D	0.89917	1.0	D	0.91635	0.999	T	0.67692	-0.5605	10	0.87932	D	0	.	8.1209	0.30971	0.0:0.8907:0.0:0.1093	.	96	Q9BXA6	TSSK6_HUMAN	Y	96	ENSP00000354168:D96Y	ENSP00000354168:D96Y	D	-	1	0	TSSK6	19486951	0.991000	0.36638	1.000000	0.80357	0.253000	0.25986	2.936000	0.48971	2.252000	0.74401	0.306000	0.20318	GAC	TSSK6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459733.3		-	ENST00000360913.3	Missense_Mutation	SNP	19 : 19625951 - 19625951 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	380	63
TTN	7273	broad.mit.edu	37	2	179577471	179577471	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179577471C>T	ENST00000589042.1	-	94	27505	c.27281G>A	c.(27280-27282)aGc>aAc	p.S9094N	TTN_ENST00000591111.1_Missense_Mutation_p.S8777N|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S7850N|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8777	Ig-like 74.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCTTCATTGCTAACTATGCA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	90	91			NA	NA	2		NA											NA				179577471		1906	4119	6025	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.27281G>A	2.37:g.179577471C>T	ENSP00000467141:p.Ser9094Asn	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	9.939	1.217070	0.22373	.	.	ENSG00000155657	ENST00000342992	T	0.68025	-0.3	5.48	2.44	0.29823	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73087	0.3542	M	0.81802	2.56	0.09310	N	0.999999	B	0.25048	0.117	B	0.33196	0.159	T	0.69331	-0.5173	9	0.87932	D	0	.	17.1553	0.86790	0.0:0.5105:0.4895:0.0	.	8777	Q8WZ42	TITIN_HUMAN	N	7850	ENSP00000343764:S7850N	ENSP00000343764:S7850N	S	-	2	0	TTN	179285716	0.000000	0.05858	0.387000	0.26183	0.986000	0.74619	0.215000	0.17562	0.746000	0.32786	0.655000	0.94253	AGC	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179577471 - 179577471 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	372	55
ACOX3	8310	broad.mit.edu	37	4	8390958	8390958	+	Silent	SNP	G	G	A	rs113402127		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8390958G>A	ENST00000356406.5	-	13	1556	c.1479C>T	c.(1477-1479)ccC>ccT	p.P493P	ACOX3_ENST00000503233.1_Silent_p.P493P|ACOX3_ENST00000413009.2_Silent_p.P493P	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	493					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CAAGGATGCCGGGATAGGCGT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	1,4405	2.1+/-5.4	0,1,2202	78	73	75		1479,1479	-5.8	0	4	dbSNP_132	75	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ACOX3	NM_001101667.1,NM_003501.2	,	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	,	493/625,493/701	8390958	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	8310	8310	1.3.3.6		121	protein-coding gene	gene with protein product		603402	acyl-Coenzyme A oxidase 3, pristanoyl		NA	9271077	Standard		NM_003501	NA	Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.1479C>T	4.37:g.8390958G>A		NA	Q96AJ8	37	CCDS3401.1																																																																																			ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206997.4		-	ENST00000356406.5	Silent	SNP	4 : 8390958 - 8390958 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	165	37
DNAH17	8632	broad.mit.edu	37	17	76482324	76482324	+	Silent	SNP	G	G	T	rs141022219	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76482324G>T	ENST00000585328.1	-	45	7192	c.7068C>A	c.(7066-7068)ggC>ggA	p.G2356G	RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000389840.5_Silent_p.G2347G|RP11-559N14.5_ENST00000588565.1_RNA|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3			dynein, axonemal, heavy chain 17	NA										NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGAACATGGCGCCACCGAAGG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	39	38			NA	NA	17		NA											NA				76482324		2005	4149	6154	SO:0001819	synonymous_variant			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775	8632	8632		Axonemal dyneins	2946	protein-coding gene	gene with protein product		610063	dynein, axonemal, heavy polypeptide 17, dynein, axonemal, heavy chain like 1, dynein, axonemal, heavy like 1	DNAHL1	NA	9545504	Standard	NM_173628	NM_173628	NA	Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.7068C>A	17.37:g.76482324G>T		NA		37																																																																																				DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000318962.2		-	ENST00000585328.1	Silent	SNP	17 : 76482324 - 76482324 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	240	43
UNC93A	54346	broad.mit.edu	37	6	167708179	167708179	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:167708179G>A	ENST00000230256.3	+	2	437	c.262G>A	c.(262-264)Gcc>Acc	p.A88T	UNC93A_ENST00000366830.2_3'UTR|UNC93A_ENST00000366829.2_Missense_Mutation_p.A88T	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	88						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CAACTTCTTCGCCAGCTGGTA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA,THR/ALA	0,4406		0,0,2203	151	142	145		262,262	3.7	0.8	6		145	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	UNC93A	NM_001143947.1,NM_018974.3	58,58	0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	88/416,88/458	167708179	2,13004	2203	4300	6503	SO:0001583	missense			AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494	54346	54346			12570	protein-coding gene	gene with protein product		607995	unc93 (C.elegans) homolog A		NA	12381271	Standard	NM_018974	NM_001143947	NA	Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.262G>A	6.37:g.167708179G>A	ENSP00000230256:p.Ala88Thr	NA	B3KRP5|Q5JZD6	37	CCDS5300.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.491407	0.44249	0.0	2.33E-4	ENSG00000112494	ENST00000503433;ENST00000230256;ENST00000366829	D;D;D	0.83673	-1.75;-1.75;-1.75	4.66	3.72	0.42706	Major facilitator superfamily domain, general substrate transporter (1);	0.115273	0.64402	D	0.000015	T	0.80984	0.4729	M	0.70275	2.135	0.49213	D	0.999765	P;P	0.48230	0.882;0.907	B;P	0.49276	0.418;0.605	T	0.82092	-0.0628	10	0.45353	T	0.12	-26.7025	13.2564	0.60081	0.0:0.1604:0.8396:0.0	.	88;88	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	T	88	ENSP00000421484:A88T;ENSP00000230256:A88T;ENSP00000355794:A88T	ENSP00000230256:A88T	A	+	1	0	UNC93A	167628169	0.991000	0.36638	0.833000	0.33012	0.410000	0.31052	2.345000	0.44018	2.124000	0.65301	0.313000	0.20887	GCC	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043125.2		+	ENST00000230256.3	Missense_Mutation	SNP	6 : 167708179 - 167708179 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	934	69
NUMA1	4926	broad.mit.edu	37	11	71726974	71726974	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71726974C>T	ENST00000393695.3	-	15	1906	c.1575G>A	c.(1573-1575)aaG>aaA	p.K525K	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Silent_p.K525K|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	525					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGGCCTGCTGCTTCAGGCCAG	0.607		NA	T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0													134	124	127			NA	NA	11		NA											NA				71726974		2200	4293	6493	SO:0001819	synonymous_variant			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497	NA	4926			8059	protein-coding gene	gene with protein product		164009			NA	8406455	Standard		NM_006185	NA	Approved		uc001orl.1	Q14980		ENST00000393695.3:c.1575G>A	11.37:g.71726974C>T		1132	Q14981	37	CCDS31633.1																																																																																			NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395769.1		-	ENST00000393695.3	Silent	SNP	11 : 71726974 - 71726974 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1058	225
MED1	5469	broad.mit.edu	37	17	37564749	37564749	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37564749C>T	ENST00000394287.3	-	17	1846				MED1_ENST00000300651.6_Missense_Mutation_p.G1242D			Q15648	MED1_HUMAN	mediator complex subunit 1	NA					androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TGACTTCATGCCAGAGCTTGA	0.488		NA								HNSCC(31;0.082)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(21;279 768 2492 4877 24026)							NA				0													89	88	88			NA	NA	17		NA											NA				37564749		2203	4300	6503	SO:0001627	intron_variant			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686	5469	5469			9234	protein-coding gene	gene with protein product		604311	PPAR binding protein	TRIP2, PPARGBP, PPARBP	NA	9325263, 10485914	Standard	NM_004774	NM_004774	NA	Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.1640+2084G>A	17.37:g.37564749C>T		NA	A2RRQ6|O43810|O75447|Q6P9H7|Q6PK58|Q9HD39	37		.	.	.	.	.	.	.	.	.	.	C	12.82	2.054042	0.36277	.	.	ENSG00000125686	ENST00000300651	T	0.53423	0.62	5.35	4.38	0.52667	.	.	.	.	.	T	0.24353	0.0590	N	0.08118	0	0.38521	D	0.948728	B	0.27853	0.191	B	0.23275	0.045	T	0.12915	-1.0529	9	0.19147	T	0.46	-1.542	9.8581	0.41098	0.0:0.7876:0.1396:0.0728	.	1242	Q15648	MED1_HUMAN	D	1242	ENSP00000300651:G1242D	ENSP00000300651:G1242D	G	-	2	0	MED1	34818275	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.878000	0.48515	1.620000	0.50308	0.655000	0.94253	GGC	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000256944.1		-	ENST00000394287.3	Intron	SNP	17 : 37564749 - 37564749 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	316	73
N4BP1	9683	broad.mit.edu	37	16	48587468	48587468	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48587468G>A	ENST00000262384.3	-	3	2238	c.2002C>T	c.(2002-2004)Cgt>Tgt	p.R668C		NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	668					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TTAGGATCACGCCTTGTTCTC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/ARG	0,3780		0,0,1890	66	61	63		2002	5.9	0.9	16		63	1,8241		0,1,4120	no	missense	N4BP1	NM_153029.3	180	0,1,6010	AA,AG,GG	NA	0.0121,0.0,0.0083	probably-damaging	668/897	48587468	1,12021	1890	4121	6011	SO:0001583	missense			AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921	9683	9683			29850	protein-coding gene	gene with protein product					NA	9734811, 11717310	Standard	NM_014664	NM_153029	NA	Approved		uc002efp.3	O75113		ENST00000262384.3:c.2002C>T	16.37:g.48587468G>A	ENSP00000262384:p.Arg668Cys	NA	A7MD49|Q2YDX1	37	CCDS45479.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829345	0.71258	0.0	1.21E-4	ENSG00000102921	ENST00000262384	T	0.44881	0.91	5.93	5.93	0.95920	Ribonuclease Zc3h12a-like (1);	0.048713	0.85682	D	0.000000	T	0.64305	0.2586	M	0.71581	2.175	0.58432	D	0.99999	D	0.76494	0.999	D	0.80764	0.994	T	0.64778	-0.6327	10	0.62326	D	0.03	-17.7326	15.8935	0.79318	0.0:0.0:0.8641:0.1359	.	668	O75113	N4BP1_HUMAN	C	668	ENSP00000262384:R668C	ENSP00000262384:R668C	R	-	1	0	N4BP1	47144969	0.996000	0.38824	0.925000	0.36789	0.994000	0.84299	3.647000	0.54403	2.814000	0.96858	0.655000	0.94253	CGT	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000429920.1		-	ENST00000262384.3	Missense_Mutation	SNP	16 : 48587468 - 48587468 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	143	28
ADARB1	104	broad.mit.edu	37	21	46600335	46600335	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46600335C>A	ENST00000348831.4	+	5	1467	c.1054C>A	c.(1054-1056)Ctg>Atg	p.L352M	ADARB1_ENST00000360697.3_Missense_Mutation_p.L352M|ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000539173.1_Missense_Mutation_p.L352M|ADARB1_ENST00000389863.4_Missense_Mutation_p.L352M	NM_001112.3|NM_001160230.1	NP_001103.1|NP_001153702.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	352					adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		CAGAAAAGTGCTGGCTGGAGT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	82	97			NA	NA	21		NA											NA				46600335		2203	4300	6503	SO:0001583	missense			U76420	CCDS33589.1, CCDS33590.1, CCDS42970.1	21q22.3	2012-03-22	2010-06-24		ENSG00000197381	ENSG00000197381	104	104	3.5.-.-		226	protein-coding gene	gene with protein product	RED1 homolog (rat)	601218	adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)		NA	9143496, 14759252	Standard	NM_015833	NR_027672	NA	Approved	ADAR2, DRADA2, ADAR2g, DRABA2, RED1, hRED1, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2a, ADAR2b, ADAR2c, ADAR2d	uc002zgy.2	P78563	OTTHUMG00000090295	ENST00000348831.4:c.1054C>A	21.37:g.46600335C>A	ENSP00000015877:p.Leu352Met	NA	A6NFK8|A6NJ84|C3TTQ1|O00395|O00465|O00691|O00692|P78555|Q4AE79|Q8NFD1	37	CCDS33590.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028386	0.75390	.	.	ENSG00000197381	ENST00000539173;ENST00000539917;ENST00000389863;ENST00000348831;ENST00000360697	T;T;T;T	0.49432	0.79;0.78;0.8;0.79	5.47	5.47	0.80525	Adenosine deaminase/editase (1);	0.000000	0.85682	D	0.000000	T	0.72095	0.3418	M	0.83483	2.645	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	D;D;D;D	0.91635	0.999;0.995;0.999;0.984	T	0.75780	-0.3197	10	0.87932	D	0	-31.6681	17.2115	0.86931	0.0:1.0:0.0:0.0	.	352;352;380;352	P78563;Q4AE77;G5E9B4;P78563-3	RED1_HUMAN;.;.;.	M	352	ENSP00000441897:L352M;ENSP00000374513:L352M;ENSP00000015877:L352M;ENSP00000353920:L352M	ENSP00000015877:L352M	L	+	1	2	ADARB1	45424763	1.000000	0.71417	0.616000	0.29078	0.696000	0.40369	4.579000	0.60936	2.748000	0.94277	0.655000	0.94253	CTG	ADARB1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269059.1		+	ENST00000348831.4	Missense_Mutation	SNP	21 : 46600335 - 46600335 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	124	8
ARHGAP6	395	broad.mit.edu	37	X	11160378	11160378	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:11160378G>A	ENST00000337414.4	-	12	3104	c.2232C>T	c.(2230-2232)agC>agT	p.S744S	ARHGAP6_ENST00000534860.1_Silent_p.S569S|ARHGAP6_ENST00000303025.6_Silent_p.S541S|ARHGAP6_ENST00000380736.1_Silent_p.S541S	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	744					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	p.S744S(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTTTGGATCCGCTTTTTAATG	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											104	102	103			NA	NA	X		NA											NA				11160378		2203	4300	6503	SO:0001819	synonymous_variant			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648	395	395		Rho GTPase activating proteins	676	protein-coding gene	gene with protein product		300118			NA	9417914	Standard	NM_013427	XM_005274507	NA	Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.2232C>T	X.37:g.11160378G>A		NA	B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	37	CCDS14140.1																																																																																			ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055760.2		-	ENST00000337414.4	Silent	SNP	X : 11160378 - 11160378 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	342	85
ST6GALNAC4	27090	broad.mit.edu	37	9	130674853	130674853	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130674853C>T	ENST00000335791.5	-	4	580	c.305G>A	c.(304-306)cGc>cAc	p.R102H	ST6GALNAC4_ENST00000495983.1_5'UTR|ST6GALNAC4_ENST00000343609.2_Missense_Mutation_p.R18H	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4	102					glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						CTGGTTCATGCGGAACACGCA	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	40	41			NA	NA	9		NA											NA				130674853		2203	4299	6502	SO:0001583	missense			AB035172	CCDS6883.1	9q34	2013-03-01	2005-02-07	2005-02-07	ENSG00000136840	ENSG00000136840	27090	27090	2.4.99.7	Sialyltransferases	17846	protein-coding gene	gene with protein product		606378	sialyltransferase 7D ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)	SIAT7D	NA	10207017, 11062056	Standard	NM_175040	XM_005251922	NA	Approved	ST6GALNACIV, SIAT3C	uc004bss.3	Q9H4F1	OTTHUMG00000020724	ENST00000335791.5:c.305G>A	9.37:g.130674853C>T	ENSP00000336733:p.Arg102His	NA	Q5T9D0|Q9NWU6|Q9UKU1|Q9ULB9|Q9Y3G3|Q9Y3G4	37	CCDS6883.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922318	0.92319	.	.	ENSG00000136840	ENST00000541933;ENST00000335791;ENST00000343609;ENST00000361444	T;T;T	0.68624	-0.34;-0.34;-0.34	5.58	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.85186	0.5639	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88303	0.2951	10	0.87932	D	0	-5.3386	12.9615	0.58462	0.0:0.9221:0.0:0.0779	.	102	Q9H4F1	SIA7D_HUMAN	H	18;102;18;18	ENSP00000336733:R102H;ENSP00000340382:R18H;ENSP00000355130:R18H	ENSP00000336733:R102H	R	-	2	0	ST6GALNAC4	129714674	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.973000	0.63763	2.632000	0.89209	0.462000	0.41574	CGC	ST6GALNAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054317.2		-	ENST00000335791.5	Missense_Mutation	SNP	9 : 130674853 - 130674853 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	55
CBFA2T3	863	broad.mit.edu	37	16	88951484	88951484	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88951484G>A	ENST00000268679.4	-	7	1483	c.1087C>T	c.(1087-1089)Cgg>Tgg	p.R363W	CBFA2T3_ENST00000436887.2_Missense_Mutation_p.R325W|RP11-830F9.5_ENST00000565053.1_RNA|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.R277W|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.R277W|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.R287W	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	363	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CGTAGCTCCCGGGGGTCTGGG	0.687		NA	T	RUNX1	AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		16	16q24	863	core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)		L	0								G	TRP/ARG,TRP/ARG	0,4378		0,0,2189	59	55	56		1087,829	4.1	1	16		56	1,8583	1.2+/-3.3	0,1,4291	no	missense,missense	CBFA2T3	NM_005187.5,NM_175931.2	101,101	0,1,6480	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging	363/654,277/568	88951484	1,12961	2189	4292	6481	SO:0001583	missense			AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993	863	863		Zinc fingers, MYND-type, A-kinase anchor proteins	1537	protein-coding gene	gene with protein product	myeloid translocation gene 8 and 16b	603870			NA	9790752, 20150326	Standard	NM_005187	NM_005187	NA	Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.1087C>T	16.37:g.88951484G>A	ENSP00000268679:p.Arg363Trp	NA	D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	37	CCDS10972.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133312	0.56828	0.0	1.16E-4	ENSG00000129993	ENST00000327483;ENST00000268679;ENST00000436887;ENST00000448839;ENST00000360302	T;T;T;T;T	0.57273	1.04;0.41;0.69;1.04;1.04	4.12	4.12	0.48240	.	0.331834	0.26719	N	0.022859	T	0.69931	0.3166	M	0.78637	2.42	0.47905	D	0.999547	D;D;D;D	0.76494	0.999;0.997;0.995;0.997	P;P;P;P	0.60415	0.874;0.614;0.762;0.858	T	0.76457	-0.2952	10	0.87932	D	0	-13.385	16.5087	0.84278	0.0:0.0:1.0:0.0	.	325;363;363;277	E7EU24;B2RBQ7;O75081;O75081-2	.;.;MTG16_HUMAN;.	W	277;363;325;287;277	ENSP00000332122:R277W;ENSP00000268679:R363W;ENSP00000395739:R325W;ENSP00000401254:R287W;ENSP00000353449:R277W	ENSP00000268679:R363W	R	-	1	2	CBFA2T3	87478985	1.000000	0.71417	0.967000	0.41034	0.075000	0.17131	1.216000	0.32443	2.282000	0.76494	0.561000	0.74099	CGG	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269545.2		-	ENST00000268679.4	Missense_Mutation	SNP	16 : 88951484 - 88951484 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	269	80
SLC4A5	57835	broad.mit.edu	37	2	74491387	74491387	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74491387C>T	ENST00000394019.2	-	10	999	c.602G>A	c.(601-603)cGg>cAg	p.R201Q	SLC4A5_ENST00000377634.4_Missense_Mutation_p.R201Q|SLC4A5_ENST00000359484.4_Missense_Mutation_p.R137Q|SLC4A5_ENST00000357822.5_Missense_Mutation_p.R201Q|SLC4A5_ENST00000358683.4_Missense_Mutation_p.R137Q|SLC4A5_ENST00000346834.4_Missense_Mutation_p.R201Q|SLC4A5_ENST00000423644.1_Missense_Mutation_p.R201Q|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.R201Q|SLC4A5_ENST00000483195.1_5'UTR	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	201						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GAGCTCTGGCCGCAGGAGACC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	121	126			NA	NA	2		NA											NA				74491387		2203	4300	6503	SO:0001583	missense			AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687	57835	57835		Solute carriers	18168	protein-coding gene	gene with protein product		606757	solute carrier family 4, sodium bicarbonate cotransporter, member 5		NA	10978526, 11087115	Standard		NM_133478	NA	Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000394019.2:c.602G>A	2.37:g.74491387C>T	ENSP00000377587:p.Arg201Gln	NA	Q32MA7|Q59EQ9|Q8WXD3|Q8WXD7|Q96DS7|Q96DS8|Q9HBU5	37	CCDS1937.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817884	0.32145	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249;ENST00000432728	T;T;T;T;T;T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31	4.72	3.83	0.44106	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.504521	0.21862	N	0.068009	T	0.64294	0.2585	N	0.25286	0.73	0.09310	N	1	B;P;B;P;B	0.39520	0.054;0.676;0.184;0.529;0.287	B;B;B;B;B	0.37047	0.04;0.24;0.103;0.131;0.13	T	0.57219	-0.7849	10	0.39692	T	0.17	.	6.4309	0.21796	0.0:0.8083:0.0:0.1917	.	201;201;137;201;201	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	Q	201;201;201;137;201;137;201;201;201;201;85	ENSP00000377587:R201Q;ENSP00000251768:R201Q;ENSP00000352461:R137Q;ENSP00000395804:R201Q;ENSP00000351513:R137Q;ENSP00000350475:R201Q;ENSP00000366859:R201Q;ENSP00000366861:R201Q;ENSP00000405678:R201Q;ENSP00000414162:R85Q	ENSP00000251768:R201Q	R	-	2	0	SLC4A5	74344895	0.974000	0.33945	0.952000	0.39060	0.336000	0.28762	3.325000	0.52030	2.589000	0.87451	0.655000	0.94253	CGG	SLC4A5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206584.2		-	ENST00000394019.2	Missense_Mutation	SNP	2 : 74491387 - 74491387 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	48
TEX13A	56157	broad.mit.edu	37	X	104464827	104464827	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:104464827T>C	ENST00000372578.3	-	2	366	c.255A>G	c.(253-255)ctA>ctG	p.L85L	TEX13A_ENST00000413579.1_Silent_p.L85L|TEX13A_ENST00000372575.1_Silent_p.L85L|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	85						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TGTGCCTTTGTAGCTGTGCCT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	33	33			NA	NA	X		NA											NA				104464827		2203	4293	6496	SO:0001819	synonymous_variant			AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629	56157	56157			11735	protein-coding gene	gene with protein product		300312	testis expressed sequence 13A		NA	11279525	Standard	NM_031274	NM_031274	NA	Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000372578.3:c.255A>G	X.37:g.104464827T>C		NA	B1B1G8|Q32NB6	37																																																																																				TEX13A-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000057774.1		-	ENST00000372578.3	Silent	SNP	X : 104464827 - 104464827 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	165	63
NMT1	4836	broad.mit.edu	37	17	43181223	43181223	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43181223C>T	ENST00000592782.1	+	11	1442	c.1311C>T	c.(1309-1311)gaC>gaT	p.D437D	NMT1_ENST00000258960.2_Silent_p.D437D			P30419	NMT1_HUMAN	N-myristoyltransferase 1	437					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				TCATGAGCGACGCCCTTGTCC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													226	220	222			NA	NA	17		NA											NA				43181223		2203	4300	6503	SO:0001819	synonymous_variant				CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448	4836	4836			7857	protein-coding gene	gene with protein product	alternative, short form NMT-S, myristoyl-CoA:protein N-myristoyltransferase, long form, NMT-L	160993			NA	1570339	Standard	NM_021079	NM_021079	NA	Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.1311C>T	17.37:g.43181223C>T		NA	A8K7C1|Q9UE09	37	CCDS11494.1																																																																																			NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449239.1		+	ENST00000592782.1	Silent	SNP	17 : 43181223 - 43181223 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1549	291
TRAM1	23471	broad.mit.edu	37	8	71508556	71508556	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71508556C>T	ENST00000521425.1	-	5	1205	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	TRAM1_ENST00000521049.1_Intron|TRAM1_ENST00000536748.1_Splice_Site_p.E112K|TRAM1_ENST00000262213.2_Splice_Site_p.E143K			Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	143					cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			ATGTAGTTTTCCTAAGAAAGA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(85;984 1334 5116 12432 40638)							NA				0													109	108	108			NA	NA	8		NA											NA				71508556		2203	4300	6503	SO:0001630	splice_region_variant			X63679	CCDS6207.1	8q13.1	2004-01-22			ENSG00000067167	ENSG00000067167	23471	23471			20568	protein-coding gene	gene with protein product		605190			NA	1315422	Standard	NM_014294	NM_014294	NA	Approved	TRAM, TRAMP	uc003xyo.2	Q15629	OTTHUMG00000164428	ENST00000521425.1:c.169-1G>A	8.37:g.71508556C>T		NA		37		.	.	.	.	.	.	.	.	.	.	C	35	5.579000	0.96565	.	.	ENSG00000067167	ENST00000521425;ENST00000262213;ENST00000536748	D;D;D	0.85484	-1.99;-1.99;-1.99	6.08	6.08	0.98989	TRAM/LAG1/CLN8 homology domain (3);	0.097717	0.64402	D	0.000001	D	0.93766	0.8007	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.91854	0.5494	10	0.33940	T	0.23	-10.4254	20.6721	0.99693	0.0:1.0:0.0:0.0	.	143	Q15629	TRAM1_HUMAN	K	57;143;112	ENSP00000428052:E57K;ENSP00000262213:E143K;ENSP00000439359:E112K	ENSP00000262213:E143K	E	-	1	0	TRAM1	71671110	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.909000	0.75735	2.894000	0.99253	0.591000	0.81541	GAA	TRAM1-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000378737.1	Missense_Mutation	-	ENST00000521425.1	Splice_Site	SNP	8 : 71508556 - 71508556 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	439	85
COL5A2	1290	broad.mit.edu	37	2	189901341	189901341	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189901341C>T	ENST00000374866.3	-	52	4388		c.e52+1			NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	NA					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TATTAAATTACCTGAGACCCT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	54	55			NA	NA	2		NA											NA				189901341		2203	4298	6501	SO:0001630	splice_region_variant			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262	1290	1290		Collagens	2210	protein-coding gene	gene with protein product	AB collagen	120190			NA	1572660	Standard	NM_000393	NM_000393	NA	Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.4113+1G>A	2.37:g.189901341C>T		NA	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	37	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.832870	0.91036	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL5A2	189609586	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.818000	0.86416	2.838000	0.97847	0.591000	0.81541	.	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313523.1	Intron	-	ENST00000374866.3	Splice_Site	SNP	2 : 189901341 - 189901341 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	53
EPX	8288	broad.mit.edu	37	17	56276417	56276417	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56276417G>A	ENST00000225371.5	+	8	1247	c.1137G>A	c.(1135-1137)acG>acA	p.T379T		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	379					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CCCGATCAACGGAAACCCCCA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	66	69			NA	NA	17		NA											NA				56276417		2203	4300	6503	SO:0001819	synonymous_variant			M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	8288	8288	1.11.1.7		3423	protein-coding gene	gene with protein product		131399			NA	2550461, 2541222	Standard	NM_000502	NM_000502	NA	Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1137G>A	17.37:g.56276417G>A		NA	Q4TVP3	37	CCDS11602.1																																																																																			EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443367.1		+	ENST00000225371.5	Silent	SNP	17 : 56276417 - 56276417 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	229	44
CALHM1	255022	broad.mit.edu	37	10	105218421	105218421	+	Missense_Mutation	SNP	C	C	T	rs146465393	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105218421C>T	ENST00000329905.5	-	1	224	c.88G>A	c.(88-90)Gcc>Acc	p.A30T	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	30						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						TGGGCACTGGCCAGGGCCATG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	THR/ALA	0,4406		0,0,2203	46	49	48		88	5.6	1	10	dbSNP_134	48	9,8591	7.1+/-27.0	0,9,4291	yes	missense	CALHM1	NM_001001412.3	58	0,9,6494	TT,TC,CC	NA	0.1047,0.0,0.0692	probably-damaging	30/347	105218421	9,12997	2203	4300	6503	SO:0001583	missense			BC036208	CCDS7550.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000185933	ENSG00000185933	255022	255022			23494	protein-coding gene	gene with protein product		612234	family with sequence similarity 26, member C	FAM26C	NA	18585350	Standard	NM_001001412	NM_001001412	NA	Approved		uc001kxe.2	Q8IU99	OTTHUMG00000018991	ENST00000329905.5:c.88G>A	10.37:g.105218421C>T	ENSP00000329926:p.Ala30Thr	NA	Q5W091	37	CCDS7550.1	.	.	.	.	.	.	.	.	.	.	C	35	5.572932	0.96553	0.0	0.001047	ENSG00000185933	ENST00000329905	T	0.20332	2.08	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.49474	0.1559	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.49103	-0.8974	10	0.66056	D	0.02	-31.676	18.5069	0.90901	0.0:1.0:0.0:0.0	.	30	Q8IU99	CAHM1_HUMAN	T	30	ENSP00000329926:A30T	ENSP00000329926:A30T	A	-	1	0	CALHM1	105208411	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.332000	0.79203	2.619000	0.88677	0.491000	0.48974	GCC	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050165.1		-	ENST00000329905.5	Missense_Mutation	SNP	10 : 105218421 - 105218421 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	309	58
ATN1	1822	broad.mit.edu	37	12	7045981	7045981	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7045981C>T	ENST00000356654.4	+	5	1788	c.1551C>T	c.(1549-1551)caC>caT	p.H517H	ATN1_ENST00000396684.2_Silent_p.H517H	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	517	Involved in binding BAIAP2.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CATTTCCCCACCCACTGGAGG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	68	67			NA	NA	12		NA											NA				7045981		2203	4300	6503	SO:0001819	synonymous_variant			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676	1822	1822			3033	protein-coding gene	gene with protein product		607462	dentatorubral-pallidoluysian atrophy (atrophin-1)	D12S755E, DRPLA	NA	8136826	Standard	NM_001940	NM_001940	NA	Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1551C>T	12.37:g.7045981C>T		NA	Q99495|Q99621|Q9UEK7	37	CCDS31734.1																																																																																			ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401948.2		+	ENST00000356654.4	Silent	SNP	12 : 7045981 - 7045981 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	842	131
CASR	846	broad.mit.edu	37	3	121980530	121980530	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121980530C>T	ENST00000498619.1	+	4	1086	c.648C>T	c.(646-648)gaC>gaT	p.D216D	CASR_ENST00000490131.1_Silent_p.D216D|CASR_ENST00000296154.5_Silent_p.D216D	NM_001178065.1	NP_001171536	P41180	CASR_HUMAN	calcium-sensing receptor	216					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.D216D(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CAGCTGATGACGACTATGGGC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	endometrium(1)											125	134	131			NA	NA	3		NA											NA				121980530		2203	4300	6503	SO:0001819	synonymous_variant			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828	846	846		GPCR / Class C : Calcium-sensing receptors	1514	protein-coding gene	gene with protein product	severe neonatal hyperparathyroidism	601199	hypocalciuric hypercalcemia 1	HHC, HHC1	NA	7677761	Standard	NM_000388	NM_000388	NA	Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000498619.1:c.648C>T	3.37:g.121980530C>T		NA	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	37	CCDS54632.1																																																																																			CASR-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355762.1		+	ENST00000498619.1	Silent	SNP	3 : 121980530 - 121980530 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	950	174
SLU7	10569	broad.mit.edu	37	5	159835352	159835352	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159835352C>T	ENST00000297151.4	-	8	1190	c.803G>A	c.(802-804)cGa>cAa	p.R268Q		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	268					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AATATCTTCTCGAATCCTGAG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	83	82			NA	NA	5		NA											NA				159835352		2203	4300	6503	SO:0001583	missense			AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609	10569	10569			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974			NA	10197984, 15728250	Standard	NM_006425	NM_006425	NA	Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.803G>A	5.37:g.159835352C>T	ENSP00000297151:p.Arg268Gln	NA	D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	37	CCDS4352.1	.	.	.	.	.	.	.	.	.	.	C	36	5.675574	0.96764	.	.	ENSG00000164609	ENST00000297151	T	0.72282	-0.64	6.16	6.16	0.99307	Pre-mRNA splicing Prp18-interacting factor (1);	0.000000	0.85682	D	0.000000	D	0.88142	0.6357	M	0.90814	3.15	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.88867	0.3330	10	0.87932	D	0	-22.3357	20.8598	0.99761	0.0:1.0:0.0:0.0	.	268	O95391	SLU7_HUMAN	Q	268	ENSP00000297151:R268Q	ENSP00000297151:R268Q	R	-	2	0	SLU7	159767930	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.412000	0.80091	2.937000	0.99478	0.650000	0.86243	CGA	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252673.1		-	ENST00000297151.4	Missense_Mutation	SNP	5 : 159835352 - 159835352 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	346	52
AKAP13	11214	broad.mit.edu	37	15	86122939	86122939	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86122939A>G	ENST00000394518.2	+	7	1735	c.1640A>G	c.(1639-1641)aAa>aGa	p.K547R	AKAP13_ENST00000361243.2_Missense_Mutation_p.K547R|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	547					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GATGGTAACAAACCTGCTGAG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(94;603 1453 3280 32295 32951)							NA				0													88	94	92			NA	NA	15		NA											NA				86122939		2202	4299	6501	SO:0001583	missense			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776	11214	11214		A-kinase anchor proteins, Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	371	protein-coding gene	gene with protein product		604686	lymphoid blast crisis oncogene	LBC	NA	9627117, 1860836	Standard	NM_007200	NM_007200	NA	Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.1640A>G	15.37:g.86122939A>G	ENSP00000378026:p.Lys547Arg	NA	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	37	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	A	18.18	3.567026	0.65651	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.10382	2.88;2.88	5.87	-8.0	0.01126	.	.	.	.	.	T	0.05364	0.0142	L	0.27053	0.805	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.10450	0.002;0.005	T	0.41945	-0.9480	9	0.21540	T	0.41	.	5.7191	0.17976	0.2046:0.5528:0.1386:0.1039	.	547;547	Q12802;Q12802-2	AKP13_HUMAN;.	R	547;547;546;546	ENSP00000354718:K547R;ENSP00000378026:K547R	ENSP00000354718:K547R	K	+	2	0	AKAP13	83923943	0.000000	0.05858	0.000000	0.03702	0.549000	0.35272	-2.079000	0.01369	-1.133000	0.02903	0.533000	0.62120	AAA	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417318.1		+	ENST00000394518.2	Missense_Mutation	SNP	15 : 86122939 - 86122939 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	689	123
PLEC	5339	broad.mit.edu	37	8	145008523	145008523	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145008523G>T	ENST00000322810.4	-	11	1712	c.1543C>A	c.(1543-1545)Ctg>Atg	p.L515M	PLEC_ENST00000436759.2_Missense_Mutation_p.L405M|PLEC_ENST00000357649.2_Missense_Mutation_p.L382M|PLEC_ENST00000354589.3_Missense_Mutation_p.L378M|PLEC_ENST00000345136.3_Missense_Mutation_p.L378M|PLEC_ENST00000354958.2_Missense_Mutation_p.L356M|PLEC_ENST00000398774.2_Missense_Mutation_p.L346M|PLEC_ENST00000527096.1_Missense_Mutation_p.L401M|PLEC_ENST00000356346.3_Missense_Mutation_p.L364M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	515	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCCCGCTCCAGGATGGCCACG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	42	40			NA	NA	8		NA											NA				145008523		2081	4195	6276	SO:0001583	missense			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209	5339	5339			9069	protein-coding gene	gene with protein product		601282	plectin 1, intermediate filament binding protein, 500kD, epidermolysis bullosa simplex 1 (Ogna), plectin 1, intermediate filament binding protein 500kDa	EBS1, PLEC1	NA	8633055, 8696340	Standard	NM_000445	XM_005250976	NA	Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.1543C>A	8.37:g.145008523G>T	ENSP00000323856:p.Leu515Met	NA	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	g	15.64	2.891959	0.52014	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025	D;D;D;D;D;D;D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22	5.4	5.4	0.78164	.	0.000000	0.46758	U	0.000264	D	0.96540	0.8871	M	0.75777	2.31	0.52099	D	0.999946	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.998;0.998;0.998;0.996;0.998;0.998;0.998;0.998	D	0.96942	0.9688	10	0.87932	D	0	.	17.9524	0.89057	0.0:0.0:1.0:0.0	.	405;364;356;515;346;378;382;378	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	M	378;382;378;346;515;356;364;405;401;422	ENSP00000344848:L378M;ENSP00000350277:L382M;ENSP00000346602:L378M;ENSP00000381756:L346M;ENSP00000323856:L515M;ENSP00000347044:L356M;ENSP00000348702:L364M;ENSP00000388180:L405M;ENSP00000434583:L401M;ENSP00000437303:L422M	ENSP00000323856:L515M	L	-	1	2	PLEC	145080511	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.660000	0.61511	2.542000	0.85734	0.645000	0.84053	CTG	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383281.1		-	ENST00000322810.4	Missense_Mutation	SNP	8 : 145008523 - 145008523 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	58
TECTA	7007	broad.mit.edu	37	11	120989208	120989208	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120989208A>G	ENST00000392793.1	+	7	1255	c.984A>G	c.(982-984)ccA>ccG	p.P328P	TECTA_ENST00000264037.2_Silent_p.P328P			O75443	TECTA_HUMAN	tectorin alpha	328	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTGGGGAGCCACACTACCACA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	127	133			NA	NA	11		NA											NA				120989208		2203	4299	6502	SO:0001819	synonymous_variant			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927	7007	7007			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21	NA	9503015, 9590290	Standard	NM_005422	NM_005422	NA	Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.984A>G	11.37:g.120989208A>G		NA		37	CCDS8434.1																																																																																			TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313850.1		+	ENST00000392793.1	Silent	SNP	11 : 120989208 - 120989208 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	564	84
OR8K5	219453	broad.mit.edu	37	11	55927351	55927351	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55927351T>G	ENST00000313447.1	-	1	442	c.443A>C	c.(442-444)cAa>cCa	p.Q148P		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GTAGAGATATTGAATGCCCAC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	91	90			NA	NA	11		NA											NA				55927351		2201	4296	6497	SO:0001583	missense			BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752	219453	219453		GPCR / Class A : Olfactory receptors	15315	protein-coding gene	gene with protein product					NA		Standard	NM_001004058	NM_001004058	NA	Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.443A>C	11.37:g.55927351T>G	ENSP00000323853:p.Gln148Pro	NA	Q6IFB5	37	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.573329	0.00131	.	.	ENSG00000181752	ENST00000313447	T	0.36520	1.25	4.18	2.27	0.28462	GPCR, rhodopsin-like superfamily (1);	0.110804	0.41001	N	0.000980	T	0.06188	0.0160	N	0.00095	-2.16	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39418	-0.9615	10	0.07175	T	0.84	.	8.1569	0.31173	0.0873:0.0:0.7549:0.1577	.	148	Q8NH50	OR8K5_HUMAN	P	148	ENSP00000323853:Q148P	ENSP00000323853:Q148P	Q	-	2	0	OR8K5	55683927	0.000000	0.05858	0.022000	0.16811	0.358000	0.29455	-0.388000	0.07352	0.503000	0.28060	-1.479000	0.00991	CAA	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391543.1		-	ENST00000313447.1	Missense_Mutation	SNP	11 : 55927351 - 55927351 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	437	66
NCOA3	8202	broad.mit.edu	37	20	46262300	46262300	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46262300A>T	ENST00000372004.3	+	9	1100	c.884A>T	c.(883-885)gAt>gTt	p.D295V	NCOA3_ENST00000371997.3_Missense_Mutation_p.D295V|NCOA3_ENST00000341724.6_Missense_Mutation_p.D295V|NCOA3_ENST00000371998.3_Missense_Mutation_p.D295V	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	295					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGCTTTGAAGATATAATCCGA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	99	97			NA	NA	20		NA											NA				46262300		2203	4300	6503	SO:0001583	missense			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151	8202	8202		Chromatin-modifying enzymes / K-acetyltransferases, Basic helix-loop-helix proteins	7670	protein-coding gene	gene with protein product	receptor-associated coactivator 3, thyroid hormone receptor activator molecule 1	601937			NA	9252329, 9346901	Standard	NM_006534	NM_181659	NA	Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000372004.3:c.884A>T	20.37:g.46262300A>T	ENSP00000361073:p.Asp295Val	NA	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	37	CCDS13406.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.522593	0.85600	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997;ENST00000542882	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.53158	0.1779	M	0.77486	2.375	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;1.0;0.997;0.997;0.998;0.997	D;D;D;D;D;D	0.97110	0.961;1.0;0.943;0.943;0.974;0.943	T	0.58891	-0.7556	10	0.87932	D	0	-28.1386	15.4236	0.75035	1.0:0.0:0.0:0.0	.	295;295;299;295;295;295	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	V	295;295;295;295;295;61	ENSP00000342123:D295V;ENSP00000361073:D295V;ENSP00000361066:D295V;ENSP00000361065:D295V	ENSP00000345671:D295V	D	+	2	0	NCOA3	45695707	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.046000	0.60703	0.533000	0.62120	GAT	NCOA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080403.3		+	ENST00000372004.3	Missense_Mutation	SNP	20 : 46262300 - 46262300 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	520	114
AMIGO2	347902	broad.mit.edu	37	12	47472178	47472178	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:47472178C>T	ENST00000266581.4	-	2	1074	c.608G>A	c.(607-609)cGa>cAa	p.R203Q	AMIGO2_ENST00000429635.1_Missense_Mutation_p.R203Q|AMIGO2_ENST00000321382.3_Missense_Mutation_p.R203Q|AMIGO2_ENST00000550413.1_Missense_Mutation_p.R203Q	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	203					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		p.R203Q(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					GGAAGGAATTCGGTTATAAGA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											68	62	64			NA	NA	12		NA											NA				47472178		2203	4300	6503	SO:0001583	missense				CCDS8751.1	12q13.11	2013-01-11				ENSG00000139211	347902	347902		Immunoglobulin superfamily / Immunoglobulin-like domain containing	24073	protein-coding gene	gene with protein product	amphoterin-induced gene and open reading frame 2	615690			NA	12629050, 12843293, 15107827	Standard	NM_181847	NM_181847	NA	Approved	ALI1, DEGA	uc001rpk.3	Q86SJ2		ENST00000266581.4:c.608G>A	12.37:g.47472178C>T	ENSP00000266581:p.Arg203Gln	NA	Q4VBP6|Q7Z4A0|Q96CN8	37	CCDS8751.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075664	0.36662	.	.	ENSG00000139211	ENST00000266581;ENST00000550413;ENST00000429635;ENST00000321382	T;T;T;T	0.02421	4.3;4.3;4.3;4.3	4.92	0.84	0.18912	.	0.416223	0.20229	N	0.096530	T	0.01523	0.0049	N	0.11106	0.095	0.19575	N	0.999964	B	0.12013	0.005	B	0.14578	0.011	T	0.47289	-0.9129	10	0.28530	T	0.3	-5.6583	4.5798	0.12253	0.1437:0.4512:0.0:0.405	.	203	Q86SJ2	AMGO2_HUMAN	Q	203	ENSP00000266581:R203Q;ENSP00000449034:R203Q;ENSP00000406020:R203Q;ENSP00000320848:R203Q	ENSP00000266581:R203Q	R	-	2	0	AMIGO2	45758445	0.012000	0.17670	0.182000	0.23118	0.880000	0.50808	0.213000	0.17521	0.033000	0.15463	-0.140000	0.14226	CGA	AMIGO2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405075.1		-	ENST00000266581.4	Missense_Mutation	SNP	12 : 47472178 - 47472178 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	388	65
ABL1	25	broad.mit.edu	37	9	133760790	133760790	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133760790C>T	ENST00000318560.5	+	11	3494	c.3113C>T	c.(3112-3114)gCg>gTg	p.A1038V		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	1038	F-actin-binding.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	AGCACCGAGGCGCTGTGCCTC	0.622		NA	T, Mis	BCR, ETV6, NUP214	CML, ALL, T-ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	0								C	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	51	55	53		3113,3170	5.3	1	9		53	0,8600		0,0,4300	no	missense,missense	ABL1	NM_005157.4,NM_007313.2	64,64	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	1038/1131,1057/1150	133760790	1,13005	2203	4300	6503	SO:0001583	missense			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007	25	25		SH2 domain containing	76	protein-coding gene	gene with protein product		189980	v-abl Abelson murine leukemia viral oncogene homolog 1, c-abl oncogene 1, receptor tyrosine kinase, c-abl oncogene 1, non-receptor tyrosine kinase	ABL	NA	1857987, 12626632	Standard	NM_007313	NM_007313	NA	Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.3113C>T	9.37:g.133760790C>T	ENSP00000323315:p.Ala1038Val	NA	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	37	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430541	0.62844	2.27E-4	0.0	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.29655	1.56;1.56	5.26	5.26	0.73747	F-actin binding (2);	0.242574	0.42294	D	0.000736	T	0.23532	0.0569	L	0.36672	1.1	0.40595	D	0.981528	P;P	0.49862	0.929;0.929	B;B	0.41271	0.352;0.352	T	0.03750	-1.1007	10	0.14252	T	0.57	.	13.5841	0.61919	0.0:0.8444:0.1556:0.0	.	1038;1075	P00519;Q59FK4	ABL1_HUMAN;.	V	853;1057;1038	ENSP00000361423:A1057V;ENSP00000323315:A1038V	ENSP00000323315:A1038V	A	+	2	0	ABL1	132750611	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	3.145000	0.50623	2.457000	0.83068	0.555000	0.69702	GCG	ABL1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054684.1		+	ENST00000318560.5	Missense_Mutation	SNP	9 : 133760790 - 133760790 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	490	87
KRT39	390792	broad.mit.edu	37	17	39122912	39122912	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39122912C>T	ENST00000355612.2	-	1	232	c.197G>A	c.(196-198)tGt>tAt	p.C66Y	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	66	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				GGGCTTGCGACAAAAGCGAGG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													194	195	195			NA	NA	17		NA											NA				39122912		2203	4296	6499	SO:0001583	missense			AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859	390792	390792		-, Intermediate filaments type I, keratins (acidic)	32971	protein-coding gene	gene with protein product					NA	16831889	Standard	NM_213656	NM_213656	NA	Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.197G>A	17.37:g.39122912C>T	ENSP00000347823:p.Cys66Tyr	NA	B2RXK6|Q6IFU6	37	CCDS11382.1	.	.	.	.	.	.	.	.	.	.	C	8.048	0.765290	0.15914	.	.	ENSG00000196859	ENST00000355612	D	0.83755	-1.76	5.75	-2.35	0.06684	.	0.469201	0.18379	N	0.143013	T	0.56761	0.2007	N	0.04880	-0.145	0.09310	N	1	B	0.11235	0.004	B	0.12837	0.008	T	0.44251	-0.9340	10	0.41790	T	0.15	.	1.8678	0.03202	0.1305:0.3436:0.1291:0.3967	.	66	Q6A163	K1C39_HUMAN	Y	66	ENSP00000347823:C66Y	ENSP00000347823:C66Y	C	-	2	0	KRT39	36376438	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.579000	0.23788	-0.196000	0.10366	-0.142000	0.14014	TGT	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257287.1		-	ENST00000355612.2	Missense_Mutation	SNP	17 : 39122912 - 39122912 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1130	81
PPP1R18	170954	broad.mit.edu	37	6	30647026	30647026	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30647026C>A	ENST00000274853.3	-	2	3628	c.1752G>T	c.(1750-1752)gaG>gaT	p.E584D	PPP1R18_ENST00000488324.1_5'UTR|PPP1R18_ENST00000399199.3_Missense_Mutation_p.E584D	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN	protein phosphatase 1, regulatory subunit 18	584						cytoplasm|cytoskeleton	actin binding				NA						CTTCCTCATCCTCTTCGTCGT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	46	45			NA	NA	6		NA											NA				30647026		1204	2508	3712	SO:0001583	missense			AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112	170954	170954		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	29413	protein-coding gene	gene with protein product	protein phosphatase 1 F-actin cytoskeleton targeting subunit	610990	KIAA1949	KIAA1949	NA	11853319	Standard	NM_133471	NM_001134870	NA	Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.1752G>T	6.37:g.30647026C>A	ENSP00000274853:p.Glu584Asp	NA	A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	37	CCDS43444.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111440	0.37242	.	.	ENSG00000146112	ENST00000274853;ENST00000399199	T;T	0.30448	1.53;1.53	5.08	2.32	0.28847	.	0.081829	0.46145	D	0.000306	T	0.07413	0.0187	L	0.27053	0.805	0.35065	D	0.761944	B	0.18610	0.029	B	0.17722	0.019	T	0.12451	-1.0547	10	0.39692	T	0.17	-10.213	5.4841	0.16739	0.0:0.6149:0.145:0.2401	.	584	Q6NYC8	PPR18_HUMAN	D	584	ENSP00000274853:E584D;ENSP00000382150:E584D	ENSP00000274853:E584D	E	-	3	2	KIAA1949	30755005	0.006000	0.16342	0.656000	0.29637	0.907000	0.53573	-1.980000	0.01492	0.193000	0.20303	0.650000	0.86243	GAG	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076498.2		-	ENST00000274853.3	Missense_Mutation	SNP	6 : 30647026 - 30647026 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	332	35
ZNF217	7764	broad.mit.edu	37	20	52198924	52198924	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:52198924T>G	ENST00000371471.2	-	2	867	c.442A>C	c.(442-444)Aga>Cga	p.R148R	ZNF217_ENST00000302342.3_Silent_p.R148R			O75362	ZN217_HUMAN	zinc finger protein 217	148					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TTGTGTGTTCTCATGTGGATC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	140	143			NA	NA	20		NA											NA				52198924		2203	4300	6503	SO:0001819	synonymous_variant			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940	7764	7764		Zinc fingers, C2H2-type	13009	protein-coding gene	gene with protein product		602967			NA	9671742	Standard	NM_006526	NM_006526	NA	Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.442A>C	20.37:g.52198924T>G		NA	E1P5Y6|Q14DB8	37	CCDS13443.1																																																																																			ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079757.2		-	ENST00000371471.2	Silent	SNP	20 : 52198924 - 52198924 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1129	211
SMARCA4	6597	broad.mit.edu	37	19	11170509	11170509	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11170509C>T	ENST00000429416.3	+	34	4997	c.4716C>T	c.(4714-4716)ggC>ggT	p.G1572G	SMARCA4_ENST00000344626.4_Silent_p.G1572G|SMARCA4_ENST00000444061.3_Silent_p.G1538G|SMARCA4_ENST00000358026.2_Silent_p.G1604G|SMARCA4_ENST00000413806.3_Silent_p.G1542G|SMARCA4_ENST00000541122.2_Silent_p.G1542G|SMARCA4_ENST00000590574.1_Silent_p.G1539G|SMARCA4_ENST00000450717.3_Silent_p.G1541G|SMARCA4_ENST00000589677.1_Silent_p.G1541G	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1572	Poly-Glu.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				acagtgaaggcgaggagagtg	0.607		NA	F, N, Mis		NSCLC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		19	19p13.2	6597	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4		E	1	Unknown(1)	lung(1)											51	45	47			NA	NA	19		NA											NA				11170509		2203	4300	6503	SO:0001819	synonymous_variant			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616	6597	6597			11100	protein-coding gene	gene with protein product	SNF2-like 4, global transcription activator homologous sequence, sucrose nonfermenting-like 4, mitotic growth and transcription activator, BRM/SWI2-related gene 1, homeotic gene regulator, nuclear protein GRB1, brahma protein-like 1, ATP-dependent helicase SMARCA4	603254		SNF2L4	NA	8208605	Standard	NM_003072	NM_003072	NA	Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.4716C>T	19.37:g.11170509C>T		NA	O95052|Q9HBD3	37	CCDS12253.1																																																																																			SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452638.2		+	ENST00000429416.3	Silent	SNP	19 : 11170509 - 11170509 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	195	44
PSMG4	389362	broad.mit.edu	37	6	3290032	3290032	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:3290032G>T	ENST00000451246.2	+	2	308				SLC22A23_ENST00000490273.1_Missense_Mutation_p.L146M|SLC22A23_ENST00000406686.3_Missense_Mutation_p.L427M|SLC22A23_ENST00000436008.2_Missense_Mutation_p.L427M|SLC22A23_ENST00000380302.4_Missense_Mutation_p.L146M			Q5JS54	PSMG4_HUMAN	proteasome (prosome, macropain) assembly chaperone 4	NA										endometrium(1)	1						TTCTTCCACAGGTTCCGTGTC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	126	140			NA	NA	6		NA											NA				3290032		2203	4300	6503	SO:0001627	intron_variant				CCDS47360.1, CCDS47361.1, CCDS47362.1	6p25.2	2010-06-23	2008-02-25	2008-02-25	ENSG00000180822	ENSG00000180822	389362	389362			21108	protein-coding gene	gene with protein product			chromosome 6 open reading frame 86	C6orf86	NA	17707236	Standard		NM_001128591	NA	Approved	PAC4	uc010jnl.1	Q5JS54	OTTHUMG00000014142	ENST00000451246.2:c.228+7468G>T	6.37:g.3290032G>T		NA	Q5JS53|Q5JS56	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.68|18.68	3.676299|3.676299	0.67928|0.67928	.|.	.|.	ENSG00000180822|ENSG00000137266	ENST00000454610|ENST00000436008;ENST00000406686;ENST00000380302;ENST00000490273;ENST00000485307;ENST00000467177	.|T;T;T;T;T;T	.|0.61510	.|0.1;0.1;0.1;0.1;0.1;0.1	4.33|4.33	4.33|4.33	0.51752|0.51752	.|Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.|0.080436	.|0.52532	.|D	.|0.000078	.|T	.|0.51244	.|0.1663	L|L	0.39898|0.39898	1.24|1.24	0.80722|0.80722	D|D	1|1	.|D;D	.|0.67145	.|0.996;0.996	.|D;D	.|0.66716	.|0.946;0.946	.|T	.|0.43540	.|-0.9385	.|10	.|0.18276	.|T	.|0.48	.|-14.0855	10.955|10.955	0.47351|0.47351	0.0867:0.0:0.9133:0.0|0.0867:0.0:0.9133:0.0	.|.	.|427;427	.|C9J4Z0;A1A5C7	.|.;S22AN_HUMAN	.|M	-1|427;427;146;146;255;253	.|ENSP00000410245:L427M;ENSP00000385028:L427M;ENSP00000369657:L146M;ENSP00000419463:L146M;ENSP00000418134:L255M;ENSP00000418985:L253M	.|ENSP00000369657:L146M	.|L	+|-	.|1	.|2	PSMG4|SLC22A23	3235031|3235031	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	6.097000|6.097000	0.71452|0.71452	2.398000|2.398000	0.81561|0.81561	0.561000|0.561000	0.74099|0.74099	.|CTG	PSMG4-008	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000367067.1		+	ENST00000451246.2	Intron	SNP	6 : 3290032 - 3290032 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	202	39
SSTR5	6755	broad.mit.edu	37	16	1129206	1129206	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1129206G>A	ENST00000293897.4	+	1	426	c.338G>A	c.(337-339)cGc>cAc	p.R113H	SSTR5_ENST00000397547.2_Missense_Mutation_p.R113H|SSTR5_ENST00000562758.1_Missense_Mutation_p.R113H	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	113					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	p.R113H(1)		endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	GTCCTGTGCCGCCTGGTCATG	0.652		NA											G	1	5e-04	0.002	NA	2184	NA	0.9986	,	,	NA	6e-04	NA	NA	NA	0.0012	0.547	EXOME	NA	NA	0.0016	SNP								NA				1	Substitution - Missense(1)	endometrium(1)											56	50	52			NA	NA	16		NA											NA				1129206		2194	4297	6491	SO:0001583	missense			D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009	NA	6755		GPCR / Class A : Somatostatin receptors	11334	protein-coding gene	gene with protein product		182455			NA	7607700	Standard		NM_001053	NA	Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.338G>A	16.37:g.1129206G>A	ENSP00000293897:p.Arg113His	NA	P34988|Q9UJI5	37	CCDS10429.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	26.1	4.705785	0.89018	.	.	ENSG00000162009	ENST00000397547;ENST00000293897;ENST00000539762	T;T	0.19532	2.14;2.14	4.87	4.87	0.63330	GPCR, rhodopsin-like superfamily (1);	0.069740	0.56097	D	0.000032	T	0.37972	0.1023	L	0.54863	1.705	0.48696	D	0.999693	D	0.60160	0.987	P	0.57846	0.828	T	0.17107	-1.0380	10	0.62326	D	0.03	.	16.9817	0.86329	0.0:0.0:1.0:0.0	.	113	P35346	SSR5_HUMAN	H	113	ENSP00000380680:R113H;ENSP00000293897:R113H	ENSP00000293897:R113H	R	+	2	0	SSTR5	1069207	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	5.360000	0.66086	2.260000	0.74910	0.561000	0.74099	CGC	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000420836.1		+	ENST00000293897.4	Missense_Mutation	SNP	16 : 1129206 - 1129206 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	363	33
PPP2R5B	5526	broad.mit.edu	37	11	64695588	64695588	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64695588C>A	ENST00000164133.2	+	5	1171	c.549C>A	c.(547-549)ccC>ccA	p.P183P		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	183					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						ACTTCCAGCCCTCCGTGGCCA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	134	138			NA	NA	11		NA											NA				64695588		2201	4297	6498	SO:0001819	synonymous_variant			L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971	5526	5526		Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits	9310	protein-coding gene	gene with protein product	PP2A, B subunit, B' beta isoform, PP2A, B subunit, B56 beta isoform, PP2A, B subunit, PR61 beta isoform, PP2A, B subunit, R5 beta isoform, serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform	601644	protein phosphatase 2, regulatory subunit B (B56), beta isoform, protein phosphatase 2, regulatory subunit B', beta isoform		NA	7592815	Standard	NM_006244	NM_006244	NA	Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.549C>A	11.37:g.64695588C>A		NA	Q13853	37	CCDS8085.1																																																																																			PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385465.1		+	ENST00000164133.2	Silent	SNP	11 : 64695588 - 64695588 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	613	106
MUC5B	727897	broad.mit.edu	37	11	1263600	1263600	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1263600C>A	ENST00000529681.1	+	31	5548	c.5490C>A	c.(5488-5490)tgC>tgA	p.C1830*	MUC5B_ENST00000447027.1_Nonsense_Mutation_p.C1833*|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1830	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCATAGAGTGCCGGGCGGAGA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	65	61			NA	NA	11		NA											NA				1263600		2071	4203	6274	SO:0001587	stop_gained			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983	727897	727897		Mucins	7516	protein-coding gene	gene with protein product		600770	mucin 5, subtype B, tracheobronchial	MUC5	NA	9804771	Standard	XM_001126093	NM_002458	NA	Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.5490C>A	11.37:g.1263600C>A	ENSP00000436812:p.Cys1830*	NA	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	42	9.487211	0.99184	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	.	.	.	4.64	-0.141	0.13452	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.4732	0.44648	0.0:0.6651:0.0:0.3349	.	.	.	.	X	1830;1833;1831;1900	.	ENSP00000343037:C1831X	C	+	3	2	MUC5B	1220176	0.000000	0.05858	0.670000	0.29842	0.106000	0.19336	-0.806000	0.04525	0.072000	0.16694	-0.674000	0.03794	TGC	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390041.2		+	ENST00000529681.1	Nonsense_Mutation	SNP	11 : 1263600 - 1263600 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	332	64
ZNF335	63925	broad.mit.edu	37	20	44599953	44599953	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44599953C>A	ENST00000322927.2	-	2	197	c.97G>T	c.(97-99)Gaa>Taa	p.E33*	ZNF335_ENST00000426788.1_Intron	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	33					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GACACGGCTTCTGAGGTGCCC	0.731		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													6	8	7			NA	NA	20		NA											NA				44599953		2100	4143	6243	SO:0001587	stop_gained			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026	63925	63925		Zinc fingers, C2H2-type	15807	protein-coding gene	gene with protein product	NRC-interacting factor 1	610827			NA	12215545, 19131338	Standard	NM_022095	NM_022095	NA	Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.97G>T	20.37:g.44599953C>A	ENSP00000325326:p.Glu33*	NA	B4DLG7|Q548D0|Q9H684	37	CCDS13389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.966576|6.966576	0.97967|0.97967	.|.	.|.	ENSG00000198026|ENSG00000198026	ENST00000243961|ENST00000322927	.|.	.|.	.|.	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.52906	.|T	.|0.07	.|-15.8841	15.5037|15.5037	0.75722|0.75722	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|X	-1|33	.|.	.|ENSP00000325326:E33X	.|E	-|-	.|1	.|0	ZNF335|ZNF335	44033360|44033360	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	6.545000|6.545000	0.73883|0.73883	2.677000|2.677000	0.91161|0.91161	0.563000|0.563000	0.77884|0.77884	.|GAA	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079553.1		-	ENST00000322927.2	Nonsense_Mutation	SNP	20 : 44599953 - 44599953 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	113	24
CACNA1C	775	broad.mit.edu	37	12	2797893	2797893	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2797893C>A	ENST00000399655.1	+	46	6330	c.6065C>A	c.(6064-6066)gCt>gAt	p.A2022D	CACNA1C_ENST00000399597.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A2063D|CACNA1C_ENST00000347598.4_Missense_Mutation_p.A2070D|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A2030D|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A2028D|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A2093D|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A2057D|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A2041D|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A2047D|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A2041D|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A2050D|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A2039D|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A2030D|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A2093D|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A2041D|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A2057D|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A2022D|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A2042D	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2105					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCCAGCCAGGCTGGGGCCCCA	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													9	12	11			NA	NA	12		NA											NA				2797893		1931	4095	6026	SO:0001583	missense			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067	775	775		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1	NA	1650913, 16382099	Standard	NM_000719	NM_001129832	NA	Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000399655.1:c.6065C>A	12.37:g.2797893C>A	ENSP00000382563:p.Ala2022Asp	NA	B2RUT3|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	37	CCDS44794.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.615424	0.28801	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38	5.21	5.21	0.72293	.	0.164115	0.39475	N	0.001360	T	0.44008	0.1273	N	0.25647	0.755	0.25660	N	0.986018	B;P;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;P;B;B;B;B;B;B	0.40834	0.286;0.73;0.145;0.286;0.374;0.374;0.178;0.21;0.026;0.003;0.321;0.145;0.302;0.404;0.09;0.078;0.302;0.127;0.515;0.127;0.178;0.127;0.321;0.145;0.145	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.39419	0.042;0.299;0.036;0.066;0.156;0.156;0.107;0.156;0.062;0.012;0.156;0.023;0.109;0.156;0.016;0.075;0.109;0.139;0.156;0.139;0.073;0.139;0.156;0.079;0.036	T	0.38908	-0.9639	10	0.35671	T	0.21	.	18.7594	0.91845	0.0:1.0:0.0:0.0	.	713;2063;2019;2105;2057;2041;2022;2039;2050;2022;2042;2022;2053;2070;2022;2057;2093;2030;2028;2030;2011;2041;2041;2022;2022	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	D	2047;2022;2022;2050;2022;2041;2041;2030;2022;2070;2042;2022;2063;2039;2057;2028;2041;2022;2093;2057;2093;2030;1923	ENSP00000336982:A2047D;ENSP00000382563:A2022D;ENSP00000382552:A2022D;ENSP00000382547:A2050D;ENSP00000382506:A2022D;ENSP00000382530:A2041D;ENSP00000382546:A2041D;ENSP00000382500:A2030D;ENSP00000382549:A2022D;ENSP00000266376:A2070D;ENSP00000382515:A2042D;ENSP00000382510:A2022D;ENSP00000341092:A2063D;ENSP00000382537:A2039D;ENSP00000329877:A2057D;ENSP00000382557:A2028D;ENSP00000385724:A2041D;ENSP00000382512:A2022D;ENSP00000382542:A2093D;ENSP00000382526:A2057D;ENSP00000385896:A2093D;ENSP00000382504:A2030D	ENSP00000323129:A1923D	A	+	2	0	CACNA1C	2668154	0.001000	0.12720	0.955000	0.39395	0.197000	0.23852	0.340000	0.19892	2.428000	0.82296	0.462000	0.41574	GCT	CACNA1C-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317019.2		+	ENST00000399655.1	Missense_Mutation	SNP	12 : 2797893 - 2797893 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	118	22
ARVCF	421	broad.mit.edu	37	22	19963242	19963242	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19963242G>T	ENST00000263207.3	-	11	2218	c.1927C>A	c.(1927-1929)Cta>Ata	p.L643I	ARVCF_ENST00000344269.3_Missense_Mutation_p.L580I|ARVCF_ENST00000401994.1_Missense_Mutation_p.L580I|ARVCF_ENST00000406259.1_Missense_Mutation_p.L637I|ARVCF_ENST00000406522.1_Missense_Mutation_p.L574I	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	643					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GGCAGGTCTAGCGTGTCAAAG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	115	131			NA	NA	22		NA											NA				19963242		2202	4300	6502	SO:0001583	missense				CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889	421	421		Armadillo repeat containing	728	protein-coding gene	gene with protein product		602269			NA	9126485, 15456900	Standard	NM_001670	NM_001670	NA	Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.1927C>A	22.37:g.19963242G>T	ENSP00000263207:p.Leu643Ile	NA	B7WNV2	37	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	G	8.564	0.878517	0.17395	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85	4.74	1.44	0.22558	Armadillo-type fold (1);	0.152006	0.43747	D	0.000521	T	0.52008	0.1708	N	0.24115	0.695	0.48087	D	0.999584	B;P	0.38551	0.119;0.636	B;B	0.31245	0.109;0.126	T	0.38436	-0.9661	9	.	.	.	-11.7534	8.7502	0.34611	0.2567:0.0:0.7433:0.0	.	643;159	O00192;E7EV58	ARVC_HUMAN;.	I	643;580;580;574;637	ENSP00000263207:L643I;ENSP00000342042:L580I;ENSP00000384341:L580I;ENSP00000384732:L574I;ENSP00000385444:L637I	.	L	-	1	2	ARVCF	18343242	0.925000	0.31364	0.988000	0.46212	0.963000	0.63663	1.335000	0.33839	0.305000	0.22832	0.563000	0.77884	CTA	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075314.5		-	ENST00000263207.3	Missense_Mutation	SNP	22 : 19963242 - 19963242 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	56
SLIT1	6585	broad.mit.edu	37	10	98823297	98823297	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98823297G>A	ENST00000266058.4	-	8	953	c.708C>T	c.(706-708)atC>atT	p.I236I	SLIT1_ENST00000371070.4_Silent_p.I236I|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Silent_p.I236I	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	236	LRRCT 1.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TGAAGAGCCCGATGGTTGGCC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	24	24			NA	NA	10		NA											NA				98823297		2203	4300	6503	SO:0001819	synonymous_variant			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122	6585	6585			11085	protein-coding gene	gene with protein product		603742	slit (Drosophila) homolog 1	SLIL1	NA	9693030, 9813312	Standard	NM_003061	NM_003061	NA	Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.708C>T	10.37:g.98823297G>A		NA	Q8WWZ2|Q9UIL7	37	CCDS7453.1																																																																																			SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049636.1		-	ENST00000266058.4	Silent	SNP	10 : 98823297 - 98823297 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	160	32
RPS6KC1	26750	broad.mit.edu	37	1	213415505	213415505	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:213415505G>T	ENST00000366960.3	+	11	2836	c.2686G>T	c.(2686-2688)Gcc>Tcc	p.A896S	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.A599S|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.A884S|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.A684S	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	896	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		ATTAGCACTAGCCTCCAGGTT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	85	83			NA	NA	1		NA											NA				213415505		2203	4300	6503	SO:0001583	missense			AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643	26750	26750			10439	protein-coding gene	gene with protein product			ribosomal protein S6 kinase, 52kD, polypeptide 1		NA	10552933	Standard	NM_012424	XM_005273095	NA	Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.2686G>T	1.37:g.213415505G>T	ENSP00000355927:p.Ala896Ser	NA	B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	37	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	A	0.428	-0.904641	0.02453	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.91	4.77	0.60923	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.528388	0.23014	N	0.052921	T	0.40322	0.1112	N	0.19112	0.55	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.002	T	0.27640	-1.0068	10	0.10902	T	0.67	-21.3125	6.305	0.21133	0.7318:0.1345:0.1337:0.0	.	684;896;884	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	S	684;896;884;599	ENSP00000442306:A684S;ENSP00000355927:A896S;ENSP00000355926:A884S;ENSP00000439282:A599S	ENSP00000355926:A884S	A	+	1	0	RPS6KC1	211482128	0.061000	0.20836	0.057000	0.19452	0.939000	0.58152	2.481000	0.45215	0.471000	0.27319	-0.254000	0.11334	GCC	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089690.3		+	ENST00000366960.3	Missense_Mutation	SNP	1 : 213415505 - 213415505 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	557	155
ZIC4	84107	broad.mit.edu	37	3	147108773	147108773	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147108773A>G	ENST00000491672.1	-	3	773	c.331T>C	c.(331-333)Tcc>Ccc	p.S111P	ZIC4_ENST00000383075.3_Missense_Mutation_p.S317P|ZIC4_ENST00000425731.3_Missense_Mutation_p.S355P|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000473123.1_Missense_Mutation_p.S317P|ZIC4_ENST00000525172.2_Missense_Mutation_p.S367P|ZIC4_ENST00000484399.1_Missense_Mutation_p.S317P	NM_001243256.1	NP_001230185.1	Q8N9L1	ZIC4_HUMAN	Zic family member 4	317						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GCCACCTGGGACTTGTGGCCG	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	26	24			NA	NA	3		NA											NA				147108773		2092	4229	6321	SO:0001583	missense			AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963	84107	84107		Zinc fingers, C2H2-type	20393	protein-coding gene	gene with protein product		608948	zinc finger protein of the cerebellum 4		NA		Standard		NM_001168378	NA	Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000491672.1:c.331T>C	3.37:g.147108773A>G	ENSP00000418277:p.Ser111Pro	NA	A0AVA2|B2RMQ8|Q4G157|Q9BZ94	37	CCDS58857.1	.	.	.	.	.	.	.	.	.	.	A	3.851	-0.031833	0.07543	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000491672	T;T;T;T;T;T	0.11712	2.82;2.78;2.75;2.82;2.82;2.8	5.18	3.34	0.38264	.	0.305498	0.23266	N	0.050073	T	0.03608	0.0103	N	0.03029	-0.43	0.31564	N	0.657196	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34378	-0.9831	9	0.11182	T	0.66	.	6.6134	0.22763	0.1603:0.0:0.6942:0.1455	.	367;317	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	P	317;355;367;317;317;111	ENSP00000372553:S317P;ENSP00000397695:S355P;ENSP00000435509:S367P;ENSP00000417855:S317P;ENSP00000420775:S317P;ENSP00000418277:S111P	ENSP00000372553:S317P	S	-	1	0	ZIC4	148591463	1.000000	0.71417	0.566000	0.28421	0.106000	0.19336	4.339000	0.59322	0.531000	0.28639	-0.366000	0.07423	TCC	ZIC4-009	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355512.1		-	ENST00000491672.1	Missense_Mutation	SNP	3 : 147108773 - 147108773 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	288	33
PGR	5241	broad.mit.edu	37	11	100998653	100998653	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:100998653G>A	ENST00000325455.5	-	1	2602	c.1149C>T	c.(1147-1149)ccC>ccT	p.P383P	PGR_ENST00000263463.5_Silent_p.P383P|PGR_ENST00000534013.1_Intron	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	383	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TCTTTAGAGCGGGCGGCTGGA	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(124;2271 2354 21954 22882)							NA				0													14	18	16			NA	NA	11		NA											NA				100998653		2044	4071	6115	SO:0001819	synonymous_variant			M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175	5241	5241		Nuclear hormone receptors	8910	protein-coding gene	gene with protein product		607311			NA		Standard		NM_000926	NA	Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.1149C>T	11.37:g.100998653G>A		NA	A7X8B0|Q9UPF7	37	CCDS8310.1																																																																																			PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394934.1		-	ENST00000325455.5	Silent	SNP	11 : 100998653 - 100998653 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	258	40
OR52I2	143502	broad.mit.edu	37	11	4608230	4608230	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4608230C>A	ENST00000312614.4	+	1	210	c.188C>A	c.(187-189)gCc>gAc	p.A63D		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCACTGAGTGCCATGTACATC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													247	241	243			NA	NA	11		NA											NA				4608230		2201	4298	6499	SO:0001583	missense			BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288	143502	143502		GPCR / Class A : Olfactory receptors	15221	protein-coding gene	gene with protein product					NA		Standard	NM_001005170	NM_001005170	NA	Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.188C>A	11.37:g.4608230C>A	ENSP00000308764:p.Ala63Asp	NA	B2RNJ5|B9EKV8|Q6IFJ8	37	CCDS31355.1	.	.	.	.	.	.	.	.	.	.	C	4.604	0.112313	0.08831	.	.	ENSG00000226288	ENST00000312614	T	0.01106	5.33	4.1	-1.4	0.08968	.	1.354880	0.05027	N	0.473901	T	0.01940	0.0061	M	0.62723	1.935	0.09310	N	1	B	0.24823	0.112	B	0.23574	0.047	T	0.47459	-0.9116	10	0.35671	T	0.21	-0.0649	8.724	0.34458	0.0:0.4359:0.0:0.5641	.	63	Q8NH67	O52I2_HUMAN	D	63	ENSP00000308764:A63D	ENSP00000308764:A63D	A	+	2	0	OR52I2	4564806	0.000000	0.05858	0.032000	0.17829	0.220000	0.24768	-1.719000	0.01873	-0.171000	0.10797	0.552000	0.68991	GCC	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385946.1		+	ENST00000312614.4	Missense_Mutation	SNP	11 : 4608230 - 4608230 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1407	197
DYRK1B	9149	broad.mit.edu	37	19	40316827	40316827	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40316827C>A	ENST00000593685.1	-	10	1979	c.1511G>T	c.(1510-1512)aGc>aTc	p.S504I	DYRK1B_ENST00000348817.3_Missense_Mutation_p.S476I|DYRK1B_ENST00000323039.5_Missense_Mutation_p.S504I|DYRK1B_ENST00000430012.2_Missense_Mutation_p.S464I|DYRK1B_ENST00000597639.1_Missense_Mutation_p.S476I			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	504	Interaction with RANBP9.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			TACCTGGGGGCTGTTCATCTC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	50	49			NA	NA	19		NA											NA				40316827		2203	4300	6503	SO:0001583	missense			Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	9149	9149	2.7.12.1		3092	protein-coding gene	gene with protein product	minibrain-related kinase	604556			NA	9918863	Standard	NM_004714	XM_005259395	NA	Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.1511G>T	19.37:g.40316827C>A	ENSP00000469863:p.Ser504Ile	NA	O75258|O75788|O75789	37	CCDS12543.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141557	0.57044	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.59502	0.26;0.3;0.26	4.18	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.64886	0.2639	L	0.29908	0.895	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.69250	-0.5194	10	0.72032	D	0.01	.	14.0031	0.64446	0.0:1.0:0.0:0.0	.	464;504;476	Q9Y463-2;Q9Y463;Q9Y463-3	.;DYR1B_HUMAN;.	I	504;476;464	ENSP00000312789:S504I;ENSP00000221803:S476I;ENSP00000403182:S464I	ENSP00000312789:S504I	S	-	2	0	DYRK1B	45008667	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	6.875000	0.75551	1.847000	0.53656	0.462000	0.41574	AGC	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462874.2		-	ENST00000593685.1	Missense_Mutation	SNP	19 : 40316827 - 40316827 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	72
PCDHB7	56129	broad.mit.edu	37	5	140554408	140554408	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140554408C>T	ENST00000231137.3	+	1	2166	c.1992C>T	c.(1990-1992)gaC>gaT	p.D664D		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	664	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTGGTGGACGGCTTCTCCC	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	64	56			NA	NA	5		NA											NA				140554408		2178	4273	6451	SO:0001819	synonymous_variant			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212	56129	56129		Cadherins / Protocadherins : Clustered	8692	other	protocadherin		606333			NA	10380929	Standard	NM_018940	NM_018940	NA	Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1992C>T	5.37:g.140554408C>T		NA		37	CCDS4249.1																																																																																			PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251803.2		+	ENST00000231137.3	Silent	SNP	5 : 140554408 - 140554408 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1062	98
DOCK3	1795	broad.mit.edu	37	3	51264771	51264771	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51264771C>A	ENST00000266037.9	+	16	1458	c.1435C>A	c.(1435-1437)Ctc>Atc	p.L479I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	479	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.L468I(1)|p.L479I(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CTCCTTTGTCCTCTACCACAG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(2)											160	154	156			NA	NA	3		NA											NA				51264771		1853	4092	5945	SO:0001583	missense			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538	1795	1795			2989	protein-coding gene	gene with protein product		603123	dedicator of cyto-kinesis 3		NA	9205841	Standard	NM_004947	NM_004947	NA	Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1435C>A	3.37:g.51264771C>A	ENSP00000266037:p.Leu479Ile	NA	O15017	37	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	C	32	5.152422	0.94645	.	.	ENSG00000088538	ENST00000266037	T	0.14766	2.48	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.34395	0.0896	L	0.55103	1.725	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00501	-1.1702	10	0.19590	T	0.45	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	479	Q8IZD9	DOCK3_HUMAN	I	479	ENSP00000266037:L479I	ENSP00000266037:L479I	L	+	1	0	DOCK3	51239811	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.878000	0.98634	0.650000	0.86243	CTC	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346478.5		+	ENST00000266037.9	Missense_Mutation	SNP	3 : 51264771 - 51264771 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	854	159
CNKSR2	22866	broad.mit.edu	37	X	21519642	21519642	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:21519642C>A	ENST00000379510.3	+	8	782	c.746C>A	c.(745-747)cCt>cAt	p.P249H	CNKSR2_ENST00000425654.2_Missense_Mutation_p.P249H|CNKSR2_ENST00000543067.1_Missense_Mutation_p.P249H|CNKSR2_ENST00000279451.4_Missense_Mutation_p.P249H	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	249	PDZ.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ATTCAGTCACCTGCAGATCGG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	44	45			NA	NA	X		NA											NA				21519642		2202	4299	6501	SO:0001583	missense			AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970	22866	22866		Sterile alpha motif (SAM) domain containing, Pleckstrin homology (PH) domain containing	19701	protein-coding gene	gene with protein product		300724			NA		Standard	NM_014927	NM_014927	NA	Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.746C>A	X.37:g.21519642C>A	ENSP00000368824:p.Pro249His	NA	B9EG83|O94976|Q5JPK4|Q5JPN0|Q8WXI1	37	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893322	0.72524	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.98	5.09	0.68999	PDZ/DHR/GLGF (4);	0.057904	0.64402	D	0.000001	T	0.64800	0.2631	M	0.92604	3.325	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.99;0.987;0.992	T	0.74287	-0.3714	10	0.87932	D	0	-18.6417	15.6383	0.76973	0.1375:0.8625:0.0:0.0	.	249;249;249	B7ZLJ1;B4DGR4;Q8WXI2	.;.;CNKR2_HUMAN	H	249	ENSP00000397906:P249H;ENSP00000444633:P249H;ENSP00000279451:P249H;ENSP00000368824:P249H	ENSP00000279451:P249H	P	+	2	0	CNKSR2	21429563	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.174000	0.58256	2.524000	0.85096	0.544000	0.68410	CCT	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056019.1		+	ENST00000379510.3	Missense_Mutation	SNP	X : 21519642 - 21519642 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	140	27
LSP1	4046	broad.mit.edu	37	11	1904667	1904667	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1904667C>T	ENST00000381775.1	+	5	867	c.759C>T	c.(757-759)taC>taT	p.Y253Y	LSP1_ENST00000311604.3_Silent_p.Y125Y|LSP1_ENST00000405957.2_Silent_p.Y63Y|LSP1_ENST00000406638.2_Silent_p.Y63Y|LSP1_ENST00000485341.1_3'UTR	NM_001242932.1	NP_001229861.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	125					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity	p.Y63Y(1)|p.Y125Y(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		TGCATGCCTACGAAAAGGAGG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - coding silent(2)	prostate(2)											79	80	80			NA	NA	11		NA											NA				1904667		2202	4299	6501	SO:0001819	synonymous_variant			M33552	CCDS31334.1, CCDS31335.1, CCDS58110.1	11p15.5	2008-02-05			ENSG00000130592	ENSG00000130592	4046	4046			6707	protein-coding gene	gene with protein product		153432			NA	2174784	Standard	NM_002339	NM_001242932	NA	Approved	WP34	uc001luj.3	P33241	OTTHUMG00000012252	ENST00000381775.1:c.759C>T	11.37:g.1904667C>T		NA	Q16096|Q53H48|Q6FHM3|Q9BUY8	37	CCDS58110.1																																																																																			LSP1-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034042.3		+	ENST00000381775.1	Silent	SNP	11 : 1904667 - 1904667 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	449	75
PCDHB17	54661	broad.mit.edu	37	5	140537227	140537227	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140537227C>A	ENST00000539533.1	+	1	1651	c.1651C>A	c.(1651-1653)Ctg>Atg	p.L551M						protocadherin beta 17 pseudogene	NA											NA						GGTGCGCGTGCTGGTGTGCTG	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			AF152527		5q31	2010-01-26				ENSG00000255622	NA	54661		Cadherins / Protocadherins : Clustered	14547	pseudogene	pseudogene					NA	10380929	Standard		NR_001280	NA	Approved	PCDH-psi1	uc003lis.3			ENST00000539533.1:c.1651C>A	5.37:g.140537227C>A	ENSP00000438685:p.Leu551Met	NA		37		.	.	.	.	.	.	.	.	.	.	C	7.749	0.702850	0.15172	.	.	ENSG00000255622	ENST00000539533	T	0.52526	0.66	4.99	-0.612	0.11597	.	.	.	.	.	T	0.37892	0.1020	.	.	.	.	.	.	P	0.38300	0.626	B	0.37387	0.248	T	0.45190	-0.9278	7	0.56958	D	0.05	.	10.1522	0.42801	0.0777:0.2957:0.556:0.0707	.	551	Q96T98	.	M	551	ENSP00000438685:L551M	ENSP00000438685:L551M	L	+	1	2	AC005754.1	140517411	0.000000	0.05858	0.041000	0.18516	0.912000	0.54170	-3.057000	0.00625	-0.322000	0.08615	-0.321000	0.08615	CTG	PCDHB17-201	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding			+	ENST00000539533.1	Missense_Mutation	SNP	5 : 140537227 - 140537227 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	565	135
C20orf26	0	broad.mit.edu	37	20	20278871	20278871	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20278871G>A	ENST00000245957.5	+	25	3339	c.3263G>A	c.(3262-3264)cGa>cAa	p.R1088Q	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		1088								p.R1088Q(3)|p.R1088P(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ACTTACTTCCGAATTCATATT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				4	Substitution - Missense(4)	large_intestine(3)|lung(1)											78	75	76			NA	NA	20		NA											NA				20278871		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000245957.5:c.3263G>A	20.37:g.20278871G>A	ENSP00000245957:p.Arg1088Gln	NA	A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	37	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678484	0.88542	.	.	ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957	T	0.47528	0.84	5.27	5.27	0.74061	.	0.300219	0.31922	N	0.006857	T	0.61211	0.2329	M	0.72894	2.215	0.80722	D	1	D	0.69078	0.997	P	0.51701	0.677	T	0.65784	-0.6084	10	0.62326	D	0.03	.	19.2438	0.93893	0.0:0.0:1.0:0.0	.	1088	Q8NHU2	CT026_HUMAN	Q	1028;1054;1088	ENSP00000245957:R1088Q	ENSP00000245957:R1088Q	R	+	2	0	C20orf26	20226871	1.000000	0.71417	0.997000	0.53966	0.940000	0.58332	6.069000	0.71209	2.628000	0.89032	0.655000	0.94253	CGA	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078228.3		+	ENST00000245957.5	Missense_Mutation	SNP	20 : 20278871 - 20278871 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	345	68
FAM69A	388650	broad.mit.edu	37	1	93341969	93341969	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93341969G>A	ENST00000370310.4	-	2	143	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W		NM_001006605.4|NM_001252269.1|NM_001252271.1	NP_001006606.2|NP_001239198.1|NP_001239200.1	Q5T7M9	FA69A_HUMAN	family with sequence similarity 69, member A	25						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4		all_lung(203;0.00265)|Lung NSC(277;0.00562)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000563)|all cancers(265;0.000751)|Epithelial(280;0.127)		TATTTCATCCGCACATATGAG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	75	76			NA	NA	1		NA											NA				93341969		1877	4103	5980	SO:0001583	missense			AK027146	CCDS44173.1, CCDS72822.1, CCDS72823.1, CCDS72824.1, CCDS72825.1	1p22	2014-06-25			ENSG00000154511	ENSG00000154511	388650	388650			32213	protein-coding gene	gene with protein product		614542			NA	21334309	Standard	NM_001006605	NM_001006605	NA	Approved	FLJ23493	uc001dpg.3	Q5T7M9	OTTHUMG00000010894	ENST00000370310.4:c.73C>T	1.37:g.93341969G>A	ENSP00000359333:p.Arg25Trp	NA	Q6IRV2	37	CCDS44173.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604616	0.87157	.	.	ENSG00000154511	ENST00000370310;ENST00000401027	T	0.53423	0.62	5.59	4.66	0.58398	.	0.057952	0.64402	D	0.000002	T	0.54078	0.1836	L	0.52573	1.65	0.50467	D	0.999871	D;D;D	0.89917	0.999;0.999;1.0	P;P;D	0.74674	0.849;0.849;0.984	T	0.61058	-0.7139	10	0.72032	D	0.01	-11.1064	15.6626	0.77199	0.0:0.0:0.8617:0.1383	.	18;25;25	B4E174;Q5T7M9;Q5T7M9-2	.;FA69A_HUMAN;.	W	25	ENSP00000359333:R25W	ENSP00000359333:R25W	R	-	1	2	FAM69A	93114557	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.519000	0.81809	1.440000	0.47531	0.655000	0.94253	CGG	FAM69A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000030046.2		-	ENST00000370310.4	Missense_Mutation	SNP	1 : 93341969 - 93341969 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	205	21
SPOCD1	90853	broad.mit.edu	37	1	32279785	32279785	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32279785C>T	ENST00000360482.2	-	2	1279	c.1150G>A	c.(1150-1152)Gct>Act	p.A384T	SPOCD1_ENST00000533231.1_Missense_Mutation_p.A384T|SPOCD1_ENST00000373648.2_Missense_Mutation_p.A384T|SPOCD1_ENST00000257100.3_Intron	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	384					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CAGGTGTCAGCGGGGGCAGCG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	14	14			NA	NA	1		NA											NA				32279785		2199	4299	6498	SO:0001583	missense			AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668	90853	90853			26338	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 146				NA	12477932	Standard	NM_144569	NM_144569	NA	Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.1150G>A	1.37:g.32279785C>T	ENSP00000353670:p.Ala384Thr	NA	Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	37	CCDS347.1	.	.	.	.	.	.	.	.	.	.	C	8.225	0.803308	0.16397	.	.	ENSG00000134668	ENST00000360482;ENST00000373648;ENST00000533231	T;T;T	0.32753	1.93;1.44;1.92	3.31	-6.63	0.01807	.	.	.	.	.	T	0.10594	0.0259	N	0.08118	0	0.09310	N	1	B;B	0.16396	0.017;0.01	B;B	0.10450	0.005;0.002	T	0.09314	-1.0680	9	0.25751	T	0.34	10.199	1.901	0.03267	0.4835:0.1905:0.0967:0.2293	.	384;384	Q6ZMY3-2;Q6ZMY3	.;SPOC1_HUMAN	T	384	ENSP00000353670:A384T;ENSP00000362752:A384T;ENSP00000435851:A384T	ENSP00000353670:A384T	A	-	1	0	SPOCD1	32052372	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.614000	0.02057	-3.978000	0.00085	-1.209000	0.01634	GCT	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381912.1		-	ENST00000360482.2	Missense_Mutation	SNP	1 : 32279785 - 32279785 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	94	13
MYO3B	140469	broad.mit.edu	37	2	171070913	171070913	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171070913G>A	ENST00000408978.4	+	4	489	c.346G>A	c.(346-348)Gag>Aag	p.E116K	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.E116K|MYO3B_ENST00000334231.6_Missense_Mutation_p.E125K	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	116	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CTCAGTCACTGAGCTTGTCAA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	84	85			NA	NA	2		NA											NA				171070913		1967	4167	6134	SO:0001583	missense				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909	140469	140469		Myosins / Myosin superfamily : Class III	15576	protein-coding gene	gene with protein product		610040			NA		Standard		NM_001083615	NA	Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.346G>A	2.37:g.171070913G>A	ENSP00000386213:p.Glu116Lys	NA	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	37	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713704	0.89112	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.5	5.5	0.81552	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.155107	0.56097	D	0.000028	T	0.60196	0.2250	L	0.33093	0.98	0.58432	D	0.999998	P;P;P;P	0.39131	0.609;0.661;0.604;0.661	B;B;B;B	0.42593	0.287;0.217;0.108;0.392	T	0.64153	-0.6474	10	0.72032	D	0.01	.	19.4119	0.94677	0.0:0.0:1.0:0.0	.	116;116;116;116	Q8WXR4-5;B7ZM71;Q8WXR4-4;Q8WXR4	.;.;.;MYO3B_HUMAN	K	116;116;115;125;125	ENSP00000386497:E116K;ENSP00000386213:E116K;ENSP00000446237:E125K;ENSP00000335100:E125K	ENSP00000314213:E115K	E	+	1	0	MYO3B	170779159	1.000000	0.71417	0.931000	0.37212	0.980000	0.70556	9.378000	0.97191	2.596000	0.87737	0.650000	0.86243	GAG	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333410.1		+	ENST00000408978.4	Missense_Mutation	SNP	2 : 171070913 - 171070913 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	432	71
MYB	4602	broad.mit.edu	37	6	135518382	135518382	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135518382G>T	ENST00000341911.5	+	10	1686	c.1487G>T	c.(1486-1488)aGc>aTc	p.S496I	MYB_ENST00000525369.1_Intron|MYB_ENST00000316528.8_Intron|MYB_ENST00000442647.2_Intron|MYB_ENST00000528774.1_Missense_Mutation_p.S493I|MYB_ENST00000534044.1_Intron|MYB_ENST00000527615.1_Intron|MYB_ENST00000534121.1_Missense_Mutation_p.S480I|MYB_ENST00000533624.1_Intron|MYB_ENST00000531845.1_Intron|MYB_ENST00000367814.4_Intron	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	449					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		GGAGACTGTAGCTCCTTCATA	0.532		NA	T	NFIB	adenoid cystic carcinoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	0													74	70	71			NA	NA	6		NA											NA				135518382		1568	3582	5150	SO:0001583	missense				CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513	4602	4602			7545	protein-coding gene	gene with protein product		189990			NA	17599807	Standard		NM_001130172	NA	Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000341911.5:c.1487G>T	6.37:g.135518382G>T	ENSP00000339992:p.Ser496Ile	NA	P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	37	CCDS47481.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.839625	0.51057	.	.	ENSG00000118513	ENST00000341911;ENST00000528774;ENST00000534121	T;T;T	0.13538	2.58;2.58;2.58	5.78	3.98	0.46160	.	0.238779	0.48767	D	0.000176	T	0.06371	0.0164	L	0.38175	1.15	0.58432	D	0.999993	P;P;P	0.41569	0.612;0.472;0.755	B;B;B	0.41813	0.188;0.189;0.367	T	0.17440	-1.0369	10	0.48119	T	0.1	-0.9723	11.033	0.47785	0.2008:0.0:0.7992:0.0	.	493;480;496	E9PNL6;E9PNA4;P10242-4	.;.;.	I	496;493;480	ENSP00000339992:S496I;ENSP00000434723:S493I;ENSP00000432851:S480I	ENSP00000339992:S496I	S	+	2	0	MYB	135560075	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.749000	0.47492	1.457000	0.47850	0.655000	0.94253	AGC	MYB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042348.3		+	ENST00000341911.5	Missense_Mutation	SNP	6 : 135518382 - 135518382 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	316	46
ARSA	410	broad.mit.edu	37	22	51063696	51063696	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51063696G>A	ENST00000216124.5	-	8	1799	c.1407C>T	c.(1405-1407)gaC>gaT	p.D469D	ARSA_ENST00000547307.1_Silent_p.D467D|ARSA_ENST00000395619.3_Silent_p.D469D|ARSA_ENST00000547805.1_Silent_p.D467D|ARSA_ENST00000453344.2_Silent_p.D383D|ARSA_ENST00000356098.5_Silent_p.D469D|ARSA_ENST00000395621.3_Silent_p.D469D	NM_000487.5	NP_000478.3	P15289	ARSA_HUMAN	arylsulfatase A	467			A -> G (in MLD; early-infantile form).			lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	TCACAGCTGCGTCTAACTGGG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	33	33			NA	NA	22		NA											NA				51063696		2203	4300	6503	SO:0001819	synonymous_variant			X52150	CCDS14100.1, CCDS46736.1, CCDS14100.2	22q13.33	2013-09-19			ENSG00000100299	ENSG00000100299	410	410	3.1.6.8	Arylsulfatase family	713	protein-coding gene	gene with protein product	metachromatic leucodystrophy	607574			NA	15772092	Standard	NM_000487	NM_000487	NA	Approved		uc003bmz.5	P15289	OTTHUMG00000150180	ENST00000216124.5:c.1407C>T	22.37:g.51063696G>A		NA	B2RCA6|Q6ICI5|Q96CJ0	37	CCDS14100.2																																																																																			ARSA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316725.2		-	ENST00000216124.5	Silent	SNP	22 : 51063696 - 51063696 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	301	68
DCHS2	54798	broad.mit.edu	37	4	155298572	155298572	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155298572C>T	ENST00000357232.4	-	3	258	c.259G>A	c.(259-261)Gga>Aga	p.G87R	DCHS2_ENST00000339452.1_Missense_Mutation_p.G693R	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	NA	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCATAGAGTCCTGAATCTGCA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	60	59			NA	NA	4		NA											NA				155298572		2203	4300	6503	SO:0001583	missense			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410	54798	54798		Cadherins / Cadherin-related	23111	protein-coding gene	gene with protein product	cadherin-related family member 7	612486	cadherin-like 27, dachsous 2 (Drosophila)	CDH27, PCDH23	NA	15003449	Standard	NM_001142552	NM_017639	NA	Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.259G>A	4.37:g.155298572C>T	ENSP00000349768:p.Gly87Arg	NA	Q4W5P9|Q6ZS61|Q9NXU8	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649025	0.87958	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.66280	0.47;-0.2	5.64	5.64	0.86602	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000010	D	0.87010	0.6071	H	0.96889	3.9	0.80722	D	1	P;D	0.89917	0.889;1.0	P;D	0.85130	0.716;0.997	D	0.90962	0.4813	10	0.87932	D	0	.	19.3129	0.94198	0.0:1.0:0.0:0.0	.	693;87	E9PC11;Q6V1P9	.;PCD23_HUMAN	R	87;693;693	ENSP00000349768:G87R;ENSP00000345062:G693R	ENSP00000345062:G693R	G	-	1	0	DCHS2	155518022	0.981000	0.34729	0.921000	0.36526	0.897000	0.52465	5.216000	0.65246	2.664000	0.90586	0.561000	0.74099	GGA	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365281.2		-	ENST00000357232.4	Missense_Mutation	SNP	4 : 155298572 - 155298572 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	212	46
SLITRK5	26050	broad.mit.edu	37	13	88329162	88329162	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:88329162C>A	ENST00000325089.6	+	2	1738	c.1519C>A	c.(1519-1521)Ctc>Atc	p.L507I	SLITRK5_ENST00000400028.3_Missense_Mutation_p.L266I	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	507						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GGTCCCAAACCTCCAGCTGCT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	74	72			NA	NA	13		NA											NA				88329162		2203	4300	6503	SO:0001583	missense			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300	26050	26050			20295	protein-coding gene	gene with protein product		609680	leucine rich repeat containing 11	LRRC11	NA	10048485, 14557068	Standard		NM_015567	NA	Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1519C>A	13.37:g.88329162C>A	ENSP00000366283:p.Leu507Ile	NA	B3KNB8|Q5VT81	37	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627042	0.66901	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;D	0.81659	-1.33;-1.52	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000001	D	0.88716	0.6512	M	0.70595	2.14	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88461	0.3055	9	.	.	.	-15.8397	16.2866	0.82724	0.0:1.0:0.0:0.0	.	266;507	B4DSH5;O94991	.;SLIK5_HUMAN	I	507;266	ENSP00000366283:L507I;ENSP00000442244:L266I	.	L	+	1	0	SLITRK5	87127163	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.080000	0.71299	2.426000	0.82243	0.561000	0.74099	CTC	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045416.3		+	ENST00000325089.6	Missense_Mutation	SNP	13 : 88329162 - 88329162 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	494	93
LRG1	116844	broad.mit.edu	37	19	4538016	4538016	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4538016G>A	ENST00000306390.6	-	2	1440	c.980C>T	c.(979-981)aCg>aTg	p.T327M	CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	327	LRRCT.					extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCACAGCGCGTGTCATTCTG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	47	48			NA	NA	19		NA											NA				4538016		2203	4300	6503	SO:0001583	missense				CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236	116844	116844			29480	protein-coding gene	gene with protein product	leucine rich alpha 2 glycoprotein	611289			NA	3856868, 12223515	Standard	NM_052972	NM_052972	NA	Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.980C>T	19.37:g.4538016G>A	ENSP00000302621:p.Thr327Met	NA	Q8N4F5|Q96QZ4	37	CCDS12130.1	.	.	.	.	.	.	.	.	.	.	.	15.61	2.883464	0.51908	.	.	ENSG00000171236	ENST00000306390;ENST00000538589	T	0.02446	4.29	5.15	5.15	0.70609	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.41097	D	0.000958	T	0.12944	0.0314	M	0.72479	2.2	0.09310	N	1	D	0.89917	1.0	D	0.71184	0.972	T	0.01675	-1.1298	10	0.49607	T	0.09	-19.7871	13.9796	0.64297	0.0:0.0:1.0:0.0	.	327	P02750	A2GL_HUMAN	M	327;310	ENSP00000302621:T327M	ENSP00000302621:T327M	T	-	2	0	LRG1	4489016	0.378000	0.25114	0.093000	0.20910	0.042000	0.13812	3.111000	0.50360	2.685000	0.91497	0.591000	0.81541	ACG	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458654.2		-	ENST00000306390.6	Missense_Mutation	SNP	19 : 4538016 - 4538016 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	380	62
ARMC3	219681	broad.mit.edu	37	10	23287157	23287157	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23287157C>G	ENST00000298032.5	+	11	1340	c.1256C>G	c.(1255-1257)gCt>gGt	p.A419G	ARMC3_ENST00000409049.3_Missense_Mutation_p.A419G|ARMC3_ENST00000409983.3_Missense_Mutation_p.A419G|ARMC3_ENST00000376528.4_Missense_Mutation_p.A156G	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	419							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCCAACGCTGCTACAGTATTA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	59	64			NA	NA	10		NA											NA				23287157		2203	4300	6503	SO:0001583	missense			AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309	219681	219681		Armadillo repeat containing	30964	protein-coding gene	gene with protein product	cancer/testis antigen 81	611226			NA		Standard	NM_173081	XM_005252380	NA	Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1256C>G	10.37:g.23287157C>G	ENSP00000298032:p.Ala419Gly	NA	A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	37	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.680206	0.47886	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	5.27	5.27	0.74061	Armadillo-like helical (1);Armadillo-type fold (1);	0.277507	0.40728	N	0.001023	D	0.87799	0.6268	M	0.92459	3.31	0.46096	D	0.998869	D;D	0.89917	0.998;1.0	D;D	0.77004	0.969;0.989	D	0.89573	0.3815	10	0.87932	D	0	-29.2057	9.8185	0.40867	0.0:0.7844:0.1399:0.0757	.	419;419	Q5W041-4;Q5W041	.;ARMC3_HUMAN	G	419;419;355;419;156	ENSP00000298032:A419G;ENSP00000386943:A419G;ENSP00000387288:A419G;ENSP00000365711:A156G	ENSP00000298032:A419G	A	+	2	0	ARMC3	23327163	0.993000	0.37304	0.705000	0.30386	0.225000	0.24961	3.558000	0.53749	2.461000	0.83175	0.563000	0.77884	GCT	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047197.2		+	ENST00000298032.5	Missense_Mutation	SNP	10 : 23287157 - 23287157 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	112	23
DMGDH	29958	broad.mit.edu	37	5	78340214	78340214	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78340214C>T	ENST00000255189.3	-	6	935	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Missense_Mutation_p.E102K	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	303					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CCATCCCTTTCCTGTCGGAGA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	118	122			NA	NA	5		NA											NA				78340214		2203	4300	6503	SO:0001583	missense			AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	29958	29958	1.5.99.2		24475	protein-coding gene	gene with protein product		605849			NA	10767172, 11231903	Standard	NM_013391	NM_013391	NA	Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.907G>A	5.37:g.78340214C>T	ENSP00000255189:p.Glu303Lys	NA	B2RBN0	37	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	C	33	5.195254	0.94960	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000539598	T;T;T	0.33865	1.39;1.39;1.39	5.74	4.88	0.63580	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	T	0.67221	0.2870	M	0.91140	3.18	0.80722	D	1	D;D;D	0.76494	0.999;0.99;0.992	D;P;D	0.74023	0.982;0.897;0.937	T	0.76127	-0.3073	10	0.72032	D	0.01	.	14.797	0.69884	0.0:0.9308:0.0:0.0692	.	102;153;303	F8W6P8;F5H1C7;Q9UI17	.;.;M2GD_HUMAN	K	303;142;102;153	ENSP00000255189:E303K;ENSP00000430972:E142K;ENSP00000369667:E102K	ENSP00000255189:E303K	E	-	1	0	DMGDH	78375970	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.701000	0.84566	1.440000	0.47531	0.650000	0.86243	GAA	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226963.3		-	ENST00000255189.3	Missense_Mutation	SNP	5 : 78340214 - 78340214 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	550	108
WFS1	7466	broad.mit.edu	37	4	6303313	6303313	+	Silent	SNP	C	C	T	rs141883293		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6303313C>T	ENST00000226760.1	+	8	1961	c.1791C>T	c.(1789-1791)atC>atT	p.I597I	WFS1_ENST00000503569.1_Silent_p.I597I	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	597					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TCACCAAGATCGCAGTCACCG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	2,4404	4.2+/-10.8	0,2,2201	131	124	126		1791,1791	-0.3	0	4	dbSNP_134	126	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	WFS1	NM_001145853.1,NM_006005.3	,	0,2,6501	TT,TC,CC	NA	0.0,0.0454,0.0154	,	597/891,597/891	6303313	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501	7466	7466			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38	NA	7987399, 9771706	Standard		NM_006005	NA	Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1791C>T	4.37:g.6303313C>T		NA	B2R797|D3DVT1|Q8N6I3|Q9UNW6	37	CCDS3386.1																																																																																			WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206863.1		+	ENST00000226760.1	Silent	SNP	4 : 6303313 - 6303313 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	624	23
TENM1	10178	broad.mit.edu	37	X	123554207	123554207	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:123554207G>T	ENST00000371130.3	-	24	4978	c.4915C>A	c.(4915-4917)Ctt>Att	p.L1639I	TENM1_ENST00000422452.2_Missense_Mutation_p.L1646I|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2			teneurin transmembrane protein 1	NA											NA						GTAGCCAGAAGCCCTGTGTTT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	100	103			NA	NA	X		NA											NA				123554207		2203	4300	6503	SO:0001583	missense			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694	10178	10178			8117	protein-coding gene	gene with protein product		300588	tenascin M, odz, odd Oz/ten-m homolog 1 (Drosophila)	ODZ3, TNM, ODZ1	NA	10331952, 10341219	Standard	NM_014253	NM_001163278	NA	Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.4915C>A	X.37:g.123554207G>T	ENSP00000360171:p.Leu1639Ile	NA		37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	g	23.7	4.442335	0.83993	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.90676	-2.71;-2.67	5.49	5.49	0.81192	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.95162	0.8432	M	0.84948	2.725	0.58432	D	0.999994	D;D;D	0.76494	0.997;0.997;0.999	D;D;D	0.78314	0.978;0.991;0.979	D	0.95347	0.8443	10	0.62326	D	0.03	.	11.9263	0.52820	0.0814:0.0:0.9186:0.0	.	1645;1646;1639	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	I	1639;1646	ENSP00000360171:L1639I;ENSP00000403954:L1646I	ENSP00000360171:L1639I	L	-	1	0	ODZ1	123381888	1.000000	0.71417	0.968000	0.41197	0.988000	0.76386	8.042000	0.89430	2.299000	0.77371	0.553000	0.69018	CTT	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058985.1		-	ENST00000371130.3	Missense_Mutation	SNP	X : 123554207 - 123554207 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	513	113
ZNF772	400720	broad.mit.edu	37	19	57987053	57987053	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57987053C>A	ENST00000343280.4	-	3	434	c.174G>T	c.(172-174)gaG>gaT	p.E58D	ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000425074.3_Intron|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000427512.2_Intron|AC004076.9_ENST00000596831.1_Missense_Mutation_p.E58D|ZNF772_ENST00000356584.3_Missense_Mutation_p.E58D	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	58	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		GTGCAAAGTTCTCCAGCATCA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(5;289 436 14293 15924 30817)							NA				0													191	165	174			NA	NA	19		NA											NA				57987053		2203	4300	6503	SO:0001583	missense			BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128	400720	400720		Zinc fingers, C2H2-type, -	33106	protein-coding gene	gene with protein product					NA		Standard	NM_001024596	NM_001024596	NA	Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.174G>T	19.37:g.57987053C>A	ENSP00000341165:p.Glu58Asp	NA	B4DH56	37	CCDS33133.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.572108	0.45798	.	.	ENSG00000197128	ENST00000343280;ENST00000319969;ENST00000356584;ENST00000291809	T;T	0.03920	3.76;3.76	3.52	2.45	0.29901	Krueppel-associated box (4);	.	.	.	.	T	0.11665	0.0284	M	0.92219	3.285	0.80722	D	1	B;B	0.14438	0.002;0.01	B;B	0.14023	0.007;0.01	T	0.01621	-1.1310	9	0.66056	D	0.02	.	8.7124	0.34391	0.0:0.7412:0.2588:0.0	.	58;58	A6NJK9;Q68DY9	.;ZN772_HUMAN	D	58;45;58;45	ENSP00000341165:E58D;ENSP00000348992:E58D	ENSP00000291809:E45D	E	-	3	2	ZNF772	62678865	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.968000	0.29357	0.794000	0.33899	0.585000	0.79938	GAG	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397447.1		-	ENST00000343280.4	Missense_Mutation	SNP	19 : 57987053 - 57987053 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	744	108
CUX2	23316	broad.mit.edu	37	12	111758478	111758478	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111758478G>A	ENST00000261726.6	+	17	2819	c.2665G>A	c.(2665-2667)Gag>Aag	p.E889K		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	889						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CGAGCAGTACGAGCTGTACAT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	15	15			NA	NA	12		NA											NA				111758478		2196	4291	6487	SO:0001583	missense			AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249	23316	23316		Homeoboxes / CUT class	19347	protein-coding gene	gene with protein product		610648	cut-like 2 (Drosophila)	CUTL2	NA		Standard	NM_015267	NM_015267	NA	Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.2665G>A	12.37:g.111758478G>A	ENSP00000261726:p.Glu889Lys	NA	A7E2Y4	37	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406078	0.83230	.	.	ENSG00000111249	ENST00000261726	T	0.57907	0.37	4.45	4.45	0.53987	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (1);	0.112719	0.64402	D	0.000013	T	0.64360	0.2591	L	0.40543	1.245	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.69000	-0.5261	10	0.72032	D	0.01	-8.6409	17.126	0.86714	0.0:0.0:1.0:0.0	.	889	O14529	CUX2_HUMAN	K	889	ENSP00000261726:E889K	ENSP00000261726:E889K	E	+	1	0	CUX2	110242861	1.000000	0.71417	0.998000	0.56505	0.716000	0.41182	9.347000	0.97059	2.044000	0.60594	0.289000	0.19496	GAG	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404765.1		+	ENST00000261726.6	Missense_Mutation	SNP	12 : 111758478 - 111758478 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	156	44
FBXO18	84893	broad.mit.edu	37	10	5948357	5948357	+	Missense_Mutation	SNP	G	G	A	rs145958035		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5948357G>A	ENST00000379999.5	+	4	772	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	FBXO18_ENST00000362091.4_Missense_Mutation_p.R172Q|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_3'UTR	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	172					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						AGTACGTCTCGGCTCTCTGCG	0.572		NA											G	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	LOWCOV	NA	NA	3e-04	SNP								NA				0								G	GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	61	52	55		668,515	-5.5	0	10	dbSNP_134	55	0,8600		0,0,4300	no	missense,missense	FBXO18	NM_032807.3,NM_178150.1	43,43	0,2,6501	AA,AG,GG	NA	0.0,0.0454,0.0154	benign,benign	223/1095,172/1044	5948357	2,13004	2203	4300	6503	SO:0001583	missense			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452	84893	84893		F-boxes /  other	13620	protein-coding gene	gene with protein product		607222	F-box only protein 18		NA	10531037, 11956208	Standard	NM_032807	NM_032807	NA	Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000379999.5:c.668G>A	10.37:g.5948357G>A	ENSP00000369335:p.Arg223Gln	NA	Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	37	CCDS7073.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	0.039	-1.292831	0.01375	4.54E-4	0.0	ENSG00000134452	ENST00000362091;ENST00000379999	.	.	.	5.52	-5.47	0.02600	.	1.774100	0.02188	N	0.061094	T	0.12433	0.0302	N	0.01576	-0.805	0.09310	N	0.999993	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.32613	-0.9900	9	0.08179	T	0.78	1.2348	9.6318	0.39785	0.669:0.0:0.2333:0.0977	.	223;172;98	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	Q	172;223	.	ENSP00000355415:R172Q	R	+	2	0	FBXO18	5988363	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.453000	0.06778	-1.020000	0.03354	-0.136000	0.14681	CGG	FBXO18-010	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046597.1		+	ENST00000379999.5	Missense_Mutation	SNP	10 : 5948357 - 5948357 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	23
UACA	55075	broad.mit.edu	37	15	70969475	70969475	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:70969475A>C	ENST00000322954.6	-	12	1189	c.1004T>G	c.(1003-1005)gTt>gGt	p.V335G	UACA_ENST00000379983.2_Missense_Mutation_p.V322G|UACA_ENST00000560441.1_Missense_Mutation_p.V322G|UACA_ENST00000539319.1_Missense_Mutation_p.V226G	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	335						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						AGCAACCATAACTTCCTAAAT	0.274		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	62	60			NA	NA	15		NA											NA				70969475		2199	4295	6494	SO:0001583	missense			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831	55075	55075		Ankyrin repeat domain containing	15947	protein-coding gene	gene with protein product		612516			NA	11162650, 10997877	Standard		NM_001008224	NA	Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.1004T>G	15.37:g.70969475A>C	ENSP00000314556:p.Val335Gly	NA	Q14DD3|Q8N3B8|Q9HCL1|Q9NWC6	37	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	A	17.80	3.477796	0.63849	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.34667	1.35;1.37;1.8	5.4	4.21	0.49690	.	0.591373	0.15170	N	0.276723	T	0.44222	0.1283	L	0.51422	1.61	0.44677	D	0.997667	D;D;D	0.57899	0.967;0.968;0.981	P;P;P	0.57324	0.604;0.587;0.818	T	0.10917	-1.0609	10	0.23302	T	0.38	-18.2105	9.5199	0.39129	0.7722:0.0:0.0:0.2278	.	226;335;322	F5H2B9;Q9BZF9;G3XAG2	.;UACA_HUMAN;.	G	335;322;226	ENSP00000314556:V335G;ENSP00000369319:V322G;ENSP00000438667:V226G	ENSP00000314556:V335G	V	-	2	0	UACA	68756529	0.988000	0.35896	0.972000	0.41901	0.984000	0.73092	2.588000	0.46137	2.175000	0.68902	0.477000	0.44152	GTT	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257199.2		-	ENST00000322954.6	Missense_Mutation	SNP	15 : 70969475 - 70969475 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	60
A2M	2	broad.mit.edu	37	12	9252027	9252027	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9252027C>T	ENST00000318602.7	-	14	1958	c.1651G>A	c.(1651-1653)Gtg>Atg	p.V551M		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	551					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TCCCCAATCACGTCCCCGGTA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	68	69			NA	NA	12		NA											NA				9252027		1911	4138	6049	SO:0001583	missense			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899	2	2			7	protein-coding gene	gene with protein product		103950			NA		Standard	NM_000014	XM_006719056	NA	Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.1651G>A	12.37:g.9252027C>T	ENSP00000323929:p.Val551Met	NA	Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	37	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.633547	0.29068	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.66280	-0.2	5.27	2.42	0.29668	Alpha-2-macroglobulin, N-terminal 2 (1);	0.194485	0.35378	N	0.003256	T	0.56001	0.1956	L	0.55017	1.72	0.29656	N	0.843599	D	0.60160	0.987	P	0.49953	0.627	T	0.54430	-0.8295	10	0.36615	T	0.2	.	2.0669	0.03605	0.1381:0.4841:0.1345:0.2432	.	551	P01023	A2MG_HUMAN	M	551;566	ENSP00000323929:V551M	ENSP00000323929:V551M	V	-	1	0	A2M	9143294	0.012000	0.17670	0.938000	0.37757	0.322000	0.28314	-0.124000	0.10595	0.723000	0.32274	-0.136000	0.14681	GTG	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317233.2		-	ENST00000318602.7	Missense_Mutation	SNP	12 : 9252027 - 9252027 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	35	6
NCAPH	23397	broad.mit.edu	37	2	97026333	97026333	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97026333C>T	ENST00000455200.1	+	12	1734	c.1439C>T	c.(1438-1440)aCt>aTt	p.T480I	NCAPH_ENST00000240423.4_Missense_Mutation_p.T491I|NCAPH_ENST00000427946.1_Missense_Mutation_p.T355I			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	491					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				TAGGCTGCTACTATTCTGACC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	122	122			NA	NA	2		NA											NA				97026333		2203	4300	6503	SO:0001583	missense			BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152	23397	23397			1112	protein-coding gene	gene with protein product		602332	barren (Drosophila) homolog, barren homolog (Drosophila), barren homolog 1 (Drosophila)	BRRN1	NA	9417923	Standard	NM_015341	NM_015341	NA	Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000455200.1:c.1439C>T	2.37:g.97026333C>T	ENSP00000407308:p.Thr480Ile	NA	Q8TB87	37		.	.	.	.	.	.	.	.	.	.	C	17.62	3.434742	0.62955	.	.	ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000435975;ENST00000455200	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.3	4.42	0.53409	.	0.046684	0.85682	N	0.000000	T	0.59622	0.2207	M	0.72479	2.2	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.77004	0.987;0.989;0.973	T	0.57476	-0.7805	10	0.23891	T	0.37	-12.9561	12.2103	0.54375	0.0:0.9161:0.0:0.0839	.	467;480;491	B4DRG7;E9PHA2;Q15003	.;.;CND2_HUMAN	I	491;355;480;480	ENSP00000240423:T491I;ENSP00000400774:T355I;ENSP00000405237:T480I;ENSP00000407308:T480I	ENSP00000240423:T491I	T	+	2	0	NCAPH	96390060	1.000000	0.71417	0.926000	0.36857	0.896000	0.52359	3.934000	0.56553	1.373000	0.46208	-0.150000	0.13652	ACT	NCAPH-005	PUTATIVE	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000338875.1		+	ENST00000455200.1	Missense_Mutation	SNP	2 : 97026333 - 97026333 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	668	218
PRAMEF10	343071	broad.mit.edu	37	1	12954533	12954533	+	Silent	SNP	G	G	A	rs75427689	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12954533G>A	ENST00000235347.4	-	3	829	c.750C>T	c.(748-750)agC>agT	p.S250S		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	250										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCACTGGACGCTCACGTACA	0.463		NA												9	0.0041	0.02	NA	2184	NA	0.999	,	,	NA	5e-04	NA	NA	NA	0.0046	0.9202	LOWCOV,EXOME	NA	NA	0.0167	SNP								NA				0								G		36,3948		0,36,1956	260	186	210		750	0	0	1	dbSNP_131	210	0,8252		0,0,4126	no	coding-synonymous	PRAMEF10	NM_001039361.3		0,36,6082	AA,AG,GG	NA	0.0,0.9036,0.2942		250/475	12954533	36,12200	1992	4126	6118	SO:0001819	synonymous_variant			AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545	343071	343071		-	27997	protein-coding gene	gene with protein product					NA		Standard	XM_496342	NM_001039361	NA	Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.750C>T	1.37:g.12954533G>A		NA	Q2M1V2	37	CCDS41255.1																																																																																			PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005512.2		-	ENST00000235347.4	Silent	SNP	1 : 12954533 - 12954533 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1467	46
CACNA1C	775	broad.mit.edu	37	12	2788897	2788897	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2788897C>T	ENST00000399655.1	+	42	5644	c.5379C>T	c.(5377-5379)ggC>ggT	p.G1793G	CACNA1C_ENST00000399597.1_Silent_p.G1793G|CACNA1C_ENST00000344100.3_Silent_p.G1834G|CACNA1C_ENST00000347598.4_Silent_p.G1841G|CACNA1C_ENST00000399595.1_Silent_p.G1801G|CACNA1C_ENST00000399649.1_Silent_p.G1799G|CACNA1C_ENST00000399634.1_Silent_p.G1793G|CACNA1C_ENST00000327702.7_Silent_p.G1793G|CACNA1C_ENST00000399641.1_Silent_p.G1793G|CACNA1C_ENST00000402845.3_Silent_p.G1812G|CACNA1C_ENST00000335762.5_Silent_p.G1818G|CACNA1C_ENST00000399637.1_Silent_p.G1812G|CACNA1C_ENST00000399638.1_Silent_p.G1821G|CACNA1C_ENST00000399629.1_Silent_p.G1810G|CACNA1C_ENST00000399591.1_Silent_p.G1801G|CACNA1C_ENST00000399603.1_Silent_p.G1793G|CACNA1C_ENST00000406454.3_Silent_p.G1793G|CACNA1C_ENST00000399621.1_Silent_p.G1812G|CACNA1C_ENST00000399617.1_Silent_p.G1793G|CACNA1C_ENST00000399644.1_Silent_p.G1793G|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399601.1_Silent_p.G1793G|CACNA1C_ENST00000399606.1_Silent_p.G1813G	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1841					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CTGTGGAGGGCCACGGGCCCC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	39	37			NA	NA	12		NA											NA				2788897		2023	4179	6202	SO:0001819	synonymous_variant			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067	775	775		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1	NA	1650913, 16382099	Standard	NM_000719	NM_001129832	NA	Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000399655.1:c.5379C>T	12.37:g.2788897C>T		NA	B2RUT3|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	37	CCDS44794.1																																																																																			CACNA1C-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317019.2		+	ENST00000399655.1	Silent	SNP	12 : 2788897 - 2788897 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	74	11
KANSL1	284058	broad.mit.edu	37	17	44248620	44248620	+	Translation_Start_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44248620C>T	ENST00000575318.1	-	1	923	c.890G>A	c.(889-891)cGt>cAt	p.R297H	KANSL1_ENST00000572904.1_Missense_Mutation_p.R297H|KANSL1_ENST00000574590.1_Missense_Mutation_p.R297H|KANSL1_ENST00000432791.1_Missense_Mutation_p.R297H|KANSL1_ENST00000262419.6_Missense_Mutation_p.R297H|KANSL1_ENST00000393476.3_De_novo_Start_OutOfFrame			Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	297						MLL1 complex	protein binding				NA						TCTGCGGGCACGGCTCTCAAT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	73	69			NA	NA	17		NA											NA				44248620		2203	4300	6503	SO:0001583	missense			BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071	284058	284058			24565	protein-coding gene	gene with protein product	centromere protein 36	612452	KIAA1267	KIAA1267	NA	10574462	Standard	NM_015443	NM_015443	NA	Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000575318.1:c.890G>A	17.37:g.44248620C>T	ENSP00000461299:p.Arg297His	NA	A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	37		.	.	.	.	.	.	.	.	.	.	C	20.2	3.953108	0.73902	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	T;T	0.12774	2.65;2.65	6.04	5.06	0.68205	.	0.050793	0.85682	D	0.000000	T	0.28863	0.0716	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	0.994;1.0	P;D	0.87578	0.729;0.998	T	0.02758	-1.1114	10	0.87932	D	0	-6.9397	15.3996	0.74827	0.1404:0.8596:0.0:0.0	.	297;297	C9JHY2;Q7Z3B3	.;K1267_HUMAN	H	297	ENSP00000262419:R297H;ENSP00000387393:R297H	ENSP00000262419:R297H	R	-	2	0	KIAA1267	41604397	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.253000	0.78320	1.542000	0.49330	0.561000	0.74099	CGT	KANSL1-006	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000440272.1		-	ENST00000575318.1	Missense_Mutation	SNP	17 : 44248620 - 44248620 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	338	74
MUSK	4593	broad.mit.edu	37	9	113547872	113547872	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113547872A>G	ENST00000416899.2	+	11	1754	c.1628A>G	c.(1627-1629)aAc>aGc	p.N543S	MUSK_ENST00000374448.4_Missense_Mutation_p.N551S|MUSK_ENST00000374438.1_Missense_Mutation_p.N67S|MUSK_ENST00000189978.5_Missense_Mutation_p.N551S			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	551					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CTTCATCCCAACCCCATGTAC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													238	228	231			NA	NA	9		NA											NA				113547872		1979	4164	6143	SO:0001583	missense			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304	4593	4593		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	7525	protein-coding gene	gene with protein product		601296			NA	7546737	Standard		NM_005592	NA	Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000416899.2:c.1628A>G	9.37:g.113547872A>G	ENSP00000393608:p.Asn543Ser	NA	Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	37		.	.	.	.	.	.	.	.	.	.	A	25.6	4.659946	0.88154	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000374441;ENST00000416899;ENST00000374438	T;D	0.88431	-0.8;-2.38	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.93769	0.8008	M	0.71036	2.16	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.94182	0.7433	10	0.66056	D	0.02	.	15.429	0.75077	1.0:0.0:0.0:0.0	.	551	O15146	MUSK_HUMAN	S	557;551;551;465;465;67;549;67	ENSP00000363571:N551S;ENSP00000363561:N67S	ENSP00000189978:N557S	N	+	2	0	MUSK	112587693	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.890000	0.92477	2.241000	0.73720	0.533000	0.62120	AAC	MUSK-002	NOVEL	non_canonical_TEC|not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000053628.2		+	ENST00000416899.2	Missense_Mutation	SNP	9 : 113547872 - 113547872 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	850	137
CHAF1A	10036	broad.mit.edu	37	19	4432089	4432089	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4432089C>T	ENST00000301280.5	+	12	2189	c.2088C>T	c.(2086-2088)tgC>tgT	p.C696C	CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	696	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAGAGACTGCGCAGGCGATG	0.637		NA						Chromatin Structure						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	68	72			NA	NA	19		NA											NA				4432089		2203	4300	6503	SO:0001819	synonymous_variant			U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670	10036	10036			1910	protein-coding gene	gene with protein product	chromatin assembly factor I (150 kDa)	601246			NA	7600578	Standard	NM_005483	NM_005483	NA	Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.2088C>T	19.37:g.4432089C>T		NA	Q6NXG5|Q7Z7K3|Q9UJY8	37	CCDS32875.1																																																																																			CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458310.2		+	ENST00000301280.5	Silent	SNP	19 : 4432089 - 4432089 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	539	112
ZNF577	84765	broad.mit.edu	37	19	52375983	52375983	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52375983T>A	ENST00000420592.1	-	6	2416	c.1083A>T	c.(1081-1083)tcA>tcT	p.S361S	ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000301399.5_Silent_p.S420S|ZNF577_ENST00000451628.2_Silent_p.S361S			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GCGGGGTTCCTGAGGAAGGCA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	61	61			NA	NA	19		NA											NA				52375983		2203	4300	6503	SO:0001819	synonymous_variant			AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551	84765	84765		Zinc fingers, C2H2-type, -	28673	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_032679	NM_032679	NA	Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000420592.1:c.1083A>T	19.37:g.52375983T>A		NA	A8K0B4|A8K6Z7|C9JFB9	37	CCDS46160.1																																																																																			ZNF577-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347246.1		-	ENST00000420592.1	Silent	SNP	19 : 52375983 - 52375983 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	419	65
BLM	641	broad.mit.edu	37	15	91303942	91303942	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91303942G>A	ENST00000560509.1	+	7	1390	c.1339G>A	c.(1339-1341)Ggg>Agg	p.G447R	BLM_ENST00000355112.3_Missense_Mutation_p.G447R			P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	447					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CTGCCCTACAGGGAATTCTAT	0.438		NA	Mis, N, F			leukemia, lymphoma, skin squamous cell , other cancers		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		L, E	0													122	125	124			NA	NA	15		NA											NA				91303942		2198	4298	6496	SO:0001583	missense	Familial Cancer Database		U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299	641	641			1058	protein-coding gene	gene with protein product		604610	Bloom syndrome		NA	9388193	Standard		NM_000057	NA	Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000560509.1:c.1339G>A	15.37:g.91303942G>A	ENSP00000454158:p.Gly447Arg	NA	Q52M96	37		.	.	.	.	.	.	.	.	.	.	G	12.60	1.987362	0.35036	.	.	ENSG00000197299	ENST00000355112;ENST00000536925	T	0.47869	0.83	5.83	4.91	0.64330	.	2.117220	0.01426	N	0.014550	T	0.43255	0.1239	L	0.32530	0.975	0.09310	N	1	B;B;B	0.17038	0.002;0.02;0.002	B;B;B	0.12837	0.004;0.008;0.004	T	0.35126	-0.9801	10	0.17369	T	0.5	-10.5917	12.8054	0.57610	0.0:0.1764:0.8236:0.0	.	447;72;447	B2RAN0;B7ZKN7;P54132	.;.;BLM_HUMAN	R	447;100	ENSP00000347232:G447R	ENSP00000347232:G447R	G	+	1	0	BLM	89104946	0.001000	0.12720	0.002000	0.10522	0.004000	0.04260	0.501000	0.22578	1.458000	0.47871	0.591000	0.81541	GGG	BLM-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000417940.1		+	ENST00000560509.1	Missense_Mutation	SNP	15 : 91303942 - 91303942 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	777	131
KCNA1	3736	broad.mit.edu	37	12	5021067	5021067	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:5021067A>G	ENST00000382545.3	+	2	1630	c.523A>G	c.(523-525)Atg>Gtg	p.M175V	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	175					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CGTCTCCGTCATGGTCATCCT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	88	89			NA	NA	12		NA											NA				5021067		2203	4300	6503	SO:0001583	missense			L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262	3736	3736		Potassium channels, Voltage-gated ion channels / Potassium channels	6218	protein-coding gene	gene with protein product		176260		AEMK	NA	1349297, 8821794, 16382104	Standard	NM_000217	NM_000217	NA	Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.523A>G	12.37:g.5021067A>G	ENSP00000371985:p.Met175Val	NA	A6NM83|Q3MIQ9	37	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	A	9.495	1.101671	0.20632	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	T	0.67865	-0.29	4.71	3.54	0.40534	.	0.040366	0.85682	D	0.000000	T	0.54870	0.1885	L	0.37850	1.14	0.58432	D	0.999998	B	0.02656	0.0	B	0.06405	0.002	T	0.51980	-0.8636	10	0.49607	T	0.09	.	11.076	0.48032	0.8442:0.1558:0.0:0.0	.	175	Q09470	KCNA1_HUMAN	V	175	ENSP00000371985:M175V	ENSP00000228858:M175V	M	+	1	0	KCNA1	4891328	1.000000	0.71417	0.992000	0.48379	0.946000	0.59487	5.838000	0.69388	0.917000	0.36895	-0.313000	0.08912	ATG	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000103343.2		+	ENST00000382545.3	Missense_Mutation	SNP	12 : 5021067 - 5021067 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	624	74
SPAG1	6674	broad.mit.edu	37	8	101196260	101196260	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101196260T>C	ENST00000388798.2	+	6	756	c.565T>C	c.(565-567)Tct>Cct	p.S189P	SPAG1_ENST00000520508.1_Missense_Mutation_p.S189P|SPAG1_ENST00000520643.1_Missense_Mutation_p.S189P|SPAG1_ENST00000251809.3_Missense_Mutation_p.S189P	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	189					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		GTCACACTTGTCTAAAATTGA	0.264		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	51	51			NA	NA	8		NA											NA				101196260		2202	4291	6493	SO:0001583	missense			AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450	6674	6674		Tetratricopeptide (TTC) repeat domain containing	11212	protein-coding gene	gene with protein product		603395			NA	16368546	Standard	NM_172218	NM_172218	NA	Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.565T>C	8.37:g.101196260T>C	ENSP00000373450:p.Ser189Pro	NA	A6NP70|Q7Z5G1	37	CCDS34930.1	.	.	.	.	.	.	.	.	.	.	T	11.13	1.547190	0.27652	.	.	ENSG00000104450	ENST00000520643;ENST00000251809;ENST00000520508;ENST00000388798	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	5.66	4.53	0.55603	.	2.230900	0.01467	N	0.016126	T	0.19005	0.0456	L	0.53249	1.67	0.33878	D	0.635808	B;B	0.15930	0.007;0.015	B;B	0.16289	0.007;0.015	T	0.46978	-0.9152	10	0.26408	T	0.33	-21.5674	3.8289	0.08865	0.0:0.2901:0.0:0.7099	.	189;189	Q07617;G3XAM3	SPAG1_HUMAN;.	P	189	ENSP00000427716:S189P;ENSP00000251809:S189P;ENSP00000428070:S189P;ENSP00000373450:S189P	ENSP00000251809:S189P	S	+	1	0	SPAG1	101265436	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	2.713000	0.47194	2.153000	0.67306	0.459000	0.35465	TCT	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379853.2		+	ENST00000388798.2	Missense_Mutation	SNP	8 : 101196260 - 101196260 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	220	45
NR0B1	190	broad.mit.edu	37	X	30327309	30327309	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:30327309G>A	ENST00000378970.4	-	1	406	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W	NR0B1_ENST00000453287.1_Missense_Mutation_p.R58W	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	58	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GCCACGTTCCGCCCGCCCAGC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	16	17			NA	NA	X		NA											NA				30327309		2188	4279	6467	SO:0001583	missense			S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297	190	190		Nuclear hormone receptors	7960	protein-coding gene	gene with protein product		300473	dosage-sensitive sex reversal	AHC, DSS	NA	1301166, 10412368	Standard	NM_000475	NM_000475	NA	Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.172C>T	X.37:g.30327309G>A	ENSP00000368253:p.Arg58Trp	NA	Q96F69	37	CCDS14223.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413147	0.25465	.	.	ENSG00000169297	ENST00000378970;ENST00000453287	D;D	0.97994	-3.82;-4.65	4.42	2.59	0.31030	.	0.761802	0.11469	N	0.560960	D	0.96485	0.8853	L	0.55990	1.75	0.09310	N	1	D	0.63880	0.993	P	0.47470	0.548	D	0.90554	0.4511	10	0.87932	D	0	-12.9497	10.0129	0.41997	0.0:0.0:0.634:0.366	.	58	P51843	NR0B1_HUMAN	W	58	ENSP00000368253:R58W;ENSP00000396403:R58W	ENSP00000368253:R58W	R	-	1	2	NR0B1	30237230	0.001000	0.12720	0.005000	0.12908	0.036000	0.12997	0.626000	0.24492	0.401000	0.25424	-0.371000	0.07208	CGG	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056161.1		-	ENST00000378970.4	Missense_Mutation	SNP	X : 30327309 - 30327309 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	150	21
PRKAG3	53632	broad.mit.edu	37	2	219691782	219691782	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219691782C>T	ENST00000529249.1	-	10	1352	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	PRKAG3_ENST00000439262.2_Missense_Mutation_p.R321H|PRKAG3_ENST00000392098.3_Missense_Mutation_p.A331T|PRKAG3_ENST00000545803.1_Missense_Mutation_p.R162H			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	346					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGGATAGTGCGGTAGAGGAA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	110	109			NA	NA	2		NA											NA				219691782		2203	4300	6503	SO:0001583	missense			AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592	53632	53632			9387	protein-coding gene	gene with protein product		604976			NA	10818001	Standard		NM_017431	NA	Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.1037G>A	2.37:g.219691782C>T	ENSP00000436068:p.Arg346His	NA	Q4QQG8|Q4V779|Q9NRL1	37	CCDS2424.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.74|18.74	3.689197|3.689197	0.68271|0.68271	.|.	.|.	ENSG00000115592|ENSG00000115592	ENST00000392098|ENST00000439262;ENST00000545803;ENST00000529249	T|D;D;D	0.62232|0.91407	0.04|-2.84;-2.84;-2.84	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.102960	.|0.64402	.|D	.|0.000005	D|D	0.91153|0.91153	0.7214|0.7214	L|L	0.36672|0.36672	1.1|1.1	0.23798|0.23798	N|N	0.996819|0.996819	.|D	.|0.89917	.|1.0	.|D	.|0.67382	.|0.951	D|D	0.84430|0.84430	0.0576|0.0576	7|10	0.87932|0.66056	D|D	0|0.02	-12.6988|-12.6988	8.475|8.475	0.33007|0.33007	0.0:0.8359:0.0:0.1641|0.0:0.8359:0.0:0.1641	.|.	.|346	.|Q9UGI9	.|AAKG3_HUMAN	T|H	331|321;162;346	ENSP00000375947:A331T|ENSP00000397133:R321H;ENSP00000444536:R162H;ENSP00000436068:R346H	ENSP00000375947:A331T|ENSP00000233944:R346H	A|R	-|-	1|2	0|0	PRKAG3|PRKAG3	219400026|219400026	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.096000|2.096000	0.41738|0.41738	2.729000|2.729000	0.93468|0.93468	0.655000|0.655000	0.94253|0.94253	GCA|CGC	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385992.1		-	ENST00000529249.1	Missense_Mutation	SNP	2 : 219691782 - 219691782 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	955	27
LENG8	114823	broad.mit.edu	37	19	54965677	54965677	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54965677G>T	ENST00000326764.5	+	6	974	c.495G>T	c.(493-495)caG>caT	p.Q165H	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	128							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CGTCGGCTCAGCCCCCTCAGC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	30	29			NA	NA	19		NA											NA				54965677		2203	4300	6503	SO:0001583	missense			AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615	114823	114823			15500	protein-coding gene	gene with protein product					NA	10941842	Standard	NM_052925	XM_005278248	NA	Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.495G>T	19.37:g.54965677G>T	ENSP00000318374:p.Gln165His	NA	B0VJY9|Q8IZ27|Q8NCX6	37	CCDS12894.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118360	0.56505	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000439657;ENST00000376526;ENST00000431846	T;T;T;T	0.48201	1.39;0.82;1.42;1.35	5.23	3.05	0.35203	.	0.363370	0.28671	N	0.014526	T	0.43500	0.1250	L	0.51422	1.61	0.80722	D	1	P;P	0.48503	0.911;0.627	P;B	0.47981	0.563;0.098	T	0.24225	-1.0166	10	0.14656	T	0.56	-30.3481	9.66	0.39950	0.1731:0.0:0.8269:0.0	.	165;128	Q96PV6-2;F8W9Q9	.;.	H	165;128;165;128;165	ENSP00000318374:Q165H;ENSP00000399507:Q165H;ENSP00000365709:Q128H;ENSP00000388053:Q165H	ENSP00000301196:Q128H	Q	+	3	2	LENG8	59657489	0.995000	0.38212	1.000000	0.80357	0.692000	0.40212	0.414000	0.21164	1.314000	0.45095	0.655000	0.94253	CAG	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000140523.2		+	ENST00000326764.5	Missense_Mutation	SNP	19 : 54965677 - 54965677 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	271	52
NEIL2	252969	broad.mit.edu	37	8	11643740	11643740	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11643740G>A	ENST00000284503.6	+	5	1556	c.957G>A	c.(955-957)caG>caA	p.Q319Q	NEIL2_ENST00000436750.3_Silent_p.Q319Q|NEIL2_ENST00000455213.2_Silent_p.Q319Q|NEIL2_ENST00000403422.3_Silent_p.Q258Q|NEIL2_ENST00000528323.1_Silent_p.Q203Q	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	319					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		CGCAGTGCCAGCCCCAGTTGT	0.602		NA						Base excision repair (BER), DNA glycosylases						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	20	21			NA	NA	8		NA											NA				11643740		2195	4290	6485	SO:0001819	synonymous_variant			AK056206	CCDS5984.1, CCDS47802.1, CCDS47803.1	8p23.1	2010-04-27	2010-04-27		ENSG00000154328	ENSG00000154328	252969	252969			18956	protein-coding gene	gene with protein product		608933	nei like 2 (E. coli)		NA	12097317, 17686777	Standard	NM_145043	NM_145043	NA	Approved	NEH2, FLJ31644, MGC2832, MGC4505	uc003wue.2	Q969S2	OTTHUMG00000090753	ENST00000284503.6:c.957G>A	8.37:g.11643740G>A		NA	Q7Z3Q7|Q8N842|Q8NG52	37	CCDS5984.1																																																																																			NEIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207583.3		+	ENST00000284503.6	Silent	SNP	8 : 11643740 - 11643740 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	197	8
PLIN5	440503	broad.mit.edu	37	19	4523771	4523771	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4523771C>A	ENST00000381848.3	-	8	1241	c.1161G>T	c.(1159-1161)gaG>gaT	p.E387D		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	387						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CGGGCAGGGGCTCGGGTCGCT	0.741		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	24	22			NA	NA	19		NA											NA				4523771		2072	4154	6226	SO:0001583	missense			DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456	440503	440503		Perilipins	33196	protein-coding gene	gene with protein product	lipid storage droplet protein 5	613248			NA	17234449, 19638644	Standard	NM_001013706	NM_001013706	NA	Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.1161G>T	19.37:g.4523771C>A	ENSP00000371272:p.Glu387Asp	NA	A2RRC1|Q6ZS68	37	CCDS42473.1	.	.	.	.	.	.	.	.	.	.	C	4.341	0.062678	0.08388	.	.	ENSG00000214456	ENST00000381848	T	0.13089	2.62	4.62	-2.16	0.07080	.	2.270970	0.03127	U	0.164645	T	0.07279	0.0184	N	0.19112	0.55	0.09310	N	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.28902	-1.0029	10	0.18710	T	0.47	-8.503	1.0071	0.01489	0.1753:0.3071:0.3045:0.213	.	387	Q00G26	PLIN5_HUMAN	D	387	ENSP00000371272:E387D	ENSP00000371272:E387D	E	-	3	2	PLIN5	4474771	0.005000	0.15991	0.085000	0.20634	0.005000	0.04900	-0.067000	0.11579	0.030000	0.15379	-0.350000	0.07774	GAG	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458647.1		-	ENST00000381848.3	Missense_Mutation	SNP	19 : 4523771 - 4523771 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	452	90
GLIS3	169792	broad.mit.edu	37	9	3829351	3829351	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:3829351T>C	ENST00000324333.10	-	9	2343	c.2150A>G	c.(2149-2151)gAt>gGt	p.D717G	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.D872G	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	717					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GTGGAAAACATCAAAACTGGC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	93	98			NA	NA	9		NA											NA				3829351		2203	4300	6503	SO:0001583	missense			BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249	169792	169792		Zinc fingers, C2H2-type	28510	protein-coding gene	gene with protein product		610192	zinc finger protein 515	ZNF515	NA	14500813	Standard	NM_152629	NM_152629	NA	Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.2150A>G	9.37:g.3829351T>C	ENSP00000325494:p.Asp717Gly	NA	B1AL19|Q1PHK5	37	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	t	12.24	1.878591	0.33162	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.11821	2.77;2.74	5.93	5.93	0.95920	.	0.000000	0.51477	D	0.000082	T	0.08537	0.0212	N	0.19112	0.55	0.37435	D	0.914172	B;B;B	0.32693	0.38;0.38;0.051	B;B;B	0.30316	0.114;0.114;0.034	T	0.38693	-0.9649	10	0.15952	T	0.53	.	11.4116	0.49929	0.0:0.0717:0.0:0.9283	.	312;872;717	Q59FQ6;Q8NEA6-2;Q8NEA6	.;.;GLIS3_HUMAN	G	717;872	ENSP00000325494:D717G;ENSP00000371398:D872G	ENSP00000325494:D717G	D	-	2	0	GLIS3	3819351	1.000000	0.71417	0.994000	0.49952	0.790000	0.44656	4.122000	0.57910	2.270000	0.75569	0.460000	0.39030	GAT	GLIS3-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051559.1		-	ENST00000324333.10	Missense_Mutation	SNP	9 : 3829351 - 3829351 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	250	45
MTHFD1L	25902	broad.mit.edu	37	6	151281474	151281474	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151281474G>A	ENST00000367321.3	+	18	2141	c.1867G>A	c.(1867-1869)Gca>Aca	p.A623T		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	623	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		GGACAGCCTCGCAGACATGAA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	62	66			NA	NA	6		NA											NA				151281474		2203	4300	6503	SO:0001583	missense			BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	25902	25902	6.3.4.3		21055	protein-coding gene	gene with protein product	10-formyl-THF synthetase, mitochondrial C1-tetrahydrofolate synthase, monofunctional C1-tetrahydrofolate synthase, mitochondrial	611427	formyltetrahydrofolate synthetase domain containing 1	FTHFSDC1	NA	18804703	Standard	NM_015440	NM_015440	NA	Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.1867G>A	6.37:g.151281474G>A	ENSP00000356290:p.Ala623Thr	NA	Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	37	CCDS5228.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.642014	0.29157	.	.	ENSG00000120254	ENST00000367321	T	0.22945	1.93	5.81	-11.6	0.00059	.	2.222680	0.01321	N	0.010929	T	0.04952	0.0133	L	0.52266	1.64	0.09310	N	1	B;B;B	0.14438	0.01;0.002;0.005	B;B;B	0.13407	0.007;0.009;0.005	T	0.15694	-1.0428	10	0.23302	T	0.38	.	4.4068	0.11413	0.1404:0.1292:0.5514:0.179	.	624;378;623	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	T	623	ENSP00000356290:A623T	ENSP00000356290:A623T	A	+	1	0	MTHFD1L	151323167	0.000000	0.05858	0.000000	0.03702	0.852000	0.48524	-2.764000	0.00784	-3.388000	0.00173	0.460000	0.39030	GCA	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042699.1		+	ENST00000367321.3	Missense_Mutation	SNP	6 : 151281474 - 151281474 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	216	40
MBD3L1	85509	broad.mit.edu	37	19	8953519	8953519	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8953519G>T	ENST00000595891.1	+	3	396	c.165G>T	c.(163-165)tgG>tgT	p.W55C	MBD3L1_ENST00000305625.2_Missense_Mutation_p.W55C			Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like 1	55	Transcription repressor.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						ACCATCAATGGGAGGAGAGCT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	93	96			NA	NA	19		NA											NA				8953519		2203	4300	6503	SO:0001583	missense			AY038022	CCDS12209.1	19p13.2	2011-01-31	2003-03-19	2003-03-21	ENSG00000170948	ENSG00000170948	85509	85509			15774	protein-coding gene	gene with protein product		607963	methyl-CpG binding domain protein 3-like	MBD3L	NA	12504854	Standard	NM_145208	NM_145208	NA	Approved		uc002mko.2	Q8WWY6		ENST00000595891.1:c.165G>T	19.37:g.8953519G>T	ENSP00000471575:p.Trp55Cys	NA	B5BUM6|Q2M291	37	CCDS12209.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.387116	0.42308	.	.	ENSG00000170948	ENST00000305625	T	0.42900	0.96	3.92	3.92	0.45320	.	0.000000	0.30850	N	0.008744	T	0.56352	0.1979	M	0.65975	2.015	0.48341	D	0.999633	D	0.76494	0.999	P	0.61800	0.894	T	0.58399	-0.7643	10	0.54805	T	0.06	-13.1406	11.7393	0.51784	0.0:0.0:1.0:0.0	.	55	Q8WWY6	MB3L1_HUMAN	C	55	ENSP00000304198:W55C	ENSP00000304198:W55C	W	+	3	0	MBD3L1	8814519	1.000000	0.71417	0.958000	0.39756	0.543000	0.35085	3.640000	0.54350	2.459000	0.83118	0.655000	0.94253	TGG	MBD3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459973.1		+	ENST00000595891.1	Missense_Mutation	SNP	19 : 8953519 - 8953519 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	440	78
VSIG2	23584	broad.mit.edu	37	11	124618371	124618371	+	Missense_Mutation	SNP	G	G	T	rs140273632		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124618371G>T	ENST00000403470.1	-	6	821	c.766C>A	c.(766-768)Ctg>Atg	p.L256M	VSIG2_ENST00000326621.5_Missense_Mutation_p.L256M			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	256						integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		GCAACTGACAGCAACAGCACG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	88	91			NA	NA	11		NA											NA				124618371		2201	4299	6500	SO:0001583	missense			AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102	23584	23584		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing	17149	protein-coding gene	gene with protein product		606011			NA	9862345	Standard	NM_014312	NM_014312	NA	Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000403470.1:c.766C>A	11.37:g.124618371G>T	ENSP00000385013:p.Leu256Met	NA	O95791|Q9NX42	37		.	.	.	.	.	.	.	.	.	.	G	18.24	3.579365	0.65878	.	.	ENSG00000019102	ENST00000326621;ENST00000403470	T;T	0.77489	-1.1;-1.08	5.65	3.6	0.41247	.	0.270881	0.27366	N	0.019694	D	0.86049	0.5840	M	0.82823	2.61	0.32550	N	0.532482	D	0.76494	0.999	D	0.85130	0.997	D	0.87226	0.2257	10	0.72032	D	0.01	.	6.5355	0.22350	0.2235:0.0:0.7765:0.0	.	256	Q96IQ7	VSIG2_HUMAN	M	256	ENSP00000318684:L256M;ENSP00000385013:L256M	ENSP00000318684:L256M	L	-	1	2	VSIG2	124123581	0.997000	0.39634	0.953000	0.39169	0.928000	0.56348	1.559000	0.36320	1.560000	0.49568	0.655000	0.94253	CTG	VSIG2-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000317786.1		-	ENST00000403470.1	Missense_Mutation	SNP	11 : 124618371 - 124618371 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	422	75
MLXIP	22877	broad.mit.edu	37	12	122620104	122620104	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122620104G>A	ENST00000319080.7	+	11	2055	c.1923G>A	c.(1921-1923)ccG>ccA	p.P641P	MLXIP_ENST00000538698.1_Silent_p.P248P			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CGAGCAGCCCGCCTGCCCCCG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(105;787 1493 16200 18566 52466)							NA				0								G		2,3986		0,2,1992	15	20	18		1513	1.6	0.9	12		18	0,8332		0,0,4166	no	coding-synonymous	MLXIP	NM_014938.3		0,2,6158	AA,AG,GG	NA	0.0,0.0502,0.0162		641/920	122620104	2,12318	1994	4166	6160	SO:0001819	synonymous_variant			AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727	22877	22877		Basic helix-loop-helix proteins	17055	protein-coding gene	gene with protein product		608090			NA	10048485, 11073985	Standard	NM_014938	XM_006719290	NA	Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.1923G>A	12.37:g.122620104G>A		NA	A7MBN0|O94945|Q7LC47|Q8IXP1|Q8TAH9|Q8WVQ0|Q8WYA5	37																																																																																				MLXIP-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000401718.2		+	ENST00000319080.7	Silent	SNP	12 : 122620104 - 122620104 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	86	19
MYO1G	64005	broad.mit.edu	37	7	45010534	45010534	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45010534C>T	ENST00000258787.7	-	8	1107	c.971G>A	c.(970-972)cGc>cAc	p.R324H		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	324	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CAGCAGGGAGCGGAGCACGAG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	41	43			NA	NA	7		NA											NA				45010534		2202	4300	6502	SO:0001583	missense			AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286	64005	64005		Myosins / Myosin superfamily : Class I	13880	protein-coding gene	gene with protein product	minor histocompatibility antigen HA-2	600642			NA		Standard		NM_033054	NA	Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.971G>A	7.37:g.45010534C>T	ENSP00000258787:p.Arg324His	NA	Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	37	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282578	0.59867	.	.	ENSG00000136286	ENST00000258787	D	0.87412	-2.25	5.3	4.43	0.53597	Myosin head, motor domain (2);	0.000000	0.40385	N	0.001103	D	0.86443	0.5934	L	0.28014	0.82	0.37491	D	0.916393	D;D	0.69078	0.997;0.985	D;P	0.63192	0.912;0.806	D	0.87855	0.2660	10	0.66056	D	0.02	.	8.4286	0.32744	0.0:0.8224:0.0:0.1776	.	324;324	B0I1T2-4;B0I1T2	.;MYO1G_HUMAN	H	324	ENSP00000258787:R324H	ENSP00000258787:R324H	R	-	2	0	MYO1G	44977059	0.997000	0.39634	0.986000	0.45419	0.288000	0.27193	0.993000	0.29680	1.384000	0.46424	0.655000	0.94253	CGC	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341832.2		-	ENST00000258787.7	Missense_Mutation	SNP	7 : 45010534 - 45010534 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	206	32
CEP170B	283638	broad.mit.edu	37	14	105354058	105354058	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105354058C>T	ENST00000414716.3	+	12	3710	c.3482C>T	c.(3481-3483)gCc>gTc	p.A1161V	CEP170B_ENST00000453495.1_Missense_Mutation_p.A1162V|CEP170B_ENST00000418279.1_Missense_Mutation_p.A1091V|CEP170B_ENST00000556508.1_Missense_Mutation_p.A1091V	NM_001112726.2	NP_001106197.1			centrosomal protein 170B	NA											NA						GCTGAGCAGGCCAAGAAGCTG	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													6	10	9			NA	NA	14		NA											NA				105354058		1949	4094	6043	SO:0001583	missense			AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814	283638	283638			20362	protein-coding gene	gene with protein product	Cep170-related		KIAA0284	KIAA0284	NA	23087211	Standard	NM_001112726	NM_015005	NA	Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.3482C>T	14.37:g.105354058C>T	ENSP00000404151:p.Ala1161Val	NA		37	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	c	12.26	1.884865	0.33255	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.44881	0.91;0.92;0.91;0.92	4.03	1.96	0.26148	.	0.966170	0.08452	U	0.943742	T	0.52996	0.1769	L	0.54323	1.7	0.24738	N	0.993052	P;D;P	0.63880	0.514;0.993;0.639	B;P;B	0.57101	0.119;0.813;0.134	T	0.42849	-0.9427	10	0.62326	D	0.03	-24.1166	10.3639	0.44012	0.0:0.7644:0.1481:0.0875	.	1161;1161;1091	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	V	1091;1161;1162;1091	ENSP00000451249:A1091V;ENSP00000404151:A1161V;ENSP00000407238:A1162V;ENSP00000415006:A1091V	ENSP00000404151:A1161V	A	+	2	0	KIAA0284	104425103	0.847000	0.29606	1.000000	0.80357	0.107000	0.19398	2.343000	0.44001	0.687000	0.31509	-0.371000	0.07208	GCC	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410289.2		+	ENST00000414716.3	Missense_Mutation	SNP	14 : 105354058 - 105354058 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	68	14
DST	667	broad.mit.edu	37	6	56342199	56342199	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56342199C>T	ENST00000361203.3	-	86	20666	c.20659G>A	c.(20659-20661)Gac>Aac	p.D6887N	DST_ENST00000244364.6_Missense_Mutation_p.D4584N|DST_ENST00000370788.2_Missense_Mutation_p.D4801N|DST_ENST00000370754.5_Missense_Mutation_p.D7176N|DST_ENST00000370769.4_Missense_Mutation_p.D6998N|DST_ENST00000421834.2_Missense_Mutation_p.D4910N|DST_ENST00000446842.2_Missense_Mutation_p.D6672N|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	6996					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTGATGGAGTCGGGGTGGCAG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	178	176			NA	NA	6		NA											NA				56342199		1950	4159	6109	SO:0001583	missense			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914	667	667		EF-hand domain containing	1090	protein-coding gene	gene with protein product		113810	bullous pemphigoid antigen 1, 230/240kDa	BPAG1	NA	2461961, 2276744	Standard	NM_001723	NM_001144770	NA	Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.20659G>A	6.37:g.56342199C>T	ENSP00000354508:p.Asp6887Asn	NA	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	37		.	.	.	.	.	.	.	.	.	.	C	28.3	4.907843	0.92107	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.52983	0.64;1.08;1.08;0.64;1.08;1.08;1.08	5.58	5.58	0.84498	.	0.000000	0.53938	D	0.000059	T	0.69655	0.3135	M	0.84846	2.72	0.32497	N	0.5393319999999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.993	D;D;D;D;P	0.97110	0.999;1.0;0.999;0.999;0.892	T	0.71189	-0.4666	9	0.52906	T	0.07	.	19.9348	0.97133	0.0:1.0:0.0:0.0	.	4910;6998;7176;6996;4584	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	N	4584;7176;6998;4910;6672;4801;6887	ENSP00000244364:D4584N;ENSP00000359790:D7176N;ENSP00000359805:D6998N;ENSP00000400883:D4910N;ENSP00000393645:D6672N;ENSP00000359824:D4801N;ENSP00000354508:D6887N	ENSP00000244364:D4584N	D	-	1	0	DST	56450158	1.000000	0.71417	0.973000	0.42090	0.988000	0.76386	7.776000	0.85560	2.789000	0.95967	0.591000	0.81541	GAC	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000041021.3		-	ENST00000361203.3	Missense_Mutation	SNP	6 : 56342199 - 56342199 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	454	81
SLC26A4	5172	broad.mit.edu	37	7	107341615	107341615	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107341615A>C	ENST00000265715.3	+	16	2001	c.1777A>C	c.(1777-1779)Aaa>Caa	p.K593Q	SLC26A4_ENST00000544569.1_Missense_Mutation_p.K180Q|SLC26A4_ENST00000543100.1_Missense_Mutation_p.K162Q|SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000541474.1_Missense_Mutation_p.K154Q	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	593	STAS.				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GAAACTAATAAAAAGTGGACA	0.338		NA							Pendred syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	89	87			NA	NA	7		NA											NA				107341615		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137	5172	5172		Solute carriers	8818	protein-coding gene	gene with protein product	pendrin	605646	solute carrier family 26, member 4	DFNB4	NA	9500541, 11087667	Standard	NM_000441	NM_000441	NA	Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1777A>C	7.37:g.107341615A>C	ENSP00000265715:p.Lys593Gln	NA	O43170	37	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.884273	0.51908	.	.	ENSG00000091137	ENST00000265715;ENST00000541474;ENST00000544569;ENST00000543100	D;D;D;D	0.95656	-3.35;-3.71;-3.77;-3.76	5.72	4.55	0.56014	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.054607	0.64402	N	0.000001	D	0.94614	0.8264	M	0.69185	2.1	0.38988	D	0.959096	B;B;B	0.30793	0.251;0.295;0.046	B;B;B	0.37943	0.141;0.237;0.261	D	0.92680	0.6157	10	0.33141	T	0.24	.	13.0168	0.58762	0.8651:0.1348:0.0:0.0	.	154;180;593	F5H104;B7Z6M6;O43511	.;.;S26A4_HUMAN	Q	593;154;180;162	ENSP00000265715:K593Q;ENSP00000439743:K154Q;ENSP00000437427:K180Q;ENSP00000441209:K162Q	ENSP00000265715:K593Q	K	+	1	0	SLC26A4	107128851	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.690000	0.68241	0.987000	0.38709	0.533000	0.62120	AAA	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337148.1		+	ENST00000265715.3	Missense_Mutation	SNP	7 : 107341615 - 107341615 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	314	13
RBM11	54033	broad.mit.edu	37	21	15592002	15592002	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:15592002G>T	ENST00000400577.3	+	2	224	c.215G>T	c.(214-216)gGa>gTa	p.G72V	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	72	RRM.						nucleotide binding|RNA binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		TTGCTGAATGGAATTCGTTTA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	90	93			NA	NA	21		NA											NA				15592002		1568	3582	5150	SO:0001583	missense			AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272	54033	54033		RNA binding motif (RRM) containing	9897	protein-coding gene	gene with protein product					NA	12036298	Standard	NM_144770	NM_144770	NA	Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.215G>T	21.37:g.15592002G>T	ENSP00000383421:p.Gly72Val	NA	Q6YNC2|Q8NBA1|Q8NFF6	37	CCDS46635.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467415	0.84533	.	.	ENSG00000185272	ENST00000400577	D	0.82255	-1.59	5.29	5.29	0.74685	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000016	D	0.94716	0.8295	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96230	0.9167	10	0.72032	D	0.01	-19.4528	18.9174	0.92512	0.0:0.0:1.0:0.0	.	72	P57052	RBM11_HUMAN	V	72	ENSP00000383421:G72V	ENSP00000383421:G72V	G	+	2	0	RBM11	14513873	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.000000	0.70678	2.661000	0.90470	0.655000	0.94253	GGA	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157818.1		+	ENST00000400577.3	Missense_Mutation	SNP	21 : 15592002 - 15592002 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	178	23
CKAP5	9793	broad.mit.edu	37	11	46800054	46800054	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46800054G>A	ENST00000529230.1	-	21	2575	c.2529C>T	c.(2527-2529)gaC>gaT	p.D843D	CKAP5_ENST00000415402.1_Silent_p.D843D|CKAP5_ENST00000312055.5_Silent_p.D843D|CKAP5_ENST00000354558.3_Silent_p.D843D			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	843					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CATTGCTCCCGTCATCTGGTT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(4;85 273 2202 4844 13323)							NA				0													260	217	231			NA	NA	11		NA											NA				46800054		2201	4299	6500	SO:0001819	synonymous_variant				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216	9793	9793			28959	protein-coding gene	gene with protein product		611142			NA	7788527, 8536682	Standard	NM_014756	NM_014756	NA	Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.2529C>T	11.37:g.46800054G>A		NA	Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	37	CCDS31477.1																																																																																			CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390679.1		-	ENST00000529230.1	Silent	SNP	11 : 46800054 - 46800054 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	773	127
GAS2L3	283431	broad.mit.edu	37	12	101017514	101017514	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101017514A>C	ENST00000537247.1	+	10	1573	c.619A>C	c.(619-621)Aca>Cca	p.T207P	GAS2L3_ENST00000539410.1_Missense_Mutation_p.T311P|GAS2L3_ENST00000547754.1_Missense_Mutation_p.T311P|GAS2L3_ENST00000266754.5_Missense_Mutation_p.T311P			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	311					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						GCCTGCCAGAACACCTCAGCC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	53	53			NA	NA	12		NA											NA				101017514		2203	4300	6503	SO:0001583	missense			AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354	283431	283431			27475	protein-coding gene	gene with protein product					NA		Standard	NM_174942	NM_174942	NA	Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000537247.1:c.619A>C	12.37:g.101017514A>C	ENSP00000442406:p.Thr207Pro	NA	B2RCN2	37		.	.	.	.	.	.	.	.	.	.	A	12.87	2.066624	0.36470	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.26518	1.76;1.76;1.73;1.76	5.71	3.21	0.36854	.	0.419651	0.27189	N	0.020505	T	0.22244	0.0536	L	0.54323	1.7	0.34191	D	0.672037	B	0.17038	0.02	B	0.17722	0.019	T	0.18147	-1.0346	10	0.29301	T	0.29	-10.0264	8.3763	0.32445	0.7994:0.1318:0.0688:0.0	.	311	Q86XJ1	GA2L3_HUMAN	P	311;311;207;311	ENSP00000266754:T311P;ENSP00000448955:T311P;ENSP00000442406:T207P;ENSP00000439672:T311P	ENSP00000266754:T311P	T	+	1	0	GAS2L3	99541645	0.984000	0.35163	1.000000	0.80357	0.784000	0.44337	1.268000	0.33062	0.987000	0.38709	0.533000	0.62120	ACA	GAS2L3-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000409147.1		+	ENST00000537247.1	Missense_Mutation	SNP	12 : 101017514 - 101017514 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	451	37
NR5A1	2516	broad.mit.edu	37	9	127262888	127262888	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127262888G>A	ENST00000373588.4	-	4	547	c.351C>T	c.(349-351)ggC>ggT	p.G117G		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	117					cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						CCAGCTTGAAGCCATTGGCCC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	36	35			NA	NA	9		NA											NA				127262888		2145	4137	6282	SO:0001819	synonymous_variant			D88155	CCDS6856.1	9q33	2013-01-16			ENSG00000136931	ENSG00000136931	2516	2516		Nuclear hormone receptors	7983	protein-coding gene	gene with protein product		184757		FTZF1	NA	7789992	Standard	NM_004959	NM_004959	NA	Approved	FTZ1, SF-1, ELP, AD4BP	uc004boo.1	Q13285	OTTHUMG00000020655	ENST00000373588.4:c.351C>T	9.37:g.127262888G>A		NA	O15196|Q5T6F5	37	CCDS6856.1																																																																																			NR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054029.1		-	ENST00000373588.4	Silent	SNP	9 : 127262888 - 127262888 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	267	51
HDAC4	9759	broad.mit.edu	37	2	240048328	240048328	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240048328G>A	ENST00000345617.3	-	12	2133	c.1342C>T	c.(1342-1344)Cgg>Tgg	p.R448W	HDAC4_ENST00000541256.1_Missense_Mutation_p.R422W|HDAC4_ENST00000543185.1_Missense_Mutation_p.R32W	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	448					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GGGGACACCCGGTCTGCACCA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	41	39			NA	NA	2		NA											NA				240048328		2203	4300	6503	SO:0001583	missense			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024	9759	9759			14063	protein-coding gene	gene with protein product		605314	brachydactyly-mental retardation syndrome	BDMR	NA	10206986, 10220385, 20691407	Standard	NM_006037	NM_006037	NA	Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.1342C>T	2.37:g.240048328G>A	ENSP00000264606:p.Arg448Trp	NA	Q9UND6	37	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766312	0.69878	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185;ENST00000541256;ENST00000393621	T;T;T	0.69685	0.06;-0.42;1.22	4.46	3.55	0.40652	.	0.096845	0.43110	D	0.000618	T	0.80199	0.4579	M	0.78456	2.415	0.44880	D	0.99789	D;D;P;D;D;D	0.89917	0.999;1.0;0.803;1.0;0.999;0.998	D;D;B;D;P;P	0.79784	0.952;0.985;0.164;0.993;0.739;0.784	T	0.80888	-0.1181	9	.	.	.	.	12.9074	0.58160	0.0:0.0:0.6027:0.3973	.	448;331;422;422;416;448	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	W	448;336;32;422;331	ENSP00000264606:R448W;ENSP00000440481:R32W;ENSP00000443057:R422W	.	R	-	1	2	HDAC4	239713265	0.427000	0.25514	0.960000	0.40013	0.979000	0.70002	1.296000	0.33389	0.956000	0.37904	0.563000	0.77884	CGG	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257174.2		-	ENST00000345617.3	Missense_Mutation	SNP	2 : 240048328 - 240048328 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	94
DCHS2	54798	broad.mit.edu	37	4	155254359	155254359	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155254359C>T	ENST00000357232.4	-	9	1503	c.1504G>A	c.(1504-1506)Gca>Aca	p.A502T	DCHS2_ENST00000339452.1_Missense_Mutation_p.A1001T|DCHS2_ENST00000507542.1_5'UTR	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	NA	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCCGCACGTGCGAGGTACAAG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	64	66			NA	NA	4		NA											NA				155254359		2203	4300	6503	SO:0001583	missense			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410	54798	54798		Cadherins / Cadherin-related	23111	protein-coding gene	gene with protein product	cadherin-related family member 7	612486	cadherin-like 27, dachsous 2 (Drosophila)	CDH27, PCDH23	NA	15003449	Standard	NM_001142552	NM_017639	NA	Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1504G>A	4.37:g.155254359C>T	ENSP00000349768:p.Ala502Thr	NA	Q4W5P9|Q6ZS61|Q9NXU8	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048405	0.75846	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.51817	0.69;0.69	5.6	4.76	0.60689	Cadherin (4);Cadherin-like (1);	0.198922	0.33005	N	0.005383	T	0.67002	0.2847	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66666	-0.5866	10	0.33141	T	0.24	.	14.2287	0.65877	0.0:0.9285:0.0:0.0715	.	1001;502	E9PC11;Q6V1P9	.;PCD23_HUMAN	T	502;1001;1001	ENSP00000349768:A502T;ENSP00000345062:A1001T	ENSP00000345062:A1001T	A	-	1	0	DCHS2	155473809	1.000000	0.71417	0.020000	0.16555	0.653000	0.38743	6.018000	0.70811	1.366000	0.46076	0.563000	0.77884	GCA	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365281.2		-	ENST00000357232.4	Missense_Mutation	SNP	4 : 155254359 - 155254359 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	363	27
ANPEP	290	broad.mit.edu	37	15	90348375	90348375	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90348375C>T	ENST00000300060.6	-	4	1144	c.831G>A	c.(829-831)acG>acA	p.T277T		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	277	Interaction with HCoV-229E.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	p.T277T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CCAGCAAGTACGTGGACATCT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(30;827 977 2459 19669 26125)							NA				1	Substitution - coding silent(1)	lung(1)											335	277	297			NA	NA	15		NA											NA				90348375		2200	4299	6499	SO:0001819	synonymous_variant			M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	290	290	3.4.11.2	CD molecules	500	protein-coding gene	gene with protein product	aminopeptidase N, aminopeptidase M, microsomal aminopeptidase	151530		CD13, PEPN	NA	2428842, 1977688	Standard		NM_001150	NA	Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.831G>A	15.37:g.90348375C>T		NA	Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	37	CCDS10356.1																																																																																			ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313425.1		-	ENST00000300060.6	Silent	SNP	15 : 90348375 - 90348375 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	961	180
MKI67	4288	broad.mit.edu	37	10	129906523	129906523	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129906523G>A	ENST00000368654.3	-	13	3956	c.3581C>T	c.(3580-3582)cCa>cTa	p.P1194L	MKI67_ENST00000368653.3_Missense_Mutation_p.P834L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1194	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTCTGCACTGGAGTTCCCAT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													205	195	198			NA	NA	10		NA											NA				129906523		2203	4300	6503	SO:0001583	missense			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773	4288	4288			7107	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 105	176741	antigen identified by monoclonal antibody Ki-67		NA	2571566, 16206250	Standard	NM_002417	NM_002417	NA	Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3581C>T	10.37:g.129906523G>A	ENSP00000357643:p.Pro1194Leu	NA	Q5VWH2	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523639	0.64747	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02301	4.35;4.35	3.99	3.99	0.46301	.	1.135460	0.06812	N	0.790500	T	0.13628	0.0330	M	0.74647	2.275	0.46725	D	0.99917	D;D;D	0.76494	0.996;0.999;0.999	D;D;D	0.77557	0.947;0.963;0.99	T	0.00783	-1.1568	10	0.40728	T	0.16	.	14.6341	0.68676	0.0:0.0:1.0:0.0	.	1193;834;1194	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	L	1194;834;1193	ENSP00000357643:P1194L;ENSP00000357642:P834L	ENSP00000357642:P834L	P	-	2	0	MKI67	129796513	0.540000	0.26410	0.041000	0.18516	0.057000	0.15508	2.410000	0.44592	1.956000	0.56807	0.462000	0.41574	CCA	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050999.1		-	ENST00000368654.3	Missense_Mutation	SNP	10 : 129906523 - 129906523 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1139	30
REEP5	7905	broad.mit.edu	37	5	112228631	112228631	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112228631G>T	ENST00000513339.1	-	3	388				ZRSR1_ENST00000391338.1_Missense_Mutation_p.R432M|CTC-487M23.8_ENST00000512790.1_3'UTR|REEP5_ENST00000474542.2_Intron|REEP5_ENST00000545426.1_Intron|REEP5_ENST00000504247.1_Intron|REEP5_ENST00000379638.4_Intron|CTC-487M23.8_ENST00000506997.1_3'UTR			Q00765	REEP5_HUMAN	receptor accessory protein 5	NA						integral to membrane	protein binding			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)		GGAAGAAATAGGCACCGCAGC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001627	intron_variant			BC000232	CCDS4109.2	5q22-q23	2008-02-05	2006-02-07	2006-02-07	ENSG00000129625	ENSG00000129625	7905	7905		Receptor accessory proteins	30077	protein-coding gene	gene with protein product	deleted in polyposis 1, polyposis locus protein 1, polyposis coli region hypothetical protein DP1	125265	chromosome 5 open reading frame 18	C5orf18	NA	16271481, 15550249	Standard	NM_005669	NM_005669	NA	Approved	DP1, TB2, D5S346	uc003kqe.1	Q00765	OTTHUMG00000128807	ENST00000513339.1:c.351+9445C>A	5.37:g.112228631G>T		NA	D3DT04|Q04198|Q5QGT0|Q9BWH9	37		.	.	.	.	.	.	.	.	.	.	G	13.28	2.190893	0.38707	.	.	ENSG00000212643	ENST00000391338	T	0.02579	4.24	1.48	1.48	0.22813	.	0.136890	0.64402	D	0.000012	T	0.05090	0.0136	.	.	.	0.09310	N	1	P	0.50156	0.932	P	0.52881	0.712	T	0.22312	-1.0220	9	0.62326	D	0.03	.	3.8537	0.08967	0.235:0.0:0.765:0.0	.	432	Q15695	U2AFL_HUMAN	M	432	ENSP00000375133:R432M	ENSP00000375133:R432M	R	+	2	0	ZRSR1	112256530	0.988000	0.35896	0.010000	0.14722	0.004000	0.04260	2.106000	0.41835	1.115000	0.41800	0.467000	0.42956	AGG	REEP5-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000370775.2		-	ENST00000513339.1	Intron	SNP	5 : 112228631 - 112228631 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	87	22
COX8C	341947	broad.mit.edu	37	14	93814406	93814406	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93814406G>A	ENST00000342144.2	+	2	237	c.159G>A	c.(157-159)acG>acA	p.T53T	UNC79_ENST00000256339.4_Intron	NM_182971.2	NP_892016.1	Q7Z4L0	COX8C_HUMAN	cytochrome c oxidase subunit VIIIC	53						integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity	p.T53T(1)		large_intestine(1)|lung(1)|prostate(2)|skin(1)	5		all_cancers(154;0.083)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		TGTTTTTTACGACCTTCTTAA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(134;630 1800 8342 13106 15419)							NA				1	Substitution - coding silent(1)	lung(1)											190	137	155			NA	NA	14		NA											NA				93814406		2203	4300	6503	SO:0001819	synonymous_variant			AY161004	CCDS9910.1	14q32.13	2011-07-04	2011-05-25			ENSG00000187581	341947	341947		Mitochondrial respiratory chain complex / Complex IV	24382	protein-coding gene	gene with protein product	cytochrome c oxidase subunit VIII isoform 3		cytochrome c oxidase subunit 8C		NA	12909344	Standard	NM_182971	NM_182971	NA	Approved	COX8-3	uc001ybt.1	Q7Z4L0		ENST00000342144.2:c.159G>A	14.37:g.93814406G>A		NA	Q495K7	37	CCDS9910.1																																																																																			COX8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412769.1		+	ENST00000342144.2	Silent	SNP	14 : 93814406 - 93814406 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	70
HSPBAP1	79663	broad.mit.edu	37	3	122474183	122474183	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122474183A>C	ENST00000306103.2	-	5	808	c.665T>G	c.(664-666)gTt>gGt	p.V222G	HSPBAP1_ENST00000383659.1_3'UTR|HSPBAP1_ENST00000465044.1_5'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	222	JmjC.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		AGGATTGACAACATTGATTTT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	84	87			NA	NA	3		NA											NA				122474183		2203	4300	6503	SO:0001583	missense			AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087	79663	79663			16389	protein-coding gene	gene with protein product		608263	HSPB (heat shock 27kD) associated protein 1		NA	11978969	Standard	NM_024610	NM_024610	NA	Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.665T>G	3.37:g.122474183A>C	ENSP00000302562:p.Val222Gly	NA	Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	37	CCDS3017.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.576601	0.86645	.	.	ENSG00000169087	ENST00000306103	T	0.25749	1.78	5.24	5.24	0.73138	Cupin, JmjC-type (1);Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.056069	0.64402	D	0.000001	T	0.51907	0.1702	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.56251	-0.8010	10	0.59425	D	0.04	.	14.3887	0.66963	1.0:0.0:0.0:0.0	.	222	Q96EW2	HBAP1_HUMAN	G	222	ENSP00000302562:V222G	ENSP00000302562:V222G	V	-	2	0	HSPBAP1	123956873	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.569000	0.90744	1.994000	0.58287	0.473000	0.43528	GTT	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356161.1		-	ENST00000306103.2	Missense_Mutation	SNP	3 : 122474183 - 122474183 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	314	28
ARHGEF9	23229	broad.mit.edu	37	X	62898340	62898340	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:62898340C>T	ENST00000253401.6	-	5	1474	c.674G>A	c.(673-675)cGc>cAc	p.R225H	ARHGEF9_ENST00000437457.2_Missense_Mutation_p.R172H|ARHGEF9_ENST00000433323.2_5'UTR|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.R204H|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.R123H|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.R223H|ARHGEF9_ENST00000495564.1_5'UTR	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	225	DH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CTGCAAGAGGCGACAGGCCTC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	63	72			NA	NA	X		NA											NA				62898340		2203	4300	6503	SO:0001583	missense			AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089	23229	23229		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	14561	protein-coding gene	gene with protein product	collybistin	300429			NA	10559246, 9455477	Standard		NM_015185	NA	Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.674G>A	X.37:g.62898340C>T	ENSP00000253401:p.Arg225His	NA	Q5JSL6	37	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930612	0.92389	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000374872	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.08	5.08	0.68730	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.84656	0.5520	H	0.94925	3.6	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.89143	0.3518	10	0.66056	D	0.02	.	16.0426	0.80695	0.0:1.0:0.0:0.0	.	172;223;225;225	B4DHC7;B1AMR4;O43307;A8K1S8	.;.;ARHG9_HUMAN;.	H	225;223;172;123;204	ENSP00000253401:R225H;ENSP00000364012:R223H;ENSP00000399994:R172H;ENSP00000364004:R123H;ENSP00000364006:R204H	ENSP00000253401:R225H	R	-	2	0	ARHGEF9	62815065	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.201000	0.77847	2.087000	0.62958	0.600000	0.82982	CGC	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056937.1		-	ENST00000253401.6	Missense_Mutation	SNP	X : 62898340 - 62898340 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	57	17
MSH3	4437	broad.mit.edu	37	5	80150042	80150042	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80150042G>T	ENST00000265081.6	+	21	2987	c.2907G>T	c.(2905-2907)caG>caT	p.Q969H		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	969					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CAACATCACAGTCCTTGGTTA	0.403		NA						Mismatch excision repair (MMR)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(88;1010 1399 13793 26548 36275)							NA				0													137	125	129			NA	NA	5		NA											NA				80150042		2203	4300	6503	SO:0001583	missense			U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318	4437	4437			7326	protein-coding gene	gene with protein product	Divergent upstream protein, Mismatch repair protein 1	600887	mutS (E. coli) homolog 3, mutS homolog 3 (E. coli)		NA		Standard	NM_002439	NM_002439	NA	Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.2907G>T	5.37:g.80150042G>T	ENSP00000265081:p.Gln969His	NA	A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	37	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795617	0.31777	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.85171	-1.95	5.25	3.12	0.35913	DNA mismatch repair protein MutS, C-terminal (2);	0.163440	0.53938	D	0.000043	T	0.64000	0.2559	N	0.04994	-0.135	0.33381	D	0.574795	B	0.16166	0.016	B	0.19946	0.027	T	0.58607	-0.7607	9	.	.	.	-2.5097	4.2003	0.10462	0.1322:0.1499:0.5656:0.1523	.	969	P20585	MSH3_HUMAN	H	969;960	ENSP00000265081:Q969H	.	Q	+	3	2	MSH3	80185798	0.868000	0.29978	0.963000	0.40424	0.938000	0.57974	0.101000	0.15251	1.169000	0.42739	0.655000	0.94253	CAG	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369471.1		+	ENST00000265081.6	Missense_Mutation	SNP	5 : 80150042 - 80150042 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	495	103
GLB1L	79411	broad.mit.edu	37	2	220102328	220102328	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220102328G>T	ENST00000295759.7	-	16	1908	c.1595C>A	c.(1594-1596)cCt>cAt	p.P532H	GLB1L_ENST00000409640.1_Missense_Mutation_p.P442H|GLB1L_ENST00000356283.3_Missense_Mutation_p.P442H|GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000392089.2_Missense_Mutation_p.P532H			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	532					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGAGCTTGAGGATATGGCCA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	91	90			NA	NA	2		NA											NA				220102328		2203	4300	6503	SO:0001583	missense				CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521	79411	79411			28129	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_024506	XM_005246850	NA	Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.1595C>A	2.37:g.220102328G>T	ENSP00000295759:p.Pro532His	NA	Q96DR0	37	CCDS2437.1	.	.	.	.	.	.	.	.	.	.	G	4.735	0.136592	0.09032	.	.	ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283	D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23	5.09	1.17	0.20885	Galactose-binding domain-like (1);	0.645122	0.15254	N	0.272188	D	0.89146	0.6632	L	0.38175	1.15	0.09310	N	1	B;P	0.50943	0.001;0.94	B;P	0.50192	0.003;0.634	T	0.80580	-0.1319	10	0.44086	T	0.13	-0.3405	1.9772	0.03418	0.2197:0.1138:0.4649:0.2016	.	442;532	Q6UWU2-2;Q6UWU2	.;GLB1L_HUMAN	H	532;442;532;442	ENSP00000295759:P532H;ENSP00000386354:P442H;ENSP00000375939:P532H;ENSP00000348628:P442H	ENSP00000295759:P532H	P	-	2	0	GLB1L	219810572	0.070000	0.21116	0.018000	0.16275	0.438000	0.31896	0.519000	0.22862	0.735000	0.32537	0.655000	0.94253	CCT	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256822.2		-	ENST00000295759.7	Missense_Mutation	SNP	2 : 220102328 - 220102328 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	571	134
CST2	1470	broad.mit.edu	37	20	23807102	23807102	+	Missense_Mutation	SNP	G	G	A	rs112783512	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23807102G>A	ENST00000304725.2	-	1	266	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C		NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN	cystatin SA	66						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						CGCAGCAGGCGTCTGTAGTAC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(193;496 3017 22514 29918)							NA				0								G	CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	105	85	92		196	0.9	0	20	dbSNP_132	92	3,8597	3.0+/-9.4	0,3,4297	yes	missense	CST2	NM_001322.2	180	0,6,6497	AA,AG,GG	NA	0.0349,0.0681,0.0461	possibly-damaging	66/142	23807102	6,13000	2203	4300	6503	SO:0001583	missense			M19671	CCDS13161.1	20p11.2	2007-11-29			ENSG00000170369	ENSG00000170369	1470	1470			2474	protein-coding gene	gene with protein product	cystatin 2	123856			NA		Standard		NM_001322	NA	Approved		uc002wtq.1	P09228	OTTHUMG00000032086	ENST00000304725.2:c.196C>T	20.37:g.23807102G>A	ENSP00000307540:p.Arg66Cys	NA	Q9UCQ7	37	CCDS13161.1	.	.	.	.	.	.	.	.	.	.	G	9.743	1.165527	0.21538	6.81E-4	3.49E-4	ENSG00000170369	ENST00000304725	T	0.28255	1.62	2.0	0.943	0.19531	Proteinase inhibitor I25, cystatin (2);	0.376195	0.24379	N	0.039032	T	0.43233	0.1238	M	0.91612	3.225	0.09310	N	0.999999	P	0.40211	0.707	P	0.45119	0.47	T	0.39800	-0.9596	10	0.62326	D	0.03	.	5.7627	0.18209	0.0:0.0:0.6868:0.3132	.	66	P09228	CYTT_HUMAN	C	66	ENSP00000307540:R66C	ENSP00000307540:R66C	R	-	1	0	CST2	23755102	0.154000	0.22792	0.011000	0.14972	0.041000	0.13682	0.699000	0.25586	0.135000	0.18707	0.298000	0.19748	CGC	CST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078352.2		-	ENST00000304725.2	Missense_Mutation	SNP	20 : 23807102 - 23807102 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	306	49
SNX25	83891	broad.mit.edu	37	4	186278860	186278860	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186278860G>A	ENST00000504273.1	+	16	2422	c.2128G>A	c.(2128-2130)Gtt>Att	p.V710I	SNX25_ENST00000264694.8_Missense_Mutation_p.V710I|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	710					cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		AATTGCCCTCGTTCAGGTCAC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	157	160			NA	NA	4		NA											NA				186278860		2203	4300	6503	SO:0001583	missense			AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762	83891	83891		Sorting nexins	21883	protein-coding gene	gene with protein product					NA	12461558	Standard	NM_031953	NM_031953	NA	Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.2128G>A	4.37:g.186278860G>A	ENSP00000426255:p.Val710Ile	NA	Q3ZT30	37	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	G	35	5.546948	0.96488	.	.	ENSG00000109762	ENST00000504273;ENST00000264694;ENST00000264693	T;T	0.33438	1.41;1.41	5.9	5.9	0.94986	Sorting nexin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56558	0.1993	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	0.999;0.994;1.0	D;D;D	0.83275	0.943;0.909;0.996	T	0.45542	-0.9254	10	0.35671	T	0.21	-22.4775	20.2822	0.98520	0.0:0.0:1.0:0.0	.	426;243;710	Q8N6K3;Q9H5Q8;Q9H3E2	.;.;SNX25_HUMAN	I	710;710;243	ENSP00000426255:V710I;ENSP00000264694:V710I	ENSP00000264693:V243I	V	+	1	0	SNX25	186515854	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	9.476000	0.97823	2.806000	0.96561	0.655000	0.94253	GTT	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360756.1		+	ENST00000504273.1	Missense_Mutation	SNP	4 : 186278860 - 186278860 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	473	55
FAM200A	221786	broad.mit.edu	37	7	99146025	99146025	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99146025A>G	ENST00000449309.1	-	2	385	c.6T>C	c.(4-6)acT>acC	p.T2T		NM_145111.3	NP_659802.1	Q8TCP9	F200A_HUMAN	family with sequence similarity 200, member A	2						integral to membrane	nucleic acid binding			endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						TTGATTCAGGAGTCATTATTC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	63	62			NA	NA	7		NA											NA				99146025		2188	4297	6485	SO:0001819	synonymous_variant				CCDS5668.1	7q22.1	2010-02-22	2010-02-22	2010-02-22	ENSG00000221909	ENSG00000221909	221786	221786			25401	protein-coding gene	gene with protein product			chromosome 7 open reading frame 38	C7orf38	NA	10607616	Standard	NM_145111	NM_145111	NA	Approved	FLJ36794, DKFZp727G131	uc003ura.3	Q8TCP9	OTTHUMG00000156723	ENST00000449309.1:c.6T>C	7.37:g.99146025A>G		NA	A4D293|A8K3V9|B2RD92|C9J6A8|D6W5T2|Q8N9P3	37	CCDS5668.1																																																																																			FAM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345467.1		-	ENST00000449309.1	Silent	SNP	7 : 99146025 - 99146025 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	293	61
OTOP2	92736	broad.mit.edu	37	17	72923852	72923852	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72923852G>A	ENST00000580223.1	+	4	632	c.602G>A	c.(601-603)aGt>aAt	p.S201N	OTOP2_ENST00000331427.4_Missense_Mutation_p.S201N			Q7RTS6	OTOP2_HUMAN	otopetrin 2	201						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					TCCTACAGCAGTTCTCACAGC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	81	91			NA	NA	17		NA											NA				72923852		2203	4300	6503	SO:0001583	missense			BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034	92736	92736			19657	protein-coding gene	gene with protein product		607827			NA	12651873	Standard	NM_178160	NM_178160	NA	Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.602G>A	17.37:g.72923852G>A	ENSP00000463837:p.Ser201Asn	NA		37	CCDS11708.1	.	.	.	.	.	.	.	.	.	.	G	6.619	0.482573	0.12581	.	.	ENSG00000183034	ENST00000331427	T	0.21734	1.99	4.75	0.251	0.15540	.	1.299010	0.04493	N	0.379935	T	0.11965	0.0291	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.26189	-1.0110	10	0.17369	T	0.5	-15.6766	1.5731	0.02619	0.2565:0.1416:0.4567:0.1451	.	201	Q7RTS6	OTOP2_HUMAN	N	201	ENSP00000332528:S201N	ENSP00000332528:S201N	S	+	2	0	OTOP2	70435447	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.431000	0.21444	-0.002000	0.14469	0.561000	0.74099	AGT	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445306.1		+	ENST00000580223.1	Missense_Mutation	SNP	17 : 72923852 - 72923852 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	198	39
ZFC3H1	196441	broad.mit.edu	37	12	72057309	72057309	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72057309T>G	ENST00000552037.1	-	1	329	c.82A>C	c.(82-84)Agt>Cgt	p.S28R	ZFC3H1_ENST00000548100.1_Missense_Mutation_p.S28R|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000378743.3_Missense_Mutation_p.S28R			O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	28					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCGTCGTCACTGATTTCCCCA	0.647		NA									OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	105	100			NA	NA	12		NA											NA				72057309		2090	4221	6311	SO:0001583	missense			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858	196441	196441		Zinc finger, C3H1-type containing	28328	protein-coding gene	gene with protein product			proline/serine-rich coiled-coil 2, coiled-coil domain containing 131	PSRC2, CCDC131	NA	9628581	Standard	NM_144982	NM_144982	NA	Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000552037.1:c.82A>C	12.37:g.72057309T>G	ENSP00000447976:p.Ser28Arg	1134	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	37		.	.	.	.	.	.	.	.	.	.	T	15.16	2.751945	0.49362	.	.	ENSG00000133858	ENST00000378743;ENST00000548100;ENST00000552037	T	0.35789	1.29	4.13	4.13	0.48395	.	0.070259	0.56097	D	0.000036	T	0.38931	0.1059	N	0.19112	0.55	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.995	P;P;P	0.59288	0.855;0.855;0.72	T	0.38222	-0.9671	10	0.87932	D	0	.	12.7363	0.57225	0.0:0.0:0.0:1.0	.	28;28;28	G3V1X1;O60293-4;O60293	.;.;ZC3H1_HUMAN	R	28	ENSP00000368017:S28R	ENSP00000368017:S28R	S	-	1	0	ZFC3H1	70343576	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	3.598000	0.54038	2.104000	0.64026	0.455000	0.32223	AGT	ZFC3H1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000404761.1		-	ENST00000552037.1	Missense_Mutation	SNP	12 : 72057309 - 72057309 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1091	214
DNAH12	201625	broad.mit.edu	37	3	57494905	57494905	+	Silent	SNP	C	C	T	rs150553536		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57494905C>T	ENST00000389536.4	-	6	684	c.504G>A	c.(502-504)tcG>tcA	p.S168S	DNAH12_ENST00000351747.2_Silent_p.S168S|DNAH12_ENST00000311202.6_Silent_p.S168S			Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	168	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						CATCTTCAAGCGATTTAACTG	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	1,4405	2.1+/-5.4	0,1,2202	84	85	85		504,504	5.7	1	3	dbSNP_134	85	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	DNAH12	NM_178504.4,NM_198564.3	,	0,1,6501	TT,TC,CC	NA	0.0,0.0227,0.0077	,	168/3093,168/458	57494905	1,13003	2203	4299	6502	SO:0001819	synonymous_variant			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844	201625	201625		Axonemal dyneins	2943	protein-coding gene	gene with protein product		603340	dynein, axonemal, heavy polypeptide 12, dynein heavy chain domain 2, dynein heavy domain 2, dynein, axonemal, heavy chain 12-like, dynein, axonemal, heavy chain 7-like	DNHD2, DNAH12L, DNAH7L	NA	8812413, 8666668	Standard	NM_178504	NM_198564	NA	Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000389536.4:c.504G>A	3.37:g.57494905C>T		NA	A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	37																																																																																				DNAH12-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000351433.1		-	ENST00000389536.4	Silent	SNP	3 : 57494905 - 57494905 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	487	87
EIF4G2	1982	broad.mit.edu	37	11	10823295	10823295	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10823295C>T	ENST00000526148.1	-	14	1836	c.1326G>A	c.(1324-1326)caG>caA	p.Q442Q	EIF4G2_ENST00000525681.1_Silent_p.Q442Q|EIF4G2_ENST00000339995.5_Silent_p.Q442Q|EIF4G2_ENST00000396525.2_Intron	NM_001172705.1	NP_001166176	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	442					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.Q442H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTCCCTGACTCTGGTTATGGT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											117	112	114			NA	NA	11		NA											NA				10823295		2201	4294	6495	SO:0001819	synonymous_variant			U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321	1982	1982			3297	protein-coding gene	gene with protein product		602325			NA	9030685, 9032289	Standard	NM_001418	NM_001042559	NA	Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.1326G>A	11.37:g.10823295C>T		NA	O60877|P78404|Q0VH00|Q0VH01|Q2NKW9|Q49A79|Q53EU1|Q58EZ2|Q8NI71|Q96C16	37	CCDS31428.1																																																																																			EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386603.1		-	ENST00000526148.1	Silent	SNP	11 : 10823295 - 10823295 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	499	86
STEAP4	79689	broad.mit.edu	37	7	87912325	87912325	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87912325A>C	ENST00000380079.4	-	3	716	c.615T>G	c.(613-615)taT>taG	p.Y205*	AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000301959.5_Intron|STEAP4_ENST00000414498.1_Nonsense_Mutation_p.Y205*	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	205					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CAGCAGACAAATAGAAGGGGA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	81	82			NA	NA	7		NA											NA				87912325		1875	4106	5981	SO:0001587	stop_gained			AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954	79689	79689			21923	protein-coding gene	gene with protein product		611098	tumor necrosis factor, alpha-induced protein 9	TNFAIP9	NA	11443137, 15897894	Standard	NM_024636	NM_024636	NA	Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.615T>G	7.37:g.87912325A>C	ENSP00000369419:p.Tyr205*	NA	Q658Q9|Q687X4|Q8WWB0|Q9H5R1	37	CCDS43611.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.205892	0.79127	.	.	ENSG00000127954	ENST00000380079;ENST00000414498	.	.	.	6.08	-2.39	0.06602	.	0.397244	0.30800	N	0.008860	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.0254	4.0244	0.09680	0.4369:0.1028:0.3604:0.0999	.	.	.	.	X	205	.	ENSP00000369419:Y205X	Y	-	3	2	STEAP4	87750261	0.001000	0.12720	0.996000	0.52242	0.971000	0.66376	0.360000	0.20250	-0.059000	0.13154	0.482000	0.46254	TAT	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000332712.4		-	ENST00000380079.4	Nonsense_Mutation	SNP	7 : 87912325 - 87912325 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	405	69
RAB40C	57799	broad.mit.edu	37	16	676048	676048	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:676048C>T	ENST00000248139.3	+	5	695	c.492C>T	c.(490-492)atC>atT	p.I164I	RAB40C_ENST00000535977.1_Silent_p.I164I|RAB40C_ENST00000538492.1_Silent_p.I164I|RAB40C_ENST00000539661.1_Silent_p.I164I	NM_021168.4	NP_066991.3	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	164					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				TCAACGTCATCGAGTCCTTCA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(123;1631 1690 28262 44104 44957)							NA				0													111	95	101			NA	NA	16		NA											NA				676048		2201	4300	6501	SO:0001819	synonymous_variant			Z84779	CCDS10413.1	16p13.3	2008-07-28	2003-10-14		ENSG00000197562	ENSG00000197562	57799	57799		RAB, member RAS oncogene	18285	protein-coding gene	gene with protein product			RAS-like, family 8, member C	RASL8C	NA	11697911, 18485483	Standard	NM_021168	NM_021168	NA	Approved	RARL	uc021szv.1	Q96S21	OTTHUMG00000047854	ENST00000248139.3:c.492C>T	16.37:g.676048C>T		NA	A2IDE2|D3DU54|O60795|Q4TT41	37	CCDS10413.1																																																																																			RAB40C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109079.4		+	ENST00000248139.3	Silent	SNP	16 : 676048 - 676048 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	601	117
TRIM71	131405	broad.mit.edu	37	3	32860298	32860298	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32860298G>A	ENST00000383763.5	+	1	789	c.726G>A	c.(724-726)ccG>ccA	p.P242P		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	NA					multicellular organismal development	cytoplasm	zinc ion binding	p.P242P(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGCGCGGCCCGCCGGGTCCCG	0.721		NA												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)											11	12	12			NA	NA	3		NA											NA				32860298		1658	3720	5378	SO:0001819	synonymous_variant				CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557	131405	131405		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	32669	protein-coding gene	gene with protein product			tripartite motif-containing 71, tripartite motif containing 71		NA		Standard	NM_001039111	NM_001039111	NA	Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.726G>A	3.37:g.32860298G>A		NA		37	CCDS43060.1																																																																																			TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341565.3		+	ENST00000383763.5	Silent	SNP	3 : 32860298 - 32860298 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	274	46
FBXW5	54461	broad.mit.edu	37	9	139835759	139835759	+	Silent	SNP	C	C	T	rs138768587	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139835759C>T	ENST00000325285.3	-	8	1480	c.1401G>A	c.(1399-1401)acG>acA	p.T467T	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	467							catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		CGTCGTTGGGCGTGTAGGCGC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	36	38			NA	NA	9		NA											NA				139835759		2202	4299	6501	SO:0001819	synonymous_variant			BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069	54461	54461		F-boxes / WD-40 domains, WD repeat domain containing	13613	protein-coding gene	gene with protein product		609072	F-box and WD-40 domain protein 5		NA		Standard	NM_018998	NM_018998	NA	Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.1401G>A	9.37:g.139835759C>T		NA	B2RDZ6|Q5SPZ8|Q5SPZ9|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	37	CCDS7014.1																																																																																			FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055227.1		-	ENST00000325285.3	Silent	SNP	9 : 139835759 - 139835759 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	285	43
UEVLD	55293	broad.mit.edu	37	11	18557951	18557951	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18557951A>G	ENST00000541984.1	-	7	652				UEVLD_ENST00000535484.1_Splice_Site|UEVLD_ENST00000320750.6_Splice_Site|UEVLD_ENST00000396197.3_Splice_Site|UEVLD_ENST00000379387.4_Splice_Site|UEVLD_ENST00000543987.1_Splice_Site|UEVLD_ENST00000540666.1_Splice_Site	NM_001261386.1	NP_001248315.1	Q8IX04	UEVLD_HUMAN	UEV and lactate/malate dehyrogenase domains	NA					cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						AGTCAGTGTTACCTGTTGGAC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	145	149			NA	NA	11		NA											NA				18557951		2199	4293	6492	SO:0001627	intron_variant			AF503350	CCDS7843.1, CCDS41624.1, CCDS58122.1, CCDS58123.1, CCDS58124.1, CCDS58125.1, CCDS73266.1	11p15.1	2006-07-14			ENSG00000151116	ENSG00000151116	55293	55293			30866	protein-coding gene	gene with protein product		610985			NA	12427560	Standard	NM_018314	NM_001040697	NA	Approved	Attp, UEV3	uc001mot.4	Q8IX04	OTTHUMG00000167729	ENST00000541984.1:c.590-3917T>C	11.37:g.18557951A>G		NA	B2RB69|Q6P2F0|Q96FF5|Q9NUX7	37	CCDS58125.1	.	.	.	.	.	.	.	.	.	.	A	13.68	2.309367	0.40895	.	.	ENSG00000151116	ENST00000543987;ENST00000535484;ENST00000396197;ENST00000320750;ENST00000379387;ENST00000540110	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0631	0.53574	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UEVLD	18514527	1.000000	0.71417	1.000000	0.80357	0.509000	0.34042	4.689000	0.61723	2.167000	0.68274	0.374000	0.22700	.	UEVLD-015	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395928.1		-	ENST00000541984.1	Intron	SNP	11 : 18557951 - 18557951 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	490	119
TIPARP	25976	broad.mit.edu	37	3	156413716	156413716	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:156413716G>A	ENST00000461166.1	+	4	1737	c.1149G>A	c.(1147-1149)atG>atA	p.M383I	TIPARP_ENST00000295924.7_Missense_Mutation_p.M383I|TIPARP_ENST00000486483.1_Missense_Mutation_p.M383I|TIPARP_ENST00000542783.1_Missense_Mutation_p.M383I	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	383	WWE.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GATTTATGATGTGGAATAACC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(171;276 1987 3319 6837 11197)							NA				0													105	111	109			NA	NA	3		NA											NA				156413716		2203	4300	6503	SO:0001583	missense			BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659	25976	25976		Poly (ADP-ribose) polymerases	23696	protein-coding gene	gene with protein product		612480			NA	12851707	Standard	NM_015508	NM_001184717	NA	Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.1149G>A	3.37:g.156413716G>A	ENSP00000420612:p.Met383Ile	NA	D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	37	CCDS3177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.581|9.581	1.123516|1.123516	0.20959|0.20959	.|.	.|.	ENSG00000163659|ENSG00000163659	ENST00000486483;ENST00000295924;ENST00000461166;ENST00000473702;ENST00000481853;ENST00000542783|ENST00000495891	T;T;T;T;T;T|.	0.24350|.	1.86;1.86;1.86;1.86;1.86;1.86|.	5.47|5.47	5.47|5.47	0.80525|0.80525	WWE domain (1);|.	0.043555|.	0.85682|.	D|.	0.000000|.	T|T	0.30448|0.30448	0.0765|0.0765	N|N	0.22421|0.22421	0.69|0.69	0.31574|0.31574	N|N	0.655986|0.655986	B|.	0.06786|.	0.001|.	B|.	0.04013|.	0.001|.	T|T	0.29243|0.29243	-1.0018|-1.0018	10|5	0.49607|.	T|.	0.09|.	.|.	6.1501|6.1501	0.20306|0.20306	0.1552:0.1617:0.6831:0.0|0.1552:0.1617:0.6831:0.0	.|.	383|.	Q7Z3E1|.	PARPT_HUMAN|.	I|M	383|86	ENSP00000418757:M383I;ENSP00000295924:M383I;ENSP00000420612:M383I;ENSP00000419982:M383I;ENSP00000418829:M383I;ENSP00000438345:M383I|.	ENSP00000295924:M383I|.	M|V	+|+	3|1	0|0	TIPARP|TIPARP	157896410|157896410	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.996000|0.996000	0.29719|0.29719	2.579000|2.579000	0.87056|0.87056	0.460000|0.460000	0.39030|0.39030	ATG|GTG	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351618.1		+	ENST00000461166.1	Missense_Mutation	SNP	3 : 156413716 - 156413716 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	560	112
SNX18	112574	broad.mit.edu	37	5	53814741	53814741	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:53814741A>G	ENST00000381410.4	+	1	1149	c.959A>G	c.(958-960)tAc>tGc	p.Y320C	SNX18_ENST00000326277.3_Missense_Mutation_p.Y320C|SNX18_ENST00000343017.6_Missense_Mutation_p.Y320C	NM_001102575.1	NP_001096045.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	320	PX.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				GACTGGCTGTACGCGCGCCTG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	44	45			NA	NA	5		NA											NA				53814741		2203	4300	6503	SO:0001583	missense			AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996	112574	112574		Sorting nexins	19245	protein-coding gene	gene with protein product			sorting nexin associated golgi protein 1	SNAG1	NA	16782399, 17761170	Standard		NM_052870	NA	Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000381410.4:c.959A>G	5.37:g.53814741A>G	ENSP00000370817:p.Tyr320Cys	NA	Q05BB3|Q0VG02	37	CCDS43317.1	.	.	.	.	.	.	.	.	.	.	A	13.19	2.161752	0.38119	.	.	ENSG00000178996	ENST00000343017;ENST00000381410;ENST00000326277	T;T;T	0.39997	1.05;1.05;1.05	4.8	2.33	0.28932	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.67297	0.2878	M	0.92738	3.34	0.53005	D	0.999964	D;D	0.76494	0.997;0.999	D;D	0.79108	0.911;0.992	T	0.68243	-0.5460	10	0.87932	D	0	-19.6997	8.0741	0.30706	0.7244:0.1411:0.0:0.1345	.	320;320	Q96RF0;Q96RF0-2	SNX18_HUMAN;.	C	320	ENSP00000342276:Y320C;ENSP00000370817:Y320C;ENSP00000317332:Y320C	ENSP00000317332:Y320C	Y	+	2	0	SNX18	53850498	1.000000	0.71417	0.298000	0.25002	0.377000	0.30045	9.121000	0.94375	0.309000	0.22966	-0.472000	0.04984	TAC	SNX18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214073.2		+	ENST00000381410.4	Missense_Mutation	SNP	5 : 53814741 - 53814741 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	271	46
RXFP3	51289	broad.mit.edu	37	5	33938247	33938247	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33938247G>A	ENST00000330120.3	+	1	1757	c.1402G>A	c.(1402-1404)Gcc>Acc	p.A468T		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	468						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CAGCAGCTCTGCCTACTGACG	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	13	13			NA	NA	5		NA											NA				33938247		2022	3966	5988	SO:0001583	missense			D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631	51289	51289		GPCR / Class A : Relaxin family peptide receptors	24883	protein-coding gene	gene with protein product		609445	relaxin 3 receptor 1, relaxin family peptide receptor 3	RLN3R1	NA	15956688, 16507880	Standard	NM_016568	NM_016568	NA	Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.1402G>A	5.37:g.33938247G>A	ENSP00000328708:p.Ala468Thr	NA	Q14DA5	37	CCDS3900.1	.	.	.	.	.	.	.	.	.	.	G	6.750	0.507128	0.12883	.	.	ENSG00000182631	ENST00000330120	T	0.70986	-0.53	5.64	2.77	0.32553	.	0.501086	0.16447	N	0.214034	T	0.49525	0.1562	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41910	-0.9482	10	0.66056	D	0.02	-9.5993	5.1591	0.15050	0.1941:0.0:0.4271:0.3788	.	468	Q9NSD7	RL3R1_HUMAN	T	468	ENSP00000328708:A468T	ENSP00000328708:A468T	A	+	1	0	RXFP3	33974004	0.000000	0.05858	0.027000	0.17364	0.112000	0.19704	0.380000	0.20602	0.260000	0.21731	-0.181000	0.13052	GCC	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207369.1		+	ENST00000330120.3	Missense_Mutation	SNP	5 : 33938247 - 33938247 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	207	12
LCORL	254251	broad.mit.edu	37	4	17910775	17910775	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:17910775C>T	ENST00000326877.4	-	5	748	c.624G>A	c.(622-624)gaG>gaA	p.E208E	LCORL_ENST00000539056.1_Silent_p.E121E|LCORL_ENST00000382224.1_Silent_p.E124E|LCORL_ENST00000382226.5_Silent_p.E208E	NM_153686.7	NP_710153.2	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor corepressor-like	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						GGCCTTCCTGCTCTTCCTGAA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													187	181	183			NA	NA	4		NA											NA				17910775		2203	4300	6503	SO:0001819	synonymous_variant				CCDS3425.1, CCDS54749.1	4p15.32	2006-06-14			ENSG00000178177	ENSG00000178177	254251	254251			30776	protein-coding gene	gene with protein product		611799			NA	12560079	Standard	NM_153686	NM_153686	NA	Approved	MLR1, FLJ30696	uc021xmr.1	Q8N3X6	OTTHUMG00000128538	ENST00000326877.4:c.624G>A	4.37:g.17910775C>T		NA	Q96NK1	37	CCDS3425.1																																																																																			LCORL-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250373.2		-	ENST00000326877.4	Silent	SNP	4 : 17910775 - 17910775 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	615	110
SFTPB	6439	broad.mit.edu	37	2	85890797	85890797	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85890797G>A	ENST00000393822.3	-	8	981	c.882C>T	c.(880-882)agC>agT	p.S294S	SFTPB_ENST00000409383.1_Silent_p.S294S|SFTPB_ENST00000519937.2_Silent_p.S282S|SFTPB_ENST00000342375.3_Silent_p.S282S			P07988	PSPB_HUMAN	surfactant protein B	282					organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						TTGGGCCAGCGCTGTCATCCA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	28	27			NA	NA	2		NA											NA				85890797		2199	4298	6497	SO:0001819	synonymous_variant			J02761	CCDS1983.1, CCDS1983.2	2p12-p11.2	2008-08-26	2008-08-26		ENSG00000168878	ENSG00000168878	6439	6439			10801	protein-coding gene	gene with protein product		178640	surfactant, pulmonary-associated protein B	SFTP3	NA	2924687, 1346779	Standard	NM_198843	NM_198843	NA	Approved	SP-B	uc002sqh.3	P07988	OTTHUMG00000130181	ENST00000393822.3:c.882C>T	2.37:g.85890797G>A		NA	Q96R04	37	CCDS1983.2	.	.	.	.	.	.	.	.	.	.	G	4.191	0.034165	0.08101	.	.	ENSG00000168878	ENST00000428225	.	.	.	5.24	1.4	0.22301	.	.	.	.	.	T	0.24275	0.0588	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23511	-1.0186	4	.	.	.	2.0E-4	4.0805	0.09924	0.2665:0.0:0.571:0.1625	.	.	.	.	C	279	.	.	R	-	1	0	SFTPB	85744308	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.400000	0.20932	-0.020000	0.14032	0.561000	0.74099	CGC	SFTPB-202	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329848.2		-	ENST00000393822.3	Silent	SNP	2 : 85890797 - 85890797 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	105	37
LAMB2	3913	broad.mit.edu	37	3	49159704	49159704	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49159704G>A	ENST00000418109.1	-	29	4837	c.4673C>T	c.(4672-4674)gCg>gTg	p.A1558V	LAMB2_ENST00000305544.4_Missense_Mutation_p.A1558V	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1558	Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTCTGCAATCGCACCCGCCAG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	57	58			NA	NA	3		NA											NA				49159704		2203	4300	6503	SO:0001583	missense				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037	3913	3913		Laminins	6487	protein-coding gene	gene with protein product	laminin S	150325		LAMS	NA	2922051, 10393422	Standard	NM_002292	NM_002292	NA	Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.4673C>T	3.37:g.49159704G>A	ENSP00000388325:p.Ala1558Val	NA	Q16321	37	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358164	0.41801	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000395387	T;T	0.34859	1.34;1.34	5.27	-5.68	0.02436	.	0.294380	0.35525	N	0.003158	T	0.18676	0.0448	N	0.08118	0	0.09310	N	1	B	0.27700	0.186	B	0.21151	0.033	T	0.03545	-1.1026	10	0.66056	D	0.02	.	21.1267	0.99946	0.0:0.0:0.1172:0.8828	.	1558	P55268	LAMB2_HUMAN	V	1558;1558;325	ENSP00000388325:A1558V;ENSP00000307156:A1558V	ENSP00000307156:A1558V	A	-	2	0	LAMB2	49134708	0.637000	0.27216	0.000000	0.03702	0.679000	0.39708	1.191000	0.32138	-0.833000	0.04245	0.650000	0.86243	GCG	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345939.1		-	ENST00000418109.1	Missense_Mutation	SNP	3 : 49159704 - 49159704 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	384	81
TPCN2	219931	broad.mit.edu	37	11	68830434	68830434	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68830434G>A	ENST00000294309.3	+	6	730	c.629G>A	c.(628-630)cGc>cAc	p.R210H	TPCN2_ENST00000542467.1_Missense_Mutation_p.R210H|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	210					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AAATGCATCCGCTGGTCGCTG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	106	107			NA	NA	11		NA											NA				68830434		2200	4294	6494	SO:0001583	missense			AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341	219931	219931		Voltage-gated ion channels / Two-pore channels	20820	protein-coding gene	gene with protein product		612163			NA	16382101	Standard	NM_139075	NM_139075	NA	Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.629G>A	11.37:g.68830434G>A	ENSP00000294309:p.Arg210His	NA	Q9NT82	37	CCDS8189.1	.	.	.	.	.	.	.	.	.	.	g	11.67	1.707623	0.30322	.	.	ENSG00000162341	ENST00000356782;ENST00000294309;ENST00000535009;ENST00000542467	D;D	0.98419	-4.92;-4.92	4.59	2.37	0.29283	Ion transport (1);	0.185451	0.43260	N	0.000583	D	0.97961	0.9329	M	0.73962	2.25	0.19575	N	0.999961	D;D;B	0.76494	0.999;0.998;0.06	D;D;B	0.66979	0.948;0.912;0.038	D	0.92929	0.6362	10	0.19147	T	0.46	-20.9359	6.095	0.20015	0.4607:0.0:0.5393:0.0	.	210;210;125	E7ETX0;Q8NHX9;F5H1G5	.;TPC2_HUMAN;.	H	140;210;125;210	ENSP00000294309:R210H;ENSP00000445551:R210H	ENSP00000294309:R210H	R	+	2	0	TPCN2	68587010	1.000000	0.71417	0.007000	0.13788	0.069000	0.16628	2.955000	0.49121	0.395000	0.25257	-1.194000	0.01681	CGC	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396878.2		+	ENST00000294309.3	Missense_Mutation	SNP	11 : 68830434 - 68830434 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	989	190
MRPS11	64963	broad.mit.edu	37	15	89018411	89018411	+	Missense_Mutation	SNP	C	C	T	rs149047976		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89018411C>T	ENST00000325844.4	+	4	617	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W	MRPS11_ENST00000557974.1_3'UTR|MRPS11_ENST00000353598.6_Missense_Mutation_p.R85W	NM_022839.3	NP_073750.2	P82912	RT11_HUMAN	mitochondrial ribosomal protein S11	118					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	p.R118W(1)		large_intestine(3)	3	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AGAGGGATTTCGGAATGCCAA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)						C	TRP/ARG,TRP/ARG	3,4399	4.2+/-10.8	0,3,2198	120	103	109		352,253	4.3	1	15	dbSNP_134	109	0,8598		0,0,4299	yes	missense,missense	MRPS11	NM_022839.3,NM_176805.2	101,101	0,3,6497	TT,TC,CC	NA	0.0,0.0682,0.0231	probably-damaging,probably-damaging	118/195,85/162	89018411	3,12997	2201	4299	6500	SO:0001583	missense			AB051349	CCDS10342.1, CCDS10343.1	15q25	2012-09-13			ENSG00000181991	ENSG00000181991	64963	64963		Mitochondrial ribosomal proteins / small subunits	14050	protein-coding gene	gene with protein product	cervical cancer proto-oncogene 2	611977			NA	11402041	Standard	NM_022839	NM_022839	NA	Approved	FLJ23406, HCC-2, FLJ22512	uc002bml.3	P82912	OTTHUMG00000148678	ENST00000325844.4:c.352C>T	15.37:g.89018411C>T	ENSP00000317376:p.Arg118Trp	NA	B2RD52|Q969D7|Q96GI3|Q9BYC3	37	CCDS10342.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049306	0.36181	6.82E-4	0.0	ENSG00000181991	ENST00000325844;ENST00000353598	T;T	0.37235	1.32;1.21	5.31	4.32	0.51571	.	0.113323	0.56097	D	0.000033	T	0.62780	0.2456	M	0.87269	2.87	0.40465	D	0.980286	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.971;0.99;0.983	T	0.70200	-0.4937	10	0.87932	D	0	-14.4484	12.2988	0.54862	0.2645:0.7355:0.0:0.0	.	117;85;118	P82912-2;P82912-3;P82912	.;.;RT11_HUMAN	W	118;85	ENSP00000317376:R118W;ENSP00000318054:R85W	ENSP00000317376:R118W	R	+	1	2	MRPS11	86819415	0.976000	0.34144	0.989000	0.46669	0.900000	0.52787	1.300000	0.33436	2.479000	0.83701	0.655000	0.94253	CGG	MRPS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000309067.2		+	ENST00000325844.4	Missense_Mutation	SNP	15 : 89018411 - 89018411 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	408	64
FAM160A2	84067	broad.mit.edu	37	11	6238932	6238932	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6238932A>G	ENST00000265978.4	-	9	2284	c.1926T>C	c.(1924-1926)ggT>ggC	p.G642G	FAM160A2_ENST00000449352.2_Silent_p.G628G|FAM160A2_ENST00000524416.1_Silent_p.G628G	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	628					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGGGCAGGTGACCAGGGccct	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	22	21			NA	NA	11		NA											NA				6238932		2197	4287	6484	SO:0001819	synonymous_variant				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009	84067	84067			25378	protein-coding gene	gene with protein product			chromosome 11 open reading frame 56	C11orf56	NA	11230166, 11214970	Standard	NM_032127	NM_001098794	NA	Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000265978.4:c.1926T>C	11.37:g.6238932A>G		NA	Q9C0A4|Q9H0N3|Q9H624	37	CCDS7760.1																																																																																			FAM160A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257229.2		-	ENST00000265978.4	Silent	SNP	11 : 6238932 - 6238932 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	192	41
TMEM128	85013	broad.mit.edu	37	4	4242094	4242094	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:4242094C>T	ENST00000254742.2	-	3	866	c.280G>A	c.(280-282)Gcc>Acc	p.A94T	TMEM128_ENST00000382753.4_Missense_Mutation_p.A118T|TMEM128_ENST00000538516.1_Missense_Mutation_p.A118T|TMEM128_ENST00000540397.1_Missense_Mutation_p.A118T	NM_032927.2	NP_116316.1	Q5BJH2	TM128_HUMAN	transmembrane protein 128	118						integral to membrane				endometrium(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		GGTATCAAGGCTGGATACTTG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	108	117			NA	NA	4		NA											NA				4242094		2203	4300	6503	SO:0001583	missense			BC007729	CCDS3373.1, CCDS75099.1	4p16.3	2008-02-05			ENSG00000132406	ENSG00000132406	85013	85013			28201	protein-coding gene	gene with protein product					NA		Standard	NM_032927	XM_005248034	NA	Approved	MGC13159	uc003ghq.1	Q5BJH2	OTTHUMG00000125475	ENST00000254742.2:c.280G>A	4.37:g.4242094C>T	ENSP00000254742:p.Ala94Thr	NA	B4DHS7|D3DVS3|Q5H9U6|Q96I94	37	CCDS3373.1	.	.	.	.	.	.	.	.	.	.	C	7.626	0.677821	0.14841	.	.	ENSG00000132406	ENST00000254742;ENST00000382753;ENST00000538516;ENST00000540397	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	5.48	-10.3	0.00346	.	0.847211	0.10602	N	0.655600	T	0.55816	0.1944	N	0.05351	-0.065	0.09310	N	1	B;B;B;B	0.10296	0.001;0.003;0.003;0.001	B;B;B;B	0.11329	0.006;0.006;0.004;0.004	T	0.45234	-0.9275	10	0.22706	T	0.39	-0.0782	13.3231	0.60444	0.1752:0.7316:0.0:0.0933	.	118;118;118;94	B7Z3K1;Q5BJH2;D3DVS1;Q5BJH2-2	.;TM128_HUMAN;.;.	T	94;118;118;118	ENSP00000254742:A94T;ENSP00000372201:A118T;ENSP00000442300:A118T;ENSP00000439174:A118T	ENSP00000254742:A94T	A	-	1	0	TMEM128	4292995	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.607000	0.05648	-2.754000	0.00373	-0.156000	0.13503	GCC	TMEM128-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000246797.1		-	ENST00000254742.2	Missense_Mutation	SNP	4 : 4242094 - 4242094 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	198	33
COL18A1	80781	broad.mit.edu	37	21	46911190	46911190	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46911190G>A	ENST00000359759.4	+	21	3385	c.3364G>A	c.(3364-3366)Gga>Aga	p.G1122R	COL18A1_ENST00000400337.2_Missense_Mutation_p.G707R|COL18A1_ENST00000355480.5_Missense_Mutation_p.G887R			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1122	Triple-helical region 4 (COL4).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TGGCCCCCCCGGACCCCCGGG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ARG/GLY,ARG/GLY	0,3834		0,0,1917	18	24	22		2659,2119	3.8	1	21		22	1,8187		0,1,4093	no	missense,missense	COL18A1	NM_030582.3,NM_130445.2	125,125	0,1,6010	AA,AG,GG	NA	0.0122,0.0,0.0083	probably-damaging,probably-damaging	887/1520,707/1340	46911190	1,12021	1917	4094	6011	SO:0001583	missense				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871	80781	80781		Collagens	2195	protein-coding gene	gene with protein product	endostatin	120328	Knobloch syndrome, type 1	KNO	NA	8188291, 8776601, 10942434, 17546652	Standard		NM_130445	NA	Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.3364G>A	21.37:g.46911190G>A	ENSP00000352798:p.Gly1122Arg	NA	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	37		.	.	.	.	.	.	.	.	.	.	G	17.78	3.473025	0.63737	0.0	1.22E-4	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645;ENST00000342220	D;D;D;D	0.98807	-5.15;-5.15;-5.15;-5.15	3.85	3.85	0.44370	.	0.000000	0.64402	D	0.000001	D	0.99411	0.9792	H	0.97635	4.045	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98124	1.0427	10	0.72032	D	0.01	.	13.6811	0.62487	0.0:0.0:1.0:0.0	.	1122;887;707	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	R	707;707;887;1122;1122;54	ENSP00000383191:G707R;ENSP00000347665:G887R;ENSP00000352798:G1122R;ENSP00000339118:G54R	ENSP00000339118:G54R	G	+	1	0	COL18A1	45735618	0.953000	0.32496	0.963000	0.40424	0.253000	0.25986	1.790000	0.38734	2.159000	0.67721	0.561000	0.74099	GGA	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000206827.1		+	ENST00000359759.4	Missense_Mutation	SNP	21 : 46911190 - 46911190 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	215	36
CENPT	80152	broad.mit.edu	37	16	67865777	67865777	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67865777G>T	ENST00000562787.1	-	8	951	c.403C>A	c.(403-405)Cct>Act	p.P135T	CENPT_ENST00000445712.2_Missense_Mutation_p.P32T|CENPT_ENST00000564817.1_Missense_Mutation_p.P135T|CENPT_ENST00000440851.2_Missense_Mutation_p.P135T|CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000219172.3_Missense_Mutation_p.P135T	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	135					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		TCGAGCTCAGGAAGTTGCAGC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	22	21			NA	NA	16		NA											NA				67865777		1934	4128	6062	SO:0001583	missense			AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901	80152	80152			25787	protein-coding gene	gene with protein product		611510	chromosome 16 open reading frame 56	C16orf56	NA	16622420, 16622419	Standard	NM_025082	NM_025082	NA	Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.403C>A	16.37:g.67865777G>T	ENSP00000457810:p.Pro135Thr	NA	Q96I29|Q96IC6|Q96NK9|Q9H901	37	CCDS42182.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376729	0.82682	.	.	ENSG00000102901	ENST00000440851;ENST00000219172;ENST00000445712	D;D;D	0.81659	-1.52;-1.52;-1.52	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000004	D	0.89431	0.6713	M	0.74881	2.28	0.42055	D	0.991135	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89459	0.3735	10	0.62326	D	0.03	-20.6962	16.3795	0.83443	0.0:0.0:1.0:0.0	.	32;135;135	B4DMP9;Q96BT3;B3KPB2	.;CENPT_HUMAN;.	T	135;135;32	ENSP00000400140:P135T;ENSP00000219172:P135T;ENSP00000411594:P32T	ENSP00000219172:P135T	P	-	1	0	CENPT	66423278	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.489000	0.60309	2.941000	0.99782	0.655000	0.94253	CCT	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000422020.1		-	ENST00000562787.1	Missense_Mutation	SNP	16 : 67865777 - 67865777 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	96	29
ZNF318	24149	broad.mit.edu	37	6	43324962	43324962	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43324962C>A	ENST00000361428.2	-	3	1167	c.1090G>T	c.(1090-1092)Gga>Tga	p.G364*	ZNF318_ENST00000318149.3_Nonsense_Mutation_p.G364*	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	364					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AAAGAATATCCTGGCTCCGAT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	144	155			NA	NA	6		NA											NA				43324962		2203	4300	6503	SO:0001587	stop_gained			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467	24149	24149		Zinc fingers, C2H2-type	13578	protein-coding gene	gene with protein product					NA	10873617	Standard	NM_014345	NM_014345	NA	Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.1090G>T	6.37:g.43324962C>A	ENSP00000354964:p.Gly364*	NA	O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	37	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	37	6.181517	0.97352	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	.	.	.	5.64	5.64	0.86602	.	0.175232	0.40640	N	0.001045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-9.6293	13.5617	0.61793	0.0:0.7976:0.2024:0.0	.	.	.	.	X	364	.	ENSP00000323032:G364X	G	-	1	0	ZNF318	43432940	0.992000	0.36948	1.000000	0.80357	0.972000	0.66771	3.062000	0.49971	2.663000	0.90544	0.650000	0.86243	GGA	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040601.2		-	ENST00000361428.2	Nonsense_Mutation	SNP	6 : 43324962 - 43324962 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	411	71
HRASLS5	117245	broad.mit.edu	37	11	63257730	63257730	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63257730C>T	ENST00000539221.1	-	2	387	c.254G>A	c.(253-255)aGa>aAa	p.R85K	HRASLS5_ENST00000301790.4_Missense_Mutation_p.R85K|HRASLS5_ENST00000540857.1_Missense_Mutation_p.R75K			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	85										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						CTGGATGCTTCTGCCCTGTTC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													198	224	215			NA	NA	11		NA											NA				63257730		2201	4298	6499	SO:0001583	missense			AJ416558	CCDS8044.1, CCDS53646.1, CCDS53647.1	11q13.2	2006-08-16			ENSG00000168004	ENSG00000168004	117245	117245			24978	protein-coding gene	gene with protein product		611474			NA		Standard	NM_054108	NM_001146729	NA	Approved	HRLP5	uc001nwy.2	Q96KN8	OTTHUMG00000167806	ENST00000539221.1:c.254G>A	11.37:g.63257730C>T	ENSP00000443873:p.Arg85Lys	NA		37	CCDS53647.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.785824	0.31593	.	.	ENSG00000168004	ENST00000540857;ENST00000539221;ENST00000301790	T;T;T	0.28666	1.6;2.1;1.61	3.75	-1.76	0.08006	.	5.966510	0.00357	N	0.000021	T	0.22551	0.0544	L	0.32530	0.975	0.09310	N	1	B;B;B	0.33103	0.397;0.017;0.231	B;B;B	0.34722	0.188;0.005;0.058	T	0.15263	-1.0443	10	0.66056	D	0.02	-24.3145	0.7116	0.00925	0.1686:0.3593:0.1649:0.3072	.	85;75;85	F5GZ87;F5H4Y9;Q96KN8	.;.;HRSL5_HUMAN	K	75;85;85	ENSP00000444809:R75K;ENSP00000443873:R85K;ENSP00000301790:R85K	ENSP00000301790:R85K	R	-	2	0	HRASLS5	63014306	0.000000	0.05858	0.001000	0.08648	0.038000	0.13279	-0.857000	0.04286	-0.330000	0.08514	-0.140000	0.14226	AGA	HRASLS5-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396374.1		-	ENST00000539221.1	Missense_Mutation	SNP	11 : 63257730 - 63257730 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2086	387
CNTN3	5067	broad.mit.edu	37	3	74418379	74418379	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:74418379G>A	ENST00000263665.6	-	7	934	c.907C>T	c.(907-909)Cga>Tga	p.R303*		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	303	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TTTTTTCCTCGTGAATTCTCA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	70	71			NA	NA	3		NA											NA				74418379		2203	4299	6502	SO:0001587	stop_gained			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805	5067	5067		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	2173	protein-coding gene	gene with protein product		601325		PANG	NA	8661054, 8586965	Standard	NM_020872	XM_005264757	NA	Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.907C>T	3.37:g.74418379G>A	ENSP00000263665:p.Arg303*	NA	B9EK50|Q9H039	37	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	G	36	5.931654	0.97116	.	.	ENSG00000113805	ENST00000263665	.	.	.	5.01	1.64	0.23874	.	0.062472	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1043	0.59239	0.0:0.0:0.4209:0.5791	.	.	.	.	X	303	.	ENSP00000263665:R303X	R	-	1	2	CNTN3	74501069	0.988000	0.35896	0.957000	0.39632	0.991000	0.79684	2.049000	0.41288	0.429000	0.26202	0.591000	0.81541	CGA	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352306.1		-	ENST00000263665.6	Nonsense_Mutation	SNP	3 : 74418379 - 74418379 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	200	27
BRD3	8019	broad.mit.edu	37	9	136913346	136913346	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136913346G>A	ENST00000303407.7	-	6	1130	c.945C>T	c.(943-945)tgC>tgT	p.C315C	BRD3_ENST00000357885.2_Silent_p.C315C|BRD3_ENST00000371834.2_Silent_p.C315C	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	315						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GGATGCTGTCGCAGTAGCGTA	0.642		NA	T	C15orf55	lethal midline carcinoma of young people									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		9	9q34	8019	bromodomain containing 3		E	0								G		0,4406		0,0,2203	85	61	69		945	-4.3	1	9		69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BRD3	NM_007371.3		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		315/727	136913346	1,13005	2203	4300	6503	SO:0001819	synonymous_variant				CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925	8019	8019			1104	protein-coding gene	gene with protein product	RING3-like	601541	bromodomain-containing 3		NA	7584044, 8781126	Standard	NM_007371	NM_007371	NA	Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.945C>T	9.37:g.136913346G>A		NA	B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	37	CCDS6980.1																																																																																			BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055390.4		-	ENST00000303407.7	Silent	SNP	9 : 136913346 - 136913346 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	181	24
PNPLA7	375775	broad.mit.edu	37	9	140400201	140400201	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140400201G>T	ENST00000277531.4	-	13	1449	c.1263C>A	c.(1261-1263)agC>agA	p.S421R	PNPLA7_ENST00000371457.1_Missense_Mutation_p.S27R|PNPLA7_ENST00000406427.1_Missense_Mutation_p.S446R	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	421				FLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETL ASRKSDAIFRAAKKDLLTLMKLEDSSLLDG -> LCLLPQC LGGLPPTDTSVYSSASSDCCGCSMPVLCIMGHKPHVTVDT (in Ref. 1; BAC86509).	lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CAACCATCACGCTTTTCCTGG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	134	141			NA	NA	9		NA											NA				140400201		2203	4300	6503	SO:0001583	missense			AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653	375775	375775		Patatin-like phospholipase domain containing	24768	protein-coding gene	gene with protein product		612122	chromosome 9 open reading frame 111	C9orf111	NA	16799181, 12640454, 19029121	Standard	NM_152286	XM_005266082	NA	Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.1263C>A	9.37:g.140400201G>T	ENSP00000277531:p.Ser421Arg	NA	B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	37	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	6.228	0.410125	0.11812	.	.	ENSG00000130653	ENST00000371457;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T	0.71341	-0.56;0.23;0.23;0.24	4.26	-8.53	0.00916	.	0.823959	0.11124	N	0.597110	T	0.59238	0.2179	L	0.57536	1.79	0.37440	D	0.914394	B;B	0.12013	0.005;0.001	B;B	0.14023	0.01;0.004	T	0.11690	-1.0577	10	0.37606	T	0.19	-2.0329	11.2443	0.48987	0.7541:0.0:0.129:0.1169	.	446;421	Q6ZV29-5;Q6ZV29	.;PLPL7_HUMAN	R	27;421;446;421;412	ENSP00000360512:S27R;ENSP00000277531:S421R;ENSP00000384610:S446R;ENSP00000400582:S412R	ENSP00000277531:S421R	S	-	3	2	PNPLA7	139520022	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.997000	0.01470	-2.187000	0.00759	-0.482000	0.04802	AGC	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254787.1		-	ENST00000277531.4	Missense_Mutation	SNP	9 : 140400201 - 140400201 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	798	131
IFFO1	25900	broad.mit.edu	37	12	6664931	6664931	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6664931C>T	ENST00000336604.4	-	1	306	c.265G>A	c.(265-267)Gcc>Acc	p.A89T	IFFO1_ENST00000356896.4_Missense_Mutation_p.A89T|IFFO1_ENST00000396840.2_Missense_Mutation_p.A89T	NM_080730.4	NP_542768.2	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	89						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						TGCACCTTGGCCAGGAAGCAG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	45	44			NA	NA	12		NA											NA				6664931		2203	4300	6503	SO:0001583	missense			AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295	25900	25900		Intermediate filament family orphans	24970	protein-coding gene	gene with protein product		610495	intermediate filament family orphan	IFFO	NA	8771189, 3052284	Standard	NM_080730	NM_001193457	NA	Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000336604.4:c.265G>A	12.37:g.6664931C>T	ENSP00000337593:p.Ala89Thr	NA	Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	37	CCDS8550.2	.	.	.	.	.	.	.	.	.	.	C	33	5.281834	0.95489	.	.	ENSG00000010295	ENST00000336604;ENST00000396840;ENST00000356896	D;D;D	0.95980	-3.87;-3.87;-3.87	4.22	4.22	0.49857	.	0.254984	0.23266	N	0.050068	D	0.94551	0.8245	L	0.54323	1.7	0.80722	D	1	P;P;P;P	0.43094	0.799;0.799;0.799;0.799	P;P;P;P	0.44811	0.461;0.461;0.461;0.461	D	0.95380	0.8472	10	0.87932	D	0	-16.8933	15.5044	0.75725	0.0:1.0:0.0:0.0	.	89;89;89;89	Q0D2I5-7;Q0D2I5-4;Q0D2I5;Q0D2I5-5	.;.;IFFO1_HUMAN;.	T	89	ENSP00000337593:A89T;ENSP00000380052:A89T;ENSP00000349364:A89T	ENSP00000337593:A89T	A	-	1	0	IFFO1	6535192	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.614000	0.74197	2.172000	0.68678	0.561000	0.74099	GCC	IFFO1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280421.1		-	ENST00000336604.4	Missense_Mutation	SNP	12 : 6664931 - 6664931 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	380	41
B4GALNT4	338707	broad.mit.edu	37	11	376150	376150	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:376150G>A	ENST00000329962.6	+	12	1172	c.1172G>A	c.(1171-1173)cGc>cAc	p.R391H		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	391						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCTTCTACCGCGAGTCTCCG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	28	29			NA	NA	11		NA											NA				376150		2201	4290	6491	SO:0001583	missense			AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	338707	338707	2.4.1.-	Beta 4-glycosyltransferases	26315	protein-coding gene	gene with protein product					NA	15044014	Standard	NM_178537	NM_178537	NA	Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.1172G>A	11.37:g.376150G>A	ENSP00000328277:p.Arg391His	NA	Q96LV2	37	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	g	24.3	4.520086	0.85495	.	.	ENSG00000182272	ENST00000329962	T	0.72615	-0.67	3.01	3.01	0.34805	.	0.137013	0.44688	D	0.000430	T	0.79953	0.4535	L	0.55990	1.75	0.49213	D	0.999765	D	0.89917	1.0	D	0.80764	0.994	T	0.83037	-0.0159	10	0.72032	D	0.01	-20.3149	15.2295	0.73374	0.0:0.0:1.0:0.0	.	391	Q76KP1	B4GN4_HUMAN	H	391	ENSP00000328277:R391H	ENSP00000328277:R391H	R	+	2	0	B4GALNT4	366150	1.000000	0.71417	0.977000	0.42913	0.875000	0.50365	5.187000	0.65087	1.978000	0.57642	0.436000	0.28706	CGC	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239289.2		+	ENST00000329962.6	Missense_Mutation	SNP	11 : 376150 - 376150 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	251	41
TTN	7273	broad.mit.edu	37	2	179412905	179412905	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179412905G>A	ENST00000589042.1	-	339	93672	c.93448C>T	c.(93448-93450)Ctt>Ttt	p.L31150F	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L29509F|TTN_ENST00000359218.5_Missense_Mutation_p.L22210F|TTN_ENST00000342175.6_Missense_Mutation_p.L22277F|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L28582F|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L22085F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29509	Ig-like 139.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCATTTCAAGCAGGTAGCCA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	160	158			NA	NA	2		NA											NA				179412905		1971	4157	6128	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.93448C>T	2.37:g.179412905G>A	ENSP00000467141:p.Leu31150Phe	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538536	0.45176	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.65	4.76	0.60689	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66723	0.2818	M	0.70595	2.14	0.38867	D	0.956614	D;D;D;P	0.54772	0.968;0.968;0.968;0.942	P;P;P;P	0.51777	0.679;0.679;0.679;0.628	T	0.73830	-0.3859	9	0.87932	D	0	.	13.6656	0.62393	0.0:0.0:0.7186:0.2814	.	22085;22210;22277;29509	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	28582;22085;22277;22210;22082	ENSP00000343764:L28582F;ENSP00000434586:L22085F;ENSP00000340554:L22277F;ENSP00000352154:L22210F	ENSP00000340554:L22277F	L	-	1	0	TTN	179121151	1.000000	0.71417	0.926000	0.36857	0.991000	0.79684	2.820000	0.48057	1.354000	0.45846	-0.182000	0.12963	CTT	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179412905 - 179412905 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1277	320
FCN3	8547	broad.mit.edu	37	1	27697117	27697117	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27697117C>T	ENST00000270879.4	-	7	633	c.628G>A	c.(628-630)Gca>Aca	p.A210T	FCN3_ENST00000354982.2_Missense_Mutation_p.A199T	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	210	Fibrinogen C-terminal.				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TTGCCCAGTGCCAGCTGGTAG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	109	110			NA	NA	1		NA											NA				27697117		2203	4300	6503	SO:0001583	missense			D88587	CCDS300.1, CCDS301.1	1p36.11	2014-09-17	2013-09-12		ENSG00000142748	ENSG00000142748	8547	8547		Fibrinogen C domain containing	3625	protein-coding gene	gene with protein product	Hakata antigen	604973	ficolin (collagen/fibrinogen domain-containing) 3 (Hakata antigen)		NA	9694814, 10330454	Standard		NM_003665	NA	Approved	FCNH, HAKA1	uc001boa.3	O75636	OTTHUMG00000005722	ENST00000270879.4:c.628G>A	1.37:g.27697117C>T	ENSP00000270879:p.Ala210Thr	NA	Q6IBJ5|Q8WW86	37	CCDS300.1	.	.	.	.	.	.	.	.	.	.	C	7.991	0.753229	0.15778	.	.	ENSG00000142748	ENST00000270879;ENST00000354982;ENST00000498393	T;T	0.76448	-1.02;-1.02	5.26	2.29	0.28610	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	1.227220	0.06133	N	0.671032	T	0.48259	0.1490	N	0.01438	-0.865	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.11329	0.006;0.006	T	0.38802	-0.9644	10	0.21014	T	0.42	.	2.1015	0.03681	0.1596:0.5091:0.1551:0.1763	.	199;210	Q6UXM4;O75636	.;FCN3_HUMAN	T	210;199;88	ENSP00000270879:A210T;ENSP00000347077:A199T	ENSP00000270879:A210T	A	-	1	0	FCN3	27569704	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	-0.305000	0.08188	0.295000	0.22570	0.558000	0.71614	GCA	FCN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000015667.1		-	ENST00000270879.4	Missense_Mutation	SNP	1 : 27697117 - 27697117 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	575	121
MASP2	10747	broad.mit.edu	37	1	11106656	11106656	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11106656G>A	ENST00000400897.3	-	3	384	c.369C>T	c.(367-369)aaC>aaT	p.N123N	MASP2_ENST00000400898.3_Silent_p.N123N	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	123	CUB 1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		ACGGCTTCTCGTTGGAGTAGT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(35;611 746 20780 22741 36496)							NA				0													53	46	48			NA	NA	1		NA											NA				11106656		2203	4300	6503	SO:0001819	synonymous_variant			X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724	10747	10747			6902	protein-coding gene	gene with protein product		605102	mannan-binding lectin serine protease 2, mannan-binding lectin serine peptidase 1 pseudogene 1, mannan-binding lectin serine protease 1 pseudogene 1	MASP1P1	NA	9087411, 9777418	Standard	NM_006610	NM_006610	NA	Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.369C>T	1.37:g.11106656G>A		NA	A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	37	CCDS123.1																																																																																			MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006072.1		-	ENST00000400897.3	Silent	SNP	1 : 11106656 - 11106656 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	190	25
CEP350	9857	broad.mit.edu	37	1	179983348	179983348	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179983348A>G	ENST00000367607.3	+	10	2178	c.1760A>G	c.(1759-1761)aAa>aGa	p.K587R		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	587						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GTTATTTCCAAAAGGCGCCAC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	47	49			NA	NA	1		NA											NA				179983348		2203	4300	6503	SO:0001583	missense			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837	9857	9857			24238	protein-coding gene	gene with protein product	centrosome associated protein 350				NA	16314388, 15615782	Standard	NM_014810	NM_014810	NA	Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.1760A>G	1.37:g.179983348A>G	ENSP00000356579:p.Lys587Arg	NA	O75068|Q8TDK3|Q8WY20	37	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.761437	0.89932	.	.	ENSG00000135837	ENST00000367607	D	0.90197	-2.63	5.6	5.6	0.85130	.	0.000000	0.51477	D	0.000082	D	0.94850	0.8336	M	0.73598	2.24	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	D	0.94602	0.7797	9	.	.	.	.	15.7476	0.77958	1.0:0.0:0.0:0.0	.	587;587	E7EU22;Q5VT06	.;CE350_HUMAN	R	587	ENSP00000356579:K587R	.	K	+	2	0	CEP350	178249971	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.810000	0.75216	2.251000	0.74343	0.528000	0.53228	AAA	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085315.2		+	ENST00000367607.3	Missense_Mutation	SNP	1 : 179983348 - 179983348 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	79	20
FAM101A	144347	broad.mit.edu	37	12	124798970	124798970	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124798970C>T	ENST00000324038.3	+	3	550	c.307C>T	c.(307-309)Cac>Tac	p.H103Y	FAM101A_ENST00000338359.4_Missense_Mutation_p.H103Y|FAM101A_ENST00000546355.1_Missense_Mutation_p.H103Y|FAM101A_ENST00000389727.3_Missense_Mutation_p.H184Y	NM_181709.4	NP_859060.3	Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	184										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		GACCACCCTGCACTGCAGCCT	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	41	41			NA	NA	12		NA											NA				124798970		2203	4298	6501	SO:0001583	missense				CCDS9258.1	12q24.31	2012-11-30			ENSG00000178882	ENSG00000178882	144347	144347			27051	protein-coding gene	gene with protein product		615927			NA	12477932	Standard	NM_181709	NM_181709	NA	Approved	FLJ44614	uc001ugd.2	Q6ZTI6	OTTHUMG00000168609	ENST00000324038.3:c.307C>T	12.37:g.124798970C>T	ENSP00000315626:p.His103Tyr	NA	A5D8T5	37	CCDS9258.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700828	0.48307	.	.	ENSG00000178882	ENST00000324038;ENST00000389727;ENST00000546355;ENST00000338359	.	.	.	4.7	3.81	0.43845	.	0.461107	0.23924	N	0.043209	T	0.32194	0.0821	L	0.36672	1.1	0.30418	N	0.778351	P	0.40731	0.728	B	0.40825	0.341	T	0.34153	-0.9840	9	0.62326	D	0.03	-17.4896	6.5299	0.22322	0.309:0.5978:0.0:0.0931	.	184	Q6ZTI6	F101A_HUMAN	Y	103;184;103;103	.	ENSP00000315626:H103Y	H	+	1	0	FAM101A	123364923	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	5.132000	0.64758	0.966000	0.38159	0.561000	0.74099	CAC	FAM101A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400391.1		+	ENST00000324038.3	Missense_Mutation	SNP	12 : 124798970 - 124798970 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	422	90
TXNRD3NB	645840	broad.mit.edu	37	3	126290881	126290881	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126290881G>A	ENST00000404489.2	-	2	488	c.396C>T	c.(394-396)agC>agT	p.S132S	TXNRD3NB_ENST00000383572.2_Silent_p.S132S			Q6F5E7	TR3N_HUMAN	thioredoxin reductase 3 neighbor	132										endometrium(1)|large_intestine(2)|skin(2)	5						gagatcatccgctgatacctg	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													242	219	227			NA	NA	3		NA											NA				126290881		2203	4300	6503	SO:0001819	synonymous_variant			BC130546	CCDS33846.1	3q21.3	2011-04-13	2011-04-13	2011-04-13	ENSG00000206483	ENSG00000206483	645840	645840			33870	protein-coding gene	gene with protein product	thioredoxin reductase 3 new transcript 1		thioredoxin reductase 3 intronic transcript 1	TXNRD3IT1	NA	15674732	Standard	NM_001039783	NM_001039783	NA	Approved	TR2IT1, TXNRD3NT1	uc003ejc.3	Q6F5E7	OTTHUMG00000162732	ENST00000404489.2:c.396C>T	3.37:g.126290881G>A		NA		37	CCDS33846.1																																																																																			TXNRD3NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370233.2		-	ENST00000404489.2	Silent	SNP	3 : 126290881 - 126290881 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	641	125
CNTN1	1272	broad.mit.edu	37	12	41333262	41333262	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41333262A>G	ENST00000551295.2	+	12	1471	c.1354A>G	c.(1354-1356)Aca>Gca	p.T452A	CNTN1_ENST00000547702.1_Missense_Mutation_p.T452A|CNTN1_ENST00000348761.2_Missense_Mutation_p.T441A|CNTN1_ENST00000547849.1_Missense_Mutation_p.T452A|CNTN1_ENST00000347616.1_Missense_Mutation_p.T452A|CNTN1_ENST00000360099.3_Missense_Mutation_p.T452A	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	452	Ig-like C2-type 5.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GAGTAAAGGGACAGAGTGGCT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	74	74			NA	NA	12		NA											NA				41333262		2203	4300	6503	SO:0001583	missense			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236	1272	1272		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing, Endogenous ligands	2171	protein-coding gene	gene with protein product	glycoprotein gP135	600016			NA	7959734, 8586965	Standard	NM_001843	NM_001843	NA	Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1354A>G	12.37:g.41333262A>G	ENSP00000447006:p.Thr452Ala	NA	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	37	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.244033	0.39697	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58	4.98	4.98	0.66077	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.27559	0.0677	L	0.33189	0.99	0.46167	D	0.998905	B;P;P	0.45396	0.184;0.828;0.857	B;P;P	0.48982	0.101;0.462;0.597	T	0.02966	-1.1088	10	0.08837	T	0.75	.	10.6344	0.45556	0.9235:0.0:0.0765:0.0	.	452;441;452	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	A	452;452;452;452;452;441	ENSP00000448004:T452A;ENSP00000447006:T452A;ENSP00000448653:T452A;ENSP00000325660:T452A;ENSP00000353213:T452A;ENSP00000261160:T441A	ENSP00000325660:T452A	T	+	1	0	CNTN1	39619529	1.000000	0.71417	0.986000	0.45419	0.939000	0.58152	5.584000	0.67490	2.172000	0.68678	0.459000	0.35465	ACA	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403692.2		+	ENST00000551295.2	Missense_Mutation	SNP	12 : 41333262 - 41333262 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	304	51
SLC27A4	10999	broad.mit.edu	37	9	131107824	131107824	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131107824C>A	ENST00000300456.4	+	3	669	c.552C>A	c.(550-552)gcC>gcA	p.A184A	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	NA					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						GCGAAATGGCCTCAGGTGAGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(107;1554 2241 10946 12953)							NA				0													13	16	15			NA	NA	9		NA											NA				131107824		2197	4282	6479	SO:0001819	synonymous_variant			AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114	10999	10999		Acyl-CoA synthetase family, Solute carriers	10998	protein-coding gene	gene with protein product		604194			NA	9878842	Standard		NM_005094	NA	Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.552C>A	9.37:g.131107824C>A		NA	A8K2F7|O95186	37	CCDS6899.1																																																																																			SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054432.2		+	ENST00000300456.4	Silent	SNP	9 : 131107824 - 131107824 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	92	15
CCDC88C	440193	broad.mit.edu	37	14	91749816	91749816	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91749816C>A	ENST00000389857.6	-	26	4573	c.4487G>T	c.(4486-4488)aGc>aTc	p.S1496I	CCDC88C_ENST00000331194.7_Missense_Mutation_p.S20I	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1496					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GCGGTCAAGGCTGCCTCTGTG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	52	51			NA	NA	14		NA											NA				91749816		2053	4177	6230	SO:0001583	missense				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133	440193	440193			19967	protein-coding gene	gene with protein product	Dvl-associating protein with a high frequency of leucine residues, spinocerebellar ataxia 40	611204	KIAA1509	KIAA1509	NA	17185515, 25062847	Standard	XM_029353	NM_001080414	NA	Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.4487G>T	14.37:g.91749816C>A	ENSP00000374507:p.Ser1496Ile	NA	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	37	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823460	0.32237	.	.	ENSG00000015133	ENST00000389857;ENST00000427583;ENST00000331194	T;T	0.55930	1.95;0.49	5.67	4.77	0.60923	.	0.656995	0.13910	U	0.354299	T	0.58452	0.2123	M	0.64997	1.995	0.32828	D	0.503644	P;P	0.49783	0.716;0.928	B;P	0.46253	0.312;0.509	T	0.70510	-0.4852	10	0.72032	D	0.01	-15.6755	15.2156	0.73264	0.0:0.8605:0.1395:0.0	.	1496;20	Q9P219;Q9P219-2	DAPLE_HUMAN;.	I	1496;20;20	ENSP00000374507:S1496I;ENSP00000330332:S20I	ENSP00000330332:S20I	S	-	2	0	CCDC88C	90819569	1.000000	0.71417	0.768000	0.31515	0.040000	0.13550	2.576000	0.46033	1.377000	0.46286	0.655000	0.94253	AGC	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411650.1		-	ENST00000389857.6	Missense_Mutation	SNP	14 : 91749816 - 91749816 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	141	11
SMC4	10051	broad.mit.edu	37	3	160149468	160149468	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160149468C>A	ENST00000357388.3	+	21	3603	c.3152C>A	c.(3151-3153)cCt>cAt	p.P1051H	SMC4_ENST00000469762.1_Missense_Mutation_p.P1026H|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.P993H|SMC4_ENST00000344722.5_Missense_Mutation_p.P1051H|SMC4_ENST00000360111.2_Missense_Mutation_p.P993H	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1051					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GAAGATAATCCTATTGAAGAG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	51	49			NA	NA	3		NA											NA				160149468		2202	4300	6502	SO:0001583	missense			AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810	10051	10051		Structural maintenance of chromosomes proteins	14013	protein-coding gene	gene with protein product		605575	SMC4 (structural maintenance of chromosomes 4, yeast)-like 1, SMC4 structural maintenance of chromosomes 4-like 1 (yeast)	SMC4L1	NA	9789013, 10319587	Standard		NM_005496	NA	Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.3152C>A	3.37:g.160149468C>A	ENSP00000349961:p.Pro1051His	NA	A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	37	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013696	0.54468	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	T;T;T;T;T	0.77620	-0.84;-1.11;-0.83;-1.11;-0.84	6.06	5.18	0.71444	RecF/RecN/SMC (1);	0.091308	0.85682	N	0.000000	T	0.74496	0.3724	L	0.58510	1.815	0.53688	D	0.99997	B;B;B;B	0.10296	0.001;0.001;0.002;0.003	B;B;B;B	0.18871	0.004;0.012;0.016;0.023	T	0.69316	-0.5177	10	0.28530	T	0.3	-6.5535	15.0777	0.72090	0.2585:0.7415:0.0:0.0	.	993;1026;1026;1051	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	H	1051;993;1026;993;1051;645	ENSP00000349961:P1051H;ENSP00000353225:P993H;ENSP00000417964:P1026H;ENSP00000420734:P993H;ENSP00000341382:P1051H	ENSP00000341382:P1051H	P	+	2	0	SMC4	161632162	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.637000	0.54324	1.554000	0.49487	0.655000	0.94253	CCT	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352862.1		+	ENST00000357388.3	Missense_Mutation	SNP	3 : 160149468 - 160149468 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	223	43
PSG8	440533	broad.mit.edu	37	19	43259290	43259290	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43259290G>A	ENST00000404209.4	-	4	934	c.838C>T	c.(838-840)Ctc>Ttc	p.L280F	PSG8_ENST00000406636.3_Missense_Mutation_p.L158F|PSG8_ENST00000306511.4_Missense_Mutation_p.L280F|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.L187F	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	280	Ig-like C2-type 2.					extracellular region		p.L280I(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CTGACCGGGAGGCTCTGACCA	0.448		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)											73	79	77			NA	NA	19		NA											NA				43259290		2202	4280	6482	SO:0001583	missense			M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467	NA	440533		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	9525	protein-coding gene	gene with protein product		176397			NA	1672663, 1572651	Standard		NM_182707	NA	Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000404209.4:c.838C>T	19.37:g.43259290G>A	ENSP00000385869:p.Leu280Phe	NA	B2RPL4|B4DTI6|O60410|Q68CR6	37	CCDS46091.1	.	.	.	.	.	.	.	.	.	.	N	9.445	1.089014	0.20390	.	.	ENSG00000124467	ENST00000404209;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	T;T;T;T	0.16457	2.34;2.34;2.34;2.34	1.26	0.133	0.14766	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.43875	0.1267	M	0.93550	3.43	0.09310	N	1	D;D;D;D;P;P	0.89917	0.997;1.0;1.0;0.999;0.482;0.538	D;D;D;D;B;P	0.97110	0.977;1.0;0.997;0.997;0.333;0.464	T	0.19289	-1.0310	9	0.62326	D	0.03	.	3.0739	0.06240	0.3293:0.0:0.6706:0.0	.	158;187;280;187;280;280	Q9UQ74-2;B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;.;PSG8_HUMAN;.;.;.	F	280;158;187;92;187;280	ENSP00000385869:L280F;ENSP00000385081:L158F;ENSP00000386090:L187F;ENSP00000305005:L280F	ENSP00000305005:L280F	L	-	1	0	PSG8	47951130	0.018000	0.18449	0.187000	0.23214	0.061000	0.15899	0.421000	0.21280	0.653000	0.30826	0.298000	0.19748	CTC	PSG8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321407.3		-	ENST00000404209.4	Missense_Mutation	SNP	19 : 43259290 - 43259290 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2180	271
NYNRIN	57523	broad.mit.edu	37	14	24886379	24886379	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24886379G>A	ENST00000382554.3	+	9	5742	c.5424G>A	c.(5422-5424)gcG>gcA	p.A1808A		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1808					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTGACAAGGCGAGTGAAAAGG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	80	78			NA	NA	14		NA											NA				24886379		2041	4193	6234	SO:0001819	synonymous_variant			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978	57523	57523			20165	protein-coding gene	gene with protein product	Cousin of GIN1		KIAA1305	KIAA1305	NA	19561090, 17114934	Standard		NM_025081	NA	Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.5424G>A	14.37:g.24886379G>A		NA	Q6P153|Q86TR3|Q9HAC4	37	CCDS45090.1																																																																																			NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412939.1		+	ENST00000382554.3	Silent	SNP	14 : 24886379 - 24886379 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	467	72
TICRR	90381	broad.mit.edu	37	15	90167585	90167585	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90167585C>T	ENST00000268138.7	+	20	4149	c.4044C>T	c.(4042-4044)agC>agT	p.S1348S	TICRR_ENST00000560985.1_Silent_p.S1347S|KIF7_ENST00000558928.1_Intron					TOPBP1-interacting checkpoint and replication regulator	NA											NA						TGTCACCCAGCGTAGCTGCAT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	111	110			NA	NA	15		NA											NA				90167585		2200	4299	6499	SO:0001819	synonymous_variant			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534	90381	90381			28704	protein-coding gene	gene with protein product	TOPBP1-interacting replication-stimulating protein, SLD3 homolog (S. cerevisiae)	613298	chromosome 15 open reading frame 42	C15orf42	NA	20116089, 20080954	Standard	NM_152259	NM_152259	NA	Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.4044C>T	15.37:g.90167585C>T		NA		37	CCDS10352.2																																																																																			TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000312856.1		+	ENST00000268138.7	Silent	SNP	15 : 90167585 - 90167585 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	925	185
AK9	221264	broad.mit.edu	37	6	109850265	109850265	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109850265A>G	ENST00000355283.1	-	5	1065	c.819T>C	c.(817-819)atT>atC	p.I273I	AK9_ENST00000341338.6_Silent_p.I273I|AK9_ENST00000424296.2_Silent_p.I1194I					adenylate kinase 9	NA											NA						TTCTTTTAGCAATCGTATCAA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	80	81			NA	NA	6		NA											NA				109850265		2202	4300	6502	SO:0001819	synonymous_variant			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			221264	221264	2.7.4.3		33814	protein-coding gene	gene with protein product		615358	chromosome 6 open reading frame 224, adenylate kinase domain containing 2, chromosome 6 open reading frame 199, adenylate kinase domain containing 1	C6orf224, AKD2, C6orf199, AKD1	NA	23416111	Standard	NM_001145128	NM_145025	NA	Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000355283.1:c.819T>C	6.37:g.109850265A>G		NA		37		.	.	.	.	.	.	.	.	.	.	A	5.712	0.315939	0.10789	.	.	ENSG00000155085	ENST00000470564;ENST00000491875	.	.	.	3.99	1.55	0.23275	.	.	.	.	.	T	0.29126	0.0724	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.14090	-1.0485	4	.	.	.	.	3.4152	0.07373	0.6346:0.0:0.1966:0.1688	.	.	.	.	S	32;129	.	.	L	-	2	0	AKD1	109956958	0.991000	0.36638	0.970000	0.41538	0.509000	0.34042	1.034000	0.30204	0.143000	0.18926	0.533000	0.62120	TTG	AK9-001	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000349355.1		-	ENST00000355283.1	Silent	SNP	6 : 109850265 - 109850265 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	388	18
ZNF395	55893	broad.mit.edu	37	8	28217156	28217156	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28217156C>A	ENST00000344423.5	-	3	557	c.426G>T	c.(424-426)caG>caT	p.Q142H	ZNF395_ENST00000523095.1_Missense_Mutation_p.Q142H|ZNF395_ENST00000523202.1_Missense_Mutation_p.Q142H	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	142					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		AGGCCAGGGCCTGGGCTCCGG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	55	52			NA	NA	8		NA											NA				28217156		2203	4300	6503	SO:0001583	missense			AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918	55893	55893		Zinc fingers, C2H2-type	18737	protein-coding gene	gene with protein product		609494			NA	14625278	Standard		NM_018660	NA	Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.426G>T	8.37:g.28217156C>A	ENSP00000340494:p.Gln142His	NA	B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	37	CCDS6067.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460047	0.43736	.	.	ENSG00000186918	ENST00000344423;ENST00000523202;ENST00000523095;ENST00000521912;ENST00000520290	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	5.4	3.45	0.39498	.	0.582668	0.16352	N	0.218191	T	0.77287	0.4108	L	0.43152	1.355	0.09310	N	0.99999	D	0.54964	0.969	P	0.47162	0.54	T	0.66504	-0.5907	10	0.30078	T	0.28	-14.5634	7.2882	0.26352	0.2026:0.6261:0.1713:0.0	.	142	Q9H8N7	ZN395_HUMAN	H	142	ENSP00000340494:Q142H;ENSP00000429640:Q142H;ENSP00000428452:Q142H;ENSP00000427934:Q142H	ENSP00000340494:Q142H	Q	-	3	2	ZNF395	28273075	0.020000	0.18652	0.622000	0.29159	0.657000	0.38888	0.781000	0.26774	2.537000	0.85549	0.555000	0.69702	CAG	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219976.1		-	ENST00000344423.5	Missense_Mutation	SNP	8 : 28217156 - 28217156 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	728	160
EDC4	23644	broad.mit.edu	37	16	67914671	67914671	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67914671C>T	ENST00000358933.5	+	18	2548	c.2309C>T	c.(2308-2310)gCt>gTt	p.A770V		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	770					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GACAGTATGGCTTCAGCCGCC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	95	96			NA	NA	16		NA											NA				67914671		2198	4300	6498	SO:0001583	missense			U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358	23644	23644			17157	protein-coding gene	gene with protein product		606030			NA	9067524	Standard	NM_014329	NM_014329	NA	Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.2309C>T	16.37:g.67914671C>T	ENSP00000351811:p.Ala770Val	NA	A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	37	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	C	33	5.238363	0.95240	.	.	ENSG00000038358	ENST00000358933	.	.	.	5.47	5.47	0.80525	.	0.100889	0.64402	D	0.000002	T	0.49423	0.1556	L	0.29908	0.895	0.48395	D	0.999648	D	0.56968	0.978	P	0.50825	0.651	T	0.36744	-0.9735	9	0.25751	T	0.34	-15.198	14.5219	0.67856	0.0:0.8534:0.1466:0.0	.	770	Q6P2E9	EDC4_HUMAN	V	770	.	ENSP00000351811:A770V	A	+	2	0	EDC4	66472172	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.921000	0.70028	2.560000	0.86352	0.591000	0.81541	GCT	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268874.2		+	ENST00000358933.5	Missense_Mutation	SNP	16 : 67914671 - 67914671 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	992	198
PNRC1	10957	broad.mit.edu	37	6	89790706	89790706	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:89790706C>T	ENST00000336032.3	+	1	210	c.93C>T	c.(91-93)gcC>gcT	p.A31A	PNRC1_ENST00000369472.1_Intron	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	31					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		ACTTTGGGGCCCTCCCGATGG	0.677		NA								Multiple Myeloma(7;0.094)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	47	46			NA	NA	6		NA											NA				89790706		2203	4300	6503	SO:0001819	synonymous_variant			U03105	CCDS5018.1	6q16.1	2008-02-05	2003-09-25	2003-09-26	ENSG00000146278	ENSG00000146278	10957	10957			17278	protein-coding gene	gene with protein product		606714	proline rich 2	PROL2	NA	7578250	Standard	NM_006813	NM_006813	NA	Approved	B4-2, PRR2	uc003pmv.3	Q12796	OTTHUMG00000015191	ENST00000336032.3:c.93C>T	6.37:g.89790706C>T		NA	B2R6Q0|E1P515|Q5T7J6	37	CCDS5018.1																																																																																			PNRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041471.1		+	ENST00000336032.3	Silent	SNP	6 : 89790706 - 89790706 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	394	76
OR10X1	128367	broad.mit.edu	37	1	158548816	158548816	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158548816T>C	ENST00000368150.1	-	1	873	c.874A>G	c.(874-876)Act>Gct	p.T292A		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GTAATGACAGTATAAGGGACT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	111	110			NA	NA	1		NA											NA				158548816		2203	4300	6503	SO:0001583	missense			BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400	128367	128367		GPCR / Class A : Olfactory receptors	14995	protein-coding gene	gene with protein product			olfactory receptor, family 10, subfamily X, member 1	OR10X1P	NA		Standard	NM_001004477	NM_001004477	NA	Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.874A>G	1.37:g.158548816T>C	ENSP00000357132:p.Thr292Ala	NA	Q6IFR8	37	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	T	17.56	3.419284	0.62622	.	.	ENSG00000186400	ENST00000368150	T	0.00235	8.48	4.5	4.5	0.54988	.	0.000000	0.50627	D	0.000119	T	0.00241	0.0007	M	0.66297	2.02	0.27388	N	0.955216	D	0.76494	0.999	D	0.87578	0.998	T	0.50363	-0.8837	10	0.48119	T	0.1	.	13.2141	0.59849	0.0:0.0:0.0:1.0	.	292	Q8NGY0	O10X1_HUMAN	A	292	ENSP00000357132:T292A	ENSP00000357132:T292A	T	-	1	0	OR10X1	156815440	0.999000	0.42202	0.879000	0.34478	0.978000	0.69477	1.571000	0.36450	2.001000	0.58596	0.460000	0.39030	ACT	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051850.2		-	ENST00000368150.1	Missense_Mutation	SNP	1 : 158548816 - 158548816 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	786	28
OLIG3	167826	broad.mit.edu	37	6	137814750	137814750	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137814750G>A	ENST00000367734.2	-	1	781	c.558C>T	c.(556-558)ggC>ggT	p.G186G		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		AGAGCGCGCCGCCCAAGATGG	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	18	17			NA	NA	6		NA											NA				137814750		2195	4285	6480	SO:0001819	synonymous_variant			AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468	167826	167826		Basic helix-loop-helix proteins	18003	protein-coding gene	gene with protein product		609323			NA		Standard	NM_175747	NM_175747	NA	Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.558C>T	6.37:g.137814750G>A		NA	Q8N8Q0	37	CCDS5186.1																																																																																			OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042405.1		-	ENST00000367734.2	Silent	SNP	6 : 137814750 - 137814750 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	122	14
CACNA2D1	781	broad.mit.edu	37	7	81964505	81964505	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:81964505T>C	ENST00000423588.1	-	3	496	c.240A>G	c.(238-240)gaA>gaG	p.E80E	CACNA2D1_ENST00000356860.3_Silent_p.E80E|CACNA2D1_ENST00000356253.5_Silent_p.E80E			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	80						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TGGCTGCAATTTCTACCAGCT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													186	193	190			NA	NA	7		NA											NA				81964505		2203	4300	6503	SO:0001819	synonymous_variant			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956	781	781		Calcium channel subunits	1399	protein-coding gene	gene with protein product		114204	long intergenic non-protein coding RNA 1112	CACNL2A, CACNA2, MHS3, LINC01112	NA	8188232	Standard		XM_005250570	NA	Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000423588.1:c.240A>G	7.37:g.81964505T>C		NA	Q17R45|Q9UD80|Q9UD81|Q9UD82	37																																																																																				CACNA2D1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000336994.3		-	ENST00000423588.1	Silent	SNP	7 : 81964505 - 81964505 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1296	248
NAV3	89795	broad.mit.edu	37	12	78604210	78604210	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78604210C>A	ENST00000397909.2	+	40	7244	c.7071C>A	c.(7069-7071)gcC>gcA	p.A2357A	NAV3_ENST00000541270.1_Silent_p.A187A|NAV3_ENST00000228327.6_Silent_p.A2335A|NAV3_ENST00000536525.2_Silent_p.A2335A|NAV3_ENST00000266692.7_Silent_p.A2158A			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2357						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAGAAGCAGCCAATTACTCGA	0.418		NA								HNSCC(70;0.22)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	62	61			NA	NA	12		NA											NA				78604210		1955	4178	6133	SO:0001819	synonymous_variant			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798	89795	89795			15998	protein-coding gene	gene with protein product	pore membrane and/or filament interacting like protein 1, steerin 3	611629			NA	12079279, 12062803	Standard	NM_001024383	XM_005269215	NA	Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.7071C>A	12.37:g.78604210C>A		NA	Q8NFW7|Q9Y2E7	37		.	.	.	.	.	.	.	.	.	.	C	8.286	0.816605	0.16607	.	.	ENSG00000067798	ENST00000552895;ENST00000551162	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	T	0.75049	0.3797	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73678	-0.3907	4	.	.	.	-16.4759	19.0721	0.93143	0.0:1.0:0.0:0.0	.	.	.	.	K	1230;225	.	.	Q	+	1	0	NAV3	77128341	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.021000	0.30040	2.520000	0.84964	0.655000	0.94253	CAA	NAV3-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000406812.1		+	ENST00000397909.2	Silent	SNP	12 : 78604210 - 78604210 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	260	11
OGDH	4967	broad.mit.edu	37	7	44687259	44687259	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44687259C>T	ENST00000449767.1	+	4	595				OGDH_ENST00000443864.2_Nonsense_Mutation_p.R140*|OGDH_ENST00000444676.1_Nonsense_Mutation_p.R140*|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000447398.1_Intron|OGDH_ENST00000543843.1_Intron|OGDH_ENST00000222673.5_Nonsense_Mutation_p.R140*	NM_001165036.1	NP_001158508.1	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NA					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CTCATAGATACGAGGGCACCA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	90	91			NA	NA	7		NA											NA				44687259		2203	4300	6503	SO:0001627	intron_variant			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	4967	4967	1.2.4.2		8124	protein-coding gene	gene with protein product		613022			NA	8020988, 1542694	Standard		NM_002541	NA	Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000449767.1:c.505+126C>T	7.37:g.44687259C>T		NA	D3DVL0|Q9UDX0	37	CCDS55107.1	.	.	.	.	.	.	.	.	.	.	C	37	6.456488	0.97581	.	.	ENSG00000105953	ENST00000443864;ENST00000419661;ENST00000444676;ENST00000222673	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3707	20.4898	0.99202	0.0:1.0:0.0:0.0	.	.	.	.	X	140	.	ENSP00000222673:R140X	R	+	1	2	OGDH	44653784	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	CGA	OGDH-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339392.1		+	ENST00000449767.1	Intron	SNP	7 : 44687259 - 44687259 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	30
PCDH10	57575	broad.mit.edu	37	4	134084171	134084171	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134084171C>A	ENST00000264360.5	+	4	3663	c.2837C>A	c.(2836-2838)gCt>gAt	p.A946D		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	NA					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GAATGTAAAGCTCTGGGCCAC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	152	162			NA	NA	4		NA											NA				134084171		2203	4300	6503	SO:0001583	missense			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650	57575	57575		Cadherins / Protocadherins : Non-clustered	13404	protein-coding gene	gene with protein product		608286			NA	10835267	Standard	NM_032961	NM_020815	NA	Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2837C>A	4.37:g.134084171C>A	ENSP00000264360:p.Ala946Asp	NA	Q4W5F6	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889390	0.91889	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.53423	0.62	4.94	4.94	0.65067	.	0.000000	0.36268	N	0.002697	T	0.58821	0.2149	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.59726	-0.7400	10	0.51188	T	0.08	.	18.3154	0.90218	0.0:1.0:0.0:0.0	.	946	Q9P2E7	PCD10_HUMAN	D	946	ENSP00000264360:A946D	ENSP00000264360:A946D	A	+	2	0	PCDH10	134303621	1.000000	0.71417	0.959000	0.39883	0.921000	0.55340	7.278000	0.78587	2.717000	0.92951	0.650000	0.86243	GCT	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364457.2		+	ENST00000264360.5	Missense_Mutation	SNP	4 : 134084171 - 134084171 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	528	81
ZNF101	94039	broad.mit.edu	37	19	19790189	19790189	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19790189G>A	ENST00000592502.1	+	4	501	c.391G>A	c.(391-393)Gag>Aag	p.E131K	ZNF101_ENST00000415784.2_Missense_Mutation_p.E11K|ZNF101_ENST00000444249.2_3'UTR			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						CAAACGATCTGAGTGTGGTGG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	84	90			NA	NA	19		NA											NA				19790189		2203	4300	6503	SO:0001583	missense			AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896	94039	94039		Zinc fingers, C2H2-type, -	12881	protein-coding gene	gene with protein product		603983	zinc finger protein 101 (Y2)		NA	11441184	Standard	NM_033204	XM_005260165	NA	Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.391G>A	19.37:g.19790189G>A	ENSP00000468049:p.Glu131Lys	NA		37	CCDS32971.1	.	.	.	.	.	.	.	.	.	.	G	8.265	0.812048	0.16537	.	.	ENSG00000181896	ENST00000318110;ENST00000415440;ENST00000415784	T;T	0.14266	2.52;3.36	0.235	0.235	0.15431	.	.	.	.	.	T	0.05777	0.0151	N	0.08118	0	0.09310	N	1	B	0.31548	0.328	B	0.27262	0.078	T	0.38972	-0.9636	9	0.33141	T	0.24	.	6.2532	0.20859	3.0E-4:0.0:0.9997:0.0	.	131	Q8IZC7	ZN101_HUMAN	K	131;131;11	ENSP00000319716:E131K;ENSP00000400952:E11K	ENSP00000319716:E131K	E	+	1	0	ZNF101	19651189	0.000000	0.05858	0.013000	0.15412	0.013000	0.08279	-3.770000	0.00371	0.308000	0.22923	0.313000	0.20887	GAG	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460559.1		+	ENST00000592502.1	Missense_Mutation	SNP	19 : 19790189 - 19790189 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	441	32
ACSF3	197322	broad.mit.edu	37	16	89167319	89167319	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89167319G>A	ENST00000378345.4	+	2	95				ACSF3_ENST00000406948.3_Missense_Mutation_p.R77H|ACSF3_ENST00000317447.4_Missense_Mutation_p.R77H			Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	NA					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		CGCAGCCTTCGCCTGTCCCAG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	40	39			NA	NA	16		NA											NA				89167319		2198	4300	6498	SO:0001627	intron_variant			AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715	197322	197322		Acyl-CoA synthetase family	27288	protein-coding gene	gene with protein product	malonyl-CoA synthetase	614245			NA	17762044, 21846720	Standard	NM_174917	XM_005256293	NA	Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000378345.4:c.-129-1693G>A	16.37:g.89167319G>A		NA	A8K4J8|C9JQL6|Q6INA0|Q8N2F7	37		.	.	.	.	.	.	.	.	.	.	G	8.880	0.951502	0.18431	.	.	ENSG00000176715	ENST00000317447;ENST00000537290;ENST00000406948	T;T;T	0.51071	0.72;0.72;0.72	5.27	2.27	0.28462	AMP-dependent synthetase/ligase (1);	0.754413	0.13650	N	0.372372	T	0.49253	0.1546	M	0.87682	2.9	0.09310	N	1	B	0.22983	0.078	B	0.21546	0.035	T	0.49808	-0.8900	10	0.49607	T	0.09	-11.1186	5.0448	0.14477	0.3073:0.1421:0.5507:0.0	.	77	Q4G176	ACSF3_HUMAN	H	77	ENSP00000320646:R77H;ENSP00000440734:R77H;ENSP00000384627:R77H	ENSP00000320646:R77H	R	+	2	0	ACSF3	87694820	0.002000	0.14202	0.222000	0.23844	0.268000	0.26511	1.032000	0.30178	0.235000	0.21160	0.655000	0.94253	CGC	ACSF3-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000395755.1		+	ENST00000378345.4	Intron	SNP	16 : 89167319 - 89167319 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	312	57
DUSP12	11266	broad.mit.edu	37	1	161721475	161721475	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161721475G>A	ENST00000367943.4	+	2	394	c.362G>A	c.(361-363)cGa>cAa	p.R121Q		NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	121	Tyrosine-protein phosphatase.				positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GGAGTCAGTCGAAGTGTGGCC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	133	132			NA	NA	1		NA											NA				161721475		2203	4300	6503	SO:0001583	missense			AF119226	CCDS1234.1	1q21-q22	2011-06-09			ENSG00000081721	ENSG00000081721	11266	11266		Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases	3067	protein-coding gene	gene with protein product	serine/threonine specific protein phosphatase, YVH1 protein-tyrosine phosphatase (S. cerevisiae) ortholog	604835			NA	10446167	Standard	NM_007240	XM_005244862	NA	Approved	YVH1, DUSP1	uc001gbo.3	Q9UNI6	OTTHUMG00000034540	ENST00000367943.4:c.362G>A	1.37:g.161721475G>A	ENSP00000356920:p.Arg121Gln	NA	Q5VXA8	37	CCDS1234.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300539	0.81136	.	.	ENSG00000081721	ENST00000367943	D	0.98345	-4.88	5.04	5.04	0.67666	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.99414	0.9793	H	0.97918	4.105	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.98383	1.0559	9	0.87932	D	0	.	16.2929	0.82759	0.0:0.0:1.0:0.0	.	121	Q9UNI6	DUS12_HUMAN	Q	121	ENSP00000356920:R121Q	ENSP00000356920:R121Q	R	+	2	0	DUSP12	159988099	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	7.939000	0.87685	2.504000	0.84457	0.479000	0.44913	CGA	DUSP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083588.1		+	ENST00000367943.4	Missense_Mutation	SNP	1 : 161721475 - 161721475 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	820	142
C16orf59	80178	broad.mit.edu	37	16	2510970	2510970	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2510970C>T	ENST00000569496.1	+	4	409	c.350C>T	c.(349-351)aCg>aTg	p.T117M	C16orf59_ENST00000483320.1_5'UTR|C16orf59_ENST00000563531.1_Missense_Mutation_p.T117M|C16orf59_ENST00000361837.4_Missense_Mutation_p.T117M			Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	117										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				TCTTCTGGCACGACAGCCTCC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	69	66			NA	NA	16		NA											NA				2510970		2081	4207	6288	SO:0001583	missense			AK023971	CCDS10468.2	16p13.3	2008-10-30			ENSG00000162062	ENSG00000162062	80178	80178			25849	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_025108	XM_006720955	NA	Approved	FLJ13909	uc002cqh.3	Q7L2K0	OTTHUMG00000128859	ENST00000569496.1:c.350C>T	16.37:g.2510970C>T	ENSP00000454787:p.Thr117Met	NA	B4DXD7|Q96H61|Q9H872	37		.	.	.	.	.	.	.	.	.	.	C	14.49	2.550521	0.45383	.	.	ENSG00000162062	ENST00000361837	T	0.47528	0.84	3.97	-0.205	0.13196	.	0.621363	0.11903	U	0.518417	T	0.32496	0.0831	L	0.54323	1.7	0.09310	N	0.999999	P	0.37398	0.593	B	0.27715	0.082	T	0.25012	-1.0144	10	0.72032	D	0.01	-0.6322	3.1424	0.06460	0.1875:0.5022:0.0:0.3103	.	117	Q7L2K0	CP059_HUMAN	M	117	ENSP00000355022:T117M	ENSP00000355022:T117M	T	+	2	0	C16orf59	2450971	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.089000	0.15002	0.004000	0.14682	-0.793000	0.03317	ACG	C16orf59-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000435625.1		+	ENST00000569496.1	Missense_Mutation	SNP	16 : 2510970 - 2510970 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	401	86
LRWD1	222229	broad.mit.edu	37	7	102107909	102107909	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102107909G>A	ENST00000292616.5	+	4	708	c.556G>A	c.(556-558)Gag>Aag	p.E186K		NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	186					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GTCCCTCAGCGAGTTCACCCA	0.622		NA									OREG0018231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	56	57			NA	NA	7		NA											NA				102107909		2203	4300	6503	SO:0001583	missense			AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036	222229	222229		WD repeat domain containing	21769	protein-coding gene	gene with protein product	origin recognition complex associated, centromere protein 33	615167			NA	20932478, 20850016, 20180869	Standard	NM_152892	NM_152892	NA	Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.556G>A	7.37:g.102107909G>A	ENSP00000292616:p.Glu186Lys	1364	A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	37	CCDS34715.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763152	0.89932	.	.	ENSG00000161036	ENST00000292616	T	0.61980	0.06	4.87	4.87	0.63330	.	0.283914	0.39210	N	0.001421	T	0.49915	0.1585	L	0.50333	1.59	0.58432	D	0.999998	P	0.49358	0.923	B	0.31869	0.137	T	0.54807	-0.8238	10	0.29301	T	0.29	-13.4247	15.3252	0.74154	0.0:0.0:1.0:0.0	.	186	Q9UFC0	LRWD1_HUMAN	K	186	ENSP00000292616:E186K	ENSP00000292616:E186K	E	+	1	0	LRWD1	101894914	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.608000	0.82898	2.527000	0.85204	0.462000	0.41574	GAG	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349493.1		+	ENST00000292616.5	Missense_Mutation	SNP	7 : 102107909 - 102107909 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	241	43
FCGBP	8857	broad.mit.edu	37	19	40433216	40433216	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40433216T>C	ENST00000221347.6	-	2	1060	c.1053A>G	c.(1051-1053)gtA>gtG	p.V351V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	351	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACAGCCTGGTACACTCTTGA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	59	64			NA	NA	19		NA											NA				40433216		2203	4300	6503	SO:0001819	synonymous_variant			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395	8857	8857			13572	protein-coding gene	gene with protein product	IgG Fc binding protein, Human Fc gamma BP				NA	9182547	Standard	NM_003890	NM_003890	NA	Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.1053A>G	19.37:g.40433216T>C		NA	O95784	37	CCDS12546.1																																																																																			FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462507.1		-	ENST00000221347.6	Silent	SNP	19 : 40433216 - 40433216 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	260	37
UNC5C	8633	broad.mit.edu	37	4	96163599	96163599	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96163599A>C	ENST00000506749.1	-	7	1437	c.1089T>G	c.(1087-1089)acT>acG	p.T363T	UNC5C_ENST00000453304.1_Silent_p.T363T			O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	363	TSP type-1 2.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AAAGCCCATCAGTGCAGTTCT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	55	58			NA	NA	4		NA											NA				96163599		2203	4300	6503	SO:0001819	synonymous_variant			AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168	8633	8633		Immunoglobulin superfamily / I-set domain containing	12569	protein-coding gene	gene with protein product		603610	unc5 (C.elegans homolog) c		NA	9126742, 9782087	Standard	NM_003728	NM_003728	NA	Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000506749.1:c.1089T>G	4.37:g.96163599A>C		NA	Q8IUT0	37																																																																																				UNC5C-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000363048.2		-	ENST00000506749.1	Silent	SNP	4 : 96163599 - 96163599 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	233	56
KCNIP3	30818	broad.mit.edu	37	2	96012774	96012774	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96012774A>G	ENST00000468529.1	+	1	299	c.7A>G	c.(7-9)Atc>Gtc	p.I3V	KCNIP3_ENST00000360990.3_Intron|KCNIP3_ENST00000295225.5_Intron|KCNIP3_ENST00000377181.2_Intron	NM_001034914.1	NP_001030086.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	0					apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		TGCCATGGGCATCCAGGGCAT	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	52	56			NA	NA	2		NA											NA				96012774		2203	4300	6503	SO:0001583	missense			AF199599	CCDS2013.1, CCDS33245.1	2q21.1	2013-01-10	2006-02-11	2006-02-11	ENSG00000115041	ENSG00000115041	30818	30818		EF-hand domain containing	15523	protein-coding gene	gene with protein product		604662	calsenilin, presenilin-binding protein, EF hand transcription factor	CSEN	NA	9771752, 10078534	Standard	NM_013434	NM_013434	NA	Approved	DREAM, KCHIP3, calsenilin	uc002sup.3	Q9Y2W7	OTTHUMG00000130392	ENST00000468529.1:c.7A>G	2.37:g.96012774A>G	ENSP00000417499:p.Ile3Val	NA	Q3YAC3|Q53TJ5|Q96T40|Q9UJ84|Q9UJ85	37	CCDS33245.1	.	.	.	.	.	.	.	.	.	.	a	13.45	2.241350	0.39598	.	.	ENSG00000115041	ENST00000468529	T	0.69926	-0.44	3.04	3.04	0.35103	.	.	.	.	.	T	0.55417	0.1919	.	.	.	0.80722	D	1	B	0.15141	0.012	B	0.13407	0.009	T	0.56733	-0.7930	8	0.59425	D	0.04	.	9.4384	0.38653	1.0:0.0:0.0:0.0	.	3	Q9Y2W7-3	.	V	3	ENSP00000417499:I3V	ENSP00000417499:I3V	I	+	1	0	KCNIP3	95376501	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	4.265000	0.58865	1.366000	0.46076	0.241000	0.17934	ATC	KCNIP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000338590.1		+	ENST00000468529.1	Missense_Mutation	SNP	2 : 96012774 - 96012774 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	92	11
SH3RF3	344558	broad.mit.edu	37	2	109964294	109964294	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109964294C>T	ENST00000309415.6	+	2	738	c.738C>T	c.(736-738)agC>agT	p.S246S		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	246	SH3 1.						zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						TCCCAGCCAGCTATATCCAGT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	57	55			NA	NA	2		NA											NA				109964294		2134	4237	6371	SO:0001819	synonymous_variant			AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985	344558	344558		RING-type (C3HC4) zinc fingers	24699	protein-coding gene	gene with protein product			SH3 multiple domains 4	SH3MD4	NA	16374509	Standard	NM_001099289	XM_006712493	NA	Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.738C>T	2.37:g.109964294C>T		NA	A0SDZ7|A8MPR1|Q8NDU1	37																																																																																				SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding			+	ENST00000309415.6	Silent	SNP	2 : 109964294 - 109964294 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	171	53
MEX3B	84206	broad.mit.edu	37	15	82335561	82335561	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:82335561G>A	ENST00000329713.4	-	2	2085	c.1650C>T	c.(1648-1650)agC>agT	p.S550S	MEX3B_ENST00000558133.1_3'UTR	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	550					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						ACTCGGGCTCGCTCTTCTCAC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	55	55			NA	NA	15		NA											NA				82335561		2203	4300	6503	SO:0001819	synonymous_variant			AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496	84206	84206		RING-type (C3HC4) zinc fingers, Mex-3 homologs	25297	protein-coding gene	gene with protein product		611008	ring finger and KH domain containing 3, mex-3 homolog B (C. elegans)	RKHD3	NA	11230166, 17267406	Standard	XM_290645	NM_032246	NA	Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.1650C>T	15.37:g.82335561G>A		NA	Q4G0W1|Q8IVG2|Q9H0J0	37	CCDS10319.1																																																																																			MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000304000.1		-	ENST00000329713.4	Silent	SNP	15 : 82335561 - 82335561 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	505	21
BAAT	570	broad.mit.edu	37	9	104130535	104130535	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104130535C>T	ENST00000395051.3	-	2	606	c.536G>A	c.(535-537)aGc>aAc	p.S179N	BAAT_ENST00000259407.2_Missense_Mutation_p.S179N			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	179					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	GGCTAGGAGGCTGGCCCGAAA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	57	58			NA	NA	9		NA											NA				104130535		2203	4300	6503	SO:0001583	missense			L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	570	570	2.3.1.65		932	protein-coding gene	gene with protein product	glycine N-choloyltransferase	602938	bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase), bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)		NA		Standard		NM_001701	NA	Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.536G>A	9.37:g.104130535C>T	ENSP00000378491:p.Ser179Asn	NA	Q3B7W9|Q96L31	37	CCDS6752.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601316	0.46423	.	.	ENSG00000136881	ENST00000259407;ENST00000395051	T;T	0.42131	0.98;0.98	4.47	4.47	0.54385	.	0.075012	0.56097	D	0.000039	T	0.71091	0.3299	M	0.92738	3.34	0.34653	D	0.721905	D	0.89917	1.0	D	0.74348	0.983	D	0.84447	0.0586	10	0.87932	D	0	-14.1565	14.709	0.69215	0.0:1.0:0.0:0.0	.	179	Q14032	BAAT_HUMAN	N	179	ENSP00000259407:S179N;ENSP00000378491:S179N	ENSP00000259407:S179N	S	-	2	0	BAAT	103170356	0.041000	0.20044	0.970000	0.41538	0.167000	0.22549	3.001000	0.49488	2.328000	0.79073	0.561000	0.74099	AGC	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053433.1		-	ENST00000395051.3	Missense_Mutation	SNP	9 : 104130535 - 104130535 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	365	70
FASTKD3	79072	broad.mit.edu	37	5	7867281	7867281	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7867281G>T	ENST00000264669.5	-	2	1052	c.916C>A	c.(916-918)Ctt>Att	p.L306I	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	306					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTTTGATCAAGAACCACCAGG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	97	93			NA	NA	5		NA											NA				7867281		2203	4300	6503	SO:0001583	missense			AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279	79072	79072			28758	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024091	NM_024091	NA	Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.916C>A	5.37:g.7867281G>T	ENSP00000264669:p.Leu306Ile	NA	Q9BVD3	37	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548702	0.65311	.	.	ENSG00000124279	ENST00000264669	T	0.16897	2.31	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.44726	0.1307	M	0.78049	2.395	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.35895	-0.9770	10	0.42905	T	0.14	-24.8401	18.1841	0.89788	0.0:0.0:1.0:0.0	.	306	Q14CZ7	FAKD3_HUMAN	I	306	ENSP00000264669:L306I	ENSP00000264669:L306I	L	-	1	0	FASTKD3	7920281	1.000000	0.71417	0.169000	0.22859	0.634000	0.38068	7.015000	0.76387	2.506000	0.84524	0.655000	0.94253	CTT	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253673.1		-	ENST00000264669.5	Missense_Mutation	SNP	5 : 7867281 - 7867281 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	611	107
SHPRH	257218	broad.mit.edu	37	6	146214434	146214434	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146214434A>G	ENST00000367505.2	-	28	5055	c.4791T>C	c.(4789-4791)acT>acC	p.T1597T	SHPRH_ENST00000367503.3_Silent_p.T1601T|SHPRH_ENST00000438092.2_Silent_p.T1601T|SHPRH_ENST00000275233.7_Silent_p.T1597T			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1597	Helicase C-terminal.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		AGAGAACATGAGTTGCTTCAA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	93	94			NA	NA	6		NA											NA				146214434		1879	4102	5981	SO:0001819	synonymous_variant			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414	257218	257218		RING-type (C3HC4) zinc fingers	19336	protein-coding gene	gene with protein product		608048	SNF2 histone linker PHD RING helicase		NA	12837266	Standard	NM_173082	NM_001042683	NA	Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.4791T>C	6.37:g.146214434A>G		NA	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	37	CCDS43513.2																																																																																			SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042571.2		-	ENST00000367505.2	Silent	SNP	6 : 146214434 - 146214434 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	231	45
TUBAL3	79861	broad.mit.edu	37	10	5435806	5435806	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5435806T>G	ENST00000380419.3	-	4	1052	c.1015A>C	c.(1015-1017)Atc>Ctc	p.I339L	TUBAL3_ENST00000479328.1_Missense_Mutation_p.I299L	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	339					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						GTGGCTGCGATTGCTGCATTC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	87	90			NA	NA	10		NA											NA				5435806		2203	4300	6503	SO:0001583	missense			AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462	79861	79861		Tubulins	23534	protein-coding gene	gene with protein product					NA		Standard	NM_024803	NM_024803	NA	Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.1015A>C	10.37:g.5435806T>G	ENSP00000369784:p.Ile339Leu	NA	B4DKL2|Q4QQJ5|Q9H6Z0	37	CCDS7066.2	.	.	.	.	.	.	.	.	.	.	T	15.05	2.718580	0.48622	.	.	ENSG00000178462	ENST00000380419;ENST00000479328	T;T	0.81078	-1.45;-1.45	4.41	4.41	0.53225	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.53938	D	0.000045	D	0.89846	0.6833	M	0.83603	2.65	0.45307	D	0.998303	P;P	0.46784	0.884;0.766	D;D	0.79784	0.993;0.987	D	0.91185	0.4979	10	0.87932	D	0	.	13.1953	0.59734	0.0:0.0:0.0:1.0	.	299;339	A6NHL2-2;A6NHL2	.;TBAL3_HUMAN	L	339;299	ENSP00000369784:I339L;ENSP00000418799:I299L	ENSP00000369784:I339L	I	-	1	0	TUBAL3	5425806	1.000000	0.71417	0.199000	0.23439	0.008000	0.06430	7.851000	0.86920	1.949000	0.56562	0.528000	0.53228	ATC	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046548.2		-	ENST00000380419.3	Missense_Mutation	SNP	10 : 5435806 - 5435806 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	262	48
PKD1	5310	broad.mit.edu	37	16	2161761	2161761	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2161761C>T	ENST00000262304.4	-	15	3615	c.3407G>A	c.(3406-3408)gGc>gAc	p.G1136D	PKD1_ENST00000423118.1_Missense_Mutation_p.G1136D	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1136	PKD 6.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CACCAGGACGCCGTCACTCAC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	17	16			NA	NA	16		NA											NA				2161761		2172	4287	6459	SO:0001583	missense			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710	5310	5310		Voltage-gated ion channels / Transient receptor potential cation channels	9008	protein-coding gene	gene with protein product	polycystin 1, transient receptor potential cation channel, subfamily P, member 1	601313			NA		Standard		NM_001009944	NA	Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.3407G>A	16.37:g.2161761C>T	ENSP00000262304:p.Gly1136Asp	NA	Q15140|Q15141	37	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	c	8.145	0.786085	0.16189	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.67345	-0.26;-0.26	5.66	-5.54	0.02544	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (3);	1.816110	0.02356	N	0.076399	T	0.39682	0.1087	N	0.04508	-0.205	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.15052	0.004;0.012	T	0.35773	-0.9775	10	0.12103	T	0.63	.	8.7888	0.34837	0.0:0.1369:0.4152:0.4479	.	1136;1136	P98161-3;P98161	.;PKD1_HUMAN	D	1136;1136;851	ENSP00000262304:G1136D;ENSP00000399501:G1136D	ENSP00000262304:G1136D	G	-	2	0	PKD1	2101762	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.391000	0.02525	-1.110000	0.02992	-0.147000	0.13772	GGC	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341688.1		-	ENST00000262304.4	Missense_Mutation	SNP	16 : 2161761 - 2161761 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	102	22
BBX	56987	broad.mit.edu	37	3	107524307	107524307	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:107524307C>T	ENST00000416476.2	+	17	2040	c.1820C>T	c.(1819-1821)gCg>gTg	p.A607V	BBX_ENST00000325805.8_3'UTR|BBX_ENST00000406780.1_3'UTR|BBX_ENST00000402543.1_3'UTR|BBX_ENST00000415149.2_3'UTR			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			ACCAGTGAAGCGCCCTTTCAT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	92	93			NA	NA	3		NA											NA				107524307		2203	4300	6503	SO:0001583	missense			AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439	56987	56987			14422	protein-coding gene	gene with protein product	x 001 protein				NA	11680820	Standard	NM_020235	NM_001142568	NA	Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000416476.2:c.1820C>T	3.37:g.107524307C>T	ENSP00000403860:p.Ala607Val	NA	Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	37		.	.	.	.	.	.	.	.	.	.	C	16.19	3.052519	0.55218	.	.	ENSG00000114439	ENST00000416476	D	0.99005	-5.32	6.16	6.16	0.99307	.	.	.	.	.	D	0.99390	0.9785	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.99342	1.0912	8	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	607	A2RRM7	.	V	607	ENSP00000403860:A607V	ENSP00000403860:A607V	A	+	2	0	BBX	109006997	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.298000	0.51818	2.937000	0.99478	0.650000	0.86243	GCG	BBX-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000317819.1		+	ENST00000416476.2	Missense_Mutation	SNP	3 : 107524307 - 107524307 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	564	106
AGAP7	0	broad.mit.edu	37	10	51465483	51465483	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:51465483C>T	ENST00000374095.5	-	7	1098	c.973G>A	c.(973-975)Gcc>Acc	p.A325T		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		325	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						GCCAATGTGGCTAGGGATGGC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	158	150			NA	NA	10		NA											NA				51465483		2197	4297	6494	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000374095.5:c.973G>A	10.37:g.51465483C>T	ENSP00000363208:p.Ala325Thr	NA	A6NGH4	37	CCDS41524.1	.	.	.	.	.	.	.	.	.	.	.	13.99	2.400457	0.42613	.	.	ENSG00000204169	ENST00000374095	T	0.56776	0.44	.	.	.	Pleckstrin homology domain (3);	0.064498	0.64402	D	0.000011	T	0.65123	0.2661	M	0.79693	2.465	0.36548	D	0.871687	D	0.53462	0.96	D	0.63703	0.917	T	0.66520	-0.5903	9	0.51188	T	0.08	.	5.9763	0.19382	0.0:0.9994:0.0:6.0E-4	.	325	Q5VUJ5	AGAP7_HUMAN	T	325	ENSP00000363208:A325T	ENSP00000363208:A325T	A	-	1	0	AGAP7	51135489	0.967000	0.33354	0.011000	0.14972	0.011000	0.07611	2.985000	0.49362	0.172000	0.19760	0.175000	0.17021	GCC	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048033.1		-	ENST00000374095.5	Missense_Mutation	SNP	10 : 51465483 - 51465483 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1463	289
HEATR2	54919	broad.mit.edu	37	7	825229	825229	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:825229G>A	ENST00000403952.3	+	6	1455	c.782G>A	c.(781-783)cGc>cAc	p.R261H	HEATR2_ENST00000313147.5_Intron|HEATR2_ENST00000297440.6_Missense_Mutation_p.R836H			Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	836							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CACAAGCACCGCTCGGCCACC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	69	70			NA	NA	7		NA											NA				825229		2203	4300	6503	SO:0001583	missense			AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818	54919	54919			26013	protein-coding gene	gene with protein product		614864			NA	23040496	Standard	NM_017802	NM_017802	NA	Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000403952.3:c.782G>A	7.37:g.825229G>A	ENSP00000384884:p.Arg261His	NA	Q69YL1|Q96FI9|Q9NX75	37		.	.	.	.	.	.	.	.	.	.	G	24.0	4.487539	0.84854	.	.	ENSG00000164818	ENST00000297440;ENST00000537862;ENST00000403952	T;T	0.66460	0.27;-0.21	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.81692	0.4876	M	0.82056	2.57	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.945;0.99	T	0.82741	-0.0307	10	0.44086	T	0.13	-45.2734	15.4112	0.74923	0.0:0.0:1.0:0.0	.	836;261;582	Q86Y56;E9PGY2;F5H8D4	HEAT2_HUMAN;.;.	H	836;582;261	ENSP00000297440:R836H;ENSP00000384884:R261H	ENSP00000297440:R836H	R	+	2	0	HEATR2	791755	1.000000	0.71417	0.988000	0.46212	0.621000	0.37620	3.835000	0.55805	2.233000	0.73108	0.462000	0.41574	CGC	HEATR2-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000322546.1		+	ENST00000403952.3	Missense_Mutation	SNP	7 : 825229 - 825229 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	517	106
ZNF655	79027	broad.mit.edu	37	7	99170087	99170087	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99170087G>A	ENST00000424881.1	+	4	681	c.461G>A	c.(460-462)aGc>aAc	p.S154N	ZNF655_ENST00000394163.2_Missense_Mutation_p.S119N|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000493277.1_Missense_Mutation_p.S154N|ZNF655_ENST00000252713.4_Missense_Mutation_p.S119N|GS1-259H13.10_ENST00000455905.1_Intron|GS1-259H13.10_ENST00000486324.1_Intron	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	119					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					ATAACAATCAGCAAGGAAACC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	77	78			NA	NA	7		NA											NA				99170087		2203	4300	6503	SO:0001583	missense			AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343	79027	79027		Zinc fingers, C2H2-type, -	30899	protein-coding gene	gene with protein product					NA	11179890, 15558030	Standard	NM_138494	NM_001083956	NA	Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000424881.1:c.461G>A	7.37:g.99170087G>A	ENSP00000393876:p.Ser154Asn	NA	A4D291|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	37	CCDS47655.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.584003	0.28268	.	.	ENSG00000197343	ENST00000252713;ENST00000493277;ENST00000422164;ENST00000424881;ENST00000394163	T;T;T;T;T	0.30714	3.45;3.4;1.52;3.4;3.45	4.32	3.43	0.39272	.	0.362607	0.24067	N	0.041860	T	0.30166	0.0756	L	0.54323	1.7	0.80722	D	1	B;B	0.30973	0.302;0.201	B;B	0.36186	0.219;0.055	T	0.17930	-1.0353	10	0.72032	D	0.01	-1.7955	7.7222	0.28740	0.0:0.1797:0.6344:0.1859	.	154;119	Q8N720-3;Q8N720	.;ZN655_HUMAN	N	119;154;154;154;119	ENSP00000252713:S119N;ENSP00000419135:S154N;ENSP00000389260:S154N;ENSP00000393876:S154N;ENSP00000377718:S119N	ENSP00000252713:S119N	S	+	2	0	ZNF655	99008023	0.027000	0.19231	1.000000	0.80357	0.936000	0.57629	1.530000	0.36007	1.409000	0.46915	0.650000	0.86243	AGC	ZNF655-202	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344928.1		+	ENST00000424881.1	Missense_Mutation	SNP	7 : 99170087 - 99170087 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	483	83
PTDSS2	81490	broad.mit.edu	37	11	488249	488249	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:488249C>T	ENST00000308020.5	+	7	848	c.672C>T	c.(670-672)ttC>ttT	p.F224F		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	224						integral to membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	GCGTGATGTTCGAGTTCCTGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	125	133			NA	NA	11		NA											NA				488249		2203	4300	6503	SO:0001819	synonymous_variant			BC001210	CCDS7696.1	11p15	2008-05-02			ENSG00000174915	ENSG00000174915	81490	81490			15463	protein-coding gene	gene with protein product		612793			NA	14984733	Standard		NM_030783	NA	Approved	PSS2	uc001lpj.3	Q9BVG9	OTTHUMG00000119087	ENST00000308020.5:c.672C>T	11.37:g.488249C>T		NA		37	CCDS7696.1																																																																																			PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239301.2		+	ENST00000308020.5	Silent	SNP	11 : 488249 - 488249 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	327	59
ZSCAN22	342945	broad.mit.edu	37	19	58850414	58850414	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58850414C>T	ENST00000329665.4	+	3	1345	c.1198C>T	c.(1198-1200)Cgc>Tgc	p.R400C		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	400					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		TCAACACCAGCGCATCCACAC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	73	75			NA	NA	19		NA											NA				58850414		2203	4300	6503	SO:0001583	missense			M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20			342945	342945		-, Zinc fingers, C2H2-type	4929	protein-coding gene	gene with protein product	oncogene HKR2	165260	zinc finger protein 50, GLI-Kruppel family member HKR2	ZNF50, HKR2	NA	2850480, 1505991	Standard	NM_181846	NM_181846	NA	Approved		uc002qsc.2	P10073		ENST00000329665.4:c.1198C>T	19.37:g.58850414C>T	ENSP00000332433:p.Arg400Cys	NA	Q15922|Q7Z3L8	37	CCDS12975.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087477	0.36855	.	.	ENSG00000182318	ENST00000329665	T	0.25749	1.78	4.06	-2.92	0.05615	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46946	0.1419	M	0.89904	3.07	0.41325	D	0.987202	D	0.89917	1.0	D	0.73380	0.98	T	0.54984	-0.8211	9	0.87932	D	0	.	3.2415	0.06782	0.5382:0.2312:0.1359:0.0948	.	400	P10073	ZSC22_HUMAN	C	400	ENSP00000332433:R400C	ENSP00000332433:R400C	R	+	1	0	ZSCAN22	63542226	0.000000	0.05858	0.563000	0.28383	0.018000	0.09664	-4.341000	0.00250	-0.151000	0.11176	-0.311000	0.09066	CGC	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466765.1		+	ENST00000329665.4	Missense_Mutation	SNP	19 : 58850414 - 58850414 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	500	65
ANKRD52	283373	broad.mit.edu	37	12	56647086	56647086	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56647086G>A	ENST00000267116.7	-	10	1207	c.1086C>T	c.(1084-1086)ggC>ggT	p.G362G		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	362							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CGGTATCTGCGCCATTGGTCA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	72	71			NA	NA	12		NA											NA				56647086		2105	4227	6332	SO:0001819	synonymous_variant			AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645	283373	283373		Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits, Ankyrin repeat domain containing	26614	protein-coding gene	gene with protein product	protein phosphatase 6 ankyrin repeat subunit C				NA		Standard	NM_173595	NM_173595	NA	Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.1086C>T	12.37:g.56647086G>A		NA	A6NE79|B1Q2K2	37	CCDS44920.1																																																																																			ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408539.1		-	ENST00000267116.7	Silent	SNP	12 : 56647086 - 56647086 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	384	68
ASAP3	55616	broad.mit.edu	37	1	23758362	23758362	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23758362C>T	ENST00000336689.3	-	23	2417	c.2373G>A	c.(2371-2373)gaG>gaA	p.E791E	ASAP3_ENST00000437606.2_Silent_p.E782E|ASAP3_ENST00000495646.1_Silent_p.E295E	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	791					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						TGCCCAGGCTCTCAGGGGTCT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	1,4405	2.1+/-5.4	0,1,2202	40	47	45		2346,2373	3.1	0.7	1		45	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ASAP3	NM_001143778.1,NM_017707.3	,	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	,	782/895,791/904	23758362	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280	55616	55616		ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing	14987	protein-coding gene	gene with protein product	centaurin, beta 6		development and differentiation enhancing factor-like 1	DDEFL1	NA	14654939	Standard	NM_017707	NM_017707	NA	Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.2373G>A	1.37:g.23758362C>T		NA	B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	37	CCDS235.1																																																																																			ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000008916.2		-	ENST00000336689.3	Silent	SNP	1 : 23758362 - 23758362 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	424	87
SLC18A3	6572	broad.mit.edu	37	10	50819143	50819143	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50819143C>T	ENST00000374115.3	+	1	797	c.357C>T	c.(355-357)agC>agT	p.S119S	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	119					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CTACGGAGAGCGAAGACGTGA	0.652		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	10		NA											NA				50819143		2203	4300	6503	SO:0001819	synonymous_variant			BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714	6572	6572		Solute carriers	10936	protein-coding gene	gene with protein product		600336			NA	8071310	Standard	NM_003055	NM_003055	NA	Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.357C>T	10.37:g.50819143C>T		NA	B2R7S1	37	CCDS7231.1																																																																																			SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047995.1		+	ENST00000374115.3	Silent	SNP	10 : 50819143 - 50819143 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	683	61
LLGL2	3993	broad.mit.edu	37	17	73566151	73566151	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73566151C>A	ENST00000392550.3	+	15	1806	c.1689C>A	c.(1687-1689)cgC>cgA	p.R563R	LLGL2_ENST00000167462.5_Silent_p.R563R|LLGL2_ENST00000577200.1_Silent_p.R563R	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	563					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGCACGAGCGCCTGGCAGCCC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	28	28			NA	NA	17		NA											NA				73566151		2200	4299	6499	SO:0001819	synonymous_variant			X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350	3993	3993		WD repeat domain containing	6629	protein-coding gene	gene with protein product			lethal giant larvae (Drosophila) homolog 2		NA		Standard	NM_004524	XR_243659	NA	Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.1689C>A	17.37:g.73566151C>A		NA	Q14521|Q9BR62	37	CCDS32733.1																																																																																			LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447633.1		+	ENST00000392550.3	Silent	SNP	17 : 73566151 - 73566151 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	159	27
PIK3AP1	118788	broad.mit.edu	37	10	98376418	98376418	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98376418C>T	ENST00000339364.5	-	13	2111	c.1992G>A	c.(1990-1992)aaG>aaA	p.K664K	PIK3AP1_ENST00000371109.3_Silent_p.K263K|PIK3AP1_ENST00000371110.2_Silent_p.K486K	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	664						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CTGATTTTTGCTTCTCTCTCT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													442	347	380			NA	NA	10		NA											NA				98376418		2203	4300	6503	SO:0001819	synonymous_variant			AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629	118788	118788			30034	protein-coding gene	gene with protein product		607942			NA	1251844, 11163197	Standard	NM_152309	NM_152309	NA	Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1992G>A	10.37:g.98376418C>T		NA	Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	37	CCDS31259.1																																																																																			PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049619.2		-	ENST00000339364.5	Silent	SNP	10 : 98376418 - 98376418 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	855	136
ZNF619	285267	broad.mit.edu	37	3	40524102	40524102	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40524102G>T	ENST00000314686.5	+	4	509	c.104G>T	c.(103-105)aGa>aTa	p.R35I	ZNF619_ENST00000522736.1_Missense_Mutation_p.R35I|ZNF619_ENST00000447116.2_Missense_Mutation_p.D108Y|ZNF619_ENST00000521353.1_Missense_Mutation_p.D108Y|ZNF619_ENST00000429348.2_Missense_Mutation_p.D68Y|ZNF619_ENST00000432264.2_Missense_Mutation_p.D68Y|ZNF619_ENST00000456778.1_Missense_Mutation_p.D24Y|ZNF619_ENST00000520737.1_3'UTR			E9PCD9	E9PCD9_HUMAN	zinc finger protein 619	0					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCCCAAACCAGATCTGATATT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	138	140			NA	NA	3		NA											NA				40524102		2203	4300	6503	SO:0001583	missense			AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873	285267	285267		Zinc fingers, C2H2-type, -	26910	protein-coding gene	gene with protein product					NA		Standard	NM_173656	NM_001145083	NA	Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.104G>T	3.37:g.40524102G>T	ENSP00000322529:p.Arg35Ile	NA		37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.442|8.442	0.851048|0.851048	0.17034|0.17034	.|.	.|.	ENSG00000177873|ENSG00000177873	ENST00000447116;ENST00000429348;ENST00000456778;ENST00000521353;ENST00000432264|ENST00000314686;ENST00000522736	T;T;T;T;T|T;T	0.42900|0.08282	3.3;0.96;3.2;3.3;0.96|3.12;3.11	3.4|3.4	1.53|1.53	0.23141|0.23141	.|.	.|.	.|.	.|.	.|.	T|T	0.06690|0.06690	0.0171|0.0171	L|L	0.45581|0.45581	1.43|1.43	0.21897|0.21897	N|N	0.999483|0.999483	P;P;P;P|P;P	0.40476|0.40476	0.561;0.561;0.718;0.718|0.718;0.718	B;B;B;B|B;B	0.34242|0.31245	0.128;0.088;0.124;0.178|0.126;0.126	T|T	0.30822|0.30822	-0.9965|-0.9965	9|9	0.62326|0.72032	D|D	0.03|0.01	.|.	6.2387|6.2387	0.20778|0.20778	0.1161:0.1962:0.6877:0.0|0.1161:0.1962:0.6877:0.0	.|.	24;68;108;10|35;35	B4E271;C9JRN5;E9PCD9;B7Z9B3|Q17RW3;Q8N2I2	.;.;.;.|.;ZN619_HUMAN	Y|I	108;68;24;108;68|35	ENSP00000411132:D108Y;ENSP00000398024:D68Y;ENSP00000397232:D24Y;ENSP00000430705:D108Y;ENSP00000388710:D68Y|ENSP00000322529:R35I;ENSP00000428004:R35I	ENSP00000398024:D68Y|ENSP00000322529:R35I	D|R	+|+	1|2	0|0	ZNF619|ZNF619	40499106|40499106	0.000000|0.000000	0.05858|0.05858	0.999000|0.999000	0.59377|0.59377	0.075000|0.075000	0.17131|0.17131	0.160000|0.160000	0.16462|0.16462	0.770000|0.770000	0.33336|0.33336	0.563000|0.563000	0.77884|0.77884	GAT|AGA	ZNF619-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000254180.2		+	ENST00000314686.5	Missense_Mutation	SNP	3 : 40524102 - 40524102 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	817	153
DCDC1	341019	broad.mit.edu	37	11	30938573	30938573	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30938573T>G	ENST00000597505.1	-	24	3295	c.3296A>C	c.(3295-3297)gAt>gCt	p.D1099A	DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.D178A			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TACGTGTGAATCTCTATCAAG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	128	129			NA	NA	11		NA											NA				30938573		2202	4299	6501	SO:0001583	missense			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959	341019	341019			20625	protein-coding gene	gene with protein product		608062			NA	12820024	Standard	NM_181807	NM_181807	NA	Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.3296A>C	11.37:g.30938573T>G	ENSP00000472625:p.Asp1099Ala	NA	A6PVL6	37		.	.	.	.	.	.	.	.	.	.	T	15.15	2.747505	0.49257	.	.	ENSG00000170959	ENST00000339794	.	.	.	5.65	5.65	0.86999	.	0.000000	0.56097	D	0.000030	T	0.64000	0.2559	M	0.72479	2.2	0.29768	N	0.834983	D	0.69078	0.997	P	0.61397	0.888	T	0.66424	-0.5927	9	0.54805	T	0.06	-19.8465	13.3972	0.60861	0.0:0.0:0.0:1.0	.	178	Q6ZRR9	DCDC5_HUMAN	A	178	.	ENSP00000341700:D178A	D	-	2	0	DCDC5	30895149	1.000000	0.71417	0.920000	0.36463	0.108000	0.19459	2.938000	0.48987	2.140000	0.66376	0.459000	0.35465	GAT	DCDC1-010	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000463167.1		-	ENST00000597505.1	Missense_Mutation	SNP	11 : 30938573 - 30938573 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	547	108
OR4D2	124538	broad.mit.edu	37	17	56247902	56247902	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56247902G>T	ENST00000545221.1	+	1	886	c.886G>T	c.(886-888)Gca>Tca	p.A296S		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A296T(1)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						GGACATGCAGGCAGCAGTGAG	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)											101	101	101			NA	NA	17		NA											NA				56247902		2203	4300	6503	SO:0001583	missense				CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713	124538	124538		GPCR / Class A : Olfactory receptors	8294	protein-coding gene	gene with protein product					NA		Standard		NM_001004707	NA	Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.886G>T	17.37:g.56247902G>T	ENSP00000441354:p.Ala296Ser	NA	Q6IFN8|Q96R75	37	CCDS32688.1	.	.	.	.	.	.	.	.	.	.	G	1.950	-0.441560	0.04604	.	.	ENSG00000255713	ENST00000545221	T	0.36520	1.25	5.65	4.58	0.56647	.	0.124396	0.36482	N	0.002563	T	0.14184	0.0343	N	0.05259	-0.085	0.26979	N	0.965404	B	0.14012	0.009	B	0.15870	0.014	T	0.27331	-1.0077	10	0.09338	T	0.73	-12.4766	6.156	0.20338	0.092:0.0:0.6791:0.2289	.	296	P58180	OR4D2_HUMAN	S	296	ENSP00000441354:A296S	ENSP00000441354:A296S	A	+	1	0	OR4D2	53602901	0.002000	0.14202	1.000000	0.80357	0.791000	0.44710	-0.003000	0.12901	2.825000	0.97269	0.609000	0.83330	GCA	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443366.1		+	ENST00000545221.1	Missense_Mutation	SNP	17 : 56247902 - 56247902 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	719	36
SF3B5	83443	broad.mit.edu	37	6	144416556	144416556	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144416556T>C	ENST00000367569.2	-	1	198	c.79A>G	c.(79-81)Acc>Gcc	p.T27A		NM_031287.2	NP_112577.1	Q9BWJ5	SF3B5_HUMAN	splicing factor 3b, subunit 5, 10kDa	27					nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex				lung(2)|prostate(1)	3				OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)		TCCCACTTGGTGGTGTCGGCG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	72	77			NA	NA	6		NA											NA				144416556		2203	4300	6503	SO:0001583	missense			BC000198	CCDS5204.1	6q24.1	2010-01-26			ENSG00000169976	ENSG00000169976	83443	83443			21083	protein-coding gene	gene with protein product					NA	12234937	Standard	NM_031287	NM_031287	NA	Approved	SF3b10, MGC3133, Ysf3	uc003qkr.1	Q9BWJ5	OTTHUMG00000015737	ENST00000367569.2:c.79A>G	6.37:g.144416556T>C	ENSP00000356541:p.Thr27Ala	NA	B2R568|Q7RTV1	37	CCDS5204.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.111018	0.77210	.	.	ENSG00000169976	ENST00000367569	.	.	.	5.53	5.53	0.82687	.	0.093132	0.64402	D	0.000001	T	0.43765	0.1262	.	.	.	0.58432	D	0.999996	B	0.09022	0.002	B	0.09377	0.004	T	0.48703	-0.9012	8	0.72032	D	0.01	.	15.4975	0.75666	0.0:0.0:0.0:1.0	.	27	Q9BWJ5	SF3B5_HUMAN	A	27	.	ENSP00000356541:T27A	T	-	1	0	SF3B5	144458249	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.799000	0.85936	2.324000	0.78689	0.533000	0.62120	ACC	SF3B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042537.1		-	ENST00000367569.2	Missense_Mutation	SNP	6 : 144416556 - 144416556 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	392	72
CDH12	1010	broad.mit.edu	37	5	22078698	22078698	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:22078698T>G	ENST00000382254.1	-	5	1174	c.88A>C	c.(88-90)Act>Cct	p.T30P	CDH12_ENST00000504376.2_Missense_Mutation_p.T30P|CDH12_ENST00000522262.1_Missense_Mutation_p.T30P	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	30					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GTGGCTAAAGTCTGCTGTGGC	0.453		NA								HNSCC(59;0.17)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													202	202	202			NA	NA	5		NA											NA				22078698		2203	4300	6503	SO:0001583	missense			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162	1010	1010		Cadherins / Major cadherins	1751	protein-coding gene	gene with protein product		600562			NA	7731968	Standard	NM_004061	NM_004061	NA	Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.88A>C	5.37:g.22078698T>G	ENSP00000371689:p.Thr30Pro	NA	B2RBT1|Q86UD2	37	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	T	13.03	2.114372	0.37339	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.57436	0.46;0.46;0.4	5.57	5.57	0.84162	.	0.200215	0.52532	D	0.000078	T	0.29620	0.0739	N	0.08118	0	0.39251	D	0.964037	P;P	0.38922	0.651;0.651	B;B	0.31614	0.133;0.133	T	0.27191	-1.0081	10	0.25751	T	0.34	.	14.3088	0.66403	0.0:0.0:0.0:1.0	.	30;30	B7Z2U6;P55289	.;CAD12_HUMAN	P	30	ENSP00000423577:T30P;ENSP00000371689:T30P;ENSP00000428786:T30P	ENSP00000371689:T30P	T	-	1	0	CDH12	22114455	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.068000	0.64364	2.131000	0.65755	0.454000	0.30748	ACT	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207139.1		-	ENST00000382254.1	Missense_Mutation	SNP	5 : 22078698 - 22078698 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1196	199
C1orf43	25912	broad.mit.edu	37	1	154185064	154185064	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154185064G>A	ENST00000368521.5	-	5	575	c.377C>T	c.(376-378)tCc>tTc	p.S126F	C1orf43_ENST00000368516.1_Missense_Mutation_p.S92F|C1orf43_ENST00000362076.4_Missense_Mutation_p.S74F|C1orf43_ENST00000350592.3_Missense_Mutation_p.S92F|C1orf43_ENST00000368519.1_Missense_Mutation_p.S108F|C1orf43_ENST00000368518.1_Missense_Mutation_p.S126F	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	126						integral to membrane	coenzyme binding|oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					GCCCATTAAGGAACGGGGATG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	60	61			NA	NA	1		NA											NA				154185064		2203	4300	6503	SO:0001583	missense			AF077036	CCDS1061.1, CCDS1062.1, CCDS41404.1, CCDS72924.1	1q21.2	2012-06-25			ENSG00000143612	ENSG00000143612	25912	25912			29876	protein-coding gene	gene with protein product					NA	11042152, 11230159	Standard	NM_015449	XM_005245077	NA	Approved	NICE-3, DKFZp586G1722	uc001fei.2	Q9BWL3	OTTHUMG00000035981	ENST00000368521.5:c.377C>T	1.37:g.154185064G>A	ENSP00000357507:p.Ser126Phe	NA	A8K3G8|D3DV72|D3DV74|Q5M801|Q5VU73|Q5VU83|Q96HP7|Q9UFU2|Q9UGL7|Q9UGL8|Q9Y2R6	37	CCDS41404.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.450681	0.26074	.	.	ENSG00000143612	ENST00000350592;ENST00000368521;ENST00000362076;ENST00000368519;ENST00000368518;ENST00000368516	.	.	.	5.39	3.5	0.40072	.	0.105696	0.64402	D	0.000003	T	0.43211	0.1237	L	0.60455	1.87	0.50039	D	0.999843	B;B;B;B;B	0.24258	0.028;0.082;0.089;0.008;0.1	B;B;B;B;B	0.29942	0.027;0.039;0.109;0.01;0.066	T	0.48758	-0.9007	9	0.59425	D	0.04	-18.5473	9.4956	0.38986	0.0739:0.0:0.7829:0.1433	.	108;92;126;74;92	Q9BWL3-5;Q9BWL3-2;Q9BWL3;Q9BWL3-4;Q09GN0	.;.;CA043_HUMAN;.;.	F	92;126;74;108;126;92	.	ENSP00000271925:S92F	S	-	2	0	C1orf43	152451688	1.000000	0.71417	0.990000	0.47175	0.313000	0.28021	6.720000	0.74723	0.820000	0.34516	-0.302000	0.09304	TCC	C1orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087664.2		-	ENST00000368521.5	Missense_Mutation	SNP	1 : 154185064 - 154185064 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	328	26
LRP8	7804	broad.mit.edu	37	1	53716509	53716509	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53716509A>G	ENST00000465675.1	-	15	2033	c.1188T>C	c.(1186-1188)agT>agC	p.S396S	LRP8_ENST00000347547.2_Silent_p.S673S|LRP8_ENST00000371454.2_Silent_p.S843S|LRP8_ENST00000354412.3_Silent_p.S639S|LRP8_ENST00000306052.6_Silent_p.S843S			Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	843	EGF-like 2; calcium-binding (Potential).				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						TCAGGTATCCACTCATGCACA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	150	157			NA	NA	1		NA											NA				53716509		2203	4300	6503	SO:0001819	synonymous_variant			D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193	7804	7804		Low density lipoprotein receptors	6700	protein-coding gene	gene with protein product		602600			NA	8626535, 9079678	Standard	NM_004631	NM_004631	NA	Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000465675.1:c.1188T>C	1.37:g.53716509A>G		NA	B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	37																																																																																				LRP8-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000024702.2		-	ENST00000465675.1	Silent	SNP	1 : 53716509 - 53716509 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	469	43
GRIN2C	2905	broad.mit.edu	37	17	72848164	72848164	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72848164T>C	ENST00000293190.5	-	3	1132	c.986A>G	c.(985-987)gAg>gGg	p.E329G	GRIN2C_ENST00000347612.4_Missense_Mutation_p.E329G	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	329					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GTAGAAGGCCTCCCGGGCAGG	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													7	8	8			NA	NA	17		NA											NA				72848164		2013	4009	6022	SO:0001583	missense				CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509	2905	2905		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4587	protein-coding gene	gene with protein product		138254		NMDAR2C	NA	9480759	Standard		NM_001278553	NA	Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.986A>G	17.37:g.72848164T>C	ENSP00000293190:p.Glu329Gly	NA	B2RTT1	37	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	T	13.16	2.154715	0.38021	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.05199	3.48	4.48	4.48	0.54585	.	0.060840	0.64402	D	0.000004	T	0.05181	0.0138	N	0.21448	0.665	0.34608	D	0.717263	B;B	0.06786	0.001;0.001	B;B	0.10450	0.003;0.005	T	0.22556	-1.0213	10	0.33940	T	0.23	.	11.2339	0.48929	0.0:0.0:0.1642:0.8358	.	363;329	Q8IW23;Q14957	.;NMDE3_HUMAN	G	329;363	ENSP00000293190:E329G	ENSP00000293190:E329G	E	-	2	0	GRIN2C	70359759	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	1.358000	0.34102	2.003000	0.58678	0.459000	0.35465	GAG	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000103824.1		-	ENST00000293190.5	Missense_Mutation	SNP	17 : 72848164 - 72848164 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	110	28
NCOA3	8202	broad.mit.edu	37	20	46277853	46277853	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46277853G>A	ENST00000371998.3	+	19	3842	c.3651G>A	c.(3649-3651)caG>caA	p.Q1217Q	NCOA3_ENST00000372004.3_Intron|NCOA3_ENST00000371997.3_Intron|NCOA3_ENST00000341724.6_Intron			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1217	Acetyltransferase.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						tgagctcccaggtgaggatga	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	55	57			NA	NA	20		NA											NA				46277853		2203	4300	6503	SO:0001630	splice_region_variant			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151	8202	8202		Chromatin-modifying enzymes / K-acetyltransferases, Basic helix-loop-helix proteins	7670	protein-coding gene	gene with protein product	receptor-associated coactivator 3, thyroid hormone receptor activator molecule 1	601937			NA	9252329, 9346901	Standard	NM_006534	NM_181659	NA	Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3651+1G>A	20.37:g.46277853G>A		NA	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	37	CCDS13407.1																																																																																			NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080405.1	Silent	+	ENST00000371998.3	Splice_Site	SNP	20 : 46277853 - 46277853 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	231	34
AFF3	3899	broad.mit.edu	37	2	100209827	100209827	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100209827G>T	ENST00000409236.2	-	13	2408	c.2296C>A	c.(2296-2298)Ctc>Atc	p.L766I	AFF3_ENST00000317233.4_Missense_Mutation_p.L766I|AFF3_ENST00000356421.2_Missense_Mutation_p.L791I|AFF3_ENST00000409579.1_Missense_Mutation_p.L791I			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	NA					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TTGACCCAGAGAGACCTGATC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	65	67			NA	NA	2		NA											NA				100209827		2203	4300	6503	SO:0001583	missense			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218	3899	3899			6473	protein-coding gene	gene with protein product		601464	lymphoid nuclear protein related to AF4	LAF4	NA	8662235, 8555498	Standard	NM_002285	XM_005263945	NA	Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2296C>A	2.37:g.100209827G>T	ENSP00000387207:p.Leu766Ile	NA	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	37	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245767	0.80024	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.5	5.5	0.81552	.	0.211909	0.32578	N	0.005904	D	0.90068	0.6898	M	0.87180	2.865	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.91635	0.993;0.999;0.96	D	0.90986	0.4831	10	0.62326	D	0.03	.	19.3822	0.94542	0.0:0.0:1.0:0.0	.	919;766;791	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	I	766;791;791;766;766;919	ENSP00000317421:L766I;ENSP00000348793:L791I;ENSP00000386834:L791I;ENSP00000387207:L766I	ENSP00000317421:L766I	L	-	1	0	AFF3	99576259	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.829000	0.75314	2.596000	0.87737	0.561000	0.74099	CTC	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328982.3		-	ENST00000409236.2	Missense_Mutation	SNP	2 : 100209827 - 100209827 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	391	60
AKAP7	9465	broad.mit.edu	37	6	131602681	131602681	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131602681G>A	ENST00000431975.2	+	8	960	c.862G>A	c.(862-864)Gga>Aga	p.G288R	AKAP7_ENST00000368123.4_Missense_Mutation_p.G266R|AKAP7_ENST00000474850.2_Missense_Mutation_p.G44R|AKAP7_ENST00000537868.1_Intron|AKAP7_ENST00000342266.4_Missense_Mutation_p.G21R|AKAP7_ENST00000541650.1_Intron|AKAP7_ENST00000263050.3_Missense_Mutation_p.G24R	NM_016377.3	NP_057461.2	O43687	AKA7A_HUMAN	A kinase (PRKA) anchor protein 7	44					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		TGAAAAGAACGGAGGGGAGCC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	59	58			NA	NA	6		NA											NA				131602681		2203	4300	6503	SO:0001583	missense			AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507	9465	9465		A-kinase anchor proteins	377	protein-coding gene	gene with protein product		604693			NA	9545239	Standard	NM_004842	NM_016377	NA	Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.862G>A	6.37:g.131602681G>A	ENSP00000405252:p.Gly288Arg	NA	A8K2K6|Q5TBR9|Q5TBS0|Q9HCZ8|Q9P0G4	37	CCDS5142.2	.	.	.	.	.	.	.	.	.	.	G	12.18	1.859363	0.32884	.	.	ENSG00000118507	ENST00000431975;ENST00000368123;ENST00000263050;ENST00000342266;ENST00000474850	T;T	0.31769	1.48;1.48	5.8	3.01	0.34805	Protein kinase A anchor protein, RI-RII subunit-binding domain (1);	0.743893	0.13078	N	0.415487	T	0.05044	0.0135	N	0.12182	0.205	0.29526	N	0.853124	B;P;B	0.37276	0.358;0.589;0.141	B;B;B	0.30105	0.111;0.111;0.028	T	0.26292	-1.0107	10	0.30078	T	0.28	-5.9237	7.7353	0.28810	0.1489:0.1412:0.7099:0.0	.	21;44;288	Q2TAJ5;O43687;Q9P0M2	.;AKA7A_HUMAN;AKA7G_HUMAN	R	288;266;24;21;44	ENSP00000405252:G288R;ENSP00000357105:G266R	ENSP00000263050:G24R	G	+	1	0	AKAP7	131644374	0.996000	0.38824	0.915000	0.36163	0.992000	0.81027	2.395000	0.44459	0.772000	0.33382	0.655000	0.94253	GGA	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042209.2		+	ENST00000431975.2	Missense_Mutation	SNP	6 : 131602681 - 131602681 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	261	40
PROKR2	128674	broad.mit.edu	37	20	5283374	5283374	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5283374G>A	ENST00000217270.3	-	2	466	c.467C>T	c.(466-468)gCc>gTc	p.A156V	PROKR2_ENST00000546004.1_Missense_Mutation_p.A156V	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	156						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GTGAACGATGGCGAGATATCT	0.488		NA								HNSCC(71;0.22)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	82	80			NA	NA	20		NA											NA				5283374		2203	4300	6503	SO:0001583	missense			AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292	128674	128674		GPCR / Class A : Prokineticin receptors	15836	protein-coding gene	gene with protein product		607123	G protein-coupled receptor 73-like 1, Kallmann syndrome 3 (autosomal dominant)	GPR73L1, KAL3	NA	11886876, 17054399	Standard	NM_144773	NM_144773	NA	Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.467C>T	20.37:g.5283374G>A	ENSP00000217270:p.Ala156Val	NA	A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	37	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	G	3.340	-0.134891	0.06711	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.52057	0.68;0.68	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.40932	0.1137	L	0.27944	0.81	0.80722	D	1	B	0.24258	0.1	B	0.32289	0.143	T	0.26643	-1.0097	10	0.41790	T	0.15	.	16.3922	0.83543	0.0:0.0:1.0:0.0	.	156	Q8NFJ6	PKR2_HUMAN	V	156	ENSP00000440790:A156V;ENSP00000217270:A156V	ENSP00000217270:A156V	A	-	2	0	PROKR2	5231374	1.000000	0.71417	0.827000	0.32855	0.029000	0.11900	9.294000	0.96088	2.465000	0.83290	0.655000	0.94253	GCC	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077854.1		-	ENST00000217270.3	Missense_Mutation	SNP	20 : 5283374 - 5283374 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	84
AVPR1A	552	broad.mit.edu	37	12	63544452	63544452	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:63544452G>A	ENST00000299178.2	-	1	270	c.165C>T	c.(163-165)atC>atT	p.I55I		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	55					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCAGCACGGCGATCTCCAGTT	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	38	40			NA	NA	12		NA											NA				63544452		2191	4273	6464	SO:0001819	synonymous_variant			L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148	NA	552		GPCR / Class A : Vasopressin and oxytocin receptors	895	protein-coding gene	gene with protein product		600821		AVPR1	NA	8106369	Standard		NM_000706	NA	Approved		uc001sro.2	P37288		ENST00000299178.2:c.165C>T	12.37:g.63544452G>A		NA		37	CCDS8965.1																																																																																			AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406734.1		-	ENST00000299178.2	Silent	SNP	12 : 63544452 - 63544452 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	369	68
CPSF3L	54973	broad.mit.edu	37	1	1255909	1255909	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1255909G>A	ENST00000435064.1	-	3	209	c.127C>T	c.(127-129)Cga>Tga	p.R43*	CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000450926.2_Splice_Site_p.R43*|CPSF3L_ENST00000545578.1_Splice_Site_p.R14*|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000540437.1_Splice_Site_p.R49*|CPSF3L_ENST00000419704.1_Intron	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	43						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		GGGAAGCGTCGCTAGGAAGGA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	152	153			NA	NA	1		NA											NA				1255909		2203	4300	6503	SO:0001630	splice_region_variant			AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054	54973	54973			26052	protein-coding gene	gene with protein product	integrator complex subunit 11	611354			NA	15684398, 16239144	Standard	NM_017871	NM_001256456	NA	Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.127-1C>T	1.37:g.1255909G>A		NA	Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	37	CCDS21.1	.	.	.	.	.	.	.	.	.	.	g	14.41	2.526940	0.44969	.	.	ENSG00000127054	ENST00000435064;ENST00000294579;ENST00000540437;ENST00000450926;ENST00000545578;ENST00000434694;ENST00000527719;ENST00000530031;ENST00000534345;ENST00000498476	.	.	.	4.73	0.793	0.18632	.	0.048715	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-53.2948	13.2437	0.60012	0.0:0.0:0.5864:0.4136	.	.	.	.	X	43;55;49;43;14;43;49;90;44;103	.	ENSP00000294579:R55X	R	-	1	2	CPSF3L	1245772	1.000000	0.71417	0.930000	0.37139	0.223000	0.24884	1.562000	0.36353	-0.130000	0.11599	-0.269000	0.10298	CGA	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000009360.2	Nonsense_Mutation	-	ENST00000435064.1	Splice_Site	SNP	1 : 1255909 - 1255909 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	610	138
SAP130	79595	broad.mit.edu	37	2	128699597	128699597	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128699597G>A	ENST00000259234.6	-	21	3340	c.3154C>T	c.(3154-3156)Cga>Tga	p.R1052*	SAP130_ENST00000259235.3_Nonsense_Mutation_p.R1044*|SAP130_ENST00000357702.5_Nonsense_Mutation_p.R1079*			Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	1044					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TTTTCCTTTCGCTTCAATTTG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	153	157			NA	NA	2		NA											NA				128699597		2203	4300	6503	SO:0001587	stop_gained			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715	79595	79595			29813	protein-coding gene	gene with protein product		609697	sin3A-associated protein, 130kDa		NA	11230166, 12724404	Standard	NM_024545	NM_001145928	NA	Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259234.6:c.3154C>T	2.37:g.128699597G>A	ENSP00000259234:p.Arg1052*	NA	C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	37		.	.	.	.	.	.	.	.	.	.	.	35	5.482949	0.96307	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	6.17	4.22	0.49857	.	0.175533	0.51477	D	0.000088	.	.	.	.	.	.	0.38751	D	0.954104	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4403	12.2802	0.54759	0.0657:0.0:0.7579:0.1764	.	.	.	.	X	1079;1044;1052	.	ENSP00000259234:R1052X	R	-	1	2	SAP130	128416067	1.000000	0.71417	0.998000	0.56505	0.001000	0.01503	5.117000	0.64667	1.632000	0.50472	-0.140000	0.14226	CGA	SAP130-002	KNOWN	alternative_5_UTR|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000254437.3		-	ENST00000259234.6	Nonsense_Mutation	SNP	2 : 128699597 - 128699597 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	837	136
ADAM19	8728	broad.mit.edu	37	5	156945848	156945848	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156945848C>T	ENST00000257527.4	-	7	727	c.649G>A	c.(649-651)Gtg>Atg	p.V217M	ADAM19_ENST00000517905.1_Missense_Mutation_p.V217M|ADAM19_ENST00000430702.2_De_novo_Start_InFrame|ADAM19_ENST00000394020.1_Missense_Mutation_p.V219M	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	217	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAATCAGCCACGAGGTAAAGC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	177	178			NA	NA	5		NA											NA				156945848		2203	4300	6503	SO:0001583	missense			AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074	8728	8728		ADAM metallopeptidase domain containing	197	protein-coding gene	gene with protein product	meltrin beta	603640	a disintegrin and metalloproteinase domain 19 (meltrin beta)		NA	9806848	Standard	NM_033274	NM_033274	NA	Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000257527.4:c.649G>A	5.37:g.156945848C>T	ENSP00000257527:p.Val217Met	NA	Q9BZL5|Q9UHP2	37	CCDS4338.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478870	0.84747	.	.	ENSG00000135074	ENST00000257527;ENST00000394020;ENST00000517905	T;T;T	0.74315	-0.83;-0.83;-0.83	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000017	D	0.92315	0.7562	H	0.98754	4.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95271	0.8377	10	0.87932	D	0	.	18.0871	0.89461	0.0:1.0:0.0:0.0	.	217	Q9H013-2	.	M	217;219;217	ENSP00000257527:V217M;ENSP00000377588:V219M;ENSP00000428654:V217M	ENSP00000257527:V217M	V	-	1	0	ADAM19	156878426	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	6.542000	0.73869	2.567000	0.86603	0.655000	0.94253	GTG	ADAM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252566.1		-	ENST00000257527.4	Missense_Mutation	SNP	5 : 156945848 - 156945848 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1205	233
AFG3L2	10939	broad.mit.edu	37	18	12353089	12353089	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12353089C>T	ENST00000269143.3	-	10	1464	c.1233G>A	c.(1231-1233)gcG>gcA	p.A411A		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	411					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	TCCTTCCCACCGCATCGATTT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													197	151	167			NA	NA	18		NA											NA				12353089		2203	4300	6503	SO:0001819	synonymous_variant			Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385	10939	10939		ATPases / AAA-type	315	protein-coding gene	gene with protein product		604581	AFG3 (ATPase family gene 3, yeast)-like 2, spinocerebellar ataxia 28, AFG3 ATPase family gene 3-like 2 (yeast), AFG3 ATPase family gene 3-like 2 (S. cerevisiae), AFG3 ATPase family member 3-like 2 (S. cerevisiae)	SCA28	NA	10395799, 18769991	Standard	NM_006796	NM_006796	NA	Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.1233G>A	18.37:g.12353089C>T		NA	Q6P1L0	37	CCDS11859.1																																																																																			AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254603.2		-	ENST00000269143.3	Silent	SNP	18 : 12353089 - 12353089 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	675	118
LRRK1	79705	broad.mit.edu	37	15	101602803	101602803	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101602803C>A	ENST00000388948.3	+	31	5181	c.4822C>A	c.(4822-4824)Ctc>Atc	p.L1608I	LRRK1_ENST00000284395.5_Missense_Mutation_p.L1605I|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1608					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CATCTACACCCTCAAGGGCAT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	138	136			NA	NA	15		NA											NA				101602803		1996	4164	6160	SO:0001583	missense			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237	79705	79705			18608	protein-coding gene	gene with protein product		610986			NA	11347906, 14654223	Standard	NM_024652	XM_005254979	NA	Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.4822C>A	15.37:g.101602803C>A	ENSP00000373600:p.Leu1608Ile	NA	Q6NVH5|Q6NYC0|Q6ZNL9|Q6ZNM9|Q96JN5|Q9H5S3	37	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.931718	0.73442	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	T;T	0.72505	-0.66;-0.66	5.29	4.26	0.50523	WD40 repeat-like-containing domain (1);	0.000000	0.64402	D	0.000002	T	0.77698	0.4169	M	0.64997	1.995	0.38501	D	0.948239	D	0.76494	0.999	D	0.63793	0.918	T	0.79245	-0.1883	10	0.51188	T	0.08	.	9.1937	0.37215	0.0:0.8023:0.0:0.1977	.	1608	Q38SD2	LRRK1_HUMAN	I	1608;1605;299;162	ENSP00000373600:L1608I;ENSP00000284395:L1605I	ENSP00000284395:L1605I	L	+	1	0	LRRK1	99420326	0.990000	0.36364	1.000000	0.80357	0.921000	0.55340	2.479000	0.45197	2.484000	0.83849	0.491000	0.48974	CTC	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384567.2		+	ENST00000388948.3	Missense_Mutation	SNP	15 : 101602803 - 101602803 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	449	74
FCRL4	83417	broad.mit.edu	37	1	157551412	157551412	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157551412G>A	ENST00000271532.1	-	7	1293	c.1158C>T	c.(1156-1158)ggC>ggT	p.G386G	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	386						integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CGGCGACAAGGCCATCTCTGT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	42	42			NA	NA	1		NA											NA				157551412		2203	4300	6503	SO:0001819	synonymous_variant			AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518	83417	83417		CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	18507	protein-coding gene	gene with protein product		605876			NA	11290337, 11493702	Standard	NM_031282	NM_031282	NA	Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.1158C>T	1.37:g.157551412G>A		NA	Q96PJ3|Q96RE0	37	CCDS1166.1																																																																																			FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086180.1		-	ENST00000271532.1	Silent	SNP	1 : 157551412 - 157551412 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	212	62
PPIE	10450	broad.mit.edu	37	1	40229424	40229424	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40229424C>T	ENST00000372830.1	+	0	1036				PPIE_ENST00000356511.2_3'UTR|BMP8B_ENST00000397360.2_Missense_Mutation_p.R328Q|BMP8B_ENST00000372827.3_Missense_Mutation_p.R303Q	NM_001195007.1	NP_001181936.1	Q9UNP9	PPIE_HUMAN	peptidylprolyl isomerase E (cyclophilin E)	NA					protein folding|regulation of transcription, DNA-dependent	catalytic step 2 spliceosome	cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding			kidney(3)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	9	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GAGCTCGTGCCGACGGCAGAC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	79	77			NA	NA	1		NA											NA				40229424		2203	4299	6502	SO:0001624	3_prime_UTR_variant			AF042385	CCDS442.1, CCDS443.1, CCDS53299.1	1p32	2013-02-12			ENSG00000084072	ENSG00000084072	10450	10450		RNA binding motif (RRM) containing	9258	protein-coding gene	gene with protein product	peptidyl-prolyl cis-trans isomerase E, cyclophilin 33, cyclophilin E, PPIase E, rotamase E, peptidylprolyl isomerase E, isoform 1	602435			NA	9747881	Standard	NM_006112	NM_203456	NA	Approved	CyP-33, MGC3736, MGC111222	uc001cdw.3	Q9UNP9	OTTHUMG00000009248	ENST00000372830.1:c.*91C>T	1.37:g.40229424C>T		NA	B2R971|O43634|O43635|Q32Q72|Q5TGA0|Q5TGA2|Q9UIZ5	37	CCDS53299.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611999	0.87258	.	.	ENSG00000116985	ENST00000372827;ENST00000397360	D;D	0.90069	-2.61;-2.45	4.02	4.02	0.46733	Transforming growth factor-beta, C-terminal (3);	0.235955	0.40908	U	0.000982	D	0.96194	0.8759	H	0.96943	3.91	0.39632	D	0.970188	D;D	0.89917	1.0;1.0	D;D	0.72338	0.943;0.977	D	0.98128	1.0429	10	0.72032	D	0.01	.	15.4955	0.75646	0.0:1.0:0.0:0.0	.	328;303	E7EMY8;P34820	.;BMP8B_HUMAN	Q	303;328	ENSP00000361915:R303Q;ENSP00000380518:R328Q	ENSP00000361915:R303Q	R	-	2	0	BMP8B	40002011	0.961000	0.32948	0.989000	0.46669	0.997000	0.91878	3.414000	0.52693	2.249000	0.74217	0.650000	0.86243	CGG	PPIE-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025644.1		+	ENST00000372830.1	3'UTR	SNP	1 : 40229424 - 40229424 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	571	60
SNX31	169166	broad.mit.edu	37	8	101608911	101608911	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101608911C>T	ENST00000311812.2	-	10	1084	c.934G>A	c.(934-936)Gtt>Att	p.V312I	SNX31_ENST00000519521.1_5'UTR|SNX31_ENST00000428383.2_Missense_Mutation_p.V213I	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	312					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			ATCTGGAAAACGATGTCCTGG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	111	112			NA	NA	8		NA											NA				101608911		2203	4300	6503	SO:0001583	missense				CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226	169166	169166		Sorting nexins	28605	protein-coding gene	gene with protein product					NA	16782399	Standard	NM_152628	NM_152628	NA	Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.934G>A	8.37:g.101608911C>T	ENSP00000312368:p.Val312Ile	NA	C9J6L9|Q8N0U9	37	CCDS6288.1	.	.	.	.	.	.	.	.	.	.	C	0.854	-0.737498	0.03111	.	.	ENSG00000174226	ENST00000311812;ENST00000428383	T;T	0.22945	2.27;1.93	4.25	-2.68	0.06041	.	1.281140	0.05355	N	0.532635	T	0.08537	0.0212	N	0.00823	-1.155	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.0	T	0.32903	-0.9889	10	0.31617	T	0.26	0.8174	9.798	0.40746	0.0:0.4637:0.0:0.5363	.	213;312	Q8N9S9-2;Q8N9S9	.;SNX31_HUMAN	I	312;213	ENSP00000312368:V312I;ENSP00000405024:V213I	ENSP00000312368:V312I	V	-	1	0	SNX31	101678087	0.009000	0.17119	0.000000	0.03702	0.044000	0.14063	0.098000	0.15189	-0.575000	0.05982	-1.155000	0.01812	GTT	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379910.1		-	ENST00000311812.2	Missense_Mutation	SNP	8 : 101608911 - 101608911 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	530	56
OMA1	115209	broad.mit.edu	37	1	59004545	59004545	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:59004545C>T	ENST00000371226.3	-	2	535	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	OMA1_ENST00000467063.1_Intron|OMA1_ENST00000358603.2_Missense_Mutation_p.R141Q|DAB1_ENST00000485760.1_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	141					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					AGCTTGAAACCGTGGAGAAGT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	135	133			NA	NA	1		NA											NA				59004545		2203	4300	6503	SO:0001583	missense			AK091101	CCDS608.1	1p32.2-p32.1	2013-05-03	2013-05-03		ENSG00000162600	ENSG00000162600	115209	115209			29661	protein-coding gene	gene with protein product	overlapping activity with M-AAA protease, zinc metallopeptidase OMA1		OMA1 zinc metallopeptidase homolog (S. cerevisiae)		NA	12477932	Standard	NM_145243	NM_145243	NA	Approved	MPRP-1, YKR087C, ZMPOMA1, FLJ33782	uc001cyy.3	Q96E52	OTTHUMG00000010068	ENST00000371226.3:c.422G>A	1.37:g.59004545C>T	ENSP00000360270:p.Arg141Gln	NA	D3DQ54|Q5T3G6|Q5T3G7|Q5T3G8|Q5T3G9|Q5T3H0|Q8NBB3	37	CCDS608.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310058	0.60414	.	.	ENSG00000162600	ENST00000358603;ENST00000371226;ENST00000456980;ENST00000419242;ENST00000426139;ENST00000453710	T;T;T;T;T;T	0.33654	2.47;2.48;1.85;1.83;1.83;1.4	5.35	-0.103	0.13609	.	0.705120	0.13458	N	0.386390	T	0.17408	0.0418	N	0.19112	0.55	0.09310	N	1	B;B	0.33739	0.185;0.422	B;B	0.25506	0.021;0.061	T	0.15407	-1.0438	9	.	.	.	-0.1038	7.6729	0.28470	0.0:0.3024:0.4728:0.2248	.	141;141	Q96E52;Q96E52-2	OMA1_HUMAN;.	Q	141	ENSP00000351417:R141Q;ENSP00000360270:R141Q;ENSP00000395053:R141Q;ENSP00000409589:R141Q;ENSP00000416495:R141Q;ENSP00000392978:R141Q	.	R	-	2	0	OMA1	58777133	0.000000	0.05858	0.000000	0.03702	0.980000	0.70556	-0.072000	0.11486	0.164000	0.19529	0.655000	0.94253	CGG	OMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000027819.1		-	ENST00000371226.3	Missense_Mutation	SNP	1 : 59004545 - 59004545 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	730	72
C9orf41	138199	broad.mit.edu	37	9	77613623	77613623	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77613623A>G	ENST00000376834.3	-	5	953	c.801T>C	c.(799-801)gcT>gcC	p.A267A	C9orf41_ENST00000376837.3_3'UTR	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	267										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						GAATCTGATCAGCTGATCTCC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	75	73			NA	NA	9		NA											NA				77613623		2203	4299	6502	SO:0001819	synonymous_variant			AK098661	CCDS6649.1	9q21.31	2012-03-15			ENSG00000156017	ENSG00000156017	138199	138199			23435	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152420	NM_152420	NA	Approved	FLJ25795	uc004ajq.3	Q8N4J0	OTTHUMG00000020032	ENST00000376834.3:c.801T>C	9.37:g.77613623A>G		NA	Q7Z383|Q8N7C5	37	CCDS6649.1																																																																																			C9orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052703.1		-	ENST00000376834.3	Silent	SNP	9 : 77613623 - 77613623 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	52
PICK1	9463	broad.mit.edu	37	22	38470346	38470346	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38470346C>T	ENST00000404072.3	+	12	1214	c.867C>T	c.(865-867)acC>acT	p.T289T	PICK1_ENST00000356976.3_Silent_p.T289T	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	289	AH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					GGGTGAGCACCGGCAACTATG	0.672		NA									OREG0026555	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	30	29			NA	NA	22		NA											NA				38470346		2203	4298	6501	SO:0001819	synonymous_variant			AL049654	CCDS13965.1	22q13.1	2006-02-14	2006-02-14	2006-02-14	ENSG00000100151	ENSG00000100151	9463	9463			9394	protein-coding gene	gene with protein product		605926	protein kinase C, alpha binding protein, protein interacting with PRKCA	PRKCABP	NA	10340301, 10591208	Standard	NM_012407	XM_006724377	NA	Approved	dJ1039K5, MGC15204	uc003aus.3	Q9NRD5	OTTHUMG00000151159	ENST00000404072.3:c.867C>T	22.37:g.38470346C>T		878	O95906	37	CCDS13965.1																																																																																			PICK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321569.2		+	ENST00000404072.3	Silent	SNP	22 : 38470346 - 38470346 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	60
SLC34A3	142680	broad.mit.edu	37	9	140128134	140128134	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140128134G>T	ENST00000538474.1	+	8	1030	c.806G>T	c.(805-807)aGc>aTc	p.S269I	SLC34A3_ENST00000361134.2_Missense_Mutation_p.S269I	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	269					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCCACTAACAGCAGTCTCATT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	80	80			NA	NA	9		NA											NA				140128134		2203	4300	6503	SO:0001583	missense			AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569	142680	142680		Solute carriers	20305	protein-coding gene	gene with protein product		609826	solute carrier family 34 (sodium phosphate), member 3		NA	11880379, 16358215, 16358214	Standard	NM_080877	NM_080877	NA	Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.806G>T	9.37:g.140128134G>T	ENSP00000442397:p.Ser269Ile	NA	A2BFA1	37	CCDS7038.1	.	.	.	.	.	.	.	.	.	.	G	7.457	0.643950	0.14451	.	.	ENSG00000198569	ENST00000538474;ENST00000361134	T;T	0.32753	1.44;1.44	3.05	2.13	0.27403	.	0.761983	0.11378	N	0.570085	T	0.23330	0.0564	L	0.47190	1.495	0.24118	N	0.995812	P	0.38335	0.627	B	0.31614	0.133	T	0.10823	-1.0613	10	0.54805	T	0.06	-3.5643	7.8826	0.29631	0.1326:0.0:0.8674:0.0	.	269	Q8N130	NPT2C_HUMAN	I	269	ENSP00000442397:S269I;ENSP00000355353:S269I	ENSP00000355353:S269I	S	+	2	0	SLC34A3	139247955	0.937000	0.31787	0.618000	0.29105	0.024000	0.10985	2.459000	0.45023	0.591000	0.29711	0.462000	0.41574	AGC	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254712.1		+	ENST00000538474.1	Missense_Mutation	SNP	9 : 140128134 - 140128134 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	592	67
SP100	6672	broad.mit.edu	37	2	231406637	231406637	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231406637C>T	ENST00000340126.4	+	28	2465	c.2434C>T	c.(2434-2436)Ccc>Tcc	p.P812S	AC010149.4_ENST00000455357.1_RNA|AC010149.4_ENST00000414539.1_RNA	NM_001080391.1	NP_001073860.1	P23497	SP100_HUMAN	SP100 nuclear antigen	0					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CCCACAGAAGCCCATGTGGTT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	90	90			NA	NA	2		NA											NA				231406637		1887	4114	6001	SO:0001583	missense			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066	6672	6672		Zinc fingers, PHD-type	11206	protein-coding gene	gene with protein product		604585	nuclear antigen Sp100		NA	2258622, 8695863	Standard	NM_003113	NM_001080391	NA	Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000340126.4:c.2434C>T	2.37:g.231406637C>T	ENSP00000343023:p.Pro812Ser	NA	E9PH61|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	37	CCDS42832.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	14.06|14.06	2.421720|2.421720	0.43020|0.43020	.|.	.|.	ENSG00000067066|ENSG00000067066	ENST00000431952|ENST00000340126;ENST00000414648	.|D	.|0.82255	.|-1.59	4.13|4.13	-1.34|-1.34	0.09143|0.09143	.|.	.|.	.|.	.|.	.|.	T|T	0.79828|0.79828	0.4513|0.4513	M|M	0.74389|0.74389	2.26|2.26	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B	.|0.20550	.|0.021;0.046	.|B;B	.|0.21360	.|0.012;0.034	T|T	0.69702|0.69702	-0.5074|-0.5074	5|9	.|0.62326	.|D	.|0.03	.|.	7.852|7.852	0.29459|0.29459	0.0:0.393:0.0:0.607|0.0:0.393:0.0:0.607	.|.	.|282;812	.|E9PHN1;P23497-4	.|.;.	V|S	185|812;282	.|ENSP00000343023:P812S	.|ENSP00000343023:P812S	A|P	+|+	2|1	0|0	SP100|SP100	231114881|231114881	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.073000|0.073000	0.16967|0.16967	0.029000|0.029000	0.13666|0.13666	-0.279000|-0.279000	0.09167|0.09167	-0.136000|-0.136000	0.14681|0.14681	GCC|CCC	SP100-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000332246.1		+	ENST00000340126.4	Missense_Mutation	SNP	2 : 231406637 - 231406637 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	59
DIDO1	11083	broad.mit.edu	37	20	61542497	61542497	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61542497G>A	ENST00000266070.4	-	3	793	c.468C>T	c.(466-468)agC>agT	p.S156S	DIDO1_ENST00000266071.5_Silent_p.S156S|DIDO1_ENST00000395343.1_Silent_p.S156S|DIDO1_ENST00000370371.4_Silent_p.S156S|DIDO1_ENST00000370366.1_Silent_p.S156S|DIDO1_ENST00000354665.4_Silent_p.S156S|DIDO1_ENST00000395340.1_Silent_p.S156S|DIDO1_ENST00000395335.2_Silent_p.S156S|DIDO1_ENST00000370368.1_Silent_p.S156S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	156					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCAGGCCATCGCTGTCACTAT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)							NA				0													93	72	80			NA	NA	20		NA											NA				61542497		2203	4300	6503	SO:0001819	synonymous_variant			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191	11083	11083		Zinc fingers, PHD-type	2680	protein-coding gene	gene with protein product		604140	chromosome 20 open reading frame 158, death associated transcription factor 1	C20orf158, DATF1	NA	10393935	Standard	NM_080796	NM_033081	NA	Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.468C>T	20.37:g.61542497G>A		NA	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	37	CCDS33506.1																																																																																			DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080091.2		-	ENST00000266070.4	Silent	SNP	20 : 61542497 - 61542497 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	513	114
FAM78B	149297	broad.mit.edu	37	1	166039940	166039940	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166039940A>G	ENST00000338353.3	-	3	913	c.324T>C	c.(322-324)gaT>gaC	p.D108D	FAM78B_ENST00000354422.3_Silent_p.D108D			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	108										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					AGCTCACCCCATCTGAGTCAC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	83	84			NA	NA	1		NA											NA				166039940		2203	4300	6503	SO:0001819	synonymous_variant			AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859	149297	149297			13495	protein-coding gene	gene with protein product					NA		Standard	NM_001017961	NM_001017961	NA	Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.324T>C	1.37:g.166039940A>G		NA	B7Z693	37	CCDS30931.1																																																																																			FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343108.1		-	ENST00000338353.3	Silent	SNP	1 : 166039940 - 166039940 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	36
GNL1	2794	broad.mit.edu	37	6	30520942	30520942	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30520942G>A	ENST00000376621.3	-	7	1793	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	275					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CCCCGCCTCCGACTCTTCTTC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	89	88			NA	NA	6		NA											NA				30520942		2203	4300	6503	SO:0001583	missense				CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590	2794	2794			4413	protein-coding gene	gene with protein product		143024			NA	8180467	Standard		NM_005275	NA	Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.823C>T	6.37:g.30520942G>A	ENSP00000365806:p.Arg275Trp	NA	B0S838|Q96CT5	37	CCDS4680.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.476934	0.84640	.	.	ENSG00000204590	ENST00000376621;ENST00000426875;ENST00000429126	T	0.51325	0.71	5.11	5.11	0.69529	.	0.168978	0.48286	D	0.000182	T	0.57784	0.2077	M	0.71206	2.165	0.45227	D	0.998237	D;D;D	0.89917	1.0;1.0;0.999	D;P;P	0.66979	0.948;0.893;0.853	T	0.61501	-0.7050	10	0.62326	D	0.03	-26.8611	12.7425	0.57261	0.0:0.0:0.8354:0.1645	.	273;137;275	B4DYK6;B4DWZ0;P36915	.;.;GNL1_HUMAN	W	275;97;137	ENSP00000365806:R275W	ENSP00000365806:R275W	R	-	1	2	GNL1	30628921	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.251000	0.58778	2.552000	0.86080	0.655000	0.94253	CGG	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076241.2		-	ENST00000376621.3	Missense_Mutation	SNP	6 : 30520942 - 30520942 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	647	27
MUC16	94025	broad.mit.edu	37	19	9054331	9054331	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9054331C>A	ENST00000397910.4	-	4	31494	c.31291G>T	c.(31291-31293)Gaa>Taa	p.E10431*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10433	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						GTGATGTGTTCCATAATGCCA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													251	237	241			NA	NA	19		NA											NA				9054331		1958	4165	6123	SO:0001587	stop_gained			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.31291G>T	19.37:g.9054331C>A	ENSP00000381008:p.Glu10431*	NA	Q6ZQW5|Q96RK2	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	60	48.001481	0.99987	.	.	ENSG00000181143	ENST00000397910	.	.	.	3.25	-4.47	0.03525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.4466	0.16539	0.0:0.2562:0.1717:0.5721	.	.	.	.	X	10431	.	ENSP00000381008:E10431X	E	-	1	0	MUC16	8915331	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.259000	0.08721	-0.925000	0.03775	-0.218000	0.12543	GAA	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Nonsense_Mutation	SNP	19 : 9054331 - 9054331 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	145	24
PLEKHH2	130271	broad.mit.edu	37	2	43939382	43939382	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43939382A>G	ENST00000282406.4	+	15	2430	c.2320A>G	c.(2320-2322)Aca>Gca	p.T774A		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	774	PH 1.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGAAAAACACACATACTATCT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	148	151			NA	NA	2		NA											NA				43939382		2203	4300	6503	SO:0001583	missense			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527	130271	130271		Pleckstrin homology (PH) domain containing	30506	protein-coding gene	gene with protein product		612723			NA		Standard	NM_172069	NM_172069	NA	Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.2320A>G	2.37:g.43939382A>G	ENSP00000282406:p.Thr774Ala	NA	Q5JPJ6|Q6P4Q1|Q8N3Q3	37	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	A	19.82	3.897967	0.72639	.	.	ENSG00000152527	ENST00000282406	T	0.15017	2.46	5.16	5.16	0.70880	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.110415	0.64402	D	0.000007	T	0.34687	0.0906	M	0.83692	2.655	0.44201	D	0.997028	P;B	0.46327	0.876;0.4	P;B	0.49252	0.604;0.173	T	0.28554	-1.0040	10	0.56958	D	0.05	-20.575	14.981	0.71311	1.0:0.0:0.0:0.0	.	774;211	Q8IVE3;Q8IVE3-2	PKHH2_HUMAN;.	A	774	ENSP00000282406:T774A	ENSP00000282406:T774A	T	+	1	0	PLEKHH2	43792886	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.179000	0.58290	1.935000	0.56089	0.377000	0.23210	ACA	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250537.1		+	ENST00000282406.4	Missense_Mutation	SNP	2 : 43939382 - 43939382 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	699	119
C16orf78	123970	broad.mit.edu	37	16	49433071	49433071	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:49433071G>A	ENST00000299191.3	+	5	797	c.680G>A	c.(679-681)cGg>cAg	p.R227Q		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	227										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GAGAACATTCGGACCTTGCTC	0.448		NA											G	1	5e-04	NA	NA	2184	0.0017	0.9999	,	,	NA	3e-04	NA	NA	NA	4e-04	0.8999	LOWCOV	NA	NA	8e-04	SNP								NA				0													128	106	113			NA	NA	16		NA											NA				49433071		2199	4300	6499	SO:0001583	missense			BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152	123970	123970			28479	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_144602	NM_144602	NA	Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.680G>A	16.37:g.49433071G>A	ENSP00000299191:p.Arg227Gln	NA		37	CCDS10738.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.16	1.557611	0.27827	.	.	ENSG00000166152	ENST00000299191	T	0.52983	0.64	5.47	0.731	0.18277	.	1.434460	0.04753	N	0.424991	T	0.41719	0.1171	L	0.54323	1.7	0.09310	N	1	P	0.46952	0.887	B	0.39258	0.295	T	0.36529	-0.9744	9	.	.	.	-25.0095	6.4856	0.22087	0.6281:0.0:0.3719:0.0	.	227	Q8WTQ4	CP078_HUMAN	Q	227	ENSP00000299191:R227Q	.	R	+	2	0	C16orf78	47990572	0.006000	0.16342	0.049000	0.19019	0.561000	0.35649	0.752000	0.26362	0.202000	0.20498	0.561000	0.74099	CGG	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256846.1		+	ENST00000299191.3	Missense_Mutation	SNP	16 : 49433071 - 49433071 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	398	68
CHRNA4	1137	broad.mit.edu	37	20	61981955	61981955	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61981955C>T	ENST00000370263.4	-	5	1029	c.808G>A	c.(808-810)Gag>Aag	p.E270K	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	270					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	TCGCCACACTCGGAGGGCAGG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													244	183	204			NA	NA	20		NA											NA				61981955		2203	4300	6503	SO:0001583	missense				CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204	1137	1137		Cholinergic receptors, Ligand-gated ion channels / Acetylcholine receptors, nicotinic	1958	protein-coding gene	gene with protein product	acetylcholine receptor, nicotinic, alpha 4 (neuronal)	118504	cholinergic receptor, nicotinic, alpha polypeptide 4	EBN, EBN1	NA	1505988	Standard		NM_000744	NA	Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.808G>A	20.37:g.61981955C>T	ENSP00000359285:p.Glu270Lys	NA	Q4JGR7|Q4VAQ6	37	CCDS13517.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290988	0.80914	.	.	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	T	0.72615	-0.67	5.06	4.08	0.47627	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.379961	0.31542	N	0.007480	T	0.70456	0.3226	L	0.55834	1.745	0.53688	D	0.999979	D;P	0.53462	0.96;0.807	P;B	0.46110	0.504;0.208	T	0.74864	-0.3519	10	0.87932	D	0	.	15.1965	0.73096	0.0:0.8582:0.1418:0.0	.	199;270	Q4VAQ5;P43681	.;ACHA4_HUMAN	K	176;270;199	ENSP00000359285:E270K	ENSP00000359280:E176K	E	-	1	0	CHRNA4	61452399	0.999000	0.42202	0.111000	0.21465	0.881000	0.50899	3.987000	0.56944	1.050000	0.40346	0.655000	0.94253	GAG	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080508.3		-	ENST00000370263.4	Missense_Mutation	SNP	20 : 61981955 - 61981955 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	384	62
FAXC	84553	broad.mit.edu	37	6	99781355	99781355	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99781355A>G	ENST00000389677.5	-	3	753	c.471T>C	c.(469-471)gtT>gtC	p.V157V	FAXC_ENST00000538471.1_Intron	NM_032511.2	NP_115900.1	Q5TGI0	CF168_HUMAN	failed axon connections homolog (Drosophila)	157											NA						CTGTGCCAGAAACTTTTTCAT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	71	71			NA	NA	6		NA											NA				99781355		2203	4300	6503	SO:0001819	synonymous_variant			BC011583	CCDS34500.1	6q16.3	2012-02-07	2012-02-07	2012-02-07	ENSG00000146267	ENSG00000146267	84553	84553			20742	protein-coding gene	gene with protein product			chromosome 6 open reading frame 168	C6orf168	NA	12477932	Standard	NM_032511	NM_032511	NA	Approved	MGC2817, dJ273F20	uc003ppj.4	Q5TGI0	OTTHUMG00000015261	ENST00000389677.5:c.471T>C	6.37:g.99781355A>G		NA	B3KU39|Q96F61|Q96LU3|Q9BSS2	37	CCDS34500.1																																																																																			FAXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041589.4		-	ENST00000389677.5	Silent	SNP	6 : 99781355 - 99781355 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	311	76
EFTUD2	9343	broad.mit.edu	37	17	42971886	42971886	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42971886C>A	ENST00000426333.2	-	2	301	c.4G>T	c.(4-6)Gat>Tat	p.D2Y	EFTUD2_ENST00000591382.1_Missense_Mutation_p.D2Y|EFTUD2_ENST00000402521.3_Intron|EFTUD2_ENST00000592576.1_Missense_Mutation_p.D2Y	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	2						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				AAGTCGGTATCCATGATGCTA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(10;65 485 10258 29980 30707)							NA				0													127	116	120			NA	NA	17		NA											NA				42971886		2203	4300	6503	SO:0001583	missense			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883	9343	9343			30858	protein-coding gene	gene with protein product	U5 snRNP specific protein, 116 kD	603892			NA	9233818	Standard	NM_004247	NM_004247	NA	Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.4G>T	17.37:g.42971886C>A	ENSP00000392094:p.Asp2Tyr	NA	D3DX58|Q9BUR0	37	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328628	0.81690	.	.	ENSG00000108883	ENST00000426333;ENST00000262414	T	0.75704	-0.96	5.24	5.24	0.73138	.	0.054873	0.64402	D	0.000001	D	0.87799	0.6268	M	0.91038	3.17	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.61003	0.882;0.882	D	0.90647	0.4579	10	0.87932	D	0	-18.5418	16.6401	0.85069	0.0:1.0:0.0:0.0	.	2;2	B4DMC0;Q15029	.;U5S1_HUMAN	Y	2	ENSP00000392094:D2Y	ENSP00000262414:D2Y	D	-	1	0	EFTUD2	40327412	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.925000	0.75829	2.450000	0.82876	0.555000	0.69702	GAT	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448672.1		-	ENST00000426333.2	Missense_Mutation	SNP	17 : 42971886 - 42971886 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	562	18
XIRP2	129446	broad.mit.edu	37	2	168102560	168102560	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168102560A>C	ENST00000409195.1	+	9	4747	c.4658A>C	c.(4657-4659)aAa>aCa	p.K1553T	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K1331T|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.K1553T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1378					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGAGCATTAAAGAAACCTTA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	51	52			NA	NA	2		NA											NA				168102560		1810	4077	5887	SO:0001583	missense			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092	129446	129446			14303	protein-coding gene	gene with protein product	myomaxin	609778	cardiomyopathy associated 3	CMYA3	NA	17046827, 12203715, 15454575	Standard	NM_152381	NM_001079810	NA	Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.4658A>C	2.37:g.168102560A>C	ENSP00000386840:p.Lys1553Thr	NA	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.868527	0.51588	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03094	4.05;4.05;4.05	5.56	5.56	0.83823	.	0.051031	0.85682	D	0.000000	T	0.14743	0.0356	L	0.56769	1.78	0.48040	D	0.999574	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.963;0.983;0.99	T	0.00409	-1.1757	10	0.48119	T	0.1	-27.2337	14.6939	0.69107	1.0:0.0:0.0:0.0	.	1378;1378;1331	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	T	1553;1553;1331	ENSP00000386840:K1553T;ENSP00000295237:K1553T;ENSP00000387255:K1331T	ENSP00000295237:K1553T	K	+	2	0	XIRP2	167810806	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.966000	0.63715	2.122000	0.65172	0.460000	0.39030	AAA	XIRP2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333547.1		+	ENST00000409195.1	Missense_Mutation	SNP	2 : 168102560 - 168102560 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	424	102
ABCB11	8647	broad.mit.edu	37	2	169792891	169792891	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:169792891A>G	ENST00000263817.6	-	22	2787	c.2663T>C	c.(2662-2664)gTg>gCg	p.V888A		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	888	ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GATCATGGCCACAGTGACGTT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	133	134			NA	NA	2		NA											NA				169792891		2046	4201	6247	SO:0001583	missense			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734	8647	8647		ATP binding cassette transporters / subfamily B	42	protein-coding gene	gene with protein product	ABC member 16, MDR/TAP subfamily	603201	progressive familial intrahepatic cholestasis 2, bile salt export pump	BSEP, PFIC2	NA	9806540	Standard	NM_003742	NM_003742	NA	Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.2663T>C	2.37:g.169792891A>G	ENSP00000263817:p.Val888Ala	NA	Q53TL2|Q9UNB2	37	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	A	13.37	2.217062	0.39201	.	.	ENSG00000073734	ENST00000263817	D	0.88975	-2.45	5.52	5.52	0.82312	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	T	0.76681	0.4021	N	0.04297	-0.235	0.80722	D	1	B;B	0.15141	0.012;0.005	B;B	0.20955	0.032;0.032	T	0.72171	-0.4371	10	0.12430	T	0.62	.	15.6231	0.76824	1.0:0.0:0.0:0.0	.	330;888	B4DZQ8;O95342	.;ABCBB_HUMAN	A	888	ENSP00000263817:V888A	ENSP00000263817:V888A	V	-	2	0	ABCB11	169501137	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	2.734000	0.47368	2.096000	0.63516	0.459000	0.35465	GTG	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333616.2		-	ENST00000263817.6	Missense_Mutation	SNP	2 : 169792891 - 169792891 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	461	111
C15orf26	161502	broad.mit.edu	37	15	81430434	81430434	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81430434G>A	ENST00000286732.4	+	4	518	c.435G>A	c.(433-435)caG>caA	p.Q145Q		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	145										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						GATATGGGCAGGACTTTTGCC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													194	186	188			NA	NA	15		NA											NA				81430434		1901	4128	6029	SO:0001819	synonymous_variant			AK095934	CCDS42068.1	15q25.1	2012-09-10			ENSG00000156206	ENSG00000156206	161502	161502			26782	protein-coding gene	gene with protein product					NA	14702039	Standard	NM_173528	NM_173528	NA	Approved	FLJ38615	uc002bgb.3	Q6P656	OTTHUMG00000172263	ENST00000286732.4:c.435G>A	15.37:g.81430434G>A		NA	Q8N906	37	CCDS42068.1																																																																																			C15orf26-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417587.1		+	ENST00000286732.4	Silent	SNP	15 : 81430434 - 81430434 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	480	42
LSM14A	26065	broad.mit.edu	37	19	34710328	34710328	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34710328C>T	ENST00000540746.2	+	6	809	c.691C>T	c.(691-693)Cgt>Tgt	p.R231C	LSM14A_ENST00000433627.5_Missense_Mutation_p.R272C|LSM14A_ENST00000544216.3_Missense_Mutation_p.R272C			Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	272					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		p.R272C(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					AAGGAGAGGGCGTGGGGGTCA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											68	79	75			NA	NA	19		NA											NA				34710328		2203	4300	6503	SO:0001583	missense			AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103	26065	26065			24489	protein-coding gene	gene with protein product		610677	chromosome 19 open reading frame 13, family with sequence similarity 61, member A, LSM14 homolog A (SCD6, S. cerevisiae)	C19orf13, FAM61A	NA	12477932	Standard	NM_015578	NM_015578	NA	Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000540746.2:c.691C>T	19.37:g.34710328C>T	ENSP00000446451:p.Arg231Cys	NA	Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	37		.	.	.	.	.	.	.	.	.	.	c	16.68	3.190986	0.58017	.	.	ENSG00000257103	ENST00000544216;ENST00000433627;ENST00000540746	T;T;T	0.38401	1.18;1.16;1.14	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.61850	0.2380	M	0.80746	2.51	0.80722	D	1	B;D;B	0.89917	0.362;1.0;0.263	B;D;B	0.79784	0.117;0.993;0.051	T	0.62548	-0.6831	10	0.48119	T	0.1	-10.3844	14.8295	0.70137	0.1438:0.8562:0.0:0.0	.	231;272;272	B4DTG6;Q8ND56;Q8ND56-2	.;LS14A_HUMAN;.	C	272;272;231	ENSP00000446271:R272C;ENSP00000413964:R272C;ENSP00000446451:R231C	ENSP00000314768:R272C	R	+	1	0	LSM14A	39402168	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.529000	0.60588	2.734000	0.93682	0.655000	0.94253	CGT	LSM14A-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000451575.2		+	ENST00000540746.2	Missense_Mutation	SNP	19 : 34710328 - 34710328 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	698	97
FAM135A	57579	broad.mit.edu	37	6	71235308	71235308	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:71235308A>C	ENST00000505769.1	+	15	1926				FAM135A_ENST00000361499.3_Missense_Mutation_p.N645H|FAM135A_ENST00000457062.2_Missense_Mutation_p.N628H|FAM135A_ENST00000418814.2_Missense_Mutation_p.N841H|FAM135A_ENST00000370479.3_Missense_Mutation_p.N628H|FAM135A_ENST00000505868.1_Missense_Mutation_p.N841H			Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	NA										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						GACATCCATAAACTCTCTACC	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	51	51			NA	NA	6		NA											NA				71235308		2202	4295	6497	SO:0001627	intron_variant			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269	57579	57579			21084	protein-coding gene	gene with protein product			KIAA1411	KIAA1411	NA	10718198	Standard	NM_020819	NM_001105531	NA	Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000505769.1:c.1520-259A>C	6.37:g.71235308A>C		NA	A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	37		.	.	.	.	.	.	.	.	.	.	A	16.84	3.234751	0.58886	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.57344	0.2047	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.998;0.999	T	0.59663	-0.7412	10	0.51188	T	0.08	.	16.4696	0.84102	1.0:0.0:0.0:0.0	.	841;841;645;628	Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;F135A_HUMAN;.;.	H	841;628;628;645;841	ENSP00000410768:N841H;ENSP00000359510:N628H;ENSP00000409201:N628H;ENSP00000354913:N645H;ENSP00000423307:N841H	ENSP00000354913:N645H	N	+	1	0	FAM135A	71292029	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	8.843000	0.92142	2.289000	0.77006	0.482000	0.46254	AAC	FAM135A-004	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000360643.1		+	ENST00000505769.1	Intron	SNP	6 : 71235308 - 71235308 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	191	46
PHC2	1912	broad.mit.edu	37	1	33794638	33794638	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33794638G>T	ENST00000257118.5	-	13	2308	c.2255C>A	c.(2254-2256)cCc>cAc	p.P752H	PHC2_ENST00000373422.3_Missense_Mutation_p.P358H|PHC2_ENST00000419414.2_Missense_Mutation_p.P753H|PHC2_ENST00000373416.1_Missense_Mutation_p.P217H|PHC2_ENST00000431992.1_Missense_Mutation_p.P723H|PHC2_ENST00000373418.3_Missense_Mutation_p.P217H|PHC2_ENST00000485928.1_5'UTR	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	752					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGCTGAGATGGGTGACAAGGG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	98	101			NA	NA	1		NA											NA				33794638		2203	4300	6503	SO:0001583	missense			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686	1912	1912		Sterile alpha motif (SAM) domain containing	3183	protein-coding gene	gene with protein product		602979	early development regulator 2 (homolog of polyhomeotic 2), polyhomeotic-like 2 (Drosophila)	EDR2	NA	9121482, 12384788	Standard	NM_198040	NM_198040	NA	Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.2255C>A	1.37:g.33794638G>T	ENSP00000257118:p.Pro752His	NA	A1L4Q1|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	37	CCDS378.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852429	0.91355	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000373422;ENST00000373418;ENST00000307890;ENST00000419414;ENST00000373416	T;T;T;T	0.55413	1.52;1.07;0.52;1.5	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.68961	0.3058	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.76494	0.995;0.995;0.995;0.999	P;P;P;D	0.66497	0.816;0.816;0.816;0.944	T	0.69525	-0.5122	10	0.66056	D	0.02	-19.8649	17.6713	0.88218	0.0:0.0:1.0:0.0	.	753;724;752;167	A8KA40;B7ZLY0;Q8IXK0;Q8IXK0-3	.;.;PHC2_HUMAN;.	H	723;752;358;217;329;753;217	ENSP00000389436:P723H;ENSP00000257118:P752H;ENSP00000362521:P358H;ENSP00000391440:P753H	ENSP00000257118:P752H	P	-	2	0	PHC2	33567225	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.128000	0.94424	2.771000	0.95319	0.561000	0.74099	CCC	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000011895.1		-	ENST00000257118.5	Missense_Mutation	SNP	1 : 33794638 - 33794638 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	579	47
GPAM	57678	broad.mit.edu	37	10	113917132	113917132	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:113917132C>A	ENST00000348367.4	-	19	2193	c.1996G>T	c.(1996-1998)Gat>Tat	p.D666Y	GPAM_ENST00000369425.1_Missense_Mutation_p.D666Y|GPAM_ENST00000423155.1_Missense_Mutation_p.D666Y			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	666					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		GGACTGATATCTTCCTGGTCA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(161;1017 2606 18293 52943)							NA				0													119	98	105			NA	NA	10		NA											NA				113917132		2203	4300	6503	SO:0001583	missense			AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927	57678	57678			24865	protein-coding gene	gene with protein product	glycerol-3-phosphate acyltransferase 1, mitochondrial	602395			NA	10997877, 8369314	Standard	NM_020918	NM_020918	NA	Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.1996G>T	10.37:g.113917132C>A	ENSP00000265276:p.Asp666Tyr	NA	Q5VW51|Q86TA3	37	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798844	0.90538	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	T;T;T	0.69806	-0.43;-0.43;-0.42	5.63	5.63	0.86233	.	0.163773	0.53938	D	0.000052	T	0.76513	0.3998	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.64042	0.921;0.888	T	0.73014	-0.4116	10	0.35671	T	0.21	-16.7223	18.2342	0.89944	0.0:1.0:0.0:0.0	.	666;666	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	Y	666	ENSP00000265276:D666Y;ENSP00000409242:D666Y;ENSP00000358433:D666Y	ENSP00000265276:D666Y	D	-	1	0	GPAM	113907122	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	6.912000	0.75753	2.808000	0.96608	0.655000	0.94253	GAT	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050377.1		-	ENST00000348367.4	Missense_Mutation	SNP	10 : 113917132 - 113917132 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	319	60
BCAR3	8412	broad.mit.edu	37	1	94140364	94140364	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94140364G>T	ENST00000370244.1	-	4	411	c.123C>A	c.(121-123)gcC>gcA	p.A41A	BCAR3_ENST00000260502.6_Silent_p.A41A|BCAR3_ENST00000370243.1_Silent_p.A41A	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	41					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CATCTTGATAGGCATCTGGGC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	70	72			NA	NA	1		NA											NA				94140364		2203	4300	6503	SO:0001819	synonymous_variant			U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936	8412	8412		SH2 domain containing	973	protein-coding gene	gene with protein product		604704			NA	9582273	Standard		NM_001261408	NA	Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.123C>A	1.37:g.94140364G>T		NA	D3DT43|Q6UW40|Q9BR50	37	CCDS745.1																																																																																			BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000028420.1		-	ENST00000370244.1	Silent	SNP	1 : 94140364 - 94140364 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	219	49
PHYH	5264	broad.mit.edu	37	10	13330532	13330532	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13330532G>A	ENST00000396920.3	-	6	859	c.455C>T	c.(454-456)aCg>aTg	p.T152M	PHYH_ENST00000263038.4_Missense_Mutation_p.T169M|PHYH_ENST00000396913.2_Missense_Mutation_p.T69M			O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	169					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	GTGACGGGACGTCTTCTTGCC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	74	74			NA	NA	10		NA											NA				13330532		2203	4300	6503	SO:0001583	missense				CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	5264	5264	1.14.11.18		8940	protein-coding gene	gene with protein product	Refsum disease, phytanoyl-CoA dioxygenase	602026	phytanoyl-CoA hydroxylase (Refsum disease), phytanoyl-CoA hydroxylase		NA	9326939	Standard		XM_005252469	NA	Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000396920.3:c.455C>T	10.37:g.13330532G>A	ENSP00000380126:p.Thr152Met	NA	B1ALH5	37		.	.	.	.	.	.	.	.	.	.	G	21.6	4.176313	0.78564	.	.	ENSG00000107537	ENST00000396913;ENST00000263038;ENST00000396920;ENST00000453759;ENST00000479604	D;D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85;-2.85	5.8	4.89	0.63831	.	0.046113	0.85682	D	0.000000	D	0.95762	0.8621	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.988;0.994	D	0.96017	0.9006	10	0.87932	D	0	-23.7368	11.1462	0.48432	0.0:0.254:0.6126:0.1333	.	152;169	B1ALH6;O14832	.;PAHX_HUMAN	M	69;169;152;69;171	ENSP00000380121:T69M;ENSP00000263038:T169M;ENSP00000380126:T152M;ENSP00000412525:T69M;ENSP00000420117:T171M	ENSP00000263038:T169M	T	-	2	0	PHYH	13370538	1.000000	0.71417	0.973000	0.42090	0.956000	0.61745	5.212000	0.65225	1.444000	0.47605	0.655000	0.94253	ACG	PHYH-005	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000277005.1		-	ENST00000396920.3	Missense_Mutation	SNP	10 : 13330532 - 13330532 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	18
MN1	4330	broad.mit.edu	37	22	28196327	28196327	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28196327C>T	ENST00000302326.4	-	1	1159	c.205G>A	c.(205-207)Ggc>Agc	p.G69S		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	69							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GCGTGGAAGCCGTAGGGCTCC	0.701		NA	T	ETV6	AML, meningioma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		L, O	0													29	34	33			NA	NA	22		NA											NA				28196327		1952	4121	6073	SO:0001583	missense			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184	4330	4330			7180	protein-coding gene	gene with protein product	probable tumor suppressor protein MN1	156100	meningioma chromosome region	MGCR	NA	7731706, 12569362	Standard	NM_002430	NM_002430	NA	Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.205G>A	22.37:g.28196327C>T	ENSP00000304956:p.Gly69Ser	NA	A9Z1V9	37	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697807	0.88830	.	.	ENSG00000169184	ENST00000302326	T	0.72725	-0.68	4.87	4.87	0.63330	.	0.060842	0.64402	D	0.000004	T	0.75191	0.3816	L	0.29908	0.895	0.53688	D	0.99997	D	0.76494	0.999	D	0.63033	0.91	T	0.78947	-0.2003	10	0.87932	D	0	-15.6058	16.9428	0.86222	0.0:1.0:0.0:0.0	.	69	Q10571	MN1_HUMAN	S	69	ENSP00000304956:G69S	ENSP00000304956:G69S	G	-	1	0	MN1	26526327	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.882000	0.63121	2.400000	0.81607	0.561000	0.74099	GGC	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320737.1		-	ENST00000302326.4	Missense_Mutation	SNP	22 : 28196327 - 28196327 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	385	77
CDCA8	55143	broad.mit.edu	37	1	38168953	38168953	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38168953C>T	ENST00000373055.1	+	7	791	c.518C>T	c.(517-519)gCc>gTc	p.A173V	CDCA8_ENST00000327331.2_Missense_Mutation_p.A173V	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	173					cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTTACCCCAGCCGTGGGCCGA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													196	175	182			NA	NA	1		NA											NA				38168953		2203	4300	6503	SO:0001583	missense			BG354581	CCDS424.1	1p34.3	2013-01-17			ENSG00000134690	ENSG00000134690	55143	55143			14629	protein-coding gene	gene with protein product	borealin	609977			NA	12188893, 15260989	Standard	NM_018101	NM_001256875	NA	Approved	FLJ12042, MESRGP, BOR, DasraB	uc001cbs.4	Q53HL2	OTTHUMG00000004320	ENST00000373055.1:c.518C>T	1.37:g.38168953C>T	ENSP00000362146:p.Ala173Val	NA	D3DPT4|Q53HN1|Q96AM3|Q9NVW5	37	CCDS424.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444363	0.63178	.	.	ENSG00000134690	ENST00000373055;ENST00000327331	T;T	0.61627	0.09;0.09	5.81	5.81	0.92471	.	0.051856	0.85682	D	0.000000	T	0.71710	0.3372	L	0.54323	1.7	0.52501	D	0.99995	D	0.69078	0.997	D	0.80764	0.994	T	0.71573	-0.4552	10	0.54805	T	0.06	-11.3016	15.5657	0.76290	0.0:1.0:0.0:0.0	.	173	Q53HL2	BOREA_HUMAN	V	173	ENSP00000362146:A173V;ENSP00000316121:A173V	ENSP00000316121:A173V	A	+	2	0	CDCA8	37941540	0.973000	0.33851	0.982000	0.44146	0.059000	0.15707	3.905000	0.56333	2.735000	0.93741	0.637000	0.83480	GCC	CDCA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000012473.1		+	ENST00000373055.1	Missense_Mutation	SNP	1 : 38168953 - 38168953 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	820	77
CUL4B	8450	broad.mit.edu	37	X	119674407	119674407	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119674407C>A	ENST00000371322.5	-	11	1515	c.1454G>T	c.(1453-1455)aGc>aTc	p.S485I	CUL4B_ENST00000404115.3_Missense_Mutation_p.S503I|CUL4B_ENST00000336592.6_Missense_Mutation_p.S490I	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	503				G -> D (in Ref. 4; CAD97843).	cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TACAATAGTGCTGCCAAATGC	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	48	49			NA	NA	X		NA											NA				119674407		2201	4294	6495	SO:0001583	missense			U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290	8450	8450			2555	protein-coding gene	gene with protein product		300304			NA	8681378	Standard	NM_003588	NM_003588	NA	Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000371322.5:c.1454G>T	X.37:g.119674407C>A	ENSP00000360373:p.Ser485Ile	NA	B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	37	CCDS43987.1	.	.	.	.	.	.	.	.	.	.	C	7.939	0.742296	0.15642	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.73575	-0.76;-0.76;-0.76	5.42	4.55	0.56014	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.65144	0.2663	L	0.33710	1.025	0.80722	D	1	B;P;P	0.35684	0.004;0.515;0.459	B;B;B	0.37015	0.015;0.239;0.154	T	0.60642	-0.7223	9	.	.	.	-10.2043	14.4351	0.67274	0.0:0.8559:0.1441:0.0	.	307;503;485	Q13620-3;Q13620;Q13620-1	.;CUL4B_HUMAN;.	I	485;490;503	ENSP00000360373:S485I;ENSP00000338919:S490I;ENSP00000384109:S503I	.	S	-	2	0	CUL4B	119558435	1.000000	0.71417	0.993000	0.49108	0.116000	0.19942	5.954000	0.70298	1.055000	0.40461	-0.346000	0.07831	AGC	CUL4B-003	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058105.1		-	ENST00000371322.5	Missense_Mutation	SNP	X : 119674407 - 119674407 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	143	40
TCHH	7062	broad.mit.edu	37	1	152080181	152080181	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152080181G>A	ENST00000368804.1	-	2	5511	c.5512C>T	c.(5512-5514)Cgg>Tgg	p.R1838W		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1838	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGCTCCTGCCGCAGCCTCTGC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	64	62			NA	NA	1		NA											NA				152080181		2077	4207	6284	SO:0001583	missense			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450	7062	7062		EF-hand domain containing	11791	protein-coding gene	gene with protein product		190370		THH	NA	1431214	Standard	NM_007113	NM_007113	NA	Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.5512C>T	1.37:g.152080181G>A	ENSP00000357794:p.Arg1838Trp	NA	Q5VUI3	37	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.526451	0.27299	.	.	ENSG00000159450	ENST00000368804	T	0.10960	2.82	4.6	1.42	0.22433	.	.	.	.	.	T	0.05364	0.0142	L	0.58101	1.795	0.09310	N	1	D	0.57899	0.981	B	0.41466	0.358	T	0.20306	-1.0279	9	0.51188	T	0.08	-14.4328	13.2874	0.60251	0.0:0.0:0.4975:0.5025	.	1838	Q07283	TRHY_HUMAN	W	1838	ENSP00000357794:R1838W	ENSP00000357794:R1838W	R	-	1	2	TCHH	150346805	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.485000	0.22324	0.030000	0.15379	-2.281000	0.00270	CGG	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000036671.2		-	ENST00000368804.1	Missense_Mutation	SNP	1 : 152080181 - 152080181 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	551	96
GPR39	2863	broad.mit.edu	37	2	133402986	133402986	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133402986G>A	ENST00000329321.3	+	2	1638	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	390			R -> C (in dbSNP:rs16838944).			integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTGTGCAGCGCCCGTTGCTC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	43	43			NA	NA	2		NA											NA				133402986		2203	4300	6503	SO:0001583	missense			AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840	2863	2863		GPCR / Class A : Orphans	4496	protein-coding gene	gene with protein product		602886			NA	9441746	Standard		NM_001508	NA	Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.1169G>A	2.37:g.133402986G>A	ENSP00000327417:p.Arg390His	NA	B2RC12|B6V9G4|Q08AS2|Q53R01	37	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626000	0.46840	.	.	ENSG00000183840	ENST00000329321	T	0.65549	-0.16	5.15	5.15	0.70609	.	3.095510	0.01007	N	0.003779	T	0.78534	0.4298	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	P	0.54965	0.765	T	0.65990	-0.6034	10	0.66056	D	0.02	.	18.8727	0.92322	0.0:0.0:1.0:0.0	.	390	O43194	GPR39_HUMAN	H	390	ENSP00000327417:R390H	ENSP00000327417:R390H	R	+	2	0	GPR39	133119456	1.000000	0.71417	0.994000	0.49952	0.018000	0.09664	2.018000	0.40991	2.692000	0.91855	0.650000	0.86243	CGC	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254582.1		+	ENST00000329321.3	Missense_Mutation	SNP	2 : 133402986 - 133402986 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	447	45
PM20D2	135293	broad.mit.edu	37	6	89868116	89868116	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:89868116G>A	ENST00000275072.4	+	5	1080	c.985G>A	c.(985-987)Gaa>Aaa	p.E329K		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	329							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		AGCCTATATGGAAAATGGAAG	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	106	103			NA	NA	6		NA											NA				89868116		2203	4299	6502	SO:0001583	missense			BC035036	CCDS34499.1	6q15	2014-07-14	2007-11-14	2007-11-14	ENSG00000146281	ENSG00000146281	135293	135293			21408	protein-coding gene	gene with protein product	&				NA					NA									NA		NA																																																																																								NA									0	0
KCNQ5	56479	broad.mit.edu	37	6	73879480	73879480	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:73879480C>T	ENST00000342056.2	+	12	1935	c.1537C>T	c.(1537-1539)Ctt>Ttt	p.L513F	KCNQ5_ENST00000355635.3_Missense_Mutation_p.L495F|KCNQ5_ENST00000355194.4_Missense_Mutation_p.L494F|KCNQ5_ENST00000403813.2_Missense_Mutation_p.L485F|KCNQ5_ENST00000402622.2_Missense_Mutation_p.L504F|KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000370398.1_Missense_Mutation_p.L494F	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	494					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TGACACAGCCCTTGGCACTGA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(142;1375 1859 14391 23261 44706)							NA				0													146	121	130			NA	NA	6		NA											NA				73879480		2203	4300	6503	SO:0001583	missense			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760	56479	56479		Potassium channels, Voltage-gated ion channels / Potassium channels	6299	protein-coding gene	gene with protein product		607357			NA	10787416, 10816588, 16382104	Standard	NM_019842	NM_019842	NA	Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000342056.2:c.1537C>T	6.37:g.73879480C>T	ENSP00000345055:p.Leu513Phe	NA	B5MC83|B7ZL37|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	37	CCDS55034.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995844	0.74703	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813	D;D;D;D;D;D	0.99637	-6.29;-6.29;-6.29;-6.29;-6.29;-6.29	5.46	5.46	0.80206	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.156361	0.44285	D	0.000465	D	0.99174	0.9714	L	0.52573	1.65	0.80722	D	1	D;P;P;D	0.58970	0.957;0.599;0.739;0.984	P;B;B;D	0.67103	0.822;0.27;0.382;0.949	D	0.99960	1.1712	10	0.09590	T	0.72	.	19.295	0.94118	0.0:1.0:0.0:0.0	.	504;513;485;494	Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;KCNQ5_HUMAN	F	513;513;494;494;504;495;485	ENSP00000345055:L513F;ENSP00000347326:L494F;ENSP00000359425:L494F;ENSP00000385501:L504F;ENSP00000347853:L495F;ENSP00000384453:L485F	ENSP00000345055:L513F	L	+	1	0	KCNQ5	73936201	0.998000	0.40836	0.969000	0.41365	0.965000	0.64279	4.120000	0.57897	2.726000	0.93360	0.655000	0.94253	CTT	KCNQ5-006	NOVEL	not_organism_supported|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316124.1		+	ENST00000342056.2	Missense_Mutation	SNP	6 : 73879480 - 73879480 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	312	50
KLRC3	3823	broad.mit.edu	37	12	10568293	10568293	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10568293T>G	ENST00000381903.2	-	6	687	c.688A>C	c.(688-690)Agc>Cgc	p.S230R	NKG2-E_ENST00000539033.1_Intron|KLRC3_ENST00000396439.2_Intron|KLRC3_ENST00000381904.2_Intron	NM_007333.2	NP_031359.2			killer cell lectin-like receptor subfamily C, member 3	NA										large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						ATTCTAAAGCTTATGCTCACA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	91	96			NA	NA	12		NA											NA				10568293		2203	4300	6503	SO:0001583	missense			L14542	CCDS31744.1, CCDS41755.1	12p13	2008-08-05			ENSG00000205810	ENSG00000205810	3823	3823		Killer cell lectin-like receptors	6376	protein-coding gene	gene with protein product		602892			NA	9598306	Standard	NM_002261	NM_002261	NA	Approved	NKG2-E	uc001qyi.1	Q07444	OTTHUMG00000167149	ENST00000381903.2:c.688A>C	12.37:g.10568293T>G	ENSP00000371328:p.Ser230Arg	NA		37	CCDS31744.1	.	.	.	.	.	.	.	.	.	.	T	11.85	1.762789	0.31228	.	.	ENSG00000205810	ENST00000381903	T	0.01685	4.69	2.48	-0.255	0.12988	.	.	.	.	.	T	0.01421	0.0046	.	.	.	0.09310	N	1	B	0.26041	0.14	B	0.28849	0.095	T	0.48958	-0.8988	8	0.29301	T	0.29	.	5.0732	0.14617	0.4911:0.0:0.0:0.5089	.	230	Q07444-2	.	R	230	ENSP00000371328:S230R	ENSP00000371328:S230R	S	-	1	0	KLRC3	10459560	0.003000	0.15002	0.000000	0.03702	0.024000	0.10985	2.003000	0.40844	-0.061000	0.13110	-0.503000	0.04515	AGC	KLRC3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393474.1		-	ENST00000381903.2	Missense_Mutation	SNP	12 : 10568293 - 10568293 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	240	41
FKBP6	8468	broad.mit.edu	37	7	72754785	72754785	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72754785C>A	ENST00000252037.4	+	6	803	c.734C>A	c.(733-735)gCt>gAt	p.A245D	FKBP6_ENST00000431982.2_Missense_Mutation_p.A240D|FKBP6_ENST00000413573.2_Missense_Mutation_p.A215D	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	245					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				GGAGAGCAGGCTTTGATCATT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	77	77			NA	NA	7		NA											NA				72754785		1946	4147	6093	SO:0001583	missense			AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800	8468	8468			3722	protein-coding gene	gene with protein product	FK506 binding protein 6 (36kD), peptidylprolyl cis-trans isomerase, rotamase, immunophilin FKBP36	604839	FK506-binding protein 6 (36kD)		NA	9782077, 19001379	Standard	NM_003602	NM_003602	NA	Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.734C>A	7.37:g.72754785C>A	ENSP00000252037:p.Ala245Asp	NA	Q9UDS0	37	CCDS43595.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204249	0.79127	.	.	ENSG00000077800	ENST00000431982;ENST00000442793;ENST00000413573;ENST00000252037	D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52	4.91	4.91	0.64330	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.90899	0.7140	M	0.88450	2.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.987;0.996	D	0.92672	0.6151	10	0.87932	D	0	-9.8292	15.2625	0.73634	0.0:1.0:0.0:0.0	.	240;245;215	O75344-2;O75344;Q7Z4T4	.;FKBP6_HUMAN;.	D	240;200;215;245	ENSP00000416277:A240D;ENSP00000402360:A200D;ENSP00000394952:A215D;ENSP00000252037:A245D	ENSP00000252037:A245D	A	+	2	0	FKBP6	72392721	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	5.971000	0.70440	2.284000	0.76573	0.563000	0.77884	GCT	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318723.1		+	ENST00000252037.4	Missense_Mutation	SNP	7 : 72754785 - 72754785 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	339	31
C3	718	broad.mit.edu	37	19	6684598	6684598	+	Missense_Mutation	SNP	C	C	A	rs74722736		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6684598C>A	ENST00000245907.6	-	32	4185	c.4093G>T	c.(4093-4095)Gtc>Ttc	p.V1365F		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1365					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TTTATGGTGACCTTGAGGTCG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													285	244	258			NA	NA	19		NA											NA				6684598		2203	4300	6503	SO:0001583	missense			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	718	718	3.4.21.43	Complement system, Endogenous ligands	1318	protein-coding gene	gene with protein product	C3a anaphylatoxin, complement component C3a, complement component C3b, prepro-C3	120700			NA		Standard	NM_000064	NM_000064	NA	Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4093G>T	19.37:g.6684598C>A	ENSP00000245907:p.Val1365Phe	NA	A7E236	37	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669874	0.67814	.	.	ENSG00000125730	ENST00000245907	T	0.35236	1.32	5.41	4.37	0.52481	Alpha-macroglobulin, receptor-binding (2);	0.126503	0.52532	D	0.000067	T	0.65144	0.2663	M	0.91038	3.17	0.18873	N	0.999985	D	0.89917	1.0	D	0.72338	0.977	T	0.62338	-0.6875	10	0.56958	D	0.05	.	12.0112	0.53289	0.0:0.9154:0.0:0.0846	.	1365	P01024	CO3_HUMAN	F	1365	ENSP00000245907:V1365F	ENSP00000245907:V1365F	V	-	1	0	C3	6635598	0.348000	0.24861	0.020000	0.16555	0.214000	0.24535	2.073000	0.41519	1.413000	0.46997	0.580000	0.79431	GTC	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317636.2		-	ENST00000245907.6	Missense_Mutation	SNP	19 : 6684598 - 6684598 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	729	128
MARCO	8685	broad.mit.edu	37	2	119699912	119699912	+	Translation_Start_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:119699912C>A	ENST00000327097.4	+	1	171	c.36C>A	c.(34-36)ctC>ctA	p.L12L	MARCO_ENST00000541757.1_De_novo_Start_OutOfFrame	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	12					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.L12L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGGACGAGCTCTTGAGTGAGA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(8;18 374 7467 11269 32796)							NA				1	Substitution - coding silent(1)	lung(1)											96	96	96			NA	NA	2		NA											NA				119699912		2203	4300	6503	SO:0001819	synonymous_variant			AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169	8685	8685			6895	protein-coding gene	gene with protein product	scavenger receptor class A, member 2	604870			NA	9468508, 7867067, 10331948	Standard	NM_006770	NM_006770	NA	Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.36C>A	2.37:g.119699912C>A		NA	Q9Y5S3	37	CCDS2124.1																																																																																			MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254190.2		+	ENST00000327097.4	Silent	SNP	2 : 119699912 - 119699912 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	441	127
CYB5RL	606495	broad.mit.edu	37	1	54640324	54640324	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54640324C>T	ENST00000534324.1	-	6	915	c.916G>A	c.(916-918)Ggc>Agc	p.G306S	CYB5RL_ENST00000401046.3_Missense_Mutation_p.G158S|RP11-446E24.4_ENST00000311841.7_Intron|CYB5RL_ENST00000287899.8_Missense_Mutation_p.G238S|CYB5RL_ENST00000542737.1_Missense_Mutation_p.G306S|CYB5RL_ENST00000419823.2_Missense_Mutation_p.G306S|CYB5RL_ENST00000537208.1_Missense_Mutation_p.G238S			Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	306							cytochrome-b5 reductase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						TCAGTGAGGCCTGCGCACAGT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	41	40			NA	NA	1		NA											NA				54640324		1987	4173	6160	SO:0001583	missense				CCDS44151.1	1p32.3	2011-04-08			ENSG00000215883	ENSG00000215883	606495	606495			32220	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_001031672	NM_001031672	NA	Approved	LOC606495	uc009vzo.3	Q6IPT4	OTTHUMG00000008082	ENST00000534324.1:c.916G>A	1.37:g.54640324C>T	ENSP00000434343:p.Gly306Ser	NA	B7ZBS4|Q8NF25	37	CCDS44151.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.936381	0.92458	.	.	ENSG00000215883	ENST00000419823;ENST00000401046;ENST00000534324;ENST00000287899;ENST00000542737;ENST00000537208	D;D;D;D;D;D	0.96619	-2.78;-4.07;-2.78;-2.96;-2.78;-2.96	5.14	5.14	0.70334	.	0.000000	0.39544	U	0.001321	D	0.96210	0.8764	N	0.24115	0.695	0.49915	D	0.999838	D;D	0.89917	0.999;1.0	D;D	0.74674	0.921;0.984	D	0.96630	0.9466	10	0.54805	T	0.06	-19.7195	16.9666	0.86287	0.0:1.0:0.0:0.0	.	306;158	Q6IPT4;Q6IPT4-3	NB5R5_HUMAN;.	S	306;158;306;238;306;238	ENSP00000409075:G306S;ENSP00000383825:G158S;ENSP00000434343:G306S;ENSP00000287899:G238S;ENSP00000438151:G306S;ENSP00000443797:G238S	ENSP00000287899:G238S	G	-	1	0	CYB5RL	54412912	0.999000	0.42202	0.960000	0.40013	0.863000	0.49368	5.162000	0.64942	2.672000	0.90937	0.555000	0.69702	GGC	CYB5RL-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388318.1		-	ENST00000534324.1	Missense_Mutation	SNP	1 : 54640324 - 54640324 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	93	5
LAMB2	3913	broad.mit.edu	37	3	49162549	49162549	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49162549C>T	ENST00000418109.1	-	21	2938	c.2774G>A	c.(2773-2775)cGg>cAg	p.R925Q	LAMB2_ENST00000464891.1_5'UTR|LAMB2_ENST00000305544.4_Missense_Mutation_p.R925Q	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	925	Laminin EGF-like 8.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGGACAGGGCCGGCACTGGCC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	37	37			NA	NA	3		NA											NA				49162549		2203	4300	6503	SO:0001583	missense				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037	3913	3913		Laminins	6487	protein-coding gene	gene with protein product	laminin S	150325		LAMS	NA	2922051, 10393422	Standard	NM_002292	NM_002292	NA	Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.2774G>A	3.37:g.49162549C>T	ENSP00000388325:p.Arg925Gln	NA	Q16321	37	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	C	32	5.147415	0.94603	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.62788	0.0;0.0	5.98	5.98	0.97165	EGF-like, laminin (2);	0.058682	0.64402	D	0.000002	T	0.70570	0.3239	L	0.35542	1.07	0.80722	D	1	D	0.89917	1.0	D	0.64506	0.926	T	0.65236	-0.6217	10	0.31617	T	0.26	.	20.4561	0.99145	0.0:1.0:0.0:0.0	.	925	P55268	LAMB2_HUMAN	Q	925	ENSP00000388325:R925Q;ENSP00000307156:R925Q	ENSP00000307156:R925Q	R	-	2	0	LAMB2	49137553	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.031000	0.57267	2.847000	0.97988	0.591000	0.81541	CGG	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345939.1		-	ENST00000418109.1	Missense_Mutation	SNP	3 : 49162549 - 49162549 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	71
MCTP2	55784	broad.mit.edu	37	15	95013650	95013650	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:95013650C>T	ENST00000357742.4	+	20	2449	c.2449C>T	c.(2449-2451)Cgg>Tgg	p.R817W	MCTP2_ENST00000451018.3_Missense_Mutation_p.R762W	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	817					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CATTCCACTGCGGTACATCAT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TRP/ARG,TRP/ARG	0,4394		0,0,2197	173	162	166		2284,2449	5.3	1	15		166	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	MCTP2	NM_001159643.1,NM_018349.3	101,101	0,1,6494	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging	762/824,817/879	95013650	1,12989	2197	4298	6495	SO:0001583	missense			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563	55784	55784			25636	protein-coding gene	gene with protein product					NA	15528213	Standard	NM_018349	NM_018349	NA	Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.2449C>T	15.37:g.95013650C>T	ENSP00000350377:p.Arg817Trp	NA	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	37	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052804	0.75960	0.0	1.16E-4	ENSG00000140563	ENST00000451018;ENST00000357742	T;T	0.78003	-1.14;-0.56	5.32	5.32	0.75619	Phosphoribosyltransferase C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89361	0.6693	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90842	0.4724	10	0.87932	D	0	.	12.5357	0.56140	0.2773:0.7227:0.0:0.0	.	762;817	Q6DN12-2;Q6DN12	.;MCTP2_HUMAN	W	762;817	ENSP00000395109:R762W;ENSP00000350377:R817W	ENSP00000350377:R817W	R	+	1	2	MCTP2	92814654	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.820000	0.55693	2.645000	0.89757	0.650000	0.86243	CGG	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415060.3		+	ENST00000357742.4	Missense_Mutation	SNP	15 : 95013650 - 95013650 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	656	95
MAP10	54627	broad.mit.edu	37	1	232940995	232940995	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232940995C>T	ENST00000418460.1	+	1	353	c.226C>T	c.(226-228)Cac>Tac	p.H76Y		NM_019090.2	NP_061963.2			microtubule-associated protein 10	NA											NA						AAAAACGGCTCACAAGTATGC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	114	113			NA	NA	1		NA											NA				232940995		1960	4154	6114	SO:0001583	missense			AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916	54627	54627			29265	protein-coding gene	gene with protein product	microtubule regulator 120 KDa		KIAA1383	KIAA1383	NA	23264731	Standard	NM_019090	NM_019090	NA	Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.226C>T	1.37:g.232940995C>T	ENSP00000403208:p.His76Tyr	NA		37	CCDS44334.1	.	.	.	.	.	.	.	.	.	.	C	8.761	0.923593	0.18056	.	.	ENSG00000212916	ENST00000418460	.	.	.	1.97	-2.99	0.05497	.	.	.	.	.	T	0.16854	0.0405	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33548	-0.9864	5	0.11485	T	0.65	.	7.8487	0.29442	0.0:0.6329:0.0:0.3671	.	.	.	.	Y	76	.	ENSP00000403208:H76Y	H	+	1	0	KIAA1383	231007618	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.729000	0.04920	-1.098000	0.03038	-1.786000	0.00637	CAC	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092317.3		+	ENST00000418460.1	Missense_Mutation	SNP	1 : 232940995 - 232940995 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	562	101
USH2A	7399	broad.mit.edu	37	1	216465665	216465665	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216465665A>C	ENST00000307340.3	-	10	2078	c.1692T>G	c.(1690-1692)ggT>ggG	p.G564G	USH2A_ENST00000366943.2_Silent_p.G564G|USH2A_ENST00000366942.3_Silent_p.G564G	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	564	Laminin EGF-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAACTTGATCACCTTGGCGGA	0.383		NA								HNSCC(13;0.011)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	94	96			NA	NA	1		NA											NA				216465665		2203	4300	6503	SO:0001819	synonymous_variant			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781	7399	7399		Fibronectin type III domain containing	12601	protein-coding gene	gene with protein product	usherin	608400		USH2	NA	9624053, 10729113	Standard	NM_007123	NM_007123	NA	Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1692T>G	1.37:g.216465665A>C		NA	Q5VVM9|Q6S362|Q9NS27	37	CCDS31025.1																																																																																			USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128138.1		-	ENST00000307340.3	Silent	SNP	1 : 216465665 - 216465665 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	431	29
TBX10	347853	broad.mit.edu	37	11	67401799	67401799	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67401799G>A	ENST00000335385.3	-	4	497	c.410C>T	c.(409-411)gCg>gTg	p.A137V		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	137					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						TGCCTTGCCCGCCACCAGCCA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	42	43			NA	NA	11		NA											NA				67401799		2200	4289	6489	SO:0001583	missense			AH006177	CCDS31621.1	11q13.2	2005-10-11	2004-10-05		ENSG00000167800	ENSG00000167800	347853	347853		T-boxes	11593	protein-coding gene	gene with protein product		604648	T-box 7	TBX7	NA	9545502	Standard	NM_005995	NM_005995	NA	Approved	TBX13	uc001omp.3	O75333	OTTHUMG00000167291	ENST00000335385.3:c.410C>T	11.37:g.67401799G>A	ENSP00000335191:p.Ala137Val	NA	Q14D64|Q86XS3	37	CCDS31621.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347886	0.82022	.	.	ENSG00000167800	ENST00000335385	D	0.89681	-2.55	3.56	3.56	0.40772	p53-like transcription factor, DNA-binding (1);	0.000000	0.64402	D	0.000010	D	0.94679	0.8284	M	0.88640	2.97	0.53688	D	0.999979	D	0.89917	1.0	D	0.72625	0.978	D	0.95633	0.8691	10	0.87932	D	0	.	14.0846	0.64947	0.0:0.0:1.0:0.0	.	137	O75333	TBX10_HUMAN	V	137	ENSP00000335191:A137V	ENSP00000335191:A137V	A	-	2	0	TBX10	67158375	1.000000	0.71417	0.990000	0.47175	0.927000	0.56198	5.323000	0.65858	1.839000	0.53478	0.305000	0.20034	GCG	TBX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394034.1		-	ENST00000335385.3	Missense_Mutation	SNP	11 : 67401799 - 67401799 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	454	76
OR4K1	79544	broad.mit.edu	37	14	20404198	20404198	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20404198G>T	ENST00000285600.4	+	1	432	c.373G>T	c.(373-375)Gcc>Tcc	p.A125S		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CAGATTTATAGCCATATGTAA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	130	132			NA	NA	14		NA											NA				20404198		2203	4300	6503	SO:0001583	missense				CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249	79544	79544		GPCR / Class A : Olfactory receptors	14726	protein-coding gene	gene with protein product					NA		Standard		NM_001004063	NA	Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.373G>T	14.37:g.20404198G>T	ENSP00000285600:p.Ala125Ser	NA	B9EKV9|Q8NGD6|Q96R73	37	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	20.1	3.936499	0.73442	.	.	ENSG00000155249	ENST00000285600	T	0.01209	5.17	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000029	T	0.15089	0.0364	H	0.98786	4.33	0.38505	D	0.948311	D	0.89917	1.0	D	0.91635	0.999	T	0.30416	-0.9979	10	0.87932	D	0	.	15.7026	0.77552	0.0:0.0:1.0:0.0	.	125	Q8NGD4	OR4K1_HUMAN	S	125	ENSP00000285600:A125S	ENSP00000285600:A125S	A	+	1	0	OR4K1	19474038	1.000000	0.71417	0.997000	0.53966	0.901000	0.52897	6.825000	0.75293	2.557000	0.86248	0.655000	0.94253	GCC	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409881.1		+	ENST00000285600.4	Missense_Mutation	SNP	14 : 20404198 - 20404198 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	762	83
FLG	2312	broad.mit.edu	37	1	152277244	152277244	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152277244C>T	ENST00000368799.1	-	3	10153	c.10118G>A	c.(10117-10119)cGt>cAt	p.R3373H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3373	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACCGGTCACGTGCGGACTC	0.592		NA							Ichthyosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													292	311	305			NA	NA	1		NA											NA				152277244		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631	2312	2312		EF-hand domain containing	3748	protein-coding gene	gene with protein product		135940			NA	2740331, 2248957, 16444271	Standard	NM_002016	NM_002016	NA	Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10118G>A	1.37:g.152277244C>T	ENSP00000357789:p.Arg3373His	NA	Q01720|Q5T583|Q9UC71	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	9.981	1.228161	0.22542	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.00940	5.52	2.71	-5.36	0.02689	.	.	.	.	.	T	0.00524	0.0017	L	0.60957	1.885	0.09310	N	1	P	0.46706	0.883	P	0.46419	0.516	T	0.18053	-1.0349	9	0.21540	T	0.41	-0.9891	9.4993	0.39008	0.0:0.2497:0.0:0.7503	.	3373	P20930	FILA_HUMAN	H	3373;311	ENSP00000357789:R3373H	ENSP00000357786:R311H	R	-	2	0	FLG	150543868	.	.	0.000000	0.03702	0.002000	0.02628	.	.	-1.270000	0.02433	-0.396000	0.06452	CGT	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033742.1		-	ENST00000368799.1	Missense_Mutation	SNP	1 : 152277244 - 152277244 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2939	712
PLA2G4D	283748	broad.mit.edu	37	15	42364020	42364020	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42364020C>T	ENST00000290472.3	-	15	1619	c.1525G>A	c.(1525-1527)Gga>Aga	p.G509R		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	509	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		ATCAGCCGTCCCATGAAGAAC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	52	51			NA	NA	15		NA											NA				42364020		2203	4299	6502	SO:0001583	missense			AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	283748	283748	3.1.1.4		30038	protein-coding gene	gene with protein product		612864			NA	14709560	Standard	NM_178034	NM_178034	NA	Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.1525G>A	15.37:g.42364020C>T	ENSP00000290472:p.Gly509Arg	NA	Q8N176	37	CCDS32203.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349577	0.61183	.	.	ENSG00000159337	ENST00000290472	T	0.51325	0.71	4.79	3.86	0.44501	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.076843	0.49916	N	0.000126	T	0.75715	0.3887	M	0.93462	3.42	0.52099	D	0.999943	D	0.89917	1.0	D	0.97110	1.0	T	0.82890	-0.0233	10	0.87932	D	0	-29.4707	14.5948	0.68397	0.0:0.8528:0.1472:0.0	.	509	Q86XP0	PA24D_HUMAN	R	509	ENSP00000290472:G509R	ENSP00000290472:G509R	G	-	1	0	PLA2G4D	40151312	1.000000	0.71417	1.000000	0.80357	0.348000	0.29142	5.846000	0.69444	0.997000	0.38969	-0.305000	0.09177	GGA	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419317.1		-	ENST00000290472.3	Missense_Mutation	SNP	15 : 42364020 - 42364020 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	462	71
GPR125	166647	broad.mit.edu	37	4	22390256	22390256	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22390256C>A	ENST00000334304.5	-	19	3307	c.3038G>T	c.(3037-3039)gGg>gTg	p.G1013V	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1013					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AGCCAAAGCCCCAAACATCCA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	103	103			NA	NA	4		NA											NA				22390256		2203	4300	6503	SO:0001583	missense			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990	166647	166647		-, GPCR / Class B : Orphans, Immunoglobulin superfamily / I-set domain containing	13839	protein-coding gene	gene with protein product		612303			NA	12565841	Standard		NM_145290	NA	Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.3038G>T	4.37:g.22390256C>A	ENSP00000334952:p.Gly1013Val	NA	Q6UXK9|Q86SQ5|Q8TC55	37	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404043	0.62288	.	.	ENSG00000152990	ENST00000334304	T	0.65732	-0.17	5.94	5.94	0.96194	GPCR, family 2-like (1);	0.098598	0.64402	D	0.000001	T	0.77916	0.4202	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.75484	0.986;0.852	T	0.76049	-0.3101	10	0.51188	T	0.08	-29.7383	20.3501	0.98811	0.0:1.0:0.0:0.0	.	870;1013	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	V	1013	ENSP00000334952:G1013V	ENSP00000334952:G1013V	G	-	2	0	GPR125	21999354	1.000000	0.71417	0.995000	0.50966	0.951000	0.60555	4.597000	0.61062	2.807000	0.96579	0.650000	0.86243	GGG	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362960.3		-	ENST00000334304.5	Missense_Mutation	SNP	4 : 22390256 - 22390256 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	341	60
RIPK3	11035	broad.mit.edu	37	14	24806143	24806143	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24806143C>A	ENST00000216274.5	-	9	1502	c.1284G>T	c.(1282-1284)gaG>gaT	p.E428D	RP11-934B9.3_ENST00000555591.1_Missense_Mutation_p.E102D	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	428					apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		TGCCTTGTCTCTCAGCCCCCT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(58;918 1191 4668 13304 15331)							NA				0													114	107	109			NA	NA	14		NA											NA				24806143		2203	4300	6503	SO:0001583	missense			AF156884	CCDS9628.1	14q12	2006-05-15			ENSG00000129465	ENSG00000129465	11035	11035			10021	protein-coding gene	gene with protein product		605817			NA	10339433, 10358032	Standard	NM_006871	NM_006871	NA	Approved	RIP3	uc001wpb.3	Q9Y572	OTTHUMG00000029349	ENST00000216274.5:c.1284G>T	14.37:g.24806143C>A	ENSP00000216274:p.Glu428Asp	NA	B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	37	CCDS9628.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.67|12.67	2.007385|2.007385	0.35415|0.35415	.|.	.|.	ENSG00000258973;ENSG00000129465|ENSG00000129465	ENST00000555591;ENST00000216274|ENST00000554569	T|.	0.44482|.	0.92|.	4.49|4.49	2.61|2.61	0.31194|0.31194	.|.	1.079420|.	0.07158|.	N|.	0.850264|.	T|T	0.24928|0.24928	0.0605|0.0605	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	B;B|.	0.20550|.	0.037;0.046|.	B;B|.	0.21917|.	0.027;0.037|.	T|T	0.19679|0.19679	-1.0298|-1.0298	10|5	0.02654|.	T|.	1|.	-1.3913|-1.3913	5.6008|5.6008	0.17353|0.17353	0.0:0.6885:0.2021:0.1094|0.0:0.6885:0.2021:0.1094	.|.	102;428|.	G3V2L1;Q9Y572|.	.;RIPK3_HUMAN|.	D|I	102;428|109	ENSP00000216274:E428D|.	ENSP00000216274:E428D|.	E|R	-|-	3|2	2|0	RIPK3;RP11-934B9.3|RIPK3	23875983|23875983	0.000000|0.000000	0.05858|0.05858	0.009000|0.009000	0.14445|0.14445	0.113000|0.113000	0.19764|0.19764	-0.998000|-0.998000	0.03701|0.03701	0.786000|0.786000	0.33708|0.33708	0.655000|0.655000	0.94253|0.94253	GAG|AGA	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000073203.4		-	ENST00000216274.5	Missense_Mutation	SNP	14 : 24806143 - 24806143 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	564	104
FER	2241	broad.mit.edu	37	5	108516459	108516459	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108516459C>T	ENST00000281092.4	+	18	2444	c.2060C>T	c.(2059-2061)gCa>gTa	p.A687V	FER_ENST00000438717.2_Missense_Mutation_p.A512V	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	687	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GACCTTGCTGCAAGAAACTGC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(146;1051 1799 9836 27344 47401)							NA				0													127	122	124			NA	NA	5		NA											NA				108516459		2202	4300	6502	SO:0001583	missense			J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2241	2241	2.7.10.1	Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, SH2 domain containing	3655	protein-coding gene	gene with protein product	phosphoprotein NCP94, protein phosphatase 1, regulatory subunit 74	176942			NA		Standard	NM_005246	NM_005246	NA	Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.2060C>T	5.37:g.108516459C>T	ENSP00000281092:p.Ala687Val	NA	B2RCR4|B4DSQ2	37	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	C	32	5.117416	0.94385	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	T;T	0.37058	1.22;1.22	5.24	5.24	0.73138	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.69468	0.3114	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.77755	-0.2469	10	0.87932	D	0	-12.7602	18.8338	0.92153	0.0:1.0:0.0:0.0	.	687	P16591	FER_HUMAN	V	687;512	ENSP00000281092:A687V;ENSP00000394297:A512V	ENSP00000281092:A687V	A	+	2	0	FER	108544358	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.769000	0.85360	2.434000	0.82447	0.650000	0.86243	GCA	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250664.1		+	ENST00000281092.4	Missense_Mutation	SNP	5 : 108516459 - 108516459 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	590	89
IKZF1	10320	broad.mit.edu	37	7	50444294	50444294	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50444294G>T	ENST00000331340.3	+	4	379	c.224G>T	c.(223-225)gGg>gTg	p.G75V	IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000439701.1_Missense_Mutation_p.G75V|IKZF1_ENST00000440768.2_Missense_Mutation_p.G75V|IKZF1_ENST00000357364.4_Missense_Mutation_p.G75V|IKZF1_ENST00000359197.5_Missense_Mutation_p.G75V|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000349824.4_Missense_Mutation_p.G75V|IKZF1_ENST00000438033.1_Intron	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	75					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GAAATGAATGGGGAAGAATGT	0.488		NA	D,T	BCL6	ALL, DLBCL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec,Dom	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	131	Unknown(131)	haematopoietic_and_lymphoid_tissue(131)											148	153	152			NA	NA	7		NA											NA				50444294		1977	4157	6134	SO:0001583	missense			U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811	10320	10320		Zinc fingers, C2H2-type, IKAROS zinc fingers	13176	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 92	603023	zinc finger protein, subfamily 1A, 1 (Ikaros)	ZNFN1A1	NA	1439790, 7935426	Standard	NM_006060	NM_006060	NA	Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.224G>T	7.37:g.50444294G>T	ENSP00000331614:p.Gly75Val	NA	A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q8WVA3	37		.	.	.	.	.	.	.	.	.	.	G	16.60	3.169750	0.57584	.	.	ENSG00000185811	ENST00000359197;ENST00000440768;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000439701	T;T;T;T;T;T	0.07800	3.31;3.16;4.22;3.38;3.31;3.31	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.31358	0.0794	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.14924	-1.0455	9	0.87932	D	0	-15.7728	17.4837	0.87682	0.0:0.0:1.0:0.0	.	75;75	Q13422-7;Q13422	.;IKZF1_HUMAN	V	75	ENSP00000352123:G75V;ENSP00000401507:G75V;ENSP00000342485:G75V;ENSP00000349928:G75V;ENSP00000331614:G75V;ENSP00000413025:G75V	ENSP00000331614:G75V	G	+	2	0	IKZF1	50411788	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.651000	0.67951	2.204000	0.70986	0.313000	0.20887	GGG	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000342242.1		+	ENST00000331340.3	Missense_Mutation	SNP	7 : 50444294 - 50444294 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	471	101
COL5A3	50509	broad.mit.edu	37	19	10091784	10091784	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10091784C>T	ENST00000264828.3	-	33	2570	c.2485G>A	c.(2485-2487)Gaa>Aaa	p.E829K		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	829	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CGCTCTCCTTCCAGGCCTGGC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	91	96			NA	NA	19		NA											NA				10091784		2203	4300	6503	SO:0001583	missense			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573	50509	50509		Collagens	14864	protein-coding gene	gene with protein product		120216			NA	10722718	Standard	NM_015719	NM_015719	NA	Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2485G>A	19.37:g.10091784C>T	ENSP00000264828:p.Glu829Lys	NA	Q9NZQ6	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.841790	0.51057	.	.	ENSG00000080573	ENST00000264828	D	0.94376	-3.41	4.81	4.81	0.61882	.	0.234079	0.35262	N	0.003334	T	0.76758	0.4032	N	0.00656	-1.285	0.30216	N	0.797247	B	0.29481	0.245	B	0.31946	0.138	T	0.72184	-0.4367	10	0.06494	T	0.89	.	11.3128	0.49375	0.0:0.8155:0.1845:0.0	.	829	P25940	CO5A3_HUMAN	K	829	ENSP00000264828:E829K	ENSP00000264828:E829K	E	-	1	0	COL5A3	9952784	0.751000	0.28327	0.958000	0.39756	0.716000	0.41182	1.691000	0.37721	2.220000	0.72140	0.313000	0.20887	GAA	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000315788.1		-	ENST00000264828.3	Missense_Mutation	SNP	19 : 10091784 - 10091784 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	460	98
PIK3C2B	5287	broad.mit.edu	37	1	204403006	204403006	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204403006C>T	ENST00000367187.3	-	26	4314	c.3758G>A	c.(3757-3759)cGc>cAc	p.R1253H	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1225H	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1253	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			ATCATGGAAGCGGCTGGAAGG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	114	119			NA	NA	1		NA											NA				204403006		2203	4300	6503	SO:0001583	missense			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	5287	5287	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	phosphoinositide-3-kinase, class 2, beta polypeptide		NA	9144573, 9830063	Standard	NM_002646	NM_002646	NA	Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.3758G>A	1.37:g.204403006C>T	ENSP00000356155:p.Arg1253His	NA	O95666|Q5SW99	37	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	C	33	5.247408	0.95305	.	.	ENSG00000133056	ENST00000367187;ENST00000391949;ENST00000424712	T;T	0.75704	-0.96;-0.96	5.89	5.89	0.94794	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.065160	0.64402	D	0.000002	T	0.77585	0.4152	N	0.12961	0.28	0.58432	D	0.999992	P;D	0.89917	0.879;1.0	B;D	0.91635	0.334;0.999	T	0.77127	-0.2702	10	0.34782	T	0.22	.	19.8527	0.96746	0.0:1.0:0.0:0.0	.	1225;1253	F5GWN5;O00750	.;P3C2B_HUMAN	H	1253;31;1225	ENSP00000356155:R1253H;ENSP00000400561:R1225H	ENSP00000356155:R1253H	R	-	2	0	PIK3C2B	202669629	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.731000	0.84895	2.783000	0.95769	0.655000	0.94253	CGC	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087965.1		-	ENST00000367187.3	Missense_Mutation	SNP	1 : 204403006 - 204403006 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	764	226
COX17	10063	broad.mit.edu	37	3	119394074	119394074	+	Silent	SNP	G	G	A	rs143622776	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119394074G>A	ENST00000484810.1	-	3	254	c.219C>T	c.(217-219)atC>atT	p.I73I	COX17_ENST00000497116.1_Silent_p.I38I|COX17_ENST00000261070.2_Silent_p.I38I			Q14061	COX17_HUMAN	COX17 cytochrome c oxidase copper chaperone	38					copper ion transport|generation of precursor metabolites and energy	mitochondrial intermembrane space	copper chaperone activity			central_nervous_system(1)|kidney(1)|large_intestine(1)	3				GBM - Glioblastoma multiforme(114;0.227)		CTCCTTTCTCGATGATACTAT	0.363		NA											G	1	5e-04	0.002	NA	2184	NA	0.9999	,	,	NA	2e-04	NA	NA	NA	4e-04	0.8551	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0								G		4,4402	8.1+/-20.4	0,4,2199	107	100	102		114	-9.6	0.6	3	dbSNP_134	102	0,8600		0,0,4300	no	coding-synonymous	COX17	NM_005694.1		0,4,6499	AA,AG,GG	NA	0.0,0.0908,0.0308		38/64	119394074	4,13002	2203	4300	6503	SO:0001819	synonymous_variant			L77701	CCDS2993.1	3q13.33	2013-05-23	2013-05-23		ENSG00000138495	ENSG00000138495	10063	10063		Mitochondrial respiratory chain complex assembly factors	2264	protein-coding gene	gene with protein product		604813	COX17 (yeast) homolog, cytochrome c oxidase assembly protein, COX17 homolog, cytochrome c oxidase assembly protein (yeast), COX17 homolog, cytochrome c oxidase assembly protein (S. cerevisiae), COX17 cytochrome c oxidase assembly homolog (S. cerevisiae), cytochrome c oxidase assembly homolog 17 (yeast)		NA	9050918, 21816817	Standard	NM_005694	NM_005694	NA	Approved		uc003ecz.1	Q14061	OTTHUMG00000159433	ENST00000484810.1:c.219C>T	3.37:g.119394074G>A		NA	B2R5D2|D3DN84|Q3MHD6	37																																																																																				COX17-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000355301.1		-	ENST00000484810.1	Silent	SNP	3 : 119394074 - 119394074 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	314	48
C12orf50	160419	broad.mit.edu	37	12	88380103	88380103	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:88380103G>T	ENST00000298699.2	-	10	1088	c.908C>A	c.(907-909)tCt>tAt	p.S303Y	C12orf50_ENST00000550553.1_Missense_Mutation_p.S264Y	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	303										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						CTGCATTCCAGAGTTAGGAAA	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	106	106			NA	NA	12		NA											NA				88380103		2203	4299	6502	SO:0001583	missense			AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805	160419	160419			26665	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152589	NM_152589	NA	Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.908C>A	12.37:g.88380103G>T	ENSP00000298699:p.Ser303Tyr	NA	Q6P674	37	CCDS9031.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.173542	0.38413	.	.	ENSG00000165805	ENST00000298699;ENST00000550553;ENST00000551944	T;T	0.34275	1.38;1.37	6.01	6.01	0.97437	.	0.547279	0.19009	N	0.125123	T	0.42040	0.1185	L	0.44542	1.39	0.32994	D	0.525332	D;P	0.54964	0.969;0.874	P;B	0.47827	0.558;0.444	T	0.53933	-0.8368	10	0.72032	D	0.01	.	17.4379	0.87557	0.0:0.0:1.0:0.0	.	318;303	G3V208;Q8NA57	.;CL050_HUMAN	Y	303;264;318	ENSP00000298699:S303Y;ENSP00000448344:S264Y	ENSP00000298699:S303Y	S	-	2	0	C12orf50	86904234	0.980000	0.34600	0.891000	0.34965	0.048000	0.14542	2.849000	0.48286	2.861000	0.98227	0.650000	0.86243	TCT	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406328.1		-	ENST00000298699.2	Missense_Mutation	SNP	12 : 88380103 - 88380103 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	44
FTSJ1	24140	broad.mit.edu	37	X	48339583	48339583	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48339583C>T	ENST00000019019.2	+	7	835	c.406C>T	c.(406-408)Ctc>Ttc	p.L136F	FTSJ1_ENST00000496365.1_3'UTR|FTSJ1_ENST00000348411.2_Missense_Mutation_p.L136F|FTSJ1_ENST00000396894.4_Intron|FTSJ1_ENST00000456787.1_Missense_Mutation_p.L136F	NM_177439.1	NP_803188.1	Q9UET6	RRMJ1_HUMAN	FtsJ RNA methyltransferase homolog 1 (E. coli)	136					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						GGCCCAGCTCCTCCTAGCTGT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	78	89			NA	NA	X		NA											NA				48339583		2203	4300	6503	SO:0001583	missense			AJ005892	CCDS14294.1, CCDS14295.1, CCDS75972.1	Xp11.23	2012-06-12	2012-06-12		ENSG00000068438	ENSG00000068438	24140	24140			13254	protein-coding gene	gene with protein product	tRNA methyltransferase 7 homolog (S. cerevisiae)	300499	mental retardation, X-linked 9, mental retardation, X-linked 44	MRX9, MRX44	NA	15342698, 15162322	Standard		XR_246715	NA	Approved	JM23, CDLIV, SPB1, TRM7, TRMT7	uc004djo.1	Q9UET6	OTTHUMG00000024118	ENST00000019019.2:c.406C>T	X.37:g.48339583C>T	ENSP00000019019:p.Leu136Phe	NA	B2RCJ0|O75670	37	CCDS14295.1	.	.	.	.	.	.	.	.	.	.	c	15.24	2.775117	0.49786	.	.	ENSG00000068438	ENST00000019019;ENST00000348411;ENST00000456787	T;T;T	0.33654	1.4;1.4;1.4	4.47	4.47	0.54385	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.080390	0.51477	D	0.000087	T	0.59742	0.2216	M	0.80616	2.505	0.80722	D	1	D;P;D	0.69078	0.997;0.81;0.984	D;P;D	0.78314	0.991;0.875;0.949	T	0.65059	-0.6260	10	0.87932	D	0	-7.014	11.6808	0.51457	0.0:1.0:0.0:0.0	.	136;136;136	Q9UET6;Q9UET6-2;B3KN91	RRMJ1_HUMAN;.;.	F	136	ENSP00000019019:L136F;ENSP00000326948:L136F;ENSP00000415457:L136F	ENSP00000019019:L136F	L	+	1	0	FTSJ1	48224527	1.000000	0.71417	0.964000	0.40570	0.016000	0.09150	4.594000	0.61041	2.241000	0.73720	0.507000	0.49892	CTC	FTSJ1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060727.1		+	ENST00000019019.2	Missense_Mutation	SNP	X : 48339583 - 48339583 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	125	36
ARFGEF1	10565	broad.mit.edu	37	8	68200271	68200271	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68200271C>T	ENST00000262215.3	-	7	1335	c.946G>A	c.(946-948)Gga>Aga	p.G316R		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	316			G -> E (in a colorectal cancer sample; somatic mutation).		exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TGGTTTTCTCCGTCATATAAC	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													194	186	189			NA	NA	8		NA											NA				68200271		2202	4300	6502	SO:0001583	missense			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777	10565	10565			15772	protein-coding gene	gene with protein product		604141			NA	10212200, 8917509	Standard	NM_006421	NM_006421	NA	Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.946G>A	8.37:g.68200271C>T	ENSP00000262215:p.Gly316Arg	NA	Q9NV46|Q9UFV2|Q9UNL0	37	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244567	0.59103	.	.	ENSG00000066777	ENST00000262215	T	0.18960	2.18	5.39	5.39	0.77823	Armadillo-type fold (1);	0.132011	0.52532	D	0.000071	T	0.19685	0.0473	L	0.38175	1.15	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06006	-1.0851	10	0.17832	T	0.49	.	19.5127	0.95148	0.0:1.0:0.0:0.0	.	316	Q9Y6D6	BIG1_HUMAN	R	316	ENSP00000262215:G316R	ENSP00000262215:G316R	G	-	1	0	ARFGEF1	68362825	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	3.952000	0.56691	2.688000	0.91661	0.460000	0.39030	GGA	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379441.4		-	ENST00000262215.3	Missense_Mutation	SNP	8 : 68200271 - 68200271 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	532	77
ZNF280D	54816	broad.mit.edu	37	15	56958693	56958693	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56958693C>T	ENST00000559000.1	-	21	3654	c.1855G>A	c.(1855-1857)Gaa>Aaa	p.E619K	ZNF280D_ENST00000267807.7_Missense_Mutation_p.E632K|ZNF280D_ENST00000559237.1_Missense_Mutation_p.E619K|ZNF280D_ENST00000396245.1_Missense_Mutation_p.E336K			Q6N043	Z280D_HUMAN	zinc finger protein 280D	632					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TCTTTTATTTCGGAACAACAC	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	89	91			NA	NA	15		NA											NA				56958693		2192	4292	6484	SO:0001583	missense			AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20			54816	54816			25953	protein-coding gene	gene with protein product			suppressor of hairy wing homolog 4 (Drosophila)	SUHW4	NA	10997877	Standard	XM_370867	XM_005254481	NA	Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000559000.1:c.1855G>A	15.37:g.56958693C>T	ENSP00000453045:p.Glu619Lys	NA	A1L495|B2RMT6|Q6MZM6|Q6N085|Q9H0U5|Q9HCI8|Q9NXS0	37		.	.	.	.	.	.	.	.	.	.	C	10.35	1.325527	0.24080	.	.	ENSG00000137871	ENST00000267807;ENST00000455329;ENST00000396245	T;T	0.03242	4.0;4.48	4.96	4.03	0.46877	.	0.898672	0.09068	U	0.853314	T	0.04952	0.0133	L	0.39085	1.19	0.32489	N	0.540437	B;B	0.28880	0.115;0.226	B;B	0.27380	0.025;0.079	T	0.24905	-1.0147	10	0.27785	T	0.31	-22.9372	14.0291	0.64604	0.1524:0.8476:0.0:0.0	.	695;632	B4DHL1;Q6N043	.;Z280D_HUMAN	K	632;619;336	ENSP00000267807:E632K;ENSP00000379545:E336K	ENSP00000267807:E632K	E	-	1	0	ZNF280D	54745985	0.999000	0.42202	0.962000	0.40283	0.991000	0.79684	4.260000	0.58835	1.193000	0.43086	0.467000	0.42956	GAA	ZNF280D-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000419442.2		-	ENST00000559000.1	Missense_Mutation	SNP	15 : 56958693 - 56958693 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	524	99
KCNK10	54207	broad.mit.edu	37	14	88658693	88658693	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88658693C>T	ENST00000340700.5	-	5	1179	c.728G>A	c.(727-729)gGc>gAc	p.G243D	KCNK10_ENST00000312350.5_Missense_Mutation_p.G248D|KCNK10_ENST00000319231.5_Missense_Mutation_p.G248D	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	243					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CACAATGCAGCCGGCCAAGAT	0.507		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	14		NA											NA				88658693		2203	4300	6503	SO:0001583	missense			AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12					54207	54207		Potassium channels, Voltage-gated ion channels / Potassium channels, Two-P	6273	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 97	605873			NA	10880510, 16382106	Standard	NM_021161	NM_021161	NA	Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.728G>A	14.37:g.88658693C>T	ENSP00000343104:p.Gly243Asp	NA	B2RCT3|Q8TDK7|Q8TDK8|Q9HB59	37	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	C	35	5.438248	0.96168	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	T;T;T	0.24538	1.85;1.85;1.85	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.65770	0.2723	H	0.94542	3.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.74284	-0.3715	10	0.66056	D	0.02	.	20.248	0.98401	0.0:1.0:0.0:0.0	.	243;248;248	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	D	243;248;248	ENSP00000343104:G243D;ENSP00000310568:G248D;ENSP00000312811:G248D	ENSP00000310568:G248D	G	-	2	0	KCNK10	87728446	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.790000	0.95986	0.655000	0.94253	GGC	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410167.1		-	ENST00000340700.5	Missense_Mutation	SNP	14 : 88658693 - 88658693 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	630	94
ADRA2B	151	broad.mit.edu	37	2	96781645	96781645	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96781645G>A	ENST00000409345.3	-	1	339	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	82					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CACCACGTGCGCCGGAAGTAC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	50	49			NA	NA	2		NA											NA				96781645		2202	4300	6502	SO:0001583	missense			M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286	151	151		GPCR / Class A : Adrenoceptors : alpha	282	protein-coding gene	gene with protein product		104260	adrenergic, alpha-2B-, receptor	ADRA2L1, ADRA2RL1	NA	2164221	Standard		NM_000682	NA	Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.244C>T	2.37:g.96781645G>A	ENSP00000387281:p.Arg82Cys	NA	Q4TUH9|Q53RF2|Q9BZK0	37	CCDS56129.1	.	.	.	.	.	.	.	.	.	.	g	15.63	2.889619	0.52014	.	.	ENSG00000222040	ENST00000409345	T	0.73469	-0.75	4.48	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	D	0.84835	0.5560	M	0.92691	3.335	0.32577	N	0.52904	D	0.67145	0.996	P	0.58970	0.849	D	0.86428	0.1759	9	0.72032	D	0.01	.	5.7559	0.18172	0.0986:0.0:0.7108:0.1905	.	82	P18089	ADA2B_HUMAN	C	82	ENSP00000387281:R82C	ENSP00000387281:R82C	R	-	1	0	ADRA2B	96145372	0.001000	0.12720	0.991000	0.47740	0.742000	0.42306	1.279000	0.33191	1.133000	0.42147	-0.365000	0.07479	CGC	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334990.1		-	ENST00000409345.3	Missense_Mutation	SNP	2 : 96781645 - 96781645 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	127	42
SLC1A6	6511	broad.mit.edu	37	19	15063833	15063833	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15063833G>A	ENST00000430939.2	-	8	1343	c.1214C>T	c.(1213-1215)cCc>cTc	p.P405L	SLC1A6_ENST00000221742.3_Missense_Mutation_p.P469L|SLC1A6_ENST00000600144.1_Missense_Mutation_p.P391L			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	469					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	ACCCGCCTGGGGGATGCCAGC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	101	104			NA	NA	19		NA											NA				15063833		2203	4300	6503	SO:0001583	missense				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143	6511	6511		Solute carriers	10944	protein-coding gene	gene with protein product		600637			NA	7791878	Standard	NM_005071	NM_005071	NA	Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000430939.2:c.1214C>T	19.37:g.15063833G>A	ENSP00000409386:p.Pro405Leu	NA		37		.	.	.	.	.	.	.	.	.	.	-	25.8	4.678153	0.88542	.	.	ENSG00000105143	ENST00000430939;ENST00000221742	T;T	0.76186	-1.0;-1.0	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	D	0.91012	0.7173	H	0.98111	4.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.978;1.0	D	0.94009	0.7282	10	0.87932	D	0	-27.8098	14.8789	0.70516	0.0:0.0:1.0:0.0	.	405;469	E7EV13;P48664	.;EAA4_HUMAN	L	405;469	ENSP00000409386:P405L;ENSP00000221742:P469L	ENSP00000221742:P469L	P	-	2	0	SLC1A6	14924833	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.401000	0.97294	2.451000	0.82905	0.446000	0.29264	CCC	SLC1A6-001	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000466282.1		-	ENST00000430939.2	Missense_Mutation	SNP	19 : 15063833 - 15063833 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	846	147
MID1IP1	58526	broad.mit.edu	37	X	38664233	38664233	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:38664233C>T	ENST00000336949.6	+	2	979	c.34C>T	c.(34-36)Cac>Tac	p.H12Y	MID1IP1_ENST00000457894.1_Missense_Mutation_p.H12Y|MID1IP1_ENST00000378474.3_Missense_Mutation_p.H12Y	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	12					lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						CAACCAGAAGCACTCGCTCTT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	82	95			NA	NA	X		NA											NA				38664233		2202	4300	6502	SO:0001583	missense				CCDS14249.1	Xp11.4	2012-02-23	2012-02-23		ENSG00000165175	ENSG00000165175	58526	58526			20715	protein-coding gene	gene with protein product	gastrulation specific G12 homolog (zebrafish)		MID1 interacting protein 1 (gastrulation specific G12-like (zebrafish))		NA		Standard		NM_001098790	NA	Approved	STRAIT11499, FLJ10386, MIG12, THRSPL, G12-like	uc010ngz.3	Q9NPA3	OTTHUMG00000024092	ENST00000336949.6:c.34C>T	X.37:g.38664233C>T	ENSP00000338706:p.His12Tyr	NA	D3DWB2	37	CCDS14249.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.138881	0.37728	.	.	ENSG00000165175	ENST00000457894;ENST00000378474;ENST00000336949	.	.	.	4.57	4.57	0.56435	.	0.194465	0.42172	D	0.000750	T	0.50837	0.1639	L	0.29908	0.895	0.45390	D	0.998374	B	0.22080	0.064	B	0.18263	0.021	T	0.49173	-0.8967	9	0.40728	T	0.16	-8.7866	15.3016	0.73955	0.0:1.0:0.0:0.0	.	12	Q9NPA3	M1IP1_HUMAN	Y	12	.	ENSP00000338706:H12Y	H	+	1	0	MID1IP1	38549177	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.475000	0.60210	2.116000	0.64780	0.529000	0.55759	CAC	MID1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060655.1		+	ENST00000336949.6	Missense_Mutation	SNP	X : 38664233 - 38664233 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	213	45
DMXL2	23312	broad.mit.edu	37	15	51791720	51791720	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51791720C>T	ENST00000251076.5	-	18	3988	c.3701G>A	c.(3700-3702)aGa>aAa	p.R1234K	DMXL2_ENST00000543779.2_Missense_Mutation_p.R1234K|DMXL2_ENST00000449909.3_Intron	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1234						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GTCTATAGATCTAAGAAGAAC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													185	159	168			NA	NA	15		NA											NA				51791720		2195	4293	6488	SO:0001583	missense			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093	23312	23312		WD repeat domain containing	2938	protein-coding gene	gene with protein product	rabconnectin 3	612186			NA		Standard	NM_015263	NM_001174116	NA	Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.3701G>A	15.37:g.51791720C>T	ENSP00000251076:p.Arg1234Lys	NA	O94938	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509808	0.85282	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.30714	1.53;1.52	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.56659	0.2000	M	0.67700	2.07	0.80722	D	1	D;D	0.76494	0.999;0.986	D;D	0.80764	0.994;0.965	T	0.55685	-0.8102	10	0.56958	D	0.05	.	19.6332	0.95719	0.0:1.0:0.0:0.0	.	1234;1234	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	K	1234	ENSP00000251076:R1234K;ENSP00000441858:R1234K	ENSP00000251076:R1234K	R	-	2	0	DMXL2	49579012	1.000000	0.71417	0.984000	0.44739	0.992000	0.81027	7.461000	0.80834	2.645000	0.89757	0.591000	0.81541	AGA	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254671.2		-	ENST00000251076.5	Missense_Mutation	SNP	15 : 51791720 - 51791720 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	652	108
MYO3B	140469	broad.mit.edu	37	2	171248064	171248064	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171248064T>C	ENST00000408978.4	+	15	1755	c.1612T>C	c.(1612-1614)Tat>Cat	p.Y538H	MYO3B_ENST00000409044.3_Missense_Mutation_p.Y538H|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000334231.6_Missense_Mutation_p.Y547H	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	538	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TTACTATATTTATGCTGGTCT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	32	32			NA	NA	2		NA											NA				171248064		1781	4054	5835	SO:0001583	missense				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909	140469	140469		Myosins / Myosin superfamily : Class III	15576	protein-coding gene	gene with protein product		610040			NA		Standard		NM_001083615	NA	Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1612T>C	2.37:g.171248064T>C	ENSP00000386213:p.Tyr538His	NA	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	37	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.562697	0.86335	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27	6.17	6.17	0.99709	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.94614	0.8264	M	0.88979	2.995	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.87578	0.997;0.981;0.998	D	0.95283	0.8388	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	538;538;538	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	H	538;538;537;547;547	ENSP00000386497:Y538H;ENSP00000386213:Y538H;ENSP00000446237:Y547H;ENSP00000335100:Y547H	ENSP00000314213:Y537H	Y	+	1	0	MYO3B	170956310	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.499000	0.81566	2.371000	0.80710	0.533000	0.62120	TAT	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333410.1		+	ENST00000408978.4	Missense_Mutation	SNP	2 : 171248064 - 171248064 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	248	7
IFT88	8100	broad.mit.edu	37	13	21212570	21212570	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21212570G>A	ENST00000319980.6	+	19	1840	c.1513G>A	c.(1513-1515)Gca>Aca	p.A505T	IFT88_ENST00000351808.5_Missense_Mutation_p.A496T|IFT88_ENST00000382778.4_Missense_Mutation_p.A505T|IFT88_ENST00000537103.1_Missense_Mutation_p.A477T	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	505					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TACAGTTTTTGCAAATGGTGA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	104	102			NA	NA	13		NA											NA				21212570		2203	4300	6503	SO:0001583	missense			AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742	8100	8100		Intraflagellar transport homologs, Tetratricopeptide (TTC) repeat domain containing	20606	protein-coding gene	gene with protein product	polaris homolog	600595	tetratricopeptide repeat domain 10, intraflagellar transport 88 homolog (Chlamydomonas)	TTC10	NA	7633404	Standard	NM_006531	XM_005266546	NA	Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.1513G>A	13.37:g.21212570G>A	ENSP00000323580:p.Ala505Thr	NA	A2A491|B4DUS2|Q5SZJ6|Q8N719	37	CCDS31944.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.725880	0.48833	.	.	ENSG00000032742	ENST00000382778;ENST00000389374;ENST00000351808;ENST00000319980;ENST00000537103	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.74	5.74	0.90152	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.115379	0.64402	D	0.000016	T	0.36138	0.0956	N	0.11756	0.17	0.39382	D	0.966273	P;B;P	0.43231	0.547;0.02;0.801	B;B;B	0.38156	0.117;0.043;0.266	T	0.29243	-1.0018	10	0.13470	T	0.59	-19.7492	13.1671	0.59577	0.0728:0.0:0.9272:0.0	.	477;303;505	F5H6C2;Q6MZX0;Q13099	.;.;IFT88_HUMAN	T	505;368;496;505;477	ENSP00000372228:A505T;ENSP00000261632:A496T;ENSP00000323580:A505T;ENSP00000437719:A477T	ENSP00000323580:A505T	A	+	1	0	IFT88	20110570	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.208000	0.72165	2.710000	0.92621	0.561000	0.74099	GCA	IFT88-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044075.3		+	ENST00000319980.6	Missense_Mutation	SNP	13 : 21212570 - 21212570 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	603	109
CUBN	8029	broad.mit.edu	37	10	16946075	16946075	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16946075G>T	ENST00000377833.4	-	51	8017	c.7952C>A	c.(7951-7953)cCt>cAt	p.P2651H		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2651	CUB 19.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGGCTTTGAAGGACCACAAAG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	89	91			NA	NA	10		NA											NA				16946075		2203	4300	6503	SO:0001583	missense			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611	8029	8029			2548	protein-coding gene	gene with protein product		602997		MGA1	NA	9572993, 9478979	Standard	NM_001081	NM_001081	NA	Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7952C>A	10.37:g.16946075G>T	ENSP00000367064:p.Pro2651His	NA	B0YIZ4|Q5VTA6|Q96RU9	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320521	0.23994	.	.	ENSG00000107611	ENST00000377833	T	0.28255	1.62	5.39	3.39	0.38822	CUB (5);	0.858271	0.09772	N	0.757850	T	0.14442	0.0349	N	0.08118	0	0.24998	N	0.991489	B	0.02656	0.0	B	0.08055	0.003	T	0.23511	-1.0186	10	0.38643	T	0.18	.	2.7814	0.05362	0.1021:0.1053:0.382:0.4106	.	2651	O60494	CUBN_HUMAN	H	2651	ENSP00000367064:P2651H	ENSP00000367064:P2651H	P	-	2	0	CUBN	16986081	0.968000	0.33430	0.001000	0.08648	0.177000	0.22998	2.237000	0.43061	0.693000	0.31634	0.591000	0.81541	CCT	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047009.1		-	ENST00000377833.4	Missense_Mutation	SNP	10 : 16946075 - 16946075 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	438	84
CLEC11A	6320	broad.mit.edu	37	19	51226907	51226907	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51226907A>T	ENST00000250340.4	+	1	322	c.125A>T	c.(124-126)gAg>gTg	p.E42V	CLEC11A_ENST00000599973.1_Missense_Mutation_p.E42V	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	42					positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding			kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		gaggagcgggagagggaggCC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	57	57			NA	NA	19		NA											NA				51226907		2203	4300	6503	SO:0001583	missense			AF087658	CCDS12800.1	19q13.3	2010-04-27	2005-02-09	2005-02-11		ENSG00000105472	6320	6320		C-type lectin domain containing	10576	protein-coding gene	gene with protein product		604713	stem cell growth factor; lymphocyte secreted C-type lectin	SCGF	NA	9207134, 9442024	Standard	NM_002975	NM_002975	NA	Approved	P47, LSLCL, CLECSF3	uc002psy.3	Q9Y240		ENST00000250340.4:c.125A>T	19.37:g.51226907A>T	ENSP00000250340:p.Glu42Val	NA	B2RAD4	37	CCDS12800.1	.	.	.	.	.	.	.	.	.	.	A	15.46	2.838773	0.51057	.	.	ENSG00000105472	ENST00000250340;ENST00000445858	T	0.46819	0.86	3.09	3.09	0.35607	.	0.279407	0.22182	N	0.063482	T	0.34308	0.0893	L	0.27053	0.805	0.32344	N	0.55937	P	0.45348	0.856	B	0.42995	0.404	T	0.50013	-0.8877	10	0.87932	D	0	-10.7094	7.8693	0.29556	1.0:0.0:0.0:0.0	.	42	Q9Y240	CLC11_HUMAN	V	42	ENSP00000250340:E42V	ENSP00000250340:E42V	E	+	2	0	CLEC11A	55918719	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.855000	0.48333	1.430000	0.47334	0.379000	0.24179	GAG	CLEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464062.1		+	ENST00000250340.4	Missense_Mutation	SNP	19 : 51226907 - 51226907 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	204	47
SSBP4	170463	broad.mit.edu	37	19	18538218	18538218	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18538218G>A	ENST00000270061.7	+	2	411	c.117G>A	c.(115-117)caG>caA	p.Q39Q	SSBP4_ENST00000598159.2_3'UTR|SSBP4_ENST00000348495.6_Silent_p.Q39Q	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4	NA	LisH.					nucleus	single-stranded DNA binding			endometrium(2)|kidney(1)|skin(1)	4						AGTCAGCCCAGACCTTCCTGT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	49	52			NA	NA	19		NA											NA				18538218		2202	4300	6502	SO:0001819	synonymous_variant				CCDS12378.1, CCDS32960.1	19p13.1	2008-02-05				ENSG00000130511	170463	170463			15676	protein-coding gene	gene with protein product		607391			NA	12079286	Standard	NM_032627	NM_032627	NA	Approved		uc002niy.3	Q9BWG4		ENST00000270061.7:c.117G>A	19.37:g.18538218G>A		NA		37	CCDS12378.1																																																																																			SSBP4-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466348.3		+	ENST00000270061.7	Silent	SNP	19 : 18538218 - 18538218 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	183	36
RP11-80A15.1	0	broad.mit.edu	37	14	24976656	24976656	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24976656G>T	ENST00000555109.1	+	2	143				CMA1_ENST00000250378.3_Missense_Mutation_p.L39M|CMA1_ENST00000206446.4_Intron						NA											NA						ACAATTTCCAGGTAGGCCATG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	143	145			NA	NA	14		NA											NA				24976656		2203	4300	6503	SO:0001627	intron_variant											NA	NA			NA							NA					NA						ENST00000555109.1:c.142-684G>T	14.37:g.24976656G>T		NA		37		.	.	.	.	.	.	.	.	.	.	G	20.6	4.019589	0.75275	.	.	ENSG00000092009	ENST00000250378	D	0.91124	-2.79	5.01	4.12	0.48240	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.39985	N	0.001203	D	0.93314	0.7869	M	0.62016	1.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93113	0.6518	10	0.72032	D	0.01	.	9.3485	0.38122	0.0969:0.0:0.9031:0.0	.	39	P23946	CMA1_HUMAN	M	39	ENSP00000250378:L39M	ENSP00000250378:L39M	L	-	1	2	CMA1	24046496	0.246000	0.23909	0.685000	0.30070	0.489000	0.33432	0.903000	0.28475	1.483000	0.48342	0.655000	0.94253	CTG	RP11-80A15.1-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000412822.1		+	ENST00000555109.1	Intron	SNP	14 : 24976656 - 24976656 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	722	184
RAB28	9364	broad.mit.edu	37	4	13370206	13370206	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13370206T>G	ENST00000330852.5	-	7	856	c.642A>C	c.(640-642)agA>agC	p.R214S	RAB28_ENST00000338176.4_3'UTR|RAB28_ENST00000288723.4_3'UTR	NM_001017979.2	NP_001017979.1	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family	214					small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						ACATAGAGCTTCTAGGAGGGT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	148	154			NA	NA	4		NA											NA				13370206		2203	4300	6503	SO:0001583	missense			X94703	CCDS3409.1, CCDS33961.1, CCDS54741.1	4p16.1	2014-04-24			ENSG00000157869	ENSG00000157869	9364	9364		RAB, member RAS oncogene	9768	protein-coding gene	gene with protein product		612994			NA	8647132	Standard	NM_001017979	NM_004249	NA	Approved		uc003gmu.2	P51157	OTTHUMG00000090543	ENST00000330852.5:c.642A>C	4.37:g.13370206T>G	ENSP00000328551:p.Arg214Ser	NA	Q8IYR8|Q8NI05	37	CCDS33961.1	.	.	.	.	.	.	.	.	.	.	T	15.31	2.796757	0.50208	.	.	ENSG00000157869	ENST00000330852	T	0.69040	-0.37	6.07	-1.16	0.09678	.	0.111387	0.64402	N	0.000013	T	0.45875	0.1364	L	0.27053	0.805	0.80722	D	1	B	0.15473	0.013	B	0.10450	0.005	T	0.07177	-1.0786	10	0.45353	T	0.12	.	6.2495	0.20837	0.0:0.1625:0.2382:0.5993	.	214	P51157	RAB28_HUMAN	S	214	ENSP00000328551:R214S	ENSP00000328551:R214S	R	-	3	2	RAB28	12979304	0.909000	0.30893	0.916000	0.36221	0.997000	0.91878	-0.038000	0.12144	-0.392000	0.07751	0.533000	0.62120	AGA	RAB28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207068.2		-	ENST00000330852.5	Missense_Mutation	SNP	4 : 13370206 - 13370206 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	374	55
GRK1	6011	broad.mit.edu	37	13	114321980	114321980	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114321980G>T	ENST00000335678.6	+	1	511	c.279G>T	c.(277-279)gaG>gaT	p.E93D		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	93	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			AAGACATCGAGGACTATGACA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	56	55			NA	NA	13		NA											NA				114321980		2039	4188	6227	SO:0001583	missense					13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	6011	6011	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	rhodopsin kinase	RHOK	NA	8812493, 15057823	Standard	NM_002929	NM_002929	NA	Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.279G>T	13.37:g.114321980G>T	ENSP00000334876:p.Glu93Asp	NA	Q53X14	37		.	.	.	.	.	.	.	.	.	.	G	14.58	2.578195	0.45902	.	.	ENSG00000185974	ENST00000335678	T	0.02369	4.32	5.25	4.39	0.52855	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.08802	0.0218	.	.	.	0.44807	D	0.997813	D	0.76494	0.999	D	0.85130	0.997	T	0.32295	-0.9912	9	0.21014	T	0.42	-56.5093	8.6131	0.33815	0.1752:0.0:0.8248:0.0	.	93	Q15835	RK_HUMAN	D	93	ENSP00000334876:E93D	ENSP00000334876:E93D	E	+	3	2	GRK1	113369981	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	1.632000	0.37102	2.438000	0.82558	0.561000	0.74099	GAG	GRK1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000470655.1		+	ENST00000335678.6	Missense_Mutation	SNP	13 : 114321980 - 114321980 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	384	51
PPP3CA	5530	broad.mit.edu	37	4	102117166	102117166	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:102117166G>A	ENST00000394854.3	-	2	849	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	PPP3CA_ENST00000507176.1_Intron|PPP3CA_ENST00000394853.4_Silent_p.L56L|PPP3CA_ENST00000512215.1_Silent_p.L56L|PPP3CA_ENST00000523694.2_Intron|PPP3CA_ENST00000323055.6_Silent_p.L56L	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	56	Catalytic.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		CTCTCTTCCAGCCTTCCCTCC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	140	139			NA	NA	4		NA											NA				102117166		2203	4300	6503	SO:0001819	synonymous_variant				CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	5530	5530	3.1.3.16	Serine/threonine phosphatases / Protein phosphatase, catalytic subunits	9314	protein-coding gene	gene with protein product	calcineurin A alpha, protein phosphatase 2B, catalytic subunit, alpha isoform	114105	protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha), protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform	CALN, CALNA	NA	2848250, 1659808	Standard	NM_000944	NM_000944	NA	Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.166C>T	4.37:g.102117166G>A		NA	A8K3B7|B5BUA2|Q8TAW9	37	CCDS34037.1																																																																																			PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258379.2		-	ENST00000394854.3	Silent	SNP	4 : 102117166 - 102117166 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	451	79
PRIMA1	145270	broad.mit.edu	37	14	94187802	94187802	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94187802G>A	ENST00000393140.1	-	5	552	c.450C>T	c.(448-450)aaC>aaT	p.N150N	PRIMA1_ENST00000393143.1_Silent_p.N150N|PRIMA1_ENST00000316227.3_3'UTR	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	150					neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		ACACCACTGCGTTGTTCACGT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	92	105			NA	NA	14		NA											NA				94187802		2203	4300	6503	SO:0001819	synonymous_variant				CCDS9912.1	14q32.13	2008-08-29			ENSG00000175785	ENSG00000175785	145270	145270			18319	protein-coding gene	gene with protein product	membrane anchor of acetylcholinesterase	613851			NA	11804574	Standard	NM_178013	NM_178013	NA	Approved	PRIMA	uc001ybw.1	Q86XR5	OTTHUMG00000141313	ENST00000393140.1:c.450C>T	14.37:g.94187802G>A		NA	Q86XR6	37	CCDS9912.1																																																																																			PRIMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280658.1		-	ENST00000393140.1	Silent	SNP	14 : 94187802 - 94187802 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	251	50
PGBD5	79605	broad.mit.edu	37	1	230503803	230503803	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230503803C>T	ENST00000525115.1	-	1	148				PGBD5_ENST00000321327.2_Missense_Mutation_p.S71N|PGBD5_ENST00000391860.1_Intron			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	NA						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		CCCTGGAAGGCTGGGTCTTTT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	123	126			NA	NA	1		NA											NA				230503803		2203	4300	6503	SO:0001627	intron_variant			AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614	79605	79605			19405	protein-coding gene	gene with protein product					NA		Standard	NM_024554	NM_001258311	NA	Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.124+9440G>A	1.37:g.230503803C>T		NA	A0PJF3|B9EK58|Q5SR37|Q6PJN2	37		.	.	.	.	.	.	.	.	.	.	C	12.80	2.045635	0.36085	.	.	ENSG00000177614	ENST00000321327	T	0.22134	1.97	2.51	0.439	0.16567	.	9.012670	0.00616	U	0.000428	T	0.19046	0.0457	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.19582	-1.0301	7	0.49607	T	0.09	-0.8471	3.7888	0.08712	0.0:0.5934:0.2535:0.1531	.	.	.	.	N	71	ENSP00000322530:S71N	ENSP00000322530:S71N	S	-	2	0	PGBD5	228570426	0.000000	0.05858	0.000000	0.03702	0.133000	0.20885	-0.529000	0.06186	0.111000	0.17947	0.655000	0.94253	AGC	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000382617.1		-	ENST00000525115.1	Intron	SNP	1 : 230503803 - 230503803 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	303	49
MUC16	94025	broad.mit.edu	37	19	9047793	9047793	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9047793T>C	ENST00000397910.4	-	5	34041	c.33838A>G	c.(33838-33840)Aca>Gca	p.T11280A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11282	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						CTTGAGGTTGTCCTGGGAAGA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	57	59			NA	NA	19		NA											NA				9047793		1948	4159	6107	SO:0001583	missense			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.33838A>G	19.37:g.9047793T>C	ENSP00000381008:p.Thr11280Ala	NA	Q6ZQW5|Q96RK2	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	5.086	0.201588	0.09652	.	.	ENSG00000181143	ENST00000397910	T	0.02301	4.35	2.27	1.24	0.21308	.	.	.	.	.	T	0.03136	0.0092	L	0.52573	1.65	.	.	.	P	0.45594	0.862	P	0.44477	0.451	T	0.33879	-0.9851	8	0.87932	D	0	.	4.1022	0.10018	0.0:0.1779:0.0:0.8221	.	11280	B5ME49	.	A	11280	ENSP00000381008:T11280A	ENSP00000381008:T11280A	T	-	1	0	MUC16	8908793	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.040000	0.13905	0.311000	0.23014	0.414000	0.27820	ACA	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Missense_Mutation	SNP	19 : 9047793 - 9047793 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	126	20
CASKIN1	57524	broad.mit.edu	37	16	2239246	2239246	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2239246C>T	ENST00000343516.6	-	5	571	c.479G>A	c.(478-480)cGc>cAc	p.R160H		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	160					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CACCCCAACGCGGCCGAACTC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG	1,4025		0,1,2012	34	44	41		479	3.5	1	16		41	0,8318		0,0,4159	no	missense	CASKIN1	NM_020764.3	29	0,1,6171	TT,TC,CC	NA	0.0,0.0248,0.0081	probably-damaging	160/1432	2239246	1,12343	2013	4159	6172	SO:0001583	missense			AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971	57524	57524		Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	20879	protein-coding gene	gene with protein product		612184			NA	12040031	Standard	NM_020764	NM_020764	NA	Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.479G>A	16.37:g.2239246C>T	ENSP00000345436:p.Arg160His	NA	Q9P2P0	37	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336137	0.60963	2.48E-4	0.0	ENSG00000167971	ENST00000343516	T	0.63417	-0.04	3.46	3.46	0.39613	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.54631	0.1870	N	0.01705	-0.755	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	T	0.66504	-0.5907	9	0.44086	T	0.13	-11.7501	14.0324	0.64624	0.0:1.0:0.0:0.0	.	160	Q8WXD9	CSKI1_HUMAN	H	160	ENSP00000345436:R160H	ENSP00000345436:R160H	R	-	2	0	CASKIN1	2179247	1.000000	0.71417	0.994000	0.49952	0.874000	0.50279	5.790000	0.69038	1.954000	0.56735	0.561000	0.74099	CGC	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000435055.1		-	ENST00000343516.6	Missense_Mutation	SNP	16 : 2239246 - 2239246 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	268	43
TEP1	7011	broad.mit.edu	37	14	20872901	20872901	+	Missense_Mutation	SNP	C	C	T	rs144854568		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20872901C>T	ENST00000556935.1	-	4	910				TEP1_ENST00000262715.5_Missense_Mutation_p.V301I			Q99973	TEP1_HUMAN	telomerase-associated protein 1	NA					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ACATTCCGGACGTTCAGCTGC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	67	62	64		901	-8	0	14	dbSNP_134	64	0,8600		0,0,4300	no	missense	TEP1	NM_007110.4	29	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	benign	301/2628	20872901	1,13005	2203	4300	6503	SO:0001627	intron_variant				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566	7011	7011		WD repeat domain containing	11726	protein-coding gene	gene with protein product	TROVE domain family, member 1	601686			NA	9403057	Standard	NM_007110	NM_007110	NA	Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000556935.1:c.870+708G>A	14.37:g.20872901C>T		NA	A0AUV9	37		.	.	.	.	.	.	.	.	.	.	C	4.912	0.169402	0.09339	2.27E-4	0.0	ENSG00000129566	ENST00000262715;ENST00000359243	T	0.13307	2.6	5.55	-7.97	0.01139	TROVE (2);	0.481200	0.21268	N	0.077374	T	0.02230	0.0069	N	0.01789	-0.72	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.41910	-0.9482	10	0.02654	T	1	-1.0592	3.0455	0.06152	0.0847:0.1609:0.1646:0.5899	.	301	Q99973	TEP1_HUMAN	I	301	ENSP00000262715:V301I	ENSP00000262715:V301I	V	-	1	0	TEP1	19942741	0.221000	0.23642	0.005000	0.12908	0.695000	0.40330	-0.075000	0.11431	-1.621000	0.01562	-0.150000	0.13652	GTC	TEP1-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000410689.1		-	ENST00000556935.1	Intron	SNP	14 : 20872901 - 20872901 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	240	44
FRY	10129	broad.mit.edu	37	13	32783857	32783857	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32783857C>A	ENST00000380250.3	+	33	4907	c.4411C>A	c.(4411-4413)Ctc>Atc	p.L1471I		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CGACACAGTTCTCCTACCCTA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	132	130			NA	NA	13		NA											NA				32783857		1976	4145	6121	SO:0001583	missense			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910	10129	10129			20367	protein-coding gene	gene with protein product		614818	chromosome 13 open reading frame 14	C13orf14	NA	14702039, 8812419	Standard	NM_023037	NM_023037	NA	Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.4411C>A	13.37:g.32783857C>A	ENSP00000369600:p.Leu1471Ile	NA	Q9Y3N6	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196285	0.78902	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.29917	1.55	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.60560	0.2278	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.64262	-0.6449	10	0.66056	D	0.02	.	19.3545	0.94407	0.0:1.0:0.0:0.0	.	1471	Q5TBA9	FRY_HUMAN	I	1471;308	ENSP00000369600:L1471I	ENSP00000369600:L1471I	L	+	1	0	FRY	31681857	1.000000	0.71417	0.882000	0.34594	0.924000	0.55760	4.636000	0.61339	2.592000	0.87571	0.561000	0.74099	CTC	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044405.1		+	ENST00000380250.3	Missense_Mutation	SNP	13 : 32783857 - 32783857 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	338	62
HSF2BP	11077	broad.mit.edu	37	21	45064210	45064210	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45064210C>T	ENST00000291560.2	-	4	582	c.251G>A	c.(250-252)cGc>cAc	p.R84H	HSF2BP_ENST00000542962.1_Missense_Mutation_p.R9H	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	84					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		GGTTTCCAGGCGGGCTTTAAA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	147	153			NA	NA	21		NA											NA				45064210		2203	4300	6503	SO:0001583	missense			AB007131	CCDS13697.1	21q22.3	2008-07-31			ENSG00000160207	ENSG00000160207	11077	11077			5226	protein-coding gene	gene with protein product	heat shock factor 2 binding protein	604554			NA	9651507	Standard	NM_007031	XM_005261090	NA	Approved		uc002zdi.3	O75031	OTTHUMG00000086863	ENST00000291560.2:c.251G>A	21.37:g.45064210C>T	ENSP00000291560:p.Arg84His	NA		37	CCDS13697.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848928	0.91277	.	.	ENSG00000160207	ENST00000291560;ENST00000542962;ENST00000443485	.	.	.	5.48	5.48	0.80851	.	0.057115	0.64402	D	0.000001	T	0.71771	0.3379	M	0.63428	1.95	0.54753	D	0.999988	D	0.63046	0.992	P	0.53861	0.736	T	0.75033	-0.3460	9	0.72032	D	0.01	-10.2094	17.1439	0.86761	0.0:1.0:0.0:0.0	.	84	O75031	HSF2B_HUMAN	H	84;9;84	.	ENSP00000291560:R84H	R	-	2	0	HSF2BP	43888638	0.998000	0.40836	0.998000	0.56505	0.988000	0.76386	2.549000	0.45803	2.576000	0.86940	0.655000	0.94253	CGC	HSF2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195620.1		-	ENST00000291560.2	Missense_Mutation	SNP	21 : 45064210 - 45064210 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	499	36
ZMIZ2	83637	broad.mit.edu	37	7	44805040	44805040	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44805040C>T	ENST00000309315.4	+	16	2227	c.2104C>T	c.(2104-2106)Cgc>Tgc	p.R702C	ZMIZ2_ENST00000433667.1_Missense_Mutation_p.R670C|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.R702C|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.R644C|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.R676C	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	702					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGCACTGAAGCGCTGCCGCAC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(20;604 852 1948 16908 50522)							NA				0								C	CYS/ARG,CYS/ARG	0,4222		0,0,2111	28	31	30		2104,2026	4.2	1	7		30	1,8483		0,1,4241	no	missense,missense	ZMIZ2	NM_031449.3,NM_174929.2	180,180	0,1,6352	TT,TC,CC	NA	0.0118,0.0,0.0079	probably-damaging,probably-damaging	702/921,676/895	44805040	1,12705	2111	4242	6353	SO:0001583	missense			AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515	83637	83637		Zinc fingers, MIZ-type	22229	protein-coding gene	gene with protein product		611196			NA		Standard	NM_031449	XM_005249866	NA	Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.2104C>T	7.37:g.44805040C>T	ENSP00000311778:p.Arg702Cys	NA	A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	37	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781630	0.90282	0.0	1.18E-4	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.38240	1.16;1.16;1.16;1.15;1.18	5.14	4.24	0.50183	.	0.000000	0.64402	D	0.000011	T	0.62648	0.2445	M	0.84846	2.72	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.992	T	0.67007	-0.5779	10	0.56958	D	0.05	-16.8959	13.915	0.63893	0.0:0.9241:0.0:0.0759	.	676;702;644	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	C	644;702;702;670;676;705	ENSP00000409648:R644C;ENSP00000311778:R702C;ENSP00000414723:R702C;ENSP00000396601:R670C;ENSP00000265346:R676C	ENSP00000265346:R676C	R	+	1	0	ZMIZ2	44771565	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	3.577000	0.53885	2.686000	0.91538	0.561000	0.74099	CGC	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341790.1		+	ENST00000309315.4	Missense_Mutation	SNP	7 : 44805040 - 44805040 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	216	44
ZNF213	7760	broad.mit.edu	37	16	3191230	3191230	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3191230G>A	ENST00000396878.3	+	6	1737	c.1262G>A	c.(1261-1263)cGt>cAt	p.R421H	ZNF213_ENST00000574902.1_Missense_Mutation_p.R421H|ZNF213_ENST00000416391.2_Missense_Mutation_p.R263H|ZNF213_ENST00000576416.1_Missense_Mutation_p.R421H	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	421					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						GACCATCGGCGTGTGCACACC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	42	41			NA	NA	16		NA											NA				3191230		2196	4299	6495	SO:0001583	missense			AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644	7760	7760		Zinc fingers, C2H2-type, -, -, -	13005	protein-coding gene	gene with protein product		608387			NA	9653642, 10023065	Standard	NM_004220	NM_004220	NA	Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.1262G>A	16.37:g.3191230G>A	ENSP00000380087:p.Arg421His	NA	A8K1B9|Q96IS1	37	CCDS10495.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083241	0.76642	.	.	ENSG00000085644	ENST00000396878;ENST00000416391	T;T	0.25749	1.78;1.78	5.09	5.09	0.68999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42964	D	0.000621	T	0.54159	0.1841	M	0.81112	2.525	0.37749	D	0.925892	D	0.89917	1.0	D	0.91635	0.999	T	0.64437	-0.6408	10	0.87932	D	0	.	15.9873	0.80168	0.0:0.0:1.0:0.0	.	421	O14771	ZN213_HUMAN	H	421;263	ENSP00000380087:R421H;ENSP00000403892:R263H	ENSP00000380087:R421H	R	+	2	0	ZNF213	3131231	0.004000	0.15560	0.958000	0.39756	0.981000	0.71138	1.334000	0.33827	2.365000	0.80145	0.462000	0.41574	CGT	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437334.1		+	ENST00000396878.3	Missense_Mutation	SNP	16 : 3191230 - 3191230 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	452	87
FBXW4	6468	broad.mit.edu	37	10	103427655	103427655	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103427655C>A	ENST00000331272.7	-	5	1376	c.758G>T	c.(757-759)aGc>aTc	p.S253I		NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	253					ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex		p.S253>?(1)		breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		GAGTAATGGGCTGATAGCAAT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Complex(1)	large_intestine(1)											141	141	141			NA	NA	10		NA											NA				103427655		2203	4300	6503	SO:0001583	missense			AF281859	CCDS31271.1	10q24	2013-01-09	2007-02-08	2005-03-12	ENSG00000107829	ENSG00000107829	6468	6468		F-boxes / WD-40 domains, WD repeat domain containing	10847	protein-coding gene	gene with protein product		608071	split hand/foot malformation (ectrodactyly) type 3, F-box and WD-40 domain protein 4	SHFM3	NA	8723077, 7912888	Standard	NM_022039	XM_005270053	NA	Approved	Fbw4, dactylin	uc001kto.3	P57775	OTTHUMG00000018938	ENST00000331272.7:c.758G>T	10.37:g.103427655C>A	ENSP00000359149:p.Ser253Ile	NA	Q5SVS1|Q96IM6	37	CCDS31271.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434945	0.83885	.	.	ENSG00000107829	ENST00000331272;ENST00000389046;ENST00000457105;ENST00000431477	T	0.22945	1.93	5.75	5.75	0.90469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.076593	0.85682	D	0.000000	T	0.46483	0.1395	M	0.74647	2.275	0.58432	D	0.999993	D	0.67145	0.996	P	0.59171	0.853	T	0.42413	-0.9453	10	0.72032	D	0.01	-20.1976	13.5087	0.61499	0.0:0.9286:0.0:0.0714	.	253	P57775	FBXW4_HUMAN	I	253;253;166;209	ENSP00000359149:S253I	ENSP00000359149:S253I	S	-	2	0	FBXW4	103417645	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.468000	0.53086	2.878000	0.98634	0.650000	0.86243	AGC	FBXW4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049979.2		-	ENST00000331272.7	Missense_Mutation	SNP	10 : 103427655 - 103427655 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	799	143
ZNF557	79230	broad.mit.edu	37	19	7083484	7083484	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7083484C>T	ENST00000414706.1	+	8	1495	c.1022C>T	c.(1021-1023)aCt>aTt	p.T341I	ZNF557_ENST00000252840.6_Missense_Mutation_p.T341I|ZNF557_ENST00000439035.2_Missense_Mutation_p.T334I	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		CACATAAGAACTCATACTGGA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	102	99			NA	NA	19		NA											NA				7083484		2184	4286	6470	SO:0001583	missense			AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544	79230	79230		Zinc fingers, C2H2-type, -	28632	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024341	NM_024341	NA	Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000414706.1:c.1022C>T	19.37:g.7083484C>T	ENSP00000404065:p.Thr341Ile	NA	Q6PEJ3|Q9BTZ1	37	CCDS42485.1	.	.	.	.	.	.	.	.	.	.	C	1.185	-0.637016	0.03557	.	.	ENSG00000130544	ENST00000252840;ENST00000414706;ENST00000439035	T;T;T	0.12672	2.66;2.66;2.66	1.32	0.255	0.15561	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05777	0.0151	N	0.17379	0.485	0.20926	N	0.99983	B;B	0.28512	0.214;0.178	B;B	0.27380	0.079;0.047	T	0.39522	-0.9610	9	0.02654	T	1	.	5.2928	0.15737	0.0:0.784:0.0:0.216	.	334;341	Q8N988;Q8N988-2	ZN557_HUMAN;.	I	341;341;334	ENSP00000252840:T341I;ENSP00000404065:T341I;ENSP00000398965:T334I	ENSP00000252840:T341I	T	+	2	0	ZNF557	7034484	0.000000	0.05858	0.881000	0.34555	0.052000	0.14988	-0.121000	0.10643	0.132000	0.18615	0.313000	0.20887	ACT	ZNF557-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458501.1		+	ENST00000414706.1	Missense_Mutation	SNP	19 : 7083484 - 7083484 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	444	78
RNF123	63891	broad.mit.edu	37	3	49735349	49735349	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49735349G>A	ENST00000327697.6	+	6	518	c.374G>A	c.(373-375)cGc>cAc	p.R125H	RNF123_ENST00000432042.1_5'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	125	B30.2/SPRY.					cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GGCACCATCCGCTCTACCACA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													320	281	294			NA	NA	3		NA											NA				49735349		2203	4300	6503	SO:0001583	missense			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068	63891	63891		RING-type (C3HC4) zinc fingers	21148	protein-coding gene	gene with protein product		614472			NA		Standard	NM_022064	NM_022064	NA	Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.374G>A	3.37:g.49735349G>A	ENSP00000328287:p.Arg125His	NA	A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	37	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	G	32	5.133591	0.94517	.	.	ENSG00000164068	ENST00000327697;ENST00000389066	T	0.64260	-0.09	5.95	5.08	0.68730	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.163697	0.41712	D	0.000839	D	0.82797	0.5115	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.65140	0.932	D	0.87548	0.2463	10	0.87932	D	0	-26.426	14.3226	0.66496	0.0706:0.0:0.9294:0.0	.	125	Q5XPI4	RN123_HUMAN	H	125	ENSP00000328287:R125H	ENSP00000328287:R125H	R	+	2	0	RNF123	49710353	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.235000	0.78143	1.536000	0.49237	0.655000	0.94253	CGC	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346475.2		+	ENST00000327697.6	Missense_Mutation	SNP	3 : 49735349 - 49735349 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1307	307
FREM1	158326	broad.mit.edu	37	9	14819312	14819312	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14819312G>A	ENST00000380880.3	-	14	3249	c.2466C>T	c.(2464-2466)caC>caT	p.H822H	FREM1_ENST00000422223.2_Silent_p.H822H|FREM1_ENST00000380881.4_Silent_p.H823H			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	822					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCACCCTTCCGTGCAGAGGCA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	102	103			NA	NA	9		NA											NA				14819312		1926	4131	6057	SO:0001819	synonymous_variant			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946	158326	158326			23399	protein-coding gene	gene with protein product		608944	chromosome 9 open reading frame 154	C9orf154	NA	12838346, 15345741	Standard	NM_144966	NM_144966	NA	Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.2466C>T	9.37:g.14819312G>A		NA	Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	37	CCDS47952.1																																																																																			FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339474.2		-	ENST00000380880.3	Silent	SNP	9 : 14819312 - 14819312 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	264	57
ENPEP	2028	broad.mit.edu	37	4	111436590	111436590	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:111436590G>A	ENST00000265162.5	+	8	1843	c.1501G>A	c.(1501-1503)Gga>Aga	p.G501R	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	501					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TTTTCAAAAAGGATGTCAGGT	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	90	89			NA	NA	4		NA											NA				111436590		2202	4296	6498	SO:0001583	missense			L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	2028	2028	3.4.11.7	CD molecules	3355	protein-coding gene	gene with protein product		138297			NA	9268642	Standard		NM_001977	NA	Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1501G>A	4.37:g.111436590G>A	ENSP00000265162:p.Gly501Arg	NA	Q504U2	37	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876316	0.91664	.	.	ENSG00000138792	ENST00000265162	T	0.06218	3.33	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.46073	0.1374	H	0.99011	4.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69202	-0.5207	10	0.87932	D	0	.	19.5811	0.95468	0.0:0.0:1.0:0.0	.	501	Q07075	AMPE_HUMAN	R	501	ENSP00000265162:G501R	ENSP00000265162:G501R	G	+	1	0	ENPEP	111656039	1.000000	0.71417	0.966000	0.40874	0.898000	0.52572	9.452000	0.97615	2.643000	0.89663	0.650000	0.86243	GGA	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255747.2		+	ENST00000265162.5	Missense_Mutation	SNP	4 : 111436590 - 111436590 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	32
B3GAT3	26229	broad.mit.edu	37	11	62388054	62388054	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62388054G>A	ENST00000531383.1	-	2	378	c.172C>T	c.(172-174)Ctc>Ttc	p.L58F	B3GAT3_ENST00000265471.5_Missense_Mutation_p.L58F|B3GAT3_ENST00000534026.1_Missense_Mutation_p.L58F			O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	58					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						GGCCGTCGGAGTTCCGCTTGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	29	27			NA	NA	11		NA											NA				62388054		2202	4295	6497	SO:0001583	missense			AB009598	CCDS8025.1	11q12	2014-07-08	2014-07-08		ENSG00000149541	ENSG00000149541	26229	26229	2.4.1.135	Beta-1,3-glucuronyltransferases	923	protein-coding gene	gene with protein product	glucuronosyltransferase I, galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3	606374	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)		NA	9506957	Standard	NM_012200	NM_012200	NA	Approved	GlcAT-I	uc001ntw.3	O94766	OTTHUMG00000167685	ENST00000531383.1:c.172C>T	11.37:g.62388054G>A	ENSP00000431359:p.Leu58Phe	NA	Q96I06|Q9UEP0	37		.	.	.	.	.	.	.	.	.	.	G	24.2	4.499735	0.85176	.	.	ENSG00000149541	ENST00000265471;ENST00000531383;ENST00000534026;ENST00000534715	T;T;T;T	0.66815	-0.2;-0.21;-0.23;0.77	5.53	5.53	0.82687	.	0.070269	0.64402	D	0.000016	T	0.75722	0.3888	L	0.58101	1.795	0.48288	D	0.999622	D;D;P	0.71674	0.998;0.998;0.949	D;D;P	0.78314	0.991;0.991;0.601	T	0.69658	-0.5086	10	0.09084	T	0.74	.	14.9659	0.71193	0.0:0.0:1.0:0.0	.	58;64;58	B7ZAB3;Q5U676;O94766	.;.;B3GA3_HUMAN	F	58;58;58;81	ENSP00000265471:L58F;ENSP00000431359:L58F;ENSP00000432474:L58F;ENSP00000432854:L81F	ENSP00000265471:L58F	L	-	1	0	B3GAT3	62144630	1.000000	0.71417	0.989000	0.46669	0.759000	0.43091	3.026000	0.49689	2.599000	0.87857	0.655000	0.94253	CTC	B3GAT3-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000395589.1		-	ENST00000531383.1	Missense_Mutation	SNP	11 : 62388054 - 62388054 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	133	37
TNNT3	7140	broad.mit.edu	37	11	1955621	1955621	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1955621G>T	ENST00000381558.1	+	11	681	c.402G>T	c.(400-402)aaG>aaT	p.K134N	TNNT3_ENST00000381589.3_Missense_Mutation_p.K140N|TNNT3_ENST00000397304.2_Missense_Mutation_p.K123N|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000381549.3_Missense_Mutation_p.K134N|TNNT3_ENST00000278317.6_Missense_Mutation_p.K142N|TNNT3_ENST00000446240.1_Missense_Mutation_p.K123N|TNNT3_ENST00000381561.4_Missense_Mutation_p.K145N|TNNT3_ENST00000381579.3_Missense_Mutation_p.K134N|TNNT3_ENST00000397301.1_Missense_Mutation_p.K153N|TNNT3_ENST00000360603.3_Missense_Mutation_p.K136N|TNNT3_ENST00000381548.3_Missense_Mutation_p.K144N			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	153					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		ACGACCTGAAGAAGAAGAAAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	105	107			NA	NA	11		NA											NA				1955621		2202	4298	6500	SO:0001583	missense			M21984	CCDS7727.1, CCDS41594.1, CCDS41595.1, CCDS41596.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130595	ENSG00000130595	7140	7140			11950	protein-coding gene	gene with protein product	troponin-T3, skeletal, fast	600692	troponin T3, skeletal, fast		NA	8172653	Standard	NM_006757	NM_001042782	NA	Approved	AMCD2B, DA2B, FSSV, DKFZp779M2348	uc001lup.4	P45378	OTTHUMG00000012475	ENST00000381558.1:c.402G>T	11.37:g.1955621G>T	ENSP00000370970:p.Lys134Asn	NA	A8MQ76|A8MSW1|B3KPX3|B7WP64|B7ZL26|B7ZVV9|Q12975|Q12976|Q12977|Q12978|Q17RG9|Q6FH29|Q6N056|Q86TH6	37	CCDS41596.1	.	.	.	.	.	.	.	.	.	.	.	18.94	3.729644	0.69074	.	.	ENSG00000130595	ENST00000278317;ENST00000544980;ENST00000397309;ENST00000381561;ENST00000381548;ENST00000360603;ENST00000381549;ENST00000381589;ENST00000381579;ENST00000381557;ENST00000453458;ENST00000381563;ENST00000344578;ENST00000381558;ENST00000397301;ENST00000397304;ENST00000446240	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94	4.66	1.66	0.24008	.	0.048143	0.85682	N	0.000000	D	0.91784	0.7401	M	0.91717	3.235	0.80722	D	1	D;D;D;D;D	0.71674	0.995;0.995;0.995;0.995;0.998	D;D;D;D;D	0.70487	0.948;0.948;0.948;0.948;0.969	D	0.89446	0.3727	10	0.87932	D	0	-15.3383	6.8869	0.24208	0.1526:0.0:0.7057:0.1416	.	142;134;140;134;153	P45378-2;P45378-7;P45378-6;P45378-4;P45378	.;.;.;.;TNNT3_HUMAN	N	142;38;154;145;144;136;134;140;134;128;123;145;129;134;153;123;123	ENSP00000278317:K142N;ENSP00000370973:K145N;ENSP00000370960:K144N;ENSP00000353815:K136N;ENSP00000370961:K134N;ENSP00000371001:K140N;ENSP00000370991:K134N;ENSP00000370969:K128N;ENSP00000415614:K123N;ENSP00000370975:K145N;ENSP00000344870:K129N;ENSP00000370970:K134N;ENSP00000380468:K153N;ENSP00000380471:K123N;ENSP00000413203:K123N	ENSP00000278317:K142N	K	+	3	2	TNNT3	1912197	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	5.268000	0.65536	0.139000	0.18822	0.313000	0.20887	AAG	TNNT3-004	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034759.1		+	ENST00000381558.1	Missense_Mutation	SNP	11 : 1955621 - 1955621 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	239	34
DPYSL2	1808	broad.mit.edu	37	8	26492332	26492332	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:26492332G>A	ENST00000311151.5	+	8	1139	c.727G>A	c.(727-729)Gcc>Acc	p.A243T	DPYSL2_ENST00000523027.1_Missense_Mutation_p.A207T|DPYSL2_ENST00000521913.1_Missense_Mutation_p.A207T|DPYSL2_ENST00000521983.1_3'UTR	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	243					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding	p.A243T(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		CATCACCATCGCCAACCAGAC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											150	121	131			NA	NA	8		NA											NA				26492332		2203	4300	6503	SO:0001583	missense			D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964	1808	1808			3014	protein-coding gene	gene with protein product		602463			NA	8973361	Standard	NM_001386	NM_001197293	NA	Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.727G>A	8.37:g.26492332G>A	ENSP00000309539:p.Ala243Thr	NA	A8K5H2|D3DSS7|O00424	37	CCDS6051.1	.	.	.	.	.	.	.	.	.	.	G	37	6.222576	0.97390	.	.	ENSG00000092964	ENST00000521913;ENST00000311151;ENST00000522745;ENST00000523027	D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92	5.8	5.8	0.92144	Amidohydrolase 1 (1);	0.057489	0.64402	D	0.000001	D	0.95981	0.8691	M	0.90759	3.145	0.80722	D	1	D;P;D	0.63880	0.988;0.878;0.993	P;B;P	0.53912	0.628;0.297;0.737	D	0.95903	0.8917	10	0.56958	D	0.05	-23.4574	20.0537	0.97638	0.0:0.0:1.0:0.0	.	243;243;299	Q53ET2;Q16555;Q59GB4	.;DPYL2_HUMAN;.	T	207;243;243;207	ENSP00000427985:A207T;ENSP00000309539:A243T;ENSP00000428909:A243T;ENSP00000431117:A207T	ENSP00000309539:A243T	A	+	1	0	DPYSL2	26548249	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	9.869000	0.99810	2.758000	0.94735	0.561000	0.74099	GCC	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216904.3		+	ENST00000311151.5	Missense_Mutation	SNP	8 : 26492332 - 26492332 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	603	106
HTT	3064	broad.mit.edu	37	4	3144596	3144596	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3144596A>G	ENST00000355072.5	+	23	3194	c.3049A>G	c.(3049-3051)Acc>Gcc	p.T1017A		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1017					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AATCACATCAACCACCAGAGC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	163	166			NA	NA	4		NA											NA				3144596		1930	4140	6070	SO:0001583	missense			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386	3064	3064		Endogenous ligands	4851	protein-coding gene	gene with protein product		613004	huntingtin (Huntington disease)	HD	NA	8458085	Standard	NM_002111	NM_002111	NA	Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.3049A>G	4.37:g.3144596A>G	ENSP00000347184:p.Thr1017Ala	NA	Q9UQB7	37	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	A	16.15	3.042956	0.55003	.	.	ENSG00000197386	ENST00000355072	T	0.05382	3.45	5.24	5.24	0.73138	Armadillo-type fold (1);	0.051878	0.85682	D	0.000000	T	0.09158	0.0226	M	0.62723	1.935	0.50813	D	0.999893	P	0.39940	0.696	B	0.37601	0.254	T	0.02581	-1.1138	10	0.72032	D	0.01	.	10.9659	0.47412	0.8601:0.0:0.0:0.1399	.	1017	P42858	HD_HUMAN	A	1017	ENSP00000347184:T1017A	ENSP00000347184:T1017A	T	+	1	0	HTT	3114394	1.000000	0.71417	0.829000	0.32907	0.989000	0.77384	5.669000	0.68081	1.977000	0.57605	0.528000	0.53228	ACC	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358234.2		+	ENST00000355072.5	Missense_Mutation	SNP	4 : 3144596 - 3144596 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	680	117
CEP78	84131	broad.mit.edu	37	9	80866940	80866940	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:80866940G>A	ENST00000424347.2	+	9	1475	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	CEP78_ENST00000376598.2_Missense_Mutation_p.E396K|CEP78_ENST00000415759.2_Missense_Mutation_p.E397K|CEP78_ENST00000277082.5_Missense_Mutation_p.E396K|CEP78_ENST00000376597.4_Missense_Mutation_p.E397K			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	396					G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						GCGTACTGCAGAACGTGCAAA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	36	36			NA	NA	9		NA											NA				80866940		1863	4094	5957	SO:0001583	missense			BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019	84131	84131			25740	protein-coding gene	gene with protein product			chromosome 9 open reading frame 81	C9orf81	NA	14654843	Standard	XM_095991	NM_001098802	NA	Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.1186G>A	9.37:g.80866940G>A	ENSP00000411284:p.Glu396Lys	NA	A1A4S8|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	37		.	.	.	.	.	.	.	.	.	.	G	18.76	3.692335	0.68271	.	.	ENSG00000148019	ENST00000424347;ENST00000415085;ENST00000415759;ENST00000376597;ENST00000277082;ENST00000376598	T;T;T;T;T	0.28666	1.61;1.8;1.6;1.61;1.6	5.51	3.57	0.40892	.	0.299706	0.31246	N	0.007995	T	0.45478	0.1344	M	0.69823	2.125	0.30262	N	0.793045	D;P;D	0.62365	0.991;0.801;0.967	P;B;P	0.53760	0.734;0.314;0.614	T	0.52328	-0.8590	10	0.41790	T	0.15	-8.1064	14.7238	0.69329	0.0:0.276:0.724:0.0	.	397;397;396	E9PHX5;Q5JTW2-2;Q5JTW2	.;.;CEP78_HUMAN	K	396;396;397;397;396;396	ENSP00000411284:E396K;ENSP00000399286:E397K;ENSP00000365782:E397K;ENSP00000277082:E396K;ENSP00000365783:E396K	ENSP00000277082:E396K	E	+	1	0	CEP78	80056760	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	3.034000	0.49751	0.622000	0.30249	0.655000	0.94253	GAA	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000052766.2		+	ENST00000424347.2	Missense_Mutation	SNP	9 : 80866940 - 80866940 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	91	18
ZNF195	7748	broad.mit.edu	37	11	3380642	3380642	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3380642G>A	ENST00000354599.6	-	4	1484	c.1380C>T	c.(1378-1380)acC>acT	p.T460T	ZNF195_ENST00000005082.9_Silent_p.T509T|ZNF195_ENST00000526601.1_Silent_p.T513T|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000399602.4_Silent_p.T532T|ZNF195_ENST00000429541.2_Silent_p.T464T|ZNF195_ENST00000343338.7_Silent_p.T464T	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGGAGGACTGGGTAAAGTTTT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	148	148			NA	NA	11		NA											NA				3380642		2039	4221	6260	SO:0001819	synonymous_variant				CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801	NA	7748		Zinc fingers, C2H2-type, -	12986	protein-coding gene	gene with protein product		602187			NA	9344677	Standard		NM_001130520	NA	Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000354599.6:c.1380C>T	11.37:g.3380642G>A		NA	A8K234|B3KTK2|B4DEL0|Q0VAJ6|Q658N8|Q6ZNA9	37	CCDS41604.1																																																																																			ZNF195-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032322.2		-	ENST00000354599.6	Silent	SNP	11 : 3380642 - 3380642 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	765	61
RIOK1	83732	broad.mit.edu	37	6	7404697	7404697	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7404697C>T	ENST00000379834.2	+	10	1408	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	301	Protein kinase.						ATP binding|protein serine/threonine kinase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ATCCAAGGCTCGGGAGTTGTA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	158	161			NA	NA	6		NA											NA				7404697		2203	4300	6503	SO:0001583	missense			BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784	83732	83732			18656	protein-coding gene	gene with protein product			RIO kinase 1 (yeast)		NA		Standard	NM_031480	NM_031480	NA	Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.901C>T	6.37:g.7404697C>T	ENSP00000369162:p.Arg301Trp	NA	B2RB28|Q8NDC8|Q96NV9	37	CCDS4500.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683615	0.88639	.	.	ENSG00000124784	ENST00000379834	T	0.07444	3.19	5.3	5.3	0.74995	RIO kinase (1);Protein kinase-like domain (1);RIO-like kinase (1);	0.000000	0.85682	D	0.000000	T	0.27489	0.0675	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.08638	-1.0712	10	0.66056	D	0.02	-13.397	13.3026	0.60334	0.158:0.842:0.0:0.0	.	301	Q9BRS2	RIOK1_HUMAN	W	301	ENSP00000369162:R301W	ENSP00000369162:R301W	R	+	1	2	RIOK1	7349696	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	2.878000	0.48515	2.627000	0.88993	0.655000	0.94253	CGG	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039780.2		+	ENST00000379834.2	Missense_Mutation	SNP	6 : 7404697 - 7404697 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	821	140
SYCP2	10388	broad.mit.edu	37	20	58441414	58441414	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58441414G>A	ENST00000357552.3	-	41	4479	c.4254C>T	c.(4252-4254)atC>atT	p.I1418I	SYCP2_ENST00000371001.2_Silent_p.I1418I			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1418					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GCTCCTCTATGATAATGAATT	0.244		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	36	34			NA	NA	20		NA											NA				58441414		2126	4234	6360	SO:0001819	synonymous_variant			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074	10388	10388			11490	protein-coding gene	gene with protein product		604105			NA	10341103, 9592139	Standard	NM_014258	NM_014258	NA	Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.4254C>T	20.37:g.58441414G>A		NA	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	37	CCDS13482.1																																																																																			SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079930.3		-	ENST00000357552.3	Silent	SNP	20 : 58441414 - 58441414 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	215	36
TBC1D10A	83874	broad.mit.edu	37	22	30689795	30689795	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30689795C>T	ENST00000403477.3	-	8	936		c.e8-1		TBC1D10A_ENST00000403362.1_Splice_Site|TBC1D10A_ENST00000215790.7_Splice_Site|RP1-130H16.18_ENST00000447976.1_Splice_Site	NM_001204240.1	NP_001191169.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	NA						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						ATCTTGACCCCTGCATGGGGG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	48	47			NA	NA	22		NA											NA				30689795		2203	4300	6503	SO:0001630	splice_region_variant			AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992	83874	83874			23609	protein-coding gene	gene with protein product	EBP50-PDZ interactor of 64 kD	610020	TBC1 domain family, member 10	TBC1D10	NA	11285285, 20404108	Standard	NM_031937	NM_001204240	NA	Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000403477.3:c.917-1G>A	22.37:g.30689795C>T		NA	O76053|Q543A2	37	CCDS56227.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279871	0.80692	.	.	ENSG00000248751;ENSG00000099992;ENSG00000099992;ENSG00000099992	ENST00000434291;ENST00000215790;ENST00000403477;ENST00000403362	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2857	0.90113	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TBC1D10A;RP1-130H16.18	29019795	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	6.037000	0.70956	2.746000	0.94184	0.561000	0.74099	.	TBC1D10A-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320551.1	Intron	-	ENST00000403477.3	Splice_Site	SNP	22 : 30689795 - 30689795 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	440	79
MSLN	10232	broad.mit.edu	37	16	814919	814919	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:814919C>T	ENST00000566549.1	+	7	810	c.393C>T	c.(391-393)ttC>ttT	p.F131F	MSLN_ENST00000545450.2_Silent_p.F131F|MSLN_ENST00000563941.1_Silent_p.F131F|MSLN_ENST00000382862.3_Silent_p.F131F			Q13421	MSLN_HUMAN	mesothelin	131					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CAGATGCGTTCTCGGGGCCCC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	24	23			NA	NA	16		NA											NA				814919		2177	4287	6464	SO:0001819	synonymous_variant			U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854	10232	10232			7371	protein-coding gene	gene with protein product		601051			NA	7665620, 8552591	Standard		NM_005823	NA	Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000566549.1:c.393C>T	16.37:g.814919C>T		NA	D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	37	CCDS45370.1																																																																																			MSLN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000420614.1		+	ENST00000566549.1	Silent	SNP	16 : 814919 - 814919 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	163	34
RPTN	126638	broad.mit.edu	37	1	152128896	152128896	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152128896C>T	ENST00000316073.3	-	3	743	c.679G>A	c.(679-681)Gcc>Acc	p.A227T		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	227	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.A227T(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CGATTTAAGGCAAAGATATGT	0.413		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)											235	199	210			NA	NA	1		NA											NA				152128896		1568	3582	5150	SO:0001583	missense			AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853	126638	126638		EF-hand domain containing	26809	protein-coding gene	gene with protein product		613259			NA	15854042	Standard	XM_371312	NM_001122965	NA	Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.679G>A	1.37:g.152128896C>T	ENSP00000317895:p.Ala227Thr	NA	B7ZBZ3	37	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938550	0.52972	.	.	ENSG00000215853	ENST00000316073	T	0.12361	2.69	4.69	1.63	0.23807	.	.	.	.	.	T	0.03220	0.0094	L	0.58101	1.795	0.09310	N	1	P	0.40144	0.704	B	0.35859	0.212	T	0.35968	-0.9767	9	0.10111	T	0.7	-0.5711	2.3274	0.04226	0.1974:0.5017:0.191:0.11	.	227	Q6XPR3	RPTN_HUMAN	T	227	ENSP00000317895:A227T	ENSP00000317895:A227T	A	-	1	0	RPTN	150395520	1.000000	0.71417	0.975000	0.42487	0.376000	0.30014	1.303000	0.33470	2.146000	0.66826	0.442000	0.29010	GCC	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333867.1		-	ENST00000316073.3	Missense_Mutation	SNP	1 : 152128896 - 152128896 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1260	304
POC1A	25886	broad.mit.edu	37	3	52181054	52181054	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52181054C>T	ENST00000394970.2	-	5	830	c.513G>A	c.(511-513)ctG>ctA	p.L171L	POC1A_ENST00000474012.1_Silent_p.L133L|POC1A_ENST00000296484.2_Silent_p.L171L	NM_001161580.1	NP_001155052.1	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	171						centriole|microtubule basal body				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						TCTTGTCCCACAGCTTAACAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	99	102			NA	NA	3		NA											NA				52181054		2203	4300	6503	SO:0001819	synonymous_variant			AL117629	CCDS2846.1, CCDS54591.1, CCDS54592.1	3p21.2	2014-05-02	2013-08-21	2010-03-26	ENSG00000164087	ENSG00000164087	25886	25886		WD repeat domain containing	24488	protein-coding gene	gene with protein product		614783	WD repeat domain 51A, POC1 centriolar protein homolog A (Chlamydomonas)	WDR51A	NA	19109428, 22840364	Standard	NM_015426	NM_015426	NA	Approved	DKFZP434C245	uc003dcu.3	Q8NBT0	OTTHUMG00000157817	ENST00000394970.2:c.513G>A	3.37:g.52181054C>T		NA	Q0VDF8|Q2TAK6|Q96IK6|Q9UFJ8	37	CCDS54592.1																																																																																			POC1A-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349686.1		-	ENST00000394970.2	Silent	SNP	3 : 52181054 - 52181054 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	440	67
KDM4D	55693	broad.mit.edu	37	11	94731619	94731619	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94731619G>A	ENST00000335080.5	+	3	1915	c.1083G>A	c.(1081-1083)caG>caA	p.Q361Q	KDM4D_ENST00000536741.1_Silent_p.Q361Q	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	361					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGAGCACCCAGAAGGAAGTCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	47	50			NA	NA	11		NA											NA				94731619		2201	4298	6499	SO:0001819	synonymous_variant			AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280	55693	55693		Chromatin-modifying enzymes / K-demethylases	25498	protein-coding gene	gene with protein product		609766	jumonji domain containing 2D	JMJD2D	NA	15138608	Standard	NM_018039	NM_018039	NA	Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.1083G>A	11.37:g.94731619G>A		NA	B3KPC4|Q0VF39|Q9NT41|Q9NW76	37	CCDS8302.1																																																																																			KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396558.2		+	ENST00000335080.5	Silent	SNP	11 : 94731619 - 94731619 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	236	41
BPIFB2	80341	broad.mit.edu	37	20	31606506	31606506	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31606506C>T	ENST00000170150.3	+	9	928	c.733C>T	c.(733-735)Cca>Tca	p.P245S		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	245						extracellular region	lipid binding				NA						TTTTGTGTTGCCAAGGCATGT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	123	124			NA	NA	20		NA											NA				31606506		2203	4300	6503	SO:0001583	missense			AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898	80341	80341		BPI fold containing	16177	protein-coding gene	gene with protein product		614108	bactericidal/permeability-increasing protein-like 1	C20orf184, BPIL1	NA	12185532, 21787333	Standard	NM_025227	NM_025227	NA	Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.733C>T	20.37:g.31606506C>T	ENSP00000170150:p.Pro245Ser	NA	Q6UWN3|Q8NFQ7	37	CCDS13210.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.714973	0.68844	.	.	ENSG00000078898	ENST00000170150	T	0.09630	2.96	5.13	5.13	0.70059	.	0.000000	0.52532	D	0.000066	T	0.37156	0.0993	M	0.86028	2.79	0.44214	D	0.997043	D	0.89917	1.0	D	0.91635	0.999	T	0.22730	-1.0208	10	0.66056	D	0.02	-10.9098	14.4292	0.67238	0.0:1.0:0.0:0.0	.	245	Q8N4F0	BPIB2_HUMAN	S	245	ENSP00000170150:P245S	ENSP00000170150:P245S	P	+	1	0	BPIFB2	31070167	0.996000	0.38824	0.472000	0.27241	0.002000	0.02628	3.683000	0.54663	2.540000	0.85666	0.561000	0.74099	CCA	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078652.2		+	ENST00000170150.3	Missense_Mutation	SNP	20 : 31606506 - 31606506 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	977	167
EEPD1	80820	broad.mit.edu	37	7	36194638	36194638	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36194638A>G	ENST00000242108.4	+	2	1423	c.705A>G	c.(703-705)ccA>ccG	p.P235P	EEPD1_ENST00000534978.1_Silent_p.P235P	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	235					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						ACCTGCCGCCAGGGGGGCCCA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	41	40			NA	NA	7		NA											NA				36194638		2203	4300	6503	SO:0001819	synonymous_variant			AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547	80820	80820			22223	protein-coding gene	gene with protein product					NA		Standard	NM_030636	NM_030636	NA	Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.705A>G	7.37:g.36194638A>G		NA	Q96K64|Q9C0F7	37	CCDS34619.1																																																																																			EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337602.1		+	ENST00000242108.4	Silent	SNP	7 : 36194638 - 36194638 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	274	47
ABCB1	5243	broad.mit.edu	37	7	87174266	87174266	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87174266C>A	ENST00000265724.3	-	17	2354	c.1937G>T	c.(1936-1938)aGt>aTt	p.S646I	ABCB1_ENST00000543898.1_Missense_Mutation_p.S582I	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	646					G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	ATCAATTTCACTTTTGGATTC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	96	99			NA	NA	7		NA											NA				87174266		2203	4300	6503	SO:0001583	missense			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563	5243	5243		CD molecules, ATP binding cassette transporters / subfamily B	40	protein-coding gene	gene with protein product	multidrug resistance protein 1	171050	colchicin sensitivity	PGY1, MDR1, CLCS	NA	3027054	Standard	NM_000927	NM_000927	NA	Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1937G>T	7.37:g.87174266C>A	ENSP00000265724:p.Ser646Ile	NA	A8K294|Q12755|Q14812	37	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804349	0.31869	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.88124	-2.32;-2.34	5.75	1.3	0.21679	.	2.226270	0.01211	N	0.007857	T	0.81791	0.4897	L	0.43923	1.385	0.09310	N	1	B;B	0.27068	0.053;0.167	B;B	0.21546	0.035;0.025	T	0.63712	-0.6575	10	0.38643	T	0.18	-0.0858	3.9517	0.09372	0.17:0.4676:0.0:0.3624	.	582;646	B5AK60;P08183	.;MDR1_HUMAN	I	427;646;582	ENSP00000265724:S646I;ENSP00000444095:S582I	ENSP00000265724:S646I	S	-	2	0	ABCB1	87012202	0.000000	0.05858	0.418000	0.26571	0.993000	0.82548	-1.124000	0.03260	0.341000	0.23771	0.650000	0.86243	AGT	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335444.2		-	ENST00000265724.3	Missense_Mutation	SNP	7 : 87174266 - 87174266 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	57
HIST1H2BI	8346	broad.mit.edu	37	6	26273462	26273462	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26273462C>T	ENST00000377733.2	+	1	319	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C		NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	87					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						TTATAACAAGCGCTCGACCAT	0.602		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	6		NA											NA				26273462		2203	4300	6503	SO:0001583	missense			Z80782	CCDS4603.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000168242	ENSG00000278588	8346	8346		Histones / Replication-dependent	4756	protein-coding gene	gene with protein product		602807	H2B histone family, member K, histone 1, H2bi	H2BFK	NA	9119399, 12408966	Standard	NM_003525	NM_003525	NA	Approved	H2B/k	uc003nhk.3	P62807	OTTHUMG00000014448	ENST00000377733.2:c.259C>T	6.37:g.26273462C>T	ENSP00000366962:p.Arg87Cys	NA	P02278|Q3B872|Q4VB69|Q93078|Q93080	37	CCDS4603.1	.	.	.	.	.	.	.	.	.	.	.	16.66	3.184707	0.57909	.	.	ENSG00000168242	ENST00000377733	T	0.78003	-1.14	4.5	4.5	0.54988	.	0.000000	0.42821	U	0.000645	D	0.87513	0.6196	M	0.91717	3.235	0.41726	D	0.989538	.	.	.	.	.	.	D	0.89578	0.3818	8	0.51188	T	0.08	.	15.8093	0.78543	0.0:1.0:0.0:0.0	.	.	.	.	C	87	ENSP00000366962:R87C	ENSP00000366962:R87C	R	+	1	0	HIST1H2BI	26381441	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.125000	0.50469	2.058000	0.61347	0.563000	0.77884	CGC	HIST1H2BI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040111.1		+	ENST00000377733.2	Missense_Mutation	SNP	6 : 26273462 - 26273462 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	769	162
SAMD9	54809	broad.mit.edu	37	7	92732478	92732478	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92732478T>C	ENST00000379958.2	-	3	3202	c.2933A>G	c.(2932-2934)tAc>tGc	p.Y978C		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	978						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TACTCCACAGTAGTTCCCACA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	124	126			NA	NA	7		NA											NA				92732478		2203	4300	6503	SO:0001583	missense			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413	54809	54809		Sterile alpha motif (SAM) domain containing	1348	protein-coding gene	gene with protein product		610456	chromosome 7 open reading frame 5	C7orf5	NA		Standard	NM_017654	NM_017654	NA	Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2933A>G	7.37:g.92732478T>C	ENSP00000369292:p.Tyr978Cys	NA	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	37	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	T	1.823	-0.471728	0.04445	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.25749	1.78;2.6	4.88	4.88	0.63580	.	0.437147	0.20801	N	0.085438	T	0.15609	0.0376	L	0.31752	0.955	0.23876	N	0.996594	P	0.43885	0.82	B	0.34652	0.187	T	0.17992	-1.0351	10	0.52906	T	0.07	-4.8748	8.1729	0.31264	0.0:0.0903:0.0:0.9097	.	978	Q5K651	SAMD9_HUMAN	C	978	ENSP00000369292:Y978C;ENSP00000414529:Y978C	ENSP00000369292:Y978C	Y	-	2	0	SAMD9	92570414	1.000000	0.71417	0.179000	0.23059	0.248000	0.25809	3.567000	0.53813	2.059000	0.61396	0.496000	0.49642	TAC	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341761.1		-	ENST00000379958.2	Missense_Mutation	SNP	7 : 92732478 - 92732478 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	563	125
IFIH1	64135	broad.mit.edu	37	2	163134176	163134176	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163134176C>T	ENST00000263642.2	-	10	2188	c.1793G>A	c.(1792-1794)cGt>cAt	p.R598H		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	598				R -> S (in Ref. 2; AAG54076).	detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TGCACAAACACGTTCTTTGCG	0.333		NA											C	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	4e-04	0.95	EXOME	NA	NA	0.0011	SNP								NA				0								C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	106	100	102		1793	5.7	1	2		102	0,8596		0,0,4298	no	missense	IFIH1	NM_022168.2	29	0,2,6499	TT,TC,CC	NA	0.0,0.0454,0.0154	possibly-damaging	598/1026	163134176	2,13000	2203	4298	6501	SO:0001583	missense			AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267	64135	64135			18873	protein-coding gene	gene with protein product	helicard	606951			NA		Standard	NM_022168	NM_022168	NA	Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.1793G>A	2.37:g.163134176C>T	ENSP00000263642:p.Arg598His	NA	Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	37	CCDS2217.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.05	3.537964	0.65085	4.54E-4	0.0	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.06294	3.32	5.66	5.66	0.87406	.	0.048663	0.85682	D	0.000000	T	0.08492	0.0211	M	0.78916	2.43	0.54753	D	0.999983	P	0.39964	0.697	B	0.28991	0.097	T	0.03761	-1.1006	10	0.42905	T	0.14	-13.7346	10.2205	0.43194	0.0:0.8533:0.0:0.1467	.	598	Q9BYX4	IFIH1_HUMAN	H	598	ENSP00000263642:R598H	ENSP00000263642:R598H	R	-	2	0	IFIH1	162842422	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	4.782000	0.62396	2.665000	0.90641	0.563000	0.77884	CGT	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255078.2		-	ENST00000263642.2	Missense_Mutation	SNP	2 : 163134176 - 163134176 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	375	70
PLCE1	51196	broad.mit.edu	37	10	96022417	96022417	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96022417T>C	ENST00000371380.3	+	13	4216	c.3981T>C	c.(3979-3981)ctT>ctC	p.L1327L	PLCE1_ENST00000371375.1_Silent_p.L1019L|PLCE1_ENST00000260766.3_Silent_p.L1327L|PLCE1_ENST00000371385.3_Silent_p.L1019L			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	NA					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGGGCATACTTCAGCTCAACG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													203	199	200			NA	NA	10		NA											NA				96022417		2017	4189	6206	SO:0001819	synonymous_variant				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	51196	51196	3.1.4.11		17175	protein-coding gene	gene with protein product	nephrosis type 3	608414			NA	11022047, 11022048	Standard	NM_016341	NM_016341	NA	Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.3981T>C	10.37:g.96022417T>C		NA	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	37	CCDS41552.1																																																																																			PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049469.3		+	ENST00000371380.3	Silent	SNP	10 : 96022417 - 96022417 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	824	146
TBC1D19	55296	broad.mit.edu	37	4	26638889	26638889	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26638889T>C	ENST00000264866.4	+	5	629	c.351T>C	c.(349-351)agT>agC	p.S117S	TBC1D19_ENST00000515568.1_3'UTR|TBC1D19_ENST00000511789.1_Silent_p.S52S	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	117						intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				CTGAACTGAGTATCCCACTGG	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	78	77			NA	NA	4		NA											NA				26638889		2203	4299	6502	SO:0001819	synonymous_variant			AK001944	CCDS3439.1, CCDS75115.1	4p15.2	2008-02-05			ENSG00000109680	ENSG00000109680	55296	55296			25624	protein-coding gene	gene with protein product					NA		Standard	NM_018317	XM_006713967	NA	Approved	FLJ11082	uc003gsf.4	Q8N5T2	OTTHUMG00000097797	ENST00000264866.4:c.351T>C	4.37:g.26638889T>C		NA	Q9NUX1	37	CCDS3439.1																																																																																			TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000215052.2		+	ENST00000264866.4	Silent	SNP	4 : 26638889 - 26638889 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	509	97
ZNF462	58499	broad.mit.edu	37	9	109734376	109734376	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109734376C>A	ENST00000441147.2	+	6	3236	c.3236C>A	c.(3235-3237)cCt>cAt	p.P1079H	ZNF462_ENST00000457913.1_Missense_Mutation_p.P2233H|ZNF462_ENST00000277225.5_Missense_Mutation_p.P2173H|ZNF462_ENST00000542028.1_Missense_Mutation_p.P130H			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2173					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CGTGTTAGCCCTGTGCCTCTT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	84	84			NA	NA	9		NA											NA				109734376		2203	4300	6503	SO:0001583	missense			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143	58499	58499		Zinc fingers, C2H2-type	21684	protein-coding gene	gene with protein product					NA		Standard	NM_021224	NM_021224	NA	Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000441147.2:c.3236C>A	9.37:g.109734376C>A	ENSP00000397306:p.Pro1079His	NA	Q5T0T4|Q8N408	37		.	.	.	.	.	.	.	.	.	.	C	25.3	4.628355	0.87560	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147;ENST00000542028	T;T;T;T;T	0.16073	3.35;3.85;3.94;3.94;2.37	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.36082	0.0954	L	0.38175	1.15	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.997	T	0.00482	-1.1713	10	0.44086	T	0.13	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	2233;74;2173	Q96JM2-3;Q5T0T2;Q96JM2	.;.;ZN462_HUMAN	H	2173;2233;1116;1079;130	ENSP00000277225:P2173H;ENSP00000414570:P2233H;ENSP00000363818:P1116H;ENSP00000397306:P1079H;ENSP00000439771:P130H	ENSP00000277225:P2173H	P	+	2	0	ZNF462	108774197	0.992000	0.36948	0.995000	0.50966	0.996000	0.88848	2.991000	0.49409	2.941000	0.99782	0.655000	0.94253	CCT	ZNF462-009	NOVEL	NAGNAG_splice_site|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000356384.1		+	ENST00000441147.2	Missense_Mutation	SNP	9 : 109734376 - 109734376 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	342	29
TGM1	7051	broad.mit.edu	37	14	24729184	24729184	+	Missense_Mutation	SNP	C	C	T	rs150181059		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24729184C>T	ENST00000206765.6	-	5	961	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	280					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	ATCTGTGCTTCGGTCCCGTAG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	96	86	89		838	5.4	1	14	dbSNP_134	89	0,8600		0,0,4300	no	missense	TGM1	NM_000359.2	56	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	possibly-damaging	280/818	24729184	1,13005	2203	4300	6503	SO:0001583	missense			D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	7051	7051	2.3.2.13	Transglutaminases	11777	protein-coding gene	gene with protein product	K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase	190195	transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)	ICR2	NA	11390390	Standard	NM_000359	NM_000359	NA	Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.838G>A	14.37:g.24729184C>T	ENSP00000206765:p.Glu280Lys	NA	Q197M4	37	CCDS9622.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.170292	0.38315	2.27E-4	0.0	ENSG00000092295	ENST00000206765	D	0.88664	-2.41	5.39	5.39	0.77823	.	0.048812	0.85682	D	0.000000	T	0.76176	0.3951	N	0.11870	0.19	0.80722	D	1	D	0.59357	0.985	B	0.39660	0.306	T	0.76041	-0.3104	10	0.10111	T	0.7	-19.3187	13.7621	0.62973	0.0:0.8458:0.1542:0.0	.	280	P22735	TGM1_HUMAN	K	280	ENSP00000206765:E280K	ENSP00000206765:E280K	E	-	1	0	TGM1	23799024	0.001000	0.12720	0.967000	0.41034	0.969000	0.65631	0.709000	0.25734	2.800000	0.96347	0.650000	0.86243	GAA	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000073160.6		-	ENST00000206765.6	Missense_Mutation	SNP	14 : 24729184 - 24729184 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	347	15
GLB1L3	112937	broad.mit.edu	37	11	134183877	134183877	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134183877G>A	ENST00000431683.2	+	17	1622	c.1622G>A	c.(1621-1623)gGc>gAc	p.G541D		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	541					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TCCCTGGAGGGCTTTACCATC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	79	80			NA	NA	11		NA											NA				134183877		1900	4123	6023	SO:0001583	missense				CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105	112937	112937			25147	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_138416	NM_001080407	NA	Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1622G>A	11.37:g.134183877G>A	ENSP00000396615:p.Gly541Asp	NA	A6NEM0|A6NN15|Q6P3S3|Q96FF8	37	CCDS44780.1	.	.	.	.	.	.	.	.	.	.	G	1.367	-0.587026	0.03827	.	.	ENSG00000166105	ENST00000431683	D	0.95069	-3.6	4.78	-5.28	0.02755	Galactose-binding domain-like (1);	1.474610	0.03748	N	0.256133	D	0.87892	0.6292	L	0.27975	0.815	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.78091	-0.2339	10	0.11485	T	0.65	.	9.6803	0.40065	0.7087:0.1231:0.1682:0.0	.	541	Q8NCI6	GLBL3_HUMAN	D	541	ENSP00000396615:G541D	ENSP00000396615:G541D	G	+	2	0	GLB1L3	133689087	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.596000	0.05720	-0.990000	0.03481	-0.471000	0.05019	GGC	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393625.1		+	ENST00000431683.2	Missense_Mutation	SNP	11 : 134183877 - 134183877 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	94	20
LINGO4	339398	broad.mit.edu	37	1	151773618	151773618	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151773618G>A	ENST00000368820.3	-	2	2500	c.1563C>T	c.(1561-1563)atC>atT	p.I521I		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	521						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAGGCCCTGGGATCCCTGGCA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	148	146			NA	NA	1		NA											NA				151773618		2203	4300	6503	SO:0001819	synonymous_variant				CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171	339398	339398		Immunoglobulin superfamily / I-set domain containing	31814	protein-coding gene	gene with protein product		609794	leucine rich repeat neuronal 6D	LRRN6D	NA		Standard	XM_291387	NM_001004432	NA	Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.1563C>T	1.37:g.151773618G>A		NA		37	CCDS30855.1																																																																																			LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000036639.1		-	ENST00000368820.3	Silent	SNP	1 : 151773618 - 151773618 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1217	219
ANK2	287	broad.mit.edu	37	4	114158175	114158175	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114158175G>T	ENST00000357077.4	+	6	569	c.516G>T	c.(514-516)caG>caT	p.Q172H	ANK2_ENST00000506722.1_Missense_Mutation_p.Q151H|ANK2_ENST00000394537.3_Missense_Mutation_p.Q172H|ANK2_ENST00000264366.6_Missense_Mutation_p.Q172H	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	172					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGGCACTCCAGCAAGGACACA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	129	131			NA	NA	4		NA											NA				114158175		2203	4300	6503	SO:0001583	missense			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362	287	287		Ankyrin repeat domain containing	493	protein-coding gene	gene with protein product		106410	long (electrocardiographic) QT syndrome 4	LQT4	NA	7485162, 12571597	Standard	NM_001148	NM_001148	NA	Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.516G>T	4.37:g.114158175G>T	ENSP00000349588:p.Gln172His	NA	Q01485|Q08AC7|Q08AC8|Q7Z3L5	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072752	0.76415	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000515034	T;T;T;T;T;T;T;T	0.65732	-0.17;0.6;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	5.57	3.79	0.43588	Ankyrin repeat-containing domain (4);	0.000000	0.48767	D	0.000163	T	0.66839	0.2830	L	0.28400	0.85	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.991;1.0;0.999;0.998	D;D;D;D;D	0.87578	0.998;0.917;0.998;0.99;0.953	T	0.69143	-0.5223	10	0.66056	D	0.02	.	10.8166	0.46580	0.2606:0.0:0.7394:0.0	.	172;172;172;151;151	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	H	151;151;151;187;172;172;172;151;37	ENSP00000423799:Q151H;ENSP00000421011:Q151H;ENSP00000421067:Q151H;ENSP00000424722:Q187H;ENSP00000378044:Q172H;ENSP00000349588:Q172H;ENSP00000264366:Q172H;ENSP00000421059:Q37H	ENSP00000264366:Q172H	Q	+	3	2	ANK2	114377624	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.724000	0.47285	1.453000	0.47775	0.650000	0.86243	CAG	ANK2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256422.2		+	ENST00000357077.4	Missense_Mutation	SNP	4 : 114158175 - 114158175 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	633	99
DYNC2H1	79659	broad.mit.edu	37	11	103062952	103062952	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103062952T>G	ENST00000375735.2	+	47	7811	c.7667T>G	c.(7666-7668)tTt>tGt	p.F2556C	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.F2556C	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2556					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ACATCAGTGTTTCAAGGAGAT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	61	62			NA	NA	11		NA											NA				103062952		1839	4093	5932	SO:0001583	missense			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240	79659	79659		Cytoplasmic dyneins	2962	protein-coding gene	gene with protein product		603297	dynein, cytoplasmic, heavy polypeptide 2	DNCH2	NA	9763680, 9373155	Standard	XM_370652	NM_001080463	NA	Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.7667T>G	11.37:g.103062952T>G	ENSP00000364887:p.Phe2556Cys	NA	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	T	17.30	3.354833	0.61293	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.28666	1.6;1.6	5.73	5.73	0.89815	.	.	.	.	.	T	0.38612	0.1047	L	0.40543	1.245	0.36516	D	0.869866	P;P	0.45531	0.78;0.86	B;P	0.50440	0.325;0.641	T	0.41893	-0.9483	9	0.51188	T	0.08	.	16.3197	0.82945	0.0:0.0:0.0:1.0	.	2556;2556	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	C	2556	ENSP00000364887:F2556C;ENSP00000381167:F2556C	ENSP00000364887:F2556C	F	+	2	0	DYNC2H1	102568162	1.000000	0.71417	1.000000	0.80357	0.316000	0.28119	7.682000	0.84083	2.302000	0.77476	0.533000	0.62120	TTT	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387196.1		+	ENST00000375735.2	Missense_Mutation	SNP	11 : 103062952 - 103062952 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	103	21
EXTL1	2134	broad.mit.edu	37	1	26349755	26349755	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26349755G>A	ENST00000374280.3	+	1	1485	c.618G>A	c.(616-618)ccG>ccA	p.P206P	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	206					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		AAGCCCACCCGTTGCGAGGTG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	17	17			NA	NA	1		NA											NA				26349755		2201	4295	6496	SO:0001819	synonymous_variant			U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2134	2134	2.4.1.224	Exostosin glycosyltransferase family	3515	protein-coding gene	gene with protein product	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase, alpha-N-acetylglucosaminyltransferase II, glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase, exostosin-L	601738	exostoses (multiple)-like 1		NA	9037597	Standard	NM_004455	NM_004455	NA	Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.618G>A	1.37:g.26349755G>A		NA	Q6GSC1	37	CCDS271.1																																																																																			EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019749.1		+	ENST00000374280.3	Silent	SNP	1 : 26349755 - 26349755 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	160	36
RPL7A	6130	broad.mit.edu	37	9	136218201	136218201	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136218201C>T	ENST00000323345.6	+	8	811	c.781C>T	c.(781-783)Ctt>Ttt	p.L261F	RPL7A_ENST00000315731.4_Missense_Mutation_p.L146F|RPL7A_ENST00000463740.1_3'UTR	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a	261					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		GGCTAAAGAACTTGCCACTAA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	39	39			NA	NA	9		NA											NA				136218201		2203	4296	6499	SO:0001583	missense			BC005128	CCDS6965.1	9q34	2011-04-06			ENSG00000148303	ENSG00000148303	6130	6130		L ribosomal proteins	10364	protein-coding gene	gene with protein product	surfeit 3, PLA-X polypeptide, surfeit locus protein 3, 60S ribosomal protein L7a, ;, thyroid hormone receptor uncoupling protein	185640			NA	2403926, 2966065	Standard	NM_000972	NM_000972	NA	Approved	SURF3, TRUP, L7A	uc004cde.1	P62424	OTTHUMG00000020864	ENST00000323345.6:c.781C>T	9.37:g.136218201C>T	ENSP00000361076:p.Leu261Phe	NA	P11518	37	CCDS6965.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.351939	0.41700	.	.	ENSG00000148303	ENST00000323345;ENST00000315731	T;T	0.66638	0.33;-0.22	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.74329	0.3702	M	0.87097	2.86	0.80722	D	1	B	0.33280	0.405	B	0.36289	0.221	T	0.78445	-0.2201	10	0.62326	D	0.03	.	17.5815	0.87970	0.0:1.0:0.0:0.0	.	261	P62424	RL7A_HUMAN	F	261;146	ENSP00000361076:L261F;ENSP00000361071:L146F	ENSP00000361071:L146F	L	+	1	0	RPL7A	135208022	1.000000	0.71417	0.983000	0.44433	0.061000	0.15899	7.166000	0.77553	2.400000	0.81607	0.561000	0.74099	CTT	RPL7A-009	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054869.1		+	ENST00000323345.6	Missense_Mutation	SNP	9 : 136218201 - 136218201 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	151	30
TRMT11	60487	broad.mit.edu	37	6	126332478	126332478	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:126332478G>A	ENST00000368332.3	+	9	912	c.840G>A	c.(838-840)gaG>gaA	p.E280E	TRMT11_ENST00000334379.5_Silent_p.E280E			Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	280					tRNA processing		methyltransferase activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		ATGGTTTAGAGAAGTATTACC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	86	94			NA	NA	6		NA											NA				126332478		2203	4300	6503	SO:0001819	synonymous_variant			AF182423	CCDS35496.1	6q11.1-q22.33	2009-06-15	2006-11-28	2006-11-28	ENSG00000066651	ENSG00000066651	60487	60487			21080	protein-coding gene	gene with protein product			chromosome 6 open reading frame 75	C6orf75	NA		Standard	NM_021820	XM_006715546	NA	Approved	MDS024, dJ187J11.2, TRM11, TRMT11-1	uc003qam.3	Q7Z4G4	OTTHUMG00000015515	ENST00000368332.3:c.840G>A	6.37:g.126332478G>A		NA	E1P570|Q5JY11|Q6PGQ5|Q9HC13	37		.	.	.	.	.	.	.	.	.	.	G	8.646	0.897034	0.17686	.	.	ENSG00000066651	ENST00000453993	T	0.45276	0.9	5.62	3.85	0.44370	.	0.000000	0.85682	D	0.000000	T	0.11580	0.0282	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.05616	-1.0874	7	0.07644	T	0.81	-16.5083	7.9756	0.30153	0.3331:0.0:0.6669:0.0	.	.	.	.	K	79	ENSP00000410498:E79K	ENSP00000410498:E79K	E	+	1	0	TRMT11	126374171	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.594000	0.36697	1.393000	0.46605	-0.137000	0.14449	GAA	TRMT11-006	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000042096.3		+	ENST00000368332.3	Silent	SNP	6 : 126332478 - 126332478 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	187	38
ZNF493	284443	broad.mit.edu	37	19	21605913	21605913	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21605913G>T	ENST00000392288.2	+	4	561	c.452G>T	c.(451-453)aGc>aTc	p.S151I	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.S23I	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	23					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ACTACCCAGAGCAAAATATTT	0.284		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	79	79			NA	NA	19		NA											NA				21605913		2203	4293	6496	SO:0001583	missense			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268	284443	284443		Zinc fingers, C2H2-type, -	23708	protein-coding gene	gene with protein product					NA		Standard	NM_175910	NM_001076678	NA	Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000392288.2:c.452G>T	19.37:g.21605913G>T	ENSP00000376110:p.Ser151Ile	NA	Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965	37	CCDS42536.1	.	.	.	.	.	.	.	.	.	.	N	11.96	1.795162	0.31777	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.09817	3.21;2.94	0.916	0.916	0.19373	.	.	.	.	.	T	0.22085	0.0532	M	0.82323	2.585	0.24499	N	0.994266	B;D	0.53151	0.246;0.958	B;P	0.51229	0.064;0.663	T	0.08351	-1.0726	9	0.72032	D	0.01	.	7.1683	0.25704	0.0:0.0:1.0:0.0	.	23;151	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	I	151;23	ENSP00000376110:S151I;ENSP00000347691:S23I	ENSP00000347691:S23I	S	+	2	0	ZNF493	21397753	0.000000	0.05858	0.212000	0.23672	0.213000	0.24496	-3.047000	0.00630	0.300000	0.22699	0.305000	0.20034	AGC	ZNF493-002	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280562.1		+	ENST00000392288.2	Missense_Mutation	SNP	19 : 21605913 - 21605913 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	506	100
CHD7	55636	broad.mit.edu	37	8	61750324	61750324	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61750324C>A	ENST00000423902.2	+	18	4762	c.4283C>A	c.(4282-4284)gCt>gAt	p.A1428D	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1428	Helicase C-terminal.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TTCGACAAGGCTAGTTTGAAA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	54	55			NA	NA	8		NA											NA				61750324		1831	4076	5907	SO:0001583	missense			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316	55636	55636			20626	protein-coding gene	gene with protein product		608892	CHARGE association	CRG	NA	15300250, 18834967	Standard	XM_098762	NM_017780	NA	Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.4283C>A	8.37:g.61750324C>A	ENSP00000392028:p.Ala1428Asp	NA	Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	C	34	5.307885	0.95629	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.77358	-1.09	5.83	5.83	0.93111	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92489	0.7615	H	0.96489	3.83	0.80722	D	1	D	0.56035	0.974	D	0.74348	0.983	D	0.94000	0.7274	10	0.87932	D	0	-15.5774	20.1338	0.98010	0.0:1.0:0.0:0.0	.	1428	Q9P2D1	CHD7_HUMAN	D	1428	ENSP00000392028:A1428D	ENSP00000307304:A1428D	A	+	2	0	CHD7	61912878	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.818000	0.86416	2.770000	0.95276	0.655000	0.94253	GCT	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383468.2		+	ENST00000423902.2	Missense_Mutation	SNP	8 : 61750324 - 61750324 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	125	22
ZNF407	55628	broad.mit.edu	37	18	72775296	72775296	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72775296C>T	ENST00000299687.5	+	8	5619	c.5619C>T	c.(5617-5619)gaC>gaT	p.D1873D		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1873					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AGGGCTACGACGGGGAGTTTG	0.687		NA											c	1	5e-04	0.002	NA	2184	NA	0.9995	,	,	NA	4e-04	NA	NA	NA	7e-04	0.6392	LOWCOV,EXOME	NA	NA	9e-04	SNP								NA				0													27	37	34			NA	NA	18		NA											NA				72775296		2058	4187	6245	SO:0001819	synonymous_variant			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421	55628	55628		Zinc fingers, C2H2-type	19904	protein-coding gene	gene with protein product		615894			NA	11214970	Standard	NM_017757	NM_017757	NA	Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5619C>T	18.37:g.72775296C>T		NA	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	37	CCDS45885.1																																																																																			ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444903.1		+	ENST00000299687.5	Silent	SNP	18 : 72775296 - 72775296 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	282	65
FRYL	285527	broad.mit.edu	37	4	48503735	48503735	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48503735G>A	ENST00000503238.1	-	59	8496	c.8497C>T	c.(8497-8499)Cga>Tga	p.R2833*	FRYL_ENST00000264319.7_Nonsense_Mutation_p.R223*|FRYL_ENST00000537810.1_Nonsense_Mutation_p.R2833*|FRYL_ENST00000507873.2_Nonsense_Mutation_p.R223*|FRYL_ENST00000358350.4_Nonsense_Mutation_p.R2833*			O94915	FRYL_HUMAN	FRY-like	2833					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TATAATCTTCGGCAGAGCTCC	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	136	138			NA	NA	4		NA											NA				48503735		1803	4078	5881	SO:0001587	stop_gained			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539	285527	285527			29127	protein-coding gene	gene with protein product			KIAA0826, furry homolog-like (Drosophila)	KIAA0826	NA	10048485	Standard		NM_015030	NA	Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.8497C>T	4.37:g.48503735G>A	ENSP00000426064:p.Arg2833*	NA	O95640|Q8WTZ5|Q9NT40	37	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	53	20.455387	0.99931	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	.	.	.	5.45	4.53	0.55603	.	0.000000	0.64402	U	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8329	0.70162	0.0:0.0:0.8146:0.1854	.	.	.	.	X	2833;2833;2833;223;223	.	ENSP00000264319:R223X	R	-	1	2	FRYL	48198492	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.270000	0.78493	1.216000	0.43427	0.484000	0.47621	CGA	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369265.2		-	ENST00000503238.1	Nonsense_Mutation	SNP	4 : 48503735 - 48503735 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	668	123
DDR1	780	broad.mit.edu	37	6	30860156	30860156	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30860156C>A	ENST00000508312.1	+	8	1242	c.990C>A	c.(988-990)gcC>gcA	p.A330A	DDR1_ENST00000324771.8_Silent_p.A312A|DDR1_ENST00000376569.3_Silent_p.A312A|DDR1_ENST00000454612.2_Silent_p.A312A|DDR1_ENST00000452441.1_Silent_p.A312A|DDR1_ENST00000376570.4_Silent_p.A312A|DDR1_ENST00000376568.3_Silent_p.A312A|DDR1_ENST00000376567.2_Silent_p.A312A|DDR1_ENST00000418800.2_Silent_p.A312A|DDR1_ENST00000376575.3_Silent_p.A312A|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000361741.4_Silent_p.A43A|DDR1_ENST00000513240.1_Silent_p.A312A	NM_001202523.1	NP_001189452.1	Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	312					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CTGCCATGGCCTGGGAGGGGG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	36	36			NA	NA	6		NA											NA				30860156		2202	4299	6501	SO:0001819	synonymous_variant			X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	780	780	2.7.10.1	CD molecules	2730	protein-coding gene	gene with protein product		600408	discoidin domain receptor family, member 1	NTRK4, PTK3A, NEP, CAK, EDDR1	NA	7789998	Standard	NM_013994	NM_001954	NA	Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000508312.1:c.990C>A	6.37:g.30860156C>A		NA	B5A975|B5A976|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	37	CCDS56411.1																																																																																			DDR1-020	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369045.2		+	ENST00000508312.1	Silent	SNP	6 : 30860156 - 30860156 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	388	75
SMYD2	56950	broad.mit.edu	37	1	214501057	214501057	+	Missense_Mutation	SNP	C	C	T	rs140909791		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214501057C>T	ENST00000366957.5	+	7	717	c.695C>T	c.(694-696)cCg>cTg	p.P232L	SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000415093.2_Missense_Mutation_p.P232L	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	232	SET.				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		GAAATCAAGCCGGGAGAGGAG	0.507		NA									OREG0004276	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	92	92			NA	NA	1		NA											NA				214501057		2203	4300	6503	SO:0001583	missense			AF226053	CCDS31022.1	1q32.3	2011-07-01			ENSG00000143499	ENSG00000143499	56950	56950		Zinc fingers, MYND-type, Chromatin-modifying enzymes / K-methyltransferases	20982	protein-coding gene	gene with protein product		610663			NA		Standard	NM_020197	NM_020197	NA	Approved	HSKM-B, ZMYND14, KMT3C	uc021pix.1	Q9NRG4	OTTHUMG00000037066	ENST00000366957.5:c.695C>T	1.37:g.214501057C>T	ENSP00000355924:p.Pro232Leu	2221	B2R9P9|Q4V765|Q5VSH9|Q96AI4	37	CCDS31022.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570763	0.65765	.	.	ENSG00000143499	ENST00000366957;ENST00000415093	D;D	0.82803	-1.65;-1.65	5.64	5.64	0.86602	SET domain (3);	0.048193	0.85682	D	0.000000	D	0.86326	0.5906	L	0.45285	1.41	0.80722	D	1	P;D	0.89917	0.828;1.0	B;P	0.58210	0.177;0.835	D	0.84064	0.0376	10	0.32370	T	0.25	0.2157	19.6851	0.95977	0.0:1.0:0.0:0.0	.	232;216	Q9NRG4;Q05C86	SMYD2_HUMAN;.	L	232	ENSP00000355924:P232L;ENSP00000388682:P232L	ENSP00000355924:P232L	P	+	2	0	SMYD2	212567680	1.000000	0.71417	0.338000	0.25549	0.881000	0.50899	7.449000	0.80643	2.645000	0.89757	0.655000	0.94253	CCG	SMYD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089998.1		+	ENST00000366957.5	Missense_Mutation	SNP	1 : 214501057 - 214501057 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	66
HIPK4	147746	broad.mit.edu	37	19	40889760	40889760	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40889760C>T	ENST00000291823.2	-	2	1036	c.752G>A	c.(751-753)cGc>cAc	p.R251H		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	251	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GTGGGGGTTGCGCTTGAAGAA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	69	68			NA	NA	19		NA											NA				40889760		2203	4300	6503	SO:0001583	missense			BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396	147746	147746			19007	protein-coding gene	gene with protein product		611712			NA		Standard	NM_144685	NM_144685	NA	Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.752G>A	19.37:g.40889760C>T	ENSP00000291823:p.Arg251His	NA	A8K863|Q96M54	37	CCDS12555.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665394	0.88251	.	.	ENSG00000160396	ENST00000291823;ENST00000452139	T	0.20463	2.07	5.97	4.91	0.64330	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.442639	0.21619	N	0.071672	T	0.33381	0.0861	L	0.41415	1.275	0.29641	N	0.844739	D	0.63046	0.992	P	0.59643	0.861	T	0.17440	-1.0369	10	0.72032	D	0.01	.	13.5773	0.61881	0.1558:0.8442:0.0:0.0	.	251	Q8NE63	HIPK4_HUMAN	H	251;216	ENSP00000291823:R251H	ENSP00000291823:R251H	R	-	2	0	HIPK4	45581600	0.977000	0.34250	0.999000	0.59377	0.818000	0.46254	2.702000	0.47102	1.472000	0.48140	0.655000	0.94253	CGC	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462593.1		-	ENST00000291823.2	Missense_Mutation	SNP	19 : 40889760 - 40889760 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	455	71
MKI67	4288	broad.mit.edu	37	10	129914033	129914033	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129914033G>A	ENST00000368654.3	-	7	1014	c.639C>T	c.(637-639)agC>agT	p.S213S	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	213					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTCCATAACGGCTCACTAATT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	90	90			NA	NA	10		NA											NA				129914033		2203	4300	6503	SO:0001819	synonymous_variant			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773	4288	4288			7107	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 105	176741	antigen identified by monoclonal antibody Ki-67		NA	2571566, 16206250	Standard	NM_002417	NM_002417	NA	Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.639C>T	10.37:g.129914033G>A		NA	Q5VWH2	37	CCDS7659.1																																																																																			MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050999.1		-	ENST00000368654.3	Silent	SNP	10 : 129914033 - 129914033 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	399	70
AMPD3	272	broad.mit.edu	37	11	10506432	10506432	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10506432G>A	ENST00000396554.3	+	5	1023	c.682G>A	c.(682-684)Gat>Aat	p.D228N	AMPD3_ENST00000444303.2_Missense_Mutation_p.D60N	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	219					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CCCCAACCTGGATTACTTGGT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	90	96			NA	NA	11		NA											NA				10506432		2201	4294	6495	SO:0001583	missense			M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	272	272	3.5.4.6		470	protein-coding gene	gene with protein product	erythrocyte-specific AMP deaminase	102772	adenosine monophosphate deaminase (isoform E)		NA	1400401	Standard	NM_000480	NM_001172430	NA	Approved		uc001min.1	Q01432		ENST00000396554.3:c.682G>A	11.37:g.10506432G>A	ENSP00000379802:p.Asp228Asn	NA	B7Z877	37	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247013	0.39697	.	.	ENSG00000133805	ENST00000444303;ENST00000396554;ENST00000524866;ENST00000396553;ENST00000528723;ENST00000529507	D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.68	5.68	0.88126	.	0.324654	0.40554	N	0.001072	T	0.60676	0.2287	N	0.01817	-0.705	0.34621	D	0.718609	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.62501	-0.6841	10	0.08381	T	0.77	-6.4747	15.2918	0.73870	0.0:0.1395:0.8605:0.0	.	226;219;228	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	N	60;228;219;219;226;219	ENSP00000396000:D60N;ENSP00000379802:D228N;ENSP00000433284:D219N;ENSP00000379801:D219N;ENSP00000436987:D226N;ENSP00000431648:D219N	ENSP00000379801:D219N	D	+	1	0	AMPD3	10463008	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.853000	0.55941	2.692000	0.91855	0.561000	0.74099	GAT	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385783.2		+	ENST00000396554.3	Missense_Mutation	SNP	11 : 10506432 - 10506432 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	488	90
BFAR	51283	broad.mit.edu	37	16	14738367	14738367	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14738367G>A	ENST00000563971.1	+	2	325	c.164G>A	c.(163-165)cGt>cAt	p.R55H	BFAR_ENST00000261658.2_Missense_Mutation_p.R55H|BFAR_ENST00000426842.2_5'UTR			Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	55					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						AGCTTCTGCCGTCACTGCCTT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	133	137			NA	NA	16		NA											NA				14738367		2197	4300	6497	SO:0001583	missense			AF173003	CCDS10554.1	16p13.2	2013-01-10			ENSG00000103429	ENSG00000103429	51283	51283		RING-type (C3HC4) zinc fingers, Sterile alpha motif (SAM) domain containing	17613	protein-coding gene	gene with protein product					NA	10716992	Standard	NM_016561	NM_016561	NA	Approved	BAR, RNF47	uc002dco.3	Q9NZS9	OTTHUMG00000129848	ENST00000563971.1:c.164G>A	16.37:g.14738367G>A	ENSP00000454476:p.Arg55His	NA	A8K4Z9|D3DUG8	37		.	.	.	.	.	.	.	.	.	.	G	35	5.520793	0.96416	.	.	ENSG00000103429	ENST00000261658	T	0.08193	3.12	6.02	6.02	0.97574	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.32526	0.0832	M	0.74467	2.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.00536	-1.1683	10	0.87932	D	0	.	19.5077	0.95125	0.0:0.0:1.0:0.0	.	55;55;55	B2R9R6;Q9NZS9;B4DLM6	.;BFAR_HUMAN;.	H	55	ENSP00000261658:R55H	ENSP00000261658:R55H	R	+	2	0	BFAR	14645868	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.593000	0.98250	2.855000	0.98099	0.655000	0.94253	CGT	BFAR-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000422399.1		+	ENST00000563971.1	Missense_Mutation	SNP	16 : 14738367 - 14738367 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	831	174
SRCAP	10847	broad.mit.edu	37	16	30750367	30750367	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30750367A>G	ENST00000262518.4	+	34	9391	c.9006A>G	c.(9004-9006)ccA>ccG	p.P3002P	SRCAP_ENST00000395059.2_Silent_p.P2940P|SRCAP_ENST00000344771.4_Silent_p.P2844P	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	3002	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CAACGTCCCCACCCAAACGGA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	115	126			NA	NA	16		NA											NA				30750367		2197	4300	6497	SO:0001819	synonymous_variant			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603	10847	10847			16974	protein-coding gene	gene with protein product	Swi2/Snf2-related ATPase homolog (S. cerevisiae), domino homolog 1 (Drosophila)	611421			NA	10347196, 9205841	Standard	NM_006662	NM_006662	NA	Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.9006A>G	16.37:g.30750367A>G		NA	B0JZA6|O15026|Q7Z744|Q9Y5L9	37	CCDS10689.2																																																																																			SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255523.1		+	ENST00000262518.4	Silent	SNP	16 : 30750367 - 30750367 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	400	52
LCE1D	353134	broad.mit.edu	37	1	152770417	152770417	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152770417C>A	ENST00000326233.6	+	2	190	c.147C>A	c.(145-147)ggC>ggA	p.G49G		NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	49	Cys-rich.				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGCTGTGGCTCCAGCTCTG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	31	31			NA	NA	1		NA											NA				152770417		2159	4152	6311	SO:0001819	synonymous_variant				CCDS1025.1	1q21.3	2008-02-05			ENSG00000172155	ENSG00000172155	353134	353134		Late cornified envelopes	29465	protein-coding gene	gene with protein product		612606			NA	11698679	Standard	NM_178352	NM_178352	NA	Approved	LEP4	uc009wnp.3	Q5T752	OTTHUMG00000012444	ENST00000326233.6:c.147C>A	1.37:g.152770417C>A		NA		37	CCDS1025.1																																																																																			LCE1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034657.2		+	ENST00000326233.6	Silent	SNP	1 : 152770417 - 152770417 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	433	131
STAT2	6773	broad.mit.edu	37	12	56750351	56750351	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56750351G>A	ENST00000314128.4	-	2	28	c.5C>T	c.(4-6)gCg>gTg	p.A2V	STAT2_ENST00000557235.1_Missense_Mutation_p.A2V|STAT2_ENST00000418572.2_Missense_Mutation_p.A2V			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	2					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TTCCCACTGCGCCATTTGGGC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	74	78			NA	NA	12		NA											NA				56750351		2203	4300	6503	SO:0001583	missense			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581	6773	6773		SH2 domain containing	11363	protein-coding gene	gene with protein product		600556	signal transducer and activator of transcription 2, 113kD		NA	7885841	Standard	NM_005419	NM_005419	NA	Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.5C>T	12.37:g.56750351G>A	ENSP00000315768:p.Ala2Val	NA	Q16430|Q16431|Q9UDL4	37	CCDS8917.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460637	0.84317	.	.	ENSG00000170581	ENST00000314128;ENST00000557235;ENST00000553337;ENST00000418572	T;T;T	0.57752	0.38;0.38;0.38	4.85	4.85	0.62838	STAT transcription factor, protein interaction (4);	0.308797	0.34725	N	0.003727	T	0.73273	0.3566	M	0.80982	2.52	0.43714	D	0.996183	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.98;0.988;0.968	T	0.77029	-0.2739	10	0.87932	D	0	-15.0659	15.3582	0.74443	0.0:0.0:1.0:0.0	.	2;2;2	B4DLC8;G3V2M6;P52630	.;.;STAT2_HUMAN	V	2	ENSP00000315768:A2V;ENSP00000450751:A2V;ENSP00000387354:A2V	ENSP00000315768:A2V	A	-	2	0	STAT2	55036618	1.000000	0.71417	0.973000	0.42090	0.839000	0.47603	6.130000	0.71663	2.700000	0.92200	0.563000	0.77884	GCG	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410277.1		-	ENST00000314128.4	Missense_Mutation	SNP	12 : 56750351 - 56750351 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	66
IGSF10	285313	broad.mit.edu	37	3	151165609	151165609	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151165609G>A	ENST00000282466.3	-	4	2159	c.2160C>T	c.(2158-2160)aaC>aaT	p.N720N		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	720					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTCCCGATAGTTGTGCCTCT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	71	76			NA	NA	3		NA											NA				151165609		2203	4300	6503	SO:0001819	synonymous_variant			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580	285313	285313		Immunoglobulin superfamily / I-set domain containing	26384	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_178822	NM_178822	NA	Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2160C>T	3.37:g.151165609G>A		NA	Q86YJ9|Q8N772|Q8NA84	37	CCDS3160.1																																																																																			IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357782.1		-	ENST00000282466.3	Silent	SNP	3 : 151165609 - 151165609 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	306	47
NAV1	89796	broad.mit.edu	37	1	201749585	201749585	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201749585C>T	ENST00000367302.1	+	6	1536	c.1302C>T	c.(1300-1302)agC>agT	p.S434S	NAV1_ENST00000295624.6_Silent_p.S421S|NAV1_ENST00000367300.3_Silent_p.S421S|NAV1_ENST00000367297.4_Silent_p.S421S|NAV1_ENST00000367295.1_Silent_p.S30S|NAV1_ENST00000367296.4_Silent_p.S421S|IPO9-AS1_ENST00000413035.1_RNA			Q8NEY1	NAV1_HUMAN	neuron navigator 1	421					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GTGGACTCAGCGATGCCTCAG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	115	119			NA	NA	1		NA											NA				201749585		2203	4300	6503	SO:0001819	synonymous_variant			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369	89796	89796			15989	protein-coding gene	gene with protein product	neuron navigator-1, pore membrane and/or filament interacting like protein 3	611628			NA	12079279, 12062803	Standard	NM_020443	NM_020443	NA	Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367302.1:c.1302C>T	1.37:g.201749585C>T		NA	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	37																																																																																				NAV1-006	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000087018.1		+	ENST00000367302.1	Silent	SNP	1 : 201749585 - 201749585 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	480	70
TTLL1	25809	broad.mit.edu	37	22	43459836	43459836	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43459836C>T	ENST00000266254.7	-	7	970	c.730G>A	c.(730-732)Gcc>Acc	p.A244T	TTLL1_ENST00000331018.7_Missense_Mutation_p.A244T	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	244	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		TTCTGGATGGCGACGTTGGTG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													212	183	193			NA	NA	22		NA											NA				43459836		2203	4300	6503	SO:0001583	missense			AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271	25809	25809		Tubulin tyrosine ligase-like family	1312	protein-coding gene	gene with protein product		608955	tubulin tyrosine ligase-like 1	C22orf7	NA	10591208, 11054573	Standard	NM_012263	NM_012263	NA	Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.730G>A	22.37:g.43459836C>T	ENSP00000266254:p.Ala244Thr	NA	B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	37	CCDS14043.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910476	0.92107	.	.	ENSG00000100271	ENST00000331018;ENST00000266254	T;T	0.05855	3.38;3.38	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.27967	0.0689	M	0.80028	2.48	0.80722	D	1	D;D	0.76494	0.967;0.999	P;D	0.66084	0.778;0.941	T	0.00258	-1.1871	10	0.87932	D	0	.	18.6172	0.91306	0.0:1.0:0.0:0.0	.	244;244	O95922-4;O95922	.;TTLL1_HUMAN	T	244	ENSP00000333734:A244T;ENSP00000266254:A244T	ENSP00000266254:A244T	A	-	1	0	TTLL1	41789780	1.000000	0.71417	0.993000	0.49108	0.942000	0.58702	7.458000	0.80787	2.837000	0.97791	0.591000	0.81541	GCC	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319659.1		-	ENST00000266254.7	Missense_Mutation	SNP	22 : 43459836 - 43459836 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	522	92
CACNA1D	776	broad.mit.edu	37	3	53684805	53684805	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53684805G>T	ENST00000422281.2	+	4	483		c.e4-1		CACNA1D_ENST00000288139.4_Splice_Site|CACNA1D_ENST00000350061.5_Splice_Site	NM_001128839.1	NP_001122311.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	NA					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TTTCTTCACAGGAAAAAGTAG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	97	98			NA	NA	3		NA											NA				53684805		2203	4299	6502	SO:0001630	splice_region_variant			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388	776	776		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2	NA	1664412	Standard	NM_000720	NM_000720	NA	Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000422281.2:c.484-1G>T	3.37:g.53684805G>T		NA	Q13916|Q13931|Q9UDC3	37	CCDS46849.1	.	.	.	.	.	.	.	.	.	.	g	23.2	4.393114	0.83011	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2711	0.90069	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1D	53659845	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.647000	0.98478	2.545000	0.85829	0.436000	0.28706	.	CACNA1D-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350556.1	Intron	+	ENST00000422281.2	Splice_Site	SNP	3 : 53684805 - 53684805 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	468	59
SENP7	57337	broad.mit.edu	37	3	101047326	101047326	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101047326G>A	ENST00000394095.2	-	22	2913	c.2860C>T	c.(2860-2862)Cga>Tga	p.R954*	SENP7_ENST00000314261.7_Nonsense_Mutation_p.R888*|SENP7_ENST00000394091.1_Nonsense_Mutation_p.R790*|SENP7_ENST00000358203.3_Nonsense_Mutation_p.R790*|SENP7_ENST00000348610.3_Nonsense_Mutation_p.R921*|SENP7_ENST00000394094.2_Nonsense_Mutation_p.R889*|SENP7_ENST00000394085.3_Nonsense_Mutation_p.R142*	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	954	Protease.				proteolysis	nucleus	cysteine-type peptidase activity	p.R888*(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACTTACTCTCGTAAATTCTGA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Nonsense(2)	large_intestine(1)|breast(1)						G	stop/ARG,stop/ARG	0,4406		0,0,2203	84	96	92		2665,2860	4.5	1	3		92	1,8595	1.2+/-3.3	0,1,4297	no	stop-gained,stop-gained	SENP7	NM_001077203.1,NM_020654.3	,	0,1,6500	AA,AG,GG	NA	0.0116,0.0,0.0077	,	889/986,954/1051	101047326	1,13001	2203	4298	6501	SO:0001587	stop_gained				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468	57337	57337			30402	protein-coding gene	gene with protein product		612846	SUMO1/sentrin specific protease 7		NA	11214970, 11230166	Standard	NM_020654	NM_001282802	NA	Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.2860C>T	3.37:g.101047326G>A	ENSP00000377655:p.Arg954*	NA	A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	37	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	G	39	7.580735	0.98371	0.0	1.16E-4	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000394085;ENST00000348610	.	.	.	5.42	4.47	0.54385	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8682	0.57951	0.0:0.0:0.752:0.248	.	.	.	.	X	954;889;888;790;790;142;921	.	ENSP00000313624:R888X	R	-	1	2	SENP7	102530016	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.086000	0.30853	2.543000	0.85770	0.591000	0.81541	CGA	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313957.2		-	ENST00000394095.2	Nonsense_Mutation	SNP	3 : 101047326 - 101047326 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	493	86
ZNF816	125893	broad.mit.edu	37	19	53453322	53453322	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53453322T>G	ENST00000357666.4	-	5	2006	c.1706A>C	c.(1705-1707)aAa>aCa	p.K569T	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.K569T	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	569					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						CTTCGCACATTTATTACACTT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	70	69			NA	NA	19		NA											NA				53453322		2203	4300	6503	SO:0001583	missense			BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257	125893	125893		Zinc fingers, C2H2-type, -	26995	protein-coding gene	gene with protein product			zinc finger protein 816A	ZNF816A	NA		Standard	NM_001031665	NM_001031665	NA	Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.1706A>C	19.37:g.53453322T>G	ENSP00000350295:p.Lys569Thr	NA	A8K7H5|Q3KR39|Q659B3	37	CCDS33096.1	.	.	.	.	.	.	.	.	.	.	-	6.005	0.369381	0.11352	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.35605	1.3;1.3	1.79	1.79	0.24919	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22399	0.0540	N	0.10972	0.075	0.19945	N	0.999943	P	0.40066	0.701	B	0.42738	0.396	T	0.11743	-1.0575	9	0.87932	D	0	.	6.8252	0.23878	0.0:0.0:0.0:1.0	.	569	Q0VGE8	ZN816_HUMAN	T	569	ENSP00000350295:K569T;ENSP00000403266:K569T	ENSP00000350295:K569T	K	-	2	0	ZNF816	58145134	0.000000	0.05858	0.728000	0.30774	0.315000	0.28087	0.166000	0.16583	0.800000	0.34041	0.172000	0.16884	AAA	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396132.1		-	ENST00000357666.4	Missense_Mutation	SNP	19 : 53453322 - 53453322 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	479	51
MACF1	23499	broad.mit.edu	37	1	39797612	39797612	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39797612T>C	ENST00000372915.3	+	36	5454	c.5367T>C	c.(5365-5367)ctT>ctC	p.L1789L	MACF1_ENST00000289893.4_Silent_p.L224L|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Silent_p.L1821L|MACF1_ENST00000564288.1_Silent_p.L1784L|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1789					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GACACAGACTTACAGTGGAAG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	102	103			NA	NA	1		NA											NA				39797612		2203	4300	6503	SO:0001819	synonymous_variant			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603	23499	23499		EF-hand domain containing	13664	protein-coding gene	gene with protein product	actin cross-linking factor, 620 kDa actin binding protein, macrophin 1, trabeculin-alpha, actin cross-linking family protein 7	608271			NA	7635207, 10529403	Standard	NM_033044	NM_012090	NA	Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.5367T>C	1.37:g.39797612T>C		NA	E9PJT0|O75053|Q5VW20|Q8WXY2|Q9H540|Q9UKP0|Q9ULG9	37																																																																																				MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000392096.1		+	ENST00000372915.3	Silent	SNP	1 : 39797612 - 39797612 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	382	24
RAC2	5880	broad.mit.edu	37	22	37637646	37637646	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37637646C>T	ENST00000405484.1	-	2	350	c.67G>A	c.(67-69)Gga>Aga	p.G23R	RAC2_ENST00000406508.1_5'UTR|RAC2_ENST00000401529.3_Missense_Mutation_p.G30R|RAC2_ENST00000249071.6_Missense_Mutation_p.G30R			P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	30					axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						ATGTACTCTCCGGGAAAGGCG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													189	171	177			NA	NA	22		NA											NA				37637646		2203	4300	6503	SO:0001583	missense			M64595	CCDS13945.1	22q13.1	2014-09-17			ENSG00000128340	ENSG00000128340	5880	5880		Endogenous ligands	9802	protein-coding gene	gene with protein product		602049			NA	2674130	Standard		NM_002872	NA	Approved	EN-7	uc003arc.3	P15153	OTTHUMG00000150540	ENST00000405484.1:c.67G>A	22.37:g.37637646C>T	ENSP00000385590:p.Gly23Arg	NA	Q9UDJ4	37		.	.	.	.	.	.	.	.	.	.	C	15.72	2.915662	0.52546	.	.	ENSG00000128340	ENST00000249071;ENST00000405484;ENST00000441619;ENST00000401529	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.62	3.54	0.40534	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.69744	0.3145	L	0.57130	1.785	0.80722	D	1	P	0.35944	0.529	B	0.35971	0.215	T	0.70539	-0.4844	10	0.87932	D	0	.	11.6402	0.51228	0.0:0.8554:0.0:0.1446	.	30	P15153	RAC2_HUMAN	R	30;23;30;30	ENSP00000249071:G30R;ENSP00000385590:G23R;ENSP00000403778:G30R;ENSP00000385666:G30R	ENSP00000249071:G30R	G	-	1	0	RAC2	35967592	1.000000	0.71417	0.577000	0.28562	0.080000	0.17528	7.548000	0.82154	0.744000	0.32741	-0.136000	0.14681	GGA	RAC2-007	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000318818.1		-	ENST00000405484.1	Missense_Mutation	SNP	22 : 37637646 - 37637646 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	622	115
CDK5RAP3	80279	broad.mit.edu	37	17	46052879	46052879	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46052879G>A	ENST00000536708.2	+	7	697		c.e7-1		CDK5RAP3_ENST00000338399.4_Splice_Site	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	NA					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						CCCCTCTCTAGGGCGAAAATG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	54	52			NA	NA	17		NA											NA				46052879		2075	4219	6294	SO:0001630	splice_region_variant			AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465	80279	80279			18673	protein-coding gene	gene with protein product	ischemic heart CDK5 activator-binding protein C53, LXXLL/leucine-zipper-containing ARFbinding protein	608202			NA	10721722	Standard	NM_176096	NM_176096	NA	Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000536708.2:c.589-1G>A	17.37:g.46052879G>A		NA	D3DTU1|D3DTU2|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	37		.	.	.	.	.	.	.	.	.	.	G	14.24	2.475090	0.43942	.	.	ENSG00000108465	ENST00000536708;ENST00000338399	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9577	0.89074	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDK5RAP3	43407878	1.000000	0.71417	0.998000	0.56505	0.233000	0.25261	8.986000	0.93492	2.547000	0.85894	0.655000	0.94253	.	CDK5RAP3-010	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000442910.1	Intron	+	ENST00000536708.2	Splice_Site	SNP	17 : 46052879 - 46052879 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	66
PTF1A	256297	broad.mit.edu	37	10	23481479	23481479	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23481479A>T	ENST00000376504.3	+	1	224	c.20A>T	c.(19-21)gAg>gTg	p.E7V		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	7					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						GTGTTGCTGGAGCACTTCCCC	0.647		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	10		NA											NA				23481479		2203	4300	6503	SO:0001583	missense			BK000272	CCDS7143.1	10p12.31	2013-05-21			ENSG00000168267	ENSG00000168267	256297	256297		Basic helix-loop-helix proteins	23734	protein-coding gene	gene with protein product		607194			NA	8703005	Standard	NM_178161	NM_178161	NA	Approved	PTF1-p48, bHLHa29	uc001irp.3	Q7RTS3	OTTHUMG00000017815	ENST00000376504.3:c.20A>T	10.37:g.23481479A>T	ENSP00000365687:p.Glu7Val	NA	Q9HC25	37	CCDS7143.1	.	.	.	.	.	.	.	.	.	.	A	19.76	3.887566	0.72410	.	.	ENSG00000168267	ENST00000376504	D	0.96073	-3.9	2.96	2.96	0.34315	.	0.140467	0.46442	U	0.000299	D	0.93245	0.7848	L	0.27053	0.805	0.40935	D	0.984423	D	0.64830	0.994	P	0.53266	0.722	D	0.93282	0.6661	10	0.87932	D	0	-12.742	10.8941	0.47012	1.0:0.0:0.0:0.0	.	7	Q7RTS3	PTF1A_HUMAN	V	7	ENSP00000365687:E7V	ENSP00000365687:E7V	E	+	2	0	PTF1A	23521485	1.000000	0.71417	0.999000	0.59377	0.641000	0.38312	8.002000	0.88514	1.222000	0.43521	0.260000	0.18958	GAG	PTF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047210.1		+	ENST00000376504.3	Missense_Mutation	SNP	10 : 23481479 - 23481479 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	410	57
RAPGEF5	9771	broad.mit.edu	37	7	22190035	22190035	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:22190035G>A	ENST00000401957.2	-	8	1212	c.965C>T	c.(964-966)gCg>gTg	p.A322V	RAPGEF5_ENST00000344041.6_Missense_Mutation_p.A472V			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	322					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						CAAAGTGTCCGCCAGGTCTTT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	112	112			NA	NA	7		NA											NA				22190035		1865	4105	5970	SO:0001583	missense			D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237	9771	9771			16862	protein-coding gene	gene with protein product	M-Ras-regulated GEF	609527			NA	9039502, 10486569	Standard	NM_012294	NM_012294	NA	Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000401957.2:c.965C>T	7.37:g.22190035G>A	ENSP00000384044:p.Ala322Val	NA	A4D140|Q8IXU5	37		.	.	.	.	.	.	.	.	.	.	G	10.58	1.389773	0.25118	.	.	ENSG00000136237	ENST00000344041;ENST00000425852;ENST00000401957	T;T	0.48836	1.29;0.8	5.86	5.86	0.93980	Ras guanine nucleotide exchange factor, domain (1);	0.259043	0.43919	D	0.000519	T	0.24431	0.0592	N	0.08118	0	0.31107	N	0.710363	B;P	0.38048	0.001;0.616	B;B	0.24974	0.002;0.057	T	0.11767	-1.0574	10	0.14252	T	0.57	.	17.7179	0.88343	0.0:0.0:1.0:0.0	.	322;472	Q92565;A8MQ07	RPGF5_HUMAN;.	V	472;324;322	ENSP00000343656:A472V;ENSP00000384044:A322V	ENSP00000343656:A472V	A	-	2	0	RAPGEF5	22156560	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	2.972000	0.49256	2.937000	0.99478	0.650000	0.86243	GCG	RAPGEF5-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000326590.2		-	ENST00000401957.2	Missense_Mutation	SNP	7 : 22190035 - 22190035 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	496	89
ABCG1	9619	broad.mit.edu	37	21	43716283	43716283	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43716283C>T	ENST00000398437.1	+	16	2404	c.2256C>T	c.(2254-2256)ttC>ttT	p.F752F	ABCG1_ENST00000398457.2_Silent_p.F596F|ABCG1_ENST00000340588.4_Silent_p.F714F|ABCG1_ENST00000398449.3_Silent_p.F594F|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000361802.2_Silent_p.F606F|ABCG1_ENST00000347800.2_Silent_p.F591F|ABCG1_ENST00000343687.3_Silent_p.F605F			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	606					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	p.F596F(2)|p.F606F(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GGTATGGGTTCGAAGGGGTCA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				4	Substitution - coding silent(4)	large_intestine(4)											110	90	97			NA	NA	21		NA											NA				43716283		2203	4300	6503	SO:0001819	synonymous_variant			U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179	9619	9619		ATP binding cassette transporters / subfamily G	73	protein-coding gene	gene with protein product	ATP-binding cassette transporter 8	603076			NA	8659545, 16870176	Standard	NM_207174	NM_016818	NA	Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000398437.1:c.2256C>T	21.37:g.43716283C>T		NA	Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	37																																																																																				ABCG1-008	KNOWN	non_canonical_TEC|basic	protein_coding	NA	protein_coding	OTTHUMT00000195320.1		+	ENST00000398437.1	Silent	SNP	21 : 43716283 - 43716283 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	298	67
CYP27C1	339761	broad.mit.edu	37	2	127958808	127958808	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:127958808C>T	ENST00000335247.7	-	3	408	c.278G>A	c.(277-279)aGc>aAc	p.S93N	CYP27C1_ENST00000409327.1_Missense_Mutation_p.S93N	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	93						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		CTTGAACATGCTAAACATGAG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	115	116			NA	NA	2		NA											NA				127958808		2203	4300	6503	SO:0001583	missense			AC027142	CCDS33285.1	2q14.3	2008-05-14	2007-05-18		ENSG00000186684	ENSG00000186684	339761	339761		Cytochrome P450s	33480	protein-coding gene	gene with protein product					NA		Standard	NM_001001665	NM_001001665	NA	Approved	FLJ16008	uc002tod.2	Q4G0S4	OTTHUMG00000153400	ENST00000335247.7:c.278G>A	2.37:g.127958808C>T	ENSP00000334128:p.Ser93Asn	NA	Q6ZNI7	37	CCDS33285.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943301	0.73672	.	.	ENSG00000186684	ENST00000335247;ENST00000409327	T;T	0.69175	-0.38;-0.38	3.74	3.74	0.42951	.	0.047866	0.85682	D	0.000000	T	0.62466	0.2430	N	0.20845	0.615	0.44852	D	0.997866	D	0.56287	0.975	P	0.52856	0.711	T	0.65340	-0.6192	10	0.39692	T	0.17	-15.14	15.8937	0.79322	0.0:1.0:0.0:0.0	.	93	Q4G0S4	C27C1_HUMAN	N	93	ENSP00000334128:S93N;ENSP00000387198:S93N	ENSP00000334128:S93N	S	-	2	0	CYP27C1	127675278	1.000000	0.71417	0.997000	0.53966	0.676000	0.39594	6.364000	0.73086	1.797000	0.52628	0.561000	0.74099	AGC	CYP27C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331046.1		-	ENST00000335247.7	Missense_Mutation	SNP	2 : 127958808 - 127958808 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	563	101
MATN2	4147	broad.mit.edu	37	8	99039839	99039839	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99039839A>G	ENST00000521689.1	+	14	2612	c.2138A>G	c.(2137-2139)aAc>aGc	p.N713S	MATN2_ENST00000522025.2_Missense_Mutation_p.N429S|MATN2_ENST00000524308.1_Missense_Mutation_p.N672S|RPL30_ENST00000518164.1_Intron|MATN2_ENST00000520016.1_Missense_Mutation_p.N713S|MATN2_ENST00000254898.5_Missense_Mutation_p.N713S			O00339	MATN2_HUMAN	matrilin 2	713	VWFA 2.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			AGAAACTTCAACTCAGCCAAA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	63	63			NA	NA	8		NA											NA				99039839		1862	4108	5970	SO:0001583	missense			U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15					4147	4147			6908	protein-coding gene	gene with protein product		602108			NA	9083061, 11852232	Standard		XM_005250920	NA	Approved		uc003yic.3	O00339		ENST00000521689.1:c.2138A>G	8.37:g.99039839A>G	ENSP00000429977:p.Asn713Ser	NA	A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	37	CCDS55265.1	.	.	.	.	.	.	.	.	.	.	A	4.471	0.087380	0.08583	.	.	ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000522025;ENST00000520016	D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59	5.24	1.14	0.20703	von Willebrand factor, type A (3);	0.432631	0.23966	N	0.042813	T	0.56262	0.1973	N	0.05230	-0.09	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.50110	-0.8866	10	0.02654	T	1	-9.1721	6.1465	0.20289	0.279:0.12:0.6009:0.0	.	713;713;713	E9PF03;O00339-2;O00339	.;.;MATN2_HUMAN	S	713;713;672;672;429;713	ENSP00000429977:N713S;ENSP00000254898:N713S;ENSP00000430221:N672S;ENSP00000429010:N429S;ENSP00000430487:N713S	ENSP00000254898:N713S	N	+	2	0	MATN2	99109015	0.934000	0.31675	0.995000	0.50966	0.992000	0.81027	0.216000	0.17585	0.233000	0.21120	0.454000	0.30748	AAC	MATN2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380327.1		+	ENST00000521689.1	Missense_Mutation	SNP	8 : 99039839 - 99039839 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	250	50
TRERF1	55809	broad.mit.edu	37	6	42196272	42196272	+	Silent	SNP	G	G	A	rs150908395		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42196272G>A	ENST00000372922.4	-	18	3976	c.3414C>T	c.(3412-3414)ccC>ccT	p.P1138P	TRERF1_ENST00000372917.4_Silent_p.P1067P|TRERF1_ENST00000340840.2_Silent_p.P1067P|TRERF1_ENST00000354325.2_Silent_p.P1055P|TRERF1_ENST00000541110.1_Silent_p.P1158P	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1138	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.P1138P(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCGCCCCCACGGGCCCCGTAG	0.602		NA												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)						G		0,4406		0,0,2203	141	165	157		3414	-8.8	0.2	6	dbSNP_134	157	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TRERF1	NM_033502.2		0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154		1138/1201	42196272	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496	55809	55809			18273	protein-coding gene	gene with protein product		610322	breast cancer anti-estrogen resistance 2	BCAR2	NA	11349124	Standard	NM_033502	XM_005249223	NA	Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.3414C>T	6.37:g.42196272G>A		NA	Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	37	CCDS4867.1																																																																																			TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040551.2		-	ENST00000372922.4	Silent	SNP	6 : 42196272 - 42196272 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1884	57
NUDCD3	23386	broad.mit.edu	37	7	44425626	44425626	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44425626C>T	ENST00000355451.7	-	6	1349	c.1070G>A	c.(1069-1071)gGg>gAg	p.G357E	NUDCD3_ENST00000460110.1_5'UTR	NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	NA										endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						CTGCACAGCCCCCGGGGAGAT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	64	65			NA	NA	7		NA											NA				44425626		2203	4300	6503	SO:0001583	missense			BC003691	CCDS5490.2	7p13-p12	2005-03-18			ENSG00000015676	ENSG00000015676	23386	23386			22208	protein-coding gene	gene with protein product		610296			NA		Standard	NM_015332	NM_015332	NA	Approved	KIAA1068	uc003tkz.3	Q8IVD9	OTTHUMG00000129174	ENST00000355451.7:c.1070G>A	7.37:g.44425626C>T	ENSP00000347626:p.Gly357Glu	NA	Q9BTI3|Q9H7W9|Q9UPT4	37	CCDS5490.2	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917406	0.92249	.	.	ENSG00000015676	ENST00000355451;ENST00000338427	T	0.58358	0.34	5.88	5.88	0.94601	.	0.103771	0.64402	D	0.000004	T	0.68632	0.3022	L	0.59436	1.845	0.58432	D	0.999994	D	0.69078	0.997	P	0.60789	0.879	T	0.69176	-0.5214	10	0.72032	D	0.01	-20.757	19.8237	0.96607	0.0:1.0:0.0:0.0	.	357	Q8IVD9	NUDC3_HUMAN	E	357;113	ENSP00000347626:G357E	ENSP00000345922:G113E	G	-	2	0	NUDCD3	44392151	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.769000	0.68865	2.786000	0.95864	0.655000	0.94253	GGG	NUDCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251248.3		-	ENST00000355451.7	Missense_Mutation	SNP	7 : 44425626 - 44425626 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	362	27
GFER	2671	broad.mit.edu	37	16	2035947	2035947	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2035947G>A	ENST00000248114.6	+	3	542	c.536G>A	c.(535-537)cGc>cAc	p.R179H	AC005606.14_ENST00000564438.1_lincRNA|GFER_ENST00000569451.1_3'UTR|GFER_ENST00000567719.1_Missense_Mutation_p.R104H	NM_005262.2	NP_005253.3	P55789	ALR_HUMAN	growth factor, augmenter of liver regeneration	179	ERV/ALR sulfhydryl oxidase.				cell proliferation|spermatogenesis	extracellular region|mitochondrial intermembrane space	growth factor activity|thiol oxidase activity			endometrium(1)|large_intestine(1)|lung(3)	5						GAAGTGAACCGCAAGCTGGGC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	0,4396		0,0,2198	94	90	91		536	1.1	1	16		91	2,8598	2.2+/-6.3	0,2,4298	no	missense	GFER	NM_005262.2	29	0,2,6496	AA,AG,GG	NA	0.0233,0.0,0.0154	benign	179/206	2035947	2,12994	2198	4300	6498	SO:0001583	missense			BC002429	CCDS32368.1	16p13.3-p13.12	2011-06-22	2008-08-01		ENSG00000127554	ENSG00000127554	2671	2671			4236	protein-coding gene	gene with protein product	ERV1 homolog (S. cerevisiae)	600924	growth factor, erv1 (S. cerevisiae)-like (augmenter of liver regeneration)		NA	8575761	Standard	NM_005262	NM_005262	NA	Approved	HSS, ERV1, ALR, HERV1, HPO1, HPO2	uc002cob.3	P55789		ENST00000248114.6:c.536G>A	16.37:g.2035947G>A	ENSP00000248114:p.Arg179His	NA	Q8TAH6|Q9H290|Q9UK40	37	CCDS32368.1	.	.	.	.	.	.	.	.	.	.	g	14.92	2.680098	0.47886	0.0	2.33E-4	ENSG00000127554	ENST00000248114	T	0.55234	0.53	4.43	1.06	0.20224	Erv1/Alr (3);ERV/ALR sulphydryl oxidase (1);	0.442657	0.21663	N	0.070988	T	0.54775	0.1879	M	0.89601	3.045	0.43304	D	0.995307	B;B	0.17667	0.023;0.01	B;B	0.13407	0.009;0.009	T	0.56038	-0.8045	10	0.66056	D	0.02	-13.2452	6.6271	0.22837	0.1669:0.0:0.6913:0.1418	.	105;179	Q9UQK8;P55789	.;ALR_HUMAN	H	179	ENSP00000248114:R179H	ENSP00000248114:R179H	R	+	2	0	GFER	1975948	0.135000	0.22499	0.986000	0.45419	0.823000	0.46562	0.436000	0.21526	0.420000	0.25954	0.511000	0.50034	CGC	GFER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434243.1		+	ENST00000248114.6	Missense_Mutation	SNP	16 : 2035947 - 2035947 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	719	68
ZNF615	284370	broad.mit.edu	37	19	52497170	52497170	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52497170G>T	ENST00000602063.1	-	6	1508	c.1159C>A	c.(1159-1161)Ctt>Att	p.L387I	ZNF615_ENST00000391795.3_Missense_Mutation_p.L392I|ZNF615_ENST00000376716.5_Missense_Mutation_p.L387I|ZNF615_ENST00000598071.1_Missense_Mutation_p.L398I|ZNF615_ENST00000594083.1_Missense_Mutation_p.L398I			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGTGTGATAAGACTGTTCTTC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	90	92			NA	NA	19		NA											NA				52497170		2203	4300	6503	SO:0001583	missense			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08					284370	284370		Zinc fingers, C2H2-type, -	24740	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_198480	NM_001199324	NA	Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1159C>A	19.37:g.52497170G>T	ENSP00000473089:p.Leu387Ile	NA	B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	37	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004858	0.54254	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.53857	0.6;0.6	3.26	3.26	0.37387	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.75852	0.3906	M	0.88450	2.955	0.29985	N	0.817342	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.74390	-0.3681	9	0.87932	D	0	.	13.7922	0.63148	0.0:0.0:1.0:0.0	.	392;394;398;387	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	I	387;397;392;397	ENSP00000365906:L387I;ENSP00000375672:L392I	ENSP00000347019:L397I	L	-	1	0	ZNF615	57188982	0.285000	0.24296	0.284000	0.24805	0.778000	0.44026	2.867000	0.48428	1.797000	0.52628	0.650000	0.86243	CTT	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462391.1		-	ENST00000602063.1	Missense_Mutation	SNP	19 : 52497170 - 52497170 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	88
ULK4	54986	broad.mit.edu	37	3	41939937	41939937	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41939937T>C	ENST00000420927.1	-	14	1451	c.1335A>G	c.(1333-1335)ctA>ctG	p.L445L	ULK4_ENST00000301831.4_Silent_p.L445L			Q96C45	ULK4_HUMAN	unc-51 like kinase 4	445							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AATATGTTGGTAGATGCAATA	0.284		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	140	138			NA	NA	3		NA											NA				41939937		2186	4291	6477	SO:0001819	synonymous_variant			AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038	54986	54986			15784	protein-coding gene	gene with protein product			unc-51-like kinase 4 (C. elegans)		NA	12477932	Standard	XM_929989	NM_017886	NA	Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000420927.1:c.1335A>G	3.37:g.41939937T>C		NA	A6NF15|Q8IW79|Q9NWV6|Q9UF96	37																																																																																				ULK4-002	NOVEL	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000343491.1		-	ENST00000420927.1	Silent	SNP	3 : 41939937 - 41939937 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	572	122
SPTBN1	6711	broad.mit.edu	37	2	54874327	54874327	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54874327G>T	ENST00000333896.5	+	23	5272	c.4887G>T	c.(4885-4887)gaG>gaT	p.E1629D	SPTBN1_ENST00000356805.4_Missense_Mutation_p.E1642D	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1642	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AAGCTGTGGAGGACTATGCAG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	103	107			NA	NA	2		NA											NA				54874327		2203	4300	6503	SO:0001583	missense				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306	NA	6711		Pleckstrin homology (PH) domain containing	11275	protein-coding gene	gene with protein product		182790			NA		Standard		NM_003128	NA	Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000333896.5:c.4887G>T	2.37:g.54874327G>T	ENSP00000334156:p.Glu1629Asp	NA	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	37	CCDS33199.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664028	0.47572	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.51574	0.7;0.7	5.93	2.74	0.32292	.	0.000000	0.85682	D	0.000000	T	0.33847	0.0877	L	0.43923	1.385	0.37954	D	0.932739	B;B	0.06786	0.0;0.001	B;B	0.10450	0.002;0.005	T	0.21381	-1.0247	10	0.40728	T	0.16	.	4.0883	0.09957	0.3414:0.0:0.4919:0.1666	.	1629;1642	Q01082-3;Q01082	.;SPTB2_HUMAN	D	1642;1629	ENSP00000349259:E1642D;ENSP00000334156:E1629D	ENSP00000334156:E1629D	E	+	3	2	SPTBN1	54727831	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.723000	0.54955	0.850000	0.35239	0.591000	0.81541	GAG	SPTBN1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258117.1		+	ENST00000333896.5	Missense_Mutation	SNP	2 : 54874327 - 54874327 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	604	100
LENG8	114823	broad.mit.edu	37	19	54969152	54969152	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54969152G>A	ENST00000326764.5	+	13	2352	c.1873G>A	c.(1873-1875)Gag>Aag	p.E625K	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	588							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GGAGGTGTACGAGACCCATGC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	71	69			NA	NA	19		NA											NA				54969152		2203	4300	6503	SO:0001583	missense			AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615	114823	114823			15500	protein-coding gene	gene with protein product					NA	10941842	Standard	NM_052925	XM_005278248	NA	Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.1873G>A	19.37:g.54969152G>A	ENSP00000318374:p.Glu625Lys	NA	B0VJY9|Q8IZ27|Q8NCX6	37	CCDS12894.1	.	.	.	.	.	.	.	.	.	.	G	35	5.524366	0.96431	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000376526;ENST00000431846	T;T;T	0.39229	1.09;1.09;1.09	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.60741	0.2292	M	0.89840	3.065	0.80722	D	1	P;P	0.52170	0.951;0.918	P;B	0.48552	0.581;0.432	T	0.71981	-0.4428	10	0.87932	D	0	-27.9672	16.5215	0.84318	0.0:0.0:1.0:0.0	.	625;588	Q96PV6-2;F8W9Q9	.;.	K	625;588;588;625	ENSP00000318374:E625K;ENSP00000365709:E588K;ENSP00000388053:E625K	ENSP00000301196:E588K	E	+	1	0	LENG8	59660964	1.000000	0.71417	0.988000	0.46212	0.829000	0.46940	8.587000	0.90810	2.582000	0.87167	0.561000	0.74099	GAG	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000140523.2		+	ENST00000326764.5	Missense_Mutation	SNP	19 : 54969152 - 54969152 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	391	77
THSD7A	221981	broad.mit.edu	37	7	11457220	11457220	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11457220T>G	ENST00000423059.4	-	17	3645	c.3394A>C	c.(3394-3396)Aat>Cat	p.N1132H	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	NA	TSP type-1 11.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCTGCTGTATTCTGCATGCAT	0.418		NA								HNSCC(18;0.044)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								T	HIS/ASN	0,3760		0,0,1880	98	93	95		3394	5.4	1	7		95	1,8217		0,1,4108	no	missense	THSD7A	NM_015204.2	68	0,1,5988	GG,GT,TT	NA	0.0122,0.0,0.0083	probably-damaging	1132/1658	11457220	1,11977	1880	4109	5989	SO:0001583	missense				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108	221981	221981			22207	protein-coding gene	gene with protein product		612249			NA		Standard	XM_928187.2	NM_015204	NA	Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.3394A>C	7.37:g.11457220T>G	ENSP00000406482:p.Asn1132His	NA		37	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.213011	0.79352	0.0	1.22E-4	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.60672	0.17	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.75968	0.3922	M	0.81239	2.535	0.80722	D	1	D	0.64830	0.994	D	0.70227	0.968	T	0.76955	-0.2767	10	0.39692	T	0.17	.	15.3575	0.74440	0.0:0.0:0.0:1.0	.	1132	Q9UPZ6	THS7A_HUMAN	H	1132	ENSP00000406482:N1132H	ENSP00000262042:N1132H	N	-	1	0	THSD7A	11423745	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.031000	0.88826	2.038000	0.60285	0.533000	0.62120	AAT	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325944.4		-	ENST00000423059.4	Missense_Mutation	SNP	7 : 11457220 - 11457220 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	268	34
ZNF354C	30832	broad.mit.edu	37	5	178506423	178506423	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178506423C>T	ENST00000315475.6	+	5	1296	c.990C>T	c.(988-990)tgC>tgT	p.C330C		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C330C(1)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TCTATAAATGCGGCGAATGTG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)						C		0,4406		0,0,2203	171	181	178		990	0.2	0.2	5		178	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF354C	NM_014594.1		0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077		330/555	178506423	1,13005	2203	4300	6503	SO:0001819	synonymous_variant				CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932	30832	30832		Zinc fingers, C2H2-type, -	16736	protein-coding gene	gene with protein product					NA	10786630	Standard		NM_014594	NA	Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.990C>T	5.37:g.178506423C>T		NA	Q6P4P9|Q8NFX1	37	CCDS4443.1																																																																																			ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253473.2		+	ENST00000315475.6	Silent	SNP	5 : 178506423 - 178506423 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1436	224
TMEM57	55219	broad.mit.edu	37	1	25815742	25815742	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25815742G>A	ENST00000374343.4	+	9	1754	c.1575G>A	c.(1573-1575)aaG>aaA	p.K525K	TMEM57_ENST00000399763.3_Silent_p.K167K|TMEM57_ENST00000399766.3_Silent_p.K298K	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	525						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		TGGACATGAAGGTGAAAGAAG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	107	107			NA	NA	1		NA											NA				25815742		2203	4300	6503	SO:0001819	synonymous_variant			AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178	55219	55219			25572	protein-coding gene	gene with protein product		610301			NA	12459264, 15255972	Standard	NM_018202	XM_005245931	NA	Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.1575G>A	1.37:g.25815742G>A		NA	B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	37	CCDS30638.1																																																																																			TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000009659.2		+	ENST00000374343.4	Silent	SNP	1 : 25815742 - 25815742 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	55
CACHD1	57685	broad.mit.edu	37	1	65137258	65137258	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65137258C>A	ENST00000290039.5	+	17	2352	c.2246C>A	c.(2245-2247)tCt>tAt	p.S749Y	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000371073.2_Missense_Mutation_p.S800Y	NM_020925.2	NP_065976.2	Q5VU97	CAHD1_HUMAN	cache domain containing 1	800					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACACAGCTGTCTTCTGGGCAC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													213	187	196			NA	NA	1		NA											NA				65137258		2203	4300	6503	SO:0001583	missense			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966	57685	57685			29314	protein-coding gene	gene with protein product			von Willebrand factor type A and cache domain containing 1	VWCD1	NA	10997877	Standard	NM_020925	NM_020925	NA	Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000290039.5:c.2246C>A	1.37:g.65137258C>A	ENSP00000290039:p.Ser749Tyr	NA	Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	37	CCDS628.2	.	.	.	.	.	.	.	.	.	.	C	15.15	2.749343	0.49257	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.26957	1.7;1.71	6.08	5.17	0.71159	Cache (1);	0.045645	0.85682	D	0.000000	T	0.19805	0.0476	L	0.53249	1.67	0.58432	D	0.999993	B	0.23990	0.095	B	0.34722	0.188	T	0.06552	-1.0820	10	0.72032	D	0.01	-20.5468	15.3777	0.74625	0.0:0.9336:0.0:0.0664	.	800	Q5VU97	CAHD1_HUMAN	Y	800;749	ENSP00000360113:S800Y;ENSP00000290039:S749Y	ENSP00000290039:S749Y	S	+	2	0	CACHD1	64909846	1.000000	0.71417	1.000000	0.80357	0.228000	0.25075	7.146000	0.77373	1.595000	0.50050	-0.136000	0.14681	TCT	CACHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025238.1		+	ENST00000290039.5	Missense_Mutation	SNP	1 : 65137258 - 65137258 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	800	83
BRCA2	675	broad.mit.edu	37	13	32953972	32953972	+	Silent	SNP	T	T	C	rs80359736		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32953972T>C	ENST00000380152.3	+	23	9272	c.9039T>C	c.(9037-9039)acT>acC	p.T3013T	BRCA2_ENST00000544455.1_Silent_p.T3013T			P51587	BRCA2_HUMAN	breast cancer 2, early onset	3013			T -> I (in BC; unknown pathological significance).		cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATCTTGCAACTTCAAAATCTA	0.328		NA	D, Mis, N, F, S		breast, ovarian, pancreatic	breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		L, E	0													57	57	57			NA	NA	13		NA											NA				32953972		2203	4294	6497	SO:0001819	synonymous_variant	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618	675	675		Fanconi anemia, complementation groups	1101	protein-coding gene	gene with protein product	BRCA1/BRCA2-containing complex, subunit 2	600185	Fanconi anemia, complementation group D1	FANCD1, FACD, FANCD	NA	8091231, 7581463, 15057823	Standard	NM_000059	NM_000059	NA	Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.9039T>C	13.37:g.32953972T>C		NA	O00183|O15008|Q13879|Q5TBJ7	37	CCDS9344.1																																																																																			BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046000.2		+	ENST00000380152.3	Silent	SNP	13 : 32953972 - 32953972 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	43
SYTL1	84958	broad.mit.edu	37	1	27677441	27677441	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27677441C>T	ENST00000318074.5	+	11	1293	c.1126C>T	c.(1126-1128)Cgg>Tgg	p.R376W	SYTL1_ENST00000543823.1_Missense_Mutation_p.R388W|SYTL1_ENST00000490170.1_3'UTR	NM_001193308.1|NM_032872.2	NP_001180237.1|NP_116261.1	Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	388					exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCTGCAGCCCCGGGTGAGGCA	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	31	32			NA	NA	1		NA											NA				27677441		2203	4300	6503	SO:0001583	missense			AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765	84958	84958			15584	protein-coding gene	gene with protein product		608042			NA	12137562	Standard	NM_032872	NM_032872	NA	Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000318074.5:c.1126C>T	1.37:g.27677441C>T	ENSP00000316464:p.Arg376Trp	NA	Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	37	CCDS298.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.881040	0.72294	.	.	ENSG00000142765	ENST00000318074;ENST00000543823;ENST00000485269	T;T	0.08634	3.07;3.07	4.76	4.76	0.60689	C2 calcium/lipid-binding domain, CaLB (2);	0.000000	0.85682	D	0.000000	T	0.26448	0.0646	M	0.76328	2.33	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.00473	-1.1718	10	0.87932	D	0	-31.7094	10.4168	0.44327	0.3059:0.6941:0.0:0.0	.	388;376	Q8IYJ3;Q8IYJ3-2	SYTL1_HUMAN;.	W	376;388;141	ENSP00000316464:R376W;ENSP00000440704:R388W	ENSP00000316464:R376W	R	+	1	2	SYTL1	27550028	0.139000	0.22563	1.000000	0.80357	0.596000	0.36781	0.533000	0.23082	2.487000	0.83934	0.456000	0.33151	CGG	SYTL1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000015783.3		+	ENST00000318074.5	Missense_Mutation	SNP	1 : 27677441 - 27677441 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	269	29
CCR6	1235	broad.mit.edu	37	6	167550300	167550300	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:167550300C>T	ENST00000341935.5	+	3	1134	c.582C>T	c.(580-582)agC>agT	p.S194S	CCR6_ENST00000400926.2_Silent_p.S194S|CCR6_ENST00000349984.4_Silent_p.S194S|RP11-517H2.6_ENST00000609590.1_RNA	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	194					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		CCCAAGGCAGCGATGTCTGTG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	102	106			NA	NA	6		NA											NA				167550300		2203	4300	6503	SO:0001819	synonymous_variant			U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486	1235	1235		GPCR / Class A : Chemokine receptors : C-C motif, CD molecules	1607	protein-coding gene	gene with protein product		601835		STRL22	NA	8886020	Standard		NM_031409	NA	Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.582C>T	6.37:g.167550300C>T		NA	E1P5C6|P78553|Q92846	37	CCDS5298.1																																																																																			CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043118.1		+	ENST00000341935.5	Silent	SNP	6 : 167550300 - 167550300 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	498	102
EPHA6	285220	broad.mit.edu	37	3	96706450	96706450	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:96706450G>A	ENST00000389672.5	+	3	765	c.727G>A	c.(727-729)Gac>Aac	p.D243N	EPHA6_ENST00000470610.2_Missense_Mutation_p.D243N|EPHA6_ENST00000542517.1_Missense_Mutation_p.D149N	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	148						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TACAAAGATCGACACAATTGC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													180	183	182			NA	NA	3		NA											NA				96706450		1878	4137	6015	SO:0001583	missense			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224	285220	285220		EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	19296	protein-coding gene	gene with protein product		600066			NA	12471243	Standard	NM_001080448	NM_001080448	NA	Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.727G>A	3.37:g.96706450G>A	ENSP00000374323:p.Asp243Asn	NA		37	CCDS46876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.2|29.2	4.988862|4.988862	0.93106|0.93106	.|.	.|.	ENSG00000080224|ENSG00000080224	ENST00000470610;ENST00000389672;ENST00000542517|ENST00000506569	T;T;T|.	0.04917|.	3.53;3.53;3.53|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.000000|.	0.64402|.	U|.	0.000001|.	D|D	0.85375|0.85375	0.5682|0.5682	M|M	0.90369|0.90369	3.11|3.11	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	D|D	0.87367|0.87367	0.2348|0.2348	10|5	0.87932|.	D|.	0|.	.|.	18.9232|18.9232	0.92534|0.92534	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	243;243|.	B3KS12;E7EU71|.	.;.|.	N|Q	243;243;149|187	ENSP00000420598:D243N;ENSP00000374323:D243N;ENSP00000439758:D149N|.	ENSP00000374323:D243N|.	D|R	+|+	1|2	0|0	EPHA6|EPHA6	98189140|98189140	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.996000|0.996000	0.88848|0.88848	9.869000|9.869000	0.99810|0.99810	2.703000|2.703000	0.92315|0.92315	0.655000|0.655000	0.94253|0.94253	GAC|CGA	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353845.3		+	ENST00000389672.5	Missense_Mutation	SNP	3 : 96706450 - 96706450 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1267	235
GPRIN2	9721	broad.mit.edu	37	10	46999231	46999231	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46999231G>A	ENST00000374317.1	+	3	624	c.351G>A	c.(349-351)atG>atA	p.M117I	GPRIN2_ENST00000374314.4_Missense_Mutation_p.M117I	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	117										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CTGCTGCTATGCAGAGGAGCC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	30	33			NA	NA	10		NA											NA				46999231		2203	4296	6499	SO:0001583	missense			BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175	9721	9721			23730	protein-coding gene	gene with protein product		611240	KIAA0514	KIAA0514	NA	9628581	Standard	NM_014696	NM_014696	NA	Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.351G>A	10.37:g.46999231G>A	ENSP00000363436:p.Met117Ile	NA	Q5SVF0	37	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496194	0.26861	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03065	4.06;4.06	5.64	2.72	0.32119	.	1.004860	0.08019	N	0.991607	T	0.03739	0.0106	L	0.40543	1.245	0.26608	N	0.972885	B	0.10296	0.003	B	0.04013	0.001	T	0.48937	-0.8990	10	0.18710	T	0.47	-2.2012	5.2223	0.15375	0.1712:0.0:0.6646:0.1642	.	117	O60269	GRIN2_HUMAN	I	117	ENSP00000363436:M117I;ENSP00000363433:M117I	ENSP00000363433:M117I	M	+	3	0	GPRIN2	46419237	0.986000	0.35501	0.797000	0.32132	0.399000	0.30720	0.575000	0.23729	0.395000	0.25257	0.650000	0.86243	ATG	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047836.1		+	ENST00000374317.1	Missense_Mutation	SNP	10 : 46999231 - 46999231 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	224	17
ZNF878	729747	broad.mit.edu	37	19	12154660	12154660	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12154660G>A	ENST00000547628.1	-	4	1693	c.1556C>T	c.(1555-1557)gCc>gTc	p.A519V	CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.A566V|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AAGGATTGAGGCAGATCTAAA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	77	74			NA	NA	19		NA											NA				12154660		2191	4292	6483	SO:0001583	missense				CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446	729747	729747		Zinc fingers, C2H2-type, -	37246	protein-coding gene	gene with protein product					NA		Standard	NM_001080404	NM_001080404	NA	Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.1556C>T	19.37:g.12154660G>A	ENSP00000447931:p.Ala519Val	NA		37	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	A	3.265	-0.150337	0.06585	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.28069	1.63	1.49	-2.97	0.05530	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15912	0.0383	L	0.31420	0.93	0.09310	N	1	P	0.44734	0.842	B	0.36922	0.236	T	0.05007	-1.0912	9	0.40728	T	0.16	.	4.1742	0.10345	0.4878:0.0:0.2714:0.2408	.	519	C9JN71	ZN878_HUMAN	V	519;566	ENSP00000447931:A519V	ENSP00000447931:A519V	A	-	2	0	AC022415.4;ZNF878	12015660	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	0.020000	0.13466	-2.235000	0.00714	-1.925000	0.00514	GCC	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403723.1		-	ENST00000547628.1	Missense_Mutation	SNP	19 : 12154660 - 12154660 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	229	17
TMEM39A	55254	broad.mit.edu	37	3	119156786	119156786	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119156786G>A	ENST00000319172.5	-	6	1160	c.740C>T	c.(739-741)tCg>tTg	p.S247L	TMEM39A_ENST00000486159.1_5'UTR	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	247			S -> L (in a breast cancer sample; somatic mutation).			integral to membrane		p.S247L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		TTCTTTTAGCGACTCCAGCAA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	breast(1)											81	79	80			NA	NA	3		NA											NA				119156786		2203	4300	6503	SO:0001583	missense			BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142	55254	55254			25600	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_018266	NM_018266	NA	Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.740C>T	3.37:g.119156786G>A	ENSP00000326063:p.Ser247Leu	NA	D3DN80|Q53FN4|Q53GI1|Q6PKB5	37	CCDS2987.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967277	0.53507	.	.	ENSG00000176142	ENST00000319172;ENST00000491685	T	0.46819	0.86	5.5	4.61	0.57282	.	0.215456	0.48767	D	0.000173	T	0.30603	0.0770	N	0.22421	0.69	0.47905	D	0.999546	P	0.51653	0.947	B	0.36808	0.233	T	0.04946	-1.0916	10	0.23302	T	0.38	-6.975	15.2941	0.73891	0.0:0.1406:0.8594:0.0	.	247	Q9NV64	TM39A_HUMAN	L	247;93	ENSP00000326063:S247L	ENSP00000326063:S247L	S	-	2	0	TMEM39A	120639476	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	4.825000	0.62708	1.289000	0.44618	0.650000	0.86243	TCG	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354941.3		-	ENST00000319172.5	Missense_Mutation	SNP	3 : 119156786 - 119156786 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	75
DUSP27	92235	broad.mit.edu	37	1	167097360	167097360	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167097360G>A	ENST00000361200.2	+	6	3158	c.2992G>A	c.(2992-2994)Ggc>Agc	p.G998S	DUSP27_ENST00000271385.5_Missense_Mutation_p.G998S|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.G998S			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	998	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CGAGGCAAATGGCAACTCTGT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	79	81			NA	NA	1		NA											NA				167097360		2203	4300	6503	SO:0001583	missense			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842	92235	92235			25034	protein-coding gene	gene with protein product					NA		Standard	NM_001080426	NM_001080426	NA	Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2992G>A	1.37:g.167097360G>A	ENSP00000354483:p.Gly998Ser	NA	A0AUM4|Q9C074	37	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	8.386	0.838723	0.16891	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03358	3.96;3.96;3.96	5.42	4.51	0.55191	.	0.123145	0.37136	N	0.002232	T	0.02012	0.0063	M	0.63428	1.95	0.09310	N	1	B	0.21905	0.062	B	0.20767	0.031	T	0.35251	-0.9796	10	0.51188	T	0.08	-31.6984	10.3833	0.44125	0.1494:0.0:0.8506:0.0	.	998	Q5VZP5	DUS27_HUMAN	S	998	ENSP00000354483:G998S;ENSP00000271385:G998S;ENSP00000404874:G998S	ENSP00000271385:G998S	G	+	1	0	DUSP27	165363984	0.996000	0.38824	0.089000	0.20774	0.416000	0.31233	3.441000	0.52893	1.284000	0.44531	0.643000	0.83706	GGC	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083244.1		+	ENST00000361200.2	Missense_Mutation	SNP	1 : 167097360 - 167097360 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	430	65
KIAA0391	9692	broad.mit.edu	37	14	35735990	35735990	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35735990C>T	ENST00000557565.1	+	6	1714	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W	KIAA0391_ENST00000605870.1_Missense_Mutation_p.R73W|KIAA0391_ENST00000603544.1_Missense_Mutation_p.R429W|KIAA0391_ENST00000604948.1_Missense_Mutation_p.R350W|KIAA0391_ENST00000250377.7_Missense_Mutation_p.R350W|KIAA0391_ENST00000534898.4_Missense_Mutation_p.R445W|KIAA0391_ENST00000321130.10_Missense_Mutation_p.R429W	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	445					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		GGTCCTAGGCCGGAAGCACAT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													215	207	210			NA	NA	14		NA											NA				35735990		2203	4300	6503	SO:0001583	missense			AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890	9692	9692			19958	protein-coding gene	gene with protein product	mitochondrial RNase P subunit 3, proteinaceous RNase P	609947			NA	9205841, 18984158	Standard	NM_014672	NM_001256678	NA	Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.1333C>T	14.37:g.35735990C>T	ENSP00000454657:p.Arg445Trp	NA	B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	37	CCDS32063.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972826	0.74246	.	.	ENSG00000100890	ENST00000554896;ENST00000250377;ENST00000321130;ENST00000534898;ENST00000556121;ENST00000556912;ENST00000557404	T;T;T;T	0.55588	0.58;0.51;0.52;0.83	5.62	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.75613	0.3873	M	0.88181	2.935	0.51012	D	0.999901	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80529	-0.1342	10	0.87932	D	0	-8.7734	12.7785	0.57464	0.2972:0.7028:0.0:0.0	.	429;445	O15091-2;O15091	.;MRRP3_HUMAN	W	350;350;429;445;429;73;73	ENSP00000250377:R350W;ENSP00000324697:R429W;ENSP00000440915:R445W;ENSP00000450898:R73W	ENSP00000250377:R350W	R	+	1	2	KIAA0391	34805741	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	3.588000	0.53964	1.369000	0.46134	0.650000	0.86243	CGG	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000411280.1		+	ENST00000557565.1	Missense_Mutation	SNP	14 : 35735990 - 35735990 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	757	149
UMODL1	89766	broad.mit.edu	37	21	43547924	43547924	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43547924G>A	ENST00000400424.2	+	20	3853	c.3457G>A	c.(3457-3459)Gga>Aga	p.G1153R	UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000408910.2_Missense_Mutation_p.G1225R|UMODL1_ENST00000400427.1_Missense_Mutation_p.G1281R|UMODL1_ENST00000408989.2_Missense_Mutation_p.G1353R	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN	uromodulin-like 1	NA	ZP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGAATCCCCCGGAGCCACGTG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)							NA				0													104	101	102			NA	NA	21		NA											NA				43547924		1967	4151	6118	SO:0001583	missense				CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398	89766	89766			12560	protein-coding gene	gene with protein product	olfactorin	613859			NA	16026467	Standard		NM_173568	NA	Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000400424.2:c.3457G>A	21.37:g.43547924G>A	ENSP00000383276:p.Gly1153Arg	NA	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	37	CCDS56214.1	.	.	.	.	.	.	.	.	.	.	G	7.905	0.735203	0.15574	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910;ENST00000434156	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	3.56	2.65	0.31530	Zona pellucida sperm-binding protein (3);	0.363130	0.19826	N	0.105183	T	0.74015	0.3661	L	0.34521	1.04	0.09310	N	1	P;P	0.50443	0.56;0.935	B;B	0.44163	0.112;0.443	T	0.64368	-0.6424	9	.	.	.	-3.8301	9.2905	0.37784	0.1065:0.0:0.8935:0.0	.	1353;1225	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	R	1281;1153;1353;1225;110	ENSP00000383279:G1281R;ENSP00000383276:G1153R;ENSP00000386126:G1353R;ENSP00000386147:G1225R	.	G	+	1	0	UMODL1	42420993	0.672000	0.27530	0.002000	0.10522	0.130000	0.20726	2.925000	0.48884	1.048000	0.40298	0.561000	0.74099	GGA	UMODL1-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195294.2		+	ENST00000400424.2	Missense_Mutation	SNP	21 : 43547924 - 43547924 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	416	22
PGD	5226	broad.mit.edu	37	1	10473299	10473299	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10473299A>G	ENST00000270776.8	+	8	873	c.835A>G	c.(835-837)Acc>Gcc	p.T279A	PGD_ENST00000541529.1_Missense_Mutation_p.T257A|PGD_ENST00000538557.1_Missense_Mutation_p.T266A	NM_002631.2	NP_002622.2	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	279					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		CGTACCCGTCACCCTCATTGG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	67	73			NA	NA	1		NA											NA				10473299		2203	4300	6503	SO:0001583	missense			BC000368	CCDS113.1	1p36.22	2012-10-02			ENSG00000142657	ENSG00000142657	5226	5226	1.1.1.43		8891	protein-coding gene	gene with protein product		172200			NA		Standard	NM_002631	NM_002631	NA	Approved		uc001arc.3	P52209	OTTHUMG00000001905	ENST00000270776.8:c.835A>G	1.37:g.10473299A>G	ENSP00000270776:p.Thr279Ala	NA	Q9BWD8	37	CCDS113.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.724706	0.89298	.	.	ENSG00000142657	ENST00000541529;ENST00000543846;ENST00000270776;ENST00000538557	T;T;T	0.45668	0.89;0.89;0.89	5.06	5.06	0.68205	6-phosphogluconate dehydrogenase, C-terminal (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.71467	0.3343	M	0.91090	3.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.79424	-0.1809	10	0.87932	D	0	-26.9004	15.1463	0.72653	1.0:0.0:0.0:0.0	.	257;279;279	F5H7U0;A8K2Y9;P52209	.;.;6PGD_HUMAN	A	257;225;279;266	ENSP00000442285:T257A;ENSP00000270776:T279A;ENSP00000437822:T266A	ENSP00000270776:T279A	T	+	1	0	PGD	10395886	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	9.224000	0.95209	2.043000	0.60533	0.519000	0.50382	ACC	PGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005398.1		+	ENST00000270776.8	Missense_Mutation	SNP	1 : 10473299 - 10473299 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	276	34
CLTC	1213	broad.mit.edu	37	17	57741290	57741290	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57741290A>G	ENST00000269122.3	+	9	1730	c.1456A>G	c.(1456-1458)Aat>Gat	p.N486D	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.N486D	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	486	Flexible linker.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TAACGTCCCAAATAAAGTCAT	0.398		NA	T	ALK, TFE3	ALCL, renal 									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		17	17q11-qter	1213	clathrin, heavy polypeptide (Hc)		L	0													138	131	133			NA	NA	17		NA											NA				57741290		2203	4300	6503	SO:0001583	missense			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367	1213	1213			2092	protein-coding gene	gene with protein product		118955	clathrin, heavy polypeptide (Hc), clathrin, heavy chain, clathrin, heavy polypeptide-like 2	CLTCL2	NA	1765375, 7584026	Standard	NM_004859	NM_004859	NA	Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.1456A>G	17.37:g.57741290A>G	ENSP00000269122:p.Asn486Asp	NA	D3DU00|Q6N0A0|Q86TF2	37	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	A	16.10	3.025966	0.54683	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.21191	2.02;2.02	5.38	5.38	0.77491	Armadillo-type fold (2);	0.043136	0.85682	D	0.000000	T	0.18383	0.0441	L	0.41027	1.25	0.80722	D	1	B;B	0.20550	0.046;0.0	B;B	0.20384	0.029;0.006	T	0.05616	-1.0874	10	0.11794	T	0.64	.	15.6795	0.77357	1.0:0.0:0.0:0.0	.	486;486	Q00610;Q00610-2	CLH1_HUMAN;.	D	486	ENSP00000269122:N486D;ENSP00000376763:N486D	ENSP00000269122:N486D	N	+	1	0	CLTC	55096072	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.287000	0.95975	2.161000	0.67846	0.460000	0.39030	AAT	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258859.1		+	ENST00000269122.3	Missense_Mutation	SNP	17 : 57741290 - 57741290 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	464	92
ZC3H7A	29066	broad.mit.edu	37	16	11873039	11873039	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11873039C>T	ENST00000396516.2	-	3	486	c.289G>A	c.(289-291)Gcc>Acc	p.A97T	ZC3H7A_ENST00000575170.1_5'UTR|ZC3H7A_ENST00000355758.4_Missense_Mutation_p.A97T			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	97						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						GAATAGCAGGCAATACGATTT	0.274		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	77	74			NA	NA	16		NA											NA				11873039		2195	4299	6494	SO:0001583	missense			AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299	29066	29066		Zinc fingers, CCCH-type domain containing, Tetratricopeptide (TTC) repeat domain containing	30959	protein-coding gene	gene with protein product			zinc finger CCCH-type domain containing 7, zinc finger CCCH-type containing 7	ZC3HDC7, ZC3H7	NA	11042152	Standard	NM_014153	NM_014153	NA	Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.289G>A	16.37:g.11873039C>T	ENSP00000379773:p.Ala97Thr	NA	D3DUG5|Q9NPE9	37	CCDS10550.1	.	.	.	.	.	.	.	.	.	.	C	32	5.162631	0.94727	.	.	ENSG00000122299	ENST00000355758;ENST00000396516	T;T	0.61274	0.12;0.12	5.7	5.7	0.88788	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.81545	0.4845	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84670	0.0711	10	0.72032	D	0.01	.	18.8171	0.92081	0.0:1.0:0.0:0.0	.	97	Q8IWR0	Z3H7A_HUMAN	T	97	ENSP00000347999:A97T;ENSP00000379773:A97T	ENSP00000347999:A97T	A	-	1	0	ZC3H7A	11780540	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.423000	0.80229	2.692000	0.91855	0.467000	0.42956	GCC	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437066.1		-	ENST00000396516.2	Missense_Mutation	SNP	16 : 11873039 - 11873039 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	523	45
APLP1	333	broad.mit.edu	37	19	36362206	36362206	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36362206G>T	ENST00000221891.4	+	4	684	c.492G>T	c.(490-492)atG>atT	p.M164I	APLP1_ENST00000586861.1_Missense_Mutation_p.M158I|APLP1_ENST00000537454.2_Missense_Mutation_p.M125I	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	164	Copper-binding (By similarity).				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGGAGCGCATGGACCAATGTG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	70	75			NA	NA	19		NA											NA				36362206		2203	4299	6502	SO:0001583	missense			U48437	CCDS32997.1	19q	2008-07-15					333	333			597	protein-coding gene	gene with protein product	amyloid-like protein 1, amyloid precursor-like protein 1	104775			NA	8432545	Standard	NM_001024807	NM_001024807	NA	Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.492G>T	19.37:g.36362206G>T	ENSP00000221891:p.Met164Ile	NA	O00113|Q96A92	37	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	g	27.8	4.867486	0.91587	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	D;D	0.94497	-3.34;-3.44	4.86	4.86	0.63082	Amyloidogenic glycoprotein, extracellular (1);Amyloidogenic glycoprotein, copper-binding (3);	0.000000	0.56097	D	0.000027	D	0.96664	0.8911	M	0.72894	2.215	0.54753	D	0.999987	P;P;D;D	0.58620	0.917;0.901;0.979;0.983	P;B;D;D	0.72338	0.857;0.398;0.961;0.977	D	0.96868	0.9637	10	0.56958	D	0.05	-12.826	15.4941	0.75634	0.0:0.0:1.0:0.0	.	158;125;164;164	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	I	125;164	ENSP00000441501:M125I;ENSP00000221891:M164I	ENSP00000221891:M164I	M	+	3	0	APLP1	41054046	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	5.620000	0.67736	2.257000	0.74773	0.479000	0.44913	ATG	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452564.1		+	ENST00000221891.4	Missense_Mutation	SNP	19 : 36362206 - 36362206 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	120	20
LIFR	3977	broad.mit.edu	37	5	38530694	38530694	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38530694C>T	ENST00000263409.4	-	2	218	c.56G>A	c.(55-57)aGa>aAa	p.R19K	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.R19K	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	19					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AGTCCTCATTCTTTTATTGTC	0.388		NA	T	PLAG1	salivary adenoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(13;4 730 6426 9861 34751)		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0													135	131	133			NA	NA	5		NA											NA				38530694		2203	4300	6503	SO:0001583	missense			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594	3977	3977		CD molecules, Fibronectin type III domain containing	6597	protein-coding gene	gene with protein product		151443	leukemia inhibitory factor receptor		NA	1915266	Standard	NM_002310	NM_001127671	NA	Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.56G>A	5.37:g.38530694C>T	ENSP00000263409:p.Arg19Lys	NA	Q6LCD9	37	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.283089	0.59867	.	.	ENSG00000113594	ENST00000263409;ENST00000453190;ENST00000506990;ENST00000511561	T;T;T	0.55588	0.51;0.51;0.81	5.5	1.59	0.23543	.	0.827850	0.10502	N	0.667197	T	0.43366	0.1244	L	0.59436	1.845	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45011	-0.9290	10	0.59425	D	0.04	-12.1776	1.854	0.03174	0.1684:0.4932:0.1629:0.1755	.	19	P42702	LIFR_HUMAN	K	19	ENSP00000263409:R19K;ENSP00000398368:R19K;ENSP00000426685:R19K	ENSP00000263409:R19K	R	-	2	0	LIFR	38566451	0.004000	0.15560	0.001000	0.08648	0.900000	0.52787	0.721000	0.25911	0.337000	0.23665	0.650000	0.86243	AGA	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253823.1		-	ENST00000263409.4	Missense_Mutation	SNP	5 : 38530694 - 38530694 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	506	38
TMCO1	54499	broad.mit.edu	37	1	165737482	165737482	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:165737482C>A	ENST00000580248.1	-	0	545				TMCO1_ENST00000464650.1_De_novo_Start_InFrame|TMCO1_ENST00000367881.5_Missense_Mutation_p.R83M|TMCO1_ENST00000392129.6_Missense_Mutation_p.R32M			Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1	NA						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CTTGTCTGTCCTGTAAACCAG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	143	149			NA	NA	1		NA											NA				165737482		2203	4300	6503					AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183	54499	54499			18188	protein-coding gene	gene with protein product		614123	transmembrane and coiled-coil domains 4	TMCC4	NA	8619474, 9110174	Standard	NM_019026	NM_019026	NA	Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000580248.1:	1.37:g.165737482C>A		NA	B2REA0|O75545|Q9BZS3|Q9BZU8	37		.	.	.	.	.	.	.	.	.	.	C	29.4	4.998946	0.93227	.	.	ENSG00000143183	ENST00000367881;ENST00000392129	.	.	.	5.68	5.68	0.88126	.	0.045571	0.85682	D	0.000000	D	0.84479	0.5481	M	0.92507	3.315	0.53688	D	0.999976	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	D	0.87671	0.2541	8	0.87932	D	0	.	17.2927	0.87162	0.0:1.0:0.0:0.0	.	20;32	B7Z591;Q9UM00	.;TMCO1_HUMAN	M	32	.	ENSP00000356856:R32M	R	-	2	0	TMCO1	164004106	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.314000	0.72848	2.683000	0.91414	0.561000	0.74099	AGG	TMCO1-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000444422.1		-	ENST00000580248.1	De_novo_Start_InFrame	SNP	1 : 165737482 - 165737482 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	389	26
FAM208B	54906	broad.mit.edu	37	10	5777300	5777300	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5777300A>G	ENST00000328090.5	+	12	1863	c.1238A>G	c.(1237-1239)aAa>aGa	p.K413R	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	413											NA						TTTGTACAGAAAACCAAATTG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	146	147			NA	NA	10		NA											NA				5777300		1829	4087	5916	SO:0001583	missense			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021	54906	54906			23484	protein-coding gene	gene with protein product			chromosome 10 open reading frame 18	C10orf18	NA	12477932	Standard	NM_017782	NM_017782	NA	Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.1238A>G	10.37:g.5777300A>G	ENSP00000328426:p.Lys413Arg	NA	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	37	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	A	15.09	2.729368	0.48833	.	.	ENSG00000108021	ENST00000328090	D	0.98437	-4.93	5.78	1.49	0.22878	.	0.284575	0.30593	N	0.009292	D	0.93825	0.8025	L	0.38175	1.15	0.26514	N	0.974557	P	0.42827	0.791	B	0.35240	0.198	D	0.88702	0.3216	10	0.39692	T	0.17	.	5.9868	0.19438	0.2203:0.5794:0.0:0.2003	.	413	Q5VWN6	F208B_HUMAN	R	413	ENSP00000328426:K413R	ENSP00000328426:K413R	K	+	2	0	C10orf18	5817306	0.983000	0.35010	0.986000	0.45419	0.992000	0.81027	0.510000	0.22723	-0.007000	0.14345	0.533000	0.62120	AAA	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046571.2		+	ENST00000328090.5	Missense_Mutation	SNP	10 : 5777300 - 5777300 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1055	194
MYO9B	4650	broad.mit.edu	37	19	17212778	17212778	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17212778C>A	ENST00000595618.1	+	2	403	c.251C>A	c.(250-252)cCt>cAt	p.P84H	MYO9B_ENST00000594824.1_Missense_Mutation_p.P84H|MYO9B_ENST00000397274.2_Missense_Mutation_p.P84H	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	84	Myosin head-like.|Ras-associating.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AACGACTCGCCTGTGCACCGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	47	45			NA	NA	19		NA											NA				17212778		2056	4185	6241	SO:0001583	missense				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331	4650	4650		Myosins / Myosin superfamily : Class IX	7609	protein-coding gene	gene with protein product		602129		CELIAC4	NA	9226381	Standard		NM_004145	NA	Approved		uc010eak.3	Q13459		ENST00000595618.1:c.251C>A	19.37:g.17212778C>A	ENSP00000471457:p.Pro84His	NA	O75314|Q9NUJ2|Q9UHN0	37	CCDS46010.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820121	0.71028	.	.	ENSG00000099331	ENST00000397274	T	0.60672	0.17	4.93	4.93	0.64822	Ras-association (3);	0.000000	0.47852	D	0.000208	T	0.76198	0.3954	M	0.75615	2.305	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.79249	-0.1881	10	0.62326	D	0.03	.	17.1436	0.86760	0.0:1.0:0.0:0.0	.	84;84;90	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	H	84	ENSP00000380444:P84H	ENSP00000380444:P84H	P	+	2	0	MYO9B	17073778	1.000000	0.71417	0.082000	0.20525	0.720000	0.41350	7.517000	0.81783	2.264000	0.75181	0.655000	0.94253	CCT	MYO9B-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463235.1		+	ENST00000595618.1	Missense_Mutation	SNP	19 : 17212778 - 17212778 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	168	8
TRIM2	23321	broad.mit.edu	37	4	154216729	154216729	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154216729G>A	ENST00000338700.5	+	6	1116	c.1051G>A	c.(1051-1053)Gtt>Att	p.V351I	TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000437508.2_Missense_Mutation_p.V324I	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	324						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CACCAACGCCGTTGCCTCAGA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	52	54			NA	NA	4		NA											NA				154216729		2203	4300	6503	SO:0001583	missense			AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654	23321	23321		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	15974	protein-coding gene	gene with protein product		614141	tripartite motif-containing 2		NA	9628581, 11331580	Standard		NM_015271	NA	Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000338700.5:c.1051G>A	4.37:g.154216729G>A	ENSP00000339659:p.Val351Ile	NA	O60272|Q9BSI9|Q9UFZ1	37	CCDS3781.2	.	.	.	.	.	.	.	.	.	.	G	12.05	1.821247	0.32237	.	.	ENSG00000109654	ENST00000437508;ENST00000338700	D;D	0.84944	-1.92;-1.92	5.53	4.68	0.58851	.	0.101717	0.64402	D	0.000002	T	0.78349	0.4269	L	0.46885	1.475	0.53688	D	0.999973	P;P	0.42973	0.796;0.646	B;B	0.32090	0.14;0.071	T	0.77800	-0.2452	10	0.33141	T	0.24	-1.7556	15.9934	0.80223	0.0:0.0:0.8641:0.1359	.	351;324	D3DP09;Q9C040	.;TRIM2_HUMAN	I	324;351	ENSP00000415812:V324I;ENSP00000339659:V351I	ENSP00000339659:V351I	V	+	1	0	TRIM2	154436179	1.000000	0.71417	0.860000	0.33809	0.842000	0.47809	7.505000	0.81655	1.443000	0.47586	0.561000	0.74099	GTT	TRIM2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342649.3		+	ENST00000338700.5	Missense_Mutation	SNP	4 : 154216729 - 154216729 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	62
WRNIP1	56897	broad.mit.edu	37	6	2770555	2770555	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:2770555C>A	ENST00000380769.4	+	3	787	c.556C>A	c.(556-558)Ccc>Acc	p.P186T	WRNIP1_ENST00000380764.1_Missense_Mutation_p.P22T|WRNIP1_ENST00000380771.4_Missense_Mutation_p.P381T|WRNIP1_ENST00000380773.4_Missense_Mutation_p.P406T			Q96S55	WRIP1_HUMAN	Werner helicase interacting protein 1	406					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				CTCTAGCCGTCCCACTGACCC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	72	74			NA	NA	6		NA											NA				2770555		2203	4300	6503	SO:0001583	missense			AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535	56897	56897		ATPases / AAA-type	20876	protein-coding gene	gene with protein product		608196			NA	11301316	Standard	NM_130395	NM_020135	NA	Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380769.4:c.556C>A	6.37:g.2770555C>A	ENSP00000370146:p.Pro186Thr	NA	B2RDB0|Q53EP6|Q59ET8|Q5W0E2|Q5W0E4|Q8WV26|Q9H681|Q9NRJ6	37		.	.	.	.	.	.	.	.	.	.	C	14.32	2.501245	0.44455	.	.	ENSG00000124535	ENST00000380773;ENST00000380771;ENST00000380769;ENST00000380764	T;T;T	0.43688	0.94;1.0;1.01	5.79	4.93	0.64822	.	0.437998	0.24657	N	0.036668	T	0.12433	0.0302	N	0.25647	0.755	0.30469	N	0.773538	B;B	0.15473	0.013;0.006	B;B	0.11329	0.006;0.006	T	0.13818	-1.0495	10	0.14252	T	0.57	-17.2905	12.2648	0.54672	0.0:0.9222:0.0:0.0778	.	381;406	Q96S55-2;Q96S55	.;WRIP1_HUMAN	T	406;381;186;22	ENSP00000370150:P406T;ENSP00000370148:P381T;ENSP00000370146:P186T	ENSP00000370141:P22T	P	+	1	0	WRNIP1	2715554	0.733000	0.28132	0.934000	0.37439	0.998000	0.95712	2.859000	0.48364	1.447000	0.47661	0.650000	0.86243	CCC	WRNIP1-003	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000039643.2		+	ENST00000380769.4	Missense_Mutation	SNP	6 : 2770555 - 2770555 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	351	30
KRT83	3889	broad.mit.edu	37	12	52710773	52710773	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52710773G>T	ENST00000293670.3	-	5	847	c.785C>A	c.(784-786)aCc>aAc	p.T262N		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	262	Linker 12.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AACCACGGAGGTGTCTGAGAT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)							NA				0													148	129	135			NA	NA	12		NA											NA				52710773		2203	4300	6503	SO:0001583	missense			X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523	3889	3889		-, Intermediate filaments type II, keratins (basic)	6460	protein-coding gene	gene with protein product	hard keratin type II	602765	keratin, hair, basic, 3	KRTHB3	NA	9084137, 16831889	Standard	NM_002282	NM_002282	NA	Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.785C>A	12.37:g.52710773G>T	ENSP00000293670:p.Thr262Asn	NA	A1A4S9|B2RC21|Q6NT21|Q9NSB3	37	CCDS8823.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.886649	0.72410	.	.	ENSG00000170523	ENST00000293670	T	0.77229	-1.08	3.9	3.0	0.34707	Filament (1);	0.164011	0.28332	U	0.015740	D	0.89646	0.6775	H	0.95504	3.68	0.39581	D	0.969431	P	0.49559	0.925	P	0.61658	0.892	D	0.91465	0.5192	10	0.87932	D	0	.	11.594	0.50962	0.0897:0.0:0.9103:0.0	.	262	P78385	KRT83_HUMAN	N	262	ENSP00000293670:T262N	ENSP00000293670:T262N	T	-	2	0	KRT83	50997040	1.000000	0.71417	0.996000	0.52242	0.911000	0.54048	5.582000	0.67477	0.763000	0.33175	0.561000	0.74099	ACC	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405182.1		-	ENST00000293670.3	Missense_Mutation	SNP	12 : 52710773 - 52710773 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	469	100
PPRC1	23082	broad.mit.edu	37	10	103901019	103901019	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103901019C>T	ENST00000278070.2	+	5	2793	c.2754C>T	c.(2752-2754)gcC>gcT	p.A918A	PPRC1_ENST00000413464.2_Silent_p.A918A	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	918	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CTCACTATGCCCCCTTGCCAT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													188	125	146			NA	NA	10		NA											NA				103901019		2203	4300	6503	SO:0001819	synonymous_variant			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840	23082	23082		RNA binding motif (RRM) containing	30025	protein-coding gene	gene with protein product			peroxisome proliferative activated receptor, gamma, coactivator-related 1		NA	9628581, 11340167	Standard	NM_015062	XM_005269656	NA	Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.2754C>T	10.37:g.103901019C>T		NA	Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	37	CCDS7529.1																																																																																			PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050021.1		+	ENST00000278070.2	Silent	SNP	10 : 103901019 - 103901019 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	407	79
KIF26B	55083	broad.mit.edu	37	1	245530451	245530451	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245530451G>A	ENST00000407071.2	+	3	1221	c.781G>A	c.(781-783)Gcc>Acc	p.A261T	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	261					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CACAGGCTTCGCCAACAAGCA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849	55083	55083		Kinesins	25484	protein-coding gene	gene with protein product		614026			NA		Standard	XM_371354	NM_018012	NA	Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.781G>A	1.37:g.245530451G>A	ENSP00000385545:p.Ala261Thr	NA	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	37	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647193	0.29246	.	.	ENSG00000162849	ENST00000407071	T	0.77229	-1.08	5.57	2.53	0.30540	.	0.464285	0.18794	N	0.131000	T	0.63651	0.2529	L	0.34521	1.04	0.09310	N	0.999999	B;B	0.25105	0.118;0.103	B;B	0.14578	0.011;0.01	T	0.54009	-0.8357	10	0.37606	T	0.19	.	9.0255	0.36227	0.1336:0.2209:0.6455:0.0	.	261;261	B4DF75;Q2KJY2	.;KI26B_HUMAN	T	261	ENSP00000385545:A261T	ENSP00000385545:A261T	A	+	1	0	KIF26B	243597074	0.000000	0.05858	0.722000	0.30670	0.790000	0.44656	-0.060000	0.11712	1.353000	0.45828	0.655000	0.94253	GCC	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381037.1		+	ENST00000407071.2	Missense_Mutation	SNP	1 : 245530451 - 245530451 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	72	6
ZNF782	158431	broad.mit.edu	37	9	99580223	99580223	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99580223T>G	ENST00000481138.1	-	6	2743	c.2082A>C	c.(2080-2082)aaA>aaC	p.K694N	ZNF782_ENST00000535338.1_Missense_Mutation_p.K562N	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	694					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				CTGGGTGGGCTTTCTGATGTT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	78	77			NA	NA	9		NA											NA				99580223		2203	4300	6503	SO:0001583	missense			AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597	158431	158431		Zinc fingers, C2H2-type, -	33110	protein-coding gene	gene with protein product					NA		Standard	NM_001001662	NM_001001662	NA	Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.2082A>C	9.37:g.99580223T>G	ENSP00000419397:p.Lys694Asn	NA	B2RNR0	37	CCDS35075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	14.27|14.27	2.484678|2.484678	0.44147|0.44147	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000481138;ENST00000535338|ENST00000289032	T;T|.	0.16457|.	2.34;2.34|.	2.87|2.87	-0.0922|-0.0922	0.13658|0.13658	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.42086|0.42086	0.1187|0.1187	M|M	0.63169|0.63169	1.94|1.94	0.20403|0.20403	N|N	0.999904|0.999904	D|.	0.89917|.	1.0|.	D|.	0.72982|.	0.979|.	T|T	0.36383|0.36383	-0.9750|-0.9750	9|5	0.87932|.	D|.	0|.	.|.	6.0568|6.0568	0.19816|0.19816	0.0:0.3139:0.0:0.6861|0.0:0.3139:0.0:0.6861	.|.	694|.	Q6ZMW2|.	ZN782_HUMAN|.	N|R	694;562|683	ENSP00000419397:K694N;ENSP00000440624:K562N|.	ENSP00000419397:K694N|.	K|S	-|-	3|1	2|0	ZNF782|ZNF782	98620044|98620044	0.000000|0.000000	0.05858|0.05858	0.464000|0.464000	0.27143|0.27143	0.890000|0.890000	0.51754|0.51754	-0.677000|-0.677000	0.05215|0.05215	-0.037000|-0.037000	0.13646|0.13646	0.533000|0.533000	0.62120|0.62120	AAA|AGC	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356810.1		-	ENST00000481138.1	Missense_Mutation	SNP	9 : 99580223 - 99580223 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	505	114
CCDC106	29903	broad.mit.edu	37	19	56160870	56160870	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56160870G>A	ENST00000586790.1	+	3	1137	c.233G>A	c.(232-234)cGc>cAc	p.R78H	CCDC106_ENST00000591578.1_Missense_Mutation_p.R78H|CCDC106_ENST00000588740.1_Missense_Mutation_p.R78H|CCDC106_ENST00000591241.1_Missense_Mutation_p.R43H|CCDC106_ENST00000308964.3_Missense_Mutation_p.R78H			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	78						nucleus				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CTGCAGAAGCGCATCGAGGAC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	65	68			NA	NA	19		NA											NA				56160870		2203	4300	6503	SO:0001583	missense			AF054984	CCDS33118.1	19q13.42	2013-09-20			ENSG00000173581	ENSG00000173581	29903	29903			30181	protein-coding gene	gene with protein product		613478			NA	8619474, 9110174	Standard	NM_013301	XM_005258827	NA	Approved	HSU79303	uc002qlr.3	Q9BWC9	OTTHUMG00000180907	ENST00000586790.1:c.233G>A	19.37:g.56160870G>A	ENSP00000465757:p.Arg78His	NA	B3KUF9|D3K183|Q99786	37	CCDS33118.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717725	0.89205	.	.	ENSG00000173581	ENST00000308964	.	.	.	3.37	3.37	0.38596	.	0.000000	0.85682	D	0.000000	T	0.68238	0.2979	L	0.48642	1.525	0.54753	D	0.999986	D	0.76494	0.999	D	0.78314	0.991	T	0.72147	-0.4378	9	0.66056	D	0.02	-7.3931	14.0108	0.64495	0.0:0.0:1.0:0.0	.	78	Q9BWC9	CC106_HUMAN	H	78	.	ENSP00000309681:R78H	R	+	2	0	CCDC106	60852682	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.256000	0.72473	1.910000	0.55303	0.462000	0.41574	CGC	CCDC106-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453593.1		+	ENST00000586790.1	Missense_Mutation	SNP	19 : 56160870 - 56160870 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	45
NETO1	81832	broad.mit.edu	37	18	70417299	70417299	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:70417299C>A	ENST00000327305.6	-	9	2196	c.1539G>T	c.(1537-1539)caG>caT	p.Q513H	NETO1_ENST00000583169.1_Missense_Mutation_p.Q513H|NETO1_ENST00000299430.2_Missense_Mutation_p.Q512H	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	513					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ATACTGACCGCTGGACGGCTT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	70	73			NA	NA	18		NA											NA				70417299		2203	4300	6503	SO:0001583	missense			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342	81832	81832			13823	protein-coding gene	gene with protein product		607973			NA	11943477, 12810072	Standard	NM_138999	NM_138999	NA	Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.1539G>T	18.37:g.70417299C>A	ENSP00000313088:p.Gln513His	NA	Q86W85|Q8ND78|Q8TDF4	37	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436457	0.83885	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.24723	1.84;1.85	5.76	5.76	0.90799	.	0.000000	0.56097	D	0.000023	T	0.45236	0.1332	L	0.41236	1.265	0.80722	D	1	D;D	0.64830	0.994;0.99	D;D	0.78314	0.991;0.979	T	0.11966	-1.0566	10	0.44086	T	0.13	-8.9025	19.973	0.97292	0.0:1.0:0.0:0.0	.	512;513	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	H	513;512	ENSP00000313088:Q513H;ENSP00000299430:Q512H	ENSP00000299430:Q512H	Q	-	3	2	NETO1	68568279	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.452000	0.80683	2.725000	0.93324	0.460000	0.39030	CAG	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256301.2		-	ENST00000327305.6	Missense_Mutation	SNP	18 : 70417299 - 70417299 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	338	64
FNDC9	408263	broad.mit.edu	37	5	156770491	156770491	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156770491C>T	ENST00000312349.4	-	2	241	c.54G>A	c.(52-54)tcG>tcA	p.S18S	CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000521420.1_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	18	Fibronectin type-III.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GCTCCGAGGACGACCAGGAGA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	67	67			NA	NA	5		NA											NA				156770491		2203	4300	6503	SO:0001819	synonymous_variant			BC022570	CCDS4337.1	5q33.3	2013-02-11	2011-01-25	2011-01-25	ENSG00000172568	ENSG00000172568	408263	408263		Fibronectin type III domain containing	33547	protein-coding gene	gene with protein product			chromosome 5 open reading frame 40	C5orf40	NA		Standard	NM_001001343	NM_001001343	NA	Approved	MGC27121	uc003lwu.2	Q8TBE3	OTTHUMG00000130248	ENST00000312349.4:c.54G>A	5.37:g.156770491C>T		NA	A8K0Y6	37	CCDS4337.1																																																																																			FNDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252573.2		-	ENST00000312349.4	Silent	SNP	5 : 156770491 - 156770491 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	267	48
SMPD3	55512	broad.mit.edu	37	16	68405851	68405851	+	Silent	SNP	C	C	T	rs147838351		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68405851C>T	ENST00000219334.5	-	3	837	c.234G>A	c.(232-234)gcG>gcA	p.A78A	SMPD3_ENST00000568373.1_Silent_p.A78A|SMPD3_ENST00000563226.1_Silent_p.A78A	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	78					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	AGCCGAGAAACGCAAAGGGCA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4391		0,1,2195	22	22	22		234	-10.6	0	16	dbSNP_134	22	0,8596		0,0,4298	no	coding-synonymous	SMPD3	NM_018667.3		0,1,6493	TT,TC,CC	NA	0.0,0.0228,0.0077		78/656	68405851	1,12987	2196	4298	6494	SO:0001819	synonymous_variant			AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056	55512	55512			14240	protein-coding gene	gene with protein product		605777			NA	10823942	Standard	NM_018667	NM_018667	NA	Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.234G>A	16.37:g.68405851C>T		NA	Q2M1S8	37	CCDS10867.1																																																																																			SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268895.3		-	ENST00000219334.5	Silent	SNP	16 : 68405851 - 68405851 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	140	21
CD101	9398	broad.mit.edu	37	1	117556224	117556224	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117556224T>C	ENST00000256652.4	+	4	1096	c.1038T>C	c.(1036-1038)agT>agC	p.S346S	CD101_ENST00000369470.1_Silent_p.S346S	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	346	Ig-like C2-type 3.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGAGAGCAAGTCAAGGAGAGC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	103	103			NA	NA	1		NA											NA				117556224		2203	4300	6503	SO:0001819	synonymous_variant			Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256	9398	9398		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	5949	protein-coding gene	gene with protein product		604516	immunoglobulin superfamily, member 2	IGSF2	NA	7722300	Standard	NM_004258	NM_004258	NA	Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.1038T>C	1.37:g.117556224T>C		NA	Q15856	37	CCDS891.1																																																																																			CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033274.1		+	ENST00000256652.4	Silent	SNP	1 : 117556224 - 117556224 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	318	32
ASB4	51666	broad.mit.edu	37	7	95157465	95157465	+	Silent	SNP	C	C	T	rs146416403	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:95157465C>T	ENST00000325885.5	+	3	899	c.828C>T	c.(826-828)gcC>gcT	p.A276A	ASB4_ENST00000428113.1_Silent_p.A276A	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	276					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			AAGCTGGCGCCGAAGCCAATC	0.577		NA									OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	1	5e-04	NA	NA	2184	NA	0.9999	,	,	NA	2e-04	0.0013	NA	NA	5e-04	0.9049	LOWCOV	NA	NA	5e-04	SNP								NA				0													79	60	66			NA	NA	7		NA											NA				95157465		2203	4300	6503	SO:0001819	synonymous_variant			AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981	51666	51666		Ankyrin repeat domain containing	16009	protein-coding gene	gene with protein product		605761	ankyrin repeat and SOCS box-containing 4		NA		Standard	NM_016116	NM_145872	NA	Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.828C>T	7.37:g.95157465C>T		1310	A4D1H6|O14586	37	CCDS5641.1																																																																																			ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333225.2		+	ENST00000325885.5	Silent	SNP	7 : 95157465 - 95157465 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	65
CABIN1	23523	broad.mit.edu	37	22	24456585	24456585	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24456585G>A	ENST00000405822.2	+	11	1542	c.1448G>A	c.(1447-1449)tGc>tAc	p.C483Y	CABIN1_ENST00000398319.2_Missense_Mutation_p.C533Y|CABIN1_ENST00000263119.5_Missense_Mutation_p.C533Y			Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	533					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTGAGGGACTGCAGCAACAAG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	39	40			NA	NA	22		NA											NA				24456585		2203	4300	6503	SO:0001583	missense			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991	23523	23523			24187	protein-coding gene	gene with protein product		604251			NA	9655484, 9205841	Standard	NM_012295	NM_001199281	NA	Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000405822.2:c.1448G>A	22.37:g.24456585G>A	ENSP00000384694:p.Cys483Tyr	NA	Q9Y460	37		.	.	.	.	.	.	.	.	.	.	G	18.55	3.647862	0.67358	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.75050	-0.9;-0.9;-0.9	5.19	5.19	0.71726	.	0.048717	0.85682	D	0.000000	T	0.77738	0.4175	L	0.40543	1.245	0.80722	D	1	D;D	0.63880	0.993;0.989	P;P	0.59487	0.858;0.726	T	0.75912	-0.3150	10	0.36615	T	0.2	.	14.5566	0.68103	0.0:0.1575:0.8425:0.0	.	483;533	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	Y	533;483;533	ENSP00000263119:C533Y;ENSP00000384694:C483Y;ENSP00000381364:C533Y	ENSP00000263119:C533Y	C	+	2	0	CABIN1	22786585	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.950000	0.70265	2.592000	0.87571	0.644000	0.83932	TGC	CABIN1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000320162.2		+	ENST00000405822.2	Missense_Mutation	SNP	22 : 24456585 - 24456585 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	210	42
RNF112	7732	broad.mit.edu	37	17	19318461	19318461	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19318461G>A	ENST00000461366.1	+	11	1452	c.1237G>A	c.(1237-1239)Gcc>Acc	p.A413T		NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	413							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CGAGGGGCGCGCCGTGGCCAG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA	1,3899		0,1,1949	26	31	29		1237	-3.5	0.5	17		29	0,8286		0,0,4143	no	missense	RNF112	NM_007148.4	58	0,1,6092	AA,AG,GG	NA	0.0,0.0256,0.0082	benign	413/632	19318461	1,12185	1950	4143	6093	SO:0001583	missense			AF054587	CCDS58529.1	17p11.2	2013-01-16	2008-06-13	2008-06-13	ENSG00000128482	ENSG00000128482	7732	7732		RING-type (C3HC4) zinc fingers	12968	protein-coding gene	gene with protein product		601237	zinc finger protein 179	ZNF179	NA	8660987, 9806830	Standard	NM_007148	NM_007148	NA	Approved	BFP	uc010vyw.2	Q9ULX5	OTTHUMG00000059601	ENST00000461366.1:c.1237G>A	17.37:g.19318461G>A	ENSP00000454919:p.Ala413Thr	NA		37	CCDS58529.1																																																																																			RNF112-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132549.4		+	ENST00000461366.1	Missense_Mutation	SNP	17 : 19318461 - 19318461 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	411	89
AREL1	9870	broad.mit.edu	37	14	75142502	75142502	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75142502G>T	ENST00000356357.4	-	8	1495	c.980C>A	c.(979-981)tCc>tAc	p.S327Y	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1	NA											NA						AACAGCAGTGGATGGCCGGCG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	180	175			NA	NA	14		NA											NA				75142502		2107	4229	6336	SO:0001583	missense			AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682	9870	9870			20363	protein-coding gene	gene with protein product		615380	KIAA0317	KIAA0317	NA	9205841, 23479728	Standard	NM_014821	XM_006720344	NA	Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.980C>A	14.37:g.75142502G>T	ENSP00000348714:p.Ser327Tyr	NA		37	CCDS41971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	3.998106|3.998106	0.74818|0.74818	.|.	.|.	ENSG00000119682|ENSG00000119682	ENST00000490805|ENST00000356357;ENST00000543377;ENST00000556202	.|T;T	.|0.51071	.|0.72;0.72	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	.|0.104877	.|0.64402	.|D	.|0.000002	T|T	0.63943|0.63943	0.2554|0.2554	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|D;D	.|0.64830	.|0.994;0.989	.|D;P	.|0.74348	.|0.983;0.795	T|T	0.64428|0.64428	-0.6410|-0.6410	5|10	.|0.72032	.|D	.|0.01	.|.	18.0383|18.0383	0.89312|0.89312	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|327;327	.|O15033-2;O15033	.|.;K0317_HUMAN	T|Y	75|327;166;166	.|ENSP00000348714:S327Y;ENSP00000452101:S166Y	.|ENSP00000348714:S327Y	P|S	-|-	1|2	0|0	KIAA0317|KIAA0317	74212255|74212255	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.453000|0.453000	0.32348|0.32348	9.201000|9.201000	0.95017|0.95017	2.700000|2.700000	0.92200|0.92200	0.467000|0.467000	0.42956|0.42956	CCA|TCC	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335517.2		-	ENST00000356357.4	Missense_Mutation	SNP	14 : 75142502 - 75142502 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1354	254
ATR	545	broad.mit.edu	37	3	142242863	142242863	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142242863T>C	ENST00000350721.4	-	22	4245	c.4124A>G	c.(4123-4125)gAa>gGa	p.E1375G	ATR_ENST00000383101.3_Missense_Mutation_p.E1311G	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1375					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCCTTGAGTTTCAGTTGTTGA	0.393		NA						Other conserved DNA damage response genes						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	111	113			NA	NA	3		NA											NA				142242863		2203	4300	6503	SO:0001583	missense			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054	545	545			882	protein-coding gene	gene with protein product	MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)	601215	ataxia telangiectasia and Rad3 related		NA	8978690, 8610130	Standard	NM_001184	NM_001184	NA	Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.4124A>G	3.37:g.142242863T>C	ENSP00000343741:p.Glu1375Gly	NA	Q59HB2|Q7KYL3|Q93051|Q9BXK4	37	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	T	16.10	3.027794	0.54790	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.05925	3.37;3.85	5.39	5.39	0.77823	Armadillo-like helical (1);	0.285567	0.39475	N	0.001353	T	0.05823	0.0152	N	0.24115	0.695	0.49051	D	0.999744	B	0.02656	0.0	B	0.04013	0.001	T	0.42599	-0.9442	10	0.23891	T	0.37	-9.1976	15.69	0.77442	0.0:0.0:0.0:1.0	.	1375	Q13535	ATR_HUMAN	G	1375;1311	ENSP00000343741:E1375G;ENSP00000372581:E1311G	ENSP00000343741:E1375G	E	-	2	0	ATR	143725553	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.812000	0.69194	2.150000	0.67090	0.533000	0.62120	GAA	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353995.2		-	ENST00000350721.4	Missense_Mutation	SNP	3 : 142242863 - 142242863 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	532	17
KCNG4	93107	broad.mit.edu	37	16	84270731	84270731	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84270731C>T	ENST00000568181.1	-	2	481	c.361G>A	c.(361-363)Ggg>Agg	p.G121R	KCNG4_ENST00000308251.4_Missense_Mutation_p.G121R			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	121						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						ACGATCACCCCGAAGGCGCTG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	53	52			NA	NA	16		NA											NA				84270731		2200	4300	6500	SO:0001583	missense			AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418	93107	93107		Potassium channels, Voltage-gated ion channels / Potassium channels	19697	protein-coding gene	gene with protein product		607603			NA	12060745, 16382104	Standard	NM_172347	NM_172347	NA	Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000568181.1:c.361G>A	16.37:g.84270731C>T	ENSP00000457897:p.Gly121Arg	NA	Q96H24	37		.	.	.	.	.	.	.	.	.	.	C	4.856	0.159132	0.09236	.	.	ENSG00000168418	ENST00000308251	T	0.74842	-0.88	5.12	4.16	0.48862	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.158983	0.56097	D	0.000038	T	0.40067	0.1102	N	0.01277	-0.915	0.38865	D	0.956576	B;P	0.35011	0.008;0.48	B;B	0.26614	0.017;0.071	T	0.43147	-0.9409	10	0.25751	T	0.34	.	8.9585	0.35832	0.0:0.8319:0.0:0.1681	.	121;121	Q8TDN1;Q8TDN1-2	KCNG4_HUMAN;.	R	121	ENSP00000312129:G121R	ENSP00000312129:G121R	G	-	1	0	KCNG4	82828232	0.233000	0.23772	0.820000	0.32676	0.953000	0.61014	0.089000	0.15002	1.144000	0.42321	0.549000	0.68633	GGG	KCNG4-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000433397.1		-	ENST00000568181.1	Missense_Mutation	SNP	16 : 84270731 - 84270731 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	49
UBLCP1	134510	broad.mit.edu	37	5	158696032	158696032	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:158696032G>T	ENST00000296786.6	+	2	435	c.109G>T	c.(109-111)Gga>Tga	p.G37*		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	37	Ubiquitin-like.					nucleus	phosphoprotein phosphatase activity			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GACCCTTACAGGAGTTCTTCC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	97	98			NA	NA	5		NA											NA				158696032		2203	4300	6503	SO:0001587	stop_gained			AK057996	CCDS4345.1	5q33.3	2010-06-21			ENSG00000164332	ENSG00000164332	134510	134510	3.1.3.16	Serine/threonine phosphatases / CTD aspartate-based phosphatases	28110	protein-coding gene	gene with protein product	CTD phosphatase-like with ubiquitin domain 1	609867			NA	15883030	Standard	NM_145049	NM_145049	NA	Approved	MGC10067, CPUB1	uc003lxq.2	Q8WVY7	OTTHUMG00000130305	ENST00000296786.6:c.109G>T	5.37:g.158696032G>T	ENSP00000296786:p.Gly37*	NA	D3DQJ7|Q96DK5	37	CCDS4345.1	.	.	.	.	.	.	.	.	.	.	G	40	8.445000	0.98815	.	.	ENSG00000164332	ENST00000296786	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-13.2913	20.547	0.99278	0.0:0.0:1.0:0.0	.	.	.	.	X	37	.	ENSP00000296786:G37X	G	+	1	0	UBLCP1	158628610	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.434000	0.97515	2.850000	0.98022	0.650000	0.86243	GGA	UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252650.2		+	ENST00000296786.6	Nonsense_Mutation	SNP	5 : 158696032 - 158696032 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	536	100
FRMD4B	23150	broad.mit.edu	37	3	69230103	69230103	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69230103G>T	ENST00000398540.3	-	21	2881	c.2798C>A	c.(2797-2799)gCg>gAg	p.A933E	FRMD4B_ENST00000542259.1_Missense_Mutation_p.A879E|FRMD4B_ENST00000478263.1_Missense_Mutation_p.A585E	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	933						cytoplasm|cytoskeleton	binding	p.A879V(2)|p.A933V(1)		NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TTGCAGCCCCGCAAACCCCAG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				3	Substitution - Missense(3)	kidney(2)|prostate(1)											85	83	84			NA	NA	3		NA											NA				69230103		1992	4158	6150	SO:0001583	missense			AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541	23150	23150			24886	protein-coding gene	gene with protein product					NA	10231032, 11445584	Standard		XM_005264720	NA	Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.2798C>A	3.37:g.69230103G>T	ENSP00000381549:p.Ala933Glu	NA	Q8TAI3	37	CCDS46863.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.446531	0.25987	.	.	ENSG00000114541	ENST00000398540;ENST00000542259;ENST00000478263	D;D	0.83075	-1.68;-1.68	5.83	4.95	0.65309	.	0.561852	0.19950	N	0.102453	T	0.79724	0.4495	L	0.51422	1.61	0.09310	N	0.999999	B;B	0.20887	0.033;0.049	B;B	0.20384	0.027;0.029	T	0.67719	-0.5598	10	0.35671	T	0.21	-1.3754	15.4314	0.75102	0.0:0.2619:0.7381:0.0	.	777;933	B4DHD5;Q9Y2L6	.;FRM4B_HUMAN	E	933;879;585	ENSP00000381549:A933E;ENSP00000437658:A879E	ENSP00000381549:A933E	A	-	2	0	FRMD4B	69312793	0.887000	0.30362	0.233000	0.24025	0.801000	0.45260	3.820000	0.55693	1.438000	0.47492	0.591000	0.81541	GCG	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352111.1		-	ENST00000398540.3	Missense_Mutation	SNP	3 : 69230103 - 69230103 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	402	74
KIF20B	9585	broad.mit.edu	37	10	91477381	91477381	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91477381G>A	ENST00000371728.3	+	11	1238	c.1173G>A	c.(1171-1173)caG>caA	p.Q391Q	KIF20B_ENST00000260753.4_Silent_p.Q391Q|KIF20B_ENST00000394289.2_Silent_p.Q391Q|KIF20B_ENST00000416354.1_Silent_p.Q391Q	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	391	Kinesin-motor.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TGAAGACACAGAATGAAGGTG	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	134	131			NA	NA	10		NA											NA				91477381		2203	4300	6503	SO:0001819	synonymous_variant			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182	9585	9585			7212	protein-coding gene	gene with protein product	cancer/testis antigen 90	605498	M-phase phosphoprotein 1	MPHOSPH1	NA	8885239, 8290587, 11470801	Standard	NM_016195	NM_016195	NA	Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.1173G>A	10.37:g.91477381G>A		NA	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	37																																																																																				KIF20B-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000049330.1		+	ENST00000371728.3	Silent	SNP	10 : 91477381 - 91477381 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	579	114
FRMD4A	55691	broad.mit.edu	37	10	13698655	13698655	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13698655C>A	ENST00000357447.2	-	22	3302	c.2934G>T	c.(2932-2934)caG>caT	p.Q978H	FRMD4A_ENST00000358621.4_Missense_Mutation_p.Q963H|FRMD4A_ENST00000378503.1_Missense_Mutation_p.Q978H	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	978	Ser-rich.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CCTTGCACATCTGGGGCATCC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	36	37			NA	NA	10		NA											NA				13698655		2202	4300	6502	SO:0001583	missense			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474	55691	55691			25491	protein-coding gene	gene with protein product			FERM domain containing 4	FRMD4	NA	10718198	Standard	NM_018027	NM_018027	NA	Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.2934G>T	10.37:g.13698655C>A	ENSP00000350032:p.Gln978His	NA	A7E2Y3|Q5T377	37	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.673393	0.29693	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503	D;D;D	0.83755	-1.76;-1.76;-1.76	4.78	4.78	0.61160	.	0.112219	0.64402	D	0.000010	T	0.65428	0.2690	N	0.08118	0	0.28951	N	0.890379	P	0.39576	0.679	B	0.34722	0.188	T	0.66728	-0.5850	10	0.52906	T	0.07	-17.5835	11.3625	0.49651	0.0:0.9164:0.0:0.0836	.	978	Q9P2Q2	FRM4A_HUMAN	H	963;978;978	ENSP00000351438:Q963H;ENSP00000350032:Q978H;ENSP00000367764:Q978H	ENSP00000350032:Q978H	Q	-	3	2	FRMD4A	13738661	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	3.042000	0.49815	2.196000	0.70406	0.205000	0.17691	CAG	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046889.1		-	ENST00000357447.2	Missense_Mutation	SNP	10 : 13698655 - 13698655 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	118	8
CLK2	1196	broad.mit.edu	37	1	155236524	155236524	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155236524G>A	ENST00000368361.4	-	7	1149	c.834C>T	c.(832-834)gtC>gtT	p.V278V	CLK2_ENST00000536801.1_Silent_p.V278V|CLK2_ENST00000355560.4_Silent_p.V276V|CLK2_ENST00000361168.5_Silent_p.V277V|CLK2_ENST00000497188.1_5'UTR			P49760	CLK2_HUMAN	CDC-like kinase 2	278	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACTCACACTTGACAGCCTGGC	0.572		NA						Other conserved DNA damage response genes						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	78	81			NA	NA	1		NA											NA				155236524		2203	4300	6503	SO:0001819	synonymous_variant			L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444	1196	1196		CDC-like kinases	2069	protein-coding gene	gene with protein product		602989			NA	7990150, 9856501	Standard	NM_003993	XM_005244876	NA	Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.834C>T	1.37:g.155236524G>A		NA	B1AVS9|B5MBX6|Q96CQ0	37																																																																																				CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000087391.1		-	ENST00000368361.4	Silent	SNP	1 : 155236524 - 155236524 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	237	58
PCDHGA7	56108	broad.mit.edu	37	5	140764319	140764319	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140764319C>T	ENST00000518325.1	+	1	1853	c.1853C>T	c.(1852-1854)gCg>gTg	p.A618V	PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018920.2	NP_061743.1			protocadherin gamma subfamily A, 7	NA										NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACTCTTTGCGGTTGGGCTG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	56	53			NA	NA	5		NA											NA				140764319		2203	4300	6503	SO:0001583	missense			AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537	56108	56108		Cadherins / Protocadherins : Clustered	8705	other	protocadherin		606294			NA	10380929	Standard	NM_018920	NM_018920	NA	Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.1853C>T	5.37:g.140764319C>T	ENSP00000430024:p.Ala618Val	NA		37	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	3.265	-0.150381	0.06585	.	.	ENSG00000253537	ENST00000518325	T	0.53206	0.63	5.01	0.145	0.14829	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.28134	0.0694	N	0.17278	0.47	0.09310	N	1	B;B	0.13145	0.007;0.005	B;B	0.19391	0.025;0.005	T	0.24190	-1.0167	9	0.72032	D	0.01	.	4.0537	0.09806	0.2449:0.4047:0.0:0.3505	.	618;618	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	V	618	ENSP00000430024:A618V	ENSP00000430024:A618V	A	+	2	0	PCDHGA7	140744503	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-2.477000	0.00985	-0.210000	0.10140	-0.123000	0.14984	GCG	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374744.1		+	ENST00000518325.1	Missense_Mutation	SNP	5 : 140764319 - 140764319 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	499	26
THOC1	9984	broad.mit.edu	37	18	265360	265360	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:265360T>G	ENST00000261600.6	-	3	139	c.132A>C	c.(130-132)gaA>gaC	p.E44D	THOC1_ENST00000582313.1_5'UTR	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	44					apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TTTTTTCATTTTCACTATTAA	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	50	51			NA	NA	18		NA											NA				265360		1799	4065	5864	SO:0001583	missense			AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134	9984	9984		THO complex subunits	19070	protein-coding gene	gene with protein product		606930			NA	11979277	Standard	NM_005131	NM_005131	NA	Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.132A>C	18.37:g.265360T>G	ENSP00000261600:p.Glu44Asp	NA	B2RBP6|Q15219|Q64I72|Q64I73	37	CCDS45820.1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.086039	0.36855	.	.	ENSG00000079134	ENST00000261600	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.44244	0.1284	L	0.27053	0.805	0.50039	D	0.999844	B;B	0.32467	0.285;0.372	B;B	0.30943	0.122;0.108	T	0.36504	-0.9745	9	0.14252	T	0.57	-17.3277	16.2861	0.82722	0.0:0.0:0.0:1.0	.	44;44	Q96FV9-2;Q96FV9	.;THOC1_HUMAN	D	44	.	ENSP00000261600:E44D	E	-	3	2	THOC1	255360	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.961000	0.56759	2.322000	0.78497	0.528000	0.53228	GAA	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000440348.5		-	ENST00000261600.6	Missense_Mutation	SNP	18 : 265360 - 265360 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	101	21
MKRN2	23609	broad.mit.edu	37	3	12613662	12613662	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12613662G>A	ENST00000411987.1	+	3	367	c.303G>A	c.(301-303)ccG>ccA	p.P101P	MKRN2_ENST00000170447.7_Silent_p.P144P|MKRN2_ENST00000448482.1_Silent_p.P142P			Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	144						intracellular	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						AGATGAAGCCGCATTCCTACC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	62	61			NA	NA	3		NA											NA				12613662		2203	4300	6503	SO:0001819	synonymous_variant				CCDS33702.1, CCDS63545.1	3p25	2008-08-13	2008-08-13		ENSG00000075975	ENSG00000075975	23609	23609		RING-type (C3HC4) zinc fingers	7113	protein-coding gene	gene with protein product		608426			NA	11597136	Standard	NM_014160	NM_014160	NA	Approved	RNF62, HSPC070	uc003bxd.4	Q9H000	OTTHUMG00000155371	ENST00000411987.1:c.303G>A	3.37:g.12613662G>A		NA	A6NIA2|B3KRC5|Q8N391|Q96BD4|Q9BUY2|Q9NRY1	37																																																																																				MKRN2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000339680.1		+	ENST00000411987.1	Silent	SNP	3 : 12613662 - 12613662 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	59
SLC6A6	6533	broad.mit.edu	37	3	14518805	14518805	+	Silent	SNP	C	C	T	rs145506460		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14518805C>T	ENST00000454876.2	+	11	1631	c.1302C>T	c.(1300-1302)ttC>ttT	p.F434F	SLC6A6_ENST00000360861.3_Silent_p.F434F			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	434					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						TCATCGCCTTCGTGTGTAGCA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	132	142			NA	NA	3		NA											NA				14518805		2203	4300	6503	SO:0001819	synonymous_variant				CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389	6533	6533		Solute carriers	11052	protein-coding gene	gene with protein product	taurine transporter	186854	solute carrier family 6 (neurotransmitter transporter, taurine), member 6		NA	8010975, 8382624	Standard	NM_003043	XM_006713307	NA	Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.1302C>T	3.37:g.14518805C>T		NA	Q9BXB0	37	CCDS33705.1																																																																																			SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340507.1		+	ENST00000454876.2	Silent	SNP	3 : 14518805 - 14518805 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	512	108
MANSC1	54682	broad.mit.edu	37	12	12496182	12496182	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12496182G>T	ENST00000535902.1	-	2	630	c.67C>A	c.(67-69)Ctg>Atg	p.L23M	MANSC1_ENST00000396349.3_Intron			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	23						integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		CTAGCAGACAGCCTTAGTGTC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	113	116			NA	NA	12		NA											NA				12496182		2203	4300	6503	SO:0001583	missense			AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261	54682	54682			25505	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_018050	NM_018050	NA	Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.67C>A	12.37:g.12496182G>T	ENSP00000438205:p.Leu23Met	NA	Q8NEC1	37	CCDS8648.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.660531	0.29515	.	.	ENSG00000111261	ENST00000535902;ENST00000543314	T;T	0.49139	2.2;0.79	5.33	4.43	0.53597	.	0.762541	0.10293	N	0.692124	T	0.49983	0.1589	L	0.29908	0.895	0.09310	N	0.999992	D	0.64830	0.994	P	0.57371	0.819	T	0.33292	-0.9874	10	0.54805	T	0.06	0.5003	8.0655	0.30659	0.0867:0.1588:0.7545:0.0	.	23	Q9H8J5	MANS1_HUMAN	M	23	ENSP00000438205:L23M;ENSP00000437624:L23M	ENSP00000438205:L23M	L	-	1	2	MANSC1	12387449	0.026000	0.19158	0.056000	0.19401	0.210000	0.24377	1.945000	0.40273	1.198000	0.43158	0.655000	0.94253	CTG	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400144.1		-	ENST00000535902.1	Missense_Mutation	SNP	12 : 12496182 - 12496182 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	444	71
PKDREJ	10343	broad.mit.edu	37	22	46653832	46653832	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46653832T>G	ENST00000253255.5	-	1	5387	c.5388A>C	c.(5386-5388)caA>caC	p.Q1796H		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1796					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TTGCTCTCACTTGCCTCATCA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	164	164			NA	NA	22		NA											NA				46653832		2203	4300	6503	SO:0001583	missense			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943	10343	10343			9015	protein-coding gene	gene with protein product		604670	polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like, polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like, polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)		NA	9949214, 10591208	Standard	NM_006071	NM_006071	NA	Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.5388A>C	22.37:g.46653832T>G	ENSP00000253255:p.Gln1796His	NA	B1AJY3|O95850	37	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	T	18.67	3.672873	0.67928	.	.	ENSG00000130943	ENST00000253255	T	0.74737	-0.87	4.8	-2.72	0.05968	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.52532	D	0.000062	T	0.81987	0.4939	M	0.78637	2.42	0.35820	D	0.824515	D	0.89917	1.0	D	0.77004	0.989	T	0.82853	-0.0252	10	0.87932	D	0	-21.0554	10.1347	0.42699	0.0:0.3969:0.0:0.6031	.	1796	Q9NTG1	PKDRE_HUMAN	H	1796	ENSP00000253255:Q1796H	ENSP00000253255:Q1796H	Q	-	3	2	PKDREJ	45032496	0.656000	0.27385	0.977000	0.42913	0.968000	0.65278	-0.152000	0.10159	-0.478000	0.06823	0.254000	0.18369	CAA	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318466.1		-	ENST00000253255.5	Missense_Mutation	SNP	22 : 46653832 - 46653832 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1313	133
NCAM2	4685	broad.mit.edu	37	21	22658710	22658710	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22658710G>A	ENST00000400546.1	+	4	708	c.459G>A	c.(457-459)gaG>gaA	p.E153E	NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Silent_p.E178E	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	153	Ig-like C2-type 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ATCATAATGAGGAAGTCACCA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	121	124			NA	NA	21		NA											NA				22658710		2004	4172	6176	SO:0001819	synonymous_variant				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654	4685	4685		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	7657	protein-coding gene	gene with protein product		602040			NA	9226371	Standard	NM_004540	NM_004540	NA	Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.459G>A	21.37:g.22658710G>A		NA	A8MQ06|Q7Z7F2	37	CCDS42910.1																																																																																			NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000170915.1		+	ENST00000400546.1	Silent	SNP	21 : 22658710 - 22658710 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	53
TMX4	56255	broad.mit.edu	37	20	7963119	7963119	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:7963119C>T	ENST00000246024.2	-	8	1044	c.829G>A	c.(829-831)Gag>Aag	p.E277K		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	277	Glu-rich.				cell redox homeostasis|electron transport chain|transport	integral to membrane				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						tcttcttcctctgcttcatcc	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	116	128			NA	NA	20		NA											NA				7963119		2203	4300	6503	SO:0001583	missense				CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827	56255	56255		Protein disulfide isomerases	25237	protein-coding gene	gene with protein product	protein disulfide isomerase family A, member 14		thioredoxin domain containing 13	TXNDC13	NA		Standard	NM_021156	NM_021156	NA	Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.829G>A	20.37:g.7963119C>T	ENSP00000246024:p.Glu277Lys	NA	Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	37	CCDS13101.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092491	0.36952	.	.	ENSG00000125827	ENST00000246024	T	0.11821	2.74	5.33	5.33	0.75918	.	0.249655	0.36101	N	0.002798	T	0.19287	0.0463	L	0.35288	1.05	0.38875	D	0.956772	D	0.55172	0.97	P	0.51833	0.681	T	0.00728	-1.1591	10	0.72032	D	0.01	-5.5676	14.8709	0.70456	0.0:1.0:0.0:0.0	.	277	Q9H1E5	TMX4_HUMAN	K	277	ENSP00000246024:E277K	ENSP00000246024:E277K	E	-	1	0	TMX4	7911119	0.583000	0.26757	0.955000	0.39395	0.461000	0.32589	4.085000	0.57657	2.653000	0.90120	0.557000	0.71058	GAG	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077928.2		-	ENST00000246024.2	Missense_Mutation	SNP	20 : 7963119 - 7963119 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	335	64
KCNQ3	3786	broad.mit.edu	37	8	133187774	133187774	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133187774G>A	ENST00000388996.4	-	5	1279	c.859C>T	c.(859-861)Cca>Tca	p.P287S	KCNQ3_ENST00000519445.1_Missense_Mutation_p.P287S|KCNQ3_ENST00000521134.1_Missense_Mutation_p.P167S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	287					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TCCACCTCTGGGACGTCTTTC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	127	130			NA	NA	8		NA											NA				133187774		2203	4300	6503	SO:0001583	missense			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156	3786	3786		Potassium channels, Voltage-gated ion channels / Potassium channels	6297	protein-coding gene	gene with protein product		602232		EBN2	NA	9425900, 16382104	Standard	NM_004519	NM_004519	NA	Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.859C>T	8.37:g.133187774G>A	ENSP00000373648:p.Pro287Ser	NA		37	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174095	0.57692	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.97430	-4.38;-4.38;-4.38	5.39	5.39	0.77823	Ion transport (1);	0.061356	0.64402	D	0.000003	D	0.96703	0.8924	L	0.39514	1.22	0.40614	D	0.981702	P;B	0.48089	0.905;0.44	P;B	0.52823	0.71;0.138	D	0.97520	1.0072	10	0.66056	D	0.02	-15.9165	18.5028	0.90888	0.0:0.0:1.0:0.0	.	287;287	E7ET42;O43525	.;KCNQ3_HUMAN	S	287;167;287;276;166	ENSP00000373648:P287S;ENSP00000429799:P167S;ENSP00000428790:P287S	ENSP00000373648:P287S	P	-	1	0	KCNQ3	133256956	1.000000	0.71417	0.993000	0.49108	0.957000	0.61999	4.478000	0.60230	2.674000	0.91012	0.655000	0.94253	CCA	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268621.2		-	ENST00000388996.4	Missense_Mutation	SNP	8 : 133187774 - 133187774 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	407	59
ZNF521	25925	broad.mit.edu	37	18	22902012	22902012	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22902012G>A	ENST00000361524.3	-	3	328	c.180C>T	c.(178-180)agC>agT	p.S60S	ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000538137.2_Silent_p.S60S|ZNF521_ENST00000579111.1_5'UTR	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	60					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTGTGATATCGCTCAGCGATT	0.428		NA	T	PAX5	ALL								g	1	5e-04	NA	0.0028	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	4e-04	0.8999	LOWCOV,EXOME	NA	NA	2e-04	SNP			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0								A		0,4406		0,0,2203	144	128	133		180	3.3	1	18		133	1,8599		0,1,4299	no	coding-synonymous	ZNF521	NM_015461.2		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		60/1312	22902012	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795	25925	25925		Zinc fingers, C2H2-type	24605	protein-coding gene	gene with protein product	early hematopoietic zinc finger	610974			NA	11984006, 14630787	Standard	NM_015461	NM_015461	NA	Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.180C>T	18.37:g.22902012G>A		NA	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	37	CCDS32806.1																																																																																			ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000446781.2		-	ENST00000361524.3	Silent	SNP	18 : 22902012 - 22902012 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	576	98
NQO2	4835	broad.mit.edu	37	6	3017130	3017130	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:3017130C>T	ENST00000338130.2	+	9	1142	c.430C>T	c.(430-432)Ctc>Ttc	p.L144F	NQO2_ENST00000380455.4_Missense_Mutation_p.L144F|NQO2_ENST00000380430.1_Missense_Mutation_p.L144F|NQO2_ENST00000380441.1_Missense_Mutation_p.L106F|NQO2_ENST00000380454.4_Missense_Mutation_p.L106F			P16083	NQO2_HUMAN	NAD(P)H dehydrogenase, quinone 2	144						cytoplasm|nucleus	coenzyme binding|dihydronicotinamide riboside quinone reductase activity|electron carrier activity|metal ion binding|NADPH dehydrogenase (quinone) activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Menadione(DB00170)|NADH(DB00157)	TAAACTAGCGCTCCTTTCCGT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	99	110			NA	NA	6		NA											NA				3017130		2203	4300	6503	SO:0001583	missense			U07736	CCDS4481.1, CCDS75388.1	6p25.2	2012-09-20	2001-11-30	2001-12-07	ENSG00000124588	ENSG00000124588	4835	4835	1.6.5.2		7856	protein-coding gene	gene with protein product		160998	NAD(P)H menadione oxidoreductase 2, dioxin-inducible	NMOR2	NA	1691923	Standard		XM_005249152	NA	Approved	QR2, DHQV, DIA6	uc003mus.2	P16083	OTTHUMG00000014130	ENST00000338130.2:c.430C>T	6.37:g.3017130C>T	ENSP00000337773:p.Leu144Phe	NA	B2R492|Q5TD04	37	CCDS4481.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009775	0.35415	.	.	ENSG00000124588	ENST00000338130;ENST00000380441;ENST00000380455;ENST00000380454;ENST00000380430	T;T;T;T;T	0.12361	2.69;2.96;2.69;2.96;2.69	5.4	4.52	0.55395	Flavodoxin-like fold (1);	0.108382	0.64402	D	0.000013	T	0.16896	0.0406	M	0.69463	2.115	0.39564	D	0.969173	D	0.56287	0.975	P	0.61132	0.884	T	0.02075	-1.1218	10	0.59425	D	0.04	-27.4601	6.6329	0.22867	0.337:0.5798:0.0:0.0831	.	144	P16083	NQO2_HUMAN	F	144;106;144;106;144	ENSP00000337773:L144F;ENSP00000369806:L106F;ENSP00000369822:L144F;ENSP00000369821:L106F;ENSP00000369795:L144F	ENSP00000337773:L144F	L	+	1	0	NQO2	2962129	0.541000	0.26417	0.022000	0.16811	0.025000	0.11179	0.754000	0.26390	1.246000	0.43901	0.563000	0.77884	CTC	NQO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039651.1		+	ENST00000338130.2	Missense_Mutation	SNP	6 : 3017130 - 3017130 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	213	27
FER	2241	broad.mit.edu	37	5	108516585	108516585	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108516585C>T	ENST00000281092.4	+	18	2570	c.2186C>T	c.(2185-2187)cCg>cTg	p.P729L	FER_ENST00000438717.2_Missense_Mutation_p.P554L	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	729	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TGGACAGCACCGGAAGCTCTT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(146;1051 1799 9836 27344 47401)							NA				0													90	86	87			NA	NA	5		NA											NA				108516585		2202	4300	6502	SO:0001583	missense			J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2241	2241	2.7.10.1	Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, SH2 domain containing	3655	protein-coding gene	gene with protein product	phosphoprotein NCP94, protein phosphatase 1, regulatory subunit 74	176942			NA		Standard	NM_005246	NM_005246	NA	Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.2186C>T	5.37:g.108516585C>T	ENSP00000281092:p.Pro729Leu	NA	B2RCR4|B4DSQ2	37	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874551	0.91664	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	T;T	0.79749	-1.3;-1.3	5.63	5.63	0.86233	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92322	0.7564	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93461	0.6810	10	0.87932	D	0	-15.3907	19.6891	0.95991	0.0:1.0:0.0:0.0	.	729	P16591	FER_HUMAN	L	729;554	ENSP00000281092:P729L;ENSP00000394297:P554L	ENSP00000281092:P729L	P	+	2	0	FER	108544484	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.814000	0.86154	2.641000	0.89580	0.650000	0.86243	CCG	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250664.1		+	ENST00000281092.4	Missense_Mutation	SNP	5 : 108516585 - 108516585 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	465	80
PARP14	54625	broad.mit.edu	37	3	122411328	122411328	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122411328A>C	ENST00000474629.2	+	4	802	c.536A>C	c.(535-537)gAc>gCc	p.D179A		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TCTAATGATGACTTTCAAGTG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	147	150			NA	NA	3		NA											NA				122411328		1876	4108	5984	SO:0001583	missense			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193	54625	54625		Poly (ADP-ribose) polymerases	29232	protein-coding gene	gene with protein product		610028			NA	15273990	Standard	NM_017554	NM_017554	NA	Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.536A>C	3.37:g.122411328A>C	ENSP00000418194:p.Asp179Ala	NA	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	37	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	A	11.18	1.563013	0.27915	.	.	ENSG00000173193	ENST00000474629	T	0.71934	-0.61	5.5	5.5	0.81552	.	.	.	.	.	T	0.70535	0.3235	M	0.70275	2.135	0.45261	D	0.998264	B	0.20887	0.049	B	0.19666	0.026	T	0.69239	-0.5197	9	0.54805	T	0.06	.	14.5787	0.68271	1.0:0.0:0.0:0.0	.	179	Q460N5	PAR14_HUMAN	A	179	ENSP00000418194:D179A	ENSP00000420649:D20A	D	+	2	0	PARP14	123894018	0.999000	0.42202	0.595000	0.28798	0.005000	0.04900	3.070000	0.50033	2.308000	0.77769	0.533000	0.62120	GAC	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356173.2		+	ENST00000474629.2	Missense_Mutation	SNP	3 : 122411328 - 122411328 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	180	40
CSPG4	1464	broad.mit.edu	37	15	75980460	75980460	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75980460A>G	ENST00000308508.5	-	3	3038	c.2946T>C	c.(2944-2946)gaT>gaC	p.D982D		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	982	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ATGGGATATCATCTTCTGTGG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	88	87			NA	NA	15		NA											NA				75980460		2197	4293	6490	SO:0001819	synonymous_variant			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546	1464	1464		Proteoglycans / Cell surface : Other	2466	protein-coding gene	gene with protein product	melanoma-associated chondroitin sulfate proteoglycan	601172	chondroitin sulfate proteoglycan 4 (melanoma-associated)		NA	8790396, 16407841	Standard	NM_001897	NM_001897	NA	Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.2946T>C	15.37:g.75980460A>G		NA	D3DW77|Q92675	37	CCDS10284.1																																																																																			CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286472.1		-	ENST00000308508.5	Silent	SNP	15 : 75980460 - 75980460 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	770	144
SYNE1	23345	broad.mit.edu	37	6	152749391	152749391	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152749391C>A	ENST00000367255.5	-	37	5526	c.4925G>T	c.(4924-4926)aGg>aTg	p.R1642M	SYNE1_ENST00000367253.4_Missense_Mutation_p.R1642M|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1712M|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1649M|SYNE1_ENST00000448038.1_Missense_Mutation_p.R1649M|SYNE1_ENST00000265368.4_Missense_Mutation_p.R1642M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1642					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCCTTCGCCCTCCTTAGGAT	0.532		NA								HNSCC(10;0.0054)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													194	198	196			NA	NA	6		NA											NA				152749391		2203	4300	6503	SO:0001583	missense			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018	23345	23345			17089	protein-coding gene	gene with protein product	myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1	608441	chromosome 6 open reading frame 98	C6orf98	NA	9872452, 10878022	Standard	NM_182961	NM_182961	NA	Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4925G>T	6.37:g.152749391C>A	ENSP00000356224:p.Arg1642Met	NA	O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	10.11	1.259821	0.23051	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61	5.87	-11.7	0.00046	.	1.048510	0.07479	N	0.903606	T	0.11750	0.0286	N	0.08118	0	0.09310	N	0.999998	B;P;P;P;P	0.39131	0.291;0.661;0.606;0.661;0.474	B;B;B;B;B	0.43575	0.125;0.155;0.424;0.155;0.333	T	0.54543	-0.8278	10	0.46703	T	0.11	.	13.5599	0.61782	0.0625:0.1615:0.066:0.71	.	1625;1642;1642;1642;1649	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	M	1642;1649;1642;1649;1712;1642	ENSP00000356224:R1642M;ENSP00000396024:R1649M;ENSP00000265368:R1642M;ENSP00000390975:R1649M;ENSP00000341887:R1712M;ENSP00000356222:R1642M	ENSP00000265368:R1642M	R	-	2	0	SYNE1	152791084	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.712000	0.01885	-3.066000	0.00255	-0.782000	0.03352	AGG	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334755.2		-	ENST00000367255.5	Missense_Mutation	SNP	6 : 152749391 - 152749391 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1380	30
PCLO	27445	broad.mit.edu	37	7	82453599	82453599	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82453599G>A	ENST00000333891.9	-	19	14886	c.14549C>T	c.(14548-14550)tCt>tTt	p.S4850F	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000423517.2_Missense_Mutation_p.S4850F	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	NA					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTGATAACAGATGGCTTTGG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	101	103			NA	NA	7		NA											NA				82453599		1979	4163	6142	SO:0001583	missense			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472	27445	27445			13406	protein-coding gene	gene with protein product	aczonin	604918	piccolo (presynaptic cytomatrix protein)		NA	8900486, 9628581	Standard	NM_014510	NM_014510	NA	Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.14549C>T	7.37:g.82453599G>A	ENSP00000334319:p.Ser4850Phe	NA	A4D1A7|A6NNX9|O43373|O60305|Q08E72|Q9BVC8|Q9UIV2|Q9Y6U9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916034	0.52546	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000380195	T;T	0.20069	2.15;2.1	5.48	5.48	0.80851	.	.	.	.	.	T	0.39091	0.1065	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.998	D;D;D;D	0.91635	0.999;0.999;0.996;0.991	T	0.18618	-1.0331	9	0.87932	D	0	.	19.3454	0.94361	0.0:0.0:1.0:0.0	.	4850;4850;271;338	Q9Y6V0-5;Q9Y6V0-6;Q9Y6V0-3;Q32P40	.;.;.;.	F	4850;4850;337	ENSP00000334319:S4850F;ENSP00000388393:S4850F	ENSP00000334319:S4850F	S	-	2	0	PCLO	82291535	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.583000	0.87209	0.591000	0.81541	TCT	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337368.5		-	ENST00000333891.9	Missense_Mutation	SNP	7 : 82453599 - 82453599 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	145	32
C2orf16	84226	broad.mit.edu	37	2	27801528	27801528	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27801528G>A	ENST00000408964.2	+	1	2140	c.2089G>A	c.(2089-2091)Gtt>Att	p.V697I		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	697										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GCCTCCTAAAGTTATGGAAAC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	71	72			NA	NA	2		NA											NA				27801528		1863	4106	5969	SO:0001583	missense			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843	84226	84226			25275	protein-coding gene	gene with protein product	P-S-E-R-S-H-H-S repeats containing				NA		Standard	NM_032266	NM_032266	NA	Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.2089G>A	2.37:g.27801528G>A	ENSP00000386190:p.Val697Ile	NA	B9EIQ4|Q53S01|Q8ND64|Q9H088	37	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	3.289	-0.145322	0.06627	.	.	ENSG00000221843	ENST00000408964	T	0.07567	3.18	4.27	1.33	0.21861	.	.	.	.	.	T	0.03477	0.0100	N	0.08118	0	0.09310	N	1	B	0.22909	0.077	B	0.23419	0.046	T	0.46624	-0.9178	9	0.19590	T	0.45	.	2.6937	0.05128	0.1072:0.1794:0.5284:0.185	.	697	Q68DN1	CB016_HUMAN	I	697	ENSP00000386190:V697I	ENSP00000386190:V697I	V	+	1	0	C2orf16	27655032	0.556000	0.26538	0.135000	0.22099	0.102000	0.19082	0.941000	0.29005	0.277000	0.22141	-0.264000	0.10439	GTT	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353292.1		+	ENST00000408964.2	Missense_Mutation	SNP	2 : 27801528 - 27801528 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	593	78
MOSPD3	64598	broad.mit.edu	37	7	100210841	100210841	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100210841A>G	ENST00000393950.2	+	2	512	c.230A>G	c.(229-231)tAc>tGc	p.Y77C	MOSPD3_ENST00000223054.4_Missense_Mutation_p.Y77C|MOSPD3_ENST00000379527.2_Missense_Mutation_p.Y77C|MOSPD3_ENST00000424091.2_Missense_Mutation_p.Y77C	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	77	MSP.					integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCTGCCAAATACACGGTGTTT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													231	203	212			NA	NA	7		NA											NA				100210841		2203	4300	6503	SO:0001583	missense			BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330	64598	64598			25078	protein-coding gene	gene with protein product		609125			NA	15533722	Standard	NM_023948	XM_005250531	NA	Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.230A>G	7.37:g.100210841A>G	ENSP00000377522:p.Tyr77Cys	NA	A4D2D1|A6NG17|D6W5W1|O75423|O75424	37	CCDS5701.1	.	.	.	.	.	.	.	.	.	.	A	19.11	3.763357	0.69763	.	.	ENSG00000106330	ENST00000223054;ENST00000493970;ENST00000379527;ENST00000393950;ENST00000424091;ENST00000393953	T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0	3.85	3.85	0.44370	PapD-like (2);	0.259259	0.26746	N	0.022719	D	0.82595	0.5071	L	0.61036	1.89	0.45216	D	0.998222	D;D	0.89917	1.0;0.983	D;P	0.87578	0.998;0.88	D	0.84133	0.0413	10	0.87932	D	0	-1.438	11.3049	0.49329	1.0:0.0:0.0:0.0	.	77;77	C9JE89;O75425	.;MSPD3_HUMAN	C	77;77;77;77;77;63	ENSP00000223054:Y77C;ENSP00000417276:Y77C;ENSP00000368842:Y77C;ENSP00000377522:Y77C;ENSP00000404626:Y77C	ENSP00000223054:Y77C	Y	+	2	0	MOSPD3	100048777	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.788000	0.47806	1.994000	0.58287	0.374000	0.22700	TAC	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356395.1		+	ENST00000393950.2	Missense_Mutation	SNP	7 : 100210841 - 100210841 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1125	232
USP6	9098	broad.mit.edu	37	17	5040979	5040979	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5040979G>A	ENST00000574788.1	+	20	3089	c.859G>A	c.(859-861)Gtg>Atg	p.V287M	USP6_ENST00000332776.4_Missense_Mutation_p.V287M|USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.V287M			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	287	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCTGTGGGACGTGTATTTGGT	0.587		NA	T	COL1A1, CDH11, ZNF9, OMD	aneurysmal bone cysts									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0													229	214	219			NA	NA	17		NA											NA				5040979		2203	4300	6503	SO:0001583	missense			X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	9098	9098	3.4.19.12	Ubiquitin-specific peptidases	12629	protein-coding gene	gene with protein product	ubiquitin carboxyl-terminal hydrolase 6, TBC1D3 and USP32 fusion, Tre-2 oncogene	604334	ubiquitin specific protease 6 (Tre-2 oncogene), TRE oncogene, Smith Magenis syndrome chromosome region, ubiquitin specific peptidase 6 (Tre-2 oncogene)	HRP1, TRESMCR	NA	12838346, 1349106	Standard	NM_004505	NM_004505	NA	Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.859G>A	17.37:g.5040979G>A	ENSP00000460380:p.Val287Met	NA	Q15634|Q86WP6|Q8IWT4	37	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	G	14.65	2.598163	0.46318	.	.	ENSG00000129204	ENST00000332776;ENST00000250066	T;T	0.43294	0.95;0.95	.	.	.	Rab-GAP/TBC domain (4);	1.338740	0.04428	N	0.368799	T	0.42585	0.1209	L	0.46670	1.46	0.80722	D	1	D	0.63046	0.992	P	0.46275	0.51	T	0.47497	-0.9113	8	0.87932	D	0	.	.	.	.	.	287	P35125	UBP6_HUMAN	M	287	ENSP00000328010:V287M;ENSP00000250066:V287M	ENSP00000250066:V287M	V	+	1	0	USP6	4981703	1.000000	0.71417	0.269000	0.24586	0.272000	0.26649	1.918000	0.40006	0.119000	0.18210	0.121000	0.15741	GTG	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438990.1		+	ENST00000574788.1	Missense_Mutation	SNP	17 : 5040979 - 5040979 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1223	197
AFAP1L2	84632	broad.mit.edu	37	10	116092980	116092980	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116092980C>A	ENST00000369271.3	-	3	520	c.220G>T	c.(220-222)Gcg>Tcg	p.A74S	AFAP1L2_ENST00000545353.1_Splice_Site_p.A74S|AFAP1L2_ENST00000304129.4_Splice_Site_p.A74S	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	74					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		AGCCTCATACCTTTGCCTTGA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													335	248	277			NA	NA	10		NA											NA				116092980		2203	4300	6503	SO:0001630	splice_region_variant			BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129	84632	84632		Pleckstrin homology (PH) domain containing	25901	protein-coding gene	gene with protein product		612420	KIAA1914	KIAA1914	NA	11572484, 17412687	Standard	NM_032550	XM_005270239	NA	Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000369271.3:c.220+1G>T	10.37:g.116092980C>A		NA	A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	37	CCDS31287.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746237	0.30955	.	.	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000541919;ENST00000545353;ENST00000419268	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.37	5.37	0.77165	.	2.007730	0.01932	N	0.041313	T	0.44180	0.1281	N	0.25647	0.755	0.28073	N	0.932482	B;B;B;B;B	0.19583	0.018;0.01;0.026;0.037;0.022	B;B;B;B;B	0.17722	0.017;0.005;0.019;0.008;0.004	T	0.34229	-0.9837	9	.	.	.	-2.2251	16.4023	0.83644	0.0:1.0:0.0:0.0	.	74;74;74;74;74	F5GZE1;B7Z2Q0;Q8N4X5-4;Q8N4X5-2;Q8N4X5	.;.;.;.;AF1L2_HUMAN	S	74;74;73;92;74;92	ENSP00000358276:A74S;ENSP00000303042:A74S;ENSP00000444511:A74S;ENSP00000396781:A92S	.	A	-	1	0	AFAP1L2	116082970	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	4.681000	0.61663	2.673000	0.90976	0.655000	0.94253	GCG	AFAP1L2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050461.1	Missense_Mutation	-	ENST00000369271.3	Splice_Site	SNP	10 : 116092980 - 116092980 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	534	96
DOCK4	9732	broad.mit.edu	37	7	111381614	111381614	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111381614C>A	ENST00000428084.1	-	46	5173	c.4901G>T	c.(4900-4902)aGg>aTg	p.R1634M	DOCK4_ENST00000437633.1_Missense_Mutation_p.R1625M|DOCK4_ENST00000494651.2_Missense_Mutation_p.R508M			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1625					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AGGAATTACCCTGGTACCATC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	69	70			NA	NA	7		NA											NA				111381614		1887	4123	6010	SO:0001583	missense				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512	9732	9732			19192	protein-coding gene	gene with protein product		607679			NA	12432077, 12628187	Standard	NM_014705	XM_006716188	NA	Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000428084.1:c.4901G>T	7.37:g.111381614C>A	ENSP00000410746:p.Arg1634Met	NA	O14584|O94824|Q8NB45	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.66|19.66	3.869810|3.869810	0.72065|0.72065	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000423057;ENST00000445943|ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288	.|T;T;T	.|0.08370	.|3.9;3.1;3.89	5.24|5.24	4.36|4.36	0.52297|0.52297	.|.	.|0.143180	.|0.64402	.|D	.|0.000010	T|T	0.21468|0.21468	0.0517|0.0517	L|L	0.47716|0.47716	1.5|1.5	0.53688|0.53688	D|D	0.999972|0.999972	.|D;D;D;D;D	.|0.76494	.|0.995;0.997;0.999;0.999;0.997	.|D;D;D;D;D	.|0.71414	.|0.922;0.973;0.96;0.96;0.973	T|T	0.00677|0.00677	-1.1614|-1.1614	5|10	.|0.72032	.|D	.|0.01	.|.	14.0431|14.0431	0.64689|0.64689	0.0:0.9275:0.0:0.0724|0.0:0.9275:0.0:0.0724	.|.	.|532;508;1670;1625;1634	.|B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2	.|.;.;.;DOCK4_HUMAN;.	W|M	1086;1658|1613;1634;508;1625;1622	.|ENSP00000410746:R1634M;ENSP00000440944:R508M;ENSP00000404179:R1625M	.|ENSP00000345432:R1622M	G|R	-|-	1|2	0|0	DOCK4|DOCK4	111168850|111168850	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.359000|5.359000	0.66074|0.66074	1.435000|1.435000	0.47434|0.47434	0.655000|0.655000	0.94253|0.94253	GGG|AGG	DOCK4-005	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000338943.2		-	ENST00000428084.1	Missense_Mutation	SNP	7 : 111381614 - 111381614 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	112	8
DZIP3	9666	broad.mit.edu	37	3	108366893	108366893	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108366893A>C	ENST00000361582.3	+	16	2126	c.1896A>C	c.(1894-1896)gaA>gaC	p.E632D	DZIP3_ENST00000463306.1_Missense_Mutation_p.E632D	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	632					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AGTTTGCAGAAATTAATAAAG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	110	108			NA	NA	3		NA											NA				108366893		2203	4299	6502	SO:0001583	missense			AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919	9666	9666		RING-type (C3HC4) zinc fingers, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	30938	protein-coding gene	gene with protein product	human RNA-binding ubiquitin ligase of 138 kDa, protein phosphatase 1, regulatory subunit 66	608672	DAZ interacting protein 3, zinc finger		NA	9734811, 12538761	Standard	NM_014648	NM_014648	NA	Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.1896A>C	3.37:g.108366893A>C	ENSP00000355028:p.Glu632Asp	NA	B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	37	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.380981	0.61845	.	.	ENSG00000198919	ENST00000361582;ENST00000479138;ENST00000463306	T;T;T	0.33216	1.42;1.42;1.42	5.09	3.89	0.44902	.	0.000000	0.64402	D	0.000020	T	0.42787	0.1218	L	0.47716	1.5	0.29496	N	0.855292	D;D;D	0.67145	0.984;0.996;0.993	D;D;D	0.75484	0.956;0.986;0.967	T	0.27806	-1.0063	10	0.36615	T	0.2	-17.6589	7.8465	0.29428	0.9054:0.0:0.0946:0.0	.	250;632;632	D3DN61;C9J9M8;Q86Y13	.;.;DZIP3_HUMAN	D	632	ENSP00000355028:E632D;ENSP00000418115:E632D;ENSP00000419981:E632D	ENSP00000355028:E632D	E	+	3	2	DZIP3	109849583	0.999000	0.42202	1.000000	0.80357	0.721000	0.41392	0.708000	0.25719	0.919000	0.36945	0.524000	0.50904	GAA	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353968.1		+	ENST00000361582.3	Missense_Mutation	SNP	3 : 108366893 - 108366893 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	562	109
NYNRIN	57523	broad.mit.edu	37	14	24884117	24884117	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24884117C>T	ENST00000382554.3	+	9	3480	c.3162C>T	c.(3160-3162)atC>atT	p.I1054I		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1054					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCCTGGACATCGACCTCCTGC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	92	87			NA	NA	14		NA											NA				24884117		2068	4200	6268	SO:0001819	synonymous_variant			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978	57523	57523			20165	protein-coding gene	gene with protein product	Cousin of GIN1		KIAA1305	KIAA1305	NA	19561090, 17114934	Standard		NM_025081	NA	Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.3162C>T	14.37:g.24884117C>T		NA	Q6P153|Q86TR3|Q9HAC4	37	CCDS45090.1																																																																																			NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412939.1		+	ENST00000382554.3	Silent	SNP	14 : 24884117 - 24884117 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	496	85
QRICH1	54870	broad.mit.edu	37	3	49084009	49084009	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49084009C>T	ENST00000395443.2	-	5	1992	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H	QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_Missense_Mutation_p.R507H|QRICH1_ENST00000424300.1_Missense_Mutation_p.R507H	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	507										breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CAGCAGTTGGCGCCCTGCAAC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	57	59			NA	NA	3		NA											NA				49084009		2203	4300	6503	SO:0001583	missense				CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218	54870	54870			24713	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_017730	NM_017730	NA	Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1520G>A	3.37:g.49084009C>T	ENSP00000378830:p.Arg507His	NA	Q4G0F7|Q7L621|Q8TEA5	37	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	C	35	5.518919	0.96416	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.78704	0.4325	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.78607	-0.2138	9	0.66056	D	0.02	-2.5307	20.1663	0.98152	0.0:1.0:0.0:0.0	.	507	Q2TAL8	QRIC1_HUMAN	H	507	.	ENSP00000350094:R507H	R	-	2	0	QRICH1	49059013	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	7.209000	0.77916	2.773000	0.95371	0.585000	0.79938	CGC	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345669.1		-	ENST00000395443.2	Missense_Mutation	SNP	3 : 49084009 - 49084009 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	336	55
NCOA5	57727	broad.mit.edu	37	20	44692047	44692047	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44692047G>A	ENST00000290231.6	-	7	1266	c.1102C>T	c.(1102-1104)Cga>Tga	p.R368*		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	368					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TTCCGCTCTCGCAGGTAGTTG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	66	68			NA	NA	20		NA											NA				44692047		2203	4300	6503	SO:0001587	stop_gained				CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160	57727	57727			15909	protein-coding gene	gene with protein product	coactivator independent of AF-2				NA	11780052, 11113208	Standard	NM_020967	XM_005260474	NA	Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.1102C>T	20.37:g.44692047G>A	ENSP00000290231:p.Arg368*	NA	B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	37	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	G	35	5.534672	0.96460	.	.	ENSG00000124160	ENST00000290231	.	.	.	5.41	5.41	0.78517	.	0.102256	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.982	13.8224	0.63331	0.0:0.0:0.8372:0.1628	.	.	.	.	X	368	.	ENSP00000290231:R368X	R	-	1	2	NCOA5	44125454	0.995000	0.38212	1.000000	0.80357	0.992000	0.81027	2.055000	0.41345	2.816000	0.96949	0.561000	0.74099	CGA	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079559.1		-	ENST00000290231.6	Nonsense_Mutation	SNP	20 : 44692047 - 44692047 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	304	13
PHIP	55023	broad.mit.edu	37	6	79692681	79692681	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79692681C>T	ENST00000275034.4	-	23	2858	c.2691G>A	c.(2689-2691)aaG>aaA	p.K897K		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	897	Lys-rich.				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ttttcttttcctttttaatct	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	66	68			NA	NA	6		NA											NA				79692681		2203	4299	6502	SO:0001819	synonymous_variant			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247	55023	55023		WD repeat domain containing, DDB1 and CUL4 associated factors	15673	protein-coding gene	gene with protein product	DDB1 and CUL4 associated factor 14	612870		WDR11	NA	11018022	Standard		NM_017934	NA	Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.2691G>A	6.37:g.79692681C>T		NA	B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	37	CCDS4987.1																																																																																			PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041297.2		-	ENST00000275034.4	Silent	SNP	6 : 79692681 - 79692681 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	188	27
MRPL1	65008	broad.mit.edu	37	4	78808417	78808417	+	Missense_Mutation	SNP	T	T	C	rs17855456		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78808417T>C	ENST00000315567.8	+	5	859	c.530T>C	c.(529-531)tTt>tCt	p.F177S	MRPL1_ENST00000506674.1_3'UTR	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	177			F -> S (in dbSNP:rs17855456).				RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						GGAGCTGCATTTGCAGGAGGC	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	124	125			NA	NA	4		NA											NA				78808417		2203	4300	6503	SO:0001583	missense			AB049474	CCDS3583.2	4q21.1	2012-09-13			ENSG00000169288	ENSG00000169288	65008	65008		Mitochondrial ribosomal proteins / large subunits	14275	protein-coding gene	gene with protein product		611821			NA		Standard	NM_020236	NM_020236	NA	Approved	BM022	uc003hku.2	Q9BYD6	OTTHUMG00000130200	ENST00000315567.8:c.530T>C	4.37:g.78808417T>C	ENSP00000315017:p.Phe177Ser	NA	A6NG03|Q4W5B8|Q6IAG4|Q96BW3|Q9H793|Q9NRL5	37	CCDS3583.2	.	.	.	.	.	.	.	.	.	.	T	21.3	4.123426	0.77436	.	.	ENSG00000169288	ENST00000315567;ENST00000538314	T	0.44881	0.91	5.96	3.51	0.40186	Ribosomal protein L1, 3-layer alpha/beta-sandwich (1);Ribosomal protein L1, superfamily (1);	0.356101	0.33670	N	0.004665	T	0.48624	0.1510	M	0.74881	2.28	0.36811	D	0.885884	P;P	0.46457	0.673;0.878	B;P	0.49683	0.393;0.619	T	0.54957	-0.8215	10	0.59425	D	0.04	-11.0467	6.1015	0.20049	0.1439:0.0769:0.0:0.7792	rs17855456;rs17855456	155;177	A0PJ79;Q9BYD6	.;RM01_HUMAN	S	177;155	ENSP00000315017:F177S	ENSP00000315017:F177S	F	+	2	0	MRPL1	79027441	1.000000	0.71417	0.875000	0.34327	0.978000	0.69477	4.046000	0.57376	0.498000	0.27948	0.528000	0.53228	TTT	MRPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252518.3		+	ENST00000315567.8	Missense_Mutation	SNP	4 : 78808417 - 78808417 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	429	74
COL4A5	1287	broad.mit.edu	37	X	107936017	107936017	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107936017C>A	ENST00000328300.6	+	50	4812	c.4568C>A	c.(4567-4569)cCt>cAt	p.P1523H	COL4A5_ENST00000361603.2_Missense_Mutation_p.P1517H	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1517	Collagen IV NC1.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGTACCATGCCTTTCATGTTC	0.438		NA							Alport syndrome with Diffuse Leiomyomatosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	99	109			NA	NA	X		NA											NA				107936017		2203	4300	6503	SO:0001583	missense	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153	1287	1287		Collagens	2207	protein-coding gene	gene with protein product		303630	Alport syndrome	ASLN, ATS	NA		Standard		NM_000495	NA	Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000328300.6:c.4568C>A	X.37:g.107936017C>A	ENSP00000331902:p.Pro1523His	NA	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	37	CCDS35366.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821469	0.90873	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.95069	-3.6;-3.6	5.82	5.82	0.92795	C-type lectin fold (1);	0.000000	0.85682	D	0.000000	D	0.98598	0.9531	H	0.98407	4.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99632	1.0986	10	0.87932	D	0	.	19.0941	0.93242	0.0:1.0:0.0:0.0	.	1520;1517	E7EVY4;P29400	.;CO4A5_HUMAN	H	1523;1517;1523	ENSP00000331902:P1523H;ENSP00000354505:P1517H	ENSP00000331902:P1523H	P	+	2	0	COL4A5	107822673	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.459000	0.83118	0.594000	0.82650	CCT	COL4A5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360023.1		+	ENST00000328300.6	Missense_Mutation	SNP	X : 107936017 - 107936017 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	276	75
MYH8	4626	broad.mit.edu	37	17	10323446	10323446	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10323446C>T	ENST00000403437.2	-	3	193	c.99G>A	c.(97-99)ccG>ccA	p.P33P	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	33	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TAGCATCAAACGGCTTGTTTT	0.483		NA							Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													229	218	222			NA	NA	17		NA											NA				10323446		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020	4626	4626		Myosins / Myosin superfamily : Class II	7578	protein-coding gene	gene with protein product		160741	myosin, heavy polypeptide 8, skeletal muscle, perinatal		NA	2373371	Standard	NM_002472	NM_002472	NA	Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.99G>A	17.37:g.10323446C>T		NA	Q14910	37	CCDS11153.1																																																																																			MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252724.2		-	ENST00000403437.2	Silent	SNP	17 : 10323446 - 10323446 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	980	214
GCN1L1	10985	broad.mit.edu	37	12	120599349	120599349	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120599349C>T	ENST00000300648.6	-	22	2393	c.2381G>A	c.(2380-2382)cGa>cAa	p.R794Q		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	794					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTGTTCTCTCGCTTCATGTT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													236	231	233			NA	NA	12		NA											NA				120599349		2116	4240	6356	SO:0001583	missense			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28				10985	10985			4199	protein-coding gene	gene with protein product		605614	GCN1 (general control of amino-acid synthesis 1, yeast)-like 1		NA	9234705	Standard		NM_006836	NA	Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.2381G>A	12.37:g.120599349C>T	ENSP00000300648:p.Arg794Gln	NA	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	37	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	C	36	5.843875	0.97016	.	.	ENSG00000089154	ENST00000300648	T	0.51071	0.72	5.82	5.82	0.92795	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70945	0.3282	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.68762	-0.5323	10	0.41790	T	0.15	.	20.0953	0.97838	0.0:1.0:0.0:0.0	.	794	Q92616	GCN1L_HUMAN	Q	794	ENSP00000300648:R794Q	ENSP00000300648:R794Q	R	-	2	0	GCN1L1	119083732	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.232000	0.78116	2.767000	0.95098	0.655000	0.94253	CGA	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403592.1		-	ENST00000300648.6	Missense_Mutation	SNP	12 : 120599349 - 120599349 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	593	121
OSBPL11	114885	broad.mit.edu	37	3	125266388	125266388	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125266388G>T	ENST00000296220.5	-	10	1992	c.1703C>A	c.(1702-1704)cCc>cAc	p.P568H		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	568					lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						ATATGCACAGGGTAGAGAAAA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	112	116			NA	NA	3		NA											NA				125266388		2203	4300	6503	SO:0001583	missense			AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909	114885	114885		Oxysterol binding proteins, Pleckstrin homology (PH) domain containing	16397	protein-coding gene	gene with protein product		606739			NA		Standard	NM_022776	NM_022776	NA	Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.1703C>A	3.37:g.125266388G>T	ENSP00000296220:p.Pro568His	NA	A8K9I7	37	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563636	0.86335	.	.	ENSG00000144909	ENST00000296220	T	0.45668	0.89	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.74183	0.3683	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82238	-0.0556	10	0.87932	D	0	-14.7118	18.1718	0.89747	0.0:0.0:1.0:0.0	.	568	Q9BXB4	OSB11_HUMAN	H	568	ENSP00000296220:P568H	ENSP00000296220:P568H	P	-	2	0	OSBPL11	126749078	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.318000	0.96334	2.524000	0.85096	0.467000	0.42956	CCC	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356295.1		-	ENST00000296220.5	Missense_Mutation	SNP	3 : 125266388 - 125266388 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	443	72
MTHFR	4524	broad.mit.edu	37	1	11863151	11863151	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11863151T>C	ENST00000376592.1	-	1	151	c.23A>G	c.(22-24)aAc>aGc	p.N8S	MTHFR_ENST00000376590.3_Missense_Mutation_p.N8S|MTHFR_ENST00000376585.1_Missense_Mutation_p.N49S|MTHFR_ENST00000376583.3_Missense_Mutation_p.N49S			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	8					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GAGGCTGCTGTTTCCTCTGGC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	51	57			NA	NA	1		NA											NA				11863151		2203	4300	6503	SO:0001583	missense			BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	4524	4524	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	5,10-methylenetetrahydrofolate reductase (NADPH)		NA	7920641	Standard	NM_005957	NM_005957	NA	Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.23A>G	1.37:g.11863151T>C	ENSP00000365777:p.Asn8Ser	NA	B2R7A6|Q5SNW9|Q7Z6M6|Q9UQR2	37	CCDS137.1	.	.	.	.	.	.	.	.	.	.	T	2.368	-0.344945	0.05208	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585;ENST00000418034;ENST00000413656;ENST00000423400;ENST00000431243;ENST00000376486	T;T;T;T;T	0.81163	-1.45;-1.46;-1.45;-1.46;-1.28	4.65	-5.71	0.02413	.	0.791526	0.11932	N	0.515610	T	0.40546	0.1121	N	0.00347	-1.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44267	-0.9339	10	0.87932	D	0	.	4.1016	0.10015	0.0988:0.4522:0.2167:0.2323	.	8;49	P42898;Q5SNW6	MTHR_HUMAN;.	S	8;49;8;49;8;8;31;8;8	ENSP00000365777:N8S;ENSP00000365767:N49S;ENSP00000365775:N8S;ENSP00000365770:N49S;ENSP00000405082:N8S	ENSP00000365669:N8S	N	-	2	0	MTHFR	11785738	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.301000	0.08232	-1.019000	0.03358	-1.295000	0.01343	AAC	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006538.1		-	ENST00000376592.1	Missense_Mutation	SNP	1 : 11863151 - 11863151 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	76	10
TTN	7273	broad.mit.edu	37	2	179396193	179396193	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179396193C>A	ENST00000589042.1	-	358	105373	c.105149G>T	c.(105148-105150)aGa>aTa	p.R35050I	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R33409I|TTN_ENST00000359218.5_Missense_Mutation_p.R26110I|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R26177I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R32482I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R25985I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33409							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAAACAGATCTGGGGACCTC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	123	124			NA	NA	2		NA											NA				179396193		1924	4139	6063	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.105149G>T	2.37:g.179396193C>A	ENSP00000467141:p.Arg35050Ile	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.129850	0.37630	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63255	-0.03;0.2;0.17;0.22	5.45	2.63	0.31362	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.44095	0.1277	N	0.19112	0.55	0.36256	D	0.854247	B;B;B;B	0.18166	0.026;0.026;0.026;0.026	B;B;B;B	0.22386	0.015;0.015;0.029;0.039	T	0.41124	-0.9526	9	0.87932	D	0	.	5.9207	0.19080	0.0:0.6427:0.1392:0.2181	.	25985;26110;26177;33409	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	32482;25985;26177;26110;25982	ENSP00000343764:R32482I;ENSP00000434586:R25985I;ENSP00000340554:R26177I;ENSP00000352154:R26110I	ENSP00000340554:R26177I	R	-	2	0	TTN	179104439	0.568000	0.26635	0.800000	0.32199	0.836000	0.47400	0.994000	0.29693	0.253000	0.21552	0.650000	0.86243	AGA	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179396193 - 179396193 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	485	118
ZNF791	163049	broad.mit.edu	37	19	12739034	12739034	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12739034A>T	ENST00000446165.1	+	0	792				ZNF791_ENST00000540038.1_Missense_Mutation_p.I122F|ZNF791_ENST00000343325.4_Missense_Mutation_p.I231F|ZNF791_ENST00000458122.3_Missense_Mutation_p.I199F|ZNF490_ENST00000465656.1_Intron			Q3KP31	ZN791_HUMAN	zinc finger protein 791	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						TTCCAGTTCTATTCGAGTACA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	58	59			NA	NA	19		NA											NA				12739034		2203	4300	6503	SO:0001624	3_prime_UTR_variant			AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875	163049	163049		Zinc fingers, C2H2-type, -	26895	protein-coding gene	gene with protein product					NA		Standard	NM_153358	NM_153358	NA	Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000446165.1:c.*420A>T	19.37:g.12739034A>T		NA	Q8NC99	37		.	.	.	.	.	.	.	.	.	.	A	6.249	0.413989	0.11870	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122;ENST00000540038	T;T;T	0.08282	3.11;3.11;3.11	1.83	0.603	0.17541	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03178	0.0093	N	0.03294	-0.36	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.42766	-0.9432	9	0.40728	T	0.16	.	2.4812	0.04587	0.3467:0.4553:0.0:0.198	.	231	Q3KP31	ZN791_HUMAN	F	231;213;199;122	ENSP00000342974:I231F;ENSP00000441761:I199F;ENSP00000441038:I122F	ENSP00000342974:I231F	I	+	1	0	ZNF791	12600034	0.004000	0.15560	0.980000	0.43619	0.804000	0.45430	0.000000	0.12993	0.036000	0.15547	0.402000	0.26972	ATT	ZNF791-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000344141.1		+	ENST00000446165.1	3'UTR	SNP	19 : 12739034 - 12739034 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	65
KMT2D	8085	broad.mit.edu	37	12	49416497	49416497	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49416497C>T	ENST00000301067.7	-	51	16213	c.16214G>A	c.(16213-16215)cGt>cAt	p.R5405H		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D	NA											NA						GCCCTGGATACGGGAGCGAGC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	132	129			NA	NA	12		NA											NA				49416497		2040	4182	6222	SO:0001583	missense			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.16214G>A	12.37:g.49416497C>T	ENSP00000301067:p.Arg5405His	NA		37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.901571	0.52227	.	.	ENSG00000167548	ENST00000301067;ENST00000526209	D;D	0.86432	-2.12;-2.12	5.09	5.09	0.68999	SET domain (2);	0.000000	0.36167	N	0.002742	D	0.92753	0.7696	M	0.67625	2.065	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93407	0.6765	10	0.87932	D	0	.	17.6392	0.88130	0.0:1.0:0.0:0.0	.	5405	O14686	MLL2_HUMAN	H	5405;86	ENSP00000301067:R5405H;ENSP00000435714:R86H	ENSP00000301067:R5405H	R	-	2	0	MLL2	47702764	1.000000	0.71417	0.994000	0.49952	0.952000	0.60782	5.980000	0.70516	2.546000	0.85860	0.591000	0.81541	CGT	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390183.2		-	ENST00000301067.7	Missense_Mutation	SNP	12 : 49416497 - 49416497 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	566	115
SPTBN4	57731	broad.mit.edu	37	19	41063119	41063119	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41063119C>A	ENST00000352632.3	+	26	5566	c.5480C>A	c.(5479-5481)gCc>gAc	p.A1827D	SPTBN4_ENST00000338932.3_Missense_Mutation_p.A1827D|SPTBN4_ENST00000392023.1_Missense_Mutation_p.A503D|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A1827D|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A1827D|SPTBN4_ENST00000392025.1_Missense_Mutation_p.A570D			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1827					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGCACACGGGCCCAGCTGCTG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	28	27			NA	NA	19		NA											NA				41063119		2203	4298	6501	SO:0001583	missense			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460	57731	57731		Pleckstrin homology (PH) domain containing	14896	protein-coding gene	gene with protein product		606214			NA	11086001	Standard		NM_020971	NA	Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5480C>A	19.37:g.41063119C>A	ENSP00000263373:p.Ala1827Asp	NA	Q9H1K7|Q9H1K8|Q9H1K9|Q9H3G8|Q9HCD0	37	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.773259	0.69992	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	3.63	3.63	0.41609	.	0.090141	0.42172	D	0.000757	T	0.53769	0.1817	L	0.40543	1.245	0.38408	D	0.94585	D;D;D;P	0.71674	0.979;0.957;0.998;0.949	P;P;D;P	0.66497	0.815;0.693;0.944;0.83	T	0.49916	-0.8888	10	0.13470	T	0.59	.	14.5979	0.68419	0.0:1.0:0.0:0.0	.	570;503;1827;1827	C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;SPTN4_HUMAN;.	D	1827;1827;1827;570;503	ENSP00000263373:A1827D;ENSP00000340345:A1827D;ENSP00000375879:A570D;ENSP00000375877:A503D	ENSP00000340345:A1827D	A	+	2	0	SPTBN4	45754959	0.002000	0.14202	0.999000	0.59377	0.989000	0.77384	1.157000	0.31724	2.036000	0.60181	0.455000	0.32223	GCC	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462559.2		+	ENST00000352632.3	Missense_Mutation	SNP	19 : 41063119 - 41063119 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	306	66
SAMD4B	55095	broad.mit.edu	37	19	39847484	39847484	+	Translation_Start_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39847484G>A	ENST00000314471.6	+	0	986				SAMD4B_ENST00000598913.1_De_novo_Start_OutOfFrame|SAMD4B_ENST00000596368.1_De_novo_Start_OutOfFrame|SAMD4B_ENST00000594204.1_3'UTR	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	NA							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ATGTGACGGCGCTGGCCCTCG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	14	15			NA	NA	19		NA											NA				39847484		2199	4290	6489						CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134	55095	55095		Sterile alpha motif (SAM) domain containing	25492	protein-coding gene	gene with protein product	smaug homolog B (Drosophila)				NA	16221671	Standard	NM_018028	XM_005259029	NA	Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.-50G>A	19.37:g.39847484G>A		NA	Q6P194	37	CCDS33020.1																																																																																			SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464467.1		+	ENST00000314471.6	De_novo_Start_OutOfFrame	SNP	19 : 39847484 - 39847484 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	84	14
PEX3	8504	broad.mit.edu	37	6	143780343	143780343	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143780343C>T	ENST00000367591.4	+	2	258	c.195C>T	c.(193-195)tgC>tgT	p.C65C		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	65					protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		AGAGGACTTGCAATATGACAG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	115	116			NA	NA	6		NA											NA				143780343		2203	4300	6503	SO:0001819	synonymous_variant			AJ001625	CCDS5199.1	6q24.2	2008-05-15			ENSG00000034693	ENSG00000034693	8504	8504			8858	protein-coding gene	gene with protein product		603164			NA	9657383	Standard		NM_003630	NA	Approved		uc003qjl.3	P56589	OTTHUMG00000015730	ENST00000367591.4:c.195C>T	6.37:g.143780343C>T		NA		37	CCDS5199.1																																																																																			PEX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042525.1		+	ENST00000367591.4	Silent	SNP	6 : 143780343 - 143780343 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	705	146
MICAL2	9645	broad.mit.edu	37	11	12264276	12264276	+	Missense_Mutation	SNP	C	C	T	rs146142372		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:12264276C>T	ENST00000256194.4	+	20	2903	c.2615C>T	c.(2614-2616)gCg>gTg	p.A872V	MICAL2_ENST00000527546.1_Intron|MICAL2_ENST00000342902.5_Missense_Mutation_p.A872V|MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000379612.3_Intron	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	872						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AAGGAGAAGGCGGCTCACCTT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	VAL/ALA	0,4402		0,0,2201	117	117	117		2615	6.1	1	11	dbSNP_134	117	1,8587	1.2+/-3.3	0,1,4293	no	missense	MICAL2	NM_014632.2	64	0,1,6494	TT,TC,CC	NA	0.0116,0.0,0.0077	benign	872/1125	12264276	1,12989	2201	4294	6495	SO:0001583	missense			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816	9645	9645			24693	protein-coding gene	gene with protein product		608881			NA	12110185	Standard	NM_014632	XM_005253249	NA	Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.2615C>T	11.37:g.12264276C>T	ENSP00000256194:p.Ala872Val	NA	D3DQW5|Q7Z3A8	37	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	C	32	5.165018	0.94727	0.0	1.16E-4	ENSG00000133816	ENST00000256194;ENST00000342902	T;T	0.68903	-0.33;-0.36	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000007	T	0.75664	0.3880	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.962	T	0.75147	-0.3420	10	0.52906	T	0.07	.	20.239	0.98366	0.0:1.0:0.0:0.0	.	872;872	G3XAC8;O94851	.;MICA2_HUMAN	V	872	ENSP00000256194:A872V;ENSP00000344894:A872V	ENSP00000256194:A872V	A	+	2	0	MICAL2	12220852	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	5.311000	0.65786	2.884000	0.98904	0.655000	0.94253	GCG	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385993.1		+	ENST00000256194.4	Missense_Mutation	SNP	11 : 12264276 - 12264276 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	534	47
SIPA1L1	26037	broad.mit.edu	37	14	72152161	72152161	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:72152161C>T	ENST00000358550.2	+	10	4137	c.3187C>T	c.(3187-3189)Cga>Tga	p.R1063*	SIPA1L1_ENST00000555818.1_Nonsense_Mutation_p.R1063*|SIPA1L1_ENST00000537413.1_Nonsense_Mutation_p.R538*|SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.R1063*	NM_001284246.1	NP_001271175.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1063					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GTTTCCCTTCCGAAATAATAA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	101	102			NA	NA	14		NA											NA				72152161		2203	4300	6503	SO:0001587	stop_gained			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555	26037	26037			20284	protein-coding gene	gene with protein product					NA	9858596	Standard	NM_015556	XM_005267514	NA	Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000358550.2:c.3187C>T	14.37:g.72152161C>T	ENSP00000351352:p.Arg1063*	NA	O95321|Q9UDU4|Q9UNU4	37		.	.	.	.	.	.	.	.	.	.	C	41	8.980838	0.99025	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	.	.	.	5.48	5.48	0.80851	.	0.057524	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.3747	12.7979	0.57569	0.2704:0.7296:0.0:0.0	.	.	.	.	X	1063;1063;1063;538	.	ENSP00000351352:R1063X	R	+	1	2	SIPA1L1	71221914	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.388000	0.34442	2.726000	0.93360	0.561000	0.74099	CGA	SIPA1L1-001	NOVEL	NAGNAG_splice_site|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000412807.1		+	ENST00000358550.2	Nonsense_Mutation	SNP	14 : 72152161 - 72152161 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	599	110
NAGLU	4669	broad.mit.edu	37	17	40695695	40695695	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40695695C>A	ENST00000225927.2	+	6	1772	c.1671C>A	c.(1669-1671)cgC>cgA	p.R557R	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	557						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CCGCCTTCCGCTACGACCTGC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	26	27			NA	NA	17		NA											NA				40695695		2198	4288	6486	SO:0001819	synonymous_variant				CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	4669	4669	3.2.1.50		7632	protein-coding gene	gene with protein product	Sanfilippo disease IIIB	609701			NA		Standard	NM_000263	XM_006721920	NA	Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.1671C>A	17.37:g.40695695C>A		NA		37	CCDS11427.1																																																																																			NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450385.1		+	ENST00000225927.2	Silent	SNP	17 : 40695695 - 40695695 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	217	16
FGD5	152273	broad.mit.edu	37	3	14862336	14862336	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14862336G>A	ENST00000285046.5	+	1	1868	c.1758G>A	c.(1756-1758)tcG>tcA	p.S586S	FGD5_ENST00000543601.1_Silent_p.S345S	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	586					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TCTCTCTGTCGTGTGTAATTG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	49	48			NA	NA	3		NA											NA				14862336		1976	4155	6131	SO:0001819	synonymous_variant			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783	152273	152273		Zinc fingers, FYVE domain containing, Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	19117	protein-coding gene	gene with protein product		614788			NA		Standard	NM_152536	NM_152536	NA	Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1758G>A	3.37:g.14862336G>A		NA	B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	37	CCDS46767.1																																																																																			FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340628.1		+	ENST00000285046.5	Silent	SNP	3 : 14862336 - 14862336 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	373	73
NUSAP1	51203	broad.mit.edu	37	15	41657701	41657701	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41657701G>A	ENST00000450592.2	+	6	777	c.690G>A	c.(688-690)cgG>cgA	p.R230R	NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000559596.1_Silent_p.R254R|NUSAP1_ENST00000560177.1_Silent_p.R253R|NUSAP1_ENST00000260359.6_Silent_p.R239R|NUSAP1_ENST00000560747.1_Silent_p.R252R|NUSAP1_ENST00000450318.1_Silent_p.R254R|NUSAP1_ENST00000414849.2_Silent_p.R253R			Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	254					cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		CGCAAGGCCGGTCTTGTGGCC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	35	35			NA	NA	15		NA											NA				41657701		1897	4138	6035	SO:0001819	synonymous_variant			AF290612	CCDS45234.1, CCDS45236.1, CCDS58356.1, CCDS58357.1, CCDS58358.1, CCDS73708.1	15q14	2008-02-05				ENSG00000137804	51203	51203			18538	protein-coding gene	gene with protein product		612818			NA	12963707	Standard	NM_016359	NM_016359	NA	Approved	FLJ13421, LNP, ANKT, NuSAP1, SAPL, BM037, PRO0310p1, Q0310	uc001zns.4	Q9BXS6		ENST00000450592.2:c.690G>A	15.37:g.41657701G>A		NA	Q53GW2|Q8TBT4|Q96E58|Q96FJ1|Q9GZM9|Q9NZ85|Q9UI70	37	CCDS58358.1																																																																																			NUSAP1-005	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419426.1		+	ENST00000450592.2	Silent	SNP	15 : 41657701 - 41657701 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	133	24
EYA1	2138	broad.mit.edu	37	8	72128969	72128969	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72128969G>A	ENST00000340726.3	-	14	1957	c.1318C>T	c.(1318-1320)Cgg>Tgg	p.R440W	EYA1_ENST00000388742.4_Missense_Mutation_p.R440W|EYA1_ENST00000388741.2_Missense_Mutation_p.R406W|EYA1_ENST00000419131.1_Missense_Mutation_p.R405W|EYA1_ENST00000303824.7_Missense_Mutation_p.R434W|EYA1_ENST00000388740.3_Missense_Mutation_p.R407W|EYA1_ENST00000388743.2_Missense_Mutation_p.R439W	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	440			R -> Q (in BOR1).		double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TCTTTTACCCGTCTGTAGCGG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	196	171	179		1318,1318,1213,1219	4.5	1	8		179	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense	EYA1	NM_000503.4,NM_172058.2,NM_172059.2,NM_172060.2	101,101,101,101	0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	440/593,440/593,405/558,407/560	72128969	2,13004	2203	4300	6503	SO:0001583	missense			AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313	2138	2138		Protein tyrosine phosphatases / Asp-based PTPs	3519	protein-coding gene	gene with protein product		601653	eyes absent (Drosophila) homolog 1, eyes absent homolog 1 (Drosophila)	BOR	NA	9020840	Standard	NM_000503, NM_172060	XM_005251184	NA	Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1318C>T	8.37:g.72128969G>A	ENSP00000342626:p.Arg440Trp	NA	A6NHQ0|Q0P516	37	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916777	0.73098	0.0	2.33E-4	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.44	4.53	0.55603	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.90477	0.7017	M	0.79805	2.47	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79108	0.967;0.988;0.991;0.967;0.992	D	0.91073	0.4894	10	0.87932	D	0	-12.6378	13.5438	0.61690	0.0:0.0:0.7247:0.2753	.	434;367;407;440;405	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	W	440;440;408;407;434;406;439;405	ENSP00000373394:R440W;ENSP00000342626:R440W;ENSP00000373392:R407W;ENSP00000303221:R434W;ENSP00000373393:R406W;ENSP00000373395:R439W;ENSP00000410176:R405W	ENSP00000303221:R434W	R	-	1	2	EYA1	72291523	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.373000	0.59537	2.832000	0.97577	0.655000	0.94253	CGG	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313788.2		-	ENST00000340726.3	Missense_Mutation	SNP	8 : 72128969 - 72128969 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	556	113
FLYWCH1	84256	broad.mit.edu	37	16	2983257	2983257	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2983257C>T	ENST00000253928.9	+	5	1328	c.923C>T	c.(922-924)gCg>gTg	p.A308V	FLYWCH1_ENST00000416288.2_Missense_Mutation_p.A307V|FLYWCH1_ENST00000399667.2_Missense_Mutation_p.A308V			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	308						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						CGGGACCACGCGCTGCACGGC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	VAL/ALA,VAL/ALA	0,4200		0,0,2100	21	25	24		920,920	1.2	0	16		24	1,8409		0,1,4204	no	missense,missense	FLYWCH1	NM_020912.1,NM_032296.2	64,64	0,1,6304	TT,TC,CC	NA	0.0119,0.0,0.0079	possibly-damaging,possibly-damaging	307/704,307/716	2983257	1,12609	2100	4205	6305	SO:0001583	missense			AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122	84256	84256		Zinc fingers	25404	protein-coding gene	gene with protein product					NA	11230166, 10997877	Standard	NM_032296	XM_006720959	NA	Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.923C>T	16.37:g.2983257C>T	ENSP00000253928:p.Ala308Val	NA	D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	37		.	.	.	.	.	.	.	.	.	.	C	5.962	0.361467	0.11296	0.0	1.19E-4	ENSG00000059122	ENST00000399667;ENST00000253928;ENST00000416288	.	.	.	4.29	1.16	0.20824	Zinc finger, FLYWCH-type (1);	.	.	.	.	T	0.35393	0.0930	L	0.48642	1.525	0.09310	N	1	B;D	0.61697	0.106;0.99	B;P	0.48704	0.018;0.587	T	0.16424	-1.0403	8	0.59425	D	0.04	.	7.0628	0.25135	0.0:0.6751:0.0:0.3249	.	308;307	Q4VC44;Q4VC44-2	FWCH1_HUMAN;.	V	308;308;307	.	ENSP00000253928:A308V	A	+	2	0	FLYWCH1	2923258	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.149000	0.10204	0.399000	0.25367	-0.258000	0.10820	GCG	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000436479.1		+	ENST00000253928.9	Missense_Mutation	SNP	16 : 2983257 - 2983257 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	170	25
GAB4	128954	broad.mit.edu	37	22	17472966	17472966	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17472966C>T	ENST00000400588.1	-	2	382	c.275G>A	c.(274-276)cGc>cAc	p.R92H	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	92	PH.							p.R92P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GTTGATGGTGCGCAGGGGCTT	0.502		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)											211	222	218			NA	NA	22		NA											NA				17472966		2195	4300	6495	SO:0001583	missense			AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568	128954	128954		Pleckstrin homology (PH) domain containing	18325	protein-coding gene	gene with protein product					NA		Standard	XM_372882	NM_001037814	NA	Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.275G>A	22.37:g.17472966C>T	ENSP00000383431:p.Arg92His	NA		37	CCDS42976.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.296431	0.40594	.	.	ENSG00000215568	ENST00000400588	T	0.12361	2.69	1.81	1.81	0.25067	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	U	0.000001	T	0.32346	0.0826	M	0.75615	2.305	0.52099	D	0.999946	D	0.89917	1.0	D	0.87578	0.998	T	0.08576	-1.0715	10	0.56958	D	0.05	.	9.5993	0.39593	0.0:1.0:0.0:0.0	.	92	Q2WGN9	GAB4_HUMAN	H	92	ENSP00000383431:R92H	ENSP00000383431:R92H	R	-	2	0	GAB4	15852966	1.000000	0.71417	0.953000	0.39169	0.042000	0.13812	6.911000	0.75746	1.301000	0.44836	0.591000	0.81541	CGC	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000315426.1		-	ENST00000400588.1	Missense_Mutation	SNP	22 : 17472966 - 17472966 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1355	241
TTN	7273	broad.mit.edu	37	2	179457732	179457732	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179457732C>T	ENST00000589042.1	-	300	59338	c.59114G>A	c.(59113-59115)cGt>cAt	p.R19705H	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R18064H|TTN_ENST00000359218.5_Missense_Mutation_p.R10765H|TTN_ENST00000342175.6_Missense_Mutation_p.R10832H|TTN_ENST00000342992.6_Missense_Mutation_p.R17137H|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R10640H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18064	Fibronectin type-III 42.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCATCATGACGTGGTGGCTG	0.418		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	2		NA											NA				179457732		1913	4132	6045	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.59114G>A	2.37:g.179457732C>T	ENSP00000467141:p.Arg19705His	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018629	0.35606	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69824	0.3154	L	0.58428	1.81	0.50632	D	0.999883	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	P;P;P;P	0.62491	0.903;0.903;0.903;0.903	T	0.69183	-0.5212	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	10640;10765;10832;18064	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	17137;10640;10832;10765;10638	ENSP00000343764:R17137H;ENSP00000434586:R10640H;ENSP00000340554:R10832H;ENSP00000352154:R10765H	ENSP00000340554:R10832H	R	-	2	0	TTN	179165978	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.139000	0.50577	2.937000	0.99478	0.650000	0.86243	CGT	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179457732 - 179457732 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	862	248
TNFSF14	8740	broad.mit.edu	37	19	6665011	6665011	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6665011C>T	ENST00000326176.9	-	5	922	c.541G>A	c.(541-543)Gtc>Atc	p.V181I	TNFSF14_ENST00000599359.1_Missense_Mutation_p.V217I|TNFSF14_ENST00000245912.3_Missense_Mutation_p.V181I	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	217					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						AGCACACGGACGACCACCTTC	0.622		NA											C	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	4e-04	SNP								NA				0													158	129	139			NA	NA	19		NA											NA				6665011		2203	4300	6503	SO:0001583	missense			AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735	NA	8740		Tumor necrosis factor (ligand) superfamily, CD molecules	11930	protein-coding gene	gene with protein product		604520			NA	9462508	Standard		NM_172014	NA	Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000326176.9:c.541G>A	19.37:g.6665011C>T	ENSP00000326940:p.Val181Ile	NA	A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	37	CCDS45939.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.89	2.373441	0.42105	.	.	ENSG00000125735	ENST00000245912;ENST00000326176	T	0.37411	1.2	4.46	3.42	0.39159	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.083570	0.47093	D	0.000244	T	0.31327	0.0793	L	0.46741	1.465	0.32364	N	0.556802	P;P	0.50943	0.94;0.861	B;B	0.42361	0.385;0.095	T	0.49143	-0.8970	10	0.51188	T	0.08	-2.5432	10.7358	0.46124	0.0:0.9045:0.0:0.0955	.	217;181	O43557;O43557-2	TNF14_HUMAN;.	I	217;181	ENSP00000326940:V181I	ENSP00000245912:V217I	V	-	1	0	TNFSF14	6616011	0.991000	0.36638	0.620000	0.29132	0.457000	0.32468	3.191000	0.50981	2.038000	0.60285	0.561000	0.74099	GTC	TNFSF14-201	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457863.1		-	ENST00000326176.9	Missense_Mutation	SNP	19 : 6665011 - 6665011 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	650	104
APOL3	80833	broad.mit.edu	37	22	36537445	36537445	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36537445G>A	ENST00000424878.2	-	4	2560	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	APOL3_ENST00000397293.2_Missense_Mutation_p.R267W|APOL3_ENST00000361710.2_Missense_Mutation_p.R138W|APOL3_ENST00000349314.2_Missense_Mutation_p.R338W|APOL3_ENST00000397287.2_Missense_Mutation_p.R138W			O95236	APOL3_HUMAN	apolipoprotein L, 3	338					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity	p.R338W(1)|p.R267W(1)		endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						CTCAGGATCCGGGCTCCTCTG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	endometrium(2)											67	60	62			NA	NA	22		NA											NA				36537445		2203	4300	6503	SO:0001583	missense			AF305227	CCDS13922.1, CCDS13924.1	22q13.1	2013-01-24			ENSG00000128284	ENSG00000128284	80833	80833		Apolipoproteins	14868	protein-coding gene	gene with protein product		607253			NA	11374903	Standard	NM_145641	NM_145640	NA	Approved	CG12-1, APOLIII	uc003aot.3	O95236	OTTHUMG00000150632	ENST00000424878.2:c.412C>T	22.37:g.36537445G>A	ENSP00000415779:p.Arg138Trp	NA	B1AHI4|B1AHI5|Q5U5N4|Q9BQ82|Q9BQA3	37	CCDS13924.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.275184	0.59649	.	.	ENSG00000128284	ENST00000397293;ENST00000424878;ENST00000349314;ENST00000361710;ENST00000397287	T;T;T;T;T	0.04317	3.65;3.65;3.65;3.65;3.65	4.08	0.374	0.16183	.	0.000000	0.85682	D	0.000000	T	0.15262	0.0368	M	0.76170	2.325	0.28874	N	0.894763	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.01273	-1.1399	10	0.62326	D	0.03	.	6.8323	0.23917	0.0:0.1585:0.3732:0.4682	.	338;267	O95236;O95236-2	APOL3_HUMAN;.	W	267;138;338;138;138	ENSP00000380461:R267W;ENSP00000415779:R138W;ENSP00000344577:R338W;ENSP00000355164:R138W;ENSP00000380456:R138W	ENSP00000344577:R338W	R	-	1	2	APOL3	34867391	0.252000	0.23972	0.355000	0.25773	0.011000	0.07611	0.390000	0.20768	0.464000	0.27142	0.478000	0.44815	CGG	APOL3-202	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319266.1		-	ENST00000424878.2	Missense_Mutation	SNP	22 : 36537445 - 36537445 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	64
TTLL3	26140	broad.mit.edu	37	3	9862345	9862345	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9862345C>T	ENST00000455274.1	+	1	1359	c.9C>T	c.(7-9)atC>atT	p.I3I	TTLL3_ENST00000383827.1_Silent_p.I3I|TTLL3_ENST00000397241.1_Silent_p.I3I|TTLL3_ENST00000427853.3_Silent_p.I3I|TTLL3_ENST00000547186.1_Silent_p.I215I|ARPC4-TTLL3_ENST00000397256.1_Silent_p.I276I|TTLL3_ENST00000426895.4_Silent_p.I358I|TTLL3_ENST00000430793.1_Silent_p.I3I			Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	215					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					ACATGGACATCGACAAGGACC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	138	145			NA	NA	3		NA											NA				9862345		2203	4300	6503	SO:0001819	synonymous_variant				CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021	26140	26140		Tubulin tyrosine ligase-like family	24483	protein-coding gene	gene with protein product					NA	11054573	Standard	NM_001025930.2	NR_037162	NA	Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000455274.1:c.9C>T	3.37:g.9862345C>T		NA	Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	37		.	.	.	.	.	.	.	.	.	.	C	10.93	1.490530	0.26686	.	.	ENSG00000214021	ENST00000310252;ENST00000452823	.	.	.	4.87	-5.88	0.02290	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.5914	0.39548	0.0961:0.3039:0.0:0.6	.	.	.	.	X	171;133	.	.	R	+	1	2	TTLL3	9837345	0.001000	0.12720	0.899000	0.35326	0.993000	0.82548	-2.110000	0.01334	-1.158000	0.02811	-0.254000	0.11334	CGA	TTLL3-016	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000308977.2		+	ENST00000455274.1	Silent	SNP	3 : 9862345 - 9862345 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	615	111
BRD4	23476	broad.mit.edu	37	19	15349989	15349989	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15349989G>A	ENST00000263377.2	-	18	3884	c.3663C>T	c.(3661-3663)agC>agT	p.S1221S		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1221					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CGAAGCTGTCGCTGGATGACT	0.617		NA	T	C15orf55	lethal midline carcinoma of young people									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0													36	37	36			NA	NA	19		NA											NA				15349989		2203	4300	6503	SO:0001819	synonymous_variant			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867	23476	23476			13575	protein-coding gene	gene with protein product	chromosome-associated protein	608749	bromodomain-containing 4		NA	10938129	Standard	NM_058243	NM_058243	NA	Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.3663C>T	19.37:g.15349989G>A		NA	O60433|Q86YS8|Q96PD3	37	CCDS12328.1																																																																																			BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465800.3		-	ENST00000263377.2	Silent	SNP	19 : 15349989 - 15349989 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	204	16
TSPEAR	54084	broad.mit.edu	37	21	45949758	45949758	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45949758G>A	ENST00000397916.1	-	5	667	c.509C>T	c.(508-510)gCg>gTg	p.A170V	TSPEAR_ENST00000323084.4_Missense_Mutation_p.A238V			Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	238	TSP N-terminal.				cell adhesion	extracellular region	structural molecule activity	p.A238V(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GGACAGCACCGCCAGCGGGGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	central_nervous_system(1)						G	VAL/ALA	0,4406		0,0,2203	43	49	47		713	3.9	0	21		47	1,8599	1.2+/-3.3	0,1,4299	no	missense	TSPEAR	NM_144991.2	64	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	238/670	45949758	1,13005	2203	4300	6503	SO:0001583	missense			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894	54084	54084			1268	protein-coding gene	gene with protein product		612920	chromosome 21 open reading frame 29, deafness, autosomal recessive 98	C21orf29, DFNB98	NA	12095917, 22678063	Standard	NM_144991	NM_144991	NA	Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000397916.1:c.509C>T	21.37:g.45949758G>A	ENSP00000381012:p.Ala170Val	NA		37		.	.	.	.	.	.	.	.	.	.	G	13.32	2.202198	0.38905	0.0	1.16E-4	ENSG00000175894	ENST00000323084;ENST00000397916;ENST00000341581	T;T	0.46819	0.86;0.86	4.83	3.94	0.45596	.	0.146393	0.45361	D	0.000377	T	0.40694	0.1127	L	0.55103	1.725	0.47123	D	0.999327	B	0.24258	0.1	B	0.14023	0.01	T	0.19877	-1.0292	10	0.19147	T	0.46	-8.2929	13.236	0.59969	0.079:0.0:0.921:0.0	.	238	Q8WU66	TSEAR_HUMAN	V	238;170;238	ENSP00000321987:A238V;ENSP00000381012:A170V	ENSP00000321987:A238V	A	-	2	0	TSPEAR	44774186	0.598000	0.26882	0.034000	0.17996	0.601000	0.36947	3.441000	0.52893	0.991000	0.38814	0.491000	0.48974	GCG	TSPEAR-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000195865.1		-	ENST00000397916.1	Missense_Mutation	SNP	21 : 45949758 - 45949758 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	302	60
DIDO1	11083	broad.mit.edu	37	20	61542721	61542721	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61542721G>A	ENST00000266070.4	-	3	569	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W	DIDO1_ENST00000266071.5_Missense_Mutation_p.R82W|DIDO1_ENST00000395343.1_Missense_Mutation_p.R82W|DIDO1_ENST00000370371.4_Missense_Mutation_p.R82W|DIDO1_ENST00000370366.1_Missense_Mutation_p.R82W|DIDO1_ENST00000354665.4_Missense_Mutation_p.R82W|DIDO1_ENST00000395340.1_Missense_Mutation_p.R82W|DIDO1_ENST00000395335.2_Missense_Mutation_p.R82W|DIDO1_ENST00000370368.1_Missense_Mutation_p.R82W	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	82					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCGCGGCGCCGCGCAATGGTC	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)							NA				0													28	28	28			NA	NA	20		NA											NA				61542721		2201	4297	6498	SO:0001583	missense			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191	11083	11083		Zinc fingers, PHD-type	2680	protein-coding gene	gene with protein product		604140	chromosome 20 open reading frame 158, death associated transcription factor 1	C20orf158, DATF1	NA	10393935	Standard	NM_080796	NM_033081	NA	Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.244C>T	20.37:g.61542721G>A	ENSP00000266070:p.Arg82Trp	NA	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	37	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805430	0.50315	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.26223	2.58;2.58;2.27;2.27;1.75;1.75;1.75;1.77;1.77	5.83	3.76	0.43208	.	0.000000	0.38663	U	0.001609	T	0.49133	0.1539	M	0.72118	2.19	0.38829	D	0.955809	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.997	T	0.55309	-0.8161	10	0.87932	D	0	-23.3203	13.2476	0.60031	0.0:0.0:0.5804:0.4196	.	82;82;82;82	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	W	82	ENSP00000266070:R82W;ENSP00000378752:R82W;ENSP00000378749:R82W;ENSP00000378744:R82W;ENSP00000359397:R82W;ENSP00000359394:R82W;ENSP00000346692:R82W;ENSP00000359391:R82W;ENSP00000266071:R82W	ENSP00000266070:R82W	R	-	1	2	DIDO1	61013166	0.997000	0.39634	0.016000	0.15963	0.030000	0.12068	3.413000	0.52686	0.774000	0.33427	0.655000	0.94253	CGG	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080091.2		-	ENST00000266070.4	Missense_Mutation	SNP	20 : 61542721 - 61542721 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	262	50
TPM2	7169	broad.mit.edu	37	9	35685748	35685748	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35685748G>A	ENST00000378292.3	-	3	1472	c.270C>T	c.(268-270)cgC>cgT	p.R90R	TPM2_ENST00000360958.2_Silent_p.R90R|TPM2_ENST00000329305.2_Silent_p.R90R|TPM2_ENST00000378300.5_Silent_p.R90R	NM_213674.1	NP_998839.1	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	90					muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCTGAATGCGGCGGTTCAGGG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	46	46			NA	NA	9		NA											NA				35685748		2203	4300	6503	SO:0001819	synonymous_variant				CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467	7169	7169		Tropomyosins	12011	protein-coding gene	gene with protein product	nemaline myopathy type 4	190990	arthrogryposis multiplex congenital, distal, type 1	AMCD1	NA	7606936	Standard	NM_003289	NM_003289	NA	Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000378292.3:c.270C>T	9.37:g.35685748G>A		NA	A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	37	CCDS6586.1																																																																																			TPM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052375.1		-	ENST00000378292.3	Silent	SNP	9 : 35685748 - 35685748 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	512	86
IL1RL2	8808	broad.mit.edu	37	2	102818144	102818144	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:102818144C>T	ENST00000264257.2	+	5	744	c.618C>T	c.(616-618)taC>taT	p.Y206Y	IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Silent_p.Y206Y|IL1RL2_ENST00000441515.2_Silent_p.Y89Y	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	206	Ig-like C2-type 2.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						GGAAGCAGTACGAGGTTTTAA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	108	117			NA	NA	2		NA											NA				102818144		2203	4300	6503	SO:0001819	synonymous_variant			U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598	8808	8808		Interleukins and interleukin receptors, Immunoglobulin superfamily / Immunoglobulin-like domain containing	5999	protein-coding gene	gene with protein product		604512			NA	8898719, 10191101, 11466363	Standard	NM_003854	NM_003854	NA	Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.618C>T	2.37:g.102818144C>T		NA	Q13525|Q45H74|Q53TU8|Q587I8	37	CCDS2056.1																																																																																			IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253290.1		+	ENST00000264257.2	Silent	SNP	2 : 102818144 - 102818144 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	238	40
C20orf195	79025	broad.mit.edu	37	20	62187575	62187575	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62187575C>T	ENST00000370098.3	+	2	651	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C	C20orf195_ENST00000370097.1_Missense_Mutation_p.R187C	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	187										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CGTCAAGCACCGCCTGGTGTC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	72	72			NA	NA	20		NA											NA				62187575		2203	4300	6503	SO:0001583	missense				CCDS13526.1	20q13.33	2014-02-12			ENSG00000125531	ENSG00000125531	79025	79025			28764	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024059	NM_024059	NA	Approved	MGC5356	uc002yfj.3	Q9BVV2	OTTHUMG00000032980	ENST00000370098.3:c.559C>T	20.37:g.62187575C>T	ENSP00000359116:p.Arg187Cys	NA		37	CCDS13526.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539105	0.45176	.	.	ENSG00000125531	ENST00000370098;ENST00000370097	.	.	.	5.47	5.47	0.80525	.	0.000000	0.53938	D	0.000046	T	0.65678	0.2714	L	0.29908	0.895	0.46586	D	0.999115	D	0.89917	1.0	D	0.71414	0.973	T	0.68842	-0.5302	9	0.87932	D	0	-28.6082	15.6531	0.77112	0.1377:0.8623:0.0:0.0	.	187	Q9BVV2	CT195_HUMAN	C	187	.	ENSP00000359115:R187C	R	+	1	0	C20orf195	61658019	1.000000	0.71417	1.000000	0.80357	0.151000	0.21798	2.253000	0.43205	2.573000	0.86826	0.655000	0.94253	CGC	C20orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080155.1		+	ENST00000370098.3	Missense_Mutation	SNP	20 : 62187575 - 62187575 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	780	149
PTPDC1	138639	broad.mit.edu	37	9	96860569	96860569	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96860569A>G	ENST00000288976.3	+	6	1782	c.1715A>G	c.(1714-1716)cAg>cGg	p.Q572R	PTPDC1_ENST00000375360.3_Missense_Mutation_p.Q520R	NM_001253829.1|NM_152422.4	NP_001240758.1|NP_689635.3	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	520							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CCTGCTCACCAGCAAGTGTCT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	91	89			NA	NA	9		NA											NA				96860569		2203	4300	6503	SO:0001583	missense			BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079	138639	138639		Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s	30184	protein-coding gene	gene with protein product	protein tyrosine phosphatase PTP9Q22				NA	14702039	Standard	NM_177995, NM_152422	NM_152422	NA	Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000288976.3:c.1715A>G	9.37:g.96860569A>G	ENSP00000288976:p.Gln572Arg	NA	Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	37	CCDS6708.1	.	.	.	.	.	.	.	.	.	.	.	5.806	0.333069	0.11013	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.46451	0.87;0.87	6.06	3.62	0.41486	.	0.653390	0.16932	N	0.193629	T	0.27866	0.0686	L	0.45581	1.43	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.08055	0.001;0.003;0.001;0.002	T	0.30966	-0.9960	10	0.10111	T	0.7	-4.0139	2.7677	0.05325	0.6194:0.155:0.0776:0.148	.	574;572;574;520	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	R	520;572	ENSP00000364509:Q520R;ENSP00000288976:Q572R	ENSP00000288976:Q572R	Q	+	2	0	PTPDC1	95900390	0.550000	0.26489	0.079000	0.20413	0.606000	0.37113	2.715000	0.47210	0.474000	0.27392	0.533000	0.62120	CAG	PTPDC1-002	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053171.2		+	ENST00000288976.3	Missense_Mutation	SNP	9 : 96860569 - 96860569 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	486	14
ANLN	54443	broad.mit.edu	37	7	36489433	36489433	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36489433C>A	ENST00000265748.2	+	23	3459	c.3238C>A	c.(3238-3240)Ctc>Atc	p.L1080I	ANLN_ENST00000396068.2_Missense_Mutation_p.L1043I	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	1080	Localization to the cleavage furrow.|PH.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CAGGGACACACTCTGTGTTAC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	79	81			NA	NA	7		NA											NA				36489433		2203	4300	6503	SO:0001583	missense			AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426	54443	54443		Pleckstrin homology (PH) domain containing	14082	protein-coding gene	gene with protein product			anillin (Drosophila Scraps homolog), actin binding protein, anillin, actin binding protein (scraps homolog, Drosophila)		NA	10931866	Standard	NM_018685	NM_001284301	NA	Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.3238C>A	7.37:g.36489433C>A	ENSP00000265748:p.Leu1080Ile	NA	Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	37	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911644	0.72983	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.13538	2.58;2.6	5.37	5.37	0.77165	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.121557	0.56097	D	0.000025	T	0.26702	0.0653	N	0.25890	0.77	0.54753	D	0.999981	D;P;P;P	0.67145	0.996;0.631;0.577;0.631	D;P;B;P	0.80764	0.994;0.579;0.443;0.579	T	0.01301	-1.1391	10	0.44086	T	0.13	-8.1585	18.4774	0.90798	0.0:1.0:0.0:0.0	.	957;1042;1043;1080	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	I	1080;1043	ENSP00000265748:L1080I;ENSP00000379380:L1043I	ENSP00000265748:L1080I	L	+	1	0	ANLN	36455958	0.906000	0.30813	0.923000	0.36655	0.973000	0.67179	1.935000	0.40173	2.665000	0.90641	0.655000	0.94253	CTC	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000218582.3		+	ENST00000265748.2	Missense_Mutation	SNP	7 : 36489433 - 36489433 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	319	65
BRD4	23476	broad.mit.edu	37	19	15375447	15375447	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15375447G>A	ENST00000263377.2	-	6	1201	c.980C>T	c.(979-981)cCt>cTt	p.P327L	BRD4_ENST00000371835.4_Missense_Mutation_p.P327L|BRD4_ENST00000360016.5_Missense_Mutation_p.P327L	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	327					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			AGGTTTCACAGGCCGGCTGCT	0.652		NA	T	C15orf55	lethal midline carcinoma of young people						OREG0025319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0													57	50	52			NA	NA	19		NA											NA				15375447		2203	4300	6503	SO:0001583	missense			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867	23476	23476			13575	protein-coding gene	gene with protein product	chromosome-associated protein	608749	bromodomain-containing 4		NA	10938129	Standard	NM_058243	NM_058243	NA	Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.980C>T	19.37:g.15375447G>A	ENSP00000263377:p.Pro327Leu	702	O60433|Q86YS8|Q96PD3	37	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.739736	0.89573	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.37058	1.22;2.93;2.88	5.45	5.45	0.79879	Bromodomain (1);	0.000000	0.64402	D	0.000008	T	0.58090	0.2098	M	0.85542	2.76	0.80722	D	1	D;D;D	0.65815	0.995;0.968;0.987	P;P;P	0.57425	0.82;0.8;0.755	T	0.64487	-0.6396	10	0.66056	D	0.02	-8.4213	13.0701	0.59057	0.0:0.0:0.839:0.161	.	327;327;327	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	L	327	ENSP00000263377:P327L;ENSP00000360901:P327L;ENSP00000353112:P327L	ENSP00000263377:P327L	P	-	2	0	BRD4	15236447	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.791000	0.85805	2.556000	0.86216	0.563000	0.77884	CCT	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465800.3		-	ENST00000263377.2	Missense_Mutation	SNP	19 : 15375447 - 15375447 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	505	21
RYR3	6263	broad.mit.edu	37	15	33873841	33873841	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33873841C>A	ENST00000389232.4	+	14	1640	c.1570C>A	c.(1570-1572)Ctg>Atg	p.L524M	RYR3_ENST00000415757.3_Missense_Mutation_p.L524M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	524					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTACAAATTGCTGGGTAAGTA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	109	108			NA	NA	15		NA											NA				33873841		1918	4134	6052	SO:0001583	missense				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838	6263	6263		Ion channels / Ryanodine receptors, EF-hand domain containing	10485	protein-coding gene	gene with protein product		180903			NA	8276408	Standard		NM_001036	NA	Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1570C>A	15.37:g.33873841C>A	ENSP00000373884:p.Leu524Met	NA	O15175|Q15412	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.128371	0.37533	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.95918	-3.85;-3.85	5.31	3.44	0.39384	Intracellular calcium-release channel (1);	0.000000	0.64402	D	0.000010	D	0.97576	0.9206	M	0.88105	2.93	0.44221	D	0.99705	D;D	0.89917	0.999;1.0	D;D	0.91635	0.994;0.999	D	0.97111	0.9804	10	0.87932	D	0	.	10.0129	0.41997	0.0:0.7247:0.0:0.2753	.	524;524	Q15413-2;Q15413	.;RYR3_HUMAN	M	524	ENSP00000373884:L524M;ENSP00000399610:L524M	ENSP00000354735:L524M	L	+	1	2	RYR3	31661133	0.987000	0.35691	0.990000	0.47175	0.406000	0.30931	1.186000	0.32078	0.626000	0.30322	-0.251000	0.11542	CTG	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417514.1		+	ENST00000389232.4	Missense_Mutation	SNP	15 : 33873841 - 33873841 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	423	76
MUC4	4585	broad.mit.edu	37	3	195517585	195517585	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195517585A>G	ENST00000463781.3	-	2	1325	c.866T>C	c.(865-867)cTt>cCt	p.L289P	MUC4_ENST00000475231.1_Missense_Mutation_p.L289P|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	294					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GACTGGCATAAGACTTCCAGT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	162	166			NA	NA	3		NA											NA				195517585		1984	4160	6144	SO:0001583	missense			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113	4585	4585		Mucins	7514	protein-coding gene	gene with protein product		158372	mucin 4, tracheobronchial		NA	1673336	Standard	NM_018406	NM_004532	NA	Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.866T>C	3.37:g.195517585A>G	ENSP00000417498:p.Leu289Pro	NA	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	3.264	-0.150552	0.06585	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.36520	1.25;1.25	2.84	-1.15	0.09709	.	.	.	.	.	T	0.22205	0.0535	L	0.29908	0.895	0.09310	N	1	B;B	0.17852	0.024;0.001	B;B	0.20767	0.031;0.004	T	0.27331	-1.0077	9	0.25106	T	0.35	.	6.2536	0.20861	0.4505:0.0:0.5495:0.0	.	289;294	E7ESK3;Q99102	.;MUC4_HUMAN	P	289;289;263	ENSP00000417498:L289P;ENSP00000420243:L289P	ENSP00000376209:L263P	L	-	2	0	MUC4	197001980	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.104000	0.03326	-0.195000	0.10382	0.436000	0.28706	CTT	MUC4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324081.6		-	ENST00000463781.3	Missense_Mutation	SNP	3 : 195517585 - 195517585 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	413	89
ARHGEF19	128272	broad.mit.edu	37	1	16532534	16532534	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16532534C>T	ENST00000270747.3	-	8	1479	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H	ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	448	DH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CACGCTGAAGCGCAGCACATC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	34	34			NA	NA	1		NA											NA				16532534		2202	4298	6500	SO:0001583	missense			BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632	128272	128272		Rho guanine nucleotide exchange factors	26604	protein-coding gene	gene with protein product		612496			NA	12477932	Standard	NM_153213	NM_153213	NA	Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.1343G>A	1.37:g.16532534C>T	ENSP00000270747:p.Arg448His	NA	A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	37	CCDS170.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.44|12.44	1.938587|1.938587	0.34189|0.34189	.|.	.|.	ENSG00000142632|ENSG00000142632	ENST00000449495|ENST00000270747;ENST00000421561;ENST00000375607;ENST00000441785	.|T;T;T	.|0.29397	.|1.57;1.57;2.32	4.66|4.66	4.66|4.66	0.58398|0.58398	.|Dbl homology (DH) domain (5);	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.14657|0.14657	0.0354|0.0354	N|N	0.11560|0.11560	0.145|0.145	0.41567|0.41567	D|D	0.988663|0.988663	.|B	.|0.13594	.|0.008	.|B	.|0.13407	.|0.009	T|T	0.12656|0.12656	-1.0539|-1.0539	5|10	.|0.15499	.|T	.|0.54	.|.	8.8197|8.8197	0.35018|0.35018	0.0:0.8962:0.0:0.1038|0.0:0.8962:0.0:0.1038	.|.	.|448	.|Q8IW93	.|ARHGJ_HUMAN	T|H	137|448;448;448;131	.|ENSP00000270747:R448H;ENSP00000396001:R448H;ENSP00000414370:R131H	.|ENSP00000270747:R448H	A|R	-|-	1|2	0|0	ARHGEF19|ARHGEF19	16405121|16405121	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	1.166000|1.166000	0.31834|0.31834	2.129000|2.129000	0.65627|0.65627	0.561000|0.561000	0.74099|0.74099	GCT|CGC	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006289.1		-	ENST00000270747.3	Missense_Mutation	SNP	1 : 16532534 - 16532534 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	51	12
NIN	51199	broad.mit.edu	37	14	51221342	51221342	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51221342G>A	ENST00000530997.2	-	18	4672	c.4673C>T	c.(4672-4674)aCg>aTg	p.T1558M	NIN_ENST00000245441.5_Missense_Mutation_p.T1558M|NIN_ENST00000453196.1_Missense_Mutation_p.T1558M|NIN_ENST00000324330.9_Missense_Mutation_p.T1558M|NIN_ENST00000389868.3_Missense_Mutation_p.T845M|NIN_ENST00000382043.4_Missense_Mutation_p.T845M|NIN_ENST00000382041.3_Missense_Mutation_p.T1558M			Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1558					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TACAGTTTCCGTTTTTTGCCT	0.274		NA	T	PDGFRB	MPD									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0													70	66	67			NA	NA	14		NA											NA				51221342		2198	4293	6491	SO:0001583	missense			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503	51199	51199		EF-hand domain containing	14906	protein-coding gene	gene with protein product		608684			NA	11004522, 11162463	Standard	NM_182946	NM_020921	NA	Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000530997.2:c.4673C>T	14.37:g.51221342G>A	ENSP00000436092:p.Thr1558Met	NA	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	37		.	.	.	.	.	.	.	.	.	.	G	10.85	1.466720	0.26335	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	T;T;T;T;T;T	0.11604	3.56;2.76;2.76;3.3;3.3;3.3	4.77	3.63	0.41609	.	0.570870	0.19028	N	0.124637	T	0.07908	0.0198	N	0.22421	0.69	0.24797	N	0.992728	P;P;P;D;P	0.61080	0.799;0.871;0.709;0.989;0.895	B;B;B;B;B	0.43701	0.159;0.101;0.165;0.428;0.308	T	0.23619	-1.0183	10	0.30078	T	0.28	-4.709	8.8968	0.35470	0.9068:0.0:0.0932:0.0	.	1564;1558;1558;845;1558	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	M	1558;1541;845;845;1564;1558;1558;1558	ENSP00000245441:T1558M;ENSP00000374518:T845M;ENSP00000371474:T845M;ENSP00000371472:T1558M;ENSP00000324210:T1558M;ENSP00000412391:T1558M	ENSP00000245441:T1558M	T	-	2	0	NIN	50291092	1.000000	0.71417	0.989000	0.46669	0.422000	0.31414	3.796000	0.55507	0.791000	0.33826	-0.471000	0.05019	ACG	NIN-017	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000395210.2		-	ENST00000530997.2	Missense_Mutation	SNP	14 : 51221342 - 51221342 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	144	22
CUBN	8029	broad.mit.edu	37	10	17171244	17171244	+	Missense_Mutation	SNP	C	C	T	rs149358798	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17171244C>T	ENST00000377833.4	-	2	193	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	CUBN_ENST00000377823.1_Missense_Mutation_p.R43Q	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	43					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTAGCCATTCGAGGCCTATA	0.348		NA											C	2	9e-04	0.0041	NA	2184	NA	1	,	,	NA	4e-04	NA	NA	NA	9e-04	0.9756	EXOME	NA	NA	0.0048	SNP								NA				0								C	GLN/ARG	9,4395	14.3+/-33.2	0,9,2193	55	57	56		128	5.2	0.9	10	dbSNP_134	56	0,8600		0,0,4300	yes	missense	CUBN	NM_001081.3	43	0,9,6493	TT,TC,CC	NA	0.0,0.2044,0.0692	probably-damaging	43/3624	17171244	9,12995	2202	4300	6502	SO:0001583	missense			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611	8029	8029			2548	protein-coding gene	gene with protein product		602997		MGA1	NA	9572993, 9478979	Standard	NM_001081	NM_001081	NA	Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.128G>A	10.37:g.17171244C>T	ENSP00000367064:p.Arg43Gln	NA	B0YIZ4|Q5VTA6|Q96RU9	37	CCDS7113.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	26.1	4.702199	0.88924	0.002044	0.0	ENSG00000107611	ENST00000377833;ENST00000377823	T;D	0.91237	-1.26;-2.81	5.23	5.23	0.72850	.	0.000000	0.37261	N	0.002177	D	0.94026	0.8086	M	0.66939	2.045	0.43545	D	0.995849	D	0.89917	1.0	D	0.63957	0.92	D	0.92953	0.6382	10	0.36615	T	0.2	.	17.9274	0.88987	0.0:1.0:0.0:0.0	.	43	O60494	CUBN_HUMAN	Q	43	ENSP00000367064:R43Q;ENSP00000367054:R43Q	ENSP00000367054:R43Q	R	-	2	0	CUBN	17211250	0.999000	0.42202	0.871000	0.34182	0.916000	0.54674	5.259000	0.65485	2.598000	0.87819	0.591000	0.81541	CGA	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047009.1		-	ENST00000377833.4	Missense_Mutation	SNP	10 : 17171244 - 17171244 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	277	11
TMEM95	339168	broad.mit.edu	37	17	7258594	7258594	+	Missense_Mutation	SNP	C	C	T	rs141789227		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7258594C>T	ENST00000389982.4	+	1	153	c.71C>T	c.(70-72)gCc>gTc	p.A24V	TMEM95_ENST00000576060.1_Missense_Mutation_p.A24V|TMEM95_ENST00000330767.4_Missense_Mutation_p.A24V			Q3KNT9	TMM95_HUMAN	transmembrane protein 95	24						integral to membrane				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				CGCCTCCCAGCCCACGACTTG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	30	31	31		71	-3.2	0	17	dbSNP_134	31	0,8600		0,0,4300	no	missense	TMEM95	NM_198154.1	64	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	possibly-damaging	24/185	7258594	1,13005	2203	4300	6503	SO:0001583	missense				CCDS32546.1	17p13.1	2005-12-15			ENSG00000182896	ENSG00000182896	339168	339168			27898	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_198154	NM_198154	NA	Approved	MGC129793, UNQ9390	uc002ggf.1	Q3KNT9	OTTHUMG00000132899	ENST00000389982.4:c.71C>T	17.37:g.7258594C>T	ENSP00000374632:p.Ala24Val	NA	B7WPI7|Q6UXT3|Q8IW68	37		.	.	.	.	.	.	.	.	.	.	C	18.74	3.688647	0.68271	2.27E-4	0.0	ENSG00000182896	ENST00000389982;ENST00000330767	.	.	.	4.79	-3.19	0.05171	.	0.596942	0.13945	N	0.351909	T	0.31167	0.0788	N	0.24115	0.695	0.09310	N	1	B;B;B	0.33238	0.403;0.403;0.403	B;B;B	0.38842	0.161;0.283;0.161	T	0.24012	-1.0172	9	0.41790	T	0.15	.	14.8977	0.70656	0.7628:0.2372:0.0:0.0	.	24;24;24	Q3KNT9;Q3KNT9-3;Q3KNT9-2	TMM95_HUMAN;.;.	V	24	.	ENSP00000331466:A24V	A	+	2	0	TMEM95	7199318	0.000000	0.05858	0.000000	0.03702	0.968000	0.65278	-0.615000	0.05597	-0.717000	0.04955	0.561000	0.74099	GCC	TMEM95-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000256403.1		+	ENST00000389982.4	Missense_Mutation	SNP	17 : 7258594 - 7258594 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	249	37
HOXB8	3218	broad.mit.edu	37	17	46691797	46691797	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46691797C>T	ENST00000239144.4	-	1	504	c.270G>A	c.(268-270)ccG>ccA	p.P90P	HOXB7_ENST00000567101.2_Intron|HOXB8_ENST00000576562.1_Silent_p.P90P	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	90						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						GGCGTTGCAGCGGGTCGTAGC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	49	49			NA	NA	17		NA											NA				46691797		2203	4298	6501	SO:0001819	synonymous_variant				CCDS11533.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120068	ENSG00000120068	3218	3218		Homeoboxes / ANTP class : HOXL subclass	5119	protein-coding gene	gene with protein product		142963	homeo box B8	HOX2, HOX2D	NA	1973146, 1358459	Standard		XM_005257286	NA	Approved		uc002inw.3	P17481	OTTHUMG00000159904	ENST00000239144.4:c.270G>A	17.37:g.46691797C>T		NA	Q9H1I2	37	CCDS11533.1																																																																																			HOXB8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358092.3		-	ENST00000239144.4	Silent	SNP	17 : 46691797 - 46691797 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	455	19
RDX	5962	broad.mit.edu	37	11	110124728	110124728	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110124728T>C	ENST00000528498.1	-	9	1211	c.902A>G	c.(901-903)gAa>gGa	p.E301G	RDX_ENST00000530301.1_Intron|RDX_ENST00000343115.4_Missense_Mutation_p.E301G|RDX_ENST00000544551.1_Missense_Mutation_p.E165G|RDX_ENST00000405097.1_Missense_Mutation_p.E301G|RDX_ENST00000528900.1_Intron	NM_001260493.1	NP_001247422.1	P35241	RADI_HUMAN	radixin	301					actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		CTGTTGTACTTCAATAGTATC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(55;25 1062 11040 28755 44273)							NA				0													124	108	113			NA	NA	11		NA											NA				110124728		2201	4298	6499	SO:0001583	missense			BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710	5962	5962			9944	protein-coding gene	gene with protein product		179410	deafness, autosomal recessive 24	DFNB24	NA	8486357, 17226784	Standard	NM_002906	NM_001260492	NA	Approved		uc031qdy.1	P35241		ENST00000528498.1:c.902A>G	11.37:g.110124728T>C	ENSP00000432112:p.Glu301Gly	NA	Q86Y61	37	CCDS58174.1	.	.	.	.	.	.	.	.	.	.	T	18.61	3.661312	0.67700	.	.	ENSG00000137710	ENST00000528498;ENST00000429481;ENST00000405097;ENST00000343115;ENST00000544551	D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.93154	0.7820	M	0.92219	3.285	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.996;0.974	D	0.94672	0.7857	10	0.87932	D	0	.	16.0055	0.80359	0.0:0.0:0.0:1.0	.	165;301;301	F5H1A7;A7YIJ8;P35241	.;.;RADI_HUMAN	G	301;301;301;301;165	ENSP00000432112:E301G;ENSP00000384136:E301G;ENSP00000342830:E301G;ENSP00000445826:E165G	ENSP00000342830:E301G	E	-	2	0	RDX	109629938	1.000000	0.71417	0.689000	0.30133	0.065000	0.16274	7.986000	0.88173	2.184000	0.69523	0.533000	0.62120	GAA	RDX-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390531.1		-	ENST00000528498.1	Missense_Mutation	SNP	11 : 110124728 - 110124728 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	437	76
SMARCC2	6601	broad.mit.edu	37	12	56558134	56558134	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56558134A>G	ENST00000394023.3	-	29	3440	c.3335T>C	c.(3334-3336)gTg>gCg	p.V1112A	SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000267064.4_Missense_Mutation_p.V1174A|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Missense_Mutation_p.V1205A	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1079	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AACAGCTGCCACAATGGCAGG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	41	40			NA	NA	12		NA											NA				56558134		2195	4280	6475	SO:0001583	missense			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613	6601	6601			11105	protein-coding gene	gene with protein product		601734			NA	8804307, 9693044	Standard		NM_001130420	NA	Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000394023.3:c.3335T>C	12.37:g.56558134A>G	ENSP00000377591:p.Val1112Ala	NA	Q92923|Q96E12|Q96GY4	37	CCDS55835.1	.	.	.	.	.	.	.	.	.	.	A	17.07	3.294410	0.60086	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000267064	T;T;T	0.56941	1.2;0.43;0.44	5.28	5.28	0.74379	.	0.000000	0.42548	D	0.000686	T	0.55242	0.1908	N	0.14661	0.345	0.32803	D	0.500392	P;P;P	0.52577	0.954;0.924;0.924	D;P;P	0.65140	0.932;0.857;0.857	T	0.68217	-0.5467	10	0.87932	D	0	-14.2644	14.4903	0.67647	1.0:0.0:0.0:0.0	.	1112;1116;1174	F8VTJ5;Q59G16;Q8TAQ2	.;.;SMRC2_HUMAN	A	1112;1205;1174	ENSP00000377591:V1112A;ENSP00000449396:V1205A;ENSP00000267064:V1174A	ENSP00000267064:V1174A	V	-	2	0	SMARCC2	54844401	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.239000	0.58694	2.132000	0.65825	0.460000	0.39030	GTG	SMARCC2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408459.1		-	ENST00000394023.3	Missense_Mutation	SNP	12 : 56558134 - 56558134 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	574	121
ZFAND5	7763	broad.mit.edu	37	9	74971957	74971957	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:74971957C>A	ENST00000237937.3	-	5	940	c.383G>T	c.(382-384)aGt>aTt	p.S128I	ZFAND5_ENST00000376962.5_Missense_Mutation_p.S128I|ZFAND5_ENST00000376960.4_Missense_Mutation_p.S128I|ZFAND5_ENST00000343431.2_Missense_Mutation_p.S128I|ZFAND5_ENST00000488164.1_5'UTR	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	128							DNA binding|zinc ion binding			cervix(1)|kidney(2)|lung(2)|prostate(1)	6						AACTGATGGACTGGGCTGAGT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	94	97			NA	NA	9		NA											NA				74971957		2203	4299	6502	SO:0001583	missense			AF062072	CCDS6642.1	9q13-q21	2008-05-02	2006-07-07	2006-07-07	ENSG00000107372	ENSG00000107372	NA	7763		Zinc fingers, AN1-type domain containing	13008	protein-coding gene	gene with protein product		604761	zinc finger protein 216, zinc finger, A20 domain containing 2	ZNF216, ZA20D2	NA	9758550	Standard		NM_001278243	NA	Approved	ZFAND5A	uc004aiy.2	O76080	OTTHUMG00000020008	ENST00000237937.3:c.383G>T	9.37:g.74971957C>A	ENSP00000237937:p.Ser128Ile	NA	A8K484	37	CCDS6642.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.763741	0.49574	.	.	ENSG00000107372	ENST00000237937;ENST00000376960;ENST00000376962;ENST00000343431;ENST00000376956	.	.	.	6.17	6.17	0.99709	.	0.274244	0.46145	D	0.000312	T	0.51686	0.1689	N	0.20986	0.625	0.41066	D	0.985415	B	0.06786	0.001	B	0.06405	0.002	T	0.41770	-0.9490	9	0.46703	T	0.11	-10.2096	17.766	0.88477	0.0:0.8782:0.1218:0.0	.	128	O76080	ZFAN5_HUMAN	I	128;128;128;128;180	.	ENSP00000237937:S128I	S	-	2	0	ZFAND5	74161777	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.034000	0.64152	2.941000	0.99782	0.655000	0.94253	AGT	ZFAND5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052644.1		-	ENST00000237937.3	Missense_Mutation	SNP	9 : 74971957 - 74971957 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	273	57
AKTIP	64400	broad.mit.edu	37	16	53532472	53532472	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53532472C>T	ENST00000394657.7	-	3	253	c.79G>A	c.(79-81)Gtg>Atg	p.V27M	AKTIP_ENST00000570004.1_Missense_Mutation_p.V27M|AKTIP_ENST00000300245.4_Missense_Mutation_p.V27M	NM_001012398.1|NM_022476.2	NP_001012398.1|NP_071921.1	Q9H8T0	AKTIP_HUMAN	AKT interacting protein	NA					apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				CTGGTTTTCACGTCCCCTGTT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	110	112			NA	NA	16		NA											NA				53532472		2198	4300	6498	SO:0001583	missense			AK023320	CCDS10749.1	16q12.2	2010-01-14	2007-01-16	2007-01-16	ENSG00000166971	ENSG00000166971	64400	64400		Ubiquitin-conjugating enzymes E2	16710	protein-coding gene	gene with protein product		608483	fused toes (mouse) homolog, fused toes homolog (mouse)	FTS	NA	7818539, 8626685	Standard	NM_022476	XM_005256094	NA	Approved	FLJ13258	uc002ehl.3	Q9H8T0	OTTHUMG00000133199	ENST00000394657.7:c.79G>A	16.37:g.53532472C>T	ENSP00000378152:p.Val27Met	NA	Q503B1|Q53H38	37	CCDS10749.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222642	0.39300	.	.	ENSG00000166971	ENST00000394657;ENST00000300245	D;D	0.82803	-1.65;-1.65	5.05	2.98	0.34508	.	0.407215	0.27345	N	0.019790	T	0.64305	0.2586	N	0.08118	0	0.27982	N	0.935988	B;B;B	0.18610	0.017;0.029;0.017	B;B;B	0.15870	0.006;0.014;0.006	T	0.58126	-0.7691	10	0.45353	T	0.12	0.9395	8.2208	0.31541	0.0:0.5872:0.3207:0.0922	.	27;27;27	B4E0S4;Q9H8T0-2;Q9H8T0	.;.;AKTIP_HUMAN	M	27	ENSP00000378152:V27M;ENSP00000300245:V27M	ENSP00000300245:V27M	V	-	1	0	AKTIP	52089973	0.998000	0.40836	0.997000	0.53966	0.983000	0.72400	2.535000	0.45685	1.506000	0.48736	0.555000	0.69702	GTG	AKTIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256909.4		-	ENST00000394657.7	Missense_Mutation	SNP	16 : 53532472 - 53532472 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	695	115
LSS	4047	broad.mit.edu	37	21	47639448	47639448	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47639448G>T	ENST00000397728.3	-	6	667	c.589C>A	c.(589-591)Ctg>Atg	p.L197M	LSS_ENST00000457828.2_Missense_Mutation_p.L117M|LSS_ENST00000522411.1_Missense_Mutation_p.L186M|LSS_ENST00000464357.1_5'UTR|LSS_ENST00000356396.4_Missense_Mutation_p.L197M	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	197					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					AGGACAGCCAGCCAGAACTTC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(114;955 2313 34923 50507)							NA				0													160	116	131			NA	NA	21		NA											NA				47639448		2203	4300	6503	SO:0001583	missense			U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	4047	4047	5.4.99.7		6708	protein-coding gene	gene with protein product		600909			NA	7639730, 8655142	Standard		NM_001001438	NA	Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.589C>A	21.37:g.47639448G>T	ENSP00000380837:p.Leu197Met	NA	D3DSN0|Q8IYL6|Q9UEZ1	37	CCDS13733.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120599	0.56613	.	.	ENSG00000160285	ENST00000356396;ENST00000457828;ENST00000397728;ENST00000522411;ENST00000450351	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	4.62	0.586	0.17434	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.000000	0.64402	D	0.000002	T	0.77565	0.4149	M	0.87547	2.89	0.49483	D	0.999797	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76418	-0.2966	10	0.54805	T	0.06	.	9.4085	0.38477	0.3965:0.0:0.6035:0.0	.	186;197	E9PEI9;P48449	.;ERG7_HUMAN	M	197;117;197;186;198	ENSP00000348762:L197M;ENSP00000409191:L117M;ENSP00000380837:L197M;ENSP00000429133:L186M;ENSP00000391368:L198M	ENSP00000348762:L197M	L	-	1	2	LSS	46463876	1.000000	0.71417	0.984000	0.44739	0.921000	0.55340	1.199000	0.32235	0.173000	0.19788	-0.140000	0.14226	CTG	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207274.2		-	ENST00000397728.3	Missense_Mutation	SNP	21 : 47639448 - 47639448 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	227	20
COL16A1	1307	broad.mit.edu	37	1	32133784	32133784	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32133784C>A	ENST00000373672.3	-	51	3801	c.3285G>T	c.(3283-3285)acG>acT	p.T1095T	COL16A1_ENST00000271069.6_Silent_p.T1095T	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1095	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CTGGGGGGCCCGTGGCACCTG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(143;498 1786 21362 25193 36625)							NA				0													56	64	61			NA	NA	1		NA											NA				32133784		1883	4109	5992	SO:0001819	synonymous_variant			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636	1307	1307		Collagens	2193	protein-coding gene	gene with protein product		120326			NA	1631157	Standard	NM_001856	NM_001856	NA	Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.3285G>T	1.37:g.32133784C>A		NA	Q16593|Q59F89|Q71RG9	37	CCDS41297.1																																																																																			COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000011057.2		-	ENST00000373672.3	Silent	SNP	1 : 32133784 - 32133784 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	322	32
DUOX1	53905	broad.mit.edu	37	15	45453117	45453117	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45453117G>T	ENST00000321429.4	+	30	4192	c.3785G>T	c.(3784-3786)gGc>gTc	p.G1262V	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Missense_Mutation_p.G908V|DUOX1_ENST00000389037.3_Missense_Mutation_p.G1262V	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1262	Ferric oxidoreductase.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		ATCTATGGGGGCGACAAGCTG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	120	126			NA	NA	15		NA											NA				45453117		2198	4298	6496	SO:0001583	missense			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857	53905	53905		EF-hand domain containing	3062	protein-coding gene	gene with protein product	NADPH thyroid oxidase 1, flavoprotein NADPH oxidase, nicotinamide adenine dinucleotide phosphate oxidase	606758			NA	10806195	Standard	NM_017434	XM_005254463	NA	Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3785G>T	15.37:g.45453117G>T	ENSP00000317997:p.Gly1262Val	NA	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	37	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.487774	0.26686	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.85773	-2.03;-2.03	3.47	3.47	0.39725	.	0.341780	0.30869	N	0.008712	T	0.78729	0.4329	L	0.49256	1.55	0.51767	D	0.999938	B	0.31174	0.311	B	0.29524	0.103	T	0.74216	-0.3737	10	0.15952	T	0.53	-26.5883	12.8006	0.57584	0.0:0.0:1.0:0.0	.	1262	Q9NRD9	DUOX1_HUMAN	V	1262	ENSP00000317997:G1262V;ENSP00000373689:G1262V	ENSP00000317997:G1262V	G	+	2	0	DUOX1	43240409	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	3.581000	0.53914	1.920000	0.55613	0.462000	0.41574	GGC	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416251.1		+	ENST00000321429.4	Missense_Mutation	SNP	15 : 45453117 - 45453117 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	547	112
APOB	338	broad.mit.edu	37	2	21250864	21250864	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21250864G>A	ENST00000233242.1	-	14	2030	c.1903C>T	c.(1903-1905)Cgg>Tgg	p.R635W	APOB_ENST00000399256.4_Missense_Mutation_p.R635W	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	635	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.R635W(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGATAGTTCCGAGAGAATTTT	0.368		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)											117	121	120			NA	NA	2		NA											NA				21250864		2203	4300	6503	SO:0001583	missense			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674	338	338		Apolipoproteins	603	protein-coding gene	gene with protein product		107730	apolipoprotein B (including Ag(x) antigen)		NA		Standard		NM_000384	NA	Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.1903C>T	2.37:g.21250864G>A	ENSP00000233242:p.Arg635Trp	NA	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827089	0.71143	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.23950	1.88;1.88	5.85	4.0	0.46444	Lipid transport protein, beta-sheet shell (1);Lipid transport protein, N-terminal (1);Vitellinogen, open beta-sheet (1);Vitellinogen, superhelical (2);	0.163734	0.38492	N	0.001671	T	0.52025	0.1709	M	0.81239	2.535	0.39492	D	0.96806	D	0.89917	1.0	D	0.67103	0.949	T	0.62172	-0.6910	10	0.87932	D	0	.	15.4125	0.74937	0.0:0.0:0.746:0.254	.	635	P04114	APOB_HUMAN	W	635	ENSP00000233242:R635W;ENSP00000382200:R635W	ENSP00000233242:R635W	R	-	1	2	APOB	21104369	0.987000	0.35691	1.000000	0.80357	0.706000	0.40770	2.281000	0.43452	0.892000	0.36259	0.655000	0.94253	CGG	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207571.1		-	ENST00000233242.1	Missense_Mutation	SNP	2 : 21250864 - 21250864 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	844	140
RYR1	6261	broad.mit.edu	37	19	38931486	38931486	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38931486G>T	ENST00000355481.4	+	2	278	c.147G>T	c.(145-147)gaG>gaT	p.E49D	RYR1_ENST00000359596.3_Missense_Mutation_p.E49D|RYR1_ENST00000360985.3_Missense_Mutation_p.E49D	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	49					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)	GCTTCCTGGAGCCCACTAGCA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	18	18			NA	NA	19		NA											NA				38931486		2196	4285	6481	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.147G>T	19.37:g.38931486G>T	ENSP00000347667:p.Glu49Asp	NA	Q16314|Q16368|Q9NPK1|Q9P1U4	37	CCDS42563.1	.	.	.	.	.	.	.	.	.	.	g	12.53	1.966575	0.34659	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.98602	-5.02;-5.02;-5.02	4.81	3.77	0.43336	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.000000	0.64402	U	0.000002	D	0.98541	0.9513	M	0.83953	2.67	0.34988	D	0.754759	D;D	0.76494	0.995;0.999	D;D	0.75020	0.975;0.985	D	0.99942	1.1427	10	0.87932	D	0	.	6.8359	0.23935	0.2168:0.0:0.7832:0.0	.	49;49	P21817-2;P21817	.;RYR1_HUMAN	D	49	ENSP00000352608:E49D;ENSP00000347667:E49D;ENSP00000354254:E49D	ENSP00000347667:E49D	E	+	3	2	RYR1	43623326	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	0.815000	0.27253	0.991000	0.38814	0.556000	0.70494	GAG	RYR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461017.2		+	ENST00000355481.4	Missense_Mutation	SNP	19 : 38931486 - 38931486 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	146	24
HDAC9	9734	broad.mit.edu	37	7	18687510	18687510	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18687510A>G	ENST00000524023.1	+	8	1103	c.898A>G	c.(898-900)Agc>Ggc	p.S300G	HDAC9_ENST00000406072.1_Missense_Mutation_p.S364G|HDAC9_ENST00000405010.3_Missense_Mutation_p.S377G|HDAC9_ENST00000456174.2_Missense_Mutation_p.S349G|HDAC9_ENST00000406451.4_Missense_Mutation_p.S377G|HDAC9_ENST00000432645.2_Missense_Mutation_p.S377G|HDAC9_ENST00000428307.2_Missense_Mutation_p.S333G|HDAC9_ENST00000401921.1_Missense_Mutation_p.S336G|HDAC9_ENST00000417496.2_Missense_Mutation_p.S375G|HDAC9_ENST00000441542.2_Missense_Mutation_p.S380G	NM_001204147.1	NP_001191076.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	377	Interaction with MAPK10 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GGCATCTTCCAGCCACCCTCA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	41	40			NA	NA	7		NA											NA				18687510		2066	4215	6281	SO:0001583	missense			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052	9734	9734			14065	protein-coding gene	gene with protein product		606543			NA	10523670, 10487760	Standard		NM_178425	NA	Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000524023.1:c.898A>G	7.37:g.18687510A>G	ENSP00000430036:p.Ser300Gly	NA	A7E2F3|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	37	CCDS56468.1	.	.	.	.	.	.	.	.	.	.	A	4.986	0.183198	0.09495	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T	0.57907	0.95;0.97;0.38;0.96;0.96;0.37;0.37;0.38;0.96;0.96	5.64	3.28	0.37604	.	0.269718	0.32640	N	0.005823	T	0.30198	0.0757	N	0.16656	0.425	0.23386	N	0.997783	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.10296	0.0;0.0;0.0;0.001;0.0;0.001;0.0;0.002;0.001;0.0;0.0;0.001;0.0;0.003	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.06405	0.0;0.0;0.0;0.001;0.0;0.002;0.0;0.002;0.001;0.0;0.0;0.001;0.001;0.001	T	0.11966	-1.0566	10	0.20519	T	0.43	-15.7169	6.3135	0.21178	0.7234:0.1346:0.142:0.0	.	300;349;377;364;375;377;380;336;380;377;349;377;377;355	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q9UKV0-2;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	G	375;378;377;377;333;364;336;377;380;349;300;377	ENSP00000401669:S375G;ENSP00000384382:S377G;ENSP00000384657:S377G;ENSP00000395655:S333G;ENSP00000384017:S364G;ENSP00000383912:S336G;ENSP00000410337:S377G;ENSP00000408617:S380G;ENSP00000388568:S349G;ENSP00000430036:S300G	ENSP00000262069:S378G	S	+	1	0	HDAC9	18654035	0.128000	0.22383	0.970000	0.41538	0.081000	0.17604	0.574000	0.23714	0.963000	0.38082	0.477000	0.44152	AGC	HDAC9-022	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376089.1		+	ENST00000524023.1	Missense_Mutation	SNP	7 : 18687510 - 18687510 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	116	17
PRC1	9055	broad.mit.edu	37	15	91512344	91512344	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91512344G>A	ENST00000394249.3	-	14	1833	c.1756C>T	c.(1756-1758)Ccg>Tcg	p.P586S	PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000361188.5_Intron|PRC1_ENST00000442656.2_Intron|PRC1-AS1_ENST00000556200.1_RNA|PRC1_ENST00000361919.3_Intron	NM_003981.3	NP_003972	O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	586	Unstructured, Arg/Lys rich.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					GAGAGGGACGGATCCTTCTAA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	87	95			NA	NA	15		NA											NA				91512344		2198	4298	6496	SO:0001583	missense			AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901	9055	9055			9341	protein-coding gene	gene with protein product	anaphase spindle elongation 1 homolog (S. cerevisiae)	603484			NA	9885575	Standard	NM_003981	NM_003981	NA	Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000394249.3:c.1756C>T	15.37:g.91512344G>A	ENSP00000377793:p.Pro586Ser	NA	A6NC44|B4DLR1|Q9BSB6	37	CCDS32334.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662517	0.67700	.	.	ENSG00000198901	ENST00000394249;ENST00000555455	T	0.32023	1.47	5.97	5.05	0.67936	.	0.192367	0.32970	N	0.005440	T	0.27205	0.0667	N	0.22421	0.69	0.80722	D	1	P	0.51449	0.945	P	0.54460	0.753	T	0.02202	-1.1196	10	0.07325	T	0.83	-15.7032	10.1602	0.42847	0.0881:0.0:0.9119:0.0	.	586	O43663	PRC1_HUMAN	S	586;189	ENSP00000377793:P586S	ENSP00000377793:P586S	P	-	1	0	PRC1	89313348	0.999000	0.42202	0.968000	0.41197	0.959000	0.62525	2.695000	0.47043	2.851000	0.98039	0.644000	0.83932	CCG	PRC1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414757.1		-	ENST00000394249.3	Missense_Mutation	SNP	15 : 91512344 - 91512344 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	191	27
ACADL	33	broad.mit.edu	37	2	211074960	211074960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211074960G>A	ENST00000233710.3	-	5	790	c.563C>T	c.(562-564)gCt>gTt	p.A188V	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	188					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		ATCCTTTTTAGCATTTGTTTT	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													173	170	171			NA	NA	2		NA											NA				211074960		2203	4300	6503	SO:0001583	missense			M74096	CCDS2389.1	2q34	2012-07-13	2010-04-30		ENSG00000115361	ENSG00000115361	33	33	1.3.99.13		88	protein-coding gene	gene with protein product		609576	acyl-Coenzyme A dehydrogenase, long chain		NA	1774065	Standard	NM_001608	NM_001608	NA	Approved	LCAD, ACAD4	uc002vdz.4	P28330	OTTHUMG00000132989	ENST00000233710.3:c.563C>T	2.37:g.211074960G>A	ENSP00000233710:p.Ala188Val	NA	B2R8T3|Q8IUN8	37	CCDS2389.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064141	0.93898	.	.	ENSG00000115361	ENST00000233710	D	0.99814	-6.89	5.33	5.33	0.75918	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97008	0.9734	10	0.87932	D	0	.	19.0113	0.92874	0.0:0.0:1.0:0.0	.	188	P28330	ACADL_HUMAN	V	188	ENSP00000233710:A188V	ENSP00000233710:A188V	A	-	2	0	ACADL	210783205	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.176000	0.94839	2.497000	0.84241	0.563000	0.77884	GCT	ACADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256561.2		-	ENST00000233710.3	Missense_Mutation	SNP	2 : 211074960 - 211074960 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	904	219
CD79B	974	broad.mit.edu	37	17	62007651	62007651	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62007651G>A	ENST00000006750.3	-	3	305	c.213C>T	c.(211-213)tcC>tcT	p.S71S	CD79B_ENST00000392795.3_Silent_p.S72S|CD79B_ENST00000349817.2_Intron	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	71	Ig-like V-type.				cell surface receptor linked signaling pathway|immune response	Golgi apparatus|integral to plasma membrane|nucleus	transmembrane receptor activity	p.S71S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						TCACATTGCCGGAGGCGCTGT	0.567		NA	Mis, O		DLBCL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		17	17q23	974	CD79b molecule, immunoglobulin-associated beta		L	1	Substitution - coding silent(1)	prostate(1)											96	83	88			NA	NA	17		NA											NA				62007651		2203	4300	6503	SO:0001819	synonymous_variant			L27587	CCDS11655.1, CCDS11656.1, CCDS42372.1	17q23	2014-09-17	2006-03-28			ENSG00000007312	NA	974		CD molecules, Immunoglobulin superfamily / V-set domain containing	1699	protein-coding gene	gene with protein product		147245	CD79B antigen (immunoglobulin-associated beta)	IGB	NA	9545642	Standard		XM_005257858	NA	Approved	B29	uc002jdp.1	P40259		ENST00000006750.3:c.213C>T	17.37:g.62007651G>A		NA	Q53FS2|Q9BU06	37	CCDS11655.1																																																																																			CD79B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417711.1		-	ENST00000006750.3	Silent	SNP	17 : 62007651 - 62007651 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	248	35
SYPL1	6856	broad.mit.edu	37	7	105739626	105739626	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:105739626C>A	ENST00000455385.2	-	2	294	c.172G>T	c.(172-174)Gct>Tct	p.A58S	SYPL1_ENST00000470347.1_Missense_Mutation_p.A58S|SYPL1_ENST00000011473.2_Missense_Mutation_p.A76S	NM_182715.2	NP_874384.1	Q16563	SYPL1_HUMAN	synaptophysin-like 1	76	MARVEL.				synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						CCAAAAGTAGCTGTAACAGTT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	103	102			NA	NA	7		NA											NA				105739626		2203	4300	6503	SO:0001583	missense				CCDS5736.1, CCDS47685.1	7q22.2	2005-05-24	2005-05-24	2005-05-24	ENSG00000008282	ENSG00000008282	NA	6856			11507	protein-coding gene	gene with protein product			synaptophysin-like protein	SYPL	NA		Standard		NM_006754	NA	Approved		uc003vdp.4	Q16563	OTTHUMG00000157587	ENST00000455385.2:c.172G>T	7.37:g.105739626C>A	ENSP00000388336:p.Ala58Ser	NA	Q96AR8	37	CCDS47685.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196287	0.78902	.	.	ENSG00000008282	ENST00000455385;ENST00000011473;ENST00000470347	T;T;T	0.33438	1.43;1.41;1.45	5.08	5.08	0.68730	Marvel (1);MARVEL-like domain (1);	0.000000	0.85682	D	0.000000	T	0.57975	0.2090	M	0.84326	2.69	0.80722	D	1	D	0.63046	0.992	D	0.63283	0.913	T	0.64550	-0.6381	10	0.72032	D	0.01	-1.3006	17.6082	0.88045	0.0:1.0:0.0:0.0	.	76	Q16563	SYPL1_HUMAN	S	58;76;58	ENSP00000388336:A58S;ENSP00000011473:A76S;ENSP00000419070:A58S	ENSP00000011473:A76S	A	-	1	0	SYPL1	105526862	1.000000	0.71417	0.995000	0.50966	0.597000	0.36814	4.100000	0.57762	2.525000	0.85131	0.557000	0.71058	GCT	SYPL1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349222.1		-	ENST00000455385.2	Missense_Mutation	SNP	7 : 105739626 - 105739626 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	487	13
UBR5	51366	broad.mit.edu	37	8	103274267	103274267	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103274267G>T	ENST00000521922.1	-	55	8221	c.7697C>A	c.(7696-7698)cCt>cAt	p.P2566H	UBR5_ENST00000520539.1_Missense_Mutation_p.P2573H|UBR5_ENST00000518205.1_Missense_Mutation_p.P301H|UBR5_ENST00000220959.4_Missense_Mutation_p.P2572H			O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2573	HECT.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ATACATTACAGGATCAAAAAA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(131;96 1741 5634 7352 27489)							NA				0													96	92	93			NA	NA	8		NA											NA				103274267		2203	4300	6503	SO:0001583	missense			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517	51366	51366		Ubiquitin protein ligase E3 component n-recognins	16806	protein-coding gene	gene with protein product		608413	E3 ubiquitin protein ligase, HECT domain containing, 1	EDD1	NA	10030672, 16055722	Standard	NM_015902	NM_015902	NA	Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000521922.1:c.7697C>A	8.37:g.103274267G>T	ENSP00000427819:p.Pro2566His	NA	B2RP24|O94970|Q9NPL3	37		.	.	.	.	.	.	.	.	.	.	G	22.5	4.301251	0.81136	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	5.4	5.4	0.78164	HECT (4);	0.000000	0.85682	D	0.000000	T	0.78375	0.4273	M	0.87269	2.87	0.52501	D	0.999951	D;D	0.65815	0.995;0.995	D;D	0.79784	0.993;0.993	T	0.81309	-0.0991	10	0.59425	D	0.04	.	14.1163	0.65156	0.0:0.0:0.8496:0.1504	.	2566;2573	E7EMW7;O95071	.;UBR5_HUMAN	H	2573;2572;301;2566	ENSP00000429084:P2573H;ENSP00000220959:P2572H;ENSP00000428693:P301H;ENSP00000427819:P2566H	ENSP00000220959:P2572H	P	-	2	0	UBR5	103343443	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.496000	0.81526	2.553000	0.86117	0.580000	0.79431	CCT	UBR5-003	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000380199.1		-	ENST00000521922.1	Missense_Mutation	SNP	8 : 103274267 - 103274267 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	362	75
MLLT1	4298	broad.mit.edu	37	19	6213356	6213356	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6213356G>A	ENST00000252674.7	-	11	1706	c.1543C>T	c.(1543-1545)Ctg>Ttg	p.L515L	MLLT1_ENST00000585588.1_5'UTR	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	515					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						ACCTGCTGCAGCACGTTGCGC	0.721		NA	T	MLL	AL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		19	19p13.3	4298	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)		L	0													53	63	60			NA	NA	19		NA											NA				6213356		2202	4297	6499	SO:0001819	synonymous_variant				CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382	4298	4298			7134	protein-coding gene	gene with protein product		159556	myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1		NA		Standard	NM_005934	XM_005259561	NA	Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.1543C>T	19.37:g.6213356G>A		NA	Q14768	37	CCDS12160.1																																																																																			MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452909.1		-	ENST00000252674.7	Silent	SNP	19 : 6213356 - 6213356 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1099	210
ERCC1	2067	broad.mit.edu	37	19	45924573	45924573	+	Missense_Mutation	SNP	C	C	T	rs150584960		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45924573C>T	ENST00000591636.1	-	2	310	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	ERCC1_ENST00000340192.7_Missense_Mutation_p.E62K|ERCC1_ENST00000300853.3_Missense_Mutation_p.E62K|ERCC1_ENST00000589165.1_Missense_Mutation_p.E62K|ERCC1_ENST00000423698.2_Intron|ERCC1_ENST00000013807.5_Missense_Mutation_p.E62K			P07992	ERCC1_HUMAN	excision repair cross-complementation group 1	62					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		ATGGCATATTCGGCGTAGGTC	0.642		NA						Nucleotide excision repair (NER)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	LYS/GLU,LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	79	76	77		184,184,184	4.8	0.9	19	dbSNP_134	77	0,8600		0,0,4300	no	missense,missense,missense	ERCC1	NM_001166049.1,NM_001983.3,NM_202001.2	56,56,56	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	62/274,62/298,62/324	45924573	1,13005	2203	4300	6503	SO:0001583	missense				CCDS12662.1, CCDS12663.1, CCDS54279.1	19q13.32	2014-03-07	2014-03-07			ENSG00000012061	2067	2067			3433	protein-coding gene	gene with protein product		126380	excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)		NA	6462228	Standard	NM_001983	NM_001983	NA	Approved	RAD10	uc002pbs.2	P07992		ENST00000591636.1:c.184G>A	19.37:g.45924573C>T	ENSP00000468119:p.Glu62Lys	NA		37		.	.	.	.	.	.	.	.	.	.	C	14.48	2.548848	0.45383	2.27E-4	0.0	ENSG00000012061	ENST00000300853;ENST00000340192;ENST00000013807	T;T;T	0.44083	0.95;0.95;0.93	4.78	4.78	0.61160	.	0.247214	0.38272	N	0.001752	T	0.30448	0.0765	L	0.27053	0.805	0.32274	N	0.568456	D;P;D	0.59357	0.985;0.94;0.957	B;B;B	0.43155	0.41;0.269;0.225	T	0.26360	-1.0105	10	0.19147	T	0.46	-33.5429	13.6581	0.62349	0.0:1.0:0.0:0.0	.	62;62;62	Q7Z7F5;Q96S40;P07992	.;.;ERCC1_HUMAN	K	62	ENSP00000300853:E62K;ENSP00000345203:E62K;ENSP00000013807:E62K	ENSP00000013807:E62K	E	-	1	0	ERCC1	50616413	0.950000	0.32346	0.932000	0.37286	0.053000	0.15095	2.455000	0.44988	2.372000	0.80975	0.491000	0.48974	GAA	ERCC1-013	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000459547.1		-	ENST00000591636.1	Missense_Mutation	SNP	19 : 45924573 - 45924573 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	513	94
ABCA13	154664	broad.mit.edu	37	7	48259051	48259051	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48259051G>A	ENST00000435803.1	+	4	412	c.388G>A	c.(388-390)Gac>Aac	p.D130N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	130					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGGAATGATGGACAAGGCAAA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	112	114			NA	NA	7		NA											NA				48259051		1856	4099	5955	SO:0001583	missense			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869	154664	154664		ATP binding cassette transporters / subfamily A	14638	protein-coding gene	gene with protein product		607807			NA	12697998	Standard	NM_152701	NM_152701	NA	Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.388G>A	7.37:g.48259051G>A	ENSP00000411096:p.Asp130Asn	NA	Q6ZTT7|Q86WI2|Q8N248	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.391810	0.25118	.	.	ENSG00000179869	ENST00000435803	T	0.30981	1.51	5.58	3.77	0.43336	.	0.553548	0.16120	N	0.228711	T	0.27278	0.0669	L	0.47716	1.5	0.80722	D	1	B;B	0.15141	0.002;0.012	B;B	0.14578	0.003;0.011	T	0.02610	-1.1134	10	0.27785	T	0.31	.	11.5377	0.50648	0.1596:0.0:0.8404:0.0	.	130;130	Q86UQ4;Q86UQ4-2	ABCAD_HUMAN;.	N	130	ENSP00000411096:D130N	ENSP00000409268:D130N	D	+	1	0	ABCA13	48229597	0.983000	0.35010	0.864000	0.33941	0.340000	0.28889	0.453000	0.21811	0.408000	0.25621	-0.797000	0.03246	GAC	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341964.2		+	ENST00000435803.1	Missense_Mutation	SNP	7 : 48259051 - 48259051 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	552	113
ZC3H12B	340554	broad.mit.edu	37	X	64722815	64722815	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:64722815C>T	ENST00000338957.4	+	5	2304	c.2237C>T	c.(2236-2238)cCc>cTc	p.P746L	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.P735L	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	735							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CACTCCTATCCCTTGAGTAAC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	67	67			NA	NA	X		NA											NA				64722815		2184	4293	6477	SO:0001583	missense			BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053	340554	340554		Zinc fingers, CCCH-type domain containing	17407	protein-coding gene	gene with protein product	MCP induced protein 2	300889	chromosome X open reading frame 32	CXorf32	NA	18178554	Standard	XM_293334	NM_001010888	NA	Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.2237C>T	X.37:g.64722815C>T	ENSP00000340839:p.Pro746Leu	NA	B2RTQ3|Q5H9C0	37	CCDS48131.2	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344645	0.61073	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.26660	1.72;1.72	5.94	5.06	0.68205	.	0.050747	0.85682	D	0.000000	T	0.37019	0.0988	L	0.54323	1.7	0.53688	D	0.999971	D	0.63880	0.993	P	0.52109	0.69	T	0.18304	-1.0341	10	0.87932	D	0	-22.6475	13.9642	0.64199	0.1526:0.8474:0.0:0.0	.	735	Q5HYM0	ZC12B_HUMAN	L	746;735;682	ENSP00000340839:P746L;ENSP00000408077:P735L	ENSP00000218172:P682L	P	+	2	0	ZC3H12B	64639540	0.943000	0.32029	1.000000	0.80357	0.996000	0.88848	3.482000	0.53186	1.200000	0.43188	0.506000	0.49869	CCC	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378734.2		+	ENST00000338957.4	Missense_Mutation	SNP	X : 64722815 - 64722815 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	153	45
MCOLN2	255231	broad.mit.edu	37	1	85431291	85431291	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85431291G>A	ENST00000370608.3	-	2	245	c.178C>T	c.(178-180)Cgc>Tgc	p.R60C	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.R32C	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	60						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		GGAATCTGGCGTCTGGCTCGG	0.413		NA											G	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	5e-04	SNP								NA				0													104	104	104			NA	NA	1		NA											NA				85431291		2203	4300	6503	SO:0001583	missense			AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898	255231	255231		Voltage-gated ion channels / Transient receptor potential cation channels	13357	protein-coding gene	gene with protein product		607399			NA	16382100	Standard	NM_153259	XM_005270719	NA	Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.178C>T	1.37:g.85431291G>A	ENSP00000359640:p.Arg60Cys	NA	A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	37	CCDS30762.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.63	3.177947	0.57692	.	.	ENSG00000153898	ENST00000370608;ENST00000284027	T;T	0.54279	0.58;0.58	5.87	2.85	0.33270	.	0.557733	0.21351	N	0.075975	T	0.31071	0.0785	L	0.47190	1.495	0.40235	D	0.977896	D	0.62365	0.991	B	0.43623	0.425	T	0.09509	-1.0671	10	0.62326	D	0.03	-28.1451	10.4417	0.44469	0.0598:0.1029:0.7311:0.1063	.	60	Q8IZK6	MCLN2_HUMAN	C	60;32	ENSP00000359640:R60C;ENSP00000284027:R32C	ENSP00000284027:R32C	R	-	1	0	MCOLN2	85203879	0.914000	0.31030	0.678000	0.29963	0.663000	0.39108	1.830000	0.39131	0.146000	0.19002	-0.797000	0.03246	CGC	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000027567.2		-	ENST00000370608.3	Missense_Mutation	SNP	1 : 85431291 - 85431291 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	291	26
ZNF208	7757	broad.mit.edu	37	19	22154655	22154655	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22154655C>T	ENST00000397126.4	-	4	3329	c.3181G>A	c.(3181-3183)Gaa>Aaa	p.E1061K	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208	NA										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTGCCACATTCTTCACATTTG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	129	129			NA	NA	19		NA											NA				22154655		2140	4246	6386	SO:0001583	missense			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321	7757	7757		Zinc fingers, C2H2-type, -	12999	protein-coding gene	gene with protein product	zinc finger protein 95	603977			NA	9724325	Standard	NM_007153	NM_007153	NA	Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.3181G>A	19.37:g.22154655C>T	ENSP00000380315:p.Glu1061Lys	NA		37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638835	0.29157	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.07327	3.2	2.59	-0.806	0.10875	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05593	0.0147	.	.	.	0.09310	N	1	P	0.40515	0.719	B	0.34038	0.174	T	0.35475	-0.9787	8	0.48119	T	0.1	.	7.6796	0.28505	0.0:0.6902:0.1824:0.1274	.	933	O43345	ZN208_HUMAN	K	1061;933	ENSP00000380315:E1061K	ENSP00000380315:E1061K	E	-	1	0	ZNF208	21946495	0.000000	0.05858	0.000000	0.03702	0.255000	0.26057	-0.696000	0.05104	0.119000	0.18210	0.297000	0.19635	GAA	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464302.1		-	ENST00000397126.4	Missense_Mutation	SNP	19 : 22154655 - 22154655 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	800	146
ATP6V1C2	245973	broad.mit.edu	37	2	10918751	10918751	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10918751G>T	ENST00000381661.3	+	11	988	c.879G>T	c.(877-879)tgG>tgT	p.W293C	ATP6V1C2_ENST00000272238.4_Missense_Mutation_p.W339C	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	339					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		TCATTGCCTGGATCCACATCA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(188;1042 2136 10807 16813 47705)							NA				0													135	123	127			NA	NA	2		NA											NA				10918751		2203	4300	6503	SO:0001583	missense			AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882	245973	245973		ATPases / V-type	18264	protein-coding gene	gene with protein product			ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2, ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2		NA	12384298	Standard	NM_144583	XR_426949	NA	Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000381661.3:c.879G>T	2.37:g.10918751G>T	ENSP00000371077:p.Trp293Cys	NA	Q96EL8	37	CCDS1674.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419227	0.83559	.	.	ENSG00000143882	ENST00000272238;ENST00000381661	T;T	0.51325	0.71;0.71	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.75810	0.3900	M	0.89601	3.045	0.80722	D	1	B;D	0.76494	0.172;0.999	B;D	0.70935	0.19;0.971	T	0.80120	-0.1515	10	0.72032	D	0.01	-8.0036	19.9204	0.97084	0.0:0.0:1.0:0.0	.	293;339	Q8NEY4-2;Q8NEY4	.;VATC2_HUMAN	C	339;293	ENSP00000272238:W339C;ENSP00000371077:W293C	ENSP00000272238:W339C	W	+	3	0	ATP6V1C2	10836202	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	9.773000	0.98989	2.721000	0.93114	0.491000	0.48974	TGG	ATP6V1C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206906.1		+	ENST00000381661.3	Missense_Mutation	SNP	2 : 10918751 - 10918751 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	474	102
RAG1	5896	broad.mit.edu	37	11	36596004	36596004	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:36596004G>T	ENST00000299440.5	+	2	1262	c.1150G>T	c.(1150-1152)Gag>Tag	p.E384*		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	384					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGAATCAAAAGAGATTTTTGT	0.478		NA							Familial Hemophagocytic Lymphohistiocytosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)							NA				0													44	48	46			NA	NA	11		NA											NA				36596004		2202	4298	6500	SO:0001587	stop_gained	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349	5896	5896		RING-type (C3HC4) zinc fingers	9831	protein-coding gene	gene with protein product	recombination activating protein 1, RING finger protein 74, V(D)J recombination-activating protein 1	179615			NA	1612612, 1283330	Standard	NM_000448	NM_000448	NA	Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1150G>T	11.37:g.36596004G>T	ENSP00000299440:p.Glu384*	NA	Q8NER2	37	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697658	0.88830	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	.	.	.	5.53	4.61	0.57282	.	0.169885	0.51477	D	0.000097	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.5043	0.84266	0.0:0.131:0.869:0.0	.	.	.	.	X	384	.	ENSP00000299440:E384X	E	+	1	0	RAG1	36552580	1.000000	0.71417	0.744000	0.31058	0.777000	0.43975	3.788000	0.55446	1.340000	0.45581	0.650000	0.86243	GAG	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389535.1		+	ENST00000299440.5	Nonsense_Mutation	SNP	11 : 36596004 - 36596004 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	448	84
ATP1A2	477	broad.mit.edu	37	1	160109761	160109761	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160109761G>A	ENST00000361216.3	+	22	3110	c.3021G>A	c.(3019-3021)cgG>cgA	p.R1007R	ATP1A2_ENST00000392233.3_Silent_p.R996R|ATP1A2_ENST00000459972.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	1007					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCATCCTGCGGCGGTATCCTG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	107	111			NA	NA	1		NA											NA				160109761		2203	4300	6503	SO:0001819	synonymous_variant			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	477	477	3.6.3.9	ATPases / P-type	800	protein-coding gene	gene with protein product	sodium/potassium-transporting ATPase subunit alpha-2, sodium pump subunit alpha-2, sodium-potassium ATPase catalytic subunit alpha-2	182340	migraine, hemiplegic 2, ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide	MHP2	NA	9403481	Standard	NM_000702	NM_000702	NA	Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.3021G>A	1.37:g.160109761G>A		NA	D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	37	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	9.565	1.119542	0.20877	.	.	ENSG00000018625	ENST00000447527	.	.	.	4.37	2.46	0.29980	.	.	.	.	.	T	0.36220	0.0959	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22068	-1.0227	4	.	.	.	.	4.6645	0.12659	0.1969:0.1822:0.6209:0.0	.	.	.	.	D	701	.	.	G	+	2	0	ATP1A2	158376385	0.028000	0.19301	0.998000	0.56505	0.942000	0.58702	-0.701000	0.05075	0.564000	0.29238	0.655000	0.94253	GGC	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060642.2		+	ENST00000361216.3	Silent	SNP	1 : 160109761 - 160109761 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	615	155
SERAC1	84947	broad.mit.edu	37	6	158579383	158579383	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158579383C>T	ENST00000367104.3	-	2	144	c.13G>A	c.(13-15)Gct>Act	p.A5T	SERAC1_ENST00000367102.2_Missense_Mutation_p.A5T|SERAC1_ENST00000367101.1_Missense_Mutation_p.A5T|SERAC1_ENST00000607000.1_Missense_Mutation_p.A5T	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	5					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		ACGCAATAAGCAGCCAGGGAC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	102	103			NA	NA	6		NA											NA				158579383		2203	4300	6503	SO:0001583	missense			BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335	84947	84947			21061	protein-coding gene	gene with protein product		614725			NA		Standard	NM_032861	NM_032861	NA	Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.13G>A	6.37:g.158579383C>T	ENSP00000356071:p.Ala5Thr	NA	Q49AT1|Q5VTX3|Q6PKF3	37	CCDS5255.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.884059	0.72410	.	.	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000367101	T;T;T	0.41400	1.0;1.0;1.0	4.79	3.92	0.45320	.	0.217298	0.47852	D	0.000220	T	0.32585	0.0834	M	0.73598	2.24	0.45733	D	0.998636	P	0.49635	0.926	P	0.46917	0.531	T	0.17258	-1.0375	10	0.87932	D	0	-13.9732	7.8583	0.29495	0.1606:0.752:0.0:0.0874	.	5	Q96JX3	SRAC1_HUMAN	T	5	ENSP00000356069:A5T;ENSP00000356071:A5T;ENSP00000356068:A5T	ENSP00000356068:A5T	A	-	1	0	SERAC1	158499371	0.998000	0.40836	0.977000	0.42913	0.996000	0.88848	0.717000	0.25851	-0.016000	0.14127	0.460000	0.39030	GCT	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042862.1		-	ENST00000367104.3	Missense_Mutation	SNP	6 : 158579383 - 158579383 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	389	61
ARFGEF1	10565	broad.mit.edu	37	8	68113742	68113742	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68113742G>A	ENST00000262215.3	-	37	5616	c.5227C>T	c.(5227-5229)Cgc>Tgc	p.R1743C	ARFGEF1_ENST00000517955.1_5'UTR|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.R1197C|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.R581C	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1743					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GCACTAACGCGGCTCTCATCC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	74	77			NA	NA	8		NA											NA				68113742		2203	4300	6503	SO:0001583	missense			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777	10565	10565			15772	protein-coding gene	gene with protein product		604141			NA	10212200, 8917509	Standard	NM_006421	NM_006421	NA	Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.5227C>T	8.37:g.68113742G>A	ENSP00000262215:p.Arg1743Cys	NA	Q9NV46|Q9UFV2|Q9UNL0	37	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475915	0.84640	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518789;ENST00000518230	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.42	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.65606	0.2707	M	0.69823	2.125	0.80722	D	1	D;D;P;D	0.89917	1.0;0.999;0.5;0.999	D;P;B;P	0.63488	0.915;0.776;0.102;0.841	T	0.70876	-0.4753	10	0.87932	D	0	.	15.057	0.71921	0.0:0.0:0.8524:0.1476	.	1743;1221;567;1197	Q9Y6D6;Q59FY5;B3KMS9;E5RIF2	BIG1_HUMAN;.;.;.	C	1197;1743;74;581	ENSP00000428429:R1197C;ENSP00000262215:R1743C;ENSP00000429560:R74C;ENSP00000430891:R581C	ENSP00000262215:R1743C	R	-	1	0	ARFGEF1	68276296	1.000000	0.71417	0.990000	0.47175	0.910000	0.53928	4.568000	0.60857	1.372000	0.46190	0.650000	0.86243	CGC	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379441.4		-	ENST00000262215.3	Missense_Mutation	SNP	8 : 68113742 - 68113742 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	343	14
TTLL8	164714	broad.mit.edu	37	22	50479664	50479664	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50479664G>T	ENST00000266182.6	-	8	872	c.873C>A	c.(871-873)atC>atA	p.I291I	TTLL8_ENST00000440475.1_Intron					tubulin tyrosine ligase-like family, member 8	NA										NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		TAACCTTCTGGATTTTGAAGA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	160	156			NA	NA	22		NA											NA				50479664		1955	4149	6104	SO:0001819	synonymous_variant					22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892	164714	164714		Tubulin tyrosine ligase-like family	34000	protein-coding gene	gene with protein product					NA	15890843	Standard	NM_001080447	XM_003403745	NA	Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.873C>A	22.37:g.50479664G>T		NA		37																																																																																				TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding			-	ENST00000266182.6	Silent	SNP	22 : 50479664 - 50479664 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	759	140
BTBD11	121551	broad.mit.edu	37	12	107937887	107937887	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107937887G>A	ENST00000280758.5	+	3	1989	c.1461G>A	c.(1459-1461)gaG>gaA	p.E487E	BTBD11_ENST00000490090.2_Silent_p.E487E|BTBD11_ENST00000420571.2_Silent_p.E487E	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	487						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CCAACGTGGAGCCTTCCAAAG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	51	53			NA	NA	12		NA											NA				107937887		2203	4300	6503	SO:0001819	synonymous_variant			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136	121551	121551		BTB/POZ domain containing, Ankyrin repeat domain containing	23844	protein-coding gene	gene with protein product					NA		Standard	NM_152322	XM_005268645	NA	Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1461G>A	12.37:g.107937887G>A		NA	A4FU41|C9J019|C9JK80|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	37	CCDS31893.1																																																																																			BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318003.1		+	ENST00000280758.5	Silent	SNP	12 : 107937887 - 107937887 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	231	53
TTLL5	23093	broad.mit.edu	37	14	76248892	76248892	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76248892G>T	ENST00000557636.1	+	26	2835	c.2620G>T	c.(2620-2622)Gaa>Taa	p.E874*	TTLL5_ENST00000556893.1_Nonsense_Mutation_p.E411*|TTLL5_ENST00000554510.1_Nonsense_Mutation_p.E369*|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000298832.9_Nonsense_Mutation_p.E860*			Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	860					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		ACAGACGACAGAAATTCATTC	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	96	97			NA	NA	14		NA											NA				76248892		2203	4300	6503	SO:0001587	stop_gained			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685	23093	23093		Tubulin tyrosine ligase-like family	19963	protein-coding gene	gene with protein product		612268	KIAA0998	KIAA0998	NA	15890843	Standard	NM_015072	NM_015072	NA	Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000557636.1:c.2620G>T	14.37:g.76248892G>T	ENSP00000450713:p.Glu874*	NA	B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	37		.	.	.	.	.	.	.	.	.	.	G	37	6.315407	0.97467	.	.	ENSG00000119685	ENST00000418433;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	.	.	.	5.83	5.83	0.93111	.	3.520550	0.00496	N	0.000159	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	15.6339	0.76933	0.0:0.0:1.0:0.0	.	.	.	.	X	547;874;860;411;411;369	.	ENSP00000298832:E860X	E	+	1	0	TTLL5	75318645	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	4.372000	0.59530	2.770000	0.95276	0.655000	0.94253	GAA	TTLL5-016	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000414451.1		+	ENST00000557636.1	Nonsense_Mutation	SNP	14 : 76248892 - 76248892 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	272	52
ABCC4	10257	broad.mit.edu	37	13	95813533	95813533	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95813533C>T	ENST00000376887.4	-	19	2479	c.2365G>A	c.(2365-2367)Gtc>Atc	p.V789I	ABCC4_ENST00000412704.1_Missense_Mutation_p.V742I|ABCC4_ENST00000431522.1_Missense_Mutation_p.V789I|ABCC4_ENST00000536256.1_Missense_Mutation_p.V714I	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	789	ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TTAACAAGGACGTAGAATACC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	88	89			NA	NA	13		NA											NA				95813533		2203	4300	6503	SO:0001583	missense			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257	10257	10257		ATP binding cassette transporters / subfamily C	55	protein-coding gene	gene with protein product	canalicular multispecific organic anion transporter (ABC superfamily), bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4), multidrug resistance-associated protein 4, multispecific organic anion transporter B	605250			NA	8894702, 9661885	Standard	NM_005845	NM_005845	NA	Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.2365G>A	13.37:g.95813533C>T	ENSP00000366084:p.Val789Ile	NA	A9Z1Z7|Q8IZN6|Q8NEW8|Q9Y6J2	37	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845818	0.32606	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	5.45	2.77	0.32553	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.171789	0.51477	N	0.000091	T	0.76630	0.4014	N	0.16266	0.395	0.38575	D	0.950049	B;B;B;B	0.18013	0.001;0.005;0.025;0.006	B;B;B;B	0.20955	0.004;0.002;0.032;0.009	T	0.65001	-0.6274	10	0.06236	T	0.91	.	11.3749	0.49722	0.0:0.8098:0.0:0.1902	.	714;742;789;789	B7Z3Q7;O15439-2;Q8IVZ4;O15439	.;.;.;MRP4_HUMAN	I	742;789;714;789	ENSP00000388657:V742I;ENSP00000366084:V789I;ENSP00000442024:V714I;ENSP00000398562:V789I	ENSP00000366084:V789I	V	-	1	0	ABCC4	94611534	0.917000	0.31117	0.897000	0.35233	0.982000	0.71751	1.786000	0.38694	0.344000	0.23847	0.650000	0.86243	GTC	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045478.2		-	ENST00000376887.4	Missense_Mutation	SNP	13 : 95813533 - 95813533 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	39
HOXD12	3238	broad.mit.edu	37	2	176965333	176965333	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176965333G>A	ENST00000406506.2	+	2	730	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K	HOXD12_ENST00000404162.2_Missense_Mutation_p.R229Q			P35452	HXD12_HUMAN	homeobox D12	220						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		GTTGGAGAACGAATTCCTCGT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	37	36			NA	NA	2		NA											NA				176965333		1963	4166	6129	SO:0001583	missense				CCDS46456.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170178	ENSG00000170178	3238	3238		Homeoboxes / ANTP class : HOXL subclass	5135	protein-coding gene	gene with protein product		142988	homeo box D12	HOX4H	NA	1675198, 1973146	Standard	NM_021193	NM_021193	NA	Approved		uc010zev.1	P35452	OTTHUMG00000150358	ENST00000406506.2:c.658G>A	2.37:g.176965333G>A	ENSP00000385586:p.Glu220Lys	NA	B5MCP0|Q9NS03	37	CCDS46456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.94|17.94	3.512092|3.512092	0.64522|0.64522	.|.	.|.	ENSG00000170178|ENSG00000170178	ENST00000406506|ENST00000404162	D|.	0.96365|.	-3.99|.	5.29|5.29	5.29|5.29	0.74685|0.74685	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83413|0.83413	0.5249|0.5249	M|M	0.82132|0.82132	2.575|2.575	0.39921|0.39921	D|D	0.974155|0.974155	D|D	0.89917|0.89917	1.0|1.0	D|D	0.91635|0.83275	0.999|0.996	D|D	0.86338|0.86338	0.1703|0.1703	10|8	0.87932|0.87932	D|D	0|0	.|.	18.9681|18.9681	0.92704|0.92704	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	220|229	P35452|B5MCD3	HXD12_HUMAN|.	K|Q	220|229	ENSP00000385586:E220K|.	ENSP00000385586:E220K|ENSP00000385132:R229Q	E|R	+|+	1|2	0|0	HOXD12|HOXD12	176673579|176673579	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.869000|9.869000	0.99810|0.99810	2.489000|2.489000	0.83994|0.83994	0.655000|0.655000	0.94253|0.94253	GAA|CGA	HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359253.2		+	ENST00000406506.2	Missense_Mutation	SNP	2 : 176965333 - 176965333 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	129	23
YBX2	51087	broad.mit.edu	37	17	7195345	7195345	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7195345C>A	ENST00000007699.5	-	3	432	c.369G>T	c.(367-369)caG>caT	p.Q123H	YBX2_ENST00000570627.1_5'UTR	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	123	CSD.|Required for cytoplasmic retention (By similarity).				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						TAGCTCTTACCTGGTGAACAA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	119	129			NA	NA	17		NA											NA				7195345		2203	4300	6503	SO:0001630	splice_region_variant			AF096834	CCDS11098.1	17p13.1	2013-12-20			ENSG00000006047	ENSG00000006047	51087	51087			17948	protein-coding gene	gene with protein product		611447			NA	10100484, 9780336	Standard	NM_015982	NM_015982	NA	Approved	MSY2, CSDA3	uc002gfq.2	Q9Y2T7	OTTHUMG00000177992	ENST00000007699.5:c.369+1G>T	17.37:g.7195345C>A		NA	D3DTP1|Q8N4P0	37	CCDS11098.1	.	.	.	.	.	.	.	.	.	.	C	34	5.327992	0.95733	.	.	ENSG00000006047	ENST00000007699	T	0.35048	1.33	5.05	5.05	0.67936	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (2);Nucleic acid-binding, OB-fold (1);Cold-shock conserved site (1);	0.202863	0.44902	D	0.000411	T	0.54287	0.1849	L	0.49256	1.55	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.46359	-0.9197	9	.	.	.	-24.0131	16.7077	0.85376	0.0:1.0:0.0:0.0	.	123	Q9Y2T7	YBOX2_HUMAN	H	123	ENSP00000007699:Q123H	.	Q	-	3	2	YBX2	7136069	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.905000	0.75714	2.744000	0.94065	0.561000	0.74099	CAG	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000440172.2	Missense_Mutation	-	ENST00000007699.5	Splice_Site	SNP	17 : 7195345 - 7195345 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	435	78
MYH7	4625	broad.mit.edu	37	14	23895227	23895227	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23895227C>T	ENST00000355349.3	-	19	2270	c.2108G>A	c.(2107-2109)cGc>cAc	p.R703H		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	703	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R703H(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCTGCAGATGCGGATGCCCTC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	ovary(1)											58	54	56			NA	NA	14		NA											NA				23895227		2203	4300	6503	SO:0001583	missense			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054	4625	4625		Myosins / Myosin superfamily : Class II	7577	protein-coding gene	gene with protein product		160760	myopathy, distal 1, myosin, heavy polypeptide 7, cardiac muscle, beta	CMH1, MPD1	NA	2494889, 8483915, 15322983	Standard	NM_000257	XM_005267696	NA	Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2108G>A	14.37:g.23895227C>T	ENSP00000347507:p.Arg703His	NA	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	37	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	36	5.695949	0.96802	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.90732	-2.72	5.03	5.03	0.67393	Myosin head, motor domain (2);	.	.	.	.	D	0.97198	0.9084	H	0.98612	4.28	0.80722	D	1	D	0.60575	0.988	D	0.63113	0.911	D	0.98737	1.0715	9	0.87932	D	0	.	18.5432	0.91037	0.0:1.0:0.0:0.0	.	703	P12883	MYH7_HUMAN	H	703	ENSP00000347507:R703H	ENSP00000347507:R703H	R	-	2	0	MYH7	22965067	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.399000	0.79935	2.612000	0.88384	0.655000	0.94253	CGC	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071798.3		-	ENST00000355349.3	Missense_Mutation	SNP	14 : 23895227 - 23895227 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	233	28
KCNN3	3782	broad.mit.edu	37	1	154744644	154744644	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154744644C>T	ENST00000271915.4	-	3	1570	c.1255G>A	c.(1255-1257)Gcc>Acc	p.A419T	KCNN3_ENST00000361147.4_Missense_Mutation_p.A114T|KCNN3_ENST00000358505.2_Missense_Mutation_p.A106T	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)			ATGACTCGGGCGATCAGGTAC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	88	95			NA	NA	1		NA											NA				154744644		2203	4300	6503	SO:0001583	missense			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.1255G>A	1.37:g.154744644C>T	ENSP00000271915:p.Ala419Thr	NA	B1ANX0|O43517|Q8WXG7	37	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.729773	0.89390	.	.	ENSG00000143603	ENST00000361147;ENST00000271915;ENST00000358505	T;T;T	0.23950	1.88;1.88;1.88	4.66	4.66	0.58398	.	0.000000	0.53938	D	0.000044	T	0.30448	0.0765	L	0.60455	1.87	0.52501	D	0.999951	D;D;P	0.67145	0.996;0.969;0.861	P;P;P	0.53035	0.716;0.493;0.473	T	0.08006	-1.0743	10	0.62326	D	0.03	-14.5979	17.3493	0.87318	0.0:1.0:0.0:0.0	.	425;424;114	Q6JXY2;Q9UGI6;Q9UGI6-2	.;KCNN3_HUMAN;.	T	114;419;106	ENSP00000354764:A114T;ENSP00000271915:A419T;ENSP00000351295:A106T	ENSP00000271915:A419T	A	-	1	0	KCNN3	153011268	1.000000	0.71417	0.997000	0.53966	0.946000	0.59487	7.647000	0.83462	2.413000	0.81919	0.561000	0.74099	GCC	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090688.3		-	ENST00000271915.4	Missense_Mutation	SNP	1 : 154744644 - 154744644 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	96
TACR2	6865	broad.mit.edu	37	10	71164835	71164835	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71164835C>T	ENST00000373306.4	-	5	1487	c.944G>A	c.(943-945)cGc>cAc	p.R315H	TACR2_ENST00000373307.1_Missense_Mutation_p.R103H	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	315					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	GAATCCAGAGCGAAACCTGGG	0.622		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	81	70	74		944	4.7	1	10		74	1,8599	1.2+/-3.3	0,1,4299	no	missense	TACR2	NM_001057.2	29	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	315/399	71164835	1,13005	2203	4300	6503	SO:0001583	missense				CCDS7293.1	10q22.1	2012-09-20			ENSG00000075073	ENSG00000075073	6865	6865		GPCR / Class A : Tachykinin receptors	11527	protein-coding gene	gene with protein product		162321		TAC2R, NKNAR	NA		Standard		NM_001057	NA	Approved	SKR, NK2R	uc001jpn.2	P21452	OTTHUMG00000018377	ENST00000373306.4:c.944G>A	10.37:g.71164835C>T	ENSP00000362403:p.Arg315His	NA	A8K7I1|Q4QRI5|Q8NGQ8|Q9UDE6|Q9UDE7	37	CCDS7293.1	.	.	.	.	.	.	.	.	.	.	C	32	5.121827	0.94429	0.0	1.16E-4	ENSG00000075073	ENST00000373307;ENST00000373306	T;T	0.58358	0.34;0.34	5.58	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.74238	0.3690	M	0.85630	2.765	0.58432	D	0.999999	D	0.89917	1.0	D	0.72075	0.976	T	0.78889	-0.2026	10	0.87932	D	0	.	14.8507	0.70295	0.0:0.9295:0.0:0.0705	.	315	P21452	NK2R_HUMAN	H	103;315	ENSP00000362404:R103H;ENSP00000362403:R315H	ENSP00000362403:R315H	R	-	2	0	TACR2	70834841	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.929000	0.63455	2.625000	0.88918	0.561000	0.74099	CGC	TACR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048411.1		-	ENST00000373306.4	Missense_Mutation	SNP	10 : 71164835 - 71164835 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	71
MITF	4286	broad.mit.edu	37	3	69990401	69990401	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69990401C>T	ENST00000352241.4	+	5	844	c.681C>T	c.(679-681)atC>atT	p.I227I	MITF_ENST00000394351.3_Silent_p.I120I|MITF_ENST00000472437.1_Silent_p.I175I|MITF_ENST00000314589.5_Silent_p.I211I|MITF_ENST00000531774.1_Silent_p.I64I|MITF_ENST00000394355.2_Silent_p.I202I|MITF_ENST00000448226.2_Silent_p.I227I|MITF_ENST00000314557.6_Silent_p.I120I|MITF_ENST00000328528.6_Silent_p.I226I	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	227	Transactivation.				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		ATGATGTAATCGATGACATCA	0.343		NA	A		melanoma		Waardenburg syndrome type 2, Tietz syndrome						C	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	1	EXOME	NA	NA	0.0011	SNP	Melanoma(29;269 969 31479 41502 42961)		Dom	yes		3	3p14.1	4286	microphthalmia-associated transcription factor	yes	E	0													121	114	116			NA	NA	3		NA											NA				69990401		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098	4286	4286		Basic helix-loop-helix proteins	7105	protein-coding gene	gene with protein product	homolog of mouse microphthalmia	156845	Waardenburg syndrome, type 2A	WS2A, WS2	NA	8069297, 7874167, 7951321	Standard	NM_198159	NM_198159	NA	Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000352241.4:c.681C>T	3.37:g.69990401C>T		NA	Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	37	CCDS43106.1																																																																																			MITF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313920.2		+	ENST00000352241.4	Silent	SNP	3 : 69990401 - 69990401 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	225	40
SLC26A4	5172	broad.mit.edu	37	7	107315528	107315528	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107315528T>C	ENST00000265715.3	+	6	963	c.739T>C	c.(739-741)Tac>Cac	p.Y247H		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	247					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AACCAAAAACTACAATGGAGT	0.433		NA							Pendred syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	177	178			NA	NA	7		NA											NA				107315528		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137	5172	5172		Solute carriers	8818	protein-coding gene	gene with protein product	pendrin	605646	solute carrier family 26, member 4	DFNB4	NA	9500541, 11087667	Standard	NM_000441	NM_000441	NA	Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.739T>C	7.37:g.107315528T>C	ENSP00000265715:p.Tyr247His	NA	O43170	37	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	T	9.514	1.106534	0.20632	.	.	ENSG00000091137	ENST00000265715	D	0.92348	-3.02	5.59	4.45	0.53987	Sulphate transporter (1);	0.148487	0.46442	N	0.000296	T	0.78413	0.4279	N	0.03304	-0.355	0.80722	D	1	B	0.12013	0.005	B	0.17979	0.02	T	0.70450	-0.4868	10	0.05721	T	0.95	.	11.2381	0.48953	0.0:0.0715:0.0:0.9284	.	247	O43511	S26A4_HUMAN	H	247	ENSP00000265715:Y247H	ENSP00000265715:Y247H	Y	+	1	0	SLC26A4	107102764	0.998000	0.40836	1.000000	0.80357	0.956000	0.61745	2.179000	0.42528	0.968000	0.38212	0.528000	0.53228	TAC	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337148.1		+	ENST00000265715.3	Missense_Mutation	SNP	7 : 107315528 - 107315528 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	892	161
ADNP2	22850	broad.mit.edu	37	18	77896614	77896614	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77896614G>T	ENST00000262198.4	+	4	3773	c.3318G>T	c.(3316-3318)aaG>aaT	p.K1106N		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	1106					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		AAAATCACAAGCCTTCTGTAC	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	33	32			NA	NA	18		NA											NA				77896614		2176	4278	6454	SO:0001583	missense			AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544	22850	22850		Homeoboxes / ZF class, Zinc fingers, C2H2-type	23803	protein-coding gene	gene with protein product			zinc finger protein 508	ZNF508	NA		Standard	NM_014913	NM_014913	NA	Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.3318G>T	18.37:g.77896614G>T	ENSP00000262198:p.Lys1106Asn	NA	A8K951|O94943|Q9H9P3	37	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447950	0.43429	.	.	ENSG00000101544	ENST00000262198	D	0.91686	-2.89	4.43	0.386	0.16254	Homeodomain-like (1);	0.000000	0.64402	D	0.000002	D	0.92522	0.7625	L	0.55743	1.74	0.34969	D	0.75298	D	0.67145	0.996	D	0.63793	0.918	D	0.91527	0.5239	9	.	.	.	-26.3007	9.0574	0.36414	0.5522:0.0:0.4478:0.0	.	1106	Q6IQ32	ADNP2_HUMAN	N	1106	ENSP00000262198:K1106N	.	K	+	3	2	ADNP2	75997605	0.731000	0.28111	0.999000	0.59377	0.978000	0.69477	-0.344000	0.07780	0.121000	0.18284	0.561000	0.74099	AAG	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418979.1		+	ENST00000262198.4	Missense_Mutation	SNP	18 : 77896614 - 77896614 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	164	33
CEP164	22897	broad.mit.edu	37	11	117222548	117222548	+	Silent	SNP	C	C	T	rs149281923		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117222548C>T	ENST00000278935.3	+	5	384	c.237C>T	c.(235-237)aaC>aaT	p.N79N		NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	79	Interaction with ATRIP.|WW.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		ACTTCGCCAACGGGCAGTCTA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4401	2.1+/-5.4	0,1,2200	121	108	112		237	-5.5	0.9	11	dbSNP_134	112	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	CEP164	NM_014956.4		0,2,6495	TT,TC,CC	NA	0.0116,0.0227,0.0154		79/1461	117222548	2,12992	2201	4296	6497	SO:0001819	synonymous_variant			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274	22897	22897			29182	protein-coding gene	gene with protein product		614848			NA	10470851, 14654843	Standard	NM_014956	NM_014956	NA	Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.237C>T	11.37:g.117222548C>T		NA	Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	37	CCDS31683.1																																																																																			CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392893.1		+	ENST00000278935.3	Silent	SNP	11 : 117222548 - 117222548 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	540	105
SASH1	23328	broad.mit.edu	37	6	148865211	148865211	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:148865211C>T	ENST00000367467.3	+	18	3080	c.2605C>T	c.(2605-2607)Cca>Tca	p.P869S		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	869							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		ACCTGAAGTGCCACAGAAGAC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	127	123			NA	NA	6		NA											NA				148865211		2203	4300	6503	SO:0001583	missense			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961	23328	23328		SAM and SH3 domain containing, Sterile alpha motif (SAM) domain containing	19182	protein-coding gene	gene with protein product		607955			NA	9872452, 12771949	Standard	NM_015278	NM_015278	NA	Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.2605C>T	6.37:g.148865211C>T	ENSP00000356437:p.Pro869Ser	NA	Q5TGN5|Q8TAI0|Q9H7R7	37	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.632371	0.29068	.	.	ENSG00000111961	ENST00000367467;ENST00000535767;ENST00000537769	T	0.37752	1.18	5.36	5.36	0.76844	.	0.523656	0.21307	N	0.076714	T	0.18800	0.0451	L	0.51422	1.61	0.35065	D	0.761911	P;B	0.35077	0.483;0.278	B;B	0.27887	0.084;0.057	T	0.15636	-1.0430	10	0.59425	D	0.04	-14.3921	13.0516	0.58958	0.0:0.7884:0.2116:0.0	.	850;869	Q6P4R9;O94885	.;SASH1_HUMAN	S	869;630;279	ENSP00000356437:P869S	ENSP00000356437:P869S	P	+	1	0	SASH1	148906904	0.994000	0.37717	1.000000	0.80357	0.106000	0.19336	0.790000	0.26900	2.511000	0.84671	0.650000	0.86243	CCA	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042619.1		+	ENST00000367467.3	Missense_Mutation	SNP	6 : 148865211 - 148865211 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1404	249
DBP	1628	broad.mit.edu	37	19	49134254	49134254	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49134254C>T	ENST00000222122.5	-	4	1261	c.818G>A	c.(817-819)cGt>cAt	p.R273H	DBP_ENST00000593500.1_Missense_Mutation_p.R71H|DBP_ENST00000599385.1_Missense_Mutation_p.R71H	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	273					regulation of transcription from RNA polymerase II promoter|rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		CCGGGCGTCACGGGACCGCTT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	32	32			NA	NA	19		NA											NA				49134254		2203	4300	6503	SO:0001583	missense			U06936	CCDS12728.1	19q13.33	2013-09-20			ENSG00000105516	ENSG00000105516	1628	1628			2697	protein-coding gene	gene with protein product		124097			NA	1535333, 7835883	Standard	NM_001352	XR_243907	NA	Approved	DABP	uc002pjx.4	Q10586	OTTHUMG00000183319	ENST00000222122.5:c.818G>A	19.37:g.49134254C>T	ENSP00000222122:p.Arg273His	NA	A2I2P4	37	CCDS12728.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.809129	0.90707	.	.	ENSG00000105516	ENST00000222122	T	0.72167	-0.63	4.81	4.81	0.61882	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.000000	0.85682	U	0.000000	D	0.89612	0.6765	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93238	0.6623	10	0.87932	D	0	-16.2193	15.7386	0.77866	0.0:1.0:0.0:0.0	.	273	Q10586	DBP_HUMAN	H	273	ENSP00000222122:R273H	ENSP00000222122:R273H	R	-	2	0	DBP	53826066	1.000000	0.71417	0.794000	0.32065	0.938000	0.57974	5.689000	0.68234	2.364000	0.80123	0.563000	0.77884	CGT	DBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466167.1		-	ENST00000222122.5	Missense_Mutation	SNP	19 : 49134254 - 49134254 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	171	39
FAM83H	286077	broad.mit.edu	37	8	144812445	144812445	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144812445G>A	ENST00000388913.3	-	2	433	c.308C>T	c.(307-309)gCc>gTc	p.A103V		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	103					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTCAGGCACGGCCTGGTCTGA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	53	51			NA	NA	8		NA											NA				144812445		2059	4190	6249	SO:0001583	missense			AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921	286077	286077			24797	protein-coding gene	gene with protein product		611927			NA	18252228	Standard	NM_198488	NM_198488	NA	Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.308C>T	8.37:g.144812445G>A	ENSP00000373565:p.Ala103Val	NA	A0JLS2|Q8N4W0	37	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	g	21.2	4.115005	0.77210	.	.	ENSG00000180921	ENST00000388913	T	0.11930	2.73	5.08	4.18	0.49190	.	0.059964	0.64402	D	0.000004	T	0.28499	0.0705	L	0.51422	1.61	0.37744	D	0.925714	D	0.63880	0.993	D	0.63381	0.914	T	0.09122	-1.0689	10	0.52906	T	0.07	.	14.1178	0.65167	0.0:0.0:0.8485:0.1515	.	103	Q6ZRV2	FA83H_HUMAN	V	103	ENSP00000373565:A103V	ENSP00000373565:A103V	A	-	2	0	FAM83H	144884433	1.000000	0.71417	0.943000	0.38184	0.946000	0.59487	3.843000	0.55865	1.242000	0.43836	0.561000	0.74099	GCC	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257632.2		-	ENST00000388913.3	Missense_Mutation	SNP	8 : 144812445 - 144812445 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	405	41
ABCA7	10347	broad.mit.edu	37	19	1041388	1041388	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1041388C>T	ENST00000263094.6	+	2	259	c.28C>T	c.(28-30)Ctg>Ttg	p.L10L	ABCA7_ENST00000433129.1_Silent_p.L10L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	10					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGATGCTGCTGCTCTGGAA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	113	115			NA	NA	19		NA											NA				1041388		2203	4300	6503	SO:0001819	synonymous_variant			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687	10347	10347		ATP binding cassette transporters / subfamily A	37	protein-coding gene	gene with protein product		605414			NA		Standard	NM_019112	NM_019112	NA	Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.28C>T	19.37:g.1041388C>T		NA	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	37	CCDS12055.1																																																																																			ABCA7-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394993.1		+	ENST00000263094.6	Silent	SNP	19 : 1041388 - 1041388 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	816	145
BANK1	55024	broad.mit.edu	37	4	102751340	102751340	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:102751340T>C	ENST00000504592.1	+	6	819	c.401T>C	c.(400-402)gTa>gCa	p.V134A	BANK1_ENST00000322953.4_Missense_Mutation_p.V149A|BANK1_ENST00000428908.1_Intron|BANK1_ENST00000508653.1_Intron|BANK1_ENST00000444316.2_Missense_Mutation_p.V119A			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	149	Interaction with ITPR2.				B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TACATCTCTGTAATCCAGAGT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	60	58			NA	NA	4		NA											NA				102751340		2193	4297	6490	SO:0001583	missense			AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11					55024	55024		Ankyrin repeat domain containing	18233	protein-coding gene	gene with protein product		610292			NA	11782428, 21208380, 21480188	Standard	NM_017935	NM_017935	NA	Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000504592.1:c.401T>C	4.37:g.102751340T>C	ENSP00000421443:p.Val134Ala	NA	A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	37		.	.	.	.	.	.	.	.	.	.	T	12.30	1.896933	0.33535	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000444316	T;T;T	0.10005	2.92;2.92;2.92	5.32	5.32	0.75619	.	0.424012	0.20636	N	0.088481	T	0.19446	0.0467	L	0.34521	1.04	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.66084	0.941;0.941	T	0.06570	-1.0819	10	0.15499	T	0.54	.	14.4797	0.67573	0.0:0.0:0.0:1.0	.	149;134	Q8NDB2;Q8NDB2-2	BANK1_HUMAN;.	A	134;149;119	ENSP00000421443:V134A;ENSP00000320509:V149A;ENSP00000388817:V119A	ENSP00000320509:V149A	V	+	2	0	BANK1	102970363	0.923000	0.31300	0.808000	0.32385	0.974000	0.67602	2.253000	0.43205	2.006000	0.58801	0.528000	0.53228	GTA	BANK1-004	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000363164.1		+	ENST00000504592.1	Missense_Mutation	SNP	4 : 102751340 - 102751340 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	431	90
ZNF626	199777	broad.mit.edu	37	19	20808152	20808152	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:20808152T>C	ENST00000601440.1	-	4	677	c.531A>G	c.(529-531)gaA>gaG	p.E177E	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						CTTTGCCACATTCTATATATT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	67	67			NA	NA	19		NA											NA				20808152		2067	4246	6313	SO:0001819	synonymous_variant			BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171	199777	199777		Zinc fingers, C2H2-type, -	30461	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_145297	NM_145297	NA	Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.531A>G	19.37:g.20808152T>C		NA	Q8N8T4	37	CCDS42535.1																																																																																			ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447845.2		-	ENST00000601440.1	Silent	SNP	19 : 20808152 - 20808152 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	274	51
PAF1	54623	broad.mit.edu	37	19	39879412	39879412	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39879412C>T	ENST00000221265.3	-	9	1060	c.730G>A	c.(730-732)Gcc>Acc	p.A244T	PAF1_ENST00000595564.1_Missense_Mutation_p.A234T|PAF1_ENST00000221266.7_Missense_Mutation_p.A211T	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	244					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CTAATCATGGCCTGAGACATC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	77	86			NA	NA	19		NA											NA				39879412		2203	4300	6503	SO:0001583	missense				CCDS12533.1, CCDS59387.1	19q13.1	2008-02-05				ENSG00000006712	54623	54623			25459	protein-coding gene	gene with protein product		610506			NA	15632063	Standard	NM_019088	NM_019088	NA	Approved	PD2, F23149_1, FLJ11123	uc002old.4	Q8N7H5		ENST00000221265.3:c.730G>A	19.37:g.39879412C>T	ENSP00000221265:p.Ala244Thr	NA	O75239|Q9H166|Q9NUU9	37	CCDS12533.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258444	0.80246	.	.	ENSG00000006712	ENST00000221265;ENST00000221266;ENST00000416728	.	.	.	5.11	4.05	0.47172	.	0.000000	0.85682	D	0.000000	T	0.79305	0.4423	M	0.82323	2.585	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.986	T	0.82022	-0.0663	9	0.59425	D	0.04	-20.7666	13.516	0.61541	0.0:0.842:0.158:0.0	.	211;244	F8W9Q2;Q8N7H5	.;PAF1_HUMAN	T	244;211;191	.	ENSP00000221265:A244T	A	-	1	0	PAF1	44571252	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.182000	0.77689	1.234000	0.43709	0.563000	0.77884	GCC	PAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464477.1		-	ENST00000221265.3	Missense_Mutation	SNP	19 : 39879412 - 39879412 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	355	60
CHD8	57680	broad.mit.edu	37	14	21859667	21859667	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21859667C>T	ENST00000557364.1	-	36	7283	c.7020G>A	c.(7018-7020)tgG>tgA	p.W2340*	CHD8_ENST00000430710.3_Nonsense_Mutation_p.W2061*|CHD8_ENST00000399982.2_Nonsense_Mutation_p.W2340*			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2340					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GACCCTGTAACCACATCTCCA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	51	51			NA	NA	14		NA											NA				21859667		2025	4166	6191	SO:0001587	stop_gained			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888	57680	57680			20153	protein-coding gene	gene with protein product		610528	helicase with SNF2 domain 1	HELSNF1	NA	10997877	Standard	NM_020920	NM_020920	NA	Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.7020G>A	14.37:g.21859667C>T	ENSP00000451601:p.Trp2340*	NA	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	37	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	49	15.257496	0.99828	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.6396	18.1527	0.89679	0.0:1.0:0.0:0.0	.	.	.	.	X	2061;2340;2060;2340	.	ENSP00000262707:W2060X	W	-	3	0	CHD8	20929507	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.949000	0.75971	2.819000	0.97034	0.655000	0.94253	TGG	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410436.1		-	ENST00000557364.1	Nonsense_Mutation	SNP	14 : 21859667 - 21859667 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	146	24
TUBGCP6	85378	broad.mit.edu	37	22	50664719	50664719	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50664719G>A	ENST00000248846.5	-	8	1794	c.1690C>T	c.(1690-1692)Cga>Tga	p.R564*	TUBGCP6_ENST00000439308.2_Nonsense_Mutation_p.R564*			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	564					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CACCTACCTCGGAAGCTGAGG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	68	71			NA	NA	22		NA											NA				50664719		2203	4300	6503	SO:0001587	stop_gained			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159	85378	85378			18127	protein-coding gene	gene with protein product	gamma-tubulin complex component 6	610053			NA	11694571, 11258795	Standard	NM_020461	XR_244458	NA	Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.1690C>T	22.37:g.50664719G>A	ENSP00000248846:p.Arg564*	NA	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	37	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	G	40	8.463773	0.98822	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	.	.	.	5.32	1.49	0.22878	.	0.157011	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9083	0.63850	0.0:0.0:0.3878:0.6122	.	.	.	.	X	564	.	ENSP00000248846:R564X	R	-	1	2	TUBGCP6	49006846	1.000000	0.71417	1.000000	0.80357	0.171000	0.22731	2.718000	0.47236	0.313000	0.23062	-0.397000	0.06425	CGA	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075004.3		-	ENST00000248846.5	Nonsense_Mutation	SNP	22 : 50664719 - 50664719 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	314	13
TAF1B	9014	broad.mit.edu	37	2	10073915	10073915	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10073915T>C	ENST00000263663.5	+	15	1757	c.1569T>C	c.(1567-1569)taT>taC	p.Y523Y	TAF1B_ENST00000396242.3_Silent_p.Y268Y	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	523					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTTCTAGCTATTGTACACATG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	63	61			NA	NA	2		NA											NA				10073915		2197	4293	6490	SO:0001819	synonymous_variant			L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750	9014	9014			11533	protein-coding gene	gene with protein product		604904	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD		NA	7801123	Standard	NM_005680	NM_005680	NA	Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.1569T>C	2.37:g.10073915T>C		NA	Q15574|Q8WVC3	37	CCDS33143.1																																																																																			TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323426.2		+	ENST00000263663.5	Silent	SNP	2 : 10073915 - 10073915 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	298	79
EPS8L1	54869	broad.mit.edu	37	19	55589480	55589480	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55589480C>T	ENST00000201647.6	+	3	98	c.42C>T	c.(40-42)agC>agT	p.S14S	EPS8L1_ENST00000540810.1_Intron|EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000592824.1_3'UTR	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	14						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CAAAGCCAAGCGCCAAGTCTA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(149;255 1863 3636 27051 29647)							NA				0													60	55	57			NA	NA	19		NA											NA				55589480		2203	4300	6503	SO:0001819	synonymous_variant			AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037	54869	54869			21295	protein-coding gene	gene with protein product		614987			NA	12620401	Standard	NM_017729	NM_133180	NA	Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.42C>T	19.37:g.55589480C>T		NA	Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	37	CCDS12914.1																																																																																			EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451713.1		+	ENST00000201647.6	Silent	SNP	19 : 55589480 - 55589480 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	46
MBTPS1	8720	broad.mit.edu	37	16	84132743	84132743	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84132743C>T	ENST00000343411.3	-	3	831	c.336G>A	c.(334-336)gcG>gcA	p.A112A		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	112					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTAGCAGCCCCGCTTTCTGTT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													198	183	188			NA	NA	16		NA											NA				84132743		2200	4300	6500	SO:0001819	synonymous_variant			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943	8720	8720			15456	protein-coding gene	gene with protein product		603355	membrane-bound transcription factor protease, site 1		NA	9809072, 10944850	Standard	NM_003791	NM_003791	NA	Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.336G>A	16.37:g.84132743C>T		NA	Q24JQ2|Q9UF67	37	CCDS10941.1																																																																																			MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269080.2		-	ENST00000343411.3	Silent	SNP	16 : 84132743 - 84132743 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	769	127
SLC6A20	54716	broad.mit.edu	37	3	45807055	45807055	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45807055C>A	ENST00000358525.4	-	8	1392	c.1277G>T	c.(1276-1278)aGc>aTc	p.S426I	SLC6A20_ENST00000353278.4_Missense_Mutation_p.S389I|SLC6A20_ENST00000456124.2_Missense_Mutation_p.S426I|SLC6A20_ENST00000493980.1_5'UTR	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	426					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GGGCAGGTGGCTGGAGATGAT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	58	62			NA	NA	3		NA											NA				45807055		2203	4300	6503	SO:0001583	missense			AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817	54716	54716		Solute carriers	30927	protein-coding gene	gene with protein product		605616			NA	9932288, 11352561	Standard	NM_020208	NM_022405	NA	Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.1277G>T	3.37:g.45807055C>A	ENSP00000346298:p.Ser426Ile	NA	A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	37	CCDS43077.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365948	0.41902	.	.	ENSG00000163817	ENST00000353278;ENST00000358525;ENST00000456124	T;T;T	0.73897	-0.79;-0.79;-0.79	5.71	3.83	0.44106	.	0.394675	0.27604	N	0.018634	T	0.51024	0.1650	N	0.04297	-0.235	0.28033	N	0.934041	P;P	0.36144	0.483;0.539	B;B	0.40410	0.144;0.328	T	0.45131	-0.9282	10	0.23302	T	0.38	.	6.5329	0.22336	0.0:0.5856:0.2461:0.1682	.	389;426	Q9NP91-2;Q9NP91	.;S6A20_HUMAN	I	389;426;426	ENSP00000296133:S389I;ENSP00000346298:S426I;ENSP00000404310:S426I	ENSP00000296133:S389I	S	-	2	0	SLC6A20	45782059	0.139000	0.22563	0.709000	0.30452	0.970000	0.65996	1.277000	0.33167	1.412000	0.46977	0.655000	0.94253	AGC	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257318.3		-	ENST00000358525.4	Missense_Mutation	SNP	3 : 45807055 - 45807055 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	145	30
BPHL	670	broad.mit.edu	37	6	3129401	3129401	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:3129401C>T	ENST00000434640.1	+	5	811	c.450C>T	c.(448-450)taC>taT	p.Y150Y	BPHL_ENST00000380379.5_Silent_p.Y167Y|BPHL_ENST00000380368.2_Silent_p.Y150Y|BPHL_ENST00000380375.3_Silent_p.Y150Y			Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	167					cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				CCAACGCCTACGTCACTGACG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	89	98			NA	NA	6		NA											NA				3129401		2203	4300	6503	SO:0001819	synonymous_variant			X81372	CCDS4483.2	6p25	2008-08-29	2008-08-29		ENSG00000137274	ENSG00000137274	670	670			1094	protein-coding gene	gene with protein product	breast epithelial mucin-associated antigen	603156		MCNAA	NA	7759552, 9721218, 15832508	Standard		NM_004332	NA	Approved	Bph-rp	uc003mva.3	Q86WA6	OTTHUMG00000014140	ENST00000434640.1:c.450C>T	6.37:g.3129401C>T		NA	Q00306|Q13855|Q3KP51	37																																																																																				BPHL-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000346932.2		+	ENST00000434640.1	Silent	SNP	6 : 3129401 - 3129401 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	248	40
HEATR1	55127	broad.mit.edu	37	1	236740213	236740213	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236740213A>G	ENST00000366582.3	-	21	2906	c.2792T>C	c.(2791-2793)gTa>gCa	p.V931A	HEATR1_ENST00000366581.2_Missense_Mutation_p.V931A	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	931					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AACTTCTTTTACGGGGCTTCC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	69	67			NA	NA	1		NA											NA				236740213		2203	4300	6503	SO:0001583	missense			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285	55127	55127			25517	protein-coding gene	gene with protein product	UTP10, small subunit (SSU) processome component, homolog (yeast)				NA	17699751	Standard	XM_375853	NM_018072	NA	Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.2792T>C	1.37:g.236740213A>G	ENSP00000355541:p.Val931Ala	NA	Q5T3Q8|Q6P197|Q9NW23	37	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	A	8.980	0.975030	0.18736	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.65549	-0.16;-0.13	5.36	4.24	0.50183	Armadillo-like helical (1);Armadillo-type fold (2);	0.567431	0.18886	N	0.128438	T	0.48003	0.1476	L	0.46157	1.445	0.50813	D	0.999894	B;P	0.45768	0.163;0.866	B;B	0.33254	0.037;0.16	T	0.38972	-0.9636	10	0.28530	T	0.3	.	10.9493	0.47319	0.9265:0.0:0.0735:0.0	.	931;931	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	A	931	ENSP00000355541:V931A;ENSP00000355540:V931A	ENSP00000355540:V931A	V	-	2	0	HEATR1	234806836	0.825000	0.29262	0.015000	0.15790	0.733000	0.41908	5.962000	0.70364	0.891000	0.36235	0.379000	0.24179	GTA	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096635.1		-	ENST00000366582.3	Missense_Mutation	SNP	1 : 236740213 - 236740213 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	603	31
ASB5	140458	broad.mit.edu	37	4	177138127	177138127	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:177138127G>A	ENST00000512254.1	-	6	722	c.545C>T	c.(544-546)aCt>aTt	p.T182I	ASB5_ENST00000296525.3_Missense_Mutation_p.T235I			Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	235					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		ATGTAATGGAGTATCCCAATA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ILE/THR	0,4406		0,0,2203	194	186	189		704	4.6	1	4		189	1,8599	1.2+/-3.3	0,1,4299	no	missense	ASB5	NM_080874.3	89	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	235/330	177138127	1,13005	2203	4300	6503	SO:0001583	missense			AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122	140458	140458		Ankyrin repeat domain containing	17180	protein-coding gene	gene with protein product		615050	ankyrin repeat and SOCS box-containing 5		NA		Standard		NM_080874	NA	Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000512254.1:c.545C>T	4.37:g.177138127G>A	ENSP00000422877:p.Thr182Ile	NA		37		.	.	.	.	.	.	.	.	.	.	G	23.9	4.476462	0.84640	0.0	1.16E-4	ENSG00000164122	ENST00000296525;ENST00000512254	T;D	0.85484	-0.24;-1.99	5.45	4.55	0.56014	Ankyrin repeat-containing domain (4);	0.217812	0.47852	D	0.000203	D	0.92364	0.7577	M	0.87328	2.875	0.58432	D	0.999997	D;D	0.64830	0.989;0.994	P;D	0.63033	0.832;0.91	D	0.93496	0.6840	10	0.87932	D	0	-28.1797	16.0115	0.80406	0.0:0.1344:0.8656:0.0	.	235;182	Q8WWX0;Q8N7B5	ASB5_HUMAN;.	I	235;182	ENSP00000296525:T235I;ENSP00000422877:T182I	ENSP00000296525:T235I	T	-	2	0	ASB5	177375121	1.000000	0.71417	0.966000	0.40874	0.837000	0.47467	7.124000	0.77185	2.712000	0.92718	0.591000	0.81541	ACT	ASB5-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000362345.1		-	ENST00000512254.1	Missense_Mutation	SNP	4 : 177138127 - 177138127 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	929	171
OSCAR	126014	broad.mit.edu	37	19	54600355	54600355	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54600355G>A	ENST00000284648.6	-	4	364	c.167C>T	c.(166-168)cCc>cTc	p.P56L	OSCAR_ENST00000391761.1_Missense_Mutation_p.P45L|OSCAR_ENST00000356532.3_Missense_Mutation_p.P60L|OSCAR_ENST00000391760.1_Intron|OSCAR_ENST00000359649.4_Missense_Mutation_p.P60L|OSCAR_ENST00000351806.4_Missense_Mutation_p.P45L|OSCAR_ENST00000358375.4_Missense_Mutation_p.P56L			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	56	Ig-like 1.					extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					AGCGGGTTGGGGTGCCCGGCA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	76	75			NA	NA	19		NA											NA				54600355		2203	4300	6503	SO:0001583	missense			AK130199	CCDS12873.1, CCDS12874.1, CCDS12875.1, CCDS12876.1, CCDS62789.1, CCDS74444.1	19q13.42	2013-01-29			ENSG00000170909	ENSG00000170909	126014	126014		Immunoglobulin superfamily / Immunoglobulin-like domain containing	29960	protein-coding gene	gene with protein product		606862			NA	11805147	Standard	NM_133169	NM_206818	NA	Approved		uc002qda.3	Q8IYS5	OTTHUMG00000064966	ENST00000284648.6:c.167C>T	19.37:g.54600355G>A	ENSP00000365808:p.Pro56Leu	NA	B7WNS2|Q5GRG5|Q8N763|Q8NHL4|Q8WXQ0|Q8WXQ1|Q8WXQ2	37		.	.	.	.	.	.	.	.	.	.	G	15.62	2.887743	0.52014	.	.	ENSG00000170909	ENST00000391761;ENST00000356532;ENST00000359649;ENST00000358375;ENST00000351806;ENST00000284648	T;T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56;2.56	4.05	2.99	0.34606	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.372474	0.19477	U	0.113310	T	0.29288	0.0729	M	0.73372	2.23	0.20489	N	0.999894	D;P;D;D;D;D	0.71674	0.998;0.889;0.982;0.99;0.993;0.976	D;P;P;P;P;P	0.66716	0.946;0.805;0.864;0.859;0.817;0.795	T	0.02075	-1.1218	10	0.52906	T	0.07	.	7.0457	0.25044	0.1264:0.0:0.8736:0.0	.	56;45;45;60;56;60	Q8IYS5;Q8IYS5-4;Q8IYS5-6;Q8IYS5-7;Q8IYS5-2;Q8IYS5-3	OSCAR_HUMAN;.;.;.;.;.	L	45;60;60;56;45;56	ENSP00000375641:P45L;ENSP00000348927:P60L;ENSP00000352671:P60L;ENSP00000351145:P56L;ENSP00000304523:P45L;ENSP00000365808:P56L	ENSP00000365808:P56L	P	-	2	0	OSCAR	59292167	0.440000	0.25618	0.560000	0.28344	0.566000	0.35808	2.588000	0.46137	2.001000	0.58596	0.585000	0.79938	CCC	OSCAR-001	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000139493.4		-	ENST00000284648.6	Missense_Mutation	SNP	19 : 54600355 - 54600355 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	739	114
PSG1	5669	broad.mit.edu	37	19	43372370	43372370	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43372370C>A	ENST00000244296.2	-	5	1263	c.1126G>T	c.(1126-1128)Gga>Tga	p.G376*	PSG1_ENST00000312439.6_Nonsense_Mutation_p.G376*|PSG1_ENST00000595356.1_Nonsense_Mutation_p.G376*|PSG1_ENST00000403380.3_Nonsense_Mutation_p.G283*|PSG1_ENST00000436291.2_Nonsense_Mutation_p.G376*|PSG1_ENST00000595124.1_Nonsense_Mutation_p.G283*	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1	NA										breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				AGCTTTTGTCCTGGTAGCTGA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													180	187	185			NA	NA	19		NA											NA				43372370		2201	4298	6499	SO:0001587	stop_gained				CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924	NA	5669		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	9514	protein-coding gene	gene with protein product		176390		PSBG1	NA		Standard		NM_006905	NA	Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000244296.2:c.1126G>T	19.37:g.43372370C>A	ENSP00000244296:p.Gly376*	NA		37	CCDS12612.1	.	.	.	.	.	.	.	.	.	.	N	15.23	2.772159	0.49680	.	.	ENSG00000231924	ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	.	.	.	1.63	0.478	0.16789	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999991	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.3649	0.07199	0.0:0.2662:0.0:0.7338	.	.	.	.	X	376;283;376;376	.	ENSP00000244296:G376X	G	-	1	0	PSG1	48064210	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.107000	0.15375	-0.087000	0.12528	0.195000	0.17529	GGA	PSG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321427.1		-	ENST00000244296.2	Nonsense_Mutation	SNP	19 : 43372370 - 43372370 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1449	216
CCNG2	901	broad.mit.edu	37	4	78086953	78086953	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78086953G>A	ENST00000316355.5	+	8	1267		c.e8-1		CCNG2_ENST00000497512.1_Intron|CCNG2_ENST00000395640.1_Splice_Site|CCNG2_ENST00000354403.5_Intron|CCNG2_ENST00000502280.1_Splice_Site	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	NA					cell cycle checkpoint|cell division|mitosis	cytoplasm				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TTTCTCTTTAGTGAGGACTCT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	82	82			NA	NA	4		NA											NA				78086953		2203	4300	6503	SO:0001630	splice_region_variant			BC032518	CCDS3581.1	4q21.22	2009-05-07			ENSG00000138764	ENSG00000138764	901	901			1593	protein-coding gene	gene with protein product		603203			NA	8806701	Standard	NM_004354	NM_004354	NA	Approved		uc003hkq.4	Q16589	OTTHUMG00000130100	ENST00000316355.5:c.912-1G>A	4.37:g.78086953G>A		NA		37	CCDS3581.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.794848	0.50102	.	.	ENSG00000138764	ENST00000316355;ENST00000502280;ENST00000395640	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8598	0.86014	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCNG2	78305977	1.000000	0.71417	0.989000	0.46669	0.687000	0.40016	9.334000	0.96470	2.407000	0.81776	0.655000	0.94253	.	CCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252404.3	Intron	+	ENST00000316355.5	Splice_Site	SNP	4 : 78086953 - 78086953 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	46
DVL1	1855	broad.mit.edu	37	1	1271741	1271741	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1271741C>A	ENST00000378888.5	-	15	2153	c.1869G>T	c.(1867-1869)caG>caT	p.Q623H	DVL1_ENST00000378891.5_Missense_Mutation_p.Q598H			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	623					canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CACGGCTGAGCTGGCCGGCCG	0.741		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													9	10	10			NA	NA	1		NA											NA				1271741		1872	3800	5672	SO:0001583	missense			AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404	1855	1855		Dishevelled homologs	3084	protein-coding gene	gene with protein product		601365	dishevelled 1 (homologous to Drosophila dsh), dishevelled, dsh homolog 1 (Drosophila)		NA	8817329	Standard	NM_004421	NM_004421	NA	Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.1869G>T	1.37:g.1271741C>A	ENSP00000368166:p.Gln623His	NA	Q5TA33|Q5TA35	37		.	.	.	.	.	.	.	.	.	.	C	11.40	1.627896	0.28978	.	.	ENSG00000107404	ENST00000378891;ENST00000378888;ENST00000345100;ENST00000263743	T;T	0.05319	3.46;3.5	4.7	4.7	0.59300	Dishevelled C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.19846	0.0477	L	0.47190	1.495	0.43114	D	0.994829	D;D;D	0.67145	0.995;0.996;0.994	D;D;D	0.81914	0.989;0.995;0.991	T	0.00473	-1.1718	10	0.48119	T	0.1	.	18.2311	0.89934	0.0:1.0:0.0:0.0	.	281;623;598	G3XA93;O14640;O14640-2	.;DVL1_HUMAN;.	H	598;623;372;281	ENSP00000368169:Q598H;ENSP00000368166:Q623H	ENSP00000263743:Q281H	Q	-	3	2	DVL1	1261604	1.000000	0.71417	1.000000	0.80357	0.406000	0.30931	1.953000	0.40352	2.607000	0.88179	0.555000	0.69702	CAG	DVL1-004	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000008490.1		-	ENST00000378888.5	Missense_Mutation	SNP	1 : 1271741 - 1271741 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	136	26
KRCC1	51315	broad.mit.edu	37	2	88328012	88328012	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88328012G>A	ENST00000347055.3	-	4	464	c.71C>T	c.(70-72)gCc>gTc	p.A24V		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	24										cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						TAAGCCTCTGGCTTTCTGTAC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	43	42			NA	NA	2		NA											NA				88328012		2203	4299	6502	SO:0001583	missense			AF208845	CCDS2000.1	2p11.2	2008-02-05			ENSG00000172086	ENSG00000172086	51315	51315			28039	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_016618	XM_005264360	NA	Approved	FLJ22333	uc002sso.1	Q9NPI7	OTTHUMG00000130315	ENST00000347055.3:c.71C>T	2.37:g.88328012G>A	ENSP00000340083:p.Ala24Val	NA	Q3B7J7	37	CCDS2000.1	.	.	.	.	.	.	.	.	.	.	.	25.2	4.613043	0.87258	.	.	ENSG00000172086	ENST00000347055	T	0.54479	0.57	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000005	T	0.72070	0.3415	M	0.69463	2.115	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.73538	-0.3951	10	0.87932	D	0	-1.79	17.6132	0.88060	0.0:0.0:1.0:0.0	.	24	Q9NPI7	KRCC1_HUMAN	V	24	ENSP00000340083:A24V	ENSP00000340083:A24V	A	-	2	0	KRCC1	88109127	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.961000	0.76042	2.759000	0.94783	0.650000	0.86243	GCC	KRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252664.1		-	ENST00000347055.3	Missense_Mutation	SNP	2 : 88328012 - 88328012 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	80
PDE4DIP	9659	broad.mit.edu	37	1	144864303	144864303	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144864303C>A	ENST00000530740.1	-	38	6085	c.6047G>T	c.(6046-6048)aGc>aTc	p.S2016I	RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S2067I|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S1931I|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1825I|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1931I			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1931					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTCCCTCAGGCTTTCTGTTTC	0.537		NA	T	PDGFRB	MPD									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													77	85	83			NA	NA	1		NA											NA				144864303		2203	4296	6499	SO:0001583	missense			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104	9659	9659			15580	protein-coding gene	gene with protein product	myomegalin	608117	cardiomyopathy associated 2	CMYA2	NA	9455484, 11134006	Standard	NM_022359	NM_022359	NA	Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000530740.1:c.6047G>T	1.37:g.144864303C>A	ENSP00000435654:p.Ser2016Ile	NA	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.583|7.583	0.669135|0.669135	0.14776|0.14776	.|.	.|.	ENSG00000178104|ENSG00000178104	ENST00000530130|ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	.|T;T;T;T;T	.|0.01665	.|4.7;4.81;4.81;4.8;4.81	4.52|4.52	2.12|2.12	0.27331|0.27331	.|.	.|.	.|.	.|.	.|.	T|T	0.00356|0.00356	0.0011|0.0011	N|N	0.08118|0.08118	0|0	0.24301|0.24301	N|N	0.995126|0.995126	.|B;B	.|0.26744	.|0.047;0.158	.|B;B	.|0.18871	.|0.023;0.021	T|T	0.46624|0.46624	-0.9178|-0.9178	5|9	.|0.51188	.|T	.|0.08	.|.	3.2333|3.2333	0.06756|0.06756	0.195:0.5389:0.0:0.2661|0.195:0.5389:0.0:0.2661	.|.	.|1825;1931	.|Q5VU43-3;Q5VU43	.|.;MYOME_HUMAN	S|I	88|1825;1931;1931;2016;2067	.|ENSP00000327209:S1825I;ENSP00000358360:S1931I;ENSP00000358363:S1931I;ENSP00000435654:S2016I;ENSP00000358366:S2067I	.|ENSP00000327209:S1825I	A|S	-|-	1|2	0|0	PDE4DIP|PDE4DIP	143575660|143575660	0.766000|0.766000	0.28496|0.28496	0.468000|0.468000	0.27192|0.27192	0.453000|0.453000	0.32348|0.32348	1.302000|1.302000	0.33459|0.33459	0.388000|0.388000	0.25054|0.25054	0.650000|0.650000	0.86243|0.86243	GCC|AGC	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000384663.2		-	ENST00000530740.1	Missense_Mutation	SNP	1 : 144864303 - 144864303 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	663	64
RABL2A	11159	broad.mit.edu	37	2	114391779	114391779	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:114391779G>T	ENST00000409875.1	+	5	489	c.187G>T	c.(187-189)Gcc>Tcc	p.A63S	RABL2A_ENST00000393166.3_Missense_Mutation_p.A63S|RABL2A_ENST00000409842.1_Missense_Mutation_p.A63S|RABL2A_ENST00000393165.3_Missense_Mutation_p.A63S|RABL2A_ENST00000376439.3_Missense_Mutation_p.A63S|RABL2A_ENST00000393167.3_Missense_Mutation_p.A63S			Q9UBK7	RBL2A_HUMAN	RAB, member of RAS oncogene family-like 2A	63					small GTPase mediated signal transduction		GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						CAAGCACACAGCCACGGTAGA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	72	86			NA	NA	2		NA											NA				114391779		2203	4300	6503	SO:0001583	missense				CCDS2118.1	2q13	2014-05-09			ENSG00000144134	ENSG00000144134	11159	11159		RAB, member RAS oncogene	9799	protein-coding gene	gene with protein product		605412			NA	10444334	Standard		NM_007082	NA	Approved		uc010flb.3	Q9UBK7	OTTHUMG00000047828	ENST00000409875.1:c.187G>T	2.37:g.114391779G>T	ENSP00000387229:p.Ala63Ser	NA	B7ZBD6|Q9NU37	37		.	.	.	.	.	.	.	.	.	.	G	13.90	2.374341	0.42105	.	.	ENSG00000144134	ENST00000393167;ENST00000409842;ENST00000413545;ENST00000393165;ENST00000393166;ENST00000409875;ENST00000376439	T;T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.05;-1.36;-1.36;-1.36;-1.36	4.13	3.25	0.37280	Small GTP-binding protein domain (1);	0.308233	0.40640	N	0.001055	T	0.80166	0.4573	M	0.65975	2.015	0.21762	N	0.999553	P;P;P;D	0.53312	0.633;0.589;0.633;0.959	P;P;P;P	0.53689	0.507;0.507;0.507;0.732	T	0.68492	-0.5394	10	0.08179	T	0.78	.	8.0718	0.30693	0.2026:0.0:0.7974:0.0	.	63;63;63;63	Q6IC14;A0AUY0;Q9UBK7;B7ZBD5	.;.;RBL2A_HUMAN;.	S	63	ENSP00000376872:A63S;ENSP00000386460:A63S;ENSP00000388944:A63S;ENSP00000376870:A63S;ENSP00000376871:A63S;ENSP00000387229:A63S;ENSP00000365622:A63S	ENSP00000365622:A63S	A	+	1	0	RABL2A	114108249	0.951000	0.32395	0.257000	0.24404	0.476000	0.33039	1.826000	0.39092	0.966000	0.38159	-0.369000	0.07265	GCC	RABL2A-013	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000330960.1		+	ENST00000409875.1	Missense_Mutation	SNP	2 : 114391779 - 114391779 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	133	15
GAS6	2621	broad.mit.edu	37	13	114526473	114526473	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114526473C>T	ENST00000327773.6	-	13	1674	c.1528G>A	c.(1528-1530)Gtg>Atg	p.V510M	GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000355761.4_Missense_Mutation_p.V456M|GAS6_ENST00000357389.3_Missense_Mutation_p.V553M|GAS6_ENST00000418959.3_Missense_Mutation_p.V211M|GAS6_ENST00000450766.1_Missense_Mutation_p.V237M	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	553	Laminin G-like 1.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				ATGTGAGCCACGACTTCTACT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	87	92			NA	NA	13		NA											NA				114526473		2203	4300	6503	SO:0001583	missense				CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087	2621	2621			4168	protein-coding gene	gene with protein product	AXL stimulatory factor	600441		AXLLG	NA	8336730	Standard	NM_000820	NM_000820	NA	Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.1528G>A	13.37:g.114526473C>T	ENSP00000331831:p.Val510Met	NA	Q6IMN1|Q7Z7N3	37	CCDS45072.1	.	.	.	.	.	.	.	.	.	.	C	7.977	0.750267	0.15778	.	.	ENSG00000183087	ENST00000357389;ENST00000355761;ENST00000450766;ENST00000418959;ENST00000327773	T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27	4.87	-3.2	0.05156	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	.	.	.	.	T	0.58538	0.2129	L	0.33485	1.01	0.09310	N	1	P;B;B	0.35575	0.51;0.118;0.143	B;B;B	0.17722	0.019;0.012;0.006	T	0.42832	-0.9428	9	0.54805	T	0.06	-5.1945	8.0893	0.30790	0.0:0.1474:0.1382:0.7144	.	553;237;510	Q14393;B3KVL4;Q14393-2	GAS6_HUMAN;.;.	M	553;456;237;211;510	ENSP00000349962:V553M;ENSP00000348003:V456M;ENSP00000416498:V237M;ENSP00000400117:V211M;ENSP00000331831:V510M	ENSP00000331831:V510M	V	-	1	0	GAS6	113587470	0.050000	0.20438	0.001000	0.08648	0.008000	0.06430	0.133000	0.15912	-0.685000	0.05177	-0.140000	0.14226	GTG	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045946.2		-	ENST00000327773.6	Missense_Mutation	SNP	13 : 114526473 - 114526473 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	477	62
NEK10	152110	broad.mit.edu	37	3	27326096	27326096	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:27326096C>T	ENST00000429845.2	-	23	2373	c.2011G>A	c.(2011-2013)Gtt>Att	p.V671I	NEK10_ENST00000357467.2_Missense_Mutation_p.V68I|NEK10_ENST00000341435.5_Missense_Mutation_p.V671I			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	671	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TACTTACTAACGGTTACTTTG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	107	109			NA	NA	3		NA											NA				27326096		2203	4300	6503	SO:0001583	missense			AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491	152110	152110			18592	protein-coding gene	gene with protein product			NIMA (never in mitosis gene a)- related kinase 10		NA	15289607	Standard	NM_152534	NM_199347	NA	Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.2011G>A	3.37:g.27326096C>T	ENSP00000395849:p.Val671Ile	NA	A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.504|5.504	0.277915|0.277915	0.10403|0.10403	.|.	.|.	ENSG00000163491|ENSG00000163491	ENST00000435584|ENST00000357467;ENST00000341435;ENST00000396636	.|T;T	.|0.34072	.|1.38;1.38	6.02|6.02	4.23|4.23	0.50019|0.50019	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.278543	.|0.34046	.|N	.|0.004303	T|T	0.08447|0.08447	0.0210|0.0210	N|N	0.00403|0.00403	-1.54|-1.54	0.35353|0.35353	D|D	0.787516|0.787516	.|B;B	.|0.10296	.|0.003;0.002	.|B;B	.|0.12156	.|0.003;0.007	T|T	0.27806|0.27806	-1.0063|-1.0063	5|10	.|0.02654	.|T	.|1	.|.	8.1462|8.1462	0.31113|0.31113	0.0:0.7434:0.0:0.2566|0.0:0.7434:0.0:0.2566	.|.	.|671;68	.|Q6ZWH5;Q8N774	.|NEK10_HUMAN;.	H|I	127|68;671;671	.|ENSP00000350059:V68I;ENSP00000343847:V671I	.|ENSP00000343847:V671I	R|V	-|-	2|1	0|0	NEK10|NEK10	27301100|27301100	0.962000|0.962000	0.33011|0.33011	0.669000|0.669000	0.29828|0.29828	0.956000|0.956000	0.61745|0.61745	1.794000|1.794000	0.38774|0.38774	1.558000|1.558000	0.49541|0.49541	0.650000|0.650000	0.86243|0.86243	CGT|GTT	NEK10-016	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000438156.1		-	ENST00000429845.2	Missense_Mutation	SNP	3 : 27326096 - 27326096 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	278	36
CCT8L2	150160	broad.mit.edu	37	22	17073413	17073413	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17073413C>A	ENST00000359963.3	-	1	287	c.28G>T	c.(28-30)Gag>Tag	p.E10*		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	10					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGGGGCAGCTCCAGGGCTGAA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	35	33			NA	NA	22		NA											NA				17073413		2203	4299	6502	SO:0001587	stop_gained			AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445	150160	150160			15553	protein-coding gene	gene with protein product					NA		Standard		NM_014406	NA	Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.28G>T	22.37:g.17073413C>A	ENSP00000353048:p.Glu10*	NA	A4QPH3|Q9UJS3	37	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	c	35	5.512440	0.96402	.	.	ENSG00000198445	ENST00000359963	.	.	.	2.0	-0.773	0.10995	.	1.706560	0.04122	U	0.316429	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-5.0478	7.4887	0.27449	0.0:0.4678:0.5322:0.0	.	.	.	.	X	10	.	ENSP00000353048:E10X	E	-	1	0	CCT8L2	15453413	0.000000	0.05858	0.009000	0.14445	0.625000	0.37756	0.513000	0.22770	-0.264000	0.09365	0.393000	0.25936	GAG	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280580.1		-	ENST00000359963.3	Nonsense_Mutation	SNP	22 : 17073413 - 17073413 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	319	58
CARD14	79092	broad.mit.edu	37	17	78165181	78165181	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78165181C>T	ENST00000573882.1	+	10	1685	c.1149C>T	c.(1147-1149)gaC>gaT	p.D383D	CARD14_ENST00000570421.1_Silent_p.D383D|CARD14_ENST00000344227.2_Silent_p.D383D|CARD14_ENST00000392434.2_Silent_p.D146D|CARD14_ENST00000573754.1_3'UTR			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	383					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGGAGAAGGACTCCCTCCGCA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	67	69			NA	NA	17		NA											NA				78165181		2203	4300	6503	SO:0001819	synonymous_variant			AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527	79092	79092			16446	protein-coding gene	gene with protein product		607211	psoriasis susceptibility 2	PSORS2	NA	11278692, 11356195, 22521418	Standard		NM_052819	NA	Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.1149C>T	17.37:g.78165181C>T		NA	Q9BVB5	37	CCDS11768.1																																																																																			CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437507.1		+	ENST00000573882.1	Silent	SNP	17 : 78165181 - 78165181 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	535	102
ACSS3	79611	broad.mit.edu	37	12	81472066	81472066	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81472066C>T	ENST00000548058.1	+	1	1077	c.167C>T	c.(166-168)tCc>tTc	p.S56F	ACSS3_ENST00000261206.3_Missense_Mutation_p.S56F			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	56						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GCACTGTCCTCCGGCAGTGGC	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	19	19			NA	NA	12		NA											NA				81472066		2067	4099	6166	SO:0001583	missense				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058	79611	79611		Acyl-CoA synthetase family	24723	protein-coding gene	gene with protein product		614356			NA	17762044	Standard	NM_024560	NM_024560	NA	Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.167C>T	12.37:g.81472066C>T	ENSP00000449535:p.Ser56Phe	NA	Q8NC66	37	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.097479	0.37048	.	.	ENSG00000111058	ENST00000548058;ENST00000261206	T;T	0.27402	1.67;1.67	4.76	4.76	0.60689	.	0.685773	0.12714	N	0.445308	T	0.25344	0.0616	N	0.08118	0	0.80722	D	1	P	0.36789	0.57	P	0.48114	0.567	T	0.03240	-1.1057	10	0.09590	T	0.72	-7.6315	14.7846	0.69793	0.0:1.0:0.0:0.0	.	56	Q9H6R3	ACSS3_HUMAN	F	56	ENSP00000449535:S56F;ENSP00000261206:S56F	ENSP00000261206:S56F	S	+	2	0	ACSS3	79996197	0.082000	0.21442	0.039000	0.18376	0.020000	0.10135	3.245000	0.51407	2.470000	0.83445	0.655000	0.94253	TCC	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407794.1		+	ENST00000548058.1	Missense_Mutation	SNP	12 : 81472066 - 81472066 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	246	43
MAST3	23031	broad.mit.edu	37	19	18249831	18249831	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18249831C>T	ENST00000262811.6	+	19	2015	c.2015C>T	c.(2014-2016)tCg>tTg	p.S672L		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	NA	AGC-kinase C-terminal.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						ACAGCACGTTCGGAACGTTAC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	48	46			NA	NA	19		NA											NA				18249831		2119	4246	6365	SO:0001583	missense			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308	23031	23031			19036	protein-coding gene	gene with protein product		612258			NA		Standard	XM_038150	NM_015016	NA	Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2015C>T	19.37:g.18249831C>T	ENSP00000262811:p.Ser672Leu	NA	Q7LDZ8|Q9UPI0	37	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.363653	0.61513	.	.	ENSG00000099308	ENST00000262811	T	0.23754	1.89	3.95	3.95	0.45737	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.64402	D	0.000001	T	0.33904	0.0879	M	0.79693	2.465	0.58432	D	0.999999	B	0.10296	0.003	B	0.12837	0.008	T	0.35574	-0.9783	10	0.56958	D	0.05	-12.0036	14.9224	0.70851	0.0:1.0:0.0:0.0	.	672	O60307	MAST3_HUMAN	L	672	ENSP00000262811:S672L	ENSP00000262811:S672L	S	+	2	0	MAST3	18110831	1.000000	0.71417	0.533000	0.28001	0.029000	0.11900	7.713000	0.84693	1.941000	0.56285	0.313000	0.20887	TCG	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466526.2		+	ENST00000262811.6	Missense_Mutation	SNP	19 : 18249831 - 18249831 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	36	4
HELB	92797	broad.mit.edu	37	12	66718889	66718889	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:66718889A>G	ENST00000247815.4	+	11	2712	c.2653A>G	c.(2653-2655)Act>Gct	p.T885A		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	885					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		ATGGGCAAGAACTATTCACAC	0.343		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	12		NA											NA				66718889		2203	4300	6503	SO:0001583	missense			AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311	92797	92797			17196	protein-coding gene	gene with protein product		614539			NA	12181327	Standard		NM_033647	NA	Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.2653A>G	12.37:g.66718889A>G	ENSP00000247815:p.Thr885Ala	NA	A8K4C9|Q4G0T2|Q9H7L5	37	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.631428	0.46944	.	.	ENSG00000127311	ENST00000247815	T	0.32023	1.47	5.42	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.46560	0.1399	M	0.94101	3.495	0.41065	D	0.985403	P	0.38978	0.652	B	0.39706	0.307	T	0.60110	-0.7327	9	.	.	.	-24.8586	12.2805	0.54760	0.8733:0.0:0.0:0.1267	.	885	Q8NG08	HELB_HUMAN	A	885	ENSP00000247815:T885A	.	T	+	1	0	HELB	65005156	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	7.295000	0.78780	2.190000	0.69967	0.496000	0.49642	ACT	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401919.1		+	ENST00000247815.4	Missense_Mutation	SNP	12 : 66718889 - 66718889 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	398	68
TRMT10B	158234	broad.mit.edu	37	9	37777645	37777645	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37777645G>T	ENST00000297994.3	+	9	957	c.892G>T	c.(892-894)Gca>Tca	p.A298S	TRMT10B_ENST00000377753.2_Missense_Mutation_p.A211S|TRMT10B_ENST00000377754.2_Missense_Mutation_p.A203S|RP11-613M10.9_ENST00000540557.1_Intron|TRMT10B_ENST00000537911.1_Missense_Mutation_p.A238S	NM_144964.2	NP_659401.2			tRNA methyltransferase 10 homolog B (S. cerevisiae)	NA											NA						CTGGCCTGAAGCATTGAAGAA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	125	129			NA	NA	9		NA											NA				37777645		1911	4118	6029	SO:0001583	missense			BC057774	CCDS43804.1, CCDS69598.1, CCDS69600.1, CCDS69601.1	9p13.1	2012-06-28	2012-06-28	2012-06-28	ENSG00000165275	ENSG00000165275	158234	158234			26454	protein-coding gene	gene with protein product			RNA (guanine-9-) methyltransferase domain containing 3	RG9MTD3	NA	14702039	Standard	NM_144964	XM_005251373	NA	Approved	FLJ31455, bA3J10.9	uc004aai.3	Q6PF06	OTTHUMG00000019933	ENST00000297994.3:c.892G>T	9.37:g.37777645G>T	ENSP00000297994:p.Ala298Ser	NA		37	CCDS43804.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.922755	0.92319	.	.	ENSG00000165275	ENST00000377753;ENST00000537911;ENST00000377754;ENST00000297994	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	5.54	5.54	0.83059	.	0.048316	0.85682	D	0.000000	T	0.45498	0.1345	M	0.67569	2.06	0.80722	D	1	P;D;P;B;B	0.54397	0.568;0.966;0.537;0.024;0.154	B;P;B;B;B	0.57468	0.166;0.821;0.385;0.086;0.362	T	0.28459	-1.0043	10	0.48119	T	0.1	-15.8789	16.9836	0.86335	0.0:0.0:1.0:0.0	.	178;211;238;203;298	B7Z9F7;B7Z216;B7Z3D3;Q6PF06-2;Q6PF06	.;.;.;.;RG9D3_HUMAN	S	211;238;203;298	ENSP00000366982:A211S;ENSP00000444997:A238S;ENSP00000366983:A203S;ENSP00000297994:A298S	ENSP00000297994:A298S	A	+	1	0	RG9MTD3	37767645	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.745000	0.68672	2.621000	0.88768	0.655000	0.94253	GCA	TRMT10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052482.1		+	ENST00000297994.3	Missense_Mutation	SNP	9 : 37777645 - 37777645 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	405	25
DPF2	5977	broad.mit.edu	37	11	65113775	65113775	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65113775G>A	ENST00000415073.2	+	5	497				DPF2_ENST00000528416.1_Missense_Mutation_p.R321H|DPF2_ENST00000252268.4_Missense_Mutation_p.R335H			Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	NA					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						AAGACATACCGCTGGCAGTGC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	114	128			NA	NA	11		NA											NA				65113775		2201	4297	6498	SO:0001627	intron_variant			U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884	5977	5977		Zinc fingers, PHD-type	9964	protein-coding gene	gene with protein product		601671	requiem, apoptosis response zinc finger gene	REQ	NA	11845289	Standard	NM_006268	NM_006268	NA	Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000415073.2:c.466-2546G>A	11.37:g.65113775G>A		NA	A8K7C9	37		.	.	.	.	.	.	.	.	.	.	G	36	5.825531	0.96996	.	.	ENSG00000133884	ENST00000528416;ENST00000252268	D;D	0.87412	-2.25;-2.25	5.62	5.62	0.85841	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (2);	0.000000	0.38381	N	0.001707	D	0.92805	0.7712	M	0.77820	2.39	0.80722	D	1	D	0.71674	0.998	D	0.63033	0.91	D	0.93216	0.6604	10	0.66056	D	0.02	-20.6648	17.1512	0.86778	0.0:0.0:1.0:0.0	.	321	Q92785	REQU_HUMAN	H	321;335	ENSP00000436901:R321H;ENSP00000252268:R335H	ENSP00000252268:R335H	R	+	2	0	DPF2	64870351	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.607000	0.74163	2.667000	0.90743	0.561000	0.74099	CGC	DPF2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000387294.2		+	ENST00000415073.2	Intron	SNP	11 : 65113775 - 65113775 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	242	60
LRPPRC	10128	broad.mit.edu	37	2	44121724	44121724	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44121724A>G	ENST00000260665.7	-	36	4002	c.3945T>C	c.(3943-3945)aaT>aaC	p.N1315N		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1315	RNA-binding.				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTTCCTTTTCATTTAATTCAG	0.269		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	75	73			NA	NA	2		NA											NA				44121724		2202	4282	6484	SO:0001819	synonymous_variant			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095	10128	10128			15714	protein-coding gene	gene with protein product		607544	Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)	LSFC	NA	8012652, 8619474, 22045337	Standard	NM_133259	NM_133259	NA	Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.3945T>C	2.37:g.44121724A>G		NA	A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	37	CCDS33189.1																																																																																			LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327823.1		-	ENST00000260665.7	Silent	SNP	2 : 44121724 - 44121724 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	405	53
NSDHL	50814	broad.mit.edu	37	X	152037363	152037363	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:152037363C>A	ENST00000370274.3	+	8	1019	c.825C>A	c.(823-825)ttC>ttA	p.F275L	NSDHL_ENST00000440023.1_Missense_Mutation_p.F275L	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	275					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	CCATCCCTTTCTGGACATTCC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													204	186	192			NA	NA	X		NA											NA				152037363		2203	4300	6503	SO:0001583	missense			X96621	CCDS14717.1	Xq28	2011-09-14			ENSG00000147383	ENSG00000147383	50814	50814	1.1.1.170	Short chain dehydrogenase/reductase superfamily / Extended SDR fold	13398	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 31E, member 1	300275			NA	10710235, 12837764, 19027726	Standard	NM_015922	NM_015922	NA	Approved	XAP104, H105e3, SDR31E1	uc004fgs.1	Q15738	OTTHUMG00000024185	ENST00000370274.3:c.825C>A	X.37:g.152037363C>A	ENSP00000359297:p.Phe275Leu	NA	D3DWT6|O00344	37	CCDS14717.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612523	0.66672	.	.	ENSG00000147383	ENST00000370274;ENST00000440023	D;D	0.84516	-1.86;-1.86	4.4	2.61	0.31194	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.87981	0.6315	L	0.55103	1.725	0.53688	D	0.99997	D	0.89917	1.0	D	0.97110	1.0	D	0.85511	0.1197	10	0.44086	T	0.13	-3.6346	7.5523	0.27804	0.0:0.778:0.0:0.222	.	275	Q15738	NSDHL_HUMAN	L	275	ENSP00000359297:F275L;ENSP00000391854:F275L	ENSP00000359297:F275L	F	+	3	2	NSDHL	151788019	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.659000	0.46741	0.957000	0.37930	-0.245000	0.11935	TTC	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060927.1		+	ENST00000370274.3	Missense_Mutation	SNP	X : 152037363 - 152037363 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1219	384
C3orf58	205428	broad.mit.edu	37	3	143691407	143691407	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:143691407G>A	ENST00000315691.3	+	1	768	c.233G>A	c.(232-234)gGc>gAc	p.G78D		NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	78						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAGGCGTGGGGCCGCTTGCGC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	34	33			NA	NA	3		NA											NA				143691407		2190	4271	6461	SO:0001583	missense			AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744	205428	205428			28490	protein-coding gene	gene with protein product	deleted in autism 1, hypoxia and Akt induced stem cell factor	612200			NA	21283809, 23784961, 24269490	Standard	NM_173552	NM_173552	NA	Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.233G>A	3.37:g.143691407G>A	ENSP00000320081:p.Gly78Asp	NA	B2RCF2	37	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641408	0.67244	.	.	ENSG00000181744	ENST00000315691	T	0.29917	1.55	3.81	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.35098	0.0920	L	0.41236	1.265	0.80722	D	1	D	0.54964	0.969	P	0.54431	0.752	T	0.05869	-1.0859	10	0.09590	T	0.72	.	15.8889	0.79276	0.0:0.0:1.0:0.0	.	78	Q8NDZ4	CC058_HUMAN	D	78	ENSP00000320081:G78D	ENSP00000320081:G78D	G	+	2	0	C3orf58	145174097	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.437000	0.90302	1.981000	0.57761	0.561000	0.74099	GGC	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355038.1		+	ENST00000315691.3	Missense_Mutation	SNP	3 : 143691407 - 143691407 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	370	60
UACA	55075	broad.mit.edu	37	15	70970491	70970491	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:70970491C>A	ENST00000322954.6	-	11	1131	c.946G>T	c.(946-948)Gaa>Taa	p.E316*	UACA_ENST00000379983.2_Nonsense_Mutation_p.E303*|UACA_ENST00000560441.1_Nonsense_Mutation_p.E303*|UACA_ENST00000539319.1_Nonsense_Mutation_p.E207*	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	316						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ATTCTTTGTTCTTGCTGAATT	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	114	116			NA	NA	15		NA											NA				70970491		2197	4292	6489	SO:0001587	stop_gained			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831	55075	55075		Ankyrin repeat domain containing	15947	protein-coding gene	gene with protein product		612516			NA	11162650, 10997877	Standard		NM_001008224	NA	Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.946G>T	15.37:g.70970491C>A	ENSP00000314556:p.Glu316*	NA	Q14DD3|Q8N3B8|Q9HCL1|Q9NWC6	37	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	C	40	8.384269	0.98786	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000395362;ENST00000539319	.	.	.	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-31.0907	17.5243	0.87795	0.0:1.0:0.0:0.0	.	.	.	.	X	316;303;303;207	.	ENSP00000314556:E316X	E	-	1	0	UACA	68757545	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.560000	0.73950	2.658000	0.90341	0.585000	0.79938	GAA	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257199.2		-	ENST00000322954.6	Nonsense_Mutation	SNP	15 : 70970491 - 70970491 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	254	16
ARHGAP32	9743	broad.mit.edu	37	11	128839218	128839218	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128839218G>A	ENST00000392657.3	-	13	5179	c.4801C>T	c.(4801-4803)Cga>Tga	p.R1601*	ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.R1601*|ARHGAP32_ENST00000310343.9_Nonsense_Mutation_p.R1950*|ARHGAP32_ENST00000524655.1_3'UTR	NM_014715.3	NP_055530.2	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1950	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ACCCAGGGTCGCTCCATCTCT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	85	85			NA	NA	11		NA											NA				128839218		2201	4297	6498	SO:0001587	stop_gained			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909	9743	9743		Rho GTPase activating proteins	17399	protein-coding gene	gene with protein product		608541			NA	12446789, 12819203, 17663722	Standard	NM_014715	NM_014715	NA	Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000392657.3:c.4801C>T	11.37:g.128839218G>A	ENSP00000376425:p.Arg1601*	NA	O94820|Q86YL6|Q8IUG4|Q9BWG3	37	CCDS31718.1	.	.	.	.	.	.	.	.	.	.	G	41	8.648363	0.98899	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	.	.	.	5.95	0.409	0.16382	.	0.091682	0.45867	D	0.000334	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1038	0.53801	0.0641:0.0:0.5541:0.3818	.	.	.	.	X	1950;1601;1601	.	ENSP00000310561:R1950X	R	-	1	2	ARHGAP32	128344428	0.640000	0.27243	0.274000	0.24659	0.971000	0.66376	0.127000	0.15790	-0.184000	0.10567	0.655000	0.94253	CGA	ARHGAP32-006	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386249.1		-	ENST00000392657.3	Nonsense_Mutation	SNP	11 : 128839218 - 128839218 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	572	125
FAN1	22909	broad.mit.edu	37	15	31202973	31202973	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31202973C>A	ENST00000362065.4	+	4	1823	c.1532C>A	c.(1531-1533)aCt>aAt	p.T511N	FAN1_ENST00000561607.1_Missense_Mutation_p.T511N|FAN1_ENST00000565466.1_Missense_Mutation_p.T511N|FAN1_ENST00000561594.1_Missense_Mutation_p.T511N	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	511					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	p.T511N(1)		autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						TCAGTCTGCACTTGGGGCAAG	0.413		NA						Direct reversal of damage						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											90	86	87			NA	NA	15		NA											NA				31202973		2202	4300	6502	SO:0001583	missense				CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690	22909	22909			29170	protein-coding gene	gene with protein product		613534	KIAA1018, myotubularin related protein 15	KIAA1018, MTMR15	NA	20603015, 20603016, 20603073	Standard	NM_014967	NM_014967	NA	Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.1532C>A	15.37:g.31202973C>A	ENSP00000354497:p.Thr511Asn	NA	A8K4M2|Q86WU8	37	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	C	9.520	1.108083	0.20714	.	.	ENSG00000198690	ENST00000362065	T	0.36878	1.23	5.6	1.21	0.21127	.	0.565661	0.20069	N	0.099906	T	0.18635	0.0447	L	0.29908	0.895	0.22819	N	0.998691	B;B;B	0.32350	0.009;0.037;0.366	B;B;B	0.30646	0.007;0.008;0.118	T	0.06534	-1.0821	10	0.27785	T	0.31	-4.9661	1.6852	0.02840	0.1502:0.4437:0.2224:0.1837	.	511;511;511	Q9Y2M0;D9MXF4;Q9Y2M0-2	FAN1_HUMAN;.;.	N	511	ENSP00000354497:T511N	ENSP00000354497:T511N	T	+	2	0	FAN1	28990265	0.525000	0.26290	0.600000	0.28864	0.198000	0.23893	0.843000	0.27640	0.742000	0.32697	-0.253000	0.11424	ACT	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000430740.1		+	ENST00000362065.4	Missense_Mutation	SNP	15 : 31202973 - 31202973 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	63
MAK16	84549	broad.mit.edu	37	8	33356000	33356000	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:33356000C>T	ENST00000360128.6	+	10	1213	c.756C>T	c.(754-756)tcC>tcT	p.S252S	TTI2_ENST00000519356.1_Intron	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN	MAK16 homolog (S. cerevisiae)	252						nucleolus				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						ATGGTAAATCCTCCAGTGAGG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	76	77			NA	NA	8		NA											NA				33356000		2203	4300	6503	SO:0001819	synonymous_variant			AF251062	CCDS6089.1	8p12	2011-10-13	2008-06-04	2008-06-04	ENSG00000198042	ENSG00000198042	84549	84549		RNA binding motif (RRM) containing	13703	protein-coding gene	gene with protein product			RNA binding motif protein 13	RBM13	NA		Standard	NM_032509	NM_032509	NA	Approved	MAK16L	uc003xjj.3	Q9BXY0	OTTHUMG00000163957	ENST00000360128.6:c.756C>T	8.37:g.33356000C>T		NA	B2RB44|Q5U5T1|Q86UC4|Q96SY6	37	CCDS6089.1																																																																																			MAK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376559.3		+	ENST00000360128.6	Silent	SNP	8 : 33356000 - 33356000 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	363	68
KIAA1549L	25758	broad.mit.edu	37	11	33564355	33564355	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33564355G>A	ENST00000321505.4	+	1	535	c.355G>A	c.(355-357)Gct>Act	p.A119T	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A119T|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.A119T					KIAA1549-like	NA											NA						GACCCATGAGGCTGAGCCTCC	0.522		NA									OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	38	37			NA	NA	11		NA											NA				33564355		1906	4111	6017	SO:0001583	missense			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427	25758	25758			24836	protein-coding gene	gene with protein product		612297	chromosome 11 open reading frame 69, chromosome 11 open reading frame 41	C11orf69, C11orf41	NA		Standard	NM_012194	NM_012194	NA	Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.355G>A	11.37:g.33564355G>A	ENSP00000315295:p.Ala119Thr	841		37	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	G	17.49	3.401602	0.62288	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654	.	.	.	5.4	4.47	0.54385	.	.	.	.	.	T	0.30135	0.0755	N	0.19112	0.55	0.09310	N	1	P;P	0.50156	0.689;0.932	B;P	0.48454	0.186;0.578	T	0.06607	-1.0817	8	0.23302	T	0.38	-2.2273	11.4266	0.50014	0.0:0.0:0.8195:0.1805	.	119;119	E9PAT2;Q6ZVL6-2	.;.	T	119	.	ENSP00000265654:A119T	A	+	1	0	C11orf41	33520931	0.238000	0.23825	0.025000	0.17156	0.780000	0.44128	1.243000	0.32767	1.243000	0.43853	0.561000	0.74099	GCT	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317998.1		+	ENST00000321505.4	Missense_Mutation	SNP	11 : 33564355 - 33564355 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	210	39
SLC26A4	5172	broad.mit.edu	37	7	107340571	107340571	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107340571C>A	ENST00000265715.3	+	15	1882	c.1658C>A	c.(1657-1659)cCt>cAt	p.P553H	SLC26A4_ENST00000544569.1_Missense_Mutation_p.P140H|SLC26A4_ENST00000543100.1_Missense_Mutation_p.P122H|SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000541474.1_Missense_Mutation_p.P114H	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	553	STAS.				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TTTTCCAGTCCTATTTTCTAT	0.313		NA							Pendred syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	121	120			NA	NA	7		NA											NA				107340571		2202	4299	6501	SO:0001583	missense	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137	5172	5172		Solute carriers	8818	protein-coding gene	gene with protein product	pendrin	605646	solute carrier family 26, member 4	DFNB4	NA	9500541, 11087667	Standard	NM_000441	NM_000441	NA	Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1658C>A	7.37:g.107340571C>A	ENSP00000265715:p.Pro553His	NA	O43170	37	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178307	0.78564	.	.	ENSG00000091137	ENST00000265715;ENST00000541474;ENST00000544569;ENST00000543100	D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81	5.55	5.55	0.83447	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.136203	0.49305	D	0.000151	D	0.94988	0.8378	M	0.78456	2.415	0.46849	D	0.999226	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.952;0.974;0.994	D	0.95261	0.8369	10	0.87932	D	0	.	15.0415	0.71793	0.0:0.8583:0.1417:0.0	.	114;140;553	F5H104;B7Z6M6;O43511	.;.;S26A4_HUMAN	H	553;114;140;122	ENSP00000265715:P553H;ENSP00000439743:P114H;ENSP00000437427:P140H;ENSP00000441209:P122H	ENSP00000265715:P553H	P	+	2	0	SLC26A4	107127807	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.847000	0.62867	2.624000	0.88883	0.563000	0.77884	CCT	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337148.1		+	ENST00000265715.3	Missense_Mutation	SNP	7 : 107340571 - 107340571 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	307	51
MICALL1	85377	broad.mit.edu	37	22	38308468	38308468	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38308468G>T	ENST00000215957.6	+	3	432	c.306G>T	c.(304-306)caG>caT	p.Q102H		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	102	CH.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					ATGTGTCCCAGTATTACAACC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	95	99			NA	NA	22		NA											NA				38308468		2203	4300	6503	SO:0001583	missense			BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139	85377	85377			29804	protein-coding gene	gene with protein product	molecule interacting with Rab13				NA	11258795, 12110185	Standard	NM_033386	NM_033386	NA	Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.306G>T	22.37:g.38308468G>T	ENSP00000215957:p.Gln102His	NA	Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	37	CCDS13961.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513329	0.85389	.	.	ENSG00000100139	ENST00000445494;ENST00000215957	D;D	0.95377	-2.12;-3.69	4.81	3.78	0.43462	Calponin homology domain (5);	0.563079	0.15342	N	0.267424	D	0.97701	0.9246	M	0.89414	3.03	0.80722	D	1	D	0.67145	0.996	D	0.70227	0.968	D	0.97047	0.9761	10	0.37606	T	0.19	.	13.8851	0.63704	0.0744:0.0:0.9256:0.0	.	102	Q8N3F8	MILK1_HUMAN	H	18;102	ENSP00000404543:Q18H;ENSP00000215957:Q102H	ENSP00000215957:Q102H	Q	+	3	2	MICALL1	36638414	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.548000	0.67255	1.395000	0.46643	0.632000	0.83419	CAG	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319545.4		+	ENST00000215957.6	Missense_Mutation	SNP	22 : 38308468 - 38308468 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	504	55
SLC25A1	6576	broad.mit.edu	37	22	19163678	19163678	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19163678C>T	ENST00000215882.5	-	9	1057	c.901G>A	c.(901-903)Gtg>Atg	p.V301M	SLC25A1_ENST00000451283.1_Missense_Mutation_p.V198M	NM_005984.3	NP_005975.1	P53007	TXTP_HUMAN	solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1	301					gluconeogenesis|long-chain fatty-acyl-CoA biosynthetic process|mitochondrial citrate transport|triglyceride biosynthetic process	integral to membrane|mitochondrial inner membrane	citrate transmembrane transporter activity|protein binding			cervix(1)|lung(1)	2	Colorectal(54;0.0993)	all_lung(157;9.94e-09)		Lung(27;0.124)		AGCAGCTTCACCACTTCATCA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	96	97			NA	NA	22		NA											NA				19163678		2203	4300	6503	SO:0001583	missense			U25147	CCDS13758.1, CCDS74817.1	22q11	2013-05-22			ENSG00000100075	ENSG00000100075	6576	6576		Solute carriers	10979	protein-coding gene	gene with protein product		190315	solute carrier family 20 (mitochondrial citrate transporter), member 3	SLC20A3	NA	8666394, 9254007	Standard	NM_005984	NM_001256534	NA	Approved	CTP	uc002zoz.4	P53007	OTTHUMG00000150123	ENST00000215882.5:c.901G>A	22.37:g.19163678C>T	ENSP00000215882:p.Val301Met	NA	A8K8E8|Q9BSK6	37	CCDS13758.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.640612	0.29157	.	.	ENSG00000100075	ENST00000215882;ENST00000451283	T;T	0.79141	-1.24;-1.24	5.12	5.12	0.69794	Mitochondrial carrier domain (1);	0.000000	0.85682	D	0.000000	T	0.56470	0.1987	N	0.03294	-0.36	0.80722	D	1	B;B	0.22683	0.073;0.073	B;B	0.25987	0.065;0.065	T	0.57802	-0.7748	10	0.02654	T	1	-17.2283	18.7549	0.91828	0.0:1.0:0.0:0.0	.	308;301	D9HTE9;P53007	.;TXTP_HUMAN	M	301;198	ENSP00000215882:V301M;ENSP00000401480:V198M	ENSP00000215882:V301M	V	-	1	0	SLC25A1	17543678	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	7.596000	0.82721	2.661000	0.90470	0.561000	0.74099	GTG	SLC25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316441.1		-	ENST00000215882.5	Missense_Mutation	SNP	22 : 19163678 - 19163678 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	684	105
GNL2	29889	broad.mit.edu	37	1	38040330	38040330	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38040330T>C	ENST00000373062.3	-	11	1336	c.1238A>G	c.(1237-1239)gAt>gGt	p.D413G		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	413					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				CTCCCAAGAATCAATCTTGTA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	91	93			NA	NA	1		NA											NA				38040330		2203	4300	6503	SO:0001583	missense			L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697	29889	29889			29925	protein-coding gene	gene with protein product		609365			NA	8822211	Standard	NM_013285	NM_013285	NA	Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.1238A>G	1.37:g.38040330T>C	ENSP00000362153:p.Asp413Gly	NA	Q9BWN7	37	CCDS421.1	.	.	.	.	.	.	.	.	.	.	T	16.83	3.230874	0.58777	.	.	ENSG00000134697	ENST00000373062	T	0.59502	0.26	5.87	5.87	0.94306	GTP-binding protein, orthogonal bundle domain (1);	0.285499	0.44902	D	0.000415	T	0.57799	0.2078	L	0.60455	1.87	0.42968	D	0.994427	B	0.30973	0.302	B	0.32928	0.155	T	0.58940	-0.7547	10	0.51188	T	0.08	-15.827	16.5764	0.84681	0.0:0.0:0.0:1.0	.	413	Q13823	NOG2_HUMAN	G	413	ENSP00000362153:D413G	ENSP00000362153:D413G	D	-	2	0	GNL2	37812917	1.000000	0.71417	0.993000	0.49108	0.982000	0.71751	5.340000	0.65958	2.371000	0.80710	0.533000	0.62120	GAT	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000012478.1		-	ENST00000373062.3	Missense_Mutation	SNP	1 : 38040330 - 38040330 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	277	8
PLXNA2	5362	broad.mit.edu	37	1	208390732	208390732	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208390732T>A	ENST00000367033.3	-	2	1293	c.536A>T	c.(535-537)gAt>gTt	p.D179V		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	179	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GAGCTTGCCATCCTCACCCTC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	146	146			NA	NA	1		NA											NA				208390732		2203	4300	6503	SO:0001583	missense			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356	5362	5362		Plexins	9100	protein-coding gene	gene with protein product	plexin 2, plexin-A2, semaphorin receptor OCT, transmembrane protein OCT	601054		PLXN2	NA	8570614	Standard	NM_025179	NM_025179	NA	Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.536A>T	1.37:g.208390732T>A	ENSP00000356000:p.Asp179Val	NA	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	37	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	T	7.667	0.686145	0.14973	.	.	ENSG00000076356	ENST00000367033	T	0.04234	3.67	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	.	.	.	.	T	0.08802	0.0218	L	0.59436	1.845	0.80722	D	1	P;B	0.40282	0.711;0.209	B;B	0.39379	0.298;0.109	T	0.03662	-1.1015	9	0.54805	T	0.06	.	15.9771	0.80076	0.0:0.0:0.0:1.0	.	233;179	O75051-2;O75051	.;PLXA2_HUMAN	V	179	ENSP00000356000:D179V	ENSP00000356000:D179V	D	-	2	0	PLXNA2	206457355	1.000000	0.71417	0.532000	0.27989	0.096000	0.18686	7.751000	0.85126	2.178000	0.69098	0.460000	0.39030	GAT	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088932.6		-	ENST00000367033.3	Missense_Mutation	SNP	1 : 208390732 - 208390732 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1247	402
MUC2	4583	broad.mit.edu	37	11	1080508	1080508	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1080508G>T	ENST00000441003.2	+	9	1177	c.1150G>T	c.(1150-1152)Gac>Tac	p.D384Y	MUC2_ENST00000359061.5_Missense_Mutation_p.D384Y	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	384						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGTGTGCAAAGACCTGCCCTG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	24	22			NA	NA	11		NA											NA				1080508		2053	4179	6232	SO:0001583	missense			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788	4583	4583		Mucins	7512	protein-coding gene	gene with protein product		158370	mucin 2, intestinal/tracheal		NA	15081123	Standard	NM_002457	NM_002457	NA	Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.1150G>T	11.37:g.1080508G>T	ENSP00000415183:p.Asp384Tyr	NA	Q14878	37		.	.	.	.	.	.	.	.	.	.	G	13.38	2.221035	0.39201	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.65178	-0.14;-0.14	4.25	4.25	0.50352	.	0.471651	0.19231	U	0.119405	T	0.73976	0.3656	M	0.80183	2.485	0.23611	N	0.997291	P	0.38800	0.648	P	0.47786	0.557	T	0.70285	-0.4914	10	0.87932	D	0	.	16.817	0.85736	0.0:0.0:1.0:0.0	.	384	E7EUV1	.	Y	384	ENSP00000415183:D384Y;ENSP00000351956:D384Y	ENSP00000351956:D384Y	D	+	1	0	MUC2	1070508	0.992000	0.36948	0.858000	0.33744	0.944000	0.59088	4.831000	0.62752	2.219000	0.72066	0.491000	0.48974	GAC	MUC2-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000345894.2		+	ENST00000441003.2	Missense_Mutation	SNP	11 : 1080508 - 1080508 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	78	10
GPR148	344561	broad.mit.edu	37	2	131486811	131486811	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131486811C>A	ENST00000309926.4	+	1	169	c.87C>A	c.(85-87)ccC>ccA	p.P29P		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	29				CMPQAASNTSLGLGDLRVPSSMLYWLFLPSSLLAAA -> S S (in Ref. 2; AAP34196).		integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CCTGCATGCCCCAAGCAGCCA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	85	86			NA	NA	2		NA											NA				131486811		2203	4300	6503	SO:0001819	synonymous_variant			AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302	344561	344561		GPCR / Class A : Orphans	23623	protein-coding gene	gene with protein product					NA	12679517	Standard	XM_293092	NM_207364	NA	Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.87C>A	2.37:g.131486811C>A		NA	Q2M369|Q86SP7|Q86U87	37	CCDS2163.1																																																																																			GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254552.3		+	ENST00000309926.4	Silent	SNP	2 : 131486811 - 131486811 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	624	65
DDX39B	7919	broad.mit.edu	37	6	31498650	31498650	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31498650G>A	ENST00000376177.2	-	9	1202	c.1199C>T	c.(1198-1200)cCg>cTg	p.P400L	DDX39B_ENST00000458640.1_Silent_p.S392S|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000417556.2_Silent_p.S407S|DDX39B_ENST00000396172.1_Silent_p.S392S|DDX39B_ENST00000415382.2_Silent_p.S314S|DDX39B_ENST00000462421.1_5'UTR			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	0	Helicase C-terminal.				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CATTCTCATCGGACACAAATG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	79	79			NA	NA	6		NA											NA				31498650		1511	2709	4220	SO:0001583	missense			Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563	7919	7919		DEAD-boxes	13917	protein-coding gene	gene with protein product	U2AF65-associated protein 56	142560	HLA-B associated transcript 1	BAT1	NA	7601445, 2813433	Standard	NM_004640	NM_004640	NA	Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000376177.2:c.1199C>T	6.37:g.31498650G>A	ENSP00000365347:p.Pro400Leu	NA	B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	37		.	.	.	.	.	.	.	.	.	.	G	10.22	1.290459	0.23478	.	.	ENSG00000198563	ENST00000376177;ENST00000417023	T	0.35236	1.32	4.53	-2.15	0.07102	.	.	.	.	.	T	0.09992	0.0245	.	.	.	0.80722	D	1	B	0.13594	0.008	B	0.10450	0.005	T	0.21895	-1.0232	8	0.87932	D	0	-4.6826	1.7197	0.02909	0.1451:0.353:0.1557:0.3463	.	400	Q5STU3	.	L	400;156	ENSP00000365347:P400L	ENSP00000365347:P400L	P	-	2	0	DDX39B	31606629	0.001000	0.12720	0.988000	0.46212	0.873000	0.50193	-1.972000	0.01502	-0.576000	0.05974	-1.461000	0.01025	CCG	DDX39B-006	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000259086.1		-	ENST00000376177.2	Missense_Mutation	SNP	6 : 31498650 - 31498650 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	353	63
B4GALNT3	283358	broad.mit.edu	37	12	665887	665887	+	Silent	SNP	C	C	T	rs139340276	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:665887C>T	ENST00000266383.5	+	15	2248	c.2235C>T	c.(2233-2235)gtC>gtT	p.V745V		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	745						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GGGAGGAGGTCGAGGCCCGGA	0.637		NA											C	2	9e-04	NA	0.01	2184	NA	0.9999	,	,	NA	4e-04	NA	NA	NA	0.001	0.9336	LOWCOV,EXOME	NA	NA	0.004	SNP								NA				0								C		4,4402	8.1+/-20.4	0,4,2199	48	46	47		2235	-11	0	12	dbSNP_134	47	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	B4GALNT3	NM_173593.3		0,7,6496	TT,TC,CC	NA	0.0349,0.0908,0.0538		745/999	665887	7,12999	2203	4300	6503	SO:0001819	synonymous_variant			AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	283358	283358	2.4.1.-	Beta 4-glycosyltransferases	24137	protein-coding gene	gene with protein product		612220			NA	12966086	Standard	NM_173593	NM_173593	NA	Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.2235C>T	12.37:g.665887C>T		NA	Q6ZNC1|Q8N7T6	37	CCDS8504.1																																																																																			B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251406.2		+	ENST00000266383.5	Silent	SNP	12 : 665887 - 665887 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	202	45
IPO4	79711	broad.mit.edu	37	14	24651000	24651000	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24651000G>A	ENST00000354464.6	-	27	3033	c.2857C>T	c.(2857-2859)Cga>Tga	p.R953*	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	953					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CGATCATGTCGCTCCCGCGCC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	78	75			NA	NA	14		NA											NA				24651000		2043	4196	6239	SO:0001587	stop_gained			AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497	79711	79711		Importins	19426	protein-coding gene	gene with protein product					NA	11823430	Standard	NM_024658	NR_051979	NA	Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.2857C>T	14.37:g.24651000G>A	ENSP00000346453:p.Arg953*	NA	B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	37	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451090	0.84209	.	.	ENSG00000196497	ENST00000354464;ENST00000399536	.	.	.	5.97	5.08	0.68730	.	0.224065	0.40908	D	0.000990	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-15.6638	15.4355	0.75143	0.0:0.0:0.8595:0.1405	.	.	.	.	X	953;629	.	ENSP00000346453:R953X	R	-	1	2	IPO4	23720840	0.999000	0.42202	1.000000	0.80357	0.929000	0.56500	1.486000	0.35530	0.873000	0.35799	-0.808000	0.03180	CGA	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071931.4		-	ENST00000354464.6	Nonsense_Mutation	SNP	14 : 24651000 - 24651000 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	328	65
USP42	84132	broad.mit.edu	37	7	6196451	6196451	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6196451G>T	ENST00000306177.5	+	16	3866	c.3708G>T	c.(3706-3708)aaG>aaT	p.K1236N		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	1236	Lys-rich.				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		ACAAAAAAAAGAAGAAGAAAA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	35	34			NA	NA	7		NA											NA				6196451		2002	4206	6208	SO:0001583	missense			AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346	84132	84132		Ubiquitin-specific peptidases	20068	protein-coding gene	gene with protein product			ubiquitin specific protease 42		NA	12838346	Standard	XM_166526	NM_032172	NA	Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.3708G>T	7.37:g.6196451G>T	ENSP00000301962:p.Lys1236Asn	NA	A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	37	CCDS47535.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749452	0.69533	.	.	ENSG00000106346	ENST00000306177	T	0.37584	1.19	5.77	3.95	0.45737	.	0.000000	0.64402	D	0.000005	T	0.45458	0.1343	L	0.34521	1.04	0.30744	N	0.745851	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	T	0.48502	-0.9030	10	0.87932	D	0	.	8.7888	0.34837	0.242:0.0:0.758:0.0	.	1132;1236;1236	A4D2N7;Q9H9J4-2;Q9H9J4	.;.;UBP42_HUMAN	N	1236	ENSP00000301962:K1236N	ENSP00000301962:K1236N	K	+	3	2	USP42	6162976	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	1.228000	0.32588	0.783000	0.33636	-0.157000	0.13467	AAG	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324262.3		+	ENST00000306177.5	Missense_Mutation	SNP	7 : 6196451 - 6196451 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	141	23
LYPD4	147719	broad.mit.edu	37	19	42342983	42342983	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42342983G>A	ENST00000330743.3	-	3	1394	c.183C>T	c.(181-183)tgC>tgT	p.C61C	LYPD4_ENST00000601246.1_Intron|LYPD4_ENST00000343055.4_Intron	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	61						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						GCGTCTCCTCGCAGCCCTCTT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	149	154			NA	NA	19		NA											NA				42342983		2203	4300	6503	SO:0001819	synonymous_variant			AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111	147719	147719			28659	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_173506	XM_005278383	NA	Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.183C>T	19.37:g.42342983G>A		NA	Q8IYW0	37	CCDS12587.1																																																																																			LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463039.1		-	ENST00000330743.3	Silent	SNP	19 : 42342983 - 42342983 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	737	152
RBM19	9904	broad.mit.edu	37	12	114282486	114282486	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:114282486G>A	ENST00000545145.2	-	23	2850	c.2772C>T	c.(2770-2772)gcC>gcT	p.A924A	RBM19_ENST00000261741.5_Silent_p.A924A|RBM19_ENST00000392561.3_Silent_p.A924A	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	924					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GAAAGTGAGCGGCCGTCTTCC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								A	,,	0,4406		0,0,2203	35	32	33		2772,2772,2772	-10.2	0	12		33	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	RBM19	NM_001146698.1,NM_001146699.1,NM_016196.3	,,	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	,,	924/961,924/961,924/961	114282486	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965	9904	9904		RNA binding motif (RRM) containing	29098	protein-coding gene	gene with protein product					NA	9734811, 11230166	Standard	NM_016196	NM_016196	NA	Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.2772C>T	12.37:g.114282486G>A		NA	Q9BPY6|Q9UFN5	37	CCDS9172.1																																																																																			RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405251.1		-	ENST00000545145.2	Silent	SNP	12 : 114282486 - 114282486 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	160	44
MOCS3	27304	broad.mit.edu	37	20	49575496	49575496	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:49575496G>A	ENST00000244051.1	+	1	134	c.117G>A	c.(115-117)caG>caA	p.Q39Q		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	39					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						AGGAACCGCAGCCAGAACGGC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	47	45			NA	NA	20		NA											NA				49575496		2179	4249	6428	SO:0001819	synonymous_variant			AF102544	CCDS13435.1	20q13.13	2011-06-28			ENSG00000124217	ENSG00000124217	27304	27304		Ubiquitin-like modifier activating enzymes	15765	protein-coding gene	gene with protein product	ubiquitin-like modifier activating enzyme 4, UBA4, ubiquitin-activating enzyme E1 homolog (yeast)	609277			NA	15910006	Standard	NM_014484	NM_014484	NA	Approved	UBA4, dJ914P20.3	uc002xvy.2	O95396	OTTHUMG00000032741	ENST00000244051.1:c.117G>A	20.37:g.49575496G>A		NA		37	CCDS13435.1																																																																																			MOCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079715.2		+	ENST00000244051.1	Silent	SNP	20 : 49575496 - 49575496 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	619	47
HYAL1	3373	broad.mit.edu	37	3	50339672	50339672	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50339672C>A	ENST00000266031.4	-	1	1331	c.716G>T	c.(715-717)aGc>aTc	p.S239I	HYAL1_ENST00000395143.2_Missense_Mutation_p.S239I|HYAL1_ENST00000395144.2_Missense_Mutation_p.S239I|HYAL1_ENST00000457214.2_Missense_Mutation_p.S57I|HYAL1_ENST00000320295.8_Missense_Mutation_p.S239I|HYAL1_ENST00000447605.2_Intron			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	239						extracellular space|lysosome	hyalurononglucosaminidase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	GAGGGCACGGCTCTGGCCCCA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	48	50			NA	NA	3		NA											NA				50339672		2203	4300	6503	SO:0001583	missense			U90094	CCDS2816.1, CCDS2817.1, CCDS46832.1, CCDS46833.1	3p21.31	2014-07-17			ENSG00000114378	ENSG00000114378	3373	3373	3.2.1.35		5320	protein-coding gene	gene with protein product		607071			NA	9223416, 9409739	Standard		NM_153281	NA	Approved	LUCA1, HYAL-1, FUS2, NAT6	uc003czp.4	Q12794	OTTHUMG00000156941	ENST00000266031.4:c.716G>T	3.37:g.50339672C>A	ENSP00000266031:p.Ser239Ile	NA	Q6FH23|Q6PIZ6|Q7KYU2|Q7LE34|Q8NFK5|Q8NFK6|Q8NFK7|Q8NFK8|Q8NFK9|Q93013|Q9UKD5|Q9UNI8	37	CCDS2816.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464857	0.63513	.	.	ENSG00000114378	ENST00000395144;ENST00000266031;ENST00000320295;ENST00000395143;ENST00000457214	T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67	5.46	5.46	0.80206	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.079607	0.85682	D	0.000000	T	0.67325	0.2881	M	0.94021	3.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.76680	-0.2870	10	0.87932	D	0	-32.4736	17.8882	0.88863	0.0:1.0:0.0:0.0	.	239;239;239	Q12794-7;Q12794-2;Q12794	.;.;HYAL1_HUMAN	I	239;239;239;239;57	ENSP00000378576:S239I;ENSP00000266031:S239I;ENSP00000346068:S239I;ENSP00000378575:S239I;ENSP00000393358:S57I	ENSP00000266031:S239I	S	-	2	0	HYAL1	50314676	1.000000	0.71417	0.894000	0.35097	0.412000	0.31113	3.976000	0.56867	2.585000	0.87301	0.655000	0.94253	AGC	HYAL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346703.1		-	ENST00000266031.4	Missense_Mutation	SNP	3 : 50339672 - 50339672 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	287	23
KCNK3	3777	broad.mit.edu	37	2	26950898	26950898	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26950898C>T	ENST00000302909.3	+	2	772	c.647C>T	c.(646-648)aCg>aTg	p.T216M		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	216					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCCTGCAGACGCAGCCGCAG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(80;1457 1631 27100 45946)							NA				0													80	63	69			NA	NA	2		NA											NA				26950898		2203	4300	6503	SO:0001583	missense			AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303	3777	3777		Potassium channels, Voltage-gated ion channels / Potassium channels, Two-P	6278	protein-coding gene	gene with protein product		603220			NA	9312005, 9721223, 16382106	Standard	NM_002246	NM_002246	NA	Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.647C>T	2.37:g.26950898C>T	ENSP00000306275:p.Thr216Met	NA	Q53SU2	37	CCDS1727.1	.	.	.	.	.	.	.	.	.	.	c	17.25	3.341845	0.61073	.	.	ENSG00000171303	ENST00000538762;ENST00000302909	T	0.25250	1.81	4.72	4.72	0.59763	Ion transport 2 (1);	0.255913	0.36893	N	0.002358	T	0.36441	0.0967	L	0.38175	1.15	0.46044	D	0.99883	P	0.50272	0.933	P	0.56788	0.806	T	0.11991	-1.0565	10	0.62326	D	0.03	.	15.5289	0.75936	0.0:1.0:0.0:0.0	.	216	O14649	KCNK3_HUMAN	M	93;216	ENSP00000306275:T216M	ENSP00000306275:T216M	T	+	2	0	KCNK3	26804402	0.971000	0.33674	1.000000	0.80357	0.994000	0.84299	1.475000	0.35409	2.303000	0.77524	0.556000	0.70494	ACG	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000246861.2		+	ENST00000302909.3	Missense_Mutation	SNP	2 : 26950898 - 26950898 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	49
CDAN1	146059	broad.mit.edu	37	15	43027493	43027493	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43027493C>A	ENST00000356231.3	-	5	1046	c.1023G>T	c.(1021-1023)aaG>aaT	p.K341N		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	341						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GGTCGCTGTCCTTGGCAGTCA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	36	36			NA	NA	15		NA											NA				43027493		2203	4299	6502	SO:0001583	missense			AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326	146059	146059			1713	protein-coding gene	gene with protein product		607465	congenital dyserythropoietic anemia, type I		NA	8634422, 12434312	Standard	XM_085300	XM_005254177	NA	Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.1023G>T	15.37:g.43027493C>A	ENSP00000348564:p.Lys341Asn	NA	Q6NYD0|Q7Z7L5|Q969N3	37	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.384808	0.25031	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.86694	-2.16	5.94	2.65	0.31530	.	0.252628	0.45867	D	0.000321	T	0.80358	0.4608	L	0.29908	0.895	0.33438	D	0.581967	P	0.37276	0.589	B	0.39027	0.288	D	0.83626	0.0142	10	0.51188	T	0.08	-9.1438	11.5676	0.50815	0.0:0.7932:0.0:0.2068	.	341	Q8IWY9	CDAN1_HUMAN	N	341;339	ENSP00000348564:K341N	ENSP00000267892:K339N	K	-	3	2	CDAN1	40814785	0.710000	0.27896	0.810000	0.32431	0.414000	0.31173	0.783000	0.26802	0.874000	0.35823	0.561000	0.74099	AAG	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000431103.1		-	ENST00000356231.3	Missense_Mutation	SNP	15 : 43027493 - 43027493 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	88	13
UFM1	51569	broad.mit.edu	37	13	38924356	38924356	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38924356C>T	ENST00000379649.1	+	2	292	c.105C>T	c.(103-105)tgC>tgT	p.C35C	UFM1_ENST00000239878.4_Intron|UFM1_ENST00000379641.1_Silent_p.C35C			P61960	UFM1_HUMAN	ubiquitin-fold modifier 1	0					protein ufmylation	cytoplasm|nucleus	protein binding			lung(2)|ovary(1)	3		Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132)		CCGGAGCCTGCGAGGAGAGGT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	19	19			NA	NA	13		NA											NA				38924356		876	1991	2867	SO:0001819	synonymous_variant			AF208844	CCDS9366.1, CCDS66533.1	13q13.3	2008-02-05	2005-05-27	2005-05-27	ENSG00000120686	ENSG00000120686	51569	51569			20597	protein-coding gene	gene with protein product		610553	chromosome 13 open reading frame 20	C13orf20	NA	15071506	Standard	NM_016617	NM_001286706	NA	Approved	bA131P10.1	uc001uwu.3	P61960	OTTHUMG00000017409	ENST00000379649.1:c.105C>T	13.37:g.38924356C>T		NA	Q14346|Q5VXS0|Q6IAG6|Q9CPX2|Q9NZF2	37																																																																																				UFM1-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000045991.1		+	ENST00000379649.1	Silent	SNP	13 : 38924356 - 38924356 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	89	10
RAB28	9364	broad.mit.edu	37	4	13371502	13371502	+	Nonstop_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13371502A>G	ENST00000288723.4	-	7	875	c.661T>C	c.(661-663)Tag>Cag	p.*221Q	RAB28_ENST00000338176.4_Intron|RAB28_ENST00000330852.5_Intron	NM_004249.3	NP_004240.2	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family	0					small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						TACCTGCACTACTGTACTGAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	135	141			NA	NA	4		NA											NA				13371502		2203	4300	6503	SO:0001578	stop_lost			X94703	CCDS3409.1, CCDS33961.1, CCDS54741.1	4p16.1	2014-04-24			ENSG00000157869	ENSG00000157869	9364	9364		RAB, member RAS oncogene	9768	protein-coding gene	gene with protein product		612994			NA	8647132	Standard	NM_001017979	NM_004249	NA	Approved		uc003gmu.2	P51157	OTTHUMG00000090543	ENST00000288723.4:c.661T>C	4.37:g.13371502A>G	ENSP00000288723:p.*221Gluext*5	NA	Q8IYR8|Q8NI05	37	CCDS3409.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.44|15.44	2.835416|2.835416	0.50951|0.50951	.|.	.|.	ENSG00000157869|ENSG00000157869	ENST00000511649|ENST00000288723	.|.	.|.	.|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|.	.|.	.|.	.|.	T|.	0.71863|.	0.3390|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.71002|.	-0.4718|.	4|.	.|.	.|.	.|.	.|.	15.6647|15.6647	0.77221|0.77221	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	A|Q	143|221	.|.	.|.	V|X	-|-	2|1	0|0	RAB28|RAB28	12980600|12980600	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	7.162000|7.162000	0.77515|0.77515	2.185000|2.185000	0.69588|0.69588	0.482000|0.482000	0.46254|0.46254	GTA|TAG	RAB28-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207069.1		-	ENST00000288723.4	Nonstop_Mutation	SNP	4 : 13371502 - 13371502 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	413	81
NRCAM	4897	broad.mit.edu	37	7	107825029	107825029	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107825029G>T	ENST00000379024.4	-	20	2417	c.2008C>A	c.(2008-2010)Cac>Aac	p.H670N	NRCAM_ENST00000425651.2_Missense_Mutation_p.H689N|NRCAM_ENST00000351718.4_Missense_Mutation_p.H673N|NRCAM_ENST00000379022.4_Missense_Mutation_p.H689N|NRCAM_ENST00000413765.2_Missense_Mutation_p.H670N|NRCAM_ENST00000379028.3_Missense_Mutation_p.H689N	NM_001193582.1|NM_001193583.1|NM_001193584.1	NP_001180511.1|NP_001180512.1|NP_001180513.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	689	Fibronectin type-III 1.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CCTGGCTTGTGCATTGCATCT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	73	74			NA	NA	7		NA											NA				107825029		2203	4300	6503	SO:0001583	missense				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129	4897	4897		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	7994	protein-coding gene	gene with protein product	NgCAM-related cell adhesion molecule	601581			NA	8812479	Standard	NM_001037132	NM_001037132	NA	Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000379024.4:c.2008C>A	7.37:g.107825029G>T	ENSP00000368310:p.His670Asn	NA	A4D0S3|O15051|O15179|Q9UHI3|Q9UHI4	37	CCDS55153.1	.	.	.	.	.	.	.	.	.	.	G	9.928	1.213949	0.22289	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979	T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47	5.46	4.53	0.55603	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.049726	0.85682	D	0.000000	T	0.39091	0.1065	N	0.21324	0.655	0.80722	D	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.14023	0.008;0.005;0.01;0.006;0.004	T	0.15925	-1.0420	10	0.27785	T	0.31	.	15.0261	0.71671	0.0:0.0:0.8572:0.1428	.	689;670;670;673;689	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	N	689;689;670;689;673;670;689;689;673	ENSP00000368314:H689N;ENSP00000407858:H670N;ENSP00000325269:H673N;ENSP00000368310:H670N;ENSP00000401244:H689N;ENSP00000368308:H689N	ENSP00000325269:H673N	H	-	1	0	NRCAM	107612265	1.000000	0.71417	1.000000	0.80357	0.144000	0.21451	6.734000	0.74801	2.548000	0.85928	0.591000	0.81541	CAC	NRCAM-001	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337863.2		-	ENST00000379024.4	Missense_Mutation	SNP	7 : 107825029 - 107825029 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	182	32
PTPRB	5787	broad.mit.edu	37	12	70953185	70953185	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70953185T>G	ENST00000550358.1	-	17	4413	c.4388A>C	c.(4387-4389)aAg>aCg	p.K1463T	PTPRB_ENST00000451516.2_Missense_Mutation_p.K1243T|PTPRB_ENST00000538708.1_Missense_Mutation_p.K1243T|PTPRB_ENST00000551525.1_Missense_Mutation_p.K1550T|PTPRB_ENST00000334414.6_Missense_Mutation_p.K1551T|PTPRB_ENST00000550857.1_Missense_Mutation_p.K1243T|PTPRB_ENST00000261266.5_Missense_Mutation_p.K1333T			P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1333	Fibronectin type-III 17.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACTGACAGTCTTGACGTTGAA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													234	229	231			NA	NA	12		NA											NA				70953185		1963	4142	6105	SO:0001583	missense			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11					NA	5787		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing	9665	protein-coding gene	gene with protein product		176882		PTPB	NA	2169617	Standard		NM_001109754	NA	Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000550358.1:c.4388A>C	12.37:g.70953185T>G	ENSP00000448058:p.Lys1463Thr	NA	B7ZKT0|C9JX87|Q14D85|Q3MIV7	37		.	.	.	.	.	.	.	.	.	.	T	9.706	1.155820	0.21454	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525	T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.84	-0.86	0.10680	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.323996	0.35151	N	0.003420	T	0.35566	0.0936	L	0.36672	1.1	0.28383	N	0.919434	B;B;B;B;B;P	0.39060	0.222;0.12;0.03;0.101;0.07;0.657	B;B;B;B;B;B	0.36922	0.173;0.173;0.049;0.171;0.18;0.236	T	0.34104	-0.9842	10	0.21540	T	0.41	.	10.3196	0.43758	0.0:0.5443:0.0:0.4557	.	1243;1243;1550;1551;1333;1463	P23467-2;F5H3G6;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;PTPRB_HUMAN;.	T	1551;1243;1463;1243;1243;1333;1550	ENSP00000334928:K1551T;ENSP00000393028:K1243T;ENSP00000448058:K1463T;ENSP00000438927:K1243T;ENSP00000447302:K1243T;ENSP00000261266:K1333T;ENSP00000448349:K1550T	ENSP00000261266:K1333T	K	-	2	0	PTPRB	69239452	0.999000	0.42202	0.994000	0.49952	0.639000	0.38242	0.880000	0.28159	-0.098000	0.12285	-0.290000	0.09829	AAG	PTPRB-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000404436.1		-	ENST00000550358.1	Missense_Mutation	SNP	12 : 70953185 - 70953185 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	990	212
CDH1	999	broad.mit.edu	37	16	68863587	68863587	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68863587C>A	ENST00000261769.5	+	15	2517	c.2326C>A	c.(2326-2328)Ctg>Atg	p.L776M	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.L715M	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	776					adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GCACAGGGGCCTGGACGCTCG	0.507		NA	Mis, N, F, S		lobular breast, gastric	gastric			Hereditary Diffuse Gastric Cancer					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	cadherin 1, type 1, E-cadherin (epithelial) (ECAD)		E	0													74	63	67			NA	NA	16		NA											NA				68863587		2198	4300	6498	SO:0001583	missense	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068	999	999		CD molecules, Cadherins / Major cadherins	1748	protein-coding gene	gene with protein product	E-Cadherin	192090		UVO	NA	9925936	Standard	NM_004360	NM_004360	NA	Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.2326C>A	16.37:g.68863587C>A	ENSP00000261769:p.Leu776Met	NA	Q13799|Q14216|Q15855|Q16194|Q4PJ14	37	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753410	0.89753	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000422392	T;T	0.77358	-1.09;-1.09	5.94	5.94	0.96194	Cadherin, cytoplasmic domain (1);	0.000000	0.40064	N	0.001183	D	0.88100	0.6346	M	0.71296	2.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86591	0.1860	10	0.46703	T	0.11	.	19.9583	0.97232	0.0:1.0:0.0:0.0	.	715;776	Q9UII8;P12830	.;CADH1_HUMAN	M	776;794;715	ENSP00000261769:L776M;ENSP00000414946:L715M	ENSP00000261769:L776M	L	+	1	2	CDH1	67421088	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	4.855000	0.62925	2.826000	0.97356	0.561000	0.74099	CTG	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268897.2		+	ENST00000261769.5	Missense_Mutation	SNP	16 : 68863587 - 68863587 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	57
SLC39A12	221074	broad.mit.edu	37	10	18250690	18250690	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18250690C>T	ENST00000377371.3	+	3	640	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	SLC39A12_ENST00000377374.4_Silent_p.L148L|SLC39A12_ENST00000539911.1_Silent_p.L14L|SLC39A12_ENST00000377369.2_Silent_p.L148L			Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	148					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						ACACAGCCTACTGAGCCTCAG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	86	85			NA	NA	10		NA											NA				18250690		2203	4300	6503	SO:0001819	synonymous_variant				CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482	221074	221074		Solute carriers	20860	protein-coding gene	gene with protein product		608734	solute carrier family 39 (metal ion transporter), member 12		NA	12659941	Standard	NM_152725	NM_152725	NA	Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377371.3:c.442C>T	10.37:g.18250690C>T		NA	B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	37																																																																																				SLC39A12-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000047060.1		+	ENST00000377371.3	Silent	SNP	10 : 18250690 - 18250690 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	375	66
LRP5	4041	broad.mit.edu	37	11	68181324	68181324	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68181324G>A	ENST00000294304.7	+	12	2777	c.2671G>A	c.(2671-2673)Gac>Aac	p.D891N		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	891	Beta-propeller 3.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTTCGTGATGGACATCCTGGT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	75	79			NA	NA	11		NA											NA				68181324		2200	4294	6494	SO:0001583	missense			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337	4041	4041		Low density lipoprotein receptors	6697	protein-coding gene	gene with protein product		603506	osteoporosis pseudoglioma syndrome, exudative vitreoretinopathy 1	LRP7, OPPG, EVR1	NA	9714764, 10049586	Standard	NM_002335	XM_005273994	NA	Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.2671G>A	11.37:g.68181324G>A	ENSP00000294304:p.Asp891Asn	NA	Q96TD6|Q9UP66	37	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	G	35	5.593856	0.96602	.	.	ENSG00000162337	ENST00000294304	D	0.91351	-2.83	5.02	5.02	0.67125	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.50627	U	0.000115	D	0.96510	0.8861	M	0.92367	3.3	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.78314	0.991;0.991	D	0.97234	0.9886	10	0.72032	D	0.01	.	18.5313	0.90993	0.0:0.0:1.0:0.0	.	891;891	Q9UES7;O75197	.;LRP5_HUMAN	N	891	ENSP00000294304:D891N	ENSP00000294304:D891N	D	+	1	0	LRP5	67937900	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.394000	0.97261	2.601000	0.87937	0.561000	0.74099	GAC	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395088.1		+	ENST00000294304.7	Missense_Mutation	SNP	11 : 68181324 - 68181324 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	299	55
PPARD	5467	broad.mit.edu	37	6	35393666	35393666	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35393666G>A	ENST00000311565.4	+	9	1485	c.1136G>A	c.(1135-1137)cGt>cAt	p.R379H	PPARD_ENST00000540939.1_Missense_Mutation_p.R276H|PPARD_ENST00000418635.2_Missense_Mutation_p.R281H|PPARD_ENST00000360694.3_Missense_Mutation_p.R379H|PPARD_ENST00000448077.2_Missense_Mutation_p.R340H	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	379	Ligand-binding.				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.R379H(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	ACCATCCTGCGTGCCCTCGAA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											112	98	103			NA	NA	6		NA											NA				35393666		2203	4300	6503	SO:0001583	missense			L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033	5467	5467		Nuclear hormone receptors	9235	protein-coding gene	gene with protein product		600409	peroxisome proliferative activated receptor, delta		NA	1333051	Standard	NM_006238	NM_177435	NA	Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.1136G>A	6.37:g.35393666G>A	ENSP00000310928:p.Arg379His	NA	A8K6J6|B6ZGS1|Q5D1P0|Q7Z5K0|Q9BUD4	37	CCDS4803.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.922548	0.33908	.	.	ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000418635;ENST00000311565;ENST00000540939	D;D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13;-4.13	5.05	2.1	0.27182	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.453737	0.25708	N	0.028835	T	0.81997	0.4941	N	0.04335	-0.225	0.38358	D	0.944533	D;P;P	0.53151	0.958;0.882;0.95	P;B;B	0.44359	0.447;0.443;0.443	T	0.80141	-0.1506	10	0.17832	T	0.49	.	8.4014	0.32588	0.349:0.0:0.651:0.0	.	281;340;379	E9PE18;B7Z3W1;Q03181	.;.;PPARD_HUMAN	H	340;379;281;379;276	ENSP00000414372:R340H;ENSP00000353916:R379H;ENSP00000413314:R281H;ENSP00000310928:R379H;ENSP00000443759:R276H	ENSP00000310928:R379H	R	+	2	0	PPARD	35501644	0.997000	0.39634	0.995000	0.50966	0.982000	0.71751	1.886000	0.39688	0.434000	0.26340	0.561000	0.74099	CGT	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040288.1		+	ENST00000311565.4	Missense_Mutation	SNP	6 : 35393666 - 35393666 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	350	73
NPIPB15	440348	broad.mit.edu	37	16	74425384	74425384	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:74425384G>A	ENST00000429990.1	+	7	834	c.738G>A	c.(736-738)caG>caA	p.Q246Q						nuclear pore complex interacting protein family, member B15	NA											NA						TGGGCCGCCAGCCACCTCCTC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	45	45			NA	NA	16		NA											NA				74425384		1962	4151	6113	SO:0001819	synonymous_variant			BC160029		16q22.3	2013-06-11	2013-06-11	2013-06-11	ENSG00000196436	ENSG00000196436	440348	440348			34409	protein-coding gene	gene with protein product			nuclear pore complex interacting protein-like 2	NPIPL2	NA		Standard	NM_001018059	XM_005256273	NA	Approved	LOC440348	uc010vmt.1	A6NHN6	OTTHUMG00000156916	ENST00000429990.1:c.738G>A	16.37:g.74425384G>A		NA		37																																																																																				NPIPB15-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000346597.2		+	ENST00000429990.1	Silent	SNP	16 : 74425384 - 74425384 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	793	114
DDX60	55601	broad.mit.edu	37	4	169229212	169229212	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169229212C>T	ENST00000393743.3	-	4	500	c.209G>A	c.(208-210)cGc>cAc	p.R70H		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	70							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CACAAGATAGCGTTCAACCAG	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	108	106			NA	NA	4		NA											NA				169229212		2203	4300	6503	SO:0001583	missense			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628	55601	55601			25942	protein-coding gene	gene with protein product		613974			NA	12477932	Standard	NM_017631	NM_017631	NA	Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.209G>A	4.37:g.169229212C>T	ENSP00000377344:p.Arg70His	NA	Q6PK35|Q9NVE3	37	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	C	3.993	-0.004024	0.07773	.	.	ENSG00000137628	ENST00000393743;ENST00000514995	T	0.20881	2.04	4.87	2.11	0.27256	.	0.916407	0.09361	N	0.812697	T	0.18593	0.0446	L	0.59436	1.845	0.09310	N	1	B	0.25521	0.128	B	0.17098	0.017	T	0.30621	-0.9972	10	0.41790	T	0.15	.	3.359	0.07179	0.1398:0.5734:0.1355:0.1513	.	70	Q8IY21	DDX60_HUMAN	H	70	ENSP00000377344:R70H	ENSP00000377344:R70H	R	-	2	0	DDX60	169465787	0.000000	0.05858	0.003000	0.11579	0.047000	0.14425	-0.569000	0.05902	0.314000	0.23086	0.557000	0.71058	CGC	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364622.1		-	ENST00000393743.3	Missense_Mutation	SNP	4 : 169229212 - 169229212 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	481	86
GRIA4	2893	broad.mit.edu	37	11	105797622	105797622	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:105797622C>A	ENST00000530497.1	+	12	2003	c.2003C>A	c.(2002-2004)gCc>gAc	p.A668D	GRIA4_ENST00000525187.1_Missense_Mutation_p.A668D|GRIA4_ENST00000282499.5_Missense_Mutation_p.A668D|GRIA4_ENST00000393127.2_Missense_Mutation_p.A668D			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	668					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ACAGAAATTGCCTATGGAACA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	71	72			NA	NA	11		NA											NA				105797622		2202	4298	6500	SO:0001583	missense			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578	NA	2893		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4574	protein-coding gene	gene with protein product		138246	glutamate receptor, ionotrophic, AMPA 4	GLUR4	NA		Standard		NM_001077244	NA	Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.2003C>A	11.37:g.105797622C>A	ENSP00000435775:p.Ala668Asp	NA		37	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	C	32	5.178614	0.94846	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.67	5.67	0.87782	Ionotropic glutamate receptor (2);	0.072305	0.64402	D	0.000020	T	0.51415	0.1673	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	0.974;1.0	P;D	0.75484	0.824;0.986	T	0.49826	-0.8898	10	0.59425	D	0.04	.	20.1421	0.98061	0.0:1.0:0.0:0.0	.	668;668	P48058;G3V164	GRIA4_HUMAN;.	D	668	ENSP00000282499:A668D;ENSP00000376835:A668D;ENSP00000435775:A668D;ENSP00000432180:A668D	ENSP00000282499:A668D	A	+	2	0	GRIA4	105302832	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.836000	0.97738	0.655000	0.94253	GCC	GRIA4-005	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388593.1		+	ENST00000530497.1	Missense_Mutation	SNP	11 : 105797622 - 105797622 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	312	27
C16orf70	80262	broad.mit.edu	37	16	67154021	67154021	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67154021C>T	ENST00000219139.3	+	2	259	c.71C>T	c.(70-72)cCt>cTt	p.P24L	C16orf70_ENST00000569600.1_Missense_Mutation_p.P24L|C16orf70_ENST00000569683.1_3'UTR	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	24										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		TCAGGAATGCCTCTGGCTCAG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	128	132			NA	NA	16		NA											NA				67154021		2200	4300	6500	SO:0001583	missense			AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149	80262	80262			29564	protein-coding gene	gene with protein product			chromosome 16 open reading frame 6	C16orf6, LIN10	NA	12477932	Standard	NM_025187	NM_025187	NA	Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.71C>T	16.37:g.67154021C>T	ENSP00000219139:p.Pro24Leu	NA	Q9HA86	37	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162170	0.57368	.	.	ENSG00000125149	ENST00000219139	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.69415	0.3108	M	0.81497	2.545	0.80722	D	1	P;B	0.46220	0.874;0.339	B;B	0.43508	0.422;0.306	T	0.73678	-0.3907	9	0.54805	T	0.06	-23.057	17.8263	0.88666	0.0:1.0:0.0:0.0	.	2;24	Q9BSU1-2;Q9BSU1	.;CP070_HUMAN	L	24	.	ENSP00000219139:P24L	P	+	2	0	C16orf70	65711522	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.971000	0.76105	2.805000	0.96524	0.655000	0.94253	CCT	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268829.2		+	ENST00000219139.3	Missense_Mutation	SNP	16 : 67154021 - 67154021 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	544	84
SLC7A7	9056	broad.mit.edu	37	14	23282281	23282281	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23282281C>T	ENST00000397532.3	-	2	852	c.327G>A	c.(325-327)gaG>gaA	p.E109E	SLC7A7_ENST00000397529.2_Silent_p.E109E|SLC7A7_ENST00000397528.4_Silent_p.E109E|SLC7A7_ENST00000554517.1_Intron|SLC7A7_ENST00000285850.7_Silent_p.E109E|SLC7A7_ENST00000555702.1_Silent_p.E109E			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	109					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		CTCCAAAGGCCTCCAGGATAT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	126	126			NA	NA	14		NA											NA				23282281		2203	4300	6503	SO:0001819	synonymous_variant			AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465	9056	9056		Solute carriers	11065	protein-coding gene	gene with protein product		603593		LPI	NA	9829974	Standard		NM_001126106	NA	Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.327G>A	14.37:g.23282281C>T		NA	B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	37	CCDS9574.1																																																																																			SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071636.3		-	ENST00000397532.3	Silent	SNP	14 : 23282281 - 23282281 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	784	143
FAM181B	220382	broad.mit.edu	37	11	82444633	82444633	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82444633C>T	ENST00000329203.3	-	1	273	c.139G>A	c.(139-141)Gcg>Acg	p.A47T		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	47										large_intestine(1)|lung(2)|prostate(1)	4						AGCGCACCCGCCGGAGCCCCG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	15	14			NA	NA	11		NA											NA				82444633		2178	4270	6448	SO:0001583	missense			AK095054, BC039262	CCDS31648.1	11q14.1	2011-11-30			ENSG00000182103	ENSG00000182103	220382	220382			28512	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_175885	NM_175885	NA	Approved	LOC220382, MGC33846	uc001ozp.3	A6NEQ2	OTTHUMG00000166869	ENST00000329203.3:c.139G>A	11.37:g.82444633C>T	ENSP00000365295:p.Ala47Thr	NA	B2RWP1	37	CCDS31648.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803751	0.50315	.	.	ENSG00000182103	ENST00000329203	T	0.32272	1.46	3.51	3.51	0.40186	.	0.860133	0.09314	U	0.819132	T	0.24005	0.0581	N	0.22421	0.69	0.28960	N	0.889904	P	0.42518	0.782	B	0.40256	0.324	T	0.07597	-1.0764	9	.	.	.	.	13.3973	0.60861	0.0:1.0:0.0:0.0	.	47	A6NEQ2	F181B_HUMAN	T	47	ENSP00000365295:A47T	.	A	-	1	0	FAM181B	82122281	0.876000	0.30132	0.984000	0.44739	0.022000	0.10575	1.156000	0.31712	1.800000	0.52685	0.455000	0.32223	GCG	FAM181B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391626.1		-	ENST00000329203.3	Missense_Mutation	SNP	11 : 82444633 - 82444633 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	125	26
SCFD1	23256	broad.mit.edu	37	14	31119778	31119778	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31119778A>G	ENST00000458591.2	+	9	904	c.677A>G	c.(676-678)gAc>gGc	p.D226G	SCFD1_ENST00000421551.3_Missense_Mutation_p.D167G|SCFD1_ENST00000396629.2_Missense_Mutation_p.D134G|SCFD1_ENST00000541123.1_Missense_Mutation_p.D41G|SCFD1_ENST00000544052.2_Missense_Mutation_p.D159G	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	226					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CAGAAACTAGACAAGAAACTT	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	50	49			NA	NA	14		NA											NA				31119778		2203	4292	6495	SO:0001583	missense			AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108	23256	23256			20726	protein-coding gene	gene with protein product			chromosome 14 open reading frame 163	C14orf163	NA		Standard	NM_182835	NM_016106	NA	Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.677A>G	14.37:g.31119778A>G	ENSP00000390783:p.Asp226Gly	NA	A8K2Z5|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	37	CCDS9639.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.383097	0.82792	.	.	ENSG00000092108	ENST00000458591;ENST00000544052;ENST00000421551;ENST00000541123;ENST00000553693;ENST00000396629;ENST00000469043	T;T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.88621	0.6486	M	0.82193	2.58	0.80722	D	1	P;D;D;D	0.89917	0.888;1.0;1.0;1.0	P;D;D;D	0.80764	0.83;0.989;0.994;0.989	D	0.90252	0.4294	10	0.87932	D	0	-12.2595	15.1704	0.72869	1.0:0.0:0.0:0.0	.	167;159;134;226	B7Z738;B7Z4U7;B7Z594;Q8WVM8	.;.;.;SCFD1_HUMAN	G	226;159;167;41;67;134;81	ENSP00000390783:D226G;ENSP00000443010:D159G;ENSP00000388078:D167G;ENSP00000443537:D41G;ENSP00000452308:D67G;ENSP00000379870:D134G;ENSP00000452448:D81G	ENSP00000309417:D234G	D	+	2	0	SCFD1	30189529	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	8.600000	0.90860	2.180000	0.69256	0.533000	0.62120	GAC	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276612.3		+	ENST00000458591.2	Missense_Mutation	SNP	14 : 31119778 - 31119778 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	225	38
REEP1	65055	broad.mit.edu	37	2	86459903	86459903	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86459903C>A	ENST00000165698.5	-	6	583	c.440G>T	c.(439-441)aGa>aTa	p.R147I	REEP1_ENST00000538924.1_Missense_Mutation_p.R154I|REEP1_ENST00000535845.1_Missense_Mutation_p.R120I|REEP1_ENST00000473407.1_5'UTR|REEP1_ENST00000540790.1_Missense_Mutation_p.R126I|REEP1_ENST00000541910.1_Missense_Mutation_p.D69Y	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	147					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						GCTCCGCAGTCTCTCCGATAA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	36	38			NA	NA	2		NA											NA				86459903		2203	4300	6503	SO:0001583	missense			AK023172	CCDS1989.1, CCDS54372.1, CCDS54373.1, CCDS54374.1	2p11.2	2014-09-17	2006-02-07	2006-02-07	ENSG00000068615	ENSG00000068615	65055	65055		Receptor accessory proteins	25786	protein-coding gene	gene with protein product	receptor expression enhancing protein 1	609139	chromosome 2 open reading frame 23	C2orf23	NA	16271481, 15550249	Standard	NM_022912	NM_022912	NA	Approved	FLJ13110, SPG31	uc002srh.4	Q9H902	OTTHUMG00000130205	ENST00000165698.5:c.440G>T	2.37:g.86459903C>A	ENSP00000165698:p.Arg147Ile	NA	D6W5M2|Q53TI0	37	CCDS1989.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.765722|4.765722	0.90020|0.90020	.|.	.|.	ENSG00000068615|ENSG00000068615	ENST00000541910;ENST00000437769|ENST00000165698;ENST00000538924;ENST00000535845;ENST00000540790;ENST00000453231;ENST00000428491	D;D|D;D;D;D;D;D	0.93604|0.88664	-3.25;-3.22|-2.39;-2.41;-1.56;-1.56;-2.38;-1.67	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.045059	.|0.85682	.|D	.|0.000000	D|D	0.91895|0.91895	0.7434|0.7434	M|M	0.61703|0.61703	1.905|1.905	0.54753|0.54753	D|D	0.999988|0.999988	D|P;D;P	0.61080|0.52996	0.989|0.928;0.957;0.928	P|P;P;P	0.55667|0.56960	0.781|0.65;0.81;0.753	D|D	0.89980|0.89980	0.4100|0.4100	9|10	0.87932|0.32370	D|T	0|0.25	.|.	17.0395|17.0395	0.86484|0.86484	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	69|120;126;147	B7Z4D7|B7Z5R9;F5H7Z9;Q9H902	.|.;.;REEP1_HUMAN	Y|I	69|147;154;120;126;154;120	ENSP00000442681:D69Y;ENSP00000401140:D69Y|ENSP00000165698:R147I;ENSP00000438346:R154I;ENSP00000437567:R120I;ENSP00000443831:R126I;ENSP00000392197:R154I;ENSP00000400607:R120I	ENSP00000401140:D69Y|ENSP00000165698:R147I	D|R	-|-	1|2	0|0	REEP1|REEP1	86313414|86313414	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	3.875000|3.875000	0.56108|0.56108	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	GAC|AGA	REEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252523.2		-	ENST00000165698.5	Missense_Mutation	SNP	2 : 86459903 - 86459903 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	244	65
RPAP1	26015	broad.mit.edu	37	15	41814074	41814074	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41814074G>A	ENST00000561603.1	-	21	3014	c.2900C>T	c.(2899-2901)gCg>gTg	p.A967V	RPAP1_ENST00000304330.4_Missense_Mutation_p.A967V			Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	967	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity	p.A967V(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TGGCTGCAGCGCTGCCTGCAG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	NS(1)											32	31	31			NA	NA	15		NA											NA				41814074		2203	4300	6503	SO:0001583	missense			BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932	26015	26015			24567	protein-coding gene	gene with protein product		611475			NA	10718198	Standard	NM_015540	XM_005254297	NA	Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000561603.1:c.2900C>T	15.37:g.41814074G>A	ENSP00000456207:p.Ala967Val	NA	Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	37		.	.	.	.	.	.	.	.	.	.	G	10.37	1.331785	0.24167	.	.	ENSG00000103932	ENST00000304330	T	0.74632	-0.86	4.88	-0.796	0.10912	.	1.434620	0.04140	N	0.319392	T	0.56529	0.1991	N	0.14661	0.345	0.09310	N	1	B	0.19817	0.039	B	0.15870	0.014	T	0.42582	-0.9443	10	0.36615	T	0.2	-15.5212	6.4346	0.21817	0.5094:0.1402:0.3504:0.0	.	967	Q9BWH6	RPAP1_HUMAN	V	967	ENSP00000306123:A967V	ENSP00000306123:A967V	A	-	2	0	RPAP1	39601366	0.354000	0.24912	0.000000	0.03702	0.002000	0.02628	2.133000	0.42093	-0.015000	0.14150	-0.259000	0.10710	GCG	RPAP1-004	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000420208.1		-	ENST00000561603.1	Missense_Mutation	SNP	15 : 41814074 - 41814074 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	209	51
CRYZL1	9946	broad.mit.edu	37	21	34997011	34997011	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34997011G>A	ENST00000445393.1	-	3	177	c.122C>T	c.(121-123)gCt>gTt	p.A41V	CRYZL1_ENST00000381554.3_Missense_Mutation_p.A41V|CRYZL1_ENST00000381540.3_Missense_Mutation_p.A41V|CRYZL1_ENST00000290244.5_Missense_Mutation_p.A41V|CRYZL1_ENST00000413017.2_Missense_Mutation_p.A41V|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000361534.2_Missense_Mutation_p.A65V			O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	41					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						CTGGCTCAGAGCACAAGCTTT	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	102	102			NA	NA	21		NA											NA				34997011		2202	4300	6502	SO:0001583	missense			AF029689	CCDS13633.2	21q22.1	2008-07-31			ENSG00000205758	ENSG00000205758	9946	9946			2420	protein-coding gene	gene with protein product	quinone reductase-like 1	603920			NA	10191096	Standard	NM_145858	NM_145858	NA	Approved	QOH-1, 4P11	uc021wio.1	O95825	OTTHUMG00000065954	ENST00000445393.1:c.122C>T	21.37:g.34997011G>A	ENSP00000399730:p.Ala41Val	NA	B2RDX1|Q96DY0|Q9NVY7	37		.	.	.	.	.	.	.	.	.	.	G	20.4	3.982314	0.74474	.	.	ENSG00000205758	ENST00000381554;ENST00000290244;ENST00000381540;ENST00000445393;ENST00000361534;ENST00000452332;ENST00000431177;ENST00000413017	T;T;T;T;T;T;T	0.50548	3.45;0.74;3.45;0.74;3.45;3.45;3.45	5.05	5.05	0.67936	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.176366	0.48286	D	0.000196	T	0.72153	0.3425	M	0.90082	3.085	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.66084	0.941;0.941;0.941	T	0.78478	-0.2188	10	0.72032	D	0.01	-21.5229	14.2943	0.66302	0.0:0.0:1.0:0.0	.	41;41;65	O95825;A6NND8;A6NHJ8	QORL1_HUMAN;.;.	V	41;41;41;41;65;41;41;41	ENSP00000370966:A41V;ENSP00000290244:A41V;ENSP00000370951:A41V;ENSP00000399730:A41V;ENSP00000355075:A65V;ENSP00000405510:A41V;ENSP00000389209:A41V	ENSP00000290244:A41V	A	-	2	0	CRYZL1	33918881	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	3.861000	0.56002	2.503000	0.84419	0.591000	0.81541	GCT	CRYZL1-024	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000337118.1		-	ENST00000445393.1	Missense_Mutation	SNP	21 : 34997011 - 34997011 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	284	56
HNRNPH1	3187	broad.mit.edu	37	5	179044072	179044072	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179044072C>T	ENST00000356731.5	-	9	2632	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	HNRNPH1_ENST00000393432.4_Missense_Mutation_p.G366E|HNRNPH1_ENST00000511300.2_Missense_Mutation_p.G96E|HNRNPH1_ENST00000510411.1_Missense_Mutation_p.G366E|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.G366E|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.G366E			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	366	2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						ACCGCTTGCTCCTGCTGTAGA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	95	96			NA	NA	5		NA											NA				179044072		2203	4300	6503	SO:0001583	missense			BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045	3187	3187		RNA binding motif (RRM) containing	5041	protein-coding gene	gene with protein product		601035		HNRPH1	NA	7499401	Standard	NM_005520	NM_005520	NA	Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.1097G>A	5.37:g.179044072C>T	ENSP00000349168:p.Gly366Glu	NA	B3KW86|D3DWQ2|Q6IBM4	37	CCDS4446.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	13.85|13.85	2.359804|2.359804	0.41801|0.41801	.|.	.|.	ENSG00000169045|ENSG00000169045	ENST00000521173|ENST00000393432;ENST00000442819;ENST00000356731;ENST00000329433;ENST00000510411;ENST00000511300;ENST00000519033	.|T;T;T;T;T;T;T	.|0.25414	.|2.86;2.86;2.86;2.82;1.8;1.8;1.8	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.17619|0.17619	0.0423|0.0423	N|N	0.19112|0.19112	0.55|0.55	0.58432|0.58432	D|D	0.99999|0.99999	.|B;B	.|0.24675	.|0.091;0.109	.|B;B	.|0.29077	.|0.073;0.098	T|T	0.10291|0.10291	-1.0636|-1.0636	5|10	.|0.24483	.|T	.|0.36	-8.856|-8.856	11.3327|11.3327	0.49485|0.49485	0.14:0.7246:0.1354:0.0|0.14:0.7246:0.1354:0.0	.|.	.|366;366	.|E9PCY7;P31943	.|.;HNRH1_HUMAN	K|E	241|366;366;366;366;366;96;122	.|ENSP00000377082:G366E;ENSP00000397797:G366E;ENSP00000349168:G366E;ENSP00000327539:G366E;ENSP00000426275:G366E;ENSP00000444220:G96E;ENSP00000429481:G122E	.|ENSP00000327539:G366E	E|G	-|-	1|2	0|0	HNRNPH1|HNRNPH1	178976678|178976678	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.930000|3.930000	0.56522|0.56522	2.734000|2.734000	0.93682|0.93682	0.650000|0.650000	0.86243|0.86243	GAG|GGA	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253497.3		-	ENST00000356731.5	Missense_Mutation	SNP	5 : 179044072 - 179044072 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	531	152
MAPKBP1	23005	broad.mit.edu	37	15	42107871	42107871	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42107871A>G	ENST00000457542.2	+	12	1653	c.1367A>G	c.(1366-1368)gAc>gGc	p.D456G	MAPKBP1_ENST00000260357.7_Missense_Mutation_p.D295G|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.D456G|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.D462G|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.D339G	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	462										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GCCCTGCTGGACACAGAGCTG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	51	55			NA	NA	15		NA											NA				42107871		2203	4300	6503	SO:0001583	missense			AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802	23005	23005		WD repeat domain containing	29536	protein-coding gene	gene with protein product			mitogen activated protein kinase binding protein 1		NA	9628581, 10471813	Standard	NM_014994	NM_014994	NA	Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000457542.2:c.1367A>G	15.37:g.42107871A>G	ENSP00000397570:p.Asp456Gly	NA	A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	37	CCDS32201.1	.	.	.	.	.	.	.	.	.	.	a	19.42	3.824024	0.71143	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.48522	0.81;0.94;1.09;0.87;1.03	5.67	5.67	0.87782	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.56232	0.1971	N	0.24115	0.695	0.80722	D	1	D;D;B;B	0.89917	1.0;1.0;0.007;0.005	D;D;B;B	0.91635	0.998;0.999;0.008;0.008	T	0.59878	-0.7371	10	0.54805	T	0.06	-23.4698	15.9544	0.79871	1.0:0.0:0.0:0.0	.	295;456;462;456	F8WC21;O60336-2;O60336;O60336-6	.;.;MABP1_HUMAN;.	G	456;339;295;462;456	ENSP00000397570:D456G;ENSP00000221214:D339G;ENSP00000260357:D295G;ENSP00000393099:D462G;ENSP00000426154:D456G	ENSP00000221214:D339G	D	+	2	0	MAPKBP1	39895163	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.238000	0.65366	2.176000	0.68965	0.374000	0.22700	GAC	MAPKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359744.1		+	ENST00000457542.2	Missense_Mutation	SNP	15 : 42107871 - 42107871 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	118	19
ZNF862	643641	broad.mit.edu	37	7	149559356	149559356	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149559356C>T	ENST00000223210.4	+	7	3352	c.3107C>T	c.(3106-3108)aCc>aTc	p.T1036I	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	1036					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						CCCATCTCCACCTCTTGCTGT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	56	53			NA	NA	7		NA											NA				149559356		2125	4231	6356	SO:0001583	missense			AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479	643641	643641		Zinc fingers, C2H2-type, -	34519	protein-coding gene	gene with protein product					NA		Standard	NM_001099220	NM_001099220	NA	Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.3107C>T	7.37:g.149559356C>T	ENSP00000223210:p.Thr1036Ile	NA	A0AUL8	37	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751826	0.49362	.	.	ENSG00000106479	ENST00000223210	T	0.24151	1.87	5.39	3.51	0.40186	HAT dimerisation (1);Ribonuclease H-like (1);	0.119463	0.37669	N	0.001994	T	0.42017	0.1184	M	0.70275	2.135	0.27088	N	0.962921	D	0.63046	0.992	P	0.60012	0.867	T	0.27331	-1.0077	10	0.56958	D	0.05	-24.2793	8.668	0.34132	0.1725:0.6614:0.1662:0.0	.	1036	O60290	ZN862_HUMAN	I	1036	ENSP00000223210:T1036I	ENSP00000223210:T1036I	T	+	2	0	ZNF862	149190289	0.982000	0.34865	0.996000	0.52242	0.954000	0.61252	2.076000	0.41548	0.597000	0.29811	0.655000	0.94253	ACC	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350165.1		+	ENST00000223210.4	Missense_Mutation	SNP	7 : 149559356 - 149559356 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	174	33
DNM2	1785	broad.mit.edu	37	19	10940946	10940946	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10940946G>A	ENST00000359692.6	+	19	2573	c.2423G>A	c.(2422-2424)cGg>cAg	p.R808Q	DNM2_ENST00000355667.6_Missense_Mutation_p.R812Q|DNM2_ENST00000314646.5_Missense_Mutation_p.R812Q|DNM2_ENST00000585892.1_Missense_Mutation_p.R812Q|DNM2_ENST00000408974.4_Missense_Mutation_p.R808Q|DNM2_ENST00000389253.4_Missense_Mutation_p.R812Q	NM_004945.3	NP_004936.2	P50570	DYN2_HUMAN	dynamin 2	812	Pro-rich.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			ATCCCATCCCGGCCTGGACCC	0.697		NA	F, N, Splice, Mis, O		ETP ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		19	19p13.2	1785	dynamin 2		L	0													69	72	71			NA	NA	19		NA											NA				10940946		2203	4300	6503	SO:0001583	missense				CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17					1785	1785		Pleckstrin homology (PH) domain containing	2974	protein-coding gene	gene with protein product	dynamin II, cytoskeletal protein	602378			NA	7590285, 9143510	Standard	NM_004945	NM_001190716	NA	Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000359692.6:c.2423G>A	19.37:g.10940946G>A	ENSP00000352721:p.Arg808Gln	NA	Q5I0Y0|Q7Z5S3|Q9UPH4	37	CCDS32907.1	.	.	.	.	.	.	.	.	.	.	g	20.5	4.008865	0.75046	.	.	ENSG00000079805	ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	T;T;T	0.61040	0.14;0.14;0.14	5.12	5.12	0.69794	.	0.068830	0.64402	D	0.000020	T	0.76183	0.3952	M	0.75615	2.305	0.47994	D	0.99956	D;P;D;D;D;D;D	0.76494	0.998;0.864;0.995;0.994;0.999;0.998;0.994	D;B;P;P;D;D;P	0.77557	0.99;0.114;0.647;0.885;0.975;0.945;0.885	T	0.79067	-0.1955	10	0.66056	D	0.02	-16.2448	17.3501	0.87321	0.0:0.0:1.0:0.0	.	406;812;541;808;808;812;812	Q8N1K8;F5H4R9;B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;.;.;DYN2_HUMAN;.	Q	808;808;812;812;812	ENSP00000386192:R808Q;ENSP00000373905:R812Q;ENSP00000313164:R812Q	ENSP00000313164:R812Q	R	+	2	0	DNM2	10801946	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	8.584000	0.90798	2.403000	0.81681	0.550000	0.68814	CGG	DNM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452591.1		+	ENST00000359692.6	Missense_Mutation	SNP	19 : 10940946 - 10940946 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1278	239
PPP1R13L	10848	broad.mit.edu	37	19	45885941	45885941	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45885941G>A	ENST00000418234.2	-	12	2370	c.2292C>T	c.(2290-2292)taC>taT	p.Y764Y	PPP1R13L_ENST00000360957.5_Silent_p.Y764Y	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	764	SH3.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CCCAGAGAGCGTACACTGCCC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(61;1447 1663 31419 50578)							NA				0													62	51	55			NA	NA	19		NA											NA				45885941		2203	4300	6503	SO:0001819	synonymous_variant			AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881	10848	10848		Ankyrin repeat domain containing	18838	protein-coding gene	gene with protein product		607463	protein phosphatase 1, regulatory (inhibitor) subunit 13 like		NA	10336463	Standard	NM_006663	NM_006663	NA	Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.2292C>T	19.37:g.45885941G>A		NA	Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	37	CCDS33050.1																																																																																			PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457586.1		-	ENST00000418234.2	Silent	SNP	19 : 45885941 - 45885941 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	341	68
UGT1A1	54658	broad.mit.edu	37	2	234526745	234526745	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234526745G>A	ENST00000373450.4	+	1	455	c.392G>A	c.(391-393)cGa>cAa	p.R131Q		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	NA					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.R131Q(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TTTAATGACCGAAAATTAGTA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	skin(1)						G	GLN/ARG	0,4406		0,0,2203	122	131	128		392	-7.9	0	2		128	1,8599	1.2+/-3.3	0,1,4299	no	missense	UGT1A8	NM_019076.4	43	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		131/531	234526745	1,13005	2203	4300	6503	SO:0001583	missense			M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	54658	54658	2.4.1.17	UDP glucuronosyltransferases	12530	other	complex locus constituent		191740	UDP glycosyltransferase 1 family, polypeptide A1	UGT1, GNT1	NA	9295054, 9535849	Standard		NM_000463	NA	Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.392G>A	2.37:g.234526745G>A	ENSP00000362549:p.Arg131Gln	NA		37	CCDS33402.1	.	.	.	.	.	.	.	.	.	.	G	1.545	-0.540686	0.04053	0.0	1.16E-4	ENSG00000242366	ENST00000373450	T	0.59906	0.23	3.96	-7.92	0.01160	.	.	.	.	.	T	0.28333	0.0700	N	0.11756	0.17	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.11036	-1.0604	9	0.28530	T	0.3	.	3.6313	0.08133	0.2058:0.2713:0.3809:0.142	.	131;131	Q5DSZ6;Q9HAW9	.;UD18_HUMAN	Q	131	ENSP00000362549:R131Q	ENSP00000362549:R131Q	R	+	2	0	UGT1A8	234191484	0.000000	0.05858	0.000000	0.03702	0.146000	0.21551	-0.510000	0.06328	-2.963000	0.00289	-1.358000	0.01219	CGA	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130994.1		+	ENST00000373450.4	Missense_Mutation	SNP	2 : 234526745 - 234526745 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1054	74
ZNF665	79788	broad.mit.edu	37	19	53678811	53678811	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53678811A>G	ENST00000396424.3	-	3	118	c.29T>C	c.(28-30)tTc>tCc	p.F10S	ZNF665_ENST00000600412.1_Intron	NM_024733.3	NP_079009.3	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CACATCCTTGAATGTCAACTG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	113	113			NA	NA	19		NA											NA				53678811		2203	4300	6503	SO:0001583	missense				CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497	79788	79788		Zinc fingers, C2H2-type, -	25885	protein-coding gene	gene with protein product					NA		Standard	NM_024733	NM_024733	NA	Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000396424.3:c.29T>C	19.37:g.53678811A>G	ENSP00000379702:p.Phe10Ser	NA	A8K5T8	37	CCDS46169.1	.	.	.	.	.	.	.	.	.	.	A	11.00	1.508950	0.27036	.	.	ENSG00000197497	ENST00000396424	T	0.08984	3.03	2.67	2.67	0.31697	.	.	.	.	.	T	0.07773	0.0195	.	.	.	0.09310	N	1	P	0.45827	0.867	B	0.39027	0.288	T	0.24977	-1.0145	8	0.72032	D	0.01	.	8.8024	0.34916	1.0:0.0:0.0:0.0	.	10	Q9H7R5-2	.	S	10	ENSP00000379702:F10S	ENSP00000379702:F10S	F	-	2	0	ZNF665	58370623	0.961000	0.32948	0.081000	0.20488	0.394000	0.30568	3.356000	0.52269	1.214000	0.43395	0.533000	0.62120	TTC	ZNF665-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464180.1		-	ENST00000396424.3	Missense_Mutation	SNP	19 : 53678811 - 53678811 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	692	69
SIAE	54414	broad.mit.edu	37	11	124509617	124509617	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124509617C>T	ENST00000263593.3	-	8	1285	c.1113G>A	c.(1111-1113)tcG>tcA	p.S371S	SIAE_ENST00000545756.1_Silent_p.S336S			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	371						extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		TGCCAAAAGGCGAGTCTCTAT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													173	144	154			NA	NA	11		NA											NA				124509617		2201	4299	6500	SO:0001819	synonymous_variant			AF300796	CCDS8449.1, CCDS55795.1	11q24	2005-12-15	2005-12-15	2005-12-15		ENSG00000110013	54414	54414			18187	protein-coding gene	gene with protein product	sialic acid-specific acetylesterase II	610079	Ysg2 homolog (mouse)	YSG2	NA	10464298	Standard	NM_170601	NM_001199922	NA	Approved	CSE-C, MGC87009, LSE	uc001qan.3	Q9HAT2		ENST00000263593.3:c.1113G>A	11.37:g.124509617C>T		NA	B3KPB0|Q8IUT9|Q9HAU7|Q9NT71	37	CCDS8449.1																																																																																			SIAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387070.1		-	ENST00000263593.3	Silent	SNP	11 : 124509617 - 124509617 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	525	129
FBN2	2201	broad.mit.edu	37	5	127680140	127680140	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127680140C>T	ENST00000508053.1	-	31	4254	c.3280G>A	c.(3280-3282)Gga>Aga	p.G1094R	FBN2_ENST00000508989.1_Missense_Mutation_p.G1061R|FBN2_ENST00000262464.4_Missense_Mutation_p.G1094R			P35556	FBN2_HUMAN	fibrillin 2	1094	EGF-like 15; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTGAAGCTTCCGATTGTATTT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	132	134			NA	NA	5		NA											NA				127680140		2203	4300	6503	SO:0001583	missense			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829	2201	2201			3604	protein-coding gene	gene with protein product	fibrillin 5	612570	congenital contractural arachnodactyly	CCA	NA	1852206, 8120105	Standard	NM_001999	NM_001999	NA	Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3280G>A	5.37:g.127680140C>T	ENSP00000424571:p.Gly1094Arg	NA	B4DU01|Q59ES6	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895790	0.52121	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.99557	-6.16;-6.16;-6.16	4.54	3.68	0.42216	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000008	D	0.99704	0.9887	H	0.98178	4.165	0.80722	D	1	D;D	0.61697	0.968;0.99	P;P	0.58820	0.846;0.821	D	0.97397	0.9993	10	0.87932	D	0	.	13.6728	0.62436	0.0:0.924:0.0:0.076	.	1061;1094	D6RJI3;P35556	.;FBN2_HUMAN	R	1094;1094;1061	ENSP00000262464:G1094R;ENSP00000424571:G1094R;ENSP00000425596:G1061R	ENSP00000262464:G1094R	G	-	1	0	FBN2	127708039	1.000000	0.71417	0.942000	0.38095	0.007000	0.05969	7.607000	0.82883	1.520000	0.48965	-0.266000	0.10368	GGA	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000371618.2		-	ENST00000508053.1	Missense_Mutation	SNP	5 : 127680140 - 127680140 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	709	118
STOX2	56977	broad.mit.edu	37	4	184931489	184931489	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184931489C>T	ENST00000308497.4	+	3	2933	c.1498C>T	c.(1498-1500)Cct>Tct	p.P500S	STOX2_ENST00000438269.1_Missense_Mutation_p.P500S	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	500					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CTCCAAAGGCCCTCTGGGTGC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	43	41			NA	NA	4		NA											NA				184931489		1922	4150	6072	SO:0001583	missense			AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320	56977	56977			25450	protein-coding gene	gene with protein product					NA		Standard	NM_020225	XM_005263142	NA	Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.1498C>T	4.37:g.184931489C>T	ENSP00000311257:p.Pro500Ser	NA	A6H8U4|Q9NPS8	37	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893427	0.72639	.	.	ENSG00000173320	ENST00000308497;ENST00000438269	T;T	0.80738	-0.41;-1.41	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.83571	0.5283	N	0.20986	0.625	0.80722	D	1	P;D	0.89917	0.518;1.0	B;D	0.80764	0.225;0.994	T	0.80398	-0.1399	10	0.27082	T	0.32	-18.7983	19.9142	0.97043	0.0:1.0:0.0:0.0	.	500;500	Q9P2F5-2;Q9P2F5	.;STOX2_HUMAN	S	500	ENSP00000311257:P500S;ENSP00000390127:P500S	ENSP00000311257:P500S	P	+	1	0	STOX2	185168483	0.998000	0.40836	0.998000	0.56505	0.997000	0.91878	3.519000	0.53458	2.941000	0.99782	0.655000	0.94253	CCT	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361433.3		+	ENST00000308497.4	Missense_Mutation	SNP	4 : 184931489 - 184931489 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	57	6
KCNT1	57582	broad.mit.edu	37	9	138669337	138669337	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138669337G>A	ENST00000371757.2	+	21	2570	c.2503G>A	c.(2503-2505)Gtg>Atg	p.V835M	KCNT1_ENST00000491806.2_Missense_Mutation_p.V802M|KCNT1_ENST00000298480.5_Missense_Mutation_p.V835M|KCNT1_ENST00000263604.3_Missense_Mutation_p.V816M|KCNT1_ENST00000490355.2_Missense_Mutation_p.V814M|KCNT1_ENST00000488444.2_Missense_Mutation_p.V816M|KCNT1_ENST00000486577.2_Missense_Mutation_p.V794M|KCNT1_ENST00000487664.1_Missense_Mutation_p.V790M	NM_020822.2	NP_065873.2	B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	835						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GAACCCCATCGTGCTGCTGCT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	52	55			NA	NA	9		NA											NA				138669337		2203	4300	6503	SO:0001583	missense			AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147	57582	57582		Potassium channels, Voltage-gated ion channels / Potassium channels, calcium-activated	18865	protein-coding gene	gene with protein product		608167			NA	10718198, 16382103	Standard	NM_020822	NM_020822	NA	Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000371757.2:c.2503G>A	9.37:g.138669337G>A	ENSP00000360822:p.Val835Met	NA		37	CCDS35175.2	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886606	0.51908	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	4.37	4.37	0.52481	.	0.000000	0.64402	U	0.000001	T	0.82116	0.4967	M	0.84326	2.69	0.58432	D	0.999992	D;D;D;P	0.58268	0.97;0.97;0.982;0.881	B;B;P;B	0.45794	0.298;0.393;0.493;0.221	D	0.86747	0.1958	10	0.72032	D	0.01	-15.4357	16.9291	0.86184	0.0:0.0:1.0:0.0	.	802;835;790;816	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	M	790;835;835;794;802;816;814;816	ENSP00000417851:V790M;ENSP00000298480:V835M;ENSP00000360822:V835M;ENSP00000263604:V816M	ENSP00000263604:V816M	V	+	1	0	KCNT1	137809158	1.000000	0.71417	0.998000	0.56505	0.706000	0.40770	9.639000	0.98448	1.971000	0.57363	0.555000	0.69702	GTG	KCNT1-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055021.2		+	ENST00000371757.2	Missense_Mutation	SNP	9 : 138669337 - 138669337 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	274	48
DNAJB1	3337	broad.mit.edu	37	19	14626848	14626848	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14626848C>A	ENST00000254322.2	-	3	997	c.927G>T	c.(925-927)gaG>gaT	p.E309D	DNAJB1_ENST00000396969.4_Missense_Mutation_p.E209D	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	309					chaperone cofactor-dependent protein refolding|response to unfolded protein	cytoplasm|nucleolus	heat shock protein binding|unfolded protein binding			NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		CCCCACGTTTCTCGGGTGTTT	0.507		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	19		NA											NA				14626848		2203	4300	6503	SO:0001583	missense			D49547	CCDS12312.1, CCDS74295.1	19p13.12	2014-08-12			ENSG00000132002	ENSG00000132002	3337	3337		Heat shock proteins / DNAJ (HSP40)	5270	protein-coding gene	gene with protein product	radial spoke 16 homolog B (Chlamydomonas)	604572		HSPF1	NA	8975727, 8250930	Standard	NM_006145	XM_006722733	NA	Approved	Hsp40, Sis1, RSPH16B	uc002myz.1	P25685	OTTHUMG00000183289	ENST00000254322.2:c.927G>T	19.37:g.14626848C>A	ENSP00000254322:p.Glu309Asp	NA		37	CCDS12312.1	.	.	.	.	.	.	.	.	.	.	c	11.05	1.523743	0.27299	.	.	ENSG00000132002	ENST00000254322;ENST00000396969	T;T	0.42131	0.98;0.98	4.84	2.64	0.31445	Chaperone DnaJ, C-terminal (1);HSP40/DnaJ peptide-binding (1);	0.304487	0.35067	N	0.003465	T	0.21267	0.0512	N	0.12611	0.24	0.38586	D	0.950306	B	0.02656	0.0	B	0.01281	0.0	T	0.07271	-1.0781	10	0.20046	T	0.44	.	8.377	0.32449	0.1664:0.5109:0.3227:0.0	.	309	P25685	DNJB1_HUMAN	D	309;209	ENSP00000254322:E309D;ENSP00000444212:E209D	ENSP00000254322:E309D	E	-	3	2	DNAJB1	14487848	0.842000	0.29525	0.974000	0.42286	0.969000	0.65631	-0.088000	0.11198	0.441000	0.26529	0.313000	0.20887	GAG	DNAJB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465987.1		-	ENST00000254322.2	Missense_Mutation	SNP	19 : 14626848 - 14626848 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	447	98
SCAP	22937	broad.mit.edu	37	3	47460857	47460857	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47460857G>A	ENST00000265565.5	-	13	2313	c.1901C>T	c.(1900-1902)cCg>cTg	p.P634L	SCAP_ENST00000441517.2_Missense_Mutation_p.P379L|SCAP_ENST00000545718.1_Missense_Mutation_p.P242L	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	634					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GAAGAGCGTCGGCCAGTGGCG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(149;978 1908 29304 37806 46700)							NA				0													57	55	55			NA	NA	3		NA											NA				47460857		2203	4300	6503	SO:0001583	missense			BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650	22937	22937		WD repeat domain containing	30634	protein-coding gene	gene with protein product	SREBP cleavage activating protein	601510			NA	8898195, 8724849, 10570913	Standard	NM_012235	XM_005264967	NA	Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.1901C>T	3.37:g.47460857G>A	ENSP00000265565:p.Pro634Leu	NA	Q8N2E0|Q8WUA1	37	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	G	33	5.284507	0.95517	.	.	ENSG00000114650	ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718	D;D;T	0.84800	-1.9;-1.86;0.25	4.48	4.48	0.54585	.	0.057304	0.64402	D	0.000001	D	0.91372	0.7278	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.973	D	0.92528	0.6031	10	0.87932	D	0	-23.6223	16.9316	0.86191	0.0:0.0:1.0:0.0	.	379;634	F8W921;Q12770	.;SCAP_HUMAN	L	261;634;379;242	ENSP00000265565:P634L;ENSP00000416847:P379L;ENSP00000438956:P242L	ENSP00000265565:P634L	P	-	2	0	SCAP	47435861	1.000000	0.71417	0.934000	0.37439	0.986000	0.74619	9.336000	0.96533	2.316000	0.78162	0.462000	0.41574	CCG	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000246872.2		-	ENST00000265565.5	Missense_Mutation	SNP	3 : 47460857 - 47460857 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	370	15
ZDBF2	57683	broad.mit.edu	37	2	207172773	207172773	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207172773G>A	ENST00000374423.3	+	5	3907	c.3521G>A	c.(3520-3522)cGa>cAa	p.R1174Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1174							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATAGTCAATCGACCTCAAATA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	101	102			NA	NA	2		NA											NA				207172773		1888	4106	5994	SO:0001583	missense			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186	57683	57683		Zinc fingers, DBF-type	29313	protein-coding gene	gene with protein product					NA	10997877	Standard	NM_020923	XM_005246711	NA	Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.3521G>A	2.37:g.207172773G>A	ENSP00000363545:p.Arg1174Gln	NA	Q6ZNP7|Q6ZSN8	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	5.395	0.258166	0.10239	.	.	ENSG00000204186	ENST00000374423	T	0.42513	0.97	4.1	0.625	0.17665	.	.	.	.	.	T	0.13628	0.0330	N	0.02247	-0.625	0.09310	N	1	B	0.18461	0.028	B	0.08055	0.003	T	0.28299	-1.0048	9	0.11794	T	0.64	.	3.4928	0.07644	0.4411:0.3476:0.2114:0.0	.	1174	Q9HCK1	ZDBF2_HUMAN	Q	1174	ENSP00000363545:R1174Q	ENSP00000363545:R1174Q	R	+	2	0	ZDBF2	206881018	0.102000	0.21896	0.081000	0.20488	0.046000	0.14306	0.242000	0.18087	0.089000	0.17243	0.650000	0.86243	CGA	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336458.1		+	ENST00000374423.3	Missense_Mutation	SNP	2 : 207172773 - 207172773 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	436	74
GAPVD1	26130	broad.mit.edu	37	9	128099772	128099772	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128099772C>T	ENST00000470056.1	+	15	2939	c.2779C>T	c.(2779-2781)Cga>Tga	p.R927*	GAPVD1_ENST00000394105.2_Nonsense_Mutation_p.R954*|GAPVD1_ENST00000394104.2_Nonsense_Mutation_p.R927*|GAPVD1_ENST00000394083.2_Nonsense_Mutation_p.R906*|GAPVD1_ENST00000495955.1_Nonsense_Mutation_p.R927*|GAPVD1_ENST00000312123.9_Nonsense_Mutation_p.R906*|GAPVD1_ENST00000297933.6_Nonsense_Mutation_p.R927*|GAPVD1_ENST00000265956.4_Nonsense_Mutation_p.R901*			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	927					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AAATGAAGAGCGAGAACTCCC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	71	72			NA	NA	9		NA											NA				128099772		2203	4300	6503	SO:0001587	stop_gained				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219	26130	26130			23375	protein-coding gene	gene with protein product		611714			NA		Standard		XM_005251901	NA	Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000470056.1:c.2779C>T	9.37:g.128099772C>T	ENSP00000419767:p.Arg927*	NA	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	9.005336|9.005336	0.99033|0.99033	.|.	.|.	ENSG00000165219|ENSG00000165219	ENST00000436712|ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123	.|.	.|.	.|.	5.8|5.8	3.8|3.8	0.43715|0.43715	.|.	.|0.100698	.|0.64402	.|D	.|0.000003	T|.	0.35740|.	0.0942|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37934|.	-0.9684|.	3|.	.|0.06891	.|T	.|0.86	.|.	11.9073|11.9073	0.52719|0.52719	0.5343:0.4657:0.0:0.0|0.5343:0.4657:0.0:0.0	.|.	.|.	.|.	.|.	V|X	763|927;954;927;901;906;927;927;927;906	.|.	.|ENSP00000265956:R901X	A|R	+|+	2|1	0|2	GAPVD1|GAPVD1	127139593|127139593	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.917000|0.917000	0.54804|0.54804	1.862000|1.862000	0.39448|0.39448	1.450000|1.450000	0.47717|0.47717	0.655000|0.655000	0.94253|0.94253	GCG|CGA	GAPVD1-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000054071.4		+	ENST00000470056.1	Nonsense_Mutation	SNP	9 : 128099772 - 128099772 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	357	56
CENPJ	55835	broad.mit.edu	37	13	25463468	25463468	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25463468T>A	ENST00000381884.4	-	11	3472	c.3287A>T	c.(3286-3288)tAt>tTt	p.Y1096F	CENPJ_ENST00000545981.1_Intron	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1096					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CATTGGAAGATAATTTTTCTT	0.274		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	106	101			NA	NA	13		NA											NA				25463468		2202	4296	6498	SO:0001583	missense			AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849	55835	55835			17272	protein-coding gene	gene with protein product	centrosomal P4.1-associated protein	609279	microcephaly, primary autosomal recessive 6	MCPH6	NA	11003675, 22699936	Standard	NM_018451	NM_018451	NA	Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.3287A>T	13.37:g.25463468T>A	ENSP00000371308:p.Tyr1096Phe	NA	Q2KHM6|Q5T6R5|Q96KS5|Q9C067	37	CCDS9310.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.995|8.995	0.978707|0.978707	0.18812|0.18812	.|.	.|.	ENSG00000151849|ENSG00000151849	ENST00000418179|ENST00000381884;ENST00000445729	.|T	.|0.34275	.|1.37	4.82|4.82	1.03|1.03	0.20045|0.20045	.|.	.|0.589219	.|0.16585	.|N	.|0.208016	T|T	0.25901|0.25901	0.0631|0.0631	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	0.999998|0.999998	.|B;B	.|0.31931	.|0.302;0.347	.|B;B	.|0.32864	.|0.154;0.047	T|T	0.20974|0.20974	-1.0259|-1.0259	5|10	.|0.10111	.|T	.|0.7	.|.	3.9018|3.9018	0.09164|0.09164	0.0:0.1924:0.1845:0.623|0.0:0.1924:0.1845:0.623	.|.	.|177;1096	.|Q5T6R6;Q9HC77	.|.;CENPJ_HUMAN	F|F	177|1096	.|ENSP00000371308:Y1096F	.|ENSP00000371308:Y1096F	L|Y	-|-	3|2	2|0	CENPJ|CENPJ	24361468|24361468	0.359000|0.359000	0.24955|0.24955	0.082000|0.082000	0.20525|0.20525	0.293000|0.293000	0.27360|0.27360	0.300000|0.300000	0.19156|0.19156	0.097000|0.097000	0.17492|0.17492	0.450000|0.450000	0.29827|0.29827	TTA|TAT	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044209.1		-	ENST00000381884.4	Missense_Mutation	SNP	13 : 25463468 - 25463468 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	639	98
EFCAB5	374786	broad.mit.edu	37	17	28386688	28386688	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28386688G>T	ENST00000394835.3	+	14	2898	c.2706G>T	c.(2704-2706)aaG>aaT	p.K902N	EFCAB5_ENST00000536908.2_Intron|AC104984.4_ENST00000583250.1_RNA|EFCAB5_ENST00000378738.3_Missense_Mutation_p.K902N|EFCAB5_ENST00000541045.1_Intron|EFCAB5_ENST00000320856.5_Intron|EFCAB5_ENST00000394832.2_Missense_Mutation_p.K902N	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	902	EF-hand.						calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACACATACAAGGAGGGAATGG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	64	64			NA	NA	17		NA											NA				28386688		1838	4092	5930	SO:0001583	missense			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927	374786	374786		EF-hand domain containing	24801	protein-coding gene	gene with protein product					NA		Standard	NM_198529	NM_198529	NA	Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.2706G>T	17.37:g.28386688G>T	ENSP00000378312:p.Lys902Asn	NA	B2RPN0|Q0VD68|Q6ZRM6|Q8NDG9	37	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	G	17.58	3.424923	0.62733	.	.	ENSG00000176927	ENST00000394835;ENST00000394832;ENST00000378738	T;T;T	0.21031	2.03;2.03;2.03	5.35	3.33	0.38152	EF-hand-like domain (1);	.	.	.	.	T	0.43567	0.1253	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.41752	-0.9491	9	0.87932	D	0	-17.5267	10.4304	0.44405	0.1645:0.0:0.8355:0.0	.	902;902	B5MEA3;A4FU69	.;EFCB5_HUMAN	N	902	ENSP00000378312:K902N;ENSP00000378309:K902N;ENSP00000368012:K902N	ENSP00000368012:K902N	K	+	3	2	EFCAB5	25410814	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	3.089000	0.50183	1.259000	0.44117	0.449000	0.29647	AAG	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256120.4		+	ENST00000394835.3	Missense_Mutation	SNP	17 : 28386688 - 28386688 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	55
MAP1B	4131	broad.mit.edu	37	5	71490172	71490172	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71490172G>A	ENST00000296755.7	+	5	1288	c.990G>A	c.(988-990)gaG>gaA	p.E330E		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	330						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAATTGCAGAGCTCGAGGAAG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(17;367 822 11631 31730 47712)							NA				0													61	56	58			NA	NA	5		NA											NA				71490172		2203	4300	6503	SO:0001819	synonymous_variant			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711	4131	4131			6836	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 102	157129			NA	1881920	Standard	NM_005909	NM_005909	NA	Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.990G>A	5.37:g.71490172G>A		NA	A2BDK5	37	CCDS4012.1																																																																																			MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000218561.6		+	ENST00000296755.7	Silent	SNP	5 : 71490172 - 71490172 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	71
IL17RA	23765	broad.mit.edu	37	22	17586821	17586821	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17586821T>C	ENST00000319363.6	+	11	1155	c.1022T>C	c.(1021-1023)gTc>gCc	p.V341A		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	341					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CTGCTCATCGTCTGCATGACC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	73	80			NA	NA	22		NA											NA				17586821		2203	4300	6503	SO:0001583	missense			U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663	23765	23765		Interleukins and interleukin receptors, CD molecules	5985	protein-coding gene	gene with protein product		605461	interleukin 17 receptor	IL17R	NA	9367539, 10591208	Standard	NM_014339	NM_014339	NA	Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.1022T>C	22.37:g.17586821T>C	ENSP00000320936:p.Val341Ala	NA	O43844|Q20WK1	37	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	T	12.04	1.818552	0.32145	.	.	ENSG00000177663	ENST00000319363	T	0.06528	3.29	5.21	5.21	0.72293	.	1.277380	0.05326	N	0.527439	T	0.11793	0.0287	M	0.64997	1.995	0.23978	N	0.996285	B	0.34015	0.435	B	0.30401	0.115	T	0.36311	-0.9753	10	0.59425	D	0.04	-5.4492	12.8275	0.57728	0.0:0.0:0.0:1.0	.	341	Q96F46	I17RA_HUMAN	A	341	ENSP00000320936:V341A	ENSP00000320936:V341A	V	+	2	0	IL17RA	15966821	0.986000	0.35501	0.842000	0.33263	0.137000	0.21094	3.177000	0.50871	1.971000	0.57363	0.459000	0.35465	GTC	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000315820.1		+	ENST00000319363.6	Missense_Mutation	SNP	22 : 17586821 - 17586821 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	218	25
MCM6	4175	broad.mit.edu	37	2	136610461	136610461	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136610461G>A	ENST00000264156.2	-	12	1711	c.1651C>T	c.(1651-1653)Cgc>Tgc	p.R551C	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	551	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)	TCTACTATGCGCCTGGCAATG	0.363		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													92	86	88			NA	NA	2		NA											NA				136610461		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.1651C>T	2.37:g.136610461G>A	ENSP00000264156:p.Arg551Cys	NA	B2R6H2|Q13504|Q99859	37	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650320	0.87958	.	.	ENSG00000076003	ENST00000264156	T	0.06768	3.26	5.77	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.29556	0.0737	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.05273	-1.0895	10	0.87932	D	0	-9.537	15.9876	0.80174	0.0:0.0:0.8642:0.1358	.	551	Q14566	MCM6_HUMAN	C	551	ENSP00000264156:R551C	ENSP00000264156:R551C	R	-	1	0	MCM6	136326931	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.573000	0.82421	1.405000	0.46838	0.557000	0.71058	CGC	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254658.1		-	ENST00000264156.2	Missense_Mutation	SNP	2 : 136610461 - 136610461 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	74
ELOVL3	83401	broad.mit.edu	37	10	103986348	103986348	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103986348T>C	ENST00000370005.3	+	1	264	c.43T>C	c.(43-45)Ttc>Ctc	p.F15L		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	15					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		AAATCAGCTGTTCCAGCCCTA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	98	105			NA	NA	10		NA											NA				103986348		2203	4300	6503	SO:0001583	missense			AF292387	CCDS7531.1	10q24	2011-05-25	2011-05-25		ENSG00000119915	ENSG00000119915	83401	83401			18047	protein-coding gene	gene with protein product		611815	elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3		NA		Standard	NM_152310	NM_152310	NA	Approved	CIG-30	uc001kut.3	Q9HB03	OTTHUMG00000018951	ENST00000370005.3:c.43T>C	10.37:g.103986348T>C	ENSP00000359022:p.Phe15Leu	NA	Q5VZL3|Q8N180	37	CCDS7531.1	.	.	.	.	.	.	.	.	.	.	T	5.667	0.307660	0.10733	.	.	ENSG00000119915	ENST00000370005	T	0.20881	2.04	4.62	-1.08	0.09936	.	4.602870	0.00397	N	0.000058	T	0.07638	0.0192	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21314	-1.0249	10	0.06891	T	0.86	.	2.6472	0.04987	0.4086:0.2442:0.0:0.3472	.	15	Q9HB03	ELOV3_HUMAN	L	15	ENSP00000359022:F15L	ENSP00000359022:F15L	F	+	1	0	ELOVL3	103976338	0.000000	0.05858	0.014000	0.15608	0.422000	0.31414	-0.262000	0.08682	-0.015000	0.14150	0.459000	0.35465	TTC	ELOVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050030.1		+	ENST00000370005.3	Missense_Mutation	SNP	10 : 103986348 - 103986348 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	563	90
ZNF626	199777	broad.mit.edu	37	19	20807526	20807526	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:20807526G>A	ENST00000601440.1	-	4	1303	c.1157C>T	c.(1156-1158)aCg>aTg	p.T386M	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TATCTTATGCGTAGTAAGGTC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/THR	1,4285		0,1,2142	60	63	62		1157	-1.5	0	19		62	4,8558		0,4,4277	no	missense	ZNF626	NM_001076675.2	81	0,5,6419	AA,AG,GG	NA	0.0467,0.0233,0.0389	possibly-damaging	386/529	20807526	5,12843	2143	4281	6424	SO:0001583	missense			BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171	199777	199777		Zinc fingers, C2H2-type, -	30461	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_145297	NM_145297	NA	Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1157C>T	19.37:g.20807526G>A	ENSP00000469958:p.Thr386Met	NA	Q8N8T4	37	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	8.123	0.781388	0.16120	2.33E-4	4.67E-4	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	-1.5	0.08691	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23727	0.0574	N	0.21240	0.645	0.09310	N	1	D	0.63880	0.993	P	0.52793	0.709	T	0.14924	-1.0455	8	0.52906	T	0.07	.	2.2019	0.03926	0.3045:0.3393:0.3562:0.0	.	386	Q68DY1	ZN626_HUMAN	M	386;310;386	.	ENSP00000445201:T386M	T	-	2	0	ZNF626	20599366	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-7.731000	0.00031	0.284000	0.22305	0.289000	0.19496	ACG	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447845.2		-	ENST00000601440.1	Missense_Mutation	SNP	19 : 20807526 - 20807526 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	445	77
ZDHHC1	29800	broad.mit.edu	37	16	67432784	67432784	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67432784T>C	ENST00000348579.2	-	6	935	c.594A>G	c.(592-594)acA>acG	p.T198T		NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	198						integral to membrane	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		CGAAGACATATGTGGCCACCA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	77	79			NA	NA	16		NA											NA				67432784		2198	4300	6498	SO:0001819	synonymous_variant			U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714	29800	29800		Zinc fingers, DHHC-type	17916	protein-coding gene	gene with protein product			chromosome 16 open reading frame 1	C16orf1	NA	10395086	Standard	NM_013304	NM_013304	NA	Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.594A>G	16.37:g.67432784T>C		NA	O15461	37	CCDS10836.1																																																																																			ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268845.1		-	ENST00000348579.2	Silent	SNP	16 : 67432784 - 67432784 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	125	14
DNAI2	64446	broad.mit.edu	37	17	72301399	72301399	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72301399C>A	ENST00000579490.1	+	8	1335	c.1200C>A	c.(1198-1200)atC>atA	p.I400I	DNAI2_ENST00000582036.1_Silent_p.I343I|DNAI2_ENST00000307504.5_Silent_p.I200I|DNAI2_ENST00000446837.2_Silent_p.I343I|DNAI2_ENST00000311014.6_Silent_p.I343I			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	343					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCATCGTCATCTCCTGCAACC	0.572		NA							Kartagener syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	77	84			NA	NA	17		NA											NA				72301399		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595	64446	64446		Axonemal dyneins, WD repeat domain containing	18744	protein-coding gene	gene with protein product	dynein intermediate chain 2	605483	dynein, axonemal, intermediate polypeptide 2		NA	11153919, 21953912	Standard	NM_023036	NM_023036	NA	Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000579490.1:c.1200C>A	17.37:g.72301399C>A		NA	C9J0S6|Q8IUW4|Q9H179|Q9NT53	37																																																																																				DNAI2-004	PUTATIVE	NMD_exception|basic	protein_coding	NA	protein_coding	OTTHUMT00000442538.1		+	ENST00000579490.1	Silent	SNP	17 : 72301399 - 72301399 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	448	89
ANKDD1A	348094	broad.mit.edu	37	15	65236895	65236895	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65236895G>T	ENST00000380230.3	+	12	1141	c.1112G>T	c.(1111-1113)aGc>aTc	p.S371I	ANKDD1A_ENST00000395723.1_Intron|ANKDD1A_ENST00000357698.3_Intron|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.S371I	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	371					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						AACCATGTCAGCCTGGTGGAC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	83	88			NA	NA	15		NA											NA				65236895		2202	4299	6501	SO:0001583	missense				CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839	348094	348094		Ankyrin repeat domain containing	28002	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_182703	NM_182703	NA	Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.1112G>T	15.37:g.65236895G>T	ENSP00000369579:p.Ser371Ile	NA	Q495B2|Q495B3|Q8N7A0|Q8NBS5	37	CCDS10197.2	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812775	0.32053	.	.	ENSG00000166839	ENST00000380230;ENST00000395720	T;T	0.64991	-0.13;-0.13	5.23	4.33	0.51752	Ankyrin repeat-containing domain (4);	0.364418	0.26244	N	0.025498	T	0.48892	0.1525	L	0.41236	1.265	0.80722	D	1	B	0.18741	0.03	B	0.20767	0.031	T	0.50276	-0.8847	10	0.56958	D	0.05	-23.632	4.8555	0.13557	0.1712:0.0:0.6581:0.1707	.	371	Q495B1	AKD1A_HUMAN	I	371	ENSP00000369579:S371I;ENSP00000379070:S371I	ENSP00000369579:S371I	S	+	2	0	ANKDD1A	63023948	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	1.578000	0.36525	1.456000	0.47831	0.591000	0.81541	AGC	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256705.2		+	ENST00000380230.3	Missense_Mutation	SNP	15 : 65236895 - 65236895 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	221	19
CYP8B1	1582	broad.mit.edu	37	3	42916392	42916392	+	Missense_Mutation	SNP	C	C	T	rs148690797		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42916392C>T	ENST00000437102.1	-	1	998	c.917G>A	c.(916-918)cGg>cAg	p.R306Q	RP11-141M3.5_ENST00000471537.1_RNA|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000316161.4_Missense_Mutation_p.R306Q			Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	306					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity	p.R306Q(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CCTCACAGCCCGAATAGCTTC	0.587		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)						C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	30	28	29		917	-10.3	0	3	dbSNP_134	29	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CYP8B1	NM_004391.2	43	0,2,6501	TT,TC,CC	NA	0.0116,0.0227,0.0154	benign	306/502	42916392	2,13004	2203	4300	6503	SO:0001583	missense			AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432	1582	1582		Cytochrome P450s	2653	protein-coding gene	gene with protein product		602172	cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1		NA	10051404	Standard	NM_004391	NM_004391	NA	Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000437102.1:c.917G>A	3.37:g.42916392C>T	ENSP00000404499:p.Arg306Gln	NA	B2RCY3|O75958|Q6NWT2|Q6NWT3	37		.	.	.	.	.	.	.	.	.	.	C	4.763	0.141844	0.09083	2.27E-4	1.16E-4	ENSG00000180432	ENST00000437102;ENST00000316161	T;T	0.01252	5.1;5.1	5.39	-10.3	0.00346	.	0.685302	0.12927	N	0.427656	T	0.00906	0.0030	L	0.29908	0.895	0.09310	N	1	B;B	0.22080	0.064;0.003	B;B	0.16289	0.015;0.009	T	0.43393	-0.9394	10	0.19590	T	0.45	-4.7685	9.862	0.41120	0.0:0.4397:0.0963:0.4639	.	306;306	C9JFR9;Q9UNU6	.;CP8B1_HUMAN	Q	306	ENSP00000404499:R306Q;ENSP00000318867:R306Q	ENSP00000318867:R306Q	R	-	2	0	CYP8B1	42891396	0.005000	0.15991	0.041000	0.18516	0.219000	0.24729	-0.442000	0.06871	-1.750000	0.01328	-1.069000	0.02264	CGG	CYP8B1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000344172.1		-	ENST00000437102.1	Missense_Mutation	SNP	3 : 42916392 - 42916392 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	180	40
MS4A2	2206	broad.mit.edu	37	11	59857209	59857209	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59857209C>T	ENST00000278888.3	+	2	203	c.101C>T	c.(100-102)tCt>tTt	p.S34F		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	34					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	CAGGAAGTATCTTCAGGCAGA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	PHE/SER	0,4402		0,0,2201	137	131	133		101	-0.3	0	11		133	3,8587	3.0+/-9.4	0,3,4292	yes	missense	MS4A2	NM_000139.4	155	0,3,6493	TT,TC,CC	NA	0.0349,0.0,0.0231	benign	34/245	59857209	3,12989	2201	4295	6496	SO:0001583	missense			M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534	2206	2206			7316	protein-coding gene	gene with protein product	Fc fragment of IgE, high affinity I, receptor for; beta polypeptide	147138	IgE responsiveness (atopic), membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)	FCER1B, IGER, APY	NA	1386024	Standard		NM_000139	NA	Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.101C>T	11.37:g.59857209C>T	ENSP00000278888:p.Ser34Phe	NA	Q54A81	37	CCDS7980.1	.	.	.	.	.	.	.	.	.	.	C	5.228	0.227511	0.09916	0.0	3.49E-4	ENSG00000149534	ENST00000524868;ENST00000278888	D;T	0.85484	-1.99;2.02	4.15	-0.262	0.12958	.	12.226100	0.00166	N	0.000004	T	0.71626	0.3362	N	0.14661	0.345	0.09310	N	1	B	0.30361	0.277	B	0.25884	0.064	T	0.61946	-0.6958	10	0.52906	T	0.07	3.7895	2.9406	0.05829	0.3662:0.402:0.0:0.2318	.	34	Q01362	FCERB_HUMAN	F	34	ENSP00000433311:S34F;ENSP00000278888:S34F	ENSP00000278888:S34F	S	+	2	0	MS4A2	59613785	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.753000	0.04792	-0.032000	0.13758	0.650000	0.86243	TCT	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393844.1		+	ENST00000278888.3	Missense_Mutation	SNP	11 : 59857209 - 59857209 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	492	100
OSGIN1	29948	broad.mit.edu	37	16	83992884	83992884	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:83992884C>A	ENST00000343939.2	+	4	719	c.336C>A	c.(334-336)atC>atA	p.I112I	OSGIN1_ENST00000393306.1_Silent_p.I29I|OSGIN1_ENST00000361711.3_Silent_p.I29I|OSGIN1_ENST00000565123.1_Silent_p.I29I			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	112					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						CCTCTGGTATCTGCCTGTCCT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	123	130			NA	NA	16		NA											NA				83992884		2200	4300	6500	SO:0001819	synonymous_variant			AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961	29948	29948			30093	protein-coding gene	gene with protein product	bone marrow stromal cell-derived growth inhibitor, pregnancy induced growth inhibitor	607975			NA	11459809, 14570898	Standard	NM_013370	NM_182981	NA	Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.336C>A	16.37:g.83992884C>A		NA	Q52M33|Q86UQ1|Q96S88|Q9BZ70	37																																																																																				OSGIN1-001	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000269081.1		+	ENST00000343939.2	Silent	SNP	16 : 83992884 - 83992884 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	530	18
LRBA	987	broad.mit.edu	37	4	151511917	151511917	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151511917G>A	ENST00000510413.1	-	39	6425	c.6141C>T	c.(6139-6141)ggC>ggT	p.G2047G	LRBA_ENST00000357115.3_Silent_p.G2058G|LRBA_ENST00000507224.1_Silent_p.G2047G|LRBA_ENST00000535741.1_Silent_p.G2047G	NM_001199282.2	NP_001186211.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2058						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TATCATCATCGCCTTCCAGGA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	108	113			NA	NA	4		NA											NA				151511917		2203	4300	6503	SO:0001819	synonymous_variant			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589	987	987		WD repeat domain containing	1742	protein-coding gene	gene with protein product		606453		CDC4L	NA	1505956, 11254716	Standard		NM_006726	NA	Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000510413.1:c.6141C>T	4.37:g.151511917G>A		NA	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	37	CCDS58928.1	.	.	.	.	.	.	.	.	.	.	G	9.981	1.228041	0.22542	.	.	ENSG00000198589	ENST00000509835	.	.	.	5.85	1.01	0.19927	.	.	.	.	.	T	0.42426	0.1202	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21793	-1.0235	4	.	.	.	.	1.6732	0.02816	0.243:0.103:0.4426:0.2113	.	.	.	.	V	700	.	.	A	-	2	0	LRBA	151731367	0.966000	0.33281	0.999000	0.59377	0.988000	0.76386	0.059000	0.14322	0.081000	0.16988	0.557000	0.71058	GCG	LRBA-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364938.1		-	ENST00000510413.1	Silent	SNP	4 : 151511917 - 151511917 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	376	73
DHCR7	1717	broad.mit.edu	37	11	71152458	71152458	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71152458G>A	ENST00000355527.3	-	6	717	c.441C>T	c.(439-441)ggC>ggT	p.G147G	DHCR7_ENST00000407721.2_Silent_p.G147G	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	147			G -> D (in SLOS).		cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	AGGCTTGCAGGCCATTGATCT	0.547		NA							Smith-Lemli-Opitz syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	106	117			NA	NA	11		NA											NA				71152458		2200	4294	6494	SO:0001819	synonymous_variant	Familial Cancer Database	SLOS type I & II	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1717	1717	1.3.1.21		2860	protein-coding gene	gene with protein product		602858	Smith-Lemli-Opitz syndrome	SLOS	NA	9465114, 9634533	Standard	NM_001360	NM_001360	NA	Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.441C>T	11.37:g.71152458G>A		NA	O60492|O60717	37	CCDS8200.1																																																																																			DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394243.1		-	ENST00000355527.3	Silent	SNP	11 : 71152458 - 71152458 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	167	24
MYH14	79784	broad.mit.edu	37	19	50792804	50792804	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50792804C>T	ENST00000601313.1	+	35	4894	c.4864C>T	c.(4864-4866)Cgt>Tgt	p.R1622C	MYH14_ENST00000596571.1_Missense_Mutation_p.R1581C|MYH14_ENST00000262269.8_Missense_Mutation_p.R1622C|MYH14_ENST00000440075.2_Missense_Mutation_p.R1622C|MYH14_ENST00000376970.2_Missense_Mutation_p.R1614C|MYH14_ENST00000425460.1_Missense_Mutation_p.R1589C|MYH14_ENST00000598205.1_Missense_Mutation_p.R1589C	NM_001145809.1	NP_001139281.1	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1581					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TGCCAAGCTGCGTCTGGAGGT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	55	52			NA	NA	19		NA											NA				50792804		2194	4292	6486	SO:0001583	missense			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357	79784	79784		Myosins / Myosin superfamily : Class II	23212	protein-coding gene	gene with protein product		608568	myosin, heavy polypeptide 14, myosin, heavy chain 14	DFNA4	NA	12909352, 15015131, 17940200	Standard	NM_024729	NM_024729	NA	Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000601313.1:c.4864C>T	19.37:g.50792804C>T	ENSP00000470298:p.Arg1622Cys	NA	B0I1S2|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	37	CCDS54295.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565019	0.86439	.	.	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	4.25	4.25	0.50352	Myosin tail (1);	.	.	.	.	D	0.92756	0.7697	M	0.87547	2.89	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.996	D	0.93907	0.7193	9	0.87932	D	0	.	14.5171	0.67826	0.0:1.0:0.0:0.0	.	1622;1581;1589	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	C	1622;1614;1589;1365;1622	ENSP00000406273:R1622C;ENSP00000366169:R1614C;ENSP00000407879:R1589C;ENSP00000262269:R1622C	ENSP00000262269:R1622C	R	+	1	0	MYH14	55484616	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.523000	0.60545	2.371000	0.80710	0.491000	0.48974	CGT	MYH14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464709.2		+	ENST00000601313.1	Missense_Mutation	SNP	19 : 50792804 - 50792804 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	124	18
MBD1	4152	broad.mit.edu	37	18	47806310	47806310	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47806310C>T	ENST00000591416.1	-	2	484	c.53G>A	c.(52-54)cGc>cAc	p.R18H	MBD1_ENST00000339998.6_Missense_Mutation_p.R18H|MBD1_ENST00000398495.2_Missense_Mutation_p.R18H|MBD1_ENST00000424334.2_Missense_Mutation_p.R44H|MBD1_ENST00000587605.1_Missense_Mutation_p.R18H|MBD1_ENST00000436910.1_Missense_Mutation_p.R18H|MBD1_ENST00000457839.2_Missense_Mutation_p.R18H|MBD1_ENST00000353909.3_Missense_Mutation_p.R18H|MBD1_ENST00000398493.1_Missense_Mutation_p.R18H|MBD1_ENST00000588937.1_Missense_Mutation_p.R18H|MBD1_ENST00000590208.1_Missense_Mutation_p.R18H|MBD1_ENST00000585672.1_Missense_Mutation_p.R18H|MBD1_ENST00000591535.1_Missense_Mutation_p.R18H|MBD1_ENST00000269468.5_Missense_Mutation_p.R18H|MBD1_ENST00000347968.3_Missense_Mutation_p.R18H|MBD1_ENST00000585595.1_Missense_Mutation_p.R18H|MBD1_ENST00000349085.2_Missense_Mutation_p.R18H|MBD1_ENST00000269471.5_Missense_Mutation_p.R18H|MBD1_ENST00000382948.5_Missense_Mutation_p.R18H|MBD1_ENST00000398488.1_Missense_Mutation_p.R18H			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	18	MBD.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						AAAGACTTCGCGGCGCTTCCA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	38	38			NA	NA	18		NA											NA				47806310		2203	4300	6503	SO:0001583	missense			Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644	4152	4152			6916	protein-coding gene	gene with protein product		156535			NA	9207790, 10441743	Standard	NM_015846	NM_015844	NA	Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.53G>A	18.37:g.47806310C>T	ENSP00000467017:p.Arg18His	NA	A4UTZ0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	37	CCDS11943.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422881	0.83559	.	.	ENSG00000141644	ENST00000382948;ENST00000353909;ENST00000349085;ENST00000269468;ENST00000347968;ENST00000436910;ENST00000269471;ENST00000424334;ENST00000339998;ENST00000398495;ENST00000457839;ENST00000398493;ENST00000398488	D;D;D;D;D;D;D;D;D;D;D;D;D	0.99369	-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78	4.35	4.35	0.52113	Methyl-CpG DNA binding (4);DNA-binding, integrase-type (1);	0.000000	0.48286	D	0.000200	D	0.99168	0.9712	M	0.65320	2	0.39293	D	0.964775	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.995;0.999;1.0;0.999;0.997;0.997;0.996;1.0;0.997;1.0	D	0.99880	1.1112	10	0.87932	D	0	-9.431	14.7516	0.69530	0.0:1.0:0.0:0.0	.	18;44;18;18;18;18;18;18;18;18;18	B4DUR3;B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-5;Q9UIS9-4;Q9UIS9;Q9UIS9-7;B4DXJ5	.;.;.;.;.;.;.;.;MBD1_HUMAN;.;.	H	18;18;18;18;18;18;18;44;18;18;18;18;18	ENSP00000372407:R18H;ENSP00000269469:R18H;ENSP00000342531:R18H;ENSP00000269468:R18H;ENSP00000285102:R18H;ENSP00000409561:R18H;ENSP00000269471:R18H;ENSP00000408846:R44H;ENSP00000339546:R18H;ENSP00000381508:R18H;ENSP00000405268:R18H;ENSP00000381506:R18H;ENSP00000381502:R18H	ENSP00000269468:R18H	R	-	2	0	MBD1	46060308	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	3.952000	0.56691	2.143000	0.66587	0.467000	0.42956	CGC	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255926.3		-	ENST00000591416.1	Missense_Mutation	SNP	18 : 47806310 - 47806310 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	316	48
CUL9	23113	broad.mit.edu	37	6	43182887	43182887	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43182887C>T	ENST00000372647.2	+	30	5749	c.5675C>T	c.(5674-5676)gCc>gTc	p.A1892V	CUL9_ENST00000252050.4_Missense_Mutation_p.A1920V|RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000354495.3_Missense_Mutation_p.A1810V			Q8IWT3	CUL9_HUMAN	cullin 9	1920					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGGGGTGTGGCCTGTACCAGT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	105	104			NA	NA	6		NA											NA				43182887		2203	4300	6503	SO:0001583	missense			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659	23113	23113			15982	protein-coding gene	gene with protein product	parkin-like cytoplasmic p53 binding protein, p53-associated parkin-like cytoplasmic protein	607489			NA	17332328, 10521492, 12526791	Standard	NM_015089	NM_015089	NA	Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000372647.2:c.5675C>T	6.37:g.43182887C>T	ENSP00000361730:p.Ala1892Val	NA	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	37		.	.	.	.	.	.	.	.	.	.	C	15.39	2.818911	0.50633	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.73152	-0.72;-0.72;-0.62	5.11	3.22	0.36961	Cullin protein, neddylation domain (1);	0.807022	0.11802	N	0.528084	T	0.44603	0.1301	L	0.43152	1.355	0.29803	N	0.832275	P;B;B	0.45827	0.867;0.09;0.079	B;B;B	0.39027	0.288;0.028;0.021	T	0.42932	-0.9422	10	0.72032	D	0.01	-8.4531	6.4064	0.21666	0.0:0.5913:0.304:0.1047	.	1810;1892;1920	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	V	1920;1810;1892	ENSP00000252050:A1920V;ENSP00000346490:A1810V;ENSP00000361730:A1892V	ENSP00000252050:A1920V	A	+	2	0	CUL9	43290865	0.910000	0.30920	0.999000	0.59377	0.733000	0.41908	0.174000	0.16743	2.377000	0.81083	0.655000	0.94253	GCC	CUL9-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000358329.1		+	ENST00000372647.2	Missense_Mutation	SNP	6 : 43182887 - 43182887 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	819	156
THAP9	79725	broad.mit.edu	37	4	83838940	83838940	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83838940C>A	ENST00000302236.5	+	5	1626	c.1575C>A	c.(1573-1575)aaC>aaA	p.N525K	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	525							DNA binding|metal ion binding	p.N525K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ATAGTAGGAACTGTTATGGAA	0.338		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)											106	111	109			NA	NA	4		NA											NA				83838940		2203	4300	6503	SO:0001583	missense			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152	79725	79725		THAP (C2CH-type zinc finger) domain containing	23192	protein-coding gene	gene with protein product		612537			NA	12575992	Standard	NM_024672	NM_024672	NA	Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.1575C>A	4.37:g.83838940C>A	ENSP00000305533:p.Asn525Lys	NA	Q59AC9	37	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	C	7.317	0.616179	0.14129	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.91011	-2.77	3.87	3.02	0.34903	.	0.362319	0.24052	N	0.041995	D	0.84964	0.5589	M	0.61703	1.905	0.80722	D	1	P	0.47409	0.895	B	0.37989	0.262	T	0.81258	-0.1014	10	0.12103	T	0.63	-25.1457	9.742	0.40424	0.0:0.9011:0.0:0.0989	.	525	Q9H5L6	THAP9_HUMAN	K	525	ENSP00000305533:N525K	ENSP00000305533:N525K	N	+	3	2	THAP9	84057964	0.717000	0.27966	0.926000	0.36857	0.021000	0.10359	0.538000	0.23160	1.214000	0.43395	-0.140000	0.14226	AAC	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252633.1		+	ENST00000302236.5	Missense_Mutation	SNP	4 : 83838940 - 83838940 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	673	114
SEMA4B	10509	broad.mit.edu	37	15	90771863	90771863	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90771863C>A	ENST00000411539.2	+	14	2762	c.2502C>A	c.(2500-2502)gaC>gaA	p.D834E	SEMA4B_ENST00000379122.3_Intron|SEMA4B_ENST00000332496.6_Missense_Mutation_p.D834E	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	NA								p.C821fs*>1(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			AGATCCGTGACTCTGTGGTGT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Deletion - Frameshift(1)	breast(1)											34	40	38			NA	NA	15		NA											NA				90771863		2152	4237	6389	SO:0001583	missense			AB051532	CCDS45347.1	15q25	2008-07-18					10509	10509		Semaphorins	10730	protein-coding gene	gene with protein product				SEMAC	NA	7748561	Standard	NM_198925	NM_020210	NA	Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.2502C>A	15.37:g.90771863C>A	ENSP00000394720:p.Asp834Glu	NA		37	CCDS45347.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.750998	0.69533	.	.	ENSG00000185033	ENST00000332496;ENST00000411539	T;T	0.31247	1.5;1.5	4.57	2.68	0.31781	.	0.165499	0.51477	D	0.000100	T	0.39358	0.1075	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.17653	-1.0362	10	0.87932	D	0	.	7.6908	0.28567	0.0:0.7393:0.0:0.2607	.	834;829	Q2NL81;Q9NPR2	.;SEM4B_HUMAN	E	834	ENSP00000332204:D834E;ENSP00000394720:D834E	ENSP00000332204:D834E	D	+	3	2	SEMA4B	88572867	1.000000	0.71417	0.997000	0.53966	0.810000	0.45777	2.720000	0.47252	0.651000	0.30788	0.561000	0.74099	GAC	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416810.1		+	ENST00000411539.2	Missense_Mutation	SNP	15 : 90771863 - 90771863 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	407	70
OR52B6	340980	broad.mit.edu	37	11	5602224	5602224	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5602224C>T	ENST00000345043.2	+	1	118	c.118C>T	c.(118-120)Ctg>Ttg	p.L40L	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCCCTGGGCTGGAGCAACT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	101	101			NA	NA	11		NA											NA				5602224		2155	4271	6426	SO:0001819	synonymous_variant			AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747	340980	340980		GPCR / Class A : Olfactory receptors	15211	protein-coding gene	gene with protein product					NA		Standard	NM_001005162	NM_001005162	NA	Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.118C>T	11.37:g.5602224C>T		NA	Q6IFI7	37	CCDS41611.1																																																																																			OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000143397.1		+	ENST00000345043.2	Silent	SNP	11 : 5602224 - 5602224 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	333	60
HTR3A	3359	broad.mit.edu	37	11	113860390	113860390	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113860390G>A	ENST00000504030.2	+	9	1787	c.1342G>A	c.(1342-1344)Gtg>Atg	p.V448M	HTR3A_ENST00000355556.2_Missense_Mutation_p.V486M|HTR3A_ENST00000506841.2_Missense_Mutation_p.V480M|HTR3A_ENST00000535865.1_Missense_Mutation_p.V192M|HTR3A_ENST00000375498.2_Missense_Mutation_p.V454M|HTR3A_ENST00000299961.5_Missense_Mutation_p.V433M			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	448	HA-stretch.				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CGTGGGCTCCGTGCTGGACAA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	73	76			NA	NA	11		NA											NA				113860390		2201	4296	6497	SO:0001583	missense			D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03				3359	3359		5-HT (serotonin) receptors, Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic	5297	protein-coding gene	gene with protein product		182139	5-hydroxytryptamine (serotonin) receptor 3A	HTR3	NA	8530095, 12867984	Standard	NM_000869	NM_000869	NA	Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.1342G>A	11.37:g.113860390G>A	ENSP00000424189:p.Val448Met	NA	O60854|Q99918|Q9BSZ9	37		.	.	.	.	.	.	.	.	.	.	G	20.9	4.063842	0.76187	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.47857	0.1468	M	0.64630	1.985	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.975;1.0	T	0.43245	-0.9403	10	0.87932	D	0	-26.7499	13.105	0.59241	0.073:0.0:0.927:0.0	.	433;486;454	B4DSY6;G5E986;Q7KZM7	.;.;.	M	448;486;454;480;192;433	ENSP00000424189:V448M;ENSP00000347754:V486M;ENSP00000364648:V454M;ENSP00000424776:V480M;ENSP00000437776:V192M;ENSP00000299961:V433M	ENSP00000299961:V433M	V	+	1	0	HTR3A	113365600	1.000000	0.71417	0.973000	0.42090	0.621000	0.37620	5.499000	0.66937	2.710000	0.92621	0.655000	0.94253	GTG	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000360822.2		+	ENST00000504030.2	Missense_Mutation	SNP	11 : 113860390 - 113860390 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	588	112
TTLL4	9654	broad.mit.edu	37	2	219602420	219602420	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219602420G>A	ENST00000392102.1	+	3	361	c.21G>A	c.(19-21)caG>caA	p.Q7Q	TTLL4_ENST00000457313.1_Intron|TTLL4_ENST00000442769.1_Silent_p.Q7Q|TTLL4_ENST00000258398.4_Silent_p.Q7Q	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	7					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CAGGAACACAGCACTATAGTA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(172;1818 2053 15407 20943 49753)							NA				0													56	55	55			NA	NA	2		NA											NA				219602420		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912	9654	9654		Tubulin tyrosine ligase-like family	28976	protein-coding gene	gene with protein product					NA	11054573	Standard	NM_014640	NM_014640	NA	Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.21G>A	2.37:g.219602420G>A		NA	A8K6V5|Q8WW29	37	CCDS2422.1																																																																																			TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256726.1		+	ENST00000392102.1	Silent	SNP	2 : 219602420 - 219602420 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	381	52
SPTLC1	10558	broad.mit.edu	37	9	94812267	94812267	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:94812267C>T	ENST00000262554.2	-	9	868	c.863G>A	c.(862-864)gGa>gAa	p.G288E		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	288						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TTCAGTGACTCCTCGGCCATG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	147	151			NA	NA	9		NA											NA				94812267		2203	4300	6503	SO:0001583	missense			Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	10558	10558	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	hereditary sensory neuropathy, type 1	HSN1	NA	9363775	Standard	NM_006415	NM_006415	NA	Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.863G>A	9.37:g.94812267C>T	ENSP00000262554:p.Gly288Glu	NA	A8K681|Q5VWB4	37	CCDS6692.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.811721	0.90707	.	.	ENSG00000090054	ENST00000262554	D	0.96427	-4.01	4.66	4.66	0.58398	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.056205	0.64402	D	0.000001	D	0.98927	0.9636	H	0.97940	4.11	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.85130	0.997;0.994	D	0.99425	1.0934	10	0.87932	D	0	-15.9455	17.7986	0.88579	0.0:1.0:0.0:0.0	.	288;288	Q6NUL7;O15269	.;SPTC1_HUMAN	E	288	ENSP00000262554:G288E	ENSP00000262554:G288E	G	-	2	0	SPTLC1	93852088	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.407000	0.80029	2.411000	0.81874	0.551000	0.68910	GGA	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055553.1		-	ENST00000262554.2	Missense_Mutation	SNP	9 : 94812267 - 94812267 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	663	123
DLGAP1	9229	broad.mit.edu	37	18	3581922	3581922	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3581922C>A	ENST00000315677.3	-	8	2511	c.1916G>T	c.(1915-1917)aGg>aTg	p.R639M	DLGAP1_ENST00000515196.2_Missense_Mutation_p.R639M|DLGAP1_ENST00000400147.2_Missense_Mutation_p.R337M|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R639M|DLGAP1_ENST00000581699.1_Missense_Mutation_p.R345M|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R639M|DLGAP1_ENST00000400155.1_Missense_Mutation_p.R345M|DLGAP1_ENST00000400149.3_Missense_Mutation_p.R329M|DLGAP1_ENST00000534970.1_Missense_Mutation_p.R323M|DLGAP1_ENST00000400150.3_Missense_Mutation_p.R355M|DLGAP1_ENST00000539435.1_Missense_Mutation_p.R347M|DLGAP1_ENST00000400145.2_Missense_Mutation_p.R337M	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	639					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GTCCTTCTTCCTGTCCTCCgt	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	113	120			NA	NA	18		NA											NA				3581922		2203	4300	6503	SO:0001583	missense			AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579	9229	9229			2905	protein-coding gene	gene with protein product		605445	discs, large (Drosophila) homolog-associated protein 1		NA	9024696, 9286858	Standard		NM_004746	NA	Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.1916G>T	18.37:g.3581922C>A	ENSP00000316377:p.Arg639Met	NA	B2RMU8|B7WPA1|O14489|P78335	37	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992460	0.35131	.	.	ENSG00000170579	ENST00000315677;ENST00000400147;ENST00000400150;ENST00000400149;ENST00000400155;ENST00000534970;ENST00000539435;ENST00000400145;ENST00000515196	T;T;T;T;T;T;T;T;T	0.12255	2.71;2.71;2.7;2.71;2.7;2.71;2.71;2.7;2.71	5.41	5.41	0.78517	.	0.275715	0.41712	D	0.000840	T	0.24005	0.0581	L	0.34521	1.04	0.41063	D	0.985393	P;P;P;P;P;P;P;P	0.49696	0.882;0.927;0.923;0.882;0.923;0.856;0.923;0.905	P;P;P;P;P;B;P;P	0.56343	0.477;0.579;0.722;0.477;0.796;0.346;0.796;0.693	T	0.00662	-1.1621	10	0.34782	T	0.22	-26.0939	19.2071	0.93736	0.0:1.0:0.0:0.0	.	639;323;335;345;347;337;639;337	B7Z9Y4;B7Z2H2;B7Z2J5;A8MWN8;B7Z2I2;O14490-3;O14490;O14490-2	.;.;.;.;.;.;DLGP1_HUMAN;.	M	639;337;355;329;345;323;347;337;639	ENSP00000316377:R639M;ENSP00000383011:R337M;ENSP00000383014:R355M;ENSP00000383013:R329M;ENSP00000383019:R345M;ENSP00000437817:R323M;ENSP00000446312:R347M;ENSP00000383010:R337M;ENSP00000445973:R639M	ENSP00000316377:R639M	R	-	2	0	DLGAP1	3571922	0.987000	0.35691	1.000000	0.80357	0.969000	0.65631	1.747000	0.38298	2.520000	0.84964	0.563000	0.77884	AGG	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254394.4		-	ENST00000315677.3	Missense_Mutation	SNP	18 : 3581922 - 3581922 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	622	122
CCDC151	115948	broad.mit.edu	37	19	11534691	11534691	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11534691C>T	ENST00000591179.1	-	6	895	c.791G>A	c.(790-792)cGc>cAc	p.R264H	CCDC151_ENST00000545100.1_Missense_Mutation_p.R270H|CCDC151_ENST00000356392.4_Missense_Mutation_p.R324H|CCDC151_ENST00000586836.1_Missense_Mutation_p.R133H			A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	324										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CAGGTGCTCGCGGTGGGTCTG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	114	110			NA	NA	19		NA											NA				11534691		2144	4253	6397	SO:0001583	missense				CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003	115948	115948			28303	protein-coding gene	gene with protein product		615956			NA	24067530	Standard	NM_145045	NM_145045	NA	Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000591179.1:c.791G>A	19.37:g.11534691C>T	ENSP00000466800:p.Arg264His	NA	Q96CG5	37		.	.	.	.	.	.	.	.	.	.	C	18.60	3.657951	0.67586	.	.	ENSG00000198003	ENST00000545100;ENST00000356392;ENST00000543934	D;D	0.83755	-1.76;-1.76	3.63	3.63	0.41609	.	0.605905	0.15707	N	0.248624	D	0.88548	0.6466	M	0.70595	2.14	0.36641	D	0.876856	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.65773	0.938;0.938;0.938	D	0.89946	0.4076	10	0.54805	T	0.06	-9.2471	10.9377	0.47255	0.0:1.0:0.0:0.0	.	324;324;304	B3KPH7;A5D8V7;B4DG09	.;CC151_HUMAN;.	H	270;324;303	ENSP00000442987:R270H;ENSP00000348757:R324H	ENSP00000348757:R324H	R	-	2	0	CCDC151	11395691	0.981000	0.34729	0.608000	0.28969	0.013000	0.08279	1.889000	0.39718	2.014000	0.59158	0.491000	0.48974	CGC	CCDC151-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000458803.1		-	ENST00000591179.1	Missense_Mutation	SNP	19 : 11534691 - 11534691 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1266	218
GTF2E1	2960	broad.mit.edu	37	3	120499984	120499984	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120499984G>T	ENST00000283875.5	+	5	1080	c.987G>T	c.(985-987)gaG>gaT	p.E329D		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	329					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		TCATTCACGAGAAAAAGACTT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	76	76			NA	NA	3		NA											NA				120499984		2203	4300	6503	SO:0001583	missense			S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767	2960	2960		General transcription factors	4650	protein-coding gene	gene with protein product		189962	general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)		NA	1454543, 8162052	Standard	NM_005513	NM_005513	NA	Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.987G>T	3.37:g.120499984G>T	ENSP00000283875:p.Glu329Asp	NA	Q16103	37	CCDS3002.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779073	0.70107	.	.	ENSG00000153767	ENST00000283875	T	0.55413	0.52	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.72598	0.3480	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74671	-0.3587	10	0.56958	D	0.05	0.0028	11.6981	0.51554	0.0797:0.0:0.9203:0.0	.	329	P29083	T2EA_HUMAN	D	329	ENSP00000283875:E329D	ENSP00000283875:E329D	E	+	3	2	GTF2E1	121982674	1.000000	0.71417	1.000000	0.80357	0.423000	0.31445	6.137000	0.71710	2.814000	0.96858	0.650000	0.86243	GAG	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356770.1		+	ENST00000283875.5	Missense_Mutation	SNP	3 : 120499984 - 120499984 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	322	56
LILRA2	11027	broad.mit.edu	37	19	55086372	55086372	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55086372C>A	ENST00000391737.1	+	3	529	c.491C>A	c.(490-492)tCc>tAc	p.S164Y	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.S176Y|LILRA2_ENST00000251376.3_Missense_Mutation_p.S176Y|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000251377.3_Missense_Mutation_p.S176Y					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	NA										breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CGTGGGTGGTCCTGGGCCATC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	153	157			NA	NA	19		NA											NA				55086372		2203	4300	6503	SO:0001583	missense			U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998	NA	11027		Leukocyte immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	6603	protein-coding gene	gene with protein product		604812			NA	9079806, 9548455	Standard		XM_005258452	NA	Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000391737.1:c.491C>A	19.37:g.55086372C>A	ENSP00000375617:p.Ser164Tyr	NA		37		.	.	.	.	.	.	.	.	.	.	C	0.478	-0.881285	0.02530	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.03386	3.95;3.95;3.95;3.95;3.95	2.4	-4.8	0.03190	Immunoglobulin-like fold (1);	2.625940	0.01171	N	0.006877	T	0.06645	0.0170	L	0.42581	1.335	0.09310	N	1	B;B;B;D	0.60575	0.015;0.136;0.247;0.988	B;B;B;P	0.56163	0.006;0.097;0.15;0.793	T	0.51725	-0.8669	10	0.02654	T	1	.	8.9482	0.35771	0.0:0.2403:0.0:0.7597	.	176;164;176;176	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	Y	176;176;176;176;164	ENSP00000388131:S176Y;ENSP00000251377:S176Y;ENSP00000375618:S176Y;ENSP00000251376:S176Y;ENSP00000375617:S164Y	ENSP00000251376:S176Y	S	+	2	0	LILRA2	59778184	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.287000	0.00526	-1.244000	0.02516	-0.358000	0.07595	TCC	LILRA2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000140814.1		+	ENST00000391737.1	Missense_Mutation	SNP	19 : 55086372 - 55086372 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	845	89
YTHDC1	91746	broad.mit.edu	37	4	69197819	69197819	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69197819A>G	ENST00000344157.4	-	7	1458		c.e7+1		YTHDC1_ENST00000579690.1_Splice_Site|YTHDC1_ENST00000355665.3_Splice_Site	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	NA										NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						TGATGCTAATACCTTCGCTTT	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	98	100			NA	NA	4		NA											NA				69197819		2203	4300	6503	SO:0001630	splice_region_variant			AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896	91746	91746			30626	protein-coding gene	gene with protein product					NA	12368078, 10564280	Standard	NM_133370	XM_005265706	NA	Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.1122+1T>C	4.37:g.69197819A>G		NA	Q4W5Q3|Q7Z622|Q8TF35	37	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	A	16.60	3.167816	0.57476	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3141	0.74059	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	YTHDC1	68880414	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.588000	0.74076	2.155000	0.67459	0.528000	0.53228	.	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251437.1	Intron	-	ENST00000344157.4	Splice_Site	SNP	4 : 69197819 - 69197819 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	258	51
PON2	5445	broad.mit.edu	37	7	95034793	95034793	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:95034793C>T	ENST00000222572.3	-	9	1160	c.914G>A	c.(913-915)cGc>cAc	p.R305H	PON2_ENST00000536183.1_Missense_Mutation_p.R326H|PON2_ENST00000483292.1_5'UTR|PON2_ENST00000433091.2_Missense_Mutation_p.R293H			Q15165	PON2_HUMAN	paraoxonase 2	305					aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			GTTCTGGATGCGGAGAACCTA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(42;803 823 13649 23368 31463)							NA				0													149	133	138			NA	NA	7		NA											NA				95034793		2203	4300	6503	SO:0001583	missense			M63012, AF001601	CCDS5640.1, CCDS47644.1	7q21.3	2014-03-14			ENSG00000105854	ENSG00000105854	5445	5445	3.1.1.2	Paraoxonases	9205	protein-coding gene	gene with protein product	paraoxonase nirs, arylesterase 2	602447			NA	8661009, 9714608	Standard	NM_000305	XM_005250453	NA	Approved		uc003unv.3	Q15165	OTTHUMG00000153948	ENST00000222572.3:c.914G>A	7.37:g.95034793C>T	ENSP00000222572:p.Arg305His	NA	B2RCP9|B4DJD5|O15114|O15115|O75856|Q5FBX7|Q86YL0	37	CCDS5640.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053052	0.75960	.	.	ENSG00000105854	ENST00000536183;ENST00000355659;ENST00000433091;ENST00000222572	T;T;T	0.44083	0.93;0.93;0.93	4.82	3.94	0.45596	Six-bladed beta-propeller, TolB-like (1);	0.056799	0.64402	D	0.000001	T	0.58764	0.2145	M	0.87456	2.885	0.54753	D	0.999984	D;D	0.71674	0.998;0.998	P;P	0.52267	0.694;0.694	T	0.68360	-0.5429	10	0.59425	D	0.04	-3.9691	13.2264	0.59916	0.0:0.9234:0.0:0.0766	.	305;305	A4D1H7;Q15165	.;PON2_HUMAN	H	326;303;293;305	ENSP00000440282:R326H;ENSP00000404622:R293H;ENSP00000222572:R305H	ENSP00000222572:R305H	R	-	2	0	PON2	94872729	1.000000	0.71417	0.997000	0.53966	0.895000	0.52256	5.482000	0.66833	1.395000	0.46643	0.655000	0.94253	CGC	PON2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333142.1		-	ENST00000222572.3	Missense_Mutation	SNP	7 : 95034793 - 95034793 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	624	113
EGFL7	51162	broad.mit.edu	37	9	139564693	139564693	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139564693G>A	ENST00000371699.1	+	7	1393	c.482G>A	c.(481-483)tGc>tAc	p.C161Y	EGFL7_ENST00000492002.1_3'UTR|EGFL7_ENST00000371698.3_Missense_Mutation_p.C161Y|EGFL7_ENST00000308874.7_Missense_Mutation_p.C161Y|EGFL7_ENST00000406555.3_Missense_Mutation_p.C161Y			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	161	EGF-like 2; calcium-binding (Potential).				angiogenesis|vasculogenesis		calcium ion binding			kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		AGTTACTGGTGCCAGTGTTGG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	33	32			NA	NA	9		NA											NA				139564693		2202	4295	6497	SO:0001583	missense			AF186111	CCDS7002.1	9q34.3	2008-02-05			ENSG00000172889	ENSG00000172889	51162	51162			20594	protein-coding gene	gene with protein product		608582			NA		Standard	NM_016215	NM_016215	NA	Approved	ZNEU1	uc004cih.3	Q9UHF1	OTTHUMG00000020938	ENST00000371699.1:c.482G>A	9.37:g.139564693G>A	ENSP00000360764:p.Cys161Tyr	NA	B3KRP0|Q5M7Y5|Q5VUD5|Q96EG0	37	CCDS7002.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400622	0.83120	.	.	ENSG00000172889	ENST00000371699;ENST00000308874;ENST00000406555;ENST00000371698	D;D;D;D	0.99194	-5.54;-5.54;-5.54;-5.54	5.26	5.26	0.73747	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);	0.000000	0.85682	D	0.000000	D	0.99694	0.9884	H	0.99609	4.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96994	0.9724	10	0.87932	D	0	-25.823	17.8471	0.88733	0.0:0.0:1.0:0.0	.	161	Q9UHF1	EGFL7_HUMAN	Y	161	ENSP00000360764:C161Y;ENSP00000307843:C161Y;ENSP00000385639:C161Y;ENSP00000360763:C161Y	ENSP00000307843:C161Y	C	+	2	0	EGFL7	138684514	1.000000	0.71417	0.972000	0.41901	0.686000	0.39977	7.784000	0.85713	2.453000	0.82957	0.561000	0.74099	TGC	EGFL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055094.1		+	ENST00000371699.1	Missense_Mutation	SNP	9 : 139564693 - 139564693 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	53
TIMD4	91937	broad.mit.edu	37	5	156381524	156381524	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156381524T>G	ENST00000274532.2	-	2	358	c.302A>C	c.(301-303)aAc>aCc	p.N101T	TIMD4_ENST00000407087.3_Missense_Mutation_p.N101T	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	101	Ig-like V-type.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCACTGGGGTTTAAGATGGT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	93	97			NA	NA	5		NA											NA				156381524		2203	4300	6503	SO:0001583	missense			BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850	91937	91937		Immunoglobulin superfamily / V-set domain containing	25132	protein-coding gene	gene with protein product		610096			NA	12477932	Standard	NM_138379	NM_001146726	NA	Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.302A>C	5.37:g.156381524T>G	ENSP00000274532:p.Asn101Thr	NA		37	CCDS4332.1	.	.	.	.	.	.	.	.	.	.	t	17.54	3.415032	0.62511	.	.	ENSG00000145850	ENST00000274532;ENST00000407087	T;T	0.03717	3.83;3.83	5.54	4.37	0.52481	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.415179	0.23091	N	0.052024	T	0.13841	0.0335	M	0.87097	2.86	0.09310	N	1	D;D	0.53619	0.961;0.961	P;P	0.52627	0.704;0.704	T	0.07290	-1.0780	10	0.66056	D	0.02	-12.6664	10.9502	0.47325	0.0:0.074:0.0:0.926	.	101;101	B5MCL9;Q96H15	.;TIMD4_HUMAN	T	101	ENSP00000274532:N101T;ENSP00000385973:N101T	ENSP00000274532:N101T	N	-	2	0	TIMD4	156314102	0.201000	0.23410	0.019000	0.16419	0.012000	0.07955	3.545000	0.53648	0.935000	0.37341	0.533000	0.62120	AAC	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252568.1		-	ENST00000274532.2	Missense_Mutation	SNP	5 : 156381524 - 156381524 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	272	60
WFDC3	140686	broad.mit.edu	37	20	44405742	44405742	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44405742G>A	ENST00000372632.2	-	3	286				WFDC3_ENST00000481847.1_Intron|WFDC3_ENST00000243938.4_Silent_p.G155G|WFDC3_ENST00000372630.2_Intron			Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3	NA						extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				GGCAGGTGCGGCCACAGCCGG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	52	55			NA	NA	20		NA											NA				44405742		2203	4300	6503	SO:0001627	intron_variant			AL050348	CCDS33478.1	20q13.12	2013-01-21			ENSG00000124116	ENSG00000124116	140686	140686		WAP four-disulfide core domain containing	15957	protein-coding gene	gene with protein product					NA	12206714, 10680116	Standard		NM_080614	NA	Approved	dJ447F3.3, WAP14	uc002xpf.1	Q8IUB2	OTTHUMG00000032614	ENST00000372632.2:c.212-1501C>T	20.37:g.44405742G>A		NA	A6PVF2|Q0P6A5|Q3T1C5|Q8TC52|Q9BQP3|Q9BQP4	37		.	.	.	.	.	.	.	.	.	.	G	5.509	0.278801	0.10458	.	.	ENSG00000124116	ENST00000337205	.	.	.	4.62	-5.88	0.02290	.	.	.	.	.	T	0.34308	0.0893	.	.	.	0.44966	D	0.99798	.	.	.	.	.	.	T	0.41910	-0.9482	4	.	.	.	-18.3447	0.1543	0.00096	0.3196:0.237:0.2028:0.2406	.	.	.	.	V	149	.	.	A	-	2	0	WFDC3	43839149	0.017000	0.18338	0.095000	0.20976	0.737000	0.42083	-1.363000	0.02592	-0.847000	0.04168	-0.137000	0.14449	GCC	WFDC3-014	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000316865.1		-	ENST00000372632.2	Intron	SNP	20 : 44405742 - 44405742 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	229	58
MSRA	4482	broad.mit.edu	37	8	10102688	10102688	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10102688G>A	ENST00000521209.2	+	3	274	c.88G>A	c.(88-90)Gca>Aca	p.A30T	MSRA_ENST00000441698.2_Intron|MSRA_ENST00000528246.1_Missense_Mutation_p.A30T|MSRA_ENST00000518255.1_Missense_Mutation_p.A96T|MSRA_ENST00000317173.4_Missense_Mutation_p.A96T|MSRA_ENST00000382490.5_Missense_Mutation_p.A53T			Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	96					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	AGTTGGTTTTGCAGGAGGCTA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(88;1378 1469 30580 49103 52286)							NA				0													103	107	106			NA	NA	8		NA											NA				10102688		2203	4300	6503	SO:0001583	missense			BC054033	CCDS5975.1, CCDS47798.1, CCDS47799.1, CCDS56522.1	8p23.1	2009-07-10			ENSG00000175806	ENSG00000175806	4482	4482	1.8.4.11		7377	protein-coding gene	gene with protein product		601250			NA	10452521	Standard	NM_012331	NM_012331	NA	Approved		uc003wsx.3	Q9UJ68	OTTHUMG00000090517	ENST00000521209.2:c.88G>A	8.37:g.10102688G>A	ENSP00000435644:p.Ala30Thr	NA	E9PAS8|Q52TC4|Q549N4|Q66MI7	37		.	.	.	.	.	.	.	.	.	.	G	24.3	4.520417	0.85495	.	.	ENSG00000175806	ENST00000317173;ENST00000518255;ENST00000521209;ENST00000522907;ENST00000528246;ENST00000382490	.	.	.	5.66	5.66	0.87406	.	0.130128	0.53938	D	0.000051	T	0.66925	0.2839	L	0.46947	1.48	0.48395	D	0.999646	D;P;D	0.61697	0.99;0.955;0.977	D;P;P	0.65323	0.934;0.791;0.867	T	0.64166	-0.6471	8	.	.	.	-22.8028	13.3246	0.60452	0.0:0.0:0.842:0.158	.	53;53;96	B7Z694;Q9UJ68-3;Q9UJ68	.;.;MSRA_HUMAN	T	96;96;30;30;30;53	.	.	A	+	1	0	MSRA	10140098	1.000000	0.71417	0.846000	0.33378	0.998000	0.95712	4.700000	0.61803	2.675000	0.91044	0.655000	0.94253	GCA	MSRA-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000375427.2		+	ENST00000521209.2	Missense_Mutation	SNP	8 : 10102688 - 10102688 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	550	79
INSRR	3645	broad.mit.edu	37	1	156813243	156813243	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156813243G>T	ENST00000368195.3	-	16	3268	c.2872C>A	c.(2872-2874)Cca>Aca	p.P958T	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	958					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AAGTACTCTGGATTCACAGAA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	167	165			NA	NA	1		NA											NA				156813243		2203	4300	6503	SO:0001583	missense			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644	3645	3645		Fibronectin type III domain containing	6093	protein-coding gene	gene with protein product		147671			NA	2768234, 2249481	Standard	NM_014215	NM_014215	NA	Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.2872C>A	1.37:g.156813243G>T	ENSP00000357178:p.Pro958Thr	NA	O60724|Q5VZS3	37	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524442	0.85600	.	.	ENSG00000027644	ENST00000368195	D	0.88975	-2.45	5.12	5.12	0.69794	.	0.000000	0.46758	D	0.000275	D	0.93654	0.7973	.	.	.	0.58432	D	0.999997	D	0.71674	0.998	D	0.74348	0.983	D	0.94153	0.7407	9	0.87932	D	0	.	16.0824	0.81014	0.0:0.0:1.0:0.0	.	958	P14616	INSRR_HUMAN	T	958	ENSP00000357178:P958T	ENSP00000357178:P958T	P	-	1	0	INSRR	155079867	1.000000	0.71417	0.880000	0.34516	0.970000	0.65996	6.042000	0.70996	2.649000	0.89929	0.591000	0.81541	CCA	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000098929.1		-	ENST00000368195.3	Missense_Mutation	SNP	1 : 156813243 - 156813243 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1360	221
PIK3C2A	5286	broad.mit.edu	37	11	17156420	17156420	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17156420T>C	ENST00000265970.7	-	10	2053	c.2054A>G	c.(2053-2055)cAg>cGg	p.Q685R	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.Q305R	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	685					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	AAACTGGAGCTGCTCTGTTGT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	140	140			NA	NA	11		NA											NA				17156420		2200	4293	6493	SO:0001583	missense			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	5286	5286	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	phosphoinositide-3-kinase, class 2, alpha polypeptide		NA	9337861	Standard	NM_002645	NM_002645	NA	Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.2054A>G	11.37:g.17156420T>C	ENSP00000265970:p.Gln685Arg	NA	B0LPH2|Q14CQ9	37	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	T	15.75	2.925415	0.52759	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.62364	0.03;0.4	5.59	5.59	0.84812	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.155014	0.56097	D	0.000027	T	0.51534	0.1680	L	0.40543	1.245	0.32711	N	0.511585	B	0.29716	0.255	B	0.27262	0.078	T	0.57093	-0.7870	10	0.11794	T	0.64	-0.5823	15.8332	0.78773	0.0:0.0:0.0:1.0	.	685	O00443	P3C2A_HUMAN	R	685;305	ENSP00000265970:Q685R;ENSP00000438687:Q305R	ENSP00000265970:Q685R	Q	-	2	0	PIK3C2A	17112996	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.733000	0.74796	2.153000	0.67306	0.477000	0.44152	CAG	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387553.1		-	ENST00000265970.7	Missense_Mutation	SNP	11 : 17156420 - 17156420 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	606	117
RPL4	6124	broad.mit.edu	37	15	66807941	66807941	+	Silent	SNP	C	C	T	rs143266025		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66807941C>T	ENST00000568588.1	-	1	78				ZWILCH_ENST00000446801.2_5'UTR|ZWILCH_ENST00000307897.5_Silent_p.G93G|ZWILCH_ENST00000535141.2_5'UTR|ZWILCH_ENST00000565960.1_3'UTR|ZWILCH_ENST00000565627.1_5'UTR|RPL4_ENST00000564517.1_Intron			P36578	RL4_HUMAN	ribosomal protein L4	NA					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						TCTCTACTGGCGAAAATGTTG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4402		0,0,2201	104	99	101		279	-1.4	1	15	dbSNP_134	101	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	ZWILCH	NM_017975.3		0,1,6499	TT,TC,CC	NA	0.0116,0.0,0.0077		93/592	66807941	1,12999	2201	4299	6500	SO:0001627	intron_variant			AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444	6124	6124		L ribosomal proteins	10353	protein-coding gene	gene with protein product	60S ribosomal protein L4	180479			NA	9582194, 8268230	Standard	NM_000968	NM_000968	NA	Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000568588.1:c.700+8851G>A	15.37:g.66807941C>T		NA	A8K502|P39029|Q4VBR0|Q969Z9	37																																																																																				RPL4-020	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000420737.1		-	ENST00000568588.1	Intron	SNP	15 : 66807941 - 66807941 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	199	35
IMMP2L	83943	broad.mit.edu	37	7	110762985	110762985	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:110762985G>T	ENST00000450877.1	-	3	296				IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.V53L|LRRN3_ENST00000422987.3_Missense_Mutation_p.V53L|LRRN3_ENST00000308478.5_Missense_Mutation_p.V53L			Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	NA					protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		AGCATCTACAGTGGATTGTAA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	140	145			NA	NA	7		NA											NA				110762985		2203	4300	6503	SO:0001627	intron_variant			AF359563	CCDS5753.1	7q31	2014-01-06	2005-08-17		ENSG00000184903	ENSG00000184903	83943	83943			14598	protein-coding gene	gene with protein product		605977	IMP2 inner mitochondrial membrane protease-like (S. cerevisiae), IMMP2L intronic transcript 1 (non-protein coding)	IMMP2L-IT1	NA	11254443	Standard	NM_032549	NM_032549	NA	Approved	IMP2	uc010ljr.2	Q96T52	OTTHUMG00000155023	ENST00000450877.1:c.186-159364C>A	7.37:g.110762985G>T		NA	Q75MF1|Q75MN9|Q75MP0|Q75MS5|Q75MS8|Q96HJ2	37		.	.	.	.	.	.	.	.	.	.	G	22.8	4.336120	0.81801	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987;ENST00000421101	D;D;D;D	0.98633	-5.04;-5.04;-5.04;-5.04	5.98	5.98	0.97165	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.52532	D	0.000068	D	0.99162	0.9710	M	0.81942	2.565	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.99364	1.0918	10	0.44086	T	0.13	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	53	Q9H3W5	LRRN3_HUMAN	L	53	ENSP00000312001:V53L;ENSP00000397312:V53L;ENSP00000412417:V53L;ENSP00000407927:V53L	ENSP00000312001:V53L	V	+	1	0	LRRN3	110550221	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.954000	0.87848	2.835000	0.97688	0.650000	0.86243	GTG	IMMP2L-008	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000338259.1		-	ENST00000450877.1	Intron	SNP	7 : 110762985 - 110762985 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	630	84
KCNA5	3741	broad.mit.edu	37	12	5153586	5153586	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:5153586G>A	ENST00000252321.3	+	1	502	c.273G>A	c.(271-273)ccG>ccA	p.P91P		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	91						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						CTCGACGGCCGCCTCCCGAGG	0.731		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													10	11	11			NA	NA	12		NA											NA				5153586		2172	4240	6412	SO:0001819	synonymous_variant			M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037	3741	3741		Potassium channels, Voltage-gated ion channels / Potassium channels	6224	protein-coding gene	gene with protein product		176267			NA	16382104	Standard	NM_002234	NM_002234	NA	Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.273G>A	12.37:g.5153586G>A		NA	Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	37	CCDS8536.1																																																																																			KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398925.2		+	ENST00000252321.3	Silent	SNP	12 : 5153586 - 5153586 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	111	12
TMEM110	375346	broad.mit.edu	37	3	52877775	52877775	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52877775G>T	ENST00000355083.5	-	6	725	c.580C>A	c.(580-582)Ctg>Atg	p.L194M	TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.L194M	NM_198563.2	NP_940965.1			transmembrane protein 110	NA										kidney(1)|large_intestine(1)|lung(2)	4				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)		ACGATGGCCAGCTTCAAGTCT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	157	164			NA	NA	3		NA											NA				52877775		2203	4300	6503	SO:0001583	missense			BC047015	CCDS2866.1	3p21.1	2010-08-13			ENSG00000213533	ENSG00000213533	375346	375346			30526	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_198563	NM_198563	NA	Approved	MGC52022		Q86TL2	OTTHUMG00000150346	ENST00000355083.5:c.580C>A	3.37:g.52877775G>T	ENSP00000347195:p.Leu194Met	NA		37	CCDS2866.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328120	0.81690	.	.	ENSG00000248592;ENSG00000213533	ENST00000504329;ENST00000355083	.	.	.	5.31	4.44	0.53790	.	0.000000	0.64402	U	0.000003	T	0.81074	0.4747	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.84463	0.0595	9	0.72032	D	0.01	-7.9897	14.0255	0.64584	0.073:0.0:0.927:0.0	.	194;194	Q86TL2;A8MSY1	TM110_HUMAN;.	M	194	.	ENSP00000347195:L194M	L	-	1	2	TMEM110-MUSTN1;TMEM110	52852815	0.998000	0.40836	0.993000	0.49108	0.994000	0.84299	2.107000	0.41844	1.242000	0.43836	0.561000	0.74099	CTG	TMEM110-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352949.2		-	ENST00000355083.5	Missense_Mutation	SNP	3 : 52877775 - 52877775 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	485	91
CDH22	64405	broad.mit.edu	37	20	44803650	44803650	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44803650T>C	ENST00000372262.3	-	11	2382	c.1982A>G	c.(1981-1983)gAa>gGa	p.E661G	CDH22_ENST00000537909.1_Missense_Mutation_p.E661G	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	661					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CCGCATGTCTTCATCCTCGTC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	47	47			NA	NA	20		NA											NA				44803650		2159	4261	6420	SO:0001583	missense			AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654	64405	64405		Cadherins / Major cadherins	13251	protein-coding gene	gene with protein product		609920	cadherin-like 22	C20orf25	NA	8626716	Standard	NM_021248	NM_021248	NA	Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1982A>G	20.37:g.44803650T>C	ENSP00000361336:p.Glu661Gly	NA	B9EGK7|O43205	37	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.132480	0.77662	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.79352	-1.26;-1.26	4.03	4.03	0.46877	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.85906	0.5806	M	0.71296	2.17	0.44261	D	0.997118	D	0.89917	1.0	D	0.91635	0.999	D	0.87302	0.2306	10	0.87932	D	0	.	11.9296	0.52839	0.0:0.0:0.0:1.0	.	661	Q9UJ99	CAD22_HUMAN	G	661	ENSP00000361336:E661G;ENSP00000437790:E661G	ENSP00000361336:E661G	E	-	2	0	CDH22	44237057	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.020000	0.57189	1.691000	0.51100	0.460000	0.39030	GAA	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080491.1		-	ENST00000372262.3	Missense_Mutation	SNP	20 : 44803650 - 44803650 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	367	57
VSNL1	7447	broad.mit.edu	37	2	17773500	17773500	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17773500G>A	ENST00000406397.1	+	2	684	c.159G>A	c.(157-159)gtG>gtA	p.V53V	VSNL1_ENST00000404666.2_Silent_p.V53V|VSNL1_ENST00000295156.4_Silent_p.V53V			P62760	VISL1_HUMAN	visinin-like 1	53	EF-hand 1.						calcium ion binding			NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGCTCTATGTGAAGGTAAGTT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	135	137			NA	NA	2		NA											NA				17773500		2203	4300	6503	SO:0001819	synonymous_variant				CCDS1689.1	2p24.3	2013-01-10			ENSG00000163032	ENSG00000163032	7447	7447		EF-hand domain containing	12722	protein-coding gene	gene with protein product	hippocalcin-like protein 3	600817			NA	8530085, 2202488	Standard	NM_003385	NM_003385	NA	Approved	VILIP, HPCAL3, HUVISL1, HLP3, VILIP-1	uc002rcm.3	P62760	OTTHUMG00000090645	ENST00000406397.1:c.159G>A	2.37:g.17773500G>A		NA	D6W515|P28677|P29103|P42323|Q9UM20	37	CCDS1689.1																																																																																			VSNL1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323803.1		+	ENST00000406397.1	Silent	SNP	2 : 17773500 - 17773500 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	841	66
TECTB	6975	broad.mit.edu	37	10	114053768	114053768	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114053768C>T	ENST00000369422.3	+	6	620	c.620C>T	c.(619-621)aCc>aTc	p.T207I		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	207	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		TGTTGGGCCACCCCCTCGGCT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	100	100			NA	NA	10		NA											NA				114053768		2203	4300	6503	SO:0001583	missense			AF312827	CCDS7571.1	10q25-q26	2005-06-09			ENSG00000119913	ENSG00000119913	6975	6975			11721	protein-coding gene	gene with protein product		602653			NA	9079715	Standard	NM_058222	NM_058222	NA	Approved		uc001kzr.1	Q96PL2	OTTHUMG00000019056	ENST00000369422.3:c.620C>T	10.37:g.114053768C>T	ENSP00000358430:p.Thr207Ile	NA	Q5VW53	37	CCDS7571.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960388	0.92791	.	.	ENSG00000119913	ENST00000369422	D	0.86097	-2.07	5.67	5.67	0.87782	Endoglin/CD105 antigen conserved site (1);Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.102794	0.64402	D	0.000003	D	0.93478	0.7919	M	0.88241	2.94	0.58432	D	0.999999	D	0.71674	0.998	D	0.69479	0.964	D	0.94079	0.7342	10	0.87932	D	0	.	18.3222	0.90242	0.0:1.0:0.0:0.0	.	207	Q96PL2	TECTB_HUMAN	I	207	ENSP00000358430:T207I	ENSP00000358430:T207I	T	+	2	0	TECTB	114043758	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.303000	0.72794	2.836000	0.97738	0.655000	0.94253	ACC	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050381.1		+	ENST00000369422.3	Missense_Mutation	SNP	10 : 114053768 - 114053768 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	298	57
FAM120B	84498	broad.mit.edu	37	6	170626923	170626923	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170626923G>T	ENST00000476287.1	+	2	553	c.445G>T	c.(445-447)Ggc>Tgc	p.G149C	FAM120B_ENST00000537664.1_Missense_Mutation_p.G172C|FAM120B_ENST00000540480.1_Missense_Mutation_p.G161C|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	149					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		AAAGACACTGGGCCAGGAAAC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	78	79			NA	NA	6		NA											NA				170626923		2203	4300	6503	SO:0001583	missense			AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584	84498	84498			21109	protein-coding gene	gene with protein product	PPARgamma constitutive coactivator 1, constitutive coactivator of PPAR-gamma	612266	KIAA1838	KIAA1838	NA	14585507	Standard	NM_032448	NM_032448	NA	Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.445G>T	6.37:g.170626923G>T	ENSP00000417970:p.Gly149Cys	NA	Q86V68|Q96JI9	37	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160760	0.57368	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.56444	0.46;0.46;0.46	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.70272	0.3205	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70718	-0.4795	10	0.87932	D	0	-23.9753	20.6593	0.99626	0.0:0.0:1.0:0.0	.	149;149	Q96EK7;F2Z2E1	F120B_HUMAN;.	C	161;172;149	ENSP00000444125:G161C;ENSP00000440125:G172C;ENSP00000417970:G149C	ENSP00000436640:G149C	G	+	1	0	FAM120B	170468848	1.000000	0.71417	0.999000	0.59377	0.097000	0.18754	9.175000	0.94831	2.885000	0.99019	0.655000	0.94253	GGC	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043259.2		+	ENST00000476287.1	Missense_Mutation	SNP	6 : 170626923 - 170626923 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	479	102
SLC10A1	6554	broad.mit.edu	37	14	70252828	70252828	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70252828G>A	ENST00000216540.4	-	2	686	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	185					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)		ATGACATAGCGCATGTATTGT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/ARG	1,4405		0,1,2202	169	146	154		553	3.2	0.4	14		154	0,8600		0,0,4300	no	missense	SLC10A1	NM_003049.3	180	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging	185/350	70252828	1,13005	2203	4300	6503	SO:0001583	missense			L21893	CCDS9797.1	14q24.2	2013-07-18	2013-07-18		ENSG00000100652	ENSG00000100652	6554	6554		Solute carriers	10905	protein-coding gene	gene with protein product		182396			NA	8132774	Standard		NM_003049	NA	Approved	NTCP	uc001xlr.2	Q14973	OTTHUMG00000171236	ENST00000216540.4:c.553C>T	14.37:g.70252828G>A	ENSP00000216540:p.Arg185Cys	NA	B9EGB6|Q2TU29	37	CCDS9797.1	.	.	.	.	.	.	.	.	.	.	G	3.033	-0.199272	0.06219	2.27E-4	0.0	ENSG00000100652	ENST00000216540	T	0.12672	2.66	5.01	3.15	0.36227	.	0.641375	0.16982	N	0.191666	T	0.19287	0.0463	M	0.80183	2.485	0.09310	N	1	B	0.21147	0.052	B	0.16722	0.016	T	0.13818	-1.0495	10	0.59425	D	0.04	-5.434	9.8085	0.40808	0.0762:0.3746:0.5491:0.0	.	185	Q14973	NTCP_HUMAN	C	185	ENSP00000216540:R185C	ENSP00000216540:R185C	R	-	1	0	SLC10A1	69322581	0.002000	0.14202	0.444000	0.26895	0.010000	0.07245	0.911000	0.28584	0.793000	0.33875	-0.305000	0.09177	CGC	SLC10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412464.1		-	ENST00000216540.4	Missense_Mutation	SNP	14 : 70252828 - 70252828 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	403	66
TSSK1B	83942	broad.mit.edu	37	5	112770312	112770312	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112770312G>A	ENST00000390666.3	-	1	416	c.225C>T	c.(223-225)acC>acT	p.T75T	MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	75	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		AGATCTCGTAGGTCTTAATGA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	64	62			NA	NA	5		NA											NA				112770312		2169	4285	6454	SO:0001819	synonymous_variant			AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122	83942	83942			14968	protein-coding gene	gene with protein product		610709	serine/threonine kinase 22D (spermiogenesis associated), testis-specific serine kinase 1	STK22D, TSSK1	NA	15044604	Standard	NM_032028	NM_032028	NA	Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.225C>T	5.37:g.112770312G>A		NA	B2R8D9	37	CCDS4112.1																																																																																			TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250774.2		-	ENST00000390666.3	Silent	SNP	5 : 112770312 - 112770312 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	59
GTPBP6	8225	broad.mit.edu	37	X	224168	224168	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:224168G>A	ENST00000326153.4	-	5	598	c.599C>T	c.(598-600)aCg>aTg	p.T200M				O43824	GTPB6_HUMAN	GTP binding protein 6 (putative)	429						intracellular	GTP binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)	7		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GTTCGGTTCCGTGGGGCTGTA	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0									MET/THR	1,3959		0,1,1979	31	36	34		600	1.7	0	X		34	0,8244		0,0,4122	no	missense	GTPBP6	NM_012227.2	81	0,1,6101	AA,AG,GG	NA	0.0,0.0253,0.0082	possibly-damaging	429/517	224168	1,12203	1980	4122	6102	SO:0001583	missense			Y14391	CCDS75943.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000178605	ENSG00000178605	8225	8225		Pseudoautosomal regions / PAR1	30189	protein-coding gene	gene with protein product	pseudoautosomal GTP binding protein-like	300124			NA	9466997	Standard	NM_012227	XM_006724447	NA	Approved	PGPL, FLJ20977	uc004cpe.1	O43824	OTTHUMG00000022694	ENST00000326153.4:c.599C>T	X.37:g.224168G>A	ENSP00000316598:p.Thr200Met	NA	Q53F77|Q5HYX8	37		.	.	.	.	.	.	.	.	.	.	.	5.744	0.321720	0.10845	2.53E-4	0.0	ENSG00000178605	ENST00000326153	.	.	.	2.55	1.66	0.24008	.	1.029250	0.07715	U	0.942660	T	0.16214	0.0390	.	.	.	0.25601	N	0.986597	P	0.46859	0.885	B	0.27796	0.083	T	0.18147	-1.0346	7	0.48119	T	0.1	-0.5165	6.1419	0.20265	0.164:0.0:0.836:0.0	.	429	O43824	GTPB6_HUMAN	M	200	.	ENSP00000316598:T200M	T	-	2	0	GTPBP6	164168	0.062000	0.20869	0.000000	0.03702	0.079000	0.17450	0.551000	0.23361	0.218000	0.20820	0.164000	0.16699	ACG	GTPBP6-201	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding			-	ENST00000326153.4	Missense_Mutation	SNP	X : 224168 - 224168 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	106	38
TMEM159	57146	broad.mit.edu	37	16	21181905	21181905	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21181905C>A	ENST00000572258.1	+	3	428	c.244C>A	c.(244-246)Ctg>Atg	p.L82M	TMEM159_ENST00000572599.1_Missense_Mutation_p.L82M|TMEM159_ENST00000574092.1_3'UTR|TMEM159_ENST00000233047.4_Missense_Mutation_p.L82M|TMEM159_ENST00000451578.2_Missense_Mutation_p.L106M|TMEM159_ENST00000261388.3_Missense_Mutation_p.L82M			Q96B96	TM159_HUMAN	transmembrane protein 159	82						integral to membrane				large_intestine(3)|lung(2)|ovary(1)	6				GBM - Glioblastoma multiforme(48;0.0972)		GGCTGCTCTGCTGGGGGTCAT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													188	154	166			NA	NA	16		NA											NA				21181905		2200	4300	6500	SO:0001583	missense			AF070596	CCDS10595.1	16p12.2	2008-02-05			ENSG00000011638	ENSG00000011638	57146	57146			30136	protein-coding gene	gene with protein product		611304			NA	8619474, 9110174, 15589683	Standard	NM_020422	NM_020422	NA	Approved	promethin	uc002dif.4	Q96B96	OTTHUMG00000131559	ENST00000572258.1:c.244C>A	16.37:g.21181905C>A	ENSP00000459481:p.Leu82Met	NA	A6NMA9|O00323	37		.	.	.	.	.	.	.	.	.	.	C	5.328	0.245831	0.10077	.	.	ENSG00000011638	ENST00000233047;ENST00000261388;ENST00000451578	T;T;T	0.18810	2.19;2.19;2.19	5.48	0.112	0.14623	.	0.453294	0.21551	N	0.072728	T	0.07954	0.0199	N	0.11255	0.115	0.25155	N	0.990391	B;B	0.22003	0.053;0.063	B;B	0.20955	0.032;0.013	T	0.19031	-1.0318	10	0.36615	T	0.2	-4.6191	1.3316	0.02136	0.2386:0.2792:0.3437:0.1385	.	106;82	B4DEC1;Q96B96	.;TM159_HUMAN	M	82;82;106	ENSP00000233047:L82M;ENSP00000261388:L82M;ENSP00000409879:L106M	ENSP00000233047:L82M	L	+	1	2	TMEM159	21089406	0.966000	0.33281	0.822000	0.32727	0.061000	0.15899	0.354000	0.20146	0.026000	0.15269	-0.147000	0.13772	CTG	TMEM159-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000436523.1		+	ENST00000572258.1	Missense_Mutation	SNP	16 : 21181905 - 21181905 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	498	135
SLC13A4	26266	broad.mit.edu	37	7	135376316	135376316	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135376316C>T	ENST00000354042.4	-	12	1987	c.1298G>A	c.(1297-1299)tGc>tAc	p.C433Y	C7orf73_ENST00000422968.1_Intron	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	433						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						TTTCCCAAAGCAGGGCTTCTT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	74	75			NA	NA	7		NA											NA				135376316		2203	4300	6503	SO:0001583	missense			AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707	26266	26266		Solute carriers	15827	protein-coding gene	gene with protein product	sulphate transporter 1	604309	solute carrier family 13 (sodium/sulphate symporters), member 4		NA	10535998	Standard	NM_012450	NM_012450	NA	Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.1298G>A	7.37:g.135376316C>T	ENSP00000297282:p.Cys433Tyr	NA	A4D1Q4|Q8N631	37	CCDS5840.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073514	0.55646	.	.	ENSG00000164707	ENST00000354042	T	0.69040	-0.37	5.69	4.8	0.61643	.	0.065014	0.64402	D	0.000004	T	0.54303	0.1850	L	0.27053	0.805	0.49051	D	0.999741	P;P	0.46395	0.877;0.714	P;B	0.45232	0.474;0.34	T	0.52193	-0.8608	10	0.07175	T	0.84	-19.8065	14.4043	0.67071	0.0:0.8512:0.1488:0.0	.	302;433	Q59HF0;Q9UKG4	.;S13A4_HUMAN	Y	433	ENSP00000297282:C433Y	ENSP00000297282:C433Y	C	-	2	0	SLC13A4	135026856	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.887000	0.56197	1.382000	0.46385	0.655000	0.94253	TGC	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340558.1		-	ENST00000354042.4	Missense_Mutation	SNP	7 : 135376316 - 135376316 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	227	37
NLRP4	147945	broad.mit.edu	37	19	56369008	56369008	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56369008G>A	ENST00000587891.1	+	1	198	c.24G>A	c.(22-24)tgG>tgA	p.W8*	NLRP4_ENST00000346986.5_Intron|NLRP4_ENST00000301295.6_Intron			Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	0	DAPIN.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TAACTTTGTGGGTTTTCTCTC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	57	57			NA	NA	19		NA											NA				56369008		2203	4300	6503	SO:0001587	stop_gained			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08			147945	147945		Nucleotide-binding domain and leucine rich repeat containing	22943	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4, cancer/testis antigen 58	609645	NACHT, leucine rich repeat and PYD containing 4	NALP4	NA	12563287, 12019269	Standard	NM_134444	NM_134444	NA	Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000587891.1:c.24G>A	19.37:g.56369008G>A	ENSP00000465463:p.Trp8*	NA	Q86W87|Q96AY6	37																																																																																				NLRP4-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000457368.1		+	ENST00000587891.1	Nonsense_Mutation	SNP	19 : 56369008 - 56369008 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	39
HOXA5	3202	broad.mit.edu	37	7	27182814	27182814	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27182814C>A	ENST00000222726.3	-	1	473	c.413G>T	c.(412-414)aGc>aTc	p.S138I	RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	138					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						CTCTCTGCTGCTGATGTGGGT	0.746		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(119;75 2200 7557 42868)							NA				0													22	28	26			NA	NA	7		NA											NA				27182814		2189	4288	6477	SO:0001583	missense				CCDS5406.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106004	ENSG00000106004	3202	3202		Homeoboxes / ANTP class : HOXL subclass	5106	protein-coding gene	gene with protein product		142952	homeo box A5	HOX1C, HOX1	NA	1973146, 1358459	Standard		NM_019102	NA	Approved		uc003syn.2	P20719	OTTHUMG00000023214	ENST00000222726.3:c.413G>T	7.37:g.27182814C>A	ENSP00000222726:p.Ser138Ile	NA	A4D179|O43367|Q96CY6	37	CCDS5406.1	.	.	.	.	.	.	.	.	.	.	C	8.753	0.921704	0.17982	.	.	ENSG00000106004	ENST00000222726	D	0.92249	-3.0	4.21	2.41	0.29592	.	0.134181	0.64402	D	0.000003	D	0.82981	0.5155	N	0.21448	0.665	0.31152	N	0.705393	B	0.02656	0.0	B	0.04013	0.001	T	0.74987	-0.3476	10	0.30854	T	0.27	.	6.9164	0.24361	0.1432:0.7032:0.0:0.1537	.	138	P20719	HXA5_HUMAN	I	138	ENSP00000222726:S138I	ENSP00000222726:S138I	S	-	2	0	HOXA5	27149339	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.840000	0.39230	0.726000	0.32339	0.591000	0.81541	AGC	HOXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358705.1		-	ENST00000222726.3	Missense_Mutation	SNP	7 : 27182814 - 27182814 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	502	86
HSP90B1	7184	broad.mit.edu	37	12	104340598	104340598	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104340598C>A	ENST00000299767.5	+	16	2323	c.2141C>A	c.(2140-2142)gCt>gAt	p.A714D		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	714					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	TTGGATCTTGCTGTGGTTTTG	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	72	72			NA	NA	12		NA											NA				104340598		2203	4300	6503	SO:0001583	missense			AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598	7184	7184		Heat shock proteins / HSPC	12028	protein-coding gene	gene with protein product		191175	tumor rejection antigen (gp96) 1	TRA1	NA	16269234	Standard	NM_003299	NM_003299	NA	Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.2141C>A	12.37:g.104340598C>A	ENSP00000299767:p.Ala714Asp	NA	Q96A97	37	CCDS9094.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.508297|5.508297	0.96386|0.96386	.|.	.|.	ENSG00000166598|ENSG00000166598	ENST00000299767;ENST00000421266|ENST00000550595	T|.	0.50813|.	0.73|.	5.94|5.94	5.94|5.94	0.96194|0.96194	.|.	0.100176|.	0.64402|.	D|.	0.000002|.	D|D	0.91580|0.91580	0.7340|0.7340	H|H	0.98996|0.98996	4.395|4.395	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.94221|0.94221	0.7467|0.7467	10|5	0.87932|.	D|.	0|.	.|.	20.3736|20.3736	0.98901|0.98901	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	714|.	P14625|.	ENPL_HUMAN|.	D|M	714;464|65	ENSP00000299767:A714D|.	ENSP00000299767:A714D|.	A|L	+|+	2|1	0|2	HSP90B1|HSP90B1	102864728|102864728	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.818000|7.818000	0.86416|0.86416	2.820000|2.820000	0.97059|0.97059	0.650000|0.650000	0.86243|0.86243	GCT|CTG	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407349.1		+	ENST00000299767.5	Missense_Mutation	SNP	12 : 104340598 - 104340598 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	363	72
LEPRE1	64175	broad.mit.edu	37	1	43213012	43213012	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43213012C>A	ENST00000236040.4	-	14	2026	c.1986G>T	c.(1984-1986)aaG>aaT	p.K662N	LEPRE1_ENST00000296388.5_Missense_Mutation_p.K662N|LEPRE1_ENST00000462474.1_5'UTR|LEPRE1_ENST00000397054.3_Missense_Mutation_p.K662N	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	662	Fe2OG dioxygenase.				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGGTGACAGCCTTCACTCCAT	0.627		NA									OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	57	56			NA	NA	1		NA											NA				43213012		2202	4300	6502	SO:0001583	missense			AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385	64175	64175			19316	protein-coding gene	gene with protein product	prolyl 3-hydroxylase 1, growth suppressor 1	610339			NA	10951563	Standard	NM_022356	NM_022356	NA	Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000236040.4:c.1986G>T	1.37:g.43213012C>A	ENSP00000236040:p.Lys662Asn	914	Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	37	CCDS57986.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943455	0.53079	.	.	ENSG00000117385	ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027	T;T;T	0.59906	0.23;0.23;0.23	5.27	5.27	0.74061	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.267222	0.42294	D	0.000724	T	0.47266	0.1436	N	0.25426	0.745	0.43719	D	0.996194	B;B;B	0.21147	0.052;0.011;0.036	B;B;B	0.17433	0.016;0.011;0.018	T	0.42361	-0.9456	10	0.52906	T	0.07	-35.5553	16.4003	0.83639	0.0:1.0:0.0:0.0	.	662;527;662	Q32P28-3;B4DNM8;Q32P28	.;.;P3H1_HUMAN	N	662;662;662;527	ENSP00000380245:K662N;ENSP00000236040:K662N;ENSP00000296388:K662N	ENSP00000236040:K662N	K	-	3	2	LEPRE1	42985599	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	0.479000	0.22228	2.466000	0.83321	0.655000	0.94253	AAG	LEPRE1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019791.1		-	ENST00000236040.4	Missense_Mutation	SNP	1 : 43213012 - 43213012 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	360	49
SLC11A2	4891	broad.mit.edu	37	12	51390675	51390675	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51390675C>T	ENST00000262052.5	-	9	868	c.756G>A	c.(754-756)caG>caA	p.Q252Q	SLC11A2_ENST00000394904.3_Silent_p.Q281Q|SLC11A2_ENST00000547198.1_Silent_p.Q252Q|SLC11A2_ENST00000262051.7_Silent_p.Q252Q|SLC11A2_ENST00000541174.2_Silent_p.Q252Q|SLC11A2_ENST00000547688.1_Silent_p.Q281Q|SLC11A2_ENST00000545993.2_Silent_p.Q248Q|SLC11A2_ENST00000546743.1_Silent_p.Q173Q	NM_000617.2|NM_001174128.1	NP_000608.1|NP_001167599.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	252					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						CCTGTTCAATCTGTGGAGTGC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													225	145	172			NA	NA	12		NA											NA				51390675		2203	4300	6503	SO:0001819	synonymous_variant			AB015355	CCDS8805.1, CCDS53791.1, CCDS53792.1, CCDS53793.1	12q13	2013-07-18	2013-07-18		ENSG00000110911	ENSG00000110911	4891	4891		Solute carriers	10908	protein-coding gene	gene with protein product		600523		NRAMP2	NA	7613023	Standard		NM_000617	NA	Approved	DCT1, DMT1	uc001rxk.2	P49281	OTTHUMG00000169493	ENST00000262052.5:c.756G>A	12.37:g.51390675C>T		NA	B3KT08|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35	37	CCDS8805.1																																																																																			SLC11A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404386.1		-	ENST00000262052.5	Silent	SNP	12 : 51390675 - 51390675 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	330	60
CELSR1	9620	broad.mit.edu	37	22	46930291	46930291	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46930291C>T	ENST00000262738.3	-	1	2776	c.2777G>A	c.(2776-2778)cGt>cAt	p.R926H	CELSR1_ENST00000395964.1_Missense_Mutation_p.R926H	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	926	Cadherin 7.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTACAGCAGACGCCCATTGGG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	33	34			NA	NA	22		NA											NA				46930291		2200	4297	6497	SO:0001583	missense			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275	9620	9620		Cadherins / Major cadherins, -, GPCR / Class B : Orphans	1850	protein-coding gene	gene with protein product	flamingo homolog 2 (Drosophila)	604523	cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog		NA	9339365	Standard	NM_014246	XM_006724383	NA	Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.2777G>A	22.37:g.46930291C>T	ENSP00000262738:p.Arg926His	NA	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	37	CCDS14076.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.76|16.76	3.212976|3.212976	0.58452|0.58452	.|.	.|.	ENSG00000075275|ENSG00000075275	ENST00000262738;ENST00000395964|ENST00000454637	T;T|.	0.54479|.	0.57;0.57|.	4.42|4.42	4.42|4.42	0.53409|0.53409	Cadherin (4);Cadherin-like (1);|.	0.000000|.	0.64402|.	U|.	0.000012|.	T|T	0.68054|0.68054	0.2959|0.2959	L|L	0.48986|0.48986	1.54|1.54	0.40734|0.40734	D|D	0.982777|0.982777	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.67526|0.67526	-0.5648|-0.5648	10|5	0.72032|.	D|.	0.01|.	.|.	16.8638|16.8638	0.86024|0.86024	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	926|.	Q9NYQ6|.	CELR1_HUMAN|.	H|I	926|301	ENSP00000262738:R926H;ENSP00000379293:R926H|.	ENSP00000262738:R926H|.	R|V	-|-	2|1	0|0	CELSR1|CELSR1	45308955|45308955	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.538000|0.538000	0.34931|0.34931	7.376000|7.376000	0.79658|0.79658	2.297000|2.297000	0.77311|0.77311	0.462000|0.462000	0.41574|0.41574	CGT|GTC	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318037.1		-	ENST00000262738.3	Missense_Mutation	SNP	22 : 46930291 - 46930291 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	288	43
GPR182	11318	broad.mit.edu	37	12	57389519	57389519	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57389519G>T	ENST00000300098.1	+	2	745	c.526G>T	c.(526-528)Ggc>Tgc	p.G176C		NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	176						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						CATGTGTGCAGGCATCTGGGT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	64	67			NA	NA	12		NA											NA				57389519		2203	4300	6503	SO:0001583	missense			Y13583	CCDS8927.1	12q13.3	2012-08-21	2007-09-24	2007-09-24		ENSG00000166856	11318	11318		GPCR / Class A : Orphans	13708	protein-coding gene	gene with protein product		605307	adrenomedullin receptor	ADMR	NA	9367907, 9535752	Standard	NM_007264	NM_007264	NA	Approved	hrhAMR, G10D, AM-R	uc001smk.3	O15218		ENST00000300098.1:c.526G>T	12.37:g.57389519G>T	ENSP00000300098:p.Gly176Cys	NA		37	CCDS8927.1	.	.	.	.	.	.	.	.	.	.	g	8.415	0.844990	0.16963	.	.	ENSG00000166856	ENST00000300098	T	0.39056	1.1	4.44	1.61	0.23674	GPCR, rhodopsin-like superfamily (1);	0.249082	0.38492	N	0.001661	T	0.37433	0.1003	L	0.54323	1.7	0.28950	N	0.890447	P	0.39326	0.668	B	0.42882	0.401	T	0.26018	-1.0115	10	0.48119	T	0.1	.	6.053	0.19796	0.1801:0.1574:0.6625:0.0	.	176	O15218	GP182_HUMAN	C	176	ENSP00000300098:G176C	ENSP00000300098:G176C	G	+	1	0	GPR182	55675786	0.999000	0.42202	0.031000	0.17742	0.034000	0.12701	3.007000	0.49536	0.235000	0.21160	-0.217000	0.12591	GGC	GPR182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411212.1		+	ENST00000300098.1	Missense_Mutation	SNP	12 : 57389519 - 57389519 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	392	19
CECR2	27443	broad.mit.edu	37	22	18022006	18022006	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18022006C>T	ENST00000400585.2	+	16	2123	c.1685C>T	c.(1684-1686)gCt>gTt	p.A562V	CECR2_ENST00000400573.5_Missense_Mutation_p.A703V|CECR2_ENST00000262608.8_Missense_Mutation_p.A704V			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	745					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGCATGTATGCTCCAGCTCAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	26	25			NA	NA	22		NA											NA				18022006		1954	4148	6102	SO:0001583	missense			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954	27443	27443			1840	protein-coding gene	gene with protein product		607576			NA	11381032	Standard	NM_031413	XM_006724077	NA	Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1685C>T	22.37:g.18022006C>T	ENSP00000383428:p.Ala562Val	NA	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	37		.	.	.	.	.	.	.	.	.	.	C	10.07	1.249044	0.22880	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.26223	1.88;1.87;1.75	5.43	4.39	0.52855	.	0.517672	0.17787	N	0.162033	T	0.21267	0.0512	N	0.22421	0.69	0.09310	N	1	B;B;B	0.23937	0.094;0.094;0.094	B;B;B	0.23852	0.049;0.031;0.031	T	0.23368	-1.0190	10	0.72032	D	0.01	-0.7584	16.1858	0.81950	0.0:0.8667:0.1333:0.0	.	745;562;703	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	V	562;703;704	ENSP00000383428:A562V;ENSP00000383417:A703V;ENSP00000262608:A704V	ENSP00000262608:A704V	A	+	2	0	CECR2	16402006	0.194000	0.23325	0.026000	0.17262	0.040000	0.13550	3.616000	0.54174	1.487000	0.48415	0.655000	0.94253	GCT	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000316226.2		+	ENST00000400585.2	Missense_Mutation	SNP	22 : 18022006 - 18022006 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	121	23
KLHL22	84861	broad.mit.edu	37	22	20843290	20843290	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20843290G>A	ENST00000470335.1	-	0	326				KLHL22_ENST00000440659.2_5'UTR|KLHL22_ENST00000328879.4_Missense_Mutation_p.A70V			Q53GT1	KLH22_HUMAN	kelch-like family member 22	NA					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			ATCGCAGGACGCAGCCAGCAG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	45	49			NA	NA	22		NA											NA				20843290		2203	4300	6503	SO:0001623	5_prime_UTR_variant				CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910	84861	84861		Kelch-like, BTB/POZ domain containing	25888	protein-coding gene	gene with protein product			kelch-like 22 (Drosophila)		NA	12477932	Standard	NM_032775	NM_032775	NA	Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000470335.1:c.-498C>T	22.37:g.20843290G>A		NA	A8K3Q4|A8MTV3|D3DX30|Q96B68|Q96KC6	37		.	.	.	.	.	.	.	.	.	.	g	16.15	3.041455	0.55003	.	.	ENSG00000099910	ENST00000328879;ENST00000444967;ENST00000458248;ENST00000443285;ENST00000431430;ENST00000423364	T;T;T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75;-0.75;-0.75	5.14	5.14	0.70334	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.87845	0.6280	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89986	0.4104	10	0.87932	D	0	.	16.1034	0.81203	0.0:0.0:1.0:0.0	.	70	Q53GT1	KLH22_HUMAN	V	70;102;70;104;70;102	ENSP00000331682:A70V;ENSP00000403999:A102V;ENSP00000398616:A70V;ENSP00000397882:A104V;ENSP00000409092:A70V;ENSP00000402746:A102V	ENSP00000331682:A70V	A	-	2	0	KLHL22	19173290	1.000000	0.71417	0.636000	0.29352	0.029000	0.11900	9.123000	0.94387	2.406000	0.81754	0.550000	0.68814	GCG	KLHL22-005	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000320127.1		-	ENST00000470335.1	5'UTR	SNP	22 : 20843290 - 20843290 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	188	25
MKRN2	23609	broad.mit.edu	37	3	12616471	12616471	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12616471C>T	ENST00000411987.1	+	4	758	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	MKRN2_ENST00000170447.7_Missense_Mutation_p.R275W|MKRN2_ENST00000448482.1_Missense_Mutation_p.R273W			Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	275						intracellular	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						CCGGCAGTGGCGGTGTGCCAA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	76	80			NA	NA	3		NA											NA				12616471		2203	4300	6503	SO:0001583	missense				CCDS33702.1, CCDS63545.1	3p25	2008-08-13	2008-08-13		ENSG00000075975	ENSG00000075975	23609	23609		RING-type (C3HC4) zinc fingers	7113	protein-coding gene	gene with protein product		608426			NA	11597136	Standard	NM_014160	NM_014160	NA	Approved	RNF62, HSPC070	uc003bxd.4	Q9H000	OTTHUMG00000155371	ENST00000411987.1:c.694C>T	3.37:g.12616471C>T	ENSP00000396340:p.Arg232Trp	NA	A6NIA2|B3KRC5|Q8N391|Q96BD4|Q9BUY2|Q9NRY1	37		.	.	.	.	.	.	.	.	.	.	C	23.8	4.458241	0.84317	.	.	ENSG00000075975	ENST00000170447;ENST00000411987;ENST00000448482	T;T;T	0.67865	-0.29;0.97;-0.29	5.91	-3.06	0.05379	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.79317	0.4425	M	0.62016	1.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.81134	-0.1071	10	0.87932	D	0	-6.668	22.9923	0.99978	0.1948:0.8052:0.0:0.0	.	232;273;275	B4DPR4;C9J494;Q9H000	.;.;MKRN2_HUMAN	W	275;232;273	ENSP00000170447:R275W;ENSP00000396340:R232W;ENSP00000397983:R273W	ENSP00000170447:R275W	R	+	1	2	MKRN2	12591471	0.989000	0.36119	0.986000	0.45419	0.996000	0.88848	0.385000	0.20685	-0.390000	0.07774	0.655000	0.94253	CGG	MKRN2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000339680.1		+	ENST00000411987.1	Missense_Mutation	SNP	3 : 12616471 - 12616471 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	228	47
E2F4	1874	broad.mit.edu	37	16	67228615	67228615	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67228615G>T	ENST00000379378.3	+	6	599	c.540G>T	c.(538-540)caG>caT	p.Q180H	E2F4_ENST00000564718.1_3'UTR	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	180	Dimerization (Potential).				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		AGAAGTACCAGATTCACCTGA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	102	103			NA	NA	16		NA											NA				67228615		2198	4300	6498	SO:0001583	missense			BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250	1874	1874			3118	protein-coding gene	gene with protein product		600659			NA	7958924, 7892279	Standard	NM_001950	NM_001950	NA	Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975	ENST00000379378.3:c.540G>T	16.37:g.67228615G>T	ENSP00000368686:p.Gln180His	NA	A6NGR8|B5BU56|Q12991|Q15328	37	CCDS32464.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494055	0.44352	.	.	ENSG00000205250	ENST00000379378	D	0.87029	-2.2	5.72	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.93514	0.7930	M	0.85859	2.78	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	D	0.94264	0.7505	10	0.87932	D	0	-16.4072	13.4026	0.60891	0.0762:0.0:0.9238:0.0	.	180	Q16254	E2F4_HUMAN	H	180	ENSP00000368686:Q180H	ENSP00000368686:Q180H	Q	+	3	2	E2F4	65786116	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.547000	0.53663	1.424000	0.47217	0.655000	0.94253	CAG	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421565.1		+	ENST00000379378.3	Missense_Mutation	SNP	16 : 67228615 - 67228615 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	406	71
TAF1	6872	broad.mit.edu	37	X	70595105	70595105	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70595105G>T	ENST00000373790.4	+	4	552	c.501G>T	c.(499-501)aaG>aaT	p.K167N	TAF1_ENST00000423759.1_Missense_Mutation_p.K167N|TAF1_ENST00000449580.1_Missense_Mutation_p.K167N|TAF1_ENST00000276072.3_Missense_Mutation_p.K167N	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	167	Protein kinase 1.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GACCAATGAAGAAGGATAAGG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	99	105			NA	NA	X		NA											NA				70595105		2203	4300	6503	SO:0001583	missense				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133	6872	6872		Chromatin-modifying enzymes / K-acetyltransferases	11535	protein-coding gene	gene with protein product		313650	TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD, dystonia 3 (with Parkinsonism)	TAF2A, BA2R, CCG1, CCGS, DYT3	NA	3556424, 12928496, 17952504	Standard	NM_004606	XM_005262295	NA	Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.501G>T	X.37:g.70595105G>T	ENSP00000362895:p.Lys167Asn	NA	A5CVD0|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	37	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	13.67	2.307933	0.40895	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.09911	2.95;3.01;2.98;2.93	4.83	3.05	0.35203	.	0.052619	0.85682	D	0.000000	T	0.08537	0.0212	L	0.39633	1.23	0.40498	D	0.980611	B;B	0.26258	0.039;0.145	B;B	0.21708	0.016;0.036	T	0.26710	-1.0095	10	0.27785	T	0.31	.	8.1709	0.31254	0.4141:0.0:0.5859:0.0	.	167;167	P21675;P21675-2	TAF1_HUMAN;.	N	167	ENSP00000362895:K167N;ENSP00000389000:K167N;ENSP00000406549:K167N;ENSP00000276072:K167N	ENSP00000276072:K167N	K	+	3	2	TAF1	70511830	1.000000	0.71417	0.993000	0.49108	0.941000	0.58515	2.794000	0.47853	0.406000	0.25560	0.429000	0.28392	AAG	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058995.2		+	ENST00000373790.4	Missense_Mutation	SNP	X : 70595105 - 70595105 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	262	61
CREBRF	153222	broad.mit.edu	37	5	172539317	172539317	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:172539317G>A	ENST00000296953.2	+	7	1935	c.1616G>A	c.(1615-1617)cGg>cAg	p.R539Q	CREBRF_ENST00000540014.1_Missense_Mutation_p.R541Q	NM_153607.2	NP_705835.2	Q8IUR6	CE041_HUMAN	CREB3 regulatory factor	539							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				NA						AGAGCTTGTCGGTTAAAGAAG	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	79	78			NA	NA	5		NA											NA				172539317		2203	4300	6503	SO:0001583	missense			AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463	153222	153222			24050	protein-coding gene	gene with protein product	luman/CREB3 recruitment factor		chromosome 5 open reading frame 41	C5orf41	NA	18391022	Standard	NM_153607	NM_153607	NA	Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.1616G>A	5.37:g.172539317G>A	ENSP00000296953:p.Arg539Gln	NA	B3KW49|D3DQM2|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	37	CCDS34293.1	.	.	.	.	.	.	.	.	.	.	G	35	5.552376	0.96501	.	.	ENSG00000164463	ENST00000296953;ENST00000540014;ENST00000538538;ENST00000393776	T;T	0.22336	1.96;1.96	5.67	5.67	0.87782	Basic-leucine zipper (bZIP) transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.46964	0.1420	M	0.69358	2.11	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	T	0.18681	-1.0329	10	0.40728	T	0.16	.	19.7476	0.96257	0.0:0.0:1.0:0.0	.	539	Q8IUR6	CE041_HUMAN	Q	539;541;539;539	ENSP00000296953:R539Q;ENSP00000440075:R541Q	ENSP00000296953:R539Q	R	+	2	0	C5orf41	172471923	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.360000	0.97119	2.678000	0.91216	0.591000	0.81541	CGG	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372667.1		+	ENST00000296953.2	Missense_Mutation	SNP	5 : 172539317 - 172539317 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	418	68
SLIT1	6585	broad.mit.edu	37	10	98816148	98816148	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98816148A>G	ENST00000266058.4	-	13	1476	c.1231T>C	c.(1231-1233)Tcc>Ccc	p.S411P	SLIT1_ENST00000371070.4_Missense_Mutation_p.S411P|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	411					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCATACAGGGAGAGCAGTGAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	166	167			NA	NA	10		NA											NA				98816148		2203	4300	6503	SO:0001583	missense			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122	6585	6585			11085	protein-coding gene	gene with protein product		603742	slit (Drosophila) homolog 1	SLIL1	NA	9693030, 9813312	Standard	NM_003061	NM_003061	NA	Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.1231T>C	10.37:g.98816148A>G	ENSP00000266058:p.Ser411Pro	NA	Q8WWZ2|Q9UIL7	37	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	a	28.3	4.904775	0.92035	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371070;ENST00000314867	T;T;T	0.54279	1.76;1.76;0.58	5.09	5.09	0.68999	.	0.057785	0.64402	D	0.000001	T	0.76615	0.4012	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.82024	-0.0662	10	0.87932	D	0	.	15.0201	0.71624	1.0:0.0:0.0:0.0	.	421;411	E7EWQ8;O75093	.;SLIT1_HUMAN	P	411;421;411;404	ENSP00000266058:S411P;ENSP00000360109:S411P;ENSP00000315005:S404P	ENSP00000266058:S411P	S	-	1	0	SLIT1	98806138	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.080000	0.94040	2.129000	0.65627	0.454000	0.30748	TCC	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049636.1		-	ENST00000266058.4	Missense_Mutation	SNP	10 : 98816148 - 98816148 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	899	147
ADAT2	134637	broad.mit.edu	37	6	143753712	143753712	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143753712C>T	ENST00000606514.1	-	4	832	c.248G>A	c.(247-249)cGa>cAa	p.R83Q	ADAT2_ENST00000237283.8_Missense_Mutation_p.R130Q			Q7Z6V5	ADAT2_HUMAN	adenosine deaminase, tRNA-specific 2	130					tRNA processing		hydrolase activity|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)	8				OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115)		ACCACCAAATCGTTCATTCTG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	135	140			NA	NA	6		NA											NA				143753712		1921	4135	6056	SO:0001583	missense			BC037955	CCDS43511.1, CCDS69219.1	6q24.2	2014-01-28	2011-05-19	2007-08-16	ENSG00000189007	ENSG00000189007	134637	134637			21172	protein-coding gene	gene with protein product	tRNA-specific adenosine deaminase 2 homolog (S. cerevisiae)	615388	deaminase domain containing 1, adenosine deaminase, tRNA-specific 2, TAD2 homolog (S. cerevisiae)	DEADC1	NA	12457566	Standard	XM_059727	NM_182503	NA	Approved	dJ20N2.1, TAD2	uc003qjj.3	Q7Z6V5	OTTHUMG00000015725	ENST00000606514.1:c.248G>A	6.37:g.143753712C>T	ENSP00000475651:p.Arg83Gln	NA	A6NL12|B3KWY3|Q7Z327|Q8IY39	37		.	.	.	.	.	.	.	.	.	.	C	36	5.718738	0.96839	.	.	ENSG00000189007	ENST00000367594;ENST00000237283	.	.	.	5.5	5.5	0.81552	Cytidine deaminase-like (1);	0.119263	0.56097	D	0.000022	D	0.85557	0.5724	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.88504	0.3084	9	0.87932	D	0	-6.0983	19.7578	0.96301	0.0:1.0:0.0:0.0	.	130	Q7Z6V5	ADAT2_HUMAN	Q	83;130	.	ENSP00000237283:R130Q	R	-	2	0	ADAT2	143795405	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.079000	0.76829	2.746000	0.94184	0.591000	0.81541	CGA	ADAT2-003	PUTATIVE	non_canonical_conserved|basic	protein_coding	NA	protein_coding	OTTHUMT00000471399.1		-	ENST00000606514.1	Missense_Mutation	SNP	6 : 143753712 - 143753712 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	484	80
FCRL3	115352	broad.mit.edu	37	1	157667073	157667073	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157667073G>A	ENST00000368184.3	-	6	992	c.701C>T	c.(700-702)aCc>aTc	p.T234I	FCRL3_ENST00000368186.5_Missense_Mutation_p.T234I|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	234	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CAATCCGAGGGTCTGGCTATC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	92	92			NA	NA	1		NA											NA				157667073		2203	4300	6503	SO:0001583	missense			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856	115352	115352		CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	18506	protein-coding gene	gene with protein product		606510			NA	11493702, 12014205	Standard	NM_052939	XR_241065	NA	Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.701C>T	1.37:g.157667073G>A	ENSP00000357167:p.Thr234Ile	NA	A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	37	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	G	5.341	0.248244	0.10130	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.12255	2.7;2.7	5.54	-1.18	0.09617	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	4.119430	0.00597	N	0.000368	T	0.02342	0.0072	L	0.38733	1.17	0.09310	N	1	B;B	0.28713	0.057;0.22	B;B	0.29663	0.105;0.092	T	0.28618	-1.0038	10	0.10111	T	0.7	.	1.2899	0.02058	0.3018:0.2438:0.3299:0.1245	.	234;234	Q96P31;Q96P31-6	FCRL3_HUMAN;.	I	234	ENSP00000357169:T234I;ENSP00000357167:T234I	ENSP00000292392:T234I	T	-	2	0	FCRL3	155933697	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-1.179000	0.03090	-0.205000	0.10219	0.491000	0.48974	ACC	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051419.2		-	ENST00000368184.3	Missense_Mutation	SNP	1 : 157667073 - 157667073 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	587	139
F2	2147	broad.mit.edu	37	11	46744800	46744800	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46744800C>T	ENST00000311907.5	+	5	443	c.387C>T	c.(385-387)tgC>tgT	p.C129C	F2_ENST00000530231.1_Silent_p.C129C	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	129	Kringle 1.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GCATTGAGTGCCAGCTATGGA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(147;1147 1808 2148 38609 51144)							NA				0													122	115	118			NA	NA	11		NA											NA				46744800		2201	4299	6500	SO:0001819	synonymous_variant			M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	2147	2147	3.4.21.5	Endogenous ligands	3535	protein-coding gene	gene with protein product	prepro-coagulation factor II	176930			NA		Standard		NM_000506	NA	Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.387C>T	11.37:g.46744800C>T		NA	B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q7Z7P3|Q9UCA1	37	CCDS31476.1																																																																																			F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317706.1		+	ENST00000311907.5	Silent	SNP	11 : 46744800 - 46744800 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	874	38
KCNA10	3744	broad.mit.edu	37	1	111060647	111060647	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111060647G>T	ENST00000369771.2	-	1	1150	c.763C>A	c.(763-765)Ctc>Atc	p.L255I		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	255						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		CTCATGTTGAGATTGGGGTCT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													201	157	172			NA	NA	1		NA											NA				111060647		2203	4300	6503	SO:0001583	missense			U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105	3744	3744		Potassium channels, Voltage-gated ion channels / Potassium channels	6219	protein-coding gene	gene with protein product		602420			NA	16382104	Standard	NM_005549	NM_005549	NA	Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.763C>A	1.37:g.111060647G>T	ENSP00000358786:p.Leu255Ile	NA		37	CCDS826.1	.	.	.	.	.	.	.	.	.	.	G	0.176	-1.067166	0.01934	.	.	ENSG00000143105	ENST00000369771	D	0.96856	-4.15	5.8	1.72	0.24424	.	.	.	.	.	D	0.83626	0.5295	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.74503	-0.3644	9	0.34782	T	0.22	.	5.0872	0.14689	0.0704:0.1144:0.3314:0.4838	.	255	Q16322	KCA10_HUMAN	I	255	ENSP00000358786:L255I	ENSP00000358786:L255I	L	-	1	0	KCNA10	110862170	0.026000	0.19158	0.178000	0.23040	0.216000	0.24613	0.509000	0.22707	0.064000	0.16427	-0.152000	0.13540	CTC	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059081.1		-	ENST00000369771.2	Missense_Mutation	SNP	1 : 111060647 - 111060647 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	519	56
DDX10	1662	broad.mit.edu	37	11	108586668	108586668	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108586668A>C	ENST00000526794.1	+	11	1417	c.1385A>C	c.(1384-1386)cAa>cCa	p.Q462P	DDX10_ENST00000322536.3_Missense_Mutation_p.Q462P			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	462							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		GCTCAAGATCAAGATTTAAAA	0.289		NA	T	NUP98	AML*									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		11	11q22-q23	1662	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10		L	0													31	32	32			NA	NA	11		NA											NA				108586668		2199	4291	6490	SO:0001583	missense			U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105	1662	1662		DEAD-boxes	2735	protein-coding gene	gene with protein product		601235	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)		NA	8660968	Standard	NM_004398	NM_004398	NA	Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000526794.1:c.1385A>C	11.37:g.108586668A>C	ENSP00000432032:p.Gln462Pro	NA	B2RCQ3|Q5BJD8	37		.	.	.	.	.	.	.	.	.	.	A	11.91	1.779047	0.31502	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	T;T	0.38887	1.12;1.11	6.04	2.42	0.29668	.	0.215941	0.48767	D	0.000166	T	0.17662	0.0424	N	0.03071	-0.42	0.44539	D	0.997495	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.04961	-1.0915	10	0.23891	T	0.37	-2.9721	9.8661	0.41145	0.8031:0.0:0.1969:0.0	.	462;462	Q13206;E9PIF2	DDX10_HUMAN;.	P	462;368;462	ENSP00000314348:Q462P;ENSP00000432032:Q462P	ENSP00000314348:Q462P	Q	+	2	0	DDX10	108091878	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	3.048000	0.49862	0.162000	0.19483	0.528000	0.53228	CAA	DDX10-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000390346.1		+	ENST00000526794.1	Missense_Mutation	SNP	11 : 108586668 - 108586668 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	107	21
ITFG3	83986	broad.mit.edu	37	16	309975	309975	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:309975C>A	ENST00000399932.3	+	5	844	c.393C>A	c.(391-393)tcC>tcA	p.S131S	ITFG3_ENST00000301678.3_Silent_p.S131S|ITFG3_ENST00000301679.2_Silent_p.S131S|ITFG3_ENST00000600536.1_Silent_p.S131S|ITFG3_ENST00000442458.2_Silent_p.S131S|ITFG3_ENST00000450082.2_Silent_p.S131S	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	131						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				CAGGCTTTTCCTCTCCCTGCA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	54	54			NA	NA	16		NA											NA				309975		2019	4159	6178	SO:0001819	synonymous_variant			AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930	83986	83986			14163	protein-coding gene	gene with protein product			chromosome 16 open reading frame 9	C16orf9	NA		Standard	NM_032039	XM_005255622	NA	Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.393C>A	16.37:g.309975C>A		NA	D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	37	CCDS10402.1	.	.	.	.	.	.	.	.	.	.	C	0.149	-1.093049	0.01858	.	.	ENSG00000167930	ENST00000421000	.	.	.	4.38	1.3	0.21679	.	.	.	.	.	T	0.24122	0.0584	.	.	.	0.24654	N	0.993503	.	.	.	.	.	.	T	0.21724	-1.0237	4	.	.	.	-4.4893	3.7011	0.08383	0.0:0.4522:0.1843:0.3635	.	.	.	.	H	60	.	.	P	+	2	0	ITFG3	249976	0.001000	0.12720	0.091000	0.20842	0.034000	0.12701	-0.327000	0.07955	0.579000	0.29504	0.655000	0.94253	CCT	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000134227.2		+	ENST00000399932.3	Silent	SNP	16 : 309975 - 309975 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	260	55
ACADSB	36	broad.mit.edu	37	10	124800885	124800885	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124800885A>G	ENST00000368869.4	+	4	617	c.365A>G	c.(364-366)gAc>gGc	p.D122G	ACADSB_ENST00000358776.4_Missense_Mutation_p.D224G|ACADSB_ENST00000496730.2_3'UTR			P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	224					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	GCAAATGTAGACCCTACCATT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	119	120			NA	NA	10		NA											NA				124800885		2203	4300	6503	SO:0001583	missense			U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	36	36	1.3.99.-		91	protein-coding gene	gene with protein product		600301	acyl-Coenzyme A dehydrogenase, short/branched chain		NA	7698750, 7759115	Standard	NM_001609	NM_001609	NA	Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000368869.4:c.365A>G	10.37:g.124800885A>G	ENSP00000357862:p.Asp122Gly	NA	Q96CX7	37		.	.	.	.	.	.	.	.	.	.	A	35	5.564262	0.96527	.	.	ENSG00000196177	ENST00000368869;ENST00000358776	D;D	0.99051	-5.37;-5.37	6.01	6.01	0.97437	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);	0.203474	0.51477	D	0.000095	D	0.98349	0.9452	L	0.49256	1.55	0.47547	D	0.999456	P	0.35363	0.497	P	0.44673	0.457	D	0.99346	1.0913	10	0.66056	D	0.02	.	16.5285	0.84344	1.0:0.0:0.0:0.0	.	224	P45954	ACDSB_HUMAN	G	122;224	ENSP00000357862:D122G;ENSP00000357873:D224G	ENSP00000357873:D224G	D	+	2	0	ACADSB	124790875	1.000000	0.71417	0.451000	0.26982	0.662000	0.39071	8.954000	0.93051	2.307000	0.77673	0.528000	0.53228	GAC	ACADSB-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000402204.1		+	ENST00000368869.4	Missense_Mutation	SNP	10 : 124800885 - 124800885 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	587	40
ZNF3	7551	broad.mit.edu	37	7	99669691	99669691	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99669691G>A	ENST00000424697.1	-	6	722	c.416C>T	c.(415-417)cCg>cTg	p.P139L	ZNF3_ENST00000303915.6_Missense_Mutation_p.P139L|ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000299667.4_Missense_Mutation_p.P139L	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	139					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			GTTCCCCAGCGGCCTTTTCAG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,LEU/PRO	0,3662		0,0,1831	108	102	104		,416	3.4	1	7		104	4,8158		0,4,4077	yes	intron,missense	ZNF3	NM_017715.2,NM_032924.3	,98	0,4,5908	AA,AG,GG	NA	0.049,0.0,0.0338	,benign	,139/447	99669691	4,11820	1831	4081	5912	SO:0001583	missense			AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05				7551	7551		Zinc fingers, C2H2-type, -	13089	protein-coding gene	gene with protein product		194510	zinc finger protein 3 (A8-51)		NA		Standard	NM_017715	NM_032924	NA	Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.416C>T	7.37:g.99669691G>A	ENSP00000415358:p.Pro139Leu	NA	D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	37	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	G	0.250	-1.007373	0.02112	0.0	4.9E-4	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667;ENST00000412947;ENST00000449785;ENST00000428683	T;T;T;T;T;T	0.06218	3.33;3.33;3.33;5.18;5.32;5.32	4.58	3.43	0.39272	.	0.418084	0.20469	N	0.091721	T	0.03564	0.0102	N	0.08118	0	0.09310	N	1	B;B	0.17465	0.022;0.006	B;B	0.09377	0.004;0.001	T	0.40590	-0.9555	10	0.38643	T	0.18	-8.6936	9.6919	0.40134	0.0:0.0:0.1853:0.8147	.	122;139	B3KRP4;P17036	.;ZNF3_HUMAN	L	139;139;139;103;139;139	ENSP00000415358:P139L;ENSP00000306372:P139L;ENSP00000299667:P139L;ENSP00000416088:P103L;ENSP00000405970:P139L;ENSP00000388042:P139L	ENSP00000299667:P139L	P	-	2	0	ZNF3	99507627	0.000000	0.05858	0.969000	0.41365	0.192000	0.23643	0.767000	0.26575	0.911000	0.36747	-0.500000	0.04577	CCG	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336247.3		-	ENST00000424697.1	Missense_Mutation	SNP	7 : 99669691 - 99669691 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	652	113
NEUROD1	4760	broad.mit.edu	37	2	182543157	182543157	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182543157C>T	ENST00000295108.3	-	2	888	c.431G>A	c.(430-432)cGc>cAc	p.R144H	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	144	Helix-loop-helix motif.				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	p.R144L(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CTTGGCCAAGCGCAGAGTCTC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											77	75	76			NA	NA	2		NA											NA				182543157		2203	4300	6503	SO:0001583	missense			U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992	4760	4760		Basic helix-loop-helix proteins	7762	protein-coding gene	gene with protein product	beta-cell E-box transactivator 2, neurogenic helix-loop-helix protein NEUROD	601724	neurogenic differentiation 1	NEUROD	NA	7754368, 8786144	Standard	NM_002500	NM_002500	NA	Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.431G>A	2.37:g.182543157C>T	ENSP00000295108:p.Arg144His	NA	B2R9I8|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	37	CCDS2283.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133671	0.77662	.	.	ENSG00000162992	ENST00000295108	D	0.98249	-4.82	6.16	6.16	0.99307	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99115	0.9695	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99647	1.0990	10	0.87932	D	0	-7.4311	19.4236	0.94732	0.0:1.0:0.0:0.0	.	144	Q13562	NDF1_HUMAN	H	144	ENSP00000295108:R144H	ENSP00000295108:R144H	R	-	2	0	NEUROD1	182251402	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	CGC	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255792.2		-	ENST00000295108.3	Missense_Mutation	SNP	2 : 182543157 - 182543157 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	521	52
HOXA13	3209	broad.mit.edu	37	7	27239044	27239044	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27239044G>A	ENST00000222753.4	-	1	681	c.653C>T	c.(652-654)gCc>gTc	p.A218V	HOTTIP_ENST00000421733.1_RNA	NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13	218					skeletal system development	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						GAACTCCTCGGCAGCTGGGCC	0.692		NA	T	NUP98	AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		7	7p15-p14.2	3209	homeo box A13		L	0													33	35	34			NA	NA	7		NA											NA				27239044		2203	4299	6502	SO:0001583	missense				CCDS5412.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106031	ENSG00000106031	3209	3209		Homeoboxes / ANTP class : HOXL subclass	5102	protein-coding gene	gene with protein product		142959	homeo box A13	HOX1J, HOX1	NA	1973146, 1358459	Standard		NM_000522	NA	Approved		uc003szb.1	P31271	OTTHUMG00000023438	ENST00000222753.4:c.653C>T	7.37:g.27239044G>A	ENSP00000222753:p.Ala218Val	NA	A4D188|O43371	37	CCDS5412.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698676	0.88830	.	.	ENSG00000106031	ENST00000222753	T	0.45276	0.9	4.11	3.19	0.36642	.	0.115129	0.56097	D	0.000034	T	0.40094	0.1103	L	0.33245	0.995	0.30730	N	0.747292	P	0.42961	0.795	P	0.50270	0.636	T	0.43605	-0.9381	10	0.87932	D	0	.	7.8364	0.29371	0.0:0.3133:0.5316:0.1551	.	218	P31271	HXA13_HUMAN	V	218	ENSP00000222753:A218V	ENSP00000222753:A218V	A	-	2	0	HOXA13	27205569	0.995000	0.38212	1.000000	0.80357	0.957000	0.61999	2.709000	0.47160	0.794000	0.33899	0.456000	0.33151	GCC	HOXA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358752.3		-	ENST00000222753.4	Missense_Mutation	SNP	7 : 27239044 - 27239044 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	68
PCDHGA2	56113	broad.mit.edu	37	5	140720625	140720625	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140720625C>T	ENST00000394576.2	+	1	2087	c.2087C>T	c.(2086-2088)gCg>gTg	p.A696V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1			protocadherin gamma subfamily A, 2	NA										breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGGTGGCGGTGGCCGCG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	105	102			NA	NA	5		NA											NA				140720625		2203	4296	6499	SO:0001583	missense			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853	56113	56113		Cadherins / Protocadherins : Clustered	8700	other	protocadherin		606289			NA	10380929	Standard	NM_018915	NM_018915	NA	Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2087C>T	5.37:g.140720625C>T	ENSP00000378077:p.Ala696Val	NA		37	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	21.1	4.101865	0.76983	.	.	ENSG00000081853	ENST00000394576	T	0.25250	1.81	5.05	5.05	0.67936	.	0.000000	0.41097	U	0.000960	T	0.64148	0.2572	H	0.96943	3.91	0.35538	D	0.802815	D;D	0.89917	0.997;1.0	D;D	0.65140	0.927;0.932	T	0.82424	-0.0464	10	0.87932	D	0	.	16.6115	0.84884	0.0:1.0:0.0:0.0	.	696;696	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	V	696	ENSP00000378077:A696V	ENSP00000378077:A696V	A	+	2	0	PCDHGA2	140700809	0.998000	0.40836	0.952000	0.39060	0.008000	0.06430	4.415000	0.59809	2.532000	0.85374	0.485000	0.47835	GCG	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374738.1		+	ENST00000394576.2	Missense_Mutation	SNP	5 : 140720625 - 140720625 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1090	30
TTC30A	92104	broad.mit.edu	37	2	178483364	178483364	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178483364G>T	ENST00000355689.5	-	1	330	c.66C>A	c.(64-66)atC>atA	p.I22I		NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	NA					cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			GGGCATCGCGGATGAGCCGGT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	13	13			NA	NA	2		NA											NA				178483364		2134	4240	6374	SO:0001819	synonymous_variant			AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557	92104	92104		Tetratricopeptide (TTC) repeat domain containing	25853	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152275	NM_152275	NA	Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.66C>A	2.37:g.178483364G>T		NA	A8K8N0|Q8IVP2	37	CCDS2276.1																																																																																			TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255728.2		-	ENST00000355689.5	Silent	SNP	2 : 178483364 - 178483364 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	98	12
FREM2	341640	broad.mit.edu	37	13	39357242	39357242	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39357242G>A	ENST00000280481.7	+	5	5893	c.5677G>A	c.(5677-5679)Gtt>Att	p.V1893I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1893	Calx-beta 2.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V1893I(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CAAATACTCCGTTGAAGAAGA	0.438		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)											205	195	198			NA	NA	13		NA											NA				39357242		2203	4300	6503	SO:0001583	missense			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893	341640	341640			25396	protein-coding gene	gene with protein product		608945			NA	15345741	Standard	NM_207361	NM_207361	NA	Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.5677G>A	13.37:g.39357242G>A	ENSP00000280481:p.Val1893Ile	NA	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	A	5.292	0.239314	0.10023	.	.	ENSG00000150893	ENST00000280481	T	0.36699	1.24	5.98	-3.55	0.04639	Na-Ca exchanger/integrin-beta4 (2);	0.362015	0.30920	N	0.008612	T	0.18676	0.0448	N	0.21373	0.66	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.32455	-0.9906	10	0.06757	T	0.87	.	14.9111	0.70758	0.439:0.0:0.561:0.0	.	1893	Q5SZK8	FREM2_HUMAN	I	1893	ENSP00000280481:V1893I	ENSP00000280481:V1893I	V	+	1	0	FREM2	38255242	0.001000	0.12720	0.068000	0.19968	0.823000	0.46562	0.130000	0.15850	-0.977000	0.03537	-0.439000	0.05793	GTT	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044599.2		+	ENST00000280481.7	Missense_Mutation	SNP	13 : 39357242 - 39357242 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	766	158
PRKCB	5579	broad.mit.edu	37	16	24226007	24226007	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24226007G>A	ENST00000303531.7	+	17	2044	c.1892G>A	c.(1891-1893)cGa>cAa	p.R631Q	PRKCB_ENST00000321728.7_Intron	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	632	AGC-kinase C-terminal.				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)	AACTTCGACCGATTTTTCACC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	73	75			NA	NA	16		NA											NA				24226007		2197	4300	6497	SO:0001583	missense			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	ENST00000303531.7:c.1892G>A	16.37:g.24226007G>A	ENSP00000305355:p.Arg631Gln	NA	C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	37	CCDS10619.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.374108	0.42105	.	.	ENSG00000166501	ENST00000303531	T	0.57107	0.42	5.96	5.01	0.66863	.	0.427505	0.21230	N	0.077981	T	0.34890	0.0913	.	.	.	0.47308	D	0.999382	B	0.22746	0.074	B	0.16722	0.016	T	0.12604	-1.0541	9	0.13853	T	0.58	.	10.1985	0.43069	0.1518:0.0:0.8482:0.0	.	631	P05771-2	.	Q	631	ENSP00000305355:R631Q	ENSP00000305355:R631Q	R	+	2	0	PRKCB	24133508	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	5.521000	0.67086	1.536000	0.49237	0.655000	0.94253	CGA	PRKCB-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254505.1		+	ENST00000303531.7	Missense_Mutation	SNP	16 : 24226007 - 24226007 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	327	12
HR	55806	broad.mit.edu	37	8	21982977	21982977	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21982977C>A	ENST00000381418.4	-	5	3077	c.1597G>T	c.(1597-1599)Gcc>Tcc	p.A533S	HR_ENST00000312841.8_Missense_Mutation_p.A533S	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	533							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GAGTTGGTGGCTGTGTCTTCC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	43	42			NA	NA	8		NA											NA				21982977		2203	4300	6503	SO:0001583	missense			AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453	55806	55806			5172	protein-coding gene	gene with protein product		602302	hairless (mouse) homolog, hairless homolog (mouse)	ALUNC	NA	10051399, 9463324	Standard		NM_018411	NA	Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.1597G>T	8.37:g.21982977C>A	ENSP00000370826:p.Ala533Ser	NA	Q6GS30|Q96H33|Q9NPE1	37	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.372195	0.24857	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.71341	-0.55;-0.56	4.77	1.71	0.24356	.	1.715950	0.03661	N	0.242548	T	0.56171	0.1967	L	0.31294	0.92	0.09310	N	1	B;B	0.16603	0.018;0.006	B;B	0.14578	0.011;0.005	T	0.32348	-0.9910	10	0.07990	T	0.79	0.1831	6.766	0.23566	0.339:0.4494:0.2116:0.0	.	533;533	O43593-2;O43593	.;HAIR_HUMAN	S	533	ENSP00000370826:A533S;ENSP00000326765:A533S	ENSP00000326765:A533S	A	-	1	0	HR	22038922	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	-0.368000	0.07543	0.087000	0.17167	0.462000	0.41574	GCC	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214213.1		-	ENST00000381418.4	Missense_Mutation	SNP	8 : 21982977 - 21982977 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	174	28
ZBTB4	57659	broad.mit.edu	37	17	7366455	7366455	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7366455G>A	ENST00000311403.4	-	4	2185	c.1846C>T	c.(1846-1848)Cgc>Tgc	p.R616C	ZBTB4_ENST00000380599.4_Missense_Mutation_p.R616C	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	616	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GAGATGCGGCGCTTGACGATG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	31	36			NA	NA	17		NA											NA				7366455		2201	4300	6501	SO:0001583	missense			AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282	57659	57659		-, BTB/POZ domain containing, Zinc fingers, C2H2-type	23847	protein-coding gene	gene with protein product		612308			NA	12477932	Standard	NM_020899	NM_020899	NA	Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.1846C>T	17.37:g.7366455G>A	ENSP00000307858:p.Arg616Cys	NA	B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	37	CCDS11107.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338633	0.60963	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	T;T	0.51817	0.69;0.69	4.87	3.86	0.44501	.	0.000000	0.64402	D	0.000001	T	0.64907	0.2641	M	0.69358	2.11	0.48511	D	0.999669	D	0.89917	1.0	D	0.85130	0.997	T	0.66779	-0.5837	10	0.54805	T	0.06	-14.8235	13.619	0.62126	0.0:0.0:0.8449:0.1551	.	616	Q9P1Z0	ZBTB4_HUMAN	C	616	ENSP00000307858:R616C;ENSP00000369973:R616C	ENSP00000307858:R616C	R	-	1	0	ZBTB4	7307179	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.648000	0.37271	2.533000	0.85409	0.462000	0.41574	CGC	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226940.2		-	ENST00000311403.4	Missense_Mutation	SNP	17 : 7366455 - 7366455 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	103	17
CCNA2	890	broad.mit.edu	37	4	122743722	122743722	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122743722G>A	ENST00000274026.5	-	2	596	c.293C>T	c.(292-294)gCg>gTg	p.A98V		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	98					cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						AATGGTGAACGCAGGCTGTTT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	113	114			NA	NA	4		NA											NA				122743722		2203	4300	6503	SO:0001583	missense				CCDS3723.1	4q27	2012-07-12			ENSG00000145386	ENSG00000145386	890	890			1578	protein-coding gene	gene with protein product		123835		CCNA, CCN1	NA	1675006	Standard	NM_001237	NM_001237	NA	Approved		uc003iec.4	P20248	OTTHUMG00000133072	ENST00000274026.5:c.293C>T	4.37:g.122743722G>A	ENSP00000274026:p.Ala98Val	NA	A8K7B6|Q2M3U6|Q4W5P4|Q6LER8	37	CCDS3723.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.819230	0.71028	.	.	ENSG00000145386	ENST00000274026	T	0.16743	2.32	5.74	5.74	0.90152	.	0.254375	0.15847	U	0.241726	T	0.18425	0.0442	L	0.49350	1.555	0.37440	D	0.914368	B	0.31752	0.338	B	0.19666	0.026	T	0.09707	-1.0662	10	0.27785	T	0.31	.	18.7072	0.91643	0.0:0.0:1.0:0.0	.	98	P20248	CCNA2_HUMAN	V	98	ENSP00000274026:A98V	ENSP00000274026:A98V	A	-	2	0	CCNA2	122963172	0.998000	0.40836	0.998000	0.56505	0.995000	0.86356	4.921000	0.63397	2.715000	0.92844	0.655000	0.94253	GCG	CCNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256712.2		-	ENST00000274026.5	Missense_Mutation	SNP	4 : 122743722 - 122743722 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	472	114
GNAI2	2771	broad.mit.edu	37	3	50290492	50290492	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50290492G>A	ENST00000313601.6	+	4	724	c.340G>A	c.(340-342)Gcc>Acc	p.A114T	GNAI2_ENST00000440628.1_Missense_Mutation_p.A62T|GNAI2_ENST00000266027.5_Missense_Mutation_p.A98T|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000451956.1_Missense_Mutation_p.A77T|GNAI2_ENST00000422163.1_Missense_Mutation_p.A98T|GNAI2_ENST00000536647.1_Missense_Mutation_p.A33T	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	114					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.A114T(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		GTCCTGCACCGCCGAGGAGCA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	ovary(1)|prostate(1)						G	THR/ALA,THR/ALA	0,4406		0,0,2203	121	110	113		229,340	5.3	0.8	3		113	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GNAI2	NM_001166425.1,NM_002070.2	58,58	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign,benign	77/319,114/356	50290492	1,13005	2203	4300	6503	SO:0001583	missense			X04828	CCDS2813.1, CCDS54587.1, CCDS63642.1, CCDS63644.1	3p21.31	2010-08-27			ENSG00000114353	ENSG00000114353	2771	2771			4385	protein-coding gene	gene with protein product	GTP-binding regulatory protein Gi alpha-2 chain	139360		GNAI2B	NA	3100330, 1733849	Standard	NM_002070	NM_001166425	NA	Approved	GIP	uc003cyq.1	P04899	OTTHUMG00000156940	ENST00000313601.6:c.340G>A	3.37:g.50290492G>A	ENSP00000312999:p.Ala114Thr	NA	Q8IZ71	37	CCDS2813.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180559	0.78677	0.0	1.16E-4	ENSG00000114353	ENST00000422163;ENST00000313601;ENST00000536647;ENST00000540560;ENST00000440628;ENST00000451956;ENST00000266027	D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32	5.34	5.34	0.76211	G protein alpha subunit, helical insertion (2);	0.049801	0.85682	D	0.000000	T	0.81758	0.4890	L	0.31926	0.97	0.80722	D	1	B;B;B;B	0.10296	0.002;0.002;0.003;0.002	B;B;B;B	0.08055	0.002;0.002;0.003;0.002	T	0.74884	-0.3512	10	0.29301	T	0.29	.	17.3557	0.87335	0.0:0.0:1.0:0.0	.	77;114;98;98	B4DYA0;P04899;B3KTZ0;P04899-2	.;GNAI2_HUMAN;.;.	T	98;114;33;114;62;77;98	ENSP00000406871:A98T;ENSP00000312999:A114T;ENSP00000444360:A33T;ENSP00000395736:A62T;ENSP00000406369:A77T;ENSP00000266027:A98T	ENSP00000266027:A98T	A	+	1	0	GNAI2	50265496	1.000000	0.71417	0.768000	0.31515	0.949000	0.60115	6.693000	0.74582	2.884000	0.98904	0.655000	0.94253	GCC	GNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346688.1		+	ENST00000313601.6	Missense_Mutation	SNP	3 : 50290492 - 50290492 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	978	148
SMAD7	4092	broad.mit.edu	37	18	46448083	46448083	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:46448083G>A	ENST00000262158.2	-	4	1226	c.940C>T	c.(940-942)Cgg>Tgg	p.R314W	SMAD7_ENST00000589634.1_Missense_Mutation_p.R313W|SMAD7_ENST00000591805.1_Missense_Mutation_p.R99W|SMAD7_ENST00000585986.1_5'UTR	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	314	MH2.				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					ATTTTGCTCCGCACCTTCTGC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	59	65			NA	NA	18		NA											NA				46448083		2203	4300	6503	SO:0001583	missense			AF010193	CCDS11936.1, CCDS54186.1, CCDS59317.1	18q21.1	2006-11-06	2006-11-06	2004-05-26	ENSG00000101665	ENSG00000101665	4092	4092		SMADs	6773	protein-coding gene	gene with protein product		602932	MAD, mothers against decapentaplegic homolog 7 (Drosophila), SMAD, mothers against DPP homolog 7 (Drosophila)	MADH8, MADH7	NA	9256479, 9730599	Standard	NM_005904	NM_005904	NA	Approved		uc002ldg.3	O15105	OTTHUMG00000132655	ENST00000262158.2:c.940C>T	18.37:g.46448083G>A	ENSP00000262158:p.Arg314Trp	NA	O14740|Q6DK23	37	CCDS11936.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796564	0.70567	.	.	ENSG00000101665	ENST00000545051;ENST00000262158	D	0.99698	-6.44	5.66	4.78	0.61160	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99708	0.9888	M	0.87328	2.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97312	0.9938	10	0.87932	D	0	.	16.1773	0.81862	0.0:0.0:0.866:0.134	.	314;126	O15105;B3KYA8	SMAD7_HUMAN;.	W	99;314	ENSP00000262158:R314W	ENSP00000262158:R314W	R	-	1	2	SMAD7	44702081	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	6.740000	0.74832	1.359000	0.45940	0.591000	0.81541	CGG	SMAD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255906.1		-	ENST00000262158.2	Missense_Mutation	SNP	18 : 46448083 - 46448083 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	273	48
MGA	23269	broad.mit.edu	37	15	42042630	42042630	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42042630G>A	ENST00000570161.1	+	16	6825	c.6825G>A	c.(6823-6825)ctG>ctA	p.L2275L	MGA_ENST00000566586.1_Silent_p.L2066L|MGA_ENST00000219905.7_Silent_p.L2275L|MGA_ENST00000545763.1_Silent_p.L2066L|MGA_ENST00000389936.4_Silent_p.L2236L			Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2236						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GTCACTTACTGCTACCTGGAG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	75	76			NA	NA	15		NA											NA				42042630		1896	4119	6015	SO:0001819	synonymous_variant			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197	23269	23269		MAX dimerization proteins, T-boxes	14010	protein-coding gene	gene with protein product			MAX gene associated		NA		Standard	NM_001164273.1	NM_001080541	NA	Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.6825G>A	15.37:g.42042630G>A		NA	Q9H8R3|Q9H9N7|Q9UG69|Q9Y4E9	37	CCDS55959.1																																																																																			MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000420229.1		+	ENST00000570161.1	Silent	SNP	15 : 42042630 - 42042630 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	232	57
NCOA2	10499	broad.mit.edu	37	8	71069403	71069403	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71069403G>T	ENST00000452400.2	-	11	1378	c.1197C>A	c.(1195-1197)agC>agA	p.S399R		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	399					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GGCTGTTAGAGCTAATTGGAT	0.463		NA	T	RUNXBP2, HEY1	AML, Chondrosarcoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	0													62	61	61			NA	NA	8		NA											NA				71069403		1946	4151	6097	SO:0001583	missense			X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396	10499	10499		Chromatin-modifying enzymes / K-acetyltransferases, Basic helix-loop-helix proteins	7669	protein-coding gene	gene with protein product		601993			NA	9111344, 8670870	Standard		XM_005251128	NA	Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.1197C>A	8.37:g.71069403G>T	ENSP00000399968:p.Ser399Arg	NA	Q14CD2	37	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	G	8.730	0.916455	0.17907	.	.	ENSG00000140396	ENST00000452400	T	0.01584	4.75	5.8	4.93	0.64822	.	0.133374	0.64402	D	0.000001	T	0.01800	0.0057	L	0.36672	1.1	0.80722	D	1	B	0.31910	0.346	B	0.27887	0.084	T	0.62062	-0.6933	10	0.38643	T	0.18	.	8.3779	0.32453	0.1384:0.1278:0.7338:0.0	.	399	Q15596	NCOA2_HUMAN	R	399	ENSP00000399968:S399R	ENSP00000399968:S399R	S	-	3	2	NCOA2	71231957	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.486000	0.45259	1.451000	0.47736	0.563000	0.77884	AGC	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379696.1		-	ENST00000452400.2	Missense_Mutation	SNP	8 : 71069403 - 71069403 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	163	36
NAV3	89795	broad.mit.edu	37	12	78531042	78531042	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78531042C>T	ENST00000397909.2	+	19	4700	c.4527C>T	c.(4525-4527)ttC>ttT	p.F1509F	NAV3_ENST00000228327.6_Silent_p.F1509F|NAV3_ENST00000536525.2_Silent_p.F1509F|NAV3_ENST00000266692.7_Silent_p.F1332F			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1509	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTCTTCCTTCGATCTCTATG	0.502		NA								HNSCC(70;0.22)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	100	100			NA	NA	12		NA											NA				78531042		1923	4135	6058	SO:0001819	synonymous_variant			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798	89795	89795			15998	protein-coding gene	gene with protein product	pore membrane and/or filament interacting like protein 1, steerin 3	611629			NA	12079279, 12062803	Standard	NM_001024383	XM_005269215	NA	Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4527C>T	12.37:g.78531042C>T		NA	Q8NFW7|Q9Y2E7	37		.	.	.	.	.	.	.	.	.	.	C	10.22	1.288995	0.23478	.	.	ENSG00000067798	ENST00000552895	.	.	.	5.87	-3.38	0.04883	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-19.853	13.9713	0.64242	0.0:0.2815:0.0:0.7185	.	.	.	.	X	404	.	.	R	+	1	2	NAV3	77055173	0.421000	0.25465	0.972000	0.41901	0.953000	0.61014	-0.289000	0.08365	-0.538000	0.06281	-0.224000	0.12420	CGA	NAV3-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000406812.1		+	ENST00000397909.2	Silent	SNP	12 : 78531042 - 78531042 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	456	77
SYCP2	10388	broad.mit.edu	37	20	58457164	58457164	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58457164A>C	ENST00000357552.3	-	27	2811	c.2586T>G	c.(2584-2586)acT>acG	p.T862T	SYCP2_ENST00000371001.2_Silent_p.T862T			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	862					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GGCATTCAGAAGTAACATTAA	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	74	74			NA	NA	20		NA											NA				58457164		2198	4296	6494	SO:0001819	synonymous_variant			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074	10388	10388			11490	protein-coding gene	gene with protein product		604105			NA	10341103, 9592139	Standard	NM_014258	NM_014258	NA	Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.2586T>G	20.37:g.58457164A>C		NA	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	37	CCDS13482.1																																																																																			SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079930.3		-	ENST00000357552.3	Silent	SNP	20 : 58457164 - 58457164 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	220	10
CDKN2AIP	55602	broad.mit.edu	37	4	184367459	184367459	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184367459C>T	ENST00000504169.1	+	3	829	c.622C>T	c.(622-624)Cga>Tga	p.R208*	CDKN2AIP_ENST00000302350.4_3'UTR|CDKN2AIP_ENST00000506835.1_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	208	Ser-rich.				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TGATGGAGATCGATCTGTTTC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	92	93			NA	NA	4		NA											NA				184367459		2203	4300	6503	SO:0001587	stop_gained			AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564	55602	55602			24325	protein-coding gene	gene with protein product	collaborates/cooperates with ARF (alternate reading frame) protein	615914			NA	12154087, 16803988	Standard	NM_017632	NM_017632	NA	Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.622C>T	4.37:g.184367459C>T	ENSP00000427108:p.Arg208*	NA	Q8TBM5|Q9NYH0	37	CCDS34110.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.586677	0.28268	.	.	ENSG00000168564	ENST00000504169	.	.	.	5.44	-6.48	0.01896	.	0.793526	0.10870	N	0.625049	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	2.12	3.8523	0.08960	0.5624:0.1348:0.1711:0.1318	.	.	.	.	X	208	.	ENSP00000427108:R208X	R	+	1	2	CDKN2AIP	184604453	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.407000	0.02488	-0.857000	0.04115	-1.014000	0.02459	CGA	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361488.1		+	ENST00000504169.1	Nonsense_Mutation	SNP	4 : 184367459 - 184367459 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	375	22
LNPEP	4012	broad.mit.edu	37	5	96349496	96349496	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:96349496A>G	ENST00000231368.5	+	12	2872	c.2180A>G	c.(2179-2181)gAc>gGc	p.D727G	LNPEP_ENST00000395770.3_Missense_Mutation_p.D713G	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	727					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		AGTGACAAAGACCGAGCCAAC	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	148	149			NA	NA	5		NA											NA				96349496		2203	4300	6503	SO:0001583	missense			D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	4012	4012	3.4.11.3		6656	protein-coding gene	gene with protein product	cystinyl aminopeptidase, placental leucine aminopeptidase	151300			NA	8550619	Standard	NM_005575	NM_175920	NA	Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.2180A>G	5.37:g.96349496A>G	ENSP00000231368:p.Asp727Gly	NA	O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	37	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.440289	0.83993	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.10099	2.91;2.91	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.33847	0.0877	M	0.79011	2.435	0.80722	D	1	D	0.71674	0.998	D	0.74674	0.984	T	0.13791	-1.0496	10	0.87932	D	0	.	14.618	0.68562	1.0:0.0:0.0:0.0	.	727	Q9UIQ6	LCAP_HUMAN	G	727;713	ENSP00000231368:D727G;ENSP00000379117:D713G	ENSP00000231368:D727G	D	+	2	0	LNPEP	96375252	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	8.791000	0.91849	1.979000	0.57680	0.528000	0.53228	GAC	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250624.1		+	ENST00000231368.5	Missense_Mutation	SNP	5 : 96349496 - 96349496 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	965	185
C7orf25	79020	broad.mit.edu	37	7	42949409	42949409	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42949409G>A	ENST00000350427.4	-	2	1366	c.1091C>T	c.(1090-1092)aCg>aTg	p.T364M	C7orf25_ENST00000447342.1_Missense_Mutation_p.T364M|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000431882.2_Missense_Mutation_p.T422M|C7orf25_ENST00000438029.1_Missense_Mutation_p.T364M			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	364										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						GGTGTCTCCCGTCCCAAAAAT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	81	82			NA	NA	7		NA											NA				42949409		2203	4300	6503	SO:0001583	missense			BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197	79020	79020			21703	protein-coding gene	gene with protein product					NA		Standard	NM_024054	NM_024054	NA	Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.1091C>T	7.37:g.42949409G>A	ENSP00000343364:p.Thr364Met	NA	A4D1V2|Q9H779	37	CCDS5466.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362771	0.61403	.	.	ENSG00000136197	ENST00000350427;ENST00000447342;ENST00000431882;ENST00000438029	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.96	5.08	0.68730	.	0.047210	0.85682	D	0.000000	T	0.68622	0.3021	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.69510	-0.5126	10	0.36615	T	0.2	0.09	15.14	0.72604	0.0675:0.0:0.9325:0.0	.	422;364	B4DQM3;Q9BPX7	.;CG025_HUMAN	M	364;364;422;364	ENSP00000343364:T364M;ENSP00000413029:T364M;ENSP00000416290:T422M;ENSP00000396597:T364M	ENSP00000343364:T364M	T	-	2	0	C7orf25	42915934	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.471000	0.97696	1.525000	0.49052	-0.136000	0.14681	ACG	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250814.2		-	ENST00000350427.4	Missense_Mutation	SNP	7 : 42949409 - 42949409 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	393	49
AADACL2	344752	broad.mit.edu	37	3	151451884	151451884	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151451884A>G	ENST00000356517.3	+	1	170	c.61A>G	c.(61-63)Aca>Gca	p.T21A		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	21						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TCATTTTTACACACCCATGCC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	131	133			NA	NA	3		NA											NA				151451884		2203	4300	6503	SO:0001583	missense			BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953	344752	344752			24427	protein-coding gene	gene with protein product					NA		Standard	NM_207365	NM_207365	NA	Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.61A>G	3.37:g.151451884A>G	ENSP00000348911:p.Thr21Ala	NA	Q5HYJ4	37	CCDS3161.2	.	.	.	.	.	.	.	.	.	.	A	12.84	2.057794	0.36277	.	.	ENSG00000197953	ENST00000356517	T	0.04502	3.61	5.17	0.0266	0.14151	.	.	.	.	.	T	0.03651	0.0104	L	0.38175	1.15	0.09310	N	1	B	0.14012	0.009	B	0.15484	0.013	T	0.45116	-0.9283	9	0.25751	T	0.34	-1.3311	3.274	0.06892	0.553:0.0:0.2783:0.1687	.	21	Q6P093	ADCL2_HUMAN	A	21	ENSP00000348911:T21A	ENSP00000348911:T21A	T	+	1	0	AADACL2	152934574	0.033000	0.19621	0.002000	0.10522	0.151000	0.21798	0.389000	0.20751	0.442000	0.26555	0.533000	0.62120	ACA	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342288.3		+	ENST00000356517.3	Missense_Mutation	SNP	3 : 151451884 - 151451884 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	245	36
ZBTB41	360023	broad.mit.edu	37	1	197169467	197169467	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197169467T>G	ENST00000367405.4	-	1	205	c.137A>C	c.(136-138)gAa>gCa	p.E46A	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						GTGAAGAGCTTCAGGAGTTGG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	106	104			NA	NA	1		NA											NA				197169467		2203	4300	6503	SO:0001583	missense				CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888	360023	360023		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	24819	protein-coding gene	gene with protein product					NA		Standard	NM_194314	NM_194314	NA	Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.137A>C	1.37:g.197169467T>G	ENSP00000356375:p.Glu46Ala	NA	A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	37	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	T	11.35	1.612969	0.28712	.	.	ENSG00000177888	ENST00000367405	T	0.05925	3.37	4.96	3.83	0.44106	.	0.494524	0.16423	N	0.215093	T	0.03651	0.0104	N	0.14661	0.345	0.28586	N	0.9099	B	0.02656	0.0	B	0.01281	0.0	T	0.33189	-0.9878	10	0.72032	D	0.01	.	2.4251	0.04457	0.1308:0.0884:0.2048:0.5761	.	46	Q5SVQ8	ZBT41_HUMAN	A	46	ENSP00000356375:E46A	ENSP00000356375:E46A	E	-	2	0	ZBTB41	195436090	0.989000	0.36119	0.794000	0.32065	0.968000	0.65278	1.307000	0.33516	0.732000	0.32470	0.254000	0.18369	GAA	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088249.2		-	ENST00000367405.4	Missense_Mutation	SNP	1 : 197169467 - 197169467 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	581	89
ITPKB	3707	broad.mit.edu	37	1	226835077	226835077	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226835077A>C	ENST00000272117.3	-	3	2036	c.2037T>G	c.(2035-2037)agT>agG	p.S679R	ITPKB_ENST00000429204.1_Missense_Mutation_p.S679R			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	679							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CTGCCTTGAAACTCCCTGGAG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(84;110 1851 5306 33547)							NA				0													46	45	45			NA	NA	1		NA											NA				226835077		2203	4300	6503	SO:0001583	missense			AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	3707	3707	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	inositol 1,4,5-trisphosphate 3-kinase B		NA	1654894, 1330886	Standard	NM_002221	NM_002221	NA	Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.2037T>G	1.37:g.226835077A>C	ENSP00000272117:p.Ser679Arg	NA	Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	37	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	A	18.28	3.589483	0.66105	.	.	ENSG00000143772	ENST00000272117;ENST00000429204	T;T	0.14266	2.52;2.52	5.19	-3.39	0.04868	.	0.039060	0.85682	D	0.000000	T	0.27765	0.0683	M	0.61703	1.905	0.52099	D	0.999941	D	0.89917	1.0	D	0.73708	0.981	T	0.01977	-1.1236	10	0.72032	D	0.01	-15.5533	12.5148	0.56026	0.7588:0.0:0.2412:0.0	.	679	P27987	IP3KB_HUMAN	R	679	ENSP00000272117:S679R;ENSP00000411152:S679R	ENSP00000272117:S679R	S	-	3	2	ITPKB	224901700	0.028000	0.19301	0.987000	0.45799	0.809000	0.45718	-0.661000	0.05311	-0.545000	0.06224	0.533000	0.62120	AGT	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091632.1		-	ENST00000272117.3	Missense_Mutation	SNP	1 : 226835077 - 226835077 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	128	26
ACSBG1	23205	broad.mit.edu	37	15	78475047	78475047	+	Splice_Site	SNP	C	C	T	rs138877360		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78475047C>T	ENST00000258873.4	-	6	949	c.744G>A	c.(742-744)acG>acA	p.T248T	ACSBG1_ENST00000560817.1_Splice_Site_p.T6T|ACSBG1_ENST00000541759.1_Splice_Site_p.T6T	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	248					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CTGCCCATACCGTGTACACAT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	121	123			NA	NA	15		NA											NA				78475047		2196	4293	6489	SO:0001630	splice_region_variant			AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740	23205	23205		Acyl-CoA synthetase family	29567	protein-coding gene	gene with protein product	bubblegum, very long-chain acyl-CoA synthetase, lipidosin	614362			NA	9734811, 10954726	Standard	NM_015162	NM_015162	NA	Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.744+1G>A	15.37:g.78475047C>T		NA	B2RB61|O75126|Q76N27|Q9HC26	37	CCDS10298.1																																																																																			ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000289802.2	Silent	-	ENST00000258873.4	Splice_Site	SNP	15 : 78475047 - 78475047 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	926	146
GSTCD	79807	broad.mit.edu	37	4	106640462	106640462	+	Missense_Mutation	SNP	G	G	T	rs145276245		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:106640462G>T	ENST00000515279.1	+	3	892	c.672G>T	c.(670-672)caG>caT	p.Q224H	GSTCD_ENST00000507281.1_Missense_Mutation_p.Q137H|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000394728.3_Missense_Mutation_p.Q224H|GSTCD_ENST00000360505.5_Missense_Mutation_p.Q224H|GSTCD_ENST00000394730.3_Missense_Mutation_p.Q137H			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	224	GST C-terminal.					cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		TCCACACACAGGAAACATCTG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	115	113			NA	NA	4		NA											NA				106640462		2203	4300	6503	SO:0001583	missense			BC032942	CCDS3672.2, CCDS43257.1	4q24	2008-02-05	2006-05-09		ENSG00000138780	ENSG00000138780	79807	79807			25806	protein-coding gene	gene with protein product		615912	Glutathione S-transferase, C-terminal domain containing		NA	12477932	Standard	NM_024751	NM_001031720	NA	Approved	FLJ13273	uc003hxz.4	Q8NEC7	OTTHUMG00000131211	ENST00000515279.1:c.672G>T	4.37:g.106640462G>T	ENSP00000422354:p.Gln224His	NA	A8K8J0|A8MVD3|Q9H8S3	37	CCDS43257.1	.	.	.	.	.	.	.	.	.	.	G	9.948	1.219458	0.22373	.	.	ENSG00000138780	ENST00000394730;ENST00000507281;ENST00000515279;ENST00000360505;ENST00000394728	.	.	.	5.0	1.14	0.20703	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	1.077750	0.07016	N	0.825997	T	0.30070	0.0753	L	0.33485	1.01	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.001	T	0.26573	-1.0099	9	0.42905	T	0.14	-7.8221	4.501	0.11863	0.2714:0.3228:0.4057:0.0	.	137;224	D6R9W2;Q8NEC7	.;GSTCD_HUMAN	H	137;137;224;224;224	.	ENSP00000353695:Q224H	Q	+	3	2	GSTCD	106859911	0.000000	0.05858	0.000000	0.03702	0.124000	0.20399	0.497000	0.22514	0.250000	0.21479	0.557000	0.71058	CAG	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363981.1		+	ENST00000515279.1	Missense_Mutation	SNP	4 : 106640462 - 106640462 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	438	68
MST1R	4486	broad.mit.edu	37	3	49934771	49934771	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49934771G>A	ENST00000296474.3	-	7	2152	c.2125C>T	c.(2125-2127)Ctg>Ttg	p.L709L	MST1R_ENST00000344206.4_Silent_p.L709L	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	709	IPT/TIG 2.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CCTACAGACAGACTCTGGCCT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	70	72			NA	NA	3		NA											NA				49934771		2203	4300	6503	SO:0001819	synonymous_variant			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078	4486	4486		CD molecules	7381	protein-coding gene	gene with protein product		600168	PTK8 protein tyrosine kinase 8	RON, PTK8	NA	8386824	Standard		NM_002447	NA	Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.2125C>T	3.37:g.49934771G>A		NA	B5A944|B5A945|B5A946|B5A947	37	CCDS2807.1																																																																																			MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345403.1		-	ENST00000296474.3	Silent	SNP	3 : 49934771 - 49934771 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	405	65
WDR60	55112	broad.mit.edu	37	7	158672615	158672615	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158672615C>T	ENST00000407559.3	+	5	972	c.814C>T	c.(814-816)Cac>Tac	p.H272Y		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	272										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TGATGAGAGGCACCAAAGCAA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	79	78			NA	NA	7		NA											NA				158672615		1890	4095	5985	SO:0001583	missense				CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870	55112	55112		WD repeat domain containing	21862	protein-coding gene	gene with protein product		615462			NA	23910462	Standard	NM_018051	NM_018051	NA	Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.814C>T	7.37:g.158672615C>T	ENSP00000384290:p.His272Tyr	NA	Q9NW58	37	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.779189	0.49891	.	.	ENSG00000126870	ENST00000407559	T	0.24151	1.87	4.73	3.83	0.44106	.	0.534306	0.18461	N	0.140511	T	0.12135	0.0295	N	0.24115	0.695	0.09310	N	0.999998	P	0.44521	0.837	B	0.37451	0.25	T	0.12889	-1.0530	10	0.02654	T	1	-3.3053	9.3825	0.38322	0.0:0.8948:0.0:0.1052	.	272	Q8WVS4	WDR60_HUMAN	Y	272	ENSP00000384290:H272Y	ENSP00000384290:H272Y	H	+	1	0	WDR60	158365376	0.622000	0.27085	0.325000	0.25375	0.002000	0.02628	0.399000	0.20916	2.339000	0.79563	0.655000	0.94253	CAC	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322668.1		+	ENST00000407559.3	Missense_Mutation	SNP	7 : 158672615 - 158672615 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	63
NNT	23530	broad.mit.edu	37	5	43702773	43702773	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43702773G>T	ENST00000264663.5	+	21	3267	c.3046G>T	c.(3046-3048)Gct>Tct	p.A1016S	NNT_ENST00000512996.2_Missense_Mutation_p.A885S|NNT_ENST00000344920.4_Missense_Mutation_p.A1016S	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	1016					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	TAATTCAGCAGCTCAAGAAGA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	78	79			NA	NA	5		NA											NA				43702773		2203	4300	6503	SO:0001583	missense			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	23530	23530	1.6.1.1		7863	protein-coding gene	gene with protein product		607878			NA	9271681, 9524818	Standard	NM_182977	NM_182977	NA	Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.3046G>T	5.37:g.43702773G>T	ENSP00000264663:p.Ala1016Ser	NA	Q16796|Q2TB60|Q8N3V4	37	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.922149	0.92319	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.95171	-3.63;-3.63;-3.63	5.95	5.95	0.96441	.	0.153952	0.56097	D	0.000025	D	0.97645	0.9228	M	0.90705	3.14	0.80722	D	1	B	0.32350	0.366	P	0.51229	0.663	D	0.96975	0.9711	10	0.72032	D	0.01	-17.2498	20.0036	0.97427	0.0:0.0:1.0:0.0	.	1016	Q13423	NNTM_HUMAN	S	531;1016;1016;885	ENSP00000264663:A1016S;ENSP00000343873:A1016S;ENSP00000426343:A885S	ENSP00000264663:A1016S	A	+	1	0	NNT	43738530	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.585000	0.82584	2.824000	0.97209	0.655000	0.94253	GCT	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214026.1		+	ENST00000264663.5	Missense_Mutation	SNP	5 : 43702773 - 43702773 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	41
SYTL3	94120	broad.mit.edu	37	6	159178373	159178373	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159178373G>A	ENST00000297239.9	+	13	1462	c.1268G>A	c.(1267-1269)aGc>aAc	p.S423N	SYTL3_ENST00000360448.3_Missense_Mutation_p.S355N|SYTL3_ENST00000367081.3_Missense_Mutation_p.S149N			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	423					intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TTTGAAGACAGCACAACACAG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	83	88			NA	NA	6		NA											NA				159178373		2203	4300	6503	SO:0001583	missense			AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674	94120	94120			15587	protein-coding gene	gene with protein product					NA	11773082	Standard		NM_001242384	NA	Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.1268G>A	6.37:g.159178373G>A	ENSP00000297239:p.Ser423Asn	NA	Q496J4|Q496J6|Q5U3B9	37	CCDS56458.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.394752	0.42512	.	.	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239;ENST00000367081	T;T;T	0.62941	3.15;3.15;-0.01	5.07	2.29	0.28610	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.697915	0.14583	N	0.310734	T	0.28732	0.0712	L	0.53249	1.67	0.09310	N	1	B;B;B	0.21071	0.051;0.017;0.03	B;B;B	0.15484	0.01;0.007;0.013	T	0.22661	-1.0210	10	0.12766	T	0.61	.	7.9026	0.29744	0.4606:0.0:0.5394:0.0	.	149;423;355	F8W7H4;Q4VX76;Q4VX76-2	.;SYTL3_HUMAN;.	N	355;423;423;149	ENSP00000353631:S355N;ENSP00000297239:S423N;ENSP00000356048:S149N	ENSP00000297239:S423N	S	+	2	0	SYTL3	159098361	0.739000	0.28196	0.000000	0.03702	0.442000	0.32017	1.354000	0.34056	0.538000	0.28769	0.491000	0.48974	AGC	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042876.1		+	ENST00000297239.9	Missense_Mutation	SNP	6 : 159178373 - 159178373 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	26
TNNC2	7125	broad.mit.edu	37	20	44452970	44452970	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44452970C>A	ENST00000372557.1	-	5	437	c.230G>T	c.(229-231)aGc>aTc	p.S77I	TNNC2_ENST00000372555.3_Missense_Mutation_p.S92I			P02585	TNNC2_HUMAN	troponin C type 2 (fast)	92	EF-hand 2.				muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium ion binding			endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)				CTCCTCCTCGCTCTTCCCTTT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	65	66			NA	NA	20		NA											NA				44452970		2203	4300	6503	SO:0001583	missense				CCDS13375.1	20q12-q13.11	2013-01-10	2005-09-12		ENSG00000101470	ENSG00000101470	7125	7125		EF-hand domain containing	11944	protein-coding gene	gene with protein product		191039	troponin C2, fast		NA	2373703	Standard	NM_003279	NM_003279	NA	Approved		uc002xpr.3	P02585	OTTHUMG00000032623	ENST00000372557.1:c.230G>T	20.37:g.44452970C>A	ENSP00000361638:p.Ser77Ile	NA		37		.	.	.	.	.	.	.	.	.	.	C	15.31	2.794949	0.50208	.	.	ENSG00000101470	ENST00000372557;ENST00000372555	T;T	0.63744	-0.06;-0.06	4.48	2.39	0.29439	EF-hand-like domain (1);	0.085611	0.85682	D	0.000000	T	0.56790	0.2009	M	0.63843	1.955	0.53688	D	0.999974	P	0.39060	0.657	B	0.34180	0.177	T	0.66329	-0.5951	10	0.87932	D	0	-21.9345	14.1434	0.65334	0.0:0.5939:0.4061:0.0	.	92	P02585	TNNC2_HUMAN	I	77;92	ENSP00000361638:S77I;ENSP00000361636:S92I	ENSP00000361636:S92I	S	-	2	0	TNNC2	43886377	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.604000	0.36804	1.085000	0.41206	0.544000	0.68410	AGC	TNNC2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000079522.4		-	ENST00000372557.1	Missense_Mutation	SNP	20 : 44452970 - 44452970 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	489	84
GPC4	2239	broad.mit.edu	37	X	132445370	132445370	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:132445370G>A	ENST00000370828.3	-	4	1317	c.793C>T	c.(793-795)Cca>Tca	p.P265S	GPC4_ENST00000535467.1_Missense_Mutation_p.P195S	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	265					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					TTGTAACATGGCTTCACAGTC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	151	156			NA	NA	X		NA											NA				132445370		2203	4300	6503	SO:0001583	missense			AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716	2239	2239		Proteoglycans / Cell Surface : Glypicans	4452	protein-coding gene	gene with protein product	glypican proteoglycan 4	300168			NA	9787072	Standard	NM_001448	NM_001448	NA	Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.793C>T	X.37:g.132445370G>A	ENSP00000359864:p.Pro265Ser	NA	B2R6J7|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	37	CCDS14637.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554225	0.86231	.	.	ENSG00000076716	ENST00000370828;ENST00000536418;ENST00000535467	T;T	0.61040	0.14;0.14	5.61	5.61	0.85477	Glypican, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.79106	0.4390	M	0.89095	3.005	0.80722	D	1	D	0.62365	0.991	D	0.63283	0.913	D	0.83379	0.0011	10	0.72032	D	0.01	-6.6642	17.5641	0.87914	0.0:0.0:1.0:0.0	.	265	O75487	GPC4_HUMAN	S	265;259;195	ENSP00000359864:P265S;ENSP00000444959:P195S	ENSP00000359864:P265S	P	-	1	0	GPC4	132273036	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	6.629000	0.74267	2.363000	0.80096	0.600000	0.82982	CCA	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058338.1		-	ENST00000370828.3	Missense_Mutation	SNP	X : 132445370 - 132445370 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	585	152
THOP1	7064	broad.mit.edu	37	19	2794884	2794884	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2794884G>A	ENST00000307741.6	+	3	555	c.352G>A	c.(352-354)Gtg>Atg	p.V118M		NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	118					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		GAGGGAGGACGTGTACCAGAG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	89	96			NA	NA	19		NA											NA				2794884		2203	4300	6503	SO:0001583	missense				CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	7064	7064	3.4.24.15		11793	protein-coding gene	gene with protein product		601117			NA	9790774	Standard		NM_003249	NA	Approved		uc002lwj.3	P52888		ENST00000307741.6:c.352G>A	19.37:g.2794884G>A	ENSP00000304467:p.Val118Met	NA	Q9UCB3	37	CCDS12095.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504213	0.85176	.	.	ENSG00000172009	ENST00000307741	T	0.08634	3.07	5.12	5.12	0.69794	Neurolysin/Thimet oligopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.35189	0.0923	M	0.86805	2.84	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.32771	-0.9894	10	0.87932	D	0	-61.0448	17.1204	0.86700	0.0:0.0:1.0:0.0	.	118	P52888	THOP1_HUMAN	M	118	ENSP00000304467:V118M	ENSP00000304467:V118M	V	+	1	0	THOP1	2745884	1.000000	0.71417	0.991000	0.47740	0.777000	0.43975	9.003000	0.93577	2.382000	0.81193	0.462000	0.41574	GTG	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451587.2		+	ENST00000307741.6	Missense_Mutation	SNP	19 : 2794884 - 2794884 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	498	101
SPECC1	92521	broad.mit.edu	37	17	20135100	20135100	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:20135100T>C	ENST00000395522.2	+	4	1972	c.1858T>C	c.(1858-1860)Tca>Cca	p.S620P	SPECC1_ENST00000395527.4_Missense_Mutation_p.S701P|SPECC1_ENST00000261503.5_Missense_Mutation_p.S701P|SPECC1_ENST00000395529.3_Missense_Mutation_p.S701P|SPECC1_ENST00000395525.3_Missense_Mutation_p.S620P|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000536879.1_Missense_Mutation_p.S41P|SPECC1_ENST00000584527.1_Missense_Mutation_p.S119P|SPECC1_ENST00000472876.1_3'UTR|SPECC1_ENST00000395530.2_Missense_Mutation_p.S620P	NM_001033554.2|NM_001243438.1	NP_001028726.1|NP_001230367.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	701						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GGAACAGAAGTCAGACCTGGA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	110	109			NA	NA	17		NA											NA				20135100		2203	4300	6503	SO:0001583	missense			AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487	92521	92521			30615	protein-coding gene	gene with protein product	sperm antigen HCMOGT 1, cytokinesis and spindle organization B, cytospin B	608793			NA	15602574, 18763323, 15087372	Standard	NM_152904	NM_001033553	NA	Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000395522.2:c.1858T>C	17.37:g.20135100T>C	ENSP00000378893:p.Ser620Pro	NA	B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	37	CCDS58531.1	.	.	.	.	.	.	.	.	.	.	T	12.96	2.095805	0.36952	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529;ENST00000536879;ENST00000395522;ENST00000395527;ENST00000395525	T;D;D;D;D	0.83591	-0.09;-1.74;-1.71;-1.71;-1.71	4.15	3.07	0.35406	.	0.928503	0.09088	N	0.850366	T	0.76737	0.4029	L	0.36672	1.1	0.26753	N	0.970157	B;P;P;P;B	0.40250	0.323;0.709;0.709;0.709;0.323	B;B;B;B;B	0.43754	0.162;0.353;0.353;0.43;0.162	T	0.66799	-0.5832	10	0.39692	T	0.17	-5.9859	4.8122	0.13349	0.0:0.2174:0.0:0.7825	.	701;620;620;701;701	A8MV89;Q5M775-4;Q5M775-3;Q5M775-2;Q5M775	.;.;.;.;CYTSB_HUMAN	P	701;701;701;41;620;620;620	ENSP00000261503:S701P;ENSP00000378900:S701P;ENSP00000438294:S41P;ENSP00000378893:S620P;ENSP00000378896:S620P	ENSP00000261503:S701P	S	+	1	0	SPECC1	20075692	0.899000	0.30636	1.000000	0.80357	0.985000	0.73830	1.331000	0.33793	1.863000	0.54032	0.460000	0.39030	TCA	SPECC1-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132367.4		+	ENST00000395522.2	Missense_Mutation	SNP	17 : 20135100 - 20135100 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	577	48
NOS2	4843	broad.mit.edu	37	17	26091072	26091072	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26091072G>A	ENST00000313735.6	-	21	2760	c.2527C>T	c.(2527-2529)Ctc>Ttc	p.L843F		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	843	FAD-binding FR-type.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	AGCTTTTGGAGCAGCAGCTGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	33	32			NA	NA	17		NA											NA				26091072		2203	4300	6503	SO:0001583	missense			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	4843	4843	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	nitric oxide synthase 2A (inducible, hepatocytes)	NOS2A	NA	7682706	Standard	NM_000625	NM_000625	NA	Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.2527C>T	17.37:g.26091072G>A	ENSP00000327251:p.Leu843Phe	NA	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	37	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199369	0.58126	.	.	ENSG00000007171	ENST00000313735;ENST00000379105	T	0.40225	1.04	5.23	4.26	0.50523	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.64402	D	0.000004	T	0.59224	0.2178	L	0.58583	1.82	0.51012	D	0.9999	D	0.89917	1.0	D	0.97110	1.0	T	0.62243	-0.6895	10	0.87932	D	0	.	12.4192	0.55510	0.0823:0.0:0.9177:0.0	.	843	P35228	NOS2_HUMAN	F	843;804	ENSP00000327251:L843F	ENSP00000327251:L843F	L	-	1	0	NOS2	23115199	1.000000	0.71417	0.994000	0.49952	0.393000	0.30537	8.026000	0.88783	1.198000	0.43158	0.462000	0.41574	CTC	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255597.1		-	ENST00000313735.6	Missense_Mutation	SNP	17 : 26091072 - 26091072 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	182	36
OR13J1	392309	broad.mit.edu	37	9	35870113	35870113	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35870113C>T	ENST00000377981.2	-	1	348	c.286G>A	c.(286-288)Gtc>Atc	p.V96I		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			ATGGCACAGACAGCAAAGGAG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	112	114			NA	NA	9		NA											NA				35870113		2203	4300	6503	SO:0001583	missense				CCDS35011.1	9p13.3	2013-09-24			ENSG00000168828	ENSG00000168828	392309	392309		GPCR / Class A : Olfactory receptors	15108	protein-coding gene	gene with protein product					NA		Standard		NM_001004487	NA	Approved		uc011lph.2	Q8NGT2	OTTHUMG00000019879	ENST00000377981.2:c.286G>A	9.37:g.35870113C>T	ENSP00000367219:p.Val96Ile	NA	B2RN66|Q6IF20|Q96R40	37	CCDS35011.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068871	0.36470	.	.	ENSG00000168828	ENST00000377981	T	0.03004	4.08	4.68	4.68	0.58851	GPCR, rhodopsin-like superfamily (1);	0.106709	0.41823	D	0.000803	T	0.03136	0.0092	N	0.20986	0.625	0.09310	N	1	B	0.15141	0.012	B	0.06405	0.002	T	0.33574	-0.9863	10	0.87932	D	0	.	9.0204	0.36195	0.0:0.9037:0.0:0.0963	.	96	Q8NGT2	O13J1_HUMAN	I	96	ENSP00000367219:V96I	ENSP00000367219:V96I	V	-	1	0	OR13J1	35860113	0.002000	0.14202	0.211000	0.23655	0.814000	0.46013	1.811000	0.38942	2.890000	0.99128	0.650000	0.86243	GTC	OR13J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052381.1		-	ENST00000377981.2	Missense_Mutation	SNP	9 : 35870113 - 35870113 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	293	10
FRMPD1	22844	broad.mit.edu	37	9	37745576	37745576	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37745576G>T	ENST00000539465.1	+	16	4140	c.3547G>T	c.(3547-3549)Gga>Tga	p.G1183*	FRMPD1_ENST00000377765.3_Nonsense_Mutation_p.G1183*|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1183						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AGACCCTCAAGGACAGAGCAG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	62	61			NA	NA	9		NA											NA				37745576		2203	4300	6503	SO:0001587	stop_gained			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601	22844	22844			29159	protein-coding gene	gene with protein product					NA	10231032	Standard	NM_014907	NM_014907	NA	Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.3547G>T	9.37:g.37745576G>T	ENSP00000444411:p.Gly1183*	NA	D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	37	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	43	10.015053	0.99318	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	.	.	.	5.33	4.44	0.53790	.	1.221790	0.05564	N	0.569825	.	.	.	.	.	.	0.24819	N	0.992599	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	0.0487	9.9312	0.41523	0.0939:0.0:0.9061:0.0	.	.	.	.	X	1183	.	ENSP00000366995:G1183X	G	+	1	0	FRMPD1	37735576	0.001000	0.12720	0.007000	0.13788	0.137000	0.21094	0.888000	0.28268	1.257000	0.44085	0.561000	0.74099	GGA	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402969.1		+	ENST00000539465.1	Nonsense_Mutation	SNP	9 : 37745576 - 37745576 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	422	63
PPAPDC1B	84513	broad.mit.edu	37	8	38123804	38123804	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38123804C>T	ENST00000531823.1	-	6	522	c.93G>A	c.(91-93)gcG>gcA	p.A31A	PPAPDC1B_ENST00000424479.2_Silent_p.A163A|PPAPDC1B_ENST00000529359.1_Silent_p.A122A|PPAPDC1B_ENST00000422581.2_Silent_p.A163A			Q8NEB5	PPC1B_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1B	163					phospholipid dephosphorylation	cytoplasm|integral to membrane|plasma membrane	phosphatidate phosphatase activity			kidney(1)|lung(1)	2	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	BRCA - Breast invasive adenocarcinoma(5;3.04e-26)|COAD - Colon adenocarcinoma(9;0.188)			GGTAGAAGGACGCAAAGGCCA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001819	synonymous_variant			AF212238	CCDS47841.1, CCDS47842.1, CCDS47843.1	8p12	2005-08-09			ENSG00000147535	ENSG00000147535	84513	84513			25026	protein-coding gene	gene with protein product		610626			NA		Standard	NM_032483	NM_032483	NA	Approved	HTPAP	uc003xlf.4	Q8NEB5	OTTHUMG00000165104	ENST00000531823.1:c.93G>A	8.37:g.38123804C>T		NA	Q3KQX6|Q9BY45	37																																																																																				PPAPDC1B-015	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000381875.1		-	ENST00000531823.1	Silent	SNP	8 : 38123804 - 38123804 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	107	12
ZCWPW1	55063	broad.mit.edu	37	7	100006218	100006218	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100006218G>T	ENST00000490721.1	-	7	1010	c.573C>A	c.(571-573)gcC>gcA	p.A191A	ZCWPW1_ENST00000324725.6_Silent_p.A191A|ZCWPW1_ENST00000398027.2_Silent_p.A311A|ZCWPW1_ENST00000360951.4_Silent_p.A312A			Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	311							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGAGGCATAGGCCACATCAC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	153	154			NA	NA	7		NA											NA				100006218		2025	4192	6217	SO:0001819	synonymous_variant			AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487	55063	55063			23486	protein-coding gene	gene with protein product			zinc finger, CW-type with PWWP domain 1		NA	11230166, 14607086, 20826339	Standard	NM_017984	NM_017984	NA	Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000490721.1:c.573C>A	7.37:g.100006218G>T		NA	A8MVF5|Q8NA98|Q9BUD0|Q9NWF7	37																																																																																				ZCWPW1-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000356086.1		-	ENST00000490721.1	Silent	SNP	7 : 100006218 - 100006218 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	391	104
DPH5	51611	broad.mit.edu	37	1	101456141	101456141	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101456141G>A	ENST00000370109.3	-	8	793	c.681C>T	c.(679-681)gcC>gcT	p.A227A	DPH5_ENST00000488176.1_Silent_p.A227A|DPH5_ENST00000342173.7_Silent_p.A226A|AC093157.1_ENST00000593496.1_Silent_p.S45S|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000427040.2_5'UTR	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	227					peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		TCTGGTCGTCGGCTCCAACCC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	91	92			NA	NA	1		NA											NA				101456141		1972	4145	6117	SO:0001819	synonymous_variant			AF132964	CCDS41358.1, CCDS41359.1	1p21.2	2013-05-02	2013-05-02		ENSG00000117543	ENSG00000117543	51611	51611			24270	protein-coding gene	gene with protein product		611075	DPH5 homolog (S. cerevisiae)		NA	15485916, 23486472	Standard	NM_015958	NM_015958	NA	Approved	CGI-30	uc001dtt.2	Q9H2P9	OTTHUMG00000010829	ENST00000370109.3:c.681C>T	1.37:g.101456141G>A		NA	D3DT62|Q9P017|Q9P0I4|Q9Y319	37	CCDS41358.1																																																																																			DPH5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029881.1		-	ENST00000370109.3	Silent	SNP	1 : 101456141 - 101456141 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	322	63
TRMT11	60487	broad.mit.edu	37	6	126342391	126342391	+	Missense_Mutation	SNP	C	C	T	rs143525602		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:126342391C>T	ENST00000368332.3	+	12	1297	c.1225C>T	c.(1225-1227)Cgc>Tgc	p.R409C	TRMT11_ENST00000334379.5_Missense_Mutation_p.R409C			Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	409					tRNA processing		methyltransferase activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		CACATCAAGGCGCTTGATCAC	0.403		NA											C	1	5e-04	NA	NA	2184	0.0017	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9135	EXOME	NA	NA	0.0022	SNP								NA				0								C	CYS/ARG	0,4406		0,0,2203	81	78	79		1225	5.7	1	6	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TRMT11	NM_001031712.2	180	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	409/464	126342391	1,13005	2203	4300	6503	SO:0001583	missense			AF182423	CCDS35496.1	6q11.1-q22.33	2009-06-15	2006-11-28	2006-11-28	ENSG00000066651	ENSG00000066651	60487	60487			21080	protein-coding gene	gene with protein product			chromosome 6 open reading frame 75	C6orf75	NA		Standard	NM_021820	XM_006715546	NA	Approved	MDS024, dJ187J11.2, TRM11, TRMT11-1	uc003qam.3	Q7Z4G4	OTTHUMG00000015515	ENST00000368332.3:c.1225C>T	6.37:g.126342391C>T	ENSP00000357316:p.Arg409Cys	NA	E1P570|Q5JY11|Q6PGQ5|Q9HC13	37		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	22.8	4.340821	0.81911	0.0	1.16E-4	ENSG00000066651	ENST00000334379;ENST00000368332	T;T	0.56444	0.47;0.46	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.69405	0.3107	M	0.84846	2.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.81914	0.995;0.877	T	0.72827	-0.4175	10	0.54805	T	0.06	-1.4668	13.9605	0.64175	0.0:0.9274:0.0:0.0726	.	409;409	Q7Z4G4-2;Q7Z4G4	.;TRM11_HUMAN	C	409	ENSP00000333934:R409C;ENSP00000357316:R409C	ENSP00000333934:R409C	R	+	1	0	TRMT11	126384084	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.745000	0.62125	2.669000	0.90835	0.585000	0.79938	CGC	TRMT11-006	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000042096.3		+	ENST00000368332.3	Missense_Mutation	SNP	6 : 126342391 - 126342391 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	357	25
GLRB	2743	broad.mit.edu	37	4	158057850	158057850	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:158057850G>A	ENST00000264428.4	+	5	797	c.527G>A	c.(526-528)aGg>aAg	p.R176K	GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Splice_Site_p.R176K|GLRB_ENST00000509282.1_Splice_Site_p.R176K	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	176					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	GTCAGCATGAGGTACTCTTTT	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	104	103			NA	NA	4		NA											NA				158057850		2203	4299	6502	SO:0001630	splice_region_variant			U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738	2743	2743			4329	protein-coding gene	gene with protein product		138492			NA	9676428, 8717357	Standard	NM_000824	NM_000824	NA	Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.527+1G>A	4.37:g.158057850G>A		NA	A8K3K2|D3DP23	37	CCDS3796.1	.	.	.	.	.	.	.	.	.	.	G	29.4	4.999186	0.93227	.	.	ENSG00000109738	ENST00000264428;ENST00000541722;ENST00000509282	T;T;T	0.80994	-1.44;-1.44;-1.44	5.34	5.34	0.76211	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.89712	0.6794	M	0.73430	2.235	0.80722	D	1	D	0.63046	0.992	D	0.74348	0.983	D	0.90671	0.4598	10	0.87932	D	0	.	19.0435	0.93011	0.0:0.0:1.0:0.0	.	176	P48167	GLRB_HUMAN	K	176	ENSP00000264428:R176K;ENSP00000441873:R176K;ENSP00000427186:R176K	ENSP00000264428:R176K	R	+	2	0	GLRB	158277300	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	9.807000	0.99171	2.487000	0.83934	0.557000	0.71058	AGG	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366507.1	Missense_Mutation	+	ENST00000264428.4	Splice_Site	SNP	4 : 158057850 - 158057850 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	431	14
NPC1	4864	broad.mit.edu	37	18	21148813	21148813	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21148813T>C	ENST00000269228.5	-	4	991	c.437A>G	c.(436-438)tAc>tGc	p.Y146C	NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	146					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TCCGACGTAGTATTGTAACTC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	159	164			NA	NA	18		NA											NA				21148813		2203	4300	6503	SO:0001583	missense			AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458	4864	4864			7897	protein-coding gene	gene with protein product		607623			NA	8446622	Standard	NM_000271	NM_000271	NA	Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.437A>G	18.37:g.21148813T>C	ENSP00000269228:p.Tyr146Cys	NA	Q9P130	37	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	T	17.66	3.444146	0.63067	.	.	ENSG00000141458	ENST00000269228	D	0.91295	-2.82	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.92909	0.7744	M	0.82630	2.6	0.80722	D	1	P	0.40619	0.724	P	0.45195	0.473	D	0.93099	0.6507	10	0.52906	T	0.07	-33.6711	16.3798	0.83452	0.0:0.0:0.0:1.0	.	146	O15118	NPC1_HUMAN	C	146	ENSP00000269228:Y146C	ENSP00000269228:Y146C	Y	-	2	0	NPC1	19402811	1.000000	0.71417	1.000000	0.80357	0.198000	0.23893	7.846000	0.86887	2.271000	0.75665	0.533000	0.62120	TAC	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254823.2		-	ENST00000269228.5	Missense_Mutation	SNP	18 : 21148813 - 21148813 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	423	59
EPB41L4B	54566	broad.mit.edu	37	9	111956567	111956567	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111956567G>T	ENST00000374566.3	-	21	2673	c.2156C>A	c.(2155-2157)cCc>cAc	p.P719H		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	719						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTGGACCTTGGGGGACGGCAG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	139	134			NA	NA	9		NA											NA				111956567		2028	4186	6214	SO:0001583	missense			AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203	54566	54566			19818	protein-coding gene	gene with protein product		610340			NA	10783258	Standard	NM_018424	NM_018424	NA	Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.2156C>A	9.37:g.111956567G>T	ENSP00000363694:p.Pro719His	NA	Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	37	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511193	0.64522	.	.	ENSG00000095203	ENST00000262536;ENST00000374566	D	0.92965	-3.14	5.49	5.49	0.81192	.	0.000000	0.37669	N	0.001986	D	0.94716	0.8295	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94895	0.8051	10	0.72032	D	0.01	.	14.8772	0.70504	0.0:0.0:1.0:0.0	.	719	Q9H329	E41LB_HUMAN	H	404;719	ENSP00000363694:P719H	ENSP00000262536:P404H	P	-	2	0	EPB41L4B	110996388	1.000000	0.71417	0.678000	0.29963	0.532000	0.34746	5.211000	0.65219	2.582000	0.87167	0.655000	0.94253	CCC	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053592.1		-	ENST00000374566.3	Missense_Mutation	SNP	9 : 111956567 - 111956567 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	454	116
EPHB6	2051	broad.mit.edu	37	7	142566809	142566809	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142566809T>G	ENST00000392957.2	+	16	3153	c.2366T>G	c.(2365-2367)tTt>tGt	p.F789C	EPHB6_ENST00000411471.2_Missense_Mutation_p.F512C|EPHB6_ENST00000442129.1_Missense_Mutation_p.F789C	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	789	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CTGTCCAGCTTTGCCTTCGTC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	56	60			NA	NA	7		NA											NA				142566809		2203	4300	6503	SO:0001583	missense			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123	NA	2051		EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3396	protein-coding gene	gene with protein product		602757	EphB6		NA		Standard		XM_006715881	NA	Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.2366T>G	7.37:g.142566809T>G	ENSP00000376684:p.Phe789Cys	NA	A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	37	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	T	14.28	2.486867	0.44249	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	D;D;D	0.82526	-1.62;-1.62;-1.62	5.56	4.45	0.53987	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.144593	0.32533	N	0.005977	T	0.67192	0.2867	N	0.05199	-0.095	0.37223	D	0.905338	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.001	T	0.69165	-0.5217	10	0.66056	D	0.02	.	12.7526	0.57316	0.0:0.0:0.1672:0.8328	.	789;512	O15197;O15197-2	EPHB6_HUMAN;.	C	789;789;512	ENSP00000376684:F789C;ENSP00000410789:F789C;ENSP00000409061:F512C	ENSP00000376684:F789C	F	+	2	0	EPHB6	142276931	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	4.210000	0.58500	2.112000	0.64535	0.379000	0.24179	TTT	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341329.1		+	ENST00000392957.2	Missense_Mutation	SNP	7 : 142566809 - 142566809 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	244	33
SLC18A2	6571	broad.mit.edu	37	10	119003516	119003516	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:119003516G>A	ENST00000298472.5	+	3	299	c.156G>A	c.(154-156)aaG>aaA	p.K52K	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	52					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	ACAGCATTAAGCATGAGAAGA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	58	61			NA	NA	10		NA											NA				119003516		2203	4300	6503	SO:0001819	synonymous_variant			L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646	6571	6571		Solute carriers	10935	protein-coding gene	gene with protein product		193001		VMAT2	NA		Standard	NM_003054	NM_003054	NA	Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.156G>A	10.37:g.119003516G>A		NA	B2RC96|D3DRC4|Q15876|Q5VW49|Q9H3P6	37	CCDS7599.1																																																																																			SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050563.1		+	ENST00000298472.5	Silent	SNP	10 : 119003516 - 119003516 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	171	35
EPSTI1	94240	broad.mit.edu	37	13	43538235	43538235	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:43538235T>G	ENST00000313640.7	-	4	436	c.372A>C	c.(370-372)caA>caC	p.Q124H	EPSTI1_ENST00000476830.2_5'UTR|EPSTI1_ENST00000398762.3_Missense_Mutation_p.Q124H|EPSTI1_ENST00000313624.7_Missense_Mutation_p.Q124H	NM_001002264.2	NP_001002264.1	Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	124										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		TCAGCTGGAGTTGTTGTTTCT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	135	139			NA	NA	13		NA											NA				43538235		2203	4299	6502	SO:0001583	missense			AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106	94240	94240			16465	protein-coding gene	gene with protein product	epithelial stromal interaction protein 1	607441			NA	11991720	Standard	NM_001002264	NM_033255	NA	Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814	ENST00000313640.7:c.372A>C	13.37:g.43538235T>G	ENSP00000318982:p.Gln124His	NA	Q8IVC7|Q8NDQ7	37	CCDS31964.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.030573	0.54790	.	.	ENSG00000133106	ENST00000313640;ENST00000313624;ENST00000398762	T	0.22539	1.95	5.02	-4.44	0.03557	.	0.071421	0.56097	D	0.000026	T	0.38957	0.1060	M	0.71581	2.175	0.23162	N	0.998199	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.31752	-0.9932	10	0.87932	D	0	-14.6084	13.4021	0.60889	0.0:0.6759:0.0:0.3241	.	124;124	Q96J88-2;Q96J88-3	.;.	H	124	ENSP00000318982:Q124H	ENSP00000318643:Q124H	Q	-	3	2	EPSTI1	42436235	0.508000	0.26154	0.866000	0.34008	0.957000	0.61999	-0.301000	0.08232	-0.962000	0.03604	-0.250000	0.11733	CAA	EPSTI1-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276154.2		-	ENST00000313640.7	Missense_Mutation	SNP	13 : 43538235 - 43538235 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	215	36
MYH1	4619	broad.mit.edu	37	17	10399596	10399596	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10399596C>T	ENST00000226207.5	-	34	5021	c.4927G>A	c.(4927-4929)Gcc>Acc	p.A1643T	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1643				A -> D (in Ref. 4; CAA27380).		muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTCCTCAGGGCCTCAGCAGCC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													182	163	170			NA	NA	17		NA											NA				10399596		2203	4300	6503	SO:0001583	missense				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061	4619	4619		Myosins / Myosin superfamily : Class II	7567	protein-coding gene	gene with protein product	myosin heavy chain IIx/d	160730	myosin, heavy polypeptide 1, skeletal muscle, adult		NA	6304733	Standard	NM_005963	NM_005963	NA	Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4927G>A	17.37:g.10399596C>T	ENSP00000226207:p.Ala1643Thr	NA	Q14CA4|Q9Y622	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076045	0.36662	.	.	ENSG00000109061	ENST00000226207	T	0.79845	-1.31	5.53	5.53	0.82687	Myosin tail (1);	0.000000	0.42964	U	0.000639	T	0.76011	0.3928	M	0.62154	1.92	0.42200	D	0.991768	B	0.06786	0.001	B	0.15052	0.012	T	0.71163	-0.4673	10	0.40728	T	0.16	.	9.0459	0.36347	0.1477:0.7783:0.0:0.074	.	1643	P12882	MYH1_HUMAN	T	1643	ENSP00000226207:A1643T	ENSP00000226207:A1643T	A	-	1	0	MYH1	10340321	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.784000	0.38674	2.758000	0.94735	0.655000	0.94253	GCC	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252725.1		-	ENST00000226207.5	Missense_Mutation	SNP	17 : 10399596 - 10399596 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	806	138
NDRG4	65009	broad.mit.edu	37	16	58537860	58537860	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58537860C>T	ENST00000568640.1	+	2	323				NDRG4_ENST00000394279.2_Intron|NDRG4_ENST00000563022.1_3'UTR|NDRG4_ENST00000570248.1_Intron|NDRG4_ENST00000563799.1_Splice_Site_p.S60S|NDRG4_ENST00000562999.1_Intron|NDRG4_ENST00000356752.4_Intron|NDRG4_ENST00000394282.4_Intron|NDRG4_ENST00000258187.5_Intron|NDRG4_ENST00000566192.1_Intron|NDRG4_ENST00000569923.1_Intron			Q9ULP0	NDRG4_HUMAN	NDRG family member 4	NA					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						TCAGCCAGAGCGGTGAGGCCC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001627	intron_variant			AB044947	CCDS10797.1, CCDS45500.1, CCDS55999.1, CCDS58465.1, CCDS58466.1, CCDS58467.1	16q21-q22.3	2008-07-04			ENSG00000103034	ENSG00000103034	65009	65009			14466	protein-coding gene	gene with protein product		614463			NA	11352569, 16408304	Standard		NM_020465	NA	Approved	KIAA1180, SMAP-8	uc002enk.3	Q9ULP0	OTTHUMG00000133485	ENST00000568640.1:c.181+53C>T	16.37:g.58537860C>T		NA	B3KNU2|Q6ZNE7|Q6ZTI7|Q96PL9|Q9GZM1|Q9GZN3|Q9GZX0	37	CCDS58465.1																																																																																			NDRG4-006	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000422667.3		+	ENST00000568640.1	Intron	SNP	16 : 58537860 - 58537860 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	154	33
FAM175A	84142	broad.mit.edu	37	4	84390218	84390218	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:84390218G>A	ENST00000321945.7	-	6	671	c.563C>T	c.(562-564)tCc>tTc	p.S188F	MRPS18C_ENST00000509571.1_Intron|FAM175A_ENST00000505489.1_5'UTR|FAM175A_ENST00000506553.1_Missense_Mutation_p.S139F	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	188					chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						AAAACCAGTGGACATACAGGA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	131	128			NA	NA	4		NA											NA				84390218		2203	4300	6503	SO:0001583	missense			AK023676	CCDS3605.2	4q21.23	2008-10-31	2008-07-02	2008-07-02	ENSG00000163322	ENSG00000163322	84142	84142			25829	protein-coding gene	gene with protein product	Abraxas protein	611143	coiled-coil domain containing 98	CCDC98	NA	12975309, 17525340	Standard	NM_139076	NM_139076	NA	Approved	FLJ13614, ABRA1	uc003hou.2	Q6UWZ7	OTTHUMG00000130429	ENST00000321945.7:c.563C>T	4.37:g.84390218G>A	ENSP00000369857:p.Ser188Phe	NA	A5JJ07|Q9H8I1|Q9H9N4	37	CCDS3605.2	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663703	0.67700	.	.	ENSG00000163322	ENST00000321945;ENST00000506553	T;T	0.45668	0.89;0.89	5.38	4.51	0.55191	.	0.050360	0.85682	D	0.000000	T	0.64000	0.2559	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68349	-0.5432	10	0.87932	D	0	-13.6146	16.1534	0.81640	0.0:0.1331:0.8669:0.0	.	188	Q6UWZ7	F175A_HUMAN	F	188;139	ENSP00000369857:S188F;ENSP00000426763:S139F	ENSP00000369857:S188F	S	-	2	0	FAM175A	84609242	1.000000	0.71417	0.056000	0.19401	0.841000	0.47740	7.142000	0.77339	2.518000	0.84900	0.555000	0.69702	TCC	FAM175A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252818.1		-	ENST00000321945.7	Missense_Mutation	SNP	4 : 84390218 - 84390218 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	778	165
ARHGEF12	23365	broad.mit.edu	37	11	120348237	120348237	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120348237T>C	ENST00000397843.2	+	36	3698		c.e36+2		ARHGEF12_ENST00000356641.3_Splice_Site|ARHGEF12_ENST00000532993.1_Splice_Site	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	NA					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		AGAGTCCAGGTACACTCTTCT	0.423		NA	T	MLL	AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0													89	89	89			NA	NA	11		NA											NA				120348237		1900	4125	6025	SO:0001630	splice_region_variant			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914	23365	23365		Rho guanine nucleotide exchange factors	14193	protein-coding gene	gene with protein product		604763			NA	10681437, 9205841	Standard	NM_015313	NM_001198665	NA	Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3532+2T>C	11.37:g.120348237T>C		NA	O15086|Q6P526	37	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	T	13.23	2.175037	0.38413	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2739	0.60177	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGEF12	119853447	1.000000	0.71417	0.982000	0.44146	0.403000	0.30841	4.499000	0.60380	1.936000	0.56123	0.477000	0.44152	.	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388052.1	Intron	+	ENST00000397843.2	Splice_Site	SNP	11 : 120348237 - 120348237 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	231	24
TFIP11	24144	broad.mit.edu	37	22	26902834	26902834	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26902834C>T	ENST00000407690.1	-	5	553	c.270G>A	c.(268-270)gcG>gcA	p.A90A	TFIP11_ENST00000405938.1_Silent_p.A90A|TFIP11_ENST00000407148.1_Silent_p.A90A|TFIP11_ENST00000407431.1_Silent_p.A90A	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	90					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CTGCCTCCTCCGCTGCCCCTT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	1,4405	2.1+/-5.4	0,1,2202	88	81	84		270,270	-7.6	0.7	22		84	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TFIP11	NM_001008697.1,NM_012143.2	,	0,2,6501	TT,TC,CC	NA	0.0116,0.0227,0.0154	,	90/838,90/838	26902834	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109	24144	24144		G patch domain containing	17165	protein-coding gene	gene with protein product		612747			NA	10806191, 11230166	Standard	NM_001008697	NM_012143	NA	Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.270G>A	22.37:g.26902834C>T		NA	O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	37	CCDS13838.1																																																																																			TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320750.1		-	ENST00000407690.1	Silent	SNP	22 : 26902834 - 26902834 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	495	45
SVIL	6840	broad.mit.edu	37	10	29754582	29754582	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:29754582G>T	ENST00000355867.4	-	34	6827	c.6075C>A	c.(6073-6075)ccC>ccA	p.P2025P	PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000535393.1_Silent_p.P939P|SVIL_ENST00000375400.3_Silent_p.P1599P|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000375398.2_Silent_p.P2025P	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	2025					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGACCACAGAGGGGGCTCGGG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	46	45			NA	NA	10		NA											NA				29754582		2203	4299	6502	SO:0001819	synonymous_variant			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321	6840	6840			11480	protein-coding gene	gene with protein product	archvillin	604126			NA	9382871	Standard		NM_003174	NA	Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.6075C>A	10.37:g.29754582G>T		NA	D3DRW9|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	37	CCDS7164.1																																																																																			SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047395.1		-	ENST00000355867.4	Silent	SNP	10 : 29754582 - 29754582 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	321	55
FBXO34	55030	broad.mit.edu	37	14	55818033	55818033	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55818033C>T	ENST00000313833.4	+	2	1170	c.925C>T	c.(925-927)Cgt>Tgt	p.R309C	FBXO34_ENST00000440021.1_Missense_Mutation_p.R309C	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	309										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						TAACAGCTTCCGTCGAAATGT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	113	111	112		925,925	2.7	0.4	14		112	0,8600		0,0,4300	no	missense,missense	FBXO34	NM_017943.3,NM_152231.1	180,180	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging	309/712,309/712	55818033	1,13005	2203	4300	6503	SO:0001583	missense			AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974	55030	55030		F-boxes /  other	20201	protein-coding gene	gene with protein product		609104	F-box only protein 34		NA		Standard		NM_017943	NA	Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.925C>T	14.37:g.55818033C>T	ENSP00000313159:p.Arg309Cys	NA	Q2VPB5|Q86TY4	37	CCDS32086.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.481727	0.26598	2.27E-4	0.0	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.27104	1.69;1.69	5.48	2.7	0.31948	.	0.643718	0.14116	N	0.340394	T	0.23766	0.0575	M	0.72894	2.215	0.51767	D	0.999938	B	0.32939	0.391	B	0.23419	0.046	T	0.06356	-1.0831	10	0.87932	D	0	-6.6979	5.6371	0.17542	0.1376:0.6488:0.0:0.2136	.	309	Q9NWN3	FBX34_HUMAN	C	309	ENSP00000313159:R309C;ENSP00000394117:R309C	ENSP00000313159:R309C	R	+	1	0	FBXO34	54887786	1.000000	0.71417	0.370000	0.25965	0.046000	0.14306	3.229000	0.51278	0.436000	0.26393	0.650000	0.86243	CGT	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411322.1		+	ENST00000313833.4	Missense_Mutation	SNP	14 : 55818033 - 55818033 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	663	22
VWA3B	200403	broad.mit.edu	37	2	98853155	98853155	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98853155G>A	ENST00000477737.1	+	19	2839	c.2635G>A	c.(2635-2637)Gtc>Atc	p.V879I		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	879								p.V879F(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTATGTTCCCGTCCTGGACAA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)						G	ILE/VAL	1,4057		0,1,2028	128	135	133		2635	-5.5	0	2		133	2,8398		0,2,4198	no	missense	VWA3B	NM_144992.4	29	0,3,6226	AA,AG,GG	NA	0.0238,0.0246,0.0241	benign	879/1295	98853155	3,12455	2029	4200	6229	SO:0001583	missense			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658	200403	200403			28385	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_144992	NM_144992	NA	Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.2635G>A	2.37:g.98853155G>A	ENSP00000417955:p.Val879Ile	NA	B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	37	CCDS42718.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.010|0.010	-1.788127|-1.788127	0.00628|0.00628	2.46E-4|2.46E-4	2.38E-4|2.38E-4	ENSG00000168658|ENSG00000168658	ENST00000473149|ENST00000477737	.|T	.|0.04603	.|3.59	4.93|4.93	-5.54|-5.54	0.02544|0.02544	.|.	.|0.860524	.|0.09978	.|N	.|0.731380	T|T	0.01353|0.01353	0.0044|0.0044	N|N	0.01505|0.01505	-0.83|-0.83	0.09310|0.09310	N|N	0.999994|0.999994	.|B;B;B;B	.|0.15719	.|0.007;0.014;0.005;0.005	.|B;B;B;B	.|0.11329	.|0.004;0.004;0.006;0.002	T|T	0.43360|0.43360	-0.9396|-0.9396	5|10	.|0.02654	.|T	.|1	.|.	8.9965|8.9965	0.36055|0.36055	0.3303:0.0:0.5651:0.1046|0.3303:0.0:0.5651:0.1046	.|.	.|271;879;879;879	.|Q502W6-5;Q502W6;Q502W6-8;Q502W6-6	.|.;VWA3B_HUMAN;.;.	H|I	289|879	.|ENSP00000417955:V879I	.|ENSP00000417955:V879I	R|V	+|+	2|1	0|0	VWA3B|VWA3B	98219587|98219587	0.014000|0.014000	0.17966|0.17966	0.000000|0.000000	0.03702|0.03702	0.082000|0.082000	0.17680|0.17680	0.010000|0.010000	0.13242|0.13242	-1.438000|-1.438000	0.01965|0.01965	-0.218000|-0.218000	0.12543|0.12543	CGT|GTC	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353469.2		+	ENST00000477737.1	Missense_Mutation	SNP	2 : 98853155 - 98853155 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1091	160
DNAH12	201625	broad.mit.edu	37	3	57496520	57496520	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57496520A>G	ENST00000389536.4	-	5	646	c.466T>C	c.(466-468)Ttg>Ctg	p.L156L	DNAH12_ENST00000351747.2_Silent_p.L156L|DNAH12_ENST00000311202.6_Silent_p.L156L			Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	156	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TACTTACCCAAATATCTCTTC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	115	121			NA	NA	3		NA											NA				57496520		2203	4300	6503	SO:0001819	synonymous_variant			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844	201625	201625		Axonemal dyneins	2943	protein-coding gene	gene with protein product		603340	dynein, axonemal, heavy polypeptide 12, dynein heavy chain domain 2, dynein heavy domain 2, dynein, axonemal, heavy chain 12-like, dynein, axonemal, heavy chain 7-like	DNHD2, DNAH12L, DNAH7L	NA	8812413, 8666668	Standard	NM_178504	NM_198564	NA	Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000389536.4:c.466T>C	3.37:g.57496520A>G		NA	A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	37																																																																																				DNAH12-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000351433.1		-	ENST00000389536.4	Silent	SNP	3 : 57496520 - 57496520 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	335	50
CNOT1	23019	broad.mit.edu	37	16	58621318	58621318	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58621318C>T	ENST00000317147.5	-	5	642		c.e5-1		CNOT1_ENST00000441024.2_Splice_Site|CNOT1_ENST00000569240.1_Splice_Site	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	NA					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GCTTTAAACTCTGAAACAAAC	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	80	79			NA	NA	16		NA											NA				58621318		2198	4300	6498	SO:0001630	splice_region_variant			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107	23019	23019			7877	protein-coding gene	gene with protein product		604917		NOT1	NA	14702039	Standard	NM_016284	NM_016284	NA	Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.310-1G>A	16.37:g.58621318C>T		NA	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	37	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372153	0.82573	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6356	0.95731	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CNOT1	57178819	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.818000	0.86416	2.650000	0.89964	0.655000	0.94253	.	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257385.3	Intron	-	ENST00000317147.5	Splice_Site	SNP	16 : 58621318 - 58621318 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	383	67
TMEM132A	54972	broad.mit.edu	37	11	60696112	60696112	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60696112C>T	ENST00000005286.4	+	4	699	c.546C>T	c.(544-546)ggC>ggT	p.G182G	TMEM132A_ENST00000453848.2_Silent_p.G182G	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	182						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CATCCCTGGGCGCCTGCGTGG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	1,4317		0,1,2158	45	49	48		546,546	-5.8	0.9	11		48	0,8452		0,0,4226	no	coding-synonymous,coding-synonymous	TMEM132A	NM_017870.3,NM_178031.2	,	0,1,6384	TT,TC,CC	NA	0.0,0.0232,0.0078	,	182/1025,182/1024	60696112	1,12769	2159	4226	6385	SO:0001819	synonymous_variant			AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118	54972	54972			31092	protein-coding gene	gene with protein product			heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1	HSPA5BP1	NA	12514190, 10997877	Standard	NM_017870	NM_017870	NA	Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000005286.4:c.546C>T	11.37:g.60696112C>T		NA	Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	37	CCDS7997.1																																																																																			TMEM132A-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396353.1		+	ENST00000005286.4	Silent	SNP	11 : 60696112 - 60696112 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	664	48
EPHA7	2045	broad.mit.edu	37	6	93967929	93967929	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:93967929G>A	ENST00000369303.4	-	11	2182	c.1998C>T	c.(1996-1998)acC>acT	p.T666T		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	666	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CAACTTTCAGGGTTTTTATGG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	133	132			NA	NA	6		NA											NA				93967929		2203	4300	6503	SO:0001819	synonymous_variant			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333	2045	2045		EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3390	protein-coding gene	gene with protein product		602190	EphA7		NA	9267020	Standard		NM_004440	NA	Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1998C>T	6.37:g.93967929G>A		NA	A0AUX7|B2R8W1|B7ZLJ9|Q59G40|Q5VTU0|Q8N368|Q9H124	37	CCDS5031.1																																																																																			EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041545.1		-	ENST00000369303.4	Silent	SNP	6 : 93967929 - 93967929 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	686	141
ADCY10	55811	broad.mit.edu	37	1	167793999	167793999	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167793999A>T	ENST00000367848.1	-	27	4066	c.3569T>A	c.(3568-3570)aTc>aAc	p.I1190N	ADCY10_ENST00000367851.4_Missense_Mutation_p.I1282N|ADCY10_ENST00000545172.1_Missense_Mutation_p.I1129N			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1282					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GAGGTTGAAGATGTGCTCCAT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													205	196	199			NA	NA	1		NA											NA				167793999		2203	4300	6503	SO:0001583	missense			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	55811	55811	4.6.1.1	Adenylate cyclases	21285	protein-coding gene	gene with protein product	soluble adenylyl cyclase, Hypercalciuria, absorptive, 2	605205			NA		Standard	NM_018417	XM_006711449	NA	Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367848.1:c.3569T>A	1.37:g.167793999A>T	ENSP00000356822:p.Ile1190Asn	NA	O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	37		.	.	.	.	.	.	.	.	.	.	A	12.02	1.812902	0.32053	.	.	ENSG00000143199	ENST00000545172;ENST00000271426;ENST00000367851;ENST00000367848	T;T;T	0.31769	1.48;1.48;1.48	5.75	3.48	0.39840	.	0.620825	0.15231	N	0.273386	T	0.13670	0.0331	L	0.47716	1.5	0.28843	N	0.896489	P;P	0.48503	0.911;0.855	B;B	0.42422	0.387;0.216	T	0.07177	-1.0786	9	0.66056	D	0.02	-10.1174	6.5536	0.22448	0.8182:0.0:0.1818:0.0	.	1190;1282	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	N	1129;183;1282;1190	ENSP00000441992:I1129N;ENSP00000356825:I1282N;ENSP00000356822:I1190N	ENSP00000271426:I183N	I	-	2	0	ADCY10	166060623	0.016000	0.18221	0.052000	0.19188	0.540000	0.34992	1.456000	0.35201	1.021000	0.39600	0.533000	0.62120	ATC	ADCY10-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000083664.1		-	ENST00000367848.1	Missense_Mutation	SNP	1 : 167793999 - 167793999 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1069	184
NACC1	112939	broad.mit.edu	37	19	13246051	13246051	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13246051G>A	ENST00000292431.4	+	2	156	c.30G>A	c.(28-30)ccG>ccA	p.P10P		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	10					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						TGGAGATCCCGAACTTCGGCA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	39	41			NA	NA	19		NA											NA				13246051		2203	4300	6503	SO:0001819	synonymous_variant			AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877	112939	112939		BEN domain containing, BTB/POZ domain containing	20967	protein-coding gene	gene with protein product	nucleus accumbens associated 1, BEN domain containing 8	610672	BTB (POZ) domain containing 14B	BTBD14B	NA	12477932	Standard	NM_052876	NM_052876	NA	Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.30G>A	19.37:g.13246051G>A		NA		37	CCDS12294.1																																																																																			NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452879.1		+	ENST00000292431.4	Silent	SNP	19 : 13246051 - 13246051 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	236	41
DHX38	9785	broad.mit.edu	37	16	72138495	72138495	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72138495T>C	ENST00000268482.3	+	15	2630	c.2121T>C	c.(2119-2121)cgT>cgC	p.R707R	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	707					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				TCCCTGGCCGTACCTTCCCTG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(97;711 1442 7855 13832 28836)							NA				0													242	186	205			NA	NA	16		NA											NA				72138495		2198	4300	6498	SO:0001819	synonymous_variant			AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829	9785	9785		DEAH-boxes	17211	protein-coding gene	gene with protein product		605584	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38	DDX38	NA	9524131, 9039502	Standard	NM_014003	NM_014003	NA	Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.2121T>C	16.37:g.72138495T>C		NA	D3DWS7|O75212|Q96HN7	37	CCDS10907.1																																																																																			DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269004.3		+	ENST00000268482.3	Silent	SNP	16 : 72138495 - 72138495 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	787	160
PHKG1	5260	broad.mit.edu	37	7	56155447	56155447	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56155447G>A	ENST00000297373.2	-	3	300	c.106C>T	c.(106-108)Cga>Tga	p.R36*	PHKG1_ENST00000452681.2_Nonsense_Mutation_p.R36*|PHKG1_ENST00000489604.1_5'UTR|PHKG1_ENST00000537360.1_5'UTR	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	36	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGGATGCATCGCCTGACCACA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(184;580 2064 5329 24177 35303)							NA				0													57	47	50			NA	NA	7		NA											NA				56155447		2203	4300	6503	SO:0001587	stop_gained			X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	5260	5260	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG	NA	8530014	Standard	NM_006213	NM_001258459	NA	Approved		uc011kdb.2	Q16816	OTTHUMG00000023869	ENST00000297373.2:c.106C>T	7.37:g.56155447G>A	ENSP00000297373:p.Arg36*	NA	Q75LP5	37	CCDS5525.1	.	.	.	.	.	.	.	.	.	.	G	38	6.852304	0.97885	.	.	ENSG00000164776	ENST00000452681;ENST00000297373	.	.	.	5.42	4.53	0.55603	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-32.7593	15.1354	0.72562	0.0:0.0:0.858:0.142	.	.	.	.	X	36	.	ENSP00000297373:R36X	R	-	1	2	PHKG1	56122941	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.268000	0.51585	1.404000	0.46819	0.563000	0.77884	CGA	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251587.1		-	ENST00000297373.2	Nonsense_Mutation	SNP	7 : 56155447 - 56155447 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	68
GPR62	118442	broad.mit.edu	37	3	51990621	51990621	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51990621C>T	ENST00000322241.4	+	1	1292	c.953C>T	c.(952-954)cCg>cTg	p.P318L		NM_080865.3	NP_543141.3	Q9BZJ7	GPR62_HUMAN	G protein-coupled receptor 62	318						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCCTGCACTCCGCAAGCCTGG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	14	13			NA	NA	3		NA											NA				51990621		2166	4252	6418	SO:0001583	missense			AF317653	CCDS2838.1	3p21.1	2012-08-21			ENSG00000180929	ENSG00000180929	118442	118442		GPCR / Class A : Orphans	13301	protein-coding gene	gene with protein product		606917			NA	11165367	Standard		NM_080865	NA	Approved		uc003dca.4	Q9BZJ7	OTTHUMG00000157367	ENST00000322241.4:c.953C>T	3.37:g.51990621C>T	ENSP00000319250:p.Pro318Leu	NA	Q5KU27	37	CCDS2838.1	.	.	.	.	.	.	.	.	.	.	C	6.475	0.455750	0.12283	.	.	ENSG00000180929	ENST00000322241	T	0.03065	4.06	4.75	0.657	0.17850	.	0.597438	0.12512	U	0.462400	T	0.02807	0.0084	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48525	-0.9028	10	0.16420	T	0.52	-10.3083	7.1624	0.25671	0.0:0.5642:0.0:0.4358	.	318	Q9BZJ7	GPR62_HUMAN	L	318	ENSP00000319250:P318L	ENSP00000319250:P318L	P	+	2	0	GPR62	51965661	0.000000	0.05858	0.010000	0.14722	0.685000	0.39939	0.147000	0.16202	0.058000	0.16222	0.561000	0.74099	CCG	GPR62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348611.1		+	ENST00000322241.4	Missense_Mutation	SNP	3 : 51990621 - 51990621 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	220	58
EHD3	30845	broad.mit.edu	37	2	31489251	31489251	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31489251C>T	ENST00000322054.5	+	6	1574	c.1289C>T	c.(1288-1290)gCt>gTt	p.A430V	EHD3_ENST00000541626.1_3'UTR	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	430					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GGGGAGGGGGCTGGAGAAGGT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	68	71			NA	NA	2		NA											NA				31489251		2203	4300	6503	SO:0001583	missense			AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016	30845	30845		EF-hand domain containing	3244	protein-coding gene	gene with protein product		605891		PAST3	NA	10673336	Standard	NM_014600	NM_014600	NA	Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.1289C>T	2.37:g.31489251C>T	ENSP00000327116:p.Ala430Val	NA	D6W574|Q8N514|Q9NZB3	37	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140960	0.56936	.	.	ENSG00000013016	ENST00000322054	T	0.17691	2.26	5.84	5.84	0.93424	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.16769	0.0403	L	0.39020	1.185	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09907	-1.0653	10	0.15952	T	0.53	-19.4475	20.1432	0.98067	0.0:1.0:0.0:0.0	.	430	Q9NZN3	EHD3_HUMAN	V	430	ENSP00000327116:A430V	ENSP00000327116:A430V	A	+	2	0	EHD3	31342755	1.000000	0.71417	0.971000	0.41717	0.918000	0.54935	5.940000	0.70187	2.769000	0.95229	0.561000	0.74099	GCT	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216810.1		+	ENST00000322054.5	Missense_Mutation	SNP	2 : 31489251 - 31489251 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	223	21
RRM1	6240	broad.mit.edu	37	11	4128754	4128754	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4128754G>A	ENST00000300738.5	+	4	580	c.376G>A	c.(376-378)Gcc>Acc	p.A126T	RRM1_ENST00000423050.2_Missense_Mutation_p.A29T	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	126					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	TATTGTTCTGGCCAATAAAGA	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)							NA				0													84	87	86			NA	NA	11		NA											NA				4128754		2201	4297	6498	SO:0001583	missense			X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	6240	6240	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	ribonucleotide reductase M1 polypeptide		NA	7557993	Standard	NM_001033	NM_001033	NA	Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.376G>A	11.37:g.4128754G>A	ENSP00000300738:p.Ala126Thr	NA	Q9UNN2	37	CCDS7750.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764826	0.69878	.	.	ENSG00000167325	ENST00000300738;ENST00000423050	T;T	0.31510	1.49;1.52	6.07	5.17	0.71159	Ribonucleotide reductase R1 subunit, N-terminal (1);	0.048798	0.85682	D	0.000000	T	0.29976	0.0750	L	0.56340	1.77	0.80722	D	1	B	0.14012	0.009	B	0.09377	0.004	T	0.05354	-1.0890	9	.	.	.	-4.3347	14.2372	0.65934	0.0706:0.0:0.9294:0.0	.	126	P23921	RIR1_HUMAN	T	126;29	ENSP00000300738:A126T;ENSP00000390539:A29T	.	A	+	1	0	RRM1	4085330	1.000000	0.71417	0.996000	0.52242	0.957000	0.61999	9.091000	0.94151	1.582000	0.49881	0.655000	0.94253	GCC	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257197.1		+	ENST00000300738.5	Missense_Mutation	SNP	11 : 4128754 - 4128754 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	68
MYH6	4624	broad.mit.edu	37	14	23857491	23857491	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23857491G>A	ENST00000356287.3	-	29	4261	c.4232C>T	c.(4231-4233)gCc>gTc	p.A1411V	MYH6_ENST00000405093.3_Missense_Mutation_p.A1411V			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1411					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGAGCACTTGGCATTAACAGC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	107	108			NA	NA	14		NA											NA				23857491		2203	4300	6503	SO:0001583	missense			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616	4624	4624		Myosins / Myosin superfamily : Class II	7576	protein-coding gene	gene with protein product	cardiomyopathy, hypertrophic 1	160710	myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)		NA	2144212	Standard		NM_002471	NA	Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.4232C>T	14.37:g.23857491G>A	ENSP00000348634:p.Ala1411Val	NA	A2RTX1|Q13943|Q14906|Q14907	37	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	g	28.3	4.907586	0.92107	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.78816	-1.21;-1.21	4.64	4.64	0.57946	Myosin tail (1);	.	.	.	.	D	0.87822	0.6274	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.89631	0.3855	9	0.87932	D	0	.	17.8925	0.88877	0.0:0.0:1.0:0.0	.	1411	P13533	MYH6_HUMAN	V	1411	ENSP00000386041:A1411V;ENSP00000348634:A1411V	ENSP00000348634:A1411V	A	-	2	0	MYH6	22927331	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	9.441000	0.97557	2.292000	0.77174	0.561000	0.74099	GCC	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071796.3		-	ENST00000356287.3	Missense_Mutation	SNP	14 : 23857491 - 23857491 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	616	136
CLASRP	11129	broad.mit.edu	37	19	45556400	45556400	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45556400G>A	ENST00000544944.2	+	4	1036	c.344G>A	c.(343-345)cGc>cAc	p.R115H	CLASRP_ENST00000221455.3_Missense_Mutation_p.R115H|CLASRP_ENST00000391953.4_Missense_Mutation_p.R53H			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	115					mRNA processing|RNA splicing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						AACTACGAGCGCTACAGAGGC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	72	77			NA	NA	19		NA											NA				45556400		2203	4300	6503	SO:0001583	missense			AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859	11129	11129			17731	protein-coding gene	gene with protein product	Clk4 associating SR-related protein		splicing factor, arginine/serine-rich 16	SFRS16	NA	12169693	Standard	NM_007056	NM_007056	NA	Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000544944.2:c.344G>A	19.37:g.45556400G>A	ENSP00000438702:p.Arg115His	NA	O96026|Q6UW71|Q96DX2	37		.	.	.	.	.	.	.	.	.	.	G	25.2	4.616780	0.87359	.	.	ENSG00000104859	ENST00000221455;ENST00000391952;ENST00000391953;ENST00000544944	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	4.67	4.67	0.58626	Splicing factor, suppressor of white apricot (1);	0.000000	0.35772	U	0.002990	T	0.68668	0.3026	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.927;0.999;1.0	T	0.75342	-0.3351	10	0.87932	D	0	-16.5576	15.1245	0.72472	0.0:0.0:1.0:0.0	.	53;115;115	F8WAG9;F5H0Q6;Q8N2M8	.;.;CLASR_HUMAN	H	115;115;53;115	ENSP00000221455:R115H;ENSP00000375814:R115H;ENSP00000375815:R53H;ENSP00000438702:R115H	ENSP00000221455:R115H	R	+	2	0	CLASRP	50248240	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	9.230000	0.95299	2.431000	0.82371	0.591000	0.81541	CGC	CLASRP-004	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000453285.1		+	ENST00000544944.2	Missense_Mutation	SNP	19 : 45556400 - 45556400 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	378	59
WFDC1	58189	broad.mit.edu	37	16	84353101	84353101	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84353101C>T	ENST00000219454.5	+	4	812	c.486C>T	c.(484-486)tgC>tgT	p.C162C	WFDC1_ENST00000568638.1_Silent_p.C162C	NM_001282466.1|NM_001282467.1	NP_001269395.1|NP_001269396.1	Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1	162					negative regulation of cell growth	extracellular space	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						GCTATGAGTGCCACATCCTGA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	65	72			NA	NA	16		NA											NA				84353101		2200	4300	6500	SO:0001819	synonymous_variant			AF302109	CCDS10946.1	16q24.1	2013-01-21			ENSG00000103175	ENSG00000103175	58189	58189		WAP four-disulfide core domain containing	15466	protein-coding gene	gene with protein product		605322			NA	10967136	Standard		NM_021197	NA	Approved	PS20	uc002fhw.3	Q9HC57	OTTHUMG00000137641	ENST00000219454.5:c.486C>T	16.37:g.84353101C>T		NA	D3DUL7|Q8NC27|Q9HAU1	37	CCDS10946.1																																																																																			WFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269083.2		+	ENST00000219454.5	Silent	SNP	16 : 84353101 - 84353101 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	104
SLCO1B1	10599	broad.mit.edu	37	12	21355541	21355541	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21355541T>C	ENST00000256958.2	+	10	1348	c.1252T>C	c.(1252-1254)Tca>Cca	p.S418P		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	418					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TGCTGTGATGTCATTGTCCTT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	84	86			NA	NA	12		NA											NA				21355541		2203	4296	6499	SO:0001583	missense				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538	10599	10599		Solute carriers	10959	protein-coding gene	gene with protein product		604843	solute carrier family 21 (organic anion transporter), member 6	SLC21A6	NA	10358072	Standard	NM_006446	NM_006446	NA	Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1252T>C	12.37:g.21355541T>C	ENSP00000256958:p.Ser418Pro	NA	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	37	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	T	13.68	2.309843	0.40895	.	.	ENSG00000134538	ENST00000256958	T	0.60040	0.22	2.96	-5.92	0.02261	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.033120	0.07725	N	0.944329	T	0.69611	0.3130	M	0.75447	2.3	0.09310	N	1	P	0.38335	0.627	P	0.62649	0.905	T	0.70568	-0.4836	10	0.59425	D	0.04	.	5.6126	0.17414	0.4594:0.0:0.3794:0.1612	.	418	Q9Y6L6	SO1B1_HUMAN	P	418	ENSP00000256958:S418P	ENSP00000256958:S418P	S	+	1	0	SLCO1B1	21246808	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.081000	0.03403	-1.656000	0.01495	0.254000	0.18369	TCA	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402070.1		+	ENST00000256958.2	Missense_Mutation	SNP	12 : 21355541 - 21355541 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	258	58
PML	5371	broad.mit.edu	37	15	74315645	74315645	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74315645G>A	ENST00000565898.1	+	3	1163	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H	PML_ENST00000395132.2_Missense_Mutation_p.R360H|PML_ENST00000354026.6_Missense_Mutation_p.R360H|PML_ENST00000563500.1_Missense_Mutation_p.R360H|PML_ENST00000435786.2_Missense_Mutation_p.R360H|PML_ENST00000359928.4_Missense_Mutation_p.R360H|PML_ENST00000564428.1_Missense_Mutation_p.R360H|PML_ENST00000569477.1_Missense_Mutation_p.R360H|PML_ENST00000567543.1_Missense_Mutation_p.R360H|PML_ENST00000436891.3_Missense_Mutation_p.R360H|PML_ENST00000569965.1_Missense_Mutation_p.R360H|PML_ENST00000569161.1_3'UTR|PML_ENST00000268058.3_Missense_Mutation_p.R360H|PML_ENST00000268059.6_Missense_Mutation_p.R360H|PML_ENST00000395135.3_Missense_Mutation_p.R360H			P29590	PML_HUMAN	promyelocytic leukemia	360					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						TGCCGCCTGCGCCAGGAGGAG	0.677		NA	T	RARA, PAX5	APL, ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0								G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4368		0,0,2184	23	26	25		1079,1079,1079,1079,1079,1079,1079,1079,1079	2.6	0.9	15		25	1,8539		0,1,4269	no	missense,missense,missense,missense,missense,missense,missense,missense,missense	PML	NM_002675.3,NM_033238.2,NM_033239.2,NM_033240.2,NM_033244.3,NM_033246.2,NM_033247.2,NM_033249.2,NM_033250.2	29,29,29,29,29,29,29,29,29	0,1,6453	AA,AG,GG	NA	0.0117,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	360/634,360/883,360/830,360/612,360/561,360/424,360/436,360/586,360/782	74315645	1,12907	2184	4270	6454	SO:0001583	missense			AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464	5371	5371		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	9113	protein-coding gene	gene with protein product		102578			NA		Standard	NM_002675	NM_033244	NA	Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000565898.1:c.1079G>A	15.37:g.74315645G>A	ENSP00000455838:p.Arg360His	NA	P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	37		.	.	.	.	.	.	.	.	.	.	G	12.63	1.996970	0.35226	0.0	1.17E-4	ENSG00000140464	ENST00000395135;ENST00000435786;ENST00000359928;ENST00000436891;ENST00000268058;ENST00000395132;ENST00000268059;ENST00000354026;ENST00000418568	T	0.48201	0.82	4.53	2.61	0.31194	.	0.685983	0.13244	N	0.402604	T	0.59252	0.2180	L	0.59436	1.845	0.20196	N	0.999927	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.991;0.999;0.998;0.999;0.996;0.999;1.0;0.999;0.999;0.998;0.999;0.998	D;P;D;P;P;P;D;D;P;D;P;D;P	0.68621	0.949;0.775;0.959;0.877;0.9;0.899;0.91;0.923;0.868;0.931;0.799;0.909;0.89	T	0.42965	-0.9420	10	0.62326	D	0.03	-17.2149	7.2127	0.25943	0.209:0.0:0.791:0.0	.	360;310;360;360;360;360;360;360;360;360;360;360;363	P29590-3;Q59GQ8;P29590;P29590-11;P29590-12;P29590-5;E9PBR7;P29590-13;P29590-4;P29590-2;P29590-14;P29590-8;Q59H09	.;.;PML_HUMAN;.;.;.;.;.;.;.;.;.;.	H	360	ENSP00000268058:R360H	ENSP00000268058:R360H	R	+	2	0	PML	72102698	0.369000	0.25039	0.944000	0.38274	0.040000	0.13550	1.448000	0.35112	1.136000	0.42199	-0.379000	0.06801	CGC	PML-005	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000421816.1		+	ENST00000565898.1	Missense_Mutation	SNP	15 : 74315645 - 74315645 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	291	12
ATRN	8455	broad.mit.edu	37	20	3564588	3564588	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3564588G>T	ENST00000262919.5	+	17	2876	c.2808G>T	c.(2806-2808)agG>agT	p.R936S	ATRN_ENST00000446916.2_Missense_Mutation_p.R936S	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	936	PSI 3.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GTGCCTTGAGGACAGCATGTG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													268	229	242			NA	NA	20		NA											NA				3564588		2203	4300	6503	SO:0001583	missense			AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812	8455	8455			885	protein-coding gene	gene with protein product	mahogany protein	603130			NA	9736737, 8596018	Standard	NM_139321	NM_139321	NA	Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.2808G>T	20.37:g.3564588G>T	ENSP00000262919:p.Arg936Ser	NA	A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	37	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.455521	0.63401	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.17054	3.24;2.3	5.64	2.66	0.31614	.	0.047709	0.85682	D	0.000000	T	0.33585	0.0868	M	0.69463	2.115	0.53688	D	0.999976	P;D	0.89917	0.757;1.0	B;D	0.83275	0.155;0.996	T	0.02031	-1.1226	10	0.31617	T	0.26	-17.2408	8.0937	0.30816	0.1629:0.117:0.7201:0.0	.	936;936	O75882;O75882-2	ATRN_HUMAN;.	S	936;936;862	ENSP00000262919:R936S;ENSP00000416587:R936S	ENSP00000262919:R936S	R	+	3	2	ATRN	3512588	0.999000	0.42202	0.978000	0.43139	0.990000	0.78478	0.881000	0.28173	0.331000	0.23511	0.585000	0.79938	AGG	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077740.2		+	ENST00000262919.5	Missense_Mutation	SNP	20 : 3564588 - 3564588 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1058	196
KIAA1217	56243	broad.mit.edu	37	10	24508579	24508579	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24508579T>C	ENST00000376454.3	+	2	125	c.95T>C	c.(94-96)gTa>gCa	p.V32A	KIAA1217_ENST00000458595.1_Missense_Mutation_p.V32A|KIAA1217_ENST00000376462.1_5'UTR|KIAA1217_ENST00000376452.3_Missense_Mutation_p.V32A	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	32					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AATCTGCATGTAACATCACCA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	52	55			NA	NA	10		NA											NA				24508579		2203	4300	6503	SO:0001583	missense			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549	56243	56243			25428	protein-coding gene	gene with protein product	sickle tail				NA	10574462	Standard	NM_019590	XM_005252500	NA	Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.95T>C	10.37:g.24508579T>C	ENSP00000365637:p.Val32Ala	NA	A5LHW9|A6PVQ5|A6PVQ6|A6PVQ7|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	37	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	T	11.66	1.706174	0.30232	.	.	ENSG00000120549	ENST00000376456;ENST00000458595;ENST00000376454;ENST00000376452	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.87	3.52	0.40303	.	0.362629	0.20046	N	0.100403	T	0.43077	0.1231	L	0.34521	1.04	0.27381	N	0.955423	B;B;B;B	0.18310	0.003;0.001;0.027;0.003	B;B;B;B	0.16289	0.015;0.007;0.015;0.009	T	0.30765	-0.9967	10	0.05833	T	0.94	.	8.2229	0.31552	0.0:0.0671:0.3822:0.5507	.	32;32;32;32	Q5T5P2-7;A6NLF3;Q5T5P2;Q5T5P2-2	.;.;SKT_HUMAN;.	A	32	ENSP00000365639:V32A;ENSP00000392625:V32A;ENSP00000365637:V32A;ENSP00000365635:V32A	ENSP00000365635:V32A	V	+	2	0	KIAA1217	24548585	0.998000	0.40836	0.329000	0.25429	0.565000	0.35776	2.851000	0.48302	0.476000	0.27440	0.533000	0.62120	GTA	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047223.2		+	ENST00000376454.3	Missense_Mutation	SNP	10 : 24508579 - 24508579 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	159	33
ROR2	4920	broad.mit.edu	37	9	94486500	94486500	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:94486500G>A	ENST00000375708.3	-	9	2474	c.2276C>T	c.(2275-2277)gCg>gTg	p.A759V	ROR2_ENST00000375715.1_Missense_Mutation_p.A619V|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	759	Ser/Thr-rich.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CGAGGTCTGCGCCGAGCTGTT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	54	53			NA	NA	9		NA											NA				94486500		2203	4300	6503	SO:0001583	missense			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071	4920	4920		Immunoglobulin superfamily / I-set domain containing	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1	NA	1334494, 10700182	Standard		NM_004560	NA	Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2276C>T	9.37:g.94486500G>A	ENSP00000364860:p.Ala759Val	NA	Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	37	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.712035	0.30322	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	T;T	0.78126	-1.11;-1.15	4.65	3.75	0.43078	.	0.000000	0.41823	D	0.000803	T	0.79718	0.4494	L	0.27053	0.805	0.45791	D	0.998677	D;P	0.89917	1.0;0.932	D;B	0.75484	0.986;0.186	T	0.76631	-0.2888	10	0.24483	T	0.36	.	15.0704	0.72030	0.0:0.142:0.858:0.0	.	759;619	Q01974;B1APY4	ROR2_HUMAN;.	V	619;759	ENSP00000364867:A619V;ENSP00000364860:A759V	ENSP00000364860:A759V	A	-	2	0	ROR2	93526321	0.954000	0.32549	0.971000	0.41717	0.674000	0.39518	3.769000	0.55303	1.173000	0.42796	0.561000	0.74099	GCG	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053040.1		-	ENST00000375708.3	Missense_Mutation	SNP	9 : 94486500 - 94486500 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	502	77
C10orf12	26148	broad.mit.edu	37	10	98744054	98744054	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98744054C>T	ENST00000286067.2	+	1	3014	c.2907C>T	c.(2905-2907)ggC>ggT	p.G969G		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	969										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TCAGCCCCGGCCCTAATTCTG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	85	82			NA	NA	10		NA											NA				98744054		2203	4298	6501	SO:0001819	synonymous_variant			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640	26148	26148			23420	protein-coding gene	gene with protein product					NA	24550272	Standard	NM_015652	NM_015652	NA	Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.2907C>T	10.37:g.98744054C>T		NA	Q9H945|Q9Y457	37	CCDS7452.1																																																																																			C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049627.1		+	ENST00000286067.2	Silent	SNP	10 : 98744054 - 98744054 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	715	118
ITPR3	3710	broad.mit.edu	37	6	33634963	33634963	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33634963C>T	ENST00000374316.5	+	16	2669	c.1609C>T	c.(1609-1611)Cgg>Tgg	p.R537W	ITPR3_ENST00000605930.1_Missense_Mutation_p.R537W			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	537					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TCCCCTGGTGCGGCTGGAGGA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	77	79			NA	NA	6		NA											NA				33634963		2203	4300	6503	SO:0001583	missense			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433	3710	3710		Ion channels / Inositol triphosphate receptors	6182	protein-coding gene	gene with protein product		147267	inositol 1,4,5-triphosphate receptor, type 3		NA	8081734, 8288584	Standard	NM_002224	NM_002224	NA	Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.1609C>T	6.37:g.33634963C>T	ENSP00000363435:p.Arg537Trp	NA	Q14649|Q5TAQ2	37	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768538	0.69878	.	.	ENSG00000096433	ENST00000374316	D	0.90004	-2.6	4.51	3.48	0.39840	Intracellular calcium-release channel (1);	0.066556	0.56097	D	0.000023	D	0.93070	0.7794	M	0.80982	2.52	0.40864	D	0.983853	D	0.76494	0.999	D	0.73380	0.98	D	0.93942	0.7224	10	0.87932	D	0	-33.5454	14.6107	0.68514	0.2219:0.7781:0.0:0.0	.	537	Q14573	ITPR3_HUMAN	W	537	ENSP00000363435:R537W	ENSP00000363435:R537W	R	+	1	2	ITPR3	33742941	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	1.483000	0.35497	2.222000	0.72286	0.462000	0.41574	CGG	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040204.2		+	ENST00000374316.5	Missense_Mutation	SNP	6 : 33634963 - 33634963 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	509	83
C20orf27	54976	broad.mit.edu	37	20	3735096	3735096	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3735096G>A	ENST00000379772.3	-	5	1182	c.372C>T	c.(370-372)tgC>tgT	p.C124C	C20orf27_ENST00000217195.8_Silent_p.C149C	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN	chromosome 20 open reading frame 27	124										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						TGCCACCTTCGCAGGCTAGCA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	105	113			NA	NA	20		NA											NA				3735096		2203	4300	6503	SO:0001819	synonymous_variant			AK000557	CCDS33436.1, CCDS58763.1	20p13	2011-01-25			ENSG00000101220	ENSG00000101220	54976	54976			15873	protein-coding gene	gene with protein product	hypothetical protein LOC54976				NA	11780052	Standard	NM_001039140	NM_001258429	NA	Approved	FLJ20550	uc002wjh.2	Q9GZN8	OTTHUMG00000031753	ENST00000379772.3:c.372C>T	20.37:g.3735096G>A		NA	A8K4J0|D3DVX8|Q5JX81|Q9NWX3	37	CCDS58763.1																																																																																			C20orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077750.2		-	ENST00000379772.3	Silent	SNP	20 : 3735096 - 3735096 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	644	110
NPFF	8620	broad.mit.edu	37	12	53901208	53901208	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53901208G>A	ENST00000267017.3	-	1	214	c.51C>T	c.(49-51)gaC>gaT	p.D17D	RP11-793H13.10_ENST00000591834.1_Intron|NPFF_ENST00000609999.1_De_novo_Start_OutOfFrame	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor	17					neuropeptide signaling pathway|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						CACAGCCCCCGTCTATTAACA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4405	2.1+/-5.4	0,1,2202	104	93	97		51	1.7	0	12		97	0,8600		0,0,4300	no	coding-synonymous	NPFF	NM_003717.2		0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077		17/114	53901208	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574	8620	8620		Endogenous ligands	7901	protein-coding gene	gene with protein product		604643			NA	9224703	Standard	NM_003717	NM_003717	NA	Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856	ENST00000267017.3:c.51C>T	12.37:g.53901208G>A		NA		37	CCDS8862.1																																																																																			NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406301.1		-	ENST00000267017.3	Silent	SNP	12 : 53901208 - 53901208 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	73
FAM166B	730112	broad.mit.edu	37	9	35563812	35563812	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35563812C>A	ENST00000399742.2	-	1	84	c.14G>T	c.(13-15)aGc>aTc	p.S5I	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	5										kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						TATGAAGGTGCTGGCCACAGC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	89	87			NA	NA	9		NA											NA				35563812		1922	4140	6062	SO:0001583	missense			BC129999	CCDS47963.1, CCDS56572.1	9p13.3	2008-06-10			ENSG00000215187	ENSG00000215187	730112	730112			34242	protein-coding gene	gene with protein product					NA		Standard	NM_001099951	NM_001099951	NA	Approved		uc010mkr.3	A8MTA8	OTTHUMG00000019858	ENST00000399742.2:c.14G>T	9.37:g.35563812C>A	ENSP00000382646:p.Ser5Ile	NA	A1L3B2|B7ZBJ0	37	CCDS56572.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.292916	0.60086	.	.	ENSG00000215187	ENST00000399742;ENST00000537504	.	.	.	5.4	3.53	0.40419	.	0.689568	0.11534	U	0.554378	T	0.40423	0.1116	N	0.22421	0.69	0.24533	N	0.994109	D;D;P;D	0.67145	0.981;0.996;0.483;0.996	P;P;B;D	0.63877	0.77;0.853;0.163;0.919	T	0.16364	-1.0405	9	0.59425	D	0.04	-5.9631	6.9594	0.24590	0.0:0.7324:0.176:0.0917	.	5;5;5;5	B7ZW33;B7ZW26;A8MTA8;A8MTA8-2	.;.;F166B_HUMAN;.	I	5	.	ENSP00000382646:S5I	S	-	2	0	FAM166B	35553812	1.000000	0.71417	0.998000	0.56505	0.694000	0.40290	1.156000	0.31712	0.808000	0.34231	0.650000	0.86243	AGC	FAM166B-005	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336563.1		-	ENST00000399742.2	Missense_Mutation	SNP	9 : 35563812 - 35563812 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	242	16
CHRNB4	1143	broad.mit.edu	37	15	78921496	78921496	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78921496C>A	ENST00000412074.2	-	4	471				CHRNB4_ENST00000261751.3_Missense_Mutation_p.G384V	NM_001256567.1	NP_001243496.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	NA					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						CATGGAGTTCCCATAGAAGTT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	54	54			NA	NA	15		NA											NA				78921496		2196	4293	6489	SO:0001627	intron_variant			U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971	1143	1143		Cholinergic receptors, Ligand-gated ion channels / Acetylcholine receptors, nicotinic	1964	protein-coding gene	gene with protein product	acetylcholine receptor, nicotinic, beta 4 (neuronal)	118509	cholinergic receptor, nicotinic, beta polypeptide 4		NA	2004777	Standard		NM_000750	NA	Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000412074.2:c.359+1921G>T	15.37:g.78921496C>A		NA	Q16607|Q4VBA5|Q8WXC8|Q9BQR4	37	CCDS58392.1	.	.	.	.	.	.	.	.	.	.	C	4.005	-0.001711	0.07819	.	.	ENSG00000117971	ENST00000261751	T	0.69926	-0.44	5.3	0.0871	0.14449	Neurotransmitter-gated ion-channel transmembrane domain (2);	.	.	.	.	T	0.56717	0.2004	M	0.62088	1.915	0.30273	N	0.792051	B	0.14805	0.011	B	0.21151	0.033	T	0.50303	-0.8844	9	0.25751	T	0.34	.	4.6321	0.12507	0.0:0.3665:0.1614:0.4721	.	384	P30926	ACHB4_HUMAN	V	384	ENSP00000261751:G384V	ENSP00000261751:G384V	G	-	2	0	CHRNB4	76708551	0.000000	0.05858	0.060000	0.19600	0.122000	0.20287	0.259000	0.18405	0.231000	0.21079	-0.136000	0.14681	GGG	CHRNB4-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418869.1		-	ENST00000412074.2	Intron	SNP	15 : 78921496 - 78921496 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	204	46
BTBD10	84280	broad.mit.edu	37	11	13438716	13438716	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:13438716G>A	ENST00000530907.1	-	4	970	c.700C>T	c.(700-702)Cga>Tga	p.R234*	BTBD10_ENST00000528120.1_Nonsense_Mutation_p.R178*|BTBD10_ENST00000278174.5_Nonsense_Mutation_p.R226*			Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	226	BTB.					nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		AGAATCGCTCGAAACACAGTG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													235	208	217			NA	NA	11		NA											NA				13438716		2200	4294	6494	SO:0001587	stop_gained			AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925	84280	84280		BTB/POZ domain containing	21445	protein-coding gene	gene with protein product		615933			NA	15556295	Standard	NM_032320	XM_005253164	NA	Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000530907.1:c.700C>T	11.37:g.13438716G>A	ENSP00000431186:p.Arg234*	NA	Q86WG1	37		.	.	.	.	.	.	.	.	.	.	G	40	7.961995	0.98583	.	.	ENSG00000148925	ENST00000278174;ENST00000530907;ENST00000528120	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.662	19.8331	0.96643	0.0:0.0:1.0:0.0	.	.	.	.	X	226;234;178	.	ENSP00000278174:R226X	R	-	1	2	BTBD10	13395292	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.607000	0.54102	2.779000	0.95612	0.650000	0.86243	CGA	BTBD10-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000386202.1		-	ENST00000530907.1	Nonsense_Mutation	SNP	11 : 13438716 - 13438716 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	783	149
PIK3C2G	5288	broad.mit.edu	37	12	18544112	18544112	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:18544112A>G	ENST00000266497.5	+	13	1967	c.1929A>G	c.(1927-1929)agA>agG	p.R643R	PIK3C2G_ENST00000538779.1_Silent_p.R684R|PIK3C2G_ENST00000433979.1_Silent_p.R643R			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	643					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AAGAGAATAGAAGTAATCTTG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	63	64			NA	NA	12		NA											NA				18544112		1819	4083	5902	SO:0001819	synonymous_variant			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	5288	5288	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	phosphoinositide-3-kinase, class 2, gamma polypeptide		NA	9878262	Standard	NM_004570	XM_005253393	NA	Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.1929A>G	12.37:g.18544112A>G		NA	A1L3U0	37	CCDS44839.1																																																																																			PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401316.1		+	ENST00000266497.5	Silent	SNP	12 : 18544112 - 18544112 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	180	23
GTF2F1	2962	broad.mit.edu	37	19	6389591	6389591	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6389591C>T	ENST00000394456.5	-	4	654	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	CTB-180A7.6_ENST00000599584.1_RNA|GTF2F1_ENST00000429701.2_Missense_Mutation_p.E36K	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	64					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						GCGCCCGATTCGGGCATCTCC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	137	135			NA	NA	19		NA											NA				6389591		2203	4300	6503	SO:0001583	missense				CCDS12165.1	19p13.3	2010-03-23	2002-08-29		ENSG00000125651	ENSG00000125651	2962	2962		General transcription factors	4652	protein-coding gene	gene with protein product		189968	general transcription factor IIF, polypeptide 1 (74kD subunit)		NA	1734284	Standard	NM_002096	NM_002096	NA	Approved	TFIIF, BTF4, RAP74, TF2F1	uc002meq.2	P35269	OTTHUMG00000168087	ENST00000394456.5:c.190G>A	19.37:g.6389591C>T	ENSP00000377969:p.Glu64Lys	NA	B2RCS0|Q9BWN0	37	CCDS12165.1	.	.	.	.	.	.	.	.	.	.	C	9.210	1.030796	0.19590	.	.	ENSG00000125651	ENST00000394456;ENST00000429701;ENST00000542045;ENST00000543921;ENST00000541263	T;T	0.46451	0.87;0.87	5.43	4.39	0.52855	Transcription Factor IIF, Rap30/Rap74, interaction (1);	0.053321	0.64402	D	0.000001	T	0.40247	0.1109	L	0.39514	1.22	0.58432	D	0.999998	B;B	0.34329	0.121;0.449	B;B	0.41571	0.051;0.36	T	0.12811	-1.0533	10	0.19590	T	0.45	-44.0396	15.1046	0.72310	0.0:0.8573:0.1427:0.0	.	36;64	E7EUG6;P35269	.;T2FA_HUMAN	K	64;36;124;37;64	ENSP00000377969:E64K;ENSP00000392107:E36K	ENSP00000377969:E64K	E	-	1	0	GTF2F1	6340591	1.000000	0.71417	0.826000	0.32828	0.013000	0.08279	5.432000	0.66514	1.283000	0.44513	-0.176000	0.13171	GAA	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398033.1		-	ENST00000394456.5	Missense_Mutation	SNP	19 : 6389591 - 6389591 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1179	115
CCL24	6369	broad.mit.edu	37	7	75441154	75441154	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75441154C>T	ENST00000416943.1	-	4	413	c.320G>A	c.(319-321)gGc>gAc	p.G107D	CCL24_ENST00000222902.2_Missense_Mutation_p.G107D	NM_002991.2	NP_002982.2	O00175	CCL24_HUMAN	chemokine (C-C motif) ligand 24	107					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity			endometrium(1)|lung(2)	3						CTGGACAGGGCCCTTGACAGC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	69	73			NA	NA	7		NA											NA				75441154		2203	4300	6503	SO:0001583	missense			U85768	CCDS34670.1	7q11.23	2013-02-25	2002-08-22	2002-08-23	ENSG00000106178	ENSG00000106178	6369	6369		Chemokine ligands, Endogenous ligands	10623	protein-coding gene	gene with protein product	CK-beta-6, myeloid progenitor inhibitory factor 2, eotaxin-2	602495	small inducible cytokine subfamily A (Cys-Cys), member 24	SCYA24	NA	9104803, 9598329	Standard	NM_002991	NM_002991	NA	Approved	Ckb-6, MPIF-2, eotaxin-2, MPIF2	uc011kga.2	O00175	OTTHUMG00000156635	ENST00000416943.1:c.320G>A	7.37:g.75441154C>T	ENSP00000400533:p.Gly107Asp	NA	B2R5K2	37	CCDS34670.1	.	.	.	.	.	.	.	.	.	.	C	7.968	0.748531	0.15710	.	.	ENSG00000106178	ENST00000222902;ENST00000416943	T;T	0.03889	3.77;3.77	3.62	-4.49	0.03504	Chemokine interleukin-8-like domain (1);	2.562570	0.01641	N	0.024070	T	0.02888	0.0086	N	0.14661	0.345	0.09310	N	1	B	0.30361	0.277	B	0.20384	0.029	T	0.36841	-0.9731	10	0.42905	T	0.14	.	5.6435	0.17577	0.3951:0.1633:0.4416:0.0	.	107	O00175	CCL24_HUMAN	D	107	ENSP00000222902:G107D;ENSP00000400533:G107D	ENSP00000222902:G107D	G	-	2	0	CCL24	75279090	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.177000	0.09796	-0.929000	0.03757	-0.425000	0.05940	GGC	CCL24-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344886.1		-	ENST00000416943.1	Missense_Mutation	SNP	7 : 75441154 - 75441154 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	36
CCDC37	348807	broad.mit.edu	37	3	126138953	126138953	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126138953G>T	ENST00000393425.1	+	11	1065	c.966G>T	c.(964-966)caG>caT	p.Q322H	CCDC37_ENST00000352312.1_Missense_Mutation_p.Q321H|CCDC37_ENST00000505024.1_Missense_Mutation_p.Q322H			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	321										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		CAGAGGGTCAGGGTACAAAGA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	30	30			NA	NA	3		NA											NA				126138953		2203	4299	6502	SO:0001583	missense			AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885	348807	348807			26842	protein-coding gene	gene with protein product					NA	23569216	Standard	NM_182628	NM_182628	NA	Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000393425.1:c.966G>T	3.37:g.126138953G>T	ENSP00000377076:p.Gln322His	NA	D3DNA8|Q494V1|Q494V4|Q8N838	37		.	.	.	.	.	.	.	.	.	.	G	7.042	0.562646	0.13498	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.32753	1.44;1.44;1.44	3.37	-2.18	0.07037	.	1.302360	0.05056	N	0.479042	T	0.16938	0.0407	N	0.22421	0.69	0.09310	N	1	B;B	0.32425	0.371;0.254	B;B	0.24701	0.055;0.025	T	0.16867	-1.0388	10	0.46703	T	0.11	-3.6099	3.9837	0.09506	0.3427:0.3519:0.3054:0.0	.	322;321	Q494V2-2;Q494V2	.;CCD37_HUMAN	H	321;322;322	ENSP00000344749:Q321H;ENSP00000377076:Q322H;ENSP00000423046:Q322H	ENSP00000344749:Q321H	Q	+	3	2	CCDC37	127621643	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.407000	0.07178	-0.500000	0.06614	0.491000	0.48974	CAG	CCDC37-201	KNOWN	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding			+	ENST00000393425.1	Missense_Mutation	SNP	3 : 126138953 - 126138953 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	193	41
ZNF142	7701	broad.mit.edu	37	2	219506771	219506771	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219506771C>T	ENST00000449707.1	-	8	4889	c.4468G>A	c.(4468-4470)Gct>Act	p.A1490T	ZNF142_ENST00000411696.2_Missense_Mutation_p.A1490T	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1490					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GAGGGATCAGCACAGGCATAG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(170;867 1942 8995 15834 18053)							NA				0													95	98	97			NA	NA	2		NA											NA				219506771		2158	4273	6431	SO:0001583	missense			U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568	7701	7701		Zinc fingers, C2H2-type	12927	protein-coding gene	gene with protein product		604083	zinc finger protein 142 (clone pHZ-49)		NA		Standard	NM_005081	NM_001105537	NA	Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.4468G>A	2.37:g.219506771C>T	ENSP00000408643:p.Ala1490Thr	NA	Q92510	37	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	c	20.8	4.048747	0.75846	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.14516	2.5;2.5	5.62	5.62	0.85841	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.148988	0.64402	D	0.000010	T	0.18759	0.0450	N	0.04669	-0.19	0.47009	D	0.999286	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.41520	-0.9504	10	0.22109	T	0.4	-17.3075	19.8797	0.96891	0.0:1.0:0.0:0.0	.	1490;1327	P52746;A8MWU9	ZN142_HUMAN;.	T	1490	ENSP00000408643:A1490T;ENSP00000398798:A1490T	ENSP00000398798:A1490T	A	-	1	0	ZNF142	219215015	0.981000	0.34729	1.000000	0.80357	0.924000	0.55760	2.299000	0.43611	2.933000	0.99390	0.645000	0.84053	GCT	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336833.1		-	ENST00000449707.1	Missense_Mutation	SNP	2 : 219506771 - 219506771 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	470	118
MAST4	375449	broad.mit.edu	37	5	66461935	66461935	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66461935C>T	ENST00000403625.2	+	29	7223	c.6928C>T	c.(6928-6930)Cca>Tca	p.P2310S	MAST4_ENST00000403666.1_Missense_Mutation_p.P2121S|MAST4_ENST00000261569.7_Missense_Mutation_p.P2116S|MAST4_ENST00000405643.1_Missense_Mutation_p.P2131S|MAST4_ENST00000404260.3_Missense_Mutation_p.P2313S	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2313						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCCGGGACACCCAGGGCCTAG	0.602		NA									OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	28	26			NA	NA	5		NA											NA				66461935		1943	4128	6071	SO:0001583	missense			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020	375449	375449			19037	protein-coding gene	gene with protein product					NA	9205841	Standard		NM_198828	NA	Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.6928C>T	5.37:g.66461935C>T	ENSP00000385727:p.Pro2310Ser	1092	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	37	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.32|10.32	1.318213|1.318213	0.23994|0.23994	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000443808|ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	.|T;T;T;T;T	.|0.64991	.|-0.1;-0.1;-0.13;-0.12;-0.1	4.62|4.62	2.66|2.66	0.31614|0.31614	.|.	0.910882|0.910882	0.09254|0.09254	N|N	0.827460|0.827460	T|T	0.41166|0.41166	0.1147|0.1147	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|B;B	.|0.25272	.|0.075;0.122	.|B;B	.|0.25291	.|0.027;0.059	T|T	0.29671|0.29671	-1.0004|-1.0004	6|10	.|0.15066	.|T	.|0.55	0.1795|0.1795	2.4979|2.4979	0.04626|0.04626	0.2633:0.4739:0.1624:0.1004|0.2633:0.4739:0.1624:0.1004	.|.	.|2313;2121	.|O15021;O15021-3	.|MAST4_HUMAN;.	L|S	1366|2313;2310;2121;2131;2131;2116	.|ENSP00000385048:P2313S;ENSP00000385727:P2310S;ENSP00000384313:P2121S;ENSP00000384099:P2131S;ENSP00000261569:P2116S	.|ENSP00000261569:P2116S	P|P	+|+	2|1	0|0	MAST4|MAST4	66497691|66497691	0.000000|0.000000	0.05858|0.05858	0.016000|0.016000	0.15963|0.15963	0.026000|0.026000	0.11368|0.11368	0.269000|0.269000	0.18589|0.18589	1.159000|1.159000	0.42565|0.42565	0.561000|0.561000	0.74099|0.74099	CCC|CCA	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326324.2		+	ENST00000403625.2	Missense_Mutation	SNP	5 : 66461935 - 66461935 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	84	21
GABRQ	55879	broad.mit.edu	37	X	151818234	151818234	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151818234T>G	ENST00000370306.2	+	6	660	c.640T>G	c.(640-642)Ttc>Gtc	p.F214V		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	214						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CATCATATTATTCTGGGATGA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	129	139			NA	NA	X		NA											NA				151818234		2203	4300	6503	SO:0001583	missense			U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089	55879	55879		GABA receptors, Ligand-gated ion channels / GABA(A) receptors	14454	protein-coding gene	gene with protein product	GABA(A) receptor, theta	300349	gamma-aminobutyric acid (GABA) receptor, theta		NA	10804200, 10449790	Standard	NM_018558	NM_018558	NA	Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.640T>G	X.37:g.151818234T>G	ENSP00000359329:p.Phe214Val	NA	A6NFN1|Q32MB4|Q9NZK8	37	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	T	12.97	2.096594	0.36952	.	.	ENSG00000147402	ENST00000370306	T	0.78246	-1.16	5.82	5.82	0.92795	Neurotransmitter-gated ion-channel ligand-binding (3);	0.280140	0.25786	N	0.028304	T	0.56187	0.1968	N	0.03917	-0.325	0.30477	N	0.77273	P	0.43231	0.801	B	0.37780	0.258	T	0.62718	-0.6795	10	0.42905	T	0.14	.	12.9114	0.58182	0.0:0.0:0.0:1.0	.	214	Q9UN88	GBRT_HUMAN	V	214	ENSP00000359329:F214V	ENSP00000359329:F214V	F	+	1	0	GABRQ	151568890	1.000000	0.71417	0.861000	0.33841	0.128000	0.20619	4.927000	0.63440	1.957000	0.56846	0.486000	0.48141	TTC	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058763.2		+	ENST00000370306.2	Missense_Mutation	SNP	X : 151818234 - 151818234 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	418	102
HEXDC	284004	broad.mit.edu	37	17	80391663	80391663	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80391663C>T	ENST00000337014.6	+	5	886	c.412C>T	c.(412-414)Cca>Tca	p.P138S	HEXDC_ENST00000327949.9_Missense_Mutation_p.P138S|HEXDC_ENST00000577944.1_Missense_Mutation_p.P138S	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	138					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GGAGCTACACCCAGGCGCCCA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	35	33			NA	NA	17		NA											NA				80391663		1942	4134	6076	SO:0001583	missense			AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660	284004	284004			26307	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_173620	NM_173620	NA	Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000337014.6:c.412C>T	17.37:g.80391663C>T	ENSP00000337854:p.Pro138Ser	NA	B7UUP6|Q8IYN4|Q8TE81	37	CCDS42402.1	.	.	.	.	.	.	.	.	.	.	C	5.128	0.209217	0.09757	.	.	ENSG00000169660	ENST00000337014;ENST00000327949	D;D	0.91577	-2.87;-2.87	5.3	-1.34	0.09143	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);	0.737833	0.12882	N	0.431343	D	0.87462	0.6183	M	0.66297	2.02	0.24115	N	0.995827	B;B	0.32283	0.362;0.34	B;B	0.33846	0.16;0.171	T	0.77983	-0.2382	10	0.45353	T	0.12	-3.3651	9.2246	0.37398	0.363:0.397:0.24:0.0	.	138;138	Q8WVB3;Q8WVB3-2	HEXDC_HUMAN;.	S	138	ENSP00000337854:P138S;ENSP00000332634:P138S	ENSP00000332634:P138S	P	+	1	0	HEXDC	77984952	0.000000	0.05858	0.058000	0.19502	0.145000	0.21501	-0.086000	0.11233	-0.097000	0.12307	0.563000	0.77884	CCA	HEXDC-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443507.1		+	ENST00000337014.6	Missense_Mutation	SNP	17 : 80391663 - 80391663 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	327	48
DSCAM	1826	broad.mit.edu	37	21	42080507	42080507	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:42080507G>A	ENST00000400454.1	-	2	711	c.234C>T	c.(232-234)aaC>aaT	p.N78N		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	78	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGAGAGTGCCGTTGGGGTGGA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(134;970 1778 1785 21664 32388)							NA				0													98	100	99			NA	NA	21		NA											NA				42080507		1947	4144	6091	SO:0001819	synonymous_variant			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587	1826	1826		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	3039	protein-coding gene	gene with protein product		602523			NA	9426258	Standard	NM_001389	NM_001271534	NA	Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.234C>T	21.37:g.42080507G>A		NA	O60468	37	CCDS42929.1																																																																																			DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195029.1		-	ENST00000400454.1	Silent	SNP	21 : 42080507 - 42080507 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	565	180
CNTNAP5	129684	broad.mit.edu	37	2	125530375	125530375	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:125530375G>A	ENST00000431078.1	+	17	2894		c.e17-1			NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	NA					cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCCGGTTTCAGCTCCTTCAGA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	129	133			NA	NA	2		NA											NA				125530375		1932	4129	6061	SO:0001630	splice_region_variant			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052	129684	129684			18748	protein-coding gene	gene with protein product		610519			NA		Standard		NM_130773	NA	Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2531-1G>A	2.37:g.125530375G>A		NA	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	g	23.8	4.454110	0.84209	.	.	ENSG00000155052	ENST00000431078	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3771	0.90439	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNTNAP5	125246845	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	9.304000	0.96190	2.594000	0.87642	0.645000	0.84053	.	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330864.3	Intron	+	ENST00000431078.1	Splice_Site	SNP	2 : 125530375 - 125530375 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	298	81
SSBP4	170463	broad.mit.edu	37	19	18541673	18541673	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18541673C>A	ENST00000270061.7	+	5	596	c.302C>A	c.(301-303)cCc>cAc	p.P101H	SSBP4_ENST00000598159.2_3'UTR|SSBP4_ENST00000348495.6_Missense_Mutation_p.P101H	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4	NA						nucleus	single-stranded DNA binding			endometrium(2)|kidney(1)|skin(1)	4						GCCCCCAGCCCCGTTATGGGG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	30	30			NA	NA	19		NA											NA				18541673		2203	4300	6503	SO:0001583	missense				CCDS12378.1, CCDS32960.1	19p13.1	2008-02-05				ENSG00000130511	170463	170463			15676	protein-coding gene	gene with protein product		607391			NA	12079286	Standard	NM_032627	NM_032627	NA	Approved		uc002niy.3	Q9BWG4		ENST00000270061.7:c.302C>A	19.37:g.18541673C>A	ENSP00000270061:p.Pro101His	NA		37	CCDS12378.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.299588	0.40694	.	.	ENSG00000130511	ENST00000270061;ENST00000348495	.	.	.	2.8	2.8	0.32819	.	0.000000	0.64402	U	0.000002	T	0.74951	0.3784	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.76022	-0.3111	9	0.54805	T	0.06	-2.5338	9.7153	0.40270	0.0:1.0:0.0:0.0	.	101;101	Q9BWW5;Q9BWG4	.;SSBP4_HUMAN	H	101	.	ENSP00000270061:P101H	P	+	2	0	SSBP4	18402673	0.998000	0.40836	0.656000	0.29637	0.081000	0.17604	4.604000	0.61112	1.523000	0.49018	0.561000	0.74099	CCC	SSBP4-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466348.3		+	ENST00000270061.7	Missense_Mutation	SNP	19 : 18541673 - 18541673 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	223	38
SAMD9L	219285	broad.mit.edu	37	7	92762927	92762927	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92762927G>T	ENST00000318238.4	-	5	3574	c.2358C>A	c.(2356-2358)acC>acA	p.T786T	SAMD9L_ENST00000437805.1_Silent_p.T786T|SAMD9L_ENST00000411955.1_Silent_p.T786T	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	786										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTGCCCTATAGGTGACCAGAT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	120	121			NA	NA	7		NA											NA				92762927		2203	4300	6503	SO:0001819	synonymous_variant			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409	219285	219285		Sterile alpha motif (SAM) domain containing	1349	protein-coding gene	gene with protein product		611170	chromosome 7 open reading frame 6	C7orf6	NA		Standard	NM_152703	NM_152703	NA	Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.2358C>A	7.37:g.92762927G>T		NA	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	37	CCDS34681.1																																																																																			SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341730.1		-	ENST00000318238.4	Silent	SNP	7 : 92762927 - 92762927 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	741	129
TPP1	1200	broad.mit.edu	37	11	6637890	6637890	+	Splice_Site	SNP	A	A	G	rs112046417		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6637890A>G	ENST00000533371.1	-	6	956		c.e6+1		TPP1_ENST00000299427.6_Splice_Site			O14773	TPP1_HUMAN	tripeptidyl peptidase I	NA					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		TCTTGGTAGTACCAGGGCTAC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	73	74			NA	NA	11		NA											NA				6637890		2201	4296	6497	SO:0001630	splice_region_variant			AF017456	CCDS7770.1	11p15.4	2014-09-17	2004-12-09	2004-12-10	ENSG00000166340	ENSG00000166340	1200	1200			2073	protein-coding gene	gene with protein product	TPP I	607998	ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease), spinocerebellar ataxia, autosomal recessive 7	CLN2, SCAR7	NA	9653647, 23418007	Standard		NM_000391	NA	Approved		uc001mel.1	O14773	OTTHUMG00000133404	ENST00000533371.1:c.157+1T>C	11.37:g.6637890A>G		NA	Q53HT1|Q5JAK6|Q6UX56|Q71JP6|Q96C37	37		.	.	.	.	.	.	.	.	.	.	A	14.52	2.560786	0.45590	.	.	ENSG00000166340	ENST00000299427;ENST00000533371	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9135	0.52753	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TPP1	6594466	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	8.578000	0.90777	1.711000	0.51337	0.374000	0.22700	.	TPP1-003	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000384527.1	Intron	-	ENST00000533371.1	Splice_Site	SNP	11 : 6637890 - 6637890 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	403	67
SIGLEC1	6614	broad.mit.edu	37	20	3679957	3679957	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3679957G>T	ENST00000344754.4	-	7	1677	c.1678C>A	c.(1678-1680)Ctc>Atc	p.L560I	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L560I	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	560	Ig-like C2-type 5.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGGAGCAGGAGGCTGCTGCCG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	25	27			NA	NA	20		NA											NA				3679957		2203	4299	6502	SO:0001583	missense			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827	6614	6614		CD molecules, Sialic acid binding Ig-like lectins, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	11127	protein-coding gene	gene with protein product		600751	sialoadhesin	SN	NA	8530048	Standard	NM_023068	XM_006723610	NA	Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.1678C>A	20.37:g.3679957G>T	ENSP00000341141:p.Leu560Ile	NA	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	37	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613571	0.66672	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.15139	2.45;2.45	5.46	1.33	0.21861	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.209012	0.24291	N	0.039819	T	0.42877	0.1222	M	0.89785	3.06	0.27241	N	0.959146	D;D	0.62365	0.991;0.988	D;D	0.72625	0.978;0.962	T	0.29610	-1.0006	10	0.72032	D	0.01	.	7.8901	0.29674	0.3358:0.0:0.6642:0.0	.	560;560	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	I	560	ENSP00000341141:L560I;ENSP00000202578:L560I	ENSP00000202578:L560I	L	-	1	0	SIGLEC1	3627957	0.749000	0.28305	0.994000	0.49952	0.835000	0.47333	0.571000	0.23669	0.029000	0.15352	-0.136000	0.14681	CTC	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077761.2		-	ENST00000344754.4	Missense_Mutation	SNP	20 : 3679957 - 3679957 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	81	18
LRRC16A	55604	broad.mit.edu	37	6	25488745	25488745	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25488745C>T	ENST00000329474.6	+	13	1365	c.997C>T	c.(997-999)Cca>Tca	p.P333S		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	333					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CAGTGCCAATCCATTGACCGC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													182	180	181			NA	NA	6		NA											NA				25488745		1957	4160	6117	SO:0001583	missense			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691	55604	55604			21581	protein-coding gene	gene with protein product	capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)	609593	leucine rich repeat containing 16	LRRC16	NA	19846667	Standard	NM_017640	NM_017640	NA	Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.997C>T	6.37:g.25488745C>T	ENSP00000331983:p.Pro333Ser	NA	Q6ZUH5|Q6ZW07|Q9NXU7	37	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.246328	0.22796	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.54675	0.56	4.99	4.13	0.48395	.	0.321867	0.33610	N	0.004730	T	0.16514	0.0397	N	0.22421	0.69	0.80722	D	1	B;B;B	0.10296	0.001;0.002;0.003	B;B;B	0.19148	0.004;0.004;0.024	T	0.08827	-1.0703	10	0.08381	T	0.77	.	10.5987	0.45354	0.0:0.8302:0.0:0.1698	.	333;333;333	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	S	333	ENSP00000331983:P333S	ENSP00000331983:P333S	P	+	1	0	LRRC16A	25596724	1.000000	0.71417	0.868000	0.34077	0.725000	0.41563	5.489000	0.66875	1.230000	0.43646	-0.136000	0.14681	CCA	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040045.2		+	ENST00000329474.6	Missense_Mutation	SNP	6 : 25488745 - 25488745 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	811	146
RPL18	6141	broad.mit.edu	37	19	49119337	49119337	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49119337G>A	ENST00000549273.1	-	5	453	c.420C>T	c.(418-420)tcC>tcT	p.S140S	RPL18_ENST00000552588.1_Splice_Site_p.S111S|RPL18_ENST00000549920.1_Splice_Site_p.S140S|RPL18_ENST00000550645.1_Intron			Q07020	RL18_HUMAN	ribosomal protein L18	140					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			cervix(1)|kidney(2)	3		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		ATCACTCACCGGAGAGCAGGA	0.652		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	83	70	75		420	-2.7	1	19		75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice	RPL18	NM_000979.2		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		140/189	49119337	1,13005	2203	4300	6503	SO:0001630	splice_region_variant			L11566	CCDS12726.1, CCDS58669.1	19q13	2011-04-06				ENSG00000063177	6141	6141		L ribosomal proteins	10310	protein-coding gene	gene with protein product	60S ribosomal protein L18	604179			NA	8218404	Standard	NM_000979	NM_000979	NA	Approved	L18	uc002pjq.2	Q07020	OTTHUMG00000169760	ENST00000549273.1:c.421+1C>T	19.37:g.49119337G>A		NA	Q8WTZ6	37		.	.	.	.	.	.	.	.	.	.	G	4.252	0.045780	0.08196	0.0	1.16E-4	ENSG00000063177	ENST00000084795;ENST00000546623	.	.	.	4.74	-2.69	0.06022	.	.	.	.	.	T	0.50257	0.1605	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40590	-0.9555	4	.	.	.	-12.0717	6.6251	0.22824	0.4645:0.0:0.4143:0.1212	.	.	.	.	W	142;119	.	.	R	-	1	2	RPL18	53811149	0.977000	0.34250	0.956000	0.39512	0.117000	0.20001	0.122000	0.15687	-0.953000	0.03645	-1.202000	0.01658	CGG	RPL18-014	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000405806.1	Silent	-	ENST00000549273.1	Splice_Site	SNP	19 : 49119337 - 49119337 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	18
INF2	64423	broad.mit.edu	37	14	105179914	105179914	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105179914C>T	ENST00000392634.4	+	20	3123	c.3011C>T	c.(3010-3012)tCc>tTc	p.S1004F	INF2_ENST00000330634.7_Missense_Mutation_p.S1004F	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1004					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		AAGGCAGCCTCCATGGATCCC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	63	57			NA	NA	14		NA											NA				105179914		2038	4191	6229	SO:0001583	missense			AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485	64423	64423			23791	protein-coding gene	gene with protein product	inverted formin 2	610982	chromosome 14 open reading frame 151, chromosome 14 open reading frame 173	C14orf151, C14orf173	NA	16818491	Standard	NM_022489	NM_001031714	NA	Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.3011C>T	14.37:g.105179914C>T	ENSP00000376410:p.Ser1004Phe	NA	Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	37	CCDS9989.2	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823223	0.32237	.	.	ENSG00000203485	ENST00000330634;ENST00000392634	T;T	0.80738	-1.41;-1.41	4.04	2.16	0.27623	.	7.488640	0.01565	U	0.020283	T	0.66056	0.2751	N	0.19112	0.55	0.09310	N	0.999997	P;P	0.43094	0.799;0.697	B;B	0.31946	0.138;0.094	T	0.60016	-0.7345	10	0.49607	T	0.09	.	6.2899	0.21054	0.0:0.6793:0.1498:0.1709	.	1004;1004	Q27J81-2;Q27J81	.;INF2_HUMAN	F	1004	ENSP00000376406:S1004F;ENSP00000376410:S1004F	ENSP00000252527:S472F	S	+	2	0	INF2	104250959	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.929000	0.28844	0.269000	0.21961	-0.379000	0.06801	TCC	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000074371.4		+	ENST00000392634.4	Missense_Mutation	SNP	14 : 105179914 - 105179914 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	167	29
PWWP2A	114825	broad.mit.edu	37	5	159546030	159546030	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159546030C>T	ENST00000523662.1	-	1	399	c.366G>A	c.(364-366)gaG>gaA	p.E122E	PWWP2A_ENST00000307063.7_Silent_p.E122E|PWWP2A_ENST00000456329.3_Silent_p.E122E	NM_001267035.1	NP_001253964.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	122	Pro-rich.									kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCGGGGGCTGCTCCGGCGGCG	0.746		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	13	13			NA	NA	5		NA											NA				159546030		1804	3926	5730	SO:0001819	synonymous_variant				CCDS47331.1, CCDS47332.1, CCDS58990.1	5q33.3	2011-03-23			ENSG00000170234	ENSG00000170234	114825	114825			29406	protein-coding gene	gene with protein product					NA		Standard		NM_052927	NA	Approved	KIAA1935	uc011ded.2	Q96N64	OTTHUMG00000163546	ENST00000523662.1:c.366G>A	5.37:g.159546030C>T		NA	Q2HJJ2|Q8IYR3|Q96PV3	37	CCDS58990.1																																																																																			PWWP2A-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374091.1		-	ENST00000523662.1	Silent	SNP	5 : 159546030 - 159546030 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	192	30
GPRC5B	51704	broad.mit.edu	37	16	19883350	19883350	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19883350G>A	ENST00000300571.2	-	2	1009	c.818C>T	c.(817-819)gCc>gTc	p.A273V	GPRC5B_ENST00000569479.1_Missense_Mutation_p.A273V|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A299V|GPRC5B_ENST00000569847.1_Missense_Mutation_p.A273V|GPRC5B_ENST00000535671.1_Missense_Mutation_p.A273V	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	273										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CAGCGTGATGGCCAAGGTGGG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	76	74			NA	NA	16		NA											NA				19883350		2197	4300	6497	SO:0001583	missense			AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191	NA	51704		GPCR / Class C : Orphans	13308	protein-coding gene	gene with protein product		605948	G protein-coupled receptor, family C, group 1, member B, G protein-coupled receptor, family C, group 5, member B		NA	10493829, 10783259	Standard		XM_005255357	NA	Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.818C>T	16.37:g.19883350G>A	ENSP00000300571:p.Ala273Val	NA	O75205|Q8NBZ8	37	CCDS10581.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551288	0.86127	.	.	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	D;D;D	0.88431	-2.38;-2.38;-2.38	5.18	5.18	0.71444	GPCR, family 3, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94440	0.8211	M	0.81497	2.545	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.977	D	0.94209	0.7457	9	.	.	.	.	17.8587	0.88775	0.0:0.0:1.0:0.0	.	299;273	B7Z831;Q9NZH0	.;GPC5B_HUMAN	V	273;273;122;299	ENSP00000300571:A273V;ENSP00000442858:A273V;ENSP00000441775:A299V	.	A	-	2	0	GPRC5B	19790851	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.640000	0.83355	2.688000	0.91661	0.655000	0.94253	GCC	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254285.1		-	ENST00000300571.2	Missense_Mutation	SNP	16 : 19883350 - 19883350 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	288	60
ADCK2	90956	broad.mit.edu	37	7	140386814	140386814	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140386814G>A	ENST00000072869.4	+	5	1508	c.1330G>A	c.(1330-1332)Gca>Aca	p.A444T	ADCK2_ENST00000476491.1_Missense_Mutation_p.A444T	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	444	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CTTTGTCCATGCAGACCTTCA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	125	129			NA	NA	7		NA											NA				140386814		2203	4300	6503	SO:0001583	missense			AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597	90956	90956			19039	protein-coding gene	gene with protein product					NA		Standard	NM_052853	NM_052853	NA	Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.1330G>A	7.37:g.140386814G>A	ENSP00000072869:p.Ala444Thr	NA	Q96CN6|Q9Y6T5	37	CCDS5861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.255380|4.255380	0.80135|0.80135	.|.	.|.	ENSG00000133597|ENSG00000133597	ENST00000072869;ENST00000476491;ENST00000473512|ENST00000483369	T;T;T|.	0.12361|.	2.69;2.69;2.69|.	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	0.147326|.	0.46442|.	D|.	0.000299|.	T|T	0.77857|0.77857	0.4193|0.4193	M|M	0.77313|0.77313	2.365|2.365	0.47276|0.47276	D|D	0.999379|0.999379	B;P|.	0.52842|.	0.397;0.956|.	B;P|.	0.52424|.	0.278;0.698|.	T|T	0.77710|0.77710	-0.2486|-0.2486	10|5	0.87932|.	D|.	0|.	-18.9077|-18.9077	18.9433|18.9433	0.92612|0.92612	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	444;444|.	C9JE15;Q7Z695|.	.;ADCK2_HUMAN|.	T|Y	444;444;84|281	ENSP00000072869:A444T;ENSP00000420512:A444T;ENSP00000420288:A84T|.	ENSP00000072869:A444T|.	A|C	+|+	1|2	0|0	ADCK2|ADCK2	140033283|140033283	1.000000|1.000000	0.71417|0.71417	0.350000|0.350000	0.25708|0.25708	0.098000|0.098000	0.18820|0.18820	9.218000|9.218000	0.95166|0.95166	2.714000|2.714000	0.92807|0.92807	0.561000|0.561000	0.74099|0.74099	GCA|TGC	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348734.1		+	ENST00000072869.4	Missense_Mutation	SNP	7 : 140386814 - 140386814 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	630	109
IQCH	64799	broad.mit.edu	37	15	67768123	67768123	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:67768123C>A	ENST00000335894.4	+	18	2832	c.2766C>A	c.(2764-2766)atC>atA	p.I922I	IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000546225.1_Silent_p.I579I|IQCH_ENST00000358767.3_Silent_p.I658I|IQCH_ENST00000360277.4_Silent_p.I583I	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	922										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TTCTCCAGATCTGTAGGGCCC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	122	132			NA	NA	15		NA											NA				67768123		2201	4299	6500	SO:0001819	synonymous_variant			AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599	64799	64799			25721	protein-coding gene	gene with protein product		612523			NA	12477932	Standard	NM_022784	NM_022784	NA	Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.2766C>A	15.37:g.67768123C>A		NA	A8K8W3|C9JPR6|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	37	CCDS32273.1																																																																																			IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256969.1		+	ENST00000335894.4	Silent	SNP	15 : 67768123 - 67768123 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	367	78
IK	3550	broad.mit.edu	37	5	140040342	140040342	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140040342G>T	ENST00000417647.2	+	16	1494		c.e16-1			NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	NA					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTCCTTAGGATGGATGAC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													234	230	231			NA	NA	5		NA											NA				140040342		1993	4177	6170	SO:0001630	splice_region_variant			BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141	3550	3550			5958	protein-coding gene	gene with protein product		600549			NA	7970704	Standard	NM_006083	NM_006083	NA	Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.1356-1G>T	5.37:g.140040342G>T		NA	Q6IPD8	37	CCDS47280.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086207	0.76642	.	.	ENSG00000113141	ENST00000417647	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7911	0.85589	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IK	140020526	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.609000	0.98334	2.261000	0.74972	0.655000	0.94253	.	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372897.1	Intron	+	ENST00000417647.2	Splice_Site	SNP	5 : 140040342 - 140040342 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	47
CRX	1406	broad.mit.edu	37	19	48343134	48343134	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48343134G>A	ENST00000221996.7	+	4	1016	c.810G>A	c.(808-810)aaG>aaA	p.K270K	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Silent_p.K270K	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	270					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TGGAATTCAAGGACCCCACGG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(57;461 1196 22201 40716 47188)							NA				0													93	98	96			NA	NA	19		NA											NA				48343134		2203	4297	6500	SO:0001819	synonymous_variant			AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392	1406	1406		Homeoboxes / PRD class	2383	protein-coding gene	gene with protein product	orthodenticle homeobox 3	602225		CORD2	NA	9390563, 9537410	Standard	NM_000554	NM_000554	NA	Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.810G>A	19.37:g.48343134G>A		NA		37	CCDS12706.1																																																																																			CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409812.4		+	ENST00000221996.7	Silent	SNP	19 : 48343134 - 48343134 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1043	172
FBXO31	79791	broad.mit.edu	37	16	87377229	87377229	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87377229T>G	ENST00000311635.7	-	4	644	c.632A>C	c.(631-633)aAa>aCa	p.K211T		NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	211					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		GTGGGGCCCTTTGTGGCCGTA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	45	46			NA	NA	16		NA											NA				87377229		2198	4300	6498	SO:0001583	missense			BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264	79791	79791		F-boxes /  other	16510	protein-coding gene	gene with protein product		609102	F-box only protein 31		NA		Standard	NM_024735	NM_024735	NA	Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.632A>C	16.37:g.87377229T>G	ENSP00000310841:p.Lys211Thr	NA	Q5K680|Q8WYV1|Q96D73|Q9UFV4	37	CCDS32501.1	.	.	.	.	.	.	.	.	.	.	T	11.56	1.674904	0.29783	.	.	ENSG00000103264	ENST00000311635	T	0.70164	-0.46	5.05	-1.46	0.08800	.	0.096351	0.64402	D	0.000001	T	0.49081	0.1536	N	0.24115	0.695	0.39230	D	0.963656	P;P	0.46706	0.883;0.675	B;B	0.42827	0.399;0.381	T	0.45789	-0.9237	10	0.40728	T	0.16	-14.7255	10.9479	0.47312	0.0:0.1776:0.0:0.8224	.	211;103	Q5XUX0;Q5XUX0-2	FBX31_HUMAN;.	T	211	ENSP00000310841:K211T	ENSP00000310841:K211T	K	-	2	0	FBXO31	85934730	0.994000	0.37717	0.007000	0.13788	0.812000	0.45895	2.197000	0.42696	-0.482000	0.06782	0.533000	0.62120	AAA	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000430799.2		-	ENST00000311635.7	Missense_Mutation	SNP	16 : 87377229 - 87377229 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	117	20
ANO3	63982	broad.mit.edu	37	11	26620467	26620467	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26620467G>A	ENST00000256737.3	+	16	2445	c.1593G>A	c.(1591-1593)acG>acA	p.T531T	ANO3_ENST00000537978.1_Silent_p.T515T|ANO3_ENST00000531568.1_Silent_p.T385T|ANO3_ENST00000525139.1_Silent_p.T515T	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	531						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ATCCCATCACGGGAAAACCTG	0.403		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	83	72	76		1593	-5.6	1	11		76	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	ANO3	NM_031418.2		0,1,6501	AA,AG,GG	NA	0.0116,0.0,0.0077		531/982	26620467	1,13003	2203	4299	6502	SO:0001819	synonymous_variant			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343	63982	63982		Ion channels / Chloride channels : Calcium activated : Anoctamins	14004	protein-coding gene	gene with protein product	transmembrane protein 16C (eight membrane-spanning domains)	610110	chromosome 11 open reading frame 25, transmembrane protein 16C	C11orf25, TMEM16C	NA	12739008, 15067359, 23200863, 24692353	Standard	NM_031418	NM_031418	NA	Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1593G>A	11.37:g.26620467G>A		NA		37	CCDS31447.1																																																																																			ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387806.1		+	ENST00000256737.3	Silent	SNP	11 : 26620467 - 26620467 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	198	31
P2RX1	5023	broad.mit.edu	37	17	3801339	3801339	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3801339C>T	ENST00000225538.3	-	11	1372	c.1098G>A	c.(1096-1098)aaG>aaA	p.K366K		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	366					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		ATTTGAACTTCTTCTGCTTGT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	108	107			NA	NA	17		NA											NA				3801339		2203	4300	6503	SO:0001819	synonymous_variant			X83688	CCDS11040.1	17p13.3	2012-01-17				ENSG00000108405	5023	5023		Purinergic receptors, Ligand-gated ion channels / Purinergic receptors, ionotropic	8533	protein-coding gene	gene with protein product		600845			NA	8834001	Standard	NM_002558	NM_002558	NA	Approved	P2X1	uc002fww.3	P51575		ENST00000225538.3:c.1098G>A	17.37:g.3801339C>T		NA	Q9UK84	37	CCDS11040.1																																																																																			P2RX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438391.1		-	ENST00000225538.3	Silent	SNP	17 : 3801339 - 3801339 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	822	21
PHACTR1	221692	broad.mit.edu	37	6	13206049	13206049	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:13206049C>T	ENST00000379350.1	+	7	796	c.667C>T	c.(667-669)Cct>Tct	p.P223S	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Missense_Mutation_p.P223S|PHACTR1_ENST00000457702.2_Missense_Mutation_p.P78S			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	223						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGCCACAGATCCTGGCGCCCC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	48	48			NA	NA	6		NA											NA				13206049		1985	4168	6153	SO:0001583	missense			AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137	221692	221692		Phosphatase and actin regulators	20990	protein-coding gene	gene with protein product		608723	RPEL repeat containing 1	RPEL1	NA	11214970, 15107502	Standard	XM_166420	NM_030948	NA	Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.667C>T	6.37:g.13206049C>T	ENSP00000368655:p.Pro223Ser	NA	A8K1V2|Q3MJ93|Q5JSJ2	37		.	.	.	.	.	.	.	.	.	.	C	2.219	-0.378753	0.05000	.	.	ENSG00000112137	ENST00000379350;ENST00000332995;ENST00000432934;ENST00000457702	T;T;T	0.30182	1.54;1.57;1.64	5.05	5.05	0.67936	.	0.186728	0.49916	D	0.000121	T	0.06371	0.0164	N	0.04508	-0.205	0.80722	D	1	B;B;B	0.25719	0.132;0.02;0.035	B;B;B	0.22152	0.038;0.006;0.023	T	0.18461	-1.0336	10	0.25751	T	0.34	-7.4043	11.0496	0.47878	0.0:0.9158:0.0:0.0842	.	292;223;223	E7ESR5;Q9C0D0;Q9C0D0-2	.;PHAR1_HUMAN;.	S	223;223;292;78	ENSP00000368655:P223S;ENSP00000329880:P223S;ENSP00000397669:P78S	ENSP00000329880:P223S	P	+	1	0	PHACTR1	13314028	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	2.245000	0.43133	2.607000	0.88179	0.561000	0.74099	CCT	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000039876.1		+	ENST00000379350.1	Missense_Mutation	SNP	6 : 13206049 - 13206049 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	297	64
FAM78A	286336	broad.mit.edu	37	9	134151321	134151321	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134151321C>A	ENST00000372271.3	-	1	613	c.246G>T	c.(244-246)aaG>aaT	p.K82N		NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	82										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		AAGTCTCCTTCTTGGGGATGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	53	55			NA	NA	9		NA											NA				134151321		2203	4300	6503	SO:0001583	missense			AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882	286336	286336			25465	protein-coding gene	gene with protein product			chromosome 9 open reading frame 59	C9orf59	NA	11214971	Standard	NM_033387	NM_033387	NA	Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.246G>T	9.37:g.134151321C>A	ENSP00000361345:p.Lys82Asn	NA	Q86VQ9|Q9H7P4	37	CCDS6941.2	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320578	0.60634	.	.	ENSG00000126882	ENST00000372271	.	.	.	4.88	4.88	0.63580	.	0.426241	0.27673	N	0.018336	T	0.44498	0.1296	N	0.22421	0.69	0.37573	D	0.919492	B	0.21905	0.062	B	0.15870	0.014	T	0.41106	-0.9527	9	0.23891	T	0.37	-26.4836	17.3899	0.87427	0.0:1.0:0.0:0.0	.	82	Q5JUQ0	FA78A_HUMAN	N	82	.	ENSP00000361345:K82N	K	-	3	2	FAM78A	133141142	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	1.895000	0.39778	2.422000	0.82143	0.561000	0.74099	AAG	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054720.1		-	ENST00000372271.3	Missense_Mutation	SNP	9 : 134151321 - 134151321 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	275	47
KMT2D	8085	broad.mit.edu	37	12	49435265	49435265	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49435265C>A	ENST00000301067.7	-	31	6287	c.6288G>T	c.(6286-6288)aaG>aaT	p.K2096N		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D	NA											NA						GTCGGTCAGTCTTACGGGCTA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	63	61			NA	NA	12		NA											NA				49435265		2055	4190	6245	SO:0001583	missense			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.6288G>T	12.37:g.49435265C>A	ENSP00000301067:p.Lys2096Asn	NA		37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	7.579	0.668346	0.14776	.	.	ENSG00000167548	ENST00000301067	T	0.80480	-1.38	4.14	4.14	0.48551	.	0.000000	0.34484	N	0.003932	T	0.65123	0.2661	N	0.14661	0.345	0.28783	N	0.899755	P	0.48230	0.907	B	0.41036	0.346	T	0.66548	-0.5896	10	0.87932	D	0	.	9.9782	0.41797	0.0:0.9031:0.0:0.0969	.	2096	O14686	MLL2_HUMAN	N	2096	ENSP00000301067:K2096N	ENSP00000301067:K2096N	K	-	3	2	MLL2	47721532	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	0.913000	0.28611	2.599000	0.87857	0.561000	0.74099	AAG	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390183.2		-	ENST00000301067.7	Missense_Mutation	SNP	12 : 49435265 - 49435265 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	389	51
DEFB119	245932	broad.mit.edu	37	20	29965236	29965236	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:29965236C>T	ENST00000376321.3	-	2	187	c.68G>A	c.(67-69)cGc>cAc	p.R23H	DEFB119_ENST00000339144.3_Silent_p.T36T|DEFB119_ENST00000492344.1_5'UTR	NM_153289.3	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119	23					defense response to bacterium	extracellular region		p.T36T(1)		large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AAGGATGTGGCGTTTGCCTGC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											135	127	130			NA	NA	20		NA											NA				29965236		2203	4300	6503	SO:0001583	missense			AA939044	CCDS13178.1, CCDS33455.1	20q11.21	2007-02-19	2003-10-06		ENSG00000180483	ENSG00000180483	245932	245932		Defensins, beta	18099	protein-coding gene	gene with protein product			defensin, beta 120	DEFB120	NA	11854508	Standard	NM_153289	NM_153289	NA	Approved	DEFB-19, DEFB-20	uc002wvu.2	Q8N690	OTTHUMG00000032172	ENST00000376321.3:c.68G>A	20.37:g.29965236C>T	ENSP00000365499:p.Arg23His	NA	Q5GRG1|Q5JWP1|Q8N689	37	CCDS13178.1	.	.	.	.	.	.	.	.	.	.	C	4.463	0.085801	0.08583	.	.	ENSG00000180483	ENST00000376321	T	0.29917	1.55	4.23	-5.42	0.02640	.	.	.	.	.	T	0.15955	0.0384	.	.	.	0.09310	N	1	B	0.15473	0.013	B	0.08055	0.003	T	0.26503	-1.0101	8	0.27082	T	0.32	.	7.9032	0.29746	0.0:0.1838:0.1351:0.681	.	23	Q8N690	DB119_HUMAN	H	23	ENSP00000365499:R23H	ENSP00000365499:R23H	R	-	2	0	DEFB119	29428897	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.238000	0.01199	-1.088000	0.03077	-0.136000	0.14681	CGC	DEFB119-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078514.1		-	ENST00000376321.3	Missense_Mutation	SNP	20 : 29965236 - 29965236 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	507	92
EOGT	285203	broad.mit.edu	37	3	69027535	69027535	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69027535G>A	ENST00000383701.3	-	17	2128	c.1386C>T	c.(1384-1386)ggC>ggT	p.G462G	EOGT_ENST00000295571.5_Silent_p.G378G|EOGT_ENST00000540955.1_Silent_p.G186G|EOGT_ENST00000540764.1_Silent_p.G361G	NM_001278689.1	NP_001265618.1			EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase	NA											NA						TGTAGTGAACGCCTCTCAGCC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	131	136			NA	NA	3		NA											NA				69027535		2203	4300	6503	SO:0001819	synonymous_variant			AK091089	CCDS2908.1, CCDS63684.1	3p14.1	2013-10-11	2012-05-21	2012-05-21	ENSG00000163378	ENSG00000163378	285203	285203	2.4.1.255		28526	protein-coding gene	gene with protein product	AER61 glycosyltransferase	614789	chromosome 3 open reading frame 64	C3orf64	NA	22310717	Standard	NM_173654	NM_001278689	NA	Approved	AER61, FLJ33770	uc003dnk.3	Q5NDL2	OTTHUMG00000156279	ENST00000383701.3:c.1386C>T	3.37:g.69027535G>A		NA		37																																																																																				EOGT-002	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000343722.1		-	ENST00000383701.3	Silent	SNP	3 : 69027535 - 69027535 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	127
SPATA2L	124044	broad.mit.edu	37	16	89764195	89764195	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89764195C>T	ENST00000289805.5	-	3	890	c.822G>A	c.(820-822)ggG>ggA	p.G274G	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	274										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGGCCCGGCCCCCAGTGCCCC	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	13	12			NA	NA	16		NA											NA				89764195		2167	4266	6433	SO:0001819	synonymous_variant			AF070574	CCDS10985.1	16q24.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000158792	ENSG00000158792	124044	124044			28393	protein-coding gene	gene with protein product			chromosome 16 open reading frame 76	C16orf76	NA	8619474	Standard	NM_152339	NM_152339	NA	Approved	MGC26885, tamo	uc002foj.3	Q8IUW3	OTTHUMG00000138047	ENST00000289805.5:c.822G>A	16.37:g.89764195C>T		NA	D3DX85|Q8NHV3	37	CCDS10985.1																																																																																			SPATA2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269923.1		-	ENST00000289805.5	Silent	SNP	16 : 89764195 - 89764195 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	90	19
TBR1	10716	broad.mit.edu	37	2	162273383	162273383	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162273383C>T	ENST00000389554.3	+	1	779	c.462C>T	c.(460-462)aaC>aaT	p.N154N		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	154						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.N154N(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						TCATCACCAACGGAGCCTACA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	ovary(1)											66	69	68			NA	NA	2		NA											NA				162273383		2203	4300	6503	SO:0001819	synonymous_variant			U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535	10716	10716		T-boxes	11590	protein-coding gene	gene with protein product		604616			NA	7619531	Standard	NM_006593	NM_006593	NA	Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.462C>T	2.37:g.162273383C>T		NA	Q14DC5|Q53TH0	37	CCDS33310.1																																																																																			TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000332845.1		+	ENST00000389554.3	Silent	SNP	2 : 162273383 - 162273383 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1060	50
REC8	9985	broad.mit.edu	37	14	24646947	24646947	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24646947G>A	ENST00000311457.3	+	12	1443	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	REC8_ENST00000559919.1_Missense_Mutation_p.A282T			O95072	REC8_HUMAN	REC8 meiotic recombination protein	283	Glu-rich.|Pro-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		GCGTCTGCCAGCCCCACCCAG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(139;1764 2537 12868 49041)							NA				0													31	39	36			NA	NA	14		NA											NA				24646947		2010	4178	6188	SO:0001583	missense			AF006264	CCDS41932.1	14q11.2-q12	2013-08-06	2013-08-06	2007-04-03		ENSG00000100918	9985	9985			16879	protein-coding gene	gene with protein product		608193	REC8-like 1 (yeast), REC8 homolog (yeast)	REC8L1	NA	10207075, 15935783, 12759374	Standard	NM_005132	NM_005132	NA	Approved	Rec8p, kleisin-alpha	uc001wms.3	O95072		ENST00000311457.3:c.844G>A	14.37:g.24646947G>A	ENSP00000308699:p.Ala282Thr	NA	A8K576|D3DS62|Q658V5|Q6IA92|Q8WUV8|Q9BTF2|Q9NVQ9	37	CCDS41932.1	.	.	.	.	.	.	.	.	.	.	G	9.906	1.208192	0.22205	.	.	ENSG00000100918	ENST00000311457	T	0.24151	1.87	5.21	-1.75	0.08031	.	1.027860	0.07705	N	0.941037	T	0.17959	0.0431	L	0.33485	1.01	0.09310	N	1	B	0.24186	0.099	B	0.22601	0.04	T	0.35649	-0.9780	10	0.11794	T	0.64	-0.8279	12.2069	0.54356	0.0772:0.625:0.2978:0.0	.	283	O95072	REC8_HUMAN	T	282	ENSP00000308699:A282T	ENSP00000308699:A282T	A	+	1	0	REC8	23716787	0.000000	0.05858	0.019000	0.16419	0.953000	0.61014	-0.938000	0.03938	-0.160000	0.11002	0.561000	0.74099	GCC	REC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415889.3		+	ENST00000311457.3	Missense_Mutation	SNP	14 : 24646947 - 24646947 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	204	9
NUDCD3	23386	broad.mit.edu	37	7	44467174	44467174	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44467174T>G	ENST00000355451.7	-	3	917	c.638A>C	c.(637-639)aAg>aCg	p.K213T	NUDCD3_ENST00000460110.1_5'UTR	NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	NA	CS.									endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						CATTACCTGCTTTCCCTTCAC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	118	122			NA	NA	7		NA											NA				44467174		2203	4300	6503	SO:0001583	missense			BC003691	CCDS5490.2	7p13-p12	2005-03-18			ENSG00000015676	ENSG00000015676	23386	23386			22208	protein-coding gene	gene with protein product		610296			NA		Standard	NM_015332	NM_015332	NA	Approved	KIAA1068	uc003tkz.3	Q8IVD9	OTTHUMG00000129174	ENST00000355451.7:c.638A>C	7.37:g.44467174T>G	ENSP00000347626:p.Lys213Thr	NA	Q9BTI3|Q9H7W9|Q9UPT4	37	CCDS5490.2	.	.	.	.	.	.	.	.	.	.	T	20.9	4.059671	0.76074	.	.	ENSG00000015676	ENST00000355451	T	0.53206	0.63	5.78	3.49	0.39957	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.277214	0.38436	N	0.001683	T	0.68467	0.3004	M	0.80422	2.495	0.34906	D	0.746983	B	0.28055	0.199	P	0.57548	0.823	T	0.74000	-0.3805	10	0.72032	D	0.01	-20.7429	6.7428	0.23445	0.0:0.256:0.0:0.744	.	213	Q8IVD9	NUDC3_HUMAN	T	213	ENSP00000347626:K213T	ENSP00000347626:K213T	K	-	2	0	NUDCD3	44433699	0.999000	0.42202	1.000000	0.80357	0.970000	0.65996	0.970000	0.29383	0.505000	0.28104	0.533000	0.62120	AAG	NUDCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251248.3		-	ENST00000355451.7	Missense_Mutation	SNP	7 : 44467174 - 44467174 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	599	108
ATP1B3	483	broad.mit.edu	37	3	141644374	141644374	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141644374T>C	ENST00000286371.3	+	7	859	c.671T>C	c.(670-672)gTt>gCt	p.V224A	ATP1B3_ENST00000539728.1_3'UTR|ATP1B3_ENST00000484727.1_3'UTR|ATP1B3_ENST00000462082.1_Splice_Site_p.V34A	NM_001679.2	NP_001670.1	P54709	AT1B3_HUMAN	ATPase, Na+/K+ transporting, beta 3 polypeptide	224					ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			cervix(1)|endometrium(1)|lung(2)	4						TATTGCCAGGTTGGGTATCTA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	115	117			NA	NA	3		NA											NA				141644374		2203	4300	6503	SO:0001630	splice_region_variant			BC011835	CCDS3121.1	3q23	2012-10-22			ENSG00000069849	ENSG00000069849	483	483		CD molecules, ATPases / P-type	806	protein-coding gene	gene with protein product	sodium/potassium-transporting ATPase subunit beta-3, sodium pump subunit beta-3, sodium-potassium ATPase subunit beta 3 (non-catalytic)	601867			NA	8798450, 9457675	Standard	NM_001679	NM_001679	NA	Approved	FLJ29027, CD298	uc003eug.1	P54709	OTTHUMG00000159081	ENST00000286371.3:c.670-1T>C	3.37:g.141644374T>C		NA		37	CCDS3121.1	.	.	.	.	.	.	.	.	.	.	T	7.279	0.608812	0.14066	.	.	ENSG00000069849	ENST00000286371;ENST00000462082	T;T	0.29142	1.58;1.58	5.58	0.0747	0.14396	.	0.662303	0.16266	N	0.222039	T	0.21590	0.0520	M	0.65975	2.015	0.40735	D	0.982782	B;B	0.19200	0.034;0.034	B;B	0.22152	0.022;0.038	T	0.14699	-1.0463	10	0.07482	T	0.82	-6.4638	1.5542	0.02581	0.1219:0.1728:0.2729:0.4324	.	210;224	D3DNF9;P54709	.;AT1B3_HUMAN	A	224;34	ENSP00000286371:V224A;ENSP00000418353:V34A	ENSP00000286371:V224A	V	+	2	0	ATP1B3	143127064	0.957000	0.32711	0.226000	0.23910	0.093000	0.18481	0.330000	0.19715	0.064000	0.16427	0.533000	0.62120	GTT	ATP1B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353218.1	Missense_Mutation	+	ENST00000286371.3	Splice_Site	SNP	3 : 141644374 - 141644374 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	756	145
ZNF557	79230	broad.mit.edu	37	19	7083365	7083365	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7083365C>T	ENST00000414706.1	+	8	1376	c.903C>T	c.(901-903)ttC>ttT	p.F301F	ZNF557_ENST00000252840.6_Silent_p.F301F|ZNF557_ENST00000439035.2_Silent_p.F294F	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GAAAGGCTTTCGGCACGAGGT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	160	157			NA	NA	19		NA											NA				7083365		2166	4268	6434	SO:0001819	synonymous_variant			AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544	79230	79230		Zinc fingers, C2H2-type, -	28632	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024341	NM_024341	NA	Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000414706.1:c.903C>T	19.37:g.7083365C>T		NA	Q6PEJ3|Q9BTZ1	37	CCDS42485.1																																																																																			ZNF557-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458501.1		+	ENST00000414706.1	Silent	SNP	19 : 7083365 - 7083365 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	832	148
MYH13	8735	broad.mit.edu	37	17	10265484	10265484	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10265484C>T	ENST00000418404.3	-	4	619	c.456G>A	c.(454-456)ccG>ccA	p.P152P	MYH13_ENST00000252172.4_Silent_p.P152P			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	152	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGATGTGGGGCGGGGCCTCCT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	110	106			NA	NA	17		NA											NA				10265484		2203	4297	6500	SO:0001819	synonymous_variant			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788	8735	8735		Myosins / Myosin superfamily : Class II	7571	protein-coding gene	gene with protein product	extraocular muscle myosin heavy chain, extraocular myosin heavy chain	603487	myosin, heavy polypeptide 13, skeletal muscle		NA	9806854	Standard	NM_003802	NM_003802	NA	Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.456G>A	17.37:g.10265484C>T		NA	O95252	37	CCDS45613.1																																																																																			MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442255.1		-	ENST00000418404.3	Silent	SNP	17 : 10265484 - 10265484 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1300	104
PURA	5813	broad.mit.edu	37	5	139494240	139494240	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139494240T>G	ENST00000331327.3	+	1	533	c.474T>G	c.(472-474)gaT>gaG	p.D158E		NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A	158					DNA unwinding involved in replication|DNA-dependent DNA replication initiation	DNA replication factor A complex	double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTACATGGATCTCAAGGAGA	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	20	19			NA	NA	5		NA											NA				139494240		2200	4294	6494	SO:0001583	missense			BC036087	CCDS4220.1	5q31	2008-02-05			ENSG00000185129	ENSG00000185129	5813	5813			9701	protein-coding gene	gene with protein product		600473			NA	1448097	Standard	NM_005859	NM_005859	NA	Approved	PURALPHA, PUR1, PUR-ALPHA	uc003lfa.3	Q00577	OTTHUMG00000129242	ENST00000331327.3:c.474T>G	5.37:g.139494240T>G	ENSP00000332706:p.Asp158Glu	NA		37	CCDS4220.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.769690	0.90020	.	.	ENSG00000185129	ENST00000331327	T	0.50277	0.75	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.71169	0.3308	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76203	-0.3045	10	0.59425	D	0.04	-3.9698	14.3864	0.66947	0.0:0.0:0.0:1.0	.	158	Q00577	PURA_HUMAN	E	158	ENSP00000332706:D158E	ENSP00000332706:D158E	D	+	3	2	PURA	139474424	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.378000	0.34328	2.073000	0.62155	0.533000	0.62120	GAT	PURA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251341.3		+	ENST00000331327.3	Missense_Mutation	SNP	5 : 139494240 - 139494240 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	248	48
CHML	1122	broad.mit.edu	37	1	241798700	241798700	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241798700A>C	ENST00000366553.1	-	1	532	c.369T>G	c.(367-369)ccT>ccG	p.P123P	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	123					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CCCCCAAAGAAGGATTTTTCT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	150	148			NA	NA	1		NA											NA				241798700		2203	4298	6501	SO:0001819	synonymous_variant			X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668	1122	1122			1941	protein-coding gene	gene with protein product		118825			NA	7981670	Standard	NM_001821	NM_001821	NA	Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.369T>G	1.37:g.241798700A>C		NA	B2RAB9|Q17RE0|Q9H1Y4	37	CCDS31073.1																																																																																			CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095712.1		-	ENST00000366553.1	Silent	SNP	1 : 241798700 - 241798700 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1366	34
ARHGEF25	115557	broad.mit.edu	37	12	58005689	58005689	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58005689G>A	ENST00000286494.4	+	1	472	c.12G>A	c.(10-12)ggG>ggA	p.G4G	ARHGEF25_ENST00000333972.7_Intron	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	4					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						TGCGGGGGGGGCACAAAGGGG	0.761		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	13	12			NA	NA	12		NA											NA				58005689		2165	4223	6388	SO:0001819	synonymous_variant				CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771	115557	115557		Rho guanine nucleotide exchange factors	30275	protein-coding gene	gene with protein product	RAC/CDC42 exchange factor	610215			NA	12547822	Standard	NM_133483	NM_182947	NA	Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.12G>A	12.37:g.58005689G>A		NA	A6NJH5|Q8WV84|Q96E63	37	CCDS8947.1																																																																																			ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326561.1		+	ENST00000286494.4	Silent	SNP	12 : 58005689 - 58005689 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	108	19
NFIB	4781	broad.mit.edu	37	9	14307409	14307409	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14307409C>T	ENST00000380959.3	-	2	614	c.141G>A	c.(139-141)aaG>aaA	p.K47K	NFIB_ENST00000380953.1_Silent_p.K47K|NFIB_ENST00000397575.3_Silent_p.K47K|NFIB_ENST00000380921.3_Silent_p.K47K|NFIB_ENST00000397581.2_Silent_p.K47K|NFIB_ENST00000397579.2_Silent_p.K47K|NFIB_ENST00000380934.4_Silent_p.K73K	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	47					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		TTGACATTCGCTTCTCATGCT	0.458		NA	T	MYB, HGMA2	adenoid cystic carcinoma, lipoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(132;921 1730 14828 40753 46471)		Dom	yes		9	9p24.1	4781	nuclear factor I/B		E	0													137	127	131			NA	NA	9		NA											NA				14307409		2203	4300	6503	SO:0001819	synonymous_variant			U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862	4781	4781			7785	protein-coding gene	gene with protein product		600728			NA	7590749	Standard	NM_005596	NM_001190737	NA	Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.141G>A	9.37:g.14307409C>T		NA	O00166|Q12858|Q96J45	37	CCDS6474.1																																																																																			NFIB-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055468.1		-	ENST00000380959.3	Silent	SNP	9 : 14307409 - 14307409 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	262	63
FMO2	2327	broad.mit.edu	37	1	171177942	171177942	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171177942A>G	ENST00000209929.7	+	9	1424	c.1266A>G	c.(1264-1266)gaA>gaG	p.E422E	RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000441535.1_Silent_p.E422E|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000445909.1_RNA			Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	422					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGTTTGGAGAAAGCCAGAGCC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	147	149			NA	NA	1		NA											NA				171177942		2203	4300	6503	SO:0001819	synonymous_variant			BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963	2327	2327			3770	protein-coding gene	gene with protein product		603955	flavin containing monooxygenase 2		NA	1417778, 9804831	Standard	NM_001460	XR_426768	NA	Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.1266A>G	1.37:g.171177942A>G		NA	Q5EBX4|Q9BRX1	37	CCDS1293.1																																																																																			FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086216.2		+	ENST00000209929.7	Silent	SNP	1 : 171177942 - 171177942 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	691	120
CHST15	51363	broad.mit.edu	37	10	125804220	125804220	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:125804220C>T	ENST00000346248.5	-	3	1404	c.762G>A	c.(760-762)ccG>ccA	p.P254P	CHST15_ENST00000435907.1_Silent_p.P254P|CHST15_ENST00000421115.1_Silent_p.P254P	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	254					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TGTAGAAGTGCGGCAGGCAGC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	44	44			NA	NA	10		NA											NA				125804220		2203	4300	6503	SO:0001819	synonymous_variant			AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	51363	51363	2.8.2.33	Sulfotransferases, membrane-bound	18137	protein-coding gene	gene with protein product	B cell RAG associated protein, N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase	608277			NA	9628581, 9754571, 11572857	Standard	NM_015892	NM_014863	NA	Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.762G>A	10.37:g.125804220C>T		NA	O60338|O60474|Q86VM4	37	CCDS7638.1																																																																																			CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050856.1		-	ENST00000346248.5	Silent	SNP	10 : 125804220 - 125804220 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	239	50
PARP14	54625	broad.mit.edu	37	3	122405935	122405935	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122405935G>A	ENST00000474629.2	+	3	596	c.330G>A	c.(328-330)aaG>aaA	p.K110K		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	110					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AGGAATCCAAGACCAAAGAAG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	86	88			NA	NA	3		NA											NA				122405935		1863	4109	5972	SO:0001819	synonymous_variant			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193	54625	54625		Poly (ADP-ribose) polymerases	29232	protein-coding gene	gene with protein product		610028			NA	15273990	Standard	NM_017554	NM_017554	NA	Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.330G>A	3.37:g.122405935G>A		NA	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	37	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	G	0.552	-0.849109	0.02651	.	.	ENSG00000173193	ENST00000494811	.	.	.	5.05	2.18	0.27775	.	.	.	.	.	T	0.24236	0.0587	.	.	.	0.19775	N	0.99995	.	.	.	.	.	.	T	0.21793	-1.0235	4	.	.	.	.	3.4574	0.07521	0.0919:0.1566:0.5622:0.1894	.	.	.	.	N	119	.	.	D	+	1	0	PARP14	123888625	0.394000	0.25246	0.033000	0.17914	0.408000	0.30992	0.663000	0.25053	0.267000	0.21916	0.561000	0.74099	GAC	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356173.2		+	ENST00000474629.2	Silent	SNP	3 : 122405935 - 122405935 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	61	6
GATAD2B	57459	broad.mit.edu	37	1	153791334	153791334	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153791334T>G	ENST00000368655.4	-	4	773	c.530A>C	c.(529-531)gAa>gCa	p.E177A		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	177	CR1.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGTCGGGCTTCTTCCAATCG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	129	130			NA	NA	1		NA											NA				153791334		2203	4300	6503	SO:0001583	missense			AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614	57459	57459		GATA zinc finger domain containing	30778	protein-coding gene	gene with protein product	transcription repressor p66 beta component of the MeCP1 complex	614998			NA	10574461, 11756549	Standard	NM_020699	NM_020699	NA	Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.530A>C	1.37:g.153791334T>G	ENSP00000357644:p.Glu177Ala	NA	D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	37	CCDS1054.1	.	.	.	.	.	.	.	.	.	.	T	33	5.211116	0.95069	.	.	ENSG00000143614	ENST00000368655	T	0.77229	-1.08	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.83119	0.5185	M	0.61703	1.905	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	D	0.85598	0.1250	10	0.87932	D	0	-8.8656	15.1851	0.72993	0.0:0.0:0.0:1.0	.	177	Q8WXI9	P66B_HUMAN	A	177	ENSP00000357644:E177A	ENSP00000357644:E177A	E	-	2	0	GATAD2B	152057958	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.018000	0.88722	2.231000	0.72958	0.459000	0.35465	GAA	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090305.1		-	ENST00000368655.4	Missense_Mutation	SNP	1 : 153791334 - 153791334 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	701	125
NLRP2	55655	broad.mit.edu	37	19	55501543	55501543	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55501543C>T	ENST00000543010.1	+	9	2663	c.2520C>T	c.(2518-2520)tgC>tgT	p.C840C	NLRP2_ENST00000339757.7_Silent_p.C818C|NLRP2_ENST00000263437.6_Silent_p.C837C|NLRP2_ENST00000427260.2_Silent_p.C817C|NLRP2_ENST00000448584.2_Silent_p.C840C|NLRP2_ENST00000538819.1_Silent_p.C816C|NLRP2_ENST00000391721.4_Silent_p.C816C|NLRP2_ENST00000537859.1_Silent_p.C818C	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	840					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ACCCCAAGTGCTTTCTGCAGA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	90	95			NA	NA	19		NA											NA				55501543		2203	4300	6503	SO:0001819	synonymous_variant			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556	55655	55655		Nucleotide-binding domain and leucine rich repeat containing	22948	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2	609364	NACHT, leucine rich repeat and PYD containing 2	NALP2	NA	12563287, 11270363	Standard	NM_017852	NM_001174081	NA	Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2520C>T	19.37:g.55501543C>T		NA	Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	37	CCDS12913.1																																																																																			NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396152.1		+	ENST00000543010.1	Silent	SNP	19 : 55501543 - 55501543 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	461	94
CFLAR	8837	broad.mit.edu	37	2	201994608	201994608	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201994608A>G	ENST00000342795.5	+	2	400	c.20A>G	c.(19-21)cAt>cGt	p.H7R	CFLAR_ENST00000440180.1_Missense_Mutation_p.H7R|CFLAR_ENST00000457277.1_Missense_Mutation_p.H7R|CFLAR_ENST00000340870.5_Missense_Mutation_p.H7R|CFLAR_ENST00000395148.2_Missense_Mutation_p.H7R|CFLAR_ENST00000341582.6_Missense_Mutation_p.H7R|CFLAR_ENST00000309955.3_Missense_Mutation_p.H7R|CFLAR_ENST00000341222.6_Missense_Mutation_p.H7R|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000423241.2_Missense_Mutation_p.H7R|CFLAR_ENST00000355558.4_Missense_Mutation_p.H7R			O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	7	DED 1.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						GAAGTCATCCATCAGGTTGAA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(16;548 657 22190 32864 42338)							NA				0													171	167	169			NA	NA	2		NA											NA				201994608		2203	4300	6503	SO:0001583	missense			AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402	8837	8837		Endogenous ligands	1876	protein-coding gene	gene with protein product		603599		CASP8AP1	NA	9208847, 9217161	Standard	NM_003879	NM_003879	NA	Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000342795.5:c.20A>G	2.37:g.201994608A>G	ENSP00000342809:p.His7Arg	NA	B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	37		.	.	.	.	.	.	.	.	.	.	A	13.84	2.358134	0.41801	.	.	ENSG00000003402	ENST00000309955;ENST00000341222;ENST00000355558;ENST00000340870;ENST00000341582;ENST00000342795;ENST00000395148;ENST00000441224;ENST00000433445;ENST00000423241;ENST00000425030;ENST00000417748;ENST00000440180;ENST00000457277	T;T;T;T;T;T;T;T;T	0.48201	3.72;0.82;0.82;3.59;4.0;0.86;3.72;0.82;3.59	5.9	3.44	0.39384	DEATH-like (2);Death effector (3);	0.383959	0.31221	N	0.008038	T	0.60534	0.2276	M	0.66939	2.045	0.38335	D	0.943914	P;D;D;D;P;D;P	0.76494	0.899;0.999;0.999;0.999;0.876;0.967;0.899	P;D;D;D;P;P;P	0.70716	0.834;0.95;0.95;0.97;0.794;0.744;0.901	T	0.59016	-0.7533	10	0.22109	T	0.4	-10.5801	10.0593	0.42263	0.7312:0.0:0.0:0.2688	.	7;7;7;7;7;7;7	C9JK38;O15519-11;O15519-8;O15519;O15519-12;O15519-2;E9PAP3	.;.;.;CFLAR_HUMAN;.;.;.	R	7	ENSP00000312455:H7R;ENSP00000339335:H7R;ENSP00000347757:H7R;ENSP00000339326:H7R;ENSP00000345807:H7R;ENSP00000342809:H7R;ENSP00000399420:H7R;ENSP00000406775:H7R;ENSP00000411535:H7R	ENSP00000312455:H7R	H	+	2	0	CFLAR	201702853	1.000000	0.71417	0.990000	0.47175	0.091000	0.18340	3.037000	0.49775	0.434000	0.26340	0.460000	0.39030	CAT	CFLAR-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000336701.1		+	ENST00000342795.5	Missense_Mutation	SNP	2 : 201994608 - 201994608 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	923	218
DGCR2	9993	broad.mit.edu	37	22	19028666	19028666	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19028666G>A	ENST00000263196.7	-	9	1548	c.1301C>T	c.(1300-1302)aCg>aTg	p.T434M	DGCR2_ENST00000545799.1_3'UTR|DGCR2_ENST00000537045.1_Missense_Mutation_p.T393M	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	434					cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CTTGTATGCCGTGTAGGGAGG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	89	97			NA	NA	22		NA											NA				19028666		2203	4300	6503	SO:0001583	missense			D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413	9993	9993			2845	protein-coding gene	gene with protein product	integral membrane protein DGCR2	600594			NA	7655455, 8630060	Standard	NM_005137	NM_005137	NA	Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.1301C>T	22.37:g.19028666G>A	ENSP00000263196:p.Thr434Met	NA	A6NIB5|A8K6K5	37	CCDS33598.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790750	0.90367	.	.	ENSG00000070413	ENST00000537045;ENST00000263196	T;D	0.97161	0.84;-4.27	5.97	5.97	0.96955	.	0.044331	0.85682	D	0.000000	D	0.98108	0.9376	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.67103	0.949;0.891	D	0.97900	1.0302	10	0.48119	T	0.1	.	20.0384	0.97572	0.0:0.0:1.0:0.0	.	390;434	B7Z3T5;P98153	.;IDD_HUMAN	M	393;434	ENSP00000440062:T393M;ENSP00000263196:T434M	ENSP00000263196:T434M	T	-	2	0	DGCR2	17408666	1.000000	0.71417	0.975000	0.42487	0.760000	0.43138	7.890000	0.87313	2.837000	0.97791	0.655000	0.94253	ACG	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316504.1		-	ENST00000263196.7	Missense_Mutation	SNP	22 : 19028666 - 19028666 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	400	68
RP11-144F15.1	0	broad.mit.edu	37	12	107126802	107126802	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107126802G>A	ENST00000551505.1	-	1	229				RP11-482D24.3_ENST00000552415.1_RNA|RFX4_ENST00000357881.4_Silent_p.V533V|RFX4_ENST00000229387.5_Silent_p.V430V|RFX4_ENST00000392842.1_Silent_p.V524V						NA											NA						CTGTGGAAGTGCCACCTCCCT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	148	153			NA	NA	12		NA											NA				107126802		2203	4300	6503	SO:0001627	intron_variant											NA	NA			NA							NA					NA						ENST00000551505.1:c.209+41665C>T	12.37:g.107126802G>A		NA		37																																																																																				RP11-144F15.1-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000407171.1		-	ENST00000551505.1	Intron	SNP	12 : 107126802 - 107126802 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	620	131
LCP1	3936	broad.mit.edu	37	13	46733793	46733793	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46733793G>A	ENST00000398576.2	-	5	393	c.5C>T	c.(4-6)gCc>gTc	p.A2V	LCP1_ENST00000323076.2_Missense_Mutation_p.A2V|LCP1_ENST00000460190.1_5'UTR			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	2					regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TGATCCTCTGGCCATTTTTTA	0.388		NA	T	BCL6	NHL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		13	13q14.1-q14.3	3936	lymphocyte cytosolic protein 1 (L-plastin)		L	0													138	121	127			NA	NA	13		NA											NA				46733793		2203	4300	6503	SO:0001583	missense			M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167	3936	3936		EF-hand domain containing	6528	protein-coding gene	gene with protein product	plastin 2	153430			NA	2111166	Standard	NM_002298	NM_002298	NA	Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.5C>T	13.37:g.46733793G>A	ENSP00000381581:p.Ala2Val	NA	B2R613|Q5TBN4	37	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012336	0.75046	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000416500;ENST00000442275	T;T;T;T	0.74421	-0.84;-0.84;0.29;-0.03	5.13	5.13	0.70059	.	0.109676	0.64402	D	0.000011	T	0.66694	0.2815	L	0.35723	1.085	0.80722	D	1	B	0.32573	0.376	B	0.30646	0.118	T	0.70114	-0.4961	10	0.72032	D	0.01	-15.4324	16.1014	0.81175	0.0:0.0:1.0:0.0	.	2	P13796	PLSL_HUMAN	V	2	ENSP00000315757:A2V;ENSP00000381581:A2V;ENSP00000408052:A2V;ENSP00000402157:A2V	ENSP00000315757:A2V	A	-	2	0	LCP1	45631794	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.708000	0.61859	2.532000	0.85374	0.655000	0.94253	GCC	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044800.3		-	ENST00000398576.2	Missense_Mutation	SNP	13 : 46733793 - 46733793 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	56
BRD2	6046	broad.mit.edu	37	6	32947695	32947695	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32947695C>T	ENST00000374825.4	+	11	3633	c.1932C>T	c.(1930-1932)taC>taT	p.Y644Y	BRD2_ENST00000443797.2_Silent_p.Y524Y|BRD2_ENST00000395289.2_Silent_p.Y679Y|BRD2_ENST00000449085.2_Silent_p.Y597Y|BRD2_ENST00000374831.4_Silent_p.Y644Y|BRD2_ENST00000395287.1_Silent_p.Y679Y	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	644	ET.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CCATGAGTTACGATGAGAAGC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	52	52			NA	NA	6		NA											NA				32947695		1511	2709	4220	SO:0001819	synonymous_variant			X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256	6046	6046			1103	protein-coding gene	gene with protein product		601540	bromodomain-containing 2		NA	1352711, 8781126	Standard		NM_005104	NA	Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.1932C>T	6.37:g.32947695C>T		NA	B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q6P3U2|Q969U4	37	CCDS4762.1	.	.	.	.	.	.	.	.	.	.	C	9.729	1.161641	0.21538	.	.	ENSG00000204256	ENST00000449025	.	.	.	5.51	-7.03	0.01584	.	.	.	.	.	T	0.49660	0.1570	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64394	-0.6418	4	.	.	.	-11.7188	16.3828	0.83481	0.0:0.271:0.0:0.729	.	.	.	.	M	650	.	.	T	+	2	0	BRD2	33055673	0.000000	0.05858	0.535000	0.28026	0.992000	0.81027	-2.064000	0.01387	-1.651000	0.01504	-0.152000	0.13540	ACG	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076503.2		+	ENST00000374825.4	Silent	SNP	6 : 32947695 - 32947695 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	224	39
KAT2A	2648	broad.mit.edu	37	17	40267794	40267794	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40267794G>A	ENST00000225916.5	-	12	1875	c.1822C>T	c.(1822-1824)Ctc>Ttc	p.L608F		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	608	N-acetyltransferase.				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						AGGAAGTAGAGAATGTTGTGC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													257	233	241			NA	NA	17		NA											NA				40267794		2203	4300	6503	SO:0001583	missense			AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773	2648	2648		Chromatin-modifying enzymes / K-acetyltransferases	4201	protein-coding gene	gene with protein product		602301	GCN5 general control of amino-acid synthesis 5-like 2 (yeast)	GCN5L2	NA	8552087	Standard	NM_021078	NM_021078	NA	Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.1822C>T	17.37:g.40267794G>A	ENSP00000225916:p.Leu608Phe	NA	Q8N1A2|Q9UCW1	37	CCDS11417.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927266	0.92389	.	.	ENSG00000108773	ENST00000225916	T	0.05925	3.37	5.32	5.32	0.75619	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.15825	0.0381	L	0.33485	1.01	0.80722	D	1	D	0.63880	0.993	P	0.61874	0.895	T	0.00842	-1.1544	10	0.56958	D	0.05	-26.4525	18.5847	0.91185	0.0:0.0:1.0:0.0	.	608	Q92830	KAT2A_HUMAN	F	608	ENSP00000225916:L608F	ENSP00000225916:L608F	L	-	1	0	KAT2A	37521320	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.869000	0.99810	2.488000	0.83962	0.462000	0.41574	CTC	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257458.1		-	ENST00000225916.5	Missense_Mutation	SNP	17 : 40267794 - 40267794 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	832	127
BAIAP2	10458	broad.mit.edu	37	17	79059520	79059520	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79059520C>A	ENST00000321300.6	+	5	439	c.346C>A	c.(346-348)Ctg>Atg	p.L116M	BAIAP2_ENST00000428708.2_Missense_Mutation_p.L116M|BAIAP2_ENST00000392411.3_Missense_Mutation_p.L38M|BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000435091.3_Missense_Mutation_p.L116M|BAIAP2_ENST00000321280.7_Missense_Mutation_p.L116M|BAIAP2_ENST00000575245.1_Missense_Mutation_p.L149M|BAIAP2_ENST00000575712.1_Missense_Mutation_p.L116M	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	116	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)			CTCCAGGTATCTGAGTGTAAG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	72	76			NA	NA	17		NA											NA				79059520		2203	4300	6503	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	ENST00000321300.6:c.346C>A	17.37:g.79059520C>A	ENSP00000316338:p.Leu116Met	NA	O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	37	CCDS11775.1	.	.	.	.	.	.	.	.	.	.	C	9.590	1.125868	0.20959	.	.	ENSG00000175866	ENST00000321300;ENST00000428708;ENST00000435091;ENST00000321280;ENST00000392411	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.76	4.01	4.01	0.46588	IRSp53/MIM homology domain (IMD) (3);	0.000000	0.64402	D	0.000003	T	0.45034	0.1322	N	0.16862	0.45	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.979;0.974;1.0;1.0;0.979	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.942;0.921;1.0;1.0;0.942	T	0.24512	-1.0158	10	0.11182	T	0.66	-36.3918	15.94	0.79747	0.0:1.0:0.0:0.0	.	38;117;116;116;116;116;116;116	F8W878;B3KPV9;Q9UQB8;Q9UQB8-2;Q9UQB8-3;Q9UQB8-5;Q9UQB8-6;Q9UQB8-4	.;.;BAIP2_HUMAN;.;.;.;.;.	M	116;116;116;116;38	ENSP00000316338:L116M;ENSP00000401022:L116M;ENSP00000413069:L116M;ENSP00000315685:L116M;ENSP00000376211:L38M	ENSP00000315685:L116M	L	+	1	2	BAIAP2	76674115	0.998000	0.40836	1.000000	0.80357	0.985000	0.73830	2.725000	0.47294	2.066000	0.61787	0.655000	0.94253	CTG	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438553.1		+	ENST00000321300.6	Missense_Mutation	SNP	17 : 79059520 - 79059520 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	47
ATE1	11101	broad.mit.edu	37	10	123600741	123600741	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123600741C>T	ENST00000369043.3	-	9	1099	c.1013G>A	c.(1012-1014)gGc>gAc	p.G338D	ATE1_ENST00000369040.3_Missense_Mutation_p.G242D|ATE1_ENST00000224652.6_Missense_Mutation_p.G338D|ATE1_ENST00000481784.1_5'UTR|ATE1_ENST00000535655.1_Missense_Mutation_p.G39D|ATE1_ENST00000543447.1_Missense_Mutation_p.G223D|ATE1_ENST00000540606.1_Missense_Mutation_p.G331D	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	338					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				GTGAAAGGAGCCATAGCCACA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	41	43			NA	NA	10		NA											NA				123600741		2203	4300	6503	SO:0001583	missense			AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	11101	11101	2.3.2.8		782	protein-coding gene	gene with protein product		607103			NA	16002466, 16943202	Standard	NM_001001976	XM_005269458	NA	Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000369043.3:c.1013G>A	10.37:g.123600741C>T	ENSP00000358039:p.Gly338Asp	NA	O95261|Q5SQQ3|Q8WW04	37	CCDS31299.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.393504|5.393504	0.96009|0.96009	.|.	.|.	ENSG00000107669|ENSG00000107669	ENST00000369043;ENST00000535655;ENST00000224652;ENST00000369040;ENST00000540606;ENST00000543447|ENST00000423243	.|.	.|.	.|.	5.64|5.64	5.64|5.64	0.86602|0.86602	Arginine-tRNA-protein transferase, C-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.86451|.	0.5936|.	M|M	0.91972|0.91972	3.26|3.26	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.998;0.999;1.0;0.999|.	D|.	0.88736|.	0.3240|.	9|.	0.87932|.	D|.	0|.	-17.8215|-17.8215	19.7174|19.7174	0.96129|0.96129	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	331;242;338;338|.	F5GXE4;B4E107;O95260;O95260-2|.	.;.;ATE1_HUMAN;.|.	D|X	338;39;338;242;331;223|334	.|.	ENSP00000224652:G338D|.	G|W	-|-	2|3	0|0	ATE1|ATE1	123590731|123590731	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.786000|7.786000	0.85741|0.85741	2.653000|2.653000	0.90120|0.90120	0.655000|0.655000	0.94253|0.94253	GGC|TGG	ATE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050738.1		-	ENST00000369043.3	Missense_Mutation	SNP	10 : 123600741 - 123600741 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	135	24
BCL11A	53335	broad.mit.edu	37	2	60688595	60688595	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:60688595G>A	ENST00000335712.6	-	4	1679	c.1452C>T	c.(1450-1452)gaC>gaT	p.D484D	BCL11A_ENST00000537768.1_Silent_p.D153D|BCL11A_ENST00000358510.4_Silent_p.D450D|BCL11A_ENST00000538214.1_Silent_p.D450D|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Silent_p.D484D|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	484	Glu-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			cttcctcctcgtccccgttct	0.632		NA	T	IGH@	B-CLL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		2	2p13	53335	B-cell CLL/lymphoma 11A		L	0													17	17	17			NA	NA	2		NA											NA				60688595		2201	4295	6496	SO:0001819	synonymous_variant			AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866	53335	53335		Zinc fingers, C2H2-type	13221	protein-coding gene	gene with protein product		606557	ecotropic viral integration site 9	EVI9	NA	11719382, 18245381	Standard	NM_022893	NM_018014	NA	Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1452C>T	2.37:g.60688595G>A		NA	D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	37	CCDS1862.1																																																																																			BCL11A-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251579.2		-	ENST00000335712.6	Silent	SNP	2 : 60688595 - 60688595 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	141	36
CAT	847	broad.mit.edu	37	11	34482810	34482810	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:34482810G>A	ENST00000241052.4	+	9	1158	c.1069G>A	c.(1069-1071)Gcc>Acc	p.A357T		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	357					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	CCGCCTTTTTGCCTATCCTGA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	136	137			NA	NA	11		NA											NA				34482810		2202	4298	6500	SO:0001583	missense			AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	847	847	1.11.1.6		1516	protein-coding gene	gene with protein product		115500			NA		Standard	NM_001752	NM_001752	NA	Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.1069G>A	11.37:g.34482810G>A	ENSP00000241052:p.Ala357Thr	NA	A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	37	CCDS7891.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.785119	0.49997	.	.	ENSG00000121691	ENST00000241052	D	0.93019	-3.15	4.98	-2.58	0.06228	Catalase domain (1);Catalase, N-terminal (2);	0.178585	0.49916	D	0.000137	D	0.94162	0.8127	M	0.87682	2.9	0.41829	D	0.990061	P	0.37914	0.611	B	0.41860	0.368	D	0.92138	0.5718	10	0.72032	D	0.01	-9.7713	18.9336	0.92576	0.0:0.0:0.2394:0.7606	.	357	P04040	CATA_HUMAN	T	357	ENSP00000241052:A357T	ENSP00000241052:A357T	A	+	1	0	CAT	34439386	0.983000	0.35010	0.977000	0.42913	0.951000	0.60555	0.504000	0.22626	-0.437000	0.07243	-1.404000	0.01136	GCC	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000103197.2		+	ENST00000241052.4	Missense_Mutation	SNP	11 : 34482810 - 34482810 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	789	138
NFE2L3	9603	broad.mit.edu	37	7	26225340	26225340	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:26225340A>C	ENST00000056233.3	+	4	2281	c.2022A>C	c.(2020-2022)atA>atC	p.I674I		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	674					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GTATCTTGATAGTACCCAAAG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	60	59			NA	NA	7		NA											NA				26225340		2203	4296	6499	SO:0001819	synonymous_variant			AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344	9603	9603		basic leucine zipper proteins	7783	protein-coding gene	gene with protein product		604135	nuclear factor (erythroid-derived 2)-like 3		NA	10037736	Standard		NM_004289	NA	Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.2022A>C	7.37:g.26225340A>C		NA	Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	37	CCDS5396.1																																																																																			NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214088.1		+	ENST00000056233.3	Silent	SNP	7 : 26225340 - 26225340 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	473	92
CACNA1E	777	broad.mit.edu	37	1	181693628	181693628	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181693628G>A	ENST00000526775.1	+	17	2262	c.2097G>A	c.(2095-2097)ttG>ttA	p.L699L	CACNA1E_ENST00000360108.3_Silent_p.L699L|CACNA1E_ENST00000367573.2_Silent_p.L699L|CACNA1E_ENST00000357570.5_Silent_p.L650L|CACNA1E_ENST00000367567.4_Silent_p.L306L|CACNA1E_ENST00000367570.1_Silent_p.L699L|CACNA1E_ENST00000358338.5_Silent_p.L650L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	699					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ATGTGTTCTTGGCTATCGCTG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	131	134			NA	NA	1		NA											NA				181693628		1981	4170	6151	SO:0001819	synonymous_variant			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216	777	777		Calcium channel subunits, Voltage-gated ion channels / Calcium channels, EF-hand domain containing	1392	protein-coding gene	gene with protein product		601013		CACNL1A6	NA	8388125, 16382099	Standard	NM_000721	NM_001205293	NA	Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000526775.1:c.2097G>A	1.37:g.181693628G>A		NA	B1AM12|B1AM13|B1AM14|Q14580|Q14581	37	CCDS55665.1																																																																																			CACNA1E-002	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090792.2		+	ENST00000526775.1	Silent	SNP	1 : 181693628 - 181693628 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	114	21
FBF1	85302	broad.mit.edu	37	17	73915865	73915865	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73915865C>T	ENST00000586717.1	-	19	2253	c.1980G>A	c.(1978-1980)tcG>tcA	p.S660S	FBF1_ENST00000389570.4_Silent_p.S660S|FBF1_ENST00000319129.5_Silent_p.S659S			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	659										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						CCTGGCACTGCGACAGATACC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	74	73			NA	NA	17		NA											NA				73915865		2036	4187	6223	SO:0001819	synonymous_variant			AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878	85302	85302			24674	protein-coding gene	gene with protein product	albatross				NA	11347906	Standard	NM_001080542	NM_001080542	NA	Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.1980G>A	17.37:g.73915865C>T		NA		37																																																																																				FBF1-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000448945.2		-	ENST00000586717.1	Silent	SNP	17 : 73915865 - 73915865 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	50
DIRAS1	148252	broad.mit.edu	37	19	2717685	2717685	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2717685G>A	ENST00000323469.4	-	2	303	c.120C>T	c.(118-120)atC>atT	p.I40I	DIRAS1_ENST00000585334.1_Silent_p.I40I	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	40					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				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)		AGGTGTCCTCGATGGTGGGGA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	76	83			NA	NA	19		NA											NA				2717685		2203	4299	6502	SO:0001819	synonymous_variant			BC030660	CCDS12092.1	19p13.3	2014-05-09				ENSG00000176490	NA	148252			19127	protein-coding gene	gene with protein product		607862			NA	12107278	Standard		NM_145173	NA	Approved	Di-Ras1, GBTS1, RIG	uc002lwf.3	O95057		ENST00000323469.4:c.120C>T	19.37:g.2717685G>A		NA		37	CCDS12092.1																																																																																			DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451350.1		-	ENST00000323469.4	Silent	SNP	19 : 2717685 - 2717685 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	444	82
IGFBP4	3487	broad.mit.edu	37	17	38610230	38610230	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38610230C>T	ENST00000269593.4	+	3	833	c.558C>T	c.(556-558)gcC>gcT	p.A186A	IGFBP4_ENST00000542955.1_Silent_p.A86A	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	186	Thyroglobulin type-1.				DNA metabolic process|signal transduction|skeletal system development					NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			AGCGGCTGGCCGCTTCACAGA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(160;940 3581 26177)							NA				0													67	67	67			NA	NA	17		NA											NA				38610230		2203	4300	6503	SO:0001819	synonymous_variant			M38177	CCDS11367.1	17q21.2	2014-09-16	2001-11-28		ENSG00000141753	ENSG00000141753	3487	3487			5473	protein-coding gene	gene with protein product	IGF-binding protein 4	146733	insulin-like growth factor-binding protein 4		NA	1707125, 1704481	Standard	NM_001552	NM_001552	NA	Approved	IBP4, BP-4, HT29-IGFBP, IGFBP-4	uc002hus.3	P22692	OTTHUMG00000133326	ENST00000269593.4:c.558C>T	17.37:g.38610230C>T		NA	A0N9W2|Q5U012|Q9UCL6	37	CCDS11367.1																																																																																			IGFBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257134.1		+	ENST00000269593.4	Silent	SNP	17 : 38610230 - 38610230 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	659	97
KCNQ5	56479	broad.mit.edu	37	6	73904434	73904434	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:73904434C>T	ENST00000342056.2	+	15	2551	c.2153C>T	c.(2152-2154)gCc>gTc	p.A718V	KCNQ5_ENST00000355635.3_Missense_Mutation_p.A700V|KCNQ5_ENST00000355194.4_Missense_Mutation_p.A699V|KCNQ5_ENST00000414165.2_Missense_Mutation_p.A589V|KCNQ5_ENST00000403813.2_Missense_Mutation_p.A690V|KCNQ5_ENST00000402622.2_Missense_Mutation_p.A709V|KCNQ5_ENST00000370398.1_Missense_Mutation_p.A699V	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	699					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GAGTTCAGTGCCCAGACTTTC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(142;1375 1859 14391 23261 44706)							NA				0													135	134	134			NA	NA	6		NA											NA				73904434		2203	4300	6503	SO:0001583	missense			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760	56479	56479		Potassium channels, Voltage-gated ion channels / Potassium channels	6299	protein-coding gene	gene with protein product		607357			NA	10787416, 10816588, 16382104	Standard	NM_019842	NM_019842	NA	Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000342056.2:c.2153C>T	6.37:g.73904434C>T	ENSP00000345055:p.Ala718Val	NA	B5MC83|B7ZL37|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	37	CCDS55034.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.954657	0.34471	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99369	-5.57;-5.57;-5.57;-5.57;-5.58;-5.61;-5.78	5.32	5.32	0.75619	.	0.212896	0.39341	N	0.001382	D	0.96516	0.8863	L	0.40543	1.245	0.25032	N	0.991266	B;B;B;B;B	0.24368	0.102;0.004;0.046;0.076;0.046	B;B;B;B;B	0.27380	0.079;0.026;0.045;0.047;0.045	D	0.93106	0.6512	10	0.38643	T	0.18	-5.5489	14.5834	0.68308	0.0:0.8541:0.1459:0.0	.	589;709;718;690;699	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	V	718;718;699;699;709;700;690;589	ENSP00000345055:A718V;ENSP00000347326:A699V;ENSP00000359425:A699V;ENSP00000385501:A709V;ENSP00000347853:A700V;ENSP00000384453:A690V;ENSP00000409861:A589V	ENSP00000345055:A718V	A	+	2	0	KCNQ5	73961155	0.997000	0.39634	0.859000	0.33776	0.975000	0.68041	3.482000	0.53186	2.486000	0.83907	0.561000	0.74099	GCC	KCNQ5-006	NOVEL	not_organism_supported|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316124.1		+	ENST00000342056.2	Missense_Mutation	SNP	6 : 73904434 - 73904434 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	786	129
ENDOV	284131	broad.mit.edu	37	17	78398856	78398856	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78398856G>A	ENST00000517295.2	+	5	466	c.292G>A	c.(292-294)Gac>Aac	p.D98N	ENDOV_ENST00000522751.1_5'UTR|ENDOV_ENST00000323854.5_Missense_Mutation_p.D136N|ENDOV_ENST00000518137.1_Missense_Mutation_p.D181N|ENDOV_ENST00000517795.1_5'UTR|ENDOV_ENST00000520367.1_Missense_Mutation_p.D136N|ENDOV_ENST00000518901.1_5'UTR|ENDOV_ENST00000518907.1_5'UTR|ENDOV_ENST00000520284.1_5'UTR			Q8N8Q3	ENDOV_HUMAN	endonuclease V	181					DNA repair		endodeoxyribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding			endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						GACTCGAGGAGACTCATTCCC	0.537		NA						Direct reversal of damage						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	51	51			NA	NA	17		NA											NA				78398856		1917	4119	6036	SO:0001583	missense				CCDS54172.1, CCDS54173.1, CCDS54174.1	17q25.3	2011-05-05			ENSG00000173818	ENSG00000173818	284131	284131			26640	protein-coding gene	gene with protein product					NA	12853604	Standard	NM_173627	NM_001164638	NA	Approved	FLJ35220	uc021ueo.1	Q8N8Q3	OTTHUMG00000164638	ENST00000517295.2:c.292G>A	17.37:g.78398856G>A	ENSP00000428283:p.Asp98Asn	NA	Q6P2G2|Q86X99|Q8NAK0	37		.	.	.	.	.	.	.	.	.	.	G	12.94	2.089188	0.36855	.	.	ENSG00000173818	ENST00000518137;ENST00000520367;ENST00000323854;ENST00000517295	T;T;T	0.16597	2.33;2.33;2.33	4.2	4.2	0.49525	.	0.176975	0.47852	D	0.000208	T	0.22475	0.0542	M	0.67569	2.06	0.41759	D	0.989707	B;B;B	0.28082	0.007;0.019;0.2	B;B;B	0.31290	0.084;0.034;0.127	T	0.05599	-1.0875	10	0.41790	T	0.15	-13.8738	14.4854	0.67614	0.0:0.0:1.0:0.0	.	181;136;136	Q8N8Q3;Q8N8Q3-2;Q8N8Q3-3	ENDOV_HUMAN;.;.	N	181;136;136;156	ENSP00000429190:D181N;ENSP00000431036:D136N;ENSP00000317810:D136N	ENSP00000317810:D136N	D	+	1	0	ENDOV	76013451	1.000000	0.71417	0.455000	0.27031	0.064000	0.16182	7.642000	0.83385	2.149000	0.67028	0.457000	0.33378	GAC	ENDOV-026	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000379632.4		+	ENST00000517295.2	Missense_Mutation	SNP	17 : 78398856 - 78398856 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	124	26
NOP9	161424	broad.mit.edu	37	14	24772330	24772330	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24772330C>T	ENST00000267425.3	+	6	1287	c.1194C>T	c.(1192-1194)gcC>gcT	p.A398A	NOP9_ENST00000396802.3_Silent_p.A398A	NM_174913.1	NP_777573.1			NOP9 nucleolar protein	NA											NA						CTGTATTGGCCCAGGGCCACC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	78	79			NA	NA	14		NA											NA				24772330		2203	4300	6503	SO:0001819	synonymous_variant				CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943	161424	161424			19826	protein-coding gene	gene with protein product			chromosome 14 open reading frame 21, NOP9 nucleolar protein homolog (yeast)	C14orf21	NA	21653694	Standard		XM_005267385	NA	Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.1194C>T	14.37:g.24772330C>T		NA		37	CCDS9624.1	.	.	.	.	.	.	.	.	.	.	C	9.639	1.138542	0.21123	.	.	ENSG00000196943	ENST00000557362	.	.	.	5.16	-5.85	0.02311	.	.	.	.	.	T	0.35098	0.0920	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39057	-0.9632	4	.	.	.	-10.4345	1.1116	0.01705	0.2178:0.2927:0.107:0.3825	.	.	.	.	L	24	.	.	P	+	2	0	C14orf21	23842170	0.016000	0.18221	0.909000	0.35828	0.779000	0.44077	-2.151000	0.01289	-0.965000	0.03591	-0.244000	0.11960	CCC	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000073186.2		+	ENST00000267425.3	Silent	SNP	14 : 24772330 - 24772330 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	429	63
GFOD1	54438	broad.mit.edu	37	6	13365177	13365177	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:13365177C>T	ENST00000379287.3	-	2	1635	c.971G>A	c.(970-972)cGc>cAc	p.R324H	GFOD1_ENST00000379284.1_Missense_Mutation_p.R221H	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	324						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			ATCCCACGTGCGCCGGTCGTC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	44	44			NA	NA	6		NA											NA				13365177		2203	4299	6502	SO:0001583	missense			AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990	54438	54438			21096	protein-coding gene	gene with protein product			chromosome 6 open reading frame 114	C6orf114	NA		Standard	NM_018988	NM_018988	NA	Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.971G>A	6.37:g.13365177C>T	ENSP00000368589:p.Arg324His	NA	A8E4L6|Q5T058|Q96JD4|Q9H5K2	37	CCDS4524.1	.	.	.	.	.	.	.	.	.	.	C	35	5.427283	0.96131	.	.	ENSG00000145990	ENST00000379287;ENST00000379284	T;T	0.48836	1.41;0.8	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.53722	0.1814	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	P	0.62184	0.899	T	0.40739	-0.9547	10	0.23891	T	0.37	-11.6292	18.5979	0.91235	0.0:1.0:0.0:0.0	.	324	Q9NXC2	GFOD1_HUMAN	H	324;221	ENSP00000368589:R324H;ENSP00000368586:R221H	ENSP00000368586:R221H	R	-	2	0	GFOD1	13473156	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.622000	0.88805	0.555000	0.69702	CGC	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039902.1		-	ENST00000379287.3	Missense_Mutation	SNP	6 : 13365177 - 13365177 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	390	86
HERC1	8925	broad.mit.edu	37	15	64050478	64050478	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64050478C>T	ENST00000443617.2	-	4	1204	c.1117G>A	c.(1117-1119)Gag>Aag	p.E373K		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	373					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ACATAAACCTCACAGGTTTCG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	98	99			NA	NA	15		NA											NA				64050478		1872	4114	5986	SO:0001583	missense			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657	8925	8925		WD repeat domain containing	4867	protein-coding gene	gene with protein product		605109	hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1		NA	8861955, 9233772	Standard	NM_003922	NM_003922	NA	Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.1117G>A	15.37:g.64050478C>T	ENSP00000390158:p.Glu373Lys	NA	Q8IW65	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	36	5.712006	0.96830	.	.	ENSG00000103657	ENST00000443617	D	0.84800	-1.9	5.35	5.35	0.76521	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (1);	0.000000	0.64402	U	0.000001	D	0.88676	0.6501	L	0.37630	1.12	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.62885	0.908;0.908	D	0.89424	0.3712	10	0.66056	D	0.02	.	19.4276	0.94749	0.0:1.0:0.0:0.0	.	373;373	C9JUT5;Q15751	.;HERC1_HUMAN	K	373	ENSP00000390158:E373K	ENSP00000390158:E373K	E	-	1	0	HERC1	61837531	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.750000	0.85110	2.647000	0.89833	0.655000	0.94253	GAG	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418523.1		-	ENST00000443617.2	Missense_Mutation	SNP	15 : 64050478 - 64050478 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	222	46
ITPRIPL1	150771	broad.mit.edu	37	2	96992435	96992435	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96992435T>C	ENST00000361124.4	+	1	501	c.90T>C	c.(88-90)gtT>gtC	p.V30V	ITPRIPL1_ENST00000439118.2_Silent_p.V22V|ITPRIPL1_ENST00000536814.1_Silent_p.V14V|ITPRIPL1_ENST00000542887.1_Silent_p.V14V	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	22						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGATGTATGTTGTTCACCACC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	133	142			NA	NA	2		NA											NA				96992435		2203	4300	6503	SO:0001819	synonymous_variant				CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885	150771	150771			29371	protein-coding gene	gene with protein product			KIAA1754-like, inositol 1,4,5-triphosphate receptor interacting protein-like 1	KIAA1754L	NA	12477932	Standard	NM_178495	NM_178495	NA	Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000361124.4:c.90T>C	2.37:g.96992435T>C		NA	Q8NE61	37	CCDS33250.1	.	.	.	.	.	.	.	.	.	.	T	6.629	0.484444	0.12641	.	.	ENSG00000198885	ENST00000420728	.	.	.	4.89	-4.61	0.03380	.	.	.	.	.	T	0.51702	0.1690	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50980	-0.8763	4	.	.	.	-6.2416	9.4413	0.38670	0.0:0.1531:0.6099:0.237	.	.	.	.	S	54	.	.	L	+	2	0	ITPRIPL1	96356162	0.000000	0.05858	0.896000	0.35187	0.999000	0.98932	-4.207000	0.00274	-1.018000	0.03363	0.533000	0.62120	TTG	ITPRIPL1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000338895.2		+	ENST00000361124.4	Silent	SNP	2 : 96992435 - 96992435 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	560	103
SLC6A3	6531	broad.mit.edu	37	5	1414875	1414875	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1414875C>T	ENST00000270349.9	-	8	1214	c.1087G>A	c.(1087-1089)Gtc>Atc	p.V363I	SLC6A3_ENST00000453492.2_Missense_Mutation_p.V363I	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	363					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GAGAAGACGACGAAGCCGGAG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	86	91			NA	NA	5		NA											NA				1414875		2203	4299	6502	SO:0001583	missense				CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319	6531	6531		Solute carriers	11049	protein-coding gene	gene with protein product	dopamine transporter	126455	solute carrier family 6 (neurotransmitter transporter, dopamine), member 3, dopamine transporter 1	DAT1	NA	1406597	Standard	NM_001044	NM_001044	NA	Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1087G>A	5.37:g.1414875C>T	ENSP00000270349:p.Val363Ile	NA	Q14996	37	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	C	35	5.443100	0.96187	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.75589	-0.95;-0.95	4.09	4.09	0.47781	.	0.000000	0.85682	D	0.000000	D	0.82379	0.5024	M	0.71206	2.165	0.58432	D	0.999999	D	0.63880	0.993	P	0.59595	0.86	D	0.85050	0.0928	10	0.72032	D	0.01	.	13.8206	0.63318	0.0:1.0:0.0:0.0	.	363	Q01959	SC6A3_HUMAN	I	363	ENSP00000270349:V363I;ENSP00000399806:V363I	ENSP00000270349:V363I	V	-	1	0	SLC6A3	1467875	1.000000	0.71417	0.981000	0.43875	0.962000	0.63368	7.116000	0.77119	1.837000	0.53436	0.555000	0.69702	GTC	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253650.3		-	ENST00000270349.9	Missense_Mutation	SNP	5 : 1414875 - 1414875 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	374	64
RASGRP3	25780	broad.mit.edu	37	2	33783327	33783327	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:33783327C>A	ENST00000403687.3	+	16	2369	c.1629C>A	c.(1627-1629)gcC>gcA	p.A543A	RASGRP3_ENST00000402538.3_Silent_p.A543A|RASGRP3_ENST00000407811.1_Silent_p.A542A|AC020594.5_ENST00000437680.1_RNA	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	543					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TGGTTCTGGCCTGCAGGAGAT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	62	61			NA	NA	2		NA											NA				33783327		1907	4118	6025	SO:0001819	synonymous_variant			AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689	25780	25780		EF-hand domain containing	14545	protein-coding gene	gene with protein product		609531			NA	10048485, 10934204	Standard	NM_015376	NM_170672	NA	Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.1629C>A	2.37:g.33783327C>A		NA	O94931	37	CCDS46256.1																																																																																			RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325462.2		+	ENST00000403687.3	Silent	SNP	2 : 33783327 - 33783327 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	119	23
KCTD1	284252	broad.mit.edu	37	18	24056620	24056620	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:24056620G>A	ENST00000408011.3	-	3	727	c.168C>T	c.(166-168)atC>atT	p.I56I	KCTD1_ENST00000417602.1_Silent_p.I664I|KCTD1_ENST00000579973.1_Silent_p.I56I|KCTD1_ENST00000580059.1_Silent_p.I56I|KCTD1_ENST00000317932.7_Silent_p.I56I	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	56	BTB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			AAAGTCTTCCGATTCTGTGAT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	73	77			NA	NA	18		NA											NA				24056620		2203	4300	6503	SO:0001819	synonymous_variant			AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504	284252	284252			18249	protein-coding gene	gene with protein product		613420	potassium channel tetramerisation domain containing 1	C18orf5	NA		Standard	XM_209091	NM_001142730	NA	Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.168C>T	18.37:g.24056620G>A		NA	A8K1F5	37	CCDS11888.1																																																																																			KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000446265.1		-	ENST00000408011.3	Silent	SNP	18 : 24056620 - 24056620 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	185	45
LTN1	26046	broad.mit.edu	37	21	30338786	30338786	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30338786T>G	ENST00000389195.2	-	10	2170	c.2165A>C	c.(2164-2166)aAg>aCg	p.K722T	LTN1_ENST00000389194.2_Missense_Mutation_p.K722T|LTN1_ENST00000361371.5_Missense_Mutation_p.K676T			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	676							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						ACCAAAATCCTTCCTTTGATC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	98	97			NA	NA	21		NA											NA				30338786		2203	4300	6503	SO:0001583	missense			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862	26046	26046		RING-type (C3HC4) zinc fingers	13082	protein-coding gene	gene with protein product	listerin	613083	chromosome 21 open reading frame 98, zinc finger protein 294, ring finger protein 160	C21orf98, C21orf10, ZNF294, RNF160	NA	20835226, 19196968	Standard	NM_015565	NM_015565	NA	Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000389195.2:c.2165A>C	21.37:g.30338786T>G	ENSP00000373847:p.Lys722Thr	NA	A6NL41|A7E2D0|B2RTS0|C9J7U3|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	37		.	.	.	.	.	.	.	.	.	.	T	10.24	1.296501	0.23650	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000389195	T;T;T	0.64803	2.19;2.2;-0.12	5.13	5.13	0.70059	.	0.376195	0.30101	N	0.010405	T	0.46541	0.1398	N	0.14661	0.345	0.31171	N	0.703152	B	0.17465	0.022	B	0.10450	0.005	T	0.50355	-0.8838	10	0.39692	T	0.17	.	15.4	0.74830	0.0:0.0:0.0:1.0	.	676	O94822	LTN1_HUMAN	T	722;676;722	ENSP00000373846:K722T;ENSP00000354977:K676T;ENSP00000373847:K722T	ENSP00000354977:K676T	K	-	2	0	LTN1	29260657	0.996000	0.38824	0.364000	0.25888	0.791000	0.44710	2.304000	0.43655	2.281000	0.76405	0.528000	0.53228	AAG	LTN1-002	PUTATIVE	non_canonical_conserved|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000171852.1		-	ENST00000389195.2	Missense_Mutation	SNP	21 : 30338786 - 30338786 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	485	83
ZNF790	388536	broad.mit.edu	37	19	37309616	37309616	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37309616T>A	ENST00000356725.4	-	5	1750	c.1630A>T	c.(1630-1632)Atc>Ttc	p.I544F	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	544					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GAACCCCAGATAAAAGATTTC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	112	112			NA	NA	19		NA											NA				37309616		2203	4300	6503	SO:0001583	missense			BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863	388536	388536		Zinc fingers, C2H2-type, -	33114	protein-coding gene	gene with protein product					NA		Standard	NM_206894	NM_206894	NA	Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.1630A>T	19.37:g.37309616T>A	ENSP00000349161:p.Ile544Phe	NA		37	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	T	3.310	-0.140997	0.06669	.	.	ENSG00000197863	ENST00000356725	T	0.60672	0.17	3.2	2.17	0.27698	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44767	0.1309	N	0.19112	0.55	0.20926	N	0.999826	P	0.50369	0.934	P	0.50314	0.637	T	0.21655	-1.0239	9	0.18276	T	0.48	.	5.7212	0.17988	0.0:0.2363:0.0:0.7637	.	544	Q6PG37	ZN790_HUMAN	F	544	ENSP00000349161:I544F	ENSP00000349161:I544F	I	-	1	0	ZNF790	42001456	0.000000	0.05858	0.270000	0.24601	0.898000	0.52572	-2.284000	0.01154	0.437000	0.26423	0.402000	0.26972	ATC	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385341.2		-	ENST00000356725.4	Missense_Mutation	SNP	19 : 37309616 - 37309616 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	709	153
GRIP1	23426	broad.mit.edu	37	12	66990684	66990684	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:66990684C>T	ENST00000398016.3	-	2	147	c.79G>A	c.(79-81)Gcc>Acc	p.A27T	GRIP1_ENST00000286445.7_Missense_Mutation_p.A27T|GRIP1_ENST00000359742.4_Missense_Mutation_p.A27T	NM_021150.3	NP_066973.2	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	27					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GTCTGGCTGGCGGATTTAGTG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	107	106			NA	NA	12		NA											NA				66990684		1895	4124	6019	SO:0001583	missense			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974	23426	23426			18708	protein-coding gene	gene with protein product		604597			NA	10197531	Standard		NM_021150	NA	Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.79G>A	12.37:g.66990684C>T	ENSP00000381098:p.Ala27Thr	NA	C9JT59|Q1RLM0	37	CCDS41807.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467165	0.43839	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000541947	T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.48	5.83	3.91	0.45181	.	0.135447	0.48767	N	0.000168	T	0.09069	0.0224	N	0.08118	0	0.30312	N	0.788396	B;B	0.13594	0.007;0.008	B;B	0.14578	0.011;0.011	T	0.17471	-1.0368	9	.	.	.	-14.9658	6.7807	0.23643	0.174:0.7379:0.0:0.088	.	27;27	F5H4N6;Q9Y3R0-3	.;.	T	27;27;27;27;53	ENSP00000381098:A27T;ENSP00000352780:A27T;ENSP00000286445:A27T;ENSP00000446047:A27T;ENSP00000438921:A53T	.	A	-	1	0	GRIP1	65276951	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.682000	0.37628	1.466000	0.48025	-0.145000	0.13849	GCC	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401975.2		-	ENST00000398016.3	Missense_Mutation	SNP	12 : 66990684 - 66990684 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	512	103
LRRIQ4	344657	broad.mit.edu	37	3	169540472	169540472	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169540472G>A	ENST00000340806.6	+	1	763	c.763G>A	c.(763-765)Gag>Aag	p.E255K		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	255										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GAGCTTCGCCGAGCTCAGGAA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	36	35			NA	NA	3		NA											NA				169540472		1994	4159	6153	SO:0001583	missense				CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306	344657	344657			34298	protein-coding gene	gene with protein product	leucine rich repeat containing 64				NA		Standard	NM_001080460	NM_001080460	NA	Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.763G>A	3.37:g.169540472G>A	ENSP00000342188:p.Glu255Lys	NA		37	CCDS46951.1	.	.	.	.	.	.	.	.	.	.	G	8.002	0.755540	0.15846	.	.	ENSG00000188306	ENST00000340806	T	0.56275	0.47	5.56	0.0324	0.14175	.	1.620940	0.03327	N	0.192807	T	0.23688	0.0573	N	0.02854	-0.475	0.09310	N	1	B	0.31655	0.334	B	0.20955	0.032	T	0.19257	-1.0311	10	0.05721	T	0.95	.	9.5188	0.39122	0.1905:0.534:0.2755:0.0	.	255	A6NIV6	LRIQ4_HUMAN	K	255	ENSP00000342188:E255K	ENSP00000342188:E255K	E	+	1	0	LRRIQ4	171023166	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.155000	0.16362	-0.357000	0.08175	0.462000	0.41574	GAG	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378698.1		+	ENST00000340806.6	Missense_Mutation	SNP	3 : 169540472 - 169540472 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	201	44
ENTPD8	377841	broad.mit.edu	37	9	140329483	140329483	+	Silent	SNP	C	C	T	rs140934866		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140329483C>T	ENST00000344119.2	-	9	1443	c.1260G>A	c.(1258-1260)ccG>ccA	p.P420P	ENTPD8_ENST00000472938.1_Silent_p.P457P|ENTPD8_ENST00000371506.2_Silent_p.P457P	NM_198585.2	NP_940987.2	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	457						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GCCACTGAGCCGGCGCATCGG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	0,4394		0,0,2197	49	48	49		1371,1260	-10.1	0	9	dbSNP_134	49	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous	ENTPD8	NM_001033113.1,NM_198585.2	,	0,1,6494	TT,TC,CC	NA	0.0116,0.0,0.0077	,	457/496,420/459	140329483	1,12989	2197	4298	6495	SO:0001819	synonymous_variant			AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833	377841	377841			24860	protein-coding gene	gene with protein product	GLSR2492				NA	12975309	Standard	NM_198585	NM_198585	NA	Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000344119.2:c.1260G>A	9.37:g.140329483C>T		NA	A2BG17|Q6UVZ0	37	CCDS7043.1																																																																																			ENTPD8-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254774.2		-	ENST00000344119.2	Silent	SNP	9 : 140329483 - 140329483 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	167	37
CLCA1	1179	broad.mit.edu	37	1	86948009	86948009	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86948009C>A	ENST00000234701.3	+	6	1030	c.679C>A	c.(679-681)Ctc>Atc	p.L227I	CLCA1_ENST00000394711.1_Missense_Mutation_p.L227I			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	227					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TGAGTTTGTTCTCCAATCCCG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	129	132			NA	NA	1		NA											NA				86948009		2203	4300	6503	SO:0001583	missense				CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490	1179	1179			2015	protein-coding gene	gene with protein product		603906	chloride channel, calcium activated, family member 1, chloride channel regulator 1		NA	9828122	Standard	NM_001285	NM_001285	NA	Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.679C>A	1.37:g.86948009C>A	ENSP00000234701:p.Leu227Ile	NA	B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	37	CCDS709.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.728078	0.48833	.	.	ENSG00000016490	ENST00000234701;ENST00000394711	T;T	0.11604	2.76;2.76	5.49	5.49	0.81192	Chloride channel calcium-activated (1);	0.129596	0.52532	D	0.000080	T	0.04318	0.0119	N	0.24115	0.695	0.09310	N	0.999993	B	0.09022	0.002	B	0.10450	0.005	T	0.21827	-1.0234	10	0.54805	T	0.06	-5.6807	18.5051	0.90894	0.0:1.0:0.0:0.0	.	227	A8K7I4	CLCA1_HUMAN	I	227	ENSP00000234701:L227I;ENSP00000378200:L227I	ENSP00000234701:L227I	L	+	1	0	CLCA1	86720597	0.483000	0.25956	0.022000	0.16811	0.002000	0.02628	4.384000	0.59607	2.746000	0.94184	0.655000	0.94253	CTC	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000028277.1		+	ENST00000234701.3	Missense_Mutation	SNP	1 : 86948009 - 86948009 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	45
NARS2	79731	broad.mit.edu	37	11	78277273	78277273	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:78277273G>A	ENST00000528850.1	-	0	673				NARS2_ENST00000281038.5_Nonsense_Mutation_p.R140*			Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	NA					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	GGATATTGTCGCAGATACTCC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	89	90			NA	NA	11		NA											NA				78277273		2200	4291	6491	SO:0001623	5_prime_UTR_variant			BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	79731	79731	6.1.1.22	Aminoacyl tRNA synthetases / Class II	26274	protein-coding gene	gene with protein product	asparagine tRNA ligase 2, mitochondrial (putative)	612803			NA	15779907	Standard	NM_024678	NM_024678	NA	Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000528850.1:c.-264C>T	11.37:g.78277273G>A		NA		37	CCDS58164.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198350	0.79015	.	.	ENSG00000137513	ENST00000281038;ENST00000529880	.	.	.	5.13	2.6	0.31112	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.3496	11.5876	0.50927	0.0:0.0:0.3858:0.6142	.	.	.	.	X	140	.	ENSP00000281038:R140X	R	-	1	2	NARS2	77954921	1.000000	0.71417	0.998000	0.56505	0.209000	0.24338	1.833000	0.39161	0.898000	0.36418	-0.264000	0.10439	CGA	NARS2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391139.1		-	ENST00000528850.1	5'UTR	SNP	11 : 78277273 - 78277273 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	332	80
COL9A1	1297	broad.mit.edu	37	6	70964196	70964196	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70964196C>T	ENST00000357250.6	-	25	1860	c.1702G>A	c.(1702-1704)Gga>Aga	p.G568R	COL9A1_ENST00000370499.4_Missense_Mutation_p.G325R|COL9A1_ENST00000320755.7_Missense_Mutation_p.G325R|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	568	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCCTGCAATCCTGCATCACCA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	68	70			NA	NA	6		NA											NA				70964196		2203	4300	6503	SO:0001583	missense				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280	1297	1297		Proteoglycans / Extracellular Matrix : Collagen proteoglycans, Collagens	2217	protein-coding gene	gene with protein product		120210			NA	1429648	Standard		NM_001851	NA	Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.1702G>A	6.37:g.70964196C>T	ENSP00000349790:p.Gly568Arg	NA	Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	37	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249956	0.59212	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.99637	-6.29;-6.29;-6.29	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.99876	0.9941	H	0.99454	4.575	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96439	0.9325	10	0.87932	D	0	.	18.1361	0.89619	0.0:1.0:0.0:0.0	.	568;325;141	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	R	568;325;325	ENSP00000349790:G568R;ENSP00000315252:G325R;ENSP00000359530:G325R	ENSP00000315252:G325R	G	-	1	0	COL9A1	71020917	0.999000	0.42202	0.262000	0.24481	0.990000	0.78478	6.026000	0.70873	2.713000	0.92767	0.591000	0.81541	GGA	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041131.2		-	ENST00000357250.6	Missense_Mutation	SNP	6 : 70964196 - 70964196 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	310	64
KRT2	3849	broad.mit.edu	37	12	53042884	53042884	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53042884G>A	ENST00000309680.3	-	4	885	c.864C>T	c.(862-864)gaC>gaT	p.D288D		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	288	Coil 1B.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CATTGTCCACGTCCTGCAAGA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	97	107			NA	NA	12		NA											NA				53042884		2203	4300	6503	SO:0001819	synonymous_variant				CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867	3849	3849		-, Intermediate filaments type II, keratins (basic)	6439	protein-coding gene	gene with protein product	epidermal ichthyosis bullosa of Siemens	600194	keratin 2A (epidermal ichthyosis bullosa of Siemens)	KRT2A	NA	7524919, 16831889	Standard	NM_000423	NM_000423	NA	Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.864C>T	12.37:g.53042884G>A		NA	Q4VAQ2	37	CCDS8835.1																																																																																			KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405704.1		-	ENST00000309680.3	Silent	SNP	12 : 53042884 - 53042884 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	335	65
SYCP2	10388	broad.mit.edu	37	20	58476773	58476773	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58476773C>T	ENST00000357552.3	-	16	1351	c.1126G>A	c.(1126-1128)Gca>Aca	p.A376T	SYCP2_ENST00000371001.2_Missense_Mutation_p.A376T			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	376					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TCTAGTGATGCGTCAAAATAC	0.274		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	70	71			NA	NA	20		NA											NA				58476773		2199	4288	6487	SO:0001583	missense			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074	10388	10388			11490	protein-coding gene	gene with protein product		604105			NA	10341103, 9592139	Standard	NM_014258	NM_014258	NA	Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.1126G>A	20.37:g.58476773C>T	ENSP00000350162:p.Ala376Thr	NA	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	37	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966788	0.34659	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.18810	2.45;2.45;2.19	5.59	1.07	0.20283	.	1.172000	0.06052	N	0.656683	T	0.14743	0.0356	L	0.47716	1.5	0.19300	N	0.999979	B;B	0.27498	0.054;0.18	B;B	0.20384	0.013;0.029	T	0.31641	-0.9936	10	0.10636	T	0.68	-0.9909	2.8299	0.05496	0.1196:0.5126:0.129:0.2388	.	376;376	A2A341;Q9BX26	.;SYCP2_HUMAN	T	376	ENSP00000360040:A376T;ENSP00000350162:A376T;ENSP00000402456:A376T	ENSP00000350162:A376T	A	-	1	0	SYCP2	57910168	0.660000	0.27420	0.619000	0.29118	0.977000	0.68977	-0.016000	0.12613	0.309000	0.22966	0.650000	0.86243	GCA	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079930.3		-	ENST00000357552.3	Missense_Mutation	SNP	20 : 58476773 - 58476773 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	180	28
VPS13A	23230	broad.mit.edu	37	9	79934591	79934591	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79934591T>C	ENST00000360280.3	+	42	5675		c.e42+2		VPS13A_ENST00000376636.3_Splice_Site|VPS13A_ENST00000376634.4_Splice_Site|VPS13A_ENST00000357409.5_Splice_Site	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	NA					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGTATCAAGGtatatctatat	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	74	75			NA	NA	9		NA											NA				79934591		2202	4299	6501	SO:0001630	splice_region_variant			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969	23230	23230			1908	protein-coding gene	gene with protein product	chorein	605978	chorea acanthocytosis, vacuolar protein sorting 13A (yeast)	CHAC	NA	9382101, 11381253	Standard	NM_015186	NM_001018038	NA	Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.5415+2T>C	9.37:g.79934591T>C		NA	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	37	CCDS6655.1																																																																																			VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052753.2	Intron	+	ENST00000360280.3	Splice_Site	SNP	9 : 79934591 - 79934591 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	117	22
ELAVL2	1993	broad.mit.edu	37	9	23705055	23705055	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:23705055G>A	ENST00000397312.2	-	4	622	c.348C>T	c.(346-348)cgC>cgT	p.R116R	ELAVL2_ENST00000380110.4_Silent_p.R145R|ELAVL2_ENST00000223951.6_Silent_p.R116R|ELAVL2_ENST00000544538.1_Silent_p.R116R|ELAVL2_ENST00000380117.1_Silent_p.R116R	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	116	RRM 1.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CTGAACTTGGGCGAGCATAGG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	90	90			NA	NA	9		NA											NA				23705055		2203	4300	6503	SO:0001819	synonymous_variant			BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105	1993	1993		RNA binding motif (RRM) containing	3313	protein-coding gene	gene with protein product	Hu antigen B	601673	ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2, ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)		NA	8812435	Standard	NM_004432	NM_004432	NA	Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.348C>T	9.37:g.23705055G>A		NA	D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	37	CCDS6515.1																																																																																			ELAVL2-201	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051943.2		-	ENST00000397312.2	Silent	SNP	9 : 23705055 - 23705055 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	487	95
ANPEP	290	broad.mit.edu	37	15	90340856	90340856	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90340856T>A	ENST00000300060.6	-	15	2420	c.2107A>T	c.(2107-2109)Agc>Tgc	p.S703C	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	703	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	TTGAAGTAGCTCAGGCTGCTC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(30;827 977 2459 19669 26125)							NA				0													145	131	136			NA	NA	15		NA											NA				90340856		2200	4299	6499	SO:0001583	missense			M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	290	290	3.4.11.2	CD molecules	500	protein-coding gene	gene with protein product	aminopeptidase N, aminopeptidase M, microsomal aminopeptidase	151530		CD13, PEPN	NA	2428842, 1977688	Standard		NM_001150	NA	Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.2107A>T	15.37:g.90340856T>A	ENSP00000300060:p.Ser703Cys	NA	Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	37	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	T	19.43	3.825501	0.71143	.	.	ENSG00000166825	ENST00000300060	T	0.06528	3.29	5.46	2.99	0.34606	.	0.496209	0.25631	N	0.029345	T	0.17704	0.0425	M	0.85197	2.74	0.09310	N	1	D	0.52996	0.957	P	0.54856	0.762	T	0.03945	-1.0990	10	0.56958	D	0.05	.	7.11	0.25384	0.0:0.0811:0.2142:0.7047	.	703	P15144	AMPN_HUMAN	C	703	ENSP00000300060:S703C	ENSP00000300060:S703C	S	-	1	0	ANPEP	88141860	0.000000	0.05858	0.979000	0.43373	0.995000	0.86356	-0.112000	0.10791	1.012000	0.39366	0.533000	0.62120	AGC	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313425.1		-	ENST00000300060.6	Missense_Mutation	SNP	15 : 90340856 - 90340856 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	838	153
HYAL1	3373	broad.mit.edu	37	3	50337931	50337931	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50337931G>A	ENST00000266031.4	-	3	1906	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	HYAL1_ENST00000395143.2_Missense_Mutation_p.R401W|HYAL1_ENST00000395144.2_Missense_Mutation_p.R431W|HYAL1_ENST00000457214.2_Missense_Mutation_p.R249W|HYAL1_ENST00000320295.8_Missense_Mutation_p.R431W|HYAL1_ENST00000447605.2_Missense_Mutation_p.R172W			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	431						extracellular space|lysosome	hyalurononglucosaminidase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	ATGCTCTTCCGCTCACACCAC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	95	95			NA	NA	3		NA											NA				50337931		2203	4300	6503	SO:0001583	missense			U90094	CCDS2816.1, CCDS2817.1, CCDS46832.1, CCDS46833.1	3p21.31	2014-07-17			ENSG00000114378	ENSG00000114378	3373	3373	3.2.1.35		5320	protein-coding gene	gene with protein product		607071			NA	9223416, 9409739	Standard		NM_153281	NA	Approved	LUCA1, HYAL-1, FUS2, NAT6	uc003czp.4	Q12794	OTTHUMG00000156941	ENST00000266031.4:c.1291C>T	3.37:g.50337931G>A	ENSP00000266031:p.Arg431Trp	NA	Q6FH23|Q6PIZ6|Q7KYU2|Q7LE34|Q8NFK5|Q8NFK6|Q8NFK7|Q8NFK8|Q8NFK9|Q93013|Q9UKD5|Q9UNI8	37	CCDS2816.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551292	0.65311	.	.	ENSG00000114378	ENST00000395144;ENST00000266031;ENST00000320295;ENST00000395143;ENST00000457214;ENST00000447605	T;T;T;T;T;T	0.31769	2.22;2.22;2.22;1.89;1.48;1.48	5.26	0.865	0.19074	.	0.616045	0.12080	U	0.501421	T	0.20536	0.0494	N	0.14661	0.345	0.09310	N	1	D;D	0.58970	0.979;0.984	B;B	0.43123	0.409;0.061	T	0.17077	-1.0381	10	0.87932	D	0	-0.7613	12.6533	0.56774	0.0:0.0:0.422:0.578	.	401;431	Q12794-2;Q12794	.;HYAL1_HUMAN	W	431;431;431;401;249;172	ENSP00000378576:R431W;ENSP00000266031:R431W;ENSP00000346068:R431W;ENSP00000378575:R401W;ENSP00000393358:R249W;ENSP00000390149:R172W	ENSP00000266031:R431W	R	-	1	2	HYAL1	50312935	0.135000	0.22499	0.153000	0.22517	0.213000	0.24496	0.949000	0.29109	0.142000	0.18901	0.313000	0.20887	CGG	HYAL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346703.1		-	ENST00000266031.4	Missense_Mutation	SNP	3 : 50337931 - 50337931 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	448	15
KIAA1462	57608	broad.mit.edu	37	10	30315768	30315768	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30315768G>A	ENST00000375377.1	-	3	3410	c.3309C>T	c.(3307-3309)atC>atT	p.I1103I		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1103										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CCGCTCTCCGGATGCCCGGCA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	60	60			NA	NA	10		NA											NA				30315768		1958	4168	6126	SO:0001819	synonymous_variant			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757	57608	57608			29283	protein-coding gene	gene with protein product	junctional protein associated with coronary artery disease	614398			NA	10819331, 21884682	Standard	NM_020848	NM_020848	NA	Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3309C>T	10.37:g.30315768G>A		NA	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	37	CCDS41500.1																																																																																			KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047409.1		-	ENST00000375377.1	Silent	SNP	10 : 30315768 - 30315768 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	700	165
CEACAM4	1089	broad.mit.edu	37	19	42132106	42132106	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42132106C>T	ENST00000221954.2	-	2	403	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	CEACAM4_ENST00000600925.1_Missense_Mutation_p.R98Q	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	98	Ig-like V-type.					integral to plasma membrane|membrane fraction				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						TACTGTCTCTCGACCACTGTA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													182	168	173			NA	NA	19		NA											NA				42132106		2203	4300	6503	SO:0001583	missense			D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352	1089	1089		Immunoglobulin superfamily / V-set domain containing	1816	protein-coding gene	gene with protein product				CGM7	NA	2050678	Standard	NM_001817	XM_005258434	NA	Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.293G>A	19.37:g.42132106C>T	ENSP00000221954:p.Arg98Gln	NA	Q03715|Q7LDZ7	37	CCDS33033.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647691	0.47258	.	.	ENSG00000105352	ENST00000221954	T	0.72282	-0.64	1.76	1.76	0.24704	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84506	0.5487	M	0.90870	3.155	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.968	T	0.70339	-0.4899	9	0.72032	D	0.01	.	6.9535	0.24558	0.0:1.0:0.0:0.0	.	98;98	E7EMX3;O75871	.;CEAM4_HUMAN	Q	98	ENSP00000221954:R98Q	ENSP00000221954:R98Q	R	-	2	0	CEACAM4	46823946	0.000000	0.05858	0.005000	0.12908	0.041000	0.13682	0.162000	0.16501	1.281000	0.44480	0.205000	0.17691	CGA	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321148.1		-	ENST00000221954.2	Missense_Mutation	SNP	19 : 42132106 - 42132106 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1069	190
PLXNA1	5361	broad.mit.edu	37	3	126736699	126736699	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126736699C>T	ENST00000393409.2	+	18	3624	c.3624C>T	c.(3622-3624)tgC>tgT	p.C1208C	PLXNA1_ENST00000251772.4_Silent_p.C1185C	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1208	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AACTGCTGTGCGAGGCGCCCA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	64	66			NA	NA	3		NA											NA				126736699		2203	4299	6502	SO:0001819	synonymous_variant			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554	5361	5361		Plexins	9099	protein-coding gene	gene with protein product		601055		PLXN1	NA	8570614	Standard	NM_032242	NM_032242	NA	Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3624C>T	3.37:g.126736699C>T		NA		37	CCDS33847.2																																																																																			PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356451.1		+	ENST00000393409.2	Silent	SNP	3 : 126736699 - 126736699 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	414	66
PDE4DIP	9659	broad.mit.edu	37	1	144946641	144946641	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144946641G>A	ENST00000530740.1	-	8	1069	c.1031C>T	c.(1030-1032)aCt>aTt	p.T344I	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.T344I|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.T207I|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.T273I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.T207I|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.T207I|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.T207I			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	207					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTCCATGCTAGTTGGCTCCTC	0.443		NA	T	PDGFRB	MPD									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													134	117	122			NA	NA	1		NA											NA				144946641		2203	4300	6503	SO:0001583	missense			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104	9659	9659			15580	protein-coding gene	gene with protein product	myomegalin	608117	cardiomyopathy associated 2	CMYA2	NA	9455484, 11134006	Standard	NM_022359	NM_022359	NA	Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000530740.1:c.1031C>T	1.37:g.144946641G>A	ENSP00000435654:p.Thr344Ile	NA	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	37		.	.	.	.	.	.	.	.	.	.	G	2.988	-0.208727	0.06140	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000530078	T;T;T;T;T;T;T	0.03717	4.75;4.84;4.84;4.85;4.84;3.83;3.84	5.16	-2.16	0.07080	.	.	.	.	.	T	0.00637	0.0021	N	0.14661	0.345	0.09310	N	1	B;B;B	0.28258	0.009;0.205;0.032	B;B;B	0.30401	0.007;0.115;0.013	T	0.47636	-0.9102	9	0.33940	T	0.23	.	0.9982	0.01472	0.171:0.2796:0.2715:0.2778	.	207;273;207	Q5VU43-7;Q5VU43-3;Q5VU43	.;.;MYOME_HUMAN	I	273;207;207;344;344;207;207;273	ENSP00000327209:T273I;ENSP00000358360:T207I;ENSP00000358363:T207I;ENSP00000435654:T344I;ENSP00000358366:T344I;ENSP00000358357:T207I;ENSP00000358355:T207I	ENSP00000327209:T273I	T	-	2	0	PDE4DIP	143657998	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.388000	0.07352	-0.162000	0.10964	-0.857000	0.03018	ACT	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000384663.2		-	ENST00000530740.1	Missense_Mutation	SNP	1 : 144946641 - 144946641 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	357	39
HAS3	3038	broad.mit.edu	37	16	69143880	69143880	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69143880C>T	ENST00000306560.1	+	2	738	c.582C>T	c.(580-582)cgC>cgT	p.R194R	HAS3_ENST00000219322.3_Silent_p.R194R|HAS3_ENST00000569188.1_Silent_p.R194R	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	194					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GAGGCAAGCGCGAGGTCATGT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,	0,4396		0,0,2198	77	61	67		582,582,582	-3.4	1	16		67	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	HAS3	NM_001199280.1,NM_005329.2,NM_138612.2	,,	0,2,6496	TT,TC,CC	NA	0.0233,0.0,0.0154	,,	194/554,194/554,194/282	69143880	2,12994	2198	4300	6498	SO:0001819	synonymous_variant			BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	3038	3038	2.4.1.212	Glycosyltransferase family 2 domain containing	4820	protein-coding gene	gene with protein product		602428			NA	9169154, 9083017	Standard	NM_138612	NM_005329	NA	Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.582C>T	16.37:g.69143880C>T		NA	A8K5T5|Q9NYP0	37	CCDS10871.1																																																																																			HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268898.2		+	ENST00000306560.1	Silent	SNP	16 : 69143880 - 69143880 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	224	50
SPTBN2	6712	broad.mit.edu	37	11	66461759	66461759	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66461759C>T	ENST00000533211.1	-	22	4685	c.4354G>A	c.(4354-4356)Gag>Aag	p.E1452K	SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1452K|SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1452K			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1452					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCCTGGTCCTCCTGGGCCAGT	0.642		NA									OREG0021113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	55	59			NA	NA	11		NA											NA				66461759		2200	4295	6495	SO:0001583	missense			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898	6712	6712		Pleckstrin homology (PH) domain containing	11276	protein-coding gene	gene with protein product		604985	spinocerebellar ataxia 5	SCA5	NA	9826670, 16429157	Standard	NM_006946	NM_006946	NA	Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.4354G>A	11.37:g.66461759C>T	ENSP00000432568:p.Glu1452Lys	1092	O14872|O14873	37	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	36	5.659003	0.96734	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.52754	0.65;0.65;0.65	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.70263	0.3204	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69778	-0.5053	10	0.23302	T	0.38	.	16.4261	0.83815	0.0:1.0:0.0:0.0	.	1452	O15020	SPTN2_HUMAN	K	1452	ENSP00000432568:E1452K;ENSP00000311489:E1452K;ENSP00000433593:E1452K	ENSP00000311489:E1452K	E	-	1	0	SPTBN2	66218335	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.892000	0.69790	2.397000	0.81536	0.563000	0.77884	GAG	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393892.2		-	ENST00000533211.1	Missense_Mutation	SNP	11 : 66461759 - 66461759 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	13
KCTD3	51133	broad.mit.edu	37	1	215793638	215793638	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215793638G>A	ENST00000259154.4	+	18	2420	c.2126G>A	c.(2125-2127)aGa>aAa	p.R709K	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	709						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		ATATCTGAGAGAAAGTCTCCT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	75	73			NA	NA	1		NA											NA				215793638		2203	4297	6500	SO:0001583	missense			AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636	51133	51133			21305	protein-coding gene	gene with protein product		613272	potassium channel tetramerisation domain containing 3		NA	10508479	Standard	NM_016121	NM_016121	NA	Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.2126G>A	1.37:g.215793638G>A	ENSP00000259154:p.Arg709Lys	NA	A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	37	CCDS1515.1	.	.	.	.	.	.	.	.	.	.	G	9.805	1.181628	0.21787	.	.	ENSG00000136636	ENST00000259154	T	0.36340	1.26	5.81	4.71	0.59529	.	0.255861	0.42548	D	0.000685	T	0.19725	0.0474	N	0.16307	0.4	0.30987	N	0.721812	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.11179	-1.0598	10	0.10902	T	0.67	-24.209	10.4541	0.44539	0.1984:0.0:0.8016:0.0	.	459;461;707;709	B7ZAF7;B4DJX2;Q9Y597-2;Q9Y597	.;.;.;KCTD3_HUMAN	K	709	ENSP00000259154:R709K	ENSP00000259154:R709K	R	+	2	0	KCTD3	213860261	0.962000	0.33011	0.952000	0.39060	0.951000	0.60555	1.038000	0.30254	2.750000	0.94351	0.655000	0.94253	AGA	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089871.2		+	ENST00000259154.4	Missense_Mutation	SNP	1 : 215793638 - 215793638 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	414	131
GPRASP1	9737	broad.mit.edu	37	X	101909574	101909574	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101909574C>T	ENST00000361600.5	+	5	1534	c.733C>T	c.(733-735)Ctc>Ttc	p.L245F	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Missense_Mutation_p.L245F|GPRASP1_ENST00000444152.1_Missense_Mutation_p.L245F|GPRASP1_ENST00000537097.1_Missense_Mutation_p.L245F	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	245						cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TAACCAGGAGCTCTATATTGC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	151	150			NA	NA	X		NA											NA				101909574		2203	4300	6503	SO:0001583	missense			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932	9737	9737		Armadillo repeat containing	24834	protein-coding gene	gene with protein product		300417			NA	9455477, 15086532, 16221301	Standard	NM_014710	NM_014710	NA	Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.733C>T	X.37:g.101909574C>T	ENSP00000355146:p.Leu245Phe	NA	O43168|Q96LA1	37	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	C	8.272	0.813492	0.16537	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.08807	3.05;3.05;3.05;3.05	1.95	-1.3	0.09259	.	.	.	.	.	T	0.02083	0.0065	N	0.02011	-0.69	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.44421	-0.9329	9	0.10377	T	0.69	-0.3033	0.198	0.00141	0.21:0.2615:0.2073:0.3212	.	245	Q5JY77	GASP1_HUMAN	F	245	ENSP00000393691:L245F;ENSP00000409420:L245F;ENSP00000355146:L245F;ENSP00000445683:L245F	ENSP00000355146:L245F	L	+	1	0	GPRASP1	101796230	0.000000	0.05858	0.000000	0.03702	0.822000	0.46500	-0.849000	0.04322	-0.523000	0.06409	0.279000	0.19357	CTC	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057634.2		+	ENST00000361600.5	Missense_Mutation	SNP	X : 101909574 - 101909574 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	818	196
CCDC163P	126661	broad.mit.edu	37	1	45965085	45965085	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45965085C>T	ENST00000432082.1	-	2	473	c.109G>A	c.(109-111)Gag>Aag	p.E37K	CCDC163P_ENST00000490551.3_Missense_Mutation_p.E37K|CCDC163P_ENST00000488405.2_Missense_Mutation_p.E37K					coiled-coil domain containing 163, pseudogene	NA										cervix(1)|endometrium(1)	2						CCAATGAGCTCTGTGGAGACC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	79	79			NA	NA	1		NA											NA				45965085		1945	4155	6100	SO:0001583	missense			BC047421		1p34.1	2010-06-14	2009-12-17	2009-12-17	ENSG00000236624	ENSG00000236624	126661	126661			27003	pseudogene	pseudogene			chromosome 1 open reading frame 231	C1orf231	NA	18672041	Standard	NM_001102601	NR_033296	NA	Approved	LOC126661	uc001cnw.3		OTTHUMG00000007741	ENST00000432082.1:c.109G>A	1.37:g.45965085C>T	ENSP00000435596:p.Glu37Lys	NA		37		.	.	.	.	.	.	.	.	.	.	c	17.34	3.364267	0.61513	.	.	ENSG00000236624	ENST00000490551;ENST00000432082;ENST00000488405	.	.	.	0.56	-1.12	0.09808	.	.	.	.	.	T	0.20901	0.0503	.	.	.	0.09310	N	1	B;B	0.31968	0.0;0.349	B;B	0.23018	0.0;0.043	T	0.12889	-1.0530	6	0.62326	D	0.03	.	.	.	.	.	37;37	E9PLD6;F2Z3K3	.;.	K	37	.	ENSP00000431736:E37K	E	-	1	0	CCDC163P	45737672	0.000000	0.05858	0.028000	0.17463	0.806000	0.45545	-0.652000	0.05366	-0.353000	0.08224	0.064000	0.15345	GAG	CCDC163P-006	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000349850.4		-	ENST00000432082.1	Missense_Mutation	SNP	1 : 45965085 - 45965085 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	98	8
DTX3L	151636	broad.mit.edu	37	3	122288313	122288313	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122288313C>T	ENST00000383661.3	+	3	399				DTX3L_ENST00000296161.4_Silent_p.G459G			Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	NA					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		AGTCTTTGGGCAAGGAGAGAA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	135	138			NA	NA	3		NA											NA				122288313		2203	4300	6503	SO:0001627	intron_variant				CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840	151636	151636		RING-type (C3HC4) zinc fingers	30323	protein-coding gene	gene with protein product	rhysin 2	613143	deltex 3-like (Drosophila)		NA	12670957, 22411408	Standard	NM_138287	NM_138287	NA	Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000383661.3:c.400-989C>T	3.37:g.122288313C>T		NA	B3KWH6|Q53ZZ3|Q5MJP7	37	CCDS3015.1																																																																																			DTX3L-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355967.1		+	ENST00000383661.3	Intron	SNP	3 : 122288313 - 122288313 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	587	109
RIMS1	22999	broad.mit.edu	37	6	73108697	73108697	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:73108697T>C	ENST00000414192.2	+	5	532	c.342T>C	c.(340-342)tgT>tgC	p.C114C	RIMS1_ENST00000520567.1_Silent_p.C1237C|RIMS1_ENST00000264839.7_Silent_p.C1436C|RIMS1_ENST00000491071.2_Silent_p.C1376C|RIMS1_ENST00000523963.1_Silent_p.C712C|RIMS1_ENST00000521978.1_Silent_p.C1587C|RIMS1_ENST00000517827.1_Silent_p.C721C|RIMS1_ENST00000348717.5_Silent_p.C1370C|RIMS1_ENST00000425662.2_Silent_p.C655C|RIMS1_ENST00000401910.3_Silent_p.C907C|RIMS1_ENST00000538414.1_Silent_p.C393C|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000518273.1_Silent_p.C1266C|RIMS1_ENST00000517960.1_Silent_p.C1370C|RIMS1_ENST00000522291.1_Silent_p.C1186C	NM_001168411.1	NP_001161883.1	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1587	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ATGGGGCCTGTATAGCCAAGA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	93	94			NA	NA	6		NA											NA				73108697		1821	4088	5909	SO:0001819	synonymous_variant			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841	NA	22999			17282	protein-coding gene	gene with protein product	Rab3-interacting molecule	606629	RAB3 interacting protein 2	RAB3IP2, CORD7	NA	9205841, 11438518	Standard		NM_001168407	NA	Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000414192.2:c.342T>C	6.37:g.73108697T>C		NA	A7MBN6|O15048|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	37	CCDS55033.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.660|6.660	0.490392|0.490392	0.12702|0.12702	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000522211|ENST00000517433	.|.	.|.	.|.	5.37|5.37	2.75|2.75	0.32379|0.32379	.|.	.|.	.|.	.|.	.|.	T|T	0.43166|0.43166	0.1235|0.1235	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.35649|0.35649	-0.9780|-0.9780	4|4	.|.	.|.	.|.	-13.4425|-13.4425	8.1248|8.1248	0.30992|0.30992	0.0:0.2829:0.0:0.7171|0.0:0.2829:0.0:0.7171	.|.	.|.	.|.	.|.	A|H	505|933	.|.	.|.	V|Y	+|+	2|1	0|0	RIMS1|RIMS1	73165418|73165418	0.428000|0.428000	0.25522|0.25522	1.000000|1.000000	0.80357|0.80357	0.656000|0.656000	0.38851|0.38851	-0.266000|-0.266000	0.08631|0.08631	0.995000|0.995000	0.38917|0.38917	0.482000|0.482000	0.46254|0.46254	GTA|TAT	RIMS1-009	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041179.2		+	ENST00000414192.2	Silent	SNP	6 : 73108697 - 73108697 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	218	43
C20orf96	140680	broad.mit.edu	37	20	264666	264666	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:264666C>A	ENST00000360321.2	-	4	382	c.244G>T	c.(244-246)Gaa>Taa	p.E82*	C20orf96_ENST00000400269.3_Nonsense_Mutation_p.E24*|C20orf96_ENST00000382369.5_Nonsense_Mutation_p.E47*	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	82										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CTATGTAGTTCTCTTGGATTC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													207	170	182			NA	NA	20		NA											NA				264666		2203	4300	6503	SO:0001587	stop_gained			AL034548	CCDS12994.1, CCDS74685.1	20p13	2012-10-30			ENSG00000196476	ENSG00000196476	140680	140680			16227	protein-coding gene	gene with protein product					NA		Standard	NM_153269	NM_153269	NA	Approved	dJ1103G7.2	uc002wde.2	Q9NUD7	OTTHUMG00000031626	ENST00000360321.2:c.244G>T	20.37:g.264666C>A	ENSP00000353470:p.Glu82*	NA	A3KPE0|B2RPH9|Q8N840|Q8NAX5	37	CCDS12994.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217647	0.58560	.	.	ENSG00000196476	ENST00000382369;ENST00000360321;ENST00000400269	.	.	.	3.54	3.54	0.40534	.	0.677352	0.12134	N	0.496481	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-1.2996	10.8705	0.46881	0.0:1.0:0.0:0.0	.	.	.	.	X	47;82;24	.	ENSP00000353470:E82X	E	-	1	0	C20orf96	212666	0.001000	0.12720	0.010000	0.14722	0.098000	0.18820	0.856000	0.27818	2.282000	0.76494	0.561000	0.74099	GAA	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077439.2		-	ENST00000360321.2	Nonsense_Mutation	SNP	20 : 264666 - 264666 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	387	16
GLYATL1	92292	broad.mit.edu	37	11	58723238	58723238	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58723238T>A	ENST00000300079.5	+	7	790	c.740T>A	c.(739-741)gTc>gAc	p.V247D	GLYATL1_ENST00000317391.4_Missense_Mutation_p.V216D|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	216						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	CCAGAGGGAGTCCCGGTCTCA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	50	50			NA	NA	11		NA											NA				58723238		2201	4295	6496	SO:0001583	missense			AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840	92292	92292			30519	protein-coding gene	gene with protein product		614761			NA	12477932	Standard	NM_080661	NM_080661	NA	Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000300079.5:c.740T>A	11.37:g.58723238T>A	ENSP00000300079:p.Val247Asp	NA	A6NDT0|Q7Z510|Q8NAW8	37	CCDS31556.1	.	.	.	.	.	.	.	.	.	.	.	1.884	-0.457231	0.04540	.	.	ENSG00000166840	ENST00000444580;ENST00000317391;ENST00000300079	T;T	0.16597	2.33;2.33	2.62	-5.25	0.02781	Acyl-CoA N-acyltransferase (2);Glycine N-acyltransferase, C-terminal (1);	1.743380	0.03968	U	0.291199	T	0.05823	0.0152	N	0.03608	-0.345	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.10450	0.005;0.003	T	0.30909	-0.9962	10	0.14656	T	0.56	.	3.8067	0.08780	0.5822:0.2383:0.0:0.1796	.	247;216	Q969I3-2;Q969I3	.;GLYL1_HUMAN	D	193;216;247	ENSP00000322223:V216D;ENSP00000300079:V247D	ENSP00000300079:V247D	V	+	2	0	GLYATL1	58479814	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-4.651000	0.00203	-0.886000	0.03966	0.338000	0.21704	GTC	GLYATL1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393789.1		+	ENST00000300079.5	Missense_Mutation	SNP	11 : 58723238 - 58723238 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	255	41
FGR	2268	broad.mit.edu	37	1	27939553	27939553	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27939553A>G	ENST00000374005.3	-	13	1750	c.1462T>C	c.(1462-1464)Tac>Cac	p.Y488H	FGR_ENST00000545953.1_Missense_Mutation_p.Y422H|FGR_ENST00000399173.1_Missense_Mutation_p.Y488H|FGR_ENST00000374004.1_Missense_Mutation_p.Y488H	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	488	Protein kinase.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ATGGCCTCGTACAGGGATGCT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	71	76			NA	NA	1		NA											NA				27939553		2203	4300	6503	SO:0001583	missense			BC064382	CCDS305.1	1p36.2-p36.1	2014-06-25	2014-06-25		ENSG00000000938	ENSG00000000938	2268	2268		SH2 domain containing	3697	protein-coding gene	gene with protein product		164940	Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog, v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog, feline Gardner-Rasheed sarcoma viral oncogene homolog	SRC2	NA	3922831	Standard	NM_005248	NM_001042729	NA	Approved	c-fgr, p55c-fgr	uc001bom.3	P09769	OTTHUMG00000003516	ENST00000374005.3:c.1462T>C	1.37:g.27939553A>G	ENSP00000363117:p.Tyr488His	NA	D3DPL7|Q9UIQ3	37	CCDS305.1	.	.	.	.	.	.	.	.	.	.	a	0.837	-0.743203	0.03088	.	.	ENSG00000000938	ENST00000374005;ENST00000545953;ENST00000399173;ENST00000374004;ENST00000374003	D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81	4.89	3.75	0.43078	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.126247	0.34531	N	0.003890	D	0.84897	0.5574	L	0.55017	1.72	0.29442	N	0.85912	P	0.48294	0.908	P	0.54238	0.746	T	0.77115	-0.2707	10	0.22706	T	0.39	.	7.4482	0.27223	0.8264:0.0:0.1736:0.0	.	488	P09769	FGR_HUMAN	H	488;422;488;488;488	ENSP00000363117:Y488H;ENSP00000445302:Y422H;ENSP00000382126:Y488H;ENSP00000363116:Y488H;ENSP00000363115:Y488H	ENSP00000363115:Y488H	Y	-	1	0	FGR	27812140	1.000000	0.71417	0.324000	0.25361	0.033000	0.12548	6.332000	0.72934	0.807000	0.34208	0.478000	0.44815	TAC	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000009772.1		-	ENST00000374005.3	Missense_Mutation	SNP	1 : 27939553 - 27939553 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	316	25
MAGEB6	158809	broad.mit.edu	37	X	26212833	26212833	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:26212833G>A	ENST00000379034.1	+	2	1019	c.870G>A	c.(868-870)tcG>tcA	p.S290S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	290	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TCCTGATGTCGCTCCTGGTTG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	150	153			NA	NA	X		NA											NA				26212833		2202	4300	6502	SO:0001819	synonymous_variant			AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746	158809	158809			23796	protein-coding gene	gene with protein product	cancer/testis antigen family 3, member 4	300467			NA	10861452	Standard	NM_173523	NM_173523	NA	Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.870G>A	X.37:g.26212833G>A		NA	Q6GS19|Q9H219	37	CCDS14217.1																																																																																			MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056123.1		+	ENST00000379034.1	Silent	SNP	X : 26212833 - 26212833 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	678	199
TIMM50	92609	broad.mit.edu	37	19	39971218	39971218	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39971218G>T	ENST00000314349.4	+	1	167	c.34G>T	c.(34-36)Gat>Tat	p.D12Y		NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	0					mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAATAAGTGTGATCCCTTCCT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	77	79			NA	NA	19		NA											NA				39971218		2203	4300	6503	SO:0001583	missense			BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197	92609	92609		Serine/threonine phosphatases / CTD aspartate-based phosphatases	23656	protein-coding gene	gene with protein product		607381	translocase of inner mitochondrial membrane 50 homolog (yeast)		NA	12437925	Standard	NM_001001563	NM_001001563	NA	Approved	TIM50L	uc002olu.1	Q3ZCQ8		ENST00000314349.4:c.34G>T	19.37:g.39971218G>T	ENSP00000318115:p.Asp12Tyr	NA	Q6QA00|Q96FJ5|Q96GY2|Q9H370	37	CCDS33023.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.411895	0.42817	.	.	ENSG00000105197	ENST00000314349	.	.	.	3.1	-2.17	0.07059	.	.	.	.	.	T	0.16171	0.0389	N	0.08118	0	0.09310	N	0.999996	P	0.39782	0.688	P	0.44990	0.466	T	0.24440	-1.0160	7	.	.	.	2.2689	5.3158	0.15854	0.2557:0.2188:0.5255:0.0	.	12	Q3ZCQ8-2	.	Y	12	.	.	D	+	1	0	TIMM50	44663058	0.009000	0.17119	0.000000	0.03702	0.011000	0.07611	0.856000	0.27818	-0.267000	0.09325	0.462000	0.41574	GAT	TIMM50-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464935.1		+	ENST00000314349.4	Missense_Mutation	SNP	19 : 39971218 - 39971218 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	538	85
ESRP2	80004	broad.mit.edu	37	16	68264135	68264135	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68264135A>C	ENST00000473183.2	-	15	2686	c.2148T>G	c.(2146-2148)tgT>tgG	p.C716W	ESRP2_ENST00000565858.1_Missense_Mutation_p.C726W			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	726					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						TCTCCTACAAACACACCCATT	0.542		NA									OREG0023896	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	97	97			NA	NA	16		NA											NA				68264135		2198	4300	6498	SO:0001583	missense			AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067	80004	80004		RNA binding motif (RRM) containing	26152	protein-coding gene	gene with protein product		612960	RNA binding motif protein 35B	RBM35B	NA	12477932	Standard	NM_024939	NM_024939	NA	Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000473183.2:c.2148T>G	16.37:g.68264135A>C	ENSP00000418748:p.Cys716Trp	1105	Q8N6H8|Q8WZ15|Q9H6I4	37	CCDS10863.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.020819	0.54576	.	.	ENSG00000103067	ENST00000473183	T	0.19394	2.15	6.06	2.52	0.30459	.	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	M	0.61703	1.905	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.12630	-1.0540	10	0.72032	D	0.01	-10.2521	9.6903	0.40125	0.7449:0.0:0.2551:0.0	.	726;716	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	W	716	ENSP00000418748:C716W	ENSP00000418748:C716W	C	-	3	2	ESRP2	66821636	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.587000	0.46128	0.533000	0.28675	0.533000	0.62120	TGT	ESRP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268893.2		-	ENST00000473183.2	Missense_Mutation	SNP	16 : 68264135 - 68264135 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	381	75
NPY1R	4886	broad.mit.edu	37	4	164246480	164246480	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:164246480T>A	ENST00000296533.2	-	3	1661	c.1130A>T	c.(1129-1131)aAc>aTc	p.N377I	NPY1R_ENST00000509586.1_Missense_Mutation_p.N134I	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	377					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATCATCATTGTTGTTGATTTT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	138	138			NA	NA	4		NA											NA				164246480		2203	4300	6503	SO:0001583	missense				CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128	NA	4886		GPCR / Class A : Neuropeptide receptors : Y	7956	protein-coding gene	gene with protein product		162641		NPYR	NA	8095935	Standard		NM_000909	NA	Approved		uc003iqm.2	P25929		ENST00000296533.2:c.1130A>T	4.37:g.164246480T>A	ENSP00000354652:p.Asn377Ile	NA	B2R6H5	37	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	-	3.699	-0.061899	0.07317	.	.	ENSG00000164128	ENST00000296533;ENST00000509586	T;T	0.70631	-0.5;-0.07	4.7	1.89	0.25635	.	0.953966	0.08718	N	0.903992	T	0.54695	0.1874	N	0.22421	0.69	0.26868	N	0.96781	B	0.22909	0.077	B	0.23018	0.043	T	0.40664	-0.9551	10	0.26408	T	0.33	.	8.1168	0.30948	0.0:0.3237:0.0:0.6763	.	377	P25929	NPY1R_HUMAN	I	377;134	ENSP00000354652:N377I;ENSP00000427284:N134I	ENSP00000354652:N377I	N	-	2	0	NPY1R	164465930	0.426000	0.25506	0.091000	0.20842	0.758000	0.43043	0.555000	0.23422	0.246000	0.21394	0.533000	0.62120	AAC	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364685.1		-	ENST00000296533.2	Missense_Mutation	SNP	4 : 164246480 - 164246480 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	684	101
SLC6A11	6538	broad.mit.edu	37	3	10976731	10976731	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10976731T>G	ENST00000254488.2	+	13	1658	c.1592T>G	c.(1591-1593)tTc>tGc	p.F531C		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	531					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		TTCATCTTCTTCTTGATCAAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	138	142			NA	NA	3		NA											NA				10976731		2203	4300	6503	SO:0001583	missense			S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164	6538	6538		Solute carriers	11044	protein-coding gene	gene with protein product	GABA transporter 3	607952	solute carrier family 6 (neurotransmitter transporter, GABA), member 11		NA	7874447	Standard	NM_014229	NM_014229	NA	Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1592T>G	3.37:g.10976731T>G	ENSP00000254488:p.Phe531Cys	NA	B2R6U6	37	CCDS2602.1	.	.	.	.	.	.	.	.	.	.	T	15.76	2.927541	0.52759	.	.	ENSG00000132164	ENST00000254488	T	0.74526	-0.85	4.05	4.05	0.47172	.	0.184815	0.47093	D	0.000249	T	0.72653	0.3487	L	0.29908	0.895	0.80722	D	1	B	0.33266	0.404	P	0.49637	0.617	T	0.74127	-0.3765	10	0.66056	D	0.02	.	8.2501	0.31712	0.0:0.09:0.0:0.91	.	531	P48066	S6A11_HUMAN	C	531	ENSP00000254488:F531C	ENSP00000254488:F531C	F	+	2	0	SLC6A11	10951731	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.595000	0.36708	1.840000	0.53500	0.533000	0.62120	TTC	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251927.1		+	ENST00000254488.2	Missense_Mutation	SNP	3 : 10976731 - 10976731 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	729	135
ITGAM	3684	broad.mit.edu	37	16	31289327	31289327	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31289327G>A	ENST00000544665.3	+	12	1324	c.1253G>A	c.(1252-1254)aGc>aAc	p.S418N	ITGAM_ENST00000287497.8_Missense_Mutation_p.S418N	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	418					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CGGGTGCAAAGCCTGGTTCTG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	45	45			NA	NA	16		NA											NA				31289327		2042	4183	6225	SO:0001583	missense			J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896	3684	3684		CD molecules, Complement system, Integrins	6149	protein-coding gene	gene with protein product		120980	integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)	CR3A, CD11B	NA		Standard	NM_000632	NM_001145808	NA	Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000544665.3:c.1253G>A	16.37:g.31289327G>A	ENSP00000441691:p.Ser418Asn	NA	Q4VAK0|Q4VAK2	37	CCDS54004.1	.	.	.	.	.	.	.	.	.	.	G	7.835	0.720633	0.15372	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.21932	1.98;1.98	4.75	-2.93	0.05598	.	.	.	.	.	T	0.14013	0.0339	L	0.43554	1.36	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.004	T	0.38672	-0.9650	9	0.16896	T	0.51	.	6.729	0.23373	0.4375:0.1202:0.4423:0.0	.	418;418	Q4VAK1;P11215	.;ITAM_HUMAN	N	418	ENSP00000441691:S418N;ENSP00000287497:S418N	ENSP00000287497:S418N	S	+	2	0	ITGAM	31196828	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.896000	0.04114	-0.948000	0.03668	-2.236000	0.00289	AGC	ITGAM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432817.2		+	ENST00000544665.3	Missense_Mutation	SNP	16 : 31289327 - 31289327 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	62	12
ANAPC1	64682	broad.mit.edu	37	2	112638284	112638284	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112638284C>T	ENST00000341068.3	-	2	891	c.119G>A	c.(118-120)cGc>cAc	p.R40H	ANAPC1_ENST00000489177.1_5'UTR	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	40					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CTGCAGCTGGCGAAGTTGAAG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	53	54			NA	NA	2		NA											NA				112638284		2203	4300	6503	SO:0001583	missense			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107	64682	64682		Anaphase promoting complex subunits	19988	protein-coding gene	gene with protein product		608473			NA	11179667	Standard	NM_022662	NM_022662	NA	Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.119G>A	2.37:g.112638284C>T	ENSP00000339109:p.Arg40His	NA	Q2M3H8|Q9BSE6|Q9H8D0	37	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.964728	0.92791	.	.	ENSG00000153107	ENST00000341068	.	.	.	5.83	4.96	0.65561	.	0.000000	0.44483	U	0.000442	T	0.53932	0.1827	L	0.48362	1.52	0.53005	D	0.999967	P;B	0.49559	0.925;0.167	B;B	0.43052	0.406;0.018	T	0.57653	-0.7774	9	0.51188	T	0.08	-15.8115	14.8488	0.70281	0.0:0.9309:0.0:0.0691	.	40;40	F8WAS1;Q9H1A4	.;APC1_HUMAN	H	40	.	ENSP00000339109:R40H	R	-	2	0	ANAPC1	112354755	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.222000	0.78025	1.453000	0.47775	0.585000	0.79938	CGC	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254045.2		-	ENST00000341068.3	Missense_Mutation	SNP	2 : 112638284 - 112638284 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	59
NRXN3	9369	broad.mit.edu	37	14	80158534	80158534	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:80158534G>A	ENST00000428277.2	+	4	1006	c.620G>A	c.(619-621)cGc>cAc	p.R207H	NRXN3_ENST00000556003.1_Intron|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000557594.1_Intron|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000281127.7_Intron	NM_001105250.1	NP_001098720.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	200	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GATAATGAACGCTTCCAAATG	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	56	57			NA	NA	14		NA											NA				80158534		1802	4073	5875	SO:0001583	missense			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645	9369	9369			8010	protein-coding gene	gene with protein product		600567	chromosome 14 open reading frame 60	C14orf60	NA	11944992, 12379233	Standard	NM_001105250	NM_004796	NA	Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000428277.2:c.620G>A	14.37:g.80158534G>A	ENSP00000394426:p.Arg207His	NA	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	37	CCDS45145.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507000	0.64410	.	.	ENSG00000021645	ENST00000332068;ENST00000428277	T	0.38240	1.15	5.45	5.45	0.79879	.	.	.	.	.	T	0.51381	0.1671	.	.	.	0.80722	D	1	D	0.89917	1.0	P	0.57468	0.821	T	0.49399	-0.8944	7	.	.	.	.	13.2797	0.60208	0.0:0.0:0.8417:0.1583	.	207	Q9HDB5-4	.	H	1201;207	ENSP00000394426:R207H	.	R	+	2	0	NRXN3	79228287	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.644000	0.83416	2.555000	0.86185	0.650000	0.86243	CGC	NRXN3-006	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413792.1		+	ENST00000428277.2	Missense_Mutation	SNP	14 : 80158534 - 80158534 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	168	32
NINL	22981	broad.mit.edu	37	20	25507115	25507115	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25507115G>A	ENST00000278886.6	-	2	182	c.109C>T	c.(109-111)Ctt>Ttt	p.L37F	NINL_ENST00000422516.1_Missense_Mutation_p.L37F	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	37	EF-hand 1.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TGAAGCTTAAGGCAGAGCTGG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	129	130			NA	NA	20		NA											NA				25507115		2203	4300	6503	SO:0001583	missense				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004	22981	22981		EF-hand domain containing	29163	protein-coding gene	gene with protein product	ninein-like protein	609580			NA	10231032	Standard	NM_025176	XM_005260678	NA	Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.109C>T	20.37:g.25507115G>A	ENSP00000278886:p.Leu37Phe	NA	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	37	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.445863	0.25987	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.22134	1.97;1.97	5.11	2.05	0.26809	EF-hand-like domain (1);	1.410640	0.04275	N	0.342829	T	0.10766	0.0263	N	0.08118	0	0.22142	N	0.999338	B;B	0.16396	0.004;0.017	B;B	0.15052	0.004;0.012	T	0.29671	-1.0004	10	0.09843	T	0.71	0.1571	6.9357	0.24464	0.1545:0.0:0.7002:0.1453	.	37;37	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	F	37	ENSP00000278886:L37F;ENSP00000410431:L37F	ENSP00000278886:L37F	L	-	1	0	NINL	25455115	0.991000	0.36638	0.322000	0.25334	0.984000	0.73092	1.990000	0.40717	0.390000	0.25115	0.561000	0.74099	CTT	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078445.3		-	ENST00000278886.6	Missense_Mutation	SNP	20 : 25507115 - 25507115 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	906	151
PPP4C	5531	broad.mit.edu	37	16	30094745	30094745	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30094745C>A	ENST00000279387.7	+	6	502	c.334C>A	c.(334-336)Cgg>Agg	p.R112R	PPP4C_ENST00000561610.1_Silent_p.R112R	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	112					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						CACACTGATCCGGGGCAACCA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	94	96			NA	NA	16		NA											NA				30094745		2197	4300	6497	SO:0001819	synonymous_variant				CCDS10669.1	16p11.2	2010-03-17	2010-03-05		ENSG00000149923	ENSG00000149923	5531	5531	3.1.3.16	Serine/threonine phosphatases / Protein phosphatase, catalytic subunits	9319	protein-coding gene	gene with protein product	protein phosphatase X, catalytic subunit	602035	protein phosphatase 4 (formerly X), catalytic subunit		NA	9177794	Standard	NM_002720	NM_002720	NA	Approved	PP4, PPX	uc002dwf.3	P60510	OTTHUMG00000132113	ENST00000279387.7:c.334C>A	16.37:g.30094745C>A		NA	P33172	37	CCDS10669.1																																																																																			PPP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255155.2		+	ENST00000279387.7	Silent	SNP	16 : 30094745 - 30094745 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	607	85
SLC9C1	285335	broad.mit.edu	37	3	111999618	111999618	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111999618C>T	ENST00000305815.5	-	3	353	c.101G>A	c.(100-102)cGg>cAg	p.R34Q	SLC9C1_ENST00000467397.1_5'UTR|SLC9C1_ENST00000487372.1_Missense_Mutation_p.R34Q	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	34					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity				NA						TTCCAAGTGCCGGTTCAAAAA	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	63	62			NA	NA	3		NA											NA				111999618		2203	4300	6503	SO:0001583	missense			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139	285335	285335		Solute carriers	31401	protein-coding gene	gene with protein product	sperm-NHE	612738	solute carrier family 9, isoform 10, solute carrier family 9, member 10	SLC9A10	NA	12783626	Standard	NM_183061	NM_183061	NA	Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.101G>A	3.37:g.111999618C>T	ENSP00000306627:p.Arg34Gln	NA	Q6ZRP4|Q7RTP2	37	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	C	7.822	0.717899	0.15372	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.77620	-1.11;-1.08	5.65	0.661	0.17874	Cation/H+ exchanger (1);	1.087840	0.07143	N	0.847775	T	0.46833	0.1413	N	0.02011	-0.69	0.09310	N	1	B;B	0.21520	0.057;0.001	B;B	0.12837	0.008;0.0	T	0.32508	-0.9904	10	0.27785	T	0.31	.	0.8922	0.01256	0.5032:0.1675:0.1715:0.1578	.	34;34	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	Q	34	ENSP00000306627:R34Q;ENSP00000420688:R34Q	ENSP00000306627:R34Q	R	-	2	0	SLC9A10	113482308	0.213000	0.23551	0.447000	0.26932	0.947000	0.59692	0.504000	0.22626	0.094000	0.17404	-0.513000	0.04457	CGG	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354066.1		-	ENST00000305815.5	Missense_Mutation	SNP	3 : 111999618 - 111999618 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	200	34
PNMAL1	55228	broad.mit.edu	37	19	46971816	46971816	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46971816G>T	ENST00000438932.2	-	3	1266	c.1117C>A	c.(1117-1119)Ctg>Atg	p.L373M	PNMAL1_ENST00000602246.1_Missense_Mutation_p.L79M|PNMAL1_ENST00000313683.10_3'UTR			Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	0										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		tggtcccccagatcaaacctt	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	131	134			NA	NA	19		NA											NA				46971816		2203	4300	6503	SO:0001583	missense			BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013	55228	55228		Paraneoplastic Ma antigens	25578	protein-coding gene	gene with protein product			PNMA-like 1		NA	12477932	Standard	NM_018215	NM_018215	NA	Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000438932.2:c.1117C>A	19.37:g.46971816G>T	ENSP00000410273:p.Leu373Met	NA	A8K2F3|Q5U638|Q8N3H4|Q9NVE8	37	CCDS46124.1	.	.	.	.	.	.	.	.	.	.	G	7.811	0.715735	0.15306	.	.	ENSG00000182013	ENST00000438932	T	0.20738	2.05	3.12	0.823	0.18812	.	.	.	.	.	T	0.23926	0.0579	.	.	.	0.09310	N	1	P	0.42357	0.777	P	0.47705	0.555	T	0.15321	-1.0441	8	0.87932	D	0	.	4.8059	0.13319	0.7164:0.0:0.2836:0.0	.	373	Q86V59-2	.	M	373	ENSP00000410273:L373M	ENSP00000410273:L373M	L	-	1	2	PNMAL1	51663656	0.000000	0.05858	0.006000	0.13384	0.066000	0.16364	-0.160000	0.10041	0.137000	0.18759	-0.459000	0.05422	CTG	PNMAL1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466554.1		-	ENST00000438932.2	Missense_Mutation	SNP	19 : 46971816 - 46971816 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	498	73
NALCN	259232	broad.mit.edu	37	13	101710303	101710303	+	Missense_Mutation	SNP	G	G	A	rs143587652		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101710303G>A	ENST00000251127.6	-	43	5092	c.5011C>T	c.(5011-5013)Cgt>Tgt	p.R1671C	NALCN-AS1_ENST00000457843.1_RNA	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1671						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GAGGGCAGACGCCACTGCCCA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/ARG	0,4406		0,0,2203	91	93	92		5011	4.4	1	13	dbSNP_134	92	1,8599	1.2+/-3.3	0,1,4299	no	missense	NALCN	NM_052867.2	180	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	1671/1739	101710303	1,13005	2203	4300	6503	SO:0001583	missense			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452	259232	259232		Ion channels / Sodium leak channels, non-selective	19082	protein-coding gene	gene with protein product		611549	voltage gated channel like 1	VGCNL1	NA	17448995	Standard	NM_052867	XM_006719943	NA	Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.5011C>T	13.37:g.101710303G>A	ENSP00000251127:p.Arg1671Cys	NA	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587370	0.66105	0.0	1.16E-4	ENSG00000102452	ENST00000251127	D	0.97994	-4.65	5.29	4.45	0.53987	.	0.103999	0.64402	N	0.000003	D	0.93223	0.7841	N	0.08118	0	0.80722	D	1	D	0.63880	0.993	B	0.44278	0.445	D	0.93482	0.6828	10	0.66056	D	0.02	.	11.949	0.52944	0.1454:0.0:0.8546:0.0	.	1671	Q8IZF0	NALCN_HUMAN	C	1671	ENSP00000251127:R1671C	ENSP00000251127:R1671C	R	-	1	0	NALCN	100508304	1.000000	0.71417	0.997000	0.53966	0.902000	0.53008	4.238000	0.58688	1.221000	0.43506	0.655000	0.94253	CGT	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045663.2		-	ENST00000251127.6	Missense_Mutation	SNP	13 : 101710303 - 101710303 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	458	58
TRPC6	7225	broad.mit.edu	37	11	101374763	101374763	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:101374763C>T	ENST00000532133.1	-	2	939	c.937G>A	c.(937-939)Gag>Aag	p.E313K	TRPC6_ENST00000360497.4_Missense_Mutation_p.E313K|TRPC6_ENST00000348423.4_Missense_Mutation_p.E313K|TRPC6_ENST00000344327.3_Missense_Mutation_p.E313K			Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	313					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ACCTTGAACTCTTTCTCAATA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(166;1315 1927 11094 12848 34731)							NA				0													136	127	130			NA	NA	11		NA											NA				101374763		2203	4299	6502	SO:0001583	missense			AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672	7225	7225		Voltage-gated ion channels / Transient receptor potential cation channels	12338	protein-coding gene	gene with protein product		603652	focal segmental glomerulosclerosis 2	FSGS2	NA	9925922, 16382100, 15879175	Standard	NM_004621	NM_004621	NA	Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000532133.1:c.937G>A	11.37:g.101374763C>T	ENSP00000435574:p.Glu313Lys	NA	Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	37		.	.	.	.	.	.	.	.	.	.	C	29.8	5.036539	0.93630	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	5.7	5.7	0.88788	Transient receptor potential II (1);	0.000000	0.85682	D	0.000000	D	0.95436	0.8518	M	0.90595	3.13	0.80722	D	1	D;D;D	0.55385	0.964;0.961;0.971	P;D;P	0.63381	0.742;0.914;0.832	D	0.95753	0.8793	10	0.87932	D	0	-0.7207	19.8405	0.96681	0.0:1.0:0.0:0.0	.	313;313;313	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	K	313	ENSP00000340913:E313K;ENSP00000435574:E313K;ENSP00000343672:E313K;ENSP00000353687:E313K	ENSP00000340913:E313K	E	-	1	0	TRPC6	100879973	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.692000	0.91855	0.655000	0.94253	GAG	TRPC6-004	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000394771.1		-	ENST00000532133.1	Missense_Mutation	SNP	11 : 101374763 - 101374763 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	735	125
PARD3B	117583	broad.mit.edu	37	2	206166414	206166414	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206166414C>T	ENST00000406610.2	+	18	2826	c.2619C>T	c.(2617-2619)ggC>ggT	p.G873G	PARD3B_ENST00000351153.1_Silent_p.G804G|PARD3B_ENST00000358768.2_Silent_p.G811G|PARD3B_ENST00000462231.1_Silent_p.G873G|PARD3B_ENST00000349953.3_Silent_p.G873G	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	873	Lys-rich.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		aggGCTTCGGCGCCATGCTGA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	50	50			NA	NA	2		NA											NA				206166414		1880	4100	5980	SO:0001819	synonymous_variant			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117	117583	117583			14446	protein-coding gene	gene with protein product			amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19, par-3 partitioning defective 3 homolog B (C. elegans)	ALS2CR19	NA	11586298, 12459187	Standard	NM_057177	NM_057177	NA	Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2619C>T	2.37:g.206166414C>T		NA	Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	37																																																																																				PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000335992.1		+	ENST00000406610.2	Silent	SNP	2 : 206166414 - 206166414 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	57
RFFL	117584	broad.mit.edu	37	17	33348547	33348547	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33348547C>T	ENST00000315249.7	-	3	656	c.434G>A	c.(433-435)aGg>aAg	p.R145K	RFFL_ENST00000268850.7_Missense_Mutation_p.R145K|RFFL_ENST00000413582.2_Missense_Mutation_p.R145K|RFFL_ENST00000415395.2_Missense_Mutation_p.R145K|RFFL_ENST00000584655.1_Missense_Mutation_p.R145K|RFFL_ENST00000378516.2_Missense_Mutation_p.R145K|RFFL_ENST00000394597.2_Missense_Mutation_p.R145K|RFFL_ENST00000447669.2_Missense_Mutation_p.R145K|RAD51L3-RFFL_ENST00000593039.1_Intron			Q8WZ73	RFFL_HUMAN	ring finger and FYVE-like domain containing E3 ubiquitin protein ligase	145					apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GGCACGAGTCCTGTCCTCCTG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	66	71			NA	NA	17		NA											NA				33348547		2203	4300	6503	SO:0001583	missense			AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871	117584	117584		RING-type (C3HC4) zinc fingers	24821	protein-coding gene	gene with protein product		609735	ring finger and FYVE-like domain containing		NA	15229288	Standard	NM_057178	NR_037713	NA	Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.434G>A	17.37:g.33348547C>T	ENSP00000326170:p.Arg145Lys	NA	E1P633|Q8NHW0|Q8TBY7|Q96BE6	37	CCDS11286.1	.	.	.	.	.	.	.	.	.	.	C	9.551	1.115960	0.20795	.	.	ENSG00000092871	ENST00000315249;ENST00000394597;ENST00000378516;ENST00000268850;ENST00000413582;ENST00000415395	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.98;0.97;0.97	5.65	4.68	0.58851	.	0.406087	0.30201	N	0.010166	T	0.30634	0.0771	L	0.42245	1.32	0.30764	N	0.743764	P;P;B;B	0.43287	0.802;0.627;0.323;0.225	B;B;B;B	0.40677	0.337;0.295;0.079;0.114	T	0.18871	-1.0323	10	0.06099	T	0.92	-22.2961	10.0295	0.42092	0.0:0.8343:0.0:0.1657	.	145;145;145;145	C9JN73;Q8WZ73-3;Q8WZ73;Q8WZ73-2	.;.;RFFL_HUMAN;.	K	145	ENSP00000326170:R145K;ENSP00000378096:R145K;ENSP00000367777:R145K;ENSP00000268850:R145K;ENSP00000408513:R145K;ENSP00000412322:R145K	ENSP00000268850:R145K	R	-	2	0	RFFL	30372660	1.000000	0.71417	1.000000	0.80357	0.300000	0.27592	3.146000	0.50631	1.630000	0.50440	0.655000	0.94253	AGG	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256460.2		-	ENST00000315249.7	Missense_Mutation	SNP	17 : 33348547 - 33348547 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	198	45
PYGM	5837	broad.mit.edu	37	11	64518890	64518890	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64518890C>A	ENST00000164139.3	-	16	2274	c.1876G>T	c.(1876-1878)Gcc>Tcc	p.A626S	PYGM_ENST00000462303.1_5'UTR|PYGM_ENST00000377432.3_Missense_Mutation_p.A538S	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	626					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TCCCCGATGGCTGTGACGAGT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	103	102			NA	NA	11		NA											NA				64518890		2201	4297	6498	SO:0001583	missense				CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	5837	5837	2.4.1.1	Glycogen phosphorylases	9726	protein-coding gene	gene with protein product	McArdle syndrome, glycogen storage disease type V, glycogen phosphorylase, muscle form	608455	phosphorylase, glycogen; muscle		NA		Standard	NM_005609	NM_005609	NA	Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1876G>T	11.37:g.64518890C>A	ENSP00000164139:p.Ala626Ser	NA	A0AVK1	37	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	C	5.899	0.349894	0.11182	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.92911	-2.98;-3.13	5.16	3.12	0.35913	.	0.221691	0.32372	N	0.006195	T	0.78729	0.4329	N	0.04724	-0.175	0.58432	D	0.999994	B;B	0.06786	0.001;0.0	B;B	0.20767	0.021;0.031	T	0.70985	-0.4723	10	0.02654	T	1	-21.054	10.5174	0.44898	0.4743:0.5257:0.0:0.0	.	538;626	A6NDY6;P11217	.;PYGM_HUMAN	S	538;626;607	ENSP00000366650:A538S;ENSP00000164139:A626S	ENSP00000164139:A626S	A	-	1	0	PYGM	64275466	0.001000	0.12720	0.981000	0.43875	0.947000	0.59692	-0.092000	0.11129	1.381000	0.46364	0.561000	0.74099	GCC	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000143254.2		-	ENST00000164139.3	Missense_Mutation	SNP	11 : 64518890 - 64518890 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	385	69
PHLPP1	23239	broad.mit.edu	37	18	60642662	60642662	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:60642662G>A	ENST00000262719.5	+	16	4022	c.3788G>A	c.(3787-3789)gGt>gAt	p.G1263D	PHLPP1_ENST00000400316.4_Missense_Mutation_p.G751D			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1263	PP2C-like.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						AAGCTTGGTGGTGCCGCTGTC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	137	138			NA	NA	18		NA											NA				60642662		2041	4183	6224	SO:0001583	missense			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913	23239	23239		Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent, Pleckstrin homology (PH) domain containing	20610	protein-coding gene	gene with protein product		609396	pleckstrin homology domain containing, family E (with leucine rich repeats) member 1, PH domain and leucine rich repeat protein phosphatase	PLEKHE1, PHLPP	NA	10570941, 15808505	Standard	NM_194449	NM_194449	NA	Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.3788G>A	18.37:g.60642662G>A	ENSP00000262719:p.Gly1263Asp	NA	A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	37	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352950	0.82132	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.09630	2.96;2.96	5.28	5.28	0.74379	Protein phosphatase 2C-like (4);	.	.	.	.	T	0.29716	0.0742	L	0.52905	1.665	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00270	-1.1860	9	0.30854	T	0.27	-13.5906	19.1036	0.93283	0.0:0.0:1.0:0.0	.	1263	O60346	PHLP1_HUMAN	D	751;1263	ENSP00000383170:G751D;ENSP00000262719:G1263D	ENSP00000262719:G1263D	G	+	2	0	PHLPP1	58793642	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	5.244000	0.65400	2.751000	0.94390	0.555000	0.69702	GGT	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319249.2		+	ENST00000262719.5	Missense_Mutation	SNP	18 : 60642662 - 60642662 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	566	80
DST	667	broad.mit.edu	37	6	56505335	56505335	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56505335C>T	ENST00000361203.3	-	14	1470	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H	DST_ENST00000244364.6_Missense_Mutation_p.R162H|DST_ENST00000370788.2_Missense_Mutation_p.R488H|DST_ENST00000370765.6_Missense_Mutation_p.R162H|DST_ENST00000370754.5_Missense_Mutation_p.R666H|DST_ENST00000370769.4_Missense_Mutation_p.R488H|DST_ENST00000421834.2_Missense_Mutation_p.R488H|DST_ENST00000446842.2_Missense_Mutation_p.R162H|DST_ENST00000518935.1_Missense_Mutation_p.R162H|DST_ENST00000312431.6_Missense_Mutation_p.R488H			Q03001	DYST_HUMAN	dystonin	488					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGTCAGTATGCGTCCTTTGCT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	108	108			NA	NA	6		NA											NA				56505335		2203	4300	6503	SO:0001583	missense			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914	667	667		EF-hand domain containing	1090	protein-coding gene	gene with protein product		113810	bullous pemphigoid antigen 1, 230/240kDa	BPAG1	NA	2461961, 2276744	Standard	NM_001723	NM_001144770	NA	Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.1463G>A	6.37:g.56505335C>T	ENSP00000354508:p.Arg488His	NA	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	37		.	.	.	.	.	.	.	.	.	.	C	20.5	4.000343	0.74818	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935;ENST00000449297	D;D;D;D;D;D;D;D;D;D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13	5.65	5.65	0.86999	.	0.111620	0.40554	N	0.001064	D	0.87358	0.6157	N	0.11064	0.09	0.28576	N	0.910365	B;B;D;B;B;B;P;D;B;D	0.89917	0.021;0.135;1.0;0.135;0.257;0.027;0.733;0.992;0.135;0.976	B;B;D;B;B;B;B;P;B;P	0.78314	0.004;0.019;0.991;0.019;0.039;0.007;0.163;0.795;0.019;0.548	D	0.84741	0.0751	9	0.15952	T	0.53	.	13.5198	0.61561	0.0:0.9205:0.0:0.0795	.	517;488;488;666;604;162;162;162;488;162	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	H	162;666;488;488;162;488;488;488;162;528;162;162;666	ENSP00000244364:R162H;ENSP00000359790:R666H;ENSP00000359805:R488H;ENSP00000400883:R488H;ENSP00000393645:R162H;ENSP00000307959:R488H;ENSP00000359824:R488H;ENSP00000354508:R488H;ENSP00000404924:R162H;ENSP00000431030:R528H;ENSP00000359801:R162H;ENSP00000431003:R162H;ENSP00000393082:R666H	ENSP00000244364:R162H	R	-	2	0	DST	56613294	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	2.398000	0.44486	2.941000	0.99782	0.655000	0.94253	CGC	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000041021.3		-	ENST00000361203.3	Missense_Mutation	SNP	6 : 56505335 - 56505335 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	625	113
TP63	8626	broad.mit.edu	37	3	189349340	189349340	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:189349340G>A	ENST00000264731.3	+	1	125	c.36G>A	c.(34-36)caG>caA	p.Q12Q	TP63_ENST00000320472.5_Silent_p.Q12Q|TP63_ENST00000382063.4_Silent_p.Q12Q|TP63_ENST00000440651.2_Silent_p.Q12Q|TP63_ENST00000418709.2_Silent_p.Q12Q|TP63_ENST00000392460.3_Silent_p.Q12Q	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	12	Transcription activation.				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCACCCTACAGTACTGCCCTG	0.383		NA								HNSCC(45;0.13)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	163	167			NA	NA	3		NA											NA				189349340		2203	4300	6503	SO:0001819	synonymous_variant			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282	8626	8626			15979	protein-coding gene	gene with protein product		603273	tumor protein p73-like, tumor protein p53-like, tumor protein p53-competing protein	TP73L, TP53L, TP53CP	NA	9774969, 9662378, 11181441, 11181451	Standard	NM_003722	NM_003722	NA	Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.36G>A	3.37:g.189349340G>A		NA	O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	37	CCDS3293.1																																																																																			TP63-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343865.1		+	ENST00000264731.3	Silent	SNP	3 : 189349340 - 189349340 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	985	160
GYS2	2998	broad.mit.edu	37	12	21690005	21690005	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21690005A>G	ENST00000261195.2	-	16	2249	c.1995T>C	c.(1993-1995)gaT>gaC	p.D665D		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	665					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CGTATCTCTCATCCTCCACTT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(149;9 1820 3690 10544 50424)							NA				0													197	137	158			NA	NA	12		NA											NA				21690005		2203	4300	6503	SO:0001819	synonymous_variant				CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2998	2998	2.4.1.11	Glycosyltransferase group 1 domain containing	4707	protein-coding gene	gene with protein product		138571			NA		Standard	NM_021957	NM_021957	NA	Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.1995T>C	12.37:g.21690005A>G		NA	A0AVD8	37	CCDS8690.1																																																																																			GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402396.1		-	ENST00000261195.2	Silent	SNP	12 : 21690005 - 21690005 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	82
AKAP6	9472	broad.mit.edu	37	14	32902714	32902714	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:32902714C>T	ENST00000554449.1	+	0	345				AKAP6_ENST00000280979.4_Silent_p.S5S|AKAP6_ENST00000557354.1_Silent_p.S5S|AKAP6_ENST00000557272.1_Silent_p.S5S			Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	NA					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TAACCATGAGCGTGACACTTT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(49;821 1200 7288 13647 42351)							NA				0													80	73	75			NA	NA	14		NA											NA				32902714		2203	4300	6503	SO:0001624	3_prime_UTR_variant			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320	9472	9472		A-kinase anchor proteins	376	protein-coding gene	gene with protein product	protein kinase A anchoring protein 6	604691			NA	7721854, 9205841	Standard	NM_004274	NM_004274	NA	Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000554449.1:c.*342C>T	14.37:g.32902714C>T		NA	A7E2D4|O15028	37																																																																																				AKAP6-006	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000409748.1		+	ENST00000554449.1	3'UTR	SNP	14 : 32902714 - 32902714 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	216	37
TRPV2	51393	broad.mit.edu	37	17	16340106	16340106	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16340106C>T	ENST00000338560.7	+	15	2597	c.2198C>T	c.(2197-2199)aCt>aTt	p.T733I	TRPV2_ENST00000577397.1_Missense_Mutation_p.T303I	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	733					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTTACAGGAACTCTCGAGAAC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													186	160	169			NA	NA	17		NA											NA				16340106		2203	4300	6503	SO:0001583	missense			AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688	51393	51393		Voltage-gated ion channels / Transient receptor potential cation channels, Ankyrin repeat domain containing	18082	protein-coding gene	gene with protein product		606676			NA	10201375, 16382100	Standard	NM_016113	NM_016113	NA	Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.2198C>T	17.37:g.16340106C>T	ENSP00000342222:p.Thr733Ile	NA	A6NML2|A8K0Z0|Q9Y670	37	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	C	5.905	0.350976	0.11182	.	.	ENSG00000187688	ENST00000338560	D	0.88201	-2.35	3.73	0.454	0.16644	.	1.775310	0.03096	N	0.160447	T	0.80686	0.4670	L	0.29908	0.895	0.09310	N	1	B	0.16166	0.016	B	0.18263	0.021	T	0.61888	-0.6970	10	0.22109	T	0.4	-23.241	1.9786	0.03421	0.2164:0.4745:0.1926:0.1165	.	733	Q9Y5S1	TRPV2_HUMAN	I	733	ENSP00000342222:T733I	ENSP00000342222:T733I	T	+	2	0	TRPV2	16280831	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.164000	0.16542	0.141000	0.18875	0.561000	0.74099	ACT	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130464.2		+	ENST00000338560.7	Missense_Mutation	SNP	17 : 16340106 - 16340106 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	670	114
FLRT1	23769	broad.mit.edu	37	11	63883842	63883842	+	Missense_Mutation	SNP	C	C	A	rs142810860	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63883842C>A	ENST00000246841.3	+	2	1146	c.103C>A	c.(103-105)Ctg>Atg	p.L35M	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	7	LRRNT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						GCGGGACTGGCTGTTCCTCTG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	64	81			NA	NA	11		NA											NA				63883842		2201	4297	6498	SO:0001583	missense			AF169675	CCDS8057.1	11q13.1	2014-03-03					23769	23769		Fibronectin type III domain containing	3760	protein-coding gene	gene with protein product		604806			NA	10644439, 24482476	Standard	NM_013280	NM_013280	NA	Approved	MGC21624, SPG68	uc001nyi.1	Q9NZU1		ENST00000246841.3:c.103C>A	11.37:g.63883842C>A	ENSP00000246841:p.Leu35Met	NA	Q8WVA2	37	CCDS8057.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544389	0.65198	.	.	ENSG00000126500	ENST00000246841	T	0.56776	0.44	5.4	4.48	0.54585	.	0.220980	0.29537	N	0.011865	T	0.66839	0.2830	M	0.67397	2.05	0.52501	D	0.999958	D	0.65815	0.995	P	0.62298	0.9	T	0.70081	-0.4970	10	0.72032	D	0.01	-13.9043	13.3834	0.60783	0.0:0.9211:0.0:0.0789	.	7	Q9NZU1	FLRT1_HUMAN	M	35	ENSP00000246841:L35M	ENSP00000246841:L35M	L	+	1	2	FLRT1	63640418	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.440000	0.44855	2.537000	0.85549	0.561000	0.74099	CTG	FLRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396287.2		+	ENST00000246841.3	Missense_Mutation	SNP	11 : 63883842 - 63883842 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	150	37
DST	667	broad.mit.edu	37	6	56468647	56468647	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56468647G>T	ENST00000361203.3	-	36	10153	c.10146C>A	c.(10144-10146)agC>agA	p.S3382R	DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Missense_Mutation_p.S3560R|DST_ENST00000370769.4_Missense_Mutation_p.S3382R|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.S3056R|DST_ENST00000312431.6_Missense_Mutation_p.S3382R			Q03001	DYST_HUMAN	dystonin	3382					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTTCGGTTGAGCTATCTCCAG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	58	59			NA	NA	6		NA											NA				56468647		1865	4103	5968	SO:0001583	missense			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914	667	667		EF-hand domain containing	1090	protein-coding gene	gene with protein product		113810	bullous pemphigoid antigen 1, 230/240kDa	BPAG1	NA	2461961, 2276744	Standard	NM_001723	NM_001144770	NA	Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.10146C>A	6.37:g.56468647G>T	ENSP00000354508:p.Ser3382Arg	NA	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	37		.	.	.	.	.	.	.	.	.	.	G	10.86	1.469648	0.26423	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;D;T;T	0.81739	-0.05;-0.05;0.9;-1.53;-0.08;-0.59	5.63	1.12	0.20585	.	0.727216	0.12485	N	0.464726	T	0.38321	0.1036	.	.	.	0.34183	D	0.671197	B	0.12630	0.006	B	0.10450	0.005	T	0.02574	-1.1139	8	0.10636	T	0.68	.	5.8097	0.18460	0.3137:0.1434:0.5429:0.0	.	3056	Q03001-9	.	R	3560;3382;3056;3382;3382;3056	ENSP00000359790:S3560R;ENSP00000359805:S3382R;ENSP00000393645:S3056R;ENSP00000307959:S3382R;ENSP00000354508:S3382R;ENSP00000404924:S3056R	ENSP00000307959:S3382R	S	-	3	2	DST	56576606	0.000000	0.05858	0.000000	0.03702	0.227000	0.25037	-0.001000	0.12947	0.278000	0.22164	0.655000	0.94253	AGC	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000041021.3		-	ENST00000361203.3	Missense_Mutation	SNP	6 : 56468647 - 56468647 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	122	17
SUGP1	57794	broad.mit.edu	37	19	19391072	19391072	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19391072C>A	ENST00000247001.5	-	9	1619	c.1272G>T	c.(1270-1272)gaG>gaT	p.E424D		NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	424					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						GCTTCCCCTTCTCATAGCCGA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	82	85			NA	NA	19		NA											NA				19391072		2203	4300	6503	SO:0001583	missense			AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705	57794	57794		G patch domain containing	18643	protein-coding gene	gene with protein product		607992	splicing factor 4	SF4	NA	12594045	Standard	NM_021164	NM_172231	NA	Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.1272G>T	19.37:g.19391072C>A	ENSP00000247001:p.Glu424Asp	NA	O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	37	CCDS12399.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.402382	0.25291	.	.	ENSG00000105705	ENST00000247001	T	0.23552	1.9	4.6	4.6	0.57074	.	0.213520	0.39146	N	0.001444	T	0.11153	0.0272	N	0.08118	0	0.80722	D	1	B	0.16166	0.016	B	0.10450	0.005	T	0.17440	-1.0369	10	0.19590	T	0.45	.	6.7122	0.23284	0.0:0.7194:0.1826:0.098	.	424	Q8IWZ8	SUGP1_HUMAN	D	424	ENSP00000247001:E424D	ENSP00000247001:E424D	E	-	3	2	SUGP1	19252072	0.970000	0.33590	1.000000	0.80357	0.665000	0.39181	0.146000	0.16180	2.128000	0.65567	0.313000	0.20887	GAG	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460128.4		-	ENST00000247001.5	Missense_Mutation	SNP	19 : 19391072 - 19391072 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	527	47
LTK	4058	broad.mit.edu	37	15	41805286	41805286	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41805286C>A	ENST00000561619.1	-	1	130				LTK_ENST00000453182.2_Nonsense_Mutation_p.E26*|LTK_ENST00000263800.6_Nonsense_Mutation_p.E26*|LTK_ENST00000355166.5_Nonsense_Mutation_p.E26*			P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	NA					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		AGAAAAGTCTCCTGGGACCCC	0.617		NA								TSP Lung(18;0.14)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	21	19			NA	NA	15		NA											NA				41805286		2185	4286	6471	SO:0001627	intron_variant			D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	4058	4058	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	leukocyte tyrosine kinase		NA	2320375	Standard		NM_206961	NA	Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000561619.1:c.43+578G>T	15.37:g.41805286C>A		NA	A6NNJ8	37		.	.	.	.	.	.	.	.	.	.	C	19.39	3.818287	0.71028	.	.	ENSG00000062524	ENST00000360087;ENST00000355166;ENST00000263800;ENST00000453182	.	.	.	4.15	-1.42	0.08913	.	1.747210	0.04129	U	0.317719	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	7.9101	0.29785	0.0:0.5192:0.0:0.4808	.	.	.	.	X	26	.	ENSP00000263800:E26X	E	-	1	0	LTK	39592578	0.011000	0.17503	0.001000	0.08648	0.225000	0.24961	0.468000	0.22051	-0.355000	0.08199	-0.258000	0.10820	GAG	LTK-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000419600.1		-	ENST00000561619.1	Intron	SNP	15 : 41805286 - 41805286 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	98	20
PIK3CD	5293	broad.mit.edu	37	1	9780047	9780047	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9780047C>T	ENST00000377346.4	+	10	1506	c.1311C>T	c.(1309-1311)cgC>cgT	p.R437R	PIK3CD_ENST00000361110.2_Silent_p.R402R|PIK3CD_ENST00000536656.1_Silent_p.R402R|PIK3CD_ENST00000543390.1_Silent_p.R104R	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	437					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		CCGGGGAACGCTGCCTCTACA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	125	130			NA	NA	1		NA											NA				9780047		2203	4300	6503	SO:0001819	synonymous_variant				CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	5293	5293	2.7.1.153		8977	protein-coding gene	gene with protein product	phosphatidylinositol 3-kinase, catalytic, delta polypeptide, phosphoinositide-3-kinase C	602839	phosphoinositide-3-kinase, catalytic, delta polypeptide		NA	9113989, 9455486	Standard	NM_005026	NM_005026	NA	Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.1311C>T	1.37:g.9780047C>T		NA	A6NCG0|O15445|Q5SR49	37	CCDS104.1																																																																																			PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000004235.1		+	ENST00000377346.4	Silent	SNP	1 : 9780047 - 9780047 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	962	178
OPHN1	4983	broad.mit.edu	37	X	67283811	67283811	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:67283811C>A	ENST00000355520.5	-	21	2684	c.2043G>T	c.(2041-2043)ggG>ggT	p.G681G	OPHN1_ENST00000484842.1_5'UTR|OPHN1_ENST00000540071.1_Intron	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	681	Pro-rich.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TGATCTTGGTCCCTCCATCCT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	60	66			NA	NA	X		NA											NA				67283811		2203	4300	6503	SO:0001819	synonymous_variant			AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482	4983	4983		Rho GTPase activating proteins	8148	protein-coding gene	gene with protein product		300127	mental retardation, X-linked 60	MRX60	NA	9195162, 9582072	Standard	NM_002547	NM_002547	NA	Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.2043G>T	X.37:g.67283811C>A		NA	B9EIP8|Q5JQ81|Q8WX47	37	CCDS14388.1																																																																																			OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057011.1		-	ENST00000355520.5	Silent	SNP	X : 67283811 - 67283811 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	182	39
USH1C	10083	broad.mit.edu	37	11	17545008	17545008	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17545008G>A	ENST00000005226.7	-	10	776	c.777C>T	c.(775-777)gtC>gtT	p.V259V	USH1C_ENST00000527020.1_Silent_p.V259V|USH1C_ENST00000318024.4_Silent_p.V259V|USH1C_ENST00000527720.1_Silent_p.V228V	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	259	PDZ 2.				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CATTGACTTCGACAATCTGGT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	106	111			NA	NA	11		NA											NA				17545008		2200	4293	6493	SO:0001819	synonymous_variant			AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611	10083	10083			12597	protein-coding gene	gene with protein product	harmonin	605242	deafness, autosomal recessive 18	DFNB18	NA	10973247, 12107438	Standard	NM_005709	NM_005709	NA	Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000005226.7:c.777C>T	11.37:g.17545008G>A		NA	A8K423|Q96B29|Q9UM04|Q9UM17|Q9UPC3	37	CCDS7825.1																																																																																			USH1C-006	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389153.1		-	ENST00000005226.7	Silent	SNP	11 : 17545008 - 17545008 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	229	47
LRP1	4035	broad.mit.edu	37	12	57587035	57587035	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57587035C>T	ENST00000243077.3	+	46	8098	c.7632C>T	c.(7630-7632)tgC>tgT	p.C2544C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2544	LDL-receptor class A 11.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCCTGACCTGCGACGGCGTCC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	80	86			NA	NA	12		NA											NA				57587035		2203	4300	6503	SO:0001819	synonymous_variant			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384	4035	4035		CD molecules, Low density lipoprotein receptors	6692	protein-coding gene	gene with protein product		107770	alpha-2-macroglobulin receptor	APR, A2MR	NA	2548950	Standard	NM_002332	NM_002332	NA	Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.7632C>T	12.37:g.57587035C>T		NA	Q2PP12|Q8IVG8	37	CCDS8932.1																																																																																			LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412772.2		+	ENST00000243077.3	Silent	SNP	12 : 57587035 - 57587035 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	481	87
GSE1	23199	broad.mit.edu	37	16	85690962	85690962	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85690962G>A	ENST00000253458.7	+	8	1568	c.1392G>A	c.(1390-1392)acG>acA	p.T464T	GSE1_ENST00000393243.1_Silent_p.T391T|GSE1_ENST00000405402.2_Silent_p.T360T	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein	NA											NA						CACACCACACGGTGCCCAGCC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	56	59			NA	NA	16		NA											NA				85690962		2197	4299	6496	SO:0001819	synonymous_variant			D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149	23199	23199			28979	protein-coding gene	gene with protein product	genetic suppressor element 1		KIAA0182, Gse1 coiled-coil protein homolog (mouse)	KIAA0182	NA	8724849, 8786132	Standard	NM_014615	NM_014615	NA	Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.1392G>A	16.37:g.85690962G>A		NA		37	CCDS10952.1	.	.	.	.	.	.	.	.	.	.	G	2.896	-0.228678	0.06022	.	.	ENSG00000131149	ENST00000412692	.	.	.	5.07	-10.1	0.00402	.	.	.	.	.	T	0.33118	0.0852	.	.	.	0.50632	D	0.999886	.	.	.	.	.	.	T	0.43925	-0.9361	4	.	.	.	-0.2401	2.2276	0.03988	0.233:0.1632:0.3746:0.2292	.	.	.	.	Q	271	.	.	R	+	2	0	KIAA0182	84248463	0.000000	0.05858	0.001000	0.08648	0.471000	0.32888	-4.634000	0.00205	-3.194000	0.00219	-0.311000	0.09066	CGG	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325527.1		+	ENST00000253458.7	Silent	SNP	16 : 85690962 - 85690962 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	546	92
GPR107	57720	broad.mit.edu	37	9	132848734	132848734	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132848734T>C	ENST00000372406.1	+	7	1107	c.600T>C	c.(598-600)aaT>aaC	p.N200N	GPR107_ENST00000372410.3_Silent_p.N200N|GPR107_ENST00000347136.6_Silent_p.N200N	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	200						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				TTCATAATAATGGTGGGGCAG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													200	194	196			NA	NA	9		NA											NA				132848734		2203	4300	6503	SO:0001819	synonymous_variant			AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358	NA	57720		GPCR / Unclassified : 7TM orphan receptors	17830	protein-coding gene	gene with protein product					NA		Standard		NM_020960	NA	Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.600T>C	9.37:g.132848734T>C		NA	A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	37	CCDS48041.1																																																																																			GPR107-003	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054643.2		+	ENST00000372406.1	Silent	SNP	9 : 132848734 - 132848734 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	615	105
VANGL1	81839	broad.mit.edu	37	1	116233771	116233771	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:116233771C>T	ENST00000355485.2	+	8	1617	c.1346C>T	c.(1345-1347)cCc>cTc	p.P449L	VANGL1_ENST00000369510.4_Missense_Mutation_p.P447L|VANGL1_ENST00000310260.3_Missense_Mutation_p.P449L|VANGL1_ENST00000369509.1_Missense_Mutation_p.P449L	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	449					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		AGTGCGGGCCCCACCCTGCAA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	76	80			NA	NA	1		NA											NA				116233771		2203	4300	6503	SO:0001583	missense			AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218	81839	81839			15512	protein-coding gene	gene with protein product		610132	vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila), vang-like 1 (van gogh, Drosophila)		NA	11956595, 12011995	Standard		NM_001172411	NA	Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	ENST00000355485.2:c.1346C>T	1.37:g.116233771C>T	ENSP00000347672:p.Pro449Leu	NA	Q5T1D3|Q5T1D4|Q86WG8|Q8N559	37	CCDS883.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996543	0.93167	.	.	ENSG00000173218	ENST00000355485;ENST00000369510;ENST00000310260;ENST00000369509	D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.94991	0.8379	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94849	0.8012	10	0.54805	T	0.06	-16.6377	18.5856	0.91188	0.0:1.0:0.0:0.0	.	447;449	Q8TAA9-2;Q8TAA9	.;VANG1_HUMAN	L	449;447;449;449	ENSP00000347672:P449L;ENSP00000358523:P447L;ENSP00000310800:P449L;ENSP00000358522:P449L	ENSP00000310800:P449L	P	+	2	0	VANGL1	116035294	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.651000	0.83577	2.617000	0.88574	0.655000	0.94253	CCC	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033096.1		+	ENST00000355485.2	Missense_Mutation	SNP	1 : 116233771 - 116233771 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	285	43
GPR132	29933	broad.mit.edu	37	14	105517775	105517775	+	Silent	SNP	G	G	A	rs75775050	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105517775G>A	ENST00000392585.2	-	3	845	c.672C>T	c.(670-672)agC>agT	p.S224S	GPR132_ENST00000539291.2_Silent_p.S233S|GPR132_ENST00000329797.3_Silent_p.S233S	NM_001278695.1	NP_001265624.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	233					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S233S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		TCTGGGCAGCGCTTAAGCCCA	0.577		NA											G	21	0.01	NA	NA	2184	0.04	1	,	,	NA	3e-04	NA	NA	NA	0.0096	1	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				1	Substitution - coding silent(1)	stomach(1)						G		0,4406		0,0,2203	96	87	90		699	0.1	0.3	14	dbSNP_131	90	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	GPR132	NM_013345.2		0,5,6498	AA,AG,GG	NA	0.0581,0.0,0.0384		233/381	105517775	5,13001	2203	4300	6503	SO:0001819	synonymous_variant			AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484	29933	29933		GPCR / Class A : Orphans	17482	protein-coding gene	gene with protein product	G2 accumulation	606167			NA	12086852	Standard	NM_013345	NM_013345	NA	Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000392585.2:c.672C>T	14.37:g.105517775G>A		NA	Q9BSU2	37																																																																																				GPR132-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000409279.1		-	ENST00000392585.2	Silent	SNP	14 : 105517775 - 105517775 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	363	87
OR1Q1	158131	broad.mit.edu	37	9	125377105	125377105	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125377105T>G	ENST00000297913.2	+	1	158	c.89T>G	c.(88-90)gTt>gGt	p.V30G	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						CTCTTCCTTGTTTTCTCACTC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													226	205	212			NA	NA	9		NA											NA				125377105		2203	4300	6503	SO:0001583	missense				CCDS35125.1	9q33.2	2013-09-20			ENSG00000165202	ENSG00000165202	158131	158131		GPCR / Class A : Olfactory receptors	8223	protein-coding gene	gene with protein product				OR1Q2, OR1Q3	NA		Standard		NM_012364	NA	Approved	OST226, OR9-A, HSTPCR106, OST226OR9-A, TPCR106	uc011lyy.2	Q15612	OTTHUMG00000020615	ENST00000297913.2:c.89T>G	9.37:g.125377105T>G	ENSP00000297913:p.Val30Gly	NA	Q6IFN4|Q8NGR7|Q96R82	37	CCDS35125.1	.	.	.	.	.	.	.	.	.	.	T	11.86	1.765450	0.31228	.	.	ENSG00000165202	ENST00000297913	T	0.03152	4.03	5.43	5.43	0.79202	.	0.158012	0.30011	N	0.010629	T	0.04679	0.0127	L	0.31420	0.93	0.48830	D	0.99971	B	0.23735	0.09	B	0.26416	0.069	T	0.41342	-0.9514	10	0.87932	D	0	-2.0674	14.609	0.68501	0.0:0.0:0.0:1.0	.	30	Q15612	OR1Q1_HUMAN	G	30	ENSP00000297913:V30G	ENSP00000297913:V30G	V	+	2	0	OR1Q1	124416926	0.419000	0.25449	0.054000	0.19295	0.354000	0.29330	4.135000	0.57997	2.280000	0.76307	0.533000	0.62120	GTT	OR1Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053946.1		+	ENST00000297913.2	Missense_Mutation	SNP	9 : 125377105 - 125377105 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	876	145
POLR3B	55703	broad.mit.edu	37	12	106857272	106857272	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:106857272G>T	ENST00000228347.4	+	23	2809	c.2587G>T	c.(2587-2589)Gac>Tac	p.D863Y	POLR3B_ENST00000539066.1_Missense_Mutation_p.D805Y	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	863					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.D863N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						AGGAGCAACAGACTCATATAT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											68	67	67			NA	NA	12		NA											NA				106857272		2203	4300	6503	SO:0001583	missense			AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503	55703	55703		RNA polymerase subunits	30348	protein-coding gene	gene with protein product		614366			NA	12391170	Standard	NM_018082	NM_018082	NA	Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.2587G>T	12.37:g.106857272G>T	ENSP00000228347:p.Asp863Tyr	NA	A8K6H0|Q9NW59	37	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902964	0.33628	.	.	ENSG00000013503	ENST00000228347;ENST00000539066	T;T	0.72505	-0.66;-0.66	5.73	5.73	0.89815	RNA polymerase Rpb2, OB-fold (1);DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.040742	0.85682	D	0.000000	T	0.65015	0.2651	L	0.35414	1.06	0.80722	D	1	B	0.12013	0.005	B	0.18263	0.021	T	0.58885	-0.7557	10	0.49607	T	0.09	-29.9656	19.8984	0.96975	0.0:0.0:1.0:0.0	.	863	Q9NW08	RPC2_HUMAN	Y	863;805	ENSP00000228347:D863Y;ENSP00000445721:D805Y	ENSP00000228347:D863Y	D	+	1	0	POLR3B	105381402	1.000000	0.71417	0.953000	0.39169	0.109000	0.19521	9.827000	0.99397	2.712000	0.92718	0.555000	0.69702	GAC	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407166.1		+	ENST00000228347.4	Missense_Mutation	SNP	12 : 106857272 - 106857272 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	327	52
FCGBP	8857	broad.mit.edu	37	19	40354319	40354319	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40354319G>A	ENST00000221347.6	-	35	16157	c.16150C>T	c.(16150-16152)Cat>Tat	p.H5384Y		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5384	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGGGAGTCATGCCAATCATTG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	79	84			NA	NA	19		NA											NA				40354319		2203	4300	6503	SO:0001583	missense			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395	8857	8857			13572	protein-coding gene	gene with protein product	IgG Fc binding protein, Human Fc gamma BP				NA	9182547	Standard	NM_003890	NM_003890	NA	Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.16150C>T	19.37:g.40354319G>A	ENSP00000221347:p.His5384Tyr	NA	O95784	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.472442	0.00167	.	.	ENSG00000090920	ENST00000221347	T	0.58797	0.31	4.73	-0.618	0.11576	von Willebrand factor, type D domain (3);	2.516040	0.02440	N	0.084491	T	0.33673	0.0871	N	0.08118	0	0.09310	N	1	B	0.25904	0.137	B	0.24701	0.055	T	0.14476	-1.0471	10	0.16896	T	0.51	.	4.2223	0.10563	0.0836:0.1329:0.5119:0.2716	.	5384	Q9Y6R7	FCGBP_HUMAN	Y	5384	ENSP00000221347:H5384Y	ENSP00000221347:H5384Y	H	-	1	0	FCGBP	45046159	0.002000	0.14202	0.001000	0.08648	0.030000	0.12068	1.152000	0.31663	0.123000	0.18342	-0.444000	0.05651	CAT	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462507.1		-	ENST00000221347.6	Missense_Mutation	SNP	19 : 40354319 - 40354319 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	277	56
ABCA12	26154	broad.mit.edu	37	2	215820074	215820074	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215820074A>G	ENST00000272895.7	-	43	6464	c.6245T>C	c.(6244-6246)tTt>tCt	p.F2082S	ABCA12_ENST00000389661.4_Missense_Mutation_p.F1764S|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2082					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CATCCAGGAAAATGTTGCATA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(66;664 1488 5121 34295)							NA				0													78	72	74			NA	NA	2		NA											NA				215820074		2203	4300	6503	SO:0001583	missense			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452	26154	26154		ATP binding cassette transporters / subfamily A	14637	protein-coding gene	gene with protein product		607800	ichthyosis congenita II, lamellar ichthyosis B	ICR2B	NA	11435397, 12915478, 8845852, 10094194	Standard	NM_173076	NM_015657	NA	Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6245T>C	2.37:g.215820074A>G	ENSP00000272895:p.Phe2082Ser	NA	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.718292	0.89205	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.82803	-1.65;-1.65	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000001	D	0.90150	0.6922	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.974	D	0.90896	0.4765	10	0.66056	D	0.02	.	16.2002	0.82067	1.0:0.0:0.0:0.0	.	2082;1764	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	S	2082;1764	ENSP00000272895:F2082S;ENSP00000374312:F1764S	ENSP00000272895:F2082S	F	-	2	0	ABCA12	215528319	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.468000	0.80943	2.285000	0.76669	0.528000	0.53228	TTT	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337111.1		-	ENST00000272895.7	Missense_Mutation	SNP	2 : 215820074 - 215820074 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	416	103
RBM48	84060	broad.mit.edu	37	7	92163909	92163909	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92163909C>T	ENST00000481551.1	+	4	683	c.642C>T	c.(640-642)tcC>tcT	p.S214S	RBM48_ENST00000265732.5_Silent_p.S214S			Q5RL73	CG064_HUMAN	RNA binding motif protein 48	214							nucleotide binding				NA						TGTGTTCATCCGGGGGACCTG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,3743		0,1,1871	132	117	122		642	-1.8	0	7		122	0,8210		0,0,4105	no	coding-synonymous	C7orf64	NM_032120.2		0,1,5976	TT,TC,CC	NA	0.0,0.0267,0.0084		214/368	92163909	1,11953	1872	4105	5977	SO:0001819	synonymous_variant			AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993	84060	84060		RNA binding motif (RRM) containing	21785	protein-coding gene	gene with protein product			chromosome 7 open reading frame 64	C7orf64	NA		Standard	NM_032120	NM_032120	NA	Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000481551.1:c.642C>T	7.37:g.92163909C>T		NA	B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	37																																																																																				RBM48-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000356077.1		+	ENST00000481551.1	Silent	SNP	7 : 92163909 - 92163909 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	362	48
RUVBL2	10856	broad.mit.edu	37	19	49510398	49510398	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49510398G>A	ENST00000595090.1	+	5	853	c.389G>A	c.(388-390)cGc>cAc	p.R130H	RUVBL2_ENST00000601968.1_Missense_Mutation_p.R85H|RUVBL2_ENST00000413176.2_Missense_Mutation_p.R85H	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	130					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		ATCGGCGTTCGCATCAAGTAA	0.657		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	19		NA											NA				49510398		1939	4129	6068	SO:0001583	missense			AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12				10856	10856		INO80 complex subunits, ATPases / AAA-type	10475	protein-coding gene	gene with protein product	reptin, INO80 complex subunit J	604788	RuvB (E coli homolog)-like 2, RuvB-like 2 (E. coli)		NA	10428817, 10998447	Standard		XM_005258426	NA	Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.389G>A	19.37:g.49510398G>A	ENSP00000473172:p.Arg130His	NA	Q6FIB9|Q6PK27|Q9Y361	37	CCDS42588.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829808	0.71258	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T;T	0.58652	0.32;0.55	5.33	5.33	0.75918	TIP49, C-terminal (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.81740	0.4886	H	0.94542	3.55	0.80722	D	1	D;P;D	0.89917	1.0;0.458;0.999	D;B;D	0.65233	0.926;0.07;0.933	D	0.86680	0.1916	10	0.72032	D	0.01	-22.1592	16.8831	0.86068	0.0:0.0:1.0:0.0	.	130;130;96	B4DW30;Q9Y230;B3KNL2	.;RUVB2_HUMAN;.	H	130;85	ENSP00000221413:R130H;ENSP00000413890:R85H	ENSP00000221413:R130H	R	+	2	0	RUVBL2	54202210	1.000000	0.71417	0.985000	0.45067	0.551000	0.35334	8.874000	0.92363	2.667000	0.90743	0.561000	0.74099	CGC	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466235.1		+	ENST00000595090.1	Missense_Mutation	SNP	19 : 49510398 - 49510398 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	587	25
HERC6	55008	broad.mit.edu	37	4	89317258	89317258	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89317258G>T	ENST00000380265.5	+	6	1034	c.851G>T	c.(850-852)aGa>aTa	p.R284I	HERC6_ENST00000273960.3_Missense_Mutation_p.R284I|HERC6_ENST00000264346.7_Missense_Mutation_p.R284I	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	284					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CTTGTGGAAAGAATTGATGGC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	97	97			NA	NA	4		NA											NA				89317258		1881	4119	6000	SO:0001583	missense			AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642	55008	55008			26072	protein-coding gene	gene with protein product		609249	hect domain and RLD 6		NA		Standard		NM_001165136	NA	Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000380265.5:c.851G>T	4.37:g.89317258G>T	ENSP00000369617:p.Arg284Ile	NA	B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	37	CCDS54777.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.475392	0.43942	.	.	ENSG00000138642	ENST00000380265;ENST00000438983;ENST00000511939;ENST00000273960;ENST00000264346	D;T;D	0.84146	-1.81;-1.32;-1.81	4.29	2.4	0.29515	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	1.443550	0.04262	N	0.340499	T	0.75398	0.3844	N	0.17723	0.515	0.09310	N	1	P;B	0.44090	0.826;0.0	B;B	0.40506	0.331;0.002	T	0.67213	-0.5727	10	0.34782	T	0.22	.	5.7191	0.17976	0.1896:0.1643:0.6461:0.0	.	284;284	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	I	284	ENSP00000369617:R284I;ENSP00000273960:R284I;ENSP00000264346:R284I	ENSP00000264346:R284I	R	+	2	0	HERC6	89536281	0.010000	0.17322	0.471000	0.27229	0.853000	0.48598	1.106000	0.31098	1.162000	0.42619	-0.339000	0.08088	AGA	HERC6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363261.1		+	ENST00000380265.5	Missense_Mutation	SNP	4 : 89317258 - 89317258 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	51
POMK	84197	broad.mit.edu	37	8	42977294	42977294	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42977294G>T	ENST00000331373.5	+	5	582	c.327G>T	c.(325-327)caG>caT	p.Q109H		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1			protein-O-mannose kinase	109											NA						CACTCTCACAGCTCACCAGCC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	113	117			NA	NA	8		NA											NA				42977294		2203	4300	6503	SO:0001583	missense				CCDS6141.1	8p11.21	2013-08-22			ENSG00000185900	ENSG00000185900	84197	84197			26267	protein-coding gene	gene with protein product		615247			NA	16879967, 23519211	Standard	NM_032237	NM_001277971	NA	Approved	FLJ23356, SgK196		Q9H5K3	OTTHUMG00000164100	ENST00000331373.5:c.327G>T	8.37:g.42977294G>T	ENSP00000331258:p.Gln109His	NA		37	CCDS6141.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535902	0.45176	.	.	ENSG00000185900	ENST00000518991;ENST00000331373	T;T	0.73681	-0.77;1.96	5.77	3.91	0.45181	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.573927	0.19123	N	0.122135	T	0.71367	0.3331	L	0.56340	1.77	0.21184	N	0.999764	P	0.45594	0.862	P	0.51355	0.667	T	0.58289	-0.7662	10	0.13470	T	0.59	-13.1479	4.891	0.13726	0.079:0.151:0.6132:0.1568	.	109	Q9H5K3	SG196_HUMAN	H	109	ENSP00000429090:Q109H;ENSP00000331258:Q109H	ENSP00000331258:Q109H	Q	+	3	2	AC113191.1	43096451	0.451000	0.25705	0.969000	0.41365	0.765000	0.43378	0.566000	0.23593	0.834000	0.34852	-0.182000	0.12963	CAG	POMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377291.2		+	ENST00000331373.5	Missense_Mutation	SNP	8 : 42977294 - 42977294 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	518	91
CACNA1A	773	broad.mit.edu	37	19	13325114	13325114	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13325114G>T	ENST00000360228.5	-	40	5872	c.5873C>A	c.(5872-5874)gCc>gAc	p.A1958D	CACNA1A_ENST00000573710.2_Missense_Mutation_p.A1959D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1959					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GATCATCATGGCTGCGTAGAT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	41	40			NA	NA	19		NA											NA				13325114		2169	4272	6441	SO:0001583	missense			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837	773	773		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP	NA	8825650, 16382099, 23827678	Standard	NM_000068	NM_000068	NA	Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5873C>A	19.37:g.13325114G>T	ENSP00000353362:p.Ala1958Asp	NA	P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9UDC4	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562411	0.65538	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	T	0.72394	-0.65	4.72	4.72	0.59763	Voltage-dependent calcium channel, alpha-1 subunit, IQ domain (1);	0.000000	0.64402	D	0.000001	D	0.83211	0.5205	M	0.71036	2.16	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.87578	0.996;0.994;0.998;0.996	D	0.85729	0.1330	10	0.87932	D	0	.	16.4549	0.84009	0.0:0.0:1.0:0.0	.	1959;1964;1958;1959	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	D	1958;1964;1959;1959	ENSP00000353362:A1958D	ENSP00000317661:A1959D	A	-	2	0	CACNA1A	13186114	1.000000	0.71417	0.989000	0.46669	0.868000	0.49771	9.353000	0.97080	2.184000	0.69523	0.491000	0.48974	GCC	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000104062.2		-	ENST00000360228.5	Missense_Mutation	SNP	19 : 13325114 - 13325114 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	159	23
RNASE13	440163	broad.mit.edu	37	14	21502136	21502136	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21502136C>A	ENST00000382951.3	-	2	449	c.312G>T	c.(310-312)caG>caT	p.Q104H	NDRG2_ENST00000403829.3_Intron	NM_001012264.3	NP_001012264.1	Q5GAN3	RNS13_HUMAN	ribonuclease, RNase A family, 13 (non-active)	104						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		GGAGGGAATCCTGGGTGAGTG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													254	205	222			NA	NA	14		NA											NA				21502136		2203	4300	6503	SO:0001583	missense			AY665808	CCDS32039.1	14q11.1	2011-02-10			ENSG00000206150	ENSG00000206150	440163	440163		Ribonucleases, RNase A	25285	protein-coding gene	gene with protein product					NA		Standard		NM_001012264	NA	Approved		uc001vzj.3	Q5GAN3		ENST00000382951.3:c.312G>T	14.37:g.21502136C>A	ENSP00000372410:p.Gln104His	NA		37	CCDS32039.1	.	.	.	.	.	.	.	.	.	.	C	9.289	1.050194	0.19827	.	.	ENSG00000206150	ENST00000382951	T	0.73258	-0.73	5.42	3.32	0.38043	Ribonuclease A, domain (3);	1.234980	0.05590	N	0.574488	T	0.53012	0.1770	N	0.12182	0.205	0.09310	N	1	B	0.19073	0.033	B	0.25405	0.06	T	0.41106	-0.9527	10	0.33940	T	0.23	-46.6539	5.426	0.16425	0.0:0.6805:0.208:0.1115	.	104	Q5GAN3	RNS13_HUMAN	H	104	ENSP00000372410:Q104H	ENSP00000372410:Q104H	Q	-	3	2	RNASE13	20571976	0.000000	0.05858	0.026000	0.17262	0.004000	0.04260	0.439000	0.21575	2.545000	0.85829	0.650000	0.86243	CAG	RNASE13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411744.1		-	ENST00000382951.3	Missense_Mutation	SNP	14 : 21502136 - 21502136 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	592	56
NKX2-1	7080	broad.mit.edu	37	14	36986961	36986961	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36986961C>T	ENST00000518149.1	-	3	1243	c.638G>A	c.(637-639)cGc>cAc	p.R213H	NKX2-1_ENST00000354822.5_Missense_Mutation_p.R243H|NKX2-1_ENST00000522719.2_Missense_Mutation_p.R213H|NKX2-1_ENST00000498187.2_Missense_Mutation_p.R213H|RP11-896J10.3_ENST00000521945.1_RNA			P43699	NKX21_HUMAN	NK2 homeobox 1	213			R -> S (in BHC; dbSNP:rs28936671).		epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		CATTTTGTAGCGGTGGTTCTG	0.672		NA	A		NSCLC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		14	14q13	7080	NK2 homeobox 1		E	0													34	31	32			NA	NA	14		NA											NA				36986961		2203	4300	6503	SO:0001583	missense				CCDS9659.1, CCDS41945.1	14q13.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000136352	ENSG00000136352	7080	7080		Homeoboxes / ANTP class : NKL subclass	11825	protein-coding gene	gene with protein product		600635	benign chorea, thyroid transcription factor 1	NKX2A, BCH, TITF1	NA	1976511	Standard	NM_003317	NM_001079668	NA	Approved	TTF-1, TTF1	uc001wtu.3	P43699	OTTHUMG00000140225	ENST00000518149.1:c.638G>A	14.37:g.36986961C>T	ENSP00000428341:p.Arg213His	NA	D3DSA3|O14954|O14955|Q7KZF6|Q9BRJ8	37	CCDS9659.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704399	0.88924	.	.	ENSG00000136352	ENST00000354822;ENST00000498187;ENST00000518149;ENST00000522719	D;D;D;D	0.99158	-5.5;-5.5;-5.5;-5.5	4.39	4.39	0.52855	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99670	0.9877	H	0.99764	4.76	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.991;0.995	D	0.96931	0.9681	10	0.87932	D	0	.	16.9385	0.86209	0.0:1.0:0.0:0.0	.	243;213	P43699-3;P43699	.;NKX21_HUMAN	H	243;213;213;213	ENSP00000346879:R243H;ENSP00000429607:R213H;ENSP00000428341:R213H;ENSP00000429519:R213H	ENSP00000346879:R243H	R	-	2	0	NKX2-1	36056712	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.639000	0.83342	2.005000	0.58758	0.555000	0.69702	CGC	NKX2-1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376225.2		-	ENST00000518149.1	Missense_Mutation	SNP	14 : 36986961 - 36986961 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	115	11
IRAK1BP1	134728	broad.mit.edu	37	6	79595126	79595126	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79595126G>A	ENST00000369940.2	+	2	452	c.347G>A	c.(346-348)aGg>aAg	p.R116K	IRAK1BP1_ENST00000607739.1_Missense_Mutation_p.R29K	NM_001010844.2	NP_001010844.1	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1 binding protein 1	116					I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		AAGGATTTTAGGAGAGTGGAA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	110	107			NA	NA	6		NA											NA				79595126		2203	4299	6502	SO:0001583	missense			AI478629	CCDS34488.1	6q14-q15	2006-04-12				ENSG00000146243	134728	134728			17368	protein-coding gene	gene with protein product		615375			NA	11096118	Standard	XM_059729	XM_005248654	NA	Approved	AIP70, SIMPL	uc003pim.4	Q5VVH5		ENST00000369940.2:c.347G>A	6.37:g.79595126G>A	ENSP00000358956:p.Arg116Lys	NA		37	CCDS34488.1	.	.	.	.	.	.	.	.	.	.	g	8.962	0.970850	0.18659	.	.	ENSG00000146243	ENST00000369940	.	.	.	5.28	3.34	0.38264	.	0.370642	0.29015	N	0.013412	T	0.06234	0.0161	N	0.12182	0.205	0.25863	N	0.983809	B	0.02656	0.0	B	0.06405	0.002	T	0.33240	-0.9876	8	.	.	.	.	6.8345	0.23929	0.0998:0.178:0.7222:0.0	.	116	Q5VVH5	IKBP1_HUMAN	K	116	.	.	R	+	2	0	IRAK1BP1	79651845	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.289000	0.51747	1.188000	0.43014	0.650000	0.86243	AGG	IRAK1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041296.2		+	ENST00000369940.2	Missense_Mutation	SNP	6 : 79595126 - 79595126 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	451	68
NID2	22795	broad.mit.edu	37	14	52534638	52534638	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52534638C>A	ENST00000216286.5	-	2	471	c.472G>T	c.(472-474)Gcc>Tcc	p.A158S	NID2_ENST00000541773.1_Missense_Mutation_p.A105S	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	158	NIDO.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TCCCAGGTGGCCAGGAAGGCG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	69	64			NA	NA	14		NA											NA				52534638		2176	4264	6440	SO:0001583	missense			AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303	22795	22795			13389	protein-coding gene	gene with protein product		605399			NA	9733643	Standard		NM_007361	NA	Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.472G>T	14.37:g.52534638C>A	ENSP00000216286:p.Ala158Ser	NA	A8K6I7|B4DU19|O43710	37	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450520	0.84101	.	.	ENSG00000087303	ENST00000216286;ENST00000541773;ENST00000395707	T;T	0.20463	2.07;2.07	5.58	5.58	0.84498	Nidogen, extracellular domain (2);	0.202722	0.52532	D	0.000080	T	0.47893	0.1470	M	0.88979	2.995	0.31430	N	0.673213	P;D;P	0.53745	0.925;0.962;0.877	P;P;B	0.52672	0.453;0.706;0.265	T	0.61898	-0.6968	10	0.72032	D	0.01	.	19.579	0.95458	0.0:1.0:0.0:0.0	.	105;160;158	Q14112-2;Q5CZI2;Q14112	.;.;NID2_HUMAN	S	158;105;160	ENSP00000216286:A158S;ENSP00000443730:A105S	ENSP00000216286:A158S	A	-	1	0	NID2	51604388	0.992000	0.36948	1.000000	0.80357	0.996000	0.88848	3.463000	0.53050	2.626000	0.88956	0.563000	0.77884	GCC	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276888.1		-	ENST00000216286.5	Missense_Mutation	SNP	14 : 52534638 - 52534638 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1019	207
WIF1	11197	broad.mit.edu	37	12	65462580	65462580	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:65462580G>T	ENST00000286574.4	-	4	876	c.502C>A	c.(502-504)Cct>Act	p.P168T		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	168	WIF.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		GCATTTTGAGGTGTTTGGAGA	0.413		NA	T	HMGA2	pleomorphic salivary gland adenoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(148;1595 1816 48559 49439 49664)		Dom	yes		12	12q14.3	11197	WNT inhibitory factor 1		E	0													194	179	184			NA	NA	12		NA											NA				65462580		2203	4300	6503	SO:0001583	missense			AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076	11197	11197			18081	protein-coding gene	gene with protein product		605186			NA	10201374	Standard		NM_007191	NA	Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.502C>A	12.37:g.65462580G>T	ENSP00000286574:p.Pro168Thr	NA	Q6UXI1|Q8WVG4	37	CCDS8971.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.888886	0.72524	.	.	ENSG00000156076	ENST00000286574;ENST00000546001	T;T	0.41758	0.99;0.99	5.51	5.51	0.81932	WIF domain (4);	0.000000	0.85682	D	0.000000	T	0.62048	0.2396	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.56655	-0.7943	9	.	.	.	.	19.7885	0.96447	0.0:0.0:1.0:0.0	.	168	Q9Y5W5	WIF1_HUMAN	T	168;106	ENSP00000286574:P168T;ENSP00000442063:P106T	.	P	-	1	0	WIF1	63748847	1.000000	0.71417	0.970000	0.41538	0.560000	0.35617	8.158000	0.89649	2.758000	0.94735	0.655000	0.94253	CCT	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401258.2		-	ENST00000286574.4	Missense_Mutation	SNP	12 : 65462580 - 65462580 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	496	81
ZNF213	7760	broad.mit.edu	37	16	3187397	3187397	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3187397G>T	ENST00000396878.3	+	2	591	c.116G>T	c.(115-117)aGg>aTg	p.R39M	ZNF213_ENST00000574902.1_Missense_Mutation_p.R39M|ZNF213_ENST00000576416.1_Missense_Mutation_p.R39M	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	39					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						GAGGATGGCAGGGATTCCGAA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	41	40			NA	NA	16		NA											NA				3187397		2197	4298	6495	SO:0001583	missense			AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644	7760	7760		Zinc fingers, C2H2-type, -, -, -	13005	protein-coding gene	gene with protein product		608387			NA	9653642, 10023065	Standard	NM_004220	NM_004220	NA	Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.116G>T	16.37:g.3187397G>T	ENSP00000380087:p.Arg39Met	NA	A8K1B9|Q96IS1	37	CCDS10495.1	.	.	.	.	.	.	.	.	.	.	G	5.818	0.335251	0.11013	.	.	ENSG00000085644	ENST00000396878	T	0.05717	3.4	5.12	1.98	0.26296	Retrovirus capsid, C-terminal (1);	0.760921	0.11583	N	0.549599	T	0.10380	0.0254	L	0.43152	1.355	0.09310	N	1	P	0.52577	0.954	P	0.52109	0.69	T	0.21930	-1.0231	10	0.66056	D	0.02	.	6.7552	0.23510	0.189:0.184:0.627:0.0	.	39	O14771	ZN213_HUMAN	M	39	ENSP00000380087:R39M	ENSP00000380087:R39M	R	+	2	0	ZNF213	3127398	0.000000	0.05858	0.350000	0.25708	0.663000	0.39108	0.087000	0.14958	0.581000	0.29539	-0.140000	0.14226	AGG	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437334.1		+	ENST00000396878.3	Missense_Mutation	SNP	16 : 3187397 - 3187397 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	411	65
ST14	6768	broad.mit.edu	37	11	130067743	130067743	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130067743G>A	ENST00000278742.5	+	12	1780	c.1362G>A	c.(1360-1362)ccG>ccA	p.P454P		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	454	LDL-receptor class A 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CAGCATGCCCGGGGCAGTTCA	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	17	18			NA	NA	11		NA											NA				130067743		2191	4290	6481	SO:0001819	synonymous_variant			AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418	6768	6768		Serine peptidases / Transmembrane	11344	protein-coding gene	gene with protein product	epithin, matriptase	606797		PRSS14	NA	9925927, 10373424	Standard		NM_021978	NA	Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.1362G>A	11.37:g.130067743G>A		NA	Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	37	CCDS8487.1																																																																																			ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386119.1		+	ENST00000278742.5	Silent	SNP	11 : 130067743 - 130067743 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	61	10
RPP40	10799	broad.mit.edu	37	6	5000852	5000852	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:5000852T>C	ENST00000319533.5	-	3	302				RPP40_ENST00000380051.2_Silent_p.A94A|RPP40_ENST00000464646.1_Silent_p.A34A			O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	NA					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				TGTATGTTAGTGCATAGCAAG	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	83	80			NA	NA	6		NA											NA				5000852		2203	4300	6503	SO:0001627	intron_variant			U94317	CCDS34333.1, CCDS69040.1, CCDS75391.1	6p25.1	2012-05-21	2007-06-26	2004-03-19	ENSG00000124787	ENSG00000124787	10799	10799			20992	protein-coding gene	gene with protein product		606117	ribonuclease P1, ribonuclease P 40kDa subunit	RNASEP1	NA	9630247	Standard	NM_006638	NM_006638	NA	Approved	bA428J1.3	uc003mwl.3	O75818	OTTHUMG00000014168	ENST00000319533.5:c.269-714A>G	6.37:g.5000852T>C		NA	Q5VX97|Q8WVK8	37																																																																																				RPP40-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000039734.2		-	ENST00000319533.5	Intron	SNP	6 : 5000852 - 5000852 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	295	76
ADCY10	55811	broad.mit.edu	37	1	167874257	167874257	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167874257C>T	ENST00000367851.4	-	2	306	c.122G>A	c.(121-123)gGa>gAa	p.G41E	ADCY10_ENST00000476818.2_Missense_Mutation_p.G41E|ADCY10_ENST00000367848.1_5'UTR|ADCY10_ENST00000545172.1_Intron	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	41					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CATCAGGACTCCGTCAAAATA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	108	109			NA	NA	1		NA											NA				167874257		2203	4300	6503	SO:0001583	missense			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	55811	55811	4.6.1.1	Adenylate cyclases	21285	protein-coding gene	gene with protein product	soluble adenylyl cyclase, Hypercalciuria, absorptive, 2	605205			NA		Standard	NM_018417	XM_006711449	NA	Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.122G>A	1.37:g.167874257C>T	ENSP00000356825:p.Gly41Glu	NA	O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	37	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471987	0.84533	.	.	ENSG00000143199	ENST00000367851	T	0.39406	1.08	5.57	5.57	0.84162	Adenylyl cyclase class-3/4/guanylyl cyclase (2);	0.000000	0.64402	D	0.000010	T	0.57021	0.2025	M	0.73962	2.25	0.34549	D	0.711135	D	0.89917	1.0	D	0.97110	1.0	T	0.58797	-0.7573	9	0.46703	T	0.11	-18.9717	15.0548	0.71904	0.0:1.0:0.0:0.0	.	41	Q96PN6	ADCYA_HUMAN	E	41	ENSP00000356825:G41E	ENSP00000356825:G41E	G	-	2	0	ADCY10	166140881	0.997000	0.39634	1.000000	0.80357	0.937000	0.57800	4.168000	0.58216	2.606000	0.88127	0.650000	0.86243	GGA	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083663.1		-	ENST00000367851.4	Missense_Mutation	SNP	1 : 167874257 - 167874257 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	461	105
GABRA4	2557	broad.mit.edu	37	4	46995361	46995361	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46995361C>T	ENST00000264318.3	-	1	1063	c.81G>A	c.(79-81)gcG>gcA	p.A27A	GABRA4_ENST00000509316.1_5'UTR	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	27					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTCACCAAACCGCCAGGCACA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(6;283 369 8234 12290 33402)							NA				0													104	101	102			NA	NA	4		NA											NA				46995361		2203	4300	6503	SO:0001819	synonymous_variant				CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158	2557	2557		GABA receptors, Ligand-gated ion channels / GABA(A) receptors	4078	protein-coding gene	gene with protein product	GABA(A) receptor, alpha 4	137141			NA	7607683	Standard		NM_000809	NA	Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.81G>A	4.37:g.46995361C>T		NA	Q8IYR7	37	CCDS3473.1																																																																																			GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216893.1		-	ENST00000264318.3	Silent	SNP	4 : 46995361 - 46995361 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	974	145
DLG5	9231	broad.mit.edu	37	10	79613246	79613246	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:79613246C>T	ENST00000372391.2	-	5	735	c.730G>A	c.(730-732)Gtg>Atg	p.V244M	DLG5_ENST00000372388.2_Missense_Mutation_p.V244M	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	244					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AGCATGTCCACGTCATCCTTC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	35	39			NA	NA	10		NA											NA				79613246		2203	4300	6503	SO:0001583	missense			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208	9231	9231			2904	protein-coding gene	gene with protein product		604090	discs, large (Drosophila) homolog 5		NA	9738934	Standard		XM_005270276	NA	Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.730G>A	10.37:g.79613246C>T	ENSP00000361467:p.Val244Met	NA	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	37	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654864	0.47467	.	.	ENSG00000151208	ENST00000372391;ENST00000372388	T;T	0.04862	3.57;3.54	4.6	2.7	0.31948	.	0.459506	0.16221	N	0.224044	T	0.01800	0.0057	N	0.01576	-0.805	0.23546	N	0.997444	B	0.31705	0.336	B	0.12837	0.008	T	0.42155	-0.9468	10	0.44086	T	0.13	.	3.1793	0.06579	0.1891:0.495:0.0:0.3159	.	244	Q8TDM6	DLG5_HUMAN	M	244	ENSP00000361467:V244M;ENSP00000361464:V244M	ENSP00000361464:V244M	V	-	1	0	DLG5	79283252	0.855000	0.29742	0.691000	0.30163	0.980000	0.70556	1.338000	0.33873	0.460000	0.27045	0.655000	0.94253	GTG	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048900.2		-	ENST00000372391.2	Missense_Mutation	SNP	10 : 79613246 - 79613246 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	120	23
NDUFAF3	25915	broad.mit.edu	37	3	49060385	49060385	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49060385C>T	ENST00000326925.6	+	4	1548	c.414C>T	c.(412-414)ggC>ggT	p.G138G	NDUFAF3_ENST00000395458.2_Silent_p.G81G|NDUFAF3_ENST00000326912.4_Silent_p.G81G|NDUFAF3_ENST00000451378.2_Silent_p.G81G	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	138					mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						GGCAGCGGGGCATTGCTGTGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	84	81			NA	NA	3		NA											NA				49060385		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057	25915	25915		Mitochondrial respiratory chain complex assembly factors	29918	protein-coding gene	gene with protein product		612911	chromosome 3 open reading frame 60, NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3	C3orf60	NA	12653254, 9349717	Standard	NM_199069	NM_199069	NA	Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773	ENST00000326925.6:c.414C>T	3.37:g.49060385C>T		NA		37	CCDS2784.1																																																																																			NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345683.2		+	ENST00000326925.6	Silent	SNP	3 : 49060385 - 49060385 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	642	51
ZNF497	162968	broad.mit.edu	37	19	58867645	58867645	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58867645G>A	ENST00000311044.3	-	3	1545	c.1357C>T	c.(1357-1359)Cgc>Tgc	p.R453C	CTD-2619J13.8_ENST00000599109.1_RNA|ZNF497_ENST00000425453.3_Missense_Mutation_p.R453C	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		TCCGACTTGCGCACGAAGGCC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	14	14			NA	NA	19		NA											NA				58867645		2197	4297	6494	SO:0001583	missense			AK126727	CCDS12977.1	19q13.43	2013-01-08			ENSG00000174586	ENSG00000174586	162968	162968		Zinc fingers, C2H2-type	23714	protein-coding gene	gene with protein product					NA		Standard	NM_198458	NM_198458	NA	Approved	FLJ44773	uc002qsi.2	Q6ZNH5		ENST00000311044.3:c.1357C>T	19.37:g.58867645G>A	ENSP00000311183:p.Arg453Cys	NA	Q05AG8|Q0VF48|Q6ZTD2|Q9UIA8	37	CCDS12977.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778249	0.49786	.	.	ENSG00000174586	ENST00000311044;ENST00000425453	T;T	0.30182	1.54;1.54	1.14	-2.29	0.06805	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35740	0.0942	L	0.39633	1.23	0.09310	N	1	D	0.89917	1.0	D	0.73708	0.981	T	0.21861	-1.0233	9	0.54805	T	0.06	.	1.8909	0.03247	0.1423:0.1924:0.4699:0.1954	.	453	Q6ZNH5	ZN497_HUMAN	C	453	ENSP00000311183:R453C;ENSP00000402815:R453C	ENSP00000311183:R453C	R	-	1	0	ZNF497	63559457	0.000000	0.05858	0.005000	0.12908	0.374000	0.29953	-1.391000	0.02525	-1.225000	0.02578	0.195000	0.17529	CGC	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466942.2		-	ENST00000311044.3	Missense_Mutation	SNP	19 : 58867645 - 58867645 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	76	13
RANBP17	64901	broad.mit.edu	37	5	170345732	170345732	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:170345732G>T	ENST00000523189.1	+	10	1134	c.970G>T	c.(970-972)Ggt>Tgt	p.G324C		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	324					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTCTGATCCAGGTAATTATCA	0.333		NA	T	TRD@	ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		5	5q34	64901	RAN binding protein 17		L	0													138	134	136			NA	NA	5		NA											NA				170345732		2203	4299	6502	SO:0001583	missense			AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764	64901	64901			14428	protein-coding gene	gene with protein product		606141			NA	11024021	Standard	NM_022897	NM_022897	NA	Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.970G>T	5.37:g.170345732G>T	ENSP00000427975:p.Gly324Cys	NA		37	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	g	21.1	4.104061	0.76983	.	.	ENSG00000204764	ENST00000523189;ENST00000545246	T	0.49432	0.78	5.74	5.74	0.90152	Armadillo-type fold (1);	0.000000	0.64402	D	0.000006	T	0.56217	0.1970	L	0.53249	1.67	0.42504	D	0.992947	D	0.62365	0.991	P	0.54759	0.76	T	0.58836	-0.7566	10	0.66056	D	0.02	-15.4537	12.8262	0.57721	0.0754:0.0:0.9246:0.0	.	324	Q9H2T7	RBP17_HUMAN	C	324;220	ENSP00000427975:G324C	ENSP00000373770:G324C	G	+	1	0	RANBP17	170278337	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.096000	0.57734	2.712000	0.92718	0.491000	0.48974	GGT	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372036.1		+	ENST00000523189.1	Missense_Mutation	SNP	5 : 170345732 - 170345732 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	272	20
SCN7A	6332	broad.mit.edu	37	2	167288898	167288898	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167288898C>T	ENST00000409855.1	-	15	2648	c.2522G>A	c.(2521-2523)gGa>gAa	p.G841E		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	841					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ATCAGATTCTCCTGAAGCAAT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	117	118			NA	NA	2		NA											NA				167288898		1903	4102	6005	SO:0001583	missense			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546	6332	6332		Sodium channels, Voltage-gated ion channels / Sodium channels	10594	protein-coding gene	gene with protein product		182392	sodium channel, voltage-gated, type VI, alpha, sodium channel, voltage-gated, type VII, alpha	SCN6A	NA	10198179	Standard		NM_002976	NA	Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.2522G>A	2.37:g.167288898C>T	ENSP00000386796:p.Gly841Glu	NA		37	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897290	0.33535	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.84146	-1.81;-1.81	5.05	3.13	0.36017	Sodium ion transport-associated (1);	0.249150	0.28624	N	0.014686	T	0.78916	0.4359	L	0.49350	1.555	0.37374	D	0.911766	B	0.24258	0.1	B	0.26202	0.067	T	0.75841	-0.3175	10	0.35671	T	0.21	.	7.6994	0.28613	0.0:0.7388:0.1651:0.0961	.	841	Q01118	SCN7A_HUMAN	E	841	ENSP00000386796:G841E;ENSP00000413699:G841E	ENSP00000259060:G841E	G	-	2	0	SCN7A	166997144	0.071000	0.21146	1.000000	0.80357	0.946000	0.59487	0.996000	0.29719	1.328000	0.45358	0.561000	0.74099	GGA	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333745.1		-	ENST00000409855.1	Missense_Mutation	SNP	2 : 167288898 - 167288898 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	452	114
SYT3	84258	broad.mit.edu	37	19	51133064	51133064	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51133064G>A	ENST00000338916.4	-	3	1672	c.1039C>T	c.(1039-1041)Cgc>Tgc	p.R347C	SYT3_ENST00000593901.1_Missense_Mutation_p.R347C|SYT3_ENST00000600079.1_Missense_Mutation_p.R347C|SYT3_ENST00000544769.1_Missense_Mutation_p.R347C	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	347	C2 1.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TTTTTCTTGCGGTCAGGCAGC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	61	61			NA	NA	19		NA											NA				51133064		2203	4300	6503	SO:0001583	missense			AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023	84258	84258		Synaptotagmins	11511	protein-coding gene	gene with protein product		600327			NA	7749232	Standard	NM_032298	NM_032298	NA	Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.1039C>T	19.37:g.51133064G>A	ENSP00000340914:p.Arg347Cys	NA	Q8N5Z1|Q8N640	37	CCDS12798.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725553	0.68959	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	T;T	0.09073	3.02;3.02	4.67	4.67	0.58626	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	U	0.000011	T	0.24967	0.0606	L	0.60845	1.875	0.80722	D	1	D	0.89917	1.0	D	0.67548	0.952	T	0.00891	-1.1525	10	0.87932	D	0	.	16.7093	0.85381	0.0:0.0:1.0:0.0	.	347	Q9BQG1	SYT3_HUMAN	C	347	ENSP00000340914:R347C;ENSP00000438883:R347C	ENSP00000340914:R347C	R	-	1	0	SYT3	55824876	1.000000	0.71417	0.998000	0.56505	0.783000	0.44284	2.641000	0.46587	2.301000	0.77427	0.655000	0.94253	CGC	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464910.1		-	ENST00000338916.4	Missense_Mutation	SNP	19 : 51133064 - 51133064 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	524	107
IQCB1	9657	broad.mit.edu	37	3	121509063	121509063	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121509063C>A	ENST00000310864.6	-	11	1201		c.e11-1		IQCB1_ENST00000349820.6_Splice_Site	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	NA					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TCGTTTGGATCTGTGATGGAA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													195	184	188			NA	NA	3		NA											NA				121509063		2203	4300	6503	SO:0001630	splice_region_variant			D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226	9657	9657			28949	protein-coding gene	gene with protein product	nephrocystin-5	609237	IQ calmodulin-binding motif containing 1		NA	15723066	Standard	NM_014642	NM_001023571	NA	Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.987-1G>T	3.37:g.121509063C>A		NA	Q5DKQ7|Q8NI79|Q9BS08	37	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667687	0.47677	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0225	0.64565	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IQCB1	122991753	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	3.337000	0.52120	2.757000	0.94681	0.650000	0.86243	.	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250573.1	Intron	-	ENST00000310864.6	Splice_Site	SNP	3 : 121509063 - 121509063 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	912	162
NDOR1	27158	broad.mit.edu	37	9	140109118	140109118	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140109118C>A	ENST00000371521.4	+	7	902	c.819C>A	c.(817-819)ctC>ctA	p.L273L	NDOR1_ENST00000344894.5_Silent_p.L273L|NDOR1_ENST00000458322.2_Silent_p.L273L|NDOR1_ENST00000427047.2_Silent_p.L239L	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	273	FAD-binding FR-type.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CTGACCAGCTCTTCATGCTGC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	34	34			NA	NA	9		NA											NA				140109118		2203	4299	6502	SO:0001819	synonymous_variant			BC015735	CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1	9q34.3	2008-02-05			ENSG00000188566	ENSG00000188566	27158	27158			29838	protein-coding gene	gene with protein product	NADPH dependent FMN and FAD containing oxidoreductase	606073			NA	10625700, 12631275	Standard	NM_014434	XM_005266066	NA	Approved	NR1, bA350O14.9	uc004clx.3	Q9UHB4	OTTHUMG00000020986	ENST00000371521.4:c.819C>A	9.37:g.140109118C>A		NA	Q5VSG4|Q86US9|Q96BC6	37	CCDS48061.1																																																																																			NDOR1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055326.2		+	ENST00000371521.4	Silent	SNP	9 : 140109118 - 140109118 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	355	69
G2E3	55632	broad.mit.edu	37	14	31085649	31085649	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31085649C>T	ENST00000206595.6	+	15	2184	c.2030C>T	c.(2029-2031)aCa>aTa	p.T677I	G2E3_ENST00000438909.2_Missense_Mutation_p.T631I|G2E3_ENST00000553504.1_Missense_Mutation_p.T707I	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	677	HECT.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						ATCACCAATACATATAAAGAG	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	57	58			NA	NA	14		NA											NA				31085649		2202	4300	6502	SO:0001583	missense			AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140	55632	55632		Zinc fingers, PHD-type	20338	protein-coding gene	gene with protein product	PHD finger protein 7B	611299	KIAA1333	KIAA1333	NA	18511420, 17239372	Standard	NM_017769	NM_017769	NA	Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.2030C>T	14.37:g.31085649C>T	ENSP00000206595:p.Thr677Ile	NA	Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	37	CCDS9638.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961191	0.74016	.	.	ENSG00000092140	ENST00000206595;ENST00000438909;ENST00000553504	T;T;T	0.51325	0.71;0.71;0.71	5.8	5.8	0.92144	HECT (3);	0.207572	0.50627	D	0.000104	T	0.67748	0.2926	M	0.69823	2.125	0.41583	D	0.988754	D;D	0.76494	0.999;0.999	D;D	0.75020	0.985;0.974	T	0.70400	-0.4882	10	0.87932	D	0	-14.5557	15.5232	0.75881	0.0:0.8624:0.1376:0.0	.	189;677	Q49AD9;Q7L622	.;G2E3_HUMAN	I	677;631;707	ENSP00000206595:T677I;ENSP00000391068:T631I;ENSP00000451653:T707I	ENSP00000206595:T677I	T	+	2	0	G2E3	30155400	0.070000	0.21116	0.997000	0.53966	0.850000	0.48378	2.887000	0.48586	2.736000	0.93811	0.591000	0.81541	ACA	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276613.2		+	ENST00000206595.6	Missense_Mutation	SNP	14 : 31085649 - 31085649 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	196	31
NPHP4	261734	broad.mit.edu	37	1	6046288	6046288	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6046288G>A	ENST00000378156.4	-	2	327	c.62C>T	c.(61-63)gCg>gTg	p.A21V	NPHP4_ENST00000478423.2_Intron	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	21					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCTGGCGCGCTCTCTGTGG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	70	68			NA	NA	1		NA											NA				6046288		2048	4186	6234	SO:0001583	missense			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697	261734	261734			19104	protein-coding gene	gene with protein product	nephroretinin, nephrocystin-4, POC10 centriolar protein homolog (Chlamydomonas)	607215			NA	11920287, 12205563	Standard		XR_244787	NA	Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.62C>T	1.37:g.6046288G>A	ENSP00000367398:p.Ala21Val	NA		37	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667150	0.47677	.	.	ENSG00000131697	ENST00000378156	D	0.86865	-2.18	5.71	2.58	0.30949	.	0.521925	0.18213	N	0.148132	D	0.85864	0.5796	L	0.31664	0.95	0.24460	N	0.994448	D	0.76494	0.999	P	0.59357	0.856	T	0.76621	-0.2892	10	0.28530	T	0.3	.	10.9578	0.47368	0.0895:0.1727:0.7378:0.0	.	21	O75161	NPHP4_HUMAN	V	21	ENSP00000367398:A21V	ENSP00000367398:A21V	A	-	2	0	NPHP4	5968875	0.001000	0.12720	0.914000	0.36105	0.339000	0.28857	-0.158000	0.10070	0.733000	0.32492	0.655000	0.94253	GCG	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000001715.2		-	ENST00000378156.4	Missense_Mutation	SNP	1 : 6046288 - 6046288 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	117	9
FAM83C	128876	broad.mit.edu	37	20	33879849	33879849	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33879849C>T	ENST00000374408.3	-	1	355	c.259G>A	c.(259-261)Ggg>Agg	p.G87R		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	87										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TCAGGGCCCCCGCGCACATGG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	39	38			NA	NA	20		NA											NA				33879849		2203	4299	6502	SO:0001583	missense			AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998	128876	128876			16121	protein-coding gene	gene with protein product			chromosome 20 open reading frame 128	C20orf128	NA		Standard		NM_178468	NA	Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.259G>A	20.37:g.33879849C>T	ENSP00000363529:p.Gly87Arg	NA	Q14D67|Q5JWN6|Q8N276	37	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.315752	0.23908	.	.	ENSG00000125998	ENST00000374408	T	0.10477	2.87	5.38	2.36	0.29203	.	0.421653	0.25250	N	0.032033	T	0.08935	0.0221	L	0.43152	1.355	0.09310	N	0.999992	B	0.23185	0.081	B	0.20384	0.029	T	0.35871	-0.9771	10	0.17369	T	0.5	-21.0526	10.2058	0.43112	0.0:0.7813:0.0:0.2187	.	87	Q9BQN1	FA83C_HUMAN	R	87	ENSP00000363529:G87R	ENSP00000363529:G87R	G	-	1	0	FAM83C	33343263	0.001000	0.12720	0.001000	0.08648	0.350000	0.29205	1.119000	0.31258	0.341000	0.23771	0.462000	0.41574	GGG	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078854.3		-	ENST00000374408.3	Missense_Mutation	SNP	20 : 33879849 - 33879849 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	13
KRT20	54474	broad.mit.edu	37	17	39038846	39038846	+	Missense_Mutation	SNP	C	C	T	rs139752425	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39038846C>T	ENST00000167588.3	-	2	492	c.451G>A	c.(451-453)Gct>Act	p.A151T		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	151	Coil 1B.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				TCCTCAGCAGCCAGTTTAGCA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	112	116			NA	NA	17		NA											NA				39038846		2203	4300	6503	SO:0001583	missense			BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431	54474	54474		-, Intermediate filaments type I, keratins (acidic)	20412	protein-coding gene	gene with protein product		608218			NA	8359595, 12515621, 16831889	Standard		NM_019010	NA	Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.451G>A	17.37:g.39038846C>T	ENSP00000167588:p.Ala151Thr	NA	B2R6W7	37	CCDS11379.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812948	0.70912	.	.	ENSG00000171431	ENST00000167588	D	0.89270	-2.49	5.33	2.25	0.28309	Filament (1);	0.101974	0.42682	D	0.000662	D	0.87374	0.6161	L	0.59912	1.85	0.38839	D	0.956026	P	0.34934	0.476	B	0.42138	0.377	D	0.86327	0.1696	10	0.42905	T	0.14	.	10.4064	0.44260	0.0:0.7883:0.0:0.2117	.	151	P35900	K1C20_HUMAN	T	151	ENSP00000167588:A151T	ENSP00000167588:A151T	A	-	1	0	KRT20	36292372	1.000000	0.71417	0.992000	0.48379	0.967000	0.64934	3.484000	0.53201	1.245000	0.43885	0.557000	0.71058	GCT	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257202.2		-	ENST00000167588.3	Missense_Mutation	SNP	17 : 39038846 - 39038846 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	547	102
SMPX	23676	broad.mit.edu	37	X	21755811	21755811	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:21755811A>G	ENST00000379494.3	-	4	370	c.137T>C	c.(136-138)gTt>gCt	p.V46A	SMPX_ENST00000494525.1_5'UTR	NM_014332.2	NP_055147.1	Q9UHP9	SMPX_HUMAN	small muscle protein, X-linked	46					striated muscle contraction					breast(1)|endometrium(1)	2						GGTGGGAGGAACACCCTGAAG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	74	77			NA	NA	X		NA											NA				21755811		2203	4300	6503	SO:0001583	missense				CCDS14200.1	Xp22.2-p22.1	2014-01-28			ENSG00000091482	ENSG00000091482	23676	23676			11122	protein-coding gene	gene with protein product		300226	deafness, X-linked 6, sensorineural	DFN6	NA	21893181	Standard	NM_014332	NM_014332	NA	Approved	DFNX4	uc004daa.3	Q9UHP9	OTTHUMG00000021235	ENST00000379494.3:c.137T>C	X.37:g.21755811A>G	ENSP00000368808:p.Val46Ala	NA	B1AWX2	37	CCDS14200.1	.	.	.	.	.	.	.	.	.	.	A	5.414	0.261572	0.10239	.	.	ENSG00000091482	ENST00000379494	.	.	.	6.11	0.0316	0.14171	.	0.883982	0.10193	N	0.704369	T	0.21509	0.0518	.	.	.	0.25343	N	0.988934	B	0.02656	0.0	B	0.01281	0.0	T	0.27054	-1.0085	8	0.09338	T	0.73	-3.5021	10.4529	0.44533	0.5545:0.0:0.4455:0.0	.	46	Q9UHP9	SMPX_HUMAN	A	46	.	ENSP00000368808:V46A	V	-	2	0	SMPX	21665732	0.000000	0.05858	0.992000	0.48379	0.887000	0.51463	-1.951000	0.01529	0.005000	0.14708	-0.287000	0.09952	GTT	SMPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056023.1		-	ENST00000379494.3	Missense_Mutation	SNP	X : 21755811 - 21755811 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	252	23
KCTD12	115207	broad.mit.edu	37	13	77459400	77459400	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77459400C>T	ENST00000377474.2	-	1	1125	c.884G>A	c.(883-885)aGc>aAc	p.S295N	KCTD12_ENST00000317765.2_Missense_Mutation_p.S295N	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN	potassium channel tetramerization domain containing 12	295						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		GCCCGTGGAGCTGCACGCCAC	0.622		NA									OREG0022449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	46	50			NA	NA	13		NA											NA				77459400		2203	4300	6503	SO:0001583	missense			AF359381	CCDS9455.1	13q21	2013-06-20	2013-06-20	2003-11-26	ENSG00000178695	ENSG00000178695	115207	115207			14678	protein-coding gene	gene with protein product	predominantly fetal expressed T1 domain	610521	chromosome 13 open reading frame 2, potassium channel tetramerisation domain containing 12	C13orf2	NA	15357420	Standard	NM_138444	NM_138444	NA	Approved	KIAA1778, PFET1	uc010aeu.1	Q96CX2	OTTHUMG00000017096	ENST00000377474.2:c.884G>A	13.37:g.77459400C>T	ENSP00000366694:p.Ser295Asn	1175		37	CCDS9455.1	.	.	.	.	.	.	.	.	.	.	C	5.201	0.222536	0.09863	.	.	ENSG00000178695	ENST00000377474;ENST00000317765	T;T	0.39997	1.05;1.05	4.84	4.84	0.62591	.	0.117523	0.85682	N	0.000000	T	0.23054	0.0557	N	0.16098	0.37	0.44719	D	0.997712	B	0.18166	0.026	B	0.15052	0.012	T	0.07986	-1.0744	10	0.02654	T	1	.	14.0984	0.65039	0.0:0.802:0.198:0.0	.	295	Q96CX2	KCD12_HUMAN	N	295	ENSP00000366694:S295N;ENSP00000317141:S295N	ENSP00000317141:S295N	S	-	2	0	KCTD12	76357401	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.987000	0.29603	2.399000	0.81585	0.462000	0.41574	AGC	KCTD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045309.2		-	ENST00000377474.2	Missense_Mutation	SNP	13 : 77459400 - 77459400 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	159	31
CHD3	1107	broad.mit.edu	37	17	7810694	7810694	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7810694A>G	ENST00000380358.4	+	32	4990	c.4989A>G	c.(4987-4989)ccA>ccG	p.P1663P	CHD3_ENST00000330494.7_Silent_p.P1604P|CHD3_ENST00000358181.4_Silent_p.P1604P	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1604	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GCCCAGCCCCATCACTTGGGG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	40	39			NA	NA	17		NA											NA				7810694		2203	4300	6503	SO:0001819	synonymous_variant			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004	1107	1107		Zinc fingers, PHD-type	1918	protein-coding gene	gene with protein product		602120			NA	9326634, 7560064	Standard	NM_001005273	NM_001005271	NA	Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000380358.4:c.4989A>G	17.37:g.7810694A>G		NA	D3DTQ9|Q9Y4I0	37	CCDS32553.2																																																																																			CHD3-003	NOVEL	not_organism_supported|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318052.1		+	ENST00000380358.4	Silent	SNP	17 : 7810694 - 7810694 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	254	48
SYNCRIP	10492	broad.mit.edu	37	6	86324728	86324728	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:86324728C>A	ENST00000355238.6	-	11	1824	c.1618G>T	c.(1618-1620)Gga>Tga	p.G540*	RP11-321N4.5_ENST00000503906.1_Missense_Mutation_p.E75D|SYNCRIP_ENST00000369622.3_Nonsense_Mutation_p.G540*	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	540	8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.|Interaction with SMN.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		TGGGCACCTCCTCTCGCACCT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	145	142			NA	NA	6		NA											NA				86324728		2203	4300	6503	SO:0001587	stop_gained			AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316	10492	10492		RNA binding motif (RRM) containing	16918	protein-coding gene	gene with protein product	heterogeneous nuclear ribonucleoprotein Q				NA	9847309, 11352648	Standard	NM_006372	NM_006372	NA	Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000355238.6:c.1618G>T	6.37:g.86324728C>A	ENSP00000347380:p.Gly540*	NA	E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	37	CCDS55041.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.433634	0.62955	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	.	.	.	5.39	5.39	0.77823	.	0.103747	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	19.1481	0.93476	0.0:1.0:0.0:0.0	.	.	.	.	X	540	.	ENSP00000347380:G540X	G	-	1	0	SYNCRIP	86381447	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.676000	0.84012	2.521000	0.84997	0.563000	0.77884	GGA	SYNCRIP-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041397.1		-	ENST00000355238.6	Nonsense_Mutation	SNP	6 : 86324728 - 86324728 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1155	237
DENND3	22898	broad.mit.edu	37	8	142176355	142176355	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142176355G>A	ENST00000519811.1	+	12	1690	c.1620G>A	c.(1618-1620)tcG>tcA	p.S540S	DENND3_ENST00000424248.1_Silent_p.S408S|DENND3_ENST00000262585.2_Silent_p.S460S			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	460										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GGAAGTCCTCGCACCTGCATG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	134	131			NA	NA	8		NA											NA				142176355		2203	4300	6503	SO:0001819	synonymous_variant			AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339	22898	22898		DENN/MADD domain containing, WD repeat domain containing	29134	protein-coding gene	gene with protein product					NA	10048485	Standard	NM_014957	NM_014957	NA	Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000519811.1:c.1620G>A	8.37:g.142176355G>A		NA	B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	37		.	.	.	.	.	.	.	.	.	.	G	4.540	0.100272	0.08731	.	.	ENSG00000105339	ENST00000518668	.	.	.	5.12	-5.67	0.02444	.	.	.	.	.	T	0.17365	0.0417	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24728	-1.0152	4	.	.	.	-11.8227	2.3262	0.04223	0.4485:0.2889:0.1156:0.147	.	.	.	.	T	465	.	.	A	+	1	0	DENND3	142245537	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.629000	0.05508	-1.175000	0.02751	-1.020000	0.02445	GCA	DENND3-001	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000380189.3		+	ENST00000519811.1	Silent	SNP	8 : 142176355 - 142176355 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1021	164
USP2	9099	broad.mit.edu	37	11	119243427	119243427	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119243427C>A	ENST00000260187.2	-	2	1058	c.764G>T	c.(763-765)aGa>aTa	p.R255I	RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	255					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		CATGCCGTCTCTTCCCGGGGA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	35	33			NA	NA	11		NA											NA				119243427		2199	4295	6494	SO:0001583	missense			AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672	9099	9099		Ubiquitin-specific peptidases	12618	protein-coding gene	gene with protein product		604725	ubiquitin specific protease 2		NA	12838346	Standard	NM_171997	NM_004205	NA	Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.764G>T	11.37:g.119243427C>A	ENSP00000260187:p.Arg255Ile	NA	B0YJB8|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	37	CCDS8422.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417086	0.42918	.	.	ENSG00000036672	ENST00000260187;ENST00000530918	T	0.21734	1.99	5.37	4.46	0.54185	.	0.849233	0.10346	N	0.685653	T	0.28566	0.0707	M	0.73430	2.235	0.80722	D	1	B	0.26258	0.145	B	0.31686	0.134	T	0.06285	-1.0835	10	0.52906	T	0.07	-1.6389	7.9324	0.29909	0.0:0.7531:0.1604:0.0865	.	255	O75604	UBP2_HUMAN	I	255;225	ENSP00000260187:R255I	ENSP00000260187:R255I	R	-	2	0	USP2	118748637	0.995000	0.38212	1.000000	0.80357	0.923000	0.55619	1.263000	0.33004	1.259000	0.44117	-0.137000	0.14449	AGA	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388361.2		-	ENST00000260187.2	Missense_Mutation	SNP	11 : 119243427 - 119243427 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	335	27
ADRA2C	152	broad.mit.edu	37	4	3768871	3768871	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3768871G>A	ENST00000330055.5	+	1	747	c.538G>A	c.(538-540)Gcc>Acc	p.A180T	ADRA2C_ENST00000509482.1_Missense_Mutation_p.A180T	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	180					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GCTCATCTCGGCCGTCATCTC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(12;454 628 4517 14479)							NA				0													27	28	27			NA	NA	4		NA											NA				3768871		2199	4296	6495	SO:0001583	missense			AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160	152	152		GPCR / Class A : Adrenoceptors : alpha	283	protein-coding gene	gene with protein product		104250	adrenergic, alpha-2C-, receptor	ADRA2L2, ADRA2RL2	NA	1849485	Standard	NM_000683	NM_000683	NA	Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.538G>A	4.37:g.3768871G>A	ENSP00000386069:p.Ala180Thr	NA	P35369|Q9HB49	37	CCDS47004.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444253	0.83993	.	.	ENSG00000184160	ENST00000509482;ENST00000330055	T;T	0.37584	1.19;1.19	3.37	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.61489	0.2351	M	0.83223	2.63	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.981	T	0.69771	-0.5055	9	0.87932	D	0	.	13.8998	0.63797	0.0:0.0:1.0:0.0	.	180;180	D6RGL0;P18825	.;ADA2C_HUMAN	T	180	ENSP00000426268:A180T;ENSP00000386069:A180T	ENSP00000386069:A180T	A	+	1	0	ADRA2C	3738669	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.710000	0.74670	1.706000	0.51276	0.561000	0.74099	GCC	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357607.1		+	ENST00000330055.5	Missense_Mutation	SNP	4 : 3768871 - 3768871 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	172	34
TNFRSF19	55504	broad.mit.edu	37	13	24243246	24243246	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24243246C>T	ENST00000382258.4	+	9	1459	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*	TNFRSF19_ENST00000382263.3_Intron|TNFRSF19_ENST00000403372.2_Intron|TNFRSF19_ENST00000248484.4_Intron	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	419					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)		GGTAAGGCAGCGACTGGGTTC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,stop/ARG,	0,4406		0,0,2203	42	38	39		,,1255,	-7.6	0	13		39	2,8598	2.2+/-6.3	0,2,4298	yes	intron,intron,stop-gained,intron	TNFRSF19	NM_001204458.1,NM_001204459.1,NM_018647.3,NM_148957.3	,,,	0,2,6501	TT,TC,CC	NA	0.0233,0.0,0.0154	,,,	,,419/424,	24243246	2,13004	2203	4300	6503	SO:0001587	stop_gained			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	ENST00000382258.4:c.1255C>T	13.37:g.24243246C>T	ENSP00000371693:p.Arg419*	NA	B1AM40|B1AM41|Q9BXZ9|Q9BY00|Q9NZV2	37	CCDS9302.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.089515	0.55968	0.0	2.33E-4	ENSG00000127863	ENST00000382258	.	.	.	4.87	-7.61	0.01299	.	2.738200	0.02019	N	0.047642	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8221	11.7108	0.51625	0.0:0.631:0.1263:0.2426	.	.	.	.	X	419	.	.	R	+	1	2	TNFRSF19	23141246	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.506000	0.02271	-1.276000	0.02414	-0.302000	0.09304	CGA	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044156.2		+	ENST00000382258.4	Nonsense_Mutation	SNP	13 : 24243246 - 24243246 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	204	24
TRPS1	7227	broad.mit.edu	37	8	116617112	116617112	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:116617112C>T	ENST00000395715.3	-	4	1661	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	TRPS1_ENST00000220888.5_Missense_Mutation_p.E349K|TRPS1_ENST00000520276.1_Missense_Mutation_p.E353K|TRPS1_ENST00000519076.1_Missense_Mutation_p.E303K|TRPS1_ENST00000519674.1_Missense_Mutation_p.E349K	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	349					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E349K(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGTTCTAATTCGGTGGATGAG	0.408		NA							Langer-Giedion syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											111	107	108			NA	NA	8		NA											NA				116617112		1870	4095	5965	SO:0001583	missense	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447	7227	7227		GATA zinc finger domain containing, Zinc fingers, C2H2-type	12340	protein-coding gene	gene with protein product		604386			NA	8530105, 10615131, 10647898	Standard	NM_014112	NM_001282903	NA	Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000395715.3:c.1084G>A	8.37:g.116617112C>T	ENSP00000379065:p.Glu362Lys	NA	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	37	CCDS6318.2	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427229	0.83667	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	T;T;T;T;T	0.06768	3.26;3.26;3.26;3.26;3.26	5.69	5.69	0.88448	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.15478	0.0373	N	0.14661	0.345	0.58432	D	0.999997	D;D;D	0.76494	0.999;0.998;0.999	P;P;P	0.61201	0.885;0.771;0.885	T	0.05784	-1.0864	10	0.87932	D	0	.	20.181	0.98201	0.0:1.0:0.0:0.0	.	353;349;362	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	K	362;349;303;353;349	ENSP00000379065:E362K;ENSP00000220888:E349K;ENSP00000428910:E303K;ENSP00000428680:E353K;ENSP00000429174:E349K	ENSP00000220888:E349K	E	-	1	0	TRPS1	116686287	1.000000	0.71417	0.999000	0.59377	0.577000	0.36160	7.776000	0.85560	2.840000	0.97914	0.655000	0.94253	GAA	TRPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286435.3		-	ENST00000395715.3	Missense_Mutation	SNP	8 : 116617112 - 116617112 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	495	87
HMGB2	3148	broad.mit.edu	37	4	174254339	174254339	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:174254339C>T	ENST00000296503.5	-	3	1050	c.177G>A	c.(175-177)aaG>aaA	p.K59K	HMGB2_ENST00000438704.2_Silent_p.K59K|HMGB2_ENST00000446922.2_Silent_p.K59K			P26583	HMGB2_HUMAN	high mobility group box 2	59					base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TATCTTCAAACTTCGACTTCT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	127	126			NA	NA	4		NA											NA				174254339		2203	4300	6503	SO:0001819	synonymous_variant				CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104	3148	3148		High-mobility group / Canonical	5000	protein-coding gene	gene with protein product		163906	high-mobility group (nonhistone chromosomal) protein 2, high-mobility group box 2	HMG2	NA	1754403	Standard	NM_001130688	NM_002129	NA	Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.177G>A	4.37:g.174254339C>T		NA	B2R4K8|D3DP37|Q5U072	37	CCDS3816.1																																																																																			HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362362.1		-	ENST00000296503.5	Silent	SNP	4 : 174254339 - 174254339 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	594	53
CDH5	1003	broad.mit.edu	37	16	66431887	66431887	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66431887A>G	ENST00000539168.1	+	0	514				CDH5_ENST00000341529.3_Missense_Mutation_p.T455A			P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	NA					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CCCTGCAGGAACCCCCACAGG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	100	100			NA	NA	16		NA											NA				66431887		2201	4300	6501	SO:0001623	5_prime_UTR_variant			X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776	1003	1003		CD molecules, Cadherins / Major cadherins	1764	protein-coding gene	gene with protein product	VE-cadherin	601120	cadherin 5, type 2, VE-cadherin (vascular epithelium)		NA	2059658	Standard	NM_001795	NM_001795	NA	Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000539168.1:c.-321A>G	16.37:g.66431887A>G		NA		37		.	.	.	.	.	.	.	.	.	.	A	5.119	0.207528	0.09704	.	.	ENSG00000179776	ENST00000341529;ENST00000539262	T	0.49720	0.77	4.4	0.705	0.18127	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.20170	0.0485	N	0.08118	0	0.22389	N	0.999149	B	0.11235	0.004	B	0.17979	0.02	T	0.21314	-1.0249	9	0.15066	T	0.55	.	0.9773	0.01428	0.3435:0.2616:0.0919:0.303	.	455	P33151	CADH5_HUMAN	A	455;196	ENSP00000344115:T455A	ENSP00000344115:T455A	T	+	1	0	CDH5	64989388	0.001000	0.12720	0.013000	0.15412	0.396000	0.30629	1.223000	0.32527	-0.077000	0.12752	0.459000	0.35465	ACC	CDH5-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000421001.2		+	ENST00000539168.1	5'UTR	SNP	16 : 66431887 - 66431887 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	473	79
ZZEF1	23140	broad.mit.edu	37	17	3968078	3968078	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3968078G>A	ENST00000381638.2	-	29	4419	c.4295C>T	c.(4294-4296)cCc>cTc	p.P1432L		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1432							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TATGCCCGTGGGCAGAAATTT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	59	57			NA	NA	17		NA											NA				3968078		2199	4291	6490	SO:0001583	missense			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755	23140	23140		Zinc fingers, ZZ-type, EF-hand domain containing	29027	protein-coding gene	gene with protein product			zinc finger, ZZ-type with EF hand domain 1		NA	9455477	Standard	NM_015113	XM_005256560	NA	Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.4295C>T	17.37:g.3968078G>A	ENSP00000371051:p.Pro1432Leu	NA	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384916	0.82792	.	.	ENSG00000074755	ENST00000381638	T	0.25579	1.79	5.53	5.53	0.82687	.	0.183743	0.47852	D	0.000205	T	0.47691	0.1459	M	0.62723	1.935	0.80722	D	1	D;P	0.57257	0.979;0.905	P;B	0.59643	0.861;0.403	T	0.44682	-0.9312	10	0.87932	D	0	-10.902	19.4588	0.94908	0.0:0.0:1.0:0.0	.	1432;1432	O43149-2;O43149	.;ZZEF1_HUMAN	L	1432	ENSP00000371051:P1432L	ENSP00000371051:P1432L	P	-	2	0	ZZEF1	3914827	1.000000	0.71417	0.965000	0.40720	0.801000	0.45260	8.049000	0.89443	2.607000	0.88179	0.591000	0.81541	CCC	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207480.1		-	ENST00000381638.2	Missense_Mutation	SNP	17 : 3968078 - 3968078 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	711	146
MCEE	84693	broad.mit.edu	37	2	71351596	71351596	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71351596C>A	ENST00000244217.5	-	2	135	c.118G>T	c.(118-120)Ggt>Tgt	p.G40C		NM_032601.3	NP_115990.3	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase	40					fatty acid beta-oxidation|L-methylmalonyl-CoA metabolic process	mitochondrial matrix	methylmalonyl-CoA epimerase activity			kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						CACACAGAACCTGTCACTTGA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	124	121			NA	NA	2		NA											NA				71351596		2203	4300	6503	SO:0001583	missense			AF364547	CCDS1915.1	2p13.3	2011-05-12			ENSG00000124370	ENSG00000124370	84693	84693	5.1.99.1		16732	protein-coding gene	gene with protein product	glyoxalase domain containing 2	608419			NA	16697227, 16752391, 16843692	Standard	NM_032601	NM_032601	NA	Approved	GLOD2	uc002shs.2	Q96PE7	OTTHUMG00000129709	ENST00000244217.5:c.118G>T	2.37:g.71351596C>A	ENSP00000244217:p.Gly40Cys	NA	Q53TP1|Q8WW63	37	CCDS1915.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854643	0.51376	.	.	ENSG00000124370	ENST00000244217	T	0.65178	-0.14	5.33	2.44	0.29823	.	0.727471	0.13510	N	0.382552	T	0.65312	0.2679	M	0.65975	2.015	0.09310	N	1	D	0.63046	0.992	P	0.52856	0.711	T	0.56050	-0.8043	10	0.66056	D	0.02	-25.9894	4.5436	0.12071	0.0:0.5656:0.1631:0.2713	.	40	Q96PE7	MCEE_HUMAN	C	40	ENSP00000244217:G40C	ENSP00000244217:G40C	G	-	1	0	MCEE	71205104	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.288000	0.08377	0.284000	0.22305	0.650000	0.86243	GGT	MCEE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251917.3		-	ENST00000244217.5	Missense_Mutation	SNP	2 : 71351596 - 71351596 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1056	279
RNF13	11342	broad.mit.edu	37	3	149589892	149589892	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:149589892G>A	ENST00000344229.3	+	5	974	c.272G>A	c.(271-273)gGc>gAc	p.G91D	RNF13_ENST00000392894.3_Missense_Mutation_p.G91D|RNF13_ENST00000361785.6_5'UTR	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	91	PA.				protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AATTCATCTGGCACTTTCATC	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	80	81			NA	NA	3		NA											NA				149589892		2203	4300	6503	SO:0001583	missense			AF037204	CCDS3146.1	3q25.1	2013-01-09			ENSG00000082996	ENSG00000082996	11342	11342		RING-type (C3HC4) zinc fingers	10057	protein-coding gene	gene with protein product		609247			NA		Standard	NM_183384	NM_183381	NA	Approved	RZF	uc003exp.4	O43567	OTTHUMG00000150338	ENST00000344229.3:c.272G>A	3.37:g.149589892G>A	ENSP00000341361:p.Gly91Asp	NA	Q6IBJ9	37	CCDS3146.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.699002	0.30142	.	.	ENSG00000082996	ENST00000392894;ENST00000344229;ENST00000543506;ENST00000468648;ENST00000459632;ENST00000466795;ENST00000490631	T;T;T;T;T;T	0.14391	3.33;3.33;2.51;3.33;3.33;3.33	5.28	5.28	0.74379	Protease-associated domain, PA (1);	0.257441	0.43919	D	0.000519	T	0.13329	0.0323	L	0.56769	1.78	0.44890	D	0.997905	B	0.09022	0.002	B	0.15870	0.014	T	0.07501	-1.0769	10	0.13108	T	0.6	-13.7995	9.7831	0.40660	0.0906:0.0:0.9094:0.0	.	91	O43567	RNF13_HUMAN	D	91	ENSP00000376628:G91D;ENSP00000341361:G91D;ENSP00000420067:G91D;ENSP00000419069:G91D;ENSP00000417655:G91D;ENSP00000417294:G91D	ENSP00000341361:G91D	G	+	2	0	RNF13	151072582	0.033000	0.19621	0.267000	0.24556	0.845000	0.48019	1.079000	0.30766	2.756000	0.94617	0.655000	0.94253	GGC	RNF13-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356876.1		+	ENST00000344229.3	Missense_Mutation	SNP	3 : 149589892 - 149589892 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	220	38
CALHM2	51063	broad.mit.edu	37	10	105206962	105206962	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105206962C>T	ENST00000260743.5	-	4	1442	c.919G>A	c.(919-921)Gca>Aca	p.A307T	CALHM2_ENST00000369788.3_Missense_Mutation_p.A307T	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	307						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CCGTTGCCTGCCAGACCCTGG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	49	50			NA	NA	10		NA											NA				105206962		2203	4300	6503	SO:0001583	missense			BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172	51063	51063			23493	protein-coding gene	gene with protein product		612235	family with sequence similarity 26, member B	FAM26B	NA	18585350	Standard	NM_015916	NM_015916	NA	Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.919G>A	10.37:g.105206962C>T	ENSP00000260743:p.Ala307Thr	NA	D3DR94|O95893|Q6ZUV9	37	CCDS7549.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723844	0.48728	.	.	ENSG00000138172	ENST00000369788;ENST00000260743	T;T	0.17054	2.3;2.3	5.52	-1.14	0.09741	.	1.268130	0.05081	N	0.483424	T	0.09291	0.0229	N	0.14661	0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.36625	-0.9740	10	0.14656	T	0.56	0.0966	7.019	0.24904	0.0:0.3498:0.1218:0.5285	.	307	Q9HA72	CAHM2_HUMAN	T	307	ENSP00000358803:A307T;ENSP00000260743:A307T	ENSP00000260743:A307T	A	-	1	0	CALHM2	105196952	0.000000	0.05858	0.018000	0.16275	0.710000	0.40934	-0.403000	0.07214	-0.220000	0.09988	0.561000	0.74099	GCA	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050159.1		-	ENST00000260743.5	Missense_Mutation	SNP	10 : 105206962 - 105206962 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	86
SLC25A39	51629	broad.mit.edu	37	17	42398522	42398522	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42398522G>T	ENST00000225308.8	-	8	745	c.571C>A	c.(571-573)Ctg>Atg	p.L191M	SLC25A39_ENST00000586016.1_Missense_Mutation_p.L67M|SLC25A39_ENST00000377095.5_Missense_Mutation_p.L199M|SLC25A39_ENST00000590194.1_Missense_Mutation_p.L191M|SLC25A39_ENST00000537904.2_Missense_Mutation_p.L176M	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	199					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CAGGCACCCAGCTCCCGGTAC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	35	36			NA	NA	17		NA											NA				42398522		2203	4299	6502	SO:0001583	missense			BC096819	CCDS11482.1, CCDS45700.1	17q12	2013-05-22			ENSG00000013306	ENSG00000013306	51629	51629		Solute carriers	24279	protein-coding gene	gene with protein product		610820			NA	16949250	Standard	NM_016016	NM_001143780	NA	Approved	FLJ22407, CGI-69	uc002ign.2	Q9BZJ4	OTTHUMG00000132628	ENST00000225308.8:c.571C>A	17.37:g.42398522G>T	ENSP00000225308:p.Leu191Met	NA	A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379	37	CCDS11482.1	.	.	.	.	.	.	.	.	.	.	G	8.976	0.974157	0.18736	.	.	ENSG00000013306	ENST00000225308;ENST00000377095;ENST00000537904	T;T;T	0.80033	-1.33;-1.33;-1.33	5.31	1.23	0.21249	Mitochondrial carrier domain (2);	0.000000	0.64402	D	0.000003	T	0.79981	0.4540	L	0.40543	1.245	0.52501	D	0.999955	P;D;P	0.61697	0.767;0.99;0.88	P;D;B	0.63957	0.525;0.92;0.444	T	0.72921	-0.4145	10	0.21014	T	0.42	-23.3157	8.4608	0.32927	0.369:0.0:0.631:0.0	.	176;199;191	B4DFG5;Q9BZJ4;Q9BZJ4-2	.;S2539_HUMAN;.	M	191;199;176	ENSP00000225308:L191M;ENSP00000366299:L199M;ENSP00000444540:L176M	ENSP00000225308:L191M	L	-	1	2	SLC25A39	39754048	1.000000	0.71417	0.856000	0.33681	0.045000	0.14185	1.822000	0.39052	0.118000	0.18165	-0.137000	0.14449	CTG	SLC25A39-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255875.1		-	ENST00000225308.8	Missense_Mutation	SNP	17 : 42398522 - 42398522 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	216	16
GLRX3	10539	broad.mit.edu	37	10	131973336	131973336	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:131973336G>A	ENST00000368644.1	+	10	962	c.940G>A	c.(940-942)Gga>Aga	p.G314R	GLRX3_ENST00000331244.5_Missense_Mutation_p.G314R	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	314	Glutaredoxin 2.				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		GCTGGTGGGAGGATTGGATAT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	127	127			NA	NA	10		NA											NA				131973336		2203	4300	6503	SO:0001583	missense			AJ010841	CCDS7661.1	10q26	2009-05-29	2007-08-16	2007-08-16	ENSG00000108010	ENSG00000108010	10539	10539			15987	protein-coding gene	gene with protein product	glutaredoxin 4	612754	thioredoxin-like 2	TXNL2	NA	10636891, 11124703	Standard	NM_006541	NM_006541	NA	Approved	PICOT, bA500G10.4, GRX3, GLRX4, GRX4	uc001lkm.2	O76003	OTTHUMG00000019267	ENST00000368644.1:c.940G>A	10.37:g.131973336G>A	ENSP00000357633:p.Gly314Arg	NA	B3KMP7|B3KMQ5|D3DRG2|Q5JV01|Q96CE0|Q9P1B0|Q9P1B1	37	CCDS7661.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253560	0.80135	.	.	ENSG00000108010	ENST00000331244;ENST00000368644	T;T	0.29142	1.58;1.58	4.17	4.17	0.49024	Glutaredoxin (1);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.71837	0.3387	H	0.99143	4.445	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	D	0.85132	0.0975	10	0.87932	D	0	-15.7007	15.2207	0.73308	0.0:0.0:1.0:0.0	.	314	O76003	GLRX3_HUMAN	R	314	ENSP00000330836:G314R;ENSP00000357633:G314R	ENSP00000330836:G314R	G	+	1	0	GLRX3	131863326	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	8.721000	0.91446	2.171000	0.68590	0.561000	0.74099	GGA	GLRX3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051021.1		+	ENST00000368644.1	Missense_Mutation	SNP	10 : 131973336 - 131973336 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	257	34
C1QTNF1	114897	broad.mit.edu	37	17	77044003	77044003	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77044003G>A	ENST00000311661.4	+	3	758	c.433G>A	c.(433-435)Gac>Aac	p.D145N	C1QTNF1_ENST00000580474.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.D227N|C1QTNF1_ENST00000339142.2_Missense_Mutation_p.D227N|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.D145N|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.D237N|C1QTNF1_ENST00000582625.1_3'UTR	NM_198594.2	NP_940996.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	227	C1q.					collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			GCAGGTGGGCGACCGCAGCAT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	104	114			NA	NA	17		NA											NA				77044003		2203	4300	6503	SO:0001583	missense			AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918	114897	114897			14324	protein-coding gene	gene with protein product	G protein coupled receptor interacting protein	610365			NA	12409230	Standard	NM_030968	NM_198593	NA	Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000311661.4:c.433G>A	17.37:g.77044003G>A	ENSP00000311265:p.Asp145Asn	NA	Q96NF2|Q9GZR4	37	CCDS11762.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.331789	0.81801	.	.	ENSG00000173918	ENST00000339142;ENST00000311661;ENST00000354124;ENST00000392444;ENST00000392445	T;T;T	0.21734	1.99;1.99;1.99	5.21	5.21	0.72293	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.64402	D	0.000001	T	0.47488	0.1448	M	0.71920	2.185	0.80722	D	1	D;D;D	0.89917	0.977;0.977;1.0	P;P;D	0.74348	0.701;0.701;0.983	T	0.42632	-0.9440	10	0.49607	T	0.09	.	18.7566	0.91835	0.0:0.0:1.0:0.0	.	237;237;227	A8K7L9;Q6ZMH6;Q9BXJ1	.;.;C1QT1_HUMAN	N	227;145;237;227;237	ENSP00000340864:D227N;ENSP00000311265:D145N;ENSP00000343230:D237N	ENSP00000311265:D145N	D	+	1	0	C1QTNF1	74555598	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.787000	0.99055	2.430000	0.82344	0.561000	0.74099	GAC	C1QTNF1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437386.1		+	ENST00000311661.4	Missense_Mutation	SNP	17 : 77044003 - 77044003 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	381	68
NOV	4856	broad.mit.edu	37	8	120435115	120435115	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120435115G>A	ENST00000259526.3	+	5	1044	c.817G>A	c.(817-819)Gcc>Acc	p.A273T	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	nephroblastoma overexpressed	273	CTCK.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTCACTCAAAGCCATCCACCT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	77	77			NA	NA	8		NA											NA				120435115		2203	4300	6503	SO:0001583	missense			X96584	CCDS6328.1	8q24.12	2012-02-27	2012-02-27		ENSG00000136999	ENSG00000136999	4856	4856			7885	protein-coding gene	gene with protein product		164958	nephroblastoma overexpressed gene		NA	1334251	Standard	NM_002514	NM_002514	NA	Approved	IGFBP9, CCN3	uc003yoq.2	P48745	OTTHUMG00000164984	ENST00000259526.3:c.817G>A	8.37:g.120435115G>A	ENSP00000259526:p.Ala273Thr	NA	B2R5X7|Q6I9S3|Q96BY5|Q9UDE4	37	CCDS6328.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.322686	0.60634	.	.	ENSG00000136999	ENST00000259526	D	0.89343	-2.5	5.91	4.06	0.47325	Cystine knot (1);Cystine knot, C-terminal (2);	0.159685	0.56097	D	0.000033	D	0.91297	0.7256	M	0.78637	2.42	0.38106	D	0.937413	P	0.46859	0.885	P	0.51324	0.666	D	0.91883	0.5517	10	0.87932	D	0	-21.4507	10.9553	0.47354	0.0:0.1261:0.6124:0.2615	.	273	P48745	NOV_HUMAN	T	273	ENSP00000259526:A273T	ENSP00000259526:A273T	A	+	1	0	NOV	120504296	0.815000	0.29118	0.982000	0.44146	0.382000	0.30200	0.780000	0.26760	0.770000	0.33336	0.650000	0.86243	GCC	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381301.1		+	ENST00000259526.3	Missense_Mutation	SNP	8 : 120435115 - 120435115 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	655	108
PPP1R15B	84919	broad.mit.edu	37	1	204378920	204378920	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204378920T>G	ENST00000367188.4	-	1	1999	c.1620A>C	c.(1618-1620)gaA>gaC	p.E540D	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	540					regulation of translation			p.E540D(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			CCCAGTCATCTTCCTCCCCAG	0.458		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)											58	58	58			NA	NA	1		NA											NA				204378920		2203	4300	6503	SO:0001583	missense			AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615	84919	84919		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	14951	protein-coding gene	gene with protein product		613257	protein phosphatase 1, regulatory (inhibitor) subunit 15B		NA	11948623	Standard	NM_032833	XM_005245551	NA	Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.1620A>C	1.37:g.204378920T>G	ENSP00000356156:p.Glu540Asp	NA	Q53GQ4|Q658M2|Q6P156|Q96SN1	37	CCDS1445.1	.	.	.	.	.	.	.	.	.	.	T	14.71	2.615334	0.46631	.	.	ENSG00000158615	ENST00000367188;ENST00000543650	T	0.19394	2.15	5.38	-7.88	0.01178	Protein phosphatase 1, regulatory subunit 15A/B, C-terminal (1);	0.746215	0.13044	N	0.418281	T	0.08758	0.0217	L	0.28014	0.82	0.36487	D	0.868218	B	0.20550	0.046	B	0.22601	0.04	T	0.17077	-1.0381	10	0.28530	T	0.3	-6.382	2.3305	0.04234	0.1917:0.3548:0.2793:0.1742	.	540	Q5SWA1	PR15B_HUMAN	D	540;450	ENSP00000356156:E540D	ENSP00000356156:E540D	E	-	3	2	PPP1R15B	202645543	0.001000	0.12720	0.941000	0.38009	0.786000	0.44442	-1.432000	0.02430	-1.053000	0.03218	-0.250000	0.11733	GAA	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087974.1		-	ENST00000367188.4	Missense_Mutation	SNP	1 : 204378920 - 204378920 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	277	79
ZNF136	7695	broad.mit.edu	37	19	12298499	12298499	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12298499C>T	ENST00000343979.4	+	4	1446	c.1306C>T	c.(1306-1308)Cga>Tga	p.R436*	ZNF136_ENST00000398616.2_Nonsense_Mutation_p.R370*	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	436					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						AACATCAATTCGAATACATGA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	55	56			NA	NA	19		NA											NA				12298499		2203	4300	6503	SO:0001587	stop_gained			U09367	CCDS32916.1	19p13.2	2013-01-08	2006-06-13		ENSG00000196646	ENSG00000196646	7695	7695		Zinc fingers, C2H2-type, -	12920	protein-coding gene	gene with protein product		604078	zinc finger protein 136 (clone pHZ-20)		NA	7557990	Standard	NM_003437	NM_003437	NA	Approved	pHZ-20	uc002mti.3	P52737	OTTHUMG00000156429	ENST00000343979.4:c.1306C>T	19.37:g.12298499C>T	ENSP00000344162:p.Arg436*	NA		37	CCDS32916.1	.	.	.	.	.	.	.	.	.	.	C	32	5.110029	0.94292	.	.	ENSG00000196646	ENST00000343979;ENST00000398616	.	.	.	1.25	0.105	0.14535	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6072	0.02686	0.3018:0.3472:0.0:0.351	.	.	.	.	X	436;370	.	.	R	+	1	2	ZNF136	12159499	0.000000	0.05858	0.011000	0.14972	0.796000	0.44982	-0.138000	0.10374	0.066000	0.16515	-0.181000	0.13052	CGA	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344151.2		+	ENST00000343979.4	Nonsense_Mutation	SNP	19 : 12298499 - 12298499 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	224	41
HIPK1	204851	broad.mit.edu	37	1	114483457	114483457	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114483457C>A	ENST00000369558.1	+	2	684	c.452C>A	c.(451-453)aCt>aAt	p.T151N	HIPK1_ENST00000369555.2_Missense_Mutation_p.T151N|HIPK1_ENST00000426820.2_Missense_Mutation_p.T151N|HIPK1_ENST00000369559.4_Missense_Mutation_p.T151N|HIPK1_ENST00000369554.2_Missense_Mutation_p.T151N|HIPK1_ENST00000369561.4_Missense_Mutation_p.T151N			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAAACAGGACTGTGGTGGGT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	55	56			NA	NA	1		NA											NA				114483457		2203	4300	6503	SO:0001583	missense			AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349	204851	204851			19006	protein-coding gene	gene with protein product		608003			NA		Standard	NM_198268	NM_198268	NA	Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.452C>A	1.37:g.114483457C>A	ENSP00000358571:p.Thr151Asn	NA	A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	37	CCDS867.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380664	0.42207	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561	T;T;T;T;T;T;T	0.51817	0.69;0.69;0.72;0.73;0.73;0.72;0.74	5.44	5.44	0.79542	.	0.088954	0.46758	D	0.000261	T	0.21718	0.0523	N	0.11560	0.145	0.80722	D	1	B;P	0.38167	0.072;0.621	B;B	0.39971	0.059;0.315	T	0.08289	-1.0729	10	0.24483	T	0.36	.	19.2883	0.94087	0.0:1.0:0.0:0.0	.	151;151	Q86Z02;Q86Z02-2	HIPK1_HUMAN;.	N	222;151;151;151;151;151;151	ENSP00000407442:T222N;ENSP00000358572:T151N;ENSP00000409673:T151N;ENSP00000358567:T151N;ENSP00000358568:T151N;ENSP00000358571:T151N;ENSP00000358574:T151N	ENSP00000358567:T151N	T	+	2	0	HIPK1	114284980	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.826000	0.62715	2.546000	0.85860	0.650000	0.86243	ACT	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033127.1		+	ENST00000369558.1	Missense_Mutation	SNP	1 : 114483457 - 114483457 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	243	52
DENND5A	23258	broad.mit.edu	37	11	9164309	9164309	+	Silent	SNP	C	C	T	rs145302750	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9164309C>T	ENST00000530044.1	-	21	3488	c.3471G>A	c.(3469-3471)tcG>tcA	p.S1157S	DENND5A_ENST00000527700.1_Silent_p.S500S|DENND5A_ENST00000328194.3_Silent_p.S1157S			Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1157	RUN 2.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGAGCCGGGGCGATTTAAATC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4402		0,0,2201	113	125	121		3471	-11.5	0.7	11	dbSNP_134	121	4,8588	3.7+/-12.6	0,4,4292	no	coding-synonymous	DENND5A	NM_015213.3		0,4,6493	TT,TC,CC	NA	0.0466,0.0,0.0308		1157/1288	9164309	4,12990	2201	4296	6497	SO:0001819	synonymous_variant			AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014	23258	23258		DENN/MADD domain containing	19344	protein-coding gene	gene with protein product			RAB6 interacting protein 1	RAB6IP1	NA	10470851	Standard	NM_015213	NM_015213	NA	Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000530044.1:c.3471G>A	11.37:g.9164309C>T		NA	Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	37	CCDS58119.1	.	.	.	.	.	.	.	.	.	.	C	9.498	1.102341	0.20632	0.0	4.66E-4	ENSG00000184014	ENST00000528725;ENST00000533737	.	.	.	5.8	-11.5	0.00074	.	.	.	.	.	T	0.34890	0.0913	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46345	-0.9198	4	.	.	.	.	4.4113	0.11434	0.1371:0.3831:0.2786:0.2013	.	.	.	.	H	56;45	.	.	R	-	2	0	DENND5A	9120885	0.000000	0.05858	0.748000	0.31131	0.996000	0.88848	-2.145000	0.01295	-1.597000	0.01609	-0.238000	0.12139	CGC	DENND5A-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385912.1		-	ENST00000530044.1	Silent	SNP	11 : 9164309 - 9164309 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	978	174
PEX1	5189	broad.mit.edu	37	7	92138680	92138680	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92138680C>T	ENST00000428214.1	-	9	1632	c.1633G>A	c.(1633-1635)Gac>Aac	p.D545N	PEX1_ENST00000248633.4_Missense_Mutation_p.D545N|PEX1_ENST00000541751.1_Intron|PEX1_ENST00000438045.1_Missense_Mutation_p.D223N	NM_001282677.1	NP_001269606.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	545					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AGAATAAAGTCAATTTCCTCA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	71	70			NA	NA	7		NA											NA				92138680		2203	4297	6500	SO:0001583	missense			AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980	5189	5189		ATPases / AAA-type	8850	protein-coding gene	gene with protein product		602136	peroxisome biogenesis factor 1, Zellweger syndrome 1, Zellweger syndrome	ZWS1, ZWS	NA	9398848	Standard	NM_000466	NM_001282677	NA	Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000428214.1:c.1633G>A	7.37:g.92138680C>T	ENSP00000394413:p.Asp545Asn	NA	A4D1G3|A8KA90|Q96S71|Q96S72|Q96S73|Q99994	37	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241212	0.79912	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214;ENST00000545192	D;D;D	0.95412	-3.51;-3.54;-3.7	5.95	4.89	0.63831	.	0.499086	0.24238	N	0.040300	D	0.94712	0.8294	L	0.55481	1.735	0.80722	D	1	B;D;D	0.59767	0.139;0.986;0.986	B;P;P	0.50970	0.045;0.655;0.655	D	0.92607	0.6096	10	0.30078	T	0.28	-18.6954	12.974	0.58527	0.0:0.911:0.0:0.089	.	223;337;545	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	N	223;545;545;545	ENSP00000410438:D223N;ENSP00000248633:D545N;ENSP00000394413:D545N	ENSP00000248633:D545N	D	-	1	0	PEX1	91976616	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.529000	0.45632	2.826000	0.97356	0.491000	0.48974	GAC	PEX1-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342659.1		-	ENST00000428214.1	Missense_Mutation	SNP	7 : 92138680 - 92138680 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	51
TRPM7	54822	broad.mit.edu	37	15	50901842	50901842	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50901842A>C	ENST00000313478.7	-	19	2797	c.2516T>G	c.(2515-2517)cTt>cGt	p.L839R	TRPM7_ENST00000560955.1_Missense_Mutation_p.L839R	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	839					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		CGTAATTGGAAGCTTTTTTGA	0.274		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													188	174	178			NA	NA	15		NA											NA				50901842		1818	4068	5886	SO:0001583	missense			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439	54822	54822		Voltage-gated ion channels / Transient receptor potential cation channels	17994	protein-coding gene	gene with protein product		605692			NA	11161216, 11385574, 16382100	Standard	NM_017672	XM_005254486	NA	Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.2516T>G	15.37:g.50901842A>C	ENSP00000320239:p.Leu839Arg	NA	Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	37	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.366274	0.82463	.	.	ENSG00000092439	ENST00000313478	T	0.81415	-1.49	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.88916	0.6567	M	0.74467	2.265	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	D	0.90256	0.4297	10	0.87932	D	0	-19.001	15.7606	0.78076	1.0:0.0:0.0:0.0	.	839	Q96QT4	TRPM7_HUMAN	R	839	ENSP00000320239:L839R	ENSP00000320239:L839R	L	-	2	0	TRPM7	48689134	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.497000	0.81536	2.137000	0.66172	0.383000	0.25322	CTT	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418604.1		-	ENST00000313478.7	Missense_Mutation	SNP	15 : 50901842 - 50901842 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	282	47
KDM5B	10765	broad.mit.edu	37	1	202698939	202698939	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202698939T>C	ENST00000367265.3	-	26	5557	c.4393A>G	c.(4393-4395)Act>Gct	p.T1465A	KDM5B_ENST00000367264.2_Missense_Mutation_p.T1501A	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1465					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AGGGAATGAGTTTCAGCAGAA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													219	202	208			NA	NA	1		NA											NA				202698939		2203	4300	6503	SO:0001583	missense			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139	10765	10765		Chromatin-modifying enzymes / K-demethylases, Zinc fingers, PHD-type	18039	protein-coding gene	gene with protein product	cancer/testis antigen 31, protein phosphatase 1, regulatory subunit 98	605393	Jumonji, AT rich interactive domain 1B (RBP2-like), jumonji, AT rich interactive domain 1B	JARID1B	NA	11483573, 11478881	Standard	NM_006618	NM_006618	NA	Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.4393A>G	1.37:g.202698939T>C	ENSP00000356234:p.Thr1465Ala	NA	O95811|Q15752|Q9Y3Q5	37	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	T	10.65	1.408742	0.25378	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264	D;D	0.84146	-1.81;-1.62	5.44	4.29	0.51040	Zinc finger, FYVE/PHD-type (1);	0.242623	0.42964	D	0.000635	T	0.77418	0.4127	L	0.36672	1.1	0.29722	N	0.838543	B;B	0.19073	0.033;0.009	B;B	0.17979	0.02;0.005	T	0.66874	-0.5813	10	0.25106	T	0.35	-4.6225	11.5021	0.50444	0.0:0.0709:0.0:0.9291	.	1501;1465	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	A	1465;1307;1501	ENSP00000356234:T1465A;ENSP00000356233:T1501A	ENSP00000356233:T1501A	T	-	1	0	KDM5B	200965562	1.000000	0.71417	0.983000	0.44433	0.991000	0.79684	3.409000	0.52657	0.875000	0.35847	0.528000	0.53228	ACT	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000099184.2		-	ENST00000367265.3	Missense_Mutation	SNP	1 : 202698939 - 202698939 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	973	242
DGKE	8526	broad.mit.edu	37	17	54925319	54925319	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54925319C>T	ENST00000284061.3	+	5	961	c.781C>T	c.(781-783)Cta>Tta	p.L261L		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	261	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TATCAAAGCCCTACAACTCTG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	103	103			NA	NA	17		NA											NA				54925319		2203	4300	6503	SO:0001819	synonymous_variant			U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	8526	8526	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	diacylglycerol kinase, epsilon (64kD)		NA	8626589, 10051413	Standard	NM_003647	NM_003647	NA	Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.781C>T	17.37:g.54925319C>T		NA	Q9UKQ3	37	CCDS11590.1																																																																																			DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000440601.1		+	ENST00000284061.3	Silent	SNP	17 : 54925319 - 54925319 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	568	29
LRP1B	53353	broad.mit.edu	37	2	141665573	141665573	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141665573A>G	ENST00000389484.3	-	22	4364	c.3393T>C	c.(3391-3393)tgT>tgC	p.C1131C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1131	LDL-receptor class A 9.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGAAACTGTCACAGTCATCTT	0.448		NA								TSP Lung(27;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(99;50 2074 2507 20106)							NA				0													197	160	173			NA	NA	2		NA											NA				141665573		2203	4300	6503	SO:0001819	synonymous_variant			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702	53353	53353		Low density lipoprotein receptors	6693	protein-coding gene	gene with protein product	LRP-deleted in tumors	608766			NA	10766186	Standard	NM_018557	NM_018557	NA	Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3393T>C	2.37:g.141665573A>G		NA	Q8WY29|Q8WY30|Q8WY31	37	CCDS2182.1																																																																																			LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254736.2		-	ENST00000389484.3	Silent	SNP	2 : 141665573 - 141665573 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	440	129
CDH5	1003	broad.mit.edu	37	16	66420804	66420804	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66420804C>T	ENST00000341529.3	+	3	451	c.303C>T	c.(301-303)gaC>gaT	p.D101D	CDH5_ENST00000563425.2_Silent_p.D101D	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	101	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		AGACAGGAGACGTGTTCGCCA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	85	90			NA	NA	16		NA											NA				66420804		2202	4300	6502	SO:0001819	synonymous_variant			X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776	1003	1003		CD molecules, Cadherins / Major cadherins	1764	protein-coding gene	gene with protein product	VE-cadherin	601120	cadherin 5, type 2, VE-cadherin (vascular epithelium)		NA	2059658	Standard	NM_001795	NM_001795	NA	Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.303C>T	16.37:g.66420804C>T		NA		37	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	C	2.271	-0.366899	0.05069	.	.	ENSG00000179776	ENST00000539262	.	.	.	5.79	-6.06	0.02165	.	.	.	.	.	T	0.70245	0.3202	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.77161	-0.2689	5	0.87932	D	0	.	15.9692	0.79998	0.0:0.2583:0.0:0.7417	.	.	.	.	M	23	.	ENSP00000437691:T23M	T	+	2	0	CDH5	64978305	0.094000	0.21725	0.583000	0.28640	0.378000	0.30076	-0.609000	0.05635	-1.009000	0.03400	-0.137000	0.14449	ACG	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268767.1		+	ENST00000341529.3	Silent	SNP	16 : 66420804 - 66420804 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	205	29
MAPT	4137	broad.mit.edu	37	17	44060851	44060851	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44060851C>A	ENST00000415613.2	+	5	681	c.681C>A	c.(679-681)tcC>tcA	p.S227S	MAPT_ENST00000446361.3_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000344290.5_Silent_p.S227S|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000571987.1_Silent_p.S227S|MAPT_ENST00000262410.5_Silent_p.S227S|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	227					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				TCGATGAGTCCTCCCCCCAAG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	23	27			NA	NA	17		NA											NA				44060851		2199	4289	6488	SO:0001819	synonymous_variant			J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868	4137	4137			6893	protein-coding gene	gene with protein product	G protein beta1/gamma2 subunit-interacting factor 1, microtubule-associated protein tau, isoform 4, protein phosphatase 1, regulatory subunit 103	157140		DDPAC, MAPTL	NA	7936241, 3131773	Standard	NM_016835	NM_001123067	NA	Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000415613.2:c.681C>A	17.37:g.44060851C>A		NA	P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	37	CCDS45715.1																																																																																			MAPT-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401265.1		+	ENST00000415613.2	Silent	SNP	17 : 44060851 - 44060851 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	136	22
ZNF527	84503	broad.mit.edu	37	19	37880058	37880058	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37880058T>G	ENST00000587349.1	+	7	519				ZNF527_ENST00000436120.2_Silent_p.R369R			Q8NB42	ZN527_HUMAN	zinc finger protein 527	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTTTAGCCGTTATGCCTTCC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	69	67			NA	NA	19		NA											NA				37880058		2199	4300	6499	SO:0001627	intron_variant			AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164	84503	84503		Zinc fingers, C2H2-type, -	29385	protein-coding gene	gene with protein product					NA	11347906	Standard	NM_032453	NM_032453	NA	Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000587349.1:c.439-3259T>G	19.37:g.37880058T>G		NA	B4DVL5	37																																																																																				ZNF527-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000458436.1		+	ENST00000587349.1	Intron	SNP	19 : 37880058 - 37880058 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	274	54
DCLK1	9201	broad.mit.edu	37	13	36700099	36700099	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36700099A>G	ENST00000255448.4	-	2	387	c.176T>C	c.(175-177)gTt>gCt	p.V59A	DCLK1_ENST00000379892.4_Missense_Mutation_p.V59A|DCLK1_ENST00000360631.3_Missense_Mutation_p.V59A	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	59	Doublecortin 1.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ATAGAAACGAACTTTCTTGGC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	85	88			NA	NA	13		NA											NA				36700099		2203	4300	6503	SO:0001583	missense			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083	9201	9201			2700	protein-coding gene	gene with protein product		604742	doublecortin and CaM kinase-like 1	DCAMKL1	NA	9747029, 10036192	Standard	NM_004734	NM_004734	NA	Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000255448.4:c.176T>C	13.37:g.36700099A>G	ENSP00000255448:p.Val59Ala	NA	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	37	CCDS9354.1	.	.	.	.	.	.	.	.	.	.	A	15.84	2.953052	0.53293	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	D;D;D	0.90324	-2.65;-2.65;-2.65	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.91219	0.7233	M	0.79258	2.445	0.80722	D	1	B	0.13145	0.007	B	0.30316	0.114	D	0.87969	0.2735	10	0.30078	T	0.28	.	15.9073	0.79439	1.0:0.0:0.0:0.0	.	59	O15075-2	.	A	59	ENSP00000255448:V59A;ENSP00000353846:V59A;ENSP00000369222:V59A	ENSP00000255448:V59A	V	-	2	0	DCLK1	35598099	1.000000	0.71417	0.976000	0.42696	0.816000	0.46133	9.127000	0.94417	2.158000	0.67659	0.528000	0.53228	GTT	DCLK1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044483.1		-	ENST00000255448.4	Missense_Mutation	SNP	13 : 36700099 - 36700099 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	523	104
PRR12	57479	broad.mit.edu	37	19	50098064	50098064	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50098064G>A	ENST00000418929.2	+	4	484	c.472G>A	c.(472-474)Ggc>Agc	p.G158S		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	571	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GGCTTCCTTCGGCAGCCGCCC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	26	24			NA	NA	19		NA											NA				50098064		1997	4149	6146	SO:0001583	missense			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464	57479	57479			29217	protein-coding gene	gene with protein product			KIAA1205	KIAA1205	NA	10574462	Standard	NM_020719	NM_020719	NA	Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.472G>A	19.37:g.50098064G>A	ENSP00000394510:p.Gly158Ser	NA	E9PB06|Q8N4J6	37	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615774	0.28801	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.71	2.67	0.31697	.	.	.	.	.	T	0.13114	0.0318	.	.	.	0.24849	N	0.992416	B	0.24368	0.102	B	0.17098	0.017	T	0.31696	-0.9934	7	0.02654	T	1	.	5.27	0.15620	0.3422:0.0:0.6578:0.0	.	158	Q9ULL5-3	.	S	158	.	ENSP00000394510:G158S	G	+	1	0	PRR12	54789876	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.418000	0.34782	0.922000	0.37019	0.563000	0.77884	GGC	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465915.1		+	ENST00000418929.2	Missense_Mutation	SNP	19 : 50098064 - 50098064 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	132	33
MYH14	79784	broad.mit.edu	37	19	50796920	50796920	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50796920C>T	ENST00000601313.1	+	39	5475	c.5445C>T	c.(5443-5445)gaC>gaT	p.D1815D	MYH14_ENST00000596571.1_Silent_p.D1774D|MYH14_ENST00000262269.8_Silent_p.D1815D|MYH14_ENST00000440075.2_Silent_p.D1815D|MYH14_ENST00000376970.2_Silent_p.D1807D|MYH14_ENST00000425460.1_Silent_p.D1782D|MYH14_ENST00000598205.1_Silent_p.D1782D	NM_001145809.1	NP_001139281.1	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1774					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TGCTCAATGACCGCTACCGCA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	51	51			NA	NA	19		NA											NA				50796920		2192	4294	6486	SO:0001819	synonymous_variant			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357	79784	79784		Myosins / Myosin superfamily : Class II	23212	protein-coding gene	gene with protein product		608568	myosin, heavy polypeptide 14, myosin, heavy chain 14	DFNA4	NA	12909352, 15015131, 17940200	Standard	NM_024729	NM_024729	NA	Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000601313.1:c.5445C>T	19.37:g.50796920C>T		NA	B0I1S2|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	37	CCDS54295.1																																																																																			MYH14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464709.2		+	ENST00000601313.1	Silent	SNP	19 : 50796920 - 50796920 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	53
CHAF1B	8208	broad.mit.edu	37	21	37763902	37763902	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37763902G>A	ENST00000314103.5	+	4	464	c.313G>A	c.(313-315)Gct>Act	p.A105T	CHAF1B_ENST00000480486.1_3'UTR	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	NA					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						GGAGCAGATCGCTTTTCAGGA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	100	105			NA	NA	21		NA											NA				37763902		2203	4300	6503	SO:0001583	missense			U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259	8208	8208		WD repeat domain containing	1911	protein-coding gene	gene with protein product	M-phase phosphoprotein 7, Chromatin assembly factor I, p60 subunit, human chromatin assembly factor-I p60 subunit	601245			NA	7600578, 8792829	Standard	NM_005441	NM_005441	NA	Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.313G>A	21.37:g.37763902G>A	ENSP00000315700:p.Ala105Thr	NA	Q99548	37	CCDS13644.1	.	.	.	.	.	.	.	.	.	.	G	8.799	0.932325	0.18131	.	.	ENSG00000159259	ENST00000314103	T	0.56275	0.47	5.18	4.3	0.51218	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.481323	0.24363	N	0.039173	T	0.33585	0.0868	N	0.17764	0.52	0.22500	N	0.999043	B	0.10296	0.003	B	0.06405	0.002	T	0.14811	-1.0459	10	0.17832	T	0.49	-5.9072	9.6314	0.39782	0.0758:0.1408:0.7834:0.0	.	105	Q13112	CAF1B_HUMAN	T	105	ENSP00000315700:A105T	ENSP00000315700:A105T	A	+	1	0	CHAF1B	36685772	0.014000	0.17966	0.135000	0.22099	0.581000	0.36288	1.069000	0.30641	1.311000	0.45024	-0.126000	0.14955	GCT	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000194616.2		+	ENST00000314103.5	Missense_Mutation	SNP	21 : 37763902 - 37763902 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	200	23
PTOV1	53635	broad.mit.edu	37	19	50357694	50357694	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50357694C>A	ENST00000601675.1	+	2	307	c.203C>A	c.(202-204)cCc>cAc	p.P68H	AC018766.6_ENST00000601211.1_RNA|PTOV1_ENST00000601638.1_Missense_Mutation_p.P36H|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000599732.1_Missense_Mutation_p.P68H|PTOV1_ENST00000221557.9_Missense_Mutation_p.P36H|PTOV1_ENST00000600603.1_Missense_Mutation_p.P36H|PTOV1_ENST00000391842.1_Missense_Mutation_p.P68H			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	68					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GCACTGGGTCCCATCGGTCCC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	105	101			NA	NA	19		NA											NA				50357694		2203	4300	6503	SO:0001583	missense			AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960	53635	53635			9632	protein-coding gene	gene with protein product		610195			NA	12598323, 15713644	Standard	NM_017432	XM_005258998	NA	Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.203C>A	19.37:g.50357694C>A	ENSP00000472816:p.Pro68His	NA	Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	37	CCDS12782.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403721	0.62288	.	.	ENSG00000104960	ENST00000221557;ENST00000391842	.	.	.	3.92	3.92	0.45320	.	0.184196	0.34002	U	0.004353	T	0.50205	0.1602	N	0.19112	0.55	0.33612	D	0.603735	D;D;D	0.76494	0.999;0.994;0.994	P;P;D	0.69479	0.907;0.897;0.964	T	0.62909	-0.6754	9	0.87932	D	0	-35.9482	11.7343	0.51757	0.0:1.0:0.0:0.0	.	36;68;36	B4DG17;Q86YD1;Q86YD1-2	.;PTOV1_HUMAN;.	H	36;68	.	ENSP00000221557:P36H	P	+	2	0	PTOV1	55049506	0.820000	0.29190	1.000000	0.80357	0.914000	0.54420	2.292000	0.43549	2.476000	0.83614	0.563000	0.77884	CCC	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465347.1		+	ENST00000601675.1	Missense_Mutation	SNP	19 : 50357694 - 50357694 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1031	34
PUM2	23369	broad.mit.edu	37	2	20511261	20511261	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:20511261T>G	ENST00000338086.5	-	4	534	c.512A>C	c.(511-513)gAt>gCt	p.D171A	PUM2_ENST00000536417.1_Missense_Mutation_p.D115A|PUM2_ENST00000361078.2_Missense_Mutation_p.D171A|PUM2_ENST00000403432.1_Missense_Mutation_p.D171A|PUM2_ENST00000420234.1_Intron|PUM2_ENST00000319801.5_Missense_Mutation_p.D171A	NM_001282752.1|NM_015317.1	NP_001269681.1|NP_056132.1	Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	171	Interaction with SNAPIN.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTACTTAAAATCTTTGCAATC	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	92	93			NA	NA	2		NA											NA				20511261		2203	4300	6503	SO:0001583	missense			AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917	23369	23369			14958	protein-coding gene	gene with protein product		607205	pumilio (Drosphila) homolog 2, pumilio homolog 2 (Drosophila)		NA	9039502, 12459267, 12511597	Standard	NM_015317	XM_005262607	NA	Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000338086.5:c.512A>C	2.37:g.20511261T>G	ENSP00000338173:p.Asp171Ala	NA	B3KSL0|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	37	CCDS1698.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.672316	0.88348	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417;ENST00000442400	T;T;T;T;T;T	0.21361	2.3;2.57;2.52;2.01;2.3;2.27	5.84	5.84	0.93424	.	0.041485	0.85682	D	0.000000	T	0.41534	0.1163	L	0.58101	1.795	0.80722	D	1	P;B;D	0.65815	0.944;0.295;0.995	P;B;P	0.62014	0.698;0.091;0.897	T	0.19712	-1.0297	10	0.62326	D	0.03	-6.8791	16.2055	0.82126	0.0:0.0:0.0:1.0	.	115;171;171	B4E2B6;B7ZL34;Q8TB72-3	.;.;.	A	171;171;171;62;171;115;171	ENSP00000338173:D171A;ENSP00000354370:D171A;ENSP00000326746:D171A;ENSP00000409905:D62A;ENSP00000385992:D171A;ENSP00000440093:D115A	ENSP00000326746:D171A	D	-	2	0	PUM2	20374742	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.811000	0.86092	2.220000	0.72140	0.533000	0.62120	GAT	PUM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000242862.1		-	ENST00000338086.5	Missense_Mutation	SNP	2 : 20511261 - 20511261 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	271	31
MYO7A	4647	broad.mit.edu	37	11	76912632	76912632	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76912632C>T	ENST00000409709.3	+	36	5264	c.4992C>T	c.(4990-4992)acC>acT	p.T1664T	MYO7A_ENST00000409619.2_Silent_p.T1615T|MYO7A_ENST00000458637.2_Silent_p.T1626T	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1664	SH3.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACTTCCCCACCGACAGTGTGT	0.612		NA											c	19	0.01	0.01	0.0028	2184	0.01	0.994	,	,	NA	0.0068	0.01	NA	NA	0.0104	0.7574	LOWCOV	NA	NA	3e-04	SNP								NA				0								C	,	42,4240		0,42,2099	71	77	75		4992,4878	-9.2	0.1	11		75	0,8468		0,0,4234	no	coding-synonymous,coding-synonymous	MYO7A	NM_000260.3,NM_001127180.1	,	0,42,6333	TT,TC,CC	NA	0.0,0.9809,0.3294	,	1664/2216,1626/2176	76912632	42,12708	2141	4234	6375	SO:0001819	synonymous_variant			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474	4647	4647		A-kinase anchor proteins, Myosins / Myosin superfamily : Class VII	7606	protein-coding gene	gene with protein product		276903	myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))	USH1B, DFNB2, DFNA11	NA	8884266	Standard	NM_000260	NM_000260	NA	Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.4992C>T	11.37:g.76912632C>T		NA	P78427|Q13321|Q14785|Q92821|Q92822	37	CCDS53683.1																																																																																			MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328133.1		+	ENST00000409709.3	Silent	SNP	11 : 76912632 - 76912632 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	259	43
SLC5A3	6526	broad.mit.edu	37	21	35469406	35469406	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35469406G>T	ENST00000381151.3	+	2	2421	c.1909G>T	c.(1909-1911)Gct>Tct	p.A637S	MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000608209.1_Missense_Mutation_p.A637S|AP000320.7_ENST00000362077.4_RNA			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	637						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TGGGCAAGCAGCTCTCATGGG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	76	78			NA	NA	21		NA											NA				35469406		2203	4300	6503	SO:0001583	missense				CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743	6526	6526		Solute carriers	11038	protein-coding gene	gene with protein product		600444	solute carrier family 5 (inositol transporter), member 3		NA	7789985	Standard		NM_006933	NA	Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.1909G>T	21.37:g.35469406G>T	ENSP00000370543:p.Ala637Ser	NA	O43489	37	CCDS33549.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163213	0.38217	.	.	ENSG00000198743	ENST00000381151	D	0.85861	-2.04	6.06	5.18	0.71444	.	0.480265	0.18467	N	0.140345	T	0.76133	0.3945	N	0.22421	0.69	0.30363	N	0.783593	B	0.12013	0.005	B	0.14023	0.01	T	0.66991	-0.5783	10	0.18710	T	0.47	.	14.7718	0.69684	0.0693:0.0:0.9307:0.0	.	637	P53794	SC5A3_HUMAN	S	637	ENSP00000370543:A637S	ENSP00000370543:A637S	A	+	1	0	SLC5A3	34391276	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	5.336000	0.65935	1.582000	0.49881	0.643000	0.83706	GCT	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000141037.1		+	ENST00000381151.3	Missense_Mutation	SNP	21 : 35469406 - 35469406 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	456	42
TMEM165	55858	broad.mit.edu	37	4	56283999	56283999	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56283999G>A	ENST00000381334.5	+	4	872	c.639G>A	c.(637-639)ccG>ccA	p.P213P	TMEM165_ENST00000542052.1_Silent_p.P150P|TMEM165_ENST00000514904.1_3'UTR|TMEM165_ENST00000506198.1_Intron	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	213						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			TAAATGGACCGGGAGATGTTG	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	80	80			NA	NA	4		NA											NA				56283999		2203	4300	6503	SO:0001819	synonymous_variant			AF183409	CCDS3499.1	4q12	2014-03-13			ENSG00000134851	ENSG00000134851	55858	55858			30760	protein-coding gene	gene with protein product	TPA regulated locus	614726			NA	3202867, 22683087, 23575229	Standard	NM_018475	NM_018475	NA	Approved	TMPT27, TPARL, GDT1	uc003hax.3	Q9HC07	OTTHUMG00000128735	ENST00000381334.5:c.639G>A	4.37:g.56283999G>A		NA	A8K3P8|Q9BTN9|Q9NZ34	37	CCDS3499.1																																																																																			TMEM165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250646.4		+	ENST00000381334.5	Silent	SNP	4 : 56283999 - 56283999 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	202	39
MTO1	25821	broad.mit.edu	37	6	74201963	74201963	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74201963C>T	ENST00000498286.1	+	10	1921	c.1644C>T	c.(1642-1644)ctC>ctT	p.L548L	MTO1_ENST00000370305.1_Silent_p.L499L|MTO1_ENST00000415954.2_Silent_p.L588L|RP11-505P4.6_ENST00000423099.1_RNA|MTO1_ENST00000370300.4_Silent_p.L573L			Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	573					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						GCAGAGCTCTCGATGTTCTGA	0.373		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	6		NA											NA				74201963		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.1644C>T	6.37:g.74201963C>T		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 : 74201963 - 74201963 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	304	51
SYNE2	23224	broad.mit.edu	37	14	64518405	64518405	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64518405G>A	ENST00000554584.1	+	48	7924	c.7873G>A	c.(7873-7875)Gat>Aat	p.D2625N	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.D2592N|SYNE2_ENST00000358025.3_Missense_Mutation_p.D2592N			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2592					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GACTGACATGGATAAGAAATT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	84	86			NA	NA	14		NA											NA				64518405		1857	4103	5960	SO:0001583	missense			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654	23224	23224			17084	protein-coding gene	gene with protein product	nuclear envelope spectrin repeat-2, nucleus and actin connecting element	608442			NA	10231032, 10878022	Standard	NM_182914	NM_182910	NA	Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000554584.1:c.7873G>A	14.37:g.64518405G>A	ENSP00000452570:p.Asp2625Asn	NA	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	37		.	.	.	.	.	.	.	.	.	.	G	13.87	2.365146	0.41902	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.73152	1.15;1.15;-0.72	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000009	T	0.78438	0.4283	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.77230	-0.2664	10	0.45353	T	0.12	.	18.4595	0.90734	0.0:0.0:1.0:0.0	.	2592;2592	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	N	2592;2592;2625;2625	ENSP00000350719:D2592N;ENSP00000341781:D2592N;ENSP00000452570:D2625N	ENSP00000261678:D2625N	D	+	1	0	SYNE2	63588158	1.000000	0.71417	1.000000	0.80357	0.279000	0.26890	6.394000	0.73223	2.788000	0.95919	0.650000	0.86243	GAT	SYNE2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000411905.1		+	ENST00000554584.1	Missense_Mutation	SNP	14 : 64518405 - 64518405 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	376	79
THSD7A	221981	broad.mit.edu	37	7	11415430	11415430	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11415430G>A	ENST00000423059.4	-	28	5216	c.4965C>T	c.(4963-4965)gcC>gcT	p.A1655A	AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000599875.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	NA						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GTTACATGTCGGCATCTCCAT	0.408		NA								HNSCC(18;0.044)			G	2	9e-04	NA	0.0028	2184	NA	0.9992	,	,	NA	6e-04	0.0013	NA	NA	0.0012	0.7343	LOWCOV,EXOME	NA	NA	7e-04	SNP								NA				0													161	163	162			NA	NA	7		NA											NA				11415430		1836	4095	5931	SO:0001819	synonymous_variant				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108	221981	221981			22207	protein-coding gene	gene with protein product		612249			NA		Standard	XM_928187.2	NM_015204	NA	Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.4965C>T	7.37:g.11415430G>A		NA		37	CCDS47543.1																																																																																			THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325944.4		-	ENST00000423059.4	Silent	SNP	7 : 11415430 - 11415430 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	447	48
TMEM200B	399474	broad.mit.edu	37	1	29447499	29447499	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29447499C>T	ENST00000420504.2	-	2	999	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	TMEM200B_ENST00000521452.1_Missense_Mutation_p.R281Q	NM_001171868.1	NP_001165339.1	Q69YZ2	T200B_HUMAN	transmembrane protein 200B	281						integral to membrane				ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126)		TGGCCAGCTTCGGTGAGCACA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	23	22			NA	NA	1		NA											NA				29447499		2203	4300	6503	SO:0001583	missense				CCDS30658.1	1p35	2007-12-18			ENSG00000253304	ENSG00000253304	399474	399474			33785	protein-coding gene	gene with protein product					NA	15722956	Standard	NM_001003682	NM_001003682	NA	Approved	TTMB	uc001brn.2	Q69YZ2	OTTHUMG00000003658	ENST00000420504.2:c.842G>A	1.37:g.29447499C>T	ENSP00000428544:p.Arg281Gln	NA	Q6P2G8|Q6P2Q5	37	CCDS30658.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916115	0.92178	.	.	ENSG00000253304	ENST00000521452;ENST00000420504	.	.	.	4.26	4.26	0.50523	.	0.000000	0.36234	U	0.002718	T	0.54175	0.1842	N	0.19112	0.55	0.35186	D	0.772954	D	0.76494	0.999	P	0.61132	0.884	T	0.68025	-0.5518	9	0.87932	D	0	.	14.3489	0.66685	0.0:1.0:0.0:0.0	.	281	Q69YZ2	T200B_HUMAN	Q	281	.	ENSP00000428544:R281Q	R	-	2	0	TMEM200B	29320086	0.819000	0.29175	1.000000	0.80357	0.989000	0.77384	1.248000	0.32827	2.348000	0.79779	0.655000	0.94253	CGA	TMEM200B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000010377.2		-	ENST00000420504.2	Missense_Mutation	SNP	1 : 29447499 - 29447499 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	166	32
TG	7038	broad.mit.edu	37	8	133919108	133919108	+	Silent	SNP	C	C	A	rs61747463		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133919108C>A	ENST00000220616.4	+	17	3850	c.3810C>A	c.(3808-3810)cgC>cgA	p.R1270R	TG_ENST00000377869.1_Silent_p.R1270R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1270					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGAGCGGACGCTGGGAGTCAC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	28	30			NA	NA	8		NA											NA				133919108		2203	4300	6503	SO:0001819	synonymous_variant			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832	7038	7038			11764	protein-coding gene	gene with protein product		188450			NA		Standard	NM_003235	NM_003235	NA	Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3810C>A	8.37:g.133919108C>A		NA	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	9.004	0.980737	0.18812	.	.	ENSG00000042832	ENST00000518505	.	.	.	5.42	3.47	0.39725	.	.	.	.	.	T	0.56746	0.2006	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52968	-0.8504	4	.	.	.	.	8.0575	0.30614	0.1816:0.6431:0.1753:0.0	rs61747463	.	.	.	D	214	.	.	A	+	2	0	TG	133988290	0.180000	0.23148	0.857000	0.33713	0.795000	0.44927	0.416000	0.21198	1.241000	0.43820	0.609000	0.83330	GCT	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379606.1		+	ENST00000220616.4	Silent	SNP	8 : 133919108 - 133919108 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	152	27
IFT80	57560	broad.mit.edu	37	3	160073860	160073860	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160073860C>T	ENST00000326448.7	-	8	1150	c.718G>A	c.(718-720)Gat>Aat	p.D240N	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.D411N|IFT80_ENST00000483465.1_Missense_Mutation_p.D103N|IFT80_ENST00000496589.1_Missense_Mutation_p.D103N	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	240						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AATTCTCCATCTGGAGCCCAG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	102	105			NA	NA	3		NA											NA				160073860		2203	4300	6503	SO:0001583	missense			AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885	57560	57560		Intraflagellar transport homologs, WD repeat domain containing	29262	protein-coding gene	gene with protein product		611177	WD repeat domain 56, intraflagellar transport 80 homolog (Chlamydomonas)	WDR56	NA	10718198	Standard	NM_020800	NM_020800	NA	Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.718G>A	3.37:g.160073860C>T	ENSP00000312778:p.Asp240Asn	NA	B4E0K1|Q3MJC4|Q86YF4|Q9UIX1	37	CCDS3188.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.517515	0.64634	.	.	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589;ENST00000465537	T;T;T;T	0.62498	1.3;0.02;0.02;1.37	5.37	4.5	0.54988	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.000000	0.56097	U	0.000030	T	0.64907	0.2641	L	0.31476	0.935	0.80722	D	1	D	0.56968	0.978	P	0.60473	0.875	T	0.63301	-0.6668	10	0.34782	T	0.22	-12.0688	13.5991	0.62010	0.0:0.9256:0.0:0.0744	.	240	Q9P2H3	IFT80_HUMAN	N	240;103;103;103	ENSP00000312778:D240N;ENSP00000418196:D103N;ENSP00000420646:D103N;ENSP00000418602:D103N	ENSP00000312778:D240N	D	-	1	0	IFT80	161556554	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.422000	0.80217	1.268000	0.44264	0.655000	0.94253	GAT	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352651.2		-	ENST00000326448.7	Missense_Mutation	SNP	3 : 160073860 - 160073860 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	489	25
SRGAP1	57522	broad.mit.edu	37	12	64456834	64456834	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64456834C>T	ENST00000355086.3	+	7	1463	c.939C>T	c.(937-939)agC>agT	p.S313S	RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Silent_p.S273S|SRGAP1_ENST00000357825.3_Silent_p.S313S	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	313					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AGCCCAGGAGCGATAAGCAGA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	126	130			NA	NA	12		NA											NA				64456834		2203	4300	6503	SO:0001819	synonymous_variant			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935	57522	57522		Rho GTPase activating proteins	17382	protein-coding gene	gene with protein product		606523			NA	11672528	Standard		NM_020762	NA	Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.939C>T	12.37:g.64456834C>T		NA	Q9H8A3|Q9P2P2	37	CCDS8967.1																																																																																			SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400896.1		+	ENST00000355086.3	Silent	SNP	12 : 64456834 - 64456834 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	429	82
DTX2	113878	broad.mit.edu	37	7	76112048	76112048	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:76112048G>T	ENST00000324432.5	+	5	1002	c.492G>T	c.(490-492)aaG>aaT	p.K164N	DTX2_ENST00000446600.1_Missense_Mutation_p.K73N|DTX2_ENST00000446820.2_Missense_Mutation_p.K164N|DTX2_ENST00000307569.8_Missense_Mutation_p.K164N|DTX2_ENST00000413936.2_Missense_Mutation_p.K164N|DTX2_ENST00000430490.2_Missense_Mutation_p.K164N	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	164	WWE 2.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						AGACCAACAAGACTTCCAGCT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	49	52			NA	NA	7		NA											NA				76112048		2203	4300	6503	SO:0001583	missense				CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073	113878	113878		RING-type (C3HC4) zinc fingers	15973	protein-coding gene	gene with protein product		613141	deltex (Drosophila) homolog 2, deltex homolog 2 (Drosophila)		NA	12670957	Standard		NM_020892	NA	Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.492G>T	7.37:g.76112048G>T	ENSP00000322885:p.Lys164Asn	NA	Q6XM88|Q96H69|Q9H890|Q9P200	37	CCDS5587.1	.	.	.	.	.	.	.	.	.	.	.	15.11	2.737445	0.49045	.	.	ENSG00000091073	ENST00000324432;ENST00000307569;ENST00000541989;ENST00000446600;ENST00000413936;ENST00000430490;ENST00000446820	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	5.41	3.6	0.41247	WWE domain (2);WWE domain, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.52125	0.1715	L	0.52011	1.625	0.48901	D	0.999729	D;D;D	0.76494	0.996;0.999;0.996	D;D;P	0.71414	0.931;0.973;0.88	T	0.43114	-0.9411	10	0.33940	T	0.23	-28.7245	8.4975	0.33136	0.2368:0.0:0.7632:0.0	.	73;164;164	F5GX89;Q86UW9-2;Q86UW9	.;.;DTX2_HUMAN	N	164;164;73;73;164;164;164	ENSP00000322885:K164N;ENSP00000305242:K164N;ENSP00000397648:K73N;ENSP00000390218:K164N;ENSP00000411986:K164N;ENSP00000392545:K164N	ENSP00000305242:K164N	K	+	3	2	AC005522.1	75949984	1.000000	0.71417	1.000000	0.80357	0.310000	0.27922	2.134000	0.42102	0.673000	0.31224	0.561000	0.74099	AAG	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253104.2		+	ENST00000324432.5	Missense_Mutation	SNP	7 : 76112048 - 76112048 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	337	29
MYF6	4618	broad.mit.edu	37	12	81102007	81102007	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81102007A>C	ENST00000228641.3	+	1	731	c.509A>C	c.(508-510)aAa>aCa	p.K170T		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	170					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TACAGACCCAAACAAGAAAAT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	35	34			NA	NA	12		NA											NA				81102007		2198	4294	6492	SO:0001583	missense				CCDS9019.1	12q21	2013-05-21				ENSG00000111046	4618	4618		Basic helix-loop-helix proteins	7566	protein-coding gene	gene with protein product	muscle-specific regulatory factor 4	159991			NA	8978788	Standard	NM_002469	NM_002469	NA	Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.509A>C	12.37:g.81102007A>C	ENSP00000228641:p.Lys170Thr	NA	B2R898|Q53X80|Q6FHI9	37	CCDS9019.1	.	.	.	.	.	.	.	.	.	.	A	11.81	1.750526	0.31046	.	.	ENSG00000111046	ENST00000228641	D	0.96104	-3.91	5.95	5.95	0.96441	Helix-loop-helix DNA-binding (1);	0.199532	0.51477	D	0.000089	D	0.93936	0.8059	M	0.62723	1.935	0.58432	D	0.999996	P	0.50272	0.933	B	0.43508	0.422	D	0.92617	0.6104	10	0.12766	T	0.61	-20.4436	16.0971	0.81132	1.0:0.0:0.0:0.0	.	170	P23409	MYF6_HUMAN	T	170	ENSP00000228641:K170T	ENSP00000228641:K170T	K	+	2	0	MYF6	79626138	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.761000	0.74945	2.279000	0.76181	0.533000	0.62120	AAA	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407756.1		+	ENST00000228641.3	Missense_Mutation	SNP	12 : 81102007 - 81102007 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	389	73
MSGN1	343930	broad.mit.edu	37	2	17998000	17998000	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17998000G>T	ENST00000281047.3	+	1	238	c.215G>T	c.(214-216)gGc>gTc	p.G72V		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	72					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGTGAGCACGGCGGGGCCAGC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(127;325 1712 14802 40657 49130)							NA				0													39	46	44			NA	NA	2		NA											NA				17998000		1926	4114	6040	SO:0001583	missense				CCDS42657.1	2p24.2	2007-07-23			ENSG00000151379	ENSG00000151379	343930	343930			14907	protein-coding gene	gene with protein product	paraxial mesogenin	612209			NA	10837126	Standard	XM_292850	NM_001105569	NA	Approved	pMesogenin1	uc010yjt.2	A6NI15	OTTHUMG00000159089	ENST00000281047.3:c.215G>T	2.37:g.17998000G>T	ENSP00000281047:p.Gly72Val	NA		37	CCDS42657.1	.	.	.	.	.	.	.	.	.	.	G	5.439	0.266048	0.10294	.	.	ENSG00000151379	ENST00000281047	T	0.16196	2.36	5.25	2.36	0.29203	.	0.451160	0.23656	N	0.045876	T	0.14184	0.0343	L	0.43152	1.355	0.18873	N	0.999986	B	0.29085	0.232	B	0.32533	0.147	T	0.22765	-1.0207	10	0.26408	T	0.33	-4.4513	8.327	0.32162	0.2753:0.0:0.7247:0.0	.	72	A6NI15	MSGN1_HUMAN	V	72	ENSP00000281047:G72V	ENSP00000281047:G72V	G	+	2	0	MSGN1	17861481	0.002000	0.14202	0.000000	0.03702	0.058000	0.15608	1.157000	0.31724	0.316000	0.23135	-0.345000	0.07892	GGC	MSGN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353253.1		+	ENST00000281047.3	Missense_Mutation	SNP	2 : 17998000 - 17998000 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	657	102
RSPH4A	345895	broad.mit.edu	37	6	116938420	116938420	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116938420C>T	ENST00000229554.5	+	1	771	c.634C>T	c.(634-636)Cag>Tag	p.Q212*	RSPH4A_ENST00000368580.4_Nonsense_Mutation_p.Q212*|RSPH4A_ENST00000368581.4_Nonsense_Mutation_p.Q212*	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	212					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GATCACCATTCAGAATGCTAA	0.478		NA							Kartagener syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	78	75			NA	NA	6		NA											NA				116938420		2203	4300	6503	SO:0001587	stop_gained	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834	345895	345895			21558	protein-coding gene	gene with protein product		612647	radial spokehead-like 3	RSHL3	NA	19200523	Standard	NM_001010892	NM_001010892	NA	Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.634C>T	6.37:g.116938420C>T	ENSP00000229554:p.Gln212*	NA	B4DSI1|Q3KP24|Q5TD95	37	CCDS34521.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.998061	0.93227	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000447842;ENST00000368580	.	.	.	5.01	4.13	0.48395	.	0.318663	0.31721	N	0.007164	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-1.7371	11.2373	0.48949	0.0:0.8155:0.1845:0.0	.	.	.	.	X	212;212;7;212	.	ENSP00000229554:Q212X	Q	+	1	0	RSPH4A	117045113	0.995000	0.38212	0.899000	0.35326	0.479000	0.33129	4.048000	0.57390	1.314000	0.45095	0.467000	0.42956	CAG	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041960.1		+	ENST00000229554.5	Nonsense_Mutation	SNP	6 : 116938420 - 116938420 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	765	146
PAPOLA	10914	broad.mit.edu	37	14	97018865	97018865	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:97018865G>A	ENST00000392990.2	+	17	1605	c.1570G>A	c.(1570-1572)Gac>Aac	p.D524N	PAPOLA_ENST00000216277.8_Missense_Mutation_p.D524N			P51003	PAPOA_HUMAN	poly(A) polymerase alpha	524	Ser/Thr-rich.	Interaction with RNA (By similarity).			mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		CAGCAGCCTCGACTTGTCTAT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(19;254 734 11908 35501 39234)							NA				0								G	ASN/ASP	0,4406		0,0,2203	111	102	105		1570	5.3	1	14		105	1,8599	1.2+/-3.3	0,1,4299	no	missense	PAPOLA	NM_032632.3	23	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	possibly-damaging	524/746	97018865	1,13005	2203	4300	6503	SO:0001583	missense			X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	10914	10914	2.7.7.19		14981	protein-coding gene	gene with protein product		605553			NA	8302877, 10429366	Standard		NM_032632	NA	Approved	PAP	uc001yfq.3	P51003		ENST00000392990.2:c.1570G>A	14.37:g.97018865G>A	ENSP00000376716:p.Asp524Asn	NA	Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	37		.	.	.	.	.	.	.	.	.	.	G	20.9	4.070980	0.76301	0.0	1.16E-4	ENSG00000090060	ENST00000216277;ENST00000546064;ENST00000392990;ENST00000555626	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.52917	0.1764	M	0.61703	1.905	0.80722	D	1	P;P;P	0.47106	0.89;0.856;0.856	B;B;B	0.36335	0.222;0.148;0.148	T	0.54879	-0.8227	9	0.18710	T	0.47	.	19.3796	0.94527	0.0:0.0:1.0:0.0	.	540;540;524	F5H5I8;B4DYF4;P51003	.;.;PAPOA_HUMAN	N	524;540;524;274	.	ENSP00000216277:D524N	D	+	1	0	PAPOLA	96088618	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	8.102000	0.89548	2.644000	0.89710	0.650000	0.86243	GAC	PAPOLA-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000413479.1		+	ENST00000392990.2	Missense_Mutation	SNP	14 : 97018865 - 97018865 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	455	79
FARP1	10160	broad.mit.edu	37	13	99099020	99099020	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:99099020T>C	ENST00000376586.2	+	27	3434	c.3098T>C	c.(3097-3099)tTc>tCc	p.F1033S	FARP1_ENST00000319562.6_Missense_Mutation_p.F1002S|FARP1_ENST00000595437.1_Missense_Mutation_p.F1033S			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	1002					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AAGCTGCACTTCAAGTCCCAC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													204	150	168			NA	NA	13		NA											NA				99099020		2203	4300	6503	SO:0001583	missense			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767	10160	10160		Rho guanine nucleotide exchange factors, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Pleckstrin homology (PH) domain containing	3591	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 75	602654			NA	9425278	Standard	NM_005766	NM_005766	NA	Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000376586.2:c.3098T>C	13.37:g.99099020T>C	ENSP00000365771:p.Phe1033Ser	NA	Q6IQ29	37		.	.	.	.	.	.	.	.	.	.	T	33	5.264139	0.95399	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	T;T	0.11495	2.77;2.77	5.45	5.45	0.79879	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.047789	0.85682	D	0.000000	T	0.28333	0.0700	L	0.50847	1.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.989;0.993	T	0.00998	-1.1486	10	0.87932	D	0	.	15.5191	0.75851	0.0:0.0:0.0:1.0	.	1002;1033	Q9Y4F1;C9JME2	FARP1_HUMAN;.	S	1033;1002	ENSP00000365771:F1033S;ENSP00000322926:F1002S	ENSP00000322926:F1002S	F	+	2	0	FARP1	97897021	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.064000	0.61679	0.454000	0.30748	TTC	FARP1-201	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000462315.1		+	ENST00000376586.2	Missense_Mutation	SNP	13 : 99099020 - 99099020 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	495	84
MBP	4155	broad.mit.edu	37	18	74700865	74700865	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74700865T>C	ENST00000397869.3	-	3	332	c.286A>G	c.(286-288)Acg>Gcg	p.T96A	MBP_ENST00000527041.1_Intron|MBP_ENST00000354542.4_Intron|MBP_ENST00000359645.3_Missense_Mutation_p.T122A|MBP_ENST00000528160.1_Intron|MBP_ENST00000397865.5_Missense_Mutation_p.T96A|MBP_ENST00000355994.2_Missense_Mutation_p.T229A|MBP_ENST00000580402.1_Missense_Mutation_p.T229A|MBP_ENST00000526111.1_Missense_Mutation_p.T74A|MBP_ENST00000382582.3_Missense_Mutation_p.T122A|MBP_ENST00000579129.1_Missense_Mutation_p.T229A|MBP_ENST00000397866.4_Missense_Mutation_p.T96A|MBP_ENST00000578193.1_Missense_Mutation_p.T96A|MBP_ENST00000397875.3_Missense_Mutation_p.T106A			P02686	MBP_HUMAN	myelin basic protein	229					central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)		GTGCGAGGCGTCACCTGGAAA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(17;72 1131 19392)							NA				0													108	117	114			NA	NA	18		NA											NA				74700865		2203	4300	6503	SO:0001583	missense				CCDS12011.1, CCDS32847.1, CCDS42448.1, CCDS42449.1, CCDS42450.1	18q23	2008-08-01			ENSG00000197971	ENSG00000197971	4155	4155			6925	protein-coding gene	gene with protein product		159430			NA	2425357	Standard	NM_001025081	XM_005266699	NA	Approved		uc010xfd.2	P02686	OTTHUMG00000132874	ENST00000397869.3:c.286A>G	18.37:g.74700865T>C	ENSP00000380967:p.Thr96Ala	NA	A4FU54|A6NI84|A8MY86|A8MYL4|B3KY66|B7ZKS2|B7ZKS4|Q15337|Q15338|Q15339|Q15340|Q59GX3|Q65ZS4|Q6AI64|Q6FH37|Q6FI04|Q6PK23	37		.	.	.	.	.	.	.	.	.	.	T	18.35	3.604648	0.66445	.	.	ENSG00000197971	ENST00000382582;ENST00000355994;ENST00000397875;ENST00000397866;ENST00000397865;ENST00000359645;ENST00000397869;ENST00000526111;ENST00000397868;ENST00000447114	.	.	.	4.34	3.1	0.35709	.	0.350057	0.26213	N	0.025670	T	0.53642	0.1809	L	0.40543	1.245	0.32076	N	0.593799	P;D;P;B;B	0.63046	0.804;0.992;0.544;0.199;0.199	P;D;B;B;B	0.76071	0.625;0.987;0.133;0.193;0.193	T	0.60005	-0.7347	9	0.72032	D	0.01	.	6.6358	0.22881	0.2966:0.0:0.0:0.7034	.	96;229;96;122;122	B7Z3Y6;P02686;P02686-6;P02686-4;P02686-3	.;MBP_HUMAN;.;.;.	A	122;229;106;96;96;122;96;74;96;40	.	ENSP00000348273:T229A	T	-	1	0	MBP	72829853	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.776000	0.47709	1.832000	0.53329	0.482000	0.46254	ACG	MBP-024	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000267964.1		-	ENST00000397869.3	Missense_Mutation	SNP	18 : 74700865 - 74700865 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	899	140
PLK1	5347	broad.mit.edu	37	16	23693421	23693421	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23693421T>G	ENST00000300093.4	+	4	870	c.759T>G	c.(757-759)acT>acG	p.T253T		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	253	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		CTTTTGAGACTTCTTGCCTAA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(12;240 564 27038 33155)							NA				0													147	136	140			NA	NA	16		NA											NA				23693421		2197	4300	6497	SO:0001819	synonymous_variant				CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851	5347	5347			9077	protein-coding gene	gene with protein product		602098	polo-like kinase (Drosophila)	PLK	NA	8127874	Standard	NM_005030	NM_005030	NA	Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.759T>G	16.37:g.23693421T>G		NA	Q15153|Q99746	37	CCDS10616.1																																																																																			PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214057.2		+	ENST00000300093.4	Silent	SNP	16 : 23693421 - 23693421 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	534	26
PMS1	5378	broad.mit.edu	37	2	190728551	190728551	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190728551C>T	ENST00000441310.2	+	10	2172	c.1939C>T	c.(1939-1941)Cta>Tta	p.L647L	PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000409823.3_Silent_p.L608L|PMS1_ENST00000447232.2_Intron|PMS1_ENST00000418224.3_Silent_p.L471L|PMS1_ENST00000432292.3_Silent_p.L471L	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	647					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			ACAAATGTCACTAAAAGATGG	0.358		NA	Mis, N			colorectal, endometrial, ovarian		Direct reversal of damage;Mismatch excision repair (MMR)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)		E	0													113	123	119			NA	NA	2		NA											NA				190728551		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933	NA	5378			9121	protein-coding gene	gene with protein product		600258	postmeiotic segregation increased (S. cerevisiae) 1	PMSL1	NA	8072530	Standard		NM_000534	NA	Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.1939C>T	2.37:g.190728551C>T		NA	D3DPI1	37	CCDS2302.1																																																																																			PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255918.2		+	ENST00000441310.2	Silent	SNP	2 : 190728551 - 190728551 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	688	178
CCDC142	84865	broad.mit.edu	37	2	74702391	74702391	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74702391G>A	ENST00000393965.3	-	7	2153	c.1757C>T	c.(1756-1758)gCc>gTc	p.A586V	CCDC142_ENST00000290418.4_Missense_Mutation_p.A579V	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	586										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						GTCAAGCCAGGCACCCACGAT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	92	91			NA	NA	2		NA											NA				74702391		2203	4300	6503	SO:0001583	missense			AK075543	CCDS1945.1	2p13.1	2008-02-05			ENSG00000135637	ENSG00000135637	84865	84865			25889	protein-coding gene	gene with protein product					NA		Standard	NM_032779	NM_032779	NA	Approved	FLJ14397	uc002slq.3	Q17RM4	OTTHUMG00000129962	ENST00000393965.3:c.1757C>T	2.37:g.74702391G>A	ENSP00000377537:p.Ala586Val	NA	B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	37		.	.	.	.	.	.	.	.	.	.	G	18.84	3.709332	0.68615	.	.	ENSG00000135637	ENST00000393965;ENST00000290418	T;T	0.57273	0.41;0.41	4.74	4.74	0.60224	.	0.000000	0.64402	D	0.000001	T	0.69993	0.3173	M	0.72118	2.19	0.43652	D	0.996062	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.73078	-0.4096	10	0.72032	D	0.01	-10.8696	13.081	0.59114	0.0:0.0:1.0:0.0	.	586;579;586	Q17RM4;Q17RM4-2;Q17RM4-3	CC142_HUMAN;.;.	V	586;579	ENSP00000377537:A586V;ENSP00000290418:A579V	ENSP00000290418:A579V	A	-	2	0	CCDC142	74555899	1.000000	0.71417	1.000000	0.80357	0.544000	0.35116	6.209000	0.72171	2.472000	0.83506	0.467000	0.42956	GCC	CCDC142-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000328391.1		-	ENST00000393965.3	Missense_Mutation	SNP	2 : 74702391 - 74702391 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	752	36
CLN8	2055	broad.mit.edu	37	8	1719499	1719499	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:1719499C>T	ENST00000331222.4	+	2	526	c.279C>T	c.(277-279)gcC>gcT	p.A93A		NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	93	TLC.				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		TGCTGCATGCCGACAAGGCGC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(155;338 1942 6138 10888 50612)							NA				0								C		1,4405	2.1+/-5.4	0,1,2202	97	89	91		279	-10.1	0	8		91	0,8600		0,0,4300	no	coding-synonymous	CLN8	NM_018941.3		0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077		93/287	1719499	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF123761	CCDS5956.1	8p23.3	2014-09-17			ENSG00000182372	ENSG00000182372	2055	2055			2079	protein-coding gene	gene with protein product		607837	chromosome 8 open reading frame 61	EPMR, C8orf61	NA	10508524	Standard	NM_018941	NM_018941	NA	Approved	FLJ39417	uc003wpo.4	Q9UBY8	OTTHUMG00000090343	ENST00000331222.4:c.279C>T	8.37:g.1719499C>T		NA	Q86U71|Q96I95	37	CCDS5956.1																																																																																			CLN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206715.2		+	ENST00000331222.4	Silent	SNP	8 : 1719499 - 1719499 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	491	46
MAP7D2	256714	broad.mit.edu	37	X	20074873	20074873	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:20074873G>A	ENST00000379651.3	-	4	427	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	MAP7D2_ENST00000452324.3_Missense_Mutation_p.R93C|MAP7D2_ENST00000379643.5_Missense_Mutation_p.R137C|MAP7D2_ENST00000543767.1_Missense_Mutation_p.R8C|MAP7D2_ENST00000443379.3_Missense_Mutation_p.R137C	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	137										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						TGCTGTGTGCGCTCCAGGGAC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	70	80			NA	NA	X		NA											NA				20074873		2203	4300	6503	SO:0001583	missense			BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368	256714	256714			25899	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152780	NM_152780	NA	Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.409C>T	X.37:g.20074873G>A	ENSP00000368972:p.Arg137Cys	NA	B9EGC7|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	37	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426952	0.43122	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000452324;ENST00000330274	T;T;T;T;T	0.12774	2.65;2.65;3.04;2.65;2.65	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000003	T	0.39517	0.1081	M	0.72479	2.2	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.92;0.963;0.963;0.999;0.92;0.963	T	0.23440	-1.0188	10	0.87932	D	0	-9.6776	18.3055	0.90179	0.0:0.0:1.0:0.0	.	137;93;137;137;137;8	B7Z3S7;C9JYW0;Q96T17-2;B5ME62;Q96T17;F5GYC2	.;.;.;.;MA7D2_HUMAN;.	C	137;137;8;137;93;137	ENSP00000368972:R137C;ENSP00000368964:R137C;ENSP00000440691:R8C;ENSP00000388239:R137C;ENSP00000413301:R93C	ENSP00000332677:R137C	R	-	1	0	MAP7D2	19984794	1.000000	0.71417	0.729000	0.30791	0.238000	0.25445	5.118000	0.64673	2.349000	0.79799	0.506000	0.49869	CGC	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056001.1		-	ENST00000379651.3	Missense_Mutation	SNP	X : 20074873 - 20074873 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	246	67
CLK1	1195	broad.mit.edu	37	2	201722796	201722796	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201722796C>A	ENST00000434813.2	-	6	1025	c.691G>T	c.(691-693)Gca>Tca	p.A231S	CLK1_ENST00000409769.2_Missense_Mutation_p.A12S|CLK1_ENST00000321356.4_Missense_Mutation_p.A189S	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	189	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						ATTTTTACTGCTACATGTCTA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	146	149			NA	NA	2		NA											NA				201722796		2203	4300	6503	SO:0001583	missense			L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441	1195	1195		CDC-like kinases	2068	protein-coding gene	gene with protein product		601951			NA	9856501	Standard		NM_004071	NA	Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000434813.2:c.691G>T	2.37:g.201722796C>A	ENSP00000394734:p.Ala231Ser	NA	Q0P694|Q8N5V8	37	CCDS54427.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780641	0.90195	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	T;T;T	0.56275	0.47;0.47;0.47	5.6	4.69	0.59074	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79811	0.4510	H	0.95004	3.61	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.85491	0.1185	10	0.87932	D	0	.	15.5631	0.76266	0.1385:0.8615:0.0:0.0	.	231;159;189;12	B4DFW7;E9PH13;P49759;B8ZZR0	.;.;CLK1_HUMAN;.	S	189;159;12;231	ENSP00000326830:A189S;ENSP00000386358:A12S;ENSP00000394734:A231S	ENSP00000326830:A189S	A	-	1	0	CLK1	201431041	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.626000	0.88956	0.563000	0.77884	GCA	CLK1-007	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336140.1		-	ENST00000434813.2	Missense_Mutation	SNP	2 : 201722796 - 201722796 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	535	75
ZNF526	116115	broad.mit.edu	37	19	42729326	42729326	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42729326C>T	ENST00000301215.3	+	3	996	c.771C>T	c.(769-771)gtC>gtT	p.V257V		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				TGGCAGAGGTCGGTGATGATG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	67	87			NA	NA	19		NA											NA				42729326		2202	4300	6502	SO:0001819	synonymous_variant			AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625	116115	116115		Zinc fingers, C2H2-type	29415	protein-coding gene	gene with protein product		614387			NA	11853319	Standard	XM_057401	NM_133444	NA	Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.771C>T	19.37:g.42729326C>T		NA	B3KV29|Q69YI2|Q96E24	37	CCDS12598.1																																																																																			ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463681.2		+	ENST00000301215.3	Silent	SNP	19 : 42729326 - 42729326 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	59
GDAP2	54834	broad.mit.edu	37	1	118441693	118441693	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118441693G>T	ENST00000369443.5	-	7	1031	c.782C>A	c.(781-783)cCt>cAt	p.P261H	GDAP2_ENST00000369442.3_Missense_Mutation_p.P261H|GDAP2_ENST00000464026.1_5'UTR	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	NA										kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		TGGAGCACCAGGTTTCTCACT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	156	156			NA	NA	1		NA											NA				118441693		2203	4300	6503	SO:0001583	missense			AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505	54834	54834			18010	protein-coding gene	gene with protein product					NA	1021725	Standard	NM_017686	NM_017686	NA	Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.782C>A	1.37:g.118441693G>T	ENSP00000358451:p.Pro261His	NA	Q96DZ0	37	CCDS897.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566958	0.65651	.	.	ENSG00000196505	ENST00000369443;ENST00000369442	T;T	0.40476	1.3;1.03	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.65101	0.2659	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.69709	-0.5072	10	0.87932	D	0	-14.751	19.6366	0.95736	0.0:0.0:1.0:0.0	.	261;261	Q9NXN4-2;Q9NXN4	.;GDAP2_HUMAN	H	261	ENSP00000358451:P261H;ENSP00000358450:P261H	ENSP00000358450:P261H	P	-	2	0	GDAP2	118243216	1.000000	0.71417	1.000000	0.80357	0.271000	0.26615	9.046000	0.93817	2.643000	0.89663	0.585000	0.79938	CCT	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033732.2		-	ENST00000369443.5	Missense_Mutation	SNP	1 : 118441693 - 118441693 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	756	73
SI	6476	broad.mit.edu	37	3	164735363	164735363	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164735363G>A	ENST00000264382.3	-	31	3794	c.3732C>T	c.(3730-3732)gaC>gaT	p.D1244D		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1244	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CCACCATAGCGTCATATAATT	0.348		NA								HNSCC(35;0.089)			G	1	5e-04	NA	0.0028	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.876	EXOME	NA	NA	7e-04	SNP								NA				0													64	61	62			NA	NA	3		NA											NA				164735363		2203	4298	6501	SO:0001819	synonymous_variant			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	6476	6476	3.2.1.10		10856	protein-coding gene	gene with protein product	Oligosaccharide alpha-1,6-glucosidase	609845	sucrase-isomaltase		NA	2962903, 1353958	Standard	NM_001041	NM_001041	NA	Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3732C>T	3.37:g.164735363G>A		NA	A2RUC3|Q1JQ80|Q1RMC2	37	CCDS3196.1																																																																																			SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350116.1		-	ENST00000264382.3	Silent	SNP	3 : 164735363 - 164735363 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	33
CHAD	1101	broad.mit.edu	37	17	48545740	48545740	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48545740C>T	ENST00000508540.1	-	1	587	c.435G>A	c.(433-435)ccG>ccA	p.P145P	ACSF2_ENST00000506085.1_3'UTR|ACSF2_ENST00000504392.1_Intron|CHAD_ENST00000258969.4_Silent_p.P145P|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000502667.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	145					regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GGTTGACCAGCGGGGAGAGCA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	41	42			NA	NA	17		NA											NA				48545740		2203	4300	6503	SO:0001819	synonymous_variant			U96767	CCDS11568.1	17q21.33	2008-02-05			ENSG00000136457	ENSG00000136457	1101	1101		Proteoglycans / Extracellular Matrix : Small leucine-rich repeats	1909	protein-coding gene	gene with protein product	chondroadherin proteoglycan	602178			NA	9344663	Standard	NM_001267	NM_001267	NA	Approved	SLRR4A	uc010dbr.3	O15335	OTTHUMG00000162129	ENST00000508540.1:c.435G>A	17.37:g.48545740C>T		NA	A8K812|Q6GTU0|Q96RJ5	37	CCDS11568.1																																																																																			CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367447.3		-	ENST00000508540.1	Silent	SNP	17 : 48545740 - 48545740 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	402	62
FDFT1	2222	broad.mit.edu	37	8	11660380	11660380	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11660380C>A	ENST00000525900.1	+	1	106	c.39C>A	c.(37-39)ttC>ttA	p.F13L	FDFT1_ENST00000220584.4_Missense_Mutation_p.F13L|FDFT1_ENST00000443614.2_Missense_Mutation_p.F13L|FDFT1_ENST00000538689.1_Intron|FDFT1_ENST00000446331.2_3'UTR			P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	13					cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		CCGAAGAGTTCTACAACCTGG	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	39	42			NA	NA	8		NA											NA				11660380		2203	4300	6503	SO:0001583	missense			X69141	CCDS5985.1, CCDS75696.1, CCDS75697.1	8p23.1-p22	2005-03-07			ENSG00000079459	ENSG00000079459	2222	2222	2.5.1.21		3629	protein-coding gene	gene with protein product	squalene synthase	184420			NA		Standard		NM_001287742	NA	Approved		uc003wui.3	P37268	OTTHUMG00000090801	ENST00000525900.1:c.39C>A	8.37:g.11660380C>A	ENSP00000434714:p.Phe13Leu	NA	Q96GT0	37		.	.	.	.	.	.	.	.	.	.	C	15.65	2.896273	0.52121	.	.	ENSG00000079459	ENST00000530337;ENST00000220584;ENST00000443614;ENST00000525900	T;T;T;T	0.35236	1.32;1.89;1.86;1.87	5.04	4.17	0.49024	.	0.183845	0.45867	D	0.000328	T	0.17323	0.0416	N	0.16478	0.41	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.09378	-1.0677	10	0.02654	T	1	-27.1942	8.0589	0.30621	0.1569:0.7621:0.0:0.081	.	13;13;13	B4DJE5;E9PNM1;P37268	.;.;FDFT_HUMAN	L	13	ENSP00000431852:F13L;ENSP00000220584:F13L;ENSP00000390367:F13L;ENSP00000434714:F13L	ENSP00000220584:F13L	F	+	3	2	FDFT1	11697789	0.997000	0.39634	1.000000	0.80357	0.931000	0.56810	0.312000	0.19397	1.266000	0.44231	0.485000	0.47835	TTC	FDFT1-006	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000383672.1		+	ENST00000525900.1	Missense_Mutation	SNP	8 : 11660380 - 11660380 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	109	28
GNPTAB	79158	broad.mit.edu	37	12	102158045	102158045	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102158045A>G	ENST00000299314.7	-	13	2912	c.2650T>C	c.(2650-2652)Tac>Cac	p.Y884H		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	884					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						CTATCTGTGTAATGCTGCAGC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													290	281	284			NA	NA	12		NA											NA				102158045		2203	4300	6503	SO:0001583	missense			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670	79158	79158		EF-hand domain containing	29670	protein-coding gene	gene with protein product		607840		GNPTA	NA	10574462, 16116615	Standard		NM_024312	NA	Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.2650T>C	12.37:g.102158045A>G	ENSP00000299314:p.Tyr884His	NA	A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	37	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.806642	0.50421	.	.	ENSG00000111670	ENST00000299314	D	0.96554	-4.05	5.62	0.515	0.17013	.	0.377659	0.31082	N	0.008299	D	0.92763	0.7699	L	0.59436	1.845	0.09310	N	0.999995	B	0.11235	0.004	B	0.12156	0.007	D	0.84408	0.0564	10	0.42905	T	0.14	-2.6504	5.9361	0.19167	0.6673:0.1281:0.2045:0.0	.	884	Q3T906	GNPTA_HUMAN	H	884	ENSP00000299314:Y884H	ENSP00000299314:Y884H	Y	-	1	0	GNPTAB	100682176	0.839000	0.29477	0.000000	0.03702	0.685000	0.39939	3.055000	0.49916	-0.135000	0.11495	0.533000	0.62120	TAC	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409182.1		-	ENST00000299314.7	Missense_Mutation	SNP	12 : 102158045 - 102158045 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1274	252
NCOA3	8202	broad.mit.edu	37	20	46252654	46252654	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46252654G>T	ENST00000372004.3	+	4	299		c.e4-1		NCOA3_ENST00000371997.3_Splice_Site|NCOA3_ENST00000341724.6_Splice_Site|NCOA3_ENST00000371998.3_Splice_Site	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	NA					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TTTTCCCTTAGTCTTACCTGC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	63	62			NA	NA	20		NA											NA				46252654		2203	4300	6503	SO:0001630	splice_region_variant			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151	8202	8202		Chromatin-modifying enzymes / K-acetyltransferases, Basic helix-loop-helix proteins	7670	protein-coding gene	gene with protein product	receptor-associated coactivator 3, thyroid hormone receptor activator molecule 1	601937			NA	9252329, 9346901	Standard	NM_006534	NM_181659	NA	Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000372004.3:c.84-1G>T	20.37:g.46252654G>T		NA	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	37	CCDS13406.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320843	0.23994	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NCOA3	45686061	1.000000	0.71417	0.992000	0.48379	0.138000	0.21146	7.235000	0.78143	2.937000	0.99478	0.650000	0.86243	.	NCOA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080403.3	Intron	+	ENST00000372004.3	Splice_Site	SNP	20 : 46252654 - 46252654 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	233	32
ZFC3H1	196441	broad.mit.edu	37	12	72026135	72026135	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72026135C>T	ENST00000378743.3	-	15	3335	c.2977G>A	c.(2977-2979)Gaa>Aaa	p.E993K		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	993					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTTTGTTGTTCCTTTGCTTTA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	155	156			NA	NA	12		NA											NA				72026135		1831	4078	5909	SO:0001583	missense			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858	196441	196441		Zinc finger, C3H1-type containing	28328	protein-coding gene	gene with protein product			proline/serine-rich coiled-coil 2, coiled-coil domain containing 131	PSRC2, CCDC131	NA	9628581	Standard	NM_144982	NM_144982	NA	Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.2977G>A	12.37:g.72026135C>T	ENSP00000368017:p.Glu993Lys	NA	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	37	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.484524	0.63962	.	.	ENSG00000133858	ENST00000378743	T	0.33438	1.41	5.87	5.87	0.94306	.	0.062950	0.64402	D	0.000007	T	0.27900	0.0687	N	0.24115	0.695	0.80722	D	1	P	0.40970	0.734	B	0.40165	0.321	T	0.02339	-1.1174	10	0.49607	T	0.09	.	20.1793	0.98193	0.0:1.0:0.0:0.0	.	993	O60293	ZC3H1_HUMAN	K	993	ENSP00000368017:E993K	ENSP00000368017:E993K	E	-	1	0	ZFC3H1	70312402	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.705000	0.54823	2.779000	0.95612	0.585000	0.79938	GAA	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404751.1		-	ENST00000378743.3	Missense_Mutation	SNP	12 : 72026135 - 72026135 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1016	192
HAUS5	23354	broad.mit.edu	37	19	36109792	36109792	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36109792G>T	ENST00000203166.5	+	13	1045	c.1020G>T	c.(1018-1020)caG>caT	p.Q340H	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	340					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CCTGCAGGCAGGTGCTGATAC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	47	47			NA	NA	19		NA											NA				36109792		2068	4215	6283	SO:0001583	missense			AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115	23354	23354		HAUS augmin-like complex subunits	29130	protein-coding gene	gene with protein product		613432	KIAA0841	KIAA0841	NA	10048485, 19427217	Standard		NM_015302	NA	Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.1020G>T	19.37:g.36109792G>T	ENSP00000439056:p.Gln340His	NA	B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	37	CCDS42550.1	.	.	.	.	.	.	.	.	.	.	G	9.747	1.166373	0.21621	.	.	ENSG00000249115	ENST00000203166	T	0.30981	1.51	5.6	0.544	0.17185	.	0.532571	0.19741	N	0.107130	T	0.34774	0.0909	L	0.55481	1.735	0.37242	D	0.906142	P	0.44195	0.828	P	0.50617	0.646	T	0.27191	-1.0081	10	0.41790	T	0.15	-18.8135	8.1581	0.31183	0.3865:0.0:0.6135:0.0	.	340	O94927	HAUS5_HUMAN	H	340	ENSP00000439056:Q340H	ENSP00000439056:Q340H	Q	+	3	2	HAUS5	40801632	0.906000	0.30813	0.475000	0.27278	0.012000	0.07955	0.237000	0.17985	0.325000	0.23359	-0.217000	0.12591	CAG	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459055.2		+	ENST00000203166.5	Missense_Mutation	SNP	19 : 36109792 - 36109792 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	36
MIXL1	83881	broad.mit.edu	37	1	226413512	226413512	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226413512G>A	ENST00000366810.5	+	2	762	c.698G>A	c.(697-699)tGa>tAa	p.*233*	MIXL1_ENST00000557734.1_3'UTR|MIXL1_ENST00000542034.1_Silent_p.*241*			Q9H2W2	MIXL1_HUMAN	Mix paired-like homeobox	0					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		GGTAACTTTTGAGGATTCTGG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(72;1302 1881 20981 22800)							NA				0													121	118	119			NA	NA	1		NA											NA				226413512		2203	4300	6503	SO:0001819	synonymous_variant			AF211891	CCDS1552.1, CCDS60432.1	1q42.12	2011-06-20	2011-06-01		ENSG00000185155	ENSG00000185155	83881	83881		Homeoboxes / PRD class	13363	protein-coding gene	gene with protein product		609852	Mix1 homeobox (Xenopus laevis)-like 1, Mix1 homeobox-like 1 (Xenopus laevis)		NA	12095687, 12070013	Standard		NM_031944	NA	Approved	MILD1, MIXL	uc010pvm.2	Q9H2W2	OTTHUMG00000037558	ENST00000366810.5:c.698G>A	1.37:g.226413512G>A		NA		37	CCDS1552.1																																																																																			MIXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091526.3		+	ENST00000366810.5	Silent	SNP	1 : 226413512 - 226413512 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1009	26
NEB	4703	broad.mit.edu	37	2	152506868	152506868	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152506868C>T	ENST00000603639.1	-	52	7252	c.7253G>A	c.(7252-7254)tGg>tAg	p.W2418*	NEB_ENST00000409198.1_Nonsense_Mutation_p.W2418*|NEB_ENST00000397345.3_Nonsense_Mutation_p.W2418*|NEB_ENST00000604864.1_Nonsense_Mutation_p.W2418*|NEB_ENST00000172853.10_Nonsense_Mutation_p.W2418*|NEB_ENST00000427231.2_Nonsense_Mutation_p.W2418*			P20929	NEBU_HUMAN	nebulin	2418					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCCTCTCAGCCACTCAAGGTC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	75	77			NA	NA	2		NA											NA				152506868		1867	4105	5972	SO:0001587	stop_gained			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091	4703	4703			7720	protein-coding gene	gene with protein product	nemaline myopathy type 2	161650		NEM2	NA	10051637, 9359044	Standard	NM_004543	NM_001164507	NA	Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000603639.1:c.7253G>A	2.37:g.152506868C>T	ENSP00000473894:p.Trp2418*	NA	Q15346|Q53QQ2|Q53TG8	37	CCDS54407.1	.	.	.	.	.	.	.	.	.	.	C	47	13.448563	0.99742	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	.	.	.	5.37	5.37	0.77165	.	0.204094	0.43919	D	0.000503	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0099	0.64490	0.1512:0.8488:0.0:0.0	.	.	.	.	X	2418	.	ENSP00000172853:W2418X	W	-	2	0	NEB	152215114	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	0.964000	0.29306	2.527000	0.85204	0.650000	0.86243	TGG	NEB-017	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000469059.2		-	ENST00000603639.1	Nonsense_Mutation	SNP	2 : 152506868 - 152506868 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	417	63
ITGB8	3696	broad.mit.edu	37	7	20418775	20418775	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20418775G>A	ENST00000222573.4	+	4	1174	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	ITGB8_ENST00000537992.1_Missense_Mutation_p.E29K	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	NA	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CAATAATATAGAAAAATTAAA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	82	80			NA	NA	7		NA											NA				20418775		2203	4300	6503	SO:0001583	missense				CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855	3696	3696		Integrins	6163	protein-coding gene	gene with protein product		604160			NA		Standard	NM_002214	XM_005249751	NA	Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.490G>A	7.37:g.20418775G>A	ENSP00000222573:p.Glu164Lys	NA	A4D133	37	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924418	0.73213	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.97731	-4.51;-4.51	5.82	5.82	0.92795	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.071807	0.64402	D	0.000019	D	0.97851	0.9294	L	0.45698	1.435	0.38694	D	0.952837	D;D	0.63046	0.992;0.984	P;P	0.60886	0.88;0.761	D	0.98122	1.0426	10	0.37606	T	0.19	-27.1312	20.0956	0.97842	0.0:0.0:1.0:0.0	.	164;164	P26012;Q9BUG9	ITB8_HUMAN;.	K	29;164	ENSP00000441561:E29K;ENSP00000222573:E164K	ENSP00000222573:E164K	E	+	1	0	ITGB8	20385300	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.158000	0.58150	2.746000	0.94184	0.650000	0.86243	GAA	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059915.3		+	ENST00000222573.4	Missense_Mutation	SNP	7 : 20418775 - 20418775 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	52
FAM71A	149647	broad.mit.edu	37	1	212799202	212799202	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212799202C>T	ENST00000294829.3	+	1	1414	c.983C>T	c.(982-984)gCc>gTc	p.A328V	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	328	Ala-rich.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GGCAACATGGCCCTTGCAGGC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	49	48			NA	NA	1		NA											NA				212799202		2203	4300	6503	SO:0001583	missense				CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771	149647	149647			26541	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_153606	NM_153606	NA	Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.983C>T	1.37:g.212799202C>T	ENSP00000294829:p.Ala328Val	NA	Q5VTZ1	37	CCDS1507.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.422128	0.25639	.	.	ENSG00000162771	ENST00000294829;ENST00000545975	T	0.04603	3.59	3.47	1.54	0.23209	.	.	.	.	.	T	0.04227	0.0117	L	0.51422	1.61	0.09310	N	1	P	0.39809	0.689	B	0.33254	0.16	T	0.39231	-0.9624	9	0.36615	T	0.2	-4.0201	3.9602	0.09407	0.2355:0.6397:0.0:0.1248	.	328	Q8IYT1	FA71A_HUMAN	V	328;103	ENSP00000294829:A328V	ENSP00000294829:A328V	A	+	2	0	FAM71A	210865825	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.087000	0.14958	0.431000	0.26258	0.655000	0.94253	GCC	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000098529.1		+	ENST00000294829.3	Missense_Mutation	SNP	1 : 212799202 - 212799202 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	183	68
CTHRC1	115908	broad.mit.edu	37	8	104387965	104387965	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104387965G>A	ENST00000330295.5	+	2	292		c.e2-1		CTHRC1_ENST00000520337.1_Splice_Site|CTHRC1_ENST00000415886.2_Splice_Site	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	NA						collagen				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			TCTCATTATAGTATAATGGAA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	99	95			NA	NA	8		NA											NA				104387965		2203	4300	6503	SO:0001630	splice_region_variant			BC014245	CCDS6299.1, CCDS59110.1	8q22.3	2008-08-07			ENSG00000164932	ENSG00000164932	115908	115908			18831	protein-coding gene	gene with protein product		610635			NA	15618538	Standard	NM_138455	NM_138455	NA	Approved		uc003ylk.4	Q96CG8	OTTHUMG00000164887	ENST00000330295.5:c.151-1G>A	8.37:g.104387965G>A		NA	Q6UW91|Q8IX63	37	CCDS6299.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843455	0.71488	.	.	ENSG00000164932	ENST00000330295;ENST00000415886;ENST00000520337;ENST00000297577	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9824	0.92760	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CTHRC1	104457141	1.000000	0.71417	0.993000	0.49108	0.795000	0.44927	8.908000	0.92640	2.500000	0.84329	0.591000	0.81541	.	CTHRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380792.1	Intron	+	ENST00000330295.5	Splice_Site	SNP	8 : 104387965 - 104387965 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	753	127
AHRR	57491	broad.mit.edu	37	5	427974	427974	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:427974C>T	ENST00000316418.5	+	9	871	c.827C>T	c.(826-828)gCg>gTg	p.A276V	AHRR_ENST00000506456.1_Missense_Mutation_p.A114V|AHRR_ENST00000505113.1_Missense_Mutation_p.A258V|AHRR_ENST00000512529.1_Missense_Mutation_p.A104V	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			AAGAAGAAGGCGCCGTCAGGA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0									VAL/ALA,VAL/ALA	1,3741		0,1,1870	27	31	29		773,827	4.9	0.8	5		29	0,8202		0,0,4101	no	missense,missense	AHRR	NM_001242412.1,NM_020731.4	64,64	0,1,5971	TT,TC,CC	NA	0.0,0.0267,0.0084	possibly-damaging,possibly-damaging	258/702,276/720	427974	1,11943	1871	4101	5972	SO:0001583	missense			AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438	57491	57491		Basic helix-loop-helix proteins	346	protein-coding gene	gene with protein product		606517	aryl hydrocarbon receptor regulator	AHH, AHHR	NA	1070014, 11423533	Standard	NM_020731	NM_020731	NA	Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000316418.5:c.827C>T	5.37:g.427974C>T	ENSP00000323816:p.Ala276Val	NA	A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	37	CCDS43297.1	.	.	.	.	.	.	.	.	.	.	c	16.60	3.168850	0.57584	2.67E-4	0.0	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456	T;T;T;T	0.23950	2.2;2.2;1.88;1.88	4.88	4.88	0.63580	.	0.471757	0.24341	N	0.039375	T	0.40694	0.1127	M	0.64170	1.965	0.29623	N	0.846065	D;B;P	0.64830	0.994;0.443;0.884	P;B;B	0.53649	0.731;0.085;0.165	T	0.40079	-0.9582	10	0.59425	D	0.04	.	15.5229	0.75877	0.0:1.0:0.0:0.0	.	114;258;276	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	V	258;276;104;114	ENSP00000424601:A258V;ENSP00000323816:A276V;ENSP00000424880:A104V;ENSP00000426932:A114V	ENSP00000323816:A276V	A	+	2	0	AHRR	480974	1.000000	0.71417	0.790000	0.31976	0.452000	0.32318	5.258000	0.65479	2.244000	0.73946	0.580000	0.79431	GCG	AHRR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367719.2		+	ENST00000316418.5	Missense_Mutation	SNP	5 : 427974 - 427974 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	55
TMPO	7112	broad.mit.edu	37	12	98941365	98941365	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:98941365G>T	ENST00000556029.1	+	9	1450	c.1094G>T	c.(1093-1095)aGa>aTa	p.R365I	TMPO_ENST00000548223.1_3'UTR|TMPO_ENST00000393053.2_Missense_Mutation_p.R256I|TMPO_ENST00000343315.5_Missense_Mutation_p.R325I	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	365	Binds lamins B.|NAKAP95-binding C.|Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGTTGCCGCAGACCAATCAAA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	55	53			NA	NA	12		NA											NA				98941365		2203	4300	6503	SO:0001583	missense				CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802	7112	7112			11875	protein-coding gene	gene with protein product	LEM domain containing 4	188380			NA	7517549	Standard	NM_003276	NM_003276	NA	Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.1094G>T	12.37:g.98941365G>T	ENSP00000450627:p.Arg365Ile	NA	Q14861	37	CCDS31879.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160451	0.78226	.	.	ENSG00000120802	ENST00000556029;ENST00000343315;ENST00000393053;ENST00000556678	T;T;T;T	0.81247	-0.46;-0.54;-0.79;-1.47	5.35	5.35	0.76521	.	.	.	.	.	D	0.90103	0.6908	M	0.77820	2.39	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.80764	0.991;0.994	D	0.90623	0.4561	9	0.66056	D	0.02	.	19.4355	0.94792	0.0:0.0:1.0:0.0	.	289;365	Q59G12;P42167	.;LAP2B_HUMAN	I	365;325;256;200	ENSP00000450627:R365I;ENSP00000340251:R325I;ENSP00000376773:R256I;ENSP00000451552:R200I	ENSP00000340251:R365I	R	+	2	0	TMPO	97465496	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.512000	0.67030	2.668000	0.90789	0.655000	0.94253	AGA	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407973.2		+	ENST00000556029.1	Missense_Mutation	SNP	12 : 98941365 - 98941365 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	376	67
GEMIN4	50628	broad.mit.edu	37	17	650572	650572	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:650572G>A	ENST00000437269.1	-	3	530				GEMIN4_ENST00000576778.1_Silent_p.C226C|GEMIN4_ENST00000319004.5_Silent_p.C237C			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	NA					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CCAGCGCACAGCACTTCCTCC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	75	72			NA	NA	17		NA											NA				650572		2170	4269	6439	SO:0001627	intron_variant			AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409	50628	50628			15717	protein-coding gene	gene with protein product	HCC-associated protein 1, component of gems 4	606969			NA	10725331	Standard	NM_015721	NM_015721	NA	Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000437269.1:c.499-50C>T	17.37:g.650572G>A		NA	Q9NZS7|Q9UG32|Q9Y4Q2	37																																																																																				GEMIN4-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000437183.1		-	ENST00000437269.1	Intron	SNP	17 : 650572 - 650572 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	552	14
DSP	1832	broad.mit.edu	37	6	7582959	7582959	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7582959C>T	ENST00000379802.3	+	24	5805	c.5464C>T	c.(5464-5466)Ctg>Ttg	p.L1822L	DSP_ENST00000418664.2_Silent_p.L1223L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1822	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AATCAAAGTCCTGGAGCAAGA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	125	123			NA	NA	6		NA											NA				7582959		2203	4300	6503	SO:0001819	synonymous_variant			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696	1832	1832			3052	protein-coding gene	gene with protein product		125647	desmoplakin (DPI, DPII)		NA	1889810	Standard	NM_004415	NM_004415	NA	Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.5464C>T	6.37:g.7582959C>T		NA	B2RTT2|O75993|Q14189|Q9UHN4	37	CCDS4501.1																																																																																			DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039786.2		+	ENST00000379802.3	Silent	SNP	6 : 7582959 - 7582959 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	713	123
SYNE2	23224	broad.mit.edu	37	14	64532268	64532268	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64532268C>T	ENST00000554584.1	+	51	10481	c.10430C>T	c.(10429-10431)tCg>tTg	p.S3477L	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.S3444L|SYNE2_ENST00000358025.3_Missense_Mutation_p.S3444L|SYNE2_ENST00000555002.1_Missense_Mutation_p.S78L			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3444					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.S3444L(1)|p.S3444>?(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGATTGTGTCGGCTCTGTGG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(1)|Complex(1)	kidney(2)						C	LEU/SER,LEU/SER	1,3939		0,1,1969	168	165	166		10331,10331	1.7	0	14		166	0,8344		0,0,4172	no	missense,missense	SYNE2	NM_015180.4,NM_182914.2	145,145	0,1,6141	TT,TC,CC	NA	0.0,0.0254,0.0081	benign,benign	3444/6886,3444/6908	64532268	1,12283	1970	4172	6142	SO:0001583	missense			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654	23224	23224			17084	protein-coding gene	gene with protein product	nuclear envelope spectrin repeat-2, nucleus and actin connecting element	608442			NA	10231032, 10878022	Standard	NM_182914	NM_182910	NA	Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000554584.1:c.10430C>T	14.37:g.64532268C>T	ENSP00000452570:p.Ser3477Leu	NA	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	37		.	.	.	.	.	.	.	.	.	.	C	9.264	1.043958	0.19748	2.54E-4	0.0	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002	T;T;T;T	0.51325	1.3;0.71;1.3;4.09	5.61	1.7	0.24286	.	0.592105	0.15399	N	0.264435	T	0.28300	0.0699	N	0.19112	0.55	0.09310	N	0.999997	B;B	0.18741	0.017;0.03	B;B	0.12156	0.003;0.007	T	0.15263	-1.0443	10	0.34782	T	0.22	.	6.4274	0.21778	0.0:0.5589:0.2442:0.1969	.	3444;3444	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	L	3444;3444;3477;3477;78	ENSP00000350719:S3444L;ENSP00000341781:S3444L;ENSP00000452570:S3477L;ENSP00000450831:S78L	ENSP00000261678:S3477L	S	+	2	0	SYNE2	63602021	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	0.058000	0.14301	0.107000	0.17824	-0.145000	0.13849	TCG	SYNE2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000411905.1		+	ENST00000554584.1	Missense_Mutation	SNP	14 : 64532268 - 64532268 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	321	74
HECW1	23072	broad.mit.edu	37	7	43590119	43590119	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43590119C>T	ENST00000453890.1	+	25	4546	c.4222C>T	c.(4222-4224)Cgc>Tgc	p.R1408C	HECW1_ENST00000395891.2_Missense_Mutation_p.R1442C			Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1442	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GTACATCGAGCGCATGGTGAA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746	23072	23072			22195	protein-coding gene	gene with protein product		610384			NA	12690205, 14684739	Standard	NM_015052	XM_005249665	NA	Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000453890.1:c.4222C>T	7.37:g.43590119C>T	ENSP00000407774:p.Arg1408Cys	NA	A7E2X0|A8MYS3|O15036|Q9HCC7	37		.	.	.	.	.	.	.	.	.	.	C	21.0	4.086304	0.76642	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.59224	0.28;0.28	5.62	1.73	0.24493	HECT (4);	0.048274	0.85682	D	0.000000	T	0.71178	0.3309	M	0.65677	2.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71870	0.975;0.969	T	0.74025	-0.3797	10	0.87932	D	0	.	13.675	0.62449	0.5785:0.4215:0.0:0.0	.	1408;1442	B4DH42;Q76N89	.;HECW1_HUMAN	C	1442;1408;1442	ENSP00000379228:R1442C;ENSP00000407774:R1408C	ENSP00000265522:R1442C	R	+	1	0	HECW1	43556644	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.693000	0.37742	0.383000	0.24910	-0.274000	0.10170	CGC	HECW1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000338775.1		+	ENST00000453890.1	Missense_Mutation	SNP	7 : 43590119 - 43590119 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	140	20
MYPN	84665	broad.mit.edu	37	10	69926239	69926239	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:69926239C>T	ENST00000358913.5	+	10	2277	c.1789C>T	c.(1789-1791)Cgt>Tgt	p.R597C	MYPN_ENST00000540630.1_Missense_Mutation_p.R597C|MYPN_ENST00000354393.2_Missense_Mutation_p.R322C	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	597						nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GATTGGGCTTCGTGTGCACTT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	73	63	66		1789	5.3	1	10		66	0,8600		0,0,4300	no	missense	MYPN	NM_032578.2	180	0,2,6501	TT,TC,CC	NA	0.0,0.0454,0.0154	probably-damaging	597/1321	69926239	2,13004	2203	4300	6503	SO:0001583	missense			AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347	84665	84665		Immunoglobulin superfamily / I-set domain containing	23246	protein-coding gene	gene with protein product	sarcomeric protein myopalladin, 145 kDa	608517			NA	11309420, 12482578	Standard	NM_032578	NM_032578	NA	Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.1789C>T	10.37:g.69926239C>T	ENSP00000351790:p.Arg597Cys	NA	Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	37	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386227	0.82902	4.54E-4	0.0	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.59364	0.27;0.29;0.27	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.70675	0.3251	M	0.62723	1.935	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	P;D;P	0.66196	0.897;0.942;0.877	T	0.70528	-0.4847	9	.	.	.	.	13.8632	0.63573	0.1526:0.8474:0.0:0.0	.	597;322;597	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	C	322;322;597;597	ENSP00000346369:R322C;ENSP00000351790:R597C;ENSP00000441668:R597C	.	R	+	1	0	MYPN	69596245	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.080000	0.57620	2.455000	0.83008	0.655000	0.94253	CGT	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048307.1		+	ENST00000358913.5	Missense_Mutation	SNP	10 : 69926239 - 69926239 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	277	62
ZNF394	84124	broad.mit.edu	37	7	99097579	99097579	+	Silent	SNP	G	G	A	rs142631169	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99097579G>A	ENST00000426306.2	-	1	308	c.138C>T	c.(136-138)ccC>ccT	p.P46P	ZNF394_ENST00000394177.3_Intron|ZNF394_ENST00000337673.6_Silent_p.P46P|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron			Q53GI3	ZN394_HUMAN	zinc finger protein 394	46					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CCCAACTTCCGGGTGAGTCTT	0.637		NA											G	2	9e-04	0.002	NA	2184	NA	0.999	,	,	NA	4e-04	0.0013	NA	NA	0.0012	0.7078	LOWCOV	NA	NA	0.001	SNP	Ovarian(24;589 697 9939 12704 40742)							NA				0													51	52	52			NA	NA	7		NA											NA				99097579		2203	4300	6503	SO:0001819	synonymous_variant			BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908	84124	84124		Zinc fingers, C2H2-type, -, -, -	18832	protein-coding gene	gene with protein product					NA		Standard	NM_032164	NM_032164	NA	Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000426306.2:c.138C>T	7.37:g.99097579G>A		NA	A4D281|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	37																																																																																				ZNF394-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000336499.1		-	ENST00000426306.2	Silent	SNP	7 : 99097579 - 99097579 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	430	76
ARID1B	57492	broad.mit.edu	37	6	157522258	157522258	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:157522258C>T	ENST00000346085.5	+	18	4531	c.4530C>T	c.(4528-4530)agC>agT	p.S1510S	ARID1B_ENST00000275248.4_Silent_p.S1492S|ARID1B_ENST00000367148.1_Silent_p.S1550S|ARID1B_ENST00000350026.5_Silent_p.S1497S	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1497	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ATCATGAGAGCCAGTGGCCTT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	145	148			NA	NA	6		NA											NA				157522258		2203	4296	6499	SO:0001819	synonymous_variant			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618	57492	57492		-	18040	protein-coding gene	gene with protein product		614556			NA		Standard	NM_020732	NM_017519	NA	Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000346085.5:c.4530C>T	6.37:g.157522258C>T		NA	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	37	CCDS55072.1																																																																																			ARID1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042827.3		+	ENST00000346085.5	Silent	SNP	6 : 157522258 - 157522258 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	621	115
BTNL8	79908	broad.mit.edu	37	5	180377192	180377192	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180377192G>A	ENST00000340184.4	+	8	1357	c.1151G>A	c.(1150-1152)gGa>gAa	p.G384E	BTNL8_ENST00000400707.3_Missense_Mutation_p.G259E|BTNL8_ENST00000533815.2_Missense_Mutation_p.G200E|BTNL8_ENST00000511704.1_Missense_Mutation_p.G268E|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000505126.1_Missense_Mutation_p.G177E|BTNL8_ENST00000508408.1_3'UTR	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	384	B30.2/SPRY.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGACTGAATGGAGAACATTTG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	125	128			NA	NA	5		NA											NA				180377192		2061	3871	5932	SO:0001583	missense			AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303	79908	79908		Immunoglobulin superfamily / V-set domain containing, Butyrophilins	26131	protein-coding gene	gene with protein product		615606			NA	12975309	Standard	NM_024850	NM_024850	NA	Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.1151G>A	5.37:g.180377192G>A	ENSP00000342197:p.Gly384Glu	NA	Q9H730	37	CCDS43413.1	.	.	.	.	.	.	.	.	.	.	G	0.038	-1.296925	0.01364	.	.	ENSG00000113303	ENST00000340184;ENST00000400707;ENST00000511704;ENST00000505126;ENST00000533815	T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05	1.89	-3.78	0.04333	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.33440	0.0863	N	0.13098	0.295	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.11329	0.0;0.0;0.006	T	0.06127	-1.0844	9	0.11485	T	0.65	.	2.5575	0.04764	0.3517:0.1419:0.3936:0.1128	.	259;268;384	E9PG07;E9PEF6;Q6UX41	.;.;BTNL8_HUMAN	E	384;259;268;177;200	ENSP00000342197:G384E;ENSP00000383543:G259E;ENSP00000425207:G268E;ENSP00000427441:G177E;ENSP00000435098:G200E	ENSP00000342197:G384E	G	+	2	0	BTNL8	180309798	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.449000	0.06812	-3.895000	0.00094	-2.987000	0.00079	GGA	BTNL8-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368440.1		+	ENST00000340184.4	Missense_Mutation	SNP	5 : 180377192 - 180377192 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	414	108
BIRC6	57448	broad.mit.edu	37	2	32740700	32740700	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32740700G>A	ENST00000421745.2	+	55	11346	c.11212G>A	c.(11212-11214)Gca>Aca	p.A3738T		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3738					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACAGACCAGTGCAAGATCAGC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(94;175 1509 16028 18060 45422)							NA				0													101	94	96			NA	NA	2		NA											NA				32740700		2203	4300	6503	SO:0001583	missense			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760	57448	57448		Baculoviral IAP repeat containing, Ubiquitin-conjugating enzymes E2	13516	protein-coding gene	gene with protein product	apollon	605638	baculoviral IAP repeat-containing 6		NA	10544019	Standard	NM_016252	NM_016252	NA	Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.11212G>A	2.37:g.32740700G>A	ENSP00000393596:p.Ala3738Thr	NA	Q9ULD1	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.777582	0.00640	.	.	ENSG00000115760	ENST00000421745	T	0.74421	-0.84	5.5	-1.67	0.08238	.	0.665993	0.14546	N	0.312976	T	0.58708	0.2141	L	0.44542	1.39	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.40421	-0.9564	10	0.24483	T	0.36	.	6.0668	0.19868	0.4489:0.0:0.4343:0.1168	.	3738	Q9NR09	BIRC6_HUMAN	T	3738	ENSP00000393596:A3738T	ENSP00000393596:A3738T	A	+	1	0	BIRC6	32594204	0.999000	0.42202	0.016000	0.15963	0.164000	0.22412	0.596000	0.24044	-0.365000	0.08076	-0.224000	0.12420	GCA	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318769.3		+	ENST00000421745.2	Missense_Mutation	SNP	2 : 32740700 - 32740700 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	472	64
TTC4	7268	broad.mit.edu	37	1	55194081	55194081	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55194081T>C	ENST00000371284.5	+	0	823				TTC4_ENST00000371281.3_Silent_p.N219N|MROH7-TTC4_ENST00000414150.2_3'UTR			O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	NA							binding			breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						GGAATCAGAATGAGGCTTTAC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	121	120			NA	NA	1		NA											NA				55194081		2203	4300	6503	SO:0001624	3_prime_UTR_variant				CCDS596.1	1p32	2013-01-11			ENSG00000243725	ENSG00000243725	7268	7268		Tetratricopeptide (TTC) repeat domain containing	12394	protein-coding gene	gene with protein product		606753			NA	9933562	Standard	NM_004623	NM_004623	NA	Approved	MGC5097, FLJ41930	uc001cxx.4	O95801	OTTHUMG00000009914	ENST00000371284.5:c.*820T>C	1.37:g.55194081T>C		NA	Q53Y95|Q5TA96|Q9H3I2	37																																																																																				TTC4-002	KNOWN	non_canonical_TEC|basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000027433.2		+	ENST00000371284.5	3'UTR	SNP	1 : 55194081 - 55194081 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	131	20
PTCHD1	139411	broad.mit.edu	37	X	23398084	23398084	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:23398084C>A	ENST00000379361.4	+	2	1588	c.728C>A	c.(727-729)tCc>tAc	p.S243Y		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	243					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TTTCAGAAATCCAACAGCAAA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													235	216	222			NA	NA	X		NA											NA				23398084		2203	4300	6503	SO:0001583	missense			AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186	139411	139411			26392	protein-coding gene	gene with protein product		300828			NA		Standard	NM_173495	NM_173495	NA	Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.728C>A	X.37:g.23398084C>A	ENSP00000368666:p.Ser243Tyr	NA	B4DQH0|Q0IJ60|Q6P6B8	37	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774582	0.49786	.	.	ENSG00000165186	ENST00000379361	D	0.86694	-2.16	4.86	3.0	0.34707	.	0.348412	0.31370	N	0.007762	D	0.85457	0.5701	N	0.19112	0.55	0.32494	N	0.539809	P;P	0.51537	0.727;0.946	B;P	0.59115	0.408;0.852	D	0.86509	0.1808	10	0.46703	T	0.11	.	12.1616	0.54107	0.475:0.525:0.0:0.0	.	138;243	Q96NR3-3;Q96NR3	.;PTHD1_HUMAN	Y	243	ENSP00000368666:S243Y	ENSP00000368666:S243Y	S	+	2	0	PTCHD1	23308005	0.842000	0.29525	0.999000	0.59377	0.997000	0.91878	1.156000	0.31712	0.502000	0.28037	0.600000	0.82982	TCC	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056047.2		+	ENST00000379361.4	Missense_Mutation	SNP	X : 23398084 - 23398084 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1097	275
CPNE5	57699	broad.mit.edu	37	6	36714294	36714294	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36714294G>A	ENST00000244751.2	-	16	1703	c.1079C>T	c.(1078-1080)gCg>gTg	p.A360V	CPNE5_ENST00000393189.2_Missense_Mutation_p.A68V|CPNE5_ENST00000459703.1_5'UTR	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	360	VWFA.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CAGCGCCAGCGCGTAGGCGTT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	93	95			NA	NA	6		NA											NA				36714294		2203	4300	6503	SO:0001583	missense			H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772	57699	57699			2318	protein-coding gene	gene with protein product		604209			NA	9430674	Standard	NM_020939	NM_020939	NA	Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.1079C>T	6.37:g.36714294G>A	ENSP00000244751:p.Ala360Val	NA		37	CCDS4825.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437808	0.62955	.	.	ENSG00000124772	ENST00000244751;ENST00000393189	T;T	0.22539	1.95;1.95	4.77	4.77	0.60923	von Willebrand factor, type A (2);Copine (1);	0.000000	0.85682	D	0.000000	T	0.13500	0.0327	L	0.46614	1.455	0.80722	D	1	P	0.36412	0.552	B	0.38880	0.284	T	0.02797	-1.1109	10	0.49607	T	0.09	.	15.2842	0.73814	0.0:0.0:1.0:0.0	.	360	Q9HCH3	CPNE5_HUMAN	V	360;68	ENSP00000244751:A360V;ENSP00000376885:A68V	ENSP00000244751:A360V	A	-	2	0	CPNE5	36822272	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	3.686000	0.54685	2.193000	0.70182	0.491000	0.48974	GCG	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040351.1		-	ENST00000244751.2	Missense_Mutation	SNP	6 : 36714294 - 36714294 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	389	62
PTPRS	5802	broad.mit.edu	37	19	5212104	5212104	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5212104C>T	ENST00000587303.1	-	31	5026	c.4927G>A	c.(4927-4929)Gag>Aag	p.E1643K	PTPRS_ENST00000588012.1_Missense_Mutation_p.E1605K|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000592099.1_Missense_Mutation_p.E1196K|PTPRS_ENST00000353284.2_Missense_Mutation_p.E1196K|PTPRS_ENST00000262963.6_Missense_Mutation_p.E1623K|PTPRS_ENST00000357368.4_Missense_Mutation_p.E1643K|PTPRS_ENST00000348075.2_Missense_Mutation_p.E1605K|PTPRS_ENST00000372412.4_Missense_Mutation_p.E1644K			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1643	Tyrosine-protein phosphatase 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		AGCAGGGCCTCGTGGATGAAG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	78	79			NA	NA	19		NA											NA				5212104		2203	4300	6503	SO:0001583	missense			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426	5802	5802		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	9681	protein-coding gene	gene with protein product		601576			NA	8954782, 8524829	Standard		NM_002850	NA	Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.4927G>A	19.37:g.5212104C>T	ENSP00000467537:p.Glu1643Lys	NA	O75255|O75870|Q15718|Q16341|Q2M3R7	37	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.517167	0.64634	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	2.47	2.47	0.30058	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.177742	0.35772	U	0.002986	T	0.28067	0.0692	N	0.12746	0.255	0.40297	D	0.978561	P;B;P;D;P;P	0.53312	0.703;0.154;0.832;0.959;0.894;0.878	P;B;P;P;P;P	0.53861	0.495;0.1;0.495;0.615;0.736;0.501	T	0.31392	-0.9945	10	0.72032	D	0.01	.	13.3072	0.60359	0.0:1.0:0.0:0.0	.	1225;1196;1200;1605;1643;1238	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	K	1238;1644;1643;1643;1634;1623;1605;1225;1200;1196	ENSP00000361489:E1644K;ENSP00000349932:E1643K;ENSP00000262963:E1623K;ENSP00000269907:E1605K;ENSP00000327313:E1196K	ENSP00000262963:E1623K	E	-	1	0	PTPRS	5163104	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.800000	0.69108	1.399000	0.46721	0.478000	0.44815	GAG	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450762.2		-	ENST00000587303.1	Missense_Mutation	SNP	19 : 5212104 - 5212104 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	423	88
POMT2	29954	broad.mit.edu	37	14	77787020	77787020	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77787020G>A	ENST00000261534.4	-	1	207	c.5C>T	c.(4-6)cCg>cTg	p.P2L		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	2					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		CGTGGCCGGCGGCATCTTCCC	0.746		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													9	10	10			NA	NA	14		NA											NA				77787020		1496	3380	4876	SO:0001583	missense			AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	29954	29954	2.4.1.109	Dolichyl D-mannosyl phosphate dependent mannosyltransferases	19743	protein-coding gene	gene with protein product		607439			NA	11162531, 12460945	Standard	NM_013382	NM_013382	NA	Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.5C>T	14.37:g.77787020G>A	ENSP00000261534:p.Pro2Leu	NA	Q9NSG6|Q9P1W0|Q9P1W2	37	CCDS9857.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139893	0.37728	.	.	ENSG00000009830	ENST00000261534	T	0.76709	-1.04	4.99	1.9	0.25705	.	0.388197	0.26275	N	0.025302	T	0.52805	0.1757	N	0.08118	0	0.35751	D	0.819457	B	0.19073	0.033	B	0.09377	0.004	T	0.54576	-0.8273	10	0.72032	D	0.01	-11.0857	4.1682	0.10317	0.0892:0.1589:0.5879:0.164	.	2	Q9UKY4	POMT2_HUMAN	L	2	ENSP00000261534:P2L	ENSP00000261534:P2L	P	-	2	0	POMT2	76856773	1.000000	0.71417	0.972000	0.41901	0.262000	0.26303	3.318000	0.51975	1.051000	0.40369	0.655000	0.94253	CCG	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414155.1		-	ENST00000261534.4	Missense_Mutation	SNP	14 : 77787020 - 77787020 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	171	34
UBASH3B	84959	broad.mit.edu	37	11	122677157	122677157	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122677157C>A	ENST00000284273.5	+	12	2010	c.1635C>A	c.(1633-1635)tcC>tcA	p.S545S		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	545	Protein tyrosine phosphatase (By similarity).					cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		TTTCAGAATCCTATGATACTT	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	82	82			NA	NA	11		NA											NA				122677157		2200	4294	6494	SO:0001819	synonymous_variant			AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127	84959	84959			29884	protein-coding gene	gene with protein product	SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate	609201			NA	11853319, 12370296	Standard	NM_032873	NM_032873	NA	Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1635C>A	11.37:g.122677157C>A		NA	Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	37	CCDS31694.1																																																																																			UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387499.1		+	ENST00000284273.5	Silent	SNP	11 : 122677157 - 122677157 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	198	13
TRIP12	9320	broad.mit.edu	37	2	230667001	230667001	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:230667001C>A	ENST00000389045.3	-	18	2210	c.2138G>T	c.(2137-2139)aGc>aTc	p.S713I	TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Missense_Mutation_p.S1031I|TRIP12_ENST00000283943.5_Missense_Mutation_p.S983I			Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	983					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ATCATCCCTGCTGTGCTGCAA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	59	62			NA	NA	2		NA											NA				230667001		2203	4300	6503	SO:0001583	missense			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827	9320	9320			12306	protein-coding gene	gene with protein product		604506			NA	7776974	Standard	NM_004238	XM_005246961	NA	Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000389045.3:c.2138G>T	2.37:g.230667001C>A	ENSP00000373697:p.Ser713Ile	NA	Q15644	37		.	.	.	.	.	.	.	.	.	.	C	22.6	4.311983	0.81358	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.48836	0.81;1.19;0.8	5.42	5.42	0.78866	.	0.041280	0.85682	D	0.000000	T	0.32793	0.0841	N	0.22421	0.69	0.80722	D	1	P;P;P	0.37864	0.61;0.61;0.61	B;B;B	0.28784	0.094;0.094;0.094	T	0.15093	-1.0449	10	0.37606	T	0.19	.	17.379	0.87399	0.0:1.0:0.0:0.0	.	713;1031;983	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	I	983;713;1031	ENSP00000283943:S983I;ENSP00000373697:S713I;ENSP00000373696:S1031I	ENSP00000283943:S983I	S	-	2	0	TRIP12	230375245	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.410000	0.66381	2.521000	0.84997	0.585000	0.79938	AGC	TRIP12-005	NOVEL	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000331865.1		-	ENST00000389045.3	Missense_Mutation	SNP	2 : 230667001 - 230667001 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	314	87
PEX5L	51555	broad.mit.edu	37	3	179576866	179576866	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179576866G>A	ENST00000467460.1	-	8	1136	c.806C>T	c.(805-807)gCa>gTa	p.A269V	PEX5L_ENST00000468741.1_Missense_Mutation_p.A77V|PEX5L_ENST00000464614.1_Missense_Mutation_p.A161V|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000472994.1_Missense_Mutation_p.A210V|PEX5L_ENST00000465751.1_Missense_Mutation_p.A245V|PEX5L_ENST00000392649.3_Missense_Mutation_p.A161V|PEX5L_ENST00000485199.1_Missense_Mutation_p.A234V|PEX5L_ENST00000263962.8_Missense_Mutation_p.A267V|PEX5L_ENST00000476138.1_Missense_Mutation_p.A226V	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	269					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TGCTGCTTTTGCCCTTTCAAA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	142	142			NA	NA	3		NA											NA				179576866		2203	4300	6503	SO:0001583	missense			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757	51555	51555		Tetratricopeptide (TTC) repeat domain containing	30024	protein-coding gene	gene with protein product		611058			NA	11463335	Standard	NM_016559	NM_016559	NA	Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.806C>T	3.37:g.179576866G>A	ENSP00000419975:p.Ala269Val	NA	Q9NQD1|Q9P2U3|Q9P2U4	37	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875930	0.91664	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	D;D;D;D;D;D;D;D;D	0.89196	-2.48;-2.48;-2.46;-2.4;-2.44;-2.47;-2.47;-2.4;-2.47	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.93494	0.7924	L	0.57536	1.79	0.80722	D	1	D;D;P;D;D;D	0.89917	0.993;0.999;0.884;1.0;0.999;0.999	D;D;P;D;D;D	0.85130	0.968;0.986;0.54;0.997;0.996;0.994	D	0.92940	0.6371	10	0.51188	T	0.08	-17.3417	18.8213	0.92099	0.0:0.0:1.0:0.0	.	210;245;161;267;234;269	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	V	269;267;234;267;161;77;226;157;210;161;245	ENSP00000419975:A269V;ENSP00000263962:A267V;ENSP00000418440:A234V;ENSP00000376420:A161V;ENSP00000418665:A77V;ENSP00000420555:A226V;ENSP00000418054:A210V;ENSP00000417270:A161V;ENSP00000419348:A245V	ENSP00000263962:A267V	A	-	2	0	PEX5L	181059560	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.049000	0.89443	2.754000	0.94517	0.558000	0.71614	GCA	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348577.1		-	ENST00000467460.1	Missense_Mutation	SNP	3 : 179576866 - 179576866 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	316	42
ENPP2	5168	broad.mit.edu	37	8	120569929	120569929	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120569929G>T	ENST00000522167.1	-	14	1414	c.1329C>A	c.(1327-1329)agC>agA	p.S443R	ENPP2_ENST00000075322.6_Missense_Mutation_p.S808R|ENPP2_ENST00000427067.2_Missense_Mutation_p.S829R|ENPP2_ENST00000522826.1_Missense_Mutation_p.S833R|ENPP2_ENST00000259486.6_Missense_Mutation_p.S860R			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	808					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CGTCCTCTGAGCTCTGCAATG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(20;305 879 2501 4818 31020)							NA				0													139	127	131			NA	NA	8		NA											NA				120569929		2203	4300	6503	SO:0001583	missense			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	5168	5168	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	autotaxin	601060		PDNP2	NA	8586446	Standard		NM_001040092	NA	Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000522167.1:c.1329C>A	8.37:g.120569929G>T	ENSP00000429476:p.Ser443Arg	NA	A8UHA1|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	37		.	.	.	.	.	.	.	.	.	.	G	12.34	1.909460	0.33721	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.75367	-0.72;-0.71;-0.93;-0.71;-0.71	5.91	3.15	0.36227	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.077468	0.52532	D	0.000070	T	0.80341	0.4605	M	0.68952	2.095	0.48696	D	0.99969	P;P;D;P;D	0.58970	0.806;0.848;0.983;0.71;0.984	P;P;P;B;P	0.61132	0.776;0.583;0.729;0.35;0.884	T	0.76906	-0.2786	10	0.40728	T	0.16	.	9.5939	0.39563	0.2684:0.0:0.7316:0.0	.	346;833;808;860;443	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	R	860;829;443;833;808	ENSP00000259486:S860R;ENSP00000403315:S829R;ENSP00000429476:S443R;ENSP00000428291:S833R;ENSP00000075322:S808R	ENSP00000075322:S808R	S	-	3	2	ENPP2	120639110	1.000000	0.71417	0.998000	0.56505	0.917000	0.54804	1.137000	0.31479	0.402000	0.25451	0.655000	0.94253	AGC	ENPP2-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000381388.1		-	ENST00000522167.1	Missense_Mutation	SNP	8 : 120569929 - 120569929 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	550	88
ALG12	79087	broad.mit.edu	37	22	50303569	50303569	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50303569C>T	ENST00000330817.6	-	5	910	c.637G>A	c.(637-639)Gcc>Acc	p.A213T		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	NA					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		GCCGGGACGGCGTGGCGAAGG	0.522		NA											C	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	EXOME	NA	NA	7e-04	SNP								NA				0													71	71	71			NA	NA	22		NA											NA				50303569		2203	4300	6503	SO:0001583	missense			AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	79087	79087	2.4.1.260	Dolichyl D-mannosyl phosphate dependent mannosyltransferases	19358	protein-coding gene	gene with protein product	dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase, dol-P-Man dependent alpha-1,6-mannosyltransferase	607144	asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase), asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)		NA	11983712	Standard	NM_024105	NM_024105	NA	Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.637G>A	22.37:g.50303569C>T	ENSP00000333813:p.Ala213Thr	NA	A6PWM1|Q4KMH4|Q8NG10|Q96AA4	37	CCDS14081.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	24.8	4.575536	0.86645	.	.	ENSG00000182858	ENST00000330817	T	0.62788	0.0	4.43	4.43	0.53597	.	0.048778	0.85682	D	0.000000	T	0.78400	0.4277	M	0.82056	2.57	0.80722	D	1	D	0.67145	0.996	P	0.62184	0.899	T	0.80986	-0.1137	10	0.49607	T	0.09	-10.9563	18.0056	0.89208	0.0:1.0:0.0:0.0	.	213	Q9BV10	ALG12_HUMAN	T	213	ENSP00000333813:A213T	ENSP00000333813:A213T	A	-	1	0	ALG12	48689573	1.000000	0.71417	0.073000	0.20177	0.004000	0.04260	4.036000	0.57304	2.425000	0.82216	0.644000	0.83932	GCC	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317405.2		-	ENST00000330817.6	Missense_Mutation	SNP	22 : 50303569 - 50303569 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	347	41
TSG101	7251	broad.mit.edu	37	11	18536328	18536328	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18536328G>T	ENST00000536719.1	-	4	388	c.254C>A	c.(253-255)cCt>cAt	p.P85H	TSG101_ENST00000251968.3_Missense_Mutation_p.P85H|TSG101_ENST00000357193.3_Intron|TSG101_ENST00000543087.1_5'UTR			Q99816	TS101_HUMAN	tumor susceptibility 101	85	UEV.				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						AAAACAGATAGGGGGATTATA	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(99;1348 1396 8611 26475 50572)							NA				0													151	164	160			NA	NA	11		NA											NA				18536328		2199	4290	6489	SO:0001583	missense			U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319	7251	7251			15971	protein-coding gene	gene with protein product		601387	tumor susceptibility gene 10, tumor susceptibility gene 101	TSG10	NA	9019400, 9241264	Standard	NM_006292	NM_006292	NA	Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000536719.1:c.254C>A	11.37:g.18536328G>T	ENSP00000438471:p.Pro85His	NA	Q9BUM5	37		.	.	.	.	.	.	.	.	.	.	G	18.63	3.664400	0.67700	.	.	ENSG00000074319	ENST00000536719;ENST00000251968	D;D	0.87179	-2.2;-2.22	5.78	5.78	0.91487	Ubiquitin E2 variant, N-terminal (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.96222	0.8768	H	0.96805	3.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97057	0.9768	10	0.87932	D	0	-17.6356	20.0203	0.97492	0.0:0.0:1.0:0.0	.	85	Q99816	TS101_HUMAN	H	85	ENSP00000438471:P85H;ENSP00000251968:P85H	ENSP00000251968:P85H	P	-	2	0	TSG101	18492904	1.000000	0.71417	1.000000	0.80357	0.217000	0.24651	9.646000	0.98474	2.730000	0.93505	0.655000	0.94253	CCT	TSG101-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000395905.2		-	ENST00000536719.1	Missense_Mutation	SNP	11 : 18536328 - 18536328 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	695	113
SYNE1	23345	broad.mit.edu	37	6	152476174	152476174	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152476174G>A	ENST00000367255.5	-	133	24583	c.23982C>T	c.(23980-23982)atC>atT	p.I7994I	SYNE1_ENST00000539504.1_Silent_p.I149I|SYNE1_ENST00000354674.4_Silent_p.I149I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Silent_p.I2518I|SYNE1_ENST00000341594.5_Silent_p.I7606I|SYNE1_ENST00000423061.1_Silent_p.I7923I|SYNE1_ENST00000448038.1_Silent_p.I7923I|SYNE1_ENST00000265368.4_Silent_p.I7994I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7994					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACGTCTCTTCGATTCTGGGGC	0.478		NA								HNSCC(10;0.0054)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	83	81			NA	NA	6		NA											NA				152476174		2203	4300	6503	SO:0001819	synonymous_variant			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018	23345	23345			17089	protein-coding gene	gene with protein product	myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1	608441	chromosome 6 open reading frame 98	C6orf98	NA	9872452, 10878022	Standard	NM_182961	NM_182961	NA	Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.23982C>T	6.37:g.152476174G>A		NA	O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	37	CCDS5236.2																																																																																			SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334755.2		-	ENST00000367255.5	Silent	SNP	6 : 152476174 - 152476174 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	605	30
SPTA1	6708	broad.mit.edu	37	1	158639514	158639514	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158639514C>A	ENST00000368147.4	-	13	1842	c.1662G>T	c.(1660-1662)aaG>aaT	p.K554N		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	NA					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CACGGATAGCCTTGATGTTCT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													230	218	222			NA	NA	1		NA											NA				158639514		1918	4124	6042	SO:0001583	missense			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554	6708	6708		EF-hand domain containing	11272	protein-coding gene	gene with protein product	elliptocytosis 2	182860	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		NA		Standard	NM_003126	NM_003126	NA	Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1662G>T	1.37:g.158639514C>A	ENSP00000357129:p.Lys554Asn	NA	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	6.407	0.443166	0.12164	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51817	0.69;0.69	4.72	2.36	0.29203	.	0.663319	0.11715	N	0.536488	T	0.16257	0.0391	N	0.16368	0.405	0.19575	N	0.999963	B	0.19706	0.038	B	0.30495	0.116	T	0.37820	-0.9689	10	0.42905	T	0.14	.	10.4003	0.44225	0.685:0.3149:0.0:0.0	.	554	P02549	SPTA1_HUMAN	N	554	ENSP00000357130:K554N;ENSP00000357129:K554N	ENSP00000357129:K554N	K	-	3	2	SPTA1	156906138	0.956000	0.32656	0.216000	0.23742	0.008000	0.06430	1.365000	0.34182	0.389000	0.25086	-1.224000	0.01588	AAG	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051851.3		-	ENST00000368147.4	Missense_Mutation	SNP	1 : 158639514 - 158639514 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1443	362
CPSF1	29894	broad.mit.edu	37	8	145620531	145620531	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145620531G>A	ENST00000349769.3	-	28	3230	c.3136C>T	c.(3136-3138)Cgc>Tgc	p.R1046C		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1046					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CGTGGGATGCGGGCACACGGC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(133;1088 1848 27708 34777 35269)							NA				0													59	58	58			NA	NA	8		NA											NA				145620531		2203	4300	6503	SO:0001583	missense			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894	29894	29894			2324	protein-coding gene	gene with protein product		606027	cleavage and polyadenylation specific factor 1, 160kD subunit		NA	7651824, 7590244	Standard	NM_013291	NM_013291	NA	Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.3136C>T	8.37:g.145620531G>A	ENSP00000339353:p.Arg1046Cys	NA	Q96AF0	37	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582216	0.65992	.	.	ENSG00000071894	ENST00000349769	T	0.44881	0.91	4.54	3.63	0.41609	.	0.122857	0.52532	D	0.000061	T	0.53400	0.1794	L	0.60455	1.87	0.80722	D	1	D	0.69078	0.997	P	0.60286	0.872	T	0.53244	-0.8466	10	0.48119	T	0.1	-10.8279	11.225	0.48877	0.0:0.0:0.8083:0.1917	.	1046	Q10570	CPSF1_HUMAN	C	1046	ENSP00000339353:R1046C	ENSP00000339353:R1046C	R	-	1	0	CPSF1	145591339	1.000000	0.71417	0.993000	0.49108	0.774000	0.43823	5.773000	0.68898	1.069000	0.40788	0.561000	0.74099	CGC	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382422.2		-	ENST00000349769.3	Missense_Mutation	SNP	8 : 145620531 - 145620531 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	207	44
TRMT6	51605	broad.mit.edu	37	20	5927132	5927132	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5927132C>T	ENST00000203001.2	-	2	306	c.176G>A	c.(175-177)gGc>gAc	p.G59D	TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	59					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity	p.G59V(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						ATAACTATGGCCAATGACGTT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											197	159	172			NA	NA	20		NA											NA				5927132		2203	4300	6503	SO:0001583	missense			AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195	51605	51605			20900	protein-coding gene	gene with protein product					NA	16043508	Standard		NM_001281467	NA	Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.176G>A	20.37:g.5927132C>T	ENSP00000203001:p.Gly59Asp	NA	Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	37	CCDS13093.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742387	0.89573	.	.	ENSG00000089195	ENST00000203001	T	0.48201	0.82	5.68	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.69895	0.3162	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74432	-0.3667	10	0.59425	D	0.04	-8.7611	16.4517	0.83993	0.0:0.8686:0.1314:0.0	.	59	Q9UJA5	TRM6_HUMAN	D	59	ENSP00000203001:G59D	ENSP00000203001:G59D	G	-	2	0	TRMT6	5875132	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.487000	0.81328	1.357000	0.45904	0.655000	0.94253	GGC	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077889.2		-	ENST00000203001.2	Missense_Mutation	SNP	20 : 5927132 - 5927132 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	440	30
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74834768	74834768	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:74834768G>T	ENST00000370899.3	+	16	1724	c.1687G>T	c.(1687-1689)Gaa>Taa	p.E563*	FPGT-TNNI3K_ENST00000370895.1_Nonsense_Mutation_p.E563*|RP11-439H8.4_ENST00000415549.2_RNA|TNNI3K_ENST00000370891.2_Nonsense_Mutation_p.E563*|TNNI3K_ENST00000326637.3_Nonsense_Mutation_p.E462*|FPGT-TNNI3K_ENST00000557284.2_Nonsense_Mutation_p.E576*	NM_001199327.1	NP_001186256	Q59H18	TNI3K_HUMAN	FPGT-TNNI3K readthrough	462	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding				NA						TCAGCTCTCAGAAATTGAGTT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	43	43			NA	NA	1		NA											NA				74834768		2202	4299	6501	SO:0001587	stop_gained					1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030	100526835	100526835			42952	other	readthrough					NA		Standard		NM_001112808	NA	Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1687G>T	1.37:g.74834768G>T	ENSP00000359936:p.Glu563*	NA	Q17RN0|Q49AR1|Q6MZS9|Q9Y2V6	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.032380|8.032380	0.98619|0.98619	.|.	.|.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783|ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637|ENST00000526236	.|.	.|.	.|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.114197|.	0.64402|.	D|.	0.000011|.	.|T	.|0.70762	.|0.3261	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69135	.|-0.5225	.|3	0.54805|.	T|.	0.06|.	.|.	19.1989|19.1989	0.93701|0.93701	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|H	563;563;563;563;462|8	.|.	ENSP00000322251:E462X|.	E|Q	+|+	1|3	0|2	RP11-653A5.2;AC093158.1|AC093158.1	74607356|74607356	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.307000|9.307000	0.96226|0.96226	2.538000|2.538000	0.85594|0.85594	0.650000|0.650000	0.86243|0.86243	GAA|CAG	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000026438.3		+	ENST00000370899.3	Nonsense_Mutation	SNP	1 : 74834768 - 74834768 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	221	59
TNXB	7148	broad.mit.edu	37	6	32064837	32064837	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32064837C>T	ENST00000479795.1	-	3	933	c.793G>A	c.(793-795)Gtg>Atg	p.V265M	TNXB_ENST00000375247.2_Missense_Mutation_p.V265M|TNXB_ENST00000375244.3_Missense_Mutation_p.V265M			P22105	TENX_HUMAN	tenascin XB	265	EGF-like 4.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGTCACACACGCAGCGCCCA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	51	48			NA	NA	6		NA											NA				32064837		2188	4273	6461	SO:0001583	missense			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477	7148	7148		Fibrinogen C domain containing, Fibronectin type III domain containing	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2	NA	8530023	Standard	NM_019105	NM_019105	NA	Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000479795.1:c.793G>A	6.37:g.32064837C>T	ENSP00000418248:p.Val265Met	NA	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	37		.	.	.	.	.	.	.	.	.	.	C	11.26	1.585053	0.28268	.	.	ENSG00000168477	ENST00000375244;ENST00000375247;ENST00000479795	T;T;T	0.11495	2.77;2.77;3.12	4.57	2.75	0.32379	.	0.466924	0.15993	N	0.234727	T	0.21227	0.0511	M	0.89095	3.005	0.23501	N	0.997549	D	0.89917	1.0	D	0.87578	0.998	T	0.04664	-1.0935	10	0.72032	D	0.01	.	7.1375	0.25537	0.0:0.7045:0.0:0.2955	.	265	P22105-3	.	M	265	ENSP00000364393:V265M;ENSP00000364396:V265M;ENSP00000418248:V265M	ENSP00000364393:V265M	V	-	1	0	TNXB	32172815	0.012000	0.17670	1.000000	0.80357	0.078000	0.17371	0.141000	0.16076	0.912000	0.36772	-0.140000	0.14226	GTG	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000357059.1		-	ENST00000479795.1	Missense_Mutation	SNP	6 : 32064837 - 32064837 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	209	36
TMCO2	127391	broad.mit.edu	37	1	40716992	40716992	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40716992A>G	ENST00000372766.3	+	2	368	c.275A>G	c.(274-276)tAc>tGc	p.Y92C	TMCO2_ENST00000468258.1_3'UTR	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	92						integral to membrane				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TACAAACTTTACAAGAAGGGC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	80	79			NA	NA	1		NA											NA				40716992		2203	4300	6503	SO:0001583	missense			AL050341	CCDS30684.1	1p34.2	2014-02-12			ENSG00000188800	ENSG00000188800	127391	127391			23312	protein-coding gene	gene with protein product					NA		Standard	NM_001008740	NM_001008740	NA	Approved	dJ39G22.2	uc001cfe.2	Q7Z6W1	OTTHUMG00000005764	ENST00000372766.3:c.275A>G	1.37:g.40716992A>G	ENSP00000361852:p.Tyr92Cys	NA		37	CCDS30684.1	.	.	.	.	.	.	.	.	.	.	A	18.04	3.535742	0.64972	.	.	ENSG00000188800	ENST00000372766	.	.	.	5.24	5.24	0.73138	.	0.000000	0.49916	D	0.000124	T	0.60856	0.2301	L	0.32530	0.975	0.36795	D	0.885068	D	0.89917	1.0	D	0.91635	0.999	T	0.68918	-0.5282	9	0.87932	D	0	-9.6777	11.454	0.50169	1.0:0.0:0.0:0.0	.	92	Q7Z6W1	TMCO2_HUMAN	C	92	.	ENSP00000361852:Y92C	Y	+	2	0	TMCO2	40489579	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	4.007000	0.57093	2.202000	0.70862	0.533000	0.62120	TAC	TMCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000015769.1		+	ENST00000372766.3	Missense_Mutation	SNP	1 : 40716992 - 40716992 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	410	81
AURKA	6790	broad.mit.edu	37	20	54945360	54945360	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54945360C>T	ENST00000347343.2	-	9	1333	c.1066G>A	c.(1066-1068)Gcc>Acc	p.A356T	AURKA_ENST00000395907.1_3'UTR|AURKA_ENST00000395913.3_Missense_Mutation_p.A356T|AURKA_ENST00000312783.6_Missense_Mutation_p.A356T|AURKA_ENST00000395911.1_Missense_Mutation_p.A356T|AURKA_ENST00000371356.2_Missense_Mutation_p.A356T|AURKA_ENST00000395915.3_Missense_Mutation_p.A356T|AURKA_ENST00000395909.4_Missense_Mutation_p.A356T|AURKA_ENST00000395914.1_Missense_Mutation_p.A356T	NM_003600.2	NP_003591.2	O14965	AURKA_HUMAN	aurora kinase A	356	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			AGGTCCCTGGCTCCCTCTGTT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(34;439 1292 51416 52695)|GBM(144;1525 2517 48902 51835)|Esophageal Squamous(191;569 2880 14195 30540)							NA				0													91	84	86			NA	NA	20		NA											NA				54945360		2203	4300	6503	SO:0001583	missense			BC001280	CCDS13451.1	20q13	2012-07-23	2003-07-21	2003-07-23	ENSG00000087586	ENSG00000087586	6790	6790		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	11393	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 47, Aurora-A kinase	603072	serine/threonine kinase 15,  serine/threonine kinase 6	STK15, STK6	NA	9174055, 9771714	Standard	NM_003600	NM_003600	NA	Approved	BTAK, AurA, STK7, ARK1, PPP1R47, AIK	uc002xxi.1	O14965	OTTHUMG00000032796	ENST00000347343.2:c.1066G>A	20.37:g.54945360C>T	ENSP00000216911:p.Ala356Thr	NA	E1P5F9|O60445|O75873|Q9BQD6|Q9UPG5	37	CCDS13451.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046595	0.93740	.	.	ENSG00000087586	ENST00000395909;ENST00000395914;ENST00000347343;ENST00000395915;ENST00000312783;ENST00000371356;ENST00000395913;ENST00000395911	T;T;T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	5.25	5.25	0.73442	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.82820	0.5120	M	0.78801	2.425	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.999	D;D;D	0.76071	0.94;0.987;0.987	D	0.84786	0.0776	10	0.87932	D	0	-6.2463	19.2213	0.93797	0.0:1.0:0.0:0.0	.	288;356;356	B4DX16;B2R6Z3;O14965	.;.;AURKA_HUMAN	T	356	ENSP00000379245:A356T;ENSP00000379250:A356T;ENSP00000216911:A356T;ENSP00000379251:A356T;ENSP00000321591:A356T;ENSP00000360407:A356T;ENSP00000379249:A356T;ENSP00000379247:A356T	ENSP00000321591:A356T	A	-	1	0	AURKA	54378767	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.648000	0.67930	2.615000	0.88500	0.650000	0.86243	GCC	AURKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079804.3		-	ENST00000347343.2	Missense_Mutation	SNP	20 : 54945360 - 54945360 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	392	70
RBM28	55131	broad.mit.edu	37	7	127975620	127975620	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127975620C>T	ENST00000223073.2	-	8	1037	c.923G>A	c.(922-924)aGc>aAc	p.S308N	RBM28_ENST00000415472.2_Missense_Mutation_p.S167N	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	NA					mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						CTCCTCAGTGCTGGTATCACT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	104	108			NA	NA	7		NA											NA				127975620		2203	4300	6503	SO:0001583	missense			AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344	55131	55131		RNA binding motif (RRM) containing	21863	protein-coding gene	gene with protein product		612074			NA		Standard	NM_018077	NM_018077	NA	Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.923G>A	7.37:g.127975620C>T	ENSP00000223073:p.Ser308Asn	NA	A4D100|Q53H65|Q96CV3	37	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	C	9.937	1.216529	0.22373	.	.	ENSG00000106344	ENST00000223073;ENST00000415472;ENST00000478061	T;T;T	0.21361	2.92;2.01;2.13	5.52	1.45	0.22620	.	0.603956	0.19156	N	0.121337	T	0.12178	0.0296	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.32587	-0.9901	10	0.20046	T	0.44	-0.1468	7.9257	0.29872	0.0:0.6765:0.0:0.3235	.	167;308	E9PDD9;Q9NW13	.;RBM28_HUMAN	N	308;167;277	ENSP00000223073:S308N;ENSP00000390517:S167N;ENSP00000418071:S277N	ENSP00000223073:S308N	S	-	2	0	RBM28	127762856	0.000000	0.05858	0.000000	0.03702	0.162000	0.22319	0.157000	0.16402	0.023000	0.15187	0.561000	0.74099	AGC	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349442.2		-	ENST00000223073.2	Missense_Mutation	SNP	7 : 127975620 - 127975620 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	67
HSP90AA1	3320	broad.mit.edu	37	14	102548126	102548126	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102548126T>C	ENST00000334701.7	-	12	2769	c.2488A>G	c.(2488-2490)Acc>Gcc	p.T830A	HSP90AA1_ENST00000216281.8_Missense_Mutation_p.T708A	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	708					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	GCAGCACTGGTATCATCAGCA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													185	162	170			NA	NA	14		NA											NA				102548126		2203	4300	6503	SO:0001583	missense			M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824	3320	3320		Heat shock proteins / HSPC	5253	protein-coding gene	gene with protein product		140571	heat shock 90kD protein 1, alpha, heat shock 90kDa protein 1, alpha	HSPC1, HSPCA	NA	2527334, 16269234	Standard	NM_005348	NM_001017963	NA	Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000334701.7:c.2488A>G	14.37:g.102548126T>C	ENSP00000335153:p.Thr830Ala	NA	A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	37	CCDS32160.1	.	.	.	.	.	.	.	.	.	.	t	8.088	0.773911	0.16051	.	.	ENSG00000080824	ENST00000216281;ENST00000334701	T;T	0.08896	3.04;3.04	4.34	4.34	0.51931	.	0.837310	0.10573	U	0.658935	T	0.02012	0.0063	N	0.00560	-1.38	0.25982	N	0.982354	B;B	0.18166	0.009;0.026	B;B	0.20955	0.032;0.017	T	0.45381	-0.9265	10	0.13853	T	0.58	-10.756	1.5499	0.02572	0.1726:0.1003:0.1794:0.5477	.	830;708	P07900-2;P07900	.;HS90A_HUMAN	A	708;830	ENSP00000216281:T708A;ENSP00000335153:T830A	ENSP00000216281:T708A	T	-	1	0	HSP90AA1	101617879	0.708000	0.27876	0.974000	0.42286	0.969000	0.65631	0.679000	0.25291	1.739000	0.51704	0.377000	0.23210	ACC	HSP90AA1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414953.1		-	ENST00000334701.7	Missense_Mutation	SNP	14 : 102548126 - 102548126 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	694	140
CCDC15	80071	broad.mit.edu	37	11	124857477	124857477	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124857477G>A	ENST00000529051.1	+	8	1614	c.1355G>A	c.(1354-1356)aGa>aAa	p.R452K	CCDC15_ENST00000344762.5_Missense_Mutation_p.R452K			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	452						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		TTCCTACCCAGAGACCAGCAT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	100	101			NA	NA	11		NA											NA				124857477		1853	4094	5947	SO:0001583	missense			BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548	80071	80071			25798	protein-coding gene	gene with protein product					NA		Standard	NM_025004	NM_025004	NA	Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000529051.1:c.1355G>A	11.37:g.124857477G>A	ENSP00000435403:p.Arg452Lys	NA	Q9H8U7	37		.	.	.	.	.	.	.	.	.	.	G	0.655	-0.807992	0.02819	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.29917	1.59;1.55	3.4	-5.98	0.02220	.	1.037760	0.07723	N	0.943966	T	0.10852	0.0265	N	0.16478	0.41	0.09310	N	1	B	0.13594	0.008	B	0.12837	0.008	T	0.35325	-0.9793	10	0.02654	T	1	-0.0822	1.9469	0.03358	0.1979:0.288:0.3713:0.1428	.	452	Q0P6D6	CCD15_HUMAN	K	452	ENSP00000435403:R452K;ENSP00000341684:R452K	ENSP00000341684:R452K	R	+	2	0	CCDC15	124362687	0.000000	0.05858	0.000000	0.03702	0.133000	0.20885	-1.489000	0.02306	-1.056000	0.03205	0.563000	0.77884	AGA	CCDC15-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000387130.1		+	ENST00000529051.1	Missense_Mutation	SNP	11 : 124857477 - 124857477 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	566	81
RPS6KA4	8986	broad.mit.edu	37	11	64138899	64138899	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64138899G>A	ENST00000528057.1	+	17	2333	c.2245G>A	c.(2245-2247)Gtc>Atc	p.V749I	RPS6KA4_ENST00000294261.4_Missense_Mutation_p.V508I|RPS6KA4_ENST00000334205.4_Missense_Mutation_p.V756I	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	756					axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						CCGAGCCCCCGTCGCCTCCAA	0.731		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													7	9	8			NA	NA	11		NA											NA				64138899		1787	3517	5304	SO:0001583	missense			AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302	8986	8986			10433	protein-coding gene	gene with protein product		603606	ribosomal protein S6 kinase, 90kD, polypeptide 4		NA	9792677, 9687510	Standard	NM_003942	XM_005274379	NA	Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000528057.1:c.2245G>A	11.37:g.64138899G>A	ENSP00000435580:p.Val749Ile	NA	A8K7Z8|O75585|Q53ES8	37		.	.	.	.	.	.	.	.	.	.	g	0.411	-0.913058	0.02415	.	.	ENSG00000162302	ENST00000528057;ENST00000334205;ENST00000294261	T;T;T	0.67698	-0.28;-0.24;-0.25	1.68	0.63	0.17693	.	0.408805	0.18438	U	0.141220	T	0.46190	0.1380	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.22604	0.0;0.071;0.043;0.072	B;B;B;B	0.08055	0.0;0.002;0.001;0.003	T	0.29150	-1.0021	10	0.87932	D	0	.	7.2917	0.26370	0.319:0.0:0.681:0.0	.	508;749;756;750	G3XAA9;E9PJN1;O75676;O75676-2	.;.;KS6A4_HUMAN;.	I	749;756;508	ENSP00000435580:V749I;ENSP00000333896:V756I;ENSP00000294261:V508I	ENSP00000294261:V508I	V	+	1	0	RPS6KA4	63895475	0.006000	0.16342	0.002000	0.10522	0.016000	0.09150	0.268000	0.18571	-0.629000	0.05575	-1.786000	0.00637	GTC	RPS6KA4-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000385364.1		+	ENST00000528057.1	Missense_Mutation	SNP	11 : 64138899 - 64138899 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	206	46
IGF2BP1	10642	broad.mit.edu	37	17	47123649	47123649	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47123649G>A	ENST00000290341.3	+	14	1889	c.1555G>A	c.(1555-1557)Gct>Act	p.A519T	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.A380T	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	519	KH 4.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTTGACGGCAGCTGAGGTGGT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(198;1041 2123 8248 37119 38268)							NA				0													98	86	90			NA	NA	17		NA											NA				47123649		2203	4300	6503	SO:0001583	missense			AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217	10642	10642		RNA binding motif (RRM) containing	28866	protein-coding gene	gene with protein product	IGF II mRNA binding protein 1	608288			NA	9891060, 11992722	Standard	NM_006546	NM_001160423	NA	Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.1555G>A	17.37:g.47123649G>A	ENSP00000290341:p.Ala519Thr	NA		37	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	G	36	5.680623	0.96774	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.54071	0.59;0.59	5.65	5.65	0.86999	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.76248	0.3961	M	0.82517	2.595	0.80722	D	1	D;D	0.71674	0.998;0.972	D;P	0.81914	0.995;0.82	T	0.77747	-0.2472	10	0.66056	D	0.02	-13.076	19.5069	0.95121	0.0:0.0:1.0:0.0	.	380;519	C9JT33;Q9NZI8	.;IF2B1_HUMAN	T	519;380	ENSP00000290341:A519T;ENSP00000389135:A380T	ENSP00000290341:A519T	A	+	1	0	IGF2BP1	44478648	1.000000	0.71417	0.986000	0.45419	0.989000	0.77384	9.614000	0.98353	2.941000	0.99782	0.655000	0.94253	GCT	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364046.1		+	ENST00000290341.3	Missense_Mutation	SNP	17 : 47123649 - 47123649 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	468	71
SGSM1	129049	broad.mit.edu	37	22	25251355	25251355	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25251355C>T	ENST00000400358.4	+	7	684	c.627C>T	c.(625-627)tcC>tcT	p.S209S	SGSM1_ENST00000400359.4_Silent_p.S209S	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	209						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TCCACAGCTCCCACGTGCGGC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	31	30			NA	NA	22		NA											NA				25251355		2092	4221	6313	SO:0001819	synonymous_variant			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037	129049	129049		Small G protein signaling modulators	29410	protein-coding gene	gene with protein product		611417	RUN and TBC1 domain containing 2	RUTBC2	NA	11853319, 17509819, 22637480	Standard	XM_059318	NM_133454	NA	Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400358.4:c.627C>T	22.37:g.25251355C>T		NA	A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|Q5TFL3|Q8TF60	37	CCDS46675.1																																																																																			SGSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320279.1		+	ENST00000400358.4	Silent	SNP	22 : 25251355 - 25251355 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	157	24
PDIA6	10130	broad.mit.edu	37	2	10931982	10931982	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10931982G>T	ENST00000404371.2	-	8	1016	c.679C>A	c.(679-681)Ctg>Atg	p.L227M	PDIA6_ENST00000381611.4_Missense_Mutation_p.L180M|PDIA6_ENST00000404824.2_Missense_Mutation_p.L223M|PDIA6_ENST00000540494.1_Missense_Mutation_p.L172M|PDIA6_ENST00000272227.3_Missense_Mutation_p.L175M	NM_001282704.1	NP_001269633.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	175	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		TCACTGTCCAGAACATTCTTA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(73;509 1219 34219 41343 41551)							NA				0													280	207	232			NA	NA	2		NA											NA				10931982		2203	4300	6503	SO:0001583	missense			BC001312	CCDS1675.1, CCDS62852.1, CCDS62853.1, CCDS62854.1, CCDS62855.1	2p25.1	2009-11-20	2005-06-29	2005-03-03	ENSG00000143870	ENSG00000143870	10130	10130	5.3.4.1	Protein disulfide isomerases	30168	protein-coding gene	gene with protein product	protein disulfide isomerase-related protein	611099	thioredoxin domain containing 7 (protein disulfide isomerase), protein disulfide isomerase-associated 6	TXNDC7	NA	7590364, 12204115	Standard	NM_005742	XM_005246145	NA	Approved	P5, ERp5	uc002rau.3	Q15084	OTTHUMG00000090479	ENST00000404371.2:c.679C>A	2.37:g.10931982G>T	ENSP00000385385:p.Leu227Met	NA	Q6ZSH5|Q99778	37		.	.	.	.	.	.	.	.	.	.	G	15.48	2.845266	0.51164	.	.	ENSG00000143870	ENST00000272227;ENST00000404371;ENST00000404824;ENST00000540494;ENST00000381611	T;T;T;T;T	0.03524	3.9;3.9;3.9;3.9;3.9	5.63	5.63	0.86233	Thioredoxin domain (1);Thioredoxin-like fold (3);Disulphide isomerase (1);	0.062970	0.64402	D	0.000003	T	0.14527	0.0351	M	0.67700	2.07	0.80722	D	1	B;B;B;P	0.40476	0.313;0.197;0.079;0.718	P;B;P;P	0.61132	0.579;0.397;0.448;0.884	T	0.00007	-1.2496	10	0.66056	D	0.02	.	10.7576	0.46245	0.0694:0.0:0.7977:0.1329	.	172;223;227;175	B7Z254;B5MCQ5;Q15084-2;Q15084	.;.;.;PDIA6_HUMAN	M	175;227;223;172;180	ENSP00000272227:L175M;ENSP00000385385:L227M;ENSP00000384459:L223M;ENSP00000438778:L172M;ENSP00000371024:L180M	ENSP00000272227:L175M	L	-	1	2	PDIA6	10849433	0.988000	0.35896	0.552000	0.28243	0.471000	0.32888	1.670000	0.37502	2.826000	0.97356	0.655000	0.94253	CTG	PDIA6-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000323575.2		-	ENST00000404371.2	Missense_Mutation	SNP	2 : 10931982 - 10931982 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	419	122
CTNNA2	1496	broad.mit.edu	37	2	80646714	80646714	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80646714C>T	ENST00000402739.4	+	8	1283	c.1278C>T	c.(1276-1278)aaC>aaT	p.N426N	CTNNA2_ENST00000541047.1_Silent_p.N426N|CTNNA2_ENST00000466387.1_Silent_p.N426N|CTNNA2_ENST00000361291.4_Silent_p.N460N|CTNNA2_ENST00000496558.1_Silent_p.N426N|CTNNA2_ENST00000343114.3_Silent_p.N105N|CTNNA2_ENST00000540488.1_Silent_p.N426N	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	426					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.N426K(3)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGCATGCCAACAAACTGGTAG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				3	Substitution - Missense(3)	upper_aerodigestive_tract(1)|lung(1)|prostate(1)											90	91	91			NA	NA	2		NA											NA				80646714		2033	4235	6268	SO:0001819	synonymous_variant				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032	1496	1496			2510	protein-coding gene	gene with protein product	cadherin-associated protein, related, cancer/testis antigen 114	114025			NA	8432524	Standard	NM_004389	NM_004389	NA	Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1278C>T	2.37:g.80646714C>T		NA	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	37																																																																																				CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000328511.4		+	ENST00000402739.4	Silent	SNP	2 : 80646714 - 80646714 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	376	23
MCCC1	56922	broad.mit.edu	37	3	182810240	182810240	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:182810240G>A	ENST00000265594.4	-	3	376	c.230C>T	c.(229-231)gCg>gTg	p.A77V	MCCC1_ENST00000492597.1_Intron|MCCC1_ENST00000539926.1_Intron	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	77	Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	ACTATAAACCGCCACAGTCTG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	106	113			NA	NA	3		NA											NA				182810240		2203	4300	6503	SO:0001583	missense			AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	56922	56922	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)		NA	11170888	Standard	NM_020166	XR_241502	NA	Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.230C>T	3.37:g.182810240G>A	ENSP00000265594:p.Ala77Val	NA	Q59ES4|Q9H959|Q9NS97	37	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	G	32	5.109918	0.94292	.	.	ENSG00000078070	ENST00000265594	D	0.94497	-3.44	5.86	5.86	0.93980	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Biotin carboxylation domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97682	0.9240	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98043	1.0383	10	0.87932	D	0	.	18.9487	0.92632	0.0:0.0:1.0:0.0	.	77	Q96RQ3	MCCA_HUMAN	V	77	ENSP00000265594:A77V	ENSP00000265594:A77V	A	-	2	0	MCCC1	184292934	1.000000	0.71417	0.982000	0.44146	0.685000	0.39939	9.064000	0.93933	2.778000	0.95560	0.655000	0.94253	GCG	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350775.1		-	ENST00000265594.4	Missense_Mutation	SNP	3 : 182810240 - 182810240 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	432	94
TRPM3	80036	broad.mit.edu	37	9	73151789	73151789	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:73151789T>C	ENST00000377111.2	-	25	4199				TRPM3_ENST00000358082.3_Missense_Mutation_p.I1264V|TRPM3_ENST00000396285.1_Missense_Mutation_p.I1261V|TRPM3_ENST00000396292.4_Missense_Mutation_p.I1274V|TRPM3_ENST00000408909.2_Missense_Mutation_p.I1261V|TRPM3_ENST00000377110.3_Missense_Mutation_p.I1402V|TRPM3_ENST00000423814.3_Missense_Mutation_p.I1429V|TRPM3_ENST00000377105.1_Missense_Mutation_p.I1261V|TRPM3_ENST00000357533.2_Missense_Mutation_p.I1406V|TRPM3_ENST00000360823.2_Missense_Mutation_p.I1264V|TRPM3_ENST00000396280.5_Missense_Mutation_p.I1251V|TRPM3_ENST00000377106.1_Missense_Mutation_p.I1274V	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	NA						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GAGACATAGATGTCTATACAC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	101	104			NA	NA	9		NA											NA				73151789		2203	4300	6503	SO:0001627	intron_variant			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067	80036	80036		Voltage-gated ion channels / Transient receptor potential cation channels	17992	protein-coding gene	gene with protein product	melastatin 2	608961			NA	16382100	Standard	NM_206945	NM_206946	NA	Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.3955+248A>G	9.37:g.73151789T>C		NA	A2A3F6|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.28|18.28	3.590243|3.590243	0.66105|0.66105	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	.|T;T;T;T;T;T;T;T;T;T	.|0.61627	.|0.21;0.1;0.1;0.09;0.2;0.09;0.09;0.1;0.1;0.19	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	.|0.103719	.|0.64402	.|D	.|0.000004	T|T	0.64294|0.64294	0.2585|0.2585	L|L	0.29908|0.29908	0.895|0.895	0.46356|0.46356	D|D	0.999|0.999	.|P;D;P;P;P;P;P	.|0.62365	.|0.876;0.991;0.606;0.803;0.876;0.541;0.803	.|D;D;B;P;D;B;P	.|0.72625	.|0.927;0.978;0.136;0.847;0.927;0.265;0.847	T|T	0.58662|0.58662	-0.7597|-0.7597	5|10	.|0.16896	.|T	.|0.51	-26.045|-26.045	16.5446|16.5446	0.84426|0.84426	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1402;1392;1406;1264;1261;1374;1261	.|Q9HCF6-2;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.|.;.;.;.;.;.;.	R|V	1250|1402;1274;1264;1261;1406;1261;1261;1274;1264;1429	.|ENSP00000366314:I1402V;ENSP00000366310:I1274V;ENSP00000354066:I1264V;ENSP00000366309:I1261V;ENSP00000350140:I1406V;ENSP00000386127:I1261V;ENSP00000379581:I1261V;ENSP00000379587:I1274V;ENSP00000350791:I1264V;ENSP00000389542:I1429V	.|ENSP00000350140:I1406V	H|I	-|-	2|1	0|0	TRPM3|TRPM3	72341609|72341609	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.499000|7.499000	0.81566|0.81566	2.311000|2.311000	0.77944|0.77944	0.533000|0.533000	0.62120|0.62120	CAT|ATC	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000214157.5		-	ENST00000377111.2	Intron	SNP	9 : 73151789 - 73151789 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	344	92
ESYT2	57488	broad.mit.edu	37	7	158534454	158534454	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158534454C>T	ENST00000251527.5	-	17	2074	c.2009G>A	c.(2008-2010)gGc>gAc	p.G670D	ESYT2_ENST00000435514.2_Missense_Mutation_p.G105D	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	698						integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TGTGTTGCTGCCACCAGGGCC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	63	62			NA	NA	7		NA											NA				158534454		2203	4300	6503	SO:0001583	missense			AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868	57488	57488		Synaptotagmins	22211	protein-coding gene	gene with protein product			family with sequence similarity 62 (C2 domain containing), member B	FAM62B	NA	17672888	Standard	NM_020728	NM_020728	NA	Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.2009G>A	7.37:g.158534454C>T	ENSP00000251527:p.Gly670Asp	NA	A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	37	CCDS34791.1	.	.	.	.	.	.	.	.	.	.	C	0.034	-1.315979	0.01331	.	.	ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000435514;ENST00000377650;ENST00000429474	T;T;T	0.19669	2.13;2.13;2.53	5.51	2.48	0.30137	.	0.993034	0.08196	N	0.983139	T	0.07728	0.0194	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.39981	-0.9587	10	0.12430	T	0.62	-26.6989	6.1546	0.20330	0.0:0.4376:0.3875:0.1749	.	670;698	A0FGR8-2;A0FGR8	.;ESYT2_HUMAN	D	670;719;661;105;105;494	ENSP00000251527:G670D;ENSP00000275418:G661D;ENSP00000411488:G105D	ENSP00000251527:G670D	G	-	2	0	ESYT2	158227215	0.005000	0.15991	0.001000	0.08648	0.010000	0.07245	1.079000	0.30766	0.614000	0.30107	0.650000	0.86243	GGC	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322647.1		-	ENST00000251527.5	Missense_Mutation	SNP	7 : 158534454 - 158534454 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	364	60
RIMS2	9699	broad.mit.edu	37	8	104897708	104897708	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104897708G>A	ENST00000436393.2	+	2	456	c.215G>A	c.(214-216)aGg>aAg	p.R72K	RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000507740.1_Missense_Mutation_p.R102K|RIMS2_ENST00000262231.10_Missense_Mutation_p.R102K|RIMS2_ENST00000406091.3_Missense_Mutation_p.R294K			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	325	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTAAGTTATAGGGACTCCAAC	0.408		NA								HNSCC(12;0.0054)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	97	99			NA	NA	8		NA											NA				104897708		1884	4109	5993	SO:0001583	missense			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14			9699	9699			17283	protein-coding gene	gene with protein product		606630	RAB3 interacting protein 3	RAB3IP3	NA	9872452, 12578829	Standard	NM_001100117	NM_014677	NA	Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.215G>A	8.37:g.104897708G>A	ENSP00000390665:p.Arg72Lys	NA	O43413|Q86XL9|Q8IWV9|Q8IWW1	37		.	.	.	.	.	.	.	.	.	.	G	22.9	4.343756	0.82022	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.34859	1.34;1.34;1.89;1.87;1.88;1.85;2.27	5.31	5.31	0.75309	.	.	.	.	.	T	0.58906	0.2155	M	0.65975	2.015	0.80722	D	1	P;P;P;D;D	0.63046	0.774;0.921;0.93;0.977;0.992	B;D;P;P;P	0.65233	0.416;0.933;0.712;0.652;0.854	T	0.60801	-0.7191	9	0.59425	D	0.04	.	18.9666	0.92698	0.0:0.0:1.0:0.0	.	325;72;102;102;294	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	K	294;325;294;325;102;102;102;102;72	ENSP00000427018:R294K;ENSP00000384892:R294K;ENSP00000425205:R102K;ENSP00000262231:R102K;ENSP00000423559:R102K;ENSP00000386228:R102K;ENSP00000390665:R72K	ENSP00000262231:R102K	R	+	2	0	RIMS2	104966884	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.108000	0.89559	2.474000	0.83562	0.460000	0.39030	AGG	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000367217.1		+	ENST00000436393.2	Missense_Mutation	SNP	8 : 104897708 - 104897708 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	419	48
EPHA1	2041	broad.mit.edu	37	7	143098600	143098600	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143098600G>A	ENST00000275815.3	-	3	335	c.249C>T	c.(247-249)tcC>tcT	p.S83S		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	83						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AGATCCAATTGGAGCGAAGCC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	145	148			NA	NA	7		NA											NA				143098600		2203	4300	6503	SO:0001819	synonymous_variant			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2041	2041	2.7.10.1	EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3385	protein-coding gene	gene with protein product		179610	EphA1	EPHT, EPHT1	NA	9267020	Standard		NM_005232	NA	Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.249C>T	7.37:g.143098600G>A		NA	A1L3V3|Q15405	37	CCDS5884.1																																																																																			EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342154.1		-	ENST00000275815.3	Silent	SNP	7 : 143098600 - 143098600 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1311	251
TRPS1	7227	broad.mit.edu	37	8	116616583	116616583	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:116616583C>T	ENST00000395715.3	-	4	2190	c.1613G>A	c.(1612-1614)tGt>tAt	p.C538Y	TRPS1_ENST00000220888.5_Missense_Mutation_p.C525Y|TRPS1_ENST00000520276.1_Missense_Mutation_p.C529Y|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000519674.1_Missense_Mutation_p.C525Y	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	525					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ACAGAACTGACAATTATAGCT	0.463		NA							Langer-Giedion syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	146	147			NA	NA	8		NA											NA				116616583		1902	4125	6027	SO:0001583	missense	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447	7227	7227		GATA zinc finger domain containing, Zinc fingers, C2H2-type	12340	protein-coding gene	gene with protein product		604386			NA	8530105, 10615131, 10647898	Standard	NM_014112	NM_001282903	NA	Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000395715.3:c.1613G>A	8.37:g.116616583C>T	ENSP00000379065:p.Cys538Tyr	NA	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	37	CCDS6318.2	.	.	.	.	.	.	.	.	.	.	C	18.65	3.668845	0.67814	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000520276;ENST00000519674	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.6	5.6	0.85130	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.60766	0.2294	L	0.29908	0.895	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.85130	0.997;0.994;0.997	T	0.63056	-0.6722	10	0.87932	D	0	.	19.9737	0.97296	0.0:1.0:0.0:0.0	.	529;525;538	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	Y	538;525;529;525	ENSP00000379065:C538Y;ENSP00000220888:C525Y;ENSP00000428680:C529Y;ENSP00000429174:C525Y	ENSP00000220888:C525Y	C	-	2	0	TRPS1	116685758	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.419000	0.80179	2.793000	0.96121	0.591000	0.81541	TGT	TRPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286435.3		-	ENST00000395715.3	Missense_Mutation	SNP	8 : 116616583 - 116616583 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	863	148
CIT	11113	broad.mit.edu	37	12	120135797	120135797	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120135797C>T	ENST00000392521.2	-	45	5741	c.5686G>A	c.(5686-5688)Gca>Aca	p.A1896T	CIT_ENST00000261833.7_Missense_Mutation_p.A1854T|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1854					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GAGGAGCGTGCCTGGATCTCA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													231	209	217			NA	NA	12		NA											NA				120135797		2203	4300	6503	SO:0001583	missense			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966	11113	11113			1985	protein-coding gene	gene with protein product	serine/threonine kinase 21	605629	citron (rho-interacting, serine/threonine kinase 21)		NA	9792683	Standard	NM_007174	NM_001206999	NA	Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000392521.2:c.5686G>A	12.37:g.120135797C>T	ENSP00000376306:p.Ala1896Thr	NA	Q6XUH8|Q86UQ9|Q9UPZ7	37	CCDS55891.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.636663	0.67130	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.03689	3.84;3.84	5.34	5.34	0.76211	Citron-like (3);	0.133331	0.49305	D	0.000142	T	0.05227	0.0139	L	0.29908	0.895	0.50813	D	0.999892	P;B;B	0.35793	0.521;0.149;0.013	B;B;B	0.38378	0.272;0.098;0.031	T	0.55276	-0.8166	10	0.29301	T	0.29	.	19.4207	0.94720	0.0:1.0:0.0:0.0	.	1896;1854;1372	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	T	1896;1854	ENSP00000376306:A1896T;ENSP00000261833:A1854T	ENSP00000261833:A1854T	A	-	1	0	CIT	118620180	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	3.649000	0.54417	2.653000	0.90120	0.655000	0.94253	GCA	CIT-005	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401847.1		-	ENST00000392521.2	Missense_Mutation	SNP	12 : 120135797 - 120135797 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1217	103
C2CD2L	9854	broad.mit.edu	37	11	118984415	118984415	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118984415C>T	ENST00000528586.1	+	7	796	c.726C>T	c.(724-726)agC>agT	p.S242S	C2CD2L_ENST00000336702.3_Silent_p.S494S			O14523	C2C2L_HUMAN	C2CD2-like	494						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CCTCCCATAGCAGCAGCCGTG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	89	90			NA	NA	11		NA											NA				118984415		2200	4295	6495	SO:0001819	synonymous_variant			AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375	9854	9854			29000	protein-coding gene	gene with protein product			transmembrane protein 24	TMEM24	NA	15289880	Standard	NM_014807	XM_005271738	NA	Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.726C>T	11.37:g.118984415C>T		NA	Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	37																																																																																				C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000388199.2		+	ENST00000528586.1	Silent	SNP	11 : 118984415 - 118984415 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	496	87
GRIN2B	2904	broad.mit.edu	37	12	13716563	13716563	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13716563G>A	ENST00000609686.1	-	13	3818	c.3609C>T	c.(3607-3609)aaC>aaT	p.N1203N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	NA					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCCACTCCACGTTGGTCAGGT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	101	99			NA	NA	12		NA											NA				13716563		2203	4300	6503	SO:0001819	synonymous_variant				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079		2904	2904		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4586	protein-coding gene	gene with protein product		138252		NMDAR2B	NA	1350383	Standard		NM_000834	NA	Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3609C>T	12.37:g.13716563G>A		NA	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	37	CCDS8662.1																																																																																			GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268014.2		-	ENST00000609686.1	Silent	SNP	12 : 13716563 - 13716563 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	716	163
TRMT10A	93587	broad.mit.edu	37	4	100470276	100470276	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100470276G>A	ENST00000273962.3	-	8	1301	c.989C>T	c.(988-990)aCt>aTt	p.T330I	TRMT10A_ENST00000394876.2_Missense_Mutation_p.T330I|TRMT10A_ENST00000394877.3_Missense_Mutation_p.T330I	NM_152292.4	NP_689505.1			tRNA methyltransferase 10 homolog A (S. cerevisiae)	NA											NA						TGTAGATTCAGTGTGATTTTC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													222	197	206			NA	NA	4		NA											NA				100470276		2203	4300	6503	SO:0001583	missense			BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331	93587	93587			28403	protein-coding gene	gene with protein product			RNA (guanine-9-) methyltransferase domain containing 2	RG9MTD2	NA	12477932	Standard	NM_152292	NM_152292	NA	Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.989C>T	4.37:g.100470276G>A	ENSP00000273962:p.Thr330Ile	NA		37	CCDS3650.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.579851	0.28180	.	.	ENSG00000145331	ENST00000394877;ENST00000273962;ENST00000394876	T;T;T	0.18016	2.24;2.24;2.24	5.4	3.65	0.41850	.	2.068660	0.01640	N	0.023991	T	0.13286	0.0322	N	0.14661	0.345	0.09310	N	1	B	0.18741	0.03	B	0.18561	0.022	T	0.22977	-1.0201	10	0.56958	D	0.05	-0.0014	6.8365	0.23939	0.1592:0.1461:0.6947:0.0	.	330	Q8TBZ6	RG9D2_HUMAN	I	330	ENSP00000378343:T330I;ENSP00000273962:T330I;ENSP00000378342:T330I	ENSP00000273962:T330I	T	-	2	0	RG9MTD2	100689299	0.001000	0.12720	0.002000	0.10522	0.057000	0.15508	0.738000	0.26158	0.747000	0.32809	0.655000	0.94253	ACT	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253668.1		-	ENST00000273962.3	Missense_Mutation	SNP	4 : 100470276 - 100470276 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	605	111
BABAM1	29086	broad.mit.edu	37	19	17379674	17379674	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17379674C>T	ENST00000359435.4	+	2	252	c.59C>T	c.(58-60)tCg>tTg	p.S20L	CTD-2278I10.6_ENST00000596542.1_5'UTR|BABAM1_ENST00000598188.1_Missense_Mutation_p.S20L|BABAM1_ENST00000595632.1_Missense_Mutation_p.S20L|BABAM1_ENST00000447614.2_Missense_Mutation_p.S20L|BABAM1_ENST00000448635.2_3'UTR|BABAM1_ENST00000601043.1_Missense_Mutation_p.S20L	NM_001033549.1	NP_001028721.1	Q9NWV8	BABA1_HUMAN	BRISC and BRCA1 A complex member 1	20					chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|protein K63-linked deubiquitination|response to ionizing radiation	BRCA1-A complex|BRISC complex|cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						GAGGAGCACTCGGCAGAGCCT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													10	14	13			NA	NA	19		NA											NA				17379674		2025	4164	6189	SO:0001583	missense			AK000578	CCDS46012.1, CCDS74310.1	19p13.11	2011-02-21	2011-02-21	2011-01-31	ENSG00000105393	ENSG00000105393	29086	29086			25008	protein-coding gene	gene with protein product	Mediator of Rap80 Interactions and Targeting 40 kD, new component of the BRCA1 A complex	612766	chromosome 19 open reading frame 62	C19orf62	NA	11042152	Standard	NM_014173	NM_001288756	NA	Approved	FLJ20571, HSPC142, NBA1, MERIT40	uc002nfv.3	Q9NWV8		ENST00000359435.4:c.59C>T	19.37:g.17379674C>T	ENSP00000352408:p.Ser20Leu	NA	A8MQT0|B4DRY9|B4DVR1|Q6FIA0|Q9P018	37	CCDS46012.1	.	.	.	.	.	.	.	.	.	.	C	6.805	0.517622	0.13005	.	.	ENSG00000105393	ENST00000359435;ENST00000447614;ENST00000448635	.	.	.	4.86	2.55	0.30701	.	1.154760	0.06234	N	0.689250	T	0.19248	0.0462	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.0	T	0.19418	-1.0306	9	0.23891	T	0.37	-6.4354	6.5372	0.22361	0.1847:0.711:0.0:0.1044	.	20;20	Q9NWV8-3;Q9NWV8	.;BABA1_HUMAN	L	20	.	ENSP00000352408:S20L	S	+	2	0	BABAM1	17240674	0.000000	0.05858	0.007000	0.13788	0.013000	0.08279	0.073000	0.14640	1.204000	0.43247	0.655000	0.94253	TCG	BABAM1-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463471.1		+	ENST00000359435.4	Missense_Mutation	SNP	19 : 17379674 - 17379674 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	94	27
PDCD11	22984	broad.mit.edu	37	10	105198541	105198541	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105198541T>C	ENST00000369797.3	+	27	4095	c.4001T>C	c.(4000-4002)aTc>aCc	p.I1334T		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1334	S1 motif 12.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTAGGGTCCATCCAGCCACAC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	114	113			NA	NA	10		NA											NA				105198541		2203	4300	6503	SO:0001583	missense			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843	22984	22984			13408	protein-coding gene	gene with protein product		612333			NA	10229231	Standard		XM_005269647	NA	Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.4001T>C	10.37:g.105198541T>C	ENSP00000358812:p.Ile1334Thr	NA	Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	37	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	T	12.73	2.025769	0.35701	.	.	ENSG00000148843	ENST00000369797	T	0.21031	2.03	5.62	5.62	0.85841	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (1);	0.295434	0.37053	N	0.002264	T	0.23094	0.0558	L	0.53729	1.69	0.09310	N	1	B	0.32717	0.381	B	0.30029	0.11	T	0.14090	-1.0485	10	0.44086	T	0.13	-3.134	15.8248	0.78690	0.0:0.0:0.0:1.0	.	1334	Q14690	RRP5_HUMAN	T	1334	ENSP00000358812:I1334T	ENSP00000358812:I1334T	I	+	2	0	PDCD11	105188531	0.846000	0.29590	0.017000	0.16124	0.003000	0.03518	6.593000	0.74100	2.140000	0.66376	0.459000	0.35465	ATC	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050151.1		+	ENST00000369797.3	Missense_Mutation	SNP	10 : 105198541 - 105198541 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	460	38
TUBA1A	7846	broad.mit.edu	37	12	49579133	49579133	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49579133C>T	ENST00000295766.5	-	4	1495	c.1016G>A	c.(1015-1017)cGt>cAt	p.R339H	TUBA1A_ENST00000550767.1_Missense_Mutation_p.R304H|TUBA1A_ENST00000301071.7_Missense_Mutation_p.R339H	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	339					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						CTGGATGGTACGCTTGGTCTT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)							NA				0													114	92	100			NA	NA	12		NA											NA				49579133		2203	4300	6503	SO:0001583	missense			AF141347	CCDS8781.1, CCDS58226.1, CCDS58227.1	12q13.12	2007-02-07					7846	7846		Tubulins	20766	protein-coding gene	gene with protein product	tubulin, alpha, brain-specific	602529			NA	11504633, 3839072	Standard	NM_006009	NM_006009	NA	Approved	TUBA3, B-ALPHA-1, FLJ25113	uc010smg.1	Q71U36	OTTHUMG00000169511	ENST00000295766.5:c.1016G>A	12.37:g.49579133C>T	ENSP00000439020:p.Arg339His	NA	A8K0B8|P04687|P05209	37	CCDS58227.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086823	0.36855	.	.	ENSG00000167552	ENST00000301071;ENST00000548405;ENST00000295766;ENST00000550767	D;D;D	0.84146	-1.81;-1.81;-1.81	5.1	5.1	0.69264	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86096	0.5851	M	0.74467	2.265	0.80722	D	1	B	0.09022	0.002	B	0.19666	0.026	D	0.84226	0.0464	10	0.87932	D	0	.	17.3657	0.87363	0.0:1.0:0.0:0.0	.	339	Q71U36	TBA1A_HUMAN	H	339;186;339;304	ENSP00000301071:R339H;ENSP00000439020:R339H;ENSP00000446637:R304H	ENSP00000439020:R339H	R	-	2	0	TUBA1A	47865400	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.565000	0.67365	2.391000	0.81399	0.556000	0.70494	CGT	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404547.2		-	ENST00000295766.5	Missense_Mutation	SNP	12 : 49579133 - 49579133 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	89
TECTA	7007	broad.mit.edu	37	11	121000350	121000350	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121000350A>G	ENST00000392793.1	+	10	2642	c.2371A>G	c.(2371-2373)Aat>Gat	p.N791D	TECTA_ENST00000264037.2_Missense_Mutation_p.N791D			O75443	TECTA_HUMAN	tectorin alpha	791	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTTTCAGTTGAATGGTCAGGA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	148	148			NA	NA	11		NA											NA				121000350		2203	4299	6502	SO:0001583	missense			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927	7007	7007			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21	NA	9503015, 9590290	Standard	NM_005422	NM_005422	NA	Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2371A>G	11.37:g.121000350A>G	ENSP00000376543:p.Asn791Asp	NA		37	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.230020	0.79688	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.64803	-0.12;-0.12	4.99	4.99	0.66335	von Willebrand factor, type D domain (3);	0.000000	0.85682	D	0.000000	T	0.73497	0.3594	L	0.60455	1.87	0.46376	D	0.999019	D	0.76494	0.999	D	0.83275	0.996	T	0.69687	-0.5078	10	0.17832	T	0.49	.	14.6911	0.69087	1.0:0.0:0.0:0.0	.	791	O75443	TECTA_HUMAN	D	791	ENSP00000376543:N791D;ENSP00000264037:N791D	ENSP00000264037:N791D	N	+	1	0	TECTA	120505560	1.000000	0.71417	0.772000	0.31596	0.810000	0.45777	8.522000	0.90573	1.886000	0.54624	0.460000	0.39030	AAT	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313850.1		+	ENST00000392793.1	Missense_Mutation	SNP	11 : 121000350 - 121000350 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	377	82
STAM2	10254	broad.mit.edu	37	2	152992061	152992061	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152992061T>G	ENST00000263904.4	-	8	1110	c.761A>C	c.(760-762)aAt>aCt	p.N254T		NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	254	SH3.			N -> D (in Ref. 2; CAB63735).	cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		TGTTACAAAATTGGATGGGAA	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	114	112			NA	NA	2		NA											NA				152992061		2203	4299	6502	SO:0001583	missense			AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145	10254	10254			11358	protein-coding gene	gene with protein product	HSE1 homolog (S. cerevisiae)	606244			NA	10899310, 10993906	Standard	NM_005843	NM_005843	NA	Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.761A>C	2.37:g.152992061T>G	ENSP00000263904:p.Asn254Thr	NA	A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	37	CCDS2196.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.063769	0.76187	.	.	ENSG00000115145	ENST00000263904	T	0.37411	1.2	5.55	4.36	0.52297	Src homology-3 domain (4);	0.041476	0.85682	D	0.000000	T	0.48390	0.1497	L	0.50919	1.6	0.80722	D	1	D;D	0.60575	0.982;0.988	P;P	0.61070	0.883;0.858	T	0.40997	-0.9533	10	0.48119	T	0.1	-18.2276	11.6591	0.51337	0.0:0.0704:0.0:0.9296	.	254;254	O75886-2;O75886	.;STAM2_HUMAN	T	254	ENSP00000263904:N254T	ENSP00000263904:N254T	N	-	2	0	STAM2	152700307	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.762000	0.68809	0.897000	0.36392	0.460000	0.39030	AAT	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254835.2		-	ENST00000263904.4	Missense_Mutation	SNP	2 : 152992061 - 152992061 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	531	145
IFLTD1	0	broad.mit.edu	37	12	25702320	25702320	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25702320T>G	ENST00000282881.6	-	2	336	c.187A>C	c.(187-189)Act>Cct	p.T63P	IFLTD1_ENST00000413632.2_Missense_Mutation_p.T84P|IFLTD1_ENST00000539744.1_5'UTR|IFLTD1_ENST00000458174.2_Missense_Mutation_p.T84P|IFLTD1_ENST00000445693.1_Intron	NM_152590.3	NP_689803.2	Q8N9Z9	ILFT1_HUMAN		63						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					AATTGTCCAGTTGTTGATATA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	63	66			NA	NA	12		NA											NA				25702320		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000282881.6:c.187A>C	12.37:g.25702320T>G	ENSP00000282881:p.Thr63Pro	NA	B4DL27|B4DY70|Q8IY38	37	CCDS8704.1	.	.	.	.	.	.	.	.	.	.	T	8.138	0.784586	0.16189	.	.	ENSG00000152936	ENST00000282881;ENST00000458174;ENST00000413632;ENST00000538178;ENST00000540106;ENST00000542224	T;T;T	0.14640	2.7;2.71;2.49	3.7	-3.36	0.04913	.	.	.	.	.	T	0.06188	0.0160	N	0.14661	0.345	0.09310	N	1	B;B;B	0.34161	0.439;0.439;0.312	B;B;B	0.32762	0.152;0.152;0.072	T	0.32587	-0.9901	9	0.40728	T	0.16	-4.1793	4.3876	0.11325	0.17:0.4187:0.0:0.4113	.	84;84;63	Q8N9Z9-5;Q8N9Z9-4;Q8N9Z9	.;.;ILFT1_HUMAN	P	63;84;84;38;38;38	ENSP00000282881:T63P;ENSP00000407353:T84P;ENSP00000393150:T84P	ENSP00000282881:T63P	T	-	1	0	IFLTD1	25593587	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.468000	0.02350	-0.697000	0.05092	0.528000	0.53228	ACT	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402279.1		-	ENST00000282881.6	Missense_Mutation	SNP	12 : 25702320 - 25702320 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	199	34
DIDO1	11083	broad.mit.edu	37	20	61525063	61525063	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61525063G>A	ENST00000266070.4	-	12	3381	c.3056C>T	c.(3055-3057)tCt>tTt	p.S1019F	DIDO1_ENST00000395343.1_Missense_Mutation_p.S1019F|DIDO1_ENST00000395340.1_Missense_Mutation_p.S1019F|DIDO1_ENST00000395335.2_Missense_Mutation_p.S1019F	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1019					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGGGTCAGGAGATGAGGATGG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)							NA				0													111	93	99			NA	NA	20		NA											NA				61525063		2203	4300	6503	SO:0001583	missense			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191	11083	11083		Zinc fingers, PHD-type	2680	protein-coding gene	gene with protein product		604140	chromosome 20 open reading frame 158, death associated transcription factor 1	C20orf158, DATF1	NA	10393935	Standard	NM_080796	NM_033081	NA	Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3056C>T	20.37:g.61525063G>A	ENSP00000266070:p.Ser1019Phe	NA	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	37	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.277045	0.40294	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.13089	2.93;2.93;2.62;2.62	5.95	4.82	0.62117	.	0.220212	0.22789	U	0.055622	T	0.29652	0.0740	M	0.66939	2.045	0.46954	D	0.999263	D;D	0.64830	0.992;0.994	P;P	0.57502	0.822;0.809	T	0.00655	-1.1624	10	0.72032	D	0.01	-45.4857	13.2992	0.60315	0.0851:0.0:0.9149:0.0	.	1019;1019	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	F	1019	ENSP00000266070:S1019F;ENSP00000378752:S1019F;ENSP00000378749:S1019F;ENSP00000378744:S1019F	ENSP00000266070:S1019F	S	-	2	0	DIDO1	60995508	1.000000	0.71417	0.111000	0.21465	0.014000	0.08584	5.485000	0.66850	2.824000	0.97209	0.655000	0.94253	TCT	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080091.2		-	ENST00000266070.4	Missense_Mutation	SNP	20 : 61525063 - 61525063 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	581	121
NTNG2	84628	broad.mit.edu	37	9	135102389	135102389	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135102389C>T	ENST00000393229.3	+	4	1787	c.1011C>T	c.(1009-1011)ccC>ccT	p.P337P	NTNG2_ENST00000372179.3_Silent_p.P337P|NTNG2_ENST00000393228.4_Silent_p.P337P|NTNG2_ENST00000360670.3_Silent_p.P337P	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	337	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		TGCCGCTGCCCCATGGCTCTC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	25	25			NA	NA	9		NA											NA				135102389		2203	4298	6501	SO:0001819	synonymous_variant			AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358	84628	84628		Netrins	14288	protein-coding gene	gene with protein product	Netrin-G2		netrin G1	NTNG1	NA		Standard	NM_032536	NM_032536	NA	Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.1011C>T	9.37:g.135102389C>T		NA	Q5JUJ2|Q6UXY0|Q96JH0	37	CCDS6946.1																																																																																			NTNG2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054779.1		+	ENST00000393229.3	Silent	SNP	9 : 135102389 - 135102389 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	173	16
TENM3	55714	broad.mit.edu	37	4	183675541	183675541	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:183675541C>T	ENST00000511685.1	+	22	4144	c.4021C>T	c.(4021-4023)Cgt>Tgt	p.R1341C	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.R1341C					teneurin transmembrane protein 3	NA											NA						TATTAAGGTACGTCTGGAATG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	24	25			NA	NA	4		NA											NA				183675541		1858	4104	5962	SO:0001583	missense			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336	55714	55714			29944	protein-coding gene	gene with protein product		610083	odz, odd Oz/ten-m homolog 3 (Drosophila)	ODZ3	NA	10331952, 10625539	Standard		NM_001080477	NA	Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.4021C>T	4.37:g.183675541C>T	ENSP00000424226:p.Arg1341Cys	NA		37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	.	18.91	3.723418	0.68959	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.87491	-2.26;-2.26	5.58	5.58	0.84498	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	D	0.89928	0.6857	M	0.83012	2.62	0.80722	D	1	D	0.69078	0.997	B	0.44315	0.446	D	0.91588	0.5284	9	0.87932	D	0	.	19.769	0.96353	0.0:1.0:0.0:0.0	.	1341	Q9P273	TEN3_HUMAN	C	1341	ENSP00000424226:R1341C;ENSP00000385276:R1341C	ENSP00000385276:R1341C	R	+	1	0	ODZ3	183912535	1.000000	0.71417	0.961000	0.40146	0.828000	0.46876	6.002000	0.70693	2.906000	0.99361	0.655000	0.94253	CGT	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361734.1		+	ENST00000511685.1	Missense_Mutation	SNP	4 : 183675541 - 183675541 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	41	5
ATHL1	80162	broad.mit.edu	37	11	290822	290822	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:290822C>T	ENST00000409655.1	+	4	650	c.84C>T	c.(82-84)ggC>ggT	p.G28G	ATHL1_ENST00000409479.1_Silent_p.G205G|ATHL1_ENST00000409548.2_Silent_p.G205G			Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	205					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		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;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CAGCAGTGGGCGGCAGCCAGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	46	47			NA	NA	11		NA											NA				290822		2203	4300	6503	SO:0001819	synonymous_variant			AK090428	CCDS31322.2	11p15.5	2005-10-27			ENSG00000142102	ENSG00000142102	80162	80162			26210	protein-coding gene	gene with protein product					NA		Standard	NM_025092	NM_025092	NA	Approved	FLJ22635	uc010qvu.2	Q32M88	OTTHUMG00000153218	ENST00000409655.1:c.84C>T	11.37:g.290822C>T		NA	Q658X8|Q8TEG9|Q9H635	37																																																																																				ATHL1-001	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000330161.1		+	ENST00000409655.1	Silent	SNP	11 : 290822 - 290822 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	82
ANK3	288	broad.mit.edu	37	10	61834648	61834648	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61834648G>A	ENST00000280772.2	-	37	6182	c.5991C>T	c.(5989-5991)atC>atT	p.I1997I	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	NA					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGGCTTCCCGGATTTCTTCCG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	73	72			NA	NA	10		NA											NA				61834648		2203	4300	6503	SO:0001819	synonymous_variant			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150	288	288		Ankyrin repeat domain containing	494	protein-coding gene	gene with protein product	ankyrin-3, node of Ranvier, ankyrin-G	600465			NA	7665168	Standard	NM_020987	NM_020987	NA	Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.5991C>T	10.37:g.61834648G>A		NA	Q5VXD5	37	CCDS7258.1																																																																																			ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048201.4		-	ENST00000280772.2	Silent	SNP	10 : 61834648 - 61834648 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	388	14
PRKCB	5579	broad.mit.edu	37	16	24192159	24192159	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24192159G>T	ENST00000303531.7	+	13	1595	c.1443G>T	c.(1441-1443)aaG>aaT	p.K481N	PRKCB_ENST00000321728.7_Missense_Mutation_p.K481N	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	481	Protein kinase.				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)	GACACATCAAGATTGCCGATT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													205	178	187			NA	NA	16		NA											NA				24192159		2197	4300	6497	SO:0001583	missense			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	ENST00000303531.7:c.1443G>T	16.37:g.24192159G>T	ENSP00000305355:p.Lys481Asn	NA	C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	37	CCDS10619.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489032	0.84962	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.38887	1.11;1.11	5.9	3.93	0.45458	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70254	0.3203	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76987	-0.2755	10	0.87932	D	0	.	10.5616	0.45148	0.1552:0.0:0.8448:0.0	.	481;481	P05771-2;P05771	.;KPCB_HUMAN	N	481	ENSP00000318315:K481N;ENSP00000305355:K481N	ENSP00000305355:K481N	K	+	3	2	PRKCB	24099660	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.372000	0.44257	1.467000	0.48044	0.650000	0.86243	AAG	PRKCB-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254505.1		+	ENST00000303531.7	Missense_Mutation	SNP	16 : 24192159 - 24192159 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	710	137
RACGAP1	29127	broad.mit.edu	37	12	50386039	50386039	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50386039G>A	ENST00000548961.1	-	1	102	c.97C>T	c.(97-99)Cgt>Tgt	p.R33C	RACGAP1_ENST00000454520.2_Missense_Mutation_p.R523C|RACGAP1_ENST00000547905.1_Missense_Mutation_p.R523C|RACGAP1_ENST00000312377.5_Missense_Mutation_p.R523C|RACGAP1_ENST00000551016.1_Missense_Mutation_p.R523C|RACGAP1_ENST00000434422.1_Missense_Mutation_p.R523C|RACGAP1_ENST00000427314.2_Missense_Mutation_p.R523C			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	523					blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TTGGGTTGACGCTTGATGTCC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	141	146			NA	NA	12		NA											NA				50386039		2203	4300	6503	SO:0001583	missense				CCDS8795.1	12q13	2004-05-17				ENSG00000161800	29127	29127			9804	protein-coding gene	gene with protein product		604980			NA	9497316	Standard	NM_013277	NM_013277	NA	Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000548961.1:c.97C>T	12.37:g.50386039G>A	ENSP00000446889:p.Arg33Cys	NA	Q6PJ26|Q9NWN2|Q9P250|Q9P2W2	37		.	.	.	.	.	.	.	.	.	.	G	15.67	2.903173	0.52333	.	.	ENSG00000161800	ENST00000548961;ENST00000427314;ENST00000312377;ENST00000434422;ENST00000454520;ENST00000551016;ENST00000547905;ENST00000549342	T;T;T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93	6.06	5.17	0.71159	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.048722	0.85682	D	0.000000	T	0.25269	0.0614	M	0.74647	2.275	0.80722	D	1	P	0.36171	0.541	B	0.22386	0.039	T	0.06499	-1.0823	10	0.42905	T	0.14	-1.5039	11.026	0.47744	0.0664:0.0:0.8044:0.1292	.	523	Q9H0H5	RGAP1_HUMAN	C	33;523;523;523;523;523;523;259	ENSP00000446889:R33C;ENSP00000404190:R523C;ENSP00000309871:R523C;ENSP00000413241:R523C;ENSP00000404808:R523C;ENSP00000449374:R523C;ENSP00000449370:R523C;ENSP00000449565:R259C	ENSP00000309871:R523C	R	-	1	0	RACGAP1	48672306	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.669000	0.68081	1.572000	0.49736	0.650000	0.86243	CGT	RACGAP1-017	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000406031.2		-	ENST00000548961.1	Missense_Mutation	SNP	12 : 50386039 - 50386039 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	810	147
SYN3	8224	broad.mit.edu	37	22	33265005	33265005	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:33265005G>T	ENST00000358763.2	-	5	811	c.569C>A	c.(568-570)cCt>cAt	p.P190H	SYN3_ENST00000332840.5_Missense_Mutation_p.P190H	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	190	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GTTGACAGCAGGCAGCCCTCC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	56	61			NA	NA	22		NA											NA				33265005		2203	4300	6503	SO:0001583	missense			AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666	8224	8224			11496	protein-coding gene	gene with protein product		602705			NA	9539796	Standard		NM_003490	NA	Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.569C>A	22.37:g.33265005G>T	ENSP00000351614:p.Pro190His	NA		37	CCDS13908.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319821	0.60634	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000390686	T;T	0.44083	0.93;0.93	5.87	5.87	0.94306	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Synapsin, pre-ATP-grasp domain (1);	0.067659	0.64402	D	0.000014	T	0.42268	0.1195	M	0.70275	2.135	0.80722	D	1	P;B;P	0.44260	0.83;0.434;0.83	B;B;B	0.34536	0.185;0.131;0.185	T	0.51356	-0.8716	10	0.72032	D	0.01	-3.5917	16.1994	0.82060	0.0:0.0:0.8592:0.1408	.	189;190;190	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	H	190	ENSP00000351614:P190H;ENSP00000330219:P190H	ENSP00000330219:P190H	P	-	2	0	SYN3	31595005	1.000000	0.71417	0.987000	0.45799	0.744000	0.42396	7.538000	0.82048	2.941000	0.99782	0.655000	0.94253	CCT	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075892.4		-	ENST00000358763.2	Missense_Mutation	SNP	22 : 33265005 - 33265005 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	200	33
GINM1	116254	broad.mit.edu	37	6	149901847	149901847	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:149901847A>G	ENST00000367419.5	+	6	826	c.705A>G	c.(703-705)ccA>ccG	p.P235P		NM_138785.3	NP_620140.1			glycoprotein integral membrane 1	NA											NA						CAGAGCCGCCATCTTCATATA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	74	76			NA	NA	6		NA											NA				149901847		2203	4300	6503	SO:0001819	synonymous_variant			BC014320	CCDS5216.1	6q24.3	2012-07-20	2012-07-20	2012-07-20	ENSG00000055211	ENSG00000055211	116254	116254			21074	protein-coding gene	gene with protein product			chromosome 6 open reading frame 72	C6orf72	NA		Standard	NM_138785	NM_138785	NA	Approved	dJ12G14.2	uc003qmq.1	Q9NU53	OTTHUMG00000015789	ENST00000367419.5:c.705A>G	6.37:g.149901847A>G		NA		37	CCDS5216.1																																																																																			GINM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042644.1		+	ENST00000367419.5	Silent	SNP	6 : 149901847 - 149901847 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	306	60
MR1	3140	broad.mit.edu	37	1	181021609	181021609	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181021609G>A	ENST00000367580.5	+	4	848	c.843G>A	c.(841-843)gaG>gaA	p.E281E	MR1_ENST00000438435.2_Intron|MR1_ENST00000282990.6_Intron|MR1_ENST00000434571.2_Intron|MR1_ENST00000367579.3_Silent_p.E236E	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	281	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						GTCATGTGGAGCACTGCGGTG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(174;1412 1962 45296 46549 47110)							NA				0													60	65	63			NA	NA	1		NA											NA				181021609		2203	4300	6503	SO:0001819	synonymous_variant			AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029	3140	3140		Immunoglobulin superfamily / C1-set domain containing	4975	protein-coding gene	gene with protein product		600764	major histocompatibility complex, class I-like sequence	HLALS	NA	7624800, 9784382	Standard	NM_001531	NM_001194999	NA	Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.843G>A	1.37:g.181021609G>A		NA	A8K2V9|O97985|O97986|Q53GM1|Q95HB8|Q9NPL2|Q9TQB9|Q9TQK3	37	CCDS1342.1																																																																																			MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085134.2		+	ENST00000367580.5	Silent	SNP	1 : 181021609 - 181021609 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	33
DLL1	28514	broad.mit.edu	37	6	170592486	170592486	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170592486G>A	ENST00000366756.3	-	9	2214	c.1881C>T	c.(1879-1881)gcC>gcT	p.A627A		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	627					cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CATTCTTGTCGGCGCTGTGGT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4405	2.1+/-5.4	0,1,2202	229	191	204		1881	-7.9	0	6		204	0,8600		0,0,4300	no	coding-synonymous	DLL1	NM_005618.3		0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077		627/724	170592486	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719	28514	28514			2908	protein-coding gene	gene with protein product		606582	delta (Drosophila)-like 1		NA		Standard		NM_005618	NA	Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.1881C>T	6.37:g.170592486G>A		NA	B2RAK7|Q9NU41|Q9UJV2	37	CCDS5313.1																																																																																			DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043254.1		-	ENST00000366756.3	Silent	SNP	6 : 170592486 - 170592486 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	784	134
MYLK	4638	broad.mit.edu	37	3	123367851	123367851	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123367851G>A	ENST00000360772.3	-	27	4760	c.4382C>T	c.(4381-4383)tCt>tTt	p.S1461F	MYLK_ENST00000360304.3_Missense_Mutation_p.S1461F|MYLK_ENST00000346322.5_Missense_Mutation_p.S1392F|MYLK_ENST00000359169.1_Missense_Mutation_p.S1461F|MYLK_ENST00000475616.1_Missense_Mutation_p.S1461F|MYLK_ENST00000354792.5_Missense_Mutation_p.S261F			Q15746	MYLK_HUMAN	myosin light chain kinase	1461					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GTAGAAGTCAGATACTTTTTG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													236	212	220			NA	NA	3		NA											NA				123367851		2203	4300	6503	SO:0001583	missense			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	4638	4638	2.7.11.18	Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	7590	protein-coding gene	gene with protein product	smooth muscle myosin light chain kinase	600922	myosin, light polypeptide kinase		NA	8575746	Standard	NM_053025	NM_053026	NA	Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000360772.3:c.4382C>T	3.37:g.123367851G>A	ENSP00000354004:p.Ser1461Phe	NA	O95796|O95797|O95798|O95799|Q14844|Q16794|Q5MY99|Q5MYA0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UIT9	37	CCDS3023.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506591	0.64410	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11	4.82	4.82	0.62117	Protein kinase-like domain (1);	.	.	.	.	T	0.32406	0.0828	N	0.14661	0.345	0.36762	D	0.883317	P;D;P;P;P	0.53885	0.828;0.963;0.895;0.936;0.736	P;P;P;P;B	0.46940	0.532;0.528;0.532;0.528;0.332	T	0.17561	-1.0365	9	0.12766	T	0.61	.	18.2408	0.89967	0.0:0.0:1.0:0.0	.	1461;1392;1461;1392;1461	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	F	1461;1461;1461;1392;261;1461	ENSP00000354004:S1461F;ENSP00000353452:S1461F;ENSP00000352088:S1461F;ENSP00000320622:S1392F;ENSP00000346846:S261F;ENSP00000418335:S1461F	ENSP00000320622:S1392F	S	-	2	0	MYLK	124850541	0.994000	0.37717	0.999000	0.59377	0.908000	0.53690	4.640000	0.61368	2.370000	0.80446	0.650000	0.86243	TCT	MYLK-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280599.2		-	ENST00000360772.3	Missense_Mutation	SNP	3 : 123367851 - 123367851 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	536	115
DNAI2	64446	broad.mit.edu	37	17	72308348	72308348	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72308348C>T	ENST00000579490.1	+	11	2007	c.1872C>T	c.(1870-1872)gcC>gcT	p.A624A	DNAI2_ENST00000582036.1_Silent_p.A555A|DNAI2_ENST00000307504.5_Intron|DNAI2_ENST00000446837.2_Silent_p.A567A|DNAI2_ENST00000311014.6_Silent_p.A567A			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	567					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGGCAGACGCCATAAAGCTGA	0.607		NA							Kartagener syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	32	35			NA	NA	17		NA											NA				72308348		2203	4299	6502	SO:0001819	synonymous_variant	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595	64446	64446		Axonemal dyneins, WD repeat domain containing	18744	protein-coding gene	gene with protein product	dynein intermediate chain 2	605483	dynein, axonemal, intermediate polypeptide 2		NA	11153919, 21953912	Standard	NM_023036	NM_023036	NA	Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000579490.1:c.1872C>T	17.37:g.72308348C>T		NA	C9J0S6|Q8IUW4|Q9H179|Q9NT53	37																																																																																				DNAI2-004	PUTATIVE	NMD_exception|basic	protein_coding	NA	protein_coding	OTTHUMT00000442538.1		+	ENST00000579490.1	Silent	SNP	17 : 72308348 - 72308348 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	118	13
CASKIN1	57524	broad.mit.edu	37	16	2236773	2236773	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2236773C>T	ENST00000343516.6	-	10	1075	c.983G>A	c.(982-984)cGg>cAg	p.R328Q		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	328	SH3.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						ATTGCCCGTCCGGTTGTCATG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	41	40			NA	NA	16		NA											NA				2236773		2024	4155	6179	SO:0001583	missense			AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971	57524	57524		Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	20879	protein-coding gene	gene with protein product		612184			NA	12040031	Standard	NM_020764	NM_020764	NA	Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.983G>A	16.37:g.2236773C>T	ENSP00000345436:p.Arg328Gln	NA	Q9P2P0	37	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901262	0.72754	.	.	ENSG00000167971	ENST00000343516;ENST00000382453	T	0.16743	2.32	4.65	4.65	0.58169	Src homology-3 domain (3);Variant SH3 (1);	.	.	.	.	T	0.08670	0.0215	N	0.01352	-0.895	0.58432	D	0.999999	P	0.51537	0.946	P	0.50490	0.642	T	0.21143	-1.0254	9	0.02654	T	1	-28.9012	16.6164	0.84917	0.0:1.0:0.0:0.0	.	328	Q8WXD9	CSKI1_HUMAN	Q	328;157	ENSP00000345436:R328Q	ENSP00000345436:R328Q	R	-	2	0	CASKIN1	2176774	0.983000	0.35010	1.000000	0.80357	0.994000	0.84299	1.815000	0.38981	2.577000	0.86979	0.563000	0.77884	CGG	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000435055.1		-	ENST00000343516.6	Missense_Mutation	SNP	16 : 2236773 - 2236773 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	410	87
SMG6	23293	broad.mit.edu	37	17	2139876	2139876	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2139876G>A	ENST00000263073.6	-	10	2829	c.2779C>T	c.(2779-2781)Ctg>Ttg	p.L927L	SMG6_ENST00000536871.2_Silent_p.L19L|SMG6_ENST00000544865.1_Silent_p.L896L|SMG6_ENST00000354901.4_Silent_p.L19L	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	NA					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTGTGCTGCAGTAACACCTGG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(59;28 1088 11621 25887 46638 50814)							NA				0													157	128	138			NA	NA	17		NA											NA				2139876		2203	4300	6503	SO:0001819	synonymous_variant			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366	23293	23293			17809	protein-coding gene	gene with protein product	EST1 telomerase component homolog A (S. cerevisiae)	610963	chromosome 17 open reading frame 31, smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)	C17orf31	NA	12676087, 12699629	Standard		NM_017575	NA	Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.2779C>T	17.37:g.2139876G>A		NA	O94837|Q86VH6|Q9UF60	37	CCDS11016.1																																																																																			SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437826.3		-	ENST00000263073.6	Silent	SNP	17 : 2139876 - 2139876 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	437	79
DCHS2	54798	broad.mit.edu	37	4	155155914	155155914	+	Missense_Mutation	SNP	G	G	A	rs61746111	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155155914G>A	ENST00000357232.4	-	25	8524	c.8525C>T	c.(8524-8526)cCg>cTg	p.P2842L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	NA					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTTTACTGCCGGCATTCTTGG	0.512		NA											G	20	0.01	0.03	0.01	2184	NA	0.9998	,	,	NA	3e-04	NA	NA	NA	0.0092	0.9888	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0								G	LEU/PRO	179,4227	115.9+/-153.8	6,167,2030	114	117	116		8525	5.9	1	4	dbSNP_129	116	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DCHS2	NM_017639.3	98	6,168,6329	AA,AG,GG	NA	0.0116,4.0626,1.384	probably-damaging	2842/2917	155155914	180,12826	2203	4300	6503	SO:0001583	missense			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410	54798	54798		Cadherins / Cadherin-related	23111	protein-coding gene	gene with protein product	cadherin-related family member 7	612486	cadherin-like 27, dachsous 2 (Drosophila)	CDH27, PCDH23	NA	15003449	Standard	NM_001142552	NM_017639	NA	Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.8525C>T	4.37:g.155155914G>A	ENSP00000349768:p.Pro2842Leu	NA	Q4W5P9|Q6ZS61|Q9NXU8	37	CCDS3785.1	20	0.009157509157509158	17	0.034552845528455285	3	0.008287292817679558	0	0.0	0	0.0	G	19.47	3.833634	0.71258	0.040626	1.16E-4	ENSG00000197410	ENST00000357232	T	0.57107	0.42	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000001	T	0.45236	0.1332	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66221	-0.5978	10	0.72032	D	0.01	.	20.3465	0.98790	0.0:0.0:1.0:0.0	.	2842	Q6V1P9	PCD23_HUMAN	L	2842	ENSP00000349768:P2842L	ENSP00000349768:P2842L	P	-	2	0	DCHS2	155375364	1.000000	0.71417	0.985000	0.45067	0.066000	0.16364	6.741000	0.74837	2.798000	0.96311	0.655000	0.94253	CCG	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365281.2		-	ENST00000357232.4	Missense_Mutation	SNP	4 : 155155914 - 155155914 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	684	170
ZNF546	339327	broad.mit.edu	37	19	40513257	40513257	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40513257A>G	ENST00000347077.4	+	5	464	c.248A>G	c.(247-249)gAc>gGc	p.D83G	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.D57G	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	83	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTGCAGAGGGACTTGTACAAG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	128	135			NA	NA	19		NA											NA				40513257		2203	4300	6503	SO:0001583	missense			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187	339327	339327		Zinc fingers, C2H2-type, -	28671	protein-coding gene	gene with protein product				ZNF49	NA	12477932	Standard	NM_178544	XM_005258853	NA	Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.248A>G	19.37:g.40513257A>G	ENSP00000339823:p.Asp83Gly	NA	A8K913	37	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	a	8.936	0.964725	0.18583	.	.	ENSG00000187187	ENST00000347077	T	0.01838	4.61	2.83	0.492	0.16872	Krueppel-associated box (4);	.	.	.	.	T	0.02727	0.0082	L	0.61036	1.89	0.23962	N	0.996332	B;B	0.06786	0.001;0.001	B;B	0.11329	0.003;0.006	T	0.46062	-0.9218	9	0.23302	T	0.38	.	4.3135	0.10982	0.3651:0.4817:0.1532:0.0	.	57;83	B3KVL3;Q86UE3	.;ZN546_HUMAN	G	83	ENSP00000339823:D83G	ENSP00000339823:D83G	D	+	2	0	ZNF546	45205097	0.000000	0.05858	0.682000	0.30024	0.667000	0.39255	-1.491000	0.02302	-0.053000	0.13289	0.450000	0.29827	GAC	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462495.2		+	ENST00000347077.4	Missense_Mutation	SNP	19 : 40513257 - 40513257 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	474	88
BBS5	129880	broad.mit.edu	37	2	170359670	170359670	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170359670T>G	ENST00000295240.3	+	10	1258	c.882T>G	c.(880-882)ggT>ggG	p.G294G	BBS5_ENST00000392663.2_Silent_p.G273G|RP11-724O16.1_ENST00000513963.1_Silent_p.G294G|BBS5_ENST00000554017.1_Silent_p.G294G	NM_152384.2	NP_689597.1			Bardet-Biedl syndrome 5	NA										endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ACTCTGATGGTCACACGGATG	0.393		NA							Bardet-Biedl syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	85	87			NA	NA	2		NA											NA				170359670		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AY604003	CCDS2233.1	2q31	2011-08-02			ENSG00000163093	ENSG00000163093	129880	129880			970	protein-coding gene	gene with protein product		603650			NA	9888993, 10053027	Standard	NM_152384	NM_152384	NA	Approved	DKFZp762I194		Q8N3I7	OTTHUMG00000132207	ENST00000295240.3:c.882T>G	2.37:g.170359670T>G		NA		37	CCDS2233.1																																																																																			BBS5-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255265.2		+	ENST00000295240.3	Silent	SNP	2 : 170359670 - 170359670 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	179	19
IRF9	10379	broad.mit.edu	37	14	24635385	24635385	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24635385G>A	ENST00000557894.1	+	9	1175	c.983G>A	c.(982-984)aGc>aAc	p.S328N	IRF9_ENST00000396864.3_Missense_Mutation_p.A388T|RP11-468E2.4_ENST00000558468.1_3'UTR			Q00978	IRF9_HUMAN	interferon regulatory factor 9	0					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	p.A388T(1)		NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		GCAGCAGGCAGCCATTCTGTC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											64	64	64			NA	NA	14		NA											NA				24635385		2203	4300	6503	SO:0001583	missense			M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928	10379	10379			6131	protein-coding gene	gene with protein product		147574	interferon-stimulated transcription factor 3, gamma (48kD), interferon-stimulated transcription factor 3, gamma 48kDa	ISGF3G	NA	1630447, 10199920	Standard		NM_006084	NA	Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000557894.1:c.983G>A	14.37:g.24635385G>A	ENSP00000453534:p.Ser328Asn	NA	D3DS61	37		.	.	.	.	.	.	.	.	.	.	G	19.80	3.894696	0.72639	.	.	ENSG00000213928	ENST00000396864;ENST00000324076	D;D	0.94793	-3.52;-3.52	4.8	3.91	0.45181	SMAD domain-like (1);SMAD/FHA domain (1);	0.181219	0.22981	U	0.053301	D	0.94823	0.8328	M	0.61703	1.905	0.09310	N	1	D	0.67145	0.996	P	0.60012	0.867	D	0.88158	0.2855	10	0.87932	D	0	-14.722	6.2456	0.20815	0.0979:0.1898:0.7124:0.0	.	388	Q00978	IRF9_HUMAN	T	388;204	ENSP00000380073:A388T;ENSP00000313529:A204T	ENSP00000313529:A204T	A	+	1	0	IRF9	23705225	0.335000	0.24748	0.713000	0.30519	0.060000	0.15804	2.962000	0.49176	2.665000	0.90641	0.561000	0.74099	GCC	IRF9-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000416079.1		+	ENST00000557894.1	Missense_Mutation	SNP	14 : 24635385 - 24635385 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	166	34
CACNA1A	773	broad.mit.edu	37	19	13428040	13428040	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13428040G>A	ENST00000360228.5	-	11	1440	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R482C	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	482					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.R482C(3)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TTGACCATGCGGCGGATGTAG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				3	Substitution - Missense(3)	endometrium(3)						G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,3990		0,0,1995	73	76	75		1444,1444,1441,1444,1444	4.7	1	19		75	1,8317		0,1,4158	no	missense,missense,missense,missense,missense	CACNA1A	NM_000068.3,NM_001127221.1,NM_001127222.1,NM_001174080.1,NM_023035.2	180,180,180,180,180	0,1,6153	AA,AG,GG	NA	0.012,0.0,0.0081	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	482/2267,482/2262,481/2507,482/2264,482/2513	13428040	1,12307	1995	4159	6154	SO:0001583	missense			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837	773	773		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP	NA	8825650, 16382099, 23827678	Standard	NM_000068	NM_000068	NA	Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.1441C>T	19.37:g.13428040G>A	ENSP00000353362:p.Arg481Cys	NA	P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9UDC4	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347420	0.41599	0.0	1.2E-4	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.96365	-3.99	5.76	4.73	0.59995	.	0.218239	0.39274	N	0.001415	D	0.98277	0.9429	M	0.89785	3.06	0.47949	D	0.999551	B;D;B	0.89917	0.246;1.0;0.246	B;D;B	0.85130	0.008;0.997;0.008	D	0.99066	1.0832	10	0.72032	D	0.01	.	13.7078	0.62651	0.0752:0.0:0.9248:0.0	.	482;482;481	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	C	481;482;482;482	ENSP00000353362:R481C	ENSP00000317661:R482C	R	-	1	0	CACNA1A	13289040	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	5.782000	0.68973	1.437000	0.47472	-0.136000	0.14681	CGC	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000104062.2		-	ENST00000360228.5	Missense_Mutation	SNP	19 : 13428040 - 13428040 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	125	23
CHTF18	63922	broad.mit.edu	37	16	841944	841944	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:841944G>A	ENST00000455171.2	+	8	1343	c.1282G>A	c.(1282-1284)Gcc>Acc	p.A428T	CHTF18_ENST00000317063.6_Missense_Mutation_p.A595T|CHTF18_ENST00000262315.9_Missense_Mutation_p.A400T			Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	400					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				GGAGATGAACGCCAGGTGAGT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA	0,4338		0,0,2169	51	53	52		1198	5	0.8	16		52	2,8538		0,2,4268	no	missense	CHTF18	NM_022092.2	58	0,2,6437	AA,AG,GG	NA	0.0234,0.0,0.0155	probably-damaging	400/976	841944	2,12876	2169	4270	6439	SO:0001583	missense			BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586	63922	63922		ATPases / AAA-type	18435	protein-coding gene	gene with protein product		613201	chromosome 16 open reading frame 41	C16orf41	NA	12171929	Standard	NM_022092	NM_022092	NA	Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000455171.2:c.1282G>A	16.37:g.841944G>A	ENSP00000406252:p.Ala428Thr	NA	B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	37		.	.	.	.	.	.	.	.	.	.	G	26.6	4.750830	0.89753	0.0	2.34E-4	ENSG00000127586	ENST00000317063;ENST00000455171;ENST00000262315	T;T;T	0.19669	2.13;2.13;2.13	5.04	5.04	0.67666	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.49660	0.1570	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.55547	-0.8124	10	0.87932	D	0	-14.4997	15.8801	0.79197	0.0:0.0:1.0:0.0	.	428;400	Q8WVB6-2;Q8WVB6	.;CTF18_HUMAN	T	595;428;400	ENSP00000313029:A595T;ENSP00000406252:A428T;ENSP00000262315:A400T	ENSP00000262315:A400T	A	+	1	0	CHTF18	781945	1.000000	0.71417	0.806000	0.32338	0.365000	0.29674	9.587000	0.98229	2.344000	0.79699	0.591000	0.81541	GCC	CHTF18-006	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000341047.2		+	ENST00000455171.2	Missense_Mutation	SNP	16 : 841944 - 841944 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	96	11
PDE2A	5138	broad.mit.edu	37	11	72299898	72299898	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72299898G>A	ENST00000334456.5	-	13	1245	c.1000C>T	c.(1000-1002)Cct>Tct	p.P334S	PDE2A_ENST00000544570.1_Missense_Mutation_p.P327S|PDE2A_ENST00000444035.2_Missense_Mutation_p.P325S|PDE2A_ENST00000418754.2_Missense_Mutation_p.P219S|PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000540345.1_Missense_Mutation_p.P325S	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	334	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CTGATGACAGGGACACAGAGC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	63	66			NA	NA	11		NA											NA				72299898		2200	4293	6493	SO:0001583	missense			U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	5138	5138	3.1.4.17	Phosphodiesterases	8777	protein-coding gene	gene with protein product		602658			NA	9210593	Standard	NM_002599	NM_002599	NA	Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.1000C>T	11.37:g.72299898G>A	ENSP00000334910:p.Pro334Ser	NA		37	CCDS8216.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.9|28.9	4.959321|4.959321	0.92726|0.92726	.|.	.|.	ENSG00000186642|ENSG00000186642	ENST00000538299|ENST00000334456;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345;ENST00000475807	.|D;D;D;D;D;D	.|0.95447	.|-3.71;-3.71;-3.71;-3.71;-3.71;-3.71	5.25|5.25	5.25|5.25	0.73442|0.73442	.|GAF (2);	0.692859|0.692859	0.13673|0.13673	N|N	0.370724|0.370724	D|D	0.97247|0.97247	0.9100|0.9100	L|L	0.60455|0.60455	1.87|1.87	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D;D;D	.|0.89917	.|0.998;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|0.989;0.998;0.999;1.0;0.999	D|D	0.97102|0.97102	0.9798|0.9798	6|10	.|0.87932	.|D	.|0	.|.	17.4063|17.4063	0.87474|0.87474	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|219;334;325;327;334	.|E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646	.|.;PDE2A_HUMAN;.;.;.	L|S	95|334;325;403;327;219;325;158	.|ENSP00000334910:P334S;ENSP00000411657:P325S;ENSP00000442256:P327S;ENSP00000410310:P219S;ENSP00000446399:P325S;ENSP00000439077:P158S	.|ENSP00000334910:P334S	P|P	-|-	2|1	0|0	PDE2A|PDE2A	71977546|71977546	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.496000|9.496000	0.97967|0.97967	2.461000|2.461000	0.83175|0.83175	0.491000|0.491000	0.48974|0.48974	CCC|CCT	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219839.2		-	ENST00000334456.5	Missense_Mutation	SNP	11 : 72299898 - 72299898 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	385	82
FAT2	2196	broad.mit.edu	37	5	150948345	150948345	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150948345T>C	ENST00000261800.5	-	1	160	c.148A>G	c.(148-150)Acc>Gcc	p.T50A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	50	Cadherin 1.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCACATAGGTCTTGGGAGAA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	120	119			NA	NA	5		NA											NA				150948345		2203	4300	6503	SO:0001583	missense			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570	2196	2196		Cadherins / Cadherin-related	3596	protein-coding gene	gene with protein product	cadherin-related family member 9	604269	FAT tumor suppressor (Drosophila) homolog 2, FAT tumor suppressor homolog 2 (Drosophila)		NA	9693030	Standard	NM_001447	NM_001447	NA	Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.148A>G	5.37:g.150948345T>C	ENSP00000261800:p.Thr50Ala	NA	O75091|Q9NSR7	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.547644	0.86022	.	.	ENSG00000086570	ENST00000261800	T	0.72051	-0.62	5.36	5.36	0.76844	Cadherin (2);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.82195	0.4984	M	0.81802	2.56	0.58432	D	0.999999	D	0.67145	0.996	P	0.58266	0.836	D	0.85066	0.0937	10	0.66056	D	0.02	.	15.3536	0.74409	0.0:0.0:0.0:1.0	.	50	Q9NYQ8	FAT2_HUMAN	A	50	ENSP00000261800:T50A	ENSP00000261800:T50A	T	-	1	0	FAT2	150928538	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.975000	0.88055	2.023000	0.59567	0.459000	0.35465	ACC	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252434.1		-	ENST00000261800.5	Missense_Mutation	SNP	5 : 150948345 - 150948345 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	823	162
RICTOR	253260	broad.mit.edu	37	5	38950004	38950004	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38950004C>T	ENST00000357387.3	-	31	3976	c.3946G>A	c.(3946-3948)Gat>Aat	p.D1316N	RICTOR_ENST00000296782.5_Missense_Mutation_p.D1316N	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1316					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AAGTTACAATCTGCTAGACTT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	115	116			NA	NA	5		NA											NA				38950004		2203	4300	6503	SO:0001583	missense				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327	253260	253260			28611	protein-coding gene	gene with protein product	rapamycin-insensitive companion of mTOR, pianissimo	609022			NA	12477932	Standard	NM_152756	XM_005248278	NA	Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.3946G>A	5.37:g.38950004C>T	ENSP00000349959:p.Asp1316Asn	NA	B2RNX0|B7ZMF7|Q68DT5|Q86UB7|Q8N3A0|Q8NCM6	37	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616596	0.87359	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.54866	0.65;0.55	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.71813	0.3384	L	0.56769	1.78	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.81914	0.995;0.995	T	0.71527	-0.4566	10	0.87932	D	0	-20.5176	20.5753	0.99366	0.0:1.0:0.0:0.0	.	1316;1316	Q6R327;Q6R327-3	RICTR_HUMAN;.	N	1316	ENSP00000349959:D1316N;ENSP00000296782:D1316N	ENSP00000296782:D1316N	D	-	1	0	RICTOR	38985761	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.868000	0.98415	0.557000	0.71058	GAT	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366985.1		-	ENST00000357387.3	Missense_Mutation	SNP	5 : 38950004 - 38950004 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	409	60
ACSM1	116285	broad.mit.edu	37	16	20681260	20681260	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20681260C>T	ENST00000307493.4	-	5	868	c.801G>A	c.(799-801)tcG>tcA	p.S267S	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Silent_p.S267S	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	267					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.S267S(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						ATCCTGAGTCCGACAGGCACC	0.502		NA												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)											141	120	127			NA	NA	16		NA											NA				20681260		2201	4300	6501	SO:0001819	synonymous_variant			AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	116285	116285	6.2.1.2	Acyl-CoA synthetase family	18049	protein-coding gene	gene with protein product		614357	butyryl Coenzyme A synthetase 1	BUCS1	NA	11470804, 12654705	Standard	NM_052956	NM_052956	NA	Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.801G>A	16.37:g.20681260C>T		NA	Q08AH2|Q96A20	37	CCDS10587.1																																																																																			ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254412.1		-	ENST00000307493.4	Silent	SNP	16 : 20681260 - 20681260 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	55
ZBTB45	84878	broad.mit.edu	37	19	59028774	59028774	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59028774G>A	ENST00000594051.1	-	2	747	c.267C>T	c.(265-267)agC>agT	p.S89S	ZBTB45_ENST00000354590.3_Silent_p.S89S|ZBTB45_ENST00000600990.1_Silent_p.S89S			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	89	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		CGAGCGAACCGCTGTACAGGA	0.602		NA									OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(164;1383 2017 5233 27540 46677)							NA				0													56	51	53			NA	NA	19		NA											NA				59028774		2202	4300	6502	SO:0001819	synonymous_variant			AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574	84878	84878		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	23715	protein-coding gene	gene with protein product			zinc finger protein 499	ZNF499	NA		Standard	NM_032792	NM_032792	NA	Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.267C>T	19.37:g.59028774G>A		1035		37	CCDS12984.1																																																																																			ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000467067.1		-	ENST00000594051.1	Silent	SNP	19 : 59028774 - 59028774 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	505	114
TRIM2	23321	broad.mit.edu	37	4	154216605	154216605	+	Silent	SNP	C	C	T	rs142242737		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154216605C>T	ENST00000338700.5	+	6	992	c.927C>T	c.(925-927)aaC>aaT	p.N309N	TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000437508.2_Silent_p.N282N	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	282						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		AGAAGCTGAACGAGCTGGCCG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	0,4406		0,0,2203	70	62	65		846,927	2.1	1	4	dbSNP_134	65	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	TRIM2	NM_001130067.1,NM_015271.3	,	0,2,6501	TT,TC,CC	NA	0.0233,0.0,0.0154	,	282/745,309/772	154216605	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654	23321	23321		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	15974	protein-coding gene	gene with protein product		614141	tripartite motif-containing 2		NA	9628581, 11331580	Standard		NM_015271	NA	Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000338700.5:c.927C>T	4.37:g.154216605C>T		NA	O60272|Q9BSI9|Q9UFZ1	37	CCDS3781.2																																																																																			TRIM2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342649.3		+	ENST00000338700.5	Silent	SNP	4 : 154216605 - 154216605 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	246	21
METAP1	23173	broad.mit.edu	37	4	99969935	99969935	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:99969935C>T	ENST00000296411.6	+	9	973	c.839C>T	c.(838-840)gCc>gTc	p.A280V	METAP1_ENST00000544031.1_Missense_Mutation_p.A230V	NM_015143.2	NP_055958.2	P53582	AMPM1_HUMAN	methionyl aminopeptidase 1	280					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		CAGAAGCATGCCCAAGCAAAT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													183	174	177			NA	NA	4		NA											NA				99969935		1877	4104	5981	SO:0001583	missense			D42084	CCDS47110.1	4q23	2010-08-20			ENSG00000164024	ENSG00000164024	23173	23173	3.4.11.18		15789	protein-coding gene	gene with protein product	Peptidase M	610151			NA	7788527, 12144506	Standard	NM_015143	NM_015143	NA	Approved	KIAA0094, MetAP1A, MAP1A	uc003huf.4	P53582	OTTHUMG00000161231	ENST00000296411.6:c.839C>T	4.37:g.99969935C>T	ENSP00000296411:p.Ala280Val	NA	B4E2E6	37	CCDS47110.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676809	0.67928	.	.	ENSG00000164024	ENST00000296411;ENST00000544031;ENST00000510133	T;T;T	0.77750	-1.12;-1.12;-1.12	4.4	4.4	0.53042	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	T	0.81356	0.4805	L	0.46567	1.45	0.80722	D	1	P	0.51653	0.947	P	0.55824	0.785	T	0.80301	-0.1440	9	.	.	.	-12.0974	17.5417	0.87850	0.0:1.0:0.0:0.0	.	280	P53582	AMPM1_HUMAN	V	280;230;64	ENSP00000296411:A280V;ENSP00000440993:A230V;ENSP00000423071:A64V	.	A	+	2	0	METAP1	100188958	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.464000	0.80887	2.440000	0.82611	0.585000	0.79938	GCC	METAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364237.1		+	ENST00000296411.6	Missense_Mutation	SNP	4 : 99969935 - 99969935 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	558	125
PRPF8	10594	broad.mit.edu	37	17	1563837	1563837	+	Silent	SNP	C	C	T	rs140446903	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1563837C>T	ENST00000572621.1	-	29	4939	c.4674G>A	c.(4672-4674)acG>acA	p.T1558T	PRPF8_ENST00000304992.6_Silent_p.T1558T			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1558						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGAAGATACCCGTCAGGTCTA	0.498		NA											c	2	9e-04	0.0041	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	9e-04	1	EXOME	NA	NA	7e-04	SNP								NA				0								C		6,4400	11.4+/-27.6	0,6,2197	141	138	139		4674	-8.8	0.9	17	dbSNP_134	139	0,8600		0,0,4300	no	coding-synonymous	PRPF8	NM_006445.3		0,6,6497	TT,TC,CC	NA	0.0,0.1362,0.0461		1558/2336	1563837	6,13000	2203	4300	6503	SO:0001819	synonymous_variant			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231	10594	10594			17340	protein-coding gene	gene with protein product		607300	PRP8 pre-mRNA processing factor 8 homolog (yeast), PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)	RP13	NA	11468273, 10411133	Standard		NM_006445	NA	Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.4674G>A	17.37:g.1563837C>T		NA	O14547|O75965	37	CCDS11010.1																																																																																			PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438412.2		-	ENST00000572621.1	Silent	SNP	17 : 1563837 - 1563837 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	859	25
KIF21A	55605	broad.mit.edu	37	12	39711958	39711958	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:39711958G>A	ENST00000361961.3	-	28	4205	c.3786C>T	c.(3784-3786)tcC>tcT	p.S1262S	KIF21A_ENST00000544797.2_Silent_p.S1255S|KIF21A_ENST00000395670.3_Silent_p.S1275S|KIF21A_ENST00000547745.1_Intron|KIF21A_ENST00000361418.5_Silent_p.S1275S|KIF21A_ENST00000541463.2_Silent_p.S1239S	NM_001173464.1|NM_017641.3	NP_001166935.1|NP_060111.2	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1275					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GGCTTGGTGGGGAAGAAGGAG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	81	79			NA	NA	12		NA											NA				39711958		2203	4300	6503	SO:0001819	synonymous_variant			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10					55605	55605		Kinesins, WD repeat domain containing	19349	protein-coding gene	gene with protein product		608283	fibrosis of the extraocular muscles, congenital, 1	FEOM1	NA	10225949	Standard	NM_017641	NM_017641	NA	Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361961.3:c.3786C>T	12.37:g.39711958G>A		NA	A8MX28|B0I1R9|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	37	CCDS31773.1																																																																																			KIF21A-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403577.1		-	ENST00000361961.3	Silent	SNP	12 : 39711958 - 39711958 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	43
RNF128	79589	broad.mit.edu	37	X	106016155	106016155	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:106016155T>G	ENST00000255499.2	+	2	747	c.497T>G	c.(496-498)aTt>aGt	p.I166S	RNF128_ENST00000324342.3_Missense_Mutation_p.I140S	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	166	PA.					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GCAGTAGACATTGTTGCAATC	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	93	99			NA	NA	X		NA											NA				106016155		2203	4300	6503	SO:0001583	missense			AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135	79589	79589		RING-type (C3HC4) zinc fingers	21153	protein-coding gene	gene with protein product		300439	ring finger protein 128		NA		Standard	NM_024539	NM_024539	NA	Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.497T>G	X.37:g.106016155T>G	ENSP00000255499:p.Ile166Ser	NA	Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	37	CCDS14521.1	.	.	.	.	.	.	.	.	.	.	T	17.51	3.407574	0.62399	.	.	ENSG00000133135	ENST00000418562;ENST00000324342;ENST00000255499	T;T;T	0.10960	2.82;2.82;2.82	5.65	5.65	0.86999	Protease-associated domain, PA (1);	0.284101	0.37219	N	0.002198	T	0.31857	0.0810	M	0.80422	2.495	0.54753	D	0.999989	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.977	T	0.08700	-1.0709	10	0.87932	D	0	.	8.3492	0.32292	0.0:0.0893:0.0:0.9107	.	166;140	Q8TEB7;Q8TEB7-2	RN128_HUMAN;.	S	113;140;166	ENSP00000412610:I113S;ENSP00000316127:I140S;ENSP00000255499:I166S	ENSP00000255499:I166S	I	+	2	0	RNF128	105902811	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	1.987000	0.40687	1.889000	0.54706	0.417000	0.27973	ATT	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057804.1		+	ENST00000255499.2	Missense_Mutation	SNP	X : 106016155 - 106016155 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	286	78
PUS1	80324	broad.mit.edu	37	12	132426155	132426155	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132426155G>A	ENST00000535067.1	+	3	519				PUS1_ENST00000542167.2_Missense_Mutation_p.S235N|PUS1_ENST00000376649.3_Missense_Mutation_p.S288N|PUS1_ENST00000440818.2_Missense_Mutation_p.S260N|PUS1_ENST00000443358.2_Missense_Mutation_p.S260N			Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	NA						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		AAGGGCCAGAGCTTCATGATG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(102;671 2009 17384 45666)							NA				0													148	142	144			NA	NA	12		NA											NA				132426155		2203	4300	6503	SO:0001627	intron_variant			AF116238	CCDS9275.2, CCDS31928.1	12q24	2004-05-17			ENSG00000177192	ENSG00000177192	80324	80324			15508	protein-coding gene	gene with protein product		608109			NA	10094309	Standard	NM_025215	NM_001002019	NA	Approved		uc001ujf.3	Q9Y606	OTTHUMG00000128507	ENST00000535067.1:c.358-1929G>A	12.37:g.132426155G>A		NA	A8K877|B3KQC1|Q8WYT2|Q9BU44	37		.	.	.	.	.	.	.	.	.	.	G	29.8	5.033607	0.93575	.	.	ENSG00000177192	ENST00000443358;ENST00000376649;ENST00000322060;ENST00000440818;ENST00000542167	T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3	5.17	5.17	0.71159	Pseudouridine synthase I, TruA, C-terminal (1);Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase I, TruA, alpha/beta domain (1);	0.000000	0.85682	D	0.000000	D	0.84288	0.5439	H	0.96430	3.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89639	0.3861	10	0.87932	D	0	-10.5566	18.6497	0.91427	0.0:0.0:1.0:0.0	.	235;288	F5H1S9;Q9Y606	.;TRUA_HUMAN	N	260;288;260;260;235	ENSP00000392451:S260N;ENSP00000365837:S288N;ENSP00000324726:S260N;ENSP00000400032:S260N;ENSP00000438948:S235N	ENSP00000324726:S260N	S	+	2	0	PUS1	130992108	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.864000	0.99589	2.405000	0.81733	0.491000	0.48974	AGC	PUS1-010	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000397786.1		+	ENST00000535067.1	Intron	SNP	12 : 132426155 - 132426155 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	634	140
MCTP2	55784	broad.mit.edu	37	15	94841508	94841508	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:94841508A>C	ENST00000357742.4	+	1	14	c.14A>C	c.(13-15)aAa>aCa	p.K5T	MCTP2_ENST00000543482.1_Missense_Mutation_p.K5T|MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Missense_Mutation_p.K5T	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	5					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GATCTGGATAAACCATCTGTT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	88	87			NA	NA	15		NA											NA				94841508		2197	4298	6495	SO:0001583	missense			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563	55784	55784			25636	protein-coding gene	gene with protein product					NA	15528213	Standard	NM_018349	NM_018349	NA	Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.14A>C	15.37:g.94841508A>C	ENSP00000350377:p.Lys5Thr	NA	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	37	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	A	14.43	2.534538	0.45073	.	.	ENSG00000140563	ENST00000543482;ENST00000556363;ENST00000451018;ENST00000357742	T;T;T	0.80033	-1.33;-0.94;-0.75	5.02	5.02	0.67125	.	0.000000	0.56097	D	0.000029	D	0.84374	0.5458	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.993;0.999	D;D;D;P;D	0.83275	0.973;0.996;0.915;0.866;0.973	D	0.86282	0.1668	10	0.72032	D	0.01	.	14.4272	0.67225	1.0:0.0:0.0:0.0	.	5;5;5;5;5	F5H415;Q6DN12-2;Q6DN12;B7Z6H2;G3V2J2	.;.;MCTP2_HUMAN;.;.	T	5	ENSP00000438521:K5T;ENSP00000395109:K5T;ENSP00000350377:K5T	ENSP00000350377:K5T	K	+	2	0	MCTP2	92642512	1.000000	0.71417	0.804000	0.32291	0.100000	0.18952	4.396000	0.59684	1.897000	0.54924	0.533000	0.62120	AAA	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415060.3		+	ENST00000357742.4	Missense_Mutation	SNP	15 : 94841508 - 94841508 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	590	107
CACNA1A	773	broad.mit.edu	37	19	13419063	13419063	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13419063T>C	ENST00000360228.5	-	14	1783	c.1784A>G	c.(1783-1785)tAc>tGc	p.Y595C	CACNA1A_ENST00000573710.2_Missense_Mutation_p.Y596C	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	596					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AGATGCCCAGTACCTGCCGAC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	59	58			NA	NA	19		NA											NA				13419063		2112	4244	6356	SO:0001583	missense			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837	773	773		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP	NA	8825650, 16382099, 23827678	Standard	NM_000068	NM_000068	NA	Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.1784A>G	19.37:g.13419063T>C	ENSP00000353362:p.Tyr595Cys	NA	P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9UDC4	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	T	16.79	3.221312	0.58560	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98531	-4.98	5.12	5.12	0.69794	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.99121	0.9697	M	0.92555	3.32	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.99402	1.0928	10	0.87932	D	0	.	13.9098	0.63860	0.0:0.0:0.0:1.0	.	596;596;595	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	C	595;596;596;596	ENSP00000353362:Y595C	ENSP00000317661:Y596C	Y	-	2	0	CACNA1A	13280063	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	8.040000	0.89188	1.923000	0.55706	0.533000	0.62120	TAC	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000104062.2		-	ENST00000360228.5	Missense_Mutation	SNP	19 : 13419063 - 13419063 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	151	25
CPNE9	151835	broad.mit.edu	37	3	9746668	9746668	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9746668C>T	ENST00000383832.3	+	4	440	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	CPNE9_ENST00000383831.3_Missense_Mutation_p.R84C	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	84	C2 1.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					GCAAAATCTGCGCTTCGATGT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	41	41			NA	NA	3		NA											NA				9746668		1932	4141	6073	SO:0001583	missense				CCDS2574.2	3p25.3	2008-10-30			ENSG00000144550	ENSG00000144550	151835	151835			24336	protein-coding gene	gene with protein product					NA	9430674	Standard	NM_001033755	XM_006712990	NA	Approved	KIAA4217	uc003bsd.3	Q8IYJ1	OTTHUMG00000128418	ENST00000383832.3:c.250C>T	3.37:g.9746668C>T	ENSP00000373343:p.Arg84Cys	NA	A1L430|A6NDX6|A8MSP8	37	CCDS2574.2	.	.	.	.	.	.	.	.	.	.	c	29.8	5.037375	0.93630	.	.	ENSG00000144550	ENST00000383832;ENST00000383831	T;T	0.70516	-0.49;-0.49	3.7	3.7	0.42460	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.216690	0.37530	N	0.002044	D	0.87958	0.6309	H	0.96080	3.765	0.80722	D	1	D	0.64830	0.994	D	0.64595	0.927	D	0.92327	0.5870	10	0.87932	D	0	.	15.7034	0.77558	0.0:1.0:0.0:0.0	.	84	Q8IYJ1	CPNE9_HUMAN	C	84	ENSP00000373343:R84C;ENSP00000373342:R84C	ENSP00000373342:R84C	R	+	1	0	CPNE9	9721668	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.548000	0.82154	2.082000	0.62665	0.444000	0.29173	CGC	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250205.4		+	ENST00000383832.3	Missense_Mutation	SNP	3 : 9746668 - 9746668 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	94	18
PTPRM	5797	broad.mit.edu	37	18	7888369	7888369	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7888369T>G	ENST00000332175.8	+	3	1499	c.462T>G	c.(460-462)ttT>ttG	p.F154L	PTPRM_ENST00000400053.4_Missense_Mutation_p.F92L|PTPRM_ENST00000580170.1_Missense_Mutation_p.F154L|PTPRM_ENST00000400060.4_Missense_Mutation_p.F154L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	154	MAM.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GGCCTAACTTTTATCAGGTAT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	67	66			NA	NA	18		NA											NA				7888369		2203	4300	6503	SO:0001583	missense			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482	5797	5797		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	9675	protein-coding gene	gene with protein product		176888		PTPRL1	NA	1655529, 8404049	Standard		NM_002845	NA	Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.462T>G	18.37:g.7888369T>G	ENSP00000331418:p.Phe154Leu	NA	D3DUH8	37	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.006859	0.74932	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053	T;T;T	0.02050	4.48;4.48;4.48	6.07	0.947	0.19555	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.108351	0.64402	D	0.000004	T	0.02494	0.0076	L	0.39633	1.23	0.80722	D	1	P;P	0.45011	0.848;0.848	B;B	0.41036	0.346;0.346	T	0.59742	-0.7397	10	0.46703	T	0.11	.	10.3573	0.43972	0.0:0.333:0.0:0.667	.	154;154	A7MBN1;P28827	.;PTPRM_HUMAN	L	154;154;92	ENSP00000331418:F154L;ENSP00000382933:F154L;ENSP00000382927:F92L	ENSP00000331418:F154L	F	+	3	2	PTPRM	7878369	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.280000	0.33202	0.178000	0.19917	0.533000	0.62120	TTT	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254456.1		+	ENST00000332175.8	Missense_Mutation	SNP	18 : 7888369 - 7888369 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	549	75
SH3PXD2A	9644	broad.mit.edu	37	10	105362640	105362640	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105362640G>A	ENST00000369774.4	-	15	2611	c.2335C>T	c.(2335-2337)Cgg>Tgg	p.R779W	SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R614W|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R646W|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R751W|SH3PXD2A_ENST00000427662.2_Intron			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	779					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		AGCTGGCGCCGTAAAGTGCTG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													261	251	254			NA	NA	10		NA											NA				105362640		2203	4300	6503	SO:0001583	missense			AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957	9644	9644			23664	protein-coding gene	gene with protein product	five SH3 domains		SH3 multiple domains 1	SH3MD1	NA	9687503	Standard	NM_014631	XM_005270297	NA	Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.2335C>T	10.37:g.105362640G>A	ENSP00000358789:p.Arg779Trp	NA	D3DR98|O43302|Q5TCZ2|Q5TDQ8	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.91|15.91	2.972366|2.972366	0.53614|0.53614	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130|ENST00000420222	T;T;T;T|.	0.65916|.	-0.17;-0.14;0.02;-0.18|.	5.11|5.11	4.18|4.18	0.49190|0.49190	.|.	0.054825|.	0.64402|.	D|.	0.000001|.	T|T	0.62780|0.62780	0.2456|0.2456	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.85130|.	0.993;0.993;0.995;0.997|.	T|T	0.60393|0.60393	-0.7272|-0.7272	10|5	0.54805|.	T|.	0.06|.	-25.6182|-25.6182	13.4768|13.4768	0.61314|0.61314	0.0:0.0:0.7006:0.2994|0.0:0.0:0.7006:0.2994	.|.	779;628;624;751|.	Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3|.	SPD2A_HUMAN;.;.;.|.	W|M	779;751;586;694;646;614|705	ENSP00000358789:R779W;ENSP00000348215:R751W;ENSP00000443663:R646W;ENSP00000441514:R614W|.	ENSP00000318135:R586W|.	R|T	-|-	1|2	2|0	SH3PXD2A|SH3PXD2A	105352630|105352630	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.736000|1.736000	0.38187|0.38187	1.107000|1.107000	0.41642|0.41642	0.561000|0.561000	0.74099|0.74099	CGG|ACG	SH3PXD2A-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000050178.1		-	ENST00000369774.4	Missense_Mutation	SNP	10 : 105362640 - 105362640 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1970	355
TNS1	7145	broad.mit.edu	37	2	218757686	218757686	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:218757686C>A	ENST00000419504.1	-	8	553	c.392G>T	c.(391-393)aGc>aTc	p.S131I	TNS1_ENST00000171887.4_Missense_Mutation_p.S131I|TNS1_ENST00000310858.6_Missense_Mutation_p.S162I|TNS1_ENST00000430930.1_Missense_Mutation_p.S131I			Q9HBL0	TENS1_HUMAN	tensin 1	131	Phosphatase tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AGAAATGTTGCTGTAGTGCAT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	95	99			NA	NA	2		NA											NA				218757686		2203	4300	6503	SO:0001583	missense			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308	7145	7145		Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs, SH2 domain containing	11973	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 155	600076	tensin, matrix-remodelling associated 6	TNS, MXRA6	NA		Standard	NM_022648	NM_022648	NA	Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000419504.1:c.392G>T	2.37:g.218757686C>A	ENSP00000408724:p.Ser131Ile	NA	Q4ZG71	37		.	.	.	.	.	.	.	.	.	.	C	21.6	4.179967	0.78564	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903;ENST00000413554;ENST00000310858	D;D;D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99;-4.99;-4.99	4.5	4.5	0.54988	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.98356	0.9454	L	0.48642	1.525	0.80722	D	1	D;D;P;D;D;D	0.89917	1.0;0.994;0.902;1.0;0.998;0.998	D;D;P;D;D;P	0.85130	0.963;0.92;0.696;0.997;0.991;0.878	D	0.99816	1.1044	10	0.87932	D	0	.	17.3447	0.87307	0.0:1.0:0.0:0.0	.	131;185;162;131;131;131	B2RU35;A1L0S7;Q6IPI5;Q9HBL0;E9PGF5;E9PF55	.;.;.;TENS1_HUMAN;.;.	I	131;131;131;256;199;162	ENSP00000171887:S131I;ENSP00000408724:S131I;ENSP00000406016:S131I;ENSP00000405460:S256I;ENSP00000400383:S199I;ENSP00000308321:S162I	ENSP00000171887:S131I	S	-	2	0	TNS1	218465931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.563000	0.60823	2.486000	0.83907	0.563000	0.77884	AGC	TNS1-004	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000339207.1		-	ENST00000419504.1	Missense_Mutation	SNP	2 : 218757686 - 218757686 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	61
HSD17B11	51170	broad.mit.edu	37	4	88261694	88261694	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88261694G>A	ENST00000358290.4	-	6	1075	c.760C>T	c.(760-762)Cag>Tag	p.Q254*	HSD17B11_ENST00000507518.1_5'UTR|HSD17B11_ENST00000507286.1_Nonsense_Mutation_p.Q210*|RP11-529H2.2_ENST00000508163.1_RNA	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	254					androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		ATCATCTTCTGCTCAGTCAGA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	94	93			NA	NA	4		NA											NA				88261694		2203	4300	6503	SO:0001587	stop_gained			AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	51170	51170	1.1.1.-	Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3	22960	protein-coding gene	gene with protein product	retinal short-chain dehydrogenase/reductase 2, short chain dehydrogenase/reductase family 16C, member 2	612831	dehydrogenase/reductase (SDR family) member 8	DHRS8	NA	11165019, 12697717, 19027726	Standard	NM_016245	XM_006714232	NA	Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.760C>T	4.37:g.88261694G>A	ENSP00000351035:p.Gln254*	NA	Q96HF6|Q9UKU4	37	CCDS3619.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483056	0.63962	.	.	ENSG00000198189	ENST00000358290;ENST00000507286	.	.	.	5.64	-0.742	0.11108	.	0.674135	0.14663	N	0.305856	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	10.9414	0.47275	0.0:0.1252:0.3101:0.5647	.	.	.	.	X	254;210	.	ENSP00000351035:Q254X	Q	-	1	0	HSD17B11	88480718	0.021000	0.18746	0.613000	0.29037	0.758000	0.43043	-0.102000	0.10956	-0.556000	0.06134	-0.169000	0.13324	CAG	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253041.1		-	ENST00000358290.4	Nonsense_Mutation	SNP	4 : 88261694 - 88261694 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	335	65
ARHGAP20	57569	broad.mit.edu	37	11	110501445	110501445	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110501445G>A	ENST00000260283.4	-	4	543	c.259C>T	c.(259-261)Ctg>Ttg	p.L87L	ARHGAP20_ENST00000533353.1_Silent_p.L61L|ARHGAP20_ENST00000357139.3_Silent_p.L61L|ARHGAP20_ENST00000527598.1_Silent_p.L51L|ARHGAP20_ENST00000524756.1_Silent_p.L64L|ARHGAP20_ENST00000528829.1_Silent_p.L51L	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	87	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CCATCAATCAGCAGAGTCCTA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	114	115			NA	NA	11		NA											NA				110501445		2201	4298	6499	SO:0001819	synonymous_variant			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727	57569	57569		Rho GTPase activating proteins	18357	protein-coding gene	gene with protein product		609568			NA	14532992	Standard	NM_020809	NM_020809	NA	Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.259C>T	11.37:g.110501445G>A		NA	A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	37	CCDS31673.1																																																																																			ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390628.1		-	ENST00000260283.4	Silent	SNP	11 : 110501445 - 110501445 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	531	90
KLF10	7071	broad.mit.edu	37	8	103663511	103663511	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103663511A>C	ENST00000395884.3	-	3	1918	c.1016T>G	c.(1015-1017)tTt>tGt	p.F339C	KLF10_ENST00000285407.6_Missense_Mutation_p.F350C	NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	350					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			TGAAGGGGAAAACCCAGGAGC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(16;495 519 2144 16528 44005)							NA				0													82	93	89			NA	NA	8		NA											NA				103663511		2203	4300	6503	SO:0001583	missense			U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090	7071	7071		Kruppel-like transcription factors, Zinc fingers, C2H2-type	11810	protein-coding gene	gene with protein product		601878	TGFB inducible early growth response	TIEG	NA	8584037, 9721211	Standard		NM_001032282	NA	Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000395884.3:c.1016T>G	8.37:g.103663511A>C	ENSP00000379222:p.Phe339Cys	NA	B2R794|Q503B2	37	CCDS47905.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.690749	0.48097	.	.	ENSG00000155090	ENST00000285407;ENST00000395884	T;T	0.14640	2.49;2.56	5.5	5.5	0.81552	.	0.151335	0.47852	D	0.000211	T	0.23370	0.0565	M	0.64997	1.995	0.09310	N	1	B;D	0.61080	0.066;0.989	B;P	0.49361	0.041;0.608	T	0.13124	-1.0521	10	0.30854	T	0.27	.	15.9091	0.79456	1.0:0.0:0.0:0.0	.	350;339	Q13118;O75411	KLF10_HUMAN;.	C	350;339	ENSP00000285407:F350C;ENSP00000379222:F339C	ENSP00000285407:F350C	F	-	2	0	KLF10	103732687	0.947000	0.32204	0.187000	0.23214	0.987000	0.75469	3.309000	0.51903	2.209000	0.71365	0.533000	0.62120	TTT	KLF10-002	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379968.1		-	ENST00000395884.3	Missense_Mutation	SNP	8 : 103663511 - 103663511 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	521	100
SPTBN2	6712	broad.mit.edu	37	11	66472170	66472170	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66472170G>A	ENST00000533211.1	-	15	2908	c.2577C>T	c.(2575-2577)agC>agT	p.S859S	SPTBN2_ENST00000529997.1_Silent_p.S859S|SPTBN2_ENST00000309996.2_Silent_p.S859S			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	859					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCCCGGCCTCGCTGAGCATGG	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	13	13			NA	NA	11		NA											NA				66472170		2195	4292	6487	SO:0001819	synonymous_variant			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898	6712	6712		Pleckstrin homology (PH) domain containing	11276	protein-coding gene	gene with protein product		604985	spinocerebellar ataxia 5	SCA5	NA	9826670, 16429157	Standard	NM_006946	NM_006946	NA	Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.2577C>T	11.37:g.66472170G>A		NA	O14872|O14873	37	CCDS8150.1																																																																																			SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393892.2		-	ENST00000533211.1	Silent	SNP	11 : 66472170 - 66472170 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	120	17
BMP15	9210	broad.mit.edu	37	X	50659581	50659581	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:50659581A>G	ENST00000252677.3	+	2	1153	c.1153A>G	c.(1153-1155)Att>Gtt	p.I385V		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	385					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					TGAGGGTATGATTGCTGAGTC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	99	102			NA	NA	X		NA											NA				50659581		2203	4299	6502	SO:0001583	missense			AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385	9210	9210		Bone morphogenetic proteins	1068	protein-coding gene	gene with protein product		300247			NA	9849956	Standard	NM_005448	NM_005448	NA	Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.1153A>G	X.37:g.50659581A>G	ENSP00000252677:p.Ile385Val	NA	Q17RM6|Q5JST1|Q9UMS1	37	CCDS14334.1	.	.	.	.	.	.	.	.	.	.	a	7.189	0.591080	0.13812	.	.	ENSG00000130385	ENST00000252677	D	0.83419	-1.72	5.58	4.43	0.53597	Transforming growth factor-beta, C-terminal (3);	0.231421	0.45361	D	0.000375	T	0.62696	0.2449	N	0.12663	0.25	0.47441	D	0.999426	B	0.31769	0.339	B	0.32624	0.149	T	0.61787	-0.6991	10	0.02654	T	1	.	8.0656	0.30659	0.9042:0.0:0.0958:0.0	.	385	O95972	BMP15_HUMAN	V	385	ENSP00000252677:I385V	ENSP00000252677:I385V	I	+	1	0	BMP15	50676321	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	1.689000	0.37700	1.876000	0.54355	0.481000	0.45027	ATT	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056572.1		+	ENST00000252677.3	Missense_Mutation	SNP	X : 50659581 - 50659581 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	545	18
PA2G4	5036	broad.mit.edu	37	12	56505030	56505030	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56505030C>A	ENST00000303305.6	+	11	1421	c.1002C>A	c.(1000-1002)acC>acA	p.T334T	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Intron	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	334	Necessary for nucleolar localization.				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			TGCGGATAACCAGTGGTCCCT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	88	90			NA	NA	12		NA											NA				56505030		2203	4300	6503	SO:0001819	synonymous_variant			U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515	5036	5036			8550	protein-coding gene	gene with protein product		602145	proliferation-associated 2G4, 38kD		NA	9345902	Standard	NM_006191	NM_006191	NA	Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.1002C>A	12.37:g.56505030C>A		NA	O43846|Q9UM59	37	CCDS8902.1																																																																																			PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407767.1		+	ENST00000303305.6	Silent	SNP	12 : 56505030 - 56505030 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	435	75
RNF212	285498	broad.mit.edu	37	4	1066789	1066789	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1066789T>C	ENST00000433731.2	-	10	828	c.767A>G	c.(766-768)tAt>tGt	p.Y256C	RNF212_ENST00000382968.5_3'UTR			Q495C1	RN212_HUMAN	ring finger protein 212	256							zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		TACCTCAGCATATATTGGAAG	0.527		NA									OREG0016028	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	110	110			NA	NA	4		NA											NA				1066789		2203	4300	6503	SO:0001583	missense			AK096160	CCDS3345.1, CCDS46996.1, CCDS54704.1	4p16.3	2013-02-27	2007-01-19	2007-01-19	ENSG00000178222	ENSG00000178222	285498	285498		RING-type (C3HC4) zinc fingers	27729	protein-coding gene	gene with protein product		612041	hypothetical protein LOC285498	LOC285498	NA	23396135	Standard	NM_194439	NM_001131034	NA	Approved	FLJ38841	uc003gcj.3	Q495C1	OTTHUMG00000118997	ENST00000433731.2:c.767A>G	4.37:g.1066789T>C	ENSP00000389709:p.Tyr256Cys	593	Q495C0|Q86W82|Q8IY99|Q8N8U7	37	CCDS46996.1	.	.	.	.	.	.	.	.	.	.	T	1.736	-0.492944	0.04322	.	.	ENSG00000178222	ENST00000433731	T	0.55234	0.53	1.49	-2.98	0.05513	.	.	.	.	.	T	0.28134	0.0694	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.12734	-1.0536	9	0.87932	D	0	.	6.8661	0.24094	0.0:0.3195:0.0:0.6805	.	256	Q495C1	RN212_HUMAN	C	256	ENSP00000389709:Y256C	ENSP00000389709:Y256C	Y	-	2	0	RNF212	1056789	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.213000	0.02991	-1.391000	0.02085	-1.122000	0.02009	TAT	RNF212-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359124.2		-	ENST00000433731.2	Missense_Mutation	SNP	4 : 1066789 - 1066789 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	312	51
EFEMP1	2202	broad.mit.edu	37	2	56144958	56144958	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56144958G>A	ENST00000394555.2	-	4	794	c.359C>T	c.(358-360)gCc>gTc	p.A120V	EFEMP1_ENST00000355426.3_Missense_Mutation_p.A120V|EFEMP1_ENST00000424836.2_Missense_Mutation_p.A62V|EFEMP1_ENST00000394554.1_Missense_Mutation_p.A120V	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	120					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGCAGCACTGGCCACAAAACC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(92;934 1319 7714 28760 40110)							NA				0													56	55	55			NA	NA	2		NA											NA				56144958		2203	4300	6503	SO:0001583	missense			U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380	2202	2202		Fibulins	3218	protein-coding gene	gene with protein product	fibulin 3	601548	fibrillin-like, EGF-containing fibulin-like extracellular matrix protein 1	DHRD, FBNL	NA	8812496, 7799918	Standard		NM_001039348	NA	Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.359C>T	2.37:g.56144958G>A	ENSP00000378058:p.Ala120Val	NA	A8K3I4|D6W5D2|Q541U7	37	CCDS1857.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306055	0.81247	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000424836;ENST00000355426;ENST00000438672	D;D;T;D;T	0.83755	-1.76;-1.76;-1.28;-1.76;-1.18	4.58	3.69	0.42338	.	0.000000	0.47852	D	0.000203	T	0.61085	0.2319	N	0.08118	0	0.24765	N	0.992903	B;B	0.18310	0.027;0.002	B;B	0.11329	0.006;0.003	T	0.44832	-0.9302	10	0.13470	T	0.59	.	6.5096	0.22214	0.0963:0.1837:0.72:0.0	.	62;120	B4DW75;Q12805	.;FBLN3_HUMAN	V	120;120;62;120;120	ENSP00000378058:A120V;ENSP00000378057:A120V;ENSP00000399145:A62V;ENSP00000347596:A120V;ENSP00000392055:A120V	ENSP00000347596:A120V	A	-	2	0	EFEMP1	55998462	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.089000	0.41672	1.522000	0.49001	0.650000	0.86243	GCC	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251491.2		-	ENST00000394555.2	Missense_Mutation	SNP	2 : 56144958 - 56144958 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	476	82
LAMA3	3909	broad.mit.edu	37	18	21529773	21529773	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21529773G>A	ENST00000313654.9	+	71	9637	c.9396G>A	c.(9394-9396)caG>caA	p.Q3132Q	LAMA3_ENST00000399516.3_Silent_p.Q3076Q|LAMA3_ENST00000269217.6_Silent_p.Q1523Q|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.Q1467Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3132	Laminin G-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGAACTTTCAGCTGGATTCAA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	82	81			NA	NA	18		NA											NA				21529773		2203	4300	6503	SO:0001819	synonymous_variant			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747	3909	3909		Laminins	6483	protein-coding gene	gene with protein product		600805	laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)	LAMNA	NA	8077230	Standard	NM_000227, NM_198129	NM_000227	NA	Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.9396G>A	18.37:g.21529773G>A		NA	Q13679|Q13680|Q6VU68|Q76E14|Q96TG0	37	CCDS42419.1																																																																																			LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254824.3		+	ENST00000313654.9	Silent	SNP	18 : 21529773 - 21529773 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	341	57
PLEKHB1	58473	broad.mit.edu	37	11	73372564	73372564	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73372564G>A	ENST00000354190.5	+	8	1080	c.649G>A	c.(649-651)Gcc>Acc	p.A217T	PLEKHB1_ENST00000398492.4_Missense_Mutation_p.A182T|PLEKHB1_ENST00000535129.1_Missense_Mutation_p.A163T|PLEKHB1_ENST00000398494.4_Missense_Mutation_p.A198T|PLEKHB1_ENST00000543085.1_Missense_Mutation_p.A112T|PLEKHB1_ENST00000227214.6_Missense_Mutation_p.A163T	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B (evectins) member 1	217					multicellular organismal development|phototransduction	cytoplasm|integral to membrane	signal transducer activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						CAGCGCCGGCGCCCCTCTGGC	0.682		NA									OREG0021217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	39	38			NA	NA	11		NA											NA				73372564		1985	4143	6128	SO:0001583	missense			AF081583	CCDS44672.1, CCDS44673.1, CCDS44674.1, CCDS44675.1	11q13.5-q14.1	2013-01-10	2002-11-04	2002-11-08	ENSG00000021300	ENSG00000021300	58473	58473		Pleckstrin homology (PH) domain containing	19079	protein-coding gene	gene with protein product		607651	PH domain containing, retinal 1	PHRET1	NA	10585447	Standard		NM_021200	NA	Approved	PHR1, KPL1	uc001ouc.3	Q9UF11	OTTHUMG00000168030	ENST00000354190.5:c.649G>A	11.37:g.73372564G>A	ENSP00000346127:p.Ala217Thr	1144	A8K0Q5|B2RBP1|B7Z716|Q9UBF5|Q9UI37|Q9UI44	37	CCDS44672.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244204	0.59103	.	.	ENSG00000021300	ENST00000354190;ENST00000398492;ENST00000227214;ENST00000398494;ENST00000543085;ENST00000542185;ENST00000541597;ENST00000535129;ENST00000540431	.	.	.	4.82	4.82	0.62117	.	0.235619	0.43110	D	0.000609	T	0.36524	0.0970	N	0.08118	0	0.30350	N	0.784885	P;D;D	0.65815	0.724;0.976;0.995	B;B;P	0.54312	0.15;0.417;0.748	T	0.34204	-0.9838	9	0.48119	T	0.1	-5.9888	15.1153	0.72397	0.0:0.0:1.0:0.0	.	186;182;217	Q59EU5;Q9UF11-2;Q9UF11	.;.;PKHB1_HUMAN	T	217;182;163;198;112;133;163;163;170	.	ENSP00000227214:A163T	A	+	1	0	PLEKHB1	73050212	1.000000	0.71417	1.000000	0.80357	0.323000	0.28346	4.200000	0.58433	2.677000	0.91161	0.561000	0.74099	GCC	PLEKHB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397593.1		+	ENST00000354190.5	Missense_Mutation	SNP	11 : 73372564 - 73372564 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	463	84
SPTBN4	57731	broad.mit.edu	37	19	40978533	40978533	+	Missense_Mutation	SNP	C	C	T	rs139091351		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40978533C>T	ENST00000352632.3	+	2	91	c.5C>T	c.(4-6)gCg>gTg	p.A2V	SPTBN4_ENST00000338932.3_Missense_Mutation_p.A2V|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A2V|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A2V|SPTBN4_ENST00000344104.3_Missense_Mutation_p.A2V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2	Actin-binding.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCCCCGATGGCGCAGGTACCA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	48	35	40		5	5.9	1	19	dbSNP_134	40	0,8600		0,0,4300	no	missense	SPTBN4	NM_020971.2	64	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	benign	2/2565	40978533	1,13005	2203	4300	6503	SO:0001583	missense			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460	57731	57731		Pleckstrin homology (PH) domain containing	14896	protein-coding gene	gene with protein product		606214			NA	11086001	Standard		NM_020971	NA	Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5C>T	19.37:g.40978533C>T	ENSP00000263373:p.Ala2Val	NA	Q9H1K7|Q9H1K8|Q9H1K9|Q9H3G8|Q9HCD0	37	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.230017	0.39399	2.27E-4	0.0	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.80214	-1.35;-1.28;-1.32	5.91	5.91	0.95273	.	0.229203	0.25991	U	0.027010	D	0.82870	0.5131	N	0.22421	0.69	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68621	0.959;0.959	D	0.84093	0.0391	10	0.59425	D	0.04	.	15.7986	0.78433	0.0:1.0:0.0:0.0	.	2;2	Q9H254;Q71S06	SPTN4_HUMAN;.	V	2	ENSP00000263373:A2V;ENSP00000340345:A2V;ENSP00000340741:A2V	ENSP00000340345:A2V	A	+	2	0	SPTBN4	45670373	0.997000	0.39634	1.000000	0.80357	0.175000	0.22909	3.673000	0.54591	2.793000	0.96121	0.655000	0.94253	GCG	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462559.2		+	ENST00000352632.3	Missense_Mutation	SNP	19 : 40978533 - 40978533 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	148	22
TSPEAR	54084	broad.mit.edu	37	21	45977936	45977936	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45977936G>T	ENST00000397916.1	-	2	258				TSPEAR_ENST00000323084.4_Intron|KRTAP10-3_ENST00000391620.1_Nonsense_Mutation_p.C221*			Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	NA					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CTGCCCGTCAGCAGCTGGACT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	31	30			NA	NA	21		NA											NA				45977936		2156	4261	6417	SO:0001627	intron_variant			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894	54084	54084			1268	protein-coding gene	gene with protein product		612920	chromosome 21 open reading frame 29, deafness, autosomal recessive 98	C21orf29, DFNB98	NA	12095917, 22678063	Standard	NM_144991	NM_144991	NA	Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000397916.1:c.99+9732C>A	21.37:g.45977936G>T		NA		37		.	.	.	.	.	.	.	.	.	.	g	16.89	3.248000	0.59103	.	.	ENSG00000212935	ENST00000391620	.	.	.	3.61	2.69	0.31865	.	.	.	.	.	.	.	.	.	.	.	0.38741	D	0.953885	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4773	0.38880	0.1199:0.0:0.8801:0.0	.	.	.	.	X	221	.	ENSP00000375478:C221X	C	-	3	2	KRTAP10-3	44802364	0.998000	0.40836	0.982000	0.44146	0.388000	0.30384	1.564000	0.36375	1.714000	0.51371	0.462000	0.41574	TGC	TSPEAR-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000195865.1		-	ENST00000397916.1	Intron	SNP	21 : 45977936 - 45977936 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	239	29
VILL	50853	broad.mit.edu	37	3	38047333	38047333	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38047333C>T	ENST00000283713.6	+	17	2267	c.2001C>T	c.(1999-2001)gcC>gcT	p.A667A	VILL_ENST00000465644.1_Silent_p.A385A|VILL_ENST00000383759.2_Silent_p.A667A			O15195	VILL_HUMAN	villin-like	667					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGGCGGTGGCCTGGGGCCAGG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	80	78			NA	NA	3		NA											NA				38047333		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059	50853	50853			30906	protein-coding gene	gene with protein product					NA	9179494	Standard	NM_015873	XM_005265191	NA	Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.2001C>T	3.37:g.38047333C>T		NA	A8MZP1|Q9BT80|Q9BWH7	37	CCDS2670.2																																																																																			VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253360.3		+	ENST00000283713.6	Silent	SNP	3 : 38047333 - 38047333 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	645	17
ITGAE	3682	broad.mit.edu	37	17	3646868	3646868	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3646868C>T	ENST00000263087.4	-	19	2461	c.2363G>A	c.(2362-2364)aGc>aAc	p.S788N		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	788					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GAGCTGGTAGCTGACTTTGAC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(182;635 2928 8995 38788)							NA				0													204	174	184			NA	NA	17		NA											NA				3646868		2203	4300	6503	SO:0001583	missense			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457	3682	3682		CD molecules, Integrins	6147	protein-coding gene	gene with protein product		604682			NA	8119947	Standard	NM_002208	NM_002208	NA	Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.2363G>A	17.37:g.3646868C>T	ENSP00000263087:p.Ser788Asn	NA	Q17RS6|Q9NZU9	37	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	C	0.036	-1.307908	0.01342	.	.	ENSG00000083457	ENST00000263087	T	0.40225	1.04	4.9	0.389	0.16269	Integrin alpha-2 (1);	.	.	.	.	T	0.30572	0.0769	M	0.66939	2.045	0.24812	N	0.992634	B	0.28419	0.211	B	0.28465	0.09	T	0.36648	-0.9739	9	0.02654	T	1	.	3.6759	0.08291	0.1588:0.4428:0.3085:0.0899	.	788	P38570	ITAE_HUMAN	N	788	ENSP00000263087:S788N	ENSP00000263087:S788N	S	-	2	0	ITGAE	3593617	0.953000	0.32496	0.998000	0.56505	0.100000	0.18952	-0.208000	0.09371	-0.052000	0.13311	-0.178000	0.13098	AGC	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438169.1		-	ENST00000263087.4	Missense_Mutation	SNP	17 : 3646868 - 3646868 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1045	180
UBN2	254048	broad.mit.edu	37	7	138968549	138968549	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138968549T>C	ENST00000473989.3	+	15	2898	c.2898T>C	c.(2896-2898)tgT>tgC	p.C966C	UBN2_ENST00000288561.8_Silent_p.C883C	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	NA	Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AACTCTCCTGTTCCTCCTCAC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	100	101			NA	NA	7		NA											NA				138968549		1933	4126	6059	SO:0001819	synonymous_variant			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741	254048	254048			21931	protein-coding gene	gene with protein product		613841			NA	19029251	Standard	NM_173569	NM_173569	NA	Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.2898T>C	7.37:g.138968549T>C		NA	A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	37	CCDS43655.2																																																																																			UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349272.3		+	ENST00000473989.3	Silent	SNP	7 : 138968549 - 138968549 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	339	10
KCNH3	23416	broad.mit.edu	37	12	49943286	49943286	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49943286C>T	ENST00000257981.6	+	9	1791	c.1531C>T	c.(1531-1533)Cgc>Tgc	p.R511C		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	511					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GTACGCCCGCCGCTTTCTGTA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	70	73			NA	NA	12		NA											NA				49943286		2203	4300	6503	SO:0001583	missense			AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519	23416	23416		Potassium channels, Voltage-gated ion channels / Potassium channels	6252	protein-coding gene	gene with protein product		604527			NA	10455180, 16382104	Standard	NM_012284	NM_012284	NA	Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.1531C>T	12.37:g.49943286C>T	ENSP00000257981:p.Arg511Cys	NA	Q9UQ06	37	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897636	0.91962	.	.	ENSG00000135519	ENST00000257981	D	0.96913	-4.17	4.89	4.89	0.63831	Cyclic nucleotide-binding-like (1);	0.000000	0.49305	D	0.000155	D	0.98302	0.9437	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.98771	1.0728	10	0.66056	D	0.02	.	15.9387	0.79736	0.0:1.0:0.0:0.0	.	511	Q9ULD8	KCNH3_HUMAN	C	511	ENSP00000257981:R511C	ENSP00000257981:R511C	R	+	1	0	KCNH3	48229553	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.879000	0.56138	2.719000	0.93026	0.655000	0.94253	CGC	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404571.2		+	ENST00000257981.6	Missense_Mutation	SNP	12 : 49943286 - 49943286 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	682	137
ABL1	25	broad.mit.edu	37	9	133760702	133760702	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133760702C>T	ENST00000318560.5	+	11	3406	c.3025C>T	c.(3025-3027)Cga>Tga	p.R1009*		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	1009	F-actin-binding.|Pro-rich.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CATATCAACCCGAGTGTCTCT	0.662		NA	T, Mis	BCR, ETV6, NUP214	CML, ALL, T-ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	0													59	70	66			NA	NA	9		NA											NA				133760702		2203	4300	6503	SO:0001587	stop_gained			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007	25	25		SH2 domain containing	76	protein-coding gene	gene with protein product		189980	v-abl Abelson murine leukemia viral oncogene homolog 1, c-abl oncogene 1, receptor tyrosine kinase, c-abl oncogene 1, non-receptor tyrosine kinase	ABL	NA	1857987, 12626632	Standard	NM_007313	NM_007313	NA	Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.3025C>T	9.37:g.133760702C>T	ENSP00000323315:p.Arg1009*	NA	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	37	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	C	43	10.274030	0.99373	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4781	0.61320	0.1667:0.8333:0.0:0.0	.	.	.	.	X	824;1028;1009	.	ENSP00000323315:R1009X	R	+	1	2	ABL1	132750523	1.000000	0.71417	0.967000	0.41034	0.982000	0.71751	3.861000	0.56002	2.457000	0.83068	0.555000	0.69702	CGA	ABL1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054684.1		+	ENST00000318560.5	Nonsense_Mutation	SNP	9 : 133760702 - 133760702 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	742	125
RAPH1	65059	broad.mit.edu	37	2	204313471	204313471	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204313471C>T	ENST00000319170.5	-	11	1801	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H	RAPH1_ENST00000419464.1_Missense_Mutation_p.R501H|RAPH1_ENST00000423104.1_Missense_Mutation_p.R528H|RAPH1_ENST00000374493.3_Missense_Mutation_p.R553H|RAPH1_ENST00000308091.4_Missense_Mutation_p.R553H|RAPH1_ENST00000374488.2_Missense_Mutation_p.R526H|RAPH1_ENST00000374489.2_Missense_Mutation_p.R528H|RAPH1_ENST00000418114.1_Missense_Mutation_p.R501H|RAPH1_ENST00000453034.1_Missense_Mutation_p.R553H|RAPH1_ENST00000439222.1_Missense_Mutation_p.R526H|RAPH1_ENST00000457812.1_Missense_Mutation_p.R501H	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	501	PH.				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTTTGCAATGCGGATCCCATT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	145	151			NA	NA	2		NA											NA				204313471		2203	4300	6503	SO:0001583	missense			AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166	65059	65059		Pleckstrin homology (PH) domain containing	14436	protein-coding gene	gene with protein product	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18	609035	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9	ALS2CR9, ALS2CR18	NA		Standard	NM_025252	NM_203365	NA	Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.1502G>A	2.37:g.204313471C>T	ENSP00000316543:p.Arg501His	NA	Q96Q37|Q9C0I2	37	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029621	0.93518	.	.	ENSG00000173166	ENST00000457812;ENST00000319170;ENST00000374493;ENST00000374489;ENST00000374488;ENST00000308091;ENST00000439222;ENST00000419464;ENST00000423104;ENST00000453034;ENST00000432342;ENST00000418114;ENST00000413201	T;T;T;T;T;T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	5.2	5.2	0.72013	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.41194	D	0.000930	D	0.88819	0.6540	M	0.88450	2.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	D	0.90902	0.4769	10	0.87932	D	0	-13.2136	18.7336	0.91746	0.0:1.0:0.0:0.0	.	553;553;501	Q70E73-6;C9K0J5;Q70E73	.;.;RAPH1_HUMAN	H	501;501;553;528;526;553;526;501;528;553;526;501;528	ENSP00000392854:R501H;ENSP00000316543:R501H;ENSP00000363617:R553H;ENSP00000363613:R528H;ENSP00000363612:R526H;ENSP00000311293:R553H;ENSP00000411138:R526H;ENSP00000390578:R501H;ENSP00000397751:R528H;ENSP00000406662:R553H;ENSP00000396711:R501H	ENSP00000311293:R553H	R	-	2	0	RAPH1	204021716	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.770000	0.85390	2.427000	0.82271	0.467000	0.42956	CGC	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256363.2		-	ENST00000319170.5	Missense_Mutation	SNP	2 : 204313471 - 204313471 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	504	113
BMP2K	55589	broad.mit.edu	37	4	79832926	79832926	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79832926T>A	ENST00000335016.5	+	16	3391	c.3225T>A	c.(3223-3225)caT>caA	p.H1075Q	PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	1075						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						AGCCCTTCCATTCTCCAGACC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	85	85			NA	NA	4		NA											NA				79832926		1986	4175	6161	SO:0001583	missense			AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756	55589	55589			18041	protein-coding gene	gene with protein product					NA		Standard	NM_017593	NM_017593	NA	Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.3225T>A	4.37:g.79832926T>A	ENSP00000334836:p.His1075Gln	NA	O94791|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	37	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.759|8.759	0.923117|0.923117	0.18056|0.18056	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000502613|ENST00000335016	.|T	.|0.47869	.|0.83	5.41|5.41	1.7|1.7	0.24286|0.24286	.|.	.|0.202762	.|0.40469	.|N	.|0.001092	T|T	0.54078|0.54078	0.1836|0.1836	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	.|D	.|0.57899	.|0.981	.|P	.|0.55161	.|0.77	T|T	0.53655|0.53655	-0.8408|-0.8408	5|10	.|0.66056	.|D	.|0.02	-14.2633|-14.2633	7.5944|7.5944	0.28039|0.28039	0.0:0.3899:0.0:0.6101|0.0:0.3899:0.0:0.6101	.|.	.|1075	.|Q9NSY1	.|BMP2K_HUMAN	I|Q	768|1075	.|ENSP00000334836:H1075Q	.|ENSP00000334836:H1075Q	F|H	+|+	1|3	0|2	BMP2K|BMP2K	80051950|80051950	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.008000|0.008000	0.06430|0.06430	1.194000|1.194000	0.32174|0.32174	0.357000|0.357000	0.24183|0.24183	0.397000|0.397000	0.26171|0.26171	TTC|CAT	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding			+	ENST00000335016.5	Missense_Mutation	SNP	4 : 79832926 - 79832926 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	531	112
LRMP	4033	broad.mit.edu	37	12	25232657	25232657	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25232657G>T	ENST00000354454.3	+	8	1033	c.204G>T	c.(202-204)gaG>gaT	p.E68D	LRMP_ENST00000547044.1_Missense_Mutation_p.E68D|LRMP_ENST00000548766.1_Missense_Mutation_p.E68D	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	124					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					GTAAGAAAGAGGAGGATACAA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	105	106			NA	NA	12		NA											NA				25232657		2203	4300	6503	SO:0001583	missense				CCDS8701.1	12p12.1	2012-05-16			ENSG00000118308	ENSG00000118308	4033	4033			6690	protein-coding gene	gene with protein product		602003			NA	8021504	Standard	NM_006152	NM_006152	NA	Approved	JAW1	uc010sja.2	Q12912	OTTHUMG00000170192	ENST00000354454.3:c.204G>T	12.37:g.25232657G>T	ENSP00000346442:p.Glu68Asp	NA	A0AVM2|B4E077|Q8N301	37	CCDS8701.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625834	0.46840	.	.	ENSG00000118308	ENST00000550945;ENST00000557489;ENST00000354454;ENST00000536173;ENST00000548766;ENST00000554942;ENST00000547044	T;T;T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34;2.34;2.34	4.61	-0.682	0.11339	.	0.705422	0.12924	N	0.427953	T	0.14527	0.0351	M	0.63428	1.95	0.09310	N	1	P	0.38711	0.643	B	0.37833	0.259	T	0.15809	-1.0424	10	0.30078	T	0.28	-2.9977	4.2181	0.10544	0.3862:0.1666:0.4471:0.0	.	124	Q12912	LRMP_HUMAN	D	68;68;68;15;68;68;68	ENSP00000448534:E68D;ENSP00000452116:E68D;ENSP00000346442:E68D;ENSP00000444056:E15D;ENSP00000446496:E68D;ENSP00000450634:E68D;ENSP00000450246:E68D	ENSP00000346442:E68D	E	+	3	2	LRMP	25123924	0.069000	0.21087	0.030000	0.17652	0.010000	0.07245	0.231000	0.17872	0.035000	0.15519	-0.827000	0.03088	GAG	LRMP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407870.1		+	ENST00000354454.3	Missense_Mutation	SNP	12 : 25232657 - 25232657 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	53
TAX1BP1	8887	broad.mit.edu	37	7	27824902	27824902	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27824902G>T	ENST00000396319.2	+	6	821	c.733G>T	c.(733-735)Gca>Tca	p.A245S	TAX1BP1_ENST00000543117.1_Missense_Mutation_p.A245S|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.A245S|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.A245S|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.A88S	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	245					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			AACACATAAAGCAATTGAAAA	0.279		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	77	78			NA	NA	7		NA											NA				27824902		2203	4300	6503	SO:0001583	missense			U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052	8887	8887			11575	protein-coding gene	gene with protein product		605326			NA	10435631	Standard	NM_006024	NM_006024	NA	Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.733G>T	7.37:g.27824902G>T	ENSP00000379612:p.Ala245Ser	NA	O60398|O95770|Q13311|Q9BQG5|Q9UI88	37	CCDS5415.1	.	.	.	.	.	.	.	.	.	.	G	32	5.166803	0.94768	.	.	ENSG00000106052	ENST00000543117;ENST00000265393;ENST00000409980;ENST00000433216;ENST00000396319	T;T;T;T;T	0.09445	2.98;2.98;2.98;2.98;2.98	5.89	5.89	0.94794	.	0.000000	0.53938	D	0.000060	T	0.30823	0.0777	L	0.53249	1.67	0.58432	D	0.999994	D;P;D	0.89917	1.0;0.877;0.971	D;P;P	0.91635	0.999;0.74;0.888	T	0.00122	-1.2027	10	0.30854	T	0.27	-17.8587	20.2572	0.98426	0.0:0.0:1.0:0.0	.	88;245;245	E7ENV2;Q86VP1;Q86VP1-2	.;TAXB1_HUMAN;.	S	245;245;245;88;245	ENSP00000444811:A245S;ENSP00000265393:A245S;ENSP00000386515:A245S;ENSP00000391907:A88S;ENSP00000379612:A245S	ENSP00000265393:A245S	A	+	1	0	TAX1BP1	27791427	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.960000	0.70348	2.793000	0.96121	0.650000	0.86243	GCA	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214142.1		+	ENST00000396319.2	Missense_Mutation	SNP	7 : 27824902 - 27824902 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	295	51
FHOD3	80206	broad.mit.edu	37	18	34310720	34310720	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34310720G>A	ENST00000590592.1	+	20	3529	c.3529G>A	c.(3529-3531)Gcc>Acc	p.A1177T	FHOD3_ENST00000591635.1_Missense_Mutation_p.A198T|FHOD3_ENST00000445677.1_Missense_Mutation_p.A964T|FHOD3_ENST00000359247.4_Missense_Mutation_p.A985T|FHOD3_ENST00000592128.1_5'UTR|FHOD3_ENST00000257209.4_Missense_Mutation_p.A1002T	NM_001281740.1	NP_001268669.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	985	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GATTAAGATCGCCATTTTGAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	102	106			NA	NA	18		NA											NA				34310720		2203	4300	6503	SO:0001583	missense			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775	80206	80206			26178	protein-coding gene	gene with protein product		609691			NA	11214970	Standard	XM_371114	NM_025135	NA	Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000590592.1:c.3529G>A	18.37:g.34310720G>A	ENSP00000466937:p.Ala1177Thr	NA	A8MQT4|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	37	CCDS32816.1	.	.	.	.	.	.	.	.	.	.	G	36	5.607431	0.96626	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.23348	1.91;1.91;1.91	5.6	5.6	0.85130	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.61813	0.2377	M	0.90870	3.155	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.992	T	0.70461	-0.4865	10	0.87932	D	0	.	18.1936	0.89814	0.0:0.0:1.0:0.0	.	964;985;1002	Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;FHOD3_HUMAN;.	T	1002;985;964	ENSP00000257209:A1002T;ENSP00000352186:A985T;ENSP00000411430:A964T	ENSP00000257209:A1002T	A	+	1	0	FHOD3	32564718	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	9.756000	0.98918	2.629000	0.89072	0.557000	0.71058	GCC	FHOD3-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460883.1		+	ENST00000590592.1	Missense_Mutation	SNP	18 : 34310720 - 34310720 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	396	31
HINFP	25988	broad.mit.edu	37	11	119004915	119004915	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119004915G>A	ENST00000527410.1	+	0	1357				HINFP_ENST00000350777.2_Missense_Mutation_p.E421K			Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	NA					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GTCGCTGAACGAGAGCAGCCT	0.587		NA									OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	65	65			NA	NA	11		NA											NA				119004915		2200	4295	6495	SO:0001624	3_prime_UTR_variant			AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273	25988	25988		Zinc fingers, C2H2-type	17850	protein-coding gene	gene with protein product	histone nuclear factor P	607099	MBD2-interacting zinc finger 1, MBD2-interacting zinc finger	MIZF	NA	11553631	Standard	NM_015517	NM_015517	NA	Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000527410.1:c.*63G>A	11.37:g.119004915G>A		1492	B3KPH6|Q96E65|Q9Y4M7	37	CCDS58188.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.491058	0.64074	.	.	ENSG00000172273	ENST00000350777	T	0.08896	3.04	5.31	5.31	0.75309	.	0.085034	0.47455	D	0.000228	T	0.06142	0.0159	L	0.29908	0.895	0.80722	D	1	D	0.52996	0.957	B	0.38194	0.267	T	0.34675	-0.9819	10	0.06494	T	0.89	-27.8494	17.3417	0.87298	0.0:0.0:1.0:0.0	.	421	Q9BQA5	HINFP_HUMAN	K	421	ENSP00000318085:E421K	ENSP00000318085:E421K	E	+	1	0	HINFP	118510125	1.000000	0.71417	0.982000	0.44146	0.911000	0.54048	5.614000	0.67695	2.779000	0.95612	0.655000	0.94253	GAG	HINFP-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388205.1		+	ENST00000527410.1	3'UTR	SNP	11 : 119004915 - 119004915 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	227	59
LTBP2	4053	broad.mit.edu	37	14	74975656	74975656	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74975656C>T	ENST00000556690.1	-	23	3531		c.e23-1		LTBP2_ENST00000261978.4_Splice_Site			Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	NA					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TCATCCACATCTGCAGGGCCA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	61	60			NA	NA	14		NA											NA				74975656		2203	4300	6503	SO:0001630	splice_region_variant				CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681	4053	4053		Latent transforming growth factor, beta binding proteins	6715	protein-coding gene	gene with protein product		602091	chromosome 14 open reading frame 141	LTBP3, C14orf141	NA	7798248	Standard	NM_000428	NM_000428	NA	Approved		uc001xqa.3	Q14767		ENST00000556690.1:c.3404-1G>A	14.37:g.74975656C>T		NA	Q99907|Q9NS51	37		.	.	.	.	.	.	.	.	.	.	C	19.90	3.912648	0.72983	.	.	ENSG00000119681	ENST00000261978;ENST00000556690;ENST00000556206	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9123	0.92490	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LTBP2	74045409	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	7.276000	0.78559	2.771000	0.95319	0.561000	0.74099	.	LTBP2-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000413598.1	Intron	-	ENST00000556690.1	Splice_Site	SNP	14 : 74975656 - 74975656 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	505	117
SSFA2	6744	broad.mit.edu	37	2	182781142	182781142	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182781142G>T	ENST00000409136.1	+	3	1414	c.1302G>T	c.(1300-1302)caG>caT	p.Q434H	SSFA2_ENST00000320370.7_Missense_Mutation_p.Q925H|SSFA2_ENST00000431877.2_Missense_Mutation_p.Q925H|SSFA2_ENST00000409001.1_Missense_Mutation_p.Q925H|SSFA2_ENST00000428267.2_Missense_Mutation_p.Q772H			P28290	SSFA2_HUMAN	sperm specific antigen 2	925						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			ACTCACTGCAGAATCTTTCAC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	65	65			NA	NA	2		NA											NA				182781142		2203	4300	6503	SO:0001583	missense			M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434	6744	6744			11319	protein-coding gene	gene with protein product	cleavage signal-1 protein, KRAS-induced actin-interacting protein, sperm associated antigen 13	118990			NA	1555770	Standard	NM_006751	XM_005246812	NA	Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000409136.1:c.1302G>T	2.37:g.182781142G>T	ENSP00000386916:p.Gln434His	NA	A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	37		.	.	.	.	.	.	.	.	.	.	G	18.02	3.529694	0.64860	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136	T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09	5.95	5.95	0.96441	.	0.099627	0.64402	D	0.000001	T	0.64724	0.2624	M	0.74881	2.28	0.52099	D	0.99994	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999	D;D;D;D;D	0.87578	0.998;0.997;0.997;0.997;0.997	T	0.65796	-0.6081	10	0.62326	D	0.03	-7.6063	14.5295	0.67915	0.0694:0.0:0.9306:0.0	.	772;434;925;925;925	E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.;.;.;SSFA2_HUMAN;.	H	925;925;925;772;434	ENSP00000388731:Q925H;ENSP00000314669:Q925H;ENSP00000387319:Q925H;ENSP00000409867:Q772H;ENSP00000386916:Q434H	ENSP00000314669:Q925H	Q	+	3	2	SSFA2	182489387	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.660000	0.68018	2.824000	0.97209	0.655000	0.94253	CAG	SSFA2-009	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000334804.1		+	ENST00000409136.1	Missense_Mutation	SNP	2 : 182781142 - 182781142 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	58
CDCA3	83461	broad.mit.edu	37	12	6958344	6958344	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6958344G>A	ENST00000229265.6	-	6	682	c.595C>T	c.(595-597)Cta>Tta	p.L199L	CDCA3_ENST00000535406.1_Silent_p.L224L|CDCA3_ENST00000422785.3_Intron|CDCA3_ENST00000540683.1_3'UTR|CDCA3_ENST00000538862.2_Silent_p.L224L	NM_031299.4	NP_112589.1	Q99618	CDCA3_HUMAN	cell division cycle associated 3	224					cell division|mitosis	cytosol				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						TTTTCACTTAGGGGTGAAGGC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	72	76			NA	NA	12		NA											NA				6958344		2203	4300	6503	SO:0001819	synonymous_variant			BG354576	CCDS8565.1, CCDS73428.1	12p13.31	2010-07-20				ENSG00000111665	83461	83461			14624	protein-coding gene	gene with protein product	trigger of mitotic entry 1	607749			NA	9074930, 12188893	Standard	NM_031299	XR_242988	NA	Approved	TOME-1, GRCC8	uc001qrg.2	Q99618		ENST00000229265.6:c.595C>T	12.37:g.6958344G>A		NA	A8K5V6|D3DUS6	37																																																																																				CDCA3-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000401939.2		-	ENST00000229265.6	Silent	SNP	12 : 6958344 - 6958344 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	242	23
GRM2	2912	broad.mit.edu	37	3	51749343	51749343	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51749343C>T	ENST00000395052.3	+	4	1788	c.1554C>T	c.(1552-1554)tgC>tgT	p.C518C	GRM2_ENST00000442933.2_Intron|GRM2_ENST00000475478.1_3'UTR	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	518					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GCGAAGTCTGCTGCTGGCTCT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	31	32			NA	NA	3		NA											NA				51749343		2203	4300	6503	SO:0001819	synonymous_variant			L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082	2912	2912		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4594	protein-coding gene	gene with protein product		604099			NA	7620613	Standard		NM_000839	NA	Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.1554C>T	3.37:g.51749343C>T		NA	B0M0K7|Q14CU5|Q52MC6|Q9H3N6	37	CCDS2834.1																																																																																			GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346542.1		+	ENST00000395052.3	Silent	SNP	3 : 51749343 - 51749343 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	223	16
TRHR	7201	broad.mit.edu	37	8	110100072	110100072	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110100072G>T	ENST00000518632.1	+	2	682	c.331G>T	c.(331-333)Gca>Tca	p.A111S	TRHR_ENST00000311762.2_Missense_Mutation_p.A111S			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	111						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GGGAATTAATGCATCCTCTTG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	125	129			NA	NA	8		NA											NA				110100072		2203	4300	6503	SO:0001583	missense				CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417	7201	7201			12299	protein-coding gene	gene with protein product		188545			NA	8128317	Standard		NM_003301	NA	Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.331G>T	8.37:g.110100072G>T	ENSP00000430711:p.Ala111Ser	NA	Q2M339	37	CCDS6311.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576023	0.65878	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	T;T	0.75154	-0.91;-0.91	6.06	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.093441	0.64402	D	0.000001	T	0.80732	0.4679	M	0.74258	2.255	0.47476	D	0.999437	P	0.50443	0.935	P	0.57620	0.824	T	0.80489	-0.1360	10	0.87932	D	0	-15.3417	7.0669	0.25157	0.14:0.0:0.7194:0.1405	.	111	P34981	TRFR_HUMAN	S	111	ENSP00000430711:A111S;ENSP00000309818:A111S	ENSP00000309818:A111S	A	+	1	0	TRHR	110169248	1.000000	0.71417	0.802000	0.32245	0.998000	0.95712	9.860000	0.99555	0.883000	0.36040	0.655000	0.94253	GCA	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380892.1		+	ENST00000518632.1	Missense_Mutation	SNP	8 : 110100072 - 110100072 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	394	36
USH1C	10083	broad.mit.edu	37	11	17547982	17547982	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17547982G>A	ENST00000005226.7	-	8	585	c.586C>T	c.(586-588)Cga>Tga	p.R196*	USH1C_ENST00000527020.1_Nonsense_Mutation_p.R196*|USH1C_ENST00000318024.4_Nonsense_Mutation_p.R196*|USH1C_ENST00000527720.1_Nonsense_Mutation_p.R165*	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	196					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	p.R196*(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						AGGCTGCCTCGCACGCCCTGA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Nonsense(1)	central_nervous_system(1)											67	52	57			NA	NA	11		NA											NA				17547982		2200	4293	6493	SO:0001587	stop_gained			AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611	10083	10083			12597	protein-coding gene	gene with protein product	harmonin	605242	deafness, autosomal recessive 18	DFNB18	NA	10973247, 12107438	Standard	NM_005709	NM_005709	NA	Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000005226.7:c.586C>T	11.37:g.17547982G>A	ENSP00000005226:p.Arg196*	NA	A8K423|Q96B29|Q9UM04|Q9UM17|Q9UPC3	37	CCDS7825.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203918	0.79127	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226;ENST00000526181	.	.	.	5.79	4.81	0.61882	.	0.500026	0.19874	N	0.104140	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	10.6957	0.45896	0.0:0.0:0.6905:0.3095	.	.	.	.	X	196;165;196;196;207	.	ENSP00000005226:R196X	R	-	1	2	USH1C	17504558	0.118000	0.22208	0.028000	0.17463	0.012000	0.07955	2.164000	0.42387	2.731000	0.93534	0.650000	0.86243	CGA	USH1C-006	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389153.1		-	ENST00000005226.7	Nonsense_Mutation	SNP	11 : 17547982 - 17547982 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	149	27
PKD2L1	9033	broad.mit.edu	37	10	102055907	102055907	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102055907G>T	ENST00000318222.3	-	7	1710	c.1328C>A	c.(1327-1329)gCt>gAt	p.A443D	PKD2L1_ENST00000338519.3_Missense_Mutation_p.A368D|PKD2L1_ENST00000353274.3_Missense_Mutation_p.A443D	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	443					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GAGGTTGACAGCATTCATGTT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													180	133	149			NA	NA	10		NA											NA				102055907		2203	4300	6503	SO:0001583	missense			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593	9033	9033		Voltage-gated ion channels / Transient receptor potential cation channels	9011	protein-coding gene	gene with protein product	transient receptor potential cation channel, subfamily P, member 3	604532		PKD2L, PKDL	NA	9878261, 9748274	Standard	NM_016112	NM_016112	NA	Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1328C>A	10.37:g.102055907G>T	ENSP00000325296:p.Ala443Asp	NA	O75972|Q5W039|Q9UP35|Q9UPA2	37	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	G	33	5.271172	0.95429	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.80304	-1.36;-1.36;-1.36	5.8	5.8	0.92144	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	D	0.92241	0.7539	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93266	0.6647	10	0.87932	D	0	-8.7781	19.0419	0.93004	0.0:0.0:1.0:0.0	.	396;443	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	D	368;443;443;441	ENSP00000345068:A368D;ENSP00000266049:A443D;ENSP00000325296:A443D	ENSP00000325296:A443D	A	-	2	0	PKD2L1	102045897	1.000000	0.71417	0.997000	0.53966	0.925000	0.55904	9.799000	0.99117	2.758000	0.94735	0.561000	0.74099	GCT	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049863.2		-	ENST00000318222.3	Missense_Mutation	SNP	10 : 102055907 - 102055907 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	351	63
SLX4	84464	broad.mit.edu	37	16	3641221	3641221	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3641221C>A	ENST00000294008.3	-	12	3058	c.2418G>T	c.(2416-2418)gaG>gaT	p.E806D		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	806	Glu-rich.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TTTCGCAATTCTCTGCTTCCT	0.532		NA						Direct reversal of damage			OREG0032061	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	133	131			NA	NA	16		NA											NA				3641221		2197	4300	6497	SO:0001583	missense			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827	84464	84464		Fanconi anemia, complementation groups, BTB/POZ domain containing	23845	protein-coding gene	gene with protein product	Fanconi anemia, complementation group P	613278	BTB (POZ) domain containing 12, SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)	BTBD12	NA	11347906, 19595721	Standard	NM_032444	NM_032444	NA	Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.2418G>T	16.37:g.3641221C>A	ENSP00000294008:p.Glu806Asp	612	Q69YT8|Q8TF15|Q96JP1	37	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	16.39	3.108645	0.56291	.	.	ENSG00000188827	ENST00000294008	T	0.01295	5.04	5.57	-0.0272	0.13927	.	0.699397	0.14214	N	0.333876	T	0.01092	0.0036	L	0.27053	0.805	0.09310	N	1	B	0.15141	0.012	B	0.15052	0.012	T	0.47086	-0.9144	10	0.48119	T	0.1	.	2.4889	0.04605	0.1195:0.3225:0.351:0.2071	.	806	Q8IY92	SLX4_HUMAN	D	806	ENSP00000294008:E806D	ENSP00000294008:E806D	E	-	3	2	SLX4	3581222	0.000000	0.05858	0.000000	0.03702	0.222000	0.24845	-0.177000	0.09796	0.026000	0.15269	0.561000	0.74099	GAG	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157301.3		-	ENST00000294008.3	Missense_Mutation	SNP	16 : 3641221 - 3641221 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	815	150
TMEM8B	51754	broad.mit.edu	37	9	35842555	35842555	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35842555G>A	ENST00000377991.4	+	7	1135	c.120G>A	c.(118-120)ccG>ccA	p.P40P	TMEM8B_ENST00000473947.1_Intron|TMEM8B_ENST00000377996.1_Silent_p.P40P|TMEM8B_ENST00000377988.2_Silent_p.P40P|TMEM8B_ENST00000439587.2_Silent_p.P40P	NM_001042589.2	NP_001036054.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	40					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						CAGTGCGCCCGACTCTGCGCA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	67	73			NA	NA	9		NA											NA				35842555		2203	4300	6503	SO:0001819	synonymous_variant			BC043384	CCDS6595.1, CCDS43800.1	9p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000137103	ENSG00000137103	51754	51754			21427	protein-coding gene	gene with protein product	nasopharyngeal carcinoma expressed 6		chromosome 9 open reading frame 127	C9orf127	NA	12918109, 8619474	Standard	NM_016446	NM_016446	NA	Approved	NAG-5, NGX6	uc003zym.4	A6NDV4	OTTHUMG00000019885	ENST00000377991.4:c.120G>A	9.37:g.35842555G>A		NA	B3KQF3|O75539|Q49AB1|Q4KMX5|Q5TCW5|Q9HBY2|Q9P0U7	37	CCDS43800.1																																																																																			TMEM8B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052388.2		+	ENST00000377991.4	Silent	SNP	9 : 35842555 - 35842555 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	291	49
URI1	8725	broad.mit.edu	37	19	30503346	30503346	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30503346G>T	ENST00000360605.4	+	10	1327	c.1279G>T	c.(1279-1281)Gaa>Taa	p.E427*	URI1_ENST00000312051.6_Nonsense_Mutation_p.E405*|URI1_ENST00000392271.1_Nonsense_Mutation_p.E369*|URI1_ENST00000542441.2_Nonsense_Mutation_p.E445*	NM_001252641.1	NP_001239570.1	O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	445					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding				NA						CAGCTGCGAAGAAGCCACTTG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	94	95			NA	NA	19		NA											NA				30503346		2203	4300	6503	SO:0001587	stop_gained			AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176	8725	8725		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	13236	protein-coding gene	gene with protein product	unconventional prefoldin RPB5 interactor, RPB5-mediating protein, protein phosphatase 1, regulatory subunit 19	603494	chromosome 19 open reading frame 2	C19orf2	NA	9878255, 9819440	Standard	NM_134447	NM_003796	NA	Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000360605.4:c.1279G>T	19.37:g.30503346G>T	ENSP00000353817:p.Glu427*	NA	A8K805|Q9UNU3	37	CCDS58658.1	.	.	.	.	.	.	.	.	.	.	G	38	6.791179	0.97841	.	.	ENSG00000105176	ENST00000360605;ENST00000392271;ENST00000542441;ENST00000312051	.	.	.	5.64	5.64	0.86602	.	0.144174	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-15.4912	19.7088	0.96084	0.0:0.0:1.0:0.0	.	.	.	.	X	443;369;445;405	.	ENSP00000312530:E405X	E	+	1	0	C19orf2	35195186	1.000000	0.71417	0.998000	0.56505	0.407000	0.30961	9.158000	0.94723	2.663000	0.90544	0.585000	0.79938	GAA	URI1-003	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000439752.1		+	ENST00000360605.4	Nonsense_Mutation	SNP	19 : 30503346 - 30503346 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	434	79
ZNF239	8187	broad.mit.edu	37	10	44052679	44052679	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44052679G>A	ENST00000306006.6	-	2	1501	c.849C>T	c.(847-849)gcC>gcT	p.A283A	ZNF239_ENST00000535642.1_Silent_p.A283A|ZNF239_ENST00000374446.2_Silent_p.A283A|ZNF239_ENST00000426961.1_Silent_p.A283A	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTGTATGGACGGCATGATGGA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	148	147			NA	NA	10		NA											NA				44052679		2172	4287	6459	SO:0001819	synonymous_variant			X82125	CCDS41502.1	10q11.22-q11.23	2013-01-08			ENSG00000196793	ENSG00000196793	NA	8187		Zinc fingers, C2H2-type	13031	protein-coding gene	gene with protein product		601069			NA	8903737, 8587123	Standard		NM_005674	NA	Approved	MOK2, HOK-2	uc009xmk.3	Q16600	OTTHUMG00000018033	ENST00000306006.6:c.849C>T	10.37:g.44052679G>A		NA	Q5T1G9|Q8TAS5	37	CCDS41502.1																																																																																			ZNF239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047710.1		-	ENST00000306006.6	Silent	SNP	10 : 44052679 - 44052679 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	844	155
RHPN2	85415	broad.mit.edu	37	19	33486990	33486990	+	Silent	SNP	G	G	A	rs142685730		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33486990G>A	ENST00000254260.3	-	11	1397	c.1362C>T	c.(1360-1362)taC>taT	p.Y454Y	RHPN2_ENST00000400226.4_Silent_p.Y303Y	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	454	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GGTGCTGGGCGTACGTGAGCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4405	2.1+/-5.4	0,1,2202	83	66	72		1362	0.3	0.2	19	dbSNP_134	72	0,8600		0,0,4300	no	coding-synonymous	RHPN2	NM_033103.4		0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077		454/687	33486990	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941	85415	85415			19974	protein-coding gene	gene with protein product					NA	12221077	Standard	NM_033103	NM_033103	NA	Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1362C>T	19.37:g.33486990G>A		NA	Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	37	CCDS12427.1																																																																																			RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450828.2		-	ENST00000254260.3	Silent	SNP	19 : 33486990 - 33486990 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	484	78
AKAP7	9465	broad.mit.edu	37	6	131520710	131520710	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131520710G>A	ENST00000431975.2	+	6	797	c.699G>A	c.(697-699)aaG>aaA	p.K233K	AKAP7_ENST00000368123.4_Silent_p.K211K|AKAP7_ENST00000541650.1_Silent_p.K232K	NM_016377.3	NP_057461.2	O43687	AKA7A_HUMAN	A kinase (PRKA) anchor protein 7	0					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		GGCTCCGTAAGAATGTGAGTG	0.453		NA									OREG0017662	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	106	114			NA	NA	6		NA											NA				131520710		2203	4300	6503	SO:0001819	synonymous_variant			AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507	9465	9465		A-kinase anchor proteins	377	protein-coding gene	gene with protein product		604693			NA	9545239	Standard	NM_004842	NM_016377	NA	Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.699G>A	6.37:g.131520710G>A		1588	A8K2K6|Q5TBR9|Q5TBS0|Q9HCZ8|Q9P0G4	37	CCDS5142.2																																																																																			AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042209.2		+	ENST00000431975.2	Silent	SNP	6 : 131520710 - 131520710 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	298	29
USPL1	10208	broad.mit.edu	37	13	31232733	31232733	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:31232733C>T	ENST00000255304.4	+	9	2861	c.2519C>T	c.(2518-2520)gCc>gTc	p.A840V		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	840					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GGCACAGCTGCCCACCCACAT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(60;318 1180 1554 28110 31601)							NA				0													79	77	78			NA	NA	13		NA											NA				31232733		2203	4300	6503	SO:0001583	missense			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952	10208	10208			20294	protein-coding gene	gene with protein product			chromosome 13 open reading frame 22	C13orf22	NA	22878415	Standard	NM_005800	NM_005800	NA	Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.2519C>T	13.37:g.31232733C>T	ENSP00000255304:p.Ala840Val	NA	Q14109|Q6AI45|Q8IY30|Q8IYE8	37	CCDS9336.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.771724	0.31320	.	.	ENSG00000132952	ENST00000255304	T	0.15017	2.46	5.52	2.13	0.27403	.	1.346150	0.04664	N	0.409519	T	0.13114	0.0318	L	0.29908	0.895	0.09310	N	1	P	0.38078	0.617	B	0.37144	0.242	T	0.23726	-1.0180	10	0.40728	T	0.16	-1.4166	3.6569	0.08223	0.2388:0.4877:0.0:0.2735	.	840	Q5W0Q7	USPL1_HUMAN	V	840	ENSP00000255304:A840V	ENSP00000255304:A840V	A	+	2	0	USPL1	30130733	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.441000	0.06879	0.557000	0.29117	0.561000	0.74099	GCC	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044369.1		+	ENST00000255304.4	Missense_Mutation	SNP	13 : 31232733 - 31232733 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	505	79
OR5AK2	390181	broad.mit.edu	37	11	56756950	56756950	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56756950T>G	ENST00000326855.2	+	1	604	c.562T>G	c.(562-564)Tca>Gca	p.S188A		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TCTTGCTCTTTCATGCTCCAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													343	305	318			NA	NA	11		NA											NA				56756950		2201	4296	6497	SO:0001583	missense			AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273	390181	390181		GPCR / Class A : Olfactory receptors	15251	protein-coding gene	gene with protein product					NA		Standard	NM_001005323	NM_001005323	NA	Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.562T>G	11.37:g.56756950T>G	ENSP00000322784:p.Ser188Ala	NA	B2RNZ9	37	CCDS31538.1	.	.	.	.	.	.	.	.	.	.	T	4.418	0.077324	0.08485	.	.	ENSG00000181273	ENST00000326855	T	0.00235	8.48	3.85	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35262	N	0.003332	T	0.00178	0.0005	L	0.28344	0.845	0.18873	N	0.999986	B	0.27316	0.175	B	0.35727	0.209	T	0.39663	-0.9603	10	0.40728	T	0.16	-11.9562	11.9306	0.52845	0.0:0.0:0.0:1.0	.	188	Q8NH90	O5AK2_HUMAN	A	188	ENSP00000322784:S188A	ENSP00000322784:S188A	S	+	1	0	OR5AK2	56513526	0.007000	0.16637	0.415000	0.26534	0.039000	0.13416	0.623000	0.24447	1.739000	0.51704	0.163000	0.16589	TCA	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392446.1		+	ENST00000326855.2	Missense_Mutation	SNP	11 : 56756950 - 56756950 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1479	282
PGM1	5236	broad.mit.edu	37	1	64120045	64120045	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:64120045C>T	ENST00000371083.4	+	10	1929	c.1561C>T	c.(1561-1563)Cga>Tga	p.R521*	PGM1_ENST00000540265.1_Nonsense_Mutation_p.R306*|PGM1_ENST00000371084.3_Nonsense_Mutation_p.R503*|PGM1_ENST00000483707.1_3'UTR	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN	phosphoglucomutase 1	503					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AATCGTCTTCCGACTGAGCGG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	76	77			NA	NA	1		NA											NA				64120045		2203	4300	6503	SO:0001587	stop_gained			BC019920	CCDS625.1, CCDS53323.1, CCDS53324.1	1p22.1	2012-10-02			ENSG00000079739	ENSG00000079739	5236	5236	5.4.2.2		8905	protein-coding gene	gene with protein product		171900			NA	4517931, 1530890	Standard	NM_002633	NM_002633	NA	Approved		uc010ooz.2	P36871	OTTHUMG00000008968	ENST00000371083.4:c.1561C>T	1.37:g.64120045C>T	ENSP00000360124:p.Arg521*	NA	B2R5N9|Q16105|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4	37	CCDS53323.1	.	.	.	.	.	.	.	.	.	.	C	37	6.146605	0.97324	.	.	ENSG00000079739	ENST00000538673;ENST00000371084;ENST00000540265;ENST00000371083	.	.	.	5.45	4.51	0.55191	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.3083	13.3093	0.60370	0.2968:0.7032:0.0:0.0	.	.	.	.	X	479;503;306;521	.	ENSP00000360124:R521X	R	+	1	2	PGM1	63892633	1.000000	0.71417	1.000000	0.80357	0.315000	0.28087	1.134000	0.31442	1.379000	0.46325	0.563000	0.77884	CGA	PGM1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000024869.1		+	ENST00000371083.4	Nonsense_Mutation	SNP	1 : 64120045 - 64120045 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	69
ZNF488	118738	broad.mit.edu	37	10	48371057	48371057	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:48371057G>A	ENST00000395702.2	+	2	752	c.525G>A	c.(523-525)gaG>gaA	p.E175E	ZNF488_ENST00000494156.1_3'UTR|ZNF488_ENST00000586537.1_Silent_p.E68E			Q96MN9	ZN488_HUMAN	zinc finger protein 488	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						AGAGGCCTGAGCTAACCTCAG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	76	76			NA	NA	10		NA											NA				48371057		2203	4300	6503	SO:0001819	synonymous_variant			AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763	118738	118738		Zinc fingers, C2H2-type	23535	protein-coding gene	gene with protein product					NA		Standard	NM_153034	NM_153034	NA	Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.525G>A	10.37:g.48371057G>A		NA		37	CCDS7217.1																																																																																			ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000314632.1		+	ENST00000395702.2	Silent	SNP	10 : 48371057 - 48371057 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	438	88
KIF16B	55614	broad.mit.edu	37	20	16355009	16355009	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:16355009G>A	ENST00000354981.2	-	20	3400	c.3243C>T	c.(3241-3243)gtC>gtT	p.V1081V	KIF16B_ENST00000378003.2_Silent_p.V307V|KIF16B_ENST00000408042.1_Silent_p.V1081V|KIF16B_ENST00000355755.3_Silent_p.V1081V	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1081					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GAACACCATCGACCTCATAAA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	110	116			NA	NA	20		NA											NA				16355009		2203	4300	6503	SO:0001819	synonymous_variant			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177	55614	55614		Kinesins	15869	protein-coding gene	gene with protein product			chromosome 20 open reading frame 23	C20orf23	NA	16084724, 16782399	Standard	NM_017683	NM_024704	NA	Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3243C>T	20.37:g.16355009G>A		NA	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	37	CCDS13122.1																																																																																			KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078104.2		-	ENST00000354981.2	Silent	SNP	20 : 16355009 - 16355009 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	434	77
PPFIA2	8499	broad.mit.edu	37	12	81661781	81661781	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81661781G>A	ENST00000550584.2	-	28	3691	c.3396C>T	c.(3394-3396)agC>agT	p.S1132S	PPFIA2_ENST00000407050.4_Silent_p.S1031S|PPFIA2_ENST00000541017.1_Silent_p.S318S|PPFIA2_ENST00000549325.1_Silent_p.S1117S|PPFIA2_ENST00000548586.1_Silent_p.S1126S|PPFIA2_ENST00000549396.1_Silent_p.S1132S|PPFIA2_ENST00000550359.2_Silent_p.S979S|PPFIA2_ENST00000333447.7_Silent_p.S1120S|PPFIA2_ENST00000552948.1_Silent_p.S1111S|PPFIA2_ENST00000443686.3_Silent_p.S1027S|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541570.2_Silent_p.S668S	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1031										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CATGCACACCGCTCTCAAGTA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,,,,,,,,	0,3794		0,0,1897	93	88	89		3396,3351,3333,3378,3093,3081,2004,954,3396	-2.7	1	12		89	1,8303		0,1,4151	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PPFIA2	NM_001220473.1,NM_001220474.1,NM_001220475.1,NM_001220476.1,NM_001220477.1,NM_001220478.1,NM_001220479.1,NM_001220480.1,NM_003625.3	,,,,,,,,	0,1,6048	AA,AG,GG	NA	0.012,0.0,0.0083	,,,,,,,,	1132/1248,1117/1233,1111/1237,1126/1252,1031/1157,1027/1153,668/784,318/444,1132/1258	81661781	1,12097	1897	4152	6049	SO:0001819	synonymous_variant			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10					8499	8499		Sterile alpha motif (SAM) domain containing	9246	protein-coding gene	gene with protein product	Liprin-alpha2	603143			NA	9624153	Standard		NM_003625	NA	Approved		uc031qis.1	O75334		ENST00000550584.2:c.3396C>T	12.37:g.81661781G>A		NA	E7ERB8	37	CCDS59236.1																																																																																			PPFIA2-002	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408031.2		-	ENST00000550584.2	Silent	SNP	12 : 81661781 - 81661781 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	67	11
ANO2	57101	broad.mit.edu	37	12	6030260	6030260	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6030260C>A	ENST00000356134.5	-	3	539	c.468G>T	c.(466-468)gaG>gaT	p.E156D	ANO2_ENST00000546188.1_Missense_Mutation_p.E156D|ANO2_ENST00000327087.8_Missense_Mutation_p.E156D	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	160						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GCTCAAATTCCTCCCGCTGCT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	105	106			NA	NA	12		NA											NA				6030260		2096	4228	6324	SO:0001583	missense			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617	57101	57101		Ion channels / Chloride channels : Calcium activated : Anoctamins	1183	protein-coding gene	gene with protein product	transmembrane protein 16B (eight membrane-spanning domains)	610109	chromosome 12 open reading frame 3, transmembrane protein 16B, anoctamin 2	C12orf3, TMEM16B	NA	12739008, 15067359, 24692353	Standard	NM_020373	NM_001278596	NA	Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.468G>T	12.37:g.6030260C>A	ENSP00000348453:p.Glu156Asp	NA	C4N787|Q9H847	37		.	.	.	.	.	.	.	.	.	.	C	10.92	1.487384	0.26686	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.67171	-0.25;-0.25;-0.25	4.84	0.727	0.18254	.	0.233174	0.36591	N	0.002519	T	0.45696	0.1355	L	0.29908	0.895	0.38548	D	0.949394	B	0.16603	0.018	B	0.20184	0.028	T	0.18023	-1.0350	10	0.41790	T	0.15	.	1.6431	0.02756	0.1484:0.4665:0.1359:0.2493	.	156	Q9NQ90-3	.	D	156;156;156;160	ENSP00000314048:E156D;ENSP00000348453:E156D;ENSP00000440981:E156D	ENSP00000314048:E156D	E	-	3	2	ANO2	5900521	0.879000	0.30193	0.996000	0.52242	0.849000	0.48306	-0.160000	0.10041	-0.157000	0.11059	-0.253000	0.11424	GAG	ANO2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000399019.4		-	ENST00000356134.5	Missense_Mutation	SNP	12 : 6030260 - 6030260 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	373	62
HSPBP1	23640	broad.mit.edu	37	19	55777302	55777302	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55777302C>T	ENST00000255631.5	-	7	1155	c.845G>A	c.(844-846)cGg>cAg	p.R282Q	HSPBP1_ENST00000433386.2_Missense_Mutation_p.R282Q|HSPBP1_ENST00000376343.3_Intron|HSPBP1_ENST00000587922.1_Missense_Mutation_p.R282Q	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	285					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GTGCTCTGTCCGCACCAGGGC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	19	19			NA	NA	19		NA											NA				55777302		2201	4298	6499	SO:0001583	missense				CCDS33111.1	19q13.42	2008-12-16			ENSG00000133265	ENSG00000133265	23640	23640			24989	protein-coding gene	gene with protein product	hsp70 interacting protein, Hsp70 binding protein 1	612939			NA	10786638, 9830037	Standard	NM_012267	NM_001130106	NA	Approved	HspBP1, FES1	uc002qkd.3	Q9NZL4		ENST00000255631.5:c.845G>A	19.37:g.55777302C>T	ENSP00000255631:p.Arg282Gln	NA	B3KQP0|O95351|Q6ZNU5	37	CCDS33111.1	.	.	.	.	.	.	.	.	.	.	c	14.79	2.640143	0.47153	.	.	ENSG00000133265	ENST00000433386;ENST00000255631	T;T	0.50548	0.74;0.74	4.19	4.19	0.49359	Armadillo-like helical (1);Armadillo-type fold (1);	0.201340	0.43110	D	0.000614	T	0.46619	0.1402	L	0.31752	0.955	0.80722	D	1	D;B	0.89917	1.0;0.086	P;B	0.55545	0.778;0.004	T	0.26710	-1.0095	10	0.10377	T	0.69	-5.7405	15.7097	0.77615	0.0:1.0:0.0:0.0	.	285;328	Q9NZL4;B4DG11	HPBP1_HUMAN;.	Q	282	ENSP00000398244:R282Q;ENSP00000255631:R282Q	ENSP00000255631:R282Q	R	-	2	0	HSPBP1	60469114	1.000000	0.71417	0.957000	0.39632	0.983000	0.72400	2.363000	0.44178	2.058000	0.61347	0.486000	0.48141	CGG	HSPBP1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452670.1		-	ENST00000255631.5	Missense_Mutation	SNP	19 : 55777302 - 55777302 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	106	10
CACNA1G	8913	broad.mit.edu	37	17	48676891	48676891	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48676891C>T	ENST00000352832.5	+	16	3664	c.3292C>T	c.(3292-3294)Cgg>Tgg	p.R1098W	CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1121W|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1098W|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1098W|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1098W|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1098W|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1121W|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1098W|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1098W|CACNA1G_ENST00000359106.5_Missense_Mutation_p.R1121W|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000416767.4_Missense_Mutation_p.R1121W|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1098W|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1121W|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1121W	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1121					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CAGCCTGAAGCGGAGAAGCCC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	27	24			NA	NA	17		NA											NA				48676891		2032	4162	6194	SO:0001583	missense			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283	8913	8913		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1394	protein-coding gene	gene with protein product		604065			NA	9495342, 16382099	Standard	NM_018896	NM_001256334	NA	Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000352832.5:c.3292C>T	17.37:g.48676891C>T	ENSP00000339302:p.Arg1098Trp	NA	O43498|O94770|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	37	CCDS45735.1	.	.	.	.	.	.	.	.	.	.	c	19.76	3.887994	0.72410	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97	4.47	4.47	0.54385	.	0.065248	0.64402	D	0.000006	D	0.91696	0.7375	M	0.73217	2.22	0.54753	D	0.99998	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;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;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.991;0.995;0.997;0.996;0.999;0.997;0.994;0.999;0.994;0.995;0.999;0.994;0.995;0.999;0.992;0.996;0.982;0.977;0.999;0.995;0.988;0.987;0.999;0.982;0.99;0.992	D	0.92762	0.6225	10	0.72032	D	0.01	.	17.3164	0.87225	0.0:1.0:0.0:0.0	.	1098;1121;1121;1121;1121;1121;1121;1121;1121;1121;1121;1098;1121;1121;1121;1121;1121;1098;1121;1098;1098;1098;1098;1121;1098;1121	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	W	1098;1098;1121;1098;1098;1098;1121;1121;1098;1121;1121;1121;1121;1121;1121;1098;1121;1121;1121;1121;1098;1121;1121;1121;1121;1121	ENSP00000353990:R1098W;ENSP00000339302:R1098W;ENSP00000392390:R1121W;ENSP00000347078:R1098W;ENSP00000409759:R1098W;ENSP00000425522:R1098W;ENSP00000426261:R1121W;ENSP00000425451:R1121W;ENSP00000422407:R1098W;ENSP00000426814:R1121W;ENSP00000427238:R1121W;ENSP00000423112:R1121W;ENSP00000420918:R1121W;ENSP00000426172:R1121W;ENSP00000423045:R1121W;ENSP00000427173:R1098W;ENSP00000426098:R1121W;ENSP00000425698:R1121W;ENSP00000426232:R1121W;ENSP00000423317:R1121W;ENSP00000350979:R1098W;ENSP00000352011:R1121W;ENSP00000414388:R1121W;ENSP00000423155:R1121W;ENSP00000422268:R1121W;ENSP00000421518:R1121W	ENSP00000339302:R1098W	R	+	1	2	CACNA1G	46031890	1.000000	0.71417	0.997000	0.53966	0.953000	0.61014	2.372000	0.44257	2.322000	0.78497	0.561000	0.74099	CGG	CACNA1G-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367893.2		+	ENST00000352832.5	Missense_Mutation	SNP	17 : 48676891 - 48676891 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	87	15
DIDO1	11083	broad.mit.edu	37	20	61511392	61511392	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61511392G>A	ENST00000266070.4	-	16	6241	c.5916C>T	c.(5914-5916)gtC>gtT	p.V1972V	DIDO1_ENST00000395343.1_Silent_p.V1972V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1972	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTGGTGAATGGACCCTCTGGT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)							NA				0													131	153	146			NA	NA	20		NA											NA				61511392		2203	4298	6501	SO:0001819	synonymous_variant			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191	11083	11083		Zinc fingers, PHD-type	2680	protein-coding gene	gene with protein product		604140	chromosome 20 open reading frame 158, death associated transcription factor 1	C20orf158, DATF1	NA	10393935	Standard	NM_080796	NM_033081	NA	Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5916C>T	20.37:g.61511392G>A		NA	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	37	CCDS33506.1																																																																																			DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080091.2		-	ENST00000266070.4	Silent	SNP	20 : 61511392 - 61511392 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1289	265
CEP76	79959	broad.mit.edu	37	18	12699159	12699159	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12699159C>T	ENST00000262127.2	-	4	564	c.339G>A	c.(337-339)ttG>ttA	p.L113L	PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000423709.2_Intron|CEP76_ENST00000586887.1_5'UTR	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	113					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTTTTCCACCCAAAACCTGAA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	100	101			NA	NA	18		NA											NA				12699159		2203	4300	6503	SO:0001819	synonymous_variant			BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624	79959	79959			25727	protein-coding gene	gene with protein product			chromosome 18 open reading frame 9	C18orf9	NA	14654843	Standard	NM_024899	NM_024899	NA	Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.339G>A	18.37:g.12699159C>T		NA	B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	37	CCDS11861.1																																																																																			CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254611.1		-	ENST00000262127.2	Silent	SNP	18 : 12699159 - 12699159 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	435	54
ECE1	1889	broad.mit.edu	37	1	21585263	21585263	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21585263C>T	ENST00000436918.2	-	6	734	c.685G>A	c.(685-687)Gcc>Acc	p.A229T	ECE1_ENST00000357071.4_Missense_Mutation_p.A217T|ECE1_ENST00000374893.6_Missense_Mutation_p.A229T|ECE1_ENST00000264205.6_Missense_Mutation_p.A226T|ECE1_ENST00000415912.2_Missense_Mutation_p.A213T			P42892	ECE1_HUMAN	endothelin converting enzyme 1	229					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CGGTAGTGGGCGGTGACCACC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													191	148	163			NA	NA	1		NA											NA				21585263		2203	4300	6503	SO:0001583	missense			D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298	1889	1889			3146	protein-coding gene	gene with protein product		600423		ECE	NA	7805846, 7864876, 17592116	Standard	NM_001397	NM_001397	NA	Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000436918.2:c.685G>A	1.37:g.21585263C>T	ENSP00000388439:p.Ala229Thr	NA	A8K3P1|B4E291|Q14217|Q17RN5|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	37		.	.	.	.	.	.	.	.	.	.	C	15.62	2.886033	0.51908	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83	5.1	3.15	0.36227	Peptidase M13 (1);	0.157018	0.56097	N	0.000028	T	0.65770	0.2723	L	0.50333	1.59	0.53688	D	0.999975	B;B;B;B;B	0.22146	0.031;0.065;0.033;0.015;0.053	B;B;B;B;B	0.21151	0.022;0.02;0.033;0.012;0.019	T	0.60762	-0.7199	10	0.59425	D	0.04	-26.2798	8.0527	0.30587	0.1784:0.7349:0.0:0.0867	.	229;213;229;217;226	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	T	213;217;229;229;226	ENSP00000405088:A213T;ENSP00000349581:A217T;ENSP00000364028:A229T;ENSP00000388439:A229T;ENSP00000264205:A226T	ENSP00000264205:A226T	A	-	1	0	ECE1	21457850	0.994000	0.37717	0.627000	0.29227	0.757000	0.42996	3.234000	0.51320	0.472000	0.27344	0.591000	0.81541	GCC	ECE1-008	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000007476.2		-	ENST00000436918.2	Missense_Mutation	SNP	1 : 21585263 - 21585263 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	332	31
ZNF845	91664	broad.mit.edu	37	19	53855474	53855474	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53855474A>C	ENST00000595091.1	+	5	1765	c.1546A>C	c.(1546-1548)Att>Ctt	p.I516L	ZNF845_ENST00000458035.1_Missense_Mutation_p.I516L			Q96IR2	ZN845_HUMAN	zinc finger protein 845	516					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACATAGGATAATTCATACTGG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	23	24			NA	NA	19		NA											NA				53855474		692	1590	2282	SO:0001583	missense			BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799	91664	91664		Zinc fingers, C2H2-type, -	25112	protein-coding gene	gene with protein product					NA		Standard	XM_039908	NM_138374	NA	Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1546A>C	19.37:g.53855474A>C	ENSP00000470005:p.Ile516Leu	NA		37	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	A	10.38	1.335541	0.24253	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.07327	3.2	2.04	-0.274	0.12910	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05914	0.0154	N	0.17379	0.485	0.09310	N	1	B	0.17667	0.023	B	0.32533	0.147	T	0.46162	-0.9211	9	0.37606	T	0.19	.	5.6646	0.17689	0.7162:0.0:0.2837:0.0	.	516	Q96IR2	ZN845_HUMAN	L	516	ENSP00000388311:I516L	ENSP00000412086:I516L	I	+	1	0	ZNF845	58547286	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	0.556000	0.23438	-0.291000	0.09012	0.333000	0.21579	ATT	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464359.1		+	ENST00000595091.1	Missense_Mutation	SNP	19 : 53855474 - 53855474 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	386	62
RYR3	6263	broad.mit.edu	37	15	34040438	34040438	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34040438C>T	ENST00000389232.4	+	54	8183	c.8113C>T	c.(8113-8115)Cga>Tga	p.R2705*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.R2705*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2705	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGAGAAGCTTCGAAGTGTGTC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	70	68			NA	NA	15		NA											NA				34040438		1954	4150	6104	SO:0001587	stop_gained				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838	6263	6263		Ion channels / Ryanodine receptors, EF-hand domain containing	10485	protein-coding gene	gene with protein product		180903			NA	8276408	Standard		NM_001036	NA	Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.8113C>T	15.37:g.34040438C>T	ENSP00000373884:p.Arg2705*	NA	O15175|Q15412	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	50	16.492308	0.99864	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.18	5.18	0.71444	.	0.071281	0.56097	D	0.000040	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8778	0.92345	0.0:1.0:0.0:0.0	.	.	.	.	X	2705	.	ENSP00000354735:R2705X	R	+	1	2	RYR3	31827730	1.000000	0.71417	0.996000	0.52242	0.910000	0.53928	4.110000	0.57831	2.679000	0.91253	0.655000	0.94253	CGA	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417514.1		+	ENST00000389232.4	Nonsense_Mutation	SNP	15 : 34040438 - 34040438 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	213	31
CEP95	90799	broad.mit.edu	37	17	62518874	62518874	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62518874T>C	ENST00000556440.2	+	8	1280	c.770T>C	c.(769-771)aTc>aCc	p.I257T	CEP95_ENST00000553412.1_Missense_Mutation_p.I93T	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	257						centrosome|spindle pole	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						GGGGAGCCTATCCGAGCAGCT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	90	90			NA	NA	17		NA											NA				62518874		1894	4115	6009	SO:0001583	missense			AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890	90799	90799			25141	protein-coding gene	gene with protein product			coiled-coil domain containing 45	CCDC45	NA	21399614	Standard	NM_138363	NM_138363	NA	Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.770T>C	17.37:g.62518874T>C	ENSP00000450461:p.Ile257Thr	NA	Q96M81	37	CCDS45763.1	.	.	.	.	.	.	.	.	.	.	T	19.00	3.740897	0.69304	.	.	ENSG00000258890	ENST00000553956;ENST00000556440;ENST00000553412	T;T	0.50001	0.76;0.76	5.73	5.73	0.89815	.	0.151535	0.50627	D	0.000119	T	0.65801	0.2726	M	0.68952	2.095	0.38261	D	0.941871	D	0.76494	0.999	D	0.67382	0.951	T	0.72343	-0.4322	10	0.87932	D	0	-8.3178	14.5846	0.68315	0.0:0.0:0.0:1.0	.	257	Q96GE4	CEP95_HUMAN	T	192;257;93	ENSP00000450461:I257T;ENSP00000450906:I93T	ENSP00000438458:I192T	I	+	2	0	CEP95	59949336	0.998000	0.40836	0.819000	0.32651	0.488000	0.33401	5.430000	0.66501	2.191000	0.70037	0.482000	0.46254	ATC	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445100.2		+	ENST00000556440.2	Missense_Mutation	SNP	17 : 62518874 - 62518874 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	374	66
AVIL	10677	broad.mit.edu	37	12	58203397	58203397	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58203397C>A	ENST00000257861.3	-	8	1352	c.922G>T	c.(922-924)Gcc>Tcc	p.A308S	AVIL_ENST00000537081.1_Missense_Mutation_p.A301S	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	308	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TTAGACATGGCTGCCTGTTTT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	145	152			NA	NA	12		NA											NA				58203397		2203	4300	6503	SO:0001583	missense			AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407	10677	10677			14188	protein-coding gene	gene with protein product		613397			NA	9664034, 12034507	Standard	NM_006576	NM_006576	NA	Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.922G>T	12.37:g.58203397C>A	ENSP00000257861:p.Ala308Ser	NA	B2RAU7|Q2NKM9	37	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045982	0.93685	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.59638	0.25;0.25	4.75	4.75	0.60458	Gelsolin domain (1);	0.104999	0.64402	D	0.000005	T	0.71745	0.3376	M	0.74467	2.265	0.80722	D	1	P;P	0.50819	0.939;0.903	P;P	0.55999	0.721;0.789	T	0.75941	-0.3140	10	0.72032	D	0.01	-13.5395	17.0043	0.86388	0.0:1.0:0.0:0.0	.	301;308	O75366-2;O75366	.;AVIL_HUMAN	S	301;308	ENSP00000443207:A301S;ENSP00000257861:A308S	ENSP00000257861:A308S	A	-	1	0	AVIL	56489664	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.512000	0.81728	2.619000	0.88677	0.655000	0.94253	GCC	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409276.1		-	ENST00000257861.3	Missense_Mutation	SNP	12 : 58203397 - 58203397 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	434	89
KEL	3792	broad.mit.edu	37	7	142655466	142655466	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142655466C>T	ENST00000355265.2	-	5	924	c.450G>A	c.(448-450)caG>caA	p.Q150Q	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	150					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AGTTGTAGAACTGGAAGGCTT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	77	79			NA	NA	7		NA											NA				142655466		2203	4300	6503	SO:0001819	synonymous_variant			BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993	3792	3792		CD molecules, Blood group antigens	6308	protein-coding gene	gene with protein product		613883	Kell blood group, Kell blood group, metalloendopeptidase		NA	1712490, 7683930	Standard	NM_000420	NM_000420	NA	Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.450G>A	7.37:g.142655466C>T		NA	B2RBV4|Q96RS8|Q99885	37	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	C	7.317	0.616103	0.14129	.	.	ENSG00000197993	ENST00000460479	.	.	.	5.82	-11.6	0.00059	.	.	.	.	.	T	0.47544	0.1451	.	.	.	0.45015	D	0.998033	.	.	.	.	.	.	T	0.61212	-0.7108	4	.	.	.	-5.1862	10.7615	0.46268	0.0:0.5237:0.3217:0.1546	.	.	.	.	I	161	.	.	V	-	1	0	KEL	142365588	0.006000	0.16342	0.424000	0.26647	0.825000	0.46686	-1.360000	0.02600	-1.456000	0.01921	-0.225000	0.12378	GTT	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347671.2		-	ENST00000355265.2	Silent	SNP	7 : 142655466 - 142655466 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	34
HSD17B2	3294	broad.mit.edu	37	16	82069166	82069166	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:82069166C>T	ENST00000199936.4	+	1	330	c.137C>T	c.(136-138)gCa>gTa	p.A46V		NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	46					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	GGCCTCTGTGCAGTCTGCCTG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	86	99			NA	NA	16		NA											NA				82069166		2201	4300	6501	SO:0001583	missense				CCDS10936.1	16q24.1-q24.2	2011-09-14			ENSG00000086696	ENSG00000086696	3294	3294	1.1.1.62	Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2	5211	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 9C, member 2	109685			NA	7759109, 19027726	Standard	NM_002153	NM_002153	NA	Approved	HSD17, SDR9C2	uc002fgv.3	P37059	OTTHUMG00000137631	ENST00000199936.4:c.137C>T	16.37:g.82069166C>T	ENSP00000199936:p.Ala46Val	NA	B2R7T4	37	CCDS10936.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698495	0.30142	.	.	ENSG00000086696	ENST00000199936	D	0.83419	-1.72	5.31	0.988	0.19796	.	0.700950	0.12992	N	0.422406	T	0.67841	0.2936	N	0.22421	0.69	0.22240	N	0.999265	P	0.38335	0.627	B	0.35114	0.196	T	0.54180	-0.8332	10	0.23891	T	0.37	.	8.7751	0.34756	0.0891:0.5215:0.3895:0.0	.	46	P37059	DHB2_HUMAN	V	46	ENSP00000199936:A46V	ENSP00000199936:A46V	A	+	2	0	HSD17B2	80626667	0.997000	0.39634	0.982000	0.44146	0.169000	0.22640	0.538000	0.23160	0.291000	0.22468	-0.340000	0.08031	GCA	HSD17B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269057.2		+	ENST00000199936.4	Missense_Mutation	SNP	16 : 82069166 - 82069166 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	25
NYAP2	57624	broad.mit.edu	37	2	226516173	226516173	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:226516173C>T	ENST00000272907.6	+	6	2267	c.1854C>T	c.(1852-1854)ggC>ggT	p.G618G		NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	618											NA						GCAAATTAGGCCGGTCTGCGT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	175	175			NA	NA	2		NA											NA				226516173		2108	4239	6347	SO:0001819	synonymous_variant			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460	57624	57624			29291	protein-coding gene	gene with protein product		615478	KIAA1486	KIAA1486	NA	10819331, 21946561	Standard	NM_020864	NM_020864	NA	Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1854C>T	2.37:g.226516173C>T		NA	A2RRN4|Q96NL2	37	CCDS46529.1																																																																																			NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331258.1		+	ENST00000272907.6	Silent	SNP	2 : 226516173 - 226516173 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	827	156
PLIN3	10226	broad.mit.edu	37	19	4844705	4844705	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4844705G>A	ENST00000592528.1	-	7	960	c.899C>T	c.(898-900)cCc>cTc	p.P300L	PLIN3_ENST00000585479.1_Missense_Mutation_p.P312L|PLIN3_ENST00000221957.4_Missense_Mutation_p.P312L			O60664	PLIN3_HUMAN	perilipin 3	312					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	CTCCTTCTCGGGGCCCTGGAG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	28	30			NA	NA	19		NA											NA				4844705		2203	4300	6503	SO:0001583	missense			AF051314	CCDS12137.1, CCDS59337.1, CCDS59338.1	19p13.3	2009-08-12	2009-08-12	2009-08-12		ENSG00000105355	10226	10226		Perilipins	16893	protein-coding gene	gene with protein product	cargo selection protein (mannose 6 phosphate receptor binding protein), placental protein 17, MPR-BINDING PROTEIN, 47-KD	602702	mannose-6-phosphate receptor binding protein 1	M6PRBP1	NA	9590177, 6856484, 19638644	Standard	NM_005817	NM_005817	NA	Approved	TIP47, PP17	uc002mbj.2	O60664		ENST00000592528.1:c.899C>T	19.37:g.4844705G>A	ENSP00000467803:p.Pro300Leu	NA	A8K4Y9|Q53G77|Q9BS03|Q9UBD7|Q9UP92	37	CCDS59337.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.392630	0.25118	.	.	ENSG00000105355	ENST00000221957	T	0.05199	3.48	4.07	1.79	0.24919	.	1.707180	0.03546	U	0.224768	T	0.09335	0.0230	L	0.43152	1.355	0.09310	N	1	B;B;B	0.23249	0.028;0.082;0.035	B;B;B	0.24394	0.031;0.023;0.053	T	0.45234	-0.9275	10	0.36615	T	0.2	-25.0203	12.0524	0.53513	0.0:0.3346:0.6654:0.0	.	312;129;312	O60664-3;O60664-2;O60664	.;.;PLIN3_HUMAN	L	312	ENSP00000221957:P312L	ENSP00000221957:P312L	P	-	2	0	PLIN3	4795705	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-0.226000	0.09139	0.334000	0.23590	0.561000	0.74099	CCC	PLIN3-007	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450437.1		-	ENST00000592528.1	Missense_Mutation	SNP	19 : 4844705 - 4844705 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	89	14
CYC1	1537	broad.mit.edu	37	8	145151980	145151980	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145151980C>A	ENST00000318911.4	+	6	889	c.816C>A	c.(814-816)acC>acA	p.T272T		NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	272					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	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;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATGTGTGCACCTTCCTGCGCT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	53	62			NA	NA	8		NA											NA				145151980		2201	4300	6501	SO:0001819	synonymous_variant			BC001006	CCDS6415.1	8q24	2011-07-04			ENSG00000179091	ENSG00000179091	1537	1537		Mitochondrial respiratory chain complex / Complex III	2579	protein-coding gene	gene with protein product		123980			NA		Standard	NM_001916	NM_001916	NA	Approved	UQCR4	uc003zaz.4	P08574	OTTHUMG00000165242	ENST00000318911.4:c.816C>A	8.37:g.145151980C>A		NA	Q5U062|Q6FHS7	37	CCDS6415.1																																																																																			CYC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382895.1		+	ENST00000318911.4	Silent	SNP	8 : 145151980 - 145151980 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	68	12
OR5M3	219482	broad.mit.edu	37	11	56237249	56237249	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56237249T>C	ENST00000312240.2	-	1	765	c.725A>G	c.(724-726)cAt>cGt	p.H242R		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AGCTGTCAGATGGGACCCACA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	57	58			NA	NA	11		NA											NA				56237249		2201	4295	6496	SO:0001583	missense			AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937	219482	219482		GPCR / Class A : Olfactory receptors	14806	protein-coding gene	gene with protein product					NA		Standard	NM_001004742	NM_001004742	NA	Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.725A>G	11.37:g.56237249T>C	ENSP00000312208:p.His242Arg	NA	B2RNM7|Q6IEW4|Q96RC0	37	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.024257	0.75390	.	.	ENSG00000174937	ENST00000312240	T	0.00311	8.15	5.08	5.08	0.68730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44097	D	0.000482	T	0.01222	0.0040	H	0.98238	4.18	0.42064	D	0.991172	D	0.76494	0.999	D	0.78314	0.991	T	0.17992	-1.0351	10	0.72032	D	0.01	-15.4185	12.8019	0.57591	0.0:0.0:0.0:1.0	.	242	Q8NGP4	OR5M3_HUMAN	R	242	ENSP00000312208:H242R	ENSP00000312208:H242R	H	-	2	0	OR5M3	55993825	1.000000	0.71417	0.900000	0.35374	0.964000	0.63967	5.910000	0.69931	1.897000	0.54924	0.448000	0.29417	CAT	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391639.1		-	ENST00000312240.2	Missense_Mutation	SNP	11 : 56237249 - 56237249 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	369	64
ALDH1L1	10840	broad.mit.edu	37	3	125873462	125873462	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125873462C>T	ENST00000273450.3	-	6	902	c.685G>A	c.(685-687)Gcc>Acc	p.A229T	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A219T|ALDH1L1_ENST00000452905.2_Splice_Site_p.A118T|ALDH1L1_ENST00000455064.2_Missense_Mutation_p.A44T|ALDH1L1_ENST00000413612.1_5'UTR|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.A219T|ALDH1L1_ENST00000393434.2_Missense_Mutation_p.A219T	NM_001270364.1	NP_001257293.1	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	219					10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TTGTGAATGGCCTCTGCCGGC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	92	99			NA	NA	3		NA											NA				125873462		2203	4300	6503	SO:0001583	missense			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	10840	10840	1.5.1.6	Aldehyde dehydrogenases	3978	protein-coding gene	gene with protein product	cytosolic 10-formyltetrahydrofolate dehydrogenase	600249	formyltetrahydrofolate dehydrogenase	FTHFD	NA		Standard	NM_012190	NM_012190	NA	Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000273450.3:c.685G>A	3.37:g.125873462C>T	ENSP00000273450:p.Ala229Thr	NA	Q68CS1	37	CCDS58851.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.185578	0.57909	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431;ENST00000455064	T;T;T;T;T;T	0.77750	0.95;0.95;-1.12;0.95;0.95;0.95	4.64	3.76	0.43208	Formyl transferase, C-terminal-like (1);Formyl transferase, C-terminal (2);	0.124005	0.52532	D	0.000065	T	0.68622	0.3021	L	0.51853	1.615	0.48452	D	0.999652	P;B;B;B;B	0.36959	0.575;0.345;0.037;0.401;0.037	B;B;B;B;B	0.33799	0.153;0.17;0.034;0.14;0.034	T	0.64521	-0.6388	10	0.22706	T	0.39	.	11.9136	0.52753	0.1752:0.8248:0.0:0.0	.	44;118;271;124;219	B4DGC8;E9PBX3;Q59G10;Q9UFA9;O75891	.;.;.;.;AL1L1_HUMAN	T	229;219;118;219;219;44	ENSP00000273450:A229T;ENSP00000420293:A219T;ENSP00000395881:A118T;ENSP00000377083:A219T;ENSP00000377081:A219T;ENSP00000414126:A44T	ENSP00000273450:A229T	A	-	1	0	ALDH1L1	127356152	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.263000	0.51546	1.148000	0.42385	0.591000	0.81541	GCC	ALDH1L1-001	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000246897.1		-	ENST00000273450.3	Missense_Mutation	SNP	3 : 125873462 - 125873462 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	489	94
GRIPAP1	56850	broad.mit.edu	37	X	48840196	48840196	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48840196C>T	ENST00000376423.4	-	14	1136	c.1104G>A	c.(1102-1104)gaG>gaA	p.E368E	GRIPAP1_ENST00000376444.3_Silent_p.E376E|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376441.1_Silent_p.E421E|GRIPAP1_ENST00000376425.3_Silent_p.E390E			Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	421						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CCTTCCGAGCCTCCTGTAATT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													240	174	196			NA	NA	X		NA											NA				48840196		2203	4300	6503	SO:0001819	synonymous_variant			AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400	56850	56850			18706	protein-coding gene	gene with protein product		300408			NA	10896157	Standard	NM_207672	NM_020137	NA	Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376423.4:c.1104G>A	X.37:g.48840196C>T		NA	A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	37	CCDS35249.1																																																																																			GRIPAP1-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080964.2		-	ENST00000376423.4	Silent	SNP	X : 48840196 - 48840196 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	446	102
TTC8	123016	broad.mit.edu	37	14	89300058	89300058	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89300058G>A	ENST00000380656.2	+	2	182	c.136G>A	c.(136-138)Gtg>Atg	p.V46M	TTC8_ENST00000346301.4_Intron|TTC8_ENST00000345383.5_Intron|TTC8_ENST00000354441.6_Intron|TTC8_ENST00000338104.6_Intron|TTC8_ENST00000536576.1_Intron	NM_144596.2	NP_653197.2	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	46			Missing (in RP51).		cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TGAATTGCCAGTGCATCAGGT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	112	112			NA	NA	14		NA											NA				89300058		2203	4300	6503	SO:0001583	missense			AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533	123016	123016		Tetratricopeptide (TTC) repeat domain containing	20087	protein-coding gene	gene with protein product		608132			NA	14520415, 20451172	Standard	NM_144596	NM_144596	NA	Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000380656.2:c.136G>A	14.37:g.89300058G>A	ENSP00000370031:p.Val46Met	NA	A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	37	CCDS32137.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.251971	0.22880	.	.	ENSG00000165533	ENST00000380656	T	0.77229	-1.08	5.79	1.82	0.25136	.	.	.	.	.	T	0.53818	0.1820	N	0.08118	0	0.18873	N	0.999988	B	0.15473	0.013	B	0.11329	0.006	T	0.37957	-0.9683	9	0.26408	T	0.33	.	4.7346	0.12982	0.2461:0.0:0.6041:0.1498	.	46	Q8TAM2-4	.	M	46	ENSP00000370031:V46M	ENSP00000370031:V46M	V	+	1	0	TTC8	88369811	0.141000	0.22595	0.160000	0.22671	0.926000	0.56050	-0.107000	0.10873	0.346000	0.23899	0.561000	0.74099	GTG	TTC8-008	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410866.1		+	ENST00000380656.2	Missense_Mutation	SNP	14 : 89300058 - 89300058 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	346	49
TENM3	55714	broad.mit.edu	37	4	183713625	183713625	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:183713625C>A	ENST00000511685.1	+	26	5923	c.5800C>A	c.(5800-5802)Ctt>Att	p.L1934I	TENM3_ENST00000406950.2_Missense_Mutation_p.L1934I					teneurin transmembrane protein 3	NA											NA						GGAAGGGCTGCTTCTACAAAC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	64	64			NA	NA	4		NA											NA				183713625		1945	4131	6076	SO:0001583	missense			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336	55714	55714			29944	protein-coding gene	gene with protein product		610083	odz, odd Oz/ten-m homolog 3 (Drosophila)	ODZ3	NA	10331952, 10625539	Standard		NM_001080477	NA	Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.5800C>A	4.37:g.183713625C>A	ENSP00000424226:p.Leu1934Ile	NA		37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	7.420	0.636474	0.14386	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.88046	-2.33;-2.33	4.74	4.74	0.60224	.	.	.	.	.	D	0.89760	0.6808	L	0.39245	1.2	0.80722	D	1	D	0.63880	0.993	D	0.67548	0.952	D	0.86857	0.2027	9	0.22706	T	0.39	.	18.268	0.90057	0.0:1.0:0.0:0.0	.	1934	Q9P273	TEN3_HUMAN	I	1934	ENSP00000424226:L1934I;ENSP00000385276:L1934I	ENSP00000385276:L1934I	L	+	1	0	ODZ3	183950619	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	5.804000	0.69135	2.608000	0.88229	0.591000	0.81541	CTT	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361734.1		+	ENST00000511685.1	Missense_Mutation	SNP	4 : 183713625 - 183713625 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	298	75
PLA2G3	50487	broad.mit.edu	37	22	31531903	31531903	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31531903C>T	ENST00000215885.3	-	7	1588	c.1336G>A	c.(1336-1338)Gcc>Acc	p.A446T		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	446					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						ACCCTGATGGCCCTAGGGTCT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	45	44			NA	NA	22		NA											NA				31531903		2203	4300	6503	SO:0001583	missense			AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	50487	50487	3.1.1.4		17934	protein-coding gene	gene with protein product		611651			NA	10713052	Standard	NM_015715	NM_015715	NA	Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.1336G>A	22.37:g.31531903C>T	ENSP00000215885:p.Ala446Thr	NA	O95768	37	CCDS13889.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333843	0.60853	.	.	ENSG00000100078	ENST00000215885	T	0.30981	1.51	5.27	5.27	0.74061	Phospholipase A2 (2);	0.201738	0.42682	D	0.000673	T	0.52948	0.1766	M	0.71581	2.175	0.37492	D	0.916428	D	0.89917	1.0	D	0.80764	0.994	T	0.53613	-0.8414	10	0.30854	T	0.27	-9.2791	14.739	0.69440	0.0:1.0:0.0:0.0	.	446	Q9NZ20	PA2G3_HUMAN	T	446	ENSP00000215885:A446T	ENSP00000215885:A446T	A	-	1	0	PLA2G3	29861903	0.999000	0.42202	0.972000	0.41901	0.360000	0.29518	3.589000	0.53972	2.631000	0.89168	0.655000	0.94253	GCC	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321938.1		-	ENST00000215885.3	Missense_Mutation	SNP	22 : 31531903 - 31531903 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	377	83
A4GALT	53947	broad.mit.edu	37	22	43089256	43089256	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43089256C>T	ENST00000401850.1	-	2	1191	c.702G>A	c.(700-702)atG>atA	p.M234I	A4GALT_ENST00000249005.2_Missense_Mutation_p.M234I|A4GALT_ENST00000381278.3_Missense_Mutation_p.M234I			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	234					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						CGAAGTCCCGCATGCACAGCG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	19	20			NA	NA	22		NA											NA				43089256		2197	4298	6495	SO:0001583	missense				CCDS14041.1	22q13.2	2014-07-18	2008-07-31		ENSG00000128274	ENSG00000128274	53947	53947	2.4.1.228		18149	protein-coding gene	gene with protein product	Gb3 synthase, CD77 synthase, globotriaosylceramide synthase, lactosylceramide 4-alpha-galactosyltransferase	607922	alpha 1,4-galactosyltransferase (globotriaosylceramide synthase, P blood group)		NA	10854428	Standard	NM_017436	XM_005261643	NA	Approved	A14GALT, Gb3S, P(k)	uc003bdb.3	Q9NPC4	OTTHUMG00000150744	ENST00000401850.1:c.702G>A	22.37:g.43089256C>T	ENSP00000384794:p.Met234Ile	NA	B2R7C4|Q9P1X5	37	CCDS14041.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786510	0.49997	.	.	ENSG00000128274	ENST00000401850;ENST00000249005;ENST00000381278;ENST00000535654	T;T;T	0.70749	-0.51;-0.51;-0.51	5.13	4.11	0.48088	Alpha 1,4-glycosyltransferase domain (1);	0.082662	0.49916	D	0.000121	T	0.53578	0.1805	N	0.16903	0.455	0.32743	N	0.507462	B	0.10296	0.003	B	0.14023	0.01	T	0.57118	-0.7866	10	0.30078	T	0.28	-9.3769	12.372	0.55260	0.0:0.9157:0.0:0.0843	.	234	Q9NPC4	A4GAT_HUMAN	I	234	ENSP00000384794:M234I;ENSP00000249005:M234I;ENSP00000370678:M234I	ENSP00000249005:M234I	M	-	3	0	A4GALT	41419200	0.995000	0.38212	0.985000	0.45067	0.975000	0.68041	2.988000	0.49386	1.143000	0.42306	0.561000	0.74099	ATG	A4GALT-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319917.1		-	ENST00000401850.1	Missense_Mutation	SNP	22 : 43089256 - 43089256 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	168	9
C20orf195	79025	broad.mit.edu	37	20	62187886	62187886	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62187886G>A	ENST00000370098.3	+	2	962	c.870G>A	c.(868-870)acG>acA	p.T290T	C20orf195_ENST00000370097.1_Silent_p.T290T	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	290										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AGACCTCCACGCTGGTGTACG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	94	91			NA	NA	20		NA											NA				62187886		2203	4300	6503	SO:0001819	synonymous_variant				CCDS13526.1	20q13.33	2014-02-12			ENSG00000125531	ENSG00000125531	79025	79025			28764	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024059	NM_024059	NA	Approved	MGC5356	uc002yfj.3	Q9BVV2	OTTHUMG00000032980	ENST00000370098.3:c.870G>A	20.37:g.62187886G>A		NA		37	CCDS13526.1																																																																																			C20orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080155.1		+	ENST00000370098.3	Silent	SNP	20 : 62187886 - 62187886 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1023	107
CDH23	64072	broad.mit.edu	37	10	73571308	73571308	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73571308C>T	ENST00000224721.6	+	63	9259	c.9254C>T	c.(9253-9255)gCc>gTc	p.A3085V	CDH23_ENST00000398788.3_Missense_Mutation_p.A840V|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3080					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TTCCTGGCCGCCATGCTCTTT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	128	125			NA	NA	10		NA											NA				73571308		2158	4240	6398	SO:0001583	missense			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736	64072	64072		Cadherins / Cadherin-related	13733	protein-coding gene	gene with protein product	cadherin-related family member 23	605516	cadherin related 23, cadherin-like 23	DFNB12, USH1D	NA	11090341	Standard	NM_052836	NM_022124	NA	Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.9254C>T	10.37:g.73571308C>T	ENSP00000224721:p.Ala3085Val	NA	C4IXS9|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	37		.	.	.	.	.	.	.	.	.	.	C	15.29	2.788300	0.49997	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.58358	0.34	5.36	5.36	0.76844	.	0.072195	0.53938	D	0.000051	T	0.47173	0.1431	L	0.46157	1.445	0.52099	D	0.999943	B;B	0.14012	0.009;0.009	B;B	0.10450	0.005;0.005	T	0.37709	-0.9694	10	0.40728	T	0.16	.	14.3129	0.66429	0.0:0.9264:0.0:0.0735	.	3080;3080	E9PEX1;Q9H251	.;CAD23_HUMAN	V	3085;3080;3083;840	ENSP00000381768:A840V	ENSP00000224721:A3085V	A	+	2	0	CDH23	73241314	1.000000	0.71417	0.993000	0.49108	0.772000	0.43724	4.146000	0.58072	2.520000	0.84964	0.555000	0.69702	GCC	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000051227.4		+	ENST00000224721.6	Missense_Mutation	SNP	10 : 73571308 - 73571308 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	519	93
CHRM5	1133	broad.mit.edu	37	15	34355722	34355722	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34355722G>T	ENST00000383263.5	+	3	1474	c.804G>T	c.(802-804)caG>caT	p.Q268H	CHRM5_ENST00000557872.1_Missense_Mutation_p.Q268H	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	268					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	AAAGGAACCAGGCCTCCTGGT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	52	52			NA	NA	15		NA											NA				34355722		2201	4298	6499	SO:0001583	missense				CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984	NA	1133		Cholinergic receptors, GPCR / Class A : Cholinergic receptors, muscarinic	1954	protein-coding gene	gene with protein product	acetylcholine receptor, muscarinic 5	118496			NA		Standard		NM_012125	NA	Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.804G>T	15.37:g.34355722G>T	ENSP00000372750:p.Gln268His	NA	Q96RG7	37	CCDS10031.1	.	.	.	.	.	.	.	.	.	.	G	5.053	0.195375	0.09599	.	.	ENSG00000184984	ENST00000383263	T	0.61980	0.06	5.42	1.22	0.21188	GPCR, rhodopsin-like superfamily (1);	0.538533	0.19932	N	0.102821	T	0.55893	0.1949	M	0.65498	2.005	0.42048	D	0.991109	B	0.10296	0.003	B	0.12156	0.007	T	0.51092	-0.8749	10	0.54805	T	0.06	-2.3311	7.9424	0.29965	0.1768:0.1361:0.6871:0.0	.	268	P08912	ACM5_HUMAN	H	268	ENSP00000372750:Q268H	ENSP00000372750:Q268H	Q	+	3	2	CHRM5	32143014	1.000000	0.71417	0.663000	0.29738	0.146000	0.21551	0.908000	0.28545	0.051000	0.15978	0.650000	0.86243	CAG	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251521.2		+	ENST00000383263.5	Missense_Mutation	SNP	15 : 34355722 - 34355722 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	486	87
SMTN	6525	broad.mit.edu	37	22	31483985	31483985	+	Missense_Mutation	SNP	G	G	A	rs145193216	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31483985G>A	ENST00000358743.1	+	3	304	c.86G>A	c.(85-87)cGc>cAc	p.R29H	SMTN_ENST00000475548.1_3'UTR|SMTN_ENST00000333137.7_Missense_Mutation_p.R29H|SMTN_ENST00000347557.2_Missense_Mutation_p.R29H	NM_134270.2	NP_599032.2	P53814	SMTN_HUMAN	smoothelin	29					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						GAGCGGCGGCGCATCCGCTCA	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	23	22			NA	NA	22		NA											NA				31483985		2192	4282	6474	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.86G>A	22.37:g.31483985G>A	ENSP00000351593:p.Arg29His	NA	O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	37	CCDS13887.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190406	0.58017	.	.	ENSG00000183963	ENST00000432777;ENST00000422839;ENST00000426927;ENST00000440425;ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000431481	T;T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63	4.8	3.78	0.43462	.	0.000000	0.35970	N	0.002864	T	0.32645	0.0836	N	0.24115	0.695	0.80722	D	1	B;B;B;B;B;B	0.23185	0.081;0.081;0.047;0.047;0.047;0.038	B;B;B;B;B;B	0.20384	0.029;0.029;0.029;0.029;0.029;0.017	T	0.18178	-1.0345	10	0.87932	D	0	-7.7084	9.594	0.39563	0.1598:0.0:0.8402:0.0	.	85;83;21;29;29;29	E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5	.;.;.;.;SMTN_HUMAN;.	H	83;29;83;83;29;29;29;29;21;21	ENSP00000398663:R83H;ENSP00000390453:R29H;ENSP00000399432:R83H;ENSP00000401341:R83H;ENSP00000351593:R29H;ENSP00000328635:R29H;ENSP00000329532:R29H;ENSP00000394637:R21H	ENSP00000329393:R29H	R	+	2	0	SMTN	29813985	0.988000	0.35896	1.000000	0.80357	0.998000	0.95712	1.744000	0.38268	1.173000	0.42796	0.650000	0.86243	CGC	SMTN-003	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321768.1		+	ENST00000358743.1	Missense_Mutation	SNP	22 : 31483985 - 31483985 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	212	45
KCNB2	9312	broad.mit.edu	37	8	73848612	73848612	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:73848612T>G	ENST00000523207.1	+	3	1610	c.1022T>G	c.(1021-1023)tTt>tGt	p.F341C		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	341					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TTGATATTGTTTCTGGCCATG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	114	113			NA	NA	8		NA											NA				73848612		2203	4300	6503	SO:0001583	missense			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674	9312	9312		Potassium channels, Voltage-gated ion channels / Potassium channels	6232	protein-coding gene	gene with protein product		607738			NA	9612272, 16382104	Standard	NM_004770	NM_004770	NA	Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1022T>G	8.37:g.73848612T>G	ENSP00000430846:p.Phe341Cys	NA	Q7Z7D0|Q9BXD3	37	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.482737	0.84747	.	.	ENSG00000182674	ENST00000523207	D	0.98914	-5.23	5.74	5.74	0.90152	Ion transport (1);	0.000000	0.46758	D	0.000266	D	0.99202	0.9723	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99433	1.0936	10	0.87932	D	0	.	16.0257	0.80541	0.0:0.0:0.0:1.0	.	341	Q92953	KCNB2_HUMAN	C	341	ENSP00000430846:F341C	ENSP00000430846:F341C	F	+	2	0	KCNB2	74011166	1.000000	0.71417	0.953000	0.39169	0.987000	0.75469	8.040000	0.89188	2.182000	0.69389	0.533000	0.62120	TTT	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378998.1		+	ENST00000523207.1	Missense_Mutation	SNP	8 : 73848612 - 73848612 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	946	158
GRM1	2911	broad.mit.edu	37	6	146720792	146720792	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146720792C>T	ENST00000392299.2	+	8	3087	c.2617C>T	c.(2617-2619)Ctc>Ttc	p.L873F	GRM1_ENST00000507907.1_Missense_Mutation_p.L873F|GRM1_ENST00000355289.4_Missense_Mutation_p.L873F|GRM1_ENST00000282753.1_Missense_Mutation_p.L873F|GRM1_ENST00000361719.2_Missense_Mutation_p.L873F|GRM1_ENST00000492807.2_Missense_Mutation_p.L873F			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	873					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CAACACTTTCCTCAACATCTT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	33	35			NA	NA	6		NA											NA				146720792		2196	4286	6482	SO:0001583	missense			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822	2911	2911		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4593	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 85	604473			NA	9076744, 9376535	Standard	NM_000838	NM_001278064	NA	Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000392299.2:c.2617C>T	6.37:g.146720792C>T	ENSP00000376119:p.Leu873Phe	NA	B9EG79|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	37	CCDS47497.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.752399	0.89753	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.88664	-2.34;-2.35;-2.35;-2.34;-2.41;-2.35	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.93275	0.7857	M	0.72118	2.19	0.80722	D	1	D;D;D	0.76494	0.973;0.999;0.994	P;D;P	0.80764	0.802;0.994;0.837	D	0.91532	0.5243	10	0.39692	T	0.17	.	19.7753	0.96389	0.0:1.0:0.0:0.0	.	873;873;873	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	F	873	ENSP00000354896:L873F;ENSP00000376119:L873F;ENSP00000424095:L873F;ENSP00000282753:L873F;ENSP00000347437:L873F;ENSP00000425599:L873F	ENSP00000282753:L873F	L	+	1	0	GRM1	146762485	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.087000	0.71362	2.686000	0.91538	0.585000	0.79938	CTC	GRM1-202	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042575.2		+	ENST00000392299.2	Missense_Mutation	SNP	6 : 146720792 - 146720792 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	200	32
GOLGA7B	401647	broad.mit.edu	37	10	99624000	99624000	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99624000G>T	ENST00000370602.1	+	4	432	c.367G>T	c.(367-369)Gac>Tac	p.D123Y		NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN	golgin A7 family, member B	123						Golgi membrane				endometrium(1)|large_intestine(3)|prostate(1)	5						CCTACTTACAGACCCTGTGGA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	79	84			NA	NA	10		NA											NA				99624000		2203	4300	6503	SO:0001583	missense			BC008047	CCDS31265.1	10q24.2	2011-10-25	2010-02-12	2008-10-03	ENSG00000155265	ENSG00000155265	401647	401647			31668	protein-coding gene	gene with protein product		614189	chromosome 10 open reading frame 133, chromosome 10 open reading frame 132, golgi autoantigen, golgin subfamily a, 7B	C10orf133, C10orf132	NA		Standard	NM_001010917	NM_001010917	NA	Approved	bA459F3.4, bA451M19.3	uc001kos.3	Q2TAP0	OTTHUMG00000018869	ENST00000370602.1:c.367G>T	10.37:g.99624000G>T	ENSP00000359634:p.Asp123Tyr	NA	Q5T4F5	37	CCDS31265.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.363960	0.61513	.	.	ENSG00000155265	ENST00000370602	.	.	.	5.31	5.31	0.75309	Golgin subfamily A member 7/ERF4 (1);	0.000000	0.85682	D	0.000000	D	0.83991	0.5374	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85953	0.1465	9	0.72032	D	0.01	-58.8523	17.9131	0.88940	0.0:0.0:1.0:0.0	.	123	Q2TAP0	GOG7B_HUMAN	Y	123	.	ENSP00000359634:D123Y	D	+	1	0	GOLGA7B	99613990	1.000000	0.71417	0.950000	0.38849	0.038000	0.13279	9.601000	0.98297	2.779000	0.95612	0.655000	0.94253	GAC	GOLGA7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049752.1		+	ENST00000370602.1	Missense_Mutation	SNP	10 : 99624000 - 99624000 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	286	16
ANKRD22	118932	broad.mit.edu	37	10	90583062	90583062	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90583062C>T	ENST00000371930.4	-	5	683	c.473G>A	c.(472-474)cGt>cAt	p.R158H	ANKRD22_ENST00000476963.1_5'UTR	NM_144590.2	NP_653191.2	Q5VYY1	ANR22_HUMAN	ankyrin repeat domain 22	158										NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		GGGGTCTGCACGGGCTTCCAA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	111	111			NA	NA	10		NA											NA				90583062		2203	4300	6503	SO:0001583	missense			BC021671	CCDS7390.1	10q23.31	2013-09-20			ENSG00000152766	ENSG00000152766	118932	118932		Ankyrin repeat domain containing	28321	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_144590	NM_144590	NA	Approved	MGC22805	uc001kfj.4	Q5VYY1	OTTHUMG00000018699	ENST00000371930.4:c.473G>A	10.37:g.90583062C>T	ENSP00000360998:p.Arg158His	NA	B2R9Y7|Q8WU06	37	CCDS7390.1	.	.	.	.	.	.	.	.	.	.	C	9.470	1.095487	0.20471	.	.	ENSG00000152766	ENST00000371930	T	0.53206	0.63	5.57	-3.61	0.04556	Ankyrin repeat-containing domain (4);	0.758317	0.13380	N	0.392249	T	0.28665	0.0710	N	0.17594	0.5	0.09310	N	0.999994	B	0.02656	0.0	B	0.04013	0.001	T	0.10776	-1.0615	10	0.49607	T	0.09	-0.0029	12.4555	0.55702	0.0:0.4531:0.0:0.5469	.	158	Q5VYY1	ANR22_HUMAN	H	158	ENSP00000360998:R158H	ENSP00000360998:R158H	R	-	2	0	ANKRD22	90573042	0.226000	0.23696	0.327000	0.25402	0.421000	0.31385	-0.047000	0.11963	-0.922000	0.03789	-1.044000	0.02363	CGT	ANKRD22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049262.1		-	ENST00000371930.4	Missense_Mutation	SNP	10 : 90583062 - 90583062 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	517	23
ZNF709	163051	broad.mit.edu	37	19	12574913	12574913	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12574913C>T	ENST00000397732.3	-	4	1994	c.1823G>A	c.(1822-1824)cGa>cAa	p.R608Q	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.R608Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						AGTGTGAGTTCGTTCATGGAT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(33;565 669 12371 29134 51667)							NA				0								C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	138	148	145		1823	0.6	0	19		145	0,8600		0,0,4300	no	missense	ZNF709	NM_152601.3	43	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging	608/642	12574913	1,13005	2203	4300	6503	SO:0001583	missense			AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852	163051	163051		Zinc fingers, C2H2-type, -	20629	protein-coding gene	gene with protein product					NA		Standard	NM_152601	NM_152601	NA	Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1823G>A	19.37:g.12574913C>T	ENSP00000380840:p.Arg608Gln	NA		37	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367128	0.61513	2.27E-4	0.0	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.24723	1.84;1.84	2.79	0.644	0.17776	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44201	0.1282	M	0.74881	2.28	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.18745	-1.0327	9	0.72032	D	0.01	.	4.3592	0.11194	0.0:0.5712:0.1914:0.2374	.	608	Q8N972	ZN709_HUMAN	Q	608	ENSP00000380840:R608Q;ENSP00000404127:R608Q	ENSP00000404127:R608Q	R	-	2	0	ZNF709;CTD-2192J16.17	12435913	0.000000	0.05858	0.000000	0.03702	0.177000	0.22998	-0.070000	0.11523	0.250000	0.21479	0.655000	0.94253	CGA	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344088.1		-	ENST00000397732.3	Missense_Mutation	SNP	19 : 12574913 - 12574913 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	633	142
ST3GAL1	6482	broad.mit.edu	37	8	134477178	134477178	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:134477178C>A	ENST00000319914.5	-	6	1553	c.526G>T	c.(526-528)Ggg>Tgg	p.G176W	ST3GAL1_ENST00000522652.1_Missense_Mutation_p.G176W|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.G176W|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.G176W			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	176					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GCTTCAAACCCTGCCGTGGGC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	131	134			NA	NA	8		NA											NA				134477178		2203	4300	6503	SO:0001583	missense			L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	6482	6482	2.4.99.4	Sialyltransferases	10862	protein-coding gene	gene with protein product	ST3Gal I	607187	sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)	SIAT4A	NA	10504389, 7655169	Standard	NM_003033	NM_003033	NA	Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.526G>T	8.37:g.134477178C>A	ENSP00000318445:p.Gly176Trp	NA	O60677|Q9UN51	37	CCDS6373.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956753	0.73902	.	.	ENSG00000008513	ENST00000319914;ENST00000399640;ENST00000521180;ENST00000522652;ENST00000523854;ENST00000517668	T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14	4.84	4.84	0.62591	.	0.049817	0.85682	D	0.000000	T	0.66458	0.2791	M	0.90922	3.16	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.74553	-0.3627	10	0.87932	D	0	-10.1328	12.7902	0.57528	0.0:0.8355:0.1645:0.0	.	176	Q11201	SIA4A_HUMAN	W	176;176;176;176;46;46	ENSP00000318445:G176W;ENSP00000414073:G176W;ENSP00000428540:G176W;ENSP00000430515:G176W;ENSP00000429638:G46W;ENSP00000427720:G46W	ENSP00000318445:G176W	G	-	1	0	ST3GAL1	134546360	1.000000	0.71417	0.738000	0.30950	0.864000	0.49448	5.833000	0.69349	2.235000	0.73313	0.511000	0.50034	GGG	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379132.1		-	ENST00000319914.5	Missense_Mutation	SNP	8 : 134477178 - 134477178 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	990	169
APOF	319	broad.mit.edu	37	12	56755257	56755257	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56755257G>A	ENST00000398189.3	-	2	810	c.733C>T	c.(733-735)Ctt>Ttt	p.L245F	APOF_ENST00000541105.1_Missense_Mutation_p.L227F	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN	apolipoprotein F	245					cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding			breast(1)|lung(3)|prostate(1)|stomach(1)	6						GCAGGTTTAAGTGCAGCACTG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	94	95			NA	NA	12		NA											NA				56755257		1965	4162	6127	SO:0001583	missense			L27050	CCDS44923.1	12q13	2013-01-24				ENSG00000175336	319	319		Apolipoproteins	615	protein-coding gene	gene with protein product		107760			NA	8093033	Standard		NM_001638	NA	Approved		uc001sle.1	Q13790		ENST00000398189.3:c.733C>T	12.37:g.56755257G>A	ENSP00000381250:p.Leu245Phe	NA	Q8TC13	37	CCDS44923.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.302675	0.81136	.	.	ENSG00000175336	ENST00000398189;ENST00000541105	T;T	0.51325	0.71;0.71	5.34	5.34	0.76211	.	0.000000	0.34088	N	0.004277	T	0.66703	0.2816	M	0.62723	1.935	0.42344	D	0.992346	D	0.89917	1.0	D	0.87578	0.998	T	0.68938	-0.5277	10	0.72032	D	0.01	-8.6796	16.355	0.83232	0.0:0.0:1.0:0.0	.	245	Q13790	APOF_HUMAN	F	245;227	ENSP00000381250:L245F;ENSP00000440997:L227F	ENSP00000381250:L245F	L	-	1	0	APOF	55041524	1.000000	0.71417	0.996000	0.52242	0.925000	0.55904	3.441000	0.52893	2.677000	0.91161	0.655000	0.94253	CTT	APOF-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410076.1		-	ENST00000398189.3	Missense_Mutation	SNP	12 : 56755257 - 56755257 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	327	13
C7orf55-LUC7L2	100996928	broad.mit.edu	37	7	139092004	139092004	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139092004C>T	ENST00000354926.4	+	6	949	c.595C>T	c.(595-597)Ctt>Ttt	p.L199F	C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.L196F|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.L198F|LUC7L2_ENST00000541515.3_Missense_Mutation_p.L265F	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2			C7orf55-LUC7L2 readthrough	NA											NA						CTATTTAGGACTTCATGATAA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	89	92			NA	NA	7		NA											NA				139092004		1822	4083	5905	SO:0001583	missense				CCDS59084.1	7q34	2013-02-14			ENSG00000146963	ENSG00000146963	100996928	100996928			44671	other	readthrough					NA		Standard		NM_001244584	NA	Approved		uc011kqt.3		OTTHUMG00000151717	ENST00000354926.4:c.595C>T	7.37:g.139092004C>T	ENSP00000347005:p.Leu199Phe	NA		37	CCDS43656.1	.	.	.	.	.	.	.	.	.	.	C	34	5.399688	0.96030	.	.	ENSG00000146963	ENST00000541170;ENST00000541515;ENST00000545899;ENST00000354926;ENST00000263545	T;T;T;T	0.49139	1.54;1.54;1.54;0.79	5.84	5.84	0.93424	.	0.056875	0.64402	D	0.000001	T	0.72518	0.3470	M	0.79805	2.47	0.53005	D	0.999960	D;D;D;D	0.89917	1.0;0.998;0.998;0.999	D;D;D;D	0.81914	0.995;0.985;0.974;0.992	T	0.73642	-0.3918	9	0.59425	D	0.04	-8.0444	20.1336	0.98010	0.0:1.0:0.0:0.0	.	265;196;198;199	B7Z4Q3;B7Z500;Q9Y383-2;Q9Y383	.;.;.;LC7L2_HUMAN	F	196;265;199;199;198	ENSP00000441604:L196F;ENSP00000440222:L265F;ENSP00000347005:L199F;ENSP00000263545:L198F	ENSP00000263545:L198F	L	+	1	0	LUC7L2	138742544	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.767000	0.95098	0.591000	0.81541	CTT	C7orf55-LUC7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323618.2		+	ENST00000354926.4	Missense_Mutation	SNP	7 : 139092004 - 139092004 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	365	60
CSPG4	1464	broad.mit.edu	37	15	75975290	75975290	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75975290C>T	ENST00000308508.5	-	6	4634	c.4542G>A	c.(4540-4542)gaG>gaA	p.E1514E		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1514	Gly/Ser-rich (glycosaminoglycan attachment domain).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TGCTGGGCTGCTCGATGGTGT	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	20	20			NA	NA	15		NA											NA				75975290		2190	4289	6479	SO:0001819	synonymous_variant			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546	1464	1464		Proteoglycans / Cell surface : Other	2466	protein-coding gene	gene with protein product	melanoma-associated chondroitin sulfate proteoglycan	601172	chondroitin sulfate proteoglycan 4 (melanoma-associated)		NA	8790396, 16407841	Standard	NM_001897	NM_001897	NA	Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.4542G>A	15.37:g.75975290C>T		NA	D3DW77|Q92675	37	CCDS10284.1																																																																																			CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286472.1		-	ENST00000308508.5	Silent	SNP	15 : 75975290 - 75975290 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	209	47
TMC3	342125	broad.mit.edu	37	15	81666401	81666401	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81666401T>C	ENST00000558726.1	-	1	153	c.18A>G	c.(16-18)gcA>gcG	p.A6A	TMC3_ENST00000359440.5_Silent_p.A6A			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	6						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						AGCGCTGGGATGCCTTCGAGG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	76	76			NA	NA	15		NA											NA				81666401		2050	4204	6254	SO:0001819	synonymous_variant			AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869	342125	342125			22995	protein-coding gene	gene with protein product					NA	12906855, 12812529	Standard	NM_181841	NM_001080532	NA	Approved		uc021ssk.1	Q7Z5M5		ENST00000558726.1:c.18A>G	15.37:g.81666401T>C		NA	Q7Z405	37																																																																																				TMC3-004	NOVEL	NAGNAG_splice_site|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000439656.1		-	ENST00000558726.1	Silent	SNP	15 : 81666401 - 81666401 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	129	22
FBXO27	126433	broad.mit.edu	37	19	39516062	39516062	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39516062G>A	ENST00000292853.4	-	6	960	c.841C>T	c.(841-843)Cgt>Tgt	p.R281C	FBXO27_ENST00000509137.2_Missense_Mutation_p.R281C|FBXO27_ENST00000600828.1_Missense_Mutation_p.R280C	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	281					protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TAGGACAGACGGACTCGCACG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	119	103	109		841	-2.6	0	19		109	0,8600		0,0,4300	no	missense	FBXO27	NM_178820.3	180	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging	281/284	39516062	1,13005	2203	4300	6503	SO:0001583	missense			AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243	126433	126433		F-boxes /  other	18753	protein-coding gene	gene with protein product		609099	F-box only protein 27		NA	126433	Standard		NM_178820	NA	Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.841C>T	19.37:g.39516062G>A	ENSP00000292853:p.Arg281Cys	NA	Q96C87	37	CCDS12527.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.482081	0.44147	2.27E-4	0.0	ENSG00000161243	ENST00000292853;ENST00000509137	T;T	0.37235	1.21;1.21	3.41	-2.62	0.06152	.	1.761420	0.03259	N	0.183013	T	0.21881	0.0527	N	0.20685	0.6	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.20107	-1.0285	10	0.51188	T	0.08	-15.2278	3.283	0.06922	0.4933:0.0:0.3144:0.1923	.	281	Q8NI29	FBX27_HUMAN	C	281	ENSP00000292853:R281C;ENSP00000437662:R281C	ENSP00000292853:R281C	R	-	1	0	FBXO27	44207902	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.523000	0.06230	-0.420000	0.07427	-0.339000	0.08088	CGT	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463281.1		-	ENST00000292853.4	Missense_Mutation	SNP	19 : 39516062 - 39516062 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	495	76
TLR9	54106	broad.mit.edu	37	3	52258212	52258212	+	Missense_Mutation	SNP	G	G	A	rs151147353		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52258212G>A	ENST00000494383.1	-	5	579	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W	TLR9_ENST00000360658.2_Silent_p.H40H|TLR9_ENST00000597542.1_Silent_p.H64H			Q9NR96	TLR9_HUMAN	toll-like receptor 9	0					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TCACCAGGCCGTGGGGCTGGA	0.627		NA											g	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	EXOME	NA	NA	6e-04	SNP								NA				0								A		4,4402	8.1+/-20.4	0,4,2199	84	73	77		120	-10.4	0	3	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous	TLR9	NM_017442.3		0,4,6499	AA,AG,GG	NA	0.0,0.0908,0.0308		40/1033	52258212	4,13002	2203	4300	6503	SO:0001583	missense			AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732	54106	54106		CD molecules	15633	protein-coding gene	gene with protein product		605474			NA	11022119	Standard		NM_017442	NA	Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000494383.1:c.580C>T	3.37:g.52258212G>A	ENSP00000417517:p.Arg194Trp	NA	B3Y661|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	37		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	0.012	-1.652272	0.00785	9.08E-4	0.0	ENSG00000173366	ENST00000494383	.	.	.	5.21	-10.4	0.00318	.	.	.	.	.	T	0.19967	0.0480	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.16958	-1.0385	4	.	.	.	.	3.9338	0.09298	0.235:0.1249:0.4535:0.1866	.	.	.	.	W	194	.	.	R	-	1	2	RP11-330H6.5	52233252	0.000000	0.05858	0.000000	0.03702	0.150000	0.21749	-6.209000	0.00076	-5.697000	0.00010	-4.451000	0.00005	CGG	TLR9-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000367019.1		-	ENST00000494383.1	Missense_Mutation	SNP	3 : 52258212 - 52258212 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	298	32
NTNG2	84628	broad.mit.edu	37	9	135073579	135073579	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135073579C>T	ENST00000393229.3	+	3	1216	c.440C>T	c.(439-441)aCg>aTg	p.T147M	NTNG2_ENST00000372179.3_Missense_Mutation_p.T147M|NTNG2_ENST00000393228.4_Missense_Mutation_p.T147M|NTNG2_ENST00000360670.3_Missense_Mutation_p.T147M	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	147	Laminin N-terminal.				axonogenesis	anchored to plasma membrane		p.T147M(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GGCCGGCCCACGGTCATGGTC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											70	53	59			NA	NA	9		NA											NA				135073579		2203	4300	6503	SO:0001583	missense			AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358	84628	84628		Netrins	14288	protein-coding gene	gene with protein product	Netrin-G2		netrin G1	NTNG1	NA		Standard	NM_032536	NM_032536	NA	Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.440C>T	9.37:g.135073579C>T	ENSP00000376921:p.Thr147Met	NA	Q5JUJ2|Q6UXY0|Q96JH0	37	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118965	0.77323	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	T;T;T;T	0.75821	-0.97;0.94;0.94;-0.97	5.22	5.22	0.72569	Laminin, N-terminal (3);	0.062591	0.64402	D	0.000010	D	0.84424	0.5469	L	0.56769	1.78	0.49299	D	0.999778	D	0.89917	1.0	D	0.91635	0.999	D	0.85845	0.1400	10	0.72032	D	0.01	.	17.7699	0.88489	0.0:1.0:0.0:0.0	.	147	Q96CW9	NTNG2_HUMAN	M	147	ENSP00000376921:T147M;ENSP00000376920:T147M;ENSP00000353888:T147M;ENSP00000361252:T147M	ENSP00000353888:T147M	T	+	2	0	NTNG2	134063400	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	4.757000	0.62213	2.417000	0.82017	0.561000	0.74099	ACG	NTNG2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054779.1		+	ENST00000393229.3	Missense_Mutation	SNP	9 : 135073579 - 135073579 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	57
SLC25A30	253512	broad.mit.edu	37	13	45976427	45976427	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:45976427T>C	ENST00000539591.1	-	5	482	c.319A>G	c.(319-321)Aca>Gca	p.T107A				Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	158					mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		AGTCCTCTTGTCCCCTCTTGC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													278	266	270			NA	NA	13		NA											NA				45976427		2203	4300	6503	SO:0001583	missense			AK074457	CCDS31967.1, CCDS66539.1	13q14	2013-05-22			ENSG00000174032	ENSG00000174032	253512	253512		Solute carriers	27371	protein-coding gene	gene with protein product		610793			NA		Standard	XM_170736	XM_005266321	NA	Approved		uc001vag.3	Q5SVS4	OTTHUMG00000016853	ENST00000539591.1:c.319A>G	13.37:g.45976427T>C	ENSP00000443542:p.Thr107Ala	NA	B2RN96	37		.	.	.	.	.	.	.	.	.	.	T	12.21	1.870535	0.33069	.	.	ENSG00000174032	ENST00000519676;ENST00000536510;ENST00000539591;ENST00000519547;ENST00000522438	T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18	5.59	1.81	0.25067	Mitochondrial carrier domain (2);	0.146358	0.64402	N	0.000010	T	0.67021	0.2849	N	0.16098	0.37	0.43885	D	0.996502	P;P	0.46784	0.884;0.884	P;P	0.50537	0.643;0.643	T	0.62029	-0.6940	10	0.38643	T	0.18	-5.3928	9.0201	0.36195	0.0:0.2111:0.0:0.7889	.	158;158	Q5SVS4;B3KSR0	KMCP1_HUMAN;.	A	158;83;107;107;83	ENSP00000429168:T158A;ENSP00000443542:T107A;ENSP00000429308:T107A;ENSP00000430687:T83A	ENSP00000429308:T107A	T	-	1	0	SLC25A30	44874427	0.996000	0.38824	0.084000	0.20598	0.983000	0.72400	2.564000	0.45931	0.145000	0.18977	0.533000	0.62120	ACA	SLC25A30-201	KNOWN	basic	protein_coding	NA	protein_coding			-	ENST00000539591.1	Missense_Mutation	SNP	13 : 45976427 - 45976427 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	613	54
KCTD19	146212	broad.mit.edu	37	16	67360624	67360624	+	Translation_Start_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67360624G>T	ENST00000304372.5	-	0	42					NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	NA						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CGCGGCTCCAGCAGCGGGCGG	0.756		NA									OREG0023877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													7	9	8			NA	NA	16		NA											NA				67360624		1788	4011	5799					AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676	146212	146212			24753	protein-coding gene	gene with protein product			potassium channel tetramerisation domain containing 19		NA		Standard	XM_085367	NM_001100915	NA	Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.-14C>A	16.37:g.67360624G>T		1098	B4DZ49|Q8N804	37	CCDS42179.1																																																																																			KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000422061.1		-	ENST00000304372.5	De_novo_Start_OutOfFrame	SNP	16 : 67360624 - 67360624 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	175	8
SSTR5	6755	broad.mit.edu	37	16	1129926	1129926	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1129926C>T	ENST00000293897.4	+	1	1146	c.1058C>T	c.(1057-1059)gCc>gTc	p.A353V	SSTR5_ENST00000397547.2_Missense_Mutation_p.A353V|SSTR5_ENST00000562758.1_Intron	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	353					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	GCGCACCGCGCCGCAGCCAAC	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	13	13			NA	NA	16		NA											NA				1129926		2161	4257	6418	SO:0001583	missense			D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009	NA	6755		GPCR / Class A : Somatostatin receptors	11334	protein-coding gene	gene with protein product		182455			NA	7607700	Standard		NM_001053	NA	Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.1058C>T	16.37:g.1129926C>T	ENSP00000293897:p.Ala353Val	NA	P34988|Q9UJI5	37	CCDS10429.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746364	0.30955	.	.	ENSG00000162009	ENST00000397547;ENST00000293897	T;T	0.71461	-0.57;-0.57	4.76	2.77	0.32553	.	1.361990	0.04495	U	0.380244	T	0.60314	0.2259	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.40905	-0.9538	10	0.23891	T	0.37	.	9.249	0.37543	0.0:0.5594:0.3532:0.0874	.	353	P35346	SSR5_HUMAN	V	353	ENSP00000380680:A353V;ENSP00000293897:A353V	ENSP00000293897:A353V	A	+	2	0	SSTR5	1069927	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.008000	0.13197	0.420000	0.25954	0.561000	0.74099	GCC	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000420836.1		+	ENST00000293897.4	Missense_Mutation	SNP	16 : 1129926 - 1129926 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	121	10
ZNF845	91664	broad.mit.edu	37	19	53854630	53854630	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53854630G>T	ENST00000595091.1	+	5	921	c.702G>T	c.(700-702)caG>caT	p.Q234H	ZNF845_ENST00000458035.1_Missense_Mutation_p.Q234H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GGAAACATCAGATAATCCATT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	74	79			NA	NA	19		NA											NA				53854630		692	1591	2283	SO:0001583	missense			BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799	91664	91664		Zinc fingers, C2H2-type, -	25112	protein-coding gene	gene with protein product					NA		Standard	XM_039908	NM_138374	NA	Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.702G>T	19.37:g.53854630G>T	ENSP00000470005:p.Gln234His	NA		37	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	6.730	0.503524	0.12822	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.18502	2.21	2.05	-1.83	0.07833	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13200	0.0320	L	0.57130	1.785	0.09310	N	1	B	0.17038	0.02	B	0.12837	0.008	T	0.40308	-0.9570	9	0.54805	T	0.06	.	0.3104	0.00287	0.3771:0.1976:0.2259:0.1993	.	234	Q96IR2	ZN845_HUMAN	H	234	ENSP00000388311:Q234H	ENSP00000412086:Q234H	Q	+	3	2	ZNF845	58546442	0.000000	0.05858	0.006000	0.13384	0.060000	0.15804	0.337000	0.19841	-0.199000	0.10317	0.205000	0.17691	CAG	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464359.1		+	ENST00000595091.1	Missense_Mutation	SNP	19 : 53854630 - 53854630 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	397	76
XRCC5	7520	broad.mit.edu	37	2	216977824	216977824	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216977824A>G	ENST00000392133.3	+	4	568	c.107A>G	c.(106-108)aAg>aGg	p.K36R	XRCC5_ENST00000392132.2_Missense_Mutation_p.K36R			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	36					double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		CAAGCAAAGAAGGTGATAACC	0.438		NA						Non-homologous end-joining						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	145	145			NA	NA	2		NA											NA				216977824		2203	4300	6503	SO:0001583	missense			AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246	7520	7520			12833	protein-coding gene	gene with protein product	Ku autoantigen, 80kDa	194364	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)		NA	9636207, 9214634	Standard	NM_021141	NM_021141	NA	Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.107A>G	2.37:g.216977824A>G	ENSP00000375978:p.Lys36Arg	NA	A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	37	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.486462	0.26686	.	.	ENSG00000079246	ENST00000392133;ENST00000392132;ENST00000417391	T;T	0.29917	1.55;1.55	5.12	5.12	0.69794	Ku70/Ku80, N-terminal alpha/beta (1);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	T	0.34513	0.0900	M	0.69248	2.105	0.80722	D	1	B	0.27625	0.183	B	0.29353	0.101	T	0.12400	-1.0549	10	0.36615	T	0.2	.	14.249	0.66007	1.0:0.0:0.0:0.0	.	36	P13010	XRCC5_HUMAN	R	36;36;23	ENSP00000375978:K36R;ENSP00000375977:K36R	ENSP00000375977:K36R	K	+	2	0	XRCC5	216686069	1.000000	0.71417	1.000000	0.80357	0.174000	0.22865	6.704000	0.74639	2.150000	0.67090	0.533000	0.62120	AAG	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256675.3		+	ENST00000392133.3	Missense_Mutation	SNP	2 : 216977824 - 216977824 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	394	77
TLN1	7094	broad.mit.edu	37	9	35699410	35699410	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35699410A>C	ENST00000314888.9	-	51	7170	c.6817T>G	c.(6817-6819)Tca>Gca	p.S2273A	TLN1_ENST00000540444.1_Missense_Mutation_p.S2161A	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2273					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACACGCTTTGAATGTCCTGTC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	126	137			NA	NA	9		NA											NA				35699410		2203	4300	6503	SO:0001583	missense			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076	7094	7094			11845	protein-coding gene	gene with protein product		186745		TLN	NA	7635475, 10610730	Standard	NM_006289	NM_006289	NA	Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.6817T>G	9.37:g.35699410A>C	ENSP00000316029:p.Ser2273Ala	NA	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	37	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	a	25.0	4.590915	0.86851	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.73789	-0.78;-0.74	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.85522	0.5716	M	0.86953	2.85	0.58432	D	0.999999	P	0.47762	0.9	P	0.54759	0.76	D	0.87951	0.2723	10	0.72032	D	0.01	-6.979	16.1379	0.81502	1.0:0.0:0.0:0.0	.	2273	Q9Y490	TLN1_HUMAN	A	2273;2161	ENSP00000316029:S2273A;ENSP00000442981:S2161A	ENSP00000316029:S2273A	S	-	1	0	TLN1	35689410	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.324000	0.96373	2.221000	0.72209	0.529000	0.55759	TCA	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052353.2		-	ENST00000314888.9	Missense_Mutation	SNP	9 : 35699410 - 35699410 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	12
LRRK2	120892	broad.mit.edu	37	12	40653291	40653291	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40653291C>T	ENST00000298910.7	+	13	1486	c.1428C>T	c.(1426-1428)tcC>tcT	p.S476S	LRRK2_ENST00000343742.2_Silent_p.S476S	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	476					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GCAACACTTCCCTGGATATAA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	94	95			NA	NA	12		NA											NA				40653291		2203	4300	6503	SO:0001819	synonymous_variant			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906	120892	120892		Parkinson disease	18618	protein-coding gene	gene with protein product		609007	Parkinson disease (autosomal dominant) 8	PARK8	NA	15541308	Standard	XM_058513	NM_198578	NA	Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.1428C>T	12.37:g.40653291C>T		NA	A6NJU2|Q6ZS50|Q8NCX9	37	CCDS31774.1																																																																																			LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277179.1		+	ENST00000298910.7	Silent	SNP	12 : 40653291 - 40653291 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	538	45
FAT3	120114	broad.mit.edu	37	11	92534060	92534060	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92534060C>T	ENST00000525166.1	+	9	7453	c.7431C>T	c.(7429-7431)ccC>ccT	p.P2477P	FAT3_ENST00000298047.6_Silent_p.P2627P|FAT3_ENST00000409404.2_Silent_p.P2627P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2627	Cadherin 22.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCATAGATCCCGATGATGGAG	0.498		NA								TCGA Ovarian(4;0.039)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,3886		0,0,1943	41	40	41		7881	-8.9	1	11		41	3,8291		0,3,4144	no	coding-synonymous	FAT3	NM_001008781.2		0,3,6087	TT,TC,CC	NA	0.0362,0.0,0.0246		2627/4558	92534060	3,12177	1943	4147	6090	SO:0001819	synonymous_variant			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323	120114	120114		Cadherins / Cadherin-related	23112	protein-coding gene	gene with protein product	cadherin-related family member 10	612483	FAT tumor suppressor homolog 3 (Drosophila)		NA	11811999	Standard	NM_001008781	NM_001008781	NA	Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000525166.1:c.7431C>T	11.37:g.92534060C>T		NA	B5MDB0|Q96AU6	37																																																																																				FAT3-001	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000335363.3		+	ENST00000525166.1	Silent	SNP	11 : 92534060 - 92534060 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	109	17
ARID4A	5926	broad.mit.edu	37	14	58811415	58811415	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58811415T>G	ENST00000355431.3	+	12	1282	c.909T>G	c.(907-909)ccT>ccG	p.P303P	ARID4A_ENST00000348476.3_Silent_p.P303P|ARID4A_ENST00000395168.3_Silent_p.P303P|ARID4A_ENST00000431317.2_Silent_p.P303P	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	303					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CTTTACAGCCTGAGGAAGAAC	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	50	51			NA	NA	14		NA											NA				58811415		2203	4300	6503	SO:0001819	synonymous_variant			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219	5926	5926		-	9885	protein-coding gene	gene with protein product		180201	retinoblastoma-binding protein 1	RBBP1	NA	1857421, 8455946	Standard	NM_023001	NM_023000	NA	Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.909T>G	14.37:g.58811415T>G		NA	Q15991|Q15992|Q15993	37	CCDS9732.1																																																																																			ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276927.2		+	ENST00000355431.3	Silent	SNP	14 : 58811415 - 58811415 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	216	30
PILRA	29992	broad.mit.edu	37	7	99971341	99971341	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99971341C>A	ENST00000198536.2	+	1	274	c.62C>A	c.(61-63)cCt>cAt	p.P21H	PILRA_ENST00000453419.1_Missense_Mutation_p.P21H|PILRA_ENST00000394000.2_Missense_Mutation_p.P21H|PILRA_ENST00000350573.2_Missense_Mutation_p.P21H	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	21					interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTTCTGCAGCCTAGTGAGTAC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	62	60			NA	NA	7		NA											NA				99971341		2203	4300	6503	SO:0001583	missense			AF161080	CCDS5691.1, CCDS5692.1, CCDS47660.1	7q22.1	2013-01-11			ENSG00000085514	ENSG00000085514	29992	29992		Immunoglobulin superfamily / V-set domain containing	20396	protein-coding gene	gene with protein product		605341			NA	10660620	Standard	NM_013439	NM_178272	NA	Approved	FDF03	uc003uuo.1	Q9UKJ1	OTTHUMG00000155248	ENST00000198536.2:c.62C>A	7.37:g.99971341C>A	ENSP00000198536:p.Pro21His	NA	Q8NHI1	37	CCDS5691.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222284	0.39300	.	.	ENSG00000085514	ENST00000432297;ENST00000198536;ENST00000453419;ENST00000394000;ENST00000350573	T;T;T;T;T	0.23348	1.93;2.23;2.23;1.91;2.26	3.65	0.63	0.17693	Immunoglobulin-like (1);	1.274000	0.05643	N	0.583869	T	0.27594	0.0678	N	0.14661	0.345	0.09310	N	1	P;D;D;D;P	0.71674	0.553;0.994;0.986;0.998;0.688	B;P;P;P;B	0.61940	0.094;0.669;0.895;0.896;0.094	T	0.28490	-1.0042	9	.	.	.	.	5.8473	0.18673	0.3885:0.4221:0.1894:0.0	.	21;21;21;21;21	C9JJ79;C9JGG1;Q9UKJ1-4;Q9UKJ1-3;Q9UKJ1	.;.;.;.;PILRA_HUMAN	H	21	ENSP00000415111:P21H;ENSP00000198536:P21H;ENSP00000390026:P21H;ENSP00000377569:P21H;ENSP00000340109:P21H	.	P	+	2	0	PILRA	99809277	0.000000	0.05858	0.037000	0.18230	0.003000	0.03518	-0.635000	0.05471	0.123000	0.18342	0.313000	0.20887	CCT	PILRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339016.1		+	ENST00000198536.2	Missense_Mutation	SNP	7 : 99971341 - 99971341 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	552	98
RASA2	5922	broad.mit.edu	37	3	141291549	141291549	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141291549A>C	ENST00000286364.3	+	12	1303	c.1268A>C	c.(1267-1269)aAa>aCa	p.K423T	RASA2_ENST00000452898.1_Missense_Mutation_p.K423T			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	423	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						GTAACATTAAAACCTATTCTT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	95	96			NA	NA	3		NA											NA				141291549		2203	4300	6503	SO:0001583	missense			AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903	5922	5922		Pleckstrin homology (PH) domain containing	9872	protein-coding gene	gene with protein product		601589			NA	8699317	Standard	NM_006506	NM_006506	NA	Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000286364.3:c.1268A>C	3.37:g.141291549A>C	ENSP00000286364:p.Lys423Thr	NA	O00695|Q15284|Q92594|Q99577|Q9UEQ2	37	CCDS3117.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.583093	0.86748	.	.	ENSG00000155903	ENST00000286364;ENST00000452898;ENST00000423660	T;T	0.18960	2.18;2.18	5.76	5.76	0.90799	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	T	0.43567	0.1253	L	0.56769	1.78	0.80722	D	1	P;D;D;D	0.56746	0.867;0.977;0.972;0.977	P;D;D;D	0.69824	0.836;0.966;0.943;0.966	T	0.25363	-1.0134	10	0.56958	D	0.05	.	16.0916	0.81094	1.0:0.0:0.0:0.0	.	15;423;423;423	E7EU60;A8K7K1;G3V0F9;Q15283	.;.;.;RASA2_HUMAN	T	423;423;15	ENSP00000286364:K423T;ENSP00000391677:K423T	ENSP00000286364:K423T	K	+	2	0	RASA2	142774239	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	2.186000	0.69663	0.533000	0.62120	AAA	RASA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359711.2		+	ENST00000286364.3	Missense_Mutation	SNP	3 : 141291549 - 141291549 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	64
GRIN2A	2903	broad.mit.edu	37	16	9857412	9857412	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:9857412C>T	ENST00000396573.2	-	14	4298	c.3989G>A	c.(3988-3990)aGt>aAt	p.S1330N	GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1330N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1330N|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000404927.2_Intron	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1330					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGAGGGGACACTAAACAGGCT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	84	82			NA	NA	16		NA											NA				9857412		2197	4300	6497	SO:0001583	missense				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454	NA	2903		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4585	protein-coding gene	gene with protein product		138253		NMDAR2A	NA	9480759	Standard		XM_005255267	NA	Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3989G>A	16.37:g.9857412C>T	ENSP00000379818:p.Ser1330Asn	NA	O00669	37	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	5.754	0.323454	0.10900	.	.	ENSG00000183454	ENST00000396573;ENST00000330684;ENST00000396575	T;T;T	0.10763	2.84;2.84;2.84	5.47	5.47	0.80525	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.264128	0.48767	D	0.000168	T	0.07098	0.0180	N	0.13043	0.29	0.51233	D	0.999914	B	0.02656	0.0	B	0.10450	0.005	T	0.38650	-0.9651	9	.	.	.	.	13.692	0.62550	0.1541:0.8459:0.0:0.0	.	1330	Q12879	NMDE1_HUMAN	N	1330	ENSP00000379818:S1330N;ENSP00000332549:S1330N;ENSP00000379820:S1330N	.	S	-	2	0	GRIN2A	9764913	0.865000	0.29922	0.070000	0.20053	0.918000	0.54935	1.631000	0.37092	2.741000	0.93983	0.650000	0.86243	AGT	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251930.3		-	ENST00000396573.2	Missense_Mutation	SNP	16 : 9857412 - 9857412 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	616	125
LRRC55	219527	broad.mit.edu	37	11	56949909	56949909	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56949909G>A	ENST00000497933.1	+	1	689	c.542G>A	c.(541-543)gGg>gAg	p.G181E		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	151						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GAGGCCCATGGGCTAGTCCAC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	GLU/GLY	0,4402		0,0,2201	43	42	42		542	5	0.8	11		42	1,8591	1.2+/-3.3	0,1,4295	no	missense	LRRC55	NM_001005210.2	98	0,1,6496	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	181/342	56949909	1,12993	2201	4296	6497	SO:0001583	missense				CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908	219527	219527			32324	protein-coding gene	gene with protein product		615213			NA		Standard	NM_001005210	NM_001005210	NA	Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.542G>A	11.37:g.56949909G>A	ENSP00000419542:p.Gly181Glu	NA	A7E2U7|B2RN81	37	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.350526	0.24512	0.0	1.16E-4	ENSG00000183908	ENST00000497933	T	0.56776	0.44	5.91	4.99	0.66335	.	0.339739	0.25786	N	0.028302	T	0.37376	0.1001	N	0.21373	0.66	0.21290	N	0.999738	B	0.06786	0.001	B	0.18263	0.021	T	0.21965	-1.0230	10	0.34782	T	0.22	.	9.813	0.40835	0.0767:0.1557:0.7677:0.0	.	151	Q6ZSA7	LRC55_HUMAN	E	181	ENSP00000419542:G181E	ENSP00000419542:G181E	G	+	2	0	LRRC55	56706485	0.353000	0.24904	0.788000	0.31933	0.979000	0.70002	2.139000	0.42149	1.467000	0.48044	0.655000	0.94253	GGG	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354503.2		+	ENST00000497933.1	Missense_Mutation	SNP	11 : 56949909 - 56949909 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	307	65
SPRED2	200734	broad.mit.edu	37	2	65540906	65540906	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:65540906G>A	ENST00000356388.4	-	6	1175	c.986C>T	c.(985-987)gCg>gTg	p.A329V	SPRED2_ENST00000443619.2_Missense_Mutation_p.A326V	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	329	SPR.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						GGAGTCGGGCGCGTCCTGGCA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	80	80			NA	NA	2		NA											NA				65540906		2203	4299	6502	SO:0001583	missense			AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369	200734	200734			17722	protein-coding gene	gene with protein product		609292			NA		Standard		NM_181784	NA	Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.986C>T	2.37:g.65540906G>A	ENSP00000348753:p.Ala329Val	NA	A1L3V4|D6W5F7|Q2NKX6	37	CCDS33211.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139092	0.94560	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315;ENST00000421087	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	5.75	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.84629	0.5514	M	0.89534	3.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.88075	0.2803	10	0.87932	D	0	-13.311	14.8468	0.70267	0.0687:0.0:0.9313:0.0	.	326;329	E9PEP0;Q7Z698	.;SPRE2_HUMAN	V	329;326;344;211	ENSP00000348753:A329V;ENSP00000393697:A326V;ENSP00000390595:A344V;ENSP00000407627:A211V	ENSP00000348753:A329V	A	-	2	0	SPRED2	65394410	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	9.869000	0.99810	1.444000	0.47605	0.655000	0.94253	GCG	SPRED2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327632.1		-	ENST00000356388.4	Missense_Mutation	SNP	2 : 65540906 - 65540906 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	952	250
PKP1	5317	broad.mit.edu	37	1	201252867	201252867	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201252867G>A	ENST00000367324.3	+	1	288	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	PKP1_ENST00000263946.3_Missense_Mutation_p.E13K|PKP1_ENST00000352845.3_Missense_Mutation_p.E13K	NM_001005337.2	NP_001005337.1	Q13835	PKP1_HUMAN	plakophilin 1	13					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CTTGGCGTACGAATGCTTCCA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	67	74			NA	NA	1		NA											NA				201252867		2203	4300	6503	SO:0001583	missense			X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277	5317	5317		Armadillo repeat containing	9023	protein-coding gene	gene with protein product	ectodermal dysplasia/skin fragility syndrome	601975	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)		NA	9272178	Standard	NM_000299	NM_001005337	NA	Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000367324.3:c.37G>A	1.37:g.201252867G>A	ENSP00000356293:p.Glu13Lys	NA	O00645|Q14CA0|Q15152	37	CCDS30967.1	.	.	.	.	.	.	.	.	.	.	G	32	5.109651	0.94292	.	.	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	T;T;T	0.61742	0.08;0.08;0.08	5.01	5.01	0.66863	.	3.864160	0.01113	N	0.005600	T	0.71787	0.3381	L	0.27053	0.805	0.42555	D	0.993128	D;D	0.89917	0.999;1.0	D;D	0.75484	0.982;0.986	T	0.56768	-0.7924	10	0.66056	D	0.02	-10.1207	16.4971	0.84248	0.0:0.0:1.0:0.0	.	13;13	Q13835-2;Q13835	.;PKP1_HUMAN	K	13	ENSP00000356293:E13K;ENSP00000263946:E13K;ENSP00000295597:E13K	ENSP00000263946:E13K	E	+	1	0	PKP1	199519490	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.057000	0.71119	2.324000	0.78689	0.655000	0.94253	GAA	PKP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086894.1		+	ENST00000367324.3	Missense_Mutation	SNP	1 : 201252867 - 201252867 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	227	61
SRGAP3	9901	broad.mit.edu	37	3	9101937	9101937	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9101937T>C	ENST00000383836.3	-	6	1206	c.779A>G	c.(778-780)cAt>cGt	p.H260R	SRGAP3_ENST00000360413.3_Missense_Mutation_p.H260R|SRGAP3_ENST00000433332.3_5'UTR	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	260					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		AGAGACATCATGGATGTAGTA	0.542		NA	T	RAF1	pilocytic astrocytoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	0													197	171	180			NA	NA	3		NA											NA				9101937		2203	4300	6503	SO:0001583	missense			AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220	9901	9901		Rho GTPase activating proteins	19744	protein-coding gene	gene with protein product		606525	SLIT-ROBO Rho GTPase activating protein 2	SRGAP2	NA	12195014	Standard		NM_014850	NA	Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.779A>G	3.37:g.9101937T>C	ENSP00000373347:p.His260Arg	NA	Q8IX13|Q8IZV8	37	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.296143	0.81025	.	.	ENSG00000196220	ENST00000383836;ENST00000360413;ENST00000544908	T;T	0.13089	2.62;2.62	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.30198	0.0757	M	0.82323	2.585	0.80722	D	1	D;B;D;D	0.59357	0.985;0.232;0.978;0.963	P;B;P;B	0.50659	0.541;0.135;0.647;0.444	T	0.12243	-1.0555	10	0.42905	T	0.14	.	14.8468	0.70267	0.0:0.0:0.0:1.0	.	260;129;260;260	C7TPG7;Q9ULR4;O43295-2;O43295	.;.;.;SRGP2_HUMAN	R	260;260;140	ENSP00000373347:H260R;ENSP00000353587:H260R	ENSP00000353587:H260R	H	-	2	0	SRGAP3	9076937	1.000000	0.71417	0.970000	0.41538	0.943000	0.58893	7.810000	0.86072	1.992000	0.58205	0.377000	0.23210	CAT	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207137.3		-	ENST00000383836.3	Missense_Mutation	SNP	3 : 9101937 - 9101937 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	575	25
PCDHGA12	26025	broad.mit.edu	37	5	140811072	140811072	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140811072C>T	ENST00000252085.3	+	1	888	c.746C>T	c.(745-747)gCg>gTg	p.A249V	PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			protocadherin gamma subfamily A, 12	NA										breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGTACCGCGCGAGCGTTCCG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	55	54			NA	NA	5		NA											NA				140811072		2203	4300	6503	SO:0001583	missense			AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159	26025	26025		Cadherins / Protocadherins : Clustered	8699	other	protocadherin	fibroblast cadherin FIB3	603059	cadherin 21	CDH21	NA	10380929	Standard	NM_003735	NM_003735	NA	Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.746C>T	5.37:g.140811072C>T	ENSP00000252085:p.Ala249Val	NA		37	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	c	0.013	-1.624354	0.00820	.	.	ENSG00000253159	ENST00000252085	T	0.52295	0.67	5.09	-1.7	0.08159	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.09949	0.0244	N	0.00289	-1.7	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.001;0.002	T	0.33266	-0.9875	9	0.02654	T	1	.	5.4684	0.16656	0.1142:0.2523:0.0:0.6335	.	249;249	O60330-2;O60330	.;PCDGC_HUMAN	V	249	ENSP00000252085:A249V	ENSP00000252085:A249V	A	+	2	0	PCDHGA12	140791256	0.977000	0.34250	0.129000	0.21949	0.489000	0.33432	1.584000	0.36589	-0.416000	0.07473	-1.707000	0.00718	GCG	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251806.2		+	ENST00000252085.3	Missense_Mutation	SNP	5 : 140811072 - 140811072 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	515	26
KIF11	3832	broad.mit.edu	37	10	94373174	94373174	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:94373174C>T	ENST00000260731.3	+	8	920	c.830C>T	c.(829-831)gCt>gTt	p.A277V		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	277	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGTTCTGGAGCTGTTGATAAG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(47;212 1003 2764 4062 8431)							NA				0													72	71	72			NA	NA	10		NA											NA				94373174		2203	4300	6503	SO:0001583	missense			X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160	3832	3832		Kinesins	6388	protein-coding gene	gene with protein product		148760	kinesin-like 1	KNSL1	NA	1505978, 8548803	Standard	NM_004523	NM_004523	NA	Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.830C>T	10.37:g.94373174C>T	ENSP00000260731:p.Ala277Val	NA	A0AV49|B2RMV3|Q15716|Q5VWX0	37	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	C	34	5.395280	0.96009	.	.	ENSG00000138160	ENST00000260731	D	0.86164	-2.08	5.82	5.82	0.92795	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	D	0.92747	0.7694	L	0.58669	1.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92655	0.6136	10	0.72032	D	0.01	.	20.1092	0.97906	0.0:1.0:0.0:0.0	.	277	P52732	KIF11_HUMAN	V	277	ENSP00000260731:A277V	ENSP00000260731:A277V	A	+	2	0	KIF11	94363154	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.849000	0.69465	2.745000	0.94114	0.655000	0.94253	GCT	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049401.1		+	ENST00000260731.3	Missense_Mutation	SNP	10 : 94373174 - 94373174 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	205	36
C2CD2L	9854	broad.mit.edu	37	11	118978770	118978770	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118978770G>T	ENST00000336702.3	+	1	678	c.319G>T	c.(319-321)Gtg>Ttg	p.V107L	DPAGT1_ENST00000409993.2_5'UTR	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	107						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						GCGGGCTTGGGTGCGAGCGCT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	25	24			NA	NA	11		NA											NA				118978770		2143	4221	6364	SO:0001583	missense			AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375	9854	9854			29000	protein-coding gene	gene with protein product			transmembrane protein 24	TMEM24	NA	15289880	Standard	NM_014807	XM_005271738	NA	Approved	KIAA0285	uc001pvn.3	O14523		ENST00000336702.3:c.319G>T	11.37:g.118978770G>T	ENSP00000338885:p.Val107Leu	NA	Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	37	CCDS8413.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145253	0.77888	.	.	ENSG00000172375	ENST00000336702	T	0.24908	1.83	4.63	3.72	0.42706	.	0.372499	0.27764	N	0.017957	T	0.28732	0.0712	L	0.40543	1.245	0.80722	D	1	P;P	0.50528	0.936;0.936	P;P	0.50405	0.64;0.64	T	0.03240	-1.1057	10	0.72032	D	0.01	-5.5096	9.8818	0.41238	0.096:0.0:0.904:0.0	.	107;107	O14523;O14523-2	C2C2L_HUMAN;.	L	107	ENSP00000338885:V107L	ENSP00000338885:V107L	V	+	1	0	C2CD2L	118483980	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.226000	0.42963	1.171000	0.42768	0.563000	0.77884	GTG	C2CD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388197.2		+	ENST00000336702.3	Missense_Mutation	SNP	11 : 118978770 - 118978770 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	338	49
PEAK1	79834	broad.mit.edu	37	15	77425553	77425553	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77425553G>A	ENST00000560626.2	-	6	4346	c.3871C>T	c.(3871-3873)Cga>Tga	p.R1291*	PEAK1_ENST00000312493.4_Nonsense_Mutation_p.R1291*			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1291					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				NA						TGAAGGCTTCGGATTTTACCC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	148	148			NA	NA	15		NA											NA				77425553		1893	4110	6003	SO:0001587	stop_gained				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517	79834	79834			29431	protein-coding gene	gene with protein product		614248			NA	16879967, 20534451	Standard		NM_024776	NA	Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.3871C>T	15.37:g.77425553G>A	ENSP00000452796:p.Arg1291*	NA	Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	37	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	G	45	12.057542	0.99631	.	.	ENSG00000173517	ENST00000312493	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-2.3873	15.2561	0.73585	0.0:0.0:0.8591:0.1409	.	.	.	.	X	1291	.	ENSP00000309230:R1291X	R	-	1	2	AC087465.1	75212608	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.555000	0.60767	2.642000	0.89623	0.655000	0.94253	CGA	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419483.3		-	ENST00000560626.2	Nonsense_Mutation	SNP	15 : 77425553 - 77425553 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	788	146
UNC13B	10497	broad.mit.edu	37	9	35403836	35403836	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35403836C>T	ENST00000378495.3	+	39	4804	c.4582C>T	c.(4582-4584)Ctg>Ttg	p.L1528L	UNC13B_ENST00000378496.4_Silent_p.L1547L|UNC13B_ENST00000396787.1_Silent_p.L1559L	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1528	C2 3.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CGTGCTAGGGCTGGCTGTGAT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	85	87			NA	NA	9		NA											NA				35403836		2203	4300	6503	SO:0001819	synonymous_variant			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722	10497	10497			12566	protein-coding gene	gene with protein product		605836	unc-13-like (C. elegans)	UNC13	NA	9607201	Standard	NM_006377	NM_006377	NA	Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.4582C>T	9.37:g.35403836C>T		NA	Q5VYM8	37	CCDS6579.1																																																																																			UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052296.1		+	ENST00000378495.3	Silent	SNP	9 : 35403836 - 35403836 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	378	51
RBM47	54502	broad.mit.edu	37	4	40440179	40440179	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40440179G>A	ENST00000381793.2	-	3	1128	c.732C>T	c.(730-732)acC>acT	p.T244T	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000319592.4_Silent_p.T244T|RBM47_ENST00000514014.1_Silent_p.T206T|RBM47_ENST00000295971.7_Silent_p.T244T|RBM47_ENST00000381795.6_Silent_p.T244T			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	244						nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGATCTTCACGGTCTCCATCA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	108	116			NA	NA	4		NA											NA				40440179		2203	4300	6503	SO:0001819	synonymous_variant			AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694	54502	54502		RNA binding motif (RRM) containing	30358	protein-coding gene	gene with protein product					NA		Standard	NM_019027	NM_019027	NA	Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.732C>T	4.37:g.40440179G>A		NA	A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	37	CCDS43223.1																																																																																			RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250456.2		-	ENST00000381793.2	Silent	SNP	4 : 40440179 - 40440179 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	695	126
FOXP1	27086	broad.mit.edu	37	3	71026839	71026839	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:71026839G>A	ENST00000493089.1	-	16	2008	c.1380C>T	c.(1378-1380)aaC>aaT	p.N460N	FOXP1_ENST00000498215.1_Silent_p.N461N|FOXP1_ENST00000468577.1_Silent_p.N461N|FOXP1_ENST00000475937.1_Silent_p.N461N|FOXP1_ENST00000484350.1_Silent_p.N385N|FOXP1_ENST00000491238.1_Silent_p.N463N|FOXP1_ENST00000318789.4_Silent_p.N461N	NM_001244808.1	NP_001231737.1	Q9H334	FOXP1_HUMAN	forkhead box P1	461					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TAACTTCTGCGTTCTTATAAA	0.338		NA	T	PAX5	ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		3	3p14.1	27086	forkhead box P1		L	0								A		1,4405	2.1+/-5.4	0,1,2202	126	131	129		1383	-8.8	0.3	3		129	0,8600		0,0,4300	no	coding-synonymous	FOXP1	NM_032682.5		0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077		461/678	71026839	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861	27086	27086		Forkhead boxes	3823	protein-coding gene	gene with protein product	fork head-related protein like B, glutamine-rich factor 1, PAX5/FOXP1 fusion protein	605515			NA	8265594, 11751404	Standard	NM_032682	NM_032682	NA	Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000493089.1:c.1380C>T	3.37:g.71026839G>A		NA	A3QVP8|Q9H332|Q9H333|Q9P0R1	37	CCDS58839.1																																																																																			FOXP1-002	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352251.1		-	ENST00000493089.1	Silent	SNP	3 : 71026839 - 71026839 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	73
ACSM5	54988	broad.mit.edu	37	16	20442373	20442373	+	Missense_Mutation	SNP	C	C	T	rs113178652	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20442373C>T	ENST00000331849.4	+	9	1331	c.1184C>T	c.(1183-1185)gCg>gTg	p.A395V		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	395					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ATGGGGAAGGCGTCCCCACCC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													196	180	186			NA	NA	16		NA											NA				20442373		2203	4300	6503	SO:0001583	missense				CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549	54988	54988		Acyl-CoA synthetase family	26060	protein-coding gene	gene with protein product		614361			NA	17762044	Standard	NM_017888	NM_017888	NA	Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1184C>T	16.37:g.20442373C>T	ENSP00000327916:p.Ala395Val	NA	Q96AV1|Q96CX8|Q9NWV3	37	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582553	0.65992	.	.	ENSG00000183549	ENST00000331849	T	0.40756	1.02	4.37	4.37	0.52481	AMP-dependent synthetase/ligase (1);	0.000000	0.52532	D	0.000069	T	0.57814	0.2079	L	0.59436	1.845	0.42229	D	0.991882	D	0.89917	1.0	P	0.61397	0.888	T	0.63915	-0.6529	10	0.72032	D	0.01	-15.9681	16.0686	0.80907	0.0:1.0:0.0:0.0	.	395	Q6NUN0	ACSM5_HUMAN	V	395	ENSP00000327916:A395V	ENSP00000327916:A395V	A	+	2	0	ACSM5	20349874	0.921000	0.31238	0.901000	0.35422	0.230000	0.25150	3.621000	0.54210	2.119000	0.64992	0.650000	0.86243	GCG	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254413.1		+	ENST00000331849.4	Missense_Mutation	SNP	16 : 20442373 - 20442373 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1246	218
OR1M1	125963	broad.mit.edu	37	19	9204616	9204616	+	Silent	SNP	C	C	T	rs142350139		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9204616C>T	ENST00000429566.3	+	1	762	c.696C>T	c.(694-696)ggC>ggT	p.G232G		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTCTGCAGGCGGCAGGAAGA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0										1,4405	2.1+/-5.4	0,1,2202	138	123	128		696	-7.6	0	19	dbSNP_134	128	0,8600		0,0,4300	no	coding-synonymous	OR1M1	NM_001004456.1		0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077		232/314	9204616	1,13005	2203	4300	6503	SO:0001819	synonymous_variant				CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929	125963	125963		GPCR / Class A : Olfactory receptors	8220	protein-coding gene	gene with protein product					NA		Standard		NM_001004456	NA	Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.696C>T	19.37:g.9204616C>T		NA	B9EHA6|Q6IFJ3|Q96R91	37	CCDS32896.1																																																																																			OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448993.1		+	ENST00000429566.3	Silent	SNP	19 : 9204616 - 9204616 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	764	133
SF3B3	23450	broad.mit.edu	37	16	70589061	70589061	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70589061G>A	ENST00000302516.5	+	13	1873	c.1662G>A	c.(1660-1662)gtG>gtA	p.V554V		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	554					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AGCGACAAGTGGTGATTGCCC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													279	264	269			NA	NA	16		NA											NA				70589061		2198	4300	6498	SO:0001819	synonymous_variant			AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091	23450	23450			10770	protein-coding gene	gene with protein product		605592	splicing factor 3b, subunit 3, 130kD		NA	10490618	Standard	NM_012426	NM_012426	NA	Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.1662G>A	16.37:g.70589061G>A		NA	Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	37	CCDS10894.1																																																																																			SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268972.1		+	ENST00000302516.5	Silent	SNP	16 : 70589061 - 70589061 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	709	141
RABGAP1L	9910	broad.mit.edu	37	1	174190149	174190149	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:174190149G>A	ENST00000251507.4	+	3	352	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	RABGAP1L_ENST00000367689.3_5'UTR|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.E23K	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	60					regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	p.E60*(1)		NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						AAAAGCCATGGAAGAGATTTT	0.373		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)											141	142	142			NA	NA	1		NA											NA				174190149		2203	4300	6503	SO:0001583	missense			AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061	9910	9910			24663	protein-coding gene	gene with protein product		609238			NA	10585558	Standard	NM_001243765	NM_014857	NA	Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.178G>A	1.37:g.174190149G>A	ENSP00000251507:p.Glu60Lys	NA	O75059|Q3ZTR8|Q5R369|Q8IVV0|Q8N921|Q8WV78|Q9NSP8|Q9UQ19|Q9UQP5|Q9Y6Y5|Q9Y6Y6	37	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418065	0.83449	.	.	ENSG00000152061	ENST00000357444;ENST00000251507;ENST00000457696;ENST00000367692	T;T;T	0.54675	0.56;3.39;0.82	5.6	5.6	0.85130	.	0.050402	0.85682	D	0.000000	T	0.65048	0.2654	M	0.68593	2.085	0.80722	D	1	D;P;P	0.54601	0.967;0.945;0.948	B;P;B	0.55508	0.427;0.777;0.443	T	0.60444	-0.7262	10	0.26408	T	0.33	.	17.3758	0.87391	0.0:0.0:1.0:0.0	.	60;60;23	B7WPG6;Q5R372;Q5R372-2	.;RBG1L_HUMAN;.	K	23;60;60;60	ENSP00000350027:E23K;ENSP00000251507:E60K;ENSP00000403136:E60K	ENSP00000251507:E60K	E	+	1	0	RABGAP1L	172456772	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.641000	0.67881	2.648000	0.89879	0.591000	0.81541	GAA	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084497.1		+	ENST00000251507.4	Missense_Mutation	SNP	1 : 174190149 - 174190149 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	738	122
GTF3C1	2975	broad.mit.edu	37	16	27506672	27506672	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27506672G>A	ENST00000356183.4	-	15	2507	c.2492C>T	c.(2491-2493)aCg>aTg	p.T831M	GTF3C1_ENST00000561623.1_Missense_Mutation_p.T831M	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	831						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CTGCTTTATCGTTCTCCGTTC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	51	54			NA	NA	16		NA											NA				27506672		2197	4300	6497	SO:0001583	missense			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235	2975	2975		General transcription factors	4664	protein-coding gene	gene with protein product		603246	general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )		NA	8164661, 8127861	Standard	NM_001520	NM_001520	NA	Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.2492C>T	16.37:g.27506672G>A	ENSP00000348510:p.Thr831Met	NA	B2RP21|Q12838|Q6DKN9|Q9Y4W9	37	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142122	0.37825	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.25579	1.79	5.55	-8.25	0.01025	.	1.765350	0.02242	N	0.065889	T	0.17577	0.0422	L	0.50333	1.59	0.09310	N	1	B;B	0.22211	0.039;0.066	B;B	0.15484	0.006;0.013	T	0.24799	-1.0150	10	0.56958	D	0.05	-10.6773	0.692	0.00893	0.3206:0.1841:0.3077:0.1876	.	831;831	Q12789;Q12789-3	TF3C1_HUMAN;.	M	831;829	ENSP00000348510:T831M	ENSP00000348510:T831M	T	-	2	0	GTF3C1	27414173	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-2.124000	0.01318	-1.048000	0.03238	-0.152000	0.13540	ACG	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000433856.1		-	ENST00000356183.4	Missense_Mutation	SNP	16 : 27506672 - 27506672 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	322	45
TAOK2	9344	broad.mit.edu	37	16	29989137	29989137	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29989137T>C	ENST00000308893.4	+	2	1087	c.44T>C	c.(43-45)gTg>gCg	p.V15A	TAOK2_ENST00000279394.3_Missense_Mutation_p.V15A|TAOK2_ENST00000543033.1_Missense_Mutation_p.V15A	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	15					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GACCCAGATGTGGCTGAGCTC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	46	45			NA	NA	16		NA											NA				29989137		2197	4300	6497	SO:0001583	missense			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930	9344	9344			16835	protein-coding gene	gene with protein product		613199			NA	10048485, 9786855	Standard	NM_016151	NM_016151	NA	Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.44T>C	16.37:g.29989137T>C	ENSP00000310094:p.Val15Ala	NA	A5PKY1|A7MCZ2|B2RN35|O94957|Q6UW73|Q7LC09|Q9NSW2	37	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	T	19.83	3.900361	0.72754	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.71698	-0.59;-0.49;-0.55	5.35	5.35	0.76521	.	0.064535	0.64402	D	0.000011	T	0.66799	0.2826	L	0.34521	1.04	0.80722	D	1	P;B;B;P	0.37038	0.579;0.169;0.105;0.579	B;B;B;P	0.44811	0.361;0.241;0.121;0.461	T	0.64343	-0.6430	9	.	.	.	.	14.6093	0.68504	0.0:0.0:0.0:1.0	.	199;15;15;15	Q86V37;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;TAOK2_HUMAN	A	15	ENSP00000310094:V15A;ENSP00000440336:V15A;ENSP00000279394:V15A	.	V	+	2	0	TAOK2	29896638	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.916000	0.69981	2.155000	0.67459	0.533000	0.62120	GTG	TAOK2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255152.2		+	ENST00000308893.4	Missense_Mutation	SNP	16 : 29989137 - 29989137 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	402	78
TINF2	26277	broad.mit.edu	37	14	24710962	24710962	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24710962C>A	ENST00000559019.1	-	1	492				TINF2_ENST00000399423.4_Missense_Mutation_p.K106N|TINF2_ENST00000267415.7_Missense_Mutation_p.K106N|TINF2_ENST00000538777.1_5'UTR|TINF2_ENST00000558510.1_5'UTR|TINF2_ENST00000558566.1_Missense_Mutation_p.K106N|TINF2_ENST00000540705.1_Missense_Mutation_p.K71N			Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	NA					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		CCTCCAAAATCTTCCTCAGAT	0.493		NA							Congenital Dyskeratosis;Ataxia Pancytopenia syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	65	66			NA	NA	14		NA											NA				24710962		1904	4128	6032	SO:0001627	intron_variant	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita;Myelocerebellar disorder	AF195512	CCDS41936.1, CCDS41937.1	14q12	2008-07-29				ENSG00000092330	26277	26277			11824	protein-coding gene	gene with protein product		604319			NA	10581025, 18252230	Standard		NM_012461	NA	Approved	TIN2	uc001woa.4	Q9BSI4		ENST00000559019.1:c.192+384G>T	14.37:g.24710962C>A		NA	Q9H904|Q9UHC2	37		.	.	.	.	.	.	.	.	.	.	C	17.50	3.406045	0.62288	.	.	ENSG00000092330	ENST00000267415;ENST00000540705;ENST00000399423	T;T;T	0.45276	0.9;0.9;0.9	5.13	3.31	0.37934	.	0.255699	0.39544	N	0.001336	T	0.54334	0.1852	M	0.66939	2.045	0.80722	D	1	D;D;D	0.67145	0.996;0.993;0.993	D;P;P	0.63877	0.919;0.801;0.801	T	0.50988	-0.8762	10	0.41790	T	0.15	-9.6111	7.729	0.28775	0.0:0.8111:0.0:0.1889	.	71;106;106	B4DFJ1;Q9BSI4-2;Q9BSI4	.;.;TINF2_HUMAN	N	106;71;106	ENSP00000267415:K106N;ENSP00000442154:K71N;ENSP00000382350:K106N	ENSP00000267415:K106N	K	-	3	2	TINF2	23780802	0.980000	0.34600	0.997000	0.53966	0.767000	0.43475	0.129000	0.15830	0.743000	0.32719	0.491000	0.48974	AAG	TINF2-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000415428.1		-	ENST00000559019.1	Intron	SNP	14 : 24710962 - 24710962 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	106	23
DPEP3	64180	broad.mit.edu	37	16	68011244	68011244	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68011244C>T	ENST00000268793.4	-	7	1395	c.1022G>A	c.(1021-1023)gGc>gAc	p.G341D		NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	316					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CATCACGATGCCACCGTTCTT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	125	137			NA	NA	16		NA											NA				68011244		2198	4300	6498	SO:0001583	missense			AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	64180	64180	3.4.13.19		23029	protein-coding gene	gene with protein product		609926			NA		Standard	NM_022357	NM_022357	NA	Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.1022G>A	16.37:g.68011244C>T	ENSP00000268793:p.Gly341Asp	NA	B3KQ48|Q6PEZ5|Q6UXE4	37	CCDS10856.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522503	0.85600	.	.	ENSG00000141096	ENST00000268793	T	0.58940	0.3	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.83562	0.5281	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88955	0.3389	10	0.87932	D	0	-0.1207	16.2186	0.82243	0.0:1.0:0.0:0.0	.	316	Q9H4B8	DPEP3_HUMAN	D	341	ENSP00000268793:G341D	ENSP00000268793:G341D	G	-	2	0	DPEP3	66568745	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.945000	0.70226	2.420000	0.82092	0.655000	0.94253	GGC	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268875.3		-	ENST00000268793.4	Missense_Mutation	SNP	16 : 68011244 - 68011244 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	185	37
NACC1	112939	broad.mit.edu	37	19	13246249	13246249	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13246249G>T	ENST00000292431.4	+	2	354	c.228G>T	c.(226-228)caG>caT	p.Q76H		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	76	BTB.				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						TGCAGCCCCAGTCTTTCCAGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	35	35			NA	NA	19		NA											NA				13246249		2203	4300	6503	SO:0001583	missense			AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877	112939	112939		BEN domain containing, BTB/POZ domain containing	20967	protein-coding gene	gene with protein product	nucleus accumbens associated 1, BEN domain containing 8	610672	BTB (POZ) domain containing 14B	BTBD14B	NA	12477932	Standard	NM_052876	NM_052876	NA	Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.228G>T	19.37:g.13246249G>T	ENSP00000292431:p.Gln76His	NA		37	CCDS12294.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919900	0.52653	.	.	ENSG00000160877	ENST00000292431	T	0.67698	-0.28	5.05	4.01	0.46588	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.69895	0.3162	L	0.31207	0.915	0.42308	D	0.992207	D	0.76494	0.999	D	0.70716	0.97	T	0.70887	-0.4750	10	0.51188	T	0.08	.	11.2422	0.48977	0.0898:0.0:0.9102:0.0	.	76	Q96RE7	NACC1_HUMAN	H	76	ENSP00000292431:Q76H	ENSP00000292431:Q76H	Q	+	3	2	NACC1	13107249	1.000000	0.71417	0.999000	0.59377	0.653000	0.38743	1.681000	0.37618	1.129000	0.42072	0.650000	0.86243	CAG	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452879.1		+	ENST00000292431.4	Missense_Mutation	SNP	19 : 13246249 - 13246249 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	383	80
RHOT2	89941	broad.mit.edu	37	16	720170	720170	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:720170G>A	ENST00000315082.4	+	6	438	c.324G>A	c.(322-324)ggG>ggA	p.G108G	RHOT2_ENST00000569943.2_3'UTR	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	108	Miro 1.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CCACGCAGGGGCCCAGGTAAT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	42	41			NA	NA	16		NA											NA				720170		2195	4296	6491	SO:0001819	synonymous_variant			BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983	89941	89941		EF-hand domain containing	21169	protein-coding gene	gene with protein product	mitochondrial Rho (MIRO) GTPase 2	613889	chromosome 16 open reading frame 39, ras homolog gene family, member T2	C16orf39, ARHT2	NA	12482879	Standard	NM_138769	NM_138769	NA	Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.324G>A	16.37:g.720170G>A		NA	A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	37	CCDS10417.1																																																																																			RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000241617.1		+	ENST00000315082.4	Silent	SNP	16 : 720170 - 720170 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	346	56
EPB41L5	57669	broad.mit.edu	37	2	120903862	120903862	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120903862A>G	ENST00000263713.5	+	20	2004	c.1790A>G	c.(1789-1791)aAc>aGc	p.N597S	EPB41L5_ENST00000452780.1_Missense_Mutation_p.N597S|EPB41L5_ENST00000443902.2_Missense_Mutation_p.N597S	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	597						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						GCTGCCACAAACAGGTACAGT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	54	54			NA	NA	2		NA											NA				120903862		2203	4300	6503	SO:0001583	missense			AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109	57669	57669			19819	protein-coding gene	gene with protein product		611730			NA		Standard	NM_020909	NM_001184937	NA	Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.1790A>G	2.37:g.120903862A>G	ENSP00000263713:p.Asn597Ser	NA	Q7Z5S1|Q8IZ12|Q9H975	37	CCDS2130.1	.	.	.	.	.	.	.	.	.	.	A	7.201	0.593401	0.13875	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000452780	T;T;T	0.80738	-1.4;-1.41;-1.4	4.9	2.35	0.29111	.	0.412471	0.25132	N	0.032889	T	0.68403	0.2997	L	0.46157	1.445	0.26220	N	0.979165	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.11329	0.006;0.001;0.0	T	0.51252	-0.8729	10	0.20519	T	0.43	.	4.7015	0.12828	0.7389:0.0:0.0943:0.1668	.	597;597;597	Q9HCM4-3;Q9HCM4-4;Q9HCM4	.;.;E41L5_HUMAN	S	597	ENSP00000263713:N597S;ENSP00000393856:N597S;ENSP00000390439:N597S	ENSP00000263713:N597S	N	+	2	0	EPB41L5	120620332	0.825000	0.29262	0.974000	0.42286	0.797000	0.45037	0.573000	0.23699	0.359000	0.24239	0.397000	0.26171	AAC	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254230.2		+	ENST00000263713.5	Missense_Mutation	SNP	2 : 120903862 - 120903862 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	178	9
PTPRD	5789	broad.mit.edu	37	9	8636735	8636735	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:8636735G>A	ENST00000381196.4	-	10	717	c.174C>T	c.(172-174)aaC>aaT	p.N58N	PTPRD_ENST00000537002.1_Silent_p.N58N|PTPRD_ENST00000356435.5_Silent_p.N58N|PTPRD_ENST00000397617.3_Silent_p.N58N|PTPRD_ENST00000397606.3_Silent_p.N58N|PTPRD_ENST00000358503.5_Silent_p.N58N|PTPRD_ENST00000486161.1_Silent_p.N58N|PTPRD_ENST00000397611.3_Silent_p.N58N|PTPRD_ENST00000540109.1_Silent_p.N58N|PTPRD_ENST00000360074.4_Silent_p.N58N|PTPRD_ENST00000355233.5_Silent_p.N58N|PTPRD_ENST00000463477.1_Silent_p.N58N	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	58	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTCCTTTTTTGTTCCAGACAA	0.458		NA								TSP Lung(15;0.13)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	116	118			NA	NA	9		NA											NA				8636735		2203	4300	6503	SO:0001819	synonymous_variant			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707	5789	5789		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	9668	protein-coding gene	gene with protein product		601598			NA	7896816, 8355697	Standard		NM_002839	NA	Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.174C>T	9.37:g.8636735G>A		NA	B1ALA0	37	CCDS43786.1																																																																																			PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055395.3		-	ENST00000381196.4	Silent	SNP	9 : 8636735 - 8636735 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	681	104
EFTUD2	9343	broad.mit.edu	37	17	42957999	42957999	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42957999A>G	ENST00000426333.2	-	8	839	c.542T>C	c.(541-543)aTc>aCc	p.I181T	EFTUD2_ENST00000591382.1_Missense_Mutation_p.I181T|EFTUD2_ENST00000402521.3_Missense_Mutation_p.I146T|EFTUD2_ENST00000592576.1_Missense_Mutation_p.I171T	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	181						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				AGTGCTTTTGATGCCTACACC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(10;65 485 10258 29980 30707)							NA				0													154	145	148			NA	NA	17		NA											NA				42957999		2203	4300	6503	SO:0001583	missense			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883	9343	9343			30858	protein-coding gene	gene with protein product	U5 snRNP specific protein, 116 kD	603892			NA	9233818	Standard	NM_004247	NM_004247	NA	Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.542T>C	17.37:g.42957999A>G	ENSP00000392094:p.Ile181Thr	NA	D3DX58|Q9BUR0	37	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.196402	0.78902	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.77098	-1.07;-1.07	5.23	5.23	0.72850	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (2);	0.044203	0.85682	D	0.000000	D	0.86920	0.6049	M	0.88512	2.96	0.80722	D	1	P;P	0.35944	0.529;0.529	P;P	0.48524	0.58;0.58	D	0.88626	0.3166	10	0.66056	D	0.02	-1.4112	15.2882	0.73846	1.0:0.0:0.0:0.0	.	171;181	B4DMC0;Q15029	.;U5S1_HUMAN	T	181;171;146	ENSP00000392094:I181T;ENSP00000385873:I146T	ENSP00000262414:I171T	I	-	2	0	EFTUD2	40313525	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.777000	0.91781	2.191000	0.70037	0.482000	0.46254	ATC	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448672.1		-	ENST00000426333.2	Missense_Mutation	SNP	17 : 42957999 - 42957999 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	389	85
ITSN1	6453	broad.mit.edu	37	21	35247768	35247768	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35247768G>T	ENST00000381318.3	+	34	4572	c.4284G>T	c.(4282-4284)gaG>gaT	p.E1428D	ITSN1_ENST00000399367.3_Missense_Mutation_p.E1423D|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381285.4_Missense_Mutation_p.E1428D|ITSN1_ENST00000437442.2_Intron	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1428					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GGGAGAAGGAGAACTCTGACC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	87	90			NA	NA	21		NA											NA				35247768		2203	4300	6503	SO:0001583	missense			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726	6453	6453		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing, EF-hand domain containing	6183	protein-coding gene	gene with protein product	SH3 domain protein-1A, human intersectin-SH3 domain-containing protein SH3P17, Src homology 3 domain-containing protein, intersectin 1 short form variant, 11, intersectin 1 short form variant 3, intersectin short variant 12	602442		SH3D1A, ITSN	NA	9799604, 9813051	Standard	NM_003024	NM_003024	NA	Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.4284G>T	21.37:g.35247768G>T	ENSP00000370719:p.Glu1428Asp	NA	O95216|Q1ED40|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	37	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985555	0.74589	.	.	ENSG00000205726	ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000415023	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.59	3.79	0.43588	Dbl homology (DH) domain (2);	0.000000	0.85682	D	0.000000	T	0.41949	0.1181	L	0.61387	1.9	0.80722	D	1	P;P	0.51791	0.948;0.948	P;P	0.44990	0.466;0.466	T	0.28170	-1.0052	10	0.46703	T	0.11	.	9.1763	0.37114	0.2853:0.0:0.7147:0.0	.	1423;1428	A8CTX8;Q15811	.;ITSN1_HUMAN	D	1428;1428;1357;1423;35	ENSP00000370719:E1428D;ENSP00000370685:E1428D;ENSP00000382301:E1423D;ENSP00000409800:E35D	ENSP00000370685:E1428D	E	+	3	2	ITSN1	34169638	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.788000	0.26872	0.717000	0.32145	0.655000	0.94253	GAG	ITSN1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000140070.4		+	ENST00000381318.3	Missense_Mutation	SNP	21 : 35247768 - 35247768 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	543	106
ZNF557	79230	broad.mit.edu	37	19	7081411	7081411	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7081411G>A	ENST00000414706.1	+	6	761	c.288G>A	c.(286-288)gaG>gaA	p.E96E	ZNF557_ENST00000252840.6_Silent_p.E96E|ZNF557_ENST00000439035.2_Silent_p.E89E	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	89	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		CCCAGCTGGAGCAAGAAGATA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	63	62			NA	NA	19		NA											NA				7081411		2187	4295	6482	SO:0001819	synonymous_variant			AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544	79230	79230		Zinc fingers, C2H2-type, -	28632	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024341	NM_024341	NA	Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000414706.1:c.288G>A	19.37:g.7081411G>A		NA	Q6PEJ3|Q9BTZ1	37	CCDS42485.1																																																																																			ZNF557-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458501.1		+	ENST00000414706.1	Silent	SNP	19 : 7081411 - 7081411 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	156	37
PLXNA1	5361	broad.mit.edu	37	3	126752801	126752801	+	Missense_Mutation	SNP	C	C	T	rs149124469	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126752801C>T	ENST00000393409.2	+	31	5632	c.5632C>T	c.(5632-5634)Cgg>Tgg	p.R1878W	PLXNA1_ENST00000251772.4_Missense_Mutation_p.R1855W|PLXNA1_ENST00000505278.1_3'UTR	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1878					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GCAGGCGCGGCGGCAGCGGCT	0.657		NA											C	1	5e-04	0.002	NA	2184	NA	0.9994	,	,	NA	3e-04	NA	NA	NA	8e-04	0.6377	LOWCOV	NA	NA	4e-04	SNP								NA				0								C	TRP/ARG	2,4396		0,2,2197	24	25	25		5632	0.5	1	3	dbSNP_134	25	0,8592		0,0,4296	no	missense	PLXNA1	NM_032242.3	101	0,2,6493	TT,TC,CC	NA	0.0,0.0455,0.0154	probably-damaging	1878/1897	126752801	2,12988	2199	4296	6495	SO:0001583	missense			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554	5361	5361		Plexins	9099	protein-coding gene	gene with protein product		601055		PLXN1	NA	8570614	Standard	NM_032242	NM_032242	NA	Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.5632C>T	3.37:g.126752801C>T	ENSP00000377061:p.Arg1878Trp	NA		37	CCDS33847.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	19.11	3.764796	0.69878	4.55E-4	0.0	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.11063	2.81;2.81	4.02	0.523	0.17060	.	0.000000	0.50627	D	0.000103	T	0.23766	0.0575	M	0.68317	2.08	0.44762	D	0.997768	D;D	0.69078	0.997;0.99	P;P	0.61132	0.884;0.834	T	0.02437	-1.1159	10	0.87932	D	0	.	11.4945	0.50400	0.7252:0.2748:0.0:0.0	.	492;1878	Q6ZTY7;Q9UIW2	.;PLXA1_HUMAN	W	1878;1855	ENSP00000377061:R1878W;ENSP00000251772:R1855W	ENSP00000251772:R1855W	R	+	1	2	PLXNA1	128235491	1.000000	0.71417	0.995000	0.50966	0.736000	0.42039	1.457000	0.35212	0.287000	0.22375	0.313000	0.20887	CGG	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356451.1		+	ENST00000393409.2	Missense_Mutation	SNP	3 : 126752801 - 126752801 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	85	14
OR11L1	391189	broad.mit.edu	37	1	248005130	248005130	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248005130C>T	ENST00000355784.2	-	1	124	c.69G>A	c.(67-69)tgG>tgA	p.W23*		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCAGGGCCTGCCATTCAAGAA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	59	61			NA	NA	1		NA											NA				248005130		2203	4300	6503	SO:0001587	stop_gained			AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591	391189	391189		GPCR / Class A : Olfactory receptors	14998	protein-coding gene	gene with protein product					NA		Standard	NM_001001959	NM_001001959	NA	Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.69G>A	1.37:g.248005130C>T	ENSP00000348033:p.Trp23*	NA		37	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.381564	0.82792	.	.	ENSG00000197591	ENST00000355784	.	.	.	4.2	4.2	0.49525	.	0.000000	0.34484	U	0.003929	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	10.4167	0.44327	0.0:0.9079:0.0:0.0921	.	.	.	.	X	23	.	ENSP00000348033:W23X	W	-	3	0	OR11L1	246071753	0.000000	0.05858	0.989000	0.46669	0.767000	0.43475	-0.051000	0.11885	2.331000	0.79229	0.543000	0.68304	TGG	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096850.1		-	ENST00000355784.2	Nonsense_Mutation	SNP	1 : 248005130 - 248005130 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	286	18
ATG2B	55102	broad.mit.edu	37	14	96795031	96795031	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96795031A>C	ENST00000359933.4	-	13	2847	c.1954T>G	c.(1954-1956)Tct>Gct	p.S652A		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	652										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CTATTCTCAGAATGCTTATAA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	64	65			NA	NA	14		NA											NA				96795031		1800	4077	5877	SO:0001583	missense			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739	55102	55102			20187	protein-coding gene	gene with protein product			chromosome 14 open reading frame 103, ATG2 autophagy related 2 homolog B (S. cerevisiae)	C14orf103	NA	22350415	Standard	NM_018036	NM_018036	NA	Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.1954T>G	14.37:g.96795031A>C	ENSP00000353010:p.Ser652Ala	NA	Q6ZRE7|Q96DQ3|Q9NW80	37	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	A	15.05	2.716959	0.48622	.	.	ENSG00000066739	ENST00000359933	T	0.10005	2.92	5.84	5.84	0.93424	.	0.549872	0.16658	U	0.204891	T	0.15478	0.0373	M	0.62723	1.935	0.33735	D	0.618764	B	0.10296	0.003	B	0.06405	0.002	T	0.06752	-1.0809	10	0.30854	T	0.27	.	16.2233	0.82274	1.0:0.0:0.0:0.0	.	652	Q96BY7	ATG2B_HUMAN	A	652	ENSP00000353010:S652A	ENSP00000353010:S652A	S	-	1	0	ATG2B	95864784	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.251000	0.51453	2.243000	0.73865	0.482000	0.46254	TCT	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000314037.1		-	ENST00000359933.4	Missense_Mutation	SNP	14 : 96795031 - 96795031 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	370	53
COL7A1	1294	broad.mit.edu	37	3	48611968	48611968	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48611968T>C	ENST00000328333.8	-	78	6516	c.6409A>G	c.(6409-6411)Aaa>Gaa	p.K2137E	COL7A1_ENST00000454817.1_Missense_Mutation_p.K2105E	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2137	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGGTCTCCTTTGATGCCTGGC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	53	56			NA	NA	3		NA											NA				48611968		2203	4300	6503	SO:0001583	missense			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270	1294	1294		Collagens, Fibronectin type III domain containing	2214	protein-coding gene	gene with protein product	collagen VII, alpha-1 polypeptide, LC collagen	120120	epidermolysis bullosa, dystrophic, dominant and recessive	EBDCT, EBD1, EBR1	NA	1871109	Standard	NM_000094	NM_000094	NA	Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.6409A>G	3.37:g.48611968T>C	ENSP00000332371:p.Lys2137Glu	NA	Q14054|Q16507	37	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	T	12.62	1.991386	0.35131	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.94280	-3.39;-3.39	4.71	4.71	0.59529	.	0.000000	0.42172	D	0.000743	D	0.95258	0.8462	M	0.79258	2.445	0.29570	N	0.849991	D	0.64830	0.994	D	0.64506	0.926	D	0.90654	0.4585	10	0.10111	T	0.7	.	13.4488	0.61158	0.0:0.0:0.0:1.0	.	2137	Q02388	CO7A1_HUMAN	E	2137;2105	ENSP00000332371:K2137E;ENSP00000412569:K2105E	ENSP00000332371:K2137E	K	-	1	0	COL7A1	48586972	0.983000	0.35010	1.000000	0.80357	0.136000	0.21042	2.066000	0.41452	2.099000	0.63709	0.460000	0.39030	AAA	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257519.1		-	ENST00000328333.8	Missense_Mutation	SNP	3 : 48611968 - 48611968 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	248	50
RGS12	6002	broad.mit.edu	37	4	3432402	3432402	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3432402C>A	ENST00000382788.3	+	16	3937	c.3834C>A	c.(3832-3834)gcC>gcA	p.A1278A	RGS12_ENST00000344733.5_Silent_p.A1278A|RGS12_ENST00000336727.3_Silent_p.A1278A|RGS12_ENST00000338806.4_Silent_p.A630A|RGS12_ENST00000538395.1_3'UTR			O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1278						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGGGCTCAGCCTCCAGCCCCC	0.741		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													10	12	11			NA	NA	4		NA											NA				3432402		2181	4260	6441	SO:0001819	synonymous_variant			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788	6002	6002		Regulators of G-protein signaling	9994	protein-coding gene	gene with protein product		602512	regulator of G-protein signalling 12		NA	9651375	Standard	NM_002926	NM_198229	NA	Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000382788.3:c.3834C>A	4.37:g.3432402C>A		NA	B1AQ30|B1AQ31|B1AQ32|O14922|O14923|O43510|O75338	37	CCDS3367.1																																																																																			RGS12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206603.1		+	ENST00000382788.3	Silent	SNP	4 : 3432402 - 3432402 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	111	19
OTOP3	347741	broad.mit.edu	37	17	72937646	72937646	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72937646C>T	ENST00000328801.4	+	2	232	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	78						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					TCTGCTGCTGCGGCGGGACCG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	29	28			NA	NA	17		NA											NA				72937646		2200	4297	6497	SO:0001583	missense			BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938	347741	347741			19658	protein-coding gene	gene with protein product		607828			NA	12651873	Standard	NM_178233	NM_178233	NA	Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.232C>T	17.37:g.72937646C>T	ENSP00000328090:p.Arg78Trp	NA		37	CCDS11709.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.301549	0.60195	.	.	ENSG00000182938	ENST00000328801	T	0.10099	2.91	4.86	4.86	0.63082	.	0.227351	0.26166	N	0.025943	T	0.28995	0.0720	L	0.57536	1.79	0.41707	D	0.989438	D	0.89917	1.0	D	0.67725	0.953	T	0.02161	-1.1203	10	0.87932	D	0	-14.6963	16.1603	0.81700	0.0:1.0:0.0:0.0	.	78	Q7RTS5	OTOP3_HUMAN	W	78	ENSP00000328090:R78W	ENSP00000328090:R78W	R	+	1	2	OTOP3	70449241	0.908000	0.30866	0.997000	0.53966	0.243000	0.25628	1.560000	0.36331	2.230000	0.72887	0.462000	0.41574	CGG	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445308.1		+	ENST00000328801.4	Missense_Mutation	SNP	17 : 72937646 - 72937646 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	301	51
MMS22L	253714	broad.mit.edu	37	6	97621034	97621034	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:97621034G>A	ENST00000275053.4	-	19	3009	c.2744C>T	c.(2743-2745)tCc>tTc	p.S915F	MMS22L_ENST00000369251.2_Missense_Mutation_p.S875F	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	915					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						GTATTCCAAGGACTTTGTGAC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	63	63			NA	NA	6		NA											NA				97621034		2203	4300	6503	SO:0001583	missense				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263	253714	253714			21475	protein-coding gene	gene with protein product		615614	chromosome 6 open reading frame 167	C6orf167	NA	21055983, 21055984	Standard	NM_198468	NM_198468	NA	Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.2744C>T	6.37:g.97621034G>A	ENSP00000275053:p.Ser915Phe	NA	D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	37	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604459	0.66445	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.34072	1.52;1.38	5.43	5.43	0.79202	.	0.246767	0.41712	D	0.000838	T	0.33323	0.0859	L	0.54323	1.7	0.29392	N	0.86256	D;P	0.59767	0.986;0.911	P;P	0.51135	0.66;0.461	T	0.15263	-1.0443	10	0.66056	D	0.02	-17.6137	15.1347	0.72555	0.0:0.141:0.859:0.0	.	875;915	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	F	915;875	ENSP00000275053:S915F;ENSP00000358254:S875F	ENSP00000275053:S915F	S	-	2	0	MMS22L	97727755	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.526000	0.53509	2.693000	0.91896	0.655000	0.94253	TCC	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041573.3		-	ENST00000275053.4	Missense_Mutation	SNP	6 : 97621034 - 97621034 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	9
AP5M1	55745	broad.mit.edu	37	14	57752979	57752979	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:57752979T>G	ENST00000261558.3	+	7	1738	c.1332T>G	c.(1330-1332)tgT>tgG	p.C444W	AP5M1_ENST00000431972.2_Missense_Mutation_p.C458W	NM_018229.3	NP_060699.3	Q9H0R1	MUDEN_HUMAN	adaptor-related protein complex 5, mu 1 subunit	444	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex					NA						TTACTGGATGTTATGCAGATC	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	169	170			NA	NA	14		NA											NA				57752979		2203	4297	6500	SO:0001583	missense			AF094583	CCDS9729.1	14q22.2	2012-03-20	2012-03-20	2012-03-20	ENSG00000053770	ENSG00000053770	55745	55745			20192	protein-coding gene	gene with protein product	Mu-2 related death-inducing gene	614368	chromosome 14 open reading frame 108, MU-2/AP1M2 domain containing, death-inducing	C14orf108, MUDENG	NA	18395520	Standard	NM_018229	NM_018229	NA	Approved	FLJ10813, MuD, mu5	uc001xcv.3	Q9H0R1	OTTHUMG00000140318	ENST00000261558.3:c.1332T>G	14.37:g.57752979T>G	ENSP00000261558:p.Cys444Trp	NA	O95354|Q6ZMD7|Q96DX3|Q9NVC5	37	CCDS9729.1	.	.	.	.	.	.	.	.	.	.	T	19.56	3.851156	0.71719	.	.	ENSG00000053770	ENST00000261558;ENST00000431972	T;T	0.19394	2.15;2.15	5.65	5.65	0.86999	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.48187	0.1486	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.50709	-0.8796	10	0.72032	D	0.01	.	15.8539	0.78960	0.0:0.0:0.0:1.0	.	444	Q9H0R1	MUDEN_HUMAN	W	444;458	ENSP00000261558:C444W;ENSP00000390531:C458W	ENSP00000261558:C444W	C	+	3	2	MUDENG	56822732	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	2.850000	0.48294	2.143000	0.66587	0.477000	0.44152	TGT	AP5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276922.1		+	ENST00000261558.3	Missense_Mutation	SNP	14 : 57752979 - 57752979 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	585	94
PARP2	10038	broad.mit.edu	37	14	20825861	20825861	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20825861A>G	ENST00000250416.5	+	16	1684	c.1657A>G	c.(1657-1659)Acc>Gcc	p.T553A	PARP2_ENST00000429687.3_Missense_Mutation_p.T540A|PARP2_ENST00000527915.1_3'UTR	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	553	PARP catalytic.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		AGATGGTTATACCCTCAACTA	0.408		NA						Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	111	113			NA	NA	14		NA											NA				20825861		1882	4122	6004	SO:0001583	missense			AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484	10038	10038		Poly (ADP-ribose) polymerases	272	protein-coding gene	gene with protein product		607725	ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2, poly (ADP-ribose) polymerase family, member 2	ADPRTL2	NA	10329013, 18353725	Standard		NM_005484	NA	Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	ENST00000250416.5:c.1657A>G	14.37:g.20825861A>G	ENSP00000250416:p.Thr553Ala	NA	Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	37	CCDS41910.1	.	.	.	.	.	.	.	.	.	.	A	12.22	1.872388	0.33069	.	.	ENSG00000129484	ENST00000429687;ENST00000250416	T;T	0.04809	3.55;3.55	5.65	4.52	0.55395	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.204024	0.42420	D	0.000701	T	0.04724	0.0128	L	0.40543	1.245	0.80722	D	1	B;B	0.30511	0.028;0.282	B;B	0.24006	0.008;0.05	T	0.47355	-0.9124	10	0.29301	T	0.29	-16.6007	10.6316	0.45541	0.9247:0.0:0.0753:0.0	.	540;553	Q9UGN5-2;Q9UGN5	.;PARP2_HUMAN	A	540;553	ENSP00000392972:T540A;ENSP00000250416:T553A	ENSP00000250416:T553A	T	+	1	0	PARP2	19895701	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.408000	0.59761	1.166000	0.42689	0.533000	0.62120	ACC	PARP2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387847.2		+	ENST00000250416.5	Missense_Mutation	SNP	14 : 20825861 - 20825861 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	79
SYDE2	84144	broad.mit.edu	37	1	85647833	85647833	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85647833A>G	ENST00000341460.5	-	3	2541	c.2492T>C	c.(2491-2493)gTg>gCg	p.V831A		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	831	Rho-GAP.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CAGAAGGGGCACCATCAGTCC	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	41	42			NA	NA	1		NA											NA				85647833		1817	4077	5894	SO:0001583	missense			AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096	84144	84144			25841	protein-coding gene	gene with protein product					NA		Standard		NM_032184	NA	Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.2492T>C	1.37:g.85647833A>G	ENSP00000340594:p.Val831Ala	NA	Q5VT96|Q8NDB8|Q9H8A6	37	CCDS44169.1	.	.	.	.	.	.	.	.	.	.	A	19.73	3.882579	0.72294	.	.	ENSG00000097096	ENST00000341460	T	0.50548	0.74	5.85	5.85	0.93711	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.65585	0.2705	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.978;0.997	T	0.71646	-0.4530	10	0.87932	D	0	.	16.2343	0.82363	1.0:0.0:0.0:0.0	.	831;831	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	A	831	ENSP00000340594:V831A	ENSP00000340594:V831A	V	-	2	0	SYDE2	85420421	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.962000	0.93254	2.234000	0.73211	0.533000	0.62120	GTG	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000127989.2		-	ENST00000341460.5	Missense_Mutation	SNP	1 : 85647833 - 85647833 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	66	7
PCDH18	54510	broad.mit.edu	37	4	138442595	138442595	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:138442595G>A	ENST00000507846.1	-	5	2886	c.2333C>T	c.(2332-2334)aCc>aTc	p.T778I	PCDH18_ENST00000344876.4_Missense_Mutation_p.T999I|PCDH18_ENST00000412923.2_Missense_Mutation_p.T998I|PCDH18_ENST00000510305.1_Missense_Mutation_p.T210I|PCDH18_ENST00000511115.1_Missense_Mutation_p.T179I			Q9HCL0	PCD18_HUMAN	protocadherin 18	999					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGATGTGCTGGTATCCCCAGT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	76	80			NA	NA	4		NA											NA				138442595		2203	4300	6503	SO:0001583	missense			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184	54510	54510		Cadherins / Protocadherins : Non-clustered	14268	protein-coding gene	gene with protein product		608287			NA	10835267, 11549318	Standard	NM_019035	XM_005263070	NA	Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000507846.1:c.2333C>T	4.37:g.138442595G>A	ENSP00000425903:p.Thr778Ile	NA	A8K7K3|B7ZKT1|Q52LS2	37		.	.	.	.	.	.	.	.	.	.	G	4.669	0.124348	0.08931	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846;ENST00000510305;ENST00000511115	T;T;T;T;T	0.53640	0.7;0.7;0.61;1.54;1.53	4.97	2.2	0.27929	.	0.818812	0.10144	N	0.710525	T	0.34745	0.0908	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.16396	0.017;0.001;0.001;0.001	B;B;B;B	0.15484	0.013;0.003;0.005;0.004	T	0.26643	-1.0097	10	0.38643	T	0.18	.	5.217	0.15348	0.0705:0.1278:0.5378:0.2639	.	179;778;998;999	B4DLR6;D6RIG4;Q9HCL0-2;Q9HCL0	.;.;.;PCD18_HUMAN	I	999;998;778;210;179	ENSP00000355082:T999I;ENSP00000390688:T998I;ENSP00000425903:T778I;ENSP00000424269:T210I;ENSP00000425647:T179I	ENSP00000355082:T999I	T	-	2	0	PCDH18	138662045	0.001000	0.12720	0.019000	0.16419	0.673000	0.39480	0.586000	0.23894	0.118000	0.18165	0.655000	0.94253	ACC	PCDH18-003	NOVEL	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000364616.1		-	ENST00000507846.1	Missense_Mutation	SNP	4 : 138442595 - 138442595 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	387	73
DCDC1	341019	broad.mit.edu	37	11	30942422	30942422	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30942422G>A	ENST00000597505.1	-	23	3193	c.3194C>T	c.(3193-3195)cCt>cTt	p.P1065L	DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.P144L			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AATTGCTACAGGTTTATGCAC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	113	121			NA	NA	11		NA											NA				30942422		2202	4299	6501	SO:0001583	missense			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959	341019	341019			20625	protein-coding gene	gene with protein product		608062			NA	12820024	Standard	NM_181807	NM_181807	NA	Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.3194C>T	11.37:g.30942422G>A	ENSP00000472625:p.Pro1065Leu	NA	A6PVL6	37		.	.	.	.	.	.	.	.	.	.	G	13.95	2.390640	0.42410	.	.	ENSG00000170959	ENST00000339794	.	.	.	5.52	4.61	0.57282	.	0.110346	0.40818	N	0.001020	T	0.56366	0.1980	M	0.72479	2.2	0.36860	D	0.888351	B	0.33748	0.423	B	0.34138	0.176	T	0.63998	-0.6510	9	0.46703	T	0.11	-10.0954	11.4354	0.50064	0.0844:0.0:0.9156:0.0	.	144	Q6ZRR9	DCDC5_HUMAN	L	144	.	ENSP00000341700:P144L	P	-	2	0	DCDC5	30898998	0.740000	0.28207	0.743000	0.31040	0.024000	0.10985	0.966000	0.29331	1.343000	0.45638	0.655000	0.94253	CCT	DCDC1-010	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000463167.1		-	ENST00000597505.1	Missense_Mutation	SNP	11 : 30942422 - 30942422 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	105	7
EDF1	8721	broad.mit.edu	37	9	139756945	139756945	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139756945A>G	ENST00000371649.1	-	5	415	c.389T>C	c.(388-390)gTg>gCg	p.V130A	EDF1_ENST00000224073.1_Intron|EDF1_ENST00000371648.4_3'UTR	NM_001281297.1	NP_001268226.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	130	HTH cro/C1-type.				endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	calmodulin binding|protein binding|sequence-specific DNA binding|transcription coactivator activity			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CCTGGTTCCCACATCTAATTT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	34	35			NA	NA	9		NA											NA				139756945		876	1991	2867	SO:0001583	missense			AJ005259	CCDS7011.1, CCDS7012.1, CCDS65193.1	9q34.3	2009-11-06			ENSG00000107223	ENSG00000107223	8721	8721			3164	protein-coding gene	gene with protein product	multiprotein bridging factor-1	605107			NA	9813014, 15112053	Standard		NM_003792	NA	Approved	EDF-1	uc004cjt.1	O60869	OTTHUMG00000020948	ENST00000371649.1:c.389T>C	9.37:g.139756945A>G	ENSP00000360712:p.Val130Ala	NA	Q5T5T2|Q9UIM1	37		.	.	.	.	.	.	.	.	.	.	A	11.71	1.721286	0.30503	.	.	ENSG00000107223	ENST00000371649	.	.	.	3.78	-2.91	0.05631	.	.	.	.	.	T	0.32466	0.0830	.	.	.	0.22142	N	0.999333	.	.	.	.	.	.	T	0.36383	-0.9750	5	0.45353	T	0.12	.	4.9307	0.13916	0.3943:0.3073:0.0:0.2983	.	.	.	.	A	130	.	ENSP00000360712:V130A	V	-	2	0	EDF1	138876766	0.000000	0.05858	0.000000	0.03702	0.207000	0.24258	-0.089000	0.11180	-0.629000	0.05575	-0.444000	0.05651	GTG	EDF1-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000055145.1		-	ENST00000371649.1	Missense_Mutation	SNP	9 : 139756945 - 139756945 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	192	16
ANKRD28	23243	broad.mit.edu	37	3	15756164	15756164	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15756164C>T	ENST00000399451.2	-	9	1274		c.e9-1		ANKRD28_ENST00000383777.1_Splice_Site|ANKRD28_ENST00000497037.1_Splice_Site	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	NA						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						CATCTTTACTCTGGGGGGGGA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	60	59			NA	NA	3		NA											NA				15756164		1812	4070	5882	SO:0001630	splice_region_variant			AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560	23243	23243		Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits, Ankyrin repeat domain containing	29024	protein-coding gene	gene with protein product	phosphatase interactor targeting K protein, protein phosphatase 6 ankyrin repeat subunit A, protein phosphatase 1, regulatory subunit 65	611122			NA	9205841	Standard	NM_015199	NM_015199	NA	Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.907-1G>A	3.37:g.15756164C>T		NA	B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	37	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629505	0.67015	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7519	0.85488	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKRD28	15731168	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	5.968000	0.70413	2.446000	0.82766	0.561000	0.74099	.	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339758.1	Intron	-	ENST00000399451.2	Splice_Site	SNP	3 : 15756164 - 15756164 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	132	24
DSCAML1	57453	broad.mit.edu	37	11	117303203	117303203	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117303203T>G	ENST00000321322.6	-	30	5225	c.5224A>C	c.(5224-5226)Atc>Ctc	p.I1742L	DSCAML1_ENST00000527706.1_Missense_Mutation_p.I1472L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1682					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTCACAGGGATGGTGGCCTTG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													186	147	160			NA	NA	11		NA											NA				117303203		2201	4296	6497	SO:0001583	missense				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103	57453	57453		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	14656	protein-coding gene	gene with protein product		611782			NA	11453658	Standard	NM_020693	NM_020693	NA	Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.5224A>C	11.37:g.117303203T>G	ENSP00000315465:p.Ile1742Leu	NA	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	37	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	T	14.90	2.674435	0.47781	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.62364	0.07;0.03	5.54	5.54	0.83059	.	.	.	.	.	T	0.40522	0.1120	N	0.08118	0	0.39866	D	0.973441	B	0.06786	0.001	B	0.10450	0.005	T	0.34725	-0.9817	9	0.27785	T	0.31	.	10.5674	0.45181	0.1441:0.0:0.0:0.8559	.	1682	Q8TD84	DSCL1_HUMAN	L	1472;1742;1449	ENSP00000434335:I1472L;ENSP00000315465:I1742L	ENSP00000315465:I1742L	I	-	1	0	DSCAML1	116808413	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.692000	0.47018	2.097000	0.63578	0.482000	0.46254	ATC	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392907.2		-	ENST00000321322.6	Missense_Mutation	SNP	11 : 117303203 - 117303203 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	483	69
PCDHA9	9752	broad.mit.edu	37	5	140229786	140229786	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140229786G>A	ENST00000532602.1	+	1	2739	c.1706G>A	c.(1705-1707)cGg>cAg	p.R569Q	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.R569Q|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_031857.1	NP_114063.1			protocadherin alpha 9	NA										breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGACACCTCGGATGAGGGGC	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(55;1800 1972 14909)							NA				0													57	62	60			NA	NA	5		NA											NA				140229786		2196	4267	6463	SO:0001583	missense			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961	9752	9752		Cadherins / Protocadherins : Clustered	8675	other	complex locus constituent	KIAA0345-like 5	606315			NA	10380929	Standard	NM_031857	NM_031857	NA	Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1706G>A	5.37:g.140229786G>A	ENSP00000436042:p.Arg569Gln	NA		37	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	1.122	-0.655074	0.03480	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.63417	-0.04;-0.04	2.59	2.59	0.31030	Cadherin-like (1);	0.808617	0.09411	U	0.805753	T	0.35885	0.0947	N	0.10782	0.045	0.09310	N	0.999995	B;D	0.54601	0.008;0.967	B;B	0.31946	0.004;0.138	T	0.07102	-1.0790	10	0.27785	T	0.31	.	12.4556	0.55702	0.0:0.0:1.0:0.0	.	569;569	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	Q	569	ENSP00000436042:R569Q;ENSP00000367362:R569Q	ENSP00000367362:R569Q	R	+	2	0	PCDHA9	140209970	0.000000	0.05858	0.052000	0.19188	0.025000	0.11179	0.195000	0.17155	1.725000	0.51514	0.313000	0.20887	CGG	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372896.2		+	ENST00000532602.1	Missense_Mutation	SNP	5 : 140229786 - 140229786 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	773	133
LIPF	8513	broad.mit.edu	37	10	90429617	90429617	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90429617A>G	ENST00000394375.3	+	6	589	c.476A>G	c.(475-477)gAc>gGc	p.D159G	LIPF_ENST00000608620.1_Missense_Mutation_p.D116G|LIPF_ENST00000355843.2_Missense_Mutation_p.D126G|LIPF_ENST00000238983.4_Missense_Mutation_p.D149G	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	149					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		GCTAAATATGACCTTCCAGCC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	157	160			NA	NA	10		NA											NA				90429617		2203	4300	6503	SO:0001583	missense			X05997	CCDS7389.1, CCDS55718.1, CCDS55719.1, CCDS65896.1	10q23	2005-10-30			ENSG00000182333	ENSG00000182333	8513	8513	3.1.1.3		6622	protein-coding gene	gene with protein product		601980			NA	3304425, 9186906	Standard		NM_004190	NA	Approved	HGL, HLAL	uc010qmt.2	P07098	OTTHUMG00000018695	ENST00000394375.3:c.476A>G	10.37:g.90429617A>G	ENSP00000377900:p.Asp159Gly	NA	Q2M1P6	37	CCDS55718.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.395450	0.83011	.	.	ENSG00000182333	ENST00000394375;ENST00000238983;ENST00000355843	T;T;T	0.79940	-1.32;-1.32;-1.32	5.07	5.07	0.68467	Alpha/beta hydrolase fold-1 (1);	0.000000	0.64402	D	0.000015	D	0.94627	0.8268	H	0.99794	4.785	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.91635	0.996;0.998;0.997;0.999	D	0.96729	0.9538	10	0.87932	D	0	-31.7369	13.9526	0.64129	1.0:0.0:0.0:0.0	.	116;159;126;149	Q5VXI8;F5H1P4;Q658L8;P07098	.;.;.;LIPG_HUMAN	G	159;149;116	ENSP00000377900:D159G;ENSP00000238983:D149G;ENSP00000348101:D116G	ENSP00000238983:D149G	D	+	2	0	LIPF	90419597	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.672000	0.91181	2.110000	0.64415	0.528000	0.53228	GAC	LIPF-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000471920.1		+	ENST00000394375.3	Missense_Mutation	SNP	10 : 90429617 - 90429617 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	551	122
CSTF3	1479	broad.mit.edu	37	11	33117913	33117913	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33117913T>G	ENST00000323959.4	-	15	1453	c.1314A>C	c.(1312-1314)aaA>aaC	p.K438N	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	438					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						CTCCATATTTTTTTAGCCCCA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	69	66			NA	NA	11		NA											NA				33117913		2202	4296	6498	SO:0001583	missense			U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102	1479	1479			2485	protein-coding gene	gene with protein product		600367	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD		NA	7984242	Standard	NM_001326	XM_006718154	NA	Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.1314A>C	11.37:g.33117913T>G	ENSP00000315791:p.Lys438Asn	NA	A8K471|D3DR04|Q32P22|Q96FQ8|Q96QD6	37	CCDS7883.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.543059	0.65198	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	T	0.36878	1.23	5.91	3.7	0.42460	Tetratricopeptide-like helical (1);Suppressor of forked (1);	0.000000	0.85682	D	0.000000	T	0.61035	0.2315	M	0.90082	3.085	0.80722	D	1	P	0.51449	0.945	P	0.58331	0.837	T	0.69873	-0.5027	10	0.59425	D	0.04	.	12.8672	0.57946	0.0:0.7925:0.0:0.2075	.	438	Q12996	CSTF3_HUMAN	N	438;371	ENSP00000315791:K438N	ENSP00000315791:K438N	K	-	3	2	CSTF3	33074489	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	1.501000	0.35693	1.478000	0.48253	-0.467000	0.05162	AAA	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388801.1		-	ENST00000323959.4	Missense_Mutation	SNP	11 : 33117913 - 33117913 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	90
PSEN2	5664	broad.mit.edu	37	1	227077790	227077790	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227077790C>T	ENST00000366782.1	+	9	1441	c.941C>T	c.(940-942)gCc>gTc	p.A314V	PSEN2_ENST00000391872.2_Missense_Mutation_p.A314V|PSEN2_ENST00000366783.3_Missense_Mutation_p.A281V|PSEN2_ENST00000472139.2_Missense_Mutation_p.A137V|PSEN2_ENST00000422240.2_Missense_Mutation_p.A281V|PSEN2_ENST00000340188.4_Intron			P49810	PSN2_HUMAN	presenilin 2	281					amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				GTAGAAACTGCCCAGGAGAGA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	127	133			NA	NA	1		NA											NA				227077790		2203	4300	6503	SO:0001583	missense			BC006365	CCDS1556.1, CCDS44324.1	1q42.13	2014-09-17	2014-02-24		ENSG00000143801	ENSG00000143801	5664	5664			9509	protein-coding gene	gene with protein product		600759	Alzheimer disease 4	AD4	NA	7638621	Standard	NM_000447	NM_000447	NA	Approved	AD3L, STM2, PS2	uc009xeo.1	P49810	OTTHUMG00000037563	ENST00000366782.1:c.941C>T	1.37:g.227077790C>T	ENSP00000355746:p.Ala314Val	NA	B1AP21|Q96P32	37		.	.	.	.	.	.	.	.	.	.	C	34	5.372828	0.95923	.	.	ENSG00000143801	ENST00000366783;ENST00000422240;ENST00000460775;ENST00000366782;ENST00000391872;ENST00000472139	D;D;D;D;D;D	0.99836	-7.05;-7.05;-7.05;-7.05;-7.05;-7.05	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.99849	0.9930	M	0.89534	3.04	0.80722	D	1	P;D	0.71674	0.942;0.998	P;D	0.71414	0.855;0.973	D	0.96683	0.9505	10	0.87932	D	0	.	18.554	0.91077	0.0:1.0:0.0:0.0	.	281;281	A8K8D4;P49810	.;PSN2_HUMAN	V	281;281;108;314;314;137	ENSP00000355747:A281V;ENSP00000403737:A281V;ENSP00000427912:A108V;ENSP00000355746:A314V;ENSP00000375745:A314V;ENSP00000427806:A137V	ENSP00000355746:A314V	A	+	2	0	PSEN2	225144413	1.000000	0.71417	0.978000	0.43139	0.994000	0.84299	7.709000	0.84645	2.460000	0.83146	0.563000	0.77884	GCC	PSEN2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000091540.1		+	ENST00000366782.1	Missense_Mutation	SNP	1 : 227077790 - 227077790 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	677	105
TPX2	22974	broad.mit.edu	37	20	30371596	30371596	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30371596G>A	ENST00000340513.4	+	13	1921	c.1393G>A	c.(1393-1395)Gag>Aag	p.E465K	TPX2_ENST00000300403.6_Missense_Mutation_p.E429K			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	429					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ACCACCCACCGAGCCTATTGG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	95	93			NA	NA	20		NA											NA				30371596		2203	4300	6503	SO:0001583	missense			AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325	22974	22974			1249	protein-coding gene	gene with protein product		605917	chromosome 20 open reading frame 1, TPX2, microtubule-associated, homolog (Xenopus laevis)	C20orf2, C20orf1	NA	9207457, 10393424	Standard		NM_012112	NA	Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000340513.4:c.1393G>A	20.37:g.30371596G>A	ENSP00000341145:p.Glu465Lys	NA	Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	37		.	.	.	.	.	.	.	.	.	.	G	10.56	1.385248	0.25031	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.29142	1.58	5.7	4.75	0.60458	.	0.298342	0.34067	N	0.004294	T	0.07369	0.0186	N	0.00392	-1.555	0.23972	N	0.996307	B;B	0.16802	0.019;0.002	B;B	0.09377	0.004;0.001	T	0.29701	-1.0003	10	0.02654	T	1	-9.9915	10.8839	0.46955	0.1439:0.7129:0.1432:0.0	.	465;429	Q96RR5;Q9ULW0	.;TPX2_HUMAN	K	429;465	ENSP00000341145:E465K	ENSP00000300403:E429K	E	+	1	0	TPX2	29835257	0.371000	0.25056	1.000000	0.80357	0.922000	0.55478	0.827000	0.27421	1.406000	0.46857	-0.153000	0.13522	GAG	TPX2-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000078570.1		+	ENST00000340513.4	Missense_Mutation	SNP	20 : 30371596 - 30371596 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	550	114
TM7SF3	51768	broad.mit.edu	37	12	27152544	27152544	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:27152544C>A	ENST00000343028.4	-	3	537	c.312G>T	c.(310-312)gaG>gaT	p.E104D	TM7SF3_ENST00000542667.1_5'UTR	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	104						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					ATGTACTCTGCTCTGGTCTAA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	137	143			NA	NA	12		NA											NA				27152544		2203	4300	6503	SO:0001583	missense			AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115	51768	51768			23049	protein-coding gene	gene with protein product		605181			NA	10828615	Standard	NM_016551	NM_016551	NA	Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.312G>T	12.37:g.27152544C>A	ENSP00000342322:p.Glu104Asp	NA	B3KMZ3|Q9NUS4	37	CCDS8710.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211589	0.58452	.	.	ENSG00000064115	ENST00000343028;ENST00000512808;ENST00000545600	T	0.31510	1.49	4.41	3.45	0.39498	.	0.339974	0.32868	N	0.005544	T	0.22742	0.0549	L	0.53249	1.67	0.26920	N	0.966702	B	0.18863	0.031	B	0.10450	0.005	T	0.07121	-1.0789	10	0.18710	T	0.47	-13.2613	5.3827	0.16199	0.0:0.6159:0.1763:0.2078	.	104	Q9NS93	TM7S3_HUMAN	D	104;83;109	ENSP00000342322:E104D	ENSP00000342322:E104D	E	-	3	2	TM7SF3	27043811	0.985000	0.35326	1.000000	0.80357	0.981000	0.71138	0.065000	0.14466	2.459000	0.83118	0.655000	0.94253	GAG	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403033.1		-	ENST00000343028.4	Missense_Mutation	SNP	12 : 27152544 - 27152544 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	69
UTP15	84135	broad.mit.edu	37	5	72875701	72875701	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:72875701G>T	ENST00000296792.4	+	13	1594		c.e13-1		UTP15_ENST00000508491.1_Splice_Site|UTP15_ENST00000543251.1_Splice_Site	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	NA					rRNA processing	cytoplasm|nucleolus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		TCTCTTTTTAGATATATATCT	0.274		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	39	38			NA	NA	5		NA											NA				72875701		2195	4297	6492	SO:0001630	splice_region_variant			AL831972	CCDS34186.1, CCDS68893.1, CCDS68894.1	5q13.2	2013-01-10	2006-04-20		ENSG00000164338	ENSG00000164338	84135	84135		WD repeat domain containing	25758	protein-coding gene	gene with protein product			UTP15, U3 small nucleolar ribonucleoprotein, homolog (yeast)		NA	12477932	Standard	NM_032175	NM_032175	NA	Approved	FLJ12787, NET21, FLJ23637	uc003kcw.1	Q8TED0	OTTHUMG00000162453	ENST00000296792.4:c.1340-1G>T	5.37:g.72875701G>T		NA	Q6IA60|Q96E08|Q9H9F8	37	CCDS34186.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542509	0.85917	.	.	ENSG00000164338	ENST00000296792;ENST00000509005;ENST00000543251;ENST00000508491	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UTP15	72911457	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.333000	0.90026	2.941000	0.99782	0.655000	0.94253	.	UTP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368965.1	Intron	+	ENST00000296792.4	Splice_Site	SNP	5 : 72875701 - 72875701 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	214	38
HOOK2	29911	broad.mit.edu	37	19	12874525	12874525	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12874525C>A	ENST00000264827.5	-	20	2059	c.1889G>T	c.(1888-1890)aGg>aTg	p.R630M	HOOK2_ENST00000397668.3_Missense_Mutation_p.R632M	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	632	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CEP110.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						GAGCTGTGTCCTCAGGGAATG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	83	80			NA	NA	19		NA											NA				12874525		2194	4299	6493	SO:0001583	missense			AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21				29911	29911			19885	protein-coding gene	gene with protein product		607824	hook homolog 2 (Drosophila)		NA	9927460	Standard	NM_013312	NM_013312	NA	Approved	HK2	uc002muy.2	Q96ED9		ENST00000264827.5:c.1889G>T	19.37:g.12874525C>A	ENSP00000264827:p.Arg630Met	NA	O60562	37	CCDS42507.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599770	0.46318	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.19250	2.16;2.16	5.72	3.61	0.41365	.	0.109028	0.64402	D	0.000010	T	0.27419	0.0673	M	0.65975	2.015	0.28849	N	0.896173	P;P	0.42203	0.731;0.773	B;P	0.44518	0.323;0.452	T	0.16988	-1.0384	10	0.87932	D	0	-23.7645	10.0714	0.42335	0.0:0.8369:0.0:0.1631	.	630;632	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	M	632;630	ENSP00000380785:R632M;ENSP00000264827:R630M	ENSP00000264827:R630M	R	-	2	0	HOOK2	12735525	1.000000	0.71417	0.963000	0.40424	0.124000	0.20399	1.053000	0.30442	1.424000	0.47217	0.650000	0.86243	AGG	HOOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451009.1		-	ENST00000264827.5	Missense_Mutation	SNP	19 : 12874525 - 12874525 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	522	100
ST18	9705	broad.mit.edu	37	8	53074010	53074010	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:53074010A>C	ENST00000276480.7	-	14	2202	c.1519T>G	c.(1519-1521)Ttt>Gtt	p.F507V		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	507						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)				TGGGCATCAAAACTGGCATAA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													210	202	205			NA	NA	8		NA											NA				53074010		2203	4300	6503	SO:0001583	missense			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.1519T>G	8.37:g.53074010A>C	ENSP00000276480:p.Phe507Val	NA	Q17RY1	37	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	A	29.9	5.047112	0.93740	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.56103	0.48;0.48	5.46	5.46	0.80206	Myelin transcription factor 1 (1);	0.047656	0.85682	D	0.000000	T	0.71459	0.3342	M	0.80183	2.485	0.80722	D	1	D;D	0.56968	0.978;0.957	P;P	0.60473	0.875;0.855	T	0.75545	-0.3280	10	0.59425	D	0.04	-7.8199	15.8762	0.79166	1.0:0.0:0.0:0.0	.	507;507	E5RHS3;O60284	.;ST18_HUMAN	V	507	ENSP00000276480:F507V;ENSP00000428521:F507V	ENSP00000276480:F507V	F	-	1	0	ST18	53236563	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.678000	0.91211	2.199000	0.70637	0.456000	0.33151	TTT	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377867.1		-	ENST00000276480.7	Missense_Mutation	SNP	8 : 53074010 - 53074010 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	724	125
ZNF548	147694	broad.mit.edu	37	19	57910188	57910188	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57910188G>T	ENST00000366197.5	+	3	783	c.533G>T	c.(532-534)tGg>tTg	p.W178L	AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.W190L|AC003002.6_ENST00000596400.1_Intron|AC003002.6_ENST00000600421.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAAAGCGAGTGGAAGCCATAC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	65	64			NA	NA	19		NA											NA				57910188		2049	4211	6260	SO:0001583	missense			AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785	147694	147694		Zinc fingers, C2H2-type, -	26561	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152909	NM_152909	NA	Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.533G>T	19.37:g.57910188G>T	ENSP00000379482:p.Trp178Leu	NA	Q96M05	37	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	G	7.967	0.748220	0.15710	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.04809	3.55;3.58	2.38	1.27	0.21489	.	.	.	.	.	T	0.03695	0.0105	N	0.20986	0.625	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.39742	-0.9599	9	0.72032	D	0.01	.	6.1038	0.20061	0.0:0.0:0.6972:0.3028	.	190;178	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	L	190;178	ENSP00000337555:W190L;ENSP00000379482:W178L	ENSP00000337555:W190L	W	+	2	0	ZNF548	62602000	.	.	0.104000	0.21259	0.471000	0.32888	.	.	0.551000	0.29008	0.591000	0.81541	TGG	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465937.1		+	ENST00000366197.5	Missense_Mutation	SNP	19 : 57910188 - 57910188 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	325	33
TBC1D2	55357	broad.mit.edu	37	9	100965573	100965573	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100965573G>A	ENST00000375066.5	-	10	2359	c.2268C>T	c.(2266-2268)tcC>tcT	p.S756S	TBC1D2_ENST00000342112.5_Silent_p.S538S|TBC1D2_ENST00000375063.1_Silent_p.S296S|TBC1D2_ENST00000375064.1_Silent_p.S756S	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	756	Rab-GAP TBC.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CACTTACCTGGGATGCCGTCA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	112	117			NA	NA	9		NA											NA				100965573		2203	4300	6503	SO:0001819	synonymous_variant			AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383	55357	55357			18026	protein-coding gene	gene with protein product	prostate antigen recognized and identified by SEREX	609871			NA		Standard	NM_018421	NM_018421	NA	Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375066.5:c.2268C>T	9.37:g.100965573G>A		NA	B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	37	CCDS35080.1																																																																																			TBC1D2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053367.1		-	ENST00000375066.5	Silent	SNP	9 : 100965573 - 100965573 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	647	99
CDC42EP2	10435	broad.mit.edu	37	11	65088649	65088649	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65088649C>T	ENST00000544348.1	+	2	886	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	CDC42EP2_ENST00000533419.1_Missense_Mutation_p.R94W|CDC42EP2_ENST00000279249.2_Missense_Mutation_p.R94W			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	94					actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity			lung(1)	1						CGTGTGTGGGCGGGAGCTCCC	0.672		NA											C	89	0.04	0.05	0.02	2184	0.03	0.9792	,	,	NA	0.0281	0.05	NA	NA	0.0452	0.8197	EXOME	NA	NA	0.0018	SNP								NA				0													65	66	66			NA	NA	11		NA											NA				65088649		2201	4297	6498	SO:0001583	missense			AF098290	CCDS8099.1	11q13	2008-07-18				ENSG00000149798	10435	10435			16263	protein-coding gene	gene with protein product	CRIB-containing BOGR1 protein	606132			NA	10490598, 11035016	Standard	NM_006779	NM_006779	NA	Approved	CEP2, BORG1	uc001odl.3	O14613		ENST00000544348.1:c.280C>T	11.37:g.65088649C>T	ENSP00000442534:p.Arg94Trp	NA	B2RD85|Q9UNS0	37	CCDS8099.1	89	0.04075091575091575	24	0.04878048780487805	9	0.024861878453038673	20	0.03496503496503497	36	0.047493403693931395	C	9.404	1.078776	0.20227	.	.	ENSG00000149798	ENST00000279249;ENST00000533419;ENST00000544348	T;T;T	0.33865	1.39;1.39;1.39	5.06	3.13	0.36017	.	0.647764	0.14384	N	0.322973	T	0.07593	0.0191	L	0.44542	1.39	0.30127	N	0.805174	D	0.56746	0.977	P	0.47206	0.541	T	0.04347	-1.0958	10	0.56958	D	0.05	-23.6747	11.8157	0.52209	0.3186:0.6814:0.0:0.0	.	94	O14613	BORG1_HUMAN	W	94	ENSP00000279249:R94W;ENSP00000431660:R94W;ENSP00000442534:R94W	ENSP00000279249:R94W	R	+	1	2	CDC42EP2	64845225	0.000000	0.05858	0.091000	0.20842	0.289000	0.27227	0.349000	0.20055	0.673000	0.31224	0.467000	0.42956	CGG	CDC42EP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387258.1		+	ENST00000544348.1	Missense_Mutation	SNP	11 : 65088649 - 65088649 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	491	47
ST3GAL5	8869	broad.mit.edu	37	2	86094728	86094728	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86094728G>A	ENST00000393808.3	-	1	49	c.13C>T	c.(13-15)Cca>Tca	p.P5S	ST3GAL5_ENST00000525834.2_Intron|ST3GAL5_ENST00000377332.3_Intron|ST3GAL5_ENST00000393805.1_Intron|ST3GAL5_ENST00000484728.1_Intron	NM_001042437.1	NP_001035902.1	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	0					ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						ggggacttacgaacagaagcc	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	77	75			NA	NA	2		NA											NA				86094728		2050	4196	6246	SO:0001630	splice_region_variant			AB018356	CCDS1986.2, CCDS42705.1	2p11.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000115525	ENSG00000115525	8869	8869	2.4.99.9	Sialyltransferases	10872	protein-coding gene	gene with protein product		604402	sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase)	SIAT9	NA	9822625	Standard	NM_003896	NM_003896	NA	Approved	ST3GalV, SIATGM3S	uc002sqq.1	Q9UNP4	OTTHUMG00000130171	ENST00000393808.3:c.13+1C>T	2.37:g.86094728G>A		NA	B3KM82|D6W5L9|O94902|Q53QU1|Q6NZX4|Q6YFL1	37	CCDS42705.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.517282	0.00975	.	.	ENSG00000115525	ENST00000393808	T	0.27557	1.66	0.158	-0.317	0.12736	.	.	.	.	.	T	0.14657	0.0354	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29336	-1.0015	6	.	.	.	.	.	.	.	.	5	Q9UNP4-3	.	S	5	ENSP00000377397:P5S	.	P	-	1	0	ST3GAL5	85948239	0.004000	0.15560	0.008000	0.14137	0.008000	0.06430	-0.542000	0.06091	-1.029000	0.03317	-1.021000	0.02439	CCA	ST3GAL5-002	KNOWN	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252487.1	Missense_Mutation	-	ENST00000393808.3	Splice_Site	SNP	2 : 86094728 - 86094728 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	254	59
ZNF614	80110	broad.mit.edu	37	19	52519953	52519953	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52519953G>A	ENST00000270649.6	-	5	1442	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ATTAGATAGCGCTTCATTGTA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	107	112			NA	NA	19		NA											NA				52519953		2203	4300	6503	SO:0001583	missense			BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556	80110	80110		Zinc fingers, C2H2-type, -	24722	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_025040	NM_025040	NA	Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.898C>T	19.37:g.52519953G>A	ENSP00000270649:p.Arg300Cys	NA	Q494T8|Q8TCF4	37	CCDS12847.1	.	.	.	.	.	.	.	.	.	.	G	8.749	0.920886	0.17982	.	.	ENSG00000142556	ENST00000270649	T	0.15487	2.42	3.85	-1.13	0.09775	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14227	0.0344	L	0.39514	1.22	0.09310	N	1	D	0.62365	0.991	P	0.48654	0.585	T	0.18745	-1.0327	9	0.59425	D	0.04	.	0.7601	0.01005	0.284:0.2795:0.2808:0.1557	.	300	Q8N883	ZN614_HUMAN	C	300	ENSP00000270649:R300C	ENSP00000270649:R300C	R	-	1	0	ZNF614	57211765	0.000000	0.05858	0.074000	0.20217	0.993000	0.82548	-0.955000	0.03869	0.290000	0.22444	0.655000	0.94253	CGC	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462407.1		-	ENST00000270649.6	Missense_Mutation	SNP	19 : 52519953 - 52519953 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	659	110
CENPC	1060	broad.mit.edu	37	4	68374686	68374686	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68374686C>A	ENST00000273853.6	-	10	2000	c.1750G>T	c.(1750-1752)Gca>Tca	p.A584S		NM_001812.2	NP_001803.2			centromere protein C	NA								p.A584P(1)			NA						CCTTTAGTTGCTGTCTTCTGC	0.373		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)											169	155	160			NA	NA	4		NA											NA				68374686		1839	4092	5931	SO:0001583	missense			M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241	1060	1060			1854	protein-coding gene	gene with protein product		117141	centromere protein C 1	CENPC1	NA	7959789	Standard		XR_245245	NA	Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.1750G>T	4.37:g.68374686C>A	ENSP00000273853:p.Ala584Ser	NA		37	CCDS47063.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.684186	0.00745	.	.	ENSG00000145241	ENST00000273853	.	.	.	5.0	-3.06	0.05379	.	1.153350	0.06379	N	0.714930	T	0.18718	0.0449	L	0.33485	1.01	0.09310	N	1	B;B	0.18461	0.028;0.01	B;B	0.15052	0.009;0.012	T	0.23691	-1.0181	9	0.10111	T	0.7	0.0165	0.4049	0.00431	0.3724:0.2328:0.1404:0.2544	.	584;584	Q8IW27;Q03188	.;CENPC_HUMAN	S	584	.	ENSP00000273853:A584S	A	-	1	0	CENPC1	68057281	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-1.459000	0.02370	-0.425000	0.07371	0.650000	0.86243	GCA	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362001.2		-	ENST00000273853.6	Missense_Mutation	SNP	4 : 68374686 - 68374686 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	601	88
CCND2	894	broad.mit.edu	37	12	4385201	4385201	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4385201G>A	ENST00000261254.3	+	2	495	c.226G>A	c.(226-228)Gtc>Atc	p.V76I	RP11-264F23.3_ENST00000539135.1_RNA	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	76	Cyclin N-terminal.				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			CGAAGAAGAGGTCTTCCCTCT	0.547		NA	T	IGL@	NHL,CLL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		12	12p13	894	cyclin D2		L	0													73	74	74			NA	NA	12		NA											NA				4385201		2203	4300	6503	SO:0001583	missense			AF518005	CCDS8524.1	12p13	2008-08-04			ENSG00000118971	ENSG00000118971	894	894			1583	protein-coding gene	gene with protein product	G1/S-specific cyclin D2	123833			NA	1386335	Standard	NM_001759	NM_001759	NA	Approved		uc001qmo.3	P30279	OTTHUMG00000168123	ENST00000261254.3:c.226G>A	12.37:g.4385201G>A	ENSP00000261254:p.Val76Ile	NA	A8K531|Q13955|Q5U035	37	CCDS8524.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432156	0.83776	.	.	ENSG00000118971	ENST00000261254	T	0.18810	2.19	5.15	5.15	0.70609	Cyclin, N-terminal (2);Cyclin-like (3);	0.182655	0.47852	D	0.000210	T	0.40791	0.1131	M	0.88906	2.99	0.80722	D	1	P	0.38767	0.646	B	0.43274	0.414	T	0.49570	-0.8926	10	0.56958	D	0.05	.	17.6686	0.88210	0.0:0.0:1.0:0.0	.	76	P30279	CCND2_HUMAN	I	76	ENSP00000261254:V76I	ENSP00000261254:V76I	V	+	1	0	CCND2	4255462	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.768000	0.98965	2.423000	0.82170	0.555000	0.69702	GTC	CCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398287.1		+	ENST00000261254.3	Missense_Mutation	SNP	12 : 4385201 - 4385201 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	398	71
PDGFRB	5159	broad.mit.edu	37	5	149500528	149500528	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149500528C>A	ENST00000261799.4	-	18	2978	c.2509G>T	c.(2509-2511)Ggc>Tgc	p.G837C		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	837	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACCAGCTTGCCTTCACAGATG	0.582		NA	T	ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP	MPD, AML, CMML, CML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		5	5q31-q32	5159	platelet-derived growth factor receptor, beta polypeptide		L	0													158	134	142			NA	NA	5		NA											NA				149500528		2203	4300	6503	SO:0001583	missense			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721	5159	5159		CD molecules, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	8804	protein-coding gene	gene with protein product		173410		PDGFR	NA		Standard	NM_002609	XM_005268464	NA	Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2509G>T	5.37:g.149500528C>A	ENSP00000261799:p.Gly837Cys	NA	Q8N5L4	37	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	C	34	5.348081	0.95807	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	D	0.89617	-2.54	5.03	5.03	0.67393	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.274240	0.25025	N	0.033728	D	0.93963	0.8067	M	0.66439	2.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.94467	0.7681	10	0.87932	D	0	.	18.746	0.91792	0.0:1.0:0.0:0.0	.	837;837	A8KAM8;P09619	.;PGFRB_HUMAN	C	837;507	ENSP00000261799:G837C	ENSP00000261799:G837C	G	-	1	0	PDGFRB	149480721	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.086000	0.71352	2.504000	0.84457	0.655000	0.94253	GGC	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252332.1		-	ENST00000261799.4	Missense_Mutation	SNP	5 : 149500528 - 149500528 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	418	81
STARD6	147323	broad.mit.edu	37	18	51851233	51851233	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51851233A>G	ENST00000580990.2	-	4	340	c.120T>C	c.(118-120)taT>taC	p.Y40Y	STARD6_ENST00000581310.1_Silent_p.Y164Y|STARD6_ENST00000307844.3_Silent_p.Y164Y			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	164	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		CTAGTTTGGAATATGCTGGGT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	91	92			NA	NA	18		NA											NA				51851233		2201	4300	6501	SO:0001819	synonymous_variant			AF480305	CCDS11955.1	18q21.2	2011-09-12	2007-08-16		ENSG00000174448	ENSG00000174448	147323	147323		StAR-related lipid transfer (START) domain containing	18066	protein-coding gene	gene with protein product		607051	START domain containing 6		NA	12011452	Standard	NM_139171	NM_139171	NA	Approved		uc010xdt.2	P59095	OTTHUMG00000132702	ENST00000580990.2:c.120T>C	18.37:g.51851233A>G		NA		37																																																																																				STARD6-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000447972.2		-	ENST00000580990.2	Silent	SNP	18 : 51851233 - 51851233 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	54
DST	667	broad.mit.edu	37	6	56494123	56494123	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56494123T>G	ENST00000361203.3	-	28	3774	c.3767A>C	c.(3766-3768)gAt>gCt	p.D1256A	DST_ENST00000244364.6_Missense_Mutation_p.D930A|DST_ENST00000370788.2_Missense_Mutation_p.D1256A|DST_ENST00000370765.6_Missense_Mutation_p.D930A|DST_ENST00000370754.5_Missense_Mutation_p.D1434A|DST_ENST00000370769.4_Missense_Mutation_p.D1256A|DST_ENST00000421834.2_Missense_Mutation_p.D1256A|DST_ENST00000446842.2_Missense_Mutation_p.D930A|DST_ENST00000518935.1_Missense_Mutation_p.D930A|DST_ENST00000312431.6_Missense_Mutation_p.D1256A			Q03001	DYST_HUMAN	dystonin	1256					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCAGTCAAAATCAAGGTCCCG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													268	226	240			NA	NA	6		NA											NA				56494123		2203	4300	6503	SO:0001583	missense			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914	667	667		EF-hand domain containing	1090	protein-coding gene	gene with protein product		113810	bullous pemphigoid antigen 1, 230/240kDa	BPAG1	NA	2461961, 2276744	Standard	NM_001723	NM_001144770	NA	Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.3767A>C	6.37:g.56494123T>G	ENSP00000354508:p.Asp1256Ala	NA	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	37		.	.	.	.	.	.	.	.	.	.	T	27.8	4.868477	0.91587	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18	5.81	5.81	0.92471	.	0.000000	0.56097	D	0.000029	T	0.53562	0.1804	M	0.74258	2.255	0.30255	N	0.793703	D;D;D;D;D;D;D;D	0.89917	0.997;0.996;0.997;0.999;0.999;1.0;0.997;0.999	P;P;P;D;D;D;P;D	0.80764	0.895;0.837;0.895;0.971;0.978;0.994;0.895;0.966	T	0.60419	-0.7267	9	0.72032	D	0.01	.	16.1678	0.81782	0.0:0.0:0.0:1.0	.	1256;1256;1434;930;930;930;1256;930	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	A	930;1434;1256;1256;930;1256;1256;1256;930;1296;930;930	ENSP00000244364:D930A;ENSP00000359790:D1434A;ENSP00000359805:D1256A;ENSP00000400883:D1256A;ENSP00000393645:D930A;ENSP00000307959:D1256A;ENSP00000359824:D1256A;ENSP00000354508:D1256A;ENSP00000404924:D930A;ENSP00000431030:D1296A;ENSP00000359801:D930A;ENSP00000431003:D930A	ENSP00000244364:D930A	D	-	2	0	DST	56602082	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.218000	0.71995	0.528000	0.53228	GAT	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000041021.3		-	ENST00000361203.3	Missense_Mutation	SNP	6 : 56494123 - 56494123 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	604	100
TET2	54790	broad.mit.edu	37	4	106156867	106156867	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:106156867C>A	ENST00000513237.1	+	3	2628	c.1831C>A	c.(1831-1833)Ctt>Att	p.L611I	TET2_ENST00000380013.4_Missense_Mutation_p.L590I|TET2_ENST00000413648.2_Missense_Mutation_p.L590I|TET2_ENST00000540549.1_Missense_Mutation_p.L590I|TET2_ENST00000394764.1_Missense_Mutation_p.L590I|TET2_ENST00000305737.2_Missense_Mutation_p.L590I|TET2_ENST00000545826.1_Missense_Mutation_p.L590I			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	590	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GCCATCAATTCTTCAGTATCA	0.463		NA	Mis N, F		MDS									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0													71	72	72			NA	NA	4		NA											NA				106156867		2203	4300	6503	SO:0001583	missense			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769	54790	54790			25941	protein-coding gene	gene with protein product		612839	KIAA1546, tet oncogene family member 2	KIAA1546	NA	10997877, 12646957	Standard	NM_017628	NM_017628	NA	Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000513237.1:c.1831C>A	4.37:g.106156867C>A	ENSP00000425443:p.Leu611Ile	NA	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	37		.	.	.	.	.	.	.	.	.	.	C	12.32	1.902755	0.33628	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	T;T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08;2.08	5.59	5.59	0.84812	.	15.888400	0.00166	N	0.000011	T	0.45094	0.1325	L	0.34521	1.04	0.33163	D	0.547245	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74023	0.946;0.946;0.982	T	0.38887	-0.9640	10	0.56958	D	0.05	.	17.7861	0.88538	0.0:1.0:0.0:0.0	.	611;590;590	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	I	590;590;590;611;590;590;590;590	ENSP00000306705:L590I;ENSP00000442788:L590I;ENSP00000442867:L590I;ENSP00000425443:L611I;ENSP00000369351:L590I;ENSP00000378245:L590I;ENSP00000391448:L590I	ENSP00000265149:L590I	L	+	1	0	TET2	106376316	0.996000	0.38824	0.038000	0.18304	0.044000	0.14063	3.588000	0.53964	2.631000	0.89168	0.650000	0.86243	CTT	TET2-003	PUTATIVE	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000363308.1		+	ENST00000513237.1	Missense_Mutation	SNP	4 : 106156867 - 106156867 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	37
PGR	5241	broad.mit.edu	37	11	100999149	100999149	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:100999149G>A	ENST00000325455.5	-	1	2106	c.653C>T	c.(652-654)gCg>gTg	p.A218V	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.A218V	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	218	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	AACCTCCACCGCAGCGGCCTG	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(124;2271 2354 21954 22882)							NA				0													10	13	12			NA	NA	11		NA											NA				100999149		2147	4241	6388	SO:0001583	missense			M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175	5241	5241		Nuclear hormone receptors	8910	protein-coding gene	gene with protein product		607311			NA		Standard		NM_000926	NA	Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.653C>T	11.37:g.100999149G>A	ENSP00000325120:p.Ala218Val	NA	A7X8B0|Q9UPF7	37	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	G	1.375	-0.585081	0.03827	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.08008	3.14;3.14	3.72	-5.21	0.02815	.	2.543820	0.01540	N	0.019191	T	0.03827	0.0108	N	0.17723	0.515	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.33445	-0.9868	10	0.02654	T	1	.	2.2323	0.04000	0.4059:0.1211:0.3515:0.1215	.	218;218	Q8TDS3;P06401	.;PRGR_HUMAN	V	218	ENSP00000325120:A218V;ENSP00000263463:A218V	ENSP00000263463:A218V	A	-	2	0	PGR	100504359	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.615000	0.05597	-0.747000	0.04759	-0.258000	0.10820	GCG	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394934.1		-	ENST00000325455.5	Missense_Mutation	SNP	11 : 100999149 - 100999149 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	207	40
PCDHB15	56121	broad.mit.edu	37	5	140625193	140625193	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140625193T>C	ENST00000231173.3	+	1	47	c.47T>C	c.(46-48)aTt>aCt	p.I16T		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	16					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAGTCCTGATTCTCCTTCTT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	73	71			NA	NA	5		NA											NA				140625193		2203	4300	6503	SO:0001583	missense			AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248	56121	56121		Cadherins / Protocadherins : Clustered	8686	other	protocadherin		606341			NA	10380929	Standard	NM_018935	NM_018935	NA	Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.47T>C	5.37:g.140625193T>C	ENSP00000231173:p.Ile16Thr	NA	Q8IUX5	37	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	T	9.688	1.151235	0.21371	.	.	ENSG00000113248	ENST00000231173	T	0.49720	0.77	4.6	4.6	0.57074	.	.	.	.	.	T	0.48677	0.1513	M	0.68728	2.09	0.25000	N	0.991476	B	0.10296	0.003	B	0.09377	0.004	T	0.46359	-0.9197	9	0.59425	D	0.04	.	13.643	0.62263	0.0:0.0:0.0:1.0	.	16	Q9Y5E8	PCDBF_HUMAN	T	16	ENSP00000231173:I16T	ENSP00000231173:I16T	I	+	2	0	PCDHB15	140605377	0.000000	0.05858	0.988000	0.46212	0.534000	0.34807	0.286000	0.18902	2.022000	0.59522	0.402000	0.26972	ATT	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251804.2		+	ENST00000231173.3	Missense_Mutation	SNP	5 : 140625193 - 140625193 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	89
AIMP1	9255	broad.mit.edu	37	4	107249377	107249377	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:107249377C>T	ENST00000394701.4	+	4	481	c.440C>T	c.(439-441)gCg>gTg	p.A147V	AIMP1_ENST00000442366.1_Missense_Mutation_p.A123V|AIMP1_ENST00000358008.3_Missense_Mutation_p.A123V	NM_001142416.1	NP_001135888.1	Q12904	AIMP1_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1	123	Interaction with HSP90B1 (By similarity).|Required for endothelial cell migration.				angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation	aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle	cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding			breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						GAAAAGAAAGCGAAAGAGAAA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	48	48			NA	NA	4		NA											NA				107249377		2202	4300	6502	SO:0001583	missense			U10117	CCDS3674.1, CCDS47121.1	4q24	2009-05-20	2009-05-20	2009-05-20	ENSG00000164022	ENSG00000164022	9255	9255			10648	protein-coding gene	gene with protein product	EMAP II, ARS-interacting multifunctional protein 1	603605	small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating)	SCYE1	NA	7929199, 7545917	Standard	NM_004757	NM_004757	NA	Approved	EMAPII, EMAP-2, p43	uc011cfg.2	Q12904	OTTHUMG00000131217	ENST00000394701.4:c.440C>T	4.37:g.107249377C>T	ENSP00000378191:p.Ala147Val	NA	B3KTR2|B4E1S7|Q6FG28|Q96CQ9	37	CCDS47121.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749678	0.30955	.	.	ENSG00000164022	ENST00000510207;ENST00000442366;ENST00000432345;ENST00000358008;ENST00000394701	T;T;T;T	0.24723	1.99;1.84;1.84;1.84	5.07	-1.73	0.08081	.	1.072360	0.07135	N	0.846376	T	0.08891	0.0220	N	0.03281	-0.365	0.23056	N	0.998362	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.29397	-1.0013	10	0.35671	T	0.21	-16.5534	0.4856	0.00555	0.3365:0.2794:0.1302:0.2539	.	123;123	B4DNK3;Q12904	.;AIMP1_HUMAN	V	123;123;123;123;147	ENSP00000423681:A123V;ENSP00000405248:A123V;ENSP00000350699:A123V;ENSP00000378191:A147V	ENSP00000350699:A123V	A	+	2	0	AIMP1	107468826	0.879000	0.30193	0.880000	0.34516	0.577000	0.36160	0.166000	0.16583	0.001000	0.14605	0.655000	0.94253	GCG	AIMP1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253960.2		+	ENST00000394701.4	Missense_Mutation	SNP	4 : 107249377 - 107249377 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	152	10
PYHIN1	149628	broad.mit.edu	37	1	158913768	158913768	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158913768G>T	ENST00000368140.1	+	6	1436	c.1191G>T	c.(1189-1191)caG>caT	p.Q397H	PYHIN1_ENST00000392252.3_Splice_Site_p.Q388H|PYHIN1_ENST00000392254.2_Splice_Site_p.Q397H|PYHIN1_ENST00000368138.3_Splice_Site_p.Q388H|PYHIN1_ENST00000485134.1_3'UTR	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	397	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GTTTCATCCAGGTGAGAAATA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	52	52			NA	NA	1		NA											NA				158913768		2203	4299	6502	SO:0001630	splice_region_variant			AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564	149628	149628			28894	protein-coding gene	gene with protein product		612677			NA	15122330	Standard	NM_152501	NM_152501	NA	Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.1191+1G>T	1.37:g.158913768G>T		NA	Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	37	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369596	0.42003	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	3.04	3.04	0.35103	HIN-200/IF120x (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.31918	0.0812	L	0.61218	1.895	0.40710	D	0.982568	D;D;D;D	0.65815	0.995;0.991;0.995;0.992	D;P;P;P	0.64506	0.926;0.892;0.859;0.782	T	0.12243	-1.0555	9	0.87932	D	0	.	9.6522	0.39904	0.0:0.0:1.0:0.0	.	388;397;388;397	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	H	397;388;397;388	ENSP00000357122:Q397H;ENSP00000357120:Q388H;ENSP00000376083:Q397H;ENSP00000376082:Q388H	ENSP00000357120:Q388H	Q	+	3	2	PYHIN1	157180392	1.000000	0.71417	0.097000	0.21041	0.107000	0.19398	3.661000	0.54503	1.675000	0.50919	0.591000	0.81541	CAG	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090110.1	Missense_Mutation	+	ENST00000368140.1	Splice_Site	SNP	1 : 158913768 - 158913768 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	327	90
CDADC1	81602	broad.mit.edu	37	13	49841720	49841720	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49841720A>C	ENST00000251108.6	+	5	638	c.525A>C	c.(523-525)aaA>aaC	p.K175N	CDADC1_ENST00000444959.1_5'UTR	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	175							hydrolase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		TAGATGCCAAAGCAGTGGAAA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	108	110			NA	NA	13		NA											NA				49841720		2203	4300	6503	SO:0001583	missense			AY027525	CCDS9415.1	13q14.11	2008-02-05			ENSG00000102543	ENSG00000102543	81602	81602			20299	protein-coding gene	gene with protein product					NA		Standard	NM_030911	NM_001193478	NA	Approved	NYD-SP15	uc001vcu.3	Q9BWV3	OTTHUMG00000016913	ENST00000251108.6:c.525A>C	13.37:g.49841720A>C	ENSP00000251108:p.Lys175Asn	NA	Q49A08|Q4G119|Q5TAW9|Q7Z764|Q9NT36	37	CCDS9415.1	.	.	.	.	.	.	.	.	.	.	A	18.65	3.670556	0.67814	.	.	ENSG00000102543	ENST00000251108	.	.	.	5.53	5.53	0.82687	Cytidine deaminase-like (1);	0.222920	0.49305	D	0.000154	T	0.60728	0.2291	N	0.24115	0.695	0.80722	D	1	D;D	0.65815	0.995;0.995	P;P	0.59487	0.858;0.798	T	0.65990	-0.6034	9	0.87932	D	0	-24.7287	15.1388	0.72595	1.0:0.0:0.0:0.0	.	175;175	Q9BWV3;B2R742	CDAC1_HUMAN;.	N	175	.	ENSP00000251108:K175N	K	+	3	2	CDADC1	48739721	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.576000	0.46033	2.219000	0.72066	0.533000	0.62120	AAA	CDADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044902.2		+	ENST00000251108.6	Missense_Mutation	SNP	13 : 49841720 - 49841720 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	399	46
DDX59	83479	broad.mit.edu	37	1	200635738	200635738	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200635738G>T	ENST00000447706.2	-	2	282	c.131C>A	c.(130-132)gCt>gAt	p.A44D	DDX59_ENST00000367348.3_Missense_Mutation_p.A44D|DDX59_ENST00000331314.6_Missense_Mutation_p.A44D			Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	44						intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						TGTAGCTACAGCATCAACGGG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	156	162			NA	NA	1		NA											NA				200635738		2203	4300	6503	SO:0001583	missense			BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197	83479	83479		Zinc fingers, HIT-type, DEAD-boxes	25360	protein-coding gene	gene with protein product		615464			NA		Standard	NM_001031725.4	NM_001031725	NA	Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000447706.2:c.131C>A	1.37:g.200635738G>T	ENSP00000394367:p.Ala44Asp	NA	Q6PJL2|Q8IVW3|Q9H0W3	37		.	.	.	.	.	.	.	.	.	.	G	3.578	-0.086218	0.07097	.	.	ENSG00000118197	ENST00000447706;ENST00000367348;ENST00000331314;ENST00000436897	T;T;T;T	0.45668	1.49;1.49;1.86;0.89	4.95	3.05	0.35203	.	0.565466	0.16340	N	0.218736	T	0.27629	0.0679	L	0.43152	1.355	0.09310	N	1	P;B	0.35077	0.483;0.22	B;B	0.27887	0.084;0.058	T	0.10989	-1.0606	10	0.21540	T	0.41	-0.1895	6.7808	0.23643	0.0857:0.0:0.5331:0.3812	.	44;44	B7Z5N6;Q5T1V6	.;DDX59_HUMAN	D	44	ENSP00000394367:A44D;ENSP00000356317:A44D;ENSP00000330460:A44D;ENSP00000391312:A44D	ENSP00000330460:A44D	A	-	2	0	DDX59	198902361	0.002000	0.14202	0.001000	0.08648	0.011000	0.07611	0.328000	0.19681	0.494000	0.27859	0.555000	0.69702	GCT	DDX59-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000086882.3		-	ENST00000447706.2	Missense_Mutation	SNP	1 : 200635738 - 200635738 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	669	111
SETD2	29072	broad.mit.edu	37	3	47164118	47164118	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47164118C>T	ENST00000409792.3	-	3	2050	c.2008G>A	c.(2008-2010)Gaa>Aaa	p.E670K		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	670					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATATTTAATTCTATGGGACAA	0.323		NA	N, F, S, Mis		clear cell renal carcinoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0								C	LYS/GLU	0,4406		0,0,2203	58	62	60		2008	5.4	1	3		60	1,8597	1.2+/-3.3	0,1,4298	no	missense	SETD2	NM_014159.6	56	0,1,6501	TT,TC,CC	NA	0.0116,0.0,0.0077	possibly-damaging	670/2565	47164118	1,13003	2203	4299	6502	SO:0001583	missense			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555	29072	29072		Chromatin-modifying enzymes / K-methyltransferases	18420	protein-coding gene	gene with protein product		612778			NA	16118227, 11461154	Standard	NM_014159	NM_014159	NA	Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.2008G>A	3.37:g.47164118C>T	ENSP00000386759:p.Glu670Lys	NA	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403533	0.62288	0.0	1.16E-4	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.89681	-2.55;1.29	5.44	5.44	0.79542	.	0.000000	0.56097	D	0.000025	T	0.80706	0.4674	N	0.24115	0.695	0.37608	D	0.92084	P;P	0.43750	0.816;0.603	B;B	0.36766	0.232;0.232	D	0.85269	0.1055	10	0.87932	D	0	.	12.7337	0.57212	0.0:0.9255:0.0:0.0744	.	670;670	F2Z317;Q9BYW2	.;SETD2_HUMAN	K	670;670;670;626	ENSP00000386759:E670K;ENSP00000416401:E626K	ENSP00000386759:E670K	E	-	1	0	SETD2	47139122	0.997000	0.39634	0.998000	0.56505	0.987000	0.75469	3.635000	0.54309	2.828000	0.97474	0.655000	0.94253	GAA	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257479.2		-	ENST00000409792.3	Missense_Mutation	SNP	3 : 47164118 - 47164118 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	387	17
UBAP2	55833	broad.mit.edu	37	9	33922776	33922776	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33922776C>T	ENST00000379238.1	-	28	3290	c.3173G>A	c.(3172-3174)gGc>gAc	p.G1058D	UBAP2_ENST00000449054.1_Missense_Mutation_p.G1058D|UBAP2_ENST00000360802.1_Missense_Mutation_p.G1058D|UBAP2_ENST00000379235.1_Missense_Mutation_p.G297D|UBAP2_ENST00000379239.4_Missense_Mutation_p.G791D|UBAP2_ENST00000539807.1_Missense_Mutation_p.G813D			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	1058										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GGGTGCATAGCCAGGGGCCGC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	67	64			NA	NA	9		NA											NA				33922776		2203	4300	6503	SO:0001583	missense			AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073	55833	55833			14185	protein-coding gene	gene with protein product					NA	8871400	Standard	NM_018449	NM_018449	NA	Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.3173G>A	9.37:g.33922776C>T	ENSP00000368540:p.Gly1058Asp	NA	Q2M2R4|Q6PK34|Q8NC94|Q9P237	37	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457153	0.43634	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379235;ENST00000379239;ENST00000539807;ENST00000351580	T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43	5.65	4.74	0.60224	.	0.043360	0.85682	D	0.000000	T	0.57577	0.2063	M	0.81802	2.56	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.998	D;D;D;P	0.69142	0.962;0.962;0.948;0.889	T	0.65619	-0.6124	10	0.87932	D	0	-17.2814	16.0953	0.81117	0.1349:0.8651:0.0:0.0	.	813;791;967;1058	F5H2U4;A6NCA8;F5H2C8;Q5T6F2	.;.;.;UBAP2_HUMAN	D	1058;1058;1058;967;297;791;813;492	ENSP00000368540:G1058D;ENSP00000416932:G1058D;ENSP00000354039:G1058D;ENSP00000368537:G297D;ENSP00000368541:G791D;ENSP00000439329:G813D	ENSP00000259602:G492D	G	-	2	0	UBAP2	33912776	1.000000	0.71417	0.996000	0.52242	0.489000	0.33432	5.587000	0.67510	1.607000	0.50170	-0.181000	0.13052	GGC	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000001071.1		-	ENST00000379238.1	Missense_Mutation	SNP	9 : 33922776 - 33922776 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	405	77
TRAK2	66008	broad.mit.edu	37	2	202272137	202272137	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202272137A>T	ENST00000332624.3	-	3	703	c.275T>A	c.(274-276)tTc>tAc	p.F92Y	TRAK2_ENST00000430254.1_Missense_Mutation_p.F92Y	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	92						early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						CATGTAACGGAAAGTCTCTTC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	59	62			NA	NA	2		NA											NA				202272137		2203	4300	6503	SO:0001583	missense			AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993	66008	66008			13206	protein-coding gene	gene with protein product	gamma-aminobutyric acid(A) receptor-interacting factor, milton homolog 2 (Drosophila), O-linked N-acetylglucosamine transferase interacting protein 98	607334	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3	ALS2CR3	NA	11161814, 16380713, 20230862	Standard	NM_015049	NM_015049	NA	Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.275T>A	2.37:g.202272137A>T	ENSP00000328875:p.Phe92Tyr	NA	Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	37	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.803037	0.90623	.	.	ENSG00000115993	ENST00000332624;ENST00000430254	T;T	0.18174	2.23;2.23	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.36524	0.0970	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.81914	0.987;0.995	T	0.08472	-1.0720	10	0.72032	D	0.01	.	15.2183	0.73288	1.0:0.0:0.0:0.0	.	92;92	E7EV21;O60296	.;TRAK2_HUMAN	Y	92	ENSP00000328875:F92Y;ENSP00000409333:F92Y	ENSP00000328875:F92Y	F	-	2	0	TRAK2	201980382	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	8.194000	0.89721	2.180000	0.69256	0.460000	0.39030	TTC	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256284.3		-	ENST00000332624.3	Missense_Mutation	SNP	2 : 202272137 - 202272137 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	205	56
LIMD1	8994	broad.mit.edu	37	3	45637385	45637385	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45637385G>T	ENST00000440097.1	+	1	1570	c.1014G>T	c.(1012-1014)caG>caT	p.Q338H	LIMD1_ENST00000273317.4_Missense_Mutation_p.Q338H|LIMD1_ENST00000465039.1_Intron			Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	338					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CCTGGTTCCAGGATGGGCCCA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	86	85			NA	NA	3		NA											NA				45637385		2203	4300	6503	SO:0001583	missense			AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791	8994	8994			6612	protein-coding gene	gene with protein product		604543			NA	10647888	Standard	NM_014240	NM_014240	NA	Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000440097.1:c.1014G>T	3.37:g.45637385G>T	ENSP00000394537:p.Gln338His	NA	Q17RQ1|Q9BQQ9|Q9NQ47	37		.	.	.	.	.	.	.	.	.	.	G	8.806	0.933986	0.18206	.	.	ENSG00000144791	ENST00000440097;ENST00000273317	T;T	0.58940	0.3;0.5	4.73	-1.52	0.08637	.	1.897850	0.02198	N	0.062043	T	0.39200	0.1069	N	0.19112	0.55	0.19300	N	0.999977	B	0.02656	0.0	B	0.01281	0.0	T	0.14117	-1.0484	10	0.38643	T	0.18	.	2.7735	0.05341	0.2436:0.114:0.5113:0.1311	.	338	Q9UGP4	LIMD1_HUMAN	H	338	ENSP00000394537:Q338H;ENSP00000273317:Q338H	ENSP00000273317:Q338H	Q	+	3	2	LIMD1	45612389	0.008000	0.16893	0.753000	0.31225	0.579000	0.36224	-0.313000	0.08103	-0.172000	0.10779	-0.150000	0.13652	CAG	LIMD1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000345079.1		+	ENST00000440097.1	Missense_Mutation	SNP	3 : 45637385 - 45637385 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	545	88
DEFA4	1669	broad.mit.edu	37	8	6794269	6794269	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6794269G>T	ENST00000297435.2	-	2	277	c.153C>A	c.(151-153)agC>agA	p.S51R		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	51					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GAAGAGCAGAGCTTTTATCCC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	90	91			NA	NA	8		NA											NA				6794269		2203	4300	6503	SO:0001583	missense			X65977	CCDS5961.1	8p23.1	2007-02-20			ENSG00000164821	ENSG00000164821	1669	1669		Defensins, alpha	2763	protein-coding gene	gene with protein product		601157		DEF4	NA	8469233	Standard	NM_001925	NM_001925	NA	Approved	HP-4	uc003wqu.1	P12838	OTTHUMG00000090382	ENST00000297435.2:c.153C>A	8.37:g.6794269G>T	ENSP00000297435:p.Ser51Arg	NA		37	CCDS5961.1	.	.	.	.	.	.	.	.	.	.	.	0.745	-0.775024	0.02951	.	.	ENSG00000164821	ENST00000297435	T	0.32988	1.43	1.66	1.66	0.24008	Defensin propeptide (1);	0.817561	0.09937	N	0.736416	T	0.15392	0.0371	.	.	.	0.09310	N	1	P	0.39809	0.689	B	0.37091	0.241	T	0.09530	-1.0670	9	0.12103	T	0.63	.	6.8453	0.23984	0.0:0.0:1.0:0.0	.	51	P12838	DEF4_HUMAN	R	51	ENSP00000297435:S51R	ENSP00000297435:S51R	S	-	3	2	DEFA4	6781679	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-0.162000	0.10012	1.231000	0.43661	0.558000	0.71614	AGC	DEFA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206754.1		-	ENST00000297435.2	Missense_Mutation	SNP	8 : 6794269 - 6794269 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	528	93
DDX47	51202	broad.mit.edu	37	12	12974144	12974144	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12974144C>T	ENST00000358007.3	+	3	206	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C	DDX47_ENST00000392155.2_3'UTR|DDX47_ENST00000352940.4_Missense_Mutation_p.R62C	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	62	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TCTTTTAGGTCGTGATATCAT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	67	68			NA	NA	12		NA											NA				12974144		2203	4300	6503	SO:0001583	missense			AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782	51202	51202		DEAD-boxes	18682	protein-coding gene	gene with protein product		615428			NA		Standard	NM_016355	NM_016355	NA	Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.184C>T	12.37:g.12974144C>T	ENSP00000350698:p.Arg62Cys	NA	B3KXP4|Q96GM0|Q96NV8	37	CCDS8655.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.821218	0.71028	.	.	ENSG00000213782	ENST00000352940;ENST00000358007	T;T	0.16743	2.32;2.32	5.6	4.69	0.59074	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.062472	0.64402	D	0.000009	T	0.41858	0.1177	M	0.76574	2.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;P	0.72338	0.977;0.977;0.911;0.887	T	0.41448	-0.9508	10	0.87932	D	0	-5.6338	14.3519	0.66708	0.2828:0.7172:0.0:0.0	.	62;62;62;62	B4DYP6;Q9H4E3;G5E955;Q9H0S4	.;.;.;DDX47_HUMAN	C	62	ENSP00000319578:R62C;ENSP00000350698:R62C	ENSP00000319578:R62C	R	+	1	0	DDX47	12865411	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.246000	0.51414	1.327000	0.45338	0.555000	0.69702	CGT	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400674.1		+	ENST00000358007.3	Missense_Mutation	SNP	12 : 12974144 - 12974144 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	519	86
NRD1	4898	broad.mit.edu	37	1	52302111	52302111	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52302111C>A	ENST00000354831.7	-	4	954		c.e4-1		NRD1_ENST00000352171.7_Intron|NRD1_ENST00000544028.1_Intron|NRD1_ENST00000485608.1_Splice_Site|NRD1_ENST00000539524.1_Splice_Site	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	NA					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AGGTGCAGACCTAAGGAAAAA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	29	29			NA	NA	1		NA											NA				52302111		2202	4300	6502	SO:0001630	splice_region_variant			X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618	4898	4898			7995	protein-coding gene	gene with protein product		602651			NA	9581555, 9479496	Standard	NM_002525	NM_002525	NA	Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.765-1G>T	1.37:g.52302111C>A		NA	A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	37	CCDS559.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082348	0.55861	.	.	ENSG00000078618	ENST00000354831;ENST00000539524	.	.	.	6.08	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4518	0.50158	0.0:0.9176:0.0:0.0824	.	.	.	.	.	-1	.	.	.	-	.	.	NRD1	52074699	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.963000	0.29293	1.584000	0.49913	0.655000	0.94253	.	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000023045.1	Intron	-	ENST00000354831.7	Splice_Site	SNP	1 : 52302111 - 52302111 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	159	24
OR1L1	26737	broad.mit.edu	37	9	125424359	125424359	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125424359G>A	ENST00000309623.1	+	1	365	c.365G>A	c.(364-366)cGc>cAc	p.R122H	OR1L1_ENST00000373686.1_Missense_Mutation_p.R172H	NM_001005236.3	NP_001005236.3	Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						GCCATTGACCGCTATGTGGCC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													260	235	243			NA	NA	9		NA											NA				125424359		2203	4300	6503	SO:0001583	missense				CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679	26737	26737		GPCR / Class A : Olfactory receptors	8213	protein-coding gene	gene with protein product				OR1L2	NA		Standard		NM_001005236	NA	Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000309623.1:c.365G>A	9.37:g.125424359G>A	ENSP00000310773:p.Arg122His	NA	Q5T7Z3|Q6IFN2	37	CCDS35127.2	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353302	0.41700	.	.	ENSG00000173679	ENST00000373686;ENST00000309623	T;T	0.77489	-1.1;-1.1	3.11	2.2	0.27929	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.73273	0.3566	M	0.61703	1.905	0.27518	N	0.951488	B	0.21520	0.057	B	0.20184	0.028	T	0.66968	-0.5789	9	0.72032	D	0.01	.	9.2331	0.37450	0.1151:0.0:0.8849:0.0	.	172	Q8NH94	OR1L1_HUMAN	H	172;122	ENSP00000362790:R172H;ENSP00000310773:R122H	ENSP00000310773:R122H	R	+	2	0	OR1L1	124464180	0.996000	0.38824	0.317000	0.25265	0.010000	0.07245	7.528000	0.81941	0.623000	0.30267	0.313000	0.20887	CGC	OR1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053949.1		+	ENST00000309623.1	Missense_Mutation	SNP	9 : 125424359 - 125424359 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1039	246
OR4S2	219431	broad.mit.edu	37	11	55418546	55418546	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55418546C>T	ENST00000312422.2	+	1	167	c.167C>T	c.(166-168)cCc>cTc	p.P56L		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TTTAAGTCACCCATGTATTTC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													244	193	211			NA	NA	11		NA											NA				55418546		2181	4046	6227	SO:0001583	missense			BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982	219431	219431		GPCR / Class A : Olfactory receptors	15183	protein-coding gene	gene with protein product			olfactory receptor, family 4, subfamily S, member 2 pseudogene	OR4S2P	NA		Standard	NM_001004059	NM_001004059	NA	Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.167C>T	11.37:g.55418546C>T	ENSP00000310337:p.Pro56Leu	NA	Q6IF72	37	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410657	0.62399	.	.	ENSG00000174982	ENST00000312422	T	0.02032	4.49	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000063	T	0.20047	0.0482	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.04961	-1.0915	10	0.87932	D	0	.	17.6575	0.88182	0.0:1.0:0.0:0.0	.	56	Q8NH73	OR4S2_HUMAN	L	56	ENSP00000310337:P56L	ENSP00000310337:P56L	P	+	2	0	OR4S2	55175122	1.000000	0.71417	0.897000	0.35233	0.125000	0.20455	6.636000	0.74299	2.512000	0.84698	0.549000	0.68633	CCC	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391503.1		+	ENST00000312422.2	Missense_Mutation	SNP	11 : 55418546 - 55418546 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	976	132
ZNF688	146542	broad.mit.edu	37	16	30581384	30581384	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30581384C>T	ENST00000223459.6	-	3	1788	c.684G>A	c.(682-684)gcG>gcA	p.A228A	ZNF688_ENST00000395219.1_Silent_p.A214A	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						TCCACTGGTGCGCTTCCACTG	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	15	14			NA	NA	16		NA											NA				30581384		2188	4282	6470	SO:0001819	synonymous_variant			AK122680	CCDS10684.1	16p11.2	2013-01-08			ENSG00000229809	ENSG00000229809	146542	146542		Zinc fingers, C2H2-type, -	30489	protein-coding gene	gene with protein product					NA	10493829	Standard	NM_145271	XM_005255139	NA	Approved		uc002dys.2	P0C7X2	OTTHUMG00000132408	ENST00000223459.6:c.684G>A	16.37:g.30581384C>T		NA	B3KV51|O75701|Q8IW91|Q8WV14|Q96MN0	37	CCDS10684.1																																																																																			ZNF688-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255544.2		-	ENST00000223459.6	Silent	SNP	16 : 30581384 - 30581384 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	137	28
DNAH11	8701	broad.mit.edu	37	7	21639415	21639415	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21639415A>C	ENST00000409508.3	+	15	2709	c.2678A>C	c.(2677-2679)aAg>aCg	p.K893T	DNAH11_ENST00000328843.6_Missense_Mutation_p.K893T	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	893	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAAAATAGGAAGCTCTTCAAA	0.338		NA							Kartagener syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	42	43			NA	NA	7		NA											NA				21639415		1816	4074	5890	SO:0001583	missense	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04				8701	8701		Axonemal dyneins	2942	protein-coding gene	gene with protein product	dynein, ciliary, heavy chain 11, dynein, heavy chain beta-like	603339	dynein, axonemal, heavy polypeptide 11		NA	9256245	Standard	NM_003777	NM_001277115	NA	Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2678A>C	7.37:g.21639415A>C	ENSP00000475939:p.Lys893Thr	NA	Q9UJ82	37		.	.	.	.	.	.	.	.	.	.	A	6.226	0.409865	0.11812	.	.	ENSG00000105877	ENST00000328843	T	0.24350	1.86	5.58	1.84	0.25277	.	0.956855	0.08767	N	0.896935	T	0.12433	0.0302	.	.	.	0.09310	N	1	B	0.26318	0.146	B	0.22152	0.038	T	0.36138	-0.9760	9	0.14656	T	0.56	.	4.9632	0.14078	0.5845:0.0:0.1398:0.2757	.	893	Q96DT5	DYH11_HUMAN	T	893	ENSP00000330671:K893T	ENSP00000330671:K893T	K	+	2	0	DNAH11	21605940	0.789000	0.28775	0.998000	0.56505	0.989000	0.77384	0.566000	0.23593	0.473000	0.27368	0.459000	0.35465	AAG	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000326582.6		+	ENST00000409508.3	Missense_Mutation	SNP	7 : 21639415 - 21639415 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	88	16
EDDM3A	10876	broad.mit.edu	37	14	21215860	21215860	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21215860C>T	ENST00000326842.2	+	2	248	c.121C>T	c.(121-123)Cca>Tca	p.P41S		NM_006683.4	NP_006674.2	Q14507	EP3A_HUMAN	epididymal protein 3A	41					sperm displacement	extracellular space				breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						TTACTTAAGTCCAAGTCGAGA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	96	96			NA	NA	14		NA											NA				21215860		2203	4300	6503	SO:0001583	missense			X76383	CCDS9556.1	14q11.1	2010-03-19	2010-01-27	2010-01-27	ENSG00000181562	ENSG00000181562	10876	10876			16978	protein-coding gene	gene with protein product		611580	family with sequence similarity 12, member A	FAM12A	NA	7514008	Standard		NM_006683	NA	Approved	HE3-ALPHA	uc001vyc.3	Q14507	OTTHUMG00000029581	ENST00000326842.2:c.121C>T	14.37:g.21215860C>T	ENSP00000315098:p.Pro41Ser	NA	Q4KN33	37	CCDS9556.1	.	.	.	.	.	.	.	.	.	.	C	7.082	0.570464	0.13560	.	.	ENSG00000181562	ENST00000326842	T	0.44881	0.91	2.46	-0.08	0.13708	Ribonuclease A, domain (2);	1.089430	0.07136	N	0.846540	T	0.30135	0.0755	L	0.38531	1.155	0.09310	N	1	B	0.28233	0.204	B	0.32724	0.151	T	0.30475	-0.9977	10	0.21540	T	0.41	.	3.3642	0.07198	0.304:0.542:0.0:0.154	.	41	Q14507	EP3A_HUMAN	S	41	ENSP00000315098:P41S	ENSP00000315098:P41S	P	+	1	0	EDDM3A	20285700	0.000000	0.05858	0.036000	0.18154	0.306000	0.27790	-0.629000	0.05508	-0.231000	0.09825	0.313000	0.20887	CCA	EDDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000073742.3		+	ENST00000326842.2	Missense_Mutation	SNP	14 : 21215860 - 21215860 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	507	85
WNK4	65266	broad.mit.edu	37	17	40936549	40936549	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40936549G>A	ENST00000246914.5	+	4	1143	c.1122G>A	c.(1120-1122)ccG>ccA	p.P374P		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	374	Protein kinase.				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTGAGTACCCGTACTCCGAGT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(6;201 374 4964 23855 42828)							NA				0													90	72	78			NA	NA	17		NA											NA				40936549		2203	4300	6503	SO:0001819	synonymous_variant			AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562	65266	65266			14544	protein-coding gene	gene with protein product		601844	protein kinase, lysine deficient 4	PRKWNK4	NA		Standard		NM_032387	NA	Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.1122G>A	17.37:g.40936549G>A		NA	Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	37	CCDS11439.1																																																																																			WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452389.1		+	ENST00000246914.5	Silent	SNP	17 : 40936549 - 40936549 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	197	11
ARHGAP9	64333	broad.mit.edu	37	12	57873102	57873102	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57873102G>A	ENST00000393797.2	-	5	493	c.301C>T	c.(301-303)Ctc>Ttc	p.L101F	ARHGAP9_ENST00000424809.2_Missense_Mutation_p.L30F|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.L109F|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.L30F|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.L30F			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	30					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AAGGCATAGAGGGCACAGAGC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	58	58			NA	NA	12		NA											NA				57873102		2203	4300	6503	SO:0001583	missense			AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329	64333	64333		Rho GTPase activating proteins, Pleckstrin homology (PH) domain containing	14130	protein-coding gene	gene with protein product		610576			NA	11396949	Standard	NM_032496	NM_032496	NA	Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000393797.2:c.301C>T	12.37:g.57873102G>A	ENSP00000377386:p.Leu101Phe	NA	Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	37		.	.	.	.	.	.	.	.	.	.	G	19.52	3.843155	0.71488	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000424809;ENST00000393797;ENST00000340423	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	4.79	3.88	0.44766	Src homology-3 domain (4);	0.110363	0.41823	D	0.000814	T	0.79347	0.4430	M	0.89414	3.03	0.28020	N	0.934572	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;1.0	D;D;D;D;D	0.91635	0.999;0.986;0.998;0.976;0.986	T	0.72121	-0.4386	10	0.54805	T	0.06	.	9.5783	0.39472	0.1051:0.0:0.8949:0.0	.	30;109;30;30;30	B4E248;Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9	.;.;RHG09_HUMAN;.;.	F	30;30;30;101;79	ENSP00000377380:L30F;ENSP00000348782:L30F;ENSP00000394307:L30F;ENSP00000377386:L101F	ENSP00000344852:L79F	L	-	1	0	ARHGAP9	56159369	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.208000	0.58486	2.357000	0.79964	0.655000	0.94253	CTC	ARHGAP9-002	PUTATIVE	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000316538.3		-	ENST00000393797.2	Missense_Mutation	SNP	12 : 57873102 - 57873102 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	519	48
AJAP1	55966	broad.mit.edu	37	1	4772744	4772744	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:4772744C>A	ENST00000378191.4	+	2	1195	c.814C>A	c.(814-816)Ctg>Atg	p.L272M	AJAP1_ENST00000378190.3_Missense_Mutation_p.L272M	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	272					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CCCAAGGATTCTGGGGGAGGC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	73	71			NA	NA	1		NA											NA				4772744		2203	4300	6503	SO:0001583	missense			AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581	55966	55966			30801	protein-coding gene	gene with protein product	transmembrane protein SHREW1	610972			NA	14595118	Standard	NM_018836	NM_001042478	NA	Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.814C>A	1.37:g.4772744C>A	ENSP00000367433:p.Leu272Met	NA	Q9Y229	37	CCDS54.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614309	0.46631	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.45668	0.89;0.89	5.14	4.23	0.50019	.	0.583699	0.15838	N	0.242159	T	0.44787	0.1310	L	0.27053	0.805	0.27055	N	0.963683	D	0.64830	0.994	P	0.60682	0.878	T	0.23013	-1.0200	10	0.41790	T	0.15	-3.634	9.2565	0.37586	0.0:0.8999:0.0:0.1001	.	272	Q9UKB5	AJAP1_HUMAN	M	272	ENSP00000367432:L272M;ENSP00000367433:L272M	ENSP00000367432:L272M	L	+	1	2	AJAP1	4672604	0.705000	0.27846	0.994000	0.49952	0.948000	0.59901	1.026000	0.30103	1.149000	0.42402	0.467000	0.42956	CTG	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000001542.3		+	ENST00000378191.4	Missense_Mutation	SNP	1 : 4772744 - 4772744 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	655	55
STAB1	23166	broad.mit.edu	37	3	52542317	52542317	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52542317G>A	ENST00000321725.6	+	21	2253	c.2177G>A	c.(2176-2178)gGg>gAg	p.G726E		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	726					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)		GGTTTTTTCGGGCCTGACTGC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	115	116			NA	NA	3		NA											NA				52542317		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.2177G>A	3.37:g.52542317G>A	ENSP00000312946:p.Gly726Glu	NA	A7E297|Q8IUH0|Q8IUH1|Q93072	37	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027530	0.93518	.	.	ENSG00000010327	ENST00000321725	D	0.87029	-2.2	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.95629	0.8579	M	0.94142	3.5	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96418	0.9309	10	0.87932	D	0	.	18.6215	0.91322	0.0:0.0:1.0:0.0	.	726;726	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	E	726	ENSP00000312946:G726E	ENSP00000312946:G726E	G	+	2	0	STAB1	52517357	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	8.247000	0.89830	2.697000	0.92050	0.563000	0.77884	GGG	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351380.2		+	ENST00000321725.6	Missense_Mutation	SNP	3 : 52542317 - 52542317 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	517	83
FGD1	2245	broad.mit.edu	37	X	54496518	54496518	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54496518G>A	ENST00000375135.3	-	4	1765	c.1032C>T	c.(1030-1032)gaC>gaT	p.D344D		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	344					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.D344D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						cctcctcctcgtcgtcctcct	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											34	31	32			NA	NA	X		NA											NA				54496518		2203	4300	6503	SO:0001819	synonymous_variant			U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302	2245	2245		Zinc fingers, FYVE domain containing, Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	3663	protein-coding gene	gene with protein product		300546	faciogenital dysplasia (Aarskog-Scott syndrome)	FGDY	NA		Standard	NM_004463	NM_004463	NA	Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.1032C>T	X.37:g.54496518G>A		NA	Q5H999|Q8N4D9	37	CCDS14359.1																																																																																			FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056801.1		-	ENST00000375135.3	Silent	SNP	X : 54496518 - 54496518 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	106	36
ZNF765	91661	broad.mit.edu	37	19	53912333	53912333	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53912333C>A	ENST00000396408.3	+	4	1642	c.1525C>A	c.(1525-1527)Ctt>Att	p.L509I	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		CAAATCAAACCTTGAAAGACA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	36	35			NA	NA	19		NA											NA				53912333		2167	4284	6451	SO:0001583	missense			BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417	91661	91661		Zinc fingers, C2H2-type, -	25092	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_138372	XR_430215	NA	Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.1525C>A	19.37:g.53912333C>A	ENSP00000379689:p.Leu509Ile	NA	A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	37	CCDS46171.1	.	.	.	.	.	.	.	.	.	.	-	11.43	1.636833	0.29068	.	.	ENSG00000196417	ENST00000396408	T	0.41065	1.01	1.27	-0.14	0.13456	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.65281	0.2676	M	0.92880	3.355	0.09310	N	1	B	0.33940	0.433	P	0.54210	0.745	T	0.62558	-0.6829	8	.	.	.	.	6.239	0.20778	0.0:0.6819:0.3181:0.0	.	509	Q7L2R6	ZN765_HUMAN	I	509	ENSP00000379689:L509I	.	L	+	1	0	ZNF765	58604145	0.007000	0.16637	0.000000	0.03702	0.031000	0.12232	0.205000	0.17356	-0.241000	0.09681	0.297000	0.19635	CTT	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000371603.1		+	ENST00000396408.3	Missense_Mutation	SNP	19 : 53912333 - 53912333 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	193	47
LPO	4025	broad.mit.edu	37	17	56326965	56326965	+	Missense_Mutation	SNP	C	C	T	rs140216571		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56326965C>T	ENST00000262290.4	+	6	798	c.482C>T	c.(481-483)gCg>gTg	p.A161V	LPO_ENST00000543544.1_Missense_Mutation_p.A102V|LPO_ENST00000421678.2_Missense_Mutation_p.A78V|LPO_ENST00000582328.1_Missense_Mutation_p.A78V	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	161					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						AGGGCTCTGGCGCGCTGGCTG	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	17	16			NA	NA	17		NA											NA				56326965		2153	4215	6368	SO:0001583	missense			M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	NA	4025	1.11.1.7		6678	protein-coding gene	gene with protein product		150205			NA	2222811, 8964511	Standard		NM_006151	NA	Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.482C>T	17.37:g.56326965C>T	ENSP00000262290:p.Ala161Val	NA	Q13408|Q3KNQ2	37	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	C	36	5.609118	0.96637	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544	T;T;T	0.70045	-0.45;-0.45;-0.45	5.45	5.45	0.79879	.	0.165981	0.53938	D	0.000050	T	0.74344	0.3704	L	0.48218	1.51	0.52501	D	0.999955	D;D;D;D	0.89917	1.0;0.983;0.998;0.999	P;P;P;P	0.60173	0.735;0.468;0.806;0.87	T	0.70799	-0.4774	10	0.30078	T	0.28	.	18.2787	0.90092	0.0:1.0:0.0:0.0	.	78;78;102;161	B4DUH9;E7EMJ3;B4E1M1;P22079	.;.;.;PERL_HUMAN	V	161;78;102	ENSP00000262290:A161V;ENSP00000400245:A78V;ENSP00000445344:A102V	ENSP00000262290:A161V	A	+	2	0	LPO	53681964	0.934000	0.31675	1.000000	0.80357	0.977000	0.68977	0.792000	0.26929	2.543000	0.85770	0.655000	0.94253	GCG	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443961.1		+	ENST00000262290.4	Missense_Mutation	SNP	17 : 56326965 - 56326965 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	195	36
ZFP42	132625	broad.mit.edu	37	4	188924725	188924725	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:188924725G>A	ENST00000326866.4	+	4	1172	c.764G>A	c.(763-765)cGc>cAc	p.R255H	ZFP42_ENST00000509524.1_Missense_Mutation_p.R255H	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	255					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TGCGGAAAGCGCTTCTCTCTG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	83	83			NA	NA	4		NA											NA				188924725		2203	4300	6503	SO:0001583	missense			AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059	132625	132625		Zinc fingers, C2H2-type	30949	protein-coding gene	gene with protein product		614572	zinc finger protein 42 homolog (mouse), zinc finger protein 42		NA	12110702	Standard	NM_174900	NM_174900	NA	Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.764G>A	4.37:g.188924725G>A	ENSP00000317686:p.Arg255His	NA	D3DP65|Q8WXE2	37	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180323	0.57800	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	D;D	0.98792	-5.14;-5.14	4.39	3.55	0.40652	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.063070	0.64402	D	0.000006	D	0.97936	0.9321	L	0.55834	1.745	0.37700	D	0.924187	D	0.89917	1.0	P	0.54759	0.76	D	0.98586	1.0652	10	0.56958	D	0.05	.	10.8275	0.46643	0.0938:0.0:0.9062:0.0	.	255	Q96MM3	ZFP42_HUMAN	H	255	ENSP00000317686:R255H;ENSP00000424662:R255H	ENSP00000317686:R255H	R	+	2	0	ZFP42	189161719	1.000000	0.71417	0.997000	0.53966	0.009000	0.06853	7.563000	0.82314	1.443000	0.47586	0.655000	0.94253	CGC	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359794.1		+	ENST00000326866.4	Missense_Mutation	SNP	4 : 188924725 - 188924725 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	64
PAPSS2	9060	broad.mit.edu	37	10	89473032	89473032	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:89473032G>A	ENST00000361175.4	+	3	715	c.346G>A	c.(346-348)Gtc>Atc	p.V116I	PAPSS2_ENST00000456849.1_Missense_Mutation_p.V116I|PAPSS2_ENST00000482258.1_3'UTR|PAPSS2_ENST00000427144.2_Missense_Mutation_p.V120I	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	116					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		TGCTGGTCTGGTCTGCATTAC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	91	93			NA	NA	10		NA											NA				89473032		2203	4300	6503	SO:0001583	missense			AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	9060	9060	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005			NA	9771708	Standard		NM_004670	NA	Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.346G>A	10.37:g.89473032G>A	ENSP00000354436:p.Val116Ile	NA	Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	37	CCDS7385.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.341184	0.24339	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.74842	-0.88;-0.88;-0.88	5.78	1.9	0.25705	Adenylylsulphate kinase, C-terminal (3);	0.167857	0.52532	N	0.000075	T	0.47820	0.1466	N	0.04959	-0.14	0.58432	D	0.999999	B;B	0.02656	0.0;0.0	B;B	0.14023	0.01;0.002	T	0.23226	-1.0194	10	0.08599	T	0.76	-13.2731	10.4387	0.44452	0.2627:0.0:0.7373:0.0	.	116;116	O95340;O95340-2	PAPS2_HUMAN;.	I	116;116;120;115	ENSP00000354436:V116I;ENSP00000406157:V116I;ENSP00000397123:V120I	ENSP00000354436:V116I	V	+	1	0	PAPSS2	89463012	1.000000	0.71417	0.995000	0.50966	0.848000	0.48234	3.235000	0.51328	0.097000	0.17492	0.591000	0.81541	GTC	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049229.1		+	ENST00000361175.4	Missense_Mutation	SNP	10 : 89473032 - 89473032 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	78
TBC1D29	26083	broad.mit.edu	37	17	28890251	28890251	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28890251T>C	ENST00000584297.1	+	4	361	c.212T>C	c.(211-213)tTt>tCt	p.F71S	TBC1D29_ENST00000580161.1_Silent_p.I87I|TBC1D29_ENST00000579181.1_Silent_p.I87I			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	0						intracellular	Rab GTPase activator activity			breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				CCAGACCCATTTGTGAGAGCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	24	24			NA	NA	17		NA											NA				28890251		2203	4300	6503	SO:0001583	missense			BC096718	CCDS32606.1	17q11.2	2014-09-04			ENSG00000266733	ENSG00000266733	26083	26083			24509	protein-coding gene	gene with protein product					NA	12618308	Standard	NM_015594	XM_006721805	NA	Approved	DKFZP434O047	uc002hfh.3	Q9UFV1	OTTHUMG00000178857	ENST00000584297.1:c.212T>C	17.37:g.28890251T>C	ENSP00000463703:p.Phe71Ser	NA		37		.	.	.	.	.	.	.	.	.	.	.	5.244	0.230510	0.09969	.	.	ENSG00000197689	ENST00000378698	.	.	.	.	.	.	.	.	.	.	.	T	0.52996	0.1769	.	.	.	0.39079	D	0.96086	.	.	.	.	.	.	T	0.45469	-0.9259	3	0.25751	T	0.34	.	.	.	.	.	.	.	.	S	71	.	ENSP00000367970:F71S	F	+	2	0	TBC1D29	25914377	0.044000	0.20184	0.047000	0.18901	0.047000	0.14425	-0.099000	0.11007	0.093000	0.17368	0.092000	0.15492	TTT	TBC1D29-002	PUTATIVE	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000443633.1		+	ENST00000584297.1	Missense_Mutation	SNP	17 : 28890251 - 28890251 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	133	29
RYR3	6263	broad.mit.edu	37	15	33927881	33927881	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33927881C>T	ENST00000389232.4	+	26	3312	c.3242C>T	c.(3241-3243)gCa>gTa	p.A1081V	RYR3_ENST00000415757.3_Missense_Mutation_p.A1081V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1081	4 X approximate repeats.|B30.2/SPRY 2.			A -> P (in Ref. 1; BAA23795).	cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CGATCTTATGCAGTGAGATCT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	73	73			NA	NA	15		NA											NA				33927881		2052	4232	6284	SO:0001583	missense				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838	6263	6263		Ion channels / Ryanodine receptors, EF-hand domain containing	10485	protein-coding gene	gene with protein product		180903			NA	8276408	Standard		NM_001036	NA	Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.3242C>T	15.37:g.33927881C>T	ENSP00000373884:p.Ala1081Val	NA	O15175|Q15412	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224308	0.95139	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.74209	-0.82;-0.82	5.32	5.32	0.75619	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	D	0.86838	0.6029	M	0.81802	2.56	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.985	D	0.85416	0.1140	10	0.37606	T	0.19	.	19.1899	0.93660	0.0:1.0:0.0:0.0	.	1081;1081	Q15413-2;Q15413	.;RYR3_HUMAN	V	1081	ENSP00000373884:A1081V;ENSP00000399610:A1081V	ENSP00000354735:A1081V	A	+	2	0	RYR3	31715173	1.000000	0.71417	0.836000	0.33094	0.901000	0.52897	7.559000	0.82265	2.760000	0.94817	0.655000	0.94253	GCA	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417514.1		+	ENST00000389232.4	Missense_Mutation	SNP	15 : 33927881 - 33927881 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	197	31
VPRBP	9730	broad.mit.edu	37	3	51517735	51517735	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51517735C>A	ENST00000335891.5	-	1	119	c.110G>T	c.(109-111)aGg>aTg	p.R37M				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	37					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TTATTCATACCTGGTAAGGAT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	102	105			NA	NA	3		NA											NA				51517735		1893	4107	6000	SO:0001630	splice_region_variant			AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041	9730	9730		DDB1 and CUL4 associated factors	30911	protein-coding gene	gene with protein product	DDB1 and CUL4 associated factor 1				NA	8195203, 11223251	Standard	NM_014703	NM_014703	NA	Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.110+1G>T	3.37:g.51517735C>A		NA	Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	37		.	.	.	.	.	.	.	.	.	.	C	22.0	4.229696	0.79688	.	.	ENSG00000145041	ENST00000335891;ENST00000504652	T;T	0.61040	0.14;0.59	4.95	4.95	0.65309	.	0.086238	0.85682	D	0.000000	T	0.62780	0.2456	M	0.61703	1.905	0.30541	N	0.766426	P	0.47910	0.902	P	0.47981	0.563	T	0.65709	-0.6102	9	.	.	.	-9.4898	16.5015	0.84257	0.0:1.0:0.0:0.0	.	37	Q9Y4B6	VPRBP_HUMAN	M	37	ENSP00000338857:R37M;ENSP00000421724:R37M	.	R	-	2	0	VPRBP	51492775	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.121000	0.57904	2.729000	0.93468	0.655000	0.94253	AGG	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding		Missense_Mutation	-	ENST00000335891.5	Splice_Site	SNP	3 : 51517735 - 51517735 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	506	86
RAB3IP	117177	broad.mit.edu	37	12	70206614	70206614	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70206614A>G	ENST00000550536.1	+	9	1692	c.1235A>G	c.(1234-1236)gAc>gGc	p.D412G	RAB3IP_ENST00000247833.7_Missense_Mutation_p.D396G|RAB3IP_ENST00000325555.9_Missense_Mutation_p.D190G|AC025263.3_ENST00000550437.1_Missense_Mutation_p.D37G|RAB3IP_ENST00000553099.1_Missense_Mutation_p.D190G|RAB3IP_ENST00000483530.2_Intron|RAB3IP_ENST00000550847.1_Missense_Mutation_p.D103G|RAB3IP_ENST00000362025.5_Intron|RAB3IP_ENST00000551641.1_Missense_Mutation_p.D190G	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	412					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			AAATTAGGGGACTCAAGCAAC	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	95	93			NA	NA	12		NA											NA				70206614		2203	4300	6503	SO:0001583	missense				CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328	117177	117177			16508	protein-coding gene	gene with protein product	rabin3	608686			NA		Standard	NM_022456	NM_175623	NA	Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000550536.1:c.1235A>G	12.37:g.70206614A>G	ENSP00000447300:p.Asp412Gly	NA	B7WPJ6|Q6PCE4|Q96A24|Q96QE6|Q96QE7|Q96QE8|Q96QE9|Q96QF1|Q9H673	37	CCDS8993.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.7|25.7	4.664593|4.664593	0.88251|0.88251	.|.	.|.	ENSG00000127328|ENSG00000127328	ENST00000247833;ENST00000325555;ENST00000550536;ENST00000551641;ENST00000553099;ENST00000550847|ENST00000526994	T;T;T;T;T;T|.	0.49432|.	0.78;0.78;0.78;0.78;0.78;0.78|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77545|0.77545	0.4146|0.4146	M|M	0.80508|0.80508	2.5|2.5	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.77004|.	0.989|.	T|T	0.78768|0.78768	-0.2075|-0.2075	10|5	0.51188|.	T|.	0.08|.	.|.	16.0977|16.0977	0.81139|0.81139	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	412|.	Q96QF0|.	RAB3I_HUMAN|.	G|A	396;190;412;190;190;103|128	ENSP00000247833:D396G;ENSP00000323349:D190G;ENSP00000447300:D412G;ENSP00000448773:D190G;ENSP00000448027:D190G;ENSP00000448102:D103G|.	ENSP00000447336:D37G|.	D|T	+|+	2|1	0|0	RAB3IP|RAB3IP	68492881|68492881	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.962000|8.962000	0.93254|0.93254	2.216000|2.216000	0.71823|0.71823	0.528000|0.528000	0.53228|0.53228	GAC|ACT	RAB3IP-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280669.2		+	ENST00000550536.1	Missense_Mutation	SNP	12 : 70206614 - 70206614 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	453	87
ARSG	22901	broad.mit.edu	37	17	66339816	66339816	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66339816G>A	ENST00000448504.2	+	3	1086	c.290G>A	c.(289-291)gGc>gAc	p.G97D	ARSG_ENST00000452479.2_5'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	97					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGCCGGCTTGGCCTTCGCAAT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	61	65			NA	NA	17		NA											NA				66339816		2203	4300	6503	SO:0001583	missense			AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337	22901	22901		Arylsulfatase family	24102	protein-coding gene	gene with protein product		610008			NA	12461688, 16174644	Standard	NM_014960	NM_014960	NA	Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.290G>A	17.37:g.66339816G>A	ENSP00000407193:p.Gly97Asp	NA	Q6UXF2|Q9Y2K4	37	CCDS11676.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746529	0.89663	.	.	ENSG00000141337	ENST00000452479	.	.	.	4.86	4.86	0.63082	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.83482	0.5264	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.85275	0.1058	9	0.51188	T	0.08	.	17.7751	0.88504	0.0:0.0:1.0:0.0	.	97	Q96EG1	ARSG_HUMAN	D	97	.	ENSP00000413953:G97D	G	+	2	0	ARSG	63851411	1.000000	0.71417	0.997000	0.53966	0.922000	0.55478	8.229000	0.89791	2.514000	0.84764	0.650000	0.86243	GGC	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448369.1		+	ENST00000448504.2	Missense_Mutation	SNP	17 : 66339816 - 66339816 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	336	61
BLOC1S1	2647	broad.mit.edu	37	12	56113380	56113380	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56113380C>A	ENST00000547076.1	+	4	730	c.215C>A	c.(214-216)tCt>tAt	p.S72Y	BLOC1S1_ENST00000549147.1_3'UTR|RP11-644F5.10_ENST00000550412.1_Intron|BLOC1S1_ENST00000257899.2_Missense_Mutation_p.S122Y|BLOC1S1_ENST00000548925.1_Missense_Mutation_p.S150Y|RP11-644F5.10_ENST00000549424.1_Intron|BLOC1S1_ENST00000548556.1_Missense_Mutation_p.S72Y			P78537	BL1S1_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 1	150					cellular membrane organization|melanosome organization|platelet dense granule organization|post-Golgi vesicle-mediated transport	BLOC-1 complex|lysosomal membrane	protein binding			breast(1)|endometrium(1)|large_intestine(1)|prostate(1)	4						CAGCTGCAGTCTGCCCCTTCC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(112;1254 2715 13015)							NA				0													57	51	53			NA	NA	12		NA											NA				56113380		2203	4300	6503	SO:0001583	missense			S82447	CCDS8889.1, CCDS8889.2	12q13-q14	2012-08-01	2008-08-11	2004-05-26		ENSG00000135441	2647	2647		Biogenesis of lysosomal organelles complex-1 subunits	4200	protein-coding gene	gene with protein product	GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1, BLOC-1 Subunit 1, Biogenesis of Lysosome-related Organelles complex-1 Subunit 1	601444	GCN5 general control of amino-acid synthesis 5-like 1 (yeast)	GCN5L1	NA	8646881, 15102850	Standard	NM_001487	NM_001487	NA	Approved	BLOS1	uc001shi.4	P78537		ENST00000547076.1:c.215C>A	12.37:g.56113380C>A	ENSP00000448605:p.Ser72Tyr	NA	A1L4Q9|Q6NZ45	37		.	.	.	.	.	.	.	.	.	.	C	17.61	3.431200	0.62844	.	.	ENSG00000135441	ENST00000257899;ENST00000548925;ENST00000547076;ENST00000548556	.	.	.	5.37	5.37	0.77165	.	0.180436	0.49916	D	0.000134	T	0.61438	0.2347	L	0.40543	1.245	0.43054	D	0.994668	D	0.55385	0.971	P	0.52109	0.69	T	0.64462	-0.6402	9	0.62326	D	0.03	-2.7568	16.9981	0.86373	0.0:1.0:0.0:0.0	.	150	P78537	BL1S1_HUMAN	Y	122;150;72;72	.	ENSP00000257899:S122Y	S	+	2	0	BLOC1S1	54399647	1.000000	0.71417	0.990000	0.47175	0.083000	0.17756	7.190000	0.77755	2.683000	0.91414	0.655000	0.94253	TCT	BLOC1S1-006	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000407488.1		+	ENST00000547076.1	Missense_Mutation	SNP	12 : 56113380 - 56113380 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	52
PPFIBP2	8495	broad.mit.edu	37	11	7654163	7654163	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7654163C>T	ENST00000530181.1	+	8	926	c.705C>T	c.(703-705)acC>acT	p.T235T	PPFIBP2_ENST00000528883.1_Silent_p.T266T|PPFIBP2_ENST00000533792.1_Silent_p.T220T|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000299492.4_Silent_p.T378T	NM_001256569.1	NP_001243498	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	378					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CACTGGAAACCAGGTAAGAGG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	75	80			NA	NA	11		NA											NA				7654163		2201	4296	6497	SO:0001819	synonymous_variant			AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387	8495	8495		Sterile alpha motif (SAM) domain containing	9250	protein-coding gene	gene with protein product		603142			NA	9624153	Standard	NM_003621	NM_003621	NA	Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000530181.1:c.705C>T	11.37:g.7654163C>T		NA	O75337|Q8WW26	37	CCDS58117.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.937398	0.34189	.	.	ENSG00000166387	ENST00000534409	.	.	.	5.35	2.18	0.27775	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.2833	6.8839	0.24189	0.3726:0.466:0.1614:0.0	.	.	.	.	X	58	.	.	Q	+	1	0	PPFIBP2	7610739	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	1.126000	0.31344	1.231000	0.43661	0.561000	0.74099	CAG	PPFIBP2-008	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385403.2		+	ENST00000530181.1	Silent	SNP	11 : 7654163 - 7654163 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	174	30
NR2C1	7181	broad.mit.edu	37	12	95422177	95422177	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95422177A>G	ENST00000333003.5	-	12	1847	c.1517T>C	c.(1516-1518)gTa>gCa	p.V506A		NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	506					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						ACTGAAGAGTACTATTGCCTT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	95	99			NA	NA	12		NA											NA				95422177		2203	4300	6503	SO:0001583	missense			M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798	7181	7181		Nuclear hormone receptors	7971	protein-coding gene	gene with protein product		601529		TR2	NA	2597158	Standard	NM_003297	NM_001032287	NA	Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.1517T>C	12.37:g.95422177A>G	ENSP00000333275:p.Val506Ala	NA	A8K5K4|Q15625|Q15626	37	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	A	17.08	3.297574	0.60086	.	.	ENSG00000120798	ENST00000333003	D	0.96716	-4.1	5.23	5.23	0.72850	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.055467	0.64402	D	0.000001	D	0.93112	0.7807	L	0.43554	1.36	0.80722	D	1	B	0.17465	0.022	B	0.18263	0.021	D	0.89908	0.4049	10	0.46703	T	0.11	.	9.6208	0.39721	0.9215:0.0:0.0785:0.0	.	506	P13056	NR2C1_HUMAN	A	506	ENSP00000333275:V506A	ENSP00000333275:V506A	V	-	2	0	NR2C1	93946308	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.574000	0.82434	1.960000	0.56953	0.460000	0.39030	GTA	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407565.2		-	ENST00000333003.5	Missense_Mutation	SNP	12 : 95422177 - 95422177 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	198	33
PEG3	5178	broad.mit.edu	37	19	57328491	57328491	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57328491G>A	ENST00000326441.9	-	10	1682	c.1319C>T	c.(1318-1320)aCc>aTc	p.T440I	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.T316I|PEG3_ENST00000423103.2_Missense_Mutation_p.T440I|PEG3_ENST00000593695.1_Missense_Mutation_p.T314I|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	440					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTGTGACTCGGTAAAGGAGGG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	156	159			NA	NA	19		NA											NA				57328491		2203	4300	6503	SO:0001583	missense			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300	5178	5178		Zinc fingers, C2H2-type, -, -, -	8826	protein-coding gene	gene with protein product		601483			NA	9149948	Standard		NM_006210	NA	Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1319C>T	19.37:g.57328491G>A	ENSP00000326581:p.Thr440Ile	NA	P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	5.839	0.339049	0.11069	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.02837	4.14;4.14	4.14	2.02	0.26589	.	0.972834	0.08419	N	0.948615	T	0.01592	0.0051	L	0.27053	0.805	.	.	.	B;B;P	0.46395	0.08;0.005;0.877	B;B;B	0.36030	0.027;0.005;0.216	T	0.12142	-1.0559	9	0.02654	T	1	-3.6534	2.948	0.05852	0.0984:0.1807:0.5344:0.1866	.	316;440;375	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	I	440;440;410	ENSP00000326581:T440I;ENSP00000403051:T440I	ENSP00000292074:T410I	T	-	2	0	ZIM2	62020303	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.686000	0.25392	0.714000	0.32081	-0.127000	0.14921	ACC	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416099.2		-	ENST00000326441.9	Missense_Mutation	SNP	19 : 57328491 - 57328491 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	710	139
NMUR1	10316	broad.mit.edu	37	2	232392906	232392906	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232392906C>A	ENST00000305141.4	-	2	959	c.826G>T	c.(826-828)Gca>Tca	p.A276S		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	276					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GACCTGGCTGCTGCAGAGCCC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	42	42			NA	NA	2		NA											NA				232392906		2203	4300	6503	SO:0001583	missense			AF044600	CCDS2486.1	2q37.1	2012-08-08	2004-05-27	2004-05-28	ENSG00000171596	ENSG00000171596	10316	10316		GPCR / Class A : Neuromedin U receptors	4518	protein-coding gene	gene with protein product		604153	G protein-coupled receptor 66	GPR66	NA	9782091	Standard	NM_006056	NM_006056	NA	Approved	GPC-R, FM-3, NMU1R	uc002vry.4	Q9HB89	OTTHUMG00000133225	ENST00000305141.4:c.826G>T	2.37:g.232392906C>A	ENSP00000305877:p.Ala276Ser	NA	O43664|Q7LDP6|Q8NE20	37	CCDS2486.1	.	.	.	.	.	.	.	.	.	.	C	1.751	-0.489353	0.04352	.	.	ENSG00000171596	ENST00000305141	T	0.34859	1.34	2.43	-2.21	0.06973	GPCR, rhodopsin-like superfamily (1);	485.990000	0.01751	U	0.029957	T	0.19927	0.0479	N	0.25992	0.78	0.09310	N	1	B	0.31949	0.348	B	0.27380	0.079	T	0.05632	-1.0873	10	0.09084	T	0.74	.	3.722	0.08460	0.0:0.2798:0.4085:0.3117	.	276	Q9HB89	NMUR1_HUMAN	S	276	ENSP00000305877:A276S	ENSP00000305877:A276S	A	-	1	0	NMUR1	232101150	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.635000	0.24629	-0.320000	0.08640	-0.390000	0.06520	GCA	NMUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256961.1		-	ENST00000305141.4	Missense_Mutation	SNP	2 : 232392906 - 232392906 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	285	12
CCDC91	55297	broad.mit.edu	37	12	28636989	28636989	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:28636989C>A	ENST00000545336.1	+	15	1525	c.1106C>A	c.(1105-1107)aCt>aAt	p.T369N	CCDC91_ENST00000539107.1_Missense_Mutation_p.T333N|CCDC91_ENST00000306172.5_Missense_Mutation_p.T339N|CCDC91_ENST00000381259.1_Missense_Mutation_p.T369N|CCDC91_ENST00000381256.1_Missense_Mutation_p.T333N|CCDC91_ENST00000540401.1_3'UTR			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	369	Homodimerization.				protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					AAACAGGAAACTGTTAAGGCA	0.398		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	12		NA											NA				28636989		2203	4300	6503	SO:0001583	missense			AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106	55297	55297			24855	protein-coding gene	gene with protein product	GGA binding partner				NA	12808037	Standard	NM_018318	XM_005253413	NA	Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.1106C>A	12.37:g.28636989C>A	ENSP00000438040:p.Thr369Asn	NA	B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	37	CCDS8716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.50|14.50	2.554824|2.554824	0.45487|0.45487	.|.	.|.	ENSG00000123106|ENSG00000123106	ENST00000542801|ENST00000536154;ENST00000539107;ENST00000545336;ENST00000381259;ENST00000381256;ENST00000306172;ENST00000535212	.|T;T;T;T;T;T;T	.|0.46819	.|1.43;0.99;1.43;1.43;0.99;1.42;0.86	5.83|5.83	3.69|3.69	0.42338|0.42338	.|.	.|0.199900	.|0.34906	.|N	.|0.003599	T|T	0.30823|0.30823	0.0777|0.0777	N|N	0.08118|0.08118	0|0	0.21579|0.21579	N|N	0.999638|0.999638	.|P;P;P	.|0.40794	.|0.514;0.729;0.729	.|B;P;P	.|0.45232	.|0.193;0.474;0.474	T|T	0.09930|0.09930	-1.0652|-1.0652	5|10	.|0.38643	.|T	.|0.18	-10.0404|-10.0404	8.9952|8.9952	0.36048|0.36048	0.0:0.8074:0.0:0.1926|0.0:0.8074:0.0:0.1926	.|.	.|333;369;339	.|Q7Z6B0-3;Q7Z6B0;Q7Z6B0-2	.|.;CCD91_HUMAN;.	M|N	40|109;333;369;369;333;339;68	.|ENSP00000444440:T109N;ENSP00000440513:T333N;ENSP00000438040:T369N;ENSP00000370658:T369N;ENSP00000370655:T333N;ENSP00000305075:T339N;ENSP00000445999:T68N	.|ENSP00000305075:T339N	L|T	+|+	1|2	2|0	CCDC91|CCDC91	28528256|28528256	0.983000|0.983000	0.35010|0.35010	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	1.337000|1.337000	0.33862|0.33862	1.473000|1.473000	0.48159|0.48159	0.655000|0.655000	0.94253|0.94253	CTG|ACT	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402447.1		+	ENST00000545336.1	Missense_Mutation	SNP	12 : 28636989 - 28636989 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	88	18
C1orf111	284680	broad.mit.edu	37	1	162344026	162344026	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162344026T>G	ENST00000367935.5	-	3	677	c.598A>C	c.(598-600)Agc>Cgc	p.S200R	RP11-565P22.6_ENST00000431696.1_Intron	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	chromosome 1 open reading frame 111	NA										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			TTGATGTGGCTCTTGAGGAAG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	115	115			NA	NA	1		NA											NA				162344026		2203	4300	6503	SO:0001583	missense			BC032957	CCDS1238.1	1q23.3	2008-02-05			ENSG00000171722	ENSG00000171722	284680	284680			27648	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_182581	NM_182581	NA	Approved		uc001gbx.2	Q5T0L3	OTTHUMG00000031375	ENST00000367935.5:c.598A>C	1.37:g.162344026T>G	ENSP00000356912:p.Ser200Arg	NA	Q6X961|Q8NEC3	37	CCDS1238.1	.	.	.	.	.	.	.	.	.	.	T	18.54	3.646307	0.67358	.	.	ENSG00000171722	ENST00000367935	T	0.31510	1.49	5.14	4.02	0.46733	.	0.141394	0.50627	D	0.000109	T	0.31979	0.0814	M	0.72118	2.19	0.29686	N	0.84129	D	0.55385	0.971	P	0.58454	0.839	T	0.26780	-1.0093	9	0.46703	T	0.11	-30.4254	8.3206	0.32126	0.0:0.0907:0.0:0.9093	.	200	Q5T0L3	CA111_HUMAN	R	200	ENSP00000356912:S200R	ENSP00000356912:S200R	S	-	1	0	C1orf111	160610650	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	1.535000	0.36061	0.811000	0.34303	0.533000	0.62120	AGC	C1orf111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076791.2		-	ENST00000367935.5	Missense_Mutation	SNP	1 : 162344026 - 162344026 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1030	256
MLC1	23209	broad.mit.edu	37	22	50502477	50502477	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50502477G>A	ENST00000311597.5	-	11	1651	c.1045C>T	c.(1045-1047)Cgc>Tgc	p.R349C	MLC1_ENST00000395876.2_Missense_Mutation_p.R349C|MLC1_ENST00000538737.1_Missense_Mutation_p.R315C|MLC1_ENST00000431262.2_Missense_Mutation_p.R319C|MLC1_ENST00000535444.1_Missense_Mutation_p.R270C|MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000450140.2_Missense_Mutation_p.R297C	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	349						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		CCAGCCAGGCGCTCCTGCGGG	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	27	27			NA	NA	22		NA											NA				50502477		2199	4299	6498	SO:0001583	missense			D25217	CCDS14083.1	22q13.33	2007-03-20			ENSG00000100427	ENSG00000100427	23209	23209			17082	protein-coding gene	gene with protein product		605908			NA	7584026, 7584028	Standard	NM_015166	XR_430476	NA	Approved	MLC, KIAA0027, LVM, VL	uc003bjg.1	Q15049	OTTHUMG00000150236	ENST00000311597.5:c.1045C>T	22.37:g.50502477G>A	ENSP00000310375:p.Arg349Cys	NA	B3KW61|Q5JZ83|Q8TAG4|Q96RP5|Q9UGY8	37	CCDS14083.1	.	.	.	.	.	.	.	.	.	.	g	9.300	1.052744	0.19907	.	.	ENSG00000100427	ENST00000395876;ENST00000311597;ENST00000538737;ENST00000431262;ENST00000535444;ENST00000450140	D;D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98;-2.98	3.83	1.72	0.24424	.	0.710008	0.14560	N	0.312126	D	0.87006	0.6070	L	0.51422	1.61	0.09310	N	0.999999	B;B;B;B	0.15473	0.005;0.013;0.01;0.013	B;B;B;B	0.08055	0.002;0.003;0.003;0.003	T	0.78497	-0.2181	10	0.56958	D	0.05	-10.447	5.3505	0.16034	0.259:0.0:0.741:0.0	.	315;319;297;349	F5H1B9;B7Z659;B7Z1X1;Q15049	.;.;.;MLC1_HUMAN	C	349;349;315;319;270;297	ENSP00000379216:R349C;ENSP00000310375:R349C;ENSP00000445805:R315C;ENSP00000415877:R319C;ENSP00000438910:R270C;ENSP00000412448:R297C	ENSP00000310375:R349C	R	-	1	0	MLC1	48844604	0.392000	0.25229	0.028000	0.17463	0.031000	0.12232	1.399000	0.34566	0.897000	0.36392	0.550000	0.68814	CGC	MLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316979.2		-	ENST00000311597.5	Missense_Mutation	SNP	22 : 50502477 - 50502477 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	202	33
NYX	60506	broad.mit.edu	37	X	41333654	41333654	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41333654G>A	ENST00000342595.2	+	2	1404	c.948G>A	c.(946-948)gtG>gtA	p.V316V	NYX_ENST00000378220.1_Silent_p.V316V	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	316					response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						GCCTCACCGTGCTCGCCTGGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	41	42			NA	NA	X		NA											NA				41333654		2203	4299	6502	SO:0001819	synonymous_variant			AF254868	CCDS14256.1	Xp11.4	2014-01-28			ENSG00000188937	ENSG00000188937	60506	60506			8082	protein-coding gene	gene with protein product		300278		CSNB1, CSNB4	NA	11062471, 11062472	Standard	NM_022567	NM_022567	NA	Approved	CLRP, CSNB1A	uc004dfh.2	Q9GZU5	OTTHUMG00000021370	ENST00000342595.2:c.948G>A	X.37:g.41333654G>A		NA	D3DWC0|Q2M1S4|Q5H983|Q9H4J0	37	CCDS14256.1																																																																																			NYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056256.1		+	ENST00000342595.2	Silent	SNP	X : 41333654 - 41333654 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	293	105
KERA	11081	broad.mit.edu	37	12	91449713	91449713	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91449713C>T	ENST00000266719.3	-	2	593	c.346G>A	c.(346-348)Gcc>Acc	p.A116T		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	116					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TGGCTTAGGGCTCCTTTTTCA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	127	129			NA	NA	12		NA											NA				91449713		2203	4299	6502	SO:0001583	missense			AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330	11081	11081		Proteoglycans / Extracellular Matrix : Small leucine-rich repeats	6309	protein-coding gene	gene with protein product	keratocan proteoglycan	603288		CNA2	NA	10565548, 10802664	Standard	NM_007035	NM_007035	NA	Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.346G>A	12.37:g.91449713C>T	ENSP00000266719:p.Ala116Thr	NA		37	CCDS9037.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265624	0.80358	.	.	ENSG00000139330	ENST00000266719	T	0.60299	0.2	5.85	5.85	0.93711	.	0.224880	0.48286	D	0.000191	T	0.57548	0.2061	L	0.37750	1.13	0.41250	D	0.986709	P	0.37688	0.605	P	0.45660	0.489	T	0.56300	-0.8002	10	0.42905	T	0.14	-8.7596	15.6933	0.77473	0.0:0.8639:0.1361:0.0	.	116	O60938	KERA_HUMAN	T	116	ENSP00000266719:A116T	ENSP00000266719:A116T	A	-	1	0	KERA	89973844	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.561000	0.60809	2.789000	0.95967	0.650000	0.86243	GCC	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407149.2		-	ENST00000266719.3	Missense_Mutation	SNP	12 : 91449713 - 91449713 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	699	109
MYRIP	25924	broad.mit.edu	37	3	40275428	40275428	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40275428G>T	ENST00000302541.6	+	12	2326	c.1984G>T	c.(1984-1986)Gga>Tga	p.G662*	MYRIP_ENST00000425621.1_Intron|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000444716.1_Nonsense_Mutation_p.G662*|MYRIP_ENST00000396217.3_Nonsense_Mutation_p.G573*|MYRIP_ENST00000539167.1_Nonsense_Mutation_p.G475*	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	662	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GTTGATAGCAGGATCTACAGG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	78	79			NA	NA	3		NA											NA				40275428		2203	4300	6503	SO:0001587	stop_gained			AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011	25924	25924		A-kinase anchor proteins	19156	protein-coding gene	gene with protein product	synaptotagmin-like protein homologue lacking C2 domains-c, rab effector MYRIP, Slp homologue lacking C2 domains	611790			NA	11964381, 12221080	Standard	NM_015460	NM_001284425	NA	Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1984G>T	3.37:g.40275428G>T	ENSP00000301972:p.Gly662*	NA	Q569F7|Q8IUF5|Q9Y3V4	37	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	G	42	9.731632	0.99249	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000396217;ENST00000539167	.	.	.	5.79	5.79	0.91817	.	0.056069	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5338	0.87822	0.0:0.0:1.0:0.0	.	.	.	.	X	662;662;573;475	.	.	G	+	1	0	MYRIP	40250432	1.000000	0.71417	0.870000	0.34147	0.944000	0.59088	6.649000	0.74364	2.733000	0.93635	0.655000	0.94253	GGA	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254181.2		+	ENST00000302541.6	Nonsense_Mutation	SNP	3 : 40275428 - 40275428 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	350	35
TCF20	6942	broad.mit.edu	37	22	42609955	42609955	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42609955A>G	ENST00000359486.3	-	1	1493	c.1357T>C	c.(1357-1359)Ttg>Ctg	p.L453L	TCF20_ENST00000335626.4_Silent_p.L453L	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						AAACTACTCAACCCAGGATCT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	100	99			NA	NA	22		NA											NA				42609955		2203	4300	6503	SO:0001819	synonymous_variant			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207	6942	6942			11631	protein-coding gene	gene with protein product	stromelysin-1 platelet-derived growth factor-responsive element binding protein	603107			NA	9730594, 10995766	Standard	NM_181492	NM_005650	NA	Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.1357T>C	22.37:g.42609955A>G		NA	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	37	CCDS14033.1																																																																																			TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320531.1		-	ENST00000359486.3	Silent	SNP	22 : 42609955 - 42609955 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	621	43
MBTD1	54799	broad.mit.edu	37	17	49272664	49272664	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:49272664G>T	ENST00000586178.1	-	13	1626	c.1283C>A	c.(1282-1284)tCt>tAt	p.S428Y	MBTD1_ENST00000376381.2_Intron|MBTD1_ENST00000415868.1_Missense_Mutation_p.S428Y	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	428					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			GAACCAGTCAGATCCGTCTGC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	99	105			NA	NA	17		NA											NA				49272664		2203	4300	6503	SO:0001583	missense			AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258	NA	54799			19866	protein-coding gene	gene with protein product					NA		Standard		NM_017643	NA	Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.1283C>A	17.37:g.49272664G>T	ENSP00000468304:p.Ser428Tyr	NA	Q6ZVU7|Q9NXU1	37	CCDS11581.2	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997708	0.93227	.	.	ENSG00000011258	ENST00000405860;ENST00000415868	T	0.47177	0.85	5.36	5.36	0.76844	.	0.124037	0.64402	D	0.000020	T	0.64724	0.2624	L	0.48260	1.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.988	T	0.64558	-0.6379	10	0.56958	D	0.05	.	19.4315	0.94772	0.0:0.0:1.0:0.0	.	428;264	Q05BQ5;Q05BQ5-3	MBTD1_HUMAN;.	Y	428	ENSP00000403946:S428Y	ENSP00000386072:S428Y	S	-	2	0	MBTD1	46627663	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.804000	0.99143	2.665000	0.90641	0.643000	0.83706	TCT	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318124.1		-	ENST00000586178.1	Missense_Mutation	SNP	17 : 49272664 - 49272664 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	388	32
ZSCAN31	64288	broad.mit.edu	37	6	28297300	28297300	+	Missense_Mutation	SNP	C	C	T	rs150660211		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28297300C>T	ENST00000414429.1	-	6	1064	c.161G>A	c.(160-162)cGa>cAa	p.R54Q	ZSCAN31_ENST00000439158.1_Missense_Mutation_p.R54Q|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.R54Q|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.R54Q|ZSCAN31_ENST00000446474.1_Intron					zinc finger and SCAN domain containing 31	NA											NA						CAGAGCTTCTCGGGGACCAGG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	113	126	121		161,161,161,161	1.9	0	6	dbSNP_134	121	0,8600		0,0,4300	no	missense,missense,missense,missense	ZNF323	NM_001135215.1,NM_001135216.1,NM_030899.4,NM_145909.2	43,43,43,43	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	54/407,54/407,54/407,54/407	28297300	1,13005	2203	4300	6503	SO:0001583	missense				CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109	64288	64288		-, Zinc fingers, C2H2-type	14097	protein-coding gene	gene with protein product		610794	zinc finger protein 310 pseudogene, zinc finger protein 323	ZNF310P, ZNF323	NA		Standard	NM_030899	NM_001135216	NA	Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.161G>A	6.37:g.28297300C>T	ENSP00000390076:p.Arg54Gln	NA		37	CCDS4649.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466873	0.63625	2.27E-4	0.0	ENSG00000235109	ENST00000396838;ENST00000439158;ENST00000414429;ENST00000344279;ENST00000453745;ENST00000439636;ENST00000447021;ENST00000426756;ENST00000446222;ENST00000434036	T;T;T;T;T;T;T;T;T;T	0.04809	3.55;3.55;3.55;3.55;3.55;3.55;3.55;3.55;3.55;3.55	4.71	1.91	0.25777	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.02649	0.0080	M	0.84773	2.715	0.09310	N	1	B	0.34226	0.443	B	0.22386	0.039	T	0.29852	-0.9998	9	0.42905	T	0.14	.	8.6922	0.34273	0.0:0.7386:0.0:0.2614	.	54	Q96LW9	ZN323_HUMAN	Q	54	ENSP00000380050:R54Q;ENSP00000413705:R54Q;ENSP00000390076:R54Q;ENSP00000345339:R54Q;ENSP00000389479:R54Q;ENSP00000412519:R54Q;ENSP00000416108:R54Q;ENSP00000406376:R54Q;ENSP00000411033:R54Q;ENSP00000416225:R54Q	ENSP00000345339:R54Q	R	-	2	0	ZNF323	28405279	0.000000	0.05858	0.005000	0.12908	0.990000	0.78478	0.023000	0.13533	0.524000	0.28502	-0.253000	0.11424	CGA	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346804.1		-	ENST00000414429.1	Missense_Mutation	SNP	6 : 28297300 - 28297300 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1195	210
CLK1	1195	broad.mit.edu	37	2	201722711	201722711	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201722711T>C	ENST00000434813.2	-	6	1110	c.776A>G	c.(775-777)gAc>gGc	p.D259G	CLK1_ENST00000409769.2_Missense_Mutation_p.D40G|CLK1_ENST00000321356.4_Missense_Mutation_p.D217G	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	217	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						ACTGTTGGGGTCTGTTGTATT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	152	153			NA	NA	2		NA											NA				201722711		2203	4300	6503	SO:0001583	missense			L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441	1195	1195		CDC-like kinases	2068	protein-coding gene	gene with protein product		601951			NA	9856501	Standard		NM_004071	NA	Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000434813.2:c.776A>G	2.37:g.201722711T>C	ENSP00000394734:p.Asp259Gly	NA	Q0P694|Q8N5V8	37	CCDS54427.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.978869	0.74360	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	T;T;T	0.64085	-0.08;-0.08;-0.08	5.41	5.41	0.78517	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73953	0.3653	L	0.48935	1.535	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;0.998;0.998;1.0	T	0.76680	-0.2870	10	0.87932	D	0	.	15.4044	0.74866	0.0:0.0:0.0:1.0	.	259;187;217;40	B4DFW7;E9PH13;P49759;B8ZZR0	.;.;CLK1_HUMAN;.	G	217;187;40;259	ENSP00000326830:D217G;ENSP00000386358:D40G;ENSP00000394734:D259G	ENSP00000326830:D217G	D	-	2	0	CLK1	201430956	1.000000	0.71417	1.000000	0.80357	0.555000	0.35460	7.997000	0.88414	2.178000	0.69098	0.460000	0.39030	GAC	CLK1-007	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336140.1		-	ENST00000434813.2	Missense_Mutation	SNP	2 : 201722711 - 201722711 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	598	83
GLB1L	79411	broad.mit.edu	37	2	220107551	220107551	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220107551G>T	ENST00000295759.7	-	4	642	c.329C>A	c.(328-330)gCt>gAt	p.A110D	GLB1L_ENST00000409640.1_Missense_Mutation_p.A110D|GLB1L_ENST00000356283.3_Missense_Mutation_p.A110D|GLB1L_ENST00000392089.2_Missense_Mutation_p.A110D			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	110					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTTCGCTAGAGCTGCCTCATT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	111	110			NA	NA	2		NA											NA				220107551		2203	4300	6503	SO:0001583	missense				CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521	79411	79411			28129	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_024506	XM_005246850	NA	Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.329C>A	2.37:g.220107551G>T	ENSP00000295759:p.Ala110Asp	NA	Q96DR0	37	CCDS2437.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.28|10.28	1.307833|1.307833	0.23821|0.23821	.|.	.|.	ENSG00000163521|ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283;ENST00000428427|ENST00000440853	D;D;D;D;D|.	0.98044|.	-4.68;-4.68;-4.68;-4.68;-4.68|.	6.17|6.17	5.28|5.28	0.74379|0.74379	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);|.	0.431035|.	0.27048|.	N|.	0.021181|.	T|T	0.45094|0.45094	0.1325|0.1325	L|L	0.45285|0.45285	1.41|1.41	0.09310|0.09310	N|N	1|1	B;B|.	0.31548|.	0.328;0.004|.	B;B|.	0.27380|.	0.079;0.009|.	T|T	0.34850|0.34850	-0.9812|-0.9812	10|5	0.30854|.	T|.	0.27|.	0.3606|0.3606	14.0998|14.0998	0.65046|0.65046	0.0:0.0:0.6995:0.3005|0.0:0.0:0.6995:0.3005	.|.	110;110|.	Q6UWU2-2;Q6UWU2|.	.;GLB1L_HUMAN|.	D|I	110|43	ENSP00000295759:A110D;ENSP00000386354:A110D;ENSP00000375939:A110D;ENSP00000348628:A110D;ENSP00000400738:A110D|.	ENSP00000295759:A110D|.	A|L	-|-	2|1	0|0	GLB1L|GLB1L	219815795|219815795	0.338000|0.338000	0.24775|0.24775	0.057000|0.057000	0.19452|0.19452	0.869000|0.869000	0.49853|0.49853	3.374000|3.374000	0.52402|0.52402	1.564000|1.564000	0.49628|0.49628	0.655000|0.655000	0.94253|0.94253	GCT|CTC	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256822.2		-	ENST00000295759.7	Missense_Mutation	SNP	2 : 220107551 - 220107551 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	610	152
MAP3K1	4214	broad.mit.edu	37	5	56177726	56177726	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56177726G>T	ENST00000399503.3	+	14	2699	c.2699G>T	c.(2698-2700)aGt>aTt	p.S900I		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	900				DGQQDSFLQASVPNNYLETTENSSP -> QRQQHNSFCRHL FPTTIWKPQRTVPL (in Ref. 2; AAC97073).	cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ACAGAGAACAGTTCCCCTGAG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	65	66			NA	NA	5		NA											NA				56177726		1922	4134	6056	SO:0001583	missense			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015	4214	4214		Mitogen-activated protein kinase cascade / Kinase kinase kinases	6848	protein-coding gene	gene with protein product		600982	mitogen-activated protein kinase kinase kinase 1	MEKK1	NA	8597633	Standard	XM_042066	NM_005921	NA	Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2699G>T	5.37:g.56177726G>T	ENSP00000382423:p.Ser900Ile	NA		37	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	G	1.443	-0.567040	0.03910	.	.	ENSG00000095015	ENST00000399503	T	0.35048	1.33	5.21	1.89	0.25635	.	1.227700	0.06049	N	0.656229	T	0.24431	0.0592	L	0.29908	0.895	0.09310	N	1	B	0.33448	0.412	B	0.30855	0.121	T	0.29088	-1.0023	10	0.52906	T	0.07	.	2.8169	0.05458	0.3889:0.236:0.375:0.0	.	900	Q13233	M3K1_HUMAN	I	900	ENSP00000382423:S900I	ENSP00000382423:S900I	S	+	2	0	MAP3K1	56213483	0.987000	0.35691	0.002000	0.10522	0.001000	0.01503	2.621000	0.46418	0.688000	0.31529	-0.126000	0.14955	AGT	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132309.2		+	ENST00000399503.3	Missense_Mutation	SNP	5 : 56177726 - 56177726 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	68
ZNF443	10224	broad.mit.edu	37	19	12542335	12542335	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12542335T>G	ENST00000301547.5	-	4	848	c.651A>C	c.(649-651)agA>agC	p.R217S	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	217					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						CAGTGTGCGTTCTTTCATGCA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	125	125			NA	NA	19		NA											NA				12542335		2203	4299	6502	SO:0001583	missense			AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855	10224	10224		Zinc fingers, C2H2-type, -	20878	protein-coding gene	gene with protein product		606697			NA	9731181	Standard	NM_005815	NM_005815	NA	Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.651A>C	19.37:g.12542335T>G	ENSP00000301547:p.Arg217Ser	NA		37	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	T	17.94	3.510590	0.64522	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.24151	1.87	1.37	0.313	0.15842	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41488	0.1161	M	0.64676	1.99	0.21802	N	0.99954	D	0.89917	1.0	D	0.85130	0.997	T	0.16129	-1.0413	9	0.56958	D	0.05	.	5.5417	0.17041	0.0:0.1681:0.0:0.8319	.	217	Q9Y2A4	ZN443_HUMAN	S	217	ENSP00000301547:R217S	ENSP00000301547:R217S	R	-	3	2	ZNF443	12403335	0.000000	0.05858	0.016000	0.15963	0.662000	0.39071	-1.840000	0.01684	0.046000	0.15833	0.378000	0.23410	AGA	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344084.1		-	ENST00000301547.5	Missense_Mutation	SNP	19 : 12542335 - 12542335 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	975	178
SCN2B	6327	broad.mit.edu	37	11	118038968	118038968	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118038968G>A	ENST00000278947.5	-	3	521	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	94	Ig-like C2-type.				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		TCTTGAAACCGCTCCAGCTTC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	75	80			NA	NA	11		NA											NA				118038968		2200	4296	6496	SO:0001583	missense			AY358945	CCDS8390.1	11q23.3	2013-09-19	2012-02-28		ENSG00000149575	ENSG00000149575	6327	6327		Sodium channels, Voltage-gated ion channels / Sodium channels, Immunoglobulin superfamily / V-set domain containing	10589	protein-coding gene	gene with protein product		601327	sodium channel, voltage-gated, type II, beta polypeptide, sodium channel, voltage-gated, type II, beta		NA	10198179	Standard	NM_004588	NM_004588	NA	Approved		uc001psf.2	O60939	OTTHUMG00000048248	ENST00000278947.5:c.280C>T	11.37:g.118038968G>A	ENSP00000278947:p.Arg94Trp	NA	O75302|Q9UNN3	37	CCDS8390.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290144	0.80914	.	.	ENSG00000149575	ENST00000278947	T	0.68181	-0.31	4.9	1.91	0.25777	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.174836	0.51477	D	0.000083	T	0.77412	0.4126	M	0.80616	2.505	0.58432	D	0.999999	D	0.71674	0.998	P	0.57502	0.822	T	0.79600	-0.1736	10	0.62326	D	0.03	-27.973	13.5706	0.61845	0.0:0.0:0.5934:0.4066	.	94	O60939	SCN2B_HUMAN	W	94	ENSP00000278947:R94W	ENSP00000278947:R94W	R	-	1	2	SCN2B	117544178	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	5.036000	0.64164	0.237000	0.21200	-0.169000	0.13324	CGG	SCN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109748.2		-	ENST00000278947.5	Missense_Mutation	SNP	11 : 118038968 - 118038968 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	346	30
CT47B1	643311	broad.mit.edu	37	X	120009228	120009228	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:120009228C>A	ENST00000371311.3	-	1	551	c.297G>T	c.(295-297)gaG>gaT	p.E99D		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	99	Poly-Glu.									breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						cctcgttcccctcttcctcct	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	64	62			NA	NA	X		NA											NA				120009228		692	1590	2282	SO:0001583	missense				CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446	643311	643311			33293	protein-coding gene	gene with protein product	cancer/testis CT47 family, member 13	300790			NA	16382448	Standard	NM_001145718	NM_001145718	NA	Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.297G>T	X.37:g.120009228C>A	ENSP00000360360:p.Glu99Asp	NA	A6NM97	37	CCDS48161.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.654063	0.29425	.	.	ENSG00000236446	ENST00000371311	.	.	.	0.149	0.149	0.14863	.	.	.	.	.	T	0.33731	0.0873	N	0.14661	0.345	0.09310	N	1	P	0.49696	0.927	D	0.67725	0.953	T	0.29518	-1.0009	7	0.18276	T	0.48	.	.	.	.	.	99	P0C2W7	CT47B_HUMAN	D	99	.	ENSP00000360360:E99D	E	-	3	2	CT47B1	119893256	0.000000	0.05858	0.004000	0.12327	0.015000	0.08874	-3.375000	0.00493	0.177000	0.19895	0.179000	0.17066	GAG	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058121.1		-	ENST00000371311.3	Missense_Mutation	SNP	X : 120009228 - 120009228 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	145	34
CRLF1	9244	broad.mit.edu	37	19	18710412	18710412	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18710412G>A	ENST00000392386.3	-	2	553	c.360C>T	c.(358-360)gaC>gaT	p.D120D		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	120	Ig-like C2-type.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						GGATGCTGCCGTCACGGGCGT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	35	34			NA	NA	19		NA											NA				18710412		2202	4300	6502	SO:0001819	synonymous_variant			AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016	9244	9244		Fibronectin type III domain containing	2364	protein-coding gene	gene with protein product	cold-induced sweating syndrome	604237			NA	9686600	Standard		NM_004750	NA	Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.360C>T	19.37:g.18710412G>A		NA	Q9UHH5	37	CCDS32962.1																																																																																			CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465129.1		-	ENST00000392386.3	Silent	SNP	19 : 18710412 - 18710412 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	78
C16orf71	146562	broad.mit.edu	37	16	4786573	4786573	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4786573A>C	ENST00000590191.1	+	2	328	c.58A>C	c.(58-60)Atg>Ctg	p.M20L	RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000299320.5_Missense_Mutation_p.M20L			Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	20										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						GGCCTCCCAGATGGGGCCCTG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	66	66			NA	NA	16		NA											NA				4786573		2197	4300	6497	SO:0001583	missense			AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246	146562	146562			25081	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_139170	XM_005255144	NA	Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000590191.1:c.58A>C	16.37:g.4786573A>C	ENSP00000467565:p.Met20Leu	NA	Q8NCV0	37		.	.	.	.	.	.	.	.	.	.	A	0.067	-1.209884	0.01555	.	.	ENSG00000166246	ENST00000299320	T	0.11604	2.76	1.47	0.336	0.15958	.	0.941963	0.08679	U	0.909651	T	0.07098	0.0180	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.43426	-0.9392	10	0.25106	T	0.35	.	4.0857	0.09947	0.5859:0.0:0.4141:0.0	.	20	Q8IYS4	CP071_HUMAN	L	20	ENSP00000299320:M20L	ENSP00000299320:M20L	M	+	1	0	C16orf71	4726574	0.005000	0.15991	0.126000	0.21872	0.014000	0.08584	0.408000	0.21065	0.079000	0.16929	-0.441000	0.05720	ATG	C16orf71-006	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000460400.1		+	ENST00000590191.1	Missense_Mutation	SNP	16 : 4786573 - 4786573 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	424	86
ZNF221	7638	broad.mit.edu	37	19	44470613	44470613	+	Missense_Mutation	SNP	G	G	A	rs140615014		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44470613G>A	ENST00000251269.5	+	6	1287	c.959G>A	c.(958-960)cGt>cAt	p.R320H	ZNF221_ENST00000592350.1_Missense_Mutation_p.R320H|ZNF221_ENST00000587682.1_Missense_Mutation_p.R320H	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				AAGAGCTTCCGTGTTAGATCA	0.413		NA											g	2	9e-04	0.002	0.0028	2184	NA	0.9999	,	,	NA	2e-04	NA	NA	NA	9e-04	0.9499	LOWCOV	NA	NA	6e-04	SNP								NA				0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	165	164	164		959	-1.7	0	19	dbSNP_134	164	0,8600		0,0,4300	yes	missense	ZNF221	NM_013359.2	29	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	benign	320/618	44470613	1,13005	2203	4300	6503	SO:0001583	missense			AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905	7638	7638		Zinc fingers, C2H2-type, -	13014	protein-coding gene	gene with protein product					NA		Standard		NM_013359	NA	Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.959G>A	19.37:g.44470613G>A	ENSP00000251269:p.Arg320His	NA	B2RAI6|Q2M2H2|Q9P1U8	37	CCDS12633.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	g	11.78	1.740126	0.30865	2.27E-4	0.0	ENSG00000159905	ENST00000251269	T	0.07567	3.18	2.59	-1.74	0.08056	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04815	0.0130	N	0.21617	0.685	0.09310	N	1	B	0.17268	0.021	B	0.18263	0.021	T	0.43376	-0.9395	9	0.29301	T	0.29	.	4.6045	0.12371	0.2389:0.3438:0.4173:0.0	.	320	Q9UK13	ZN221_HUMAN	H	320	ENSP00000251269:R320H	ENSP00000251269:R320H	R	+	2	0	ZNF221	49162453	0.000000	0.05858	0.000000	0.03702	0.980000	0.70556	-0.269000	0.08596	-0.021000	0.14009	0.462000	0.41574	CGT	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460068.1		+	ENST00000251269.5	Missense_Mutation	SNP	19 : 44470613 - 44470613 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	787	165
PRKAR1A	5573	broad.mit.edu	37	17	66538300	66538300	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66538300T>C	ENST00000588188.2	+	10	973				FAM20A_ENST00000592554.1_Missense_Mutation_p.N312S|FAM20A_ENST00000226094.5_5'UTR	NM_001276290.1	NP_001263219.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	NA					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					GAAGCACACGTTGCTCGCTGG	0.577		NA	T, Mis, N, F, S	RET	papillary thyroid	myxoma, endocrine, papillary thyroid			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(167;637 1670 33025 39608 46699 51856)	yes	Dom, Rec	yes	Carney complex	17	17q23-q24	5573	protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)		E, M	0													89	72	78			NA	NA	17		NA											NA				66538300		2203	4300	6503	SO:0001627	intron_variant	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	5573	5573	2.7.11.1		9388	protein-coding gene	gene with protein product	Carney complex type 1	188830	tissue specific extinguisher 1	PRKAR1, TSE1	NA	3479018, 10973256	Standard		NM_212471	NA	Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000588188.2:c.974-8925T>C	17.37:g.66538300T>C		NA	Q567S7	37		.	.	.	.	.	.	.	.	.	.	T	26.3	4.727269	0.89390	.	.	ENSG00000108950	ENST00000226094	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.83922	0.5359	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86128	0.1573	9	0.66056	D	0.02	-46.305	16.5885	0.84745	0.0:0.0:0.0:1.0	.	312	Q96MK3	FA20A_HUMAN	S	312	.	ENSP00000226094:N312S	N	-	2	0	FAM20A	64049895	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.698000	0.84413	2.317000	0.78254	0.460000	0.39030	AAC	PRKAR1A-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000449895.2		+	ENST00000588188.2	Intron	SNP	17 : 66538300 - 66538300 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	176	33
AHNAK	79026	broad.mit.edu	37	11	62285051	62285051	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62285051A>C	ENST00000378024.4	-	5	17112	c.16838T>G	c.(16837-16839)tTt>tGt	p.F5613C	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5613	Gly-rich.				nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCCCCCAGCAAACTTAGATGT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	133	127			NA	NA	11		NA											NA				62285051		2199	4297	6496	SO:0001583	missense			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942	79026	79026			347	protein-coding gene	gene with protein product	desmoyokin	103390	AHNAK nucleoprotein (desmoyokin)		NA	7987395, 12153988	Standard	NM_024060	NM_024060	NA	Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.16838T>G	11.37:g.62285051A>C	ENSP00000367263:p.Phe5613Cys	NA		37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	A	10.36	1.329771	0.24167	.	.	ENSG00000124942	ENST00000378024	T	0.00922	5.54	4.85	3.73	0.42828	.	0.956702	0.08511	U	0.934902	T	0.02267	0.0070	L	0.29908	0.895	0.09310	N	1	D	0.54047	0.964	P	0.60789	0.879	T	0.57470	-0.7806	10	0.41790	T	0.15	0.0	8.3362	0.32217	0.9051:0.0:0.0949:0.0	.	5613	Q09666	AHNK_HUMAN	C	5613	ENSP00000367263:F5613C	ENSP00000367263:F5613C	F	-	2	0	AHNAK	62041627	0.127000	0.22367	0.001000	0.08648	0.394000	0.30568	5.271000	0.65553	0.709000	0.31976	0.519000	0.50382	TTT	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395572.1		-	ENST00000378024.4	Missense_Mutation	SNP	11 : 62285051 - 62285051 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1083	226
CAPN5	726	broad.mit.edu	37	11	76796041	76796041	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76796041G>A	ENST00000456580.2	+	2	246	c.109G>A	c.(109-111)Gac>Aac	p.D37N	CAPN5_ENST00000529629.1_Missense_Mutation_p.D37N|CAPN5_ENST00000278559.3_Missense_Mutation_p.D37N|CAPN5_ENST00000531028.1_Missense_Mutation_p.D37N			O15484	CAN5_HUMAN	calpain 5	37	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CGCCACTGACGACTCACTCTA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	32	31			NA	NA	11		NA											NA				76796041		2200	4292	6492	SO:0001583	missense				CCDS8248.1	11q14	2014-01-29				ENSG00000149260	726	726			1482	protein-coding gene	gene with protein product		602537	vitreoretinopathy, neovascular inflammatory	VRNI	NA	9503024, 9367857, 23055945	Standard	NM_004055	NM_004055	NA	Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000456580.2:c.109G>A	11.37:g.76796041G>A	ENSP00000409996:p.Asp37Asn	NA	O00263	37		.	.	.	.	.	.	.	.	.	.	G	15.37	2.812369	0.50527	.	.	ENSG00000149260	ENST00000278559;ENST00000527066;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	T;T;T;T	0.16324	2.35;2.35;2.35;2.35	5.18	5.18	0.71444	Peptidase C2, calpain, catalytic domain (3);	0.173178	0.48767	D	0.000164	T	0.23766	0.0575	L	0.52126	1.63	0.58432	D	0.999998	D;B;B;D	0.54601	0.967;0.283;0.269;0.967	P;B;B;P	0.46940	0.532;0.03;0.067;0.454	T	0.00981	-1.1492	10	0.54805	T	0.06	.	16.1934	0.82006	0.0:0.0:1.0:0.0	.	75;37;77;37	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	N	37;37;77;37;37;37	ENSP00000278559:D37N;ENSP00000435894:D37N;ENSP00000432332:D37N;ENSP00000409996:D37N	ENSP00000278559:D37N	D	+	1	0	CAPN5	76473689	1.000000	0.71417	0.962000	0.40283	0.023000	0.10783	3.769000	0.55303	2.415000	0.81967	0.655000	0.94253	GAC	CAPN5-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000382568.1		+	ENST00000456580.2	Missense_Mutation	SNP	11 : 76796041 - 76796041 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	344	69
PLCD4	84812	broad.mit.edu	37	2	219497008	219497008	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219497008G>A	ENST00000432688.1	+	10	1664	c.1422G>A	c.(1420-1422)caG>caA	p.Q474Q	PLCD4_ENST00000450993.2_Silent_p.Q474Q|PLCD4_ENST00000417849.1_Silent_p.Q474Q			Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	474					intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCCAGGAGCAGAACCTTCAGA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	55	54			NA	NA	2		NA											NA				219497008		1946	4150	6096	SO:0001819	synonymous_variant			AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	84812	84812	3.1.4.11	EF-hand domain containing	9062	protein-coding gene	gene with protein product		605939			NA	10702683, 9056492	Standard		NM_032726	NA	Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000432688.1:c.1422G>A	2.37:g.219497008G>A		NA	Q53FS8	37																																																																																				PLCD4-007	NOVEL	non_canonical_conserved|not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000336882.1		+	ENST00000432688.1	Silent	SNP	2 : 219497008 - 219497008 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	107	36
TEX29	121793	broad.mit.edu	37	13	111992248	111992248	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111992248G>A	ENST00000283547.1	+	4	337	c.208G>A	c.(208-210)Gct>Act	p.A70T		NM_152324.1	NP_689537.1	Q8N6K0	CM016_HUMAN	testis expressed 29	70						integral to membrane					NA						TGTGATCATCGCTGGGGCCTT	0.493		NA											G	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	4e-04	0.95	EXOME	NA	NA	5e-04	SNP								NA				0													247	226	233			NA	NA	13		NA											NA				111992248		2203	4300	6503	SO:0001583	missense			BC029889	CCDS9522.1	13q34	2012-03-23	2012-02-07	2012-02-07	ENSG00000153495	ENSG00000153495	121793	121793			20370	protein-coding gene	gene with protein product			chromosome 13 open reading frame 16	C13orf16	NA		Standard	NM_152324	NM_152324	NA	Approved	bA474D23.1, MGC35169	uc001vsa.3	Q8N6K0	OTTHUMG00000017358	ENST00000283547.1:c.208G>A	13.37:g.111992248G>A	ENSP00000283547:p.Ala70Thr	NA		37	CCDS9522.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	9.952	1.220466	0.22457	.	.	ENSG00000153495	ENST00000283547	.	.	.	4.09	0.877	0.19145	.	0.428883	0.17297	N	0.179417	T	0.15046	0.0363	N	0.20986	0.625	0.09310	N	1	P	0.50272	0.933	B	0.40864	0.342	T	0.10776	-1.0615	9	0.37606	T	0.19	-17.0228	2.0528	0.03574	0.1164:0.1713:0.4865:0.2257	.	70	Q8N6K0	CM016_HUMAN	T	70	.	ENSP00000283547:A70T	A	+	1	0	C13orf16	110790249	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	0.274000	0.18680	0.404000	0.25506	0.563000	0.77884	GCT	TEX29-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045812.2		+	ENST00000283547.1	Missense_Mutation	SNP	13 : 111992248 - 111992248 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	950	162
MSX1	4487	broad.mit.edu	37	4	4864471	4864471	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:4864471G>A	ENST00000382723.4	+	2	747	c.513G>A	c.(511-513)acG>acA	p.T171T	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	165					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		AACACAAGACGAACCGTAAGC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	77	72			NA	NA	4		NA											NA				4864471		2198	4296	6494	SO:0001819	synonymous_variant			M97676	CCDS3378.2	4p16.2	2011-06-20	2006-11-21		ENSG00000163132	ENSG00000163132	4487	4487		Homeoboxes / ANTP class : NKL subclass	7391	protein-coding gene	gene with protein product		142983	msh (Drosophila) homeo box homolog 1 (formerly homeo box 7), msh homeobox homolog 1 (Drosophila)	HOX7	NA	1685479, 1973146	Standard		NM_002448	NA	Approved	HYD1, OFC5	uc003gif.3	P28360	OTTHUMG00000090335	ENST00000382723.4:c.513G>A	4.37:g.4864471G>A		NA	Q96NY4	37	CCDS3378.2																																																																																			MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206700.3		+	ENST00000382723.4	Silent	SNP	4 : 4864471 - 4864471 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1297	224
DEFA6	1671	broad.mit.edu	37	8	6783472	6783472	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6783472A>G	ENST00000297436.2	-	1	126	c.86T>C	c.(85-87)cTg>cCg	p.L29P		NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	defensin, alpha 6, Paneth cell-specific	29					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TTTTGCCTGCAGTGGATCATC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	53	57			NA	NA	8		NA											NA				6783472		2203	4300	6503	SO:0001583	missense			M98331	CCDS5960.1	8p23.1	2007-02-20			ENSG00000164822	ENSG00000164822	1671	1671		Defensins, alpha	2765	protein-coding gene	gene with protein product		600471			NA	8417977	Standard	NM_001926	NM_001926	NA	Approved	HD-6, DEF6	uc003wqt.3	Q01524	OTTHUMG00000149984	ENST00000297436.2:c.86T>C	8.37:g.6783472A>G	ENSP00000297436:p.Leu29Pro	NA		37	CCDS5960.1	.	.	.	.	.	.	.	.	.	.	.	9.823	1.186277	0.21870	.	.	ENSG00000164822	ENST00000297436	T	0.35973	1.28	0.559	0.559	0.17272	Defensin propeptide (1);	.	.	.	.	T	0.50718	0.1632	M	0.62016	1.91	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.34104	-0.9842	8	0.33940	T	0.23	.	.	.	.	.	29	Q01524	DEF6_HUMAN	P	29	ENSP00000297436:L29P	ENSP00000297436:L29P	L	-	2	0	DEFA6	6770882	0.008000	0.16893	0.003000	0.11579	0.003000	0.03518	0.349000	0.20055	0.469000	0.27268	0.459000	0.35465	CTG	DEFA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206739.1		-	ENST00000297436.2	Missense_Mutation	SNP	8 : 6783472 - 6783472 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	124	27
INSC	387755	broad.mit.edu	37	11	15212360	15212360	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:15212360G>T	ENST00000528567.1	+	5	766	c.693G>T	c.(691-693)aaG>aaT	p.K231N	INSC_ENST00000447214.2_3'UTR|INSC_ENST00000530161.1_Splice_Site_p.K231N|INSC_ENST00000424273.1_Splice_Site_p.K231N|INSC_ENST00000525218.1_Splice_Site_p.K231N|INSC_ENST00000379556.3_Splice_Site_p.K231N|INSC_ENST00000379554.3_Splice_Site_p.K278N	NM_001278315.1	NP_001265244.1	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	278					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TCATAGCCAAGGTGAGCTTCA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	82	81			NA	NA	11		NA											NA				15212360		1938	4147	6085	SO:0001630	splice_region_variant			AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487	387755	387755			33116	protein-coding gene	gene with protein product	inscuteable spindle orientation adaptor protein	610668			NA	16458856	Standard	NM_001031853	NM_001031853	NA	Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000528567.1:c.693+1G>T	11.37:g.15212360G>T		NA	Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	37		.	.	.	.	.	.	.	.	.	.	G	17.18	3.324135	0.60634	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000416761;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.50813	0.75;0.75;0.73;0.75;0.75;0.73	6.06	5.15	0.70609	Armadillo-like helical (1);Armadillo-type fold (1);	0.091772	0.85682	D	0.000000	T	0.53238	0.1784	L	0.55481	1.735	0.80722	D	1	P;D;P;P	0.57571	0.947;0.98;0.944;0.796	P;P;P;B	0.51101	0.659;0.646;0.646;0.281	T	0.57814	-0.7746	10	0.72032	D	0.01	-35.2374	12.7863	0.57507	0.0767:0.0:0.9233:0.0	.	266;231;231;278	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	N	278;231;231;266;231;231;231	ENSP00000368872:K278N;ENSP00000368874:K231N;ENSP00000389161:K231N;ENSP00000435022:K231N;ENSP00000436194:K231N;ENSP00000436113:K231N	ENSP00000368872:K278N	K	+	3	2	INSC	15168936	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.302000	0.72788	1.573000	0.49748	0.650000	0.86243	AAG	INSC-006	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000386592.1	Missense_Mutation	+	ENST00000528567.1	Splice_Site	SNP	11 : 15212360 - 15212360 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	557	112
CRELD1	78987	broad.mit.edu	37	3	9982689	9982689	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9982689G>A	ENST00000383811.3	+	5	1215	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	CRELD1_ENST00000452070.1_Missense_Mutation_p.A206T|CRELD1_ENST00000326434.5_Missense_Mutation_p.A206T|CRELD1_ENST00000397170.3_Missense_Mutation_p.A206T	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	206					cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						AGAACGCAACGCCAGCCATCT	0.642		NA											G	2	9e-04	NA	0.01	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	0.001	0.9547	EXOME	NA	NA	2e-04	SNP								NA				0													74	73	73			NA	NA	3		NA											NA				9982689		2203	4300	6503	SO:0001583	missense			AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703	78987	78987			14630	protein-coding gene	gene with protein product		607170	atrioventricular septal defect 2	AVSD2	NA	10922384, 12137942	Standard	NM_015513	NM_015513	NA	Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.616G>A	3.37:g.9982689G>A	ENSP00000373322:p.Ala206Thr	NA	A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	37	CCDS2593.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	12.35	1.911143	0.33721	.	.	ENSG00000163703	ENST00000397170;ENST00000383811;ENST00000452070;ENST00000326434	T;T;T;T	0.62364	0.14;0.14;0.14;0.03	5.33	-1.41	0.08941	EGF-like, laminin (1);Growth factor, receptor (1);	0.494060	0.20817	N	0.085124	T	0.22126	0.0533	N	0.05124	-0.11	0.21445	N	0.999681	B;B	0.18013	0.0;0.025	B;B	0.12837	0.0;0.008	T	0.09975	-1.0650	9	.	.	.	.	4.0109	0.09623	0.3124:0.0:0.4295:0.2581	.	206;206	Q96HD1;Q96HD1-2	CREL1_HUMAN;.	T	206	ENSP00000380355:A206T;ENSP00000373322:A206T;ENSP00000393643:A206T;ENSP00000321856:A206T	.	A	+	1	0	CRELD1	9957689	0.552000	0.26505	0.968000	0.41197	0.985000	0.73830	0.141000	0.16076	-0.034000	0.13713	0.561000	0.74099	GCC	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250533.1		+	ENST00000383811.3	Missense_Mutation	SNP	3 : 9982689 - 9982689 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	478	87
KALRN	8997	broad.mit.edu	37	3	124053224	124053224	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124053224T>C	ENST00000240874.3	+	9	1680	c.1523T>C	c.(1522-1524)cTg>cCg	p.L508P	KALRN_ENST00000360013.3_Missense_Mutation_p.L508P|KALRN_ENST00000460856.1_Missense_Mutation_p.L508P	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	508					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CACCAGGTGCTGGACGTGGTG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	83	83			NA	NA	3		NA											NA				124053224		2203	4300	6503	SO:0001583	missense			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145	8997	8997		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	4814	protein-coding gene	gene with protein product	serine/threonine kinase with Dbl and pleckstrin homology domains	604605	huntingtin-associated protein interacting protein (duo)	HAPIP	NA	9285789, 10023074	Standard	NM_003947	NM_001024660	NA	Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1523T>C	3.37:g.124053224T>C	ENSP00000240874:p.Leu508Pro	NA	A8MSI4|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	37	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.1|21.1	4.102396|4.102396	0.76983|0.76983	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|.	0.62105|.	0.05;0.05;0.05|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	0.000000|.	0.64402|.	D|.	0.000006|.	T|T	0.74574|0.74574	0.3734|0.3734	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.998;0.999|.	D;D;D|.	0.81914|.	0.961;0.995;0.983|.	T|T	0.75693|0.75693	-0.3229|-0.3229	10|5	0.48119|.	T|.	0.1|.	.|.	15.1227|15.1227	0.72457|0.72457	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	508;508;508|.	C9IZQ6;O60229;O60229-2|.	.;KALRN_HUMAN;.|.	P|R	508|486	ENSP00000418611:L508P;ENSP00000240874:L508P;ENSP00000353109:L508P|.	ENSP00000240874:L508P|.	L|W	+|+	2|1	0|0	KALRN|KALRN	125535914|125535914	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.719000|0.719000	0.41307|0.41307	7.825000|7.825000	0.86693|0.86693	2.209000|2.209000	0.71365|0.71365	0.533000|0.533000	0.62120|0.62120	CTG|TGG	KALRN-005	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258843.4		+	ENST00000240874.3	Missense_Mutation	SNP	3 : 124053224 - 124053224 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	675	108
ZFYVE16	9765	broad.mit.edu	37	5	79739023	79739023	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79739023C>T	ENST00000338008.5	+	5	2681	c.2501C>T	c.(2500-2502)cCt>cTt	p.P834L	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.P834L|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.P834L	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	834					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		ACTGTCCAGCCTCCTCAGGAG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(150;1452 1854 16018 17851 37292)							NA				0													112	103	106			NA	NA	5		NA											NA				79739023		2203	4300	6503	SO:0001583	missense			AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319	9765	9765		Zinc fingers, FYVE domain containing, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	20756	protein-coding gene	gene with protein product	endofin, protein phosphatase 1, regulatory subunit 69	608880			NA	11546807	Standard	NM_014733	NM_014733	NA	Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.2501C>T	5.37:g.79739023C>T	ENSP00000337159:p.Pro834Leu	NA	O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	37	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.506311	0.26949	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.49720	0.77;0.77;0.77	5.49	3.65	0.41850	.	0.232813	0.30356	N	0.009813	T	0.50531	0.1621	M	0.81497	2.545	0.58432	D	0.99999	B	0.23854	0.092	B	0.27262	0.078	T	0.56068	-0.8040	10	0.66056	D	0.02	-4.4467	10.7346	0.46117	0.0:0.7961:0.1318:0.0721	.	834	Q7Z3T8	ZFY16_HUMAN	L	834	ENSP00000337159:P834L;ENSP00000423663:P834L;ENSP00000426848:P834L	ENSP00000337159:P834L	P	+	2	0	ZFYVE16	79774779	1.000000	0.71417	0.841000	0.33234	0.009000	0.06853	3.530000	0.53539	1.334000	0.45468	0.650000	0.86243	CCT	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226982.2		+	ENST00000338008.5	Missense_Mutation	SNP	5 : 79739023 - 79739023 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	39
GRPR	2925	broad.mit.edu	37	X	16168591	16168591	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:16168591T>G	ENST00000380289.2	+	2	975	c.577T>G	c.(577-579)Ttc>Gtc	p.F193V		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	193					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CAACCAGACCTTCATTAGCTG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													228	170	190			NA	NA	X		NA											NA				16168591		2203	4300	6503	SO:0001583	missense				CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010	2925	2925		GPCR / Class A : Bombesin receptors	4609	protein-coding gene	gene with protein product	bombesin receptor 2	305670			NA		Standard	NM_005314	NM_005314	NA	Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.577T>G	X.37:g.16168591T>G	ENSP00000369643:p.Phe193Val	NA	B2R910	37	CCDS14174.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.822558	0.90873	.	.	ENSG00000126010	ENST00000380289	T	0.70516	-0.49	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.71151	0.3306	L	0.38649	1.16	0.58432	D	0.999999	P	0.51240	0.943	P	0.54026	0.74	T	0.69258	-0.5192	10	0.30854	T	0.27	-31.2772	13.8099	0.63256	0.0:0.0:0.0:1.0	.	193	P30550	GRPR_HUMAN	V	193	ENSP00000369643:F193V	ENSP00000369643:F193V	F	+	1	0	GRPR	16078512	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	1.857000	0.53885	0.486000	0.48141	TTC	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055901.1		+	ENST00000380289.2	Missense_Mutation	SNP	X : 16168591 - 16168591 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	514	175
EZH2	2146	broad.mit.edu	37	7	148507481	148507481	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148507481C>A	ENST00000320356.2	-	17	2094	c.1973G>T	c.(1972-1974)aGa>aTa	p.R658I	EZH2_ENST00000460911.1_Missense_Mutation_p.R653I|EZH2_ENST00000476773.1_Missense_Mutation_p.R602I|EZH2_ENST00000541220.1_Missense_Mutation_p.R602I|EZH2_ENST00000350995.2_Missense_Mutation_p.R614I|EZH2_ENST00000478654.1_Missense_Mutation_p.R602I|EZH2_ENST00000483967.1_Missense_Mutation_p.R644I	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	653	SET.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TTTCCCTCTTCTGTCAGCTTC	0.398		NA	Mis		DLBCL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	0													90	78	82			NA	NA	7		NA											NA				148507481		2202	4300	6502	SO:0001583	missense				CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462	2146	2146		Chromatin-modifying enzymes / K-methyltransferases	3527	protein-coding gene	gene with protein product		601573	enhancer of zeste (Drosophila) homolog 2, enhancer of zeste homolog 2 (Drosophila)		NA	8954776, 17172412	Standard	NM_004456	NM_152998	NA	Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000320356.2:c.1973G>T	7.37:g.148507481C>A	ENSP00000320147:p.Arg658Ile	NA	B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q92857|Q96FI6	37	CCDS5891.1	.	.	.	.	.	.	.	.	.	.	c	33	5.285424	0.95517	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	D;T;T;T;D;D;T	0.81739	-1.53;-1.31;-1.31;-1.31;-1.53;-1.53;-1.31	5.45	5.45	0.79879	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.90246	0.6950	M	0.79011	2.435	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.997	D	0.91099	0.4913	10	0.87932	D	0	.	19.3079	0.94171	0.0:1.0:0.0:0.0	.	644;602;653;614;658	Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;EZH2_HUMAN;.;.	I	602;658;653;614;602;602;644	ENSP00000417062:R602I;ENSP00000320147:R658I;ENSP00000419711:R653I;ENSP00000223193:R614I;ENSP00000443219:R602I;ENSP00000419050:R602I;ENSP00000419856:R644I	ENSP00000320147:R658I	R	-	2	0	EZH2	148138414	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.574000	0.82434	2.550000	0.86006	0.655000	0.94253	AGA	EZH2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352740.1		-	ENST00000320356.2	Missense_Mutation	SNP	7 : 148507481 - 148507481 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	283	46
APOB	338	broad.mit.edu	37	2	21233266	21233266	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21233266A>G	ENST00000233242.1	-	26	6601	c.6474T>C	c.(6472-6474)atT>atC	p.I2158I		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2158	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CATCTAATGCAATTTGTATAT	0.299		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	2		NA											NA				21233266		2203	4300	6503	SO:0001819	synonymous_variant			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674	338	338		Apolipoproteins	603	protein-coding gene	gene with protein product		107730	apolipoprotein B (including Ag(x) antigen)		NA		Standard		NM_000384	NA	Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6474T>C	2.37:g.21233266A>G		NA	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	37	CCDS1703.1																																																																																			APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207571.1		-	ENST00000233242.1	Silent	SNP	2 : 21233266 - 21233266 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	116	32
KATNAL1	84056	broad.mit.edu	37	13	30815139	30815139	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:30815139C>T	ENST00000380615.3	-	5	744	c.577G>A	c.(577-579)Gcc>Acc	p.A193T	KATNAL1_ENST00000380617.3_Missense_Mutation_p.A193T	NM_032116.4	NP_115492.1	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	193						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		CTTTCAAGGGCTTCCACCAGA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													182	162	169			NA	NA	13		NA											NA				30815139		2203	4300	6503	SO:0001583	missense			AK097423	CCDS31956.1	13q12.3	2010-04-21			ENSG00000102781	ENSG00000102781	84056	84056		ATPases / AAA-type	28361	protein-coding gene	gene with protein product		614764			NA	12477932	Standard	NM_032116	NM_001014380	NA	Approved	MGC2599	uc001uss.4	Q9BW62	OTTHUMG00000016665	ENST00000380615.3:c.577G>A	13.37:g.30815139C>T	ENSP00000369989:p.Ala193Thr	NA	A8K5X4	37	CCDS31956.1	.	.	.	.	.	.	.	.	.	.	C	6.190	0.403286	0.11754	.	.	ENSG00000102781	ENST00000380615;ENST00000380617	D;D	0.94280	-3.39;-3.39	5.56	4.71	0.59529	.	0.244503	0.40385	N	0.001120	D	0.88171	0.6365	L	0.28740	0.885	0.50171	D	0.999854	B	0.16396	0.017	B	0.15484	0.013	T	0.83204	-0.0077	10	0.19590	T	0.45	-18.8873	14.5621	0.68148	0.0:0.9297:0.0:0.0703	.	193	Q9BW62	KATL1_HUMAN	T	193	ENSP00000369989:A193T;ENSP00000369991:A193T	ENSP00000369989:A193T	A	-	1	0	KATNAL1	29713139	0.851000	0.29673	0.665000	0.29768	0.996000	0.88848	1.757000	0.38400	1.356000	0.45884	0.650000	0.86243	GCC	KATNAL1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044346.2		-	ENST00000380615.3	Missense_Mutation	SNP	13 : 30815139 - 30815139 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	497	66
PMPCA	23203	broad.mit.edu	37	9	139313360	139313360	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139313360A>G	ENST00000371717.3	+	10	1199	c.1190A>G	c.(1189-1191)gAc>gGc	p.D397G	PMPCA_ENST00000399219.3_Missense_Mutation_p.D266G|PMPCA_ENST00000462616.1_3'UTR	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	397					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GCCAGCGCCGACCCAAGACAG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	50	54			NA	NA	9		NA											NA				139313360		2203	4300	6503	SO:0001583	missense			D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688	23203	23203			18667	protein-coding gene	gene with protein product		613036	inositol polyphosphate-5-phosphatase, 72 kD	INPP5E	NA	8590280, 7788527	Standard	NM_015160	NM_015160	NA	Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.1190A>G	9.37:g.139313360A>G	ENSP00000360782:p.Asp397Gly	NA	Q16639|Q8N513	37	CCDS35180.1	.	.	.	.	.	.	.	.	.	.	a	12.48	1.949759	0.34377	.	.	ENSG00000165688	ENST00000371717;ENST00000399219;ENST00000444897	T;T;T	0.09445	2.98;2.98;2.98	5.2	5.2	0.72013	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.042704	0.85682	D	0.000000	T	0.10035	0.0246	L	0.35487	1.065	0.80722	D	1	B;B;B;B	0.32968	0.12;0.025;0.392;0.025	B;B;B;B	0.33960	0.126;0.056;0.173;0.056	T	0.26360	-1.0105	10	0.24483	T	0.36	.	14.2719	0.66157	1.0:0.0:0.0:0.0	.	266;397;105;397	B4DKL3;Q5SXM9;Q5SXN9;Q10713	.;.;.;MPPA_HUMAN	G	397;266;105	ENSP00000360782:D397G;ENSP00000416702:D266G;ENSP00000408393:D105G	ENSP00000360782:D397G	D	+	2	0	PMPCA	138433181	1.000000	0.71417	0.992000	0.48379	0.277000	0.26821	7.014000	0.76380	1.964000	0.57103	0.529000	0.55759	GAC	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055054.1		+	ENST00000371717.3	Missense_Mutation	SNP	9 : 139313360 - 139313360 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	224	9
IFNAR2	3455	broad.mit.edu	37	21	34619141	34619141	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34619141A>C	ENST00000404220.3	+	5	669	c.340A>C	c.(340-342)Agc>Cgc	p.S114R	IFNAR2_ENST00000413881.1_Missense_Mutation_p.S42R|IFNAR2_ENST00000342101.3_Missense_Mutation_p.S114R|IFNAR2_ENST00000342136.4_Missense_Mutation_p.S114R|AP000295.9_ENST00000433395.2_Silent_p.S21S|IFNAR2_ENST00000382264.3_Missense_Mutation_p.S114R|IFNAR2_ENST00000382241.3_Missense_Mutation_p.S114R|IFNAR2_ENST00000420068.1_3'UTR			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	114					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	AGAAGGATTCAGCGGGAACAC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	135	149			NA	NA	21		NA											NA				34619141		2203	4300	6503	SO:0001583	missense				CCDS13621.1, CCDS13622.1, CCDS74782.1	21q22.1	2010-08-17			ENSG00000159110	ENSG00000159110	3455	3455		Interferons	5433	protein-coding gene	gene with protein product		602376		IFNABR	NA	8181059	Standard		NM_207585	NA	Approved		uc002yrd.3	P48551	OTTHUMG00000065127	ENST00000404220.3:c.340A>C	21.37:g.34619141A>C	ENSP00000384309:p.Ser114Arg	NA	A8KAJ4|D3DSE8|D3DSE9|Q15467|Q6FHD7	37	CCDS13622.1	.	.	.	.	.	.	.	.	.	.	A	11.84	1.759776	0.31137	.	.	ENSG00000159110	ENST00000382264;ENST00000404220;ENST00000382241;ENST00000342136;ENST00000342101;ENST00000413881;ENST00000443073;ENST00000447980	T;T;T;T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82	4.02	-6.61	0.01818	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.463445	0.19627	U	0.109766	T	0.44307	0.1287	N	0.04959	-0.14	0.09310	N	1	B;B;B	0.13145	0.002;0.007;0.003	B;B;B	0.09377	0.002;0.004;0.004	T	0.43327	-0.9398	10	0.02654	T	1	.	17.0179	0.86424	0.1906:0.8094:0.0:0.0	.	114;114;114	P48551-3;P48551;P48551-2	.;INAR2_HUMAN;.	R	114;114;114;114;114;42;42;138	ENSP00000371699:S114R;ENSP00000384309:S114R;ENSP00000371676:S114R;ENSP00000343957:S114R;ENSP00000343289:S114R;ENSP00000413160:S42R;ENSP00000403569:S42R;ENSP00000402311:S138R	ENSP00000343289:S114R	S	+	1	0	IFNAR2	33541011	0.001000	0.12720	0.000000	0.03702	0.459000	0.32528	-0.095000	0.11077	-1.170000	0.02769	0.533000	0.62120	AGC	IFNAR2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000139824.4		+	ENST00000404220.3	Missense_Mutation	SNP	21 : 34619141 - 34619141 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	202	37
C16orf87	388272	broad.mit.edu	37	16	46843515	46843515	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:46843515C>T	ENST00000285697.4	-	3	607	c.346G>A	c.(346-348)Gag>Aag	p.E116K	C16orf87_ENST00000394806.2_Intron|C16orf87_ENST00000564250.1_5'UTR	NM_001001436.2	NP_001001436.1	Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	116										large_intestine(4)|urinary_tract(1)	5						TTGTTCATACCTCTTTCTTCC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													215	197	203			NA	NA	16		NA											NA				46843515		2203	4300	6503	SO:0001630	splice_region_variant				CCDS10724.1	16q11.2	2008-08-08			ENSG00000155330	ENSG00000155330	388272	388272			33754	protein-coding gene	gene with protein product					NA		Standard	NM_001001436	NM_001001436	NA	Approved		uc002eek.1	Q6PH81	OTTHUMG00000132538	ENST00000285697.4:c.346+1G>A	16.37:g.46843515C>T		NA	Q63HN9	37	CCDS10724.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177511	0.57692	.	.	ENSG00000155330	ENST00000285697	.	.	.	5.68	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.43055	0.1230	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.25222	-1.0138	8	.	.	.	-6.9821	15.1206	0.72441	0.0:0.9316:0.0:0.0684	.	116	Q6PH81	CP087_HUMAN	K	116	.	.	E	-	1	0	C16orf87	45401016	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.943000	0.75934	1.541000	0.49316	0.585000	0.79938	GAG	C16orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255738.2	Missense_Mutation	-	ENST00000285697.4	Splice_Site	SNP	16 : 46843515 - 46843515 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	847	86
SLC29A4	222962	broad.mit.edu	37	7	5340232	5340232	+	Silent	SNP	C	C	T	rs143356600	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5340232C>T	ENST00000396872.3	+	10	1550	c.1389C>T	c.(1387-1389)ttC>ttT	p.F463F	SLC29A4_ENST00000297195.4_Silent_p.F463F|SLC29A4_ENST00000439491.2_3'UTR|SLC29A4_ENST00000406453.3_Silent_p.F449F			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	NA					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		ACGGCTACTTCGGCAGCGTGC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	6,4400		0,6,2197	80	75	77		1389,1389	-3.6	1	7	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SLC29A4	NM_001040661.1,NM_153247.2	,	0,6,6497	TT,TC,CC	NA	0.0,0.1362,0.0461	,	463/531,463/531	5340232	6,13000	2203	4300	6503	SO:0001819	synonymous_variant			AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638	222962	222962		Solute carriers	23097	protein-coding gene	gene with protein product		609149	solute carrier family 29 (nucleoside transporters), member 4		NA	12838422	Standard	NM_153247	NM_153247	NA	Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.1389C>T	7.37:g.5340232C>T		NA	Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	37	CCDS5340.1																																																																																			SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060118.6		+	ENST00000396872.3	Silent	SNP	7 : 5340232 - 5340232 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	789	157
ADHFE1	137872	broad.mit.edu	37	8	67356848	67356848	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67356848C>T	ENST00000396623.3	+	5	249	c.218C>T	c.(217-219)gCt>gTt	p.A73V	ADHFE1_ENST00000415254.1_Missense_Mutation_p.A25V|ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000379385.4_Missense_Mutation_p.A73V	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	73					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			AACATGGGTGCTAAAAATGTG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	174	176			NA	NA	8		NA											NA				67356848		2203	4300	6503	SO:0001583	missense			AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	137872	137872	1.1.99.24	Alcohol dehydrogenases	16354	protein-coding gene	gene with protein product	hydroxyacid-oxoacid transhydrogenase	611083			NA	12592711	Standard	NM_144650	NM_144650	NA	Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.218C>T	8.37:g.67356848C>T	ENSP00000379865:p.Ala73Val	NA	B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	37	CCDS6190.2	.	.	.	.	.	.	.	.	.	.	C	34	5.291775	0.95546	.	.	ENSG00000147576	ENST00000523113;ENST00000379385;ENST00000396623;ENST00000415254	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.78	5.78	0.91487	Alcohol dehydrogenase, iron-type (1);	0.000000	0.85682	D	0.000000	T	0.44435	0.1293	L	0.48935	1.535	0.80722	D	1	B	0.27700	0.186	B	0.33121	0.158	T	0.22730	-1.0208	10	0.38643	T	0.18	-0.8193	20.0215	0.97504	0.0:1.0:0.0:0.0	.	73	Q8IWW8	HOT_HUMAN	V	8;73;73;25	ENSP00000428055:A8V;ENSP00000368695:A73V;ENSP00000379865:A73V;ENSP00000407115:A25V	ENSP00000368695:A73V	A	+	2	0	ADHFE1	67519402	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.986000	0.70563	2.743000	0.94032	0.655000	0.94253	GCT	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316867.3		+	ENST00000396623.3	Missense_Mutation	SNP	8 : 67356848 - 67356848 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	669	134
RPL3L	6123	broad.mit.edu	37	16	1995840	1995840	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1995840C>A	ENST00000268661.7	-	8	1137	c.1043G>T	c.(1042-1044)aGa>aTa	p.R348I		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	348					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						GCCAACCTTTCTCAGCGTAAT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	119	126			NA	NA	16		NA											NA				1995840		2199	4300	6499	SO:0001583	missense			U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986	6123	6123		L ribosomal proteins	10351	protein-coding gene	gene with protein product					NA	8921388	Standard	NM_005061	NM_005061	NA	Approved		uc002cnh.3	Q92901	OTTHUMG00000128685	ENST00000268661.7:c.1043G>T	16.37:g.1995840C>A	ENSP00000268661:p.Arg348Ile	NA		37	CCDS10450.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751754	0.49362	.	.	ENSG00000140986	ENST00000268661	T	0.29917	1.55	4.25	3.3	0.37823	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.69269	0.3092	H	0.98786	4.33	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.79453	-0.1797	10	0.87932	D	0	-35.042	11.1468	0.48434	0.0:0.9078:0.0:0.0922	.	348	Q92901	RL3L_HUMAN	I	348	ENSP00000268661:R348I	ENSP00000268661:R348I	R	-	2	0	RPL3L	1935841	0.977000	0.34250	0.996000	0.52242	0.003000	0.03518	7.383000	0.79741	1.125000	0.41998	-0.251000	0.11542	AGA	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250582.2		-	ENST00000268661.7	Missense_Mutation	SNP	16 : 1995840 - 1995840 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	571	116
IFI16	3428	broad.mit.edu	37	1	158984471	158984471	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158984471A>G	ENST00000295809.7	+	2	256	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	IFI16_ENST00000430894.2_Missense_Mutation_p.M5V|IFI16_ENST00000359709.3_Start_Codon_SNP_p.M1V|IFI16_ENST00000368132.3_Start_Codon_SNP_p.M1V|IFI16_ENST00000448393.2_Start_Codon_SNP_p.M1V|IFI16_ENST00000340979.6_Start_Codon_SNP_p.M1V|IFI16_ENST00000368131.4_Start_Codon_SNP_p.M1V			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	1	DAPIN.|Lys-rich.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					GTCTGTAAAGATGGGAAAAAA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	54	54			NA	NA	1		NA											NA				158984471		2203	4298	6501	SO:0001582	initiator_codon_variant			M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565	3428	3428			5395	protein-coding gene	gene with protein product		147586			NA	1526658, 7959953	Standard	NM_005531	NM_005531	NA	Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1A>G	1.37:g.158984471A>G	ENSP00000295809:p.Met1Val	NA	Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	37		.	.	.	.	.	.	.	.	.	.	.	9.694	1.152654	0.21371	.	.	ENSG00000163565	ENST00000359709;ENST00000426592;ENST00000447473;ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	T;T;T;T;T;T;T;T	0.28454	3.38;1.61;1.93;3.21;3.21;3.23;3.23;3.33	3.14	3.14	0.36123	Pyrin (1);	.	.	.	.	T	0.40067	0.1102	.	.	.	0.80722	D	1	D;P;D	0.63880	0.993;0.954;0.993	D;D;D	0.68192	0.956;0.916;0.956	T	0.38520	-0.9657	8	0.87932	D	0	.	8.0366	0.30496	1.0:0.0:0.0:0.0	.	5;1;1	E7EPR3;Q16666-2;Q16666	.;.;IF16_HUMAN	V	1;1;1;1;1;1;1;5	ENSP00000352740:M1V;ENSP00000406406:M1V;ENSP00000407052:M1V;ENSP00000295809:M1V;ENSP00000342741:M1V;ENSP00000357113:M1V;ENSP00000357114:M1V;ENSP00000394935:M5V	ENSP00000295809:M1V	M	+	1	0	IFI16	157251095	0.991000	0.36638	0.313000	0.25210	0.017000	0.09413	3.185000	0.50934	1.657000	0.50732	0.374000	0.22700	ATG	IFI16-013	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000421720.1	Missense_Mutation	+	ENST00000295809.7	Start_Codon_SNP	SNP	1 : 158984471 - 158984471 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	369	94
HTR7	3363	broad.mit.edu	37	10	92509222	92509222	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:92509222C>A	ENST00000336152.3	-	2	695	c.669G>T	c.(667-669)caG>caT	p.Q223H	HTR7_ENST00000371721.3_Missense_Mutation_p.Q223H|HTR7_ENST00000371719.2_Missense_Mutation_p.Q223H|HTR7_ENST00000277874.6_Missense_Mutation_p.Q223H	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	223					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	CATTTACATTCTGAGCCCATC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	104	102			NA	NA	10		NA											NA				92509222		2203	4300	6503	SO:0001583	missense			BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680	3363	3363		5-HT (serotonin) receptors, GPCR / Class A : 5-HT (serotonin) receptors, GPCR only	5302	protein-coding gene	gene with protein product		182137	5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)		NA	8226867	Standard	NM_000872	NM_000872	NA	Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.669G>T	10.37:g.92509222C>A	ENSP00000337949:p.Gln223His	NA	B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02	37	CCDS7408.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.928757	0.34002	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.056782	0.64402	D	0.000001	T	0.25158	0.0611	L	0.27053	0.805	0.52099	D	0.999947	B;B	0.31209	0.313;0.044	B;B	0.26614	0.071;0.064	T	0.04650	-1.0936	10	0.45353	T	0.12	.	12.026	0.53371	0.0:0.878:0.0:0.122	.	223;223	P34969;P34969-2	5HT7R_HUMAN;.	H	223	ENSP00000337949:Q223H;ENSP00000277874:Q223H;ENSP00000360784:Q223H;ENSP00000360786:Q223H	ENSP00000277874:Q223H	Q	-	3	2	HTR7	92499202	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	4.716000	0.61916	2.756000	0.94617	0.650000	0.86243	CAG	HTR7-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049343.1		-	ENST00000336152.3	Missense_Mutation	SNP	10 : 92509222 - 92509222 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	492	107
MBD2	8932	broad.mit.edu	37	18	51750412	51750412	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51750412C>T	ENST00000398398.2	-	1	605	c.518G>A	c.(517-519)gGc>gAc	p.G173D	MBD2_ENST00000583046.1_Missense_Mutation_p.G173D|MBD2_ENST00000256429.3_Missense_Mutation_p.G173D			Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	173	MBD.				transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	ATCGCTCTTGCCAGCACTTAG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	31	31			NA	NA	18		NA											NA				51750412		2203	4300	6503	SO:0001583	missense			AF072242	CCDS11953.1, CCDS45871.1	18q21	2008-08-01			ENSG00000134046	ENSG00000134046	8932	8932			6917	protein-coding gene	gene with protein product		603547			NA	9774669, 10441743	Standard	NM_003927	NM_003927	NA	Approved		uc002lfg.2	Q9UBB5	OTTHUMG00000132705	ENST00000398398.2:c.518G>A	18.37:g.51750412C>T	ENSP00000381435:p.Gly173Asp	NA	O95242|Q9UIS8	37		.	.	.	.	.	.	.	.	.	.	C	13.81	2.349590	0.41599	.	.	ENSG00000134046	ENST00000256429;ENST00000398398	D;D	0.99470	-5.96;-5.96	4.57	3.68	0.42216	Methyl-CpG DNA binding (4);DNA-binding, integrase-type (1);	0.074158	0.52532	N	0.000065	D	0.99444	0.9803	M	0.85041	2.73	0.52099	D	0.999944	D;D	0.89917	0.988;1.0	P;D	0.97110	0.85;1.0	D	0.98264	1.0500	10	0.87932	D	0	-12.6095	11.9532	0.52966	0.0:0.9096:0.0:0.0904	.	173;173	Q9UBB5-3;Q9UBB5	.;MBD2_HUMAN	D	173	ENSP00000256429:G173D;ENSP00000381435:G173D	ENSP00000256429:G173D	G	-	2	0	MBD2	50004410	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.193000	0.77780	2.074000	0.62210	0.491000	0.48974	GGC	MBD2-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000448259.1		-	ENST00000398398.2	Missense_Mutation	SNP	18 : 51750412 - 51750412 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	185	18
ZNF628	89887	broad.mit.edu	37	19	55995070	55995070	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55995070C>T	ENST00000598519.1	+	3	3063	c.2510C>T	c.(2509-2511)gCg>gTg	p.A837V	ZNF628_ENST00000391718.2_Missense_Mutation_p.A833V			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	833	4 X approximate tandem repeats.					nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CTCCAGCCAGCGCAGGAGGTG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0									VAL/ALA	0,4406		0,0,2203	52	61	58		2498	2.9	0.8	19		58	1,8599		0,1,4299	no	missense	ZNF628	NM_033113.2	64	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign	833/1056	55995070	1,13005	2203	4300	6503	SO:0001583	missense			AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483	89887	89887		Zinc fingers, C2H2-type	28054	protein-coding gene	gene with protein product	Zinc finger expressed in Embryonal cells and Certain adult organs	610671			NA		Standard	XM_058964	NM_033113	NA	Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.2510C>T	19.37:g.55995070C>T	ENSP00000469591:p.Ala837Val	NA	Q86X34	37	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	12.80	2.046309	0.36085	0.0	1.16E-4	ENSG00000197483	ENST00000391718	T	0.09445	2.98	2.92	2.92	0.33932	.	.	.	.	.	T	0.07143	0.0181	N	0.19112	0.55	0.09310	N	1	B	0.31125	0.309	B	0.23852	0.049	T	0.25950	-1.0117	9	0.87932	D	0	.	9.4682	0.38826	0.0:1.0:0.0:0.0	.	833	Q5EBL2	ZN628_HUMAN	V	833	ENSP00000375598:A833V	ENSP00000375598:A833V	A	+	2	0	ZNF628	60686882	0.359000	0.24955	0.776000	0.31678	0.778000	0.44026	1.175000	0.31944	1.638000	0.50547	0.450000	0.29827	GCG	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317934.2		+	ENST00000598519.1	Missense_Mutation	SNP	19 : 55995070 - 55995070 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	554	121
PSMB5	5693	broad.mit.edu	37	14	23502760	23502760	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23502760C>T	ENST00000460922.2	-	1	211				PSMB5_ENST00000425762.2_Missense_Mutation_p.A5T|PSMB5_ENST00000493471.2_Missense_Mutation_p.A108T|PSMB5_ENST00000361611.6_Missense_Mutation_p.A108T|AL132780.1_ENST00000385031.1_RNA			P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5	NA					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus	protein binding|threonine-type endopeptidase activity	p.A108T(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)	CAATCCGCTGCGCCCCCAGCC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											67	63	65			NA	NA	14		NA											NA				23502760		2203	4300	6503	SO:0001627	intron_variant			D29011	CCDS9584.1, CCDS45083.1, CCDS45084.1	14q11.2	2008-08-29			ENSG00000100804	ENSG00000100804	5693	5693		Proteasome (prosome, macropain) subunits	9542	protein-coding gene	gene with protein product		600306			NA	8066462, 8811196	Standard	NM_002797	NM_001130725	NA	Approved	X, MB1	uc001wii.3	P28074	OTTHUMG00000028713	ENST00000460922.2:c.198+1132G>A	14.37:g.23502760C>T		NA	B2R4N9|B4DUM9|D3DS43|Q16242|Q6PEW2|Q7Z3B5|Q86T01|Q9TNN9	37		.	.	.	.	.	.	.	.	.	.	C	26.6	4.749066	0.89753	.	.	ENSG00000100804	ENST00000361611;ENST00000493471;ENST00000425762	T;T;T	0.36699	1.24;1.24;1.24	4.88	4.88	0.63580	Proteasome, beta-type subunit, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.75517	0.3860	H	0.99590	4.645	0.80722	D	1	P;D	0.76494	0.92;0.999	B;P	0.62014	0.109;0.897	D	0.87643	0.2523	10	0.87932	D	0	-1.9348	16.8115	0.85722	0.0:1.0:0.0:0.0	.	108;108	P28074-2;P28074	.;PSB5_HUMAN	T	108;108;5	ENSP00000355325:A108T;ENSP00000452424:A108T;ENSP00000395206:A5T	ENSP00000334973:A108T	A	-	1	0	PSMB5	22572600	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.476000	0.60216	2.237000	0.73441	0.561000	0.74099	GCA	PSMB5-001	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000071698.2		-	ENST00000460922.2	Intron	SNP	14 : 23502760 - 23502760 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	302	39
TNFRSF11A	8792	broad.mit.edu	37	18	60029018	60029018	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:60029018C>T	ENST00000586569.1	+	7	760	c.722C>T	c.(721-723)gCa>gTa	p.A241V	TNFRSF11A_ENST00000269485.7_Intron	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	241					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				AAAGGGAAAGCACTCACAGGT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	144	148			NA	NA	18		NA											NA				60029018		2203	4300	6503	SO:0001583	missense			AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655	8792	8792		Tumor necrosis factor receptor superfamily, CD molecules	11908	protein-coding gene	gene with protein product		603499	tumor necrosis factor receptor superfamily, member 11a, activator of NFKB, Paget disease of bone 2, loss of heterozygosity, 18, chromosomal region 1	PDB2, LOH18CR1	NA	9367155, 10615125	Standard		NM_001270951	NA	Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.722C>T	18.37:g.60029018C>T	ENSP00000465500:p.Ala241Val	NA		37	CCDS11980.1	.	.	.	.	.	.	.	.	.	.	C	9.525	1.109338	0.20714	.	.	ENSG00000141655	ENST00000269485	.	.	.	5.66	2.56	0.30785	.	0.809251	0.11152	N	0.594005	T	0.33614	0.0869	L	0.53249	1.67	0.09310	N	1	B	0.22346	0.068	B	0.18561	0.022	T	0.25537	-1.0129	8	.	.	.	-0.9648	4.5426	0.12066	0.1507:0.566:0.0:0.2833	.	241	Q9Y6Q6	TNR11_HUMAN	V	241	.	.	A	+	2	0	TNFRSF11A	58179998	0.004000	0.15560	0.223000	0.23860	0.756000	0.42949	0.345000	0.19979	0.677000	0.31305	-0.136000	0.14681	GCA	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256186.2		+	ENST00000586569.1	Missense_Mutation	SNP	18 : 60029018 - 60029018 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	929	165
DSP	1832	broad.mit.edu	37	6	7565651	7565651	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7565651G>A	ENST00000379802.3	+	7	1178	c.837G>A	c.(835-837)acG>acA	p.T279T	DSP_ENST00000418664.2_Silent_p.T279T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	279	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTCAGGCCACGTCCAGGGAGA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	115	126			NA	NA	6		NA											NA				7565651		2203	4300	6503	SO:0001819	synonymous_variant			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696	1832	1832			3052	protein-coding gene	gene with protein product		125647	desmoplakin (DPI, DPII)		NA	1889810	Standard	NM_004415	NM_004415	NA	Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.837G>A	6.37:g.7565651G>A		NA	B2RTT2|O75993|Q14189|Q9UHN4	37	CCDS4501.1																																																																																			DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039786.2		+	ENST00000379802.3	Silent	SNP	6 : 7565651 - 7565651 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	421	36
GDF9	2661	broad.mit.edu	37	5	132197621	132197621	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:132197621T>C	ENST00000378673.2	-	3	1891	c.1025A>G	c.(1024-1026)tAc>tGc	p.Y342C	GDF9_ENST00000296875.2_Missense_Mutation_p.Y342C			O60383	GDF9_HUMAN	growth differentiation factor 9	342					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGTCTGAAGTATTCACTCAG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	70	69			NA	NA	5		NA											NA				132197621		2203	4300	6503	SO:0001583	missense				CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404	2661	2661		Endogenous ligands	4224	protein-coding gene	gene with protein product		601918			NA	7760846	Standard	NM_005260	NM_005260	NA	Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.1025A>G	5.37:g.132197621T>C	ENSP00000367942:p.Tyr342Cys	NA	Q4VAW5	37	CCDS4162.1	.	.	.	.	.	.	.	.	.	.	T	17.16	3.319266	0.60524	.	.	ENSG00000164404	ENST00000378673;ENST00000296875	T;T	0.81163	-1.46;-1.46	6.13	6.13	0.99165	Transforming growth factor-beta, C-terminal (1);	0.122391	0.56097	D	0.000021	D	0.90672	0.7074	M	0.86178	2.8	0.51012	D	0.999901	D	0.89917	1.0	D	0.77557	0.99	D	0.91699	0.5372	10	0.66056	D	0.02	.	16.4513	0.83991	0.0:0.0:0.0:1.0	.	342	O60383	GDF9_HUMAN	C	342	ENSP00000367942:Y342C;ENSP00000296875:Y342C	ENSP00000296875:Y342C	Y	-	2	0	GDF9	132225520	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	5.434000	0.66526	2.364000	0.80123	0.524000	0.50904	TAC	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000133060.2		-	ENST00000378673.2	Missense_Mutation	SNP	5 : 132197621 - 132197621 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	433	76
GAST	2520	broad.mit.edu	37	17	39872089	39872089	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39872089G>T	ENST00000329402.3	+	3	338	c.271G>T	c.(271-273)Gac>Tac	p.D91Y	JUP_ENST00000540235.1_Intron	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	gastrin	91						extracellular region	hormone activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TGGATGGATGGACTTCGGCCG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	73	73			NA	NA	17		NA											NA				39872089		2203	4300	6503	SO:0001583	missense				CCDS11404.1	17q21.2	2013-02-26	2005-06-14	2005-06-14	ENSG00000184502	ENSG00000184502	2520	2520		Endogenous ligands	4164	protein-coding gene	gene with protein product	preprogastrin	137250		GAS	NA		Standard		NM_000805	NA	Approved		uc002hxl.3	P01350	OTTHUMG00000133496	ENST00000329402.3:c.271G>T	17.37:g.39872089G>T	ENSP00000331358:p.Asp91Tyr	NA	P78463|P78464	37	CCDS11404.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580594	0.46006	.	.	ENSG00000184502	ENST00000329402	T	0.69040	-0.37	4.74	4.74	0.60224	Gastrin/cholecystokinin peptide hormone (2);Gastrin/cholecystokinin, conserved site (1);	0.000000	0.53938	D	0.000056	T	0.80924	0.4717	M	0.79475	2.455	0.40748	D	0.982895	D	0.89917	1.0	D	0.97110	1.0	D	0.83801	0.0236	10	0.87932	D	0	-27.5677	13.1178	0.59309	0.0:0.0:1.0:0.0	.	91	P01350	GAST_HUMAN	Y	91	ENSP00000331358:D91Y	ENSP00000331358:D91Y	D	+	1	0	GAST	37125615	1.000000	0.71417	1.000000	0.80357	0.243000	0.25628	4.178000	0.58284	2.455000	0.83008	0.655000	0.94253	GAC	GAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257409.1		+	ENST00000329402.3	Missense_Mutation	SNP	17 : 39872089 - 39872089 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	576	112
MCM5	4174	broad.mit.edu	37	22	35808506	35808506	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:35808506G>A	ENST00000216122.4	+	8	1077	c.923G>A	c.(922-924)cGc>cAc	p.R308H	MCM5_ENST00000465557.1_3'UTR|MCM5_ENST00000382011.5_Missense_Mutation_p.R265H	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	308					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|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						TACCAAGGCCGCAGCTTTGCT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	70	69			NA	NA	22		NA											NA				35808506		2203	4300	6503	SO:0001583	missense				CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297	4174	4174			6948	protein-coding gene	gene with protein product		602696	minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46), MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)	CDC46	NA	8751386, 10591208	Standard		NM_006739	NA	Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.923G>A	22.37:g.35808506G>A	ENSP00000216122:p.Arg308His	NA	O60785|Q14578|Q9BTJ4|Q9BWL8	37	CCDS13915.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.555671	0.45487	.	.	ENSG00000100297	ENST00000216122;ENST00000382011;ENST00000444582	T;T	0.03801	4.13;3.8	5.62	4.6	0.57074	.	0.097141	0.64402	D	0.000001	T	0.10423	0.0255	M	0.86028	2.79	0.58432	D	0.999992	B;B;B;B	0.13594	0.008;0.008;0.008;0.008	B;B;B;B	0.12837	0.008;0.008;0.008;0.008	T	0.01545	-1.1328	10	0.56958	D	0.05	-25.5116	11.3088	0.49351	0.1579:0.0:0.8421:0.0	.	308;308;265;308	B1AHB0;Q53FG5;B1AHB1;P33992	.;.;.;MCM5_HUMAN	H	308;265;217	ENSP00000216122:R308H;ENSP00000371441:R265H	ENSP00000216122:R308H	R	+	2	0	MCM5	34138506	1.000000	0.71417	1.000000	0.80357	0.504000	0.33889	5.437000	0.66544	1.383000	0.46405	-0.258000	0.10820	CGC	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320661.3		+	ENST00000216122.4	Missense_Mutation	SNP	22 : 35808506 - 35808506 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	756	152
BRIP1	83990	broad.mit.edu	37	17	59760907	59760907	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:59760907G>A	ENST00000259008.2	-	20	3767	c.3500C>T	c.(3499-3501)gCt>gTt	p.A1167V		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1167					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						AAGGTCTTTAGCTAAAATGCA	0.338		NA	F, N, Mis			AML, leukemia, breast		Involved in tolerance or repair of DNA crosslinks						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Fanconi anaemia J, breast cancer susceptiblity	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		L, E	0													73	72	73			NA	NA	17		NA											NA				59760907		2203	4298	6501	SO:0001583	missense			AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492	83990	83990		Fanconi anemia, complementation groups	20473	protein-coding gene	gene with protein product	BRCA1/BRCA2-associated helicase 1	605882			NA	11595410, 11301010	Standard	NM_032043	NM_032043	NA	Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.3500C>T	17.37:g.59760907G>A	ENSP00000259008:p.Ala1167Val	NA	Q3MJE2|Q8NCI5	37	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	G	9.160	1.018504	0.19355	.	.	ENSG00000136492	ENST00000259008	T	0.78481	-1.18	5.69	4.72	0.59763	.	0.908560	0.09403	N	0.806853	T	0.64438	0.2598	N	0.17082	0.46	0.80722	D	1	B	0.18610	0.029	B	0.17722	0.019	T	0.50233	-0.8852	9	.	.	.	-2.3141	11.8611	0.52467	0.0815:0.0:0.9185:0.0	.	1167	Q9BX63	FANCJ_HUMAN	V	1167	ENSP00000259008:A1167V	.	A	-	2	0	BRIP1	57115689	0.051000	0.20477	0.861000	0.33841	0.098000	0.18820	0.409000	0.21082	1.400000	0.46741	0.563000	0.77884	GCT	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445362.1		-	ENST00000259008.2	Missense_Mutation	SNP	17 : 59760907 - 59760907 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	251	47
WDR6	11180	broad.mit.edu	37	3	49049361	49049361	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49049361G>T	ENST00000415265.2	+	2	136				WDR6_ENST00000489684.1_Intron|WDR6_ENST00000448293.1_Missense_Mutation_p.A81S|WDR6_ENST00000395474.3_Missense_Mutation_p.A162S|WDR6_ENST00000608424.1_Missense_Mutation_p.A132S			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	NA					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TATAGCCTTGGCCCTGGGCCA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	68	69			NA	NA	3		NA											NA				49049361		2203	4300	6503	SO:0001627	intron_variant			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252	11180	11180		WD repeat domain containing	12758	protein-coding gene	gene with protein product		606031			NA		Standard		NM_018031	NA	Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000415265.2:c.101-1363G>T	3.37:g.49049361G>T		NA	B4DHK2|Q3MIT1|Q9UF63	37		.	.	.	.	.	.	.	.	.	.	G	14.72	2.621042	0.46736	.	.	ENSG00000178252	ENST00000395474;ENST00000438660;ENST00000354294;ENST00000448293	T;T;T	0.77098	-0.06;-0.06;-1.07	5.43	5.43	0.79202	WD40 repeat-like-containing domain (1);	0.055894	0.64402	D	0.000001	T	0.74543	0.3730	L	0.28115	0.83	0.37951	D	0.932645	D;P	0.53312	0.959;0.826	P;B	0.50109	0.631;0.341	T	0.75007	-0.3469	10	0.28530	T	0.3	-21.9638	18.0143	0.89233	0.0:0.0:1.0:0.0	.	132;81	Q9NNW5;E9PDU5	WDR6_HUMAN;.	S	162;164;132;81	ENSP00000378857:A162S;ENSP00000387692:A164S;ENSP00000413432:A81S	ENSP00000346247:A132S	A	+	1	0	WDR6	49024365	1.000000	0.71417	1.000000	0.80357	0.355000	0.29361	6.145000	0.71769	2.548000	0.85928	0.561000	0.74099	GCC	WDR6-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000342278.1		+	ENST00000415265.2	Intron	SNP	3 : 49049361 - 49049361 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	291	62
TOMM70A	9868	broad.mit.edu	37	3	100092477	100092477	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100092477G>T	ENST00000284320.5	-	8	1688	c.1240C>A	c.(1240-1242)Ctt>Att	p.L414I		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	414					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						ACTTGATCAAGGAGTATTTTC	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	105	106			NA	NA	3		NA											NA				100092477		2203	4300	6503	SO:0001583	missense			AB018262	CCDS33807.1	3q12.2	2013-01-10	2006-04-04		ENSG00000154174	ENSG00000154174	9868	9868		Tetratricopeptide (TTC) repeat domain containing	11985	protein-coding gene	gene with protein product		606081	translocase of outer mitochondrial membrane 70 (yeast) homolog A, translocase of outer mitochondrial membrane 70 homolog A (yeast)		NA	10582581	Standard		NM_014820	NA	Approved	KIAA0719	uc003dtw.3	O94826	OTTHUMG00000159065	ENST00000284320.5:c.1240C>A	3.37:g.100092477G>T	ENSP00000284320:p.Leu414Ile	NA	D3DN48	37	CCDS33807.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.085829	0.76642	.	.	ENSG00000154174	ENST00000284320;ENST00000544924	T	0.64991	-0.13	5.89	5.89	0.94794	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.71082	0.3298	M	0.76938	2.355	0.80722	D	1	P	0.51791	0.948	P	0.50570	0.644	T	0.74182	-0.3748	10	0.56958	D	0.05	-8.5736	13.4529	0.61182	0.0712:0.0:0.9288:0.0	.	414	O94826	TOM70_HUMAN	I	414;307	ENSP00000284320:L414I	ENSP00000284320:L414I	L	-	1	0	TOMM70A	101575167	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	5.954000	0.70298	2.783000	0.95769	0.655000	0.94253	CTT	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353141.2		-	ENST00000284320.5	Missense_Mutation	SNP	3 : 100092477 - 100092477 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	381	69
KCNH3	23416	broad.mit.edu	37	12	49942829	49942829	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49942829G>A	ENST00000257981.6	+	8	1601	c.1341G>A	c.(1339-1341)tcG>tcA	p.S447S		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	447					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GCGGCCCGTCGCTGCGCAGCG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	33	33			NA	NA	12		NA											NA				49942829		2203	4300	6503	SO:0001819	synonymous_variant			AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519	23416	23416		Potassium channels, Voltage-gated ion channels / Potassium channels	6252	protein-coding gene	gene with protein product		604527			NA	10455180, 16382104	Standard	NM_012284	NM_012284	NA	Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.1341G>A	12.37:g.49942829G>A		NA	Q9UQ06	37	CCDS8786.1																																																																																			KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404571.2		+	ENST00000257981.6	Silent	SNP	12 : 49942829 - 49942829 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	202	7
STH	246744	broad.mit.edu	37	17	44076881	44076881	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44076881G>A	ENST00000537309.1	+	1	266	c.236G>A	c.(235-237)aGc>aAc	p.S79N	MAPT_ENST00000446361.3_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000571987.1_Intron|MAPT_ENST00000415613.2_Intron|MAPT_ENST00000262410.5_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Intron	NM_001007532.2	NP_001007533.1	Q8IWL8	STH_HUMAN	saitohin	79						cytoplasm|nucleus				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						AGTTCTTACAGCTCTGAAGAG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	77	77			NA	NA	17		NA											NA				44076881		1926	4151	6077	SO:0001583	missense			AA325304	CCDS54136.1	17q21.1	2008-01-22				ENSG00000256762	246744	246744			18839	protein-coding gene	gene with protein product	microtubule-associated protein tau (MAPT) intronic transcript	607067			NA	12032355, 16186110	Standard		NM_001007532	NA	Approved	MAPTIT	uc002ijy.2	Q8IWL8		ENST00000537309.1:c.236G>A	17.37:g.44076881G>A	ENSP00000443168:p.Ser79Asn	NA	A1L3X7	37	CCDS54136.1	.	.	.	.	.	.	.	.	.	.	G	8.547	0.874519	0.17395	.	.	ENSG00000256762	ENST00000537309	T	0.54675	0.56	2.89	0.75	0.18387	.	.	.	.	.	T	0.29190	0.0726	N	0.08118	0	0.09310	N	1	P	0.40332	0.713	B	0.40410	0.328	T	0.16158	-1.0412	9	0.87932	D	0	.	2.9961	0.05998	0.158:0.0:0.5773:0.2646	.	79	Q8IWL8	STH_HUMAN	N	79	ENSP00000443168:S79N	ENSP00000443168:S79N	S	+	2	0	STH	41432718	0.007000	0.16637	0.001000	0.08648	0.029000	0.11900	0.605000	0.24179	0.240000	0.21263	0.561000	0.74099	AGC	STH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400444.1		+	ENST00000537309.1	Missense_Mutation	SNP	17 : 44076881 - 44076881 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	169	41
SUN2	25777	broad.mit.edu	37	22	39135889	39135889	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39135889G>A	ENST00000405510.1	-	14	1774	c.1416C>T	c.(1414-1416)cgC>cgT	p.R472R	SUN2_ENST00000406622.1_Silent_p.R472R|SUN2_ENST00000216064.4_Silent_p.R472R|SUN2_ENST00000411587.2_Silent_p.R461R|SUN2_ENST00000405018.1_Silent_p.R493R|RP3-508I15.14_ENST00000416406.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	472					centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						GGAGCCCCACGCGGCCCCCTC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	84	81			NA	NA	22		NA											NA				39135889		2203	4300	6503	SO:0001819	synonymous_variant			AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242	25777	25777			14210	protein-coding gene	gene with protein product		613569	unc-84 homolog B (C. elegans)	UNC84B	NA	10508607, 10375507	Standard	XM_039332	NM_015374	NA	Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.1416C>T	22.37:g.39135889G>A		NA	O75156|Q2NKN8|Q6B4H1|Q7Z3E3	37	CCDS13978.1																																																																																			SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321057.1		-	ENST00000405510.1	Silent	SNP	22 : 39135889 - 39135889 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1014	167
FH	2271	broad.mit.edu	37	1	241676958	241676958	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241676958T>C	ENST00000366560.3	-	3	361	c.323A>G	c.(322-324)cAg>cGg	p.Q108R		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	108					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		ACCATAATCCTGGTTTACTTC	0.373		NA	Mis, N, F			lieomyomatosis, renal			Hereditary Leiomyomatosis and Renal Cell Cancer					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(148;1573 2486 7381 46575)	yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	fumarate hydratase		E, M	0													146	144	145			NA	NA	1		NA											NA				241676958		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	2271	2271	4.2.1.2		3700	protein-coding gene	gene with protein product		136850			NA		Standard	NM_000143	NM_000143	NA	Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.323A>G	1.37:g.241676958T>C	ENSP00000355518:p.Gln108Arg	NA		37	CCDS1617.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.022955	0.54683	.	.	ENSG00000091483	ENST00000366560	D	0.99304	-5.72	5.85	5.85	0.93711	Lyase 1, N-terminal (1);L-Aspartase-like (1);L-Aspartase-like, N-terminal (1);	0.171783	0.52532	D	0.000071	D	0.95887	0.8661	N	0.05078	-0.115	0.51767	D	0.999934	B	0.02656	0.0	B	0.08055	0.003	D	0.94601	0.7796	10	0.16420	T	0.52	-25.9253	14.1942	0.65659	0.0:0.0:0.0:1.0	.	108	P07954	FUMH_HUMAN	R	108	ENSP00000355518:Q108R	ENSP00000355518:Q108R	Q	-	2	0	FH	239743581	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.749000	0.68704	2.234000	0.73211	0.533000	0.62120	CAG	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095490.1		-	ENST00000366560.3	Missense_Mutation	SNP	1 : 241676958 - 241676958 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	723	189
ATAD3A	55210	broad.mit.edu	37	1	1455928	1455928	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1455928G>A	ENST00000378755.5	+	7	919	c.825G>A	c.(823-825)agG>agA	p.R275R	ATAD3A_ENST00000536055.1_Splice_Site_p.R148R|ATAD3A_ENST00000378756.3_Splice_Site_p.R227R	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	275							ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		TTCCCCGCAGGACGGCTGGCA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	94	100			NA	NA	1		NA											NA				1455928		2203	4298	6501	SO:0001630	splice_region_variant			AK025865	CCDS31.1, CCDS53259.1, CCDS53260.1	1p36.33	2010-04-21		2007-02-08	ENSG00000197785	ENSG00000197785	55210	55210		ATPases / AAA-type	25567	protein-coding gene	gene with protein product		612316			NA	12477932	Standard	NM_018188	NM_018188	NA	Approved	FLJ10709	uc001afz.2	Q9NVI7	OTTHUMG00000000575	ENST00000378755.5:c.825-1G>A	1.37:g.1455928G>A		NA	Q5SV23|Q8N275|Q96A50	37	CCDS31.1	.	.	.	.	.	.	.	.	.	.	-	9.381	1.073035	0.20147	.	.	ENSG00000197785	ENST00000339113	.	.	.	4.42	4.42	0.53409	.	.	.	.	.	T	0.71592	0.3358	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71702	-0.4513	4	.	.	.	.	16.3539	0.83228	0.0:0.0:1.0:0.0	.	.	.	.	N	213	.	.	D	+	1	0	ATAD3A	1445791	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	7.720000	0.84759	2.185000	0.69588	0.561000	0.74099	GAC	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000001365.1	Silent	+	ENST00000378755.5	Splice_Site	SNP	1 : 1455928 - 1455928 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	516	117
KIAA0947	0	broad.mit.edu	37	5	5464772	5464772	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5464772C>T	ENST00000296564.7	+	13	5547	c.5325C>T	c.(5323-5325)ctC>ctT	p.L1775L		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN		1775										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						ATATTCAACTCACACGAGGTC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	35	35			NA	NA	5		NA											NA				5464772		1909	4116	6025	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000296564.7:c.5325C>T	5.37:g.5464772C>T		NA	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	37	CCDS47187.1																																																																																			KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365575.1		+	ENST00000296564.7	Silent	SNP	5 : 5464772 - 5464772 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	133	16
FASTK	10922	broad.mit.edu	37	7	150775933	150775933	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150775933C>T	ENST00000297532.6	-	3	758	c.681G>A	c.(679-681)ctG>ctA	p.L227L	FASTK_ENST00000489884.1_Intron|FASTK_ENST00000353841.2_Silent_p.L86L|FASTK_ENST00000540185.1_Intron|FASTK_ENST00000482571.1_Intron	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	227					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		CAGCACCTGCCAGGCTGCTGA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	27	26			NA	NA	7		NA											NA				150775933		2202	4299	6501	SO:0001819	synonymous_variant				CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			ENSG00000164896	ENSG00000164896	10922	10922			24676	protein-coding gene	gene with protein product		606965			NA	7544399, 15572676	Standard	NM_006712	NM_006712	NA	Approved	FAST	uc003wix.2	Q14296	OTTHUMG00000158694	ENST00000297532.6:c.681G>A	7.37:g.150775933C>T		NA	A8K867	37	CCDS5918.1																																																																																			FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351832.2		-	ENST00000297532.6	Silent	SNP	7 : 150775933 - 150775933 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	213	42
HECW2	57520	broad.mit.edu	37	2	197298094	197298094	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197298094C>A	ENST00000260983.3	-	2	236	c.54G>T	c.(52-54)caG>caT	p.Q18H		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	NA					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TGTACCGCATCTGGGGATTTC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	68	71			NA	NA	2		NA											NA				197298094		2203	4300	6503	SO:0001583	missense			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411	57520	57520			29853	protein-coding gene	gene with protein product					NA	10718198, 12890487	Standard	NM_020760	NM_020760	NA	Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.54G>T	2.37:g.197298094C>A	ENSP00000260983:p.Gln18His	NA	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	37	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	8.308	0.821395	0.16678	.	.	ENSG00000138411	ENST00000260983;ENST00000452031;ENST00000427457	T;T;T	0.35973	1.28;1.28;1.28	5.27	3.43	0.39272	.	0.219450	0.41001	N	0.000968	T	0.17746	0.0426	N	0.08118	0	0.29858	N	0.827875	B	0.02656	0.0	B	0.04013	0.001	T	0.09465	-1.0673	10	0.38643	T	0.18	.	8.2327	0.31608	0.1562:0.7657:0.0:0.0782	.	18	Q9P2P5	HECW2_HUMAN	H	18	ENSP00000260983:Q18H;ENSP00000409918:Q18H;ENSP00000395770:Q18H	ENSP00000260983:Q18H	Q	-	3	2	HECW2	197006339	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.697000	0.37784	0.758000	0.33059	0.561000	0.74099	CAG	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335199.3		-	ENST00000260983.3	Missense_Mutation	SNP	2 : 197298094 - 197298094 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	440	13
PARP4	143	broad.mit.edu	37	13	25008755	25008755	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25008755G>A	ENST00000381989.3	-	31	4629	c.4524C>T	c.(4522-4524)ctC>ctT	p.L1508L		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1508					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GACTTCCTTCGAGACTGCCTA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	73	72			NA	NA	13		NA											NA				25008755		2203	4300	6503	SO:0001819	synonymous_variant			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699	143	143		Poly (ADP-ribose) polymerases	271	protein-coding gene	gene with protein product	von Willebrand factor A domain containing 5C	607519	ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1	ADPRTL1	NA	10644454	Standard	NM_006437	NM_006437	NA	Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.4524C>T	13.37:g.25008755G>A		NA	O75903|Q14682|Q5QNZ9|Q9H1M6	37	CCDS9307.1																																																																																			PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044189.1		-	ENST00000381989.3	Silent	SNP	13 : 25008755 - 25008755 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	51
PLIN3	10226	broad.mit.edu	37	19	4852162	4852162	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4852162G>A	ENST00000592528.1	-	5	525	c.464C>T	c.(463-465)tCc>tTc	p.S155F	PLIN3_ENST00000585479.1_Missense_Mutation_p.S167F|PLIN3_ENST00000221957.4_Missense_Mutation_p.S167F			O60664	PLIN3_HUMAN	perilipin 3	167					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	GGTCACTACGGACTTTGTCTT	0.657		NA									OREG0025175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	58	64			NA	NA	19		NA											NA				4852162		2203	4300	6503	SO:0001583	missense			AF051314	CCDS12137.1, CCDS59337.1, CCDS59338.1	19p13.3	2009-08-12	2009-08-12	2009-08-12		ENSG00000105355	10226	10226		Perilipins	16893	protein-coding gene	gene with protein product	cargo selection protein (mannose 6 phosphate receptor binding protein), placental protein 17, MPR-BINDING PROTEIN, 47-KD	602702	mannose-6-phosphate receptor binding protein 1	M6PRBP1	NA	9590177, 6856484, 19638644	Standard	NM_005817	NM_005817	NA	Approved	TIP47, PP17	uc002mbj.2	O60664		ENST00000592528.1:c.464C>T	19.37:g.4852162G>A	ENSP00000467803:p.Ser155Phe	622	A8K4Y9|Q53G77|Q9BS03|Q9UBD7|Q9UP92	37	CCDS59337.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532738	0.45073	.	.	ENSG00000105355	ENST00000221957	T	0.04275	3.66	4.95	2.69	0.31865	.	0.679439	0.14052	U	0.344650	T	0.23766	0.0575	M	0.83953	2.67	0.35540	D	0.802987	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.28964	-1.0027	10	0.87932	D	0	-11.6118	14.4207	0.67180	0.0:0.2818:0.7182:0.0	.	167;167	O60664-3;O60664	.;PLIN3_HUMAN	F	167	ENSP00000221957:S167F	ENSP00000221957:S167F	S	-	2	0	PLIN3	4803162	0.976000	0.34144	0.095000	0.20976	0.014000	0.08584	2.719000	0.47244	0.425000	0.26087	0.555000	0.69702	TCC	PLIN3-007	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450437.1		-	ENST00000592528.1	Missense_Mutation	SNP	19 : 4852162 - 4852162 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	225	26
EPHB6	2051	broad.mit.edu	37	7	142564791	142564791	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142564791G>A	ENST00000392957.2	+	11	2502	c.1715G>A	c.(1714-1716)gGg>gAg	p.G572E	EPHB6_ENST00000411471.2_Missense_Mutation_p.G295E|EPHB6_ENST00000442129.1_Missense_Mutation_p.G572E	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	572	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGCCCCTACGGGGGCAAAGTC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	39	38			NA	NA	7		NA											NA				142564791		2203	4300	6503	SO:0001583	missense			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123	NA	2051		EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3396	protein-coding gene	gene with protein product		602757	EphB6		NA		Standard		XM_006715881	NA	Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1715G>A	7.37:g.142564791G>A	ENSP00000376684:p.Gly572Glu	NA	A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	37	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878146	0.91664	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.53640	0.61;0.61;0.61	5.12	5.12	0.69794	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.49305	D	0.000155	T	0.66577	0.2803	M	0.62723	1.935	0.46458	D	0.999051	D;D	0.76494	0.999;0.998	D;P	0.70487	0.969;0.9	T	0.70132	-0.4956	10	0.87932	D	0	.	17.5466	0.87864	0.0:0.0:1.0:0.0	.	572;295	O15197;O15197-2	EPHB6_HUMAN;.	E	572;572;295	ENSP00000376684:G572E;ENSP00000410789:G572E;ENSP00000409061:G295E	ENSP00000376684:G572E	G	+	2	0	EPHB6	142274913	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	9.395000	0.97266	2.368000	0.80403	0.555000	0.69702	GGG	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341329.1		+	ENST00000392957.2	Missense_Mutation	SNP	7 : 142564791 - 142564791 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	403	79
KBTBD8	84541	broad.mit.edu	37	3	67054530	67054530	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:67054530G>T	ENST00000417314.2	+	3	1188	c.1139G>T	c.(1138-1140)aGa>aTa	p.R380I	KBTBD8_ENST00000295568.4_Missense_Mutation_p.R354I|KBTBD8_ENST00000460576.1_Intron			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	380										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CTTCGAGCCAGAATAGGCTGC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	133	135			NA	NA	3		NA											NA				67054530		2203	4300	6503	SO:0001583	missense			AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376	84541	84541		BTB/POZ domain containing	30691	protein-coding gene	gene with protein product	T-cell activation kelch repeat protein				NA	11347906	Standard	NM_032505	NM_032505	NA	Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1139G>T	3.37:g.67054530G>T	ENSP00000401878:p.Arg380Ile	NA	Q96JI5	37	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530339	0.85706	.	.	ENSG00000163376	ENST00000295568;ENST00000417314	T;T	0.79352	-1.26;-1.26	5.36	5.36	0.76844	Kelch-type beta propeller (1);	0.043526	0.85682	D	0.000000	D	0.91088	0.7195	H	0.96269	3.795	0.80722	D	1	D	0.53462	0.96	P	0.57776	0.827	D	0.93569	0.6902	9	.	.	.	.	19.4459	0.94847	0.0:0.0:1.0:0.0	.	380	Q8NFY9	KBTB8_HUMAN	I	354;380	ENSP00000295568:R354I;ENSP00000401878:R380I	.	R	+	2	0	KBTBD8	67137220	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.772000	0.98984	2.676000	0.91093	0.557000	0.71058	AGA	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352189.1		+	ENST00000417314.2	Missense_Mutation	SNP	3 : 67054530 - 67054530 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	632	123
VAV1	7409	broad.mit.edu	37	19	6820720	6820720	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6820720G>A	ENST00000304076.2	+	2	306	c.212G>A	c.(211-213)tGc>tAc	p.C71Y	VAV1_ENST00000602142.1_Missense_Mutation_p.C71Y|VAV1_ENST00000539284.1_Missense_Mutation_p.C6Y|VAV1_ENST00000596764.1_Missense_Mutation_p.C71Y|VAV1_ENST00000599806.1_Missense_Mutation_p.C16Y	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	71	CH.|Leu-rich.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CAGTTCCTGTGCCTTAAGAAC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	131	138			NA	NA	19		NA											NA				6820720		2203	4300	6503	SO:0001583	missense				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968	7409	7409		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing, SH2 domain containing	12657	protein-coding gene	gene with protein product		164875	vav 1 oncogene	VAV	NA	9438848	Standard		NM_005428	NA	Approved		uc010xjh.2	P15498		ENST00000304076.2:c.212G>A	19.37:g.6820720G>A	ENSP00000302269:p.Cys71Tyr	NA	Q15860	37	CCDS59341.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860052	0.71834	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.42131	0.98;0.98	4.76	4.76	0.60689	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.62829	0.2460	M	0.69358	2.11	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;0.996;1.0	T	0.67209	-0.5728	10	0.87932	D	0	.	15.256	0.73585	0.0:0.0:1.0:0.0	.	6;71;16;71	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	Y	71;6	ENSP00000302269:C71Y;ENSP00000443242:C6Y	ENSP00000302269:C71Y	C	+	2	0	VAV1	6771720	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	9.410000	0.97335	2.212000	0.71576	0.484000	0.47621	TGC	VAV1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458474.1		+	ENST00000304076.2	Missense_Mutation	SNP	19 : 6820720 - 6820720 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	670	156
LCT	3938	broad.mit.edu	37	2	136569955	136569955	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136569955C>T	ENST00000264162.2	-	7	2289	c.2279G>A	c.(2278-2280)gGg>gAg	p.G760E		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	760	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)		TTCACTTTCCCCTATGGGCAT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	102	102			NA	NA	2		NA											NA				136569955		2203	4300	6503	SO:0001583	missense			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.2279G>A	2.37:g.136569955C>T	ENSP00000264162:p.Gly760Glu	NA	Q4ZG58	37	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	1.426	-0.571513	0.03882	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.29655	1.56	5.36	1.61	0.23674	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.196938	0.43110	D	0.000601	T	0.11665	0.0284	N	0.12746	0.255	0.38293	D	0.942758	B	0.10296	0.003	B	0.18871	0.023	T	0.25502	-1.0130	10	0.02654	T	1	-13.6472	5.1686	0.15098	0.0:0.4355:0.2938:0.2706	.	760	P09848	LPH_HUMAN	E	760;192	ENSP00000264162:G760E	ENSP00000264162:G760E	G	-	2	0	LCT	136286425	0.931000	0.31567	0.996000	0.52242	0.975000	0.68041	1.299000	0.33424	0.591000	0.29711	0.655000	0.94253	GGG	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254657.1		-	ENST00000264162.2	Missense_Mutation	SNP	2 : 136569955 - 136569955 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	645	64
NSUN4	387338	broad.mit.edu	37	1	46827244	46827244	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46827244C>A	ENST00000474844.1	+	6	1531	c.881C>A	c.(880-882)gCt>gAt	p.A294D	NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000537428.1_Missense_Mutation_p.A245D|NSUN4_ENST00000536062.1_Missense_Mutation_p.A245D	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	294							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					GGTTTCAGGGCTGGACTCCTT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	112	119			NA	NA	1		NA											NA				46827244		2203	4300	6503	SO:0001583	missense			AK021577	CCDS534.1, CCDS57996.1	1p34	2012-02-24	2009-11-23		ENSG00000117481	ENSG00000117481	387338	387338		NOP2/Sun domain containing	31802	protein-coding gene	gene with protein product	sperm head and tail associated protein	615394	NOL1/NOP2/Sun domain family 4, NOL1/NOP2/Sun domain family, member 4		NA		Standard	NM_199044	NM_199044	NA	Approved	MGC22960, SHTAP	uc001cpr.2	Q96CB9	OTTHUMG00000007808	ENST00000474844.1:c.881C>A	1.37:g.46827244C>A	ENSP00000419740:p.Ala294Asp	NA	A8K6S6|Q5TDF7|Q96AN8|Q9HAJ8	37	CCDS534.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304266	0.81136	.	.	ENSG00000117481	ENST00000474844;ENST00000536062;ENST00000537428	T;T;T	0.27402	1.67;1.67;1.67	5.43	5.43	0.79202	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.000000	0.85682	D	0.000000	T	0.58308	0.2113	M	0.84082	2.675	0.80722	D	1	D;D	0.65815	0.995;0.985	D;P	0.63877	0.919;0.889	T	0.61821	-0.6984	10	0.62326	D	0.03	-13.8516	17.5969	0.88014	0.0:1.0:0.0:0.0	.	161;294	B3KUM0;Q96CB9	.;NSUN4_HUMAN	D	294;245;245	ENSP00000419740:A294D;ENSP00000438912:A245D;ENSP00000437758:A245D	ENSP00000419740:A294D	A	+	2	0	NSUN4	46599831	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.235000	0.72332	2.824000	0.97209	0.655000	0.94253	GCT	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021427.1		+	ENST00000474844.1	Missense_Mutation	SNP	1 : 46827244 - 46827244 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	333	37
EFEMP1	2202	broad.mit.edu	37	2	56094325	56094325	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56094325T>C	ENST00000394555.2	-	11	1800	c.1365A>G	c.(1363-1365)ttA>ttG	p.L455L	EFEMP1_ENST00000355426.3_Silent_p.L455L|EFEMP1_ENST00000424836.2_Silent_p.L317L|EFEMP1_ENST00000394554.1_Silent_p.L455L	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	455	Mediates interaction with TIMP3.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TTGGTCCTGATAATGACTTCA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(92;934 1319 7714 28760 40110)							NA				0													108	90	96			NA	NA	2		NA											NA				56094325		2203	4300	6503	SO:0001819	synonymous_variant			U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380	2202	2202		Fibulins	3218	protein-coding gene	gene with protein product	fibulin 3	601548	fibrillin-like, EGF-containing fibulin-like extracellular matrix protein 1	DHRD, FBNL	NA	8812496, 7799918	Standard		NM_001039348	NA	Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.1365A>G	2.37:g.56094325T>C		NA	A8K3I4|D6W5D2|Q541U7	37	CCDS1857.1																																																																																			EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251491.2		-	ENST00000394555.2	Silent	SNP	2 : 56094325 - 56094325 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	399	101
KAT7	11143	broad.mit.edu	37	17	47875874	47875874	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47875874C>T	ENST00000259021.4	+	4	814	c.534C>T	c.(532-534)agC>agT	p.S178S	KAT7_ENST00000503935.2_Silent_p.S22S|KAT7_ENST00000435742.2_Silent_p.S22S|KAT7_ENST00000509773.1_Intron|KAT7_ENST00000510819.1_Intron|KAT7_ENST00000454930.2_Intron|KAT7_ENST00000424009.2_Silent_p.S178S	NM_007067.4	NP_008998.1	O95251	MYST2_HUMAN	K(lysine) acetyltransferase 7	178					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				NA						TCCATGAAAGCTACAACTTCA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	114	119			NA	NA	17		NA											NA				47875874		2203	4300	6503	SO:0001819	synonymous_variant			AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	11143	11143	2.3.1.48	Chromatin-modifying enzymes / K-acetyltransferases, Zinc fingers, C2HC-type containing	17016	protein-coding gene	gene with protein product	histone acetyltransferase binding to ORC1	609880	MYST histone acetyltransferase 2	MYST2	NA	10438470, 10930412	Standard	NM_007067	NM_001199155	NA	Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.534C>T	17.37:g.47875874C>T		NA	B3KN74	37	CCDS11554.1																																																																																			KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366032.1		+	ENST00000259021.4	Silent	SNP	17 : 47875874 - 47875874 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	467	95
RYR1	6261	broad.mit.edu	37	19	39013945	39013945	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39013945C>A	ENST00000355481.4	+	69	10567	c.10436C>A	c.(10435-10437)gCt>gAt	p.A3479D	RYR1_ENST00000359596.3_Missense_Mutation_p.A3479D|RYR1_ENST00000360985.3_Missense_Mutation_p.A3479D	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3479					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)	AGCAAAATGGCTAAGGTCGGG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	111	118			NA	NA	19		NA											NA				39013945		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.10436C>A	19.37:g.39013945C>A	ENSP00000347667:p.Ala3479Asp	NA	Q16314|Q16368|Q9NPK1|Q9P1U4	37	CCDS42563.1	.	.	.	.	.	.	.	.	.	.	C	5.634	0.301591	0.10678	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.96885	-4.16;-4.14;-4.16	2.68	2.68	0.31781	.	0.330102	0.27147	U	0.020710	D	0.91327	0.7265	L	0.34521	1.04	0.37387	D	0.912296	P;P;B	0.36535	0.557;0.557;0.075	B;B;B	0.25140	0.058;0.058;0.023	D	0.92745	0.6211	10	0.62326	D	0.03	.	13.3384	0.60530	0.0:1.0:0.0:0.0	.	3479;3479;3479	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	D	3479;3479;3479;399	ENSP00000352608:A3479D;ENSP00000347667:A3479D;ENSP00000354254:A3479D	ENSP00000347667:A3479D	A	+	2	0	RYR1	43705785	1.000000	0.71417	1.000000	0.80357	0.157000	0.22087	4.622000	0.61240	1.524000	0.49035	0.313000	0.20887	GCT	RYR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461017.2		+	ENST00000355481.4	Missense_Mutation	SNP	19 : 39013945 - 39013945 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	663	31
TTN	7273	broad.mit.edu	37	2	179485295	179485295	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179485295G>A	ENST00000589042.1	-	248	46177	c.45953C>T	c.(45952-45954)tCt>tTt	p.S15318F	TTN_ENST00000591111.1_Missense_Mutation_p.S13677F|TTN_ENST00000359218.5_Missense_Mutation_p.S6378F|TTN_ENST00000342175.6_Missense_Mutation_p.S6445F|TTN_ENST00000342992.6_Missense_Mutation_p.S12750F|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S6253F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13677	Ig-like 97.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAATGTGACAGATTTCTTCTC	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	86	88			NA	NA	2		NA											NA				179485295		1881	4106	5987	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.45953C>T	2.37:g.179485295G>A	ENSP00000467141:p.Ser15318Phe	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.240404	0.39598	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.9	5.9	0.94986	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55386	0.1917	M	0.65677	2.01	0.44221	D	0.997059	B;B;B;B	0.31274	0.171;0.317;0.317;0.171	B;B;B;B	0.36418	0.09;0.13;0.224;0.207	T	0.56709	-0.7934	9	0.87932	D	0	.	20.2723	0.98479	0.0:0.0:1.0:0.0	.	6253;6378;6445;13677	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	12750;6253;6445;6378;6253	ENSP00000343764:S12750F;ENSP00000434586:S6253F;ENSP00000340554:S6445F;ENSP00000352154:S6378F	ENSP00000340554:S6445F	S	-	2	0	TTN	179193540	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.632000	0.67819	2.793000	0.96121	0.563000	0.77884	TCT	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179485295 - 179485295 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	325	89
PKP4	8502	broad.mit.edu	37	2	159537009	159537009	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:159537009G>A	ENST00000389757.3	+	21	3395	c.3270G>A	c.(3268-3270)ttG>ttA	p.L1090L	AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389759.3_Silent_p.L1133L|AC005042.4_ENST00000442666.1_RNA	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	1133					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GATTGTATTTGCAGTCTCCTC	0.363		NA								HNSCC(62;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	105	107			NA	NA	2		NA											NA				159537009		2203	4300	6503	SO:0001819	synonymous_variant			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283	8502	8502		Armadillo repeat containing	9026	protein-coding gene	gene with protein product		604276			NA	9342840, 8937994	Standard		NM_003628	NA	Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389757.3:c.3270G>A	2.37:g.159537009G>A		NA	Q86W91	37	CCDS33306.1																																																																																			PKP4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333249.1		+	ENST00000389757.3	Silent	SNP	2 : 159537009 - 159537009 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	614	158
AFF2	2334	broad.mit.edu	37	X	148035155	148035155	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:148035155C>T	ENST00000370460.2	+	10	1922	c.1443C>T	c.(1441-1443)agC>agT	p.S481S	AFF2_ENST00000342251.3_Silent_p.S448S|AFF2_ENST00000286437.5_Silent_p.S122S|AFF2_ENST00000370457.5_Silent_p.S448S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	481					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TGCAAGCCAGCGGGGGTTCTG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	88	87			NA	NA	X		NA											NA				148035155		2203	4300	6503	SO:0001819	synonymous_variant			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966	2334	2334			3776	protein-coding gene	gene with protein product		300806	fragile X mental retardation 2	FMR2	NA		Standard	NM_002025	NM_002025	NA	Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1443C>T	X.37:g.148035155C>T		NA	A2RTY4|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	37	CCDS14684.1																																																																																			AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058673.2		+	ENST00000370460.2	Silent	SNP	X : 148035155 - 148035155 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	737	93
FLG	2312	broad.mit.edu	37	1	152281939	152281939	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152281939T>C	ENST00000368799.1	-	3	5458	c.5423A>G	c.(5422-5424)gAg>gGg	p.E1808G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1808	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCTGACCCTCTTGGGACGC	0.597		NA							Ichthyosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													330	340	337			NA	NA	1		NA											NA				152281939		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631	2312	2312		EF-hand domain containing	3748	protein-coding gene	gene with protein product		135940			NA	2740331, 2248957, 16444271	Standard	NM_002016	NM_002016	NA	Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5423A>G	1.37:g.152281939T>C	ENSP00000357789:p.Glu1808Gly	NA	Q01720|Q5T583|Q9UC71	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	T	6.540	0.467921	0.12402	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.01745	4.66	2.15	-0.104	0.13605	.	.	.	.	.	T	0.02380	0.0073	M	0.75447	2.3	0.09310	N	1	D	0.57899	0.981	D	0.67900	0.954	T	0.41215	-0.9521	9	0.38643	T	0.18	-1.1804	4.4071	0.11414	0.0:0.5757:0.0:0.4243	.	1808	P20930	FILA_HUMAN	G	1808;43	ENSP00000357789:E1808G	ENSP00000271820:E43G	E	-	2	0	FLG	150548563	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.205000	0.09411	-0.012000	0.14223	0.378000	0.23410	GAG	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033742.1		-	ENST00000368799.1	Missense_Mutation	SNP	1 : 152281939 - 152281939 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2554	496
GABRE	2564	broad.mit.edu	37	X	151124015	151124015	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151124015G>A	ENST00000370325.1	-	8	1015	c.962C>T	c.(961-963)aCc>aTc	p.T321I	GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.T321I			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	321					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.T321I(1)|p.T208I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GCCCAACGTGGTCATGGTCAG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(2)											108	92	98			NA	NA	X		NA											NA				151124015		2203	4300	6503	SO:0001583	missense			Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287	2564	2564		GABA receptors, Ligand-gated ion channels / GABA(A) receptors	4085	protein-coding gene	gene with protein product	GABA(A) receptor, epsilon	300093			NA	9039914, 9084408	Standard	NM_004961, NM_021990, NM_021984	NM_004961	NA	Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370325.1:c.962C>T	X.37:g.151124015G>A	ENSP00000359350:p.Thr321Ile	NA	O15345|O15346|Q99520	37		.	.	.	.	.	.	.	.	.	.	G	19.26	3.793592	0.70452	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	D;D	0.93763	-3.28;-3.28	5.93	5.93	0.95920	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.64402	D	0.000020	D	0.94751	0.8306	L	0.41415	1.275	0.80722	D	1	D	0.63880	0.993	D	0.65874	0.939	D	0.95260	0.8368	10	0.87932	D	0	.	16.4778	0.84137	0.0:0.0:1.0:0.0	.	321	P78334	GBRE_HUMAN	I	321	ENSP00000359353:T321I;ENSP00000359350:T321I	ENSP00000359350:T321I	T	-	2	0	GABRE	150874671	1.000000	0.71417	0.999000	0.59377	0.215000	0.24574	9.869000	0.99810	2.498000	0.84270	0.600000	0.82982	ACC	GABRE-002	NOVEL	non_canonical_other|basic	protein_coding	NA	protein_coding	OTTHUMT00000060904.1		-	ENST00000370325.1	Missense_Mutation	SNP	X : 151124015 - 151124015 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	89
BAZ2B	29994	broad.mit.edu	37	2	160287620	160287620	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160287620C>A	ENST00000392783.2	-	10	2443	c.1948G>T	c.(1948-1950)Gat>Tat	p.D650Y	BAZ2B_ENST00000355831.2_Missense_Mutation_p.D650Y|BAZ2B_ENST00000343439.5_Intron|BAZ2B_ENST00000392782.1_Missense_Mutation_p.D648Y	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	650	Asp/Glu-rich (acidic).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TCATCATCATCTTCTTCTTCT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	146	151			NA	NA	2		NA											NA				160287620		1880	4110	5990	SO:0001583	missense			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636	29994	29994		Zinc fingers, PHD-type	963	protein-coding gene	gene with protein product		605683			NA	10662543	Standard		XM_005246488	NA	Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.1948G>T	2.37:g.160287620C>A	ENSP00000376534:p.Asp650Tyr	NA	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	37	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356178	0.41700	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831	T;T;T	0.08984	3.03;3.03;3.03	5.37	5.37	0.77165	.	0.197372	0.24031	U	0.042184	T	0.12092	0.0294	L	0.29908	0.895	0.80722	D	1	P;P;P	0.50528	0.936;0.936;0.894	P;P;B	0.48141	0.568;0.568;0.365	T	0.01504	-1.1338	10	0.72032	D	0.01	-13.5492	17.2848	0.87138	0.0:1.0:0.0:0.0	.	454;648;650	Q9UIF8-4;Q9UIF8-5;Q9UIF8	.;.;BAZ2B_HUMAN	Y	648;650;650	ENSP00000376533:D648Y;ENSP00000376534:D650Y;ENSP00000348087:D650Y	ENSP00000348087:D650Y	D	-	1	0	BAZ2B	159995866	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.806000	0.55583	2.514000	0.84764	0.643000	0.83706	GAT	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255037.2		-	ENST00000392783.2	Missense_Mutation	SNP	2 : 160287620 - 160287620 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	246	83
EXOSC8	11340	broad.mit.edu	37	13	37582916	37582916	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37582916G>T	ENST00000389704.3	+	10	924	c.659G>T	c.(658-660)gGa>gTa	p.G220V		NM_181503.2	NP_852480.1	Q96B26	EXOS8_HUMAN	exosome component 8	220					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	AU-rich element binding|identical protein binding			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		CTGGCAACAGGAACCTTAACA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	82	85			NA	NA	13		NA											NA				37582916		2203	4300	6503	SO:0001583	missense			AF025438	CCDS31958.1	13q13.1	2010-05-07			ENSG00000120699	ENSG00000120699	11340	11340	3.1.13.-		17035	protein-coding gene	gene with protein product	CBP-interacting protein 3, Opa interacting protein 2	606019			NA	9466265, 11929972	Standard	NM_181503	NM_181503	NA	Approved	OIP2, RRP43, bA421P11.3, Rrp43p, EAP2, p9, CIP3	uc001uwa.3	Q96B26	OTTHUMG00000016742	ENST00000389704.3:c.659G>T	13.37:g.37582916G>T	ENSP00000374354:p.Gly220Val	NA	O43480|Q5TBA5	37	CCDS31958.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181058	0.78677	.	.	ENSG00000120699	ENST00000389704;ENST00000379809	T	0.52526	0.66	5.74	5.74	0.90152	Exoribonuclease, phosphorolytic domain 2 (2);	0.098049	0.64402	D	0.000001	T	0.75882	0.3910	M	0.91300	3.195	0.80722	D	1	P;D	0.71674	0.858;0.998	P;D	0.67382	0.732;0.951	T	0.79729	-0.1681	10	0.54805	T	0.06	-21.2381	19.9173	0.97066	0.0:0.0:1.0:0.0	.	192;220	Q5JXM0;Q96B26	.;EXOS8_HUMAN	V	220;192	ENSP00000374354:G220V	ENSP00000369137:G192V	G	+	2	0	EXOSC8	36480916	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	6.849000	0.75414	2.707000	0.92482	0.563000	0.77884	GGA	EXOSC8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044535.2		+	ENST00000389704.3	Missense_Mutation	SNP	13 : 37582916 - 37582916 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	268	40
VSTM1	284415	broad.mit.edu	37	19	54544247	54544247	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54544247C>A	ENST00000338372.2	-	9	854	c.679G>T	c.(679-681)Gga>Tga	p.G227*	VSTM1_ENST00000366170.2_Nonsense_Mutation_p.G139*|VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000376626.1_Nonsense_Mutation_p.G196*	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	227						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		TCATGAGATCCTGGGGGCTCC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	57	58			NA	NA	19		NA											NA				54544247		2203	4300	6503	SO:0001587	stop_gained			AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068	284415	284415		Immunoglobulin superfamily / Immunoglobulin-like domain containing	29455	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_198481	NM_198481	NA	Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.679G>T	19.37:g.54544247C>A	ENSP00000343366:p.Gly227*	NA	D2DJS3|Q496B6|Q496B7	37	CCDS12872.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006827	0.35415	.	.	ENSG00000189068	ENST00000419106;ENST00000338372;ENST00000376626;ENST00000366170	.	.	.	2.63	0.503	0.16940	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	4.7657	0.13130	0.0:0.6976:0.0:0.3024	.	.	.	.	X	117;227;196;139	.	ENSP00000343366:G227X	G	-	1	0	VSTM1	59236059	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.748000	0.26305	0.222000	0.20900	-0.259000	0.10710	GGA	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000139358.3		-	ENST00000338372.2	Nonsense_Mutation	SNP	19 : 54544247 - 54544247 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	222	37
ZNF675	171392	broad.mit.edu	37	19	23837503	23837503	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23837503A>C	ENST00000359788.4	-	4	400	c.232T>G	c.(232-234)Tgt>Ggt	p.C78G	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	78					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AAATGAGAACACATTACTGAA	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	27	26			NA	NA	19		NA											NA				23837503		2187	4272	6459	SO:0001583	missense				CCDS32981.1	19p12	2013-01-08					171392	171392		Zinc fingers, C2H2-type, -	30768	protein-coding gene	gene with protein product	TRAF6 inhibitory zinc finger				NA	11751921	Standard	NM_138330	NM_138330	NA	Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.232T>G	19.37:g.23837503A>C	ENSP00000352836:p.Cys78Gly	NA	Q8N211	37	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	5.278	0.236659	0.10023	.	.	ENSG00000197372	ENST00000359788	T	0.07444	3.19	0.458	0.458	0.16670	.	.	.	.	.	T	0.10423	0.0255	M	0.76170	2.325	0.19575	N	0.999961	B	0.17667	0.023	B	0.20577	0.03	T	0.33163	-0.9879	8	0.25751	T	0.34	.	.	.	.	.	78	Q8TD23	ZN675_HUMAN	G	78	ENSP00000352836:C78G	ENSP00000352836:C78G	C	-	1	0	ZNF675	23629343	0.312000	0.24545	0.016000	0.15963	0.014000	0.08584	0.397000	0.20883	0.407000	0.25591	0.397000	0.26171	TGT	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466433.1		-	ENST00000359788.4	Missense_Mutation	SNP	19 : 23837503 - 23837503 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	215	19
SLC25A21	89874	broad.mit.edu	37	14	37194861	37194861	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:37194861C>T	ENST00000331299.5	-	6	867	c.352G>A	c.(352-354)Gga>Aga	p.G118R	SLC25A21_ENST00000555449.1_Missense_Mutation_p.G118R	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	118					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		AGTCCAGATCCCAATCCAGCA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	89	91			NA	NA	14		NA											NA				37194861		2203	4300	6503	SO:0001583	missense			AJ278148	CCDS9663.1, CCDS55913.1	14q13.3	2014-01-28	2012-03-29		ENSG00000183032	ENSG00000183032	89874	89874		Solute carriers	14411	protein-coding gene	gene with protein product		607571	solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21		NA	11083877	Standard	NM_030631	NM_030631	NA	Approved	ODC1, ODC	uc001wtz.2	Q9BQT8	OTTHUMG00000140250	ENST00000331299.5:c.352G>A	14.37:g.37194861C>T	ENSP00000329452:p.Gly118Arg	NA	Q3MJ99	37	CCDS9663.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440300	0.63067	.	.	ENSG00000183032	ENST00000555449;ENST00000331299	T;T	0.79033	-1.23;-1.23	5.43	5.43	0.79202	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.90957	0.7157	H	0.95004	3.61	0.80722	D	1	D	0.58620	0.983	D	0.66497	0.944	D	0.90820	0.4708	10	0.31617	T	0.26	-10.3573	19.3129	0.94198	0.0:1.0:0.0:0.0	.	118	Q9BQT8	ODC_HUMAN	R	118	ENSP00000451873:G118R;ENSP00000329452:G118R	ENSP00000329452:G118R	G	-	1	0	SLC25A21	36264612	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.937000	0.70162	2.565000	0.86533	0.644000	0.83932	GGA	SLC25A21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276732.2		-	ENST00000331299.5	Missense_Mutation	SNP	14 : 37194861 - 37194861 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	350	74
TECTA	7007	broad.mit.edu	37	11	121031011	121031011	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121031011C>T	ENST00000392793.1	+	15	5128	c.4857C>T	c.(4855-4857)tgC>tgT	p.C1619C	TECTA_ENST00000264037.2_Silent_p.C1619C			O75443	TECTA_HUMAN	tectorin alpha	1619	VWFD 4.		C -> S (in DFNA12; dbSNP:rs28939691).		cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACAAAGTGTGCGGTCTCTGTG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	129	131			NA	NA	11		NA											NA				121031011		2203	4299	6502	SO:0001819	synonymous_variant			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927	7007	7007			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21	NA	9503015, 9590290	Standard	NM_005422	NM_005422	NA	Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4857C>T	11.37:g.121031011C>T		NA		37	CCDS8434.1																																																																																			TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313850.1		+	ENST00000392793.1	Silent	SNP	11 : 121031011 - 121031011 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	838	154
EGR4	1961	broad.mit.edu	37	2	73519155	73519155	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73519155G>A	ENST00000436467.2	-	2	1278	c.891C>T	c.(889-891)agC>agT	p.S297S	EGR4_ENST00000545030.1_Silent_p.S400S			B7ZKU3	B7ZKU3_HUMAN	early growth response 4	296						intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CGCCGTCGCCGCTACTCCCTC	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													10	14	13			NA	NA	2		NA											NA				73519155		2141	4241	6382	SO:0001819	synonymous_variant				CCDS1925.2	2p13	2013-01-08			ENSG00000135625	ENSG00000135625	1961	1961		Zinc fingers, C2H2-type	3241	protein-coding gene	gene with protein product		128992			NA	1584812	Standard	NM_001965	NM_001965	NA	Approved	NGFI-C, PAT133	uc010yrj.2	Q05215	OTTHUMG00000129774	ENST00000436467.2:c.891C>T	2.37:g.73519155G>A		NA		37																																																																																				EGR4-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000251990.4		-	ENST00000436467.2	Silent	SNP	2 : 73519155 - 73519155 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	144	14
TCN2	6948	broad.mit.edu	37	22	31011441	31011441	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31011441G>T	ENST00000405742.3	+	5	902	c.722G>T	c.(721-723)aGc>aTc	p.S241I	TCN2_ENST00000407817.3_Missense_Mutation_p.S218I|TCN2_ENST00000215838.3_Missense_Mutation_p.S245I	NM_000355.3	NP_000346.2	P20062	TCO2_HUMAN	transcobalamin II	245					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AATGTCTACAGCACCCCATTG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	56	58			NA	NA	22		NA											NA				31011441		2203	4300	6503	SO:0001583	missense				CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339	6948	6948			11653	protein-coding gene	gene with protein product	macrocytic anemia	613441	transcobalamin II; macrocytic anemia		NA	1708393, 7742531	Standard	NM_000355	NM_000355	NA	Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000405742.3:c.722G>T	22.37:g.31011441G>T	ENSP00000385914:p.Ser241Ile	NA	Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	37		.	.	.	.	.	.	.	.	.	.	G	17.94	3.510442	0.64522	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.49139	0.79;0.79;0.79	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.72203	0.3431	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.75505	-0.3294	10	0.87932	D	0	-30.1398	17.0097	0.86403	0.0:0.0:1.0:0.0	.	218;241;245	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	I	245;241;218	ENSP00000215838:S245I;ENSP00000385914:S241I;ENSP00000384914:S218I	ENSP00000215838:S245I	S	+	2	0	TCN2	29341441	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	5.643000	0.67895	2.756000	0.94617	0.561000	0.74099	AGC	TCN2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000321283.1		+	ENST00000405742.3	Missense_Mutation	SNP	22 : 31011441 - 31011441 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	43
MRPL10	124995	broad.mit.edu	37	17	45904115	45904115	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45904115G>A	ENST00000290208.7	-	4	902	c.450C>T	c.(448-450)taC>taT	p.Y150Y	MRPL10_ENST00000414011.1_Silent_p.Y150Y|MRPL10_ENST00000351111.2_Silent_p.Y140Y			Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	140					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						GCAGATTTTGGTACTTGGAAT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	58	60			NA	NA	17		NA											NA				45904115		2203	4300	6503	SO:0001819	synonymous_variant			AB051618	CCDS11516.1, CCDS11517.1	17q21.3	2012-09-13			ENSG00000159111	ENSG00000159111	124995	124995		Mitochondrial ribosomal proteins / large subunits	14055	protein-coding gene	gene with protein product	39S ribosomal protein L10, mitochondrial	611825			NA	11551941	Standard	NM_145255	NM_148887	NA	Approved	RPML8, MRP-L8, L10MT, MRP-L10, MRPL8, MGC17973	uc002ily.3	Q7Z7H8	OTTHUMG00000156302	ENST00000290208.7:c.450C>T	17.37:g.45904115G>A		NA	Q96B80|Q96Q55	37	CCDS11517.1																																																																																			MRPL10-003	PUTATIVE	alternative_5_UTR|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343766.1		-	ENST00000290208.7	Silent	SNP	17 : 45904115 - 45904115 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	419	73
MUS81	80198	broad.mit.edu	37	11	65631319	65631319	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65631319C>T	ENST00000308110.4	+	10	1355	c.1006C>T	c.(1006-1008)Cga>Tga	p.R336*	MUS81_ENST00000533035.1_Nonsense_Mutation_p.R261*	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	336	ERCC4.				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GGAGCGCAAGCGACTGGATGA	0.607		NA						Homologous recombination						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	101	101			NA	NA	11		NA											NA				65631319		2201	4296	6497	SO:0001587	stop_gained				CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732	80198	80198			29814	protein-coding gene	gene with protein product	SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)	606591	MUS81 endonuclease homolog (yeast), MUS81 endonuclease homolog (S. cerevisiae)		NA	11741546, 12374758	Standard	NM_025128	NM_025128	NA	Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.1006C>T	11.37:g.65631319C>T	ENSP00000307853:p.Arg336*	NA	Q9H7D9	37	CCDS8115.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.318799|6.318799	0.97471|0.97471	.|.	.|.	ENSG00000172732|ENSG00000172732	ENST00000529374;ENST00000530111|ENST00000533035;ENST00000308110;ENST00000437855	.|.	.|.	.|.	5.95|5.95	4.99|4.99	0.66335|0.66335	.|.	.|0.098845	.|0.64402	.|D	.|0.000003	T|.	0.26882|.	0.0658|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.22941|.	-1.0202|.	3|.	.|0.02654	.|T	.|1	-29.869|-29.869	11.4698|11.4698	0.50261|0.50261	0.2847:0.7153:0.0:0.0|0.2847:0.7153:0.0:0.0	.|.	.|.	.|.	.|.	V|X	261;217|261;336;336	.|.	.|ENSP00000307853:R336X	A|R	+|+	2|1	0|2	MUS81|MUS81	65387895|65387895	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.316000|0.316000	0.28119|0.28119	2.299000|2.299000	0.43611|0.43611	2.819000|2.819000	0.97034|0.97034	0.655000|0.655000	0.94253|0.94253	GCG|CGA	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390941.3		+	ENST00000308110.4	Nonsense_Mutation	SNP	11 : 65631319 - 65631319 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	692	68
POLN	353497	broad.mit.edu	37	4	2130966	2130966	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2130966G>A	ENST00000511885.2	-	18	2160	c.1807C>T	c.(1807-1809)Ctc>Ttc	p.L603F	POLN_ENST00000382865.1_Missense_Mutation_p.L603F			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	603					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			GAGATCGTGAGAATCTTGTCT	0.388		NA						DNA polymerases (catalytic subunits)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	127	132			NA	NA	4		NA											NA				2130966		2203	4300	6503	SO:0001583	missense			AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997	353497	353497		DNA polymerases	18870	protein-coding gene	gene with protein product		610887			NA	12794064	Standard	NM_181808	NM_181808	NA	Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.1807C>T	4.37:g.2130966G>A	ENSP00000435506:p.Leu603Phe	NA	A2A336|Q4TTW4|Q6ZNF4	37	CCDS3360.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.475118	0.26511	.	.	ENSG00000130997	ENST00000511885;ENST00000382865;ENST00000253313;ENST00000382857	D;D	0.96885	-4.16;-4.16	4.54	-0.924	0.10462	DNA-directed DNA polymerase, family A, palm domain (1);	1.011150	0.07936	N	0.978426	D	0.95446	0.8521	L	0.42686	1.345	0.09310	N	1	D;D;D	0.64830	0.975;0.973;0.994	P;P;D	0.63703	0.702;0.789;0.917	D	0.87240	0.2266	10	0.87932	D	0	-0.0173	1.3165	0.02108	0.2091:0.3282:0.3064:0.1563	.	134;294;603	C9JDP8;E9PE06;Q7Z5Q5	.;.;DPOLN_HUMAN	F	603;603;294;134	ENSP00000435506:L603F;ENSP00000372316:L603F	ENSP00000253313:L294F	L	-	1	0	POLN	2100764	0.023000	0.18921	0.001000	0.08648	0.019000	0.09904	0.004000	0.13106	0.098000	0.17522	0.555000	0.69702	CTC	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000205684.2		-	ENST00000511885.2	Missense_Mutation	SNP	4 : 2130966 - 2130966 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	285	46
OR2T4	127074	broad.mit.edu	37	1	248525877	248525877	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248525877C>A	ENST00000366475.1	+	1	995	c.995C>A	c.(994-996)gCt>gAt	p.A332D		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	332					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTCATGGGGGCTCTGAAGAAA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	114	112			NA	NA	1		NA											NA				248525877		2203	4300	6503	SO:0001583	missense			BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944	127074	127074		GPCR / Class A : Olfactory receptors	15016	protein-coding gene	gene with protein product					NA		Standard	NM_001004696	NM_001004696	NA	Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.995C>A	1.37:g.248525877C>A	ENSP00000355431:p.Ala332Asp	NA	Q6IEZ8	37	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087079	0.36855	.	.	ENSG00000196944	ENST00000366475	T	0.46063	0.88	3.0	2.06	0.26882	.	0.000000	0.46758	D	0.000273	T	0.62612	0.2442	M	0.89534	3.04	0.09310	N	1	D	0.57899	0.981	P	0.61592	0.891	T	0.55768	-0.8089	10	0.87932	D	0	.	7.8187	0.29276	0.1828:0.6396:0.1776:0.0	.	332	Q8NH00	OR2T4_HUMAN	D	332	ENSP00000355431:A332D	ENSP00000355431:A332D	A	+	2	0	OR2T4	246592500	0.002000	0.14202	0.502000	0.27614	0.981000	0.71138	1.341000	0.33907	0.436000	0.26393	0.585000	0.79938	GCT	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097349.2		+	ENST00000366475.1	Missense_Mutation	SNP	1 : 248525877 - 248525877 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	977	149
CRAMP1L	57585	broad.mit.edu	37	16	1719150	1719150	+	Silent	SNP	G	G	A	rs150704705	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1719150G>A	ENST00000397412.3	+	19	3582	c.3483G>A	c.(3481-3483)tcG>tcA	p.S1161S	LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_Silent_p.S536S|CRAMP1L_ENST00000436138.3_Silent_p.S1158S|CRAMP1L_ENST00000293925.5_Silent_p.S1161S			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1161	Ser-rich.					nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CCGACTCCTCGCTCAGCAGCC	0.637		NA											G	1	5e-04	NA	NA	2184	NA	0.9996	,	,	NA	3e-04	0.0013	NA	NA	6e-04	0.7052	EXOME	NA	NA	0.0019	SNP								NA				0								G		1,3975		0,1,1987	35	42	39		3483	-11.5	0.1	16	dbSNP_134	39	14,8278		0,14,4132	no	coding-synonymous	CRAMP1L	NM_020825.3		0,15,6119	AA,AG,GG	NA	0.1688,0.0252,0.1223		1161/1270	1719150	15,12253	1988	4146	6134	SO:0001819	synonymous_variant			AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545	57585	57585			14122	protein-coding gene	gene with protein product			Crm (Cramped Drosophila)-like		NA		Standard		NM_020825	NA	Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.3483G>A	16.37:g.1719150G>A		NA	A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	37	CCDS10440.2																																																																																			CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157297.4		+	ENST00000397412.3	Silent	SNP	16 : 1719150 - 1719150 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	75	12
EEF2	1938	broad.mit.edu	37	19	3977529	3977529	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3977529C>T	ENST00000309311.6	-	13	2235	c.2147G>A	c.(2146-2148)cGc>cAc	p.R716H		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	716						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)		GCCCCCTCCGCGGTGGATGGC	0.672		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													63	60	61			NA	NA	19		NA											NA				3977529		2197	4299	6496	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.2147G>A	19.37:g.3977529C>T	ENSP00000307940:p.Arg716His	NA	B2RMP5|D6W618|Q58J86	37	CCDS12117.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252365	0.80135	.	.	ENSG00000167658	ENST00000309311	T	0.37752	1.18	5.51	5.51	0.81932	Ribosomal protein S5 domain 2-type fold (1);Translation elongation factor EFG/EF2, domain IV (2);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.055071	0.64402	D	0.000002	T	0.77738	0.4175	H	0.99197	4.465	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87499	0.2432	10	0.87932	D	0	-22.9049	17.9738	0.89121	0.0:1.0:0.0:0.0	.	716	P13639	EF2_HUMAN	H	716	ENSP00000307940:R716H	ENSP00000307940:R716H	R	-	2	0	EEF2	3928529	1.000000	0.71417	0.914000	0.36105	0.082000	0.17680	7.670000	0.83925	2.585000	0.87301	0.556000	0.70494	CGC	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457615.2		-	ENST00000309311.6	Missense_Mutation	SNP	19 : 3977529 - 3977529 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	93	22
LTBP2	4053	broad.mit.edu	37	14	74971732	74971732	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74971732G>A	ENST00000556690.1	-	28	4318	c.4191C>T	c.(4189-4191)ggC>ggT	p.G1397G	LTBP2_ENST00000261978.4_Silent_p.G1441G			Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1441					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CCCAGCTAGCGCCCTGGGTGC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	64	64			NA	NA	14		NA											NA				74971732		2203	4300	6503	SO:0001819	synonymous_variant				CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681	4053	4053		Latent transforming growth factor, beta binding proteins	6715	protein-coding gene	gene with protein product		602091	chromosome 14 open reading frame 141	LTBP3, C14orf141	NA	7798248	Standard	NM_000428	NM_000428	NA	Approved		uc001xqa.3	Q14767		ENST00000556690.1:c.4191C>T	14.37:g.74971732G>A		NA	Q99907|Q9NS51	37																																																																																				LTBP2-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000413598.1		-	ENST00000556690.1	Silent	SNP	14 : 74971732 - 74971732 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	436	14
AMBN	258	broad.mit.edu	37	4	71472130	71472130	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71472130A>G	ENST00000322937.6	+	13	1130	c.1027A>G	c.(1027-1029)Aca>Gca	p.T343A	AMBN_ENST00000449493.2_Missense_Mutation_p.T328A	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	343					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			AGCTTTCCTTACAGAGCTAGA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	58	58			NA	NA	4		NA											NA				71472130		2203	4300	6503	SO:0001583	missense			AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522	258	258			452	protein-coding gene	gene with protein product		601259	ameloblastin, enamel matrix protein		NA	9126491	Standard	NM_016519	NM_016519	NA	Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.1027A>G	4.37:g.71472130A>G	ENSP00000313809:p.Thr343Ala	NA	Q3B862|Q9H2X1|Q9H4L1	37	CCDS3543.1	.	.	.	.	.	.	.	.	.	.	A	5.295	0.239752	0.10023	.	.	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	T;T	0.29917	1.55;1.55	5.7	-8.38	0.00973	.	0.853066	0.10180	N	0.705992	T	0.13286	0.0322	N	0.22421	0.69	0.09310	N	1	B	0.19935	0.04	B	0.24541	0.054	T	0.26121	-1.0112	10	0.56958	D	0.05	1.0762	0.207	0.00152	0.3172:0.1473:0.2035:0.332	.	343	Q9NP70	AMBN_HUMAN	A	343;342;328	ENSP00000313809:T343A;ENSP00000391234:T328A	ENSP00000313809:T343A	T	+	1	0	AMBN	71506719	0.008000	0.16893	0.000000	0.03702	0.001000	0.01503	-1.646000	0.01998	-2.229000	0.00720	-1.560000	0.00886	ACA	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252165.1		+	ENST00000322937.6	Missense_Mutation	SNP	4 : 71472130 - 71472130 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	242	46
RAD54B	25788	broad.mit.edu	37	8	95390544	95390544	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95390544G>A	ENST00000336148.5	-	14	2503	c.2379C>T	c.(2377-2379)gtC>gtT	p.V793V		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TGGTGAGGTCGACAACTGCCC	0.353		NA						Direct reversal of damage;Homologous recombination						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	84	87			NA	NA	8		NA											NA				95390544		2203	4300	6503	SO:0001819	synonymous_variant			AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275	25788	25788			17228	protein-coding gene	gene with protein product		604289			NA	10362364, 10851248	Standard	NM_012415	NM_012415	NA	Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.2379C>T	8.37:g.95390544G>A		NA	Q8N4S5	37	CCDS6262.1																																																																																			RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257806.3		-	ENST00000336148.5	Silent	SNP	8 : 95390544 - 95390544 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	190	33
NME1	4830	broad.mit.edu	37	17	49239138	49239138	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:49239138G>A	ENST00000336097.3	+	6	702	c.466G>A	c.(466-468)Ggc>Agc	p.G156S	NME2_ENST00000393193.2_Intron|NME2_ENST00000376392.6_Intron|NME1_ENST00000393196.3_Missense_Mutation_p.G131S|NME2_ENST00000555572.1_Intron|NME1_ENST00000013034.3_Missense_Mutation_p.G156S|NME1_ENST00000511355.1_3'UTR|NME1-NME2_ENST00000608447.1_Intron|NME1-NME2_ENST00000393198.3_Intron	NM_198175.1	NP_937818.1			NME/NM23 nucleoside diphosphate kinase 1	NA										endometrium(1)|large_intestine(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			GAAGGAGATCGGCTTGTGGTT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(176;1298 2890 6639 30062)							NA				0													127	115	119			NA	NA	17		NA											NA				49239138		2203	4300	6503	SO:0001583	missense			AL360191, X17620	CCDS11578.1, CCDS11579.1	17q21.33	2013-04-29	2012-05-18		ENSG00000239672	ENSG00000239672	4830	4830			7849	protein-coding gene	gene with protein product		156490	non-metastatic cells 1, protein (NM23A) expressed in		NA	8270257, 19852809	Standard	NM_000269	NM_000269	NA	Approved	NM23, NM23-H1, NDPKA		P15531	OTTHUMG00000137474	ENST00000336097.3:c.466G>A	17.37:g.49239138G>A	ENSP00000337060:p.Gly156Ser	NA		37	CCDS11578.1	.	.	.	.	.	.	.	.	.	.	G	7.452	0.642871	0.14451	.	.	ENSG00000239672	ENST00000393196;ENST00000336097;ENST00000013034	T;T;T	0.75938	-0.98;-0.98;-0.98	5.81	1.19	0.21007	.	.	.	.	.	T	0.47173	0.1431	N	0.03209	-0.39	0.21105	N	0.999788	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.29822	-0.9999	9	0.27785	T	0.31	-2.5617	6.3414	0.21324	0.3619:0.1399:0.4982:0.0	.	131;156	P15531;P15531-2	NDKA_HUMAN;.	S	131;156;156	ENSP00000376892:G131S;ENSP00000337060:G156S;ENSP00000013034:G156S	ENSP00000013034:G156S	G	+	1	0	NME1	46594137	0.966000	0.33281	0.477000	0.27303	0.325000	0.28411	0.859000	0.27858	0.017000	0.15025	-0.980000	0.02579	GGC	NME1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268663.2		+	ENST00000336097.3	Missense_Mutation	SNP	17 : 49239138 - 49239138 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	71
SECISBP2	79048	broad.mit.edu	37	9	91964707	91964707	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:91964707C>T	ENST00000375807.3	+	13	1826	c.1755C>T	c.(1753-1755)gaC>gaT	p.D585D	SECISBP2_ENST00000339901.4_Silent_p.D512D|SECISBP2_ENST00000534113.2_Silent_p.D517D	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	585					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AGGGGATGGACGAACTGATCT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	114	121			NA	NA	9		NA											NA				91964707		2203	4300	6503	SO:0001819	synonymous_variant			AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742	79048	79048			30972	protein-coding gene	gene with protein product		607693			NA	11230166	Standard	NM_024077	XM_005252193	NA	Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.1755C>T	9.37:g.91964707C>T		NA	Q5HYY1|Q8IYC0|Q9H0A1	37	CCDS6683.1																																																																																			SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052990.3		+	ENST00000375807.3	Silent	SNP	9 : 91964707 - 91964707 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	444	59
RNF149	284996	broad.mit.edu	37	2	101905443	101905443	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101905443C>T	ENST00000295317.3	-	4	962	c.855G>A	c.(853-855)ctG>ctA	p.L285L		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	285						integral to membrane	ligase activity|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						ACTTGCATGGCAGAATTCTAA	0.279		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(25;331 612 6521 7355 31028)							NA				0													77	82	80			NA	NA	2		NA											NA				101905443		2202	4298	6500	SO:0001819	synonymous_variant			AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162	284996	284996		RING-type (C3HC4) zinc fingers	23137	protein-coding gene	gene with protein product					NA		Standard	NM_173647	NM_173647	NA	Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.855G>A	2.37:g.101905443C>T		NA	Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	37	CCDS2051.1																																																																																			RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253180.2		-	ENST00000295317.3	Silent	SNP	2 : 101905443 - 101905443 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	230	16
FURIN	5045	broad.mit.edu	37	15	91424593	91424593	+	Missense_Mutation	SNP	G	G	A	rs145582614	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91424593G>A	ENST00000268171.3	+	16	2149	c.1870G>A	c.(1870-1872)Gat>Aat	p.D624N		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	624	Cys-rich.				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CCAAGTCCTCGATACGCACTA	0.662		NA											G	1	5e-04	0.002	NA	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9135	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0								G	ASN/ASP	7,4387	12.9+/-30.5	0,7,2190	72	66	68		1870	1.1	0	15	dbSNP_134	68	0,8596		0,0,4298	yes	missense	FURIN	NM_002569.2	23	0,7,6488	AA,AG,GG	NA	0.0,0.1593,0.0539	benign	624/795	91424593	7,12983	2197	4298	6495	SO:0001583	missense			X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564	5045	5045			8568	protein-coding gene	gene with protein product		136950	paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)	PCSK3, FUR, PACE	NA	2251280, 1741956	Standard	NM_002569	NM_002569	NA	Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.1870G>A	15.37:g.91424593G>A	ENSP00000268171:p.Asp624Asn	NA	Q14336|Q6LBS3|Q9UCZ5	37	CCDS10364.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	0.019	-1.466039	0.01053	0.001593	0.0	ENSG00000140564	ENST00000268171	D	0.87103	-2.21	5.02	1.07	0.20283	Growth factor, receptor (1);	0.663946	0.15833	N	0.242409	T	0.58090	0.2098	N	0.00554	-1.385	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.53669	-0.8406	10	0.10111	T	0.7	-2.6261	8.3769	0.32449	0.7967:0.0:0.2033:0.0	.	624	P09958	FURIN_HUMAN	N	624	ENSP00000268171:D624N	ENSP00000268171:D624N	D	+	1	0	FURIN	89225597	0.212000	0.23540	0.001000	0.08648	0.046000	0.14306	2.576000	0.46033	0.017000	0.15025	0.555000	0.69702	GAT	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313492.1		+	ENST00000268171.3	Missense_Mutation	SNP	15 : 91424593 - 91424593 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	662	139
PIP5KL1	138429	broad.mit.edu	37	9	130687515	130687515	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130687515C>T	ENST00000388747.4	-	9	832	c.788G>A	c.(787-789)cGc>cAc	p.R263H	PIP5KL1_ENST00000490773.1_5'UTR|PIP5KL1_ENST00000300432.3_Missense_Mutation_p.R60H	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	263	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						TTCCATCTGGCGGAGGAACCA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	60	61			NA	NA	9		NA											NA				130687515		2203	4300	6503	SO:0001583	missense			BC042184	CCDS6885.1, CCDS48030.1	9q34.13	2008-02-05			ENSG00000167103	ENSG00000167103	138429	138429			28711	protein-coding gene	gene with protein product		612865			NA	12477932	Standard	NM_173492	NM_001135219	NA	Approved	bA203J24.5, MGC46424	uc011mao.2	Q5T9C9	OTTHUMG00000020719	ENST00000388747.4:c.788G>A	9.37:g.130687515C>T	ENSP00000373399:p.Arg263His	NA	Q8IVS3	37	CCDS48030.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887242	0.52014	.	.	ENSG00000167103	ENST00000388747;ENST00000300432	T;T	0.31769	1.48;1.48	4.95	2.1	0.27182	Phosphatidylinositol-4-phosphate 5-kinase, core (2);	0.190282	0.44688	N	0.000436	T	0.29061	0.0722	M	0.71036	2.16	0.40546	D	0.981077	B	0.18741	0.03	B	0.19946	0.027	T	0.08659	-1.0711	10	0.51188	T	0.08	-13.9532	5.5359	0.17011	0.1441:0.6667:0.0:0.1892	.	263	Q5T9C9	PI5L1_HUMAN	H	263;60	ENSP00000373399:R263H;ENSP00000300432:R60H	ENSP00000300432:R60H	R	-	2	0	PIP5KL1	129727336	0.708000	0.27876	0.998000	0.56505	0.982000	0.71751	0.489000	0.22387	0.224000	0.20940	0.491000	0.48974	CGC	PIP5KL1-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054289.2		-	ENST00000388747.4	Missense_Mutation	SNP	9 : 130687515 - 130687515 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	284	44
SVOP	55530	broad.mit.edu	37	12	109332674	109332674	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109332674C>T	ENST00000299134.5	-	7	629	c.630G>A	c.(628-630)tcG>tcA	p.S210S		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity			breast(2)|lung(4)	6						TTTAAGGTGGCGATTGCCTTT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													281	284	283			NA	NA	12		NA											NA				109332674		2077	4207	6284	SO:0001819	synonymous_variant			BC033587	CCDS73520.1	12q24.11	2011-07-12				ENSG00000166111	55530	55530			25417	protein-coding gene	gene with protein product		611699			NA		Standard	NM_018711	NM_018711	NA	Approved	DKFZp761H039	uc010sxh.1	Q8N4V2		ENST00000299134.5:c.630G>A	12.37:g.109332674C>T		NA	Q9NPW5	37																																																																																				SVOP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic	protein_coding	NA	protein_coding	OTTHUMT00000403982.1		-	ENST00000299134.5	Silent	SNP	12 : 109332674 - 109332674 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	915	170
CHD3	1107	broad.mit.edu	37	17	7806616	7806616	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7806616C>T	ENST00000380358.4	+	23	3700	c.3699C>T	c.(3697-3699)ggC>ggT	p.G1233G	CHD3_ENST00000330494.7_Silent_p.G1174G|CHD3_ENST00000358181.4_Silent_p.G1174G	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1174					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ATCGGATTGGCCAGGCCAACA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	63	63			NA	NA	17		NA											NA				7806616		2203	4300	6503	SO:0001819	synonymous_variant			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004	1107	1107		Zinc fingers, PHD-type	1918	protein-coding gene	gene with protein product		602120			NA	9326634, 7560064	Standard	NM_001005273	NM_001005271	NA	Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000380358.4:c.3699C>T	17.37:g.7806616C>T		NA	D3DTQ9|Q9Y4I0	37	CCDS32553.2																																																																																			CHD3-003	NOVEL	not_organism_supported|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318052.1		+	ENST00000380358.4	Silent	SNP	17 : 7806616 - 7806616 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	489	105
MAGI2	9863	broad.mit.edu	37	7	78130968	78130968	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:78130968G>A	ENST00000354212.4	-	5	1144	c.891C>T	c.(889-891)gaC>gaT	p.D297D	MAGI2_ENST00000536571.1_Silent_p.D129D|MAGI2_ENST00000535697.1_Silent_p.D134D|MAGI2_ENST00000419488.1_Silent_p.D297D|MAGI2_ENST00000522391.1_Silent_p.D297D	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	297						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GTTCCTCATTGTCTTCAGGTT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													343	269	294			NA	NA	7		NA											NA				78130968		2203	4300	6503	SO:0001819	synonymous_variant			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391	9863	9863			18957	protein-coding gene	gene with protein product		606382			NA	10681527, 9734811	Standard	NM_012301	XM_005250725	NA	Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.891C>T	7.37:g.78130968G>A		NA	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	37	CCDS5594.1																																																																																			MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253197.3		-	ENST00000354212.4	Silent	SNP	7 : 78130968 - 78130968 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	599	106
CINP	51550	broad.mit.edu	37	14	102822114	102822114	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102822114C>T	ENST00000216756.6	-	3	337	c.297G>A	c.(295-297)ttG>ttA	p.L99L	CINP_ENST00000536961.2_Silent_p.L114L|CINP_ENST00000541568.2_Silent_p.L99L	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN	cyclin-dependent kinase 2 interacting protein	99					cell cycle|cell division|DNA repair|DNA replication	nucleus	protein binding			large_intestine(2)|lung(2)	4						CCAACCCATCCAAGGTGGCCT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													218	166	184			NA	NA	14		NA											NA				102822114		2203	4300	6503	SO:0001819	synonymous_variant			AK056112, AF228148, AF228149	CCDS9972.1	14q32.33	2010-02-17			ENSG00000100865	ENSG00000100865	51550	51550			23789	protein-coding gene	gene with protein product		613362			NA	16082200	Standard	NM_032630	NM_032630	NA	Approved	MGC849	uc021sea.1	Q9BW66		ENST00000216756.6:c.297G>A	14.37:g.102822114C>T		NA	Q9NPF9	37	CCDS9972.1																																																																																			CINP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415055.1		-	ENST00000216756.6	Silent	SNP	14 : 102822114 - 102822114 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	606	114
ERCC5	2073	broad.mit.edu	37	13	103504492	103504492	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103504492C>T	ENST00000355739.4	+	2	1536	c.113C>T	c.(112-114)gCa>gTa	p.A38V	BIVM-ERCC5_ENST00000602836.1_Silent_p.S463S|ERCC5_ENST00000535557.1_Missense_Mutation_p.A38V	NM_000123.3	NP_000114			excision repair cross-complementation group 5	NA										breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTAAACCAAGCACTTAAAGGA	0.378		NA	Mis, N, F			skin basal cell, skin squamous cell, melanoma		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))		E	0													117	120	119			NA	NA	13		NA											NA				103504492		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899	2073	2073			3437	protein-coding gene	gene with protein product	Cockayne syndrome	133530	xeroderma pigmentosum, complementation group G, excision repair cross-complementing rodent repair deficiency, complementation group 5	ERCM2, XPGC	NA	8088806	Standard		NM_000123	NA	Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.113C>T	13.37:g.103504492C>T	ENSP00000347978:p.Ala38Val	NA		37	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.456982	0.43634	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000535557	T;T	0.64618	-0.11;-0.11	5.39	5.39	0.77823	XPG N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.73273	0.3566	L	0.39147	1.195	0.80722	D	1	D;D;D	0.76494	0.973;0.999;0.999	D;D;D	0.85130	0.928;0.95;0.997	T	0.71388	-0.4608	10	0.38643	T	0.18	-22.3169	19.1376	0.93435	0.0:1.0:0.0:0.0	.	38;38;463	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	V	463;38;38	ENSP00000347978:A38V;ENSP00000442117:A38V	ENSP00000347978:A38V	A	+	2	0	ERCC5	102302493	1.000000	0.71417	0.855000	0.33649	0.934000	0.57294	7.426000	0.80270	2.514000	0.84764	0.579000	0.79373	GCA	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045708.1		+	ENST00000355739.4	Missense_Mutation	SNP	13 : 103504492 - 103504492 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	47
TMPRSS15	5651	broad.mit.edu	37	21	19755999	19755999	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:19755999A>G	ENST00000284885.3	-	4	474	c.441T>C	c.(439-441)aaT>aaC	p.N147N		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	147	SEA.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GGCTGGATTTATTTGCTTCAA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	116	122			NA	NA	21		NA											NA				19755999		2203	4300	6503	SO:0001819	synonymous_variant				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646	5651	5651		Serine peptidases / Transmembrane	9490	protein-coding gene	gene with protein product	proenterokinase, enteropeptidase	606635	protease, serine, 7 (enterokinase)	PRSS7	NA	8052624	Standard	NM_002772	NM_002772	NA	Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.441T>C	21.37:g.19755999A>G		NA	Q2NKL7	37	CCDS13571.1																																																																																			TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000158231.2		-	ENST00000284885.3	Silent	SNP	21 : 19755999 - 19755999 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	264	15
TNIK	23043	broad.mit.edu	37	3	170858289	170858289	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170858289G>A	ENST00000436636.2	-	13	1575	c.1231C>T	c.(1231-1233)Cga>Tga	p.R411*	TNIK_ENST00000538048.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000341852.6_Nonsense_Mutation_p.R411*|TNIK_ENST00000475336.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000369326.5_Nonsense_Mutation_p.R411*|TNIK_ENST00000470834.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000460047.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000357327.5_Nonsense_Mutation_p.R411*|TNIK_ENST00000284483.8_Nonsense_Mutation_p.R411*|TNIK_ENST00000488470.1_Nonsense_Mutation_p.R411*	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	411	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCCTTCTCTCGCCTTTGTTGC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	75	74			NA	NA	3		NA											NA				170858289		2005	4163	6168	SO:0001587	stop_gained			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310	23043	23043			30765	protein-coding gene	gene with protein product		610005			NA	9628581, 10521462	Standard	XM_039796	NR_027767	NA	Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1231C>T	3.37:g.170858289G>A	ENSP00000399511:p.Arg411*	NA	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	37	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142123	0.77775	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	.	.	.	5.55	1.01	0.19927	.	0.062787	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2317	0.43258	0.0:0.0959:0.3853:0.5188	.	.	.	.	X	411	.	ENSP00000284483:R411X	R	-	1	2	TNIK	172340983	0.996000	0.38824	0.942000	0.38095	0.233000	0.25261	1.042000	0.30303	0.243000	0.21327	-0.182000	0.12963	CGA	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352973.2		-	ENST00000436636.2	Nonsense_Mutation	SNP	3 : 170858289 - 170858289 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	702	60
RBP3	5949	broad.mit.edu	37	10	48389870	48389870	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:48389870G>T	ENST00000224600.4	-	1	1121	c.1008C>A	c.(1006-1008)gtC>gtA	p.V336V		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	336	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGTCCTTCAGGACCTCCTGGA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	38	38			NA	NA	10		NA											NA				48389870		2203	4300	6503	SO:0001819	synonymous_variant			M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203	5949	5949			9921	protein-coding gene	gene with protein product		180290	retinol-binding protein 3, interstitial		NA		Standard	NM_002900	NM_002900	NA	Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1008C>A	10.37:g.48389870G>T		NA	Q5VSR0	37	CCDS7218.1																																																																																			RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047888.1		-	ENST00000224600.4	Silent	SNP	10 : 48389870 - 48389870 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	278	14
FOLH1	2346	broad.mit.edu	37	11	49175791	49175791	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:49175791C>A	ENST00000340334.7	-	17	2200	c.1832G>T	c.(1831-1833)aGt>aTt	p.S611I	FOLH1_ENST00000533034.1_Missense_Mutation_p.S611I|FOLH1_ENST00000256999.2_Missense_Mutation_p.S626I|FOLH1_ENST00000343844.4_Missense_Mutation_p.S318I|FOLH1_ENST00000356696.3_Missense_Mutation_p.S626I	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	626					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	AAATGATACACTGTATGTCTT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	130	135			NA	NA	11		NA											NA				49175791		2201	4298	6499	SO:0001583	missense			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	2346	2346	3.4.17.21		3788	protein-coding gene	gene with protein product	glutamate carboxylase II, glutamate carboxypeptidase II	600934		FOLH	NA	9838072	Standard	NM_004476	NM_001193472	NA	Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000340334.7:c.1832G>T	11.37:g.49175791C>A	ENSP00000344131:p.Ser611Ile	NA	A4UU12|A9CB79|B7Z343|D3DQS5|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	37	CCDS53628.1	.	.	.	.	.	.	.	.	.	.	C	8.501	0.864361	0.17250	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	3.62	-5.07	0.02938	Transferrin receptor-like, dimerisation domain (2);	0.959845	0.08638	N	0.916012	T	0.23492	0.0568	L	0.57536	1.79	0.09310	N	1	B;B;B;B;P	0.42078	0.074;0.092;0.004;0.059;0.77	B;B;B;B;B	0.37239	0.034;0.037;0.023;0.074;0.244	T	0.17107	-1.0380	10	0.62326	D	0.03	.	6.1645	0.20382	0.1324:0.3207:0.0:0.5469	.	611;611;626;626;41	Q04609-9;Q04609-7;Q04609-8;Q04609;Q04609-3	.;.;.;FOLH1_HUMAN;.	I	626;626;611;318;611	ENSP00000256999:S626I;ENSP00000349129:S626I;ENSP00000344131:S611I;ENSP00000344086:S318I;ENSP00000431463:S611I	ENSP00000256999:S626I	S	-	2	0	FOLH1	49132367	0.000000	0.05858	0.000000	0.03702	0.854000	0.48673	-1.647000	0.01997	-1.037000	0.03283	0.404000	0.27445	AGT	FOLH1-003	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390899.1		-	ENST00000340334.7	Missense_Mutation	SNP	11 : 49175791 - 49175791 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	415	83
CACNA1B	774	broad.mit.edu	37	9	141015943	141015943	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:141015943G>T	ENST00000371372.1	+	47	6657	c.6512G>T	c.(6511-6513)aGc>aTc	p.S2171I	CACNA1B_ENST00000371355.4_Missense_Mutation_p.S2172I|CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000371357.1_Missense_Mutation_p.S2170I|CACNA1B_ENST00000277549.5_Missense_Mutation_p.S1365I|CACNA1B_ENST00000371363.1_Missense_Mutation_p.S2169I	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2171					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GTGAATGGGAGCCCCTTGCTG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	43	41			NA	NA	9		NA											NA				141015943		1921	4114	6035	SO:0001583	missense			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408	774	774		Calcium channel subunits, Voltage-gated ion channels / Calcium channels, EF-hand domain containing	1389	protein-coding gene	gene with protein product		601012		CACNL1A5	NA	8825650, 16382099	Standard	NM_000718	NM_000718	NA	Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.6512G>T	9.37:g.141015943G>T	ENSP00000360423:p.Ser2171Ile	NA	B1AQK5	37	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936637	0.73442	.	.	ENSG00000148408	ENST00000371372;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.98567	-4.71;-5.0;-4.72;-4.71;-4.69	5.0	5.0	0.66597	.	0.124902	0.52532	D	0.000068	D	0.98482	0.9494	M	0.79258	2.445	0.80722	D	1	D;D	0.58970	0.984;0.984	P;P	0.54629	0.757;0.757	D	0.99640	1.0988	10	0.72032	D	0.01	.	18.2798	0.90096	0.0:0.0:1.0:0.0	.	2170;2169	B1AQK7;B1AQK6	.;.	I	2171;1365;2169;2170;2172	ENSP00000360423:S2171I;ENSP00000277549:S1365I;ENSP00000360414:S2169I;ENSP00000360408:S2170I;ENSP00000360406:S2172I	ENSP00000277549:S1365I	S	+	2	0	CACNA1B	140135764	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	8.927000	0.92846	2.319000	0.78375	0.561000	0.74099	AGC	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055380.1		+	ENST00000371372.1	Missense_Mutation	SNP	9 : 141015943 - 141015943 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	333	67
TRAF3IP1	26146	broad.mit.edu	37	2	239234548	239234548	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239234548G>A	ENST00000373327.4	+	3	513	c.291G>A	c.(289-291)gcG>gcA	p.A97A	TRAF3IP1_ENST00000391994.2_Silent_p.A97A|TRAF3IP1_ENST00000391993.3_Silent_p.A97A	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	97	Abolishes microtubules-binding when missing.					cytoplasm|cytoskeleton	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		GAATCGTGGCGGGGCATGAGC	0.468		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	79	72	74		291,291	-8.7	0.3	2		74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TRAF3IP1	NM_001139490.1,NM_015650.3	,	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	,	97/626,97/692	239234548	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104	26146	26146		Intraflagellar transport homologs	17861	protein-coding gene	gene with protein product	microtubule interacting protein that associates with TRAF3	607380			NA	10791955, 12935900	Standard	NM_015650	NM_015650	NA	Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.291G>A	2.37:g.239234548G>A		NA	Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	37	CCDS33415.1																																																																																			TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328312.1		+	ENST00000373327.4	Silent	SNP	2 : 239234548 - 239234548 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	311	81
IGDCC4	57722	broad.mit.edu	37	15	65682504	65682504	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65682504G>T	ENST00000352385.2	-	13	2606	c.2397C>A	c.(2395-2397)acC>acA	p.T799T		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	799	Fibronectin type-III 4.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TGGTGTAATAGGTGACCAGGG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	71	72			NA	NA	15		NA											NA				65682504		2201	4299	6500	SO:0001819	synonymous_variant				CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742	57722	57722		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	13770	protein-coding gene	gene with protein product	likely ortholog of mouse neighbor of Punc E11				NA		Standard	NM_020962	NM_020962	NA	Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.2397C>A	15.37:g.65682504G>T		NA	Q9HCE4	37	CCDS10206.1																																																																																			IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256825.2		-	ENST00000352385.2	Silent	SNP	15 : 65682504 - 65682504 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	373	53
KCNA1	3736	broad.mit.edu	37	12	5021052	5021052	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:5021052G>A	ENST00000382545.3	+	2	1615	c.508G>A	c.(508-510)Gcc>Acc	p.A170T	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	170					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	p.A170T(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CAGGGTCATCGCCATCGTCTC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											81	81	81			NA	NA	12		NA											NA				5021052		2203	4300	6503	SO:0001583	missense			L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262	3736	3736		Potassium channels, Voltage-gated ion channels / Potassium channels	6218	protein-coding gene	gene with protein product		176260		AEMK	NA	1349297, 8821794, 16382104	Standard	NM_000217	NM_000217	NA	Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.508G>A	12.37:g.5021052G>A	ENSP00000371985:p.Ala170Thr	NA	A6NM83|Q3MIQ9	37	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760027	0.89932	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	T	0.70869	-0.52	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.83078	0.5176	M	0.86864	2.845	0.80722	D	1	D	0.65815	0.995	P	0.55455	0.776	D	0.86857	0.2027	10	0.87932	D	0	.	17.1898	0.86876	0.0:0.0:1.0:0.0	.	170	Q09470	KCNA1_HUMAN	T	170	ENSP00000371985:A170T	ENSP00000228858:A170T	A	+	1	0	KCNA1	4891313	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.531000	0.98054	2.606000	0.88127	0.655000	0.94253	GCC	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000103343.2		+	ENST00000382545.3	Missense_Mutation	SNP	12 : 5021052 - 5021052 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	688	78
CLEC12A	160364	broad.mit.edu	37	12	10134657	10134657	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10134657G>A	ENST00000304361.4	+	5	752	c.570G>A	c.(568-570)tgG>tgA	p.W190*	CLEC12A_ENST00000434319.2_Nonsense_Mutation_p.W190*|CLEC12A_ENST00000350667.4_Nonsense_Mutation_p.W157*|CLEC12A_ENST00000355690.4_Nonsense_Mutation_p.W200*	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	190	C-type lectin.					integral to membrane|plasma membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						ATGACTATTGGCTGGGATTAT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(197;1487 2125 16611 22221 34855)							NA				0													63	63	63			NA	NA	12		NA											NA				10134657		2203	4300	6503	SO:0001587	stop_gained			AY498550	CCDS8608.1, CCDS8609.1, CCDS55803.1, CCDS73442.1	12p13.31	2010-08-17			ENSG00000172322	ENSG00000172322	160364	160364		C-type lectin domain containing	31713	protein-coding gene	gene with protein product		612088			NA		Standard	NM_138337	NM_201623	NA	Approved	CLL-1, MICL	uc001qwq.3	Q5QGZ9		ENST00000304361.4:c.570G>A	12.37:g.10134657G>A	ENSP00000302804:p.Trp190*	NA	B2RA16|Q6P4H1|Q6RH77|Q6RH78|Q8TDQ6	37	CCDS8608.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.802655	0.31869	.	.	ENSG00000172322	ENST00000355690;ENST00000304361;ENST00000434319;ENST00000350667	.	.	.	4.31	3.42	0.39159	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.2605	0.31781	0.1068:0.0:0.8932:0.0	.	.	.	.	X	200;190;190;157	.	ENSP00000302804:W190X	W	+	3	0	CLEC12A	10025924	0.998000	0.40836	0.997000	0.53966	0.047000	0.14425	3.433000	0.52834	1.416000	0.47057	-0.136000	0.14681	TGG	CLEC12A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399545.1		+	ENST00000304361.4	Nonsense_Mutation	SNP	12 : 10134657 - 10134657 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	173	31
SPG20	23111	broad.mit.edu	37	13	36905734	36905734	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36905734C>A	ENST00000451493.1	-	3	1028		c.e3-1		SPG20_ENST00000438666.2_Splice_Site|SPG20_ENST00000355182.4_Splice_Site|SPG20_ENST00000495510.1_Splice_Site|SPG20_ENST00000494062.2_Splice_Site	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	NA					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		AGTCACAAACCTGAAAGGATT	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	45	45			NA	NA	13		NA											NA				36905734		2203	4300	6503	SO:0001630	splice_region_variant			AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104	23111	23111			18514	protein-coding gene	gene with protein product	spartin	607111			NA	6022528, 12134148	Standard		NM_001142294	NA	Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.811-1G>T	13.37:g.36905734C>A		NA	O60349|Q86Y67|Q9H1T2|Q9H1T3	37	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073779	0.55646	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	.	.	.	5.69	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5079	0.67764	0.0:0.9299:0.0:0.0701	.	.	.	.	.	-1	.	.	.	-	.	.	SPG20	35803734	1.000000	0.71417	0.977000	0.42913	0.703000	0.40648	7.084000	0.76866	1.421000	0.47157	0.561000	0.74099	.	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044494.2	Intron	-	ENST00000451493.1	Splice_Site	SNP	13 : 36905734 - 36905734 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	53
CD1B	910	broad.mit.edu	37	1	158299257	158299257	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158299257G>A	ENST00000368168.3	-	4	896	c.789C>T	c.(787-789)ctC>ctT	p.L263L		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	263	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					GGGTTGCTCGGAGATACCATG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	113	117			NA	NA	1		NA											NA				158299257		2203	4300	6503	SO:0001819	synonymous_variant			M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485	910	910		CD molecules, Immunoglobulin superfamily / C1-set domain containing	1635	protein-coding gene	gene with protein product		188360	CD1B antigen, b polypeptide, CD1b antigen	CD1	NA	2447586	Standard	NM_001764	NM_001764	NA	Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.789C>T	1.37:g.158299257G>A		NA	Q5TDK9|Q5TDL0|Q9UMM2	37	CCDS1176.1																																																																																			CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046350.2		-	ENST00000368168.3	Silent	SNP	1 : 158299257 - 158299257 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	751	124
BHLHE40	8553	broad.mit.edu	37	3	5025367	5025367	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:5025367C>T	ENST00000256495.3	+	5	1832	c.1229C>T	c.(1228-1230)aCc>aTc	p.T410I		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	410						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						AACTTAGAAACCAAAGACTAA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	90	87			NA	NA	3		NA											NA				5025367		2203	4300	6503	SO:0001583	missense			AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107	8553	8553		Basic helix-loop-helix proteins	1046	protein-coding gene	gene with protein product	differentially expressed in chondrocytes 1,  differentiated embryo chondrocyte expressed gene 1	604256	basic helix-loop-helix domain containing, class B, 2	STRA13, BHLHB2	NA	9240428, 10449910, 18557763	Standard	NM_003670	NM_003670	NA	Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.1229C>T	3.37:g.5025367C>T	ENSP00000256495:p.Thr410Ile	NA	Q96TD3	37	CCDS2565.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.800971	0.90538	.	.	ENSG00000134107	ENST00000256495	T	0.49432	0.78	5.51	5.51	0.81932	.	0.097328	0.64402	D	0.000001	T	0.57286	0.2043	M	0.63843	1.955	0.80722	D	1	P	0.52061	0.95	P	0.48840	0.592	T	0.61926	-0.6962	10	0.72032	D	0.01	.	19.0124	0.92879	0.0:1.0:0.0:0.0	.	410	O14503	BHE40_HUMAN	I	410	ENSP00000256495:T410I	ENSP00000256495:T410I	T	+	2	0	BHLHE40	5000367	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.286000	0.78671	2.589000	0.87451	0.655000	0.94253	ACC	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239244.2		+	ENST00000256495.3	Missense_Mutation	SNP	3 : 5025367 - 5025367 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	707	126
GPR108	56927	broad.mit.edu	37	19	6733205	6733205	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6733205G>T	ENST00000264080.7	-	9	857	c.831C>A	c.(829-831)ttC>ttA	p.F277L	GPR108_ENST00000430424.4_Missense_Mutation_p.F35L	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	277						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TGGACACCCAGAAGATGCCAG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	69	65			NA	NA	19		NA											NA				6733205		2132	4231	6363	SO:0001583	missense				CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734	56927	56927		GPCR / Unclassified : 7TM orphan receptors	17829	protein-coding gene	gene with protein product					NA		Standard		NM_001080452	NA	Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.831C>A	19.37:g.6733205G>T	ENSP00000264080:p.Phe277Leu	NA	B9EJD7	37	CCDS42479.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795685	0.31777	.	.	ENSG00000125734	ENST00000264080;ENST00000430424;ENST00000552585	T	0.19105	2.17	3.88	0.287	0.15714	.	0.226362	0.28036	U	0.016848	T	0.08846	0.0219	N	0.16368	0.405	0.80722	D	1	B	0.11235	0.004	B	0.13407	0.009	T	0.21042	-1.0257	10	0.19147	T	0.46	-12.1953	2.8266	0.05487	0.3384:0.0:0.4603:0.2013	.	277	Q9NPR9	GP108_HUMAN	L	277;35;35	ENSP00000264080:F277L	ENSP00000264080:F277L	F	-	3	2	GPR108	6684205	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	0.852000	0.27764	0.419000	0.25927	0.561000	0.74099	TTC	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407508.2		-	ENST00000264080.7	Missense_Mutation	SNP	19 : 6733205 - 6733205 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	621	110
MACF1	23499	broad.mit.edu	37	1	39826575	39826575	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39826575C>A	ENST00000372915.3	+	47	12457	c.12370C>A	c.(12370-12372)Ctg>Atg	p.L4124M	MACF1_ENST00000289893.4_Missense_Mutation_p.L2559M|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.L2057M|MACF1_ENST00000567887.1_Missense_Mutation_p.L4156M|MACF1_ENST00000564288.1_Missense_Mutation_p.L4119M|MACF1_ENST00000539005.1_Missense_Mutation_p.L2057M|MACF1_ENST00000545844.1_Missense_Mutation_p.L2057M|MACF1_ENST00000317713.7_Missense_Mutation_p.L2057M			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4124					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCTGGAGAGCCTGTTGCAGTC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	71	72			NA	NA	1		NA											NA				39826575		2203	4300	6503	SO:0001583	missense			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603	23499	23499		EF-hand domain containing	13664	protein-coding gene	gene with protein product	actin cross-linking factor, 620 kDa actin binding protein, macrophin 1, trabeculin-alpha, actin cross-linking family protein 7	608271			NA	7635207, 10529403	Standard	NM_033044	NM_012090	NA	Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.12370C>A	1.37:g.39826575C>A	ENSP00000362006:p.Leu4124Met	NA	E9PJT0|O75053|Q5VW20|Q8WXY2|Q9H540|Q9UKP0|Q9ULG9	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.46|10.46	1.356181|1.356181	0.24598|0.24598	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.44881|.	0.91;0.91;0.91;0.91;0.91;0.91|.	5.62|5.62	2.52|2.52	0.30459|0.30459	.|.	0.000000|.	0.46145|.	D|.	0.000302|.	T|T	0.40839|0.40839	0.1133|0.1133	N|N	0.26042|0.26042	0.785|0.785	0.80722|0.80722	D|D	1|1	D;P;D;P|.	0.76494|.	0.998;0.542;0.999;0.678|.	D;B;D;P|.	0.85130|.	0.99;0.396;0.997;0.674|.	T|T	0.09530|0.09530	-1.0670|-1.0670	10|5	0.27785|.	T|.	0.31|.	.|.	7.468|7.468	0.27332|0.27332	0.0:0.5743:0.0:0.4257|0.0:0.5743:0.0:0.4257	.|.	4124;2057;2057;2022|.	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	MACF1_HUMAN;.;.;.|.	M|H	2057;4124;2057;2057;2057;2559|1190	ENSP00000439537:L2057M;ENSP00000362006:L4124M;ENSP00000354573:L2057M;ENSP00000313438:L2057M;ENSP00000444364:L2057M;ENSP00000289893:L2559M|.	ENSP00000289893:L2559M|.	L|P	+|+	1|2	2|0	MACF1|MACF1	39599162|39599162	0.015000|0.015000	0.18098|0.18098	0.987000|0.987000	0.45799|0.45799	0.246000|0.246000	0.25737|0.25737	0.167000|0.167000	0.16602|0.16602	0.603000|0.603000	0.29913|0.29913	0.563000|0.563000	0.77884|0.77884	CTG|CCT	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000392096.1		+	ENST00000372915.3	Missense_Mutation	SNP	1 : 39826575 - 39826575 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	250	27
HSF1	3297	broad.mit.edu	37	8	145533580	145533580	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145533580G>A	ENST00000400780.4	+	3	370	c.291G>A	c.(289-291)aaG>aaA	p.K97K	HSF1_ENST00000528838.1_Silent_p.K162K			Q00613	HSF1_HUMAN	heat shock transcription factor 1	162						cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			TGGCCATGAAGCAGTAGGTCC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	63	62			NA	NA	8		NA											NA				145533580		2203	4296	6499	SO:0001819	synonymous_variant			M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122	3297	3297			5224	protein-coding gene	gene with protein product		140580			NA	1871105	Standard	NM_005526	NM_005526	NA	Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000400780.4:c.291G>A	8.37:g.145533580G>A		NA	A8K4L0|A8MW26|Q53XT4	37																																																																																				HSF1-006	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000382056.1		+	ENST00000400780.4	Silent	SNP	8 : 145533580 - 145533580 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	232	36
DTX4	23220	broad.mit.edu	37	11	58949753	58949753	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58949753G>A	ENST00000227451.3	+	2	857	c.753G>A	c.(751-753)aaG>aaA	p.K251K	DTX4_ENST00000532982.1_Silent_p.K145K	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	251					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GCCCACTGAAGACCGCCCCAT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	46	42			NA	NA	11		NA											NA				58949753		2115	4241	6356	SO:0001819	synonymous_variant			AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042	23220	23220		RING-type (C3HC4) zinc fingers	29151	protein-coding gene	gene with protein product			deltex 4 homolog (Drosophila), deltex homolog 4 (Drosophila)		NA	10231032, 22388039	Standard	XM_166213	NM_015177	NA	Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.753G>A	11.37:g.58949753G>A		NA	Q0VF38	37	CCDS44612.1																																																																																			DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394228.1		+	ENST00000227451.3	Silent	SNP	11 : 58949753 - 58949753 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	106	31
EPG5	57724	broad.mit.edu	37	18	43535278	43535278	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43535278C>A	ENST00000282041.5	-	2	124	c.90G>T	c.(88-90)caG>caT	p.Q30H		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	30					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ACTCTTCCCTCTGAGGAGTTT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	54	56			NA	NA	18		NA											NA				43535278		1822	4086	5908	SO:0001583	missense			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223	57724	57724			29331	protein-coding gene	gene with protein product		615068	KIAA1632	KIAA1632	NA	10997877, 20550938	Standard	NM_020964	XM_005258323	NA	Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.90G>T	18.37:g.43535278C>A	ENSP00000282041:p.Gln30His	NA	A2BDF3|Q9H8C8	37	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	9.770	1.172568	0.21704	.	.	ENSG00000152223	ENST00000282041	T	0.11930	2.73	5.38	3.61	0.41365	.	1.442800	0.03916	N	0.282665	T	0.11623	0.0283	N	0.08118	0	0.09310	N	1	P;B	0.36315	0.547;0.32	B;B	0.40228	0.323;0.244	T	0.42050	-0.9474	10	0.66056	D	0.02	-0.4744	10.1199	0.42614	0.0:0.8473:0.0:0.1527	.	30;30	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	H	30	ENSP00000282041:Q30H	ENSP00000282041:Q30H	Q	-	3	2	EPG5	41789276	0.701000	0.27806	0.152000	0.22495	0.337000	0.28794	1.165000	0.31822	0.841000	0.35020	0.563000	0.77884	CAG	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445081.1		-	ENST00000282041.5	Missense_Mutation	SNP	18 : 43535278 - 43535278 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	245	13
USP43	124739	broad.mit.edu	37	17	9631500	9631500	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9631500C>T	ENST00000285199.7	+	15	2661	c.2565C>T	c.(2563-2565)ggC>ggT	p.G855G	USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Silent_p.G850G	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	NA					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						TGTTGACGGGCACTGCGGGTG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	49	48			NA	NA	17		NA											NA				9631500		2112	4223	6335	SO:0001819	synonymous_variant			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914	124739	124739		Ubiquitin-specific peptidases	20072	protein-coding gene	gene with protein product			ubiquitin specific protease 43		NA	12838346	Standard	NM_153210	NM_153210	NA	Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.2565C>T	17.37:g.9631500C>T		NA	A6NDT9|B7ZLT9|Q8N2C5|Q96DQ6	37	CCDS45610.1																																																																																			USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000439855.3		+	ENST00000285199.7	Silent	SNP	17 : 9631500 - 9631500 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	194	45
MED17	9440	broad.mit.edu	37	11	93526947	93526947	+	Missense_Mutation	SNP	G	G	A	rs140935979		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93526947G>A	ENST00000251871.3	+	4	978	c.691G>A	c.(691-693)Gat>Aat	p.D231N		NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	231					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TACAGATCTCGATCTGGATAA	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ASN/ASP	1,4401	2.1+/-5.4	0,1,2200	71	73	73		691	5.5	1	11	dbSNP_134	73	0,8592		0,0,4296	no	missense	MED17	NM_004268.4	23	0,1,6496	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging	231/652	93526947	1,12993	2201	4296	6497	SO:0001583	missense			AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429	9440	9440			2375	protein-coding gene	gene with protein product		603810	cofactor required for Sp1 transcriptional activation, subunit 6 (77kD), cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa	CRSP6	NA	9989412, 10198638	Standard	NM_004268	NM_004268	NA	Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.691G>A	11.37:g.93526947G>A	ENSP00000251871:p.Asp231Asn	NA	B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	37	CCDS8295.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652685	0.88056	2.27E-4	0.0	ENSG00000042429	ENST00000251871;ENST00000427225;ENST00000528786	T;T	0.54675	0.56;0.56	5.47	5.47	0.80525	.	0.044267	0.85682	D	0.000000	T	0.70046	0.3179	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.65092	-0.6252	10	0.28530	T	0.3	-24.2179	19.3299	0.94281	0.0:0.0:1.0:0.0	.	231	Q9NVC6	MED17_HUMAN	N	231;201;123	ENSP00000251871:D231N;ENSP00000433626:D123N	ENSP00000251871:D231N	D	+	1	0	MED17	93166595	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.814000	0.86154	2.591000	0.87537	0.655000	0.94253	GAT	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394800.2		+	ENST00000251871.3	Missense_Mutation	SNP	11 : 93526947 - 93526947 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	229	44
PALD1	27143	broad.mit.edu	37	10	72299451	72299451	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:72299451G>A	ENST00000263563.6	+	15	2109	c.1841G>A	c.(1840-1842)cGc>cAc	p.R614H		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1	NA											NA						AGCCAGCACCGCAGGGCCTGT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	72	73			NA	NA	10		NA											NA				72299451		2203	4300	6503	SO:0001583	missense			AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719	27143	27143			23530	protein-coding gene	gene with protein product		614656	paladin, KIAA1274	PALD, KIAA1274	NA		Standard	NM_014431	NM_014431	NA	Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.1841G>A	10.37:g.72299451G>A	ENSP00000263563:p.Arg614His	NA		37	CCDS31215.1	.	.	.	.	.	.	.	.	.	.	g	10.19	1.282991	0.23392	.	.	ENSG00000107719	ENST00000263563;ENST00000373214	T	0.29917	1.55	4.59	1.63	0.23807	.	0.640598	0.14970	N	0.287846	T	0.20495	0.0493	L	0.39397	1.21	0.09310	N	1	B	0.16166	0.016	B	0.12156	0.007	T	0.27872	-1.0061	10	0.15499	T	0.54	-1.0189	7.2409	0.26096	0.4336:0.0:0.5664:0.0	.	614	Q9ULE6	PALD_HUMAN	H	614	ENSP00000263563:R614H	ENSP00000263563:R614H	R	+	2	0	KIAA1274	71969457	0.055000	0.20627	0.122000	0.21767	0.681000	0.39784	0.530000	0.23036	0.364000	0.24374	0.444000	0.29173	CGC	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048515.2		+	ENST00000263563.6	Missense_Mutation	SNP	10 : 72299451 - 72299451 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	492	76
RTEL1	51750	broad.mit.edu	37	20	62321794	62321794	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62321794G>A	ENST00000370018.3	+	26	3240	c.2413G>A	c.(2413-2415)Ggg>Agg	p.G805R	RTEL1_ENST00000508582.2_Splice_Site_p.G829R|RTEL1-TNFRSF6B_ENST00000482936.1_Splice_Site_p.G805R|RTEL1_ENST00000360203.5_Splice_Site_p.G805R|RTEL1_ENST00000318100.4_Splice_Site_p.G805R|RTEL1_ENST00000370003.1_Splice_Site_p.G50R	NM_016434.3|NM_032957.4	NP_057518.1|NP_116575.3	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	805					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GAGGTCCTCAGGTGCGGACGG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	31	31			NA	NA	20		NA											NA				62321794		2192	4279	6471	SO:0001630	splice_region_variant			AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366	51750	51750			15888	protein-coding gene	gene with protein product		608833	chromosome 20 open reading frame 41	C20orf41	NA	10655513, 15210109	Standard	NM_032957	NM_016434	NA	Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000370018.3:c.2413+1G>A	20.37:g.62321794G>A		NA	A2A397|A2A398|B4DRM5|B4DYM3|B4E3N6|E1P5J4|E1P5J5|Q5JTV3|Q5JTV4|Q9BW37|Q9H402|Q9H4X6|Q9NX25|Q9NZ73|Q9UPR4|Q9Y4R6	37	CCDS13531.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078151	0.76528	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000425905;ENST00000370003	T;T;T;T;T;T	0.09538	2.97;2.97;2.97;2.97;2.97;2.97	4.16	4.16	0.48862	.	0.712591	0.13416	N	0.389486	T	0.28797	0.0714	M	0.64997	1.995	0.37882	D	0.930427	D;D;P;D	0.89917	0.991;1.0;0.935;0.99	P;D;P;P	0.97110	0.845;1.0;0.67;0.828	T	0.03807	-1.1002	10	0.23302	T	0.38	-20.4953	13.999	0.64421	0.0:0.0:1.0:0.0	.	829;50;805;805	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	R	805;805;829;805;198;50	ENSP00000359035:G805R;ENSP00000322287:G805R;ENSP00000424307:G829R;ENSP00000353332:G805R;ENSP00000388063:G198R;ENSP00000359020:G50R	ENSP00000353332:G805R	G	+	1	0	AL353715.1	61792238	0.999000	0.42202	0.490000	0.27465	0.399000	0.30720	4.479000	0.60236	2.144000	0.66660	0.563000	0.77884	GGG	RTEL1-001	KNOWN	non_canonical_TEC|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080173.1	Missense_Mutation	+	ENST00000370018.3	Splice_Site	SNP	20 : 62321794 - 62321794 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	255	43
CLDN3	1365	broad.mit.edu	37	7	73183818	73183818	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73183818C>T	ENST00000395145.2	-	1	782	c.562G>A	c.(562-564)Gag>Aag	p.E188K		NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN	claudin 3	188					response to hypoxia	integral to plasma membrane|tight junction	structural molecule activity|transmembrane receptor activity			kidney(1)|lung(1)	2		Lung NSC(55;0.159)				TACTTCTTCTCGCGTGGGGGA	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	25	25			NA	NA	7		NA											NA				73183818		2199	4295	6494	SO:0001583	missense			AF007189	CCDS5559.1	7q11	2008-07-18			ENSG00000165215	ENSG00000165215	1365	1365		Claudins	2045	protein-coding gene	gene with protein product	Clostridium perfringens enterotoxin receptor 2, ventral prostate.1-like protein, claudin-3, CPE-receptor 2	602910		C7orf1, CPETR2	NA	9441748, 9892664	Standard	NM_001306	NM_001306	NA	Approved	RVP1, CPE-R2, HRVP1	uc003tzg.4	O15551	OTTHUMG00000023424	ENST00000395145.2:c.562G>A	7.37:g.73183818C>T	ENSP00000378577:p.Glu188Lys	NA		37	CCDS5559.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076025	0.55646	.	.	ENSG00000165215	ENST00000395145	D	0.84660	-1.88	4.6	4.6	0.57074	.	0.481200	0.21587	N	0.072148	T	0.80259	0.4590	L	0.50333	1.59	0.47547	D	0.999459	B	0.12630	0.006	B	0.06405	0.002	T	0.74604	-0.3610	10	0.13470	T	0.59	.	14.9175	0.70810	0.0:1.0:0.0:0.0	.	188	O15551	CLD3_HUMAN	K	188	ENSP00000378577:E188K	ENSP00000378577:E188K	E	-	1	0	CLDN3	72821754	0.050000	0.20438	0.998000	0.56505	0.654000	0.38779	1.689000	0.37700	2.084000	0.62774	0.561000	0.74099	GAG	CLDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252310.1		-	ENST00000395145.2	Missense_Mutation	SNP	7 : 73183818 - 73183818 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	30
EXTL3	2137	broad.mit.edu	37	8	28573951	28573951	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28573951G>T	ENST00000220562.4	+	3	1277	c.375G>T	c.(373-375)aaG>aaT	p.K125N	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	125						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		AGAACGCCAAGCAGGACCTGC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	40	42			NA	NA	8		NA											NA				28573951		2203	4300	6503	SO:0001583	missense			U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2137	2137	2.4.1.223	Exostosin glycosyltransferase family	3518	protein-coding gene	gene with protein product	REG receptor, glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase	605744	exostoses (multiple)-like 3		NA	9479495, 9450183, 11257457	Standard	NM_001440	NM_001440	NA	Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.375G>T	8.37:g.28573951G>T	ENSP00000220562:p.Lys125Asn	NA	D3DST8|O00225|Q53XT3	37	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699654	0.48307	.	.	ENSG00000012232	ENST00000220562	D	0.95482	-3.72	5.05	3.97	0.46021	.	0.000000	0.85682	D	0.000000	D	0.92941	0.7754	L	0.36672	1.1	0.54753	D	0.999988	D	0.54047	0.964	P	0.46940	0.532	D	0.91931	0.5555	9	.	.	.	-27.5715	14.3478	0.66678	0.0844:0.0:0.9156:0.0	.	125	O43909	EXTL3_HUMAN	N	125	ENSP00000220562:K125N	.	K	+	3	2	EXTL3	28629870	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.567000	0.60850	2.352000	0.79861	0.491000	0.48974	AAG	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219987.3		+	ENST00000220562.4	Missense_Mutation	SNP	8 : 28573951 - 28573951 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	200	30
C14orf37	145407	broad.mit.edu	37	14	58605508	58605508	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58605508T>C	ENST00000267485.7	-	2	763	c.569A>G	c.(568-570)cAa>cGa	p.Q190R	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	190						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TGCAAATGATTGATTATCCAT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	95	96			NA	NA	14		NA											NA				58605508		2203	4300	6503	SO:0001583	missense				CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971	145407	145407			19846	protein-coding gene	gene with protein product					NA		Standard	NM_001001872	NM_001001872	NA	Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.569A>G	14.37:g.58605508T>C	ENSP00000267485:p.Gln190Arg	NA	A8K8Z8|Q6P5Q1|Q86TY1	37	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.622137	0.46840	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.34859	1.34	6.17	1.06	0.20224	.	0.540195	0.18131	N	0.150725	T	0.43656	0.1257	M	0.64997	1.995	0.09310	N	1	P;D;P;P	0.59767	0.919;0.986;0.919;0.919	P;P;P;P	0.55391	0.59;0.775;0.59;0.59	T	0.23547	-1.0185	10	0.40728	T	0.16	-0.4011	7.364	0.26762	0.0:0.081:0.4972:0.4217	.	228;190;190;190	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	R	190;228	ENSP00000267485:Q190R	ENSP00000267485:Q190R	Q	-	2	0	C14orf37	57675261	0.003000	0.15002	0.001000	0.08648	0.004000	0.04260	0.207000	0.17395	0.158000	0.19367	0.533000	0.62120	CAA	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412059.1		-	ENST00000267485.7	Missense_Mutation	SNP	14 : 58605508 - 58605508 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	488	88
KCTD11	147040	broad.mit.edu	37	17	7256609	7256609	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7256609C>T	ENST00000333751.3	+	1	1402	c.348C>T	c.(346-348)tcC>tcT	p.S116S	RP11-542C16.1_ENST00000572417.1_RNA	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	116					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				AGCTGAGCTCCGTCCAGGTGG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	65	70			NA	NA	17		NA											NA				7256609		2203	4300	6503	SO:0001819	synonymous_variant			AK056227	CCDS32545.1	17p13.2	2013-06-20	2013-06-20	2003-11-26	ENSG00000213859	ENSG00000213859	147040	147040			21302	protein-coding gene	gene with protein product		609848	chromosome 17 open reading frame 36, potassium channel tetramerisation domain containing 11	C17orf36	NA	12186855, 21472142	Standard	NM_001002914	NM_001002914	NA	Approved	REN, KCASH1	uc002gge.4	Q693B1	OTTHUMG00000132061	ENST00000333751.3:c.348C>T	17.37:g.7256609C>T		NA	B3KPE0	37	CCDS32545.1																																																																																			KCTD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255084.2		+	ENST00000333751.3	Silent	SNP	17 : 7256609 - 7256609 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	501	17
SPEF2	79925	broad.mit.edu	37	5	35691298	35691298	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35691298G>T	ENST00000440995.2	+	11	1684	c.1684G>T	c.(1684-1686)Gga>Tga	p.G562*	SPEF2_ENST00000356031.3_Nonsense_Mutation_p.G562*|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Nonsense_Mutation_p.G562*			Q9C093	SPEF2_HUMAN	sperm flagellar 2	562					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)			TGCTGTTAAAGGATGCTTATT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	132	132			NA	NA	5		NA											NA				35691298		1866	4092	5958	SO:0001587	stop_gained			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.1684G>T	5.37:g.35691298G>T	ENSP00000412125:p.Gly562*	NA	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	37		.	.	.	.	.	.	.	.	.	.	G	36	5.879303	0.97055	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995;ENST00000504054	.	.	.	5.6	5.6	0.85130	.	0.198962	0.43747	D	0.000532	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	17.4062	0.87474	0.0:0.0:1.0:0.0	.	.	.	.	X	562;562;562;73	.	ENSP00000348314:G562X	G	+	1	0	SPEF2	35727055	1.000000	0.71417	0.970000	0.41538	0.456000	0.32438	4.705000	0.61838	2.628000	0.89032	0.585000	0.79938	GGA	SPEF2-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000367203.1		+	ENST00000440995.2	Nonsense_Mutation	SNP	5 : 35691298 - 35691298 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	576	96
ENPEP	2028	broad.mit.edu	37	4	111431456	111431456	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:111431456G>A	ENST00000265162.5	+	6	1592	c.1250G>A	c.(1249-1251)gGa>gAa	p.G417E		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	417					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CTAAATGAAGGATTTGCTTCT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													231	234	233			NA	NA	4		NA											NA				111431456		2203	4300	6503	SO:0001583	missense			L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	2028	2028	3.4.11.7	CD molecules	3355	protein-coding gene	gene with protein product		138297			NA	9268642	Standard		NM_001977	NA	Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1250G>A	4.37:g.111431456G>A	ENSP00000265162:p.Gly417Glu	NA	Q504U2	37	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098730	0.94197	.	.	ENSG00000138792	ENST00000265162	T	0.24350	1.86	5.4	5.4	0.78164	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.72399	0.3455	H	0.99391	4.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85786	0.1364	10	0.87932	D	0	.	19.1557	0.93509	0.0:0.0:1.0:0.0	.	417	Q07075	AMPE_HUMAN	E	417	ENSP00000265162:G417E	ENSP00000265162:G417E	G	+	2	0	ENPEP	111650905	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.810000	0.99221	2.522000	0.85027	0.650000	0.86243	GGA	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255747.2		+	ENST00000265162.5	Missense_Mutation	SNP	4 : 111431456 - 111431456 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	516	95
C11orf58	10944	broad.mit.edu	37	11	16766172	16766172	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16766172G>A	ENST00000228136.4	+	2	466	c.88G>A	c.(88-90)Gca>Aca	p.A30T	C11orf58_ENST00000527893.1_3'UTR|C11orf58_ENST00000525684.1_Missense_Mutation_p.A30T|C11orf58_ENST00000422258.2_5'UTR			O00193	SMAP_HUMAN	chromosome 11 open reading frame 58	30										NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)	7						TTGGGAGGCAGCAGACTTGGG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	86	88			NA	NA	11		NA											NA				16766172		2200	4294	6494	SO:0001583	missense			BC007103	CCDS7822.1	11p15.1	2012-05-30			ENSG00000110696	ENSG00000110696	10944	10944			16990	protein-coding gene	gene with protein product	small acidic protein				NA	9263035	Standard	NM_014267	NM_014267	NA	Approved	SMAP	uc001mmk.2	O00193	OTTHUMG00000165910	ENST00000228136.4:c.88G>A	11.37:g.16766172G>A	ENSP00000228136:p.Ala30Thr	NA	B2RD28	37	CCDS7822.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912490	0.92178	.	.	ENSG00000110696	ENST00000228136;ENST00000528634;ENST00000525684	.	.	.	5.41	5.41	0.78517	.	0.052795	0.85682	D	0.000000	T	0.79137	0.4395	M	0.73962	2.25	0.80722	D	1	D	0.67145	0.996	D	0.73708	0.981	T	0.80910	-0.1171	9	0.72032	D	0.01	.	17.3274	0.87252	0.0:0.0:1.0:0.0	.	30	O00193	SMAP_HUMAN	T	30	.	ENSP00000228136:A30T	A	+	1	0	C11orf58	16722748	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.710000	0.84655	2.685000	0.91497	0.585000	0.79938	GCA	C11orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387023.2		+	ENST00000228136.4	Missense_Mutation	SNP	11 : 16766172 - 16766172 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	299	79
CALU	813	broad.mit.edu	37	7	128394377	128394377	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128394377G>T	ENST00000249364.4	+	3	385	c.283G>T	c.(283-285)Gac>Tac	p.D95Y	CALU_ENST00000542996.2_Intron|CALU_ENST00000479257.1_Missense_Mutation_p.D103Y|CALU_ENST00000449187.2_Intron|CALU_ENST00000535623.1_Missense_Mutation_p.D103Y|CALU_ENST00000535011.2_Missense_Mutation_p.D95Y|CALU_ENST00000538546.1_Intron	NM_001219.4	NP_001210.1	O43852	CALU_HUMAN	calumenin	95	EF-hand 1.				platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding			kidney(2)|large_intestine(3)|lung(5)	10						TGAGCTCAAAGACTGGATTAA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	117	122			NA	NA	7		NA											NA				128394377		2203	4300	6503	SO:0001583	missense			AF013759	CCDS5805.1, CCDS47703.1, CCDS56506.1, CCDS56507.1, CCDS56508.1	7q32	2013-01-10			ENSG00000128595	ENSG00000128595	813	813		EF-hand domain containing	1458	protein-coding gene	gene with protein product		603420			NA	9598325	Standard	NM_001219	NM_001219	NA	Approved		uc003vnq.3	O43852	OTTHUMG00000158274	ENST00000249364.4:c.283G>T	7.37:g.128394377G>T	ENSP00000249364:p.Asp95Tyr	NA	O60456|Q6FHB9|Q96RL3|Q9NR43	37	CCDS5805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.05|18.05	3.536564|3.536564	0.65085|0.65085	.|.	.|.	ENSG00000128595|ENSG00000128595	ENST00000342367|ENST00000535623;ENST00000538394;ENST00000535011;ENST00000249364;ENST00000479257	.|T;T;T;T	.|0.70869	.|-0.52;-0.52;-0.52;-0.52	6.11|6.11	6.11|6.11	0.99139|0.99139	.|EF-hand-like domain (1);	.|0.996520	.|0.08137	.|N	.|0.992275	.|T	.|0.77089	.|0.4079	L|L	0.45352|0.45352	1.415|1.415	0.80722|0.80722	D|D	1|1	.|B	.|0.26120	.|0.142	.|B	.|0.41988	.|0.372	.|T	.|0.63607	.|-0.6599	.|10	.|0.54805	.|T	.|0.06	.|-4.93	18.228|18.228	0.89924|0.89924	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|95	.|O43852	.|CALU_HUMAN	.|Y	-1|103;95;95;95;103	.|ENSP00000439139:D103Y;ENSP00000442110:D95Y;ENSP00000249364:D95Y;ENSP00000420381:D103Y	.|ENSP00000249364:D95Y	.|D	+|+	.|1	.|0	CALU|CALU	128181613|128181613	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.547000|2.547000	0.45786|0.45786	2.906000|2.906000	0.99361|0.99361	0.655000|0.655000	0.94253|0.94253	.|GAC	CALU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350533.1		+	ENST00000249364.4	Missense_Mutation	SNP	7 : 128394377 - 128394377 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	458	74
NOS1AP	9722	broad.mit.edu	37	1	162324979	162324979	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162324979C>T	ENST00000361897.5	+	7	1000	c.598C>T	c.(598-600)Cgc>Tgc	p.R200C	NOS1AP_ENST00000530878.1_Missense_Mutation_p.R195C	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	200					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			TCCTGCAGGCCGCCAGCTCAC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG,CYS/ARG	3,4403	8.1+/-20.4	0,3,2200	56	57	57		583,598	4.5	1	1		57	0,8600		0,0,4300	no	missense,missense	NOS1AP	NM_001164757.1,NM_014697.2	180,180	0,3,6500	TT,TC,CC	NA	0.0,0.0681,0.0231	benign,benign	195/502,200/507	162324979	3,13003	2203	4300	6503	SO:0001583	missense			AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929	9722	9722			16859	protein-coding gene	gene with protein product	C-terminal PDZ domain ligand of neuronal nitric oxide synthase	605551			NA	9455484, 9459447	Standard	NM_014697	NM_001126060	NA	Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.598C>T	1.37:g.162324979C>T	ENSP00000355133:p.Arg200Cys	NA	O43564|Q5VU95	37	CCDS1237.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718500	0.48622	6.81E-4	0.0	ENSG00000198929	ENST00000530878;ENST00000361897	T;T	0.78481	-1.18;-1.18	5.41	4.49	0.54785	.	0.258632	0.40144	N	0.001173	T	0.42314	0.1197	N	0.13003	0.285	.	.	.	B;B;B	0.23591	0.088;0.018;0.018	B;B;B	0.08055	0.003;0.003;0.003	T	0.39921	-0.9590	9	0.45353	T	0.12	.	7.3999	0.26958	0.0:0.8359:0.0:0.1641	.	195;195;200	E9PSG0;B7ZLF5;O75052	.;.;CAPON_HUMAN	C	195;200	ENSP00000431586:R195C;ENSP00000355133:R200C	ENSP00000355133:R200C	R	+	1	0	NOS1AP	160591603	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.114000	0.41911	2.523000	0.85059	0.655000	0.94253	CGC	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060555.2		+	ENST00000361897.5	Missense_Mutation	SNP	1 : 162324979 - 162324979 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	528	88
SMARCD3	6604	broad.mit.edu	37	7	150936233	150936233	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150936233G>A	ENST00000392811.2	-	14	1843	c.1369C>T	c.(1369-1371)Cgc>Tgc	p.R457C	SMARCD3_ENST00000356800.2_Missense_Mutation_p.R457C|SMARCD3_ENST00000262188.8_Missense_Mutation_p.R470C	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	470					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCTGCCTGCGCTGCTGGATC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	109	109			NA	NA	7		NA											NA				150936233		2203	4300	6503	SO:0001583	missense			U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014	6604	6604			11108	protein-coding gene	gene with protein product	mammalian chromatin remodeling complex BRG1-associated factor 60C, Swp73-like protein, SWI/SNF complex 60 kDa subunit C, 60kDa BRG-1/Brm associated factor subunit c	601737			NA	8804307, 9693044	Standard	NM_001003801	NM_001003801	NA	Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431	ENST00000392811.2:c.1369C>T	7.37:g.150936233G>A	ENSP00000376558:p.Arg457Cys	NA	D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	37	CCDS5924.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726761	0.48833	.	.	ENSG00000082014	ENST00000262188;ENST00000392811;ENST00000356800;ENST00000347683	T;T;T	0.50548	0.74;0.77;0.77	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.70064	0.3181	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.76071	0.556;0.987	T	0.75230	-0.3391	10	0.87932	D	0	-9.877	15.7995	0.78443	0.0:0.0:1.0:0.0	.	457;470	Q6STE5-2;Q6STE5	.;SMRD3_HUMAN	C	470;457;457;422	ENSP00000262188:R470C;ENSP00000376558:R457C;ENSP00000349254:R457C	ENSP00000262188:R470C	R	-	1	0	SMARCD3	150567166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.928000	0.28831	2.401000	0.81631	0.655000	0.94253	CGC	SMARCD3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348824.1		-	ENST00000392811.2	Missense_Mutation	SNP	7 : 150936233 - 150936233 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	729	128
TNFAIP2	7127	broad.mit.edu	37	14	103597432	103597432	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103597432C>T	ENST00000560869.1	+	7	1882	c.1243C>T	c.(1243-1245)Ctg>Ttg	p.L415L	TNFAIP2_ENST00000333007.1_Silent_p.L415L|TNFAIP2_ENST00000451723.2_Silent_p.L84L			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	415					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			AGGCAAGCAGCTGACGAATTA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	92	96			NA	NA	14		NA											NA				103597432		2203	4300	6503	SO:0001819	synonymous_variant				CCDS9979.1	14q32	2011-01-31				ENSG00000185215	7127	7127			11895	protein-coding gene	gene with protein product	exocyst complex component 3-like 3	603300			NA	1374453	Standard	NM_006291	NM_006291	NA	Approved	B94, EXOC3L3	uc001ymm.1	Q03169		ENST00000560869.1:c.1243C>T	14.37:g.103597432C>T		NA	Q86VI0	37	CCDS9979.1																																																																																			TNFAIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415674.1		+	ENST00000560869.1	Silent	SNP	14 : 103597432 - 103597432 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	552	101
SLC45A1	50651	broad.mit.edu	37	1	8390791	8390791	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8390791G>A	ENST00000471889.1	+	5	1623	c.1238G>A	c.(1237-1239)cGc>cAc	p.R413H	SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000289877.8_Missense_Mutation_p.R413H|SLC45A1_ENST00000377479.2_Missense_Mutation_p.R447H			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	413					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTTCTACCGCCAGGACCGT	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	29	28			NA	NA	1		NA											NA				8390791		2202	4299	6501	SO:0001583	missense			AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426	50651	50651		Solute carriers	17939	protein-coding gene	gene with protein product	H+/sugar symporter	605763	deleted in neuroblastoma 5	DNB5	NA	10729226	Standard		XM_005263467	NA	Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1238G>A	1.37:g.8390791G>A	ENSP00000418096:p.Arg413His	NA	Q5VY46|Q5VY49	37	CCDS30577.1	.	.	.	.	.	.	.	.	.	.	G	7.956	0.745892	0.15710	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	T;T;T	0.17691	2.27;2.26;2.27	4.45	1.4	0.22301	.	1.298210	0.04555	N	0.390578	T	0.14917	0.0360	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33059	-0.9883	10	0.41790	T	0.15	-13.1605	7.6663	0.28432	0.421:0.0:0.579:0.0	.	413	Q9Y2W3	S45A1_HUMAN	H	413;447;413	ENSP00000418096:R413H;ENSP00000366699:R447H;ENSP00000289877:R413H	ENSP00000289877:R413H	R	+	2	0	SLC45A1	8313378	0.001000	0.12720	0.945000	0.38365	0.434000	0.31775	0.196000	0.17176	-0.000000	0.14550	0.561000	0.74099	CGC	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000001245.5		+	ENST00000471889.1	Missense_Mutation	SNP	1 : 8390791 - 8390791 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	16
ADAMTSL1	92949	broad.mit.edu	37	9	18721548	18721548	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:18721548G>A	ENST00000276935.6	+	15	1891	c.1891G>A	c.(1891-1893)Gtg>Atg	p.V631M	ADAMTSL1_ENST00000380548.4_Missense_Mutation_p.V631M			Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	631	TSP type-1 5.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCAGGAGGCTGTGGTGAGCTG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	100	99			NA	NA	9		NA											NA				18721548		2203	4300	6503	SO:0001583	missense			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031	92949	92949		Immunoglobulin superfamily / I-set domain containing	14632	protein-coding gene	gene with protein product	punctin	609198	chromosome 9 open reading frame 94	C9orf94	NA	9628581, 11805097	Standard		NM_001040272	NA	Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000276935.6:c.1891G>A	9.37:g.18721548G>A	ENSP00000276935:p.Val631Met	NA	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	37		.	.	.	.	.	.	.	.	.	.	G	21.3	4.121444	0.77436	.	.	ENSG00000178031	ENST00000380548;ENST00000276935	T;T	0.61392	0.11;0.11	5.86	5.86	0.93980	.	.	.	.	.	T	0.63733	0.2536	L	0.39020	1.185	0.80722	D	1	D	0.69078	0.997	D	0.63877	0.919	T	0.60031	-0.7342	9	0.35671	T	0.21	.	13.052	0.58960	0.0739:0.0:0.9261:0.0	.	631	Q8N6G6	ATL1_HUMAN	M	631	ENSP00000369921:V631M;ENSP00000276935:V631M	ENSP00000276935:V631M	V	+	1	0	ADAMTSL1	18711548	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.476000	0.73587	2.774000	0.95407	0.650000	0.86243	GTG	ADAMTSL1-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000051804.5		+	ENST00000276935.6	Missense_Mutation	SNP	9 : 18721548 - 18721548 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	686	33
REXO1	57455	broad.mit.edu	37	19	1819095	1819095	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1819095C>T	ENST00000170168.4	-	8	2780	c.2686G>A	c.(2686-2688)Gtg>Atg	p.V896M		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	896						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCCCAACACCACCTCGTGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	38	38			NA	NA	19		NA											NA				1819095		2203	4298	6501	SO:0001583	missense			AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313	57455	57455			24616	protein-coding gene	gene with protein product	elongin A binding protein 1	609614	transcription elongation factor B polypeptide 3 binding protein 1	TCEB3BP1	NA	10574461	Standard	NM_020695	NM_020695	NA	Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.2686G>A	19.37:g.1819095C>T	ENSP00000170168:p.Val896Met	NA	Q9ULT2	37	CCDS32866.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955945	0.73902	.	.	ENSG00000079313	ENST00000170168;ENST00000543452	T	0.16597	2.33	3.98	2.91	0.33838	.	0.000000	0.64402	U	0.000001	T	0.26231	0.0640	L	0.53249	1.67	0.52501	D	0.999958	P;P	0.51057	0.941;0.874	B;P	0.53146	0.374;0.719	T	0.02150	-1.1205	10	0.72032	D	0.01	-18.672	10.5817	0.45259	0.1932:0.8068:0.0:0.0	.	205;896	B4DWY3;Q8N1G1	.;REXO1_HUMAN	M	896;168	ENSP00000170168:V896M	ENSP00000170168:V896M	V	-	1	0	REXO1	1770095	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	4.543000	0.60684	0.992000	0.38840	0.561000	0.74099	GTG	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449200.1		-	ENST00000170168.4	Missense_Mutation	SNP	19 : 1819095 - 1819095 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	271	55
BUB3	9184	broad.mit.edu	37	10	124919965	124919965	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124919965A>C	ENST00000368859.2	+	4	501				BUB3_ENST00000368858.5_Missense_Mutation_p.T154P|BUB3_ENST00000538238.1_Missense_Mutation_p.T74P|BUB3_ENST00000368865.4_Missense_Mutation_p.T154P			O43684	BUB3_HUMAN	BUB3 mitotic checkpoint protein	NA					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				GATTGTGGGAACAGCAGGCCG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(161;1111 1985 17553 20049 26037)							NA				0													143	138	140			NA	NA	10		NA											NA				124919965		2203	4300	6503	SO:0001627	intron_variant			AF053304	CCDS7635.1, CCDS31306.1	10q24	2013-01-17	2013-01-17		ENSG00000154473	ENSG00000154473	9184	9184		WD repeat domain containing	1151	protein-coding gene	gene with protein product		603719	BUB3 (budding uninhibited by benzimidazoles 3, yeast) homolog, budding uninhibited by benzimidazoles 3 homolog (yeast)		NA	9660858	Standard		NM_004725	NA	Approved	BUB3L	uc001lhe.2	O43684	OTTHUMG00000019197	ENST00000368859.2:c.417+2569A>C	10.37:g.124919965A>C		NA	A6NJ42|B2R6E7|D3DRE9|O43685	37		.	.	.	.	.	.	.	.	.	.	A	28.2	4.898435	0.91962	.	.	ENSG00000154473	ENST00000368865;ENST00000538238;ENST00000368858;ENST00000407911	T;T;T;T	0.72394	-0.65;1.44;-0.65;-0.65	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101842	0.64402	D	0.000003	T	0.81866	0.4913	H	0.96142	3.775	0.80722	D	1	P;B	0.43024	0.798;0.412	B;B	0.42343	0.384;0.148	D	0.87596	0.2494	10	0.72032	D	0.01	0.0523	15.4116	0.74929	1.0:0.0:0.0:0.0	.	154;154	O43684;O43684-2	BUB3_HUMAN;.	P	154;74;154;154	ENSP00000357858:T154P;ENSP00000444354:T74P;ENSP00000357851:T154P;ENSP00000383941:T154P	ENSP00000357851:T154P	T	+	1	0	BUB3	124909955	1.000000	0.71417	0.972000	0.41901	0.991000	0.79684	9.307000	0.96226	2.085000	0.62840	0.533000	0.62120	ACA	BUB3-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000050838.2		+	ENST00000368859.2	Intron	SNP	10 : 124919965 - 124919965 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	664	139
NUTM1	256646	broad.mit.edu	37	15	34649317	34649317	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34649317G>T	ENST00000537011.1	+	8	3490	c.3108G>T	c.(3106-3108)aaG>aaT	p.K1036N	NUTM1_ENST00000438749.3_Missense_Mutation_p.K1026N|NUTM1_ENST00000333756.4_Missense_Mutation_p.K1008N	NM_001284292.1	NP_001271221.1			NUT midline carcinoma, family member 1	NA											NA						AAAAGAAAAAGGAAGCAGAGG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	48	51			NA	NA	15		NA											NA				34649317		2201	4298	6499	SO:0001583	missense			AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507	256646	256646			29919	protein-coding gene	gene with protein product	nuclear protein in testis	608963	chromosome 15 open reading frame 55	C15orf55	NA	12543779	Standard	NM_175741	NM_175741	NA	Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000537011.1:c.3108G>T	15.37:g.34649317G>T	ENSP00000444896:p.Lys1036Asn	NA		37		.	.	.	.	.	.	.	.	.	.	G	8.831	0.939916	0.18281	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000333756	T;T;T	0.08720	3.06;3.06;3.06	3.76	0.54	0.17163	.	.	.	.	.	T	0.04770	0.0129	N	0.22421	0.69	0.09310	N	1	B;B;B	0.32160	0.244;0.358;0.244	B;B;B	0.26770	0.033;0.073;0.033	T	0.39563	-0.9608	9	0.40728	T	0.16	.	4.9622	0.14072	0.4501:0.0:0.5499:0.0	.	1026;1036;1008	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	N	1036;1026;1008	ENSP00000444896:K1036N;ENSP00000407031:K1026N;ENSP00000329448:K1008N	ENSP00000329448:K1008N	K	+	3	2	C15orf55	32436609	0.001000	0.12720	0.002000	0.10522	0.008000	0.06430	0.231000	0.17872	0.291000	0.22468	-0.140000	0.14226	AAG	NUTM1-001	PUTATIVE	downstream_ATG|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000418024.1		+	ENST00000537011.1	Missense_Mutation	SNP	15 : 34649317 - 34649317 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	222	32
DUSP22	56940	broad.mit.edu	37	6	345913	345913	+	Translation_Start_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:345913G>A	ENST00000604971.1	+	0	1052				DUSP22_ENST00000605315.1_De_novo_Start_OutOfFrame|DUSP22_ENST00000419235.2_Missense_Mutation_p.S83N|DUSP22_ENST00000605863.1_De_novo_Start_OutOfFrame|DUSP22_ENST00000605035.1_De_novo_Start_OutOfFrame|DUSP22_ENST00000603453.1_De_novo_Start_OutOfFrame|DUSP22_ENST00000344450.5_Missense_Mutation_p.S83N			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	NA					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CGCGGTGAGAGCTGCCTTGTA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	131	141			NA	NA	6		NA											NA				345913		2203	4300	6503					AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679	56940	56940		Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases	16077	protein-coding gene	gene with protein product					NA	9205128, 11717427	Standard	NM_020185	NM_001286555	NA	Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000604971.1:c.-62G>A	6.37:g.345913G>A		NA	B4DK56|Q59GW2|Q5VWR2|Q96AR1	37		.	.	.	.	.	.	.	.	.	.	G	6.942	0.543537	0.13250	.	.	ENSG00000112679	ENST00000344450	T	0.60171	0.21	5.41	5.41	0.78517	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.219153	0.40469	N	0.001099	T	0.11836	0.0288	N	0.00605	-1.335	0.49213	D	0.999763	B;B;B	0.25850	0.0;0.025;0.136	B;B;B	0.23716	0.002;0.048;0.048	T	0.41805	-0.9488	10	0.05959	T	0.93	.	19.2039	0.93722	0.0:0.0:1.0:0.0	.	83;40;83	Q9NRW4-2;B3KSA8;Q9NRW4	.;.;DUS22_HUMAN	N	83	ENSP00000345281:S83N	ENSP00000345281:S83N	S	+	2	0	DUSP22	290913	1.000000	0.71417	1.000000	0.80357	0.332000	0.28634	6.583000	0.74053	2.523000	0.85059	0.655000	0.94253	AGC	DUSP22-015	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000470062.1		+	ENST00000604971.1	De_novo_Start_OutOfFrame	SNP	6 : 345913 - 345913 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	484	59
PLEKHH2	130271	broad.mit.edu	37	2	43965632	43965632	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43965632G>A	ENST00000282406.4	+	20	3206	c.3096G>A	c.(3094-3096)caG>caA	p.Q1032Q		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1032	MyTH4.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GACGAAGACAGCCACAGAATC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	84	83			NA	NA	2		NA											NA				43965632		2203	4300	6503	SO:0001819	synonymous_variant			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527	130271	130271		Pleckstrin homology (PH) domain containing	30506	protein-coding gene	gene with protein product		612723			NA		Standard	NM_172069	NM_172069	NA	Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.3096G>A	2.37:g.43965632G>A		NA	Q5JPJ6|Q6P4Q1|Q8N3Q3	37	CCDS1812.1																																																																																			PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250537.1		+	ENST00000282406.4	Silent	SNP	2 : 43965632 - 43965632 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	529	146
KIAA1257	57501	broad.mit.edu	37	3	128706495	128706495	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128706495C>T	ENST00000515659.1	-	3	787	c.295G>A	c.(295-297)Ggc>Agc	p.G99S	KIAA1257_ENST00000511438.1_Missense_Mutation_p.G211S|KIAA1257_ENST00000265068.5_Missense_Mutation_p.G211S|KIAA1257_ENST00000510149.1_5'UTR			Q9ULG3	K1257_HUMAN	KIAA1257	211								p.G211C(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						TCTGTGAAGCCGGCAGTCTTT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											137	134	135			NA	NA	3		NA											NA				128706495		1848	4079	5927	SO:0001583	missense			AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656	57501	57501			29231	protein-coding gene	gene with protein product					NA	10574462	Standard	NM_020741	NM_020741	NA	Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000515659.1:c.295G>A	3.37:g.128706495C>T	ENSP00000422539:p.Gly99Ser	NA	Q8IXY7|Q8N5T4	37		.	.	.	.	.	.	.	.	.	.	C	13.01	2.110812	0.37242	.	.	ENSG00000114656	ENST00000511438;ENST00000265068;ENST00000515659	.	.	.	5.13	1.18	0.20946	.	1.276940	0.05705	N	0.594801	T	0.18215	0.0437	N	0.19112	0.55	0.09310	N	1	B;B	0.34181	0.44;0.44	B;B	0.25405	0.06;0.06	T	0.15809	-1.0424	9	0.13108	T	0.6	-1.7784	4.2781	0.10818	0.1632:0.5601:0.0:0.2768	.	211;211	Q9ULG3;D6RH05	K1257_HUMAN;.	S	211;211;99	.	ENSP00000265068:G211S	G	-	1	0	KIAA1257	130189185	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.417000	0.07088	0.258000	0.21686	-0.225000	0.12378	GGC	KIAA1257-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000358432.1		-	ENST00000515659.1	Missense_Mutation	SNP	3 : 128706495 - 128706495 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	477	84
ARMCX2	9823	broad.mit.edu	37	X	100911186	100911186	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100911186G>A	ENST00000328766.5	-	5	1842	c.1389C>T	c.(1387-1389)ggC>ggT	p.G463G	ARMCX2_ENST00000356824.4_Silent_p.G463G|ARMCX2_ENST00000330154.2_Silent_p.G463G	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	463						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CCTGAAGCCGGCCCTGATTTT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	124	125			NA	NA	X		NA											NA				100911186		2203	4300	6503	SO:0001819	synonymous_variant			AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867	9823	9823		Armadillo repeat containing	16869	protein-coding gene	gene with protein product		300363			NA	9628581, 11162520, 16221301, 22569362	Standard	NM_014782	XM_005278109	NA	Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.1389C>T	X.37:g.100911186G>A		NA	O60267|Q5H9D9	37	CCDS14490.1																																																																																			ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057586.1		-	ENST00000328766.5	Silent	SNP	X : 100911186 - 100911186 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	553	164
TBC1D9	23158	broad.mit.edu	37	4	141591969	141591969	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141591969G>T	ENST00000442267.2	-	7	1245	c.1171C>A	c.(1171-1173)Cta>Ata	p.L391I		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	391						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CTCTGCACTAGAAAGTCTCTA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	151	151			NA	NA	4		NA											NA				141591969		1905	4113	6018	SO:0001583	missense			AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436	23158	23158		EF-hand domain containing	21710	protein-coding gene	gene with protein product			TBC1 domain family, member 9		NA	12970790	Standard	NM_015130	NM_015130	NA	Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.1171C>A	4.37:g.141591969G>T	ENSP00000411197:p.Leu391Ile	NA	A6H8U8|D3DNZ1|O94958	37	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414502	0.83449	.	.	ENSG00000109436	ENST00000442267	T	0.11169	2.8	5.45	3.61	0.41365	.	0.000000	0.85682	D	0.000000	T	0.26666	0.0652	M	0.79475	2.455	0.80722	D	1	D	0.56035	0.974	P	0.58013	0.831	T	0.02294	-1.1181	10	0.49607	T	0.09	-4.1014	11.3372	0.49511	0.1577:0.0:0.8423:0.0	.	391	Q6ZT07	TBCD9_HUMAN	I	391	ENSP00000411197:L391I	ENSP00000411197:L391I	L	-	1	2	TBC1D9	141811419	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	4.760000	0.62235	1.333000	0.45449	0.650000	0.86243	CTA	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364806.1		-	ENST00000442267.2	Missense_Mutation	SNP	4 : 141591969 - 141591969 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	467	97
SCYL1	57410	broad.mit.edu	37	11	65300199	65300199	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65300199G>T	ENST00000524944.1	+	9	1186	c.1153G>T	c.(1153-1155)Gtc>Ttc	p.V385F	SCYL1_ENST00000279270.6_Missense_Mutation_p.V385F|SCYL1_ENST00000525364.1_Missense_Mutation_p.V385F|SCYL1_ENST00000270176.5_Missense_Mutation_p.V385F|SCYL1_ENST00000420247.2_Missense_Mutation_p.V385F|SCYL1_ENST00000533862.1_Missense_Mutation_p.V385F|SCYL1_ENST00000527009.1_Missense_Mutation_p.V242F			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	385					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						CGAGCCAACAGTCAACACCCA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	124	118			NA	NA	11		NA											NA				65300199		2161	4252	6413	SO:0001583	missense			AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186	57410	57410			14372	protein-coding gene	gene with protein product	teratoma-associated tyrosine kinase, telomerase transcriptional elements-interacting factor, telomerase regulation-associated protein	607982	N-terminal kinase-like	NTKL	NA	11118629	Standard	NM_020680	NM_020680	NA	Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000524944.1:c.1153G>T	11.37:g.65300199G>T	ENSP00000432175:p.Val385Phe	NA	A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	37		.	.	.	.	.	.	.	.	.	.	G	18.74	3.689093	0.68271	.	.	ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000527630;ENST00000349495;ENST00000279270;ENST00000524944;ENST00000527009	T;T;T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17	4.18	4.18	0.49190	Armadillo-like helical (1);Armadillo-type fold (1);	0.138171	0.47852	D	0.000220	T	0.48960	0.1529	M	0.88241	2.94	0.80722	D	1	B;D;P;B;P	0.60160	0.228;0.987;0.516;0.399;0.774	B;P;B;B;B	0.61397	0.15;0.888;0.373;0.287;0.271	T	0.61118	-0.7127	10	0.87932	D	0	-11.1604	14.353	0.66716	0.0:0.0:1.0:0.0	.	385;385;385;385;385	E9PS17;Q96KG9-4;Q96KG9-6;Q96KG9-2;Q96KG9	.;.;.;.;NTKL_HUMAN	F	385;385;385;385;385;385;385;385;242	ENSP00000270176:V385F;ENSP00000431635:V385F;ENSP00000408192:V385F;ENSP00000437254:V385F;ENSP00000433450:V385F;ENSP00000279270:V385F;ENSP00000432175:V385F;ENSP00000436993:V242F	ENSP00000270176:V385F	V	+	1	0	SCYL1	65056775	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	8.470000	0.90399	2.074000	0.62210	0.462000	0.41574	GTC	SCYL1-005	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000389161.2		+	ENST00000524944.1	Missense_Mutation	SNP	11 : 65300199 - 65300199 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	272	51
C4orf50	389197	broad.mit.edu	37	4	5977679	5977679	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5977679C>T	ENST00000531445.1	-	3	1640	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K	C4orf50_ENST00000324058.5_Missense_Mutation_p.E58K			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	58										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						TGAAGTTCTTCAAGCTGAAAT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	108	111			NA	NA	4		NA											NA				5977679		2203	4300	6503	SO:0001583	missense			BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215	389197	389197			33766	protein-coding gene	gene with protein product					NA		Standard	NM_207405	XM_003119922	NA	Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000531445.1:c.1594G>A	4.37:g.5977679C>T	ENSP00000437121:p.Glu532Lys	NA		37		.	.	.	.	.	.	.	.	.	.	C	9.182	1.023939	0.19433	.	.	ENSG00000181215	ENST00000531445;ENST00000324058	T;T	0.25250	1.81;1.81	3.2	0.226	0.15353	.	1.293370	0.05830	N	0.617356	T	0.19604	0.0471	L	0.43152	1.355	0.09310	N	1	P	0.36535	0.557	B	0.30572	0.117	T	0.23726	-1.0180	10	0.54805	T	0.06	0.1767	5.5477	0.17073	0.0:0.4933:0.3869:0.1198	.	58	Q6ZRC1	CD050_HUMAN	K	532;58	ENSP00000437121:E532K;ENSP00000317287:E58K	ENSP00000317287:E58K	E	-	1	0	C4orf50	6028580	0.002000	0.14202	0.000000	0.03702	0.046000	0.14306	0.081000	0.14823	-0.111000	0.12001	0.455000	0.32223	GAA	C4orf50-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000314647.3		-	ENST00000531445.1	Missense_Mutation	SNP	4 : 5977679 - 5977679 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	276	26
GATAD2B	57459	broad.mit.edu	37	1	153800602	153800602	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153800602G>A	ENST00000368655.4	-	2	465	c.222C>T	c.(220-222)ggC>ggT	p.G74G		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	74						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTTCTTCATAGCCCTTGACAC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													224	190	202			NA	NA	1		NA											NA				153800602		2203	4300	6503	SO:0001819	synonymous_variant			AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614	57459	57459		GATA zinc finger domain containing	30778	protein-coding gene	gene with protein product	transcription repressor p66 beta component of the MeCP1 complex	614998			NA	10574461, 11756549	Standard	NM_020699	NM_020699	NA	Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.222C>T	1.37:g.153800602G>A		NA	D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	37	CCDS1054.1																																																																																			GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090305.1		-	ENST00000368655.4	Silent	SNP	1 : 153800602 - 153800602 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	975	175
ANKRD12	23253	broad.mit.edu	37	18	9255009	9255009	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9255009C>T	ENST00000262126.4	+	9	1984	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	ANKRD12_ENST00000383440.2_Missense_Mutation_p.R559W|ANKRD12_ENST00000400020.3_Missense_Mutation_p.R559W	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	NA						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TGATCTTGTTCGGTATGATAA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	66	65			NA	NA	18		NA											NA				9255009		2202	4297	6499	SO:0001583	missense			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745	23253	23253		Ankyrin repeat domain containing	29135	protein-coding gene	gene with protein product		610616			NA	10048485	Standard	NM_015208	NM_001204056	NA	Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.1744C>T	18.37:g.9255009C>T	ENSP00000262126:p.Arg582Trp	NA	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	37	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.021177	0.54576	.	.	ENSG00000101745	ENST00000383440;ENST00000262126;ENST00000359158	D;D	0.92647	-3.08;-3.08	5.92	4.97	0.65823	.	0.057065	0.64402	D	0.000001	D	0.95984	0.8692	M	0.77820	2.39	0.47778	D	0.999513	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.987;0.971	D	0.96146	0.9104	10	0.87932	D	0	-8.2663	17.8287	0.88674	0.1302:0.8698:0.0:0.0	.	209;559;582	Q9NXU3;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	W	559;582;289	ENSP00000372932:R559W;ENSP00000262126:R582W	ENSP00000262126:R582W	R	+	1	2	ANKRD12	9245009	1.000000	0.71417	0.937000	0.37676	0.988000	0.76386	3.404000	0.52623	2.814000	0.96858	0.585000	0.79938	CGG	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254478.2		+	ENST00000262126.4	Missense_Mutation	SNP	18 : 9255009 - 9255009 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	65
OR5W2	390148	broad.mit.edu	37	11	55681230	55681230	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55681230A>C	ENST00000344514.1	-	1	828	c.829T>G	c.(829-831)Ttt>Gtt	p.F277V		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGGGTGTAAAACAATGAGGTC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(48;171 1190 15239 43886 49348)							NA				0													60	67	65			NA	NA	11		NA											NA				55681230		2201	4296	6497	SO:0001583	missense			BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612	390148	390148		GPCR / Class A : Olfactory receptors	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P	NA		Standard	NM_001001960	NM_001001960	NA	Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.829T>G	11.37:g.55681230A>C	ENSP00000342448:p.Phe277Val	NA		37	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	A	12.30	1.896046	0.33442	.	.	ENSG00000187612	ENST00000344514	T	0.00158	8.65	5.01	3.87	0.44632	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41396	D	0.000882	T	0.00384	0.0012	M	0.74881	2.28	0.20926	N	0.999825	D	0.67145	0.996	D	0.74023	0.982	T	0.41502	-0.9505	10	0.87932	D	0	.	6.6093	0.22743	0.8109:0.0:0.1891:0.0	.	277	Q8NH69	OR5W2_HUMAN	V	277	ENSP00000342448:F277V	ENSP00000342448:F277V	F	-	1	0	OR5W2	55437806	0.008000	0.16893	0.241000	0.24154	0.243000	0.25628	1.659000	0.37387	0.748000	0.32831	0.448000	0.29417	TTT	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391523.1		-	ENST00000344514.1	Missense_Mutation	SNP	11 : 55681230 - 55681230 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	247	38
SOX11	6664	broad.mit.edu	37	2	5832971	5832971	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:5832971G>T	ENST00000322002.3	+	1	173	c.118G>T	c.(118-120)Gac>Tac	p.D40Y		NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	40					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		GAGCGACCCAGACTGGTGCAA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	46	48			NA	NA	2		NA											NA				5832971		2203	4300	6503	SO:0001583	missense				CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887	6664	6664		SRY (sex determining region Y)-boxes	11191	protein-coding gene	gene with protein product	SRY-related HMG-box gene 11	600898			NA	8666406, 12637543	Standard	NM_003108	NM_003108	NA	Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.118G>T	2.37:g.5832971G>T	ENSP00000322568:p.Asp40Tyr	NA	Q4ZFV8	37	CCDS1654.1	.	.	.	.	.	.	.	.	.	.	g	24.3	4.515638	0.85389	.	.	ENSG00000176887	ENST00000322002	D	0.93811	-3.29	3.11	3.11	0.35812	High mobility group, superfamily (1);	0.000000	0.56097	U	0.000023	D	0.95351	0.8491	M	0.68593	2.085	0.53688	D	0.999976	D	0.64830	0.994	D	0.66351	0.943	D	0.95090	0.8221	10	0.49607	T	0.09	.	14.1887	0.65623	0.0:0.0:1.0:0.0	.	40	P35716	SOX11_HUMAN	Y	40	ENSP00000322568:D40Y	ENSP00000322568:D40Y	D	+	1	0	SOX11	5750422	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.351000	0.73022	1.445000	0.47624	0.466000	0.42574	GAC	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206698.1		+	ENST00000322002.3	Missense_Mutation	SNP	2 : 5832971 - 5832971 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	189	8
ENPP3	5169	broad.mit.edu	37	6	132043409	132043409	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132043409G>A	ENST00000414305.1	+	19	1938	c.1610G>A	c.(1609-1611)gGt>gAt	p.G537D	ENPP3_ENST00000358229.5_Missense_Mutation_p.G537D|ENPP3_ENST00000357639.3_Missense_Mutation_p.G537D			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	537					immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GGAACCCATGGTAGTTTAAAC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	139	145			NA	NA	6		NA											NA				132043409		2203	4300	6503	SO:0001583	missense			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	5169	5169	3.1.4.1, 3.6.1.9	CD molecules	3358	protein-coding gene	gene with protein product		602182		PDNP3	NA	9344668	Standard		NM_005021	NA	Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.1610G>A	6.37:g.132043409G>A	ENSP00000406261:p.Gly537Asp	NA	Q5JTL3	37	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842462	0.91197	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000358229	T;T;T	0.76839	-0.98;-0.98;-1.05	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000001	D	0.85465	0.5703	L	0.58925	1.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85201	0.1015	10	0.87932	D	0	-22.0949	20.1581	0.98126	0.0:0.0:1.0:0.0	.	537	O14638	ENPP3_HUMAN	D	537	ENSP00000406261:G537D;ENSP00000350265:G537D;ENSP00000350964:G537D	ENSP00000350265:G537D	G	+	2	0	ENPP3	132085102	1.000000	0.71417	0.956000	0.39512	0.990000	0.78478	7.942000	0.87708	2.937000	0.99478	0.650000	0.86243	GGT	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043627.2		+	ENST00000414305.1	Missense_Mutation	SNP	6 : 132043409 - 132043409 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	428	83
PTPRM	5797	broad.mit.edu	37	18	8244161	8244161	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8244161C>T	ENST00000332175.8	+	15	3443	c.2406C>T	c.(2404-2406)tgC>tgT	p.C802C	PTPRM_ENST00000444013.1_Silent_p.C589C|PTPRM_ENST00000400053.4_Silent_p.C740C|PTPRM_ENST00000580170.1_Silent_p.C802C|PTPRM_ENST00000400060.4_Silent_p.C802C	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	802					homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GCACAAACTGCGACGAGGCTT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	1,4405	2.1+/-5.4	0,1,2202	159	143	148		2406,2406	-0.1	1	18		148	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PTPRM	NM_001105244.1,NM_002845.3	,	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	,	802/1466,802/1453	8244161	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482	5797	5797		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	9675	protein-coding gene	gene with protein product		176888		PTPRL1	NA	1655529, 8404049	Standard		NM_002845	NA	Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.2406C>T	18.37:g.8244161C>T		NA	D3DUH8	37	CCDS11840.1																																																																																			PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254456.1		+	ENST00000332175.8	Silent	SNP	18 : 8244161 - 8244161 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	494	84
UBTD2	92181	broad.mit.edu	37	5	171638977	171638977	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171638977C>T	ENST00000393792.2	-	3	967	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K		NM_152277.2	NP_689490.2	Q8WUN7	UBTD2_HUMAN	ubiquitin domain containing 2	188	Ubiquitin-like.					cytoplasm				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTACCTGGTTCCACTCCCTCT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	121	125			NA	NA	5		NA											NA				171638977		2203	4300	6503	SO:0001583	missense			AF251700	CCDS4379.2	5q35.1	2008-10-30			ENSG00000168246	ENSG00000168246	92181	92181			24463	protein-coding gene	gene with protein product	dendritic cell derived ubiquitin like protein	610174			NA	12507522	Standard	NM_152277	NM_152277	NA	Approved	DC-UbP, MGC30022	uc003mbp.1	Q8WUN7	OTTHUMG00000130519	ENST00000393792.2:c.562G>A	5.37:g.171638977C>T	ENSP00000377381:p.Glu188Lys	NA	Q8TDQ3	37	CCDS4379.2	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151244	0.38021	.	.	ENSG00000168246	ENST00000393792	T	0.73897	-0.79	5.96	5.96	0.96718	Ubiquitin supergroup (1);Ubiquitin (2);	0.237161	0.49305	D	0.000146	T	0.65811	0.2727	N	0.25890	0.77	0.50632	D	0.999882	B	0.26935	0.164	B	0.29077	0.098	T	0.60068	-0.7335	10	0.30078	T	0.28	-13.0712	17.9158	0.88950	0.0:1.0:0.0:0.0	.	188	Q8WUN7	UBTD2_HUMAN	K	188	ENSP00000377381:E188K	ENSP00000377381:E188K	E	-	1	0	UBTD2	171571582	0.997000	0.39634	0.980000	0.43619	0.095000	0.18619	3.298000	0.51818	2.832000	0.97577	0.655000	0.94253	GAA	UBTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252936.1		-	ENST00000393792.2	Missense_Mutation	SNP	5 : 171638977 - 171638977 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	775	142
JAKMIP2	9832	broad.mit.edu	37	5	147030054	147030054	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147030054C>T	ENST00000265272.5	-	4	1151	c.684G>A	c.(682-684)gaG>gaA	p.E228E	JAKMIP2_ENST00000507386.1_Silent_p.E228E|JAKMIP2_ENST00000333010.6_Silent_p.E186E	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	228						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTCTGGGTCTCCAGTTCCT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	99	100			NA	NA	5		NA											NA				147030054		2203	4300	6503	SO:0001819	synonymous_variant			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049	9832	9832			29067	protein-coding gene	gene with protein product		611197			NA	9628581	Standard	NM_014790	NM_001270941	NA	Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.684G>A	5.37:g.147030054C>T		NA	A4ZZA7|A8K5G5|O60302|Q548S1	37	CCDS4285.1																																																																																			JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251941.1		-	ENST00000265272.5	Silent	SNP	5 : 147030054 - 147030054 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	420	72
DZIP1	22873	broad.mit.edu	37	13	96293679	96293679	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:96293679C>T	ENST00000361396.2	-	5	1305	c.467G>A	c.(466-468)gGc>gAc	p.G156D	DZIP1_ENST00000376829.2_Missense_Mutation_p.G156D|DZIP1_ENST00000361156.3_Missense_Mutation_p.G156D|DZIP1_ENST00000347108.3_Missense_Mutation_p.G156D|DZIP1_ENST00000466027.1_5'UTR	NM_014934.4	NP_055749.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	156					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			GCTCTGCTCGCCGTCGCAGTG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	45	51			NA	NA	13		NA											NA				96293679		2203	4300	6503	SO:0001583	missense			AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874	22873	22873		Zinc fingers, C2H2-type	20908	protein-coding gene	gene with protein product		608671	DAZ interacting protein 1		NA		Standard	NM_014934	NM_014934	NA	Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000361396.2:c.467G>A	13.37:g.96293679C>T	ENSP00000355175:p.Gly156Asp	NA	Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	37	CCDS9477.1	.	.	.	.	.	.	.	.	.	.	C	7.319	0.616484	0.14129	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.68	1.82	0.25136	.	0.964593	0.08613	N	0.919682	T	0.39279	0.1072	L	0.47716	1.5	0.09310	N	1	P;P;P	0.40360	0.583;0.666;0.714	B;B;P	0.45428	0.29;0.348;0.48	T	0.26538	-1.0100	10	0.33940	T	0.23	3.5486	4.333	0.11073	0.0:0.3601:0.3114:0.3285	.	156;156;156	Q05D25;Q86YF9-2;Q86YF9	.;.;DZIP1_HUMAN	D	156	ENSP00000257312:G156D;ENSP00000355018:G156D;ENSP00000355175:G156D;ENSP00000366025:G156D	ENSP00000257312:G156D	G	-	2	0	DZIP1	95091680	0.000000	0.05858	0.005000	0.12908	0.001000	0.01503	0.044000	0.13992	0.395000	0.25257	-0.136000	0.14681	GGC	DZIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045494.3		-	ENST00000361396.2	Missense_Mutation	SNP	13 : 96293679 - 96293679 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	239	36
KMT2B	9757	broad.mit.edu	37	19	36216437	36216437	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36216437G>A	ENST00000420124.1	+	12	3700	c.3700G>A	c.(3700-3702)Gag>Aag	p.E1234K	KMT2B_ENST00000222270.7_Missense_Mutation_p.E1234K|KMT2B_ENST00000607650.1_RNA					lysine (K)-specific methyltransferase 2B	NA											NA						GGAGGAGGCCGAGCGGCCCCT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	174	169			NA	NA	19		NA											NA				36216437		2079	4209	6288	SO:0001583	missense			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333	9757	9757		Chromatin-modifying enzymes / K-methyltransferases	15840	protein-coding gene	gene with protein product	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4	606834			NA	10409430, 10637508	Standard	NM_014727	XM_006723513	NA	Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000420124.1:c.3700G>A	19.37:g.36216437G>A	ENSP00000398837:p.Glu1234Lys	NA		37		.	.	.	.	.	.	.	.	.	.	G	18.94	3.729734	0.69074	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.89875	-2.58;-2.58	5.54	5.54	0.83059	Zinc finger, PHD-finger (1);Zinc finger, PHD-type (1);	0.000000	0.45126	D	0.000384	D	0.93831	0.8027	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.92254	0.5811	10	0.36615	T	0.2	.	18.4191	0.90582	0.0:0.0:1.0:0.0	.	1234	Q9UMN6	MLL4_HUMAN	K	1234	ENSP00000222270:E1234K;ENSP00000398837:E1234K	ENSP00000222270:E1234K	E	+	1	0	AD000671.1	40908277	1.000000	0.71417	0.888000	0.34837	0.981000	0.71138	9.077000	0.94016	2.884000	0.98904	0.655000	0.94253	GAG	KMT2B-203	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding			+	ENST00000420124.1	Missense_Mutation	SNP	19 : 36216437 - 36216437 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1238	268
ZC3H13	23091	broad.mit.edu	37	13	46563006	46563006	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46563006G>A	ENST00000242848.4	-	9	1519	c.1171C>T	c.(1171-1173)Cat>Tat	p.H391Y	ZC3H13_ENST00000282007.3_Missense_Mutation_p.H391Y			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	391	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GGAGAGCGATGTCTTGGAGGA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(187;747 2077 11056 31291 44172)							NA				0													149	129	136			NA	NA	13		NA											NA				46563006		2203	4300	6503	SO:0001583	missense			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200	23091	23091		Zinc fingers, CCCH-type domain containing	20368	protein-coding gene	gene with protein product			KIAA0853	KIAA0853	NA	10048485	Standard	NM_015070	XM_005266301	NA	Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.1171C>T	13.37:g.46563006G>A	ENSP00000242848:p.His391Tyr	NA	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	37		.	.	.	.	.	.	.	.	.	.	G	15.87	2.959377	0.53400	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	T;T	0.35421	2.27;1.31	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000004	T	0.50240	0.1604	L	0.34521	1.04	0.80722	D	1	D;D	0.67145	0.993;0.996	P;D	0.62955	0.813;0.909	T	0.48068	-0.9067	10	0.66056	D	0.02	.	20.0804	0.97772	0.0:0.0:1.0:0.0	.	391;391	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	Y	391;391;207	ENSP00000242848:H391Y;ENSP00000282007:H391Y	ENSP00000242848:H391Y	H	-	1	0	ZC3H13	45461007	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.859000	0.86982	2.738000	0.93877	0.655000	0.94253	CAT	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000044789.1		-	ENST00000242848.4	Missense_Mutation	SNP	13 : 46563006 - 46563006 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	264	57
GCM1	8521	broad.mit.edu	37	6	53010408	53010408	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:53010408G>T	ENST00000259803.7	-	2	234	c.23C>A	c.(22-24)tCt>tAt	p.S8Y		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	8						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					TTTGTCTTCAGAATCAAAGTC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	125	127			NA	NA	6		NA											NA				53010408		2203	4300	6503	SO:0001583	missense			D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270	8521	8521			4197	protein-coding gene	gene with protein product		603715	glial cells missing (Drosophila) homolog a	GCMA	NA	8962155	Standard		NM_003643	NA	Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.23C>A	6.37:g.53010408G>T	ENSP00000259803:p.Ser8Tyr	NA	Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	37	CCDS4950.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034932	0.35893	.	.	ENSG00000137270	ENST00000259803	T	0.76186	-1.0	5.21	4.32	0.51571	.	0.394862	0.24115	N	0.041401	T	0.62405	0.2425	L	0.46157	1.445	0.09310	N	1	D	0.55385	0.971	P	0.52710	0.707	T	0.58515	-0.7623	10	0.62326	D	0.03	-6.206	7.9103	0.29787	0.0811:0.0:0.7584:0.1605	.	8	Q9NP62	GCM1_HUMAN	Y	8	ENSP00000259803:S8Y	ENSP00000259803:S8Y	S	-	2	0	GCM1	53118367	0.443000	0.25641	0.376000	0.26042	0.789000	0.44602	2.207000	0.42788	1.138000	0.42230	0.655000	0.94253	TCT	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040953.1		-	ENST00000259803.7	Missense_Mutation	SNP	6 : 53010408 - 53010408 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	622	119
RDH11	51109	broad.mit.edu	37	14	68159251	68159251	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68159251T>G	ENST00000381346.4	-	3	363	c.253A>C	c.(253-255)Atc>Ctc	p.I85L	RDH11_ENST00000428130.2_Missense_Mutation_p.I85L|RDH11_ENST00000553384.1_Missense_Mutation_p.I72L	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	85					retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	GTGGTCTGGATCTCTTTGGCC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													213	202	206			NA	NA	14		NA											NA				68159251		2203	4300	6503	SO:0001583	missense			AF151840	CCDS32104.1, CCDS58326.1	14q24.1	2013-10-15	2006-05-09		ENSG00000072042	ENSG00000072042	51109	51109	1.1.1.-	Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2	17964	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 7C, member 1, androgen-regulated short-chain dehydrogenase/reductase 1	607849	retinol dehydrogenase 11 (all-trans and 9-cis)		NA	12226107, 8018917, 19027726	Standard		NM_016026	NA	Approved	MDT1, SDR7C1, ARSDR1	uc001xjv.4	Q8TC12	OTTHUMG00000171196	ENST00000381346.4:c.253A>C	14.37:g.68159251T>G	ENSP00000370750:p.Ile85Leu	NA	A6NDK3|A8K062|B2RB26|Q6IAH5|Q9NRW0|Q9Y391	37	CCDS32104.1	.	.	.	.	.	.	.	.	.	.	T	19.96	3.923609	0.73213	.	.	ENSG00000072042	ENST00000381346;ENST00000553384;ENST00000428130	D;D;D	0.84223	-1.82;-1.82;-1.82	5.41	5.41	0.78517	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.83362	0.5238	N	0.21617	0.685	0.58432	D	0.999999	P;P;P	0.43477	0.756;0.808;0.551	P;P;P	0.50754	0.555;0.517;0.649	D	0.84727	0.0743	10	0.49607	T	0.09	.	15.4448	0.75220	0.0:0.0:0.0:1.0	.	85;72;85	B4DDW0;Q8TC12-2;Q8TC12	.;.;RDH11_HUMAN	L	85;72;85	ENSP00000370750:I85L;ENSP00000452079:I72L;ENSP00000416395:I85L	ENSP00000370750:I85L	I	-	1	0	RDH11	67229004	1.000000	0.71417	0.995000	0.50966	0.226000	0.24999	6.738000	0.74822	2.048000	0.60808	0.528000	0.53228	ATC	RDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412257.3		-	ENST00000381346.4	Missense_Mutation	SNP	14 : 68159251 - 68159251 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1104	175
SPATA17	128153	broad.mit.edu	37	1	217824443	217824443	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:217824443T>A	ENST00000366933.4	+	3	218	c.163T>A	c.(163-165)Tta>Ata	p.L55I		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	55	IQ 1.|IQ 2.					cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TCCTAGGCATTTAAACAGGAT	0.284		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	1		NA											NA				217824443		2202	4288	6490	SO:0001583	missense			AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814	128153	128153			25184	protein-coding gene	gene with protein product	IQ motif containing H	611032			NA	16395525	Standard	NM_138796	NM_138796	NA	Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.163T>A	1.37:g.217824443T>A	ENSP00000355900:p.Leu55Ile	NA		37	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	T	17.49	3.401820	0.62288	.	.	ENSG00000162814	ENST00000366933	T	0.73575	-0.76	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000002	T	0.79257	0.4415	L	0.48877	1.53	0.33333	D	0.568893	D	0.89917	1.0	D	0.91635	0.999	T	0.82788	-0.0284	10	0.45353	T	0.12	-6.4751	7.6782	0.28499	0.0:0.097:0.0:0.903	.	55	Q96L03	SPT17_HUMAN	I	55	ENSP00000355900:L55I	ENSP00000355900:L55I	L	+	1	2	SPATA17	215891066	0.993000	0.37304	0.561000	0.28357	0.035000	0.12851	1.911000	0.39937	1.964000	0.57103	0.528000	0.53228	TTA	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092433.2		+	ENST00000366933.4	Missense_Mutation	SNP	1 : 217824443 - 217824443 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	335	48
CASQ1	844	broad.mit.edu	37	1	160160767	160160767	+	Missense_Mutation	SNP	G	G	A	rs79469730	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160160767G>A	ENST00000368078.3	+	1	422	c.226G>A	c.(226-228)Gag>Aag	p.E76K	CASQ1_ENST00000368079.3_Missense_Mutation_p.E70K			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	76						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGAACCCCCCGAGGATGACAA	0.522		NA											G	3	0.0014	0.01	NA	2184	NA	1	,	,	NA	0.001	NA	NA	NA	0.0013	0.9839	LOWCOV	NA	NA	0.0028	SNP								NA				0								G	LYS/GLU	11,4395	17.9+/-39.9	0,11,2192	97	92	94		226	4.2	1	1	dbSNP_133	94	3,8597	3.0+/-9.4	0,3,4297	yes	missense	CASQ1	NM_001231.4	56	0,14,6489	AA,AG,GG	NA	0.0349,0.2497,0.1076	possibly-damaging	76/397	160160767	14,12992	2203	4300	6503	SO:0001583	missense			S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318	844	844		Protein disulfide isomerases	1512	protein-coding gene	gene with protein product	calsequestrin 1, fast-twitch, skeletal muscle, calmitine	114250		CASQ	NA	8406504, 2321095	Standard	NM_001231	NM_001231	NA	Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.226G>A	1.37:g.160160767G>A	ENSP00000357057:p.Glu76Lys	NA	B1AKZ2|B2R863|Q8TBW7	37	CCDS1198.2	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	10.66	1.412613	0.25465	0.002497	3.49E-4	ENSG00000143318	ENST00000368079;ENST00000368078	T;T	0.37915	1.17;1.17	4.21	4.21	0.49690	Thioredoxin-like fold (2);	0.128784	0.51477	D	0.000095	T	0.11153	0.0272	L	0.38838	1.175	0.36259	D	0.854407	B	0.29936	0.262	B	0.19148	0.024	T	0.03910	-1.0993	10	0.06494	T	0.89	.	15.5765	0.76392	0.0:0.0:1.0:0.0	.	76	P31415	CASQ1_HUMAN	K	70;76	ENSP00000357058:E70K;ENSP00000357057:E76K	ENSP00000357057:E76K	E	+	1	0	CASQ1	158427391	0.013000	0.17824	1.000000	0.80357	0.994000	0.84299	1.134000	0.31442	2.202000	0.70862	0.449000	0.29647	GAG	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077412.1		+	ENST00000368078.3	Missense_Mutation	SNP	1 : 160160767 - 160160767 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	283	72
DNAH8	1769	broad.mit.edu	37	6	38790628	38790628	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38790628G>A	ENST00000359357.3	+	25	3141	c.2887G>A	c.(2887-2889)Gct>Act	p.A963T	DNAH8_ENST00000441566.1_Missense_Mutation_p.A963T|DNAH8_ENST00000449981.2_Missense_Mutation_p.A1180T					dynein, axonemal, heavy chain 8	NA										NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTTGAAGAAGCTATTCCTGC	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA	0,4406		0,0,2203	36	38	37		3538	-6.8	0	6		37	2,8598	2.2+/-6.3	0,2,4298	yes	missense	DNAH8	NM_001206927.1	58	0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154	benign	1180/4708	38790628	2,13004	2203	4300	6503	SO:0001583	missense			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721	1769	1769		Axonemal dyneins	2952	protein-coding gene	gene with protein product		603337	dynein, axonemal, heavy polypeptide 8		NA	9373155	Standard	NM_001206927	NM_001206927	NA	Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.2887G>A	6.37:g.38790628G>A	ENSP00000352312:p.Ala963Thr	NA		37		.	.	.	.	.	.	.	.	.	.	G	7.936	0.741757	0.15642	0.0	2.33E-4	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.25085	1.86;1.85;1.82	5.12	-6.83	0.01693	.	1.350950	0.04674	N	0.411146	T	0.03608	0.0103	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27157	-1.0082	10	0.10377	T	0.69	.	12.1701	0.54152	0.3127:0.1087:0.5787:0.0	.	963	Q96JB1	DYH8_HUMAN	T	1168;1168;963;963	ENSP00000333363:A1168T;ENSP00000352312:A963T;ENSP00000402294:A963T	ENSP00000333363:A1168T	A	+	1	0	DNAH8	38898606	0.000000	0.05858	0.002000	0.10522	0.933000	0.57130	-1.057000	0.03486	-1.304000	0.02329	-0.471000	0.05019	GCT	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000043574.1		+	ENST00000359357.3	Missense_Mutation	SNP	6 : 38790628 - 38790628 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	197	17
ENG	2022	broad.mit.edu	37	9	130581937	130581937	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130581937C>T	ENST00000344849.3	-	10	1555	c.1275G>A	c.(1273-1275)gcG>gcA	p.A425A	RP11-228B15.4_ENST00000439298.1_RNA|ENG_ENST00000373203.4_Silent_p.A425A|ENG_ENST00000480266.1_Intron|RP11-228B15.4_ENST00000425991.1_RNA			P17813	EGLN_HUMAN	endoglin	425	Ser/Thr-rich.				artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						TATTGACCACCGCCTGCGGGG	0.607		NA							Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	36	36			NA	NA	9		NA											NA				130581937		2201	4300	6501	SO:0001819	synonymous_variant	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991	2022	2022		CD molecules	3349	protein-coding gene	gene with protein product		131195	Osler-Rendu-Weber syndrome 1	ORW1, ORW	NA	8404038, 10548503	Standard		NM_001278138	NA	Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000344849.3:c.1275G>A	9.37:g.130581937C>T		NA	Q14248|Q14926|Q5T9C0	37	CCDS6880.1																																																																																			ENG-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054312.1		-	ENST00000344849.3	Silent	SNP	9 : 130581937 - 130581937 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	65	24
SERPINB9	5272	broad.mit.edu	37	6	2896327	2896327	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:2896327G>A	ENST00000380698.4	-	3	355	c.266C>T	c.(265-267)gCc>gTc	p.A89V		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	89					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GAGCCTGTTGGCCGTTCTCAG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	98	99			NA	NA	6		NA											NA				2896327		2203	4300	6503	SO:0001583	missense			L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542	5272	5272		Serine (or cysteine) peptidase inhibitors	8955	protein-coding gene	gene with protein product		601799	serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9	PI9	NA	8530382, 9858835, 24172014	Standard		NM_004155	NA	Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.266C>T	6.37:g.2896327G>A	ENSP00000370074:p.Ala89Val	NA	B2RBW3|Q5TD03	37	CCDS4478.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204303	0.79127	.	.	ENSG00000170542	ENST00000380698	D	0.87029	-2.2	4.21	4.21	0.49690	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.89128	0.6627	M	0.81614	2.55	0.80722	D	1	D	0.63046	0.992	P	0.52454	0.699	D	0.90084	0.4172	10	0.54805	T	0.06	.	15.6929	0.77469	0.0:0.0:1.0:0.0	.	89	P50453	SPB9_HUMAN	V	89	ENSP00000370074:A89V	ENSP00000370074:A89V	A	-	2	0	SERPINB9	2841326	1.000000	0.71417	0.996000	0.52242	0.364000	0.29643	8.832000	0.92079	2.342000	0.79632	0.655000	0.94253	GCC	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039656.1		-	ENST00000380698.4	Missense_Mutation	SNP	6 : 2896327 - 2896327 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	396	72
UROC1	131669	broad.mit.edu	37	3	126208217	126208217	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126208217G>A	ENST00000290868.2	-	17	1663	c.1610C>T	c.(1609-1611)gCg>gTg	p.A537V	UROC1_ENST00000383579.3_Splice_Site_p.A597V	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	537					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GACCACCGGCGCCTGTGCATG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA,VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	90	80	83		1790,1610	4.6	1	3		83	0,8600		0,0,4300	no	missense-near-splice,missense-near-splice	UROC1	NM_001165974.1,NM_144639.2	64,64	0,2,6501	AA,AG,GG	NA	0.0,0.0454,0.0154	probably-damaging,probably-damaging	597/737,537/677	126208217	2,13004	2203	4300	6503	SO:0001630	splice_region_variant			AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	131669	131669	4.2.1.49		26444	protein-coding gene	gene with protein product	urocanase 1	613012	urocanase domain containing 1		NA	19304569	Standard	NM_144639	NM_144639	NA	Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1609-1C>T	3.37:g.126208217G>A		NA	Q14C64	37	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902816	0.72754	4.54E-4	0.0	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.55930	0.49;0.49	4.59	4.59	0.56863	Urocanase domain (2);	0.052993	0.85682	D	0.000000	T	0.77096	0.4080	H	0.94462	3.54	0.80722	D	1	D;D	0.71674	0.994;0.998	P;D	0.66979	0.867;0.948	T	0.82884	-0.0236	10	0.87932	D	0	-21.838	11.2004	0.48739	0.0:0.1864:0.8136:0.0	.	597;537	E9PE13;Q96N76	.;HUTU_HUMAN	V	537;597	ENSP00000290868:A537V;ENSP00000373073:A597V	ENSP00000290868:A537V	A	-	2	0	UROC1	127690907	1.000000	0.71417	0.962000	0.40283	0.717000	0.41224	6.627000	0.74258	2.247000	0.74100	0.491000	0.48974	GCG	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370325.2	Missense_Mutation	-	ENST00000290868.2	Splice_Site	SNP	3 : 126208217 - 126208217 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	72
KCNQ1	3784	broad.mit.edu	37	11	2606516	2606516	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2606516G>A	ENST00000155840.5	+	8	1215	c.1107G>A	c.(1105-1107)ccG>ccA	p.P369P	KCNQ1_ENST00000335475.5_Silent_p.P242P	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	369					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	GGCAGATCCCGGCGGCAGCCT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	75	78			NA	NA	11		NA											NA				2606516		2202	4299	6501	SO:0001819	synonymous_variant			AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918	3784	3784		Potassium channels, Voltage-gated ion channels / Potassium channels	6294	protein-coding gene	gene with protein product	Jervell and Lange-Nielsen syndrome 1	607542		LQT, KCNA9	NA	8528244, 16382104	Standard	NM_000218	NM_181798	NA	Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.1107G>A	11.37:g.2606516G>A		NA	O00347|O60607|O94787|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	37	CCDS7736.1																																																																																			KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000027382.2		+	ENST00000155840.5	Silent	SNP	11 : 2606516 - 2606516 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	439	21
TRIO	7204	broad.mit.edu	37	5	14485295	14485295	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14485295C>T	ENST00000344204.4	+	47	6799	c.6775C>T	c.(6775-6777)Cgg>Tgg	p.R2259W	TRIO_ENST00000537187.1_Missense_Mutation_p.R2259W	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2259	PH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCCAAGTGTCCGGCAAACTTG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	121	123			NA	NA	5		NA											NA				14485295		2203	4300	6503	SO:0001583	missense			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382	7204	7204		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing	12303	protein-coding gene	gene with protein product		601893	triple functional domain (PTPRF interacting)		NA	8643598	Standard	NM_007118	NM_007118	NA	Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.6775C>T	5.37:g.14485295C>T	ENSP00000339299:p.Arg2259Trp	NA	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	37	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528213	0.64860	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	T;T	0.12774	2.65;2.65	5.34	4.48	0.54585	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.123877	0.56097	D	0.000035	T	0.32704	0.0838	M	0.72894	2.215	0.49051	D	0.999743	D;D	0.76494	0.999;0.993	D;P	0.74023	0.982;0.548	T	0.04481	-1.0948	10	0.87932	D	0	.	8.9607	0.35845	0.1471:0.7786:0.0:0.0743	.	2259;2259	O75962-5;O75962	.;TRIO_HUMAN	W	2259;2259;1946	ENSP00000339299:R2259W;ENSP00000446348:R2259W	ENSP00000339299:R2259W	R	+	1	2	TRIO	14538295	0.999000	0.42202	1.000000	0.80357	0.942000	0.58702	2.479000	0.45197	1.260000	0.44134	-0.142000	0.14014	CGG	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253711.2		+	ENST00000344204.4	Missense_Mutation	SNP	5 : 14485295 - 14485295 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	610	95
STIM1	6786	broad.mit.edu	37	11	4104554	4104554	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4104554G>A	ENST00000300737.4	+	10	1869	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	STIM1_ENST00000533977.1_Missense_Mutation_p.E261K|STIM1_ENST00000527651.1_Missense_Mutation_p.E434K	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	434					activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		GCAACAGATCGAGATCCTCTG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	87	89			NA	NA	11		NA											NA				4104554		2201	4298	6499	SO:0001583	missense			BC021300, U52426	CCDS7749.1, CCDS60706.1, CCDS73247.1	11p15.5	2014-09-17			ENSG00000167323	ENSG00000167323	6786	6786		Sterile alpha motif (SAM) domain containing	11386	protein-coding gene	gene with protein product		605921			NA	8921403, 11463338, 11983428	Standard	NM_003156	NM_003156	NA	Approved	GOK, D11S4896E	uc021qco.1	Q13586	OTTHUMG00000133360	ENST00000300737.4:c.1300G>A	11.37:g.4104554G>A	ENSP00000300737:p.Glu434Lys	NA	Q8N382	37	CCDS7749.1	.	.	.	.	.	.	.	.	.	.	G	32	5.183147	0.94885	.	.	ENSG00000167323	ENST00000300737;ENST00000527651;ENST00000533977	T;D;T	0.87966	-1.33;-2.32;-1.27	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.93644	0.7970	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.75484	0.546;0.986	D	0.93930	0.7213	10	0.87932	D	0	-18.9901	18.7957	0.91993	0.0:0.0:1.0:0.0	.	434;434	E9PQJ4;Q13586	.;STIM1_HUMAN	K	434;434;261	ENSP00000300737:E434K;ENSP00000436208:E434K;ENSP00000434767:E261K	ENSP00000300737:E434K	E	+	1	0	STIM1	4061130	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	9.416000	0.97383	2.698000	0.92095	0.557000	0.71058	GAG	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257196.1		+	ENST00000300737.4	Missense_Mutation	SNP	11 : 4104554 - 4104554 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	365	13
PDIA2	64714	broad.mit.edu	37	16	335387	335387	+	Missense_Mutation	SNP	C	C	T	rs139827174	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:335387C>T	ENST00000219406.6	+	6	889	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W	PDIA2_ENST00000462950.1_3'UTR|PDIA2_ENST00000404312.1_Missense_Mutation_p.R288W	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	291					apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GGCTGCGCACCGGGAGCTCCT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0									TRP/ARG	2,3958		0,2,1978	30	33	32		871	-5.2	0.6	16	dbSNP_134	32	2,8310		0,2,4154	yes	missense	PDIA2	NM_006849.2	101	0,4,6132	TT,TC,CC	NA	0.0241,0.0505,0.0326	probably-damaging	291/526	335387	4,12268	1980	4156	6136	SO:0001583	missense			U19948	CCDS42089.1	16p13.3	2009-11-20	2005-06-29	2005-03-03	ENSG00000185615	ENSG00000185615	64714	64714	5.3.4.1	Protein disulfide isomerases	14180	protein-coding gene	gene with protein product		608012	protein disulfide isomerase, pancreatic, protein disulfide isomerase-associated 2	PDIP	NA	8561901	Standard	NM_006849	NM_006849	NA	Approved	PDA2, PDI, PDIR	uc002cgo.1	Q13087	OTTHUMG00000064891	ENST00000219406.6:c.871C>T	16.37:g.335387C>T	ENSP00000219406:p.Arg291Trp	NA	A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	37	CCDS42089.1	.	.	.	.	.	.	.	.	.	.	c	10.61	1.398440	0.25205	5.05E-4	2.41E-4	ENSG00000185615	ENST00000219406;ENST00000455994;ENST00000404312	T;T	0.14893	2.47;2.47	3.87	-5.16	0.02857	Thioredoxin-like fold (1);	0.825023	0.10819	N	0.630708	T	0.25865	0.0630	L	0.47716	1.5	0.09310	N	1	D	0.61080	0.989	P	0.58970	0.849	T	0.30031	-0.9992	10	0.87932	D	0	.	12.8524	0.57864	0.1846:0.7175:0.0:0.0979	.	291	Q13087	PDIA2_HUMAN	W	291;260;288	ENSP00000219406:R291W;ENSP00000384410:R288W	ENSP00000219406:R291W	R	+	1	2	PDIA2	275388	0.012000	0.17670	0.622000	0.29159	0.059000	0.15707	0.974000	0.29436	-0.593000	0.05844	-0.509000	0.04479	CGG	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000139315.3		+	ENST00000219406.6	Missense_Mutation	SNP	16 : 335387 - 335387 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	238	57
STOML3	161003	broad.mit.edu	37	13	39541021	39541021	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39541021G>A	ENST00000379631.4	-	7	1161	c.817C>T	c.(817-819)Cta>Tta	p.L273L	STOML3_ENST00000423210.1_Silent_p.L264L	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	273						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		ATGCCCTCTAGTATATTCATG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	95	96			NA	NA	13		NA											NA				39541021		2203	4300	6503	SO:0001819	synonymous_variant			BC025760	CCDS9367.1, CCDS45040.1	13q13.2	2004-03-05			ENSG00000133115	ENSG00000133115	NA	161003			19420	protein-coding gene	gene with protein product		608327			NA	12122055	Standard		NM_145286	NA	Approved	SRO, Epb7.2l	uc001uwx.3	Q8TAV4	OTTHUMG00000016763	ENST00000379631.4:c.817C>T	13.37:g.39541021G>A		NA	Q5JS35	37	CCDS9367.1																																																																																			STOML3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044604.2		-	ENST00000379631.4	Silent	SNP	13 : 39541021 - 39541021 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	387	72
KRTAP13-2	337959	broad.mit.edu	37	21	31744473	31744473	+	Missense_Mutation	SNP	C	C	T	rs146985381	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31744473C>T	ENST00000399889.2	-	1	84	c.59G>A	c.(58-60)cGc>cAc	p.R20H		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	20						intermediate filament				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						TGCTGGGTAGCGCAGGTAGTC	0.542		NA											c	6	0.0027	NA	NA	2184	0.01	0.9998	,	,	NA	3e-04	NA	NA	NA	0.0026	0.9672	LOWCOV,EXOME	NA	NA	8e-04	SNP								NA				0													147	130	136			NA	NA	21		NA											NA				31744473		2203	4300	6503	SO:0001583	missense			AP001708	CCDS13589.1	21q22.1	2011-02-10			ENSG00000182816	ENSG00000182816	337959	337959		Keratin associated proteins	18923	protein-coding gene	gene with protein product					NA	12359730	Standard		NM_181621	NA	Approved	KAP13-2	uc002ynz.4	Q52LG2	OTTHUMG00000057793	ENST00000399889.2:c.59G>A	21.37:g.31744473C>T	ENSP00000382777:p.Arg20His	NA		37	CCDS13589.1	6	0.0027472527472527475	0	0.0	0	0.0	6	0.01048951048951049	0	0.0	c	0.083	-1.180788	0.01633	.	.	ENSG00000182816	ENST00000399889	T	0.02890	4.12	4.42	-5.38	0.02673	.	1.384710	0.05163	N	0.498224	T	0.02047	0.0064	L	0.48260	1.515	0.09310	N	1	B	0.13594	0.008	B	0.16289	0.015	T	0.44574	-0.9319	10	0.15499	T	0.54	.	8.6683	0.34134	0.0:0.3444:0.1055:0.5501	.	20	Q52LG2	KR132_HUMAN	H	20	ENSP00000382777:R20H	ENSP00000382777:R20H	R	-	2	0	KRTAP13-2	30666344	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.123000	0.00594	-1.931000	0.01055	-0.722000	0.03604	CGC	KRTAP13-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128245.1		-	ENST00000399889.2	Missense_Mutation	SNP	21 : 31744473 - 31744473 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	802	69
MYO10	4651	broad.mit.edu	37	5	16668425	16668425	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16668425G>A	ENST00000513610.1	-	40	6490	c.6036C>T	c.(6034-6036)atC>atT	p.I2012I	MYO10_ENST00000427430.2_Silent_p.I1369I|MYO10_ENST00000274203.9_Silent_p.I1369I|MYO10_ENST00000515803.1_Silent_p.I1351I|MYO10_ENST00000505695.1_Silent_p.I1351I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	2012	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	p.I2012I(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CATCGACCACGATCTTATACG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											151	154	153			NA	NA	5		NA											NA				16668425		2008	4173	6181	SO:0001819	synonymous_variant			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555	4651	4651		Myosins / Myosin superfamily : Class X, Pleckstrin homology (PH) domain containing	7593	protein-coding gene	gene with protein product		601481			NA	8884266	Standard	NM_012334	NM_012334	NA	Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.6036C>T	5.37:g.16668425G>A		NA	A7E2D1|O94893|Q9NYM7|Q9P110|Q9P111|Q9UHF6	37	CCDS54834.1																																																																																			MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366167.1		-	ENST00000513610.1	Silent	SNP	5 : 16668425 - 16668425 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	756	98
HADHB	3032	broad.mit.edu	37	2	26501669	26501669	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26501669G>T	ENST00000317799.5	+	8	734	c.630G>T	c.(628-630)gaG>gaT	p.E210D	HADHB_ENST00000545822.1_Splice_Site_p.E188D|HADHB_ENST00000405867.3_Intron|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000537713.1_Splice_Site_p.E195D	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	210					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGCACCTGAGGTAAGGCTTG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	111	111			NA	NA	2		NA											NA				26501669		2203	4300	6503	SO:0001630	splice_region_variant				CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	3032	3032	2.3.1.16		4803	protein-coding gene	gene with protein product	mitochondrial trifunctional protein, beta subunit	143450	hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit		NA	9605857	Standard	NM_000183	NM_000183	NA	Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.630+1G>T	2.37:g.26501669G>T		NA	B2RB16|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	37	CCDS1722.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845401	0.71603	.	.	ENSG00000138029	ENST00000317799;ENST00000537713;ENST00000545822	D;D;D	0.93426	-3.21;-3.22;-3.2	5.06	5.06	0.68205	Thiolase, N-terminal (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	D	0.91456	0.7303	L	0.52573	1.65	0.80722	D	1	P;B;B	0.35944	0.529;0.337;0.337	B;B;B	0.37943	0.248;0.261;0.261	D	0.89801	0.3975	9	.	.	.	-22.557	17.5149	0.87770	0.0:0.0:1.0:0.0	.	195;188;210	F5GZQ3;B4E2W0;P55084	.;.;ECHB_HUMAN	D	210;195;188	ENSP00000325136:E210D;ENSP00000444295:E195D;ENSP00000442665:E188D	.	E	+	3	2	HADHB	26355173	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.495000	0.97964	2.788000	0.95919	0.650000	0.86243	GAG	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214050.2	Missense_Mutation	+	ENST00000317799.5	Splice_Site	SNP	2 : 26501669 - 26501669 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	671	116
MUC5B	727897	broad.mit.edu	37	11	1252652	1252652	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1252652G>A	ENST00000529681.1	+	14	1598		c.e14-1		MUC5B_ENST00000447027.1_Splice_Site	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	NA					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTCCCGGCAGCCAACATCAC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	35	34			NA	NA	11		NA											NA				1252652		2044	4201	6245	SO:0001630	splice_region_variant			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983	727897	727897		Mucins	7516	protein-coding gene	gene with protein product		600770	mucin 5, subtype B, tracheobronchial	MUC5	NA	9804771	Standard	XM_001126093	NM_002458	NA	Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.1541-1G>A	11.37:g.1252652G>A		NA	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	11.56	1.673878	0.29693	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	.	.	.	3.73	3.73	0.42828	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5066	0.75745	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MUC5B	1209228	1.000000	0.71417	0.882000	0.34594	0.119000	0.20118	8.723000	0.91458	1.614000	0.50241	0.462000	0.41574	.	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390041.2	Intron	+	ENST00000529681.1	Splice_Site	SNP	11 : 1252652 - 1252652 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	132	28
HOXB1	3211	broad.mit.edu	37	17	46607804	46607804	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46607804C>T	ENST00000239174.6	-	1	555	c.463G>A	c.(463-465)Gcc>Acc	p.A155T	HOXB1_ENST00000577092.1_Missense_Mutation_p.A155T	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	155						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCAGCATAGGCCGGTGCAAAG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	65	64			NA	NA	17		NA											NA				46607804		2203	4300	6503	SO:0001583	missense				CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094	3211	3211		Homeoboxes / ANTP class : HOXL subclass	5111	protein-coding gene	gene with protein product		142968	homeo box B1	HOX2, HOX2I	NA	1973146, 1358459	Standard		NM_002144	NA	Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.463G>A	17.37:g.46607804C>T	ENSP00000355140:p.Ala155Thr	NA		37	CCDS32675.1	.	.	.	.	.	.	.	.	.	.	C	3.193	-0.165467	0.06461	.	.	ENSG00000120094	ENST00000239174	D	0.89746	-2.56	4.71	-2.41	0.06562	.	0.641465	0.13801	N	0.361835	T	0.67674	0.2918	N	0.05078	-0.115	0.21020	N	0.999808	B	0.02656	0.0	B	0.04013	0.001	T	0.56251	-0.8010	10	0.16896	T	0.51	.	2.011	0.03488	0.2046:0.4212:0.1006:0.2737	.	155	P14653	HXB1_HUMAN	T	155	ENSP00000355140:A155T	ENSP00000355140:A155T	A	-	1	0	HOXB1	43962803	0.001000	0.12720	0.792000	0.32020	0.769000	0.43574	-0.397000	0.07269	-0.017000	0.14103	-0.899000	0.02877	GCC	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358383.3		-	ENST00000239174.6	Missense_Mutation	SNP	17 : 46607804 - 46607804 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	276	48
TTC8	123016	broad.mit.edu	37	14	89307480	89307480	+	Missense_Mutation	SNP	A	A	C	rs141439453	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89307480A>C	ENST00000338104.6	+	4	451	c.399A>C	c.(397-399)agA>agC	p.R133S	TTC8_ENST00000346301.4_Missense_Mutation_p.R133S|TTC8_ENST00000345383.5_Missense_Mutation_p.R133S|TTC8_ENST00000354441.6_Intron|TTC8_ENST00000380656.2_Missense_Mutation_p.R143S|TTC8_ENST00000536576.1_5'UTR			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	143					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GAACACCCAGAACCGCCTACA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	57	54			NA	NA	14		NA											NA				89307480		2203	4300	6503	SO:0001583	missense			AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533	123016	123016		Tetratricopeptide (TTC) repeat domain containing	20087	protein-coding gene	gene with protein product		608132			NA	14520415, 20451172	Standard	NM_144596	NM_144596	NA	Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000338104.6:c.399A>C	14.37:g.89307480A>C	ENSP00000337653:p.Arg133Ser	NA	A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	19.90|19.90|19.90	3.912562|3.912562|3.912562	0.72983|0.72983|0.72983	.|.|.	.|.|.	ENSG00000165533|ENSG00000165533|ENSG00000165533	ENST00000554686|ENST00000343648|ENST00000345383;ENST00000346301;ENST00000338104;ENST00000380656;ENST00000556651	.|.|T;T;T;T	.|.|0.80909	.|.|-1.3;-1.38;-1.43;-1.29	5.6|5.6|5.6	-0.831|-0.831|-0.831	0.10789|0.10789|0.10789	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	D|D|D	0.88366|0.88366|0.88366	0.6417|0.6417|0.6417	M|M|M	0.87547|0.87547|0.87547	2.89|2.89|2.89	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D;D;D;D	.|.|0.89917	.|.|0.993;1.0;0.999;1.0;0.998	.|.|D;D;D;D;D	.|.|0.87578	.|.|0.977;0.998;0.976;0.998;0.976	D|D|D	0.86104|0.86104|0.86104	0.1558|0.1558|0.1558	5|6|10	.|0.66056|0.62326	.|D|D	.|0.02|0.03	-19.6436|-19.6436|-19.6436	9.9788|9.9788|9.9788	0.41800|0.41800|0.41800	0.6661:0.0:0.3339:0.0|0.6661:0.0:0.3339:0.0|0.6661:0.0:0.3339:0.0	.|.|.	.|.|143;133;143;133;143	.|.|Q8TAM2;G3V2Z9;Q8TAM2-3;G3V324;Q8TAM2-4	.|.|TTC8_HUMAN;.;.;.;.	A|H|S	123|185|133;133;133;143;133	.|.|ENSP00000339486:R133S;ENSP00000298324:R133S;ENSP00000337653:R133S;ENSP00000370031:R143S	.|ENSP00000343586:N185H|ENSP00000337653:R133S	E|N|R	+|+|+	2|1|3	0|0|2	TTC8|TTC8|TTC8	88377233|88377233|88377233	0.925000|0.925000|0.925000	0.31364|0.31364|0.31364	0.943000|0.943000|0.943000	0.38184|0.38184|0.38184	0.827000|0.827000|0.827000	0.46813|0.46813|0.46813	0.162000|0.162000|0.162000	0.16501|0.16501|0.16501	-0.385000|-0.385000|-0.385000	0.07833|0.07833|0.07833	-0.371000|-0.371000|-0.371000	0.07208|0.07208|0.07208	GAA|AAC|AGA	TTC8-005	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000410864.1		+	ENST00000338104.6	Missense_Mutation	SNP	14 : 89307480 - 89307480 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	373	30
ERBB4	2066	broad.mit.edu	37	2	212285328	212285328	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212285328A>G	ENST00000342788.4	-	25	3283	c.2973T>C	c.(2971-2973)gaT>gaC	p.D991D	ERBB4_ENST00000436443.1_Silent_p.D991D|ERBB4_ENST00000402597.1_Silent_p.D981D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	991					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GCTTCATACGATCATCACCCT	0.363		NA								TSP Lung(8;0.080)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	76	76			NA	NA	2		NA											NA				212285328		2203	4299	6502	SO:0001819	synonymous_variant			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568	2066	2066			3432	protein-coding gene	gene with protein product		600543	v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4		NA	7700649, 17018285	Standard	NM_001042599	NM_001042599	NA	Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2973T>C	2.37:g.212285328A>G		NA	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	37	CCDS2394.1																																																																																			ERBB4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256597.1		-	ENST00000342788.4	Silent	SNP	2 : 212285328 - 212285328 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	80
SECISBP2L	9728	broad.mit.edu	37	15	49308835	49308835	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49308835T>C	ENST00000559471.1	-	11	1746	c.1483A>G	c.(1483-1485)Atg>Gtg	p.M495V	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.M450V	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	495										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						GCAGCTAACATGTCCCCTAAA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	156	163			NA	NA	15		NA											NA				49308835		2197	4295	6492	SO:0001583	missense			BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593	9728	9728			28997	protein-coding gene	gene with protein product		615756			NA		Standard	NM_014701	NM_001193489	NA	Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.1483A>G	15.37:g.49308835T>C	ENSP00000453854:p.Met495Val	NA	Q8N767	37	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.386745	0.82902	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.76186	-1.0	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.84848	0.5563	M	0.72118	2.19	0.54753	D	0.999981	D;D	0.61697	0.983;0.99	P;D	0.72982	0.708;0.979	D	0.84915	0.0850	10	0.44086	T	0.13	.	15.8819	0.79211	0.0:0.0:0.0:1.0	.	495;450	Q93073;Q93073-2	SBP2L_HUMAN;.	V	450;495	ENSP00000261847:M450V	ENSP00000261847:M450V	M	-	1	0	SECISBP2L	47096127	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.163000	0.77524	2.222000	0.72286	0.528000	0.53228	ATG	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417277.1		-	ENST00000559471.1	Missense_Mutation	SNP	15 : 49308835 - 49308835 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	63
ANKRD11	29123	broad.mit.edu	37	16	89348197	89348197	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89348197T>G	ENST00000301030.4	-	9	5213	c.4753A>C	c.(4753-4755)Agg>Cgg	p.R1585R	ANKRD11_ENST00000378330.2_Silent_p.R1585R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1585	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GACAGCATCCTCTCGAAGCTG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	69	72			NA	NA	16		NA											NA				89348197		2198	4300	6498	SO:0001819	synonymous_variant			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522	29123	29123		Ankyrin repeat domain containing	21316	protein-coding gene	gene with protein product		611192			NA	11483580	Standard	NM_013275	NM_001256182	NA	Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.4753A>C	16.37:g.89348197T>G		NA	Q6NTG1|Q6QMF8	37	CCDS32513.1																																																																																			ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000430462.3		-	ENST00000301030.4	Silent	SNP	16 : 89348197 - 89348197 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	523	22
PKDREJ	10343	broad.mit.edu	37	22	46656713	46656713	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46656713G>T	ENST00000253255.5	-	1	2506	c.2507C>A	c.(2506-2508)tCt>tAt	p.S836Y		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	836	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GTCTGATAGAGATTCTATTAC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	67	66			NA	NA	22		NA											NA				46656713		2203	4300	6503	SO:0001583	missense			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943	10343	10343			9015	protein-coding gene	gene with protein product		604670	polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like, polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like, polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)		NA	9949214, 10591208	Standard	NM_006071	NM_006071	NA	Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.2507C>A	22.37:g.46656713G>T	ENSP00000253255:p.Ser836Tyr	NA	B1AJY3|O95850	37	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424952	0.43020	.	.	ENSG00000130943	ENST00000253255	T	0.36699	1.24	5.18	3.0	0.34707	Egg jelly receptor, REJ-like (1);	0.806157	0.10979	N	0.612902	T	0.30665	0.0772	L	0.50333	1.59	0.09310	N	1	P	0.42620	0.785	B	0.41691	0.364	T	0.31779	-0.9931	10	0.59425	D	0.04	-10.9169	2.5692	0.04790	0.1803:0.1451:0.5255:0.1492	.	836	Q9NTG1	PKDRE_HUMAN	Y	836	ENSP00000253255:S836Y	ENSP00000253255:S836Y	S	-	2	0	PKDREJ	45035377	0.005000	0.15991	0.003000	0.11579	0.153000	0.21895	0.800000	0.27042	1.260000	0.44134	0.561000	0.74099	TCT	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318466.1		-	ENST00000253255.5	Missense_Mutation	SNP	22 : 46656713 - 46656713 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	218	46
MGA	23269	broad.mit.edu	37	15	42041402	42041402	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42041402C>A	ENST00000570161.1	+	16	5597	c.5597C>A	c.(5596-5598)cCt>cAt	p.P1866H	MGA_ENST00000566586.1_Missense_Mutation_p.P1657H|MGA_ENST00000545763.1_Missense_Mutation_p.P1657H|MGA_ENST00000389936.4_Missense_Mutation_p.P1827H|MGA_ENST00000219905.7_Missense_Mutation_p.P1866H			Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1827						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GTCATGAATCCTGTAATTCAA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	117	119			NA	NA	15		NA											NA				42041402		1973	4160	6133	SO:0001583	missense			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197	23269	23269		MAX dimerization proteins, T-boxes	14010	protein-coding gene	gene with protein product			MAX gene associated		NA		Standard	NM_001164273.1	NM_001080541	NA	Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.5597C>A	15.37:g.42041402C>A	ENSP00000457035:p.Pro1866His	NA	Q9H8R3|Q9H9N7|Q9UG69|Q9Y4E9	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344375	0.61073	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.22945	1.93;1.93;1.93	5.72	5.72	0.89469	.	0.455762	0.18443	N	0.141068	T	0.38931	0.1059	N	0.19112	0.55	0.30792	N	0.740823	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;P	0.70935	0.936;0.971;0.936;0.894	T	0.36866	-0.9730	10	0.87932	D	0	.	18.867	0.92296	0.0:1.0:0.0:0.0	.	482;1657;1866;1827	B4DVS1;F5H7K2;E7ENI0;Q8IWI9	.;.;.;MGAP_HUMAN	H	1866;1827;1657	ENSP00000219905:P1866H;ENSP00000374586:P1827H;ENSP00000442467:P1657H	ENSP00000219905:P1866H	P	+	2	0	MGA	39828694	0.995000	0.38212	1.000000	0.80357	0.874000	0.50279	4.034000	0.57289	2.704000	0.92352	0.563000	0.77884	CCT	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000420229.1		+	ENST00000570161.1	Missense_Mutation	SNP	15 : 42041402 - 42041402 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	482	20
MS4A14	84689	broad.mit.edu	37	11	60184368	60184368	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60184368G>A	ENST00000300187.6	+	5	2204	c.1927G>A	c.(1927-1929)Gat>Aat	p.D643N	MS4A14_ENST00000531783.1_Missense_Mutation_p.D676N|MS4A14_ENST00000395005.2_Missense_Mutation_p.D626N|MS4A14_ENST00000531787.1_Missense_Mutation_p.D531N	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	643	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GTTATGCCAAGATTCAGAATC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	87	86			NA	NA	11		NA											NA				60184368		2203	4300	6503	SO:0001583	missense			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928	84689	84689			30706	protein-coding gene	gene with protein product			membrane-spanning 4-domains, subfamily A, member 16	MS4A16	NA		Standard		NM_032597	NA	Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1927G>A	11.37:g.60184368G>A	ENSP00000300187:p.Asp643Asn	NA	Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	37	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.518792	0.27211	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.29655	1.56;2.82;1.57;3.18	3.84	0.661	0.17874	.	11.904300	0.00166	N	0.000000	T	0.22282	0.0537	L	0.27053	0.805	0.09310	N	0.999996	P;P	0.40107	0.703;0.578	B;B	0.36959	0.237;0.12	T	0.13872	-1.0493	10	0.46703	T	0.11	-3.5619	4.6492	0.12587	0.2117:0.0:0.6156:0.1727	.	626;643	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	N	531;643;626;676	ENSP00000437222:D531N;ENSP00000300187:D643N;ENSP00000378453:D626N;ENSP00000433761:D676N	ENSP00000300187:D643N	D	+	1	0	MS4A14	59940944	0.003000	0.15002	0.001000	0.08648	0.012000	0.07955	0.371000	0.20450	0.025000	0.15241	0.650000	0.86243	GAT	MS4A14-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395383.2		+	ENST00000300187.6	Missense_Mutation	SNP	11 : 60184368 - 60184368 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	399	74
CSRP2BP	57325	broad.mit.edu	37	20	18162409	18162409	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18162409G>A	ENST00000377681.3	+	7	1933	c.1724G>A	c.(1723-1725)cGc>cAc	p.R575H	CSRP2BP_ENST00000489634.2_Missense_Mutation_p.R448H|CSRP2BP_ENST00000435364.3_Missense_Mutation_p.R576H			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	NA					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						TTTTTGTATCGCTTGGTAGGA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	136	138			NA	NA	20		NA											NA				18162409		2203	4300	6503	SO:0001583	missense			AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474	57325	57325			15904	protein-coding gene	gene with protein product	cysteine rich protein 2 binding protein, ATAC component 2 homolog (Drosophila)				NA	9286703, 10924333, 19103755	Standard	NM_020536	NR_028402	NA	Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000377681.3:c.1724G>A	20.37:g.18162409G>A	ENSP00000366909:p.Arg575His	NA	A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	37		.	.	.	.	.	.	.	.	.	.	G	34	5.322696	0.95708	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.16897	2.31;2.31;2.31;2.32	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.45438	0.1342	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.98	T	0.42189	-0.9466	10	0.87932	D	0	-22.1899	19.3627	0.94446	0.0:0.0:1.0:0.0	.	448;576	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	H	576;575;576;448	ENSP00000278816:R576H;ENSP00000366909:R575H;ENSP00000392318:R576H;ENSP00000425909:R448H	ENSP00000278816:R576H	R	+	2	0	CSRP2BP	18110409	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	8.743000	0.91592	2.583000	0.87209	0.563000	0.77884	CGC	CSRP2BP-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000254919.2		+	ENST00000377681.3	Missense_Mutation	SNP	20 : 18162409 - 18162409 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	491	100
CXXC4	80319	broad.mit.edu	37	4	105412215	105412215	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:105412215G>A	ENST00000394767.2	-	2	1195	c.745C>T	c.(745-747)Cca>Tca	p.P249S	CXXC4_ENST00000426831.1_Missense_Mutation_p.P80S|AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000466963.1_Intron	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	80					negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		ATGACCCCTGGAGGTAATGAG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	91	88			NA	NA	4		NA											NA				105412215		2203	4300	6503	SO:0001583	missense				CCDS3665.1, CCDS3665.2	4q22-q24	2014-02-18	2011-12-01		ENSG00000168772	ENSG00000168772	80319	80319			24593	protein-coding gene	gene with protein product	Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)	611645			NA	11113207	Standard	NM_025212	NM_025212	NA	Approved	IDAX	uc003hxf.2	Q9H2H0	OTTHUMG00000131121	ENST00000394767.2:c.745C>T	4.37:g.105412215G>A	ENSP00000378248:p.Pro249Ser	NA		37	CCDS3665.2	.	.	.	.	.	.	.	.	.	.	G	17.96	3.517068	0.64634	.	.	ENSG00000168772	ENST00000394767;ENST00000426831	.	.	.	4.52	4.52	0.55395	.	0.379473	0.08080	U	1.000000	T	0.56187	0.1968	N	0.08118	0	0.54753	D	0.999983	D	0.63880	0.993	D	0.70227	0.968	T	0.56643	-0.7945	9	0.45353	T	0.12	-5.7325	15.454	0.75299	0.0:0.0:1.0:0.0	.	80	Q9H2H0	CXXC4_HUMAN	S	80	.	ENSP00000378248:P80S	P	-	1	0	CXXC4	105631664	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.567000	0.90737	2.241000	0.73720	0.479000	0.44913	CCA	CXXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253799.3		-	ENST00000394767.2	Missense_Mutation	SNP	4 : 105412215 - 105412215 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	690	30
AADACL2	344752	broad.mit.edu	37	3	151458616	151458616	+	Silent	SNP	G	G	A	rs144315490		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151458616G>A	ENST00000356517.3	+	2	430	c.321G>A	c.(319-321)gtG>gtA	p.V107V		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	107						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GGCGAGCTGTGATATATTTTC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	143	141			NA	NA	3		NA											NA				151458616		2203	4300	6503	SO:0001819	synonymous_variant			BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953	344752	344752			24427	protein-coding gene	gene with protein product					NA		Standard	NM_207365	NM_207365	NA	Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.321G>A	3.37:g.151458616G>A		NA	Q5HYJ4	37	CCDS3161.2																																																																																			AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342288.3		+	ENST00000356517.3	Silent	SNP	3 : 151458616 - 151458616 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	491	86
MET	4233	broad.mit.edu	37	7	116415084	116415084	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116415084C>T	ENST00000397752.3	+	15	3378	c.3178C>T	c.(3178-3180)Cca>Tca	p.P1060S	MET_ENST00000318493.6_Missense_Mutation_p.P1078S	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	MET proto-oncogene, receptor tyrosine kinase	1060					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TGCTCTAAATCCAGAGCTGGT	0.473		NA	Mis		papillary renal, head-neck squamous cell 	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0													188	186	186			NA	NA	7		NA											NA				116415084		2117	4249	6366	SO:0001583	missense	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	NA	4233	2.7.10.1		7029	protein-coding gene	gene with protein product	hepatocyte growth factor receptor	164860	met proto-oncogene		NA	1846706, 1611909	Standard		NM_001127500	NA	Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000397752.3:c.3178C>T	7.37:g.116415084C>T	ENSP00000380860:p.Pro1060Ser	NA	O60366|Q12875|Q9UDX7|Q9UPL8	37	CCDS43636.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684620	0.68157	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000454623	T;T	0.73789	-0.76;-0.78	5.62	5.62	0.85841	Protein kinase-like domain (1);	0.048031	0.85682	D	0.000000	T	0.80969	0.4726	L	0.43152	1.355	0.80722	D	1	P;D	0.76494	0.453;0.999	B;D	0.74348	0.185;0.983	T	0.79438	-0.1803	10	0.42905	T	0.14	.	14.8095	0.69982	0.1441:0.8559:0.0:0.0	.	1078;1060	P08581-2;P08581	.;MET_HUMAN	S	1060;1078;145	ENSP00000380860:P1060S;ENSP00000317272:P1078S	ENSP00000317272:P1078S	P	+	1	0	MET	116202320	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.267000	0.65530	2.795000	0.96236	0.655000	0.94253	CCA	MET-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000141947.3		+	ENST00000397752.3	Missense_Mutation	SNP	7 : 116415084 - 116415084 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	711	126
ZNF430	80264	broad.mit.edu	37	19	21205649	21205649	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21205649G>A	ENST00000261560.5	+	2	239	c.58G>A	c.(58-60)Gct>Act	p.A20T	ZNF430_ENST00000595401.1_Missense_Mutation_p.A20T|ZNF430_ENST00000599548.1_Missense_Mutation_p.A20T	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						ATGCCCTGGGGCTGACAGGAA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	99	98			NA	NA	19		NA											NA				21205649		2203	4300	6503	SO:0001583	missense			AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620	80264	80264		Zinc fingers, C2H2-type, -	20808	protein-coding gene	gene with protein product					NA		Standard	NM_025189	NM_025189	NA	Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.58G>A	19.37:g.21205649G>A	ENSP00000261560:p.Ala20Thr	NA	Q86V70	37	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	10.33	1.320681	0.23994	.	.	ENSG00000118620	ENST00000261560	T	0.04862	3.54	0.82	-0.347	0.12617	.	.	.	.	.	T	0.02156	0.0067	N	0.08118	0	0.09310	N	1	B;B	0.34103	0.32;0.437	B;B	0.27500	0.02;0.08	T	0.43410	-0.9393	9	0.11182	T	0.66	.	2.9792	0.05948	0.3723:0.0:0.6277:0.0	.	20;20	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	T	20	ENSP00000261560:A20T	ENSP00000261560:A20T	A	+	1	0	ZNF430	20997489	0.003000	0.15002	0.002000	0.10522	0.543000	0.35085	-1.040000	0.03546	-0.098000	0.12285	0.313000	0.20887	GCT	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463539.1		+	ENST00000261560.5	Missense_Mutation	SNP	19 : 21205649 - 21205649 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	562	24
ZNF184	7738	broad.mit.edu	37	6	27420622	27420622	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27420622C>T	ENST00000211936.6	-	6	1000	c.716G>A	c.(715-717)cGc>cAc	p.R239H	ZNF184_ENST00000377419.1_Missense_Mutation_p.R239H	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TCTCTGATGGCGAATAAGAGC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	143	142			NA	NA	6		NA											NA				27420622		2203	4300	6503	SO:0001583	missense			U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654	7738	7738		Zinc fingers, C2H2-type, -	12975	protein-coding gene	gene with protein product		602277	zinc finger protein 184 (Kruppel-like)		NA		Standard	NM_007149	NM_007149	NA	Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.716G>A	6.37:g.27420622C>T	ENSP00000211936:p.Arg239His	NA	B2R715|O60792|Q8TBA9	37	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	C	7.985	0.751986	0.15778	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.26810	1.71;1.71	5.12	2.22	0.28083	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.135982	0.34580	N	0.003854	T	0.05410	0.0143	L	0.58101	1.795	0.09310	N	1	P	0.36660	0.564	B	0.22152	0.038	T	0.23440	-1.0188	10	0.14252	T	0.57	.	3.5921	0.07993	0.163:0.433:0.3152:0.0888	.	239	Q99676	ZN184_HUMAN	H	239	ENSP00000211936:R239H;ENSP00000366636:R239H	ENSP00000211936:R239H	R	-	2	0	ZNF184	27528601	0.000000	0.05858	0.999000	0.59377	0.021000	0.10359	-1.898000	0.01602	1.366000	0.46076	-0.315000	0.08773	CGC	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040146.1		-	ENST00000211936.6	Missense_Mutation	SNP	6 : 27420622 - 27420622 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	985	186
PDE10A	10846	broad.mit.edu	37	6	165792768	165792768	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165792768C>A	ENST00000366882.1	-	19	2024	c.1870G>T	c.(1870-1872)Gac>Tac	p.D624Y	PDE10A_ENST00000354448.4_Missense_Mutation_p.D624Y|PDE10A_ENST00000539869.2_Missense_Mutation_p.D634Y			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	624					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	AAAGCAAGGTCTGTGGCAATG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(22;308 615 5753 12038 40624)							NA				0													146	137	140			NA	NA	6		NA											NA				165792768		2203	4300	6503	SO:0001583	missense			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	10846	10846	3.1.4.17	Phosphodiesterases	8772	protein-coding gene	gene with protein product		610652			NA	10373451	Standard		NM_001130690	NA	Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1870G>T	6.37:g.165792768C>A	ENSP00000355847:p.Asp624Tyr	NA	Q6FHX1|Q9HCP9|Q9NTV4|Q9Y5T1	37		.	.	.	.	.	.	.	.	.	.	C	29.3	4.991485	0.93106	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	D;D	0.90844	-2.74;-2.74	5.95	5.95	0.96441	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.96800	0.8955	M	0.93854	3.465	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96914	0.9669	10	0.87932	D	0	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	634;624	Q9ULW9;Q9Y233	.;PDE10_HUMAN	Y	624;652;634;624;623	ENSP00000355847:D624Y;ENSP00000346435:D624Y	ENSP00000341187:D634Y	D	-	1	0	PDE10A	165712758	1.000000	0.71417	0.020000	0.16555	0.990000	0.78478	7.207000	0.77899	2.824000	0.97209	0.655000	0.94253	GAC	PDE10A-001	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000043031.1		-	ENST00000366882.1	Missense_Mutation	SNP	6 : 165792768 - 165792768 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	642	118
NDST1	3340	broad.mit.edu	37	5	149927843	149927843	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149927843G>A	ENST00000523767.1	+	12	2734				NDST1_ENST00000261797.6_Missense_Mutation_p.G737S			P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	NA					heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATTACCGCCGGCTCTGACGC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	SER/GLY	0,4406		0,0,2203	90	62	71		2209	4	0	5		71	1,8599	1.2+/-3.3	0,1,4299	no	missense	NDST1	NM_001543.4	56	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	737/883	149927843	1,13005	2203	4300	6503	SO:0001627	intron_variant			U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614	3340	3340		Sulfotransferases, membrane-bound	7680	protein-coding gene	gene with protein product		600853		HSST	NA	7601448, 9230113	Standard	NM_001543	NM_001543	NA	Approved	NST1	uc003lsk.4	P52848		ENST00000523767.1:c.2146-1397G>A	5.37:g.149927843G>A		NA	Q96E57	37		.	.	.	.	.	.	.	.	.	.	G	6.712	0.500001	0.12762	0.0	1.16E-4	ENSG00000070614	ENST00000261797	T	0.56103	0.48	4.91	4.04	0.47022	Sulfotransferase domain (1);	0.308220	0.39615	N	0.001304	T	0.29389	0.0732	N	0.16016	0.355	0.58432	D	0.999998	B	0.27264	0.173	B	0.18561	0.022	T	0.16778	-1.0391	10	0.02654	T	1	.	13.2775	0.60196	0.0763:0.0:0.9237:0.0	.	737	P52848	NDST1_HUMAN	S	737	ENSP00000261797:G737S	ENSP00000261797:G737S	G	+	1	0	NDST1	149908036	1.000000	0.71417	0.018000	0.16275	0.041000	0.13682	4.852000	0.62904	1.203000	0.43233	0.655000	0.94253	GGC	NDST1-001	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000374313.1		+	ENST00000523767.1	Intron	SNP	5 : 149927843 - 149927843 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	271	52
FMNL3	91010	broad.mit.edu	37	12	50055822	50055822	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50055822C>T	ENST00000335154.5	-	5	612	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	FMNL3_ENST00000550488.1_Missense_Mutation_p.E127K|FMNL3_ENST00000352151.5_Missense_Mutation_p.E127K|FMNL3_ENST00000293590.5_Missense_Mutation_p.E127K	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	127	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TTCAGAAATTCCCGCACCCAC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	90	90			NA	NA	12		NA											NA				50055822		1934	4137	6071	SO:0001583	missense			AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10					91010	91010			23698	protein-coding gene	gene with protein product					NA	12684686	Standard	NM_175736	NM_198900	NA	Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000335154.5:c.379G>A	12.37:g.50055822C>T	ENSP00000335655:p.Glu127Lys	NA	B0JZA7|Q6ZRJ1	37	CCDS44874.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349590	0.82132	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39	4.41	4.41	0.53225	.	0.057003	0.64402	D	0.000002	D	0.93239	0.7846	M	0.68593	2.085	0.80722	D	1	D;B	0.67145	0.996;0.055	D;B	0.73708	0.981;0.034	D	0.93275	0.6655	10	0.51188	T	0.08	.	16.2917	0.82756	0.0:1.0:0.0:0.0	.	127;127	Q8IVF7-2;Q8IVF7-3	.;.	K	127	ENSP00000335655:E127K;ENSP00000447479:E127K;ENSP00000344311:E127K;ENSP00000293590:E127K	ENSP00000293590:E127K	E	-	1	0	FMNL3	48342089	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.587000	0.82613	2.460000	0.83146	0.462000	0.41574	GAA	FMNL3-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405275.1		-	ENST00000335154.5	Missense_Mutation	SNP	12 : 50055822 - 50055822 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	346	72
OSBPL6	114880	broad.mit.edu	37	2	179253867	179253867	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179253867T>C	ENST00000190611.4	+	21	2664	c.2288T>C	c.(2287-2289)cTc>cCc	p.L763P	OSBPL6_ENST00000359685.3_Missense_Mutation_p.L727P|OSBPL6_ENST00000409045.3_Missense_Mutation_p.L732P|OSBPL6_ENST00000315022.2_Missense_Mutation_p.L767P|OSBPL6_ENST00000392505.2_Missense_Mutation_p.L788P|OSBPL6_ENST00000409631.1_Missense_Mutation_p.L727P	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	763					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			ATTTGCAAACTCACATTTGTC	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	82	87			NA	NA	2		NA											NA				179253867		2203	4300	6503	SO:0001583	missense			AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156	114880	114880		Oxysterol binding proteins	16388	protein-coding gene	gene with protein product	OSBP-related protein 6	606734			NA	11483621	Standard	NM_032523	NM_001201480	NA	Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.2288T>C	2.37:g.179253867T>C	ENSP00000190611:p.Leu763Pro	NA	B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q8N9T0|Q96SR1	37	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.577262	0.86645	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12;1.12	5.65	5.65	0.86999	.	0.059218	0.64402	D	0.000001	T	0.72867	0.3514	M	0.93720	3.45	0.80722	D	1	D;D;D;D;D	0.76494	0.966;0.992;0.966;0.999;0.992	P;D;P;D;D	0.69479	0.894;0.921;0.894;0.964;0.915	T	0.81095	-0.1088	10	0.87932	D	0	-11.915	16.1778	0.81874	0.0:0.0:0.0:1.0	.	732;767;727;788;763	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3	.;.;.;.;OSBL6_HUMAN	P	788;727;732;763;727;767	ENSP00000376293:L788P;ENSP00000352713:L727P;ENSP00000387248:L732P;ENSP00000190611:L763P;ENSP00000386885:L727P;ENSP00000318723:L767P	ENSP00000190611:L763P	L	+	2	0	OSBPL6	178962113	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	2.279000	0.76181	0.533000	0.62120	CTC	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334393.2		+	ENST00000190611.4	Missense_Mutation	SNP	2 : 179253867 - 179253867 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	223	68
SLC5A5	6528	broad.mit.edu	37	19	17991703	17991703	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17991703C>T	ENST00000222248.3	+	8	1346	c.999C>T	c.(997-999)ttC>ttT	p.F333F		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	333					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	p.F333F(2)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGGACATCTTCGAAGATCTGC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(65;1008 1708 7910 46650)							NA				2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)											121	102	109			NA	NA	19		NA											NA				17991703		2203	4300	6503	SO:0001819	synonymous_variant				CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641	6528	6528		Solute carriers	11040	protein-coding gene	gene with protein product		601843	solute carrier family 5 (sodium iodide symporter), member 5		NA	9231811	Standard		NM_000453	NA	Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.999C>T	19.37:g.17991703C>T		NA	O43702|Q2M335|Q9NYB6	37	CCDS12368.1																																																																																			SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466690.1		+	ENST00000222248.3	Silent	SNP	19 : 17991703 - 17991703 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	413	85
NNT	23530	broad.mit.edu	37	5	43651986	43651986	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43651986G>T	ENST00000264663.5	+	13	2084	c.1863G>T	c.(1861-1863)caG>caT	p.Q621H	NNT_ENST00000344920.4_Splice_Site_p.Q621H|NNT_ENST00000512996.2_Splice_Site_p.Q490H	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	621					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	ACATTGAACAGGTAAGATGCT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	133	131			NA	NA	5		NA											NA				43651986		2203	4300	6503	SO:0001630	splice_region_variant			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	23530	23530	1.6.1.1		7863	protein-coding gene	gene with protein product		607878			NA	9271681, 9524818	Standard	NM_182977	NM_182977	NA	Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.1863+1G>T	5.37:g.43651986G>T		NA	Q16796|Q2TB60|Q8N3V4	37	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.716944	0.68844	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.91843	-2.92;-2.92;-2.92	5.64	2.03	0.26663	.	0.049448	0.85682	D	0.000000	D	0.94272	0.8160	M	0.82630	2.6	0.80722	D	1	P	0.37441	0.595	P	0.53360	0.724	D	0.92446	0.5966	10	0.59425	D	0.04	-7.8661	7.8211	0.29288	0.4948:0.0:0.5052:0.0	.	621	Q13423	NNTM_HUMAN	H	136;621;621;490	ENSP00000264663:Q621H;ENSP00000343873:Q621H;ENSP00000426343:Q490H	ENSP00000264663:Q621H	Q	+	3	2	NNT	43687743	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.093000	0.50217	0.436000	0.26393	-0.302000	0.09304	CAG	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214026.1	Missense_Mutation	+	ENST00000264663.5	Splice_Site	SNP	5 : 43651986 - 43651986 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	840	135
WDR48	57599	broad.mit.edu	37	3	39126162	39126162	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39126162T>G	ENST00000302313.5	+	13	1336	c.1308T>G	c.(1306-1308)agT>agG	p.S436R	WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.S354R|WDR48_ENST00000544962.1_Missense_Mutation_p.S161R	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	436					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGGATGAAAGTGATTGTTTTG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	91	91			NA	NA	3		NA											NA				39126162		2203	4300	6503	SO:0001583	missense			AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742	57599	57599		WD repeat domain containing	30914	protein-coding gene	gene with protein product		612167			NA	10819331, 12196293, 24482476	Standard	NM_020839	NM_020839	NA	Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.1308T>G	3.37:g.39126162T>G	ENSP00000307491:p.Ser436Arg	NA	B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	37	CCDS33738.1	.	.	.	.	.	.	.	.	.	.	T	18.95	3.731475	0.69189	.	.	ENSG00000114742	ENST00000302313;ENST00000544962;ENST00000396258	T;D;T	0.89343	1.07;-2.5;0.79	5.61	0.0116	0.14088	.	0.040621	0.85682	D	0.000000	D	0.86920	0.6049	L	0.44542	1.39	0.80722	D	1	B;B;D;P	0.54964	0.062;0.205;0.969;0.946	B;B;P;P	0.55455	0.052;0.193;0.668;0.776	T	0.81437	-0.0933	10	0.16420	T	0.52	-12.911	10.3654	0.44021	0.0:0.3182:0.0:0.6818	.	161;354;427;436	Q8TAF3-5;Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;.;WDR48_HUMAN	R	436;161;354	ENSP00000307491:S436R;ENSP00000445187:S161R;ENSP00000379557:S354R	ENSP00000307491:S436R	S	+	3	2	WDR48	39101166	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	0.315000	0.19451	0.126000	0.18424	0.533000	0.62120	AGT	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342529.1		+	ENST00000302313.5	Missense_Mutation	SNP	3 : 39126162 - 39126162 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	80
TRAK1	22906	broad.mit.edu	37	3	42244300	42244300	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42244300C>T	ENST00000449246.1	+	12	1879	c.1578C>T	c.(1576-1578)tcC>tcT	p.S526S	TRAK1_ENST00000341421.3_Intron|TRAK1_ENST00000487159.1_Intron|TRAK1_ENST00000327628.5_Intron|TRAK1_ENST00000396175.1_Intron	NM_001265609.1|NM_001265610.1	NP_001252538.1|NP_001252539.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	0					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CCCTTTGGTCCCTGATCCACC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(44;195 884 22595 31865 41850)							NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001819	synonymous_variant				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606	22906	22906			29947	protein-coding gene	gene with protein product	OGT(O Glc NAc transferase) interacting protein 106 KDa, O-linked N-acetylglucosamine transferase interacting protein 106, milton homolog 1 (Drosophila)	608112			NA	10470851, 12435728, 16380713, 20230862	Standard	NM_014965	NM_014965	NA	Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000449246.1:c.1578C>T	3.37:g.42244300C>T		NA	Q63HR0|Q96B69	37	CCDS58826.1																																																																																			TRAK1-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343383.1		+	ENST00000449246.1	Silent	SNP	3 : 42244300 - 42244300 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	160	36
MLIP	90523	broad.mit.edu	37	6	53989480	53989480	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:53989480C>T	ENST00000514921.1	+	3	542	c.429C>T	c.(427-429)agC>agT	p.S143S	MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000509997.1_Silent_p.S91S|MLIP_ENST00000370876.2_Silent_p.S81S|MLIP_ENST00000502396.1_Silent_p.S154S|MLIP_ENST00000274897.5_Silent_p.S143S|MLIP_ENST00000370877.2_Silent_p.S91S|MLIP_ENST00000358276.5_Silent_p.S137S	NM_001281746.1	NP_001268675.1	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	143						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						AGGCTGCAAGCAGAAAAGTTG	0.517		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	6		NA											NA				53989480		2203	4300	6503	SO:0001819	synonymous_variant			AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147	90523	90523			21355	protein-coding gene	gene with protein product	muscle-enriched A-type lamin interacting protein	614106	chromosome 6 open reading frame 142	C6orf142	NA	21498514	Standard	NM_138569	NM_138569	NA	Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000514921.1:c.429C>T	6.37:g.53989480C>T		NA	B7Z2N0|Q96H08|Q96NF7	37																																																																																				MLIP-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000360019.1		+	ENST00000514921.1	Silent	SNP	6 : 53989480 - 53989480 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	628	97
MACROD2	140733	broad.mit.edu	37	20	14474150	14474150	+	Silent	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:14474150A>T	ENST00000217246.4	+	4	692	c.297A>T	c.(295-297)ggA>ggT	p.G99G	MACROD2_ENST00000310348.4_Silent_p.G99G	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	99	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TTGGAGGAGGAGGTGGTAAGT	0.279		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	115	117			NA	NA	20		NA											NA				14474150		1811	4066	5877	SO:0001819	synonymous_variant			BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264	140733	140733			16126	protein-coding gene	gene with protein product		611567	chromosome 20 open reading frame 133	C20orf133	NA		Standard	NM_080676	NM_080676	NA	Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000217246.4:c.297A>T	20.37:g.14474150A>T		NA	A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	37	CCDS13120.2																																																																																			MACROD2-010	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195553.3		+	ENST00000217246.4	Silent	SNP	20 : 14474150 - 14474150 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	438	35
OSBP2	23762	broad.mit.edu	37	22	31289171	31289171	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31289171G>A	ENST00000332585.6	+	9	2036	c.1932G>A	c.(1930-1932)tgG>tgA	p.W644*	OSBP2_ENST00000496575.1_Intron|OSBP2_ENST00000407373.1_Nonsense_Mutation_p.W471*|OSBP2_ENST00000382310.3_Nonsense_Mutation_p.W595*|OSBP2_ENST00000437268.2_Nonsense_Mutation_p.W386*|OSBP2_ENST00000535268.1_Nonsense_Mutation_p.W188*|OSBP2_ENST00000446658.2_Nonsense_Mutation_p.W643*|OSBP2_ENST00000403222.3_Nonsense_Mutation_p.W478*|OSBP2_ENST00000401475.1_Nonsense_Mutation_p.W277*	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	644					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GGAGCCTCTGGCAGGAGATCA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	44	42			NA	NA	22		NA											NA				31289171		2040	4203	6243	SO:0001587	stop_gained				CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792	23762	23762		Oxysterol binding proteins, Pleckstrin homology (PH) domain containing	8504	protein-coding gene	gene with protein product		606729		OSBPL1	NA	10591208, 11278871, 11802775	Standard	NM_030758	NM_001282738	NA	Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.1932G>A	22.37:g.31289171G>A	ENSP00000332576:p.Trp644*	NA	B0QYG1|O60396|Q9BY96|Q9BZF0	37	CCDS43002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.657238|6.657238	0.97739|0.97739	.|.	.|.	ENSG00000184792|ENSG00000184792	ENST00000431368|ENST00000403222;ENST00000407373;ENST00000332585;ENST00000382310;ENST00000446658;ENST00000401475;ENST00000437268;ENST00000535268;ENST00000452656	.|.	.|.	.|.	4.66|4.66	4.66|4.66	0.58398|0.58398	.|.	.|0.055783	.|0.85682	.|D	.|0.000000	T|.	0.45377|.	0.1339|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.33266|.	-0.9875|.	4|.	.|0.02654	.|T	.|1	-11.9824|-11.9824	17.6971|17.6971	0.88285|0.88285	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	D|X	316|478;471;644;595;643;277;386;188;275	.|.	.|ENSP00000332576:W644X	G|W	+|+	2|3	0|0	OSBP2|OSBP2	29619171|29619171	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	6.443000|6.443000	0.73447|0.73447	2.574000|2.574000	0.86865|0.86865	0.650000|0.650000	0.86243|0.86243	GGC|TGG	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321547.2		+	ENST00000332585.6	Nonsense_Mutation	SNP	22 : 31289171 - 31289171 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	248	47
SLC39A13	91252	broad.mit.edu	37	11	47434981	47434981	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47434981G>A	ENST00000533076.1	+	5	978	c.568G>A	c.(568-570)Gcc>Acc	p.A190T	SLC39A13_ENST00000354884.4_Missense_Mutation_p.A190T|SLC39A13_ENST00000529740.1_3'UTR|SLC39A13_ENST00000362021.4_Missense_Mutation_p.A190T|SLC39A13_ENST00000524928.1_Missense_Mutation_p.A190T			Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter), member 13	190	Poly-Ala.				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|kidney(1)|lung(1)|prostate(1)	4				Lung(87;0.0936)		TGCTGCTGCCGCCGCGCTCAA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	33	32			NA	NA	11		NA											NA				47434981		2201	4298	6499	SO:0001583	missense				CCDS7934.1, CCDS44592.1	11p11.2	2013-05-22			ENSG00000165915	ENSG00000165915	91252	91252		Solute carriers	20859	protein-coding gene	gene with protein product		608735	solute carrier family 39 (metal ion transporter), member 13		NA	12659941	Standard	NM_152264	NM_001128225	NA	Approved	FLJ25785	uc009ylq.3	Q96H72	OTTHUMG00000166890	ENST00000533076.1:c.568G>A	11.37:g.47434981G>A	ENSP00000434290:p.Ala190Thr	NA	D3DQR6|D3DQR7|Q659D9|Q8N7C9|Q8WV10	37		.	.	.	.	.	.	.	.	.	.	G	4.021	0.001430	0.07819	.	.	ENSG00000165915	ENST00000533076;ENST00000362021;ENST00000354884;ENST00000526614;ENST00000524928	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	4.93	1.96	0.26148	.	2.703060	0.00757	N	0.001107	T	0.29524	0.0736	N	0.25332	0.735	0.09310	N	1	B;B;P	0.34724	0.012;0.012;0.465	B;B;B	0.25405	0.02;0.002;0.06	T	0.12553	-1.0543	10	0.14252	T	0.57	-17.1502	3.3102	0.07014	0.0975:0.1991:0.5393:0.164	.	190;190;190	Q96H72;Q96H72-2;E9PNE7	S39AD_HUMAN;.;.	T	190	ENSP00000434290:A190T;ENSP00000354689:A190T;ENSP00000346956:A190T;ENSP00000432499:A190T;ENSP00000437186:A190T	ENSP00000346956:A190T	A	+	1	0	SLC39A13	47391557	0.042000	0.20092	0.004000	0.12327	0.034000	0.12701	1.262000	0.32992	0.121000	0.18284	0.455000	0.32223	GCC	SLC39A13-001	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000391723.2		+	ENST00000533076.1	Missense_Mutation	SNP	11 : 47434981 - 47434981 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	407	75
KIRREL2	84063	broad.mit.edu	37	19	36351456	36351456	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36351456G>A	ENST00000360202.5	+	7	1013	c.815G>A	c.(814-816)cGc>cAc	p.R272H	KIRREL2_ENST00000262625.7_Missense_Mutation_p.R272H|KIRREL2_ENST00000347900.6_Missense_Mutation_p.R222H|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.R272H	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	272	Ig-like C2-type 3.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCGGGGCCCGCGGGCCAAGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	52	50			NA	NA	19		NA											NA				36351456		2203	4300	6503	SO:0001583	missense			AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259	84063	84063		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	18816	protein-coding gene	gene with protein product		607762			NA	12837264, 12504092	Standard	NM_032123	NM_199180	NA	Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.815G>A	19.37:g.36351456G>A	ENSP00000353331:p.Arg272His	NA	C9JHF1|C9JJ76|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	37	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	g	17.73	3.462092	0.63513	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658	T;T;T	0.68903	-0.36;-0.14;-0.34	3.99	3.99	0.46301	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.180262	0.27084	N	0.021010	T	0.59985	0.2234	N	0.17872	0.535	0.31437	N	0.672468	D;D;D;D;D	0.67145	0.983;0.979;0.992;0.996;0.996	P;P;P;P;P	0.59643	0.685;0.557;0.861;0.855;0.855	T	0.55062	-0.8199	10	0.06494	T	0.89	-10.5667	11.8642	0.52484	0.0:0.0:1.0:0.0	.	272;252;272;222;272	F1T0I2;Q6UWL6-4;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;.;KIRR2_HUMAN;.;.	H	272;222;272;252	ENSP00000262625:R272H;ENSP00000345067:R222H;ENSP00000353331:R272H	ENSP00000262625:R272H	R	+	2	0	KIRREL2	41043296	0.990000	0.36364	1.000000	0.80357	0.993000	0.82548	2.235000	0.43044	2.257000	0.74773	0.444000	0.29173	CGC	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452561.1		+	ENST00000360202.5	Missense_Mutation	SNP	19 : 36351456 - 36351456 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	461	119
INSR	3643	broad.mit.edu	37	19	7172365	7172365	+	Missense_Mutation	SNP	C	C	T	rs144929085		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7172365C>T	ENST00000341500.5	-	5	1243	c.1204G>A	c.(1204-1206)Gct>Act	p.A402T	INSR_ENST00000302850.5_Missense_Mutation_p.A402T	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	402					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GACACCAGAGCGTAGGATCGG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	127	132			NA	NA	19		NA											NA				7172365		2203	4300	6503	SO:0001583	missense			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105	NA	3643		CD molecules, Fibronectin type III domain containing	6091	protein-coding gene	gene with protein product		147670			NA	2983222	Standard		NM_000208	NA	Approved	CD220	uc002mgd.1	P06213		ENST00000341500.5:c.1204G>A	19.37:g.7172365C>T	ENSP00000342838:p.Ala402Thr	NA	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	37	CCDS42487.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550778	0.86127	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.82984	-1.67;-1.67	4.94	4.94	0.65067	EGF receptor, L domain (1);	0.000000	0.45867	D	0.000338	T	0.81588	0.4854	L	0.60957	1.885	0.80722	D	1	D;D;D	0.57899	0.981;0.972;0.961	B;B;B	0.43889	0.381;0.4;0.435	T	0.83015	-0.0170	10	0.44086	T	0.13	.	15.6761	0.77326	0.0:1.0:0.0:0.0	.	393;402;402	Q86WY9;P06213-2;P06213	.;.;INSR_HUMAN	T	402	ENSP00000303830:A402T;ENSP00000342838:A402T	ENSP00000303830:A402T	A	-	1	0	INSR	7123365	1.000000	0.71417	0.792000	0.32020	0.763000	0.43281	7.459000	0.80802	2.294000	0.77228	0.561000	0.74099	GCT	INSR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458543.1		-	ENST00000341500.5	Missense_Mutation	SNP	19 : 7172365 - 7172365 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	585	124
MDH1B	130752	broad.mit.edu	37	2	207620181	207620181	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207620181G>A	ENST00000449792.1	-	4	403	c.168C>T	c.(166-168)ggC>ggT	p.G56G	MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000374412.3_Silent_p.G154G|MDH1B_ENST00000454776.2_Silent_p.G154G			Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	154					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CAAACACTTCGCCACTCGTCA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(76;29 1355 28675 37177 51207)							NA				0													82	75	77			NA	NA	2		NA											NA				207620181		2203	4300	6503	SO:0001819	synonymous_variant				CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400	130752	130752			17836	protein-coding gene	gene with protein product					NA		Standard	NM_001039845	NM_001039845	NA	Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000449792.1:c.168C>T	2.37:g.207620181G>A		NA	A8K8M1|Q53TK9|Q8IV51	37																																																																																				MDH1B-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000336795.2		-	ENST00000449792.1	Silent	SNP	2 : 207620181 - 207620181 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	375	47
CSNK1A1L	122011	broad.mit.edu	37	13	37679424	37679424	+	Translation_Start_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37679424G>T	ENST00000379800.3	-	0	379					NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	NA					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GCTGGGCTCAGCCCTGACCCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	46	47			NA	NA	13		NA											NA				37679424		2203	4300	6503					BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138	122011	122011			20289	protein-coding gene	gene with protein product					NA		Standard	NM_145203	NM_145203	NA	Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.-31C>A	13.37:g.37679424G>T		NA	Q5T2N2	37	CCDS9363.1																																																																																			CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044563.1		-	ENST00000379800.3	De_novo_Start_OutOfFrame	SNP	13 : 37679424 - 37679424 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	249	29
PRMT3	10196	broad.mit.edu	37	11	20417453	20417453	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20417453G>A	ENST00000331079.6	+	6	722	c.505G>A	c.(505-507)Gca>Aca	p.A169T	PRMT3_ENST00000437750.2_Missense_Mutation_p.A107T	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	169							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						GGAAGCCAGGGCACTGTCTGC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	77	78			NA	NA	11		NA											NA				20417453		2203	4300	6503	SO:0001583	missense			AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238	10196	10196		Protein arginine methyltransferases	30163	protein-coding gene	gene with protein product		603190	HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)	HRMT1L3	NA	9642256	Standard	NM_005788	NM_005788	NA	Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.505G>A	11.37:g.20417453G>A	ENSP00000331879:p.Ala169Thr	NA	B4DUC7	37	CCDS7853.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372320	0.82573	.	.	ENSG00000185238	ENST00000331079;ENST00000541255;ENST00000437750	T;T	0.26810	1.71;1.71	5.62	5.62	0.85841	.	0.045693	0.85682	D	0.000000	T	0.43634	0.1256	M	0.61703	1.905	0.58432	D	0.999999	P;D	0.69078	0.887;0.997	P;P	0.58210	0.69;0.835	T	0.06807	-1.0806	10	0.16896	T	0.51	-19.0595	19.6155	0.95632	0.0:0.0:1.0:0.0	.	107;169	O60678-2;O60678	.;ANM3_HUMAN	T	169;169;107	ENSP00000331879:A169T;ENSP00000397766:A107T	ENSP00000331879:A169T	A	+	1	0	PRMT3	20374029	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.473000	0.81007	2.801000	0.96364	0.650000	0.86243	GCA	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387489.1		+	ENST00000331079.6	Missense_Mutation	SNP	11 : 20417453 - 20417453 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	412	74
EPHX4	253152	broad.mit.edu	37	1	92518101	92518101	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92518101G>T	ENST00000370383.4	+	6	841	c.743G>T	c.(742-744)gGc>gTc	p.G248V		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	248						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						CACAGCACTGGCATTGGAAGA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(140;473 1857 5172 22066 49719)							NA				0													72	67	69			NA	NA	1		NA											NA				92518101		2203	4300	6503	SO:0001583	missense			AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031	253152	253152		Abhydrolase domain containing	23758	protein-coding gene	gene with protein product			abhydrolase domain containing 7	ABHD7	NA	12477932	Standard	NM_173567	NM_173567	NA	Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.743G>T	1.37:g.92518101G>T	ENSP00000359410:p.Gly248Val	NA	Q8NCC6	37	CCDS736.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295042	0.81025	.	.	ENSG00000172031	ENST00000370383	T	0.03772	3.81	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.20129	0.0484	M	0.93283	3.4	0.80722	D	1	P	0.51933	0.949	P	0.58331	0.837	T	0.14117	-1.0484	10	0.59425	D	0.04	.	18.4188	0.90582	0.0:0.0:1.0:0.0	.	248	Q8IUS5	EPHX4_HUMAN	V	248	ENSP00000359410:G248V	ENSP00000359410:G248V	G	+	2	0	EPHX4	92290689	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.378000	0.97191	2.343000	0.79666	0.467000	0.42956	GGC	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000027985.1		+	ENST00000370383.4	Missense_Mutation	SNP	1 : 92518101 - 92518101 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	144	10
GUCY2C	2984	broad.mit.edu	37	12	14781607	14781607	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:14781607A>T	ENST00000261170.3	-	20	2358	c.2222T>A	c.(2221-2223)aTt>aAt	p.I741N		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	741	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TGTAGTCTCAATTTTTTTGAA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	150	146			NA	NA	12		NA											NA				14781607		2202	4299	6501	SO:0001583	missense				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019	2984	2984			4688	protein-coding gene	gene with protein product		601330		GUC2C	NA	8661067	Standard		NM_004963	NA	Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.2222T>A	12.37:g.14781607A>T	ENSP00000261170:p.Ile741Asn	NA	B2RMY6	37	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.107079	0.77096	.	.	ENSG00000070019	ENST00000261170	D	0.85339	-1.97	4.49	4.49	0.54785	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.047168	0.85682	D	0.000000	D	0.93517	0.7931	M	0.93638	3.44	0.80722	D	1	D	0.58970	0.984	D	0.65233	0.933	D	0.95088	0.8219	10	0.87932	D	0	.	14.0963	0.65023	1.0:0.0:0.0:0.0	.	741	P25092	GUC2C_HUMAN	N	741	ENSP00000261170:I741N	ENSP00000261170:I741N	I	-	2	0	GUCY2C	14672874	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.969000	0.93411	1.797000	0.52628	0.533000	0.62120	ATT	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400835.1		-	ENST00000261170.3	Missense_Mutation	SNP	12 : 14781607 - 14781607 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	676	129
HRC	3270	broad.mit.edu	37	19	49658323	49658323	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49658323G>A	ENST00000252825.4	-	1	358	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C	HRC_ENST00000595625.1_Missense_Mutation_p.R58C	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	58					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		AGGTGGTGGCGAAGCTCTGCT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(37;75 1097 24567 25669 30645)							NA				0													193	164	174			NA	NA	19		NA											NA				49658323		2203	4300	6503	SO:0001583	missense				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528	3270	3270			5178	protein-coding gene	gene with protein product		142705	histidine-rich calcium-binding protein		NA	2037293	Standard	NM_002152	XR_243928	NA	Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.172C>T	19.37:g.49658323G>A	ENSP00000252825:p.Arg58Cys	NA	Q504Y6	37	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	g	11.37	1.619296	0.28801	.	.	ENSG00000130528	ENST00000252825	T	0.07114	3.22	3.26	-0.0384	0.13880	.	.	.	.	.	T	0.04634	0.0126	N	0.14661	0.345	0.09310	N	1	B	0.16603	0.018	B	0.04013	0.001	T	0.38824	-0.9643	9	0.72032	D	0.01	-1.5384	4.9026	0.13782	0.0:0.604:0.1801:0.2159	.	58	P23327	SRCH_HUMAN	C	58	ENSP00000252825:R58C	ENSP00000252825:R58C	R	-	1	0	HRC	54350135	0.001000	0.12720	0.000000	0.03702	0.012000	0.07955	0.539000	0.23175	0.070000	0.16634	-0.220000	0.12472	CGC	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465649.1		-	ENST00000252825.4	Missense_Mutation	SNP	19 : 49658323 - 49658323 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	694	121
ALAS1	211	broad.mit.edu	37	3	52239987	52239987	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52239987G>A	ENST00000394965.2	+	7	1293	c.933G>A	c.(931-933)tcG>tcA	p.S311S	ALAS1_ENST00000484952.1_Silent_p.S311S|ALAS1_ENST00000310271.2_Silent_p.S311S|ALAS1_ENST00000469224.1_Silent_p.S311S	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	311					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.S311S(1)		endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TGTTTTCCTCGTGCTTTGTGG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	ovary(1)											166	157	160			NA	NA	3		NA											NA				52239987		2203	4300	6503	SO:0001819	synonymous_variant			X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	211	211	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS	NA		Standard		NM_000688	NA	Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.933G>A	3.37:g.52239987G>A		NA		37	CCDS2847.1																																																																																			ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350207.1		+	ENST00000394965.2	Silent	SNP	3 : 52239987 - 52239987 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	503	125
ZNF318	24149	broad.mit.edu	37	6	43305786	43305786	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43305786C>T	ENST00000361428.2	-	10	6027	c.5950G>A	c.(5950-5952)Gat>Aat	p.D1984N	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1984					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GGATGGACATCTTGTAGCTCC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	123	124			NA	NA	6		NA											NA				43305786		2203	4300	6503	SO:0001583	missense			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467	24149	24149		Zinc fingers, C2H2-type	13578	protein-coding gene	gene with protein product					NA	10873617	Standard	NM_014345	NM_014345	NA	Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.5950G>A	6.37:g.43305786C>T	ENSP00000354964:p.Asp1984Asn	NA	O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	37	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	5.299	0.240561	0.10023	.	.	ENSG00000171467	ENST00000361428	T	0.12255	2.7	6.08	2.36	0.29203	.	0.778709	0.11980	N	0.510918	T	0.03390	0.0098	L	0.27053	0.805	0.09310	N	1	B	0.34015	0.435	B	0.33620	0.167	T	0.39722	-0.9600	10	0.46703	T	0.11	-1.15	8.5349	0.33357	0.0:0.6238:0.0:0.3762	.	1984	Q5VUA4	ZN318_HUMAN	N	1984	ENSP00000354964:D1984N	ENSP00000354964:D1984N	D	-	1	0	ZNF318	43413764	0.000000	0.05858	0.008000	0.14137	0.249000	0.25844	-0.323000	0.07997	0.471000	0.27319	0.655000	0.94253	GAT	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040601.2		-	ENST00000361428.2	Missense_Mutation	SNP	6 : 43305786 - 43305786 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	543	105
CHRM2	1129	broad.mit.edu	37	7	136700166	136700166	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:136700166C>A	ENST00000445907.2	+	3	1082	c.554C>A	c.(553-555)gCt>gAt	p.A185D	hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.A185D|CHRM2_ENST00000402486.3_Missense_Mutation_p.A185D|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.A185D|CHRM2_ENST00000453373.1_Missense_Mutation_p.A185D|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.A185D|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000598184.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	185					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TCCAATGCTGCTGTCACCTTT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	89	93			NA	NA	7		NA											NA				136700166		2203	4300	6503	SO:0001583	missense				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072	1129	1129		Cholinergic receptors, GPCR / Class A : Cholinergic receptors, muscarinic	1951	protein-coding gene	gene with protein product	acetylcholine receptor, muscarinic 2	118493			NA		Standard		NM_000739	NA	Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.554C>A	7.37:g.136700166C>A	ENSP00000399745:p.Ala185Asp	NA	Q4VBK6|Q9P1X9	37	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495260	0.64186	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08	5.51	5.51	0.81932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.63604	0.2525	M	0.72118	2.19	0.80722	D	1	D	0.63046	0.992	D	0.66497	0.944	T	0.59220	-0.7495	10	0.32370	T	0.25	-22.3117	19.4315	0.94772	0.0:1.0:0.0:0.0	.	185	P08172	ACM2_HUMAN	D	185	ENSP00000399745:A185D;ENSP00000415386:A185D;ENSP00000319984:A185D;ENSP00000380733:A185D;ENSP00000384937:A185D;ENSP00000384401:A185D	ENSP00000319984:A185D	A	+	2	0	CHRM2	136350706	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.600000	0.87896	0.655000	0.94253	GCT	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341010.1		+	ENST00000445907.2	Missense_Mutation	SNP	7 : 136700166 - 136700166 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	519	90
RGR	5995	broad.mit.edu	37	10	86012754	86012754	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:86012754C>A	ENST00000359452.4	+	4	550	c.512C>A	c.(511-513)tCc>tAc	p.S171Y	RGR_ENST00000358110.5_Missense_Mutation_p.S167Y	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	167					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CTGGACTACTCCAAGGGGGAC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(15;204 545 5889 6385 32445)							NA				0													59	46	50			NA	NA	10		NA											NA				86012754		2203	4300	6503	SO:0001583	missense			BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604	5995	5995		GPCR / Class A : Opsin receptors	9990	protein-coding gene	gene with protein product	RGR-opsin	600342			NA	8641686	Standard	NM_002921	NM_002921	NA	Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000359452.4:c.512C>A	10.37:g.86012754C>A	ENSP00000352427:p.Ser171Tyr	NA	A6NKK7|Q96FC5	37	CCDS7374.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452780	0.63290	.	.	ENSG00000148604	ENST00000359452;ENST00000358110	T;T	0.37235	1.21;1.21	4.92	3.93	0.45458	GPCR, rhodopsin-like superfamily (1);	0.175561	0.64402	D	0.000013	T	0.52208	0.1720	L	0.56769	1.78	0.49213	D	0.999762	D;D;B	0.89917	0.96;1.0;0.051	P;D;B	0.70935	0.6;0.971;0.102	T	0.44019	-0.9355	10	0.36615	T	0.2	.	13.1354	0.59405	0.0:0.7335:0.2664:0.0	.	167;171;167	P47804-3;P47804-2;P47804	.;.;RGR_HUMAN	Y	171;167	ENSP00000352427:S171Y;ENSP00000350823:S167Y	ENSP00000350823:S167Y	S	+	2	0	RGR	86002734	0.997000	0.39634	0.990000	0.47175	0.971000	0.66376	1.366000	0.34193	2.667000	0.90743	0.655000	0.94253	TCC	RGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049116.1		+	ENST00000359452.4	Missense_Mutation	SNP	10 : 86012754 - 86012754 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	240	48
FUT4	2526	broad.mit.edu	37	11	94278557	94278557	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94278557G>T	ENST00000358752.2	+	1	1541	c.1258G>T	c.(1258-1260)Gat>Tat	p.D420Y	RP11-867G2.8_ENST00000536540.1_RNA	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	420					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCAGCACCTGGATTATATCAC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	34	35			NA	NA	11		NA											NA				94278557		2201	4297	6498	SO:0001583	missense				CCDS8301.1	11q21	2013-02-26			ENSG00000196371	ENSG00000196371	2526	2526		CD molecules, Fucosyltransferases	4015	protein-coding gene	gene with protein product	ELAM ligand fucosyltransferase, galactoside 3-L-fucosyltransferase	104230		CD15, FCT3A, ELFT	NA	1702034	Standard	NM_002033	NM_002033	NA	Approved	FUC-TIV	uc001pez.3	P22083	OTTHUMG00000167795	ENST00000358752.2:c.1258G>T	11.37:g.94278557G>T	ENSP00000351602:p.Asp420Tyr	NA	B2RMS0	37	CCDS8301.1	.	.	.	.	.	.	.	.	.	.	g	25.6	4.650391	0.87958	.	.	ENSG00000196371	ENST00000358752	T	0.69926	-0.44	4.74	4.74	0.60224	.	0.000000	0.85682	U	0.000000	D	0.85708	0.5759	M	0.94101	3.495	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.89439	0.3722	10	0.87932	D	0	.	14.5742	0.68235	0.0:0.0:0.8535:0.1465	.	420	P22083	FUT4_HUMAN	Y	420	ENSP00000351602:D420Y	ENSP00000351602:D420Y	D	+	1	0	FUT4	93918205	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.770000	0.85390	2.339000	0.79563	0.561000	0.74099	GAT	FUT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396327.2		+	ENST00000358752.2	Missense_Mutation	SNP	11 : 94278557 - 94278557 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	55
RORC	6097	broad.mit.edu	37	1	151785743	151785743	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151785743G>A	ENST00000356728.6	-	7	1237	c.1083C>T	c.(1081-1083)taC>taT	p.Y361Y	RORC_ENST00000392697.3_Silent_p.Y436Y|RORC_ENST00000480719.1_5'UTR|RORC_ENST00000318247.6_Silent_p.Y382Y	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	RAR-related orphan receptor C	382	Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCATGCCACCGTATTTGCCTT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													234	235	234			NA	NA	1		NA											NA				151785743		2203	4300	6503	SO:0001819	synonymous_variant			U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365	NA	6097		Nuclear hormone receptors	10260	protein-coding gene	gene with protein product		602943			NA	7811290	Standard		NM_005060	NA	Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000356728.6:c.1083C>T	1.37:g.151785743G>A		NA	Q5SZR9|Q8N5V7|Q8NCY8	37	CCDS30856.1																																																																																			RORC-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000036627.1		-	ENST00000356728.6	Silent	SNP	1 : 151785743 - 151785743 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1726	67
SF3A2	8175	broad.mit.edu	37	19	2247848	2247848	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2247848C>A	ENST00000221494.5	+	9	1116	c.698C>A	c.(697-699)cCt>cAt	p.P233H		NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	NA	Pro-rich.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGAAGCGGCCTCCACCCCCG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			L21990	CCDS12084.1	19p13.3	2012-10-02	2002-08-29		ENSG00000104897	ENSG00000104897	8175	8175			10766	protein-coding gene	gene with protein product		600796	splicing factor 3a, subunit 2, 66kD		NA	8211113, 8541848	Standard		NM_007165	NA	Approved	SF3a66, SAP62, PRPF11, Prp11	uc002lvg.3	Q15428	OTTHUMG00000180414	ENST00000221494.5:c.698C>A	19.37:g.2247848C>A	ENSP00000221494:p.Pro233His	NA	B2RBU1|D6W605|O75245	37	CCDS12084.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724207	0.68959	.	.	ENSG00000104897	ENST00000221494	T	0.49720	0.77	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.58104	0.2099	L	0.34521	1.04	0.58432	D	0.999996	D	0.89917	1.0	D	0.73380	0.98	T	0.61821	-0.6984	10	0.59425	D	0.04	-13.467	16.1438	0.81548	0.0:1.0:0.0:0.0	.	233	Q15428	SF3A2_HUMAN	H	233	ENSP00000221494:P233H	ENSP00000221494:P233H	P	+	2	0	SF3A2	2198848	0.996000	0.38824	0.997000	0.53966	0.769000	0.43574	4.243000	0.58721	2.145000	0.66743	0.462000	0.41574	CCT	SF3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451268.3		+	ENST00000221494.5	Missense_Mutation	SNP	19 : 2247848 - 2247848 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	43
SCN1A	6323	broad.mit.edu	37	2	166859067	166859067	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166859067A>G	ENST00000409050.1	-	21	4114	c.4115T>C	c.(4114-4116)aTa>aCa	p.I1372T	SCN1A_ENST00000303395.4_Missense_Mutation_p.I1400T|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.I1400T|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.I1389T			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1400						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ATTTCTTTCTATTAGTTTTAG	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	98	99			NA	NA	2		NA											NA				166859067		2203	4300	6503	SO:0001583	missense			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285	6323	6323		Sodium channels, Voltage-gated ion channels / Sodium channels	10585	protein-coding gene	gene with protein product		182389	febrile convulsions 3	SCN1, FEB3	NA	8062593, 16382098, 11823106	Standard	NM_006920	NM_006920	NA	Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000409050.1:c.4115T>C	2.37:g.166859067A>G	ENSP00000386312:p.Ile1372Thr	NA	Q16172|Q585T7|Q96LA3|Q9C008	37	CCDS54414.1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.138074	0.56936	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96136	-3.92;-3.92;-3.87;-3.85	5.54	5.54	0.83059	Ion transport (1);	0.149996	0.48767	D	0.000179	D	0.94666	0.8280	L	0.37800	1.135	0.42774	D	0.99384	D;B;B	0.58620	0.983;0.157;0.078	P;B;B	0.56042	0.79;0.042;0.089	D	0.93124	0.6527	10	0.21014	T	0.42	.	14.5302	0.67920	1.0:0.0:0.0:0.0	.	1389;1372;1400	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	T	1400;1400;1389;1372	ENSP00000407030:I1400T;ENSP00000303540:I1400T;ENSP00000364554:I1389T;ENSP00000386312:I1372T	ENSP00000303540:I1400T	I	-	2	0	SCN1A	166567313	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.324000	0.59228	2.226000	0.72624	0.482000	0.46254	ATA	SCN1A-003	NOVEL	non_canonical_U12|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333750.1		-	ENST00000409050.1	Missense_Mutation	SNP	2 : 166859067 - 166859067 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	393	102
LAMB2	3913	broad.mit.edu	37	3	49168980	49168980	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49168980G>T	ENST00000418109.1	-	6	800	c.636C>A	c.(634-636)tcC>tcA	p.S212S	LAMB2_ENST00000305544.4_Silent_p.S212S	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	212	Laminin N-terminal.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGCCTTCAGTGGATGGCTCAA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	153	151			NA	NA	3		NA											NA				49168980		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037	3913	3913		Laminins	6487	protein-coding gene	gene with protein product	laminin S	150325		LAMS	NA	2922051, 10393422	Standard	NM_002292	NM_002292	NA	Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.636C>A	3.37:g.49168980G>T		NA	Q16321	37	CCDS2789.1																																																																																			LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345939.1		-	ENST00000418109.1	Silent	SNP	3 : 49168980 - 49168980 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1217	218
PODXL	5420	broad.mit.edu	37	7	131196124	131196124	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131196124C>T	ENST00000378555.3	-	2	416	c.169G>A	c.(169-171)Gct>Act	p.A57T	PODXL_ENST00000465001.1_5'UTR|PODXL_ENST00000541194.1_Missense_Mutation_p.A59T|PODXL_ENST00000322985.9_Missense_Mutation_p.A57T|PODXL_ENST00000537928.1_Missense_Mutation_p.A57T			O00592	PODXL_HUMAN	podocalyxin-like	57	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					GTATCTGTAGCCATGATGGTG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													192	190	191			NA	NA	7		NA											NA				131196124		2203	4300	6503	SO:0001583	missense				CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567	5420	5420			9171	protein-coding gene	gene with protein product		602632			NA		Standard	NM_001018111	NM_001018111	NA	Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.169G>A	7.37:g.131196124C>T	ENSP00000367817:p.Ala57Thr	NA	A6NHX8|Q52LZ7|Q53ER6	37	CCDS34755.1	.	.	.	.	.	.	.	.	.	.	C	7.672	0.687178	0.14973	.	.	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000544955;ENST00000378555;ENST00000322985	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	2.34	-4.67	0.03319	.	.	.	.	.	T	0.20333	0.0489	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.006;0.003	B;B	0.10450	0.005;0.002	T	0.13791	-1.0496	9	0.27785	T	0.31	0.3962	4.1262	0.10128	0.0:0.265:0.3281:0.4069	.	57;57	O00592-2;O00592	.;PODXL_HUMAN	T	59;57;47;57;57	ENSP00000440518:A59T;ENSP00000442655:A57T;ENSP00000367817:A57T;ENSP00000319782:A57T	ENSP00000319782:A57T	A	-	1	0	PODXL	130846664	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.318000	0.00514	-1.236000	0.02542	-0.451000	0.05528	GCT	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337627.2		-	ENST00000378555.3	Missense_Mutation	SNP	7 : 131196124 - 131196124 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	503	73
OR51Q1	390061	broad.mit.edu	37	11	5443517	5443517	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5443517C>T	ENST00000300778.4	+	1	177	c.87C>T	c.(85-87)atC>atT	p.I29I	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATCTGGATCTCCATCCCCG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													306	236	260			NA	NA	11		NA											NA				5443517		2201	4297	6498	SO:0001819	synonymous_variant			AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360	390061	390061		GPCR / Class A : Olfactory receptors	14851	protein-coding gene	gene with protein product			olfactory receptor, family 51, subfamily Q, member 1		NA		Standard	NM_001004757	NM_001004757	NA	Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.87C>T	11.37:g.5443517C>T		NA	B2RNN1	37	CCDS31381.1																																																																																			OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000143373.1		+	ENST00000300778.4	Silent	SNP	11 : 5443517 - 5443517 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	836	30
GDAP2	54834	broad.mit.edu	37	1	118441835	118441835	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118441835T>C	ENST00000369443.5	-	7	889	c.640A>G	c.(640-642)Act>Gct	p.T214A	GDAP2_ENST00000369442.3_Missense_Mutation_p.T214A	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	NA	Macro.									kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		TTTTGGTAAGTACCCTGTGTC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	100	104			NA	NA	1		NA											NA				118441835		2203	4300	6503	SO:0001583	missense			AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505	54834	54834			18010	protein-coding gene	gene with protein product					NA	1021725	Standard	NM_017686	NM_017686	NA	Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.640A>G	1.37:g.118441835T>C	ENSP00000358451:p.Thr214Ala	NA	Q96DZ0	37	CCDS897.1	.	.	.	.	.	.	.	.	.	.	T	13.04	2.117044	0.37339	.	.	ENSG00000196505	ENST00000369443;ENST00000369442	T;T	0.20332	2.08;2.08	5.44	3.12	0.35913	Appr-1-p processing (1);	0.253796	0.46442	D	0.000283	T	0.02230	0.0069	N	0.02916	-0.46	0.36223	D	0.852104	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.41787	-0.9489	10	0.12103	T	0.63	-5.7334	8.8728	0.35327	0.0:0.2142:0.0:0.7858	.	214;214	Q9NXN4-2;Q9NXN4	.;GDAP2_HUMAN	A	214	ENSP00000358451:T214A;ENSP00000358450:T214A	ENSP00000358450:T214A	T	-	1	0	GDAP2	118243358	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.999000	0.40806	0.375000	0.24679	-0.361000	0.07541	ACT	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033732.2		-	ENST00000369443.5	Missense_Mutation	SNP	1 : 118441835 - 118441835 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	467	58
CDCA5	113130	broad.mit.edu	37	11	64847051	64847051	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64847051G>A	ENST00000275517.3	-	5	624	c.452C>T	c.(451-453)aCc>aTc	p.T151I	CDCA5_ENST00000404147.3_Missense_Mutation_p.T151I	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	151					cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						AGAGCCCAGGGTCTCCAGCCG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	34	33			NA	NA	11		NA											NA				64847051		2201	4297	6498	SO:0001583	missense			BG354578	CCDS8091.1	11q13.1	2011-01-31			ENSG00000146670	ENSG00000146670	113130	113130			14626	protein-coding gene	gene with protein product	sororin	609374			NA	12188893, 15837422	Standard	NM_080668	NM_080668	NA	Approved		uc001ocp.2	Q96FF9	OTTHUMG00000150420	ENST00000275517.3:c.452C>T	11.37:g.64847051G>A	ENSP00000275517:p.Thr151Ile	NA	A8K625	37	CCDS8091.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.959397	0.34565	.	.	ENSG00000146670	ENST00000275517;ENST00000404147	T;T	0.45668	0.89;0.89	4.89	-2.52	0.06346	.	1.143710	0.06283	N	0.697788	T	0.44329	0.1288	L	0.57536	1.79	0.09310	N	1	B	0.33413	0.411	B	0.39590	0.304	T	0.55101	-0.8193	10	0.59425	D	0.04	.	11.5239	0.50569	0.0:0.4348:0.4424:0.1228	.	151	Q96FF9	CDCA5_HUMAN	I	151	ENSP00000275517:T151I;ENSP00000385711:T151I	ENSP00000275517:T151I	T	-	2	0	CDCA5	64603627	0.058000	0.20735	0.000000	0.03702	0.356000	0.29392	0.335000	0.19806	-0.186000	0.10533	0.650000	0.86243	ACC	CDCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385186.1		-	ENST00000275517.3	Missense_Mutation	SNP	11 : 64847051 - 64847051 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	224	41
CHST8	64377	broad.mit.edu	37	19	34263465	34263465	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34263465C>T	ENST00000262622.4	+	4	1530	c.772C>T	c.(772-774)Cgc>Tgc	p.R258C	CHST8_ENST00000438847.3_Missense_Mutation_p.R258C|CHST8_ENST00000434302.1_Missense_Mutation_p.R258C	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	NA					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GCTCTTTGTCCGCGAGCCCTT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	103	107			NA	NA	19		NA											NA				34263465		2203	4300	6503	SO:0001583	missense			AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302	64377	64377		Sulfotransferases, membrane-bound	15993	protein-coding gene	gene with protein product		610190			NA	10988300, 11001942	Standard	NM_022467	NM_001127895	NA	Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.772C>T	19.37:g.34263465C>T	ENSP00000262622:p.Arg258Cys	NA	Q9H3N2	37	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.581599	0.65992	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	D;D;D	0.94376	-3.41;-3.41;-3.41	4.73	3.68	0.42216	.	0.000000	0.64402	D	0.000001	D	0.97288	0.9113	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97705	1.0187	10	0.87932	D	0	-3.592	13.2052	0.59790	0.1607:0.8393:0.0:0.0	.	258	Q9H2A9	CHST8_HUMAN	C	258	ENSP00000392604:R258C;ENSP00000393879:R258C;ENSP00000262622:R258C	ENSP00000262622:R258C	R	+	1	0	CHST8	38955305	1.000000	0.71417	0.587000	0.28692	0.791000	0.44710	4.738000	0.62073	0.943000	0.37553	0.297000	0.19635	CGC	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451453.1		+	ENST00000262622.4	Missense_Mutation	SNP	19 : 34263465 - 34263465 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	683	129
BMPR2	659	broad.mit.edu	37	2	203420850	203420850	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:203420850C>T	ENST00000374574.2	+	11	1627				BMPR2_ENST00000374580.4_Missense_Mutation_p.A821V			Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	NA					anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						TCCCATGCTGCCACAACCCAA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	74	77			NA	NA	2		NA											NA				203420850		2203	4300	6503	SO:0001627	intron_variant			Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217	659	659			1078	protein-coding gene	gene with protein product		600799	primary pulmonary hypertension 1	PPH1	NA	7791754	Standard	NM_001204	NM_001204	NA	Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374574.2:c.1586+3239C>T	2.37:g.203420850C>T		NA	Q16569|Q4ZG08|Q53SA5|Q585T8	37		.	.	.	.	.	.	.	.	.	.	C	13.55	2.269427	0.40095	.	.	ENSG00000204217	ENST00000374580	D	0.89485	-2.52	5.97	5.97	0.96955	.	0.329198	0.36778	N	0.002408	T	0.79511	0.4458	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.73506	-0.3961	10	0.45353	T	0.12	.	10.7522	0.46216	0.0:0.7854:0.1427:0.0719	.	821	Q13873	BMPR2_HUMAN	V	821	ENSP00000363708:A821V	ENSP00000363708:A821V	A	+	2	0	BMPR2	203129095	0.784000	0.28713	1.000000	0.80357	0.986000	0.74619	1.333000	0.33816	2.836000	0.97738	0.655000	0.94253	GCC	BMPR2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000257744.1		+	ENST00000374574.2	Intron	SNP	2 : 203420850 - 203420850 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	283	58
DHX30	22907	broad.mit.edu	37	3	47891485	47891485	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47891485C>T	ENST00000348968.4	+	23	3796	c.3376C>T	c.(3376-3378)Cgc>Tgc	p.R1126C	DHX30_ENST00000457607.1_Missense_Mutation_p.R1182C|DHX30_ENST00000446256.2_Missense_Mutation_p.R1115C|DHX30_ENST00000445061.1_Missense_Mutation_p.R1154C			Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	1154						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GCGGAGCCTGCGCAGCGAGCT	0.692		NA									OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	22	21			NA	NA	3		NA											NA				47891485		2198	4298	6496	SO:0001583	missense			AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153	22907	22907		DEAH-boxes	16716	protein-coding gene	gene with protein product			DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30, DEAH (Asp-Glu-Ala-His) box polypeptide 30	DDX30	NA	10048485, 18022663	Standard	NM_138615	NM_138615	NA	Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000348968.4:c.3376C>T	3.37:g.47891485C>T	ENSP00000343442:p.Arg1126Cys	950	A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	37		.	.	.	.	.	.	.	.	.	.	C	11.65	1.701653	0.30142	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03553	3.89;3.89;3.89;3.89	5.0	5.0	0.66597	.	0.304423	0.35772	N	0.003000	T	0.02342	0.0072	N	0.12182	0.205	0.45056	D	0.998076	B;B	0.17667	0.006;0.023	B;B	0.15484	0.001;0.013	T	0.51896	-0.8647	10	0.41790	T	0.15	.	6.0639	0.19852	0.1895:0.7111:0.0:0.0994	.	1154;1115	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	C	1115;1154;1126;1182	ENSP00000392601:R1115C;ENSP00000405620:R1154C;ENSP00000343442:R1126C;ENSP00000394682:R1182C	ENSP00000343442:R1126C	R	+	1	0	DHX30	47866489	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.043000	0.41231	2.303000	0.77524	0.462000	0.41574	CGC	DHX30-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000346137.1		+	ENST00000348968.4	Missense_Mutation	SNP	3 : 47891485 - 47891485 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	167	28
SLC35F4	341880	broad.mit.edu	37	14	58063507	58063507	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58063507G>T	ENST00000554729.1	-	1	99				SLC35F4_ENST00000339762.6_Missense_Mutation_p.P37T|SLC35F4_ENST00000556826.1_Intron|SLC35F4_ENST00000557430.1_Intron					solute carrier family 35, member F4	NA										breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTATGTCCTGGCTTCCATACC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	122	122			NA	NA	14		NA											NA				58063507		1960	4170	6130	SO:0001627	intron_variant					14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812	341880	341880		Solute carriers	19845	protein-coding gene	gene with protein product			chromosome 14 open reading frame 36	C14orf36	NA		Standard	XM_292260	NM_001206920	NA	Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000554729.1:c.262+9C>A	14.37:g.58063507G>T		NA		37		.	.	.	.	.	.	.	.	.	.	G	9.591	1.126237	0.20959	.	.	ENSG00000151812	ENST00000339762	T	0.54866	0.55	4.28	2.44	0.29823	.	.	.	.	.	T	0.39708	0.1088	.	.	.	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.36040	-0.9764	8	0.87932	D	0	.	5.848	0.18677	0.104:0.1966:0.6994:0.0	.	37	A4IF30	S35F4_HUMAN	T	37	ENSP00000342518:P37T	ENSP00000342518:P37T	P	-	1	0	SLC35F4	57133260	0.099000	0.21834	0.001000	0.08648	0.006000	0.05464	0.773000	0.26661	0.748000	0.32831	0.650000	0.86243	CCA	SLC35F4-001	PUTATIVE	upstream_uORF|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000412954.2		-	ENST00000554729.1	Intron	SNP	14 : 58063507 - 58063507 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	140	21
BTNL2	56244	broad.mit.edu	37	6	32370729	32370729	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32370729G>A	ENST00000454136.3	-	3	696	c.692C>T	c.(691-693)tCg>tTg	p.S231L	BTNL2_ENST00000374993.1_Missense_Mutation_p.S231L|BTNL2_ENST00000429232.2_Intron|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000414363.1_Intron			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	231	Ig-like V-type 2.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						GCTGATGACCGACCCCTTCTC	0.587		NA											G	6	0.0027	NA	NA	2184	0.01	0.9995	,	,	NA	2e-04	NA	NA	NA	0.0026	0.9094	LOWCOV	NA	NA	2e-04	SNP								NA				0													61	51	55			NA	NA	6		NA											NA				32370729		1510	2709	4219	SO:0001583	missense			AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290	56244	56244		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Butyrophilins	1142	protein-coding gene	gene with protein product		606000			NA	10803852, 15735647	Standard	NM_019602	XM_006726138	NA	Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000454136.3:c.692C>T	6.37:g.32370729G>A	ENSP00000390613:p.Ser231Leu	NA	A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	37		6	0.0027472527472527475	0	0.0	0	0.0	6	0.01048951048951049	0	0.0	G	14.29	2.490779	0.44249	.	.	ENSG00000204290	ENST00000468270;ENST00000374993	T	0.03982	3.74	4.71	3.84	0.44239	Immunoglobulin-like (1);	1.024130	0.07817	N	0.959082	T	0.02304	0.0071	M	0.66439	2.03	0.22737	N	0.998798	B	0.20052	0.041	B	0.08055	0.003	T	0.45323	-0.9269	10	0.20519	T	0.43	.	9.1993	0.37249	0.0993:0.0:0.9007:0.0	.	231	Q9UIR0	BTNL2_HUMAN	L	231	ENSP00000364132:S231L	ENSP00000364132:S231L	S	-	2	0	BTNL2	32478707	0.024000	0.19004	0.002000	0.10522	0.001000	0.01503	2.342000	0.43992	1.378000	0.46305	0.626000	0.83405	TCG	BTNL2-001	KNOWN	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000313671.2		-	ENST00000454136.3	Missense_Mutation	SNP	6 : 32370729 - 32370729 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	170	35
SLCO2B1	11309	broad.mit.edu	37	11	74914430	74914430	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74914430G>A	ENST00000289575.5	+	13	2302	c.1907G>A	c.(1906-1908)cGa>cAa	p.R636Q	SLCO2B1_ENST00000532236.1_Missense_Mutation_p.R520Q|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.R492Q|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.R409Q|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.R409Q|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.R614Q	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	636					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	TGTGGGCGTCGAGCTGTCTGT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	140	150			NA	NA	11		NA											NA				74914430		2200	4293	6493	SO:0001583	missense			AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26			11309	11309		Solute carriers	10962	protein-coding gene	gene with protein product		604988	solute carrier family 21 (organic anion transporter), member 9	SLC21A9	NA		Standard	NM_007256	NM_007256	NA	Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.1907G>A	11.37:g.74914430G>A	ENSP00000289575:p.Arg636Gln	NA	Q9H2Z0|Q9UFU1	37	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.364276	0.41902	.	.	ENSG00000137491	ENST00000289575;ENST00000341411;ENST00000532236;ENST00000525650;ENST00000454962;ENST00000428359	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.24	1.2	0.21068	Major facilitator superfamily domain, general substrate transporter (1);	0.526977	0.19505	N	0.112643	T	0.18467	0.0443	N	0.11154	0.105	0.09310	N	0.999998	B;B;B	0.23249	0.082;0.066;0.046	B;B;B	0.15484	0.013;0.011;0.013	T	0.23726	-1.0180	10	0.13108	T	0.6	.	7.8034	0.29187	0.3524:0.0:0.6476:0.0	.	492;409;636	E9PPU8;O94956-2;O94956	.;.;SO2B1_HUMAN	Q	636;409;520;492;409;614	ENSP00000289575:R636Q;ENSP00000341286:R409Q;ENSP00000434112:R520Q;ENSP00000436324:R492Q;ENSP00000389653:R409Q;ENSP00000388912:R614Q	ENSP00000289575:R636Q	R	+	2	0	SLCO2B1	74592078	0.026000	0.19158	0.279000	0.24732	0.897000	0.52465	0.461000	0.21940	0.216000	0.20781	0.650000	0.86243	CGA	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383933.1		+	ENST00000289575.5	Missense_Mutation	SNP	11 : 74914430 - 74914430 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	788	139
CYP2C18	1562	broad.mit.edu	37	10	96447959	96447959	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96447959G>T	ENST00000285979.6	+	3	608	c.409G>T	c.(409-411)Ggg>Tgg	p.G137W	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.G137W	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18	NA										NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TTTTGGGATGGGGAAGAGGAG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	116	119			NA	NA	10		NA											NA				96447959		2203	4300	6503	SO:0001583	missense			M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242	1562	1562		Cytochrome P450s	2620	protein-coding gene	gene with protein product		601131	cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18	CYP2C17	NA	1896026, 2009263	Standard	NM_000772	NM_000772	NA	Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.409G>T	10.37:g.96447959G>T	ENSP00000285979:p.Gly137Trp	NA		37	CCDS7435.1	.	.	.	.	.	.	.	.	.	.	g	18.84	3.708896	0.68615	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	T;T	0.71461	-0.57;-0.57	4.63	4.63	0.57726	.	0.000000	0.85682	U	0.000000	D	0.89118	0.6624	H	0.97186	3.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92789	0.6247	10	0.87932	D	0	.	14.9723	0.71243	0.0:0.0:1.0:0.0	.	137;137	Q4VAT5;P33260	.;CP2CI_HUMAN	W	137	ENSP00000341293:G137W;ENSP00000285979:G137W	ENSP00000285979:G137W	G	+	1	0	CYP2C18	96437949	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	8.658000	0.91110	2.105000	0.64084	0.306000	0.20318	GGG	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049486.1		+	ENST00000285979.6	Missense_Mutation	SNP	10 : 96447959 - 96447959 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	540	101
TTC18	0	broad.mit.edu	37	10	75101334	75101334	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75101334G>A	ENST00000340329.3	-	7	718	c.615C>T	c.(613-615)gaC>gaT	p.D205D	TTC18_ENST00000394865.1_Silent_p.D205D|TTC18_ENST00000310715.3_Silent_p.D205D|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000401621.2_Silent_p.D205D|TTC18_ENST00000493787.1_5'UTR			Q5T0N1	TTC18_HUMAN		205							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					AAATGGGATAGTCCTTCTACA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	55	54			NA	NA	10		NA											NA				75101334		2203	4300	6503	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000340329.3:c.615C>T	10.37:g.75101334G>A		NA	C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	37																																																																																				TTC18-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000048628.1		-	ENST00000340329.3	Silent	SNP	10 : 75101334 - 75101334 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	54
ASXL3	80816	broad.mit.edu	37	18	31324318	31324318	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31324318C>T	ENST00000269197.5	+	12	4506	c.4506C>T	c.(4504-4506)ggC>ggT	p.G1502G		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACCTGCAGGGCAGACCAGTGA	0.552		NA									OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	39	39			NA	NA	18		NA											NA				31324318		2202	4299	6501	SO:0001819	synonymous_variant			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431	80816	80816			29357	protein-coding gene	gene with protein product		615115	KIAA1713, additional sex combs like 3 (Drosophila)	KIAA1713	NA	11214970	Standard		NM_030632	NA	Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.4506C>T	18.37:g.31324318C>T		823	Q6ZMX6|Q96MU3|Q9UFC5	37	CCDS45847.1																																																																																			ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000441865.2		+	ENST00000269197.5	Silent	SNP	18 : 31324318 - 31324318 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	201	39
IL9	3578	broad.mit.edu	37	5	135231466	135231466	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:135231466A>G	ENST00000274520.1	-	1	50	c.40T>C	c.(40-42)Tgc>Cgc	p.C14R		NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	14					immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity			large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCCACGGAGCACAGGAGCAGG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	62	61			NA	NA	5		NA											NA				135231466		2203	4300	6503	SO:0001583	missense			S63356	CCDS4189.1	5q31-q35	2008-07-18			ENSG00000145839	ENSG00000145839	3578	3578		Interleukins and interleukin receptors	6029	protein-coding gene	gene with protein product	p40 T-cell and mast cell growth factor, T-cell growth factor p40, p40 cytokine, homolog of mouse T cell and mast cell growth factor 40	146931			NA	8379467	Standard	NM_000590	NM_000590	NA	Approved	IL-9, HP40, P40	uc003lbb.1	P15248	OTTHUMG00000129147	ENST00000274520.1:c.40T>C	5.37:g.135231466A>G	ENSP00000274520:p.Cys14Arg	NA		37	CCDS4189.1	.	.	.	.	.	.	.	.	.	.	A	14.71	2.617588	0.46736	.	.	ENSG00000145839	ENST00000274520	T	0.45668	0.89	4.37	-1.44	0.08856	.	0.570981	0.14837	N	0.295519	T	0.36331	0.0963	L	0.46157	1.445	0.09310	N	0.999999	D	0.54964	0.969	P	0.49276	0.605	T	0.23368	-1.0190	10	0.59425	D	0.04	-1.8883	4.569	0.12200	0.3378:0.3355:0.0:0.3268	.	14	P15248	IL9_HUMAN	R	14	ENSP00000274520:C14R	ENSP00000274520:C14R	C	-	1	0	IL9	135259365	0.010000	0.17322	0.032000	0.17829	0.051000	0.14879	-0.075000	0.11431	-0.025000	0.13918	0.533000	0.62120	TGC	IL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251210.1		-	ENST00000274520.1	Missense_Mutation	SNP	5 : 135231466 - 135231466 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	463	76
TXNDC11	51061	broad.mit.edu	37	16	11785247	11785247	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11785247G>A	ENST00000356957.3	-	9	1987	c.1880C>T	c.(1879-1881)cCg>cTg	p.P627L	TXNDC11_ENST00000283033.5_Missense_Mutation_p.P600L			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	627					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						AGTGGAGCTCGGAGCACCCAG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	130	131			NA	NA	16		NA											NA				11785247		2197	4300	6497	SO:0001583	missense			BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066	51061	51061			28030	protein-coding gene	gene with protein product	EF-hand binding protein 1				NA	8619474, 9110174	Standard	NM_015914	XM_005255346	NA	Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.1880C>T	16.37:g.11785247G>A	ENSP00000349439:p.Pro627Leu	NA	O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	37		.	.	.	.	.	.	.	.	.	.	G	17.56	3.420081	0.62622	.	.	ENSG00000153066	ENST00000356957;ENST00000283033	T;T	0.14266	2.74;2.52	5.81	5.81	0.92471	.	0.245095	0.42821	D	0.000651	T	0.12475	0.0303	L	0.34521	1.04	0.58432	D	0.999992	P;P	0.43519	0.491;0.809	B;B	0.35655	0.098;0.207	T	0.03221	-1.1059	10	0.38643	T	0.18	-22.9249	19.0707	0.93134	0.0:0.0:1.0:0.0	.	627;600	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	L	627;600	ENSP00000349439:P627L;ENSP00000283033:P600L	ENSP00000283033:P600L	P	-	2	0	TXNDC11	11692748	1.000000	0.71417	0.982000	0.44146	0.873000	0.50193	6.778000	0.75043	2.746000	0.94184	0.655000	0.94253	CCG	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000437057.1		-	ENST00000356957.3	Missense_Mutation	SNP	16 : 11785247 - 11785247 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	600	109
NTHL1	4913	broad.mit.edu	37	16	2094713	2094713	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2094713G>A	ENST00000219066.1	-	3	485	c.467C>T	c.(466-468)gCg>gTg	p.A156V		NM_002528.5	NP_002519.1	P78549	NTHL1_HUMAN	nth endonuclease III-like 1 (E. coli)	156					depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						CAGGCCCCGCGCCCGCAGTCG	0.642		NA						Base excision repair (BER), DNA glycosylases						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	35	39			NA	NA	16		NA											NA				2094713		2197	4297	6494	SO:0001583	missense			U81285	CCDS10457.1	16p13.3	2008-02-05	2001-11-28		ENSG00000065057	ENSG00000065057	4913	4913			8028	protein-coding gene	gene with protein product		602656	nth (E.coli endonuclease III)-like 1		NA	9045706, 8990169	Standard	NM_002528	NM_002528	NA	Approved	NTH1, OCTS3	uc002col.1	P78549	OTTHUMG00000128744	ENST00000219066.1:c.467C>T	16.37:g.2094713G>A	ENSP00000219066:p.Ala156Val	NA	Q1MVR1|Q99566|Q99794|Q9BPX2	37	CCDS10457.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120132	0.37436	.	.	ENSG00000065057	ENST00000219066	D	0.86865	-2.18	5.44	3.27	0.37495	HhH-GPD domain (2);DNA glycosylase (2);	0.492803	0.20963	N	0.082536	D	0.85448	0.5699	M	0.88181	2.935	0.09310	N	1	B;B	0.29936	0.262;0.262	B;B	0.25405	0.06;0.06	T	0.76214	-0.3041	10	0.34782	T	0.22	-13.851	4.9055	0.13797	0.0828:0.1067:0.5665:0.244	.	156;156	E5KTI5;P78549	.;NTHL1_HUMAN	V	156	ENSP00000219066:A156V	ENSP00000219066:A156V	A	-	2	0	NTHL1	2034714	0.957000	0.32711	0.901000	0.35422	0.932000	0.56968	2.873000	0.48475	1.300000	0.44818	0.561000	0.74099	GCG	NTHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250656.1		-	ENST00000219066.1	Missense_Mutation	SNP	16 : 2094713 - 2094713 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	240	46
STOX1	219736	broad.mit.edu	37	10	70645435	70645435	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70645435T>C	ENST00000298596.6	+	3	1966	c.1883T>C	c.(1882-1884)tTt>tCt	p.F628S	STOX1_ENST00000421961.2_Missense_Mutation_p.F518S|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.F628S|STOX1_ENST00000399162.2_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	628						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CATTCCCACTTTGACAAATTA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	122	125			NA	NA	10		NA											NA				70645435		1920	4147	6067	SO:0001583	missense			AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730	219736	219736			23508	protein-coding gene	gene with protein product		609397	chromosome 10 open reading frame 24	C10orf24	NA		Standard	NM_152709	NM_152709	NA	Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.1883T>C	10.37:g.70645435T>C	ENSP00000298596:p.Phe628Ser	NA	A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	37	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	T	7.538	0.660004	0.14645	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	T;T;T	0.72615	-0.67;-0.67;-0.35	6.07	1.24	0.21308	.	0.694453	0.14722	N	0.302274	T	0.57388	0.2050	L	0.51422	1.61	0.09310	N	1	B	0.14805	0.011	B	0.15870	0.014	T	0.40534	-0.9558	10	0.25106	T	0.35	.	4.5658	0.12186	0.0:0.2893:0.169:0.5417	.	628	Q6ZVD7	STOX1_HUMAN	S	628;628;518	ENSP00000382121:F628S;ENSP00000298596:F628S;ENSP00000394509:F518S	ENSP00000298596:F628S	F	+	2	0	STOX1	70315441	0.000000	0.05858	0.440000	0.26846	0.966000	0.64601	-0.170000	0.09897	0.524000	0.28502	0.528000	0.53228	TTT	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276849.3		+	ENST00000298596.6	Missense_Mutation	SNP	10 : 70645435 - 70645435 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	684	30
ABCC8	6833	broad.mit.edu	37	11	17414677	17414677	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17414677T>G	ENST00000389817.3	-	39	4677		c.e39-2		ABCC8_ENST00000302539.4_Splice_Site			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	NA					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CACTCGATGCTGGGCAGGGCA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CS025926|CS061237	ABCC8	S							56	46	50			NA	NA	11		NA											NA				17414677		2200	4293	6493	SO:0001630	splice_region_variant			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071	6833	6833		ATP binding cassette transporters / subfamily C	59	protein-coding gene	gene with protein product	sulfonylurea receptor (hyperinsulinemia)	600509		SUR, HRINS	NA	7920639, 7716548	Standard	NM_000352	NM_000352	NA	Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.4609-2A>C	11.37:g.17414677T>G		NA	A6NMX8|O75948|Q16583	37	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.336514	0.60963	.	.	ENSG00000006071	ENST00000389817;ENST00000302539	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.069	0.72021	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCC8	17371253	1.000000	0.71417	1.000000	0.80357	0.577000	0.36160	7.683000	0.84093	1.968000	0.57251	0.459000	0.35465	.	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389093.1	Intron	-	ENST00000389817.3	Splice_Site	SNP	11 : 17414677 - 17414677 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	328	61
LPCAT4	254531	broad.mit.edu	37	15	34654469	34654469	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34654469A>C	ENST00000314891.6	-	10	1115	c.938T>G	c.(937-939)aTt>aGt	p.I313S		NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	313					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						GCCCACCACAATCACAGGTAA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	105	106			NA	NA	15		NA											NA				34654469		2201	4298	6499	SO:0001583	missense			AF542964	CCDS32191.1	15q14	2008-07-02	2008-06-24	2008-06-24		ENSG00000176454	254531	254531			30059	protein-coding gene	gene with protein product	lysophosphatidylethanolamine acyltransferase 2	612039	acyltransferase like 3, 1-acylglycerol-3-phosphate O-acyltransferase 7 (lysophosphatidic acid acyltransferase, eta)	AYTL3, AGPAT7	NA	8619474, 9110174, 16243729, 18458083	Standard	NM_153613	XR_243087	NA	Approved	FLJ10257, LPAAT-eta, LPEAT2	uc001zig.3	Q643R3		ENST00000314891.6:c.938T>G	15.37:g.34654469A>C	ENSP00000317300:p.Ile313Ser	NA	A8K2K8|O43412|Q7Z4P4|Q8IUL7|Q8TB38	37	CCDS32191.1	.	.	.	.	.	.	.	.	.	.	A	14.18	2.459603	0.43736	.	.	ENSG00000176454	ENST00000314891	T	0.80480	-1.38	5.35	4.22	0.49857	.	0.502673	0.20331	N	0.094425	T	0.58694	0.2140	N	0.13168	0.305	0.36546	D	0.871549	B	0.02656	0.0	B	0.01281	0.0	T	0.55321	-0.8159	10	0.13853	T	0.58	-2.434	3.6788	0.08302	0.6844:0.0:0.3156:0.0	.	313	Q643R3	LPCT4_HUMAN	S	313	ENSP00000317300:I313S	ENSP00000317300:I313S	I	-	2	0	LPCAT4	32441761	0.983000	0.35010	1.000000	0.80357	0.996000	0.88848	1.475000	0.35409	2.021000	0.59480	0.482000	0.46254	ATT	LPCAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418028.2		-	ENST00000314891.6	Missense_Mutation	SNP	15 : 34654469 - 34654469 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	507	14
ZBTB20	26137	broad.mit.edu	37	3	114069698	114069698	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114069698G>A	ENST00000462705.1	-	11	1829	c.1008C>T	c.(1006-1008)ccC>ccT	p.P336P	ZBTB20_ENST00000357258.3_Silent_p.P336P|ZBTB20_ENST00000474710.1_Silent_p.P409P|ZBTB20_ENST00000471418.1_Silent_p.P336P|ZBTB20_ENST00000464560.1_Silent_p.P336P|ZBTB20_ENST00000481632.1_Silent_p.P336P|ZBTB20_ENST00000393785.2_Silent_p.P336P	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CAGCCTGCTCGGGTTGGGTGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(69;748 1344 9802 11203 30933)							NA				0													47	51	50			NA	NA	3		NA											NA				114069698		2203	4300	6503	SO:0001819	synonymous_variant			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722	26137	26137		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	13503	protein-coding gene	gene with protein product		606025	zinc finger protein 288	ZNF288	NA	10965110, 11352661	Standard	NM_015642	XM_005247339	NA	Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000462705.1:c.1008C>T	3.37:g.114069698G>A		NA	Q63HP6|Q8N6R5|Q9Y410	37	CCDS2981.1																																																																																			ZBTB20-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354954.1		-	ENST00000462705.1	Silent	SNP	3 : 114069698 - 114069698 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	572	104
ZNF749	388567	broad.mit.edu	37	19	57956804	57956804	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57956804A>C	ENST00000334181.4	+	3	2538	c.2288A>C	c.(2287-2289)aAc>aCc	p.N763T	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	763					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TTTAAATACAACTCCAGCCTC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	99	97			NA	NA	19		NA											NA				57956804		2203	4300	6503	SO:0001583	missense			AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230	388567	388567		Zinc fingers, C2H2-type, -	32783	protein-coding gene	gene with protein product					NA		Standard	NM_001023561	NM_001023561	NA	Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.2288A>C	19.37:g.57956804A>C	ENSP00000333980:p.Asn763Thr	NA		37	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	-	7.354	0.623424	0.14193	.	.	ENSG00000186230	ENST00000334181	T	0.01572	4.76	1.22	-0.00992	0.13998	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01421	0.0046	L	0.35487	1.065	0.09310	N	1	B	0.17852	0.024	B	0.18263	0.021	T	0.49244	-0.8960	9	0.20046	T	0.44	.	2.5274	0.04695	0.3435:0.2964:0.3602:0.0	.	763	O43361	ZN749_HUMAN	T	763	ENSP00000333980:N763T	ENSP00000333980:N763T	N	+	2	0	ZNF749	62648616	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-2.267000	0.01170	-0.063000	0.13065	0.172000	0.16884	AAC	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317879.1		+	ENST00000334181.4	Missense_Mutation	SNP	19 : 57956804 - 57956804 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	495	79
MYH7B	57644	broad.mit.edu	37	20	33578604	33578604	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33578604G>A	ENST00000262873.7	+	21	2259	c.2167G>A	c.(2167-2169)Gtc>Atc	p.V723I		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	681	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCGCTGCATTGTCCCCAACGA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	60	58			NA	NA	20		NA											NA				33578604		2043	4197	6240	SO:0001583	missense			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814	57644	57644		Myosins / Myosin superfamily : Class II	15906	protein-coding gene	gene with protein product		609928	myosin, heavy polypeptide 7B, cardiac muscle, beta		NA	11919279, 15014174	Standard	NM_020884	XM_006723839	NA	Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.2167G>A	20.37:g.33578604G>A	ENSP00000262873:p.Val723Ile	NA	Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	37	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	2.663	-0.279273	0.05642	.	.	ENSG00000078814	ENST00000262873	D	0.85955	-2.05	3.8	3.8	0.43715	Myosin head, motor domain (2);	0.000000	0.34338	N	0.004041	T	0.45175	0.1329	N	0.00162	-1.95	0.37813	D	0.928124	B	0.09022	0.002	B	0.10450	0.005	T	0.60321	-0.7286	10	0.02654	T	1	.	4.53	0.12001	0.273:0.0:0.727:0.0	.	681	A7E2Y1	MYH7B_HUMAN	I	723	ENSP00000262873:V723I	ENSP00000262873:V723I	V	+	1	0	MYH7B	33042265	1.000000	0.71417	0.998000	0.56505	0.427000	0.31564	7.426000	0.80270	2.422000	0.82143	0.561000	0.74099	GTC	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078833.2		+	ENST00000262873.7	Missense_Mutation	SNP	20 : 33578604 - 33578604 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	18
TOPORS	10210	broad.mit.edu	37	9	32544209	32544209	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32544209A>G	ENST00000360538.2	-	3	430	c.314T>C	c.(313-315)aTa>aCa	p.I105T	TOPORS_ENST00000379858.1_Missense_Mutation_p.I40T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	105	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ATCCAAGCATATAGGACACTT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	95	95			NA	NA	9		NA											NA				32544209		2203	4300	6503	SO:0001583	missense			AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579	10210	10210		RING-type (C3HC4) zinc fingers	21653	protein-coding gene	gene with protein product		609507	retinitis pigmentosa 31 (autosomal dominant), topoisomerase I binding, arginine/serine-rich	RP31	NA	10352183, 12083797, 17924349	Standard	NM_005802	NM_005802	NA	Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.314T>C	9.37:g.32544209A>G	ENSP00000353735:p.Ile105Thr	NA	O43273|Q6P987|Q9NS55|Q9UNR9	37	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.972680	0.53614	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.80653	-1.4;-1.4	5.6	4.47	0.54385	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.53938	D	0.000048	D	0.85596	0.5733	H	0.95043	3.615	0.53005	D	0.999962	B	0.15473	0.013	B	0.19391	0.025	D	0.83933	0.0307	10	0.87932	D	0	-22.7446	10.7379	0.46137	0.9242:0.0:0.0758:0.0	.	105	Q9NS56	TOPRS_HUMAN	T	105;40	ENSP00000353735:I105T;ENSP00000369187:I40T	ENSP00000353735:I105T	I	-	2	0	TOPORS	32534209	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.962000	0.93254	1.076000	0.40961	0.533000	0.62120	ATA	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052007.1		-	ENST00000360538.2	Missense_Mutation	SNP	9 : 32544209 - 32544209 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	564	95
SPSB1	80176	broad.mit.edu	37	1	9416645	9416645	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9416645G>A	ENST00000328089.6	+	2	1035		c.e2+1		SPSB1_ENST00000377399.2_Splice_Site|SPSB1_ENST00000357898.3_Splice_Site	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	NA					intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		GGACTCGATCGTAAGTGTCTC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	66	66			NA	NA	1		NA											NA				9416645		2203	4300	6503	SO:0001630	splice_region_variant				CCDS102.1	1p36.22	2008-02-05			ENSG00000171621	ENSG00000171621	80176	80176			30628	protein-coding gene	gene with protein product		611657			NA	15713673, 12076535	Standard	NM_025106	NM_025106	NA	Approved	SSB-1	uc010oae.2	Q96BD6	OTTHUMG00000001279	ENST00000328089.6:c.694+1G>A	1.37:g.9416645G>A		NA	A2A275|Q59FA1|Q5TIH9|Q9BRY9|Q9H6C5	37	CCDS102.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.531086	0.64972	.	.	ENSG00000171621	ENST00000328089;ENST00000357898;ENST00000377399	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5733	0.87941	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPSB1	9339232	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	9.799000	0.99117	2.397000	0.81536	0.655000	0.94253	.	SPSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000003727.2	Intron	+	ENST00000328089.6	Splice_Site	SNP	1 : 9416645 - 9416645 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	299	18
PCK2	5106	broad.mit.edu	37	14	24568398	24568398	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24568398G>A	ENST00000561286.1	+	5	734	c.403G>A	c.(403-405)Gcc>Acc	p.A135T	PCK2_ENST00000545054.2_Missense_Mutation_p.A135T|PCK2_ENST00000559250.1_Missense_Mutation_p.A281T|PCK2_ENST00000558096.1_Missense_Mutation_p.A135T|NRL_ENST00000561028.1_Intron|PCK2_ENST00000216780.4_Missense_Mutation_p.A269T|PCK2_ENST00000396973.4_Missense_Mutation_p.A269T			Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	269					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		CCTACGCATCGCCTCTCGGCT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	41	42			NA	NA	14		NA											NA				24568398		2203	4300	6503	SO:0001583	missense			AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	5106	5106	4.1.1.32		8725	protein-coding gene	gene with protein product		614095			NA	8645161, 9657976	Standard	NM_001018073	XM_005267726	NA	Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000561286.1:c.403G>A	14.37:g.24568398G>A	ENSP00000454011:p.Ala135Thr	NA	O43253|Q86U01|Q9BV62	37		.	.	.	.	.	.	.	.	.	.	G	36	5.854427	0.97030	.	.	ENSG00000100889	ENST00000216780;ENST00000396973;ENST00000545054	T;T;T	0.21191	2.02;2.02;2.02	5.79	5.79	0.91817	Phosphoenolpyruvate carboxykinase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.46229	0.1382	M	0.63428	1.95	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.992;0.999;0.996	T	0.32798	-0.9893	10	0.87932	D	0	-19.0125	17.534	0.87822	0.0:0.0:1.0:0.0	.	135;269;269;269	B4DW73;Q16822;Q16822-2;Q6IB91	.;PCKGM_HUMAN;.;.	T	269;269;135	ENSP00000216780:A269T;ENSP00000380171:A269T;ENSP00000441826:A135T	ENSP00000216780:A269T	A	+	1	0	PCK2	23638238	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.476000	0.97823	2.750000	0.94351	0.563000	0.77884	GCC	PCK2-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000416426.1		+	ENST00000561286.1	Missense_Mutation	SNP	14 : 24568398 - 24568398 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	333	29
DHX57	90957	broad.mit.edu	37	2	39030003	39030003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39030003G>A	ENST00000295373.6	-	23	3997	c.3871C>T	c.(3871-3873)Cga>Tga	p.R1291*		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1291							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ATGAATACTCGACTAGTTTTT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(191;1090 2095 4375 23729 47341)							NA				0													190	183	185			NA	NA	2		NA											NA				39030003		2203	4300	6503	SO:0001587	stop_gained			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214	90957	90957		DEAH-boxes	20086	protein-coding gene	gene with protein product					NA		Standard	NM_145646	NM_198963	NA	Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.3871C>T	2.37:g.39030003G>A	ENSP00000295373:p.Arg1291*	NA	A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	37	CCDS1800.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.309689|5.309689	0.95629|0.95629	.|.	.|.	ENSG00000163214|ENSG00000163214	ENST00000295373|ENST00000452978	.|T	.|0.05717	.|3.4	5.64|5.64	4.76|4.76	0.60689|0.60689	.|.	0.000000|.	0.48767|.	D|.	0.000166|.	.|T	.|0.18257	.|0.0438	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.10520	.|-1.0626	.|5	0.06625|0.87932	T|D	0.88|0	.|.	14.431|14.431	0.67251|0.67251	0.071:0.0:0.929:0.0|0.071:0.0:0.929:0.0	.|.	.|.	.|.	.|.	X|L	1291|569	.|ENSP00000397841:S569L	ENSP00000295373:R1291X|ENSP00000397841:S569L	R|S	-|-	1|2	2|0	DHX57|DHX57	38883507|38883507	1.000000|1.000000	0.71417|0.71417	0.072000|0.072000	0.20136|0.20136	0.159000|0.159000	0.22180|0.22180	7.860000|7.860000	0.86993|0.86993	1.381000|1.381000	0.46364|0.46364	0.455000|0.455000	0.32223|0.32223	CGA|TCG	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219940.2		-	ENST00000295373.6	Nonsense_Mutation	SNP	2 : 39030003 - 39030003 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	697	137
LYST	1130	broad.mit.edu	37	1	235955384	235955384	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235955384A>G	ENST00000389794.3	-	12	4332	c.4158T>C	c.(4156-4158)gaT>gaC	p.D1386D	LYST_ENST00000389793.2_Silent_p.D1386D|LYST_ENST00000536965.1_Intron			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1386					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCATAGTAGTATCACTTTCAA	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	66	65			NA	NA	1		NA											NA				235955384		2203	4300	6503	SO:0001819	synonymous_variant			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669	1130	1130		WD repeat domain containing	1968	protein-coding gene	gene with protein product		606897	Chediak-Higashi syndrome 1	CHS1	NA	8717042, 8896560	Standard		NM_000081	NA	Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.4158T>C	1.37:g.235955384A>G		NA	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	37	CCDS31062.1																																																																																			LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097533.5		-	ENST00000389794.3	Silent	SNP	1 : 235955384 - 235955384 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	443	78
SFXN1	94081	broad.mit.edu	37	5	174940559	174940559	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174940559C>T	ENST00000321442.5	+	7	944	c.690C>T	c.(688-690)gtC>gtT	p.V230V		NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	230					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CGCAAGTTGTCGTGTCCAGGA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	95	99			NA	NA	5		NA											NA				174940559		2203	4300	6503	SO:0001819	synonymous_variant			AF327346	CCDS4394.1	5q35.3	2008-02-05			ENSG00000164466	ENSG00000164466	94081	94081		Sideroflexins	16085	protein-coding gene	gene with protein product		615569			NA		Standard	NM_022754	NM_022754	NA	Approved	FLJ12876	uc003mda.2	Q9H9B4	OTTHUMG00000130555	ENST00000321442.5:c.690C>T	5.37:g.174940559C>T		NA	B3KPW3|D3DQN2|Q9HA53	37	CCDS4394.1																																																																																			SFXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252980.2		+	ENST00000321442.5	Silent	SNP	5 : 174940559 - 174940559 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	372	99
ZNF133	7692	broad.mit.edu	37	20	18297174	18297174	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18297174G>T	ENST00000377671.3	+	7	2235	c.1676G>T	c.(1675-1677)gGc>gTc	p.G559V	ZNF133_ENST00000316358.4_Missense_Mutation_p.G560V|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000538547.1_Missense_Mutation_p.G465V|ZNF133_ENST00000402618.2_Missense_Mutation_p.G497V|ZNF133_ENST00000401790.1_Missense_Mutation_p.G560V|ZNF133_ENST00000535822.1_Missense_Mutation_p.G465V|ZNF133_ENST00000396026.3_Missense_Mutation_p.G563V	NM_001083330.2|NM_003434.4	NP_001076799.1|NP_003425	P52736	ZN133_HUMAN	zinc finger protein 133	560						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						CTGGGCTTTGGCAATAAGTCA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	86	92			NA	NA	20		NA											NA				18297174		2203	4300	6503	SO:0001583	missense			AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846	7692	7692		Zinc fingers, C2H2-type, -	12917	protein-coding gene	gene with protein product		604075	zinc finger protein 150 (pHZ-66), zinc finger protein 133 (clone pHZ-13)	ZNF150	NA	7557990, 7649249	Standard	NM_003434	XM_005260819	NA	Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000377671.3:c.1676G>T	20.37:g.18297174G>T	ENSP00000366899:p.Gly559Val	NA	A8K5S4|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	37	CCDS13134.1	.	.	.	.	.	.	.	.	.	.	G	2.626	-0.287488	0.05605	.	.	ENSG00000125846	ENST00000377671;ENST00000396026;ENST00000402618;ENST00000401790;ENST00000538547;ENST00000535822;ENST00000316358	T;T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11;1.11	4.23	1.17	0.20885	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.687394	0.13418	N	0.389409	T	0.25419	0.0618	N	0.20881	0.62	0.09310	N	0.999999	B;B;B;B	0.23540	0.087;0.039;0.064;0.052	B;B;B;B	0.32928	0.155;0.102;0.102;0.062	T	0.28332	-1.0047	10	0.20046	T	0.44	-4.9001	3.4811	0.07602	0.2924:0.0:0.5306:0.177	.	497;563;560;559	B4DIB8;B4DHU7;P52736;P52736-2	.;.;ZN133_HUMAN;.	V	559;563;497;560;465;465;560	ENSP00000366899:G559V;ENSP00000400897:G563V;ENSP00000385279:G497V;ENSP00000383945:G560V;ENSP00000442978:G465V;ENSP00000439427:G465V;ENSP00000346090:G560V	ENSP00000346090:G560V	G	+	2	0	ZNF133	18245174	0.000000	0.05858	0.037000	0.18230	0.317000	0.28152	-0.640000	0.05440	0.309000	0.22966	0.655000	0.94253	GGC	ZNF133-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078158.2		+	ENST00000377671.3	Missense_Mutation	SNP	20 : 18297174 - 18297174 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	55
JUP	3728	broad.mit.edu	37	17	39919402	39919402	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39919402G>A	ENST00000393931.3	-	8	1448	c.1330C>T	c.(1330-1332)Cgt>Tgt	p.R444C	JUP_ENST00000540235.1_Intron|JUP_ENST00000310706.5_Missense_Mutation_p.R444C|JUP_ENST00000393930.1_Missense_Mutation_p.R444C	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	444					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TCACCAGCACGCAGGATGGCA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(16;42 520 6044 17852 28530)							NA				0													160	120	134			NA	NA	17		NA											NA				39919402		2203	4300	6503	SO:0001583	missense			AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801	3728	3728		Armadillo repeat containing	6207	protein-coding gene	gene with protein product		173325	catenin (cadherin-associated protein), gamma 80kDa	CTNNG	NA	1889810, 7604000	Standard		NM_021991	NA	Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.1330C>T	17.37:g.39919402G>A	ENSP00000377508:p.Arg444Cys	NA	Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	37	CCDS11407.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728521	0.69074	.	.	ENSG00000173801	ENST00000393930;ENST00000310706;ENST00000393931	T;T;T	0.01406	4.93;4.93;4.93	5.08	1.81	0.25067	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.04907	0.0132	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.65010	0.931	T	0.29150	-1.0021	10	0.87932	D	0	-8.3127	7.3789	0.26843	0.1507:0.0:0.7112:0.1381	.	444	P14923	PLAK_HUMAN	C	444	ENSP00000377507:R444C;ENSP00000311113:R444C;ENSP00000377508:R444C	ENSP00000311113:R444C	R	-	1	0	JUP	37172928	1.000000	0.71417	0.976000	0.42696	0.847000	0.48162	2.941000	0.49011	0.668000	0.31126	0.491000	0.48974	CGT	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257406.1		-	ENST00000393931.3	Missense_Mutation	SNP	17 : 39919402 - 39919402 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	328	61
HMCN1	83872	broad.mit.edu	37	1	186097274	186097274	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186097274T>C	ENST00000271588.4	+	83	12984	c.12755T>C	c.(12754-12756)gTc>gCc	p.V4252A	HMCN1_ENST00000367492.2_Missense_Mutation_p.V4252A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4252	Ig-like C2-type 41.				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						ACACACACTGTCAGCCTGACT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	114	119			NA	NA	1		NA											NA				186097274		2203	4300	6503	SO:0001583	missense			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.12755T>C	1.37:g.186097274T>C	ENSP00000271588:p.Val4252Ala	NA	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.745359	0.49151	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.64803	-0.12;-0.12	5.37	5.37	0.77165	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.436422	0.26474	N	0.024162	T	0.49813	0.1579	N	0.20610	0.595	0.37196	D	0.904143	B	0.31968	0.349	B	0.38803	0.282	T	0.51100	-0.8748	10	0.09590	T	0.72	.	15.3567	0.74431	0.0:0.0:0.0:1.0	.	4252	Q96RW7	HMCN1_HUMAN	A	4252	ENSP00000271588:V4252A;ENSP00000356462:V4252A	ENSP00000271588:V4252A	V	+	2	0	HMCN1	184363897	0.998000	0.40836	0.908000	0.35775	0.988000	0.76386	3.908000	0.56355	2.028000	0.59812	0.482000	0.46254	GTC	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131848.1		+	ENST00000271588.4	Missense_Mutation	SNP	1 : 186097274 - 186097274 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	505	120
CD160	11126	broad.mit.edu	37	1	145704275	145704275	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145704275G>A	ENST00000369288.2	-	4	359	c.142C>T	c.(142-144)Cat>Tat	p.H48Y	CD160_ENST00000369290.1_Intron|CD160_ENST00000235933.6_Missense_Mutation_p.H48Y|CD160_ENST00000401557.3_Missense_Mutation_p.H48Y	NM_007053.2	NP_008984.1	O95971	BY55_HUMAN	CD160 molecule	48	Ig-like V-type.				cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response	anchored to plasma membrane	MHC class I receptor activity|receptor binding			endometrium(3)|large_intestine(2)|lung(2)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			TCTTTCTTATGCCATACAGTA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(182;1122 1999 4065 44014 53024)							NA				0													97	93	94			NA	NA	1		NA											NA				145704275		2203	4300	6503	SO:0001583	missense			AF060981	CCDS72861.1	1q21.2	2011-01-25	2006-03-28		ENSG00000117281	ENSG00000117281	11126	11126		CD molecules	17013	protein-coding gene	gene with protein product		604463	CD160 antigen		NA	9743336, 9973372	Standard	NM_007053	NM_007053	NA	Approved	BY55, NK1, NK28	uc001eol.1	O95971	OTTHUMG00000013749	ENST00000369288.2:c.142C>T	1.37:g.145704275G>A	ENSP00000358294:p.His48Tyr	NA		37	CCDS923.1	.	.	.	.	.	.	.	.	.	.	G	1.750	-0.489403	0.04352	.	.	ENSG00000117281	ENST00000235933;ENST00000369288;ENST00000401557	T;T;T	0.03242	4.0;4.0;4.0	4.34	-1.06	0.10002	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.702414	0.12343	N	0.477329	T	0.00666	0.0022	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.44097	-0.9350	10	0.19147	T	0.46	1.5738	7.9615	0.30074	0.4802:0.0:0.5198:0.0	.	48	O95971	BY55_HUMAN	Y	48	ENSP00000235933:H48Y;ENSP00000358294:H48Y;ENSP00000385199:H48Y	ENSP00000235933:H48Y	H	-	1	0	CD160	144415632	0.000000	0.05858	0.001000	0.08648	0.052000	0.14988	-0.458000	0.06737	-0.109000	0.12044	-0.251000	0.11542	CAT	CD160-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000038532.2		-	ENST00000369288.2	Missense_Mutation	SNP	1 : 145704275 - 145704275 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	24
SRSF6	6431	broad.mit.edu	37	20	42089353	42089353	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42089353C>T	ENST00000244020.3	+	6	791	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	229	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						TTCCAGGTCGCGGAGCAAAGG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	55	57			NA	NA	20		NA											NA				42089353		2203	4300	6503	SO:0001583	missense			U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193	6431	6431		Serine/arginine-rich splicing factors, RNA binding motif (RRM) containing	10788	protein-coding gene	gene with protein product	pre-mRNA splicing factor SRP55, SR splicing factor 6	601944	splicing factor, arginine/serine-rich 6	SFRS6	NA	7556075, 20516191	Standard	NM_006275	NM_006275	NA	Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.685C>T	20.37:g.42089353C>T	ENSP00000244020:p.Arg229Trp	NA	B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	37	CCDS13318.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.152134	0.38021	.	.	ENSG00000124193	ENST00000244020	T	0.17213	2.29	5.97	5.01	0.66863	.	0.000000	0.64402	D	0.000002	T	0.42494	0.1205	M	0.78456	2.415	0.51482	D	0.999929	D	0.89917	1.0	D	0.77557	0.99	T	0.41680	-0.9495	10	0.72032	D	0.01	.	13.0512	0.58957	0.2927:0.7073:0.0:0.0	.	229	Q13247	SRSF6_HUMAN	W	229	ENSP00000244020:R229W	ENSP00000244020:R229W	R	+	1	2	SRSF6	41522767	0.892000	0.30473	0.718000	0.30602	0.803000	0.45373	1.135000	0.31454	1.489000	0.48450	0.585000	0.79938	CGG	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079292.1		+	ENST00000244020.3	Missense_Mutation	SNP	20 : 42089353 - 42089353 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	54
CSMD1	64478	broad.mit.edu	37	8	3216710	3216710	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:3216710G>A	ENST00000602557.1	-	22	3826	c.3271C>T	c.(3271-3273)Cgc>Tgc	p.R1091C	CSMD1_ENST00000542608.1_Missense_Mutation_p.R1090C|CSMD1_ENST00000602723.1_Missense_Mutation_p.R1091C|CSMD1_ENST00000537824.1_Missense_Mutation_p.R1090C|CSMD1_ENST00000520002.1_Missense_Mutation_p.R1091C|CSMD1_ENST00000539096.1_Missense_Mutation_p.R1090C|CSMD1_ENST00000400186.3_Missense_Mutation_p.R1091C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1091	Sushi 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CACACACGGCGGCCCCCACCC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	74	72			NA	NA	8		NA											NA				3216710		2203	4300	6503	SO:0001583	missense					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117	64478	64478		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	14026	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 24	608397			NA		Standard	NM_033225	NM_033225	NA	Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000602557.1:c.3271C>T	8.37:g.3216710G>A	ENSP00000473359:p.Arg1091Cys	NA	Q0H0J5|Q96QU9|Q96RM4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	22.7|22.7	4.320993|4.320993	0.81580|0.81580	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|T;T;T;T;T	.|0.65364	.|-0.15;-0.15;-0.15;-0.15;-0.15	5.34|5.34	5.34|5.34	0.76211|0.76211	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.84683|0.84683	0.5526|0.5526	M|M	0.92367|0.92367	3.3|3.3	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.998;1.0;1.0	D|D	0.88420|0.88420	0.3028|0.3028	5|10	.|0.87932	.|D	.|0	.|.	19.067|19.067	0.93116|0.93116	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1091;1091;1091	.|E5RIG2;Q96PZ7;Q96PZ7-4	.|.;CSMD1_HUMAN;.	L|C	570|1091;1091;953;1090;1090;1090	.|ENSP00000383047:R1091C;ENSP00000430733:R1091C;ENSP00000441462:R1090C;ENSP00000446243:R1090C;ENSP00000441675:R1090C	.|ENSP00000320445:R953C	P|R	-|-	2|1	0|0	CSMD1|CSMD1	3204117|3204117	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	6.104000|6.104000	0.71498|0.71498	2.489000|2.489000	0.83994|0.83994	0.550000|0.550000	0.68814|0.68814	CCG|CGC	CSMD1-017	NOVEL	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000467636.1		-	ENST00000602557.1	Missense_Mutation	SNP	8 : 3216710 - 3216710 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	601	101
ATP8A1	10396	broad.mit.edu	37	4	42581869	42581869	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42581869G>A	ENST00000381668.5	-	11	1192	c.961C>T	c.(961-963)Cga>Tga	p.R321*	ATP8A1_ENST00000264449.10_Nonsense_Mutation_p.R321*	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	321					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GAATGCCTTCGATTCCAAATG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	74	74			NA	NA	4		NA											NA				42581869		2203	4300	6503	SO:0001587	stop_gained			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406	10396	10396		ATPases / P-type	13531	protein-coding gene	gene with protein product		609542	ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1		NA	10198212, 9548971	Standard	NM_006095	NM_006095	NA	Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.961C>T	4.37:g.42581869G>A	ENSP00000371084:p.Arg321*	NA	Q32M36|Q4W5J7|Q4W5P2	37	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	G	39	7.732964	0.98459	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	.	.	.	5.86	5.02	0.67125	.	0.232071	0.39083	N	0.001465	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	10.6965	0.45903	0.0681:0.1329:0.799:0.0	.	.	.	.	X	321	.	ENSP00000264449:R321X	R	-	1	2	ATP8A1	42276626	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	2.511000	0.45476	1.604000	0.50143	-0.182000	0.12963	CGA	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216861.2		-	ENST00000381668.5	Nonsense_Mutation	SNP	4 : 42581869 - 42581869 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	63
SLC41A3	54946	broad.mit.edu	37	3	125725383	125725383	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125725383G>T	ENST00000315891.6	-	12	1629	c.1391C>A	c.(1390-1392)gCt>gAt	p.A464D	SLC41A3_ENST00000360370.4_3'UTR|SLC41A3_ENST00000383598.2_3'UTR|SLC41A3_ENST00000346785.5_Missense_Mutation_p.A428D	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	464						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		TGGCACAGCAGCAGTGTGGCC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	55	56			NA	NA	3		NA											NA				125725383		2203	4300	6503	SO:0001583	missense				CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544	54946	54946		Solute carriers	31046	protein-coding gene	gene with protein product		610803			NA		Standard	NM_017836	NM_001164475	NA	Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.1391C>A	3.37:g.125725383G>T	ENSP00000326070:p.Ala464Asp	NA	A6ND60|B3KSD9|C9JE96|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	37	CCDS33843.1	.	.	.	.	.	.	.	.	.	.	G	6.654	0.489118	0.12641	.	.	ENSG00000114544	ENST00000346785;ENST00000315891	T;T	0.34472	1.36;1.36	3.69	-0.323	0.12709	.	.	.	.	.	T	0.12603	0.0306	N	0.08118	0	0.09310	N	1	B;B	0.22414	0.069;0.041	B;B	0.18871	0.023;0.015	T	0.30238	-0.9985	9	0.05525	T	0.97	-3.3093	3.513	0.07714	0.2091:0.0:0.5062:0.2847	.	428;464	Q96GZ6-3;Q96GZ6	.;S41A3_HUMAN	D	428;464	ENSP00000264471:A428D;ENSP00000326070:A464D	ENSP00000326070:A464D	A	-	2	0	SLC41A3	127208073	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.395000	0.07287	-0.081000	0.12662	-0.948000	0.02665	GCT	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370886.1		-	ENST00000315891.6	Missense_Mutation	SNP	3 : 125725383 - 125725383 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	222	41
KIAA1430	0	broad.mit.edu	37	4	186111567	186111567	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186111567C>A	ENST00000458385.2	-	2	903	c.784G>T	c.(784-786)Gac>Tac	p.D262Y	KIAA1430_ENST00000514798.1_Missense_Mutation_p.D262Y|KIAA1430_ENST00000296775.6_Missense_Mutation_p.D262Y	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		262										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		GGGCTAATGTCTGGAGTTGAT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	92	96			NA	NA	4		NA											NA				186111567		1884	4107	5991	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000458385.2:c.784G>T	4.37:g.186111567C>A	ENSP00000409964:p.Asp262Tyr	NA	B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	37	CCDS47168.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777121	0.70107	.	.	ENSG00000164323	ENST00000458385;ENST00000514798;ENST00000296775	T;T;T	0.60920	0.7;0.15;0.15	5.55	5.55	0.83447	.	0.065347	0.64402	D	0.000013	T	0.77039	0.4072	M	0.72894	2.215	0.50467	D	0.999878	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.78285	-0.2263	10	0.87932	D	0	-15.6196	19.8686	0.96842	0.0:1.0:0.0:0.0	.	262;262	Q9P2B7-2;Q9P2B7	.;K1430_HUMAN	Y	262	ENSP00000409964:D262Y;ENSP00000423312:D262Y;ENSP00000296775:D262Y	ENSP00000296775:D262Y	D	-	1	0	KIAA1430	186348561	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	6.228000	0.72288	2.768000	0.95171	0.655000	0.94253	GAC	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360717.2		-	ENST00000458385.2	Missense_Mutation	SNP	4 : 186111567 - 186111567 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	134	32
SNAP91	9892	broad.mit.edu	37	6	84311055	84311055	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84311055G>A	ENST00000521485.1	-	16	1654	c.1259C>T	c.(1258-1260)gCc>gTc	p.A420V	SNAP91_ENST00000195649.6_Missense_Mutation_p.A420V|SNAP91_ENST00000428679.2_Missense_Mutation_p.A420V|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000521743.1_Missense_Mutation_p.A420V|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000520302.1_Missense_Mutation_p.A418V|SNAP91_ENST00000439399.2_Missense_Mutation_p.A420V|SNAP91_ENST00000369694.2_Missense_Mutation_p.A420V			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	420	Ala-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AGAAGCTGAGGCAGTTGCAAT	0.463		NA											G	1	5e-04	NA	NA	2184	NA	0.9998	,	,	NA	2e-04	0.0013	NA	NA	6e-04	0.8338	LOWCOV,EXOME	NA	NA	0.0015	SNP								NA				0													103	103	103			NA	NA	6		NA											NA				84311055		1959	4148	6107	SO:0001583	missense			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609	9892	9892			14986	protein-coding gene	gene with protein product		607923	synaptosomal-associated protein, 91 kDa (mouse) homolog, synaptosomal-associated protein, 91kDa homolog (mouse)		NA	9734811, 12493563, 10436022	Standard		NM_014841	NA	Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000521485.1:c.1259C>T	6.37:g.84311055G>A	ENSP00000429776:p.Ala420Val	NA	A8K0L7|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	37		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.37	2.516264	0.44763	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000520302;ENST00000521743;ENST00000447888	T;T;T;T;T;T;T	0.16324	2.38;2.38;2.38;2.38;2.35;2.37;2.38	5.46	5.46	0.80206	.	0.531595	0.22220	N	0.062961	T	0.06462	0.0166	L	0.36672	1.1	0.80722	D	1	B;B;B	0.34103	0.437;0.437;0.025	B;B;B	0.24541	0.037;0.054;0.021	T	0.21965	-1.0230	10	0.18276	T	0.48	-4.3839	17.8828	0.88845	0.0:0.0:1.0:0.0	.	418;420;418	E5RI02;O60641;E1P549	.;AP180_HUMAN;.	V	420;420;420;420;420;418;420;146	ENSP00000429776:A420V;ENSP00000358708:A420V;ENSP00000400459:A420V;ENSP00000195649:A420V;ENSP00000412492:A420V;ENSP00000428511:A418V;ENSP00000428215:A420V	ENSP00000195649:A420V	A	-	2	0	SNAP91	84367774	1.000000	0.71417	0.998000	0.56505	0.317000	0.28152	8.735000	0.91549	2.570000	0.86706	0.563000	0.77884	GCC	SNAP91-002	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000041354.2		-	ENST00000521485.1	Missense_Mutation	SNP	6 : 84311055 - 84311055 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	164	33
LRRC6	23639	broad.mit.edu	37	8	133627315	133627315	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133627315T>G	ENST00000518642.1	-	8	1008	c.943A>C	c.(943-945)Aag>Cag	p.K315Q	LRRC6_ENST00000519595.1_Missense_Mutation_p.K315Q|LRRC6_ENST00000250173.1_Missense_Mutation_p.K315Q			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	315	CS.					cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ATGATCTGCTTTTCGTTATCT	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	84	83			NA	NA	8		NA											NA				133627315		2202	4294	6496	SO:0001583	missense			U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295	23639	23639			16725	protein-coding gene	gene with protein product	leucine rich testes protein	614930			NA	10775177, 23122586	Standard	NM_012472	NM_012472	NA	Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000518642.1:c.943A>C	8.37:g.133627315T>G	ENSP00000428610:p.Lys315Gln	NA	Q13648|Q4G183	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.38|10.38	1.334786|1.334786	0.24253|0.24253	.|.	.|.	ENSG00000129295|ENSG00000129295	ENST00000519595;ENST00000518642;ENST00000250173;ENST00000395414|ENST00000519085	T;T;T|.	0.50813|.	0.73;0.95;0.73|.	4.93|4.93	2.54|2.54	0.30619|0.30619	CS-like domain (1);|.	0.318240|0.318240	0.35436|0.35436	N|N	0.003212|0.003212	T|T	0.41096|0.41096	0.1144|0.1144	L|L	0.58669|0.58669	1.825|1.825	0.21499|0.21499	N|N	0.999661|0.999661	P|.	0.42735|.	0.788|.	B|.	0.24006|.	0.05|.	T|T	0.21075|0.21075	-1.0256|-1.0256	10|6	0.41790|.	T|.	0.15|.	-18.0453|-18.0453	5.7871|5.7871	0.18338|0.18338	0.0:0.2776:0.0:0.7224|0.0:0.2776:0.0:0.7224	.|.	315|.	Q86X45|.	LRRC6_HUMAN|.	Q|T	315|36	ENSP00000429791:K315Q;ENSP00000428610:K315Q;ENSP00000250173:K315Q|.	ENSP00000250173:K315Q|.	K|K	-|-	1|2	0|0	LRRC6|LRRC6	133696497|133696497	1.000000|1.000000	0.71417|0.71417	0.850000|0.850000	0.33497|0.33497	0.664000|0.664000	0.39144|0.39144	1.613000|1.613000	0.36900|0.36900	0.831000|0.831000	0.34780|0.34780	0.460000|0.460000	0.39030|0.39030	AAG|AAA	LRRC6-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000379580.1		-	ENST00000518642.1	Missense_Mutation	SNP	8 : 133627315 - 133627315 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	341	67
NUP210	23225	broad.mit.edu	37	3	13361358	13361358	+	Missense_Mutation	SNP	G	G	A	rs145275394		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:13361358G>A	ENST00000254508.5	-	37	5370	c.5288C>T	c.(5287-5289)tCc>tTc	p.S1763F		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1763					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CAGGGTAGTGGACAGAGGCCC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	70	72			NA	NA	3		NA											NA				13361358		2203	4300	6503	SO:0001583	missense			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182	23225	23225			30052	protein-coding gene	gene with protein product		607703			NA	2184032, 7504063	Standard	NM_024923	NM_024923	NA	Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.5288C>T	3.37:g.13361358G>A	ENSP00000254508:p.Ser1763Phe	NA	A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	37	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.953438	0.53293	.	.	ENSG00000132182	ENST00000254508	T	0.05855	3.38	5.66	4.79	0.61399	.	0.064020	0.64402	D	0.000005	T	0.11153	0.0272	M	0.72118	2.19	0.53005	D	0.999968	P	0.35656	0.514	B	0.34590	0.186	T	0.01786	-1.1274	10	0.66056	D	0.02	-31.8634	14.5805	0.68284	0.0699:0.0:0.9301:0.0	.	1763	Q8TEM1	PO210_HUMAN	F	1763	ENSP00000254508:S1763F	ENSP00000254508:S1763F	S	-	2	0	NUP210	13336358	1.000000	0.71417	0.997000	0.53966	0.729000	0.41735	8.986000	0.93492	1.400000	0.46741	-0.136000	0.14681	TCC	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340085.1		-	ENST00000254508.5	Missense_Mutation	SNP	3 : 13361358 - 13361358 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	408	66
GFRA1	2674	broad.mit.edu	37	10	117856270	117856270	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:117856270C>T	ENST00000369236.1	-	5	1013	c.761G>A	c.(760-762)cGc>cAc	p.R254H	GFRA1_ENST00000439649.3_Missense_Mutation_p.R254H|GFRA1_ENST00000355422.6_Missense_Mutation_p.R259H|GFRA1_ENST00000544592.1_Missense_Mutation_p.R138H	NM_145793.3	NP_665736.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	259					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		ATCCGCAAGGCGAGATCTACA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(128;329 1725 45498 46808 50759)							NA				0													34	37	36			NA	NA	10		NA											NA				117856270		2203	4300	6503	SO:0001583	missense			AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892	2674	2674			4243	protein-coding gene	gene with protein product		601496		GDNFRA	NA	9465905, 9545641	Standard	NM_145793	NM_005264	NA	Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000369236.1:c.761G>A	10.37:g.117856270C>T	ENSP00000358239:p.Arg254His	NA	A8KA21|O15507|O43912	37	CCDS7593.1	.	.	.	.	.	.	.	.	.	.	C	35	5.413916	0.96072	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000544592;ENST00000369234	T;T	0.64085	-0.08;-0.08	5.93	5.93	0.95920	GDNF/GAS1 (2);	0.048834	0.85682	D	0.000000	T	0.79215	0.4408	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68483	0.958;0.941	T	0.78773	-0.2073	10	0.52906	T	0.07	-33.882	18.5344	0.91004	0.0:1.0:0.0:0.0	.	259;254	P56159;P56159-2	GFRA1_HUMAN;.	H	259;254;254;138;254	ENSP00000358239:R254H;ENSP00000442179:R138H	ENSP00000347591:R254H	R	-	2	0	GFRA1	117846260	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.420000	0.80191	2.826000	0.97356	0.655000	0.94253	CGC	GFRA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050511.1		-	ENST00000369236.1	Missense_Mutation	SNP	10 : 117856270 - 117856270 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	94	18
DHODH	1723	broad.mit.edu	37	16	72055168	72055168	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72055168G>A	ENST00000572887.1	+	5	840	c.663G>A	c.(661-663)cgG>cgA	p.R221R	DHODH_ENST00000219240.4_Silent_p.R221R|DHODH_ENST00000573922.1_Intron			Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	221					'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	CCGGGCTGCGGAGCCTTCAGG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	28	26			NA	NA	16		NA											NA				72055168		2046	4177	6223	SO:0001819	synonymous_variant				CCDS42192.1	16q22.2	2012-10-02	2011-09-05		ENSG00000102967	ENSG00000102967	1723	1723	1.3.5.2		2867	protein-coding gene	gene with protein product		126064	dihydroorotate dehydrogenase		NA	8211381	Standard	NM_001361	NM_001361	NA	Approved		uc002fbp.3	Q02127	OTTHUMG00000178093	ENST00000572887.1:c.663G>A	16.37:g.72055168G>A		NA	A8K8C8|Q6P176	37																																																																																				DHODH-002	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000440470.2		+	ENST00000572887.1	Silent	SNP	16 : 72055168 - 72055168 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	124	14
ZSCAN9	7746	broad.mit.edu	37	6	28195209	28195209	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28195209G>A	ENST00000425468.2	+	2	512	c.347G>A	c.(346-348)tGt>tAt	p.C116Y	ZSCAN9_ENST00000531979.1_Missense_Mutation_p.C116Y|ZSCAN9_ENST00000531981.1_Missense_Mutation_p.C116Y|ZSCAN9_ENST00000252207.5_Missense_Mutation_p.C116Y|ZSCAN9_ENST00000527436.1_Missense_Mutation_p.C116Y	NM_001199479.1	NP_001186408.1			zinc finger and SCAN domain containing 9	NA											NA						AGGGAACACTGTCCAGAGAGT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	54	54			NA	NA	6		NA											NA				28195209		2203	4300	6503	SO:0001583	missense			U62392	CCDS4646.1, CCDS56407.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000137185	ENSG00000137185	7746	7746		-, Zinc fingers, C2H2-type	12984	protein-coding gene	gene with protein product		602246	zinc finger protein 193	ZNF193	NA		Standard	NM_006299	NM_001199479	NA	Approved	PRD51	uc003nkq.2	O15535	OTTHUMG00000014515	ENST00000425468.2:c.347G>A	6.37:g.28195209G>A	ENSP00000404074:p.Cys116Tyr	NA		37	CCDS56407.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777906	0.31502	.	.	ENSG00000137185	ENST00000425468;ENST00000252207;ENST00000531979;ENST00000527436;ENST00000527844	T;T;T;T;T	0.05319	3.46;3.46;3.46;3.46;3.46	3.39	-0.428	0.12306	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.01940	0.0061	L	0.39326	1.205	0.09310	N	1	P;D	0.53619	0.936;0.961	P;P	0.51079	0.658;0.561	T	0.14811	-1.0459	9	0.05620	T	0.96	.	6.0202	0.19625	0.508:0.0:0.492:0.0	.	116;116	E7EVQ2;O15535	.;ZN193_HUMAN	Y	116	ENSP00000404074:C116Y;ENSP00000252207:C116Y;ENSP00000433402:C116Y;ENSP00000433468:C116Y;ENSP00000436166:C116Y	ENSP00000252207:C116Y	C	+	2	0	ZNF193	28303188	0.000000	0.05858	0.011000	0.14972	0.927000	0.56198	-0.174000	0.09839	-0.114000	0.11936	0.561000	0.74099	TGT	ZSCAN9-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383022.1		+	ENST00000425468.2	Missense_Mutation	SNP	6 : 28195209 - 28195209 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	262	41
ARIH1	25820	broad.mit.edu	37	15	72853880	72853880	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72853880G>T	ENST00000379887.4	+	6	1108	c.794G>T	c.(793-795)aGc>aTc	p.S265I		NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	265					ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						ATAACAAATAGCTTTGTAGAG	0.259		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	41	40			NA	NA	15		NA											NA				72853880		2195	4290	6485	SO:0001583	missense			AF072832	CCDS10244.1	15q24	2013-10-03	2013-10-03		ENSG00000166233	ENSG00000166233	25820	25820			689	protein-coding gene	gene with protein product	ariadne, Drosophila, homolog of	605624	ariadne (Drosophila) homolog, ubiquitin-conjugating enzyme E2-binding protein, 1, ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)		NA	10521492, 24058416	Standard	NM_005744	NM_005744	NA	Approved	HARI, HHARI, UBCH7BP, ARI	uc002aut.4	Q9Y4X5	OTTHUMG00000133474	ENST00000379887.4:c.794G>T	15.37:g.72853880G>T	ENSP00000369217:p.Ser265Ile	NA	B2R6U3|O76026|Q9H3T6|Q9UEN0|Q9UP39	37	CCDS10244.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937987	0.92526	.	.	ENSG00000166233	ENST00000379887;ENST00000299305	T	0.81247	-1.47	5.52	5.52	0.82312	Zinc finger, C6HC-type (2);	0.000000	0.85682	D	0.000000	D	0.91469	0.7307	M	0.88241	2.94	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	D	0.92459	0.5976	10	0.87932	D	0	.	19.4279	0.94751	0.0:0.0:1.0:0.0	.	265	Q9Y4X5	ARI1_HUMAN	I	265;235	ENSP00000369217:S265I	ENSP00000299305:S235I	S	+	2	0	ARIH1	70640934	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.419000	0.97397	2.765000	0.95021	0.650000	0.86243	AGC	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257350.1		+	ENST00000379887.4	Missense_Mutation	SNP	15 : 72853880 - 72853880 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	180	27
PCLO	27445	broad.mit.edu	37	7	82583261	82583261	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82583261G>A	ENST00000333891.9	-	5	7345	c.7008C>T	c.(7006-7008)tcC>tcT	p.S2336S	PCLO_ENST00000423517.2_Silent_p.S2336S	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	NA	Poly-Pro.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACACGGTTTCGGATAAGCTAC	0.428		NA											G	1	5e-04	0.002	NA	2184	NA	0.9989	,	,	NA	5e-04	NA	NA	NA	9e-04	0.6225	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0								G	,	2,3710		0,2,1854	103	104	104		7008,7008	-5.3	0	7		104	0,8200		0,0,4100	no	coding-synonymous,coding-synonymous	PCLO	NM_014510.2,NM_033026.5	,	0,2,5954	AA,AG,GG	NA	0.0,0.0539,0.0168	,	2336/4936,2336/5143	82583261	2,11910	1856	4100	5956	SO:0001819	synonymous_variant			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472	27445	27445			13406	protein-coding gene	gene with protein product	aczonin	604918	piccolo (presynaptic cytomatrix protein)		NA	8900486, 9628581	Standard	NM_014510	NM_014510	NA	Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.7008C>T	7.37:g.82583261G>A		NA	A4D1A7|A6NNX9|O43373|O60305|Q08E72|Q9BVC8|Q9UIV2|Q9Y6U9	37	CCDS47630.1																																																																																			PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337368.5		-	ENST00000333891.9	Silent	SNP	7 : 82583261 - 82583261 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	697	113
TSN	7247	broad.mit.edu	37	2	122522723	122522723	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:122522723T>C	ENST00000409193.1	+	6	922	c.452T>C	c.(451-453)gTc>gCc	p.V151A	TSN_ENST00000536142.1_Silent_p.C129C|TSN_ENST00000389682.3_Missense_Mutation_p.V156A|TSN_ENST00000498545.1_3'UTR			Q15631	TSN_HUMAN	translin	156					DNA recombination	cytoplasm|nucleus	sequence-specific DNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12		Ovarian(717;0.0563)|Prostate(154;0.116)				AGGCTGTCTGTCAACAGCGTG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													235	238	237			NA	NA	2		NA											NA				122522723		2203	4300	6503	SO:0001583	missense			X78627	CCDS33284.1, CCDS58723.1	2q21.1	2008-05-23			ENSG00000211460	ENSG00000211460	7247	7247			12379	protein-coding gene	gene with protein product	recombination hotspot associated factor	600575			NA	7947454, 9244443	Standard	NM_004622	NM_004622	NA	Approved	TRSLN, BCLF-1, REHF-1	uc002tnl.3	Q15631	OTTHUMG00000153334	ENST00000409193.1:c.452T>C	2.37:g.122522723T>C	ENSP00000387263:p.Val151Ala	NA	Q5U0K7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.6|23.6	4.436439|4.436439	0.83885|0.83885	.|.	.|.	ENSG00000211460|ENSG00000211460	ENST00000455432|ENST00000389682;ENST00000413418;ENST00000409193	.|.	.|.	.|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|Translin, C-terminal (1);	.|0.055540	.|0.64402	.|D	.|0.000001	D|D	0.84750|0.84750	0.5541|0.5541	M|M	0.89601|0.89601	3.045|3.045	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.81914	.|0.99;0.995	D|D	0.87835|0.87835	0.2647|0.2647	5|9	.|0.72032	.|D	.|0.01	-3.0948|-3.0948	15.3851|15.3851	0.74691|0.74691	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|109;156	.|B3KRM8;Q15631	.|.;TSN_HUMAN	P|A	162|156;122;151	.|.	.|ENSP00000374332:V156A	S|V	+|+	1|2	0|0	TSN|TSN	122239193|122239193	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.766000|0.766000	0.43426|0.43426	7.675000|7.675000	0.84002|0.84002	2.288000|2.288000	0.76882|0.76882	0.533000|0.533000	0.62120|0.62120	TCA|GTC	TSN-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000330773.1		+	ENST00000409193.1	Missense_Mutation	SNP	2 : 122522723 - 122522723 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1923	186
USP6	9098	broad.mit.edu	37	17	5042898	5042898	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5042898G>A	ENST00000574788.1	+	22	3657	c.1427G>A	c.(1426-1428)aGc>aAc	p.S476N	USP6_ENST00000332776.4_Missense_Mutation_p.S476N|USP6_ENST00000304328.5_Missense_Mutation_p.S159N|USP6_ENST00000250066.6_Missense_Mutation_p.S476N			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	476					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTTGAATGGAGCTGCTGGGTC	0.592		NA	T	COL1A1, CDH11, ZNF9, OMD	aneurysmal bone cysts									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0													47	52	51			NA	NA	17		NA											NA				5042898		2203	4300	6503	SO:0001583	missense			X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	9098	9098	3.4.19.12	Ubiquitin-specific peptidases	12629	protein-coding gene	gene with protein product	ubiquitin carboxyl-terminal hydrolase 6, TBC1D3 and USP32 fusion, Tre-2 oncogene	604334	ubiquitin specific protease 6 (Tre-2 oncogene), TRE oncogene, Smith Magenis syndrome chromosome region, ubiquitin specific peptidase 6 (Tre-2 oncogene)	HRP1, TRESMCR	NA	12838346, 1349106	Standard	NM_004505	NM_004505	NA	Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.1427G>A	17.37:g.5042898G>A	ENSP00000460380:p.Ser476Asn	NA	Q15634|Q86WP6|Q8IWT4	37	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	G	9.053	0.992452	0.18966	.	.	ENSG00000129204	ENST00000332776;ENST00000250066;ENST00000304328	T;T;T	0.17213	2.44;2.91;2.29	0.266	0.266	0.15617	.	0.110616	0.64402	D	0.000003	T	0.13670	0.0331	L	0.27053	0.805	0.09310	N	1	B;B	0.33000	0.393;0.273	B;B	0.42319	0.383;0.213	T	0.18840	-1.0324	9	0.54805	T	0.06	.	.	.	.	.	159;476	P35125-2;P35125	.;UBP6_HUMAN	N	476;476;159	ENSP00000328010:S476N;ENSP00000250066:S476N;ENSP00000305473:S159N	ENSP00000250066:S476N	S	+	2	0	USP6	4983622	0.463000	0.25799	0.029000	0.17559	0.028000	0.11728	1.033000	0.30191	0.390000	0.25115	0.391000	0.25812	AGC	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438990.1		+	ENST00000574788.1	Missense_Mutation	SNP	17 : 5042898 - 5042898 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	78
GTDC1	79712	broad.mit.edu	37	2	144764985	144764985	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:144764985A>G	ENST00000392869.2	-	6	791	c.639T>C	c.(637-639)gaT>gaC	p.D213D	GTDC1_ENST00000241391.5_Silent_p.D213D|GTDC1_ENST00000392867.3_Silent_p.D213D|GTDC1_ENST00000409298.1_Intron|GTDC1_ENST00000542155.1_Silent_p.D213D|GTDC1_ENST00000463875.2_Silent_p.D84D|GTDC1_ENST00000344850.4_Silent_p.D213D|GTDC1_ENST00000409214.1_Silent_p.D213D	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	NA					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TCTTCAATAAATCCTCTGAAT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	81	81			NA	NA	2		NA											NA				144764985		2203	4300	6503	SO:0001819	synonymous_variant			AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964	79712	79712		Glycosyltransferase group 1 domain containing	20887	protein-coding gene	gene with protein product	mannosyltransferase-like	610165			NA	15068588, 21821951	Standard	NM_024659	NM_024659	NA	Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.639T>C	2.37:g.144764985A>G		NA	A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	37	CCDS33300.1																																																																																			GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254779.2		-	ENST00000392869.2	Silent	SNP	2 : 144764985 - 144764985 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	433	41
TLR9	54106	broad.mit.edu	37	3	52256063	52256063	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52256063C>T	ENST00000494383.1	-	5	2728	c.2729G>A	c.(2728-2730)tGt>tAt	p.C910Y	TLR9_ENST00000360658.2_Missense_Mutation_p.V757I|TLR9_ENST00000597542.1_Missense_Mutation_p.V781I			Q9NR96	TLR9_HUMAN	toll-like receptor 9	0	TIR.				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TTGGCGCTTACATCTAGTATT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	54	54			NA	NA	3		NA											NA				52256063		2203	4300	6503	SO:0001583	missense			AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732	54106	54106		CD molecules	15633	protein-coding gene	gene with protein product		605474			NA	11022119	Standard		NM_017442	NA	Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000494383.1:c.2729G>A	3.37:g.52256063C>T	ENSP00000417517:p.Cys910Tyr	NA	B3Y661|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.78|11.78	1.740014|1.740014	0.30865|0.30865	.|.	.|.	ENSG00000173366|ENSG00000239732	ENST00000494383|ENST00000360658	.|T	.|0.56275	.|0.47	5.14|5.14	4.14|4.14	0.48551|0.48551	.|.	.|0.000000	.|0.33938	.|N	.|0.004413	T|T	0.26195|0.26195	0.0639|0.0639	N|N	0.03608|0.03608	-0.345|-0.345	0.24419|0.24419	N|N	0.994621|0.994621	.|B;P	.|0.38148	.|0.114;0.62	.|B;B	.|0.36092	.|0.055;0.217	T|T	0.10520|0.10520	-1.0626|-1.0626	5|10	.|0.44086	.|T	.|0.13	.|.	8.2711|8.2711	0.31844|0.31844	0.0:0.8511:0.0:0.1489|0.0:0.8511:0.0:0.1489	.|.	.|854;757	.|B4E0A1;Q9NR96	.|.;TLR9_HUMAN	Y|I	910|757	.|ENSP00000353874:V757I	.|ENSP00000353874:V757I	C|V	-|-	2|1	0|0	RP11-330H6.5|TLR9	52231103|52231103	0.003000|0.003000	0.15002|0.15002	0.255000|0.255000	0.24374|0.24374	0.066000|0.066000	0.16364|0.16364	-0.002000|-0.002000	0.12924|0.12924	2.387000|2.387000	0.81309|0.81309	0.462000|0.462000	0.41574|0.41574	TGT|GTA	TLR9-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000367019.1		-	ENST00000494383.1	Missense_Mutation	SNP	3 : 52256063 - 52256063 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	499	79
LDLRAP1	26119	broad.mit.edu	37	1	25893459	25893459	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25893459G>T	ENST00000374338.4	+	9	1022	c.903G>T	c.(901-903)gaG>gaT	p.E301D	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	301					amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		GCGGCACAGAGCAGGATGACC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	36	38			NA	NA	1		NA											NA				25893459		2203	4300	6503	SO:0001583	missense			BC029770	CCDS30639.1	1p36-p35	2014-09-17			ENSG00000157978	ENSG00000157978	26119	26119			18640	protein-coding gene	gene with protein product		605747			NA		Standard	NM_015627	NM_015627	NA	Approved	ARH, ARH2, FHCB1, FHCB2, MGC34705, DKFZp586D0624	uc001bkl.4	Q5SW96	OTTHUMG00000007386	ENST00000374338.4:c.903G>T	1.37:g.25893459G>T	ENSP00000363458:p.Glu301Asp	NA	A2BHI5|Q6TQS9|Q8N2Y0|Q9UFI9	37	CCDS30639.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591921	0.28357	.	.	ENSG00000157978	ENST00000374338	T	0.56611	0.45	5.54	-1.66	0.08265	.	0.494512	0.22727	N	0.056372	T	0.27559	0.0677	L	0.27053	0.805	0.26597	N	0.973083	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.04509	-1.0946	10	0.25106	T	0.35	-20.2171	1.3273	0.02128	0.2906:0.2337:0.3498:0.126	.	301;301	B3KR97;Q5SW96	.;ARH_HUMAN	D	301	ENSP00000363458:E301D	ENSP00000363458:E301D	E	+	3	2	LDLRAP1	25766046	0.200000	0.23398	0.971000	0.41717	0.669000	0.39330	0.247000	0.18179	0.003000	0.14656	0.561000	0.74099	GAG	LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019350.3		+	ENST00000374338.4	Missense_Mutation	SNP	1 : 25893459 - 25893459 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	264	18
MC4R	4160	broad.mit.edu	37	18	58038647	58038647	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:58038647G>A	ENST00000299766.3	-	1	1354	c.936C>T	c.(934-936)acC>acT	p.T312T		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	312					feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				TCTCTTTGAAGGTTTTCCTCA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	124	127			NA	NA	18		NA											NA				58038647		2203	4300	6503	SO:0001819	synonymous_variant			AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603	4160	4160		GPCR / Class A : Melanocortin receptors	6932	protein-coding gene	gene with protein product		155541			NA	7949735, 9763669	Standard	NM_005912	NM_005912	NA	Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.936C>T	18.37:g.58038647G>A		NA	B2RAC3|Q16317|Q3MIJ6	37	CCDS11976.1																																																																																			MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256139.1		-	ENST00000299766.3	Silent	SNP	18 : 58038647 - 58038647 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	509	90
NUDT16	131870	broad.mit.edu	37	3	131102014	131102014	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:131102014C>T	ENST00000521288.1	+	3	448	c.417C>T	c.(415-417)ggC>ggT	p.G139G	NUDT16_ENST00000359850.3_Silent_p.G106G|NUDT16_ENST00000502852.1_3'UTR|NUDT16_ENST00000537561.1_Silent_p.G93G			Q96DE0	NUD16_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16	139	Nudix hydrolase.					nucleolus|nucleoplasm	hydrolase activity|metal ion binding|RNA binding			large_intestine(1)|lung(6)	7						AGGTGCTGGGCCTGGTGCGAG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	90	90			NA	NA	3		NA											NA				131102014		2203	4300	6503	SO:0001819	synonymous_variant			AK055827	CCDS3070.1, CCDS3070.2, CCDS54640.1, CCDS54641.1	3q21.3	2005-01-25					131870	131870		Nudix motif containing	26442	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152395	NM_152395	NA	Approved	FLJ31265	uc021xec.1	Q96DE0		ENST00000521288.1:c.417C>T	3.37:g.131102014C>T		NA	Q96N82	37	CCDS3070.2																																																																																			NUDT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356537.9		+	ENST00000521288.1	Silent	SNP	3 : 131102014 - 131102014 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	515	97
ST5	6764	broad.mit.edu	37	11	8717975	8717975	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8717975C>A	ENST00000526099.1	-	15	1932	c.1830G>T	c.(1828-1830)aaG>aaT	p.K610N	ST5_ENST00000530438.1_Splice_Site_p.K677N|ST5_ENST00000313726.6_Splice_Site_p.K1097N|ST5_ENST00000530991.1_Splice_Site_p.K569N|ST5_ENST00000534278.1_Splice_Site_p.K288N|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000534127.1_Splice_Site_p.K1097N|RP11-152H18.3_ENST00000529883.1_RNA|ST5_ENST00000526757.1_Splice_Site_p.K677N|ST5_ENST00000357665.1_Splice_Site_p.K1097N			P78524	ST5_HUMAN	suppression of tumorigenicity 5	1097					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		AAGACTTACCCTTTGCCCGAC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													204	219	214			NA	NA	11		NA											NA				8717975		2201	4296	6497	SO:0001630	splice_region_variant			U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444	6764	6764		DENN/MADD domain containing	11350	protein-coding gene	gene with protein product	DENN/MADD domain containing 2B	140750			NA	1390339	Standard	NM_005418	NM_005418	NA	Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000526099.1:c.1831+1G>T	11.37:g.8717975C>A		NA	B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	37		.	.	.	.	.	.	.	.	.	.	C	16.15	3.042502	0.55003	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000534278;ENST00000530438	T;T;T;T;T;T;T;T	0.14640	3.0;3.3;3.3;3.01;3.3;3.0;2.49;3.0	5.87	4.01	0.46588	.	0.000000	0.85682	D	0.000000	T	0.25419	0.0618	L	0.52573	1.65	0.58432	D	0.999999	D;B;P	0.69078	0.997;0.389;0.63	D;B;B	0.64687	0.928;0.274;0.358	T	0.01059	-1.1465	10	0.87932	D	0	-16.4162	7.2537	0.26164	0.0:0.6408:0.0:0.3592	.	610;677;1097	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	N	677;1097;1097;569;1097;610;288;677	ENSP00000435097:K677N;ENSP00000433528:K1097N;ENSP00000319678:K1097N;ENSP00000432887:K569N;ENSP00000350294:K1097N;ENSP00000436808:K610N;ENSP00000433349:K288N;ENSP00000436802:K677N	ENSP00000319678:K1097N	K	-	3	2	ST5	8674551	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.892000	0.39748	0.841000	0.35020	-0.140000	0.14226	AAG	ST5-009	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000386522.1	Missense_Mutation	-	ENST00000526099.1	Splice_Site	SNP	11 : 8717975 - 8717975 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1789	318
MAP1B	4131	broad.mit.edu	37	5	71495076	71495076	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71495076G>T	ENST00000296755.7	+	5	6192	c.5894G>T	c.(5893-5895)aGc>aTc	p.S1965I		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(17;367 822 11631 31730 47712)							NA				0													64	70	68			NA	NA	5		NA											NA				71495076		2203	4300	6503	SO:0001583	missense			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711	4131	4131			6836	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 102	157129			NA	1881920	Standard	NM_005909	NM_005909	NA	Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5894G>T	5.37:g.71495076G>T	ENSP00000296755:p.Ser1965Ile	NA	A2BDK5	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.737388	0.30774	.	.	ENSG00000131711	ENST00000296755	T	0.03441	3.93	4.98	4.98	0.66077	.	0.086406	0.49305	D	0.000159	T	0.03178	0.0093	N	0.08118	0	0.26955	N	0.965932	B;B	0.28350	0.208;0.044	B;B	0.31390	0.029;0.129	T	0.44817	-0.9303	10	0.46703	T	0.11	-10.5107	16.432	0.83847	0.0:0.0:1.0:0.0	.	1839;1965	A2BDK6;P46821	.;MAP1B_HUMAN	I	1965	ENSP00000296755:S1965I	ENSP00000296755:S1965I	S	+	2	0	MAP1B	71530832	0.003000	0.15002	0.641000	0.29422	0.268000	0.26511	0.619000	0.24388	2.312000	0.78011	0.448000	0.29417	AGC	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000218561.6		+	ENST00000296755.7	Missense_Mutation	SNP	5 : 71495076 - 71495076 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	594	105
ZNF782	158431	broad.mit.edu	37	9	99581773	99581773	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99581773C>T	ENST00000481138.1	-	6	1193	c.532G>A	c.(532-534)Ggc>Agc	p.G178S	ZNF782_ENST00000466833.1_5'UTR|ZNF782_ENST00000535338.1_Missense_Mutation_p.G46S	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TTAGTTCTGCCATCCTTAATA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	78	78			NA	NA	9		NA											NA				99581773		2203	4300	6503	SO:0001583	missense			AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597	158431	158431		Zinc fingers, C2H2-type, -	33110	protein-coding gene	gene with protein product					NA		Standard	NM_001001662	NM_001001662	NA	Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.532G>A	9.37:g.99581773C>T	ENSP00000419397:p.Gly178Ser	NA	B2RNR0	37	CCDS35075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.62|10.62	1.400587|1.400587	0.25291|0.25291	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000481138;ENST00000535338;ENST00000478850|ENST00000289032	T;T;T|.	0.05580|.	3.58;3.42;5.92|.	3.38|3.38	-2.69|-2.69	0.06022|0.06022	.|.	.|.	.|.	.|.	.|.	T|.	0.17066|.	0.0410|.	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B|.	0.09022|.	0.002|.	B|.	0.06405|.	0.002|.	T|.	0.23904|.	-1.0175|.	9|.	0.66056|.	D|.	0.02|.	.|.	1.2202|1.2202	0.01922|0.01922	0.1871:0.3649:0.2541:0.1939|0.1871:0.3649:0.2541:0.1939	.|.	178|.	Q6ZMW2|.	ZN782_HUMAN|.	S|X	178;46;178|166	ENSP00000419397:G178S;ENSP00000440624:G46S;ENSP00000417577:G178S|.	ENSP00000417577:G178S|.	G|W	-|-	1|2	0|0	ZNF782|ZNF782	98621594|98621594	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.104000|0.104000	0.19210|0.19210	-1.035000|-1.035000	0.03564|0.03564	-0.587000|-0.587000	0.05890|0.05890	0.650000|0.650000	0.86243|0.86243	GGC|TGG	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356810.1		-	ENST00000481138.1	Missense_Mutation	SNP	9 : 99581773 - 99581773 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	390	55
SNX5	27131	broad.mit.edu	37	20	17934647	17934647	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:17934647G>T	ENST00000377768.3	-	5	694	c.382C>A	c.(382-384)Ctg>Atg	p.L128M	SNX5_ENST00000483485.1_5'UTR|SNX5_ENST00000377759.4_Missense_Mutation_p.L128M	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	128	PX.				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						TACGCTTCCAGTTCTTGTTTC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													226	216	219			NA	NA	20		NA											NA				17934647		2203	4300	6503	SO:0001583	missense			AF121855	CCDS13130.1	20p11	2008-05-22			ENSG00000089006	ENSG00000089006	27131	27131		Sorting nexins	14969	protein-coding gene	gene with protein product		605937			NA	10600472, 17148574	Standard		NM_152227	NA	Approved		uc002wqc.3	Q9Y5X3	OTTHUMG00000031953	ENST00000377768.3:c.382C>A	20.37:g.17934647G>T	ENSP00000366998:p.Leu128Met	NA	B7ZKN3|D3DW26|Q52LC4|Q9BWP0	37	CCDS13130.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744613	0.69418	.	.	ENSG00000089006	ENST00000377768;ENST00000377759;ENST00000431277;ENST00000419004	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.39	2.41	0.29592	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	D	0.83004	0.5160	M	0.92691	3.335	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.82506	-0.0423	10	0.66056	D	0.02	-18.7303	8.8107	0.34965	0.286:0.0:0.714:0.0	.	149;128	B7Z476;Q9Y5X3	.;SNX5_HUMAN	M	128;128;91;93	ENSP00000366998:L128M;ENSP00000366988:L128M;ENSP00000404448:L91M;ENSP00000406731:L93M	ENSP00000366988:L128M	L	-	1	2	SNX5	17882647	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	3.490000	0.53245	0.360000	0.24265	0.455000	0.32223	CTG	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078137.4		-	ENST00000377768.3	Missense_Mutation	SNP	20 : 17934647 - 17934647 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1397	266
NCOA2	10499	broad.mit.edu	37	8	71041048	71041048	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71041048A>G	ENST00000452400.2	-	17	3673	c.3492T>C	c.(3490-3492)agT>agC	p.S1164S	NCOA2_ENST00000267974.4_Silent_p.S252S	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1164					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GTGTGGCATAACTAGGCCGCT	0.552		NA	T	RUNXBP2, HEY1	AML, Chondrosarcoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	0													112	108	109			NA	NA	8		NA											NA				71041048		1976	4154	6130	SO:0001819	synonymous_variant			X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396	10499	10499		Chromatin-modifying enzymes / K-acetyltransferases, Basic helix-loop-helix proteins	7669	protein-coding gene	gene with protein product		601993			NA	9111344, 8670870	Standard		XM_005251128	NA	Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.3492T>C	8.37:g.71041048A>G		NA	Q14CD2	37	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	A	9.566	1.119824	0.20877	.	.	ENSG00000140396	ENST00000518363	.	.	.	5.78	-4.55	0.03441	.	.	.	.	.	T	0.49541	0.1563	.	.	.	0.58432	D	0.999992	.	.	.	.	.	.	T	0.48603	-0.9021	4	.	.	.	.	7.2136	0.25947	0.2704:0.1034:0.5253:0.1009	.	.	.	.	A	265	.	.	V	-	2	0	NCOA2	71203602	0.002000	0.14202	0.002000	0.10522	0.982000	0.71751	-0.913000	0.04042	-0.794000	0.04468	-0.408000	0.06270	GTT	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379696.1		-	ENST00000452400.2	Silent	SNP	8 : 71041048 - 71041048 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	247	44
DCAF13	25879	broad.mit.edu	37	8	104432575	104432575	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104432575C>T	ENST00000297579.5	+	2	887	c.610C>T	c.(610-612)Cga>Tga	p.R204*	DCAF13_ENST00000521971.1_Nonsense_Mutation_p.R48*|DCAF13_ENST00000519682.1_Nonsense_Mutation_p.R48*|DCAF13_ENST00000521716.1_Nonsense_Mutation_p.R48*|DCAF13_ENST00000521999.1_Intron	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	52					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CAAACTGGAACGAGTATTTGC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	103	106			NA	NA	8		NA											NA				104432575		2203	4300	6503	SO:0001587	stop_gained			AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934	25879	25879		WD repeat domain containing, DDB1 and CUL4 associated factors	24535	protein-coding gene	gene with protein product			WD repeats and SOF1 domain containing	WDSOF1	NA	11042152	Standard	NM_015420	NM_015420	NA	Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000297579.5:c.610C>T	8.37:g.104432575C>T	ENSP00000297579:p.Arg204*	NA	Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	37	CCDS34934.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798807	0.90538	.	.	ENSG00000164934	ENST00000297579;ENST00000521716;ENST00000521971;ENST00000388778;ENST00000519682	.	.	.	5.19	5.19	0.71726	.	0.111571	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.3513	18.7083	0.91646	0.0:1.0:0.0:0.0	.	.	.	.	X	204;48;48;52;48	.	ENSP00000297579:R204X	R	+	1	2	DCAF13	104501751	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.375000	0.59549	2.415000	0.81967	0.650000	0.86243	CGA	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380797.2		+	ENST00000297579.5	Nonsense_Mutation	SNP	8 : 104432575 - 104432575 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	217	13
YTHDC2	64848	broad.mit.edu	37	5	112889540	112889540	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112889540G>A	ENST00000515883.1	+	15	2228	c.2041G>A	c.(2041-2043)Gtt>Att	p.V681I	YTHDC2_ENST00000161863.4_Missense_Mutation_p.V681I			Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	681	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		ACCTGCAGGTGTTCGAAAAAT	0.284		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	57	56			NA	NA	5		NA											NA				112889540		2201	4297	6498	SO:0001583	missense			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188	64848	64848			24721	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_022828	NM_022828	NA	Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000515883.1:c.2041G>A	5.37:g.112889540G>A	ENSP00000423101:p.Val681Ile	NA	B2RP66	37		.	.	.	.	.	.	.	.	.	.	G	10.16	1.274031	0.23221	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.75154	-0.91;-0.91	5.51	4.52	0.55395	Helicase, C-terminal (3);	0.121117	0.52532	D	0.000061	T	0.66829	0.2829	M	0.64567	1.98	0.30228	N	0.796184	B	0.06786	0.001	B	0.12837	0.008	T	0.60439	-0.7263	10	0.35671	T	0.21	.	6.275	0.20975	0.3016:0.0:0.6984:0.0	.	681	Q9H6S0	YTDC2_HUMAN	I	681;681;591	ENSP00000161863:V681I;ENSP00000423101:V681I	ENSP00000161863:V681I	V	+	1	0	YTHDC2	112917439	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.406000	0.44557	2.572000	0.86782	0.650000	0.86243	GTT	YTHDC2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000370842.1		+	ENST00000515883.1	Missense_Mutation	SNP	5 : 112889540 - 112889540 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	69
PARP16	54956	broad.mit.edu	37	15	65555562	65555562	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65555562C>T	ENST00000444347.2	-	2	687	c.271G>A	c.(271-273)Ggc>Agc	p.G91S	PARP16_ENST00000261888.6_Missense_Mutation_p.G206S			Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	206	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						AGGATGGGGCCGAGGAGGCTG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(50;885 1163 13509 21242 41978)							NA				0													82	64	70			NA	NA	15		NA											NA				65555562		2201	4299	6500	SO:0001583	missense			AK000516	CCDS10204.1	15q22.2	2010-02-16	2004-08-25	2004-08-25	ENSG00000138617	ENSG00000138617	54956	54956		Poly (ADP-ribose) polymerases	26040	protein-coding gene	gene with protein product			chromosome 15 open reading frame 30	C15orf30	NA	15273990	Standard	NM_017851	NM_017851	NA	Approved	FLJ20509, FLJ25281, pART15	uc002aoq.3	Q8N5Y8	OTTHUMG00000133138	ENST00000444347.2:c.271G>A	15.37:g.65555562C>T	ENSP00000396118:p.Gly91Ser	NA	Q6PK64|Q9NX03	37		.	.	.	.	.	.	.	.	.	.	C	35	5.460407	0.96240	.	.	ENSG00000138617	ENST00000261888;ENST00000444347	T;T	0.61510	0.74;0.1	5.6	5.6	0.85130	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.72252	0.3437	L	0.53671	1.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.987;0.989;0.993	T	0.68032	-0.5516	10	0.33141	T	0.24	-29.5579	18.6133	0.91294	0.0:1.0:0.0:0.0	.	206;91;206	Q8N5Y8-3;Q8N5Y8-2;Q8N5Y8	.;.;PAR16_HUMAN	S	206;91	ENSP00000261888:G206S;ENSP00000396118:G91S	ENSP00000261888:G206S	G	-	1	0	PARP16	63342615	1.000000	0.71417	0.957000	0.39632	0.962000	0.63368	7.711000	0.84669	2.636000	0.89361	0.655000	0.94253	GGC	PARP16-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000418174.1		-	ENST00000444347.2	Missense_Mutation	SNP	15 : 65555562 - 65555562 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	204	34
RNF4	6047	broad.mit.edu	37	4	2502385	2502385	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2502385G>A	ENST00000511843.1	+	4	343		c.e4-1		RNF4_ENST00000511600.1_Splice_Site|RNF4_ENST00000506706.1_Splice_Site|RNF4_ENST00000509258.1_Splice_Site|RNF4_ENST00000511859.1_Splice_Site|RNF4_ENST00000541204.1_Splice_Site|RNF4_ENST00000314289.8_Splice_Site			P78317	RNF4_HUMAN	ring finger protein 4	NA					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination|regulation of kinetochore assembly|regulation of spindle assembly|response to arsenic-containing substance	cytoplasm|PML body	androgen receptor binding|DNA binding|nucleosome binding|sequence-specific DNA binding transcription factor activity|SUMO polymer binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|lung(1)	5		all_epithelial(65;0.241)				TTCTTTTGAAGCTGGAGATGA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													186	164	171			NA	NA	4		NA											NA				2502385		1886	4135	6021	SO:0001630	splice_region_variant			U95140	CCDS47001.1, CCDS54713.1	4p16.3	2013-01-09				ENSG00000063978	6047	6047		RING-type (C3HC4) zinc fingers	10067	protein-coding gene	gene with protein product		602850			NA	9479498	Standard	NM_002938	NM_001185009	NA	Approved	RES4-26, SNURF, SLX5	uc003gfb.3	P78317		ENST00000511843.1:c.344-1G>A	4.37:g.2502385G>A		NA	B2R6D6|Q49AR8	37		.	.	.	.	.	.	.	.	.	.	G	19.59	3.855263	0.71719	.	.	ENSG00000063978	ENST00000504224;ENST00000314289;ENST00000536449;ENST00000541204;ENST00000502316;ENST00000507247;ENST00000509258;ENST00000511859;ENST00000506706;ENST00000511600;ENST00000513450	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1961	0.82025	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RNF4	2472183	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.512000	0.67030	2.676000	0.91093	0.655000	0.94253	.	RNF4-011	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000360926.1	Intron	+	ENST00000511843.1	Splice_Site	SNP	4 : 2502385 - 2502385 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	198	12
ZNF207	7756	broad.mit.edu	37	17	30696771	30696771	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30696771G>A	ENST00000394670.4	+	12	1647	c.1478G>A	c.(1477-1479)cGt>cAt	p.R493H	ZNF207_ENST00000341711.6_Missense_Mutation_p.R394H|ZNF207_ENST00000321233.6_Missense_Mutation_p.R477H|ZNF207_ENST00000577908.1_Intron|ZNF207_ENST00000394673.2_Missense_Mutation_p.R462H|ZNF207_ENST00000342555.6_Missense_Mutation_p.R496H	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	zinc finger protein 207	477						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R477L(1)		breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			CAAGGTGGCCGTTACTGATCT	0.507		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)											82	71	75			NA	NA	17		NA											NA				30696771		2203	4300	6503	SO:0001583	missense			AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244	7756	7756		Zinc fingers, C2H2-type	12998	protein-coding gene	gene with protein product		603428			NA	9799612	Standard		NM_001098507	NA	Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000394670.4:c.1478G>A	17.37:g.30696771G>A	ENSP00000378165:p.Arg493His	NA	A8K6Y6|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	37	CCDS42294.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848845	0.51164	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000321233;ENST00000341711;ENST00000342555	T;T;T	0.53640	0.64;0.73;0.61	5.65	4.69	0.59074	.	.	.	.	.	T	0.49406	0.1555	N	0.14661	0.345	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	P;P;P;P	0.62560	0.904;0.904;0.904;0.904	T	0.58075	-0.7700	9	0.87932	D	0	.	14.8335	0.70166	0.0692:0.0:0.9308:0.0	.	446;493;462;477	A8MTG3;E1P660;O43670-2;O43670	.;.;.;ZN207_HUMAN	H	493;446;462;394;477	ENSP00000378165:R493H;ENSP00000322777:R462H;ENSP00000344913:R394H	ENSP00000322777:R462H	R	+	2	0	ZNF207	27720884	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	8.004000	0.88535	1.406000	0.46857	-0.320000	0.08662	CGT	ZNF207-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256249.2		+	ENST00000394670.4	Missense_Mutation	SNP	17 : 30696771 - 30696771 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	295	36
NOTCH1	4851	broad.mit.edu	37	9	139391776	139391776	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139391776G>A	ENST00000277541.6	-	34	6490	c.6415C>T	c.(6415-6417)Ctc>Ttc	p.L2139F		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2139					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCGAGCAGAGCGGGGGCGAC	0.692		NA	T, Mis, O	TRB@	T-ALL					HNSCC(8;0.001)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		9	9q34.3	4851	Notch homolog 1, translocation-associated (Drosophila) (TAN1)		L	0													20	24	22			NA	NA	9		NA											NA				139391776		2079	4173	6252	SO:0001583	missense			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400	4851	4851		Ankyrin repeat domain containing	7881	protein-coding gene	gene with protein product		190198	Notch (Drosophila) homolog 1 (translocation-associated), Notch homolog 1, translocation-associated (Drosophila)	TAN1	NA	1831692	Standard	NM_017617	NM_017617	NA	Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.6415C>T	9.37:g.139391776G>A	ENSP00000277541:p.Leu2139Phe	NA	Q59ED8|Q5SXM3	37	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468738	0.63625	.	.	ENSG00000148400	ENST00000277541	D	0.83075	-1.68	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.89584	0.6757	M	0.76574	2.34	0.80722	D	1	D	0.62365	0.991	P	0.59595	0.86	D	0.88716	0.3226	10	0.41790	T	0.15	.	18.5525	0.91071	0.0:0.0:1.0:0.0	.	2139	P46531	NOTC1_HUMAN	F	2139	ENSP00000277541:L2139F	ENSP00000277541:L2139F	L	-	1	0	NOTCH1	138511597	1.000000	0.71417	1.000000	0.80357	0.112000	0.19704	6.280000	0.72626	2.703000	0.92315	0.561000	0.74099	CTC	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055087.1		-	ENST00000277541.6	Missense_Mutation	SNP	9 : 139391776 - 139391776 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	295	13
CNOT10	25904	broad.mit.edu	37	3	32774973	32774973	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32774973T>C	ENST00000328834.5	+	11	1590	c.1274T>C	c.(1273-1275)gTt>gCt	p.V425A	CNOT10-AS1_ENST00000475395.2_RNA|CNOT10_ENST00000331889.6_Missense_Mutation_p.V425A|CNOT10_ENST00000454516.2_Missense_Mutation_p.V485A|CNOT10_ENST00000538368.1_Missense_Mutation_p.V197A	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	425					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						CAGTCTATTGTTGGTCAAGGC	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	82	81			NA	NA	3		NA											NA				32774973		2203	4299	6502	SO:0001583	missense			BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973	25904	25904		Tetratricopeptide (TTC) repeat domain containing	23817	protein-coding gene	gene with protein product					NA		Standard	NM_015442	NR_046352	NA	Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	ENST00000328834.5:c.1274T>C	3.37:g.32774973T>C	ENSP00000330060:p.Val425Ala	NA	Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	37	CCDS2655.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.686005	0.88639	.	.	ENSG00000182973	ENST00000331889;ENST00000328834;ENST00000540405;ENST00000538368;ENST00000454516	T;T;T;T	0.52754	1.25;1.2;0.65;1.17	5.74	5.74	0.90152	.	0.105420	0.64402	D	0.000004	T	0.63686	0.2532	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.63880	0.98;0.993;0.983;0.988	P;P;P;P	0.60789	0.718;0.879;0.826;0.675	T	0.64778	-0.6327	10	0.52906	T	0.07	-24.444	16.3426	0.83092	0.0:0.0:0.0:1.0	.	485;425;424;425	F8WAF2;Q9H9A5-3;Q9H9A5-2;Q9H9A5	.;.;.;CNOTA_HUMAN	A	425;425;325;197;485	ENSP00000329376:V425A;ENSP00000330060:V425A;ENSP00000442552:V197A;ENSP00000399862:V485A	ENSP00000330060:V425A	V	+	2	0	CNOT10	32749977	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.887000	0.87295	2.317000	0.78254	0.460000	0.39030	GTT	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253248.2		+	ENST00000328834.5	Missense_Mutation	SNP	3 : 32774973 - 32774973 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	207	33
PHLDB1	23187	broad.mit.edu	37	11	118521155	118521155	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118521155C>A	ENST00000361417.2	+	21	4188	c.3777C>A	c.(3775-3777)tgC>tgA	p.C1259*	PHLDB1_ENST00000524713.1_Nonsense_Mutation_p.C402*|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000527898.1_Nonsense_Mutation_p.C310*|PHLDB1_ENST00000356063.5_Nonsense_Mutation_p.C1212*	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1259	PH.									breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ACCAGGTCTGCCGTGGCTACT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	124	131			NA	NA	11		NA											NA				118521155		2200	4295	6495	SO:0001587	stop_gained				CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144	23187	23187		Pleckstrin homology (PH) domain containing	23697	protein-coding gene	gene with protein product		612834			NA	14532993	Standard	NM_015157	NM_015157	NA	Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.3777C>A	11.37:g.118521155C>A	ENSP00000354498:p.Cys1259*	NA	B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	37	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	C	36	5.804019	0.96967	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000358191;ENST00000356063;ENST00000527898;ENST00000524713	.	.	.	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.941	16.4284	0.83832	0.0:1.0:0.0:0.0	.	.	.	.	X	1259;1033;623;1212;310;402	.	ENSP00000348359:C1212X	C	+	3	2	PHLDB1	118026365	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.831000	0.55776	2.401000	0.81631	0.655000	0.94253	TGC	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389279.1		+	ENST00000361417.2	Nonsense_Mutation	SNP	11 : 118521155 - 118521155 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	43
SLC52A1	55065	broad.mit.edu	37	17	4936666	4936666	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4936666G>T	ENST00000512825.2	-	3	2422				SLC52A1_ENST00000424747.1_Missense_Mutation_p.L342M|SLC52A1_ENST00000254853.5_Missense_Mutation_p.L342M			Q9NWF4	RFT_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	NA						integral to plasma membrane	receptor activity|riboflavin transporter activity				NA						AGACCAACCAGCCCTGCCAGG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	92	87			NA	NA	17		NA											NA				4936666		2203	4300	6503	SO:0001627	intron_variant			AY070775	CCDS11066.1	17p13.3	2013-07-17	2013-07-17	2012-02-29	ENSG00000132517	ENSG00000132517	55065	55065		Solute carriers	30225	protein-coding gene	gene with protein product	riboflavin transporter 1	607883	G protein-coupled receptor 172B	GPR172B	NA	12740431, 18632736	Standard	NM_017986	NM_001104577	NA	Approved	FLJ10060, GPCR42, PAR2, hRFT1, RFVT1	uc002gao.4	Q9NWF4	OTTHUMG00000099448	ENST00000512825.2:c.1010+107C>A	17.37:g.4936666G>T		NA	B5MEV1|B5MEV2|Q6P9E0|Q86UT0	37		.	.	.	.	.	.	.	.	.	.	G	15.89	2.967437	0.53507	.	.	ENSG00000132517	ENST00000254853;ENST00000424747	T;T	0.75477	-0.94;-0.94	0.913	0.913	0.19354	.	0.166040	0.40222	N	0.001143	T	0.77631	0.4159	L	0.55990	1.75	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.73263	-0.4038	10	0.39692	T	0.17	.	5.1534	0.15021	0.0:0.0:1.0:0.0	.	342	Q9NWF4	RFT_HUMAN	M	342	ENSP00000254853:L342M;ENSP00000399979:L342M	ENSP00000254853:L342M	L	-	1	2	GPR172B	4877390	0.447000	0.25673	0.743000	0.31040	0.584000	0.36387	0.394000	0.20834	0.784000	0.33661	0.655000	0.94253	CTG	SLC52A1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000438891.1		-	ENST00000512825.2	Intron	SNP	17 : 4936666 - 4936666 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	448	93
FGFR3	2261	broad.mit.edu	37	4	1805440	1805440	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1805440G>A	ENST00000481110.2	+	8	1213	c.952G>A	c.(952-954)Gac>Aac	p.D318N	FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000440486.2_Missense_Mutation_p.D318N|FGFR3_ENST00000260795.2_Missense_Mutation_p.D318N|FGFR3_ENST00000340107.4_Intron			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	318	Ig-like C2-type 3.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	TAACACCACCGACAAGGAGCT	0.607		1	Mis, T	IGH@, ETV6	bladder, MM, T-cell lymphoma		Hypochondroplasia, Thanatophoric dysplasia		Saethre-Chotzen syndrome;Muenke syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		4	4p16.3	2261	fibroblast growth factor receptor 3	yes	L, E	0													80	75	77			NA	NA	4		NA											NA				1805440		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078	2261	2261		CD molecules, Immunoglobulin superfamily / I-set domain containing	3690	protein-coding gene	gene with protein product		134934	achondroplasia, thanatophoric dwarfism	ACH	NA	1847508	Standard	NM_000142	NM_000142	NA	Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000481110.2:c.952G>A	4.37:g.1805440G>A	ENSP00000420533:p.Asp318Asn	NA	D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	37		.	.	.	.	.	.	.	.	.	.	g	17.61	3.433429	0.62844	.	.	ENSG00000068078	ENST00000481110;ENST00000440486;ENST00000260795;ENST00000507588	D;D;D;T	0.96041	-3.89;-3.89;-3.89;-1.33	4.29	3.44	0.39384	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.212673	0.48286	D	0.000196	D	0.92149	0.7511	L	0.33792	1.035	0.80722	D	1	P;P;B;P	0.47762	0.9;0.824;0.142;0.558	P;B;B;B	0.46026	0.501;0.336;0.081;0.076	D	0.89021	0.3435	10	0.25106	T	0.35	.	12.1103	0.53836	0.085:0.0:0.915:0.0	.	281;318;318;318	Q8NI15;P22607-4;P22607;F8W9L4	.;.;FGFR3_HUMAN;.	N	318;318;318;104	ENSP00000420533:D318N;ENSP00000414914:D318N;ENSP00000260795:D318N;ENSP00000427289:D104N	ENSP00000260795:D318N	D	+	1	0	FGFR3	1775238	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.623000	0.83113	0.908000	0.36671	0.561000	0.74099	GAC	FGFR3-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000358204.2		+	ENST00000481110.2	Missense_Mutation	SNP	4 : 1805440 - 1805440 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	240	42
PMPCA	23203	broad.mit.edu	37	9	139309012	139309012	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139309012A>G	ENST00000371717.3	+	5	454	c.445A>G	c.(445-447)Acc>Gcc	p.T149A	PMPCA_ENST00000399219.3_Intron|PMPCA_ENST00000371720.1_Intron	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	149					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		CAGAGACACCACCATGTATGC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	146	151			NA	NA	9		NA											NA				139309012		2203	4300	6503	SO:0001583	missense			D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688	23203	23203			18667	protein-coding gene	gene with protein product		613036	inositol polyphosphate-5-phosphatase, 72 kD	INPP5E	NA	8590280, 7788527	Standard	NM_015160	NM_015160	NA	Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.445A>G	9.37:g.139309012A>G	ENSP00000360782:p.Thr149Ala	NA	Q16639|Q8N513	37	CCDS35180.1	.	.	.	.	.	.	.	.	.	.	A	17.13	3.309660	0.60414	.	.	ENSG00000165688	ENST00000371717	T	0.24908	1.83	5.53	5.53	0.82687	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.050174	0.85682	D	0.000000	T	0.34832	0.0911	M	0.77486	2.375	0.80722	D	1	B;B;B	0.26318	0.146;0.057;0.057	B;B;B	0.29663	0.105;0.042;0.042	T	0.15896	-1.0421	10	0.51188	T	0.08	.	14.8413	0.70226	1.0:0.0:0.0:0.0	.	149;149;149	B4DRK5;Q5SXM9;Q10713	.;.;MPPA_HUMAN	A	149	ENSP00000360782:T149A	ENSP00000360782:T149A	T	+	1	0	PMPCA	138428833	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	8.922000	0.92789	2.084000	0.62774	0.528000	0.53228	ACC	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055054.1		+	ENST00000371717.3	Missense_Mutation	SNP	9 : 139309012 - 139309012 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	582	109
SLC16A12	387700	broad.mit.edu	37	10	91203589	91203589	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91203589G>A	ENST00000371790.4	-	4	528	c.228C>T	c.(226-228)ttC>ttT	p.F76F	SLC16A12_ENST00000341233.4_Silent_p.F46F			Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	46						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						AGTATGTCTGGAACTCCACAA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	89	92			NA	NA	10		NA											NA				91203589		2203	4300	6503	SO:0001819	synonymous_variant				CCDS7404.1, CCDS7404.2	10q23.32	2013-07-18	2013-07-18		ENSG00000152779	ENSG00000152779	387700	387700		Solute carriers	23094	protein-coding gene	gene with protein product	monocarboxylic acid transporter 12	611910	solute carrier family 16 (monocarboxylic acid transporters), member 12, solute carrier family 16, member 12 (monocarboxylic acid transporter 12)		NA		Standard	NM_213606	NM_213606	NA	Approved	MCT12	uc001kgm.3	Q6ZSM3	OTTHUMG00000018714	ENST00000371790.4:c.228C>T	10.37:g.91203589G>A		NA	Q5M9M9|Q5T7J2|Q6ZV76	37	CCDS7404.2																																																																																			SLC16A12-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049304.3		-	ENST00000371790.4	Silent	SNP	10 : 91203589 - 91203589 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	208	36
MEGT1	0	broad.mit.edu	37	6	31675894	31675894	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31675894T>A	ENST00000503322.1	+	3	632	c.629T>A	c.(628-630)gTc>gAc	p.V210D	LY6G6F_ENST00000556581.1_Missense_Mutation_p.V210D|LY6G6F_ENST00000375832.4_Missense_Mutation_p.V210D|XXbac-BPG32J3.20_ENST00000461287.1_Intron						NA											NA						AACAAAGGGGTCAGCTTTAGC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	119	114			NA	NA	6		NA											NA				31675894		1509	2708	4217	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000503322.1:c.629T>A	6.37:g.31675894T>A	ENSP00000421232:p.Val210Asp	NA		37		.	.	.	.	.	.	.	.	.	.	T	14.62	2.589956	0.46214	.	.	ENSG00000204424;ENSG00000204424;ENSG00000250641	ENST00000556581;ENST00000375832;ENST00000503322	T;T;T	0.22539	2.23;1.95;2.23	5.21	5.21	0.72293	.	0.662303	0.13873	N	0.356877	T	0.18964	0.0455	L	0.51422	1.61	0.45914	D	0.998755	D;P	0.55385	0.971;0.94	P;P	0.50440	0.641;0.564	T	0.01757	-1.1280	10	0.87932	D	0	-7.2332	11.4678	0.50249	0.0:0.0:0.0:1.0	.	210;210	Q9NZJ1;Q5SQ64	.;LY66F_HUMAN	D	210	ENSP00000452432:V210D;ENSP00000364992:V210D;ENSP00000421232:V210D	ENSP00000364992:V210D	V	+	2	0	XXbac-BPG32J3.19;LY6G6F	31783873	0.993000	0.37304	0.998000	0.56505	0.997000	0.91878	3.459000	0.53021	1.978000	0.57642	0.482000	0.46254	GTC	MEGT1-001	PUTATIVE	basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000368113.1		+	ENST00000503322.1	Missense_Mutation	SNP	6 : 31675894 - 31675894 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	674	47
TMCC3	57458	broad.mit.edu	37	12	94976014	94976014	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:94976014C>T	ENST00000261226.4	-	2	510	c.379G>A	c.(379-381)Gcc>Acc	p.A127T	TMCC3_ENST00000551457.1_Missense_Mutation_p.A96T	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	127						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TGCAGCTGGGCGATGGAGTGA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	95	97			NA	NA	12		NA											NA				94976014		2203	4300	6503	SO:0001583	missense			AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704	57458	57458		Transmembrane and coiled-coil domain containing	29199	protein-coding gene	gene with protein product			transmembrane and coiled-coil domains 3		NA	10574461	Standard	NM_020698	XM_005269039	NA	Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.379G>A	12.37:g.94976014C>T	ENSP00000261226:p.Ala127Thr	NA	Q8IWB2	37	CCDS31877.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.058467	0.76074	.	.	ENSG00000057704	ENST00000261226;ENST00000551457;ENST00000548918	T;T;T	0.55413	0.78;0.78;0.52	5.74	4.83	0.62350	.	0.137360	0.64402	D	0.000003	T	0.49660	0.1570	M	0.76574	2.34	0.58432	D	0.999996	P	0.48089	0.905	B	0.37601	0.254	T	0.54860	-0.8230	10	0.37606	T	0.19	-18.7566	12.5217	0.56062	0.1326:0.7399:0.1275:0.0	.	127	Q9ULS5	TMCC3_HUMAN	T	127;96;96	ENSP00000261226:A127T;ENSP00000449888:A96T;ENSP00000450078:A96T	ENSP00000261226:A127T	A	-	1	0	TMCC3	93500145	0.998000	0.40836	0.794000	0.32065	0.973000	0.67179	3.773000	0.55333	1.528000	0.49103	0.561000	0.74099	GCC	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408113.1		-	ENST00000261226.4	Missense_Mutation	SNP	12 : 94976014 - 94976014 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	448	84
ADAMTS6	11174	broad.mit.edu	37	5	64766794	64766794	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:64766794G>T	ENST00000536360.1	-	3	1086	c.273C>A	c.(271-273)gcC>gcA	p.A91A				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	91					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GCTTGCCATAGGCTGAAAGTT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	115	115			NA	NA	5		NA											NA				64766794		2203	4300	6503	SO:0001819	synonymous_variant			AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192	11174	11174		ADAM metallopeptidases with thrombospondin type 1 motif	222	protein-coding gene	gene with protein product	a disintegrin and metalloproteinase with thrombospondin motifs 6	605008	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6		NA	10464288	Standard	NM_197941	NM_197941	NA	Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.273C>A	5.37:g.64766794G>T		NA	Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	37																																																																																				ADAMTS6-201	KNOWN	basic	protein_coding	NA	protein_coding			-	ENST00000536360.1	Silent	SNP	5 : 64766794 - 64766794 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	449	87
PARD3	56288	broad.mit.edu	37	10	34985290	34985290	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:34985290C>T	ENST00000374789.3	-	2	503	c.178G>A	c.(178-180)Gac>Aac	p.D60N	PARD3_ENST00000340077.5_Missense_Mutation_p.D60N|PARD3_ENST00000374773.1_Missense_Mutation_p.D60N|PARD3_ENST00000346874.4_Missense_Mutation_p.D60N|PARD3_ENST00000374788.3_Missense_Mutation_p.D60N|PARD3_ENST00000545260.1_Missense_Mutation_p.D60N|PARD3_ENST00000374794.3_Missense_Mutation_p.D60N|PARD3_ENST00000350537.4_Missense_Mutation_p.D60N|PARD3_ENST00000545693.1_Missense_Mutation_p.D60N|PARD3_ENST00000374790.3_Missense_Mutation_p.D60N|PARD3_ENST00000374776.1_Missense_Mutation_p.D60N	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	60					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TCATCAAGGTCTAGTATTCCT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													334	282	300			NA	NA	10		NA											NA				34985290		2203	4300	6503	SO:0001583	missense			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498	56288	56288			16051	protein-coding gene	gene with protein product	atypical PKC isotype-specific interacting protein, par-3 family cell polarity regulator alpha, protein phosphatase 1, regulatory subunit 118	606745	par-3 (partitioning defective 3, C.elegans) homolog, par-3 partitioning defective 3 homolog (C. elegans)		NA	10934474	Standard	NM_019619	NM_001184790	NA	Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.178G>A	10.37:g.34985290C>T	ENSP00000363921:p.Asp60Asn	NA	Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	37	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732192	0.89482	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773	T;T;T;T;T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	5.66	4.76	0.60689	.	0.102022	0.64402	D	0.000004	T	0.80660	0.4665	M	0.84082	2.675	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.998;0.999;1.0;1.0;1.0;1.0;1.0;0.999	D;P;D;D;D;D;D;D;D;D;D	0.91635	0.998;0.892;0.996;0.998;0.996;0.999;0.999;0.997;0.999;0.999;0.994	D	0.84184	0.0441	10	0.87932	D	0	.	15.5948	0.76569	0.0:0.8615:0.1384:0.0	.	60;60;60;60;60;60;60;60;60;60;60	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q8TEW0-8;Q8TEW0-9	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.	N	60	ENSP00000443147:D60N;ENSP00000440857:D60N;ENSP00000363921:D60N;ENSP00000363920:D60N;ENSP00000340591:D60N;ENSP00000363926:D60N;ENSP00000311986:D60N;ENSP00000363922:D60N;ENSP00000363908:D60N;ENSP00000341844:D60N;ENSP00000363905:D60N	ENSP00000341844:D60N	D	-	1	0	PARD3	35025296	1.000000	0.71417	0.172000	0.22920	0.872000	0.50106	7.336000	0.79245	1.377000	0.46286	0.650000	0.86243	GAC	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047527.1		-	ENST00000374789.3	Missense_Mutation	SNP	10 : 34985290 - 34985290 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1156	183
CDC42SE2	56990	broad.mit.edu	37	5	130721245	130721245	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130721245C>T	ENST00000503291.1	+	0	628				CDC42SE2_ENST00000360515.3_Missense_Mutation_p.R22W|CDC42SE2_ENST00000505065.1_Missense_Mutation_p.R22W|CDC42SE2_ENST00000395246.1_Missense_Mutation_p.R22W			Q9NRR3	C42S2_HUMAN	CDC42 small effector 2	NA					phagocytosis|regulation of cell shape|regulation of signal transduction	cell projection|cytoplasm|cytoskeleton|phagocytic cup	protein binding|structural molecule activity			breast(1)|large_intestine(1)|skin(1)	3		all_cancers(142;0.0525)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAAAAGGCGACGGCGGATTGA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	95	96			NA	NA	5		NA											NA				130721245		2203	4300	6503	SO:0001623	5_prime_UTR_variant			AF189692	CCDS34224.1	5q31.1	2008-02-05				ENSG00000158985	56990	56990			18547	protein-coding gene	gene with protein product					NA	10816584	Standard	NM_020240	NM_020240	NA	Approved	FLJ21967, SPEC2	uc003kvj.3	Q9NRR3		ENST00000503291.1:c.-18C>T	5.37:g.130721245C>T		NA	B2R622|Q4KMT9	37		.	.	.	.	.	.	.	.	.	.	C	16.23	3.063430	0.55432	.	.	ENSG00000158985	ENST00000395246;ENST00000360515;ENST00000505065	.	.	.	4.51	4.51	0.55191	.	0.000000	0.64402	D	0.000011	T	0.62319	0.2418	.	.	.	0.48632	D	0.999688	D	0.64830	0.994	P	0.52066	0.689	T	0.65129	-0.6243	8	0.66056	D	0.02	-46.6221	10.266	0.43455	0.1969:0.8031:0.0:0.0	.	22	Q9NRR3	C42S2_HUMAN	W	22	.	ENSP00000353706:R22W	R	+	1	2	CDC42SE2	130749144	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.663000	0.46774	2.797000	0.96272	0.563000	0.77884	CGG	CDC42SE2-001	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000370100.1		+	ENST00000503291.1	5'UTR	SNP	5 : 130721245 - 130721245 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	78
SOCS5	9655	broad.mit.edu	37	2	46986474	46986474	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46986474C>T	ENST00000306503.5	+	2	977	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	SOCS5_ENST00000394861.2_Missense_Mutation_p.R269W	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	269					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AGAGAGAAGGCGGCTTAGTAT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	51	51			NA	NA	2		NA											NA				46986474		2203	4300	6503	SO:0001583	missense			AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150	NA	9655		Suppressors of cytokine signaling, SH2 domain containing	16852	protein-coding gene	gene with protein product		607094			NA	9734811, 11230166	Standard		NM_014011	NA	Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.805C>T	2.37:g.46986474C>T	ENSP00000305133:p.Arg269Trp	NA	Q8IYZ4	37	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264813	0.40095	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	T;T	0.38401	1.14;1.14	5.43	3.6	0.41247	.	0.000000	0.85682	D	0.000000	T	0.52821	0.1758	M	0.66939	2.045	0.50467	D	0.999877	D	0.89917	1.0	D	0.81914	0.995	T	0.52351	-0.8587	10	0.72032	D	0.01	-11.791	7.3985	0.26950	0.4338:0.4875:0.0:0.0787	.	269	O75159	SOCS5_HUMAN	W	269	ENSP00000305133:R269W;ENSP00000378330:R269W	ENSP00000305133:R269W	R	+	1	2	SOCS5	46839978	0.995000	0.38212	0.795000	0.32087	0.936000	0.57629	3.253000	0.51469	0.824000	0.34613	0.655000	0.94253	CGG	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250791.2		+	ENST00000306503.5	Missense_Mutation	SNP	2 : 46986474 - 46986474 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	386	16
USH2A	7399	broad.mit.edu	37	1	216270488	216270488	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216270488A>G	ENST00000307340.3	-	22	5081	c.4695T>C	c.(4693-4695)aaT>aaC	p.N1565N	USH2A_ENST00000366943.2_Silent_p.N1565N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1565	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACTCTTCCTGATTGCCAGGTG	0.378		NA								HNSCC(13;0.011)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	76	77			NA	NA	1		NA											NA				216270488		2203	4300	6503	SO:0001819	synonymous_variant			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781	7399	7399		Fibronectin type III domain containing	12601	protein-coding gene	gene with protein product	usherin	608400		USH2	NA	9624053, 10729113	Standard	NM_007123	NM_007123	NA	Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4695T>C	1.37:g.216270488A>G		NA	Q5VVM9|Q6S362|Q9NS27	37	CCDS31025.1																																																																																			USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128138.1		-	ENST00000307340.3	Silent	SNP	1 : 216270488 - 216270488 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	341	26
FAT1	2195	broad.mit.edu	37	4	187540407	187540407	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187540407C>A	ENST00000441802.2	-	10	7542	c.7333G>T	c.(7333-7335)Ggg>Tgg	p.G2445W		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2445	Cadherin 22.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTGATAATCCCTGTTGCACTG	0.438		NA								HNSCC(5;0.00058)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(197;1040 2055 4143 4984 49344)							NA				0													148	154	152			NA	NA	4		NA											NA				187540407		2059	4199	6258	SO:0001583	missense			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857	2195	2195		Cadherins / Cadherin-related	3595	protein-coding gene	gene with protein product	cadherin-related family member 8	600976	FAT tumor suppressor (Drosophila) homolog, FAT tumor suppressor homolog 1 (Drosophila)	FAT	NA	8586420	Standard	NM_005245	XM_005262834	NA	Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7333G>T	4.37:g.187540407C>A	ENSP00000406229:p.Gly2445Trp	NA		37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.683930	0.47991	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.04654	3.58	5.24	5.24	0.73138	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.44138	0.1279	H	0.99758	4.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70124	-0.4958	10	0.87932	D	0	.	19.3787	0.94523	0.0:1.0:0.0:0.0	.	2445	Q14517	FAT1_HUMAN	W	2445;2447	ENSP00000406229:G2445W	ENSP00000260147:G2447W	G	-	1	0	FAT1	187777401	1.000000	0.71417	0.640000	0.29408	0.113000	0.19764	7.609000	0.82925	2.890000	0.99128	0.650000	0.86243	GGG	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360209.3		-	ENST00000441802.2	Missense_Mutation	SNP	4 : 187540407 - 187540407 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	735	70
LRP1B	53353	broad.mit.edu	37	2	141359166	141359166	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141359166T>C	ENST00000389484.3	-	42	7813	c.6842A>G	c.(6841-6843)gAt>gGt	p.D2281G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2281					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTACAGTGTATCCCAGGCTCT	0.453		NA								TSP Lung(27;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(99;50 2074 2507 20106)							NA				0													132	115	120			NA	NA	2		NA											NA				141359166		2203	4300	6503	SO:0001583	missense			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702	53353	53353		Low density lipoprotein receptors	6693	protein-coding gene	gene with protein product	LRP-deleted in tumors	608766			NA	10766186	Standard	NM_018557	NM_018557	NA	Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6842A>G	2.37:g.141359166T>C	ENSP00000374135:p.Asp2281Gly	NA	Q8WY29|Q8WY30|Q8WY31	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.639947	0.87760	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.88586	-2.4	5.04	5.04	0.67666	Six-bladed beta-propeller, TolB-like (1);	0.128995	0.49916	D	0.000131	D	0.93802	0.8018	M	0.75777	2.31	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.93964	0.7243	10	0.51188	T	0.08	.	15.0609	0.71951	0.0:0.0:0.0:1.0	.	2281	Q9NZR2	LRP1B_HUMAN	G	2281;2219	ENSP00000374135:D2281G	ENSP00000374135:D2281G	D	-	2	0	LRP1B	141075636	1.000000	0.71417	0.986000	0.45419	0.985000	0.73830	7.949000	0.87791	2.015000	0.59207	0.459000	0.35465	GAT	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254736.2		-	ENST00000389484.3	Missense_Mutation	SNP	2 : 141359166 - 141359166 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	233	18
OBSL1	23363	broad.mit.edu	37	2	220431577	220431577	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220431577C>A	ENST00000404537.1	-	5	2165	c.2109G>T	c.(2107-2109)caG>caT	p.Q703H	OBSL1_ENST00000373873.4_Missense_Mutation_p.Q703H|OBSL1_ENST00000289656.3_Missense_Mutation_p.Q290H|OBSL1_ENST00000603926.1_Missense_Mutation_p.Q703H|OBSL1_ENST00000265318.4_Missense_Mutation_p.Q703H|OBSL1_ENST00000373876.1_Missense_Mutation_p.Q703H	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	703					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				NA		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CAGCTGAGTCCTGCACGCCGG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	58	57			NA	NA	2		NA											NA				220431577		2070	4213	6283	SO:0001583	missense			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006	23363	23363		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	29092	protein-coding gene	gene with protein product		610991			NA	9734811	Standard		NM_015311	NA	Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.2109G>T	2.37:g.220431577C>A	ENSP00000385636:p.Gln703His	NA	A4KVA5|Q96IW3	37	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	C	8.548	0.874794	0.17395	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873;ENST00000289656	T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07	5.23	2.3	0.28687	.	.	.	.	.	T	0.30634	0.0771	L	0.33485	1.01	0.34611	D	0.717528	B;B;B;B	0.15719	0.014;0.002;0.009;0.014	B;B;B;B	0.24701	0.022;0.007;0.005;0.055	T	0.31251	-0.9950	9	0.44086	T	0.13	.	7.1136	0.25405	0.0:0.6768:0.1574:0.1658	.	704;703;290;703	A4KVA4;O75147;A8MSZ8;O75147-2	.;OBSL1_HUMAN;.;.	H	703;703;703;703;290	ENSP00000265318:Q703H;ENSP00000385636:Q703H;ENSP00000362983:Q703H;ENSP00000362980:Q703H;ENSP00000289656:Q290H	ENSP00000265318:Q703H	Q	-	3	2	OBSL1	220139821	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	0.762000	0.26503	0.776000	0.33473	0.655000	0.94253	CAG	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322012.1		-	ENST00000404537.1	Missense_Mutation	SNP	2 : 220431577 - 220431577 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	483	81
INTS1	26173	broad.mit.edu	37	7	1525021	1525021	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1525021C>T	ENST00000404767.3	-	23	3146	c.3061G>A	c.(3061-3063)Gat>Aat	p.D1021N	INTS1_ENST00000389470.4_Missense_Mutation_p.D1183N	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1021					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TGCAGCACATCTGTGTCCCCC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	60	56			NA	NA	7		NA											NA				1525021		2105	4220	6325	SO:0001583	missense			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880	26173	26173			24555	protein-coding gene	gene with protein product		611345			NA	16239144	Standard		NM_001080453	NA	Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.3061G>A	7.37:g.1525021C>T	ENSP00000385722:p.Asp1021Asn	NA	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	37	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535348	0.27475	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.44083	0.97;0.93	5.2	4.32	0.51571	.	0.101878	0.64402	D	0.000003	T	0.30510	0.0767	N	0.22421	0.69	0.35414	D	0.792645	B;B	0.26258	0.145;0.036	B;B	0.23716	0.048;0.03	T	0.36504	-0.9745	10	0.52906	T	0.07	.	13.3633	0.60669	0.0:0.924:0.0:0.076	.	1189;1021	A4D213;Q8N201	.;INT1_HUMAN	N	1021;1183	ENSP00000385722:D1021N;ENSP00000374121:D1183N	ENSP00000374121:D1183N	D	-	1	0	INTS1	1491547	1.000000	0.71417	0.002000	0.10522	0.036000	0.12997	5.392000	0.66272	1.181000	0.42912	0.561000	0.74099	GAT	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323683.1		-	ENST00000404767.3	Missense_Mutation	SNP	7 : 1525021 - 1525021 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	431	65
RASGRP1	10125	broad.mit.edu	37	15	38803860	38803860	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:38803860C>T	ENST00000310803.5	-	8	1088	c.911G>A	c.(910-912)aGc>aAc	p.S304N	RASGRP1_ENST00000559830.1_Missense_Mutation_p.S304N|RASGRP1_ENST00000558164.1_Missense_Mutation_p.S304N|RASGRP1_ENST00000561180.1_Missense_Mutation_p.S355N|RASGRP1_ENST00000450598.2_Missense_Mutation_p.S304N|RASGRP1_ENST00000539159.1_Missense_Mutation_p.S256N	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	304	Ras-GEF.				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		CGAGATTGAGCTGTGACACAG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	125	125			NA	NA	15		NA											NA				38803860		1996	4175	6171	SO:0001583	missense			AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575	10125	10125		EF-hand domain containing	9878	protein-coding gene	gene with protein product		603962			NA	10087292, 9789079	Standard	NM_005739	NM_005739	NA	Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.911G>A	15.37:g.38803860C>T	ENSP00000310244:p.Ser304Asn	NA	Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	37	CCDS45222.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046704	0.93740	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000431814;ENST00000539159;ENST00000414708;ENST00000541438	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.27	5.27	0.74061	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.60612	0.2282	M	0.79926	2.475	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.91635	0.992;0.999;0.999;0.998	T	0.64753	-0.6333	10	0.87932	D	0	-24.3189	19.0978	0.93260	0.0:1.0:0.0:0.0	.	304;304;304;304	C9JM27;C9JCE5;O95267;O95267-2	.;.;GRP1_HUMAN;.	N	304;304;304;304;256;304;304	ENSP00000310244:S304N;ENSP00000388540:S304N;ENSP00000444762:S256N;ENSP00000413105:S304N	ENSP00000310244:S304N	S	-	2	0	RASGRP1	36591152	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.651000	0.83577	2.735000	0.93741	0.655000	0.94253	AGC	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418223.1		-	ENST00000310803.5	Missense_Mutation	SNP	15 : 38803860 - 38803860 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	414	86
TMEM132D	121256	broad.mit.edu	37	12	130185005	130185005	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130185005C>T	ENST00000422113.2	-	2	644	c.318G>A	c.(316-318)gtG>gtA	p.V106V		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	106						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AATCCTGGGGCACCACTTGCT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	68	67			NA	NA	12		NA											NA				130185005		2203	4300	6503	SO:0001819	synonymous_variant			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952	121256	121256			29411	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 153	611257			NA	11853319, 12966072	Standard	NM_133448	NM_133448	NA	Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.318G>A	12.37:g.130185005C>T		NA	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	37	CCDS9266.1																																																																																			TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399592.1		-	ENST00000422113.2	Silent	SNP	12 : 130185005 - 130185005 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	54
PDE4A	5141	broad.mit.edu	37	19	10578270	10578270	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10578270C>T	ENST00000352831.6	+	15	2744	c.2634C>T	c.(2632-2634)ggC>ggT	p.G878G	PDE4A_ENST00000592685.1_Silent_p.G856G|PDE4A_ENST00000293683.5_Silent_p.G852G|PDE4A_ENST00000380702.2_Silent_p.G856G|PDE4A_ENST00000344979.3_Silent_p.G639G|PDE4A_ENST00000440014.2_Silent_p.G817G	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	878					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CTCCTGGTGGCGGGGGGTCAG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0									,,,	0,4188		0,0,2094	37	39	39		2634,2556,2451,1917	-1.6	0	19		39	1,8261		0,1,4130	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PDE4A	NM_001111307.1,NM_001111308.1,NM_001111309.1,NM_006202.2	,,,	0,1,6224	TT,TC,CC	NA	0.0121,0.0,0.0080	,,,	878/887,852/861,817/826,639/648	10578270	1,12449	2094	4131	6225	SO:0001819	synonymous_variant				CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	5141	5141	3.1.4.17	Phosphodiesterases	8780	protein-coding gene	gene with protein product	phosphodiesterase E2 dunce homolog (Drosophila)	600126	phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)	DPDE2	NA	8009369	Standard		NM_006202	NA	Approved		uc002moj.2	P27815		ENST00000352831.6:c.2634C>T	19.37:g.10578270C>T		NA	O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	37	CCDS45961.1																																																																																			PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451244.1		+	ENST00000352831.6	Silent	SNP	19 : 10578270 - 10578270 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	552	78
OTX1	5013	broad.mit.edu	37	2	63283199	63283199	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:63283199C>A	ENST00000282549.2	+	5	1089	c.813C>A	c.(811-813)tcC>tcA	p.S271S	OTX1_ENST00000366671.3_Silent_p.S271S	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	271						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CACCCTCCTCCATGGCGGGCC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	119	124			NA	NA	2		NA											NA				63283199		2203	4300	6503	SO:0001819	synonymous_variant				CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507	5013	5013		Homeoboxes / PRD class	8521	protein-coding gene	gene with protein product		600036	orthodenticle (Drosophila) homolog 1, orthodenticle homolog 1 (Drosophila)		NA	7959790	Standard		NM_001199770	NA	Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.813C>A	2.37:g.63283199C>A		NA	Q53TG6	37	CCDS1873.1																																																																																			OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251617.1		+	ENST00000282549.2	Silent	SNP	2 : 63283199 - 63283199 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1221	296
VPREB1	7441	broad.mit.edu	37	22	22599398	22599398	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:22599398G>A	ENST00000403807.3	+	2	226	c.87G>A	c.(85-87)atG>atA	p.M29I	VPREB1_ENST00000302273.2_Missense_Mutation_p.M28I			P12018	VPREB_HUMAN	pre-B lymphocyte 1	29	Framework-1.|Ig-like V-type.				immune response	extracellular region	antigen binding|protein binding			large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		CGCCGGCCATGTCCTCGGCCC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	79	79			NA	NA	22		NA											NA				22599398		2203	4300	6503	SO:0001583	missense			M34927	CCDS13798.1	22q11.2	2014-05-16	2008-09-12		ENSG00000169575	ENSG00000169575	7441	7441		CD molecules, Immunoglobulin superfamily / V-set domain containing	12709	protein-coding gene	gene with protein product		605141			NA	3139558	Standard		NM_007128	NA	Approved	VpreB, CD179A	uc002zvx.1	P12018	OTTHUMG00000151042	ENST00000403807.3:c.87G>A	22.37:g.22599398G>A	ENSP00000385361:p.Met29Ile	NA	B5MCG2	37	CCDS13798.1	.	.	.	.	.	.	.	.	.	.	g	10.67	1.415047	0.25552	.	.	ENSG00000169575	ENST00000403807;ENST00000302273	T;T	0.63096	-0.02;-0.02	3.61	-3.22	0.05125	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.358280	0.04993	N	0.467656	T	0.52158	0.1717	L	0.41356	1.27	0.09310	N	1	B	0.27117	0.168	B	0.31946	0.138	T	0.50466	-0.8825	10	0.46703	T	0.11	.	7.0987	0.25325	0.203:0.5644:0.2326:0.0	.	29	P12018	VPREB_HUMAN	I	29;28	ENSP00000385361:M29I;ENSP00000304590:M28I	ENSP00000304590:M28I	M	+	3	0	VPREB1	20929398	0.456000	0.25744	0.001000	0.08648	0.000000	0.00434	0.678000	0.25277	-0.272000	0.09259	-0.914000	0.02751	ATG	VPREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321101.1		+	ENST00000403807.3	Missense_Mutation	SNP	22 : 22599398 - 22599398 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	382	72
SIX6	4990	broad.mit.edu	37	14	60977961	60977961	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60977961C>T	ENST00000327720.5	+	2	1180	c.732C>T	c.(730-732)tgC>tgT	p.C244C		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	244					organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		ACAGCGAGTGCGACATCTGAG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	41	41			NA	NA	14		NA											NA				60977961		2202	4298	6500	SO:0001819	synonymous_variant			AF141651	CCDS9747.1	14q23.1	2011-06-20	2007-07-13		ENSG00000184302	ENSG00000184302	4990	4990		Homeoboxes / SINE class	10892	protein-coding gene	gene with protein product		606326	sine oculis homeobox (Drosophila) homolog 6, sine oculis homeobox homolog 6 (Drosophila)	OPTX2	NA	10512683	Standard		NM_007374	NA	Approved	Six9	uc001xfa.4	O95475	OTTHUMG00000152339	ENST00000327720.5:c.732C>T	14.37:g.60977961C>T		NA	Q6NT42|Q9P1X8	37	CCDS9747.1																																																																																			SIX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276952.2		+	ENST00000327720.5	Silent	SNP	14 : 60977961 - 60977961 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	422	33
TESK2	10420	broad.mit.edu	37	1	45811107	45811107	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45811107C>T	ENST00000372086.3	-	11	1521	c.1121G>A	c.(1120-1122)cGt>cAt	p.R374H	TESK2_ENST00000372084.1_Missense_Mutation_p.R345H|TESK2_ENST00000538496.1_Missense_Mutation_p.R291H|TESK2_ENST00000341771.6_Missense_Mutation_p.R345H|TESK2_ENST00000486676.1_5'UTR	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	374					actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					TGGGGGCTTACGGGAAAAGAT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG	8,3988		0,8,1990	54	55	55		1121	-4.9	0.1	1		55	0,8294		0,0,4147	yes	missense	TESK2	NM_007170.2	29	0,8,6137	TT,TC,CC	NA	0.0,0.2002,0.0651	benign	374/572	45811107	8,12282	1998	4147	6145	SO:0001583	missense			AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	10420	10420	2.7.12.1		11732	protein-coding gene	gene with protein product		604746			NA	10512679	Standard	NM_007170	NM_007170	NA	Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.1121G>A	1.37:g.45811107C>T	ENSP00000361158:p.Arg374His	NA	Q5T423|Q8N520|Q9Y3Q6	37	CCDS41323.1	.	.	.	.	.	.	.	.	.	.	C	5.013	0.188162	0.09547	0.002002	0.0	ENSG00000070759	ENST00000372084;ENST00000372086;ENST00000372083;ENST00000341771;ENST00000538496	T;T;T;T	0.76316	-0.91;-0.75;-0.91;-1.01	5.96	-4.89	0.03103	.	0.861689	0.10499	N	0.667433	T	0.64549	0.2608	L	0.33485	1.01	0.09310	N	0.999995	B;B	0.16603	0.018;0.005	B;B	0.11329	0.006;0.002	T	0.46707	-0.9172	10	0.30854	T	0.27	1.9518	14.1925	0.65646	0.0:0.443:0.0:0.557	.	345;374	Q96S53-3;Q96S53	.;TESK2_HUMAN	H	345;374;358;345;291	ENSP00000361156:R345H;ENSP00000361158:R374H;ENSP00000343940:R345H;ENSP00000441746:R291H	ENSP00000343940:R345H	R	-	2	0	TESK2	45583694	0.999000	0.42202	0.070000	0.20053	0.149000	0.21700	0.757000	0.26433	-0.828000	0.04273	-0.136000	0.14681	CGT	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000020523.1		-	ENST00000372086.3	Missense_Mutation	SNP	1 : 45811107 - 45811107 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	316	26
ACTN2	88	broad.mit.edu	37	1	236902782	236902782	+	Missense_Mutation	SNP	C	C	T	rs1150181		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236902782C>T	ENST00000366578.4	+	10	1223	c.1057C>T	c.(1057-1059)Cgg>Tgg	p.R353W	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000542672.1_Missense_Mutation_p.R353W	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	353					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GACCAAGCTGCGGATCAGCAA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	100	109			NA	NA	1		NA											NA				236902782		2203	4300	6503	SO:0001583	missense			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522	88	88		EF-hand domain containing	164	protein-coding gene	gene with protein product		102573			NA	1339456	Standard	NM_001103	NM_001103	NA	Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1057C>T	1.37:g.236902782C>T	ENSP00000355537:p.Arg353Trp	NA	B1ANE4|Q86TF4|Q86TI8	37	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019319	0.75275	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000545611	T;T	0.70045	-0.45;-0.45	5.51	-1.38	0.09027	.	0.049402	0.64402	D	0.000001	D	0.84678	0.5525	M	0.93978	3.48	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.83275	0.989;0.916;0.996	D	0.89354	0.3663	10	0.87932	D	0	.	17.1506	0.86777	0.7646:0.2354:0.0:0.0	.	353;123;353	B2RCS5;Q59FD9;P35609	.;.;ACTN2_HUMAN	W	353;353;122	ENSP00000443495:R353W;ENSP00000355537:R353W	ENSP00000355537:R353W	R	+	1	2	ACTN2	234969405	0.006000	0.16342	0.998000	0.56505	0.994000	0.84299	-1.101000	0.03336	0.089000	0.17243	0.555000	0.69702	CGG	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096628.1		+	ENST00000366578.4	Missense_Mutation	SNP	1 : 236902782 - 236902782 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	363	56
CCDC101	112869	broad.mit.edu	37	16	28596992	28596992	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28596992C>T	ENST00000317058.3	+	4	362	c.175C>T	c.(175-177)Ctg>Ttg	p.L59L		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	59					establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						CCGGACAAAGCTGCGTGGCCT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	87	98			NA	NA	16		NA											NA				28596992		2197	4300	6497	SO:0001819	synonymous_variant			AK057008	CCDS10635.1	16p11.2	2010-08-03			ENSG00000176476	ENSG00000176476	112869	112869			25156	protein-coding gene	gene with protein product	SAGA-associated factor 29 homolog (yeast)	613374			NA	17334388	Standard	NM_138414	NM_138414	NA	Approved	FLJ32446, SGF29	uc002dqf.3	Q96ES7	OTTHUMG00000131763	ENST00000317058.3:c.175C>T	16.37:g.28596992C>T		NA	Q96MF5	37	CCDS10635.1																																																																																			CCDC101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254691.1		+	ENST00000317058.3	Silent	SNP	16 : 28596992 - 28596992 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	461	85
MYADM	91663	broad.mit.edu	37	19	54377221	54377221	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54377221C>T	ENST00000391769.2	+	3	718	c.438C>T	c.(436-438)atC>atT	p.I146I	MYADM_ENST00000391770.4_Silent_p.I146I|MYADM_ENST00000336967.3_Silent_p.I146I|MYADM_ENST00000391771.1_Silent_p.I146I|MYADM_ENST00000391768.2_Silent_p.I146I	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	146	MARVEL 1.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		TCTCCTGCATCGCGTGTGTGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	62	62			NA	NA	19		NA											NA				54377221		2203	4300	6503	SO:0001819	synonymous_variant			AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820	91663	91663			7544	protein-coding gene	gene with protein product		609959			NA	10733104, 12075932	Standard	NM_138373	NM_001020818	NA	Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.438C>T	19.37:g.54377221C>T		NA	B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	37	CCDS12866.1																																																																																			MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000134337.1		+	ENST00000391769.2	Silent	SNP	19 : 54377221 - 54377221 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	538	88
STXBP1	6812	broad.mit.edu	37	9	130425503	130425503	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130425503C>T	ENST00000373302.3	+	7	588	c.449C>T	c.(448-450)gCt>gTt	p.A150V	STXBP1_ENST00000373299.1_Missense_Mutation_p.A150V	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	150					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TTGGACTCTGCTGACTCTTTC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	95	94			NA	NA	9		NA											NA				130425503		2203	4300	6503	SO:0001583	missense			AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854	6812	6812			11444	protein-coding gene	gene with protein product	syntaxin-binding protein 1	602926			NA	9545644	Standard	NM_003165	NM_001032221	NA	Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373302.3:c.449C>T	9.37:g.130425503C>T	ENSP00000362399:p.Ala150Val	NA	B1AM97|Q28208|Q62759|Q64320|Q96TG8	37	CCDS6874.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038450	0.75617	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000373299	T;T	0.80480	-1.38;-1.38	5.64	5.64	0.86602	.	0.046500	0.85682	D	0.000000	T	0.67468	0.2896	N	0.08118	0	0.51233	D	0.999913	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.002	T	0.64381	-0.6421	10	0.66056	D	0.02	-0.806	17.2139	0.86937	0.0:1.0:0.0:0.0	.	150;150	P61764;P61764-2	STXB1_HUMAN;.	V	104;150;150	ENSP00000362399:A150V;ENSP00000362396:A150V	ENSP00000362396:A150V	A	+	2	0	STXBP1	129465324	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	7.598000	0.82745	2.661000	0.90470	0.561000	0.74099	GCT	STXBP1-001	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054228.1		+	ENST00000373302.3	Missense_Mutation	SNP	9 : 130425503 - 130425503 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	820	35
TRIM2	23321	broad.mit.edu	37	4	154216921	154216921	+	Missense_Mutation	SNP	A	A	G	rs111861590		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154216921A>G	ENST00000338700.5	+	6	1308	c.1243A>G	c.(1243-1245)Acc>Gcc	p.T415A	TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000437508.2_Missense_Mutation_p.T388A	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	388						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CAAGAACGGCACCTATGAGTT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	120	122			NA	NA	4		NA											NA				154216921		2203	4300	6503	SO:0001583	missense			AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654	23321	23321		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	15974	protein-coding gene	gene with protein product		614141	tripartite motif-containing 2		NA	9628581, 11331580	Standard		NM_015271	NA	Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000338700.5:c.1243A>G	4.37:g.154216921A>G	ENSP00000339659:p.Thr415Ala	NA	O60272|Q9BSI9|Q9UFZ1	37	CCDS3781.2	.	.	.	.	.	.	.	.	.	.	A	23.5	4.426009	0.83667	.	.	ENSG00000109654	ENST00000437508;ENST00000338700	D;D	0.87887	-2.31;-2.31	5.59	5.59	0.84812	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.043072	0.85682	D	0.000000	D	0.94860	0.8339	M	0.92077	3.27	0.80722	D	1	D;D	0.63046	0.992;0.992	D;D	0.74348	0.983;0.983	D	0.95673	0.8725	10	0.59425	D	0.04	-13.6538	15.7668	0.78131	1.0:0.0:0.0:0.0	.	415;388	D3DP09;Q9C040	.;TRIM2_HUMAN	A	388;415	ENSP00000415812:T388A;ENSP00000339659:T415A	ENSP00000339659:T415A	T	+	1	0	TRIM2	154436371	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.867000	0.92314	2.134000	0.65973	0.459000	0.35465	ACC	TRIM2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342649.3		+	ENST00000338700.5	Missense_Mutation	SNP	4 : 154216921 - 154216921 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	392	55
CCER1	196477	broad.mit.edu	37	12	91347597	91347597	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91347597T>C	ENST00000358859.2	-	1	1356	c.923A>G	c.(922-924)gAa>gGa	p.E308G	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1	NA											NA						ctcctcatcttcgacctcttc	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													215	186	196			NA	NA	12		NA											NA				91347597		2203	4300	6503	SO:0001583	missense			BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651	196477	196477			28373	protein-coding gene	gene with protein product			chromosome 12 open reading frame 12	C12orf12	NA	17967063	Standard	NM_152638	NM_152638	NA	Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.923A>G	12.37:g.91347597T>C	ENSP00000351727:p.Glu308Gly	NA		37	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	T	4.092	0.015149	0.07959	.	.	ENSG00000197651	ENST00000358859	T	0.37411	1.2	4.76	-5.08	0.02929	.	0.249561	0.20757	N	0.086240	T	0.16171	0.0389	N	0.19112	0.55	0.09310	N	1	P	0.42908	0.793	B	0.40375	0.327	T	0.21655	-1.0239	10	0.34782	T	0.22	-10.5853	4.7038	0.12839	0.1276:0.0823:0.5219:0.2682	.	308	Q8TC90	CL012_HUMAN	G	308	ENSP00000351727:E308G	ENSP00000351727:E308G	E	-	2	0	C12orf12	89871728	0.005000	0.15991	0.000000	0.03702	0.070000	0.16714	1.290000	0.33319	-0.717000	0.04955	-0.710000	0.03640	GAA	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407142.2		-	ENST00000358859.2	Missense_Mutation	SNP	12 : 91347597 - 91347597 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	542	49
KMT2A	4297	broad.mit.edu	37	11	118373499	118373499	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118373499G>A	ENST00000534358.1	+	27	6915	c.6892G>A	c.(6892-6894)Gac>Aac	p.D2298N	KMT2A_ENST00000389506.5_Missense_Mutation_p.D2295N|KMT2A_ENST00000354520.4_Missense_Mutation_p.D2257N	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A	NA											NA						CAGTGCTTCAGACTTGGTGTC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	64	65			NA	NA	11		NA											NA				118373499		2200	4296	6496	SO:0001583	missense			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058	4297	4297		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	7132	protein-coding gene	gene with protein product		159555	myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog), myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)	MLL	NA	1720549	Standard	NM_005933	NM_001197104	NA	Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000534358.1:c.6892G>A	11.37:g.118373499G>A	ENSP00000436786:p.Asp2298Asn	NA		37	CCDS55791.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.487517	0.44249	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.82711	-1.64;-1.64;-1.62	5.85	5.85	0.93711	.	0.271361	0.39083	N	0.001467	T	0.75874	0.3909	N	0.19112	0.55	0.46279	D	0.998968	P;P	0.49090	0.919;0.919	B;B	0.40901	0.343;0.343	T	0.79574	-0.1747	10	0.62326	D	0.03	.	20.1577	0.98120	0.0:0.0:1.0:0.0	.	2298;2295	E9PQG7;Q03164	.;MLL1_HUMAN	N	2298;2295;2257;1205	ENSP00000436786:D2298N;ENSP00000374157:D2295N;ENSP00000346516:D2257N	ENSP00000346516:D2257N	D	+	1	0	MLL	117878709	1.000000	0.71417	0.994000	0.49952	0.424000	0.31475	5.068000	0.64364	2.767000	0.95098	0.655000	0.94253	GAC	KMT2A-001	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389228.2		+	ENST00000534358.1	Missense_Mutation	SNP	11 : 118373499 - 118373499 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	421	73
MAGI2	9863	broad.mit.edu	37	7	77789563	77789563	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77789563C>T	ENST00000354212.4	-	16	2877	c.2624G>A	c.(2623-2625)aGt>aAt	p.S875N	MAGI2_ENST00000419488.1_Missense_Mutation_p.S861N|MAGI2_ENST00000522391.1_Missense_Mutation_p.S875N	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	875						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGAGCCTGGACTTCTCCCGTT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	115	117			NA	NA	7		NA											NA				77789563		2203	4300	6503	SO:0001583	missense			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391	9863	9863			18957	protein-coding gene	gene with protein product		606382			NA	10681527, 9734811	Standard	NM_012301	XM_005250725	NA	Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2624G>A	7.37:g.77789563C>T	ENSP00000346151:p.Ser875Asn	NA	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	37	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	34	5.344979	0.95807	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.11712	2.84;2.84;2.75	5.51	5.51	0.81932	.	0.000000	0.42548	U	0.000685	T	0.32010	0.0815	M	0.66939	2.045	0.80722	D	1	D;D;D	0.63880	0.985;0.99;0.993	P;D;P	0.63488	0.715;0.915;0.813	T	0.00822	-1.1552	10	0.54805	T	0.06	.	19.4065	0.94649	0.0:1.0:0.0:0.0	.	875;861;875	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	N	861;875;875;875	ENSP00000405766:S861N;ENSP00000346151:S875N;ENSP00000428389:S875N	ENSP00000346151:S875N	S	-	2	0	MAGI2	77627499	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.456000	0.80751	2.595000	0.87683	0.591000	0.81541	AGT	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253197.3		-	ENST00000354212.4	Missense_Mutation	SNP	7 : 77789563 - 77789563 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	343	67
TIMELESS	8914	broad.mit.edu	37	12	56811983	56811983	+	Missense_Mutation	SNP	C	C	T	rs145585280		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56811983C>T	ENST00000229201.4	-	27	3540	c.3386G>A	c.(3385-3387)cGa>cAa	p.R1129Q	TIMELESS_ENST00000554616.1_Missense_Mutation_p.R627Q|TIMELESS_ENST00000553532.1_Missense_Mutation_p.R1130Q	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	1130					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GGCTTGTGCTCGGTGCTCTTT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	162	171	168		3389	-5.1	0	12	dbSNP_134	168	1,8599	1.2+/-3.3	0,1,4299	no	missense	TIMELESS	NM_003920.3	43	0,2,6501	TT,TC,CC	NA	0.0116,0.0227,0.0154	benign	1130/1209	56811983	2,13004	2203	4300	6503	SO:0001583	missense			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602	8914	8914			11813	protein-coding gene	gene with protein product	Tof1 homolog (S. cerevisiae), timeless circadian clock 1	603887	timeless (Drosophila) homolog, timeless homolog (Drosophila)		NA	9856465	Standard	NM_003920	NM_003920	NA	Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000229201.4:c.3386G>A	12.37:g.56811983C>T	ENSP00000229201:p.Arg1129Gln	NA	B2ZAV0|O94802|Q86VM1|Q8IWH3	37		.	.	.	.	.	.	.	.	.	.	C	13.44	2.238406	0.39598	2.27E-4	1.16E-4	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.11277	2.79;2.79;2.79	5.37	-5.08	0.02929	Timeless C-terminal (1);	0.863170	0.10042	N	0.723288	T	0.03651	0.0104	N	0.04043	-0.29	0.09310	N	1	B	0.19331	0.035	B	0.10450	0.005	T	0.47699	-0.9097	10	0.13108	T	0.6	-0.0036	8.9244	0.35632	0.0:0.3483:0.1039:0.5478	.	1130	Q9UNS1	TIM_HUMAN	Q	1129;1130;627	ENSP00000229201:R1129Q;ENSP00000450607:R1130Q;ENSP00000450848:R627Q	ENSP00000229201:R1130Q	R	-	2	0	TIMELESS	55098250	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.142000	0.16096	-0.647000	0.05444	-0.126000	0.14955	CGA	TIMELESS-002	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000409772.2		-	ENST00000229201.4	Missense_Mutation	SNP	12 : 56811983 - 56811983 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1375	241
ARHGEF37	389337	broad.mit.edu	37	5	148999941	148999941	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148999941G>A	ENST00000333677.6	+	8	1082	c.919G>A	c.(919-921)Gaa>Aaa	p.E307K		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	307	BAR.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						CAGGCCGCACGAATACAATCT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	127	127			NA	NA	5		NA											NA				148999941		1931	4133	6064	SO:0001583	missense			BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111	389337	389337		Rho guanine nucleotide exchange factors	34430	protein-coding gene	gene with protein product					NA		Standard	NM_001001669	XM_005268448	NA	Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.919G>A	5.37:g.148999941G>A	ENSP00000328083:p.Glu307Lys	NA	Q6ZW51	37	CCDS43385.1	.	.	.	.	.	.	.	.	.	.	G	9.854	1.194412	0.22037	.	.	ENSG00000183111	ENST00000333677	T	0.58797	0.31	6.07	5.19	0.71726	BAR (2);	0.508022	0.22973	N	0.053418	T	0.54902	0.1887	M	0.75447	2.3	0.19300	N	0.999974	P	0.47962	0.903	B	0.43838	0.433	T	0.50457	-0.8826	10	0.11182	T	0.66	-0.0621	8.7577	0.34656	0.0787:0.1527:0.7685:0.0	.	307	A1IGU5	ARH37_HUMAN	K	307	ENSP00000328083:E307K	ENSP00000328083:E307K	E	+	1	0	ARHGEF37	148980134	0.815000	0.29118	0.153000	0.22517	0.012000	0.07955	2.143000	0.42187	1.553000	0.49476	0.650000	0.86243	GAA	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373763.1		+	ENST00000333677.6	Missense_Mutation	SNP	5 : 148999941 - 148999941 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	579	17
CGNL1	84952	broad.mit.edu	37	15	57731164	57731164	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:57731164G>A	ENST00000281282.5	+	2	1045	c.967G>A	c.(967-969)Gcc>Acc	p.A323T		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	323	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TGCCATCCATGCCGACAACGT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	54	56			NA	NA	15		NA											NA				57731164		2192	4292	6484	SO:0001583	missense			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849	84952	84952			25931	protein-coding gene	gene with protein product		607856			NA	11214970	Standard	NM_032866	NM_001252335	NA	Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.967G>A	15.37:g.57731164G>A	ENSP00000281282:p.Ala323Thr	NA	Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	37	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531946	0.85706	.	.	ENSG00000128849	ENST00000281282	T	0.49432	0.78	5.69	5.69	0.88448	.	0.000000	0.51477	D	0.000098	T	0.61640	0.2363	L	0.57536	1.79	0.39778	D	0.972257	D	0.57899	0.981	P	0.54924	0.764	T	0.64984	-0.6278	10	0.72032	D	0.01	-23.2504	19.8119	0.96549	0.0:0.0:1.0:0.0	.	323	Q0VF96	CGNL1_HUMAN	T	323	ENSP00000281282:A323T	ENSP00000281282:A323T	A	+	1	0	CGNL1	55518456	1.000000	0.71417	0.220000	0.23810	0.979000	0.70002	4.174000	0.58256	2.664000	0.90586	0.655000	0.94253	GCC	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255482.2		+	ENST00000281282.5	Missense_Mutation	SNP	15 : 57731164 - 57731164 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	268	48
IFT172	26160	broad.mit.edu	37	2	27670790	27670790	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27670790C>A	ENST00000260570.3	-	41	4532		c.e41-1			NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	NA					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TATTGAAGTTCTAGAGGTAGA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	75	76			NA	NA	2		NA											NA				27670790		2203	4300	6503	SO:0001630	splice_region_variant			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002	26160	26160		Intraflagellar transport homologs, WD repeat domain containing	30391	protein-coding gene	gene with protein product	wimple homolog	607386	intraflagellar transport 172 homolog (Chlamydomonas)		NA	10788441, 10574461, 24140113	Standard	NM_015662	XM_005264254	NA	Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.4429-1G>T	2.37:g.27670790C>A		NA	B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	37	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034579	0.75617	.	.	ENSG00000138002	ENST00000260570	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6508	0.88163	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IFT172	27524294	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.616000	0.61197	2.524000	0.85096	0.561000	0.74099	.	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250213.2	Intron	-	ENST00000260570.3	Splice_Site	SNP	2 : 27670790 - 27670790 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	248	72
MCOLN1	57192	broad.mit.edu	37	19	7591439	7591439	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7591439G>A	ENST00000264079.6	+	3	477	c.352G>A	c.(352-354)Gca>Aca	p.A118T		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	118					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGACACCTTCGCAGCCTACAC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	124	132			NA	NA	19		NA											NA				7591439		2203	4300	6503	SO:0001583	missense			AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674	57192	57192		Voltage-gated ion channels / Transient receptor potential cation channels	13356	protein-coding gene	gene with protein product		605248			NA	16382100	Standard	NM_020533	NM_020533	NA	Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.352G>A	19.37:g.7591439G>A	ENSP00000264079:p.Ala118Thr	NA	D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	37	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020411	0.93462	.	.	ENSG00000090674	ENST00000264079	T	0.61158	0.13	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.66616	0.2807	M	0.61703	1.905	0.80722	D	1	D	0.62365	0.991	P	0.53809	0.735	T	0.64283	-0.6444	10	0.32370	T	0.25	.	16.8808	0.86062	0.0:0.0:1.0:0.0	.	118	Q9GZU1	MCLN1_HUMAN	T	118	ENSP00000264079:A118T	ENSP00000264079:A118T	A	+	1	0	MCOLN1	7497439	1.000000	0.71417	0.119000	0.21687	0.983000	0.72400	7.659000	0.83766	2.572000	0.86782	0.655000	0.94253	GCA	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458974.2		+	ENST00000264079.6	Missense_Mutation	SNP	19 : 7591439 - 7591439 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	759	125
T	6862	broad.mit.edu	37	6	166580185	166580185	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:166580185G>A	ENST00000296946.2	-	3	834	c.366C>T	c.(364-366)tgC>tgT	p.C122C	T_ENST00000366871.3_Silent_p.C122C	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	122					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GGATGTAGACGCAGCTGGGCG	0.652		NA							Chordoma, Familial Clustering of				G	0	0	NA	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0	0	EXOME	NA	NA	4e-04	SNP								NA				0													50	55	53			NA	NA	6		NA											NA				166580185		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database		AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458	6862	6862		T-boxes	11515	protein-coding gene	gene with protein product		601397	T brachyury (mouse) homolog		NA	8963900	Standard	NM_003181	NM_003181	NA	Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.366C>T	6.37:g.166580185G>A		NA		37	CCDS5290.1																																																																																			T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043037.2		-	ENST00000296946.2	Silent	SNP	6 : 166580185 - 166580185 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	729	39
LRRC48	83450	broad.mit.edu	37	17	17907797	17907797	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17907797G>A	ENST00000399187.1	+	10	1338	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K	LRRC48_ENST00000399182.1_Missense_Mutation_p.E374K|LRRC48_ENST00000411504.2_Missense_Mutation_p.E374K|LRRC48_ENST00000313838.8_Missense_Mutation_p.E374K|LRRC48_ENST00000584166.1_Missense_Mutation_p.E374K	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	374						cytoplasm				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					GCAGCTGGTGGAGCAGCTGGA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	61	61			NA	NA	17		NA											NA				17907797		2151	4267	6418	SO:0001583	missense			AK093317	CCDS45622.1, CCDS45623.1	17p11.2	2014-07-18			ENSG00000171962	ENSG00000171962	83450	83450			25384	protein-coding gene	gene with protein product					NA	11997338, 23354437	Standard	NM_031294	NM_001130090	NA	Approved	DKFZP586M1120	uc021trk.1	Q9H069	OTTHUMG00000059355	ENST00000399187.1:c.1120G>A	17.37:g.17907797G>A	ENSP00000382140:p.Glu374Lys	NA	A8KAE6|Q86SF9|Q86W73|Q8IWG0	37	CCDS45622.1	.	.	.	.	.	.	.	.	.	.	G	34	5.311348	0.95655	.	.	ENSG00000171962	ENST00000313838;ENST00000448396;ENST00000411504;ENST00000399184;ENST00000399187;ENST00000399182;ENST00000399185	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.26	5.26	0.73747	.	0.270549	0.41605	N	0.000849	T	0.52256	0.1723	M	0.76838	2.35	0.80722	D	1	P;P	0.45283	0.773;0.855	B;B	0.41510	0.127;0.359	T	0.54596	-0.8270	10	0.23891	T	0.37	-29.2984	17.6257	0.88093	0.0:0.0:1.0:0.0	.	374;374	Q9H069;Q9H069-2	LRC48_HUMAN;.	K	374	ENSP00000326870:E374K;ENSP00000394020:E374K;ENSP00000382140:E374K;ENSP00000382136:E374K	ENSP00000326870:E374K	E	+	1	0	LRRC48	17848522	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.917000	0.63369	2.432000	0.82394	0.655000	0.94253	GAG	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131945.3		+	ENST00000399187.1	Missense_Mutation	SNP	17 : 17907797 - 17907797 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	85	13
MSL2	55167	broad.mit.edu	37	3	135870542	135870542	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:135870542G>A	ENST00000309993.2	-	2	1913	c.1181C>T	c.(1180-1182)aCa>aTa	p.T394I	MSL2_ENST00000434835.2_Missense_Mutation_p.T320I	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	394					histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						GATTTTAGGTGTTGTGCCTCC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	151	151			NA	NA	3		NA											NA				135870542		2203	4300	6503	SO:0001583	missense			AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579	55167	55167		RING-type (C3HC4) zinc fingers	25544	protein-coding gene	gene with protein product	male-specific lethal-2 homolog (Drosophila)	614802	ring finger protein 184, male-specific lethal 2-like 1 (Drosophila)	RNF184, MSL2L1	NA	16227571, 16543150	Standard	NM_018133	NM_018133	NA	Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.1181C>T	3.37:g.135870542G>A	ENSP00000311827:p.Thr394Ile	NA	Q0D2P1|Q8NDB4|Q9NVS4	37	CCDS33861.1	.	.	.	.	.	.	.	.	.	.	G	5.834	0.338085	0.11013	.	.	ENSG00000174579	ENST00000309993;ENST00000434835	.	.	.	5.84	4.06	0.47325	.	0.408916	0.26796	N	0.022447	T	0.22126	0.0533	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.14531	-1.0469	9	0.19590	T	0.45	-1.9985	11.9761	0.53091	0.14:0.0:0.86:0.0	.	394	Q9HCI7	MSL2_HUMAN	I	394;320	.	ENSP00000311827:T394I	T	-	2	0	MSL2	137353232	0.998000	0.40836	0.016000	0.15963	0.876000	0.50452	5.843000	0.69424	0.818000	0.34468	0.551000	0.68910	ACA	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357347.1		-	ENST00000309993.2	Missense_Mutation	SNP	3 : 135870542 - 135870542 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	515	95
DPP3	10072	broad.mit.edu	37	11	66249865	66249865	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66249865G>A	ENST00000532677.1	+	2	652	c.251G>A	c.(250-252)cGc>cAc	p.R84H	DPP3_ENST00000453114.1_Missense_Mutation_p.R65H|DPP3_ENST00000531863.1_Missense_Mutation_p.R85H|DPP3_ENST00000360510.2_Missense_Mutation_p.R65H|DPP3_ENST00000541961.1_Missense_Mutation_p.R65H|DPP3_ENST00000530165.1_Missense_Mutation_p.R65H	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	65					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTGCTCAGCCGCCTCTTCCGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	46	45			NA	NA	11		NA											NA				66249865		2200	4295	6495	SO:0001583	missense			AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	10072	10072	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	dipeptidylpeptidase III, dipeptidylpeptidase 3		NA	10773679	Standard		NM_005700	NA	Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000532677.1:c.251G>A	11.37:g.66249865G>A	ENSP00000435284:p.Arg84His	NA	B2RDB5|O95748|Q969H2|Q9BV67|Q9HAL6	37		.	.	.	.	.	.	.	.	.	.	G	24.3	4.518934	0.85495	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000526515;ENST00000530165;ENST00000347422;ENST00000531314;ENST00000531354	T;T;T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85	5.71	4.81	0.61882	.	0.155567	0.52532	N	0.000063	T	0.66147	0.2760	M	0.75615	2.305	0.42527	D	0.993026	D;D	0.89917	1.0;0.981	D;P	0.67900	0.954;0.548	T	0.70883	-0.4751	10	0.72032	D	0.01	.	12.79	0.57528	0.0792:0.0:0.9208:0.0	.	84;65	G3V1D3;Q9NY33	.;DPP3_HUMAN	H	85;84;65;65;65;65;65;65;65;65	ENSP00000432782:R85H;ENSP00000435284:R84H;ENSP00000353701:R65H;ENSP00000389943:R65H;ENSP00000440502:R65H;ENSP00000431606:R65H;ENSP00000436941:R65H;ENSP00000436820:R65H;ENSP00000432618:R65H	ENSP00000309957:R65H	R	+	2	0	DPP3	66006441	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.129000	0.42055	1.426000	0.47256	-0.222000	0.12452	CGC	DPP3-001	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000393423.1		+	ENST00000532677.1	Missense_Mutation	SNP	11 : 66249865 - 66249865 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	406	12
AK7	122481	broad.mit.edu	37	14	96904235	96904235	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96904235T>C	ENST00000267584.4	+	6	717	c.673T>C	c.(673-675)Tta>Cta	p.L225L		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	225					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		AGGAGGCATGTTACACACATT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	94	93			NA	NA	14		NA											NA				96904235		2203	4300	6503	SO:0001819	synonymous_variant			AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057	122481	122481		Adenylate kinases	20091	protein-coding gene	gene with protein product		615364			NA		Standard		NM_152327	NA	Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.673T>C	14.37:g.96904235T>C		NA	Q8IYP6	37	CCDS9945.1																																																																																			AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413340.1		+	ENST00000267584.4	Silent	SNP	14 : 96904235 - 96904235 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	311	7
SAFB	6294	broad.mit.edu	37	19	5641869	5641869	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5641869C>A	ENST00000292123.5	+	4	565	c.458C>A	c.(457-459)gCt>gAt	p.A153D	SAFB_ENST00000588852.1_Missense_Mutation_p.A153D|SAFB_ENST00000454510.1_Intron|SAFB_ENST00000538656.1_Intron|SAFB_ENST00000592224.1_Missense_Mutation_p.A153D|SAFB_ENST00000586934.1_3'UTR|SAFB_ENST00000433404.1_5'UTR	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	153					chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GACGATGATGCTGATAACCTC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(88;338 1345 6184 8214 20897)							NA				0													131	127	129			NA	NA	19		NA											NA				5641869		2203	4300	6503	SO:0001583	missense			L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633	6294	6294		RNA binding motif (RRM) containing	10520	protein-coding gene	gene with protein product	Hsp27 ERE-TATA binding protein	602895			NA	9605873, 8600450	Standard		NM_002967	NA	Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.458C>A	19.37:g.5641869C>A	ENSP00000292123:p.Ala153Asp	NA	O60406|Q59HH8	37	CCDS12142.1	.	.	.	.	.	.	.	.	.	.	C	6.482	0.457123	0.12283	.	.	ENSG00000160633	ENST00000292123	T	0.11712	2.75	5.47	4.42	0.53409	.	0.242758	0.29501	N	0.011962	T	0.12987	0.0315	M	0.62723	1.935	0.48571	D	0.999677	B;B;B;B;B	0.27823	0.023;0.19;0.052;0.052;0.052	B;B;B;B;B	0.27608	0.013;0.081;0.021;0.028;0.021	T	0.04737	-1.0930	10	0.17369	T	0.5	-5.9997	13.5464	0.61707	0.1611:0.8389:0.0:0.0	.	153;153;153;153;153	B7ZLP5;B7Z2H3;A0AV56;Q15424;B7ZLP6	.;.;.;SAFB1_HUMAN;.	D	153	ENSP00000292123:A153D	ENSP00000292123:A153D	A	+	2	0	SAFB	5592869	0.025000	0.19082	0.015000	0.15790	0.350000	0.29205	2.814000	0.48010	1.239000	0.43787	0.557000	0.71058	GCT	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451641.2		+	ENST00000292123.5	Missense_Mutation	SNP	19 : 5641869 - 5641869 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	555	99
CD163L1	283316	broad.mit.edu	37	12	7559140	7559140	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7559140C>T	ENST00000416109.2	-	5	1123	c.1105G>A	c.(1105-1107)Gtg>Atg	p.V369M	CD163L1_ENST00000313599.3_Missense_Mutation_p.V359M|CD163L1_ENST00000396630.1_Missense_Mutation_p.V359M	NM_174941.4	NP_777601.2	Q9NR16	C163B_HUMAN	CD163 molecule-like 1	359	SRCR 4.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GAGCAGATCACAGACACATCG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	67	69			NA	NA	12		NA											NA				7559140		2203	4300	6503	SO:0001583	missense			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675	283316	283316			30375	protein-coding gene	gene with protein product		606079	CD163 antigen-like 1		NA	11124526, 11086079	Standard	NM_174941	XM_005253348	NA	Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000416109.2:c.1105G>A	12.37:g.7559140C>T	ENSP00000393474:p.Val369Met	NA	C9JHR7|Q6UWC2	37		.	.	.	.	.	.	.	.	.	.	C	17.26	3.345579	0.61073	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.56776	0.44;0.44;0.44	1.88	1.88	0.25563	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.73187	0.3555	M	0.89414	3.03	0.27534	N	0.950993	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.983	T	0.62478	-0.6846	9	0.87932	D	0	.	9.7292	0.40350	0.0:1.0:0.0:0.0	.	369;359	E7EVK4;Q9NR16	.;C163B_HUMAN	M	359;369;359	ENSP00000315945:V359M;ENSP00000393474:V369M;ENSP00000379871:V359M	ENSP00000315945:V359M	V	-	1	0	CD163L1	7450407	0.905000	0.30787	0.082000	0.20525	0.798000	0.45092	1.981000	0.40628	1.333000	0.45449	0.455000	0.32223	GTG	CD163L1-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000399330.1		-	ENST00000416109.2	Missense_Mutation	SNP	12 : 7559140 - 7559140 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	302	51
SLFN12L	100506736	broad.mit.edu	37	17	33806674	33806674	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33806674G>T	ENST00000260908.7	-	2	672	c.555C>A	c.(553-555)gcC>gcA	p.A185A	SLFN12L_ENST00000361112.4_Silent_p.A214A|SLFN12L_ENST00000449046.1_Silent_p.A216A	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	217						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						CATCAACACAGGCCCTTTTTG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	54	59			NA	NA	17		NA											NA				33806674		692	1591	2283	SO:0001819	synonymous_variant			AK172761	CCDS56026.1	17q12	2011-05-24				ENSG00000205045	100506736	100506736			33920	protein-coding gene	gene with protein product		614956			NA	9846487	Standard	XM_496206	NM_001195790	NA	Approved		uc021tuy.1	Q6IEE8		ENST00000260908.7:c.555C>A	17.37:g.33806674G>T		NA		37	CCDS56026.1																																																																																			SLFN12L-004	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395748.2		-	ENST00000260908.7	Silent	SNP	17 : 33806674 - 33806674 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	139	24
RNF215	200312	broad.mit.edu	37	22	30782666	30782666	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30782666T>C	ENST00000382363.3	-	2	442	c.368A>G	c.(367-369)cAg>cGg	p.Q123R		NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	123						integral to membrane	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						CTGGTGGAACTGGGCCGCCTG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	63	63			NA	NA	22		NA											NA				30782666		2203	4300	6503	SO:0001583	missense				CCDS33633.1	22q12.2	2013-01-09			ENSG00000099999	ENSG00000099999	200312	200312		RING-type (C3HC4) zinc fingers	33434	protein-coding gene	gene with protein product					NA		Standard	NM_001017981	NM_001017981	NA	Approved		uc003ahp.3	Q9Y6U7	OTTHUMG00000151016	ENST00000382363.3:c.368A>G	22.37:g.30782666T>C	ENSP00000371800:p.Gln123Arg	NA	A6NEL1	37	CCDS33633.1	.	.	.	.	.	.	.	.	.	.	T	15.84	2.951642	0.53186	.	.	ENSG00000099999	ENST00000382363;ENST00000431544	T	0.18338	2.22	4.14	1.8	0.24995	.	0.000000	0.31821	N	0.007003	T	0.09024	0.0223	N	0.14661	0.345	0.80722	D	1	B	0.12013	0.005	B	0.12156	0.007	T	0.20438	-1.0275	10	0.37606	T	0.19	-0.0969	8.0584	0.30619	0.0:0.0:0.4105:0.5895	.	123	Q9Y6U7	RN215_HUMAN	R	123;28	ENSP00000371800:Q123R	ENSP00000371800:Q123R	Q	-	2	0	RNF215	29112666	0.998000	0.40836	0.998000	0.56505	0.978000	0.69477	0.145000	0.16157	0.199000	0.20427	0.529000	0.55759	CAG	RNF215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320960.1		-	ENST00000382363.3	Missense_Mutation	SNP	22 : 30782666 - 30782666 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	416	77
ADAMTS12	81792	broad.mit.edu	37	5	33614342	33614342	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33614342C>T	ENST00000504830.1	-	16	2863		c.e16+1		ADAMTS12_ENST00000504582.1_Splice_Site|ADAMTS12_ENST00000352040.3_Splice_Site	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	NA					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTGTTTCTCACCTGTCCCGCA	0.507		NA								HNSCC(64;0.19)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	94	107			NA	NA	5		NA											NA				33614342		2203	4300	6503	SO:0001630	splice_region_variant			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388	81792	81792		ADAM metallopeptidases with thrombospondin type 1 motif	14605	protein-coding gene	gene with protein product		606184	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12		NA	11279086	Standard	NM_030955	NM_030955	NA	Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2527+1G>A	5.37:g.33614342C>T		NA	A2RRN9|A5D6V6|Q6UWL3	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414237	0.83449	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5024	0.95100	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAMTS12	33650099	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	7.790000	0.85794	2.699000	0.92147	0.561000	0.74099	.	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367164.2	Intron	-	ENST00000504830.1	Splice_Site	SNP	5 : 33614342 - 33614342 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	145	18
DHX57	90957	broad.mit.edu	37	2	39053104	39053104	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39053104G>A	ENST00000295373.6	-	16	3025	c.2899C>T	c.(2899-2901)Cgt>Tgt	p.R967C		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	967	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GATGCAACACGGCCTGCTCGG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(191;1090 2095 4375 23729 47341)							NA				0													102	97	99			NA	NA	2		NA											NA				39053104		2203	4300	6503	SO:0001583	missense			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214	90957	90957		DEAH-boxes	20086	protein-coding gene	gene with protein product					NA		Standard	NM_145646	NM_198963	NA	Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.2899C>T	2.37:g.39053104G>A	ENSP00000295373:p.Arg967Cys	NA	A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	37	CCDS1800.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.185001|5.185001	0.94885|0.94885	.|.	.|.	ENSG00000163214|ENSG00000163214	ENST00000452978|ENST00000295373	.|D	.|0.94793	.|-3.52	5.66|5.66	5.66|5.66	0.87406|0.87406	.|Helicase, C-terminal (3);	.|0.000000	.|0.56097	.|D	.|0.000036	D|D	0.98551|0.98551	0.9516|0.9516	H|H	0.98155|0.98155	4.16|4.16	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.99379|0.99379	1.0922|1.0922	5|10	.|0.87932	.|D	.|0	.|.	19.7628|19.7628	0.96329|0.96329	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|967;359	.|Q6P158;Q59G60	.|DHX57_HUMAN;.	L|C	290|967	.|ENSP00000295373:R967C	.|ENSP00000295373:R967C	P|R	-|-	2|1	0|0	DHX57|DHX57	38906608|38906608	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.338000|9.338000	0.96553|0.96553	2.672000|2.672000	0.90937|0.90937	0.555000|0.555000	0.69702|0.69702	CCG|CGT	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219940.2		-	ENST00000295373.6	Missense_Mutation	SNP	2 : 39053104 - 39053104 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	472	120
EML3	256364	broad.mit.edu	37	11	62376231	62376231	+	Missense_Mutation	SNP	C	C	T	rs149696913		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62376231C>T	ENST00000394773.2	-	8	1283	c.976G>A	c.(976-978)Gct>Act	p.A326T	EML3_ENST00000529309.1_Missense_Mutation_p.A326T|EML3_ENST00000494176.2_Missense_Mutation_p.A298T|EML3_ENST00000531557.1_Missense_Mutation_p.A109T|EML3_ENST00000278845.4_Missense_Mutation_p.A327T	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	326						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCCACTCCAGCTGTCTGTCCC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	THR/ALA	1,4403	2.1+/-5.4	0,1,2201	157	140	145		976	5.6	1	11	dbSNP_134	145	0,8598		0,0,4299	no	missense	EML3	NM_153265.2	58	0,1,6500	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging	326/897	62376231	1,13001	2202	4299	6501	SO:0001583	missense			AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499	256364	256364		WD repeat domain containing	26666	protein-coding gene	gene with protein product					NA	15225882, 14744259	Standard	NM_153265	NM_153265	NA	Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.976G>A	11.37:g.62376231C>T	ENSP00000378254:p.Ala326Thr	NA	Q6ZQW7|Q8NA55	37	CCDS8023.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.9|24.9	4.586654|4.586654	0.86851|0.86851	2.27E-4|2.27E-4	0.0|0.0	ENSG00000149499|ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000531557;ENST00000494176;ENST00000529309|ENST00000394776	T;T;T;T;T|.	0.33438|.	1.5;1.46;1.41;1.47;1.41|.	5.55|5.55	5.55|5.55	0.83447|0.83447	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73892|0.73892	0.3645|0.3645	M|M	0.67700|0.67700	2.07|2.07	0.58432|0.58432	D|D	0.999999|0.999999	D;D;P;D;D|.	0.89917|.	1.0;1.0;0.936;0.997;0.997|.	D;D;P;D;D|.	0.91635|.	0.999;0.999;0.535;0.989;0.942|.	T|T	0.72377|0.72377	-0.4312|-0.4312	10|5	0.66056|.	D|.	0.02|.	-7.5773|-7.5773	17.0083|17.0083	0.86399|0.86399	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	326;326;109;327;298|.	Q32P44-2;Q32P44;G3V195;B7WPE2;G3V1D0|.	.;EMAL3_HUMAN;.;.;.|.	T|N	326;327;109;298;326|320	ENSP00000378254:A326T;ENSP00000278845:A327T;ENSP00000433417:A109T;ENSP00000435064:A298T;ENSP00000434513:A326T|.	ENSP00000278845:A327T|.	A|S	-|-	1|2	0|0	EML3|EML3	62132807|62132807	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.571000|0.571000	0.35966|0.35966	5.539000|5.539000	0.67199|0.67199	2.618000|2.618000	0.88619|0.88619	0.655000|0.655000	0.94253|0.94253	GCT|AGC	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313432.1		-	ENST00000394773.2	Missense_Mutation	SNP	11 : 62376231 - 62376231 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	562	89
POLR2A	5430	broad.mit.edu	37	17	7406566	7406566	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7406566G>T	ENST00000322644.6	+	17	3282	c.2883G>T	c.(2881-2883)gaG>gaT	p.E961D		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	961					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GGATGCGGGAGGATCGGGAGG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	127	129			NA	NA	17		NA											NA				7406566		2203	4300	6503	SO:0001583	missense					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	5430	5430	2.7.7.6	RNA polymerase subunits	9187	protein-coding gene	gene with protein product	DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit, RNA polymerase II subunit B1	180660	polymerase (RNA) II (DNA directed) polypeptide A (220kD)	POLR2	NA		Standard	NM_000937	NM_000937	NA	Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.2883G>T	17.37:g.7406566G>T	ENSP00000314949:p.Glu961Asp	NA	A6NN93|B9EH88	37	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536290	0.45176	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.68025	-0.3	5.25	4.27	0.50696	RNA polymerase Rpb1, domain 6 (1);RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	T	0.52996	0.1769	N	0.25992	0.78	0.80722	D	1	B	0.14012	0.009	B	0.17979	0.02	T	0.50591	-0.8810	10	0.40728	T	0.16	-15.1705	12.3295	0.55031	0.0844:0.0:0.9156:0.0	.	961	P24928	RPB1_HUMAN	D	917;961	ENSP00000314949:E961D	ENSP00000314949:E961D	E	+	3	2	SLC35G6	7347290	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.610000	0.67668	1.557000	0.49525	0.655000	0.94253	GAG	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437967.1		+	ENST00000322644.6	Missense_Mutation	SNP	17 : 7406566 - 7406566 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	310	52
TENM3	55714	broad.mit.edu	37	4	183676061	183676061	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:183676061C>T	ENST00000511685.1	+	22	4664	c.4541C>T	c.(4540-4542)gCg>gTg	p.A1514V	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.A1514V					teneurin transmembrane protein 3	NA											NA						TATGAAGTTGCGTCTCCAACT	0.388		NA											C	3	0.0014	NA	0.01	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0014	1	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				0								C	VAL/ALA	0,3814		0,0,1907	80	80	80		4541	5.2	1	4		80	2,8230		0,2,4114	yes	missense	ODZ3	NM_001080477.1	64	0,2,6021	TT,TC,CC	NA	0.0243,0.0,0.0166	benign	1514/2700	183676061	2,12044	1907	4116	6023	SO:0001583	missense			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336	55714	55714			29944	protein-coding gene	gene with protein product		610083	odz, odd Oz/ten-m homolog 3 (Drosophila)	ODZ3	NA	10331952, 10625539	Standard		NM_001080477	NA	Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.4541C>T	4.37:g.183676061C>T	ENSP00000424226:p.Ala1514Val	NA		37	CCDS47165.1	3	0.0013736263736263737	0	0.0	3	0.008287292817679558	0	0.0	0	0.0	C	26.6	4.757687	0.89843	0.0	2.43E-4	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.15603	2.41;2.41	5.25	5.25	0.73442	.	.	.	.	.	T	0.30696	0.0773	L	0.58302	1.8	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.00817	-1.1554	9	0.33940	T	0.23	.	19.0324	0.92963	0.0:1.0:0.0:0.0	.	1514	Q9P273	TEN3_HUMAN	V	1514	ENSP00000424226:A1514V;ENSP00000385276:A1514V	ENSP00000385276:A1514V	A	+	2	0	ODZ3	183913055	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.651000	0.83577	2.737000	0.93849	0.563000	0.77884	GCG	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361734.1		+	ENST00000511685.1	Missense_Mutation	SNP	4 : 183676061 - 183676061 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	286	28
NCAPD3	23310	broad.mit.edu	37	11	134079098	134079098	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134079098G>A	ENST00000534548.2	-	6	799	c.735C>T	c.(733-735)gtC>gtT	p.V245V		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	245					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ATGAAACAAAGACCTAGAAAA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	130	125			NA	NA	11		NA											NA				134079098		2201	4297	6498	SO:0001819	synonymous_variant			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503	23310	23310			28952	protein-coding gene	gene with protein product		609276			NA	7584044, 8619474, 14532007	Standard	NM_015261	NM_015261	NA	Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.735C>T	11.37:g.134079098G>A		NA	A6NFS2|Q4KMQ9	37	CCDS31723.1																																																																																			NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393575.2		-	ENST00000534548.2	Silent	SNP	11 : 134079098 - 134079098 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	858	158
LRP4	4038	broad.mit.edu	37	11	46911059	46911059	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46911059G>A	ENST00000378623.1	-	16	2360	c.2118C>T	c.(2116-2118)aaC>aaT	p.N706N		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	706	EGF-like 3.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TGCAGCCTCCGTTGTTGTCCC	0.587		NA									OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	72	73			NA	NA	11		NA											NA				46911059		2201	4299	6500	SO:0001819	synonymous_variant			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569	4038	4038		Low density lipoprotein receptors	6696	protein-coding gene	gene with protein product		604270			NA	9693030	Standard	NM_002334	NM_002334	NA	Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.2118C>T	11.37:g.46911059G>A		942	B2RN39|Q4AC85|Q5KTZ5	37	CCDS31478.1																																																																																			LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391133.1		-	ENST00000378623.1	Silent	SNP	11 : 46911059 - 46911059 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	639	127
HECTD1	25831	broad.mit.edu	37	14	31618318	31618318	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31618318A>G	ENST00000399332.1	-	14	2692	c.2204T>C	c.(2203-2205)gTa>gCa	p.V735A	HECTD1_ENST00000553700.1_Missense_Mutation_p.V735A	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	735					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AGATGGCTTTACTTGGCCTCG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	124	130			NA	NA	14		NA											NA				31618318		1870	4105	5975	SO:0001583	missense			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148	25831	25831		Ankyrin repeat domain containing	20157	protein-coding gene	gene with protein product			HECT domain containing 1		NA	10574461	Standard		XM_005267502	NA	Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.2204T>C	14.37:g.31618318A>G	ENSP00000382269:p.Val735Ala	NA	Q6P445|Q86VJ1|Q96F34|Q9UFZ7	37	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.717245	0.89205	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957;ENST00000556224	T;T;T;T	0.19532	2.14;2.14;2.14;2.14	5.71	5.71	0.89125	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.40119	0.1104	L	0.58810	1.83	0.80722	D	1	D;P	0.55605	0.972;0.924	P;P	0.59424	0.675;0.857	T	0.12811	-1.0533	10	0.54805	T	0.06	-15.8141	15.9701	0.80008	1.0:0.0:0.0:0.0	.	735;735	D3DS86;Q9ULT8	.;HECD1_HUMAN	A	735;735;735;209;735	ENSP00000450697:V735A;ENSP00000382269:V735A;ENSP00000451860:V209A;ENSP00000452015:V735A	ENSP00000261312:V735A	V	-	2	0	HECTD1	30688069	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.317000	0.96327	2.166000	0.68216	0.528000	0.53228	GTA	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409942.1		-	ENST00000399332.1	Missense_Mutation	SNP	14 : 31618318 - 31618318 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	235	46
ACVR1C	130399	broad.mit.edu	37	2	158399284	158399284	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:158399284G>A	ENST00000243349.8	-	6	1394	c.1034C>T	c.(1033-1035)gCt>gTt	p.A345V	ACVR1C_ENST00000409680.3_Missense_Mutation_p.A295V|ACVR1C_ENST00000335450.7_Missense_Mutation_p.A265V|ACVR1C_ENST00000348328.5_Missense_Mutation_p.A188V	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	NA	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						ATGCTTCACAGCCAACCCTAA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													237	215	223			NA	NA	2		NA											NA				158399284		2203	4300	6503	SO:0001583	missense			BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612	130399	130399			18123	protein-coding gene	gene with protein product		608981			NA		Standard	NM_145259	NM_145259	NA	Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.1034C>T	2.37:g.158399284G>A	ENSP00000243349:p.Ala345Val	NA	Q4ZFZ8|Q86UL1|Q86UL2|Q8TBG2	37	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	G	36	5.663136	0.96745	.	.	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000348328;ENST00000335450	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.77	5.77	0.91146	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000088	D	0.91023	0.7176	H	0.95745	3.715	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.997	D	0.92740	0.6207	10	0.87932	D	0	.	19.9422	0.97170	0.0:0.0:1.0:0.0	.	188;265;345	Q8NER5-2;Q8NER5-3;Q8NER5	.;.;ACV1C_HUMAN	V	345;295;188;265	ENSP00000243349:A345V;ENSP00000387168:A295V;ENSP00000335139:A188V;ENSP00000335178:A265V	ENSP00000243349:A345V	A	-	2	0	ACVR1C	158107530	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.890000	0.99128	0.650000	0.86243	GCT	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254924.2		-	ENST00000243349.8	Missense_Mutation	SNP	2 : 158399284 - 158399284 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	677	134
ETNPPL	64850	broad.mit.edu	37	4	109681389	109681389	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:109681389C>T	ENST00000510706.1	-	2	306	c.10G>A	c.(10-12)Gag>Aag	p.E4K	ETNPPL_ENST00000411864.2_Missense_Mutation_p.E44K|ETNPPL_ENST00000512646.1_Intron|ETNPPL_ENST00000296486.3_Missense_Mutation_p.E44K					ethanolamine-phosphate phospho-lyase	NA											NA						TCACCGTTCTCATCAAACATG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	145	148			NA	NA	4		NA											NA				109681389		2203	4300	6503	SO:0001583	missense			AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	64850	64850	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	alanine-glyoxylate aminotransferase 2-like 1	AGXT2L1	NA	7592550, 22241472	Standard	NM_031279	NM_031279	NA	Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000510706.1:c.10G>A	4.37:g.109681389C>T	ENSP00000423240:p.Glu4Lys	NA		37		.	.	.	.	.	.	.	.	.	.	C	25.2	4.612301	0.87258	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000510706	D;D;D	0.85773	-2.03;-2.03;-2.03	5.46	4.62	0.57501	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.92159	0.7514	M	0.84773	2.715	0.80722	D	1	P;D	0.76494	0.877;0.999	P;D	0.67382	0.535;0.951	D	0.92730	0.6199	9	.	.	.	-30.9791	14.1904	0.65635	0.0:0.9277:0.0:0.0723	.	44;44	Q8TBG4-2;Q8TBG4	.;AT2L1_HUMAN	K	44;44;4	ENSP00000296486:E44K;ENSP00000392269:E44K;ENSP00000423240:E4K	.	E	-	1	0	AGXT2L1	109900838	1.000000	0.71417	0.990000	0.47175	0.791000	0.44710	7.764000	0.85297	1.306000	0.44926	-0.253000	0.11424	GAG	ETNPPL-001	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000363507.1		-	ENST00000510706.1	Missense_Mutation	SNP	4 : 109681389 - 109681389 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	539	95
KCNK13	56659	broad.mit.edu	37	14	90650750	90650750	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90650750C>A	ENST00000282146.4	+	2	1071	c.630C>A	c.(628-630)tgC>tgA	p.C210*		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	210						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TCATCTCTTGCTGCGCCTCAG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	141	149			NA	NA	14		NA											NA				90650750		2203	4300	6503	SO:0001587	stop_gained			AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315	56659	56659		Potassium channels, Voltage-gated ion channels / Potassium channels, Two-P	6275	protein-coding gene	gene with protein product		607367			NA	11060316, 16382106	Standard	NM_022054	NM_022054	NA	Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.630C>A	14.37:g.90650750C>A	ENSP00000282146:p.Cys210*	NA	Q96E79	37	CCDS9889.1	.	.	.	.	.	.	.	.	.	.	C	36	5.716592	0.96830	.	.	ENSG00000152315	ENST00000282146	.	.	.	5.31	4.41	0.53225	.	0.000000	0.45126	D	0.000387	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.074	0.36511	0.0:0.7791:0.0:0.2209	.	.	.	.	X	210	.	ENSP00000282146:C210X	C	+	3	2	KCNK13	89720503	1.000000	0.71417	0.996000	0.52242	0.326000	0.28443	0.957000	0.29215	2.476000	0.83614	0.655000	0.94253	TGC	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411251.1		+	ENST00000282146.4	Nonsense_Mutation	SNP	14 : 90650750 - 90650750 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1009	164
NFE2	4778	broad.mit.edu	37	12	54686881	54686881	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54686881T>C	ENST00000540264.2	-	2	908	c.399A>G	c.(397-399)gcA>gcG	p.A133A	RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Silent_p.A133A|NFE2_ENST00000435572.2_Silent_p.A133A|NFE2_ENST00000312156.4_Silent_p.A133A			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	133	Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						TAGGTGGCCCTGCTGGCAGCC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	107	105			NA	NA	12		NA											NA				54686881		2203	4300	6503	SO:0001819	synonymous_variant			BC005044	CCDS8876.1	12q13	2013-08-23	2013-08-23			ENSG00000123405	4778	4778		basic leucine zipper proteins	7780	protein-coding gene	gene with protein product		601490	nuclear factor (erythroid-derived 2), 45kD, nuclear factor (erythroid-derived 2), 45kDa		NA	8355703	Standard	NM_006163	NM_001136023	NA	Approved	NF-E2	uc001sfr.5	Q16621		ENST00000540264.2:c.399A>G	12.37:g.54686881T>C		NA	Q07720|Q6ICV9	37	CCDS8876.1																																																																																			NFE2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405747.1		-	ENST00000540264.2	Silent	SNP	12 : 54686881 - 54686881 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	829	145
PLXNA2	5362	broad.mit.edu	37	1	208213029	208213029	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208213029G>A	ENST00000367033.3	-	24	5194	c.4437C>T	c.(4435-4437)ggC>ggT	p.G1479G		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1479					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AGCGGGCCTCGCCCGTGATGG	0.617		NA											G	3	0.0014	NA	NA	2184	0.0017	1	,	,	NA	3e-04	0.0026	NA	NA	0.0013	0.9839	LOWCOV,EXOME	NA	NA	2e-04	SNP								NA				0													89	85	86			NA	NA	1		NA											NA				208213029		2203	4300	6503	SO:0001819	synonymous_variant			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356	5362	5362		Plexins	9100	protein-coding gene	gene with protein product	plexin 2, plexin-A2, semaphorin receptor OCT, transmembrane protein OCT	601054		PLXN2	NA	8570614	Standard	NM_025179	NM_025179	NA	Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.4437C>T	1.37:g.208213029G>A		NA	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	37	CCDS31013.1																																																																																			PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088932.6		-	ENST00000367033.3	Silent	SNP	1 : 208213029 - 208213029 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	578	153
CCDC114	93233	broad.mit.edu	37	19	48800327	48800327	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48800327C>T	ENST00000315396.7	-	14	2601	c.1919G>A	c.(1918-1920)gGa>gAa	p.G640E		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	640	Ser-rich.									cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CCCGAGGCCTCCGCTCGAATC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	64	64			NA	NA	19		NA											NA				48800327		2203	4300	6503	SO:0001583	missense			BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479	93233	93233			26560	protein-coding gene	gene with protein product		615038			NA	23261302, 23261303	Standard	NM_144577	NM_144577	NA	Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.1919G>A	19.37:g.48800327C>T	ENSP00000318429:p.Gly640Glu	NA	Q6ZRL4|Q96M06|Q9UFG8	37	CCDS12714.2	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969332	0.53614	.	.	ENSG00000105479	ENST00000315396	T	0.26518	1.73	3.6	2.56	0.30785	.	.	.	.	.	T	0.24586	0.0596	L	0.29908	0.895	0.09310	N	0.999999	D	0.63046	0.992	P	0.51806	0.68	T	0.06972	-1.0797	9	0.56958	D	0.05	-3.013	5.9822	0.19413	0.0:0.8585:0.0:0.1415	.	640	Q96M63	CC114_HUMAN	E	640	ENSP00000318429:G640E	ENSP00000318429:G640E	G	-	2	0	CCDC114	53492139	0.584000	0.26766	0.115000	0.21578	0.012000	0.07955	0.856000	0.27818	1.931000	0.55961	0.655000	0.94253	GGA	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343207.1		-	ENST00000315396.7	Missense_Mutation	SNP	19 : 48800327 - 48800327 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	556	90
PRAMEF12	390999	broad.mit.edu	37	1	12836043	12836043	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12836043G>A	ENST00000357726.4	+	2	672	c.645G>A	c.(643-645)gaG>gaA	p.E215E		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	215										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCGTGGGAGCTGTCCATTC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	163	161			NA	NA	1		NA											NA				12836043		2203	4300	6503	SO:0001819	synonymous_variant				CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726	390999	390999		-	22125	protein-coding gene	gene with protein product					NA		Standard	XM_372760	NM_001080830	NA	Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.645G>A	1.37:g.12836043G>A		NA		37	CCDS41254.1																																																																																			PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005457.1		+	ENST00000357726.4	Silent	SNP	1 : 12836043 - 12836043 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	660	60
GPX5	2880	broad.mit.edu	37	6	28497272	28497272	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28497272G>T	ENST00000412168.2	+	2	221	c.132G>T	c.(130-132)gaG>gaT	p.E44D	GPX5_ENST00000469384.1_Missense_Mutation_p.E44D|GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	44					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	ATGACTATGAGGCCATCGCAC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	141	151			NA	NA	6		NA											NA				28497272		2203	4300	6503	SO:0001583	missense			AJ005277	CCDS4652.1, CCDS4653.1	6p22.1	2008-02-05			ENSG00000224586	ENSG00000224586	2880	2880	1.11.1.9		4557	protein-coding gene	gene with protein product		603435			NA	9639555	Standard		NM_001509	NA	Approved		uc003nll.2	O75715	OTTHUMG00000016307	ENST00000412168.2:c.132G>T	6.37:g.28497272G>T	ENSP00000392398:p.Glu44Asp	NA		37	CCDS4652.1	.	.	.	.	.	.	.	.	.	.	G	0.507	-0.868061	0.02590	.	.	ENSG00000224586	ENST00000412168;ENST00000469384	T;T	0.03982	3.74;3.74	3.65	-5.39	0.02664	Thioredoxin-like fold (2);	1.372440	0.04755	N	0.425323	T	0.01558	0.0050	M	0.65975	2.015	0.18873	N	0.999986	B;B	0.18863	0.031;0.0	B;B	0.17098	0.017;0.001	T	0.44205	-0.9343	10	0.40728	T	0.16	-0.7799	1.8104	0.03089	0.1694:0.1208:0.2565:0.4533	.	44;44	A1A4Y0;O75715	.;GPX5_HUMAN	D	44	ENSP00000392398:E44D;ENSP00000419935:E44D	ENSP00000392398:E44D	E	+	3	2	GPX5	28605251	0.148000	0.22702	0.001000	0.08648	0.292000	0.27327	-0.894000	0.04123	-1.342000	0.02222	-0.182000	0.12963	GAG	GPX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043672.2		+	ENST00000412168.2	Missense_Mutation	SNP	6 : 28497272 - 28497272 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	295	42
CAMTA1	23261	broad.mit.edu	37	1	7811265	7811265	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7811265C>T	ENST00000303635.7	+	20	4903	c.4696C>T	c.(4696-4698)Ctt>Ttt	p.L1566F	CAMTA1_ENST00000476864.1_Missense_Mutation_p.L130F|CAMTA1_ENST00000439411.2_Missense_Mutation_p.L1552F	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1566	IQ 1.				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)		GCAGTACGCACTTTATAAAAA	0.488		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													194	208	203			NA	NA	1		NA											NA				7811265		2203	4300	6503	SO:0001583	missense			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.4696C>T	1.37:g.7811265C>T	ENSP00000306522:p.Leu1566Phe	NA	A7MBM4|Q5VUE1|Q6V701|Q8WYI3	37	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789180	0.90367	.	.	ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646;ENST00000476864	T;T;T	0.72615	-0.67;-0.67;-0.67	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.77691	0.4168	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.999	T	0.70425	-0.4875	10	0.13853	T	0.58	-7.3596	19.7272	0.96168	0.0:1.0:0.0:0.0	.	609;529;1566	B4DXR3;Q7Z7P1;Q9Y6Y1	.;.;CMTA1_HUMAN	F	1566;1552;609;529;130	ENSP00000306522:L1566F;ENSP00000402561:L1552F;ENSP00000452319:L130F	ENSP00000306522:L1566F	L	+	1	0	CAMTA1	7733852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.646000	0.89796	0.655000	0.94253	CTT	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000003588.3		+	ENST00000303635.7	Missense_Mutation	SNP	1 : 7811265 - 7811265 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1688	311
PLEKHG1	57480	broad.mit.edu	37	6	151125824	151125824	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151125824G>A	ENST00000358517.2	+	7	1070	c.859G>A	c.(859-861)Gcc>Acc	p.A287T	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.A287T			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	287	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.A287T(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GCAGCGAGTCGCCTGGCATAT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	central_nervous_system(1)											83	76	78			NA	NA	6		NA											NA				151125824		2203	4300	6503	SO:0001583	missense			AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278	57480	57480		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	20884	protein-coding gene	gene with protein product					NA	10574462	Standard		XM_005267064	NA	Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.859G>A	6.37:g.151125824G>A	ENSP00000351318:p.Ala287Thr	NA	Q5T1F2	37	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	G	37	6.042648	0.97231	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.66638	-0.22;-0.22	6.17	6.17	0.99709	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.82674	0.5088	M	0.83852	2.665	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.82335	-0.0508	10	0.62326	D	0.03	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	94;287;287	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	T	287	ENSP00000356297:A287T;ENSP00000351318:A287T	ENSP00000351318:A287T	A	+	1	0	PLEKHG1	151167517	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	9.731000	0.98807	2.941000	0.99782	0.655000	0.94253	GCC	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042691.1		+	ENST00000358517.2	Missense_Mutation	SNP	6 : 151125824 - 151125824 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	353	77
CXXC1	30827	broad.mit.edu	37	18	47811382	47811382	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47811382T>A	ENST00000285106.6	-	7	1616	c.902A>T	c.(901-903)gAc>gTc	p.D301V	CXXC1_ENST00000412036.2_Missense_Mutation_p.D301V|CXXC1_ENST00000589940.1_Missense_Mutation_p.D301V	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	301	Asp/Glu-rich (acidic).				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CAGGCCATGGTCATCAAAGGC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	80	79			NA	NA	18		NA											NA				47811382		2203	4300	6503	SO:0001583	missense			BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832	30827	30827		Zinc fingers, PHD-type	24343	protein-coding gene	gene with protein product	CpG binding protein, DNA-binding protein with PHD finger and CXXC domain, zinc finger, CpG binding-type containing 1	609150	CXXC finger 1 (PHD domain)		NA	10799292, 10688657	Standard	NM_014593	NM_014593	NA	Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.902A>T	18.37:g.47811382T>A	ENSP00000285106:p.Asp301Val	NA	Q8N2W4|Q96BC8|Q9P2V7	37	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	T	15.66	2.900308	0.52227	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.27256	1.68;1.68	4.28	4.28	0.50868	.	0.249082	0.37715	N	0.001980	T	0.39462	0.1079	L	0.46157	1.445	0.80722	D	1	P;D;P;P	0.71674	0.808;0.998;0.808;0.808	B;D;B;B	0.63703	0.283;0.917;0.283;0.17	T	0.18650	-1.0330	10	0.56958	D	0.05	-8.5836	11.6576	0.51328	0.0:0.0:0.0:1.0	.	301;301;301;168	B2RC03;Q9P0U4-2;Q9P0U4;Q59EC8	.;.;CXXC1_HUMAN;.	V	301	ENSP00000285106:D301V;ENSP00000390475:D301V	ENSP00000285106:D301V	D	-	2	0	CXXC1	46065380	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	4.789000	0.62446	1.718000	0.51419	0.443000	0.29094	GAC	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255927.2		-	ENST00000285106.6	Missense_Mutation	SNP	18 : 47811382 - 47811382 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	421	86
LAMTOR3	8649	broad.mit.edu	37	4	100805266	100805266	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100805266C>T	ENST00000499666.2	-	6	446	c.254G>A	c.(253-255)cGt>cAt	p.R85H	LAMTOR3_ENST00000515100.1_5'UTR|LAMTOR3_ENST00000226522.8_Missense_Mutation_p.R78H	NM_001243736.1|NM_021970.3	NP_001230665.1|NP_068805.1	Q9UHA4	LTOR3_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 3	85					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	Ragulator complex	protein binding			endometrium(1)|large_intestine(1)|lung(1)	3						CAAAGGTAAACGATTAAATTG	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	61	59			NA	NA	4		NA											NA				100805266		2203	4299	6502	SO:0001583	missense			AF201947	CCDS3652.1, CCDS58920.1	4q24-q26	2012-02-28	2011-02-15	2011-02-15	ENSG00000109270	ENSG00000109270	8649	8649			15606	protein-coding gene	gene with protein product	MEK partner 1	603296	mitogen-activated protein kinase kinase 1 interacting protein 1, MAPK scaffold protein 1	MAP2K1IP1, MAPKSP1	NA	9733512, 15016825	Standard	NM_021970	NM_021970	NA	Approved	MP1, MAPBP, Ragulator3	uc003hvg.2	Q9UHA4	OTTHUMG00000131050	ENST00000499666.2:c.254G>A	4.37:g.100805266C>T	ENSP00000424183:p.Arg85His	NA	B2R4A1|Q9H364	37	CCDS3652.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340133	0.60963	.	.	ENSG00000109270	ENST00000499666;ENST00000226522	.	.	.	4.85	4.85	0.62838	.	0.054326	0.85682	D	0.000000	T	0.43299	0.1241	L	0.27053	0.805	0.80722	D	1	B;B	0.17465	0.011;0.022	B;B	0.09377	0.003;0.004	T	0.30966	-0.9960	9	0.40728	T	0.16	.	11.9349	0.52868	0.0:0.9203:0.0:0.0797	.	85;85	Q53FH6;Q9UHA4	.;LTOR3_HUMAN	H	85;78	.	ENSP00000226522:R78H	R	-	2	0	LAMTOR3	101024289	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.206000	0.65192	2.676000	0.91093	0.591000	0.81541	CGT	LAMTOR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253698.2		-	ENST00000499666.2	Missense_Mutation	SNP	4 : 100805266 - 100805266 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	271	62
ACACA	31	broad.mit.edu	37	17	35486405	35486405	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35486405G>A	ENST00000353139.5	-	47	6311	c.5830C>T	c.(5830-5832)Cac>Tac	p.H1944Y	ACACA_ENST00000335166.5_Missense_Mutation_p.H1829Y|ACACA_ENST00000394406.2_Missense_Mutation_p.H1907Y|ACACA_ENST00000361253.5_Missense_Mutation_p.H33Y|ACACA_ENST00000360679.3_Missense_Mutation_p.H1849Y	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1907	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ACTGAACTGTGCACGCTCTAA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)							NA				0													103	93	97			NA	NA	17		NA											NA				35486405		2203	4300	6503	SO:0001583	missense			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	31	31	6.4.1.2		84	protein-coding gene	gene with protein product	acetyl-CoA carboxylase 1	200350	acetyl-Coenzyme A carboxylase alpha	ACAC, ACC	NA		Standard	NM_198836	NM_198837	NA	Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000353139.5:c.5830C>T	17.37:g.35486405G>A	ENSP00000344789:p.His1944Tyr	NA	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	37	CCDS42302.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.345306	0.24426	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	D;D;D;D;D	0.97553	-4.43;-4.43;-4.43;-4.43;-4.43	5.24	0.302	0.15786	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.757705	0.13474	N	0.385185	D	0.89181	0.6642	N	0.04959	-0.14	0.09310	N	0.999999	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.0	T	0.81709	-0.0809	10	0.51188	T	0.08	1.3312	4.0255	0.09685	0.5187:0.0:0.3028:0.1785	.	606;1944;1907;1849	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	Y	1944;1849;1907;1931;1829;606;33	ENSP00000344789:H1944Y;ENSP00000353898:H1849Y;ENSP00000377928:H1907Y;ENSP00000335323:H1829Y;ENSP00000354565:H33Y	ENSP00000335323:H1829Y	H	-	1	0	ACACA	32560518	0.155000	0.22806	0.295000	0.24960	0.978000	0.69477	0.739000	0.26173	0.118000	0.18165	0.591000	0.81541	CAC	ACACA-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256689.1		-	ENST00000353139.5	Missense_Mutation	SNP	17 : 35486405 - 35486405 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	27
PSMD1	5707	broad.mit.edu	37	2	232011056	232011056	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232011056A>C	ENST00000308696.6	+	18	2263	c.2101A>C	c.(2101-2103)Atc>Ctc	p.I701L	PSMD1_ENST00000409643.1_Missense_Mutation_p.I701L|PSMD1_ENST00000373635.4_Missense_Mutation_p.I701L	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	701					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GCAGACTGAAATCACTTGTCC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	95	98			NA	NA	2		NA											NA				232011056		2203	4300	6503	SO:0001583	missense			D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692	5707	5707		Proteasome (prosome, macropain) subunits	9554	protein-coding gene	gene with protein product					NA	8816993	Standard		NM_002807	NA	Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.2101A>C	2.37:g.232011056A>C	ENSP00000309474:p.Ile701Leu	NA	B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	37	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	A	15.85	2.955218	0.53293	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643	T;T;T	0.30714	1.52;1.52;1.52	5.16	5.16	0.70880	Armadillo-like helical (1);Armadillo-type fold (1);	0.054170	0.85682	D	0.000000	T	0.18257	0.0438	N	0.08118	0	0.52501	D	0.999955	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.04053	-1.0981	10	0.48119	T	0.1	-12.4273	14.2797	0.66202	1.0:0.0:0.0:0.0	.	701;701	Q99460;Q99460-2	PSMD1_HUMAN;.	L	701	ENSP00000309474:I701L;ENSP00000362738:I701L;ENSP00000386932:I701L	ENSP00000309474:I701L	I	+	1	0	PSMD1	231719300	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.706000	0.54830	2.073000	0.62155	0.454000	0.30748	ATC	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256958.2		+	ENST00000308696.6	Missense_Mutation	SNP	2 : 232011056 - 232011056 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	672	159
GIT1	28964	broad.mit.edu	37	17	27909775	27909775	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27909775A>C	ENST00000225394.3	-	4	594	c.346T>G	c.(346-348)Ttt>Gtt	p.F116V	GIT1_ENST00000581348.1_Missense_Mutation_p.F116V|GIT1_ENST00000394869.3_Missense_Mutation_p.F116V|GIT1_ENST00000579937.1_Missense_Mutation_p.F116V|RP11-68I3.2_ENST00000581474.1_RNA	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	116	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		TTGTGCACAAATGCCAGCATC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(81;41 1719 20078 35068)							NA				0													92	81	85			NA	NA	17		NA											NA				27909775		2203	4300	6503	SO:0001583	missense			AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262	28964	28964		ADP-ribosylation factor GTPase activating proteins, Ankyrin repeat domain containing	4272	protein-coding gene	gene with protein product		608434	G protein-coupled receptor kinase interactor 1		NA	9826657, 10896954	Standard	NM_014030	NM_014030	NA	Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.346T>G	17.37:g.27909775A>C	ENSP00000225394:p.Phe116Val	NA	B4DSV3|Q86SS0|Q9BRJ4	37	CCDS11250.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.750783	0.89753	.	.	ENSG00000108262	ENST00000225394;ENST00000394869;ENST00000335356	T;T	0.50813	0.73;0.73	4.48	4.48	0.54585	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.77089	0.4079	H	0.96333	3.805	0.80722	D	1	D;D;D;D	0.69078	0.971;0.996;0.997;0.997	D;D;D;D	0.80764	0.951;0.991;0.994;0.981	D	0.84535	0.0635	10	0.87932	D	0	.	13.1832	0.59666	1.0:0.0:0.0:0.0	.	120;116;116;116	Q59FC3;Q9Y2X7-3;B4DGU9;Q9Y2X7	.;.;.;GIT1_HUMAN	V	116	ENSP00000225394:F116V;ENSP00000378338:F116V	ENSP00000225394:F116V	F	-	1	0	GIT1	24933901	1.000000	0.71417	0.908000	0.35775	0.983000	0.72400	9.087000	0.94110	2.022000	0.59522	0.454000	0.30748	TTT	GIT1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256073.1		-	ENST00000225394.3	Missense_Mutation	SNP	17 : 27909775 - 27909775 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	301	69
GATA2	2624	broad.mit.edu	37	3	128204709	128204709	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128204709G>A	ENST00000341105.2	-	3	1063	c.732C>T	c.(730-732)caC>caT	p.H244H	GATA2_ENST00000430265.2_Silent_p.H244H|GATA2_ENST00000487848.1_Silent_p.H244H	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	244					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		TGGGGATGGGGTGGTGTGTAG	0.642		NA	Mis		AML(CML blast transformation)									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		3	3q21.3	2624	GATA binding protein 2		L	0													113	107	109			NA	NA	3		NA											NA				128204709		2203	4300	6503	SO:0001819	synonymous_variant			AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348	2624	2624		GATA zinc finger domain containing	4171	protein-coding gene	gene with protein product		137295	GATA-binding protein 2		NA	1714909	Standard	NM_032638	NM_032638	NA	Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.732C>T	3.37:g.128204709G>A		NA	D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	37	CCDS3049.1																																																																																			GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356925.1		-	ENST00000341105.2	Silent	SNP	3 : 128204709 - 128204709 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	280	19
TRAF2	7186	broad.mit.edu	37	9	139802654	139802654	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139802654C>T	ENST00000247668.2	+	5	551	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W	TRAF2_ENST00000482854.1_3'UTR|TRAF2_ENST00000359662.3_Missense_Mutation_p.R219W|TRAF2_ENST00000536468.1_Missense_Mutation_p.R167W	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	167					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		CCGGCATTGCCGGGCACCCTG	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	20	19			NA	NA	9		NA											NA				139802654		2203	4297	6500	SO:0001583	missense			U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191	7186	7186		RING-type (C3HC4) zinc fingers	12032	protein-coding gene	gene with protein product		601895			NA	7639698	Standard	NM_021138	NM_021138	NA	Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.499C>T	9.37:g.139802654C>T	ENSP00000247668:p.Arg167Trp	NA	A8K107|B4DPJ7|Q7Z337|Q96NT2	37	CCDS7013.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.322261	0.60634	.	.	ENSG00000127191	ENST00000419057;ENST00000536468;ENST00000429509;ENST00000432785;ENST00000247668;ENST00000359662;ENST00000371645	T;T;T;T;T	0.56275	0.47;1.49;1.48;1.49;1.23	4.01	-1.67	0.08238	Zinc finger, TRAF-type (1);	0.183072	0.45361	D	0.000375	T	0.59224	0.2178	L	0.53249	1.67	0.31336	N	0.684212	D;D;D;P	0.71674	0.985;0.985;0.998;0.952	D;D;D;P	0.66716	0.914;0.914;0.946;0.654	T	0.62666	-0.6806	10	0.87932	D	0	-16.9972	8.6683	0.34134	0.6951:0.1942:0.1108:0.0	.	156;167;219;167	Q12933-3;Q12933-4;Q12933-2;Q12933	.;.;.;TRAF2_HUMAN	W	167;167;167;191;167;219;219	ENSP00000405860:R167W;ENSP00000446414:R167W;ENSP00000406524:R167W;ENSP00000247668:R167W;ENSP00000352685:R219W	ENSP00000247668:R167W	R	+	1	2	TRAF2	138922475	0.983000	0.35010	0.180000	0.23079	0.754000	0.42855	0.787000	0.26858	-0.311000	0.08754	0.561000	0.74099	CGG	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055166.1		+	ENST00000247668.2	Missense_Mutation	SNP	9 : 139802654 - 139802654 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	117	19
RCOR3	55758	broad.mit.edu	37	1	211449613	211449613	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:211449613G>A	ENST00000367005.4	+	4	336	c.195G>A	c.(193-195)ttG>ttA	p.L65L	RCOR3_ENST00000419091.2_Silent_p.L123L|RCOR3_ENST00000452621.2_Silent_p.L123L|RCOR3_ENST00000367006.4_Silent_p.L123L	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	65	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		TTGGCATGTTGTTCTGGCATA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													221	220	220			NA	NA	1		NA											NA				211449613		2203	4300	6503	SO:0001819	synonymous_variant			AK001738	CCDS31016.1, CCDS44312.1, CCDS44313.1, CCDS44314.1	1q32.3	2008-02-05			ENSG00000117625	ENSG00000117625	55758	55758			25594	protein-coding gene	gene with protein product					NA	10718198	Standard	NM_018254	NM_018254	NA	Approved	FLJ10876	uc010psw.2	Q9P2K3	OTTHUMG00000036996	ENST00000367005.4:c.195G>A	1.37:g.211449613G>A		NA	B3KYA2|B4DYY7|Q5VT47|Q7L9I5|Q8N5U3|Q9NV83	37	CCDS31016.1																																																																																			RCOR3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089821.1		+	ENST00000367005.4	Silent	SNP	1 : 211449613 - 211449613 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1212	298
KIAA0196	9897	broad.mit.edu	37	8	126051140	126051140	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:126051140C>A	ENST00000318410.7	-	25	3365	c.3016G>T	c.(3016-3018)Gat>Tat	p.D1006Y	KIAA0196_ENST00000517845.1_Missense_Mutation_p.D858Y	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	1006					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AGTGTGTTATCTTCTTTGGGG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	148	147			NA	NA	8		NA											NA				126051140		2203	4300	6503	SO:0001583	missense				CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961	9897	9897			28984	protein-coding gene	gene with protein product	strumpellin	610657	spastic paraplegia 8 (autosomal dominant)	SPG8	NA	9973294, 17160902, 23085491	Standard	NM_014846	NM_014846	NA	Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.3016G>T	8.37:g.126051140C>A	ENSP00000318016:p.Asp1006Tyr	NA	A8K4R7|Q3KQX5|Q8TBQ2	37	CCDS6355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.837395|4.837395	0.91117|0.91117	.|.	.|.	ENSG00000164961|ENSG00000164961	ENST00000318410;ENST00000517845|ENST00000523273	D;D|.	0.86497|.	-2.13;-2.13|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.180662|.	0.64402|.	D|.	0.000020|.	T|T	0.77212|0.77212	0.4097|0.4097	M|M	0.73217|0.73217	2.22|2.22	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.975|.	D;P|.	0.71414|.	0.973;0.88|.	T|T	0.74481|0.74481	-0.3651|-0.3651	10|5	0.72032|.	D|.	0.01|.	-17.7857|-17.7857	20.3207|20.3207	0.98668|0.98668	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	858;1006|.	E7EQI7;Q12768|.	.;STRUM_HUMAN|.	Y|N	1006;858|622	ENSP00000318016:D1006Y;ENSP00000429676:D858Y|.	ENSP00000318016:D1006Y|.	D|K	-|-	1|3	0|2	KIAA0196|KIAA0196	126120322|126120322	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.814000|7.814000	0.86154|0.86154	2.813000|2.813000	0.96785|0.96785	0.561000|0.561000	0.74099|0.74099	GAT|AAG	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381369.1		-	ENST00000318410.7	Missense_Mutation	SNP	8 : 126051140 - 126051140 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	886	38
HEATR3	55027	broad.mit.edu	37	16	50104168	50104168	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50104168C>T	ENST00000299192.7	+	4	670	c.479C>T	c.(478-480)gCc>gTc	p.A160V	HEATR3_ENST00000285767.4_Missense_Mutation_p.A74V	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	160							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GAGAACATAGCCAATGAGACT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	97	100			NA	NA	16		NA											NA				50104168		2198	4300	6498	SO:0001583	missense			BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393	55027	55027			26087	protein-coding gene	gene with protein product		614951			NA	12477932	Standard	NM_182922	XM_005256013	NA	Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.479C>T	16.37:g.50104168C>T	ENSP00000299192:p.Ala160Val	NA	A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	37	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483595	0.84854	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.63913	-0.07;-0.07	5.73	5.73	0.89815	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73305	0.3570	L	0.55481	1.735	0.80722	D	1	P;D	0.89917	0.885;1.0	P;D	0.83275	0.465;0.996	T	0.64441	-0.6407	10	0.06757	T	0.87	.	19.248	0.93909	0.0:1.0:0.0:0.0	.	74;160	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	V	74;160	ENSP00000285767:A74V;ENSP00000299192:A160V	ENSP00000285767:A74V	A	+	2	0	HEATR3	48661669	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.510000	0.73729	2.861000	0.98227	0.655000	0.94253	GCC	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256880.2		+	ENST00000299192.7	Missense_Mutation	SNP	16 : 50104168 - 50104168 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	325	49
PVRL1	5818	broad.mit.edu	37	11	119535972	119535972	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119535972G>A	ENST00000264025.3	-	6	1569	c.1039C>T	c.(1039-1041)Cgg>Tgg	p.R347W	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	347					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCGGCGCGCCGCCCATGTTCG	0.672		NA											-	1	5e-04	0.002	NA	2184	NA	0.9997	,	,	NA	4e-04	NA	NA	NA	6e-04	0.7534	EXOME	NA	NA	8e-04	SNP								NA				0													21	25	24			NA	NA	11		NA											NA				119535972		2199	4288	6487	SO:0001583	missense			X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400	5818	5818		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	9706	protein-coding gene	gene with protein product	nectin	600644		HVEC, ED4	NA	7721102, 9616127	Standard		NM_203285	NA	Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1039C>T	11.37:g.119535972G>A	ENSP00000264025:p.Arg347Trp	NA	O75465|Q2M3D3|Q9HBE6|Q9HBW2	37	CCDS8426.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	-	14.99	2.700809	0.48307	.	.	ENSG00000110400	ENST00000264025	T	0.76186	-1.0	4.32	3.32	0.38043	.	0.288701	0.29822	N	0.011103	T	0.57330	0.2046	L	0.34521	1.04	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.60177	-0.7314	10	0.66056	D	0.02	.	2.4483	0.04511	0.1109:0.1906:0.5019:0.1966	.	347	Q15223	PVRL1_HUMAN	W	347	ENSP00000264025:R347W	ENSP00000264025:R347W	R	-	1	2	PVRL1	119041182	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.455000	0.44988	2.108000	0.64289	0.479000	0.44913	CGG	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388231.1		-	ENST00000264025.3	Missense_Mutation	SNP	11 : 119535972 - 119535972 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	268	51
FHL2	2274	broad.mit.edu	37	2	105977891	105977891	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:105977891C>T	ENST00000409177.1	-	6	1158	c.1037G>A	c.(1036-1038)gGa>gAa	p.G346E	FHL2_ENST00000408995.1_Splice_Site_p.G230E|FHL2_ENST00000358129.4_Splice_Site_p.G230E|FHL2_ENST00000409807.1_Splice_Site_p.G230E|FHL2_ENST00000393352.3_Splice_Site_p.G230E|FHL2_ENST00000393353.3_Splice_Site_p.G230E|FHL2_ENST00000322142.8_Splice_Site_p.G230E|FHL2_ENST00000336660.5_3'UTR|FHL2_ENST00000344213.4_Splice_Site_p.G340E			Q14192	FHL2_HUMAN	four and a half LIM domains 2	230					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						GCCACCAAGTCCTGTTAACAG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	75	79			NA	NA	2		NA											NA				105977891		2203	4300	6503	SO:0001630	splice_region_variant				CCDS2070.1	2q12.2	2014-09-17			ENSG00000115641	ENSG00000115641	2274	2274			3703	protein-coding gene	gene with protein product		602633			NA	8753811	Standard		NM_201557	NA	Approved	SLIM3, DRAL	uc002tcy.3	Q14192	OTTHUMG00000153120	ENST00000409177.1:c.1037-1G>A	2.37:g.105977891C>T		NA	Q13229|Q13644|Q9P294	37		.	.	.	.	.	.	.	.	.	.	C	33	5.238043	0.95240	.	.	ENSG00000115641	ENST00000409177;ENST00000344213;ENST00000393353;ENST00000393352;ENST00000322142;ENST00000358129;ENST00000409807;ENST00000408995	T;T;T;T;T;T;T;T	0.61158	0.2;0.13;0.2;0.2;0.2;0.2;0.2;0.2	5.33	5.33	0.75918	Zinc finger, LIM-type (5);	0.052402	0.85682	D	0.000000	T	0.74313	0.3700	L	0.60067	1.865	0.80722	D	1	P;P;D;P	0.76494	0.698;0.92;0.999;0.698	P;P;D;P	0.81914	0.58;0.742;0.995;0.58	T	0.76195	-0.3048	10	0.87932	D	0	.	19.3931	0.94592	0.0:1.0:0.0:0.0	.	230;230;340;230	Q6I9R8;Q2I5I4;Q2XQU9;Q14192	.;.;.;FHL2_HUMAN	E	230;340;230;230;230;230;230;230	ENSP00000386892:G230E;ENSP00000344266:G340E;ENSP00000377021:G230E;ENSP00000377020:G230E;ENSP00000322909:G230E;ENSP00000350846:G230E;ENSP00000386665:G230E;ENSP00000386633:G230E	ENSP00000322909:G230E	G	-	2	0	FHL2	105344323	1.000000	0.71417	0.949000	0.38748	0.976000	0.68499	5.914000	0.69964	2.634000	0.89283	0.650000	0.86243	GGA	FHL2-006	PUTATIVE	alternative_5_UTR|downstream_ATG|basic	protein_coding	NA	protein_coding	OTTHUMT00000329659.2	Missense_Mutation	-	ENST00000409177.1	Splice_Site	SNP	2 : 105977891 - 105977891 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	410	61
DPP3	10072	broad.mit.edu	37	11	66255388	66255388	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66255388C>A	ENST00000532677.1	+	6	1035	c.634C>A	c.(634-636)Ctc>Atc	p.L212I	DPP3_ENST00000453114.1_Missense_Mutation_p.L193I|DPP3_ENST00000531863.1_Missense_Mutation_p.L213I|DPP3_ENST00000360510.2_Missense_Mutation_p.L193I|DPP3_ENST00000541961.1_Missense_Mutation_p.L193I|DPP3_ENST00000530165.1_Missense_Mutation_p.L163I	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	193					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTTCTAGAACCTCAGTGCCTA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	76	77			NA	NA	11		NA											NA				66255388		2200	4295	6495	SO:0001583	missense			AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	10072	10072	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	dipeptidylpeptidase III, dipeptidylpeptidase 3		NA	10773679	Standard		NM_005700	NA	Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000532677.1:c.634C>A	11.37:g.66255388C>A	ENSP00000435284:p.Leu212Ile	NA	B2RDB5|O95748|Q969H2|Q9BV67|Q9HAL6	37		.	.	.	.	.	.	.	.	.	.	C	6.672	0.492621	0.12702	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000532019;ENST00000526515;ENST00000530165;ENST00000533725;ENST00000543807;ENST00000531354	T;T;T;T;T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18	4.0	2.09	0.27110	.	0.123537	0.56097	D	0.000032	T	0.08447	0.0210	N	0.05554	-0.025	0.34439	D	0.699378	B;B	0.02656	0.0;0.0	B;B	0.12156	0.005;0.007	T	0.26985	-1.0087	10	0.13108	T	0.6	.	7.1169	0.25421	0.1692:0.7354:0.0:0.0954	.	212;193	G3V1D3;Q9NY33	.;DPP3_HUMAN	I	213;212;193;193;193;91;163;163;91;91;193	ENSP00000432782:L213I;ENSP00000435284:L212I;ENSP00000353701:L193I;ENSP00000389943:L193I;ENSP00000440502:L193I;ENSP00000437101:L91I;ENSP00000431606:L163I;ENSP00000436941:L163I;ENSP00000434518:L91I;ENSP00000432618:L193I	ENSP00000353701:L193I	L	+	1	0	DPP3	66011964	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	1.600000	0.36762	0.625000	0.30304	0.563000	0.77884	CTC	DPP3-001	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000393423.1		+	ENST00000532677.1	Missense_Mutation	SNP	11 : 66255388 - 66255388 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	244	50
KRT17	3872	broad.mit.edu	37	17	39777943	39777943	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39777943C>A	ENST00000311208.8	-	4	803	c.736G>T	c.(736-738)Ggc>Tgc	p.G246C	JUP_ENST00000540235.1_Missense_Mutation_p.G405C	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	246	Linker 12.|Rod.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				AGGTCCACGCCTGGGGCAGCG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(92;1242 2086 39193 50508)							NA				0													126	102	110			NA	NA	17		NA											NA				39777943		2203	4300	6503	SO:0001583	missense			X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422	3872	3872		-, Intermediate filaments type I, keratins (acidic)	6427	protein-coding gene	gene with protein product		148069		PCHC1	NA	7539673, 1281771, 16831889	Standard	NM_000422	NM_000422	NA	Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.736G>T	17.37:g.39777943C>A	ENSP00000308452:p.Gly246Cys	NA	A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	37	CCDS11402.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.425396	0.43020	.	.	ENSG00000128422;ENSG00000173801	ENST00000311208;ENST00000540235	T;T	0.77358	-1.09;-1.09	3.97	3.97	0.46021	Prefoldin (1);Filament (1);	0.000000	0.48286	D	0.000199	D	0.91556	0.7333	H	0.96547	3.84	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	D	0.85779	0.1360	10	0.87932	D	0	.	16.6211	0.84930	0.0:1.0:0.0:0.0	.	246	Q04695	K1C17_HUMAN	C	246;405	ENSP00000308452:G246C;ENSP00000441751:G405C	ENSP00000441751:G405C	G	-	1	0	JUP;KRT17	37031469	0.014000	0.17966	0.702000	0.30337	0.417000	0.31264	1.905000	0.39878	2.214000	0.71695	0.655000	0.94253	GGC	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257460.1		-	ENST00000311208.8	Missense_Mutation	SNP	17 : 39777943 - 39777943 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	613	25
CDKL4	344387	broad.mit.edu	37	2	39452999	39452999	+	Missense_Mutation	SNP	G	G	T	rs61744520	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39452999G>T	ENST00000378803.1	-	2	270	c.271C>A	c.(271-273)Ctg>Atg	p.L91M	CDKL4_ENST00000395035.3_Missense_Mutation_p.L91M	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	91	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TTTCTTTCCAGCTCATTTAAA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	73	73			NA	NA	2		NA											NA				39452999		2202	4299	6501	SO:0001583	missense				CCDS33184.1	2p22.3	2011-11-04			ENSG00000205111	ENSG00000205111	344387	344387		Cyclin-dependent kinases	19287	protein-coding gene	gene with protein product					NA		Standard	XM_293029	NM_001009565	NA	Approved		uc002rrm.3	Q5MAI5	OTTHUMG00000133574	ENST00000378803.1:c.271C>A	2.37:g.39452999G>T	ENSP00000368080:p.Leu91Met	NA		37	CCDS33184.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543965	0.65198	.	.	ENSG00000205111	ENST00000378803;ENST00000395035	T;T	0.51817	0.69;0.69	5.9	5.02	0.67125	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.43110	D	0.000603	T	0.55737	0.1939	L	0.45285	1.41	0.54753	D	0.999984	D;P	0.71674	0.998;0.93	D;D	0.75020	0.985;0.97	T	0.50709	-0.8796	10	0.11182	T	0.66	-12.4399	12.7028	0.57043	0.0789:0.0:0.9211:0.0	.	91;91	Q2NME9;Q5MAI5	.;CDKL4_HUMAN	M	91	ENSP00000368080:L91M;ENSP00000378476:L91M	ENSP00000368080:L91M	L	-	1	2	CDKL4	39306503	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	6.081000	0.71309	1.502000	0.48669	0.650000	0.86243	CTG	CDKL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257676.1		-	ENST00000378803.1	Missense_Mutation	SNP	2 : 39452999 - 39452999 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	147	28
CPT1A	1374	broad.mit.edu	37	11	68527694	68527694	+	Splice_Site	SNP	G	G	A	rs139057953		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68527694G>A	ENST00000265641.5	-	17	2295	c.2141C>T	c.(2140-2142)cCg>cTg	p.P714L	CPT1A_ENST00000376618.2_Splice_Site_p.P714L|CPT1A_ENST00000539743.1_Splice_Site_p.P714L|CPT1A_ENST00000540367.1_Splice_Site_p.P714L	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	714					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	CGCACTCACCGGTCCAAAGCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	LEU/PRO,LEU/PRO	1,4399	2.1+/-5.4	0,1,2199	44	38	40		2141,2141	3.8	0.9	11	dbSNP_134	40	0,8588		0,0,4294	no	missense-near-splice,missense-near-splice	CPT1A	NM_001031847.2,NM_001876.3	98,98	0,1,6493	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging	714/757,714/774	68527694	1,12987	2200	4294	6494	SO:0001630	splice_region_variant			L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	1374	1374	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1	NA	7892212, 9070950	Standard	NM_001876	NM_001876	NA	Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.2142+1C>T	11.37:g.68527694G>A		NA	Q8TCU0|Q9BWK0	37	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186551	0.78789	2.27E-4	0.0	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93	4.78	3.83	0.44106	.	0.111392	0.64402	D	0.000006	D	0.96911	0.8991	M	0.93241	3.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.993	D	0.97974	1.0345	10	0.87932	D	0	.	15.0248	0.71659	0.0:0.143:0.857:0.0	.	714;714	P50416;P50416-2	CPT1A_HUMAN;.	L	714	ENSP00000439084:P714L;ENSP00000365803:P714L;ENSP00000265641:P714L;ENSP00000446108:P714L	ENSP00000265641:P714L	P	-	2	0	CPT1A	68284270	1.000000	0.71417	0.936000	0.37596	0.679000	0.39708	9.208000	0.95075	1.309000	0.44985	0.650000	0.86243	CCG	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397457.2	Missense_Mutation	-	ENST00000265641.5	Splice_Site	SNP	11 : 68527694 - 68527694 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	89	19
LRRC42	115353	broad.mit.edu	37	1	54426034	54426034	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54426034C>T	ENST00000371370.3	+	5	1132	c.611C>T	c.(610-612)aCt>aTt	p.T204I	LRRC42_ENST00000319223.4_Missense_Mutation_p.T204I	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	204										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						CCTAGTGTAACTCAGCTCCAC	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	122	122			NA	NA	1		NA											NA				54426034		2203	4300	6503	SO:0001583	missense			AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212	115353	115353			28792	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_052940	NM_001256409	NA	Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.611C>T	1.37:g.54426034C>T	ENSP00000360421:p.Thr204Ile	NA	D3DQ46|Q8N2Q8	37	CCDS585.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560599	0.45590	.	.	ENSG00000116212	ENST00000371370;ENST00000319223;ENST00000444987	T;T;T	0.31769	5.4;5.4;1.48	5.85	5.85	0.93711	.	0.172887	0.50627	D	0.000106	T	0.18467	0.0443	N	0.19112	0.55	0.35667	D	0.813013	P;P	0.42296	0.775;0.666	B;B	0.35655	0.207;0.102	T	0.15752	-1.0426	10	0.59425	D	0.04	-17.1487	10.0635	0.42288	0.1474:0.7809:0.0:0.0717	.	204;204	E7EP35;Q9Y546	.;LRC42_HUMAN	I	204	ENSP00000360421:T204I;ENSP00000318185:T204I;ENSP00000389368:T204I	ENSP00000318185:T204I	T	+	2	0	LRRC42	54198622	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.393000	0.44442	2.941000	0.99782	0.655000	0.94253	ACT	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000023250.1		+	ENST00000371370.3	Missense_Mutation	SNP	1 : 54426034 - 54426034 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	464	20
PSD4	23550	broad.mit.edu	37	2	113940351	113940351	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113940351C>A	ENST00000441564.3	+	2	487	c.318C>A	c.(316-318)ccC>ccA	p.P106P	PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000245796.6_Silent_p.P106P			Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	NA					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATGCTCCTCCCTGGGGCTCCG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	47	46			NA	NA	2		NA											NA				113940351		2203	4300	6503	SO:0001819	synonymous_variant			U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637	23550	23550		Pleckstrin homology (PH) domain containing	19096	protein-coding gene	gene with protein product		614442			NA	12082148	Standard	NM_012455	XM_005263634	NA	Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000441564.3:c.318C>A	2.37:g.113940351C>A		NA	A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	37																																																																																				PSD4-003	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000330791.3		+	ENST00000441564.3	Silent	SNP	2 : 113940351 - 113940351 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	333	104
ZNF165	7718	broad.mit.edu	37	6	28053579	28053579	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28053579C>A	ENST00000377325.1	+	2	877	c.321C>A	c.(319-321)gcC>gcA	p.A107A		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	107	SCAN box.				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATTTGCAGGCCTGGGTACATG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	62	62			NA	NA	6		NA											NA				28053579		2203	4300	6503	SO:0001819	synonymous_variant			U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279	7718	7718		-, Zinc fingers, C2H2-type	12953	protein-coding gene	gene with protein product	cancer/testis antigen 53	600834			NA	7490084	Standard	NM_003447	NM_003447	NA	Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.321C>A	6.37:g.28053579C>A		NA		37	CCDS4643.1																																																																																			ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040173.1		+	ENST00000377325.1	Silent	SNP	6 : 28053579 - 28053579 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	56
GRN	2896	broad.mit.edu	37	17	42429451	42429451	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42429451T>C	ENST00000589265.1	+	7	814	c.777T>C	c.(775-777)tgT>tgC	p.C259C	GRN_ENST00000053867.3_Silent_p.C416C			P28799	GRN_HUMAN	granulin	416					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AGGGGCAGTGTCAGCGAGGAA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	62	62			NA	NA	17		NA											NA				42429451		2203	4300	6503	SO:0001819	synonymous_variant			M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582	2896	2896			4601	protein-coding gene	gene with protein product	progranulin	138945			NA	1417868, 9826678	Standard	NM_002087	XM_005257253	NA	Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000589265.1:c.777T>C	17.37:g.42429451T>C		NA	D3DX55|P23781|P23782|P23783|P23784|Q53Y88|Q540U8|Q9BWE7|Q9UCH0	37																																																																																				GRN-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000457775.1		+	ENST00000589265.1	Silent	SNP	17 : 42429451 - 42429451 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	459	82
LMTK3	114783	broad.mit.edu	37	19	49001742	49001742	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49001742G>T	ENST00000600059.1	-	11	2811	c.2584C>A	c.(2584-2586)Ctg>Atg	p.L862M	LMTK3_ENST00000270238.3_Missense_Mutation_p.L891M					lemur tyrosine kinase 3	NA										breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GACATCAGCAGCTGTTCCGTG	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	12	11			NA	NA	19		NA											NA				49001742		1909	4130	6039	SO:0001583	missense			AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235	114783	114783			19295	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 101				NA		Standard	NM_052895	NM_001080434	NA	Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.2584C>A	19.37:g.49001742G>T	ENSP00000472020:p.Leu862Met	NA		37		.	.	.	.	.	.	.	.	.	.	G	7.959	0.746601	0.15710	.	.	ENSG00000142235	ENST00000270238	D	0.86366	-2.11	3.37	1.09	0.20402	.	0.407546	0.17495	N	0.172205	D	0.84120	0.5402	N	0.14661	0.345	0.24288	N	0.995175	D	0.76494	0.999	D	0.66716	0.946	T	0.74147	-0.3759	10	0.52906	T	0.07	.	7.5999	0.28069	0.2278:0.0:0.7722:0.0	.	862	Q96Q04	LMTK3_HUMAN	M	891	ENSP00000270238:L891M	ENSP00000270238:L891M	L	-	1	2	LMTK3	53693554	0.172000	0.23043	0.992000	0.48379	0.408000	0.30992	0.810000	0.27183	0.253000	0.21552	0.449000	0.29647	CTG	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000466137.1		-	ENST00000600059.1	Missense_Mutation	SNP	19 : 49001742 - 49001742 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	59	10
UTP14A	10813	broad.mit.edu	37	X	129045772	129045772	+	Missense_Mutation	SNP	G	G	A	rs150155910		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129045772G>A	ENST00000394422.3	+	6	440	c.412G>A	c.(412-414)Gca>Aca	p.A138T	UTP14A_ENST00000425117.2_Intron|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_Missense_Mutation_p.A84T	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	138					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						CAATAAAACCGCACAAGTCCT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								T	,THR/ALA	0,3835		0,0,1632,571	133	125	127		,412	2.9	0.5	X	dbSNP_134	127	1,6727		0,1,2427,1872	no	intron,missense	UTP14A	NM_001166221.1,NM_006649.3	,58	0,1,4059,2443	AA,AG,GG,G	NA	0.0149,0.0,0.0095	,benign	,138/772	129045772	1,10562	2203	4300	6503	SO:0001583	missense			AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697	10813	10813			10665	protein-coding gene	gene with protein product		300508	serologically defined colon cancer antigen 16	SDCCAG16	NA	9610721, 16354793	Standard	NM_006649	NM_006649	NA	Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.412G>A	X.37:g.129045772G>A	ENSP00000377944:p.Ala138Thr	NA	A8K7A3|A8MVQ1|Q5JYF1	37	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304624	0.23736	0.0	1.49E-4	ENSG00000156697	ENST00000394422;ENST00000371051	T;T	0.16743	2.32;2.32	5.43	2.94	0.34122	.	0.228441	0.45361	N	0.000376	T	0.07908	0.0198	N	0.05230	-0.09	0.80722	D	1	B;B	0.14012	0.009;0.004	B;B	0.11329	0.006;0.006	T	0.22765	-1.0207	10	0.46703	T	0.11	-1.01	7.5144	0.27592	0.1322:0.0:0.2762:0.5917	.	84;138	F8WD00;Q9BVJ6	.;UT14A_HUMAN	T	138;84	ENSP00000377944:A138T;ENSP00000360090:A84T	ENSP00000360090:A84T	A	+	1	0	UTP14A	128873453	0.735000	0.28153	0.456000	0.27044	0.158000	0.22134	0.575000	0.23729	0.202000	0.20498	-0.825000	0.03093	GCA	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058221.1		+	ENST00000394422.3	Missense_Mutation	SNP	X : 129045772 - 129045772 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	653	190
TG	7038	broad.mit.edu	37	8	133980078	133980078	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133980078T>C	ENST00000220616.4	+	31	5766	c.5726T>C	c.(5725-5727)aTa>aCa	p.I1909T	TG_ENST00000377869.1_Missense_Mutation_p.I1852T|TG_ENST00000542445.1_Missense_Mutation_p.I279T|TG_ENST00000519543.1_Missense_Mutation_p.I63T	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1909					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTCGCAGAGATAACAGAGAGT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	67	73			NA	NA	8		NA											NA				133980078		2203	4300	6503	SO:0001583	missense			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832	7038	7038			11764	protein-coding gene	gene with protein product		188450			NA		Standard	NM_003235	NM_003235	NA	Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.5726T>C	8.37:g.133980078T>C	ENSP00000220616:p.Ile1909Thr	NA	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	37	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.346|8.346	0.829904|0.829904	0.16749|0.16749	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543|ENST00000518058	T;T;T;T|.	0.70749|.	-0.29;-0.3;-0.5;-0.51|.	5.77|5.77	4.55|4.55	0.56014|0.56014	.|.	0.806159|.	0.11516|.	N|.	0.556198|.	T|.	0.56001|.	0.1956|.	M|M	0.70595|0.70595	2.14|2.14	0.09310|0.09310	N|N	1|1	B;P;P|.	0.37276|.	0.363;0.589;0.514|.	B;B;B|.	0.33392|.	0.039;0.163;0.122|.	T|.	0.50250|.	-0.8850|.	10|.	0.87932|.	D|.	0|.	.|.	10.3|10.3	0.43646|0.43646	0.0:0.0:0.1644:0.8356|0.0:0.0:0.1644:0.8356	.|.	63;279;1909|.	E7EVM0;F5GWW5;P01266|.	.;.;THYG_HUMAN|.	T|Q	1852;715;1909;279;63|41	ENSP00000367100:I1852T;ENSP00000220616:I1909T;ENSP00000441693:I279T;ENSP00000430430:I63T|.	ENSP00000220616:I1909T|.	I|X	+|+	2|1	0|0	TG|TG	134049260|134049260	0.417000|0.417000	0.25432|0.25432	0.027000|0.027000	0.17364|0.17364	0.052000|0.052000	0.14988|0.14988	5.197000|5.197000	0.65141|0.65141	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	ATA|TAA	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379606.1		+	ENST00000220616.4	Missense_Mutation	SNP	8 : 133980078 - 133980078 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	179	36
DDX39A	10212	broad.mit.edu	37	19	14521030	14521030	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14521030C>T	ENST00000242776.4	-	6	831	c.730G>A	c.(730-732)Gat>Aat	p.D244N	DDX39A_ENST00000454233.2_Missense_Mutation_p.D244N|DDX39A_ENST00000592927.1_5'UTR	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A	244	Helicase ATP-binding.				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						CTACTCACATCCTGCATGAAC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	98	114			NA	NA	19		NA											NA				14521030		2203	4300	6503	SO:0001583	missense			U90426	CCDS12308.1	19p13.12	2011-02-08	2011-02-08	2011-02-08	ENSG00000123136	ENSG00000123136	10212	10212		DEAD-boxes	17821	protein-coding gene	gene with protein product	UAP56-related helicase, 49 kDa		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 39, DEAD (Asp-Glu-Ala-Asp) box polypeptide 39	DDX39	NA	7601445	Standard	NM_138998	NM_005804	NA	Approved	DDXL, BAT1L, URH49	uc002myo.3	O00148		ENST00000242776.4:c.730G>A	19.37:g.14521030C>T	ENSP00000242776:p.Asp244Asn	NA	Q9BVP6|Q9H5W0	37	CCDS12308.1	.	.	.	.	.	.	.	.	.	.	c	13.91	2.376840	0.42105	.	.	ENSG00000123136	ENST00000451994;ENST00000242776;ENST00000324340;ENST00000454233	T;T;T	0.41758	3.53;0.99;0.99	4.96	4.96	0.65561	DEAD-like helicase (2);	0.000000	0.85682	D	0.000000	T	0.23806	0.0576	N	0.04148	-0.265	0.80722	D	1	B;B	0.24186	0.099;0.002	B;B	0.29785	0.107;0.004	T	0.10683	-1.0619	10	0.13853	T	0.58	-31.4115	15.6956	0.77494	0.0:1.0:0.0:0.0	.	244;244	B1Q2N1;O00148	.;DX39A_HUMAN	N	287;244;244;244	ENSP00000242776:D244N;ENSP00000322749:D244N;ENSP00000392929:D244N	ENSP00000242776:D244N	D	-	1	0	DDX39A	14382030	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	6.812000	0.75226	2.300000	0.77407	0.556000	0.70494	GAT	DDX39A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459880.1		-	ENST00000242776.4	Missense_Mutation	SNP	19 : 14521030 - 14521030 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	469	89
SIPA1L3	23094	broad.mit.edu	37	19	38682946	38682946	+	Missense_Mutation	SNP	C	C	T	rs150063338	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38682946C>T	ENST00000222345.6	+	17	5101	c.4592C>T	c.(4591-4593)aCg>aTg	p.T1531M		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1531					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GAGAGAGACACGGGAGTACGT	0.612		NA											C	5	0.0023	NA	NA	2184	0.01	1	,	,	NA	3e-04	NA	NA	NA	0.0023	1	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0													63	54	57			NA	NA	19		NA											NA				38682946		2203	4300	6503	SO:0001583	missense			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738	23094	23094			23801	protein-coding gene	gene with protein product					NA		Standard	XM_032278	XM_005258671	NA	Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.4592C>T	19.37:g.38682946C>T	ENSP00000222345:p.Thr1531Met	NA	Q2TV87	37	CCDS33007.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	C	13.70	2.314557	0.40996	.	.	ENSG00000105738	ENST00000222345	T	0.31247	1.5	5.46	3.32	0.38043	.	1.492440	0.04489	N	0.379220	T	0.13927	0.0337	N	0.08118	0	0.09310	N	1	P	0.45672	0.864	B	0.41332	0.354	T	0.17653	-1.0362	10	0.45353	T	0.12	-0.2811	7.5496	0.27788	0.0:0.7354:0.0:0.2646	.	1531	O60292	SI1L3_HUMAN	M	1531	ENSP00000222345:T1531M	ENSP00000222345:T1531M	T	+	2	0	SIPA1L3	43374786	0.001000	0.12720	0.003000	0.11579	0.231000	0.25187	1.134000	0.31442	0.657000	0.30906	0.455000	0.32223	ACG	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000156294.2		+	ENST00000222345.6	Missense_Mutation	SNP	19 : 38682946 - 38682946 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	223	34
DNAH3	55567	broad.mit.edu	37	16	21049222	21049222	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21049222C>T	ENST00000261383.3	-	34	4810	c.4811G>A	c.(4810-4812)cGc>cAc	p.R1604H	DNAH3_ENST00000415178.1_Missense_Mutation_p.R1604H	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1604	AAA 1 (By similarity).			YGMR -> FGLH (in Ref. 5; CAB06059).	ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTGACAGCGCGCATACCGTA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	97	106			NA	NA	16		NA											NA				21049222		2201	4300	6501	SO:0001583	missense			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486	55567	55567		Axonemal dyneins	2949	protein-coding gene	gene with protein product		603334	dynein, axonemal, heavy polypeptide 3		NA	9256245, 9373155	Standard	NM_017539	NM_017539	NA	Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4811G>A	16.37:g.21049222C>T	ENSP00000261383:p.Arg1604His	NA	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	34	5.393775	0.96009	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.67865	-0.29;-0.29	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.90160	0.6925	H	0.98883	4.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93649	0.6971	10	0.87932	D	0	.	19.9616	0.97254	0.0:1.0:0.0:0.0	.	1604	Q8TD57	DYH3_HUMAN	H	1604	ENSP00000261383:R1604H;ENSP00000394245:R1604H	ENSP00000261383:R1604H	R	-	2	0	DNAH3	20956723	1.000000	0.71417	0.986000	0.45419	0.814000	0.46013	7.764000	0.85297	2.724000	0.93272	0.561000	0.74099	CGC	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207361.1		-	ENST00000261383.3	Missense_Mutation	SNP	16 : 21049222 - 21049222 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	48
RBM39	9584	broad.mit.edu	37	20	34319920	34319920	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34319920C>T	ENST00000361162.6	-	4	623	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	RBM39_ENST00000407261.4_5'UTR|RBM39_ENST00000253363.6_Missense_Mutation_p.R80Q|RBM39_ENST00000528062.3_Missense_Mutation_p.R80Q	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39	80	Arg/Ser-rich (RS domain).				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					GCGGCTCCGTCGCCTCTCTTT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													184	174	177			NA	NA	20		NA											NA				34319920		2203	4300	6503	SO:0001583	missense			L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051	9584	9584		RNA binding motif (RRM) containing	15923	protein-coding gene	gene with protein product	coactivator of activating protein-1 and estrogen receptors, functional spliceosome-associated protein 59	604739	RNA-binding region (RNP1, RRM) containing 2	RNPC2	NA	8227358, 15694343, 21551269	Standard	NM_184237	NM_184234	NA	Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000361162.6:c.239G>A	20.37:g.34319920C>T	ENSP00000354437:p.Arg80Gln	NA	A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	37	CCDS13265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	24.7|24.7	4.556659|4.556659	0.86231|0.86231	.|.	.|.	ENSG00000131051|ENSG00000131051	ENST00000426951|ENST00000253363;ENST00000361162;ENST00000528062;ENST00000374038;ENST00000427743;ENST00000434927	.|T;T;T;T;T;T	.|0.42900	.|3.45;3.45;1.0;3.48;3.48;0.96	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	.|0.099966	.|0.64402	.|D	.|0.000004	T|T	0.47358|0.47358	0.1441|0.1441	M|M	0.78456|0.78456	2.415|2.415	0.80722|0.80722	D|D	1|1	.|P;P;P;P;P	.|0.46327	.|0.804;0.804;0.876;0.804;0.804	.|B;B;B;B;B	.|0.39738	.|0.163;0.163;0.308;0.163;0.114	T|T	0.47560|0.47560	-0.9108|-0.9108	5|10	.|0.17832	.|T	.|0.49	.|.	20.2836|20.2836	0.98532|0.98532	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|80;80;80;80;56	.|B4DRA0;A2RRD3;Q14498-2;Q14498;B3KWX7	.|.;.;.;RBM39_HUMAN;.	N|Q	68|80	.|ENSP00000253363:R80Q;ENSP00000354437:R80Q;ENSP00000436747:R80Q;ENSP00000363150:R80Q;ENSP00000406801:R80Q;ENSP00000393493:R80Q	.|ENSP00000253363:R80Q	D|R	-|-	1|2	0|0	RBM39|RBM39	33783334|33783334	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	4.396000|4.396000	0.59684|0.59684	2.789000|2.789000	0.95967|0.95967	0.651000|0.651000	0.88453|0.88453	GAC|CGA	RBM39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078930.2		-	ENST00000361162.6	Missense_Mutation	SNP	20 : 34319920 - 34319920 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1207	231
SPHKAP	80309	broad.mit.edu	37	2	228996712	228996712	+	Missense_Mutation	SNP	A	A	G	rs77015733		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228996712A>G	ENST00000392056.3	-	2	168	c.122T>C	c.(121-123)aTc>aCc	p.I41T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.I41T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	41						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACAGGCTGTGATGGAGTTCCC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	96	94			NA	NA	2		NA											NA				228996712		2203	4300	6503	SO:0001583	missense				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820	80309	80309		A-kinase anchor proteins	30619	protein-coding gene	gene with protein product	sphingosine kinase type 1-interacting protein	611646			NA	12080051, 11214970	Standard	NM_030623	NM_030623	NA	Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.122T>C	2.37:g.228996712A>G	ENSP00000375909:p.Ile41Thr	NA	Q68DA3|Q68DR8|Q9C0I5	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	A	13.08	2.129324	0.37630	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.36340	1.26;1.26	5.63	5.63	0.86233	.	0.151419	0.44483	D	0.000459	T	0.27524	0.0676	N	0.14661	0.345	0.39407	D	0.966687	P;P	0.47762	0.839;0.9	B;P	0.44990	0.276;0.466	T	0.14062	-1.0486	10	0.59425	D	0.04	-12.1023	12.5296	0.56106	1.0:0.0:0.0:0.0	.	41;41	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	T	41	ENSP00000375909:I41T;ENSP00000339886:I41T	ENSP00000339886:I41T	I	-	2	0	SPHKAP	228704956	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	4.777000	0.62361	2.281000	0.76405	0.533000	0.62120	ATC	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331750.1		-	ENST00000392056.3	Missense_Mutation	SNP	2 : 228996712 - 228996712 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	58
HNRNPM	4670	broad.mit.edu	37	19	8528515	8528515	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8528515C>A	ENST00000348943.3	+	5	615	c.383C>A	c.(382-384)gCt>gAt	p.A128D	HNRNPM_ENST00000325495.4_Missense_Mutation_p.A128D	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	128	RRM 1.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						ATGAAAAAAGCTGCGGAAGTC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	123	131			NA	NA	19		NA											NA				8528515		2203	4300	6503	SO:0001583	missense			L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783	4670	4670		RNA binding motif (RRM) containing	5046	protein-coding gene	gene with protein product	CEA receptor	160994		NAGR1, HNRPM	NA	8441656, 7558047	Standard		NM_005968	NA	Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000348943.3:c.383C>A	19.37:g.8528515C>A	ENSP00000325732:p.Ala128Asp	NA	Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	37	CCDS12204.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248285	0.80024	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159	D;T	0.88354	-2.37;1.16	6.17	6.17	0.99709	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.96667	0.8912	H	0.96048	3.76	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	D	0.97090	0.9790	10	0.87932	D	0	.	19.4432	0.94831	0.0:1.0:0.0:0.0	.	128;128;128;28	P52272;P52272-2;B4DEG4;Q59ES8	HNRPM_HUMAN;.;.;.	D	128;128;28	ENSP00000325376:A128D;ENSP00000325732:A128D	ENSP00000325376:A128D	A	+	2	0	HNRNPM	8434515	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	GCT	HNRNPM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460893.2		+	ENST00000348943.3	Missense_Mutation	SNP	19 : 8528515 - 8528515 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	83
IL6ST	3572	broad.mit.edu	37	5	55237336	55237336	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55237336G>A	ENST00000381298.2	-	17	2643	c.2331C>T	c.(2329-2331)ttC>ttT	p.F777F	IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000502326.3_Silent_p.F777F|CTD-2031P19.5_ENST00000576302.1_RNA|IL6ST_ENST00000381294.3_Silent_p.F716F|IL6ST_ENST00000336909.5_Silent_p.F777F|IL6ST_ENST00000536319.1_3'UTR	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	777					interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				CGGATCTTGAGAAGACTTGGA	0.463		NA	O		hepatocellular ca									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		5	5q11	3572	interleukin 6 signal transducer (gp130, oncostatin M receptor)		E	0													126	126	126			NA	NA	5		NA											NA				55237336		2203	4300	6503	SO:0001819	synonymous_variant			M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352	3572	3572		Interleukins and interleukin receptors, CD molecules, Fibronectin type III domain containing	6021	protein-coding gene	gene with protein product	gp130, oncostatin M receptor	600694	interleukin 6 signal transducer (gp130, oncostatin M receptor)		NA	2261637	Standard	NM_002184	NM_002184	NA	Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.2331C>T	5.37:g.55237336G>A		NA	A0N0L4|Q9UQ41	37	CCDS3971.1																																																																																			IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214146.3		-	ENST00000381298.2	Silent	SNP	5 : 55237336 - 55237336 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	610	108
A2ML1	144568	broad.mit.edu	37	12	9010616	9010616	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9010616A>C	ENST00000299698.7	+	26	3362	c.3182A>C	c.(3181-3183)gAt>gCt	p.D1061A	A2ML1_ENST00000539547.1_Missense_Mutation_p.D570A	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	905						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						AACATCCAGGATGCTCTCAAG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	99	100			NA	NA	12		NA											NA				9010616		1972	4153	6125	SO:0001583	missense			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535	144568	144568			23336	protein-coding gene	gene with protein product		610627	C3 and PZP-like, alpha-2-macroglobulin domain containing 9	CPAMD9	NA	16298998	Standard	NM_144670	NM_144670	NA	Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.3182A>C	12.37:g.9010616A>C	ENSP00000299698:p.Asp1061Ala	NA		37	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	A	10.54	1.378609	0.24944	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.37584	1.19;1.19;1.19	3.85	-0.536	0.11876	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.601795	0.15417	N	0.263424	T	0.24236	0.0587	L	0.28400	0.85	0.09310	N	1	P	0.37548	0.599	B	0.41135	0.348	T	0.15009	-1.0452	10	0.30854	T	0.27	.	6.1607	0.20362	0.4837:0.3779:0.0:0.1384	.	1061	A8K2U0	A2ML1_HUMAN	A	1061;1061;611;570	ENSP00000299698:D1061A;ENSP00000443174:D611A;ENSP00000438292:D570A	ENSP00000299698:D1061A	D	+	2	0	A2ML1	8901883	0.080000	0.21391	0.998000	0.56505	0.597000	0.36814	1.458000	0.35223	0.129000	0.18514	-0.333000	0.08304	GAT	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250304.3		+	ENST00000299698.7	Missense_Mutation	SNP	12 : 9010616 - 9010616 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	497	108
NPY2R	4887	broad.mit.edu	37	4	156136031	156136031	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156136031G>A	ENST00000329476.3	+	2	1429	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	NPY2R_ENST00000506608.1_Missense_Mutation_p.A314T	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	314					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CCACATCATCGCCATGTGCTC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	97	106			NA	NA	4		NA											NA				156136031		2203	4300	6503	SO:0001583	missense			U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149	4887	4887		GPCR / Class A : Neuropeptide receptors : Y	7957	protein-coding gene	gene with protein product		162642			NA	7559383	Standard	NM_000910	NM_000910	NA	Approved		uc003ioq.3	P49146		ENST00000329476.3:c.940G>A	4.37:g.156136031G>A	ENSP00000332591:p.Ala314Thr	NA	Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	37	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668224	0.88348	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.69175	-0.38;-0.38	5.86	5.86	0.93980	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.85517	0.5715	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87349	0.2336	10	0.87932	D	0	.	19.1661	0.93559	0.0:0.0:1.0:0.0	.	314	P49146	NPY2R_HUMAN	T	314	ENSP00000332591:A314T;ENSP00000426366:A314T	ENSP00000332591:A314T	A	+	1	0	NPY2R	156355481	1.000000	0.71417	0.977000	0.42913	0.722000	0.41435	9.869000	0.99810	2.770000	0.95276	0.643000	0.83706	GCC	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365128.1		+	ENST00000329476.3	Missense_Mutation	SNP	4 : 156136031 - 156136031 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	396	57
ABCA5	23461	broad.mit.edu	37	17	67285372	67285372	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67285372A>C	ENST00000392676.3	-	14	1912	c.1848T>G	c.(1846-1848)agT>agG	p.S616R	ABCA5_ENST00000588877.1_Missense_Mutation_p.S616R|ABCA5_ENST00000392677.2_Missense_Mutation_p.S616R			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	616	ABC transporter 1.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TTTGACCACCACTTAATTTTT	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	95	96			NA	NA	17		NA											NA				67285372		2203	4298	6501	SO:0001583	missense			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265	23461	23461		ATP binding cassette transporters / subfamily A	35	protein-coding gene	gene with protein product		612503			NA	8894702	Standard	NM_018672	NM_172232	NA	Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.1848T>G	17.37:g.67285372A>C	ENSP00000376443:p.Ser616Arg	NA	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	37	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	A	18.67	3.673074	0.67928	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	T;T	0.74002	-0.8;-0.8	5.19	2.89	0.33648	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.64402	D	0.000001	D	0.90202	0.6937	H	0.98883	4.36	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.79784	0.939;0.993	D	0.88819	0.3297	9	.	.	.	.	8.3706	0.32412	0.693:0.0:0.307:0.0	.	616;616	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	R	616	ENSP00000376444:S616R;ENSP00000376443:S616R	.	S	-	3	2	ABCA5	64796967	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.949000	0.29109	0.281000	0.22233	0.397000	0.26171	AGT	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450654.1		-	ENST00000392676.3	Missense_Mutation	SNP	17 : 67285372 - 67285372 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	290	62
NDUFA10	4705	broad.mit.edu	37	2	240960761	240960761	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240960761C>T	ENST00000307300.4	-	3	335	c.313G>A	c.(313-315)Gcc>Acc	p.A105T	NDUFA10_ENST00000252711.2_Missense_Mutation_p.A105T|NDUFA10_ENST00000404554.1_Missense_Mutation_p.A105T|NDUFA10_ENST00000407129.3_Missense_Mutation_p.A105T			O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	105					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	TAGTCGGTGGCGAGGGGCTTC	0.488		NA									OREG0015348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	91	91			NA	NA	2		NA											NA				240960761		2203	4300	6503	SO:0001583	missense			AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414	4705	4705		Mitochondrial respiratory chain complex / Complex I	7684	protein-coding gene	gene with protein product	complex I 42kDa subunit	603835	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)		NA	9878551	Standard	NM_004544	NM_004544	NA	Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000307300.4:c.313G>A	2.37:g.240960761C>T	ENSP00000302321:p.Ala105Thr	2423		37		.	.	.	.	.	.	.	.	.	.	C	8.627	0.892791	0.17613	.	.	ENSG00000130414	ENST00000252711;ENST00000404554;ENST00000422018;ENST00000443626;ENST00000307300;ENST00000407129	T;T;T;T;T	0.77489	-1.1;-1.1;-1.06;-1.08;-1.06	4.25	1.38	0.22167	.	0.804462	0.11893	N	0.519457	T	0.61211	0.2329	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.09022	0.0;0.002;0.0;0.002	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.44817	-0.9303	10	0.27785	T	0.31	-16.1577	4.4684	0.11700	0.0:0.4281:0.3652:0.2067	.	105;105;110;105	Q8WXC9;Q8N1B9;Q59FM0;O95299	.;.;.;NDUAA_HUMAN	T	105	ENSP00000252711:A105T;ENSP00000385697:A105T;ENSP00000411527:A105T;ENSP00000302321:A105T;ENSP00000383975:A105T	ENSP00000252711:A105T	A	-	1	0	NDUFA10	240609434	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.501000	0.22578	0.496000	0.27904	0.563000	0.77884	GCC	NDUFA10-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000326141.1		-	ENST00000307300.4	Missense_Mutation	SNP	2 : 240960761 - 240960761 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	322	84
LACE1	246269	broad.mit.edu	37	6	108687502	108687502	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108687502C>T	ENST00000368977.4	+	6	900	c.714C>T	c.(712-714)gtC>gtT	p.V238V		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	238							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		AAAACGGGGTCGTCGTTGTGG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	62	59	60		714	5.8	1	6		60	2,8598	3.0+/-9.4	0,2,4298	no	coding-synonymous	LACE1	NM_145315.3		0,2,6501	TT,TC,CC	NA	0.0233,0.0,0.0154		238/482	108687502	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AF520418	CCDS5067.1	6q22.1	2006-11-10			ENSG00000135537	ENSG00000135537	246269	246269			16411	protein-coding gene	gene with protein product	ATPase family gene 1 homolog (S. cerevisiae)				NA	12079282	Standard	NM_145315	XM_005266885	NA	Approved	AFG1	uc003psj.3	Q8WV93	OTTHUMG00000015324	ENST00000368977.4:c.714C>T	6.37:g.108687502C>T		NA	Q8N6A3	37	CCDS5067.1	.	.	.	.	.	.	.	.	.	.	C	9.449	1.090020	0.20390	0.0	2.33E-4	ENSG00000135537	ENST00000421954	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	T	0.47135	0.1429	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50931	-0.8769	4	.	.	.	-10.1505	7.6285	0.28226	0.0:0.8056:0.0:0.1944	.	.	.	.	L	106	.	.	S	+	2	0	LACE1	108794195	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.874000	0.28065	2.755000	0.94549	0.655000	0.94253	TCG	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041719.4		+	ENST00000368977.4	Silent	SNP	6 : 108687502 - 108687502 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	146	20
POGLUT1	56983	broad.mit.edu	37	3	119211264	119211264	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119211264A>C	ENST00000295588.4	+	11	1242	c.1158A>C	c.(1156-1158)aaA>aaC	p.K386N		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	386						endoplasmic reticulum lumen	UDP-glucosyltransferase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						TTATTCCCAAAATGTTGAAAA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	88	89			NA	NA	3		NA											NA				119211264		2203	4300	6503	SO:0001583	missense			BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389	56983	56983			22954	protein-coding gene	gene with protein product	KDELC family like 1	615618	chromosome 3 open reading frame 9, KTEL (Lys-Tyr-Glu-Leu) containing 1	C3orf9, KTELC1	NA	16524674	Standard	NM_152305	NM_152305	NA	Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.1158A>C	3.37:g.119211264A>C	ENSP00000295588:p.Lys386Asn	NA	B2RD13|Q53GJ4|Q8N2T1	37	CCDS2988.1	.	.	.	.	.	.	.	.	.	.	A	17.12	3.308750	0.60305	.	.	ENSG00000163389	ENST00000295588	T	0.23552	1.9	5.97	4.78	0.61160	.	0.308341	0.40818	N	0.001016	T	0.21801	0.0525	L	0.36672	1.1	0.27158	N	0.961245	B	0.31459	0.324	B	0.34038	0.174	T	0.18304	-1.0341	10	0.62326	D	0.03	-4.1653	10.3779	0.44092	0.8369:0.1631:0.0:0.0	.	386	Q8NBL1	PGLT1_HUMAN	N	386	ENSP00000295588:K386N	ENSP00000295588:K386N	K	+	3	2	POGLUT1	120693954	1.000000	0.71417	0.889000	0.34880	0.971000	0.66376	4.685000	0.61693	2.288000	0.76882	0.533000	0.62120	AAA	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355034.2		+	ENST00000295588.4	Missense_Mutation	SNP	3 : 119211264 - 119211264 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	51
FAM129A	116496	broad.mit.edu	37	1	184859344	184859344	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:184859344C>A	ENST00000367511.3	-	4	524	c.331G>T	c.(331-333)Gga>Tga	p.G111*		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	111					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GGAGCAGCTCCTCTCTGATAG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	71	71			NA	NA	1		NA											NA				184859344		2203	4300	6503	SO:0001587	stop_gained			AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842	116496	116496			16784	protein-coding gene	gene with protein product	cell growth inhibiting protein 39		chromosome 1 open reading frame 24	C1orf24	NA	15085203, 16444351	Standard		NM_052966	NA	Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.331G>T	1.37:g.184859344C>A	ENSP00000356481:p.Gly111*	NA	Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	37	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	C	37	6.386892	0.97524	.	.	ENSG00000135842	ENST00000367511	.	.	.	5.71	4.79	0.61399	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-23.069	12.7785	0.57464	0.0:0.8357:0.1643:0.0	.	.	.	.	X	111	.	ENSP00000356481:G111X	G	-	1	0	FAM129A	183125967	0.993000	0.37304	0.989000	0.46669	0.450000	0.32258	3.074000	0.50065	1.387000	0.46486	0.655000	0.94253	GGA	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085786.1		-	ENST00000367511.3	Nonsense_Mutation	SNP	1 : 184859344 - 184859344 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	310	85
CLRN1	7401	broad.mit.edu	37	3	150645882	150645882	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150645882C>T	ENST00000327047.1	-	3	830	c.540G>A	c.(538-540)acG>acA	p.T180T	RP11-166N6.3_ENST00000569170.1_Intron|CLRN1_ENST00000295911.2_Silent_p.T104T|CLRN1_ENST00000328863.4_Silent_p.T193T|RP11-166N6.2_ENST00000469268.1_RNA|CLRN1-AS1_ENST00000476886.1_RNA	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	180					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTTCACTTTGCGTTTTGTAGA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	75	73			NA	NA	3		NA											NA				150645882		2203	4300	6503	SO:0001819	synonymous_variant			AF388366	CCDS3153.1, CCDS35492.1, CCDS56285.1	3q25.1	2014-09-17	2006-11-23	2006-11-23	ENSG00000163646	ENSG00000163646	7401	7401			12605	protein-coding gene	gene with protein product		606397	Usher syndrome 3A	USH3, USH3A, RP61	NA	7711740, 8975700	Standard		NM_052995	NA	Approved		uc021xfr.1	P58418	OTTHUMG00000140368	ENST00000327047.1:c.540G>A	3.37:g.150645882C>T		NA	D3DNJ3|Q8N6A9	37	CCDS3153.1																																																																																			CLRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277060.1		-	ENST00000327047.1	Silent	SNP	3 : 150645882 - 150645882 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	285	55
EPAS1	2034	broad.mit.edu	37	2	46608739	46608739	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46608739G>A	ENST00000263734.3	+	13	2560	c.2050G>A	c.(2050-2052)Gca>Aca	p.A684T		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	684					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TGGCAGGTCTGCAAAGGGTTT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	49	49			NA	NA	2		NA											NA				46608739		2203	4300	6503	SO:0001583	missense			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016	2034	2034		Basic helix-loop-helix proteins	3374	protein-coding gene	gene with protein product	HIF-1 alpha-like factor	603349			NA	9000051, 9079689, 18378852	Standard	NM_001430	NM_001430	NA	Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.2050G>A	2.37:g.46608739G>A	ENSP00000263734:p.Ala684Thr	NA	Q86VA2|Q99630	37	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.396695	0.25205	.	.	ENSG00000116016	ENST00000263734	T	0.47869	0.83	5.19	4.31	0.51392	.	1.793810	0.02489	N	0.089240	T	0.27832	0.0685	N	0.08118	0	0.09310	N	0.999996	B	0.26258	0.145	B	0.21546	0.035	T	0.28933	-1.0028	10	0.22706	T	0.39	.	3.7445	0.08542	0.09:0.1778:0.5723:0.1599	.	684	Q99814	EPAS1_HUMAN	T	684	ENSP00000263734:A684T	ENSP00000263734:A684T	A	+	1	0	EPAS1	46462243	0.988000	0.35896	1.000000	0.80357	0.889000	0.51656	0.675000	0.25232	2.416000	0.81992	0.563000	0.77884	GCA	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250752.2		+	ENST00000263734.3	Missense_Mutation	SNP	2 : 46608739 - 46608739 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	391	97
KRTAP5-3	387266	broad.mit.edu	37	11	1629124	1629124	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1629124G>A	ENST00000399685.1	-	1	569	c.492C>T	c.(490-492)tgC>tgT	p.C164C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	164	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		actgggaacagcagGGCTTAC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	149	146			NA	NA	11		NA											NA				1629124		2202	4299	6501	SO:0001819	synonymous_variant			AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224	387266	387266		Keratin associated proteins	23598	protein-coding gene	gene with protein product					NA	15144888	Standard		NM_001012708	NA	Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.492C>T	11.37:g.1629124G>A		NA	Q6PL44|Q701N3	37	CCDS41591.1																																																																																			KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000127924.1		-	ENST00000399685.1	Silent	SNP	11 : 1629124 - 1629124 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1876	337
HSD17B3	3293	broad.mit.edu	37	9	98997811	98997811	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:98997811G>A	ENST00000375263.3	-	11	911	c.864C>T	c.(862-864)agC>agT	p.S288S	HSD17B3_ENST00000464104.1_5'UTR|HSD17B3_ENST00000375262.2_Silent_p.S238S	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	288					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	GGAAGGCACCGCTGTAGAAGG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	74	80			NA	NA	9		NA											NA				98997811		2203	4300	6503	SO:0001819	synonymous_variant				CCDS6716.1	9q22	2011-09-20			ENSG00000130948	ENSG00000130948	3293	3293	1.1.1.62	Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3	5212	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 12C, member 2	605573			NA	8075637, 19027726	Standard	NM_000197	NM_000197	NA	Approved	SDR12C2	uc004awa.1	P37058	OTTHUMG00000020292	ENST00000375263.3:c.864C>T	9.37:g.98997811G>A		NA		37	CCDS6716.1																																																																																			HSD17B3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053259.1		-	ENST00000375263.3	Silent	SNP	9 : 98997811 - 98997811 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	180	24
ZNF646	9726	broad.mit.edu	37	16	31087864	31087864	+	Silent	SNP	C	C	T	rs141568956	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31087864C>T	ENST00000394979.2	+	1	642	c.219C>T	c.(217-219)ggC>ggT	p.G73G	ZNF646_ENST00000300850.5_Silent_p.G73G			O15015	ZN646_HUMAN	zinc finger protein 646	73					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						ACGAGACTGGCCTTTTCCCCT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	61	75			NA	NA	16		NA											NA				31087864		2197	4300	6497	SO:0001819	synonymous_variant			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395	9726	9726		Zinc fingers, C2H2-type	29004	protein-coding gene	gene with protein product					NA		Standard	NM_014699	NM_014699	NA	Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.219C>T	16.37:g.31087864C>T		NA	Q8IVD8	37																																																																																				ZNF646-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000108510.2		+	ENST00000394979.2	Silent	SNP	16 : 31087864 - 31087864 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	370	77
PHKG1	5260	broad.mit.edu	37	7	56155329	56155329	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56155329A>G	ENST00000297373.2	-	3	418	c.224T>C	c.(223-225)gTg>gCg	p.V75A	PHKG1_ENST00000452681.2_Missense_Mutation_p.V75A|PHKG1_ENST00000489604.1_5'UTR|PHKG1_ENST00000537360.1_Silent_p.G39G	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	75	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAGGATGTCCACCTCCTTCAG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(184;580 2064 5329 24177 35303)							NA				0													77	51	60			NA	NA	7		NA											NA				56155329		2203	4300	6503	SO:0001583	missense			X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	5260	5260	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG	NA	8530014	Standard	NM_006213	NM_001258459	NA	Approved		uc011kdb.2	Q16816	OTTHUMG00000023869	ENST00000297373.2:c.224T>C	7.37:g.56155329A>G	ENSP00000297373:p.Val75Ala	NA	Q75LP5	37	CCDS5525.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.233249	0.58886	.	.	ENSG00000164776	ENST00000452681;ENST00000297373	T;T	0.66280	-0.2;1.02	5.42	5.42	0.78866	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.095040	0.43747	D	0.000535	T	0.68100	0.2964	L	0.53561	1.675	0.80722	D	1	B;P;P	0.41008	0.064;0.735;0.613	B;B;P	0.51079	0.338;0.287;0.658	T	0.64554	-0.6380	10	0.27082	T	0.32	-36.2881	14.9413	0.70994	1.0:0.0:0.0:0.0	.	75;75;75	B7Z6U2;F5H2S1;Q16816	.;.;PHKG1_HUMAN	A	75	ENSP00000445440:V75A;ENSP00000297373:V75A	ENSP00000297373:V75A	V	-	2	0	PHKG1	56122823	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.273000	0.95719	2.189000	0.69895	0.460000	0.39030	GTG	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251587.1		-	ENST00000297373.2	Missense_Mutation	SNP	7 : 56155329 - 56155329 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	192	37
PDE1B	5153	broad.mit.edu	37	12	54969384	54969384	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54969384G>A	ENST00000538346.1	+	11	1248	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H	PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000243052.3_Missense_Mutation_p.R412H|PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.R392H			Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	412	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						CTCTGTGACCGCACTTCCACT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	116	120			NA	NA	12		NA											NA				54969384		2203	4300	6503	SO:0001583	missense			U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	NA	5153	3.1.4.17	Phosphodiesterases	8775	protein-coding gene	gene with protein product		171891		PDES1B	NA	8855339, 9419816	Standard		NM_000924	NA	Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000538346.1:c.1112G>A	12.37:g.54969384G>A	ENSP00000442559:p.Arg371His	NA	Q92825|Q96KP3	37		.	.	.	.	.	.	.	.	.	.	G	29.6	5.022590	0.93462	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	D;D;D	0.84873	-1.91;-1.91;-1.91	4.85	4.85	0.62838	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.64402	D	0.000001	D	0.94791	0.8318	H	0.95884	3.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.96332	0.9244	10	0.87932	D	0	.	15.8505	0.78927	0.0:0.0:1.0:0.0	.	392;412	Q01064-2;Q01064	.;PDE1B_HUMAN	H	412;371;392	ENSP00000243052:R412H;ENSP00000442559:R371H;ENSP00000448519:R392H	ENSP00000243052:R412H	R	+	2	0	PDE1B	53255651	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.699000	0.98703	2.402000	0.81655	0.655000	0.94253	CGC	PDE1B-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000406206.1		+	ENST00000538346.1	Missense_Mutation	SNP	12 : 54969384 - 54969384 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	607	95
MIEN1	84299	broad.mit.edu	37	17	37885946	37885946	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37885946C>A	ENST00000394231.3	-	3	547	c.256G>T	c.(256-258)Gag>Tag	p.E86*	MIEN1_ENST00000577810.1_Nonsense_Mutation_p.E86*|MIEN1_ENST00000474210.1_5'UTR|ERBB2_ENST00000584888.1_Intron			Q9BRT3	CQ037_HUMAN	migration and invasion enhancer 1	86					cell redox homeostasis	cytosol|membrane	selenium binding				NA						ACATCTTTCTCATAGGGAAAG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													188	182	184			NA	NA	17		NA											NA				37885946		2203	4300	6503	SO:0001587	stop_gained			AJ308025	CCDS11344.1	17q12	2011-09-21	2011-09-21	2011-09-21	ENSG00000141741	ENSG00000141741	84299	84299			28230	protein-coding gene	gene with protein product		611802	chromosome 17 open reading frame 37	C17orf37	NA	17121940, 12739007, 17503775, 21628459	Standard	NM_032339	NM_032339	NA	Approved	MGC14832, ORB3, XTP4, C35, Rdx12	uc002hsq.3	Q9BRT3	OTTHUMG00000133252	ENST00000394231.3:c.256G>T	17.37:g.37885946C>A	ENSP00000377778:p.Glu86*	NA		37	CCDS11344.1	.	.	.	.	.	.	.	.	.	.	C	33	5.252296	0.95336	.	.	ENSG00000141741	ENST00000394231	.	.	.	5.8	5.8	0.92144	.	0.061551	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-13.6872	18.8259	0.92119	0.0:1.0:0.0:0.0	.	.	.	.	X	86	.	ENSP00000377778:E86X	E	-	1	0	C17orf37	35139472	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.060000	0.64312	2.746000	0.94184	0.591000	0.81541	GAG	MIEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257020.3		-	ENST00000394231.3	Nonsense_Mutation	SNP	17 : 37885946 - 37885946 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1100	94
FNDC1	84624	broad.mit.edu	37	6	159642721	159642721	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159642721G>T	ENST00000297267.9	+	6	959	c.759G>T	c.(757-759)aaG>aaT	p.K253N	FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Missense_Mutation_p.K253N	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	253						extracellular region		p.K253N(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CAAAGCGAAAGATTTCAGGTA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											101	110	107			NA	NA	6		NA											NA				159642721		1951	4142	6093	SO:0001583	missense			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694	84624	84624		Fibronectin type III domain containing	21184	protein-coding gene	gene with protein product		609991	fibronectin type III domain containing 2	FNDC2	NA	11347906	Standard	NM_032532	NM_032532	NA	Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.759G>T	6.37:g.159642721G>T	ENSP00000297267:p.Lys253Asn	NA	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	37	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.21|14.21	2.468197|2.468197	0.43839|0.43839	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000329629|ENST00000297267;ENST00000340366	.|T;T	.|0.08807	.|3.05;3.99	6.17|6.17	1.98|1.98	0.26296|0.26296	.|Fibronectin, type III (1);	.|0.111909	.|0.64402	.|D	.|0.000011	T|T	0.07052|0.07052	0.0179|0.0179	L|L	0.36672|0.36672	1.1|1.1	0.28380|0.28380	N|N	0.919585|0.919585	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.975	T|T	0.15093|0.15093	-1.0449|-1.0449	5|10	.|0.46703	.|T	.|0.11	-34.0927|-34.0927	6.5326|6.5326	0.22336|0.22336	0.5231:0.0:0.4769:0.0|0.5231:0.0:0.4769:0.0	.|.	.|253;253	.|Q4ZHG4-2;Q4ZHG4	.|.;FNDC1_HUMAN	Y|N	212|253	.|ENSP00000297267:K253N;ENSP00000342460:K253N	.|ENSP00000297267:K253N	D|K	+|+	1|3	0|2	FNDC1|FNDC1	159562709|159562709	1.000000|1.000000	0.71417|0.71417	0.658000|0.658000	0.29665|0.29665	0.810000|0.810000	0.45777|0.45777	1.578000|1.578000	0.36525|0.36525	0.492000|0.492000	0.27815|0.27815	0.655000|0.655000	0.94253|0.94253	GAT|AAG	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042897.3		+	ENST00000297267.9	Missense_Mutation	SNP	6 : 159642721 - 159642721 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	217	45
DNAH1	25981	broad.mit.edu	37	3	52389063	52389063	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52389063C>A	ENST00000420323.2	+	21	3946	c.3685C>A	c.(3685-3687)Ctg>Atg	p.L1229M		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1229	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAAACTGAAGCTGACCCAGGT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	92	91			NA	NA	3		NA											NA				52389063		2006	4153	6159	SO:0001583	missense			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841	25981	25981		Axonemal dyneins	2940	protein-coding gene	gene with protein product		603332	dynein, axonemal, heavy polypeptide 1		NA	8812413, 9256245	Standard	NM_015512	NM_015512	NA	Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.3685C>A	3.37:g.52389063C>A	ENSP00000401514:p.Leu1229Met	NA	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815470	0.32145	.	.	ENSG00000114841	ENST00000420323	T	0.62498	0.02	5.14	4.27	0.50696	.	0.195600	0.24935	N	0.034437	T	0.51702	0.1690	L	0.39147	1.195	0.34934	D	0.749625	B	0.32382	0.368	B	0.38327	0.271	T	0.59332	-0.7474	10	0.39692	T	0.17	.	5.0893	0.14700	0.2129:0.6141:0.0:0.173	.	1229	C9JXH6	.	M	1229	ENSP00000401514:L1229M	ENSP00000401514:L1229M	L	+	1	2	DNAH1	52364103	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	2.028000	0.41088	1.164000	0.42652	0.462000	0.41574	CTG	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350816.1		+	ENST00000420323.2	Missense_Mutation	SNP	3 : 52389063 - 52389063 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	55
BEND7	222389	broad.mit.edu	37	10	13489312	13489312	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13489312G>A	ENST00000341083.3	-	8	1331	c.1035C>T	c.(1033-1035)atC>atT	p.I345I	BEND7_ENST00000396900.2_Silent_p.I396I|BEND7_ENST00000486542.1_5'UTR|BEND7_ENST00000396898.2_Silent_p.I409I|BEND7_ENST00000378605.3_Silent_p.I357I	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	396	BEN.						protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						CACTGTCCGCGATCTCTGCTG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	155	164			NA	NA	10		NA											NA				13489312		2203	4300	6503	SO:0001819	synonymous_variant			BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626	222389	222389		BEN domain containing	23514	protein-coding gene	gene with protein product			chromosome 10 open reading frame 30	C10orf30	NA		Standard	NM_152751	NM_152751	NA	Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000341083.3:c.1035C>T	10.37:g.13489312G>A		NA	Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	37	CCDS7099.1																																																																																			BEND7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046863.1		-	ENST00000341083.3	Silent	SNP	10 : 13489312 - 13489312 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	594	69
SGSM1	129049	broad.mit.edu	37	22	25255780	25255780	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25255780C>T	ENST00000400358.4	+	9	956	c.899C>T	c.(898-900)tCt>tTt	p.S300F	SGSM1_ENST00000400359.4_Missense_Mutation_p.S300F	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	300						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						ATGAACGGGTCTGTGGGGGAC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	136	135			NA	NA	22		NA											NA				25255780		2046	4203	6249	SO:0001583	missense			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037	129049	129049		Small G protein signaling modulators	29410	protein-coding gene	gene with protein product		611417	RUN and TBC1 domain containing 2	RUTBC2	NA	11853319, 17509819, 22637480	Standard	XM_059318	NM_133454	NA	Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400358.4:c.899C>T	22.37:g.25255780C>T	ENSP00000383211:p.Ser300Phe	NA	A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|Q5TFL3|Q8TF60	37	CCDS46675.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926474	0.52759	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.08984	3.05;3.03	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.20088	0.0483	L	0.40543	1.245	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.997;0.998;0.998;0.997	D;P;D;D;D	0.85130	0.997;0.898;0.969;0.923;0.931	T	0.04825	-1.0924	10	0.18276	T	0.48	-17.0256	17.5542	0.87886	0.0:1.0:0.0:0.0	.	300;416;433;300;433	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1;B9A6J4	.;.;.;SGSM1_HUMAN;.	F	416;300;300	ENSP00000383211:S300F;ENSP00000383212:S300F	ENSP00000383211:S300F	S	+	2	0	SGSM1	23585780	0.941000	0.31946	1.000000	0.80357	0.487000	0.33371	2.708000	0.47152	2.460000	0.83146	0.655000	0.94253	TCT	SGSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320279.1		+	ENST00000400358.4	Missense_Mutation	SNP	22 : 25255780 - 25255780 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	805	127
GSTA4	2941	broad.mit.edu	37	6	52847504	52847504	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52847504C>T	ENST00000370960.1	-	3	389		c.e3-1		GSTA4_ENST00000370959.1_Splice_Site|GSTA4_ENST00000486559.1_Splice_Site|GSTA4_ENST00000541324.1_Splice_Site			O15217	GSTA4_HUMAN	glutathione S-transferase alpha 4	NA					glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity			endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	CCCTTAAAATCTGTAGGGAAA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	87	90			NA	NA	6		NA											NA				52847504		2203	4300	6503	SO:0001630	splice_region_variant			AF020918	CCDS4948.1	6p12.2	2012-06-21	2008-11-26		ENSG00000170899	ENSG00000170899	2941	2941	2.5.1.18	Glutathione S-transferases / Soluble	4629	protein-coding gene	gene with protein product		605450	glutathione S-transferase A4		NA	9480897	Standard	NM_001512	NM_001512	NA	Approved		uc003pbf.3	O15217	OTTHUMG00000014868	ENST00000370960.1:c.136-1G>A	6.37:g.52847504C>T		NA	B2RD15|Q5T7Q8|Q9BX18|Q9H414	37		.	.	.	.	.	.	.	.	.	.	C	12.24	1.878857	0.33162	.	.	ENSG00000170899	ENST00000370963;ENST00000541324;ENST00000370960;ENST00000370959;ENST00000457564	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0613	0.93095	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GSTA4	52955463	1.000000	0.71417	0.989000	0.46669	0.113000	0.19764	5.009000	0.63998	2.906000	0.99361	0.655000	0.94253	.	GSTA4-004	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000040947.1	Intron	-	ENST00000370960.1	Splice_Site	SNP	6 : 52847504 - 52847504 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	423	36
XIRP2	129446	broad.mit.edu	37	2	168102034	168102034	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168102034G>T	ENST00000409195.1	+	9	4221	c.4132G>T	c.(4132-4134)Gac>Tac	p.D1378Y	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1156Y|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1378Y	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1203					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CACACAAGAAGACATTCAGAA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	65	66			NA	NA	2		NA											NA				168102034		1841	4087	5928	SO:0001583	missense			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092	129446	129446			14303	protein-coding gene	gene with protein product	myomaxin	609778	cardiomyopathy associated 3	CMYA3	NA	17046827, 12203715, 15454575	Standard	NM_152381	NM_001079810	NA	Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.4132G>T	2.37:g.168102034G>T	ENSP00000386840:p.Asp1378Tyr	NA	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816694	0.90790	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.06608	3.29;3.29;3.28	5.78	5.78	0.91487	.	0.105878	0.64402	D	0.000006	T	0.30103	0.0754	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.00984	-1.1491	10	0.87932	D	0	-17.2332	19.6068	0.95584	0.0:0.0:1.0:0.0	.	1203;1203;1156	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Y	1378;1378;1156	ENSP00000386840:D1378Y;ENSP00000295237:D1378Y;ENSP00000387255:D1156Y	ENSP00000295237:D1378Y	D	+	1	0	XIRP2	167810280	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.652000	0.83633	2.744000	0.94065	0.563000	0.77884	GAC	XIRP2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333547.1		+	ENST00000409195.1	Missense_Mutation	SNP	2 : 168102034 - 168102034 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	411	65
MORC3	23515	broad.mit.edu	37	21	37717329	37717329	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37717329G>T	ENST00000400485.1	+	8	1081	c.1005G>T	c.(1003-1005)agG>agT	p.R335S	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	335					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GTCAGTTAAGGGTAAGCTTTA	0.284		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	66	66			NA	NA	21		NA											NA				37717329		1805	4070	5875	SO:0001630	splice_region_variant			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256	23515	23515			23572	protein-coding gene	gene with protein product		610078	zinc finger, CW-type with coiled-coil domain 3, zinc finger, CW type with coiled-coil domain 3	ZCWCC3	NA	14607086	Standard	NM_015358	NM_015358	NA	Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.1005+1G>T	21.37:g.37717329G>T		NA	A8KA92|Q9UEZ2	37	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010232	0.75046	.	.	ENSG00000159256	ENST00000400485	T	0.13657	2.57	5.51	5.51	0.81932	.	0.299915	0.40640	N	0.001045	T	0.09291	0.0229	N	0.04508	-0.205	0.80722	D	1	B	0.23185	0.081	B	0.21546	0.035	T	0.29427	-1.0012	10	0.62326	D	0.03	-11.3544	19.4173	0.94706	0.0:0.0:1.0:0.0	.	335	Q14149	MORC3_HUMAN	S	335	ENSP00000383333:R335S	ENSP00000383333:R335S	R	+	3	2	MORC3	36639199	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.798000	0.85924	2.588000	0.87417	0.655000	0.94253	AGG	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000194640.1	Missense_Mutation	+	ENST00000400485.1	Splice_Site	SNP	21 : 37717329 - 37717329 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	208	10
AL445989.1	0	broad.mit.edu	37	13	64321008	64321008	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:64321008C>A	ENST00000453638.2	+	1	75	c.75C>A	c.(73-75)ggC>ggA	p.G25G							NA										endometrium(2)|lung(1)|urinary_tract(1)	4						ctggttatggctatggctatg	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000453638.2:c.75C>A	13.37:g.64321008C>A		NA		37																																																																																				AL445989.1-201	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding			+	ENST00000453638.2	Silent	SNP	13 : 64321008 - 64321008 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	286	51
INF2	64423	broad.mit.edu	37	14	105180722	105180722	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105180722C>T	ENST00000392634.4	+	21	3335	c.3223C>T	c.(3223-3225)Cgt>Tgt	p.R1075C	INF2_ENST00000330634.7_Missense_Mutation_p.R1075C	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1075					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CCTGGAGAGGCGTTCTTCCTG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	48	45			NA	NA	14		NA											NA				105180722		1935	4114	6049	SO:0001583	missense			AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485	64423	64423			23791	protein-coding gene	gene with protein product	inverted formin 2	610982	chromosome 14 open reading frame 151, chromosome 14 open reading frame 173	C14orf151, C14orf173	NA	16818491	Standard	NM_022489	NM_001031714	NA	Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.3223C>T	14.37:g.105180722C>T	ENSP00000376410:p.Arg1075Cys	NA	Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	37	CCDS9989.2	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726340	0.48833	.	.	ENSG00000203485	ENST00000330634;ENST00000392634	D;D	0.82255	-1.58;-1.59	4.06	3.15	0.36227	.	2.226690	0.02138	N	0.056942	D	0.86264	0.5891	L	0.34521	1.04	0.47065	D	0.9993	D;D	0.89917	1.0;0.999	P;P	0.60886	0.88;0.761	T	0.73783	-0.3874	10	0.72032	D	0.01	.	9.5272	0.39171	0.2117:0.7883:0.0:0.0	.	1075;1075	Q27J81-2;Q27J81	.;INF2_HUMAN	C	1075	ENSP00000376406:R1075C;ENSP00000376410:R1075C	ENSP00000252527:R543C	R	+	1	0	INF2	104251767	1.000000	0.71417	0.077000	0.20336	0.958000	0.62258	2.098000	0.41757	0.979000	0.38497	0.491000	0.48974	CGT	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000074371.4		+	ENST00000392634.4	Missense_Mutation	SNP	14 : 105180722 - 105180722 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	69	11
GSN	2934	broad.mit.edu	37	9	124091191	124091191	+	Silent	SNP	C	C	T	rs145066574		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124091191C>T	ENST00000373823.3	+	22	2690	c.1785C>T	c.(1783-1785)ggC>ggT	p.G595G	GSN_ENST00000449733.1_Silent_p.G595G|GSN_ENST00000436847.1_Silent_p.G606G|GSN_ENST00000341272.2_Silent_p.G595G|GSN_ENST00000412819.1_Silent_p.G595G|GSN_ENST00000373808.2_Silent_p.G595G|GSN_ENST00000373818.4_Silent_p.G646G|GSN_ENST00000545652.1_Silent_p.G603G|GSN_ENST00000394353.2_Silent_p.G606G|GSN_ENST00000373807.1_Silent_p.G377G|GSN_ENST00000373806.1_Silent_p.G71G			P06396	GELS_HUMAN	gelsolin	646	Actin-binding, Ca-sensitive (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						AGGCCCTGGGCGGGAAGGCTG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,,,,,,	0,4406		0,0,2203	63	58	60		1938,1785,1785,1785,1785,1818,1818,1785	-0.3	1	9	dbSNP_134	60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GSN	NM_000177.4,NM_001127662.1,NM_001127663.1,NM_001127664.1,NM_001127665.1,NM_001127666.1,NM_001127667.1,NM_198252.2	,,,,,,,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,,,,,,,	646/783,595/732,595/732,595/732,595/732,606/743,606/743,595/732	124091191	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180	2934	2934			4620	protein-coding gene	gene with protein product	amyloidosis, Finnish type	137350	gelsolin (amyloidosis, Finnish type)		NA	1652889	Standard	NM_000177	NM_001127662	NA	Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373823.3:c.1785C>T	9.37:g.124091191C>T		NA	Q8WVV7	37	CCDS6829.1																																																																																			GSN-013	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254323.3		+	ENST00000373823.3	Silent	SNP	9 : 124091191 - 124091191 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	278	15
THOC6	79228	broad.mit.edu	37	16	3076719	3076719	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3076719G>A	ENST00000326266.8	+	8	819	c.523G>A	c.(523-525)Gca>Aca	p.A175T	THOC6_ENST00000574549.1_Missense_Mutation_p.A151T|THOC6_ENST00000253952.9_Missense_Mutation_p.A175T|THOC6_ENST00000575576.1_Missense_Mutation_p.A151T	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	175					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						CCACTGCCTGGCACTGCGGGA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	65	67			NA	NA	16		NA											NA				3076719		2198	4300	6498	SO:0001583	missense			BC050674	CCDS10491.1, CCDS45392.1	16p13.3	2013-02-11	2006-03-02	2006-03-02		ENSG00000131652	79228	79228		WD repeat domain containing, THO complex subunits	28369	protein-coding gene	gene with protein product	functional spliceosome-associated protein 35	615403	WD repeat domain 58	WDR58	NA	12477932	Standard	NM_024339	NM_024339	NA	Approved	MGC2655, fSAP35	uc002ctb.2	Q86W42		ENST00000326266.8:c.523G>A	16.37:g.3076719G>A	ENSP00000326531:p.Ala175Thr	NA	B2RA85|Q8NBR1|Q9BTV9	37	CCDS10491.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591751	0.46214	.	.	ENSG00000131652	ENST00000326266;ENST00000253952	T;T	0.63744	-0.06;-0.06	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.161710	0.53938	D	0.000043	T	0.59432	0.2193	L	0.52759	1.655	0.39501	D	0.968208	B;B	0.29552	0.208;0.248	B;B	0.30179	0.068;0.112	T	0.60326	-0.7285	10	0.46703	T	0.11	-22.8815	17.0618	0.86549	0.0:0.0:1.0:0.0	.	175;175	Q86W42-3;Q86W42	.;THOC6_HUMAN	T	175	ENSP00000326531:A175T;ENSP00000253952:A175T	ENSP00000253952:A175T	A	+	1	0	THOC6	3016720	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.137000	0.42130	2.631000	0.89168	0.561000	0.74099	GCA	THOC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000436981.1		+	ENST00000326266.8	Missense_Mutation	SNP	16 : 3076719 - 3076719 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	163	7
DZIP1L	199221	broad.mit.edu	37	3	137787054	137787054	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:137787054C>T	ENST00000327532.2	-	13	2133	c.1771G>A	c.(1771-1773)Gct>Act	p.A591T		NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	591						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						GGGCGTGGAGCGGGGGCGGAC	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	49	47			NA	NA	3		NA											NA				137787054		2203	4299	6502	SO:0001583	missense			AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163	199221	199221			26551	protein-coding gene	gene with protein product			DAZ interacting protein 1-like		NA	12477932	Standard	NM_173543	NM_173543	NA	Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.1771G>A	3.37:g.137787054C>T	ENSP00000332148:p.Ala591Thr	NA	C9JUG5|Q96M38	37	CCDS3096.1	.	.	.	.	.	.	.	.	.	.	C	6.214	0.407542	0.11754	.	.	ENSG00000158163	ENST00000327532	T	0.38560	1.13	4.91	-0.64	0.11493	.	0.988360	0.08252	N	0.974395	T	0.17746	0.0426	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24799	-1.0150	10	0.24483	T	0.36	0.5692	7.6678	0.28441	0.0:0.3723:0.0:0.6277	.	591	Q8IYY4	DZI1L_HUMAN	T	591	ENSP00000332148:A591T	ENSP00000332148:A591T	A	-	1	0	DZIP1L	139269744	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.192000	0.03052	-0.198000	0.10333	-0.300000	0.09419	GCT	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357548.1		-	ENST00000327532.2	Missense_Mutation	SNP	3 : 137787054 - 137787054 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	415	86
IL1B	3553	broad.mit.edu	37	2	113588108	113588108	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113588108G>A	ENST00000263341.2	-	7	850	c.640C>T	c.(640-642)Cga>Tga	p.R214*	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	214					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	AAGACAAATCGCTTTTCCATC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													191	185	187			NA	NA	2		NA											NA				113588108		2203	4300	6503	SO:0001587	stop_gained			M15330	CCDS2102.1	2q14	2014-01-30			ENSG00000125538	ENSG00000125538	3553	3553		Interleukins and interleukin receptors, Endogenous ligands	5992	protein-coding gene	gene with protein product		147720			NA	2954882, 2989698	Standard	NM_000576	NM_000576	NA	Approved	IL1F2, IL-1B, IL1-BETA	uc002tii.1	P01584	OTTHUMG00000131344	ENST00000263341.2:c.640C>T	2.37:g.113588108G>A	ENSP00000263341:p.Arg214*	NA	Q53X59|Q53XX2|Q7M4S7|Q7RU01|Q96HE5|Q9UCT6	37	CCDS2102.1	.	.	.	.	.	.	.	.	.	.	G	37	6.234989	0.97399	.	.	ENSG00000125538	ENST00000263341	.	.	.	5.39	4.5	0.54988	.	0.059451	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9562	11.2899	0.49244	0.0:0.0:0.8182:0.1818	.	.	.	.	X	214	.	ENSP00000263341:R214X	R	-	1	2	IL1B	113304579	0.863000	0.29885	0.944000	0.38274	0.999000	0.98932	0.985000	0.29578	1.492000	0.48499	0.650000	0.86243	CGA	IL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254125.2		-	ENST00000263341.2	Nonsense_Mutation	SNP	2 : 113588108 - 113588108 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	810	95
SMARCAD1	56916	broad.mit.edu	37	4	95204434	95204434	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:95204434C>A	ENST00000509418.1	+	14	1986	c.1599C>A	c.(1597-1599)tgC>tgA	p.C533*	SMARCAD1_ENST00000457823.2_Nonsense_Mutation_p.C965*|SMARCAD1_ENST00000354268.4_Nonsense_Mutation_p.C963*	NM_001254949.1	NP_001241878.1	Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	963	Helicase ATP-binding.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		AAGATAGATGCCATAGAGTAG	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	114	114			NA	NA	4		NA											NA				95204434		2203	4300	6503	SO:0001587	stop_gained			AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104	56916	56916			18398	protein-coding gene	gene with protein product		612761			NA	11031099	Standard	NM_020159	NM_001128430	NA	Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000509418.1:c.1599C>A	4.37:g.95204434C>A	ENSP00000423286:p.Cys533*	NA	Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	37	CCDS58914.1	.	.	.	.	.	.	.	.	.	.	C	40	8.211293	0.98706	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	.	.	.	5.48	3.72	0.42706	.	0.000000	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5904	8.1683	0.31239	0.0:0.7039:0.0:0.2961	.	.	.	.	X	965;965;963;533	.	ENSP00000346217:C963X	C	+	3	2	SMARCAD1	95423457	0.996000	0.38824	1.000000	0.80357	0.984000	0.73092	0.457000	0.21875	1.289000	0.44618	0.591000	0.81541	TGC	SMARCAD1-006	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362981.2		+	ENST00000509418.1	Nonsense_Mutation	SNP	4 : 95204434 - 95204434 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	254	39
MOCOS	55034	broad.mit.edu	37	18	33780166	33780166	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33780166G>A	ENST00000261326.5	+	4	841	c.820G>A	c.(820-822)Gct>Act	p.A274T		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	274					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	AGGCCTGGGCGCTCTGCTGGT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	49	50			NA	NA	18		NA											NA				33780166		2203	4300	6503	SO:0001583	missense			AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643	55034	55034			18234	protein-coding gene	gene with protein product		613274			NA	11302742	Standard		NM_017947	NA	Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.820G>A	18.37:g.33780166G>A	ENSP00000261326:p.Ala274Thr	NA	Q53GP5|Q8N3A4|Q9NWM7	37	CCDS11919.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.730474	0.89390	.	.	ENSG00000075643	ENST00000261326	D	0.87491	-2.26	5.65	5.65	0.86999	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.000000	0.85682	D	0.000000	D	0.95802	0.8634	H	0.95982	3.75	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.96869	0.9638	10	0.87932	D	0	-17.3464	17.225	0.86967	0.0:0.0:1.0:0.0	.	274	Q96EN8	MOCOS_HUMAN	T	274	ENSP00000261326:A274T	ENSP00000261326:A274T	A	+	1	0	MOCOS	32034164	1.000000	0.71417	0.691000	0.30163	0.516000	0.34256	9.708000	0.98727	2.677000	0.91161	0.561000	0.74099	GCT	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255801.1		+	ENST00000261326.5	Missense_Mutation	SNP	18 : 33780166 - 33780166 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	310	14
IGHMBP2	3508	broad.mit.edu	37	11	68707097	68707097	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68707097C>A	ENST00000255078.3	+	15	2991	c.2880C>A	c.(2878-2880)tcC>tcA	p.S960S		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	960					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGAACGGATCCCTGGACCCAG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	35	35			NA	NA	11		NA											NA				68707097		2200	4294	6494	SO:0001819	synonymous_variant			L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740	3508	3508		Zinc fingers, AN1-type domain containing	5542	protein-coding gene	gene with protein product	cardiac transcription factor 1, zinc finger, AN1-type domain 7	600502			NA	8349627	Standard	NM_002180	NM_002180	NA	Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.2880C>A	11.37:g.68707097C>A		NA	A0PJD2|Q00443|Q14177	37	CCDS8187.1																																																																																			IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396862.1		+	ENST00000255078.3	Silent	SNP	11 : 68707097 - 68707097 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	201	36
OR2L2	26246	broad.mit.edu	37	1	248202496	248202496	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248202496A>G	ENST00000366479.2	+	1	1023	c.927A>G	c.(925-927)tcA>tcG	p.S309S	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AAATCTTCTCAGTGAAAATGT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	62	63			NA	NA	1		NA											NA				248202496		2203	4299	6502	SO:0001819	synonymous_variant			X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663	26246	26246		GPCR / Class A : Olfactory receptors	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12	NA	1370859	Standard	NM_001004686	NM_001004686	NA	Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.927A>G	1.37:g.248202496A>G		NA	Q2M3T5	37	CCDS31103.1																																																																																			OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096871.1		+	ENST00000366479.2	Silent	SNP	1 : 248202496 - 248202496 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	530	81
MUC5B	727897	broad.mit.edu	37	11	1265997	1265997	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1265997G>A	ENST00000529681.1	+	31	7945	c.7887G>A	c.(7885-7887)acG>acA	p.T2629T	MUC5B_ENST00000447027.1_Silent_p.T2632T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2629	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).|RTL -> LTP (in Ref. 4; CAA96577).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.T2608T(1)|p.T2629T(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGGCACGCACGCTTCCAGTGT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - coding silent(2)	lung(2)											147	178	168			NA	NA	11		NA											NA				1265997		2123	4233	6356	SO:0001819	synonymous_variant			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983	727897	727897		Mucins	7516	protein-coding gene	gene with protein product		600770	mucin 5, subtype B, tracheobronchial	MUC5	NA	9804771	Standard	XM_001126093	NM_002458	NA	Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.7887G>A	11.37:g.1265997G>A		NA	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	37	CCDS44515.2																																																																																			MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390041.2		+	ENST00000529681.1	Silent	SNP	11 : 1265997 - 1265997 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	515	96
GAD1	2571	broad.mit.edu	37	2	171675171	171675171	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171675171C>A	ENST00000358196.3	+	2	620	c.70C>A	c.(70-72)Ctg>Atg	p.L24M	GAD1_ENST00000344257.5_Missense_Mutation_p.L24M|GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000375272.1_Missense_Mutation_p.L24M	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	24					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TACCACTAACCTGCGCCCCAC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	71	70			NA	NA	2		NA											NA				171675171		2203	4300	6503	SO:0001583	missense				CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	2571	2571	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	glutamate decarboxylase 1 (brain, 67kD)	GAD	NA	1549570	Standard		XM_005246443	NA	Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.70C>A	2.37:g.171675171C>A	ENSP00000350928:p.Leu24Met	NA	Q53TQ7|Q9BU91|Q9UHH4	37	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850212	0.71719	.	.	ENSG00000128683	ENST00000454603;ENST00000445006;ENST00000358196;ENST00000375272;ENST00000344257;ENST00000455008;ENST00000456864	D;D;T;T;T;T;T	0.90504	-1.75;-2.68;2.23;0.35;0.35;-1.38;-1.23	5.67	5.67	0.87782	.	0.183599	0.39083	N	0.001470	D	0.93252	0.7850	L	0.51422	1.61	0.44825	D	0.997839	D;D	0.71674	0.997;0.998	D;D	0.69142	0.942;0.962	D	0.93093	0.6501	10	0.54805	T	0.06	-8.7481	14.9773	0.71283	0.0:0.9299:0.0:0.0701	.	24;24	Q99259;Q99259-3	DCE1_HUMAN;.	M	24	ENSP00000402366:L24M;ENSP00000394948:L24M;ENSP00000350928:L24M;ENSP00000364421:L24M;ENSP00000341167:L24M;ENSP00000405917:L24M;ENSP00000394255:L24M	ENSP00000341167:L24M	L	+	1	2	GAD1	171383417	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.625000	0.37029	2.667000	0.90743	0.561000	0.74099	CTG	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000102664.2		+	ENST00000358196.3	Missense_Mutation	SNP	2 : 171675171 - 171675171 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	630	147
SLIT2	9353	broad.mit.edu	37	4	20544182	20544182	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20544182G>T	ENST00000504154.1	+	21	2461	c.2209G>T	c.(2209-2211)Gtc>Ttc	p.V737F	SLIT2_ENST00000503823.1_Missense_Mutation_p.V729F|SLIT2_ENST00000503837.1_Missense_Mutation_p.V733F|SLIT2_ENST00000273739.5_Missense_Mutation_p.V741F|SLIT2_ENST00000509394.2_3'UTR	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	737	LRRNT 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CTTGGATACAGTCGTCCGATG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													318	296	303			NA	NA	4		NA											NA				20544182		2203	4300	6503	SO:0001583	missense			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147	9353	9353			11086	protein-coding gene	gene with protein product		603746	slit (Drosophila) homolog 2	SLIL3	NA	9813312, 18269211	Standard		XM_005248211	NA	Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2209G>T	4.37:g.20544182G>T	ENSP00000422591:p.Val737Phe	NA	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	37	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783288	0.70222	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	5.66	5.66	0.87406	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.50786	0.1636	L	0.60904	1.88	0.80722	D	1	D;D	0.89917	0.962;1.0	B;D	0.87578	0.431;0.998	T	0.47736	-0.9094	10	0.72032	D	0.01	.	19.7439	0.96243	0.0:0.0:1.0:0.0	.	729;737	O94813-3;O94813	.;SLIT2_HUMAN	F	729;737;741;733;733	ENSP00000427548:V729F;ENSP00000422591:V737F;ENSP00000273739:V741F;ENSP00000422261:V733F	ENSP00000273739:V741F	V	+	1	0	SLIT2	20153280	1.000000	0.71417	0.213000	0.23690	0.243000	0.25628	9.476000	0.97823	2.669000	0.90835	0.655000	0.94253	GTC	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250396.2		+	ENST00000504154.1	Missense_Mutation	SNP	4 : 20544182 - 20544182 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1526	295
LRRK2	120892	broad.mit.edu	37	12	40693003	40693003	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40693003A>G	ENST00000298910.7	+	25	3498	c.3440A>G	c.(3439-3441)aAc>aGc	p.N1147S	LRRK2_ENST00000343742.2_Missense_Mutation_p.N1147S	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1147					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTATCAGAGAACTTTCTTGAG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	193	188			NA	NA	12		NA											NA				40693003		2203	4300	6503	SO:0001583	missense			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906	120892	120892		Parkinson disease	18618	protein-coding gene	gene with protein product		609007	Parkinson disease (autosomal dominant) 8	PARK8	NA	15541308	Standard	XM_058513	NM_198578	NA	Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3440A>G	12.37:g.40693003A>G	ENSP00000298910:p.Asn1147Ser	NA	A6NJU2|Q6ZS50|Q8NCX9	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.523245	0.44866	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.71341	2.3;-0.56	5.29	4.15	0.48705	.	0.429907	0.26297	N	0.025193	T	0.58977	0.2160	L	0.43152	1.355	0.29182	N	0.876412	B;B	0.24675	0.006;0.109	B;B	0.27170	0.008;0.077	T	0.48293	-0.9048	10	0.09338	T	0.73	.	10.7437	0.46168	0.9253:0.0:0.0747:0.0	.	1147;1147	E9PC85;Q5S007	.;LRRK2_HUMAN	S	1147	ENSP00000341930:N1147S;ENSP00000298910:N1147S	ENSP00000298910:N1147S	N	+	2	0	LRRK2	38979270	1.000000	0.71417	0.637000	0.29366	0.990000	0.78478	5.691000	0.68249	0.846000	0.35142	0.402000	0.26972	AAC	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277179.1		+	ENST00000298910.7	Missense_Mutation	SNP	12 : 40693003 - 40693003 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	908	173
BEND7	222389	broad.mit.edu	37	10	13542030	13542030	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13542030G>T	ENST00000341083.3	-	3	336	c.40C>A	c.(40-42)Ctg>Atg	p.L14M	BEND7_ENST00000396900.2_Missense_Mutation_p.L66M|BEND7_ENST00000396898.2_Missense_Mutation_p.L66M|BEND7_ENST00000378605.3_Missense_Mutation_p.L14M	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	66							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						CTGTCGTTCAGCAATCTTCTC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	141	140			NA	NA	10		NA											NA				13542030		2203	4300	6503	SO:0001583	missense			BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626	222389	222389		BEN domain containing	23514	protein-coding gene	gene with protein product			chromosome 10 open reading frame 30	C10orf30	NA		Standard	NM_152751	NM_152751	NA	Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000341083.3:c.40C>A	10.37:g.13542030G>T	ENSP00000345773:p.Leu14Met	NA	Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	37	CCDS7099.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602344	0.66445	.	.	ENSG00000165626	ENST00000396900;ENST00000341083;ENST00000396898;ENST00000378605	T;T;T;T	0.65916	-0.18;-0.15;-0.09;-0.08	5.63	0.597	0.17504	.	0.000000	0.85682	D	0.000000	T	0.72342	0.3448	M	0.63843	1.955	0.37854	D	0.929479	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	T	0.73972	-0.3814	10	0.87932	D	0	-11.9329	10.2521	0.43375	0.3253:0.0:0.6747:0.0	.	66;14	E5RFC0;Q8N7W2-3	.;.	M	66;14;66;14	ENSP00000380108:L66M;ENSP00000345773:L14M;ENSP00000380107:L66M;ENSP00000367868:L14M	ENSP00000345773:L14M	L	-	1	2	BEND7	13582036	1.000000	0.71417	0.998000	0.56505	0.904000	0.53231	2.854000	0.48325	0.084000	0.17077	0.650000	0.86243	CTG	BEND7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046863.1		-	ENST00000341083.3	Missense_Mutation	SNP	10 : 13542030 - 13542030 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1109	207
RAD9A	5883	broad.mit.edu	37	11	67163803	67163803	+	Silent	SNP	C	C	T	rs141857815		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67163803C>T	ENST00000307980.2	+	9	897	c.804C>T	c.(802-804)acC>acT	p.T268T	RAD9A_ENST00000535644.1_3'UTR	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	268	Sufficient for interaction with ABL1.				DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			TCTCAGACACCGACTCGCACT	0.642		NA						Other conserved DNA damage response genes						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0										1,4399	2.1+/-5.4	0,1,2199	123	117	119		804	-9.3	0	11	dbSNP_134	119	0,8590		0,0,4295	no	coding-synonymous	RAD9A	NM_004584.2		0,1,6494	TT,TC,CC	NA	0.0,0.0227,0.0077		268/392	67163803	1,12989	2200	4295	6495	SO:0001819	synonymous_variant			U53174	CCDS8159.1	11q13.1-q13.2	2008-02-05	2003-07-21	2003-07-23	ENSG00000172613	ENSG00000172613	5883	5883			9827	protein-coding gene	gene with protein product		603761	RAD9 (S. pombe) homolog	RAD9	NA	8943031	Standard	NM_004584	NM_004584	NA	Approved		uc001okr.3	Q99638	OTTHUMG00000167670	ENST00000307980.2:c.804C>T	11.37:g.67163803C>T		NA	B2RCZ8|Q6FI29|Q96C41	37	CCDS8159.1																																																																																			RAD9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395481.2		+	ENST00000307980.2	Silent	SNP	11 : 67163803 - 67163803 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	886	160
KLHL23	151230	broad.mit.edu	37	2	170606212	170606212	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170606212T>A	ENST00000392647.2	+	4	1891	c.1647T>A	c.(1645-1647)tcT>tcA	p.S549S	KLHL23_ENST00000602521.1_Silent_p.S56S|KLHL23_ENST00000272797.4_Silent_p.S549S	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	549										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						CCATGCGGTCTCATGGGTGTG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													215	209	211			NA	NA	2		NA											NA				170606212		2203	4300	6503	SO:0001819	synonymous_variant			BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160	151230	151230		Kelch-like, BTB/POZ domain containing	27506	protein-coding gene	gene with protein product			kelch-like 23 (Drosophila)		NA		Standard	NM_144711	NM_144711	NA	Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.1647T>A	2.37:g.170606212T>A		NA	Q8N9B9|Q96FT8	37	CCDS2236.1																																																																																			KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255271.2		+	ENST00000392647.2	Silent	SNP	2 : 170606212 - 170606212 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1053	70
NLGN1	22871	broad.mit.edu	37	3	173996663	173996663	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:173996663G>A	ENST00000457714.1	+	6	1301	c.872G>A	c.(871-873)cGa>cAa	p.R291Q	NLGN1_ENST00000401917.3_Missense_Mutation_p.R331Q|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000545397.1_Missense_Mutation_p.R291Q|NLGN1_ENST00000361589.4_Missense_Mutation_p.R291Q	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	308					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CTTTTTCAACGAGCAATAGCT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	51	51			NA	NA	3		NA											NA				173996663		2202	4299	6501	SO:0001583	missense			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760	22871	22871			14291	protein-coding gene	gene with protein product		600568			NA	10767552, 10819331	Standard	NM_014932	NM_014932	NA	Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.872G>A	3.37:g.173996663G>A	ENSP00000392500:p.Arg291Gln	NA	Q9UPT2	37	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751325	0.89753	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	T;T;T;T;T	0.71698	0.01;0.01;-0.59;0.01;0.01	5.59	5.59	0.84812	.	0.059259	0.64402	D	0.000004	D	0.84786	0.5549	M	0.79343	2.45	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.69479	0.955;0.964	D	0.85471	0.1173	10	0.66056	D	0.02	.	19.9595	0.97236	0.0:0.0:1.0:0.0	.	331;291	D2X2H5;Q8N2Q7-2	.;.	Q	291;291;331;291;331	ENSP00000392500:R291Q;ENSP00000354541:R291Q;ENSP00000410374:R331Q;ENSP00000441108:R291Q;ENSP00000385750:R331Q	ENSP00000354541:R291Q	R	+	2	0	NLGN1	175479357	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.797000	0.96272	0.563000	0.77884	CGA	NLGN1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347054.3		+	ENST00000457714.1	Missense_Mutation	SNP	3 : 173996663 - 173996663 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	304	45
SLC6A18	348932	broad.mit.edu	37	5	1240706	1240706	+	Silent	SNP	C	C	T	rs149285920		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1240706C>T	ENST00000324642.3	+	7	1029	c.906C>T	c.(904-906)taC>taT	p.Y302Y	SLC6A18_ENST00000296821.4_Silent_p.Y297Y	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	302					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCTCCCTGTACGCGTCCATCG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4405	2.1+/-5.4	0,1,2202	203	145	165		906	-5.2	0.2	5	dbSNP_134	165	0,8600		0,0,4300	no	coding-synonymous	SLC6A18	NM_182632.2		0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077		302/629	1240706	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363	348932	348932		Solute carriers	26441	protein-coding gene	gene with protein product		610300	solute carrier family 6 (neurotransmitter transporter), member 18, solute carrier family 6, member 18		NA	19478081	Standard	NM_182632	NM_182632	NA	Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.906C>T	5.37:g.1240706C>T		NA		37	CCDS3860.1																																																																																			SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206728.3		+	ENST00000324642.3	Silent	SNP	5 : 1240706 - 1240706 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	411	95
PTCH2	8643	broad.mit.edu	37	1	45293758	45293758	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45293758G>T	ENST00000372192.3	-	14	1945	c.1815C>A	c.(1813-1815)caC>caA	p.H605Q	PTCH2_ENST00000447098.2_Missense_Mutation_p.H605Q	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	605					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TGGCTTCACAGTGGGTAAAGG	0.622		NA							Basal Cell Nevus syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	92	89			NA	NA	1		NA											NA				45293758		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425	8643	8643			9586	protein-coding gene	gene with protein product		603673	patched (Drosophila) homolog 2, patched homolog 2 (Drosophila)		NA	9811851, 9931336	Standard	NM_003738	NM_003738	NA	Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.1815C>A	1.37:g.45293758G>T	ENSP00000361266:p.His605Gln	NA	O95341|O95856|Q53Z57|Q5QP87|Q6UX14	37	CCDS516.1	.	.	.	.	.	.	.	.	.	.	G	8.907	0.957861	0.18507	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.91843	-2.92;-2.92	4.76	-0.0199	0.13958	.	0.282191	0.25587	N	0.029644	T	0.72581	0.3478	N	0.02368	-0.58	0.33946	D	0.643859	B;B	0.06786	0.001;0.001	B;B	0.14023	0.01;0.004	T	0.61936	-0.6960	10	0.15499	T	0.54	-32.9926	3.0358	0.06122	0.0915:0.3089:0.3805:0.219	.	605;605	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	Q	605	ENSP00000389703:H605Q;ENSP00000361266:H605Q	ENSP00000361266:H605Q	H	-	3	2	PTCH2	45066345	1.000000	0.71417	0.993000	0.49108	0.982000	0.71751	1.811000	0.38942	0.402000	0.25451	0.557000	0.71058	CAC	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000023428.4		-	ENST00000372192.3	Missense_Mutation	SNP	1 : 45293758 - 45293758 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	455	49
HOXC5	3222	broad.mit.edu	37	12	54426931	54426931	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54426931T>G	ENST00000312492.2	+	1	295	c.25T>G	c.(25-27)Ttc>Gtc	p.F9V	RP11-834C11.14_ENST00000512206.1_RNA|RP11-834C11.12_ENST00000513209.1_Intron|HOXC4_ENST00000303406.4_Intron	NM_018953.2	NP_061826.1	Q00444	HXC5_HUMAN	homeobox C5	9					regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						AGCCAATTCATTCTATAAGCA	0.493		NA									OREG0021884	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	60	59			NA	NA	12		NA											NA				54426931		2203	4300	6503	SO:0001583	missense				CCDS8872.1	12q13.13	2011-06-20	2005-12-22		ENSG00000172789	ENSG00000172789	3222	3222		Homeoboxes / ANTP class : HOXL subclass	5127	protein-coding gene	gene with protein product		142973	homeo box C5	HOX3D, HOX3	NA	1973146, 1358459	Standard		NM_018953	NA	Approved		uc001sew.3	Q00444	OTTHUMG00000160028	ENST00000312492.2:c.25T>G	12.37:g.54426931T>G	ENSP00000309336:p.Phe9Val	1000		37	CCDS8872.1	.	.	.	.	.	.	.	.	.	.	T	15.48	2.845311	0.51164	.	.	ENSG00000172789	ENST00000312492	D	0.91068	-2.78	5.27	5.27	0.74061	.	0.000000	0.51477	D	0.000094	D	0.88872	0.6555	M	0.76727	2.345	0.80722	D	1	P	0.47409	0.895	B	0.38056	0.264	D	0.88733	0.3238	10	0.36615	T	0.2	.	14.3258	0.66518	0.0:0.0:0.0:1.0	.	9	Q00444	HXC5_HUMAN	V	9	ENSP00000309336:F9V	ENSP00000309336:F9V	F	+	1	0	HOXC5	52713198	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.182000	0.58310	2.209000	0.71365	0.533000	0.62120	TTC	HOXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358947.1		+	ENST00000312492.2	Missense_Mutation	SNP	12 : 54426931 - 54426931 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	417	22
DIDO1	11083	broad.mit.edu	37	20	61513636	61513636	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61513636G>A	ENST00000266070.4	-	16	3997	c.3672C>T	c.(3670-3672)gaC>gaT	p.D1224D	DIDO1_ENST00000395343.1_Silent_p.D1224D	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1224					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AGGCCGGAACGTCCGCTTCTT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)							NA				0													91	100	97			NA	NA	20		NA											NA				61513636		2203	4300	6503	SO:0001819	synonymous_variant			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191	11083	11083		Zinc fingers, PHD-type	2680	protein-coding gene	gene with protein product		604140	chromosome 20 open reading frame 158, death associated transcription factor 1	C20orf158, DATF1	NA	10393935	Standard	NM_080796	NM_033081	NA	Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3672C>T	20.37:g.61513636G>A		NA	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	37	CCDS33506.1																																																																																			DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080091.2		-	ENST00000266070.4	Silent	SNP	20 : 61513636 - 61513636 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	915	190
EPPK1	83481	broad.mit.edu	37	8	144945010	144945010	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144945010C>T	ENST00000525985.1	-	2	2483	c.2412G>A	c.(2410-2412)ccG>ccA	p.P804P				P58107	EPIPL_HUMAN	epiplakin 1	804						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTCCACCAGCGGGGACTGCG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	48	46			NA	NA	8		NA											NA				144945010		2084	4201	6285	SO:0001819	synonymous_variant			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150	83481	83481			15577	protein-coding gene	gene with protein product	epidermal autoantigen 450K	607553			NA	11278896, 15671067	Standard	NM_031308	NM_031308	NA	Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.2412G>A	8.37:g.144945010C>T		NA	Q76E58	37																																																																																				EPPK1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000382675.1		-	ENST00000525985.1	Silent	SNP	8 : 144945010 - 144945010 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	26
CCDC13	152206	broad.mit.edu	37	3	42781273	42781273	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42781273C>T	ENST00000310232.6	-	9	1100	c.1017G>A	c.(1015-1017)caG>caA	p.Q339Q	CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	339										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CAAGCTCTCTCTGGAGGACAT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	129	136			NA	NA	3		NA											NA				42781273		2203	4300	6503	SO:0001819	synonymous_variant			AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607	152206	152206			26358	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_144719	NM_144719	NA	Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1017G>A	3.37:g.42781273C>T		NA		37	CCDS2705.1																																																																																			CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256652.1		-	ENST00000310232.6	Silent	SNP	3 : 42781273 - 42781273 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	512	91
DGKB	1607	broad.mit.edu	37	7	14880885	14880885	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:14880885T>G	ENST00000403951.2	-	2	423	c.4A>C	c.(4-6)Aca>Cca	p.T2P	DGKB_ENST00000444700.2_Missense_Mutation_p.T2P|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000258767.5_Missense_Mutation_p.T2P|DGKB_ENST00000402815.1_Missense_Mutation_p.T2P|DGKB_ENST00000407950.1_Missense_Mutation_p.T2P|DGKB_ENST00000406247.3_Missense_Mutation_p.T2P|DGKB_ENST00000399322.3_Missense_Mutation_p.T2P			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	2					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TCCTGGTTTGTCATGGTGGTG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	83	83			NA	NA	7		NA											NA				14880885		1883	4103	5986	SO:0001583	missense			AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	1607	1607	2.7.1.107	EF-hand domain containing	2850	protein-coding gene	gene with protein product		604070	diacylglycerol kinase, beta (90kD)	DAGK2	NA	7689223	Standard	NM_004080	NM_004080	NA	Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.4A>C	7.37:g.14880885T>G	ENSP00000385780:p.Thr2Pro	NA	A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	37	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.210761	0.58343	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247;ENST00000437998	T;T;T;T;T;T;T	0.79940	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.32	5.43	5.43	0.79202	.	0.123212	0.53938	D	0.000053	T	0.72463	0.3463	N	0.22421	0.69	0.36102	D	0.844197	P;B;P;P	0.51537	0.91;0.118;0.946;0.91	B;B;B;B	0.43680	0.245;0.095;0.427;0.245	T	0.81521	-0.0895	10	0.72032	D	0.01	.	14.5048	0.67746	0.0:0.0:0.0:1.0	.	2;2;2;2	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	P	2	ENSP00000385780:T2P;ENSP00000382260:T2P;ENSP00000258767:T2P;ENSP00000384909:T2P;ENSP00000385031:T2P;ENSP00000388451:T2P;ENSP00000386066:T2P	ENSP00000258767:T2P	T	-	1	0	DGKB	14847410	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.211000	0.65219	2.078000	0.62432	0.381000	0.24937	ACA	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326356.2		-	ENST00000403951.2	Missense_Mutation	SNP	7 : 14880885 - 14880885 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	143	26
PAQR9	344838	broad.mit.edu	37	3	142681855	142681855	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142681855G>A	ENST00000340634.3	-	1	323	c.324C>T	c.(322-324)agC>agT	p.S108S	RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	108						integral to membrane	receptor activity			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CGTCGCCGCCGCTCAGGAAGA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	83	81			NA	NA	3		NA											NA				142681855		2203	4300	6503	SO:0001819	synonymous_variant			AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582	344838	344838			30131	protein-coding gene	gene with protein product		614580			NA		Standard	NM_198504	NM_198504	NA	Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.324C>T	3.37:g.142681855G>A		NA	Q147T6	37	CCDS3128.1																																																																																			PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354538.1		-	ENST00000340634.3	Silent	SNP	3 : 142681855 - 142681855 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	242	55
REC8	9985	broad.mit.edu	37	14	24646361	24646361	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24646361G>A	ENST00000311457.3	+	9	1235	c.636G>A	c.(634-636)gaG>gaA	p.E212E	REC8_ENST00000559919.1_Silent_p.E212E			O95072	REC8_HUMAN	REC8 meiotic recombination protein	212	Glu-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		GTGAACGGGAGCTCCCAGAGG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(139;1764 2537 12868 49041)							NA				0													50	55	53			NA	NA	14		NA											NA				24646361		1884	4109	5993	SO:0001819	synonymous_variant			AF006264	CCDS41932.1	14q11.2-q12	2013-08-06	2013-08-06	2007-04-03		ENSG00000100918	9985	9985			16879	protein-coding gene	gene with protein product		608193	REC8-like 1 (yeast), REC8 homolog (yeast)	REC8L1	NA	10207075, 15935783, 12759374	Standard	NM_005132	NM_005132	NA	Approved	Rec8p, kleisin-alpha	uc001wms.3	O95072		ENST00000311457.3:c.636G>A	14.37:g.24646361G>A		NA	A8K576|D3DS62|Q658V5|Q6IA92|Q8WUV8|Q9BTF2|Q9NVQ9	37	CCDS41932.1																																																																																			REC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415889.3		+	ENST00000311457.3	Silent	SNP	14 : 24646361 - 24646361 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	396	64
TTC39C	125488	broad.mit.edu	37	18	21705488	21705488	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21705488T>A	ENST00000540918.2	+	5	723	c.473T>A	c.(472-474)tTc>tAc	p.F158Y	TTC39C_ENST00000304621.6_Missense_Mutation_p.F404Y|TTC39C_ENST00000317571.3_Missense_Mutation_p.F465Y			Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	465							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						AACTGTTCCTTCCCCAACCTG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	114	117			NA	NA	18		NA											NA				21705488		2203	4300	6503	SO:0001583	missense			AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234	125488	125488		Tetratricopeptide (TTC) repeat domain containing	26595	protein-coding gene	gene with protein product			chromosome 18 open reading frame 17	C18orf17	NA	14702039	Standard	NM_153211	NM_153211	NA	Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000540918.2:c.473T>A	18.37:g.21705488T>A	ENSP00000443016:p.Phe158Tyr	NA	B7WP63|Q0VAJ2|Q8N284	37		.	.	.	.	.	.	.	.	.	.	T	14.84	2.656275	0.47467	.	.	ENSG00000168234	ENST00000304621;ENST00000317571;ENST00000540918	T;T;T	0.42131	0.98;0.98;0.98	5.69	4.53	0.55603	.	0.494478	0.25372	N	0.031152	T	0.23492	0.0568	N	0.08118	0	0.23366	N	0.997822	B	0.25169	0.119	B	0.21708	0.036	T	0.16719	-1.0393	10	0.51188	T	0.08	2.9698	10.5536	0.45103	0.0:0.0735:0.0:0.9265	.	465	Q8N584	TT39C_HUMAN	Y	404;465;158	ENSP00000306598:F404Y;ENSP00000323645:F465Y;ENSP00000443016:F158Y	ENSP00000306598:F404Y	F	+	2	0	TTC39C	19959486	0.863000	0.29885	0.987000	0.45799	0.716000	0.41182	2.397000	0.44477	1.092000	0.41356	0.482000	0.46254	TTC	TTC39C-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000446110.2		+	ENST00000540918.2	Missense_Mutation	SNP	18 : 21705488 - 21705488 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	540	93
ARHGEF7	8874	broad.mit.edu	37	13	111953130	111953130	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111953130C>T	ENST00000218789.5	+	19	2373	c.1876C>T	c.(1876-1878)Cca>Tca	p.P626S	ARHGEF7_ENST00000375737.5_Missense_Mutation_p.P642S|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.P567S|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.P652S|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.P567S			Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	398					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			AGTTTTGCTTCCAGAAGAAGA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	96	91			NA	NA	13		NA											NA				111953130		2203	4300	6503	SO:0001583	missense			D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606	8874	8874		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	15607	protein-coding gene	gene with protein product	SH3 domain-containing proline-rich protein, PAK-interacting exchange factor beta, rho, guanine nucleotide exchange factor 7	605477			NA	9207241, 9726964	Standard	NM_001113511	NM_003899	NA	Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000218789.5:c.1876C>T	13.37:g.111953130C>T	ENSP00000218789:p.Pro626Ser	NA	B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	37		.	.	.	.	.	.	.	.	.	.	C	22.9	4.351760	0.82132	.	.	ENSG00000102606	ENST00000370623;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737	T;T;T;T;T	0.57595	0.58;0.39;0.59;0.59;0.62	5.25	5.25	0.73442	.	.	.	.	.	T	0.68952	0.3057	M	0.66939	2.045	0.80722	D	1	D	0.69078	0.997	P	0.62649	0.905	T	0.66152	-0.5995	9	0.30854	T	0.27	.	18.8414	0.92186	0.0:1.0:0.0:0.0	.	642	B7Z6G2	.	S	652;626;567;567;642	ENSP00000359657:P652S;ENSP00000218789:P626S;ENSP00000364888:P567S;ENSP00000397068:P567S;ENSP00000364889:P642S	ENSP00000218789:P626S	P	+	1	0	ARHGEF7	110751131	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.830000	0.75319	2.420000	0.82092	0.561000	0.74099	CCA	ARHGEF7-001	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000045805.3		+	ENST00000218789.5	Missense_Mutation	SNP	13 : 111953130 - 111953130 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	418	52
CLIP3	25999	broad.mit.edu	37	19	36508882	36508882	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36508882T>C	ENST00000360535.4	-	10	1422	c.1195A>G	c.(1195-1197)Acc>Gcc	p.T399A	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.T399A	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	399					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GATGATGGGGTCTTCTTCTTG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	68	68			NA	NA	19		NA											NA				36508882		2203	4300	6503	SO:0001583	missense			AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270	25999	25999		Ankyrin repeat domain containing	24314	protein-coding gene	gene with protein product	CLIP-170-related, restin-like 1	607382			NA	11854307	Standard	NM_015526	NM_015526	NA	Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.1195A>G	19.37:g.36508882T>C	ENSP00000353732:p.Thr399Ala	NA	A8K0E4|Q8WWL1|Q96C99|Q9UFT7	37	CCDS12486.1	.	.	.	.	.	.	.	.	.	.	T	6.363	0.435008	0.12045	.	.	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	T	0.71461	-0.57	4.77	0.103	0.14526	Cytoskeleton-associated protein, Gly-rich domain (1);	0.627025	0.15831	N	0.242503	T	0.40145	0.1105	N	0.08118	0	0.21802	N	0.999539	B	0.10296	0.003	B	0.06405	0.002	T	0.17531	-1.0366	10	0.11794	T	0.64	-4.0832	3.6991	0.08375	0.3297:0.0:0.4571:0.2133	.	399	Q96DZ5	CLIP3_HUMAN	A	399;281;375	ENSP00000353732:T399A	ENSP00000353732:T399A	T	-	1	0	CLIP3	41200722	0.990000	0.36364	0.132000	0.22025	0.937000	0.57800	0.774000	0.26675	-0.164000	0.10927	-0.527000	0.04329	ACC	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457426.1		-	ENST00000360535.4	Missense_Mutation	SNP	19 : 36508882 - 36508882 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	8
DMD	1756	broad.mit.edu	37	X	32827617	32827617	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:32827617A>G	ENST00000357033.4	-	7	848	c.642T>C	c.(640-642)gaT>gaC	p.D214D	DMD_ENST00000288447.4_Silent_p.D206D|DMD_ENST00000378677.2_Silent_p.D210D	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	214	Actin-binding.|CH 2.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AACCTTCAGGATCGAGTAGTT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													170	128	142			NA	NA	X		NA											NA				32827617		2202	4300	6502	SO:0001819	synonymous_variant			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947	1756	1756			2928	protein-coding gene	gene with protein product	muscular dystrophy, Duchenne and Becker types	300377	dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, mental retardation, X-linked 85	MRX85	NA	3282674, 3607877, 23900271	Standard	NM_004006	NM_004019	NA	Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.642T>C	X.37:g.32827617A>G		NA	Q02295|Q14169|Q14170|Q5JYU0|Q7KZ48|Q9UCW3|Q9UCW4	37	CCDS14233.1																																																																																			DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056182.2		-	ENST00000357033.4	Silent	SNP	X : 32827617 - 32827617 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	260	71
CREBBP	1387	broad.mit.edu	37	16	3807335	3807335	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3807335G>T	ENST00000262367.5	-	19	4461	c.3652C>A	c.(3652-3654)Ctg>Atg	p.L1218M	CREBBP_ENST00000382070.3_Missense_Mutation_p.L1180M	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1218	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ATGGTACACAGCTGCTTCCCA	0.413		NA	T, N, F, Mis, O	MLL, MORF, RUNXBP2	ALL, AML, DLBCL, B-NHL 		Rubinstein-Taybi syndrome							NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													68	59	62			NA	NA	16		NA											NA				3807335		2197	4300	6497	SO:0001583	missense			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339	1387	1387		Chromatin-modifying enzymes / K-acetyltransferases	2348	protein-coding gene	gene with protein product		600140	Rubinstein-Taybi syndrome	RSTS	NA	8413673	Standard	NM_004380	NM_001079846	NA	Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3652C>A	16.37:g.3807335G>T	ENSP00000262367:p.Leu1218Met	NA	D3DUC9|O00147|Q16376	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.328756	0.41197	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.85013	-1.93;-1.86	6.04	5.0	0.66597	Domain of unknown function DUF902, CREBbp (1);	0.000000	0.64402	D	0.000017	D	0.89649	0.6776	L	0.52573	1.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88591	0.3143	10	0.36615	T	0.2	-20.96	14.8977	0.70656	0.073:0.0:0.927:0.0	.	1248;1218	Q4LE28;Q92793	.;CBP_HUMAN	M	1218;1248;1180	ENSP00000262367:L1218M;ENSP00000371502:L1180M	ENSP00000262367:L1218M	L	-	1	2	CREBBP	3747336	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.291000	0.51764	1.405000	0.46838	0.563000	0.77884	CTG	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251591.2		-	ENST00000262367.5	Missense_Mutation	SNP	16 : 3807335 - 3807335 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	85	19
SCN5A	6331	broad.mit.edu	37	3	38622571	38622571	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38622571G>A	ENST00000455624.2	-	16	3103	c.3079C>T	c.(3079-3081)Cgg>Tgg	p.R1027W	SCN5A_ENST00000450102.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000413689.1_Missense_Mutation_p.R1027W|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1027W|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1027W|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000333535.4_Missense_Mutation_p.R1027W|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1027W			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1027			R -> Q.		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCCTCAAACCGTGTTTCCTTG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	33	32			NA	NA	3		NA											NA				38622571		1999	4159	6158	SO:0001583	missense			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873	6331	6331		Sodium channels, Voltage-gated ion channels / Sodium channels	10593	protein-coding gene	gene with protein product	long QT syndrome 3	600163	sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	CMD1E	NA	7842012, 15466643, 16382098	Standard	NM_198056	NM_198056	NA	Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000455624.2:c.3079C>T	3.37:g.38622571G>A	ENSP00000399524:p.Arg1027Trp	NA	A5H1P8|A6N922|A6N923|B2RTU0|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	37	CCDS54570.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956688	0.34565	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	5.12	1.9	0.25705	Sodium ion transport-associated (1);	1.256210	0.05875	N	0.625338	D	0.88916	0.6567	L	0.59436	1.845	0.09310	N	1	B;D;D;D;D;D;D	0.89917	0.027;0.999;1.0;1.0;1.0;0.999;1.0	B;D;D;D;D;P;D	0.81914	0.019;0.96;0.992;0.995;0.981;0.837;0.967	T	0.73116	-0.4084	10	0.72032	D	0.01	.	8.8191	0.35014	0.0748:0.0:0.4916:0.4336	.	1027;1027;1027;1027;1027;1027;1027	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	W	1027	ENSP00000398962:R1027W;ENSP00000398266:R1027W;ENSP00000410257:R1027W;ENSP00000388797:R1027W;ENSP00000397915:R1027W;ENSP00000416634:R1027W;ENSP00000328968:R1027W;ENSP00000399524:R1027W;ENSP00000403355:R1027W;ENSP00000413996:R1027W	ENSP00000328968:R1027W	R	-	1	2	SCN5A	38597575	0.000000	0.05858	0.484000	0.27391	0.419000	0.31324	0.408000	0.21065	0.529000	0.28599	0.561000	0.74099	CGG	SCN5A-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343215.2		-	ENST00000455624.2	Missense_Mutation	SNP	3 : 38622571 - 38622571 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	191	44
SH3TC1	54436	broad.mit.edu	37	4	8229864	8229864	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8229864G>T	ENST00000245105.3	+	12	2510	c.2443G>T	c.(2443-2445)Gcc>Tcc	p.A815S	SH3TC1_ENST00000539824.1_Missense_Mutation_p.A739S	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	815							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GGCAGTGGAAGCCAGTGCTAT	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(145;2298 2623 35616 37297)							NA				0													46	42	43			NA	NA	4		NA											NA				8229864		2202	4297	6499	SO:0001583	missense			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089	54436	54436		Tetratricopeptide (TTC) repeat domain containing	26009	protein-coding gene	gene with protein product					NA		Standard	NM_018986	NM_018986	NA	Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.2443G>T	4.37:g.8229864G>T	ENSP00000245105:p.Ala815Ser	NA	Q4W5G5	37	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	G	0.044	-1.273038	0.01421	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.72835	-0.69;-0.69	4.32	1.39	0.22231	Tetratricopeptide-like helical (1);	0.563940	0.18719	N	0.133078	T	0.48804	0.1520	L	0.35414	1.06	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.15549	-1.0433	10	0.19147	T	0.46	-6.7967	0.7923	0.01059	0.1778:0.2438:0.2871:0.2913	.	815	Q8TE82	S3TC1_HUMAN	S	553;815;739;644	ENSP00000245105:A815S;ENSP00000441045:A739S	ENSP00000245105:A815S	A	+	1	0	SH3TC1	8280764	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-0.279000	0.08479	0.278000	0.22164	-0.475000	0.04921	GCC	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206991.2		+	ENST00000245105.3	Missense_Mutation	SNP	4 : 8229864 - 8229864 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	216	41
HSF2BP	11077	broad.mit.edu	37	21	45064180	45064180	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45064180C>T	ENST00000291560.2	-	4	612	c.281G>A	c.(280-282)aGa>aAa	p.R94K	HSF2BP_ENST00000542962.1_Missense_Mutation_p.R19K	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	94					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		CTTCTTCTCTCTTATGTTGTC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	123	133			NA	NA	21		NA											NA				45064180		2203	4300	6503	SO:0001583	missense			AB007131	CCDS13697.1	21q22.3	2008-07-31			ENSG00000160207	ENSG00000160207	11077	11077			5226	protein-coding gene	gene with protein product	heat shock factor 2 binding protein	604554			NA	9651507	Standard	NM_007031	XM_005261090	NA	Approved		uc002zdi.3	O75031	OTTHUMG00000086863	ENST00000291560.2:c.281G>A	21.37:g.45064180C>T	ENSP00000291560:p.Arg94Lys	NA		37	CCDS13697.1	.	.	.	.	.	.	.	.	.	.	C	2.675	-0.276662	0.05679	.	.	ENSG00000160207	ENST00000291560;ENST00000542962;ENST00000443485	.	.	.	5.48	1.14	0.20703	.	0.443449	0.26832	N	0.022271	T	0.24851	0.0603	L	0.28740	0.885	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.23261	-1.0193	9	0.10377	T	0.69	-22.739	9.5457	0.39279	0.0:0.5966:0.0:0.4034	.	94	O75031	HSF2B_HUMAN	K	94;19;94	.	ENSP00000291560:R94K	R	-	2	0	HSF2BP	43888608	0.015000	0.18098	0.019000	0.16419	0.119000	0.20118	0.153000	0.16323	0.298000	0.22638	0.655000	0.94253	AGA	HSF2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195620.1		-	ENST00000291560.2	Missense_Mutation	SNP	21 : 45064180 - 45064180 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	378	32
ABHD17B	51104	broad.mit.edu	37	9	74481776	74481776	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:74481776T>G	ENST00000333421.6	-	4	905	c.794A>C	c.(793-795)aAt>aCt	p.N265T	ABHD17B_ENST00000377041.2_Missense_Mutation_p.N265T	NM_001025780.1	NP_001020951.1			abhydrolase domain containing 17B	NA											NA						TTCCACATCATTGTGACCTGC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	77	79			NA	NA	9		NA											NA				74481776		2203	4300	6503	SO:0001583	missense			AF151825	CCDS35042.1, CCDS35043.1	9q21.2	2013-03-15	2013-03-15	2013-03-15	ENSG00000107362	ENSG00000107362	51104	51104		Abhydrolase domain containing	24278	protein-coding gene	gene with protein product			chromosome 9 open reading frame 77, family with sequence similarity 108, member B1	C9orf77, FAM108B1	NA	10810093	Standard	NM_016014	XM_006717134	NA	Approved	CGI-67	uc004ail.3	Q5VST6	OTTHUMG00000020001	ENST00000333421.6:c.794A>C	9.37:g.74481776T>G	ENSP00000330222:p.Asn265Thr	NA		37	CCDS35043.1	.	.	.	.	.	.	.	.	.	.	T	18.93	3.727600	0.69074	.	.	ENSG00000107362	ENST00000377041;ENST00000333421	T;T	0.22945	1.93;1.93	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.56277	0.1974	M	0.87827	2.91	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71414	0.973;0.953	T	0.62067	-0.6932	10	0.49607	T	0.09	-0.0092	16.07	0.80919	0.0:0.0:0.0:1.0	.	265;265	Q5VST6;Q5VST6-2	F108B_HUMAN;.	T	265	ENSP00000366240:N265T;ENSP00000330222:N265T	ENSP00000330222:N265T	N	-	2	0	FAM108B1	73671596	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.920000	0.87521	2.254000	0.74563	0.533000	0.62120	AAT	ABHD17B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052625.1		-	ENST00000333421.6	Missense_Mutation	SNP	9 : 74481776 - 74481776 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	474	91
KIF20B	9585	broad.mit.edu	37	10	91498777	91498777	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91498777G>T	ENST00000371728.3	+	21	3904	c.3839G>T	c.(3838-3840)aGg>aTg	p.R1280M	KIF20B_ENST00000260753.4_Missense_Mutation_p.R1240M|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Missense_Mutation_p.R1280M|KIF20B_ENST00000416354.1_Missense_Mutation_p.R1310M	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1280					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GATCTTCAGAGGAAGGAAGAA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	101	100			NA	NA	10		NA											NA				91498777		2202	4300	6502	SO:0001583	missense			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182	9585	9585			7212	protein-coding gene	gene with protein product	cancer/testis antigen 90	605498	M-phase phosphoprotein 1	MPHOSPH1	NA	8885239, 8290587, 11470801	Standard	NM_016195	NM_016195	NA	Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.3839G>T	10.37:g.91498777G>T	ENSP00000360793:p.Arg1280Met	NA	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	37		.	.	.	.	.	.	.	.	.	.	G	18.21	3.574020	0.65765	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.80123	-1.23;-1.26;-1.34;-1.27	5.23	2.29	0.28610	.	0.213968	0.32055	N	0.006641	D	0.86285	0.5896	M	0.65498	2.005	0.41534	D	0.988475	D;D	0.89917	0.999;1.0	D;D	0.68943	0.915;0.961	D	0.85586	0.1243	10	0.72032	D	0.01	-4.1044	11.1185	0.48275	0.2074:0.0:0.7926:0.0	.	1280;1240	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	M	1240;1310;1280;1280	ENSP00000260753:R1240M;ENSP00000411545:R1310M;ENSP00000377830:R1280M;ENSP00000360793:R1280M	ENSP00000260753:R1240M	R	+	2	0	KIF20B	91488757	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	3.769000	0.55303	0.275000	0.22094	0.591000	0.81541	AGG	KIF20B-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000049330.1		+	ENST00000371728.3	Missense_Mutation	SNP	10 : 91498777 - 91498777 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	52
POLE	5426	broad.mit.edu	37	12	133244944	133244944	+	Missense_Mutation	SNP	G	G	A	rs61734163	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133244944G>A	ENST00000320574.5	-	19	2214	c.2171C>T	c.(2170-2172)gCg>gTg	p.A724V	POLE_ENST00000535270.1_Missense_Mutation_p.A697V	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	724					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GCACTCACCCGCCAGCCTTCT	0.602		NA						DNA polymerases (catalytic subunits)						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	112	106	108		2171	5.8	1	12	dbSNP_129	108	7,8593	5.7+/-21.5	0,7,4293	yes	missense	POLE	NM_006231.2	64	0,7,6496	AA,AG,GG	NA	0.0814,0.0,0.0538	benign	724/2287	133244944	7,12999	2203	4300	6503	SO:0001583	missense				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084	5426	5426		DNA polymerases	9177	protein-coding gene	gene with protein product	DNA polymerase epsilon catalytic subunit A	174762	polymerase (DNA directed), epsilon		NA	8020968	Standard	NM_006231	NM_006231	NA	Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.2171C>T	12.37:g.133244944G>A	ENSP00000322570:p.Ala724Val	NA	Q13533|Q86VH9	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075948	0.76415	0.0	8.14E-4	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.79	5.79	0.91817	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.101295	0.64402	D	0.000002	T	0.26774	0.0655	L	0.55990	1.75	0.47094	D	0.999313	P;P	0.37688	0.605;0.478	B;B	0.36666	0.147;0.23	T	0.01532	-1.1331	10	0.49607	T	0.09	.	20.212	0.98289	0.0:0.0:1.0:0.0	.	697;724	F5H1D6;Q07864	.;DPOE1_HUMAN	V	724;735;697;504;659	ENSP00000322570:A724V;ENSP00000406383:A735V;ENSP00000445753:A697V;ENSP00000442519:A504V	ENSP00000322570:A724V	A	-	2	0	POLE	131755017	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.538000	0.82048	2.780000	0.95670	0.545000	0.68477	GCG	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397689.2		-	ENST00000320574.5	Missense_Mutation	SNP	12 : 133244944 - 133244944 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	713	29
WIPF2	147179	broad.mit.edu	37	17	38412732	38412732	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38412732G>A	ENST00000323571.4	+	2	261	c.21G>A	c.(19-21)ccG>ccA	p.P7P	WIPF2_ENST00000494757.1_Intron|WIPF2_ENST00000583130.1_Silent_p.P7P|WIPF2_ENST00000536600.1_Silent_p.P7P|WIPF2_ENST00000585043.1_Silent_p.P7P|WIPF2_ENST00000394103.3_Silent_p.P7P	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	7	Poly-Pro.					cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CTCCTCCCCCGCCACCCCCAC	0.488		NA								HNSCC(43;0.11)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	98	101			NA	NA	17		NA											NA				38412732		2203	4300	6503	SO:0001819	synonymous_variant			BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475	147179	147179			30923	protein-coding gene	gene with protein product		609692			NA	12213210, 11829459	Standard	NM_133264	XM_005257083	NA	Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.21G>A	17.37:g.38412732G>A		NA	A8K0L3|Q658J8|Q71RE1|Q8TE44	37	CCDS11364.1																																																																																			WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257157.2		+	ENST00000323571.4	Silent	SNP	17 : 38412732 - 38412732 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	494	88
ZNF532	55205	broad.mit.edu	37	18	56586899	56586899	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56586899G>A	ENST00000336078.4	+	4	2156	c.1380G>A	c.(1378-1380)acG>acA	p.T460T	ZNF532_ENST00000591083.1_Silent_p.T460T|ZNF532_ENST00000589288.1_Silent_p.T460T|ZNF532_ENST00000591808.1_Silent_p.T460T|ZNF532_ENST00000591230.1_Silent_p.T460T	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CTGTGAAGACGGCAGGATCCC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001819	synonymous_variant			AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657	55205	55205		Zinc fingers, C2H2-type	30940	protein-coding gene	gene with protein product					NA	10997877	Standard	NM_018181	XM_005266723	NA	Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.1380G>A	18.37:g.56586899G>A		NA	Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	37	CCDS11969.1																																																																																			ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256130.1		+	ENST00000336078.4	Silent	SNP	18 : 56586899 - 56586899 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	214	33
DMTF1	9988	broad.mit.edu	37	7	86794362	86794362	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86794362G>T	ENST00000394703.5	+	5	668	c.105G>T	c.(103-105)caG>caT	p.Q35H	DMTF1_ENST00000394702.3_Missense_Mutation_p.Q35H|DMTF1_ENST00000331242.7_Missense_Mutation_p.Q35H|DMTF1_ENST00000432937.2_Intron|DMTF1_ENST00000411766.2_Missense_Mutation_p.Q35H|DMTF1_ENST00000413276.2_Missense_Mutation_p.Q35H|DMTF1_ENST00000414194.2_5'UTR	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	35	Interaction with CCND2 (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					ACTGCCCTCAGAATGGTAGGA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	58	64			NA	NA	7		NA											NA				86794362		2203	4300	6503	SO:0001583	missense			AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164	9988	9988			14603	protein-coding gene	gene with protein product	cyclin D-binding Myb-like protein	608491			NA	10095122, 24958102	Standard	NM_021145	NR_024549	NA	Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.105G>T	7.37:g.86794362G>T	ENSP00000378193:p.Gln35His	NA	B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	37	CCDS5601.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991491	0.74703	.	.	ENSG00000135164	ENST00000331242;ENST00000394702;ENST00000413276;ENST00000447863;ENST00000446796;ENST00000425406;ENST00000411766;ENST00000414630;ENST00000453049;ENST00000448598;ENST00000449088;ENST00000430405;ENST00000394703;ENST00000434534;ENST00000423590;ENST00000432366;ENST00000412139;ENST00000425705	T;T;T	0.51817	0.69;0.8;0.69	5.29	4.4	0.53042	.	0.224659	0.46145	N	0.000314	T	0.48892	0.1525	L	0.43152	1.355	0.80722	D	1	D	0.67145	0.996	P	0.56700	0.804	T	0.51220	-0.8733	10	0.62326	D	0.03	-2.0242	5.0045	0.14280	0.1599:0.0:0.6568:0.1833	.	35	Q9Y222	DMTF1_HUMAN	H	35	ENSP00000332171:Q35H;ENSP00000402627:Q35H;ENSP00000378193:Q35H	ENSP00000332171:Q35H	Q	+	3	2	DMTF1	86632298	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.779000	0.38624	1.354000	0.45846	0.655000	0.94253	CAG	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334025.5		+	ENST00000394703.5	Missense_Mutation	SNP	7 : 86794362 - 86794362 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	161	43
F13B	2165	broad.mit.edu	37	1	197032070	197032070	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197032070G>A	ENST00000367412.1	-	2	225	c.182C>T	c.(181-183)gCt>gTt	p.A61V		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	61	Sushi 1.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GGTATAACCAGCCAAGCAGAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	157	154			NA	NA	1		NA											NA				197032070		2203	4300	6503	SO:0001583	missense			M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278	2165	2165			3534	protein-coding gene	gene with protein product		134580			NA	2339067, 2271707	Standard	NM_001994	NM_001994	NA	Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.182C>T	1.37:g.197032070G>A	ENSP00000356382:p.Ala61Val	NA	A8K3E5|Q5VYL5	37	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.080272	0.55753	.	.	ENSG00000143278	ENST00000367412	T	0.65732	-0.17	5.58	4.67	0.58626	Complement control module (2);Sushi/SCR/CCP (2);	0.256433	0.20618	N	0.088835	T	0.56232	0.1971	L	0.52364	1.645	0.47862	D	0.999535	B	0.26400	0.148	B	0.31614	0.133	T	0.49854	-0.8895	10	0.18710	T	0.47	.	12.4304	0.55571	0.1397:0.0:0.8603:0.0	.	61	P05160	F13B_HUMAN	V	61	ENSP00000356382:A61V	ENSP00000356382:A61V	A	-	2	0	F13B	195298693	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.868000	0.48436	1.363000	0.46019	0.655000	0.94253	GCT	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088821.2		-	ENST00000367412.1	Missense_Mutation	SNP	1 : 197032070 - 197032070 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	989	93
SLC5A8	160728	broad.mit.edu	37	12	101584320	101584320	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101584320C>T	ENST00000536262.2	-	6	1317	c.759G>A	c.(757-759)tgG>tgA	p.W253*		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	253					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGATGCTGGTCCATGTGAAGG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(60;420 1056 13605 22380 47675)							NA				0													143	138	139			NA	NA	12		NA											NA				101584320		2203	4300	6503	SO:0001587	stop_gained			AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870	160728	160728		Solute carriers	19119	protein-coding gene	gene with protein product		608044	solute carrier family 5 (iodide transporter), member 8		NA	12107270, 12829793	Standard	NM_145913	NM_145913	NA	Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.759G>A	12.37:g.101584320C>T	ENSP00000445340:p.Trp253*	NA	Q2TB99|Q7Z2H9	37	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	C	41	8.821964	0.98966	.	.	ENSG00000256870	ENST00000536262	.	.	.	5.86	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3842	0.74684	0.0:0.932:0.0:0.068	.	.	.	.	X	253	.	ENSP00000445340:W253X	W	-	3	0	SLC5A8	100108451	1.000000	0.71417	1.000000	0.80357	0.455000	0.32408	5.754000	0.68743	2.774000	0.95407	0.585000	0.79938	TGG	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409401.1		-	ENST00000536262.2	Nonsense_Mutation	SNP	12 : 101584320 - 101584320 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	592	122
ZNF831	128611	broad.mit.edu	37	20	57829317	57829317	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57829317A>G	ENST00000371030.2	+	5	4553	c.4553A>G	c.(4552-4554)cAg>cGg	p.Q1518R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1518						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GACCACAGCCAGACTGCAGGG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	46	45			NA	NA	20		NA											NA				57829317		2116	4244	6360	SO:0001583	missense			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203	128611	128611			16167	protein-coding gene	gene with protein product			chromosome 20 open reading frame 174	C20orf174	NA		Standard	NM_178457	NM_178457	NA	Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4553A>G	20.37:g.57829317A>G	ENSP00000360069:p.Gln1518Arg	NA	Q5TDR4|Q8TCP0	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	A	1.075	-0.668825	0.03403	.	.	ENSG00000124203	ENST00000371030	T	0.04083	3.71	4.61	-3.4	0.04853	.	2.591440	0.01282	N	0.009769	T	0.02418	0.0074	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33497	-0.9866	10	0.05351	T	0.99	1.5943	1.4386	0.02349	0.4465:0.1546:0.258:0.1409	.	1518	Q5JPB2	ZN831_HUMAN	R	1518	ENSP00000360069:Q1518R	ENSP00000360069:Q1518R	Q	+	2	0	ZNF831	57262712	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.233000	0.09041	-0.261000	0.09405	-0.248000	0.11899	CAG	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079916.2		+	ENST00000371030.2	Missense_Mutation	SNP	20 : 57829317 - 57829317 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	225	38
LENG8	114823	broad.mit.edu	37	19	54966594	54966594	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54966594G>T	ENST00000326764.5	+	8	1352	c.873G>T	c.(871-873)caG>caT	p.Q291H	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	254							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		ACTGGCCCCAGGACATGAAAG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	60	58			NA	NA	19		NA											NA				54966594		2203	4300	6503	SO:0001583	missense			AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615	114823	114823			15500	protein-coding gene	gene with protein product					NA	10941842	Standard	NM_052925	XM_005278248	NA	Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.873G>T	19.37:g.54966594G>T	ENSP00000318374:p.Gln291His	NA	B0VJY9|Q8IZ27|Q8NCX6	37	CCDS12894.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001255	0.74818	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000439657;ENST00000376526;ENST00000431846	T;T;T;T	0.57273	1.42;0.41;1.41;1.39	5.38	3.23	0.37069	.	0.059035	0.64402	D	0.000002	T	0.63815	0.2543	M	0.63843	1.955	0.80722	D	1	P;D	0.71674	0.925;0.998	P;D	0.69479	0.735;0.964	T	0.64711	-0.6343	10	0.59425	D	0.04	-23.4433	7.9572	0.30049	0.2569:0.0:0.7431:0.0	.	291;254	Q96PV6-2;F8W9Q9	.;.	H	291;254;291;254;291	ENSP00000318374:Q291H;ENSP00000399507:Q291H;ENSP00000365709:Q254H;ENSP00000388053:Q291H	ENSP00000301196:Q254H	Q	+	3	2	LENG8	59658406	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.724000	0.47285	1.419000	0.47118	-0.136000	0.14681	CAG	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000140523.2		+	ENST00000326764.5	Missense_Mutation	SNP	19 : 54966594 - 54966594 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	387	86
MN1	4330	broad.mit.edu	37	22	28193583	28193583	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28193583G>A	ENST00000302326.4	-	1	3903	c.2949C>T	c.(2947-2949)ggC>ggT	p.G983G		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	983							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CGACGGCTGCGCCTGACGCTT	0.706		NA	T	ETV6	AML, meningioma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		L, O	0													8	11	10			NA	NA	22		NA											NA				28193583		1947	4053	6000	SO:0001819	synonymous_variant			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184	4330	4330			7180	protein-coding gene	gene with protein product	probable tumor suppressor protein MN1	156100	meningioma chromosome region	MGCR	NA	7731706, 12569362	Standard	NM_002430	NM_002430	NA	Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.2949C>T	22.37:g.28193583G>A		NA	A9Z1V9	37	CCDS42998.1																																																																																			MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320737.1		-	ENST00000302326.4	Silent	SNP	22 : 28193583 - 28193583 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	164	29
CCDC40	55036	broad.mit.edu	37	17	78032408	78032408	+	Silent	SNP	C	C	T	rs145013523	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78032408C>T	ENST00000397545.4	+	8	1302	c.1275C>T	c.(1273-1275)gcC>gcT	p.A425A	CCDC40_ENST00000374876.4_Silent_p.A425A|CCDC40_ENST00000269318.5_Silent_p.A425A|CCDC40_ENST00000374877.3_Silent_p.A425A	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	425					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TAAAGAAGGCCGAGACGGAGA	0.498		NA											C	4	0.0018	0.01	NA	2184	NA	0.9996	,	,	NA	3e-04	NA	NA	NA	0.002	0.9148	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0								C		16,4142		0,16,2063	64	69	67		1275	-9.4	0	17	dbSNP_134	67	2,8412		0,2,4205	no	coding-synonymous	CCDC40	NM_017950.3		0,18,6268	TT,TC,CC	NA	0.0238,0.3848,0.1432		425/1143	78032408	18,12554	2079	4207	6286	SO:0001819	synonymous_variant			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519	55036	55036			26090	protein-coding gene	gene with protein product		613799			NA	21131974	Standard	XM_371082	NM_017950	NA	Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1275C>T	17.37:g.78032408C>T		NA	A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	37	CCDS42395.1																																																																																			CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256005.2		+	ENST00000397545.4	Silent	SNP	17 : 78032408 - 78032408 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	33
ZADH2	284273	broad.mit.edu	37	18	72913911	72913911	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72913911G>A	ENST00000537114.2	-	2	705	c.225C>T	c.(223-225)tgC>tgT	p.C75C	ZADH2_ENST00000322342.3_Silent_p.C198C			Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	198						peroxisome	oxidoreductase activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		CAATTACATGGCACTTTGCCT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	170	167			NA	NA	18		NA											NA				72913911		2203	4300	6503	SO:0001819	synonymous_variant			BC033780	CCDS12008.1	18q22.3	2008-05-29	2008-05-29		ENSG00000180011	ENSG00000180011	284273	284273			28697	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_175907	NM_175907	NA	Approved	MGC45594	uc002llx.3	Q8N4Q0	OTTHUMG00000132858	ENST00000537114.2:c.225C>T	18.37:g.72913911G>A		NA	A8KA15	37																																																																																				ZADH2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000444910.1		-	ENST00000537114.2	Silent	SNP	18 : 72913911 - 72913911 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1544	143
TRIO	7204	broad.mit.edu	37	5	14369491	14369491	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14369491C>T	ENST00000344204.4	+	18	3099	c.3075C>T	c.(3073-3075)agC>agT	p.S1025S	TRIO_ENST00000509967.2_Silent_p.S976S|TRIO_ENST00000537187.1_Silent_p.S1025S	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1025					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGGTCTGCAGCGTCCTCGAGA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	71	70			NA	NA	5		NA											NA				14369491		2203	4300	6503	SO:0001819	synonymous_variant			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382	7204	7204		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing	12303	protein-coding gene	gene with protein product		601893	triple functional domain (PTPRF interacting)		NA	8643598	Standard	NM_007118	NM_007118	NA	Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.3075C>T	5.37:g.14369491C>T		NA	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	37	CCDS3883.1																																																																																			TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253711.2		+	ENST00000344204.4	Silent	SNP	5 : 14369491 - 14369491 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	376	56
EPS8L1	54869	broad.mit.edu	37	19	55591075	55591075	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55591075C>A	ENST00000201647.6	+	5	191	c.135C>A	c.(133-135)tgC>tgA	p.C45*	EPS8L1_ENST00000540810.1_De_novo_Start_InFrame|EPS8L1_ENST00000586329.1_Nonsense_Mutation_p.C27*|EPS8L1_ENST00000592824.1_3'UTR	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	45						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		TGACGTTCTGCCTGGGTGAGG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(149;255 1863 3636 27051 29647)							NA				0													97	76	83			NA	NA	19		NA											NA				55591075		2203	4300	6503	SO:0001587	stop_gained			AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037	54869	54869			21295	protein-coding gene	gene with protein product		614987			NA	12620401	Standard	NM_017729	NM_133180	NA	Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.135C>A	19.37:g.55591075C>A	ENSP00000201647:p.Cys45*	NA	Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	37	CCDS12914.1	.	.	.	.	.	.	.	.	.	.	C	36	5.749039	0.96882	.	.	ENSG00000131037	ENST00000310075;ENST00000201647	.	.	.	3.85	2.8	0.32819	.	0.439105	0.21813	N	0.068738	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-22.1609	5.0513	0.14511	0.2046:0.6818:0.0:0.1136	.	.	.	.	X	27;45	.	ENSP00000201647:C45X	C	+	3	2	EPS8L1	60282887	0.159000	0.22864	0.999000	0.59377	0.838000	0.47535	0.283000	0.18846	0.732000	0.32470	0.313000	0.20887	TGC	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451713.1		+	ENST00000201647.6	Nonsense_Mutation	SNP	19 : 55591075 - 55591075 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	229	35
TRPA1	8989	broad.mit.edu	37	8	72950237	72950237	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72950237G>A	ENST00000262209.4	-	20	2573	c.2366C>T	c.(2365-2367)gCg>gTg	p.A789V	RP11-383H13.1_ENST00000524152.1_Intron|TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	789						integral to plasma membrane		p.A789V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AATTTGCCCCGCTTCTTTGCA	0.274		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	stomach(1)											34	36	35			NA	NA	8		NA											NA				72950237		2196	4279	6475	SO:0001583	missense			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321	8989	8989		Voltage-gated ion channels / Transient receptor potential cation channels, Ankyrin repeat domain containing	497	protein-coding gene	gene with protein product		604775	ankyrin-like with transmembrane domains 1	ANKTM1	NA	16382100	Standard	NM_007332	NM_007332	NA	Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2366C>T	8.37:g.72950237G>A	ENSP00000262209:p.Ala789Val	NA	A6NIN6	37	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	G	0.257	-1.002122	0.02128	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.77358	-1.09;-1.09	5.58	4.36	0.52297	Ion transport (1);	0.669343	0.15878	N	0.240178	T	0.42314	0.1197	N	0.00656	-1.285	0.26743	N	0.970347	B	0.06786	0.001	B	0.04013	0.001	T	0.36720	-0.9736	10	0.06891	T	0.86	-11.0883	7.9719	0.30132	0.8368:0.0:0.1632:0.0	.	789	O75762	TRPA1_HUMAN	V	641;789	ENSP00000428151:A641V;ENSP00000262209:A789V	ENSP00000262209:A789V	A	-	2	0	TRPA1	73112791	0.855000	0.29742	0.961000	0.40146	0.539000	0.34962	3.072000	0.50049	0.938000	0.37419	-0.290000	0.09829	GCG	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379079.2		-	ENST00000262209.4	Missense_Mutation	SNP	8 : 72950237 - 72950237 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	102	9
VAV1	7409	broad.mit.edu	37	19	6828892	6828892	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6828892C>T	ENST00000304076.2	+	13	1340	c.1246C>T	c.(1246-1248)Cgg>Tgg	p.R416W	VAV1_ENST00000602142.1_Missense_Mutation_p.R416W|VAV1_ENST00000539284.1_Missense_Mutation_p.R319W|VAV1_ENST00000596764.1_Missense_Mutation_p.R384W|VAV1_ENST00000599806.1_Missense_Mutation_p.R361W	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	416	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CTCGGTGGAACGGCGCTCCAA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	46	50			NA	NA	19		NA											NA				6828892		2203	4300	6503	SO:0001583	missense				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968	7409	7409		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing, SH2 domain containing	12657	protein-coding gene	gene with protein product		164875	vav 1 oncogene	VAV	NA	9438848	Standard		NM_005428	NA	Approved		uc010xjh.2	P15498		ENST00000304076.2:c.1246C>T	19.37:g.6828892C>T	ENSP00000302269:p.Arg416Trp	NA	Q15860	37	CCDS59341.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.651623	0.67472	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	D;D	0.88586	-2.4;-2.4	5.25	-4.27	0.03744	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.188612	0.43110	D	0.000606	D	0.89178	0.6641	L	0.36672	1.1	0.37942	D	0.932369	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	P;D;D;D	0.68765	0.831;0.922;0.941;0.96	D	0.87035	0.2137	10	0.38643	T	0.18	.	16.8943	0.86096	0.8235:0.1765:0.0:0.0	.	319;416;361;416	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	W	416;319	ENSP00000302269:R416W;ENSP00000443242:R319W	ENSP00000302269:R416W	R	+	1	2	VAV1	6779892	0.969000	0.33509	0.411000	0.26484	0.687000	0.40016	0.569000	0.23638	-0.333000	0.08476	-0.238000	0.12139	CGG	VAV1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458474.1		+	ENST00000304076.2	Missense_Mutation	SNP	19 : 6828892 - 6828892 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	285	43
INTS1	26173	broad.mit.edu	37	7	1542716	1542716	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1542716C>T	ENST00000404767.3	-	3	255	c.170G>A	c.(169-171)cGc>cAc	p.R57H	INTS1_ENST00000389470.4_Missense_Mutation_p.R185H	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	57					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		ATCCCGCTTGCGCTCAGAAGG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	68	64			NA	NA	7		NA											NA				1542716		2013	4166	6179	SO:0001583	missense			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880	26173	26173			24555	protein-coding gene	gene with protein product		611345			NA	16239144	Standard		NM_001080453	NA	Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.170G>A	7.37:g.1542716C>T	ENSP00000385722:p.Arg57His	NA	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	37	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	C	34	5.379939	0.95945	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.52526	0.66;0.68	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.65863	0.2732	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.949;0.98	T	0.69989	-0.4995	10	0.87932	D	0	.	16.3381	0.83073	0.0:1.0:0.0:0.0	.	185;57	A4D212;Q8N201	.;INT1_HUMAN	H	57;185	ENSP00000385722:R57H;ENSP00000374121:R185H	ENSP00000374121:R185H	R	-	2	0	INTS1	1509242	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.190000	0.77755	2.374000	0.81015	0.563000	0.77884	CGC	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323683.1		-	ENST00000404767.3	Missense_Mutation	SNP	7 : 1542716 - 1542716 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	618	118
MAB21L1	4081	broad.mit.edu	37	13	36049967	36049967	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36049967G>A	ENST00000379919.4	-	1	865	c.309C>T	c.(307-309)agC>agT	p.S103S	NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	103					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		TGCGCCCGTCGCTCAACTTCA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	63	62			NA	NA	13		NA											NA				36049967		2203	4300	6503	SO:0001819	synonymous_variant			BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660	4081	4081			6757	protein-coding gene	gene with protein product		601280	mab-21 (C. elegans)-like 1		NA	8733127	Standard	NM_005584	NM_005584	NA	Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.309C>T	13.37:g.36049967G>A		NA	Q6I9T5	37	CCDS9353.1																																																																																			MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044459.3		-	ENST00000379919.4	Silent	SNP	13 : 36049967 - 36049967 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	434	68
NCK1	4690	broad.mit.edu	37	3	136664529	136664529	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136664529G>A	ENST00000469404.1	+	2	230	c.139G>A	c.(139-141)Gct>Act	p.A47T	NCK1_ENST00000288986.2_Missense_Mutation_p.A111T|NCK1_ENST00000481752.1_Missense_Mutation_p.A111T	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN	NCK adaptor protein 1	111	SH3 1.				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						CAACATGCCCGCTTATGTGAA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	147	147			NA	NA	3		NA											NA				136664529		2203	4300	6503	SO:0001583	missense			X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092	4690	4690		SH2 domain containing	7664	protein-coding gene	gene with protein product		600508		NCK	NA	7806213, 9737977	Standard	NM_006153	XM_005247498	NA	Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	ENST00000469404.1:c.139G>A	3.37:g.136664529G>A	ENSP00000419631:p.Ala47Thr	NA	D3DNE3	37	CCDS54644.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183921	0.78677	.	.	ENSG00000158092	ENST00000288986;ENST00000481752;ENST00000491539;ENST00000485096;ENST00000488930;ENST00000469404;ENST00000467911	T;T;T;T;T;T;T	0.40756	1.37;1.37;1.05;1.02;2.09;1.37;2.09	6.16	6.16	0.99307	Src homology-3 domain (2);	0.000000	0.85682	D	0.000000	T	0.65821	0.2728	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.992	T	0.65088	-0.6253	10	0.66056	D	0.02	-14.2769	18.3537	0.90348	0.0:0.0:1.0:0.0	.	47;111	B7Z751;P16333	.;NCK1_HUMAN	T	111;111;111;111;111;47;47	ENSP00000288986:A111T;ENSP00000417273:A111T;ENSP00000419302:A111T;ENSP00000419677:A111T;ENSP00000417729:A111T;ENSP00000419631:A47T;ENSP00000418060:A47T	ENSP00000288986:A111T	A	+	1	0	NCK1	138147219	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.367000	0.97148	2.937000	0.99478	0.650000	0.86243	GCT	NCK1-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357287.1		+	ENST00000469404.1	Missense_Mutation	SNP	3 : 136664529 - 136664529 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	592	115
GAPDHS	26330	broad.mit.edu	37	19	36029283	36029283	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36029283C>A	ENST00000222286.4	+	3	436	c.320C>A	c.(319-321)cCa>cAa	p.P107Q		NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	107					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	GTGAATGATCCATTCATTGAC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	63	72			NA	NA	19		NA											NA				36029283		2203	4300	6503	SO:0001583	missense			AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679	26330	26330			24864	protein-coding gene	gene with protein product		609169		GAPDS	NA	10714828	Standard	NM_014364	NM_014364	NA	Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		ENST00000222286.4:c.320C>A	19.37:g.36029283C>A	ENSP00000222286:p.Pro107Gln	NA	B2RC82|O60823|Q6JTT9|Q9HCU6	37	CCDS12465.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960297	0.92791	.	.	ENSG00000105679	ENST00000222286	T	0.30182	1.54	5.3	5.3	0.74995	Glyceraldehyde 3-phosphate dehydrogenase, NAD(P) binding domain (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.68979	0.3060	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80079	-0.1532	10	0.87932	D	0	-13.3742	16.4475	0.83942	0.0:1.0:0.0:0.0	.	107	O14556	G3PT_HUMAN	Q	107	ENSP00000222286:P107Q	ENSP00000222286:P107Q	P	+	2	0	GAPDHS	40721123	1.000000	0.71417	0.890000	0.34922	0.957000	0.61999	7.745000	0.85046	2.450000	0.82876	0.655000	0.94253	CCA	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460423.1		+	ENST00000222286.4	Missense_Mutation	SNP	19 : 36029283 - 36029283 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	165	27
CASKIN2	57513	broad.mit.edu	37	17	73497582	73497582	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73497582G>A	ENST00000321617.3	-	19	4071	c.3485C>T	c.(3484-3486)gCa>gTa	p.A1162V	CASKIN2_ENST00000433559.2_Missense_Mutation_p.A1080V	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	1162						cytoplasm		p.L1159_A1162del(1)		endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTCTTCTCTGCGGCTCTCAG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Deletion - In frame(1)	pancreas(1)											69	79	75			NA	NA	17		NA											NA				73497582		2194	4263	6457	SO:0001583	missense			AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303	57513	57513		Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	18200	protein-coding gene	gene with protein product		612185			NA	12040031	Standard	NM_020753	NM_020753	NA	Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.3485C>T	17.37:g.73497582G>A	ENSP00000325355:p.Ala1162Val	NA	B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	37	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645679	0.47258	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.52983	0.64;0.79	5.61	5.61	0.85477	.	0.000000	0.46442	D	0.000293	T	0.28267	0.0698	N	0.13043	0.29	0.80722	D	1	B	0.27765	0.188	B	0.29267	0.1	T	0.10894	-1.0610	10	0.06365	T	0.9	.	12.9176	0.58214	0.0741:0.0:0.9259:0.0	.	1162	Q8WXE0	CSKI2_HUMAN	V	1162;1080	ENSP00000325355:A1162V;ENSP00000406963:A1080V	ENSP00000325355:A1162V	A	-	2	0	CASKIN2	71009177	1.000000	0.71417	0.825000	0.32803	0.914000	0.54420	5.221000	0.65272	2.641000	0.89580	0.591000	0.81541	GCA	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447609.1		-	ENST00000321617.3	Missense_Mutation	SNP	17 : 73497582 - 73497582 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1084	211
EXOC5	10640	broad.mit.edu	37	14	57713495	57713495	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:57713495C>A	ENST00000413566.2	-	3	563	c.204G>T	c.(202-204)gaG>gaT	p.E68D	EXOC5_ENST00000340918.7_Missense_Mutation_p.E68D|EXOC5_ENST00000556911.1_5'UTR	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	68					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						GACATTGTTGCTCTAGTTTCT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	138	139			NA	NA	14		NA											NA				57713495		1831	4082	5913	SO:0001583	missense			U85946	CCDS45111.1	14q22.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000070367	ENSG00000070367	10640	10640			10696	protein-coding gene	gene with protein product		604469	SEC10 (S. cerevisiae)-like 1, SEC10-like 1 (S. cerevisiae)	SEC10L1	NA	9119050	Standard	NM_006544	XM_005267272	NA	Approved	SEC10, SEC10P	uc001xct.3	O00471	OTTHUMG00000171309	ENST00000413566.2:c.204G>T	14.37:g.57713495C>A	ENSP00000389934:p.Glu68Asp	NA	B2R6C5	37	CCDS45111.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945497	0.73672	.	.	ENSG00000070367	ENST00000413566;ENST00000340918;ENST00000556318	T;T	0.55588	0.69;0.51	5.17	-0.086	0.13683	.	0.000000	0.85682	D	0.000000	T	0.61009	0.2313	M	0.68317	2.08	0.21064	N	0.999797	D;D	0.63880	0.99;0.993	D;D	0.73380	0.98;0.967	T	0.57300	-0.7835	10	0.09084	T	0.74	-13.5718	10.5882	0.45294	0.0:0.5358:0.0:0.4642	.	68;68	F8W9B8;O00471	.;EXOC5_HUMAN	D	68;68;13	ENSP00000389934:E68D;ENSP00000342100:E68D	ENSP00000342100:E68D	E	-	3	2	EXOC5	56783248	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	0.963000	0.29293	0.024000	0.15214	0.650000	0.86243	GAG	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412905.1		-	ENST00000413566.2	Missense_Mutation	SNP	14 : 57713495 - 57713495 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	523	22
ZNF107	51427	broad.mit.edu	37	7	64168445	64168445	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:64168445C>A	ENST00000395391.1	+	4	3138	c.1763C>A	c.(1762-1764)gCt>gAt	p.A588D	ZNF107_ENST00000344930.3_Missense_Mutation_p.A588D|ZNF107_ENST00000423627.1_Missense_Mutation_p.A588D			Q9UII5	ZN107_HUMAN	zinc finger protein 107	588					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CATGGAAAAGCTTTTAACCTA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	52	49			NA	NA	7		NA											NA				64168445		2201	4296	6497	SO:0001583	missense			AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247	51427	51427		Zinc fingers, C2H2-type	12887	protein-coding gene	gene with protein product		603989	zinc finger protein 588, zinc finger protein 107 (Y8)	ZNF588	NA	8467795	Standard	NM_016220	NM_016220	NA	Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1763C>A	7.37:g.64168445C>A	ENSP00000378789:p.Ala588Asp	NA		37	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	14.57	2.575081	0.45902	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.17213	2.29;2.29;2.29	1.27	1.27	0.21489	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27900	0.0687	L	0.46741	1.465	0.21822	N	0.999529	D	0.69078	0.997	D	0.75020	0.985	T	0.07462	-1.0771	8	.	.	.	.	5.2825	0.15682	0.0:0.6307:0.3693:0.0	.	588	Q9UII5	ZN107_HUMAN	D	588	ENSP00000343443:A588D;ENSP00000400037:A588D;ENSP00000378789:A588D	.	A	+	2	0	ZNF107	63805880	0.000000	0.05858	0.216000	0.23742	0.459000	0.32528	0.444000	0.21661	0.635000	0.30488	0.313000	0.20887	GCT	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251593.1		+	ENST00000395391.1	Missense_Mutation	SNP	7 : 64168445 - 64168445 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	370	59
FLRT2	23768	broad.mit.edu	37	14	86088565	86088565	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:86088565C>T	ENST00000330753.4	+	2	1474	c.707C>T	c.(706-708)tCa>tTa	p.S236L	FLRT2_ENST00000554746.1_Missense_Mutation_p.S236L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	236					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AAGGAATTTTCAATTGTACGT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	86	86			NA	NA	14		NA											NA				86088565		2203	4300	6503	SO:0001583	missense			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070	23768	23768		Fibronectin type III domain containing	3761	protein-coding gene	gene with protein product		604807			NA	10644439, 16872596	Standard		XM_005267490	NA	Approved		uc001xvr.3	O43155		ENST00000330753.4:c.707C>T	14.37:g.86088565C>T	ENSP00000332879:p.Ser236Leu	NA	A0AV84|B7ZLP3	37	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989031	0.74589	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.57107	0.42;0.42	5.78	5.78	0.91487	.	0.057139	0.64402	D	0.000001	T	0.44623	0.1302	N	0.21097	0.63	0.80722	D	1	P	0.48089	0.905	B	0.43728	0.429	T	0.21484	-1.0244	10	0.19590	T	0.45	-14.9232	20.0026	0.97425	0.0:1.0:0.0:0.0	.	236	O43155	FLRT2_HUMAN	L	236	ENSP00000332879:S236L;ENSP00000451050:S236L	ENSP00000332879:S236L	S	+	2	0	FLRT2	85158318	1.000000	0.71417	0.474000	0.27266	0.730000	0.41778	7.817000	0.86213	2.722000	0.93159	0.650000	0.86243	TCA	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413193.1		+	ENST00000330753.4	Missense_Mutation	SNP	14 : 86088565 - 86088565 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	494	101
RHBDL3	162494	broad.mit.edu	37	17	30643294	30643294	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30643294C>A	ENST00000536287.1	+	6	754	c.632C>A	c.(631-633)gCt>gAt	p.A211D	RHBDL3_ENST00000538145.1_Missense_Mutation_p.A301D|RHBDL3_ENST00000269051.4_Missense_Mutation_p.A309D			P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	309					proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				CTGCGGATGGCTGTGGCCCTT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	149	149			NA	NA	17		NA											NA				30643294		2203	4300	6503	SO:0001583	missense			AJ313480	CCDS32613.1	17q11.2	2013-01-10				ENSG00000141314	162494	162494		EF-hand domain containing	16502	protein-coding gene	gene with protein product			rhomboid, veinlet-like 4 (Drosophila)	RHBDL4	NA	11900977	Standard	NM_138328	XM_006721733	NA	Approved	VRHO	uc002hhe.1	P58872		ENST00000536287.1:c.632C>A	17.37:g.30643294C>A	ENSP00000466508:p.Ala211Asp	NA	A6NMH1|Q495Y6	37		.	.	.	.	.	.	.	.	.	.	C	20.1	3.934735	0.73442	.	.	ENSG00000141314	ENST00000269051;ENST00000538145;ENST00000536287	T;T;T	0.12465	2.68;2.68;2.68	5.56	4.58	0.56647	Peptidase S54, rhomboid domain (1);	0.051784	0.85682	D	0.000000	T	0.18593	0.0446	M	0.62088	1.915	0.58432	D	0.999999	P;P	0.44380	0.834;0.834	B;B	0.44085	0.44;0.44	T	0.01105	-1.1450	10	0.62326	D	0.03	.	9.8851	0.41257	0.0:0.7871:0.1404:0.0724	.	301;309	Q495Y5;P58872	.;RHBL3_HUMAN	D	309;301;211	ENSP00000269051:A309D;ENSP00000442092:A301D;ENSP00000466508:A211D	ENSP00000269051:A309D	A	+	2	0	RHBDL3	27667407	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.499000	0.53310	1.324000	0.45282	0.563000	0.77884	GCT	RHBDL3-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000447122.2		+	ENST00000536287.1	Missense_Mutation	SNP	17 : 30643294 - 30643294 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1199	250
SSUH2	51066	broad.mit.edu	37	3	8672596	8672596	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:8672596C>T	ENST00000317371.4	-	13	1579	c.354G>A	c.(352-354)ccG>ccA	p.P118P	SSUH2_ENST00000341795.3_Silent_p.P118P|SSUH2_ENST00000415132.1_Silent_p.P118P|SSUH2_ENST00000544814.1_Silent_p.P140P					ssu-2 homolog (C. elegans)	NA											NA						CGCCTCTTTGCGGCCCATCCA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		2,4404	4.2+/-10.8	0,2,2201	72	69	70		354	-7.3	0.1	3		70	0,8600		0,0,4300	no	coding-synonymous	C3orf32	NM_015931.1		0,2,6501	TT,TC,CC	NA	0.0,0.0454,0.0154		118/354	8672596	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046	51066	51066			24809	protein-coding gene	gene with protein product			chromosome 3 open reading frame 32	C3orf32	NA	20205943	Standard	NM_015931	NM_001256748	NA	Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.354G>A	3.37:g.8672596C>T		NA		37	CCDS2568.1																																																																																			SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337900.1		-	ENST00000317371.4	Silent	SNP	3 : 8672596 - 8672596 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	318	48
KCNK6	9424	broad.mit.edu	37	19	38817849	38817849	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38817849G>T	ENST00000263372.3	+	3	855	c.748G>T	c.(748-750)Gtg>Ttg	p.V250L		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	250						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	GGTGGCCATGGTGCTGGTGCT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	49	55			NA	NA	19		NA											NA				38817849		2203	4300	6503	SO:0001583	missense			AF117708	CCDS12513.1	19q13.1	2012-03-07				ENSG00000099337	9424	9424		Potassium channels, Voltage-gated ion channels / Potassium channels, Two-P	6281	protein-coding gene	gene with protein product		603939			NA	10075682, 10393428, 16382106	Standard	NM_004823	NM_004823	NA	Approved	K2p6.1, TWIK-2	uc002oic.3	Q9Y257		ENST00000263372.3:c.748G>T	19.37:g.38817849G>T	ENSP00000263372:p.Val250Leu	NA	Q9HB47	37	CCDS12513.1	.	.	.	.	.	.	.	.	.	.	G	5.208	0.223951	0.09863	.	.	ENSG00000099337	ENST00000263372	T	0.27557	1.66	5.44	2.1	0.27182	Ion transport 2 (1);	0.377738	0.29868	N	0.010997	T	0.12646	0.0307	N	0.12961	0.28	0.31977	N	0.606432	B	0.12013	0.005	B	0.16289	0.015	T	0.28586	-1.0039	10	0.07644	T	0.81	.	4.5908	0.12306	0.2784:0.16:0.5616:0.0	.	250	Q9Y257	KCNK6_HUMAN	L	250	ENSP00000263372:V250L	ENSP00000263372:V250L	V	+	1	0	KCNK6	43509689	0.999000	0.42202	1.000000	0.80357	0.956000	0.61745	0.570000	0.23653	0.246000	0.21394	0.555000	0.69702	GTG	KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460524.1		+	ENST00000263372.3	Missense_Mutation	SNP	19 : 38817849 - 38817849 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	399	42
NPC1L1	29881	broad.mit.edu	37	7	44579675	44579675	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44579675C>A	ENST00000423141.1	-	2	376	c.321G>T	c.(319-321)aaG>aaT	p.K107N	NPC1L1_ENST00000381160.3_Missense_Mutation_p.K107N|NPC1L1_ENST00000289547.4_Missense_Mutation_p.K107N|NPC1L1_ENST00000546276.1_Missense_Mutation_p.K107N			Q9UHC9	NPCL1_HUMAN	NPC1-like 1	107					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TGAGGAGGGCCTTGGTGATCG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	74	77			NA	NA	7		NA											NA				44579675		2203	4300	6503	SO:0001583	missense				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520	29881	29881			7898	protein-coding gene	gene with protein product		608010	NPC1 (Niemann-Pick disease, type C1, gene)-like 1		NA	10783261	Standard	NM_013389	NM_013389	NA	Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000423141.1:c.321G>T	7.37:g.44579675C>A	ENSP00000404670:p.Lys107Asn	NA	A4D2J7|Q6R3Q4|Q9UHC8	37		.	.	.	.	.	.	.	.	.	.	c	9.686	1.150677	0.21371	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62	4.9	4.01	0.46588	.	0.055764	0.64402	D	0.000002	D	0.91236	0.7238	L	0.48218	1.51	0.42876	D	0.994154	D;D;P;D	0.89917	0.959;1.0;0.867;0.999	P;D;B;P	0.87578	0.463;0.998;0.348;0.904	D	0.87513	0.2441	10	0.17832	T	0.49	-33.0028	7.9746	0.30147	0.0:0.8104:0.0:0.1896	.	107;107;107;107	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	N	107	ENSP00000289547:K107N;ENSP00000370552:K107N;ENSP00000438033:K107N;ENSP00000404670:K107N	ENSP00000289547:K107N	K	-	3	2	NPC1L1	44546200	0.961000	0.32948	1.000000	0.80357	0.655000	0.38815	0.323000	0.19593	2.262000	0.75019	0.555000	0.69702	AAG	NPC1L1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000339389.1		-	ENST00000423141.1	Missense_Mutation	SNP	7 : 44579675 - 44579675 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	333	41
SIRPB2	284759	broad.mit.edu	37	20	1460374	1460374	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1460374G>A	ENST00000359801.3	-	2	458	c.422C>T	c.(421-423)tCg>tTg	p.S141L	SIRPB2_ENST00000608747.1_Intron|SIRPB2_ENST00000537284.1_Missense_Mutation_p.S3L|SIRPB2_ENST00000444444.2_Intron	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	141	Ig-like V-type 1.					integral to membrane		p.S240L(1)|p.S141L(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCCTTCATCCGATTTCATTTC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	large_intestine(2)						G	LEU/SER,	2,3134		0,2,1566	181	156	164		422,	-0.9	0	20		164	0,7164		0,0,3582	no	missense,intron	SIRPB2	NM_001122962.1,NM_001134836.1	145,	0,2,5148	AA,AG,GG	NA	0.0,0.0638,0.0194	benign,	141/343,	1460374	2,10298	1568	3582	5150	SO:0001583	missense			AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209	284759	284759		Signal-regulatory proteins, Immunoglobulin superfamily / V-set domain containing	16247	protein-coding gene	gene with protein product			protein tyrosine phosphatase, non-receptor type 1-like, protein tyrosine phosphatase, non-receptor type substrate 1-like 3	PTPN1L, PTPNS1L3	NA	16339511	Standard	NM_178459	NM_001122962	NA	Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.422C>T	20.37:g.1460374G>A	ENSP00000352849:p.Ser141Leu	NA	Q6TCH9	37	CCDS42849.1	.	.	.	.	.	.	.	.	.	.	G	5.872	0.344962	0.11126	6.38E-4	0.0	ENSG00000196209	ENST00000359801;ENST00000537284	T;T	0.39406	1.08;4.32	4.03	-0.905	0.10527	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	2.051780	0.02728	N	0.114791	T	0.17152	0.0412	N	0.01874	-0.695	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.18808	-1.0325	10	0.11485	T	0.65	-16.8466	7.1865	0.25803	0.55:0.0:0.45:0.0	.	3;141	F5H204;Q5JXA9	.;SIRB2_HUMAN	L	141;3	ENSP00000352849:S141L;ENSP00000445632:S3L	ENSP00000352849:S141L	S	-	2	0	SIRPB2	1408374	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	1.125000	0.31332	-0.048000	0.13401	-0.140000	0.14226	TCG	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077544.1		-	ENST00000359801.3	Missense_Mutation	SNP	20 : 1460374 - 1460374 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	786	36
OR5R1	219479	broad.mit.edu	37	11	56185131	56185131	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56185131T>G	ENST00000312253.1	-	1	577	c.578A>C	c.(577-579)cAc>cCc	p.H193P		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TTCCTTCATGTGTGTGTCTGA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	84	89			NA	NA	11		NA											NA				56185131		2201	4295	6496	SO:0001583	missense			AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942	219479	219479		GPCR / Class A : Olfactory receptors	14841	protein-coding gene	gene with protein product				OR5R1P	NA		Standard	NM_001004744	NM_001004744	NA	Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.578A>C	11.37:g.56185131T>G	ENSP00000308595:p.His193Pro	NA		37	CCDS31530.1	.	.	.	.	.	.	.	.	.	.	T	15.41	2.823943	0.50739	.	.	ENSG00000174942	ENST00000312253	T	0.00123	8.7	5.72	0.771	0.18504	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00271	0.0008	M	0.63843	1.955	0.09310	N	1	P	0.50272	0.933	P	0.53313	0.723	T	0.46938	-0.9155	9	0.66056	D	0.02	-5.8915	9.1469	0.36939	0.0:0.403:0.0:0.597	.	193	Q8NH85	OR5R1_HUMAN	P	193	ENSP00000308595:H193P	ENSP00000308595:H193P	H	-	2	0	OR5R1	55941707	0.000000	0.05858	0.021000	0.16686	0.985000	0.73830	-1.065000	0.03458	0.096000	0.17463	0.472000	0.43445	CAC	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334444.1		-	ENST00000312253.1	Missense_Mutation	SNP	11 : 56185131 - 56185131 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	375	84
IL21	59067	broad.mit.edu	37	4	123542063	123542063	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123542063T>C	ENST00000264497.3	-	1	161	c.104A>G	c.(103-105)cAc>cGc	p.H35R	IL21-AS1_ENST00000417927.1_RNA	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	28					cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						TCTAATCATGTGGCGATCTTG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	131	133			NA	NA	4		NA											NA				123542063		2203	4300	6503	SO:0001583	missense			AF254069	CCDS3727.1, CCDS75189.1	4q26-q27	2011-07-15			ENSG00000138684	ENSG00000138684	59067	59067		Interleukins and interleukin receptors	6005	protein-coding gene	gene with protein product		605384			NA	11081504, 17947662	Standard	NM_021803	NM_001207006	NA	Approved	Za11, IL-21	uc003ies.3	Q9HBE4	OTTHUMG00000133073	ENST00000264497.3:c.104A>G	4.37:g.123542063T>C	ENSP00000264497:p.His35Arg	NA	A5J0L4	37	CCDS3727.1	.	.	.	.	.	.	.	.	.	.	T	10.23	1.292013	0.23564	.	.	ENSG00000138684	ENST00000264497	.	.	.	5.63	-1.7	0.08159	.	1.503550	0.03896	N	0.279500	T	0.16214	0.0390	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.13072	-1.0523	9	0.23302	T	0.38	0.9318	1.9273	0.03319	0.3357:0.2071:0.0705:0.3867	.	28;28	Q9HBE4-2;Q9HBE4	.;IL21_HUMAN	R	35	.	ENSP00000264497:H35R	H	-	2	0	IL21	123761513	0.008000	0.16893	0.794000	0.32065	0.895000	0.52256	0.074000	0.14662	0.048000	0.15891	-0.339000	0.08088	CAC	IL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256713.1		-	ENST00000264497.3	Missense_Mutation	SNP	4 : 123542063 - 123542063 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	360	10
DENND4B	9909	broad.mit.edu	37	1	153909116	153909116	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153909116C>T	ENST00000361217.4	-	16	2759	c.2341G>A	c.(2341-2343)Gcc>Acc	p.A781T		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	781										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CGCACATAGGCAGGCAGACAC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	48	47			NA	NA	1		NA											NA				153909116		2130	4229	6359	SO:0001583	missense			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837	9909	9909		DENN/MADD domain containing	29044	protein-coding gene	gene with protein product			KIAA0476	KIAA0476	NA	9455484, 12906859	Standard	XM_375806	NM_014856	NA	Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2341G>A	1.37:g.153909116C>T	ENSP00000354597:p.Ala781Thr	NA	Q5T4K0	37	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	c	14.49	2.551604	0.45487	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.07021	3.24;3.23	4.77	4.77	0.60923	.	0.060224	0.64402	D	0.000002	T	0.01870	0.0059	N	0.13299	0.325	0.37388	D	0.912324	B	0.17852	0.024	B	0.11329	0.006	T	0.40608	-0.9554	10	0.38643	T	0.18	-17.5058	7.0873	0.25264	0.0:0.8157:0.0:0.1843	.	781	O75064	DEN4B_HUMAN	T	781;792	ENSP00000354597:A781T;ENSP00000357635:A792T	ENSP00000354597:A781T	A	-	1	0	DENND4B	152175740	0.181000	0.23161	0.905000	0.35620	0.600000	0.36913	0.651000	0.24873	2.463000	0.83235	0.462000	0.41574	GCC	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090278.2		-	ENST00000361217.4	Missense_Mutation	SNP	1 : 153909116 - 153909116 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	220	71
KLK13	26085	broad.mit.edu	37	19	51563271	51563271	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51563271T>C	ENST00000595793.1	-	3	361	c.319A>G	c.(319-321)Atc>Gtc	p.I107V	KLK13_ENST00000595547.1_Intron|KLK13_ENST00000335422.3_Intron|KLK13_ENST00000596955.1_Missense_Mutation_p.I107V	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	107	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GGGTGGGGGATAGAGTGGACA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	88	88			NA	NA	19		NA											NA				51563271		2203	4300	6503	SO:0001583	missense				CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759	26085	26085		Kallikreins	6361	protein-coding gene	gene with protein product		605505	kallikrein 13		NA	16800724, 16800723	Standard	NM_015596	NM_015596	NA	Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.319A>G	19.37:g.51563271T>C	ENSP00000470555:p.Ile107Val	NA	A7UNK6|Q9Y433	37	CCDS12822.1	.	.	.	.	.	.	.	.	.	.	T	0.354	-0.942973	0.02322	.	.	ENSG00000167759	ENST00000156476	.	.	.	3.76	0.519	0.17035	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.285942	0.25006	N	0.033862	T	0.40094	0.1103	L	0.34521	1.04	0.37140	D	0.901665	B;B	0.06786	0.001;0.0	B;B	0.12837	0.008;0.008	T	0.21655	-1.0239	9	0.49607	T	0.09	.	5.6968	0.17861	0.0:0.3757:0.0:0.6243	.	107;107	B5BUM9;Q9UKR3	.;KLK13_HUMAN	V	107	.	ENSP00000156476:I107V	I	-	1	0	KLK13	56255083	0.000000	0.05858	0.741000	0.31004	0.001000	0.01503	-0.831000	0.04405	0.169000	0.19679	-0.280000	0.10049	ATC	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464298.2		-	ENST00000595793.1	Missense_Mutation	SNP	19 : 51563271 - 51563271 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	492	70
MAP3K2	10746	broad.mit.edu	37	2	128065219	128065219	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128065219A>G	ENST00000409947.1	-	17	2078	c.1796T>C	c.(1795-1797)gTa>gCa	p.V599A	MAP3K2_ENST00000344908.5_Missense_Mutation_p.V599A			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	599	Protein kinase.				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		TTTGGCCTCTACAAAAATCCG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	62	62			NA	NA	2		NA											NA				128065219		2035	4203	6238	SO:0001583	missense			AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967	10746	10746		Mitogen-activated protein kinase cascade / Kinase kinase kinases	6854	protein-coding gene	gene with protein product	MAP/ERK kinase kinase 2	609487		MEKK2	NA	8621389, 10085062	Standard	NM_006609	NM_006609	NA	Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.1796T>C	2.37:g.128065219A>G	ENSP00000387246:p.Val599Ala	NA	B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	37	CCDS46404.1	.	.	.	.	.	.	.	.	.	.	A	14.94	2.683960	0.47991	.	.	ENSG00000169967	ENST00000409947;ENST00000344908	T;T	0.63744	-0.06;-0.06	5.7	4.55	0.56014	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.106321	0.64402	D	0.000006	T	0.49745	0.1575	L	0.42008	1.315	0.39428	D	0.967031	B	0.15473	0.013	B	0.16722	0.016	T	0.40590	-0.9555	10	0.13108	T	0.6	.	9.7683	0.40574	0.8608:0.0:0.1392:0.0	.	599	Q9Y2U5	M3K2_HUMAN	A	599	ENSP00000387246:V599A;ENSP00000343463:V599A	ENSP00000343463:V599A	V	-	2	0	MAP3K2	127781689	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.321000	0.65846	1.091000	0.41335	0.528000	0.53228	GTA	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331014.1		-	ENST00000409947.1	Missense_Mutation	SNP	2 : 128065219 - 128065219 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	55	11
CYP1A2	1544	broad.mit.edu	37	15	75044545	75044545	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75044545A>G	ENST00000343932.4	+	5	1186	c.1123A>G	c.(1123-1125)Acc>Gcc	p.T375A		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	375					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CATCCTGGAGACCTTCCGACA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	158	159			NA	NA	15		NA											NA				75044545		2197	4296	6493	SO:0001583	missense			AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1544	1544	1.14.14.1	Cytochrome P450s	2596	protein-coding gene	gene with protein product		124060	cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2		NA	15128046	Standard	NM_000761	NM_000761	NA	Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.1123A>G	15.37:g.75044545A>G	ENSP00000342007:p.Thr375Ala	NA	Q16754|Q6NWU5|Q9BXX7|Q9UK49	37	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	A	13.58	2.280759	0.40294	.	.	ENSG00000140505	ENST00000343932	T	0.71222	-0.55	4.89	-0.271	0.12922	.	1.610040	0.03174	N	0.171130	T	0.67599	0.2910	M	0.68593	2.085	0.09310	N	0.999995	B	0.06786	0.001	B	0.08055	0.003	T	0.46527	-0.9185	10	0.46703	T	0.11	.	5.8288	0.18568	0.4669:0.2617:0.2714:0.0	.	375	P05177-2	.	A	375	ENSP00000342007:T375A	ENSP00000342007:T375A	T	+	1	0	CYP1A2	72831598	0.048000	0.20356	0.690000	0.30148	0.986000	0.74619	0.048000	0.14078	-0.203000	0.10251	0.370000	0.22315	ACC	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421263.2		+	ENST00000343932.4	Missense_Mutation	SNP	15 : 75044545 - 75044545 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1071	33
ECT2	1894	broad.mit.edu	37	3	172504322	172504322	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:172504322G>A	ENST00000417960.1	+	18	2246	c.1769G>A	c.(1768-1770)aGc>aAc	p.S590N	ECT2_ENST00000540509.1_Missense_Mutation_p.S622N|ECT2_ENST00000392692.3_Missense_Mutation_p.S622N|ECT2_ENST00000427830.1_Missense_Mutation_p.S591N|ECT2_ENST00000232458.5_Missense_Mutation_p.S591N|ECT2_ENST00000441497.2_Missense_Mutation_p.S591N	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	591	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			CCAGACAAAAGCACTTTAGAA	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	72	72			NA	NA	3		NA											NA				172504322		2202	4294	6496	SO:0001583	missense			AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346	1894	1894		Rho guanine nucleotide exchange factors	3155	protein-coding gene	gene with protein product		600586	epithelial cell transforming sequence 2 oncogene		NA	8464478, 10579713	Standard	NM_018098	NM_018098	NA	Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000417960.1:c.1769G>A	3.37:g.172504322G>A	ENSP00000415876:p.Ser590Asn	NA	Q2M269|Q9NSV8|Q9NVW9	37		.	.	.	.	.	.	.	.	.	.	G	10.14	1.268507	0.23136	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.95	0.592	0.17471	Dbl homology (DH) domain (2);	0.292888	0.43110	N	0.000613	T	0.33789	0.0875	N	0.17345	0.48	0.27977	N	0.936193	B;B;B;B;B	0.11235	0.0;0.001;0.002;0.004;0.001	B;B;B;B;B	0.10450	0.002;0.003;0.005;0.005;0.003	T	0.03818	-1.1001	10	0.19147	T	0.46	-3.4038	0.7728	0.01027	0.3007:0.1087:0.3432:0.2474	.	622;67;622;591;590	Q9H8V3;Q96SJ9;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.;.	N	591;622;591;590;591;622	ENSP00000232458:S591N;ENSP00000376457:S622N;ENSP00000401910:S591N;ENSP00000415876:S590N;ENSP00000412259:S591N;ENSP00000443160:S622N	ENSP00000232458:S591N	S	+	2	0	ECT2	173987016	0.832000	0.29368	1.000000	0.80357	0.992000	0.81027	0.481000	0.22260	0.432000	0.26286	-0.145000	0.13849	AGC	ECT2-004	NOVEL	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000345995.3		+	ENST00000417960.1	Missense_Mutation	SNP	3 : 172504322 - 172504322 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	169	24
GGT5	2687	broad.mit.edu	37	22	24622171	24622171	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24622171G>A	ENST00000327365.4	-	8	1518	c.1102C>T	c.(1102-1104)Cgg>Tgg	p.R368W	GGT5_ENST00000398292.3_Missense_Mutation_p.R368W|GGT5_ENST00000418439.2_Missense_Mutation_p.R291W|GGT5_ENST00000263112.7_Missense_Mutation_p.R336W	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	368					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						TGGTCCCCCCGGCCATCGATC	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG,TRP/ARG,TRP/ARG	0,4404		0,0,2202	28	32	31		1102,1006,1102	1	0.4	22		31	1,8597		0,1,4298	no	missense,missense,missense	GGT5	NM_001099781.1,NM_001099782.1,NM_004121.2	101,101,101	0,1,6500	AA,AG,GG	NA	0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	368/588,336/555,368/587	24622171	1,13001	2202	4299	6501	SO:0001583	missense			M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998	2687	2687		Gamma-glutamyltransferases	4260	protein-coding gene	gene with protein product		137168	gamma-glutamyltransferase-like activity 1	GGTLA1	NA	1676842, 8095916, 18357469	Standard	NM_004121	NM_004121	NA	Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.1102C>T	22.37:g.24622171G>A	ENSP00000330080:p.Arg368Trp	NA	Q96FC1|Q9UFM5	37	CCDS13825.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243894	0.22796	0.0	1.16E-4	ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292;ENST00000418439	T;T;T;T	0.07114	3.22;3.22;3.22;3.22	4.51	1.02	0.19986	.	0.320649	0.34362	N	0.004035	T	0.10766	0.0263	L	0.60455	1.87	0.20307	N	0.999911	D;P;P;P;P	0.59357	0.985;0.588;0.64;0.825;0.64	P;B;B;B;B	0.49477	0.612;0.14;0.219;0.148;0.219	T	0.13072	-1.0523	10	0.66056	D	0.02	-26.0215	3.4169	0.07378	0.1824:0.0:0.4362:0.3814	.	291;336;368;368;368	E7EUG3;P36269-2;Q53XM9;Q6GMP0;P36269	.;.;.;.;GGT5_HUMAN	W	368;336;283;368;291	ENSP00000330080:R368W;ENSP00000263112:R336W;ENSP00000381340:R368W;ENSP00000392146:R291W	ENSP00000263112:R336W	R	-	1	2	GGT5	22952171	0.006000	0.16342	0.450000	0.26969	0.390000	0.30446	0.915000	0.28638	0.421000	0.25980	-0.515000	0.04445	CGG	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320119.1		-	ENST00000327365.4	Missense_Mutation	SNP	22 : 24622171 - 24622171 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	302	45
TSKS	60385	broad.mit.edu	37	19	50249836	50249836	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50249836G>A	ENST00000246801.3	-	6	965	c.883C>T	c.(883-885)Cca>Tca	p.P295S	TSKS_ENST00000358830.3_Missense_Mutation_p.P95S	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	295							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		AGGCCGTGTGGCCGCGAGGGT	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	24	23			NA	NA	19		NA											NA				50249836		2197	4291	6488	SO:0001583	missense			BC058862	CCDS12780.1	19q13.3	2014-06-13					60385	60385			30719	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 161	608253			NA	11444856, 18495105	Standard	NM_021733	NM_021733	NA	Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.883C>T	19.37:g.50249836G>A	ENSP00000246801:p.Pro295Ser	NA	Q8WXJ0	37	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	G	9.932	1.215193	0.22373	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.33865	1.39;1.39	4.87	1.49	0.22878	.	1.157390	0.06486	N	0.733790	T	0.20780	0.0500	L	0.27053	0.805	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.25916	-1.0118	10	0.05833	T	0.94	-6.5428	4.5318	0.12008	0.1991:0.1842:0.6167:0.0	.	295	Q9UJT2	TSKS_HUMAN	S	295;95	ENSP00000246801:P295S;ENSP00000351691:P95S	ENSP00000246801:P295S	P	-	1	0	TSKS	54941648	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.592000	0.23984	0.228000	0.21019	-0.136000	0.14681	CCA	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465795.1		-	ENST00000246801.3	Missense_Mutation	SNP	19 : 50249836 - 50249836 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	388	70
ITLN1	55600	broad.mit.edu	37	1	160851893	160851893	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160851893C>T	ENST00000326245.3	-	4	374	c.259G>A	c.(259-261)Gag>Aag	p.E87K		NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	87	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ATGTCATTCTCGTGCACGCTG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	89	94			NA	NA	1		NA											NA				160851893		2203	4300	6503	SO:0001583	missense			AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914	55600	55600			18259	protein-coding gene	gene with protein product		609873			NA	11313366, 11181563	Standard	NM_017625	NM_017625	NA	Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.259G>A	1.37:g.160851893C>T	ENSP00000323587:p.Glu87Lys	NA	Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	37	CCDS1211.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212354	0.79240	.	.	ENSG00000179914	ENST00000326245	T	0.24538	1.85	4.17	4.17	0.49024	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (3);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.64402	D	0.000007	T	0.47857	0.1468	M	0.86502	2.82	0.52501	D	0.999951	D	0.89917	1.0	D	0.91635	0.999	T	0.58165	-0.7684	10	0.87932	D	0	-19.0439	14.0049	0.64456	0.0:1.0:0.0:0.0	.	87	Q8WWA0	ITLN1_HUMAN	K	87	ENSP00000323587:E87K	ENSP00000323587:E87K	E	-	1	0	ITLN1	159118517	0.997000	0.39634	0.461000	0.27105	0.603000	0.37013	3.878000	0.56130	2.129000	0.65627	0.655000	0.94253	GAG	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071462.1		-	ENST00000326245.3	Missense_Mutation	SNP	1 : 160851893 - 160851893 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	458	120
ZNF354A	6940	broad.mit.edu	37	5	178139061	178139061	+	Nonstop_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178139061C>A	ENST00000335815.2	-	5	2015	c.1818G>T	c.(1816-1818)taG>taT	p.*606Y		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	0					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		AATCTACTTTCTAGGGGTCCT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	62	61			NA	NA	5		NA											NA				178139061		2202	4298	6500	SO:0001578	stop_lost			AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131	6940	6940		Zinc fingers, C2H2-type, -	11628	protein-coding gene	gene with protein product		602444		TCF17	NA	9465904	Standard	NM_005649	NM_005649	NA	Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.1818G>T	5.37:g.178139061C>A		NA	Q9UNJ8	37	CCDS4438.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.017445	0.00418	.	.	ENSG00000169131	ENST00000335815	.	.	.	4.28	1.24	0.21308	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6622	0.17674	0.0:0.6309:0.1647:0.2043	.	.	.	.	Y	606	.	.	X	-	3	2	ZNF354A	178071667	.	.	0.380000	0.26093	0.014000	0.08584	.	.	0.542000	0.28846	-0.122000	0.15005	TAG	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253481.1		-	ENST00000335815.2	Nonstop_Mutation	SNP	5 : 178139061 - 178139061 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	378	67
FCGBP	8857	broad.mit.edu	37	19	40408716	40408716	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40408716G>A	ENST00000221347.6	-	8	4130	c.4123C>T	c.(4123-4125)Cgg>Tgg	p.R1375W		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1375	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACGGTGACCCGCACATAGTAC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	93	98			NA	NA	19		NA											NA				40408716		2203	4300	6503	SO:0001583	missense			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395	8857	8857			13572	protein-coding gene	gene with protein product	IgG Fc binding protein, Human Fc gamma BP				NA	9182547	Standard	NM_003890	NM_003890	NA	Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.4123C>T	19.37:g.40408716G>A	ENSP00000221347:p.Arg1375Trp	NA	O95784	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073992	0.36566	.	.	ENSG00000090920	ENST00000221347	T	0.59906	0.23	4.91	1.21	0.21127	von Willebrand factor, type D domain (3);	0.310015	0.25291	N	0.031721	T	0.43831	0.1265	L	0.60067	1.865	0.27621	N	0.94833	B	0.30851	0.297	B	0.25140	0.058	T	0.35051	-0.9804	10	0.45353	T	0.12	.	3.2293	0.06742	0.0867:0.1356:0.3748:0.403	.	1375	Q9Y6R7	FCGBP_HUMAN	W	1375	ENSP00000221347:R1375W	ENSP00000221347:R1375W	R	-	1	2	FCGBP	45100556	0.000000	0.05858	0.992000	0.48379	0.492000	0.33523	-0.080000	0.11339	0.460000	0.27045	0.644000	0.83932	CGG	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462507.1		-	ENST00000221347.6	Missense_Mutation	SNP	19 : 40408716 - 40408716 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	480	46
TDP2	51567	broad.mit.edu	37	6	24651141	24651141	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24651141C>T	ENST00000341060.3	-	6	1185	c.790G>A	c.(790-792)Gca>Aca	p.A264T	TDP2_ENST00000545995.1_Missense_Mutation_p.A352T|TDP2_ENST00000378198.4_Missense_Mutation_p.A322T			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	322					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						TCTGCTGCTGCTCTGAAAAAT	0.403		NA						Direct reversal of damage						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	91	92			NA	NA	6		NA											NA				24651141		2203	4300	6503	SO:0001583	missense			AJ269473	CCDS4557.1	6p22.3-p22.1	2010-05-07	2010-05-07	2010-05-07	ENSG00000111802	ENSG00000111802	51567	51567	3.1.4.-		17768	protein-coding gene	gene with protein product		605764	TRAF and TNF receptor associated protein	TTRAP	NA	11478795	Standard		NM_016614	NA	Approved		uc003nej.3	O95551	OTTHUMG00000014360	ENST00000341060.3:c.790G>A	6.37:g.24651141C>T	ENSP00000345345:p.Ala264Thr	NA	B4DKL8|B4DQ95|Q2TBE2|Q5JYM0|Q7Z6U5|Q9NUK5|Q9NYY9	37		.	.	.	.	.	.	.	.	.	.	C	12.59	1.984956	0.35036	.	.	ENSG00000111802	ENST00000378198;ENST00000545995;ENST00000545780;ENST00000341060	T;T;T	0.21734	1.99;1.99;1.99	5.46	1.1	0.20463	Endonuclease/exonuclease/phosphatase (2);	0.225345	0.46758	N	0.000261	T	0.03959	0.0111	L	0.33485	1.01	0.30381	N	0.781984	B	0.14805	0.011	B	0.17433	0.018	T	0.44034	-0.9354	10	0.15066	T	0.55	-24.3697	6.417	0.21721	0.093:0.6123:0.1402:0.1545	.	322	O95551	TYDP2_HUMAN	T	322;352;244;264	ENSP00000367440:A322T;ENSP00000437637:A352T;ENSP00000345345:A264T	ENSP00000345345:A264T	A	-	1	0	TDP2	24759120	0.997000	0.39634	0.997000	0.53966	0.980000	0.70556	1.004000	0.29822	0.222000	0.20900	-0.140000	0.14226	GCA	TDP2-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000040013.1		-	ENST00000341060.3	Missense_Mutation	SNP	6 : 24651141 - 24651141 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	278	56
WDR47	22911	broad.mit.edu	37	1	109533934	109533934	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109533934A>G	ENST00000369965.4	-	9	1972	c.1712T>C	c.(1711-1713)gTc>gCc	p.V571A	WDR47_ENST00000369962.3_Missense_Mutation_p.V570A|WDR47_ENST00000361054.3_Missense_Mutation_p.V542A|WDR47_ENST00000357672.3_Missense_Mutation_p.V542A|WDR47_ENST00000400794.3_Missense_Mutation_p.V578A	NM_001142550.1|NM_001142551.1|NM_014969.5	NP_001136022.1|NP_001136023.1|NP_055784.3	O94967	WDR47_HUMAN	WD repeat domain 47	570										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TGGCTTAATGACCGAATGTTC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	112	108			NA	NA	1		NA											NA				109533934		2203	4296	6499	SO:0001583	missense			AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433	22911	22911		WD repeat domain containing	29141	protein-coding gene	gene with protein product		615734			NA	10048485	Standard	NM_014969	NM_014969	NA	Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369965.4:c.1712T>C	1.37:g.109533934A>G	ENSP00000358982:p.Val571Ala	NA	Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	37	CCDS30787.1	.	.	.	.	.	.	.	.	.	.	A	13.13	2.145171	0.37825	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.55760	0.51;0.55;0.5;0.5;0.5	5.23	5.23	0.72850	.	0.481828	0.20274	N	0.095616	T	0.16514	0.0397	N	0.17082	0.46	0.35252	D	0.778798	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.0;0.001	T	0.04509	-1.0946	10	0.08381	T	0.77	-2.5593	12.8407	0.57800	1.0:0.0:0.0:0.0	.	542;578;570;571	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	A	578;570;542;571;542	ENSP00000383599:V578A;ENSP00000358979:V570A;ENSP00000354339:V542A;ENSP00000358982:V571A;ENSP00000350301:V542A	ENSP00000350301:V542A	V	-	2	0	WDR47	109335457	0.991000	0.36638	1.000000	0.80357	0.985000	0.73830	2.616000	0.46376	2.113000	0.64589	0.524000	0.50904	GTC	WDR47-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032413.2		-	ENST00000369965.4	Missense_Mutation	SNP	1 : 109533934 - 109533934 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	397	39
TRADD	8717	broad.mit.edu	37	16	67190432	67190432	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67190432A>G	ENST00000345057.4	-	2	600	c.132T>C	c.(130-132)gcT>gcC	p.A44A	TRADD_ENST00000566104.1_5'UTR	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	44					activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CAGCCTGCAGAGCCCTGTACA	0.627		NA									OREG0023872	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	72	76			NA	NA	16		NA											NA				67190432		2198	4300	6498	SO:0001819	synonymous_variant			L41690	CCDS10829.1	16q22	2008-07-28			ENSG00000102871	ENSG00000102871	8717	8717			12030	protein-coding gene	gene with protein product		603500			NA	7758105	Standard		NM_003789	NA	Approved	Hs.89862	uc002eri.1	Q15628	OTTHUMG00000137519	ENST00000345057.4:c.132T>C	16.37:g.67190432A>G		1097	B2RDS3|Q52NZ1	37	CCDS10829.1																																																																																			TRADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268841.2		-	ENST00000345057.4	Silent	SNP	16 : 67190432 - 67190432 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	537	89
CHAF1A	10036	broad.mit.edu	37	19	4433183	4433183	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4433183C>T	ENST00000301280.5	+	13	2421	c.2320C>T	c.(2320-2322)Cgg>Tgg	p.R774W	CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	774	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCAGCCCGCGGAGCCCCTC	0.662		NA						Chromatin Structure						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	49	47			NA	NA	19		NA											NA				4433183		2203	4300	6503	SO:0001583	missense			U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670	10036	10036			1910	protein-coding gene	gene with protein product	chromatin assembly factor I (150 kDa)	601246			NA	7600578	Standard	NM_005483	NM_005483	NA	Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.2320C>T	19.37:g.4433183C>T	ENSP00000301280:p.Arg774Trp	NA	Q6NXG5|Q7Z7K3|Q9UJY8	37	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	C	7.873	0.728653	0.15507	.	.	ENSG00000167670	ENST00000301280	T	0.30714	1.52	5.33	1.88	0.25563	.	.	.	.	.	T	0.12305	0.0299	N	0.08118	0	0.09310	N	1	D	0.58620	0.983	B	0.35413	0.202	T	0.08391	-1.0724	8	.	.	.	-4.6503	9.9541	0.41655	0.1352:0.5331:0.3317:0.0	.	774	Q13111	CAF1A_HUMAN	W	774	ENSP00000301280:R774W	.	R	+	1	2	CHAF1A	4384183	0.000000	0.05858	0.013000	0.15412	0.004000	0.04260	0.106000	0.15354	1.223000	0.43536	0.655000	0.94253	CGG	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458310.2		+	ENST00000301280.5	Missense_Mutation	SNP	19 : 4433183 - 4433183 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	576	126
PLOD1	5351	broad.mit.edu	37	1	12032953	12032953	+	Missense_Mutation	SNP	G	G	A	rs149425237	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12032953G>A	ENST00000196061.4	+	18	1954	c.1927G>A	c.(1927-1929)Gtc>Atc	p.V643I	PLOD1_ENST00000376369.3_Missense_Mutation_p.V690I	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	643	Fe2OG dioxygenase.				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	GGCCTTTGTCGTCCGCTACAA	0.577		NA											G	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	1	EXOME	NA	NA	8e-04	SNP								NA				0								G	ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	146	116	126		1927	5.4	0.9	1	dbSNP_134	126	10,8590	7.7+/-29.5	0,10,4290	yes	missense	PLOD1	NM_000302.3	29	0,13,6490	AA,AG,GG	NA	0.1163,0.0681,0.1	probably-damaging	643/728	12032953	13,12993	2203	4300	6503	SO:0001583	missense			BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	5351	5351	1.14.11.4		9081	protein-coding gene	gene with protein product	lysyl hydroxlase 1	153454	procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)	LLH, PLOD	NA	1577494	Standard	NM_000302	NM_000302	NA	Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.1927G>A	1.37:g.12032953G>A	ENSP00000196061:p.Val643Ile	NA	Q96AV9|Q9H132	37	CCDS142.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	34	5.292109	0.95546	6.81E-4	0.001163	ENSG00000083444	ENST00000414311;ENST00000376369;ENST00000196061	T;T	0.76448	-1.02;-1.02	5.39	5.39	0.77823	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.89784	0.6815	M	0.87900	2.915	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.995	D	0.91341	0.5097	10	0.87932	D	0	.	18.2058	0.89854	0.0:0.0:1.0:0.0	.	690;643	B4DR87;Q02809	.;PLOD1_HUMAN	I	307;690;643	ENSP00000365548:V690I;ENSP00000196061:V643I	ENSP00000196061:V643I	V	+	1	0	PLOD1	11955540	1.000000	0.71417	0.948000	0.38648	0.973000	0.67179	9.854000	0.99522	2.552000	0.86080	0.549000	0.68633	GTC	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006865.1		+	ENST00000196061.4	Missense_Mutation	SNP	1 : 12032953 - 12032953 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	434	41
OR10J3	441911	broad.mit.edu	37	1	159283813	159283813	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159283813C>T	ENST00000332217.5	-	1	636	c.637G>A	c.(637-639)Ggc>Agc	p.G213S		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AAGACCAGGCCCATAGGTAGA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	147	152			NA	NA	1		NA											NA				159283813		2203	4300	6503	SO:0001583	missense				CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266	441911	441911		GPCR / Class A : Olfactory receptors	14992	protein-coding gene	gene with protein product				OR10J3P	NA		Standard		NM_001004467	NA	Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.637G>A	1.37:g.159283813C>T	ENSP00000331789:p.Gly213Ser	NA		37	CCDS30909.1	.	.	.	.	.	.	.	.	.	.	C	0.800	-0.755732	0.03019	.	.	ENSG00000196266	ENST00000332217	T	0.36157	1.27	5.2	1.02	0.19986	GPCR, rhodopsin-like superfamily (1);	0.833010	0.09760	N	0.759438	T	0.05502	0.0145	N	0.10618	0.005	0.09310	N	0.999999	B	0.16603	0.018	B	0.21360	0.034	T	0.41893	-0.9483	10	0.27785	T	0.31	.	4.3199	0.11011	0.2964:0.5294:0.0:0.1742	.	213	Q5JRS4	O10J3_HUMAN	S	213	ENSP00000331789:G213S	ENSP00000331789:G213S	G	-	1	0	OR10J3	157550437	0.000000	0.05858	0.043000	0.18650	0.020000	0.10135	-0.119000	0.10676	0.029000	0.15352	0.561000	0.74099	GGC	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090629.1		-	ENST00000332217.5	Missense_Mutation	SNP	1 : 159283813 - 159283813 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	638	84
SPSB4	92369	broad.mit.edu	37	3	140785480	140785480	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:140785480C>T	ENST00000310546.2	+	2	1278	c.534C>T	c.(532-534)ctC>ctT	p.L178L		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	178	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						ACTCGCTGCTCGTGGTGCTGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	34	35			NA	NA	3		NA											NA				140785480		2203	4300	6503	SO:0001819	synonymous_variant				CCDS3115.1	3q23	2008-02-05			ENSG00000175093	ENSG00000175093	92369	92369			30630	protein-coding gene	gene with protein product		611660			NA	12076535	Standard	NM_080862	NM_080862	NA	Approved	SSB-4	uc003ett.3	Q96A44	OTTHUMG00000160223	ENST00000310546.2:c.534C>T	3.37:g.140785480C>T		NA		37	CCDS3115.1																																																																																			SPSB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359727.1		+	ENST00000310546.2	Silent	SNP	3 : 140785480 - 140785480 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	124	22
AGAP6	414189	broad.mit.edu	37	10	51768812	51768812	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:51768812C>T	ENST00000412531.3	+	8	999	c.927C>T	c.(925-927)tcC>tcT	p.S309S	AGAP6_ENST00000374056.4_Silent_p.S286S	NM_001077665.2	NP_001071133.2	C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	309					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.S309S(1)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CCCTGTGTTCCAATGGCATGC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	lung(1)											NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001819	synonymous_variant				CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149	414189	414189		ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing	23466	protein-coding gene	gene with protein product			centaurin, gamma-like family, member 3	CTGLF3	NA		Standard	NM_001077665	NM_001077665	NA	Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000412531.3:c.927C>T	10.37:g.51768812C>T		NA		37	CCDS44397.1																																																																																			AGAP6-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048058.2		+	ENST00000412531.3	Silent	SNP	10 : 51768812 - 51768812 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1737	76
GPR116	221395	broad.mit.edu	37	6	46856207	46856207	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46856207C>T	ENST00000283296.7	-	4	481	c.193G>A	c.(193-195)Gtt>Att	p.V65I	GPR116_ENST00000265417.7_Missense_Mutation_p.V65I|GPR116_ENST00000456426.2_Missense_Mutation_p.V65I|GPR116_ENST00000362015.4_Missense_Mutation_p.V65I	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	65					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TCAATATTAACAGTGTATTCT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(59;410 1274 8751 36715 50546)							NA				0													139	128	131			NA	NA	6		NA											NA				46856207		2203	4300	6503	SO:0001583	missense			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122	221395	221395		-, GPCR / Class B : Orphans, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	19030	protein-coding gene	gene with protein product					NA	12435584	Standard	NM_015234	NM_001098518	NA	Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.193G>A	6.37:g.46856207C>T	ENSP00000283296:p.Val65Ile	NA	O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	37	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	C	5.472	0.272212	0.10349	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417	T;T;T;T	0.28666	1.6;1.99;1.61;1.6	5.66	2.36	0.29203	.	0.224788	0.30311	N	0.009918	T	0.05135	0.0137	N	0.20986	0.625	0.21445	N	0.99968	B;B;B	0.12013	0.002;0.005;0.002	B;B;B	0.14023	0.002;0.01;0.002	T	0.37126	-0.9719	10	0.16420	T	0.52	-12.8691	4.0781	0.09914	0.0:0.5774:0.1901:0.2325	.	65;65;65	A8K0D8;Q8IZF2-3;Q8IZF2	.;.;GP116_HUMAN	I	65	ENSP00000283296:V65I;ENSP00000354563:V65I;ENSP00000412866:V65I;ENSP00000265417:V65I	ENSP00000265417:V65I	V	-	1	0	GPR116	46964166	0.196000	0.23350	0.196000	0.23383	0.143000	0.21401	0.543000	0.23237	0.821000	0.34540	-0.137000	0.14449	GTT	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040806.2		-	ENST00000283296.7	Missense_Mutation	SNP	6 : 46856207 - 46856207 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	451	87
TBX20	57057	broad.mit.edu	37	7	35284653	35284653	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:35284653C>A	ENST00000408931.3	-	4	1088	c.562G>T	c.(562-564)Gat>Tat	p.D188Y		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	188						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						AAAGGAGAATCTGGATGCACA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	97	102			NA	NA	7		NA											NA				35284653		2203	4300	6503	SO:0001583	missense			AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532	57057	57057		T-boxes	11598	protein-coding gene	gene with protein product		606061			NA	10936053	Standard	NM_020417	NM_001077653	NA	Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.562G>T	7.37:g.35284653C>A	ENSP00000386170:p.Asp188Tyr	NA	A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	37	CCDS43568.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924360	0.52653	.	.	ENSG00000164532	ENST00000408931	D	0.91521	-2.86	5.19	5.19	0.71726	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.97595	0.9212	H	0.98754	4.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99509	1.0955	10	0.87932	D	0	.	18.7096	0.91651	0.0:1.0:0.0:0.0	.	188	Q9UMR3	TBX20_HUMAN	Y	188	ENSP00000386170:D188Y	ENSP00000386170:D188Y	D	-	1	0	TBX20	35251178	1.000000	0.71417	0.995000	0.50966	0.037000	0.13140	7.818000	0.86416	2.427000	0.82271	0.491000	0.48974	GAT	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216870.2		-	ENST00000408931.3	Missense_Mutation	SNP	7 : 35284653 - 35284653 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	131	25
KIAA1109	84162	broad.mit.edu	37	4	123258084	123258084	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123258084C>A	ENST00000264501.4	+	71	12432	c.12059C>A	c.(12058-12060)cCt>cAt	p.P4020H	KIAA1109_ENST00000388738.3_Missense_Mutation_p.P4020H			Q2LD37	K1109_HUMAN	KIAA1109	4020					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATACCAGATCCTATGGAAGAA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													216	185	195			NA	NA	4		NA											NA				123258084		1876	4111	5987	SO:0001583	missense			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688	84162	84162			26953	protein-coding gene	gene with protein product	fragile site-associated	611565			NA	16386706	Standard	NM_020797	NM_015312	NA	Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.12059C>A	4.37:g.123258084C>A	ENSP00000264501:p.Pro4020His	NA	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.66|14.66	2.601491|2.601491	0.46423|0.46423	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000306802|ENST00000264501;ENST00000388738;ENST00000438707	.|T;T;T	.|0.30981	.|2.52;2.52;1.51	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	.|0.222299	.|0.39020	.|N	.|0.001488	T|T	0.37320|0.37320	0.0999|0.0999	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|P;P	.|0.46656	.|0.882;0.813	.|P;P	.|0.51615	.|0.675;0.476	T|T	0.02232|0.02232	-1.1191|-1.1191	5|10	.|0.27785	.|T	.|0.31	.|.	15.538|15.538	0.76018|0.76018	0.1385:0.8615:0.0:0.0|0.1385:0.8615:0.0:0.0	.|.	.|4019;4020	.|Q2LD37-4;Q2LD37	.|.;K1109_HUMAN	I|H	396|4020;4020;689	.|ENSP00000264501:P4020H;ENSP00000373390:P4020H;ENSP00000410874:P689H	.|ENSP00000264501:P4020H	L|P	+|+	1|2	2|0	KIAA1109|KIAA1109	123477534|123477534	0.971000|0.971000	0.33674|0.33674	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.864000|3.864000	0.56024|0.56024	2.530000|2.530000	0.85305|0.85305	0.467000|0.467000	0.42956|0.42956	CTA|CCT	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316415.1		+	ENST00000264501.4	Missense_Mutation	SNP	4 : 123258084 - 123258084 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	390	34
DRAXIN	374946	broad.mit.edu	37	1	11775243	11775243	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11775243C>T	ENST00000294485.5	+	6	1050	c.915C>T	c.(913-915)ttC>ttT	p.F305F		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein	NA											NA						ACAAATGCTTCGATGACTGCA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													180	135	150			NA	NA	1		NA											NA				11775243		2203	4300	6503	SO:0001819	synonymous_variant			AY358750	CCDS135.1	1p36.22	2012-08-20	2012-08-14	2012-08-14	ENSG00000162490	ENSG00000162490	374946	374946			25054	protein-coding gene	gene with protein product	dorsal repulsive axon guidance protein, neural tissue-specific cysteine-rich protein	612682	chromosome 1 open reading frame 187	C1orf187	NA	19150847	Standard	NM_198545	NM_198545	NA	Approved	FLJ34999, Draxin, Neucrin	uc001asr.1	Q8NBI3	OTTHUMG00000002227	ENST00000294485.5:c.915C>T	1.37:g.11775243C>T		NA		37	CCDS135.1																																																																																			DRAXIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006325.1		+	ENST00000294485.5	Silent	SNP	1 : 11775243 - 11775243 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	79
PCSK1	5122	broad.mit.edu	37	5	95728750	95728750	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95728750G>A	ENST00000311106.3	-	14	2454	c.2217C>T	c.(2215-2217)gaC>gaT	p.D739D	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Silent_p.D692D	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	739	Amphipathic (Potential).				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAAGCAGCCGGTCGTCTCTGT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	170	167			NA	NA	5		NA											NA				95728750		2203	4300	6503	SO:0001819	synonymous_variant				CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426	5122	5122			8743	protein-coding gene	gene with protein product	prohormone convertase 3, prohormone convertase 1, neuroendocrine convertase 1, proprotein convertase 1	162150		NEC1	NA	1765368	Standard	NM_000439	NM_000439	NA	Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.2217C>T	5.37:g.95728750G>A		NA	P78478|Q92532	37	CCDS4081.1																																																																																			PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000242851.1		-	ENST00000311106.3	Silent	SNP	5 : 95728750 - 95728750 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1500	285
ANK2	287	broad.mit.edu	37	4	114264287	114264287	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114264287C>T	ENST00000357077.4	+	34	4290	c.4237C>T	c.(4237-4239)Cta>Tta	p.L1413L	ANK2_ENST00000509550.1_Silent_p.L589L|ANK2_ENST00000506722.1_Silent_p.L1404L|ANK2_ENST00000394537.3_Silent_p.L1413L|ANK2_ENST00000264366.6_Silent_p.L1380L|ANK2_ENST00000510275.2_Silent_p.L65L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1380					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TAGACTTCCTCTATTTGTCAA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	112	113			NA	NA	4		NA											NA				114264287		2203	4300	6503	SO:0001819	synonymous_variant			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362	287	287		Ankyrin repeat domain containing	493	protein-coding gene	gene with protein product		106410	long (electrocardiographic) QT syndrome 4	LQT4	NA	7485162, 12571597	Standard	NM_001148	NM_001148	NA	Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.4237C>T	4.37:g.114264287C>T		NA	Q01485|Q08AC7|Q08AC8|Q7Z3L5	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	7.665	0.685802	0.14973	.	.	ENSG00000145362	ENST00000514960	.	.	.	5.5	4.66	0.58398	.	.	.	.	.	T	0.59622	0.2207	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57388	-0.7820	4	.	.	.	.	9.0002	0.36077	0.0:0.7784:0.0:0.2216	.	.	.	.	F	425	.	.	S	+	2	0	ANK2	114483736	0.998000	0.40836	1.000000	0.80357	0.982000	0.71751	2.770000	0.47662	1.321000	0.45227	-0.143000	0.13931	TCT	ANK2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256422.2		+	ENST00000357077.4	Silent	SNP	4 : 114264287 - 114264287 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	299	51
DVL1	1855	broad.mit.edu	37	1	1275821	1275821	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1275821C>T	ENST00000378888.5	-	6	952	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	DVL1_ENST00000378891.5_Missense_Mutation_p.R223Q			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	223	Poly-Arg.				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTGCTTCCTCCGCCGGCGTTT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	40	38			NA	NA	1		NA											NA				1275821		2195	4294	6489	SO:0001583	missense			AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404	1855	1855		Dishevelled homologs	3084	protein-coding gene	gene with protein product		601365	dishevelled 1 (homologous to Drosophila dsh), dishevelled, dsh homolog 1 (Drosophila)		NA	8817329	Standard	NM_004421	NM_004421	NA	Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.668G>A	1.37:g.1275821C>T	ENSP00000368166:p.Arg223Gln	NA	Q5TA33|Q5TA35	37		.	.	.	.	.	.	.	.	.	.	C	18.61	3.661443	0.67700	.	.	ENSG00000107404	ENST00000378891;ENST00000378888	T;T	0.06687	3.33;3.27	3.79	3.79	0.43588	.	0.064020	0.64402	D	0.000008	T	0.27419	0.0673	M	0.70842	2.15	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	T	0.04522	-1.0945	10	0.54805	T	0.06	.	16.225	0.82285	0.0:1.0:0.0:0.0	.	223	O14640-2	.	Q	223	ENSP00000368169:R223Q;ENSP00000368166:R223Q	ENSP00000368166:R223Q	R	-	2	0	DVL1	1265684	1.000000	0.71417	0.955000	0.39395	0.616000	0.37450	7.146000	0.77373	2.127000	0.65507	0.306000	0.20318	CGG	DVL1-004	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000008490.1		-	ENST00000378888.5	Missense_Mutation	SNP	1 : 1275821 - 1275821 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	142	10
SCN4A	6329	broad.mit.edu	37	17	62021184	62021184	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62021184C>T	ENST00000578147.1	-	22	4015	c.3939G>A	c.(3937-3939)acG>acA	p.T1313T	SCN4A_ENST00000435607.1_Silent_p.T1313T			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1313			T -> M (in PMC).		muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TCTGTTCCTCCGTCATAAAGA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	87	86			NA	NA	17		NA											NA				62021184		2153	4289	6442	SO:0001819	synonymous_variant			U24693		17q23.3	2012-02-26	2007-01-23				6329	6329		Sodium channels, Voltage-gated ion channels / Sodium channels	10591	protein-coding gene	gene with protein product		603967		HYKPP	NA	1654742, 1659948, 16382098	Standard	NM_000334	XM_005257566	NA	Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000578147.1:c.3939G>A	17.37:g.62021184C>T		NA	Q15478|Q16447|Q7Z6B1	37																																																																																				SCN4A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000444562.1		-	ENST00000578147.1	Silent	SNP	17 : 62021184 - 62021184 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	165	29
COCH	1690	broad.mit.edu	37	14	31355162	31355162	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31355162G>T	ENST00000460581.2	+	9	1331	c.785G>T	c.(784-786)gGc>gTc	p.G262V	RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000382493.4_Missense_Mutation_p.G225V|COCH_ENST00000216361.4_Missense_Mutation_p.G374V|COCH_ENST00000475087.1_Missense_Mutation_p.G374V|COCH_ENST00000396618.3_Missense_Mutation_p.G374V			O43405	COCH_HUMAN	cochlin	374	VWFA 1.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		CTAATTGATGGCTCCAGCAGT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	86	91			NA	NA	14		NA											NA				31355162		2203	4300	6503	SO:0001583	missense				CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473	1690	1690			2180	protein-coding gene	gene with protein product		603196	coagulation factor C (Limulus polyphemus homolog); cochlin, coagulation factor C homolog, cochlin (Limulus polyphemus)	DFNA31, DFNA9	NA	9806553	Standard	NM_004086	NM_004086	NA	Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000460581.2:c.785G>T	14.37:g.31355162G>T	ENSP00000451713:p.Gly262Val	NA	A8K9K9|D3DS84	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.2|26.2	4.713168|4.713168	0.89112|0.89112	.|.	.|.	ENSG00000100473|ENSG00000100473	ENST00000468826|ENST00000216361;ENST00000396618;ENST00000475087;ENST00000460581;ENST00000382493	.|D;D;D;D;D	.|0.84370	.|-1.84;-1.84;-1.84;-1.84;-1.84	6.02|6.02	6.02|6.02	0.97574|0.97574	.|von Willebrand factor, type A (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94525|0.94525	0.8237|0.8237	M|M	0.91038|0.91038	3.17|3.17	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	D|D	0.94690|0.94690	0.7873|0.7873	5|10	.|0.87932	.|D	.|0	-14.0876|-14.0876	20.547|20.547	0.99278|0.99278	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|225;374;374	.|E7EN67;Q96IU6;O43405	.|.;.;COCH_HUMAN	S|V	258|374;374;374;262;225	.|ENSP00000216361:G374V;ENSP00000379862:G374V;ENSP00000451528:G374V;ENSP00000451713:G262V;ENSP00000371933:G225V	.|ENSP00000216361:G374V	A|G	+|+	1|2	0|0	COCH|COCH	30424913|30424913	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.827000|9.827000	0.99397|0.99397	2.850000|2.850000	0.98022|0.98022	0.650000|0.650000	0.86243|0.86243	GCT|GGC	COCH-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000409705.1		+	ENST00000460581.2	Missense_Mutation	SNP	14 : 31355162 - 31355162 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	384	60
FAAH2	158584	broad.mit.edu	37	X	57318998	57318998	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:57318998G>A	ENST00000374900.4	+	2	380	c.260G>A	c.(259-261)gGa>gAa	p.G87E		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	87						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						ATGATCAATGGAATTGTCAAG	0.393		NA								HNSCC(52;0.14)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	151	158			NA	NA	X		NA											NA				57318998		2203	4300	6503	SO:0001583	missense			AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591	158584	158584			26440	protein-coding gene	gene with protein product		300654	amidase domain containing	AMDD	NA	17015445	Standard	NM_174912	NM_174912	NA	Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.260G>A	X.37:g.57318998G>A	ENSP00000364035:p.Gly87Glu	NA	Q86VT2|Q96N98	37	CCDS14375.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.802073	0.31869	.	.	ENSG00000165591	ENST00000374900	T	0.54675	0.56	2.95	1.94	0.25998	Amidase signature domain (2);	0.068514	0.56097	U	0.000026	T	0.38427	0.1040	N	0.14661	0.345	0.24366	N	0.994852	B	0.29571	0.249	B	0.41135	0.348	T	0.37820	-0.9689	10	0.72032	D	0.01	.	6.5532	0.22446	0.0:0.4334:0.5666:0.0	.	87	Q6GMR7	FAAH2_HUMAN	E	87	ENSP00000364035:G87E	ENSP00000364035:G87E	G	+	2	0	FAAH2	57335723	1.000000	0.71417	0.978000	0.43139	0.943000	0.58893	1.589000	0.36644	1.215000	0.43411	0.594000	0.82650	GGA	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056919.1		+	ENST00000374900.4	Missense_Mutation	SNP	X : 57318998 - 57318998 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	108
PHC2	1912	broad.mit.edu	37	1	33797020	33797020	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33797020G>T	ENST00000257118.5	-	11	1985	c.1932C>A	c.(1930-1932)ctC>ctA	p.L644L	PHC2_ENST00000373422.3_Silent_p.L250L|PHC2_ENST00000419414.2_Silent_p.L645L|PHC2_ENST00000373416.1_Silent_p.L109L|PHC2_ENST00000431992.1_Silent_p.L615L|PHC2_ENST00000373418.3_Silent_p.L109L|PHC2_ENST00000485928.1_5'UTR	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	644					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCCGGCCACAGAGCTCACACT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	137	133			NA	NA	1		NA											NA				33797020		2203	4300	6503	SO:0001819	synonymous_variant			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686	1912	1912		Sterile alpha motif (SAM) domain containing	3183	protein-coding gene	gene with protein product		602979	early development regulator 2 (homolog of polyhomeotic 2), polyhomeotic-like 2 (Drosophila)	EDR2	NA	9121482, 12384788	Standard	NM_198040	NM_198040	NA	Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.1932C>A	1.37:g.33797020G>T		NA	A1L4Q1|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	37	CCDS378.1																																																																																			PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000011895.1		-	ENST00000257118.5	Silent	SNP	1 : 33797020 - 33797020 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	748	77
RNF43	54894	broad.mit.edu	37	17	56440681	56440681	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56440681G>A	ENST00000584437.1	-	4	2492	c.537C>T	c.(535-537)aaC>aaT	p.N179N	RNF43_ENST00000407977.2_Silent_p.N179N|RNF43_ENST00000577625.1_Silent_p.N52N|RNF43_ENST00000577716.1_Silent_p.N179N|RNF43_ENST00000583753.1_Silent_p.N138N|RNF43_ENST00000500597.2_Silent_p.N138N|RNF43_ENST00000581868.1_Silent_p.N52N|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	179						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGCCTTTTGGTTCTTGTACA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	128	128			NA	NA	17		NA											NA				56440681		2203	4300	6503	SO:0001819	synonymous_variant				CCDS11607.1	17q23.2	2013-01-09					54894	54894		RING-type (C3HC4) zinc fingers	18505	protein-coding gene	gene with protein product		612482			NA		Standard	NM_017763	NM_017763	NA	Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.537C>T	17.37:g.56440681G>A		NA	A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	37	CCDS11607.1																																																																																			RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444713.1		-	ENST00000584437.1	Silent	SNP	17 : 56440681 - 56440681 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	519	96
NKX2-4	644524	broad.mit.edu	37	20	21376850	21376850	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21376850T>G	ENST00000351817.4	-	2	1392	c.764A>C	c.(763-765)cAg>cCg	p.Q255P		NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	255					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|upper_aerodigestive_tract(1)	3						CTGCTGCAGCTGCTGCGCCGC	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	20	20			NA	NA	20		NA											NA				21376850		2199	4300	6499	SO:0001583	missense				CCDS42855.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125816	ENSG00000125816	644524	644524		Homeoboxes / ANTP class : NKL subclass	7837	protein-coding gene	gene with protein product		607808	NK-2 (Drosophila) homolog D, NK2 transcription factor related, locus 4 (Drosophila)	NKX2D	NA	1346742, 10818213	Standard		NM_033176	NA	Approved	NKX2.4	uc010gcz.3	Q9H2Z4	OTTHUMG00000032022	ENST00000351817.4:c.764A>C	20.37:g.21376850T>G	ENSP00000345147:p.Gln255Pro	NA	Q5VZV8	37	CCDS42855.1	.	.	.	.	.	.	.	.	.	.	T	14.31	2.497531	0.44455	.	.	ENSG00000125816	ENST00000351817	D	0.92099	-2.97	3.6	2.42	0.29668	.	0.000000	0.38663	U	0.001620	D	0.92028	0.7474	L	0.60455	1.87	0.47994	D	0.99956	D	0.53885	0.963	P	0.55785	0.784	D	0.88340	0.2974	10	0.30854	T	0.27	.	9.2714	0.37673	0.0:0.0:0.1828:0.8172	.	255	Q9H2Z4	NKX24_HUMAN	P	255	ENSP00000345147:Q255P	ENSP00000345147:Q255P	Q	-	2	0	NKX2-4	21324850	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.288000	0.78691	0.402000	0.25451	0.397000	0.26171	CAG	NKX2-4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078270.2		-	ENST00000351817.4	Missense_Mutation	SNP	20 : 21376850 - 21376850 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	81	16
SCRN1	9805	broad.mit.edu	37	7	29983760	29983760	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:29983760G>T	ENST00000426154.1	-	4	553	c.377C>A	c.(376-378)gCc>gAc	p.A126D	SCRN1_ENST00000494620.1_5'UTR|SCRN1_ENST00000425819.2_Missense_Mutation_p.A58D|SCRN1_ENST00000434476.2_Missense_Mutation_p.A146D|SCRN1_ENST00000409497.1_Missense_Mutation_p.A126D|SCRN1_ENST00000242059.5_Missense_Mutation_p.A126D|SCRN1_ENST00000416113.2_Missense_Mutation_p.A17D	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	126					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						GACATCTAAGGCTTCTTTAGC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	104	108			NA	NA	7		NA											NA				29983760		2203	4300	6503	SO:0001583	missense			D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193	9805	9805			22192	protein-coding gene	gene with protein product		614965			NA	12221138	Standard	NM_014766	NM_014766	NA	Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.377C>A	7.37:g.29983760G>T	ENSP00000409068:p.Ala126Asp	NA	A8K0E9|Q25QX7|Q8IWD1	37	CCDS5422.1	.	.	.	.	.	.	.	.	.	.	G	33	5.281032	0.95489	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000425819;ENST00000409497;ENST00000416113;ENST00000434476;ENST00000421434;ENST00000438497	T;T;T;T;T;T;T;T	0.56103	1.67;1.67;1.67;1.67;1.88;1.67;1.67;0.48	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000001	D	0.82421	0.5033	H	0.96175	3.78	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.87229	0.2259	9	.	.	.	-17.6619	18.9075	0.92469	0.0:0.0:1.0:0.0	.	146;58;126	C9JPG0;B4DIP5;Q12765	.;.;SCRN1_HUMAN	D	126;126;58;126;17;146;126;126	ENSP00000242059:A126D;ENSP00000409068:A126D;ENSP00000414245:A58D;ENSP00000386872:A126D;ENSP00000407460:A17D;ENSP00000388942:A146D;ENSP00000413184:A126D;ENSP00000406289:A126D	.	A	-	2	0	SCRN1	29950285	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.815000	0.96918	0.561000	0.74099	GCC	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214231.2		-	ENST00000426154.1	Missense_Mutation	SNP	7 : 29983760 - 29983760 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	428	74
ANKRD11	29123	broad.mit.edu	37	16	89348801	89348801	+	Silent	SNP	G	G	A	rs146025366	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89348801G>A	ENST00000301030.4	-	9	4609	c.4149C>T	c.(4147-4149)ggC>ggT	p.G1383G	ANKRD11_ENST00000378330.2_Silent_p.G1383G	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1383	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCCTGCTACCGCCCTCCTTGT	0.512		NA											G	5	0.0023	NA	0.01	2184	NA	0.9998	,	,	NA	3e-04	0.004	NA	NA	0.0024	0.9643	LOWCOV,EXOME	NA	NA	2e-04	SNP								NA				0								G		0,4396		0,0,2198	120	104	109		4149	-9	0	16	dbSNP_134	109	31,8569	21.0+/-64.5	0,31,4269	no	coding-synonymous	ANKRD11	NM_013275.4		0,31,6467	AA,AG,GG	NA	0.3605,0.0,0.2385		1383/2664	89348801	31,12965	2198	4300	6498	SO:0001819	synonymous_variant			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522	29123	29123		Ankyrin repeat domain containing	21316	protein-coding gene	gene with protein product		611192			NA	11483580	Standard	NM_013275	NM_001256182	NA	Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.4149C>T	16.37:g.89348801G>A		NA	Q6NTG1|Q6QMF8	37	CCDS32513.1																																																																																			ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000430462.3		-	ENST00000301030.4	Silent	SNP	16 : 89348801 - 89348801 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	778	141
CPS1	1373	broad.mit.edu	37	2	211502491	211502491	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211502491C>A	ENST00000233072.5	+	22	2949	c.2753C>A	c.(2752-2754)tCa>tAa	p.S918*	CPS1_ENST00000451903.2_Nonsense_Mutation_p.S467*|CPS1_ENST00000430249.2_Nonsense_Mutation_p.S924*|CPS1_ENST00000497121.1_3'UTR	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	918			S -> P (in CPS1D).		carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AAGCAGATTTCAAAATGCCTT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	91	89			NA	NA	2		NA											NA				211502491		2203	4300	6503	SO:0001587	stop_gained			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	1373	1373	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	carbamoyl-phosphate synthetase 1, mitochondrial		NA		Standard		NM_001122633	NA	Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2753C>A	2.37:g.211502491C>A	ENSP00000233072:p.Ser918*	NA	B7Z818|O43774|Q7Z5I5	37	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	40	8.056447	0.98632	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	.	.	.	5.47	5.47	0.80525	.	0.110943	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-1.9867	14.2331	0.65906	0.0:0.7351:0.2649:0.0	.	.	.	.	X	924;926;918;467	.	ENSP00000233072:S918X	S	+	2	0	CPS1	211210736	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	5.994000	0.70623	2.708000	0.92522	0.650000	0.86243	TCA	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256569.5		+	ENST00000233072.5	Nonsense_Mutation	SNP	2 : 211502491 - 211502491 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	469	91
USP35	57558	broad.mit.edu	37	11	77921647	77921647	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77921647G>T	ENST00000529308.1	+	10	3007	c.2746G>T	c.(2746-2748)Gac>Tac	p.D916Y	USP35_ENST00000441408.2_Missense_Mutation_p.D502Y|USP35_ENST00000530267.1_Missense_Mutation_p.D484Y|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.D647Y	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	916					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CTTCCCTAAGGACACAGCCTA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	111	112			NA	NA	11		NA											NA				77921647		1959	4135	6094	SO:0001583	missense			AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369	57558	57558		Ubiquitin-specific peptidases	20061	protein-coding gene	gene with protein product			ubiquitin specific protease 35		NA	12838346	Standard	XM_290527	NM_020798	NA	Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.2746G>T	11.37:g.77921647G>T	ENSP00000431876:p.Asp916Tyr	NA		37	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614634	0.87359	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	4.9	4.9	0.64082	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000007	T	0.55337	0.1914	M	0.69185	2.1	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.976;1.0	T	0.55418	-0.8144	10	0.49607	T	0.09	-43.9285	18.2591	0.90028	0.0:0.0:1.0:0.0	.	916;502	Q9P2H5;E7EWV7	UBP35_HUMAN;.	Y	484;916;502;647	ENSP00000435468:D484Y;ENSP00000431876:D916Y;ENSP00000400825:D502Y;ENSP00000434942:D647Y	ENSP00000400825:D502Y	D	+	1	0	USP35	77599295	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.411000	0.97342	2.539000	0.85634	0.561000	0.74099	GAC	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390026.1		+	ENST00000529308.1	Missense_Mutation	SNP	11 : 77921647 - 77921647 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	858	178
IKBKE	9641	broad.mit.edu	37	1	206664154	206664154	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206664154C>T	ENST00000367120.3	+	17	2069	c.1696C>T	c.(1696-1698)Ctt>Ttt	p.L566F	IKBKE_ENST00000537984.1_Missense_Mutation_p.L481F	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	566					DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					TCCTCCAGGGCTTGGCTACAA	0.542		NA									OREG0014171	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	112	118			NA	NA	1		NA											NA				206664154		2203	4300	6503	SO:0001583	missense			AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466		NA	9641			14552	protein-coding gene	gene with protein product		605048			NA	10421793, 10882136	Standard		NM_001193321	NA	Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.1696C>T	1.37:g.206664154C>T	ENSP00000356087:p.Leu566Phe	2161	D3DT78|Q3KR43|Q5JTS6	37	CCDS30996.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.160932	0.78226	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.22945	1.93;1.93	5.61	4.6	0.57074	.	0.114512	0.39544	N	0.001329	T	0.42810	0.1219	M	0.64997	1.995	0.37720	D	0.92488	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.47459	-0.9116	10	0.72032	D	0.01	-0.7411	6.4145	0.21710	0.0:0.8484:0.0:0.1515	.	481;566	Q3B754;Q14164	.;IKKE_HUMAN	F	566;481	ENSP00000356087:L566F;ENSP00000444529:L481F	ENSP00000356087:L566F	L	+	1	0	IKBKE	204730777	1.000000	0.71417	0.994000	0.49952	0.916000	0.54674	1.776000	0.38594	2.656000	0.90262	0.655000	0.94253	CTT	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088484.1		+	ENST00000367120.3	Missense_Mutation	SNP	1 : 206664154 - 206664154 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	449	55
CACNA1C	775	broad.mit.edu	37	12	2795331	2795331	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2795331G>T	ENST00000399655.1	+	45	5945		c.e45-1		CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399597.1_Splice_Site|CACNA1C_ENST00000399591.1_Splice_Site|CACNA1C_ENST00000399603.1_Splice_Site|CACNA1C_ENST00000335762.5_Splice_Site|CACNA1C_ENST00000347598.4_Splice_Site|CACNA1C_ENST00000399595.1_Splice_Site|CACNA1C_ENST00000399649.1_Splice_Site|CACNA1C_ENST00000327702.7_Splice_Site|CACNA1C_ENST00000399638.1_Splice_Site|CACNA1C_ENST00000399606.1_Splice_Site|CACNA1C_ENST00000399629.1_Splice_Site|CACNA1C_ENST00000399641.1_Splice_Site|CACNA1C_ENST00000344100.3_Splice_Site|CACNA1C_ENST00000402845.3_Splice_Site|CACNA1C_ENST00000406454.3_Splice_Site|CACNA1C_ENST00000399621.1_Splice_Site|CACNA1C_ENST00000399617.1_Splice_Site|CACNA1C_ENST00000399637.1_Splice_Site|CACNA1C_ENST00000399644.1_Splice_Site|CACNA1C_ENST00000399601.1_Splice_Site|CACNA1C_ENST00000399634.1_Splice_Site	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	NA					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGGCTTTGCAGGTCGAAGGGC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	76	75			NA	NA	12		NA											NA				2795331		2018	4174	6192	SO:0001630	splice_region_variant			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067	775	775		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1	NA	1650913, 16382099	Standard	NM_000719	NM_001129832	NA	Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000399655.1:c.5681-1G>T	12.37:g.2795331G>T		NA	B2RUT3|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	37	CCDS44794.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861970	0.71949	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	.	.	.	4.35	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4152	0.87498	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1C	2665592	1.000000	0.71417	0.997000	0.53966	0.892000	0.51952	9.147000	0.94646	2.416000	0.81992	0.460000	0.39030	.	CACNA1C-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317019.2	Intron	+	ENST00000399655.1	Splice_Site	SNP	12 : 2795331 - 2795331 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	411	67
DAGLB	221955	broad.mit.edu	37	7	6523680	6523680	+	Translation_Start_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6523680A>C	ENST00000436575.1	-	0	141				KDELR2_ENST00000490996.1_Missense_Mutation_p.I3M|FLJ20306_ENST00000601673.1_Missense_Mutation_p.K15N|KDELR2_ENST00000463747.1_5'UTR|KDELR2_ENST00000258739.4_Missense_Mutation_p.I3M			Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	NA					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		TCAGCCGGAAAATGTTCATgg	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													10	12	11			NA	NA	7		NA											NA				6523680		2184	4274	6458					AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	221955	221955	3.1.1.-		28923	protein-coding gene	gene with protein product		614016			NA		Standard	NM_139179	NM_139179	NA	Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000436575.1:c.-111T>G	7.37:g.6523680A>C		NA	A4D2P3|B3KV90|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	37		.	.	.	.	.	.	.	.	.	.	A	20.5	4.002241	0.74932	.	.	ENSG00000136240	ENST00000258739;ENST00000490996	T	0.49139	0.79	5.12	3.28	0.37604	.	0.048586	0.85682	D	0.000000	T	0.73094	0.3543	H	0.95982	3.75	0.58432	D	0.999999	D;B	0.53619	0.961;0.268	P;B	0.60473	0.875;0.318	T	0.77078	-0.2721	10	0.72032	D	0.01	-16.5231	9.7979	0.40746	0.074:0.0:0.7871:0.1389	.	3;3	P33947-2;P33947	.;ERD22_HUMAN	M	3	ENSP00000258739:I3M	ENSP00000258739:I3M	I	-	3	3	KDELR2	6490205	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	0.576000	0.23744	0.531000	0.28639	-0.253000	0.11424	ATT	DAGLB-007	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000341927.1		-	ENST00000436575.1	De_novo_Start_OutOfFrame	SNP	7 : 6523680 - 6523680 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	93	17
ZNF773	374928	broad.mit.edu	37	19	58018743	58018743	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58018743G>A	ENST00000282292.4	+	4	1420	c.1280G>A	c.(1279-1281)aGc>aAc	p.S427N	ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.S426N	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		TTTCGCCACAGCTCCAGTCTT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	67	66			NA	NA	19		NA											NA				58018743		2203	4300	6503	SO:0001583	missense			BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439	374928	374928		Zinc fingers, C2H2-type, -	30487	protein-coding gene	gene with protein product			zinc finger protein 419B	ZNF419B	NA	12477932	Standard	NM_198542	NM_198542	NA	Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.1280G>A	19.37:g.58018743G>A	ENSP00000282292:p.Ser427Asn	NA	Q96DL8	37	CCDS33134.1	.	.	.	.	.	.	.	.	.	.	G	1.733	-0.493537	0.04322	.	.	ENSG00000152439	ENST00000282292	T	0.10477	2.87	1.03	-0.784	0.10954	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09642	0.0237	L	0.58510	1.815	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.08055	0.003;0.0	T	0.38993	-0.9635	9	0.23302	T	0.38	.	5.3128	0.15839	0.4788:0.0:0.5212:0.0	.	426;427	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	N	427	ENSP00000282292:S427N	ENSP00000282292:S427N	S	+	2	0	ZNF773	62710555	0.000000	0.05858	0.097000	0.21041	0.949000	0.60115	-2.597000	0.00894	-0.237000	0.09739	0.305000	0.20034	AGC	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466475.1		+	ENST00000282292.4	Missense_Mutation	SNP	19 : 58018743 - 58018743 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	474	101
ITGAV	3685	broad.mit.edu	37	2	187531458	187531458	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:187531458C>T	ENST00000261023.3	+	22	2468	c.2194C>T	c.(2194-2196)Cac>Tac	p.H732Y	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Missense_Mutation_p.H686Y|ITGAV_ENST00000374907.3_Missense_Mutation_p.H696Y	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	732					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		TTTCAGTGTGCACCAGCAGTC	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(58;108 1995 6081)							NA				0													101	97	99			NA	NA	2		NA											NA				187531458		2203	4300	6503	SO:0001583	missense				CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448	3685	3685		CD molecules, Integrins	6150	protein-coding gene	gene with protein product		193210	antigen identified by monoclonal antibody L230, vitronectin receptor, integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)	VNRA, MSK8, VTNR	NA	2454952	Standard	NM_002210	NM_001144999	NA	Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.2194C>T	2.37:g.187531458C>T	ENSP00000261023:p.His732Tyr	NA	A0AV67|B0LPF4|D3DPG8|Q53SK4|Q59EB7|Q6LD15	37	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463354	0.84425	.	.	ENSG00000138448	ENST00000261023;ENST00000374907;ENST00000433736	T;T;T	0.44881	0.91;0.91;0.91	5.67	5.67	0.87782	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	T	0.58424	0.2121	M	0.62723	1.935	0.80722	D	1	P;P;P	0.47910	0.902;0.659;0.902	P;P;P	0.54270	0.747;0.5;0.747	T	0.56589	-0.7954	10	0.51188	T	0.08	.	19.7762	0.96393	0.0:1.0:0.0:0.0	.	686;696;732	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	Y	732;696;686	ENSP00000261023:H732Y;ENSP00000364042:H696Y;ENSP00000404291:H686Y	ENSP00000261023:H732Y	H	+	1	0	ITGAV	187239703	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	3.907000	0.56348	2.664000	0.90586	0.557000	0.71058	CAC	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255882.2		+	ENST00000261023.3	Missense_Mutation	SNP	2 : 187531458 - 187531458 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	475	71
DDX10	1662	broad.mit.edu	37	11	108709201	108709201	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108709201A>G	ENST00000526794.1	+	14	2026	c.1994A>G	c.(1993-1995)aAg>aGg	p.K665R	DDX10_ENST00000322536.3_Missense_Mutation_p.K665R			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	665							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TCCAGCATCAAGAAAAAAATG	0.323		NA	T	NUP98	AML*									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		11	11q22-q23	1662	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10		L	0													64	70	68			NA	NA	11		NA											NA				108709201		2201	4297	6498	SO:0001583	missense			U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105	1662	1662		DEAD-boxes	2735	protein-coding gene	gene with protein product		601235	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)		NA	8660968	Standard	NM_004398	NM_004398	NA	Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000526794.1:c.1994A>G	11.37:g.108709201A>G	ENSP00000432032:p.Lys665Arg	NA	B2RCQ3|Q5BJD8	37		.	.	.	.	.	.	.	.	.	.	A	18.06	3.538758	0.65085	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	T;T	0.46819	0.86;0.87	5.72	5.72	0.89469	.	0.243433	0.35615	N	0.003099	T	0.56558	0.1993	M	0.64404	1.975	0.45318	D	0.998318	D;P	0.56521	0.976;0.877	P;B	0.52598	0.703;0.197	T	0.58584	-0.7611	10	0.48119	T	0.1	-11.3921	13.3722	0.60719	1.0:0.0:0.0:0.0	.	665;665	Q13206;E9PIF2	DDX10_HUMAN;.	R	665;571;665	ENSP00000314348:K665R;ENSP00000432032:K665R	ENSP00000314348:K665R	K	+	2	0	DDX10	108214411	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.130000	0.57964	2.176000	0.68965	0.528000	0.53228	AAG	DDX10-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000390346.1		+	ENST00000526794.1	Missense_Mutation	SNP	11 : 108709201 - 108709201 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	337	67
WDR11	55717	broad.mit.edu	37	10	122626665	122626665	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:122626665C>A	ENST00000263461.6	+	9	1524	c.1278C>A	c.(1276-1278)tcC>tcA	p.S426S		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	426						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CAGACCTTTCCTTAGATAACA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	115	117			NA	NA	10		NA											NA				122626665		2203	4300	6503	SO:0001819	synonymous_variant			AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008	55717	55717		WD repeat domain containing	13831	protein-coding gene	gene with protein product		606417	bromodomain and WD repeat domain containing 2	BRWD2	NA	10718198, 11536051	Standard		NM_018117	NA	Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.1278C>A	10.37:g.122626665C>A		NA	Q5VWA1|Q9P2J6	37	CCDS7619.1																																																																																			WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050707.2		+	ENST00000263461.6	Silent	SNP	10 : 122626665 - 122626665 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	72
VPS26B	112936	broad.mit.edu	37	11	134113076	134113076	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134113076G>A	ENST00000281187.5	+	4	1087	c.609G>A	c.(607-609)aaG>aaA	p.K203K	VPS26B_ENST00000525095.2_Silent_p.K203K|VPS26B_ENST00000530402.1_3'UTR	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	203					protein transport|vacuolar transport	cytosol|retromer complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		TCAAAATCAAGCACATGGAGA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(171;1263 1952 15904 45703 47982)							NA				0													146	124	132			NA	NA	11		NA											NA				134113076		2201	4297	6498	SO:0001819	synonymous_variant				CCDS8495.1	11q25	2008-02-05	2007-01-12		ENSG00000151502	ENSG00000151502	112936	112936			28119	protein-coding gene	gene with protein product		610027	vacuolar protein sorting 26 homolog B (yeast)		NA	16190980	Standard	NM_052875	NM_052875	NA	Approved	MGC10485, Pep8b	uc001qhe.3	Q4G0F5	OTTHUMG00000167175	ENST00000281187.5:c.609G>A	11.37:g.134113076G>A		NA	Q96A55	37	CCDS8495.1																																																																																			VPS26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393591.1		+	ENST00000281187.5	Silent	SNP	11 : 134113076 - 134113076 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	393	57
ASCC1	51008	broad.mit.edu	37	10	73921319	73921319	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73921319C>T	ENST00000342444.4	-	7	788	c.687G>A	c.(685-687)caG>caA	p.Q229Q	ASCC1_ENST00000394915.3_Silent_p.Q229Q|ASCC1_ENST00000317168.6_Silent_p.Q201Q|ASCC1_ENST00000545550.1_Silent_p.Q223Q|ASCC1_ENST00000317126.4_Silent_p.Q201Q|ASCC1_ENST00000394919.1_Silent_p.Q201Q	NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN	activating signal cointegrator 1 complex subunit 1	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	RNA binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						CTTTACACTGCTGTAGCATCT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	140	144			NA	NA	10		NA											NA				73921319		2203	4300	6503	SO:0001819	synonymous_variant			AY013290	CCDS31219.1, CCDS55713.1	10q22.1	2012-09-20			ENSG00000138303	ENSG00000138303	51008	51008			24268	protein-coding gene	gene with protein product		614215			NA	10810093, 12077347	Standard	NM_015947	NM_001198799	NA	Approved	CGI-18, ASC1p50, Em:AC022392.3	uc001jst.2	Q8N9N2	OTTHUMG00000018434	ENST00000342444.4:c.687G>A	10.37:g.73921319C>T		NA	Q5SW06|Q5SW07|Q96EI8|Q9Y307	37	CCDS55713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.008|9.008	0.981892|0.981892	0.18812|0.18812	.|.	.|.	ENSG00000138303|ENSG00000138303	ENST00000486689|ENST00000525286	.|.	.|.	.|.	5.6|5.6	3.72|3.72	0.42706|0.42706	.|.	.|.	.|.	.|.	.|.	T|T	0.59266|0.59266	0.2181|0.2181	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.56559|0.56559	-0.7959|-0.7959	4|4	.|.	.|.	.|.	.|.	9.1805|9.1805	0.37138|0.37138	0.0:0.7674:0.0:0.2326|0.0:0.7674:0.0:0.2326	.|.	.|.	.|.	.|.	T|N	133|98	.|.	.|.	A|S	-|-	1|2	0|0	ASCC1|ASCC1	73591325|73591325	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.962000|0.962000	0.63368|0.63368	2.272000|2.272000	0.43373|0.43373	1.347000|1.347000	0.45714|0.45714	0.655000|0.655000	0.94253|0.94253	GCA|AGC	ASCC1-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048573.2		-	ENST00000342444.4	Silent	SNP	10 : 73921319 - 73921319 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	575	36
C18orf8	29919	broad.mit.edu	37	18	21083650	21083650	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21083650T>C	ENST00000590868.1	+	1	168	c.68T>C	c.(67-69)gTc>gCc	p.V23A	C18orf8_ENST00000269221.3_Missense_Mutation_p.V23A			Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	23										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GCGAACCCTGTCAACTGCGTC	0.741		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	46	46			NA	NA	18		NA											NA				21083650		2203	4300	6503	SO:0001583	missense			AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452	29919	29919			24326	protein-coding gene	gene with protein product	colon cancer associated protein Mic1, macrophage inhibitory cytokine 1				NA	12477932	Standard	NM_013326	NM_013326	NA	Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000590868.1:c.68T>C	18.37:g.21083650T>C	ENSP00000467007:p.Val23Ala	NA	Q9BU17|Q9Y5M0	37		.	.	.	.	.	.	.	.	.	.	T	20.4	3.980534	0.74474	.	.	ENSG00000141452	ENST00000269221;ENST00000540942	T	0.15834	2.39	4.54	3.39	0.38822	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.13841	0.0335	L	0.60455	1.87	0.58432	D	0.999999	B;B	0.24721	0.067;0.11	B;B	0.17433	0.008;0.018	T	0.03619	-1.1019	10	0.07644	T	0.81	-28.803	9.3776	0.38292	0.0:0.0858:0.0:0.9142	.	23;23	Q96DM3;F5H2W0	MIC1_HUMAN;.	A	23	ENSP00000269221:V23A	ENSP00000269221:V23A	V	+	2	0	C18orf8	19337648	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	5.103000	0.64578	1.675000	0.50919	0.460000	0.39030	GTC	C18orf8-004	NOVEL	non_canonical_conserved|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000445389.1		+	ENST00000590868.1	Missense_Mutation	SNP	18 : 21083650 - 21083650 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	463	72
TRH	7200	broad.mit.edu	37	3	129695746	129695746	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129695746G>A	ENST00000507066.1	+	3	548	c.404G>A	c.(403-405)cGg>cAg	p.R135Q	TRH_ENST00000302649.3_Missense_Mutation_p.R139Q			P20396	TRH_HUMAN	thyrotropin-releasing hormone	139					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						CATCCTGGCCGGCGCTCCCCC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(60;321 1330 17401 41911)							NA				0													59	55	57			NA	NA	3		NA											NA				129695746		2203	4300	6503	SO:0001583	missense				CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893	7200	7200		Endogenous ligands	12298	protein-coding gene	gene with protein product	prothyroliberin	613879			NA	2126343, 1900134	Standard	NM_007117	NM_007117	NA	Approved		uc003enc.4	P20396		ENST00000507066.1:c.404G>A	3.37:g.129695746G>A	ENSP00000426522:p.Arg135Gln	NA	B2R8R1|Q2TB83	37		.	.	.	.	.	.	.	.	.	.	G	15.75	2.924578	0.52653	.	.	ENSG00000170893	ENST00000302649;ENST00000507066	T;T	0.51071	0.72;0.72	4.55	2.71	0.32032	.	0.175624	0.48767	D	0.000173	T	0.62816	0.2459	M	0.82323	2.585	0.37560	D	0.919025	D	0.89917	1.0	P	0.62560	0.904	T	0.65721	-0.6099	10	0.59425	D	0.04	-13.5612	6.7371	0.23415	0.1006:0.1783:0.7211:0.0	.	139	P20396	TRH_HUMAN	Q	139;135	ENSP00000303452:R139Q;ENSP00000426522:R135Q	ENSP00000303452:R139Q	R	+	2	0	TRH	131178436	0.974000	0.33945	1.000000	0.80357	0.284000	0.27059	1.012000	0.29924	0.440000	0.26502	0.591000	0.81541	CGG	TRH-002	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000356593.3		+	ENST00000507066.1	Missense_Mutation	SNP	3 : 129695746 - 129695746 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	537	101
NT5DC2	64943	broad.mit.edu	37	3	52558576	52558576	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52558576C>T	ENST00000307076.4	-	14	1873	c.1473G>A	c.(1471-1473)ccG>ccA	p.P491P	NT5DC2_ENST00000307092.4_Silent_p.P432P|NT5DC2_ENST00000422318.2_Silent_p.P528P|NT5DC2_ENST00000459839.1_Silent_p.P503P	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	491				P -> S (in Ref. 2; BAB14064).			hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		CGTGCTGCAGCGGCGTACGGC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	71	72			NA	NA	3		NA											NA				52558576		2203	4300	6503	SO:0001819	synonymous_variant			AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268	64943	64943			25717	protein-coding gene	gene with protein product					NA	8619474, 9110174	Standard	NM_022908	NM_022908	NA	Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.1473G>A	3.37:g.52558576C>T		NA	O95888|Q96C80|Q9H9Z8	37	CCDS2858.1																																																																																			NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351509.1		-	ENST00000307076.4	Silent	SNP	3 : 52558576 - 52558576 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	494	84
RNF152	220441	broad.mit.edu	37	18	59483459	59483459	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:59483459C>T	ENST00000312828.3	-	2	1337	c.238G>A	c.(238-240)Gcc>Acc	p.A80T		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	80					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				TGTGGAATGGCGATGACAGCC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	92	90			NA	NA	18		NA											NA				59483459		2203	4300	6503	SO:0001583	missense			AK096495	CCDS11978.1	18q21.33	2013-01-09			ENSG00000176641	ENSG00000176641	220441	220441		RING-type (C3HC4) zinc fingers	26811	protein-coding gene	gene with protein product					NA		Standard	NM_173557	XM_005266650	NA	Approved	FLJ39176	uc002lih.1	Q8N8N0	OTTHUMG00000132774	ENST00000312828.3:c.238G>A	18.37:g.59483459C>T	ENSP00000316628:p.Ala80Thr	NA	B3KV99|Q52LA4	37	CCDS11978.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163620	0.57476	.	.	ENSG00000176641	ENST00000312828	D	0.83419	-1.72	4.97	4.97	0.65823	.	0.122835	0.53938	D	0.000044	T	0.69895	0.3162	N	0.12182	0.205	0.49213	D	0.999769	B	0.10296	0.003	B	0.04013	0.001	T	0.64462	-0.6402	10	0.13470	T	0.59	-3.2112	18.4187	0.90579	0.0:1.0:0.0:0.0	.	80	Q8N8N0	RN152_HUMAN	T	80	ENSP00000316628:A80T	ENSP00000316628:A80T	A	-	1	0	RNF152	57634439	0.999000	0.42202	0.997000	0.53966	0.898000	0.52572	4.107000	0.57811	2.600000	0.87896	0.655000	0.94253	GCC	RNF152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256180.1		-	ENST00000312828.3	Missense_Mutation	SNP	18 : 59483459 - 59483459 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	399	57
FAM13B	51306	broad.mit.edu	37	5	137289150	137289150	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137289150G>A	ENST00000033079.3	-	15	2108	c.1657C>T	c.(1657-1659)Cga>Tga	p.R553*	FAM13B_ENST00000420893.2_Nonsense_Mutation_p.R553*|FAM13B_ENST00000425075.2_Nonsense_Mutation_p.R457*	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	553					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						GATGATCTTCGAATTCTGAAT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	111	112			NA	NA	5		NA											NA				137289150		2203	4299	6502	SO:0001587	stop_gained			AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003	NA	51306		Rho GTPase activating proteins	1335	protein-coding gene	gene with protein product		609371	chromosome 5 open reading frame 5, family with sequence similarity 13, member B1	C5orf5, FAM13B1	NA	11087669, 11161817	Standard		NM_016603	NA	Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.1657C>T	5.37:g.137289150G>A	ENSP00000033079:p.Arg553*	NA	D3DQB5|Q6PGQ2|Q9P0I7	37	CCDS4195.1	.	.	.	.	.	.	.	.	.	.	G	41	9.156967	0.99084	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	.	.	.	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.9213	13.6288	0.62183	0.0:0.0:0.8451:0.1549	.	.	.	.	X	553;457;553	.	ENSP00000033079:R553X	R	-	1	2	FAM13B	137317049	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.454000	0.52986	2.403000	0.81681	0.585000	0.79938	CGA	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251279.1		-	ENST00000033079.3	Nonsense_Mutation	SNP	5 : 137289150 - 137289150 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	490	103
ZNF135	7694	broad.mit.edu	37	19	58579679	58579679	+	Silent	SNP	C	C	T	rs147006683	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58579679C>T	ENST00000506786.1	+	5	2255	c.1701C>T	c.(1699-1701)caC>caT	p.H567H	ZNF135_ENST00000439855.2_Silent_p.H609H|ZNF135_ENST00000511556.1_Silent_p.H621H|ZNF135_ENST00000401053.4_Silent_p.H633H|ZNF135_ENST00000313434.5_Silent_p.H609H|ZNF135_ENST00000359978.6_Intron			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	621					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		ATGAGTGTCACGATTGCGGAA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	88	90			NA	NA	19		NA											NA				58579679		2203	4300	6503	SO:0001819	synonymous_variant			U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293	7694	7694		Zinc fingers, C2H2-type, -	12919	protein-coding gene	gene with protein product		604077	zinc finger protein 61, zinc finger protein 135 (clone pHZ-17)	ZNF61, ZNF78L1	NA	7557990, 1505991	Standard	NM_003436	NM_003436	NA	Approved	pHZ-17	uc002qrg.3	P52742		ENST00000506786.1:c.1701C>T	19.37:g.58579679C>T		NA		37		.	.	.	.	.	.	.	.	.	.	C	0.007	-1.988039	0.00443	.	.	ENSG00000176293	ENST00000391699	.	.	.	3.37	-1.32	0.09201	.	.	.	.	.	T	0.18383	0.0441	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23833	-1.0177	4	.	.	.	.	0.5468	0.00655	0.3476:0.1854:0.2947:0.1723	.	.	.	.	M	627	.	.	T	+	2	0	ZNF135	63271491	0.000000	0.05858	0.035000	0.18076	0.006000	0.05464	-3.165000	0.00576	-0.025000	0.13918	-1.120000	0.02017	ACG	ZNF135-005	KNOWN	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000361901.2		+	ENST00000506786.1	Silent	SNP	19 : 58579679 - 58579679 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	524	21
EPB41L2	2037	broad.mit.edu	37	6	131276458	131276458	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131276458C>T	ENST00000527411.1	-	3	623		c.e3-1		EPB41L2_ENST00000525271.1_Splice_Site|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000528282.1_Splice_Site|EPB41L2_ENST00000445890.2_Splice_Site|EPB41L2_ENST00000527659.1_Splice_Site|EPB41L2_ENST00000530481.1_Splice_Site|EPB41L2_ENST00000337057.3_Splice_Site|EPB41L2_ENST00000392427.3_Splice_Site|EPB41L2_ENST00000525193.1_Splice_Site|EPB41L2_ENST00000529208.1_Splice_Site|EPB41L2_ENST00000368128.2_Splice_Site			O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	NA					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		ATTCAGTAGGCTGTTGAGGAA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	133	133			NA	NA	6		NA											NA				131276458		2203	4300	6503	SO:0001630	splice_region_variant			AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819	2037	2037			3379	protein-coding gene	gene with protein product		603237			NA	9598318, 9828140	Standard		NM_001431	NA	Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000527411.1:c.493-1G>A	6.37:g.131276458C>T		NA	Q5T4F0	37		.	.	.	.	.	.	.	.	.	.	C	20.2	3.951311	0.73787	.	.	ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208;ENST00000529709	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5197	0.95180	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EPB41L2	131318151	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	5.014000	0.64029	2.713000	0.92767	0.655000	0.94253	.	EPB41L2-018	NOVEL	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000390662.1	Intron	-	ENST00000527411.1	Splice_Site	SNP	6 : 131276458 - 131276458 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	630	103
ACACA	31	broad.mit.edu	37	17	35549147	35549147	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35549147C>T	ENST00000353139.5	-	37	4781	c.4300G>A	c.(4300-4302)Gct>Act	p.A1434T	ACACA_ENST00000335166.5_Missense_Mutation_p.A1319T|ACACA_ENST00000394406.2_Missense_Mutation_p.A1397T|ACACA_ENST00000360679.3_Missense_Mutation_p.A1339T	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1397					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTGTGATTAGCACATGGAATG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)							NA				0													119	96	104			NA	NA	17		NA											NA				35549147		2203	4300	6503	SO:0001583	missense			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	31	31	6.4.1.2		84	protein-coding gene	gene with protein product	acetyl-CoA carboxylase 1	200350	acetyl-Coenzyme A carboxylase alpha	ACAC, ACC	NA		Standard	NM_198836	NM_198837	NA	Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000353139.5:c.4300G>A	17.37:g.35549147C>T	ENSP00000344789:p.Ala1434Thr	NA	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	37	CCDS42302.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338998	0.60963	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.68	5.68	0.88126	Acetyl-CoA carboxylase, central domain (1);	0.103647	0.64402	D	0.000004	T	0.56277	0.1974	M	0.77616	2.38	0.80722	D	1	P;P;B;B	0.40553	0.721;0.624;0.071;0.058	P;P;B;B	0.47864	0.559;0.46;0.039;0.037	T	0.50516	-0.8819	10	0.19590	T	0.45	-13.5938	19.4103	0.94670	0.0:1.0:0.0:0.0	.	145;1434;1397;1339	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	T	1434;1339;1397;1421;1319;145	ENSP00000344789:A1434T;ENSP00000353898:A1339T;ENSP00000377928:A1397T;ENSP00000335323:A1319T	ENSP00000335323:A1319T	A	-	1	0	ACACA	32623260	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.814000	0.86154	2.669000	0.90835	0.650000	0.86243	GCT	ACACA-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256689.1		-	ENST00000353139.5	Missense_Mutation	SNP	17 : 35549147 - 35549147 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	355	49
LHX6	26468	broad.mit.edu	37	9	124979498	124979498	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124979498G>A	ENST00000394319.4	-	5	635	c.531C>T	c.(529-531)cgC>cgT	p.R177R	LHX6_ENST00000373754.2_Silent_p.R148R|LHX6_ENST00000373755.2_Silent_p.R148R|LHX6_ENST00000340587.3_Silent_p.R177R|LHX6_ENST00000559895.1_5'UTR|LHX6_ENST00000541397.2_Silent_p.R166R	NM_014368.4	NP_055183.2	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	148	LIM zinc-binding 2.|Required for interaction with LBD1 (By similarity).				cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)	8						AGGCGTTGCCGCGAGCTCTCC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	56	57			NA	NA	9		NA											NA				124979498		2203	4300	6503	SO:0001819	synonymous_variant			AB031041	CCDS6837.2, CCDS6838.2, CCDS56583.1, CCDS56584.1, CCDS59144.1	9q33.2	2011-06-20			ENSG00000106852	ENSG00000106852	26468	26468		Homeoboxes / LIM class	21735	protein-coding gene	gene with protein product		608215			NA	10393337	Standard	NM_014368	NM_014368	NA	Approved	LHX6.1	uc004blx.4	Q9UPM6	OTTHUMG00000020601	ENST00000394319.4:c.531C>T	9.37:g.124979498G>A		NA	A6PVQ1|A6PVQ2|Q5T7S7|Q5T7S8|Q9NTK3|Q9UPM5	37	CCDS6838.2																																																																																			LHX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053923.3		-	ENST00000394319.4	Silent	SNP	9 : 124979498 - 124979498 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	430	80
ZNF426	79088	broad.mit.edu	37	19	9639635	9639635	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9639635C>T	ENST00000593003.1	-	6	1449	c.972G>A	c.(970-972)aaG>aaA	p.K324K	ZNF426_ENST00000253115.2_Silent_p.K362K|ZNF426_ENST00000535489.1_Silent_p.K362K			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						ATTCATAGGGCTTGTCTCCAC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	92	92			NA	NA	19		NA											NA				9639635		2203	4300	6503	SO:0001819	synonymous_variant			AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818	79088	79088		Zinc fingers, C2H2-type, -	20725	protein-coding gene	gene with protein product					NA		Standard	NM_024106	NM_024106	NA	Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000593003.1:c.972G>A	19.37:g.9639635C>T		NA	B3KTL2	37																																																																																				ZNF426-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000449906.1		-	ENST00000593003.1	Silent	SNP	19 : 9639635 - 9639635 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	71
ALPPL2	251	broad.mit.edu	37	2	233274433	233274433	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233274433G>A	ENST00000295453.3	+	11	1502	c.1450G>A	c.(1450-1452)Gcc>Acc	p.A484T		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	484					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	CATGGCCTTCGCCGCCTGCCT	0.751		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	16	15			NA	NA	2		NA											NA				233274433		2183	4267	6450	SO:0001583	missense			J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286	251	251			441	protein-coding gene	gene with protein product		171810			NA		Standard	NM_031313	NM_031313	NA	Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.1450G>A	2.37:g.233274433G>A	ENSP00000295453:p.Ala484Thr	NA	A8KAF2|Q16727|Q53S81|Q96CM1	37	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	g	15.57	2.873294	0.51695	.	.	ENSG00000163286	ENST00000295453	D	0.97455	-4.39	2.54	1.59	0.23543	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98617	0.9537	H	0.95745	3.715	0.47949	D	0.999555	D	0.89917	1.0	D	0.91635	0.999	D	0.98316	1.0526	10	0.87932	D	0	.	10.0883	0.42432	0.0:0.2075:0.7925:0.0	.	484	P10696	PPBN_HUMAN	T	484	ENSP00000295453:A484T	ENSP00000295453:A484T	A	+	1	0	ALPPL2	232982677	1.000000	0.71417	0.802000	0.32245	0.032000	0.12392	7.116000	0.77119	0.345000	0.23873	0.205000	0.17691	GCC	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257034.2		+	ENST00000295453.3	Missense_Mutation	SNP	2 : 233274433 - 233274433 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	209	54
CYTH3	9265	broad.mit.edu	37	7	6205375	6205375	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6205375T>G	ENST00000350796.3	-	10	1026	c.890A>C	c.(889-891)gAa>gCa	p.E297A	CYTH3_ENST00000396741.2_Missense_Mutation_p.E212A|CYTH3_ENST00000488964.1_5'UTR	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	298	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						TGTTGTGTATTCAAAGTAATA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	74	75			NA	NA	7		NA											NA				6205375		2203	4300	6503	SO:0001583	missense			AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256	9265	9265		Pleckstrin homology (PH) domain containing	9504	protein-coding gene	gene with protein product		605081	pleckstrin homology, Sec7 and coiled-coil domains 3	PSCD3	NA	9072969	Standard	NM_004227	NM_004227	NA	Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.890A>C	7.37:g.6205375T>G	ENSP00000297044:p.Glu297Ala	NA	A4D2N8	37	CCDS5346.1	.	.	.	.	.	.	.	.	.	.	T	31	5.068314	0.93950	.	.	ENSG00000008256	ENST00000350796;ENST00000396741	T;T	0.77098	-1.07;-1.07	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.84960	0.5588	M	0.75085	2.285	0.80722	D	1	P;B	0.43477	0.808;0.323	P;B	0.53689	0.732;0.183	D	0.86719	0.1941	10	0.72032	D	0.01	.	15.1464	0.72657	0.0:0.0:0.0:1.0	.	212;297	B7Z2V9;O43739-2	.;.	A	297;212	ENSP00000297044:E297A;ENSP00000379967:E212A	ENSP00000297044:E297A	E	-	2	0	CYTH3	6171900	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.945000	0.87732	2.057000	0.61298	0.459000	0.35465	GAA	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207396.2		-	ENST00000350796.3	Missense_Mutation	SNP	7 : 6205375 - 6205375 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	355	63
DNAI1	27019	broad.mit.edu	37	9	34506735	34506735	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34506735C>A	ENST00000242317.4	+	13	1345	c.1174C>A	c.(1174-1176)Cac>Aac	p.H392N		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	392					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TCTCGACATCCACGTGGACCA	0.592		NA							Kartagener syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	82	87			NA	NA	9		NA											NA				34506735		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735	27019	27019		Axonemal dyneins, WD repeat domain containing	2954	protein-coding gene	gene with protein product		604366	dynein, axonemal, intermediate polypeptide 1		NA	10577904, 21953912	Standard		NM_012144	NA	Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.1174C>A	9.37:g.34506735C>A	ENSP00000242317:p.His392Asn	NA	Q5T8G7|Q8NHQ7|Q9UEZ8	37	CCDS6557.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820800	0.71028	.	.	ENSG00000122735	ENST00000242317	T	0.69806	-0.43	5.3	5.3	0.74995	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.72228	0.3434	M	0.79805	2.47	0.80722	D	1	B	0.25169	0.119	B	0.34590	0.186	T	0.69643	-0.5090	10	0.31617	T	0.26	.	16.1296	0.81418	0.0:1.0:0.0:0.0	.	392	Q9UI46	DNAI1_HUMAN	N	392	ENSP00000242317:H392N	ENSP00000242317:H392N	H	+	1	0	DNAI1	34496735	1.000000	0.71417	0.953000	0.39169	0.409000	0.31022	7.298000	0.78815	2.478000	0.83669	0.563000	0.77884	CAC	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052192.1		+	ENST00000242317.4	Missense_Mutation	SNP	9 : 34506735 - 34506735 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	405	63
CTSS	1520	broad.mit.edu	37	1	150724344	150724344	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150724344G>A	ENST00000368985.3	-	5	800	c.540C>T	c.(538-540)tgC>tgT	p.C180C	CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Silent_p.C130C	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	180					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			AGCCACCATTGCAGCCTTTGT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													225	200	208			NA	NA	1		NA											NA				150724344		2203	4300	6503	SO:0001819	synonymous_variant			M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	1520	1520	3.4.22.27	Cathepsins	2545	protein-coding gene	gene with protein product		116845			NA	1373132	Standard	NM_004079	NM_001199739	NA	Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.540C>T	1.37:g.150724344G>A		NA	D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	37	CCDS968.1																																																																																			CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084737.1		-	ENST00000368985.3	Silent	SNP	1 : 150724344 - 150724344 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	776	124
THSD1	55901	broad.mit.edu	37	13	52952422	52952422	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52952422G>A	ENST00000349258.4	-	4	2068	c.1524C>T	c.(1522-1524)gaC>gaT	p.D508D	THSD1_ENST00000258613.4_Silent_p.D561D|THSD1_ENST00000544466.1_Silent_p.D182D	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	561						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CAATGGCAGTGTCTGTCAGGG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	100	98			NA	NA	13		NA											NA				52952422		2203	4300	6503	SO:0001819	synonymous_variant			AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114	55901	55901			17754	protein-coding gene	gene with protein product			thrombospondin, type I, domain 1		NA		Standard		NM_018676	NA	Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000349258.4:c.1524C>T	13.37:g.52952422G>A		NA	A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	37	CCDS9433.1																																																																																			THSD1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276383.1		-	ENST00000349258.4	Silent	SNP	13 : 52952422 - 52952422 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	981	85
FKBP8	23770	broad.mit.edu	37	19	18648447	18648447	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18648447C>T	ENST00000608443.1	-	6	1108	c.909G>A	c.(907-909)caG>caA	p.Q303Q	FKBP8_ENST00000222308.4_Silent_p.Q302Q|FKBP8_ENST00000597960.3_Silent_p.Q303Q|FKBP8_ENST00000596558.2_Silent_p.Q302Q|FKBP8_ENST00000453489.2_Silent_p.Q331Q|FKBP8_ENST00000610101.1_Silent_p.Q143Q			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	NA					apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						TGTTGTCTGGCTGGTGCTCCA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	50	54			NA	NA	19		NA											NA				18648447		2203	4300	6503	SO:0001819	synonymous_variant			L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701	23770	23770		Tetratricopeptide (TTC) repeat domain containing	3724	protein-coding gene	gene with protein product	FK506-binding protein 8 (38kD)	604840	FK506-binding protein 8 (38kD)		NA	7543869	Standard	NM_012181	NM_012181	NA	Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000608443.1:c.909G>A	19.37:g.18648447C>T		NA	Q53GU3|Q7Z349|Q86YK6	37	CCDS32961.1																																																																																			FKBP8-014	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000471638.1		-	ENST00000608443.1	Silent	SNP	19 : 18648447 - 18648447 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	281	22
FTSJ1	24140	broad.mit.edu	37	X	48340860	48340860	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48340860G>T	ENST00000019019.2	+	11	1148	c.719G>T	c.(718-720)aGc>aTc	p.S240I	FTSJ1_ENST00000396894.4_Missense_Mutation_p.S105I|FTSJ1_ENST00000348411.2_Missense_Mutation_p.S242I|FTSJ1_ENST00000456787.1_Missense_Mutation_p.S240I|FTSJ1_ENST00000496365.1_3'UTR	NM_177439.1	NP_803188.1	Q9UET6	RRMJ1_HUMAN	FtsJ RNA methyltransferase homolog 1 (E. coli)	242					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						GGGGACCTGAGCTCCTATGAT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	89	104			NA	NA	X		NA											NA				48340860		2203	4300	6503	SO:0001583	missense			AJ005892	CCDS14294.1, CCDS14295.1, CCDS75972.1	Xp11.23	2012-06-12	2012-06-12		ENSG00000068438	ENSG00000068438	24140	24140			13254	protein-coding gene	gene with protein product	tRNA methyltransferase 7 homolog (S. cerevisiae)	300499	mental retardation, X-linked 9, mental retardation, X-linked 44	MRX9, MRX44	NA	15342698, 15162322	Standard		XR_246715	NA	Approved	JM23, CDLIV, SPB1, TRM7, TRMT7	uc004djo.1	Q9UET6	OTTHUMG00000024118	ENST00000019019.2:c.719G>T	X.37:g.48340860G>T	ENSP00000019019:p.Ser240Ile	NA	B2RCJ0|O75670	37	CCDS14295.1	.	.	.	.	.	.	.	.	.	.	g	17.56	3.419145	0.62622	.	.	ENSG00000068438	ENST00000019019;ENST00000348411;ENST00000396894;ENST00000456787	T;T;T	0.50813	0.73;0.73;0.73	5.37	3.6	0.41247	.	0.000000	0.85682	D	0.000000	T	0.68622	0.3021	M	0.90759	3.145	0.45930	D	0.998761	D;D;D;P	0.67145	0.996;0.968;0.981;0.672	D;P;D;B	0.66351	0.943;0.753;0.914;0.313	T	0.69942	-0.5008	10	0.72032	D	0.01	-20.688	7.8376	0.29378	0.1976:0.0:0.8024:0.0	.	105;242;240;240	B7Z4K4;Q9UET6;Q9UET6-2;B3KN91	.;RRMJ1_HUMAN;.;.	I	240;242;105;240	ENSP00000019019:S240I;ENSP00000326948:S242I;ENSP00000415457:S240I	ENSP00000019019:S240I	S	+	2	0	FTSJ1	48225804	1.000000	0.71417	0.469000	0.27204	0.599000	0.36880	8.320000	0.89995	0.583000	0.29574	0.507000	0.49892	AGC	FTSJ1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060727.1		+	ENST00000019019.2	Missense_Mutation	SNP	X : 48340860 - 48340860 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	128	40
PBRM1	55193	broad.mit.edu	37	3	52620542	52620542	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52620542G>A	ENST00000409114.3	-	21	3333	c.3331C>T	c.(3331-3333)Cgc>Tgc	p.R1111C	PBRM1_ENST00000409767.1_Missense_Mutation_p.R1111C|PBRM1_ENST00000409057.1_Missense_Mutation_p.R1096C|PBRM1_ENST00000337303.4_Missense_Mutation_p.R1096C|PBRM1_ENST00000296302.7_Missense_Mutation_p.R1096C|PBRM1_ENST00000356770.4_Missense_Mutation_p.R1064C|PBRM1_ENST00000410007.1_Missense_Mutation_p.R1071C|PBRM1_ENST00000394830.3_Missense_Mutation_p.R1071C			Q86U86	PB1_HUMAN	polybromo 1	1096					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GAGGCCACGCGAACCACAGGC	0.438		NA	Mis, N, F, S, D, O		clear cell renal carcinoma, breast									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		3	3p21	55193	polybromo 1		E	0													113	111	112			NA	NA	3		NA											NA				52620542		2203	4300	6503	SO:0001583	missense			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939	55193	55193			30064	protein-coding gene	gene with protein product		606083			NA	11078522, 11483580	Standard	NM_018165	NM_018313	NA	Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000409114.3:c.3331C>T	3.37:g.52620542G>A	ENSP00000386643:p.Arg1111Cys	NA	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	37		.	.	.	.	.	.	.	.	.	.	G	19.01	3.743073	0.69418	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.52754	0.8;0.68;0.83;0.83;0.81;0.71;1.27;0.84;0.8;0.65	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.64238	0.2580	L	0.52905	1.665	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.85130	0.997;0.995;0.992;0.995;0.989;0.997;0.995;0.995;0.993	T	0.66803	-0.5831	10	0.87932	D	0	-27.3744	15.1515	0.72703	0.0:0.0:0.8583:0.1417	.	1071;1095;1071;1096;1111;1111;1096;1064;1096	Q86U86-9;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	C	1064;1071;1096;1096;1096;1071;1111;1111;1095;1054	ENSP00000349213:R1064C;ENSP00000378307:R1071C;ENSP00000296302:R1096C;ENSP00000338302:R1096C;ENSP00000386593:R1096C;ENSP00000386529:R1071C;ENSP00000386643:R1111C;ENSP00000386601:R1111C;ENSP00000387775:R1095C;ENSP00000397662:R1054C	ENSP00000296302:R1096C	R	-	1	0	PBRM1	52595582	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.608000	0.74168	2.493000	0.84123	0.555000	0.69702	CGC	PBRM1-006	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000327230.1		-	ENST00000409114.3	Missense_Mutation	SNP	3 : 52620542 - 52620542 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	637	133
MAGEC3	139081	broad.mit.edu	37	X	140985426	140985426	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140985426G>A	ENST00000409007.1	+	2	1098	c.988G>A	c.(988-990)Gcc>Acc	p.A330T	MAGEC3_ENST00000544766.1_Missense_Mutation_p.A330T|MAGEC3_ENST00000443323.2_Missense_Mutation_p.A250T|MAGEC3_ENST00000536088.1_Missense_Mutation_p.A330T|MAGEC3_ENST00000298296.1_Silent_p.R580R			Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	46	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCATTCAGAGGCCAGCAAGAG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	69	69			NA	NA	X		NA											NA				140985426		2203	4300	6503	SO:0001583	missense			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509	139081	139081			23798	protein-coding gene	gene with protein product	cancer/testis antigen family 7, member 2	300469			NA	10861452	Standard	NM_138702	NM_138702	NA	Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000409007.1:c.988G>A	X.37:g.140985426G>A	ENSP00000386566:p.Ala330Thr	NA	Q5JZ43|Q9BZ80	37	CCDS14677.1	.	.	.	.	.	.	.	.	.	.	g	0.007	-2.000581	0.00431	.	.	ENSG00000165509	ENST00000536088;ENST00000443323;ENST00000544766;ENST00000409007	T;T;T;T	0.03951	3.75;3.75;3.75;3.75	1.25	-0.779	0.10973	.	.	.	.	.	T	0.01592	0.0051	.	.	.	0.09310	N	1	B	0.25441	0.126	B	0.23275	0.045	T	0.44742	-0.9308	8	0.02654	T	1	.	3.1264	0.06408	0.6987:0.0:0.3013:0.0	.	330	Q3SYA7	.	T	330;250;330;330	ENSP00000441107:A330T;ENSP00000438254:A250T;ENSP00000440444:A330T;ENSP00000386566:A330T	ENSP00000386566:A330T	A	+	1	0	MAGEC3	140813092	0.002000	0.14202	0.038000	0.18304	0.018000	0.09664	0.015000	0.13355	-0.094000	0.12374	-0.739000	0.03532	GCC	MAGEC3-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331592.1		+	ENST00000409007.1	Missense_Mutation	SNP	X : 140985426 - 140985426 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	461	128
PXDN	7837	broad.mit.edu	37	2	1653036	1653036	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1653036G>A	ENST00000252804.4	-	17	2566	c.2516C>T	c.(2515-2517)gCa>gTa	p.A839V		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	839					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGAGAAGCGTGCCTGGCTCAG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	42	41			NA	NA	2		NA											NA				1653036		2196	4284	6480	SO:0001583	missense			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508	7837	7837		Immunoglobulin superfamily / I-set domain containing	14966	protein-coding gene	gene with protein product		605158			NA	10441517, 9039502	Standard	XM_056455	XM_005264707	NA	Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2516C>T	2.37:g.1653036G>A	ENSP00000252804:p.Ala839Val	NA	A8QM65|D6W4Y0|Q4KMG2	37	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351801	0.61183	.	.	ENSG00000130508	ENST00000252804	T	0.61392	0.11	5.18	4.28	0.50868	.	0.128490	0.53938	D	0.000048	T	0.51075	0.1653	L	0.41027	1.25	0.53005	D	0.999967	B	0.19445	0.036	B	0.31614	0.133	T	0.42361	-0.9456	10	0.18276	T	0.48	-36.1755	15.2212	0.73313	0.0:0.0:0.8581:0.1419	.	839	Q92626	PXDN_HUMAN	V	839	ENSP00000252804:A839V	ENSP00000252804:A839V	A	-	2	0	PXDN	1632043	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	7.797000	0.85911	1.276000	0.44395	0.558000	0.71614	GCA	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322505.1		-	ENST00000252804.4	Missense_Mutation	SNP	2 : 1653036 - 1653036 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	174	45
OBSCN	84033	broad.mit.edu	37	1	228462512	228462512	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228462512G>A	ENST00000570156.2	+	24	7122	c.7048G>A	c.(7048-7050)Gcc>Acc	p.A2350T	OBSCN_ENST00000284548.11_Missense_Mutation_p.A1975T|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.A1975T|OBSCN_ENST00000359599.6_Missense_Mutation_p.A822T|OBSCN_ENST00000366707.4_5'UTR|RP5-1139B12.3_ENST00000602529.1_RNA	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1335	Ig-like 23.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCTGAGGGCGCCTCATCCTC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	29	28			NA	NA	1		NA											NA				228462512		2125	4242	6367	SO:0001583	missense			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358	84033	84033		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	15719	protein-coding gene	gene with protein product		608616			NA	11448995, 11814696	Standard	NM_052843	NM_001098623	NA	Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000570156.2:c.7048G>A	1.37:g.228462512G>A	ENSP00000455507:p.Ala2350Thr	NA	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	37	CCDS59204.1	.	.	.	.	.	.	.	.	.	.	G	9.509	1.105255	0.20632	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.67171	-0.25;-0.25;-0.25	5.49	4.53	0.55603	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.455816	0.21586	N	0.072167	T	0.54191	0.1843	L	0.37561	1.115	0.18873	N	0.999987	D;D	0.63880	0.958;0.993	B;B	0.44044	0.353;0.439	T	0.43556	-0.9384	10	0.14252	T	0.57	.	10.1739	0.42927	0.1597:0.0:0.8403:0.0	.	1975;1975	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	T	1975;1975;822	ENSP00000284548:A1975T;ENSP00000409493:A1975T;ENSP00000352613:A822T	ENSP00000284548:A1975T	A	+	1	0	OBSCN	226529135	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	0.508000	0.22692	1.213000	0.43380	0.555000	0.69702	GCC	OBSCN-011	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421354.3		+	ENST00000570156.2	Missense_Mutation	SNP	1 : 228462512 - 228462512 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	98	21
HAS1	3036	broad.mit.edu	37	19	52216735	52216735	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52216735A>G	ENST00000540069.2	-	5	1739	c.1679T>C	c.(1678-1680)gTg>gCg	p.V560A	HAS1_ENST00000601714.1_Missense_Mutation_p.V568A|HAS1_ENST00000222115.1_Missense_Mutation_p.V561A			Q92839	HAS1_HUMAN	hyaluronan synthase 1	561					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCGCACGCCCACCCAGTACAG	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(132;636 2450 45807 47979)							NA				0													12	14	13			NA	NA	19		NA											NA				52216735		2168	4264	6432	SO:0001583	missense			U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	3036	3036	2.4.1.212	Glycosyltransferase family 2 domain containing	4818	protein-coding gene	gene with protein product		601463		HAS	NA	9169154	Standard	NM_001523	XM_005258834	NA	Approved		uc002pxo.1	Q92839		ENST00000540069.2:c.1679T>C	19.37:g.52216735A>G	ENSP00000445021:p.Val560Ala	NA	Q14470|Q9NS49	37		.	.	.	.	.	.	.	.	.	.	a	8.664	0.901231	0.17760	.	.	ENSG00000105509	ENST00000540069;ENST00000222115	T;T	0.31769	1.49;1.48	3.25	2.1	0.27182	.	0.402692	0.21754	U	0.069627	T	0.16685	0.0401	N	0.21282	0.65	0.24831	N	0.992526	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.06405	0.002;0.001;0.001	T	0.15607	-1.0431	10	0.20046	T	0.44	-16.5581	7.6722	0.28465	0.7877:0.2123:0.0:0.0	.	560;561;560	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	A	560;561	ENSP00000445021:V560A;ENSP00000222115:V561A	ENSP00000222115:V561A	V	-	2	0	HAS1	56908547	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	5.442000	0.66575	1.484000	0.48361	0.147000	0.16070	GTG	HAS1-001	NOVEL	NAGNAG_splice_site|basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000466902.2		-	ENST00000540069.2	Missense_Mutation	SNP	19 : 52216735 - 52216735 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	148	12
NEUROD1	4760	broad.mit.edu	37	2	182542881	182542881	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182542881C>T	ENST00000295108.3	-	2	1164	c.707G>A	c.(706-708)aGc>aAc	p.S236N	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	236					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GACATGGGAGCTGTCCATGGT	0.627		NA									OREG0005604	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=NEUROD1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	68	66			NA	NA	2		NA											NA				182542881		2203	4300	6503	SO:0001583	missense			U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992	4760	4760		Basic helix-loop-helix proteins	7762	protein-coding gene	gene with protein product	beta-cell E-box transactivator 2, neurogenic helix-loop-helix protein NEUROD	601724	neurogenic differentiation 1	NEUROD	NA	7754368, 8786144	Standard	NM_002500	NM_002500	NA	Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.707G>A	2.37:g.182542881C>T	ENSP00000295108:p.Ser236Asn	1977	B2R9I8|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	37	CCDS2283.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.841010	0.32513	.	.	ENSG00000162992	ENST00000295108	T	0.65364	-0.15	6.02	6.02	0.97574	Neurogenic differentiation factor, domain of unknown function (1);	0.130034	0.64402	D	0.000002	T	0.52853	0.1760	L	0.31420	0.93	0.47123	D	0.999328	B	0.32968	0.392	B	0.33960	0.173	T	0.45659	-0.9246	10	0.18276	T	0.48	-24.2673	19.1109	0.93315	0.0:1.0:0.0:0.0	.	236	Q13562	NDF1_HUMAN	N	236	ENSP00000295108:S236N	ENSP00000295108:S236N	S	-	2	0	NEUROD1	182251126	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.688000	0.46984	2.850000	0.98022	0.650000	0.86243	AGC	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255792.2		-	ENST00000295108.3	Missense_Mutation	SNP	2 : 182542881 - 182542881 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	722	118
GFAP	2670	broad.mit.edu	37	17	42992761	42992761	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42992761C>T	ENST00000253408.5	-	1	159	c.94G>A	c.(94-96)Ggt>Agt	p.G32S	GFAP_ENST00000586793.1_Missense_Mutation_p.G32S|GFAP_ENST00000435360.2_Missense_Mutation_p.G32S|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000588735.1_Intron	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	32	Head.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				GTGCCAGGACCCAGACGGCGG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	20	19			NA	NA	17		NA											NA				42992761		2201	4298	6499	SO:0001583	missense			S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16					2670	2670		Intermediate filaments type III	4235	protein-coding gene	gene with protein product	intermediate filament protein	137780			NA	9693047	Standard	NM_002055	NM_002055	NA	Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.94G>A	17.37:g.42992761C>T	ENSP00000253408:p.Gly32Ser	NA	B2RD44|D3DX59|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	37	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439931	0.43326	.	.	ENSG00000131095	ENST00000253408;ENST00000435360;ENST00000376990	D;D;T	0.86030	-2.06;-2.01;-1.42	4.82	3.85	0.44370	.	0.358527	0.29565	N	0.011784	T	0.72622	0.3483	N	0.19112	0.55	0.09310	N	0.999992	B;B	0.13594	0.008;0.001	B;B	0.12837	0.008;0.001	T	0.61143	-0.7122	10	0.38643	T	0.18	.	8.3497	0.32295	0.0:0.758:0.1563:0.0857	.	32;32	E9PAX3;P14136	.;GFAP_HUMAN	S	32	ENSP00000253408:G32S;ENSP00000403962:G32S;ENSP00000366189:G32S	ENSP00000253408:G32S	G	-	1	0	GFAP	40348287	0.002000	0.14202	0.072000	0.20136	0.884000	0.51177	1.437000	0.34991	1.401000	0.46761	0.561000	0.74099	GGT	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448701.1		-	ENST00000253408.5	Missense_Mutation	SNP	17 : 42992761 - 42992761 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	177	23
OR51Q1	390061	broad.mit.edu	37	11	5444251	5444251	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5444251T>C	ENST00000300778.4	+	1	911	c.821T>C	c.(820-822)gTc>gCc	p.V274A	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTCCACTGGTCCATGTTATC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	100	106			NA	NA	11		NA											NA				5444251		2201	4297	6498	SO:0001583	missense			AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360	390061	390061		GPCR / Class A : Olfactory receptors	14851	protein-coding gene	gene with protein product			olfactory receptor, family 51, subfamily Q, member 1		NA		Standard	NM_001004757	NM_001004757	NA	Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.821T>C	11.37:g.5444251T>C	ENSP00000300778:p.Val274Ala	NA	B2RNN1	37	CCDS31381.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.843174	0.51057	.	.	ENSG00000167360	ENST00000300778	T	0.00099	8.73	4.89	4.89	0.63831	GPCR, rhodopsin-like superfamily (1);	0.123758	0.36444	N	0.002588	T	0.00384	0.0012	L	0.60012	1.86	0.24171	N	0.995622	D	0.89917	1.0	D	0.85130	0.997	T	0.58329	-0.7655	10	0.54805	T	0.06	.	13.606	0.62048	0.0:0.0:0.0:1.0	.	274	Q8NH59	O51Q1_HUMAN	A	274	ENSP00000300778:V274A	ENSP00000300778:V274A	V	+	2	0	OR51Q1	5400827	0.002000	0.14202	1.000000	0.80357	0.866000	0.49608	1.311000	0.33562	2.089000	0.63090	0.311000	0.20440	GTC	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000143373.1		+	ENST00000300778.4	Missense_Mutation	SNP	11 : 5444251 - 5444251 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	465	22
AMPH	273	broad.mit.edu	37	7	38543262	38543262	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:38543262C>A	ENST00000356264.2	-	3	408	c.193G>T	c.(193-195)Gca>Tca	p.A65S	AMPH_ENST00000325590.5_Missense_Mutation_p.A65S|AMPH_ENST00000428293.2_Missense_Mutation_p.A65S	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	65	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TTGATTGCTGCTAAATATCCT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													229	191	204			NA	NA	7		NA											NA				38543262		2203	4300	6503	SO:0001583	missense				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053	273	273			471	protein-coding gene	gene with protein product		600418	amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen), amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)		NA	8245793	Standard	NM_001635	NM_139316	NA	Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.193G>T	7.37:g.38543262C>A	ENSP00000348602:p.Ala65Ser	NA	A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	37	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.089838	0.55968	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000544070	T;T;T	0.62639	0.01;0.01;0.01	5.92	5.04	0.67666	BAR (3);	0.184681	0.47455	D	0.000226	T	0.57051	0.2027	L	0.36672	1.1	0.44485	D	0.997425	B;B	0.25850	0.054;0.136	B;B	0.39531	0.139;0.302	T	0.50516	-0.8819	10	0.15499	T	0.54	-13.998	12.5297	0.56106	0.0:0.9217:0.0:0.0783	.	65;65	P49418-2;P49418	.;AMPH_HUMAN	S	65	ENSP00000317441:A65S;ENSP00000348602:A65S;ENSP00000390734:A65S	ENSP00000317441:A65S	A	-	1	0	AMPH	38509787	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.150000	0.50662	1.513000	0.48852	0.655000	0.94253	GCA	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226953.2		-	ENST00000356264.2	Missense_Mutation	SNP	7 : 38543262 - 38543262 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	534	36
DVL1	1855	broad.mit.edu	37	1	1271751	1271751	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1271751G>A	ENST00000378888.5	-	15	2143	c.1859C>T	c.(1858-1860)cCg>cTg	p.P620L	DVL1_ENST00000378891.5_Missense_Mutation_p.P595L			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	620					canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTGGCCGGCCGGACGCTCTCG	0.731		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	12	11			NA	NA	1		NA											NA				1271751		1932	3905	5837	SO:0001583	missense			AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404	1855	1855		Dishevelled homologs	3084	protein-coding gene	gene with protein product		601365	dishevelled 1 (homologous to Drosophila dsh), dishevelled, dsh homolog 1 (Drosophila)		NA	8817329	Standard	NM_004421	NM_004421	NA	Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.1859C>T	1.37:g.1271751G>A	ENSP00000368166:p.Pro620Leu	NA	Q5TA33|Q5TA35	37		.	.	.	.	.	.	.	.	.	.	G	13.78	2.338007	0.41398	.	.	ENSG00000107404	ENST00000378891;ENST00000378888;ENST00000345100;ENST00000263743	T;T	0.05319	3.46;3.48	4.7	4.7	0.59300	Dishevelled C-terminal (1);	0.187522	0.47852	D	0.000217	T	0.27384	0.0672	M	0.79123	2.44	0.80722	D	1	D;D;D	0.89917	1.0;0.982;0.977	D;P;P	0.83275	0.996;0.765;0.654	T	0.01345	-1.1379	10	0.56958	D	0.05	.	18.2311	0.89934	0.0:0.0:1.0:0.0	.	278;620;595	G3XA93;O14640;O14640-2	.;DVL1_HUMAN;.	L	595;620;369;278	ENSP00000368169:P595L;ENSP00000368166:P620L	ENSP00000263743:P278L	P	-	2	0	DVL1	1261614	1.000000	0.71417	0.838000	0.33150	0.089000	0.18198	8.445000	0.90326	2.607000	0.88179	0.555000	0.69702	CCG	DVL1-004	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000008490.1		-	ENST00000378888.5	Missense_Mutation	SNP	1 : 1271751 - 1271751 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	179	31
DCHS2	54798	broad.mit.edu	37	4	155157313	155157313	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155157313T>G	ENST00000357232.4	-	25	7125	c.7126A>C	c.(7126-7128)Aca>Cca	p.T2376P		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	NA	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATATCCCCTGTCAAAGGGTCA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	89	92			NA	NA	4		NA											NA				155157313		2203	4300	6503	SO:0001583	missense			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410	54798	54798		Cadherins / Cadherin-related	23111	protein-coding gene	gene with protein product	cadherin-related family member 7	612486	cadherin-like 27, dachsous 2 (Drosophila)	CDH27, PCDH23	NA	15003449	Standard	NM_001142552	NM_017639	NA	Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7126A>C	4.37:g.155157313T>G	ENSP00000349768:p.Thr2376Pro	NA	Q4W5P9|Q6ZS61|Q9NXU8	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	T	16.88	3.244831	0.59103	.	.	ENSG00000197410	ENST00000357232	T	0.56275	0.47	5.6	4.41	0.53225	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000001	T	0.81029	0.4738	H	0.97415	4	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85767	0.1353	10	0.59425	D	0.04	.	12.3787	0.55295	0.1262:0.0:0.0:0.8737	.	2376	Q6V1P9	PCD23_HUMAN	P	2376	ENSP00000349768:T2376P	ENSP00000349768:T2376P	T	-	1	0	DCHS2	155376763	1.000000	0.71417	0.418000	0.26571	0.755000	0.42902	4.059000	0.57470	1.038000	0.40049	0.460000	0.39030	ACA	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365281.2		-	ENST00000357232.4	Missense_Mutation	SNP	4 : 155157313 - 155157313 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	569	57
NDST4	64579	broad.mit.edu	37	4	115769425	115769425	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:115769425G>C	ENST00000264363.2	-	9	2564	c.1886C>G	c.(1885-1887)aCa>aGa	p.T629R		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	629	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTCCTCAAATGTCTTTGGACT	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	141	143			NA	NA	4		NA											NA				115769425		2203	4300	6503	SO:0001583	missense			AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653	64579	64579		Sulfotransferases, membrane-bound	20779	protein-coding gene	gene with protein product		615039			NA	11087757	Standard	NM_022569	NM_022569	NA	Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1886C>G	4.37:g.115769425G>C	ENSP00000264363:p.Thr629Arg	NA		37	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416859	0.83449	.	.	ENSG00000138653	ENST00000264363	D	0.82344	-1.6	5.71	5.71	0.89125	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.91885	0.7431	M	0.81802	2.56	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.92289	0.5840	10	0.87932	D	0	.	19.8579	0.96771	0.0:0.0:1.0:0.0	.	629	Q9H3R1	NDST4_HUMAN	R	629	ENSP00000264363:T629R	ENSP00000264363:T629R	T	-	2	0	NDST4	115988874	1.000000	0.71417	0.932000	0.37286	0.902000	0.53008	9.406000	0.97321	2.687000	0.91594	0.655000	0.94253	ACA	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256427.1		-	ENST00000264363.2	Missense_Mutation	SNP	4 : 115769425 - 115769425 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	406	86
SIK2	23235	broad.mit.edu	37	11	111574013	111574013	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111574013C>A	ENST00000304987.3	+	7	987	c.814C>A	c.(814-816)Ctc>Atc	p.L272I		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	272					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						TAAATGGATGCTCATAGAAGT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	103	108			NA	NA	11		NA											NA				111574013		2201	4297	6498	SO:0001583	missense			AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145	23235	23235			21680	protein-coding gene	gene with protein product		608973	SNF1-like kinase 2	SNF1LK2	NA	15067358	Standard	NM_015191	NM_015191	NA	Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.814C>A	11.37:g.111574013C>A	ENSP00000305976:p.Leu272Ile	NA	B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	37	CCDS8347.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250836	0.39797	.	.	ENSG00000170145	ENST00000304987	T	0.25250	1.81	5.57	4.65	0.58169	Protein kinase-like domain (1);	0.215894	0.42548	D	0.000682	T	0.16685	0.0401	L	0.40543	1.245	0.43091	D	0.994769	B	0.33135	0.399	B	0.25614	0.062	T	0.04427	-1.0952	10	0.22109	T	0.4	.	8.6612	0.34093	0.1483:0.7728:0.0:0.0789	.	272	Q9H0K1	SIK2_HUMAN	I	272	ENSP00000305976:L272I	ENSP00000305976:L272I	L	+	1	0	SIK2	111079223	1.000000	0.71417	0.998000	0.56505	0.889000	0.51656	1.535000	0.36061	2.627000	0.88993	0.557000	0.71058	CTC	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319352.3		+	ENST00000304987.3	Missense_Mutation	SNP	11 : 111574013 - 111574013 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	297	66
FAM192A	80011	broad.mit.edu	37	16	57188214	57188214	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57188214G>A	ENST00000566077.1	-	7	906	c.522C>T	c.(520-522)ctC>ctT	p.L174L	FAM192A_ENST00000567439.1_Silent_p.L251L|FAM192A_ENST00000569266.1_Silent_p.L251L|FAM192A_ENST00000564108.1_Silent_p.L251L|FAM192A_ENST00000309137.8_Silent_p.L251L|FAM192A_ENST00000389447.5_Silent_p.L251L			Q9GZU8	F192A_HUMAN	family with sequence similarity 192, member A	251						nucleus				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						AGGGGGCCTCGAGGAAGGTGT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	66	62			NA	NA	16		NA											NA				57188214		1967	4143	6110	SO:0001819	synonymous_variant				CCDS42168.1	16q13	2009-08-19	2009-08-19	2009-08-19		ENSG00000172775	80011	80011			29856	protein-coding gene	gene with protein product	NEFA interacting nuclear protein NIP30		chromosome 16 open reading frame 94	C16orf94	NA	12477932	Standard	NM_024946	NM_024946	NA	Approved	NIP30	uc021tiy.1	Q9GZU8		ENST00000566077.1:c.522C>T	16.37:g.57188214G>A		NA		37																																																																																				FAM192A-013	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000433135.1		-	ENST00000566077.1	Silent	SNP	16 : 57188214 - 57188214 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	211	31
UBE4A	9354	broad.mit.edu	37	11	118263583	118263583	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118263583G>A	ENST00000252108.3	+	19	3178	c.3047G>A	c.(3046-3048)aGa>aAa	p.R1016K	UBE4A_ENST00000431736.2_Missense_Mutation_p.R1023K|UBE4A_ENST00000545354.1_Missense_Mutation_p.R488K	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	1016	U-box.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		ACTGTGGATAGATCCACCATT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	148	153			NA	NA	11		NA											NA				118263583		2200	4296	6496	SO:0001583	missense			D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19				9354	9354		U-box domain containing	12499	protein-coding gene	gene with protein product		603753	ubiquitination factor E4A (homologous to yeast UFD2), ubiquitination factor E4A (UFD2 homolog, yeast)		NA	10089879	Standard	NM_004788	NM_004788	NA	Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000252108.3:c.3047G>A	11.37:g.118263583G>A	ENSP00000252108:p.Arg1016Lys	NA	B0YJB6|Q2M1H0|Q6P5T4|Q7Z639	37	CCDS55790.1	.	.	.	.	.	.	.	.	.	.	G	36	5.884896	0.97068	.	.	ENSG00000110344	ENST00000252108;ENST00000431736;ENST00000545354	T;T	0.68181	-0.27;-0.31	5.92	5.92	0.95590	Zinc finger, RING/FYVE/PHD-type (1);U box domain (2);	0.000000	0.85682	D	0.000000	T	0.79569	0.4468	M	0.82823	2.61	0.80722	D	1	P;D	0.52996	0.926;0.957	P;P	0.51866	0.682;0.6	T	0.80625	-0.1299	10	0.52906	T	0.07	-8.8278	20.3734	0.98896	0.0:0.0:1.0:0.0	.	1016;1023	Q14139;Q14139-2	UBE4A_HUMAN;.	K	1016;1023;488	ENSP00000252108:R1016K;ENSP00000387362:R1023K	ENSP00000252108:R1016K	R	+	2	0	UBE4A	117768793	1.000000	0.71417	0.910000	0.35882	0.996000	0.88848	9.869000	0.99810	2.820000	0.97059	0.650000	0.86243	AGA	UBE4A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398142.1		+	ENST00000252108.3	Missense_Mutation	SNP	11 : 118263583 - 118263583 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	645	113
NPM3	10360	broad.mit.edu	37	10	103542239	103542239	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103542239G>A	ENST00000370110.5	-	3	342	c.320C>T	c.(319-321)cCc>cTc	p.P107L	NPM3_ENST00000474993.1_5'UTR	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN	nucleophosmin/nucleoplasmin 3	107							nucleic acid binding			large_intestine(3)|lung(1)|skin(1)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		ACTCACCATGGGTTGGCAGGA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	119	124			NA	NA	10		NA											NA				103542239		2203	4300	6503	SO:0001583	missense			AY049737	CCDS7519.1	10q24.31	2009-08-27	2009-08-27		ENSG00000107833	ENSG00000107833	10360	10360			7931	protein-coding gene	gene with protein product		606456			NA	11722795	Standard	NM_006993	NM_006993	NA	Approved		uc001ktt.3	O75607	OTTHUMG00000018942	ENST00000370110.5:c.320C>T	10.37:g.103542239G>A	ENSP00000359128:p.Pro107Leu	NA	Q9UNY6	37	CCDS7519.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633242	0.87660	.	.	ENSG00000107833	ENST00000370110	T	0.53423	0.62	5.45	5.45	0.79879	Nucleoplasmin core (2);	0.000000	0.85682	D	0.000000	T	0.44973	0.1319	L	0.39245	1.2	0.80722	D	1	P	0.34757	0.467	B	0.36719	0.231	T	0.47262	-0.9131	10	0.66056	D	0.02	-27.2961	17.4687	0.87639	0.0:0.0:1.0:0.0	.	107	O75607	NPM3_HUMAN	L	107	ENSP00000359128:P107L	ENSP00000359128:P107L	P	-	2	0	NPM3	103532229	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.433000	0.90291	2.556000	0.86216	0.650000	0.86243	CCC	NPM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050003.2		-	ENST00000370110.5	Missense_Mutation	SNP	10 : 103542239 - 103542239 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	89	16
YIPF2	78992	broad.mit.edu	37	19	11034236	11034236	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11034236G>T	ENST00000590329.1	-	7	756	c.652C>A	c.(652-654)Ctg>Atg	p.L218M	YIPF2_ENST00000253031.2_Missense_Mutation_p.L257M|YIPF2_ENST00000586748.1_Missense_Mutation_p.L257M			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	257						integral to membrane|transport vesicle				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						GTGGCCACCAGCCTGGTGTCC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	44	43			NA	NA	19		NA											NA				11034236		2203	4298	6501	SO:0001583	missense			BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733	78992	78992		Yip1 domain family	28476	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024029	NM_024029	NA	Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000590329.1:c.652C>A	19.37:g.11034236G>T	ENSP00000467019:p.Leu218Met	NA		37		.	.	.	.	.	.	.	.	.	.	G	3.746	-0.052646	0.07362	.	.	ENSG00000130733	ENST00000253031	.	.	.	4.58	-0.291	0.12843	.	0.819276	0.10936	N	0.617763	T	0.15955	0.0384	N	0.04508	-0.205	0.09310	N	1	B	0.20671	0.047	B	0.28465	0.09	T	0.27191	-1.0081	9	0.41790	T	0.15	.	4.2388	0.10638	0.0988:0.3781:0.3913:0.1319	.	257	Q9BWQ6	YIPF2_HUMAN	M	257	.	ENSP00000253031:L257M	L	-	1	2	YIPF2	10895236	0.000000	0.05858	0.005000	0.12908	0.104000	0.19210	-0.256000	0.08757	0.461000	0.27071	0.655000	0.94253	CTG	YIPF2-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000453050.1		-	ENST00000590329.1	Missense_Mutation	SNP	19 : 11034236 - 11034236 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	410	80
HARS	3035	broad.mit.edu	37	5	140056961	140056961	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140056961G>A	ENST00000504366.1	-	7	2386	c.567C>T	c.(565-567)ggC>ggT	p.G189G	HARS_ENST00000415192.2_Silent_p.G184G|HARS_ENST00000448240.1_Silent_p.G63G|HARS_ENST00000438307.2_Silent_p.G218G|HARS_ENST00000431330.2_Silent_p.G144G|HARS_ENST00000504156.1_Silent_p.G258G|HARS_ENST00000307633.3_Silent_p.G198G|HARS_ENST00000457527.2_Silent_p.G238G			P12081	SYHC_HUMAN	histidyl-tRNA synthetase	258					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CAGGTGCAAGGCCCTTCTCTC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	142	151			NA	NA	5		NA											NA				140056961		2203	4300	6503	SO:0001819	synonymous_variant			AK000498	CCDS4237.1, CCDS58976.1, CCDS58977.1, CCDS58978.1, CCDS75323.1, CCDS75324.1	5q31.3	2012-10-02			ENSG00000170445	ENSG00000170445	3035	3035	6.1.1.21	Aminoacyl tRNA synthetases / Class II	4816	protein-coding gene	gene with protein product	histidine tRNA ligase 1, cytoplasmic	142810			NA		Standard	NM_002109	XM_005268428	NA	Approved		uc003lgv.4	P12081	OTTHUMG00000129502	ENST00000504366.1:c.567C>T	5.37:g.140056961G>A		NA		37																																																																																				HARS-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000372852.3		-	ENST00000504366.1	Silent	SNP	5 : 140056961 - 140056961 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	606	97
VPS26A	9559	broad.mit.edu	37	10	70892692	70892692	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70892692C>T	ENST00000373382.1	+	3	695	c.42C>T	c.(40-42)atC>atT	p.I14I	VPS26A_ENST00000541711.1_5'UTR|VPS26A_ENST00000395098.1_Silent_p.I14I|VPS26A_ENST00000489794.1_5'UTR|VPS26A_ENST00000546041.1_5'UTR|VPS26A_ENST00000263559.6_Silent_p.I14I|VPS26A_ENST00000490696.1_3'UTR			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	14					retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						TTTGTGAGATCGATATTGTTC	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(90;545 1358 4729 6702 16773)							NA				0													85	89	88			NA	NA	10		NA											NA				70892692		2203	4300	6503	SO:0001819	synonymous_variant			AF054179	CCDS7286.1, CCDS41536.1	10q21.1	2007-01-12	2007-01-12	2005-10-11	ENSG00000122958	ENSG00000122958	9559	9559			12711	protein-coding gene	gene with protein product		605506	vacuolar protein sorting 26 (yeast homolog), vacuolar protein sorting 26 (yeast), vacuolar protein sorting 26 homolog A (yeast)	VPS26	NA	1638986, 9653160	Standard	NM_004896	NM_004896	NA	Approved	Hbeta58, PEP8A	uc001jpb.3	O75436	OTTHUMG00000018376	ENST00000373382.1:c.42C>T	10.37:g.70892692C>T		NA	B2RDD3|Q8TBH4|Q9H982	37	CCDS7286.1																																																																																			VPS26A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048403.1		+	ENST00000373382.1	Silent	SNP	10 : 70892692 - 70892692 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	483	89
SNX14	57231	broad.mit.edu	37	6	86256893	86256893	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:86256893G>A	ENST00000314673.3	-	12	1221	c.1045C>T	c.(1045-1047)Cgt>Tgt	p.R349C	SNX14_ENST00000369627.2_Missense_Mutation_p.R349C|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000505648.1_Missense_Mutation_p.R297C|SNX14_ENST00000513865.1_Missense_Mutation_p.R349C|SNX14_ENST00000346348.3_Missense_Mutation_p.R305C	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	349	RGS.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TTCATAAAACGAAATAAAAGA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	80	84			NA	NA	6		NA											NA				86256893		2203	4300	6503	SO:0001583	missense			AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317	57231	57231		Sorting nexins	14977	protein-coding gene	gene with protein product					NA	11485546, 11736640	Standard	NM_153816	XM_005248738	NA	Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.1045C>T	6.37:g.86256893G>A	ENSP00000313121:p.Arg349Cys	NA	B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	37	CCDS5004.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.368792	0.82463	.	.	ENSG00000135317	ENST00000346348;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216	T;T;T;T;T;T	0.01871	4.59;4.59;4.59;4.59;4.59;4.59	5.39	4.52	0.55395	Regulator of G protein signalling (2);Regulator of G protein signalling superfamily (1);	0.096864	0.64402	D	0.000001	T	0.04907	0.0132	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	P;P;D;P	0.65987	0.901;0.901;0.94;0.857	T	0.37641	-0.9697	10	0.45353	T	0.12	-10.6131	13.9387	0.64041	0.0727:0.0:0.9273:0.0	.	349;305;349;297	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	C	305;349;349;297;349;276	ENSP00000257769:R305C;ENSP00000313121:R349C;ENSP00000420938:R349C;ENSP00000427380:R297C;ENSP00000358641:R349C;ENSP00000425630:R276C	ENSP00000313121:R349C	R	-	1	0	SNX14	86313612	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.659000	0.83766	1.279000	0.44446	0.655000	0.94253	CGT	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041393.2		-	ENST00000314673.3	Missense_Mutation	SNP	6 : 86256893 - 86256893 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	221	29
GPX2	2877	broad.mit.edu	37	14	65409265	65409265	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65409265G>A	ENST00000389614.5	-	1	266	c.180C>T	c.(178-180)cgC>cgT	p.R60R	FNTB_ENST00000447296.2_Intron|CHURC1-FNTB_ENST00000549987.1_Intron|FNTB_ENST00000542227.1_Intron	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN	glutathione peroxidase 2 (gastrointestinal)	60					response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity			large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	GGACCACCAGGCGCCTGGGAA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	86	85			NA	NA	14		NA											NA				65409265		1953	4119	6072	SO:0001819	synonymous_variant				CCDS41964.1	14q23.3	2012-05-22			ENSG00000176153	ENSG00000176153	2877	2877	1.11.1.9		4554	protein-coding gene	gene with protein product		138319			NA	8428933, 8287691	Standard		NM_002083	NA	Approved	GSHPX-GI	uc021ruq.2	P18283	OTTHUMG00000171677	ENST00000389614.5:c.180C>T	14.37:g.65409265G>A		NA	Q6PJ52|Q8WWI7|Q9NRP9	37	CCDS41964.1																																																																																			GPX2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	NA	protein_coding	OTTHUMT00000414708.1		-	ENST00000389614.5	Silent	SNP	14 : 65409265 - 65409265 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	593	78
DIDO1	11083	broad.mit.edu	37	20	61522306	61522306	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61522306G>A	ENST00000395335.2	-	15	3872	c.3547C>T	c.(3547-3549)Cgc>Tgc	p.R1183C	DIDO1_ENST00000395343.1_Intron|DIDO1_ENST00000266070.4_Intron|DIDO1_ENST00000395340.1_Missense_Mutation_p.R1183C	NM_080797.3	NP_542987.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	0					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GAAAGCCGGCGCTTACCTGGT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)							NA				0													70	70	70			NA	NA	20		NA											NA				61522306		2203	4300	6503	SO:0001583	missense			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191	11083	11083		Zinc fingers, PHD-type	2680	protein-coding gene	gene with protein product		604140	chromosome 20 open reading frame 158, death associated transcription factor 1	C20orf158, DATF1	NA	10393935	Standard	NM_080796	NM_033081	NA	Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000395335.2:c.3547C>T	20.37:g.61522306G>A	ENSP00000378744:p.Arg1183Cys	NA	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	37	CCDS13508.2	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121127	0.37436	.	.	ENSG00000101191	ENST00000395340;ENST00000395335	T;T	0.13420	2.59;2.59	5.14	4.19	0.49359	.	.	.	.	.	T	0.12178	0.0296	.	.	.	0.80722	D	1	B	0.17465	0.022	B	0.10450	0.005	T	0.05068	-1.0908	8	0.42905	T	0.14	.	12.0542	0.53524	0.0804:0.0:0.9196:0.0	.	1183	Q9BTC0-1	.	C	1183	ENSP00000378749:R1183C;ENSP00000378744:R1183C	ENSP00000378744:R1183C	R	-	1	0	DIDO1	60992751	1.000000	0.71417	0.565000	0.28409	0.203000	0.24098	4.394000	0.59671	1.290000	0.44636	0.655000	0.94253	CGC	DIDO1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080090.3		-	ENST00000395335.2	Missense_Mutation	SNP	20 : 61522306 - 61522306 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	339	67
DIDO1	11083	broad.mit.edu	37	20	61542332	61542332	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61542332G>A	ENST00000266070.4	-	3	958	c.633C>T	c.(631-633)ggC>ggT	p.G211G	DIDO1_ENST00000266071.5_Silent_p.G211G|DIDO1_ENST00000395343.1_Silent_p.G211G|DIDO1_ENST00000370371.4_Silent_p.G211G|DIDO1_ENST00000370366.1_Silent_p.G211G|DIDO1_ENST00000354665.4_Silent_p.G211G|DIDO1_ENST00000395340.1_Silent_p.G211G|DIDO1_ENST00000395335.2_Silent_p.G211G|DIDO1_ENST00000370368.1_Silent_p.G211G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	211					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.G211G(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGGGCAGGACGCCCTCCACAG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)							NA				1	Substitution - coding silent(1)	large_intestine(1)											59	63	62			NA	NA	20		NA											NA				61542332		2203	4300	6503	SO:0001819	synonymous_variant			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191	11083	11083		Zinc fingers, PHD-type	2680	protein-coding gene	gene with protein product		604140	chromosome 20 open reading frame 158, death associated transcription factor 1	C20orf158, DATF1	NA	10393935	Standard	NM_080796	NM_033081	NA	Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.633C>T	20.37:g.61542332G>A		NA	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	37	CCDS33506.1																																																																																			DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080091.2		-	ENST00000266070.4	Silent	SNP	20 : 61542332 - 61542332 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	467	80
STRA8	346673	broad.mit.edu	37	7	134927583	134927583	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134927583C>A	ENST00000275764.3	+	3	309	c.309C>A	c.(307-309)acC>acA	p.T103T		NM_182489.1	NP_872295.1	Q7Z7C7	STRA8_HUMAN	stimulated by retinoic acid 8	103					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus		p.T103T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						TGGAGCAAACCCTGGATAATT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											117	115	116			NA	NA	7		NA											NA				134927583		2203	4300	6503	SO:0001819	synonymous_variant			AF513502	CCDS5839.1	7q33	2012-12-07	2012-12-07		ENSG00000146857	ENSG00000146857	346673	346673			30653	protein-coding gene	gene with protein product		609987	stimulated by retinoic acid gene 8 homolog (mouse), stimulated by retinoic acid 8 homolog (mouse)		NA	12489526	Standard	NM_182489	NM_182489	NA	Approved		uc011kpx.2	Q7Z7C7	OTTHUMG00000155415	ENST00000275764.3:c.309C>A	7.37:g.134927583C>A		NA		37	CCDS5839.1																																																																																			STRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340028.1		+	ENST00000275764.3	Silent	SNP	7 : 134927583 - 134927583 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	520	52
COL20A1	57642	broad.mit.edu	37	20	61958155	61958155	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61958155C>A	ENST00000422202.1	+	30	3597	c.3529C>A	c.(3529-3531)Cca>Aca	p.P1177T	COL20A1_ENST00000326996.6_Missense_Mutation_p.P1202T|COL20A1_ENST00000358894.6_Missense_Mutation_p.P1170T|COL20A1_ENST00000435874.1_Missense_Mutation_p.P1177T			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1170	Collagen-like 2.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GCGAGGACCTCCAGGGACCGT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	34	32			NA	NA	20		NA											NA				61958155		1985	4151	6136	SO:0001583	missense			BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203	57642	57642		Collagens, Fibronectin type III domain containing	14670	protein-coding gene	gene with protein product					NA	10819331	Standard	NM_020882	NM_020882	NA	Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000422202.1:c.3529C>A	20.37:g.61958155C>A	ENSP00000414753:p.Pro1177Thr	NA	Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	37		.	.	.	.	.	.	.	.	.	.	C	10.04	1.240504	0.22711	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202;ENST00000415763;ENST00000455906	D;D;D;D;D;D	0.90900	-2.63;-2.63;-2.63;-2.63;-2.75;-2.75	3.92	1.93	0.25924	.	0.239997	0.32416	U	0.006123	D	0.91831	0.7415	M	0.62016	1.91	0.34361	D	0.691012	D;D	0.76494	0.999;0.999	D;D	0.72982	0.964;0.979	D	0.89616	0.3845	10	0.40728	T	0.16	.	4.0991	0.10005	0.0:0.5812:0.1972:0.2216	.	1177;1170	Q9P218-2;Q9P218	.;COKA1_HUMAN	T	1170;1202;1177;1177;305;160	ENSP00000351767:P1170T;ENSP00000323077:P1202T;ENSP00000408690:P1177T;ENSP00000414753:P1177T;ENSP00000410799:P305T;ENSP00000406345:P160T	ENSP00000323077:P1202T	P	+	1	0	COL20A1	61428599	0.037000	0.19845	0.339000	0.25562	0.023000	0.10783	1.718000	0.38001	0.165000	0.19558	0.313000	0.20887	CCA	COL20A1-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000080130.4		+	ENST00000422202.1	Missense_Mutation	SNP	20 : 61958155 - 61958155 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	61	11
TTBK1	84630	broad.mit.edu	37	6	43251286	43251286	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43251286A>C	ENST00000259750.4	+	14	2891	c.2808A>C	c.(2806-2808)aaA>aaC	p.K936N		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	936						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TTGCGGAGAAAACCCACCTCA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	71	73			NA	NA	6		NA											NA				43251286		2203	4300	6503	SO:0001583	missense			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216	84630	84630			19140	protein-coding gene	gene with protein product					NA	11347906	Standard		XM_006715229	NA	Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.2808A>C	6.37:g.43251286A>C	ENSP00000259750:p.Lys936Asn	NA	A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	37	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	A	16.27	3.074841	0.55646	.	.	ENSG00000146216	ENST00000259750	T	0.57273	0.41	5.14	2.48	0.30137	.	0.073927	0.53938	D	0.000057	T	0.40196	0.1107	L	0.50333	1.59	0.80722	D	1	D	0.57257	0.979	P	0.52554	0.702	T	0.35450	-0.9788	10	0.66056	D	0.02	.	7.7415	0.28843	0.6333:0.0:0.3667:0.0	.	936	Q5TCY1	TTBK1_HUMAN	N	936	ENSP00000259750:K936N	ENSP00000259750:K936N	K	+	3	2	TTBK1	43359264	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	1.055000	0.30467	0.190000	0.20209	0.379000	0.24179	AAA	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040584.3		+	ENST00000259750.4	Missense_Mutation	SNP	6 : 43251286 - 43251286 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	465	14
USP28	57646	broad.mit.edu	37	11	113683039	113683039	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113683039C>T	ENST00000003302.4	-	16	1999	c.1931G>A	c.(1930-1932)tGt>tAt	p.C644Y	USP28_ENST00000545540.1_Missense_Mutation_p.C519Y|USP28_ENST00000544967.1_Missense_Mutation_p.C352Y|USP28_ENST00000260188.5_Missense_Mutation_p.C644Y	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	644					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GTACATCAGACAGTAAGCACT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)							NA				0													117	111	113			NA	NA	11		NA											NA				113683039		2201	4296	6497	SO:0001583	missense			AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028	57646	57646		Ubiquitin-specific peptidases	12625	protein-coding gene	gene with protein product		610748	ubiquitin specific protease 28		NA	12838346, 11597335	Standard		XM_005271630	NA	Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1931G>A	11.37:g.113683039C>T	ENSP00000003302:p.Cys644Tyr	NA	B0YJC0|B0YJC1|Q9P213	37	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483135	0.84747	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000538475	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.0	5.0	0.66597	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.52964	0.1767	L	0.53561	1.675	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.54443	-0.8293	10	0.72032	D	0.01	-15.4412	18.491	0.90848	0.0:1.0:0.0:0.0	.	519;644;352	B4E3L3;Q96RU2;G3V1N5	.;UBP28_HUMAN;.	Y	644;644;352;519;348	ENSP00000003302:C644Y;ENSP00000260188:C644Y;ENSP00000442431:C352Y;ENSP00000444991:C519Y;ENSP00000442257:C348Y	ENSP00000003302:C644Y	C	-	2	0	USP28	113188249	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.270000	0.78493	2.585000	0.87301	0.655000	0.94253	TGT	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398789.1		-	ENST00000003302.4	Missense_Mutation	SNP	11 : 113683039 - 113683039 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	485	66
GALNTL6	442117	broad.mit.edu	37	4	173873248	173873248	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:173873248C>T	ENST00000506823.1	+	10	1867	c.1210C>T	c.(1210-1212)Cgg>Tgg	p.R404W	GALNTL6_ENST00000508122.1_Missense_Mutation_p.R387W	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	404						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TTACCAGCGGCGGCCGGAGTA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	51	48			NA	NA	4		NA											NA				173873248		2203	4300	6503	SO:0001583	missense				CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473	442117	442117		Glycosyltransferase family 2 domain containing	33844	protein-coding gene	gene with protein product	polypeptide GalNAc transferase-like 6	615138	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6		NA		Standard	NM_001034845	NM_001034845	NA	Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.1210C>T	4.37:g.173873248C>T	ENSP00000423313:p.Arg404Trp	NA	Q2L4S6	37	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	c	23.2	4.387781	0.82902	.	.	ENSG00000174473	ENST00000506823;ENST00000508122	T;T	0.68903	-0.36;-0.36	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000003	T	0.80944	0.4721	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	D	0.83486	0.0067	10	0.87932	D	0	.	13.997	0.64409	0.1514:0.8486:0.0:0.0	.	404	Q49A17	GLTL6_HUMAN	W	404;387	ENSP00000423313:R404W;ENSP00000423827:R387W	ENSP00000423313:R404W	R	+	1	2	GALNTL6	174109823	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.742000	0.62103	2.582000	0.87167	0.297000	0.19635	CGG	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362395.1		+	ENST00000506823.1	Missense_Mutation	SNP	4 : 173873248 - 173873248 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	446	72
SYK	6850	broad.mit.edu	37	9	93650131	93650131	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93650131T>C	ENST00000375754.4	+	12	1830	c.1682T>C	c.(1681-1683)tTg>tCg	p.L561S	SYK_ENST00000375747.1_Missense_Mutation_p.L538S|SYK_ENST00000375751.4_Missense_Mutation_p.L538S|SYK_ENST00000375746.1_Missense_Mutation_p.L561S	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	561	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TTTGGAGTGTTGATGTGGGAA	0.502		NA	T	ETV6, ITK	MDS, peripheral T-cell lymphoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		9	9q22	6850	spleen tyrosine kinase		L	0													156	150	152			NA	NA	9		NA											NA				93650131		2203	4300	6503	SO:0001583	missense			L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025	6850	6850		SH2 domain containing	11491	protein-coding gene	gene with protein product		600085			NA	8082894, 1423621	Standard		XM_005252147	NA	Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.1682T>C	9.37:g.93650131T>C	ENSP00000364907:p.Leu561Ser	NA		37	CCDS6688.1	.	.	.	.	.	.	.	.	.	.	T	15.24	2.774724	0.49786	.	.	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	4.78	3.65	0.41850	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000005	T	0.76062	0.3935	M	0.73598	2.24	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76913	-0.2783	10	0.72032	D	0.01	.	10.1934	0.43041	0.0:0.0784:0.0:0.9216	.	538;561	P43405-2;P43405	.;KSYK_HUMAN	S	561;538;538;561	ENSP00000364907:L561S;ENSP00000364904:L538S;ENSP00000364899:L538S;ENSP00000364898:L561S	ENSP00000364898:L561S	L	+	2	0	SYK	92689952	0.709000	0.27886	0.282000	0.24776	0.653000	0.38743	3.642000	0.54367	0.857000	0.35407	0.379000	0.24179	TTG	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053018.1		+	ENST00000375754.4	Missense_Mutation	SNP	9 : 93650131 - 93650131 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	944	173
PPP1R3A	5506	broad.mit.edu	37	7	113519452	113519452	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:113519452C>T	ENST00000284601.3	-	4	1763	c.1695G>A	c.(1693-1695)ctG>ctA	p.L565L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	565					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GTTCGCTCAGCAGAGTAGCCA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	107	110			NA	NA	7		NA											NA				113519452		2203	4300	6503	SO:0001819	synonymous_variant			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	5506	5506	3.1.3.16	Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	9291	protein-coding gene	gene with protein product	glycogen-associated regulatory subunit of protein phosphatase-1, protein phosphatase 1 regulatory subunit GM	600917	protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle), protein phosphatase 1, regulatory (inhibitor) subunit 3A	PPP1R3	NA	7926294	Standard	NM_002711	NM_002711	NA	Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1695G>A	7.37:g.113519452C>T		NA	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	37	CCDS5759.1																																																																																			PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346724.1		-	ENST00000284601.3	Silent	SNP	7 : 113519452 - 113519452 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	530	77
MMP9	4318	broad.mit.edu	37	20	44644913	44644913	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44644913G>A	ENST00000372330.3	+	13	2049	c.2030G>A	c.(2029-2031)cGc>cAc	p.R677H	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	677	Hemopexin-like 4.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TGCCAGGACCGCTTCTACTGG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	101	106			NA	NA	20		NA											NA				44644913		2203	4300	6503	SO:0001583	missense				CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	4318	4318	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase), matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	CLG4B	NA	2158484	Standard		NM_004994	NA	Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.2030G>A	20.37:g.44644913G>A	ENSP00000361405:p.Arg677His	NA	B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	37	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829338	0.71258	.	.	ENSG00000100985	ENST00000372330;ENST00000545925	T	0.03035	4.07	4.59	0.258	0.15578	Hemopexin/matrixin (2);	0.810139	0.11279	N	0.580598	T	0.03305	0.0096	L	0.35723	1.085	0.34728	D	0.729424	P	0.51147	0.942	B	0.42112	0.376	T	0.54344	-0.8308	10	0.42905	T	0.14	.	4.3195	0.11009	0.2953:0.0:0.5408:0.1639	.	677	P14780	MMP9_HUMAN	H	677;247	ENSP00000361405:R677H	ENSP00000361405:R677H	R	+	2	0	MMP9	44078320	0.859000	0.29813	0.981000	0.43875	0.972000	0.66771	1.385000	0.34408	0.535000	0.28714	0.650000	0.86243	CGC	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080337.1		+	ENST00000372330.3	Missense_Mutation	SNP	20 : 44644913 - 44644913 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	413	19
ZNF85	7639	broad.mit.edu	37	19	21131956	21131956	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21131956C>T	ENST00000601023.1	+	2	1105	c.459C>T	c.(457-459)aaC>aaT	p.N153N	ZNF85_ENST00000345030.6_Silent_p.N179N|ZNF85_ENST00000328178.8_Silent_p.N212N			Q03923	ZNF85_HUMAN	zinc finger protein 85	212						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						AAGCCTTTAACTGGTCCTCAA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	41	40			NA	NA	19		NA											NA				21131956		2196	4296	6492	SO:0001819	synonymous_variant			U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750	7639	7639		Zinc fingers, C2H2-type, -	13160	protein-coding gene	gene with protein product		603899	zinc finger protein 85 (HPF4, HTF1)		NA	2505992	Standard	NM_003429	NM_003429	NA	Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000601023.1:c.459C>T	19.37:g.21131956C>T		NA	B9ZVP4	37																																																																																				ZNF85-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000463433.2		+	ENST00000601023.1	Silent	SNP	19 : 21131956 - 21131956 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	281	60
SLC1A1	6505	broad.mit.edu	37	9	4576765	4576765	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4576765T>C	ENST00000262352.3	+	10	1429		c.e10+2			NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	NA					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	CACCATCAGGTGGGGCATGGT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	137	143			NA	NA	9		NA											NA				4576765		2203	4300	6503	SO:0001630	splice_region_variant				CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688	6505	6505		Solute carriers	10939	protein-coding gene	gene with protein product		133550			NA	8020993	Standard		NM_004170	NA	Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.1193+2T>C	9.37:g.4576765T>C		NA	O75587|Q5VZ24|Q8N199|Q9UEW2	37	CCDS6452.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.349111	0.82132	.	.	ENSG00000106688	ENST00000262352;ENST00000422398	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6606	0.77186	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC1A1	4566765	1.000000	0.71417	0.980000	0.43619	0.922000	0.55478	7.962000	0.87912	2.097000	0.63578	0.533000	0.62120	.	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051571.1	Intron	+	ENST00000262352.3	Splice_Site	SNP	9 : 4576765 - 4576765 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	486	77
FAM214A	56204	broad.mit.edu	37	15	52901191	52901191	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52901191C>T	ENST00000261844.7	-	6	2072	c.1920G>A	c.(1918-1920)caG>caA	p.Q640Q	FAM214A_ENST00000546305.2_Silent_p.Q647Q	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	640											NA						AATTTGAATACTGTTTATCAA	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	115	115			NA	NA	15		NA											NA				52901191		1814	4072	5886	SO:0001819	synonymous_variant			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346	56204	56204			25609	protein-coding gene	gene with protein product			KIAA1370	KIAA1370	NA	10718198	Standard	NM_019600	XM_005254547	NA	Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.1920G>A	15.37:g.52901191C>T		NA	A8KA52|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	37	CCDS45263.1																																																																																			FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419914.1		-	ENST00000261844.7	Silent	SNP	15 : 52901191 - 52901191 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	386	78
MRVI1	10335	broad.mit.edu	37	11	10603427	10603427	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10603427C>T	ENST00000423302.2	-	19	2496	c.2347G>A	c.(2347-2349)Gcc>Acc	p.A783T	MRVI1_ENST00000534266.2_Missense_Mutation_p.A468T|MRVI1_ENST00000552103.1_Missense_Mutation_p.A692T|MRVI1_ENST00000436272.1_Missense_Mutation_p.A756T|MRVI1_ENST00000531107.1_Missense_Mutation_p.A775T|MRVI1_ENST00000421747.1_Missense_Mutation_p.A774T|MRVI1_ENST00000424001.1_Missense_Mutation_p.A468T|MRVI1_ENST00000547195.1_Missense_Mutation_p.A692T|MRVI1_ENST00000527509.2_Missense_Mutation_p.A692T|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000541483.1_Missense_Mutation_p.A577T|MRVI1_ENST00000545852.1_Missense_Mutation_p.A468T|MRVI1-AS1_ENST00000529979.1_RNA|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000558540.1_Missense_Mutation_p.A468T	NM_001206880.1|NM_130385.3	NP_001193809.1|NP_569056.4	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	756	Glu-rich.				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TTGCTGTAGGCTTCTTCCTCC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	83	81			NA	NA	11		NA											NA				10603427		2052	4187	6239	SO:0001583	missense			AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952	10335	10335			7237	protein-coding gene	gene with protein product	inositol 1,4,5-triphosphate-associated cGMP kinase substrate, IP3R-associated cGMP kinase substrate	604673			NA	10321731	Standard	NM_001098579	NM_001098579	NA	Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000423302.2:c.2347G>A	11.37:g.10603427C>T	ENSP00000412130:p.Ala783Thr	NA	B7Z6I2|Q17S00|Q9UNY1	37	CCDS55746.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011331	0.93346	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T;T;T	0.38887	2.23;2.25;1.66;1.66;1.11;1.11;2.05;1.77;2.23;1.66	5.46	5.46	0.80206	.	0.062155	0.64402	D	0.000006	T	0.64271	0.2583	M	0.62723	1.935	0.58432	D	0.999995	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.91635	0.926;0.999;0.999;0.998	T	0.63902	-0.6532	10	0.56958	D	0.05	-11.5738	19.2738	0.94021	0.0:1.0:0.0:0.0	.	577;756;775;774	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	T	774;757;756;692;692;468;468;783;577;775;692	ENSP00000414598:A774T;ENSP00000412229:A756T;ENSP00000448278:A692T;ENSP00000446764:A692T;ENSP00000441971:A468T;ENSP00000401205:A468T;ENSP00000412130:A783T;ENSP00000437784:A577T;ENSP00000432436:A775T;ENSP00000432067:A692T	ENSP00000307885:A757T	A	-	1	0	MRVI1	10560003	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.505000	0.66981	2.720000	0.93068	0.655000	0.94253	GCC	MRVI1-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386137.2		-	ENST00000423302.2	Missense_Mutation	SNP	11 : 10603427 - 10603427 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	78
MAEL	84944	broad.mit.edu	37	1	166991023	166991023	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166991023C>A	ENST00000367872.4	+	12	1480	c.1236C>A	c.(1234-1236)aaC>aaA	p.N412K	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.N381K	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	412					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						AATTCTCCAACTGTGACACTT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	145	146			NA	NA	1		NA											NA				166991023		2203	4300	6503	SO:0001583	missense			AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194	84944	84944			25929	protein-coding gene	gene with protein product	cancer/testis antigen 128, spermatogenesis associated 35	611368	maelstrom homolog (Drosophila)		NA	19693694, 18694567	Standard	NM_032858	NM_001286378	NA	Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.1236C>A	1.37:g.166991023C>A	ENSP00000356846:p.Asn412Lys	NA	B4DY43|Q49AP9|Q5VZP8|Q9UIW6	37	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208493	0.39003	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000537744	T;T	0.42131	0.98;0.99	5.04	2.98	0.34508	.	0.554792	0.17543	N	0.170450	T	0.09686	0.0238	N	0.14661	0.345	0.25966	N	0.982561	B;B	0.17038	0.008;0.02	B;B	0.14023	0.007;0.01	T	0.12863	-1.0531	10	0.72032	D	0.01	.	4.6626	0.12650	0.2188:0.6689:0.0:0.1123	.	381;412	E9JVC3;Q96JY0	.;MAEL_HUMAN	K	412;381;134	ENSP00000356846:N412K;ENSP00000356844:N381K	ENSP00000356844:N381K	N	+	3	2	MAEL	165257647	0.053000	0.20554	0.952000	0.39060	0.996000	0.88848	0.045000	0.14013	1.306000	0.44926	0.655000	0.94253	AAC	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083239.1		+	ENST00000367872.4	Missense_Mutation	SNP	1 : 166991023 - 166991023 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	644	102
ADAMTSL1	92949	broad.mit.edu	37	9	18622252	18622252	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:18622252C>T	ENST00000276935.6	+	5	486	c.486C>T	c.(484-486)tgC>tgT	p.C162C	ADAMTSL1_ENST00000380566.4_Silent_p.C162C|ADAMTSL1_ENST00000380548.4_Silent_p.C162C|ADAMTSL1_ENST00000380570.4_Silent_p.C162C|ADAMTSL1_ENST00000327883.7_Silent_p.C162C			Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	162						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTGTTGGCTGCGATCACCAGC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	0,4406		0,0,2203	103	92	96		486,486	-7.9	0.8	9		96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ADAMTSL1	NM_001040272.5,NM_052866.4	,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,	162/1763,162/526	18622252	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031	92949	92949		Immunoglobulin superfamily / I-set domain containing	14632	protein-coding gene	gene with protein product	punctin	609198	chromosome 9 open reading frame 94	C9orf94	NA	9628581, 11805097	Standard		NM_001040272	NA	Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000276935.6:c.486C>T	9.37:g.18622252C>T		NA	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	37																																																																																				ADAMTSL1-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000051804.5		+	ENST00000276935.6	Silent	SNP	9 : 18622252 - 18622252 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	389	79
EXOSC10	5394	broad.mit.edu	37	1	11142806	11142806	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11142806G>T	ENST00000376936.4	-	10	1268	c.1219C>A	c.(1219-1221)Ctg>Atg	p.L407M	EXOSC10_ENST00000304457.7_Missense_Mutation_p.L407M|EXOSC10_ENST00000544779.1_Missense_Mutation_p.L407M	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	407					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		TAGAGTTTCAGGAGATGATCG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(179;105 1987 14326 27364 29542)							NA				0													211	187	195			NA	NA	1		NA											NA				11142806		2203	4300	6503	SO:0001583	missense			BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824	5394	5394			9138	protein-coding gene	gene with protein product	polymyositis/scleroderma autoantigen 2 (100kD)	605960	polymyositis/scleroderma autoantigen 2, 100kDa	PMSCL2	NA	1383382, 1644924	Standard	NM_001001998	NM_001001998	NA	Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.1219C>A	1.37:g.11142806G>T	ENSP00000366135:p.Leu407Met	NA	B1AKQ0|B1AKQ1|Q15158	37	CCDS30584.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918451	0.73098	.	.	ENSG00000171824	ENST00000376936;ENST00000304457;ENST00000544779	T;T;T	0.65178	-0.14;-0.14;-0.14	6.07	4.19	0.49359	-5&apos (2);Ribonuclease H-like (1); exonuclease (2);3&apos (2);	0.000000	0.85682	D	0.000000	T	0.79522	0.4460	M	0.86097	2.795	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.977;0.987	T	0.82651	-0.0352	10	0.66056	D	0.02	-16.9186	12.3392	0.55085	0.1378:0.0:0.8622:0.0	.	407;407	Q01780-2;Q01780	.;EXOSX_HUMAN	M	407	ENSP00000366135:L407M;ENSP00000307307:L407M;ENSP00000439473:L407M	ENSP00000307307:L407M	L	-	1	2	EXOSC10	11065393	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	4.187000	0.58344	1.572000	0.49736	0.655000	0.94253	CTG	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006078.1		-	ENST00000376936.4	Missense_Mutation	SNP	1 : 11142806 - 11142806 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	755	91
CENPF	1063	broad.mit.edu	37	1	214818475	214818475	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214818475G>T	ENST00000366955.3	+	13	5730	c.5562G>T	c.(5560-5562)caG>caT	p.Q1854H		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1950					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GTGATCACCAGGAGTTACTCC	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(80;575 1284 11000 14801 43496)							NA				0													37	40	39			NA	NA	1		NA											NA				214818475		2202	4299	6501	SO:0001583	missense			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724	1063	1063			1857	protein-coding gene	gene with protein product	mitosin	600236	centromere protein F, 350/400kDa (mitosin)		NA	7904902, 7851898	Standard	NM_016343	NM_016343	NA	Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.5562G>T	1.37:g.214818475G>T	ENSP00000355922:p.Gln1854His	NA	Q13171|Q13246|Q5VVM7	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	3.108	-0.183245	0.06340	.	.	ENSG00000117724	ENST00000366955	T	0.03635	3.86	4.91	0.0819	0.14426	.	1.540600	0.04574	N	0.393769	T	0.05593	0.0147	L	0.59436	1.845	0.09310	N	1	B	0.15141	0.012	B	0.14578	0.011	T	0.43556	-0.9384	10	0.51188	T	0.08	.	5.1055	0.14781	0.1513:0.1171:0.6118:0.1198	.	1950	P49454	CENPF_HUMAN	H	1854	ENSP00000355922:Q1854H	ENSP00000355922:Q1854H	Q	+	3	2	CENPF	212885098	0.994000	0.37717	0.008000	0.14137	0.207000	0.24258	0.915000	0.28638	0.101000	0.17610	0.609000	0.83330	CAG	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089749.1		+	ENST00000366955.3	Missense_Mutation	SNP	1 : 214818475 - 214818475 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	58
CCDC108	255101	broad.mit.edu	37	2	219874743	219874743	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219874743C>T	ENST00000341552.5	-	27	4456	c.4373G>A	c.(4372-4374)cGc>cAc	p.R1458H	CCDC108_ENST00000441968.1_Missense_Mutation_p.R1458H|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Missense_Mutation_p.R1458H	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1458						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAGAGCAGGCGGCTGCACTT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	92	93			NA	NA	2		NA											NA				219874743		2201	4299	6500	SO:0001583	missense			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378	255101	255101			25325	protein-coding gene	gene with protein product		614270			NA	12477932	Standard	NM_194302	NM_194302	NA	Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.4373G>A	2.37:g.219874743C>T	ENSP00000340776:p.Arg1458His	NA	A2BDD8|Q6ZSR8|Q8NDJ3	37	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	33	5.231706	0.95207	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.11169	2.8;2.8;2.8	5.8	5.8	0.92144	.	0.000000	0.46442	D	0.000293	T	0.21962	0.0529	M	0.72894	2.215	0.80722	D	1	P	0.49961	0.93	P	0.45343	0.477	T	0.00611	-1.1645	10	0.87932	D	0	-29.3898	19.6518	0.95819	0.0:1.0:0.0:0.0	.	1458	Q6ZU64	CC108_HUMAN	H	1458	ENSP00000340776:R1458H;ENSP00000413377:R1458H;ENSP00000409117:R1458H	ENSP00000340776:R1458H	R	-	2	0	CCDC108	219582987	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.827000	0.62723	2.752000	0.94435	0.650000	0.86243	CGC	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256598.4		-	ENST00000341552.5	Missense_Mutation	SNP	2 : 219874743 - 219874743 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	236	44
TMEM184A	202915	broad.mit.edu	37	7	1590537	1590537	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1590537C>T	ENST00000297477.5	-	3	617	c.301G>A	c.(301-303)Gcc>Acc	p.A101T		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	101						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGTCGAAGGCGTAGATGGGC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0									THR/ALA	2,4404	4.2+/-10.8	0,2,2201	92	102	98		301	3.1	1	7		98	0,8600		0,0,4300	no	missense	TMEM184A	NM_001097620.1	58	0,2,6501	TT,TC,CC	NA	0.0,0.0454,0.0154	possibly-damaging	101/414	1590537	2,13004	2203	4300	6503	SO:0001583	missense				CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855	202915	202915			28797	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152689	NM_001097620	NA	Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.301G>A	7.37:g.1590537C>T	ENSP00000297477:p.Ala101Thr	NA	Q8TBQ6	37	CCDS43537.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807201	0.70797	4.54E-4	0.0	ENSG00000164855	ENST00000297477;ENST00000319010;ENST00000414730;ENST00000441933;ENST00000431208	T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23	5.05	3.08	0.35506	.	0.129788	0.51477	U	0.000089	T	0.66499	0.2795	M	0.87328	2.875	0.80722	D	1	P	0.51057	0.941	P	0.46850	0.529	T	0.74328	-0.3701	10	0.66056	D	0.02	-7.3466	12.4568	0.55708	0.4328:0.5672:0.0:0.0	.	101	Q6ZMB5	T184A_HUMAN	T	101	ENSP00000297477:A101T;ENSP00000325945:A101T;ENSP00000398382:A101T;ENSP00000389092:A101T;ENSP00000403499:A101T	ENSP00000297477:A101T	A	-	1	0	TMEM184A	1557063	0.998000	0.40836	0.957000	0.39632	0.801000	0.45260	3.733000	0.55029	1.091000	0.41335	0.407000	0.27541	GCC	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239229.4		-	ENST00000297477.5	Missense_Mutation	SNP	7 : 1590537 - 1590537 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	284	66
CLSTN3	9746	broad.mit.edu	37	12	7310163	7310163	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7310163G>A	ENST00000537408.1	+	16	3180	c.2642G>A	c.(2641-2643)cGc>cAc	p.R881H	CLSTN3_ENST00000266546.6_Missense_Mutation_p.R869H|CLSTN3_ENST00000331148.5_3'UTR			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	869					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GGCCTGGTGCGCATCCATTCC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	58	62			NA	NA	12		NA											NA				7310163		2203	4300	6503	SO:0001583	missense			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182	9746	9746		Cadherins / Cadherin-related	18371	protein-coding gene	gene with protein product	cadherin-related family member 14	611324			NA	12498782	Standard	NM_014718	NM_014718	NA	Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000537408.1:c.2642G>A	12.37:g.7310163G>A	ENSP00000440679:p.Arg881His	NA	D3DUT6|O94831|Q2T9J5	37		.	.	.	.	.	.	.	.	.	.	G	25.9	4.685658	0.88639	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.39056	1.1;1.1	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.66703	0.2816	M	0.78916	2.43	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.79784	0.993;0.987;0.993	T	0.71563	-0.4555	10	0.87932	D	0	-28.1793	18.2262	0.89917	0.0:0.0:1.0:0.0	.	211;881;869	Q8IUW6;Q5UE57;Q9BQT9	.;.;CSTN3_HUMAN	H	869;881	ENSP00000266546:R869H;ENSP00000440679:R881H	ENSP00000266546:R869H	R	+	2	0	CLSTN3	7201430	1.000000	0.71417	0.993000	0.49108	0.476000	0.33039	9.593000	0.98250	2.619000	0.88677	0.462000	0.41574	CGC	CLSTN3-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000398561.1		+	ENST00000537408.1	Missense_Mutation	SNP	12 : 7310163 - 7310163 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	171	25
RARG	5916	broad.mit.edu	37	12	53607427	53607427	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53607427C>T	ENST00000425354.2	-	8	1358	c.871G>A	c.(871-873)Ggg>Agg	p.G291R	RARG_ENST00000327550.3_Missense_Mutation_p.G219R|RARG_ENST00000543726.1_Missense_Mutation_p.G269R|RARG_ENST00000394426.1_Missense_Mutation_p.G291R|RARG_ENST00000338561.5_Missense_Mutation_p.G280R|RARG_ENST00000543762.1_5'UTR	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	291	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	AGGGTCAGCCCGTCGGAGAAG	0.617		NA									OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	91	96			NA	NA	12		NA											NA				53607427		2203	4300	6503	SO:0001583	missense			M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819	5916	5916		Nuclear hormone receptors	9866	protein-coding gene	gene with protein product		180190			NA	1849262	Standard	NM_000966	NM_001042728	NA	Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.871G>A	12.37:g.53607427C>T	ENSP00000388510:p.Gly291Arg	993	B7ZAE4|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	37	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391539	0.83011	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000538479;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	D;D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37;-4.37	4.96	4.96	0.65561	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98798	0.9595	M	0.92691	3.335	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.992;0.997;0.999	D	0.99744	1.1016	10	0.87932	D	0	.	17.3466	0.87311	0.0:1.0:0.0:0.0	.	328;269;291;280	F8VR45;B7Z4F1;P13631;F1D8P1	.;.;RARG_HUMAN;.	R	291;291;53;219;280;269;328	ENSP00000388510:G291R;ENSP00000377947:G291R;ENSP00000332695:G219R;ENSP00000343698:G280R;ENSP00000444335:G269R	ENSP00000332695:G219R	G	-	1	0	RARG	51893694	1.000000	0.71417	0.948000	0.38648	0.683000	0.39861	7.773000	0.85462	2.466000	0.83321	0.313000	0.20887	GGG	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109404.2		-	ENST00000425354.2	Missense_Mutation	SNP	12 : 53607427 - 53607427 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	431	76
P2RY8	286530	broad.mit.edu	37	X	1585098	1585098	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:1585098G>A	ENST00000381297.4	-	2	564	c.354C>T	c.(352-354)agC>agT	p.S118S		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	118						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGCGCTCCACGCTGATACAGG	0.632		NA	T	CRLF2	B-ALL, Downs associated ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		X,Y	Xp22.3; Yp11.3	286530	purinergic receptor P2Y, G-protein coupled, 8		L	0													108	103	105			NA	NA	X		NA											NA				1585098		2203	4296	6499	SO:0001819	synonymous_variant			AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162	286530	286530		Pseudoautosomal regions / PAR1, Purinergic receptors, GPCR / Class A : Purinergic receptors, P2Y	15524	protein-coding gene	gene with protein product		300525			NA	11004484	Standard	NM_178129	NM_178129	NA	Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.354C>T	X.37:g.1585098G>A		NA		37	CCDS14115.1																																																																																			P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055602.1		-	ENST00000381297.4	Silent	SNP	X : 1585098 - 1585098 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	82	26
ANK1	286	broad.mit.edu	37	8	41554206	41554206	+	Missense_Mutation	SNP	G	G	A	rs146518198		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41554206G>A	ENST00000289734.7	-	25	2806	c.2723C>T	c.(2722-2724)cCg>cTg	p.P908L	ANK1_ENST00000352337.4_Missense_Mutation_p.P908L|ANK1_ENST00000396942.1_Missense_Mutation_p.P908L|ANK1_ENST00000265709.8_Missense_Mutation_p.P949L|ANK1_ENST00000379758.2_Missense_Mutation_p.P908L|ANK1_ENST00000347528.4_Missense_Mutation_p.P908L|ANK1_ENST00000396945.1_Missense_Mutation_p.P908L	NM_000037.3	NP_000028.3	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	908					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGTATGCACCGGGCTGGCCAC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	38	42	41		2723,2846,2723,2723,2723	5.7	1	8	dbSNP_134	41	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	ANK1	NM_000037.3,NM_001142446.1,NM_020475.2,NM_020476.2,NM_020477.2	98,98,98,98,98	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	908/1881,949/1898,908/1857,908/1882,908/1720	41554206	1,13005	2203	4300	6503	SO:0001583	missense			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534	286	286		Ankyrin repeat domain containing	492	protein-coding gene	gene with protein product		612641		ANK	NA	1689849	Standard	NM_020475	NM_001142445	NA	Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000289734.7:c.2723C>T	8.37:g.41554206G>A	ENSP00000289734:p.Pro908Leu	NA	A6NJ23|O43400|Q13768|Q59FP2|Q8N604|Q99407	37	CCDS6121.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117445	0.77323	2.27E-4	0.0	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.67171	-0.24;-0.24;-0.21;-0.19;-0.21;-0.2;-0.25	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.71117	0.3302	M	0.83692	2.655	0.80722	D	1	B;B;B;P;B;B	0.37636	0.178;0.414;0.012;0.603;0.178;0.413	B;B;B;B;B;B	0.34138	0.082;0.039;0.01;0.176;0.082;0.037	T	0.74423	-0.3670	10	0.48119	T	0.1	.	19.7607	0.96316	0.0:0.0:1.0:0.0	.	949;908;908;908;908;224	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.;.;ANK1_HUMAN;.;.;.	L	908;908;908;908;908;908;949;908	ENSP00000339620:P908L;ENSP00000289734:P908L;ENSP00000369082:P908L;ENSP00000380149:P908L;ENSP00000380147:P908L;ENSP00000309131:P908L;ENSP00000265709:P949L	ENSP00000265709:P949L	P	-	2	0	ANK1	41673363	1.000000	0.71417	0.962000	0.40283	0.927000	0.56198	9.553000	0.98118	2.686000	0.91538	0.561000	0.74099	CCG	ANK1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317298.1		-	ENST00000289734.7	Missense_Mutation	SNP	8 : 41554206 - 41554206 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	307	45
TRO	7216	broad.mit.edu	37	X	54957437	54957437	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54957437G>A	ENST00000173898.7	+	12	4392	c.4280G>A	c.(4279-4281)gGc>gAc	p.G1427D	TRO_ENST00000319167.8_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.G1030D|TRO_ENST00000420798.2_Missense_Mutation_p.G958D|TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1427	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GGTGCCTGTGGCTTCTCGTAT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	28	27			NA	NA	X		NA											NA				54957437		1961	4140	6101	SO:0001583	missense			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445	7216	7216			12326	protein-coding gene	gene with protein product		300132			NA	9533028, 11454705	Standard	NM_016157	NM_001039705	NA	Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.4280G>A	X.37:g.54957437G>A	ENSP00000173898:p.Gly1427Asp	NA	Q9NU89|Q9UPN8	37	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855585	0.51376	.	.	ENSG00000067445	ENST00000173898;ENST00000319179;ENST00000420798;ENST00000375041	T;T;T	0.27104	2.55;1.69;3.06	3.18	2.31	0.28768	.	.	.	.	.	T	0.16471	0.0396	N	0.08118	0	0.26502	N	0.974758	D;D	0.60160	0.987;0.987	P;P	0.47864	0.559;0.559	T	0.08146	-1.0736	9	0.87932	D	0	.	7.5398	0.27731	0.138:0.0:0.862:0.0	.	1030;1427	B1AKE9;Q12816	.;TROP_HUMAN	D	1427;353;958;1030	ENSP00000173898:G1427D;ENSP00000405126:G958D;ENSP00000364181:G1030D	ENSP00000173898:G1427D	G	+	2	0	TRO	54974162	1.000000	0.71417	0.998000	0.56505	0.786000	0.44442	3.930000	0.56522	0.744000	0.32741	0.600000	0.82982	GGC	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056837.3		+	ENST00000173898.7	Missense_Mutation	SNP	X : 54957437 - 54957437 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	141	44
SP140L	93349	broad.mit.edu	37	2	231235641	231235641	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231235641C>T	ENST00000415673.2	+	6	628	c.542C>T	c.(541-543)cCg>cTg	p.P181L	SP140L_ENST00000396563.4_Missense_Mutation_p.P181L|SP140L_ENST00000458341.1_Missense_Mutation_p.P94L|SP140L_ENST00000243810.6_Missense_Mutation_p.P181L|SP140L_ENST00000444636.1_Missense_Mutation_p.P181L	NM_138402.4	NP_612411.4	Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	181						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						CCAGAAAGCCCGGAAGCAAGG	0.532		NA											C	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	0.0035	SNP								NA				0								C	LEU/PRO	1,3957		0,1,1978	73	79	77		542	-2.5	0	2		77	4,8316		0,4,4156	yes	missense	SP140L	NM_138402.4	98	0,5,6134	TT,TC,CC	NA	0.0481,0.0253,0.0407	benign	181/581	231235641	5,12273	1979	4160	6139	SO:0001583	missense			BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404	93349	93349		Zinc fingers, PHD-type	25105	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_138402	NM_138402	NA	Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.542C>T	2.37:g.231235641C>T	ENSP00000397911:p.Pro181Leu	NA	Q2M375|Q4ZG65|Q9BSP3	37	CCDS46538.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.96	1.498004	0.26861	2.53E-4	4.81E-4	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563;ENST00000458341	D;T;D;D;T	0.83914	-1.58;-1.22;-1.58;-1.78;0.79	2.26	-2.5	0.06384	.	.	.	.	.	T	0.66655	0.2811	L	0.40543	1.245	0.09310	N	1	B;B	0.26809	0.017;0.16	B;B	0.22753	0.006;0.041	T	0.52396	-0.8581	9	0.07325	T	0.83	.	4.1643	0.10300	0.2946:0.5149:0.0:0.1905	.	94;181	Q9H930-3;Q9H930-4	.;.	L	181;181;181;181;94	ENSP00000395195:P181L;ENSP00000397911:P181L;ENSP00000243810:P181L;ENSP00000379811:P181L;ENSP00000395223:P94L	ENSP00000243810:P181L	P	+	2	0	SP140L	230943885	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.520000	0.02241	-0.549000	0.06191	0.313000	0.20887	CCG	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374538.1		+	ENST00000415673.2	Missense_Mutation	SNP	2 : 231235641 - 231235641 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	161	29
NOV	4856	broad.mit.edu	37	8	120430352	120430352	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120430352A>C	ENST00000259526.3	+	3	592	c.365A>C	c.(364-366)aAa>aCa	p.K122T		NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	nephroblastoma overexpressed	122	VWFC.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGTGGAGAGAAATTTCAGCCA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	101	100			NA	NA	8		NA											NA				120430352		2203	4300	6503	SO:0001583	missense			X96584	CCDS6328.1	8q24.12	2012-02-27	2012-02-27		ENSG00000136999	ENSG00000136999	4856	4856			7885	protein-coding gene	gene with protein product		164958	nephroblastoma overexpressed gene		NA	1334251	Standard	NM_002514	NM_002514	NA	Approved	IGFBP9, CCN3	uc003yoq.2	P48745	OTTHUMG00000164984	ENST00000259526.3:c.365A>C	8.37:g.120430352A>C	ENSP00000259526:p.Lys122Thr	NA	B2R5X7|Q6I9S3|Q96BY5|Q9UDE4	37	CCDS6328.1	.	.	.	.	.	.	.	.	.	.	A	13.06	2.123628	0.37436	.	.	ENSG00000136999	ENST00000259526	T	0.70869	-0.52	5.51	3.56	0.40772	von Willebrand factor, type C (3);	0.174753	0.53938	N	0.000059	T	0.32194	0.0821	N	0.00329	-1.635	0.35092	D	0.764375	B	0.02656	0.0	B	0.04013	0.001	T	0.23404	-1.0189	10	0.19590	T	0.45	-5.5229	9.4965	0.38991	0.2304:0.66:0.1096:0.0	.	122	P48745	NOV_HUMAN	T	122	ENSP00000259526:K122T	ENSP00000259526:K122T	K	+	2	0	NOV	120499533	0.987000	0.35691	0.998000	0.56505	0.996000	0.88848	2.747000	0.47475	0.740000	0.32651	0.459000	0.35465	AAA	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381301.1		+	ENST00000259526.3	Missense_Mutation	SNP	8 : 120430352 - 120430352 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	325	35
RAP2C	57826	broad.mit.edu	37	X	131348212	131348212	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:131348212G>T	ENST00000342983.2	-	3	1282	c.536C>A	c.(535-537)aCt>aAt	p.T179N	RAP2C_ENST00000370874.1_Missense_Mutation_p.T179N|RAP2C_ENST00000460462.1_5'UTR	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	179					negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					GACGACACAAGTTGTACAACA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	87	93			NA	NA	X		NA											NA				131348212		2203	4299	6502	SO:0001583	missense			BC051467	CCDS14632.1, CCDS76024.1	Xq25	2014-05-09			ENSG00000123728	ENSG00000123728	57826	57826			21165	protein-coding gene	gene with protein product					NA		Standard	NM_021183	NM_001271186	NA	Approved	DKFZp313B211	uc004ewp.4	Q9Y3L5	OTTHUMG00000022424	ENST00000342983.2:c.536C>A	X.37:g.131348212G>T	ENSP00000340274:p.Thr179Asn	NA	B3KWD6|Q5H9H9|Q9BTS0	37	CCDS14632.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465942	0.63625	.	.	ENSG00000123728	ENST00000342983;ENST00000370874	T;T	0.66638	-0.22;-0.22	5.75	5.75	0.90469	.	0.153294	0.64402	D	0.000016	T	0.52354	0.1729	N	0.12746	0.255	0.51767	D	0.999935	B	0.19583	0.037	B	0.12156	0.007	T	0.46289	-0.9202	10	0.41790	T	0.15	.	18.9514	0.92642	0.0:0.0:1.0:0.0	.	179	Q9Y3L5	RAP2C_HUMAN	N	179	ENSP00000340274:T179N;ENSP00000359911:T179N	ENSP00000340274:T179N	T	-	2	0	RAP2C	131175893	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.424000	0.97464	2.423000	0.82170	0.550000	0.68814	ACT	RAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058312.1		-	ENST00000342983.2	Missense_Mutation	SNP	X : 131348212 - 131348212 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	252	59
FAM159A	348378	broad.mit.edu	37	1	53108559	53108559	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53108559C>T	ENST00000517870.1	+	2	357	c.207C>T	c.(205-207)tcC>tcT	p.S69S	FAM159A_ENST00000401050.3_3'UTR	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	69						integral to membrane				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						TAGGCCTGTCCGTAGCAGCAG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													267	258	261			NA	NA	1		NA											NA				53108559		2083	4193	6276	SO:0001819	synonymous_variant				CCDS41336.1	1p32.3	2008-08-08			ENSG00000182183	ENSG00000182183	348378	348378			28757	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_001042693	NM_001042693	NA	Approved	MGC52498	uc001cuf.3	Q6UWV7	OTTHUMG00000008330	ENST00000517870.1:c.207C>T	1.37:g.53108559C>T		NA	Q6ZRG4	37	CCDS41336.1																																																																																			FAM159A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022934.2		+	ENST00000517870.1	Silent	SNP	1 : 53108559 - 53108559 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1352	285
ABCA3	21	broad.mit.edu	37	16	2358456	2358456	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2358456G>A	ENST00000382381.3	-	11	1823				ABCA3_ENST00000301732.5_Missense_Mutation_p.A427V			Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	NA					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.A427V(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CTCACCTTTCGCCTCAAATTT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											103	86	92			NA	NA	16		NA											NA				2358456		2198	4300	6498	SO:0001627	intron_variant			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972	21	21		ATP binding cassette transporters / subfamily A	33	protein-coding gene	gene with protein product		601615		ABC3	NA	8706931	Standard	NM_001089	NM_001089	NA	Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000382381.3:c.1112-4305C>T	16.37:g.2358456G>A		NA	B2RU09|Q54A95|Q92473	37		.	.	.	.	.	.	.	.	.	.	G	7.921	0.738516	0.15574	.	.	ENSG00000167972	ENST00000301732	T	0.74632	-0.86	5.65	3.59	0.41128	.	.	.	.	.	T	0.61850	0.2380	L	0.53780	1.695	0.80722	D	1	B;B	0.32829	0.386;0.386	B;B	0.22753	0.041;0.041	T	0.56625	-0.7948	9	0.20046	T	0.44	.	8.2688	0.31831	0.0863:0.2912:0.6225:0.0	.	427;427	A7MBM9;Q99758	.;ABCA3_HUMAN	V	427	ENSP00000301732:A427V	ENSP00000301732:A427V	A	-	2	0	ABCA3	2298457	1.000000	0.71417	0.042000	0.18584	0.005000	0.04900	6.126000	0.71635	1.389000	0.46526	0.650000	0.86243	GCG	ABCA3-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000435440.1		-	ENST00000382381.3	Intron	SNP	16 : 2358456 - 2358456 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	246	40
ENPP6	133121	broad.mit.edu	37	4	185074810	185074810	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:185074810G>T	ENST00000296741.2	-	2	459	c.318C>A	c.(316-318)ggC>ggA	p.G106G		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	106					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		CTTTGTTGACGCCAATGTCAA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	131	139			NA	NA	4		NA											NA				185074810		2203	4300	6503	SO:0001819	synonymous_variant			AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303	133121	133121			23409	protein-coding gene	gene with protein product					NA		Standard	NM_153343	NM_153343	NA	Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.318C>A	4.37:g.185074810G>T		NA	Q96M57	37	CCDS3834.1																																																																																			ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361428.1		-	ENST00000296741.2	Silent	SNP	4 : 185074810 - 185074810 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	280	14
WDR34	89891	broad.mit.edu	37	9	131397074	131397074	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131397074C>T	ENST00000372715.2	-	7	1168	c.1108G>A	c.(1108-1110)Gcc>Acc	p.A370T	WDR34_ENST00000483181.1_5'UTR	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	370						cytoplasm				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						CGCGTGAGGGCTGCCTCTCCA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	28	27			NA	NA	9		NA											NA				131397074		2202	4299	6501	SO:0001583	missense			BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333	89891	89891		WD repeat domain containing	28296	protein-coding gene	gene with protein product		613363			NA	19521662, 21953912, 24183451	Standard	NM_052844	NM_052844	NA	Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.1108G>A	9.37:g.131397074C>T	ENSP00000361800:p.Ala370Thr	NA	Q5VXV4|Q9BV46	37	CCDS6906.2	.	.	.	.	.	.	.	.	.	.	C	12.84	2.059582	0.36373	.	.	ENSG00000119333	ENST00000372715	T	0.28255	1.62	5.24	5.24	0.73138	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.051625	0.85682	D	0.000000	T	0.37376	0.1001	M	0.74258	2.255	0.58432	D	0.999999	B	0.28998	0.23	B	0.24394	0.053	T	0.27365	-1.0076	10	0.49607	T	0.09	-3.501	17.8239	0.88658	0.0:1.0:0.0:0.0	.	370	Q96EX3	WDR34_HUMAN	T	370	ENSP00000361800:A370T	ENSP00000361800:A370T	A	-	1	0	WDR34	130436895	1.000000	0.71417	0.417000	0.26559	0.179000	0.23085	5.565000	0.67365	2.448000	0.82819	0.561000	0.74099	GCC	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054463.1		-	ENST00000372715.2	Missense_Mutation	SNP	9 : 131397074 - 131397074 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	124	9
ZNF17	7565	broad.mit.edu	37	19	57929366	57929366	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57929366C>T	ENST00000307658.7	+	3	371	c.108C>T	c.(106-108)agC>agT	p.S36S	ZNF17_ENST00000601808.1_Silent_p.S34S|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Silent_p.S46S|ZNF17_ENST00000595206.1_Intron			P17021	ZNF17_HUMAN	zinc finger protein 17	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		ACCTGCACAGCGATGTGATGC	0.453		NA											C	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	5e-04	SNP	Melanoma(149;1637 1853 29914 42869 44988)							NA				0								C		14,4386	21.2+/-45.6	0,14,2186	189	185	186		102	-1.4	0	19		186	5,8595	3.7+/-12.6	0,5,4295	no	coding-synonymous	ZNF17	NM_006959.2		0,19,6481	TT,TC,CC	NA	0.0581,0.3182,0.1462		34/663	57929366	19,12981	2200	4300	6500	SO:0001819	synonymous_variant			X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272	7565	7565		Zinc fingers, C2H2-type, -	12958	protein-coding gene	gene with protein product			zinc finger protein 17 (HPF3, KOX 10)		NA	2115127, 2014798	Standard	NM_006959	NM_006959	NA	Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000307658.7:c.108C>T	19.37:g.57929366C>T		NA	B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	37																																																																																				ZNF17-002	PUTATIVE	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000466383.1		+	ENST00000307658.7	Silent	SNP	19 : 57929366 - 57929366 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1026	104
LRP1B	53353	broad.mit.edu	37	2	141113963	141113963	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141113963G>T	ENST00000389484.3	-	75	12449	c.11478C>A	c.(11476-11478)ttC>ttA	p.F3826L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3826	EGF-like 8.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TACAGCGACAGAAAACAGATG	0.343		NA								TSP Lung(27;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(99;50 2074 2507 20106)							NA				0													120	122	121			NA	NA	2		NA											NA				141113963		2202	4300	6502	SO:0001583	missense			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702	53353	53353		Low density lipoprotein receptors	6693	protein-coding gene	gene with protein product	LRP-deleted in tumors	608766			NA	10766186	Standard	NM_018557	NM_018557	NA	Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11478C>A	2.37:g.141113963G>T	ENSP00000374135:p.Phe3826Leu	NA	Q8WY29|Q8WY30|Q8WY31	37	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.83|12.83	2.056885|2.056885	0.36277|0.36277	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	T|.	0.27557|.	1.66|.	5.83|5.83	4.93|4.93	0.64822|0.64822	Growth factor, receptor (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.405864|.	0.24373|.	N|.	0.039086|.	T|T	0.31979|0.31979	0.0814|0.0814	L|L	0.29908|0.29908	0.895|0.895	0.30927|0.30927	N|N	0.727314|0.727314	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.33214|0.33214	-0.9877|-0.9877	10|5	0.12766|.	T|.	0.61|.	.|.	5.3529|5.3529	0.16045|0.16045	0.2398:0.1613:0.5989:0.0|0.2398:0.1613:0.5989:0.0	.|.	3826|.	Q9NZR2|.	LRP1B_HUMAN|.	L|Y	3826;3764|58	ENSP00000374135:F3826L|.	ENSP00000374135:F3826L|.	F|S	-|-	3|2	2|0	LRP1B|LRP1B	140830433|140830433	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.148000|1.148000	0.31614|0.31614	1.402000|1.402000	0.46780|0.46780	0.655000|0.655000	0.94253|0.94253	TTC|TCT	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254736.2		-	ENST00000389484.3	Missense_Mutation	SNP	2 : 141113963 - 141113963 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	411	101
MYOM3	127294	broad.mit.edu	37	1	24383922	24383922	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24383922C>T	ENST00000374434.3	-	37	4408	c.4246G>A	c.(4246-4248)Gag>Aag	p.E1416K	MYOM3_ENST00000338909.5_Missense_Mutation_p.E309K|MYOM3_ENST00000330966.7_Missense_Mutation_p.E1419K|RP11-293P20.2_ENST00000439239.2_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1416	Ig-like C2-type 4.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGGCCCGTCTCGGAGCCATAC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	LYS/GLU	0,4152		0,0,2076	87	87	87		4246	5.2	0.9	1		87	1,8385		0,1,4192	no	missense	MYOM3	NM_152372.3	56	0,1,6268	TT,TC,CC	NA	0.0119,0.0,0.0080	probably-damaging	1416/1438	24383922	1,12537	2076	4193	6269	SO:0001583	missense			AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661	127294	127294		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	26679	protein-coding gene	gene with protein product			myomesin family, member 3		NA	18177667	Standard	NM_152372	NM_152372	NA	Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.4246G>A	1.37:g.24383922C>T	ENSP00000363557:p.Glu1416Lys	NA	A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	37	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	C	33	5.247414	0.95305	0.0	1.19E-4	ENSG00000142661	ENST00000338909;ENST00000374434;ENST00000330966;ENST00000374442	T;T;T	0.66995	-0.24;-0.24;-0.24	5.24	5.24	0.73138	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.059545	0.64402	D	0.000003	T	0.73418	0.3584	L	0.41027	1.25	0.80722	D	1	D;P	0.89917	1.0;0.944	D;B	0.66716	0.946;0.216	T	0.66897	-0.5807	10	0.13470	T	0.59	.	18.8186	0.92088	0.0:1.0:0.0:0.0	.	1416;309	Q5VTT5;Q5VTT5-3	MYOM3_HUMAN;.	K	309;1416;1419;310	ENSP00000342689:E309K;ENSP00000363557:E1416K;ENSP00000332670:E1419K	ENSP00000332670:E1419K	E	-	1	0	MYOM3	24256509	1.000000	0.71417	0.940000	0.37924	0.980000	0.70556	4.683000	0.61679	2.436000	0.82500	0.655000	0.94253	GAG	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000008272.2		-	ENST00000374434.3	Missense_Mutation	SNP	1 : 24383922 - 24383922 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	63
ARHGEF11	9826	broad.mit.edu	37	1	156933060	156933060	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156933060A>C	ENST00000368194.3	-	13	2114	c.1075T>G	c.(1075-1077)Tct>Gct	p.S359A	ARHGEF11_ENST00000361409.2_Missense_Mutation_p.S319A	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	319	RGSL.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCTGGCCGAGACTTCAGTTTC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	58	57			NA	NA	1		NA											NA				156933060		2203	4300	6503	SO:0001583	missense			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694	9826	9826		Rho guanine nucleotide exchange factors	14580	protein-coding gene	gene with protein product		605708			NA	10526156, 9205841	Standard	NM_198236	NM_014784	NA	Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000368194.3:c.1075T>G	1.37:g.156933060A>C	ENSP00000357177:p.Ser359Ala	NA	D3DVD0|Q5VY40	37	CCDS1163.1	.	.	.	.	.	.	.	.	.	.	A	14.71	2.616613	0.46736	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	D;D	0.83673	-1.75;-1.75	5.56	3.1	0.35709	Regulator of G protein signalling (2);Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.290213	0.24604	N	0.037108	T	0.62380	0.2423	L	0.47016	1.485	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.63778	-0.6560	10	0.54805	T	0.06	-7.3991	6.1864	0.20500	0.4942:0.2718:0.0:0.234	.	319;359	O15085;O15085-2	ARHGB_HUMAN;.	A	359;319	ENSP00000357177:S359A;ENSP00000354644:S319A	ENSP00000354644:S319A	S	-	1	0	ARHGEF11	155199684	1.000000	0.71417	0.993000	0.49108	0.975000	0.68041	1.504000	0.35726	0.938000	0.37419	0.533000	0.62120	TCT	ARHGEF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000098930.1		-	ENST00000368194.3	Missense_Mutation	SNP	1 : 156933060 - 156933060 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	212	14
MCM3	4172	broad.mit.edu	37	6	52148176	52148176	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52148176A>G	ENST00000596288.1	-	2	269	c.242T>C	c.(241-243)gTt>gCt	p.V81A	MCM3_ENST00000419835.2_Intron|MCM3_ENST00000229854.7_Missense_Mutation_p.V36A	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	36					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	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CAGCTCCCGAACTTTGCTCTG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													204	176	185			NA	NA	6		NA											NA				52148176		2203	4300	6503	SO:0001583	missense			X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118	4172	4172			6945	protein-coding gene	gene with protein product		602693	minichromosome maintenance deficient (S. cerevisiae) 3, MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)		NA	1549468	Standard		NM_002388	NA	Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000596288.1:c.242T>C	6.37:g.52148176A>G	ENSP00000472940:p.Val81Ala	NA	Q92660|Q9BTR3|Q9NUE7	37	CCDS4940.2	.	.	.	.	.	.	.	.	.	.	A	28.3	4.904051	0.92035	.	.	ENSG00000112118	ENST00000229854	T	0.11821	2.74	4.9	4.9	0.64082	Nucleic acid-binding, OB-fold-like (1);	0.122293	0.56097	D	0.000038	T	0.20577	0.0495	M	0.88570	2.965	0.80722	D	1	P	0.45474	0.859	P	0.46208	0.507	T	0.08432	-1.0722	10	0.72032	D	0.01	-10.427	14.6754	0.68975	1.0:0.0:0.0:0.0	.	36	P25205	MCM3_HUMAN	A	36	ENSP00000229854:V36A	ENSP00000229854:V36A	V	-	2	0	MCM3	52256135	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.629000	0.90983	2.051000	0.60960	0.533000	0.62120	GTT	MCM3-001	KNOWN	overlapping_uORF|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040897.3		-	ENST00000596288.1	Missense_Mutation	SNP	6 : 52148176 - 52148176 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	452	84
KCNA6	3742	broad.mit.edu	37	12	4920607	4920607	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4920607G>A	ENST00000280684.3	+	1	2266	c.1400G>A	c.(1399-1401)cGg>cAg	p.R467Q	KCNA6_ENST00000433855.1_Missense_Mutation_p.R467Q			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	467						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TTCTACCACCGGGAGACGGAG	0.617		NA								HNSCC(72;0.22)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	117	121			NA	NA	12		NA											NA				4920607		2203	4300	6503	SO:0001583	missense			X17622	CCDS8534.1	12p13	2014-06-12					3742	3742		Potassium channels, Voltage-gated ion channels / Potassium channels	6225	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 96	176257			NA	16382104	Standard	NM_002235	NM_002235	NA	Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.1400G>A	12.37:g.4920607G>A	ENSP00000280684:p.Arg467Gln	NA		37	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430908	0.83776	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.97378	-4.36;-4.36	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.97427	0.9158	M	0.82630	2.6	0.58432	D	0.999998	D	0.56746	0.977	P	0.49451	0.611	D	0.97072	0.9778	10	0.38643	T	0.18	.	17.6514	0.88165	0.0:0.0:1.0:0.0	.	467	P17658	KCNA6_HUMAN	Q	467	ENSP00000408321:R467Q;ENSP00000280684:R467Q	ENSP00000280684:R467Q	R	+	2	0	KCNA6	4790868	1.000000	0.71417	0.972000	0.41901	0.995000	0.86356	9.565000	0.98154	2.641000	0.89580	0.591000	0.81541	CGG	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398909.1		+	ENST00000280684.3	Missense_Mutation	SNP	12 : 4920607 - 4920607 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	443	84
PARP14	54625	broad.mit.edu	37	3	122433238	122433238	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122433238A>C	ENST00000474629.2	+	12	4228	c.3962A>C	c.(3961-3963)aAa>aCa	p.K1321T		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1321	Macro 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TGTGAAAAAAAAAATTACTCA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	55	55			NA	NA	3		NA											NA				122433238		1885	4107	5992	SO:0001583	missense			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193	54625	54625		Poly (ADP-ribose) polymerases	29232	protein-coding gene	gene with protein product		610028			NA	15273990	Standard	NM_017554	NM_017554	NA	Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.3962A>C	3.37:g.122433238A>C	ENSP00000418194:p.Lys1321Thr	NA	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	37	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	A	7.706	0.694120	0.15039	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000398157	T	0.24908	1.83	5.51	-1.77	0.07982	Appr-1-p processing (3);	1.276660	0.05270	N	0.517289	T	0.24736	0.0600	L	0.49126	1.545	0.09310	N	1	B;B	0.24317	0.007;0.101	B;B	0.35770	0.002;0.21	T	0.41251	-0.9519	10	0.15499	T	0.54	.	5.7315	0.18042	0.2248:0.0:0.2059:0.5693	.	1321;1321	Q460N5-4;Q460N5	.;PAR14_HUMAN	T	1321;1240;317	ENSP00000418194:K1321T	ENSP00000381224:K317T	K	+	2	0	PARP14	123915928	0.000000	0.05858	0.018000	0.16275	0.327000	0.28475	-0.784000	0.04633	-0.101000	0.12219	-0.337000	0.08149	AAA	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356173.2		+	ENST00000474629.2	Missense_Mutation	SNP	3 : 122433238 - 122433238 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	217	29
IRF2BP2	359948	broad.mit.edu	37	1	234744193	234744193	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234744193C>T	ENST00000366609.3	-	1	1078	c.1048G>A	c.(1048-1050)Gtt>Att	p.V350I	RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_Intron	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			CCGCCCCTACCTGCTTTAGAC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	15	15			NA	NA	1		NA											NA				234744193		2195	4291	6486	SO:0001630	splice_region_variant			AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264	359948	359948			21729	protein-coding gene	gene with protein product		615332			NA	12799427	Standard	NM_182972	NM_182972	NA	Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.1048+1G>A	1.37:g.234744193C>T		NA	B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	37	CCDS1602.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.085298	0.55861	.	.	ENSG00000168264	ENST00000366609	T	0.30448	1.53	4.94	4.04	0.47022	.	0.300208	0.33346	N	0.005013	T	0.19327	0.0464	N	0.19112	0.55	0.36995	D	0.894995	B	0.02656	0.0	B	0.04013	0.001	T	0.10613	-1.0622	9	.	.	.	-0.4825	12.9904	0.58616	0.0:0.9211:0.0:0.0789	.	350	Q7Z5L9	I2BP2_HUMAN	I	350	ENSP00000355568:V350I	.	V	-	1	0	IRF2BP2	232810816	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.149000	0.64863	1.291000	0.44653	0.655000	0.94253	GTT	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092705.1	Missense_Mutation	-	ENST00000366609.3	Splice_Site	SNP	1 : 234744193 - 234744193 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	99	9
CCAR1	55749	broad.mit.edu	37	10	70508917	70508917	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70508917G>A	ENST00000265872.6	+	9	970	c.851G>A	c.(850-852)cGt>cAt	p.R284H	CCAR1_ENST00000535016.1_Missense_Mutation_p.R269H|CCAR1_ENST00000543719.1_Missense_Mutation_p.R269H	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	284					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						CCTCCTGTTCGTATAGTTTCA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	66	66			NA	NA	10		NA											NA				70508917		2203	4300	6503	SO:0001583	missense			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339	55749	55749			24236	protein-coding gene	gene with protein product		612569			NA	12816952	Standard	NM_018237	NM_018237	NA	Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.851G>A	10.37:g.70508917G>A	ENSP00000265872:p.Arg284His	NA	A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	37	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612691	0.87258	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012	T;T;T;T;T;T	0.29655	1.56;1.77;1.77;1.76;1.8;1.77	5.43	5.43	0.79202	.	0.052549	0.85682	D	0.000000	T	0.51261	0.1664	L	0.47716	1.5	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.984;0.987;0.994	T	0.48768	-0.9006	10	0.56958	D	0.05	-9.1222	19.2324	0.93845	0.0:0.0:1.0:0.0	.	269;284;258	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	H	284;269;269;269;258;89	ENSP00000265872:R284H;ENSP00000441820:R269H;ENSP00000445254:R269H;ENSP00000439252:R269H;ENSP00000438610:R258H;ENSP00000439642:R89H	ENSP00000265872:R284H	R	+	2	0	CCAR1	70178923	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.832000	0.92079	2.524000	0.85096	0.650000	0.86243	CGT	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048356.2		+	ENST00000265872.6	Missense_Mutation	SNP	10 : 70508917 - 70508917 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	493	80
WDR17	116966	broad.mit.edu	37	4	177069319	177069319	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:177069319G>A	ENST00000508596.1	+	13	1982	c.1730G>A	c.(1729-1731)tGc>tAc	p.C577Y	WDR17_ENST00000507824.2_Missense_Mutation_p.C584Y|WDR17_ENST00000280190.4_Missense_Mutation_p.C601Y|WDR17_ENST00000393643.2_Missense_Mutation_p.C577Y	NM_181265.3	NP_851782.3	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	601										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CAGGATGCTTGCATCAATATT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	164	165			NA	NA	4		NA											NA				177069319		2203	4300	6503	SO:0001583	missense			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627	116966	116966		WD repeat domain containing	16661	protein-coding gene	gene with protein product		609005			NA	12401215	Standard		NM_170710	NA	Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000508596.1:c.1730G>A	4.37:g.177069319G>A	ENSP00000422763:p.Cys577Tyr	NA		37	CCDS43284.2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471884	0.84533	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.63255	-0.03;-0.03;-0.03	5.77	5.77	0.91146	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80363	0.4609	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79497	-0.1779	10	0.49607	T	0.09	-13.2668	19.9915	0.97366	0.0:0.0:1.0:0.0	.	577;601	E7EQX0;Q8IZU2	.;WDR17_HUMAN	Y	577;577;601;584	ENSP00000422763:C577Y;ENSP00000377258:C577Y;ENSP00000280190:C601Y	ENSP00000280190:C601Y	C	+	2	0	WDR17	177306313	1.000000	0.71417	0.988000	0.46212	0.859000	0.49053	9.085000	0.94083	2.723000	0.93209	0.655000	0.94253	TGC	WDR17-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362335.1		+	ENST00000508596.1	Missense_Mutation	SNP	4 : 177069319 - 177069319 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	768	155
MYCBP2	23077	broad.mit.edu	37	13	77825349	77825349	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77825349C>A	ENST00000544440.2	-	15	2221	c.2204G>T	c.(2203-2205)gGa>gTa	p.G735V	MYCBP2_ENST00000357337.6_Missense_Mutation_p.G735V|MYCBP2_ENST00000407578.2_Missense_Mutation_p.G773V|MYCBP2_ENST00000360084.5_5'UTR			O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	735	Cys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGTACAGTCTCCACAGACAGT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	93	99			NA	NA	13		NA											NA				77825349		2203	4300	6503	SO:0001583	missense			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810	23077	23077			23386	protein-coding gene	gene with protein product		610392	MYC binding protein 2		NA	9689053, 15057823	Standard	NM_015057	NM_015057	NA	Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.2204G>T	13.37:g.77825349C>A	ENSP00000444596:p.Gly735Val	NA	A6NJC6|Q5JSX8|Q5VZN6|Q6PIB6|Q9UQ11|Q9Y6E4	37		.	.	.	.	.	.	.	.	.	.	C	23.1	4.379780	0.82682	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.31247	1.51;1.5;1.51	5.53	5.53	0.82687	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	T	0.55878	0.1948	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.55398	-0.8147	10	0.59425	D	0.04	.	19.4593	0.94910	0.0:1.0:0.0:0.0	.	735	O75592	MYCB2_HUMAN	V	735;773;735	ENSP00000349892:G735V;ENSP00000384288:G773V;ENSP00000444596:G735V	ENSP00000349892:G735V	G	-	2	0	MYCBP2	76723350	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	7.818000	0.86416	2.585000	0.87301	0.563000	0.77884	GGA	MYCBP2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000045326.1		-	ENST00000544440.2	Missense_Mutation	SNP	13 : 77825349 - 77825349 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	299	13
MAP2K4	6416	broad.mit.edu	37	17	12032574	12032574	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:12032574C>A	ENST00000415385.3	+	10	1096	c.1043C>A	c.(1042-1044)tCc>tAc	p.S348Y	MAP2K4_ENST00000353533.5_Missense_Mutation_p.S337Y	NM_001281435.1	NP_001268364.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	337	Protein kinase.				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|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	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		AGGGAATTCTCCCCGAGTTTC	0.428		NA	D, Mis, N		pancreatic, breast, colorectal									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	11	Whole gene deletion(10)|Unknown(1)	ovary(4)|breast(4)|biliary_tract(1)|lung(1)|pancreas(1)											114	108	110			NA	NA	17		NA											NA				12032574		2203	4300	6503	SO:0001583	missense			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	6416	6416	2.7.12.2	Mitogen-activated protein kinase cascade / Kinase kinases	6844	protein-coding gene	gene with protein product		601335		SERK1	NA	7716521	Standard		NM_003010	NA	Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000415385.3:c.1043C>A	17.37:g.12032574C>A	ENSP00000410402:p.Ser348Tyr	NA	B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	37		.	.	.	.	.	.	.	.	.	.	C	29.2	4.983003	0.93044	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.26067	1.76;1.76	5.1	5.1	0.69264	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.62756	0.2454	M	0.93197	3.39	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.80764	0.994;0.974;0.985	T	0.72855	-0.4166	10	0.87932	D	0	.	17.8069	0.88604	0.0:1.0:0.0:0.0	.	209;348;337	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	Y	337;348;314;209	ENSP00000262445:S337Y;ENSP00000410402:S348Y	ENSP00000262445:S337Y	S	+	2	0	MAP2K4	11973299	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.597000	0.82733	2.805000	0.96524	0.655000	0.94253	TCC	MAP2K4-002	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000441227.1		+	ENST00000415385.3	Missense_Mutation	SNP	17 : 12032574 - 12032574 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	416	20
ITFG1	81533	broad.mit.edu	37	16	47195737	47195737	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47195737G>A	ENST00000320640.6	-	16	1813	c.1585C>T	c.(1585-1587)Cga>Tga	p.R529*	RP11-329J18.2_ENST00000564705.1_RNA|ITFG1_ENST00000568047.1_5'UTR|ITFG1_ENST00000544001.2_Nonsense_Mutation_p.R416*|RP11-329J18.2_ENST00000565694.1_RNA	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	529						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				TCTTGTTTTCGTATAGACTGG	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	162	166			NA	NA	16		NA											NA				47195737		2202	4300	6502	SO:0001587	stop_gained			AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636	81533	81533			30697	protein-coding gene	gene with protein product	T cell immunomodulatory protein	611803			NA	12598909	Standard	NM_030790	NM_030790	NA	Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.1585C>T	16.37:g.47195737G>A	ENSP00000319918:p.Arg529*	NA	Q96SR4|Q9BRE2|Q9H2V9	37	CCDS10728.1	.	.	.	.	.	.	.	.	.	.	G	38	6.733351	0.97796	.	.	ENSG00000129636	ENST00000320640;ENST00000537184;ENST00000542691;ENST00000544001	.	.	.	5.41	1.6	0.23607	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-4.0712	9.6162	0.39692	0.0707:0.0:0.4397:0.4895	.	.	.	.	X	529;189;274;416	.	ENSP00000319918:R529X	R	-	1	2	ITFG1	45753238	1.000000	0.71417	0.977000	0.42913	0.992000	0.81027	1.485000	0.35519	0.383000	0.24910	0.467000	0.42956	CGA	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256768.3		-	ENST00000320640.6	Nonsense_Mutation	SNP	16 : 47195737 - 47195737 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	615	108
INCENP	3619	broad.mit.edu	37	11	61919402	61919402	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61919402G>A	ENST00000394818.3	+	19	2913	c.2711G>A	c.(2710-2712)gGc>gAc	p.G904D	INCENP_ENST00000278849.4_Missense_Mutation_p.G900D	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	904					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CCCCTGCAGGGCGCCAGGGTC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	37	36			NA	NA	11		NA											NA				61919402		2202	4299	6501	SO:0001583	missense			AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503	3619	3619			6058	protein-coding gene	gene with protein product		604411	inner centromere protein antigens (135kD, 155kD)		NA	1860899, 11453556	Standard	NM_020238	NM_001040694	NA	Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.2711G>A	11.37:g.61919402G>A	ENSP00000378295:p.Gly904Asp	NA	A8MQD2|Q5Y192	37	CCDS44624.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.349411	0.41599	.	.	ENSG00000149503	ENST00000394818;ENST00000278849	T;T	0.15718	2.46;2.4	5.66	0.169	0.15017	.	0.256920	0.27558	N	0.018829	T	0.22627	0.0546	L	0.29908	0.895	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.986	T	0.04900	-1.0919	10	0.72032	D	0.01	.	6.141	0.20259	0.0733:0.3729:0.4324:0.1213	.	900;904	Q9NQS7-2;Q9NQS7	.;INCE_HUMAN	D	904;900	ENSP00000378295:G904D;ENSP00000278849:G900D	ENSP00000278849:G900D	G	+	2	0	INCENP	61675978	0.991000	0.36638	0.069000	0.20011	0.248000	0.25809	2.172000	0.42463	0.016000	0.14998	0.462000	0.41574	GGC	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394723.2		+	ENST00000394818.3	Missense_Mutation	SNP	11 : 61919402 - 61919402 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	306	46
COL5A1	1289	broad.mit.edu	37	9	137727028	137727028	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137727028G>A	ENST00000371817.3	+	65	5762	c.5348G>A	c.(5347-5349)cGc>cAc	p.R1783H		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1783	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCTACATCCGCGCCCTGGTG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	64	67			NA	NA	9		NA											NA				137727028		2203	4300	6503	SO:0001583	missense			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635	1289	1289		Collagens	2209	protein-coding gene	gene with protein product	alpha 1 type V collagen	120215			NA	1572660	Standard	NM_000093	NM_001278074	NA	Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.5348G>A	9.37:g.137727028G>A	ENSP00000360882:p.Arg1783His	NA	Q15094|Q5SUX4	37	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656189	0.47467	.	.	ENSG00000130635	ENST00000371817;ENST00000355306	T	0.73897	-0.79	5.03	1.15	0.20763	Fibrillar collagen, C-terminal (4);	0.096797	0.41605	U	0.000857	T	0.64538	0.2607	L	0.48877	1.53	0.22446	N	0.999096	B	0.14012	0.009	B	0.12837	0.008	T	0.56025	-0.8047	10	0.52906	T	0.07	.	9.8595	0.41105	0.281:0.0:0.719:0.0	.	1783	P20908	CO5A1_HUMAN	H	1783;320	ENSP00000360882:R1783H	ENSP00000347458:R320H	R	+	2	0	COL5A1	136866849	0.998000	0.40836	0.884000	0.34674	0.982000	0.71751	2.669000	0.46825	-0.051000	0.13334	-0.254000	0.11334	CGC	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054954.2		+	ENST00000371817.3	Missense_Mutation	SNP	9 : 137727028 - 137727028 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	231	29
SUCNR1	56670	broad.mit.edu	37	3	151598717	151598717	+	Missense_Mutation	SNP	G	G	A	rs148906217	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151598717G>A	ENST00000362032.5	+	3	491	c.386G>A	c.(385-387)cGa>cAa	p.R129Q	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	NA						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	TATCCTTTCCGAGAACACCTT	0.368		NA											G	2	9e-04	0.0041	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	9e-04	1	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0								G	GLN/ARG	42,4364	45.3+/-79.5	0,42,2161	119	117	118		386	5.2	1	3	dbSNP_134	118	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SUCNR1	NM_033050.4	43	0,44,6459	AA,AG,GG	NA	0.0233,0.9532,0.3383	probably-damaging	129/335	151598717	44,12962	2203	4300	6503	SO:0001583	missense			AF348078	CCDS3162.1	3q25.1	2012-08-21	2004-07-08	2004-07-09	ENSG00000198829	ENSG00000198829	56670	56670		GPCR / Class A : Orphans	4542	protein-coding gene	gene with protein product		606381	G protein-coupled receptor 91	GPR91	NA	11273702, 15141213, 17192395	Standard	NM_033050	NM_033050	NA	Approved		uc003ezf.2	Q9BXA5	OTTHUMG00000159880	ENST00000362032.5:c.386G>A	3.37:g.151598717G>A	ENSP00000355156:p.Arg129Gln	NA	A8K305|Q8TDQ8	37	CCDS3162.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	24.1	4.494259	0.85069	0.009532	2.33E-4	ENSG00000198829	ENST00000362032	T	0.40756	1.02	5.17	5.17	0.71159	GPCR, rhodopsin-like superfamily (1);	0.077402	0.51477	U	0.000095	T	0.49643	0.1569	L	0.56769	1.78	0.36495	D	0.868676	D	0.69078	0.997	P	0.58577	0.841	T	0.60296	-0.7291	10	0.42905	T	0.14	.	19.0545	0.93058	0.0:0.0:1.0:0.0	.	129	Q9BXA5	SUCR1_HUMAN	Q	129	ENSP00000355156:R129Q	ENSP00000355156:R129Q	R	+	2	0	SUCNR1	153081407	1.000000	0.71417	0.996000	0.52242	0.901000	0.52897	4.085000	0.57657	2.586000	0.87340	0.655000	0.94253	CGA	SUCNR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357897.2		+	ENST00000362032.5	Missense_Mutation	SNP	3 : 151598717 - 151598717 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	573	119
RFTN2	130132	broad.mit.edu	37	2	198540075	198540075	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198540075G>A	ENST00000295049.4	-	1	644	c.108C>T	c.(106-108)taC>taT	p.Y36Y		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	NA						plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						ATACATATTCGTAAGCAAATT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	145	143			NA	NA	2		NA											NA				198540075		2203	4300	6503	SO:0001819	synonymous_variant			AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944	130132	130132			26402	protein-coding gene	gene with protein product			chromosome 2 open reading frame 11	C2orf11	NA		Standard	NM_144629	NM_144629	NA	Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.108C>T	2.37:g.198540075G>A		NA	Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	37	CCDS2323.1																																																																																			RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256106.2		-	ENST00000295049.4	Silent	SNP	2 : 198540075 - 198540075 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	833	70
TBC1D32	221322	broad.mit.edu	37	6	121604969	121604969	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:121604969T>C	ENST00000275159.6	-	13	1459	c.1460A>G	c.(1459-1461)cAt>cGt	p.H487R	TBC1D32_ENST00000398212.2_Missense_Mutation_p.H487R					TBC1 domain family, member 32	NA											NA						ATTACCTGAATGGGCAGCTGA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	65	66			NA	NA	6		NA											NA				121604969		1804	4075	5879	SO:0001583	missense			AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350	221322	221322			21485	protein-coding gene	gene with protein product	broad-minded homolog	615867	chromosome 6 open reading frame 171, chromosome 6 open reading frame 170	C6orf171, C6orf170	NA	20159594, 24285566	Standard	NM_152730	NM_152730	NA	Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000275159.6:c.1460A>G	6.37:g.121604969T>C	ENSP00000275159:p.His487Arg	NA		37		.	.	.	.	.	.	.	.	.	.	T	6.435	0.448458	0.12223	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.17691	2.26;2.26	5.1	-0.847	0.10730	.	0.561075	0.17360	N	0.177078	T	0.04588	0.0125	L	0.56769	1.78	0.09310	N	1	B;B	0.29432	0.095;0.244	B;B	0.27608	0.037;0.081	T	0.37798	-0.9690	10	0.25106	T	0.35	-18.8646	5.5271	0.16964	0.0:0.1474:0.2708:0.5818	.	487;487	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	R	487	ENSP00000275159:H487R;ENSP00000381270:H487R	ENSP00000275159:H487R	H	-	2	0	C6orf170	121646668	0.001000	0.12720	0.000000	0.03702	0.038000	0.13279	0.518000	0.22847	-0.043000	0.13513	0.459000	0.35465	CAT	TBC1D32-003	PUTATIVE	non_canonical_conserved|basic	protein_coding	NA	protein_coding	OTTHUMT00000042017.3		-	ENST00000275159.6	Missense_Mutation	SNP	6 : 121604969 - 121604969 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	14
MTRF1	9617	broad.mit.edu	37	13	41791362	41791362	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:41791362T>A	ENST00000379480.4	-	10	1327	c.1227A>T	c.(1225-1227)gaA>gaT	p.E409D	MTRF1_ENST00000379477.1_Missense_Mutation_p.E409D|MTRF1_ENST00000430347.2_Missense_Mutation_p.N458I	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	409					regulation of translational termination	mitochondrion	translation release factor activity, codon specific			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		CACATAAAAATTCCTGGTAAA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	56	55			NA	NA	13		NA											NA				41791362		2203	4300	6503	SO:0001583	missense			AF072934	CCDS9378.1	13q14.1-q14.3	2008-07-18			ENSG00000120662	ENSG00000120662	9617	9617			7469	protein-coding gene	gene with protein product	mitochontrial peptide chain release factor 1	604601			NA	9838146, 10773675	Standard	NM_004294	NM_004294	NA	Approved	RF1, MTTRF1, MGC47721	uc001uxy.3	O75570	OTTHUMG00000016790	ENST00000379480.4:c.1227A>T	13.37:g.41791362T>A	ENSP00000368793:p.Glu409Asp	NA	Q5T6Y5|Q8IUQ6	37	CCDS9378.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.66|12.66	2.005756|2.005756	0.35415|0.35415	.|.	.|.	ENSG00000120662|ENSG00000120662	ENST00000379480;ENST00000379477|ENST00000430347	T;T|T	0.11063|0.10668	2.81;2.81|2.85	5.48|5.48	3.01|3.01	0.34805|0.34805	.|.	0.219776|.	0.45867|.	N|.	0.000340|.	T|T	0.10637|0.10637	0.0260|0.0260	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	P|B	0.36282|0.18013	0.546|0.025	B|B	0.31016|0.14578	0.123|0.011	T|T	0.07770|0.07770	-1.0755|-1.0755	10|9	0.44086|0.41790	T|T	0.13|0.15	-7.3071|-7.3071	5.4177|5.4177	0.16384|0.16384	0.1565:0.0858:0.0:0.7577|0.1565:0.0858:0.0:0.7577	.|.	409|458	O75570|B4DG01	RF1M_HUMAN|.	D|I	409|458	ENSP00000368793:E409D;ENSP00000368790:E409D|ENSP00000400031:N458I	ENSP00000368790:E409D|ENSP00000400031:N458I	E|N	-|-	3|2	2|0	MTRF1|MTRF1	40689362|40689362	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.565000|0.565000	0.35776|0.35776	1.845000|1.845000	0.39279|0.39279	0.871000|0.871000	0.35750|0.35750	0.533000|0.533000	0.62120|0.62120	GAA|AAT	MTRF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044666.3		-	ENST00000379480.4	Missense_Mutation	SNP	13 : 41791362 - 41791362 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	352	62
MYO9A	4649	broad.mit.edu	37	15	72146819	72146819	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72146819A>T	ENST00000564571.1	-	35	6404	c.6245T>A	c.(6244-6246)cTc>cAc	p.L2082H	MYO9A_ENST00000356056.5_Missense_Mutation_p.L2082H|MYO9A_ENST00000424560.1_Missense_Mutation_p.L2153H|MYO9A_ENST00000444904.1_Missense_Mutation_p.L2063H			B2RTY4	MYO9A_HUMAN	myosin IXA	2082	Rho-GAP.|Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTAGTTTATGAGCTTTTCCAC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	136	141			NA	NA	15		NA											NA				72146819		2199	4297	6496	SO:0001583	missense			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933	4649	4649		Myosins / Myosin superfamily : Class IX	7608	protein-coding gene	gene with protein product		604875			NA	10409426	Standard	NM_006901	NM_006901	NA	Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000564571.1:c.6245T>A	15.37:g.72146819A>T	ENSP00000456192:p.Leu2082His	NA	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	37		.	.	.	.	.	.	.	.	.	.	A	29.3	4.993873	0.93167	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	T;T;T	0.21543	2.0;2.0;2.0	5.99	5.99	0.97316	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.	.	.	.	T	0.53997	0.1831	M	0.91818	3.245	0.80722	D	1	D	0.69078	0.997	D	0.63033	0.91	T	0.65212	-0.6223	9	0.87932	D	0	.	16.4719	0.84113	1.0:0.0:0.0:0.0	.	2082	B2RTY4	MYO9A_HUMAN	H	2082;2153;2063	ENSP00000348349:L2082H;ENSP00000399162:L2153H;ENSP00000398250:L2063H	ENSP00000348349:L2082H	L	-	2	0	MYO9A	69933873	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.307000	0.96226	2.292000	0.77174	0.482000	0.46254	CTC	MYO9A-015	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000420905.1		-	ENST00000564571.1	Missense_Mutation	SNP	15 : 72146819 - 72146819 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	650	118
MSTO1	55154	broad.mit.edu	37	1	155582030	155582030	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155582030G>A	ENST00000245564.2	+	8	760	c.736G>A	c.(736-738)Gca>Aca	p.A246T	MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000368341.4_Missense_Mutation_p.A211T|MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000452804.2_Intron	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	246					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					CGCGAAGGCGGCAGAGCTGCT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	44	43			NA	NA	1		NA											NA				155582030		2203	4298	6501	SO:0001583	missense			BX537684	CCDS1114.1	1q22	2013-08-21	2013-08-21		ENSG00000125459	ENSG00000125459	55154	55154			29678	protein-coding gene	gene with protein product			misato homolog 1 (Drosophila)		NA	16545939, 17349998	Standard	NM_018116	NM_018116	NA	Approved	FLJ10504, LST005, MST, misato	uc001fky.4	Q9BUK6	OTTHUMG00000014014	ENST00000245564.2:c.736G>A	1.37:g.155582030G>A	ENSP00000245564:p.Ala246Thr	NA	Q53GR8|Q5CZ69|Q5T717|Q68CT6|Q7LBZ8|Q7Z3M7|Q7Z558|Q8TE05|Q9NQX2|Q9NVU4	37	CCDS1114.1	.	.	.	.	.	.	.	.	.	.	.	3.950	-0.012399	0.07727	.	.	ENSG00000125459	ENST00000245564;ENST00000368341	T;T	0.41758	0.99;0.99	3.17	-2.59	0.06209	Tubulin/FtsZ, GTPase domain (3);	0.261190	0.37178	N	0.002219	T	0.05410	0.0143	N	0.02412	-0.56	0.47584	D	0.999463	B;B;B;B;B;B;B;B	0.09022	0.001;0.0;0.0;0.0;0.002;0.0;0.0;0.001	B;B;B;B;B;B;B;B	0.14023	0.01;0.004;0.002;0.004;0.01;0.002;0.002;0.002	T	0.17623	-1.0363	10	0.48119	T	0.1	.	4.7492	0.13052	0.4891:0.0:0.3635:0.1474	.	191;246;211;246;68;246;246;246	B4DLS9;A8K3J5;Q9BUK6-7;D3DVA3;Q9BUK6-5;Q9BUK6;Q9BUK6-2;Q9BUK6-3	.;.;.;.;.;MSTO1_HUMAN;.;.	T	246;211	ENSP00000245564:A246T;ENSP00000357325:A211T	ENSP00000245564:A246T	A	+	1	0	MSTO1	153848654	0.425000	0.25498	0.009000	0.14445	0.553000	0.35397	1.231000	0.32624	-0.444000	0.07170	0.313000	0.20887	GCA	MSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039408.1		+	ENST00000245564.2	Missense_Mutation	SNP	1 : 155582030 - 155582030 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	431	102
ZNF225	7768	broad.mit.edu	37	19	44636174	44636174	+	Silent	SNP	G	G	A	rs145291466	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44636174G>A	ENST00000262894.6	+	5	1687	c.1407G>A	c.(1405-1407)tcG>tcA	p.S469S	ZNF225_ENST00000590612.1_Silent_p.S469S|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				GCTGGGCCTCGTGTCTTTTGA	0.413		NA											A	2	9e-04	0.0041	NA	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	0.001	0.9547	LOWCOV,EXOME	NA	NA	7e-04	SNP								NA				0								A		15,4387	800.4+/-415.6	0,15,2186	67	72	71		1407	-3.4	0	19	dbSNP_134	71	0,8598		0,0,4299	no	coding-synonymous	ZNF225	NM_013362.2		0,15,6485	AA,AG,GG	NA	0.0,0.3408,0.1154		469/707	44636174	15,12985	2201	4299	6500	SO:0001819	synonymous_variant			AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294	7768	7768		Zinc fingers, C2H2-type, -	13018	protein-coding gene	gene with protein product					NA		Standard		NM_013362	NA	Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.1407G>A	19.37:g.44636174G>A		NA	A8K8S2|Q53F12|Q9NS46|Q9UID8	37	CCDS46100.1																																																																																			ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460581.1		+	ENST00000262894.6	Silent	SNP	19 : 44636174 - 44636174 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	527	111
OLFM2	93145	broad.mit.edu	37	19	9964924	9964924	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9964924C>T	ENST00000264833.4	-	6	1488	c.1303G>A	c.(1303-1305)Ggc>Agc	p.G435S	OLFM2_ENST00000590841.1_Missense_Mutation_p.G357S	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	435	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						ACCTGGTGGCCGTTGTTCCAG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	81	85			NA	NA	19		NA											NA				9964924		2203	4300	6503	SO:0001583	missense			AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088	93145	93145			17189	protein-coding gene	gene with protein product	noelin 2				NA		Standard		NM_058164	NA	Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.1303G>A	19.37:g.9964924C>T	ENSP00000264833:p.Gly435Ser	NA	Q6IMJ3|Q96FC2	37	CCDS12221.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172235	0.78452	.	.	ENSG00000105088	ENST00000264833	D	0.91124	-2.79	4.3	4.3	0.51218	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.95822	0.8640	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96436	0.9323	9	.	.	.	.	14.3013	0.66355	0.0:1.0:0.0:0.0	.	435	O95897	NOE2_HUMAN	S	435	ENSP00000264833:G435S	.	G	-	1	0	OLFM2	9825924	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	7.556000	0.82233	2.204000	0.70986	0.561000	0.74099	GGC	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451119.1		-	ENST00000264833.4	Missense_Mutation	SNP	19 : 9964924 - 9964924 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	422	80
DPP10	57628	broad.mit.edu	37	2	116101463	116101463	+	Silent	SNP	C	C	T	rs143448690		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:116101463C>T	ENST00000410059.1	+	3	726	c.246C>T	c.(244-246)caC>caT	p.H82H	DPP10_ENST00000310323.8_Silent_p.H75H|DPP10_ENST00000393147.2_Silent_p.H86H|DPP10_ENST00000409163.1_Silent_p.H32H	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	82					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTGTGCTTCACGATCCAGAGG	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	88	87			NA	NA	2		NA											NA				116101463		2203	4300	6503	SO:0001819	synonymous_variant			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497	57628	57628			20823	protein-coding gene	gene with protein product		608209	dipeptidylpeptidase 10, dipeptidyl-peptidase 10		NA	10819331, 12662155	Standard	NM_020868	NM_020868	NA	Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.246C>T	2.37:g.116101463C>T		NA	A8K1Q2|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	37	CCDS46400.1																																																																																			DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330580.4		+	ENST00000410059.1	Silent	SNP	2 : 116101463 - 116101463 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	391	71
SEC13	6396	broad.mit.edu	37	3	10342953	10342953	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10342953C>T	ENST00000397117.1	-	9	1405				SEC13_ENST00000350697.3_Missense_Mutation_p.E321K|SEC13_ENST00000492602.1_Intron|SEC13_ENST00000337354.4_Missense_Mutation_p.E324K|SEC13_ENST00000383801.2_Missense_Mutation_p.E367K|SEC13_ENST00000397109.3_Missense_Mutation_p.E307K			P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	NA					COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						TGTCACTGCTCGTTCTGCTGG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	84	91			NA	NA	3		NA											NA				10342953		2203	4300	6503	SO:0001627	intron_variant				CCDS2599.1, CCDS46751.1, CCDS63540.1	3p25-p24	2013-01-10	2006-11-07	2006-11-07	ENSG00000157020	ENSG00000157020	6396	6396		WD repeat domain containing	10697	protein-coding gene	gene with protein product		600152	SEC13 (S. cerevisiae)-like 1, SEC13-like 1 (S. cerevisiae)	D3S1231E, SEC13L1	NA	7987303	Standard		NM_183352	NA	Approved	SEC13R, npp-20	uc003bvn.3	P55735	OTTHUMG00000128671	ENST00000397117.1:c.814-122G>A	3.37:g.10342953C>T		NA	Q5BJF0|Q9BRM6|Q9BUG7	37		.	.	.	.	.	.	.	.	.	.	C	25.2	4.616837	0.87359	.	.	ENSG00000157020	ENST00000397109;ENST00000337354;ENST00000350697;ENST00000383801	T;T;T;T	0.68479	0.93;-0.21;-0.33;-0.33	5.23	5.23	0.72850	.	0.102103	0.64402	D	0.000002	T	0.58807	0.2148	L	0.50333	1.59	0.80722	D	1	P;B	0.38827	0.649;0.203	B;B	0.28991	0.097;0.012	T	0.65869	-0.6063	10	0.62326	D	0.03	.	16.3231	0.82958	0.0:1.0:0.0:0.0	.	367;321	B4DXJ1;P55735	.;SEC13_HUMAN	K	307;324;321;367	ENSP00000380298:E307K;ENSP00000336566:E324K;ENSP00000312122:E321K;ENSP00000373312:E367K	ENSP00000336566:E324K	E	-	1	0	SEC13	10317953	1.000000	0.71417	0.996000	0.52242	0.950000	0.60333	7.696000	0.84270	2.433000	0.82419	0.655000	0.94253	GAG	SEC13-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000314429.1		-	ENST00000397117.1	Intron	SNP	3 : 10342953 - 10342953 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	384	89
GK2	2712	broad.mit.edu	37	4	80329323	80329323	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:80329323G>A	ENST00000358842.3	-	1	49	c.32C>T	c.(31-33)cCg>cTg	p.P11L		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	11					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TCCCACCAACGGCCCCACAGC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	32	32			NA	NA	4		NA											NA				80329323		2203	4300	6503	SO:0001583	missense			BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475	2712	2712		Glycerol kinases	4291	protein-coding gene	gene with protein product		600148	glycerol kinase pseudogene 2	GKP2	NA	7987308	Standard	NM_033214	NM_033214	NA	Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.32C>T	4.37:g.80329323G>A	ENSP00000351706:p.Pro11Leu	NA	A8K876|Q6PD73|Q86XV8	37	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645546	0.29246	.	.	ENSG00000196475	ENST00000358842	T	0.14640	2.49	3.74	2.89	0.33648	.	0.183018	0.48286	D	0.000186	T	0.19046	0.0457	L	0.56280	1.765	0.80722	D	1	D	0.58970	0.984	P	0.50109	0.631	T	0.01440	-1.1354	10	0.66056	D	0.02	-6.7856	9.5498	0.39304	0.1063:0.0:0.8937:0.0	.	11	Q14410	GLPK2_HUMAN	L	11	ENSP00000351706:P11L	ENSP00000351706:P11L	P	-	2	0	GK2	80548347	1.000000	0.71417	0.904000	0.35570	0.600000	0.36913	5.242000	0.65389	1.160000	0.42584	0.460000	0.39030	CCG	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252517.2		-	ENST00000358842.3	Missense_Mutation	SNP	4 : 80329323 - 80329323 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	240	32
WDR46	9277	broad.mit.edu	37	6	33247071	33247071	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33247071C>A	ENST00000374617.4	-	15	2171	c.1815G>T	c.(1813-1815)ctG>ctT	p.L605L	B3GALT4_ENST00000606990.1_Intron	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	605										NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						CAAATCTGTCCAGGGCAGATG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	98	95			NA	NA	6		NA											NA				33247071		2203	4300	6503	SO:0001819	synonymous_variant			Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057	9277	9277		WD repeat domain containing	13923	protein-coding gene	gene with protein product		611440	chromosome 6 open reading frame 11	C6orf11	NA	9545376, 9521053	Standard	NM_005452	NM_005452	NA	Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.1815G>T	6.37:g.33247071C>A		NA	A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	37	CCDS4772.1																																																																																			WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076382.2		-	ENST00000374617.4	Silent	SNP	6 : 33247071 - 33247071 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	816	26
CD84	8832	broad.mit.edu	37	1	160535424	160535424	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160535424G>T	ENST00000368054.3	-	2	193	c.158C>A	c.(157-159)gCt>gAt	p.A53D	CD84_ENST00000368048.3_Missense_Mutation_p.A53D|CD84_ENST00000311224.4_Missense_Mutation_p.A53D|CD84_ENST00000368051.3_Missense_Mutation_p.A53D|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000534968.1_Intron|CD84_ENST00000368047.3_5'UTR	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	53					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AGAAGTCCAAGCAATGATTTT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	113	115			NA	NA	1		NA											NA				160535424		2203	4300	6503	SO:0001583	missense			AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294	8832	8832		CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	1704	protein-coding gene	gene with protein product		604513	CD84 antigen (leukocyte antigen), CD84 molecule 		NA	9310491	Standard	NM_003874	NM_003874	NA	Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000368054.3:c.158C>A	1.37:g.160535424G>T	ENSP00000357033:p.Ala53Asp	NA	B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	37	CCDS1206.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.457780	0.26161	.	.	ENSG00000066294	ENST00000368054;ENST00000368048;ENST00000311224;ENST00000368051;ENST00000360056;ENST00000368047	T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95	5.11	-0.318	0.12728	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.821648	0.11607	N	0.547213	T	0.04815	0.0130	L	0.39020	1.185	0.09310	N	0.999999	D;P;P;B;P;P	0.56035	0.974;0.596;0.763;0.395;0.53;0.53	P;B;B;B;B;B	0.44518	0.452;0.079;0.117;0.053;0.114;0.114	T	0.20273	-1.0280	10	0.18276	T	0.48	-2.547	3.1063	0.06342	0.2666:0.0:0.4121:0.3212	.	53;53;53;53;53;53	Q9UIB8-5;Q9UIB8-6;Q9UIB8-4;Q9UIB8;Q9UIB8-2;Q9UIB8-3	.;.;.;SLAF5_HUMAN;.;.	D	53	ENSP00000357033:A53D;ENSP00000357027:A53D;ENSP00000312367:A53D;ENSP00000357030:A53D;ENSP00000353163:A53D;ENSP00000357026:A53D	ENSP00000312367:A53D	A	-	2	0	CD84	158802048	0.020000	0.18652	0.228000	0.23943	0.038000	0.13279	0.261000	0.18442	0.119000	0.18210	0.591000	0.81541	GCT	CD84-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059090.1		-	ENST00000368054.3	Missense_Mutation	SNP	1 : 160535424 - 160535424 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	587	22
TSPAN17	26262	broad.mit.edu	37	5	176083112	176083112	+	Missense_Mutation	SNP	G	G	A	rs142689576	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176083112G>A	ENST00000503045.1	+	6	602	c.547G>A	c.(547-549)Gtc>Atc	p.V183I	TSPAN17_ENST00000508164.1_Missense_Mutation_p.V206I|TSPAN17_ENST00000515708.1_Missense_Mutation_p.V206I|TSPAN17_ENST00000310032.8_Missense_Mutation_p.V206I|TSPAN17_ENST00000405525.2_Missense_Mutation_p.V206I|TSPAN17_ENST00000298564.10_Missense_Mutation_p.V98I			Q96FV3	TSN17_HUMAN	tetraspanin 17	206						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGCTACGACGTCCGGCTCAA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ILE/VAL,ILE/VAL,ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	89	72	78		616,616,616	1.3	0.1	5	dbSNP_134	78	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	TSPAN17	NM_001006616.2,NM_012171.2,NM_130465.4	29,29,29	0,4,6499	AA,AG,GG	NA	0.0233,0.0454,0.0308	benign,benign,benign	206/264,206/333,206/330	176083112	4,13002	2203	4300	6503	SO:0001583	missense			AF174603	CCDS34298.1, CCDS47346.1, CCDS47346.2, CCDS54952.1	5q35.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000048140	ENSG00000048140	26262	26262		Tetraspanins	13594	protein-coding gene	gene with protein product			F-box only protein 23, transmembrane 4 superfamily member 17	FBXO23, TM4SF17	NA	10531035, 10531037	Standard		NM_012171	NA	Approved	FBX23	uc003met.3	Q96FV3	OTTHUMG00000163230	ENST00000503045.1:c.547G>A	5.37:g.176083112G>A	ENSP00000425212:p.Val183Ile	NA	Q6NXF7|Q96S98|Q9UKB9	37		.	.	.	.	.	.	.	.	.	.	G	10.53	1.376203	0.24857	4.54E-4	2.33E-4	ENSG00000048140	ENST00000310032;ENST00000405525;ENST00000298564;ENST00000508164;ENST00000504168;ENST00000503045;ENST00000515708	T;T;T;T;T;T;T	0.79653	-1.2;-1.2;-1.29;-1.25;-1.25;-1.2;-1.25	5.07	1.26	0.21427	Tetraspanin, EC2 domain (1);	0.130386	0.50627	N	0.000102	T	0.69646	0.3134	L	0.44542	1.39	0.37742	D	0.925641	B;B;B;B;B	0.29805	0.257;0.003;0.048;0.025;0.037	B;B;B;B;B	0.27262	0.078;0.003;0.032;0.025;0.013	T	0.62181	-0.6908	10	0.42905	T	0.14	-0.7924	8.5656	0.33538	0.3323:0.0:0.6677:0.0	.	206;206;206;206;98	Q96FV3-3;C9J7R4;Q96FV3-4;Q96FV3;Q96FV3-2	.;.;.;TSN17_HUMAN;.	I	206;206;98;206;194;183;206	ENSP00000309036:V206I;ENSP00000385665:V206I;ENSP00000298564:V98I;ENSP00000422053:V206I;ENSP00000423957:V194I;ENSP00000425212:V183I;ENSP00000426650:V206I	ENSP00000298564:V98I	V	+	1	0	TSPAN17	176015718	0.878000	0.30173	0.067000	0.19924	0.654000	0.38779	1.159000	0.31749	-0.059000	0.13154	0.561000	0.74099	GTC	TSPAN17-008	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000372215.1		+	ENST00000503045.1	Missense_Mutation	SNP	5 : 176083112 - 176083112 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	392	101
CPAMD8	27151	broad.mit.edu	37	19	17132946	17132946	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17132946C>A	ENST00000443236.1	-	2	310	c.279G>T	c.(277-279)gaG>gaT	p.E93D	CPAMD8_ENST00000388925.4_Missense_Mutation_p.E46D	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	46						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGATGACTTCCTCCACGCCCG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	36	36			NA	NA	19		NA											NA				17132946		1953	4139	6092	SO:0001583	missense			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111	27151	27151			23228	protein-coding gene	gene with protein product		608841			NA	10574462	Standard	NM_015692	NM_015692	NA	Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.279G>T	19.37:g.17132946C>A	ENSP00000402505:p.Glu93Asp	NA	Q8NC09|Q9ULD7	37	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.64|12.64	1.997869|1.997869	0.35226|0.35226	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000291440;ENST00000388925|ENST00000443236	T;T|.	0.53640|.	0.61;0.62|.	3.06|3.06	2.0|2.0	0.26442|0.26442	.|.	0.317597|.	0.24012|.	U|.	0.042378|.	T|T	0.44222|0.44222	0.1283|0.1283	L|L	0.52759|0.52759	1.655|1.655	0.31172|0.31172	N|N	0.703042|0.703042	B|.	0.22276|.	0.067|.	B|.	0.15052|.	0.012|.	T|T	0.47182|0.47182	-0.9137|-0.9137	10|5	0.23302|.	T|.	0.38|.	.|.	6.1895|6.1895	0.20516|0.20516	0.0:0.7583:0.0:0.2417|0.0:0.7583:0.0:0.2417	.|.	46|.	Q8IZJ3|.	CPMD8_HUMAN|.	D|M	93;46|104	ENSP00000291440:E93D;ENSP00000373577:E46D|.	ENSP00000291440:E93D|.	E|R	-|-	3|2	2|0	CPAMD8|CPAMD8	16993946|16993946	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.795000|0.795000	0.44927|0.44927	2.502000|2.502000	0.45398|0.45398	0.290000|0.290000	0.22444|0.22444	-0.229000|-0.229000	0.12294|0.12294	GAG|AGG	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257531.2		-	ENST00000443236.1	Missense_Mutation	SNP	19 : 17132946 - 17132946 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	86	23
GPR113	165082	broad.mit.edu	37	2	26534302	26534302	+	Missense_Mutation	SNP	G	G	A	rs116030611	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26534302G>A	ENST00000333478.6	-	8	2279	c.1697C>T	c.(1696-1698)cCg>cTg	p.P566L	GPR113_ENST00000421160.2_Missense_Mutation_p.P696L|GPR113_ENST00000541401.1_Missense_Mutation_p.P368L|GPR113_ENST00000311519.1_Missense_Mutation_p.P765L|GPR113_ENST00000459892.1_5'UTR	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	765					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGTTCTTCCGGAACAGTGTG	0.627		NA											G	23	0.01	0.03	0.0028	2184	0.01	0.9999	,	,	NA	3e-04	0.0013	NA	NA	0.0106	0.9961	LOWCOV,EXOME	NA	NA	7e-04	SNP								NA				0								G	LEU/PRO,LEU/PRO,LEU/PRO	108,4298	84.4+/-122.9	2,104,2097	98	110	106		2294,2087,1697	3.1	0	2	dbSNP_132	106	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	GPR113	NM_001145168.1,NM_001145169.1,NM_153835.3	98,98,98	2,106,6395	AA,AG,GG	NA	0.0233,2.4512,0.8458	probably-damaging,probably-damaging,probably-damaging	765/1080,696/998,566/874	26534302	110,12896	2203	4300	6503	SO:0001583	missense			AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567	165082	165082		-, GPCR / Class B : Orphans	18989	protein-coding gene	gene with protein product					NA	12435584	Standard	NM_153835	NM_153835	NA	Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000333478.6:c.1697C>T	2.37:g.26534302G>A	ENSP00000327396:p.Pro566Leu	NA	Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	37	CCDS33159.2	23	0.010531135531135532	17	0.034552845528455285	1	0.0027624309392265192	4	0.006993006993006993	1	0.0013192612137203166	G	10.27	1.303444	0.23736	0.024512	2.33E-4	ENSG00000173567	ENST00000541401;ENST00000333478;ENST00000421160;ENST00000311519	T;T;T;T	0.33654	1.42;1.42;1.44;1.4	5.85	3.1	0.35709	.	.	.	.	.	T	0.20007	0.0481	M	0.63843	1.955	0.19945	N	0.999947	P;P;P;D	0.60160	0.807;0.931;0.886;0.987	B;B;B;P	0.53224	0.265;0.354;0.253;0.721	T	0.11743	-1.0575	9	0.54805	T	0.06	-4.4339	5.0572	0.14539	0.154:0.0:0.5522:0.2938	.	696;566;765;368	E9PEV1;Q8IZF5-2;Q8IZF5;F5H1E4	.;.;GP113_HUMAN;.	L	368;566;696;765	ENSP00000445729:P368L;ENSP00000327396:P566L;ENSP00000388537:P696L;ENSP00000307831:P765L	ENSP00000307831:P765L	P	-	2	0	GPR113	26387806	0.271000	0.24162	0.006000	0.13384	0.001000	0.01503	2.436000	0.44819	0.406000	0.25560	-0.141000	0.14075	CCG	GPR113-009	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317218.1		-	ENST00000333478.6	Missense_Mutation	SNP	2 : 26534302 - 26534302 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	776	209
NSFL1C	55968	broad.mit.edu	37	20	1438856	1438856	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1438856C>T	ENST00000216879.4	-	3	1134	c.267G>A	c.(265-267)gaG>gaA	p.E89E	NSFL1C_ENST00000381658.4_Missense_Mutation_p.R10K|NSFL1C_ENST00000350991.4_Silent_p.E89E|NSFL1C_ENST00000353088.2_Silent_p.E89E|NSFL1C_ENST00000476071.1_Silent_p.E89E	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	89	Poly-Glu.					chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						TCTGGCCTTCCTCTTCCTCCT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	126	133			NA	NA	20		NA											NA				1438856		2203	4300	6503	SO:0001819	synonymous_variant			AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833	55968	55968		UBX domain containing	15912	protein-coding gene	gene with protein product	SHP1 homolog (S. cerevisiae), UBX domain protein 2C	606610			NA	11042152	Standard	NM_016143	NM_016143	NA	Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.267G>A	20.37:g.1438856C>T		NA	A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	37	CCDS13015.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004086	0.54254	.	.	ENSG00000088833	ENST00000381658	T	0.41400	1.0	5.16	-4.07	0.03975	.	.	.	.	.	T	0.27697	0.0681	.	.	.	0.21020	N	0.9998	B	0.02656	0.0	B	0.04013	0.001	T	0.21143	-1.0254	8	0.31617	T	0.26	-8.9849	13.2385	0.59983	0.0:0.3723:0.0:0.6277	.	10	Q9UNZ2-6	.	K	10	ENSP00000371074:R10K	ENSP00000371074:R10K	R	-	2	0	NSFL1C	1386856	0.174000	0.23070	0.729000	0.30791	0.934000	0.57294	-0.711000	0.05019	-0.684000	0.05183	0.655000	0.94253	AGG	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077525.2		-	ENST00000216879.4	Silent	SNP	20 : 1438856 - 1438856 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	559	95
RND3	390	broad.mit.edu	37	2	151326722	151326722	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:151326722C>T	ENST00000375734.2	-	5	763	c.514G>A	c.(514-516)Gct>Act	p.A172T	RND3_ENST00000263895.4_Missense_Mutation_p.A172T|RND3_ENST00000409557.1_Missense_Mutation_p.A43T	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	172					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		ATATAAGTAGCTGCTCCAATC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	86	88			NA	NA	2		NA											NA				151326722		2203	4300	6503	SO:0001583	missense				CCDS2190.1	2q23.3	2008-02-05	2005-01-24	2005-01-27	ENSG00000115963	ENSG00000115963	390	390			671	protein-coding gene	gene with protein product		602924	ras homolog gene family, member E	ARHE	NA	8649376	Standard	NM_005168	NM_001254738	NA	Approved	RhoE, Rho8	uc002txe.3	P61587	OTTHUMG00000131859	ENST00000375734.2:c.514G>A	2.37:g.151326722C>T	ENSP00000364886:p.Ala172Thr	NA	D3DP95|P52199	37	CCDS2190.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952131	0.73787	.	.	ENSG00000115963	ENST00000375734;ENST00000263895;ENST00000409557	T;T;T	0.77229	-1.08;-1.08;-1.08	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.79919	0.4529	N	0.12853	0.265	0.80722	D	1	D;D;D	0.60575	0.988;0.976;0.976	D;P;P	0.73708	0.981;0.625;0.697	T	0.83249	-0.0054	10	0.66056	D	0.02	-3.7331	19.0713	0.93138	0.0:1.0:0.0:0.0	.	35;171;172	B4DSG7;D3DP96;P61587	.;.;RND3_HUMAN	T	172;172;43	ENSP00000364886:A172T;ENSP00000263895:A172T;ENSP00000386576:A43T	ENSP00000263895:A172T	A	-	1	0	RND3	151034968	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.793000	0.85851	2.751000	0.94390	0.650000	0.86243	GCT	RND3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254809.1		-	ENST00000375734.2	Missense_Mutation	SNP	2 : 151326722 - 151326722 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	454	118
DPF2	5977	broad.mit.edu	37	11	65113213	65113213	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65113213C>T	ENST00000415073.2	+	5	497				DPF2_ENST00000528416.1_Silent_p.G238G|DPF2_ENST00000252268.4_Silent_p.G252G|DPF2_ENST00000532264.1_3'UTR			Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	NA					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						AGGAGGAGGGCGAGGACAAGG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	67	70			NA	NA	11		NA											NA				65113213		2201	4297	6498	SO:0001627	intron_variant			U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884	5977	5977		Zinc fingers, PHD-type	9964	protein-coding gene	gene with protein product		601671	requiem, apoptosis response zinc finger gene	REQ	NA	11845289	Standard	NM_006268	NM_006268	NA	Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000415073.2:c.466-3108C>T	11.37:g.65113213C>T		NA	A8K7C9	37		.	.	.	.	.	.	.	.	.	.	c	8.255	0.809838	0.16537	.	.	ENSG00000133884	ENST00000531989	D	0.91068	-2.78	5.24	-10.2	0.00374	.	.	.	.	.	D	0.91016	0.7174	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.91055	0.4881	6	0.87932	D	0	-24.6152	13.2977	0.60307	0.0867:0.1833:0.0:0.7299	.	.	.	.	V	1	ENSP00000435887:A1V	ENSP00000435887:A1V	A	+	2	0	DPF2	64869789	0.000000	0.05858	0.034000	0.17996	0.673000	0.39480	-4.528000	0.00220	-2.294000	0.00663	-1.982000	0.00454	GCG	DPF2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000387294.2		+	ENST00000415073.2	Intron	SNP	11 : 65113213 - 65113213 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	262	60
MAATS1	89876	broad.mit.edu	37	3	119427480	119427480	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119427480T>G	ENST00000273390.5	+	4	479	c.402T>G	c.(400-402)gaT>gaG	p.D134E	MAATS1_ENST00000463700.1_Missense_Mutation_p.D134E	NM_033364.3	NP_203528			MYCBP-associated, testis expressed 1	NA											NA						TTTATGAAGATCCTGAAGTTA	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	61	59			NA	NA	3		NA											NA				119427480		2202	4290	6492	SO:0001583	missense			AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833	89876	89876			24010	protein-coding gene	gene with protein product	AMY-1-associating protein expressed in testis 1, MYCBP-binding protein, spermatogenesis associated 26	609910	chromosome 3 open reading frame 15, MYCBP/AMY-1-associated, testis expressed 1	C3orf15	NA	12223483, 14551891, 17967944	Standard	NM_033364	NM_033364	NA	Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.402T>G	3.37:g.119427480T>G	ENSP00000273390:p.Asp134Glu	NA		37	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	T	11.32	1.605122	0.28623	.	.	ENSG00000183833	ENST00000383667;ENST00000273390;ENST00000463700	T;T	0.44083	1.95;0.93	5.98	3.67	0.42095	.	0.276819	0.40818	N	0.001016	T	0.57051	0.2027	M	0.65975	2.015	0.27480	N	0.952606	B;P;D;D;D	0.89917	0.087;0.532;0.996;0.996;1.0	B;B;D;D;D	0.77557	0.108;0.122;0.946;0.99;0.974	T	0.46034	-0.9220	10	0.33940	T	0.23	-0.2104	10.004	0.41946	0.0:0.1242:0.0:0.8758	.	134;72;134;134;134	Q7Z4T9;Q7Z4T9-3;Q4G0Y0;Q7Z4T9-7;Q7Z4T9-2	AAT1_HUMAN;.;.;.;.	E	134	ENSP00000273390:D134E;ENSP00000419489:D134E	ENSP00000273390:D134E	D	+	3	2	C3orf15	120910170	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.310000	0.33551	2.289000	0.77006	0.533000	0.62120	GAT	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355222.1		+	ENST00000273390.5	Missense_Mutation	SNP	3 : 119427480 - 119427480 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	273	19
TCN2	6948	broad.mit.edu	37	22	31011607	31011607	+	Missense_Mutation	SNP	T	T	A	rs113331651		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31011607T>A	ENST00000405742.3	+	6	941	c.761T>A	c.(760-762)aTg>aAg	p.M254K	TCN2_ENST00000407817.3_Missense_Mutation_p.M231K|TCN2_ENST00000215838.3_Missense_Mutation_p.M258K	NM_000355.3	NP_000346.2	P20062	TCO2_HUMAN	transcobalamin II	258					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACTTCCCCCATGCGTGGGGCA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	58	60			NA	NA	22		NA											NA				31011607		2203	4300	6503	SO:0001583	missense				CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339	6948	6948			11653	protein-coding gene	gene with protein product	macrocytic anemia	613441	transcobalamin II; macrocytic anemia		NA	1708393, 7742531	Standard	NM_000355	NM_000355	NA	Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000405742.3:c.761T>A	22.37:g.31011607T>A	ENSP00000385914:p.Met254Lys	NA	Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	37		.	.	.	.	.	.	.	.	.	.	T	0.195	-1.050182	0.01981	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.32023	1.47;1.47;1.47	5.31	-7.28	0.01456	.	1.154450	0.05920	N	0.633364	T	0.14830	0.0358	L	0.31294	0.92	0.09310	N	1	B;B;B	0.12630	0.006;0.0;0.0	B;B;B	0.12837	0.008;0.0;0.0	T	0.34775	-0.9815	10	0.06099	T	0.92	0.7059	5.9433	0.19205	0.1018:0.4803:0.1114:0.3065	.	231;254;258	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	K	258;254;231	ENSP00000215838:M258K;ENSP00000385914:M254K;ENSP00000384914:M231K	ENSP00000215838:M258K	M	+	2	0	TCN2	29341607	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.184000	0.09698	-1.590000	0.01623	-0.441000	0.05720	ATG	TCN2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000321283.1		+	ENST00000405742.3	Missense_Mutation	SNP	22 : 31011607 - 31011607 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	264	44
AKAP9	10142	broad.mit.edu	37	7	91709392	91709392	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91709392C>T	ENST00000356239.3	+	31	8178	c.7945C>T	c.(7945-7947)Cta>Tta	p.L2649L	AKAP9_ENST00000358100.2_Silent_p.L2661L|AKAP9_ENST00000359028.2_Silent_p.L2661L	NM_005751.4|NM_147185.2	NP_005742.4|NP_671714.1	Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2661	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACTACAGAAGCTATTGGAGGG	0.308		NA	T	BRAF	papillary thyroid									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													20	22	22			NA	NA	7		NA											NA				91709392		2090	4242	6332	SO:0001819	synonymous_variant			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914	10142	10142		A-kinase anchor proteins, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	379	protein-coding gene	gene with protein product	A-kinase anchoring protein 450, AKAP9-BRAF fusion protein, AKAP120-like protein, centrosome- and golgi-localized protein kinase N-associated protein, protein kinase A anchoring protein 9, A-kinase anchor protein, 350kDa, protein phosphatase 1, regulatory subunit 45, yotiao	604001			NA	9482789, 10390370, 24475373	Standard	NM_005751	NM_147185	NA	Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000356239.3:c.7945C>T	7.37:g.91709392C>T		NA	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	37	CCDS5622.1																																																																																			AKAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253808.2		+	ENST00000356239.3	Silent	SNP	7 : 91709392 - 91709392 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	208	47
HMCN1	83872	broad.mit.edu	37	1	186088957	186088957	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186088957G>A	ENST00000271588.4	+	79	12266	c.12037G>A	c.(12037-12039)Ggg>Agg	p.G4013R	HMCN1_ENST00000367492.2_Missense_Mutation_p.G4013R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4013	Ig-like C2-type 39.				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						TGAAGCAACAGGGACACCCAG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	94	96			NA	NA	1		NA											NA				186088957		2203	4300	6503	SO:0001583	missense			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.12037G>A	1.37:g.186088957G>A	ENSP00000271588:p.Gly4013Arg	NA	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.718089	0.89205	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.79940	-1.32;-1.32	5.66	5.66	0.87406	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94245	0.8152	H	0.99169	4.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95968	0.8967	10	0.72032	D	0.01	.	15.5677	0.76306	0.0:0.1373:0.8627:0.0	.	4013	Q96RW7	HMCN1_HUMAN	R	4013	ENSP00000271588:G4013R;ENSP00000356462:G4013R	ENSP00000271588:G4013R	G	+	1	0	HMCN1	184355580	1.000000	0.71417	0.787000	0.31911	0.896000	0.52359	7.807000	0.86032	2.830000	0.97506	0.585000	0.79938	GGG	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131848.1		+	ENST00000271588.4	Missense_Mutation	SNP	1 : 186088957 - 186088957 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	407	104
BCOR	54880	broad.mit.edu	37	X	39931785	39931785	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:39931785G>T	ENST00000342274.4	-	4	3176	c.2814C>A	c.(2812-2814)acC>acA	p.T938T	BCOR_ENST00000397354.3_Silent_p.T938T|BCOR_ENST00000378455.4_Silent_p.T938T|BCOR_ENST00000378444.4_Silent_p.T938T	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	938					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.Y939fs*7(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CTTTGGTATAGGTGGGGGTCA	0.507		NA	F, N, S, T	RARA	retinoblastoma, AML, APL(translocation)		oculo-facio-cardio-dental genetic							NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		1	Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)											72	57	62			NA	NA	X		NA											NA				39931785		2202	4300	6502	SO:0001819	synonymous_variant			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337	54880	54880		Ankyrin repeat domain containing	20893	protein-coding gene	gene with protein product		300485	BCL6 co-repressor		NA	10898795	Standard	NM_017745	NM_017745	NA	Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000342274.4:c.2814C>A	X.37:g.39931785G>T		NA	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	37	CCDS14250.1																																																																																			BCOR-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060670.1		-	ENST00000342274.4	Silent	SNP	X : 39931785 - 39931785 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	214	29
HSPG2	3339	broad.mit.edu	37	1	22222460	22222460	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22222460C>A	ENST00000374695.3	-	3	279		c.e3-1			NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	NA					angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCCAGGTCGTCTATAAGCAAA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	51	51			NA	NA	1		NA											NA				22222460		2203	4300	6503	SO:0001630	splice_region_variant			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798	3339	3339		Proteoglycans / Extracellular Matrix : Other, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	5273	protein-coding gene	gene with protein product	perlecan proteoglycan	142461	Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)	SJS1	NA	1685141, 11941538	Standard	NM_005529	XM_005245863	NA	Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.200-1G>T	1.37:g.22222460C>A		NA	Q16287|Q5SZI3|Q9H3V5	37	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	6.097	0.386085	0.11524	.	.	ENSG00000142798	ENST00000374695;ENST00000412328;ENST00000439717	.	.	.	4.72	3.8	0.43715	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0717	0.42337	0.2007:0.7993:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HSPG2	22095047	1.000000	0.71417	0.944000	0.38274	0.062000	0.15995	3.531000	0.53546	1.192000	0.43071	-0.195000	0.12781	.	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007598.1	Intron	-	ENST00000374695.3	Splice_Site	SNP	1 : 22222460 - 22222460 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	170	37
ERBB2	2064	broad.mit.edu	37	17	37883966	37883966	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37883966G>A	ENST00000584450.1	+	0	3399				ERBB2_ENST00000540147.1_Missense_Mutation_p.R1116Q|ERBB2_ENST00000269571.5_Missense_Mutation_p.R1146Q|ERBB2_ENST00000541774.1_Missense_Mutation_p.R1131Q|ERBB2_ENST00000584601.1_Missense_Mutation_p.R1116Q|ERBB2_ENST00000406381.2_Missense_Mutation_p.R1116Q|ERBB2_ENST00000445658.2_Missense_Mutation_p.R870Q			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	NA					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CCAGATGTTCGGCCCCAGCCC	0.622		1	A, Mis, O		breast, ovarian, other tumour types, NSCLC, gastric					TCGA GBM(5;<1E-08)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		17	17q21.1	2064	v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)		E	0													38	46	43			NA	NA	17		NA											NA				37883966		2203	4300	6503	SO:0001624	3_prime_UTR_variant			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736	2064	2064		CD molecules	3430	protein-coding gene	gene with protein product	neuro/glioblastoma derived oncogene homolog	164870	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)	NGL	NA		Standard		XM_005257140	NA	Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000584450.1:c.*16G>A	17.37:g.37883966G>A		NA	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4	37		.	.	.	.	.	.	.	.	.	.	G	2.279	-0.365160	0.05103	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.75154	-0.91;-0.91;-0.89;-0.91;-0.91	5.06	-1.24	0.09435	.	.	.	.	.	T	0.62380	0.2423	L	0.44542	1.39	0.09310	N	1	B;B;B	0.10296	0.002;0.001;0.003	B;B;B	0.06405	0.002;0.002;0.001	T	0.47711	-0.9096	9	0.24483	T	0.36	.	9.9529	0.41649	0.4335:0.0:0.5665:0.0	.	870;1131;1146	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	Q	1116;1131;870;1146;1116	ENSP00000385185:R1116Q;ENSP00000446466:R1131Q;ENSP00000404047:R870Q;ENSP00000269571:R1146Q;ENSP00000443562:R1116Q	ENSP00000269571:R1146Q	R	+	2	0	ERBB2	35137492	0.000000	0.05858	0.068000	0.19968	0.277000	0.26821	0.169000	0.16641	-0.072000	0.12864	0.455000	0.32223	CGG	ERBB2-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000445618.1		+	ENST00000584450.1	3'UTR	SNP	17 : 37883966 - 37883966 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	222	55
AP1G2	8906	broad.mit.edu	37	14	24033058	24033058	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24033058G>T	ENST00000308724.5	-	11	1854	c.1099C>A	c.(1099-1101)Ctg>Atg	p.L367M	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.L367M	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	367					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CTTAGTTCCAGGGCTCTCCTG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	56	58			NA	NA	14		NA											NA				24033058		2203	4300	6503	SO:0001583	missense			AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983	8906	8906			556	protein-coding gene	gene with protein product		603534			NA	9733768, 9762922	Standard	NM_003917	XM_005268167	NA	Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.1099C>A	14.37:g.24033058G>T	ENSP00000312442:p.Leu367Met	NA	D3DS51|O75504	37	CCDS9602.1	.	.	.	.	.	.	.	.	.	.	G	8.754	0.921950	0.17982	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000545295;ENST00000535852	T;T	0.39997	1.05;1.05	4.71	3.82	0.43975	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000004	T	0.33440	0.0863	N	0.25144	0.715	0.53688	D	0.999977	P;P	0.41597	0.605;0.756	B;P	0.48704	0.264;0.587	T	0.06716	-1.0811	10	0.29301	T	0.29	-8.8989	6.1505	0.20308	0.0953:0.0:0.722:0.1827	.	367;222	O75843;Q86V28	AP1G2_HUMAN;.	M	367;367;136;222	ENSP00000312442:L367M;ENSP00000380309:L367M	ENSP00000312442:L367M	L	-	1	2	AP1G2	23102898	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.203000	0.42752	1.180000	0.42898	0.557000	0.71058	CTG	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071812.4		-	ENST00000308724.5	Missense_Mutation	SNP	14 : 24033058 - 24033058 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	357	47
SLC26A6	65010	broad.mit.edu	37	3	48670820	48670820	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48670820G>T	ENST00000455886.2	-	3	233	c.186C>A	c.(184-186)tgC>tgA	p.C62*	SLC26A6_ENST00000420764.2_Nonsense_Mutation_p.C62*|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000337000.8_Nonsense_Mutation_p.C62*|SLC26A6_ENST00000395550.2_Nonsense_Mutation_p.C62*|SLC26A6_ENST00000358747.6_Nonsense_Mutation_p.C41*|SLC26A6_ENST00000383733.3_Nonsense_Mutation_p.C62*	NM_001281732.1	NP_001268661.1			solute carrier family 26 (anion exchanger), member 6	NA									SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GAGCACGGGAGCACCTAGGGA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(13;369 479 28271 30152 44026)							NA				0													42	50	48			NA	NA	3		NA											NA				48670820		1997	4141	6138	SO:0001587	stop_gained			AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697	65010	65010		Solute carriers	14472	protein-coding gene	gene with protein product	pendrin-like protein 1, pendrin L1, sulfate anion transporter, anion transporter 1	610068	solute carrier family 26, member 6		NA	11087667, 11247665	Standard	NM_022911	NM_022911	NA	Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000455886.2:c.186C>A	3.37:g.48670820G>T	ENSP00000401066:p.Cys62*	NA		37		.	.	.	.	.	.	.	.	.	.	G	22.6	4.312981	0.81358	.	.	ENSG00000225697	ENST00000420764;ENST00000395550;ENST00000383733;ENST00000337000;ENST00000447978;ENST00000358747;ENST00000455886;ENST00000431739;ENST00000426599	.	.	.	4.89	0.825	0.18824	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2132	0.37331	0.4019:0.0:0.5981:0.0	.	.	.	.	X	62;62;62;62;62;41;62;62;62	.	ENSP00000307089:C62X	C	-	3	2	SLC26A6	48645824	0.938000	0.31826	0.995000	0.50966	0.226000	0.24999	0.050000	0.14120	0.278000	0.22164	-0.258000	0.10820	TGC	SLC26A6-009	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000345045.1		-	ENST00000455886.2	Nonsense_Mutation	SNP	3 : 48670820 - 48670820 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	316	66
TERT	7015	broad.mit.edu	37	5	1282650	1282650	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1282650C>T	ENST00000310581.5	-	3	1720	c.1663G>A	c.(1663-1665)Gag>Aag	p.E555K	TERT_ENST00000296820.5_Missense_Mutation_p.E555K|TERT_ENST00000508104.2_Missense_Mutation_p.E555K|TERT_ENST00000334602.6_Missense_Mutation_p.E555K	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	555					anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	p.E555Q(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTGAGCAGCTCGACGACGTAC	0.527		NA							TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	kidney(2)											132	121	125			NA	NA	5		NA											NA				1282650		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362	NA	7015			11730	protein-coding gene	gene with protein product		187270			NA	9252327	Standard		NM_198253	NA	Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.1663G>A	5.37:g.1282650C>T	ENSP00000309572:p.Glu555Lys	NA	O14783|Q2XS35|Q8N6C3|Q8NG46	37	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	C	10.41	1.342421	0.24339	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95	4.64	3.74	0.42951	Telomerase ribonucleoprotein complex - RNA-binding domain (2);	0.366373	0.30593	N	0.009285	T	0.82167	0.4978	L	0.55834	1.745	0.30140	N	0.804002	P;P;P	0.51351	0.931;0.923;0.944	B;B;P	0.46208	0.374;0.379;0.507	T	0.76405	-0.2971	10	0.11794	T	0.64	-0.2338	13.0319	0.58847	0.0:0.6773:0.3227:0.0	.	555;555;555	O14746-3;O14746;Q8NG38	.;TERT_HUMAN;.	K	555	ENSP00000309572:E555K;ENSP00000296820:E555K;ENSP00000334346:E555K;ENSP00000426042:E555K	ENSP00000296820:E555K	E	-	1	0	TERT	1335650	0.268000	0.24133	0.139000	0.22197	0.043000	0.13939	0.808000	0.27154	0.889000	0.36185	0.462000	0.41574	GAG	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206729.2		-	ENST00000310581.5	Missense_Mutation	SNP	5 : 1282650 - 1282650 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	473	72
EPB42	2038	broad.mit.edu	37	15	43503705	43503705	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43503705G>A	ENST00000300215.3	-	4	1005	c.548C>T	c.(547-549)gCt>gTt	p.A183V	EPB42_ENST00000441366.2_Missense_Mutation_p.A153V|EPB42_ENST00000540029.1_Missense_Mutation_p.A75V			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	153					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		CATGCGCTGAGCCTCATTCTT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	125	137			NA	NA	15		NA											NA				43503705		2203	4299	6502	SO:0001583	missense			M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947	2038	2038		Transglutaminases	3381	protein-coding gene	gene with protein product	Erythrocyte surface protein band 4.2	177070			NA	1284644	Standard	NM_000119	NM_000119	NA	Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000300215.3:c.548C>T	15.37:g.43503705G>A	ENSP00000300215:p.Ala183Val	NA	Q4VB97	37	CCDS10093.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810516	0.50421	.	.	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366;ENST00000397027	D;D;D	0.87256	-1.82;-2.23;-1.82	5.84	4.91	0.64330	.	0.164522	0.53938	N	0.000053	D	0.83871	0.5348	M	0.64080	1.96	0.30097	N	0.807804	B;P;P	0.45986	0.023;0.87;0.476	B;B;B	0.42138	0.054;0.377;0.209	T	0.80329	-0.1428	10	0.30078	T	0.28	-4.773	8.7641	0.34692	0.0803:0.1502:0.7694:0.0	.	75;183;153	F5H563;P16452-2;P16452	.;.;EPB42_HUMAN	V	183;75;153;153	ENSP00000300215:A183V;ENSP00000444699:A75V;ENSP00000396616:A153V	ENSP00000300215:A183V	A	-	2	0	EPB42	41290997	1.000000	0.71417	0.998000	0.56505	0.552000	0.35366	1.926000	0.40084	1.460000	0.47911	0.655000	0.94253	GCT	EPB42-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253201.1		-	ENST00000300215.3	Missense_Mutation	SNP	15 : 43503705 - 43503705 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	408	16
CSMD3	114788	broad.mit.edu	37	8	113358415	113358415	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113358415A>C	ENST00000297405.5	-	41	6597	c.6353T>G	c.(6352-6354)tTc>tGc	p.F2118C	CSMD3_ENST00000352409.3_Missense_Mutation_p.F2048C|CSMD3_ENST00000455883.2_Missense_Mutation_p.F2014C|CSMD3_ENST00000343508.3_Missense_Mutation_p.F2078C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2118	CUB 12.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CACACCACTGAAGTCTGACAT	0.373		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	107	107			NA	NA	8		NA											NA				113358415		2203	4300	6503	SO:0001583	missense			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796	114788	114788			19291	protein-coding gene	gene with protein product		608399			NA		Standard	NM_052900	NM_052900	NA	Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6353T>G	8.37:g.113358415A>C	ENSP00000297405:p.Phe2118Cys	NA	Q96PZ3	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.235999	0.79800	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26	5.44	5.44	0.79542	CUB (5);	0.071493	0.56097	D	0.000031	T	0.29620	0.0739	L	0.34521	1.04	0.53005	D	0.999968	D;D;D	0.71674	0.998;0.973;0.994	D;P;D	0.66497	0.944;0.852;0.916	T	0.01259	-1.1403	10	0.39692	T	0.17	.	15.6637	0.77209	1.0:0.0:0.0:0.0	.	2014;2118;2078	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	2078;2118;1388;2014;2048	ENSP00000345799:F2078C;ENSP00000297405:F2118C;ENSP00000341558:F1388C;ENSP00000412263:F2014C;ENSP00000343124:F2048C	ENSP00000297405:F2118C	F	-	2	0	CSMD3	113427591	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.097000	0.94193	2.285000	0.76669	0.528000	0.53228	TTC	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347141.1		-	ENST00000297405.5	Missense_Mutation	SNP	8 : 113358415 - 113358415 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	374	15
UTS2R	2837	broad.mit.edu	37	17	80332627	80332627	+	Missense_Mutation	SNP	G	G	A	rs114260139	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80332627G>A	ENST00000313135.2	+	1	475	c.427G>A	c.(427-429)Gtc>Atc	p.V143I		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	143						integral to membrane|plasma membrane				breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			CACGCTGACCGTCATGAGCAG	0.677		NA											G	1	5e-04	0.002	NA	2184	NA	0.9996	,	,	NA	3e-04	NA	NA	NA	6e-04	0.6896	EXOME	NA	NA	6e-04	SNP								NA				0								G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	38	31	33		427	1.6	0.4	17	dbSNP_132	33	0,8598		0,0,4299	no	missense	UTS2R	NM_018949.1	29	0,1,6501	AA,AG,GG	NA	0.0,0.0227,0.0077	benign	143/390	80332627	1,13003	2203	4299	6502	SO:0001583	missense			AF140631	CCDS11810.1	17q25.3	2013-04-30	2004-07-13	2004-07-13		ENSG00000181408	2837	2837			4468	protein-coding gene	gene with protein product		600896	G protein-coupled receptor 14	GPR14	NA	8666380, 10499587	Standard	NM_018949	NM_018949	NA	Approved		uc010wvl.2	Q9UKP6		ENST00000313135.2:c.427G>A	17.37:g.80332627G>A	ENSP00000323516:p.Val143Ile	NA	B2RMV8	37	CCDS11810.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.07	1.826543	0.32329	2.27E-4	0.0	ENSG00000181408	ENST00000313135	T	0.39997	1.05	4.88	1.65	0.23941	GPCR, rhodopsin-like superfamily (1);	0.411084	0.25117	N	0.033019	T	0.30039	0.0752	L	0.41573	1.285	0.31819	N	0.626224	B	0.21520	0.057	B	0.20767	0.031	T	0.24977	-1.0145	10	0.27785	T	0.31	.	8.8159	0.34996	0.0819:0.3003:0.6178:0.0	.	143	Q9UKP6	UR2R_HUMAN	I	143	ENSP00000323516:V143I	ENSP00000323516:V143I	V	+	1	0	UTS2R	77925916	0.479000	0.25925	0.444000	0.26895	0.983000	0.72400	0.913000	0.28611	0.158000	0.19367	0.551000	0.68910	GTC	UTS2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443506.1		+	ENST00000313135.2	Missense_Mutation	SNP	17 : 80332627 - 80332627 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	176	45
KCNV2	169522	broad.mit.edu	37	9	2718157	2718157	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2718157G>A	ENST00000382082.3	+	1	656	c.418G>A	c.(418-420)Gac>Aac	p.D140N		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	140						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		AAGCCTGTGCGACGACTACGA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	18	18			NA	NA	9		NA											NA				2718157		2200	4294	6494	SO:0001583	missense			AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263	169522	169522		Potassium channels, Voltage-gated ion channels / Potassium channels	19698	protein-coding gene	gene with protein product		607604			NA	12060745, 16382104	Standard	NM_133497	NM_133497	NA	Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.418G>A	9.37:g.2718157G>A	ENSP00000371514:p.Asp140Asn	NA	Q5T6X0	37	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875721	0.91664	.	.	ENSG00000168263	ENST00000423608;ENST00000382082	T	0.77620	-1.11	5.07	5.07	0.68467	BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.91901	0.7436	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94262	0.7503	10	0.72032	D	0.01	.	18.4533	0.90711	0.0:0.0:1.0:0.0	.	140	Q8TDN2	KCNV2_HUMAN	N	140	ENSP00000371514:D140N	ENSP00000371514:D140N	D	+	1	0	KCNV2	2708157	1.000000	0.71417	0.956000	0.39512	0.893000	0.52053	9.855000	0.99526	2.352000	0.79861	0.462000	0.41574	GAC	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051528.1		+	ENST00000382082.3	Missense_Mutation	SNP	9 : 2718157 - 2718157 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	108	20
MOB4	25843	broad.mit.edu	37	2	198405148	198405148	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198405148A>C	ENST00000323303.4	+	5	596	c.341A>C	c.(340-342)aAa>aCa	p.K114T	MOB4_ENST00000409916.1_Missense_Mutation_p.K15T|MOB4_ENST00000409360.1_Missense_Mutation_p.K82T|MOB4_ENST00000448447.2_Missense_Mutation_p.K93T|HSPE1-MOB4_ENST00000604458.1_Missense_Mutation_p.K150T|MOB4_ENST00000497443.1_3'UTR|MOB4_ENST00000233892.4_Missense_Mutation_p.K82T	NM_001202485.1|NM_015387.4	NP_001189414.1|NP_056202.2			MOB family member 4, phocein	NA											NA						GCAGCTCATAAAACTCCAAAA	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	32	32			NA	NA	2		NA											NA				198405148		2201	4290	6491	SO:0001583	missense			AF151853	CCDS2321.1, CCDS2322.1, CCDS46480.1	2q33.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000115540	ENSG00000115540	25843	25843		MOB kinase activators	17261	protein-coding gene	gene with protein product	phocein, phocein, Mob-like protein	609361	preimplantation protein 3, MOB1, Mps One Binder kinase activator-like 3 (yeast)	PREI3, MOBKL3	NA	17853115, 10810093, 11230166, 11319234	Standard	NM_015387	NM_199482	NA	Approved	MOB3, DKFZP564M112, CGI-95, 2C4D, PHOCN		Q9Y3A3	OTTHUMG00000132748	ENST00000323303.4:c.341A>C	2.37:g.198405148A>C	ENSP00000315702:p.Lys114Thr	NA		37	CCDS2321.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.303749	0.81136	.	.	ENSG00000115540	ENST00000233892;ENST00000409916;ENST00000323303;ENST00000448447;ENST00000409360	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.83482	0.5264	M	0.85710	2.77	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.991;0.995	D	0.86432	0.1761	9	0.87932	D	0	.	15.8317	0.78757	1.0:0.0:0.0:0.0	.	93;114	Q9Y3A3-3;Q9Y3A3	.;PHOCN_HUMAN	T	82;15;114;93;82	.	ENSP00000233892:K82T	K	+	2	0	PHOCN	198113393	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	9.248000	0.95456	2.136000	0.66102	0.533000	0.62120	AAA	MOB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256110.4		+	ENST00000323303.4	Missense_Mutation	SNP	2 : 198405148 - 198405148 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	390	78
RFC2	5982	broad.mit.edu	37	7	73664070	73664070	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73664070G>A	ENST00000055077.3	-	3	284	c.224C>T	c.(223-225)gCg>gTg	p.A75V	RFC2_ENST00000352131.3_Splice_Site_p.A75V	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	75					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						GGTACTCACCGCAATGATGAT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													185	150	162			NA	NA	7		NA											NA				73664070		2203	4300	6503	SO:0001630	splice_region_variant				CCDS5567.1, CCDS5568.1, CCDS75618.1	7q11.23	2010-04-21	2002-08-29		ENSG00000049541	ENSG00000049541	5982	5982		ATPases / AAA-type	9970	protein-coding gene	gene with protein product	activator 1	600404	replication factor C (activator 1) 2 (40kD)		NA	1313560, 7774928	Standard	NM_181471	NM_181471	NA	Approved	A1, RFC40	uc003uaj.3	P35250	OTTHUMG00000023239	ENST00000055077.3:c.225+1C>T	7.37:g.73664070G>A		NA	B5BU07|D3DXG3|P32846|Q9BU93	37	CCDS5568.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411092	0.83340	.	.	ENSG00000049541	ENST00000352131;ENST00000055077	T;D	0.92495	1.07;-3.05	4.63	4.63	0.57726	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.048801	0.85682	D	0.000000	D	0.85729	0.5764	N	0.04686	-0.185	0.80722	D	1	P;P;P	0.47191	0.593;0.646;0.891	B;P;P	0.45971	0.366;0.499;0.499	D	0.87888	0.2682	10	0.44086	T	0.13	.	16.4223	0.83771	0.0:0.0:1.0:0.0	.	75;75;75	P35250-2;Q75MT5;P35250	.;.;RFC2_HUMAN	V	75	ENSP00000275627:A75V;ENSP00000055077:A75V	ENSP00000055077:A75V	A	-	2	0	RFC2	73302006	1.000000	0.71417	0.921000	0.36526	0.423000	0.31445	9.318000	0.96334	2.309000	0.77851	0.442000	0.29010	GCG	RFC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252459.2	Missense_Mutation	-	ENST00000055077.3	Splice_Site	SNP	7 : 73664070 - 73664070 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	520	23
HIP1	3092	broad.mit.edu	37	7	75221405	75221405	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75221405C>A	ENST00000434438.2	-	4	373	c.353G>T	c.(352-354)aGa>aTa	p.R118I	HIP1_ENST00000336926.6_Missense_Mutation_p.R118I	NM_001243198.1	NP_001230127.1	O00291	HIP1_HUMAN	huntingtin interacting protein 1	118	ENTH.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CAATTCATTTCTGTATCTCAG	0.502		NA	T	PDGFRB	CMML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	0													164	144	151			NA	NA	7		NA											NA				75221405		2203	4300	6503	SO:0001583	missense			AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946	3092	3092			4913	protein-coding gene	gene with protein product		601767			NA	9140394, 9147654	Standard	NM_005338	NM_005338	NA	Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000434438.2:c.353G>T	7.37:g.75221405C>A	ENSP00000410300:p.Arg118Ile	NA	O00328|Q2TB58|Q8TDL4	37	CCDS59060.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576197	0.86645	.	.	ENSG00000127946	ENST00000336926;ENST00000434438;ENST00000420909	T;T;T	0.32988	1.43;1.43;1.43	6.01	4.89	0.63831	ENTH/VHS (2);ANTH (1);Epsin-like, N-terminal (2);	0.040310	0.85682	D	0.000000	T	0.25044	0.0608	L	0.39898	1.24	0.54753	D	0.999987	B	0.16166	0.016	B	0.25759	0.063	T	0.05435	-1.0885	10	0.25751	T	0.34	-20.8002	9.3504	0.38133	0.0:0.0869:0.0:0.9131	.	118	O00291	HIP1_HUMAN	I	118;118;89	ENSP00000336747:R118I;ENSP00000410300:R118I;ENSP00000414280:R89I	ENSP00000336747:R118I	R	-	2	0	HIP1	75059341	1.000000	0.71417	0.983000	0.44433	0.988000	0.76386	4.605000	0.61119	1.140000	0.42260	0.650000	0.86243	AGA	HIP1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342864.2		-	ENST00000434438.2	Missense_Mutation	SNP	7 : 75221405 - 75221405 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	593	105
RPTOR	57521	broad.mit.edu	37	17	78923309	78923309	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78923309C>T	ENST00000306801.3	+	28	3694	c.3332C>T	c.(3331-3333)gCg>gTg	p.A1111V	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.A953V	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1111					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						ATGGTGACCGCGTGGCAGGGG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	167	170			NA	NA	17		NA											NA				78923309		2203	4300	6503	SO:0001583	missense				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564	57521	57521		WD repeat domain containing	30287	protein-coding gene	gene with protein product	regulatory associated protein of mTOR	607130			NA	10718198, 12150926	Standard	NM_020761	NM_001163034	NA	Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.3332C>T	17.37:g.78923309C>T	ENSP00000307272:p.Ala1111Val	NA	B2RN36|Q8N4V9|Q8TB32|Q9P2P3	37	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	C	32	5.157797	0.94686	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.26660	1.72;1.72	4.66	4.66	0.58398	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.56746	0.2006	M	0.87758	2.905	0.80722	D	1	D;D	0.76494	0.999;0.992	D;P	0.71184	0.972;0.46	T	0.65751	-0.6092	10	0.56958	D	0.05	.	17.552	0.87879	0.0:1.0:0.0:0.0	.	953;1111	F5H7J5;Q8N122	.;RPTOR_HUMAN	V	1111;953	ENSP00000307272:A1111V;ENSP00000442479:A953V	ENSP00000307272:A1111V	A	+	2	0	RPTOR	76537904	1.000000	0.71417	0.057000	0.19452	0.959000	0.62525	7.353000	0.79414	2.145000	0.66743	0.462000	0.41574	GCG	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438125.1		+	ENST00000306801.3	Missense_Mutation	SNP	17 : 78923309 - 78923309 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1277	224
PRKD2	25865	broad.mit.edu	37	19	47207843	47207843	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47207843C>T	ENST00000291281.4	-	4	800	c.575G>A	c.(574-576)cGc>cAc	p.R192H	PRKD2_ENST00000600194.1_Missense_Mutation_p.R35H|PRKD2_ENST00000601806.1_Missense_Mutation_p.R35H|PRKD2_ENST00000595515.1_Missense_Mutation_p.R192H|PRKD2_ENST00000433867.1_Missense_Mutation_p.R192H			Q9BZL6	KPCD2_HUMAN	protein kinase D2	192					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GCGCCGTTTGCGGGCCCCACT	0.647		NA									OREG0025578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	44	43			NA	NA	19		NA											NA				47207843		2203	4300	6503	SO:0001583	missense			AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287	25865	25865		Pleckstrin homology (PH) domain containing	17293	protein-coding gene	gene with protein product		607074			NA	11042152, 11062248	Standard	NM_016457	NM_001079880	NA	Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.575G>A	19.37:g.47207843C>T	ENSP00000291281:p.Arg192His	945	Q8TB08|Q9P0T6|Q9Y3X8	37	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	C	35	5.586441	0.96578	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.68331	-0.32;-0.32	5.4	5.4	0.78164	.	0.169690	0.38217	U	0.001763	T	0.76688	0.4022	M	0.61703	1.905	0.58432	D	0.999999	D;D	0.58620	0.983;0.983	P;P	0.56127	0.792;0.714	T	0.79140	-0.1926	10	0.72032	D	0.01	-40.6081	17.9478	0.89044	0.0:1.0:0.0:0.0	.	192;192	E7ER94;Q9BZL6	.;KPCD2_HUMAN	H	192	ENSP00000291281:R192H;ENSP00000393978:R192H	ENSP00000291281:R192H	R	-	2	0	PRKD2	51899683	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.453000	0.80700	2.535000	0.85469	0.313000	0.20887	CGC	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466591.1		-	ENST00000291281.4	Missense_Mutation	SNP	19 : 47207843 - 47207843 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	350	52
GPRC5C	55890	broad.mit.edu	37	17	72439974	72439974	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72439974C>A	ENST00000481232.1	+	3	934	c.423C>A	c.(421-423)caC>caA	p.H141Q	GPRC5C_ENST00000582873.1_3'UTR|GPRC5C_ENST00000392627.1_Missense_Mutation_p.P402T|GPRC5C_ENST00000342648.5_Missense_Mutation_p.P42T|GPRC5C_ENST00000392629.2_Missense_Mutation_p.P369T			Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	0						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						GCCGGTGTCACCATACAGCGG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	107	113			NA	NA	17		NA											NA				72439974		2203	4300	6503	SO:0001583	missense			AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412	NA	55890		GPCR / Class C : Orphans	13309	protein-coding gene	gene with protein product		605949	G protein-coupled receptor, family C, group 5, member C		NA	10945465	Standard		NM_022036	NA	Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000481232.1:c.423C>A	17.37:g.72439974C>A	ENSP00000462147:p.His141Gln	NA	B5BUN4|Q2NL85|Q9NZG5	37		.	.	.	.	.	.	.	.	.	.	C	10.99	1.508381	0.27036	.	.	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000262616;ENST00000392629;ENST00000392628	T	0.18810	2.19	5.3	5.3	0.74995	.	0.298370	0.36519	N	0.002557	T	0.43233	0.1238	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.97110	1.0;0.981;0.981;0.992	T	0.28004	-1.0057	10	0.72032	D	0.01	-21.0327	16.4521	0.83994	0.0:1.0:0.0:0.0	.	68;357;357;369	Q9NXI0;A8MXZ4;Q9NQ84;Q9NQ84-2	.;.;GPC5C_HUMAN;.	T	357;402;68;369;357	ENSP00000376405:P369T	ENSP00000262616:P68T	P	+	1	0	GPRC5C	69951569	1.000000	0.71417	0.676000	0.29932	0.318000	0.28184	5.328000	0.65887	2.483000	0.83821	0.643000	0.83706	CCA	GPRC5C-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000145095.2		+	ENST00000481232.1	Missense_Mutation	SNP	17 : 72439974 - 72439974 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	427	81
TNKS1BP1	85456	broad.mit.edu	37	11	57076904	57076904	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57076904A>G	ENST00000532437.1	-	5	3592	c.3281T>C	c.(3280-3282)gTt>gCt	p.V1094A	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.V1094A			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1094	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTGGGGGCCAACACTGAGGCT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	67	71			NA	NA	11		NA											NA				57076904		2201	4296	6497	SO:0001583	missense			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115	85456	85456			19081	protein-coding gene	gene with protein product		607104			NA	11854288	Standard	NM_033396	NM_033396	NA	Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.3281T>C	11.37:g.57076904A>G	ENSP00000437271:p.Val1094Ala	NA	A7E2F8|Q6PJ35|Q6ZV74	37	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	A	9.350	1.065205	0.20067	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.32753	1.44;1.44	4.85	2.33	0.28932	.	0.498700	0.16510	N	0.211295	T	0.22936	0.0554	N	0.21142	0.635	0.09310	N	1	D	0.56287	0.975	P	0.53062	0.717	T	0.08310	-1.0728	10	0.10111	T	0.7	-3.9478	4.1775	0.10358	0.5689:0.1727:0.0:0.2584	.	1094	Q9C0C2	TB182_HUMAN	A	1094	ENSP00000350990:V1094A;ENSP00000437271:V1094A	ENSP00000350990:V1094A	V	-	2	0	TNKS1BP1	56833480	0.000000	0.05858	0.001000	0.08648	0.063000	0.16089	-0.067000	0.11579	0.691000	0.31592	0.379000	0.24179	GTT	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392455.1		-	ENST00000532437.1	Missense_Mutation	SNP	11 : 57076904 - 57076904 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	407	90
FAM78B	149297	broad.mit.edu	37	1	166039799	166039799	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166039799G>A	ENST00000338353.3	-	3	1054	c.465C>T	c.(463-465)agC>agT	p.S155S	FAM78B_ENST00000354422.3_Silent_p.S155S			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	155										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					GTGGCACATTGCTGTCACTCA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													226	197	206			NA	NA	1		NA											NA				166039799		2203	4300	6503	SO:0001819	synonymous_variant			AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859	149297	149297			13495	protein-coding gene	gene with protein product					NA		Standard	NM_001017961	NM_001017961	NA	Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.465C>T	1.37:g.166039799G>A		NA	B7Z693	37	CCDS30931.1																																																																																			FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343108.1		-	ENST00000338353.3	Silent	SNP	1 : 166039799 - 166039799 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1003	195
UBN2	254048	broad.mit.edu	37	7	138936723	138936723	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138936723C>T	ENST00000473989.3	+	3	583	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	UBN2_ENST00000288561.8_Missense_Mutation_p.R112W	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	NA										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CCGTAAACACCGGAAGGATCG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	107	107			NA	NA	7		NA											NA				138936723		1828	4088	5916	SO:0001583	missense			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741	254048	254048			21931	protein-coding gene	gene with protein product		613841			NA	19029251	Standard	NM_173569	NM_173569	NA	Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.583C>T	7.37:g.138936723C>T	ENSP00000418648:p.Arg195Trp	NA	A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	37	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096847	0.76870	.	.	ENSG00000157741	ENST00000486663;ENST00000473989;ENST00000288561	T;T	0.39229	1.11;1.09	5.14	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.61451	0.2348	M	0.68317	2.08	0.49687	D	0.999814	D	0.89917	1.0	D	0.77557	0.99	T	0.65861	-0.6065	10	0.87932	D	0	-9.6286	13.501	0.61454	0.2833:0.7167:0.0:0.0	.	195	Q6ZU65	UBN2_HUMAN	W	18;195;112	ENSP00000418648:R195W;ENSP00000288561:R112W	ENSP00000288561:R112W	R	+	1	2	UBN2	138587263	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.599000	0.46231	1.344000	0.45657	0.655000	0.94253	CGG	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349272.3		+	ENST00000473989.3	Missense_Mutation	SNP	7 : 138936723 - 138936723 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	494	75
GALNT5	11227	broad.mit.edu	37	2	158115418	158115418	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:158115418G>A	ENST00000259056.4	+	1	1309	c.824G>A	c.(823-825)aGt>aAt	p.S275N		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	275				NTS -> AEG (in Ref. 2).	glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GCCAATACGAGTCTTCCTTTT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	74	74			NA	NA	2		NA											NA				158115418		2203	4300	6503	SO:0001583	missense			AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	11227	11227	2.4.1.41	Glycosyltransferase family 2 domain containing	4127	protein-coding gene	gene with protein product	polypeptide GalNAc transferase 5	615129	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)		NA	10545594	Standard	NM_014568	NM_014568	NA	Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.824G>A	2.37:g.158115418G>A	ENSP00000259056:p.Ser275Asn	NA	Q9UGK7|Q9UHL6	37	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.666637	0.00765	.	.	ENSG00000136542	ENST00000259056	T	0.55413	0.52	5.66	-3.12	0.05282	.	9.801460	0.00166	N	0.000000	T	0.27027	0.0662	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17776	-1.0358	10	0.10111	T	0.7	.	6.1131	0.20112	0.529:0.2649:0.2061:0.0	.	275	Q7Z7M9	GALT5_HUMAN	N	275	ENSP00000259056:S275N	ENSP00000259056:S275N	S	+	2	0	GALNT5	157823664	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.862000	0.04263	-0.403000	0.07622	0.655000	0.94253	AGT	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254925.2		+	ENST00000259056.4	Missense_Mutation	SNP	2 : 158115418 - 158115418 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	555	41
LRP1B	53353	broad.mit.edu	37	2	141806690	141806690	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141806690T>C	ENST00000389484.3	-	11	2625	c.1654A>G	c.(1654-1656)Ata>Gta	p.I552V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	552					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGATTTTCTATGGGGATCATG	0.423		NA								TSP Lung(27;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(99;50 2074 2507 20106)							NA				0													187	182	184			NA	NA	2		NA											NA				141806690		2203	4300	6503	SO:0001583	missense			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702	53353	53353		Low density lipoprotein receptors	6693	protein-coding gene	gene with protein product	LRP-deleted in tumors	608766			NA	10766186	Standard	NM_018557	NM_018557	NA	Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1654A>G	2.37:g.141806690T>C	ENSP00000374135:p.Ile552Val	NA	Q8WY29|Q8WY30|Q8WY31	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	10.89	1.477058	0.26511	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91124	-2.79	5.49	5.49	0.81192	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	U	0.000000	D	0.93158	0.7821	L	0.55481	1.735	0.50632	D	0.999882	D	0.59357	0.985	D	0.67548	0.952	D	0.91523	0.5236	10	0.24483	T	0.36	.	15.592	0.76537	0.0:0.0:0.0:1.0	.	552	Q9NZR2	LRP1B_HUMAN	V	552;490	ENSP00000374135:I552V	ENSP00000374135:I552V	I	-	1	0	LRP1B	141523160	1.000000	0.71417	1.000000	0.80357	0.359000	0.29487	7.929000	0.87595	2.074000	0.62210	0.460000	0.39030	ATA	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254736.2		-	ENST00000389484.3	Missense_Mutation	SNP	2 : 141806690 - 141806690 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1039	84
CDAN1	146059	broad.mit.edu	37	15	43027557	43027557	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43027557T>C	ENST00000356231.3	-	5	982	c.959A>G	c.(958-960)aAc>aGc	p.N320S		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	320						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CAAGAAGAGGTTTGGTACCAG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	38	36			NA	NA	15		NA											NA				43027557		2203	4299	6502	SO:0001583	missense			AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326	146059	146059			1713	protein-coding gene	gene with protein product		607465	congenital dyserythropoietic anemia, type I		NA	8634422, 12434312	Standard	XM_085300	XM_005254177	NA	Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.959A>G	15.37:g.43027557T>C	ENSP00000348564:p.Asn320Ser	NA	Q6NYD0|Q7Z7L5|Q969N3	37	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	T	14.40	2.525466	0.44969	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.89552	-2.53	6.04	4.92	0.64577	.	0.180260	0.64402	D	0.000014	T	0.80297	0.4597	L	0.31207	0.915	0.42507	D	0.992951	B	0.19583	0.037	B	0.18561	0.022	T	0.74551	-0.3628	10	0.33940	T	0.23	-18.465	6.6711	0.23068	0.0:0.1664:0.0:0.8336	.	320	Q8IWY9	CDAN1_HUMAN	S	320;318	ENSP00000348564:N320S	ENSP00000267892:N318S	N	-	2	0	CDAN1	40814849	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.021000	0.41020	2.317000	0.78254	0.459000	0.35465	AAC	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000431103.1		-	ENST00000356231.3	Missense_Mutation	SNP	15 : 43027557 - 43027557 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	76	7
FCRL5	83416	broad.mit.edu	37	1	157504525	157504525	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157504525G>T	ENST00000361835.3	-	8	1717	c.1560C>A	c.(1558-1560)ccC>ccA	p.P520P	FCRL5_ENST00000368190.3_Silent_p.P520P|FCRL5_ENST00000368189.3_Silent_p.P520P|FCRL5_ENST00000368191.3_Silent_p.P435P|FCRL5_ENST00000356953.4_Silent_p.P520P	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	520	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TTCCCACAGAGGGTGTTGAGC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	60	60			NA	NA	1		NA											NA				157504525		2203	4300	6503	SO:0001819	synonymous_variant			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297	83416	83416		CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	18508	protein-coding gene	gene with protein product		605877			NA	11027651, 11290337	Standard	NM_031281	NM_031281	NA	Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1560C>A	1.37:g.157504525G>T		NA	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	37	CCDS1165.1																																																																																			FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046263.1		-	ENST00000361835.3	Silent	SNP	1 : 157504525 - 157504525 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	259	40
TUBA4A	7277	broad.mit.edu	37	2	220115518	220115518	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220115518C>T	ENST00000392088.2	-	4	1413	c.858G>A	c.(856-858)caG>caA	p.Q286Q	TUBA4A_ENST00000248437.4_Silent_p.Q301Q|TUBA4A_ENST00000498660.1_5'UTR	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	301					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTTTACCATCTGGTTGGCAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	104	107			NA	NA	2		NA											NA				220115518		2203	4300	6503	SO:0001819	synonymous_variant			AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824	7277	7277		Tubulins	12407	protein-coding gene	gene with protein product		191110	tubulin, alpha 1 (testis specific), tubulin, alpha 1	TUBA1	NA	3785200	Standard	NM_006000	NM_006000	NA	Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000392088.2:c.858G>A	2.37:g.220115518C>T		NA	B3KNQ6|P05215	37																																																																																				TUBA4A-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000259055.3		-	ENST00000392088.2	Silent	SNP	2 : 220115518 - 220115518 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	581	212
CLIP3	25999	broad.mit.edu	37	19	36517067	36517067	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36517067G>A	ENST00000360535.4	-	6	890	c.663C>T	c.(661-663)ggC>ggT	p.G221G	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Silent_p.G221G	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	221					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	p.G221G(1)		cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CAGGGTTGGCGCCGTGCTCCA	0.637		NA												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)											46	43	44			NA	NA	19		NA											NA				36517067		2203	4300	6503	SO:0001819	synonymous_variant			AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270	25999	25999		Ankyrin repeat domain containing	24314	protein-coding gene	gene with protein product	CLIP-170-related, restin-like 1	607382			NA	11854307	Standard	NM_015526	NM_015526	NA	Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.663C>T	19.37:g.36517067G>A		NA	A8K0E4|Q8WWL1|Q96C99|Q9UFT7	37	CCDS12486.1																																																																																			CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457426.1		-	ENST00000360535.4	Silent	SNP	19 : 36517067 - 36517067 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	303	74
COL4A4	1286	broad.mit.edu	37	2	227945157	227945157	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:227945157A>G	ENST00000396625.3	-	24	2011		c.e24+1		COL4A4_ENST00000329662.7_Splice_Site	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	NA					axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AATTCTACATACTGGAGGTCC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	109	108			NA	NA	2		NA											NA				227945157		1856	4105	5961	SO:0001630	splice_region_variant				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052	1286	1286		Collagens	2206	protein-coding gene	gene with protein product	collagen of basement membrane, alpha-4 chain	120131			NA	1639407	Standard	NM_000092	NM_000092	NA	Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1803+1T>C	2.37:g.227945157A>G		NA	A8MTZ1|Q53RW9|Q53S42|Q53WR1	37	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	A	10.04	1.242599	0.22796	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8654	0.35282	0.9169:0.0:0.0831:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL4A4	227653401	1.000000	0.71417	0.960000	0.40013	0.030000	0.12068	5.234000	0.65343	2.269000	0.75478	0.533000	0.62120	.	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313770.1	Intron	-	ENST00000396625.3	Splice_Site	SNP	2 : 227945157 - 227945157 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	709	110
ADH5	128	broad.mit.edu	37	4	99997895	99997895	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:99997895C>T	ENST00000296412.8	-	5	574	c.524G>A	c.(523-525)gGc>gAc	p.G175D	ADH5_ENST00000512991.1_5'UTR	NM_000671.3	NP_000662.3	P11766	ADHX_HUMAN	alcohol dehydrogenase 5 (class III), chi polypeptide	175					ethanol oxidation|response to redox state		alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	NADH(DB00157)	GGTTGAAATGCCACAACCTAG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	67	69			NA	NA	4		NA											NA				99997895		1896	4126	6022	SO:0001583	missense			M29872	CCDS47111.1	4q23	2012-07-13	2003-06-19		ENSG00000197894	ENSG00000197894	128	128	1.1.1.284	Alcohol dehydrogenases	253	protein-coding gene	gene with protein product		103710	formaldehyde dehydrogenase	FDH	NA	1446828, 6424546	Standard	NM_000671	NM_000671	NA	Approved	ADH-3, ADHX	uc003hui.3	P11766	OTTHUMG00000161230	ENST00000296412.8:c.524G>A	4.37:g.99997895C>T	ENSP00000296412:p.Gly175Asp	NA	Q6FHR2	37	CCDS47111.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617379	0.87359	.	.	ENSG00000197894	ENST00000296412;ENST00000503130	T;T	0.23348	1.91;1.91	5.1	4.26	0.50523	GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.71056	0.3295	H	0.99815	4.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.85057	0.0932	9	.	.	.	-18.4869	14.0279	0.64597	0.0:0.9276:0.0:0.0724	.	175;175;175	Q5U043;Q6IRT1;P11766	.;.;ADHX_HUMAN	D	175;162	ENSP00000296412:G175D;ENSP00000427049:G162D	.	G	-	2	0	ADH5	100216918	0.995000	0.38212	0.991000	0.47740	0.997000	0.91878	3.157000	0.50716	1.535000	0.49220	0.650000	0.86243	GGC	ADH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364224.1		-	ENST00000296412.8	Missense_Mutation	SNP	4 : 99997895 - 99997895 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	181	30
C1orf173	0	broad.mit.edu	37	1	75038471	75038471	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75038471G>A	ENST00000326665.5	-	14	3141	c.2923C>T	c.(2923-2925)Ctt>Ttt	p.L975F	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN		975	Glu-rich.							p.L975I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCTCCCCCAAGAATTGCCTCT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											128	118	121			NA	NA	1		NA											NA				75038471		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000326665.5:c.2923C>T	1.37:g.75038471G>A	ENSP00000322609:p.Leu975Phe	NA	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	g	11.54	1.669012	0.29604	.	.	ENSG00000178965	ENST00000326665	T	0.19394	2.15	4.65	-0.235	0.13071	.	.	.	.	.	T	0.04588	0.0125	L	0.40543	1.245	0.09310	N	1	B	0.21225	0.053	B	0.19391	0.025	T	0.41070	-0.9529	9	0.52906	T	0.07	0.2926	0.2928	0.00261	0.3139:0.229:0.2654:0.1916	.	975	Q5RHP9	CA173_HUMAN	F	975	ENSP00000322609:L975F	ENSP00000322609:L975F	L	-	1	0	C1orf173	74811059	0.000000	0.05858	0.000000	0.03702	0.439000	0.31926	-1.235000	0.02928	0.064000	0.16427	-0.358000	0.07595	CTT	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026516.1		-	ENST00000326665.5	Missense_Mutation	SNP	1 : 75038471 - 75038471 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	559	124
SYNPO	11346	broad.mit.edu	37	5	150027809	150027809	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150027809G>A	ENST00000394243.1	+	3	1078	c.704G>A	c.(703-705)aGc>aAc	p.S235N	SYNPO_ENST00000518872.1_Intron|SYNPO_ENST00000307662.4_5'UTR|SYNPO_ENST00000519664.1_5'UTR|SYNPO_ENST00000522122.1_Missense_Mutation_p.S235N	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	235					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTCCCCAGAGCCCCGACAGA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	30	28			NA	NA	5		NA											NA				150027809		2202	4300	6502	SO:0001583	missense			AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992	11346	11346			30672	protein-coding gene	gene with protein product		608155			NA	9314539, 10470851	Standard	NM_007286	NM_007286	NA	Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.704G>A	5.37:g.150027809G>A	ENSP00000377789:p.Ser235Asn	NA	A5PKZ8|D3DQG8|O15271|Q9UPX1	37	CCDS54937.1	.	.	.	.	.	.	.	.	.	.	G	9.883	1.202039	0.22121	.	.	ENSG00000171992	ENST00000394243;ENST00000522122	T;T	0.23754	1.89;1.89	5.16	2.19	0.27852	.	0.000000	0.48767	D	0.000172	T	0.15392	0.0371	L	0.29908	0.895	0.40926	D	0.984353	B	0.18166	0.026	B	0.19391	0.025	T	0.09640	-1.0665	10	0.17369	T	0.5	-11.3873	7.7797	0.29058	0.1734:0.1482:0.6784:0.0	.	235	Q8N3V7	SYNPO_HUMAN	N	235	ENSP00000377789:S235N;ENSP00000428378:S235N	ENSP00000377789:S235N	S	+	2	0	SYNPO	150008002	0.000000	0.05858	0.979000	0.43373	0.720000	0.41350	-0.198000	0.09505	0.587000	0.29643	0.561000	0.74099	AGC	SYNPO-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252371.1		+	ENST00000394243.1	Missense_Mutation	SNP	5 : 150027809 - 150027809 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	138	29
SCN3A	6328	broad.mit.edu	37	2	166019220	166019220	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166019220G>A	ENST00000283254.7	-	8	1280	c.813C>T	c.(811-813)ggC>ggT	p.G271G	SCN3A_ENST00000409101.3_Silent_p.G271G|SCN3A_ENST00000360093.3_Silent_p.G271G	NM_001081676.1|NM_006922.3	NP_001075145.1|NP_008853.3	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	271						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TCCTCAGATTGCCCATGAACA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	109	111			NA	NA	2		NA											NA				166019220		2203	4300	6503	SO:0001819	synonymous_variant			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253	6328	6328		Sodium channels, Voltage-gated ion channels / Sodium channels	10590	protein-coding gene	gene with protein product		182391	sodium channel, voltage-gated, type III, alpha polypeptide		NA	9589372, 16382098	Standard	NM_006922	NM_001081676	NA	Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000283254.7:c.813C>T	2.37:g.166019220G>A		NA	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	37	CCDS33312.1																																																																																			SCN3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000102655.2		-	ENST00000283254.7	Silent	SNP	2 : 166019220 - 166019220 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	491	127
ZNF32	7580	broad.mit.edu	37	10	44139576	44139576	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44139576G>A	ENST00000395797.1	-	3	932	c.744C>T	c.(742-744)ggC>ggT	p.G248G	ZNF32-AS1_ENST00000453284.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32_ENST00000374433.2_Silent_p.G248G	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		TTCCACACTGGCCGCACAGAT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	62	61			NA	NA	10		NA											NA				44139576		2203	4300	6503	SO:0001819	synonymous_variant			U69645	CCDS7206.1	10q22-q25	2013-01-08	2006-05-11		ENSG00000169740	ENSG00000169740	7580	7580		Zinc fingers, C2H2-type	13095	protein-coding gene	gene with protein product		194539	zinc finger protein 32 (KOX 30)		NA		Standard	NM_006973	XM_005271822	NA	Approved	KOX30	uc001jbc.3	P17041	OTTHUMG00000018043	ENST00000395797.1:c.744C>T	10.37:g.44139576G>A		NA	Q92951	37	CCDS7206.1																																																																																			ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047723.1		-	ENST00000395797.1	Silent	SNP	10 : 44139576 - 44139576 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	228	7
CADM2	253559	broad.mit.edu	37	3	85961642	85961642	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:85961642G>A	ENST00000383699.3	+	6	1276	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	CADM2_ENST00000407528.2_Missense_Mutation_p.E208K|CADM2_ENST00000405615.2_Missense_Mutation_p.E210K	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	208	Ig-like C2-type 1.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		AGTAGATCACGAATCCCTCAA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	86	93			NA	NA	3		NA											NA				85961642		2203	4300	6503	SO:0001583	missense			AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161	253559	253559		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing	29849	protein-coding gene	gene with protein product	nectin-like 3	609938	immunoglobulin superfamily, member 4D	IGSF4D	NA		Standard	NM_153184	NM_153184	NA	Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000383699.3:c.649G>A	3.37:g.85961642G>A	ENSP00000373200:p.Glu217Lys	NA	Q3KQY9|Q658Q7|Q8IZP8	37	CCDS54613.1	.	.	.	.	.	.	.	.	.	.	G	32	5.156200	0.94686	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.76709	-1.04;-1.04;-1.04	5.5	5.5	0.81552	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.048239	0.85682	D	0.000000	T	0.77718	0.4172	L	0.27053	0.805	0.58432	D	0.999991	P;D;D	0.64830	0.882;0.979;0.994	B;P;P	0.56163	0.091;0.558;0.793	T	0.73142	-0.4076	10	0.18710	T	0.47	.	19.3937	0.94596	0.0:0.0:1.0:0.0	.	210;217;208	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	K	217;208;210	ENSP00000373200:E217K;ENSP00000384575:E208K;ENSP00000384193:E210K	ENSP00000373200:E217K	E	+	1	0	CADM2	86044332	1.000000	0.71417	0.970000	0.41538	0.978000	0.69477	9.261000	0.95576	2.583000	0.87209	0.591000	0.81541	GAA	CADM2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352818.2		+	ENST00000383699.3	Missense_Mutation	SNP	3 : 85961642 - 85961642 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	48
PCDH15	65217	broad.mit.edu	37	10	56077098	56077098	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:56077098A>C	ENST00000373965.2	-	8	1203	c.809T>G	c.(808-810)cTt>cGt	p.L270R	PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.L270R|PCDH15_ENST00000414778.1_Missense_Mutation_p.L275R|PCDH15_ENST00000320301.6_Missense_Mutation_p.L270R|PCDH15_ENST00000395430.1_Missense_Mutation_p.L270R|PCDH15_ENST00000395433.1_Missense_Mutation_p.L248R|PCDH15_ENST00000395432.2_Missense_Mutation_p.L233R|PCDH15_ENST00000373955.1_Missense_Mutation_p.L270R|PCDH15_ENST00000395445.1_Missense_Mutation_p.L270R|PCDH15_ENST00000395440.1_Missense_Mutation_p.L270R|PCDH15_ENST00000395442.1_Missense_Mutation_p.L270R|PCDH15_ENST00000437009.1_Missense_Mutation_p.L270R|PCDH15_ENST00000373957.3_Missense_Mutation_p.L248R|PCDH15_ENST00000395446.1_Missense_Mutation_p.L270R|PCDH15_ENST00000395438.1_Missense_Mutation_p.L270R	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	270					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTTTGGCACAAGGACACAAGG	0.463		NA								HNSCC(58;0.16)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													185	143	157			NA	NA	10		NA											NA				56077098		2203	4300	6503	SO:0001583	missense			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275	65217	65217		Cadherins / Cadherin-related	14674	protein-coding gene	gene with protein product	cadherin-related family member 15	605514	deafness, autosomal recessive 23, protocadherin 15	USH1F, DFNB23	NA	11398101, 14570705	Standard	NM_033056	NM_033056	NA	Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.809T>G	10.37:g.56077098A>C	ENSP00000363076:p.Leu270Arg	NA	A6NL19|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	37		.	.	.	.	.	.	.	.	.	.	A	16.73	3.204285	0.58234	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.60920	0.31;0.33;0.26;0.28;0.32;0.55;0.46;0.23;0.15;0.19;0.18;0.15;0.15;0.23;0.36	4.77	4.77	0.60923	.	.	.	.	.	T	0.68118	0.2966	L	0.48362	1.52	0.32019	N	0.600995	D;P;P;B;D;P;D;D;P;B;D;D;D;D;P	0.76494	0.997;0.866;0.506;0.199;0.997;0.866;0.997;0.991;0.506;0.307;0.999;0.999;0.979;0.999;0.506	D;P;B;B;D;P;D;D;B;B;D;D;D;D;B	0.72338	0.958;0.521;0.217;0.099;0.968;0.521;0.958;0.954;0.292;0.217;0.968;0.977;0.951;0.968;0.217	T	0.70063	-0.4975	9	0.30078	T	0.28	.	14.2438	0.65975	1.0:0.0:0.0:0.0	.	248;270;270;275;270;233;270;270;270;270;270;275;270;248;270	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	R	270;275;270;270;270;270;270;270;233;270;248;248;270;270;275;270;270	ENSP00000363076:L270R;ENSP00000410304:L275R;ENSP00000378826:L270R;ENSP00000378832:L270R;ENSP00000378833:L270R;ENSP00000378829:L270R;ENSP00000378827:L270R;ENSP00000378820:L233R;ENSP00000354950:L270R;ENSP00000378821:L248R;ENSP00000363068:L248R;ENSP00000322604:L270R;ENSP00000378818:L270R;ENSP00000412628:L270R;ENSP00000363066:L270R	ENSP00000322604:L270R	L	-	2	0	PCDH15	55747104	0.999000	0.42202	0.983000	0.44433	0.998000	0.95712	7.394000	0.79862	1.901000	0.55032	0.455000	0.32223	CTT	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000291336.1		-	ENST00000373965.2	Missense_Mutation	SNP	10 : 56077098 - 56077098 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	652	69
CEP120	153241	broad.mit.edu	37	5	122718760	122718760	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122718760C>T	ENST00000306467.5	-	12	2084	c.1780G>A	c.(1780-1782)Gca>Aca	p.A594T	CEP120_ENST00000306481.6_Missense_Mutation_p.A568T|CEP120_ENST00000328236.5_Missense_Mutation_p.A594T			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	594						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						GAAAGATCTGCTATCCTGTTA	0.279		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	39	39			NA	NA	5		NA											NA				122718760		2196	4292	6488	SO:0001583	missense			AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944	153241	153241			26690	protein-coding gene	gene with protein product		613446	coiled-coil domain containing 100	CCDC100	NA	17920017	Standard	NM_153223	NM_153223	NA	Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.1780G>A	5.37:g.122718760C>T	ENSP00000303058:p.Ala594Thr	NA	Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	37	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099312	0.56183	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.92	3.03	0.35002	.	0.473474	0.22445	N	0.059966	T	0.46483	0.1395	M	0.66939	2.045	0.80722	D	1	B	0.32893	0.389	B	0.34824	0.19	T	0.39921	-0.9590	10	0.56958	D	0.05	-7.3561	10.6681	0.45743	0.1186:0.8029:0.0:0.0785	.	594	Q8N960	CE120_HUMAN	T	594;594;568;568	ENSP00000303058:A594T;ENSP00000327504:A594T;ENSP00000307419:A568T;ENSP00000421620:A568T	ENSP00000303058:A594T	A	-	1	0	CEP120	122746659	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	0.883000	0.28200	0.292000	0.22492	0.650000	0.86243	GCA	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250899.2		-	ENST00000306467.5	Missense_Mutation	SNP	5 : 122718760 - 122718760 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	140	22
KIF26B	55083	broad.mit.edu	37	1	245851582	245851582	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245851582C>T	ENST00000366518.4	+	9	4258	c.4154C>T	c.(4153-4155)gCg>gTg	p.A1385V	KIF26B_ENST00000407071.2_Missense_Mutation_p.A1766V			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1766					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CTGCCGCAGGCGGTGGGCCAG	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													10	11	11			NA	NA	1		NA											NA				245851582		1509	3329	4838	SO:0001583	missense			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849	55083	55083		Kinesins	25484	protein-coding gene	gene with protein product		614026			NA		Standard	XM_371354	NM_018012	NA	Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000366518.4:c.4154C>T	1.37:g.245851582C>T	ENSP00000355475:p.Ala1385Val	NA	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	37		.	.	.	.	.	.	.	.	.	.	C	12.44	1.938823	0.34189	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.77358	-1.09;-1.09	5.44	5.44	0.79542	.	.	.	.	.	T	0.63367	0.2505	L	0.27053	0.805	0.33178	D	0.549156	P;P	0.36483	0.555;0.555	B;B	0.21151	0.033;0.023	T	0.67711	-0.5600	9	0.15952	T	0.53	.	19.256	0.93945	0.0:1.0:0.0:0.0	.	1385;1766	B7WPD9;Q2KJY2	.;KI26B_HUMAN	V	1766;1385;1382	ENSP00000385545:A1766V;ENSP00000355475:A1385V	ENSP00000355475:A1385V	A	+	2	0	KIF26B	243918205	0.999000	0.42202	0.884000	0.34674	0.396000	0.30629	5.894000	0.69806	2.561000	0.86390	0.462000	0.41574	GCG	KIF26B-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000096658.2		+	ENST00000366518.4	Missense_Mutation	SNP	1 : 245851582 - 245851582 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	186	37
GDAP1L1	78997	broad.mit.edu	37	20	42907813	42907813	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42907813T>A	ENST00000342560.5	+	6	1065	c.977T>A	c.(976-978)gTc>gAc	p.V326D	GDAP1L1_ENST00000537864.1_Missense_Mutation_p.V134D	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	326	GST C-terminal.									endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CTGTCGGCCGTCATCCCCAAT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	118	123			NA	NA	20		NA											NA				42907813		2203	4300	6503	SO:0001583	missense				CCDS13328.1, CCDS74725.1, CCDS74726.1, CCDS74727.1	20q12	2012-02-09	2012-02-09		ENSG00000124194	ENSG00000124194	78997	78997			4213	protein-coding gene	gene with protein product					NA		Standard	NM_024034	NM_024034	NA	Approved		uc010zwl.3	Q96MZ0	OTTHUMG00000032530	ENST00000342560.5:c.977T>A	20.37:g.42907813T>A	ENSP00000341782:p.Val326Asp	NA	Q5TE60|Q68CW7|Q9BQJ7|Q9BQV4|Q9BWJ4|Q9H3Y2|Q9H4G5	37	CCDS13328.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.298469	0.81025	.	.	ENSG00000124194	ENST00000342560;ENST00000372947;ENST00000372946;ENST00000545149;ENST00000438466;ENST00000537864	D;D;D	0.98419	-4.92;-4.92;-4.92	5.14	5.14	0.70334	Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97838	0.9290	L	0.27053	0.805	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.85130	0.991;0.997;0.996	D	0.99834	1.1056	10	0.87932	D	0	.	15.2475	0.73517	0.0:0.0:0.0:1.0	.	268;345;326	B7Z1I3;B7Z621;Q96MZ0	.;.;GD1L1_HUMAN	D	326;321;268;292;268;134	ENSP00000341782:V326D;ENSP00000392881:V268D;ENSP00000440498:V134D	ENSP00000341782:V326D	V	+	2	0	GDAP1L1	42341227	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	7.565000	0.82337	2.064000	0.61679	0.482000	0.46254	GTC	GDAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079356.1		+	ENST00000342560.5	Missense_Mutation	SNP	20 : 42907813 - 42907813 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	787	185
TAF4B	6875	broad.mit.edu	37	18	23866330	23866330	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:23866330C>A	ENST00000269142.5	+	7	2455	c.1457C>A	c.(1456-1458)cCt>cAt	p.P486H	TAF4B_ENST00000578121.1_Missense_Mutation_p.P486H|TAF4B_ENST00000400466.2_Missense_Mutation_p.P486H	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	486					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			TCTGTGAAACCTGTTGTTTCT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384	6875	6875			11538	protein-coding gene	gene with protein product	TATA box binding protein (TBP)-associated factor 4B	601689	TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD	TAF2C2	NA	8858156, 10849440	Standard	NM_005640	XM_005258339	NA	Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.1457C>A	18.37:g.23866330C>A	ENSP00000269142:p.Pro486His	NA	Q29YA4|Q29YA5	37	CCDS42421.1	.	.	.	.	.	.	.	.	.	.	C	9.708	1.156372	0.21454	.	.	ENSG00000141384	ENST00000418698;ENST00000269142;ENST00000400466	T;T;T	0.26067	1.76;1.79;1.76	5.28	4.4	0.53042	.	0.319646	0.29846	N	0.011058	T	0.30885	0.0779	L	0.32530	0.975	0.20821	N	0.999847	D;D	0.69078	0.997;0.983	P;P	0.55667	0.781;0.635	T	0.06552	-1.0820	10	0.66056	D	0.02	-3.3309	11.2792	0.49184	0.0:0.9146:0.0:0.0854	.	486;486	Q92750;A4PBF7	TAF4B_HUMAN;.	H	486	ENSP00000389365:P486H;ENSP00000269142:P486H;ENSP00000383314:P486H	ENSP00000269142:P486H	P	+	2	0	TAF4B	22120328	0.043000	0.20138	0.658000	0.29665	0.859000	0.49053	2.122000	0.41987	2.483000	0.83821	0.557000	0.71058	CCT	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000446260.3		+	ENST00000269142.5	Missense_Mutation	SNP	18 : 23866330 - 23866330 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	608	109
LRRN1	57633	broad.mit.edu	37	3	3888139	3888139	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:3888139C>T	ENST00000319331.3	+	2	2575	c.1814C>T	c.(1813-1815)aCt>aTt	p.T605I	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	605	Fibronectin type-III.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CATCAGCAGACTCAAAAGTCA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													170	165	166			NA	NA	3		NA											NA				3888139		2203	4300	6503	SO:0001583	missense			AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928	57633	57633		Immunoglobulin superfamily / I-set domain containing	20980	protein-coding gene	gene with protein product	fibronectin type III, immunoglobulin and leucine rich repeat domains 3				NA	10819331	Standard	NM_020873	NM_020873	NA	Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.1814C>T	3.37:g.3888139C>T	ENSP00000314901:p.Thr605Ile	NA	Q3LID5|Q8IYV5|Q9H8V1|Q9P231	37	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.881468	0.51801	.	.	ENSG00000175928	ENST00000319331	T	0.49432	0.78	5.5	5.5	0.81552	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.152121	0.64402	D	0.000014	T	0.39733	0.1089	L	0.38838	1.175	0.58432	D	0.999998	P	0.37122	0.583	B	0.30646	0.118	T	0.24297	-1.0164	10	0.38643	T	0.18	.	19.7663	0.96342	0.0:1.0:0.0:0.0	.	605	Q6UXK5	LRRN1_HUMAN	I	605	ENSP00000314901:T605I	ENSP00000314901:T605I	T	+	2	0	LRRN1	3863139	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.581000	0.60949	2.741000	0.93983	0.650000	0.86243	ACT	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337704.2		+	ENST00000319331.3	Missense_Mutation	SNP	3 : 3888139 - 3888139 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	769	150
SLC41A1	254428	broad.mit.edu	37	1	205779550	205779550	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205779550G>A	ENST00000367137.3	-	2	1034	c.20C>T	c.(19-21)cCg>cTg	p.P7L		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	7						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GACGTCCTTCGGCTCTGGCTT	0.552		NA									OREG0014163	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	85	83			NA	NA	1		NA											NA				205779550		2203	4300	6503	SO:0001583	missense			AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065	254428	254428		Solute carriers	19429	protein-coding gene	gene with protein product		610801			NA	12810078, 18367447	Standard		NM_173854	NA	Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.20C>T	1.37:g.205779550G>A	ENSP00000356105:p.Pro7Leu	2154	Q63HJ4|Q658Z5|Q659A4|Q6MZK2	37	CCDS30988.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.181026	0.38511	.	.	ENSG00000133065	ENST00000367137	T	0.30714	1.52	5.64	3.78	0.43462	.	0.360313	0.28665	N	0.014554	T	0.21921	0.0528	L	0.39898	1.24	0.34108	D	0.662706	B	0.02656	0.0	B	0.01281	0.0	T	0.15954	-1.0419	10	0.39692	T	0.17	-8.2833	5.6147	0.17423	0.1614:0.0:0.645:0.1936	.	7	Q8IVJ1	S41A1_HUMAN	L	7	ENSP00000356105:P7L	ENSP00000356105:P7L	P	-	2	0	SLC41A1	204046173	0.930000	0.31532	0.805000	0.32314	0.851000	0.48451	1.331000	0.33793	0.751000	0.32900	-0.266000	0.10368	CCG	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087731.1		-	ENST00000367137.3	Missense_Mutation	SNP	1 : 205779550 - 205779550 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	669	144
FANCM	57697	broad.mit.edu	37	14	45605403	45605403	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45605403T>C	ENST00000542564.2	+	1	247	c.169T>C	c.(169-171)Ttg>Ctg	p.L57L	FANCM_ENST00000267430.5_Silent_p.L57L|FANCM_ENST00000556036.1_Silent_p.L57L			Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	57					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CGATGATGTGTTGCTTGTCGC	0.632		NA						Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	76	77			NA	NA	14		NA											NA				45605403		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790	57697	57697		Fanconi anemia, complementation groups	23168	protein-coding gene	gene with protein product		609644	KIAA1596	KIAA1596	NA	10997877, 16116422	Standard	XM_048128	NM_020937	NA	Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000542564.2:c.169T>C	14.37:g.45605403T>C		NA	Q3YFH9|Q8N9X6|Q9HCH6	37																																																																																				FANCM-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000410475.1		+	ENST00000542564.2	Silent	SNP	14 : 45605403 - 45605403 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	469	26
SMAP2	64744	broad.mit.edu	37	1	40874336	40874336	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40874336G>A	ENST00000539317.1	+	3	202	c.9G>A	c.(7-9)gaG>gaA	p.E3E		NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	83					regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			GCATGCAAGAGATGGGAAATG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	143	153			NA	NA	1		NA											NA				40874336		2203	4300	6503	SO:0001819	synonymous_variant			AL137764	CCDS451.1, CCDS55592.1, CCDS55593.1, CCDS72763.1	1p35.3-p34.1	2008-09-22	2008-09-05	2008-01-09	ENSG00000084070	ENSG00000084070	64744	64744		ADP-ribosylation factor GTPase activating proteins	25082	protein-coding gene	gene with protein product			stromal membrane-associated protein 1-like, stromal membrane-associated GTPase-activating protein 2	SMAP1L	NA	16571680	Standard	NM_022733	NM_001198978	NA	Approved		uc001cfj.3	Q8WU79	OTTHUMG00000007301	ENST00000539317.1:c.9G>A	1.37:g.40874336G>A		NA	B2R7T1|B7Z8V2|D3DPV2|Q5QPL2|Q96C93|Q9NST2|Q9UJL8	37	CCDS55593.1																																																																																			SMAP2-201	KNOWN	basic|CCDS	protein_coding	NA	protein_coding			+	ENST00000539317.1	Silent	SNP	1 : 40874336 - 40874336 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	407	21
AEN	64782	broad.mit.edu	37	15	89169883	89169883	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89169883G>A	ENST00000332810.3	+	2	594	c.443G>A	c.(442-444)aGg>aAg	p.R148K	AEN_ENST00000379231.3_Missense_Mutation_p.R148K	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	148	Exonuclease.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						AAGTACATCAGGCCTGAGATG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	74	75			NA	NA	15		NA											NA				89169883		2200	4299	6499	SO:0001583	missense			BC020988	CCDS10344.1	15q26.1	2008-07-15	2008-07-15	2008-07-15	ENSG00000181026	ENSG00000181026	64782	64782			25722	protein-coding gene	gene with protein product		610177	interferon stimulated exonuclease gene 20kDa-like 1	ISG20L1	NA	18264133, 16171785	Standard	NM_022767	NM_022767	NA	Approved	FLJ12484, FLJ12562	uc002bmt.2	Q8WTP8	OTTHUMG00000148681	ENST00000332810.3:c.443G>A	15.37:g.89169883G>A	ENSP00000331944:p.Arg148Lys	NA	C9J571|Q9BSA5|Q9H9X7	37	CCDS10344.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741046	0.30865	.	.	ENSG00000181026	ENST00000332810;ENST00000379231	T;T	0.27890	1.64;1.64	5.32	1.26	0.21427	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.858239	0.10110	N	0.714869	T	0.09468	0.0233	N	0.01751	-0.74	0.09310	N	0.999997	B;B	0.11235	0.004;0.004	B;B	0.16289	0.009;0.015	T	0.37056	-0.9722	10	0.09590	T	0.72	-11.5789	3.8604	0.08993	0.2922:0.0:0.4457:0.2621	.	148;148	Q8WTP8-2;Q8WTP8	.;AEN_HUMAN	K	148	ENSP00000331944:R148K;ENSP00000368533:R148K	ENSP00000331944:R148K	R	+	2	0	AEN	86970887	0.986000	0.35501	0.946000	0.38457	0.965000	0.64279	1.355000	0.34068	-0.014000	0.14175	0.609000	0.83330	AGG	AEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000309071.1		+	ENST00000332810.3	Missense_Mutation	SNP	15 : 89169883 - 89169883 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	649	96
P2RY13	53829	broad.mit.edu	37	3	151046509	151046509	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151046509C>T	ENST00000325602.5	-	2	354	c.335G>A	c.(334-336)aGa>aAa	p.R112K	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	112						integral to membrane|plasma membrane				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			CACAAAAGCTCTGAGCTGCCA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	81	82			NA	NA	3		NA											NA				151046509		2203	4300	6503	SO:0001583	missense			AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631	53829	53829		Purinergic receptors, GPCR / Class A : Purinergic receptors, P2Y	4537	protein-coding gene	gene with protein product		606380	G protein-coupled receptor 86	GPR94, GPR86	NA	11273702, 11574155	Standard	NM_023914	NM_176894	NA	Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.335G>A	3.37:g.151046509C>T	ENSP00000320376:p.Arg112Lys	NA	B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	37	CCDS3158.2	.	.	.	.	.	.	.	.	.	.	C	11.33	1.608147	0.28623	.	.	ENSG00000181631	ENST00000325602	T	0.36520	1.25	5.77	5.77	0.91146	GPCR, rhodopsin-like superfamily (1);	0.105580	0.56097	D	0.000035	T	0.20333	0.0489	N	0.12961	0.28	0.09310	N	1	P	0.37083	0.581	B	0.41946	0.371	T	0.31696	-0.9934	10	0.05620	T	0.96	-16.0216	7.5497	0.27788	0.0:0.8056:0.0:0.1944	.	112	Q9BPV8	P2Y13_HUMAN	K	112	ENSP00000320376:R112K	ENSP00000320376:R112K	R	-	2	0	P2RY13	152529199	0.123000	0.22298	0.094000	0.20943	0.688000	0.40055	2.268000	0.43338	2.720000	0.93068	0.557000	0.71058	AGA	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341468.1		-	ENST00000325602.5	Missense_Mutation	SNP	3 : 151046509 - 151046509 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	514	88
RYR3	6263	broad.mit.edu	37	15	33954523	33954523	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33954523C>T	ENST00000389232.4	+	35	4862	c.4792C>T	c.(4792-4794)Ctc>Ttc	p.L1598F	RYR3_ENST00000415757.3_Missense_Mutation_p.L1598F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1598	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAACAAGTACCTCCCCGGCCT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	82	83			NA	NA	15		NA											NA				33954523		2018	4189	6207	SO:0001583	missense				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838	6263	6263		Ion channels / Ryanodine receptors, EF-hand domain containing	10485	protein-coding gene	gene with protein product		180903			NA	8276408	Standard		NM_001036	NA	Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.4792C>T	15.37:g.33954523C>T	ENSP00000373884:p.Leu1598Phe	NA	O15175|Q15412	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567655	0.65651	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.76060	-0.99;-0.99	4.89	3.96	0.45880	.	0.000000	0.64402	D	0.000005	D	0.84633	0.5515	M	0.83012	2.62	0.49213	D	0.999769	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.98	D	0.85319	0.1083	10	0.87932	D	0	.	8.4807	0.33040	0.0:0.7771:0.0:0.2229	.	1598;1598	Q15413-2;Q15413	.;RYR3_HUMAN	F	1598	ENSP00000373884:L1598F;ENSP00000399610:L1598F	ENSP00000354735:L1598F	L	+	1	0	RYR3	31741815	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.494000	0.35616	1.270000	0.44297	0.650000	0.86243	CTC	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417514.1		+	ENST00000389232.4	Missense_Mutation	SNP	15 : 33954523 - 33954523 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	103	16
PTPRT	11122	broad.mit.edu	37	20	40735471	40735471	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40735471G>A	ENST00000373198.4	-	25	3637	c.3402C>T	c.(3400-3402)tgC>tgT	p.C1134C	PTPRT_ENST00000373187.1_Silent_p.C1115C|PTPRT_ENST00000373201.1_Silent_p.C1105C|PTPRT_ENST00000373193.3_Silent_p.C1118C|PTPRT_ENST00000373184.1_Silent_p.C1125C|PTPRT_ENST00000373190.1_Silent_p.C1114C|PTPRT_ENST00000356100.2_Silent_p.C1124C	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	NA	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCTCACGCACGCAGTTGAAGA	0.582		NA											G	2	9e-04	NA	NA	2184	0.0035	1	,	,	NA	3e-04	NA	NA	NA	9e-04	1	LOWCOV	NA	NA	5e-04	SNP								NA				0													95	105	102			NA	NA	20		NA											NA				40735471		2114	4235	6349	SO:0001819	synonymous_variant			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090	11122	11122		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	9682	protein-coding gene	gene with protein product		608712			NA	9486824, 9602027	Standard		NM_133170	NA	Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373198.4:c.3402C>T	20.37:g.40735471G>A		NA	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	37																																																																																				PTPRT-005	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000080318.2		-	ENST00000373198.4	Silent	SNP	20 : 40735471 - 40735471 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	641	123
NUP188	23511	broad.mit.edu	37	9	131730896	131730896	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131730896C>T	ENST00000372577.2	+	9	718	c.697C>T	c.(697-699)Ctt>Ttt	p.L233F		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	233					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CAGTGACTTACTTGTATTAAC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	150	154			NA	NA	9		NA											NA				131730896		2203	4300	6503	SO:0001583	missense			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319	23511	23511			17859	protein-coding gene	gene with protein product		615587	KIAA0169	KIAA0169	NA	11029043	Standard		NM_015354	NA	Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.697C>T	9.37:g.131730896C>T	ENSP00000361658:p.Leu233Phe	NA	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	37	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	c	14.70	2.613707	0.46631	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.35048	1.33	5.53	-2.97	0.05530	.	0.193822	0.45867	N	0.000321	T	0.38558	0.1045	L	0.29908	0.895	0.09310	N	1	D	0.69078	0.997	D	0.67548	0.952	T	0.39035	-0.9633	10	0.33940	T	0.23	-25.4788	11.839	0.52342	0.0:0.5586:0.0:0.4414	.	233	Q5SRE5	NU188_HUMAN	F	122;233	ENSP00000361658:L233F	ENSP00000349125:L122F	L	+	1	0	NUP188	130770717	0.007000	0.16637	0.000000	0.03702	0.644000	0.38419	0.153000	0.16323	-0.855000	0.04125	-0.213000	0.12676	CTT	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054529.2		+	ENST00000372577.2	Missense_Mutation	SNP	9 : 131730896 - 131730896 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	588	107
CEACAM5	1048	broad.mit.edu	37	19	42222194	42222194	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42222194T>A	ENST00000398599.4	+	6	1529	c.1382T>A	c.(1381-1383)cTc>cAc	p.L461H	CEACAM5_ENST00000405816.1_Missense_Mutation_p.L462H|CEACAM5_ENST00000221992.6_Missense_Mutation_p.L462H|CEA_ENST00000598976.1_Intron			P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	462	Ig-like 5.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		ACACAAGAGCTCTTTATCTCC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	103	111			NA	NA	19		NA											NA				42222194		2203	4300	6503	SO:0001583	missense			M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388	1048	1048		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	1817	protein-coding gene	gene with protein product		114890		CEA	NA		Standard	NM_004363	XM_005258413	NA	Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000398599.4:c.1382T>A	19.37:g.42222194T>A	ENSP00000381600:p.Leu461His	NA		37		.	.	.	.	.	.	.	.	.	.	T	13.88	2.367673	0.42003	.	.	ENSG00000105388	ENST00000221992;ENST00000405816;ENST00000378181	D;D	0.89415	-2.51;-2.51	2.39	2.39	0.29439	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.96599	0.8890	H	0.99863	4.86	0.19300	N	0.999978	P;D	0.76494	0.921;0.999	D;D	0.74674	0.936;0.984	D	0.87983	0.2744	9	0.87932	D	0	.	6.7185	0.23316	0.0:0.0:0.0:1.0	.	462;462	P06731;Q53G30	CEAM5_HUMAN;.	H	462;462;180	ENSP00000221992:L462H;ENSP00000385072:L462H	ENSP00000221992:L462H	L	+	2	0	CEACAM5	46914034	0.022000	0.18835	0.433000	0.26760	0.046000	0.14306	1.093000	0.30939	1.361000	0.45981	0.433000	0.28618	CTC	CEACAM5-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000321133.2		+	ENST00000398599.4	Missense_Mutation	SNP	19 : 42222194 - 42222194 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	500	99
HINFP	25988	broad.mit.edu	37	11	119003439	119003439	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119003439C>T	ENST00000527410.1	+	7	857	c.823C>T	c.(823-825)Cgc>Tgc	p.R275C	HINFP_ENST00000350777.2_Missense_Mutation_p.R275C			Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	275					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CAACCACATGCGCTTTCGTCA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	119	122			NA	NA	11		NA											NA				119003439		2200	4295	6495	SO:0001583	missense			AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273	25988	25988		Zinc fingers, C2H2-type	17850	protein-coding gene	gene with protein product	histone nuclear factor P	607099	MBD2-interacting zinc finger 1, MBD2-interacting zinc finger	MIZF	NA	11553631	Standard	NM_015517	NM_015517	NA	Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000527410.1:c.823C>T	11.37:g.119003439C>T	ENSP00000436815:p.Arg275Cys	NA	B3KPH6|Q96E65|Q9Y4M7	37	CCDS58188.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217362	0.79352	.	.	ENSG00000172273	ENST00000350777;ENST00000527410	T;T	0.58506	0.33;0.33	5.71	5.71	0.89125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.048851	0.85682	D	0.000000	T	0.80555	0.4645	M	0.86651	2.83	0.58432	D	0.999999	D	0.89917	1.0	D	0.73380	0.98	T	0.83168	-0.0095	10	0.87932	D	0	-32.0835	19.8599	0.96779	0.0:1.0:0.0:0.0	.	275	Q9BQA5	HINFP_HUMAN	C	275	ENSP00000318085:R275C;ENSP00000436815:R275C	ENSP00000318085:R275C	R	+	1	0	HINFP	118508649	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.682000	0.68182	2.710000	0.92621	0.655000	0.94253	CGC	HINFP-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388205.1		+	ENST00000527410.1	Missense_Mutation	SNP	11 : 119003439 - 119003439 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	597	19
MKL1	57591	broad.mit.edu	37	22	40817021	40817021	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40817021C>T	ENST00000402042.1	-	9	1157	c.561G>A	c.(559-561)aaG>aaA	p.K187K	MKL1_ENST00000396617.3_Silent_p.K237K|MKL1_ENST00000355630.3_Silent_p.K237K|MKL1_ENST00000407029.1_Silent_p.K237K	NM_001282661.1	NP_001269590.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	237	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						ACTGGTGGTACTTGAGCTTCT	0.592		NA	T	RBM15	acute megakaryocytic leukemia									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	0													138	117	124			NA	NA	22		NA											NA				40817021		2203	4300	6503	SO:0001819	synonymous_variant			AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588	57591	57591			14334	protein-coding gene	gene with protein product	megakaryocytic acute leukemia, myocardin-related transcription factor A, basic, SAP and coiled-coil domain	606078			NA	11431691, 12019265, 14970199	Standard	NM_020831	XM_005261692	NA	Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000402042.1:c.561G>A	22.37:g.40817021C>T		NA	Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	37																																																																																				MKL1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000321523.1		-	ENST00000402042.1	Silent	SNP	22 : 40817021 - 40817021 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	422	77
PIK3R2	5296	broad.mit.edu	37	19	18273018	18273018	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18273018C>T	ENST00000593731.1	+	8	1468	c.908C>T	c.(907-909)cCg>cTg	p.P303L	PIK3R2_ENST00000222254.8_Missense_Mutation_p.P303L			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	303					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						CCAGCGCTGCCGCCTAAACCC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	24	24			NA	NA	19		NA											NA				18273018		2201	4297	6498	SO:0001583	missense				CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647	5296	5296		SH2 domain containing	8980	protein-coding gene	gene with protein product		603157			NA	1314371	Standard	NM_005027	NM_005027	NA	Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.908C>T	19.37:g.18273018C>T	ENSP00000471914:p.Pro303Leu	NA	Q5EAT5|Q9UPH9	37	CCDS12371.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437493	0.83885	.	.	ENSG00000105647	ENST00000222254	T	0.52057	0.68	4.16	4.16	0.48862	.	0.114304	0.64402	D	0.000010	T	0.70002	0.3174	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76402	-0.2972	10	0.87932	D	0	-12.1593	15.8108	0.78561	0.0:1.0:0.0:0.0	.	303	O00459	P85B_HUMAN	L	303	ENSP00000222254:P303L	ENSP00000222254:P303L	P	+	2	0	PIK3R2	18134018	1.000000	0.71417	0.933000	0.37362	0.752000	0.42762	7.627000	0.83176	2.054000	0.61138	0.491000	0.48974	CCG	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000466386.2		+	ENST00000593731.1	Missense_Mutation	SNP	19 : 18273018 - 18273018 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	162	21
DTL	51514	broad.mit.edu	37	1	212251574	212251574	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212251574T>G	ENST00000366991.4	+	12	1409	c.1095T>G	c.(1093-1095)tcT>tcG	p.S365S	DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Silent_p.S323S	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	365					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		AGGTCACGTCTGTGTGCTGGT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	132	137			NA	NA	1		NA											NA				212251574		2203	4300	6503	SO:0001819	synonymous_variant			AF195765	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476	51514	51514		DDB1 and CUL4 associated factors, WD repeat domain containing	30288	protein-coding gene	gene with protein product	RA regulated nuclear matrix associated protein, DDB1 and CUL4 associated factor 2	610617	denticleless homolog (Drosophila)		NA	11278750	Standard	NM_016448	NM_001286229	NA	Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	Q9NZJ0	OTTHUMG00000037133	ENST00000366991.4:c.1095T>G	1.37:g.212251574T>G		NA	A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	37	CCDS1502.1																																																																																			DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090182.1		+	ENST00000366991.4	Silent	SNP	1 : 212251574 - 212251574 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	458	101
NOL4	8715	broad.mit.edu	37	18	31463241	31463241	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31463241C>G	ENST00000535384.1	-	6	1073	c.835G>C	c.(835-837)Ggt>Cgt	p.G279R	NOL4_ENST00000538587.1_Missense_Mutation_p.G490R|NOL4_ENST00000261592.5_Missense_Mutation_p.G564R|NOL4_ENST00000269185.4_Missense_Mutation_p.G348R|NOL4_ENST00000535475.1_Missense_Mutation_p.G345R|NOL4_ENST00000589544.1_Missense_Mutation_p.G462R	NM_001198549.1	NP_001185478.1	O94818	NOL4_HUMAN	nucleolar protein 4	564						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TTTAGCAGACCCCCTCCTAGC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													187	164	172			NA	NA	18		NA											NA				31463241		2203	4300	6503	SO:0001583	missense			AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746	8715	8715			7870	protein-coding gene	gene with protein product	cancer/testis antigen 125	603577			NA	9813152	Standard	NM_003787	NM_003787	NA	Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000535384.1:c.835G>C	18.37:g.31463241C>G	ENSP00000445733:p.Gly279Arg	NA	Q6IBS2|Q9BWF1	37	CCDS56058.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338414	0.81911	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000535384;ENST00000535475;ENST00000538587	.	.	.	5.7	5.7	0.88788	.	0.077818	0.53938	D	0.000046	T	0.73745	0.3626	L	0.43152	1.355	0.53688	D	0.999978	P;P;P;B;D;D	0.89917	0.73;0.773;0.773;0.435;1.0;0.988	B;B;B;B;D;P	0.87578	0.316;0.316;0.232;0.157;0.998;0.824	T	0.67711	-0.5600	9	0.25751	T	0.34	-13.3835	19.8045	0.96525	0.0:1.0:0.0:0.0	.	279;490;564;279;462;345	B7Z3Z7;B4DSQ0;O94818;F5H1E3;O94818-2;B3KRF4	.;.;NOL4_HUMAN;.;.;.	R	564;348;279;345;490	.	ENSP00000261592:G564R	G	-	1	0	NOL4	29717239	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.639000	0.67868	2.676000	0.91093	0.563000	0.77884	GGT	NOL4-006	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442111.1		-	ENST00000535384.1	Missense_Mutation	SNP	18 : 31463241 - 31463241 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	997	65
NES	10763	broad.mit.edu	37	1	156641102	156641102	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156641102C>A	ENST00000368223.3	-	4	3010	c.2878G>T	c.(2878-2880)Gaa>Taa	p.E960*		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	960	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGAGCCAGTTCTTGGTCCTTC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													198	210	206			NA	NA	1		NA											NA				156641102		2203	4300	6503	SO:0001587	stop_gained			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688	10763	10763		Intermediate filaments type IV	7756	protein-coding gene	gene with protein product		600915			NA	1478958, 9104587	Standard	NM_006617	NM_006617	NA	Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.2878G>T	1.37:g.156641102C>A	ENSP00000357206:p.Glu960*	NA	O00552|Q3LIF5|Q5SYZ6	37	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	39	7.592787	0.98378	.	.	ENSG00000132688	ENST00000368223	.	.	.	5.22	5.22	0.72569	.	0.255042	0.20715	N	0.087003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.3428	0.87301	0.0:1.0:0.0:0.0	.	.	.	.	X	960	.	ENSP00000357206:E960X	E	-	1	0	NES	154907726	0.046000	0.20272	0.009000	0.14445	0.016000	0.09150	3.680000	0.54641	2.454000	0.82982	0.563000	0.77884	GAA	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000082844.2		-	ENST00000368223.3	Nonsense_Mutation	SNP	1 : 156641102 - 156641102 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1368	125
KSR1	8844	broad.mit.edu	37	17	25937132	25937132	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25937132C>T	ENST00000398988.3	+	19	2365	c.1920C>T	c.(1918-1920)tgC>tgT	p.C640C	KSR1_ENST00000509603.2_Silent_p.C755C|KSR1_ENST00000319524.6_Silent_p.C777C|KSR1_ENST00000268763.6_Silent_p.C640C|KSR1_ENST00000582410.1_5'UTR	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	775	Protein kinase.				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		ACTGGCTGTGCTATCTGGCCC	0.577		NA									OREG0024262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(88;1120 1336 6324 10502 16832)							NA				0													93	97	96			NA	NA	17		NA											NA				25937132		2029	4194	6223	SO:0001819	synonymous_variant			U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068	8844	8844			6465	protein-coding gene	gene with protein product		601132	kinase suppressor of ras	KSR	NA	8521512	Standard	NM_014238	XM_006722151	NA	Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000398988.3:c.1920C>T	17.37:g.25937132C>T		782	Q13476	37	CCDS58532.1																																																																																			KSR1-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255074.2		+	ENST00000398988.3	Silent	SNP	17 : 25937132 - 25937132 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	554	100
FAM208B	54906	broad.mit.edu	37	10	5773107	5773107	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5773107C>T	ENST00000328090.5	+	11	1770	c.1145C>T	c.(1144-1146)tCg>tTg	p.S382L	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	382											NA						GACAACAGCTCGGACTCTCCA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	54	54			NA	NA	10		NA											NA				5773107		1911	4106	6017	SO:0001583	missense			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021	54906	54906			23484	protein-coding gene	gene with protein product			chromosome 10 open reading frame 18	C10orf18	NA	12477932	Standard	NM_017782	NM_017782	NA	Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.1145C>T	10.37:g.5773107C>T	ENSP00000328426:p.Ser382Leu	NA	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	37	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	C	6.371	0.436543	0.12104	.	.	ENSG00000108021	ENST00000328090	D	0.98684	-5.07	5.19	2.22	0.28083	.	0.784920	0.11062	N	0.603913	D	0.96327	0.8802	L	0.54323	1.7	0.09310	N	1	B	0.27068	0.167	B	0.17433	0.018	D	0.92218	0.5782	10	0.51188	T	0.08	.	5.3882	0.16229	0.1378:0.6157:0.0:0.2465	.	382	Q5VWN6	F208B_HUMAN	L	382	ENSP00000328426:S382L	ENSP00000328426:S382L	S	+	2	0	C10orf18	5813113	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	0.044000	0.13992	0.371000	0.24564	-1.131000	0.01979	TCG	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046571.2		+	ENST00000328090.5	Missense_Mutation	SNP	10 : 5773107 - 5773107 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	469	94
PRKCG	5582	broad.mit.edu	37	19	54401709	54401709	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54401709C>T	ENST00000263431.3	+	11	1390	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C	PRKCG_ENST00000536044.1_3'UTR|PRKCG_ENST00000540413.1_Missense_Mutation_p.R370C|PRKCG_ENST00000542049.1_Missense_Mutation_p.R257C	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	370	Protein kinase.				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)		GCTGGCCGAGCGCAGGGGCTC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	54	56			NA	NA	19		NA											NA				54401709		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.1108C>T	19.37:g.54401709C>T	ENSP00000263431:p.Arg370Cys	NA		37	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224028	0.79576	.	.	ENSG00000126583	ENST00000540413;ENST00000263431;ENST00000542049	T;T;T	0.66995	-0.24;-0.24;-0.24	5.07	5.07	0.68467	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.68696	0.3029	L	0.31476	0.935	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.998;0.997	P;P;P	0.61800	0.894;0.819;0.887	T	0.71523	-0.4567	9	0.87932	D	0	.	11.434	0.50058	0.1803:0.8197:0.0:0.0	.	257;370;370	B7Z8Q0;F5H5C4;P05129	.;.;KPCG_HUMAN	C	370;370;257	ENSP00000443493:R370C;ENSP00000263431:R370C;ENSP00000438090:R257C	ENSP00000263431:R370C	R	+	1	0	PRKCG	59093521	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.669000	0.37492	2.528000	0.85240	0.561000	0.74099	CGC	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000139233.3		+	ENST00000263431.3	Missense_Mutation	SNP	19 : 54401709 - 54401709 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	304	11
IQSEC3	440073	broad.mit.edu	37	12	176596	176596	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:176596G>T	ENST00000538872.1	+	1	666	c.548G>T	c.(547-549)aGa>aTa	p.R183I	IQSEC3_ENST00000326261.4_Missense_Mutation_p.R183I			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	183					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CTGAGCAGGAGACCTGAGTGA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	36	33			NA	NA	12		NA											NA				176596		1568	3582	5150	SO:0001583	missense			AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645	440073	440073			29193	protein-coding gene	gene with protein product		612118			NA	10470851	Standard	XM_495902	NM_001170738	NA	Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.548G>T	12.37:g.176596G>T	ENSP00000437554:p.Arg183Ile	NA	A6NIF2|A6NKV9|Q8TB43	37	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	g	16.82	3.227833	0.58777	.	.	ENSG00000120645	ENST00000538872;ENST00000326261	T;T	0.10192	2.9;2.9	4.28	4.28	0.50868	.	7.977520	0.00166	N	0.000000	T	0.20618	0.0496	L	0.51422	1.61	0.47994	D	0.999564	.	.	.	.	.	.	T	0.17899	-1.0354	8	0.46703	T	0.11	.	7.9494	0.30006	0.1103:0.0:0.8897:0.0	.	.	.	.	I	183	ENSP00000437554:R183I;ENSP00000315662:R183I	ENSP00000315662:R183I	R	+	2	0	IQSEC3	46857	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.725000	0.68507	2.187000	0.69744	0.561000	0.74099	AGA	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397382.3		+	ENST00000538872.1	Missense_Mutation	SNP	12 : 176596 - 176596 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	206	24
ECE1	1889	broad.mit.edu	37	1	21553685	21553685	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21553685C>T	ENST00000436918.2	-	16	1865	c.1816G>A	c.(1816-1818)Ggc>Agc	p.G606S	ECE1_ENST00000415912.2_Missense_Mutation_p.G590S|ECE1_ENST00000357071.4_Missense_Mutation_p.G594S|ECE1_ENST00000374893.6_Missense_Mutation_p.G606S|ECE1_ENST00000264205.6_Missense_Mutation_p.G603S			P42892	ECE1_HUMAN	endothelin converting enzyme 1	606					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		AGCTCATGGCCCACGACGACA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	126	136			NA	NA	1		NA											NA				21553685		2203	4300	6503	SO:0001583	missense			D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298	1889	1889			3146	protein-coding gene	gene with protein product		600423		ECE	NA	7805846, 7864876, 17592116	Standard	NM_001397	NM_001397	NA	Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000436918.2:c.1816G>A	1.37:g.21553685C>T	ENSP00000388439:p.Gly606Ser	NA	A8K3P1|B4E291|Q14217|Q17RN5|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	37		.	.	.	.	.	.	.	.	.	.	C	35	5.427961	0.96131	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29	5.15	5.15	0.70609	Peptidase M13, neprilysin, C-terminal (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95287	0.8471	M	0.93854	3.465	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.997;0.999;0.991;0.995	D	0.96328	0.9241	10	0.87932	D	0	-35.2293	17.5678	0.87924	0.0:1.0:0.0:0.0	.	606;590;606;594;603	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	S	590;594;606;606;603	ENSP00000405088:G590S;ENSP00000349581:G594S;ENSP00000364028:G606S;ENSP00000388439:G606S;ENSP00000264205:G603S	ENSP00000264205:G603S	G	-	1	0	ECE1	21426272	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.412000	0.80091	2.556000	0.86216	0.555000	0.69702	GGC	ECE1-008	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000007476.2		-	ENST00000436918.2	Missense_Mutation	SNP	1 : 21553685 - 21553685 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	20
UBR2	23304	broad.mit.edu	37	6	42658801	42658801	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42658801C>T	ENST00000372901.1	+	47	5416	c.5158C>T	c.(5158-5160)Cga>Tga	p.R1720*	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372899.1_Nonsense_Mutation_p.R1720*			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1720					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ATGCAAAGAGCGATTCAAGAA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	101	102			NA	NA	6		NA											NA				42658801		2203	4300	6503	SO:0001587	stop_gained			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048	23304	23304		Ubiquitin protein ligase E3 component n-recognins	21289	protein-coding gene	gene with protein product		609134	chromosome 6 open reading frame 133	C6orf133	NA		Standard	NM_015255	NM_015255	NA	Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372901.1:c.5158C>T	6.37:g.42658801C>T	ENSP00000361992:p.Arg1720*	NA	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	37		.	.	.	.	.	.	.	.	.	.	C	47	12.963440	0.99709	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.2902	20.3277	0.98707	0.0:1.0:0.0:0.0	.	.	.	.	X	1720	.	ENSP00000361990:R1720X	R	+	1	2	UBR2	42766779	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	5.985000	0.70556	2.879000	0.98667	0.650000	0.86243	CGA	UBR2-002	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000144880.1		+	ENST00000372901.1	Nonsense_Mutation	SNP	6 : 42658801 - 42658801 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	525	76
MAPT	4137	broad.mit.edu	37	17	44051802	44051802	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44051802C>T	ENST00000415613.2	+	3	272	c.272C>T	c.(271-273)gCg>gTg	p.A91V	MAPT_ENST00000347967.5_Intron|MAPT_ENST00000576518.1_5'UTR|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.A91V|MAPT_ENST00000262410.5_Missense_Mutation_p.A91V|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000431008.3_Missense_Mutation_p.A91V|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000344290.5_Missense_Mutation_p.A91V|MAPT_ENST00000351559.5_Missense_Mutation_p.A91V|MAPT_ENST00000574436.1_Missense_Mutation_p.A91V|MAPT_ENST00000535772.1_Missense_Mutation_p.A91V|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000334239.8_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	91					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				CAGGCTGCCGCGCAGCCCCAC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	24	25			NA	NA	17		NA											NA				44051802		2201	4299	6500	SO:0001583	missense			J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868	4137	4137			6893	protein-coding gene	gene with protein product	G protein beta1/gamma2 subunit-interacting factor 1, microtubule-associated protein tau, isoform 4, protein phosphatase 1, regulatory subunit 103	157140		DDPAC, MAPTL	NA	7936241, 3131773	Standard	NM_016835	NM_001123067	NA	Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000415613.2:c.272C>T	17.37:g.44051802C>T	ENSP00000410838:p.Ala91Val	NA	P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	37	CCDS45715.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574214	0.86542	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000351559;ENST00000535772;ENST00000415613	T;T;T;T;T	0.28255	2.56;2.56;1.62;1.69;2.56	5.39	5.39	0.77823	.	0.000000	0.39407	N	0.001378	T	0.47563	0.1452	L	0.51422	1.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.98;0.944;0.955	T	0.19031	-1.0318	10	0.27082	T	0.32	-15.5257	14.651	0.68797	0.0:1.0:0.0:0.0	.	91;91;91	P10636-9;P10636-8;P10636	.;.;TAU_HUMAN	V	91	ENSP00000340820:A91V;ENSP00000262410:A91V;ENSP00000303214:A91V;ENSP00000443028:A91V;ENSP00000410838:A91V	ENSP00000262410:A91V	A	+	2	0	MAPT	41407638	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	3.944000	0.56629	2.556000	0.86216	0.561000	0.74099	GCG	MAPT-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401265.1		+	ENST00000415613.2	Missense_Mutation	SNP	17 : 44051802 - 44051802 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	104	18
GTF3C1	2975	broad.mit.edu	37	16	27473805	27473805	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27473805T>C	ENST00000356183.4	-	36	5942	c.5927A>G	c.(5926-5928)gAc>gGc	p.D1976G	GTF3C1_ENST00000561623.1_Missense_Mutation_p.D1951G	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1976						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						ACTCTCACAGTCCCTGCAGGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	39	47			NA	NA	16		NA											NA				27473805		2197	4300	6497	SO:0001583	missense			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235	2975	2975		General transcription factors	4664	protein-coding gene	gene with protein product		603246	general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )		NA	8164661, 8127861	Standard	NM_001520	NM_001520	NA	Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.5927A>G	16.37:g.27473805T>C	ENSP00000348510:p.Asp1976Gly	NA	B2RP21|Q12838|Q6DKN9|Q9Y4W9	37	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	t	5.628	0.300635	0.10678	.	.	ENSG00000077235	ENST00000356183	T	0.24723	1.84	4.38	1.54	0.23209	.	0.378699	0.22030	N	0.065608	T	0.15176	0.0366	L	0.42245	1.32	0.09310	N	1	B;B	0.14438	0.007;0.01	B;B	0.13407	0.004;0.009	T	0.23297	-1.0192	10	0.19590	T	0.45	-13.5801	1.1587	0.01801	0.1567:0.139:0.3214:0.3829	.	1976;1951	Q12789;Q12789-3	TF3C1_HUMAN;.	G	1976	ENSP00000348510:D1976G	ENSP00000348510:D1976G	D	-	2	0	GTF3C1	27381306	0.957000	0.32711	0.044000	0.18714	0.126000	0.20510	0.834000	0.27518	0.062000	0.16340	-0.663000	0.03849	GAC	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000433856.1		-	ENST00000356183.4	Missense_Mutation	SNP	16 : 27473805 - 27473805 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	181	22
KCNA4	3739	broad.mit.edu	37	11	30033579	30033579	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30033579C>T	ENST00000328224.6	-	2	1880	c.647G>A	c.(646-648)cGc>cAc	p.R216H		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	216						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						ATACTCATTGCGCAAAGGGTC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	65	67			NA	NA	11		NA											NA				30033579		1862	4106	5968	SO:0001583	missense			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255	3739	3739		Potassium channels, Voltage-gated ion channels / Potassium channels	6222	protein-coding gene	gene with protein product		176266	potassium voltage-gated channel, shaker-related subfamily, member 4-like	KCNA4L	NA	2263489, 16382104	Standard	NM_002233	NM_002233	NA	Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.647G>A	11.37:g.30033579C>T	ENSP00000328511:p.Arg216His	NA		37	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410513	0.83340	.	.	ENSG00000182255	ENST00000328224	T	0.77358	-1.09	4.94	4.94	0.65067	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.84297	0.5441	M	0.84156	2.68	0.80722	D	1	D	0.69078	0.997	P	0.49332	0.607	D	0.87784	0.2614	10	0.72032	D	0.01	.	18.1944	0.89817	0.0:1.0:0.0:0.0	.	216	P22459	KCNA4_HUMAN	H	216	ENSP00000328511:R216H	ENSP00000328511:R216H	R	-	2	0	KCNA4	29990155	1.000000	0.71417	0.981000	0.43875	0.887000	0.51463	7.787000	0.85759	2.297000	0.77311	0.655000	0.94253	CGC	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388074.2		-	ENST00000328224.6	Missense_Mutation	SNP	11 : 30033579 - 30033579 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	372	73
CDHR1	92211	broad.mit.edu	37	10	85974159	85974159	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85974159C>A	ENST00000372117.3	+	17	2465	c.2362C>A	c.(2362-2364)Ctc>Atc	p.L788I	CDHR1_ENST00000440770.2_Missense_Mutation_p.L492I|CDHR1_ENST00000332904.3_Intron	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	788	Pro-rich.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						AAGCTCTCTGCTCCCGAGAGC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	85	86			NA	NA	10		NA											NA				85974159		2203	4300	6503	SO:0001583	missense			AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600	92211	92211		Cadherins / Cadherin-related	14550	protein-coding gene	gene with protein product		609502	protocadherin 21	PCDH21	NA	11597768	Standard	NM_033100	NM_001171971	NA	Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.2362C>A	10.37:g.85974159C>A	ENSP00000361189:p.Leu788Ile	NA	Q69YZ8|Q8IXY5	37	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127601	0.37533	.	.	ENSG00000148600	ENST00000372117;ENST00000440770	T;T	0.56275	0.63;0.47	5.49	3.6	0.41247	.	0.193736	0.56097	D	0.000028	T	0.32224	0.0822	N	0.14661	0.345	0.21220	N	0.999757	B;B	0.18610	0.001;0.029	B;B	0.13407	0.0;0.009	T	0.14200	-1.0481	10	0.16896	T	0.51	-21.5171	11.5494	0.50713	0.1411:0.7231:0.1357:0.0	.	492;788	E7EN47;Q96JP9	.;CDHR1_HUMAN	I	788;492	ENSP00000361189:L788I;ENSP00000415980:L492I	ENSP00000361189:L788I	L	+	1	0	CDHR1	85964139	0.501000	0.26099	0.518000	0.27811	0.416000	0.31233	2.253000	0.43205	0.653000	0.30826	0.591000	0.81541	CTC	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049111.1		+	ENST00000372117.3	Missense_Mutation	SNP	10 : 85974159 - 85974159 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	895	93
KIRREL3	84623	broad.mit.edu	37	11	126316668	126316668	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126316668G>A	ENST00000525144.2	-	9	1360	c.1111C>T	c.(1111-1113)Cgg>Tgg	p.R371W	KIRREL3_ENST00000525704.2_Missense_Mutation_p.R371W|KIRREL3_ENST00000529097.2_Missense_Mutation_p.R371W	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	371	Ig-like C2-type 4.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CCGGAGCCCCGCTTCATCCAG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	30	29			NA	NA	11		NA											NA				126316668		2011	4171	6182	SO:0001583	missense			AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571	84623	84623		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	23204	protein-coding gene	gene with protein product		607761			NA	12424224, 11347906	Standard	NM_032531	NM_032531	NA	Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1111C>T	11.37:g.126316668G>A	ENSP00000435466:p.Arg371Trp	NA	Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	37	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733469	0.48939	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000525704	T;T;T	0.28069	1.63;1.63;1.63	4.77	3.84	0.44239	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.51787	0.1695	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.993	T	0.55101	-0.8193	10	0.87932	D	0	.	13.6927	0.62556	0.0:0.0:0.844:0.156	.	371;371;371	Q8IZU9-2;E9PRX9;Q8IZU9	.;.;KIRR3_HUMAN	W	371	ENSP00000435466:R371W;ENSP00000434081:R371W;ENSP00000435094:R371W	ENSP00000435466:R371W	R	-	1	2	KIRREL3	125821878	0.993000	0.37304	1.000000	0.80357	0.403000	0.30841	2.427000	0.44740	0.949000	0.37715	0.297000	0.19635	CGG	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386479.2		-	ENST00000525144.2	Missense_Mutation	SNP	11 : 126316668 - 126316668 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	55	9
PCDHB14	56122	broad.mit.edu	37	5	140603244	140603244	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140603244T>C	ENST00000239449.4	+	1	167	c.167T>C	c.(166-168)gTg>gCg	p.V56A	PCDHB14_ENST00000515856.2_Intron	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	56	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCTGGGGGTGGAGGAGCTG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(141;50 1831 27899 33809 37648)							NA				0													86	89	88			NA	NA	5		NA											NA				140603244		2203	4300	6503	SO:0001583	missense			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327	56122	56122		Cadherins / Protocadherins : Clustered	8685	other	protocadherin		606340			NA	10380929	Standard	NM_018934	NM_018934	NA	Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.167T>C	5.37:g.140603244T>C	ENSP00000239449:p.Val56Ala	NA	Q4FZA4|Q4KN11	37	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	10.03	1.237733	0.22711	.	.	ENSG00000120327	ENST00000239449	T	0.29655	1.56	4.93	4.93	0.64822	Cadherin, N-terminal (1);Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.29491	0.0735	M	0.64170	1.965	0.80722	D	1	B	0.10296	0.003	B	0.18263	0.021	T	0.07809	-1.0753	9	0.20046	T	0.44	.	10.1776	0.42948	0.0:0.0814:0.0:0.9186	.	56	Q9Y5E9	PCDBE_HUMAN	A	56	ENSP00000239449:V56A	ENSP00000239449:V56A	V	+	2	0	PCDHB14	140583428	0.042000	0.20092	0.216000	0.23742	0.715000	0.41141	1.765000	0.38481	1.974000	0.57490	0.533000	0.62120	GTG	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251814.2		+	ENST00000239449.4	Missense_Mutation	SNP	5 : 140603244 - 140603244 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	74
HERC1	8925	broad.mit.edu	37	15	63967220	63967220	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63967220C>T	ENST00000443617.2	-	38	7254	c.7167G>A	c.(7165-7167)acG>acA	p.T2389T		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2389					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCACAGAAGCCGTCAGGCCTC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	113	115			NA	NA	15		NA											NA				63967220		2036	4195	6231	SO:0001819	synonymous_variant			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657	8925	8925		WD repeat domain containing	4867	protein-coding gene	gene with protein product		605109	hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1		NA	8861955, 9233772	Standard	NM_003922	NM_003922	NA	Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.7167G>A	15.37:g.63967220C>T		NA	Q8IW65	37	CCDS45277.1																																																																																			HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418523.1		-	ENST00000443617.2	Silent	SNP	15 : 63967220 - 63967220 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	621	115
SYNE1	23345	broad.mit.edu	37	6	152676008	152676008	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152676008G>A	ENST00000367255.5	-	67	11313	c.10712C>T	c.(10711-10713)gCt>gTt	p.A3571V	SYNE1_ENST00000423061.1_Missense_Mutation_p.A3578V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A3542V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A3578V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A3571V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3571					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGACTCTAAAGCCCGGTCCTC	0.547		NA								HNSCC(10;0.0054)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	134	132			NA	NA	6		NA											NA				152676008		2203	4300	6503	SO:0001583	missense			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018	23345	23345			17089	protein-coding gene	gene with protein product	myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1	608441	chromosome 6 open reading frame 98	C6orf98	NA	9872452, 10878022	Standard	NM_182961	NM_182961	NA	Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.10712C>T	6.37:g.152676008G>A	ENSP00000356224:p.Ala3571Val	NA	O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	10.96	1.500083	0.26861	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.50813	0.73;1.37;0.73;1.37;0.73	5.21	-0.531	0.11894	.	0.649919	0.13988	N	0.349005	T	0.07728	0.0194	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.09022	0.001;0.001;0.001;0.002	B;B;B;B	0.09377	0.004;0.004;0.004;0.004	T	0.40040	-0.9584	10	0.25106	T	0.35	.	9.6035	0.39619	0.5823:0.0:0.4177:0.0	.	3571;3571;3571;3578	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	V	3571;3578;3571;3578;3542	ENSP00000356224:A3571V;ENSP00000396024:A3578V;ENSP00000265368:A3571V;ENSP00000390975:A3578V;ENSP00000341887:A3542V	ENSP00000265368:A3571V	A	-	2	0	SYNE1	152717701	0.000000	0.05858	0.066000	0.19879	0.993000	0.82548	0.116000	0.15561	0.018000	0.15052	0.555000	0.69702	GCT	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334755.2		-	ENST00000367255.5	Missense_Mutation	SNP	6 : 152676008 - 152676008 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	953	169
AQP12B	653437	broad.mit.edu	37	2	241622183	241622183	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241622183G>T	ENST00000407834.3	-	1	134	c.72C>A	c.(70-72)gcC>gcA	p.A24A		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	24						integral to membrane	transporter activity	p.A24A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GGGCCTTGGAGGCCCGCCTGG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	endometrium(1)											37	44	41			NA	NA	2		NA											NA				241622183		2188	4288	6476	SO:0001819	synonymous_variant			BC041460	CCDS46560.1	2q37.3	2007-12-14	2005-05-26	2005-05-26	ENSG00000185176	ENSG00000185176	653437	653437		Ion channels / Aquaporins	6096	protein-coding gene	gene with protein product			insulin synthesis associated 3	INSSA3	NA		Standard		NM_001102467	NA	Approved		uc010fzj.3	A6NM10	OTTHUMG00000152263	ENST00000407834.3:c.72C>A	2.37:g.241622183G>T		NA	A4QPB9	37	CCDS46560.1																																																																																			AQP12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325625.1		-	ENST00000407834.3	Silent	SNP	2 : 241622183 - 241622183 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	420	17
JAK3	3718	broad.mit.edu	37	19	17937570	17937570	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17937570G>A	ENST00000527670.1	-	23	3386	c.3357C>T	c.(3355-3357)caC>caT	p.H1119H	JAK3_ENST00000458235.1_Silent_p.H1119H			P52333	JAK3_HUMAN	Janus kinase 3	1119					B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						AGGACAGGGAGTGGTGTTTGC	0.617		2	Mis		acute megakaryocytic leukemia, ETP ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0													179	149	159			NA	NA	19		NA											NA				17937570		2203	4300	6503	SO:0001819	synonymous_variant			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	3718	3718	2.7.10.1		6193	protein-coding gene	gene with protein product	tyrosine-protein kinase JAK3, leukocyte Janus kinase	600173			NA	8921370, 9226382	Standard	NM_000215	NM_000215	NA	Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.3357C>T	19.37:g.17937570G>A		NA	Q13259|Q13260|Q13611|Q99699|Q9Y6S2	37	CCDS12366.1																																																																																			JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385549.1		-	ENST00000527670.1	Silent	SNP	19 : 17937570 - 17937570 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	805	160
CNN3	1266	broad.mit.edu	37	1	95369040	95369040	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:95369040C>T	ENST00000370206.4	-	2	481	c.98G>A	c.(97-99)cGc>cAc	p.R33H	CNN3_ENST00000394202.4_Missense_Mutation_p.R33H|CNN3_ENST00000538964.1_Missense_Mutation_p.R33H|CNN3_ENST00000545882.1_5'UTR	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	33	CH.				actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		TATCCAATTGCGAAGATCTTC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	105	108			NA	NA	1		NA											NA				95369040		2203	4300	6503	SO:0001583	missense			BC025372	CCDS30775.1, CCDS65592.1, CCDS65593.1	1p22-p21	2010-07-08			ENSG00000117519	ENSG00000117519	1266	1266			2157	protein-coding gene	gene with protein product		602374			NA	8526917	Standard	NM_001839	NM_001839	NA	Approved		uc001dqz.4	Q15417	OTTHUMG00000010783	ENST00000370206.4:c.98G>A	1.37:g.95369040C>T	ENSP00000359225:p.Arg33His	NA		37	CCDS30775.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302712	0.81136	.	.	ENSG00000117519	ENST00000370206;ENST00000538964;ENST00000394202	D;D;D	0.95137	-3.62;-3.62;-3.62	5.85	5.85	0.93711	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97570	0.9204	M	0.87758	2.905	0.80722	D	1	P;D	0.71674	0.877;0.998	B;D	0.80764	0.302;0.994	D	0.97032	0.9751	10	0.52906	T	0.07	-12.6225	20.1649	0.98147	0.0:1.0:0.0:0.0	.	33;33	F8WA86;Q15417	.;CNN3_HUMAN	H	33	ENSP00000359225:R33H;ENSP00000437665:R33H;ENSP00000377752:R33H	ENSP00000359225:R33H	R	-	2	0	CNN3	95141628	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.811000	0.86092	2.753000	0.94483	0.655000	0.94253	CGC	CNN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029702.2		-	ENST00000370206.4	Missense_Mutation	SNP	1 : 95369040 - 95369040 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	408	84
DOPEY2	9980	broad.mit.edu	37	21	37620829	37620829	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37620829C>T	ENST00000399151.3	+	21	5046	c.4961C>T	c.(4960-4962)aCg>aTg	p.T1654M		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1654					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTAGGGGCCACGAAGGGATCC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	79	82			NA	NA	21		NA											NA				37620829		2203	4300	6503	SO:0001583	missense			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197	9980	9980			1291	protein-coding gene	gene with protein product		604803	chromosome 21 open reading frame 5	C21orf5	NA	16301316, 16303751, 10931277	Standard	NM_005128	NM_005128	NA	Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.4961C>T	21.37:g.37620829C>T	ENSP00000382104:p.Thr1654Met	NA	D3DSG5|Q6PJQ7|Q9UEZ3	37	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	C	3.559	-0.089986	0.07053	.	.	ENSG00000142197	ENST00000399151	T	0.12774	2.65	5.46	3.66	0.41972	.	0.301120	0.41294	N	0.000907	T	0.14184	0.0343	L	0.57536	1.79	0.09310	N	0.999994	B;B	0.22851	0.076;0.046	B;B	0.20577	0.03;0.013	T	0.16453	-1.0402	10	0.49607	T	0.09	-11.577	8.6367	0.33953	0.0:0.769:0.0:0.231	.	1654;1654	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	M	1654	ENSP00000382104:T1654M	ENSP00000382104:T1654M	T	+	2	0	DOPEY2	36542699	0.856000	0.29760	0.029000	0.17559	0.033000	0.12548	1.698000	0.37794	0.697000	0.31718	0.650000	0.86243	ACG	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000194636.1		+	ENST00000399151.3	Missense_Mutation	SNP	21 : 37620829 - 37620829 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	311	70
UACA	55075	broad.mit.edu	37	15	70970515	70970515	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:70970515C>T	ENST00000322954.6	-	11	1107	c.922G>A	c.(922-924)Gag>Aag	p.E308K	UACA_ENST00000379983.2_Missense_Mutation_p.E295K|UACA_ENST00000560441.1_Missense_Mutation_p.E295K|UACA_ENST00000539319.1_Missense_Mutation_p.E199K	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	308						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CTCAACCTCTCTTTCAAATCT	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	93	94			NA	NA	15		NA											NA				70970515		2196	4295	6491	SO:0001583	missense			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831	55075	55075		Ankyrin repeat domain containing	15947	protein-coding gene	gene with protein product		612516			NA	11162650, 10997877	Standard		NM_001008224	NA	Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.922G>A	15.37:g.70970515C>T	ENSP00000314556:p.Glu308Lys	NA	Q14DD3|Q8N3B8|Q9HCL1|Q9NWC6	37	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691807	0.88735	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000395362;ENST00000539319	T;T;T	0.38240	1.15;1.16;1.73	5.31	5.31	0.75309	.	0.270250	0.31922	N	0.006854	T	0.45094	0.1325	M	0.61703	1.905	0.80722	D	1	P;P;P;P	0.41929	0.765;0.653;0.653;0.73	P;B;B;B	0.44359	0.447;0.26;0.26;0.281	T	0.45906	-0.9229	10	0.62326	D	0.03	-17.5848	17.5243	0.87795	0.0:1.0:0.0:0.0	.	199;308;308;295	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	K	308;295;295;199	ENSP00000314556:E308K;ENSP00000369319:E295K;ENSP00000438667:E199K	ENSP00000314556:E308K	E	-	1	0	UACA	68757569	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.912000	0.63335	2.658000	0.90341	0.585000	0.79938	GAG	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257199.2		-	ENST00000322954.6	Missense_Mutation	SNP	15 : 70970515 - 70970515 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	206	33
SCN10A	6336	broad.mit.edu	37	3	38739804	38739804	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38739804G>A	ENST00000449082.2	-	27	4906	c.4907C>T	c.(4906-4908)gCt>gTt	p.A1636V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1636					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GTCGATGCCAGCCTCCCACCT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	165	169			NA	NA	3		NA											NA				38739804		2203	4300	6503	SO:0001583	missense			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313	6336	6336		Sodium channels, Voltage-gated ion channels / Sodium channels	10582	protein-coding gene	gene with protein product		604427	sodium channel, voltage-gated, type X, alpha polypeptide		NA	9839820, 10198179, 16382098	Standard	NM_006514	NM_006514	NA	Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4907C>T	3.37:g.38739804G>A	ENSP00000390600:p.Ala1636Val	NA	A6NDQ1	37	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696607	0.48202	.	.	ENSG00000185313	ENST00000449082	D	0.98437	-4.93	5.27	5.27	0.74061	Ion transport (1);	0.192153	0.42964	D	0.000638	D	0.95689	0.8598	L	0.49640	1.575	0.38361	D	0.944602	P	0.42827	0.791	B	0.40066	0.318	D	0.93623	0.6949	10	0.20519	T	0.43	.	8.7982	0.34892	0.0786:0.0:0.7599:0.1615	.	1636	Q9Y5Y9	SCNAA_HUMAN	V	1636	ENSP00000390600:A1636V	ENSP00000390600:A1636V	A	-	2	0	SCN10A	38714808	0.052000	0.20516	0.985000	0.45067	0.640000	0.38277	0.683000	0.25349	2.742000	0.94016	0.655000	0.94253	GCT	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109745.3		-	ENST00000449082.2	Missense_Mutation	SNP	3 : 38739804 - 38739804 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	834	165
MAPK6	5597	broad.mit.edu	37	15	52338767	52338767	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52338767C>T	ENST00000261845.5	+	2	917	c.110C>T	c.(109-111)gCt>gTt	p.A37V		NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	37	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		GTTTTTTCTGCTGTAGACAAT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	118	118			NA	NA	15		NA											NA				52338767		2195	4293	6488	SO:0001583	missense			L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956	5597	5597		Mitogen-activated protein kinase cascade / Kinases	6879	protein-coding gene	gene with protein product		602904		PRKM6	NA	8875998	Standard	NM_002748	NM_002748	NA	Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.110C>T	15.37:g.52338767C>T	ENSP00000261845:p.Ala37Val	NA	Q68DH4|Q8IYN8	37	CCDS10147.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588654	0.86851	.	.	ENSG00000069956	ENST00000261845	T	0.55413	0.52	5.17	5.17	0.71159	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.64438	0.2598	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.66618	-0.5878	10	0.56958	D	0.05	-17.1548	18.7507	0.91814	0.0:1.0:0.0:0.0	.	37	Q16659	MK06_HUMAN	V	37	ENSP00000261845:A37V	ENSP00000261845:A37V	A	+	2	0	MAPK6	50126059	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.744000	0.85034	2.445000	0.82738	0.650000	0.86243	GCT	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254841.2		+	ENST00000261845.5	Missense_Mutation	SNP	15 : 52338767 - 52338767 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	637	27
ZNF80	7634	broad.mit.edu	37	3	113955909	113955909	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113955909G>A	ENST00000482457.2	-	1	516	c.13C>T	c.(13-15)Cgc>Tgc	p.R5C		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	5						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R5>?(1)		NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				AACCCATCGCGTTTAGGGCTC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(23;986 1114 21716)							NA				1	Complex(1)	large_intestine(1)											88	90	89			NA	NA	3		NA											NA				113955909		2203	4300	6503	SO:0001583	missense			X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255	7634	7634		Zinc fingers, C2H2-type	13155	protein-coding gene	gene with protein product		194553	zinc finger protein 80 (pT17)		NA	8478004	Standard	NM_007136	NM_007136	NA	Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.13C>T	3.37:g.113955909G>A	ENSP00000417192:p.Arg5Cys	NA	Q6NSW4|Q6NT14	37	CCDS2979.1	.	.	.	.	.	.	.	.	.	.	G	4.724	0.134667	0.09032	.	.	ENSG00000174255	ENST00000482457	T	0.22743	1.94	2.44	-1.91	0.07641	.	.	.	.	.	T	0.07593	0.0191	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.40098	-0.9581	9	0.02654	T	1	.	8.0728	0.30699	0.7061:0.0:0.2939:0.0	.	5	P51504	ZNF80_HUMAN	C	5	ENSP00000417192:R5C	ENSP00000309812:R5C	R	-	1	0	ZNF80	115438599	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.760000	0.00786	-0.552000	0.06167	-0.355000	0.07637	CGC	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354696.2		-	ENST00000482457.2	Missense_Mutation	SNP	3 : 113955909 - 113955909 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	559	117
ZNF516	9658	broad.mit.edu	37	18	74153437	74153437	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74153437C>T	ENST00000443185.2	-	3	1891	c.1574G>A	c.(1573-1575)cGc>cAc	p.R525H	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		ATGATAGGTGCGGAAGATCTT	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													8	9	9			NA	NA	18		NA											NA				74153437		2057	4158	6215	SO:0001583	missense			D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493	9658	9658		Zinc fingers, C2H2-type	28990	protein-coding gene	gene with protein product		615114			NA	9039502	Standard	NM_014643	NM_014643	NA	Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.1574G>A	18.37:g.74153437C>T	ENSP00000394757:p.Arg525His	NA		37		.	.	.	.	.	.	.	.	.	.	C	25.5	4.645577	0.87859	.	.	ENSG00000101493	ENST00000443185	T	0.29142	1.58	5.21	4.3	0.51218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.64402	D	0.000001	T	0.58278	0.2111	.	.	.	0.52501	D	0.999959	D	0.89917	1.0	D	0.85130	0.997	T	0.65721	-0.6099	9	0.72032	D	0.01	-61.0823	15.6856	0.77409	0.0:0.8623:0.1376:0.0	.	525	Q92618	ZN516_HUMAN	H	525	ENSP00000394757:R525H	ENSP00000394757:R525H	R	-	2	0	ZNF516	72282425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.082000	0.76851	1.253000	0.44018	0.655000	0.94253	CGC	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding			-	ENST00000443185.2	Missense_Mutation	SNP	18 : 74153437 - 74153437 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	78	10
SOX30	11063	broad.mit.edu	37	5	157065339	157065339	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:157065339C>T	ENST00000265007.6	-	4	2120	c.1779G>A	c.(1777-1779)caG>caA	p.Q593Q	SOX30_ENST00000519442.1_Silent_p.Q288Q|SOX30_ENST00000311371.5_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	593	Pro-rich.				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGGAGGGGGCTGGTAGACAT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(31;525 799 19355 21125 41744)							NA				0													71	70	70			NA	NA	5		NA											NA				157065339		2203	4300	6503	SO:0001819	synonymous_variant			AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600	11063	11063		SRY (sex determining region Y)-boxes	30635	protein-coding gene	gene with protein product		606698			NA	15019997, 11678506	Standard	NM_007017	NM_178424	NA	Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.1779G>A	5.37:g.157065339C>T		NA	O94995|Q8IYX6	37	CCDS4339.1																																																																																			SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252571.2		-	ENST00000265007.6	Silent	SNP	5 : 157065339 - 157065339 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	261	36
ALDH1B1	219	broad.mit.edu	37	9	38396312	38396312	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:38396312G>A	ENST00000377698.3	+	2	720	c.567G>A	c.(565-567)ttG>ttA	p.L189L		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	189					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	ACTTCCCCTTGGTCATGCAGG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	82	83			NA	NA	9		NA											NA				38396312		2203	4300	6503	SO:0001819	synonymous_variant			M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	219	219	1.2.1.3	Aldehyde dehydrogenases	407	protein-coding gene	gene with protein product		100670		ALDH5	NA	2061311	Standard		NM_000692	NA	Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.567G>A	9.37:g.38396312G>A		NA	B2R8F0|Q8WX76|Q9BV45	37	CCDS6615.1																																																																																			ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052492.1		+	ENST00000377698.3	Silent	SNP	9 : 38396312 - 38396312 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	616	109
ZC3HAV1	56829	broad.mit.edu	37	7	138749734	138749734	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138749734C>T	ENST00000242351.5	-	8	2200	c.1884G>A	c.(1882-1884)cgG>cgA	p.R628R	ZC3HAV1_ENST00000471652.1_Silent_p.R628R|ZC3HAV1_ENST00000464606.1_Silent_p.R750R	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	628	WWE.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TTGAATTTTTCCGTTTGTCTT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	90	90			NA	NA	7		NA											NA				138749734		2203	4300	6503	SO:0001819	synonymous_variant			BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939	56829	56829		Zinc fingers, CCCH-type domain containing, Poly (ADP-ribose) polymerases	23721	protein-coding gene	gene with protein product	zinc finger antiviral protein,  CCCH-type zinc finger antiviral protein	607312			NA	12215647, 12851707	Standard	NM_020119	NM_024625	NA	Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.1884G>A	7.37:g.138749734C>T		NA	A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	37	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	C	2.838	-0.241096	0.05906	.	.	ENSG00000105939	ENST00000460845	.	.	.	4.32	1.45	0.22620	.	.	.	.	.	T	0.24547	0.0595	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23261	-1.0193	4	.	.	.	.	4.121	0.10106	0.1632:0.5872:0.158:0.0916	.	.	.	.	K	193	.	.	E	-	1	0	ZC3HAV1	138400274	0.004000	0.15560	0.001000	0.08648	0.002000	0.02628	0.013000	0.13310	0.189000	0.20188	0.644000	0.83932	GAA	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348915.1		-	ENST00000242351.5	Silent	SNP	7 : 138749734 - 138749734 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	338	63
LRP6	4040	broad.mit.edu	37	12	12334299	12334299	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12334299C>T	ENST00000543091.1	-	6	1084	c.1051G>A	c.(1051-1053)Gac>Aac	p.D351N	LRP6_ENST00000261349.4_Missense_Mutation_p.D351N			O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	351	Beta-propeller 2.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AGAACAATGTCTGTAAAATCT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	124	127			NA	NA	12		NA											NA				12334299		2203	4300	6503	SO:0001583	missense			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018	4040	4040		Low density lipoprotein receptors	6698	protein-coding gene	gene with protein product		603507			NA	9704021	Standard		NM_002336	NA	Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000543091.1:c.1051G>A	12.37:g.12334299C>T	ENSP00000442472:p.Asp351Asn	NA	Q17RZ2	37		.	.	.	.	.	.	.	.	.	.	C	18.42	3.619377	0.66787	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.91068	-2.78;-2.78	5.82	5.82	0.92795	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000005	D	0.93621	0.7963	L	0.55990	1.75	0.80722	D	1	D;P	0.71674	0.998;0.721	D;B	0.66351	0.943;0.32	D	0.90785	0.4682	10	0.22109	T	0.4	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	351;351	F5H7J9;O75581	.;LRP6_HUMAN	N	351	ENSP00000261349:D351N;ENSP00000442472:D351N	ENSP00000261349:D351N	D	-	1	0	LRP6	12225566	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.786000	0.85741	2.752000	0.94435	0.655000	0.94253	GAC	LRP6-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000400140.1		-	ENST00000543091.1	Missense_Mutation	SNP	12 : 12334299 - 12334299 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	543	36
PIK3CD	5293	broad.mit.edu	37	1	9780912	9780912	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9780912C>T	ENST00000377346.4	+	13	1829	c.1634C>T	c.(1633-1635)gCg>gTg	p.A545V	PIK3CD_ENST00000361110.2_Missense_Mutation_p.A569V|PIK3CD_ENST00000536656.1_Missense_Mutation_p.A569V|PIK3CD_ENST00000543390.1_Missense_Mutation_p.A212V	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	545					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		TTCCCGGAGGCGCTAGCCCGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	45	44			NA	NA	1		NA											NA				9780912		2202	4298	6500	SO:0001583	missense				CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	5293	5293	2.7.1.153		8977	protein-coding gene	gene with protein product	phosphatidylinositol 3-kinase, catalytic, delta polypeptide, phosphoinositide-3-kinase C	602839	phosphoinositide-3-kinase, catalytic, delta polypeptide		NA	9113989, 9455486	Standard	NM_005026	NM_005026	NA	Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.1634C>T	1.37:g.9780912C>T	ENSP00000366563:p.Ala545Val	NA	A6NCG0|O15445|Q5SR49	37	CCDS104.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.515702	0.27123	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563;ENST00000543390	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.43	4.52	0.55395	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.237329	0.42172	D	0.000748	T	0.68063	0.2960	M	0.71206	2.165	0.32002	N	0.603162	B;P;P	0.43885	0.069;0.82;0.683	B;B;B	0.43082	0.045;0.336;0.407	T	0.75572	-0.3271	10	0.41790	T	0.15	-16.7881	14.1326	0.65266	0.0:0.927:0.0:0.073	.	544;569;545	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	V	569;545;569;569;212	ENSP00000446444:A569V;ENSP00000366563:A545V;ENSP00000354410:A569V;ENSP00000443811:A212V	ENSP00000353766:A569V	A	+	2	0	PIK3CD	9703499	1.000000	0.71417	0.929000	0.37066	0.008000	0.06430	3.927000	0.56499	1.299000	0.44798	0.505000	0.49811	GCG	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000004235.1		+	ENST00000377346.4	Missense_Mutation	SNP	1 : 9780912 - 9780912 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	97	14
SEC14L5	9717	broad.mit.edu	37	16	5041991	5041991	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:5041991T>C	ENST00000251170.7	+	6	807	c.627T>C	c.(625-627)cgT>cgC	p.R209R		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	209						integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						ACGGGCCCCGTAGCACCCTGG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	12	12			NA	NA	16		NA											NA				5041991		1904	4094	5998	SO:0001819	synonymous_variant			AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184	9717	9717			29032	protein-coding gene	gene with protein product					NA	9455477	Standard		NM_014692	NA	Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.627T>C	16.37:g.5041991T>C		NA		37	CCDS45403.1																																																																																			SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434379.1		+	ENST00000251170.7	Silent	SNP	16 : 5041991 - 5041991 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	65	15
LIFR	3977	broad.mit.edu	37	5	38493825	38493825	+	Missense_Mutation	SNP	C	C	T	rs143621762	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38493825C>T	ENST00000263409.4	-	14	2110	c.1948G>A	c.(1948-1950)Gac>Aac	p.D650N	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.D650N	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	650	Fibronectin type-III 5.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ATGTTGGGGTCGTAATGCCAG	0.438		NA	T	PLAG1	salivary adenoma								C	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	4e-04	0.95	LOWCOV,EXOME	NA	NA	4e-04	SNP	Melanoma(13;4 730 6426 9861 34751)		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0													167	146	153			NA	NA	5		NA											NA				38493825		2203	4300	6503	SO:0001583	missense			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594	3977	3977		CD molecules, Fibronectin type III domain containing	6597	protein-coding gene	gene with protein product		151443	leukemia inhibitory factor receptor		NA	1915266	Standard	NM_002310	NM_001127671	NA	Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.1948G>A	5.37:g.38493825C>T	ENSP00000263409:p.Asp650Asn	NA	Q6LCD9	37	CCDS3927.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.98	1.799137	0.31777	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.52983	0.64;0.64	5.68	1.86	0.25419	Long hematopoietin receptor, Gp130 family 2, conserved site (1);Fibronectin, type III (1);	0.469433	0.26203	N	0.025724	T	0.28466	0.0704	N	0.25426	0.745	0.09310	N	0.999994	B	0.17268	0.021	B	0.06405	0.002	T	0.11743	-1.0575	10	0.32370	T	0.25	-12.488	5.6181	0.17442	0.1376:0.5722:0.0:0.2902	.	650	P42702	LIFR_HUMAN	N	650	ENSP00000263409:D650N;ENSP00000398368:D650N	ENSP00000263409:D650N	D	-	1	0	LIFR	38529582	0.247000	0.23920	0.254000	0.24359	0.947000	0.59692	0.542000	0.23222	0.410000	0.25675	0.591000	0.81541	GAC	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253823.1		-	ENST00000263409.4	Missense_Mutation	SNP	5 : 38493825 - 38493825 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	606	119
SETX	23064	broad.mit.edu	37	9	135203494	135203494	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135203494C>T	ENST00000224140.5	-	10	3673	c.3491G>A	c.(3490-3492)cGa>cAa	p.R1164Q	SETX_ENST00000393220.1_Missense_Mutation_p.R1164Q|SETX_ENST00000372169.2_Missense_Mutation_p.R1164Q	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1164					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TTTTTCAGATCGTTTTCTCTT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	GLN/ARG	0,4406		0,0,2203	80	78	79		3491	0.5	0.1	9		79	1,8599	1.2+/-3.3	0,1,4299	no	missense	SETX	NM_015046.5	43	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign	1164/2678	135203494	1,13005	2203	4300	6503	SO:0001583	missense			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290	23064	23064			445	protein-coding gene	gene with protein product		608465	amyotrophic lateral sclerosis 4, spinocerebellar ataxia, recessive, non-Friedreich type 1	ALS4, SCAR1	NA	9497266, 11022012	Standard	NM_015046	NM_015046	NA	Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.3491G>A	9.37:g.135203494C>T	ENSP00000224140:p.Arg1164Gln	NA	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	37	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.477901	0.26511	0.0	1.16E-4	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.86164	-1.98;-2.08;-1.69	5.9	0.463	0.16700	.	2.512000	0.01833	N	0.034818	T	0.75591	0.3870	N	0.19112	0.55	0.21355	N	0.999712	B;B;B	0.24132	0.098;0.033;0.098	B;B;B	0.12837	0.008;0.003;0.008	T	0.60167	-0.7316	10	0.30078	T	0.28	.	1.5037	0.02482	0.1165:0.3087:0.2136:0.3612	.	1164;1164;1164	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	Q	1164	ENSP00000224140:R1164Q;ENSP00000361242:R1164Q;ENSP00000376913:R1164Q	ENSP00000224140:R1164Q	R	-	2	0	SETX	134193315	0.009000	0.17119	0.148000	0.22405	0.702000	0.40608	0.000000	0.12993	0.070000	0.16634	0.650000	0.86243	CGA	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054774.3		-	ENST00000224140.5	Missense_Mutation	SNP	9 : 135203494 - 135203494 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	488	91
DDX47	51202	broad.mit.edu	37	12	12974954	12974954	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12974954A>C	ENST00000358007.3	+	5	520	c.498A>C	c.(496-498)agA>agC	p.R166S	DDX47_ENST00000352940.4_Missense_Mutation_p.R166S	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	166	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TCAACTTGAGAGCTCTCAAAT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	88	90			NA	NA	12		NA											NA				12974954		2203	4300	6503	SO:0001583	missense			AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782	51202	51202		DEAD-boxes	18682	protein-coding gene	gene with protein product		615428			NA		Standard	NM_016355	NM_016355	NA	Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.498A>C	12.37:g.12974954A>C	ENSP00000350698:p.Arg166Ser	NA	B3KXP4|Q96GM0|Q96NV8	37	CCDS8655.1	.	.	.	.	.	.	.	.	.	.	A	16.74	3.205868	0.58234	.	.	ENSG00000213782	ENST00000352940;ENST00000358007;ENST00000544400	T;T;T	0.12672	2.66;2.66;2.66	5.95	5.95	0.96441	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.08133	0.0203	N	0.04162	-0.26	0.58432	D	0.999999	B;B;B	0.27559	0.004;0.003;0.181	B;B;B	0.36335	0.02;0.012;0.222	T	0.12400	-1.0549	10	0.02654	T	1	-22.6156	16.4323	0.83853	1.0:0.0:0.0:0.0	.	166;166;166	Q9H4E3;G5E955;Q9H0S4	.;.;DDX47_HUMAN	S	166;166;103	ENSP00000319578:R166S;ENSP00000350698:R166S;ENSP00000444000:R103S	ENSP00000319578:R166S	R	+	3	2	DDX47	12866221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.358000	0.59442	2.281000	0.76405	0.528000	0.53228	AGA	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400674.1		+	ENST00000358007.3	Missense_Mutation	SNP	12 : 12974954 - 12974954 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	357	54
SERPINA5	5104	broad.mit.edu	37	14	95056472	95056472	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95056472C>T	ENST00000554866.1	+	3	828	c.714C>T	c.(712-714)cgC>cgT	p.R238R	SERPINA5_ENST00000553780.1_Silent_p.R238R|SERPINA5_ENST00000554276.1_Silent_p.R238R|SERPINA5_ENST00000329597.7_Silent_p.R238R			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	238					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TGATGAGCCGCGAGGATCAGT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	86	78	81		714	-9.4	0	14		81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SERPINA5	NM_000624.4		0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077		238/407	95056472	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488	5104	5104		Serine (or cysteine) peptidase inhibitors	8723	protein-coding gene	gene with protein product		601841	serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	PLANH3, PCI	NA	1714450, 8381582, 24172014	Standard	NM_000624	NM_000624	NA	Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.714C>T	14.37:g.95056472C>T		NA	Q07616|Q9UG30	37	CCDS9928.1																																																																																			SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410726.1		+	ENST00000554866.1	Silent	SNP	14 : 95056472 - 95056472 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	251	44
SBF2	81846	broad.mit.edu	37	11	10051375	10051375	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10051375G>A	ENST00000256190.8	-	5	587	c.450C>T	c.(448-450)gtC>gtT	p.V150V	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	150	DENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TTTCCAAGGAGACATTCAGGC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													205	205	205			NA	NA	11		NA											NA				10051375		2201	4294	6495	SO:0001819	synonymous_variant			AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812	81846	81846		Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins, DENN/MADD domain containing, Pleckstrin homology (PH) domain containing	2135	protein-coding gene	gene with protein product	myotubularin related 13	607697	Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding), DENN/MADD domain containing 7B	CMT4B2	NA	10644431	Standard	NM_030962	NM_030962	NA	Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.450C>T	11.37:g.10051375G>A		NA	Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	37	CCDS31427.1																																																																																			SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386911.2		-	ENST00000256190.8	Silent	SNP	11 : 10051375 - 10051375 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1252	263
SBNO1	55206	broad.mit.edu	37	12	123814975	123814975	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123814975C>T	ENST00000602750.1	-	9	1264	c.1122G>A	c.(1120-1122)tcG>tcA	p.S374S	SBNO1_ENST00000420886.2_Silent_p.S375S|SBNO1_ENST00000267176.4_Silent_p.S374S|SBNO1_ENST00000602398.1_Silent_p.S375S			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	375							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CCTTATTTAACGAATGAACCA	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	72	72			NA	NA	12		NA											NA				123814975		2198	4300	6498	SO:0001819	synonymous_variant			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697	55206	55206			22973	protein-coding gene	gene with protein product		614274	sno, strawberry notch homolog 1 (Drosophila)		NA		Standard	NM_018183	NM_018183	NA	Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602750.1:c.1122G>A	12.37:g.123814975C>T		NA	Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	37	CCDS9246.1																																																																																			SBNO1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000467683.1		-	ENST00000602750.1	Silent	SNP	12 : 123814975 - 123814975 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	126	12
SPEN	23013	broad.mit.edu	37	1	16258456	16258456	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16258456C>A	ENST00000375759.3	+	11	5925	c.5721C>A	c.(5719-5721)gtC>gtA	p.V1907V		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1907					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TAAGGAGCGTCTATGCAACCA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	78	77			NA	NA	1		NA											NA				16258456		2203	4300	6503	SO:0001819	synonymous_variant				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526	23013	23013		RNA binding motif (RRM) containing	17575	protein-coding gene	gene with protein product		613484	SPEN homolog, transcriptional regulator (Drosophila), spen homolog, transcriptional regulator (Drosophila)		NA	10451362, 11331609	Standard	NM_015001	NM_015001	NA	Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.5721C>A	1.37:g.16258456C>A		NA	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	37	CCDS164.1																																																																																			SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025993.1		+	ENST00000375759.3	Silent	SNP	1 : 16258456 - 16258456 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	487	43
STEAP2	261729	broad.mit.edu	37	7	89861731	89861731	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:89861731G>A	ENST00000394632.1	+	5	1354				STEAP2_ENST00000394626.1_Silent_p.E422E|STEAP2_ENST00000394621.2_Silent_p.E422E|STEAP2_ENST00000287908.3_Silent_p.E422E|STEAP2_ENST00000402625.2_Intron|STEAP2_ENST00000394622.2_Silent_p.E422E|STEAP2_ENST00000394629.2_Silent_p.E422E	NM_001244946.1	NP_001231875.1	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	NA					electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TTGAGGAAGAGTACTACAGAT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	120	122			NA	NA	7		NA											NA				89861731		2203	4300	6503	SO:0001627	intron_variant			AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214	261729	261729			17885	protein-coding gene	gene with protein product		605094	prostate cancer associated protein 1, six transmembrane epithelial antigen of the prostate 2	PCANAP1	NA	10613842, 12095985	Standard	NM_152999	NM_001040665	NA	Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000394632.1:c.1185+2381G>A	7.37:g.89861731G>A		NA	A4D1F1|Q6UXN6|Q8IUE7	37	CCDS59064.1																																																																																			STEAP2-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000139683.1		+	ENST00000394632.1	Intron	SNP	7 : 89861731 - 89861731 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	180	11
XPO6	23214	broad.mit.edu	37	16	28167624	28167624	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28167624C>T	ENST00000304658.5	-	7	1368	c.868G>A	c.(868-870)Gcg>Acg	p.A290T	XPO6_ENST00000561488.1_5'UTR|XPO6_ENST00000565698.1_Missense_Mutation_p.A276T	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	290					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TTAACTGACGCCATCTTTCTG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	72	71			NA	NA	16		NA											NA				28167624		2004	4164	6168	SO:0001583	missense			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180	23214	23214		Exportins	19733	protein-coding gene	gene with protein product		608411	RAN binding protein 20	RANBP20	NA	14592989	Standard	XM_055195	NM_001270940	NA	Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.868G>A	16.37:g.28167624C>T	ENSP00000302790:p.Ala290Thr	NA	A1L3W4|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	37	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471401	0.43942	.	.	ENSG00000169180	ENST00000304658	T	0.47177	0.85	5.87	5.87	0.94306	Armadillo-type fold (1);	0.149306	0.64402	D	0.000008	T	0.29716	0.0742	N	0.08118	0	0.46981	D	0.999273	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.12243	-1.0555	10	0.15066	T	0.55	-10.5702	18.0718	0.89410	0.0:1.0:0.0:0.0	.	290;290	B7ZM10;Q96QU8	.;XPO6_HUMAN	T	290	ENSP00000302790:A290T	ENSP00000302790:A290T	A	-	1	0	XPO6	28075125	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	2.049000	0.41288	2.941000	0.99782	0.655000	0.94253	GCG	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000433732.1		-	ENST00000304658.5	Missense_Mutation	SNP	16 : 28167624 - 28167624 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	496	108
PSG9	5678	broad.mit.edu	37	19	43763286	43763286	+	Splice_Site	SNP	C	C	T	rs4028446		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43763286C>T	ENST00000418820.2	-	3	530	c.432G>A	c.(430-432)tcG>tcA	p.S144S	PSG9_ENST00000270077.3_Splice_Site_p.P237P|PSG9_ENST00000443718.3_Splice_Site_p.S144S|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000291752.5_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	144	Ig-like V-type.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TGGGCAGCTTCGCTGTGTGGA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001630	splice_region_variant			M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668	5678	5678		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	9526	protein-coding gene	gene with protein product		176398		PSG11	NA	7806221	Standard	NM_002784	XM_005259076	NA	Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000418820.2:c.431-1G>A	19.37:g.43763286C>T		NA	B2R869|Q15236|Q15237|Q8WW78|Q9UQ73	37		.	.	.	.	.	.	.	.	.	.	N	0.170	-1.072691	0.01918	.	.	ENSG00000183668	ENST00000418820	.	.	.	1.39	-2.77	0.05877	.	.	.	.	.	T	0.18800	0.0451	.	.	.	0.20196	N	0.999921	.	.	.	.	.	.	T	0.25398	-1.0133	4	.	.	.	.	2.0306	0.03528	0.2555:0.3247:0.0:0.4198	rs4028446	.	.	.	Q	131	.	.	R	-	2	0	PSG9	48455126	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-1.242000	0.02908	-0.656000	0.05380	-1.031000	0.02408	CGA	PSG9-011	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000463916.1	Silent	-	ENST00000418820.2	Splice_Site	SNP	19 : 43763286 - 43763286 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1342	240
KIAA1958	158405	broad.mit.edu	37	9	115421772	115421772	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115421772C>T	ENST00000337530.6	+	4	1870	c.1574C>T	c.(1573-1575)gCg>gTg	p.A525V	KIAA1958_ENST00000536272.1_Missense_Mutation_p.A553V	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	525										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						ATGTCGGGCGCGCGTTCTCGC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	51	54			NA	NA	9		NA											NA				115421772		2203	4300	6503	SO:0001583	missense			AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185	158405	158405			23427	protein-coding gene	gene with protein product					NA		Standard	NM_133465	NM_001287038	NA	Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.1574C>T	9.37:g.115421772C>T	ENSP00000336940:p.Ala525Val	NA	Q2M336|Q5T252|Q8TF43|Q96N02	37	CCDS35108.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601652	0.46423	.	.	ENSG00000165185	ENST00000337530;ENST00000536272	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	T	0.20536	0.0494	N	0.08118	0	0.26310	N	0.977833	P;P	0.44006	0.824;0.53	B;B	0.33121	0.158;0.048	T	0.13176	-1.0519	8	0.27785	T	0.31	.	19.3641	0.94454	0.0:1.0:0.0:0.0	.	553;525	B7ZKW6;Q8N8K9	.;K1958_HUMAN	V	525;553	.	ENSP00000336940:A525V	A	+	2	0	KIAA1958	114461593	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	2.033000	0.41136	2.676000	0.91093	0.655000	0.94253	GCG	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053690.1		+	ENST00000337530.6	Missense_Mutation	SNP	9 : 115421772 - 115421772 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	141	20
IFT140	9742	broad.mit.edu	37	16	1573949	1573949	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1573949G>A	ENST00000361339.5	-	7	1230	c.732C>T	c.(730-732)ggC>ggT	p.G244G	IFT140_ENST00000426508.2_Silent_p.G1050G			Q96RY7	IF140_HUMAN	intraflagellar transport 140	1050										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GGTCGTCCAGGCCGTTCTCCT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	48	50			NA	NA	16		NA											NA				1573949		2199	4300	6499	SO:0001819	synonymous_variant			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535	9742	9742		Intraflagellar transport homologs, WD repeat domain containing	29077	protein-coding gene	gene with protein product		614620	WD and tetratricopeptide repeats 2, intraflagellar transport 140 homolog (Chlamydomonas)	WDTC2	NA	9628581	Standard	NM_014714	NM_014714	NA	Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000361339.5:c.732C>T	16.37:g.1573949G>A		NA	A2A2A8|D3DU75|O60332	37																																																																																				IFT140-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000432772.1		-	ENST00000361339.5	Silent	SNP	16 : 1573949 - 1573949 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	256	56
SMARCD1	6602	broad.mit.edu	37	12	50483666	50483666	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50483666G>T	ENST00000394963.4	+	7	1169		c.e7-1		SMARCD1_ENST00000381513.4_Splice_Site|SMARCD1_ENST00000548573.1_Splice_Site	NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1	NA					chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						CCTCTCTGTAGTGGCACAGGA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	105	108			NA	NA	12		NA											NA				50483666		2203	4300	6503	SO:0001630	splice_region_variant			U66617	CCDS8797.2, CCDS8798.2	12q13-q14	2008-08-05			ENSG00000066117	ENSG00000066117	6602	6602			11106	protein-coding gene	gene with protein product		601735			NA	8804307, 9693044, 12917342	Standard	NM_003076	NM_003076	NA	Approved	BAF60A, Rsc6p, CRACD1	uc001rvx.4	Q96GM5	OTTHUMG00000150194	ENST00000394963.4:c.772-1G>T	12.37:g.50483666G>T		NA	A6NN27|Q92924|Q9Y635	37	CCDS8797.2	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530681	0.85706	.	.	ENSG00000066117	ENST00000394963;ENST00000381513;ENST00000551966;ENST00000550477;ENST00000542914;ENST00000548573	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5787	0.95455	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMARCD1	48769933	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.941000	0.99782	0.655000	0.94253	.	SMARCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316759.2	Intron	+	ENST00000394963.4	Splice_Site	SNP	12 : 50483666 - 50483666 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	70
ASCC3	10973	broad.mit.edu	37	6	101215160	101215160	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:101215160T>C	ENST00000369162.2	-	9	1801	c.1457A>G	c.(1456-1458)gAg>gGg	p.E486G	ASCC3_ENST00000522650.1_Missense_Mutation_p.E486G	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	486	Helicase ATP-binding 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GTAGGCAGTCTCAAACACTAT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	162	167			NA	NA	6		NA											NA				101215160		2203	4300	6503	SO:0001583	missense			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249	10973	10973			18697	protein-coding gene	gene with protein product	RNA helicase family	614217	helicase, ATP binding 1	HELIC1	NA	10218103	Standard	NM_006828	NM_006828	NA	Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.1457A>G	6.37:g.101215160T>C	ENSP00000358159:p.Glu486Gly	NA	O43738|Q5VTN2|Q9H1I9|Q9NTR0	37	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	T	17.78	3.472368	0.63737	.	.	ENSG00000112249	ENST00000369162;ENST00000522650	T;T	0.15952	2.38;2.38	5.25	5.25	0.73442	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.117651	0.56097	D	0.000029	T	0.17023	0.0409	M	0.83603	2.65	0.80722	D	1	B;B	0.33940	0.183;0.433	B;B	0.35353	0.184;0.201	T	0.02257	-1.1187	10	0.52906	T	0.07	.	15.4376	0.75157	0.0:0.0:0.0:1.0	.	486;486	E7EW23;Q8N3C0	.;HELC1_HUMAN	G	486	ENSP00000358159:E486G;ENSP00000430769:E486G	ENSP00000358159:E486G	E	-	2	0	ASCC3	101321881	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.655000	0.83696	2.122000	0.65172	0.482000	0.46254	GAG	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041632.2		-	ENST00000369162.2	Missense_Mutation	SNP	6 : 101215160 - 101215160 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	687	121
IBA57	200205	broad.mit.edu	37	1	228363174	228363174	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228363174C>T	ENST00000366711.3	+	3	1033	c.1031C>T	c.(1030-1032)gCc>gTc	p.A344V	IBA57_ENST00000546123.1_Missense_Mutation_p.A151V|IBA57_ENST00000484749.1_3'UTR	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	344					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						GTGGCCTTAGCCGCATCTGTG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	79	77			NA	NA	1		NA											NA				228363174		2203	4299	6502	SO:0001583	missense			AK022796	CCDS31046.1	1q42.13	2011-03-11	2011-03-11	2011-03-11	ENSG00000181873	ENSG00000181873	200205	200205			27302	protein-coding gene	gene with protein product	iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa	615316	chromosome 1 open reading frame 69	C1orf69	NA		Standard	NM_001010867	NM_001010867	NA	Approved	FLJ12734	uc001hsl.4	Q5T440	OTTHUMG00000039769	ENST00000366711.3:c.1031C>T	1.37:g.228363174C>T	ENSP00000355672:p.Ala344Val	NA		37	CCDS31046.1	.	.	.	.	.	.	.	.	.	.	C	5.257	0.232819	0.09969	.	.	ENSG00000181873	ENST00000366711;ENST00000546123	T;T	0.44482	0.92;0.92	5.29	3.23	0.37069	.	0.565058	0.20093	N	0.099412	T	0.17619	0.0423	N	0.04880	-0.145	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.07481	-1.0770	10	0.29301	T	0.29	-15.7912	3.0063	0.06030	0.2658:0.4689:0.15:0.1153	.	344	Q5T440	CAF17_HUMAN	V	344;151	ENSP00000355672:A344V;ENSP00000437347:A151V	ENSP00000355672:A344V	A	+	2	0	IBA57	226429797	0.000000	0.05858	0.021000	0.16686	0.115000	0.19883	0.293000	0.19029	1.412000	0.46977	0.650000	0.86243	GCC	IBA57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095980.1		+	ENST00000366711.3	Missense_Mutation	SNP	1 : 228363174 - 228363174 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	853	124
SOBP	55084	broad.mit.edu	37	6	107955830	107955830	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107955830C>T	ENST00000317357.5	+	6	2441	c.1782C>T	c.(1780-1782)tcC>tcT	p.S594S		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	594							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CGTCCAAGTCCGCGGACTCGC	0.756		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								A		0,3492		0,0,1746	6	7	6		1782	-0.5	1	6		6	1,7817		0,1,3908	no	coding-synonymous	SOBP	NM_018013.3		0,1,5654	TT,TC,CC	NA	0.0128,0.0,0.0088		594/874	107955830	1,11309	1746	3909	5655	SO:0001819	synonymous_variant			AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320	55084	55084			29256	protein-coding gene	gene with protein product		613667			NA		Standard	NM_018013	NM_018013	NA	Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.1782C>T	6.37:g.107955830C>T		NA	B0QZ12|Q5BJD4|Q8N2B2	37	CCDS43488.1																																																																																			SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041693.2		+	ENST00000317357.5	Silent	SNP	6 : 107955830 - 107955830 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	106	25
OVCA2	124641	broad.mit.edu	37	17	1946353	1946353	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1946353C>A	ENST00000572195.1	+	2	654	c.639C>A	c.(637-639)ccC>ccA	p.P213P	RP11-667K14.4_ENST00000572404.1_RNA|DPH1_ENST00000263083.6_3'UTR	NM_080822.2	NP_543012.1	Q8WZ82	OVCA2_HUMAN	ovarian tumor suppressor candidate 2	213					response to retinoic acid	cytoplasm	hydrolase activity				NA						CAGCTGCACCCCAGCGTCAGG	0.562		NA									OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	78	76			NA	NA	17		NA											NA				1946353		2203	4300	6503	SO:0001819	synonymous_variant			AF321875	CCDS11015.1	17p13.3	2012-10-08			ENSG00000262664	ENSG00000262664	124641	124641			24203	protein-coding gene	gene with protein product	candidate tumor suppressor in ovarian cancer 2	607896			NA	11979432, 8616839, 16368187	Standard	NM_080822	NM_080822	NA	Approved		uc002ftx.3	Q8WZ82	OTTHUMG00000132471	ENST00000572195.1:c.639C>A	17.37:g.1946353C>A		599	Q86XN3|Q8IW87|Q9UCX9	37	CCDS11015.1																																																																																			OVCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255636.5		+	ENST00000572195.1	Silent	SNP	17 : 1946353 - 1946353 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	601	28
CLIC6	54102	broad.mit.edu	37	21	36088748	36088748	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:36088748G>A	ENST00000360731.3	+	7	2083	c.2083G>A	c.(2083-2085)Gca>Aca	p.A695T	CLIC6_ENST00000349499.2_Missense_Mutation_p.A677T			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	695	GST C-terminal.					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						GATTGAACACGCATATTCAGA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	114	115			NA	NA	21		NA											NA				36088748		2203	4300	6503	SO:0001583	missense			AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212	54102	54102		Ion channels / Chloride channels : Intracellular	2065	protein-coding gene	gene with protein product		615321		CLIC1L	NA	10830953	Standard		NM_053277	NA	Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.2083G>A	21.37:g.36088748G>A	ENSP00000353959:p.Ala695Thr	NA	A8K0U8|Q8IX31	37		.	.	.	.	.	.	.	.	.	.	G	22.8	4.339592	0.81911	.	.	ENSG00000159212	ENST00000360731;ENST00000349499	D;D	0.94092	-3.35;-3.35	5.85	5.85	0.93711	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96839	0.8968	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.991;0.996	D	0.96494	0.9366	10	0.59425	D	0.04	-12.539	20.1542	0.98100	0.0:0.0:1.0:0.0	.	695;677	Q96NY7;Q96NY7-2	CLIC6_HUMAN;.	T	695;677	ENSP00000353959:A695T;ENSP00000290332:A677T	ENSP00000290332:A677T	A	+	1	0	CLIC6	35010618	1.000000	0.71417	0.270000	0.24601	0.967000	0.64934	9.835000	0.99442	2.767000	0.95098	0.563000	0.77884	GCA	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000194156.1		+	ENST00000360731.3	Missense_Mutation	SNP	21 : 36088748 - 36088748 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	102
SYT9	143425	broad.mit.edu	37	11	7441783	7441783	+	Missense_Mutation	SNP	G	G	A	rs140525588		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7441783G>A	ENST00000318881.6	+	6	1621	c.1384G>A	c.(1384-1386)Gct>Act	p.A462T		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	462						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		AGGCAACGAGGCTGAGAGGCT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	149	157			NA	NA	11		NA											NA				7441783		2201	4296	6497	SO:0001583	missense			AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743	143425	143425		Synaptotagmins	19265	protein-coding gene	gene with protein product		613528			NA	11543631	Standard	NM_175733	NM_175733	NA	Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.1384G>A	11.37:g.7441783G>A	ENSP00000324419:p.Ala462Thr	NA		37	CCDS7778.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650448	0.87958	.	.	ENSG00000170743	ENST00000318881	T	0.71341	-0.56	5.64	4.72	0.59763	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.56097	D	0.000026	T	0.74222	0.3688	L	0.51853	1.615	0.80722	D	1	P	0.45569	0.861	P	0.51701	0.677	T	0.76130	-0.3072	10	0.59425	D	0.04	.	13.7524	0.62915	0.0:0.0:0.845:0.1549	.	462	Q86SS6	SYT9_HUMAN	T	462	ENSP00000324419:A462T	ENSP00000324419:A462T	A	+	1	0	SYT9	7398359	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.644000	0.74338	1.361000	0.45981	0.655000	0.94253	GCT	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384483.1		+	ENST00000318881.6	Missense_Mutation	SNP	11 : 7441783 - 7441783 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	483	88
KAT2A	2648	broad.mit.edu	37	17	40271425	40271425	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40271425C>A	ENST00000225916.5	-	6	964	c.911G>T	c.(910-912)aGc>aTc	p.S304I		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	304					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GCTATCACAGCTCTGGGGCAC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	87	88			NA	NA	17		NA											NA				40271425		2203	4300	6503	SO:0001583	missense			AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773	2648	2648		Chromatin-modifying enzymes / K-acetyltransferases	4201	protein-coding gene	gene with protein product		602301	GCN5 general control of amino-acid synthesis 5-like 2 (yeast)	GCN5L2	NA	8552087	Standard	NM_021078	NM_021078	NA	Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.911G>T	17.37:g.40271425C>A	ENSP00000225916:p.Ser304Ile	NA	Q8N1A2|Q9UCW1	37	CCDS11417.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.529346	0.44969	.	.	ENSG00000108773	ENST00000225916	T	0.04917	3.53	4.69	3.7	0.42460	PCAF, N-terminal (1);	0.043254	0.85682	D	0.000000	T	0.07999	0.0200	L	0.36672	1.1	0.52501	D	0.999959	B	0.29805	0.257	B	0.36030	0.216	T	0.31280	-0.9949	10	0.33940	T	0.23	-20.4372	14.1904	0.65635	0.1507:0.8493:0.0:0.0	.	304	Q92830	KAT2A_HUMAN	I	304	ENSP00000225916:S304I	ENSP00000225916:S304I	S	-	2	0	KAT2A	37524951	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	3.005000	0.49521	1.175000	0.42826	0.555000	0.69702	AGC	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257458.1		-	ENST00000225916.5	Missense_Mutation	SNP	17 : 40271425 - 40271425 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	665	111
CHRNA9	55584	broad.mit.edu	37	4	40351281	40351281	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40351281C>T	ENST00000310169.2	+	4	887	c.748C>T	c.(748-750)Ctc>Ttc	p.L250F		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	250					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	CCCATGCGTCCTCATATCTTT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(115;1297 1602 22235 25158 43327)							NA				0													336	331	332			NA	NA	4		NA											NA				40351281		2203	4300	6503	SO:0001583	missense			AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343	55584	55584		Cholinergic receptors, Ligand-gated ion channels / Acetylcholine receptors, nicotinic	14079	protein-coding gene	gene with protein product	acetylcholine receptor, nicotinic, alpha 9 (neuronal)	605116	cholinergic receptor, nicotinic, alpha polypeptide 9		NA		Standard		NM_017581	NA	Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.748C>T	4.37:g.40351281C>T	ENSP00000312663:p.Leu250Phe	NA	Q14CY7|Q4W5A2|Q9NYV2	37	CCDS3459.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.425570	0.62733	.	.	ENSG00000174343	ENST00000310169	D	0.91464	-2.85	5.55	5.55	0.83447	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.056571	0.64402	D	0.000001	D	0.93900	0.8048	M	0.76838	2.35	0.54753	D	0.999988	D	0.63046	0.992	D	0.73380	0.98	D	0.92735	0.6203	10	0.40728	T	0.16	.	8.2977	0.31995	0.1566:0.7597:0.0:0.0836	.	250	Q9UGM1	ACHA9_HUMAN	F	250	ENSP00000312663:L250F	ENSP00000312663:L250F	L	+	1	0	CHRNA9	40046038	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.650000	0.46665	2.627000	0.88993	0.561000	0.74099	CTC	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216822.1		+	ENST00000310169.2	Missense_Mutation	SNP	4 : 40351281 - 40351281 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2726	466
DYNC2H1	79659	broad.mit.edu	37	11	103093703	103093703	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103093703C>T	ENST00000375735.2	+	59	9385	c.9241C>T	c.(9241-9243)Cgt>Tgt	p.R3081C	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R3081C	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3081	Stalk (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GAATGCTAAGCGTGCCAGTAC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	87	88			NA	NA	11		NA											NA				103093703		1882	4113	5995	SO:0001583	missense			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240	79659	79659		Cytoplasmic dyneins	2962	protein-coding gene	gene with protein product		603297	dynein, cytoplasmic, heavy polypeptide 2	DNCH2	NA	9763680, 9373155	Standard	XM_370652	NM_001080463	NA	Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.9241C>T	11.37:g.103093703C>T	ENSP00000364887:p.Arg3081Cys	NA	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222317	0.79464	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.74421	-0.84;-0.84	5.92	5.92	0.95590	Dynein heavy chain, coiled coil stalk (1);	0.060551	0.64402	D	0.000004	D	0.88570	0.6472	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90260	0.4300	10	0.87932	D	0	.	13.706	0.62639	0.2692:0.7308:0.0:0.0	.	3081;3081	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	C	3081	ENSP00000364887:R3081C;ENSP00000381167:R3081C	ENSP00000364887:R3081C	R	+	1	0	DYNC2H1	102598913	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.409000	0.52657	2.809000	0.96659	0.655000	0.94253	CGT	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387196.1		+	ENST00000375735.2	Missense_Mutation	SNP	11 : 103093703 - 103093703 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	339	50
MAFG	4097	broad.mit.edu	37	17	79880637	79880637	+	Silent	SNP	G	G	A	rs143241856	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79880637G>A	ENST00000357736.4	-	3	548	c.333C>T	c.(331-333)taC>taT	p.Y111Y	MAFG_ENST00000392366.3_Silent_p.Y111Y	NM_002359.3|NM_032711.3	NP_002350.1|NP_116100.2	O15525	MAFG_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog G	111	Leucine-zipper.				blood coagulation	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|lung(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GCAGCGCCTCGTACTTGGAGC	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	0,4392		0,0,2196	26	19	22		333,333	-2	1	17	dbSNP_134	22	2,8582		0,2,4290	no	coding-synonymous,coding-synonymous	MAFG	NM_002359.3,NM_032711.3	,	0,2,6486	AA,AG,GG	NA	0.0233,0.0,0.0154	,	111/163,111/163	79880637	2,12974	2196	4292	6488	SO:0001819	synonymous_variant			AF059195	CCDS11793.1	17q25.3	2013-07-09	2013-07-09		ENSG00000197063	ENSG00000197063	4097	4097			6781	protein-coding gene	gene with protein product	transcription factor MafG, basic leucine zipper transcription factor MafG	602020			NA	9763667	Standard	NM_002359	NM_002359	NA	Approved	MGC13090, MGC20149	uc002kcm.3	O15525		ENST00000357736.4:c.333C>T	17.37:g.79880637G>A		NA		37	CCDS11793.1																																																																																			MAFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000439980.1		-	ENST00000357736.4	Silent	SNP	17 : 79880637 - 79880637 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	52	11
PTPRM	5797	broad.mit.edu	37	18	8113534	8113534	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8113534C>T	ENST00000332175.8	+	12	2944	c.1907C>T	c.(1906-1908)aCg>aTg	p.T636M	PTPRM_ENST00000444013.1_Missense_Mutation_p.T423M|PTPRM_ENST00000400053.4_Missense_Mutation_p.T574M|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000580170.1_Missense_Mutation_p.T636M|PTPRM_ENST00000400060.4_Missense_Mutation_p.T636M	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	636	Fibronectin type-III 4.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				ACTAAAAAGACGACAGAAATC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	99	100			NA	NA	18		NA											NA				8113534		2203	4300	6503	SO:0001583	missense			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482	5797	5797		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	9675	protein-coding gene	gene with protein product		176888		PTPRL1	NA	1655529, 8404049	Standard		NM_002845	NA	Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.1907C>T	18.37:g.8113534C>T	ENSP00000331418:p.Thr636Met	NA	D3DUH8	37	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138704	0.77775	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.48201	1.14;1.14;0.97;0.82	5.84	5.84	0.93424	Fibronectin, type III (1);	0.158718	0.56097	D	0.000036	T	0.57873	0.2083	L	0.40543	1.245	0.58432	D	0.999999	D;P;P	0.67145	0.996;0.776;0.776	P;B;B	0.57204	0.815;0.34;0.34	T	0.55398	-0.8147	10	0.51188	T	0.08	.	20.1535	0.98095	0.0:1.0:0.0:0.0	.	423;636;636	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	M	636;636;574;423	ENSP00000331418:T636M;ENSP00000382933:T636M;ENSP00000382927:T574M;ENSP00000387608:T423M	ENSP00000331418:T636M	T	+	2	0	PTPRM	8103534	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	7.487000	0.81328	2.764000	0.94973	0.650000	0.86243	ACG	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254456.1		+	ENST00000332175.8	Missense_Mutation	SNP	18 : 8113534 - 8113534 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	376	68
LRRC71	149499	broad.mit.edu	37	1	156897380	156897380	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156897380G>A	ENST00000337428.7	+	7	909	c.755G>A	c.(754-756)cGg>cAg	p.R252Q	LRRC71_ENST00000490146.1_3'UTR	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	252										endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						AGCTGCAACCGGACCCTCGTC	0.652		NA									OREG0013892	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	19	18			NA	NA	1		NA											NA				156897380		2076	4204	6280	SO:0001583	missense			BC033790	CCDS44249.1	1q23.1	2011-02-14	2011-02-14	2011-02-14	ENSG00000160838	ENSG00000160838	149499	149499			26556	protein-coding gene	gene with protein product			chromosome 1 open reading frame 92	C1orf92	NA	14702039	Standard	NM_144702	NM_144702	NA	Approved	FLJ32884	uc001fqm.2	Q8N4P6	OTTHUMG00000041298	ENST00000337428.7:c.755G>A	1.37:g.156897380G>A	ENSP00000336661:p.Arg252Gln	1782	Q96M24	37	CCDS44249.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083880	0.55861	.	.	ENSG00000160838	ENST00000337428	T	0.61980	0.06	4.48	3.53	0.40419	.	0.169451	0.28349	N	0.015667	T	0.14356	0.0347	N	0.03154	-0.405	0.28084	N	0.932077	B;B	0.30584	0.216;0.286	B;B	0.26094	0.066;0.057	T	0.06661	-1.0814	10	0.30078	T	0.28	-18.1532	6.3106	0.21163	0.2335:0.0:0.7665:0.0	.	252;37	Q8N4P6;Q8N4P6-2	LRC71_HUMAN;.	Q	252	ENSP00000336661:R252Q	ENSP00000336661:R252Q	R	+	2	0	LRRC71	155164004	0.997000	0.39634	0.914000	0.36105	0.859000	0.49053	3.162000	0.50755	1.064000	0.40671	0.455000	0.32223	CGG	LRRC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000098961.1		+	ENST00000337428.7	Missense_Mutation	SNP	1 : 156897380 - 156897380 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	119	17
NFATC3	4775	broad.mit.edu	37	16	68156483	68156483	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68156483C>T	ENST00000575270.1	+	2	1035	c.697C>T	c.(697-699)Cac>Tac	p.H233Y	NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000349223.5_Missense_Mutation_p.H233Y|NFATC3_ENST00000346183.3_Missense_Mutation_p.H233Y|NFATC3_ENST00000329524.4_Missense_Mutation_p.H233Y			Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	233	3 X SP repeats.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TGGACTTGGACACTCATTATC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	103	103			NA	NA	16		NA											NA				68156483		2198	4300	6498	SO:0001583	missense			L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736	4775	4775		Nuclear factor of activated T-cells	7777	protein-coding gene	gene with protein product		602698			NA	7749981	Standard	NM_004555	NM_004555	NA	Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000575270.1:c.697C>T	16.37:g.68156483C>T	ENSP00000460533:p.His233Tyr	NA	O75211|Q14516|Q99840|Q99841|Q99842	37		.	.	.	.	.	.	.	.	.	.	C	8.460	0.855006	0.17106	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524	T;T;T	0.08720	3.06;3.06;3.06	5.28	3.28	0.37604	.	0.224215	0.46442	D	0.000294	T	0.08935	0.0221	L	0.46157	1.445	0.49051	D	0.999746	B;P;B;B	0.41313	0.437;0.745;0.437;0.437	B;B;B;B	0.40375	0.075;0.327;0.12;0.12	T	0.23583	-1.0184	9	.	.	.	-0.3688	10.0157	0.42014	0.1474:0.7807:0.0:0.0719	.	233;233;233;233	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	Y	233	ENSP00000264008:H233Y;ENSP00000300659:H233Y;ENSP00000331324:H233Y	.	H	+	1	0	NFATC3	66713984	1.000000	0.71417	0.973000	0.42090	0.986000	0.74619	3.159000	0.50731	0.660000	0.30964	0.563000	0.77884	CAC	NFATC3-023	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000436934.2		+	ENST00000575270.1	Missense_Mutation	SNP	16 : 68156483 - 68156483 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	381	60
POP1	10940	broad.mit.edu	37	8	99142303	99142303	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99142303G>A	ENST00000401707.2	+	5	665	c.584G>A	c.(583-585)aGa>aAa	p.R195K	POP1_ENST00000349693.3_Missense_Mutation_p.R195K	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	195					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			TTTAACCGTAGACAAAAGAAG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	65	66			NA	NA	8		NA											NA				99142303		2203	4300	6503	SO:0001583	missense			D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356	10940	10940			30129	protein-coding gene	gene with protein product	processing of precursors 1	602486			NA	10199568, 8918471	Standard	NM_015029	NM_015029	NA	Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.584G>A	8.37:g.99142303G>A	ENSP00000385787:p.Arg195Lys	NA	A8K5W9|Q15037	37	CCDS6277.1	.	.	.	.	.	.	.	.	.	.	G	36	5.679774	0.96774	.	.	ENSG00000104356	ENST00000401707;ENST00000349693	T;T	0.59502	0.26;0.26	5.81	5.81	0.92471	Ribonuclease P/MRP, subunit POP1 (1);	0.133902	0.46145	D	0.000318	T	0.73931	0.3650	M	0.66297	2.02	0.54753	D	0.999988	D	0.54207	0.965	D	0.66497	0.944	T	0.71768	-0.4493	9	.	.	.	0.8959	17.8794	0.88835	0.0:0.0:1.0:0.0	.	195	Q99575	POP1_HUMAN	K	195	ENSP00000385787:R195K;ENSP00000339529:R195K	.	R	+	2	0	POP1	99211479	1.000000	0.71417	0.848000	0.33437	0.953000	0.61014	9.869000	0.99810	2.746000	0.94184	0.591000	0.81541	AGA	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379470.1		+	ENST00000401707.2	Missense_Mutation	SNP	8 : 99142303 - 99142303 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	364	64
MTF2	22823	broad.mit.edu	37	1	93586135	93586135	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93586135A>C	ENST00000370298.4	+	9	1116	c.827A>C	c.(826-828)aAc>aCc	p.N276T	MTF2_ENST00000370303.4_Missense_Mutation_p.N276T|MTF2_ENST00000545708.1_Missense_Mutation_p.N174T|MTF2_ENST00000471953.1_Intron|MTF2_ENST00000540243.1_Missense_Mutation_p.N174T	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	276						nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		TGCCTTTACAACCTAAGTGTT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	141	140			NA	NA	1		NA											NA				93586135		2203	4300	6503	SO:0001583	missense			AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033	22823	22823		Tudor domain containing, Zinc fingers, PHD-type	29535	protein-coding gene	gene with protein product	polycomb-like 2, tudor domain containing 19A	609882			NA	15563832	Standard	NM_007358	NM_007358	NA	Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.827A>C	1.37:g.93586135A>C	ENSP00000359321:p.Asn276Thr	NA	A6NGQ9|A8K2Q3|B1AKT5|Q9UES9|Q9UP40	37	CCDS742.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.710211	0.89018	.	.	ENSG00000143033	ENST00000545708;ENST00000540243;ENST00000370298;ENST00000537953;ENST00000370303	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.32704	0.0838	M	0.83312	2.635	0.80722	D	1	P;D	0.56968	0.931;0.978	P;P	0.58013	0.766;0.831	T	0.21586	-1.0241	10	0.72032	D	0.01	-5.9945	16.2484	0.82467	1.0:0.0:0.0:0.0	.	276;276	B1AKT6;Q9Y483	.;MTF2_HUMAN	T	174;174;276;174;276	ENSP00000444962:N174T;ENSP00000443295:N174T;ENSP00000359321:N276T;ENSP00000359326:N276T	ENSP00000359321:N276T	N	+	2	0	MTF2	93358723	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.057000	0.93889	2.291000	0.77112	0.533000	0.62120	AAC	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000028075.3		+	ENST00000370298.4	Missense_Mutation	SNP	1 : 93586135 - 93586135 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	281	60
AKAP9	10142	broad.mit.edu	37	7	91660882	91660882	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91660882A>G	ENST00000356239.3	+	16	4535	c.4302A>G	c.(4300-4302)aaA>aaG	p.K1434K	AKAP9_ENST00000358100.2_Silent_p.K1446K|AKAP9_ENST00000359028.2_Silent_p.K1446K	NM_005751.4|NM_147185.2	NP_005742.4|NP_671714.1	Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1446					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.K1434K(1)|p.K1446K(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGCTTGAAAAACAATACCAAG	0.294		NA	T	BRAF	papillary thyroid									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	2	Substitution - coding silent(2)	kidney(2)											128	135	132			NA	NA	7		NA											NA				91660882		2202	4294	6496	SO:0001819	synonymous_variant			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914	10142	10142		A-kinase anchor proteins, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	379	protein-coding gene	gene with protein product	A-kinase anchoring protein 450, AKAP9-BRAF fusion protein, AKAP120-like protein, centrosome- and golgi-localized protein kinase N-associated protein, protein kinase A anchoring protein 9, A-kinase anchor protein, 350kDa, protein phosphatase 1, regulatory subunit 45, yotiao	604001			NA	9482789, 10390370, 24475373	Standard	NM_005751	NM_147185	NA	Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000356239.3:c.4302A>G	7.37:g.91660882A>G		NA	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	37	CCDS5622.1																																																																																			AKAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253808.2		+	ENST00000356239.3	Silent	SNP	7 : 91660882 - 91660882 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	353	64
HSPA9	3313	broad.mit.edu	37	5	137906735	137906735	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137906735C>A	ENST00000297185.3	-	4	449	c.324G>T	c.(322-324)caG>caT	p.Q108H		NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	108					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding	p.Q108Q(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGGTGACAGCCTGTCGCTTGG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											109	99	102			NA	NA	5		NA											NA				137906735		2203	4300	6503	SO:0001583	missense			L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013	3313	3313		Heat shock proteins / HSP70	5244	protein-coding gene	gene with protein product		600548	heat shock 70kDa protein 9B (mortalin-2)	HSPA9B	NA	7684501	Standard	NM_004134	NM_004134	NA	Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.324G>T	5.37:g.137906735C>A	ENSP00000297185:p.Gln108His	NA	B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	37	CCDS4208.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.50|19.50	3.839122|3.839122	0.71373|0.71373	.|.	.|.	ENSG00000113013|ENSG00000113013	ENST00000297185;ENST00000540484;ENST00000504810;ENST00000507886|ENST00000541333	T;T;T|.	0.01203|.	5.18;5.18;5.18|.	5.34|5.34	2.52|2.52	0.30459|0.30459	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87346|0.87346	0.6154|0.6154	H|H	0.98721|0.98721	4.31|4.31	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.993|.	D|D	0.88796|0.88796	0.3281|0.3281	10|6	0.87932|0.72032	D|D	0|0.01	-10.1034|-10.1034	10.3089|10.3089	0.43697|0.43697	0.0:0.7674:0.0:0.2326|0.0:0.7674:0.0:0.2326	.|.	39;108|.	B7Z1V7;P38646|.	.;GRP75_HUMAN|.	H|M	108;94;39;39|78	ENSP00000297185:Q108H;ENSP00000425598:Q39H;ENSP00000423098:Q39H|.	ENSP00000297185:Q108H|ENSP00000438817:R78M	Q|R	-|-	3|2	2|0	HSPA9|HSPA9	137934634|137934634	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	0.649000|0.649000	0.24843|0.24843	0.726000|0.726000	0.32339|0.32339	0.655000|0.655000	0.94253|0.94253	CAG|AGG	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251285.1		-	ENST00000297185.3	Missense_Mutation	SNP	5 : 137906735 - 137906735 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	575	26
TIPRL	261726	broad.mit.edu	37	1	168153250	168153250	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:168153250C>T	ENST00000367833.2	+	2	360	c.215C>T	c.(214-216)gCg>gTg	p.A72V	TIPRL_ENST00000367830.3_Missense_Mutation_p.A72V	NM_152902.3	NP_690866.1	O75663	TIPRL_HUMAN	TOR signaling pathway regulator	72					DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding	p.A72V(1)		breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					GCTACAGATGCGTTAAGATGT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											129	117	121			NA	NA	1		NA											NA				168153250		2203	4300	6503	SO:0001583	missense			AB097034	CCDS1270.1, CCDS30935.1	1q23.2	2014-03-07	2014-03-07		ENSG00000143155	ENSG00000143155	261726	261726			30231	protein-coding gene	gene with protein product		611807	TIP41, TOR signaling pathway regulator-like (S. cerevisiae)		NA	12761501	Standard	NM_152902	NM_001031800	NA	Approved	MGC3794, dJ69E11.3, TIP41	uc001gfg.3	O75663	OTTHUMG00000034646	ENST00000367833.2:c.215C>T	1.37:g.168153250C>T	ENSP00000356807:p.Ala72Val	NA	B2R8V3|Q5HYB2|Q8IZ86	37	CCDS1270.1	.	.	.	.	.	.	.	.	.	.	C	30	5.052861	0.93793	.	.	ENSG00000143155	ENST00000367833;ENST00000367830	.	.	.	5.7	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.82774	0.5110	M	0.92459	3.31	0.44207	D	0.997032	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	D	0.87080	0.2165	8	0.54805	T	0.06	-24.9428	16.2331	0.82357	0.0:0.8666:0.1334:0.0	.	72;72	O75663;O75663-2	TIPRL_HUMAN;.	V	72	.	ENSP00000356804:A72V	A	+	2	0	TIPRL	166419874	1.000000	0.71417	0.873000	0.34254	0.964000	0.63967	7.380000	0.79704	1.369000	0.46134	0.655000	0.94253	GCG	TIPRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083822.1		+	ENST00000367833.2	Missense_Mutation	SNP	1 : 168153250 - 168153250 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	418	72
KRTAP12-2	353323	broad.mit.edu	37	21	46086509	46086509	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46086509A>T	ENST00000360770.3	-	1	335	c.295T>A	c.(295-297)Tcc>Acc	p.S99T	TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2	99	23 X 5 AA approximate repeats.					keratin filament				central_nervous_system(1)|endometrium(1)|lung(3)	5						GACTGGCAGGAGGGGGCTGCA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	71	67			NA	NA	21		NA											NA				46086509		2175	4258	6433	SO:0001583	missense			AJ566389	CCDS42965.1	21q22.3	2006-03-13			ENSG00000221864	ENSG00000221864	353323	353323		Keratin associated proteins	20530	protein-coding gene	gene with protein product					NA		Standard	NM_181684	NM_181684	NA	Approved	KRTAP12.2, KAP12.2	uc002zfu.3	P59991	OTTHUMG00000057636	ENST00000360770.3:c.295T>A	21.37:g.46086509A>T	ENSP00000354001:p.Ser99Thr	NA	A6NIS1|A6NMS9|Q0VAS4	37	CCDS42965.1	.	.	.	.	.	.	.	.	.	.	a	5.296	0.239909	0.10023	.	.	ENSG00000221864	ENST00000360770;ENST00000539483	T	0.03468	3.92	3.47	-0.556	0.11803	.	.	.	.	.	T	0.09291	0.0229	M	0.84082	2.675	0.09310	N	1	P	0.51791	0.948	P	0.51918	0.684	T	0.15464	-1.0436	9	0.51188	T	0.08	.	3.0355	0.06121	0.4538:0.0:0.3497:0.1965	.	99	P59991	KR122_HUMAN	T	99;49	ENSP00000354001:S99T	ENSP00000354001:S99T	S	-	1	0	KRTAP12-2	44910937	0.976000	0.34144	0.010000	0.14722	0.388000	0.30384	0.038000	0.13862	0.009000	0.14813	0.379000	0.24179	TCC	KRTAP12-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128039.1		-	ENST00000360770.3	Missense_Mutation	SNP	21 : 46086509 - 46086509 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	364	36
RBM42	79171	broad.mit.edu	37	19	36128403	36128403	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36128403C>A	ENST00000262633.4	+	10	1495	c.1390C>A	c.(1390-1392)Ctg>Atg	p.L464M	RBM42_ENST00000589559.1_Missense_Mutation_p.L370M|RBM42_ENST00000586618.1_Missense_Mutation_p.L168M|RBM42_ENST00000592202.1_Missense_Mutation_p.L410M|RBM42_ENST00000360475.4_Missense_Mutation_p.L435M|RBM42_ENST00000588161.1_Missense_Mutation_p.L434M|RBM42_ENST00000589871.1_Missense_Mutation_p.L442M	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	464	Necessary for interaction with HNRNPK (By similarity).					cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGACCGGAATCTGGACGTGGT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	109	109			NA	NA	19		NA											NA				36128403		2203	4300	6503	SO:0001583	missense			BC004204	CCDS12468.1	19q13.12	2013-02-12				ENSG00000126254	79171	79171		RNA binding motif (RRM) containing	28117	protein-coding gene	gene with protein product		613232			NA	12477932	Standard	NM_024321	NM_024321	NA	Approved	MGC10433	uc002oan.3	Q9BTD8		ENST00000262633.4:c.1390C>A	19.37:g.36128403C>A	ENSP00000262633:p.Leu464Met	NA	O00320|Q8N5R7|Q9BU66	37	CCDS12468.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.262941	0.39995	.	.	ENSG00000126254	ENST00000262633;ENST00000360475	T;T	0.06528	3.29;3.34	6.07	5.04	0.67666	.	0.171732	0.48767	D	0.000162	T	0.06872	0.0175	L	0.28014	0.82	0.47341	D	0.999399	P;B;P;B	0.44659	0.56;0.22;0.84;0.141	B;B;P;B	0.48304	0.437;0.101;0.573;0.047	T	0.30179	-0.9987	10	0.31617	T	0.26	-10.995	7.2472	0.26129	0.1696:0.7478:0.0:0.0826	.	430;435;434;464	Q9BTD8-4;Q9BTD8-3;Q9BTD8-2;Q9BTD8	.;.;.;RBM42_HUMAN	M	464;435	ENSP00000262633:L464M;ENSP00000353663:L435M	ENSP00000262633:L464M	L	+	1	2	RBM42	40820243	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.934000	0.40163	2.885000	0.99019	0.655000	0.94253	CTG	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459057.2		+	ENST00000262633.4	Missense_Mutation	SNP	19 : 36128403 - 36128403 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	336	49
HAL	3034	broad.mit.edu	37	12	96386496	96386496	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:96386496G>A	ENST00000538703.1	-	9	1024	c.677C>T	c.(676-678)tCc>tTc	p.S226F	HAL_ENST00000541929.1_Missense_Mutation_p.S18F|HAL_ENST00000261208.3_Missense_Mutation_p.S226F	NM_001258334.1	NP_001245263.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	226					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	GGTCTCCAGGGAAATGCCACT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(169;943 2815 23563 30031)							NA				0													178	146	157			NA	NA	12		NA											NA				96386496		2203	4300	6503	SO:0001583	missense				CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	3034	3034	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS	NA		Standard		NM_002108	NA	Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000538703.1:c.677C>T	12.37:g.96386496G>A	ENSP00000440861:p.Ser226Phe	NA	Q4VB92|Q4VB93	37	CCDS58265.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637203	0.87760	.	.	ENSG00000084110	ENST00000261208;ENST00000541929;ENST00000538703;ENST00000552509;ENST00000546579	T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21	4.79	4.79	0.61399	L-Aspartase-like (1);L-Aspartase-like, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91216	0.7232	M	0.93150	3.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.991;0.996	D	0.93769	0.7073	10	0.87932	D	0	-14.7048	17.8357	0.88696	0.0:0.0:1.0:0.0	.	226;226	F5GXF2;P42357	.;HUTH_HUMAN	F	226;18;226;214;136	ENSP00000261208:S226F;ENSP00000446364:S18F;ENSP00000440861:S226F;ENSP00000450372:S214F;ENSP00000447543:S136F	ENSP00000261208:S226F	S	-	2	0	HAL	94910627	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.357000	0.97099	2.198000	0.70561	0.561000	0.74099	TCC	HAL-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408647.1		-	ENST00000538703.1	Missense_Mutation	SNP	12 : 96386496 - 96386496 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	626	130
WNT3A	89780	broad.mit.edu	37	1	228246984	228246984	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228246984C>T	ENST00000284523.1	+	4	955	c.877C>T	c.(877-879)Cgc>Tgc	p.R293C	WNT3A_ENST00000366753.2_Missense_Mutation_p.R293C	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	293					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CTTCGGCACGCGCGACCGCAC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	13	13			NA	NA	1		NA											NA				228246984		2196	4295	6491	SO:0001583	missense			AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342	89780	89780		Wingless-type MMTV integration sites, Endogenous ligands	15983	protein-coding gene	gene with protein product		606359			NA	11414706	Standard	NM_033131	NM_033131	NA	Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.877C>T	1.37:g.228246984C>T	ENSP00000284523:p.Arg293Cys	NA	Q3SY80|Q969P2	37	CCDS1564.1	.	.	.	.	.	.	.	.	.	.	C	33	5.216473	0.95104	.	.	ENSG00000154342	ENST00000284523;ENST00000366753	T;T	0.76839	-1.05;-1.05	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.89608	0.6764	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.67725	0.932;0.953	D	0.90820	0.4708	10	0.45353	T	0.12	.	17.9461	0.89039	0.0:1.0:0.0:0.0	.	293;293	P56704;Q3SY79	WNT3A_HUMAN;.	C	293	ENSP00000284523:R293C;ENSP00000355715:R293C	ENSP00000284523:R293C	R	+	1	0	WNT3A	226313607	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	4.783000	0.62403	2.300000	0.77407	0.491000	0.48974	CGC	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091648.1		+	ENST00000284523.1	Missense_Mutation	SNP	1 : 228246984 - 228246984 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	83	21
ATP4A	495	broad.mit.edu	37	19	36050049	36050049	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36050049G>A	ENST00000262623.3	-	8	1129	c.1101C>T	c.(1099-1101)tgC>tgT	p.C367C		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	367					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	p.C367C(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TCTTGACCACGCAGTTCTTAC	0.617		NA												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)											185	171	175			NA	NA	19		NA											NA				36050049		2203	4300	6503	SO:0001819	synonymous_variant				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	495	495	3.6.3.10	ATPases / P-type	819	protein-coding gene	gene with protein product	gastric H,K-ATPase alpha subunit, H(+)-K(+)-ATPase alpha subunit, proton pump	137216			NA	1330887	Standard	NM_000704	NM_000704	NA	Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.1101C>T	19.37:g.36050049G>A		NA	O00738	37	CCDS12467.1																																																																																			ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109470.2		-	ENST00000262623.3	Silent	SNP	19 : 36050049 - 36050049 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1170	194
PRKCI	5584	broad.mit.edu	37	3	170002313	170002313	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170002313G>A	ENST00000295797.4	+	12	1437	c.1132G>A	c.(1132-1134)Gat>Aat	p.D378N		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	378	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AATTTATAGAGATTTGAAACT	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	61	61			NA	NA	3		NA											NA				170002313		2203	4299	6502	SO:0001583	missense				CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	5584	5584	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E	NA	7607695, 11978974	Standard	NM_002740	NM_002740	NA	Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.1132G>A	3.37:g.170002313G>A	ENSP00000295797:p.Asp378Asn	NA	D3DNQ4|Q8WW06	37	CCDS3212.2	.	.	.	.	.	.	.	.	.	.	G	33	5.260702	0.95368	.	.	ENSG00000163558	ENST00000295797	D	0.92965	-3.14	5.34	5.34	0.76211	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96809	0.8958	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96915	0.9670	9	.	.	.	.	19.4109	0.94671	0.0:0.0:1.0:0.0	.	378	P41743	KPCI_HUMAN	N	378	ENSP00000295797:D378N	.	D	+	1	0	PRKCI	171485007	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.368000	0.97152	2.642000	0.89623	0.650000	0.86243	GAT	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316866.3		+	ENST00000295797.4	Missense_Mutation	SNP	3 : 170002313 - 170002313 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	305	17
NUP205	23165	broad.mit.edu	37	7	135292055	135292055	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135292055C>T	ENST00000285968.6	+	22	3157	c.3131C>T	c.(3130-3132)aCg>aTg	p.T1044M		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1044					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GAGAAAGGAACGGAAGGGAGA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	94	96			NA	NA	7		NA											NA				135292055		2203	4300	6503	SO:0001583	missense			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561	23165	23165			18658	protein-coding gene	gene with protein product		614352	chromosome 7 open reading frame 14	C7orf14	NA	9039502, 9348540	Standard		NM_015135	NA	Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.3131C>T	7.37:g.135292055C>T	ENSP00000285968:p.Thr1044Met	NA	A6H8X3|Q86YC1	37	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966911	0.74131	.	.	ENSG00000155561	ENST00000285968	T	0.29917	1.55	5.15	5.15	0.70609	.	0.047461	0.85682	D	0.000000	T	0.40423	0.1116	L	0.34521	1.04	0.80722	D	1	D	0.65815	0.995	P	0.55545	0.778	T	0.14337	-1.0476	10	0.46703	T	0.11	-10.5056	18.9876	0.92779	0.0:1.0:0.0:0.0	.	1044	Q92621	NU205_HUMAN	M	1044	ENSP00000285968:T1044M	ENSP00000285968:T1044M	T	+	2	0	NUP205	134942595	0.999000	0.42202	0.784000	0.31847	0.898000	0.52572	3.793000	0.55484	2.550000	0.86006	0.561000	0.74099	ACG	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340358.1		+	ENST00000285968.6	Missense_Mutation	SNP	7 : 135292055 - 135292055 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	399	37
ATP8B3	148229	broad.mit.edu	37	19	1796824	1796824	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1796824C>T	ENST00000310127.6	-	16	1877	c.1639G>A	c.(1639-1641)Gcg>Acg	p.A547T	ATP8B3_ENST00000525591.1_Missense_Mutation_p.A500T|ATP8B3_ENST00000539485.1_Missense_Mutation_p.A547T	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	547					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCAGGGCCGCATTGTGGAAG	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	36	34			NA	NA	19		NA											NA				1796824		2069	4177	6246	SO:0001583	missense			AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270	148229	148229		ATPases / P-type	13535	protein-coding gene	gene with protein product	aminophospholipid translocase ATP8B3, potential phospholipid-transporting ATPase IK	605866	ATPase, Class I, type 8B, member 3, ATPase, class I, type 8B, member 3		NA	11015572	Standard	NM_138813	NM_138813	NA	Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.1639G>A	19.37:g.1796824C>T	ENSP00000311336:p.Ala547Thr	NA	Q8IVB8|Q8N4Y8|Q96M22	37	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.273873	0.23221	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.64085	-0.08;-0.08;-0.08	3.63	-7.26	0.01466	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	1.801560	0.03175	U	0.171296	T	0.40398	0.1115	L	0.39692	1.235	0.09310	N	1	P;B	0.39352	0.669;0.27	B;B	0.34931	0.192;0.192	T	0.45323	-0.9269	10	0.17832	T	0.49	.	0.5644	0.00684	0.3518:0.1859:0.2576:0.2047	.	547;500	O60423;Q7Z485	AT8B3_HUMAN;.	T	547;547;500	ENSP00000311336:A547T;ENSP00000443574:A547T;ENSP00000437115:A500T	ENSP00000311336:A547T	A	-	1	0	ATP8B3	1747824	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.078000	0.00299	-2.174000	0.00772	-0.258000	0.10820	GCG	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388279.1		-	ENST00000310127.6	Missense_Mutation	SNP	19 : 1796824 - 1796824 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	213	42
RYR3	6263	broad.mit.edu	37	15	33988633	33988633	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33988633C>A	ENST00000389232.4	+	39	6145	c.6075C>A	c.(6073-6075)cgC>cgA	p.R2025R	RYR3_ENST00000415757.3_Silent_p.R2025R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2025	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCCAAATCCGCTCCCTCCTCA	0.577		NA											C	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	EXOME	NA	NA	2e-04	SNP								NA				0													84	90	88			NA	NA	15		NA											NA				33988633		2118	4241	6359	SO:0001819	synonymous_variant				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838	6263	6263		Ion channels / Ryanodine receptors, EF-hand domain containing	10485	protein-coding gene	gene with protein product		180903			NA	8276408	Standard		NM_001036	NA	Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6075C>A	15.37:g.33988633C>A		NA	O15175|Q15412	37	CCDS45210.1																																																																																			RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417514.1		+	ENST00000389232.4	Silent	SNP	15 : 33988633 - 33988633 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	301	49
HTT	3064	broad.mit.edu	37	4	3240630	3240630	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3240630C>T	ENST00000355072.5	+	66	9285	c.9140C>T	c.(9139-9141)gCc>gTc	p.A3047V		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	3047					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACGCAGAGGGCCCCGGTCGCC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	31	29			NA	NA	4		NA											NA				3240630		2122	4213	6335	SO:0001583	missense			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386	3064	3064		Endogenous ligands	4851	protein-coding gene	gene with protein product		613004	huntingtin (Huntington disease)	HD	NA	8458085	Standard	NM_002111	NM_002111	NA	Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.9140C>T	4.37:g.3240630C>T	ENSP00000347184:p.Ala3047Val	NA	Q9UQB7	37	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340021	0.60963	.	.	ENSG00000197386	ENST00000355072	T	0.68025	-0.3	5.13	2.22	0.28083	.	0.286284	0.38548	N	0.001646	T	0.46639	0.1403	N	0.08118	0	0.19575	N	0.999967	B	0.18013	0.025	B	0.21151	0.033	T	0.38714	-0.9648	10	0.40728	T	0.16	.	15.0088	0.71533	0.0:0.594:0.406:0.0	.	3047	P42858	HD_HUMAN	V	3047	ENSP00000347184:A3047V	ENSP00000347184:A3047V	A	+	2	0	HTT	3210428	0.999000	0.42202	0.018000	0.16275	0.696000	0.40369	4.057000	0.57455	0.523000	0.28482	0.557000	0.71058	GCC	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358234.2		+	ENST00000355072.5	Missense_Mutation	SNP	4 : 3240630 - 3240630 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	140	34
SYMPK	8189	broad.mit.edu	37	19	46319807	46319807	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46319807G>A	ENST00000245934.7	-	25	3531	c.3287C>T	c.(3286-3288)aCc>aTc	p.T1096I	SYMPK_ENST00000598155.1_5'UTR	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1096					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CTCCAAGATGGTCATGATGGA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	41	40			NA	NA	19		NA											NA				46319807		2203	4300	6503	SO:0001583	missense			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755	8189	8189			22935	protein-coding gene	gene with protein product		602388			NA	9330635	Standard	NM_004819	NM_004819	NA	Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.3287C>T	19.37:g.46319807G>A	ENSP00000245934:p.Thr1096Ile	NA	O00521|O00689|O00733|Q59GT5|Q8N2U5	37	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655826	0.47467	.	.	ENSG00000125755	ENST00000245934	.	.	.	4.4	4.4	0.53042	.	0.469052	0.22944	N	0.053758	T	0.40979	0.1139	N	0.14661	0.345	0.39075	D	0.960784	B	0.02656	0.0	B	0.10450	0.005	T	0.42865	-0.9426	9	0.66056	D	0.02	.	12.387	0.55338	0.0:0.0:1.0:0.0	.	1096	Q92797	SYMPK_HUMAN	I	1096	.	ENSP00000245934:T1096I	T	-	2	0	SYMPK	51011647	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.164000	0.58190	2.287000	0.76781	0.555000	0.69702	ACC	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316581.1		-	ENST00000245934.7	Missense_Mutation	SNP	19 : 46319807 - 46319807 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	47
PPP2R3A	5523	broad.mit.edu	37	3	135721855	135721855	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:135721855C>A	ENST00000264977.3	+	2	2132	c.1515C>A	c.(1513-1515)agC>agA	p.S505R	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	505					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATTCCAGTAGCCAGGAAGAGA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	55	53			NA	NA	3		NA											NA				135721855		2199	4294	6493	SO:0001583	missense			L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	5523	5523	3.1.3.16	Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits, EF-hand domain containing	9307	protein-coding gene	gene with protein product		604944	protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform, protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha	PPP2R3	NA	8392071	Standard	NM_002718	NM_002718	NA	Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.1515C>A	3.37:g.135721855C>A	ENSP00000264977:p.Ser505Arg	NA	A8KAE7|B7ZAE3|Q06189|Q9NPQ5	37	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	C	1.569	-0.534559	0.04082	.	.	ENSG00000073711	ENST00000264977	T	0.05513	3.43	5.29	1.53	0.23141	.	0.437967	0.27627	N	0.018532	T	0.05090	0.0136	L	0.36672	1.1	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.37596	-0.9699	10	0.35671	T	0.21	.	7.1396	0.25548	0.0:0.4198:0.0:0.5802	.	505	Q06190	P2R3A_HUMAN	R	505	ENSP00000264977:S505R	ENSP00000264977:S505R	S	+	3	2	PPP2R3A	137204545	1.000000	0.71417	0.992000	0.48379	0.335000	0.28730	0.642000	0.24735	0.373000	0.24621	0.563000	0.77884	AGC	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357232.1		+	ENST00000264977.3	Missense_Mutation	SNP	3 : 135721855 - 135721855 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	423	77
IDI1	3422	broad.mit.edu	37	10	1088604	1088604	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1088604G>A	ENST00000381344.3	-	4	671	c.505C>T	c.(505-507)Ctg>Ttg	p.L169L	IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000420381.1_RNA	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	112	Nudix hydrolase.				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		TCAGCTTTCAGCCGTCTCTGT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	92	96			NA	NA	10		NA											NA				1088604		2203	4300	6503	SO:0001819	synonymous_variant			BC006999	CCDS7056.1	10p15.3	2003-11-12	2005-07-25		ENSG00000067064	ENSG00000067064	3422	3422	5.3.3.2		5387	protein-coding gene	gene with protein product	IPP isomerase	604055	isopentenyl-diphosphate delta isomerase		NA	8020941	Standard	NM_004508	NM_004508	NA	Approved		uc001iga.3	Q13907	OTTHUMG00000017536	ENST00000381344.3:c.505C>T	10.37:g.1088604G>A		NA	B4E155|Q32Q13|Q53GQ6|Q86U81|Q8WUX8|Q96IZ4|Q9BQ74	37	CCDS7056.1																																																																																			IDI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046409.2		-	ENST00000381344.3	Silent	SNP	10 : 1088604 - 1088604 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	314	65
CNOT6L	246175	broad.mit.edu	37	4	78650176	78650176	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78650176G>A	ENST00000504123.1	-	10	1214	c.1084C>T	c.(1084-1086)Cat>Tat	p.H362Y	CNOT6L_ENST00000264903.4_Missense_Mutation_p.H362Y			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	362					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						GGGTCCCAATGCATGTGGGCA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	105	107			NA	NA	4		NA											NA				78650176		1858	4089	5947	SO:0001583	missense			AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767	246175	246175			18042	protein-coding gene	gene with protein product					NA		Standard		NM_144571	NA	Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1084C>T	4.37:g.78650176G>A	ENSP00000424896:p.His362Tyr	NA	Q9UF92	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.042181|4.042181	0.75732|0.75732	.|.	.|.	ENSG00000138767|ENSG00000138767	ENST00000515506|ENST00000504123;ENST00000264903;ENST00000512485;ENST00000505983	.|T;T;T;T	.|0.80566	.|-1.39;-1.39;-1.39;-1.39	5.73|5.73	5.73|5.73	0.89815|0.89815	.|Endonuclease/exonuclease/phosphatase (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87297|0.87297	0.6142|0.6142	L|L	0.48935|0.48935	1.535|1.535	0.80722|0.80722	D|D	1|1	.|D;P	.|0.89917	.|1.0;0.565	.|D;P	.|0.87578	.|0.998;0.77	D|D	0.85435|0.85435	0.1151|0.1151	5|10	.|0.39692	.|T	.|0.17	-4.3727|-4.3727	19.8926|19.8926	0.96935|0.96935	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|335;362	.|Q96LI5-2;Q96LI5	.|.;CNO6L_HUMAN	V|Y	390|362;362;369;137	.|ENSP00000424896:H362Y;ENSP00000264903:H362Y;ENSP00000425571:H369Y;ENSP00000426320:H137Y	.|ENSP00000264903:H362Y	A|H	-|-	2|1	0|0	CNOT6L|CNOT6L	78869200|78869200	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.869000|9.869000	0.99810|0.99810	2.709000|2.709000	0.92574|0.92574	0.563000|0.563000	0.77884|0.77884	GCA|CAT	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000362515.1		-	ENST00000504123.1	Missense_Mutation	SNP	4 : 78650176 - 78650176 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	511	95
KANK2	25959	broad.mit.edu	37	19	11303796	11303796	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11303796C>T	ENST00000432929.2	-	4	1320	c.960G>A	c.(958-960)ccG>ccA	p.P320P	KANK2_ENST00000586659.1_Silent_p.P320P|KANK2_ENST00000589359.1_Silent_p.P320P|KANK2_ENST00000355150.5_Silent_p.P320P|KANK2_ENST00000589894.1_Silent_p.P320P	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	320										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGCTGTCCGGCGGTGGCCAGG	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													7	9	8			NA	NA	19		NA											NA				11303796		2142	4154	6296	SO:0001819	synonymous_variant			AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256	25959	25959		KN motif and ankyrin repeat domain containing, Ankyrin repeat domain containing	29300	protein-coding gene	gene with protein product		614610	matrix-remodelling associated 3, ankyrin repeat domain 25	MXRA3, ANKRD25	NA	10819331, 17996375, 19554261	Standard	NM_015493	NM_015493	NA	Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000432929.2:c.960G>A	19.37:g.11303796C>T		NA	B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	37	CCDS54219.1																																																																																			KANK2-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453143.1		-	ENST00000432929.2	Silent	SNP	19 : 11303796 - 11303796 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	164	20
DIO3	1735	broad.mit.edu	37	14	102028265	102028265	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102028265C>T	ENST00000510508.4	+	1	578	c.432C>T	c.(430-432)gaC>gaT	p.D144D	DIO3_ENST00000359323.3_Silent_p.D118D			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	118					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				TTCTGCCCGACGGCTTCCAGA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	45	43			NA	NA	14		NA											NA				102028265		2040	4185	6225	SO:0001819	synonymous_variant			S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406	1735	1735			2885	protein-coding gene	gene with protein product		601038		TXDI3	NA	9787088, 7593630	Standard	NM_001362	NM_001362	NA	Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.432C>T	14.37:g.102028265C>T		NA	Q8WVN5	37	CCDS41992.2																																																																																			DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	NA	protein_coding	OTTHUMT00000361712.4		+	ENST00000510508.4	Silent	SNP	14 : 102028265 - 102028265 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	540	102
ACACB	32	broad.mit.edu	37	12	109612034	109612034	+	Splice_Site	SNP	C	C	T	rs148317452		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109612034C>T	ENST00000338432.7	+	7	1334	c.1215C>T	c.(1213-1215)agC>agT	p.S405S	ACACB_ENST00000377854.5_Splice_Site_p.S405S|ACACB_ENST00000377848.3_Splice_Site_p.S405S			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	405	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GGAGTGGAAGCGGTAAGGGAC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	34	28	30		1215	-6.6	0.8	12	dbSNP_134	30	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous-near-splice	ACACB	NM_001093.3		0,1,6501	TT,TC,CC	NA	0.0116,0.0,0.0077		405/2459	109612034	1,13003	2203	4299	6502	SO:0001630	splice_region_variant			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	32	32	6.4.1.2		85	protein-coding gene	gene with protein product	acetyl-CoA carboxylase 2	601557	acetyl-Coenzyme A carboxylase beta		NA	8670171	Standard	NM_001093	NM_001093	NA	Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.1216+1C>T	12.37:g.109612034C>T		NA	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	37	CCDS31898.1																																																																																			ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403077.1	Silent	+	ENST00000338432.7	Splice_Site	SNP	12 : 109612034 - 109612034 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	108	15
ACAN	176	broad.mit.edu	37	15	89400789	89400789	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89400789C>T	ENST00000559004.1	+	12	5031	c.4973C>T	c.(4972-4974)aCt>aTt	p.T1658I	ACAN_ENST00000561243.1_Missense_Mutation_p.T1658I|ACAN_ENST00000352105.7_Missense_Mutation_p.T1658I|ACAN_ENST00000439576.2_Missense_Mutation_p.T1658I			E7EX88	E7EX88_HUMAN	aggrecan	1658					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGATTCCCAACTGTTTCCCTA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	145	144			NA	NA	15		NA											NA				89400789		1953	4132	6085	SO:0001583	missense			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766	176	176		Immunoglobulin superfamily / V-set domain containing, Proteoglycans / Extracellular Matrix : Hyalectans	319	protein-coding gene	gene with protein product	aggrecan proteoglycan	155760	chondroitin sulfate proteoglycan 1, aggrecan 1	MSK16, CSPG1, AGC1	NA	1985970	Standard	NM_001135	NM_013227	NA	Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000559004.1:c.4973C>T	15.37:g.89400789C>T	ENSP00000453499:p.Thr1658Ile	NA		37		.	.	.	.	.	.	.	.	.	.	C	20.2	3.956519	0.73902	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.03607	4.13;3.87	5.86	5.86	0.93980	.	0.000000	0.33553	N	0.004785	T	0.22044	0.0531	M	0.82823	2.61	0.36779	D	0.884243	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.01298	-1.1392	10	0.45353	T	0.12	-19.2149	19.1747	0.93599	0.0:1.0:0.0:0.0	.	1658;1658	E7ENV9;E7EX88	.;.	I	1658;1658;1544	ENSP00000387356:T1658I;ENSP00000341615:T1658I	ENSP00000268134:T1544I	T	+	2	0	ACAN	87201793	0.992000	0.36948	0.973000	0.42090	0.998000	0.95712	3.920000	0.56446	2.775000	0.95449	0.655000	0.94253	ACT	ACAN-008	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000418839.1		+	ENST00000559004.1	Missense_Mutation	SNP	15 : 89400789 - 89400789 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	633	119
BTNL3	10917	broad.mit.edu	37	5	180424301	180424301	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180424301G>T	ENST00000342868.6	+	3	670	c.486G>T	c.(484-486)caG>caT	p.Q162H		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	162	Ig-like V-type.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			GGTTCCCCCAGCCCACAGCCA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	97	101			NA	NA	5		NA											NA				180424301		2149	3950	6099	SO:0001583	missense			AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903	10917	10917		Immunoglobulin superfamily / V-set domain containing, Butyrophilins	1143	protein-coding gene	gene with protein product	butyrophilin-like receptor	606192			NA	10429365	Standard	NM_197975	NM_197975	NA	Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.486G>T	5.37:g.180424301G>T	ENSP00000341787:p.Gln162His	NA	Q496L7|Q9Y2C7	37	CCDS47358.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.160223	0.38119	.	.	ENSG00000168903	ENST00000342868	T	0.41065	1.01	3.9	0.271	0.15640	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39809	0.1092	M	0.68952	2.095	0.09310	N	1	P	0.44578	0.838	B	0.41691	0.364	T	0.28299	-1.0048	9	0.72032	D	0.01	.	7.3458	0.26662	0.4953:0.0:0.5047:0.0	.	162	Q6UXE8	BTNL3_HUMAN	H	162	ENSP00000341787:Q162H	ENSP00000341787:Q162H	Q	+	3	2	BTNL3	180356907	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.115000	0.10741	-0.086000	0.12550	0.531000	0.56144	CAG	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367176.2		+	ENST00000342868.6	Missense_Mutation	SNP	5 : 180424301 - 180424301 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	506	15
MDN1	23195	broad.mit.edu	37	6	90406269	90406269	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90406269T>C	ENST00000369393.3	-	60	9308	c.9193A>G	c.(9193-9195)Ata>Gta	p.I3065V	MDN1_ENST00000428876.1_Missense_Mutation_p.I3065V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3065					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTAGAGAATATGGGTCTATTG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	58	58			NA	NA	6		NA											NA				90406269		2203	4300	6503	SO:0001583	missense			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159	23195	23195			18302	protein-coding gene	gene with protein product					NA	9205841, 12102729	Standard		XM_005248699	NA	Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.9193A>G	6.37:g.90406269T>C	ENSP00000358400:p.Ile3065Val	NA	O15019|Q5T794	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	10.09	1.254333	0.22965	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.01871	4.59;4.59	5.65	-4.13	0.03904	.	1.145840	0.06519	N	0.739389	T	0.00271	0.0008	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47394	-0.9121	10	0.02654	T	1	.	9.2067	0.37293	0.0:0.6208:0.1122:0.267	.	3065	Q9NU22	MDN1_HUMAN	V	3065	ENSP00000358400:I3065V;ENSP00000413970:I3065V	ENSP00000358400:I3065V	I	-	1	0	MDN1	90462990	0.020000	0.18652	0.050000	0.19076	0.927000	0.56198	0.307000	0.19296	-0.669000	0.05289	-0.290000	0.09829	ATA	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041514.2		-	ENST00000369393.3	Missense_Mutation	SNP	6 : 90406269 - 90406269 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	40
ZNF732	654254	broad.mit.edu	37	4	266376	266376	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:266376C>T	ENST00000419098.1	-	4	280	c.270G>A	c.(268-270)ggG>ggA	p.G90G		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						AATCTTCTATCCCCTGCACTG	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	37	40			NA	NA	4		NA											NA				266376		692	1591	2283	SO:0001819	synonymous_variant			AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777	654254	654254		Zinc fingers, C2H2-type, -	37138	protein-coding gene	gene with protein product					NA		Standard	NM_001137608	NM_001137608	NA	Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.270G>A	4.37:g.266376C>T		NA		37	CCDS46990.1																																																																																			ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357937.2		-	ENST00000419098.1	Silent	SNP	4 : 266376 - 266376 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	130	12
FAM65A	79567	broad.mit.edu	37	16	67578667	67578667	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67578667C>T	ENST00000540839.3	+	17	3080	c.2860C>T	c.(2860-2862)Cga>Tga	p.R954*	FAM65A_ENST00000422602.2_Nonsense_Mutation_p.R955*|FAM65A_ENST00000379312.3_Nonsense_Mutation_p.R939*|FAM65A_ENST00000428437.2_Nonsense_Mutation_p.R949*|FAM65A_ENST00000042381.4_Nonsense_Mutation_p.R935*			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	939						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GCGGGAAGCCCGAGTACTGGA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	56	53			NA	NA	16		NA											NA				67578667		2198	4300	6498	SO:0001587	stop_gained			AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523	79567	79567			25836	protein-coding gene	gene with protein product					NA	11572484	Standard	NM_024519	NM_001193522	NA	Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000540839.3:c.2860C>T	16.37:g.67578667C>T	ENSP00000443568:p.Arg954*	NA	Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.616036|7.616036	0.98390|0.98390	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000428437|ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	.|.	.|.	.|.	5.65|5.65	3.66|3.66	0.41972|0.41972	.|.	.|0.283027	.|0.34245	.|N	.|0.004121	T|.	0.35393|.	0.0930|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.33369|.	-0.9871|.	3|.	.|0.02654	.|T	.|1	-1.3622|-1.3622	14.7684|14.7684	0.69657|0.69657	0.2766:0.7234:0.0:0.0|0.2766:0.7234:0.0:0.0	.|.	.|.	.|.	.|.	L|X	928|939;935;955;949	.|.	.|ENSP00000042381:R935X	P|R	+|+	2|1	0|2	FAM65A|FAM65A	66136168|66136168	0.995000|0.995000	0.38212|0.38212	0.652000|0.652000	0.29579|0.29579	0.910000|0.910000	0.53928|0.53928	4.112000|4.112000	0.57845|0.57845	0.700000|0.700000	0.31782|0.31782	0.655000|0.655000	0.94253|0.94253	CCG|CGA	FAM65A-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000268867.2		+	ENST00000540839.3	Nonsense_Mutation	SNP	16 : 67578667 - 67578667 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	686	136
ZC3H18	124245	broad.mit.edu	37	16	88691101	88691101	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88691101G>T	ENST00000301011.5	+	12	2190	c.1990G>T	c.(1990-1992)Gac>Tac	p.D664Y	ZC3H18_ENST00000452588.2_Missense_Mutation_p.D688Y	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	664	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CAAGCCAGGAGACCCTCGGGA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(121;375 2276 20373 38669)							NA				0													37	55	49			NA	NA	16		NA											NA				88691101		2198	4300	6498	SO:0001583	missense			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545	124245	124245		Zinc fingers, CCCH-type domain containing	25091	protein-coding gene	gene with protein product					NA	17579712	Standard	NM_144604	NM_144604	NA	Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1990G>T	16.37:g.88691101G>T	ENSP00000301011:p.Asp664Tyr	NA	Q96DG4|Q96MP7	37	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746622	0.30955	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588	T;T	0.33216	1.42;1.42	5.38	5.38	0.77491	.	0.098661	0.64402	D	0.000001	T	0.49847	0.1581	L	0.51422	1.61	0.49582	D	0.999801	D;D	0.76494	0.999;0.999	D;D	0.66351	0.943;0.943	T	0.49670	-0.8915	10	0.87932	D	0	-20.5211	17.3162	0.87225	0.0:0.0:1.0:0.0	.	688;664	E7ERS3;Q86VM9	.;ZCH18_HUMAN	Y	664;632;688	ENSP00000301011:D664Y;ENSP00000416951:D688Y	ENSP00000289509:D632Y	D	+	1	0	ZC3H18	87218602	1.000000	0.71417	0.993000	0.49108	0.517000	0.34286	5.129000	0.64739	2.527000	0.85204	0.655000	0.94253	GAC	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269168.1		+	ENST00000301011.5	Missense_Mutation	SNP	16 : 88691101 - 88691101 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	341	94
PXDN	7837	broad.mit.edu	37	2	1651965	1651965	+	Missense_Mutation	SNP	T	T	G	rs13398588		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1651965T>G	ENST00000252804.4	-	17	3637	c.3587A>C	c.(3586-3588)gAg>gCg	p.E1196A		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1196					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CTCCCGGATCTCAGGGTTTTT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	119	116			NA	NA	2		NA											NA				1651965		1977	4154	6131	SO:0001583	missense			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508	7837	7837		Immunoglobulin superfamily / I-set domain containing	14966	protein-coding gene	gene with protein product		605158			NA	10441517, 9039502	Standard	XM_056455	XM_005264707	NA	Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3587A>C	2.37:g.1651965T>G	ENSP00000252804:p.Glu1196Ala	NA	A8QM65|D6W4Y0|Q4KMG2	37	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	T	8.883	0.952195	0.18431	.	.	ENSG00000130508	ENST00000252804	T	0.74632	-0.86	5.48	2.98	0.34508	.	0.670381	0.15817	N	0.243172	T	0.67618	0.2912	L	0.48877	1.53	0.20563	N	0.999887	B	0.19445	0.036	B	0.32928	0.155	T	0.55503	-0.8131	10	0.26408	T	0.33	-25.6379	8.3858	0.32499	0.1346:0.0:0.1331:0.7322	.	1196	Q92626	PXDN_HUMAN	A	1196	ENSP00000252804:E1196A	ENSP00000252804:E1196A	E	-	2	0	PXDN	1630972	0.002000	0.14202	0.851000	0.33527	0.976000	0.68499	0.660000	0.25009	0.332000	0.23536	0.529000	0.55759	GAG	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322505.1		-	ENST00000252804.4	Missense_Mutation	SNP	2 : 1651965 - 1651965 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1207	173
ACTR5	79913	broad.mit.edu	37	20	37394145	37394145	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:37394145C>T	ENST00000243903.4	+	6	1314	c.1277C>T	c.(1276-1278)cCg>cTg	p.P426L		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	426					DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding			kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				GTGGAGAAGCCGGTCACCACT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	134	133			NA	NA	20		NA											NA				37394145		2203	4300	6503	SO:0001583	missense			AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442	79913	79913		INO80 complex subunits	14671	protein-coding gene	gene with protein product	INO80 complex subunit M		ARP5 (actin-related protein 5, yeast) homolog		NA	16230350	Standard	NM_024855	NM_024855	NA	Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.1277C>T	20.37:g.37394145C>T	ENSP00000243903:p.Pro426Leu	NA	Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	37	CCDS13308.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087033	0.76642	.	.	ENSG00000101442	ENST00000243903	D	0.96265	-3.96	5.13	5.13	0.70059	.	0.216243	0.47852	D	0.000202	D	0.97368	0.9139	M	0.71871	2.18	0.58432	D	0.999998	D	0.76494	0.999	P	0.59595	0.86	D	0.97583	1.0112	10	0.56958	D	0.05	-15.2555	17.1119	0.86678	0.0:1.0:0.0:0.0	.	426	Q9H9F9	ARP5_HUMAN	L	426	ENSP00000243903:P426L	ENSP00000243903:P426L	P	+	2	0	ACTR5	36827559	1.000000	0.71417	0.955000	0.39395	0.906000	0.53458	3.616000	0.54174	2.553000	0.86117	0.455000	0.32223	CCG	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079205.2		+	ENST00000243903.4	Missense_Mutation	SNP	20 : 37394145 - 37394145 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	661	112
HMG20B	10362	broad.mit.edu	37	19	3576607	3576607	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3576607C>A	ENST00000333651.6	+	7	651	c.576C>A	c.(574-576)ttC>ttA	p.F192L		NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN	high mobility group 20B	192					blood coagulation|cell cycle|chromatin modification	chromosome|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGAAGAGTTCTTGGACCAAA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	72	71			NA	NA	19		NA											NA				3576607		2008	4159	6167	SO:0001583	missense			BC003505	CCDS45919.1	19p13.3	2011-07-01	2011-04-05		ENSG00000064961	ENSG00000064961	10362	10362		High mobility group / Non-canonical	5002	protein-coding gene	gene with protein product	HMG box domain containing 2	605535	high-mobility group 20B		NA	10773667	Standard	NM_006339	NM_006339	NA	Approved	SOXL, HMGX2, BRAF35, SMARCE1r, BRAF25, HMGXB2	uc002lya.3	Q9P0W2	OTTHUMG00000150437	ENST00000333651.6:c.576C>A	19.37:g.3576607C>A	ENSP00000328269:p.Phe192Leu	NA	A6NMS5|D6W616|Q6IBP8|Q8NBD5|Q9HD21|Q9Y491|Q9Y4A2	37	CCDS45919.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.2|24.2	4.504858|4.504858	0.85176|0.85176	.|.	.|.	ENSG00000064961|ENSG00000064961	ENST00000416526;ENST00000333651;ENST00000262949|ENST00000402569	D;T|.	0.85556|.	-2.0;-0.74|.	4.87|4.87	1.54|1.54	0.23209|0.23209	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.72510|0.72510	0.3469|0.3469	M|M	0.85197|0.85197	2.74|2.74	0.46749|0.46749	D|D	0.999183|0.999183	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.71076|0.71076	-0.4697|-0.4697	10|6	0.40728|0.87932	T|D	0.16|0	-23.6179|-23.6179	7.2297|7.2297	0.26036|0.26036	0.0:0.6278:0.0:0.3722|0.0:0.6278:0.0:0.3722	.|.	192;192|.	A8K0D5;Q9P0W2|.	.;HM20B_HUMAN|.	L|Y	192;192;209|23	ENSP00000410924:F192L;ENSP00000328269:F192L|.	ENSP00000262949:F209L|ENSP00000385987:S23Y	F|S	+|+	3|2	2|0	HMG20B|HMG20B	3527607|3527607	0.277000|0.277000	0.24220|0.24220	0.998000|0.998000	0.56505|0.56505	0.993000|0.993000	0.82548|0.82548	-0.222000|-0.222000	0.09190|0.09190	0.116000|0.116000	0.18110|0.18110	0.561000|0.561000	0.74099|0.74099	TTC|TCT	HMG20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318088.1		+	ENST00000333651.6	Missense_Mutation	SNP	19 : 3576607 - 3576607 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	111	26
AASS	10157	broad.mit.edu	37	7	121769556	121769556	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121769556A>G	ENST00000393376.1	-	2	341	c.246T>C	c.(244-246)gaT>gaC	p.D82D	AASS_ENST00000417368.2_Silent_p.D82D|AASS_ENST00000473553.1_Intron			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	82	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	CTTCAGAAATATCCTCCTGAA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	66	65			NA	NA	7		NA											NA				121769556		2203	4300	6503	SO:0001819	synonymous_variant			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311	10157	10157			17366	protein-coding gene	gene with protein product		605113			NA	10775527	Standard	NM_005763	NM_005763	NA	Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.246T>C	7.37:g.121769556A>G		NA	O95462	37	CCDS5783.1																																																																																			AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347300.1		-	ENST00000393376.1	Silent	SNP	7 : 121769556 - 121769556 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	347	57
BCL6	604	broad.mit.edu	37	3	187449609	187449609	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:187449609A>G	ENST00000450123.2	-	3	294	c.271T>C	c.(271-273)Tac>Cac	p.Y91H	BCL6_ENST00000232014.4_Missense_Mutation_p.Y91H|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000406870.2_Missense_Mutation_p.Y91H|RP11-211G3.3_ENST00000437407.1_Intron	NM_001134738.1	NP_001128210.1	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	91	BTB.				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CGAGATGTGTACATGAAGTCC	0.488		NA	T, Mis	IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3	NHL, CLL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		3	3q27	604	B-cell CLL/lymphoma 6		L	0													114	94	101			NA	NA	3		NA											NA				187449609		2203	4300	6503	SO:0001583	missense				CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916	604	604		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	1001	protein-coding gene	gene with protein product		109565	zinc finger protein 51	ZNF51	NA		Standard	NM_138931	NM_001130845	NA	Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000450123.2:c.271T>C	3.37:g.187449609A>G	ENSP00000413122:p.Tyr91His	NA	A7E241|D3DNV5	37	CCDS46975.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.752661	0.89753	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123;ENST00000430339;ENST00000438077	D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44	5.65	5.65	0.86999	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.96448	0.8841	H	0.96691	3.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97740	1.0208	10	0.87932	D	0	.	15.364	0.74507	1.0:0.0:0.0:0.0	.	91;91	B8PSA7;P41182	.;BCL6_HUMAN	H	91	ENSP00000384371:Y91H;ENSP00000232014:Y91H;ENSP00000413122:Y91H;ENSP00000415574:Y91H;ENSP00000414455:Y91H	ENSP00000232014:Y91H	Y	-	1	0	BCL6	188932303	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.962000	0.93254	2.288000	0.76882	0.482000	0.46254	TAC	BCL6-010	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344211.2		-	ENST00000450123.2	Missense_Mutation	SNP	3 : 187449609 - 187449609 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	14
DAG1	1605	broad.mit.edu	37	3	49569067	49569067	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49569067G>A	ENST00000539901.1	+	3	1681	c.1123G>A	c.(1123-1125)Gcc>Acc	p.A375T	DAG1_ENST00000545947.1_Missense_Mutation_p.A375T|DAG1_ENST00000538711.1_Missense_Mutation_p.A375T|DAG1_ENST00000541308.1_Missense_Mutation_p.A375T|DAG1_ENST00000515359.2_Missense_Mutation_p.A375T|DAG1_ENST00000308775.2_Missense_Mutation_p.A375T	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	375	Mucin-like domain.|Required for laminin recognition.|Thr-rich.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GACTCGAGGCGCCATTATTCA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	104	102			NA	NA	3		NA											NA				49569067		2203	4300	6503	SO:0001583	missense			L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402	1605	1605			2666	protein-coding gene	gene with protein product	alpha-dystroglycan, dystrophin-associated glycoprotein-1, beta-dystroglycan	128239			NA	7774920, 1741056	Standard		NM_001177643	NA	Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.1123G>A	3.37:g.49569067G>A	ENSP00000439334:p.Ala375Thr	NA	A8K6M7|Q969J9	37	CCDS2799.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.651398	0.67472	.	.	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	5.74	5.74	0.90152	.	0.152399	0.64402	D	0.000014	T	0.34687	0.0906	L	0.29908	0.895	0.36969	D	0.893748	P	0.36909	0.573	B	0.26693	0.072	T	0.32241	-0.9914	9	.	.	.	-29.9484	18.6912	0.91583	0.0:0.0:1.0:0.0	.	375	Q14118	DAG1_HUMAN	T	375	ENSP00000440705:A375T;ENSP00000312435:A375T;ENSP00000442600:A375T;ENSP00000440590:A375T;ENSP00000439334:A375T;ENSP00000438421:A375T	.	A	+	1	0	DAG1	49544071	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	2.646000	0.46630	2.702000	0.92279	0.655000	0.94253	GCC	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346326.1		+	ENST00000539901.1	Missense_Mutation	SNP	3 : 49569067 - 49569067 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	799	167
AARS2	57505	broad.mit.edu	37	6	44270564	44270564	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44270564G>A	ENST00000244571.4	-	17	2341	c.2339C>T	c.(2338-2340)gCc>gTc	p.A780V	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	780					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CCCAGTGACGGCCAGCAGGCG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	35	36			NA	NA	6		NA											NA				44270564		2203	4300	6503	SO:0001583	missense			AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	57505	57505	6.1.1.7	Aminoacyl tRNA synthetases / Class II	21022	protein-coding gene	gene with protein product	alanine tRNA ligase 2, mitochondrial	612035	alanyl-tRNA synthetase like, alanyl-tRNA synthetase 2, mitochondrial (putative)	AARSL	NA	15779907, 21549344	Standard	NM_020745	NM_020745	NA	Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.2339C>T	6.37:g.44270564G>A	ENSP00000244571:p.Ala780Val	NA	A2RRN5|Q8N198|Q96D02|Q9ULF0	37	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360816	0.61403	.	.	ENSG00000124608	ENST00000244571	T	0.71817	-0.6	5.79	5.79	0.91817	Alanyl-tRNA synthetase, class IIc, core domain (1);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.110343	0.64402	D	0.000008	T	0.62974	0.2472	M	0.71581	2.175	0.80722	D	1	B	0.25390	0.125	B	0.22152	0.038	T	0.65693	-0.6106	10	0.87932	D	0	-17.9853	17.1959	0.86892	0.0:0.0:1.0:0.0	.	780	Q5JTZ9	SYAM_HUMAN	V	780	ENSP00000244571:A780V	ENSP00000244571:A780V	A	-	2	0	AARS2	44378542	1.000000	0.71417	0.965000	0.40720	0.353000	0.29299	6.556000	0.73932	2.733000	0.93635	0.655000	0.94253	GCC	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040741.2		-	ENST00000244571.4	Missense_Mutation	SNP	6 : 44270564 - 44270564 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	190	31
DCDC1	341019	broad.mit.edu	37	11	31312288	31312288	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:31312288A>C	ENST00000597505.1	-	5	865	c.866T>G	c.(865-867)cTt>cGt	p.L289R	DCDC1_ENST00000452803.1_Missense_Mutation_p.L289R			P59894	DCDC1_HUMAN	doublecortin domain containing 1	289					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CCTCTCAGTAAGTTTCTTCAT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	85	85			NA	NA	11		NA											NA				31312288		2202	4299	6501	SO:0001583	missense			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959	341019	341019			20625	protein-coding gene	gene with protein product		608062			NA	12820024	Standard	NM_181807	NM_181807	NA	Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.866T>G	11.37:g.31312288A>C	ENSP00000472625:p.Leu289Arg	NA	A6PVL6	37		.	.	.	.	.	.	.	.	.	.	A	17.63	3.436480	0.62955	.	.	ENSG00000188682	ENST00000452803	D	0.93659	-3.26	5.26	4.06	0.47325	Doublecortin domain (1);	0.000000	0.44902	D	0.000419	D	0.94095	0.8107	M	0.72894	2.215	0.27403	N	0.954804	D	0.59357	0.985	P	0.53760	0.734	D	0.89469	0.3742	10	0.87932	D	0	-21.493	10.7159	0.46013	0.8585:0.0:0.0:0.1415	.	289	P59894	DCDC1_HUMAN	R	289	ENSP00000389792:L289R	ENSP00000389792:L289R	L	-	2	0	DCDC1	31268864	0.994000	0.37717	0.999000	0.59377	0.998000	0.95712	2.673000	0.46858	2.105000	0.64084	0.533000	0.62120	CTT	DCDC1-010	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000463167.1		-	ENST00000597505.1	Missense_Mutation	SNP	11 : 31312288 - 31312288 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	355	29
NOTCH3	4854	broad.mit.edu	37	19	15291787	15291787	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15291787C>T	ENST00000263388.2	-	18	3054	c.2979G>A	c.(2977-2979)acG>acA	p.T993T		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	993	EGF-like 25.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			ACTGCGGGCCCGTGAAGCTCT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													10	11	11			NA	NA	19		NA											NA				15291787		2183	4277	6460	SO:0001819	synonymous_variant			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181	4854	4854		Ankyrin repeat domain containing	7883	protein-coding gene	gene with protein product		600276	Notch (Drosophila) homolog 3, Notch homolog 3 (Drosophila)	CADASIL	NA	7835890	Standard	NM_000435	NM_000435	NA	Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.2979G>A	19.37:g.15291787C>T		NA	Q9UEB3|Q9UPL3|Q9Y6L8	37	CCDS12326.1																																																																																			NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465714.1		-	ENST00000263388.2	Silent	SNP	19 : 15291787 - 15291787 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	59	10
SLC35A2	7355	broad.mit.edu	37	X	48767103	48767103	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48767103C>T	ENST00000376521.1	-	2	583	c.262G>A	c.(262-264)Gca>Aca	p.A88T	SLC35A2_ENST00000247138.5_Missense_Mutation_p.A88T|SLC35A2_ENST00000452555.2_Missense_Mutation_p.A116T|SLC35A2_ENST00000376512.1_Missense_Mutation_p.A88T|SLC35A2_ENST00000445167.2_Missense_Mutation_p.A88T|SLC35A2_ENST00000413561.2_Intron|SLC35A2_ENST00000376515.3_Missense_Mutation_p.A64T|SLC35A2_ENST00000376529.3_Missense_Mutation_p.A88T	NM_001042498.2	NP_001035963.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	88					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						CTCTTCTGTGCGAAGAGCAGC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	49	56			NA	NA	X		NA											NA				48767103		2203	4300	6503	SO:0001583	missense			D88146	CCDS14311.1, CCDS35247.1, CCDS43937.1, CCDS65253.1, CCDS65254.1, CCDS75973.1, CCDS75974.1, CCDS75975.1	Xp11.23-p11.22	2013-05-22			ENSG00000102100	ENSG00000102100	7355	7355		Solute carriers	11022	protein-coding gene	gene with protein product		314375	solute carrier family 35 (UDP-galactose transporter), member 2	UGALT	NA	8128316	Standard	NM_005660	NM_001042498	NA	Approved	UGAT, UGT, UGT1, UGT2, UGTL	uc004dlo.1	P78381	OTTHUMG00000024129	ENST00000376521.1:c.262G>A	X.37:g.48767103C>T	ENSP00000365704:p.Ala88Thr	NA	A8K9V1|Q92553	37	CCDS43937.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.667952	0.29604	.	.	ENSG00000102100	ENST00000247138;ENST00000376529;ENST00000376521;ENST00000445167;ENST00000376515;ENST00000452555;ENST00000446885;ENST00000376512	T;T;T;T	0.46819	0.86;0.87;0.87;0.95	5.51	3.73	0.42828	.	0.451423	0.22929	N	0.053937	T	0.25419	0.0618	N	0.22421	0.69	0.31803	N	0.628153	P;B;P;P;P;B;B	0.48350	0.848;0.049;0.835;0.552;0.909;0.03;0.087	B;B;B;B;B;B;B	0.37198	0.201;0.031;0.16;0.029;0.243;0.04;0.031	T	0.19943	-1.0290	10	0.22706	T	0.39	-6.0309	5.7861	0.18334	0.0:0.6974:0.0:0.3026	.	101;116;101;16;88;88;88	B4DSH7;E7EW45;B4DE15;Q8NBD6;P78381-3;P78381-2;P78381	.;.;.;.;.;.;S35A2_HUMAN	T	88;88;88;88;64;116;16;88	ENSP00000247138:A88T;ENSP00000365704:A88T;ENSP00000416002:A116T;ENSP00000415518:A16T	ENSP00000247138:A88T	A	-	1	0	SLC35A2	48652047	0.979000	0.34478	1.000000	0.80357	0.826000	0.46750	0.243000	0.18106	1.080000	0.41073	0.600000	0.82982	GCA	SLC35A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060791.1		-	ENST00000376521.1	Missense_Mutation	SNP	X : 48767103 - 48767103 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	70	22
LRRC4B	94030	broad.mit.edu	37	19	51021716	51021716	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51021716G>A	ENST00000599957.1	-	3	1451	c.1254C>T	c.(1252-1254)gaC>gaT	p.D418D	LRRC4B_ENST00000389201.3_Silent_p.D418D			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	418	Ig-like C2-type.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TAAGCGTGCCGTCATGCAGGA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	73	70			NA	NA	19		NA											NA				51021716		2196	4278	6474	SO:0001819	synonymous_variant			BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409	94030	94030		Immunoglobulin superfamily / I-set domain containing, Endogenous ligands	25042	protein-coding gene	gene with protein product	netrin-G3 ligand		leucine-rich repeats and immunoglobulin-like domains 4	LRIG4	NA	11441184	Standard	NM_001080457	NM_001080457	NA	Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1254C>T	19.37:g.51021716G>A		NA	Q3ZCQ4|Q58F20	37	CCDS42595.1																																																																																			LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464907.1		-	ENST00000599957.1	Silent	SNP	19 : 51021716 - 51021716 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	345	56
STAR	6770	broad.mit.edu	37	8	38006257	38006257	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38006257G>A	ENST00000276449.4	-	2	526	c.80C>T	c.(79-81)gCt>gTt	p.A27V		NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	27					C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		GGCCATCACAGCCTGTTGCCT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	34	33			NA	NA	8		NA											NA				38006257		2203	4300	6503	SO:0001583	missense			BC010550	CCDS6102.1	8p11.2	2011-09-13	2007-05-15		ENSG00000147465	ENSG00000147465	6770	6770		StAR-related lipid transfer (START) domain containing	11359	protein-coding gene	gene with protein product	StAR-related lipid transfer (START) domain containing 1	600617	steroidogenic acute regulator		NA	7761400	Standard	NM_000349	NM_000349	NA	Approved	StAR, STARD1	uc003xkv.1	P49675	OTTHUMG00000164058	ENST00000276449.4:c.80C>T	8.37:g.38006257G>A	ENSP00000276449:p.Ala27Val	NA	Q16396	37	CCDS6102.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169796	0.78452	.	.	ENSG00000147465	ENST00000276449	D	0.91295	-2.82	5.28	5.28	0.74379	.	0.046597	0.85682	D	0.000000	D	0.94699	0.8290	M	0.81112	2.525	0.80722	D	1	D	0.56968	0.978	P	0.57468	0.821	D	0.95149	0.8271	10	0.87932	D	0	-11.4038	19.2762	0.94032	0.0:0.0:1.0:0.0	.	27	P49675	STAR_HUMAN	V	27	ENSP00000276449:A27V	ENSP00000276449:A27V	A	-	2	0	STAR	38125414	1.000000	0.71417	0.098000	0.21074	0.326000	0.28443	8.819000	0.91997	2.630000	0.89119	0.462000	0.41574	GCT	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376990.2		-	ENST00000276449.4	Missense_Mutation	SNP	8 : 38006257 - 38006257 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	246	34
C1S	716	broad.mit.edu	37	12	7169900	7169900	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7169900G>T	ENST00000402681.3	+	3	359				C1S_ENST00000328916.3_Nonsense_Mutation_p.E43*|C1S_ENST00000360817.5_Nonsense_Mutation_p.E43*|C1S_ENST00000406697.1_Nonsense_Mutation_p.E43*			P09871	C1S_HUMAN	complement component 1, s subcomponent	NA					complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTGGGACATAGAAGTTCCTGA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(156;750 1943 12971 24779 31015)							NA				0													145	136	139			NA	NA	12		NA											NA				7169900		2203	4300	6503	SO:0001627	intron_variant				CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	716	716	3.4.21.42	Complement system	1247	protein-coding gene	gene with protein product		120580			NA		Standard	NM_001734	NM_201442	NA	Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000402681.3:c.-288-294G>T	12.37:g.7169900G>T		NA	D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	37		.	.	.	.	.	.	.	.	.	.	G	41	8.566988	0.98866	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000423384;ENST00000413211;ENST00000403949	.	.	.	5.77	3.45	0.39498	.	0.000000	0.43919	D	0.000504	.	.	.	.	.	.	0.19575	N	0.999964	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	4.3174	0.11000	0.089:0.2754:0.5153:0.1204	.	.	.	.	X	43;43;43;25;43;43;43	.	ENSP00000328173:E43X	E	+	1	0	C1S	7040161	0.002000	0.14202	0.996000	0.52242	0.976000	0.68499	0.258000	0.18387	2.724000	0.93272	0.561000	0.74099	GAA	C1S-017	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000401825.1		+	ENST00000402681.3	Intron	SNP	12 : 7169900 - 7169900 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	388	68
DRG2	1819	broad.mit.edu	37	17	18002358	18002358	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18002358G>A	ENST00000583355.1	+	3	242				DRG2_ENST00000225729.3_Missense_Mutation_p.D115N|DRG2_ENST00000395726.4_Missense_Mutation_p.D115N			P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	NA					signal transduction		GTP binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					CCAGCTCCTGGACCTTCCTGG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	102	105			NA	NA	17		NA											NA				18002358		2203	4300	6503	SO:0001627	intron_variant			X80754	CCDS11191.1	17p13-p12	2008-07-18	2001-11-28		ENSG00000108591	ENSG00000108591	1819	1819			3030	protein-coding gene	gene with protein product		602986	developmentally regulated GTP-binding protein 2		NA	9605870, 7929244	Standard	NM_001388	NM_001388	NA	Approved		uc002gsh.2	P55039	OTTHUMG00000059399	ENST00000583355.1:c.226-4757G>A	17.37:g.18002358G>A		NA	B2R8G5|Q9BWB2	37		.	.	.	.	.	.	.	.	.	.	G	18.55	3.647216	0.67358	.	.	ENSG00000108591	ENST00000395726;ENST00000225729	T;T	0.73047	-0.71;-0.71	5.05	5.05	0.67936	GTP1/OBG, conserved site (1);Small GTP-binding protein domain (1);GTP1/OBG (1);GTP-binding domain, HSR1-related (1);	0.000000	0.85682	D	0.000000	D	0.92691	0.7677	H	0.99961	5.07	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96686	0.9507	10	0.87932	D	0	-18.123	18.4054	0.90533	0.0:0.0:1.0:0.0	.	115;115;115	B4DIG2;A8MZF9;P55039	.;.;DRG2_HUMAN	N	115	ENSP00000379076:D115N;ENSP00000225729:D115N	ENSP00000225729:D115N	D	+	1	0	DRG2	17943083	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.713000	0.98740	2.344000	0.79699	0.563000	0.77884	GAC	DRG2-025	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000447190.1		+	ENST00000583355.1	Intron	SNP	17 : 18002358 - 18002358 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	427	74
COG3	83548	broad.mit.edu	37	13	46067616	46067616	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46067616A>C	ENST00000349995.5	+	12	1434	c.1322A>C	c.(1321-1323)aAc>aCc	p.N441T	COG3_ENST00000465942.1_3'UTR	NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	441					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		CATGTGCAGAACAATGGTAAA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(150;1048 1859 18083 21577 42700)							NA				0													127	118	121			NA	NA	13		NA											NA				46067616		2203	4300	6503	SO:0001583	missense			AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152	83548	83548		Components of oligomeric golgi complex	18619	protein-coding gene	gene with protein product		606975			NA	11980916	Standard		NM_031431	NA	Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.1322A>C	13.37:g.46067616A>C	ENSP00000258654:p.Asn441Thr	NA	B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	37	CCDS9398.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.548562	0.65311	.	.	ENSG00000136152	ENST00000349995	T	0.46063	0.88	5.63	5.63	0.86233	.	0.045932	0.85682	D	0.000000	T	0.42063	0.1186	L	0.37561	1.115	0.58432	D	0.999997	B;D;D	0.57257	0.138;0.979;0.974	B;P;P	0.51777	0.039;0.679;0.647	T	0.16012	-1.0417	10	0.10636	T	0.68	-9.047	15.0147	0.71576	1.0:0.0:0.0:0.0	.	278;441;441	B4E2F3;Q96JB2;Q96JB2-2	.;COG3_HUMAN;.	T	441	ENSP00000258654:N441T	ENSP00000258654:N441T	N	+	2	0	COG3	44965617	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.331000	0.96430	2.138000	0.66242	0.377000	0.23210	AAC	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044777.2		+	ENST00000349995.5	Missense_Mutation	SNP	13 : 46067616 - 46067616 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	418	74
HLA-A	3105	broad.mit.edu	37	6	29911111	29911111	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29911111A>G	ENST00000396634.1	+	5	751	c.410A>G	c.(409-411)tAc>tGc	p.Y137C	HLA-A_ENST00000376806.5_Missense_Mutation_p.Y137C|HLA-A_ENST00000376802.2_Missense_Mutation_p.Y137C|HLA-A_ENST00000376809.5_Missense_Mutation_p.Y137C			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	137	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CTCCGCGGGTACCGGCAGGAC	0.667		NA							Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	25	28			NA	NA	6		NA											NA				29911111		1495	2696	4191	SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503	3105	3105		Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing	4931	protein-coding gene	gene with protein product		142800			NA	8838351	Standard	NM_002116	NM_001242758	NA	Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.410A>G	6.37:g.29911111A>G	ENSP00000379873:p.Tyr137Cys	NA	O77964|O78171|Q9MYA3|Q9TP25|Q9TQP5	37	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	9.604	1.129503	0.21041	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.01068	5.38;5.38;5.38;5.38	3.78	2.5	0.30297	MHC class I, alpha chain, alpha1/alpha2 (8);MHC classes I/II-like antigen recognition protein (4);MHC class I-like antigen recognition (4);	0.538304	0.13547	U	0.379726	T	0.08537	0.0212	H	0.99887	4.895	0.23751	N	0.996947	D;D;D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.992;1.0;1.0;1.0;1.0;1.0;1.0	T	0.37478	-0.9704	10	0.87932	D	0	.	7.6849	0.28534	0.811:0.0:0.0:0.189	.	16;137;137;137;137;137;137	B4DVB9;P13746;Q5SRN7;P16188;Q5SRN5;P30455;P04439	.;1A11_HUMAN;.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	C	137	ENSP00000379873:Y137C;ENSP00000366002:Y137C;ENSP00000366005:Y137C;ENSP00000365998:Y137C	ENSP00000348012:Y137C	Y	+	2	0	HLA-A	30019090	0.001000	0.12720	0.757000	0.31301	0.175000	0.22909	0.862000	0.27899	1.710000	0.51325	0.397000	0.26171	TAC	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252909.1		+	ENST00000396634.1	Missense_Mutation	SNP	6 : 29911111 - 29911111 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	291	30
MSRB2	22921	broad.mit.edu	37	10	23409785	23409785	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23409785A>C	ENST00000376510.3	+	5	646	c.543A>C	c.(541-543)aaA>aaC	p.K181N	MSRB2_ENST00000468633.1_3'UTR	NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	181					protein repair	mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	AACCAAGGAAACACTGACCAT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(89;1240 1363 4973 30188 42299)							NA				0													105	100	102			NA	NA	10		NA											NA				23409785		1999	4151	6150	SO:0001583	missense			AF122004	CCDS41495.1	10p12	2004-12-07	2004-12-06	2004-12-07	ENSG00000148450	ENSG00000148450	22921	22921			17061	protein-coding gene	gene with protein product		613782	methionine sulfoxide reductase B	MSRB	NA	8749308, 10375640	Standard	NM_012228	NM_012228	NA	Approved	PILB, CGI-131, CBS1, CBS-1	uc001iro.3	Q9Y3D2	OTTHUMG00000017812	ENST00000376510.3:c.543A>C	10.37:g.23409785A>C	ENSP00000365693:p.Lys181Asn	NA	Q17R44|Q4G1C7|Q9Y5W6	37	CCDS41495.1	.	.	.	.	.	.	.	.	.	.	A	13.50	2.255142	0.39896	.	.	ENSG00000148450	ENST00000376510	T	0.76448	-1.02	5.11	-1.37	0.09056	Mss4-like (1);Methionine sulphoxide reductase B (2);	0.989465	0.08160	U	0.988579	T	0.61286	0.2335	N	0.19112	0.55	0.09310	N	1	B	0.25772	0.134	B	0.28991	0.097	T	0.51268	-0.8727	10	0.59425	D	0.04	2.1645	4.2583	0.10728	0.4603:0.0:0.379:0.1607	.	181	Q9Y3D2	MSRB2_HUMAN	N	181	ENSP00000365693:K181N	ENSP00000365693:K181N	K	+	3	2	MSRB2	23449791	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.456000	0.21859	-0.537000	0.06290	-0.256000	0.11100	AAA	MSRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047205.1		+	ENST00000376510.3	Missense_Mutation	SNP	10 : 23409785 - 23409785 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	157	28
APOL5	80831	broad.mit.edu	37	22	36124810	36124810	+	Silent	SNP	G	G	A	rs142361344	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36124810G>A	ENST00000249044.2	+	4	1167	c.1167G>A	c.(1165-1167)caG>caA	p.Q389Q		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	389					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						TGGAGCACCAGCCTAGGCTGG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	67	68			NA	NA	22		NA											NA				36124810		2203	4300	6503	SO:0001819	synonymous_variant			AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313	80831	80831		Apolipoproteins	14869	protein-coding gene	gene with protein product		607255			NA	11374903	Standard	NM_030642	NM_030642	NA	Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.1167G>A	22.37:g.36124810G>A		NA	Q5TFL9|Q9UGW5	37	CCDS13920.1																																																																																			APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318979.1		+	ENST00000249044.2	Silent	SNP	22 : 36124810 - 36124810 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	517	78
LRRC27	80313	broad.mit.edu	37	10	134188633	134188633	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134188633C>T	ENST00000368614.3	+	11	1585	c.1480C>T	c.(1480-1482)Cga>Tga	p.R494*	LRRC27_ENST00000368613.4_Nonsense_Mutation_p.R494*|LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000368610.3_Nonsense_Mutation_p.R432*|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368612.1_Nonsense_Mutation_p.R432*	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	494										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CAAAGATCGTCGACGGGCGGC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	70	70			NA	NA	10		NA											NA				134188633		2203	4300	6503	SO:0001587	stop_gained			AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814	80313	80313			29346	protein-coding gene	gene with protein product					NA	11214970	Standard	XM_290462	NM_030626	NA	Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.1480C>T	10.37:g.134188633C>T	ENSP00000357603:p.Arg494*	NA	A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	37	CCDS31316.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.324770	0.60634	.	.	ENSG00000148814	ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610	.	.	.	3.44	-2.22	0.06952	.	3.434310	0.00988	N	0.003486	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	4.6575	4.1289	0.10139	0.0:0.3457:0.3364:0.3179	.	.	.	.	X	494;494;432;432	.	ENSP00000357599:R432X	R	+	1	2	LRRC27	134038623	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.239000	0.08965	-0.487000	0.06735	0.591000	0.81541	CGA	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051058.2		+	ENST00000368614.3	Nonsense_Mutation	SNP	10 : 134188633 - 134188633 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	364	71
TDRD6	221400	broad.mit.edu	37	6	46661801	46661801	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46661801T>A	ENST00000316081.6	+	1	5936	c.5936T>A	c.(5935-5937)tTt>tAt	p.F1979Y	TDRD6_ENST00000544460.1_Missense_Mutation_p.F1979Y	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1979					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GAAGAAGAATTTGTAGAGTAT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	119	118			NA	NA	6		NA											NA				46661801		2203	4300	6503	SO:0001583	missense			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113	221400	221400		Tudor domain containing	21339	protein-coding gene	gene with protein product	cancer/testis antigen 41.2, spermatogenesis associated 36	611200			NA	9610721	Standard	XM_166443	NM_001010870	NA	Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.5936T>A	6.37:g.46661801T>A	ENSP00000346065:p.Phe1979Tyr	NA	Q5HYB1|Q5VTS4|Q6ZMX5	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	T	14.09	2.432198	0.43122	.	.	ENSG00000180113	ENST00000544460;ENST00000316081;ENST00000371334	T;T	0.23754	1.89;1.92	5.41	2.87	0.33458	.	1.567150	0.03542	N	0.224098	T	0.20129	0.0484	M	0.63843	1.955	0.09310	N	1	P;P	0.45827	0.867;0.791	P;B	0.49829	0.623;0.419	T	0.13361	-1.0512	10	0.59425	D	0.04	-0.4369	5.8137	0.18479	0.1681:0.0:0.1756:0.6563	.	1979;1979	F5H5M3;O60522	.;TDRD6_HUMAN	Y	1979;1979;40	ENSP00000443299:F1979Y;ENSP00000346065:F1979Y	ENSP00000346065:F1979Y	F	+	2	0	TDRD6	46769760	0.003000	0.15002	0.010000	0.14722	0.076000	0.17211	0.362000	0.20284	0.296000	0.22592	0.455000	0.32223	TTT	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040800.1		+	ENST00000316081.6	Missense_Mutation	SNP	6 : 46661801 - 46661801 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	492	105
DGKQ	1609	broad.mit.edu	37	4	962266	962266	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:962266C>T	ENST00000273814.3	-	4	611		c.e4+1			NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	NA					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGTACACTCACGTGATCCTGG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(17;537 645 4447 26373)							NA				0													16	18	17			NA	NA	4		NA											NA				962266		2182	4285	6467	SO:0001630	splice_region_variant			L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214	1609	1609			2856	protein-coding gene	gene with protein product		601207	diacylglycerol kinase, theta (110kD)	DAGK4	NA	8617502, 9099683	Standard		NM_001347	NA	Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.537+1G>A	4.37:g.962266C>T		NA	Q6P3W4	37	CCDS3342.1	.	.	.	.	.	.	.	.	.	.	c	12.80	2.047660	0.36085	.	.	ENSG00000145214	ENST00000273814;ENST00000509465;ENST00000510286	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7929	0.69857	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DGKQ	952266	1.000000	0.71417	0.854000	0.33618	0.061000	0.15899	5.246000	0.65411	2.052000	0.61016	0.556000	0.70494	.	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000200888.1	Intron	-	ENST00000273814.3	Splice_Site	SNP	4 : 962266 - 962266 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	66	16
MECOM	2122	broad.mit.edu	37	3	169381144	169381144	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169381144C>T	ENST00000494292.1	-	1	114	c.17G>A	c.(16-18)aGg>aAg	p.R6K	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	6							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTTCCTTGCCCTGCCTTTGGA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	107	103			NA	NA	3		NA											NA				169381144		2024	4178	6202	SO:0001583	missense			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276	2122	2122		Zinc fingers, C2H2-type	3498	protein-coding gene	gene with protein product		165215	myelodysplasia syndrome 1, ecotropic viral integration site 1	MDS1, EVI1	NA	2115646, 8171026, 8643684	Standard	NM_005241, NM_004991	NM_001105077	NA	Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000494292.1:c.17G>A	3.37:g.169381144C>T	ENSP00000417899:p.Arg6Lys	NA	Q13466|Q6FH90	37		.	.	.	.	.	.	.	.	.	.	C	22.8	4.338064	0.81911	.	.	ENSG00000085276	ENST00000494292;ENST00000486748	T	0.06608	3.28	4.75	4.75	0.60458	.	.	.	.	.	T	0.19087	0.0458	L	0.39397	1.21	0.80722	D	1	D;D	0.89917	1.0;0.974	D;D	0.83275	0.996;0.953	T	0.00958	-1.1500	9	0.87932	D	0	.	18.135	0.89616	0.0:1.0:0.0:0.0	.	6;6	Q13465;Q03112-3	MDS1_HUMAN;.	K	6	ENSP00000417899:R6K	ENSP00000419537:R6K	R	-	2	0	MECOM	170863838	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.959000	0.76031	2.370000	0.80446	0.455000	0.32223	AGG	MECOM-004	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000351517.3		-	ENST00000494292.1	Missense_Mutation	SNP	3 : 169381144 - 169381144 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	98	20
NCK2	8440	broad.mit.edu	37	2	106498449	106498449	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106498449G>A	ENST00000233154.4	+	4	1334	c.892G>A	c.(892-894)Gcc>Acc	p.A298T	NCK2_ENST00000522586.1_Intron|NCK2_ENST00000393349.2_Missense_Mutation_p.A298T|NCK2_ENST00000451463.2_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	298	SH2.				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						GGCCGAGTGCGCCCTCAACGA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	26	25			NA	NA	2		NA											NA				106498449		2203	4294	6497	SO:0001583	missense			AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051	8440	8440		SH2 domain containing	7665	protein-coding gene	gene with protein product		604930			NA	9737977, 16752908	Standard	NM_003581	NM_001004720	NA	Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.892G>A	2.37:g.106498449G>A	ENSP00000233154:p.Ala298Thr	NA	D3DVK1|Q9BWN9|Q9UIC3	37	CCDS33266.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.147208	0.57151	.	.	ENSG00000071051	ENST00000233154;ENST00000393349	T;T	0.63255	-0.03;-0.03	5.36	5.36	0.76844	SH2 motif (5);	0.158749	0.53938	D	0.000046	T	0.58293	0.2112	L	0.37507	1.11	0.80722	D	1	P	0.39060	0.657	B	0.39840	0.311	T	0.61143	-0.7122	10	0.52906	T	0.07	-20.2399	19.4433	0.94836	0.0:0.0:1.0:0.0	.	298	O43639	NCK2_HUMAN	T	298	ENSP00000233154:A298T;ENSP00000377018:A298T	ENSP00000233154:A298T	A	+	1	0	NCK2	105864881	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	4.867000	0.63013	2.681000	0.91329	0.462000	0.41574	GCC	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329634.1		+	ENST00000233154.4	Missense_Mutation	SNP	2 : 106498449 - 106498449 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	278	27
OR4A5	81318	broad.mit.edu	37	11	51411931	51411931	+	Silent	SNP	C	C	T	rs140587389	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:51411931C>T	ENST00000319760.6	-	1	517	c.465G>A	c.(463-465)gcG>gcA	p.A155A		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A155A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CAATTTGAAACGCAGAATGTA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	NS(1)						C		3,4399		0,3,2198	86	78	81		465	0.9	0	11	dbSNP_134	81	1,8591		0,1,4295	no	coding-synonymous	OR4A5	NM_001005272.3		0,4,6493	TT,TC,CC	NA	0.0116,0.0682,0.0308		155/316	51411931	4,12990	2201	4296	6497	SO:0001819	synonymous_variant			AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840	81318	81318		GPCR / Class A : Olfactory receptors	15162	protein-coding gene	gene with protein product					NA		Standard	NM_001005272	NM_001005272	NA	Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.465G>A	11.37:g.51411931C>T		NA	Q6IF84	37	CCDS31497.1																																																																																			OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391399.1		-	ENST00000319760.6	Silent	SNP	11 : 51411931 - 51411931 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	316	59
NFIB	4781	broad.mit.edu	37	9	14088266	14088266	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14088266G>A	ENST00000397581.2	-	12	2650	c.1643C>T	c.(1642-1644)cCg>cTg	p.P548L	NFIB_ENST00000380959.3_3'UTR|NFIB_ENST00000380953.1_3'UTR|NFIB_ENST00000397575.3_Missense_Mutation_p.P539L|NFIB_ENST00000543693.1_Missense_Mutation_p.P287L|NFIB_ENST00000397579.2_Missense_Mutation_p.P465L|NFIB_ENST00000380934.4_3'UTR			O00712	NFIB_HUMAN	nuclear factor I/B	0					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GACATTGGCCGGTAAGATGGG	0.438		NA	T	MYB, HGMA2	adenoid cystic carcinoma, lipoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(132;921 1730 14828 40753 46471)		Dom	yes		9	9p24.1	4781	nuclear factor I/B		E	0													48	42	44			NA	NA	9		NA											NA				14088266		2203	4299	6502	SO:0001583	missense			U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862	4781	4781			7785	protein-coding gene	gene with protein product		600728			NA	7590749	Standard	NM_005596	NM_001190737	NA	Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000397581.2:c.1643C>T	9.37:g.14088266G>A	ENSP00000380711:p.Pro548Leu	NA	O00166|Q12858|Q96J45	37		.	.	.	.	.	.	.	.	.	.	G	34	5.332336	0.95733	.	.	ENSG00000147862	ENST00000397575;ENST00000397581;ENST00000397579;ENST00000543693	T;T;T;T	0.58940	0.78;0.78;0.3;0.62	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.79227	0.4410	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.80395	-0.1400	9	0.87932	D	0	-3.5409	20.3465	0.98790	0.0:0.0:1.0:0.0	.	287	G3V1P1	.	L	539;548;465;287	ENSP00000380705:P539L;ENSP00000380711:P548L;ENSP00000380709:P465L;ENSP00000442888:P287L	ENSP00000380705:P539L	P	-	2	0	NFIB	14078266	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.968000	0.93407	2.798000	0.96311	0.655000	0.94253	CCG	NFIB-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000055470.1		-	ENST00000397581.2	Missense_Mutation	SNP	9 : 14088266 - 14088266 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	64	11
EPG5	57724	broad.mit.edu	37	18	43508880	43508880	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43508880G>A	ENST00000282041.5	-	13	2542	c.2508C>T	c.(2506-2508)tcC>tcT	p.S836S		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	836					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CCAGAAGGACGGAAATTATCT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	103	105			NA	NA	18		NA											NA				43508880		1857	4099	5956	SO:0001819	synonymous_variant			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223	57724	57724			29331	protein-coding gene	gene with protein product		615068	KIAA1632	KIAA1632	NA	10997877, 20550938	Standard	NM_020964	XM_005258323	NA	Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.2508C>T	18.37:g.43508880G>A		NA	A2BDF3|Q9H8C8	37	CCDS11926.2																																																																																			EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445081.1		-	ENST00000282041.5	Silent	SNP	18 : 43508880 - 43508880 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	483	83
GRK6	2870	broad.mit.edu	37	5	176859018	176859018	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176859018C>T	ENST00000393576.3	+	3	223	c.171C>T	c.(169-171)tgC>tgT	p.C57C	GRK6_ENST00000355958.5_Silent_p.C57C|GRK6_ENST00000528793.1_Silent_p.C57C|GRK6_ENST00000355472.5_Silent_p.C57C|GRK6_ENST00000507633.1_Silent_p.C57C			P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	57	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGCCTGTGCGAGCGGCAGC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	75	74			NA	NA	5		NA											NA				176859018		2203	4299	6502	SO:0001819	synonymous_variant				CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055	2870	2870			4545	protein-coding gene	gene with protein product		600869		GPRK6	NA	8415712	Standard	NM_002082	NM_002082	NA	Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000393576.3:c.171C>T	5.37:g.176859018C>T		NA	O60541|Q13652	37																																																																																				GRK6-011	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000387002.1		+	ENST00000393576.3	Silent	SNP	5 : 176859018 - 176859018 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	968	234
TCERG1	10915	broad.mit.edu	37	5	145878172	145878172	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145878172C>T	ENST00000296702.5	+	16	2343	c.2305C>T	c.(2305-2307)Cga>Tga	p.R769*	TCERG1_ENST00000394421.2_Nonsense_Mutation_p.R748*	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	769	FF 2.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATGAAAGACCGAGAAGCCTT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	112	111			NA	NA	5		NA											NA				145878172		2203	4300	6503	SO:0001587	stop_gained			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649	10915	10915			15630	protein-coding gene	gene with protein product	transcription factor CA150, co-activator of 150 kDa, TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD, TATA box-binding protein-associated factor 2S	605409	TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD	TAF2S	NA	9315662, 11003711	Standard	NM_001040006	XM_005268365	NA	Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.2305C>T	5.37:g.145878172C>T	ENSP00000296702:p.Arg769*	NA	Q2NKN2|Q59EA1	37	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	C	38	7.176446	0.98114	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	.	.	.	5.51	1.38	0.22167	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.5545	15.1655	0.72821	0.4949:0.5051:0.0:0.0	.	.	.	.	X	769;748	.	ENSP00000296702:R769X	R	+	1	2	TCERG1	145858365	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	1.224000	0.32539	0.017000	0.15025	0.655000	0.94253	CGA	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251886.1		+	ENST00000296702.5	Nonsense_Mutation	SNP	5 : 145878172 - 145878172 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	219	45
SMARCC1	6599	broad.mit.edu	37	3	47742803	47742803	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47742803A>G	ENST00000254480.5	-	11	1249	c.1130T>C	c.(1129-1131)gTa>gCa	p.V377A	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	377					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TATATTGGGTACAGGTGTTGG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	164	168			NA	NA	3		NA											NA				47742803		2203	4300	6503	SO:0001583	missense			U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473	6599	6599			11104	protein-coding gene	gene with protein product		601732			NA	8804307	Standard		NM_003074	NA	Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.1130T>C	3.37:g.47742803A>G	ENSP00000254480:p.Val377Ala	NA	Q17RS0|Q6P172|Q8IWH2	37	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	A	13.35	2.212239	0.39102	.	.	ENSG00000173473	ENST00000254480	T	0.44881	0.91	5.62	5.62	0.85841	.	0.050986	0.85682	D	0.000000	T	0.44138	0.1279	M	0.64404	1.975	0.38441	D	0.946719	P	0.36753	0.568	B	0.38106	0.265	T	0.46624	-0.9178	10	0.35671	T	0.21	-20.6406	14.9784	0.71293	1.0:0.0:0.0:0.0	.	377	Q92922	SMRC1_HUMAN	A	377	ENSP00000254480:V377A	ENSP00000254480:V377A	V	-	2	0	SMARCC1	47717807	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.188000	0.65093	2.263000	0.75096	0.524000	0.50904	GTA	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257491.1		-	ENST00000254480.5	Missense_Mutation	SNP	3 : 47742803 - 47742803 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	393	70
KIAA0947	0	broad.mit.edu	37	5	5463972	5463972	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5463972C>T	ENST00000296564.7	+	13	4747	c.4525C>T	c.(4525-4527)Cgt>Tgt	p.R1509C		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN		1509										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGATAAGAGTCGTTTGCGAAA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	49	49			NA	NA	5		NA											NA				5463972		1908	4117	6025	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000296564.7:c.4525C>T	5.37:g.5463972C>T	ENSP00000296564:p.Arg1509Cys	NA	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	37	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527259	0.64860	.	.	ENSG00000164151	ENST00000296564	T	0.12569	2.67	5.38	3.42	0.39159	.	.	.	.	.	T	0.07999	0.0200	L	0.27053	0.805	0.26004	N	0.982075	P	0.40534	0.72	B	0.34873	0.191	T	0.13361	-1.0512	9	0.37606	T	0.19	-10.3331	5.3434	0.15996	0.2153:0.6816:0.0:0.1031	.	1509	Q9Y2F5	K0947_HUMAN	C	1509	ENSP00000296564:R1509C	ENSP00000296564:R1509C	R	+	1	0	KIAA0947	5516972	0.000000	0.05858	0.578000	0.28575	0.986000	0.74619	0.450000	0.21762	2.524000	0.85096	0.460000	0.39030	CGT	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365575.1		+	ENST00000296564.7	Missense_Mutation	SNP	5 : 5463972 - 5463972 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	191	38
OBSL1	23363	broad.mit.edu	37	2	220424002	220424002	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220424002G>A	ENST00000404537.1	-	9	3227	c.3171C>T	c.(3169-3171)ggC>ggT	p.G1057G	RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000603926.1_Silent_p.G1057G|OBSL1_ENST00000265318.4_Silent_p.G1057G|OBSL1_ENST00000373876.1_Silent_p.G1057G|OBSL1_ENST00000265317.5_Silent_p.G48G	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1057	Ig-like 8.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	p.G1057G(1)			NA		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		ATACAAACTCGCCCCCGTCCT	0.627		NA												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)											104	118	113			NA	NA	2		NA											NA				220424002		2191	4275	6466	SO:0001819	synonymous_variant			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006	23363	23363		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	29092	protein-coding gene	gene with protein product		610991			NA	9734811	Standard		NM_015311	NA	Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.3171C>T	2.37:g.220424002G>A		NA	A4KVA5|Q96IW3	37	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	G	0.360	-0.939949	0.02322	.	.	ENSG00000124006	ENST00000456147	.	.	.	4.34	0.0779	0.14410	.	.	.	.	.	T	0.57946	0.2088	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52094	-0.8621	4	.	.	.	.	10.546	0.45060	0.0:0.34:0.4822:0.1779	.	.	.	.	V	51	.	.	A	-	2	0	OBSL1	220132246	0.958000	0.32768	0.997000	0.53966	0.051000	0.14879	0.087000	0.14958	-0.098000	0.12285	-2.717000	0.00132	GCG	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322012.1		-	ENST00000404537.1	Silent	SNP	2 : 220424002 - 220424002 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	902	140
EDC3	80153	broad.mit.edu	37	15	74948392	74948392	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74948392G>A	ENST00000315127.4	-	4	683	c.502C>T	c.(502-504)Cac>Tac	p.H168Y	EDC3_ENST00000568176.1_Missense_Mutation_p.H168Y|EDC3_ENST00000426797.3_Missense_Mutation_p.H168Y	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	168					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TGATTTGGGTGCCTGCTACTA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	72	73			NA	NA	15		NA											NA				74948392		2197	4296	6493	SO:0001583	missense			BC011534	CCDS10267.1	15q24.1	2013-05-02	2013-05-02	2006-07-07	ENSG00000179151	ENSG00000179151	80153	80153			26114	protein-coding gene	gene with protein product		609842	yjeF domain containing (E.coli), LSM16 homolog (EDC3, S. cerevisiae), enhancer of mRNA decapping 3 homolog (S. cerevisiae)	YJDC, LSM16	NA	15225602, 17533573, 22483619	Standard	NM_025083	NM_025083	NA	Approved	FLJ21128, hYjeF_N2-15q23, YJEFN2	uc002aym.3	Q96F86	OTTHUMG00000142815	ENST00000315127.4:c.502C>T	15.37:g.74948392G>A	ENSP00000320503:p.His168Tyr	NA	B3KPH0|D3DW61|Q9H797	37	CCDS10267.1	.	.	.	.	.	.	.	.	.	.	G	4.854	0.158716	0.09236	.	.	ENSG00000179151	ENST00000315127;ENST00000426797	.	.	.	5.44	5.44	0.79542	.	0.290119	0.38959	N	0.001513	T	0.29389	0.0732	N	0.04508	-0.205	0.36208	D	0.851152	B	0.02656	0.0	B	0.01281	0.0	T	0.29761	-1.0001	9	0.27082	T	0.32	-10.107	11.6774	0.51438	0.0809:0.0:0.9191:0.0	.	168	Q96F86	EDC3_HUMAN	Y	168	.	ENSP00000320503:H168Y	H	-	1	0	EDC3	72735445	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.000000	0.63940	2.535000	0.85469	0.655000	0.94253	CAC	EDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286399.1		-	ENST00000315127.4	Missense_Mutation	SNP	15 : 74948392 - 74948392 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	480	43
SMYD4	114826	broad.mit.edu	37	17	1686706	1686706	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1686706G>A	ENST00000305513.7	-	9	2252	c.2085C>T	c.(2083-2085)caC>caT	p.H695H		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	695							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						CCACCACGGCGTGCTCTGCCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	34	35			NA	NA	17		NA											NA				1686706		2203	4300	6503	SO:0001819	synonymous_variant			AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532	114826	114826		Zinc fingers, MYND-type	21067	protein-coding gene	gene with protein product					NA	11572484	Standard	XM_056082	NM_052928	NA	Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.2085C>T	17.37:g.1686706G>A		NA	Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	37	CCDS11013.1																																																																																			SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207108.4		-	ENST00000305513.7	Silent	SNP	17 : 1686706 - 1686706 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	201	41
PEX16	9409	broad.mit.edu	37	11	45931662	45931662	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45931662G>A	ENST00000241041.3	-	11	1036	c.1019C>T	c.(1018-1020)gCg>gTg	p.A340V		NM_004813.2|NM_057174.2	NP_004804.1|NP_476515	Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	0					ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		TGGGAGGAACGCTGGTGGCGA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	98	97			NA	NA	11		NA											NA				45931662		2203	4299	6502	SO:0001583	missense			AF118240	CCDS7917.1, CCDS31472.1	11p	2007-12-14			ENSG00000121680	ENSG00000121680	9409	9409			8857	protein-coding gene	gene with protein product		603360			NA	9922452	Standard	NM_057174	NM_057174	NA	Approved		uc001nbt.3	Q9Y5Y5	OTTHUMG00000167005	ENST00000241041.3:c.1019C>T	11.37:g.45931662G>A	ENSP00000241041:p.Ala340Val	NA	Q9BWB9	37	CCDS7917.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.791980	0.31685	.	.	ENSG00000121680	ENST00000241041	T	0.24723	1.84	3.84	-1.58	0.08479	.	16.089000	0.00628	N	0.000469	T	0.17238	0.0414	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26121	-1.0112	9	0.87932	D	0	16.0769	1.5518	0.02576	0.1309:0.1354:0.3266:0.4071	.	340	Q9Y5Y5-2	.	V	340	ENSP00000241041:A340V	ENSP00000241041:A340V	A	-	2	0	PEX16	45888238	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.805000	0.01737	-0.406000	0.07588	-0.425000	0.05940	GCG	PEX16-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392396.1		-	ENST00000241041.3	Missense_Mutation	SNP	11 : 45931662 - 45931662 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	476	85
TSC2	7249	broad.mit.edu	37	16	2129279	2129279	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2129279C>T	ENST00000219476.3	+	28	3764	c.3134C>T	c.(3133-3135)tCt>tTt	p.S1045F	TSC2_ENST00000353929.4_Missense_Mutation_p.S1002F|TSC2_ENST00000382538.6_Missense_Mutation_p.S953F|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000350773.4_Missense_Mutation_p.S1045F|TSC2_ENST00000401874.2_Missense_Mutation_p.S1001F|TSC2_ENST00000439673.2_Missense_Mutation_p.S965F|TSC2_ENST00000568454.1_Missense_Mutation_p.S1012F	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1045					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TCTTCTAGGTCTCCTGTGGGC	0.647		NA	D, Mis, N, F, S			hamartoma, renal cell			Tuberous Sclerosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		E, O	0													91	77	82			NA	NA	16		NA											NA				2129279		2197	4300	6497	SO:0001583	missense	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197	7249	7249			12363	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 160	191092		TSC4	NA	1303246, 7558029	Standard	NM_000548	NM_001077183	NA	Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3134C>T	16.37:g.2129279C>T	ENSP00000219476:p.Ser1045Phe	NA	A7E2E2|B4DIQ7|B4DRN2|C9J378|O75275|Q4LE71|Q8TAZ1	37	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695163	0.68386	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.91996	-2.87;-2.88;-2.95;-2.93;-2.84	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.95535	0.8549	M	0.71036	2.16	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.996	D;D;D;D;D;D	0.91635	0.986;0.999;0.994;0.999;0.988;0.982	D	0.94960	0.8107	10	0.40728	T	0.16	-24.1477	18.0348	0.89296	0.0:1.0:0.0:0.0	.	953;965;1045;1001;1001;1045	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	F	1045;1002;1002;965;953;1045	ENSP00000219476:S1045F;ENSP00000248099:S1002F;ENSP00000399232:S965F;ENSP00000371978:S953F;ENSP00000344383:S1045F	ENSP00000219476:S1045F	S	+	2	0	TSC2	2069280	1.000000	0.71417	0.996000	0.52242	0.703000	0.40648	5.798000	0.69095	2.339000	0.79563	0.561000	0.74099	TCT	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250657.2		+	ENST00000219476.3	Missense_Mutation	SNP	16 : 2129279 - 2129279 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	479	91
GALNT15	117248	broad.mit.edu	37	3	16254093	16254093	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:16254093C>T	ENST00000437509.1	+	6	1658	c.1215C>T	c.(1213-1215)ggC>ggT	p.G405G	GALNT15_ENST00000339732.5_Silent_p.G405G					polypeptide N-acetylgalactosaminyltransferase 15	NA											NA						TCTGTGGTGGCTCTGTTGAAA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	60	65			NA	NA	3		NA											NA				16254093		2203	4300	6503	SO:0001819	synonymous_variant			AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	117248	117248	2.4.1.41	Glycosyltransferase family 2 domain containing	21531	protein-coding gene	gene with protein product	polypeptide GalNAc transferase 15	615131	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2, UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15	GALNTL2	NA	12975309, 14702039, 15147861	Standard	NM_054110	NM_054110	NA	Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000437509.1:c.1215C>T	3.37:g.16254093C>T		NA		37																																																																																				GALNT15-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000346609.1		+	ENST00000437509.1	Silent	SNP	3 : 16254093 - 16254093 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	14
CNNM4	26504	broad.mit.edu	37	2	97427765	97427765	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97427765G>T	ENST00000377075.2	+	1	1127	c.1029G>T	c.(1027-1029)gaG>gaT	p.E343D		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	343	DUF21.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						AGCTGATGGAGATGTTGAAGG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	91	93			NA	NA	2		NA											NA				97427765		2203	4300	6503	SO:0001583	missense			AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158	26504	26504			105	protein-coding gene	gene with protein product		607805	cyclin M4	ACDP4	NA	21393841, 24194943	Standard	NM_020184	XM_005263914	NA	Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1029G>T	2.37:g.97427765G>T	ENSP00000366275:p.Glu343Asp	NA	Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	37	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206442	0.58343	.	.	ENSG00000158158	ENST00000377075	D	0.88741	-2.42	5.03	3.25	0.37280	Domain of unknown function DUF21 (1);	0.183995	0.46758	D	0.000264	D	0.90954	0.7156	M	0.84511	2.7	0.80722	D	1	P	0.36110	0.537	P	0.45406	0.479	D	0.88804	0.3287	10	0.59425	D	0.04	-18.7157	8.2718	0.31849	0.2505:0.0:0.7495:0.0	.	343	Q6P4Q7	CNNM4_HUMAN	D	343	ENSP00000366275:E343D	ENSP00000366275:E343D	E	+	3	2	CNNM4	96791492	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.509000	0.53386	0.538000	0.28769	-0.749000	0.03505	GAG	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252954.1		+	ENST00000377075.2	Missense_Mutation	SNP	2 : 97427765 - 97427765 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	468	110
TXNIP	10628	broad.mit.edu	37	1	145438873	145438873	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145438873G>A	ENST00000369317.4	+	1	405	c.71G>A	c.(70-72)gGc>gAc	p.G24D	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	24					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TACGGCAGTGGCGAGAAGGTG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	114	117			NA	NA	1		NA											NA				145438873		2203	4300	6503	SO:0001583	missense			S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972	10628	10628			16952	protein-coding gene	gene with protein product	upregulated by 1,25-dihydroxyvitamin D-3, thioredoxin binding protein 2	606599			NA	8086474	Standard	NM_006472	NM_006472	NA	Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.71G>A	1.37:g.145438873G>A	ENSP00000358323:p.Gly24Asp	NA	Q16226|Q6PML0|Q9BXG9	37	CCDS913.1	.	.	.	.	.	.	.	.	.	.	G	35	5.597236	0.96602	.	.	ENSG00000117289	ENST00000369317	T	0.23348	1.91	5.64	5.64	0.86602	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.053612	0.85682	D	0.000000	T	0.52741	0.1753	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61068	-0.7137	10	0.87932	D	0	-0.422	17.1852	0.86865	0.0:0.0:1.0:0.0	.	24	Q9H3M7	TXNIP_HUMAN	D	24	ENSP00000358323:G24D	ENSP00000358323:G24D	G	+	2	0	TXNIP	144150230	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.980000	0.93460	2.665000	0.90641	0.655000	0.94253	GGC	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000038547.1		+	ENST00000369317.4	Missense_Mutation	SNP	1 : 145438873 - 145438873 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	393	12
ABHD15	116236	broad.mit.edu	37	17	27893616	27893616	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27893616G>T	ENST00000307201.4	-	1	539	c.369C>A	c.(367-369)gcC>gcA	p.A123A	TP53I13_ENST00000584522.1_Intron|RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	123						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						GGTACTCCCGGGCCAGCTCAG	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	23	24			NA	NA	17		NA											NA				27893616		2193	4277	6470	SO:0001819	synonymous_variant			AK056717	CCDS32602.1	17q11.2	2009-11-20			ENSG00000168792	ENSG00000168792	116236	116236		Abhydrolase domain containing	26971	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_198147	NM_198147	NA	Approved		uc002hed.2	Q6UXT9		ENST00000307201.4:c.369C>A	17.37:g.27893616G>T		NA	Q96EC5	37	CCDS32602.1																																																																																			ABHD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447796.2		-	ENST00000307201.4	Silent	SNP	17 : 27893616 - 27893616 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	219	36
EHD3	30845	broad.mit.edu	37	2	31483688	31483688	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31483688A>C	ENST00000322054.5	+	4	1100	c.815A>C	c.(814-816)gAg>gCg	p.E272A	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	272					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					AAGCTCTTTGAGGCTGAGGAA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	84	83			NA	NA	2		NA											NA				31483688		2203	4300	6503	SO:0001583	missense			AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016	30845	30845		EF-hand domain containing	3244	protein-coding gene	gene with protein product		605891		PAST3	NA	10673336	Standard	NM_014600	NM_014600	NA	Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.815A>C	2.37:g.31483688A>C	ENSP00000327116:p.Glu272Ala	NA	D6W574|Q8N514|Q9NZB3	37	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.728124	0.69074	.	.	ENSG00000013016	ENST00000322054	D	0.95885	-3.84	4.97	4.97	0.65823	.	0.094049	0.64402	D	0.000001	D	0.97145	0.9067	M	0.83223	2.63	0.80722	D	1	D	0.57899	0.981	P	0.58454	0.839	D	0.97595	1.0119	10	0.62326	D	0.03	-46.8045	14.8417	0.70230	1.0:0.0:0.0:0.0	.	272	Q9NZN3	EHD3_HUMAN	A	272	ENSP00000327116:E272A	ENSP00000327116:E272A	E	+	2	0	EHD3	31337192	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.139000	0.94554	2.090000	0.63153	0.459000	0.35465	GAG	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216810.1		+	ENST00000322054.5	Missense_Mutation	SNP	2 : 31483688 - 31483688 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	679	49
EPPK1	83481	broad.mit.edu	37	8	144943253	144943253	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144943253C>T	ENST00000525985.1	-	2	4240	c.4169G>A	c.(4168-4170)aGc>aAc	p.S1390N				P58107	EPIPL_HUMAN	epiplakin 1	1390						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGCACCTGGCTCGTCTGTGT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	27	25			NA	NA	8		NA											NA				144943253		2177	4268	6445	SO:0001583	missense			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150	83481	83481			15577	protein-coding gene	gene with protein product	epidermal autoantigen 450K	607553			NA	11278896, 15671067	Standard	NM_031308	NM_031308	NA	Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4169G>A	8.37:g.144943253C>T	ENSP00000436337:p.Ser1390Asn	NA	Q76E58	37		.	.	.	.	.	.	.	.	.	.	C	0.004	-2.287631	0.00248	.	.	ENSG00000227184	ENST00000525985	T	0.73152	-0.72	4.66	-2.64	0.06114	.	.	.	.	.	T	0.39462	0.1079	N	0.05383	-0.06	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16453	-1.0402	9	0.22706	T	0.39	.	0.3204	0.00302	0.2544:0.2566:0.2497:0.2394	.	1390	E9PPU0	.	N	1390	ENSP00000436337:S1390N	ENSP00000436337:S1390N	S	-	2	0	EPPK1	145015241	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.140000	0.16056	-0.376000	0.07943	-0.137000	0.14449	AGC	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000382675.1		-	ENST00000525985.1	Missense_Mutation	SNP	8 : 144943253 - 144943253 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	216	46
TCF20	6942	broad.mit.edu	37	22	42607439	42607439	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42607439G>A	ENST00000359486.3	-	1	4009	c.3873C>T	c.(3871-3873)ggC>ggT	p.G1291G	TCF20_ENST00000335626.4_Silent_p.G1291G	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTTTATCAGCGCCTTCTTTTG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	1,4405	2.1+/-5.4	0,1,2202	212	191	198		3873,3873	-4.6	0	22		198	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TCF20	NM_005650.1,NM_181492.1	,	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	,	1291/1961,1291/1939	42607439	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207	6942	6942			11631	protein-coding gene	gene with protein product	stromelysin-1 platelet-derived growth factor-responsive element binding protein	603107			NA	9730594, 10995766	Standard	NM_181492	NM_005650	NA	Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.3873C>T	22.37:g.42607439G>A		NA	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	37	CCDS14033.1																																																																																			TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320531.1		-	ENST00000359486.3	Silent	SNP	22 : 42607439 - 42607439 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	846	161
TRAF3IP1	26146	broad.mit.edu	37	2	239306183	239306183	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239306183G>T	ENST00000373327.4	+	16	1995	c.1773G>T	c.(1771-1773)caG>caT	p.Q591H	TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.Q591H|TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.Q525H	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	591	DISC1-interaction domain.					cytoplasm|cytoskeleton	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		CGTCCATCCAGACCCTGTGCA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	99	102			NA	NA	2		NA											NA				239306183		2203	4300	6503	SO:0001583	missense			AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104	26146	26146		Intraflagellar transport homologs	17861	protein-coding gene	gene with protein product	microtubule interacting protein that associates with TRAF3	607380			NA	10791955, 12935900	Standard	NM_015650	NM_015650	NA	Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.1773G>T	2.37:g.239306183G>T	ENSP00000362424:p.Gln591His	NA	Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	37	CCDS33415.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983062	0.93044	.	.	ENSG00000204104	ENST00000391993;ENST00000373327;ENST00000391994;ENST00000440998	T;T;T	0.59502	0.26;0.26;0.26	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.79941	0.4533	M	0.86097	2.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.83168	-0.0095	10	0.87932	D	0	-46.5263	19.0814	0.93185	0.0:0.0:1.0:0.0	.	525;591	Q8TDR0-2;Q8TDR0	.;MIPT3_HUMAN	H	525;591;591;525	ENSP00000375851:Q525H;ENSP00000362424:Q591H;ENSP00000375852:Q591H	ENSP00000362424:Q591H	Q	+	3	2	TRAF3IP1	238970922	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.262000	0.78410	2.514000	0.84764	0.655000	0.94253	CAG	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328312.1		+	ENST00000373327.4	Missense_Mutation	SNP	2 : 239306183 - 239306183 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	443	95
HERC2	8924	broad.mit.edu	37	15	28510973	28510973	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28510973C>T	ENST00000261609.7	-	13	1854	c.1746G>A	c.(1744-1746)cgG>cgA	p.R582R		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	582					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CATGGCCCAGCCGGCCGTAGT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	48	49			NA	NA	15		NA											NA				28510973		2203	4300	6503	SO:0001819	synonymous_variant			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731	8924	8924			4868	protein-coding gene	gene with protein product		605837	hect domain and RLD 2		NA	9949213	Standard	NM_004667	NM_004667	NA	Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.1746G>A	15.37:g.28510973C>T		NA	Q86SV7|Q86SV8|Q86SV9|Q86YY3|Q86YY4|Q86YY5|Q86YY6|Q86YY7|Q86YY8|Q86YY9|Q86YZ0|Q86YZ1	37	CCDS10021.1																																																																																			HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251358.2		-	ENST00000261609.7	Silent	SNP	15 : 28510973 - 28510973 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	374	62
CMYA5	202333	broad.mit.edu	37	5	79026860	79026860	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79026860A>G	ENST00000446378.2	+	2	2303	c.2272A>G	c.(2272-2274)Aca>Gca	p.T758A		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	758						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTCACCATCCACAACCGAAAA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	71	71			NA	NA	5		NA											NA				79026860		2021	4195	6216	SO:0001583	missense			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309	202333	202333		Tripartite motif containing / Tripartite motif containing, A-kinase anchor proteins, Fibronectin type III domain containing	14305	protein-coding gene	gene with protein product	genethonin-3, tripartite motif-containing 76	612193	chromosome 5 open reading frame 10	C5orf10	NA	14688250	Standard	NM_153610	NM_153610	NA	Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.2272A>G	5.37:g.79026860A>G	ENSP00000394770:p.Thr758Ala	NA	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	37	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	A	13.28	2.189741	0.38707	.	.	ENSG00000164309	ENST00000446378	T	0.38240	1.15	5.41	-3.34	0.04943	.	0.323199	0.22299	N	0.061897	T	0.26919	0.0659	L	0.58583	1.82	0.09310	N	1	B	0.17852	0.024	B	0.14023	0.01	T	0.17745	-1.0359	10	0.38643	T	0.18	.	7.2841	0.26328	0.2766:0.5002:0.2232:0.0	.	758	Q8N3K9	CMYA5_HUMAN	A	758	ENSP00000394770:T758A	ENSP00000394770:T758A	T	+	1	0	CMYA5	79062616	0.000000	0.05858	0.000000	0.03702	0.332000	0.28634	-0.654000	0.05354	-0.459000	0.07013	-0.263000	0.10527	ACA	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369497.1		+	ENST00000446378.2	Missense_Mutation	SNP	5 : 79026860 - 79026860 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	414	77
PTPRT	11122	broad.mit.edu	37	20	40739056	40739056	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40739056G>A	ENST00000373198.4	-	24	3463	c.3228C>T	c.(3226-3228)tgC>tgT	p.C1076C	PTPRT_ENST00000373187.1_Silent_p.C1057C|PTPRT_ENST00000373201.1_Silent_p.C1047C|PTPRT_ENST00000373193.3_Silent_p.C1060C|PTPRT_ENST00000373184.1_Silent_p.C1067C|PTPRT_ENST00000373190.1_Silent_p.C1056C|PTPRT_ENST00000356100.2_Silent_p.C1066C	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	NA	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CAGTGGCATAGCAGGGAACGC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	70	67			NA	NA	20		NA											NA				40739056		1974	4138	6112	SO:0001819	synonymous_variant			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090	11122	11122		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	9682	protein-coding gene	gene with protein product		608712			NA	9486824, 9602027	Standard		NM_133170	NA	Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373198.4:c.3228C>T	20.37:g.40739056G>A		NA	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	37																																																																																				PTPRT-005	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000080318.2		-	ENST00000373198.4	Silent	SNP	20 : 40739056 - 40739056 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	389	56
LYG1	129530	broad.mit.edu	37	2	99907721	99907721	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99907721G>A	ENST00000409448.1	-	6	628	c.312C>T	c.(310-312)ggC>ggT	p.G104G	LYG1_ENST00000308528.4_Silent_p.G104G			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	104					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						TAGTCCTATCGCCCATGTTGA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	135	145			NA	NA	2		NA											NA				99907721		2203	4300	6503	SO:0001819	synonymous_variant			BC029126	CCDS2043.1	2q11.2	2008-02-05			ENSG00000144214	ENSG00000144214	129530	129530			27014	protein-coding gene	gene with protein product					NA	12574869	Standard	NM_174898	NM_174898	NA	Approved	SALW1939	uc002szy.3	Q8N1E2	OTTHUMG00000130639	ENST00000409448.1:c.312C>T	2.37:g.99907721G>A		NA	Q53RV9	37	CCDS2043.1																																																																																			LYG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330315.1		-	ENST00000409448.1	Silent	SNP	2 : 99907721 - 99907721 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	426	106
PLD2	5338	broad.mit.edu	37	17	4725101	4725101	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4725101G>A	ENST00000263088.6	+	24	2607	c.2476G>A	c.(2476-2478)Gca>Aca	p.A826T	PLD2_ENST00000572940.1_Missense_Mutation_p.A815T	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	826					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GATTCTTGGAGCAAATACCCG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	112	112			NA	NA	17		NA											NA				4725101		2203	4300	6503	SO:0001583	missense			AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	5338	5338	3.1.4.4		9068	protein-coding gene	gene with protein product	choline phosphatase 2	602384			NA	9858823, 9582313	Standard	NM_002663	NM_002663	NA	Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.2476G>A	17.37:g.4725101G>A	ENSP00000263088:p.Ala826Thr	NA	O43540|O43579|O43580|Q6PGR0|Q96BY3	37	CCDS11057.1	.	.	.	.	.	.	.	.	.	.	g	12.89	2.073206	0.36566	.	.	ENSG00000129219	ENST00000263088	T	0.07021	3.23	4.84	4.84	0.62591	.	0.058029	0.64402	D	0.000002	T	0.12263	0.0298	M	0.70595	2.14	0.46874	D	0.999236	B;B	0.20550	0.046;0.017	B;B	0.22753	0.041;0.019	T	0.03463	-1.1034	10	0.27082	T	0.32	-14.3174	13.3112	0.60380	0.0:0.0:1.0:0.0	.	815;826	O14939-2;O14939	.;PLD2_HUMAN	T	826	ENSP00000263088:A826T	ENSP00000263088:A826T	A	+	1	0	PLD2	4672067	1.000000	0.71417	0.992000	0.48379	0.541000	0.35023	4.468000	0.60162	2.532000	0.85374	0.457000	0.33378	GCA	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207561.3		+	ENST00000263088.6	Missense_Mutation	SNP	17 : 4725101 - 4725101 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	753	133
SORCS1	114815	broad.mit.edu	37	10	108923970	108923970	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:108923970G>A	ENST00000263054.6	-	1	322	c.315C>T	c.(313-315)tcC>tcT	p.S105S	SORCS1_ENST00000344440.6_Silent_p.S105S	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	105						integral to membrane	neuropeptide receptor activity|protein binding	p.S105S(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCCTCCGGCCGGAGCGTGCAG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - coding silent(2)	endometrium(2)											17	18	18			NA	NA	10		NA											NA				108923970		2199	4297	6496	SO:0001819	synonymous_variant			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018	114815	114815			16697	protein-coding gene	gene with protein product		606283			NA	11499680	Standard	NM_052918	NM_001206570	NA	Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.315C>T	10.37:g.108923970G>A		NA	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	37	CCDS7559.1																																																																																			SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050232.4		-	ENST00000263054.6	Silent	SNP	10 : 108923970 - 108923970 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	196	42
GCH1	2643	broad.mit.edu	37	14	55326402	55326402	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55326402G>A	ENST00000536224.2	-	3	658	c.506C>T	c.(505-507)gCg>gTg	p.A169V	GCH1_ENST00000543643.2_Missense_Mutation_p.A169V|GCH1_ENST00000491895.2_Missense_Mutation_p.A169V|GCH1_ENST00000395514.1_Missense_Mutation_p.A169V|GCH1_ENST00000254299.4_5'UTR	NM_001024071.1	NP_001019242.1	P30793	GCH1_HUMAN	GTP cyclohydrolase 1	169					dopamine biosynthetic process|GTP catabolic process|neuromuscular process controlling posture|nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|protein homooligomerization|response to interferon-gamma|response to lipopolysaccharide|response to pain|response to tumor necrosis factor|tetrahydrobiopterin biosynthetic process|tetrahydrofolate biosynthetic process	cytoplasmic vesicle|cytosol|nuclear membrane|protein complex	GTP binding|GTP cyclohydrolase I activity|protein homodimerization activity|zinc ion binding	p.A169E(1)		endometrium(2)|lung(7)|skin(2)	11						CACTTACCTCGCAAGTTTGCT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(198;1245 2204 4807 21567 38372)							NA				1	Substitution - Missense(1)	endometrium(1)											125	108	114			NA	NA	14		NA											NA				55326402		2203	4300	6503	SO:0001583	missense			U19523	CCDS9720.1, CCDS41954.1, CCDS45110.1	14q22.1-q22.2	2014-04-01	2008-08-01		ENSG00000131979	ENSG00000131979	2643	2643	3.5.4.16		4193	protein-coding gene	gene with protein product	dopa-responsive dystonia	600225	dystonia 14	GCH, DYT5, DYT14	NA	7874165, 8695054	Standard		XM_005267530	NA	Approved	GTPCH1, DYT5a	uc001xbi.1	P30793	OTTHUMG00000029754	ENST00000536224.2:c.506C>T	14.37:g.55326402G>A	ENSP00000445246:p.Ala169Val	NA	Q6FHY7|Q9Y4I8	37	CCDS45110.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608521	0.87258	.	.	ENSG00000131979	ENST00000395514;ENST00000543643;ENST00000491895;ENST00000536224;ENST00000395524	D;D;D;D	0.99800	-6.8;-6.8;-6.8;-6.8	5.1	4.19	0.49359	GTP cyclohydrolase I/Nitrile oxidoreductase (1);	0.051000	0.85682	D	0.000000	D	0.99739	0.9897	M	0.85462	2.755	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.937;0.962	D	0.97246	0.9894	10	0.66056	D	0.02	.	14.7219	0.69314	0.0:0.1456:0.8544:0.0	.	169;169;169;169	F8W9F6;P30793-2;P30793-4;P30793	.;.;.;GCH1_HUMAN	V	169	ENSP00000378890:A169V;ENSP00000444011:A169V;ENSP00000419045:A169V;ENSP00000445246:A169V	ENSP00000378890:A169V	A	-	2	0	GCH1	54396152	1.000000	0.71417	0.870000	0.34147	0.796000	0.44982	9.203000	0.95033	1.339000	0.45563	0.561000	0.74099	GCG	GCH1-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000074215.2		-	ENST00000536224.2	Missense_Mutation	SNP	14 : 55326402 - 55326402 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	244	46
MS4A6A	64231	broad.mit.edu	37	11	59949188	59949188	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59949188G>A	ENST00000533023.1	-	2	80	c.13C>T	c.(13-15)Cct>Tct	p.P5S	MS4A6A_ENST00000412309.2_Missense_Mutation_p.P33S|MS4A6A_ENST00000532169.1_Missense_Mutation_p.P5S|MS4A6A_ENST00000529054.1_Missense_Mutation_p.P33S|MS4A6A_ENST00000420732.2_Missense_Mutation_p.P5S|MS4A6A_ENST00000530839.1_Missense_Mutation_p.P5S|MS4A6A_ENST00000528851.1_Missense_Mutation_p.P5S|MS4A6A_ENST00000323961.3_Missense_Mutation_p.P5S|MS4A6A_ENST00000426738.2_Missense_Mutation_p.P5S			Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	5						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGGGAACAGGTTGTGATGTC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													214	191	199			NA	NA	11		NA											NA				59949188		2201	4295	6496	SO:0001583	missense			AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077	64231	64231			13375	protein-coding gene	gene with protein product		606548		MS4A6	NA	11245982, 11401424	Standard		NM_152852	NA	Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000533023.1:c.13C>T	11.37:g.59949188G>A	ENSP00000436172:p.Pro5Ser	NA	A8K755|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	37		.	.	.	.	.	.	.	.	.	.	G	13.63	2.295355	0.40594	.	.	ENSG00000110077	ENST00000323961;ENST00000528851;ENST00000420732;ENST00000530839;ENST00000529054;ENST00000426738;ENST00000412309;ENST00000533023;ENST00000532169;ENST00000534596;ENST00000531531;ENST00000533409	T;T;T;T;T;T;T;T;T;T;T;T	0.80566	3.75;3.76;3.08;3.75;3.68;2.85;3.69;1.79;2.19;2.1;1.63;-1.39	4.83	0.376	0.16193	.	1.549850	0.03654	N	0.241465	D	0.86456	0.5937	M	0.61703	1.905	0.09310	N	1	B;D;B;D;B	0.71674	0.01;0.998;0.037;0.997;0.018	B;D;B;P;B	0.66979	0.015;0.948;0.025;0.888;0.028	T	0.67337	-0.5696	9	.	.	.	.	5.6964	0.17857	0.19:0.4038:0.4062:0.0	.	5;33;33;5;5	E7EMT7;F8W9K1;E9PSA9;Q9H2W1;Q9H2W1-3	.;.;.;M4A6A_HUMAN;.	S	5;5;5;5;33;5;33;5;5;33;33;5	ENSP00000315878:P5S;ENSP00000431901:P5S;ENSP00000392921:P5S;ENSP00000436979:P5S;ENSP00000435844:P33S;ENSP00000392770:P5S;ENSP00000403212:P33S;ENSP00000436172:P5S;ENSP00000431266:P5S;ENSP00000433436:P33S;ENSP00000433012:P33S;ENSP00000437152:P5S	.	P	-	1	0	MS4A6A	59705764	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.109000	0.15417	-0.094000	0.12374	-0.136000	0.14681	CCT	MS4A6A-014	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000394274.1		-	ENST00000533023.1	Missense_Mutation	SNP	11 : 59949188 - 59949188 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	939	156
SNX31	169166	broad.mit.edu	37	8	101624274	101624274	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101624274G>T	ENST00000311812.2	-	7	715	c.565C>A	c.(565-567)Ctt>Att	p.L189I	SNX31_ENST00000428383.2_Missense_Mutation_p.L90I	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	189					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			GAACTTCCAAGACTAACATAA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	89	90			NA	NA	8		NA											NA				101624274		2203	4300	6503	SO:0001583	missense				CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226	169166	169166		Sorting nexins	28605	protein-coding gene	gene with protein product					NA	16782399	Standard	NM_152628	NM_152628	NA	Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.565C>A	8.37:g.101624274G>T	ENSP00000312368:p.Leu189Ile	NA	C9J6L9|Q8N0U9	37	CCDS6288.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.310250	0.40895	.	.	ENSG00000174226	ENST00000311812;ENST00000428383;ENST00000520352	T;T;T	0.49139	2.17;1.81;0.79	5.92	5.92	0.95590	.	0.114287	0.37955	N	0.001861	T	0.40473	0.1118	L	0.49455	1.56	0.33742	D	0.619597	P;P	0.48503	0.778;0.911	B;B	0.37989	0.262;0.232	T	0.53215	-0.8470	10	0.20046	T	0.44	-13.6554	15.8344	0.78787	0.0:0.0:1.0:0.0	.	90;189	Q8N9S9-2;Q8N9S9	.;SNX31_HUMAN	I	189;90;123	ENSP00000312368:L189I;ENSP00000405024:L90I;ENSP00000428210:L123I	ENSP00000312368:L189I	L	-	1	0	SNX31	101693450	1.000000	0.71417	0.136000	0.22124	0.435000	0.31806	4.973000	0.63763	2.822000	0.97130	0.650000	0.86243	CTT	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379910.1		-	ENST00000311812.2	Missense_Mutation	SNP	8 : 101624274 - 101624274 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	327	50
PCDHA9	9752	broad.mit.edu	37	5	140242614	140242614	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140242614G>A	ENST00000532602.1	+	1	3427				PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|AC005609.1_ENST00000502505.1_Missense_Mutation_p.A121V|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_031857.1	NP_114063.1			protocadherin alpha 9	NA										breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCGCAACAGCTGCATCTGT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(55;1800 1972 14909)							NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001627	intron_variant			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961	9752	9752		Cadherins / Protocadherins : Clustered	8675	other	complex locus constituent	KIAA0345-like 5	606315			NA	10380929	Standard	NM_031857	NM_031857	NA	Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2394+12140G>A	5.37:g.140242614G>A		NA		37	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	7.848	0.723403	0.15439	.	.	ENSG00000249034	ENST00000502505	.	.	.	4.21	3.34	0.38264	.	.	.	.	.	T	0.43986	0.1272	.	.	.	0.80722	D	1	P	0.36412	0.552	B	0.37650	0.255	T	0.37174	-0.9717	7	0.51188	T	0.08	.	7.1177	0.25427	0.0883:0.0:0.7423:0.1694	.	121	Q8NB83	.	V	121	.	ENSP00000424817:A121V	A	-	2	0	AC005609.17	140222798	0.494000	0.26043	0.982000	0.44146	0.014000	0.08584	0.817000	0.27281	0.983000	0.38602	0.313000	0.20887	GCT	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372896.2		+	ENST00000532602.1	Intron	SNP	5 : 140242614 - 140242614 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	129	29
NPHP4	261734	broad.mit.edu	37	1	5964847	5964847	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:5964847C>T	ENST00000378156.4	-	16	2238	c.1973G>A	c.(1972-1974)cGa>cAa	p.R658Q	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	658					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TGATGTTCCTCGGCAGTCCTG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	117	117			NA	NA	1		NA											NA				5964847		2094	4225	6319	SO:0001583	missense			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697	261734	261734			19104	protein-coding gene	gene with protein product	nephroretinin, nephrocystin-4, POC10 centriolar protein homolog (Chlamydomonas)	607215			NA	11920287, 12205563	Standard		XR_244787	NA	Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.1973G>A	1.37:g.5964847C>T	ENSP00000367398:p.Arg658Gln	NA		37	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	C	8.122	0.781207	0.16120	.	.	ENSG00000131697	ENST00000378156;ENST00000378160	D	0.86865	-2.18	5.1	-1.94	0.07571	.	1.397130	0.04674	N	0.411192	T	0.64305	0.2586	N	0.02539	-0.55	0.09310	N	1	B	0.18741	0.03	B	0.09377	0.004	T	0.55798	-0.8084	10	0.10636	T	0.68	.	2.8422	0.05533	0.1131:0.4045:0.3466:0.1358	.	658	O75161	NPHP4_HUMAN	Q	658;61	ENSP00000367398:R658Q	ENSP00000367398:R658Q	R	-	2	0	NPHP4	5887434	0.000000	0.05858	0.000000	0.03702	0.910000	0.53928	-0.677000	0.05215	-0.771000	0.04608	0.655000	0.94253	CGA	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000001715.2		-	ENST00000378156.4	Missense_Mutation	SNP	1 : 5964847 - 5964847 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	548	49
COPB2	9276	broad.mit.edu	37	3	139097937	139097937	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:139097937G>A	ENST00000333188.5	-	4	488	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C	COPB2_ENST00000507777.1_Missense_Mutation_p.R74C|COPB2_ENST00000510491.1_5'UTR	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	103					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	p.R103C(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						GCAATACAGCGAATGTAGTCT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											124	116	119			NA	NA	3		NA											NA				139097937		2203	4300	6503	SO:0001583	missense			BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432	9276	9276		WD repeat domain containing	2232	protein-coding gene	gene with protein product		606990			NA	9858824	Standard	NM_004766	NM_004766	NA	Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.307C>T	3.37:g.139097937G>A	ENSP00000329419:p.Arg103Cys	NA		37	CCDS3108.1	.	.	.	.	.	.	.	.	.	.	G	31	5.085074	0.94100	.	.	ENSG00000184432	ENST00000333188;ENST00000507777;ENST00000515006;ENST00000512153;ENST00000513274;ENST00000512242;ENST00000514508	T;T;D;T;T;T;D	0.81821	0.06;0.06;-1.54;0.06;0.06;0.06;-1.54	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.90703	0.7083	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91052	0.4879	10	0.87932	D	0	-21.7541	20.0639	0.97700	0.0:0.0:1.0:0.0	.	103;103	B4E2C9;P35606	.;COPB2_HUMAN	C	103;74;103;74;74;74;74	ENSP00000329419:R103C;ENSP00000422295:R74C;ENSP00000423271:R103C;ENSP00000422547:R74C;ENSP00000424144:R74C;ENSP00000427185:R74C;ENSP00000422469:R74C	ENSP00000329419:R103C	R	-	1	0	COPB2	140580627	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.639000	0.98448	2.817000	0.96982	0.557000	0.71058	CGC	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358495.2		-	ENST00000333188.5	Missense_Mutation	SNP	3 : 139097937 - 139097937 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	53
ICAM5	7087	broad.mit.edu	37	19	10406086	10406086	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10406086C>T	ENST00000221980.4	+	10	2358	c.2295C>T	c.(2293-2295)ttC>ttT	p.F765F		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	765	Ig-like C2-type 9.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GAGGAAACTTCACGTTGACCT	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	15	14			NA	NA	19		NA											NA				10406086		2152	4271	6423	SO:0001819	synonymous_variant			U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376	7087	7087		Immunoglobulin superfamily / Immunoglobulin-like domain containing	5348	protein-coding gene	gene with protein product	telencephalin	601852		TLCN	NA	8995416, 9828136	Standard	NM_003259	NM_003259	NA	Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.2295C>T	19.37:g.10406086C>T		NA	Q9Y6F3	37	CCDS12233.1																																																																																			ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451217.1		+	ENST00000221980.4	Silent	SNP	19 : 10406086 - 10406086 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	160	11
IRX5	10265	broad.mit.edu	37	16	54967479	54967479	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:54967479G>A	ENST00000560154.1	+	3	486	c.486G>A	c.(484-486)ccG>ccA	p.P162P	IRX5_ENST00000394636.4_Silent_p.P382P|IRX5_ENST00000320990.5_Silent_p.P381P|IRX5_ENST00000558597.1_Silent_p.P316P			P78411	IRX5_HUMAN	iroquois homeobox 5	382					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CCCCGGCGCCGTCACGCTCGC	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													10	12	11			NA	NA	16		NA											NA				54967479		2165	4241	6406	SO:0001819	synonymous_variant			U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842	10265	10265		Homeoboxes / TALE class	14361	protein-coding gene	gene with protein product		606195			NA		Standard		NM_005853	NA	Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000560154.1:c.486G>A	16.37:g.54967479G>A		NA	P78416|Q7Z2E1	37																																																																																				IRX5-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000417440.1		+	ENST00000560154.1	Silent	SNP	16 : 54967479 - 54967479 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	144	29
MUC5B	727897	broad.mit.edu	37	11	1251032	1251032	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1251032C>T	ENST00000529681.1	+	10	1273	c.1215C>T	c.(1213-1215)agC>agT	p.S405S	MUC5B_ENST00000447027.1_Silent_p.S408S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	405					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACCTGCAGCTCCTGGTACT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	22	21			NA	NA	11		NA											NA				1251032		2091	4194	6285	SO:0001819	synonymous_variant			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983	727897	727897		Mucins	7516	protein-coding gene	gene with protein product		600770	mucin 5, subtype B, tracheobronchial	MUC5	NA	9804771	Standard	XM_001126093	NM_002458	NA	Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.1215C>T	11.37:g.1251032C>T		NA	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	37	CCDS44515.2																																																																																			MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390041.2		+	ENST00000529681.1	Silent	SNP	11 : 1251032 - 1251032 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	69	10
PPOX	5498	broad.mit.edu	37	1	161138934	161138934	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161138934G>A	ENST00000367999.4	+	7	1034	c.768G>A	c.(766-768)ccG>ccA	p.P256P	PPOX_ENST00000352210.5_Silent_p.P256P|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000535223.1_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	256			P -> R (in dbSNP:rs12735723).		heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GAGGCCAGCCGGTCTGTGGGC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	53	52			NA	NA	1		NA											NA				161138934		2203	4300	6503	SO:0001819	synonymous_variant			BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	5498	5498	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	variegate porphyria	VP	NA	8575762, 10457135	Standard	NM_000309	NM_000309	NA	Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.768G>A	1.37:g.161138934G>A		NA	D3DVG0|Q5VTW8	37	CCDS1221.1	.	.	.	.	.	.	.	.	.	.	G	7.547	0.661927	0.14645	.	.	ENSG00000143224	ENST00000537523	.	.	.	5.57	-4.96	0.03038	.	.	.	.	.	T	0.19287	0.0463	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43196	-0.9406	4	.	.	.	-20.6534	0.8689	0.01210	0.3306:0.1025:0.2661:0.3009	.	.	.	.	Q	69	.	.	R	+	2	0	PPOX	159405558	0.069000	0.21087	0.445000	0.26908	0.743000	0.42351	-0.901000	0.04093	-0.469000	0.06911	-0.937000	0.02696	CGG	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000082993.1		+	ENST00000367999.4	Silent	SNP	1 : 161138934 - 161138934 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	394	80
COL5A1	1289	broad.mit.edu	37	9	137653790	137653790	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137653790G>A	ENST00000371817.3	+	19	2369	c.1955G>A	c.(1954-1956)gGc>gAc	p.G652D		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	652	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGTCCTTCCGGCCCACCAGGA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	102	105			NA	NA	9		NA											NA				137653790		2203	4300	6503	SO:0001583	missense			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635	1289	1289		Collagens	2209	protein-coding gene	gene with protein product	alpha 1 type V collagen	120215			NA	1572660	Standard	NM_000093	NM_001278074	NA	Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1955G>A	9.37:g.137653790G>A	ENSP00000360882:p.Gly652Asp	NA	Q15094|Q5SUX4	37	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	g	13.39	2.223112	0.39300	.	.	ENSG00000130635	ENST00000371817	D	0.99619	-6.28	4.53	4.53	0.55603	.	0.154112	0.42294	U	0.000725	D	0.99764	0.9904	H	0.98133	4.155	0.51767	D	0.999933	D	0.89917	1.0	D	0.79108	0.992	D	0.97090	0.9790	10	0.87932	D	0	.	12.7642	0.57383	0.0:0.0:1.0:0.0	.	652	P20908	CO5A1_HUMAN	D	652	ENSP00000360882:G652D	ENSP00000360882:G652D	G	+	2	0	COL5A1	136793611	1.000000	0.71417	0.993000	0.49108	0.371000	0.29859	6.552000	0.73914	2.067000	0.61834	0.556000	0.70494	GGC	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054954.2		+	ENST00000371817.3	Missense_Mutation	SNP	9 : 137653790 - 137653790 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	357	79
NFATC1	4772	broad.mit.edu	37	18	77170796	77170796	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77170796C>T	ENST00000587635.1	+	2	615	c.521C>T	c.(520-522)gCc>gTc	p.A174V	NFATC1_ENST00000591814.1_Missense_Mutation_p.A174V|NFATC1_ENST00000542384.1_Missense_Mutation_p.A174V|NFATC1_ENST00000592223.1_Missense_Mutation_p.A161V|NFATC1_ENST00000427363.2_Missense_Mutation_p.A174V|NFATC1_ENST00000586434.1_Missense_Mutation_p.A161V|NFATC1_ENST00000253506.5_Missense_Mutation_p.A174V|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000318065.5_Missense_Mutation_p.A161V|NFATC1_ENST00000329101.4_Missense_Mutation_p.A161V			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	174	Trans-activation domain A (TAD-A).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CTGAGCCCGGCCAGCAGCCTG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(151;1210 2593 28719 45011)							NA				0													40	44	43			NA	NA	18		NA											NA				77170796		2203	4299	6502	SO:0001583	missense			U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196	4772	4772		Nuclear factor of activated T-cells	7775	protein-coding gene	gene with protein product		600489			NA	8202141	Standard	NM_172390	NM_001278669	NA	Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000587635.1:c.521C>T	18.37:g.77170796C>T	ENSP00000468111:p.Ala174Val	NA	Q12865|Q15793	37		.	.	.	.	.	.	.	.	.	.	C	27.9	4.877003	0.91664	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T	0.78816	-1.21;-1.21;-1.21	4.46	4.46	0.54185	.	0.057048	0.64402	D	0.000001	D	0.88130	0.6354	M	0.80422	2.495	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.994;0.994;0.997;0.999;0.999;0.999;0.994	P;P;D;D;D;D;P	0.71184	0.856;0.856;0.917;0.972;0.972;0.972;0.856	D	0.90098	0.4182	10	0.72032	D	0.01	-31.3227	17.2844	0.87137	0.0:1.0:0.0:0.0	.	161;161;174;174;174;161;174	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	V	174;174;174;161;161;138	ENSP00000253506:A174V;ENSP00000442435:A174V;ENSP00000327850:A161V	ENSP00000253506:A174V	A	+	2	0	NFATC1	75271784	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.039000	0.76544	2.293000	0.77203	0.561000	0.74099	GCC	NFATC1-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000450505.1		+	ENST00000587635.1	Missense_Mutation	SNP	18 : 77170796 - 77170796 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	472	90
COL4A1	1282	broad.mit.edu	37	13	110828977	110828977	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:110828977C>A	ENST00000375820.4	-	35	3085	c.2964G>T	c.(2962-2964)caG>caT	p.Q988H		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	988	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTGTACCTGGCTGCCCAGGCT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	50	50			NA	NA	13		NA											NA				110828977		2203	4300	6503	SO:0001583	missense			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498	1282	1282		Collagens	2202	protein-coding gene	gene with protein product		120130			NA	3691802	Standard		NM_001845	NA	Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.2964G>T	13.37:g.110828977C>A	ENSP00000364979:p.Gln988His	NA	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	37	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.356882	0.24598	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.93189	-3.18	5.77	2.26	0.28386	.	0.185825	0.47852	N	0.000214	D	0.88987	0.6587	L	0.41124	1.26	0.80722	D	1	B	0.32302	0.363	B	0.42882	0.401	T	0.79438	-0.1803	10	0.15066	T	0.55	.	4.4167	0.11459	0.311:0.485:0.0:0.204	.	988	P02462	CO4A1_HUMAN	H	631;988;637	ENSP00000364979:Q988H	ENSP00000364973:Q631H	Q	-	3	2	COL4A1	109626978	0.002000	0.14202	1.000000	0.80357	0.155000	0.21991	-1.685000	0.01930	0.803000	0.34113	-0.182000	0.12963	CAG	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045759.3		-	ENST00000375820.4	Missense_Mutation	SNP	13 : 110828977 - 110828977 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	291	44
TAF6L	10629	broad.mit.edu	37	11	62549675	62549675	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62549675C>T	ENST00000294168.3	+	8	898	c.697C>T	c.(697-699)Ccc>Tcc	p.P233S	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	233					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						GTGCTTGGGGCCCTATGTCCG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	91	92			NA	NA	11		NA											NA				62549675		2201	4299	6500	SO:0001583	missense			BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227	10629	10629			17305	protein-coding gene	gene with protein product		602946	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD		NA	9674425	Standard	NM_006473	NM_006473	NA	Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.697C>T	11.37:g.62549675C>T	ENSP00000294168:p.Pro233Ser	NA	B2RAT0|Q96HA6	37	CCDS8035.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087988	0.36855	.	.	ENSG00000162227	ENST00000294168	T	0.68331	-0.32	5.4	5.4	0.78164	.	0.140716	0.49916	D	0.000139	T	0.49795	0.1578	N	0.24115	0.695	0.80722	D	1	B	0.21071	0.051	B	0.16722	0.016	T	0.43147	-0.9409	10	0.30078	T	0.28	-26.0172	9.9712	0.41754	0.0:0.9109:0.0:0.0891	.	233	Q9Y6J9	TAF6L_HUMAN	S	233	ENSP00000294168:P233S	ENSP00000294168:P233S	P	+	1	0	TAF6L	62306251	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	3.654000	0.54453	2.813000	0.96785	0.561000	0.74099	CCC	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395352.1		+	ENST00000294168.3	Missense_Mutation	SNP	11 : 62549675 - 62549675 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	613	109
MACF1	23499	broad.mit.edu	37	1	39785375	39785375	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39785375G>A	ENST00000372915.3	+	30	4087	c.4000G>A	c.(4000-4002)Gat>Aat	p.D1334N	MACF1_ENST00000545844.1_Missense_Mutation_p.D1334N|MACF1_ENST00000317713.7_Missense_Mutation_p.D1334N|MACF1_ENST00000361689.2_Missense_Mutation_p.D1334N|MACF1_ENST00000564288.1_Missense_Mutation_p.D1329N|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000567887.1_Missense_Mutation_p.D1366N|MACF1_ENST00000539005.1_Missense_Mutation_p.D1334N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1334					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GACAAAACTGGATCAATGTCA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	114	115			NA	NA	1		NA											NA				39785375		2203	4300	6503	SO:0001583	missense			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603	23499	23499		EF-hand domain containing	13664	protein-coding gene	gene with protein product	actin cross-linking factor, 620 kDa actin binding protein, macrophin 1, trabeculin-alpha, actin cross-linking family protein 7	608271			NA	7635207, 10529403	Standard	NM_033044	NM_012090	NA	Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.4000G>A	1.37:g.39785375G>A	ENSP00000362006:p.Asp1334Asn	NA	E9PJT0|O75053|Q5VW20|Q8WXY2|Q9H540|Q9UKP0|Q9ULG9	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.348761|4.348761	0.82132|0.82132	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262|ENST00000372925	T;T;T;T;T;T;T|.	0.36520|.	1.25;1.25;1.25;1.25;1.25;1.25;1.25|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|.	.|.	.|.	.|.	T|T	0.70254|0.70254	0.3203|0.3203	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	D;D;P|.	0.76494|.	0.999;0.96;0.851|.	D;P;P|.	0.69479|.	0.964;0.737;0.493|.	T|T	0.64795|0.64795	-0.6323|-0.6323	9|5	0.87932|.	D|.	0|.	.|.	20.0165|20.0165	0.97478|0.97478	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1334;1334;1299|.	F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	.;.;.|.	N|E	1334;1334;1334;1334;1334;1292;1483|467	ENSP00000439537:D1334N;ENSP00000362006:D1334N;ENSP00000354573:D1334N;ENSP00000313438:D1334N;ENSP00000444364:D1334N;ENSP00000435070:D1292N;ENSP00000437059:D1483N|.	ENSP00000313438:D1334N|.	D|G	+|+	1|2	0|0	MACF1|MACF1	39557962|39557962	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	8.007000|8.007000	0.88571|0.88571	2.740000|2.740000	0.93945|0.93945	0.455000|0.455000	0.32223|0.32223	GAT|GGA	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000392096.1		+	ENST00000372915.3	Missense_Mutation	SNP	1 : 39785375 - 39785375 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	360	41
RNF8	9025	broad.mit.edu	37	6	37348968	37348968	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:37348968A>G	ENST00000373479.4	+	7	1472	c.1279A>G	c.(1279-1281)Atc>Gtc	p.I427V	RNF8_ENST00000469731.1_Intron	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	427					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						CTCCTACTGTATCAATGAATG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	144	147			NA	NA	6		NA											NA				37348968		2203	4300	6503	SO:0001583	missense			AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130	9025	9025		RING-type (C3HC4) zinc fingers	10071	protein-coding gene	gene with protein product		611685	ring finger protein (C3HC4 type) 8, ring finger protein 8		NA	9734811, 9852682	Standard		NM_003958	NA	Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.1279A>G	6.37:g.37348968A>G	ENSP00000362578:p.Ile427Val	NA	A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	37	CCDS4834.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.804781	0.90623	.	.	ENSG00000112130	ENST00000373479	T	0.73258	-0.73	5.98	5.98	0.97165	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.71745	0.3376	L	0.33710	1.025	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.74535	-0.3633	10	0.48119	T	0.1	-7.7491	15.6539	0.77118	1.0:0.0:0.0:0.0	.	427	O76064	RNF8_HUMAN	V	427	ENSP00000362578:I427V	ENSP00000362578:I427V	I	+	1	0	RNF8	37456946	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.339000	0.96797	2.296000	0.77279	0.482000	0.46254	ATC	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040403.2		+	ENST00000373479.4	Missense_Mutation	SNP	6 : 37348968 - 37348968 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	752	138
CCDC151	115948	broad.mit.edu	37	19	11534583	11534583	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11534583C>T	ENST00000591179.1	-	6	1003	c.899G>A	c.(898-900)gGc>gAc	p.G300D	CCDC151_ENST00000545100.1_Missense_Mutation_p.G306D|CCDC151_ENST00000356392.4_Missense_Mutation_p.G360D|CCDC151_ENST00000586836.1_Missense_Mutation_p.G169D			A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	360										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CTTGACCTTGCCAAAGATCAC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	84	82			NA	NA	19		NA											NA				11534583		2181	4270	6451	SO:0001583	missense				CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003	115948	115948			28303	protein-coding gene	gene with protein product		615956			NA	24067530	Standard	NM_145045	NM_145045	NA	Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000591179.1:c.899G>A	19.37:g.11534583C>T	ENSP00000466800:p.Gly300Asp	NA	Q96CG5	37		.	.	.	.	.	.	.	.	.	.	C	6.622	0.483272	0.12581	.	.	ENSG00000198003	ENST00000545100;ENST00000356392;ENST00000543934	D;D	0.85258	-1.96;-1.96	4.24	1.98	0.26296	.	0.451517	0.22002	N	0.065987	T	0.68851	0.3046	N	0.22421	0.69	0.30711	N	0.749307	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.55964	-0.8057	10	0.14252	T	0.57	-22.3144	5.0199	0.14356	0.0:0.639:0.0:0.361	.	360;360;340	B3KPH7;A5D8V7;B4DG09	.;CC151_HUMAN;.	D	306;360;339	ENSP00000442987:G306D;ENSP00000348757:G360D	ENSP00000348757:G360D	G	-	2	0	CCDC151	11395583	0.890000	0.30428	0.934000	0.37439	0.953000	0.61014	0.280000	0.18790	0.995000	0.38917	-0.424000	0.05967	GGC	CCDC151-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000458803.1		-	ENST00000591179.1	Missense_Mutation	SNP	19 : 11534583 - 11534583 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	555	24
STRN4	29888	broad.mit.edu	37	19	47228837	47228837	+	Silent	SNP	G	G	A	rs145271240	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47228837G>A	ENST00000391910.3	-	10	1788	c.1338C>T	c.(1336-1338)gaC>gaT	p.D446D	STRN4_ENST00000263280.6_Silent_p.D439D|STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000539396.1_Silent_p.D320D			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	439						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		AACGAATGCCGTCGTAGTGCG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	9,4397	15.5+/-35.6	0,9,2194	97	95	96		1338,1317	-8.3	0.4	19	dbSNP_134	96	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	STRN4	NM_001039877.1,NM_013403.2	,	0,9,6494	AA,AG,GG	NA	0.0,0.2043,0.0692	,	446/761,439/754	47228837	9,12997	2203	4300	6503	SO:0001819	synonymous_variant			AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372	29888	29888		WD repeat domain containing	15721	protein-coding gene	gene with protein product		614767			NA	10748158	Standard		XM_006723171	NA	Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000391910.3:c.1338C>T	19.37:g.47228837G>A		NA	Q8NE53	37	CCDS42581.1																																																																																			STRN4-002	KNOWN	NMD_exception|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466606.2		-	ENST00000391910.3	Silent	SNP	19 : 47228837 - 47228837 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	273	28
PNISR	25957	broad.mit.edu	37	6	99852519	99852519	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99852519A>C	ENST00000369239.5	-	9	1266	c.1062T>G	c.(1060-1062)atT>atG	p.I354M	PNISR_ENST00000438806.1_Missense_Mutation_p.I354M	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	354						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						CTACGTAATAAATTTCTTCAT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	117	118			NA	NA	6		NA											NA				99852519		2203	4300	6503	SO:0001583	missense			AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424	25957	25957			21222	protein-coding gene	gene with protein product			chromosome 6 open reading frame 111, splicing factor, arginine/serine-rich 18	C6orf111, SFRS18	NA	14578391	Standard	NM_032870	NM_032870	NA	Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.1062T>G	6.37:g.99852519A>C	ENSP00000358242:p.Ile354Met	NA	A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	37	CCDS5043.1	.	.	.	.	.	.	.	.	.	.	A	14.56	2.572816	0.45798	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	T;T	0.43294	0.95;0.95	5.44	2.93	0.34026	.	0.000000	0.85682	D	0.000000	T	0.42404	0.1201	M	0.65677	2.01	0.58432	D	0.999999	D	0.76494	0.999	D	0.80764	0.994	T	0.39901	-0.9591	10	0.48119	T	0.1	.	4.4351	0.11547	0.6821:0.1275:0.0683:0.1221	.	354	Q8TF01	PNISR_HUMAN	M	354	ENSP00000358242:I354M;ENSP00000387997:I354M	ENSP00000358242:I354M	I	-	3	3	PNISR	99959240	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	2.715000	0.47210	0.318000	0.23185	-0.332000	0.08345	ATT	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041598.1		-	ENST00000369239.5	Missense_Mutation	SNP	6 : 99852519 - 99852519 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	310	51
ZFP64	55734	broad.mit.edu	37	20	50769195	50769195	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50769195G>A	ENST00000216923.4	-	6	1885	c.1536C>T	c.(1534-1536)gtC>gtT	p.V512V	ZFP64_ENST00000371515.4_Silent_p.V510V|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000346617.4_Silent_p.V458V|ZFP64_ENST00000361387.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CGGCAGCCTGGACGATGGTGT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	25	24			NA	NA	20		NA											NA				50769195		2202	4300	6502	SO:0001819	synonymous_variant			AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256	55734	55734		Zinc fingers, C2H2-type	15940	protein-coding gene	gene with protein product			zinc finger protein 338, zinc finger protein 64 homolog (mouse), zinc finger protein 64	ZNF338	NA	9034307	Standard	NM_018197	NM_199427	NA	Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1536C>T	20.37:g.50769195G>A		NA	Q9NTS7|Q9NVH4	37	CCDS13440.1																																																																																			ZFP64-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079744.1		-	ENST00000216923.4	Silent	SNP	20 : 50769195 - 50769195 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	236	37
SCN5A	6331	broad.mit.edu	37	3	38639378	38639378	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38639378G>A	ENST00000455624.2	-	13	2128	c.2104C>T	c.(2104-2106)Ctg>Ttg	p.L702L	SCN5A_ENST00000450102.2_Silent_p.L702L|SCN5A_ENST00000451551.2_Silent_p.L702L|SCN5A_ENST00000413689.1_Silent_p.L702L|SCN5A_ENST00000425664.1_Silent_p.L702L|SCN5A_ENST00000443581.1_Silent_p.L702L|SCN5A_ENST00000423572.2_Silent_p.L702L|SCN5A_ENST00000414099.2_Silent_p.L702L|SCN5A_ENST00000333535.4_Silent_p.L702L|SCN5A_ENST00000449557.2_Silent_p.L702L			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	702					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GACATCCACAGCGGGCAGCAC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	135	134			NA	NA	3		NA											NA				38639378		2147	4255	6402	SO:0001819	synonymous_variant			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873	6331	6331		Sodium channels, Voltage-gated ion channels / Sodium channels	10593	protein-coding gene	gene with protein product	long QT syndrome 3	600163	sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	CMD1E	NA	7842012, 15466643, 16382098	Standard	NM_198056	NM_198056	NA	Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000455624.2:c.2104C>T	3.37:g.38639378G>A		NA	A5H1P8|A6N922|A6N923|B2RTU0|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	37	CCDS54570.1																																																																																			SCN5A-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343215.2		-	ENST00000455624.2	Silent	SNP	3 : 38639378 - 38639378 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	469	12
PPFIA2	8499	broad.mit.edu	37	12	81660794	81660794	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81660794C>A	ENST00000550584.2	-	29	3787	c.3492G>T	c.(3490-3492)agG>agT	p.R1164S	PPFIA2_ENST00000407050.4_Missense_Mutation_p.R1063S|PPFIA2_ENST00000541017.1_Missense_Mutation_p.R350S|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R1149S|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R1158S|PPFIA2_ENST00000549396.1_Missense_Mutation_p.R1164S|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R1011S|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R1152S|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R1143S|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R1059S|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541570.2_Missense_Mutation_p.R700S	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1063										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CAAGAATCTGCCTTGCCTGTT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	97	100			NA	NA	12		NA											NA				81660794		1840	4088	5928	SO:0001583	missense			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10					8499	8499		Sterile alpha motif (SAM) domain containing	9246	protein-coding gene	gene with protein product	Liprin-alpha2	603143			NA	9624153	Standard		NM_003625	NA	Approved		uc031qis.1	O75334		ENST00000550584.2:c.3492G>T	12.37:g.81660794C>A	ENSP00000449558:p.Arg1164Ser	NA	E7ERB8	37	CCDS59236.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485167	0.63962	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	D;D;D;D;D;D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79;-2.79;-2.79;-2.79;-2.79;-2.79	5.37	2.16	0.27623	.	0.235047	0.29830	N	0.011096	D	0.95582	0.8564	H	0.95187	3.635	0.51482	D	0.999923	.	.	.	.	.	.	D	0.94882	0.8040	8	0.72032	D	0.01	-0.6131	9.5769	0.39463	0.0:0.6552:0.0:0.3448	.	.	.	.	S	1164;1149;700;350;1063;1177;1152;1158;1059;1143	ENSP00000450337:R1164S;ENSP00000450298:R1149S;ENSP00000438337:R700S;ENSP00000445532:R350S;ENSP00000385093:R1063S;ENSP00000327416:R1152S;ENSP00000449338:R1158S;ENSP00000388373:R1059S;ENSP00000447868:R1143S	ENSP00000327416:R1152S	R	-	3	2	PPFIA2	80184925	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	0.425000	0.21346	0.658000	0.30925	0.563000	0.77884	AGG	PPFIA2-002	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408031.2		-	ENST00000550584.2	Missense_Mutation	SNP	12 : 81660794 - 81660794 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	128	25
FREM2	341640	broad.mit.edu	37	13	39265074	39265074	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39265074T>G	ENST00000280481.7	+	1	3809	c.3593T>G	c.(3592-3594)tTt>tGt	p.F1198C		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1198					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATGAGAGAATTTATGGTGATG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													249	237	241			NA	NA	13		NA											NA				39265074		2203	4300	6503	SO:0001583	missense			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893	341640	341640			25396	protein-coding gene	gene with protein product		608945			NA	15345741	Standard	NM_207361	NM_207361	NA	Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.3593T>G	13.37:g.39265074T>G	ENSP00000280481:p.Phe1198Cys	NA	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	T	17.69	3.452837	0.63290	.	.	ENSG00000150893	ENST00000280481	T	0.51325	0.71	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.72684	0.3491	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.77973	-0.2386	10	0.87932	D	0	.	16.6438	0.85155	0.0:0.0:0.0:1.0	.	1198	Q5SZK8	FREM2_HUMAN	C	1198	ENSP00000280481:F1198C	ENSP00000280481:F1198C	F	+	2	0	FREM2	38163074	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.036000	0.88901	2.333000	0.79357	0.533000	0.62120	TTT	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044599.2		+	ENST00000280481.7	Missense_Mutation	SNP	13 : 39265074 - 39265074 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1399	263
SYCE2	256126	broad.mit.edu	37	19	13015452	13015452	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13015452C>A	ENST00000293695.7	-	3	178	c.160G>T	c.(160-162)Ggg>Tgg	p.G54W	SYCE2_ENST00000591229.1_5'UTR	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	54					cell division	central element				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						CCCGACTTCCCTTCCAGGACC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	141	140			NA	NA	19		NA											NA				13015452		2157	4274	6431	SO:0001583	missense			AK097443	CCDS42509.1	19p13.13	2008-02-05				ENSG00000161860	256126	256126			27411	protein-coding gene	gene with protein product	central element synaptonemal complex 1	611487			NA	15944401	Standard	XM_497609	NM_001105578	NA	Approved	CESC1	uc002mvr.2	Q6PIF2		ENST00000293695.7:c.160G>T	19.37:g.13015452C>A	ENSP00000293695:p.Gly54Trp	NA	B4DYD3	37	CCDS42509.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229193	0.58777	.	.	ENSG00000161860	ENST00000293695	.	.	.	4.55	4.55	0.56014	.	0.566735	0.15904	N	0.238906	T	0.53932	0.1827	L	0.36672	1.1	0.28317	N	0.922397	D	0.89917	1.0	D	0.97110	1.0	T	0.48317	-0.9046	9	0.87932	D	0	0.0377	12.6762	0.56895	0.0:1.0:0.0:0.0	.	54	Q6PIF2	SYCE2_HUMAN	W	54	.	ENSP00000293695:G54W	G	-	1	0	SYCE2	12876452	0.984000	0.35163	0.999000	0.59377	0.764000	0.43329	1.881000	0.39638	2.353000	0.79882	0.462000	0.41574	GGG	SYCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451913.1		-	ENST00000293695.7	Missense_Mutation	SNP	19 : 13015452 - 13015452 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	696	24
TMEM175	84286	broad.mit.edu	37	4	947071	947071	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:947071C>A	ENST00000264771.4	+	8	741	c.556C>A	c.(556-558)Ctg>Atg	p.L186M	TMEM175_ENST00000515740.1_Missense_Mutation_p.L70M|TMEM175_ENST00000508204.1_Missense_Mutation_p.L104M|TMEM175_ENST00000504180.1_3'UTR	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	186						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ACGACACGTCCTGGGCATCGT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	108	115			NA	NA	4		NA											NA				947071		2203	4300	6503	SO:0001583	missense			BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419	84286	84286			28709	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_032326	XM_005272301	NA	Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.556C>A	4.37:g.947071C>A	ENSP00000264771:p.Leu186Met	NA	D3DVN4|Q8ND13	37	CCDS3341.1	.	.	.	.	.	.	.	.	.	.	c	13.73	2.323824	0.41096	.	.	ENSG00000127419	ENST00000264771;ENST00000514453;ENST00000515492;ENST00000359768;ENST00000509508;ENST00000515740;ENST00000508204;ENST00000510493	T;T;T;T	0.56275	1.16;0.47;0.79;0.54	4.93	3.94	0.45596	.	0.000000	0.64402	D	0.000010	T	0.63010	0.2475	M	0.65498	2.005	0.42111	D	0.991389	D;D;D	0.76494	0.991;0.983;0.999	P;P;D	0.67231	0.863;0.863;0.95	T	0.64791	-0.6324	10	0.52906	T	0.07	-0.6814	5.3876	0.16226	0.0:0.8163:0.0:0.1837	.	104;186;104	D6RBE5;Q9BSA9;B3KR27	.;TM175_HUMAN;.	M	186;173;104;104;92;70;104;104	ENSP00000264771:L186M;ENSP00000425181:L173M;ENSP00000427039:L70M;ENSP00000423669:L104M	ENSP00000264771:L186M	L	+	1	2	TMEM175	937071	1.000000	0.71417	0.664000	0.29753	0.013000	0.08279	1.546000	0.36179	2.273000	0.75805	0.574000	0.79327	CTG	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239193.2		+	ENST00000264771.4	Missense_Mutation	SNP	4 : 947071 - 947071 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	297	57
SLC1A2	6506	broad.mit.edu	37	11	35338932	35338932	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:35338932G>A	ENST00000278379.3	-	2	431	c.149C>T	c.(148-150)aCg>aTg	p.T50M	SLC1A2_ENST00000395750.1_Missense_Mutation_p.T41M|SLC1A2_ENST00000606205.1_Missense_Mutation_p.T50M|SLC1A2_ENST00000395753.1_Missense_Mutation_p.T41M	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	50				T -> Q (in Ref. 2; AAA18900).	D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	ACCAAACACCGTCAGGGTGAG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)							NA				0													86	84	85			NA	NA	11		NA											NA				35338932		2202	4298	6500	SO:0001583	missense			AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436	6506	6506		Solute carriers	10940	protein-coding gene	gene with protein product		600300			NA	1448170	Standard	NM_004171	NM_004171	NA	Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.149C>T	11.37:g.35338932G>A	ENSP00000278379:p.Thr50Met	NA	Q14417|Q541G6	37	CCDS31459.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863853	0.71949	.	.	ENSG00000110436	ENST00000278379;ENST00000395750;ENST00000395753;ENST00000449068	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	4.94	4.94	0.65067	.	0.146157	0.64402	D	0.000009	T	0.78181	0.4243	M	0.81614	2.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.981;1.0	T	0.82026	-0.0661	10	0.87932	D	0	-16.1262	18.1904	0.89805	0.0:0.0:1.0:0.0	.	50;50	B4DQE9;P43004	.;EAA2_HUMAN	M	50;41;41;46	ENSP00000278379:T50M;ENSP00000379099:T41M;ENSP00000379102:T41M;ENSP00000406133:T46M	ENSP00000278379:T50M	T	-	2	0	SLC1A2	35295508	1.000000	0.71417	0.941000	0.38009	0.422000	0.31414	9.750000	0.98875	2.286000	0.76751	0.561000	0.74099	ACG	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258181.1		-	ENST00000278379.3	Missense_Mutation	SNP	11 : 35338932 - 35338932 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	51
NFATC4	4776	broad.mit.edu	37	14	24839076	24839076	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24839076G>A	ENST00000413692.2	+	3	805	c.661G>A	c.(661-663)Gca>Aca	p.A221T	NFATC4_ENST00000557451.1_Missense_Mutation_p.A88T|NFATC4_ENST00000554344.1_Missense_Mutation_p.A88T|NFATC4_ENST00000554591.1_Missense_Mutation_p.A221T|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000556169.1_Missense_Mutation_p.A146T|NFATC4_ENST00000250373.4_Missense_Mutation_p.A158T|NFATC4_ENST00000556279.1_Missense_Mutation_p.A190T|NFATC4_ENST00000554050.1_Missense_Mutation_p.A158T|NFATC4_ENST00000553469.1_Missense_Mutation_p.A190T|NFATC4_ENST00000422617.3_Missense_Mutation_p.A146T|NFATC4_ENST00000424781.2_Missense_Mutation_p.A171T|NFATC4_ENST00000539237.2_Missense_Mutation_p.A190T|NFATC4_ENST00000555453.1_Missense_Mutation_p.A146T|NFATC4_ENST00000553879.1_Missense_Mutation_p.A88T|NFATC4_ENST00000555590.1_Missense_Mutation_p.A171T|NFATC4_ENST00000554661.1_Missense_Mutation_p.A88T|NFATC4_ENST00000554966.1_Missense_Mutation_p.A171T|NFATC4_ENST00000553708.1_Missense_Mutation_p.A158T	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	158	2 approximate SP repeats.|Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CTACAGAGAAGCAGGGGGCCA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													8	10	9			NA	NA	14		NA											NA				24839076		2120	4234	6354	SO:0001583	missense			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968	4776	4776		Nuclear factor of activated T-cells	7778	protein-coding gene	gene with protein product		602699			NA	7749981	Standard	NM_004554	NM_004554	NA	Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000413692.2:c.661G>A	14.37:g.24839076G>A	ENSP00000388910:p.Ala221Thr	NA	B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	37	CCDS45089.1	.	.	.	.	.	.	.	.	.	.	G	9.768	1.171899	0.21704	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000557674;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38	3.8	2.91	0.33838	.	0.397445	0.18366	N	0.143422	T	0.09905	0.0243	N	0.14661	0.345	0.42755	D	0.993781	P;B;P;B;P;P;P;B;B;B;B;B;B;P	0.50528	0.936;0.0;0.936;0.0;0.936;0.936;0.936;0.0;0.0;0.0;0.0;0.0;0.0;0.895	P;B;P;B;P;P;P;B;B;B;B;B;B;B	0.44477	0.451;0.001;0.451;0.001;0.451;0.451;0.451;0.001;0.001;0.001;0.001;0.001;0.001;0.264	T	0.18178	-1.0345	10	0.38643	T	0.18	-3.8362	5.22	0.15364	0.1177:0.2108:0.6714:0.0	.	146;146;190;190;171;171;171;221;221;146;190;135;221;158	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	T	221;221;171;171;171;190;190;190;158;158;158;135;88;88;88;146;88;146;146	ENSP00000388910:A221T;ENSP00000452039:A221T;ENSP00000451224:A171T;ENSP00000450644:A171T;ENSP00000388668:A171T;ENSP00000439350:A190T;ENSP00000452270:A190T;ENSP00000451502:A190T;ENSP00000451151:A158T;ENSP00000250373:A158T;ENSP00000450590:A158T;ENSP00000452352:A135T;ENSP00000452349:A88T;ENSP00000450469:A88T;ENSP00000450733:A88T;ENSP00000451454:A146T;ENSP00000451284:A88T;ENSP00000396788:A146T;ENSP00000450686:A146T	ENSP00000250373:A158T	A	+	1	0	NFATC4	23908916	1.000000	0.71417	0.915000	0.36163	0.688000	0.40055	1.570000	0.36439	0.804000	0.34136	0.467000	0.42956	GCA	NFATC4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414125.2		+	ENST00000413692.2	Missense_Mutation	SNP	14 : 24839076 - 24839076 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	105	16
RIN1	9610	broad.mit.edu	37	11	66102411	66102411	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66102411G>T	ENST00000530056.1	-	5	758	c.544C>A	c.(544-546)Cta>Ata	p.L182I	RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000424433.2_Missense_Mutation_p.L182I|RIN1_ENST00000311320.4_Missense_Mutation_p.L287I			Q13671	RIN1_HUMAN	Ras and Rab interactor 1	287					endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						TCCCTCCGTAGCAGCTGGCAA	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	14	15			NA	NA	11		NA											NA				66102411		2194	4292	6486	SO:0001583	missense			L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791	9610	9610			18749	protein-coding gene	gene with protein product		605965			NA	9144171, 1849280	Standard	NM_004292	NM_004292	NA	Approved		uc001ohn.1	Q13671		ENST00000530056.1:c.544C>A	11.37:g.66102411G>T	ENSP00000432798:p.Leu182Ile	NA	O15010|Q00427|Q96CC8	37		.	.	.	.	.	.	.	.	.	.	G	15.13	2.741447	0.49151	.	.	ENSG00000174791	ENST00000311320;ENST00000424433;ENST00000530056	T;T;T	0.17854	2.93;2.74;2.25	4.26	4.26	0.50523	.	0.428856	0.18284	N	0.145939	T	0.28234	0.0697	M	0.61703	1.905	0.28014	N	0.934784	B;D	0.58268	0.32;0.982	B;P	0.51657	0.081;0.676	T	0.06588	-1.0818	10	0.49607	T	0.09	-10.9273	12.5372	0.56147	0.0:0.0:1.0:0.0	.	182;287	E9PNR2;Q13671	.;RIN1_HUMAN	I	287;182;182	ENSP00000310406:L287I;ENSP00000400560:L182I;ENSP00000432798:L182I	ENSP00000310406:L287I	L	-	1	2	RIN1	65858987	0.968000	0.33430	0.996000	0.52242	0.376000	0.30014	1.680000	0.37607	2.099000	0.63709	0.462000	0.41574	CTA	RIN1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000392983.1		-	ENST00000530056.1	Missense_Mutation	SNP	11 : 66102411 - 66102411 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	127	22
ADH7	131	broad.mit.edu	37	4	100349765	100349765	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100349765C>T	ENST00000437033.2	-	3	646	c.143G>A	c.(142-144)cGc>cAc	p.R48H	ADH7_ENST00000476959.1_Missense_Mutation_p.R68H|ADH7_ENST00000482593.1_5'UTR|ADH7_ENST00000209665.4_Missense_Mutation_p.R60H			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	60					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	GTCATCTGTGCGACAGATTCC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													195	162	173			NA	NA	4		NA											NA				100349765		2203	4300	6503	SO:0001583	missense			X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	131	131	1.1.1.1	Alcohol dehydrogenases	256	protein-coding gene	gene with protein product		600086			NA	8195208	Standard	NM_000673	NM_000673	NA	Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000437033.2:c.143G>A	4.37:g.100349765C>T	ENSP00000414254:p.Arg48His	NA	A2RRB6|B2R760|Q13713	37		.	.	.	.	.	.	.	.	.	.	C	3.540	-0.093892	0.07053	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000476959	T;T;T	0.02682	4.2;4.2;4.2	4.02	0.0509	0.14296	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.514876	0.22398	N	0.060597	T	0.00695	0.0023	N	0.00339	-1.615	0.40885	D	0.98402	B	0.22080	0.064	B	0.17722	0.019	T	0.50499	-0.8821	10	0.02654	T	1	-0.7343	8.3891	0.32518	0.0:0.6467:0.0:0.3533	.	60	P40394	ADH7_HUMAN	H	48;60;68	ENSP00000414254:R48H;ENSP00000209665:R60H;ENSP00000420269:R68H	ENSP00000209665:R60H	R	-	2	0	ADH7	100568788	1.000000	0.71417	0.493000	0.27502	0.998000	0.95712	0.598000	0.24074	-0.246000	0.09611	0.655000	0.94253	CGC	ADH7-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000354562.1		-	ENST00000437033.2	Missense_Mutation	SNP	4 : 100349765 - 100349765 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	693	44
FAH	2184	broad.mit.edu	37	15	80478528	80478528	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:80478528C>T	ENST00000539156.1	+	13	3265	c.1027C>T	c.(1027-1029)Ctg>Ttg	p.L343L	FAH_ENST00000261755.5_Silent_p.L413L|FAH_ENST00000561421.1_Silent_p.L413L|FAH_ENST00000407106.1_Silent_p.L413L			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	413					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGAAAAGTGCTGCCTGCTCT	0.562		NA							Tyrosinemia, type 1					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	133	142			NA	NA	15		NA											NA				80478528		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	M55150	CCDS10314.1	15q25.1	2012-08-30			ENSG00000103876	ENSG00000103876	2184	2184	3.7.1.2		3579	protein-coding gene	gene with protein product		613871			NA	1998338, 2336361	Standard		NM_000137	NA	Approved		uc002bfm.2	P16930	OTTHUMG00000144187	ENST00000539156.1:c.1027C>T	15.37:g.80478528C>T		NA	B2R9X1|D3DW95	37																																																																																				FAH-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000416757.2		+	ENST00000539156.1	Silent	SNP	15 : 80478528 - 80478528 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	72
ANKRD17	26057	broad.mit.edu	37	4	73944497	73944497	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73944497G>T	ENST00000358602.4	-	31	7386	c.7270C>A	c.(7270-7272)Cca>Aca	p.P2424T	ANKRD17_ENST00000509867.2_Missense_Mutation_p.P2311T|ANKRD17_ENST00000330838.6_Missense_Mutation_p.P2173T	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2424					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATAGGGACTGGAACTTTCCTG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	103	110			NA	NA	4		NA											NA				73944497		2203	4300	6503	SO:0001583	missense			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466	26057	26057		Ankyrin repeat domain containing	23575	protein-coding gene	gene with protein product		615929			NA	11165478	Standard	NM_032217	NM_032217	NA	Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.7270C>A	4.37:g.73944497G>T	ENSP00000351416:p.Pro2424Thr	NA	Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070760	0.76301	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867	D;D;D	0.89552	-2.28;-2.29;-2.53	5.9	5.9	0.94986	.	0.090952	0.47455	D	0.000234	D	0.90858	0.7128	L	0.57536	1.79	0.51233	D	0.999918	P;P;P;P	0.44429	0.835;0.835;0.745;0.745	B;P;B;B	0.47645	0.429;0.553;0.247;0.247	D	0.91150	0.4952	10	0.87932	D	0	.	20.2787	0.98501	0.0:0.0:1.0:0.0	.	2423;2173;2424;2311	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	T	2424;1831;2173;2311	ENSP00000351416:P2424T;ENSP00000332265:P2173T;ENSP00000427151:P2311T	ENSP00000332265:P2173T	P	-	1	0	ANKRD17	74163361	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.230000	0.95299	2.798000	0.96311	0.650000	0.86243	CCA	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362475.1		-	ENST00000358602.4	Missense_Mutation	SNP	4 : 73944497 - 73944497 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	374	36
SH3BGRL3	83442	broad.mit.edu	37	1	26607289	26607289	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26607289C>A	ENST00000270792.5	+	2	1062	c.82C>A	c.(82-84)Ctg>Atg	p.L28M	SH3BGRL3_ENST00000319041.6_Missense_Mutation_p.L28M	NM_031286.3	NP_112576.1	Q9H299	SH3L3_HUMAN	SH3 domain binding glutamate-rich protein like 3	28	Glutaredoxin.				cell redox homeostasis	cytoplasm|nucleus	electron carrier activity|protein disulfide oxidoreductase activity				NA		all_cancers(24;1.16e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.22e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00751)|READ - Rectum adenocarcinoma(331;0.0649)		GACCCGAATCCTGGATGGGAA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	69	72			NA	NA	1		NA											NA				26607289		2203	4300	6503	SO:0001583	missense			AJ297915	CCDS278.1	1p36.11	2014-02-19	2014-02-19		ENSG00000142669	ENSG00000142669	83442	83442			15568	protein-coding gene	gene with protein product		615679	SH3 domain binding glutamic acid-rich protein like 3		NA		Standard		NM_031286	NA	Approved		uc001blu.3	Q9H299	OTTHUMG00000003381	ENST00000270792.5:c.82C>A	1.37:g.26607289C>A	ENSP00000270792:p.Leu28Met	NA	Q5T122	37	CCDS278.1	.	.	.	.	.	.	.	.	.	.	C	33	5.253796	0.95336	.	.	ENSG00000142669	ENST00000270792;ENST00000374243;ENST00000319041	D;D	0.90385	-2.66;-2.66	6.08	6.08	0.98989	Glutaredoxin (1);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	D	0.95730	0.8611	.	.	.	0.48087	D	0.999588	D	0.71674	0.998	D	0.73380	0.98	D	0.95096	0.8226	9	0.62326	D	0.03	-9.1582	20.6634	0.99662	0.0:1.0:0.0:0.0	.	28	Q9H299	SH3L3_HUMAN	M	28;161;28	ENSP00000270792:L28M;ENSP00000363358:L28M	ENSP00000270792:L28M	L	+	1	2	SH3BGRL3	26479876	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.019000	0.70818	2.894000	0.99253	0.655000	0.94253	CTG	SH3BGRL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000009498.1		+	ENST00000270792.5	Missense_Mutation	SNP	1 : 26607289 - 26607289 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	47
SCRIB	23513	broad.mit.edu	37	8	144885613	144885613	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144885613G>A	ENST00000356994.2	-	24	3549	c.3543C>T	c.(3541-3543)ggC>ggT	p.G1181G	SCRIB_ENST00000377533.3_Silent_p.G1100G|SCRIB_ENST00000320476.3_Silent_p.G1181G	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1181	Interaction with ARHGEF7.|PDZ 4.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TGAGGGTGTCGCCCACACTGC	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(51;966 1133 10533 14576 29674)							NA				0													20	20	20			NA	NA	8		NA											NA				144885613		2191	4291	6482	SO:0001819	synonymous_variant			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900	23513	23513			30377	protein-coding gene	gene with protein product		607733	scribbled homolog (Drosophila)		NA	11027293, 14681682	Standard	NM_015356	NM_182706	NA	Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000356994.2:c.3543C>T	8.37:g.144885613G>A		NA	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	37	CCDS6412.1	.	.	.	.	.	.	.	.	.	.	G	2.245	-0.372995	0.05034	.	.	ENSG00000180900	ENST00000526832	.	.	.	4.82	-3.59	0.04583	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.2487	0.01978	0.3264:0.2015:0.3352:0.137	.	.	.	.	X	177	.	.	R	-	1	2	SCRIB	144957601	0.000000	0.05858	0.972000	0.41901	0.088000	0.18126	-3.061000	0.00623	-0.478000	0.06823	-0.518000	0.04402	CGA	SCRIB-002	NOVEL	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382214.2		-	ENST00000356994.2	Silent	SNP	8 : 144885613 - 144885613 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	99	17
DNAH7	56171	broad.mit.edu	37	2	196741347	196741347	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:196741347G>T	ENST00000312428.6	-	37	6138	c.6038C>A	c.(6037-6039)gCt>gAt	p.A2013D		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2013	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTGAGTTTGAGCTGCTGTAGT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	139	144			NA	NA	2		NA											NA				196741347		1834	4083	5917	SO:0001583	missense			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997	56171	56171		Axonemal dyneins, EF-hand domain containing	18661	protein-coding gene	gene with protein product		610061	dynein, axonemal, heavy polypeptide 7		NA	9373155, 11877439	Standard	NM_018897	NM_018897	NA	Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6038C>A	2.37:g.196741347G>T	ENSP00000311273:p.Ala2013Asp	NA	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298407	0.60195	.	.	ENSG00000118997	ENST00000312428	T	0.43688	0.94	5.55	5.55	0.83447	ATPase, AAA+ type, core (1);	0.055211	0.64402	D	0.000001	T	0.50411	0.1614	L	0.58510	1.815	0.80722	D	1	B	0.29270	0.24	B	0.39771	0.309	T	0.40720	-0.9548	10	0.36615	T	0.2	.	19.28	0.94050	0.0:0.0:1.0:0.0	.	2013	Q8WXX0	DYH7_HUMAN	D	2013	ENSP00000311273:A2013D	ENSP00000311273:A2013D	A	-	2	0	DNAH7	196449592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.773000	0.68898	2.890000	0.99128	0.585000	0.79938	GCT	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335202.3		-	ENST00000312428.6	Missense_Mutation	SNP	2 : 196741347 - 196741347 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	516	46
APCS	325	broad.mit.edu	37	1	159558114	159558114	+	Silent	SNP	A	A	G	rs11545900		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159558114A>G	ENST00000255040.2	+	2	385	c.288A>G	c.(286-288)agA>agG	p.R96R		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	96	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					ACATTGGAAGACACAAAGTTA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	94	94			NA	NA	1		NA											NA				159558114		2203	4300	6503	SO:0001819	synonymous_variant				CCDS1186.1	1q21-q23	2012-10-02			ENSG00000132703	ENSG00000132703	325	325			584	protein-coding gene	gene with protein product	pentaxin-related, 9.5S alpha-1-glycoprotein	104770			NA	2987268	Standard	NM_001639	NM_001639	NA	Approved	SAP, PTX2, MGC88159	uc001ftv.3	P02743	OTTHUMG00000022741	ENST00000255040.2:c.288A>G	1.37:g.159558114A>G		NA		37	CCDS1186.1																																																																																			APCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059024.2		+	ENST00000255040.2	Silent	SNP	1 : 159558114 - 159558114 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	577	42
DAPP1	27071	broad.mit.edu	37	4	100761522	100761522	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100761522T>A	ENST00000296414.7	+	3	382	c.301T>A	c.(301-303)Tct>Act	p.S101T	DAPP1_ENST00000512369.1_Missense_Mutation_p.S101T			Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	101	SH2.				signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		TGAATTCTCATCTTTGAAGGA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	55	56			NA	NA	4		NA											NA				100761522		1817	4078	5895	SO:0001583	missense			AF186022	CCDS47112.1	4q25-q27	2013-02-14			ENSG00000070190	ENSG00000070190	27071	27071		Pleckstrin homology (PH) domain containing, SH2 domain containing	16500	protein-coding gene	gene with protein product		605768			NA	10432293	Standard		NM_014395	NA	Approved	BAM32	uc003hvf.4	Q9UN19	OTTHUMG00000160974	ENST00000296414.7:c.301T>A	4.37:g.100761522T>A	ENSP00000296414:p.Ser101Thr	NA	Q8TCK5|Q9UHF2	37		.	.	.	.	.	.	.	.	.	.	T	14.23	2.473587	0.43942	.	.	ENSG00000070190	ENST00000296414;ENST00000512369	D;D	0.89681	-2.55;-2.55	5.55	4.32	0.51571	SH2 motif (5);	0.295543	0.34245	N	0.004132	T	0.78394	0.4276	N	0.21194	0.64	0.38763	D	0.954374	B;B;B	0.24426	0.103;0.003;0.001	B;B;B	0.23574	0.047;0.005;0.007	T	0.72265	-0.4344	10	0.15499	T	0.54	1.7998	8.2107	0.31481	0.3907:0.0:0.0:0.6093	.	101;101;101	B4DW38;Q9UN19-2;Q9UN19	.;.;DAPP1_HUMAN	T	101	ENSP00000296414:S101T;ENSP00000423602:S101T	ENSP00000296414:S101T	S	+	1	0	DAPP1	100980545	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.132000	0.50523	2.117000	0.64856	0.533000	0.62120	TCT	DAPP1-001	PUTATIVE	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000363214.1		+	ENST00000296414.7	Missense_Mutation	SNP	4 : 100761522 - 100761522 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	130	22
RASAL2	9462	broad.mit.edu	37	1	178425861	178425861	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178425861C>T	ENST00000462775.1	+	11	1919	c.1794C>T	c.(1792-1794)acC>acT	p.T598T	RASAL2_ENST00000448150.3_Silent_p.T728T|RASAL2_ENST00000367649.3_Silent_p.T739T	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	598					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TACAGGCGACCGTGGCAAAAT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													217	229	225			NA	NA	1		NA											NA				178425861		2203	4300	6503	SO:0001819	synonymous_variant			AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391	9462	9462		Pleckstrin homology (PH) domain containing	9874	protein-coding gene	gene with protein product	Ras GTPase activating protein-like, Ras protein activator like 1	606136			NA	9877179	Standard	NM_170692	NM_004841	NA	Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.1794C>T	1.37:g.178425861C>T		NA	O95174|Q5TFU9	37	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	C	4.747	0.138821	0.09083	.	.	ENSG00000075391	ENST00000433130	.	.	.	5.04	0.19	0.15125	.	.	.	.	.	T	0.43722	0.1260	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23154	-1.0196	4	.	.	.	.	3.425	0.07408	0.1192:0.5236:0.1172:0.24	.	.	.	.	C	149	.	.	R	+	1	0	RASAL2	176692484	0.808000	0.29022	0.992000	0.48379	0.931000	0.56810	-0.119000	0.10676	0.117000	0.18138	-0.136000	0.14681	CGT	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084758.3		+	ENST00000462775.1	Silent	SNP	1 : 178425861 - 178425861 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1945	135
ATP9A	10079	broad.mit.edu	37	20	50305609	50305609	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50305609C>T	ENST00000338821.5	-	9	1057	c.793G>A	c.(793-795)Gca>Aca	p.A265T	ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	265					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			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCACCTGATGCGACCACAGTG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	153	151			NA	NA	20		NA											NA				50305609		2203	4300	6503	SO:0001583	missense			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793	10079	10079		ATPases / P-type	13540	protein-coding gene	gene with protein product		609126	ATPase, Class II, type 9A		NA	9734811, 11015572	Standard	NM_006045	NM_006045	NA	Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.793G>A	20.37:g.50305609C>T	ENSP00000342481:p.Ala265Thr	NA	E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	37	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003612	0.74932	.	.	ENSG00000054793	ENST00000338821	D	0.90444	-2.67	5.26	5.26	0.73747	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.95010	0.8385	M	0.76433	2.335	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	D	0.95197	0.8313	10	0.62326	D	0.03	-19.9054	18.8514	0.92232	0.0:1.0:0.0:0.0	.	265	O75110	ATP9A_HUMAN	T	265	ENSP00000342481:A265T	ENSP00000342481:A265T	A	-	1	0	ATP9A	49739016	1.000000	0.71417	0.106000	0.21319	0.299000	0.27559	7.439000	0.80444	2.437000	0.82529	0.591000	0.81541	GCA	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000106494.1		-	ENST00000338821.5	Missense_Mutation	SNP	20 : 50305609 - 50305609 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1026	84
JPH3	57338	broad.mit.edu	37	16	87678515	87678515	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87678515G>A	ENST00000284262.2	+	2	1276	c.1034G>A	c.(1033-1035)gGc>gAc	p.G345D		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	345					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		ATCCTCGTCGGCGGCAAGCGC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	56	53			NA	NA	16		NA											NA				87678515		2197	4300	6497	SO:0001583	missense			AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118	57338	57338			14203	protein-coding gene	gene with protein product		605268	trinucleotide repeat containing 22	TNRC22	NA	10949023, 10891348	Standard		NM_020655	NA	Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.1034G>A	16.37:g.87678515G>A	ENSP00000284262:p.Gly345Asp	NA	D3DUN2|Q8N471|Q9HDC3|Q9HDC4	37	CCDS10962.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018483	0.54576	.	.	ENSG00000154118	ENST00000537256;ENST00000284262	T	0.70045	-0.45	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.46541	0.1398	N	0.08118	0	0.26726	N	0.970681	B	0.02656	0.0	B	0.04013	0.001	T	0.19451	-1.0305	10	0.21014	T	0.42	.	16.3368	0.83067	0.0:0.0:1.0:0.0	.	345	Q8WXH2	JPH3_HUMAN	D	208;345	ENSP00000284262:G345D	ENSP00000284262:G345D	G	+	2	0	JPH3	86236016	1.000000	0.71417	0.999000	0.59377	0.827000	0.46813	6.520000	0.73773	2.098000	0.63641	0.561000	0.74099	GGC	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269108.2		+	ENST00000284262.2	Missense_Mutation	SNP	16 : 87678515 - 87678515 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	435	92
MUC16	94025	broad.mit.edu	37	19	9067890	9067890	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9067890G>A	ENST00000397910.4	-	3	19759	c.19556C>T	c.(19555-19557)gCa>gTa	p.A6519V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6521	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						TGAGGTTATTGCTGGTAAAGA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	104	105			NA	NA	19		NA											NA				9067890		1931	4133	6064	SO:0001583	missense			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.19556C>T	19.37:g.9067890G>A	ENSP00000381008:p.Ala6519Val	NA	Q6ZQW5|Q96RK2	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.178	0.218462	0.09810	.	.	ENSG00000181143	ENST00000397910	T	0.23552	1.9	1.72	-0.953	0.10362	.	.	.	.	.	T	0.14527	0.0351	L	0.36672	1.1	.	.	.	P	0.34587	0.458	B	0.28232	0.087	T	0.21348	-1.0248	8	0.87932	D	0	.	2.1819	0.03877	0.2021:0.0:0.4967:0.3012	.	6519	B5ME49	.	V	6519	ENSP00000381008:A6519V	ENSP00000381008:A6519V	A	-	2	0	MUC16	8928890	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.221000	0.09202	-0.140000	0.11394	0.177000	0.17058	GCA	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Missense_Mutation	SNP	19 : 9067890 - 9067890 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	177	40
ZNF749	388567	broad.mit.edu	37	19	57955694	57955694	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57955694A>G	ENST00000334181.4	+	3	1428	c.1178A>G	c.(1177-1179)cAc>cGc	p.H393R	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TTCTTTAGTCACCGCTCCACA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	101	101			NA	NA	19		NA											NA				57955694		2203	4300	6503	SO:0001583	missense			AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230	388567	388567		Zinc fingers, C2H2-type, -	32783	protein-coding gene	gene with protein product					NA		Standard	NM_001023561	NM_001023561	NA	Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1178A>G	19.37:g.57955694A>G	ENSP00000333980:p.His393Arg	NA		37	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	A	0.238	-1.015811	0.02078	.	.	ENSG00000186230	ENST00000334181	T	0.17691	2.26	1.73	-0.556	0.11803	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05960	0.0155	N	0.02865	-0.47	0.09310	N	1	B	0.12630	0.006	B	0.13407	0.009	T	0.42430	-0.9452	9	0.21540	T	0.41	.	6.2028	0.20585	0.5547:0.0:0.4453:0.0	.	393	O43361	ZN749_HUMAN	R	393	ENSP00000333980:H393R	ENSP00000333980:H393R	H	+	2	0	ZNF749	62647506	0.000000	0.05858	0.000000	0.03702	0.662000	0.39071	-1.884000	0.01622	-0.249000	0.09569	0.164000	0.16699	CAC	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317879.1		+	ENST00000334181.4	Missense_Mutation	SNP	19 : 57955694 - 57955694 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	533	88
PISD	23761	broad.mit.edu	37	22	32017820	32017820	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32017820G>A	ENST00000397500.1	-	4	499	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C	PISD_ENST00000382151.2_Missense_Mutation_p.R91C|PISD_ENST00000478893.1_5'UTR|PISD_ENST00000439502.2_Missense_Mutation_p.R125C|PISD_ENST00000336566.4_Missense_Mutation_p.R125C|PISD_ENST00000266095.5_Missense_Mutation_p.R91C			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	125					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	TGATTGAGGCGACCCCAGGCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	62	65			NA	NA	22		NA											NA				32017820		2203	4300	6503	SO:0001583	missense				CCDS13899.1	22q12.2	2011-01-25			ENSG00000241878	ENSG00000241878	23761	23761	4.1.1.65		8999	protein-coding gene	gene with protein product		612770			NA	10591208	Standard		NM_014338	NA	Approved	dJ858B16.2, PSDC	uc003alk.2	Q9UG56	OTTHUMG00000030252	ENST00000397500.1:c.271C>T	22.37:g.32017820G>A	ENSP00000380637:p.Arg91Cys	NA	B1AKM7|O43207|O95535|Q6IC28|Q96GQ2|Q9UGA9	37		.	.	.	.	.	.	.	.	.	.	G	24.4	4.531634	0.85706	.	.	ENSG00000241878	ENST00000382151;ENST00000266095;ENST00000397500;ENST00000439502;ENST00000336566;ENST00000451635;ENST00000422020	.	.	.	5.62	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.76263	0.3963	M	0.79614	2.46	0.80722	D	1	D;D;D;P	0.76494	0.999;0.999;0.999;0.913	D;P;P;B	0.63703	0.917;0.872;0.838;0.334	T	0.77021	-0.2742	9	0.39692	T	0.17	-43.4371	13.5982	0.62002	0.0745:0.0:0.9255:0.0	.	115;125;91;91	B1AJZ0;Q9UG56;B1AKM6;Q9UG56-2	.;PISD_HUMAN;.;.	C	91;91;91;125;125;91;91	.	ENSP00000266095:R91C	R	-	1	0	PISD	30347820	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	9.471000	0.97696	1.387000	0.46486	-0.251000	0.11542	CGC	PISD-006	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000127975.2		-	ENST00000397500.1	Missense_Mutation	SNP	22 : 32017820 - 32017820 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	493	90
ZBTB7B	51043	broad.mit.edu	37	1	154988148	154988148	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154988148C>T	ENST00000368426.3	+	3	1149	c.1012C>T	c.(1012-1014)Cgc>Tgc	p.R338C	ZBTB7B_ENST00000292176.2_Missense_Mutation_p.R338C|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.R372C|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.R338C	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	338					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAAGCTGGTGCGCAAACGCCG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	46	46			NA	NA	1		NA											NA				154988148		2203	4300	6503	SO:0001583	missense			AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685	51043	51043		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	18668	protein-coding gene	gene with protein product	zinc finger and BTB domain containing 15	607646	zinc finger protein 67 homolog (mouse)	ZFP67	NA	9370309, 7937772	Standard	NM_015872	NR_045515	NA	Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.1012C>T	1.37:g.154988148C>T	ENSP00000357411:p.Arg338Cys	NA	D3DV83|Q68DR2|Q96EP2	37	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	c	17.98	3.521512	0.64747	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.11063	2.84;2.84;2.81;2.84	4.08	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.11495	0.0280	L	0.29908	0.895	0.51767	D	0.999938	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.991;0.991	T	0.01626	-1.1309	10	0.87932	D	0	.	9.1092	0.36716	0.2183:0.7817:0.0:0.0	.	338;338;372	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	C	338;338;372;338	ENSP00000438647:R338C;ENSP00000357411:R338C;ENSP00000406286:R372C;ENSP00000292176:R338C	ENSP00000292176:R338C	R	+	1	0	ZBTB7B	153254772	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.168000	0.31859	2.109000	0.64355	0.462000	0.41574	CGC	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091083.1		+	ENST00000368426.3	Missense_Mutation	SNP	1 : 154988148 - 154988148 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	335	95
GNAZ	2781	broad.mit.edu	37	22	23465529	23465529	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:23465529G>A	ENST00000248996.4	+	3	1645	c.979G>A	c.(979-981)Gcc>Acc	p.A327T	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	327						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CTTCACCTGCGCCACCGACAC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	105	118			NA	NA	22		NA											NA				23465529		2203	4300	6503	SO:0001583	missense				CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266	2781	2781			4395	protein-coding gene	gene with protein product		139160			NA	2115889	Standard	NM_002073	NM_002073	NA	Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.979G>A	22.37:g.23465529G>A	ENSP00000248996:p.Ala327Thr	NA	B2R6C1|Q4QRJ6	37	CCDS13804.1	.	.	.	.	.	.	.	.	.	.	G	36	5.944967	0.97134	.	.	ENSG00000128266	ENST00000248996;ENST00000456059	D	0.91351	-2.83	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.97359	0.9136	H	0.98111	4.15	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.98609	1.0662	10	0.87932	D	0	.	18.4882	0.90836	0.0:0.0:1.0:0.0	.	327	P19086	GNAZ_HUMAN	T	327;275	ENSP00000248996:A327T	ENSP00000248996:A327T	A	+	1	0	GNAZ	21795529	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	9.596000	0.98267	2.695000	0.91970	0.655000	0.94253	GCC	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319073.1		+	ENST00000248996.4	Missense_Mutation	SNP	22 : 23465529 - 23465529 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	321	66
ABI3BP	25890	broad.mit.edu	37	3	100645275	100645275	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100645275G>A	ENST00000471714.1	-	2	260	c.151C>T	c.(151-153)Ctc>Ttc	p.L51F	ABI3BP_ENST00000532144.1_5'UTR|ABI3BP_ENST00000284322.5_Missense_Mutation_p.L51F|ABI3BP_ENST00000495063.1_Missense_Mutation_p.L51F			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	51						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						AACTTCAAGAGGATGGAGTCA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													208	203	205			NA	NA	3		NA											NA				100645275		1986	4155	6141	SO:0001583	missense			AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175	25890	25890		Fibronectin type III domain containing	17265	protein-coding gene	gene with protein product	target of Nesh-SH3	606279			NA	11501947	Standard		NM_015429	NA	Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000471714.1:c.151C>T	3.37:g.100645275G>A	ENSP00000420524:p.Leu51Phe	NA	B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	37		.	.	.	.	.	.	.	.	.	.	G	10.07	1.250444	0.22880	.	.	ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000495063	T;T	0.24538	2.05;1.85	5.55	-1.72	0.08107	.	0.439683	0.23856	N	0.043881	T	0.12178	0.0296	N	0.14661	0.345	0.51012	D	0.999903	B;B;B	0.11235	0.004;0.0;0.003	B;B;B	0.11329	0.006;0.002;0.004	T	0.11494	-1.0585	10	0.35671	T	0.21	-0.1114	8.3435	0.32258	0.5828:0.1163:0.3009:0.0	.	44;51;51	Q9H717;Q5JPC9;Q7Z7G0	.;.;TARSH_HUMAN	F	51	ENSP00000420524:L51F;ENSP00000284322:L51F	ENSP00000284322:L51F	L	-	1	0	ABI3BP	102127965	0.991000	0.36638	0.840000	0.33206	0.930000	0.56654	0.214000	0.17541	-0.757000	0.04697	-0.808000	0.03180	CTC	ABI3BP-002	NOVEL	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000353261.1		-	ENST00000471714.1	Missense_Mutation	SNP	3 : 100645275 - 100645275 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	45
CELSR1	9620	broad.mit.edu	37	22	46931735	46931735	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46931735C>T	ENST00000262738.3	-	1	1332	c.1333G>A	c.(1333-1335)Gtg>Atg	p.V445M	CELSR1_ENST00000395964.1_Missense_Mutation_p.V445M	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	445	Cadherin 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCGATGTACACGGTGGCCGTG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	37	45			NA	NA	22		NA											NA				46931735		2198	4292	6490	SO:0001583	missense			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275	9620	9620		Cadherins / Major cadherins, -, GPCR / Class B : Orphans	1850	protein-coding gene	gene with protein product	flamingo homolog 2 (Drosophila)	604523	cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog		NA	9339365	Standard	NM_014246	XM_006724383	NA	Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.1333G>A	22.37:g.46931735C>T	ENSP00000262738:p.Val445Met	NA	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	37	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261258	0.80246	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.33216	1.42;1.42	4.8	4.8	0.61643	Cadherin (4);Cadherin-like (1);	0.000000	0.56097	U	0.000025	T	0.68439	0.3001	H	0.95712	3.71	0.46774	D	0.999194	D	0.89917	1.0	D	0.91635	0.999	T	0.80346	-0.1421	10	0.87932	D	0	.	17.4763	0.87659	0.0:1.0:0.0:0.0	.	445	Q9NYQ6	CELR1_HUMAN	M	445	ENSP00000262738:V445M;ENSP00000379293:V445M	ENSP00000262738:V445M	V	-	1	0	CELSR1	45310399	1.000000	0.71417	0.992000	0.48379	0.967000	0.64934	7.498000	0.81546	2.218000	0.71995	0.462000	0.41574	GTG	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318037.1		-	ENST00000262738.3	Missense_Mutation	SNP	22 : 46931735 - 46931735 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	81
USP24	23358	broad.mit.edu	37	1	55569592	55569592	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55569592G>T	ENST00000294383.6	-	42	4981	c.4982C>A	c.(4981-4983)tCt>tAt	p.S1661Y	USP24_ENST00000407756.1_Missense_Mutation_p.S1501Y	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1661					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GTGATGCATAGAAAGCAGTTC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	57	58			NA	NA	1		NA											NA				55569592		1842	4092	5934	SO:0001583	missense			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402	23358	23358		Ubiquitin-specific peptidases	12623	protein-coding gene	gene with protein product		610569	ubiquitin specific protease 24		NA	12838346	Standard		NM_015306	NA	Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.4982C>A	1.37:g.55569592G>T	ENSP00000294383:p.Ser1661Tyr	NA	Q6ZSY2|Q8N2Y4|Q9NXD1	37	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	G	17.52	3.410228	0.62399	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.67698	-0.28;-0.28	6.05	6.05	0.98169	.	0.111807	0.64402	D	0.000006	T	0.57140	0.2033	L	0.34521	1.04	0.51767	D	0.999936	P	0.37398	0.593	B	0.30943	0.122	T	0.61481	-0.7054	10	0.66056	D	0.02	.	18.7818	0.91937	0.0:0.0:1.0:0.0	.	1501	B7WPF4	.	Y	1661;1501	ENSP00000294383:S1661Y;ENSP00000385700:S1501Y	ENSP00000294383:S1661Y	S	-	2	0	USP24	55342180	1.000000	0.71417	0.981000	0.43875	0.993000	0.82548	7.502000	0.81614	2.878000	0.98634	0.650000	0.86243	TCT	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022275.2		-	ENST00000294383.6	Missense_Mutation	SNP	1 : 55569592 - 55569592 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	91	17
MROH8	140699	broad.mit.edu	37	20	35738747	35738747	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35738747G>A	ENST00000441008.2	-	24	2784	c.2785C>T	c.(2785-2787)Caa>Taa	p.Q929*	MROH8_ENST00000217333.8_Silent_p.C771C|MROH8_ENST00000400441.3_Silent_p.C942C					maestro heat-like repeat family member 8	NA											NA						TTTTCCCCTTGCACTTTTTTT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													270	247	254			NA	NA	20		NA											NA				35738747		1862	4108	5970	SO:0001587	stop_gained			AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353	140699	140699		maestro heat-like repeat containing	16125	protein-coding gene	gene with protein product	hypothetical protein LOC140699		chromosome 20 open reading frame 131, chromosome 20 open reading frame 132	C20orf131, C20orf132	NA	11780052, 15635413	Standard	NM_152503	NM_152503	NA	Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000441008.2:c.2785C>T	20.37:g.35738747G>A	ENSP00000392144:p.Gln929*	NA		37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.899390|6.899390	0.97920|0.97920	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000343811|ENST00000417458;ENST00000441008	.|.	.|.	.|.	5.6|5.6	2.52|2.52	0.30459|0.30459	.|.	.|.	.|.	.|.	.|.	T|.	0.52419|.	0.1733|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.43925|.	-0.9361|.	4|.	.|.	.|.	.|.	-2.5753|-2.5753	5.3703|5.3703	0.16136|0.16136	0.1774:0.1679:0.6548:0.0|0.1774:0.1679:0.6548:0.0	.|.	.|.	.|.	.|.	V|X	969|570;929	.|.	.|.	A|Q	-|-	2|1	0|0	C20orf132|C20orf132	35172161|35172161	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.983000|0.983000	0.72400|0.72400	0.780000|0.780000	0.26760|0.26760	0.816000|0.816000	0.34421|0.34421	0.609000|0.609000	0.83330|0.83330	GCA|CAA	MROH8-203	KNOWN	basic	protein_coding	NA	protein_coding			-	ENST00000441008.2	Nonsense_Mutation	SNP	20 : 35738747 - 35738747 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	641	114
NCALD	83988	broad.mit.edu	37	8	102731833	102731833	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:102731833G>A	ENST00000522951.1	-	2	159	c.25C>T	c.(25-27)Cgc>Tgc	p.R9C	NCALD_ENST00000519508.2_Missense_Mutation_p.R9C|NCALD_ENST00000521599.1_Missense_Mutation_p.R9C|NCALD_ENST00000311028.3_Missense_Mutation_p.R9C|NCALD_ENST00000220931.6_Missense_Mutation_p.R9C|NCALD_ENST00000395923.1_Missense_Mutation_p.R9C			P61601	NCALD_HUMAN	neurocalcin delta	9					synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			ACCTCCGGGCGCAGCTTGCTG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	57	56			NA	NA	8		NA											NA				102731833		2203	4300	6503	SO:0001583	missense			AF052142	CCDS6292.1	8q22.3	2014-08-12			ENSG00000104490	ENSG00000104490	83988	83988		EF-hand domain containing	7655	protein-coding gene	gene with protein product		606722			NA	11267673	Standard		XM_006716672	NA	Approved		uc003ykk.3	P61601	OTTHUMG00000164876	ENST00000522951.1:c.25C>T	8.37:g.102731833G>A	ENSP00000428781:p.Arg9Cys	NA	P29554|Q8IYC3|Q9H0W2	37		.	.	.	.	.	.	.	.	.	.	G	16.48	3.135044	0.56828	.	.	ENSG00000104490	ENST00000395923;ENST00000311028;ENST00000220931;ENST00000521599;ENST00000519508;ENST00000522951;ENST00000522448;ENST00000520690;ENST00000518727;ENST00000520425;ENST00000518166;ENST00000522252;ENST00000517822;ENST00000524209;ENST00000517531;ENST00000521964;ENST00000519098;ENST00000523923;ENST00000520346;ENST00000518661;ENST00000522206;ENST00000524137;ENST00000522078	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01	5.34	5.34	0.76211	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.26340	0.0643	M	0.62266	1.93	0.80722	D	1	D	0.61080	0.989	B	0.39738	0.308	T	0.16958	-1.0385	10	0.87932	D	0	.	19.0263	0.92934	0.0:0.0:1.0:0.0	.	9	P61601	NCALD_HUMAN	C	9	ENSP00000379256:R9C;ENSP00000310587:R9C;ENSP00000220931:R9C;ENSP00000428105:R9C;ENSP00000430476:R9C;ENSP00000428781:R9C;ENSP00000429466:R9C;ENSP00000429255:R9C;ENSP00000430731:R9C;ENSP00000430925:R9C;ENSP00000429522:R9C;ENSP00000428598:R9C;ENSP00000428312:R9C;ENSP00000429493:R9C;ENSP00000429245:R9C;ENSP00000430064:R9C;ENSP00000430534:R9C;ENSP00000428193:R9C;ENSP00000430365:R9C;ENSP00000428093:R9C;ENSP00000429296:R9C	ENSP00000220931:R9C	R	-	1	0	NCALD	102801009	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.474000	0.83562	0.557000	0.71058	CGC	NCALD-002	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000380730.1		-	ENST00000522951.1	Missense_Mutation	SNP	8 : 102731833 - 102731833 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	452	75
ELMO3	79767	broad.mit.edu	37	16	67237764	67237764	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67237764G>A	ENST00000360833.1	+	19	2312	c.2255G>A	c.(2254-2256)aGc>aAc	p.S752N	ELMO3_ENST00000393997.2_Missense_Mutation_p.S769N|ELMO3_ENST00000477898.1_Missense_Mutation_p.S603N			Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	716					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TATGACTGCAGCATCGCTGAA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	16	16			NA	NA	16		NA											NA				67237764		1941	4123	6064	SO:0001583	missense				CCDS10833.2	16q22.1	2010-03-18	2006-01-20		ENSG00000102890	ENSG00000102890	79767	79767		Engulfment and cell motility proteins	17289	protein-coding gene	gene with protein product		606422	engulfment and cell motility 3 (ced-12 homolog, C. elegans)		NA	11595183	Standard	NM_024712	NM_024712	NA	Approved	FLJ13824, CED12, ELMO-3, CED-12	uc002esa.3	Q96BJ8	OTTHUMG00000133570	ENST00000360833.1:c.2255G>A	16.37:g.67237764G>A	ENSP00000354077:p.Ser752Asn	NA	B4DV86|Q9H8A5	37		.	.	.	.	.	.	.	.	.	.	G	8.596	0.885780	0.17540	.	.	ENSG00000102890	ENST00000360833;ENST00000393997	T;T	0.14766	2.48;2.48	5.32	4.34	0.51931	.	0.124832	0.64402	D	0.000001	T	0.13243	0.0321	L	0.39020	1.185	0.49582	D	0.999802	B;P;P	0.39480	0.181;0.675;0.493	B;B;B	0.41988	0.033;0.372;0.234	T	0.10154	-1.0642	10	0.18710	T	0.47	-11.2324	13.1906	0.59709	0.0:0.3065:0.6935:0.0	.	716;752;769	Q96BJ8;F8W9E7;Q96BJ8-3	ELMO3_HUMAN;.;.	N	752;769	ENSP00000354077:S752N;ENSP00000377566:S769N	ENSP00000354077:S752N	S	+	2	0	ELMO3	65795265	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	3.302000	0.51849	1.221000	0.43506	0.563000	0.77884	AGC	ELMO3-001	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000257667.2		+	ENST00000360833.1	Missense_Mutation	SNP	16 : 67237764 - 67237764 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	128	28
ATP2A2	488	broad.mit.edu	37	12	110765515	110765515	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110765515T>C	ENST00000308664.6	+	8	1462	c.788T>C	c.(787-789)gTc>gCc	p.V263A	ATP2A2_ENST00000539276.2_Missense_Mutation_p.V263A|ATP2A2_ENST00000395494.2_Missense_Mutation_p.V236A	NM_001681.3|NM_170665.3	NP_001672.1|NP_733765.1	P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	263					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CTTTCCAAAGTCATCTCCCTT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	153	153			NA	NA	12		NA											NA				110765515		2203	4300	6503	SO:0001583	missense				CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	488	488	3.6.3.8	ATPases / P-type	812	protein-coding gene	gene with protein product	sarcoplasmic/endoplasmic reticulum calcium ATPase 2, calcium pump 2	108740		ATP2B, DAR	NA	10080178	Standard	NM_001681	NM_170665	NA	Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000308664.6:c.788T>C	12.37:g.110765515T>C	ENSP00000311186:p.Val263Ala	NA	A6NDN7|B4DF05|P16614|Q86VJ2	37	CCDS9143.1	.	.	.	.	.	.	.	.	.	.	T	17.63	3.436419	0.62955	.	.	ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276	D;D;D	0.91407	-2.84;-2.84;-2.84	5.48	5.48	0.80851	ATPase, P-type, ATPase-associated domain (1);	0.055142	0.64402	D	0.000001	D	0.84999	0.5597	N	0.22421	0.69	0.80722	D	1	B;B;B	0.13594	0.008;0.004;0.008	B;B;B	0.19148	0.012;0.014;0.024	T	0.80605	-0.1308	10	0.41790	T	0.15	.	15.9151	0.79508	0.0:0.0:0.0:1.0	.	236;263;263	P16615-4;P16615-2;P16615	.;.;AT2A2_HUMAN	A	263;236;263	ENSP00000311186:V263A;ENSP00000378872:V236A;ENSP00000440045:V263A	ENSP00000311186:V263A	V	+	2	0	ATP2A2	109249898	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.980000	0.88113	2.213000	0.71641	0.477000	0.44152	GTC	ATP2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403537.1		+	ENST00000308664.6	Missense_Mutation	SNP	12 : 110765515 - 110765515 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	949	33
CHML	1122	broad.mit.edu	37	1	241798002	241798002	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241798002C>A	ENST00000366553.1	-	1	1230	c.1067G>T	c.(1066-1068)gGt>gTt	p.G356V	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	356					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TGCGTTAAGACCATCTATTGT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	126	127			NA	NA	1		NA											NA				241798002		2203	4299	6502	SO:0001583	missense			X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668	1122	1122			1941	protein-coding gene	gene with protein product		118825			NA	7981670	Standard	NM_001821	NM_001821	NA	Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.1067G>T	1.37:g.241798002C>A	ENSP00000355511:p.Gly356Val	NA	B2RAB9|Q17RE0|Q9H1Y4	37	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104997	0.56291	.	.	ENSG00000203668	ENST00000366553	D	0.86366	-2.11	4.96	3.99	0.46301	.	0.107759	0.64402	U	0.000006	D	0.92564	0.7638	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92555	0.6053	9	0.62326	D	0.03	-9.7362	13.364	0.60674	0.0:0.8401:0.1598:0.0	.	356	P26374	RAE2_HUMAN	V	356	ENSP00000355511:G356V	ENSP00000355511:G356V	G	-	2	0	CHML	239864625	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	3.935000	0.56560	2.752000	0.94435	0.655000	0.94253	GGT	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095712.1		-	ENST00000366553.1	Missense_Mutation	SNP	1 : 241798002 - 241798002 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	550	154
ASH1L	55870	broad.mit.edu	37	1	155491144	155491144	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155491144C>T	ENST00000368346.3	-	2	806	c.167G>A	c.(166-168)aGa>aAa	p.R56K	ASH1L_ENST00000392403.3_Missense_Mutation_p.R56K|ASH1L_ENST00000548830.1_Missense_Mutation_p.R56K			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	56					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTCGATGTTTCTTTCTCGATT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													310	311	310			NA	NA	1		NA											NA				155491144		2203	4300	6503	SO:0001583	missense			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539	55870	55870		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	19088	protein-coding gene	gene with protein product		607999			NA	10860993, 16545939	Standard	NM_018489	NM_018489	NA	Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.167G>A	1.37:g.155491144C>T	ENSP00000357330:p.Arg56Lys	NA	Q59GP1|Q5T714|Q5T715|Q9P2C7	37		.	.	.	.	.	.	.	.	.	.	C	17.24	3.338689	0.60963	.	.	ENSG00000116539	ENST00000368346;ENST00000392403;ENST00000548830	D;D	0.87491	-2.26;-2.26	6.03	5.13	0.70059	.	0.384283	0.27996	N	0.017004	T	0.49712	0.1573	N	0.08118	0	0.26744	N	0.970322	B;B	0.13145	0.004;0.007	B;B	0.16289	0.007;0.015	T	0.32824	-0.9892	10	0.05721	T	0.95	.	9.9335	0.41537	0.1377:0.7926:0.0:0.0697	.	56;56	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	K	56	ENSP00000357330:R56K;ENSP00000376204:R56K	ENSP00000357330:R56K	R	-	2	0	ASH1L	153757768	1.000000	0.71417	0.861000	0.33841	0.862000	0.49288	4.288000	0.59007	1.567000	0.49668	0.557000	0.71058	AGA	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000039400.1		-	ENST00000368346.3	Missense_Mutation	SNP	1 : 155491144 - 155491144 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2003	400
MUC16	94025	broad.mit.edu	37	19	9090699	9090699	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9090699C>A	ENST00000397910.4	-	1	1319	c.1116G>T	c.(1114-1116)gaG>gaT	p.E372D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	372	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						TATCCATGGTCTCAGCGAAGG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	87	89			NA	NA	19		NA											NA				9090699		2036	4189	6225	SO:0001583	missense			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.1116G>T	19.37:g.9090699C>A	ENSP00000381008:p.Glu372Asp	NA	Q6ZQW5|Q96RK2	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	3.030	-0.199854	0.06219	.	.	ENSG00000181143	ENST00000397910	T	0.02606	4.23	1.38	-1.31	0.09230	.	.	.	.	.	T	0.01523	0.0049	N	0.08118	0	.	.	.	B	0.15719	0.014	B	0.10450	0.005	T	0.46816	-0.9164	8	0.87932	D	0	.	1.9136	0.03292	0.3171:0.4568:0.0:0.2261	.	372	B5ME49	.	D	372	ENSP00000381008:E372D	ENSP00000381008:E372D	E	-	3	2	MUC16	8951699	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-3.040000	0.00633	-0.277000	0.09193	0.313000	0.20887	GAG	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Missense_Mutation	SNP	19 : 9090699 - 9090699 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	49
EMX1	2016	broad.mit.edu	37	2	73145311	73145311	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73145311G>A	ENST00000258106.6	+	1	708	c.330G>A	c.(328-330)tcG>tcA	p.S110S	EMX1_ENST00000394111.5_Intron	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN	empty spiracles homeobox 1	77						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(3)	6						cgggccgcTCGCTCTACGGTG	0.771		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													5	6	6			NA	NA	2		NA											NA				73145311		1595	3568	5163	SO:0001819	synonymous_variant			X68879	CCDS1921.2	2p13.2	2011-06-20	2007-02-15		ENSG00000135638	ENSG00000135638	2016	2016		Homeoboxes / ANTP class : NKL subclass	3340	protein-coding gene	gene with protein product		600034	empty spiracles homolog 1 (Drosophila)		NA	7959790	Standard		XM_005264203	NA	Approved		uc002sin.1	Q04741	OTTHUMG00000129778	ENST00000258106.6:c.330G>A	2.37:g.73145311G>A		NA	Q0D2P0|Q53T30|Q86XB0	37	CCDS1921.2																																																																																			EMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251994.3		+	ENST00000258106.6	Silent	SNP	2 : 73145311 - 73145311 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	139	50
CCBE1	147372	broad.mit.edu	37	18	57115222	57115222	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:57115222G>A	ENST00000439986.4	-	7	805	c.768C>T	c.(766-768)ggC>ggT	p.G256G	CCBE1_ENST00000398179.2_Missense_Mutation_p.A32V	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	256	Collagen-like 1.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CACCGGGAGGGCCCTGGCCCC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)							NA				0													92	81	85			NA	NA	18		NA											NA				57115222		2203	4300	6503	SO:0001819	synonymous_variant			AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287	147372	147372			29426	protein-coding gene	gene with protein product		612753			NA	11853319, 12975309	Standard	NM_133459	NM_133459	NA	Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.768C>T	18.37:g.57115222G>A		NA	Q6MZX5|Q86SS2|Q8TF19	37	CCDS32838.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.855409	0.32791	.	.	ENSG00000183287	ENST00000398179	D	0.84070	-1.8	5.62	2.72	0.32119	.	.	.	.	.	T	0.72471	0.3464	.	.	.	0.09310	N	0.999998	B	0.13594	0.008	B	0.14578	0.011	T	0.62886	-0.6759	8	0.66056	D	0.02	-24.2524	3.7746	0.08654	0.2623:0.0:0.5666:0.1711	.	32	Q6UXH8-2	.	V	32	ENSP00000381241:A32V	ENSP00000381241:A32V	A	-	2	0	CCBE1	55266202	0.996000	0.38824	1.000000	0.80357	0.688000	0.40055	0.196000	0.17176	0.746000	0.32786	0.591000	0.81541	GCC	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449685.2		-	ENST00000439986.4	Silent	SNP	18 : 57115222 - 57115222 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	646	113
TPR	7175	broad.mit.edu	37	1	186307228	186307228	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186307228T>C	ENST00000367478.4	-	31	4595	c.4299A>G	c.(4297-4299)caA>caG	p.Q1433Q		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	NA					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTTTCTTAACTTGAGTAATAG	0.303		NA	T	NTRK1	papillary thyroid									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1q25	7175	translocated promoter region		E	0													144	129	134			NA	NA	1		NA											NA				186307228		1819	4071	5890	SO:0001819	synonymous_variant			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410	7175	7175			12017	protein-coding gene	gene with protein product		189940	translocated promoter region (to activated MET oncogene)		NA	1611909, 15229283	Standard	NM_003292	NM_003292	NA	Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.4299A>G	1.37:g.186307228T>C		NA	Q15655|Q5SWY0	37	CCDS41446.1																																																																																			TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086353.2		-	ENST00000367478.4	Silent	SNP	1 : 186307228 - 186307228 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	314	85
VPRBP	9730	broad.mit.edu	37	3	51458120	51458120	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51458120A>G	ENST00000335891.5	-	7	966	c.957T>C	c.(955-957)agT>agC	p.S319S				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	768					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		GGACAGTGCTACTGCGAGACA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	97	99			NA	NA	3		NA											NA				51458120		1995	4169	6164	SO:0001819	synonymous_variant			AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041	9730	9730		DDB1 and CUL4 associated factors	30911	protein-coding gene	gene with protein product	DDB1 and CUL4 associated factor 1				NA	8195203, 11223251	Standard	NM_014703	NM_014703	NA	Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.957T>C	3.37:g.51458120A>G		NA	Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	37																																																																																				VPRBP-201	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding			-	ENST00000335891.5	Silent	SNP	3 : 51458120 - 51458120 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	556	102
GPR173	54328	broad.mit.edu	37	X	53106692	53106692	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53106692C>A	ENST00000332582.4	+	2	1380	c.889C>A	c.(889-891)Ctc>Atc	p.L297I		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	297						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						GCTCTTTCTGCTCCTCTGGTC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	73	89			NA	NA	X		NA											NA				53106692		2203	4300	6503	SO:0001583	missense			AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194	54328	54328		GPCR / Class A : Orphans	18186	protein-coding gene	gene with protein product		300253	G-protein coupled receptor 173, G protein coupled receptor 173		NA	10833454	Standard	NM_018969	NM_018969	NA	Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.889C>A	X.37:g.53106692C>A	ENSP00000331600:p.Leu297Ile	NA	B1B0A5	37	CCDS14349.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713333	0.30413	.	.	ENSG00000184194	ENST00000332582	T	0.37411	1.2	5.03	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	0.155901	0.41823	D	0.000820	T	0.29588	0.0738	L	0.46157	1.445	0.38960	D	0.958531	B	0.10296	0.003	B	0.18871	0.023	T	0.11743	-1.0575	10	0.23891	T	0.37	-11.5774	10.308	0.43691	0.0:0.6608:0.3392:0.0	.	297	Q9NS66	GP173_HUMAN	I	297	ENSP00000331600:L297I	ENSP00000331600:L297I	L	+	1	0	GPR173	53123417	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.113000	0.41902	2.094000	0.63399	0.529000	0.55759	CTC	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056717.2		+	ENST00000332582.4	Missense_Mutation	SNP	X : 53106692 - 53106692 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	155	42
DNAJC6	9829	broad.mit.edu	37	1	65855014	65855014	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65855014G>A	ENST00000395325.3	+	10	1255	c.1098G>A	c.(1096-1098)caG>caA	p.Q366Q	DNAJC6_ENST00000371069.4_Silent_p.Q423Q|DNAJC6_ENST00000263441.7_Silent_p.Q353Q	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	366	C2 tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TAGAACTACAGCCCCATGACA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	113	116			NA	NA	1		NA											NA				65855014		2203	4300	6503	SO:0001819	synonymous_variant			AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675	9829	9829		Heat shock proteins / DNAJ (HSP40)	15469	protein-coding gene	gene with protein product	auxilin	608375			NA	9455484, 11147971	Standard		NM_001256864	NA	Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.1098G>A	1.37:g.65855014G>A		NA	D3DQ65|Q32M66|Q4G0K1|Q5T614|Q5T615	37	CCDS30739.1																																																																																			DNAJC6-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025134.1		+	ENST00000395325.3	Silent	SNP	1 : 65855014 - 65855014 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	473	53
PRPH2	5961	broad.mit.edu	37	6	42666183	42666183	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42666183C>T	ENST00000230381.5	-	3	1130	c.891G>A	c.(889-891)gaG>gaA	p.E297E		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	297					cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TCTCAGATTCCTCGGGGTTGG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	72	72			NA	NA	6		NA											NA				42666183		2203	4300	6503	SO:0001819	synonymous_variant				CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619	5961	5961		Tetraspanins	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	retinal degeneration, slow (retinitis pigmentosa 7), retinal degeneration, slow	RP7, RDS	NA	1749427	Standard	NM_000322	NM_000322	NA	Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.891G>A	6.37:g.42666183C>T		NA	Q5TFH5|Q6DK65	37	CCDS4871.1																																																																																			PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040556.1		-	ENST00000230381.5	Silent	SNP	6 : 42666183 - 42666183 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	393	79
PRRC2A	7916	broad.mit.edu	37	6	31590622	31590622	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31590622C>T	ENST00000376033.2	+	2	290	c.56C>T	c.(55-57)tCg>tTg	p.S19L	PRRC2A_ENST00000376007.4_Missense_Mutation_p.S19L|PRRC2A_ENST00000469577.1_Intron	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	19						cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AAGTATTCCTCGCTCAACCTG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													226	228	227			NA	NA	6		NA											NA				31590622		2203	4300	6503	SO:0001583	missense			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469	7916	7916			13918	protein-coding gene	gene with protein product		142580	HLA-B associated transcript 2	BAT2	NA	2156268, 8499947	Standard	NM_080686	NM_080686	NA	Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.56C>T	6.37:g.31590622C>T	ENSP00000365201:p.Ser19Leu	NA	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	37	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.540107	0.65085	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.26373	1.74;1.74	4.91	4.91	0.64330	BAT2, N-terminal (1);	0.000000	0.46758	D	0.000280	T	0.40979	0.1139	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.31110	-0.9955	10	0.87932	D	0	-7.4656	17.0393	0.86484	0.0:1.0:0.0:0.0	.	19	P48634	PRC2A_HUMAN	L	19	ENSP00000365175:S19L;ENSP00000365201:S19L	ENSP00000365175:S19L	S	+	2	0	PRRC2A	31698601	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.315000	0.78998	2.548000	0.85928	0.650000	0.86243	TCG	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000259319.1		+	ENST00000376033.2	Missense_Mutation	SNP	6 : 31590622 - 31590622 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	924	87
MOB2	81532	broad.mit.edu	37	11	1491566	1491566	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1491566G>A	ENST00000329957.6	-	5	832	c.643C>T	c.(643-645)Ctc>Ttc	p.L215F	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	184						nucleus|perinuclear region of cytoplasm	metal ion binding			breast(1)|kidney(2)|lung(1)	4						CGAGCAAAGAGGATGAAGTGG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	141	137			NA	NA	11		NA											NA				1491566		2121	4222	6343	SO:0001583	missense				CCDS53591.1	11p15.5	2011-09-28			ENSG00000182208	ENSG00000182208	81532	81532		MOB kinase activators	24904	protein-coding gene	gene with protein product	MOB2 Mps One Binder homolog (yeast)	611969			NA	11223154, 15067004	Standard	NM_053005	NM_053005	NA	Approved	HCCA2	uc010qwz.2	Q70IA6	OTTHUMG00000165545	ENST00000329957.6:c.643C>T	11.37:g.1491566G>A	ENSP00000328694:p.Leu215Phe	NA	Q96M67	37	CCDS53591.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563149	0.45694	.	.	ENSG00000182208	ENST00000329957	.	.	.	4.18	3.24	0.37175	.	0.160384	0.40908	D	0.000991	T	0.58821	0.2149	L	0.48174	1.505	0.41982	D	0.990809	P;P	0.49090	0.919;0.72	P;P	0.55749	0.783;0.619	T	0.52801	-0.8527	9	0.12103	T	0.63	-39.9522	12.2761	0.54735	0.0845:0.0:0.9155:0.0	.	215;184	E9PDA5;Q70IA6	.;MOB2_HUMAN	F	215	.	ENSP00000328694:L215F	L	-	1	0	AC091196.1	1448142	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	3.756000	0.55205	2.176000	0.68965	0.563000	0.77884	CTC	MOB2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384770.1		-	ENST00000329957.6	Missense_Mutation	SNP	11 : 1491566 - 1491566 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	683	124
PIP4K2C	79837	broad.mit.edu	37	12	57994625	57994625	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57994625G>T	ENST00000354947.5	+	8	861	c.845G>T	c.(844-846)aGc>aTc	p.S282I	PIP4K2C_ENST00000550465.1_Missense_Mutation_p.S264I|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.S282I|PIP4K2C_ENST00000422156.3_Missense_Mutation_p.S234I			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	282	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					ATGGACTACAGCCTTCTGCTA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													234	232	233			NA	NA	12		NA											NA				57994625		2203	4300	6503	SO:0001583	missense			AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908	79837	79837			23786	protein-coding gene	gene with protein product			phosphatidylinositol-4-phosphate 5-kinase, type II, gamma	PIP5K2C	NA	9367159	Standard	NM_024779	NM_024779	NA	Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.845G>T	12.37:g.57994625G>T	ENSP00000347032:p.Ser282Ile	NA	B2RDL3|Q9H6N2	37	CCDS8946.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.401154|4.401154	0.83120|0.83120	.|.	.|.	ENSG00000166908|ENSG00000166908	ENST00000548264|ENST00000422156;ENST00000540759;ENST00000550465;ENST00000354947	.|T;T;T;T	.|0.75704	.|-0.96;-0.96;-0.96;-0.96	4.47|4.47	4.47|4.47	0.54385|0.54385	.|Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	.|0.042667	.|0.85682	.|D	.|0.000000	D|D	0.91855|0.91855	0.7422|0.7422	H|H	0.98866|0.98866	4.355|4.355	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.999	D|D	0.95073|0.95073	0.8206|0.8206	5|10	.|0.87932	.|D	.|0	-14.8145|-14.8145	16.433|16.433	0.83860|0.83860	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|234;264;282	.|B4DM11;B4DY44;Q8TBX8	.|.;.;PI42C_HUMAN	S|I	90|234;282;264;282	.|ENSP00000412035:S234I;ENSP00000439878:S282I;ENSP00000447390:S264I;ENSP00000347032:S282I	.|ENSP00000347032:S282I	A|S	+|+	1|2	0|0	PIP4K2C|PIP4K2C	56280892|56280892	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.089000|9.089000	0.94137|0.94137	2.480000|2.480000	0.83734|0.83734	0.555000|0.555000	0.69702|0.69702	GCC|AGC	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407644.1		+	ENST00000354947.5	Missense_Mutation	SNP	12 : 57994625 - 57994625 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1543	310
HNRNPU	3192	broad.mit.edu	37	1	245027598	245027598	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245027598C>T	ENST00000444376.2	-	1	246	c.12G>A	c.(10-12)tcG>tcA	p.S4S	HNRNPU_ENST00000283179.9_Silent_p.S4S	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	4	Asp/Glu-rich (acidic).				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CATTAACAGGCGAGGAACTCA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(33;911 1010 3329 23631 49995)							NA				0													24	28	26			NA	NA	1		NA											NA				245027598		2200	4294	6494	SO:0001819	synonymous_variant			X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187	3192	3192			5048	protein-coding gene	gene with protein product		602869		HNRPU	NA	7509195, 8068679	Standard	NM_031844	NM_031844	NA	Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000444376.2:c.12G>A	1.37:g.245027598C>T		NA	O75507|Q8N174|Q96HY9|Q9BQ09	37	CCDS31081.1																																																																																			HNRNPU-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097162.2		-	ENST00000444376.2	Silent	SNP	1 : 245027598 - 245027598 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	235	49
RET	5979	broad.mit.edu	37	10	43615116	43615116	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43615116C>T	ENST00000355710.3	+	14	2762	c.2530C>T	c.(2530-2532)Cgg>Tgg	p.R844W	RET_ENST00000340058.5_Missense_Mutation_p.R844W	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	844	Protein kinase.		R -> L (in MTC; familial form; dbSNP:rs55947360).		homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CCCGGATGAGCGGGCCCTCAC	0.647		1	T, Mis, N, F	H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6	medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC	medullary thyroid,  papillary thyroid, pheochromocytoma	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	E, O	0			GRCh37	CM066982	RET	M							47	43	44			NA	NA	10		NA											NA				43615116		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731	5979	5979		Cadherins / Cadherin-related	9967	protein-coding gene	gene with protein product	cadherin-related family member 16	164761	multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease 1	HSCR1, MEN2A, MTC1, MEN2B	NA	2687772, 1611909	Standard	NM_020975	NM_020975	NA	Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2530C>T	10.37:g.43615116C>T	ENSP00000347942:p.Arg844Trp	NA	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	37	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889118	0.72524	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	D;D	0.83335	-1.71;-1.71	5.36	-0.803	0.10886	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88862	0.6552	M	0.69185	2.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.89496	0.3760	10	0.87932	D	0	.	16.3483	0.83171	0.6157:0.3843:0.0:0.0	.	590;844;844	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	W	844	ENSP00000347942:R844W;ENSP00000344798:R844W	ENSP00000344798:R844W	R	+	1	2	RET	42935122	1.000000	0.71417	0.995000	0.50966	0.858000	0.48976	1.985000	0.40668	0.186000	0.20125	0.313000	0.20887	CGG	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047694.2		+	ENST00000355710.3	Missense_Mutation	SNP	10 : 43615116 - 43615116 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	391	48
MYRF	745	broad.mit.edu	37	11	61551832	61551832	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61551832G>T	ENST00000278836.5	+	25	3371	c.3275G>T	c.(3274-3276)aGt>aTt	p.S1092I	MYRF_ENST00000389602.4_Missense_Mutation_p.S478I|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.S1052I	NM_001127392.1	NP_001120864.1			myelin regulatory factor	NA											NA						CTTCCACAGAGTCTCCACACC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	47	50			NA	NA	11		NA											NA				61551832		2202	4299	6501	SO:0001583	missense				CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920	745	745			1181	protein-coding gene	gene with protein product	myelin gene regulatory factor	608329	chromosome 11 open reading frame 9	C11orf9	NA	10828591, 12384578	Standard	NM_013279	NM_001127392	NA	Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.3275G>T	11.37:g.61551832G>T	ENSP00000278836:p.Ser1092Ile	NA		37	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.484299	0.26598	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000389602	T;T;T	0.50548	0.74;0.74;0.74	4.74	0.464	0.16706	.	0.892482	0.09985	N	0.730503	T	0.51958	0.1705	L	0.53249	1.67	0.09310	N	0.999999	P;B;P	0.49253	0.921;0.23;0.517	P;B;P	0.52957	0.714;0.116;0.522	T	0.42982	-0.9419	10	0.46703	T	0.11	-2.0972	8.519	0.33264	0.0874:0.4278:0.4848:0.0	.	478;1052;1092	B4DHB2;Q9Y2G1-2;Q9Y2G1	.;.;MRF_HUMAN	I	1092;1052;478	ENSP00000278836:S1092I;ENSP00000265460:S1052I;ENSP00000374253:S478I	ENSP00000265460:S1052I	S	+	2	0	C11orf9	61308408	0.000000	0.05858	0.005000	0.12908	0.018000	0.09664	0.056000	0.14256	-0.010000	0.14271	-0.140000	0.14226	AGT	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398519.2		+	ENST00000278836.5	Missense_Mutation	SNP	11 : 61551832 - 61551832 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	165	24
ERBB2IP	55914	broad.mit.edu	37	5	65350624	65350624	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:65350624A>C	ENST00000511297.1	+	21	3603	c.3466A>C	c.(3466-3468)Agt>Cgt	p.S1156R	ERBB2IP_ENST00000380938.2_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000284037.5_Missense_Mutation_p.S1160R			Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1160					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TATGTCAGTTAGTGATTTCAA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	60	61			NA	NA	5		NA											NA				65350624		2203	4300	6503	SO:0001583	missense				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851	55914	55914			15842	protein-coding gene	gene with protein product	densin-180-like protein, ERBB2-interacting protein	606944	erbb2-interacting protein		NA	10574462, 10878805	Standard	NM_018695	NM_001253697	NA	Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000511297.1:c.3466A>C	5.37:g.65350624A>C	ENSP00000422766:p.Ser1156Arg	NA	Q86W38|Q9NR18|Q9NW48|Q9ULJ5	37	CCDS58951.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.82|16.82	3.227621|3.227621	0.58668|0.58668	.|.	.|.	ENSG00000112851|ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515|ENST00000511671	T;T;T;T;T;T;T;T;T|.	0.54866|.	0.91;0.9;0.91;0.97;0.55;0.88;0.89;0.8;0.55|.	5.57|5.57	3.18|3.18	0.36537|0.36537	.|.	0.229431|.	0.51477|.	D|.	0.000089|.	T|.	0.54743|.	0.1877|.	L|L	0.46157|0.46157	1.445|1.445	0.58432|0.58432	D|D	0.999994|0.999994	D;D;D;D;D;D;D|.	0.69078|.	0.997;0.987;0.977;0.96;0.966;0.997;0.987|.	D;P;P;P;P;D;P|.	0.69479|.	0.964;0.878;0.905;0.762;0.641;0.964;0.88|.	T|.	0.48163|.	-0.9059|.	10|.	0.72032|.	D|.	0.01|.	.|.	8.0592|8.0592	0.30623|0.30623	0.7924:0.1371:0.0705:0.0|0.7924:0.1371:0.0705:0.0	.|.	1160;1160;1160;1156;1160;1160;1160|.	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2|.	.;.;.;.;LAP2_HUMAN;.;.|.	R|S	1160;1160;1160;1160;1160;1160;1156;1160;1160|55	ENSP00000284037:S1160R;ENSP00000370330:S1160R;ENSP00000370326:S1160R;ENSP00000370323:S1160R;ENSP00000370322:S1160R;ENSP00000370325:S1160R;ENSP00000422766:S1156R;ENSP00000426632:S1160R;ENSP00000422015:S1160R|.	ENSP00000284037:S1160R|.	S|X	+|+	1|2	0|0	ERBB2IP|ERBB2IP	65386380|65386380	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.995000|0.995000	0.86356|0.86356	6.857000|6.857000	0.75455|0.75455	0.922000|0.922000	0.37019|0.37019	0.528000|0.528000	0.53228|0.53228	AGT|TAG	ERBB2IP-006	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368829.1		+	ENST00000511297.1	Missense_Mutation	SNP	5 : 65350624 - 65350624 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	67
FNBP4	23360	broad.mit.edu	37	11	47772826	47772826	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47772826G>A	ENST00000263773.5	-	5	666	c.654C>T	c.(652-654)ggC>ggT	p.G218G	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	218	WW 1.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CCTGCCAATCGCCCATCTCAA	0.393		NA											G	2	9e-04	NA	0.01	2184	NA	0.9995	,	,	NA	3e-04	NA	NA	NA	9e-04	0.7548	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0								G		3,3751		0,3,1874	115	105	108		654	4.3	1	11		108	0,8220		0,0,4110	no	coding-synonymous	FNBP4	NM_015308.2		0,3,5984	AA,AG,GG	NA	0.0,0.0799,0.0251		218/1018	47772826	3,11971	1877	4110	5987	SO:0001819	synonymous_variant			BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920	23360	23360			19752	protein-coding gene	gene with protein product		615265			NA	10231032	Standard		NM_015308	NA	Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.654C>T	11.37:g.47772826G>A		NA	Q9H985|Q9NT81|Q9Y2L7	37	CCDS41644.1																																																																																			FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390237.3		-	ENST00000263773.5	Silent	SNP	11 : 47772826 - 47772826 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	665	114
ETAA1	54465	broad.mit.edu	37	2	67631862	67631862	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:67631862C>T	ENST00000272342.5	+	5	2178	c.2048C>T	c.(2047-2049)tCt>tTt	p.S683F	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	683						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TTTGCTATATCTAAACAAGGA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	85	84			NA	NA	2		NA											NA				67631862		2203	4299	6502	SO:0001583	missense			AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971	54465	54465			24648	protein-coding gene	gene with protein product		613196	Ewing's tumor-associated antigen 1		NA	16003559	Standard	NM_019002	XM_005264374	NA	Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.2048C>T	2.37:g.67631862C>T	ENSP00000272342:p.Ser683Phe	NA	Q05BT7|Q53SC4	37	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835227	0.71373	.	.	ENSG00000143971	ENST00000272342	T	0.26810	1.71	5.7	4.83	0.62350	.	0.550372	0.19256	N	0.118798	T	0.28300	0.0699	L	0.59436	1.845	0.25308	N	0.989222	B	0.27140	0.169	B	0.28553	0.091	T	0.23476	-1.0187	10	0.72032	D	0.01	-0.3088	11.9379	0.52884	0.0:0.9203:0.0:0.0797	.	683	Q9NY74	ETAA1_HUMAN	F	683	ENSP00000272342:S683F	ENSP00000272342:S683F	S	+	2	0	ETAA1	67485366	0.998000	0.40836	0.817000	0.32601	0.075000	0.17131	1.646000	0.37249	1.415000	0.47037	0.563000	0.77884	TCT	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251735.1		+	ENST00000272342.5	Missense_Mutation	SNP	2 : 67631862 - 67631862 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	463	84
CHD9	80205	broad.mit.edu	37	16	53191042	53191042	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53191042T>C	ENST00000566029.1	+	2	1250	c.1041T>C	c.(1039-1041)ggT>ggC	p.G347G	CHD9_ENST00000564845.1_Silent_p.G347G|CHD9_ENST00000447540.1_Silent_p.G347G|CHD9_ENST00000398510.3_Silent_p.G347G			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	347					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ATCCTCAGGGTAATTATAGCA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	39	40			NA	NA	16		NA											NA				53191042		1851	4096	5947	SO:0001819	synonymous_variant			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200	80205	80205			25701	protein-coding gene	gene with protein product					NA	9205841	Standard	NM_025134	XM_005256168	NA	Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000566029.1:c.1041T>C	16.37:g.53191042T>C		NA	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	37	CCDS45485.1																																																																																			CHD9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000422338.1		+	ENST00000566029.1	Silent	SNP	16 : 53191042 - 53191042 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	106	20
PLCB4	5332	broad.mit.edu	37	20	9404500	9404500	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:9404500C>T	ENST00000378501.2	+	24	2404	c.2389C>T	c.(2389-2391)Cga>Tga	p.R797*	PLCB4_ENST00000334005.3_Nonsense_Mutation_p.R797*|PLCB4_ENST00000278655.4_Nonsense_Mutation_p.R797*|PLCB4_ENST00000378493.1_Nonsense_Mutation_p.R797*|PLCB4_ENST00000378473.3_Nonsense_Mutation_p.R809*|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Nonsense_Mutation_p.R809*	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	797					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AGCCGGATATCGACACATTTC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	79	84			NA	NA	20		NA											NA				9404500		2203	4300	6503	SO:0001587	stop_gained				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	5332	5332	3.1.4.11		9059	protein-coding gene	gene with protein product		600810			NA	8530101	Standard		NM_000933	NA	Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378501.2:c.2389C>T	20.37:g.9404500C>T	ENSP00000367762:p.Arg797*	NA	B7ZLK6|Q17R56|Q5JYS8|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	37	CCDS13104.1	.	.	.	.	.	.	.	.	.	.	C	41	9.083261	0.99061	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	.	.	.	5.72	3.64	0.41730	.	0.057043	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3444	0.60564	0.4142:0.5858:0.0:0.0	.	.	.	.	X	797;809;797;797;797;645	.	ENSP00000278655:R797X	R	+	1	2	PLCB4	9352500	0.998000	0.40836	0.948000	0.38648	0.696000	0.40369	1.218000	0.32467	1.391000	0.46566	0.655000	0.94253	CGA	PLCB4-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077958.2		+	ENST00000378501.2	Nonsense_Mutation	SNP	20 : 9404500 - 9404500 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	189	29
LRP1	4035	broad.mit.edu	37	12	57577289	57577289	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57577289C>T	ENST00000243077.3	+	35	6256	c.5790C>T	c.(5788-5790)caC>caT	p.H1930H		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1930					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCGACTTCCACGCTGGTGAGC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	42	43			NA	NA	12		NA											NA				57577289		2203	4300	6503	SO:0001819	synonymous_variant			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384	4035	4035		CD molecules, Low density lipoprotein receptors	6692	protein-coding gene	gene with protein product		107770	alpha-2-macroglobulin receptor	APR, A2MR	NA	2548950	Standard	NM_002332	NM_002332	NA	Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.5790C>T	12.37:g.57577289C>T		NA	Q2PP12|Q8IVG8	37	CCDS8932.1																																																																																			LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412772.2		+	ENST00000243077.3	Silent	SNP	12 : 57577289 - 57577289 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	174	30
TNKS	8658	broad.mit.edu	37	8	9538260	9538260	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:9538260G>A	ENST00000518281.1	+	5	777	c.346G>A	c.(346-348)Gct>Act	p.A116T	TNKS_ENST00000520408.1_Missense_Mutation_p.A353T|TNKS_ENST00000310430.6_Missense_Mutation_p.A353T|TNKS_ENST00000518027.1_3'UTR			O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	353					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AAAACTAATGGCTTTACTGAC	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	95	92			NA	NA	8		NA											NA				9538260		2203	4300	6503	SO:0001583	missense			AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273	8658	8658		Poly (ADP-ribose) polymerases, Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	11941	protein-coding gene	gene with protein product		603303			NA	9822378, 10198177	Standard	NM_003747	XM_006716263	NA	Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000518281.1:c.346G>A	8.37:g.9538260G>A	ENSP00000429890:p.Ala116Thr	NA	O95272	37		.	.	.	.	.	.	.	.	.	.	G	20.5	3.998546	0.74818	.	.	ENSG00000173273	ENST00000520408;ENST00000310430;ENST00000518281	T;T;T	0.21932	2.41;2.41;1.98	5.83	5.83	0.93111	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.34948	0.0915	L	0.33485	1.01	0.80722	D	1	D;B	0.56035	0.974;0.008	P;B	0.62014	0.897;0.027	T	0.00832	-1.1548	10	0.26408	T	0.33	.	20.1197	0.97955	0.0:0.0:1.0:0.0	.	353;353	E7EWY6;O95271	.;TNKS1_HUMAN	T	353;353;116	ENSP00000428299:A353T;ENSP00000311579:A353T;ENSP00000429890:A116T	ENSP00000311579:A353T	A	+	1	0	TNKS	9575670	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.081000	0.76844	2.747000	0.94245	0.585000	0.79938	GCT	TNKS-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000375036.1		+	ENST00000518281.1	Missense_Mutation	SNP	8 : 9538260 - 9538260 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	438	73
PLEKHG3	26030	broad.mit.edu	37	14	65209988	65209988	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65209988T>C	ENST00000247226.7	+	15	3367	c.3059T>C	c.(3058-3060)gTc>gCc	p.V1020A	PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.V1076A|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.V581A|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.V609A	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1076					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		ggcccACCCGTCAACAGGAGC	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	15	14			NA	NA	14		NA											NA				65209988		2148	4220	6368	SO:0001583	missense			AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822	26030	26030		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	20364	protein-coding gene	gene with protein product			KIAA0599	KIAA0599	NA		Standard	NM_015549	XM_005267511	NA	Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000247226.7:c.3059T>C	14.37:g.65209988T>C	ENSP00000247226:p.Val1020Ala	NA	A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	37	CCDS32098.1	.	.	.	.	.	.	.	.	.	.	T	15.62	2.886197	0.51908	.	.	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	T;T;T;T	0.68765	0.11;-0.35;1.07;1.07	5.29	5.29	0.74685	.	0.000000	0.50627	D	0.000116	T	0.78426	0.4281	M	0.61703	1.905	0.29738	N	0.83737	D;D;D;D	0.76494	0.998;0.998;0.998;0.999	D;D;D;D	0.79784	0.99;0.99;0.984;0.993	T	0.75314	-0.3361	10	0.38643	T	0.18	.	14.2044	0.65725	0.0:0.0:0.0:1.0	.	609;581;1076;1020	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	A	1020;1076;609;581	ENSP00000247226:V1020A;ENSP00000378183:V1076A;ENSP00000450945:V609A;ENSP00000450973:V581A	ENSP00000247226:V1020A	V	+	2	0	PLEKHG3	64279741	1.000000	0.71417	0.986000	0.45419	0.037000	0.13140	5.053000	0.64269	1.987000	0.57996	0.533000	0.62120	GTC	PLEKHG3-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000073981.2		+	ENST00000247226.7	Missense_Mutation	SNP	14 : 65209988 - 65209988 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	10
GPR19	2842	broad.mit.edu	37	12	12815366	12815366	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12815366C>A	ENST00000540510.1	-	2	209	c.17G>T	c.(16-18)aGa>aTa	p.R6I	GPR19_ENST00000332427.2_Missense_Mutation_p.R6I			Q15760	GPR19_HUMAN	G protein-coupled receptor 19	6						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		GTTATCCATTCTGTGAGCAAA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	91	92			NA	NA	12		NA											NA				12815366		2203	4300	6503	SO:0001583	missense				CCDS8652.1	12p12.3	2014-01-30				ENSG00000183150	2842	2842		GPCR / Class A : Orphans	4473	protein-coding gene	gene with protein product		602927			NA		Standard	NM_006143	NM_006143	NA	Approved		uc001raq.2	Q15760		ENST00000540510.1:c.17G>T	12.37:g.12815366C>A	ENSP00000441832:p.Arg6Ile	NA		37	CCDS8652.1	.	.	.	.	.	.	.	.	.	.	C	9.253	1.041348	0.19669	.	.	ENSG00000183150	ENST00000540510;ENST00000332427;ENST00000540796	T;T	0.68624	-0.34;-0.34	5.43	2.44	0.29823	.	0.304358	0.28853	N	0.013925	T	0.45458	0.1343	N	0.14661	0.345	0.41650	D	0.989128	B	0.23735	0.09	B	0.15484	0.013	T	0.40850	-0.9541	10	0.54805	T	0.06	-12.887	9.0393	0.36307	0.0:0.6096:0.2469:0.1435	.	6	Q15760	GPR19_HUMAN	I	6	ENSP00000441832:R6I;ENSP00000333744:R6I	ENSP00000333744:R6I	R	-	2	0	GPR19	12706633	1.000000	0.71417	1.000000	0.80357	0.527000	0.34593	1.121000	0.31283	0.828000	0.34709	-0.150000	0.13652	AGA	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400662.1		-	ENST00000540510.1	Missense_Mutation	SNP	12 : 12815366 - 12815366 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	631	105
RAB3A	5864	broad.mit.edu	37	19	18311216	18311216	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18311216C>T	ENST00000222256.4	-	3	446	c.268G>A	c.(268-270)Gca>Aca	p.A90T	RAB3A_ENST00000464076.3_5'UTR	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	90					glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						CGGTAGTATGCGGTGGTGATG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													212	168	183			NA	NA	19		NA											NA				18311216		2203	4300	6503	SO:0001583	missense				CCDS12372.1	19p13.2	2008-07-17			ENSG00000105649	ENSG00000105649	5864	5864		RAB, member RAS oncogene	9777	protein-coding gene	gene with protein product	RAS-associated protein RAB3A	179490			NA	2687157, 7532276	Standard	NM_002866	NM_002866	NA	Approved		uc002nie.2	P20336	OTTHUMG00000137378	ENST00000222256.4:c.268G>A	19.37:g.18311216C>T	ENSP00000222256:p.Ala90Thr	NA	A8K0J4|Q9NYE1	37	CCDS12372.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193455	0.78902	.	.	ENSG00000105649	ENST00000222256	T	0.80123	-1.34	5.0	5.0	0.66597	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.82300	0.5007	N	0.16656	0.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85609	0.1257	10	0.87932	D	0	-34.8519	15.7492	0.77969	0.0:1.0:0.0:0.0	.	90	P20336	RAB3A_HUMAN	T	90	ENSP00000222256:A90T	ENSP00000222256:A90T	A	-	1	0	RAB3A	18172216	1.000000	0.71417	0.977000	0.42913	0.123000	0.20343	7.679000	0.84048	2.309000	0.77851	0.491000	0.48974	GCA	RAB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268056.2		-	ENST00000222256.4	Missense_Mutation	SNP	19 : 18311216 - 18311216 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	482	80
POT1	25913	broad.mit.edu	37	7	124464052	124464052	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:124464052C>T	ENST00000357628.3	-	19	2467	c.1869G>A	c.(1867-1869)caG>caA	p.Q623Q	POT1_ENST00000393329.1_Silent_p.Q492Q	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	623					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TGTCAAAAATCTGATAGCAAA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)							NA				0													189	163	172			NA	NA	7		NA											NA				124464052		2201	4299	6500	SO:0001819	synonymous_variant			AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513	25913	25913			17284	protein-coding gene	gene with protein product		606478	protection of telomeres 1 homolog (S. pombe)		NA	11349150, 12391173	Standard		NR_003102	NA	Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.1869G>A	7.37:g.124464052C>T		NA	O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	37	CCDS5793.1	.	.	.	.	.	.	.	.	.	.	C	8.763	0.924143	0.18056	.	.	ENSG00000128513	ENST00000436534	.	.	.	5.95	2.16	0.27623	.	.	.	.	.	T	0.55465	0.1922	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49579	-0.8925	4	.	.	.	-10.601	7.4549	0.27261	0.0:0.6136:0.0:0.3864	.	.	.	.	N	122	.	.	D	-	1	0	POT1	124251288	0.996000	0.38824	1.000000	0.80357	0.992000	0.81027	0.186000	0.16978	0.862000	0.35528	0.655000	0.94253	GAT	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347861.1		-	ENST00000357628.3	Silent	SNP	7 : 124464052 - 124464052 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	150	8
INTS7	25896	broad.mit.edu	37	1	212151704	212151704	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212151704C>T	ENST00000366994.3	-	11	1484	c.1380G>A	c.(1378-1380)ctG>ctA	p.L460L	INTS7_ENST00000366992.3_Silent_p.L460L|INTS7_ENST00000440600.2_Silent_p.L411L|INTS7_ENST00000366993.3_Silent_p.L460L|INTS7_ENST00000469606.1_5'UTR	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	460					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		CCAGCACCGGCAGTTGCATGG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	105	107			NA	NA	1		NA											NA				212151704		2203	4300	6503	SO:0001819	synonymous_variant			AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493	25896	25896			24484	protein-coding gene	gene with protein product		611350	chromosome 1 open reading frame 73	C1orf73	NA	16239144	Standard	NM_015434	NM_015434	NA	Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.1380G>A	1.37:g.212151704C>T		NA	B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	37	CCDS1501.1																																																																																			INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090142.1		-	ENST00000366994.3	Silent	SNP	1 : 212151704 - 212151704 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	639	95
TAF1D	79101	broad.mit.edu	37	11	93471348	93471348	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93471348C>A	ENST00000448108.2	-	3	1036	c.386G>T	c.(385-387)aGa>aTa	p.R129I		NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						GCCAGATCCTCTGCTTCTAAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	125	123			NA	NA	11		NA											NA				93471348		2201	4298	6499	SO:0001583	missense				CCDS8293.1	11q21	2012-05-30	2008-09-30	2008-09-30	ENSG00000166012	ENSG00000166012	79101	79101			28759	protein-coding gene	gene with protein product		612823	Josephin domain containing 3	JOSD3	NA	15520167, 17318177	Standard	NM_024116	NM_024116	NA	Approved	MGC5306, TAF(I)41	uc001pec.3	Q9H5J8	OTTHUMG00000167451	ENST00000448108.2:c.386G>T	11.37:g.93471348C>A	ENSP00000410409:p.Arg129Ile	NA	Q6I9Y6	37	CCDS8293.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.596396	0.28445	.	.	ENSG00000166012	ENST00000448108	.	.	.	5.45	-2.84	0.05751	.	0.438594	0.22677	N	0.056993	T	0.24774	0.0601	L	0.38175	1.15	0.09310	N	0.999996	P	0.47302	0.893	B	0.40825	0.341	T	0.26538	-1.0100	9	0.72032	D	0.01	-5.3265	10.8645	0.46847	0.0:0.501:0.0:0.499	.	129	Q9H5J8	TAF1D_HUMAN	I	129	.	ENSP00000314971:R129I	R	-	2	0	TAF1D	93110996	0.082000	0.21442	0.002000	0.10522	0.002000	0.02628	-0.278000	0.08490	-0.669000	0.05289	-1.934000	0.00508	AGA	TAF1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394662.2		-	ENST00000448108.2	Missense_Mutation	SNP	11 : 93471348 - 93471348 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	768	125
ZNF532	55205	broad.mit.edu	37	18	56651207	56651207	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56651207C>T	ENST00000336078.4	+	11	4191	c.3415C>T	c.(3415-3417)Ccc>Tcc	p.P1139S	ZNF532_ENST00000591083.1_Missense_Mutation_p.P1139S|ZNF532_ENST00000589288.1_Missense_Mutation_p.P1139S|ZNF532_ENST00000588956.1_3'UTR|ZNF532_ENST00000591808.1_Missense_Mutation_p.P1139S|ZNF532_ENST00000591230.1_Missense_Mutation_p.P1139S	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CTGAAAGGTCCCCAGTCCCAA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	86	85			NA	NA	18		NA											NA				56651207		2203	4300	6503	SO:0001583	missense			AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657	55205	55205		Zinc fingers, C2H2-type	30940	protein-coding gene	gene with protein product					NA	10997877	Standard	NM_018181	XM_005266723	NA	Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.3415C>T	18.37:g.56651207C>T	ENSP00000338217:p.Pro1139Ser	NA	Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	37	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493039	0.44352	.	.	ENSG00000074657	ENST00000336078	T	0.01495	4.83	5.84	5.84	0.93424	.	0.241087	0.42964	D	0.000630	T	0.02083	0.0065	L	0.38838	1.175	0.34340	D	0.688615	B;B	0.32939	0.063;0.391	B;B	0.28139	0.018;0.086	T	0.57142	-0.7862	10	0.24483	T	0.36	.	15.2524	0.73559	0.0:0.8599:0.1401:0.0	.	1139;1139	B3KXW2;Q9HCE3	.;ZN532_HUMAN	S	1139	ENSP00000338217:P1139S	ENSP00000338217:P1139S	P	+	1	0	ZNF532	54802187	0.737000	0.28175	0.991000	0.47740	0.270000	0.26580	1.743000	0.38258	2.769000	0.95229	0.561000	0.74099	CCC	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256130.1		+	ENST00000336078.4	Missense_Mutation	SNP	18 : 56651207 - 56651207 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	402	66
DES	1674	broad.mit.edu	37	2	220286186	220286186	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220286186G>A	ENST00000373960.3	+	6	1234	c.1148G>A	c.(1147-1149)cGc>cAc	p.R383H		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	383	Coil 2B.|Rod.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		GAGATGGCCCGCCATCTGCGC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	63	64			NA	NA	2		NA											NA				220286186		2203	4300	6503	SO:0001583	missense			AF521879	CCDS33383.1	2q35	2014-09-17			ENSG00000175084	ENSG00000175084	1674	1674		Intermediate filaments type III	2770	protein-coding gene	gene with protein product	intermediate filament protein	125660			NA	2673923, 9736733	Standard	NM_001927	NM_001927	NA	Approved	CMD1I, CSM1, CSM2	uc002vll.3	P17661	OTTHUMG00000058924	ENST00000373960.3:c.1148G>A	2.37:g.220286186G>A	ENSP00000363071:p.Arg383His	NA	Q15787|Q8IZR1|Q8IZR6|Q8NES2|Q8NEU6|Q8TAC4|Q8TCX2|Q8TD99|Q9UHN5|Q9UJ80	37	CCDS33383.1	.	.	.	.	.	.	.	.	.	.	G	35	5.516165	0.96402	.	.	ENSG00000175084	ENST00000373960	D	0.90261	-2.64	5.12	5.12	0.69794	Filament (1);	0.000000	0.46442	D	0.000298	D	0.95840	0.8646	M	0.86028	2.79	0.58432	D	0.99999	D	0.89917	1.0	D	0.87578	0.998	D	0.96252	0.9184	10	0.87932	D	0	.	18.3699	0.90403	0.0:0.0:1.0:0.0	.	383	P17661	DESM_HUMAN	H	383	ENSP00000363071:R383H	ENSP00000363071:R383H	R	+	2	0	DES	219994430	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.519000	0.98025	2.646000	0.89796	0.655000	0.94253	CGC	DES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130240.1		+	ENST00000373960.3	Missense_Mutation	SNP	2 : 220286186 - 220286186 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	456	103
PNLDC1	154197	broad.mit.edu	37	6	160238156	160238156	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160238156C>T	ENST00000392167.3	+	15	1164	c.1130C>T	c.(1129-1131)gCa>gTa	p.A377V	PNLDC1_ENST00000610273.1_Missense_Mutation_p.A366V			Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	366						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTGAAAGTGGCACACTTGCTT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													219	198	205			NA	NA	6		NA											NA				160238156		2203	4298	6501	SO:0001583	missense			AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453	154197	154197			21185	protein-coding gene	gene with protein product					NA		Standard	NM_173516	NM_001271862	NA	Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000392167.3:c.1130C>T	6.37:g.160238156C>T	ENSP00000376007:p.Ala377Val	NA	Q5TAP7|Q8N7X5	37		.	.	.	.	.	.	.	.	.	.	C	20.6	4.020294	0.75275	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	.	.	.	5.05	5.05	0.67936	Ribonuclease H-like (1);	0.000000	0.64402	D	0.000008	T	0.58623	0.2135	L	0.29908	0.895	0.47698	D	0.999493	D;D	0.89917	0.998;1.0	D;D	0.74674	0.969;0.984	T	0.62718	-0.6795	9	0.56958	D	0.05	.	16.5757	0.84637	0.0:1.0:0.0:0.0	.	377;366	Q8NA58-2;Q8NA58	.;PNDC1_HUMAN	V	366;377	.	ENSP00000275275:A366V	A	+	2	0	PNLDC1	160158146	0.995000	0.38212	0.917000	0.36280	0.953000	0.61014	4.185000	0.58330	2.518000	0.84900	0.655000	0.94253	GCA	PNLDC1-002	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000286401.2		+	ENST00000392167.3	Missense_Mutation	SNP	6 : 160238156 - 160238156 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	585	55
AMBP	259	broad.mit.edu	37	9	116823712	116823712	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116823712C>T	ENST00000265132.3	-	8	1107	c.845G>A	c.(844-846)cGa>cAa	p.R282Q		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	282					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	ACCCACAGTTCGGCAGGTCTG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	70	71			NA	NA	9		NA											NA				116823712		2203	4300	6503	SO:0001583	missense			X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927	259	259		Lipocalins	453	protein-coding gene	gene with protein product	growth-inhibiting protein 19, uristatin, complex-forming glycoprotein heterogeneous in charge, bikunin, inter-alpha-trypsin inhibitor light chain, protein HC, uronic-acid-rich protein, trypstatin	176870		ITI, ITIL	NA	1708673, 1385302	Standard	NM_001633	NM_001633	NA	Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.845G>A	9.37:g.116823712C>T	ENSP00000265132:p.Arg282Gln	NA	P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	37	CCDS6800.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395005	0.83011	.	.	ENSG00000106927	ENST00000265132;ENST00000540645	T	0.58506	0.33	5.4	5.4	0.78164	Proteinase inhibitor I2, Kunitz metazoa (4);	0.000000	0.85682	D	0.000000	T	0.74764	0.3759	M	0.69463	2.115	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.76820	-0.2818	10	0.66056	D	0.02	.	16.668	0.85258	0.0:1.0:0.0:0.0	.	223;282	B7Z8R6;P02760	.;AMBP_HUMAN	Q	282;223	ENSP00000265132:R282Q	ENSP00000265132:R282Q	R	-	2	0	AMBP	115863533	1.000000	0.71417	0.932000	0.37286	0.267000	0.26476	6.837000	0.75354	2.500000	0.84329	0.655000	0.94253	CGA	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053758.2		-	ENST00000265132.3	Missense_Mutation	SNP	9 : 116823712 - 116823712 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	620	97
BRD4	23476	broad.mit.edu	37	19	15365050	15365050	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15365050C>T	ENST00000263377.2	-	11	2292	c.2071G>A	c.(2071-2073)Ggc>Agc	p.G691S	BRD4_ENST00000371835.4_Missense_Mutation_p.G691S|BRD4_ENST00000360016.5_Missense_Mutation_p.G691S	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	691					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TTGGAGGAGCCGGCAATCACA	0.572		NA	T	C15orf55	lethal midline carcinoma of young people									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0													83	72	75			NA	NA	19		NA											NA				15365050		2203	4300	6503	SO:0001583	missense			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867	23476	23476			13575	protein-coding gene	gene with protein product	chromosome-associated protein	608749	bromodomain-containing 4		NA	10938129	Standard	NM_058243	NM_058243	NA	Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.2071G>A	19.37:g.15365050C>T	ENSP00000263377:p.Gly691Ser	NA	O60433|Q86YS8|Q96PD3	37	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	C	32	5.192950	0.94960	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.40756	1.02;1.02;1.02	5.22	5.22	0.72569	.	0.204699	0.33854	N	0.004493	T	0.54935	0.1889	L	0.52573	1.65	0.48288	D	0.999623	D;D;D	0.67145	0.996;0.995;0.996	P;P;P	0.58210	0.835;0.752;0.835	T	0.52548	-0.8561	10	0.45353	T	0.12	-24.2424	17.9359	0.89012	0.0:1.0:0.0:0.0	.	691;691;691	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	S	691	ENSP00000263377:G691S;ENSP00000360901:G691S;ENSP00000353112:G691S	ENSP00000263377:G691S	G	-	1	0	BRD4	15226050	1.000000	0.71417	0.984000	0.44739	0.942000	0.58702	6.706000	0.74649	2.608000	0.88229	0.462000	0.41574	GGC	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465800.3		-	ENST00000263377.2	Missense_Mutation	SNP	19 : 15365050 - 15365050 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	55
COL6A2	1292	broad.mit.edu	37	21	47532275	47532275	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47532275C>T	ENST00000300527.4	+	3	602	c.498C>T	c.(496-498)acC>acT	p.T166T	COL6A2_ENST00000409416.1_Silent_p.T166T|COL6A2_ENST00000397763.1_Silent_p.T166T|COL6A2_ENST00000310645.5_Silent_p.T166T|COL6A2_ENST00000357838.4_Silent_p.T166T	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	166	Nonhelical region.|VWFA 1.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GCCACGTCACCGGCAGCCCCT	0.701		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	21		NA											NA				47532275		2141	4192	6333	SO:0001819	synonymous_variant			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173	NA	1292		Collagens	2212	protein-coding gene	gene with protein product		120240			NA		Standard		NM_001849	NA	Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.498C>T	21.37:g.47532275C>T		NA	Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	37	CCDS13728.1																																																																																			COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206971.1		+	ENST00000300527.4	Silent	SNP	21 : 47532275 - 47532275 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	177	35
ABHD13	84945	broad.mit.edu	37	13	108881891	108881891	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108881891G>A	ENST00000375898.3	+	2	626	c.325G>A	c.(325-327)Gac>Aac	p.D109N		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	109						integral to membrane	hydrolase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ATACACTGGAGACAATTCACC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(22;506 789 38166 45896 51596)							NA				0													80	75	76			NA	NA	13		NA											NA				108881891		2203	4299	6502	SO:0001583	missense			AK027812	CCDS32007.1	13q33.2	2007-04-03	2006-03-10	2006-03-10	ENSG00000139826	ENSG00000139826	84945	84945		Abhydrolase domain containing	20293	protein-coding gene	gene with protein product			chromosome 13 open reading frame 6	C13orf6	NA		Standard	NM_032859	NM_032859	NA	Approved	bA153I24.2, FLJ14906, BEM46L1	uc001vqq.3	Q7L211	OTTHUMG00000017330	ENST00000375898.3:c.325G>A	13.37:g.108881891G>A	ENSP00000365063:p.Asp109Asn	NA	B3KWE7|Q8NBW1|Q96JX9	37	CCDS32007.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059846	0.36373	.	.	ENSG00000139826	ENST00000375898	T	0.19806	2.12	5.89	5.04	0.67666	.	0.103313	0.64402	D	0.000004	T	0.12092	0.0294	N	0.10874	0.06	0.52501	D	0.999955	B	0.19445	0.036	B	0.12837	0.008	T	0.13791	-1.0496	10	0.25106	T	0.35	-23.612	14.5609	0.68136	0.0711:0.0:0.9289:0.0	.	109	Q7L211	ABHDD_HUMAN	N	109	ENSP00000365063:D109N	ENSP00000365063:D109N	D	+	1	0	ABHD13	107679892	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.352000	0.97076	2.788000	0.95919	0.557000	0.71058	GAC	ABHD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045743.1		+	ENST00000375898.3	Missense_Mutation	SNP	13 : 108881891 - 108881891 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	51
NLGN2	57555	broad.mit.edu	37	17	7315515	7315515	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7315515C>T	ENST00000302926.2	+	2	570	c.497C>T	c.(496-498)cCg>cTg	p.P166L	NLGN2_ENST00000575301.1_Missense_Mutation_p.P166L	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	166					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity	p.P166L(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				ACGCTCAATCCGCCAGACACA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											74	73	73			NA	NA	17		NA											NA				7315515		2203	4300	6503	SO:0001583	missense			AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992	57555	57555			14290	protein-coding gene	gene with protein product		606479			NA	10767552, 10819331	Standard	NM_020795	NM_020795	NA	Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.497C>T	17.37:g.7315515C>T	ENSP00000305288:p.Pro166Leu	NA	Q9P2I1	37	CCDS11103.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.446465	0.25987	.	.	ENSG00000169992	ENST00000302926	T	0.67345	-0.26	5.47	5.47	0.80525	Carboxylesterase, type B (1);	1.061950	0.07418	N	0.893516	T	0.51534	0.1680	N	0.08118	0	0.53688	D	0.999978	B	0.09022	0.002	B	0.01281	0.0	T	0.11131	-1.0600	10	0.33141	T	0.24	.	15.1723	0.72884	0.0:1.0:0.0:0.0	.	166	Q8NFZ4	NLGN2_HUMAN	L	166	ENSP00000305288:P166L	ENSP00000305288:P166L	P	+	2	0	NLGN2	7256239	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.133000	0.57983	2.729000	0.93468	0.555000	0.69702	CCG	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226941.2		+	ENST00000302926.2	Missense_Mutation	SNP	17 : 7315515 - 7315515 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	463	83
EML1	2009	broad.mit.edu	37	14	100405613	100405613	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100405613C>T	ENST00000262233.6	+	21	2410	c.2271C>T	c.(2269-2271)ggC>ggT	p.G757G	EML1_ENST00000327921.9_Silent_p.G745G|EML1_ENST00000334192.4_Silent_p.G776G	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	757						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TGTCAACAGGCGACGACTTTG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	116	120			NA	NA	14		NA											NA				100405613		2203	4300	6503	SO:0001819	synonymous_variant			AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629	2009	2009		WD repeat domain containing	3330	protein-coding gene	gene with protein product		602033		EMAPL	NA	9226380, 10521658	Standard	NM_001008707	XM_005267397	NA	Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.2271C>T	14.37:g.100405613C>T		NA	Q86U15|Q8N536|Q8N5C4|Q8WWL6	37	CCDS32155.1																																																																																			EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413943.1		+	ENST00000262233.6	Silent	SNP	14 : 100405613 - 100405613 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	333	65
SYT12	91683	broad.mit.edu	37	11	66816068	66816068	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66816068G>A	ENST00000393946.2	+	11	2268	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H	SYT12_ENST00000525457.1_Missense_Mutation_p.R369H|SYT12_ENST00000527043.1_Missense_Mutation_p.R369H			Q8IV01	SYT12_HUMAN	synaptotagmin XII	369	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane		p.R369H(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CTGTCTCTCCGCGTGACGGTG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(65;2862 3307)							NA				1	Substitution - Missense(1)	endometrium(1)						G	HIS/ARG,HIS/ARG	0,4400		0,0,2200	74	63	67		1106,1106	4.6	1	11		67	1,8589	1.2+/-3.3	0,1,4294	no	missense,missense	SYT12	NM_001177880.1,NM_177963.3	29,29	0,1,6494	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging	369/422,369/422	66816068	1,12989	2200	4295	6495	SO:0001583	missense			AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227	91683	91683		Synaptotagmins	18381	protein-coding gene	gene with protein product		606436			NA	8987811	Standard	NM_177963	NM_177963	NA	Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.1106G>A	11.37:g.66816068G>A	ENSP00000377520:p.Arg369His	NA		37	CCDS8154.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681759	0.88542	0.0	1.16E-4	ENSG00000173227	ENST00000393946;ENST00000525457;ENST00000527043	T;T;T	0.68624	-0.34;-0.34;-0.34	4.59	4.59	0.56863	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.71937	0.3399	L	0.37800	1.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66056	-0.6018	10	0.14656	T	0.56	.	15.2877	0.73843	0.0:0.0:1.0:0.0	.	369	Q8IV01	SYT12_HUMAN	H	369	ENSP00000377520:R369H;ENSP00000431400:R369H;ENSP00000435316:R369H	ENSP00000377520:R369H	R	+	2	0	SYT12	66572644	1.000000	0.71417	0.953000	0.39169	0.974000	0.67602	9.783000	0.99037	2.270000	0.75569	0.462000	0.41574	CGC	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393129.1		+	ENST00000393946.2	Missense_Mutation	SNP	11 : 66816068 - 66816068 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	412	71
KIAA1737	0	broad.mit.edu	37	14	77576198	77576198	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77576198C>T	ENST00000555611.1	+	3	312	c.180C>T	c.(178-180)tcC>tcT	p.S60S	RP11-463C8.4_ENST00000557752.1_Intron|KIAA1737_ENST00000361786.2_Silent_p.S60S|KIAA1737_ENST00000555437.1_Intron			Q9C0C6	K1737_HUMAN		60										endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		AGATGGAGTCCGAGGACATGC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	110	112			NA	NA	14		NA											NA				77576198		2203	4300	6503	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000555611.1:c.180C>T	14.37:g.77576198C>T		NA	B2RCI1|Q8N389|Q8NDZ1	37																																																																																				KIAA1737-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000414281.1		+	ENST00000555611.1	Silent	SNP	14 : 77576198 - 77576198 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	463	91
C3	718	broad.mit.edu	37	19	6686219	6686219	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6686219C>T	ENST00000245907.6	-	29	3818	c.3726G>A	c.(3724-3726)caG>caA	p.Q1242Q		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1242					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AGTCTTTTAGCTGCAGTAGGG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													229	211	217			NA	NA	19		NA											NA				6686219		2203	4300	6503	SO:0001819	synonymous_variant			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	718	718	3.4.21.43	Complement system, Endogenous ligands	1318	protein-coding gene	gene with protein product	C3a anaphylatoxin, complement component C3a, complement component C3b, prepro-C3	120700			NA		Standard	NM_000064	NM_000064	NA	Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.3726G>A	19.37:g.6686219C>T		NA	A7E236	37	CCDS32883.1																																																																																			C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317636.2		-	ENST00000245907.6	Silent	SNP	19 : 6686219 - 6686219 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	984	238
MYBBP1A	10514	broad.mit.edu	37	17	4449013	4449013	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4449013C>T	ENST00000254718.4	-	15	2271	c.1965G>A	c.(1963-1965)ttG>ttA	p.L655L	MYBBP1A_ENST00000381556.2_Silent_p.L655L			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	655					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						ACAGGGCCAGCAAGATCTCCA	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	28	28			NA	NA	17		NA											NA				4449013		2198	4298	6496	SO:0001819	synonymous_variant			AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382	10514	10514			7546	protein-coding gene	gene with protein product	p53-activated protein-2	604885			NA	10644447	Standard	NM_014520	NM_014520	NA	Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.1965G>A	17.37:g.4449013C>T		NA	Q86VM3|Q9BW49|Q9P0V5|Q9UF99	37	CCDS11046.1																																																																																			MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207488.2		-	ENST00000254718.4	Silent	SNP	17 : 4449013 - 4449013 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	161	35
SAMD9	54809	broad.mit.edu	37	7	92734864	92734864	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92734864G>A	ENST00000379958.2	-	3	816	c.547C>T	c.(547-549)Cct>Tct	p.P183S		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	183						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CCTGTTTCAGGCTGTAGACTA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	139	142			NA	NA	7		NA											NA				92734864		2203	4300	6503	SO:0001583	missense			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413	54809	54809		Sterile alpha motif (SAM) domain containing	1348	protein-coding gene	gene with protein product		610456	chromosome 7 open reading frame 5	C7orf5	NA		Standard	NM_017654	NM_017654	NA	Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.547C>T	7.37:g.92734864G>A	ENSP00000369292:p.Pro183Ser	NA	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	37	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902058	0.33628	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.15139	2.45;2.45	4.7	4.7	0.59300	.	0.076196	0.52532	D	0.000067	T	0.23572	0.0570	L	0.55990	1.75	0.27564	N	0.950106	P	0.47841	0.901	P	0.44696	0.458	T	0.08146	-1.0736	10	0.72032	D	0.01	.	16.7006	0.85349	0.0:0.0:1.0:0.0	.	183	Q5K651	SAMD9_HUMAN	S	183	ENSP00000369292:P183S;ENSP00000414529:P183S	ENSP00000369292:P183S	P	-	1	0	SAMD9	92572800	1.000000	0.71417	0.998000	0.56505	0.133000	0.20885	6.510000	0.73729	2.613000	0.88420	0.603000	0.83216	CCT	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341761.1		-	ENST00000379958.2	Missense_Mutation	SNP	7 : 92734864 - 92734864 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	540	167
ANK2	287	broad.mit.edu	37	4	114282046	114282046	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114282046C>A	ENST00000357077.4	+	39	10802	c.10749C>A	c.(10747-10749)agC>agA	p.S3583R	ANK2_ENST00000509550.1_Missense_Mutation_p.S674R|ANK2_ENST00000506722.1_Missense_Mutation_p.S1489R|ANK2_ENST00000394537.3_Missense_Mutation_p.S1498R|ANK2_ENST00000264366.6_Missense_Mutation_p.S3550R|ANK2_ENST00000510275.2_Missense_Mutation_p.S150R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3550	Death.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTGGCTTCAGCTGGACAGGTA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	104	109			NA	NA	4		NA											NA				114282046		2203	4300	6503	SO:0001583	missense			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362	287	287		Ankyrin repeat domain containing	493	protein-coding gene	gene with protein product		106410	long (electrocardiographic) QT syndrome 4	LQT4	NA	7485162, 12571597	Standard	NM_001148	NM_001148	NA	Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.10749C>A	4.37:g.114282046C>A	ENSP00000349588:p.Ser3583Arg	NA	Q01485|Q08AC7|Q08AC8|Q7Z3L5	37	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.15|18.15	3.560749|3.560749	0.65538|0.65538	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000514960;ENST00000504415|ENST00000506722;ENST00000431447;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275;ENST00000505342	.|D;D;D;D;D;D;D	.|0.85556	.|-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	5.52|5.52	4.56|4.56	0.56223|0.56223	.|.	.|0.173471	.|0.40385	.|N	.|0.001109	D|D	0.91331|0.91331	0.7266|0.7266	M|M	0.77313|0.77313	2.365|2.365	0.39653|0.39653	D|D	0.970495|0.970495	.|D;D;D;D;D;D	.|0.89917	.|0.985;0.999;0.985;0.995;1.0;0.975	.|D;D;D;D;D;P	.|0.91635	.|0.914;0.988;0.936;0.975;0.999;0.837	D|D	0.92053|0.92053	0.5650|0.5650	5|10	.|0.62326	.|D	.|0.03	.|.	12.2485|12.2485	0.54585|0.54585	0.0:0.8502:0.0:0.1498|0.0:0.8502:0.0:0.1498	.|.	.|674;533;499;1498;3583;1489	.|E9PCH6;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5	.|.;.;.;.;.;.	M|R	500;151|1489;533;1498;3583;3550;1489;674;150;593	.|ENSP00000421067:S1489R;ENSP00000378044:S1498R;ENSP00000349588:S3583R;ENSP00000264366:S3550R;ENSP00000426944:S674R;ENSP00000421023:S150R;ENSP00000422498:S593R	.|ENSP00000264366:S3550R	L|S	+|+	1|3	2|2	ANK2|ANK2	114501495|114501495	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.604000|0.604000	0.24164|0.24164	2.603000|2.603000	0.88011|0.88011	0.557000|0.557000	0.71058|0.71058	CTG|AGC	ANK2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256422.2		+	ENST00000357077.4	Missense_Mutation	SNP	4 : 114282046 - 114282046 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	78	8
SERPIND1	3053	broad.mit.edu	37	22	21134137	21134137	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21134137G>A	ENST00000215727.5	+	2	820	c.537G>A	c.(535-537)tcG>tcA	p.S179S	PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Silent_p.S179S|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	179					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	AAGTGCACTCGATTTTGCATT	0.433		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	106	104	104		537,	-11.9	0	22		104	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron	SERPIND1,PI4KA	NM_000185.3,NM_058004.3	,	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	,	179/500,	21134137	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937	3053	3053		Serine (or cysteine) peptidase inhibitors	4838	protein-coding gene	gene with protein product	heparin cofactor II	142360	serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1	HCF2	NA	1671335, 24172014	Standard	NM_000185	XM_005261597	NA	Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.537G>A	22.37:g.21134137G>A		NA	B2RAI1|D3DX34|Q6IBZ5	37	CCDS13783.1																																																																																			SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319961.1		+	ENST00000215727.5	Silent	SNP	22 : 21134137 - 21134137 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	481	98
BBS4	585	broad.mit.edu	37	15	72987519	72987519	+	Splice_Site	SNP	G	G	T	rs113994184		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72987519G>T	ENST00000268057.4	+	2	67	c.26G>T	c.(25-27)aGa>aTa	p.R9I	BBS4_ENST00000539603.1_5'UTR|BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000542334.1_Intron|BBS4_ENST00000395205.2_Splice_Site_p.R17I	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	9	Required for localization to centrosomes.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						TCATTTCAGAGAACTCAATTT	0.353		NA							Bardet-Biedl syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	78	77			NA	NA	15		NA											NA				72987519		2198	4296	6494	SO:0001630	splice_region_variant	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463	585	585		Tetratricopeptide (TTC) repeat domain containing	969	protein-coding gene	gene with protein product		600374			NA	7711739, 11381270	Standard	NM_033028	NM_033028	NA	Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.25-1G>T	15.37:g.72987519G>T		NA	Q53DZ5|Q8NHU9|Q96H45	37	CCDS10246.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.395838	0.25205	.	.	ENSG00000140463	ENST00000268057;ENST00000395205	T;T	0.71461	-0.55;-0.57	3.33	-0.121	0.13535	.	0.793638	0.11520	N	0.555855	T	0.46852	0.1414	N	0.11427	0.14	0.80722	D	1	P;B	0.35656	0.514;0.001	B;B	0.35688	0.208;0.002	T	0.22941	-1.0202	10	0.44086	T	0.13	-1.6484	5.3806	0.16189	0.5246:0.0:0.4754:0.0	.	17;9	Q96RK4-2;Q96RK4	.;BBS4_HUMAN	I	9;17	ENSP00000268057:R9I;ENSP00000378631:R17I	ENSP00000268057:R9I	R	+	2	0	BBS4	70774572	0.998000	0.40836	0.998000	0.56505	0.860000	0.49131	0.039000	0.13884	-0.015000	0.14150	0.591000	0.81541	AGA	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257473.2	Missense_Mutation	+	ENST00000268057.4	Splice_Site	SNP	15 : 72987519 - 72987519 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	297	51
FLOT1	10211	broad.mit.edu	37	6	30709395	30709395	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30709395G>A	ENST00000376389.3	-	4	426	c.206C>T	c.(205-207)gCc>gTc	p.A69V	FLOT1_ENST00000470643.1_Intron|FLOT1_ENST00000456573.2_Missense_Mutation_p.A69V	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN	flotillin 1	69						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						CTTCACCTGGGCAATGCCAGT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	177	169			NA	NA	6		NA											NA				30709395		1510	2708	4218	SO:0001583	missense			AF089750	CCDS4688.1	6p21.3	2010-02-17			ENSG00000137312	ENSG00000137312	10211	10211			3757	protein-coding gene	gene with protein product		606998			NA		Standard		XM_005248780	NA	Approved		uc003nrm.3	O75955	OTTHUMG00000031151	ENST00000376389.3:c.206C>T	6.37:g.30709395G>A	ENSP00000365569:p.Ala69Val	NA	Q969J8|Q9UHW1|Q9UNV8	37	CCDS4688.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.818336	0.90790	.	.	ENSG00000137312	ENST00000376389;ENST00000456573;ENST00000438162;ENST00000445853;ENST00000454845	D;T;D;D;D	0.93366	-3.21;0.68;-3.21;-3.21;-3.21	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.95868	0.8655	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96272	0.9199	10	0.87932	D	0	-3.4168	15.3399	0.74287	0.0:0.0:1.0:0.0	.	69;69	B4DVY7;O75955	.;FLOT1_HUMAN	V	69	ENSP00000365569:A69V;ENSP00000394375:A69V;ENSP00000400615:A69V;ENSP00000398834:A69V;ENSP00000391341:A69V	ENSP00000365569:A69V	A	-	2	0	FLOT1	30817374	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.177000	0.94849	2.476000	0.83614	0.313000	0.20887	GCC	FLOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076276.2		-	ENST00000376389.3	Missense_Mutation	SNP	6 : 30709395 - 30709395 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	872	154
SARDH	1757	broad.mit.edu	37	9	136594899	136594899	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136594899G>A	ENST00000371872.4	-	6	1160	c.903C>T	c.(901-903)atC>atT	p.I301I	SARDH_ENST00000422262.2_Silent_p.I133I|SARDH_ENST00000298628.5_Silent_p.I301I|SARDH_ENST00000439388.1_Silent_p.I301I|SARDH_ENST00000371867.1_Silent_p.I212I	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	301					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GAATCCCCTCGATGCGCTCGG	0.632		NA											G	1	5e-04	NA	NA	2184	NA	0.9999	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.8642	EXOME	NA	NA	8e-04	SNP								NA				0													98	82	87			NA	NA	9		NA											NA				136594899		2203	4300	6503	SO:0001819	synonymous_variant				CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1757	1757	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1	NA	10444331	Standard		NM_007101	NA	Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.903C>T	9.37:g.136594899G>A		NA	B2RMR5|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	37	CCDS6978.1																																																																																			SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054931.1		-	ENST00000371872.4	Silent	SNP	9 : 136594899 - 136594899 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	392	79
FBXO18	84893	broad.mit.edu	37	10	5945034	5945034	+	Missense_Mutation	SNP	C	C	T	rs146471049		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5945034C>T	ENST00000379999.5	+	3	310	c.206C>T	c.(205-207)gCt>gTt	p.A69V	FBXO18_ENST00000362091.4_Missense_Mutation_p.A18V|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_Intron	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	18					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CAGCATTTGGCTCGGAGTCAC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	105	92	96		206,53	5.4	1	10	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FBXO18	NM_032807.3,NM_178150.1	64,64	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	69/1095,18/1044	5945034	1,13005	2203	4300	6503	SO:0001583	missense			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452	84893	84893		F-boxes /  other	13620	protein-coding gene	gene with protein product		607222	F-box only protein 18		NA	10531037, 11956208	Standard	NM_032807	NM_032807	NA	Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000379999.5:c.206C>T	10.37:g.5945034C>T	ENSP00000369335:p.Ala69Val	NA	Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	37	CCDS7073.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.690765	0.48097	0.0	1.16E-4	ENSG00000134452	ENST00000362091;ENST00000379999	.	.	.	5.42	5.42	0.78866	.	0.313315	0.32372	N	0.006184	T	0.50103	0.1596	L	0.53249	1.67	0.80722	D	1	P;B	0.38827	0.649;0.376	B;B	0.33454	0.164;0.079	T	0.56505	-0.7968	9	0.59425	D	0.04	-9.9585	12.1561	0.54077	0.0:0.9177:0.0:0.0823	.	69;18	Q8NFZ0-2;Q8NFZ0	.;FBX18_HUMAN	V	18;69	.	ENSP00000355415:A18V	A	+	2	0	FBXO18	5985040	0.064000	0.20934	0.997000	0.53966	0.328000	0.28507	1.720000	0.38022	2.536000	0.85505	0.655000	0.94253	GCT	FBXO18-010	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046597.1		+	ENST00000379999.5	Missense_Mutation	SNP	10 : 5945034 - 5945034 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	283	51
DFNB31	25861	broad.mit.edu	37	9	117185786	117185786	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117185786C>A	ENST00000362057.3	-	7	1602	c.1434G>T	c.(1432-1434)gaG>gaT	p.E478D	DFNB31_ENST00000265134.6_Missense_Mutation_p.E95D|DFNB31_ENST00000374059.3_Missense_Mutation_p.E127D	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	478					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGCCTCTCACCTCAGAGAGGA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	56	56			NA	NA	9		NA											NA				117185786		2203	4300	6503	SO:0001583	missense			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397	25861	25861			16361	protein-coding gene	gene with protein product	whirlin	607928			NA	12833159, 17171570	Standard	NM_015404	NM_015404	NA	Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.1434G>T	9.37:g.117185786C>A	ENSP00000354623:p.Glu478Asp	NA	A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	37	CCDS6806.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702839	0.48307	.	.	ENSG00000095397	ENST00000265134;ENST00000374059;ENST00000362057	T;T;T	0.13089	3.48;3.44;2.62	5.3	2.45	0.29901	.	0.206212	0.42548	N	0.000694	T	0.11922	0.0290	L	0.46947	1.48	0.52501	D	0.999955	B;B;B	0.29590	0.063;0.25;0.174	B;B;B	0.31390	0.129;0.129;0.126	T	0.09164	-1.0687	10	0.49607	T	0.09	-27.4925	6.1806	0.20470	0.1321:0.6567:0.0:0.2112	.	478;478;127	B9EGE6;Q9P202;Q9P202-4	.;WHRN_HUMAN;.	D	95;127;478	ENSP00000265134:E95D;ENSP00000363172:E127D;ENSP00000354623:E478D	ENSP00000265134:E95D	E	-	3	2	DFNB31	116225607	0.999000	0.42202	0.993000	0.49108	0.984000	0.73092	0.725000	0.25970	0.240000	0.21263	0.555000	0.69702	GAG	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053776.2		-	ENST00000362057.3	Missense_Mutation	SNP	9 : 117185786 - 117185786 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	458	48
KIAA1257	57501	broad.mit.edu	37	3	128711980	128711980	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128711980C>A	ENST00000265068.5	-	2	335	c.168G>T	c.(166-168)gaG>gaT	p.E56D	KIAA1257_ENST00000511438.1_Missense_Mutation_p.E56D|KIAA1257_ENST00000510149.1_Intron	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	56										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						CAGATGAGGACTCGATGCTGC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	107	103			NA	NA	3		NA											NA				128711980		2157	4257	6414	SO:0001583	missense			AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656	57501	57501			29231	protein-coding gene	gene with protein product					NA	10574462	Standard	NM_020741	NM_020741	NA	Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.168G>T	3.37:g.128711980C>A	ENSP00000265068:p.Glu56Asp	NA	Q8IXY7|Q8N5T4	37	CCDS46905.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926960	0.34002	.	.	ENSG00000114656	ENST00000511438;ENST00000265068	.	.	.	4.37	-3.11	0.05299	.	.	.	.	.	T	0.13841	0.0335	N	0.24115	0.695	0.09310	N	0.999999	P;P	0.37330	0.59;0.59	B;B	0.31614	0.133;0.133	T	0.14200	-1.0481	8	0.51188	T	0.08	-2.8392	2.5278	0.04695	0.4419:0.2146:0.2505:0.0929	.	56;56	Q9ULG3;D6RH05	K1257_HUMAN;.	D	56	.	ENSP00000265068:E56D	E	-	3	2	KIAA1257	130194670	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.763000	0.04740	-0.451000	0.07097	-1.398000	0.01145	GAG	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358430.1		-	ENST00000265068.5	Missense_Mutation	SNP	3 : 128711980 - 128711980 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	645	124
NIPBL	25836	broad.mit.edu	37	5	37059079	37059079	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37059079G>A	ENST00000282516.8	+	44	7996	c.7497G>A	c.(7495-7497)agG>agA	p.R2499R	NIPBL_ENST00000448238.2_Silent_p.R2499R	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2499					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AAGTTTCCAGGCCTCGGAAGT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	123	122			NA	NA	5		NA											NA				37059079		2203	4300	6503	SO:0001819	synonymous_variant			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190	25836	25836			28862	protein-coding gene	gene with protein product	sister chromatid cohesion 2 homolog (yeast)	608667			NA	15146186, 15146185	Standard	NM_015384	NM_133433	NA	Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.7497G>A	5.37:g.37059079G>A		NA	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	9.501	1.103346	0.20632	.	.	ENSG00000164190	ENST00000507919	.	.	.	5.85	0.934	0.19477	.	.	.	.	.	T	0.53594	0.1806	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41963	-0.9479	4	.	.	.	-10.4478	6.6505	0.22959	0.3878:0.1117:0.5005:0.0	.	.	.	.	D	5	.	.	G	+	2	0	NIPBL	37094836	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	1.177000	0.31969	0.098000	0.17522	-0.251000	0.11542	GGC	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207582.1		+	ENST00000282516.8	Silent	SNP	5 : 37059079 - 37059079 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	552	75
VIM	7431	broad.mit.edu	37	10	17277377	17277377	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17277377C>A	ENST00000224237.5	+	6	1363	c.1218C>A	c.(1216-1218)ggC>ggA	p.G406G	VIM_ENST00000544301.1_Silent_p.G406G			P08670	VIME_HUMAN	vimentin	406	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGCTGGAAGGCGAGGAGAGCA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	79	80			NA	NA	10		NA											NA				17277377		2203	4300	6503	SO:0001819	synonymous_variant			M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025	7431	7431		Intermediate filaments type III	12692	protein-coding gene	gene with protein product		193060			NA		Standard	NM_003380	NM_003380	NA	Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.1218C>A	10.37:g.17277377C>A		NA	B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	37	CCDS7120.1																																																																																			VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047015.1		+	ENST00000224237.5	Silent	SNP	10 : 17277377 - 17277377 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	342	62
CYP19A1	1588	broad.mit.edu	37	15	51529135	51529135	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51529135C>T	ENST00000396402.1	-	3	370	c.217G>A	c.(217-219)Gcc>Acc	p.A73T	RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Missense_Mutation_p.A73T|CYP19A1_ENST00000396404.4_Missense_Mutation_p.A73T|CYP19A1_ENST00000405913.3_Missense_Mutation_p.A73T|CYP19A1_ENST00000557858.1_Missense_Mutation_p.A73T|CYP19A1_ENST00000559878.1_Missense_Mutation_p.A73T	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	73					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	TAGTTGCAGGCACTGCCGATC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(142;1016 1807 39614 48966 51721)							NA				0													108	102	104			NA	NA	15		NA											NA				51529135		2196	4293	6489	SO:0001583	missense			D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869	NA	1588		Cytochrome P450s	2594	protein-coding gene	gene with protein product		107910	cytochrome P450, subfamily XIX (aromatization of androgens)	CYP19	NA	8477708	Standard		NM_031226	NA	Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.217G>A	15.37:g.51529135C>T	ENSP00000379683:p.Ala73Thr	NA	Q16731|Q3B764|Q58FA0	37	CCDS10139.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441462	0.63067	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000541721;ENST00000396404;ENST00000420301;ENST00000439712;ENST00000405913;ENST00000453807;ENST00000405011	T;T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.98	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.80539	0.4642	M	0.91196	3.185	0.80722	D	1	B;P	0.37038	0.253;0.579	B;P	0.47162	0.101;0.54	D	0.83742	0.0204	10	0.66056	D	0.02	-15.5037	14.5829	0.68305	0.0:0.9301:0.0:0.0699	.	73;73	Q8IYJ7;P11511	.;CP19A_HUMAN	T	73	ENSP00000379683:A73T;ENSP00000260433:A73T;ENSP00000379685:A73T;ENSP00000390614:A73T;ENSP00000383930:A73T;ENSP00000391139:A73T;ENSP00000384389:A73T	ENSP00000260433:A73T	A	-	1	0	CYP19A1	49316427	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	5.600000	0.67599	1.542000	0.49330	0.655000	0.94253	GCC	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254669.1		-	ENST00000396402.1	Missense_Mutation	SNP	15 : 51529135 - 51529135 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	635	127
CCDC158	339965	broad.mit.edu	37	4	77288498	77288498	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77288498A>G	ENST00000388914.3	-	11	1931	c.1779T>C	c.(1777-1779)gcT>gcC	p.A593A		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	593										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TCTCCAGTTGAGCTTTTTCTA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	104	105			NA	NA	4		NA											NA				77288498		1887	4103	5990	SO:0001819	synonymous_variant			BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749	339965	339965			26374	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_001042784	NM_001042784	NA	Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.1779T>C	4.37:g.77288498A>G		NA	Q8IYQ1|Q8N7D4|Q8N7E3	37	CCDS43242.1																																																																																			CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362694.2		-	ENST00000388914.3	Silent	SNP	4 : 77288498 - 77288498 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	577	96
WNK4	65266	broad.mit.edu	37	17	40940387	40940387	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40940387C>A	ENST00000246914.5	+	10	2023	c.2002C>A	c.(2002-2004)Ctc>Atc	p.L668I	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	668					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AGGGAGGAATCTCCGGCGCAG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(6;201 374 4964 23855 42828)							NA				0													46	47	47			NA	NA	17		NA											NA				40940387		2203	4300	6503	SO:0001583	missense			AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562	65266	65266			14544	protein-coding gene	gene with protein product		601844	protein kinase, lysine deficient 4	PRKWNK4	NA		Standard		NM_032387	NA	Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.2002C>A	17.37:g.40940387C>A	ENSP00000246914:p.Leu668Ile	NA	Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	37	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368188	0.42003	.	.	ENSG00000126562	ENST00000246914;ENST00000316085;ENST00000442804	T	0.26373	1.74	5.35	4.37	0.52481	.	0.324291	0.22432	N	0.060131	T	0.19927	0.0479	L	0.34521	1.04	0.30195	N	0.799179	B;B;B;B	0.27351	0.11;0.176;0.11;0.11	B;B;B;B	0.26202	0.046;0.067;0.016;0.03	T	0.09207	-1.0685	10	0.20046	T	0.44	-9.3155	14.022	0.64560	0.164:0.836:0.0:0.0	.	12;668;668;668	B4DXG4;Q96J92-3;B0LPI0;Q96J92	.;.;.;WNK4_HUMAN	I	668;440;12	ENSP00000246914:L668I	ENSP00000246914:L668I	L	+	1	0	WNK4	38193913	0.214000	0.23563	0.998000	0.56505	0.947000	0.59692	2.077000	0.41557	1.217000	0.43442	-0.425000	0.05940	CTC	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452389.1		+	ENST00000246914.5	Missense_Mutation	SNP	17 : 40940387 - 40940387 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	288	46
GPR133	283383	broad.mit.edu	37	12	131466502	131466502	+	Missense_Mutation	SNP	G	G	T	rs138627746		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:131466502G>T	ENST00000535015.1	+	6	510	c.480G>T	c.(478-480)caG>caT	p.Q160H	GPR133_ENST00000261654.5_Missense_Mutation_p.Q128H			Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	128					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ATGGGGGACAGGTCATCTCCA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	124	128			NA	NA	12		NA											NA				131466502		2203	4300	6503	SO:0001583	missense			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452	283383	283383		-, GPCR / Class B : Orphans	19893	protein-coding gene	gene with protein product		613639			NA		Standard	NM_198827	NM_198827	NA	Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000535015.1:c.480G>T	12.37:g.131466502G>T	ENSP00000444425:p.Gln160His	NA	Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	37		.	.	.	.	.	.	.	.	.	.	g	8.347	0.830091	0.16749	.	.	ENSG00000111452	ENST00000261654;ENST00000535015	T;T	0.74106	-0.81;-0.81	4.13	3.21	0.36854	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.072165	0.56097	D	0.000026	T	0.69620	0.3131	M	0.77616	2.38	0.80722	D	1	P;B	0.35551	0.509;0.267	B;B	0.35470	0.203;0.127	T	0.73452	-0.3978	10	0.87932	D	0	.	4.6701	0.12685	0.3171:0.0:0.6829:0.0	.	160;128	B7ZLF7;Q6QNK2	.;GP133_HUMAN	H	128;160	ENSP00000261654:Q128H;ENSP00000444425:Q160H	ENSP00000261654:Q128H	Q	+	3	2	GPR133	130032455	1.000000	0.71417	0.969000	0.41365	0.116000	0.19942	0.698000	0.25571	1.996000	0.58369	0.558000	0.71614	CAG	GPR133-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000399359.1		+	ENST00000535015.1	Missense_Mutation	SNP	12 : 131466502 - 131466502 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	557	113
WDFY3	23001	broad.mit.edu	37	4	85750273	85750273	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85750273G>A	ENST00000295888.4	-	9	1247	c.840C>T	c.(838-840)gtC>gtT	p.V280V	WDFY3_ENST00000322366.6_Silent_p.V280V	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	280						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.V280V(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAAACATTTCGACAATTTCTA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											87	92	90			NA	NA	4		NA											NA				85750273		2203	4300	6503	SO:0001819	synonymous_variant			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625	23001	23001		Zinc fingers, FYVE domain containing, WD repeat domain containing	20751	protein-coding gene	gene with protein product					NA	10231032	Standard	NM_014991	NM_014991	NA	Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.840C>T	4.37:g.85750273G>A		NA	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	37	CCDS3609.1																																																																																			WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252811.2		-	ENST00000295888.4	Silent	SNP	4 : 85750273 - 85750273 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	520	96
GALNT18	374378	broad.mit.edu	37	11	11362395	11362395	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:11362395C>T	ENST00000227756.4	-	7	1660	c.1249G>A	c.(1249-1251)Gtc>Atc	p.V417I		NM_198516.2	NP_940918.2			polypeptide N-acetylgalactosaminyltransferase 18	NA											NA						GCCATGTAGACGTGGCTTTTA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													234	237	236			NA	NA	11		NA											NA				11362395		2201	4294	6495	SO:0001583	missense			AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	374378	374378	2.4.1.41	Glycosyltransferase family 2 domain containing	30488	protein-coding gene	gene with protein product	polypeptide GalNAc transferase 18	615136	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4, UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18	GALNTL4	NA	22186971	Standard	NM_198516	NM_198516	NA	Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.1249G>A	11.37:g.11362395C>T	ENSP00000227756:p.Val417Ile	NA		37	CCDS7807.1	.	.	.	.	.	.	.	.	.	.	C	34	5.345939	0.95807	.	.	ENSG00000110328	ENST00000227756	T	0.40476	1.03	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000002	T	0.58921	0.2156	L	0.56396	1.775	0.58432	D	0.999999	D	0.69078	0.997	D	0.68621	0.959	T	0.48445	-0.9035	10	0.14252	T	0.57	.	18.4818	0.90815	0.0:1.0:0.0:0.0	.	417	Q6P9A2	GLTL4_HUMAN	I	417	ENSP00000227756:V417I	ENSP00000227756:V417I	V	-	1	0	GALNTL4	11318971	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.716000	0.92895	0.561000	0.74099	GTC	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385848.1		-	ENST00000227756.4	Missense_Mutation	SNP	11 : 11362395 - 11362395 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1529	280
TNFSF8	944	broad.mit.edu	37	9	117666368	117666368	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117666368G>A	ENST00000223795.2	-	4	661	c.548C>T	c.(547-549)aCg>aTg	p.T183M	TNFSF8_ENST00000474301.1_Intron	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	183					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						TACGTGTTTCGTTTGCATTCC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													260	225	237			NA	NA	9		NA											NA				117666368		2203	4300	6503	SO:0001583	missense			L09753	CCDS6810.1, CCDS75884.1	9q33	2008-02-05			ENSG00000106952	ENSG00000106952	944	944		Tumor necrosis factor (ligand) superfamily, CD molecules	11938	protein-coding gene	gene with protein product		603875		CD30LG	NA	8391931, 9349718	Standard		NM_001244	NA	Approved	CD153	uc004bji.2	P32971	OTTHUMG00000021025	ENST00000223795.2:c.548C>T	9.37:g.117666368G>A	ENSP00000223795:p.Thr183Met	NA	O43404	37	CCDS6810.1	.	.	.	.	.	.	.	.	.	.	G	9.247	1.039876	0.19669	.	.	ENSG00000106952	ENST00000223795	T	0.45276	0.9	5.78	0.459	0.16678	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.606253	0.16417	N	0.215354	T	0.23054	0.0557	L	0.27053	0.805	0.09310	N	1	P	0.44776	0.843	B	0.35813	0.211	T	0.11743	-1.0575	10	0.66056	D	0.02	-10.4583	6.132	0.20211	0.0703:0.3736:0.4276:0.1285	.	183	P32971	TNFL8_HUMAN	M	183	ENSP00000223795:T183M	ENSP00000223795:T183M	T	-	2	0	TNFSF8	116706189	0.003000	0.15002	0.000000	0.03702	0.007000	0.05969	0.824000	0.27379	-0.172000	0.10779	-0.119000	0.15052	ACG	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055464.1		-	ENST00000223795.2	Missense_Mutation	SNP	9 : 117666368 - 117666368 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	642	95
GLI3	2737	broad.mit.edu	37	7	42005127	42005127	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42005127G>A	ENST00000395925.3	-	15	3628	c.3544C>T	c.(3544-3546)Cgg>Tgg	p.R1182W	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1182					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R1182W(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ACAGCGGGCCGCGGCCCACAC	0.667		NA							Pallister-Hall syndrome;Greig Cephalopolysyndactyly					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											71	86	81			NA	NA	7		NA											NA				42005127		2203	4297	6500	SO:0001583	missense	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571	2737	2737		Zinc fingers, C2H2-type	4319	protein-coding gene	gene with protein product	zinc finger protein GLI3, oncogene GLI3, DNA-binding protein	165240	Greig cephalopolysyndactyly syndrome, GLI-Kruppel family member GLI3, glioma-associated oncogene family zinc finger 3	GCPS, PHS	NA	2118997	Standard	NM_000168	NM_000168	NA	Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3544C>T	7.37:g.42005127G>A	ENSP00000379258:p.Arg1182Trp	NA	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	37	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.555839	0.27827	.	.	ENSG00000106571	ENST00000395925	T	0.13657	2.57	5.67	1.61	0.23674	.	0.106556	0.64402	D	0.000002	T	0.20941	0.0504	N	0.22421	0.69	0.80722	D	1	D	0.89917	1.0	D	0.66979	0.948	T	0.00230	-1.1897	10	0.37606	T	0.19	.	15.1565	0.72746	0.0:0.0:0.5137:0.4863	.	1182	P10071	GLI3_HUMAN	W	1182	ENSP00000379258:R1182W	ENSP00000379258:R1182W	R	-	1	2	GLI3	41971652	1.000000	0.71417	0.015000	0.15790	0.040000	0.13550	3.290000	0.51755	0.008000	0.14787	-0.311000	0.09066	CGG	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250806.3		-	ENST00000395925.3	Missense_Mutation	SNP	7 : 42005127 - 42005127 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1118	186
ADAMTS19	171019	broad.mit.edu	37	5	129030537	129030537	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:129030537A>C	ENST00000274487.4	+	19	3070	c.2925A>C	c.(2923-2925)ccA>ccC	p.P975P	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	975	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ATGAGCAACCATGTCAAACAA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	151	155			NA	NA	5		NA											NA				129030537		2203	4300	6503	SO:0001819	synonymous_variant			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808	171019	171019		ADAM metallopeptidases with thrombospondin type 1 motif	17111	protein-coding gene	gene with protein product		607513	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19		NA	11867212	Standard	NM_133638	NM_133638	NA	Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2925A>C	5.37:g.129030537A>C		NA		37	CCDS4146.1																																																																																			ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250979.2		+	ENST00000274487.4	Silent	SNP	5 : 129030537 - 129030537 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	470	122
CAD	790	broad.mit.edu	37	2	27447894	27447894	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27447894G>A	ENST00000403525.1	+	11	1547	c.1403G>A	c.(1402-1404)cGc>cAc	p.R468H	CAD_ENST00000264705.4_Missense_Mutation_p.R468H			P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	468	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	p.R468H(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CGTAATGAACGCCCCGATGGT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											82	75	77			NA	NA	2		NA											NA				27447894		2203	4300	6503	SO:0001583	missense			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	790	790	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010			NA	8619816, 2565865	Standard		NM_004341	NA	Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.1403G>A	2.37:g.27447894G>A	ENSP00000384510:p.Arg468His	NA	D6W552|Q6P0Q0	37		.	.	.	.	.	.	.	.	.	.	G	27.0	4.791593	0.90367	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.95447	-3.71;-3.71	5.13	5.13	0.70059	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97670	0.9236	M	0.81112	2.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.98	D	0.98423	1.0578	10	0.72032	D	0.01	-1.0777	17.111	0.86674	0.0:0.0:1.0:0.0	.	468;468	F8VPD4;P27708	.;PYR1_HUMAN	H	468	ENSP00000264705:R468H;ENSP00000384510:R468H	ENSP00000264705:R468H	R	+	2	0	CAD	27301398	1.000000	0.71417	0.951000	0.38953	0.816000	0.46133	9.229000	0.95273	2.383000	0.81215	0.462000	0.41574	CGC	CAD-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000324970.1		+	ENST00000403525.1	Missense_Mutation	SNP	2 : 27447894 - 27447894 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	49
OR11H6	122748	broad.mit.edu	37	14	20692788	20692788	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20692788T>C	ENST00000315519.2	+	1	998	c.920T>C	c.(919-921)aTc>aCc	p.I307T		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I307N(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		AATCCCCTTATCTATAGTCTT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	liver(1)											98	101	100			NA	NA	14		NA											NA				20692788		2203	4300	6503	SO:0001583	missense				CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219	122748	122748		GPCR / Class A : Olfactory receptors	15349	protein-coding gene	gene with protein product					NA		Standard		NM_001004480	NA	Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.920T>C	14.37:g.20692788T>C	ENSP00000319071:p.Ile307Thr	NA	Q6IF08	37	CCDS32033.1	.	.	.	.	.	.	.	.	.	.	T	13.20	2.164991	0.38217	.	.	ENSG00000176219	ENST00000315519	T	0.57273	0.41	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000061	T	0.73410	0.3583	H	0.96916	3.905	0.38505	D	0.948328	P	0.45672	0.864	P	0.48770	0.589	D	0.83968	0.0325	10	0.87932	D	0	.	12.6958	0.57003	0.0:0.0:0.0:1.0	.	307	Q8NGC7	O11H6_HUMAN	T	307	ENSP00000319071:I307T	ENSP00000319071:I307T	I	+	2	0	OR11H6	19762628	1.000000	0.71417	0.995000	0.50966	0.156000	0.22039	7.402000	0.79972	2.094000	0.63399	0.386000	0.25728	ATC	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410676.1		+	ENST00000315519.2	Missense_Mutation	SNP	14 : 20692788 - 20692788 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	669	147
TUBB6	84617	broad.mit.edu	37	18	12325894	12325894	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12325894G>A	ENST00000591909.1	+	4	336				TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000317702.5_Missense_Mutation_p.G369D|TUBB6_ENST00000591208.1_3'UTR			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	NA					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		ACCTTCATCGGCAACAGCACG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	147	152			NA	NA	18		NA											NA				12325894		2203	4300	6503	SO:0001627	intron_variant			AK001295	CCDS11858.1	18p11.21	2011-10-10	2011-10-10		ENSG00000176014	ENSG00000176014	84617	84617		Tubulins	20776	protein-coding gene	gene with protein product	tubulin beta MGC4083, class V beta-tubulin	615103	tubulin, beta 6		NA	12477932	Standard	NM_032525	NM_032525	NA	Approved	MGC4083, HsT1601	uc002kqw.3	Q9BUF5	OTTHUMG00000131692	ENST00000591909.1:c.278-3251G>A	18.37:g.12325894G>A		NA	B3KM76|Q9HA42	37		.	.	.	.	.	.	.	.	.	.	G	17.85	3.490287	0.64074	.	.	ENSG00000176014	ENST00000317702;ENST00000417736;ENST00000445717	D	0.82433	-1.61	5.5	5.5	0.81552	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95881	0.8659	H	0.99675	4.695	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.997;0.998	D	0.97688	1.0177	10	0.87932	D	0	.	19.7727	0.96373	0.0:0.0:1.0:0.0	.	341;369	B4DP54;Q9BUF5	.;TBB6_HUMAN	D	369;297;341	ENSP00000318697:G369D	ENSP00000318697:G369D	G	+	2	0	TUBB6	12315894	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	9.666000	0.98612	2.758000	0.94735	0.563000	0.77884	GGC	TUBB6-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000452798.1		+	ENST00000591909.1	Intron	SNP	18 : 12325894 - 12325894 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	964	222
SPSB1	80176	broad.mit.edu	37	1	9416403	9416403	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9416403C>T	ENST00000328089.6	+	2	794	c.453C>T	c.(451-453)caC>caT	p.H151H	SPSB1_ENST00000377399.2_Silent_p.H151H|SPSB1_ENST00000357898.3_Silent_p.H151H	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	151	B30.2/SPRY.				intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		GGCTCTACCACGATGGCAAGA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	74	79			NA	NA	1		NA											NA				9416403		2203	4300	6503	SO:0001819	synonymous_variant				CCDS102.1	1p36.22	2008-02-05			ENSG00000171621	ENSG00000171621	80176	80176			30628	protein-coding gene	gene with protein product		611657			NA	15713673, 12076535	Standard	NM_025106	NM_025106	NA	Approved	SSB-1	uc010oae.2	Q96BD6	OTTHUMG00000001279	ENST00000328089.6:c.453C>T	1.37:g.9416403C>T		NA	A2A275|Q59FA1|Q5TIH9|Q9BRY9|Q9H6C5	37	CCDS102.1																																																																																			SPSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000003727.2		+	ENST00000328089.6	Silent	SNP	1 : 9416403 - 9416403 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	484	46
DCHS2	54798	broad.mit.edu	37	4	155219556	155219556	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155219556A>C	ENST00000357232.4	-	18	4544	c.4545T>G	c.(4543-4545)taT>taG	p.Y1515*		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	NA	Cadherin 13.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAGTCAGAAAATACTCAGTTT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	127	128			NA	NA	4		NA											NA				155219556		2203	4300	6503	SO:0001587	stop_gained			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410	54798	54798		Cadherins / Cadherin-related	23111	protein-coding gene	gene with protein product	cadherin-related family member 7	612486	cadherin-like 27, dachsous 2 (Drosophila)	CDH27, PCDH23	NA	15003449	Standard	NM_001142552	NM_017639	NA	Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.4545T>G	4.37:g.155219556A>C	ENSP00000349768:p.Tyr1515*	NA	Q4W5P9|Q6ZS61|Q9NXU8	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	A	43	9.909025	0.99293	.	.	ENSG00000197410	ENST00000357232	.	.	.	5.76	0.333	0.15943	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3991	0.32574	0.5243:0.0:0.4757:0.0	.	.	.	.	X	1515	.	ENSP00000349768:Y1515X	Y	-	3	2	DCHS2	155439006	1.000000	0.71417	0.490000	0.27465	0.763000	0.43281	1.913000	0.39956	0.191000	0.20236	0.528000	0.53228	TAT	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365281.2		-	ENST00000357232.4	Nonsense_Mutation	SNP	4 : 155219556 - 155219556 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	632	127
ZNF3	7551	broad.mit.edu	37	7	99669413	99669413	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99669413C>T	ENST00000424697.1	-	6	1000	c.694G>A	c.(694-696)Gag>Aag	p.E232K	ZNF3_ENST00000303915.6_Missense_Mutation_p.E232K|ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000299667.4_Missense_Mutation_p.E232K	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	232					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E232K(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			TTCCCACACTCATTACATTCA	0.433		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)											76	85	82			NA	NA	7		NA											NA				99669413		2203	4300	6503	SO:0001583	missense			AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05				7551	7551		Zinc fingers, C2H2-type, -	13089	protein-coding gene	gene with protein product		194510	zinc finger protein 3 (A8-51)		NA		Standard	NM_017715	NM_032924	NA	Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.694G>A	7.37:g.99669413C>T	ENSP00000415358:p.Glu232Lys	NA	D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	37	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252671	0.59212	.	.	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667	T;T;T	0.07327	3.2;3.2;3.2	4.6	4.6	0.57074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000049	T	0.16769	0.0403	L	0.28344	0.845	0.09310	N	1	D;D	0.56746	0.962;0.977	P;D	0.65684	0.702;0.937	T	0.02214	-1.1194	10	0.87932	D	0	-25.5551	15.3141	0.74059	0.0:1.0:0.0:0.0	.	215;232	B3KRP4;P17036	.;ZNF3_HUMAN	K	232	ENSP00000415358:E232K;ENSP00000306372:E232K;ENSP00000299667:E232K	ENSP00000299667:E232K	E	-	1	0	ZNF3	99507349	0.002000	0.14202	0.990000	0.47175	0.993000	0.82548	0.506000	0.22658	2.568000	0.86640	0.655000	0.94253	GAG	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336247.3		-	ENST00000424697.1	Missense_Mutation	SNP	7 : 99669413 - 99669413 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	480	93
OR52I1	390037	broad.mit.edu	37	11	4615834	4615834	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4615834C>T	ENST00000530443.2	+	1	566	c.566C>T	c.(565-567)gCc>gTc	p.A189V	OR52I1_ENST00000450052.2_Missense_Mutation_p.A213V	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATAGCTTTGGCCAGGTTAGCA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													195	182	186			NA	NA	11		NA											NA				4615834		2201	4298	6499	SO:0001583	missense			BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268	390037	390037		GPCR / Class A : Olfactory receptors	15220	protein-coding gene	gene with protein product					NA		Standard	NM_001005169	NM_001005169	NA	Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.566C>T	11.37:g.4615834C>T	ENSP00000436453:p.Ala189Val	NA	Q6IF91	37	CCDS59223.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740802	0.30865	.	.	ENSG00000232268	ENST00000450052;ENST00000530443	T;T	0.73047	-0.71;-0.71	4.96	4.01	0.46588	GPCR, rhodopsin-like superfamily (1);	0.156467	0.29830	N	0.011084	T	0.55033	0.1895	L	0.31371	0.925	0.28777	N	0.900046	B	0.22276	0.067	B	0.25140	0.058	T	0.58978	-0.7540	9	0.33940	T	0.23	-8.131	6.7541	0.23503	0.0:0.7797:0.0:0.2203	.	189	Q8NGK6	O52I1_HUMAN	V	213;189	ENSP00000409094:A213V;ENSP00000436453:A189V	ENSP00000409094:A213V	A	+	2	0	OR52I1	4572410	0.000000	0.05858	1.000000	0.80357	0.974000	0.67602	0.420000	0.21263	1.371000	0.46172	0.555000	0.69702	GCC	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385947.2		+	ENST00000530443.2	Missense_Mutation	SNP	11 : 4615834 - 4615834 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	831	30
TRPM6	140803	broad.mit.edu	37	9	77377865	77377865	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77377865C>A	ENST00000360774.1	-	26	3959	c.3722G>T	c.(3721-3723)aGa>aTa	p.R1241I	TRPM6_ENST00000451710.3_Missense_Mutation_p.R1241I|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1236I|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1236I|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1241I	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1241					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.R1241I(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AGAATGCTTTCTCTTGGCCAG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											103	102	103			NA	NA	9		NA											NA				77377865		2203	4300	6503	SO:0001583	missense			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121	140803	140803		Voltage-gated ion channels / Transient receptor potential cation channels	17995	protein-coding gene	gene with protein product		607009	hypomagnesemia, secondary hypocalcemia	HOMG, HSH	NA	10021370, 12032570, 16382100	Standard	NM_017662	NM_017662	NA	Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.3722G>T	9.37:g.77377865C>A	ENSP00000354006:p.Arg1241Ile	NA	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.105705	0.56291	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.13196	2.61;2.61;2.61;2.61;2.61	5.95	5.04	0.67666	.	0.385921	0.31438	N	0.007644	T	0.14830	0.0358	L	0.36672	1.1	0.18873	N	0.999988	P;P;P	0.38767	0.514;0.523;0.646	B;P;B	0.46419	0.151;0.516;0.29	T	0.14476	-1.0471	10	0.87932	D	0	.	5.425	0.16421	0.0:0.4599:0.3267:0.2134	.	1241;1236;1236	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	I	1241;1241;1236;1236;1241;904;904	ENSP00000354006:R1241I;ENSP00000407341:R1241I;ENSP00000396672:R1236I;ENSP00000354962:R1236I;ENSP00000366060:R1241I	ENSP00000309693:R904I	R	-	2	0	TRPM6	76567685	0.943000	0.32029	0.500000	0.27589	0.877000	0.50540	1.474000	0.35398	2.824000	0.97209	0.655000	0.94253	AGA	TRPM6-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052693.1		-	ENST00000360774.1	Missense_Mutation	SNP	9 : 77377865 - 77377865 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	558	24
SPACA1	81833	broad.mit.edu	37	6	88763711	88763711	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88763711G>A	ENST00000237201.1	+	2	373	c.256G>A	c.(256-258)Gtt>Att	p.V86I		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	86						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		AATGTGCACCGTTACATGTGG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	89	90			NA	NA	6		NA											NA				88763711		2203	4300	6503	SO:0001583	missense			AF203447	CCDS5014.1	6q15	2012-09-20			ENSG00000118434	ENSG00000118434	81833	81833			14967	protein-coding gene	gene with protein product		612739			NA		Standard		NM_030960	NA	Approved	SAMP32	uc003pmn.3	Q9HBV2	OTTHUMG00000015183	ENST00000237201.1:c.256G>A	6.37:g.88763711G>A	ENSP00000237201:p.Val86Ile	NA		37	CCDS5014.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215641	0.58452	.	.	ENSG00000118434	ENST00000237201	T	0.32023	1.47	5.98	5.98	0.97165	.	0.000000	0.56097	D	0.000040	T	0.36054	0.0953	M	0.67953	2.075	0.33814	D	0.628257	D	0.65815	0.995	P	0.50570	0.644	T	0.35475	-0.9787	10	0.87932	D	0	-14.1554	18.6239	0.91331	0.0:0.0:1.0:0.0	.	86	Q9HBV2	SACA1_HUMAN	I	86	ENSP00000237201:V86I	ENSP00000237201:V86I	V	+	1	0	SPACA1	88820430	1.000000	0.71417	0.934000	0.37439	0.391000	0.30476	6.055000	0.71103	2.838000	0.97847	0.655000	0.94253	GTT	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041459.1		+	ENST00000237201.1	Missense_Mutation	SNP	6 : 88763711 - 88763711 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	223	40
FASN	2194	broad.mit.edu	37	17	80042511	80042511	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80042511G>A	ENST00000306749.2	-	27	4864	c.4646C>T	c.(4645-4647)tCc>tTc	p.S1549F		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1549					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GCGCAGCGAGGAGCAGACCCA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(59;314 1043 11189 28578 32273)							NA				0													35	34	34			NA	NA	17		NA											NA				80042511		2185	4292	6477	SO:0001583	missense			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2194	2194	2.3.1.85	Short chain dehydrogenase/reductase superfamily / Atypical members	3594	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 27X, member 1	600212			NA	7835891, 7567999, 19027726	Standard	NM_004104	NM_004104	NA	Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.4646C>T	17.37:g.80042511G>A	ENSP00000304592:p.Ser1549Phe	NA	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	37	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249919	0.80024	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.29142	1.58	4.35	4.35	0.52113	Polyketide synthase, enoylreductase (1);	0.000000	0.85682	D	0.000000	T	0.54759	0.1878	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61431	-0.7064	10	0.87932	D	0	-28.1803	16.8449	0.85978	0.0:0.0:1.0:0.0	.	1549	P49327	FAS_HUMAN	F	1549;514	ENSP00000304592:S1549F	ENSP00000304592:S1549F	S	-	2	0	FASN	77635800	1.000000	0.71417	0.913000	0.36048	0.779000	0.44077	9.112000	0.94314	1.964000	0.57103	0.313000	0.20887	TCC	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442369.1		-	ENST00000306749.2	Missense_Mutation	SNP	17 : 80042511 - 80042511 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	69	10
C15orf39	56905	broad.mit.edu	37	15	75500244	75500244	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75500244A>G	ENST00000360639.2	+	2	2175	c.1855A>G	c.(1855-1857)Aaa>Gaa	p.K619E	C15orf39_ENST00000567617.1_Missense_Mutation_p.K619E|C15orf39_ENST00000394987.4_Missense_Mutation_p.K619E			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	619										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GCCAGGCCTGAAAAAGATAGA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	46	49			NA	NA	15		NA											NA				75500244		2197	4295	6492	SO:0001583	missense			AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173	56905	56905			24497	protein-coding gene	gene with protein product			chromosome 15 open reading frame 38~Name Same As HGNC:28782		NA		Standard	NM_015492	NM_015492	NA	Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.1855A>G	15.37:g.75500244A>G	ENSP00000353854:p.Lys619Glu	NA	B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	37	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.966688	0.53507	.	.	ENSG00000167173	ENST00000360639;ENST00000394987;ENST00000446981	T;T	0.81078	-1.45;-1.45	4.89	1.0	0.19881	.	0.441548	0.22792	N	0.055595	T	0.59004	0.2162	N	0.21448	0.665	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.09377	0.003;0.004	T	0.33828	-0.9853	10	0.09590	T	0.72	-0.4539	3.9376	0.09313	0.3225:0.3998:0.2777:0.0	.	181;619	Q2VPA3;Q6ZRI6	.;CO039_HUMAN	E	619;619;17	ENSP00000353854:K619E;ENSP00000378438:K619E	ENSP00000353854:K619E	K	+	1	0	C15orf39	73287297	0.030000	0.19436	0.020000	0.16555	0.782000	0.44232	1.660000	0.37397	0.193000	0.20303	0.533000	0.62120	AAA	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286410.1		+	ENST00000360639.2	Missense_Mutation	SNP	15 : 75500244 - 75500244 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	258	50
ACACB	32	broad.mit.edu	37	12	109697952	109697952	+	Nonstop_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109697952A>G	ENST00000338432.7	+	48	6615				ACACB_ENST00000377854.5_Intron|ACACB_ENST00000377848.3_Intron|ACACB_ENST00000543201.1_Nonstop_Mutation_p.*859W			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	NA					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GATCAGTGTGACTGTTAGTGA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													384	340	353			NA	NA	12		NA											NA				109697952		876	1991	2867	SO:0001627	intron_variant			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	32	32	6.4.1.2		85	protein-coding gene	gene with protein product	acetyl-CoA carboxylase 2	601557	acetyl-Coenzyme A carboxylase beta		NA	8670171	Standard	NM_001093	NM_001093	NA	Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.6497-333A>G	12.37:g.109697952A>G		NA	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.638936	0.00799	.	.	ENSG00000076555	ENST00000543201	.	.	.	3.17	-4.36	0.03645	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8571	0.52444	0.2099:0.0:0.7901:0.0	.	.	.	.	W	859	.	.	X	+	3	0	ACACB	108182335	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.046000	0.11983	-0.927000	0.03766	-0.326000	0.08463	TGA	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403077.1		+	ENST00000338432.7	Intron	SNP	12 : 109697952 - 109697952 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	824	285
TRPM1	4308	broad.mit.edu	37	15	31323236	31323236	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31323236T>C	ENST00000397795.2	-	22	3124	c.3011A>G	c.(3010-3012)tAc>tGc	p.Y1004C	TRPM1_ENST00000542188.1_Missense_Mutation_p.Y1043C|RP11-348B17.1_ENST00000558755.1_RNA|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Missense_Mutation_p.Y1026C	NM_002420.5	NP_002411.3	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1004					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GTAGGGCATGTAGAAGATGTT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	152	151			NA	NA	15		NA											NA				31323236		2161	4289	6450	SO:0001583	missense			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160	4308	4308		Voltage-gated ion channels / Transient receptor potential cation channels	7146	protein-coding gene	gene with protein product		603576	melastatin 1	MLSN1	NA	9806836, 9537257, 16382100	Standard	NM_002420	NM_001252020	NA	Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000397795.2:c.3011A>G	15.37:g.31323236T>C	ENSP00000380897:p.Tyr1004Cys	NA	O75560|Q7Z4N1|Q7Z4N3|Q7Z4N4|Q7Z4N5	37	CCDS10024.2	.	.	.	.	.	.	.	.	.	.	T	23.7	4.448492	0.84101	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	D;D;D	0.98455	-4.94;-4.94;-4.94	6.05	6.05	0.98169	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98899	0.9627	M	0.81497	2.545	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.77004	0.987;0.989	D	0.99846	1.1066	10	0.87932	D	0	-26.5266	16.5932	0.84781	0.0:0.0:0.0:1.0	.	998;1004	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	C	1004;1043;1026;1004	ENSP00000380897:Y1004C;ENSP00000437849:Y1043C;ENSP00000256552:Y1026C	ENSP00000256552:Y1026C	Y	-	2	0	TRPM1	29110528	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.976000	0.63785	2.320000	0.78422	0.528000	0.53228	TAC	TRPM1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251378.1		-	ENST00000397795.2	Missense_Mutation	SNP	15 : 31323236 - 31323236 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	601	121
MCM3AP	8888	broad.mit.edu	37	21	47686901	47686901	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47686901G>A	ENST00000397708.1	-	11	3038	c.2784C>T	c.(2782-2784)tcC>tcT	p.S928S	MCM3AP_ENST00000291688.1_Silent_p.S928S			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	928					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTTACCCGTCGGAAACGGTGA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	54	59			NA	NA	21		NA											NA				47686901		2203	4300	6503	SO:0001819	synonymous_variant			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294	8888	8888			6946	protein-coding gene	gene with protein product	germinal-centre associated nuclear protein	603294	minichromosome maintenance deficient (S. cerevisiae) 3-associated protein, MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein		NA	9712829, 16914116, 21195085	Standard	NM_003906	XM_005261205	NA	Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.2784C>T	21.37:g.47686901G>A		NA	Q2M3C1|Q9UMT4	37	CCDS13734.1																																																																																			MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207254.1		-	ENST00000397708.1	Silent	SNP	21 : 47686901 - 47686901 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	182	37
VMO1	284013	broad.mit.edu	37	17	4689283	4689283	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4689283G>A	ENST00000328739.5	-	2	339	c.260C>T	c.(259-261)gCg>gTg	p.A87V	VMO1_ENST00000354194.4_Intron|VMO1_ENST00000441199.2_Missense_Mutation_p.A87V|VMO1_ENST00000416307.2_Missense_Mutation_p.A87V	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)	87					vitelline membrane formation	extracellular region				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						GTTCCCGCGCGCGCAGTGCAG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA,VAL/ALA,,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	691	626	648		260,260,,260	3.6	0	17		648	0,8600		0,0,4300	no	missense,missense,intron,missense	VMO1	NM_001144939.1,NM_001144940.1,NM_001144941.1,NM_182566.2	64,64,,64	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	benign,benign,,benign	87/115,87/103,,87/203	4689283	1,13005	2203	4300	6503	SO:0001583	missense			AF521892	CCDS11055.1, CCDS45585.1, CCDS45586.1, CCDS45587.1	17p13.2	2013-03-07	2005-11-14				284013	284013			30387	protein-coding gene	gene with protein product					NA	22025569	Standard	NM_182566	NM_182566	NA	Approved		uc002fyx.3	Q7Z5L0		ENST00000328739.5:c.260C>T	17.37:g.4689283G>A	ENSP00000328397:p.Ala87Val	NA	Q3SXP1	37	CCDS11055.1	.	.	.	.	.	.	.	.	.	.	G	9.086	1.000625	0.19121	2.27E-4	0.0	ENSG00000182853	ENST00000328739;ENST00000416307;ENST00000441199	T;T;T	0.44482	0.92;0.92;0.92	4.58	3.61	0.41365	.	0.887861	0.09976	N	0.731644	T	0.28896	0.0717	L	0.29908	0.895	0.42351	D	0.992372	P;B;B	0.35807	0.522;0.019;0.142	B;B;B	0.30572	0.117;0.008;0.015	T	0.04029	-1.0983	10	0.34782	T	0.22	-5.9681	8.7249	0.34463	0.1042:0.0:0.8958:0.0	.	87;87;87	C9JQ15;E9PAU9;Q7Z5L0	.;.;VMO1_HUMAN	V	87	ENSP00000328397:A87V;ENSP00000390450:A87V;ENSP00000408166:A87V	ENSP00000328397:A87V	A	-	2	0	VMO1	4636023	0.001000	0.12720	0.010000	0.14722	0.009000	0.06853	0.885000	0.28227	1.161000	0.42604	-0.219000	0.12488	GCG	VMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000439587.1		-	ENST00000328739.5	Missense_Mutation	SNP	17 : 4689283 - 4689283 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	36
MCM3AP	8888	broad.mit.edu	37	21	47685237	47685237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47685237C>T	ENST00000397708.1	-	13	3486	c.3232G>A	c.(3232-3234)Gag>Aag	p.E1078K	MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1078K			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1078					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	p.E1078K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GTCCCTACCTCGTCAGAGTAC	0.607		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)											48	43	44			NA	NA	21		NA											NA				47685237		2203	4300	6503	SO:0001583	missense			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294	8888	8888			6946	protein-coding gene	gene with protein product	germinal-centre associated nuclear protein	603294	minichromosome maintenance deficient (S. cerevisiae) 3-associated protein, MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein		NA	9712829, 16914116, 21195085	Standard	NM_003906	XM_005261205	NA	Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.3232G>A	21.37:g.47685237C>T	ENSP00000380820:p.Glu1078Lys	NA	Q2M3C1|Q9UMT4	37	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	C	1.363	-0.588107	0.03799	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.03745	3.82;3.82	5.29	-3.19	0.05171	.	1.031090	0.07574	N	0.919099	T	0.01765	0.0056	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.48139	-0.9061	10	0.07030	T	0.85	-0.0616	4.9528	0.14023	0.2381:0.2867:0.0:0.4752	.	1078	O60318	MCM3A_HUMAN	K	1078	ENSP00000380820:E1078K;ENSP00000291688:E1078K	ENSP00000291688:E1078K	E	-	1	0	MCM3AP	46509665	0.000000	0.05858	0.000000	0.03702	0.196000	0.23810	-0.207000	0.09384	-0.454000	0.07066	0.655000	0.94253	GAG	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207254.1		-	ENST00000397708.1	Missense_Mutation	SNP	21 : 47685237 - 47685237 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	223	46
GIMAP8	155038	broad.mit.edu	37	7	150174701	150174701	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150174701G>A	ENST00000307271.3	+	5	2405	c.1831G>A	c.(1831-1833)Gaa>Aaa	p.E611K		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	611						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CCAGGCCCAGGAAACCCAGGT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	89	84			NA	NA	7		NA											NA				150174701		2202	4300	6502	SO:0001583	missense			AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115	155038	155038		GTPases, IMAP	21792	protein-coding gene	gene with protein product	immune-associated nucleotide-binding protein 9				NA	15474311	Standard	NM_175571	XM_005249951	NA	Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1831G>A	7.37:g.150174701G>A	ENSP00000305107:p.Glu611Lys	NA		37	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904574	0.72868	.	.	ENSG00000171115	ENST00000307271	T	0.05996	3.36	4.44	3.51	0.40186	AIG1 (1);	0.000000	0.44097	D	0.000486	T	0.15435	0.0372	L	0.47016	1.485	0.09310	N	1	D	0.76494	0.999	D	0.68483	0.958	T	0.00888	-1.1526	10	0.72032	D	0.01	.	10.3555	0.43960	0.0:0.1985:0.8015:0.0	.	611	Q8ND71	GIMA8_HUMAN	K	611	ENSP00000305107:E611K	ENSP00000305107:E611K	E	+	1	0	GIMAP8	149805634	0.002000	0.14202	0.024000	0.17045	0.006000	0.05464	0.487000	0.22356	2.321000	0.78463	0.655000	0.94253	GAA	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350701.1		+	ENST00000307271.3	Missense_Mutation	SNP	7 : 150174701 - 150174701 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	676	114
ZNF616	90317	broad.mit.edu	37	19	52619913	52619913	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52619913C>A	ENST00000600228.1	-	4	765	c.504G>T	c.(502-504)aaG>aaT	p.K168N	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TATTACCTGTCTTCTCCGTTT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	150	154			NA	NA	19		NA											NA				52619913		2203	4300	6503	SO:0001583	missense			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611	90317	90317		Zinc fingers, C2H2-type, -	28062	protein-coding gene	gene with protein product					NA		Standard	XM_030892	NM_178523	NA	Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.504G>T	19.37:g.52619913C>A	ENSP00000471000:p.Lys168Asn	NA	B3KRV1|Q0P658|Q658V7	37	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	C	6.274	0.418606	0.11870	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.64	0.48	0.16804	.	.	.	.	.	T	0.46054	0.1373	M	0.82823	2.61	0.09310	N	1	P	0.41450	0.75	B	0.43360	0.417	T	0.40136	-0.9579	8	0.56958	D	0.05	.	4.9941	0.14230	0.0:0.6544:0.0:0.3456	.	168	Q08AN1	ZN616_HUMAN	N	168	.	ENSP00000328722:K168N	K	-	3	2	ZNF616	57311725	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.389000	0.02530	0.029000	0.15352	0.305000	0.20034	AAG	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462451.1		-	ENST00000600228.1	Missense_Mutation	SNP	19 : 52619913 - 52619913 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	672	56
ATP10D	57205	broad.mit.edu	37	4	47563037	47563037	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47563037G>A	ENST00000273859.3	+	14	2882	c.2613G>A	c.(2611-2613)agG>agA	p.R871R		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	871					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTGACAACAGGGAAGAATTAC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	163	168			NA	NA	4		NA											NA				47563037		2203	4300	6503	SO:0001819	synonymous_variant			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246	57205	57205		ATPases / P-type	13549	protein-coding gene	gene with protein product			ATPase, Class V, type 10D		NA	12532265	Standard	NM_020453	NM_020453	NA	Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.2613G>A	4.37:g.47563037G>A		NA	A2RRC8|D6REN2|Q8NC70|Q96SR3	37	CCDS3476.1																																																																																			ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216900.1		+	ENST00000273859.3	Silent	SNP	4 : 47563037 - 47563037 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	529	115
SMG6	23293	broad.mit.edu	37	17	2202763	2202763	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2202763C>T	ENST00000263073.6	-	2	1334	c.1284G>A	c.(1282-1284)gcG>gcA	p.A428A	SMG6_ENST00000544865.1_Silent_p.A397A	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	NA	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTCCCAAAGGCGCGGACTCTG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(59;28 1088 11621 25887 46638 50814)							NA				0													81	91	87			NA	NA	17		NA											NA				2202763		2203	4300	6503	SO:0001819	synonymous_variant			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366	23293	23293			17809	protein-coding gene	gene with protein product	EST1 telomerase component homolog A (S. cerevisiae)	610963	chromosome 17 open reading frame 31, smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)	C17orf31	NA	12676087, 12699629	Standard		NM_017575	NA	Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.1284G>A	17.37:g.2202763C>T		NA	O94837|Q86VH6|Q9UF60	37	CCDS11016.1																																																																																			SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437826.3		-	ENST00000263073.6	Silent	SNP	17 : 2202763 - 2202763 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	731	118
FCRL3	115352	broad.mit.edu	37	1	157660291	157660291	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157660291C>T	ENST00000368184.3	-	9	1735	c.1444G>A	c.(1444-1446)Gct>Act	p.A482T	FCRL3_ENST00000368186.5_Missense_Mutation_p.A482T|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	482	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GCCCCGGGAGCCCTGAGGGTG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	43	42			NA	NA	1		NA											NA				157660291		2203	4300	6503	SO:0001583	missense			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856	115352	115352		CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	18506	protein-coding gene	gene with protein product		606510			NA	11493702, 12014205	Standard	NM_052939	XR_241065	NA	Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1444G>A	1.37:g.157660291C>T	ENSP00000357167:p.Ala482Thr	NA	A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	37	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	.	4.823	0.153079	0.09185	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.03301	3.98;3.98	4.21	-1.39	0.08997	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.517600	0.04711	N	0.417545	T	0.01558	0.0050	L	0.44542	1.39	0.09310	N	1	B;B;B	0.30526	0.283;0.225;0.24	B;B;B	0.40329	0.326;0.18;0.219	T	0.48293	-0.9048	10	0.35671	T	0.21	.	2.5846	0.04827	0.1317:0.5025:0.1644:0.2014	.	482;387;482	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	T	482	ENSP00000357169:A482T;ENSP00000357167:A482T	ENSP00000292392:A482T	A	-	1	0	FCRL3	155926915	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.003000	0.13083	-0.174000	0.10743	0.655000	0.94253	GCT	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051419.2		-	ENST00000368184.3	Missense_Mutation	SNP	1 : 157660291 - 157660291 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	412	124
NUP155	9631	broad.mit.edu	37	5	37331826	37331826	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37331826T>C	ENST00000231498.3	-	14	1793	c.1590A>G	c.(1588-1590)ggA>ggG	p.G530G	NUP155_ENST00000381843.2_Silent_p.G471G|NUP155_ENST00000513532.1_Silent_p.G530G	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	530					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTCTCCATCTCCTCCCACAT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	91	92			NA	NA	5		NA											NA				37331826		2203	4300	6503	SO:0001819	synonymous_variant			AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569	9631	9631			8063	protein-coding gene	gene with protein product		606694	nucleoporin 155kD		NA	10191094	Standard	NM_153485, NM_004298	NM_153485	NA	Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.1590A>G	5.37:g.37331826T>C		NA	Q9UBE9|Q9UFL5	37	CCDS3921.1																																																																																			NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207593.2		-	ENST00000231498.3	Silent	SNP	5 : 37331826 - 37331826 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	468	95
STARD4	134429	broad.mit.edu	37	5	110835647	110835647	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:110835647C>T	ENST00000296632.3	-	6	689	c.555G>A	c.(553-555)gcG>gcA	p.A185A	STARD4_ENST00000512160.1_3'UTR	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	185	START.				lipid transport		lipid binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		CTGTATCTACCGCAGACTGAG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	161	164			NA	NA	5		NA											NA				110835647		2202	4300	6502	SO:0001819	synonymous_variant			AF480299	CCDS4104.1	5q22	2011-09-12	2007-08-16		ENSG00000164211	ENSG00000164211	134429	134429		StAR-related lipid transfer (START) domain containing	18058	protein-coding gene	gene with protein product		607049	START domain containing 4, sterol regulated		NA	12011452	Standard	NM_139164	NM_139164	NA	Approved		uc003kph.1	Q96DR4	OTTHUMG00000128793	ENST00000296632.3:c.555G>A	5.37:g.110835647C>T		NA		37	CCDS4104.1																																																																																			STARD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250720.1		-	ENST00000296632.3	Silent	SNP	5 : 110835647 - 110835647 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	599	115
CLSTN2	64084	broad.mit.edu	37	3	140277580	140277580	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:140277580A>C	ENST00000458420.3	+	12	2112	c.1922A>C	c.(1921-1923)gAc>gCc	p.D641A		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	641					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CGGGGCACAGACCACTTCTGG	0.572		NA								HNSCC(16;0.037)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(45;858 913 3709 36904 37282)							NA				0													71	70	70			NA	NA	3		NA											NA				140277580		2203	4300	6503	SO:0001583	missense			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258	64084	64084		Cadherins / Cadherin-related	17448	protein-coding gene	gene with protein product	cadherin-related family member 13	611323			NA	12498782	Standard	NM_022131	NM_022131	NA	Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1922A>C	3.37:g.140277580A>C	ENSP00000402460:p.Asp641Ala	NA	B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	37	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	A	8.256	0.810116	0.16537	.	.	ENSG00000158258	ENST00000458420	T	0.28895	1.59	5.27	5.27	0.74061	.	0.374526	0.32301	N	0.006290	T	0.25568	0.0622	L	0.41710	1.295	0.35741	D	0.818657	P	0.49090	0.919	B	0.40256	0.324	T	0.32025	-0.9922	9	.	.	.	-22.7113	13.1571	0.59524	1.0:0.0:0.0:0.0	.	641	Q9H4D0	CSTN2_HUMAN	A	641	ENSP00000402460:D641A	.	D	+	2	0	CLSTN2	141760270	1.000000	0.71417	0.104000	0.21259	0.750000	0.42670	9.339000	0.96797	1.990000	0.58119	0.528000	0.53228	GAC	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359393.3		+	ENST00000458420.3	Missense_Mutation	SNP	3 : 140277580 - 140277580 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	411	71
EFCAB7	84455	broad.mit.edu	37	1	64027454	64027454	+	Nonsense_Mutation	SNP	C	C	T	rs144850202	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:64027454C>T	ENST00000371088.4	+	11	1669	c.1423C>T	c.(1423-1425)Cga>Tga	p.R475*	EFCAB7_ENST00000461039.1_3'UTR	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	475							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						AGCTAATGATCGAGAAGGAGA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	83	81			NA	NA	1		NA											NA				64027454		2203	4300	6503	SO:0001587	stop_gained			BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965	84455	84455		EF-hand domain containing	29379	protein-coding gene	gene with protein product					NA	11347906	Standard	NM_032437	NM_032437	NA	Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.1423C>T	1.37:g.64027454C>T	ENSP00000360129:p.Arg475*	NA	Q658P0|Q96B95|Q96JM6	37	CCDS30737.1	.	.	.	.	.	.	.	.	.	.	C	37	6.480789	0.97603	.	.	ENSG00000203965	ENST00000371088	.	.	.	5.76	2.79	0.32731	.	0.256083	0.37669	N	0.002000	.	.	.	.	.	.	0.37285	D	0.907992	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.6178	11.8871	0.52608	0.2475:0.6335:0.119:0.0	.	.	.	.	X	475	.	ENSP00000360129:R475X	R	+	1	2	EFCAB7	63800042	1.000000	0.71417	0.448000	0.26945	0.491000	0.33493	2.120000	0.41968	0.319000	0.23209	-0.347000	0.07816	CGA	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000024910.1		+	ENST00000371088.4	Nonsense_Mutation	SNP	1 : 64027454 - 64027454 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	280	26
NLRP7	199713	broad.mit.edu	37	19	55451411	55451411	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55451411T>C	ENST00000588756.1	-	6	1262	c.776A>G	c.(775-777)aAa>aGa	p.K259R	NLRP7_ENST00000340844.2_Missense_Mutation_p.K259R|NLRP7_ENST00000448121.2_Missense_Mutation_p.K259R|NLRP7_ENST00000592784.1_Missense_Mutation_p.K259R|NLRP7_ENST00000446217.1_Missense_Mutation_p.K287R|NLRP7_ENST00000590030.1_Missense_Mutation_p.K259R|NLRP7_ENST00000328092.5_Missense_Mutation_p.K259R			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	259	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGGTGGGACTTTCAGCTCATC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	89	88			NA	NA	19		NA											NA				55451411		2203	4300	6503	SO:0001583	missense			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634	199713	199713		Nucleotide-binding domain and leucine rich repeat containing	22947	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7	609661	NACHT, leucine rich repeat and PYD containing 7	NALP7	NA	12563287, 12019269	Standard	NM_139176	NM_139176	NA	Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000588756.1:c.776A>G	19.37:g.55451411T>C	ENSP00000467123:p.Lys259Arg	NA	E9PE16|Q32MH8|Q7RTR1	37	CCDS46183.1	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.611732	0.00835	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	1.76	-2.71	0.05986	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.44095	0.1277	N	0.01250	-0.93	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.14023	0.007;0.01;0.01;0.004	T	0.35992	-0.9766	9	0.15066	T	0.55	.	7.2761	0.26286	0.0:0.3325:0.0:0.6675	.	287;259;259;259	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	R	259;259;259;287	ENSP00000329568:K259R;ENSP00000409137:K259R;ENSP00000339491:K259R;ENSP00000414273:K287R	ENSP00000329568:K259R	K	-	2	0	NLRP7	60143223	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	0.213000	0.17521	-0.742000	0.04790	-0.609000	0.04063	AAA	NLRP7-001	KNOWN	alternative_5_UTR|downstream_ATG|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451324.2		-	ENST00000588756.1	Missense_Mutation	SNP	19 : 55451411 - 55451411 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	709	130
HIP1	3092	broad.mit.edu	37	7	75187529	75187529	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75187529C>A	ENST00000434438.2	-	15	1426	c.1406G>T	c.(1405-1407)aGc>aTc	p.S469I	HIP1_ENST00000336926.6_Missense_Mutation_p.S469I	NM_001243198.1	NP_001230127.1	O00291	HIP1_HUMAN	huntingtin interacting protein 1	469	pDED.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTTTAGCTTGCTATATCGCTG	0.542		NA	T	PDGFRB	CMML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	0													233	185	201			NA	NA	7		NA											NA				75187529		2203	4300	6503	SO:0001583	missense			AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946	3092	3092			4913	protein-coding gene	gene with protein product		601767			NA	9140394, 9147654	Standard	NM_005338	NM_005338	NA	Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000434438.2:c.1406G>T	7.37:g.75187529C>A	ENSP00000410300:p.Ser469Ile	NA	O00328|Q2TB58|Q8TDL4	37	CCDS59060.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.626792	0.46840	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.14640	2.7;2.49	5.18	4.24	0.50183	.	0.192946	0.56097	D	0.000033	T	0.13500	0.0327	L	0.54323	1.7	0.40654	D	0.982062	P;P	0.45531	0.86;0.767	B;B	0.36845	0.234;0.168	T	0.04855	-1.0922	10	0.52906	T	0.07	-21.3599	13.0976	0.59202	0.0:0.7076:0.2924:0.0	.	469;469	E7ES17;O00291	.;HIP1_HUMAN	I	469	ENSP00000336747:S469I;ENSP00000410300:S469I	ENSP00000336747:S469I	S	-	2	0	HIP1	75025465	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.944000	0.40263	2.417000	0.82017	0.591000	0.81541	AGC	HIP1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342864.2		-	ENST00000434438.2	Missense_Mutation	SNP	7 : 75187529 - 75187529 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	500	89
NEIL3	55247	broad.mit.edu	37	4	178260982	178260982	+	Missense_Mutation	SNP	A	A	G	rs147943632		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:178260982A>G	ENST00000264596.3	+	5	791	c.673A>G	c.(673-675)Ata>Gta	p.I225V		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	225					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CATGAAAATGATACGTGATTT	0.358		NA						Base excision repair (BER), DNA glycosylases						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								A	VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	93	88	90		673	3	0.8	4	dbSNP_134	90	0,8600		0,0,4300	no	missense	NEIL3	NM_018248.2	29	0,1,6502	GG,GA,AA	NA	0.0,0.0227,0.0077	possibly-damaging	225/606	178260982	1,13005	2203	4300	6503	SO:0001583	missense			AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674	55247	55247			24573	protein-coding gene	gene with protein product	zinc finger, GRF-type containing 3	608934			NA	12713815, 12509226	Standard	NM_018248	NM_018248	NA	Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.673A>G	4.37:g.178260982A>G	ENSP00000264596:p.Ile225Val	NA	Q2PPJ3|Q8NG51|Q9NV95	37	CCDS3828.1	.	.	.	.	.	.	.	.	.	.	A	10.16	1.273946	0.23221	2.27E-4	0.0	ENSG00000109674	ENST00000264596	T	0.21191	2.02	5.49	3.01	0.34805	DNA glycosylase/AP lyase, H2TH DNA-binding (1);Ribosomal protein S13-like, H2TH (1);	0.561376	0.19738	N	0.107190	T	0.15132	0.0365	L	0.42632	1.34	0.28203	N	0.92729	B	0.11235	0.004	B	0.14023	0.01	T	0.35251	-0.9796	10	0.07325	T	0.83	-0.6797	9.803	0.40775	0.8597:0.0:0.1403:0.0	.	225	Q8TAT5	NEIL3_HUMAN	V	225	ENSP00000264596:I225V	ENSP00000264596:I225V	I	+	1	0	NEIL3	178497976	0.993000	0.37304	0.790000	0.31976	0.987000	0.75469	2.884000	0.48562	0.359000	0.24239	0.455000	0.32223	ATA	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361914.1		+	ENST00000264596.3	Missense_Mutation	SNP	4 : 178260982 - 178260982 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	189	52
RALGAPA2	57186	broad.mit.edu	37	20	20517328	20517328	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20517328T>G	ENST00000202677.7	-	25	3393	c.3386A>C	c.(3385-3387)gAg>gCg	p.E1129A		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	NA					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TGTAATGGCCTCATTTACTTC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	75	74			NA	NA	20		NA											NA				20517328		1910	4129	6039	SO:0001583	missense			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559	57186	57186			16207	protein-coding gene	gene with protein product			chromosome 20 open reading frame 74	C20orf74	NA	16490346, 19520869	Standard	NM_020343	NM_020343	NA	Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.3386A>C	20.37:g.20517328T>G	ENSP00000202677:p.Glu1129Ala	NA	Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	37	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	T	7.815	0.716597	0.15306	.	.	ENSG00000188559	ENST00000202677	D	0.94862	-3.54	5.63	3.17	0.36434	.	0.167881	0.52532	D	0.000075	D	0.86690	0.5993	N	0.25485	0.75	0.36334	D	0.85907	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.80204	-0.1479	10	0.08837	T	0.75	.	8.4392	0.32805	0.0:0.0699:0.1307:0.7994	.	967;1129	A8MSM5;Q2PPJ7	.;RGPA2_HUMAN	A	1129	ENSP00000202677:E1129A	ENSP00000202677:E1129A	E	-	2	0	RALGAPA2	20465328	0.989000	0.36119	0.128000	0.21923	0.055000	0.15305	2.923000	0.48868	2.150000	0.67090	0.455000	0.32223	GAG	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000471941.1		-	ENST00000202677.7	Missense_Mutation	SNP	20 : 20517328 - 20517328 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	168	35
NALCN	259232	broad.mit.edu	37	13	101777028	101777028	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101777028C>T	ENST00000251127.6	-	18	2204	c.2123G>A	c.(2122-2124)cGc>cAc	p.R708H		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	708						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AACAGACTTGCGAAGCTGAAA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	117	119			NA	NA	13		NA											NA				101777028		2203	4300	6503	SO:0001583	missense			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452	259232	259232		Ion channels / Sodium leak channels, non-selective	19082	protein-coding gene	gene with protein product		611549	voltage gated channel like 1	VGCNL1	NA	17448995	Standard	NM_052867	XM_006719943	NA	Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2123G>A	13.37:g.101777028C>T	ENSP00000251127:p.Arg708His	NA	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087110	0.55861	.	.	ENSG00000102452	ENST00000251127	D	0.97688	-4.49	6.07	6.07	0.98685	.	0.048229	0.85682	D	0.000000	D	0.93864	0.8037	N	0.14661	0.345	0.80722	D	1	P	0.38420	0.63	B	0.37047	0.24	D	0.92981	0.6406	10	0.24483	T	0.36	.	17.5761	0.87949	0.0:1.0:0.0:0.0	.	708	Q8IZF0	NALCN_HUMAN	H	708	ENSP00000251127:R708H	ENSP00000251127:R708H	R	-	2	0	NALCN	100575029	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.703000	0.68340	2.885000	0.99019	0.655000	0.94253	CGC	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045663.2		-	ENST00000251127.6	Missense_Mutation	SNP	13 : 101777028 - 101777028 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	603	101
OR2T11	127077	broad.mit.edu	37	1	248790026	248790026	+	Missense_Mutation	SNP	C	C	T	rs150548690		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248790026C>T	ENST00000330803.2	-	1	465	c.404G>A	c.(403-405)cGc>cAc	p.R135H		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACACTTCTTGCGGTTCATCAG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG	0,4104		0,0,2052	47	55	52		404	-5.7	0	1	dbSNP_134	52	1,8463		0,1,4231	no	missense	OR2T11	NM_001001964.1	29	0,1,6283	TT,TC,CC	NA	0.0118,0.0,0.0080	benign	135/317	248790026	1,12567	2052	4232	6284	SO:0001583	missense			BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130	127077	127077		GPCR / Class A : Olfactory receptors	19574	protein-coding gene	gene with protein product			olfactory receptor, family 2, subfamily T, member 11		NA		Standard	NM_001001964	NM_001001964	NA	Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.404G>A	1.37:g.248790026C>T	ENSP00000328934:p.Arg135His	NA	Q6IEY6	37	CCDS31122.1	.	.	.	.	.	.	.	.	.	.	.	0.007	-2.015331	0.00422	0.0	1.18E-4	ENSG00000183130	ENST00000330803	T	0.25250	1.81	4.38	-5.68	0.02436	GPCR, rhodopsin-like superfamily (1);	0.947310	0.08686	N	0.908658	T	0.08447	0.0210	N	0.10837	0.055	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.35151	-0.9800	10	0.10902	T	0.67	.	2.4794	0.04583	0.2046:0.2037:0.1007:0.491	.	135	Q8NH01	O2T11_HUMAN	H	135	ENSP00000328934:R135H	ENSP00000328934:R135H	R	-	2	0	OR2T11	246856649	0.000000	0.05858	0.012000	0.15200	0.082000	0.17680	-0.485000	0.06520	-1.147000	0.02851	-0.877000	0.02976	CGC	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097134.1		-	ENST00000330803.2	Missense_Mutation	SNP	1 : 248790026 - 248790026 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	461	84
SKP1	6500	broad.mit.edu	37	5	133496781	133496781	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133496781G>A	ENST00000353411.6	-	4	395	c.212C>T	c.(211-213)cCt>cTt	p.P71L	SKP1_ENST00000521216.1_Missense_Mutation_p.P71L|SKP1_ENST00000522855.1_Missense_Mutation_p.P71L|SKP1_ENST00000522552.1_Missense_Mutation_p.P71L|SKP1_ENST00000517625.1_Missense_Mutation_p.P71L	NM_170679.2	NP_733779.1	P63208	SKP1_HUMAN	S-phase kinase-associated protein 1	71					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|G1/S transition of mitotic cell cycle|histone H2A monoubiquitination|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATCTTCAGGAGGAGGAGGGTC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	85	90			NA	NA	5		NA											NA				133496781		2203	4300	6503	SO:0001583	missense			U33760	CCDS4171.1, CCDS4172.1	5q31	2011-11-18	2007-11-13	2007-11-13	ENSG00000113558	ENSG00000113558	6500	6500			10899	protein-coding gene	gene with protein product		601434	S-phase kinase-associated protein 1A (p19A)	SKP1A	NA	7553852, 8646875	Standard	NM_170679	NM_006930	NA	Approved	EMC19, OCP2, TCEB1L, MGC34403, OCP-II, p19A	uc003kzc.4	P63208	OTTHUMG00000129117	ENST00000353411.6:c.212C>T	5.37:g.133496781G>A	ENSP00000231487:p.Pro71Leu	NA	D3DQ97|D3DQ98|P34991|Q8TAY2	37	CCDS4171.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297649	0.60086	.	.	ENSG00000113558	ENST00000353411;ENST00000522552;ENST00000521216;ENST00000517625;ENST00000522855;ENST00000328392;ENST00000519321;ENST00000520417	T;T;T;T;T;T;T;T	0.47177	0.88;0.87;0.87;0.88;0.88;0.87;0.88;0.85	4.97	4.97	0.65823	BTB/POZ fold (2);	0.000000	0.85682	U	0.000000	T	0.50735	0.1633	M	0.67569	2.06	0.80722	D	1	B;B;B	0.22414	0.009;0.069;0.008	B;B;B	0.22386	0.013;0.039;0.008	T	0.52109	-0.8619	10	0.52906	T	0.07	-1.6096	18.6017	0.91249	0.0:0.0:1.0:0.0	.	71;71;71	E5RJR5;P63208-2;P63208	.;.;SKP1_HUMAN	L	71	ENSP00000231487:P71L;ENSP00000429472:P71L;ENSP00000431067:P71L;ENSP00000429961:P71L;ENSP00000429686:P71L;ENSP00000331708:P71L;ENSP00000429415:P71L;ENSP00000429996:P71L	ENSP00000331708:P71L	P	-	2	0	SKP1	133524680	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.130000	0.94437	2.444000	0.82710	0.655000	0.94253	CCT	SKP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251162.2		-	ENST00000353411.6	Missense_Mutation	SNP	5 : 133496781 - 133496781 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	203	36
LRRC49	54839	broad.mit.edu	37	15	71188217	71188217	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:71188217G>A	ENST00000560691.1	+	0	192				LRRC49_ENST00000544974.2_Silent_p.S35S|LRRC49_ENST00000560369.1_Silent_p.S50S|LRRC49_ENST00000260382.5_Silent_p.S45S|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000443425.2_5'UTR			Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	NA						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AAGACACATCGTCATTCCCCG	0.323		NA											G	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	EXOME	NA	NA	5e-04	SNP								NA				0													90	86	88			NA	NA	15		NA											NA				71188217		2199	4297	6496	SO:0001623	5_prime_UTR_variant				CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821	54839	54839			25965	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_017691	NM_001199017	NA	Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000560691.1:c.-1139G>A	15.37:g.71188217G>A		NA	Q9NXM6	37																																																																																				LRRC49-008	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000417216.1		+	ENST00000560691.1	5'UTR	SNP	15 : 71188217 - 71188217 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	242	61
ZNF304	57343	broad.mit.edu	37	19	57868238	57868238	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57868238C>T	ENST00000282286.5	+	3	1174	c.1001C>T	c.(1000-1002)tCt>tTt	p.S334F	ZNF304_ENST00000443917.2_Missense_Mutation_p.S381F|ZNF304_ENST00000391705.3_Missense_Mutation_p.S334F|ZNF304_ENST00000598744.1_Missense_Mutation_p.S292F			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	334				S -> P (in Ref. 1; CAC06610).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GGAGAAAGATCTTATGACTGC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	64	66			NA	NA	19		NA											NA				57868238		2203	4300	6503	SO:0001583	missense			AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845	57343	57343		Zinc fingers, C2H2-type, -	13505	protein-coding gene	gene with protein product		613840			NA		Standard		XM_005259090	NA	Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.1001C>T	19.37:g.57868238C>T	ENSP00000282286:p.Ser334Phe	NA		37	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.359686	0.41801	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.15487	5.19;5.19;2.42	3.72	0.211	0.15236	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26955	0.0660	M	0.62016	1.91	0.09310	N	1	P;D	0.67145	0.94;0.996	P;P	0.57548	0.459;0.823	T	0.11203	-1.0597	9	0.87932	D	0	.	4.4656	0.11687	0.159:0.5608:0.0:0.2802	.	334;381	Q9HCX3;E7EQD3	ZN304_HUMAN;.	F	334;334;381	ENSP00000282286:S334F;ENSP00000375586:S334F;ENSP00000401642:S381F	ENSP00000282286:S334F	S	+	2	0	ZNF304	62560050	0.000000	0.05858	0.001000	0.08648	0.886000	0.51366	0.325000	0.19628	0.156000	0.19299	-0.225000	0.12378	TCT	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465785.1		+	ENST00000282286.5	Missense_Mutation	SNP	19 : 57868238 - 57868238 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	58
C20orf26	0	broad.mit.edu	37	20	20144736	20144736	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20144736T>C	ENST00000245957.5	+	11	1145	c.1069T>C	c.(1069-1071)Tat>Cat	p.Y357H	C20orf26_ENST00000377306.1_Missense_Mutation_p.Y357H|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.Y357H|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		357										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ATATGCACAGTATCACCATGT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	114	119			NA	NA	20		NA											NA				20144736		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000245957.5:c.1069T>C	20.37:g.20144736T>C	ENSP00000245957:p.Tyr357His	NA	A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	37	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	T	4.349	0.064258	0.08388	.	.	ENSG00000089101	ENST00000340348;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000451767	T;T;T	0.08458	3.09;3.09;3.09	5.36	0.968	0.19680	.	2.004040	0.02619	N	0.102998	T	0.05823	0.0152	N	0.22421	0.69	0.09310	N	0.999999	B;B;B;B	0.27932	0.007;0.194;0.0;0.0	B;B;B;B	0.19148	0.001;0.024;0.0;0.0	T	0.32798	-0.9893	10	0.44086	T	0.13	.	1.2688	0.02016	0.2649:0.1475:0.4344:0.1532	.	357;357;312;357	Q8NHU2-3;F8W6K4;F8W6E2;Q8NHU2	.;.;.;CT026_HUMAN	H	312;357;357;357;357	ENSP00000245957:Y357H;ENSP00000366521:Y357H;ENSP00000414537:Y357H	ENSP00000245957:Y357H	Y	+	1	0	C20orf26	20092736	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.136000	0.15974	0.012000	0.14892	-0.132000	0.14878	TAT	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078228.3		+	ENST00000245957.5	Missense_Mutation	SNP	20 : 20144736 - 20144736 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	430	45
RTN3	10313	broad.mit.edu	37	11	63487245	63487245	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63487245C>A	ENST00000377819.5	+	3	1425	c.1271C>A	c.(1270-1272)tCt>tAt	p.S424Y	RTN3_ENST00000540798.1_Missense_Mutation_p.S312Y|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.S405Y	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	424					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						GTACCTGACTCTTTGAATTCC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	68	68			NA	NA	11		NA											NA				63487245		2201	4298	6499	SO:0001583	missense			AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318	10313	10313			10469	protein-coding gene	gene with protein product	neuroendocrine-specific protein-like 2, NSP-like protein II, isoforme III, ASY interacting protein, homolog of ASY protein	604249			NA	10331947	Standard	NM_006054	NM_006054	NA	Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.1271C>A	11.37:g.63487245C>A	ENSP00000367050:p.Ser424Tyr	NA	B3KQS2|B7Z308|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	37	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.750587	0.00086	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.19532	2.14;2.14;2.14	5.85	-11.7	0.00046	.	3.215830	0.00741	N	0.001011	T	0.06371	0.0164	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.17653	-1.0362	10	0.02654	T	1	19.0572	9.1785	0.37127	0.4456:0.3475:0.2069:0.0	.	312;424;405	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	Y	424;405;312	ENSP00000367050:S424Y;ENSP00000344106:S405Y;ENSP00000442733:S312Y	ENSP00000344106:S405Y	S	+	2	0	RTN3	63243821	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.396000	0.02513	-2.885000	0.00317	-0.868000	0.02995	TCT	RTN3-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397846.1		+	ENST00000377819.5	Missense_Mutation	SNP	11 : 63487245 - 63487245 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	421	72
TEP1	7011	broad.mit.edu	37	14	20841685	20841685	+	Missense_Mutation	SNP	C	C	T	rs146330073		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20841685C>T	ENST00000556935.1	-	44	6377	c.6338G>A	c.(6337-6339)cGg>cAg	p.R2113Q	TEP1_ENST00000545983.1_Missense_Mutation_p.R559Q|TEP1_ENST00000262715.5_Missense_Mutation_p.R2221Q			Q99973	TEP1_HUMAN	telomerase-associated protein 1	2221					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ATGCCATAACCGTGTGGCCCC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	GLN/ARG	0,4406		0,0,2203	75	67	70		6662	3.4	1	14	dbSNP_134	70	5,8595	4.3+/-15.6	0,5,4295	yes	missense	TEP1	NM_007110.4	43	0,5,6498	TT,TC,CC	NA	0.0581,0.0,0.0384	benign	2221/2628	20841685	5,13001	2203	4300	6503	SO:0001583	missense				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566	7011	7011		WD repeat domain containing	11726	protein-coding gene	gene with protein product	TROVE domain family, member 1	601686			NA	9403057	Standard	NM_007110	NM_007110	NA	Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000556935.1:c.6338G>A	14.37:g.20841685C>T	ENSP00000452574:p.Arg2113Gln	NA	A0AUV9	37		.	.	.	.	.	.	.	.	.	.	C	13.67	2.305268	0.40795	0.0	5.81E-4	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.61510	1.89;1.89;0.1	5.25	3.41	0.39046	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.411730	0.25307	N	0.031618	T	0.35799	0.0944	N	0.19112	0.55	0.27025	N	0.964372	B;B;B;B	0.31125	0.09;0.309;0.266;0.206	B;B;B;B	0.23852	0.008;0.049;0.027;0.022	T	0.15780	-1.0425	10	0.33940	T	0.23	-14.7572	7.4458	0.27211	0.0:0.7966:0.0:0.2034	.	559;2113;1564;2221	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	Q	2221;2221;2113;559	ENSP00000262715:R2221Q;ENSP00000452574:R2113Q;ENSP00000438849:R559Q	ENSP00000262715:R2221Q	R	-	2	0	TEP1	19911525	0.415000	0.25416	0.993000	0.49108	0.927000	0.56198	0.585000	0.23879	0.593000	0.29745	0.655000	0.94253	CGG	TEP1-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000410689.1		-	ENST00000556935.1	Missense_Mutation	SNP	14 : 20841685 - 20841685 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	250	45
PFKFB2	5208	broad.mit.edu	37	1	207238421	207238421	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207238421G>T	ENST00000367080.3	+	8	672	c.548G>T	c.(547-549)aGa>aTa	p.R183I	PFKFB2_ENST00000545806.1_Missense_Mutation_p.R150I|PFKFB2_ENST00000541914.1_5'UTR|PFKFB2_ENST00000411990.2_Missense_Mutation_p.R85I|PFKFB2_ENST00000367079.2_Missense_Mutation_p.R183I	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	183	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					GAAAGGAACAGAGAGAACGTG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	107	111			NA	NA	1		NA											NA				207238421		2203	4300	6503	SO:0001583	missense				CCDS31003.1, CCDS31004.1	1q31-q32.2	2012-07-13			ENSG00000123836	ENSG00000123836	5208	5208	2.7.1.105, 3.1.3.46		8873	protein-coding gene	gene with protein product		171835			NA		Standard		XM_005273162	NA	Approved		uc001hfg.3	O60825	OTTHUMG00000036033	ENST00000367080.3:c.548G>T	1.37:g.207238421G>T	ENSP00000356047:p.Arg183Ile	NA	O60824|Q5VVQ4|Q9H3P1	37	CCDS31004.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267827	0.80469	.	.	ENSG00000123836	ENST00000411990;ENST00000367080;ENST00000367079;ENST00000545806	.	.	.	5.86	5.86	0.93980	6-phosphofructo-2-kinase (1);	0.000000	0.85682	D	0.000000	T	0.68613	0.3020	M	0.79475	2.455	0.80722	D	1	B;P;B	0.39576	0.002;0.679;0.005	B;B;B	0.40256	0.005;0.324;0.005	T	0.71899	-0.4453	9	0.56958	D	0.05	.	19.174	0.93594	0.0:0.0:1.0:0.0	.	85;183;183	B4DY91;Q5VVQ3;O60825	.;.;F262_HUMAN	I	85;183;183;150	.	ENSP00000356046:R183I	R	+	2	0	PFKFB2	205305044	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.160000	0.58164	2.777000	0.95525	0.591000	0.81541	AGA	PFKFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087838.1		+	ENST00000367080.3	Missense_Mutation	SNP	1 : 207238421 - 207238421 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	328	59
SRRM2	23524	broad.mit.edu	37	16	2815936	2815936	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2815936C>T	ENST00000301740.8	+	11	5956	c.5407C>T	c.(5407-5409)Cgg>Tgg	p.R1803W		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1803	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCGAAGACAGCGGAGCCGGTC	0.602		NA											C	1	5e-04	NA	0.0028	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9049	EXOME	NA	NA	5e-04	SNP								NA				0													39	46	44			NA	NA	16		NA											NA				2815936		2198	4300	6498	SO:0001583	missense			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978	23524	23524			16639	protein-coding gene	gene with protein product		606032			NA	10668804, 11004489	Standard		NM_016333	NA	Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.5407C>T	16.37:g.2815936C>T	ENSP00000301740:p.Arg1803Trp	NA	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	37	CCDS32373.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	9.025	0.985903	0.18889	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.39056	1.1	5.46	3.3	0.37823	.	0.000000	0.56097	D	0.000032	T	0.41419	0.1158	N	0.08118	0	0.32718	N	0.510672	D	0.89917	1.0	D	0.77557	0.99	T	0.55483	-0.8134	10	0.62326	D	0.03	-9.0486	10.9653	0.47408	0.4254:0.5746:0.0:0.0	.	1803	Q9UQ35	SRRM2_HUMAN	W	1803;1803;1055	ENSP00000301740:R1803W	ENSP00000301740:R1803W	R	+	1	2	SRRM2	2755937	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.904000	0.28491	0.479000	0.27511	0.650000	0.86243	CGG	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000436411.1		+	ENST00000301740.8	Missense_Mutation	SNP	16 : 2815936 - 2815936 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	297	52
CACNA1S	779	broad.mit.edu	37	1	201010662	201010662	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201010662G>A	ENST00000362061.3	-	41	5330	c.5104C>T	c.(5104-5106)Cga>Tga	p.R1702*	CACNA1S_ENST00000367338.3_Nonsense_Mutation_p.R1683*|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1702					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCAAGGGCTCGTCCTCTGGTA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	68	72			NA	NA	1		NA											NA				201010662		2203	4300	6503	SO:0001587	stop_gained			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248	779	779		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3	NA	7916735, 16382099	Standard	NM_000069	NM_000069	NA	Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.5104C>T	1.37:g.201010662G>A	ENSP00000355192:p.Arg1702*	NA	A4IF51|B1ALM2|Q12896|Q13934	37	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	.	46	12.097687	0.99636	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	.	.	.	4.51	3.6	0.41247	.	3.051100	0.01927	U	0.040939	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	10.8773	0.46919	0.0:0.8087:0.1913:0.0	.	.	.	.	X	1702;1683	.	ENSP00000355192:R1702X	R	-	1	2	CACNA1S	199277285	1.000000	0.71417	0.997000	0.53966	0.028000	0.11728	0.826000	0.27407	1.278000	0.44430	-0.375000	0.07067	CGA	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087049.1		-	ENST00000362061.3	Nonsense_Mutation	SNP	1 : 201010662 - 201010662 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	184	23
TRABD	80305	broad.mit.edu	37	22	50635949	50635949	+	Silent	SNP	C	C	T	rs139568052	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50635949C>T	ENST00000395829.1	+	6	650	c.603C>T	c.(601-603)atC>atT	p.I201I	TRABD_ENST00000380909.4_Silent_p.I201I|TRABD_ENST00000395827.1_Silent_p.I201I|TRABD_ENST00000303434.4_Silent_p.I201I			Q9H4I3	TRABD_HUMAN	TraB domain containing	201										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		AGAGGGCCATCGCAGCGCTCT	0.657		NA											C	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0													76	74	75			NA	NA	22		NA											NA				50635949		2203	4300	6503	SO:0001819	synonymous_variant			AL449244	CCDS14086.1	22q13.33	2006-07-06			ENSG00000170638	ENSG00000170638	80305	80305			28805	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_025204	NM_025204	NA	Approved	PP2447	uc003bjs.1	Q9H4I3	OTTHUMG00000044644	ENST00000395829.1:c.603C>T	22.37:g.50635949C>T		NA	Q19CC5|Q96ED8|Q9H7N1|Q9UGX6|Q9UGX7	37																																																																																				TRABD-005	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000316990.1		+	ENST00000395829.1	Silent	SNP	22 : 50635949 - 50635949 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	478	98
PGBD4	161779	broad.mit.edu	37	15	34395531	34395531	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34395531C>T	ENST00000397766.2	+	1	1258	c.799C>T	c.(799-801)Ccg>Tcg	p.P267S		NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	267										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		GCAGTACCTCCCGACAAAACG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	60	63			NA	NA	15		NA											NA				34395531		2201	4298	6499	SO:0001583	missense			AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405	161779	161779			19401	protein-coding gene	gene with protein product					NA		Standard		NM_152595	NA	Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.799C>T	15.37:g.34395531C>T	ENSP00000380872:p.Pro267Ser	NA	A1L487|A8K0C6|Q8N9E8	37	CCDS10033.1	.	.	.	.	.	.	.	.	.	.	c	12.00	1.807889	0.31961	.	.	ENSG00000182405	ENST00000397766	T	0.21543	2.0	0.801	-0.709	0.11237	.	1.950110	0.04017	N	0.299119	T	0.40839	0.1133	M	0.64997	1.995	0.22787	N	0.99874	D	0.76494	0.999	D	0.73708	0.981	T	0.24333	-1.0163	10	0.59425	D	0.04	.	6.0789	0.19931	0.0:0.6757:0.3243:0.0	.	267	Q96DM1	PGBD4_HUMAN	S	267	ENSP00000380872:P267S	ENSP00000380872:P267S	P	+	1	0	PGBD4	32182823	0.678000	0.27586	0.001000	0.08648	0.063000	0.16089	-0.002000	0.12924	-0.187000	0.10516	0.299000	0.19835	CCG	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251522.1		+	ENST00000397766.2	Missense_Mutation	SNP	15 : 34395531 - 34395531 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	53
CLGN	1047	broad.mit.edu	37	4	141317309	141317309	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141317309G>A	ENST00000325617.5	-	9	1375	c.935C>T	c.(934-936)gCt>gTt	p.A312V	CLGN_ENST00000414773.1_Missense_Mutation_p.A312V|CLGN_ENST00000537281.1_Missense_Mutation_p.A312V	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	312					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					AAGCCAGCCAGCAGGTTTAAC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													194	187	189			NA	NA	4		NA											NA				141317309		2203	4300	6503	SO:0001583	missense			D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132	1047	1047			2060	protein-coding gene	gene with protein product		601858			NA		Standard	NM_004362	NM_004362	NA	Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.935C>T	4.37:g.141317309G>A	ENSP00000326699:p.Ala312Val	NA	B3KS90|D3DNY8	37	CCDS3751.1	.	.	.	.	.	.	.	.	.	.	g	16.38	3.106850	0.56291	.	.	ENSG00000153132	ENST00000325617;ENST00000414773;ENST00000537281;ENST00000545667	T;T;T	0.50277	0.75;0.75;0.75	5.83	3.32	0.38043	Calreticulin/calnexin, P (2);	0.379589	0.31461	N	0.007609	T	0.30103	0.0754	N	0.17345	0.48	0.28319	N	0.922337	B	0.02656	0.0	B	0.10450	0.005	T	0.23119	-1.0197	10	0.56958	D	0.05	-6.4273	9.1602	0.37019	0.1194:0.0:0.1338:0.7468	.	312	O14967	CLGN_HUMAN	V	312;312;312;229	ENSP00000326699:A312V;ENSP00000392782:A312V;ENSP00000439381:A312V	ENSP00000326699:A312V	A	-	2	0	CLGN	141536759	0.998000	0.40836	0.997000	0.53966	0.939000	0.58152	4.223000	0.58587	1.045000	0.40225	-0.422000	0.05995	GCT	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257272.2		-	ENST00000325617.5	Missense_Mutation	SNP	4 : 141317309 - 141317309 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	882	233
CACNA1G	8913	broad.mit.edu	37	17	48701746	48701746	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48701746G>T	ENST00000352832.5	+	33	6246	c.5874G>T	c.(5872-5874)caG>caT	p.Q1958H	CACNA1G_ENST00000515765.1_Missense_Mutation_p.Q2029H|CACNA1G_ENST00000515411.1_Missense_Mutation_p.Q2022H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.Q1995H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.Q1969H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.Q1985H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.Q1935H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.Q1940H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.Q1992H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.Q1967H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.Q1974H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.Q1958H|CACNA1G_ENST00000510115.1_Missense_Mutation_p.Q2006H|CACNA1G_ENST00000442258.2_Missense_Mutation_p.Q1951H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.Q1958H|CACNA1G_ENST00000359106.5_Missense_Mutation_p.Q2085H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.Q1947H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.Q1992H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.Q1999H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.Q2040H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.Q1981H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.Q2014H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.Q1981H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.Q2051H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.Q2074H	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2085					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TTCACTCCCAGCCAGCAGATA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	32	33			NA	NA	17		NA											NA				48701746		1992	4156	6148	SO:0001583	missense			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283	8913	8913		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1394	protein-coding gene	gene with protein product		604065			NA	9495342, 16382099	Standard	NM_018896	NM_001256334	NA	Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000352832.5:c.5874G>T	17.37:g.48701746G>T	ENSP00000339302:p.Gln1958His	NA	O43498|O94770|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	37	CCDS45735.1	.	.	.	.	.	.	.	.	.	.	g	16.87	3.241904	0.58995	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98280	-4.62;-4.54;-4.49;-4.56;-4.84;-4.57;-4.73;-4.69;-4.8;-4.72;-4.69;-4.51;-4.77;-4.62;-4.64;-4.66;-4.55;-4.77;-4.59;-4.4;-4.57;-4.59;-4.67;-4.43;-4.43	5.53	3.44	0.39384	.	47.086200	0.00166	N	0.000000	D	0.98667	0.9553	L	0.55990	1.75	0.39259	D	0.964189	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.995;1.0;0.995;0.995;0.998;0.995;0.991;0.999;0.991;0.999;0.998;1.0;1.0;0.996;0.995;0.988;0.997;0.997;0.999;1.0;0.995;0.999;0.999;0.989;0.998	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;P;D	0.87578	0.989;0.984;0.983;0.991;0.995;0.921;0.991;0.998;0.991;0.971;0.993;0.993;0.984;0.993;0.974;0.805;0.921;0.992;0.998;0.984;0.989;0.961;0.997;0.854;0.921	D	0.91737	0.5401	10	0.51188	T	0.08	.	10.6152	0.45445	0.165:0.0:0.835:0.0	.	1935;1947;1940;2022;1995;1967;1999;1958;1985;1981;1992;2014;1981;2074;1974;2029;1992;2062;2040;1958;1951;2006;1969;2085;1958	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	H	1969;1958;2051;1951;2014;1981;1947;1935;1940;1958;2040;2074;1995;1985;2006;1992;1967;2029;1999;1958;2085;1974;2022;1992;1981	ENSP00000353990:Q1969H;ENSP00000339302:Q1958H;ENSP00000347078:Q2051H;ENSP00000409759:Q1951H;ENSP00000425522:Q2014H;ENSP00000426261:Q1981H;ENSP00000425451:Q1947H;ENSP00000422407:Q1935H;ENSP00000426814:Q1940H;ENSP00000427238:Q1958H;ENSP00000423112:Q2040H;ENSP00000420918:Q2074H;ENSP00000426172:Q1995H;ENSP00000423045:Q1985H;ENSP00000427173:Q2006H;ENSP00000426098:Q1992H;ENSP00000425698:Q1967H;ENSP00000426232:Q2029H;ENSP00000423317:Q1999H;ENSP00000350979:Q1958H;ENSP00000352011:Q2085H;ENSP00000414388:Q1974H;ENSP00000423155:Q2022H;ENSP00000422268:Q1992H;ENSP00000421518:Q1981H	ENSP00000339302:Q1958H	Q	+	3	2	CACNA1G	46056745	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.273000	0.51623	0.604000	0.29930	-0.367000	0.07326	CAG	CACNA1G-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367893.2		+	ENST00000352832.5	Missense_Mutation	SNP	17 : 48701746 - 48701746 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	33	6
ANK3	288	broad.mit.edu	37	10	62023664	62023664	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:62023664C>T	ENST00000280772.2	-	6	819	c.628G>A	c.(628-630)Gcc>Acc	p.A210T	ANK3_ENST00000373827.2_Missense_Mutation_p.A204T|ANK3_ENST00000503366.1_Missense_Mutation_p.A193T	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	NA					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCTTTTCGGGCCGCGATATGA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	95	101			NA	NA	10		NA											NA				62023664		2203	4300	6503	SO:0001583	missense			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150	288	288		Ankyrin repeat domain containing	494	protein-coding gene	gene with protein product	ankyrin-3, node of Ranvier, ankyrin-G	600465			NA	7665168	Standard	NM_020987	NM_020987	NA	Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.628G>A	10.37:g.62023664C>T	ENSP00000280772:p.Ala210Thr	NA	Q5VXD5	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	34	5.353870	0.95830	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000503925	T;T;T;T	0.72725	0.23;0.23;2.04;-0.68	5.18	5.18	0.71444	Ankyrin repeat-containing domain (3);	0.000000	0.39274	N	0.001413	D	0.85418	0.5692	M	0.79926	2.475	0.80722	D	1	D;D;D	0.89917	0.995;1.0;1.0	D;D;D	0.97110	0.991;1.0;0.999	D	0.87025	0.2131	10	0.87932	D	0	.	18.879	0.92350	0.0:1.0:0.0:0.0	.	193;204;210	E9PE32;Q5CZH9;Q12955	.;.;ANK3_HUMAN	T	210;204;193;172;184	ENSP00000280772:A210T;ENSP00000362933:A204T;ENSP00000425236:A193T;ENSP00000426011:A184T	ENSP00000280772:A210T	A	-	1	0	ANK3	61693670	1.000000	0.71417	0.968000	0.41197	0.673000	0.39480	7.647000	0.83462	2.696000	0.92011	0.655000	0.94253	GCC	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048201.4		-	ENST00000280772.2	Missense_Mutation	SNP	10 : 62023664 - 62023664 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	327	72
ELAVL2	1993	broad.mit.edu	37	9	23765066	23765066	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:23765066G>A	ENST00000380110.4	-	2	80	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	ELAVL2_ENST00000397312.2_Intron|ELAVL2_ENST00000223951.6_Intron|ELAVL2_ENST00000544538.1_Intron|ELAVL2_ENST00000380117.1_Intron|ELAVL2_ENST00000462649.1_5'UTR			Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	0					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		ACATCACACAGTCTGACTGCC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													188	171	176			NA	NA	9		NA											NA				23765066		876	1991	2867	SO:0001819	synonymous_variant			BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105	1993	1993		RNA binding motif (RRM) containing	3313	protein-coding gene	gene with protein product	Hu antigen B	601673	ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2, ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)		NA	8812435	Standard	NM_004432	NM_004432	NA	Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000380110.4:c.13C>T	9.37:g.23765066G>A		NA	D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	37																																																																																				ELAVL2-004	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000051946.3		-	ENST00000380110.4	Silent	SNP	9 : 23765066 - 23765066 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	588	125
CNNM1	26507	broad.mit.edu	37	10	101136957	101136957	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101136957C>T	ENST00000356713.4	+	7	2611	c.2322C>T	c.(2320-2322)agC>agT	p.S774S	CNNM1_ENST00000446890.1_Silent_p.S703S|CNNM1_ENST00000370534.4_Silent_p.S430S|CNNM1_ENST00000488090.1_3'UTR|CNNM1_ENST00000370528.3_Silent_p.S703S	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	774					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		ACATCCTCAGCGATGTGCAGT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	99	111			NA	NA	10		NA											NA				101136957		2203	4300	6503	SO:0001819	synonymous_variant			AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946	26507	26507			102	protein-coding gene	gene with protein product		607802	cyclin M1	ACDP1	NA	21393841	Standard	NM_020348	NM_020348	NA	Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.2322C>T	10.37:g.101136957C>T		NA	Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	37	CCDS7478.2																																																																																			CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049792.2		+	ENST00000356713.4	Silent	SNP	10 : 101136957 - 101136957 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	138	21
UBAP2	55833	broad.mit.edu	37	9	33953440	33953440	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33953440A>G	ENST00000379238.1	-	12	1016	c.899T>C	c.(898-900)gTt>gCt	p.V300A	UBAP2_ENST00000418786.2_Missense_Mutation_p.V247A|UBAP2_ENST00000449054.1_Missense_Mutation_p.V300A|UBAP2_ENST00000360802.1_Missense_Mutation_p.V300A|UBAP2_ENST00000379239.4_Missense_Mutation_p.V33A|UBAP2_ENST00000539807.1_Missense_Mutation_p.V55A			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	300										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ACTGTGAGGAACAGGCTTCTG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	83	85			NA	NA	9		NA											NA				33953440		2203	4300	6503	SO:0001583	missense			AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073	55833	55833			14185	protein-coding gene	gene with protein product					NA	8871400	Standard	NM_018449	NM_018449	NA	Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.899T>C	9.37:g.33953440A>G	ENSP00000368540:p.Val300Ala	NA	Q2M2R4|Q6PK34|Q8NC94|Q9P237	37	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	A	10.77	1.443080	0.25987	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379260;ENST00000379239;ENST00000539807;ENST00000418786;ENST00000412543;ENST00000421278	T;T;T;T;T;T;T	0.32272	2.73;2.73;2.73;2.43;2.46;2.15;1.46	5.85	3.75	0.43078	.	0.868511	0.10085	N	0.717893	T	0.12732	0.0309	N	0.05383	-0.06	0.29230	N	0.873314	B;B;B;B;B;B;B	0.21753	0.001;0.06;0.001;0.001;0.001;0.036;0.041	B;B;B;B;B;B;B	0.24974	0.004;0.012;0.001;0.001;0.001;0.005;0.057	T	0.39035	-0.9633	10	0.02654	T	1	-1.2114	3.8293	0.08867	0.4813:0.1924:0.3263:0.0	.	247;225;55;33;209;225;300	E7EWG4;F5H4D5;F5H2U4;A6NCA8;F5H2C8;B4DH66;Q5T6F2	.;.;.;.;.;.;UBAP2_HUMAN	A	300;300;300;209;218;33;55;247;247;154	ENSP00000368540:V300A;ENSP00000416932:V300A;ENSP00000354039:V300A;ENSP00000368541:V33A;ENSP00000439329:V55A;ENSP00000404436:V247A;ENSP00000414800:V247A	ENSP00000354039:V300A	V	-	2	0	UBAP2	33943440	0.997000	0.39634	1.000000	0.80357	0.749000	0.42624	1.619000	0.36965	0.527000	0.28560	0.413000	0.27773	GTT	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000001071.1		-	ENST00000379238.1	Missense_Mutation	SNP	9 : 33953440 - 33953440 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	46
C17orf49	124944	broad.mit.edu	37	17	6920612	6920612	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6920612C>A	ENST00000546495.1	+	6	914	c.551C>A	c.(550-552)tCt>tAt	p.S184Y	C17orf49_ENST00000552402.1_3'UTR|C17orf49_ENST00000552775.1_Missense_Mutation_p.S158Y|MIR497HG_ENST00000572453.1_RNA|RNASEK-C17orf49_ENST00000547302.2_Missense_Mutation_p.L225M|RP11-589P10.7_ENST00000572547.1_RNA|C17orf49_ENST00000439424.2_3'UTR|C17orf49_ENST00000546760.1_Missense_Mutation_p.S149Y|C17orf49_ENST00000547709.1_3'UTR|MIR497HG_ENST00000443997.1_RNA			Q8IXM2	BAP18_HUMAN	chromosome 17 open reading frame 49	0					chromatin modification	MLL1 complex|NURF complex	DNA binding			kidney(1)|large_intestine(2)|ovary(1)	4						CTCATGACCTCTGCTGATCCT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													202	175	184			NA	NA	17		NA											NA				6920612		2203	4300	6503	SO:0001583	missense			AK055800	CCDS32542.1, CCDS45595.1, CCDS45596.1	17p13.1	2013-02-11			ENSG00000258315	ENSG00000258315	124944	124944			28737	protein-coding gene	gene with protein product	BPTF associated protein of 18 kDa, human embryo lung cellular protein interacting with SARS-CoV nsp-10				NA		Standard	NM_174893	NM_174893	NA	Approved	MGC49942, BAP18, HEPIS		Q8IXM2	OTTHUMG00000170147	ENST00000546495.1:c.551C>A	17.37:g.6920612C>A	ENSP00000448598:p.Ser184Tyr	NA	B4DIV3	37	CCDS45595.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.18|15.18	2.758440|2.758440	0.49468|0.49468	.|.	.|.	ENSG00000161939|ENSG00000258315	ENST00000547302|ENST00000546495;ENST00000546760;ENST00000552775	.|.	.|.	.|.	5.02|5.02	4.02|4.02	0.46733|0.46733	.|.	.|.	.|.	.|.	.|.	T|T	0.46908|0.46908	0.1417|0.1417	L|L	0.29908|0.29908	0.895|0.895	0.31099|0.31099	N|N	0.710612|0.710612	.|P	.|0.41848	.|0.763	.|P	.|0.44359	.|0.447	T|T	0.62487|0.62487	-0.6844|-0.6844	4|7	.|0.72032	.|D	.|0.01	.|.	12.9815|12.9815	0.58567|0.58567	0.0:0.8356:0.1643:0.0|0.0:0.8356:0.1643:0.0	.|.	.|184	.|C9J4G0	.|.	M|Y	225|184;149;158	.|.	.|ENSP00000448598:S184Y	L|S	+|+	1|2	2|0	C17orf49|AC040977.1	6861336|6861336	0.998000|0.998000	0.40836|0.40836	0.803000|0.803000	0.32268|0.32268	0.964000|0.964000	0.63967|0.63967	3.213000|3.213000	0.51153|0.51153	1.076000|1.076000	0.40961|0.40961	0.313000|0.313000	0.20887|0.20887	CTG|TCT	C17orf49-006	KNOWN	not_organism_supported|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407662.1		+	ENST00000546495.1	Missense_Mutation	SNP	17 : 6920612 - 6920612 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	657	118
SETD4	54093	broad.mit.edu	37	21	37416128	37416128	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37416128C>A	ENST00000399215.1	-	6	2225	c.853G>T	c.(853-855)Gga>Tga	p.G285*	SETD4_ENST00000399201.1_Nonsense_Mutation_p.G261*|SETD4_ENST00000399208.2_Nonsense_Mutation_p.G285*|SETD4_ENST00000332131.4_Nonsense_Mutation_p.G285*|AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000399207.1_Nonsense_Mutation_p.G285*|SETD4_ENST00000399205.1_Nonsense_Mutation_p.G261*|SETD4_ENST00000399212.1_Nonsense_Mutation_p.G261*|SETD4_ENST00000481477.1_5'UTR			Q9NVD3	SETD4_HUMAN	SET domain containing 4	285										autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						GAAACAAATCCGTATTCCAGG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	98	104			NA	NA	21		NA											NA				37416128		2203	4300	6503	SO:0001587	stop_gained			AK001660	CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1	21q22.13	2006-02-15	2006-02-15	2006-02-15	ENSG00000185917	ENSG00000185917	54093	54093			1258	protein-coding gene	gene with protein product			chromosome 21 open reading frame 27, chromosome 21 open reading frame 18	C21orf27, C21orf18	NA		Standard	NM_017438	XM_005261000	NA	Approved		uc021wiy.1	Q9NVD3	OTTHUMG00000086483	ENST00000399215.1:c.853G>T	21.37:g.37416128C>A	ENSP00000382163:p.Gly285*	NA	B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	37	CCDS13640.1	.	.	.	.	.	.	.	.	.	.	C	48	13.959075	0.99772	.	.	ENSG00000185917	ENST00000399215;ENST00000399212;ENST00000332131;ENST00000399205;ENST00000399208;ENST00000399201;ENST00000399207	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.3083	19.7767	0.96398	0.0:1.0:0.0:0.0	.	.	.	.	X	285;261;285;261;285;261;285	.	ENSP00000329189:G285X	G	-	1	0	SETD4	36337998	1.000000	0.71417	0.821000	0.32701	0.067000	0.16453	6.948000	0.75965	2.751000	0.94390	0.555000	0.69702	GGA	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000194456.1		-	ENST00000399215.1	Nonsense_Mutation	SNP	21 : 37416128 - 37416128 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	17
ERBB4	2066	broad.mit.edu	37	2	212285171	212285171	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212285171T>C	ENST00000342788.4	-	25	3440	c.3130A>G	c.(3130-3132)Aat>Gat	p.N1044D	ERBB4_ENST00000436443.1_Missense_Mutation_p.N1044D|ERBB4_ENST00000402597.1_Missense_Mutation_p.N1034D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1044					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CTTACCCTATTCGAGTCAATT	0.343		NA								TSP Lung(8;0.080)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	60	61			NA	NA	2		NA											NA				212285171		2203	4300	6503	SO:0001583	missense			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568	2066	2066			3432	protein-coding gene	gene with protein product		600543	v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4		NA	7700649, 17018285	Standard	NM_001042599	NM_001042599	NA	Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3130A>G	2.37:g.212285171T>C	ENSP00000342235:p.Asn1044Asp	NA	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	37	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.176860	0.57692	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.74737	-0.87;-0.87;-0.87	5.88	5.88	0.94601	.	0.047923	0.85682	D	0.000000	T	0.61098	0.2320	N	0.08118	0	0.58432	D	0.999992	P;B;P;P	0.41848	0.763;0.03;0.763;0.651	B;B;B;B	0.42361	0.385;0.049;0.385;0.214	T	0.66460	-0.5918	10	0.42905	T	0.14	.	16.2792	0.82664	0.0:0.0:0.0:1.0	.	1034;1034;1044;1044	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	D	1044;1044;1034	ENSP00000342235:N1044D;ENSP00000403204:N1044D;ENSP00000385565:N1034D	ENSP00000342235:N1044D	N	-	1	0	ERBB4	211993416	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	7.668000	0.83897	2.243000	0.73865	0.533000	0.62120	AAT	ERBB4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256597.1		-	ENST00000342788.4	Missense_Mutation	SNP	2 : 212285171 - 212285171 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	169	38
WDR37	22884	broad.mit.edu	37	10	1175231	1175231	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1175231C>T	ENST00000358220.1	+	14	1576	c.1432C>T	c.(1432-1434)Cgg>Tgg	p.R478W	WDR37_ENST00000263150.4_Missense_Mutation_p.R478W			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	478										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		TGGGTTTGACCGGCAAGCCAT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	99	108			NA	NA	10		NA											NA				1175231		2203	4300	6503	SO:0001583	missense			AB023199	CCDS7057.1	10p15.3	2013-01-09			ENSG00000047056	ENSG00000047056	22884	22884		WD repeat domain containing	31406	protein-coding gene	gene with protein product					NA	10231032, 11230166	Standard	NM_014023	NM_014023	NA	Approved	KIAA0982	uc001igf.1	Q9Y2I8	OTTHUMG00000017540	ENST00000358220.1:c.1432C>T	10.37:g.1175231C>T	ENSP00000350954:p.Arg478Trp	NA	D3DRQ7|Q5SW03|Q9NTJ6	37	CCDS7057.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265075	0.80358	.	.	ENSG00000047056	ENST00000358220;ENST00000263150	T;T	0.01379	4.96;4.96	5.72	2.29	0.28610	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.09598	0.0236	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.981	T	0.02294	-1.1181	10	0.87932	D	0	.	16.0685	0.80907	0.2373:0.7627:0.0:0.0	.	479;478	A8K976;Q9Y2I8	.;WDR37_HUMAN	W	478	ENSP00000350954:R478W;ENSP00000263150:R478W	ENSP00000263150:R478W	R	+	1	2	WDR37	1165231	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	3.468000	0.53086	0.482000	0.27582	0.561000	0.74099	CGG	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046418.1		+	ENST00000358220.1	Missense_Mutation	SNP	10 : 1175231 - 1175231 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	327	54
OR7D4	125958	broad.mit.edu	37	19	9324922	9324922	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9324922C>T	ENST00000308682.2	-	1	620	c.592G>A	c.(592-594)Gtc>Atc	p.V198I		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						ACATACAAGACAATGTTATTG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	100	102			NA	NA	19		NA											NA				9324922		2203	4300	6503	SO:0001583	missense				CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667	125958	125958		GPCR / Class A : Olfactory receptors	8380	protein-coding gene	gene with protein product		611538		OR7D4P	NA		Standard		NM_001005191	NA	Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.592G>A	19.37:g.9324922C>T	ENSP00000310488:p.Val198Ile	NA	A8CAH8|B9EH79	37	CCDS32901.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.475593	0.26511	.	.	ENSG00000174667	ENST00000308682	T	0.37235	1.21	4.0	-7.23	0.01480	GPCR, rhodopsin-like superfamily (1);	2.995800	0.00741	N	0.001017	T	0.25382	0.0617	L	0.39898	1.24	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.12656	-1.0539	10	0.49607	T	0.09	.	3.2699	0.06878	0.216:0.4146:0.0713:0.2981	.	198	Q8NG98	OR7D4_HUMAN	I	198	ENSP00000310488:V198I	ENSP00000310488:V198I	V	-	1	0	OR7D4	9185922	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-5.342000	0.00130	-1.946000	0.01035	-0.436000	0.05848	GTC	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449004.1		-	ENST00000308682.2	Missense_Mutation	SNP	19 : 9324922 - 9324922 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	571	99
SV2C	22987	broad.mit.edu	37	5	75428010	75428010	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75428010C>T	ENST00000502798.2	+	2	877	c.435C>T	c.(433-435)tgC>tgT	p.C145C	SV2C_ENST00000322285.7_Silent_p.C145C	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	145					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TCCAAGAATGCGGTCATGGTC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													199	198	198			NA	NA	5		NA											NA				75428010		2039	4185	6224	SO:0001819	synonymous_variant			AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012	22987	22987			30670	protein-coding gene	gene with protein product		610291			NA	10470851, 9801366	Standard		XM_005248470	NA	Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.435C>T	5.37:g.75428010C>T		NA	Q496K1|Q9UPU8	37	CCDS43331.1																																																																																			SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368700.4		+	ENST00000502798.2	Silent	SNP	5 : 75428010 - 75428010 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	571	50
ACAP1	9744	broad.mit.edu	37	17	7249714	7249714	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7249714C>T	ENST00000158762.3	+	12	1117	c.911C>T	c.(910-912)cCt>cTt	p.P304L		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	304	PH.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						TGCCAGGACCCTGTGACTGTG	0.587		NA									OREG0024135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	120	125			NA	NA	17		NA											NA				7249714		2203	4300	6503	SO:0001583	missense			D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818	9744	9744		ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing	16467	protein-coding gene	gene with protein product		607763	centaurin, beta 1	CENTB1	NA	11050434, 11062263	Standard	NM_014716	NM_014716	NA	Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.911C>T	17.37:g.7249714C>T	ENSP00000158762:p.Pro304Leu	640	Q53XN9	37	CCDS11101.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700368	0.48307	.	.	ENSG00000072818	ENST00000158762	T	0.73363	-0.74	5.7	4.73	0.59995	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.072080	0.64402	D	0.000014	T	0.65091	0.2658	L	0.28192	0.835	0.80722	D	1	P	0.49559	0.925	P	0.48270	0.572	T	0.64993	-0.6276	10	0.46703	T	0.11	.	7.7447	0.28862	0.0:0.8273:0.0:0.1727	.	304	Q15027	ACAP1_HUMAN	L	304	ENSP00000158762:P304L	ENSP00000158762:P304L	P	+	2	0	ACAP1	7190438	0.293000	0.24371	0.997000	0.53966	0.897000	0.52465	1.853000	0.39358	2.702000	0.92279	0.491000	0.48974	CCT	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000220049.4		+	ENST00000158762.3	Missense_Mutation	SNP	17 : 7249714 - 7249714 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	531	99
WDR11	55717	broad.mit.edu	37	10	122619695	122619695	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:122619695C>A	ENST00000263461.6	+	4	673	c.427C>A	c.(427-429)Ctc>Atc	p.L143I		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	143						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TTACATTGTGCTCTGGAATGC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	116	123			NA	NA	10		NA											NA				122619695		2203	4300	6503	SO:0001583	missense			AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008	55717	55717		WD repeat domain containing	13831	protein-coding gene	gene with protein product		606417	bromodomain and WD repeat domain containing 2	BRWD2	NA	10718198, 11536051	Standard		NM_018117	NA	Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.427C>A	10.37:g.122619695C>A	ENSP00000263461:p.Leu143Ile	NA	Q5VWA1|Q9P2J6	37	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678055	0.68042	.	.	ENSG00000120008	ENST00000263461	T	0.28895	1.59	5.48	3.61	0.41365	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.44414	0.1292	L	0.49126	1.545	0.53005	D	0.999962	D	0.63880	0.993	D	0.70016	0.967	T	0.20940	-1.0260	10	0.32370	T	0.25	-12.9534	10.5797	0.45248	0.0:0.7441:0.0:0.2559	.	143	Q9BZH6	WDR11_HUMAN	I	143	ENSP00000263461:L143I	ENSP00000263461:L143I	L	+	1	0	WDR11	122609685	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	2.650000	0.46665	1.326000	0.45319	0.591000	0.81541	CTC	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050707.2		+	ENST00000263461.6	Missense_Mutation	SNP	10 : 122619695 - 122619695 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	518	91
SLC5A1	6523	broad.mit.edu	37	22	32495260	32495260	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32495260G>A	ENST00000266088.4	+	12	1621	c.1371G>A	c.(1369-1371)caG>caA	p.Q457Q	SLC5A1_ENST00000543737.1_Silent_p.Q330Q	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	457					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						ATTACATCCAGTCCATCACCA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													256	236	243			NA	NA	22		NA											NA				32495260		2203	4300	6503	SO:0001819	synonymous_variant				CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170	6523	6523		Solute carriers	11036	protein-coding gene	gene with protein product	sodium/glucose cotransporter 1	182380		SGLT1	NA	8195156	Standard	NM_000343	NM_000343	NA	Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1371G>A	22.37:g.32495260G>A		NA	B2R7E2	37	CCDS13902.1																																																																																			SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075656.3		+	ENST00000266088.4	Silent	SNP	22 : 32495260 - 32495260 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1447	280
TTN	7273	broad.mit.edu	37	2	179422791	179422791	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179422791G>A	ENST00000589042.1	-	328	87514	c.87290C>T	c.(87289-87291)gCt>gTt	p.A29097V	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A27456V|TTN_ENST00000359218.5_Missense_Mutation_p.A20157V|TTN_ENST00000342175.6_Missense_Mutation_p.A20224V|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A26529V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A20032V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27456	Fibronectin type-III 112.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGTTCTCAGCAGTAATTTC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	108	110			NA	NA	2		NA											NA				179422791		1892	4116	6008	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.87290C>T	2.37:g.179422791G>A	ENSP00000467141:p.Ala29097Val	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329266	0.81690	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.63	5.63	0.86233	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.42921	0.1224	N	0.25332	0.735	0.53005	D	0.999964	P;P;P;D	0.53619	0.925;0.925;0.925;0.961	P;P;P;P	0.48270	0.572;0.572;0.572;0.572	T	0.40608	-0.9554	9	0.87932	D	0	.	20.0396	0.97574	0.0:0.0:1.0:0.0	.	20032;20157;20224;27456	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	26529;20032;20224;20157;20029	ENSP00000343764:A26529V;ENSP00000434586:A20032V;ENSP00000340554:A20224V;ENSP00000352154:A20157V	ENSP00000340554:A20224V	A	-	2	0	TTN	179131037	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.814000	0.96858	0.563000	0.77884	GCT	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179422791 - 179422791 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	496	164
KRT73	319101	broad.mit.edu	37	12	53010165	53010165	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53010165C>T	ENST00000305748.3	-	2	482		c.e2-1			NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	NA						keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGAACCGCACCTGGAACCCAT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	74	75			NA	NA	12		NA											NA				53010165		2203	4300	6503	SO:0001630	splice_region_variant			AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049	319101	319101		-, Intermediate filaments type II, keratins (basic)	28928	protein-coding gene	gene with protein product		608247			NA	12648212, 16831889	Standard	NM_175068	NM_175068	NA	Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.448-1G>A	12.37:g.53010165C>T		NA	Q32MB2	37	CCDS8834.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658507	0.67586	.	.	ENSG00000186049	ENST00000305748	.	.	.	4.82	3.92	0.45320	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5438	0.61690	0.0:0.9231:0.0:0.0769	.	.	.	.	.	-1	.	.	.	-	.	.	KRT73	51296432	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.713000	0.84693	1.347000	0.45714	0.561000	0.74099	.	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405700.1	Intron	-	ENST00000305748.3	Splice_Site	SNP	12 : 53010165 - 53010165 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	407	92
NOTCH3	4854	broad.mit.edu	37	19	15295262	15295262	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15295262C>A	ENST00000263388.2	-	16	2486		c.e16-1			NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	NA					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CATCGTGGGCCTGGGGGTAGG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CS063353	NOTCH3	S							49	45	46			NA	NA	19		NA											NA				15295262		2203	4300	6503	SO:0001630	splice_region_variant			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181	4854	4854		Ankyrin repeat domain containing	7883	protein-coding gene	gene with protein product		600276	Notch (Drosophila) homolog 3, Notch homolog 3 (Drosophila)	CADASIL	NA	7835890	Standard	NM_000435	NM_000435	NA	Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.2411-1G>T	19.37:g.15295262C>A		NA	Q9UEB3|Q9UPL3|Q9Y6L8	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578469	0.28180	.	.	ENSG00000074181	ENST00000263388	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0482	0.47872	0.0:0.9138:0.0:0.0862	.	.	.	.	.	-1	.	.	.	-	.	.	NOTCH3	15156262	1.000000	0.71417	0.749000	0.31150	0.125000	0.20455	6.577000	0.74027	2.420000	0.82092	0.655000	0.94253	.	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465714.1	Intron	-	ENST00000263388.2	Splice_Site	SNP	19 : 15295262 - 15295262 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	38
NDUFA6	4700	broad.mit.edu	37	22	42482233	42482233	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42482233C>A	ENST00000498737.2	-	3	551	c.419G>T	c.(418-420)aGg>aTg	p.R140M	NDUFA6_ENST00000470753.1_Missense_Mutation_p.R57M|NDUFA6_ENST00000602404.1_Missense_Mutation_p.R114M	NM_002490.3	NP_002481.2	P56556	NDUA6_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa	140					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5					NADH(DB00157)	ATCCTTTGGCCTTGGCGCTTC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													212	187	195			NA	NA	22		NA											NA				42482233		2203	4300	6503	SO:0001583	missense			AF047182	CCDS33656.1	22q13.2	2010-05-07	2002-08-29		ENSG00000184983	ENSG00000184983	4700	4700		LYR motif containing, Mitochondrial respiratory chain complex / Complex I	7690	protein-coding gene	gene with protein product	complex I B14 subunit	602138	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6 (14kD, B14)		NA	9763676, 9425316	Standard	NM_002490	NM_002490	NA	Approved	B14, LYRM6, CI-B14, NADHB14	uc003bcb.3	P56556	OTTHUMG00000151287	ENST00000498737.2:c.419G>T	22.37:g.42482233C>A	ENSP00000418842:p.Arg140Met	NA	B2RE54|O43675|Q6FGW0|Q6IBT8|Q6IC39	37	CCDS33656.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743576	0.89663	.	.	ENSG00000184983	ENST00000498737	T	0.66280	-0.2	6.17	4.09	0.47781	.	0.085950	0.85682	D	0.000000	T	0.74884	0.3775	M	0.87038	2.855	0.80722	D	1	D	0.54047	0.964	P	0.52856	0.711	T	0.78650	-0.2121	10	0.56958	D	0.05	-24.6463	12.8598	0.57908	0.0:0.8674:0.0:0.1326	.	140	P56556	NDUA6_HUMAN	M	140	ENSP00000418842:R140M	ENSP00000418842:R140M	R	-	2	0	NDUFA6	40812179	1.000000	0.71417	0.949000	0.38748	0.959000	0.62525	3.215000	0.51169	0.938000	0.37419	0.655000	0.94253	AGG	NDUFA6-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322089.4		-	ENST00000498737.2	Missense_Mutation	SNP	22 : 42482233 - 42482233 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	699	138
THAP4	51078	broad.mit.edu	37	2	242572744	242572744	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242572744G>A	ENST00000407315.1	-	2	1259	c.828C>T	c.(826-828)ccC>ccT	p.P276P		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	276							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GGCCCTTGTCGGGTCCCAGGC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	80	77			NA	NA	2		NA											NA				242572744		2203	4296	6499	SO:0001819	synonymous_variant			AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946	51078	51078		THAP (C2CH-type zinc finger) domain containing	23187	protein-coding gene	gene with protein product		612533			NA	12575992, 10810093	Standard	NM_015963	NM_015963	NA	Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.828C>T	2.37:g.242572744G>A		NA	Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	37	CCDS2551.1																																																																																			THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257267.3		-	ENST00000407315.1	Silent	SNP	2 : 242572744 - 242572744 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	841	215
TSC2	7249	broad.mit.edu	37	16	2112582	2112582	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2112582C>T	ENST00000219476.3	+	13	1972	c.1342C>T	c.(1342-1344)Ctg>Ttg	p.L448L	TSC2_ENST00000353929.4_Silent_p.L448L|TSC2_ENST00000382538.6_Silent_p.L399L|TSC2_ENST00000350773.4_Silent_p.L448L|TSC2_ENST00000401874.2_Silent_p.L448L|TSC2_ENST00000439673.2_Silent_p.L411L|TSC2_ENST00000568454.1_Silent_p.L459L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	448					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCTGCAGGCGCTGATGGAGAG	0.612		NA	D, Mis, N, F, S			hamartoma, renal cell			Tuberous Sclerosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		E, O	0													45	44	44			NA	NA	16		NA											NA				2112582		2198	4300	6498	SO:0001819	synonymous_variant	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197	7249	7249			12363	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 160	191092		TSC4	NA	1303246, 7558029	Standard	NM_000548	NM_001077183	NA	Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1342C>T	16.37:g.2112582C>T		NA	A7E2E2|B4DIQ7|B4DRN2|C9J378|O75275|Q4LE71|Q8TAZ1	37	CCDS10458.1																																																																																			TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250657.2		+	ENST00000219476.3	Silent	SNP	16 : 2112582 - 2112582 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	78	13
RFK	55312	broad.mit.edu	37	9	79003496	79003496	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79003496C>T	ENST00000376736.1	-	3	644	c.311G>A	c.(310-312)aGa>aAa	p.R104K	RFK_ENST00000479197.1_5'UTR	NM_018339.5	NP_060809.3	Q969G6	RIFK_HUMAN	riboflavin kinase	104					riboflavin biosynthetic process	cytosol	ATP binding|metal ion binding|riboflavin kinase activity			pancreas(1)|prostate(1)|urinary_tract(1)	3					Riboflavin(DB00140)	CTTTTCTGGTCTCAGGTAGCC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	103	104			NA	NA	9		NA											NA				79003496		2203	4300	6503	SO:0001583	missense			AK002011	CCDS35044.1, CCDS35044.2	9q21.31	2010-11-16			ENSG00000135002	ENSG00000135002	55312	55312			30324	protein-coding gene	gene with protein product		613010			NA	14580199	Standard	NM_018339	NM_018339	NA	Approved	FLJ11149, RIFK	uc004akd.2	Q969G6	OTTHUMG00000020040	ENST00000376736.1:c.311G>A	9.37:g.79003496C>T	ENSP00000365926:p.Arg104Lys	NA	Q5JSG9|Q9NUT7	37	CCDS35044.2	.	.	.	.	.	.	.	.	.	.	C	34	5.302673	0.95601	.	.	ENSG00000135002	ENST00000376736;ENST00000257452;ENST00000490113	.	.	.	4.54	4.54	0.55810	Riboflavin kinase domain (1);Riboflavin kinase domain, bacterial/eukaryotic (3);	0.000000	0.85682	D	0.000000	D	0.91429	0.7295	H	0.99516	4.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95531	0.8603	9	0.87932	D	0	-25.8219	17.6612	0.88193	0.0:1.0:0.0:0.0	.	111;104	B2RDZ2;Q969G6	.;RIFK_HUMAN	K	104;111;91	.	ENSP00000257452:R111K	R	-	2	0	RFK	78193316	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.642000	0.83385	2.246000	0.74042	0.491000	0.48974	AGA	RFK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052720.1		-	ENST00000376736.1	Missense_Mutation	SNP	9 : 79003496 - 79003496 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	40
RASGRF2	5924	broad.mit.edu	37	5	80404827	80404827	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80404827A>G	ENST00000265080.4	+	13	1835	c.1768A>G	c.(1768-1770)Ata>Gta	p.I590V		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	590					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TGTGGACAATATACGATGTAA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	159	162			NA	NA	5		NA											NA				80404827		2203	4300	6503	SO:0001583	missense			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319	5924	5924		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	9876	protein-coding gene	gene with protein product		606614			NA		Standard	NM_006909	NM_006909	NA	Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.1768A>G	5.37:g.80404827A>G	ENSP00000265080:p.Ile590Val	NA	B9EG89|Q9UK56	37	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	A	16.24	3.066701	0.55539	.	.	ENSG00000113319	ENST00000265080	T	0.53857	0.6	5.67	5.67	0.87782	Pleckstrin homology domain (1);	0.040419	0.85682	D	0.000000	T	0.47619	0.1455	L	0.42487	1.325	0.54753	D	0.999984	B	0.28605	0.217	B	0.31547	0.132	T	0.38887	-0.9640	10	0.27082	T	0.32	.	15.6369	0.76961	1.0:0.0:0.0:0.0	.	590	O14827	RGRF2_HUMAN	V	590	ENSP00000265080:I590V	ENSP00000265080:I590V	I	+	1	0	RASGRF2	80440583	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.224000	0.78042	2.165000	0.68154	0.454000	0.30748	ATA	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239215.2		+	ENST00000265080.4	Missense_Mutation	SNP	5 : 80404827 - 80404827 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	312	51
DUSP7	1849	broad.mit.edu	37	3	52087977	52087977	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52087977G>T	ENST00000495880.1	-	2	1114	c.931C>A	c.(931-933)Cct>Act	p.P311T	DUSP7_ENST00000296483.6_Missense_Mutation_p.P260T			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	311	Tyrosine-protein phosphatase.				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|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	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATGGCCTCAGGGAAGAACTGG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	126	126			NA	NA	3		NA											NA				52087977		2203	4300	6503	SO:0001583	missense			X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086	1849	1849		Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases	3073	protein-coding gene	gene with protein product		602749			NA	8626780, 9205128	Standard	NM_001947	NM_001947	NA	Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.931C>A	3.37:g.52087977G>T	ENSP00000417183:p.Pro311Thr	NA	Q2M3J7|Q8NFJ0	37	CCDS33766.2	.	.	.	.	.	.	.	.	.	.	G	29.9	5.049044	0.93740	.	.	ENSG00000164086	ENST00000495880;ENST00000296483;ENST00000469623	D;D;D	0.86030	-2.06;-2.06;-2.06	5.54	5.54	0.83059	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.92724	0.7687	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92917	0.6352	10	0.72032	D	0.01	.	19.4497	0.94862	0.0:0.0:1.0:0.0	.	260;311	Q16829-2;Q16829	.;DUS7_HUMAN	T	311;260;244	ENSP00000417183:P311T;ENSP00000296483:P260T;ENSP00000418566:P244T	ENSP00000296483:P260T	P	-	1	0	DUSP7	52063017	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.785000	0.99042	2.757000	0.94681	0.643000	0.83706	CCT	DUSP7-001	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349697.1		-	ENST00000495880.1	Missense_Mutation	SNP	3 : 52087977 - 52087977 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	514	95
USH2A	7399	broad.mit.edu	37	1	216062136	216062136	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216062136T>A	ENST00000307340.3	-	41	8241	c.7855A>T	c.(7855-7857)Aca>Tca	p.T2619S	USH2A_ENST00000366943.2_Missense_Mutation_p.T2619S|RP5-1111A8.3_ENST00000414995.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2619	Fibronectin type-III 12.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCTGGGAGTGTCCATACAGTC	0.502		NA								HNSCC(13;0.011)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	85	85			NA	NA	1		NA											NA				216062136		2203	4300	6503	SO:0001583	missense			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781	7399	7399		Fibronectin type III domain containing	12601	protein-coding gene	gene with protein product	usherin	608400		USH2	NA	9624053, 10729113	Standard	NM_007123	NM_007123	NA	Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7855A>T	1.37:g.216062136T>A	ENSP00000305941:p.Thr2619Ser	NA	Q5VVM9|Q6S362|Q9NS27	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	19.15	3.771514	0.69992	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.65178	-0.14;-0.14	5.84	5.84	0.93424	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.44285	D	0.000477	T	0.81034	0.4739	M	0.86028	2.79	0.51767	D	0.999934	D	0.89917	1.0	D	0.72075	0.976	T	0.82725	-0.0315	10	0.48119	T	0.1	.	16.2302	0.82332	0.0:0.0:0.0:1.0	.	2619	O75445	USH2A_HUMAN	S	2619	ENSP00000305941:T2619S;ENSP00000355910:T2619S	ENSP00000305941:T2619S	T	-	1	0	USH2A	214128759	1.000000	0.71417	0.998000	0.56505	0.166000	0.22503	7.442000	0.80503	2.228000	0.72767	0.533000	0.62120	ACA	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128138.1		-	ENST00000307340.3	Missense_Mutation	SNP	1 : 216062136 - 216062136 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	343	89
TLDC1	57707	broad.mit.edu	37	16	84513633	84513633	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84513633C>A	ENST00000343629.6	-	8	1440		c.e8-1		TLDC1_ENST00000535580.1_Splice_Site	NM_020947.3	NP_065998.3			TBC/LysM-associated domain containing 1	NA											NA						TGCCCTTGGCCTTGAGAAGAG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	41	44			NA	NA	16		NA											NA				84513633		2200	4300	6500	SO:0001630	splice_region_variant			AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950	57707	57707			29325	protein-coding gene	gene with protein product	TLD domain containing 1		KIAA1609	KIAA1609	NA	10997877	Standard	NM_020947	NM_020947	NA	Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.1258-1G>T	16.37:g.84513633C>A		NA		37	CCDS32498.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.853256	0.71719	.	.	ENSG00000140950	ENST00000343629;ENST00000545792;ENST00000535580	.	.	.	4.75	3.77	0.43336	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9405	0.64052	0.1534:0.8466:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA1609	83071134	0.998000	0.40836	0.484000	0.27391	0.649000	0.38597	4.493000	0.60341	1.260000	0.44134	0.655000	0.94253	.	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000433421.1	Intron	-	ENST00000343629.6	Splice_Site	SNP	16 : 84513633 - 84513633 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	167	42
TAF2	6873	broad.mit.edu	37	8	120803660	120803660	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120803660A>G	ENST00000378164.2	-	11	1615	c.1317T>C	c.(1315-1317)caT>caC	p.H439H		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	439					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGGACAGTGTATGTGGATGCT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	95	97			NA	NA	8		NA											NA				120803660		2203	4299	6502	SO:0001819	synonymous_variant			AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313	6873	6873			11536	protein-coding gene	gene with protein product		604912	TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD	TAF2B	NA	9774672, 9418870	Standard	NM_003184	NM_003184	NA	Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.1317T>C	8.37:g.120803660A>G		NA	B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	37	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	A	6.538	0.467601	0.12402	.	.	ENSG00000064313	ENST00000523904	.	.	.	4.79	-1.66	0.08265	.	.	.	.	.	T	0.57961	0.2089	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55642	-0.8109	4	.	.	.	-28.6868	11.6465	0.51263	0.4583:0.0:0.5417:0.0	.	.	.	.	T	132	.	.	I	-	2	0	TAF2	120872841	1.000000	0.71417	0.878000	0.34440	0.747000	0.42532	1.180000	0.32005	-0.229000	0.09854	-0.456000	0.05471	ATA	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381436.1		-	ENST00000378164.2	Silent	SNP	8 : 120803660 - 120803660 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	255	48
TMEM198	130612	broad.mit.edu	37	2	220409581	220409581	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220409581G>A	ENST00000344458.2	+	3	717	c.132G>A	c.(130-132)atG>atA	p.M44I	TMEM198_ENST00000373883.3_Missense_Mutation_p.M44I			Q66K66	TM198_HUMAN	transmembrane protein 198	44						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TCTGCATCATGTGCTGTTTGT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	114	119			NA	NA	2		NA											NA				220409581		2203	4300	6503	SO:0001583	missense			BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760	130612	130612			33704	protein-coding gene	gene with protein product					NA		Standard	NM_001005209	NM_001005209	NA	Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.132G>A	2.37:g.220409581G>A	ENSP00000343507:p.Met44Ile	NA		37	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058557	0.55325	.	.	ENSG00000188760	ENST00000344458;ENST00000421791;ENST00000373883;ENST00000451952	.	.	.	4.09	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.52885	0.1762	L	0.42686	1.345	0.48762	D	0.999707	P	0.47841	0.901	P	0.46208	0.507	T	0.48387	-0.9040	9	0.11485	T	0.65	-32.5733	16.4838	0.84179	0.0:0.0:1.0:0.0	.	44	Q66K66	TM198_HUMAN	I	44;44;44;130	.	ENSP00000343507:M44I	M	+	3	0	TMEM198	220117825	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.573000	0.67417	2.305000	0.77605	0.555000	0.69702	ATG	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131063.1		+	ENST00000344458.2	Missense_Mutation	SNP	2 : 220409581 - 220409581 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	596	92
ABCB5	340273	broad.mit.edu	37	7	20683249	20683249	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20683249T>C	ENST00000404938.2	+	7	1324	c.672T>C	c.(670-672)tgT>tgC	p.C224C		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	410			K -> R (in dbSNP:rs13222448).		regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CGGCAGCATGTTCTAGGGTAA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	70	74			NA	NA	7		NA											NA				20683249		1568	3582	5150	SO:0001819	synonymous_variant			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846	340273	340273		ATP binding cassette transporters / subfamily B	46	protein-coding gene	gene with protein product	P-glycoprotein ABCB5, ATP-binding cassette protein	611785			NA	8894702, 12960149	Standard	NM_178559	NM_001163942	NA	Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.672T>C	7.37:g.20683249T>C		NA	A4D131|B7WPL1|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	37	CCDS55090.1																																																																																			ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326736.2		+	ENST00000404938.2	Silent	SNP	7 : 20683249 - 20683249 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	221	19
OR6M1	390261	broad.mit.edu	37	11	123676536	123676536	+	Missense_Mutation	SNP	G	G	T	rs141670886		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123676536G>T	ENST00000309154.2	-	1	559	c.522C>A	c.(520-522)ttC>ttA	p.F174L		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TGTCACAGAAGAAATGATTAA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	65	65			NA	NA	11		NA											NA				123676536		2202	4299	6501	SO:0001583	missense			AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099	390261	390261		GPCR / Class A : Olfactory receptors	14711	protein-coding gene	gene with protein product					NA		Standard	NM_001005325	NM_001005325	NA	Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.522C>A	11.37:g.123676536G>T	ENSP00000311038:p.Phe174Leu	NA	B2RNK0|Q6IEW9|Q96R37	37	CCDS31696.1	.	.	.	.	.	.	.	.	.	.	g	13.76	2.334129	0.41297	.	.	ENSG00000196099	ENST00000309154	T	0.00346	8.01	3.58	-3.19	0.05171	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33875	U	0.004472	T	0.00637	0.0021	M	0.83118	2.625	0.20563	N	0.999886	D	0.89917	1.0	D	0.80764	0.994	T	0.15780	-1.0425	10	0.87932	D	0	.	10.1732	0.42922	0.4371:0.0:0.5629:0.0	.	174	Q8NGM8	OR6M1_HUMAN	L	174	ENSP00000311038:F174L	ENSP00000311038:F174L	F	-	3	2	OR6M1	123181746	0.000000	0.05858	0.285000	0.24819	0.682000	0.39822	-0.574000	0.05868	-0.616000	0.05671	-1.149000	0.01842	TTC	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387437.1		-	ENST00000309154.2	Missense_Mutation	SNP	11 : 123676536 - 123676536 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	72
CACNA1A	773	broad.mit.edu	37	19	13410018	13410018	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13410018T>C	ENST00000360228.5	-	19	2428	c.2429A>G	c.(2428-2430)cAc>cGc	p.H810R	CACNA1A_ENST00000573710.2_Missense_Mutation_p.H811R	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	811					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TGGCCGCAGGTGCCGCGTGTA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	52	49			NA	NA	19		NA											NA				13410018		2028	4151	6179	SO:0001583	missense			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837	773	773		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP	NA	8825650, 16382099, 23827678	Standard	NM_000068	NM_000068	NA	Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.2429A>G	19.37:g.13410018T>C	ENSP00000353362:p.His810Arg	NA	P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9UDC4	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	T	3.288	-0.145636	0.06627	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.95918	-3.85	3.86	1.48	0.22813	.	3.771970	0.00960	N	0.003099	D	0.90621	0.7059	N	0.25485	0.75	0.22354	N	0.99917	B;P;P	0.38335	0.012;0.467;0.627	B;B;B	0.32022	0.007;0.132;0.139	T	0.82343	-0.0504	10	0.22706	T	0.39	.	9.1483	0.36946	0.0:0.0:0.4829:0.5171	.	811;814;810	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	R	810;814;811;811	ENSP00000353362:H810R	ENSP00000317661:H811R	H	-	2	0	CACNA1A	13271018	0.042000	0.20092	0.850000	0.33497	0.067000	0.16453	0.422000	0.21296	0.052000	0.16007	0.374000	0.22700	CAC	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000104062.2		-	ENST00000360228.5	Missense_Mutation	SNP	19 : 13410018 - 13410018 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	420	66
POLR2A	5430	broad.mit.edu	37	17	7417442	7417442	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7417442C>A	ENST00000322644.6	+	29	6258	c.5859C>A	c.(5857-5859)acC>acA	p.T1953T		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1953	52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CCAGCCCCACCTACAGTCTCA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	69	72			NA	NA	17		NA											NA				7417442		2203	4300	6503	SO:0001819	synonymous_variant					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	5430	5430	2.7.7.6	RNA polymerase subunits	9187	protein-coding gene	gene with protein product	DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit, RNA polymerase II subunit B1	180660	polymerase (RNA) II (DNA directed) polypeptide A (220kD)	POLR2	NA		Standard	NM_000937	NM_000937	NA	Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.5859C>A	17.37:g.7417442C>A		NA	A6NN93|B9EH88	37	CCDS32548.1																																																																																			POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437967.1		+	ENST00000322644.6	Silent	SNP	17 : 7417442 - 7417442 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	262	13
ZNF184	7738	broad.mit.edu	37	6	27419126	27419126	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27419126G>A	ENST00000211936.6	-	6	2496	c.2212C>T	c.(2212-2214)Cgc>Tgc	p.R738C	ZNF184_ENST00000377419.1_Missense_Mutation_p.R738C	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	738					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AGAGCAGAGCGATATCTGAAG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	153	154			NA	NA	6		NA											NA				27419126		2203	4300	6503	SO:0001583	missense			U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654	7738	7738		Zinc fingers, C2H2-type, -	12975	protein-coding gene	gene with protein product		602277	zinc finger protein 184 (Kruppel-like)		NA		Standard	NM_007149	NM_007149	NA	Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.2212C>T	6.37:g.27419126G>A	ENSP00000211936:p.Arg738Cys	NA	B2R715|O60792|Q8TBA9	37	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.840953	0.32513	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.53640	0.61;0.61	5.18	4.24	0.50183	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.393509	0.19849	N	0.104669	T	0.24198	0.0586	L	0.60904	1.88	0.09310	N	1	B	0.25719	0.132	B	0.14578	0.011	T	0.02698	-1.1122	10	0.35671	T	0.21	.	10.0024	0.41938	0.0:0.0:0.7844:0.2156	.	738	Q99676	ZN184_HUMAN	C	738;738;654	ENSP00000211936:R738C;ENSP00000366636:R738C	ENSP00000211936:R738C	R	-	1	0	ZNF184	27527105	0.000000	0.05858	0.398000	0.26321	0.956000	0.61745	0.775000	0.26689	2.696000	0.92011	0.591000	0.81541	CGC	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040146.1		-	ENST00000211936.6	Missense_Mutation	SNP	6 : 27419126 - 27419126 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	647	124
SPEF2	79925	broad.mit.edu	37	5	35740046	35740046	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35740046A>G	ENST00000440995.2	+	22	3074	c.3074A>G	c.(3073-3075)tAc>tGc	p.Y1025C	SPEF2_ENST00000356031.3_Missense_Mutation_p.Y1030C|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1030					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)			TTAGTACCTTACTGGGAACTA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	71	73			NA	NA	5		NA											NA				35740046		1826	4079	5905	SO:0001583	missense			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.3074A>G	5.37:g.35740046A>G	ENSP00000412125:p.Tyr1025Cys	NA	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	37		.	.	.	.	.	.	.	.	.	.	A	18.55	3.649146	0.67358	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.06687	3.28;3.27	5.83	4.63	0.57726	.	0.217033	0.39146	N	0.001450	T	0.27241	0.0668	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.963	T	0.01056	-1.1466	10	0.72032	D	0.01	.	12.3798	0.55301	0.8742:0.0:0.0:0.1258	.	1025;1030	Q9C093-2;Q9C093	.;SPEF2_HUMAN	C	1030;1025	ENSP00000348314:Y1030C;ENSP00000412125:Y1025C	ENSP00000348314:Y1030C	Y	+	2	0	SPEF2	35775803	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.396000	0.59684	2.236000	0.73375	0.533000	0.62120	TAC	SPEF2-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000367203.1		+	ENST00000440995.2	Missense_Mutation	SNP	5 : 35740046 - 35740046 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	54
NDOR1	27158	broad.mit.edu	37	9	140110152	140110152	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140110152G>A	ENST00000371521.4	+	11	1413	c.1330G>A	c.(1330-1332)Gcc>Acc	p.A444T	NDOR1_ENST00000344894.5_Missense_Mutation_p.A444T|NDOR1_ENST00000458322.2_Missense_Mutation_p.A437T|NDOR1_ENST00000427047.2_Missense_Mutation_p.A410T	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	444	FAD-binding FR-type.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TGGGAGTCTGGCCTTCCCAGA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	52	50			NA	NA	9		NA											NA				140110152		2202	4300	6502	SO:0001583	missense			BC015735	CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1	9q34.3	2008-02-05			ENSG00000188566	ENSG00000188566	27158	27158			29838	protein-coding gene	gene with protein product	NADPH dependent FMN and FAD containing oxidoreductase	606073			NA	10625700, 12631275	Standard	NM_014434	XM_005266066	NA	Approved	NR1, bA350O14.9	uc004clx.3	Q9UHB4	OTTHUMG00000020986	ENST00000371521.4:c.1330G>A	9.37:g.140110152G>A	ENSP00000360576:p.Ala444Thr	NA	Q5VSG4|Q86US9|Q96BC6	37	CCDS48061.1	.	.	.	.	.	.	.	.	.	.	G	8.072	0.770454	0.15983	.	.	ENSG00000188566	ENST00000458322;ENST00000427047;ENST00000371521;ENST00000344894	T;T;T;T	0.03242	4.27;4.0;4.24;4.24	4.68	0.973	0.19710	Ferredoxin reductase-type FAD-binding domain (1);	0.403386	0.25701	N	0.028879	T	0.01156	0.0038	N	0.00666	-1.275	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.001	T	0.47275	-0.9130	10	0.37606	T	0.19	-18.318	7.1715	0.25721	0.6166:0.0:0.3834:0.0	.	437;410;444;444	D3YTG6;D3YTH9;Q9UHB4-2;Q9UHB4	.;.;.;NDOR1_HUMAN	T	437;410;444;444	ENSP00000389905:A437T;ENSP00000394309:A410T;ENSP00000360576:A444T;ENSP00000343344:A444T	ENSP00000343344:A444T	A	+	1	0	NDOR1	139229973	0.846000	0.29590	0.432000	0.26747	0.903000	0.53119	1.231000	0.32624	0.298000	0.22638	0.561000	0.74099	GCC	NDOR1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055326.2		+	ENST00000371521.4	Missense_Mutation	SNP	9 : 140110152 - 140110152 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	375	86
TXNRD2	10587	broad.mit.edu	37	22	19868151	19868151	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19868151G>A	ENST00000400519.1	-	13	1172	c.1173C>T	c.(1171-1173)taC>taT	p.Y391Y	TXNRD2_ENST00000535882.1_Silent_p.Y391Y|TXNRD2_ENST00000400521.1_Silent_p.Y392Y|TXNRD2_ENST00000400518.1_Silent_p.Y362Y|TXNRD2_ENST00000542719.1_Silent_p.Y362Y			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	392					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TCACATTGTCGTAGTCCATCA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	52	49			NA	NA	22		NA											NA				19868151		2161	4258	6419	SO:0001819	synonymous_variant			AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470	10587	10587			18155	protein-coding gene	gene with protein product	thioredoxin reductase beta, selenoprotein Z	606448			NA	9923614, 10215850, 11012661	Standard	NM_006440	NM_006440	NA	Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400519.1:c.1173C>T	22.37:g.19868151G>A		NA	O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	37																																																																																				TXNRD2-012	NOVEL	basic|appris_candidate|seleno	protein_coding	NA	protein_coding	OTTHUMT00000314921.2		-	ENST00000400519.1	Silent	SNP	22 : 19868151 - 19868151 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	310	64
FBLL1	345630	broad.mit.edu	37	5	167956993	167956993	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167956993G>T	ENST00000338333.4	+	1	873	c.484G>T	c.(484-486)Ggc>Tgc	p.G162C						fibrillarin-like 1	NA											NA						GGCCATCCTGGGCGGGGTGGA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	12	12			NA	NA	5		NA											NA				167956993		874	1990	2864	SO:0001583	missense					5q35.1	2013-03-06			ENSG00000188573	ENSG00000188573	345630	345630			35458	other	unknown					NA		Standard	NR_024356	NR_024356	NA	Approved	LOC345630	uc011dep.2	A6NHQ2	OTTHUMG00000157012	ENST00000338333.4:c.484G>T	5.37:g.167956993G>T	ENSP00000473383:p.Gly162Cys	NA		37																																																																																				FBLL1-001	PUTATIVE	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000347089.3		+	ENST00000338333.4	Missense_Mutation	SNP	5 : 167956993 - 167956993 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	64	17
MYOF	26509	broad.mit.edu	37	10	95082866	95082866	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:95082866C>T	ENST00000359263.4	-	48	5424	c.5425G>A	c.(5425-5427)Gga>Aga	p.G1809R	MYOF_ENST00000371501.4_Missense_Mutation_p.G1809R|MYOF_ENST00000371502.4_Missense_Mutation_p.G1799R|MYOF_ENST00000358334.5_Missense_Mutation_p.G1796R	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1809					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATTTCCTCTCCTGTGATGCTT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													300	282	288			NA	NA	10		NA											NA				95082866		1969	4162	6131	SO:0001583	missense			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119	26509	26509			3656	protein-coding gene	gene with protein product	fer-1-like family member 3	604603	fer-1 (C.elegans)-like 3 (myoferlin), fer-1-like 3, myoferlin (C. elegans)	FER1L3	NA	10607832, 10995573, 17702744	Standard	NM_013451	NM_013451	NA	Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.5425G>A	10.37:g.95082866C>T	ENSP00000352208:p.Gly1809Arg	NA	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	37	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	C	34	5.346743	0.95807	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-1.89	5.36	5.36	0.76844	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.047975	0.85682	N	0.000000	D	0.94466	0.8219	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94138	0.7394	10	0.51188	T	0.08	-18.5395	19.2909	0.94098	0.0:1.0:0.0:0.0	.	1796;1809	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	R	1796;1809;1809;1799	ENSP00000351094:G1796R;ENSP00000352208:G1809R;ENSP00000360556:G1809R;ENSP00000360557:G1799R	ENSP00000351094:G1796R	G	-	1	0	MYOF	95072856	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	7.651000	0.83577	2.797000	0.96272	0.563000	0.77884	GGA	MYOF-005	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049423.2		-	ENST00000359263.4	Missense_Mutation	SNP	10 : 95082866 - 95082866 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1041	141
ATAD3A	55210	broad.mit.edu	37	1	1458924	1458924	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1458924G>A	ENST00000378755.5	+	9	1178	c.1084G>A	c.(1084-1086)Gcg>Acg	p.A362T	ATAD3A_ENST00000536055.1_Missense_Mutation_p.A235T|ATAD3A_ENST00000378756.3_Missense_Mutation_p.A314T	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	362							ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		ACCCCAGGACGCGCTGGAGGG	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	50	50			NA	NA	1		NA											NA				1458924		2203	4300	6503	SO:0001583	missense			AK025865	CCDS31.1, CCDS53259.1, CCDS53260.1	1p36.33	2010-04-21		2007-02-08	ENSG00000197785	ENSG00000197785	55210	55210		ATPases / AAA-type	25567	protein-coding gene	gene with protein product		612316			NA	12477932	Standard	NM_018188	NM_018188	NA	Approved	FLJ10709	uc001afz.2	Q9NVI7	OTTHUMG00000000575	ENST00000378755.5:c.1084G>A	1.37:g.1458924G>A	ENSP00000368030:p.Ala362Thr	NA	Q5SV23|Q8N275|Q96A50	37	CCDS31.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	11.99|11.99	1.803877|1.803877	0.31869|0.31869	.|.	.|.	ENSG00000197785|ENSG00000197785	ENST00000378756;ENST00000378755;ENST00000536055|ENST00000339113	D;D;D|.	0.94497|.	-3.22;-3.08;-3.44|.	4.8|4.8	3.89|3.89	0.44902|0.44902	.|.	0.111693|.	0.64402|.	D|.	0.000011|.	T|T	0.76026|0.76026	0.3930|0.3930	M|M	0.85299|0.85299	2.745|2.745	0.50813|0.50813	D|D	0.999893|0.999893	P;D|.	0.59357|.	0.786;0.985|.	B;P|.	0.46253|.	0.382;0.509|.	T|T	0.77752|0.77752	-0.2470|-0.2470	10|5	0.49607|.	T|.	0.09|.	.|.	12.0841|12.0841	0.53688|0.53688	0.084:0.0:0.916:0.0|0.084:0.0:0.916:0.0	.|.	314;362|.	D2K8Q1;Q9NVI7|.	.;ATD3A_HUMAN|.	T|H	314;362;235|299	ENSP00000368031:A314T;ENSP00000368030:A362T;ENSP00000439290:A235T|.	ENSP00000368030:A362T|.	A|R	+|+	1|2	0|0	ATAD3A|ATAD3A	1448787|1448787	1.000000|1.000000	0.71417|0.71417	0.724000|0.724000	0.30704|0.30704	0.023000|0.023000	0.10783|0.10783	5.587000|5.587000	0.67510|0.67510	1.025000|1.025000	0.39708|0.39708	0.556000|0.556000	0.70494|0.70494	GCG|CGC	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000001365.1		+	ENST00000378755.5	Missense_Mutation	SNP	1 : 1458924 - 1458924 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	203	32
RGPD3	653489	broad.mit.edu	37	2	107040250	107040250	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:107040250C>T	ENST00000409886.3	-	20	4260	c.4173G>A	c.(4171-4173)aaG>aaA	p.K1391K	RGPD3_ENST00000304514.7_Silent_p.K1391K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1391	RanBD1 2.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TACGAACGTGCTTATTATCAT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	104	114			NA	NA	2		NA											NA				107040250		692	1591	2283	SO:0001819	synonymous_variant				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165	653489	653489		Tetratricopeptide (TTC) repeat domain containing	32416	protein-coding gene	gene with protein product		612706			NA	15710750, 15815621	Standard	XM_929931	NM_001144013	NA	Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.4173G>A	2.37:g.107040250C>T		NA	B8ZZM4	37	CCDS46379.1																																																																																			RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329975.1		-	ENST00000409886.3	Silent	SNP	2 : 107040250 - 107040250 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1786	450
GALC	2581	broad.mit.edu	37	14	88431876	88431876	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88431876C>T	ENST00000261304.2	-	9	1112	c.1006G>A	c.(1006-1008)Gtg>Atg	p.V336M	GALC_ENST00000544807.2_Missense_Mutation_p.V280M|GALC_ENST00000393569.2_Missense_Mutation_p.V310M|GALC_ENST00000393568.4_Missense_Mutation_p.V313M	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	336					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GATTCTACCACGTAGTGCCCA	0.458		NA											C	4	0.0018	0.01	NA	2184	NA	0.9999	,	,	NA	0.0017	NA	NA	NA	0.0019	0.9767	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0								C	MET/VAL,MET/VAL,MET/VAL	56,3788		0,56,1866	88	96	93		1006,937,928	3.3	0.1	14		93	0,8260		0,0,4130	yes	missense,missense,missense	GALC	NM_000153.3,NM_001201401.1,NM_001201402.1	21,21,21	0,56,5996	TT,TC,CC	NA	0.0,1.4568,0.4627	possibly-damaging,possibly-damaging,possibly-damaging	336/686,313/663,310/660	88431876	56,12048	1922	4130	6052	SO:0001583	missense			L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	2581	2581	3.2.1.46		4115	protein-coding gene	gene with protein product	Krabbe disease	606890	galactosylceramidase (Krabbe disease)		NA		Standard		NM_000153	NA	Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.1006G>A	14.37:g.88431876C>T	ENSP00000261304:p.Val336Met	NA	B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|Q8J030	37	CCDS9878.2	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	14.70	2.613413	0.46631	0.014568	0.0	ENSG00000054983	ENST00000261304;ENST00000544807;ENST00000393569;ENST00000539620;ENST00000393568;ENST00000445021	D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56	6.17	3.32	0.38043	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.671454	0.15342	N	0.267443	D	0.94208	0.8141	M	0.85630	2.765	0.21064	N	0.999799	D;P;P;P;P	0.53745	0.962;0.944;0.935;0.935;0.947	B;P;P;B;P	0.54544	0.315;0.755;0.606;0.221;0.618	D	0.87709	0.2565	10	0.48119	T	0.1	-0.2496	6.8754	0.24143	0.0:0.6588:0.1291:0.2121	.	280;313;310;336;336	P54803-5;E7EPA4;P54803-4;G3XAI6;P54803	.;.;.;.;GALC_HUMAN	M	336;280;310;125;313;336	ENSP00000261304:V336M;ENSP00000437513:V280M;ENSP00000377199:V310M;ENSP00000377198:V313M	ENSP00000261304:V336M	V	-	1	0	GALC	87501629	0.000000	0.05858	0.070000	0.20053	0.844000	0.47949	0.498000	0.22530	0.447000	0.26695	0.655000	0.94253	GTG	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071559.2		-	ENST00000261304.2	Missense_Mutation	SNP	14 : 88431876 - 88431876 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	342	59
GAN	8139	broad.mit.edu	37	16	81399055	81399055	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81399055T>C	ENST00000568107.2	+	9	1636	c.1474T>C	c.(1474-1476)Tcc>Ccc	p.S492P	GAN_ENST00000567335.1_3'UTR	NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	NA					cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				AACTTGCAAGTCCGAGTTCTA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(106;1239 1507 7582 9741 33976)							NA				0													237	211	220			NA	NA	16		NA											NA				81399055		2201	4300	6501	SO:0001583	missense			AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609	8139	8139		Kelch-like, BTB/POZ domain containing	4137	protein-coding gene	gene with protein product	kelch-like family member 16	605379	giant axonal neuropathy (gigaxonin)		NA	9450783, 11062483	Standard		NM_022041	NA	Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.1474T>C	16.37:g.81399055T>C	ENSP00000476795:p.Ser492Pro	NA		37	CCDS10935.1	.	.	.	.	.	.	.	.	.	.	T	16.42	3.117291	0.56505	.	.	ENSG00000127688	ENST00000248272	T	0.66099	-0.19	5.69	5.69	0.88448	Galactose oxidase, beta-propeller (1);	63.454200	0.00357	N	0.000027	T	0.73822	0.3636	N	0.19112	0.55	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.57159	-0.7859	10	0.66056	D	0.02	.	16.2484	0.82467	0.0:0.0:0.0:1.0	.	492	Q9H2C0	GAN_HUMAN	P	492	ENSP00000248272:S492P	ENSP00000248272:S492P	S	+	1	0	GAN	79956556	1.000000	0.71417	0.998000	0.56505	0.335000	0.28730	7.749000	0.85096	2.291000	0.77112	0.533000	0.62120	TCC	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269050.3		+	ENST00000568107.2	Missense_Mutation	SNP	16 : 81399055 - 81399055 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	695	203
IQSEC1	9922	broad.mit.edu	37	3	12957129	12957129	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12957129G>A	ENST00000273221.4	-	7	2383	c.2167C>T	c.(2167-2169)Cag>Tag	p.Q723*		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	723					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCCACCTTCTGCACCTGGGAC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													205	155	172			NA	NA	3		NA											NA				12957129		2203	4300	6503	SO:0001587	stop_gained			BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711	9922	9922			29112	protein-coding gene	gene with protein product	brefeldin A-resistant ARF-GEF2	610166			NA	9872452, 8619474	Standard	NM_014869	NM_001134382	NA	Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.2167C>T	3.37:g.12957129G>A	ENSP00000273221:p.Gln723*	NA	O94863|Q96D85	37	CCDS33703.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.136507|8.136507	0.98672|0.98672	.|.	.|.	ENSG00000144711|ENSG00000144711	ENST00000450726|ENST00000273221;ENST00000435445;ENST00000429247	.|.	.|.	.|.	4.54|4.54	4.54|4.54	0.55810|0.55810	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.51702|.	0.1690|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.48410|.	-0.9038|.	3|.	.|0.08599	.|T	.|0.76	.|.	17.6453|17.6453	0.88147|0.88147	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	723|723;709;709	.|.	.|ENSP00000273221:Q723X	A|Q	-|-	2|1	0|0	IQSEC1|IQSEC1	12932129|12932129	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.823000|7.823000	0.86660|0.86660	2.229000|2.229000	0.72834|0.72834	0.655000|0.655000	0.94253|0.94253	GCA|CAG	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339865.2		-	ENST00000273221.4	Nonsense_Mutation	SNP	3 : 12957129 - 12957129 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	486	87
DEDD	9191	broad.mit.edu	37	1	161094177	161094177	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161094177G>T	ENST00000368006.3	-	3	290	c.76C>A	c.(76-78)Ctg>Atg	p.L26M	DEDD_ENST00000490843.2_Missense_Mutation_p.L26M|DEDD_ENST00000458050.2_Missense_Mutation_p.L26M|DEDD_ENST00000368005.1_Missense_Mutation_p.L26M|NIT1_ENST00000368008.1_3'UTR|DEDD_ENST00000392188.1_Missense_Mutation_p.L26M|DEDD_ENST00000545495.1_Missense_Mutation_p.L26M|DEDD_ENST00000489249.1_Intron	NM_032998.2	NP_127491.1	O75618	DEDD_HUMAN	death effector domain containing	26	DED.				apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			ATGCGGTGCAGGCTGTACAGC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	94	97			NA	NA	1		NA											NA				161094177		2203	4300	6503	SO:0001583	missense			AF043733	CCDS1219.1	1q23.1	2008-02-05	2002-01-14		ENSG00000158796	ENSG00000158796	9191	9191			2755	protein-coding gene	gene with protein product		606841	death effector domain-containing		NA	9774341, 9832420	Standard	NM_004216	XM_005245597	NA	Approved	DEFT, FLDED1, CASP8IP1, KE05, DEDD1	uc001fxz.3	O75618	OTTHUMG00000033104	ENST00000368006.3:c.76C>A	1.37:g.161094177G>T	ENSP00000356985:p.Leu26Met	NA	D3DVF5|O60737	37	CCDS1219.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844544	0.71488	.	.	ENSG00000158796	ENST00000368006;ENST00000392188;ENST00000545495;ENST00000458050;ENST00000541906;ENST00000368005;ENST00000535389	.	.	.	5.13	5.13	0.70059	DEATH-like (1);Death effector (3);	0.000000	0.85682	D	0.000000	T	0.62332	0.2419	L	0.54323	1.7	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.998;0.999;0.998	T	0.66352	-0.5945	9	0.87932	D	0	.	9.4848	0.38922	0.0932:0.0:0.9068:0.0	.	26;26;26	B4DKM1;B1AQP5;O75618	.;.;DEDD_HUMAN	M	26	.	ENSP00000356984:L26M	L	-	1	2	DEDD	159360801	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	3.905000	0.56333	2.669000	0.90835	0.655000	0.94253	CTG	DEDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080582.1		-	ENST00000368006.3	Missense_Mutation	SNP	1 : 161094177 - 161094177 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	454	89
C16orf90	646174	broad.mit.edu	37	16	3544819	3544819	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3544819G>A	ENST00000437192.3	-	2	107	c.105C>T	c.(103-105)taC>taT	p.Y35Y	LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90	25										large_intestine(1)	1						GGCCCCCCTCGTAGATGTTGG	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,3652		0,0,1826	13	15	14		105	-1.3	1	16		14	3,8051		0,3,4024	no	coding-synonymous	C16orf90	NM_001080524.1		0,3,5850	AA,AG,GG	NA	0.0372,0.0,0.0256		35/183	3544819	3,11703	1826	4027	5853	SO:0001819	synonymous_variant				CCDS45397.1	16p13.3	2009-01-29			ENSG00000215131	ENSG00000215131	646174	646174			34455	protein-coding gene	gene with protein product					NA		Standard	NM_001080524	NM_001080524	NA	Approved	LOC646174	uc002cvi.3	A8MZG2	OTTHUMG00000154627	ENST00000437192.3:c.105C>T	16.37:g.3544819G>A		NA		37	CCDS45397.1	.	.	.	.	.	.	.	.	.	.	G	8.500	0.864105	0.17250	0.0	3.72E-4	ENSG00000215131	ENST00000399645	.	.	.	5.7	-1.31	0.09230	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.0974	9.0821	0.36558	0.592:0.0:0.408:0.0	.	.	.	.	X	44	.	.	R	-	1	2	C16orf90	3484820	0.799000	0.28903	0.976000	0.42696	0.917000	0.54804	-0.431000	0.06965	-0.488000	0.06726	0.591000	0.81541	CGA	C16orf90-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346319.2		-	ENST00000437192.3	Silent	SNP	16 : 3544819 - 3544819 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	213	44
KRT2	3849	broad.mit.edu	37	12	53044171	53044171	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53044171T>G	ENST00000309680.3	-	2	773	c.752A>C	c.(751-753)aAt>aCt	p.N251T		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	251	Coil 1B.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CAGCTCTGAATTCTGTGATGT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													219	213	215			NA	NA	12		NA											NA				53044171		2203	4300	6503	SO:0001583	missense				CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867	3849	3849		-, Intermediate filaments type II, keratins (basic)	6439	protein-coding gene	gene with protein product	epidermal ichthyosis bullosa of Siemens	600194	keratin 2A (epidermal ichthyosis bullosa of Siemens)	KRT2A	NA	7524919, 16831889	Standard	NM_000423	NM_000423	NA	Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.752A>C	12.37:g.53044171T>G	ENSP00000310861:p.Asn251Thr	NA	Q4VAQ2	37	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	T	33	5.211168	0.95069	.	.	ENSG00000172867	ENST00000309680	D	0.88124	-2.34	5.19	4.05	0.47172	Filament (1);	.	.	.	.	D	0.89054	0.6606	L	0.54323	1.7	0.29659	N	0.843393	P	0.46064	0.872	P	0.53988	0.739	D	0.84714	0.0736	9	0.72032	D	0.01	.	11.0304	0.47769	0.0:0.0735:0.0:0.9265	.	251	P35908	K22E_HUMAN	T	251	ENSP00000310861:N251T	ENSP00000310861:N251T	N	-	2	0	KRT2	51330438	1.000000	0.71417	0.009000	0.14445	0.905000	0.53344	6.096000	0.71446	0.943000	0.37553	0.528000	0.53228	AAT	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405704.1		-	ENST00000309680.3	Missense_Mutation	SNP	12 : 53044171 - 53044171 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1234	237
CHAF1B	8208	broad.mit.edu	37	21	37781761	37781761	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37781761C>T	ENST00000314103.5	+	10	1068	c.917C>T	c.(916-918)aCa>aTa	p.T306I		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	NA					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						GTGGTGGAAACAGGTATCCTC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													183	168	173			NA	NA	21		NA											NA				37781761		2203	4300	6503	SO:0001583	missense			U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259	8208	8208		WD repeat domain containing	1911	protein-coding gene	gene with protein product	M-phase phosphoprotein 7, Chromatin assembly factor I, p60 subunit, human chromatin assembly factor-I p60 subunit	601245			NA	7600578, 8792829	Standard	NM_005441	NM_005441	NA	Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.917C>T	21.37:g.37781761C>T	ENSP00000315700:p.Thr306Ile	NA	Q99548	37	CCDS13644.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962404	0.34659	.	.	ENSG00000159259	ENST00000314103	T	0.55052	0.54	4.13	4.13	0.48395	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.771278	0.12913	N	0.428808	T	0.47563	0.1452	L	0.58101	1.795	0.80722	D	1	B	0.25955	0.138	B	0.18263	0.021	T	0.48864	-0.8997	10	0.48119	T	0.1	-1.1091	10.2473	0.43350	0.3458:0.6542:0.0:0.0	.	306	Q13112	CAF1B_HUMAN	I	306	ENSP00000315700:T306I	ENSP00000315700:T306I	T	+	2	0	CHAF1B	36703631	0.954000	0.32549	0.960000	0.40013	0.910000	0.53928	2.047000	0.41269	2.283000	0.76528	0.563000	0.77884	ACA	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000194616.2		+	ENST00000314103.5	Missense_Mutation	SNP	21 : 37781761 - 37781761 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1056	240
FOXB2	442425	broad.mit.edu	37	9	79634736	79634736	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79634736C>T	ENST00000376708.1	+	1	166	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	56					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue 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			breast(1)|lung(8)|ovary(1)	10						GCACACACAGCGCTGGCAGAA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	69	72			NA	NA	9		NA											NA				79634736		2203	4300	6503	SO:0001583	missense				CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612	442425	442425		Forkhead boxes	23315	protein-coding gene	gene with protein product					NA		Standard	NM_001013735	NM_001013735	NA	Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.166C>T	9.37:g.79634736C>T	ENSP00000365898:p.Arg56Cys	NA		37	CCDS35045.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842987	0.51057	.	.	ENSG00000204612	ENST00000376708	D	0.95588	-3.75	4.3	4.3	0.51218	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.97785	0.9273	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98304	1.0520	10	0.87932	D	0	.	11.926	0.52819	0.1742:0.8258:0.0:0.0	.	56	Q5VYV0	FOXB2_HUMAN	C	56	ENSP00000365898:R56C	ENSP00000365898:R56C	R	+	1	0	FOXB2	78824556	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.316000	0.33620	2.104000	0.64026	0.561000	0.74099	CGC	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052745.1		+	ENST00000376708.1	Missense_Mutation	SNP	9 : 79634736 - 79634736 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	321	54
ITPR2	3709	broad.mit.edu	37	12	26809444	26809444	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:26809444G>A	ENST00000381340.3	-	19	2646	c.2230C>T	c.(2230-2232)Cgc>Tgc	p.R744C		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	744					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AGATACTGGCGATCCAAGCAC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	70	69			NA	NA	12		NA											NA				26809444		1998	4176	6174	SO:0001583	missense			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104	3709	3709		Ion channels / Inositol triphosphate receptors	6181	protein-coding gene	gene with protein product	cilia and flagella associated protein 48	600144	inositol 1,4,5-triphosphate receptor, type 2		NA	8081734	Standard	NM_002223	XM_006719064	NA	Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.2230C>T	12.37:g.26809444G>A	ENSP00000370744:p.Arg744Cys	NA	O94773	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452183	0.84209	.	.	ENSG00000123104	ENST00000381340	D	0.95690	-3.78	4.62	3.66	0.41972	.	0.000000	0.85682	D	0.000000	D	0.97704	0.9247	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97990	1.0354	10	0.87932	D	0	.	14.7522	0.69533	0.0:0.0:0.8553:0.1447	.	744	Q14571	ITPR2_HUMAN	C	744	ENSP00000370744:R744C	ENSP00000370744:R744C	R	-	1	0	ITPR2	26700711	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.350000	0.73017	2.546000	0.85860	0.655000	0.94253	CGC	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402732.1		-	ENST00000381340.3	Missense_Mutation	SNP	12 : 26809444 - 26809444 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	305	24
POLD1	5424	broad.mit.edu	37	19	50905960	50905960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50905960G>A	ENST00000440232.2	+	8	985	c.932G>A	c.(931-933)cGc>cAc	p.R311H	POLD1_ENST00000595904.1_Missense_Mutation_p.R311H|POLD1_ENST00000599857.1_Missense_Mutation_p.R311H	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	311					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GCGCCCTTGCGCGTGCTCAGC	0.672		NA						DNA polymerases (catalytic subunits)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	26	26			NA	NA	19		NA											NA				50905960		2202	4297	6499	SO:0001583	missense				CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822	5424	5424		DNA polymerases	9175	protein-coding gene	gene with protein product	CDC2 homolog (S. cerevisiae)	174761	polymerase (DNA directed), delta 1, catalytic subunit (125kD)	POLD	NA	1722322	Standard		NM_001256849	NA	Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.932G>A	19.37:g.50905960G>A	ENSP00000406046:p.Arg311His	NA	Q8NER3|Q96H98	37	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679948	0.68042	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.12672	2.66	4.69	2.32	0.28847	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.068072	0.64402	D	0.000019	T	0.34135	0.0887	M	0.70275	2.135	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	T	0.28170	-1.0052	10	0.87932	D	0	-11.8143	13.4259	0.61026	0.0:0.3003:0.6997:0.0	.	311;311	E7EVW0;P28340	.;DPOD1_HUMAN	H	311;312	ENSP00000406046:R311H	ENSP00000366129:R312H	R	+	2	0	POLD1	55597772	1.000000	0.71417	0.976000	0.42696	0.203000	0.24098	5.595000	0.67563	1.084000	0.41184	0.491000	0.48974	CGC	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464732.1		+	ENST00000440232.2	Missense_Mutation	SNP	19 : 50905960 - 50905960 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	130	14
OBSCN	84033	broad.mit.edu	37	1	228471427	228471427	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228471427C>T	ENST00000570156.2	+	38	10322	c.10248C>T	c.(10246-10248)tgC>tgT	p.C3416C	OBSCN_ENST00000284548.11_Silent_p.C2987C|OBSCN_ENST00000366709.4_Silent_p.C106C|OBSCN_ENST00000422127.1_Silent_p.C2987C|OBSCN_ENST00000359599.6_Silent_p.C1834C|OBSCN_ENST00000366707.4_Silent_p.C106C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2451	Ig-like 34.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.C3270C(1)|p.C3041C(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCTATACCTGCGACATTGGCC	0.647		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)											47	54	51			NA	NA	1		NA											NA				228471427		2071	4203	6274	SO:0001819	synonymous_variant			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358	84033	84033		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	15719	protein-coding gene	gene with protein product		608616			NA	11448995, 11814696	Standard	NM_052843	NM_001098623	NA	Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000570156.2:c.10248C>T	1.37:g.228471427C>T		NA	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	37	CCDS59204.1																																																																																			OBSCN-011	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421354.3		+	ENST00000570156.2	Silent	SNP	1 : 228471427 - 228471427 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	464	102
SLC17A1	6568	broad.mit.edu	37	6	25811866	25811866	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25811866C>A	ENST00000244527.4	-	9	1145	c.1030G>T	c.(1030-1032)Gga>Tga	p.G344*	SLC17A1_ENST00000468082.1_Splice_Site_p.G290*|SLC17A1_ENST00000427328.1_Splice_Site_p.G290*|SLC17A1_ENST00000476801.1_Splice_Site_p.G344*	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	344					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						TGTTGCTTACCTGCTGCTGTG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	84	87			NA	NA	6		NA											NA				25811866		2203	4300	6503	SO:0001630	splice_region_variant				CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568	6568	6568		Solute carriers	10929	protein-coding gene	gene with protein product		182308	solute carrier family 17 (sodium phosphate), member 1	NPT1	NA	8288239	Standard		NM_005074	NA	Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.1030+1G>T	6.37:g.25811866C>A		NA	A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	37	CCDS4565.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242864	0.58995	.	.	ENSG00000124568	ENST00000244527;ENST00000427328;ENST00000476801;ENST00000468082	.	.	.	3.48	3.48	0.39840	.	0.000000	0.44097	D	0.000493	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7785	0.46363	0.0:1.0:0.0:0.0	.	.	.	.	X	344;290;344;290	.	.	G	-	1	0	SLC17A1	25919845	0.996000	0.38824	0.975000	0.42487	0.106000	0.19336	4.214000	0.58527	2.248000	0.74166	0.650000	0.86243	GGA	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043647.2	Nonsense_Mutation	-	ENST00000244527.4	Splice_Site	SNP	6 : 25811866 - 25811866 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	396	65
PPIP5K1	9677	broad.mit.edu	37	15	43873540	43873540	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43873540G>T	ENST00000360135.4	-	9	949	c.824C>A	c.(823-825)tCt>tAt	p.S275Y	PPIP5K1_ENST00000381879.4_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000432870.3_5'UTR|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000420765.1_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.S275Y	NM_001190214.1	NP_001177143.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	275					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						CAAAGCTGGAGATTTTCTAGC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			AF502586	CCDS32215.1, CCDS45252.1, CCDS53937.1	15q15.3	2010-01-27	2010-01-26	2010-01-26	ENSG00000168781	ENSG00000168781	9677	9677	2.7.4.24		29023	protein-coding gene	gene with protein product		610979	histidine acid phosphatase domain containing 2A	HISPPD2A	NA	17412958, 17690096, 18981179	Standard	NM_014659	NM_001190214	NA	Approved	KIAA0377, IPS1, VIP1	uc001zrw.3	Q6PFW1	OTTHUMG00000059758	ENST00000360135.4:c.824C>A	15.37:g.43873540G>T	ENSP00000353253:p.Ser275Tyr	NA	O15082|Q5HYF8|Q7Z3A7|Q86TE7|Q86UV3|Q86UV4|Q86XW8|Q8IZN0	37	CCDS53937.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216593	0.79352	.	.	ENSG00000168781	ENST00000381885;ENST00000360301;ENST00000360135;ENST00000334933;ENST00000396923;ENST00000304953;ENST00000381878;ENST00000420765;ENST00000381879;ENST00000348806;ENST00000335092	T;T;T;T;T;T;T;T	0.52295	0.68;0.72;1.33;0.72;0.67;0.67;0.68;1.33	4.74	4.74	0.60224	.	0.059970	0.64402	D	0.000002	T	0.77322	0.4113	M	0.93720	3.45	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.84384	0.0551	10	0.87932	D	0	-13.8522	17.9907	0.89168	0.0:0.0:1.0:0.0	.	275;275;275;275	Q6PFW1-7;Q6PFW1;Q6PFW1-2;Q6PFW1-3	.;VIP1_HUMAN;.;.	Y	275;275;275;275;275;275;275;275;275;275;276	ENSP00000371309:S275Y;ENSP00000353446:S275Y;ENSP00000353253:S275Y;ENSP00000334779:S275Y;ENSP00000380129:S275Y;ENSP00000400887:S275Y;ENSP00000371303:S275Y;ENSP00000308773:S275Y	ENSP00000304750:S275Y	S	-	2	0	PPIP5K1	41660832	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.638000	0.98445	2.444000	0.82710	0.644000	0.83932	TCT	PPIP5K1-004	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132909.1		-	ENST00000360135.4	Missense_Mutation	SNP	15 : 43873540 - 43873540 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	440	87
ZNF532	55205	broad.mit.edu	37	18	56615358	56615358	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56615358G>A	ENST00000336078.4	+	7	3541	c.2765G>A	c.(2764-2766)cGc>cAc	p.R922H	ZNF532_ENST00000591083.1_Missense_Mutation_p.R922H|ZNF532_ENST00000589288.1_Missense_Mutation_p.R922H|ZNF532_ENST00000591808.1_Missense_Mutation_p.R922H|ZNF532_ENST00000591230.1_Missense_Mutation_p.R922H	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	922					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TTGCTGTATCGCCACTTTGAC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	119	120			NA	NA	18		NA											NA				56615358		2203	4297	6500	SO:0001583	missense			AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657	55205	55205		Zinc fingers, C2H2-type	30940	protein-coding gene	gene with protein product					NA	10997877	Standard	NM_018181	XM_005266723	NA	Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.2765G>A	18.37:g.56615358G>A	ENSP00000338217:p.Arg922His	NA	Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	37	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883244	0.91740	.	.	ENSG00000074657	ENST00000336078	T	0.30981	1.51	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.294510	0.35262	N	0.003333	T	0.40448	0.1117	L	0.60067	1.865	0.34671	D	0.723747	D;D	0.67145	0.991;0.996	P;P	0.48270	0.511;0.572	T	0.49322	-0.8952	10	0.36615	T	0.2	-16.9644	18.7313	0.91736	0.0:0.0:1.0:0.0	.	922;922	B3KXW2;Q9HCE3	.;ZN532_HUMAN	H	922	ENSP00000338217:R922H	ENSP00000338217:R922H	R	+	2	0	ZNF532	54766338	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.906000	0.75719	2.783000	0.95769	0.655000	0.94253	CGC	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256130.1		+	ENST00000336078.4	Missense_Mutation	SNP	18 : 56615358 - 56615358 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	930	142
NR1I2	8856	broad.mit.edu	37	3	119536008	119536008	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119536008C>T	ENST00000393716.2	+	9	3093	c.1254C>T	c.(1252-1254)caC>caT	p.H418H	NR1I2_ENST00000337940.4_Silent_p.H457H|NR1I2_ENST00000466380.1_Silent_p.H381H	NM_003889.3	NP_003880	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	418	Ligand-binding.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	AGGACATACACCCCTTTGCTA	0.602		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	3		NA											NA				119536008		2203	4300	6503	SO:0001819	synonymous_variant			AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852	8856	8856		Nuclear hormone receptors	7968	protein-coding gene	gene with protein product	pregnane X receptor, orphan nuclear receptor PXR	603065			NA	9727070, 9770465	Standard		NM_003889	NA	Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000393716.2:c.1254C>T	3.37:g.119536008C>T		NA	Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	37	CCDS43136.1																																																																																			NR1I2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355127.1		+	ENST00000393716.2	Silent	SNP	3 : 119536008 - 119536008 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	516	69
CDH22	64405	broad.mit.edu	37	20	44845469	44845469	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44845469C>T	ENST00000372262.3	-	4	1234	c.834G>A	c.(832-834)ccG>ccA	p.P278P	CDH22_ENST00000537909.1_Silent_p.P278P|CDH22_ENST00000474438.1_5'UTR	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	278	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				ACTCACTCTGCGGGAAACGGG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	82	84			NA	NA	20		NA											NA				44845469		2203	4300	6503	SO:0001819	synonymous_variant			AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654	64405	64405		Cadherins / Major cadherins	13251	protein-coding gene	gene with protein product		609920	cadherin-like 22	C20orf25	NA	8626716	Standard	NM_021248	NM_021248	NA	Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.834G>A	20.37:g.44845469C>T		NA	B9EGK7|O43205	37	CCDS13395.1																																																																																			CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080491.1		-	ENST00000372262.3	Silent	SNP	20 : 44845469 - 44845469 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	523	87
MMP14	4323	broad.mit.edu	37	14	23306078	23306078	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23306078C>T	ENST00000311852.6	+	1	313	c.52C>T	c.(52-54)Ctc>Ttc	p.L18F	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	18						extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		CCTGCTCACGCTCGGCACCGC	0.731		NA									OREG0022586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	24	26			NA	NA	14		NA											NA				23306078		2203	4298	6501	SO:0001583	missense				CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227	4323	4323			7160	protein-coding gene	gene with protein product	membrane type 1 metalloprotease	600754	matrix metalloproteinase 14 (membrane-inserted)		NA	8015608	Standard	NM_004995	NM_004995	NA	Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.52C>T	14.37:g.23306078C>T	ENSP00000308208:p.Leu18Phe	762	A8K5L0|Q6GSF3|Q92678	37	CCDS9577.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378692	0.42207	.	.	ENSG00000157227	ENST00000311852;ENST00000547279	T;T	0.63417	2.34;-0.04	4.55	4.55	0.56014	.	2.767510	0.01059	N	0.004607	T	0.60483	0.2272	N	0.08118	0	0.33990	D	0.649053	D	0.58970	0.984	P	0.59595	0.86	T	0.59511	-0.7441	10	0.09590	T	0.72	.	13.0028	0.58685	0.0:1.0:0.0:0.0	.	18	P50281	MMP14_HUMAN	F	18	ENSP00000308208:L18F;ENSP00000450323:L18F	ENSP00000308208:L18F	L	+	1	0	MMP14	22375918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.020000	0.49643	2.524000	0.85096	0.655000	0.94253	CTC	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071660.3		+	ENST00000311852.6	Missense_Mutation	SNP	14 : 23306078 - 23306078 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	260	28
GNE	10020	broad.mit.edu	37	9	36218206	36218206	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36218206G>A	ENST00000539208.1	-	9	1714	c.1577C>T	c.(1576-1578)gCg>gTg	p.A526V	GNE_ENST00000543356.2_Missense_Mutation_p.A631V|GNE_ENST00000447283.2_Missense_Mutation_p.A562V|GNE_ENST00000539815.1_Missense_Mutation_p.A636V|GNE_ENST00000396594.3_Missense_Mutation_p.A667V|GNE_ENST00000377902.5_Missense_Mutation_p.A636V	NM_001190384.1	NP_001177313.1	Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	636	N-acetylmannosamine kinase.				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			CTGGGCCTTCGCATTGCCAAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(184;106 2118 20004 35750 50727)							NA				0													179	154	162			NA	NA	9		NA											NA				36218206		2203	4300	6503	SO:0001583	missense			AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921	10020	10020			23657	protein-coding gene	gene with protein product		603824	UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase	IBM2	NA	9305887, 9305888	Standard	NM_005476	NM_005476	NA	Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539208.1:c.1577C>T	9.37:g.36218206G>A	ENSP00000445117:p.Ala526Val	NA	A6PZH2|A6PZH3|B2R6E1|D3DRP7|Q0VA94	37	CCDS55308.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.451269	0.26074	.	.	ENSG00000159921	ENST00000377902;ENST00000396594;ENST00000339267;ENST00000539815;ENST00000543356;ENST00000539208;ENST00000447283	D;D;D;D;D	0.99607	-4.8;-4.8;-4.8;-4.8;-6.27	5.58	1.28	0.21552	.	0.439248	0.28442	N	0.015329	D	0.97312	0.9121	N	0.24115	0.695	0.09310	N	1	B;B;B;B;B	0.12013	0.005;0.001;0.001;0.0;0.001	B;B;B;B;B	0.11329	0.006;0.001;0.001;0.0;0.0	D	0.94247	0.7490	10	0.27785	T	0.31	-8.3537	8.5766	0.33603	0.3503:0.0:0.6497:0.0	.	526;595;667;636;562	F5H499;Q9Y223-3;Q9Y223-2;Q9Y223;A7UNU7	.;.;.;GLCNE_HUMAN;.	V	636;667;631;636;608;526;562	ENSP00000367134:A636V;ENSP00000379839:A667V;ENSP00000439155:A636V;ENSP00000445117:A526V;ENSP00000414760:A562V	ENSP00000340770:A631V	A	-	2	0	GNE	36208206	0.000000	0.05858	0.003000	0.11579	0.960000	0.62799	0.396000	0.20867	-0.048000	0.13401	0.561000	0.74099	GCG	GNE-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052413.2		-	ENST00000539208.1	Missense_Mutation	SNP	9 : 36218206 - 36218206 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1042	213
TTC16	158248	broad.mit.edu	37	9	130479252	130479252	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130479252C>A	ENST00000373289.3	+	2	228	c.148C>A	c.(148-150)Cca>Aca	p.P50T	PTRH1_ENST00000429848.1_Intron|PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000393748.4_Intron	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	50							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TGATGTAAAACCAAAGGTCAC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	109	114			NA	NA	9		NA											NA				130479252		2203	4300	6503	SO:0001583	missense			AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094	158248	158248		Tetratricopeptide (TTC) repeat domain containing	26536	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_144965	NM_144965	NA	Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.148C>A	9.37:g.130479252C>A	ENSP00000362386:p.Pro50Thr	NA	Q5JU66|Q96M72	37	CCDS6875.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.880479	0.33255	.	.	ENSG00000167094	ENST00000373289	T	0.16324	2.35	3.8	1.89	0.25635	.	0.956369	0.08540	N	0.930685	T	0.24851	0.0603	L	0.32530	0.975	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.66084	0.941;0.922	T	0.19712	-1.0297	10	0.35671	T	0.21	-0.42	5.2921	0.15733	0.0:0.6748:0.2087:0.1165	.	50;50	B4DZ42;Q8NEE8	.;TTC16_HUMAN	T	50	ENSP00000362386:P50T	ENSP00000362386:P50T	P	+	1	0	TTC16	129519073	0.033000	0.19621	0.001000	0.08648	0.001000	0.01503	0.491000	0.22419	0.384000	0.24942	-0.502000	0.04539	CCA	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054224.1		+	ENST00000373289.3	Missense_Mutation	SNP	9 : 130479252 - 130479252 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	305	60
KLF14	136259	broad.mit.edu	37	7	130418143	130418143	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130418143C>T	ENST00000310992.4	-	1	745	c.718G>A	c.(718-720)Gac>Aac	p.D240N		NM_138693.2	NP_619638.2	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					GCCAGCTCGTCGGAACGCGTA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	34	35			NA	NA	7		NA											NA				130418143		2202	4299	6501	SO:0001583	missense			AF490374	CCDS5825.1	7q32.3	2014-05-06			ENSG00000174595	ENSG00000266265	136259	136259		Kruppel-like transcription factors, Zinc fingers, C2H2-type	23025	protein-coding gene	gene with protein product		609393			NA	17480121	Standard	NM_138693	NM_138693	NA	Approved	BTEB5	uc003vqk.2	Q8TD94	OTTHUMG00000188298	ENST00000310992.4:c.718G>A	7.37:g.130418143C>T	ENSP00000310878:p.Asp240Asn	NA	Q19A42|Q19A43	37	CCDS5825.1	.	.	.	.	.	.	.	.	.	.	C	33	5.269922	0.95429	.	.	ENSG00000174595	ENST00000310992	T	0.26067	1.76	4.41	4.41	0.53225	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35013	N	0.003517	T	0.34135	0.0887	N	0.14661	0.345	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.36529	-0.9744	10	0.87932	D	0	.	15.3231	0.74139	0.0:1.0:0.0:0.0	.	240	Q8TD94	KLF14_HUMAN	N	240	ENSP00000310878:D240N	ENSP00000310878:D240N	D	-	1	0	KLF14	130068683	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.619000	0.83057	2.374000	0.81015	0.561000	0.74099	GAC	KLF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000338013.1		-	ENST00000310992.4	Missense_Mutation	SNP	7 : 130418143 - 130418143 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	107	15
KIAA1328	57536	broad.mit.edu	37	18	34802046	34802046	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34802046C>T	ENST00000591619.1	+	10	2364	c.1578C>T	c.(1576-1578)cgC>cgT	p.R526R	KIAA1328_ENST00000280020.5_Silent_p.R530R|KIAA1328_ENST00000543923.1_Silent_p.R422R|KIAA1328_ENST00000586135.1_3'UTR			Q86T90	K1328_HUMAN	KIAA1328	530										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		AACCTCAGCGCTATCCCTCCA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	58	59			NA	NA	18		NA											NA				34802046		1870	4103	5973	SO:0001819	synonymous_variant			AB037749	CCDS45855.1	18q12.2	2011-12-12			ENSG00000150477	ENSG00000150477	57536	57536			29248	protein-coding gene	gene with protein product					NA	10718198	Standard	NM_020776	XM_005258317	NA	Approved		uc002kzz.3	Q86T90		ENST00000591619.1:c.1578C>T	18.37:g.34802046C>T		NA	Q05DL0|Q49AG6|Q9P2L8	37																																																																																				KIAA1328-005	KNOWN	NMD_exception|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000440459.1		+	ENST00000591619.1	Silent	SNP	18 : 34802046 - 34802046 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	167	24
USP14	9097	broad.mit.edu	37	18	163369	163369	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:163369A>G	ENST00000261601.7	+	2	169	c.78A>G	c.(76-78)ccA>ccG	p.P26P	USP14_ENST00000400266.3_Silent_p.P26P|USP14_ENST00000582707.1_Silent_p.P26P|USP14_ENST00000383589.2_Silent_p.P26P	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	NA	Ubiquitin-like.				regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				ATGAACCTCCAATGGTATTCA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	68	68			NA	NA	18		NA											NA				163369		2203	4300	6503	SO:0001819	synonymous_variant			U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557	9097	9097		Ubiquitin-specific peptidases	12612	protein-coding gene	gene with protein product		607274	ubiquitin specific protease 14 (tRNA-guanine transglycosylase)		NA	12838346	Standard	NM_005151	NM_001037334	NA	Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.78A>G	18.37:g.163369A>G		NA	Q53XY5	37	CCDS32780.1																																																																																			USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000440305.3		+	ENST00000261601.7	Silent	SNP	18 : 163369 - 163369 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	250	53
WEE2	494551	broad.mit.edu	37	7	141430103	141430103	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141430103C>T	ENST00000397541.2	+	12	2093	c.1687C>T	c.(1687-1689)Cgt>Tgt	p.R563C	WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000486906.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	563					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	p.R563C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					AGCAGGAGAGCGTGAGCCTCT	0.418		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)						C	CYS/ARG	1,3759		0,1,1879	126	115	119		1687	3.7	0.1	7		119	0,8230		0,0,4115	no	missense	WEE2	NM_001105558.1	180	0,1,5994	TT,TC,CC	NA	0.0,0.0266,0.0083	benign	563/568	141430103	1,11989	1880	4115	5995	SO:0001583	missense			AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102	494551	494551			19684	protein-coding gene	gene with protein product		614084			NA		Standard	NM_001105558	NM_001105558	NA	Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.1687C>T	7.37:g.141430103C>T	ENSP00000380675:p.Arg563Cys	NA		37	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.397862	0.25205	2.66E-4	0.0	ENSG00000214102	ENST00000397541	T	0.57595	0.39	4.59	3.71	0.42584	.	0.700724	0.12953	U	0.425718	T	0.28599	0.0708	N	0.08118	0	0.09310	N	1	P	0.40931	0.733	B	0.33799	0.17	T	0.06716	-1.0811	10	0.54805	T	0.06	.	8.663	0.34103	0.0:0.8958:0.0:0.1042	.	563	P0C1S8	WEE2_HUMAN	C	563	ENSP00000380675:R563C	ENSP00000380675:R563C	R	+	1	0	WEE2	141076572	0.000000	0.05858	0.061000	0.19648	0.016000	0.09150	-0.330000	0.07925	1.280000	0.44463	0.655000	0.94253	CGT	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349091.1		+	ENST00000397541.2	Missense_Mutation	SNP	7 : 141430103 - 141430103 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	281	62
PRRC2C	23215	broad.mit.edu	37	1	171548988	171548988	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171548988C>T	ENST00000367742.3	+	28	7536	c.7294C>T	c.(7294-7296)Cca>Tca	p.P2432S	PRRC2C_ENST00000392078.3_Missense_Mutation_p.P2432S|PRRC2C_ENST00000426496.2_Missense_Mutation_p.P2365S|PRRC2C_ENST00000338920.4_Missense_Mutation_p.P2430S			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2430	Gln-rich.						protein C-terminus binding				NA						TCAGCAGATTCCAATCCCTAT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	103	105			NA	NA	1		NA											NA				171548988		2203	4300	6503	SO:0001583	missense			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523	23215	23215			24903	protein-coding gene	gene with protein product			BAT2 domain containing 1, HLA-B associated transcript 2-like 2	BAT2D1, BAT2L2	NA	10470851, 12443540	Standard	NM_015172	NM_015172	NA	Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000367742.3:c.7294C>T	1.37:g.171548988C>T	ENSP00000356716:p.Pro2432Ser	NA	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	37		.	.	.	.	.	.	.	.	.	.	C	18.49	3.634739	0.67130	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	T;T;T;T	0.03889	3.77;3.81;3.8;3.8	5.26	5.26	0.73747	.	0.000000	0.44902	D	0.000420	T	0.13415	0.0325	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01899	-1.1251	10	0.44086	T	0.13	.	18.8668	0.92294	0.0:1.0:0.0:0.0	.	2430	Q9Y520-4	.	S	2432;2384;2365;2432;2430;2187	ENSP00000375928:P2432S;ENSP00000410219:P2365S;ENSP00000356716:P2432S;ENSP00000343629:P2430S	ENSP00000343629:P2430S	P	+	1	0	PRRC2C	169815612	1.000000	0.71417	0.980000	0.43619	0.974000	0.67602	7.356000	0.79445	2.466000	0.83321	0.313000	0.20887	CCA	PRRC2C-001	NOVEL	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000083864.4		+	ENST00000367742.3	Missense_Mutation	SNP	1 : 171548988 - 171548988 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	297	74
MUC2	4583	broad.mit.edu	37	11	1092185	1092185	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1092185A>G	ENST00000441003.2	+	30	4031	c.4004A>G	c.(4003-4005)gAc>gGc	p.D1335G	MUC2_ENST00000361558.6_Missense_Mutation_p.D1G|MUC2_ENST00000359061.5_Missense_Mutation_p.D1336G	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1335						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCCCCTGAGGACATCGAGTGC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	97	95			NA	NA	11		NA											NA				1092185		2127	4225	6352	SO:0001583	missense			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788	4583	4583		Mucins	7512	protein-coding gene	gene with protein product		158370	mucin 2, intestinal/tracheal		NA	15081123	Standard	NM_002457	NM_002457	NA	Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4004A>G	11.37:g.1092185A>G	ENSP00000415183:p.Asp1335Gly	NA	Q14878	37		.	.	.	.	.	.	.	.	.	.	a	10.11	1.261494	0.23051	.	.	ENSG00000198788	ENST00000441003;ENST00000359061;ENST00000361558	T;T;T	0.18960	2.4;2.18;2.18	3.03	0.12	0.14691	.	37.455900	0.00839	U	0.001722	T	0.18215	0.0437	L	0.31420	0.93	0.09310	N	1	B	0.28584	0.216	B	0.32289	0.143	T	0.26710	-1.0095	10	0.19147	T	0.46	.	9.2973	0.37824	0.6552:0.3447:0.0:0.0	.	1335	E7EUV1	.	G	1335;1336;1	ENSP00000415183:D1335G;ENSP00000351956:D1336G;ENSP00000354885:D1G	ENSP00000351956:D1336G	D	+	2	0	MUC2	1082185	0.756000	0.28383	0.004000	0.12327	0.108000	0.19459	4.169000	0.58223	0.249000	0.21456	0.382000	0.24955	GAC	MUC2-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000345894.2		+	ENST00000441003.2	Missense_Mutation	SNP	11 : 1092185 - 1092185 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	168	26
QPCTL	54814	broad.mit.edu	37	19	46201906	46201906	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46201906G>A	ENST00000012049.5	+	4	956	c.735G>A	c.(733-735)caG>caA	p.Q245Q	QPCTL_ENST00000366382.4_Silent_p.Q151Q	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	245					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		ACCTGGCCCAGCTCATGGAGT	0.622		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	19		NA											NA				46201906		2203	4300	6503	SO:0001819	synonymous_variant			AK000091	CCDS12672.1, CCDS54282.1	19q13.32	2014-09-04			ENSG00000011478	ENSG00000011478	54814	54814			25952	protein-coding gene	gene with protein product	glutaminyl cyclase-like				NA		Standard	NM_017659	NM_017659	NA	Approved	FLJ20084	uc010xxr.2	Q9NXS2	OTTHUMG00000182131	ENST00000012049.5:c.735G>A	19.37:g.46201906G>A		NA	Q53HE4|Q96F74	37	CCDS12672.1																																																																																			QPCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459656.1		+	ENST00000012049.5	Silent	SNP	19 : 46201906 - 46201906 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	291	49
UBR5	51366	broad.mit.edu	37	8	103307906	103307906	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103307906C>T	ENST00000521922.1	-	29	4276	c.3752G>A	c.(3751-3753)cGc>cAc	p.R1251H	UBR5_ENST00000220959.4_Missense_Mutation_p.R1257H|UBR5_ENST00000520539.1_Missense_Mutation_p.R1257H			O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1257					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AGTGAGCAGGCGATAAAGTAG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(131;96 1741 5634 7352 27489)							NA				0													124	115	118			NA	NA	8		NA											NA				103307906		2203	4300	6503	SO:0001583	missense			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517	51366	51366		Ubiquitin protein ligase E3 component n-recognins	16806	protein-coding gene	gene with protein product		608413	E3 ubiquitin protein ligase, HECT domain containing, 1	EDD1	NA	10030672, 16055722	Standard	NM_015902	NM_015902	NA	Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000521922.1:c.3752G>A	8.37:g.103307906C>T	ENSP00000427819:p.Arg1251His	NA	B2RP24|O94970|Q9NPL3	37		.	.	.	.	.	.	.	.	.	.	C	28.0	4.883557	0.91740	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.49139	0.79;0.79;0.79	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.60766	0.2294	L	0.35854	1.095	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.69479	0.964;0.964	T	0.60383	-0.7274	10	0.52906	T	0.07	.	19.5549	0.95342	0.0:1.0:0.0:0.0	.	1251;1257	E7EMW7;O95071	.;UBR5_HUMAN	H	1257;1257;1251	ENSP00000429084:R1257H;ENSP00000220959:R1257H;ENSP00000427819:R1251H	ENSP00000220959:R1257H	R	-	2	0	UBR5	103377082	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.506000	0.81665	2.685000	0.91497	0.585000	0.79938	CGC	UBR5-003	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000380199.1		-	ENST00000521922.1	Missense_Mutation	SNP	8 : 103307906 - 103307906 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	232	11
ANPEP	290	broad.mit.edu	37	15	90346982	90346982	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90346982C>T	ENST00000300060.6	-	8	1646	c.1333G>A	c.(1333-1335)Gca>Aca	p.A445T		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	445	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GCATCCACTGCCATCACGCGG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(30;827 977 2459 19669 26125)							NA				0													95	98	97			NA	NA	15		NA											NA				90346982		2200	4299	6499	SO:0001583	missense			M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	290	290	3.4.11.2	CD molecules	500	protein-coding gene	gene with protein product	aminopeptidase N, aminopeptidase M, microsomal aminopeptidase	151530		CD13, PEPN	NA	2428842, 1977688	Standard		NM_001150	NA	Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.1333G>A	15.37:g.90346982C>T	ENSP00000300060:p.Ala445Thr	NA	Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	37	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939934	0.52972	.	.	ENSG00000166825	ENST00000300060	T	0.02787	4.16	4.58	4.58	0.56647	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.054594	0.64402	D	0.000001	T	0.05914	0.0154	L	0.46885	1.475	0.44061	D	0.996802	P	0.43633	0.813	P	0.48952	0.596	T	0.55328	-0.8158	10	0.16420	T	0.52	.	14.8532	0.70313	0.0:1.0:0.0:0.0	.	445	P15144	AMPN_HUMAN	T	445	ENSP00000300060:A445T	ENSP00000300060:A445T	A	-	1	0	ANPEP	88147986	1.000000	0.71417	0.997000	0.53966	0.130000	0.20726	3.163000	0.50763	2.093000	0.63338	0.305000	0.20034	GCA	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313425.1		-	ENST00000300060.6	Missense_Mutation	SNP	15 : 90346982 - 90346982 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	394	45
ZMYND11	10771	broad.mit.edu	37	10	294415	294415	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:294415A>G	ENST00000397962.3	+	13	1795	c.1367A>G	c.(1366-1368)cAg>cGg	p.Q456R	ZMYND11_ENST00000309776.4_Missense_Mutation_p.Q416R|ZMYND11_ENST00000381604.4_Missense_Mutation_p.Q416R|ZMYND11_ENST00000535374.1_Missense_Mutation_p.Q251R|ZMYND11_ENST00000381591.1_Missense_Mutation_p.Q456R|ZMYND11_ENST00000545619.1_Missense_Mutation_p.Q336R|ZMYND11_ENST00000381602.4_Missense_Mutation_p.Q416R|ZMYND11_ENST00000558098.2_Missense_Mutation_p.Q456R|ZMYND11_ENST00000402736.1_Missense_Mutation_p.Q425R|ZMYND11_ENST00000602682.1_Missense_Mutation_p.Q371R|ZMYND11_ENST00000473115.1_3'UTR|ZMYND11_ENST00000381584.1_Missense_Mutation_p.Q439R|ZMYND11_ENST00000403354.1_Missense_Mutation_p.Q376R|ZMYND11_ENST00000381607.4_Missense_Mutation_p.Q362R|ZMYND11_ENST00000397959.3_Missense_Mutation_p.Q371R|ZMYND11_ENST00000509513.2_Missense_Mutation_p.Q455R			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	416	Interaction with human adenovirus E1A.				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CGGAGCACCCAGACCACAAAC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	108	111			NA	NA	10		NA											NA				294415		2203	4300	6503	SO:0001583	missense			X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171	10771	10771		Zinc fingers, MYND-type	16966	protein-coding gene	gene with protein product		608668	zinc finger, MYND domain containing 11		NA	7621829, 10734313	Standard	NM_006624	NM_006624	NA	Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.1367A>G	10.37:g.294415A>G	ENSP00000381053:p.Gln456Arg	NA	B2R6G8|Q5VUI1	37	CCDS7052.2	.	.	.	.	.	.	.	.	.	.	A	26.5	4.745747	0.89663	.	.	ENSG00000015171	ENST00000397962;ENST00000309776;ENST00000381602;ENST00000509513;ENST00000397959;ENST00000381591;ENST00000403354;ENST00000381607;ENST00000402736;ENST00000381604;ENST00000381584;ENST00000545619;ENST00000535374	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.63319	0.2501	L	0.29908	0.895	0.36571	D	0.873003	D;D;P;P;D;P;D;D;P;D	0.59357	0.984;0.984;0.895;0.956;0.984;0.936;0.965;0.985;0.956;0.965	P;P;P;P;P;P;P;P;P;P	0.61201	0.724;0.632;0.452;0.549;0.724;0.885;0.65;0.643;0.549;0.65	T	0.63659	-0.6587	8	0.33940	T	0.23	-31.5843	16.5764	0.84681	1.0:0.0:0.0:0.0	.	416;456;371;401;456;376;385;402;402;425	Q15326;Q2LD45;B7Z293;B7Z2J6;Q2LD48;B0QZE2;B0QZE3;Q2LD46;Q2LD47;E7ENI9	ZMY11_HUMAN;.;.;.;.;.;.;.;.;.	R	456;416;416;456;371;456;376;362;425;416;439;336;251	.	ENSP00000309992:Q416R	Q	+	2	0	ZMYND11	284415	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	9.265000	0.95647	2.371000	0.80710	0.533000	0.62120	CAG	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046382.4		+	ENST00000397962.3	Missense_Mutation	SNP	10 : 294415 - 294415 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	434	62
CNTN5	53942	broad.mit.edu	37	11	99872819	99872819	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:99872819A>G	ENST00000524871.1	+	9	1221	c.931A>G	c.(931-933)Aca>Gca	p.T311A	CNTN5_ENST00000528682.1_Missense_Mutation_p.T311A|CNTN5_ENST00000527185.1_Missense_Mutation_p.T311A|CNTN5_ENST00000418526.2_Missense_Mutation_p.T237A|CNTN5_ENST00000279463.3_Missense_Mutation_p.T311A	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	311	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TTTCACGGTTACAGCTGCTAA	0.338		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	11		NA											NA				99872819		1851	4099	5950	SO:0001583	missense			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972	53942	53942		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	2175	protein-coding gene	gene with protein product		607219			NA		Standard	NM_014361	NM_014361	NA	Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.931A>G	11.37:g.99872819A>G	ENSP00000435637:p.Thr311Ala	NA	A1L4P0|B7ZM07|O94780	37	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.807120	0.50421	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24	5.68	4.56	0.56223	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.106561	0.64402	D	0.000003	T	0.67344	0.2883	L	0.46614	1.455	0.40422	D	0.979856	P;P;P	0.46621	0.722;0.856;0.881	P;P;P	0.53450	0.601;0.466;0.726	T	0.62685	-0.6802	10	0.18276	T	0.48	.	10.7406	0.46152	0.9256:0.0:0.0744:0.0	.	311;237;311	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	A	311;311;311;237;311	ENSP00000433575:T311A;ENSP00000436185:T311A;ENSP00000435637:T311A;ENSP00000393229:T237A;ENSP00000279463:T311A	ENSP00000279463:T311A	T	+	1	0	CNTN5	99378029	1.000000	0.71417	0.991000	0.47740	0.984000	0.73092	5.319000	0.65835	0.989000	0.38761	0.482000	0.46254	ACA	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395148.2		+	ENST00000524871.1	Missense_Mutation	SNP	11 : 99872819 - 99872819 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	86	15
PPAN-P2RY11	692312	broad.mit.edu	37	19	10225276	10225276	+	Silent	SNP	C	C	T	rs143410132		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10225276C>T	ENST00000428358.1	+	0	2481				PPAN_ENST00000556468.1_Silent_p.G749G|PPAN-P2RY11_ENST00000393796.4_Silent_p.G749G|P2RY11_ENST00000321826.4_Silent_p.G329G	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN	PPAN-P2RY11 readthrough	NA					RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CCAGCCTGGGCTGCTGCTGCC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,	1,4405		0,1,2202	40	47	45		2247,,987	-0.1	0.5	19	dbSNP_134	45	0,8596		0,0,4298	no	coding-synonymous,utr-3,coding-synonymous	P2RY11,PPAN-P2RY11	NM_001040664.2,NM_001198690.1,NM_002566.4	,,	0,1,6500	TT,TC,CC	NA	0.0,0.0227,0.0077	,,	749/795,,329/375	10225276	1,13001	2203	4298	6501	SO:0001624	3_prime_UTR_variant			AJ300588	CCDS42498.1, CCDS56082.1	19p13.2	2009-09-17			ENSG00000243207	ENSG00000243207	692312	692312			33526	other	readthrough					NA		Standard	NM_001040664	NM_001040664	NA	Approved		uc002mna.3		OTTHUMG00000150165	ENST00000428358.1:c.*746C>T	19.37:g.10225276C>T		NA	Q9BW97|Q9H170	37	CCDS56082.1																																																																																			PPAN-P2RY11-002	NOVEL	basic|readthrough_transcript|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345524.1		+	ENST00000428358.1	3'UTR	SNP	19 : 10225276 - 10225276 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	414	72
CWC25	54883	broad.mit.edu	37	17	36963202	36963202	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:36963202G>T	ENST00000225428.5	-	7	1015	c.718C>A	c.(718-720)Ctt>Att	p.L240I	CWC25_ENST00000536127.1_Missense_Mutation_p.L177I	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	NA										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						GGACCCTGAAGACCCTGGTTA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	93	94			NA	NA	17		NA											NA				36963202		1914	4129	6043	SO:0001583	missense			AK000298	CCDS45663.1	17q12	2010-01-26	2010-01-26	2010-01-26		ENSG00000273559	54883	54883			25989	protein-coding gene	gene with protein product			coiled-coil domain containing 49	CCDC49	NA	19941820	Standard	NM_017748	NM_017748	NA	Approved	FLJ20291	uc002hqu.4	Q9NXE8		ENST00000225428.5:c.718C>A	17.37:g.36963202G>T	ENSP00000225428:p.Leu240Ile	NA	A0JLM3|Q68DK5	37	CCDS45663.1	.	.	.	.	.	.	.	.	.	.	G	7.200	0.593289	0.13875	.	.	ENSG00000108296	ENST00000225428;ENST00000536127	T;T	0.29655	1.56;1.56	5.27	2.21	0.28008	.	0.579153	0.15532	N	0.257431	T	0.23492	0.0568	L	0.51422	1.61	0.09310	N	1	B;B	0.19583	0.015;0.037	B;B	0.14023	0.01;0.009	T	0.19386	-1.0307	10	0.36615	T	0.2	.	4.5944	0.12322	0.2572:0.1612:0.5816:0.0	.	177;240	B4DJK2;Q9NXE8	.;CWC25_HUMAN	I	240;177	ENSP00000225428:L240I;ENSP00000438566:L177I	ENSP00000225428:L240I	L	-	1	0	CWC25	34216728	0.001000	0.12720	0.000000	0.03702	0.043000	0.13939	0.731000	0.26058	0.373000	0.24621	0.462000	0.41574	CTT	CWC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442186.6		-	ENST00000225428.5	Missense_Mutation	SNP	17 : 36963202 - 36963202 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	432	72
RAI14	26064	broad.mit.edu	37	5	34824489	34824489	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:34824489G>T	ENST00000265109.3	+	15	2829	c.2542G>T	c.(2542-2544)Gaa>Taa	p.E848*	RAI14_ENST00000428746.2_Nonsense_Mutation_p.E848*|RAI14_ENST00000512629.1_Nonsense_Mutation_p.E819*|RAI14_ENST00000506376.1_Nonsense_Mutation_p.E840*|RAI14_ENST00000515799.1_Nonsense_Mutation_p.E851*|RAI14_ENST00000397449.1_Nonsense_Mutation_p.E841*|RAI14_ENST00000503673.1_Nonsense_Mutation_p.E848*	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	848						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CAAAGAGCAAGAAGTAAATGA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	54	53			NA	NA	5		NA											NA				34824489		2202	4300	6502	SO:0001587	stop_gained			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560	26064	26064		Ankyrin repeat domain containing	14873	protein-coding gene	gene with protein product	novel retinal pigment epithelial	606586			NA	11042181	Standard	NM_015577	NM_015577	NA	Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.2542G>T	5.37:g.34824489G>T	ENSP00000265109:p.Glu848*	NA	Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	37	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	G	40	8.201637	0.98704	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-24.9299	19.6676	0.95898	0.0:0.0:1.0:0.0	.	.	.	.	X	848;819;848;848;851;840;841	.	ENSP00000265109:E848X	E	+	1	0	RAI14	34860246	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	8.358000	0.90090	2.658000	0.90341	0.555000	0.69702	GAA	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366786.1		+	ENST00000265109.3	Nonsense_Mutation	SNP	5 : 34824489 - 34824489 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	375	57
CACNA1A	773	broad.mit.edu	37	19	13345818	13345818	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13345818G>A	ENST00000360228.5	-	34	5165	c.5166C>T	c.(5164-5166)gaC>gaT	p.D1722D	CACNA1A_ENST00000574822.1_5'UTR|CACNA1A_ENST00000573710.2_Silent_p.D1723D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1723					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CACTGTCCTCGTCCTCCACGT	0.542		NA									OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,,,,	0,4136		0,0,2068	161	166	164		5184,5169,5166,5175,5184	-10	0.7	19		164	1,8383		0,1,4191	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1A	NM_000068.3,NM_001127221.1,NM_001127222.1,NM_001174080.1,NM_023035.2	,,,,	0,1,6259	AA,AG,GG	NA	0.0119,0.0,0.0080	,,,,	1728/2267,1723/2262,1722/2507,1725/2264,1728/2513	13345818	1,12519	2068	4192	6260	SO:0001819	synonymous_variant			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837	773	773		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP	NA	8825650, 16382099, 23827678	Standard	NM_000068	NM_000068	NA	Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5166C>T	19.37:g.13345818G>A		686	P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9UDC4	37	CCDS45998.1																																																																																			CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000104062.2		-	ENST00000360228.5	Silent	SNP	19 : 13345818 - 13345818 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	748	147
CRNN	49860	broad.mit.edu	37	1	152383288	152383288	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152383288G>A	ENST00000271835.3	-	3	332	c.270C>T	c.(268-270)agC>agT	p.S90S	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	90					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCACTCTCGCTCAGTGTCT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	107	103			NA	NA	1		NA											NA				152383288		2203	4300	6503	SO:0001819	synonymous_variant			AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536	49860	49860		EF-hand domain containing	1230	protein-coding gene	gene with protein product		611312	chromosome 1 open reading frame 10	C1orf10	NA	11056050, 15854041	Standard	NM_016190	NM_016190	NA	Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.270C>T	1.37:g.152383288G>A		NA	B2RE60|Q8N613	37	CCDS1010.1																																																																																			CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034503.1		-	ENST00000271835.3	Silent	SNP	1 : 152383288 - 152383288 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1504	180
C18orf8	29919	broad.mit.edu	37	18	21084355	21084355	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21084355T>C	ENST00000590868.1	+	2	223	c.123T>C	c.(121-123)ggT>ggC	p.G41G	C18orf8_ENST00000269221.3_Silent_p.G41G			Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	41										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TTCGATCTGGTGGAGCTACTG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													217	191	200			NA	NA	18		NA											NA				21084355		2203	4300	6503	SO:0001819	synonymous_variant			AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452	29919	29919			24326	protein-coding gene	gene with protein product	colon cancer associated protein Mic1, macrophage inhibitory cytokine 1				NA	12477932	Standard	NM_013326	NM_013326	NA	Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000590868.1:c.123T>C	18.37:g.21084355T>C		NA	Q9BU17|Q9Y5M0	37																																																																																				C18orf8-004	NOVEL	non_canonical_conserved|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000445389.1		+	ENST00000590868.1	Silent	SNP	18 : 21084355 - 21084355 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	573	123
DGKE	8526	broad.mit.edu	37	17	54939214	54939214	+	Silent	SNP	C	C	T	rs117438162	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54939214C>T	ENST00000284061.3	+	10	1527	c.1347C>T	c.(1345-1347)atC>atT	p.I449I		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	449					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TTCTGAACATCGGATACTGGG	0.458		NA											C	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	4e-04	0.95	EXOME	NA	NA	5e-04	SNP								NA				0													170	171	171			NA	NA	17		NA											NA				54939214		2203	4300	6503	SO:0001819	synonymous_variant			U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	8526	8526	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	diacylglycerol kinase, epsilon (64kD)		NA	8626589, 10051413	Standard	NM_003647	NM_003647	NA	Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.1347C>T	17.37:g.54939214C>T		NA	Q9UKQ3	37	CCDS11590.1																																																																																			DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000440601.1		+	ENST00000284061.3	Silent	SNP	17 : 54939214 - 54939214 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1002	194
IKBKAP	8518	broad.mit.edu	37	9	111653624	111653624	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111653624G>A	ENST00000374647.5	-	28	3326	c.3019C>T	c.(3019-3021)Ctc>Ttc	p.L1007F	IKBKAP_ENST00000537196.1_Missense_Mutation_p.L658F	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	1007					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GCAAACATGAGCCCCGCTGGC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	68	71			NA	NA	9		NA											NA				111653624		2203	4300	6503	SO:0001583	missense			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061	8518	8518		Elongator acetyltransferase complex subunits	5959	protein-coding gene	gene with protein product	elongator acetyltransferase complex subunit 1	603722	dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)	DYS	NA	9751059, 11179008	Standard		NM_003640	NA	Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.3019C>T	9.37:g.111653624G>A	ENSP00000363779:p.Leu1007Phe	NA	Q5JSV2|Q9H327|Q9UG87	37	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191802	0.78902	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.33865	1.79;1.39	5.87	4.96	0.65561	.	0.000000	0.64402	D	0.000001	T	0.52901	0.1763	M	0.63428	1.95	0.47659	D	0.999484	D	0.89917	1.0	D	0.79784	0.993	T	0.50189	-0.8857	10	0.49607	T	0.09	-14.8029	9.4432	0.38681	0.1607:0.0:0.8393:0.0	.	1007	O95163	ELP1_HUMAN	F	1007;658	ENSP00000363779:L1007F;ENSP00000439367:L658F	ENSP00000363779:L1007F	L	-	1	0	IKBKAP	110693445	1.000000	0.71417	0.993000	0.49108	0.859000	0.49053	3.297000	0.51810	2.779000	0.95612	0.591000	0.81541	CTC	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053574.1		-	ENST00000374647.5	Missense_Mutation	SNP	9 : 111653624 - 111653624 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	412	68
ZMAT3	64393	broad.mit.edu	37	3	178748762	178748762	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:178748762C>T	ENST00000311417.2	-	3	1037	c.296G>A	c.(295-297)cGa>cAa	p.R99Q	ZMAT3_ENST00000432729.1_Missense_Mutation_p.R99Q	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	zinc finger, matrin-type 3	99					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			ATAGTAATTTCGGAGTTTCTT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	112	114			NA	NA	3		NA											NA				178748762		2203	4300	6503	SO:0001583	missense			AK122768	CCDS3224.1, CCDS46962.1	3q26.32	2012-10-05	2010-09-15		ENSG00000172667	ENSG00000172667	64393	64393		Zinc fingers, matrin-type	29983	protein-coding gene	gene with protein product		606452			NA	9400996, 11689294	Standard	NM_152240	NM_022470	NA	Approved	WIG1, MGC10613, FLJ12296, WIG-1, PAG608	uc003fjg.3	Q9HA38	OTTHUMG00000157290	ENST00000311417.2:c.296G>A	3.37:g.178748762C>T	ENSP00000311221:p.Arg99Gln	NA	B3KVA6|D3DNR1|Q96A21	37	CCDS3224.1	.	.	.	.	.	.	.	.	.	.	C	36	5.598322	0.96614	.	.	ENSG00000172667	ENST00000311417;ENST00000432729;ENST00000414084	T;T;T	0.47177	0.85;0.85;0.85	5.47	5.47	0.80525	Zinc finger, U1-type (1);	0.000000	0.85682	D	0.000000	T	0.60766	0.2294	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.963;0.988	T	0.62048	-0.6936	10	0.56958	D	0.05	-13.3478	19.3366	0.94322	0.0:1.0:0.0:0.0	.	99;99	Q9HA38-2;Q9HA38	.;ZMAT3_HUMAN	Q	99	ENSP00000311221:R99Q;ENSP00000396506:R99Q;ENSP00000398920:R99Q	ENSP00000311221:R99Q	R	-	2	0	ZMAT3	180231456	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.773000	0.62331	2.551000	0.86045	0.650000	0.86243	CGA	ZMAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348336.2		-	ENST00000311417.2	Missense_Mutation	SNP	3 : 178748762 - 178748762 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	429	66
ELK3	2004	broad.mit.edu	37	12	96641197	96641197	+	Silent	SNP	C	C	T	rs142048091		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:96641197C>T	ENST00000228741.3	+	3	1013	c.687C>T	c.(685-687)aaC>aaT	p.N229N	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	229					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					TGTTGCCAAACGCTGCCAGTA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	70	80	77		687	-6.8	0	12	dbSNP_134	77	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ELK3	NM_005230.2		0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077		229/408	96641197	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			BC017371	CCDS9060.1	12q23	2006-12-30				ENSG00000111145	2004	2004			3325	protein-coding gene	gene with protein product		600247			NA	7851904	Standard	NM_005230	NM_005230	NA	Approved	ERP, NET, SAP2	uc001teo.1	P41970		ENST00000228741.3:c.687C>T	12.37:g.96641197C>T		NA	B2R6S6|Q6FG57|Q6GU29|Q9UD17	37	CCDS9060.1																																																																																			ELK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408694.1		+	ENST00000228741.3	Silent	SNP	12 : 96641197 - 96641197 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	921	140
TDRD5	163589	broad.mit.edu	37	1	179638537	179638537	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179638537C>A	ENST00000367614.1	+	16	3055	c.2696C>A	c.(2695-2697)tCt>tAt	p.S899Y	TDRD5_ENST00000444136.1_Missense_Mutation_p.S953Y|TDRD5_ENST00000294848.8_Missense_Mutation_p.S899Y	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	899					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CCCTCTGGTTCTGGTATGTTT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	103	110			NA	NA	1		NA											NA				179638537		2203	4300	6503	SO:0001583	missense			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782	163589	163589		Tudor domain containing	20614	protein-coding gene	gene with protein product					NA		Standard	NM_173533	NM_001199085	NA	Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.2696C>A	1.37:g.179638537C>A	ENSP00000356586:p.Ser899Tyr	NA	A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	37	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	C	4.097	0.016016	0.07959	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.34472	2.51;2.51;2.76;1.36	5.5	3.41	0.39046	.	0.791726	0.11065	N	0.603555	T	0.30854	0.0778	L	0.54323	1.7	0.28561	N	0.91114	B;B	0.33212	0.402;0.28	B;B	0.29716	0.106;0.049	T	0.33929	-0.9849	10	0.72032	D	0.01	-4.5519	5.5792	0.17241	0.0:0.7273:0.0:0.2727	.	953;899	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	Y	899;899;953;409	ENSP00000356586:S899Y;ENSP00000294848:S899Y;ENSP00000406052:S953Y;ENSP00000410744:S409Y	ENSP00000294848:S899Y	S	+	2	0	TDRD5	177905160	1.000000	0.71417	0.938000	0.37757	0.029000	0.11900	1.229000	0.32600	1.324000	0.45282	-0.143000	0.13931	TCT	TDRD5-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085295.1		+	ENST00000367614.1	Missense_Mutation	SNP	1 : 179638537 - 179638537 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	61
AP1M1	8907	broad.mit.edu	37	19	16339685	16339685	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16339685C>T	ENST00000429941.2	+	8	1004				AP1M1_ENST00000291439.3_Silent_p.S331S|AP1M1_ENST00000444449.2_Silent_p.S343S|AP1M1_ENST00000541844.1_Silent_p.S259S|AP1M1_ENST00000590756.1_Silent_p.S259S			Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	NA					cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						CGGTGGGGAGCGTTAAGTGGG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													226	135	166			NA	NA	19		NA											NA				16339685		2203	4300	6503	SO:0001627	intron_variant				CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23					8907	8907			13667	protein-coding gene	gene with protein product		603535			NA	9653655, 17988225	Standard	NM_032493	NM_032493	NA	Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000429941.2:c.888+666C>T	19.37:g.16339685C>T		NA		37																																																																																				AP1M1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000460495.1		+	ENST00000429941.2	Intron	SNP	19 : 16339685 - 16339685 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	196	56
PDZRN4	29951	broad.mit.edu	37	12	41949534	41949534	+	Missense_Mutation	SNP	G	G	A	rs138596022		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41949534G>A	ENST00000298919.7	+	7	945	c.557G>A	c.(556-558)cGg>cAg	p.R186Q	PDZRN4_ENST00000402685.2_Missense_Mutation_p.R446Q|PDZRN4_ENST00000539469.2_Missense_Mutation_p.R188Q			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	446							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AAAGACGGCCGGATTCGAGAA	0.398		NA											G	1	5e-04	NA	0.0028	2184	NA	1	,	,	NA	2e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0								G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	154	149	151		1337,563	4.3	0.9	12	dbSNP_134	151	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PDZRN4	NM_001164595.1,NM_013377.3	43,43	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging	446/1037,188/779	41949534	1,13005	2203	4300	6503	SO:0001583	missense			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966	29951	29951		RING-type (C3HC4) zinc fingers	30552	protein-coding gene	gene with protein product	similar to semaF cytoplasmic domain associated protein 3	609730			NA	11230166, 15010864	Standard	NM_013377	NM_013377	NA	Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000298919.7:c.557G>A	12.37:g.41949534G>A	ENSP00000298919:p.Arg186Gln	NA	Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	37		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	32	5.177813	0.94846	0.0	1.16E-4	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.50001	0.76;0.76;0.76	5.16	4.26	0.50523	PDZ/DHR/GLGF (4);	0.087075	0.48767	N	0.000177	T	0.62539	0.2436	L	0.49126	1.545	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;0.991	D;D;D	0.97110	0.999;1.0;0.97	T	0.66492	-0.5910	10	0.87932	D	0	-15.3825	14.1885	0.65623	0.0732:0.0:0.9268:0.0	.	446;186;188	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	Q	446;188;186	ENSP00000384197:R446Q;ENSP00000439990:R188Q;ENSP00000298919:R186Q	ENSP00000298919:R186Q	R	+	2	0	PDZRN4	40235801	1.000000	0.71417	0.915000	0.36163	0.973000	0.67179	7.891000	0.87319	1.489000	0.48450	0.650000	0.86243	CGG	PDZRN4-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000403703.1		+	ENST00000298919.7	Missense_Mutation	SNP	12 : 41949534 - 41949534 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	691	108
SEPT2	4735	broad.mit.edu	37	2	242282453	242282453	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242282453C>A	ENST00000391973.2	+	8	1169	c.641C>A	c.(640-642)cCt>cAt	p.P214H	SEPT2_ENST00000391971.2_Missense_Mutation_p.P214H|SEPT2_ENST00000401990.1_Missense_Mutation_p.P224H|SEPT2_ENST00000360051.3_Missense_Mutation_p.P214H|SEPT2_ENST00000407971.1_Missense_Mutation_p.P174H|SEPT2_ENST00000402092.2_Missense_Mutation_p.P214H	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	214					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		TATCACTTACCTGATGCAGAA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	117	115			NA	NA	2		NA											NA				242282453		2203	4300	6503	SO:0001583	missense			D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385	4735	4735		Septins	7729	protein-coding gene	gene with protein product		601506	neural precursor cell expressed, developmentally down-regulated 5	DIFF6, NEDD5	NA	8697812	Standard	NM_006155	XM_005247011	NA	Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	ENST00000391973.2:c.641C>A	2.37:g.242282453C>A	ENSP00000375834:p.Pro214His	NA	B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	37	CCDS2548.1	.	.	.	.	.	.	.	.	.	.	C	33	5.261942	0.95368	.	.	ENSG00000168385	ENST00000391973;ENST00000428282;ENST00000360051;ENST00000391971;ENST00000401990;ENST00000407971;ENST00000402092;ENST00000391972;ENST00000421717	T;T;T;T;T;T;T;T	0.79554	0.51;0.51;0.51;0.51;0.51;-1.28;0.51;-1.28	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.93848	0.8032	H	0.96970	3.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.996;0.975;0.985	D	0.95128	0.8252	10	0.87932	D	0	.	20.2422	0.98381	0.0:1.0:0.0:0.0	.	249;174;214	Q15019-2;B5MCX3;Q15019	.;.;SEPT2_HUMAN	H	214;174;214;214;224;174;214;249;69	ENSP00000375834:P214H;ENSP00000397195:P174H;ENSP00000353157:P214H;ENSP00000375832:P214H;ENSP00000385109:P224H;ENSP00000384525:P174H;ENSP00000385172:P214H;ENSP00000408296:P69H	ENSP00000353157:P214H	P	+	2	0	SEPT2	241931126	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.332000	0.79203	2.782000	0.95742	0.655000	0.94253	CCT	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323177.3		+	ENST00000391973.2	Missense_Mutation	SNP	2 : 242282453 - 242282453 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	663	102
GSN	2934	broad.mit.edu	37	9	124081117	124081117	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124081117G>A	ENST00000373823.3	+	17	2055	c.1150G>A	c.(1150-1152)Gcc>Acc	p.A384T	GSN_ENST00000449733.1_Missense_Mutation_p.A384T|GSN_ENST00000436847.1_Missense_Mutation_p.A395T|GSN_ENST00000341272.2_Missense_Mutation_p.A384T|GSN_ENST00000412819.1_Missense_Mutation_p.A384T|GSN_ENST00000373808.2_Missense_Mutation_p.A384T|GSN_ENST00000373818.4_Missense_Mutation_p.A435T|GSN_ENST00000545652.1_Missense_Mutation_p.A392T|GSN_ENST00000394353.2_Missense_Mutation_p.A395T|GSN_ENST00000373807.1_Missense_Mutation_p.A166T			P06396	GELS_HUMAN	gelsolin	435					actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						TGCCATGGCCGCCCAGCACGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	60	63			NA	NA	9		NA											NA				124081117		2203	4300	6503	SO:0001583	missense			X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180	2934	2934			4620	protein-coding gene	gene with protein product	amyloidosis, Finnish type	137350	gelsolin (amyloidosis, Finnish type)		NA	1652889	Standard	NM_000177	NM_001127662	NA	Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373823.3:c.1150G>A	9.37:g.124081117G>A	ENSP00000362929:p.Ala384Thr	NA	Q8WVV7	37	CCDS6829.1	.	.	.	.	.	.	.	.	.	.	G	35	5.501356	0.96371	.	.	ENSG00000148180	ENST00000373823;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818;ENST00000373807	T;T;T;T;T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.48484	0.1502	M	0.91140	3.18	0.80722	D	1	D;D;D;D;D	0.89917	0.992;0.998;0.963;1.0;0.997	P;P;B;D;P	0.81914	0.587;0.783;0.246;0.995;0.706	T	0.55573	-0.8120	10	0.54805	T	0.06	-29.0535	18.9865	0.92773	0.0:0.0:1.0:0.0	.	408;392;395;166;435	B7Z9A0;F5H1A8;B7Z373;Q5T0H9;P06396	.;.;.;.;GELS_HUMAN	T	384;395;395;384;384;384;384;368;358;392;435;166	ENSP00000362929:A384T;ENSP00000411293:A395T;ENSP00000377882:A395T;ENSP00000409358:A384T;ENSP00000416586:A384T;ENSP00000340888:A384T;ENSP00000362914:A384T;ENSP00000445823:A392T;ENSP00000362924:A435T;ENSP00000362913:A166T	ENSP00000340888:A384T	A	+	1	0	GSN	123120938	1.000000	0.71417	0.985000	0.45067	0.830000	0.47004	9.301000	0.96167	2.724000	0.93272	0.561000	0.74099	GCC	GSN-013	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254323.3		+	ENST00000373823.3	Missense_Mutation	SNP	9 : 124081117 - 124081117 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	538	114
AP3B1	8546	broad.mit.edu	37	5	77423893	77423893	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:77423893C>T	ENST00000519295.1	-	17	2053	c.1782G>A	c.(1780-1782)gcG>gcA	p.A594A	AP3B1_ENST00000255194.6_Silent_p.A643A	NM_003664.3	NP_003655.3	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	643					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		ATGGGTCGGGCGCCACCTCTG	0.398		NA							Hermansky-Pudlak syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	80	79			NA	NA	5		NA											NA				77423893		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842	8546	8546			566	protein-coding gene	gene with protein product		603401			NA	9182526, 9151686	Standard		NM_003664	NA	Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000519295.1:c.1782G>A	5.37:g.77423893C>T		NA	O00580|Q7Z393|Q9HD66	37																																																																																				AP3B1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000369905.1		-	ENST00000519295.1	Silent	SNP	5 : 77423893 - 77423893 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	536	88
LIPF	8513	broad.mit.edu	37	10	90433384	90433384	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90433384T>G	ENST00000394375.3	+	8	852	c.739T>G	c.(739-741)Ttt>Gtt	p.F247V	LIPF_ENST00000608620.1_Missense_Mutation_p.F204V|LIPF_ENST00000355843.2_Missense_Mutation_p.F214V|LIPF_ENST00000238983.4_Missense_Mutation_p.F237V	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	237					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		ACACAACTTCTTTGATCAATT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	182	181			NA	NA	10		NA											NA				90433384		2203	4300	6503	SO:0001583	missense			X05997	CCDS7389.1, CCDS55718.1, CCDS55719.1, CCDS65896.1	10q23	2005-10-30			ENSG00000182333	ENSG00000182333	8513	8513	3.1.1.3		6622	protein-coding gene	gene with protein product		601980			NA	3304425, 9186906	Standard		NM_004190	NA	Approved	HGL, HLAL	uc010qmt.2	P07098	OTTHUMG00000018695	ENST00000394375.3:c.739T>G	10.37:g.90433384T>G	ENSP00000377900:p.Phe247Val	NA	Q2M1P6	37	CCDS55718.1	.	.	.	.	.	.	.	.	.	.	T	19.90	3.913032	0.72983	.	.	ENSG00000182333	ENST00000394375;ENST00000238983;ENST00000355843	T;T;T	0.58652	0.32;0.32;0.32	5.17	2.71	0.32032	Alpha/beta hydrolase fold-1 (1);	0.635334	0.14697	N	0.303773	T	0.52869	0.1761	L	0.41824	1.3	0.09310	N	1	B;B;B;P	0.34412	0.018;0.398;0.036;0.453	B;P;B;P	0.46758	0.098;0.495;0.098;0.526	T	0.45220	-0.9276	10	0.31617	T	0.26	-4.4579	4.1726	0.10336	0.1504:0.1639:0.0:0.6857	.	204;247;214;237	Q5VXI8;F5H1P4;Q658L8;P07098	.;.;.;LIPG_HUMAN	V	247;237;204	ENSP00000377900:F247V;ENSP00000238983:F237V;ENSP00000348101:F204V	ENSP00000238983:F237V	F	+	1	0	LIPF	90423364	0.027000	0.19231	0.067000	0.19924	0.952000	0.60782	0.731000	0.26058	0.975000	0.38392	0.533000	0.62120	TTT	LIPF-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000471920.1		+	ENST00000394375.3	Missense_Mutation	SNP	10 : 90433384 - 90433384 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	921	153
IGSF22	283284	broad.mit.edu	37	11	18729430	18729430	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18729430G>A	ENST00000513874.1	-	20	3340	c.3201C>T	c.(3199-3201)cgC>cgT	p.R1067R	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	672										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CTGAGTCAGAGCGCTTGGTGC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													196	167	176			NA	NA	11		NA											NA				18729430		692	1591	2283	SO:0001819	synonymous_variant			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057	283284	283284		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	26750	protein-coding gene	gene with protein product					NA		Standard	NM_173588	NM_173588	NA	Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.3201C>T	11.37:g.18729430G>A		NA	A6NNA0	37	CCDS41625.2																																																																																			IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360850.2		-	ENST00000513874.1	Silent	SNP	11 : 18729430 - 18729430 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	188	27
CYP3A7	1551	broad.mit.edu	37	7	99306847	99306847	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99306847T>C	ENST00000336374.2	-	11	1066	c.1064A>G	c.(1063-1065)tAt>tGt	p.Y355C		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	355					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					CATGTCAAGATACTCCAACTG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	111	116			NA	NA	7		NA											NA				99306847		2203	4300	6503	SO:0001583	missense			AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870	1551	1551		Cytochrome P450s	2640	protein-coding gene	gene with protein product		605340	cytochrome P450, subfamily IIIA, polypeptide 7		NA	2722762	Standard		NM_000765	NA	Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.1064A>G	7.37:g.99306847T>C	ENSP00000337450:p.Tyr355Cys	NA	A4D288	37	CCDS5673.1	.	.	.	.	.	.	.	.	.	.	t	12.29	1.894344	0.33442	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	T	0.76186	-1.0	3.46	3.46	0.39613	.	0.060024	0.64402	N	0.000002	D	0.91229	0.7236	H	0.99368	4.535	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.92453	0.5971	10	0.87932	D	0	.	10.1349	0.42701	0.0:0.0:0.0:1.0	.	355	P24462	CP3A7_HUMAN	C	355	ENSP00000337450:Y355C	ENSP00000292414:Y355C	Y	-	2	0	CYP3A7	99144783	1.000000	0.71417	0.714000	0.30535	0.045000	0.14185	7.649000	0.83500	1.335000	0.45486	0.254000	0.18369	TAT	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345484.1		-	ENST00000336374.2	Missense_Mutation	SNP	7 : 99306847 - 99306847 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	367	37
SLC4A3	6508	broad.mit.edu	37	2	220504209	220504209	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220504209T>G	ENST00000358055.3	+	20	3541	c.3029T>G	c.(3028-3030)aTc>aGc	p.I1010S	SLC4A3_ENST00000273063.6_Missense_Mutation_p.I1037S|SLC4A3_ENST00000317151.3_Missense_Mutation_p.I1010S|SLC4A3_ENST00000373762.3_Missense_Mutation_p.I1037S|SLC4A3_ENST00000373760.2_Missense_Mutation_p.I1010S			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1010	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCAGGCTTATCGTCAGCCAG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	57	54			NA	NA	2		NA											NA				220504209		2203	4300	6503	SO:0001583	missense				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923	6508	6508		Solute carriers	11029	protein-coding gene	gene with protein product	Anion exchanger 3, neuronal	106195	solute carrier family 4, anion exchanger, member 3		NA	8001971	Standard	NM_005070	NM_005070	NA	Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.3029T>G	2.37:g.220504209T>G	ENSP00000350756:p.Ile1010Ser	NA	A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	37	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	T	18.81	3.703605	0.68501	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000356251;ENST00000317151	D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95	4.38	4.38	0.52667	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94535	0.8240	H	0.96175	3.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	D	0.96060	0.9038	10	0.87932	D	0	.	14.0874	0.64968	0.0:0.0:0.0:1.0	.	714;1010;1037	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	S	1010;1010;1037;1037;270;1010	ENSP00000350756:I1010S;ENSP00000362865:I1010S;ENSP00000273063:I1037S;ENSP00000362867:I1037S;ENSP00000314006:I1010S	ENSP00000273063:I1037S	I	+	2	0	SLC4A3	220212453	1.000000	0.71417	0.932000	0.37286	0.580000	0.36256	7.699000	0.84547	1.968000	0.57251	0.440000	0.28878	ATC	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316472.1		+	ENST00000358055.3	Missense_Mutation	SNP	2 : 220504209 - 220504209 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	620	93
ZNF668	79759	broad.mit.edu	37	16	31072498	31072498	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31072498G>A	ENST00000538906.1	-	3	2535	c.1751C>T	c.(1750-1752)gCc>gTc	p.A584V	ZNF668_ENST00000539836.3_Missense_Mutation_p.A607V|ZNF668_ENST00000535577.1_Missense_Mutation_p.A584V|ZNF668_ENST00000426488.2_Missense_Mutation_p.A607V|ZNF668_ENST00000394983.2_Missense_Mutation_p.A584V|ZNF668_ENST00000300849.4_Missense_Mutation_p.A584V	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CAAGTCGCTGGCACTCAAGAA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(181;1111 1980 5060 10512 25785)							NA				0													62	64	64			NA	NA	16		NA											NA				31072498		2197	4300	6497	SO:0001583	missense				CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394	79759	79759		Zinc fingers, C2H2-type	25821	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024706	NM_024706	NA	Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1751C>T	16.37:g.31072498G>A	ENSP00000440149:p.Ala584Val	NA	Q59EV1|Q8N669|Q9H8L4	37	CCDS10701.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658554	0.67586	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63	4.93	4.93	0.64822	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.30634	0.0771	N	0.14661	0.345	0.47476	D	0.99943	D	0.61080	0.989	P	0.57846	0.828	T	0.02736	-1.1117	10	0.27785	T	0.31	-22.282	12.8872	0.58051	0.0:0.164:0.836:0.0	.	584	Q96K58	ZN668_HUMAN	V	607;584;584;584;584	ENSP00000442573:A607V;ENSP00000441349:A584V;ENSP00000440149:A584V;ENSP00000378434:A584V;ENSP00000300849:A584V	ENSP00000300849:A584V	A	-	2	0	ZNF668	30979999	0.877000	0.30153	1.000000	0.80357	0.985000	0.73830	3.882000	0.56160	2.581000	0.87130	0.561000	0.74099	GCC	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000108516.2		-	ENST00000538906.1	Missense_Mutation	SNP	16 : 31072498 - 31072498 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	739	172
ZBED4	9889	broad.mit.edu	37	22	50280636	50280636	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50280636C>T	ENST00000216268.5	+	2	3803	c.3326C>T	c.(3325-3327)gCg>gTg	p.A1109V		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	NA						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CTGAAGAAGGCGTCCTGGCCG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	53	56			NA	NA	22		NA											NA				50280636		2203	4300	6503	SO:0001583	missense			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426	9889	9889		Zinc fingers, BED-type	20721	protein-coding gene	gene with protein product		612552			NA	23533661	Standard	NM_014838	NM_014838	NA	Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.3326C>T	22.37:g.50280636C>T	ENSP00000216268:p.Ala1109Val	NA	B2RZH1|Q1ECU0|Q9UGG8	37	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	C	3.477	-0.106658	0.06924	.	.	ENSG00000100426	ENST00000216268	T	0.25250	1.81	5.17	4.15	0.48705	HAT dimerisation (1);Ribonuclease H-like (1);	0.666618	0.15432	N	0.262679	T	0.17874	0.0429	N	0.21142	0.635	0.09310	N	1	B	0.27882	0.192	B	0.19946	0.027	T	0.11991	-1.0565	10	0.35671	T	0.21	-4.1212	13.5439	0.61690	0.0:0.9256:0.0:0.0744	.	1109	O75132	ZBED4_HUMAN	V	1109	ENSP00000216268:A1109V	ENSP00000216268:A1109V	A	+	2	0	ZBED4	48666640	1.000000	0.71417	0.002000	0.10522	0.207000	0.24258	5.419000	0.66435	1.416000	0.47057	0.650000	0.86243	GCG	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317408.2		+	ENST00000216268.5	Missense_Mutation	SNP	22 : 50280636 - 50280636 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	62
IGDCC4	57722	broad.mit.edu	37	15	65688258	65688258	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65688258G>A	ENST00000352385.2	-	7	1450	c.1241C>T	c.(1240-1242)gCg>gTg	p.A414V		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	414	Ig-like C2-type 4.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGCAGCGCACGCCATTCCCGC	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	15	15			NA	NA	15		NA											NA				65688258		2185	4277	6462	SO:0001583	missense				CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742	57722	57722		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	13770	protein-coding gene	gene with protein product	likely ortholog of mouse neighbor of Punc E11				NA		Standard	NM_020962	NM_020962	NA	Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.1241C>T	15.37:g.65688258G>A	ENSP00000319623:p.Ala414Val	NA	Q9HCE4	37	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771226	0.49680	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.67171	-0.25	4.45	4.45	0.53987	Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.66934	0.2840	N	0.11927	0.2	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.65932	-0.6048	10	0.21014	T	0.42	-25.2419	17.4669	0.87635	0.0:0.0:1.0:0.0	.	414	Q8TDY8	IGDC4_HUMAN	V	414;143	ENSP00000319623:A414V	ENSP00000319623:A414V	A	-	2	0	IGDCC4	63475311	1.000000	0.71417	0.021000	0.16686	0.302000	0.27658	9.761000	0.98940	2.187000	0.69744	0.462000	0.41574	GCG	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256825.2		-	ENST00000352385.2	Missense_Mutation	SNP	15 : 65688258 - 65688258 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	87	21
GLTSCR2	29997	broad.mit.edu	37	19	48255775	48255775	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48255775G>A	ENST00000246802.5	+	6	714	c.676G>A	c.(676-678)Gca>Aca	p.A226T	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	226						nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		ACAGCGGCCAGCACGCCTGCA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(58;613 1041 9473 10089 15241)							NA				0													54	48	50			NA	NA	19		NA											NA				48255775		2203	4300	6503	SO:0001583	missense			AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373	29997	29997			4333	protein-coding gene	gene with protein product		605691			NA	10708517, 16971513, 17657248	Standard	NM_015710	NM_015710	NA	Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.676G>A	19.37:g.48255775G>A	ENSP00000246802:p.Ala226Thr	NA	Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	37	CCDS12705.1	.	.	.	.	.	.	.	.	.	.	g	7.465	0.645474	0.14451	.	.	ENSG00000105373	ENST00000246802;ENST00000325566	T	0.43688	0.94	4.08	1.93	0.25924	.	1.116760	0.06648	N	0.762308	T	0.23688	0.0573	N	0.12182	0.205	0.09310	N	1	B;B;B	0.19331	0.035;0.028;0.035	B;B;B	0.24394	0.033;0.024;0.053	T	0.30208	-0.9986	10	0.14656	T	0.56	-1.9066	5.7496	0.18140	0.0:0.6922:0.199:0.1088	.	226;226;224	Q53YP0;Q9NZM5;Q96CS0	.;GSCR2_HUMAN;.	T	226	ENSP00000246802:A226T	ENSP00000246802:A226T	A	+	1	0	GLTSCR2	52947587	0.000000	0.05858	0.006000	0.13384	0.108000	0.19459	0.736000	0.26130	0.500000	0.27991	-0.387000	0.06579	GCA	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464870.1		+	ENST00000246802.5	Missense_Mutation	SNP	19 : 48255775 - 48255775 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	398	72
ZNF292	23036	broad.mit.edu	37	6	87968743	87968743	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:87968743A>G	ENST00000369577.3	+	8	5439	c.5396A>G	c.(5395-5397)aAc>aGc	p.N1799S	ZNF292_ENST00000339907.4_Missense_Mutation_p.N1794S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1799					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CCTTCAGTAAACACTGTGCAA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	37	37			NA	NA	6		NA											NA				87968743		1841	4092	5933	SO:0001583	missense			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994	23036	23036		Zinc fingers, C2H2-type	18410	protein-coding gene	gene with protein product					NA	9628581	Standard	NM_015021	NM_015021	NA	Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.5396A>G	6.37:g.87968743A>G	ENSP00000358590:p.Asn1799Ser	NA	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	37	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	A	12.51	1.961086	0.34565	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.08008	3.14;3.15	5.86	4.7	0.59300	.	0.216097	0.37095	N	0.002260	T	0.04907	0.0132	N	0.24115	0.695	0.33391	D	0.576128	D	0.63880	0.993	P	0.51516	0.672	T	0.17868	-1.0355	10	0.72032	D	0.01	.	12.125	0.53913	0.9332:0.0:0.0668:0.0	.	1799	O60281	ZN292_HUMAN	S	1799;1794	ENSP00000358590:N1799S;ENSP00000342847:N1794S	ENSP00000342847:N1794S	N	+	2	0	ZNF292	88025462	0.554000	0.26522	1.000000	0.80357	0.612000	0.37316	1.086000	0.30853	1.153000	0.42468	-0.263000	0.10527	AAC	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376192.2		+	ENST00000369577.3	Missense_Mutation	SNP	6 : 87968743 - 87968743 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	162	13
DOCK2	1794	broad.mit.edu	37	5	169474616	169474616	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169474616C>T	ENST00000520908.1	+	26	2709	c.2545C>T	c.(2545-2547)Cgg>Tgg	p.R849W	DOCK2_ENST00000540750.1_Missense_Mutation_p.R418W|DOCK2_ENST00000256935.8_Missense_Mutation_p.R1357W|DOCK2_ENST00000523351.1_3'UTR			Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1357					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.R1357W(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCCTTCCTGCGGGTGAGTTT	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)											68	68	68			NA	NA	5		NA											NA				169474616		2203	4300	6503	SO:0001583	missense			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516	1794	1794			2988	protein-coding gene	gene with protein product		603122	dedicator of cyto-kinesis 2		NA		Standard	NM_004946	NM_004946	NA	Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000520908.1:c.2545C>T	5.37:g.169474616C>T	ENSP00000429283:p.Arg849Trp	NA	Q2M3I0|Q96AK7	37		.	.	.	.	.	.	.	.	.	.	C	20.4	3.983404	0.74474	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.12465	3.34;2.96;2.68	5.21	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.46560	0.1399	M	0.92507	3.315	0.41599	D	0.988849	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.60811	-0.7189	10	0.87932	D	0	.	14.8729	0.70471	0.1947:0.8053:0.0:0.0	.	849;1357	E7ERW7;Q92608	.;DOCK2_HUMAN	W	1357;849;418	ENSP00000256935:R1357W;ENSP00000429283:R849W;ENSP00000438827:R418W	ENSP00000256935:R1357W	R	+	1	2	DOCK2	169407194	0.901000	0.30685	1.000000	0.80357	0.859000	0.49053	1.258000	0.32944	2.419000	0.82065	0.561000	0.74099	CGG	DOCK2-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000371643.1		+	ENST00000520908.1	Missense_Mutation	SNP	5 : 169474616 - 169474616 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	49
NPAS4	266743	broad.mit.edu	37	11	66192584	66192584	+	Silent	SNP	G	G	A	rs151135507		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66192584G>A	ENST00000311034.2	+	7	2399	c.2223G>A	c.(2221-2223)tcG>tcA	p.S741S		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	741					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GGGCCCCATCGCCTTGCAACA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4400		0,0,2200	60	63	62		2223	-0.8	0.9	11	dbSNP_134	62	2,8588	2.2+/-6.3	0,2,4293	no	coding-synonymous	NPAS4	NM_178864.3		0,2,6493	AA,AG,GG	NA	0.0233,0.0,0.0154		741/803	66192584	2,12988	2200	4295	6495	SO:0001819	synonymous_variant			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576	266743	266743		Basic helix-loop-helix proteins	18983	protein-coding gene	gene with protein product		608554			NA	14701734	Standard	NM_178864	NM_178864	NA	Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.2223G>A	11.37:g.66192584G>A		NA	Q8N8S5|Q8N9Q9	37	CCDS8138.1																																																																																			NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392634.1		+	ENST00000311034.2	Silent	SNP	11 : 66192584 - 66192584 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	519	105
POM121	9883	broad.mit.edu	37	7	72413259	72413259	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72413259G>A	ENST00000395270.1	+	14	2973	c.1932G>A	c.(1930-1932)acG>acA	p.T644T	POM121_ENST00000358357.3_Silent_p.T644T|POM121_ENST00000434423.2_Silent_p.T909T|POM121_ENST00000446813.1_Silent_p.T644T|POM121_ENST00000257622.4_Silent_p.T644T	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	909	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CCGTGCCAACGGCCACCAGCA	0.627		NA											G	1	5e-04	NA	NA	2184	NA	0.9995	,	,	NA	3e-04	0.0013	NA	NA	7e-04	0.7787	LOWCOV	NA	NA	0.0043	SNP								NA				0													66	81	76			NA	NA	7		NA											NA				72413259		2107	4261	6368	SO:0001819	synonymous_variant			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313	9883	9883		-	19702	protein-coding gene	gene with protein product		615753	POM121 membrane glycoprotein (rat), POM121 membrane glycoprotein		NA	8335683, 9734811, 17900573	Standard		NM_172020	NA	Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000395270.1:c.1932G>A	7.37:g.72413259G>A		NA	A6NFS9|A8CDT4|A8K933|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	37	CCDS59059.1																																																																																			POM121-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252020.1		+	ENST00000395270.1	Silent	SNP	7 : 72413259 - 72413259 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	282	141
NOA1	84273	broad.mit.edu	37	4	57843518	57843518	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57843518G>T	ENST00000264230.4	-	1	1471	c.234C>A	c.(232-234)atC>atA	p.I78I		NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN	nitric oxide associated 1	78							GTP binding				NA						CCGGATCCAGGATGTACTCCG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	58	59			NA	NA	4		NA											NA				57843518		2203	4300	6503	SO:0001819	synonymous_variant			AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092	84273	84273			28473	protein-coding gene	gene with protein product	nitric oxide synthase, mitochondrial (putative), mitochondrial GTPase 3 homolog (S. cerevisiae)	614919	chromosome 4 open reading frame 14	C4orf14	NA	16380119, 2118999, 21771794, 22447445	Standard	NM_032313	NM_032313	NA	Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.234C>A	4.37:g.57843518G>T		NA	Q8N7L6|Q9BSQ9	37	CCDS3510.1																																																																																			NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250694.2		-	ENST00000264230.4	Silent	SNP	4 : 57843518 - 57843518 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	387	80
TNKS	8658	broad.mit.edu	37	8	9605704	9605704	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:9605704G>A	ENST00000518281.1	+	18	2534	c.2103G>A	c.(2101-2103)acG>acA	p.T701T	TNKS_ENST00000310430.6_Silent_p.T938T			O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	938					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AAGGCCAGACGCCTCTGGATC	0.522		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	79	72	75		2814	-1.6	1	8		75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TNKS	NM_003747.2		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		938/1328	9605704	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273	8658	8658		Poly (ADP-ribose) polymerases, Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	11941	protein-coding gene	gene with protein product		603303			NA	9822378, 10198177	Standard	NM_003747	XM_006716263	NA	Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000518281.1:c.2103G>A	8.37:g.9605704G>A		NA	O95272	37																																																																																				TNKS-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000375036.1		+	ENST00000518281.1	Silent	SNP	8 : 9605704 - 9605704 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	211	46
GRAMD2	196996	broad.mit.edu	37	15	72455661	72455661	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72455661C>T	ENST00000309731.7	-	10	915	c.902G>A	c.(901-903)aGc>aAc	p.S301N	GRAMD2_ENST00000564184.1_5'UTR	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	301						integral to membrane				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						CTCCCCAGTGCTCCTGGGCTC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	75	74			NA	NA	15		NA											NA				72455661		2199	4297	6496	SO:0001583	missense			AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03			196996	196996			27287	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_001012642	NM_001012642	NA	Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.902G>A	15.37:g.72455661C>T	ENSP00000311657:p.Ser301Asn	NA	B3KT68	37	CCDS32283.1	.	.	.	.	.	.	.	.	.	.	C	7.424	0.637417	0.14386	.	.	ENSG00000175318	ENST00000309731	T	0.32272	1.46	5.46	2.45	0.29901	.	0.839871	0.11079	N	0.602061	T	0.25082	0.0609	L	0.47716	1.5	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.30001	-0.9993	10	0.20519	T	0.43	.	8.5009	0.33156	0.0:0.6177:0.3011:0.0812	.	301	Q8IUY3	GRAM2_HUMAN	N	301	ENSP00000311657:S301N	ENSP00000311657:S301N	S	-	2	0	GRAMD2	70242715	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.216000	0.17585	0.235000	0.21160	0.655000	0.94253	AGC	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000420040.1		-	ENST00000309731.7	Missense_Mutation	SNP	15 : 72455661 - 72455661 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	478	42
MTSS1L	92154	broad.mit.edu	37	16	70698336	70698336	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70698336G>T	ENST00000338779.6	-	15	1762	c.1488C>A	c.(1486-1488)tgC>tgA	p.C496*	FLJ00418_ENST00000597002.1_5'UTR	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	496					filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						TCACGGAGTAGCAGTCGTAGT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	22	22			NA	NA	16		NA											NA				70698336		2196	4298	6494	SO:0001587	stop_gained				CCDS32476.1	16q22.1	2008-12-16				ENSG00000132613	92154	92154			25094	protein-coding gene	gene with protein product	actin-bundling protein with BAIAP2 homology				NA	12477932	Standard	NM_138383	XM_006721335	NA	Approved	ABBA-1, LOC92154	uc002ezj.3	Q765P7		ENST00000338779.6:c.1488C>A	16.37:g.70698336G>T	ENSP00000341171:p.Cys496*	NA	A6NJI7|Q9BUA8	37	CCDS32476.1	.	.	.	.	.	.	.	.	.	.	G	38	7.245377	0.98161	.	.	ENSG00000132613	ENST00000338779	.	.	.	4.89	4.89	0.63831	.	0.049273	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-33.5027	11.2412	0.48970	0.0861:0.0:0.9139:0.0	.	.	.	.	X	496	.	ENSP00000341171:C496X	C	-	3	2	MTSS1L	69255837	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	3.019000	0.49635	2.245000	0.73994	0.462000	0.41574	TGC	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434927.3		-	ENST00000338779.6	Nonsense_Mutation	SNP	16 : 70698336 - 70698336 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	102	20
GABRB1	2560	broad.mit.edu	37	4	47427969	47427969	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47427969C>T	ENST00000295454.3	+	9	1651	c.1359C>T	c.(1357-1359)tcC>tcT	p.S453S	GABRB1_ENST00000538619.1_Silent_p.S383S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	453					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ACAAGTGGTCCCGAATGTTTT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	108	109			NA	NA	4		NA											NA				47427969		2203	4300	6503	SO:0001819	synonymous_variant				CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288	2560	2560		GABA receptors, Ligand-gated ion channels / GABA(A) receptors	4081	protein-coding gene	gene with protein product	GABA(A) receptor, beta 1	137190			NA		Standard		NM_000812	NA	Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1359C>T	4.37:g.47427969C>T		NA	B2R6U7|Q16166|Q8TBK3	37	CCDS3474.1																																																																																			GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216896.1		+	ENST00000295454.3	Silent	SNP	4 : 47427969 - 47427969 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1018	140
LRRK2	120892	broad.mit.edu	37	12	40704345	40704345	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40704345G>A	ENST00000298910.7	+	31	4488	c.4430G>A	c.(4429-4431)cGa>cAa	p.R1477Q		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1477	Roc.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTGAATAAGCGAGGGTTCCCT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													185	179	181			NA	NA	12		NA											NA				40704345		2203	4300	6503	SO:0001583	missense			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906	120892	120892		Parkinson disease	18618	protein-coding gene	gene with protein product		609007	Parkinson disease (autosomal dominant) 8	PARK8	NA	15541308	Standard	XM_058513	NM_198578	NA	Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.4430G>A	12.37:g.40704345G>A	ENSP00000298910:p.Arg1477Gln	NA	A6NJU2|Q6ZS50|Q8NCX9	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.525058	0.44969	.	.	ENSG00000188906	ENST00000298910	T	0.80304	-1.36	5.53	5.53	0.82687	ROC GTPase (1);	0.147080	0.47455	D	0.000223	T	0.63616	0.2526	L	0.29908	0.895	0.29304	N	0.868489	B;P	0.35908	0.338;0.527	B;B	0.15484	0.009;0.013	T	0.59247	-0.7490	10	0.13470	T	0.59	.	12.7605	0.57361	0.075:0.0:0.925:0.0	.	1477;1477	Q17RV3;Q5S007	.;LRRK2_HUMAN	Q	1477	ENSP00000298910:R1477Q	ENSP00000298910:R1477Q	R	+	2	0	LRRK2	38990612	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.642000	0.61383	2.597000	0.87782	0.650000	0.86243	CGA	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277179.1		+	ENST00000298910.7	Missense_Mutation	SNP	12 : 40704345 - 40704345 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	801	170
TBC1D25	4943	broad.mit.edu	37	X	48419054	48419054	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48419054G>T	ENST00000376771.4	+	6	2099	c.1758G>T	c.(1756-1758)gaG>gaT	p.E586D	TBC1D25_ENST00000537536.1_Missense_Mutation_p.E332D	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	586						intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TGATGCAAGAGGTAGGCTCCC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	76	80			NA	NA	X		NA											NA				48419054		2203	4300	6503	SO:0001583	missense			L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354	4943	4943			8092	protein-coding gene	gene with protein product		311240	ornithine aminotransferase-like 1	OATL1	NA	21383079	Standard	NM_002536	NM_002536	NA	Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.1758G>T	X.37:g.48419054G>T	ENSP00000365962:p.Glu586Asp	NA	Q08AN9|Q3MII4|Q8TAR9	37	CCDS35242.1	.	.	.	.	.	.	.	.	.	.	G	2.166	-0.390994	0.04932	.	.	ENSG00000068354	ENST00000376771;ENST00000537536	T;T	0.14766	2.49;2.48	4.73	3.86	0.44501	Rab-GAP/TBC domain (1);	0.939161	0.08968	N	0.867691	T	0.13841	0.0335	L	0.36672	1.1	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.25257	-1.0137	10	0.49607	T	0.09	-13.5907	11.8855	0.52600	0.0:0.1872:0.8128:0.0	.	590;528;586	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	D	586;332	ENSP00000365962:E586D;ENSP00000444091:E332D	ENSP00000365962:E586D	E	+	3	2	TBC1D25	48303998	0.262000	0.24073	0.184000	0.23157	0.294000	0.27393	0.335000	0.19806	0.906000	0.36621	0.436000	0.28706	GAG	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060764.2		+	ENST00000376771.4	Missense_Mutation	SNP	X : 48419054 - 48419054 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	522	16
COL8A2	1296	broad.mit.edu	37	1	36564482	36564482	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36564482C>T	ENST00000397799.1	-	4	1024	c.800G>A	c.(799-801)gGa>gAa	p.G267E	COL8A2_ENST00000481785.1_Missense_Mutation_p.G202E|COL8A2_ENST00000303143.4_Missense_Mutation_p.G267E			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	267	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCCACAGCTCCTGGCTCCCC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	18	17			NA	NA	1		NA											NA				36564482		2195	4291	6486	SO:0001583	missense			M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812	1296	1296		Collagens	2216	protein-coding gene	gene with protein product		120252		FECD	NA	11689488	Standard	NM_005202	XM_005270477	NA	Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.800G>A	1.37:g.36564482C>T	ENSP00000380901:p.Gly267Glu	NA	Q5JV31|Q8TEJ5	37	CCDS403.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184875	0.38609	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785	D;D;D	0.97924	-4.61;-4.61;-4.61	3.78	3.78	0.43462	.	0.000000	0.85682	D	0.000000	D	0.99312	0.9759	H	0.99273	4.495	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98227	1.0481	10	0.72032	D	0.01	.	15.8236	0.78678	0.0:1.0:0.0:0.0	.	267	P25067	CO8A2_HUMAN	E	267;267;202	ENSP00000305913:G267E;ENSP00000380901:G267E;ENSP00000436433:G202E	ENSP00000305913:G267E	G	-	2	0	COL8A2	36337069	0.999000	0.42202	0.977000	0.42913	0.470000	0.32858	5.903000	0.69877	1.948000	0.56530	0.205000	0.17691	GGA	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313674.1		-	ENST00000397799.1	Missense_Mutation	SNP	1 : 36564482 - 36564482 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	169	18
FAM73B	84895	broad.mit.edu	37	9	131830525	131830525	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131830525G>A	ENST00000358369.4	+	13	1544	c.1318G>A	c.(1318-1320)Gac>Aac	p.D440N	FAM73B_ENST00000406926.2_3'UTR|FAM73B_ENST00000277475.5_3'UTR	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	440						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						CATCCTCATGGACGCCTTCGA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	102	108			NA	NA	9		NA											NA				131830525		2203	4300	6503	SO:0001583	missense			AK074127	CCDS6917.1	9q34.13	2008-02-05	2005-08-11	2005-08-11	ENSG00000148343	ENSG00000148343	84895	84895			23621	protein-coding gene	gene with protein product			chromosome 9 open reading frame 54	C9orf54	NA		Standard	NM_032809	NM_032809	NA	Approved	FLJ14596, FLJ00199	uc004bxa.3	Q7L4E1	OTTHUMG00000020770	ENST00000358369.4:c.1318G>A	9.37:g.131830525G>A	ENSP00000351138:p.Asp440Asn	NA	Q8NBM3|Q8TEJ6|Q969E6	37	CCDS6917.1	.	.	.	.	.	.	.	.	.	.	G	35	5.588139	0.96590	.	.	ENSG00000148343	ENST00000358369	T	0.52295	0.67	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.73961	0.3654	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.79193	-0.1904	10	0.87932	D	0	-33.4835	17.967	0.89102	0.0:0.0:1.0:0.0	.	504;440	B4DZP8;Q7L4E1	.;FA73B_HUMAN	N	440	ENSP00000351138:D440N	ENSP00000351138:D440N	D	+	1	0	FAM73B	130870346	1.000000	0.71417	0.999000	0.59377	0.897000	0.52465	9.203000	0.95033	2.491000	0.84063	0.561000	0.74099	GAC	FAM73B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054542.7		+	ENST00000358369.4	Missense_Mutation	SNP	9 : 131830525 - 131830525 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	439	65
CTNNA2	1496	broad.mit.edu	37	2	80101316	80101316	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80101316G>A	ENST00000402739.4	+	5	705	c.700G>A	c.(700-702)Gcc>Acc	p.A234T	CTNNA2_ENST00000541047.1_Missense_Mutation_p.A234T|CTNNA2_ENST00000466387.1_Missense_Mutation_p.A234T|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A268T|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A234T|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A234T	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	234					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CCCAGATGTCGCCGCTACGAG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA,THR/ALA	0,4156		0,0,2078	51	55	53		700,700	5.7	0.7	2		53	1,8443		0,1,4221	no	missense,missense	CTNNA2	NM_001164883.1,NM_004389.3	58,58	0,1,6299	AA,AG,GG	NA	0.0118,0.0,0.0079	possibly-damaging,possibly-damaging	234/861,234/906	80101316	1,12599	2078	4222	6300	SO:0001583	missense				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032	1496	1496			2510	protein-coding gene	gene with protein product	cadherin-associated protein, related, cancer/testis antigen 114	114025			NA	8432524	Standard	NM_004389	NM_004389	NA	Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.700G>A	2.37:g.80101316G>A	ENSP00000384638:p.Ala234Thr	NA	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	37		.	.	.	.	.	.	.	.	.	.	G	21.0	4.086571	0.76642	0.0	1.18E-4	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.59362	0.2188	M	0.75777	2.31	0.80722	D	1	D;D;D	0.63880	0.989;0.993;0.993	P;P;P	0.55999	0.789;0.684;0.768	T	0.53301	-0.8458	10	0.19147	T	0.46	.	19.8448	0.96704	0.0:0.0:1.0:0.0	.	234;234;234	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	T	234;234;268;234;234;234	ENSP00000418191:A234T;ENSP00000419295:A234T;ENSP00000355398:A268T;ENSP00000384638:A234T;ENSP00000444675:A234T;ENSP00000441705:A234T	ENSP00000355398:A268T	A	+	1	0	CTNNA2	79954824	1.000000	0.71417	0.742000	0.31022	0.816000	0.46133	9.869000	0.99810	2.686000	0.91538	0.650000	0.86243	GCC	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000328511.4		+	ENST00000402739.4	Missense_Mutation	SNP	2 : 80101316 - 80101316 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	445	90
KLHL26	55295	broad.mit.edu	37	19	18779809	18779809	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18779809G>A	ENST00000300976.4	+	3	1692	c.1602G>A	c.(1600-1602)ccG>ccA	p.P534P	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	534										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						ACTATGTGCCGGAGACGGACC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	47	47			NA	NA	19		NA											NA				18779809		2203	4298	6501	SO:0001819	synonymous_variant				CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487	55295	55295		Kelch-like, BTB/POZ domain containing	25623	protein-coding gene	gene with protein product			kelch-like 26 (Drosophila)		NA		Standard	NM_018316	XM_006722785	NA	Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.1602G>A	19.37:g.18779809G>A		NA	Q8TAP0|Q9NUX3	37	CCDS12384.1																																																																																			KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465145.1		+	ENST00000300976.4	Silent	SNP	19 : 18779809 - 18779809 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	399	64
C16orf54	283897	broad.mit.edu	37	16	29755643	29755643	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29755643G>A	ENST00000329410.3	-	2	725	c.630C>T	c.(628-630)atC>atT	p.I210I		NM_175900.3	NP_787096.2	Q6UWD8	CP054_HUMAN	chromosome 16 open reading frame 54	210						integral to membrane				breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						AGAAAGCTGAGATCTGCTCCA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	17	16			NA	NA	16		NA											NA				29755643		2090	4165	6255	SO:0001819	synonymous_variant			AK093000	CCDS10652.1	16p11.2	2012-10-10		2005-08-09	ENSG00000185905	ENSG00000185905	283897	283897			26649	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_175900	NM_175900	NA	Approved	FLJ35681	uc002dtp.2	Q6UWD8	OTTHUMG00000132116	ENST00000329410.3:c.630C>T	16.37:g.29755643G>A		NA	A6NJR6|Q8NAB0	37	CCDS10652.1																																																																																			C16orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255158.1		-	ENST00000329410.3	Silent	SNP	16 : 29755643 - 29755643 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	186	25
SPSB3	90864	broad.mit.edu	37	16	1827983	1827983	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1827983C>T	ENST00000566339.1	-	5	889	c.559G>A	c.(559-561)Ggc>Agc	p.G187S	SPSB3_ENST00000301717.4_Missense_Mutation_p.G187S	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	187	B30.2/SPRY.				intracellular signal transduction					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						TCATCCCTGCCCAGCAGGCTG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	57	57			NA	NA	16		NA											NA				1827983		2197	4300	6497	SO:0001583	missense				CCDS32365.1	16p13.3	2008-02-05				ENSG00000162032	90864	90864			30629	protein-coding gene	gene with protein product		611659	chromosome 16 open reading frame 31	C16orf31	NA	12076535	Standard	NM_080861	NM_080861	NA	Approved	SSB-3	uc002cmu.3	Q6PJ21		ENST00000566339.1:c.559G>A	16.37:g.1827983C>T	ENSP00000457206:p.Gly187Ser	NA	D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	37	CCDS32365.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937168	0.92458	.	.	ENSG00000162032	ENST00000301717	D	0.86562	-2.14	4.29	4.29	0.51040	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.94525	0.8237	H	0.94771	3.58	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	D	0.95015	0.8155	10	0.87932	D	0	-31.5361	10.1509	0.42794	0.0:0.8992:0.0:0.1008	.	187	Q6PJ21	SPSB3_HUMAN	S	187	ENSP00000301717:G187S	ENSP00000301717:G187S	G	-	1	0	SPSB3	1767984	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	5.487000	0.66863	1.918000	0.55548	0.561000	0.74099	GGC	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000433512.1		-	ENST00000566339.1	Missense_Mutation	SNP	16 : 1827983 - 1827983 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	56
TGM1	7051	broad.mit.edu	37	14	24724683	24724683	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24724683C>T	ENST00000206765.6	-	11	1655	c.1532G>A	c.(1531-1533)gGc>gAc	p.G511D	TGM1_ENST00000544573.1_Missense_Mutation_p.G69D	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	511					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CTTGAAGCTGCCATCATCCTG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	82	88			NA	NA	14		NA											NA				24724683		2203	4300	6503	SO:0001583	missense			D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	7051	7051	2.3.2.13	Transglutaminases	11777	protein-coding gene	gene with protein product	K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase	190195	transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)	ICR2	NA	11390390	Standard	NM_000359	NM_000359	NA	Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.1532G>A	14.37:g.24724683C>T	ENSP00000206765:p.Gly511Asp	NA	Q197M4	37	CCDS9622.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870567	0.91587	.	.	ENSG00000092295	ENST00000206765;ENST00000544573	D;D	0.81996	-1.56;-1.56	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.90246	0.6950	M	0.66439	2.03	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.90846	0.4727	10	0.72032	D	0.01	-31.6259	16.9613	0.86273	0.0:1.0:0.0:0.0	.	511	P22735	TGM1_HUMAN	D	511;69	ENSP00000206765:G511D;ENSP00000439446:G69D	ENSP00000206765:G511D	G	-	2	0	TGM1	23794523	0.940000	0.31905	1.000000	0.80357	0.997000	0.91878	2.779000	0.47734	2.602000	0.87976	0.655000	0.94253	GGC	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000073160.6		-	ENST00000206765.6	Missense_Mutation	SNP	14 : 24724683 - 24724683 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	351	26
ARMC2	84071	broad.mit.edu	37	6	109220981	109220981	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109220981G>A	ENST00000392644.4	+	7	1001	c.833G>A	c.(832-834)cGt>cAt	p.R278H	ARMC2_ENST00000368972.3_Missense_Mutation_p.R113H	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	278							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		CCGATTTTGCGTGAATTAGAA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	0,4406		0,0,2203	52	54	53		833	-2.4	0.9	6		53	2,8598	2.2+/-6.3	0,2,4298	no	missense	ARMC2	NM_032131.4	29	0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154	benign	278/868	109220981	2,13004	2203	4300	6503	SO:0001583	missense			BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690	84071	84071		Armadillo repeat containing	23045	protein-coding gene	gene with protein product					NA		Standard	NM_032131	XM_005267154	NA	Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.833G>A	6.37:g.109220981G>A	ENSP00000376417:p.Arg278His	NA	A8K8Y4|Q5VVY8|Q9H0K9	37	CCDS5069.2	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.710046	0.00712	0.0	2.33E-4	ENSG00000118690	ENST00000368972;ENST00000392644	T;T	0.39406	1.08;1.08	5.65	-2.41	0.06562	Armadillo-like helical (1);	0.500152	0.23742	N	0.045015	T	0.02571	0.0078	N	0.00483	-1.445	0.21933	N	0.999467	B	0.02656	0.0	B	0.01281	0.0	T	0.43507	-0.9387	10	0.02654	T	1	.	12.4735	0.55799	0.5786:0.0:0.4214:0.0	.	278	Q8NEN0	ARMC2_HUMAN	H	113;278	ENSP00000357968:R113H;ENSP00000376417:R278H	ENSP00000357968:R113H	R	+	2	0	ARMC2	109327674	0.354000	0.24912	0.893000	0.35052	0.026000	0.11368	0.082000	0.14847	-0.289000	0.09038	-0.897000	0.02905	CGT	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041732.2		+	ENST00000392644.4	Missense_Mutation	SNP	6 : 109220981 - 109220981 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	137	23
TMPRSS11E	28983	broad.mit.edu	37	4	69344605	69344605	+	Missense_Mutation	SNP	C	C	T	rs138430854		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69344605C>T	ENST00000305363.4	+	9	1070	c.1006C>T	c.(1006-1008)Ctc>Ttc	p.L336F		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	336	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.L336F(1)		endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						ACAGGTGACTCTCATAGACGC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	skin(1)											161	154	157			NA	NA	4		NA											NA				69344605		2203	4300	6503	SO:0001583	missense			AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128	28983	28983		Serine peptidases / Transmembrane	24465	protein-coding gene	gene with protein product		610399	transmembrane protease, serine 11E2	TMPRSS11E2	NA	15328353	Standard	NM_014058	NM_014058	NA	Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.1006C>T	4.37:g.69344605C>T	ENSP00000307519:p.Leu336Phe	NA	A6NL71|Q14DC8|Q6UW31	37	CCDS33993.1	.	.	.	.	.	.	.	.	.	.	C	7.683	0.689438	0.14973	.	.	ENSG00000087128	ENST00000305363	D	0.90004	-2.6	5.31	0.312	0.15837	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.200210	0.06213	N	0.685374	D	0.87116	0.6097	M	0.76838	2.35	0.09310	N	0.999998	B	0.17667	0.023	B	0.19148	0.024	T	0.72836	-0.4172	10	0.56958	D	0.05	.	3.2715	0.06883	0.2626:0.3631:0.0:0.3743	.	336	Q9UL52	TM11E_HUMAN	F	336	ENSP00000307519:L336F	ENSP00000307519:L336F	L	+	1	0	TMPRSS11E	69027200	0.000000	0.05858	0.093000	0.20910	0.342000	0.28953	-0.337000	0.07852	0.316000	0.23135	0.655000	0.94253	CTC	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360584.1		+	ENST00000305363.4	Missense_Mutation	SNP	4 : 69344605 - 69344605 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	872	142
ACTL9	284382	broad.mit.edu	37	19	8808336	8808336	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8808336G>A	ENST00000324436.3	-	1	836	c.716C>T	c.(715-717)gCc>gTc	p.A239V		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	239						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GGGCAGGCCGGCCTGGAGCAG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	36	36			NA	NA	19		NA											NA				8808336		2203	4300	6503	SO:0001583	missense				CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786	284382	284382			28494	protein-coding gene	gene with protein product					NA		Standard	NM_178525	NM_178525	NA	Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.716C>T	19.37:g.8808336G>A	ENSP00000316674:p.Ala239Val	NA	A8K893|Q6X960	37	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	G	9.529	1.110203	0.20714	.	.	ENSG00000181786	ENST00000324436	D	0.94417	-3.42	4.77	4.77	0.60923	.	0.832480	0.09655	U	0.773177	D	0.91123	0.7205	L	0.42744	1.35	0.09310	N	1	B	0.17268	0.021	B	0.16289	0.015	T	0.82476	-0.0438	10	0.87932	D	0	.	7.3774	0.26835	0.1773:0.0:0.8227:0.0	.	239	Q8TC94	ACTL9_HUMAN	V	239	ENSP00000316674:A239V	ENSP00000316674:A239V	A	-	2	0	ACTL9	8669336	0.001000	0.12720	0.029000	0.17559	0.010000	0.07245	1.389000	0.34453	2.649000	0.89929	0.462000	0.41574	GCC	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459953.1		-	ENST00000324436.3	Missense_Mutation	SNP	19 : 8808336 - 8808336 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	312	60
LRRC27	80313	broad.mit.edu	37	10	134161812	134161812	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134161812C>T	ENST00000368614.3	+	6	983	c.878C>T	c.(877-879)gCg>gTg	p.A293V	LRRC27_ENST00000368615.3_Missense_Mutation_p.A293V|LRRC27_ENST00000432555.2_Missense_Mutation_p.A166V|LRRC27_ENST00000344079.5_Missense_Mutation_p.A293V|LRRC27_ENST00000368613.4_Missense_Mutation_p.A293V|LRRC27_ENST00000392638.2_Missense_Mutation_p.A293V|LRRC27_ENST00000368610.3_Missense_Mutation_p.A231V|LRRC27_ENST00000368612.1_Missense_Mutation_p.A231V	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	293										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AATCTCAAGGCGGCCTTGAAC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	83	85			NA	NA	10		NA											NA				134161812		2203	4300	6503	SO:0001583	missense			AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814	80313	80313			29346	protein-coding gene	gene with protein product					NA	11214970	Standard	XM_290462	NM_030626	NA	Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.878C>T	10.37:g.134161812C>T	ENSP00000357603:p.Ala293Val	NA	A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	37	CCDS31316.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.76|11.76	1.733321|1.733321	0.30684|0.30684	.|.	.|.	ENSG00000148814|ENSG00000148814	ENST00000368615;ENST00000392638;ENST00000344079;ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610;ENST00000432555|ENST00000450442	T;T;T;T;T;T;T;T|.	0.48836|.	2.51;2.44;2.44;2.4;2.4;4.16;4.16;0.8|.	4.01|4.01	2.09|2.09	0.27110|0.27110	.|.	0.228756|.	0.27787|.	N|.	0.017860|.	T|T	0.27489|0.27489	0.0675|0.0675	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B;D;B;B;B|.	0.65815|.	0.032;0.995;0.141;0.033;0.131|.	B;P;B;B;B|.	0.59357|.	0.018;0.856;0.042;0.012;0.018|.	T|T	0.19289|0.19289	-1.0310|-1.0310	10|5	0.45353|.	T|.	0.12|.	-12.7724|-12.7724	4.1531|4.1531	0.10247|0.10247	0.233:0.6465:0.0:0.1206|0.233:0.6465:0.0:0.1206	.|.	293;166;231;293;293|.	Q9C0I9-4;B4DW88;Q9C0I9-2;Q9C0I9;Q9C0I9-3|.	.;.;.;LRC27_HUMAN;.|.	V|W	293;293;293;293;293;231;231;166|245	ENSP00000357604:A293V;ENSP00000376413:A293V;ENSP00000342641:A293V;ENSP00000357603:A293V;ENSP00000357602:A293V;ENSP00000357601:A231V;ENSP00000357599:A231V;ENSP00000407949:A166V|.	ENSP00000342641:A293V|.	A|R	+|+	2|1	0|2	LRRC27|LRRC27	134011802|134011802	0.003000|0.003000	0.15002|0.15002	0.128000|0.128000	0.21923|0.21923	0.082000|0.082000	0.17680|0.17680	0.114000|0.114000	0.15520|0.15520	0.964000|0.964000	0.38108|0.38108	0.591000|0.591000	0.81541|0.81541	GCG|CGG	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051058.2		+	ENST00000368614.3	Missense_Mutation	SNP	10 : 134161812 - 134161812 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	699	130
SPTBN5	51332	broad.mit.edu	37	15	42162667	42162667	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42162667A>G	ENST00000320955.6	-	30	5766	c.5539T>C	c.(5539-5541)Ttg>Ctg	p.L1847L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1847					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		AGGACTTCCAAGAGATCTCTG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	75	73			NA	NA	15		NA											NA				42162667		2030	4182	6212	SO:0001819	synonymous_variant			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877	51332	51332			15680	protein-coding gene	gene with protein product	beta V spectrin	605916			NA	10764729	Standard	NM_016642	NM_016642	NA	Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.5539T>C	15.37:g.42162667A>G		NA		37																																																																																				SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000420237.1		-	ENST00000320955.6	Silent	SNP	15 : 42162667 - 42162667 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	256	31
ARHGAP17	55114	broad.mit.edu	37	16	24946886	24946886	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24946886C>T	ENST00000289968.6	-	18	1868	c.1799G>A	c.(1798-1800)gGc>gAc	p.G600D	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.G522D	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	600	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CTGATTTTGGCCAGATGCTAT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	79	81			NA	NA	16		NA											NA				24946886		2197	4300	6497	SO:0001583	missense			AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750	55114	55114		Rho GTPase activating proteins	18239	protein-coding gene	gene with protein product		608293			NA	10967100, 11431473	Standard	NM_018054	XM_005255413	NA	Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.1799G>A	16.37:g.24946886C>T	ENSP00000289968:p.Gly600Asp	NA	A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	37	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.524083	0.44866	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	T;T	0.22945	1.93;1.96	5.3	4.32	0.51571	.	0.158822	0.29579	N	0.011758	T	0.41026	0.1141	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.89917	0.998;0.966;0.999;1.0	P;P;D;D	0.70016	0.876;0.598;0.967;0.957	T	0.19095	-1.0316	10	0.16420	T	0.52	.	10.8375	0.46696	0.1965:0.8035:0.0:0.0	.	522;600;133;433	Q68EM7-2;Q68EM7;Q68EM7-7;B4DWE9	.;RHG17_HUMAN;.;.	D	600;522;600	ENSP00000289968:G600D;ENSP00000303130:G522D	ENSP00000289968:G600D	G	-	2	0	ARHGAP17	24854387	0.786000	0.28738	0.719000	0.30619	0.112000	0.19704	1.485000	0.35519	1.172000	0.42781	0.655000	0.94253	GGC	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000436548.3		-	ENST00000289968.6	Missense_Mutation	SNP	16 : 24946886 - 24946886 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	180	18
EMC1	23065	broad.mit.edu	37	1	19545802	19545802	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19545802G>A	ENST00000477853.1	-	23	3019	c.2977C>T	c.(2977-2979)Cga>Tga	p.R993*	RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Nonsense_Mutation_p.R971*|EMC1_ENST00000375199.3_Nonsense_Mutation_p.R992*|EMC1_ENST00000480380.1_5'UTR	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1			ER membrane protein complex subunit 1	NA											NA						GTTCTTTATCGCCAGGCCCGA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	67	68			NA	NA	1		NA											NA				19545802		2203	4300	6503	SO:0001587	stop_gained				CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463	23065	23065			28957	protein-coding gene	gene with protein product			KIAA0090	KIAA0090	NA	22119785	Standard	NM_015047	NM_015047	NA	Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.2977C>T	1.37:g.19545802G>A	ENSP00000420608:p.Arg993*	NA		37	CCDS190.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.370882|7.370882	0.98241|0.98241	.|.	.|.	ENSG00000127463|ENSG00000127463	ENST00000375197|ENST00000477853;ENST00000375199;ENST00000375208	.|.	.|.	.|.	6.06|6.06	4.12|4.12	0.48240|0.48240	.|.	.|0.049774	.|0.85682	.|D	.|0.000000	T|.	0.49372|.	0.1553|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.27905|.	-1.0060|.	4|.	.|0.11794	.|T	.|0.64	.|.	12.0734|12.0734	0.53630|0.53630	0.0:0.1312:0.7322:0.1365|0.0:0.1312:0.7322:0.1365	.|.	.|.	.|.	.|.	V|X	617|993;992;971	.|.	.|ENSP00000364345:R992X	A|R	-|-	2|1	0|2	KIAA0090|KIAA0090	19418389|19418389	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.973000|0.973000	0.67179|0.67179	5.288000|5.288000	0.65651|0.65651	0.823000|0.823000	0.34589|0.34589	0.650000|0.650000	0.86243|0.86243	GCG|CGA	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007076.2		-	ENST00000477853.1	Nonsense_Mutation	SNP	1 : 19545802 - 19545802 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	273	62
SEPT5	5413	broad.mit.edu	37	22	19709380	19709380	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19709380C>T	ENST00000438754.2	+	9	1146	c.866C>T	c.(865-867)gCg>gTg	p.A289V	SEPT5_ENST00000455784.2_Missense_Mutation_p.R284C|SEPT5_ENST00000383045.3_Missense_Mutation_p.R293C|SEPT5_ENST00000406395.1_Missense_Mutation_p.A280V	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN	septin 5	210					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CGTGAAGCTGCGCAACATGCT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	58	60			NA	NA	22		NA											NA				19709380		2203	4299	6502	SO:0001583	missense			Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702	5413	5413		Septins	9164	protein-coding gene	gene with protein product		602724	peanut-like 1 (Drosophila)	PNUTL1	NA	9385360, 9611266	Standard	NM_002688	NM_002688	NA	Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000438754.2:c.866C>T	22.37:g.19709380C>T	ENSP00000394541:p.Ala289Val	NA	O15251	37	CCDS56224.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.3|25.3	4.627026|4.627026	0.87560|0.87560	.|.	.|.	ENSG00000184702|ENSG00000184702	ENST00000406395;ENST00000438754|ENST00000455784;ENST00000412544;ENST00000383045	T;T|T;T;T	0.51325|0.60299	0.71;0.71|0.2;0.2;0.2	3.82|3.82	0.147|0.147	0.14838|0.14838	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.81370|0.81370	0.4808|0.4808	H|H	0.96805|0.96805	3.885|3.885	0.23720|0.23720	N|N	0.997024|0.997024	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.74740|0.74740	-0.3563|-0.3563	7|10	0.54805|0.87932	T|D	0.06|0	.|.	12.3196|12.3196	0.54977|0.54977	0.5861:0.4139:0.0:0.0|0.5861:0.4139:0.0:0.0	.|.	.|284	.|Q99719	.|SEPT5_HUMAN	V|C	280;289|284;237;293	ENSP00000384535:A280V;ENSP00000394541:A289V|ENSP00000391311:R284C;ENSP00000408678:R237C;ENSP00000372515:R293C	ENSP00000384535:A280V|ENSP00000372515:R293C	A|R	+|+	2|1	0|0	SEPT5|SEPT5	18089380|18089380	0.999000|0.999000	0.42202|0.42202	0.780000|0.780000	0.31762|0.31762	0.991000|0.991000	0.79684|0.79684	0.891000|0.891000	0.28309|0.28309	0.026000|0.026000	0.15269|0.15269	0.478000|0.478000	0.44815|0.44815	GCG|CGC	SEPT5-002	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317938.5		+	ENST00000438754.2	Missense_Mutation	SNP	22 : 19709380 - 19709380 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	87
TMEM175	84286	broad.mit.edu	37	4	952124	952124	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:952124A>G	ENST00000264771.4	+	11	1540	c.1355A>G	c.(1354-1356)cAg>cGg	p.Q452R	TMEM175_ENST00000515740.1_Missense_Mutation_p.Q336R|TMEM175_ENST00000508204.1_Missense_Mutation_p.Q370R	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	452						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CACCTCATGCAGATCGCCGTG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	52	52			NA	NA	4		NA											NA				952124		2203	4300	6503	SO:0001583	missense			BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419	84286	84286			28709	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_032326	XM_005272301	NA	Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.1355A>G	4.37:g.952124A>G	ENSP00000264771:p.Gln452Arg	NA	D3DVN4|Q8ND13	37	CCDS3341.1	.	.	.	.	.	.	.	.	.	.	A	13.62	2.292900	0.40594	.	.	ENSG00000127419	ENST00000264771;ENST00000515740;ENST00000508204	T;T;T	0.48522	1.43;1.4;0.81	5.05	5.05	0.67936	.	0.069000	0.64402	D	0.000013	T	0.49115	0.1538	M	0.66939	2.045	0.35427	D	0.793693	P;D	0.53151	0.919;0.958	B;P	0.47528	0.395;0.549	T	0.58618	-0.7605	10	0.17832	T	0.49	-4.8199	11.1651	0.48539	1.0:0.0:0.0:0.0	.	370;452	D3DVN5;Q9BSA9	.;TM175_HUMAN	R	452;336;370	ENSP00000264771:Q452R;ENSP00000427039:Q336R;ENSP00000423669:Q370R	ENSP00000264771:Q452R	Q	+	2	0	TMEM175	942124	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	6.677000	0.74503	1.897000	0.54924	0.402000	0.26972	CAG	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239193.2		+	ENST00000264771.4	Missense_Mutation	SNP	4 : 952124 - 952124 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	393	65
CDH26	60437	broad.mit.edu	37	20	58569416	58569416	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58569416C>T	ENST00000348616.4	+	11	1838	c.1538C>T	c.(1537-1539)gCt>gTt	p.A513V	CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000244047.5_Missense_Mutation_p.A513V	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	513					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TGTGAGTCTGCTGTGCATGAG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	76	79			NA	NA	20		NA											NA				58569416		2203	4300	6503	SO:0001583	missense			AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215	60437	60437		Cadherins / Major cadherins	15902	protein-coding gene	gene with protein product			cadherin-like 26		NA		Standard	NM_177980	NM_177980	NA	Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000348616.4:c.1538C>T	20.37:g.58569416C>T	ENSP00000339390:p.Ala513Val	NA	A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	37	CCDS13485.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429050	0.43122	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.61392	0.11;0.11	4.58	1.06	0.20224	Cadherin-like (2);	0.881551	0.09841	N	0.748865	T	0.50086	0.1595	M	0.66939	2.045	0.09310	N	1	B;B	0.29612	0.251;0.22	B;B	0.29524	0.07;0.103	T	0.44787	-0.9305	10	0.40728	T	0.16	.	3.5879	0.07978	0.2297:0.5454:0.1225:0.1023	.	513;513	Q8IXH8;Q8IXH8-4	CAD26_HUMAN;.	V	513	ENSP00000244047:A513V;ENSP00000339390:A513V	ENSP00000244047:A513V	A	+	2	0	CDH26	58002811	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.409000	0.21082	0.341000	0.23771	0.655000	0.94253	GCT	CDH26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079933.2		+	ENST00000348616.4	Missense_Mutation	SNP	20 : 58569416 - 58569416 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	54
STX3	6809	broad.mit.edu	37	11	59560891	59560891	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59560891G>A	ENST00000337979.4	+	8	1126	c.579G>A	c.(577-579)gaG>gaA	p.E193E	STX3_ENST00000300150.7_Silent_p.E162E|STX3_ENST00000437946.2_Silent_p.E96E|STX3_ENST00000535361.1_Silent_p.E193E|STX3_ENST00000529177.1_Silent_p.E193E	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	193	t-SNARE coiled-coil homology.				cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						CCCTCAGTGAGATTGAGGGAC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	92	100			NA	NA	11		NA											NA				59560891		2201	4295	6496	SO:0001819	synonymous_variant			AJ002076	CCDS7975.1, CCDS53637.1	11q12.1	2008-02-05	2006-04-25	2006-04-25	ENSG00000166900	ENSG00000166900	6809	6809			11438	protein-coding gene	gene with protein product		600876	syntaxin 3A	STX3A	NA	16598260, 16339081	Standard	NM_004177	NM_004177	NA	Approved		uc001nog.3	Q13277	OTTHUMG00000167353	ENST00000337979.4:c.579G>A	11.37:g.59560891G>A		NA	O43750|O43751|Q15360	37	CCDS7975.1																																																																																			STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394264.1		+	ENST00000337979.4	Silent	SNP	11 : 59560891 - 59560891 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	291	30
GK2	2712	broad.mit.edu	37	4	80328744	80328744	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:80328744C>A	ENST00000358842.3	-	1	628	c.611G>T	c.(610-612)aGg>aTg	p.R204M		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	204					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AAGCATTGTCCTACTTGCATT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	90	90			NA	NA	4		NA											NA				80328744		2203	4300	6503	SO:0001583	missense			BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475	2712	2712		Glycerol kinases	4291	protein-coding gene	gene with protein product		600148	glycerol kinase pseudogene 2	GKP2	NA	7987308	Standard	NM_033214	NM_033214	NA	Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.611G>T	4.37:g.80328744C>A	ENSP00000351706:p.Arg204Met	NA	A8K876|Q6PD73|Q86XV8	37	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416965	0.42918	.	.	ENSG00000196475	ENST00000358842	T	0.50548	0.74	3.92	3.92	0.45320	Carbohydrate kinase, FGGY, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79305	0.4423	H	0.98089	4.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86724	0.1944	10	0.87932	D	0	-2.7747	14.2359	0.65927	0.0:1.0:0.0:0.0	.	204	Q14410	GLPK2_HUMAN	M	204	ENSP00000351706:R204M	ENSP00000351706:R204M	R	-	2	0	GK2	80547768	1.000000	0.71417	0.188000	0.23233	0.215000	0.24574	7.259000	0.78381	2.496000	0.84212	0.585000	0.79938	AGG	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252517.2		-	ENST00000358842.3	Missense_Mutation	SNP	4 : 80328744 - 80328744 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	561	78
SLC9A6	10479	broad.mit.edu	37	X	135095513	135095513	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135095513G>A	ENST00000370695.4	+	9	1188	c.1153G>A	c.(1153-1155)Gtt>Att	p.V385I	SLC9A6_ENST00000370701.1_Missense_Mutation_p.V333I|SLC9A6_ENST00000370698.3_Missense_Mutation_p.V353I	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	353					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TATAGGTGTAGTTGCAGTATT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													192	165	174			NA	NA	X		NA											NA				135095513		2203	4300	6503	SO:0001583	missense			AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689	10479	10479		Solute carriers	11079	protein-coding gene	gene with protein product		300231	solute carrier family 9 (sodium/hydrogen exchanger), isoform 6, solute carrier family 9 (sodium/hydrogen exchanger), member 6		NA	9507001	Standard	NM_006359	NM_001042537	NA	Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370695.4:c.1153G>A	X.37:g.135095513G>A	ENSP00000359729:p.Val385Ile	NA	Q5JPP9	37	CCDS44003.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911918	0.92178	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.15139	2.45;2.45;2.45	5.71	5.71	0.89125	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.43055	0.1230	M	0.70787	2.145	0.80722	D	1	P;D	0.71674	0.815;0.998	P;D	0.70935	0.551;0.971	T	0.33085	-0.9882	10	0.87932	D	0	.	17.7295	0.88373	0.0:0.0:1.0:0.0	.	385;353	Q92581-2;Q92581	.;SL9A6_HUMAN	I	333;353;385	ENSP00000359735:V333I;ENSP00000359732:V353I;ENSP00000359729:V385I	ENSP00000359729:V385I	V	+	1	0	SLC9A6	134923179	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.423000	0.97461	2.405000	0.81733	0.513000	0.50165	GTT	SLC9A6-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058451.1		+	ENST00000370695.4	Missense_Mutation	SNP	X : 135095513 - 135095513 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	460	126
C9orf96	0	broad.mit.edu	37	9	136260729	136260729	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136260729C>T	ENST00000371957.3	+	9	812	c.705C>T	c.(703-705)ggC>ggT	p.G235G	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	SGK71_HUMAN		235	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CCGTGCAGGGCACAGAAGCCA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	59	59			NA	NA	9		NA											NA				136260729		2203	4300	6503	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000371957.3:c.705C>T	9.37:g.136260729C>T		NA	Q5T8U8|Q6ZMP6|Q6ZMQ5	37	CCDS35169.1																																																																																			C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054855.1		+	ENST00000371957.3	Silent	SNP	9 : 136260729 - 136260729 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	268	37
PYROXD2	84795	broad.mit.edu	37	10	100152291	100152291	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100152291G>A	ENST00000370575.4	-	10	1008	c.960C>T	c.(958-960)ggC>ggT	p.G320G	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	320							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CTTGAACACAGCCTTCACTGT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													234	158	184			NA	NA	10		NA											NA				100152291		2203	4300	6503	SO:0001819	synonymous_variant			AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943	84795	84795			23517	protein-coding gene	gene with protein product			chromosome 10 open reading frame 33	C10orf33	NA		Standard	NM_032709	NM_032709	NA	Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.960C>T	10.37:g.100152291G>A		NA	D3DR61|Q5TAA9|Q9BRQ1	37	CCDS7474.1																																																																																			PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049782.2		-	ENST00000370575.4	Silent	SNP	10 : 100152291 - 100152291 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	372	66
UFC1	51506	broad.mit.edu	37	1	161123792	161123792	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161123792C>T	ENST00000368003.5	+	1	251	c.5C>T	c.(4-6)gCg>gTg	p.A2V	RP11-297K8.2_ENST00000420498.1_RNA|UFC1_ENST00000473766.1_3'UTR	NM_016406.3	NP_057490.2	Q9Y3C8	UFC1_HUMAN	ubiquitin-fold modifier conjugating enzyme 1	2					protein ufmylation		protein binding|UFM1 conjugating enzyme activity			endometrium(1)|lung(9)	10	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TCCAAGATGGCGGATGAAGCC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	85	89			NA	NA	1		NA											NA				161123792		2203	4300	6503	SO:0001583	missense			AF161504	CCDS1220.1	1q23.3	2008-02-05			ENSG00000143222	ENSG00000143222	51506	51506			26941	protein-coding gene	gene with protein product		610554			NA	15071506, 11042152	Standard	NM_016406	NM_016406	NA	Approved	HSPC155	uc001fyd.4	Q9Y3C8	OTTHUMG00000033155	ENST00000368003.5:c.5C>T	1.37:g.161123792C>T	ENSP00000356982:p.Ala2Val	NA	A8K9R1|D3DVF9|Q549X0|Q5VTX1|Q9BS96|Q9P009	37	CCDS1220.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368124	0.42003	.	.	ENSG00000143222	ENST00000368003	T	0.38722	1.12	5.98	5.07	0.68467	.	0.061965	0.64402	D	0.000006	T	0.02649	0.0080	N	0.00162	-1.95	0.49582	D	0.999807	B	0.06786	0.001	B	0.01281	0.0	T	0.45440	-0.9261	10	0.02654	T	1	-14.3177	9.4486	0.38712	0.1438:0.7842:0.0:0.072	.	2	Q9Y3C8	UFC1_HUMAN	V	2	ENSP00000356982:A2V	ENSP00000356982:A2V	A	+	2	0	UFC1	159390416	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	4.058000	0.57463	1.552000	0.49463	-0.154000	0.13518	GCG	UFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080810.1		+	ENST00000368003.5	Missense_Mutation	SNP	1 : 161123792 - 161123792 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	348	57
BSX	390259	broad.mit.edu	37	11	122848534	122848534	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122848534T>C	ENST00000343035.2	-	3	573	c.525A>G	c.(523-525)gaA>gaG	p.E175E		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	175										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		GTGCTTTGGGTTCGTCTTGGC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	64	63			NA	NA	11		NA											NA				122848534		1894	4126	6020	SO:0001819	synonymous_variant				CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909	390259	390259		Homeoboxes / ANTP class : NKL subclass	20450	protein-coding gene	gene with protein product		611074			NA		Standard	NM_001098169	NM_001098169	NA	Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.525A>G	11.37:g.122848534T>C		NA		37	CCDS41728.1																																																																																			BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317076.1		-	ENST00000343035.2	Silent	SNP	11 : 122848534 - 122848534 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	71
KIAA1468	57614	broad.mit.edu	37	18	59966089	59966089	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:59966089C>T	ENST00000256858.6	+	29	3876	c.3628C>T	c.(3628-3630)Caa>Taa	p.Q1210*	KIAA1468_ENST00000398130.2_Nonsense_Mutation_p.Q1176*			Q9P260	K1468_HUMAN	KIAA1468	1176							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				CCAAGAGCCTCAAGGGTAAGA	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	67	66			NA	NA	18		NA											NA				59966089		2203	4299	6502	SO:0001587	stop_gained			BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444	57614	57614			29289	protein-coding gene	gene with protein product					NA	11973628	Standard	NM_020854	NM_020854	NA	Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000256858.6:c.3628C>T	18.37:g.59966089C>T	ENSP00000256858:p.Gln1210*	NA		37		.	.	.	.	.	.	.	.	.	.	C	44	10.535140	0.99423	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	.	.	.	5.46	5.46	0.80206	.	0.109052	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.4767	19.6622	0.95877	0.0:1.0:0.0:0.0	.	.	.	.	X	1176;1210	.	.	Q	+	1	0	KIAA1468	58117069	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.354000	0.79424	2.707000	0.92482	0.557000	0.71058	CAA	KIAA1468-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000450035.1		+	ENST00000256858.6	Nonsense_Mutation	SNP	18 : 59966089 - 59966089 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	194	31
HSPA8	3312	broad.mit.edu	37	11	122930388	122930388	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122930388G>T	ENST00000532636.1	-	5	1032	c.913C>A	c.(913-915)Ctg>Atg	p.L305M	HSPA8_ENST00000534319.1_Missense_Mutation_p.L69M|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000227378.3_Missense_Mutation_p.L305M|HSPA8_ENST00000526110.1_Missense_Mutation_p.L286M|HSPA8_ENST00000534624.1_Missense_Mutation_p.L305M|HSPA8_ENST00000533540.1_Missense_Mutation_p.L159M|HSPA8_ENST00000453788.2_Missense_Mutation_p.L305M			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	305	Interaction with BAG1.				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TCAGCATTCAGTTCTTCAAAT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(21;486 594 5900 6733 14272)							NA				0													48	50	49			NA	NA	11		NA											NA				122930388		2202	4299	6501	SO:0001583	missense			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971	3312	3312		Heat shock proteins / HSP70	5241	protein-coding gene	gene with protein product		600816	heat shock 70kD protein 8	HSPA10	NA	8530083, 3037489	Standard		NM_006597	NA	Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.913C>A	11.37:g.122930388G>T	ENSP00000437125:p.Leu305Met	NA	Q9H3R6	37	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	A	15.75	2.926013	0.52759	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000528292	T;T;T;T;T;T;T;T	0.01838	4.61;4.61;4.61;4.61;4.61;4.61;4.61;4.61	4.65	0.489	0.16854	.	0.166857	0.38778	N	0.001580	T	0.08626	0.0214	M	0.69523	2.12	0.80722	D	1	P;D;D;P	0.69078	0.877;0.997;0.997;0.877	P;D;D;P	0.75020	0.553;0.985;0.974;0.553	T	0.01349	-1.1378	10	0.56958	D	0.05	-13.7035	9.267	0.37647	0.3321:0.0:0.6679:0.0	.	305;305;305;305	Q53GZ6;E7ET08;P11142-2;P11142	.;.;.;HSP7C_HUMAN	M	305;159;305;305;305;69;286;245	ENSP00000437125:L305M;ENSP00000437189:L159M;ENSP00000432083:L305M;ENSP00000404372:L305M;ENSP00000227378:L305M;ENSP00000433316:L69M;ENSP00000433584:L286M;ENSP00000432884:L245M	ENSP00000227378:L305M	L	-	1	2	HSPA8	122435598	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	2.041000	0.41213	-0.027000	0.13873	-0.369000	0.07265	CTG	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387515.1		-	ENST00000532636.1	Missense_Mutation	SNP	11 : 122930388 - 122930388 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	48
KIF1A	547	broad.mit.edu	37	2	241666339	241666339	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241666339C>A	ENST00000320389.7	-	37	3881	c.3723G>T	c.(3721-3723)gaG>gaT	p.E1241D	KIF1A_ENST00000498729.2_Missense_Mutation_p.E1342D	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1241					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCCACGCAGCCTCAAATTGGT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	54	53			NA	NA	2		NA											NA				241666339		2044	4219	6263	SO:0001583	missense			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294	547	547		Kinesins, Pleckstrin homology (PH) domain containing	888	protein-coding gene	gene with protein product		601255	axonal transport of synaptic vesicles, chromosome 2 open reading frame 20, spastic paraplegia 30 (autosomal recessive)	ATSV, C2orf20, SPG30	NA	7539720, 10323250, 22258533	Standard	NM_138483	NM_001244008	NA	Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.3723G>T	2.37:g.241666339C>A	ENSP00000322791:p.Glu1241Asp	NA	O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	37	CCDS46561.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.58|17.58	3.425037|3.425037	0.62733|0.62733	.|.	.|.	ENSG00000130294|ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283|ENST00000431776	T;T;T|.	0.75589|.	-0.81;-0.89;-0.95|.	4.62|4.62	-0.146|-0.146	0.13432|0.13432	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.69342|0.69342	0.3100|0.3100	M|M	0.78456|0.78456	2.415|2.415	0.45227|0.45227	D|D	0.998237|0.998237	B;B;P|.	0.43431|.	0.149;0.05;0.807|.	B;B;B|.	0.41946|.	0.109;0.041;0.371|.	T|T	0.67593|0.67593	-0.5631|-0.5631	10|5	0.46703|.	T|.	0.11|.	.|.	9.9148|9.9148	0.41427|0.41427	0.0:0.5485:0.0:0.4515|0.0:0.5485:0.0:0.4515	.|.	1342;1350;1241|.	F5H045;Q12756-2;Q12756|.	.;.;KIF1A_HUMAN|.	D|M	1241;1342;1350;1350|174	ENSP00000322791:E1241D;ENSP00000438388:E1342D;ENSP00000384231:E1350D|.	ENSP00000322791:E1241D|.	E|R	-|-	3|2	2|0	KIF1A|KIF1A	241315012|241315012	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.756000|0.756000	0.42949|0.42949	1.795000|1.795000	0.38784|0.38784	0.056000|0.056000	0.16144|0.16144	-0.237000|-0.237000	0.12165|0.12165	GAG|AGG	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324536.3		-	ENST00000320389.7	Missense_Mutation	SNP	2 : 241666339 - 241666339 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	107	26
GDF5	8200	broad.mit.edu	37	20	34025405	34025405	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34025405C>T	ENST00000374372.1	-	3	807	c.304G>A	c.(304-306)Ggc>Agc	p.G102S	GDF5_ENST00000374369.3_Missense_Mutation_p.G102S			P43026	GDF5_HUMAN	growth differentiation factor 5	102					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TCAGGGCCGCCCGGTCTGGGG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	46	44			NA	NA	20		NA											NA				34025405		2203	4300	6503	SO:0001583	missense			X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965	8200	8200			4220	protein-coding gene	gene with protein product	cartilage-derived morphogenetic protein-1	601146			NA	9288091, 9288098	Standard		NM_000557	NA	Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.304G>A	20.37:g.34025405C>T	ENSP00000363492:p.Gly102Ser	NA	E1P5Q2|Q96SB1	37	CCDS13254.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.280357	0.23392	.	.	ENSG00000125965	ENST00000374369;ENST00000374372	T;T	0.28454	1.61;1.61	4.39	4.39	0.52855	.	1.770760	0.03377	N	0.199874	T	0.30039	0.0752	N	0.24115	0.695	0.22858	N	0.998645	B;B	0.21520	0.057;0.057	B;B	0.12837	0.008;0.008	T	0.37619	-0.9698	10	0.49607	T	0.09	.	17.1029	0.86654	0.0:1.0:0.0:0.0	.	102;102	F1T0J1;P43026	.;GDF5_HUMAN	S	102	ENSP00000363489:G102S;ENSP00000363492:G102S	ENSP00000363489:G102S	G	-	1	0	GDF5	33488819	0.830000	0.29337	0.996000	0.52242	0.169000	0.22640	1.837000	0.39201	2.256000	0.74724	0.313000	0.20887	GGC	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078875.2		-	ENST00000374372.1	Missense_Mutation	SNP	20 : 34025405 - 34025405 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	71
GDI1	2664	broad.mit.edu	37	X	153668321	153668321	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153668321G>A	ENST00000447750.2	+	5	757	c.422G>A	c.(421-423)cGc>cAc	p.R141H		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	141					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGGCGCTTCCGCAAGTTCCTG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													290	274	279			NA	NA	X		NA											NA				153668321		2203	4300	6503	SO:0001583	missense			X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879	2664	2664			4226	protein-coding gene	gene with protein product	mental retardation, X-linked 41, mental retardation, X-linked 48, rab GDP-dissociation inhibitor, alpha	300104		MRX48, MRX41, GDIL	NA	7543319, 7849400	Standard	NM_001493	NM_001493	NA	Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.422G>A	X.37:g.153668321G>A	ENSP00000394071:p.Arg141His	NA	P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	37	CCDS35452.1	.	.	.	.	.	.	.	.	.	.	G	32	5.179100	0.94846	.	.	ENSG00000203879	ENST00000447750	T	0.59638	0.25	4.92	4.92	0.64577	.	0.054305	0.64402	D	0.000001	T	0.73806	0.3634	M	0.82517	2.595	0.80722	D	1	D;B	0.64830	0.994;0.25	P;B	0.59056	0.851;0.02	T	0.78214	-0.2291	10	0.59425	D	0.04	-24.8804	14.3722	0.66849	0.0:0.0:1.0:0.0	.	141;141	B4DH24;P31150	.;GDIA_HUMAN	H	141	ENSP00000394071:R141H	ENSP00000394071:R141H	R	+	2	0	GDI1	153321515	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.595000	0.98260	2.265000	0.75225	0.600000	0.82982	CGC	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000081649.2		+	ENST00000447750.2	Missense_Mutation	SNP	X : 153668321 - 153668321 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1672	525
AMFR	267	broad.mit.edu	37	16	56437031	56437031	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56437031C>T	ENST00000290649.5	-	7	1051		c.e7-1			NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	NA					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TGCCAAATAACTTAGAGAGAA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(2;144 323 39528)							NA				0													89	74	79			NA	NA	16		NA											NA				56437031		2198	4300	6498	SO:0001630	splice_region_variant			L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461	267	267		RING-type (C3HC4) zinc fingers	463	protein-coding gene	gene with protein product		603243	autocrine motility factor receptor		NA	1649192	Standard		NM_001144	NA	Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.841-1G>A	16.37:g.56437031C>T		NA	Q8IZ70	37	CCDS10758.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049295	0.75846	.	.	ENSG00000159461	ENST00000290649	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2448	0.93898	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AMFR	54994532	1.000000	0.71417	0.995000	0.50966	0.949000	0.60115	7.770000	0.85390	2.540000	0.85666	0.650000	0.86243	.	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256978.2	Intron	-	ENST00000290649.5	Splice_Site	SNP	16 : 56437031 - 56437031 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	384	62
CTC1	80169	broad.mit.edu	37	17	8131635	8131635	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8131635G>A	ENST00000315684.8	-	23	3524	c.3517C>T	c.(3517-3519)Cct>Tct	p.P1173S		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	1173					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						AGCCGAGGAGGTTCTGAGGTG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	83	80			NA	NA	17		NA											NA				8131635		2034	4181	6215	SO:0001583	missense			AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971	80169	80169			26169	protein-coding gene	gene with protein product	conserved telomere maintenance component 1, alpha accessory factor 132, conserved telomere capping protein 1	613129	tmp494178, chromosome 17 open reading frame 68	C17orf68	NA	19854130, 19854131	Standard	NM_025099	NM_025099	NA	Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.3517C>T	17.37:g.8131635G>A	ENSP00000313759:p.Pro1173Ser	NA	B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	37	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625210	0.46840	.	.	ENSG00000178971	ENST00000315684	D	0.83591	-1.74	5.91	0.0505	0.14293	.	0.553725	0.20157	N	0.098037	T	0.71719	0.3373	L	0.55103	1.725	0.27922	N	0.938214	B	0.16802	0.019	B	0.14023	0.01	T	0.57619	-0.7780	10	0.35671	T	0.21	-2.4118	1.6564	0.02782	0.243:0.1412:0.4705:0.1454	.	1173	Q2NKJ3	CTC1_HUMAN	S	1173	ENSP00000313759:P1173S	ENSP00000313759:P1173S	P	-	1	0	CTC1	8072360	0.998000	0.40836	0.968000	0.41197	0.854000	0.48673	0.865000	0.27940	0.392000	0.25172	0.655000	0.94253	CCT	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442012.1		-	ENST00000315684.8	Missense_Mutation	SNP	17 : 8131635 - 8131635 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	581	118
ACSF3	197322	broad.mit.edu	37	16	89167209	89167209	+	Silent	SNP	G	G	A	rs34972688		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89167209G>A	ENST00000378345.4	+	2	95				ACSF3_ENST00000406948.3_Silent_p.S40S|ACSF3_ENST00000317447.4_Silent_p.S40S			Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	NA					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		TGGCCCGCTCGGACAGGAGCG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	27	26			NA	NA	16		NA											NA				89167209		2196	4297	6493	SO:0001627	intron_variant			AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715	197322	197322		Acyl-CoA synthetase family	27288	protein-coding gene	gene with protein product	malonyl-CoA synthetase	614245			NA	17762044, 21846720	Standard	NM_174917	XM_005256293	NA	Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000378345.4:c.-129-1803G>A	16.37:g.89167209G>A		NA	A8K4J8|C9JQL6|Q6INA0|Q8N2F7	37																																																																																				ACSF3-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000395755.1		+	ENST00000378345.4	Intron	SNP	16 : 89167209 - 89167209 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	74
POLG	5428	broad.mit.edu	37	15	89873447	89873447	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89873447C>T	ENST00000268124.5	-	3	1053	c.720G>A	c.(718-720)tcG>tcA	p.S240S	POLG_ENST00000442287.2_Silent_p.S240S	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	240					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GGTCAGCCGGCGACAGCTGGC	0.612		NA						DNA polymerases (catalytic subunits)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(73;648 1203 11348 18386 27782)							NA				0													40	39	39			NA	NA	15		NA											NA				89873447		2200	4299	6499	SO:0001819	synonymous_variant			X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521	5428	5428		DNA polymerases	9179	protein-coding gene	gene with protein product		174763			NA	9465903	Standard	NM_002693	NM_002693	NA	Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.720G>A	15.37:g.89873447C>T		NA	Q8NFM2|Q92515	37	CCDS10350.1																																																																																			POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000312854.2		-	ENST00000268124.5	Silent	SNP	15 : 89873447 - 89873447 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	287	20
ZKSCAN2	342357	broad.mit.edu	37	16	25255541	25255541	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25255541G>A	ENST00000328086.7	-	6	2349	c.1546C>T	c.(1546-1548)Cgg>Tgg	p.R516W		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	516					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TCATAAAACCGAGTCTCACGG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	58	58			NA	NA	16		NA											NA				25255541		2197	4300	6497	SO:0001583	missense			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592	342357	342357		Zinc fingers, C2H2-type, -, -, -	25677	protein-coding gene	gene with protein product			zinc finger protein 694	ZNF694	NA		Standard	NM_001012981	NM_001012981	NA	Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.1546C>T	16.37:g.25255541G>A	ENSP00000331626:p.Arg516Trp	NA	A1L3B4|Q6ZN77	37	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021567	0.75275	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.48836	0.8	5.48	4.53	0.55603	SANT domain, DNA binding (1);	0.122880	0.38272	N	0.001742	T	0.42944	0.1225	L	0.53249	1.67	0.36416	D	0.864056	B;B	0.22346	0.04;0.068	B;B	0.19946	0.027;0.027	T	0.52290	-0.8595	10	0.66056	D	0.02	-6.1889	10.6188	0.45467	0.0887:0.0:0.9113:0.0	.	312;516	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	W	516	ENSP00000331626:R516W	ENSP00000331626:R516W	R	-	1	2	ZKSCAN2	25163042	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.457000	0.53007	1.456000	0.47831	0.655000	0.94253	CGG	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000435739.1		-	ENST00000328086.7	Missense_Mutation	SNP	16 : 25255541 - 25255541 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	548	111
ZNF564	163050	broad.mit.edu	37	19	12638554	12638554	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12638554C>A	ENST00000339282.7	-	4	564	c.368G>T	c.(367-369)aGa>aTa	p.R123I	ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	NM_144976.3	NP_659413.1			zinc finger protein 564	NA										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						AAGGTGAGATCTGATGTGCCT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	121	120			NA	NA	19		NA											NA				12638554		2162	4282	6444	SO:0001583	missense			BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709	163050	163050		Zinc fingers, C2H2-type, -	31106	protein-coding gene	gene with protein product					NA		Standard	NM_144976	NM_144976	NA	Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.368G>T	19.37:g.12638554C>A	ENSP00000340004:p.Arg123Ile	NA		37	CCDS42505.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.272807	0.59649	.	.	ENSG00000249709	ENST00000339282	T	0.24908	1.83	1.71	-2.2	0.06994	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24624	0.0597	M	0.68952	2.095	0.09310	N	0.999995	B	0.24576	0.106	B	0.34931	0.192	T	0.48896	-0.8994	9	0.66056	D	0.02	.	0.3553	0.00355	0.1979:0.2175:0.1971:0.3876	.	123	Q8TBZ8	ZN564_HUMAN	I	123	ENSP00000340004:R123I	ENSP00000340004:R123I	R	-	2	0	ZNF564	12499554	0.000000	0.05858	0.001000	0.08648	0.889000	0.51656	-1.537000	0.02206	-0.514000	0.06488	0.643000	0.83706	AGA	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344120.2		-	ENST00000339282.7	Missense_Mutation	SNP	19 : 12638554 - 12638554 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	436	84
PDIA4	9601	broad.mit.edu	37	7	148702352	148702352	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148702352C>T	ENST00000286091.4	-	9	1635	c.1403G>A	c.(1402-1404)aGc>aAc	p.S468N		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	468					cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CCCACTCTCGCTGAGCCCCAG	0.582		NA									OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													208	171	184			NA	NA	7		NA											NA				148702352		2203	4300	6503	SO:0001583	missense			BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	9601	9601	5.3.4.1	Protein disulfide isomerases	30167	protein-coding gene	gene with protein product			protein disulfide isomerase-associated 4		NA	2549034, 2002068	Standard	NM_004911	NM_004911	NA	Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1403G>A	7.37:g.148702352C>T	ENSP00000286091:p.Ser468Asn	1719	A8K4K6|Q549T6	37	CCDS5893.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.531072	0.45073	.	.	ENSG00000155660	ENST00000286091	T	0.33438	1.41	5.24	5.24	0.73138	Thioredoxin-like fold (1);	0.207546	0.64402	D	0.000020	T	0.38161	0.1030	M	0.82323	2.585	0.42745	D	0.993757	B	0.21905	0.062	B	0.21360	0.034	T	0.24333	-1.0163	10	0.31617	T	0.26	.	13.7034	0.62622	0.193:0.807:0.0:0.0	.	468	P13667	PDIA4_HUMAN	N	468	ENSP00000286091:S468N	ENSP00000286091:S468N	S	-	2	0	PDIA4	148333285	0.983000	0.35010	0.995000	0.50966	0.972000	0.66771	3.840000	0.55843	2.445000	0.82738	0.655000	0.94253	AGC	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317077.1		-	ENST00000286091.4	Missense_Mutation	SNP	7 : 148702352 - 148702352 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	938	188
MSGN1	343930	broad.mit.edu	37	2	17998310	17998310	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17998310C>T	ENST00000281047.3	+	1	548	c.525C>T	c.(523-525)atC>atT	p.I175I		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	175	Helix-loop-helix motif.				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCAAGTACATCGGGGAACTCA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(127;325 1712 14802 40657 49130)							NA				0													43	48	46			NA	NA	2		NA											NA				17998310		2053	4197	6250	SO:0001819	synonymous_variant				CCDS42657.1	2p24.2	2007-07-23			ENSG00000151379	ENSG00000151379	343930	343930			14907	protein-coding gene	gene with protein product	paraxial mesogenin	612209			NA	10837126	Standard	XM_292850	NM_001105569	NA	Approved	pMesogenin1	uc010yjt.2	A6NI15	OTTHUMG00000159089	ENST00000281047.3:c.525C>T	2.37:g.17998310C>T		NA		37	CCDS42657.1																																																																																			MSGN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353253.1		+	ENST00000281047.3	Silent	SNP	2 : 17998310 - 17998310 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	378	18
SLC10A5	347051	broad.mit.edu	37	8	82606840	82606840	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82606840A>G	ENST00000518568.1	-	1	1569	c.368T>C	c.(367-369)gTc>gCc	p.V123A		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	123						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						GAGCACTTTGACTTTCACATT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	137	140			NA	NA	8		NA											NA				82606840		2203	4300	6503	SO:0001583	missense				CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598	347051	347051		Solute carriers	22981	protein-coding gene	gene with protein product					NA		Standard	XM_294493	NM_001010893	NA	Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.368T>C	8.37:g.82606840A>G	ENSP00000428612:p.Val123Ala	NA	B2RN26	37	CCDS34915.1	.	.	.	.	.	.	.	.	.	.	A	14.48	2.546548	0.45383	.	.	ENSG00000253598	ENST00000518568	T	0.09538	2.97	6.17	5.01	0.66863	.	0.674660	0.12872	N	0.432189	T	0.07279	0.0184	L	0.27053	0.805	0.25180	N	0.990217	P	0.42871	0.792	B	0.35182	0.197	T	0.24012	-1.0172	10	0.28530	T	0.3	-6.5206	9.4185	0.38536	0.9187:0.0:0.0813:0.0	.	123	Q5PT55	NTCP5_HUMAN	A	123	ENSP00000428612:V123A	ENSP00000428612:V123A	V	-	2	0	SLC10A5	82769395	0.970000	0.33590	0.996000	0.52242	0.901000	0.52897	3.086000	0.50159	2.371000	0.80710	0.533000	0.62120	GTC	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379736.1		-	ENST00000518568.1	Missense_Mutation	SNP	8 : 82606840 - 82606840 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	471	74
DNTTIP1	116092	broad.mit.edu	37	20	44430041	44430041	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44430041C>T	ENST00000372622.3	+	6	510	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	148						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				TTTCTTTTAGCGTGGCCGTCA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	93	95			NA	NA	20		NA											NA				44430041		2203	4300	6503	SO:0001630	splice_region_variant			AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457	116092	116092			16160	protein-coding gene	gene with protein product	novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1), TdT binding protein	611388	chromosome 20 open reading frame 167	C20orf167	NA	11473582	Standard	NM_052951	NM_052951	NA	Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.442-1C>T	20.37:g.44430041C>T		NA	B2RA18|Q96DE3|Q9BQP2|Q9H148	37	CCDS13369.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.970557|3.970557	0.74246|0.74246	.|.	.|.	ENSG00000101457|ENSG00000101457	ENST00000456939|ENST00000372622;ENST00000415790	.|T;T	.|0.52057	.|0.8;0.68	6.06|6.06	5.08|5.08	0.68730|0.68730	.|.	.|0.165435	.|0.46758	.|D	.|0.000273	T|T	0.63343|0.63343	0.2503|0.2503	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.69824	.|0.966	T|T	0.60672|0.60672	-0.7217|-0.7217	5|9	.|.	.|.	.|.	-10.899|-10.899	13.2985|13.2985	0.60311|0.60311	0.2813:0.7187:0.0:0.0|0.2813:0.7187:0.0:0.0	.|.	.|148	.|Q9H147	.|TDIF1_HUMAN	V|C	98|148;108	.|ENSP00000361705:R148C;ENSP00000392509:R108C	.|.	A|R	+|+	2|1	0|0	DNTTIP1|DNTTIP1	43863448|43863448	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.804000|0.804000	0.45430|0.45430	2.741000|2.741000	0.47426|0.47426	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GCG|CGT	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079502.1	Missense_Mutation	+	ENST00000372622.3	Splice_Site	SNP	20 : 44430041 - 44430041 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	605	107
GRHL1	29841	broad.mit.edu	37	2	10101440	10101440	+	Missense_Mutation	SNP	C	C	T	rs141487705		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10101440C>T	ENST00000324907.9	+	4	680	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	GRHL1_ENST00000324883.5_Silent_p.S18S|GRHL1_ENST00000405379.2_Missense_Mutation_p.R182W	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	182					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		GCCCACTGAGCGGGTGGTGGT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TRP/ARG	0,4406		0,0,2203	119	115	117		544	5.5	0.9	2	dbSNP_134	117	1,8599	1.2+/-3.3	0,1,4299	no	missense	GRHL1	NM_198182.2	101	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	182/619	10101440	1,13005	2203	4300	6503	SO:0001583	missense			AF198489	CCDS33144.1, CCDS33144.2	2p25.2	2008-02-05	2005-07-11	2005-07-11	ENSG00000134317	ENSG00000134317	29841	29841			17923	protein-coding gene	gene with protein product		609786	transcription factor CP2-like 2	TFCP2L2	NA	10644752, 12393799	Standard	NM_014552	NM_198182	NA	Approved	LBP-32, MGR	uc002raa.3	Q9NZI5	OTTHUMG00000151704	ENST00000324907.9:c.544C>T	2.37:g.10101440C>T	ENSP00000324693:p.Arg182Trp	NA	A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	37	CCDS33144.2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181082	0.78677	0.0	1.16E-4	ENSG00000134317	ENST00000405379;ENST00000324907	T;T	0.13420	2.59;2.6	5.5	5.5	0.81552	.	0.100619	0.64402	D	0.000002	T	0.24470	0.0593	L	0.59436	1.845	0.80722	D	1	D	0.65815	0.995	P	0.52343	0.696	T	0.00287	-1.1846	10	0.39692	T	0.17	.	14.258	0.66065	0.1489:0.8511:0.0:0.0	.	182	Q9NZI5	GRHL1_HUMAN	W	182	ENSP00000384209:R182W;ENSP00000324693:R182W	ENSP00000324693:R182W	R	+	1	2	GRHL1	10018891	1.000000	0.71417	0.902000	0.35471	0.942000	0.58702	4.218000	0.58554	2.594000	0.87642	0.563000	0.77884	CGG	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323543.2		+	ENST00000324907.9	Missense_Mutation	SNP	2 : 10101440 - 10101440 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	750	119
CHMP2A	27243	broad.mit.edu	37	19	59063087	59063087	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59063087C>T	ENST00000600118.1	-	5	1023	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	CHMP2A_ENST00000312547.2_Missense_Mutation_p.A200T|CHMP2A_ENST00000601220.1_Missense_Mutation_p.A200T			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	200	Interaction with VPS4B.				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GAGGCTGCGGCCTCTGCTTTT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	59	56			NA	NA	19		NA											NA				59063087		2203	4300	6503	SO:0001583	missense			AF042384	CCDS12986.1	19q13.43	2014-09-04	2011-09-21		ENSG00000130724	ENSG00000130724	27243	27243		Charged multivesicular body proteins	30216	protein-coding gene	gene with protein product	putative breast adenocarcinoma marker (32kD), VPS2 homolog A (S. cerevisiae)	610893	chromatin modifying protein 2A		NA	15173323, 11559748	Standard	NM_014453	XM_005258746	NA	Approved	BC-2, CHMP2, VPS2, VPS2A	uc002qtk.3	O43633	OTTHUMG00000183547	ENST00000600118.1:c.598G>A	19.37:g.59063087C>T	ENSP00000469240:p.Ala200Thr	NA	B2R4W6|Q3ZTT0	37	CCDS12986.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.859324	0.51376	.	.	ENSG00000130724	ENST00000312547	T	0.78364	-1.17	4.83	3.73	0.42828	.	0.191125	0.46145	D	0.000301	T	0.56187	0.1968	N	0.08118	0	0.44439	D	0.99736	B	0.15141	0.012	B	0.11329	0.006	T	0.51896	-0.8647	10	0.22706	T	0.39	.	11.141	0.48402	0.0:0.7156:0.2844:0.0	.	200	O43633	CHM2A_HUMAN	T	200	ENSP00000310440:A200T	ENSP00000310440:A200T	A	-	1	0	CHMP2A	63754899	1.000000	0.71417	0.998000	0.56505	0.810000	0.45777	2.730000	0.47335	2.686000	0.91538	0.650000	0.86243	GCC	CHMP2A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000467088.1		-	ENST00000600118.1	Missense_Mutation	SNP	19 : 59063087 - 59063087 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	585	27
RBKS	64080	broad.mit.edu	37	2	28081321	28081321	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:28081321C>T	ENST00000302188.3	-	2	959	c.207G>A	c.(205-207)acG>acA	p.T69T	RBKS_ENST00000444339.2_Silent_p.T69T	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	69					D-ribose metabolic process		ATP binding|ribokinase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					ACACCATGGACGTCATTGCTC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	96	100			NA	NA	2		NA											NA				28081321		2203	4300	6503	SO:0001819	synonymous_variant			BC017425	CCDS1762.1	2p23.3	2008-02-05			ENSG00000171174	ENSG00000171174	64080	64080	2.7.1.15		30325	protein-coding gene	gene with protein product		611132			NA	8382990	Standard	NM_022128	NM_022128	NA	Approved	DKFZp686G13268, RBSK	uc002rlo.1	Q9H477	OTTHUMG00000097833	ENST00000302188.3:c.207G>A	2.37:g.28081321C>T		NA	A9UK04	37	CCDS1762.1																																																																																			RBKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000215118.1		-	ENST00000302188.3	Silent	SNP	2 : 28081321 - 28081321 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	384	24
PCDH17	27253	broad.mit.edu	37	13	58207971	58207971	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:58207971G>A	ENST00000377918.3	+	1	1317	c.1291G>A	c.(1291-1293)Gac>Aac	p.D431N		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	431	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCGCCCGCTGGACCGCGAGAC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(72;952 1291 1619 12849 33676)							NA				0													40	29	32			NA	NA	13		NA											NA				58207971		2202	4297	6499	SO:0001583	missense			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946	27253	27253		Cadherins / Protocadherins : Non-clustered	14267	protein-coding gene	gene with protein product		611760			NA	10835267	Standard	NM_001040429	NM_001040429	NA	Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1291G>A	13.37:g.58207971G>A	ENSP00000367151:p.Asp431Asn	NA	A8K1R5|Q5VVW9|Q5VVX0	37	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394096	0.62066	.	.	ENSG00000118946	ENST00000377918	T	0.63417	-0.04	5.7	5.7	0.88788	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.83940	0.5363	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.85928	0.1450	9	.	.	.	.	19.8477	0.96722	0.0:0.0:1.0:0.0	.	431;431	O14917-2;O14917	.;PCD17_HUMAN	N	431	ENSP00000367151:D431N	.	D	+	1	0	PCDH17	57105972	1.000000	0.71417	1.000000	0.80357	0.313000	0.28021	9.864000	0.99589	2.704000	0.92352	0.650000	0.86243	GAC	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045139.1		+	ENST00000377918.3	Missense_Mutation	SNP	13 : 58207971 - 58207971 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	195	41
PPL	5493	broad.mit.edu	37	16	4934822	4934822	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4934822G>A	ENST00000345988.2	-	22	3923	c.3834C>T	c.(3832-3834)gcC>gcT	p.A1278A	PPL_ENST00000590782.2_Silent_p.A1276A	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1278					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGTCTTTCAGGGCCTGGATTT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	177	177			NA	NA	16		NA											NA				4934822		2197	4300	6497	SO:0001819	synonymous_variant			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898	5493	5493			9273	protein-coding gene	gene with protein product		602871			NA	9570964, 9521878	Standard	NM_002705	NM_002705	NA	Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3834C>T	16.37:g.4934822G>A		NA	O60314|O60454|Q14C98	37	CCDS10526.1																																																																																			PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251715.1		-	ENST00000345988.2	Silent	SNP	16 : 4934822 - 4934822 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1296	260
GALR1	2587	broad.mit.edu	37	18	74962940	74962940	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74962940C>A	ENST00000299727.3	+	1	436	c.436C>A	c.(436-438)Ctc>Atc	p.L146I		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	146					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CTCCTCCTCCCTCAGGGTGTC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	49	52			NA	NA	18		NA											NA				74962940		2203	4299	6502	SO:0001583	missense			U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573	2587	2587		GPCR / Class A : Galanin receptors	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR	NA	7524088	Standard		NM_001480	NA	Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.436C>A	18.37:g.74962940C>A	ENSP00000299727:p.Leu146Ile	NA	Q4VBL7	37	CCDS12012.1	.	.	.	.	.	.	.	.	.	.	C	8.305	0.820857	0.16678	.	.	ENSG00000166573	ENST00000299727	T	0.71698	-0.59	4.49	2.58	0.30949	GPCR, rhodopsin-like superfamily (1);	0.157190	0.42821	N	0.000642	T	0.45796	0.1360	N	0.10916	0.065	0.39673	D	0.970781	B	0.12013	0.005	B	0.12156	0.007	T	0.24404	-1.0161	10	0.26408	T	0.33	.	6.7241	0.23346	0.3058:0.6095:0.0:0.0848	.	146	P47211	GALR1_HUMAN	I	146	ENSP00000299727:L146I	ENSP00000299727:L146I	L	+	1	0	GALR1	73091928	0.774000	0.28592	0.970000	0.41538	0.332000	0.28634	1.084000	0.30828	0.816000	0.34421	0.591000	0.81541	CTC	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256362.1		+	ENST00000299727.3	Missense_Mutation	SNP	18 : 74962940 - 74962940 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	61
TCF25	22980	broad.mit.edu	37	16	89971399	89971399	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89971399T>C	ENST00000263346.8	+	14	1579	c.1523T>C	c.(1522-1524)tTt>tCt	p.F508S	TCF25_ENST00000263347.7_Missense_Mutation_p.F273S	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	508					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		AGGTCACACTTTCTCTGGAAA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	28	28			NA	NA	16		NA											NA				89971399		2193	4298	6491	SO:0001583	missense			AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002	22980	22980			29181	protein-coding gene	gene with protein product		612326			NA	12107429, 16574069	Standard	NM_014972	NM_014972	NA	Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.1523T>C	16.37:g.89971399T>C	ENSP00000263346:p.Phe508Ser	NA	Q2MK75|Q9UPV3	37	CCDS10987.1	.	.	.	.	.	.	.	.	.	.	T	7.543	0.661108	0.14645	.	.	ENSG00000141002	ENST00000263346;ENST00000263347	.	.	.	5.7	3.4	0.38934	.	0.299198	0.40554	N	0.001070	T	0.03827	0.0108	N	0.00057	-2.36	0.28664	N	0.905978	B;B	0.18013	0.021;0.025	B;B	0.13407	0.009;0.009	T	0.26677	-1.0096	9	0.17369	T	0.5	.	4.3785	0.11283	0.0:0.3371:0.0:0.6629	.	273;508	Q9H384;Q9BQ70	.;TCF25_HUMAN	S	508;273	.	ENSP00000263346:F508S	F	+	2	0	TCF25	88498900	0.249000	0.23941	1.000000	0.80357	0.774000	0.43823	0.447000	0.21710	1.000000	0.39049	0.482000	0.46254	TTT	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000272875.2		+	ENST00000263346.8	Missense_Mutation	SNP	16 : 89971399 - 89971399 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	89	18
CSMD3	114788	broad.mit.edu	37	8	114290828	114290828	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:114290828A>G	ENST00000297405.5	-	3	751	c.507T>C	c.(505-507)taT>taC	p.Y169Y	CSMD3_ENST00000343508.3_Silent_p.Y129Y|CSMD3_ENST00000352409.3_Silent_p.Y169Y|CSMD3_ENST00000455883.2_Silent_p.Y169Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	169	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TACCTTCGTAATATACCTTAA	0.388		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	98	104			NA	NA	8		NA											NA				114290828		2203	4300	6503	SO:0001819	synonymous_variant			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796	114788	114788			19291	protein-coding gene	gene with protein product		608399			NA		Standard	NM_052900	NM_052900	NA	Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.507T>C	8.37:g.114290828A>G		NA	Q96PZ3	37	CCDS6315.1																																																																																			CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347141.1		-	ENST00000297405.5	Silent	SNP	8 : 114290828 - 114290828 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	287	23
C6orf165	154313	broad.mit.edu	37	6	88119631	88119631	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88119631G>A	ENST00000507897.1	+	2	157	c.74G>A	c.(73-75)gGa>gAa	p.G25E	C6ORF165_ENST00000369562.4_Missense_Mutation_p.G25E			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	25										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		GCAGCCCATGGAGAGATTGTT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	151	149			NA	NA	6		NA											NA				88119631		2203	4300	6503	SO:0001583	missense			BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204	154313	154313			21405	protein-coding gene	gene with protein product					NA		Standard	NM_178823	NM_001031743	NA	Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.74G>A	6.37:g.88119631G>A	ENSP00000426769:p.Gly25Glu	NA	A8K969|E1P507|Q8N9U4	37	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479913	0.84747	.	.	ENSG00000213204	ENST00000369562;ENST00000480123	T;T	0.34667	1.35;1.37	5.39	5.39	0.77823	.	0.051960	0.85682	D	0.000000	T	0.52240	0.1722	M	0.66939	2.045	0.58432	D	0.999998	D;D	0.69078	0.997;0.997	D;P	0.68943	0.961;0.907	T	0.50189	-0.8857	10	0.51188	T	0.08	.	19.1063	0.93296	0.0:0.0:1.0:0.0	.	25;25	Q8IYR0;E1P509	CF165_HUMAN;.	E	25	ENSP00000358575:G25E;ENSP00000422494:G25E	ENSP00000358575:G25E	G	+	2	0	C6orf165	88176350	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.803000	0.91915	2.671000	0.90904	0.655000	0.94253	GGA	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000470406.1		+	ENST00000507897.1	Missense_Mutation	SNP	6 : 88119631 - 88119631 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	507	110
CDIPT	10423	broad.mit.edu	37	16	29870526	29870526	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29870526C>T	ENST00000566113.1	-	5	837	c.491G>A	c.(490-492)cGc>cAc	p.R164H	CDIPT_ENST00000570016.1_Missense_Mutation_p.R209H|CDIPT_ENST00000561555.1_Missense_Mutation_p.R233H|CDIPT_ENST00000569956.1_Missense_Mutation_p.R209H|CDIPT_ENST00000563415.1_3'UTR|CDIPT_ENST00000219789.6_Missense_Mutation_p.R209H|CDIPT_ENST00000567459.1_5'UTR			O14735	CDIPT_HUMAN	CDP-diacylglycerol--inositol 3-phosphatidyltransferase	209						endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity|phosphatidylinositol transporter activity			endometrium(1)|lung(3)	4						CTTCTTGGCGCGGTCTGCTGC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	25	25			NA	NA	16		NA											NA				29870526		2195	4290	6485	SO:0001583	missense			AF014807	CCDS10657.1, CCDS67002.1	16p11.2	2012-11-19	2010-04-29		ENSG00000103502	ENSG00000103502	10423	10423	2.7.8.11		1769	protein-coding gene	gene with protein product	phosphatidylinositol synthase	605893	CDP-diacylglycerol--inositol 3-phosphatidyltransferase (phosphatidylinositol synthase)		NA	9407135	Standard	NM_006319	NM_006319	NA	Approved	PIS1, PIS	uc002dum.3	O14735	OTTHUMG00000177144	ENST00000566113.1:c.491G>A	16.37:g.29870526C>T	ENSP00000457340:p.Arg164His	NA	Q6FGU1|Q6ZN70	37		.	.	.	.	.	.	.	.	.	.	C	36	5.712574	0.96830	.	.	ENSG00000103502	ENST00000219789	T	0.51574	0.7	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.70386	0.3218	M	0.78285	2.405	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.991;0.98;0.999	T	0.72130	-0.4383	10	0.56958	D	0.05	-5.9296	17.2093	0.86926	0.0:1.0:0.0:0.0	.	164;209;233	B4DUV0;O14735;B3KY94	.;CDIPT_HUMAN;.	H	209	ENSP00000219789:R209H	ENSP00000219789:R209H	R	-	2	0	CDIPT	29778027	1.000000	0.71417	0.976000	0.42696	0.938000	0.57974	6.382000	0.73167	2.664000	0.90586	0.655000	0.94253	CGC	CDIPT-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000435591.1		-	ENST00000566113.1	Missense_Mutation	SNP	16 : 29870526 - 29870526 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	61	12
ZNF318	24149	broad.mit.edu	37	6	43305593	43305593	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43305593G>A	ENST00000361428.2	-	10	6220	c.6143C>T	c.(6142-6144)tCt>tTt	p.S2048F	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2048					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AGGTGATACAGAATTTTCTTC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	82	85			NA	NA	6		NA											NA				43305593		2203	4300	6503	SO:0001583	missense			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467	24149	24149		Zinc fingers, C2H2-type	13578	protein-coding gene	gene with protein product					NA	10873617	Standard	NM_014345	NM_014345	NA	Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.6143C>T	6.37:g.43305593G>A	ENSP00000354964:p.Ser2048Phe	NA	O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	37	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	8.914	0.959432	0.18507	.	.	ENSG00000171467	ENST00000361428	T	0.12774	2.65	5.2	3.27	0.37495	.	0.501221	0.19661	N	0.108975	T	0.10252	0.0251	L	0.32530	0.975	0.44485	D	0.99742	D	0.57571	0.98	P	0.56700	0.804	T	0.04203	-1.0969	10	0.54805	T	0.06	-4.6027	8.6883	0.34251	0.1987:0.0:0.8013:0.0	.	2048	Q5VUA4	ZN318_HUMAN	F	2048	ENSP00000354964:S2048F	ENSP00000354964:S2048F	S	-	2	0	ZNF318	43413571	1.000000	0.71417	0.884000	0.34674	0.096000	0.18686	1.868000	0.39509	1.432000	0.47375	0.655000	0.94253	TCT	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040601.2		-	ENST00000361428.2	Missense_Mutation	SNP	6 : 43305593 - 43305593 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	345	61
DCBLD2	131566	broad.mit.edu	37	3	98518306	98518306	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98518306G>A	ENST00000326840.6	-	16	2600	c.2238C>T	c.(2236-2238)gaC>gaT	p.D746D	DCBLD2_ENST00000326857.9_Silent_p.D760D	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	746					cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane		p.D746D(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						ACACCAATTCGTCTGGGGCAG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	endometrium(1)											203	203	203			NA	NA	3		NA											NA				98518306		1957	4150	6107	SO:0001819	synonymous_variant				CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019	131566	131566			24627	protein-coding gene	gene with protein product		608698			NA	11447234	Standard	NM_080927	NM_080927	NA	Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.2238C>T	3.37:g.98518306G>A		NA	B7WNL1|D3DN41|Q8N6M4|Q8TDX2	37	CCDS46878.1																																																																																			DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324675.2		-	ENST00000326840.6	Silent	SNP	3 : 98518306 - 98518306 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1181	215
CUBN	8029	broad.mit.edu	37	10	17113893	17113893	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17113893A>G	ENST00000377833.4	-	18	2444	c.2379T>C	c.(2377-2379)agT>agC	p.S793S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	793	CUB 3.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGATCCAGACACTATTAGTAA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	57	57			NA	NA	10		NA											NA				17113893		2203	4299	6502	SO:0001819	synonymous_variant			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611	8029	8029			2548	protein-coding gene	gene with protein product		602997		MGA1	NA	9572993, 9478979	Standard	NM_001081	NM_001081	NA	Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.2379T>C	10.37:g.17113893A>G		NA	B0YIZ4|Q5VTA6|Q96RU9	37	CCDS7113.1																																																																																			CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047009.1		-	ENST00000377833.4	Silent	SNP	10 : 17113893 - 17113893 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	206	42
LYRM4	57128	broad.mit.edu	37	6	5109689	5109689	+	Nonstop_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:5109689T>C	ENST00000468929.1	-	2	131	c.123A>G	c.(121-123)tgA>tgG	p.*41W	LYRM4_ENST00000464010.1_3'UTR|LYRM4_ENST00000330636.4_Missense_Mutation_p.I82V			Q9HD34	LYRM4_HUMAN	LYR motif containing 4	0						mitochondrion|nucleus				endometrium(1)	1	Ovarian(93;0.11)	all_hematologic(90;0.0901)				TTCTCAATGATCAGCTTGTCA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(130;1006 2426 17608 36797)							NA				0													144	133	137			NA	NA	6		NA											NA				5109689		2203	4300	6503	SO:0001578	stop_lost			AF258559	CCDS4493.1, CCDS54961.1	6p25.1	2008-02-05	2006-09-19	2006-09-19	ENSG00000214113	ENSG00000214113	57128	57128		LYR motif containing	21365	protein-coding gene	gene with protein product		613311	chromosome 6 open reading frame 149	C6orf149	NA		Standard	NM_020408	XM_005249239	NA	Approved	CGI-203, ISD11	uc021ykw.1	Q9HD34	OTTHUMG00000014173	ENST00000468929.1:c.123A>G	6.37:g.5109689T>C	ENSP00000418321:p.*41Cysext*42	NA	A8K543|Q5XKP1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.580|7.580	0.668632|0.668632	0.14776|0.14776	.|.	.|.	ENSG00000214113|ENSG00000214113	ENST00000330636|ENST00000468929	T|.	0.30448|.	1.53|.	5.42|5.42	-7.49|-7.49	0.01355|0.01355	.|.	0.389310|.	0.17005|.	U|.	0.190765|.	T|.	0.24890|.	0.0604|.	.|.	.|.	.|.	0.22787|0.22787	N|N	0.99874|0.99874	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|.	0.22243|.	-1.0222|.	9|.	0.02654|.	T|.	1|.	.|.	17.4863|17.4863	0.87689|0.87689	0.0:0.7223:0.0:0.2777|0.0:0.7223:0.0:0.2777	.|.	82|.	Q9HD34|.	LYRM4_HUMAN|.	V|W	82|41	ENSP00000418787:I82V|.	ENSP00000418787:I82V|.	I|X	-|-	1|3	0|0	LYRM4|LYRM4	5054688|5054688	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.949000|0.949000	0.60115|0.60115	-1.611000|-1.611000	0.02062|0.02062	-1.255000|-1.255000	0.02481|0.02481	-0.256000|-0.256000	0.11100|0.11100	ATC|TGA	LYRM4-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000353482.1		-	ENST00000468929.1	Nonstop_Mutation	SNP	6 : 5109689 - 5109689 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	748	112
TTC5	91875	broad.mit.edu	37	14	20767555	20767555	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20767555C>T	ENST00000258821.3	-	4	505	c.449G>A	c.(448-450)cGg>cAg	p.R150Q		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	150					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		AGTGTCAGTCCGCAGCTGACG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	125	136			NA	NA	14		NA											NA				20767555		2203	4300	6503	SO:0001583	missense			BC008647	CCDS9546.1	14q11.2	2013-01-11			ENSG00000136319	ENSG00000136319	91875	91875		Tetratricopeptide (TTC) repeat domain containing	19274	protein-coding gene	gene with protein product					NA	11511361	Standard	NM_138376	NM_138376	NA	Approved	Strap	uc001vwt.3	Q8N0Z6	OTTHUMG00000029506	ENST00000258821.3:c.449G>A	14.37:g.20767555C>T	ENSP00000258821:p.Arg150Gln	NA	A8MQ18|Q96HF9	37	CCDS9546.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.534768	0.27475	.	.	ENSG00000136319	ENST00000258821	T	0.29397	1.57	4.89	1.0	0.19881	Tetratricopeptide-like helical (1);	0.201780	0.44902	N	0.000412	T	0.14270	0.0345	N	0.15975	0.35	0.28403	N	0.918559	B	0.06786	0.001	B	0.04013	0.001	T	0.29243	-1.0018	10	0.12766	T	0.61	.	9.0259	0.36230	0.0:0.6849:0.0:0.3151	.	150	Q8N0Z6	TTC5_HUMAN	Q	150	ENSP00000258821:R150Q	ENSP00000258821:R150Q	R	-	2	0	TTC5	19837395	0.991000	0.36638	0.502000	0.27614	0.937000	0.57800	2.490000	0.45294	0.083000	0.17047	-0.127000	0.14921	CGG	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000073529.4		-	ENST00000258821.3	Missense_Mutation	SNP	14 : 20767555 - 20767555 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	402	32
PHF21A	51317	broad.mit.edu	37	11	45992707	45992707	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45992707G>A	ENST00000323180.6	-	7	939	c.572C>T	c.(571-573)gCa>gTa	p.A191V	PHF21A_ENST00000418153.2_Missense_Mutation_p.A191V|PHF21A_ENST00000257821.4_Missense_Mutation_p.A191V	NM_016621.3	NP_057705.3	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	191					blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						GACAGCCTCTGCCCCAGGCCC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	91	97			NA	NA	11		NA											NA				45992707		2202	4299	6501	SO:0001583	missense			AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365	51317	51317		Zinc fingers, PHD-type	24156	protein-coding gene	gene with protein product		608325			NA	11214970, 12032298	Standard	NM_016621	NM_001101802	NA	Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000323180.6:c.572C>T	11.37:g.45992707G>A	ENSP00000323152:p.Ala191Val	NA	D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	37	CCDS31474.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451365	0.84209	.	.	ENSG00000135365	ENST00000257821;ENST00000323180;ENST00000418153	T;T;T	0.51574	0.7;0.7;0.7	5.59	5.59	0.84812	.	0.153764	0.64402	D	0.000015	T	0.54631	0.1870	L	0.54323	1.7	0.58432	D	0.999991	B;D	0.55605	0.265;0.972	B;P	0.48488	0.054;0.579	T	0.55244	-0.8171	10	0.49607	T	0.09	-7.3342	19.5907	0.95509	0.0:0.0:1.0:0.0	.	191;191	Q96BD5;Q96BD5-2	PF21A_HUMAN;.	V	191	ENSP00000257821:A191V;ENSP00000323152:A191V;ENSP00000398824:A191V	ENSP00000257821:A191V	A	-	2	0	PHF21A	45949283	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.822000	0.92013	2.640000	0.89533	0.655000	0.94253	GCA	PHF21A-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392581.1		-	ENST00000323180.6	Missense_Mutation	SNP	11 : 45992707 - 45992707 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	236	49
SLC7A5	8140	broad.mit.edu	37	16	87868172	87868172	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87868172A>C	ENST00000261622.4	-	9	1381	c.1316T>G	c.(1315-1317)tTc>tGc	p.F439C	SLC7A5_ENST00000565644.1_Missense_Mutation_p.F173C	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	439					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)		GGCCAGGATGAAGAACACAGG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	36	37			NA	NA	16		NA											NA				87868172		2189	4294	6483	SO:0001583	missense			AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257	8140	8140		CD molecules, Solute carriers	11063	protein-coding gene	gene with protein product		600182			NA	9751058, 7829099	Standard	NM_003486	XM_006721286	NA	Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.1316T>G	16.37:g.87868172A>C	ENSP00000261622:p.Phe439Cys	NA	Q9UBN8|Q9UP15|Q9UQC0	37	CCDS10964.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.473396	0.84640	.	.	ENSG00000103257	ENST00000261622	D	0.90444	-2.67	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.95214	0.8448	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95763	0.8802	10	0.87932	D	0	.	14.7371	0.69424	1.0:0.0:0.0:0.0	.	439	Q01650	LAT1_HUMAN	C	439	ENSP00000261622:F439C	ENSP00000261622:F439C	F	-	2	0	SLC7A5	86425673	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.087000	0.76893	2.084000	0.62774	0.374000	0.22700	TTC	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269110.2		-	ENST00000261622.4	Missense_Mutation	SNP	16 : 87868172 - 87868172 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	68	18
SSPN	8082	broad.mit.edu	37	12	26348816	26348816	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:26348816G>A	ENST00000242729.2	+	1	388	c.211G>A	c.(211-213)Ggc>Agc	p.G71S	SSPN_ENST00000540266.1_Intron|SSPN_ENST00000422622.2_Intron|SSPN_ENST00000535504.1_Missense_Mutation_p.G71S	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN	sarcospan	71					cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle				kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					GACCGTGGTGGGCTTCCTCAT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	23	30			NA	NA	12		NA											NA				26348816		2147	4256	6403	SO:0001583	missense			AF016028	CCDS8707.1, CCDS44850.1	12p11.2	2014-09-17	2012-03-14			ENSG00000123096	8082	8082			11322	protein-coding gene	gene with protein product		601599	Kras oncogene-associated gene	KRAG	NA	9395445, 8661122	Standard	NM_005086	NM_005086	NA	Approved	SPN1, SPN2	uc001rhe.3	Q14714		ENST00000242729.2:c.211G>A	12.37:g.26348816G>A	ENSP00000242729:p.Gly71Ser	NA		37	CCDS8707.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138322	0.77775	.	.	ENSG00000123096	ENST00000242729;ENST00000441067;ENST00000535504	T;T	0.04454	3.62;3.62	4.16	4.16	0.48862	.	0.060238	0.64402	D	0.000002	T	0.05044	0.0135	N	0.15975	0.35	0.43761	D	0.996276	P;P;P	0.51537	0.946;0.889;0.896	P;P;P	0.50314	0.637;0.526;0.548	T	0.52931	-0.8509	10	0.35671	T	0.21	-16.8356	9.7617	0.40537	0.0945:0.0:0.9055:0.0	.	71;71;71	F5H0K2;A1YBP2;Q14714	.;.;SSPN_HUMAN	S	71;45;71	ENSP00000242729:G71S;ENSP00000438801:G71S	ENSP00000242729:G71S	G	+	1	0	SSPN	26240083	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.537000	0.73847	2.321000	0.78463	0.655000	0.94253	GGC	SSPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402654.2		+	ENST00000242729.2	Missense_Mutation	SNP	12 : 26348816 - 26348816 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	62	7
CAMTA1	23261	broad.mit.edu	37	1	7700507	7700507	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7700507G>T	ENST00000303635.7	+	7	765	c.558G>T	c.(556-558)gaG>gaT	p.E186D	CAMTA1_ENST00000439411.2_Missense_Mutation_p.E186D	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	186					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)		CGGCCATCGAGGACTGCGGCA	0.612		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													142	115	124			NA	NA	1		NA											NA				7700507		2203	4300	6503	SO:0001583	missense			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.558G>T	1.37:g.7700507G>T	ENSP00000306522:p.Glu186Asp	NA	A7MBM4|Q5VUE1|Q6V701|Q8WYI3	37	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.242079	0.39598	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.21361	2.02;2.01	5.36	3.25	0.37280	CG-1 (1);	0.000000	0.85682	D	0.000000	T	0.15089	0.0364	N	0.17082	0.46	0.53005	D	0.999968	P	0.45768	0.866	P	0.46510	0.519	T	0.06215	-1.0839	10	0.19147	T	0.46	-24.0721	10.9454	0.47297	0.2021:0.0:0.7979:0.0	.	186	Q9Y6Y1	CMTA1_HUMAN	D	186	ENSP00000306522:E186D;ENSP00000402561:E186D	ENSP00000306522:E186D	E	+	3	2	CAMTA1	7623094	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.992000	0.56980	1.257000	0.44085	0.462000	0.41574	GAG	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000003588.3		+	ENST00000303635.7	Missense_Mutation	SNP	1 : 7700507 - 7700507 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	533	42
TRIO	7204	broad.mit.edu	37	5	14336699	14336699	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14336699A>G	ENST00000344204.4	+	11	1933	c.1909A>G	c.(1909-1911)Act>Gct	p.T637A	TRIO_ENST00000509967.2_Missense_Mutation_p.T588A|TRIO_ENST00000537187.1_Missense_Mutation_p.T637A	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	637					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCTGGCTCAGACTGGGGAATG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	91	93			NA	NA	5		NA											NA				14336699		2203	4300	6503	SO:0001583	missense			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382	7204	7204		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing	12303	protein-coding gene	gene with protein product		601893	triple functional domain (PTPRF interacting)		NA	8643598	Standard	NM_007118	NM_007118	NA	Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.1909A>G	5.37:g.14336699A>G	ENSP00000339299:p.Thr637Ala	NA	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	37	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	A	18.88	3.717746	0.68844	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.44083	1.03;1.03;0.93	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.53690	0.1812	L	0.35593	1.075	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.992	D;D;D	0.79784	0.983;0.993;0.989	T	0.56944	-0.7895	10	0.62326	D	0.03	.	15.0232	0.71647	1.0:0.0:0.0:0.0	.	588;637;637	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	A	637;637;588;324	ENSP00000339299:T637A;ENSP00000446348:T637A;ENSP00000445592:T588A	ENSP00000339299:T637A	T	+	1	0	TRIO	14389699	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	9.339000	0.96797	1.946000	0.56461	0.454000	0.30748	ACT	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253711.2		+	ENST00000344204.4	Missense_Mutation	SNP	5 : 14336699 - 14336699 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	287	68
ARID5B	84159	broad.mit.edu	37	10	63852705	63852705	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:63852705C>T	ENST00000279873.7	+	10	3893	c.3483C>T	c.(3481-3483)agC>agT	p.S1161S	ARID5B_ENST00000309334.5_Silent_p.S918S	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1161					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TGCATAACAGCATTTACCCTT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	138	137			NA	NA	10		NA											NA				63852705		2203	4300	6503	SO:0001819	synonymous_variant			M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347	84159	84159		-	17362	protein-coding gene	gene with protein product		608538			NA	11483573, 11478881	Standard	XM_084482	NM_032199	NA	Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.3483C>T	10.37:g.63852705C>T		NA	B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	37	CCDS31208.1																																																																																			ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048233.1		+	ENST00000279873.7	Silent	SNP	10 : 63852705 - 63852705 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	727	136
PSG8	440533	broad.mit.edu	37	19	43258660	43258660	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43258660C>T	ENST00000404209.4	-	5	1164	c.1068G>A	c.(1066-1068)gcG>gcA	p.A356A	PSG8_ENST00000306511.4_Silent_p.A356A|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000406636.3_Silent_p.A234A|PSG8_ENST00000401467.2_Silent_p.A263A	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	356	Ig-like C2-type 3.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGTTAGAGTCCGCAGAACAGG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	139	135			NA	NA	19		NA											NA				43258660		2203	4296	6499	SO:0001819	synonymous_variant			M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467	NA	440533		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	9525	protein-coding gene	gene with protein product		176397			NA	1672663, 1572651	Standard		NM_182707	NA	Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000404209.4:c.1068G>A	19.37:g.43258660C>T		NA	B2RPL4|B4DTI6|O60410|Q68CR6	37	CCDS46091.1																																																																																			PSG8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321407.3		-	ENST00000404209.4	Silent	SNP	19 : 43258660 - 43258660 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1023	36
TEP1	7011	broad.mit.edu	37	14	20843925	20843925	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20843925C>T	ENST00000556935.1	-	41	6067	c.6028G>A	c.(6028-6030)Gat>Aat	p.D2010N	TEP1_ENST00000545983.1_Missense_Mutation_p.D456N|TEP1_ENST00000262715.5_Missense_Mutation_p.D2118N			Q99973	TEP1_HUMAN	telomerase-associated protein 1	2118					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGTAGGTTATCTTTGGTCCAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	56	56			NA	NA	14		NA											NA				20843925		2203	4300	6503	SO:0001583	missense				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566	7011	7011		WD repeat domain containing	11726	protein-coding gene	gene with protein product	TROVE domain family, member 1	601686			NA	9403057	Standard	NM_007110	NM_007110	NA	Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000556935.1:c.6028G>A	14.37:g.20843925C>T	ENSP00000452574:p.Asp2010Asn	NA	A0AUV9	37		.	.	.	.	.	.	.	.	.	.	C	24.1	4.492157	0.84962	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.81078	2.18;2.18;-1.45	5.62	4.74	0.60224	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.219026	0.46145	N	0.000317	T	0.80788	0.4690	L	0.33339	1.005	0.38011	D	0.934544	D;B;D;B	0.60575	0.988;0.291;0.985;0.339	P;B;P;B	0.58266	0.836;0.177;0.802;0.168	T	0.81852	-0.0742	10	0.39692	T	0.17	-13.3143	11.8809	0.52576	0.0:0.9179:0.0:0.0821	.	456;2010;1461;2118	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	N	2118;2118;2010;456	ENSP00000262715:D2118N;ENSP00000452574:D2010N;ENSP00000438849:D456N	ENSP00000262715:D2118N	D	-	1	0	TEP1	19913765	0.986000	0.35501	1.000000	0.80357	0.987000	0.75469	1.942000	0.40243	1.380000	0.46344	0.563000	0.77884	GAT	TEP1-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000410689.1		-	ENST00000556935.1	Missense_Mutation	SNP	14 : 20843925 - 20843925 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	211	35
F2RL2	2151	broad.mit.edu	37	5	75913857	75913857	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75913857C>T	ENST00000504899.1	-	2	727	c.609G>A	c.(607-609)atG>atA	p.M203I	IQGAP2_ENST00000379730.3_Intron|F2RL2_ENST00000296641.4_Missense_Mutation_p.M225I|IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000396234.3_Intron	NM_001256566.1	NP_001243495.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	225					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		AAAATGGCAGCATATATAAGA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	58	59			NA	NA	5		NA											NA				75913857		2203	4300	6503	SO:0001583	missense			U92971	CCDS4031.1, CCDS58959.1	5q13	2012-08-08			ENSG00000164220	ENSG00000164220	2151	2151		GPCR / Class A : Protease activated receptors	3539	protein-coding gene	gene with protein product	proteinase-activated receptor-3	601919			NA	9087410, 9722561	Standard		NM_004101	NA	Approved	PAR3	uc003kem.4	O00254	OTTHUMG00000102119	ENST00000504899.1:c.609G>A	5.37:g.75913857C>T	ENSP00000426703:p.Met203Ile	NA	B2R754|Q52M68|Q7Z3W3	37	CCDS58959.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926652	0.34002	.	.	ENSG00000164220	ENST00000296641;ENST00000504899	T;T	0.36699	1.24;1.24	5.09	5.09	0.68999	GPCR, rhodopsin-like superfamily (1);	0.136641	0.64402	D	0.000003	T	0.33673	0.0871	L	0.41492	1.28	0.37047	D	0.897399	B	0.26258	0.145	B	0.29267	0.1	T	0.22626	-1.0211	10	0.21014	T	0.42	-26.9937	18.5213	0.90954	0.0:1.0:0.0:0.0	.	225	O00254	PAR3_HUMAN	I	225;203	ENSP00000296641:M225I;ENSP00000426703:M203I	ENSP00000296641:M225I	M	-	3	0	F2RL2	75949613	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.429000	0.52800	2.367000	0.80283	0.563000	0.77884	ATG	F2RL2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368874.1		-	ENST00000504899.1	Missense_Mutation	SNP	5 : 75913857 - 75913857 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	243	10
ACAT1	38	broad.mit.edu	37	11	108014709	108014709	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108014709G>T	ENST00000265838.4	+	10	1031		c.e10-1			NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	NA					acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	TTTTTAAACAGCATTTGCTGA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	77	75			NA	NA	11		NA											NA				108014709		2201	4298	6499	SO:0001630	splice_region_variant			D90228	CCDS8339.1	11q22.3	2010-04-30	2010-04-30		ENSG00000075239	ENSG00000075239	38	38	2.3.1.9		93	protein-coding gene	gene with protein product	acetoacetyl Coenzyme A thiolase	607809	acetyl-Coenzyme A acetyltransferase 1	ACAT	NA	1979337	Standard	NM_000019	NM_000019	NA	Approved	THIL	uc001pjy.3	P24752	OTTHUMG00000166381	ENST00000265838.4:c.941-1G>T	11.37:g.108014709G>T		NA	B2R6H1	37	CCDS8339.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337248	0.60963	.	.	ENSG00000075239	ENST00000265838	.	.	.	5.47	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1592	0.65436	0.0722:0.0:0.9278:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACAT1	107519919	1.000000	0.71417	0.912000	0.35992	0.683000	0.39861	9.386000	0.97228	1.323000	0.45263	0.655000	0.94253	.	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389474.1	Intron	+	ENST00000265838.4	Splice_Site	SNP	11 : 108014709 - 108014709 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	71
AHCTF1	25909	broad.mit.edu	37	1	247081580	247081580	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247081580T>A	ENST00000366508.1	-	2	334	c.198A>T	c.(196-198)gaA>gaT	p.E66D	AHCTF1_ENST00000391829.2_Missense_Mutation_p.E31D|AHCTF1_ENST00000326225.3_Missense_Mutation_p.E40D			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	31	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GAAGCACAGATTCTAATGTTA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(145;197 1800 4745 15099 26333)							NA				0													75	70	72			NA	NA	1		NA											NA				247081580		2203	4300	6503	SO:0001583	missense				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207	25909	25909			24618	protein-coding gene	gene with protein product	ELYS transcription factor like protein TMBS62	610853			NA	11952839	Standard	NM_015446	NM_015446	NA	Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000366508.1:c.198A>T	1.37:g.247081580T>A	ENSP00000355464:p.Glu66Asp	NA	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	37		.	.	.	.	.	.	.	.	.	.	T	12.53	1.966872	0.34659	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829;ENST00000478568	T;T;T	0.32272	1.46;1.47;1.48	5.54	-1.94	0.07571	.	0.153579	0.56097	N	0.000030	T	0.09024	0.0223	N	0.08118	0	0.30697	N	0.750698	B;B	0.20368	0.044;0.033	B;B	0.22753	0.041;0.011	T	0.19877	-1.0292	10	0.07813	T	0.8	-17.0811	0.7897	0.01055	0.1864:0.1884:0.2585:0.3668	.	66;31	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	D	66;40;31;31	ENSP00000355464:E66D;ENSP00000355465:E40D;ENSP00000375705:E31D	ENSP00000355465:E40D	E	-	3	2	AHCTF1	245148203	0.936000	0.31750	0.996000	0.52242	0.971000	0.66376	-0.053000	0.11846	-0.206000	0.10203	-0.438000	0.05819	GAA	AHCTF1-001	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000097817.1		-	ENST00000366508.1	Missense_Mutation	SNP	1 : 247081580 - 247081580 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	328	32
PRDM1	639	broad.mit.edu	37	6	106553699	106553699	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:106553699A>G	ENST00000369091.2	+	5	1776	c.1556A>G	c.(1555-1557)aAc>aGc	p.N519S	PRDM1_ENST00000369089.3_Missense_Mutation_p.N421S|PRDM1_ENST00000369096.4_Missense_Mutation_p.N555S			O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	555					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AACAAAAGAAACATGACCGGC	0.547		NA	D, N, Mis, F, S		DLBCL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		6	6q21	639	PR domain containing 1, with ZNF domain		L	0													57	58	57			NA	NA	6		NA											NA				106553699		2203	4300	6503	SO:0001583	missense				CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657	639	639		Zinc fingers, C2H2-type	9346	protein-coding gene	gene with protein product		603423		BLIMP1	NA	1851123	Standard		NM_001198	NA	Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369091.2:c.1556A>G	6.37:g.106553699A>G	ENSP00000358087:p.Asn519Ser	NA	B2REA6|E1P5E0	37		.	.	.	.	.	.	.	.	.	.	A	14.90	2.674326	0.47781	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000369089	T;T;T	0.06687	3.29;3.27;3.29	5.74	5.74	0.90152	.	0.125824	0.85682	D	0.000000	T	0.04363	0.0120	L	0.48362	1.52	0.51012	D	0.999903	B;B	0.28128	0.112;0.201	B;B	0.27715	0.053;0.082	T	0.35724	-0.9777	10	0.22706	T	0.39	-47.0413	16.0421	0.80691	1.0:0.0:0.0:0.0	.	421;555	Q86WM7;O75626	.;PRDM1_HUMAN	S	519;555;518;421	ENSP00000358087:N519S;ENSP00000358092:N555S;ENSP00000358085:N421S	ENSP00000358085:N421S	N	+	2	0	PRDM1	106660392	1.000000	0.71417	0.994000	0.49952	0.921000	0.55340	4.211000	0.58507	2.192000	0.70111	0.533000	0.62120	AAC	PRDM1-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000327265.1		+	ENST00000369091.2	Missense_Mutation	SNP	6 : 106553699 - 106553699 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	390	66
ACTA2	59	broad.mit.edu	37	10	90699290	90699290	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90699290T>A	ENST00000458208.1	-	7	1256	c.782A>T	c.(781-783)gAg>gTg	p.E261V	ACTA2-AS1_ENST00000596007.1_RNA|ACTA2-AS1_ENST00000437930.4_RNA|ACTA2_ENST00000224784.6_Missense_Mutation_p.E261V|STAMBPL1_ENST00000371927.3_Intron	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	261					response to virus	cytosol	ATP binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		GAACAGGGTCTCTGGGCAGCG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	115	119			NA	NA	10		NA											NA				90699290		2203	4300	6503	SO:0001583	missense			X13839	CCDS7392.1	10q23.31	2014-09-17			ENSG00000107796	ENSG00000107796	59	59			130	protein-coding gene	gene with protein product		102620			NA	2398629	Standard	NM_001613	NM_001141945	NA	Approved	ACTSA	uc001kfp.3	P62736	OTTHUMG00000018700	ENST00000458208.1:c.782A>T	10.37:g.90699290T>A	ENSP00000402373:p.Glu261Val	NA	B2R8A4|P03996|P04108|Q6FI19	37	CCDS7392.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.990665	0.74589	.	.	ENSG00000107796	ENST00000224784;ENST00000458208;ENST00000544901	D;D	0.98135	-4.74;-4.74	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.99566	0.9844	H	0.99997	5.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97028	0.9748	10	0.87932	D	0	.	15.467	0.75409	0.0:0.0:0.0:1.0	.	261	P62736	ACTA_HUMAN	V	261;261;216	ENSP00000224784:E261V;ENSP00000402373:E261V	ENSP00000224784:E261V	E	-	2	0	ACTA2	90689270	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.330000	0.79161	0.533000	0.62120	GAG	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049264.1		-	ENST00000458208.1	Missense_Mutation	SNP	10 : 90699290 - 90699290 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	575	94
TEX33	339669	broad.mit.edu	37	22	37387247	37387247	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37387247G>A	ENST00000405091.2	-	7	1067	c.816C>T	c.(814-816)aaC>aaT	p.N272N	TEX33_ENST00000402860.3_Silent_p.N187N|TEX33_ENST00000381821.1_Silent_p.N272N			O43247	EAN57_HUMAN	testis expressed 33	272											NA						TGGATTTGCTGTTTTCTCCAT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													188	180	182			NA	NA	22		NA											NA				37387247		2203	4300	6503	SO:0001819	synonymous_variant			BC042635	CCDS13937.1, CCDS54524.1	22q12.3	2013-10-11	2012-02-16	2012-02-16	ENSG00000185264	ENSG00000185264	339669	339669			28568	protein-coding gene	gene with protein product			chromosome 22 open reading frame 33	C22orf33	NA	22332119	Standard	NM_178552	NM_178552	NA	Approved	MGC35206, EAN57	uc003aqf.3	O43247	OTTHUMG00000150531	ENST00000405091.2:c.816C>T	22.37:g.37387247G>A		NA	B1AH46|Q6ICF2|Q8IVQ2|Q9Y4V8	37	CCDS54524.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.409488	0.01155	.	.	ENSG00000185264	ENST00000442538	.	.	.	4.96	1.6	0.23607	.	.	.	.	.	.	.	.	.	.	.	0.20764	N	0.999852	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.6234	3.4282	0.07418	0.1685:0.5559:0.1795:0.0961	.	.	.	.	X	131	.	.	Q	-	1	0	C22orf33	35717193	0.197000	0.23362	0.263000	0.24496	0.044000	0.14063	0.733000	0.26087	0.199000	0.20427	-0.344000	0.07964	CAG	TEX33-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318778.2		-	ENST00000405091.2	Silent	SNP	22 : 37387247 - 37387247 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	431	80
SYNGR3	9143	broad.mit.edu	37	16	2042976	2042976	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2042976T>C	ENST00000248121.2	+	4	751	c.593T>C	c.(592-594)gTg>gCg	p.V198A	SYNGR3_ENST00000562045.1_3'UTR	NM_004209.5	NP_004200.2	O43761	SNG3_HUMAN	synaptogyrin 3	198					positive regulation of transporter activity	cell junction|integral to plasma membrane|synaptic vesicle				endometrium(1)|lung(2)	3						GGCTATCCGGTGGGCAGCGGC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	22	22			NA	NA	16		NA											NA				2042976		2193	4294	6487	SO:0001583	missense			AJ002309	CCDS10456.1	16p13.3	2008-05-19			ENSG00000127561	ENSG00000127561	9143	9143			11501	protein-coding gene	gene with protein product		603927			NA	9760194	Standard		NM_004209	NA	Approved		uc002cod.3	O43761	OTTHUMG00000128711	ENST00000248121.2:c.593T>C	16.37:g.2042976T>C	ENSP00000248121:p.Val198Ala	NA	B2R9S0	37	CCDS10456.1	.	.	.	.	.	.	.	.	.	.	t	2.597	-0.293785	0.05568	.	.	ENSG00000127561	ENST00000248121	T	0.12984	2.63	3.63	2.48	0.30137	.	0.367084	0.27442	N	0.019357	T	0.05502	0.0145	N	0.12182	0.205	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31998	-0.9923	10	0.16896	T	0.51	.	3.3863	0.07273	0.0:0.3591:0.0:0.6409	.	198	O43761	SNG3_HUMAN	A	198	ENSP00000248121:V198A	ENSP00000248121:V198A	V	+	2	0	SYNGR3	1982977	0.982000	0.34865	0.994000	0.49952	0.865000	0.49528	2.578000	0.46051	1.512000	0.48834	0.379000	0.24179	GTG	SYNGR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250616.1		+	ENST00000248121.2	Missense_Mutation	SNP	16 : 2042976 - 2042976 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	188	31
ABLIM1	3983	broad.mit.edu	37	10	116203826	116203826	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116203826G>A	ENST00000392952.3	-	12	1251	c.926C>T	c.(925-927)tCt>tTt	p.S309F	ABLIM1_ENST00000369253.2_Missense_Mutation_p.S255F|ABLIM1_ENST00000369252.4_Missense_Mutation_p.S572F|ABLIM1_ENST00000369266.3_Missense_Mutation_p.S309F|ABLIM1_ENST00000277895.5_Missense_Mutation_p.S632F|ABLIM1_ENST00000533213.2_Missense_Mutation_p.S572F	NM_006720.3	NP_006711.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	632	LIM zinc-binding 4.				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GGCTAACAGAGATGACCTTTC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	169	170			NA	NA	10		NA											NA				116203826		2203	4300	6503	SO:0001583	missense			AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204	3983	3983			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM	NA	9245787	Standard		NM_002313	NA	Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000392952.3:c.926C>T	10.37:g.116203826G>A	ENSP00000376679:p.Ser309Phe	NA	A6NI16|A6NJ06|A8MXA9|Q15039|Q5JVV1|Q5JVV2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	37	CCDS31289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.94|12.94	2.089915|2.089915	0.36855|0.36855	.|.	.|.	ENSG00000099204|ENSG00000099204	ENST00000392955|ENST00000336585;ENST00000369252;ENST00000392952;ENST00000369257;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369266;ENST00000369256;ENST00000369260;ENST00000277895;ENST00000369253	.|T;T;T;T	.|0.31510	.|1.49;1.49;1.49;1.49	5.38|5.38	3.41|3.41	0.39046|0.39046	.|.	.|0.709815	.|0.13934	.|N	.|0.352708	T|T	0.33294|0.33294	0.0858|0.0858	M|M	0.69823|0.69823	2.125|2.125	0.19575|0.19575	N|N	0.999963|0.999963	.|B;B;B;B;B;B;B;B;B	.|0.32338	.|0.072;0.072;0.365;0.004;0.013;0.323;0.25;0.044;0.137	.|B;B;B;B;B;B;B;B;B	.|0.37451	.|0.012;0.026;0.201;0.004;0.015;0.25;0.127;0.021;0.072	T|T	0.19976|0.19976	-1.0289|-1.0289	5|10	.|0.20046	.|T	.|0.44	.|.	8.4459|8.4459	0.32841|0.32841	0.0781:0.0:0.77:0.152|0.0781:0.0:0.77:0.152	.|.	.|509;234;572;600;632;309;602;556;255	.|B7Z4H1;B4DQA3;F8W8M4;A6NKJ2;O14639;O14639-5;B3KVH2;C9K0X4;O14639-4	.|.;.;.;.;ABLM1_HUMAN;.;.;.;.	F|F	506|632;572;309;255;600;572;700;556;309;556;509;700;384	.|ENSP00000358256:S572F;ENSP00000376679:S309F;ENSP00000433629:S572F;ENSP00000358270:S309F	.|ENSP00000277895:S700F	L|S	-|-	1|2	0|0	ABLIM1|ABLIM1	116193816|116193816	0.988000|0.988000	0.35896|0.35896	0.013000|0.013000	0.15412|0.15412	0.975000|0.975000	0.68041|0.68041	2.994000|2.994000	0.49433|0.49433	1.271000|1.271000	0.44313|0.44313	0.591000|0.591000	0.81541|0.81541	CTC|TCT	ABLIM1-009	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050477.2		-	ENST00000392952.3	Missense_Mutation	SNP	10 : 116203826 - 116203826 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	738	147
NRROS	375387	broad.mit.edu	37	3	196386811	196386811	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196386811C>T	ENST00000328557.4	+	3	500	c.297C>T	c.(295-297)ggC>ggT	p.G99G		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species	NA											NA						TCAGCCGCGGCGCCTTCCAGG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	42	43			NA	NA	3		NA											NA				196386811		2203	4300	6503	SO:0001819	synonymous_variant			AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004	375387	375387			24613	protein-coding gene	gene with protein product		615322	leucine rich repeat containing 33	LRRC33	NA	12975309	Standard	NM_198565	NM_198565	NA	Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.297C>T	3.37:g.196386811C>T		NA		37	CCDS3319.1																																																																																			NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340676.1		+	ENST00000328557.4	Silent	SNP	3 : 196386811 - 196386811 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	43
ZBTB39	9880	broad.mit.edu	37	12	57397725	57397725	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57397725C>A	ENST00000300101.2	-	2	1062	c.977G>T	c.(976-978)aGt>aTt	p.S326I		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						CTCATCCTCACTGTCATCACT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													236	211	220			NA	NA	12		NA											NA				57397725		2203	4300	6503	SO:0001583	missense			AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860	9880	9880		-, BTB/POZ domain containing, Zinc fingers, C2H2-type	29014	protein-coding gene	gene with protein product					NA	9205841	Standard	NM_014830	NM_014830	NA	Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.977G>T	12.37:g.57397725C>A	ENSP00000300101:p.Ser326Ile	NA	A7MD38|Q9UD98	37	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842889	0.51057	.	.	ENSG00000166860	ENST00000300101	T	0.09723	2.95	4.9	4.9	0.64082	.	0.161766	0.56097	D	0.000036	T	0.23410	0.0566	L	0.38175	1.15	0.47862	D	0.999532	D	0.65815	0.995	D	0.75484	0.986	T	0.00494	-1.1706	10	0.40728	T	0.16	-11.7735	15.6413	0.77006	0.0:1.0:0.0:0.0	.	326	O15060	ZBT39_HUMAN	I	326	ENSP00000300101:S326I	ENSP00000300101:S326I	S	-	2	0	ZBTB39	55683992	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.722000	0.54948	2.547000	0.85894	0.655000	0.94253	AGT	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411214.1		-	ENST00000300101.2	Missense_Mutation	SNP	12 : 57397725 - 57397725 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1071	106
NRP2	8828	broad.mit.edu	37	2	206659526	206659526	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206659526C>A	ENST00000360409.3	+	17	3331	c.2540C>A	c.(2539-2541)tCt>tAt	p.S847Y	NRP2_ENST00000540841.1_Missense_Mutation_p.S825Y|NRP2_ENST00000540178.1_Missense_Mutation_p.S842Y|NRP2_ENST00000357785.5_Missense_Mutation_p.S842Y|NRP2_ENST00000412873.2_Missense_Mutation_p.S825Y	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	847					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						ACCTCAGGGTCTGGCGCCCCC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	81	82			NA	NA	2		NA											NA				206659526		2203	4300	6503	SO:0001583	missense			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257	8828	8828			8005	protein-coding gene	gene with protein product		602070			NA	9529250, 9331348	Standard		NM_003872	NA	Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000360409.3:c.2540C>A	2.37:g.206659526C>A	ENSP00000353582:p.Ser847Tyr	NA	O14820|O14821|Q53TQ4|Q53TS3|Q9H2D4|Q9H2D5|Q9H2E3|Q9H2E4	37	CCDS2364.1	.	.	.	.	.	.	.	.	.	.	C	7.391	0.630746	0.14322	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000357785;ENST00000412873	D;D;D;D;D	0.88046	-2.2;-2.22;-2.29;-2.26;-2.33	5.93	5.93	0.95920	.	0.331275	0.31624	N	0.007325	T	0.75384	0.3842	N	0.08118	0	0.49915	D	0.999834	P;B;B	0.39282	0.666;0.205;0.14	B;B;B	0.36608	0.229;0.107;0.197	T	0.79274	-0.1871	10	0.59425	D	0.04	-6.0122	13.5312	0.61623	0.0:0.9294:0.0:0.0706	.	825;842;847	O60462-2;O60462-3;O60462	.;.;NRP2_HUMAN	Y	847;842;825;842;825	ENSP00000353582:S847Y;ENSP00000439658:S842Y;ENSP00000439261:S825Y;ENSP00000350432:S842Y;ENSP00000407626:S825Y	ENSP00000350432:S842Y	S	+	2	0	NRP2	206367771	0.915000	0.31059	0.406000	0.26421	0.046000	0.14306	2.831000	0.48144	2.826000	0.97356	0.655000	0.94253	TCT	NRP2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256392.1		+	ENST00000360409.3	Missense_Mutation	SNP	2 : 206659526 - 206659526 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	672	125
DNAH3	55567	broad.mit.edu	37	16	20975154	20975154	+	Missense_Mutation	SNP	T	T	C	rs143271654		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20975154T>C	ENST00000261383.3	-	53	10051	c.10052A>G	c.(10051-10053)gAc>gGc	p.D3351G	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3351					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGTGAAATGGTCAATGATGTA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	133	147			NA	NA	16		NA											NA				20975154		2201	4300	6501	SO:0001583	missense			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486	55567	55567		Axonemal dyneins	2949	protein-coding gene	gene with protein product		603334	dynein, axonemal, heavy polypeptide 3		NA	9256245, 9373155	Standard	NM_017539	NM_017539	NA	Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10052A>G	16.37:g.20975154T>C	ENSP00000261383:p.Asp3351Gly	NA	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	7.842	0.722045	0.15372	.	.	ENSG00000158486	ENST00000261383	T	0.61980	0.06	5.78	5.78	0.91487	.	0.343223	0.30401	N	0.009716	T	0.66396	0.2785	M	0.87328	2.875	0.80722	D	1	B	0.14012	0.009	B	0.12837	0.008	T	0.67741	-0.5592	10	0.72032	D	0.01	.	10.4542	0.44539	0.0:0.0724:0.0:0.9276	.	3351	Q8TD57	DYH3_HUMAN	G	3351	ENSP00000261383:D3351G	ENSP00000261383:D3351G	D	-	2	0	DNAH3	20882655	0.878000	0.30173	0.693000	0.30195	0.054000	0.15201	2.893000	0.48633	2.207000	0.71202	0.460000	0.39030	GAC	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207361.1		-	ENST00000261383.3	Missense_Mutation	SNP	16 : 20975154 - 20975154 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	683	134
DDX4	54514	broad.mit.edu	37	5	55094363	55094363	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55094363A>C	ENST00000505374.1	+	18	1671	c.1579A>C	c.(1579-1581)Aaa>Caa	p.K527Q	DDX4_ENST00000353507.5_Missense_Mutation_p.K493Q|DDX4_ENST00000514278.2_Missense_Mutation_p.K507Q|DDX4_ENST00000511853.1_Missense_Mutation_p.K378Q|DDX4_ENST00000354991.5_Missense_Mutation_p.K493Q	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	527					multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				CCAGTTCTCAAAAAGAGAAAA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	122	123			NA	NA	5		NA											NA				55094363		2203	4300	6503	SO:0001583	missense			AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670	54514	54514		DEAD-boxes	18700	protein-coding gene	gene with protein product		605281	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4		NA	10920202, 11850529	Standard	NM_024415	NM_001142549	NA	Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.1579A>C	5.37:g.55094363A>C	ENSP00000424838:p.Lys527Gln	NA	A8K8Q2|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	37	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.575244	0.86542	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000354991;ENST00000511853	D;D;D;T;D;D	0.96459	-4.02;-4.02;-4.02;2.4;-4.02;-4.02	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.99048	0.9674	H	0.99336	4.52	0.58432	D	0.999993	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.99066	1.0832	10	0.87932	D	0	-17.7786	15.951	0.79840	1.0:0.0:0.0:0.0	.	507;378;493;527	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	Q	493;507;527;507;493;378	ENSP00000334167:K493Q;ENSP00000425359:K507Q;ENSP00000424838:K527Q;ENSP00000427167:K507Q;ENSP00000347087:K493Q;ENSP00000423123:K378Q	ENSP00000334167:K493Q	K	+	1	0	DDX4	55130120	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	8.871000	0.92346	2.172000	0.68678	0.533000	0.62120	AAA	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214147.2		+	ENST00000505374.1	Missense_Mutation	SNP	5 : 55094363 - 55094363 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	593	113
CLOCK	9575	broad.mit.edu	37	4	56345083	56345083	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56345083A>C	ENST00000309964.4	-	5	405	c.155T>G	c.(154-156)gTt>gGt	p.V52G	CLOCK_ENST00000506923.1_5'UTR|CLOCK_ENST00000513440.1_Missense_Mutation_p.V52G|CLOCK_ENST00000381322.1_Missense_Mutation_p.V52G	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	52	Helix-loop-helix motif.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			tttaatgagaacattAAATTG	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	54	54			NA	NA	4		NA											NA				56345083		2199	4297	6496	SO:0001583	missense			AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852	9575	9575		Chromatin-modifying enzymes / K-acetyltransferases, Basic helix-loop-helix proteins	2082	protein-coding gene	gene with protein product		601851	clock (mouse) homolog, clock homolog (mouse)		NA	10198158	Standard	NM_004898	NM_001267843	NA	Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.155T>G	4.37:g.56345083A>C	ENSP00000308741:p.Val52Gly	NA	A0AV01|A2I2N9|O14516|Q9UIT8	37	CCDS3500.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.817389	0.90790	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	D;D;D	0.97831	-4.56;-4.56;-4.56	6.07	6.07	0.98685	Helix-loop-helix DNA-binding (5);	0.165289	0.53938	D	0.000054	D	0.95771	0.8624	L	0.34521	1.04	0.80722	D	1	B	0.28636	0.218	B	0.33121	0.158	D	0.94396	0.7618	10	0.87932	D	0	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	52	O15516	CLOCK_HUMAN	G	52	ENSP00000308741:V52G;ENSP00000370723:V52G;ENSP00000426983:V52G	ENSP00000308741:V52G	V	-	2	0	CLOCK	56039840	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.324000	0.90005	2.326000	0.78906	0.533000	0.62120	GTT	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361993.2		-	ENST00000309964.4	Missense_Mutation	SNP	4 : 56345083 - 56345083 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	88	17
ARVCF	421	broad.mit.edu	37	22	19969241	19969241	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19969241G>A	ENST00000263207.3	-	5	680	c.389C>T	c.(388-390)aCg>aTg	p.T130M	ARVCF_ENST00000406259.1_Missense_Mutation_p.T130M|ARVCF_ENST00000401994.1_Missense_Mutation_p.T67M|ARVCF_ENST00000344269.3_Missense_Mutation_p.T67M|ARVCF_ENST00000406522.1_Missense_Mutation_p.T67M|ARVCF_ENST00000487793.1_5'UTR	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	130					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					AGTGGTCACCGTCTTGACAGT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	37	35			NA	NA	22		NA											NA				19969241		2190	4262	6452	SO:0001583	missense				CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889	421	421		Armadillo repeat containing	728	protein-coding gene	gene with protein product		602269			NA	9126485, 15456900	Standard	NM_001670	NM_001670	NA	Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.389C>T	22.37:g.19969241G>A	ENSP00000263207:p.Thr130Met	NA	B7WNV2	37	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318548	0.81469	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41	4.1	4.1	0.47936	.	0.000000	0.85682	D	0.000000	T	0.45875	0.1364	M	0.65498	2.005	0.80722	D	1	D	0.69078	0.997	P	0.54210	0.745	T	0.47548	-0.9109	9	.	.	.	-17.9505	16.9177	0.86155	0.0:0.0:1.0:0.0	.	130	O00192	ARVC_HUMAN	M	130;67;67;67;130	ENSP00000263207:T130M;ENSP00000342042:T67M;ENSP00000384341:T67M;ENSP00000384732:T67M;ENSP00000385444:T130M	.	T	-	2	0	ARVCF	18349241	1.000000	0.71417	0.999000	0.59377	0.811000	0.45836	9.227000	0.95236	2.278000	0.76064	0.551000	0.68910	ACG	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075314.5		-	ENST00000263207.3	Missense_Mutation	SNP	22 : 19969241 - 19969241 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	415	85
KDM3B	51780	broad.mit.edu	37	5	137765648	137765648	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137765648C>A	ENST00000314358.5	+	21	5087	c.4887C>A	c.(4885-4887)ctC>ctA	p.L1629L	KDM3B_ENST00000542866.1_Silent_p.L661L|KDM3B_ENST00000394866.1_Silent_p.L1285L	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1629	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GGGAGCTGCTCCGAAAGGTAC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	56	56			NA	NA	5		NA											NA				137765648		2203	4300	6503	SO:0001819	synonymous_variant			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733	51780	51780		Chromatin-modifying enzymes / K-demethylases	1337	protein-coding gene	gene with protein product		609373	chromosome 5 open reading frame 7, jumonji domain containing 1B	C5orf7, JMJD1B	NA	15138608	Standard	NM_016604	NM_016604	NA	Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.4887C>A	5.37:g.137765648C>A		NA	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	37	CCDS34242.1																																																																																			KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373597.1		+	ENST00000314358.5	Silent	SNP	5 : 137765648 - 137765648 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	214	41
WNT5A	7474	broad.mit.edu	37	3	55508452	55508452	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:55508452G>T	ENST00000474267.1	-	5	1118	c.597C>A	c.(595-597)gcC>gcA	p.A199A	WNT5A_ENST00000497027.1_Silent_p.A184A|WNT5A_ENST00000264634.4_Silent_p.A199A			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	199					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CCCGCTCGCGGGCGTCCACGA	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	20	18			NA	NA	3		NA											NA				55508452		2121	4263	6384	SO:0001819	synonymous_variant			L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251	7474	7474		Wingless-type MMTV integration sites, Endogenous ligands	12784	protein-coding gene	gene with protein product	WNT-5A protein	164975			NA	8288227	Standard	NM_003392	NM_001256105	NA	Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.597C>A	3.37:g.55508452G>T		NA	A8K4A4|Q6P278	37	CCDS46850.1																																																																																			WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350793.3		-	ENST00000474267.1	Silent	SNP	3 : 55508452 - 55508452 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	143	24
CAMTA1	23261	broad.mit.edu	37	1	7724600	7724600	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7724600C>T	ENST00000303635.7	+	9	2200	c.1993C>T	c.(1993-1995)Cgg>Tgg	p.R665W	CAMTA1_ENST00000439411.2_Missense_Mutation_p.R665W	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	665					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)		CGTGGAGACGCGGATCGAGTC	0.637		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													108	102	104			NA	NA	1		NA											NA				7724600		2203	4300	6503	SO:0001583	missense			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.1993C>T	1.37:g.7724600C>T	ENSP00000306522:p.Arg665Trp	NA	A7MBM4|Q5VUE1|Q6V701|Q8WYI3	37	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	c	13.11	2.137842	0.37728	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.21191	2.02;2.02	5.36	4.44	0.53790	.	0.634518	0.15611	N	0.253369	T	0.32376	0.0827	L	0.44542	1.39	0.35016	D	0.757345	D	0.69078	0.997	P	0.56434	0.798	T	0.44019	-0.9355	10	0.72032	D	0.01	-21.6128	12.6059	0.56523	0.4566:0.5434:0.0:0.0	.	665	Q9Y6Y1	CMTA1_HUMAN	W	665	ENSP00000306522:R665W;ENSP00000402561:R665W	ENSP00000306522:R665W	R	+	1	2	CAMTA1	7647187	0.004000	0.15560	0.799000	0.32177	0.742000	0.42306	0.064000	0.14437	1.253000	0.44018	0.498000	0.49722	CGG	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000003588.3		+	ENST00000303635.7	Missense_Mutation	SNP	1 : 7724600 - 7724600 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	992	78
P4HA2	8974	broad.mit.edu	37	5	131546055	131546055	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131546055C>T	ENST00000401867.1	-	7	1199	c.631G>A	c.(631-633)Gac>Aac	p.D211N	P4HA2_ENST00000360568.3_Missense_Mutation_p.D211N|P4HA2_ENST00000379100.2_Missense_Mutation_p.D211N|P4HA2_ENST00000379086.1_Missense_Mutation_p.D211N|P4HA2_ENST00000166534.4_Missense_Mutation_p.D211N|P4HA2_ENST00000379104.2_Missense_Mutation_p.D211N			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	211						endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CTGAGGTAGTCCAGCACCTGT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(68;117 1135 17362 19256 34242)							NA				0													202	185	191			NA	NA	5		NA											NA				131546055		2203	4300	6503	SO:0001583	missense			U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	8974	8974	1.14.11.2		8547	protein-coding gene	gene with protein product	4-PH alpha 2, collagen prolyl 4-hydroxylase alpha(II)	600608	procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II		NA	9211872, 9149945	Standard	NM_004199	NM_001142598	NA	Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.631G>A	5.37:g.131546055C>T	ENSP00000384999:p.Asp211Asn	NA	D3DQ85|D3DQ86|Q8WWN0	37	CCDS4151.1	.	.	.	.	.	.	.	.	.	.	C	36	5.842700	0.97016	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100	T;T;T;T;T;T	0.48836	0.81;0.8;0.81;0.8;0.81;0.8	5.92	5.92	0.95590	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.74574	0.3734	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.988;0.998	T	0.77112	-0.2708	10	0.87932	D	0	-0.8403	20.3151	0.98650	0.0:1.0:0.0:0.0	.	211;211	O15460;O15460-2	P4HA2_HUMAN;.	N	211	ENSP00000384999:D211N;ENSP00000368379:D211N;ENSP00000166534:D211N;ENSP00000353772:D211N;ENSP00000368398:D211N;ENSP00000368394:D211N	ENSP00000166534:D211N	D	-	1	0	P4HA2	131573954	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.776000	0.85560	2.809000	0.96659	0.467000	0.42956	GAC	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132653.4		-	ENST00000401867.1	Missense_Mutation	SNP	5 : 131546055 - 131546055 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	828	131
TOX2	84969	broad.mit.edu	37	20	42694624	42694624	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42694624C>T	ENST00000358131.5	+	6	1387	c.1179C>T	c.(1177-1179)caC>caT	p.H393H	TOX2_ENST00000341197.4_Silent_p.H411H|TOX2_ENST00000423191.2_Silent_p.H369H|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000372999.1_Silent_p.H369H	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	393	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TGCCCCCTCACGCCCAGGGCG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,,	1,4403	2.1+/-5.4	0,1,2201	27	30	29		1107,1233,1179,1107	-1.5	1	20		29	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TOX2	NM_001098796.1,NM_001098797.1,NM_001098798.1,NM_032883.2	,,,	0,1,6500	TT,TC,CC	NA	0.0,0.0227,0.0077	,,,	369/465,411/507,393/489,369/465	42694624	1,13001	2202	4299	6501	SO:0001819	synonymous_variant			BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20			84969	84969			16095	protein-coding gene	gene with protein product	granulosa cell HMG box 1	611163	chromosome 20 open reading frame 100	C20orf100	NA	14764631	Standard		NM_001098796	NA	Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.1179C>T	20.37:g.42694624C>T		NA	Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	37	CCDS42875.1																																																																																			TOX2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079329.2		+	ENST00000358131.5	Silent	SNP	20 : 42694624 - 42694624 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	56
DOCK1	1793	broad.mit.edu	37	10	129242446	129242446	+	Silent	SNP	C	C	T	rs143736792	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129242446C>T	ENST00000280333.6	+	50	5362	c.5253C>T	c.(5251-5253)agC>agT	p.S1751S		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1751					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.S1751S(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TCATTGGAAGCGAAAGGCGCT	0.557		NA											C	7	0.0032	0.01	0.0028	2184	NA	0.9998	,	,	NA	3e-04	NA	NA	NA	0.0033	0.9684	LOWCOV	NA	NA	3e-04	SNP								NA				1	Substitution - coding silent(1)	large_intestine(1)						C		51,3997		0,51,1973	87	99	95		5208	-7.9	0	10	dbSNP_134	95	2,8332		0,2,4165	no	coding-synonymous	DOCK1	NM_001380.3		0,53,6138	TT,TC,CC	NA	0.024,1.2599,0.428		1736/1851	129242446	53,12329	2024	4167	6191	SO:0001819	synonymous_variant			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760	1793	1793			2987	protein-coding gene	gene with protein product	DOwnstream of CrK	601403	dedicator of cyto-kinesis 1		NA	8657152, 8661160	Standard	NM_001380	XM_006717681	NA	Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.5253C>T	10.37:g.129242446C>T		NA	A9Z1Z5	37																																																																																				DOCK1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000050979.2		+	ENST00000280333.6	Silent	SNP	10 : 129242446 - 129242446 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	94	19
GRM4	2914	broad.mit.edu	37	6	33996020	33996020	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33996020G>A	ENST00000538487.2	-	10	3009	c.2566C>T	c.(2566-2568)Cgc>Tgc	p.R856C	GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374181.4_Missense_Mutation_p.R856C|GRM4_ENST00000544773.2_Missense_Mutation_p.R687C|GRM4_ENST00000535756.1_Missense_Mutation_p.R723C|GRM4_ENST00000609222.1_Missense_Mutation_p.R723C|GRM4_ENST00000374177.3_Missense_Mutation_p.R740C|GRM4_ENST00000455714.2_Missense_Mutation_p.R716C	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	NA					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CTGCGCTTGCGCTTGGGCACG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	119	100	106		2566	4.2	1	6		106	0,8600		0,0,4300	no	missense	GRM4	NM_000841.1	180	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging	856/913	33996020	1,13005	2203	4300	6503	SO:0001583	missense			U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493	2914	2914		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4596	protein-coding gene	gene with protein product		604100			NA	8738157, 9473604	Standard		NM_000841	NA	Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2566C>T	6.37:g.33996020G>A	ENSP00000440556:p.Arg856Cys	NA	Q5SZ84	37	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	G	31	5.059421	0.93846	2.27E-4	0.0	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.88975	-2.45;-2.45;-2.2;-2.25;-2.27;-2.45;-2.29	4.18	4.18	0.49190	GPCR, family 3, C-terminal (1);	0.306877	0.30630	N	0.009217	D	0.90480	0.7018	M	0.71206	2.165	0.80722	D	1	B;D;D;D;D	0.76494	0.175;0.972;0.999;0.997;0.989	B;P;P;P;P	0.56916	0.039;0.582;0.809;0.649;0.677	D	0.89596	0.3831	10	0.37606	T	0.19	.	16.6736	0.85273	0.0:0.0:1.0:0.0	.	809;687;716;856;723	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	C	856;740;548;723;687;856;716	ENSP00000363296:R856C;ENSP00000363292:R740C;ENSP00000445533:R548C;ENSP00000437925:R723C;ENSP00000437730:R687C;ENSP00000440556:R856C;ENSP00000398456:R716C	ENSP00000363292:R740C	R	-	1	0	GRM4	34103998	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.370000	0.73114	2.160000	0.67779	0.478000	0.44815	CGC	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040213.2		-	ENST00000538487.2	Missense_Mutation	SNP	6 : 33996020 - 33996020 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	619	127
ZNF512B	57473	broad.mit.edu	37	20	62592748	62592748	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62592748C>T	ENST00000450537.1	-	16	2401	c.2341G>A	c.(2341-2343)Gca>Aca	p.A781T	ZNF512B_ENST00000369888.1_Missense_Mutation_p.A781T|ZNF512B_ENST00000217130.3_Missense_Mutation_p.A781T			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	781					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TACTTCCCTGCCAGGTGGGCC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	79	83			NA	NA	20		NA											NA				62592748		2202	4300	6502	SO:0001583	missense			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700	57473	57473			29212	protein-coding gene	gene with protein product					NA	10574462	Standard	NM_020713	NM_020713	NA	Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.2341G>A	20.37:g.62592748C>T	ENSP00000393795:p.Ala781Thr	NA	Q08AK9|Q9ULM4	37	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.460950	0.26248	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.24151	1.87;1.87;1.87	5.23	5.23	0.72850	.	0.252101	0.34314	N	0.004076	T	0.18759	0.0450	N	0.17082	0.46	0.23559	N	0.997415	B	0.33777	0.425	B	0.32465	0.146	T	0.12016	-1.0564	10	0.28530	T	0.3	-10.0442	18.7906	0.91973	0.0:1.0:0.0:0.0	.	781	Q96KM6	Z512B_HUMAN	T	781	ENSP00000358904:A781T;ENSP00000393795:A781T;ENSP00000217130:A781T	ENSP00000217130:A781T	A	-	1	0	ZNF512B	62063192	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	3.092000	0.50207	2.448000	0.82819	0.591000	0.81541	GCA	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080246.1		-	ENST00000450537.1	Missense_Mutation	SNP	20 : 62592748 - 62592748 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	29
PCDH10	57575	broad.mit.edu	37	4	134071416	134071416	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134071416C>A	ENST00000264360.5	+	1	947	c.121C>A	c.(121-123)Ctg>Atg	p.L41M		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	NA	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CGCTGAAGATCTGGGTCTGGA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	121	122			NA	NA	4		NA											NA				134071416		2203	4300	6503	SO:0001583	missense			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650	57575	57575		Cadherins / Protocadherins : Non-clustered	13404	protein-coding gene	gene with protein product		608286			NA	10835267	Standard	NM_032961	NM_020815	NA	Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.121C>A	4.37:g.134071416C>A	ENSP00000264360:p.Leu41Met	NA	Q4W5F6	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640984	0.47153	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.59364	0.27	4.77	3.06	0.35304	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	0.000000	0.35436	N	0.003220	T	0.77579	0.4151	M	0.91140	3.18	0.52099	D	0.999947	D;D	0.89917	0.999;1.0	D;D	0.97110	0.999;1.0	T	0.78234	-0.2283	10	0.87932	D	0	.	8.4123	0.32651	0.0:0.7561:0.0:0.2439	.	41;41	Q9P2E7;Q96SF0	PCD10_HUMAN;.	M	41	ENSP00000264360:L41M	ENSP00000264360:L41M	L	+	1	2	PCDH10	134290866	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.212000	0.51145	0.617000	0.30160	-0.263000	0.10527	CTG	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364457.2		+	ENST00000264360.5	Missense_Mutation	SNP	4 : 134071416 - 134071416 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	585	16
FOXJ2	55810	broad.mit.edu	37	12	8203160	8203160	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8203160G>A	ENST00000162391.3	+	10	2725	c.1580G>A	c.(1579-1581)gGc>gAc	p.G527D	FOXJ2_ENST00000539192.1_3'UTR	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	527					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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 factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		CTCTACCCTGGCCCATCACCA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	117	120			NA	NA	12		NA											NA				8203160		2203	4300	6503	SO:0001583	missense			AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970	55810	55810		Forkhead boxes	24818	protein-coding gene	gene with protein product					NA	10777590, 10966786	Standard	NM_018416	NM_018416	NA	Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.1580G>A	12.37:g.8203160G>A	ENSP00000162391:p.Gly527Asp	NA	A0AVK4|B2RMP3|Q96PS9|Q9NSN5	37	CCDS8587.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358698	0.82243	.	.	ENSG00000065970	ENST00000162391	D	0.94457	-3.43	5.13	5.13	0.70059	.	0.799837	0.11621	N	0.545746	D	0.96009	0.8700	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.93264	0.6646	10	0.34782	T	0.22	.	13.9541	0.64137	0.0:0.0:1.0:0.0	.	527	Q9P0K8	FOXJ2_HUMAN	D	527	ENSP00000162391:G527D	ENSP00000162391:G527D	G	+	2	0	FOXJ2	8094427	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.819000	0.69243	2.655000	0.90218	0.655000	0.94253	GGC	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400088.1		+	ENST00000162391.3	Missense_Mutation	SNP	12 : 8203160 - 8203160 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	425	65
CNBD2	140894	broad.mit.edu	37	20	34582960	34582960	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34582960G>A	ENST00000373973.3	+	8	1029	c.856G>A	c.(856-858)Ggc>Agc	p.G286S	CNBD2_ENST00000538900.1_Splice_Site_p.G286S|CNBD2_ENST00000349339.1_Splice_Site_p.G286S					cyclic nucleotide binding domain containing 2	NA											NA						CTGTGTTCAGGGCAGCTGTGA	0.517		NA									OREG0025897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	90	97			NA	NA	20		NA											NA				34582960		2203	4300	6503	SO:0001630	splice_region_variant			AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646	140894	140894			16145	protein-coding gene	gene with protein product			chromosome 20 open reading frame 152, cyclic nucleotide (cNMP) binding domain containing 1	C20orf152, CNMPD1	NA	11780052	Standard	NM_080834	NM_080834	NA	Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.856-1G>A	20.37:g.34582960G>A		848		37		.	.	.	.	.	.	.	.	.	.	G	23.1	4.369411	0.82463	.	.	ENSG00000149646	ENST00000373973;ENST00000349339;ENST00000538900	D;D;D	0.94931	-3.56;-3.56;-3.56	4.79	4.79	0.61399	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.64402	D	0.000002	D	0.96442	0.8839	M	0.72894	2.215	0.37752	D	0.926012	D;D	0.89917	1.0;1.0	D;D	0.77557	0.977;0.99	D	0.96279	0.9205	9	.	.	.	-20.4217	13.6483	0.62294	0.0:0.0:1.0:0.0	.	286;286	Q96M20;Q96M20-2	CT152_HUMAN;.	S	286	ENSP00000363084:G286S;ENSP00000340954:G286S;ENSP00000442729:G286S	.	G	+	1	0	C20orf152	34046374	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	3.703000	0.54808	2.941000	0.99782	0.655000	0.94253	GGC	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000078960.2	Missense_Mutation	+	ENST00000373973.3	Splice_Site	SNP	20 : 34582960 - 34582960 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	305	40
HTATSF1	27336	broad.mit.edu	37	X	135593823	135593823	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135593823A>G	ENST00000218364.4	+	9	2093	c.1919A>G	c.(1918-1920)gAt>gGt	p.D640G	HTATSF1_ENST00000535601.1_Missense_Mutation_p.D640G	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	640	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GTATTTGATGATGAGTCTGAT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	120	121			NA	NA	X		NA											NA				135593823		2202	4300	6502	SO:0001583	missense			U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241	27336	27336		RNA binding motif (RRM) containing	5276	protein-coding gene	gene with protein product		300346	HIV TAT specific factor 1		NA	8849451	Standard	NM_014500	NM_014500	NA	Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.1919A>G	X.37:g.135593823A>G	ENSP00000218364:p.Asp640Gly	NA	D3DWG9|Q59G06|Q99730	37	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	A	11.53	1.665511	0.29604	.	.	ENSG00000102241	ENST00000535601;ENST00000218364;ENST00000415377	T;T	0.04234	3.67;3.67	4.23	3.08	0.35506	.	0.664421	0.13400	N	0.390668	T	0.03783	0.0107	N	0.19112	0.55	0.27948	N	0.937253	B	0.19200	0.034	B	0.15052	0.012	T	0.32455	-0.9906	10	0.87932	D	0	-7.1752	7.1947	0.25845	0.8905:0.0:0.1095:0.0	.	640	O43719	HTSF1_HUMAN	G	640	ENSP00000442699:D640G;ENSP00000218364:D640G	ENSP00000218364:D640G	D	+	2	0	HTATSF1	135421489	0.949000	0.32298	0.893000	0.35052	0.617000	0.37484	2.624000	0.46444	0.779000	0.33543	0.425000	0.28330	GAT	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058497.1		+	ENST00000218364.4	Missense_Mutation	SNP	X : 135593823 - 135593823 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	520	157
DAAM2	23500	broad.mit.edu	37	6	39855321	39855321	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39855321G>A	ENST00000398904.2	+	16	2195	c.2013G>A	c.(2011-2013)tcG>tcA	p.S671S	DAAM2_ENST00000274867.4_Silent_p.S671S|DAAM2_ENST00000538976.1_Silent_p.S671S|RP11-61I13.3_ENST00000607675.1_RNA			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	671	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					AAGAGCTGTCGGTCATTGATG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	75	73			NA	NA	6		NA											NA				39855321		1950	4145	6095	SO:0001819	synonymous_variant			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122	23500	23500			18143	protein-coding gene	gene with protein product		606627			NA	11779461, 12632087	Standard		NM_015345	NA	Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2013G>A	6.37:g.39855321G>A		NA	Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	37	CCDS56426.1																																																																																			DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280648.1		+	ENST00000398904.2	Silent	SNP	6 : 39855321 - 39855321 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	128	26
NICN1	84276	broad.mit.edu	37	3	49463818	49463818	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49463818C>A	ENST00000273598.3	-	2	262	c.176G>T	c.(175-177)aGc>aTc	p.S59I	NICN1_ENST00000436744.2_Missense_Mutation_p.S59I|NICN1_ENST00000422593.1_5'UTR	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN	nicolin 1	59						microtubule|nucleus				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GACACGGATGCTCAAAAAAGC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	78	82			NA	NA	3		NA											NA				49463818		2203	4300	6503	SO:0001583	missense			AJ299740	CCDS2798.1	3p21.31	2008-07-18			ENSG00000145029	ENSG00000145029	84276	84276			18317	protein-coding gene	gene with protein product		611516			NA	12392556	Standard	NM_032316	NM_032316	NA	Approved	MGC12936	uc003cwz.1	Q9BSH3	OTTHUMG00000156848	ENST00000273598.3:c.176G>T	3.37:g.49463818C>A	ENSP00000273598:p.Ser59Ile	NA	Q8IZQ2	37	CCDS2798.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114469	0.37339	.	.	ENSG00000145029	ENST00000273598;ENST00000430622;ENST00000436744	T;T	0.23754	1.89;1.89	5.08	2.15	0.27550	.	0.164124	0.51477	D	0.000081	T	0.23572	0.0570	L	0.38175	1.15	0.36469	D	0.867172	B;B	0.17038	0.02;0.02	B;B	0.23574	0.047;0.031	T	0.16958	-1.0385	10	0.72032	D	0.01	-33.9236	15.564	0.76273	0.0:0.3431:0.6568:0.0	.	59;59	B4DX77;Q9BSH3	.;NICN1_HUMAN	I	59	ENSP00000273598:S59I;ENSP00000402335:S59I	ENSP00000273598:S59I	S	-	2	0	NICN1	49438822	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	1.786000	0.38694	0.124000	0.18369	0.655000	0.94253	AGC	NICN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346224.3		-	ENST00000273598.3	Missense_Mutation	SNP	3 : 49463818 - 49463818 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	282	19
DIP2A	23181	broad.mit.edu	37	21	47931507	47931507	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47931507C>T	ENST00000400274.1	+	8	1303	c.1070C>T	c.(1069-1071)gCc>gTc	p.A357V	DIP2A_ENST00000318711.7_Missense_Mutation_p.A362V|DIP2A_ENST00000427143.2_Missense_Mutation_p.A297V|DIP2A_ENST00000435722.3_Missense_Mutation_p.A361V|DIP2A_ENST00000466639.1_Missense_Mutation_p.A318V|DIP2A_ENST00000417564.2_Missense_Mutation_p.A361V|DIP2A_ENST00000457905.3_Missense_Mutation_p.A361V			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	361					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		ACTGGGAAAGCCGTCTACACT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	46	46			NA	NA	21		NA											NA				47931507		1987	4174	6161	SO:0001583	missense			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305	23181	23181			17217	protein-coding gene	gene with protein product		607711	chromosome 21 open reading frame 106	C21orf106	NA		Standard	NM_015151	NM_015151	NA	Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000400274.1:c.1070C>T	21.37:g.47931507C>T	ENSP00000383133:p.Ala357Val	NA	A6P4T3|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	37	CCDS54490.1	.	.	.	.	.	.	.	.	.	.	C	4.724	0.134557	0.09032	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03	5.34	5.34	0.76211	.	0.147808	0.46145	D	0.000305	T	0.49779	0.1577	L	0.46157	1.445	0.58432	D	0.999991	B;B;D;B;B;B	0.59767	0.003;0.001;0.986;0.302;0.002;0.01	B;B;P;B;B;B	0.52481	0.013;0.026;0.7;0.254;0.015;0.056	T	0.40175	-0.9577	10	0.35671	T	0.21	-18.538	18.0406	0.89318	0.0:1.0:0.0:0.0	.	362;297;318;361;361;361	E9PER1;E7EMA5;Q14689-3;Q14689;Q14689-4;Q14689-2	.;.;.;DIP2A_HUMAN;.;.	V	357;297;362;318;361;318;361;361	ENSP00000383133:A357V;ENSP00000400528:A297V;ENSP00000323633:A362V;ENSP00000393434:A361V;ENSP00000430249:A318V;ENSP00000415089:A361V;ENSP00000392066:A361V	ENSP00000323633:A362V	A	+	2	0	DIP2A	46755935	1.000000	0.71417	0.997000	0.53966	0.033000	0.12548	5.959000	0.70339	2.505000	0.84491	0.563000	0.77884	GCC	DIP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207431.1		+	ENST00000400274.1	Missense_Mutation	SNP	21 : 47931507 - 47931507 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	127	12
ANKIB1	54467	broad.mit.edu	37	7	92027950	92027950	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92027950C>A	ENST00000265742.3	+	20	3333	c.2957C>A	c.(2956-2958)gCc>gAc	p.A986D		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	986							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAGAGTATTGCCCTGATTCCT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	99	100			NA	NA	7		NA											NA				92027950		1980	4167	6147	SO:0001583	missense			AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629	54467	54467		Ankyrin repeat domain containing	22215	protein-coding gene	gene with protein product					NA		Standard		NM_019004	NA	Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.2957C>A	7.37:g.92027950C>A	ENSP00000265742:p.Ala986Asp	NA	Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	37	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388527	0.61956	.	.	ENSG00000001629	ENST00000265742	T	0.14640	2.49	5.35	4.47	0.54385	.	0.165804	0.56097	D	0.000036	T	0.19765	0.0475	L	0.29908	0.895	0.58432	D	0.999996	D;B	0.67145	0.996;0.177	P;B	0.54759	0.76;0.1	T	0.01675	-1.1298	10	0.87932	D	0	.	14.479	0.67567	0.0:0.9296:0.0:0.0704	.	338;986	Q4VBX8;Q9P2G1	.;AKIB1_HUMAN	D	986	ENSP00000265742:A986D	ENSP00000265742:A986D	A	+	2	0	ANKIB1	91865886	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.581000	0.67471	1.627000	0.50400	0.655000	0.94253	GCC	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342018.1		+	ENST00000265742.3	Missense_Mutation	SNP	7 : 92027950 - 92027950 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	534	107
EPN1	29924	broad.mit.edu	37	19	56206203	56206203	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56206203C>T	ENST00000411543.2	+	10	2181	c.1634C>T	c.(1633-1635)gCc>gTc	p.A545V	EPN1_ENST00000085079.7_Missense_Mutation_p.A433V|EPN1_ENST00000270460.6_Missense_Mutation_p.A459V	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	459	3 X 3 AA repeats of N-P-F.|Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CCACCTGCAGCCACACCAACT	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	30	26			NA	NA	19		NA											NA				56206203		2062	4186	6248	SO:0001583	missense			AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245	29924	29924			21604	protein-coding gene	gene with protein product		607262			NA	9723620, 10557078	Standard	NM_013333	NM_001130072	NA	Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000411543.2:c.1634C>T	19.37:g.56206203C>T	ENSP00000406209:p.Ala545Val	NA	Q86ST3|Q9HA18	37	CCDS46198.1	.	.	.	.	.	.	.	.	.	.	C	8.181	0.793851	0.16327	.	.	ENSG00000063245	ENST00000270460;ENST00000085079;ENST00000544375;ENST00000411543	T;T;T	0.15139	2.49;2.49;2.45	4.25	2.07	0.26955	.	0.887707	0.09614	N	0.778490	T	0.05960	0.0155	N	0.02916	-0.46	0.09310	N	0.999997	B;B;B;B	0.12630	0.0;0.006;0.0;0.0	B;B;B;B	0.15052	0.001;0.012;0.001;0.001	T	0.42172	-0.9467	10	0.10111	T	0.7	-1.6637	5.5993	0.17345	0.0:0.7411:0.0:0.2589	.	419;545;459;433	B4DU91;Q9Y6I3-1;Q9Y6I3;Q9Y6I3-3	.;.;EPN1_HUMAN;.	V	459;433;419;545	ENSP00000270460:A459V;ENSP00000085079:A433V;ENSP00000406209:A545V	ENSP00000085079:A433V	A	+	2	0	EPN1	60898015	0.000000	0.05858	0.006000	0.13384	0.383000	0.30230	0.040000	0.13905	1.076000	0.40961	0.561000	0.74099	GCC	EPN1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453612.1		+	ENST00000411543.2	Missense_Mutation	SNP	19 : 56206203 - 56206203 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	90	25
MPP2	4355	broad.mit.edu	37	17	41958122	41958122	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41958122G>A	ENST00000377184.3	-	9	1183	c.1138C>T	c.(1138-1140)Cgg>Tgg	p.R380W	MPP2_ENST00000536246.1_Missense_Mutation_p.R352W|MPP2_ENST00000461854.1_Missense_Mutation_p.R387W|MPP2_ENST00000520305.1_Missense_Mutation_p.R224W|MPP2_ENST00000518766.1_Missense_Mutation_p.R408W|MPP2_ENST00000269095.4_Missense_Mutation_p.R363W|MPP2_ENST00000523501.1_Missense_Mutation_p.R352W	NM_001278371.1|NM_001278372.1|NM_001278373.1|NM_001278374.1|NM_001278375.1|NM_001278376.1	NP_001265300.1|NP_001265301.1|NP_001265302.1|NP_001265303.1|NP_001265304.1|NP_001265305.1	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	387	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		AGGCTGCGCCGTCCCACGCCC	0.607		NA									OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	g	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	4e-04	0.95	LOWCOV	NA	NA	0.0015	SNP								NA				0													100	91	94			NA	NA	17		NA											NA				41958122		2203	4300	6503	SO:0001583	missense				CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852	4355	4355			7220	protein-coding gene	gene with protein product	MAGUK p55 subfamily member 2, discs large, homolog 2	600723		DLG2	NA	7590743	Standard	NM_005374	NM_001278370	NA	Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000377184.3:c.1138C>T	17.37:g.41958122G>A	ENSP00000366389:p.Arg380Trp	905	Q53ES9|Q5CZB9|Q9BQJ2	37		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	24.8	4.566265	0.86439	.	.	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000520305;ENST00000523501;ENST00000536246;ENST00000518766	T;T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17;2.17	5.02	5.02	0.67125	.	.	.	.	.	T	0.55768	0.1941	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66484	-0.5912	9	0.87932	D	0	.	11.3615	0.49646	0.0:0.0:0.8187:0.1813	.	408;380	E7EV80;Q14168-3	.;.	W	380;363;387;224;352;352;408	ENSP00000366389:R380W;ENSP00000269095:R363W;ENSP00000428286:R387W;ENSP00000428136:R224W;ENSP00000430540:R352W;ENSP00000438012:R352W;ENSP00000428182:R408W	ENSP00000269095:R363W	R	-	1	2	MPP2	39313648	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	6.519000	0.73768	2.511000	0.84671	0.485000	0.47835	CGG	MPP2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000258387.1		-	ENST00000377184.3	Missense_Mutation	SNP	17 : 41958122 - 41958122 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	539	101
AKR1C3	8644	broad.mit.edu	37	10	5147842	5147842	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5147842G>A	ENST00000380554.3	+	8	1554	c.902G>A	c.(901-903)aGa>aAa	p.R301K	AKR1C3_ENST00000439082.2_Missense_Mutation_p.R182K|AKR1C3_ENST00000605149.1_Missense_Mutation_p.R278K	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	301					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	GGCCTAGACAGAAATCTCCAC	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	109	108			NA	NA	10		NA											NA				5147842		2203	4300	6503	SO:0001583	missense			L43839	CCDS7063.1, CCDS73062.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000196139	ENSG00000196139	8644	8644	1.1.1.213, 1.1.1.188	Aldo-keto reductases	386	protein-coding gene	gene with protein product	dihydrodiol dehydrogenase X, prostaglandin F synthase, 3-alpha hydroxysteroid dehydrogenase, type II	603966	hydroxysteroid (17-beta) dehydrogenase 5, aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)	HSD17B5	NA	7650035, 9792917	Standard	NM_003739	NM_003739	NA	Approved	KIAA0119, DDX, HAKRB, PGFS	uc021pml.1	P42330	OTTHUMG00000017585	ENST00000380554.3:c.902G>A	10.37:g.5147842G>A	ENSP00000369927:p.Arg301Lys	NA	A8K2V0|Q5T2L1|Q96DJ1|Q96KI8|Q99530|Q9UCX1|Q9UII3|Q9UKL9	37	CCDS7063.1	.	.	.	.	.	.	.	.	.	.	G	6.410	0.443841	0.12164	.	.	ENSG00000196139	ENST00000439082;ENST00000380554	T;T	0.50548	0.74;0.74	2.63	1.65	0.23941	NADP-dependent oxidoreductase domain (2);	0.425790	0.21143	N	0.079453	T	0.19167	0.0460	N	0.02539	-0.55	0.29636	N	0.845116	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.17979	0.02;0.014;0.008	T	0.18398	-1.0338	10	0.21014	T	0.42	.	7.7877	0.29101	0.1407:0.0:0.8593:0.0	.	182;301;301	B4DL37;P42330;Q2XPP3	.;AK1C3_HUMAN;.	K	182;301	ENSP00000401327:R182K;ENSP00000369927:R301K	ENSP00000369927:R301K	R	+	2	0	AKR1C3	5137842	1.000000	0.71417	0.016000	0.15963	0.046000	0.14306	1.844000	0.39269	0.391000	0.25143	0.491000	0.48974	AGA	AKR1C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046533.2		+	ENST00000380554.3	Missense_Mutation	SNP	10 : 5147842 - 5147842 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	235	46
DGAT2L6	347516	broad.mit.edu	37	X	69420280	69420280	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69420280C>T	ENST00000333026.3	+	4	543	c.443C>T	c.(442-444)cCa>cTa	p.P148L		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	148					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						TTTTGGATCCCAATTGTGCGA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	90	98			NA	NA	X		NA											NA				69420280		2203	4300	6503	SO:0001583	missense			AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210	347516	347516			23250	protein-coding gene	gene with protein product		300926			NA	15671038	Standard	NM_198512	NM_198512	NA	Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.443C>T	X.37:g.69420280C>T	ENSP00000328036:p.Pro148Leu	NA	Q6IEE2	37	CCDS14397.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902020	0.72754	.	.	ENSG00000184210	ENST00000333026	D	0.96745	-4.11	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000003	D	0.98444	0.9482	H	0.95079	3.62	0.80722	D	1	D	0.64830	0.994	P	0.61477	0.889	D	0.99425	1.0934	10	0.72032	D	0.01	-4.8718	14.8682	0.70434	0.0:1.0:0.0:0.0	.	148	Q6ZPD8	DG2L6_HUMAN	L	148	ENSP00000328036:P148L	ENSP00000328036:P148L	P	+	2	0	DGAT2L6	69337005	1.000000	0.71417	0.985000	0.45067	0.375000	0.29983	6.854000	0.75440	2.390000	0.81377	0.600000	0.82982	CCA	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057067.1		+	ENST00000333026.3	Missense_Mutation	SNP	X : 69420280 - 69420280 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	194	46
SAMM50	25813	broad.mit.edu	37	22	44368749	44368749	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44368749A>C	ENST00000350028.4	+	6	586		c.e6-1		SAMM50_ENST00000396202.3_Intron|SAMM50_ENST00000493161.1_Splice_Site	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	NA					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TTCCCCTCCTAGGTACTTGGC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	118	114			NA	NA	22		NA											NA				44368749		2203	4300	6503	SO:0001630	splice_region_variant			AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347	25813	25813			24276	protein-coding gene	gene with protein product		612058	sorting and assembly machinery component 50 homolog (S. cerevisiae)		NA	15644312	Standard	NM_015380	NM_015380	NA	Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.430-1A>C	22.37:g.44368749A>C		NA	Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	37	CCDS14055.1	.	.	.	.	.	.	.	.	.	.	A	19.02	3.745547	0.69418	.	.	ENSG00000100347	ENST00000350028	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2869	0.66251	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SAMM50	42700082	1.000000	0.71417	0.844000	0.33320	0.856000	0.48823	8.988000	0.93501	1.979000	0.57680	0.533000	0.62120	.	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318898.2	Intron	+	ENST00000350028.4	Splice_Site	SNP	22 : 44368749 - 44368749 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	943	129
ECEL1	9427	broad.mit.edu	37	2	233346332	233346332	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233346332A>G	ENST00000304546.1	-	14	2083	c.1873T>C	c.(1873-1875)Tat>Cat	p.Y625H	ECEL1_ENST00000409941.1_Missense_Mutation_p.Y623H	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	625					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GAGCGGTCATACTGGCCCCCT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	52	52			NA	NA	2		NA											NA				233346332		2203	4300	6503	SO:0001583	missense			Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551	9427	9427			3147	protein-coding gene	gene with protein product	damage induced neuronal endopeptidase	605896			NA	9931490, 11352565	Standard	NM_004826	NM_004826	NA	Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1873T>C	2.37:g.233346332A>G	ENSP00000302051:p.Tyr625His	NA	Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	37	CCDS2493.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.992763	0.74703	.	.	ENSG00000171551	ENST00000411860;ENST00000304546;ENST00000409941	D;D;D	0.84070	-1.8;-1.8;-1.8	5.48	4.29	0.51040	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.061993	0.64402	D	0.000002	D	0.92355	0.7574	M	0.92317	3.295	0.53688	D	0.999975	D;D	0.76494	0.999;0.999	D;D	0.75020	0.931;0.985	D	0.93309	0.6683	10	0.87932	D	0	0.4595	12.7306	0.57195	0.8626:0.1374:0.0:0.0	.	623;625	O95672-2;O95672	.;ECEL1_HUMAN	H	40;625;623	ENSP00000412683:Y40H;ENSP00000302051:Y625H;ENSP00000386333:Y623H	ENSP00000302051:Y625H	Y	-	1	0	ECEL1	233054576	1.000000	0.71417	0.904000	0.35570	0.965000	0.64279	7.440000	0.80464	0.988000	0.38734	0.456000	0.33151	TAT	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257039.2		-	ENST00000304546.1	Missense_Mutation	SNP	2 : 233346332 - 233346332 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	51
NID1	4811	broad.mit.edu	37	1	236141260	236141260	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236141260G>A	ENST00000264187.6	-	20	3733	c.3651C>T	c.(3649-3651)ggC>ggT	p.G1217G	NID1_ENST00000366595.3_Silent_p.G1084G	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	1217	EGF-like 6.				cell-matrix adhesion	basement membrane	calcium ion binding	p.G1217G(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GGGTGCAGCCGCCATTGTTCA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)						G		0,4406		0,0,2203	76	75	75		3651	-11.4	0.2	1		75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NID1	NM_002508.2		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		1217/1248	236141260	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962	4811	4811			7821	protein-coding gene	gene with protein product		131390	nidogen (enactin)	NID	NA	2471408, 7557988	Standard	NM_002508	NM_002508	NA	Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.3651C>T	1.37:g.236141260G>A		NA	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	37	CCDS1608.1																																																																																			NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096647.2		-	ENST00000264187.6	Silent	SNP	1 : 236141260 - 236141260 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	424	41
ABR	29	broad.mit.edu	37	17	994935	994935	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:994935C>A	ENST00000544583.2	-	4	962	c.363G>T	c.(361-363)caG>caT	p.Q121H	ABR_ENST00000291107.2_Missense_Mutation_p.Q130H|ABR_ENST00000302538.5_Missense_Mutation_p.Q167H|ABR_ENST00000574437.1_Missense_Mutation_p.Q121H	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	167	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CCATGGTGACCTGGCTGTCCC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(197;2016 2115 4129 29033 46447)							NA				0													134	116	122			NA	NA	17		NA											NA				994935		2203	4300	6503	SO:0001583	missense			L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842	29	29		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	81	protein-coding gene	gene with protein product		600365	active BCR-related gene		NA	2587217, 7479768	Standard		NM_001092	NA	Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000544583.2:c.363G>T	17.37:g.994935C>A	ENSP00000442048:p.Gln121His	NA	D3DTH4|Q13693|Q13694	37	CCDS54060.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627495	0.46944	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000382259	T;T;T	0.63096	-0.02;-0.02;-0.02	6.04	0.793	0.18632	Dbl homology (DH) domain (5);	0.341955	0.34603	N	0.003837	T	0.42404	0.1201	N	0.11313	0.125	0.80722	D	1	P;B;P;B	0.50369	0.934;0.009;0.545;0.003	P;B;B;B	0.47102	0.537;0.021;0.221;0.005	T	0.30880	-0.9963	10	0.51188	T	0.08	.	6.4166	0.21719	0.0:0.5355:0.1223:0.3422	.	121;51;130;167	B3KW89;Q6ZT60;Q12979-2;Q12979	.;.;.;ABR_HUMAN	H	167;121;130;51	ENSP00000303909:Q167H;ENSP00000442048:Q121H;ENSP00000291107:Q130H	ENSP00000291107:Q130H	Q	-	3	2	ABR	941685	0.952000	0.32445	1.000000	0.80357	0.984000	0.73092	0.090000	0.15025	0.463000	0.27118	-0.251000	0.11542	CAG	ABR-004	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437250.1		-	ENST00000544583.2	Missense_Mutation	SNP	17 : 994935 - 994935 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	565	98
OR6C70	390327	broad.mit.edu	37	12	55863420	55863420	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55863420G>T	ENST00000327335.4	-	1	502	c.503C>A	c.(502-504)gCt>gAt	p.A168D	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						GATATTTGAAGCACAGAAATC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	87	86			NA	NA	12		NA											NA				55863420		2203	4299	6502	SO:0001583	missense				CCDS31825.1	12q13.2	2013-09-23			ENSG00000184954	ENSG00000184954	390327	390327		GPCR / Class A : Olfactory receptors	31299	protein-coding gene	gene with protein product					NA		Standard		NM_001005499	NA	Approved		uc010spn.2	A6NIJ9	OTTHUMG00000171127	ENST00000327335.4:c.503C>A	12.37:g.55863420G>T	ENSP00000329153:p.Ala168Asp	NA		37	CCDS31825.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.967877	0.00457	.	.	ENSG00000184954	ENST00000327335	T	0.37235	1.21	4.06	-0.495	0.12030	GPCR, rhodopsin-like superfamily (1);	0.603436	0.14712	N	0.302876	T	0.20129	0.0484	N	0.17278	0.47	0.09310	N	1	B	0.26512	0.151	B	0.36766	0.232	T	0.35968	-0.9767	10	0.02654	T	1	.	8.8381	0.35123	0.0:0.2561:0.4479:0.296	.	168	A6NIJ9	O6C70_HUMAN	D	168	ENSP00000329153:A168D	ENSP00000329153:A168D	A	-	2	0	OR6C70	54149687	0.000000	0.05858	0.095000	0.20976	0.265000	0.26407	0.110000	0.15437	-0.200000	0.10300	0.655000	0.94253	GCT	OR6C70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411820.1		-	ENST00000327335.4	Missense_Mutation	SNP	12 : 55863420 - 55863420 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	479	77
DHRS13	147015	broad.mit.edu	37	17	27228610	27228610	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27228610A>C	ENST00000394901.3	-	2	513	c.121T>G	c.(121-123)Ttc>Gtc	p.F41V	DHRS13_ENST00000426464.2_Intron|DHRS13_ENST00000378895.4_Missense_Mutation_p.F91V			Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	91						extracellular region	binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			AAGGCCATGAAGATGACCTCA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	86	89			NA	NA	17		NA											NA				27228610		2203	4300	6503	SO:0001583	missense			BC015582	CCDS11246.2	17q11.2	2011-09-14			ENSG00000167536	ENSG00000167536	147015	147015	1.1.-.-	Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2	28326	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 7C, member 5				NA	12975309, 19027726	Standard	NM_144683	NM_144683	NA	Approved	MGC23280, SDR7C5	uc002hde.4	Q6UX07	OTTHUMG00000132678	ENST00000394901.3:c.121T>G	17.37:g.27228610A>C	ENSP00000378361:p.Phe41Val	NA	Q96BH7	37		.	.	.	.	.	.	.	.	.	.	A	16.66	3.185176	0.57909	.	.	ENSG00000167536	ENST00000378895;ENST00000394901	D;D	0.86164	-2.08;-2.08	5.6	5.6	0.85130	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.82536	0.5058	N	0.03917	-0.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78785	-0.2068	10	0.05351	T	0.99	.	14.9612	0.71158	1.0:0.0:0.0:0.0	.	91	Q6UX07	DHR13_HUMAN	V	91;41	ENSP00000368173:F91V;ENSP00000378361:F41V	ENSP00000368173:F91V	F	-	1	0	DHRS13	24252736	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.676000	0.91199	2.134000	0.65973	0.454000	0.30748	TTC	DHRS13-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000255953.1		-	ENST00000394901.3	Missense_Mutation	SNP	17 : 27228610 - 27228610 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	382	72
VWF	7450	broad.mit.edu	37	12	6128448	6128448	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6128448C>T	ENST00000261405.5	-	28	4390	c.4136G>A	c.(4135-4137)cGc>cAc	p.R1379H		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1379	VWFA 1; binding site for platelet glycoprotein Ib.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CAGGGTGATGCGGGAGGCTTC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	49	48			NA	NA	12		NA											NA				6128448		2203	4300	6503	SO:0001583	missense				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799	7450	7450		Endogenous ligands	12726	protein-coding gene	gene with protein product		613160		F8VWF	NA	2251280	Standard	NM_000552	NM_000552	NA	Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.4136G>A	12.37:g.6128448C>T	ENSP00000261405:p.Arg1379His	NA	Q99806	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	14.57	2.575938	0.45902	.	.	ENSG00000110799	ENST00000261405	D	0.83419	-1.72	4.98	3.13	0.36017	von Willebrand factor, type A (3);	0.328267	0.22298	N	0.061915	D	0.82852	0.5127	M	0.86420	2.815	0.28777	N	0.90008	B	0.32350	0.366	B	0.34536	0.185	T	0.77752	-0.2470	10	0.52906	T	0.07	.	6.7007	0.23223	0.0:0.6382:0.0:0.3618	.	1379	P04275	VWF_HUMAN	H	1379	ENSP00000261405:R1379H	ENSP00000261405:R1379H	R	-	2	0	VWF	5998709	0.991000	0.36638	0.371000	0.25978	0.644000	0.38419	2.269000	0.43346	0.683000	0.31428	-0.300000	0.09419	CGC	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399020.1		-	ENST00000261405.5	Missense_Mutation	SNP	12 : 6128448 - 6128448 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	554	70
ACAD11	84129	broad.mit.edu	37	3	132294689	132294689	+	Missense_Mutation	SNP	G	G	A	rs147225179		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132294689G>A	ENST00000264990.6	-	17	2899	c.1928C>T	c.(1927-1929)gCg>gTg	p.A643V	ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Missense_Mutation_p.A168V	NM_032169.4	NP_115545			acyl-CoA dehydrogenase family, member 11	NA										breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						AGCGCGTTCCGCCAAACCTAC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	100	102			NA	NA	3		NA											NA				132294689		2203	4300	6503	SO:0001583	missense			BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303	84129	84129			30211	protein-coding gene	gene with protein product		614288	acyl-Coenzyme A dehydrogenase family, member 11		NA		Standard	NM_032169	NM_032169	NA	Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.1928C>T	3.37:g.132294689G>A	ENSP00000264990:p.Ala643Val	NA		37	CCDS3074.1	.	.	.	.	.	.	.	.	.	.	G	35	5.493939	0.96339	.	.	ENSG00000240303	ENST00000264990;ENST00000545291	D;D	0.97186	-4.28;-4.28	5.59	5.59	0.84812	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	.	.	.	.	D	0.98748	0.9579	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99701	1.1004	9	0.87932	D	0	.	18.353	0.90344	0.0:0.0:1.0:0.0	.	643	Q709F0	ACD11_HUMAN	V	643;168	ENSP00000264990:A643V;ENSP00000446263:A168V	ENSP00000264990:A643V	A	-	2	0	ACAD11	133777379	1.000000	0.71417	0.831000	0.32960	0.967000	0.64934	9.033000	0.93741	2.615000	0.88500	0.591000	0.81541	GCG	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357279.2		-	ENST00000264990.6	Missense_Mutation	SNP	3 : 132294689 - 132294689 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	307	75
OR8H3	390152	broad.mit.edu	37	11	55890321	55890321	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55890321T>C	ENST00000313472.3	+	1	473	c.473T>C	c.(472-474)gTc>gCc	p.V158A		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					GACTCCTTTGTCAATGTGGTT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													225	199	208			NA	NA	11		NA											NA				55890321		2201	4296	6497	SO:0001583	missense			AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761	390152	390152		GPCR / Class A : Olfactory receptors	15309	protein-coding gene	gene with protein product					NA		Standard	NM_001005201	NM_001005201	NA	Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.473T>C	11.37:g.55890321T>C	ENSP00000323928:p.Val158Ala	NA	Q6IFB7	37	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	T	2.812	-0.246693	0.05867	.	.	ENSG00000181761	ENST00000313472	T	0.37915	1.17	3.62	1.21	0.21127	GPCR, rhodopsin-like superfamily (1);	1.117260	0.06780	N	0.785094	T	0.27098	0.0664	L	0.35542	1.07	0.09310	N	1	B	0.20052	0.041	B	0.26310	0.068	T	0.33189	-0.9878	10	0.22109	T	0.4	.	6.0785	0.19928	0.0:0.3827:0.0:0.6173	.	158	Q8N146	OR8H3_HUMAN	A	158	ENSP00000323928:V158A	ENSP00000323928:V158A	V	+	2	0	OR8H3	55646897	0.000000	0.05858	0.001000	0.08648	0.209000	0.24338	0.117000	0.15583	0.401000	0.25424	0.145000	0.16022	GTC	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391541.1		+	ENST00000313472.3	Missense_Mutation	SNP	11 : 55890321 - 55890321 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	855	87
PTCH2	8643	broad.mit.edu	37	1	45307689	45307689	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45307689G>A	ENST00000372192.3	-	2	225	c.95C>T	c.(94-96)gCt>gTt	p.A32V	PTCH2_ENST00000447098.2_Missense_Mutation_p.A32V	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	32					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CCAGAGTGGAGCCTTCAGGCT	0.537		NA							Basal Cell Nevus syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	86	85			NA	NA	1		NA											NA				45307689		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425	8643	8643			9586	protein-coding gene	gene with protein product		603673	patched (Drosophila) homolog 2, patched homolog 2 (Drosophila)		NA	9811851, 9931336	Standard	NM_003738	NM_003738	NA	Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.95C>T	1.37:g.45307689G>A	ENSP00000361266:p.Ala32Val	NA	O95341|O95856|Q53Z57|Q5QP87|Q6UX14	37	CCDS516.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002097	0.93227	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.83755	-1.76;-1.76	4.49	4.49	0.54785	.	0.000000	0.47455	D	0.000227	T	0.81437	0.4822	L	0.51422	1.61	0.52501	D	0.999955	P	0.38788	0.647	B	0.41946	0.371	T	0.81829	-0.0753	10	0.40728	T	0.16	-6.674	16.0996	0.81163	0.0:0.0:1.0:0.0	.	32	Q9Y6C5	PTC2_HUMAN	V	32	ENSP00000389703:A32V;ENSP00000361266:A32V	ENSP00000361266:A32V	A	-	2	0	PTCH2	45080276	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.771000	0.91751	2.325000	0.78763	0.561000	0.74099	GCT	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000023428.4		-	ENST00000372192.3	Missense_Mutation	SNP	1 : 45307689 - 45307689 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	463	88
PIGS	94005	broad.mit.edu	37	17	26890850	26890850	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26890850G>A	ENST00000308360.7	-	4	737	c.362C>T	c.(361-363)tCg>tTg	p.S121L	PIGS_ENST00000395346.2_Missense_Mutation_p.S113L|PIGS_ENST00000543734.1_Missense_Mutation_p.S60L	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	121					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CACACTGCCCGATGACAGGGC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													200	186	190			NA	NA	17		NA											NA				26890850		2203	4300	6503	SO:0001583	missense				CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111	94005	94005		Phosphatidylinositol glycan anchor biosynthesis	14937	protein-coding gene	gene with protein product	GPI transamidase subunit	610271	phosphatidylinositol glycan, class S		NA		Standard	NM_033198	NM_033198	NA	Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.362C>T	17.37:g.26890850G>A	ENSP00000309430:p.Ser121Leu	NA	Q6UVX6	37	CCDS11235.1	.	.	.	.	.	.	.	.	.	.	G	2.706	-0.269863	0.05716	.	.	ENSG00000087111	ENST00000395346;ENST00000308360;ENST00000543734	T;T;T	0.41758	0.99;0.99;0.99	5.21	2.69	0.31865	.	0.519639	0.20737	N	0.086620	T	0.10895	0.0266	N	0.00583	-1.355	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20240	-1.0281	10	0.24483	T	0.36	-6.2214	3.9546	0.09383	0.6491:0.0:0.1999:0.151	.	121;113	Q96S52;Q96S52-2	PIGS_HUMAN;.	L	113;121;60	ENSP00000378755:S113L;ENSP00000309430:S121L;ENSP00000438447:S60L	ENSP00000309430:S121L	S	-	2	0	PIGS	23914977	0.000000	0.05858	0.026000	0.17262	0.181000	0.23173	0.591000	0.23969	0.732000	0.32470	-0.345000	0.07892	TCG	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255833.3		-	ENST00000308360.7	Missense_Mutation	SNP	17 : 26890850 - 26890850 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1007	187
ESRP2	80004	broad.mit.edu	37	16	68264366	68264366	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68264366C>T	ENST00000473183.2	-	14	2528	c.1990G>A	c.(1990-1992)Gcc>Acc	p.A664T	ESRP2_ENST00000565858.1_Missense_Mutation_p.A674T			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	674					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CGGACCAAGGCTCCTGACTGG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	92	92			NA	NA	16		NA											NA				68264366		2198	4300	6498	SO:0001583	missense			AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067	80004	80004		RNA binding motif (RRM) containing	26152	protein-coding gene	gene with protein product		612960	RNA binding motif protein 35B	RBM35B	NA	12477932	Standard	NM_024939	NM_024939	NA	Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000473183.2:c.1990G>A	16.37:g.68264366C>T	ENSP00000418748:p.Ala664Thr	NA	Q8N6H8|Q8WZ15|Q9H6I4	37	CCDS10863.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694056	0.68386	.	.	ENSG00000103067	ENST00000473183	T	0.11277	2.79	5.93	4.98	0.66077	.	0.101915	0.64402	D	0.000002	T	0.12390	0.0301	L	0.39397	1.21	0.80722	D	1	B;B	0.31599	0.33;0.184	B;B	0.37833	0.132;0.259	T	0.11717	-1.0576	10	0.15499	T	0.54	-11.6059	15.2254	0.73348	0.0:0.9327:0.0:0.0673	.	674;664	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	T	664	ENSP00000418748:A664T	ENSP00000418748:A664T	A	-	1	0	ESRP2	66821867	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.900000	0.63252	1.517000	0.48917	0.561000	0.74099	GCC	ESRP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268893.2		-	ENST00000473183.2	Missense_Mutation	SNP	16 : 68264366 - 68264366 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	589	108
ATOH7	220202	broad.mit.edu	37	10	69991175	69991175	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:69991175C>A	ENST00000373673.3	-	1	696	c.260G>T	c.(259-261)aGc>aTc	p.S87I		NM_145178.3	NP_660161.1	Q8N100	ATOH7_HUMAN	atonal homolog 7 (Drosophila)	87	Helix-loop-helix motif.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				NA						CATGATGTAGCTCAGGGCCAT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	55	55			NA	NA	10		NA											NA				69991175		2203	4300	6503	SO:0001583	missense			AF418922	CCDS7276.1	10q22.2	2013-05-21			ENSG00000179774	ENSG00000179774	220202	220202		Basic helix-loop-helix proteins	13907	protein-coding gene	gene with protein product		609875			NA	11889557	Standard		NM_145178	NA	Approved	Math5, bHLHa13	uc001jnq.3	Q8N100	OTTHUMG00000018346	ENST00000373673.3:c.260G>T	10.37:g.69991175C>A	ENSP00000362777:p.Ser87Ile	NA		37	CCDS7276.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824458	0.90955	.	.	ENSG00000179774	ENST00000373673	D	0.97976	-4.64	4.86	4.86	0.63082	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.96476	0.8850	L	0.38733	1.17	0.80722	D	1	P	0.39535	0.677	P	0.46479	0.518	D	0.95889	0.8905	9	.	.	.	-5.8489	17.9986	0.89192	0.0:1.0:0.0:0.0	.	87	Q8N100	ATOH7_HUMAN	I	87	ENSP00000362777:S87I	.	S	-	2	0	ATOH7	69661181	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	4.902000	0.63266	2.240000	0.73641	0.561000	0.74099	AGC	ATOH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048312.1		-	ENST00000373673.3	Missense_Mutation	SNP	10 : 69991175 - 69991175 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	166	19
SCN2A	6326	broad.mit.edu	37	2	166243340	166243340	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166243340G>A	ENST00000375437.2	+	26	4926	c.4636G>A	c.(4636-4638)Gtc>Atc	p.V1546I	SCN2A_ENST00000357398.3_Missense_Mutation_p.V1546I|SCN2A_ENST00000283256.6_Missense_Mutation_p.V1546I|SCN2A_ENST00000375427.2_Missense_Mutation_p.V1546I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1546					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CCTTAACATGGTCACCATGAT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	156	163			NA	NA	2		NA											NA				166243340		2203	4300	6503	SO:0001583	missense			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531	6326	6326		Sodium channels, Voltage-gated ion channels / Sodium channels	10588	protein-coding gene	gene with protein product		182390	sodium channel, voltage-gated, type II, alpha 2 polypeptide, sodium channel, voltage-gated, type II, alpha 1 polypeptide	SCN2A1, SCN2A2	NA	1317301, 16382098	Standard	NM_021007	XM_005246753	NA	Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4636G>A	2.37:g.166243340G>A	ENSP00000364586:p.Val1546Ile	NA	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118074	0.56505	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000001	D	0.93913	0.8052	L	0.28776	0.89	0.80722	D	1	P;B	0.39216	0.664;0.009	B;B	0.35688	0.208;0.02	D	0.93458	0.6808	10	0.33940	T	0.23	.	18.6724	0.91516	0.0:0.0:1.0:0.0	.	1546;1546	Q99250-2;Q99250	.;SCN2A_HUMAN	I	1546	ENSP00000364586:V1546I;ENSP00000349973:V1546I;ENSP00000283256:V1546I;ENSP00000364576:V1546I	ENSP00000283256:V1546I	V	+	1	0	SCN2A	165951586	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.013000	0.88655	2.418000	0.82041	0.650000	0.86243	GTC	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000102659.2		+	ENST00000375437.2	Missense_Mutation	SNP	2 : 166243340 - 166243340 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	332	93
ANK2	287	broad.mit.edu	37	4	114161720	114161720	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114161720C>T	ENST00000357077.4	+	8	826	c.773C>T	c.(772-774)gCt>gTt	p.A258V	ANK2_ENST00000506722.1_Missense_Mutation_p.A237V|ANK2_ENST00000394537.3_Missense_Mutation_p.A258V|ANK2_ENST00000264366.6_Missense_Mutation_p.A258V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	258					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CGGGGAGCTGCTGTGGACTTC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	112	114			NA	NA	4		NA											NA				114161720		2203	4300	6503	SO:0001583	missense			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362	287	287		Ankyrin repeat domain containing	493	protein-coding gene	gene with protein product		106410	long (electrocardiographic) QT syndrome 4	LQT4	NA	7485162, 12571597	Standard	NM_001148	NM_001148	NA	Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.773C>T	4.37:g.114161720C>T	ENSP00000349588:p.Ala258Val	NA	Q01485|Q08AC7|Q08AC8|Q7Z3L5	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910861	0.52439	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.53423	1.95;0.62;2.36;0.62;0.62;2.36;2.36	5.5	5.5	0.81552	Ankyrin repeat-containing domain (3);	0.000000	0.50627	D	0.000118	T	0.57198	0.2037	L	0.38733	1.17	0.80722	D	1	P;B;P;B;D	0.71674	0.678;0.122;0.627;0.058;0.998	B;B;B;B;D	0.80764	0.361;0.233;0.247;0.169;0.994	T	0.51348	-0.8717	10	0.34782	T	0.22	.	13.6813	0.62487	0.0:0.9249:0.0:0.0751	.	258;258;258;237;237	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	V	237;237;237;273;258;258;258;237	ENSP00000423799:A237V;ENSP00000421011:A237V;ENSP00000421067:A237V;ENSP00000424722:A273V;ENSP00000378044:A258V;ENSP00000349588:A258V;ENSP00000264366:A258V	ENSP00000264366:A258V	A	+	2	0	ANK2	114381169	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.044000	0.71012	2.740000	0.93945	0.650000	0.86243	GCT	ANK2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256422.2		+	ENST00000357077.4	Missense_Mutation	SNP	4 : 114161720 - 114161720 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	396	33
LARS	51520	broad.mit.edu	37	5	145509704	145509704	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145509704G>A	ENST00000394434.2	-	25	2671	c.2505C>T	c.(2503-2505)taC>taT	p.Y835Y	LARS_ENST00000510191.1_Silent_p.Y781Y|LARS_ENST00000274562.9_Silent_p.Y808Y|LARS_ENST00000545646.1_Silent_p.Y789Y	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	835					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CCAATTCACGGTACTTATCTT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	89	91			NA	NA	5		NA											NA				145509704		2203	4300	6503	SO:0001819	synonymous_variant			AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	51520	51520	6.1.1.4	Aminoacyl tRNA synthetases / Class I	6512	protein-coding gene	gene with protein product	leucine tRNA ligase 1, cytoplasmic	151350			NA	6933703	Standard	NM_020117	NM_020117	NA	Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.2505C>T	5.37:g.145509704G>A		NA	A7E266|Q9NSE1	37	CCDS34265.1																																																																																			LARS-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373367.1		-	ENST00000394434.2	Silent	SNP	5 : 145509704 - 145509704 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	493	68
PHLPP2	23035	broad.mit.edu	37	16	71686695	71686695	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71686695C>T	ENST00000393524.2	-	16	3347	c.2614G>A	c.(2614-2616)Gag>Aag	p.E872K	PHLPP2_ENST00000568954.1_Missense_Mutation_p.E939K|PHLPP2_ENST00000540628.1_Missense_Mutation_p.E149K|PHLPP2_ENST00000356272.3_Missense_Mutation_p.E939K|PHLPP2_ENST00000360429.3_Missense_Mutation_p.E939K|PHLPP2_ENST00000567016.1_Missense_Mutation_p.E974K			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	939	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GAACACACCTCTGTGATGATG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	88	98			NA	NA	16		NA											NA				71686695		2198	4300	6498	SO:0001583	missense			BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199	23035	23035		Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent, Pleckstrin homology (PH) domain containing	29149	protein-coding gene	gene with protein product		611066	PH domain and leucine rich repeat protein phosphatase-like	PHLPPL	NA	17386267	Standard	NM_015020	NM_001289003	NA	Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000393524.2:c.2614G>A	16.37:g.71686695C>T	ENSP00000377159:p.Glu872Lys	NA	A1L374|Q9NV17|Q9Y2E3	37		.	.	.	.	.	.	.	.	.	.	C	35	5.513646	0.96402	.	.	ENSG00000040199	ENST00000540628;ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	5.41	5.41	0.78517	Protein phosphatase 2C-like (4);	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.995;0.996	T	0.02417	-1.1162	10	0.44086	T	0.13	-18.1224	18.1921	0.89810	0.0:1.0:0.0:0.0	.	872;939	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	K	149;746;939;939;872	ENSP00000445781:E149K;ENSP00000353610:E939K;ENSP00000348611:E939K;ENSP00000377159:E872K	ENSP00000299971:E746K	E	-	1	0	PHLPP2	70244196	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.818000	0.86416	2.523000	0.85059	0.655000	0.94253	GAG	PHLPP2-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000434140.1		-	ENST00000393524.2	Missense_Mutation	SNP	16 : 71686695 - 71686695 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	48
KLHL26	55295	broad.mit.edu	37	19	18778902	18778902	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18778902G>A	ENST00000300976.4	+	3	785	c.695G>A	c.(694-696)cGc>cAc	p.R232H	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	232	BACK.									breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCGGCCGTCCGCTGGCTGCAG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	24	24			NA	NA	19		NA											NA				18778902		2199	4296	6495	SO:0001583	missense				CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487	55295	55295		Kelch-like, BTB/POZ domain containing	25623	protein-coding gene	gene with protein product			kelch-like 26 (Drosophila)		NA		Standard	NM_018316	XM_006722785	NA	Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.695G>A	19.37:g.18778902G>A	ENSP00000300976:p.Arg232His	NA	Q8TAP0|Q9NUX3	37	CCDS12384.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712884	0.89112	.	.	ENSG00000167487	ENST00000300976	T	0.69926	-0.44	5.04	5.04	0.67666	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.77391	0.4123	M	0.86740	2.835	0.80722	D	1	P	0.52170	0.951	P	0.48552	0.581	T	0.81972	-0.0688	9	.	.	.	.	17.3648	0.87360	0.0:0.0:1.0:0.0	.	232	Q53HC5	KLH26_HUMAN	H	232	ENSP00000300976:R232H	.	R	+	2	0	KLHL26	18639902	1.000000	0.71417	0.998000	0.56505	0.902000	0.53008	7.734000	0.84928	2.341000	0.79615	0.591000	0.81541	CGC	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465145.1		+	ENST00000300976.4	Missense_Mutation	SNP	19 : 18778902 - 18778902 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	381	19
TNR	7143	broad.mit.edu	37	1	175332862	175332862	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175332862A>C	ENST00000367674.2	-	13	3397	c.2689T>G	c.(2689-2691)Tca>Gca	p.S897A	TNR_ENST00000263525.2_Missense_Mutation_p.S897A			Q92752	TENR_HUMAN	tenascin R	NA	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGTCGATATGATACTCGGTAG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	154	160			NA	NA	1		NA											NA				175332862		2203	4300	6503	SO:0001583	missense			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147	7143	7143		Fibrinogen C domain containing, Fibronectin type III domain containing	11953	protein-coding gene	gene with protein product	restrictin, janusin	601995			NA	8626505, 8940128	Standard	NM_003285	NM_003285	NA	Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2689T>G	1.37:g.175332862A>C	ENSP00000356646:p.Ser897Ala	NA	C9J563|Q15568|Q5R3G0	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	A	14.59	2.581674	0.46006	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.56941	0.43;0.43	5.5	5.5	0.81552	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.48187	0.1486	M	0.65677	2.01	0.52099	D	0.999948	B	0.06786	0.001	B	0.13407	0.009	T	0.41698	-0.9494	10	0.16420	T	0.52	.	10.905	0.47076	0.8432:0.1568:0.0:0.0	.	897	Q92752	TENR_HUMAN	A	897;897;807	ENSP00000356646:S897A;ENSP00000263525:S897A	ENSP00000263525:S897A	S	-	1	0	TNR	173599485	1.000000	0.71417	0.916000	0.36221	0.957000	0.61999	6.220000	0.72237	2.209000	0.71365	0.533000	0.62120	TCA	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084414.4		-	ENST00000367674.2	Missense_Mutation	SNP	1 : 175332862 - 175332862 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	447	74
SEC24D	9871	broad.mit.edu	37	4	119736284	119736284	+	Missense_Mutation	SNP	C	C	T	rs73842254	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119736284C>T	ENST00000280551.6	-	6	938	c.700G>A	c.(700-702)Gca>Aca	p.A234T	SEC24D_ENST00000379735.5_Missense_Mutation_p.A235T|SEC24D_ENST00000419654.2_5'UTR			O94855	SC24D_HUMAN	SEC24 family member D	234	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						GACAGTTGTGCGCCTGCCATC	0.512		NA											C	11	0.01	0.02	NA	2184	NA	1	,	,	NA	2e-04	NA	NA	NA	0.005	1	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				0								C	THR/ALA	48,4358	50.2+/-85.5	0,48,2155	58	60	59		700	-0.7	0	4	dbSNP_130	59	0,8600		0,0,4300	yes	missense	SEC24D	NM_014822.2	58	0,48,6455	TT,TC,CC	NA	0.0,1.0894,0.3691	benign	234/1033	119736284	48,12958	2203	4300	6503	SO:0001583	missense			AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961	9871	9871			10706	protein-coding gene	gene with protein product		607186	SEC24 (S. cerevisiae) related gene family, member D, SEC24 family, member D (S. cerevisiae)		NA	9872452, 10075675	Standard		NM_014822	NA	Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.700G>A	4.37:g.119736284C>T	ENSP00000280551:p.Ala234Thr	NA	Q8IYI7	37	CCDS3710.1	11	0.005036630036630037	11	0.022357723577235773	0	0.0	0	0.0	0	0.0	C	3.583	-0.085222	0.07097	0.010894	0.0	ENSG00000150961	ENST00000280551;ENST00000379735	T;T	0.77229	2.01;-1.08	5.55	-0.69	0.11309	.	0.583975	0.19166	N	0.121062	T	0.41511	0.1162	L	0.40543	1.245	0.23314	N	0.99793	B;B	0.31459	0.269;0.324	B;B	0.23852	0.049;0.049	T	0.33085	-0.9882	10	0.17369	T	0.5	-0.9193	3.6618	0.08241	0.1253:0.3664:0.3657:0.1426	.	235;234	O94855-2;O94855	.;SC24D_HUMAN	T	234;235	ENSP00000280551:A234T;ENSP00000369059:A235T	ENSP00000280551:A234T	A	-	1	0	SEC24D	119955732	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.474000	0.06607	-0.546000	0.06216	-1.289000	0.01358	GCA	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256514.4		-	ENST00000280551.6	Missense_Mutation	SNP	4 : 119736284 - 119736284 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	336	31
OSBPL9	114883	broad.mit.edu	37	1	52231644	52231644	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52231644G>A	ENST00000371714.1	+	14	1390	c.890G>A	c.(889-891)cGc>cAc	p.R297H	OSBPL9_ENST00000361556.5_Missense_Mutation_p.R200H|OSBPL9_ENST00000371710.3_Missense_Mutation_p.R328H|OSBPL9_ENST00000531828.1_Missense_Mutation_p.R145H|OSBPL9_ENST00000428468.1_Missense_Mutation_p.R310H|OSBPL9_ENST00000337809.4_Missense_Mutation_p.R315H|OSBPL9_ENST00000447887.1_Missense_Mutation_p.R320H|OSBPL9_ENST00000453295.1_Missense_Mutation_p.R293H|OSBPL9_ENST00000530544.1_Missense_Mutation_p.R229H|OSBPL9_ENST00000435686.2_Missense_Mutation_p.R145H|OSBPL9_ENST00000462759.1_Missense_Mutation_p.R132H|OSBPL9_ENST00000486942.1_Missense_Mutation_p.R132H			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	310					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						TCCCCAAAGCGCTTAATAGAG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	66	64	65		929,395,395,878,599,890,959	2	1	1		65	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	OSBPL9	NM_024586.5,NM_148904.3,NM_148905.3,NM_148906.2,NM_148907.2,NM_148908.3,NM_148909.3	29,29,29,29,29,29,29	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign,benign	310/737,132/559,132/559,293/720,200/627,297/724,320/747	52231644	1,13005	2203	4300	6503	SO:0001583	missense			AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859	114883	114883		Oxysterol binding proteins, Pleckstrin homology (PH) domain containing	16386	protein-coding gene	gene with protein product		606737			NA		Standard		NM_148904	NA	Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000371714.1:c.890G>A	1.37:g.52231644G>A	ENSP00000360779:p.Arg297His	NA	B1AKJ8|D3DQ31|Q5TFC0|Q6IA67|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	37	CCDS55598.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465138	0.43839	0.0	1.16E-4	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000531828;ENST00000361556;ENST00000462759;ENST00000486942	T;T;T;T;T;T;T;T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51	4.86	1.97	0.26223	.	0.100852	0.64402	N	0.000001	T	0.13457	0.0326	N	0.04880	-0.145	0.37295	D	0.908439	D;B;B;B;B	0.76494	0.999;0.007;0.0;0.01;0.01	P;B;B;B;B	0.62649	0.905;0.003;0.001;0.003;0.003	T	0.17868	-1.0355	10	0.44086	T	0.13	-14.4153	10.3018	0.43656	0.2153:0.0:0.7847:0.0	.	293;200;326;310;315	Q86YQ3;Q96SU4-3;B1AKJ7;Q96SU4;B1AKJ6	.;.;.;OSBL9_HUMAN;.	H	297;328;315;320;145;310;293;229;145;200;132;132	ENSP00000360779:R297H;ENSP00000360775:R328H;ENSP00000337265:R315H;ENSP00000412733:R320H;ENSP00000402646:R145H;ENSP00000407168:R310H;ENSP00000413263:R293H;ENSP00000433675:R229H;ENSP00000433083:R145H;ENSP00000354970:R200H;ENSP00000433279:R132H;ENSP00000431980:R132H	ENSP00000337265:R315H	R	+	2	0	OSBPL9	52004232	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.545000	0.45769	0.338000	0.23692	0.650000	0.86243	CGC	OSBPL9-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022581.4		+	ENST00000371714.1	Missense_Mutation	SNP	1 : 52231644 - 52231644 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	29
HDHD2	84064	broad.mit.edu	37	18	44662797	44662797	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44662797C>T	ENST00000300605.6	-	2	166	c.14G>A	c.(13-15)cGt>cAt	p.R5H	IER3IP1_ENST00000588705.1_3'UTR|HDHD2_ENST00000587841.1_Intron	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain containing 2	5							hydrolase activity			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						TTTTAATGCACGGCATGCTGC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	107	90	96		14	4.9	1	18		96	0,8600		0,0,4300	no	missense	HDHD2	NM_032124.4	29	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	benign	5/260	44662797	1,13005	2203	4300	6503	SO:0001583	missense			AL136681	CCDS32829.1	18q21.1	2008-02-05				ENSG00000167220	84064	84064			25364	protein-coding gene	gene with protein product					NA	11230166	Standard	NM_032124	NM_032124	NA	Approved	DKFZP564D1378	uc002lcs.3	Q9H0R4		ENST00000300605.6:c.14G>A	18.37:g.44662797C>T	ENSP00000300605:p.Arg5His	NA	A8K7T3|Q96NV4	37	CCDS32829.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345040	0.61073	2.27E-4	0.0	ENSG00000167220	ENST00000300605	T	0.32988	1.43	5.76	4.88	0.63580	HAD-like domain (1);	0.652062	0.15970	N	0.235809	T	0.27384	0.0672	L	0.41824	1.3	0.53688	D	0.999979	B	0.29037	0.231	B	0.21151	0.033	T	0.08638	-1.0712	10	0.72032	D	0.01	-0.0751	15.0729	0.72053	0.0:0.931:0.0:0.069	.	5	Q9H0R4	HDHD2_HUMAN	H	5	ENSP00000300605:R5H	ENSP00000300605:R5H	R	-	2	0	HDHD2	42916795	0.999000	0.42202	1.000000	0.80357	0.953000	0.61014	4.102000	0.57776	2.720000	0.93068	0.655000	0.94253	CGT	HDHD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450668.2		-	ENST00000300605.6	Missense_Mutation	SNP	18 : 44662797 - 44662797 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	290	43
DNAJC3	5611	broad.mit.edu	37	13	96443261	96443261	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:96443261A>G	ENST00000376795.6	+	11	1437	c.1339A>G	c.(1339-1341)Aga>Gga	p.R447G	DNAJC3_ENST00000602402.1_Missense_Mutation_p.R498G			Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	498	J.				protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			CGGACCATTTAGATTTAAATT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	96	95			NA	NA	13		NA											NA				96443261		2203	4300	6503	SO:0001583	missense			U28424	CCDS9479.1	13q32	2013-01-10			ENSG00000102580	ENSG00000102580	5611	5611		Heat shock proteins / DNAJ (HSP40), Tetratricopeptide (TTC) repeat domain containing	9439	protein-coding gene	gene with protein product		601184		PRKRI	NA	7511204, 8824806	Standard		NM_006260	NA	Approved	P58, P58IPK, HP58	uc001vmq.3	Q13217	OTTHUMG00000017227	ENST00000376795.6:c.1339A>G	13.37:g.96443261A>G	ENSP00000365991:p.Arg447Gly	NA	Q86WT9|Q8N4N2	37		.	.	.	.	.	.	.	.	.	.	A	12.90	2.077156	0.36662	.	.	ENSG00000102580	ENST00000376795	.	.	.	5.63	-0.607	0.11615	.	0.190440	0.56097	D	0.000030	T	0.28764	0.0713	N	0.08118	0	0.27402	N	0.95481	B;B	0.11235	0.004;0.004	B;B	0.14578	0.011;0.011	T	0.21655	-1.0239	9	0.54805	T	0.06	-20.008	17.5413	0.87849	0.5106:0.4894:0.0:0.0	.	498;498	A8KA82;Q13217	.;DNJC3_HUMAN	G	498	.	ENSP00000365991:R498G	R	+	1	2	DNAJC3	95241262	0.905000	0.30787	0.938000	0.37757	0.856000	0.48823	0.912000	0.28597	-0.154000	0.11118	-1.256000	0.01477	AGA	DNAJC3-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000468030.1		+	ENST00000376795.6	Missense_Mutation	SNP	13 : 96443261 - 96443261 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	587	49
CHIT1	1118	broad.mit.edu	37	1	203192262	203192262	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203192262C>A	ENST00000367229.1	-	6	640		c.e6+1		CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000255427.3_Splice_Site|CHIT1_ENST00000535569.1_Splice_Site	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	NA					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CTGAGACTCACTGGGCGATTT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	132	134			NA	NA	1		NA											NA				203192262		2203	4300	6503	SO:0001630	splice_region_variant			U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063	1118	1118			1936	protein-coding gene	gene with protein product		600031			NA	9748235, 9492324	Standard	NM_003465	NM_003465	NA	Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.605+1G>T	1.37:g.203192262C>A		NA	Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	37	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156689	0.38119	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	.	.	.	4.62	3.71	0.42584	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9969	0.47582	0.0:0.9062:0.0:0.0938	.	.	.	.	.	-1	.	.	.	-	.	.	CHIT1	201458885	1.000000	0.71417	0.739000	0.30968	0.434000	0.31775	5.178000	0.65037	1.032000	0.39892	0.655000	0.94253	.	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000100275.2	Intron	-	ENST00000367229.1	Splice_Site	SNP	1 : 203192262 - 203192262 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	823	179
REST	5978	broad.mit.edu	37	4	57777141	57777141	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57777141A>C	ENST00000309042.7	+	2	651	c.337A>C	c.(337-339)Agt>Cgt	p.S113R		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	113	Interaction with SIN3A.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					GGAACTGAGAAGTTTGGAACT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	67	68			NA	NA	4		NA											NA				57777141		2203	4300	6503	SO:0001583	missense			U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093	5978	5978			9966	protein-coding gene	gene with protein product		600571			NA	7871435, 7697725	Standard	NM_005612	NM_005612	NA	Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.337A>C	4.37:g.57777141A>C	ENSP00000311816:p.Ser113Arg	NA	A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	37	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	A	12.05	1.822436	0.32237	.	.	ENSG00000084093	ENST00000456010;ENST00000309042;ENST00000358605	T	0.10005	2.92	5.78	0.215	0.15253	.	0.437967	0.23277	N	0.049948	T	0.15305	0.0369	L	0.51422	1.61	0.09310	N	1	P;D	0.63046	0.944;0.992	P;P	0.59487	0.499;0.858	T	0.08722	-1.0708	10	0.66056	D	0.02	-1.9595	1.5661	0.02605	0.5494:0.1094:0.1623:0.179	.	113;113	Q13127-2;Q13127	.;REST_HUMAN	R	113	ENSP00000311816:S113R	ENSP00000311816:S113R	S	+	1	0	REST	57471898	0.008000	0.16893	0.004000	0.12327	0.060000	0.15804	0.307000	0.19296	0.452000	0.26830	-0.250000	0.11733	AGT	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250691.2		+	ENST00000309042.7	Missense_Mutation	SNP	4 : 57777141 - 57777141 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	408	63
RDH16	8608	broad.mit.edu	37	12	57345960	57345960	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57345960C>T	ENST00000398138.3	-	4	1663	c.807G>A	c.(805-807)gaG>gaA	p.E269E	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	269					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						TCAGCGCATGCTCCATGCAGT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(179;741 2921 43105 45298)							NA				0													95	106	102			NA	NA	12		NA											NA				57345960		2145	4259	6404	SO:0001819	synonymous_variant				CCDS41797.1	12q13.3	2011-09-14	2006-05-09			ENSG00000139547	8608	8608		Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2	29674	protein-coding gene	gene with protein product	microsomal NAD+ dependent retinol dehydrogenase 4, short chain dehydrogenase/reductase family 9C, member 8		retinol dehydrogenase 16 (all-trans and 13-cis)		NA	9677409, 10329026, 19027726	Standard	NM_003708	NM_003708	NA	Approved	RODH-4, SDR9C8	uc001smi.4	O75452		ENST00000398138.3:c.807G>A	12.37:g.57345960C>T		NA	Q9UNV2	37	CCDS41797.1																																																																																			RDH16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410898.1		-	ENST00000398138.3	Silent	SNP	12 : 57345960 - 57345960 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	318	55
EVA1A	84141	broad.mit.edu	37	2	75720521	75720521	+	Silent	SNP	G	G	A	rs146541154	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:75720521G>A	ENST00000410010.1	-	2	374	c.264C>T	c.(262-264)caC>caT	p.H88H	EVA1A_ENST00000410113.1_Silent_p.H100H|EVA1A_ENST00000410071.1_Silent_p.H100H|EVA1A_ENST00000393913.3_Silent_p.H100H|EVA1A_ENST00000233712.1_Silent_p.H100H|EVA1A_ENST00000490746.1_Intron					eva-1 homolog A (C. elegans)	NA											NA						CGAAGCGGCGGTGTCTCCGCA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	52	53			NA	NA	2		NA											NA				75720521		2203	4300	6503	SO:0001819	synonymous_variant			BC016157	CCDS1959.1	2p12	2012-11-05	2012-11-05	2012-11-05	ENSG00000115363	ENSG00000115363	84141	84141			25816	protein-coding gene	gene with protein product			transmembrane protein 166, family with sequence similarity 176, member A	TMEM166, FAM176A	NA	12477932	Standard	NM_032181	NM_001135032	NA	Approved	FLJ13391	uc002sni.2	Q9H8M9	OTTHUMG00000129991	ENST00000410010.1:c.264C>T	2.37:g.75720521G>A		NA		37																																																																																				EVA1A-010	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000328712.1		-	ENST00000410010.1	Silent	SNP	2 : 75720521 - 75720521 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	412	78
ZNF679	168417	broad.mit.edu	37	7	63727090	63727090	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:63727090C>A	ENST00000421025.1	+	5	1348	c.1079C>A	c.(1078-1080)gCc>gAc	p.A360D	ZNF679_ENST00000255746.4_Missense_Mutation_p.A360D	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TGTGGGAAAGCCTTTGCCTTC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	61	62			NA	NA	7		NA											NA				63727090		692	1591	2283	SO:0001583	missense			BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123	168417	168417		Zinc fingers, C2H2-type, -	28650	protein-coding gene	gene with protein product	hypothetical protein MGC42415				NA	12477932	Standard	NM_153363	NM_153363	NA	Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.1079C>A	7.37:g.63727090C>A	ENSP00000416809:p.Ala360Asp	NA		37	CCDS47592.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.453002	0.26161	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.14266	2.52;2.52	0.859	0.859	0.19036	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21590	0.0520	L	0.55990	1.75	0.25459	N	0.987939	D	0.54601	0.967	P	0.57057	0.812	T	0.10359	-1.0633	9	0.87932	D	0	.	4.6426	0.12556	0.0:0.5897:0.4102:0.0	.	360	Q8IYX0	ZN679_HUMAN	D	360	ENSP00000416809:A360D;ENSP00000255746:A360D	ENSP00000255746:A360D	A	+	2	0	ZNF679	63364525	0.000000	0.05858	0.642000	0.29436	0.643000	0.38383	-0.380000	0.07427	0.202000	0.20498	0.205000	0.17691	GCC	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344317.2		+	ENST00000421025.1	Missense_Mutation	SNP	7 : 63727090 - 63727090 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	164	24
PIGL	9487	broad.mit.edu	37	17	16216893	16216893	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16216893C>T	ENST00000395844.4	+	4	476	c.459C>T	c.(457-459)ggC>ggT	p.G153G	PIGL_ENST00000225609.5_Silent_p.G153G|PIGL_ENST00000498772.2_Silent_p.G153G|PIGL_ENST00000581006.1_Intron			Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L	NA					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		GAGTAAGTGGCCACAGCAATC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													238	204	215			NA	NA	17		NA											NA				16216893		2203	4300	6503	SO:0001819	synonymous_variant			AB017165	CCDS11176.1	17p12-p11.2	2013-02-26	2006-06-28		ENSG00000108474	ENSG00000108474	9487	9487	3.5.1.89	Phosphatidylinositol glycan anchor biosynthesis	8966	protein-coding gene	gene with protein product	N-acetylglucosaminylphosphatidylinositol deacetylase	605947	phosphatidylinositol glycan, class L		NA	10085243	Standard		NM_004278	NA	Approved		uc002gpv.3	Q9Y2B2	OTTHUMG00000059346	ENST00000395844.4:c.459C>T	17.37:g.16216893C>T		NA	A8KA67	37																																																																																				PIGL-005	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000131885.2		+	ENST00000395844.4	Silent	SNP	17 : 16216893 - 16216893 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	663	87
ETS2	2114	broad.mit.edu	37	21	40186851	40186851	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40186851G>A	ENST00000360214.3	+	6	911	c.451G>A	c.(451-453)Gca>Aca	p.A151T	ETS2_ENST00000360938.3_Missense_Mutation_p.A151T	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	151	PNT.				positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TCTGGAGCTGGCACCTGACTT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													190	189	189			NA	NA	21		NA											NA				40186851		2203	4300	6503	SO:0001583	missense				CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557	2114	2114			3489	protein-coding gene	gene with protein product		164740	v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)		NA	17986575	Standard		NM_001256295	NA	Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.451G>A	21.37:g.40186851G>A	ENSP00000353344:p.Ala151Thr	NA	A6NM68|D3DSH6|Q53Y89	37	CCDS13659.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369851	0.82573	.	.	ENSG00000157557	ENST00000360214;ENST00000360938;ENST00000432278;ENST00000456966	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.08	5.08	0.68730	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.162599	0.56097	D	0.000033	T	0.50531	0.1621	L	0.48935	1.535	0.58432	D	0.999997	D;D	0.89917	1.0;0.999	D;D	0.72075	0.976;0.955	T	0.49818	-0.8899	10	0.59425	D	0.04	.	18.8647	0.92287	0.0:0.0:1.0:0.0	.	151;151	P15036;C9JAG2	ETS2_HUMAN;.	T	151	ENSP00000353344:A151T;ENSP00000354194:A151T;ENSP00000401273:A151T;ENSP00000411086:A151T	ENSP00000353344:A151T	A	+	1	0	ETS2	39108721	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.843000	0.86859	2.507000	0.84556	0.655000	0.94253	GCA	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207544.1		+	ENST00000360214.3	Missense_Mutation	SNP	21 : 40186851 - 40186851 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	921	99
FAM135A	57579	broad.mit.edu	37	6	71236360	71236360	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:71236360G>A	ENST00000505769.1	+	15	2720	c.2313G>A	c.(2311-2313)tcG>tcA	p.S771S	FAM135A_ENST00000361499.3_Silent_p.S995S|FAM135A_ENST00000457062.2_Silent_p.S978S|FAM135A_ENST00000418814.2_Silent_p.S1191S|FAM135A_ENST00000370479.3_Silent_p.S978S|FAM135A_ENST00000505868.1_Silent_p.S1191S			Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1191										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TCACTTCTTCGATTTCCTGGT	0.348		NA											G	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	4e-04	0.95	EXOME	NA	NA	5e-04	SNP								NA				0													52	55	54			NA	NA	6		NA											NA				71236360		2203	4299	6502	SO:0001819	synonymous_variant			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269	57579	57579			21084	protein-coding gene	gene with protein product			KIAA1411	KIAA1411	NA	10718198	Standard	NM_020819	NM_001105531	NA	Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000505769.1:c.2313G>A	6.37:g.71236360G>A		NA	A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	37																																																																																				FAM135A-004	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000360643.1		+	ENST00000505769.1	Silent	SNP	6 : 71236360 - 71236360 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	431	72
TMC3	342125	broad.mit.edu	37	15	81650547	81650547	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81650547G>A	ENST00000558726.1	-	7	821	c.686C>T	c.(685-687)gCg>gTg	p.A229V	RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.A229V			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	229						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TAGGAAATACGCCAAGGGCAG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	74	72			NA	NA	15		NA											NA				81650547		1919	4111	6030	SO:0001583	missense			AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869	342125	342125			22995	protein-coding gene	gene with protein product					NA	12906855, 12812529	Standard	NM_181841	NM_001080532	NA	Approved		uc021ssk.1	Q7Z5M5		ENST00000558726.1:c.686C>T	15.37:g.81650547G>A	ENSP00000452681:p.Ala229Val	NA	Q7Z405	37		.	.	.	.	.	.	.	.	.	.	G	35	5.540252	0.96474	.	.	ENSG00000188869	ENST00000359440	D	0.85629	-2.01	5.64	5.64	0.86602	.	0.275034	0.34725	N	0.003737	D	0.93203	0.7835	M	0.83312	2.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.988;0.989	D	0.93632	0.6957	10	0.87932	D	0	-20.1369	19.6883	0.95987	0.0:0.0:1.0:0.0	.	229;229	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	V	229	ENSP00000352413:A229V	ENSP00000352413:A229V	A	-	2	0	TMC3	79437602	1.000000	0.71417	0.960000	0.40013	0.893000	0.52053	9.005000	0.93587	2.654000	0.90174	0.650000	0.86243	GCG	TMC3-004	NOVEL	NAGNAG_splice_site|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000439656.1		-	ENST00000558726.1	Missense_Mutation	SNP	15 : 81650547 - 81650547 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	416	67
HSD17B11	51170	broad.mit.edu	37	4	88278563	88278563	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88278563C>T	ENST00000358290.4	-	5	878	c.563G>A	c.(562-564)aGc>aAc	p.S188N	HSD17B11_ENST00000507518.1_5'UTR|HSD17B11_ENST00000507286.1_Missense_Mutation_p.S144N	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	188					androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		AGCAAACTTGCTTGAACTGAA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	62	64			NA	NA	4		NA											NA				88278563		2202	4300	6502	SO:0001583	missense			AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	51170	51170	1.1.1.-	Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3	22960	protein-coding gene	gene with protein product	retinal short-chain dehydrogenase/reductase 2, short chain dehydrogenase/reductase family 16C, member 2	612831	dehydrogenase/reductase (SDR family) member 8	DHRS8	NA	11165019, 12697717, 19027726	Standard	NM_016245	XM_006714232	NA	Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.563G>A	4.37:g.88278563C>T	ENSP00000351035:p.Ser188Asn	NA	Q96HF6|Q9UKU4	37	CCDS3619.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795814	0.70452	.	.	ENSG00000198189	ENST00000358290;ENST00000507286	D;T	0.90676	-2.71;0.08	5.66	5.66	0.87406	NAD(P)-binding domain (1);	0.056065	0.85682	D	0.000000	D	0.97025	0.9028	H	0.98068	4.14	0.40500	D	0.980637	D	0.67145	0.996	D	0.71656	0.974	D	0.98446	1.0589	10	0.87932	D	0	.	14.1698	0.65503	0.0:0.8499:0.1501:0.0	.	188	Q8NBQ5	DHB11_HUMAN	N	188;144	ENSP00000351035:S188N;ENSP00000423775:S144N	ENSP00000351035:S188N	S	-	2	0	HSD17B11	88497587	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.715000	0.47210	2.653000	0.90120	0.561000	0.74099	AGC	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253041.1		-	ENST00000358290.4	Missense_Mutation	SNP	4 : 88278563 - 88278563 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	136	24
WAPAL	23063	broad.mit.edu	37	10	88211754	88211754	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88211754T>C	ENST00000298767.5	-	15	3556	c.3084A>G	c.(3082-3084)ggA>ggG	p.G1028G	WAPAL_ENST00000263070.7_Intron|WAPAL_ENST00000372075.1_Intron	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	1028	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CATGAACTTGTCCACCTATCC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	143	152			NA	NA	10		NA											NA				88211754		2203	4300	6503	SO:0001819	synonymous_variant			AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650	23063	23063			23293	protein-coding gene	gene with protein product	friend of EBNA2	610754	KIAA0261	KIAA0261	NA	9039502, 17112726	Standard	NM_015045	XM_006717726	NA	Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.3084A>G	10.37:g.88211754T>C		NA	A7E2B5|Q5VSK5|Q8IX10|Q92549	37	CCDS7375.1																																																																																			WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049151.2		-	ENST00000298767.5	Silent	SNP	10 : 88211754 - 88211754 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	495	92
CYP2B6	1555	broad.mit.edu	37	19	41509980	41509980	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41509980G>T	ENST00000324071.4	+	2	253	c.246G>T	c.(244-246)gaG>gaT	p.E82D	CYP2B6_ENST00000330446.5_Missense_Mutation_p.E42D|CYP2B6_ENST00000593831.1_Missense_Mutation_p.E6D|CYP2B6_ENST00000598834.1_3'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	82					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GTGGAGTAGAGGCCATACGGG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	82	82			NA	NA	19		NA											NA				41509980		2203	4300	6503	SO:0001583	missense			AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408	1555	1555		Cytochrome P450s	2615	protein-coding gene	gene with protein product		123930	cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6, cytochrome P450, family 2, subfamily B, cytochrome P450, subfamily IIB (phenobarbital-inducible)	CYP2B	NA	7668294, 15128046	Standard	NM_000767	NM_000767	NA	Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.246G>T	19.37:g.41509980G>T	ENSP00000324648:p.Glu82Asp	NA	Q2V565|Q9UK46	37	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	.	10.49	1.363878	0.24684	.	.	ENSG00000197408	ENST00000324071;ENST00000330446	T;T	0.69175	4.95;-0.38	4.15	-8.3	0.01005	.	0.366856	0.28409	N	0.015458	T	0.28995	0.0720	N	0.04275	-0.24	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.22521	-1.0214	10	0.15066	T	0.55	.	5.2272	0.15401	0.0931:0.483:0.1419:0.282	.	42;82	B4DWP3;P20813	.;CP2B6_HUMAN	D	82;42	ENSP00000324648:E82D;ENSP00000330650:E42D	ENSP00000324648:E82D	E	+	3	2	CYP2B6	46201820	0.000000	0.05858	0.000000	0.03702	0.498000	0.33706	-2.960000	0.00673	-3.181000	0.00222	-0.777000	0.03380	GAG	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463260.1		+	ENST00000324071.4	Missense_Mutation	SNP	19 : 41509980 - 41509980 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	710	108
PXK	54899	broad.mit.edu	37	3	58395340	58395340	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58395340C>T	ENST00000463280.1	+	13	1382	c.1291C>T	c.(1291-1293)Cga>Tga	p.R431*	PXK_ENST00000484288.1_Nonsense_Mutation_p.R464*|PXK_ENST00000383715.4_Nonsense_Mutation_p.R447*|PXK_ENST00000302779.5_Nonsense_Mutation_p.R447*|PXK_ENST00000356151.2_Nonsense_Mutation_p.R464*|PXK_ENST00000383716.3_Nonsense_Mutation_p.R431*|PXK_ENST00000536660.1_Nonsense_Mutation_p.R327*|PXK_ENST00000479241.1_Nonsense_Mutation_p.R447*			Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	464	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		GATTTTAGCTCGAAAGGTAAG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	37	37			NA	NA	3		NA											NA				58395340		2202	4299	6501	SO:0001587	stop_gained			AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297	54899	54899			23326	protein-coding gene	gene with protein product		611450			NA		Standard	NM_017771	XM_005265255	NA	Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000463280.1:c.1291C>T	3.37:g.58395340C>T	ENSP00000417903:p.Arg431*	NA	Q3BCH4|Q3BCH5|Q3BCH6|Q3BDW1|Q45L83|Q59EX3|Q6PK17|Q6ZN39|Q96CA3|Q96R07|Q9NXB8	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.792770|7.792770	0.98492|0.98492	.|.	.|.	ENSG00000168297|ENSG00000168297	ENST00000356151;ENST00000302779;ENST00000383716;ENST00000463280;ENST00000383715;ENST00000484288;ENST00000479241;ENST00000536660|ENST00000536750	.|.	.|.	.|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.65842	.|0.2730	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69135	.|-0.5225	.|3	0.08381|.	T|.	0.77|.	-9.0252|-9.0252	14.5269|14.5269	0.67894|0.67894	0.1458:0.8542:0.0:0.0|0.1458:0.8542:0.0:0.0	.|.	.|.	.|.	.|.	X|L	464;447;431;431;447;464;447;327|326	.|.	ENSP00000305045:R447X|.	R|S	+|+	1|2	2|0	PXK|PXK	58370380|58370380	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	2.316000|2.316000	0.43761|0.43761	2.759000|2.759000	0.94783|0.94783	0.643000|0.643000	0.83706|0.83706	CGA|TCG	PXK-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000353500.1		+	ENST00000463280.1	Nonsense_Mutation	SNP	3 : 58395340 - 58395340 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	173	32
WDR47	22911	broad.mit.edu	37	1	109547290	109547290	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109547290C>T	ENST00000369965.4	-	6	1441	c.1181G>A	c.(1180-1182)gGc>gAc	p.G394D	WDR47_ENST00000369962.3_Missense_Mutation_p.G393D|WDR47_ENST00000361054.3_Missense_Mutation_p.G365D|WDR47_ENST00000357672.3_Missense_Mutation_p.G365D|WDR47_ENST00000400794.3_Missense_Mutation_p.G401D	NM_001142550.1|NM_001142551.1|NM_014969.5	NP_001136022.1|NP_001136023.1|NP_055784.3	O94967	WDR47_HUMAN	WD repeat domain 47	393										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TGAACTCTGGCCCAAGATTTC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	117	114			NA	NA	1		NA											NA				109547290		2203	4300	6503	SO:0001583	missense			AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433	22911	22911		WD repeat domain containing	29141	protein-coding gene	gene with protein product		615734			NA	10048485	Standard	NM_014969	NM_014969	NA	Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369965.4:c.1181G>A	1.37:g.109547290C>T	ENSP00000358982:p.Gly394Asp	NA	Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	37	CCDS30787.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114881	0.37339	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.55760	0.5;0.54;0.5;0.5;0.5	5.58	4.48	0.54585	.	0.685635	0.15061	N	0.282753	T	0.17577	0.0422	N	0.08118	0	0.22280	N	0.999237	B;B;B;B	0.15473	0.013;0.0;0.0;0.0	B;B;B;B	0.13407	0.009;0.0;0.0;0.0	T	0.13737	-1.0498	10	0.51188	T	0.08	-25.4215	12.4039	0.55428	0.0:0.8018:0.1227:0.0756	.	365;401;393;394	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	D	401;393;365;394;365	ENSP00000383599:G401D;ENSP00000358979:G393D;ENSP00000354339:G365D;ENSP00000358982:G394D;ENSP00000350301:G365D	ENSP00000350301:G365D	G	-	2	0	WDR47	109348813	0.996000	0.38824	1.000000	0.80357	0.971000	0.66376	2.100000	0.41777	2.622000	0.88805	0.650000	0.86243	GGC	WDR47-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032413.2		-	ENST00000369965.4	Missense_Mutation	SNP	1 : 109547290 - 109547290 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	925	88
EVPL	2125	broad.mit.edu	37	17	74003558	74003558	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74003558C>T	ENST00000301607.3	-	22	5981	c.5728G>A	c.(5728-5730)Gtc>Atc	p.V1910I	EVPL_ENST00000586740.1_Missense_Mutation_p.V1932I	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1910	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TTCTTGGTGACGGGGTCCTCG	0.652		NA											C	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	LOWCOV,EXOME	NA	NA	9e-04	SNP								NA				0													62	54	57			NA	NA	17		NA											NA				74003558		2203	4300	6503	SO:0001583	missense			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880	2125	2125			3503	protein-coding gene	gene with protein product		601590			NA	8938451, 10409435	Standard	NM_001988	NM_001988	NA	Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.5728G>A	17.37:g.74003558C>T	ENSP00000301607:p.Val1910Ile	NA	A0AUV5	37	CCDS11737.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	13.53	2.265785	0.40095	.	.	ENSG00000167880	ENST00000301607	T	0.73258	-0.73	5.48	5.48	0.80851	.	0.125190	0.56097	D	0.000039	T	0.69242	0.3089	N	0.19112	0.55	0.33918	D	0.640524	B;D	0.71674	0.059;0.998	B;P	0.55011	0.029;0.766	T	0.71820	-0.4477	10	0.23302	T	0.38	-58.9386	19.3612	0.94438	0.0:1.0:0.0:0.0	.	1932;1910	B7ZLH8;Q92817	.;EVPL_HUMAN	I	1910	ENSP00000301607:V1910I	ENSP00000301607:V1910I	V	-	1	0	EVPL	71515153	0.682000	0.27624	0.973000	0.42090	0.878000	0.50629	1.257000	0.32932	2.564000	0.86499	0.561000	0.74099	GTC	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449483.1		-	ENST00000301607.3	Missense_Mutation	SNP	17 : 74003558 - 74003558 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	410	70
MORC1	27136	broad.mit.edu	37	3	108724083	108724083	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108724083G>A	ENST00000483760.1	-	18	1827	c.1784C>T	c.(1783-1785)gCg>gTg	p.A595V	MORC1_ENST00000232603.5_Missense_Mutation_p.A616V			Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	616					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TCTACGGCTCGCTGAAAGCTC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	56	55			NA	NA	3		NA											NA				108724083		2203	4299	6502	SO:0001583	missense			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487	27136	27136			7198	protein-coding gene	gene with protein product	cancer/testis antigen 33	603205	microrchidia (mouse) homolog, microrchidia homolog (mouse)	MORC	NA	10369865	Standard		NM_014429	NA	Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1784C>T	3.37:g.108724083G>A	ENSP00000417282:p.Ala595Val	NA	Q7L8E2|Q9NSG7|Q9Y6D4	37		.	.	.	.	.	.	.	.	.	.	G	0.074	-1.196536	0.01594	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.05649	3.46;3.41	4.36	-0.911	0.10507	.	1.681880	0.03430	N	0.207656	T	0.02119	0.0066	N	0.01576	-0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39761	-0.9598	10	0.09843	T	0.71	2.5591	3.2697	0.06878	0.5113:0.0:0.2992:0.1894	.	595;616	E7ERX1;Q86VD1	.;MORC1_HUMAN	V	616;595	ENSP00000232603:A616V;ENSP00000417282:A595V	ENSP00000232603:A616V	A	-	2	0	MORC1	110206773	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.416000	0.21198	-0.141000	0.11374	-0.295000	0.09555	GCG	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000353844.1		-	ENST00000483760.1	Missense_Mutation	SNP	3 : 108724083 - 108724083 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	351	16
H2AFY	9555	broad.mit.edu	37	5	134696257	134696257	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134696257C>A	ENST00000304332.4	-	5	686	c.515G>T	c.(514-516)aGc>aTc	p.S172I	H2AFY_ENST00000512507.1_5'UTR|H2AFY_ENST00000511689.1_Missense_Mutation_p.S173I|H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000510038.1_Missense_Mutation_p.S173I|H2AFY_ENST00000312469.4_Missense_Mutation_p.S173I	NM_004893.2	NP_004884.1	O75367	H2AY_HUMAN	H2A histone family, member Y	173					chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTCGGTTGTGCTGTCGGCGCT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	94	99			NA	NA	5		NA											NA				134696257		2203	4300	6503	SO:0001583	missense			AF054174	CCDS4183.1, CCDS4184.1, CCDS4185.1	5q31.1	2011-01-27			ENSG00000113648	ENSG00000113648	9555	9555		Histones / Replication-independent	4740	protein-coding gene	gene with protein product		610054			NA	9653160, 9714746	Standard	NM_004893	NM_004893	NA	Approved	macroH2A1.2	uc003lam.1	O75367	OTTHUMG00000129141	ENST00000304332.4:c.515G>T	5.37:g.134696257C>A	ENSP00000302572:p.Ser172Ile	NA	O75377|Q503A8|Q7Z5E3|Q96D41|Q9H8P3|Q9UP96	37	CCDS4183.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787136	0.90367	.	.	ENSG00000113648	ENST00000511689;ENST00000304332;ENST00000312469;ENST00000510038	T;T;T;T	0.26373	1.78;1.74;1.83;1.78	5.84	5.84	0.93424	.	0.075115	0.85682	D	0.000000	T	0.52208	0.1720	M	0.61703	1.905	0.58432	D	0.999999	D;D;D	0.76494	0.993;0.999;0.987	P;D;P	0.85130	0.808;0.997;0.648	T	0.49624	-0.8920	10	0.87932	D	0	.	20.1551	0.98106	0.0:1.0:0.0:0.0	.	172;173;173	O75367-3;O75367-2;O75367	.;.;H2AY_HUMAN	I	173;172;173;173	ENSP00000423563:S173I;ENSP00000302572:S172I;ENSP00000310169:S173I;ENSP00000424971:S173I	ENSP00000302572:S172I	S	-	2	0	H2AFY	134724156	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.543000	0.67225	2.760000	0.94817	0.655000	0.94253	AGC	H2AFY-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000371702.1		-	ENST00000304332.4	Missense_Mutation	SNP	5 : 134696257 - 134696257 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	432	26
PABPN1	8106	broad.mit.edu	37	14	23793489	23793489	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23793489G>A	ENST00000397276.2	+	6	885	c.872G>A	c.(871-873)cGc>cAc	p.R291H	BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.R318H|PABPN1_ENST00000556821.1_Missense_Mutation_p.R163H|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.R318H|PABPN1_ENST00000216727.4_Missense_Mutation_p.R291H|PABPN1_ENST00000557702.1_Missense_Mutation_p.R163H					poly(A) binding protein, nuclear 1	NA								p.R291L(1)		large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CCCCGGGGTCGCGTCTACAGG	0.632		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)											75	76	76			NA	NA	14		NA											NA				23793489		2203	4300	6503	SO:0001583	missense			AF026029	CCDS9592.1	14q11.2	2013-02-12	2001-11-28		ENSG00000100836	ENSG00000100836	8106	8106		RNA binding motif (RRM) containing	8565	protein-coding gene	gene with protein product		602279	poly(A)-binding protein, nuclear 1	OPMD, PABP2	NA	7795598	Standard	NM_004643	NM_004643	NA	Approved	PAB2		Q86U42	OTTHUMG00000028739	ENST00000397276.2:c.872G>A	14.37:g.23793489G>A	ENSP00000380446:p.Arg291His	NA		37		.	.	.	.	.	.	.	.	.	.	G	21.3	4.123026	0.77436	.	.	ENSG00000258643;ENSG00000258643;ENSG00000100836;ENSG00000100836;ENSG00000100836;ENSG00000100836	ENST00000553781;ENST00000557008;ENST00000216727;ENST00000397276;ENST00000556821;ENST00000557702	T;T;T;T;T;T	0.61392	2.68;2.68;0.11;0.38;2.02;2.04	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.74809	0.3765	M	0.65975	2.015	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;P	0.80764	0.987;0.994;0.731	T	0.74438	-0.3665	10	0.46703	T	0.11	-20.7803	18.1036	0.89513	0.0:0.0:1.0:0.0	.	291;291;318	Q86U42;Q86U42-2;G3V5R7	PABP2_HUMAN;.;.	H	318;318;291;291;163;163	ENSP00000451320:R318H;ENSP00000452479:R318H;ENSP00000216727:R291H;ENSP00000380446:R291H;ENSP00000451970:R163H;ENSP00000450724:R163H	ENSP00000216727:R291H	R	+	2	0	PABPN1;RP11-124D2.2	22863329	1.000000	0.71417	0.991000	0.47740	0.972000	0.66771	8.878000	0.92393	2.581000	0.87130	0.655000	0.94253	CGC	PABPN1-003	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000071766.4		+	ENST00000397276.2	Missense_Mutation	SNP	14 : 23793489 - 23793489 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	657	16
ZCCHC24	219654	broad.mit.edu	37	10	81192458	81192458	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81192458G>A	ENST00000372333.3	-	2	174	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C	ZCCHC24_ENST00000372336.3_Silent_p.I101I			Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	21							nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						GGCCATCGGCGATGTTGTTGA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	68	76			NA	NA	10		NA											NA				81192458		2203	4300	6503	SO:0001583	missense			AK075279	CCDS7359.1	10q22.3	2014-02-20	2008-06-23	2008-06-23	ENSG00000165424	ENSG00000165424	219654	219654		Zinc fingers, CCHC domain containing	26911	protein-coding gene	gene with protein product	zinc finger, 3CxxC-type 8		chromosome 10 open reading frame 56	C10orf56	NA	12477932	Standard	NM_153367	NM_153367	NA	Approved	FLJ90798, Z3CXXC8	uc010qlr.2	Q8N2G6	OTTHUMG00000018561	ENST00000372333.3:c.124C>T	10.37:g.81192458G>A	ENSP00000361408:p.Arg42Cys	NA	Q5U5T9|Q8TAG0	37		.	.	.	.	.	.	.	.	.	.	G	8.715	0.912981	0.17907	.	.	ENSG00000165424	ENST00000372333	.	.	.	5.96	-0.211	0.13172	.	.	.	.	.	T	0.35770	0.0943	.	.	.	0.31535	N	0.660723	B	0.13145	0.007	B	0.09377	0.004	T	0.26643	-1.0097	7	0.87932	D	0	-7.9604	7.8954	0.29704	0.4477:0.0:0.4252:0.1272	.	42	Q5W133	.	C	42	.	ENSP00000361408:R42C	R	-	1	0	ZCCHC24	80862464	0.994000	0.37717	0.856000	0.33681	0.836000	0.47400	0.284000	0.18864	-0.561000	0.06094	-2.048000	0.00412	CGC	ZCCHC24-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000048948.1		-	ENST00000372333.3	Missense_Mutation	SNP	10 : 81192458 - 81192458 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	264	41
MAPK7	5598	broad.mit.edu	37	17	19283107	19283107	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19283107C>T	ENST00000308406.5	+	3	631	c.245C>T	c.(244-246)gCc>gTc	p.A82V	MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000299612.7_Intron|MAPK7_ENST00000395602.4_Missense_Mutation_p.A82V|MAPK7_ENST00000395604.3_Missense_Mutation_p.A82V	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	82	Protein kinase.|Required for binding to MAP2K5 (By similarity).				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|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	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CAGCAGGTGGCCATCAAGAAG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	95	96			NA	NA	17		NA											NA				19283107		2203	4300	6503	SO:0001583	missense			U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	5598	5598	2.7.11.24	Mitogen-activated protein kinase cascade / Kinases	6880	protein-coding gene	gene with protein product	BMK1 kinase, extracellular-signal-regulated kinase 5	602521		PRKM7	NA	10072598, 7759517	Standard	NM_139033	NM_139032	NA	Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.245C>T	17.37:g.19283107C>T	ENSP00000311005:p.Ala82Val	NA	Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	37	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	C	31	5.103757	0.94245	.	.	ENSG00000166484	ENST00000308406;ENST00000443215;ENST00000395604;ENST00000395602	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	4.17	4.17	0.49024	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.112002	0.64402	D	0.000012	D	0.86531	0.5955	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89638	0.3860	10	0.87932	D	0	-16.6401	14.3915	0.66983	0.0:1.0:0.0:0.0	.	82	Q13164	MK07_HUMAN	V	82	ENSP00000311005:A82V;ENSP00000412902:A82V;ENSP00000378968:A82V;ENSP00000378966:A82V	ENSP00000311005:A82V	A	+	2	0	MAPK7	19223700	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.293000	0.78740	2.327000	0.79052	0.460000	0.39030	GCC	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132506.1		+	ENST00000308406.5	Missense_Mutation	SNP	17 : 19283107 - 19283107 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	514	41
ZNF570	148268	broad.mit.edu	37	19	37966858	37966858	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37966858C>T	ENST00000330173.1	+	3	638	c.109C>T	c.(109-111)Cat>Tat	p.H37Y	ZNF570_ENST00000586475.1_Missense_Mutation_p.H93Y|ZNF570_ENST00000388801.3_5'UTR	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	37	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCTCAAAGACATCTGTACAG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	166	168			NA	NA	19		NA											NA				37966858		2203	4300	6503	SO:0001583	missense			AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827	148268	148268		Zinc fingers, C2H2-type, -	26416	protein-coding gene	gene with protein product					NA		Standard	NM_144694	XM_005258567	NA	Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.109C>T	19.37:g.37966858C>T	ENSP00000331540:p.His37Tyr	NA	A1L472	37	CCDS12504.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.787338	0.31593	.	.	ENSG00000171827	ENST00000330173	T	0.01685	4.69	3.57	2.45	0.29901	Krueppel-associated box (4);	.	.	.	.	T	0.02012	0.0063	N	0.25825	0.765	0.19775	N	0.999951	P	0.42078	0.77	B	0.41271	0.352	T	0.51301	-0.8723	9	0.72032	D	0.01	.	10.5408	0.45031	0.0:0.7828:0.2172:0.0	.	37	Q96NI8	ZN570_HUMAN	Y	37	ENSP00000331540:H37Y	ENSP00000331540:H37Y	H	+	1	0	ZNF570	42658698	0.000000	0.05858	0.973000	0.42090	0.756000	0.42949	-0.054000	0.11826	1.822000	0.53115	0.467000	0.42956	CAT	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109600.1		+	ENST00000330173.1	Missense_Mutation	SNP	19 : 37966858 - 37966858 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	483	90
RAPGEF6	51735	broad.mit.edu	37	5	130766692	130766692	+	Missense_Mutation	SNP	G	G	A	rs76543406	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130766692G>A	ENST00000507093.1	-	27	4530	c.4349C>T	c.(4348-4350)aCg>aTg	p.T1450M	RAPGEF6_ENST00000307984.5_Missense_Mutation_p.T1455M|RAPGEF6_ENST00000509018.1_Missense_Mutation_p.T1442M|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.T1492M|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.T1450M	NM_001164388.1	NP_001157860.1	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1442					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TGGTTCATACGTGTCAGACAG	0.493		NA											G	16	0.01	0.03	0.0028	2184	NA	1	,	,	NA	6e-04	NA	NA	NA	0.0073	0.997	LOWCOV,EXOME	NA	NA	4e-04	SNP	Melanoma(168;435 1955 13113 13877 23213)							NA				0								G	MET/THR,MET/THR,MET/THR,MET/THR	86,4320	73.1+/-111.1	1,84,2118	139	142	141		4349,4364,4349,4325	4.1	0.7	5	dbSNP_131	141	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense	RAPGEF6	NM_001164386.1,NM_001164387.1,NM_001164388.1,NM_016340.5	81,81,81,81	1,86,6416	AA,AG,GG	NA	0.0233,1.9519,0.6766	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1450/1610,1455/1510,1450/1505,1442/1602	130766692	88,12918	2203	4300	6503	SO:0001583	missense			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987	51735	51735			20655	protein-coding gene	gene with protein product		610499	PDZ domain containing guanine nucleotide exchange factor (GEF) 2	PDZGEF2	NA	11524421, 12095257	Standard	NM_016340	NM_016340	NA	Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000507093.1:c.4349C>T	5.37:g.130766692G>A	ENSP00000426081:p.Thr1450Met	NA	Q8NI21|Q8TEU6|Q96PC1	37	CCDS54899.1	16	0.007326007326007326	15	0.03048780487804878	1	0.0027624309392265192	0	0.0	0	0.0	G	17.69	3.450925	0.63290	0.019519	2.33E-4	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000514667	T;T;T;T;T	0.27256	1.78;1.68;1.68;1.78;1.88	5.0	4.14	0.48551	.	0.294441	0.36778	N	0.002408	T	0.21718	0.0523	M	0.65975	2.015	0.80722	D	1	D;D;D;D;D	0.76494	0.984;0.999;0.999;0.994;0.999	P;P;P;P;P	0.62382	0.667;0.776;0.776;0.901;0.776	T	0.17167	-1.0378	10	0.54805	T	0.06	.	13.946	0.64084	0.074:0.0:0.926:0.0	.	1450;1450;1492;1455;1442	A3KN82;B7ZML2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;RPGF6_HUMAN	M	1442;1455;1450;1450;1455;1492	ENSP00000421684:T1442M;ENSP00000309298:T1455M;ENSP00000426081:T1450M;ENSP00000296859:T1450M;ENSP00000426948:T1492M	ENSP00000426948:T1492M	T	-	2	0	RAPGEF6;FNIP1	130794591	1.000000	0.71417	0.653000	0.29593	0.962000	0.63368	3.722000	0.54948	1.248000	0.43934	-0.126000	0.14955	ACG	RAPGEF6-003	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370061.1		-	ENST00000507093.1	Missense_Mutation	SNP	5 : 130766692 - 130766692 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	773	44
ABCA5	23461	broad.mit.edu	37	17	67266820	67266820	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67266820A>G	ENST00000392676.3	-	22	3028	c.2964T>C	c.(2962-2964)agT>agC	p.S988S	ABCA5_ENST00000588877.1_Silent_p.S988S|ABCA5_ENST00000392677.2_Silent_p.S989S			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	988					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					GATAGTAGTTACTAATGATAT	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	104	100			NA	NA	17		NA											NA				67266820		2201	4268	6469	SO:0001819	synonymous_variant			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265	23461	23461		ATP binding cassette transporters / subfamily A	35	protein-coding gene	gene with protein product		612503			NA	8894702	Standard	NM_018672	NM_172232	NA	Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.2964T>C	17.37:g.67266820A>G		NA	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	37	CCDS11685.1																																																																																			ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450654.1		-	ENST00000392676.3	Silent	SNP	17 : 67266820 - 67266820 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	664	131
PCDHB4	56131	broad.mit.edu	37	5	140503686	140503686	+	Missense_Mutation	SNP	C	C	A	rs145434045	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140503686C>A	ENST00000194152.1	+	1	2106	c.2106C>A	c.(2104-2106)ttC>ttA	p.F702L		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	702					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTTCCTCTTCTCGGTGCTCC	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	81	78			NA	NA	5		NA											NA				140503686		2189	4263	6452	SO:0001583	missense			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818	56131	56131		Cadherins / Protocadherins : Clustered	8689	other	protocadherin		606330			NA	10380929	Standard	NM_018938	NM_018938	NA	Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.2106C>A	5.37:g.140503686C>A	ENSP00000194152:p.Phe702Leu	NA	Q4V761	37	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	C	6.535	0.466958	0.12402	.	.	ENSG00000081818	ENST00000194152	T	0.07444	3.19	4.53	-2.89	0.05665	.	.	.	.	.	T	0.02807	0.0084	N	0.04686	-0.185	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45116	-0.9283	9	0.02654	T	1	.	7.5874	0.28002	0.0968:0.208:0.5636:0.1315	.	702	Q9Y5E5	PCDB4_HUMAN	L	702	ENSP00000194152:F702L	ENSP00000194152:F702L	F	+	3	2	PCDHB4	140483870	0.000000	0.05858	0.000000	0.03702	0.752000	0.42762	-7.911000	0.00028	-0.736000	0.04831	-1.724000	0.00704	TTC	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251812.2		+	ENST00000194152.1	Missense_Mutation	SNP	5 : 140503686 - 140503686 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1710	311
C12orf44	0	broad.mit.edu	37	12	52470606	52470606	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52470606C>T	ENST00000336854.4	+	4	767	c.289C>T	c.(289-291)Cag>Tag	p.Q97*		NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN		97					autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		TGGGCTGGGGCAGATGTCCTT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	87	90			NA	NA	12		NA											NA				52470606		2203	4300	6503	SO:0001587	stop_gained											NA	NA			NA							NA					NA						ENST00000336854.4:c.289C>T	12.37:g.52470606C>T	ENSP00000338990:p.Gln97*	NA	Q9HAE2|Q9HBN1	37	CCDS8820.1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999222	0.93227	.	.	ENSG00000123395	ENST00000336854;ENST00000553049;ENST00000548915;ENST00000550984	.	.	.	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-16.0403	16.5961	0.84796	0.0:1.0:0.0:0.0	.	.	.	.	X	97	.	ENSP00000338990:Q97X	Q	+	1	0	C12orf44	50756873	1.000000	0.71417	0.999000	0.59377	0.762000	0.43233	7.252000	0.78309	2.507000	0.84556	0.655000	0.94253	CAG	C12orf44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405063.1		+	ENST00000336854.4	Nonsense_Mutation	SNP	12 : 52470606 - 52470606 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	339	56
SLCO3A1	28232	broad.mit.edu	37	15	92647576	92647576	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:92647576C>T	ENST00000424469.2	+	4	866	c.813C>T	c.(811-813)tgC>tgT	p.C271C	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000318445.6_Silent_p.C271C	NM_001145044.1	NP_001138516.1	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	271					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			TTCTGCTCTGCGGTGCCTTAC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													222	196	205			NA	NA	15		NA											NA				92647576		2198	4298	6496	SO:0001819	synonymous_variant			AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463	28232	28232		Solute carriers	10952	protein-coding gene	gene with protein product		612435	solute carrier family 21 (organic anion transporter), member 11	SLC21A11	NA		Standard	NM_013272	NM_001145044	NA	Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000424469.2:c.813C>T	15.37:g.92647576C>T		NA	A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	37	CCDS45354.1																																																																																			SLCO3A1-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414816.1		+	ENST00000424469.2	Silent	SNP	15 : 92647576 - 92647576 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1049	95
LYST	1130	broad.mit.edu	37	1	235972089	235972089	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235972089T>C	ENST00000389794.3	-	5	2203	c.2029A>G	c.(2029-2031)Atc>Gtc	p.I677V	LYST_ENST00000536965.1_Missense_Mutation_p.I677V|LYST_ENST00000389793.2_Missense_Mutation_p.I677V			Q99698	LYST_HUMAN	lysosomal trafficking regulator	677					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTGGGCAGGATCCCTTGAAAT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	89	88			NA	NA	1		NA											NA				235972089		2203	4300	6503	SO:0001583	missense			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669	1130	1130		WD repeat domain containing	1968	protein-coding gene	gene with protein product		606897	Chediak-Higashi syndrome 1	CHS1	NA	8717042, 8896560	Standard		NM_000081	NA	Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.2029A>G	1.37:g.235972089T>C	ENSP00000374444:p.Ile677Val	NA	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	T	12.70	2.017098	0.35606	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.68624	-0.34;-0.34;1.11	5.4	4.28	0.50868	.	0.289633	0.33023	N	0.005373	T	0.60366	0.2263	M	0.62723	1.935	0.48511	D	0.999667	B;B	0.17038	0.005;0.02	B;B	0.16289	0.01;0.015	T	0.53479	-0.8433	10	0.19147	T	0.46	.	11.144	0.48419	0.0:0.0727:0.0:0.9273	.	677;677	Q99698-3;Q99698	.;LYST_HUMAN	V	677	ENSP00000374444:I677V;ENSP00000374443:I677V;ENSP00000438315:I677V	ENSP00000374443:I677V	I	-	1	0	LYST	234038712	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	3.213000	0.51153	0.890000	0.36211	0.533000	0.62120	ATC	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097533.5		-	ENST00000389794.3	Missense_Mutation	SNP	1 : 235972089 - 235972089 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	390	69
SEPT5	5413	broad.mit.edu	37	22	19709181	19709181	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19709181G>A	ENST00000438754.2	+	8	1043	c.763G>A	c.(763-765)Gtt>Att	p.V255I	SEPT5_ENST00000455784.2_Missense_Mutation_p.V246I|SEPT5_ENST00000383045.3_Missense_Mutation_p.V255I|SEPT5_ENST00000406395.1_Missense_Mutation_p.V246I	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN	septin 5	246					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					GCCCTTCGCCGTTATAGGCAG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	47	44			NA	NA	22		NA											NA				19709181		2203	4299	6502	SO:0001583	missense			Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702	5413	5413		Septins	9164	protein-coding gene	gene with protein product		602724	peanut-like 1 (Drosophila)	PNUTL1	NA	9385360, 9611266	Standard	NM_002688	NM_002688	NA	Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000438754.2:c.763G>A	22.37:g.19709181G>A	ENSP00000394541:p.Val255Ile	NA	O15251	37	CCDS56224.1	.	.	.	.	.	.	.	.	.	.	G	33	5.248348	0.95305	.	.	ENSG00000184702	ENST00000455784;ENST00000406395;ENST00000412544;ENST00000431124;ENST00000383045;ENST00000438754	T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75	3.92	2.9	0.33743	.	0.000000	0.64402	D	0.000001	T	0.58864	0.2152	L	0.58669	1.825	0.58432	D	0.999995	P	0.51147	0.942	P	0.60068	0.868	T	0.61476	-0.7055	10	0.62326	D	0.03	.	11.7634	0.51916	0.0873:0.0:0.9127:0.0	.	246	Q99719	SEPT5_HUMAN	I	246;246;199;284;255;255	ENSP00000391311:V246I;ENSP00000384535:V246I;ENSP00000408678:V199I;ENSP00000414488:V284I;ENSP00000372515:V255I;ENSP00000394541:V255I	ENSP00000372515:V255I	V	+	1	0	SEPT5	18089181	1.000000	0.71417	0.008000	0.14137	0.367000	0.29736	9.496000	0.97967	1.011000	0.39340	0.478000	0.44815	GTT	SEPT5-002	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317938.5		+	ENST00000438754.2	Missense_Mutation	SNP	22 : 19709181 - 19709181 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	511	26
TLR1	7096	broad.mit.edu	37	4	38798201	38798201	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:38798201G>A	ENST00000502213.2	-	3	2481	c.2252C>T	c.(2251-2253)gCc>gTc	p.A751V	TLR1_ENST00000308979.2_Missense_Mutation_p.A751V			Q15399	TLR1_HUMAN	toll-like receptor 1	751	TIR.				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AGTCCTCCTGGCCATGAGACT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(5;216 373 40795 46382)							NA				0													114	108	110			NA	NA	4		NA											NA				38798201		2203	4300	6503	SO:0001583	missense			U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125	7096	7096		CD molecules	11847	protein-coding gene	gene with protein product		601194			NA	9435236, 7584026	Standard		NM_003263	NA	Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.2252C>T	4.37:g.38798201G>A	ENSP00000421259:p.Ala751Val	NA	O15452|Q32MK3|Q9UG90	37	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.838515	0.32513	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	D;D	0.83419	-1.72;-1.72	5.2	3.44	0.39384	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.292074	0.28135	N	0.016470	D	0.83547	0.5278	M	0.71581	2.175	0.37433	D	0.914121	P	0.41929	0.765	P	0.45794	0.493	D	0.85029	0.0916	10	0.72032	D	0.01	.	10.1212	0.42621	0.0714:0.0:0.7915:0.1371	.	751	Q15399	TLR1_HUMAN	V	751	ENSP00000354932:A751V;ENSP00000421259:A751V	ENSP00000354932:A751V	A	-	2	0	TLR1	38474596	0.270000	0.24152	0.617000	0.29091	0.051000	0.14879	1.387000	0.34430	0.677000	0.31305	-0.251000	0.11542	GCC	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360510.3		-	ENST00000502213.2	Missense_Mutation	SNP	4 : 38798201 - 38798201 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	413	79
ZBTB16	7704	broad.mit.edu	37	11	113934573	113934573	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113934573G>A	ENST00000335953.4	+	2	931	c.551G>A	c.(550-552)aGc>aAc	p.S184N	ZBTB16_ENST00000392996.2_Missense_Mutation_p.S184N	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	184					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GTGGACCAGAGCCCTTCAGTC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	58	57			NA	NA	11		NA											NA				113934573		2201	4296	6497	SO:0001583	missense			Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906	7704	7704		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	12930	protein-coding gene	gene with protein product	promyelocytic leukaemia zinc finger	176797	zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)	ZNF145	NA		Standard	NM_006006	XM_006718899	NA	Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.551G>A	11.37:g.113934573G>A	ENSP00000338157:p.Ser184Asn	NA	Q8TAL4	37	CCDS8367.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.912424	0.52439	.	.	ENSG00000109906	ENST00000335953;ENST00000392996;ENST00000310883	T;T	0.10288	2.89;2.89	5.67	4.74	0.60224	.	0.117422	0.85682	D	0.000000	T	0.09335	0.0230	L	0.27053	0.805	0.58432	D	0.999996	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.15150	-1.0447	10	0.35671	T	0.21	-4.991	15.5488	0.76129	0.0695:0.0:0.9305:0.0	.	184;189	Q05516;Q59H43	ZBT16_HUMAN;.	N	184	ENSP00000338157:S184N;ENSP00000376721:S184N	ENSP00000309507:S184N	S	+	2	0	ZBTB16	113439783	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.567000	0.73983	2.828000	0.97474	0.655000	0.94253	AGC	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398940.1		+	ENST00000335953.4	Missense_Mutation	SNP	11 : 113934573 - 113934573 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	397	78
FCGBP	8857	broad.mit.edu	37	19	40421334	40421334	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40421334T>C	ENST00000221347.6	-	5	2594	c.2587A>G	c.(2587-2589)Acc>Gcc	p.T863A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	863	VWFD 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCCTGGCAGGTCCCGAAGCGA	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	21	20			NA	NA	19		NA											NA				40421334		2199	4298	6497	SO:0001583	missense			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395	8857	8857			13572	protein-coding gene	gene with protein product	IgG Fc binding protein, Human Fc gamma BP				NA	9182547	Standard	NM_003890	NM_003890	NA	Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.2587A>G	19.37:g.40421334T>C	ENSP00000221347:p.Thr863Ala	NA	O95784	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	T	14.11	2.436705	0.43224	.	.	ENSG00000090920	ENST00000221347	T	0.21191	2.02	4.06	4.06	0.47325	von Willebrand factor, type D domain (2);	0.536654	0.16074	N	0.230839	T	0.36771	0.0979	M	0.91872	3.25	0.24075	N	0.995967	B	0.29571	0.249	B	0.37601	0.254	T	0.35968	-0.9767	10	0.18710	T	0.47	.	12.4173	0.55500	0.0:0.0:0.0:1.0	.	863	Q9Y6R7	FCGBP_HUMAN	A	863	ENSP00000221347:T863A	ENSP00000221347:T863A	T	-	1	0	FCGBP	45113174	0.001000	0.12720	0.092000	0.20876	0.195000	0.23768	0.973000	0.29422	1.845000	0.53610	0.402000	0.26972	ACC	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462507.1		-	ENST00000221347.6	Missense_Mutation	SNP	19 : 40421334 - 40421334 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	108	21
ICOSLG	23308	broad.mit.edu	37	21	45657062	45657062	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45657062C>T	ENST00000407780.3	-	3	221	c.94G>A	c.(94-96)Gac>Aac	p.D32N	ICOSLG_ENST00000344330.4_Missense_Mutation_p.D32N|ICOSLG_ENST00000400379.3_Missense_Mutation_p.D32N|ICOSLG_ENST00000400377.3_Intron	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	32	Ig-like V-type.				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		AGCTCCACGTCGCTGCCTACC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	83	81			NA	NA	21		NA											NA				45657062		2085	4227	6312	SO:0001583	missense			AB014553	CCDS42952.1, CCDS63377.1, CCDS63379.1	21q22.3	2014-01-30		2005-01-12	ENSG00000160223	ENSG00000160223	23308	23308		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Endogenous ligands	17087	protein-coding gene	gene with protein product	B7-related protein 1, B7 homologue 2, B7 homolog 2	605717		ICOSL	NA	9734811, 11007762	Standard	NM_015259	NM_001283050	NA	Approved	KIAA0653, GL50, B7-H2, B7RP-1, B7H2, B7RP1, ICOS-L, CD275	uc002zee.3	O75144	OTTHUMG00000086920	ENST00000407780.3:c.94G>A	21.37:g.45657062C>T	ENSP00000384432:p.Asp32Asn	NA	Q9HD18|Q9NRQ1	37	CCDS42952.1	.	.	.	.	.	.	.	.	.	.	C	7.822	0.717906	0.15372	.	.	ENSG00000160223	ENST00000344330;ENST00000407780;ENST00000400379	T;T;T	0.62232	0.04;0.04;0.04	4.68	-4.85	0.03142	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.445410	0.04345	N	0.354666	T	0.41971	0.1182	N	0.21373	0.66	0.09310	N	1	B;B	0.34147	0.438;0.438	B;B	0.26310	0.068;0.068	T	0.24584	-1.0156	10	0.12430	T	0.62	.	12.777	0.57455	0.0:0.2087:0.0:0.7913	.	32;32	A0N0L8;O75144	.;ICOSL_HUMAN	N	32	ENSP00000339477:D32N;ENSP00000384432:D32N;ENSP00000383230:D32N	ENSP00000339477:D32N	D	-	1	0	ICOSLG	44481490	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-0.503000	0.06383	-1.045000	0.03250	-0.150000	0.13652	GAC	ICOSLG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195838.1		-	ENST00000407780.3	Missense_Mutation	SNP	21 : 45657062 - 45657062 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	46
UBA6	55236	broad.mit.edu	37	4	68490771	68490771	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68490771G>A	ENST00000322244.5	-	29	2712	c.2653C>T	c.(2653-2655)Cgc>Tgc	p.R885C		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	NA					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						CCAGCTATGCGCTTTGTTTTG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/ARG	0,4406		0,0,2203	126	115	118		2653	5.5	1	4		118	1,8597	1.2+/-3.3	0,1,4298	no	missense	UBA6	NM_018227.5	180	0,1,6501	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	885/1053	68490771	1,13003	2203	4299	6502	SO:0001583	missense			AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178	55236	55236		Ubiquitin-like modifier activating enzymes	25581	protein-coding gene	gene with protein product	UBA6, ubiquitin-activating enzyme E1	611361	ubiquitin-activating enzyme E1-like 2	UBE1L2	NA	17580310	Standard	NM_018227	NM_018227	NA	Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.2653C>T	4.37:g.68490771G>A	ENSP00000313454:p.Arg885Cys	NA	A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	37	CCDS3516.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787040	0.70337	0.0	1.16E-4	ENSG00000033178	ENST00000322244	T	0.46451	0.87	5.52	5.52	0.82312	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.000000	0.85682	D	0.000000	T	0.66336	0.2779	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	T	0.69924	-0.5013	10	0.62326	D	0.03	-13.1519	17.6191	0.88076	0.0:0.0:1.0:0.0	.	885	A0AVT1	UBA6_HUMAN	C	885	ENSP00000313454:R885C	ENSP00000313454:R885C	R	-	1	0	UBA6	68173366	1.000000	0.71417	0.997000	0.53966	0.337000	0.28794	5.588000	0.67517	2.566000	0.86566	0.655000	0.94253	CGC	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251429.2		-	ENST00000322244.5	Missense_Mutation	SNP	4 : 68490771 - 68490771 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	74
OR6A2	8590	broad.mit.edu	37	11	6816882	6816882	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6816882C>T	ENST00000332601.3	-	1	246	c.58G>A	c.(58-60)Gct>Act	p.A20T		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGCGCAGGAGCAGGGAAGCCC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	98	108			NA	NA	11		NA											NA				6816882		2201	4296	6497	SO:0001583	missense			AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933	8590	8590		GPCR / Class A : Olfactory receptors	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1	NA		Standard	NM_003696	NM_003696	NA	Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.58G>A	11.37:g.6816882C>T	ENSP00000330384:p.Ala20Thr	NA	Q3MJC7|Q6IF35|Q9H206	37	CCDS7772.1	.	.	.	.	.	.	.	.	.	.	C	3.006	-0.204918	0.06180	.	.	ENSG00000184933	ENST00000332601	T	0.00438	7.42	4.75	3.84	0.44239	.	0.277043	0.24766	N	0.035767	T	0.00178	0.0005	N	0.02334	-0.595	0.30921	N	0.728018	P	0.48764	0.915	P	0.45276	0.475	T	0.45804	-0.9236	10	0.05833	T	0.94	.	7.4668	0.27326	0.0:0.8079:0.0:0.1921	.	20	O95222	OR6A2_HUMAN	T	20	ENSP00000330384:A20T	ENSP00000330384:A20T	A	-	1	0	OR6A2	6773458	0.000000	0.05858	0.980000	0.43619	0.035000	0.12851	0.027000	0.13621	1.368000	0.46115	0.655000	0.94253	GCT	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385981.1		-	ENST00000332601.3	Missense_Mutation	SNP	11 : 6816882 - 6816882 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	428	72
ABCC6	368	broad.mit.edu	37	16	16251606	16251606	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:16251606C>T	ENST00000205557.7	-	27	3825	c.3796G>A	c.(3796-3798)Gag>Aag	p.E1266K		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1266	ABC transporter 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TCCCGGAACTCGATCTGCCCG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	42	44			NA	NA	16		NA											NA				16251606		2197	4300	6497	SO:0001583	missense			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262	368	368		ATP binding cassette transporters / subfamily C	57	protein-coding gene	gene with protein product		603234	pseudoxanthoma elasticum	ARA, PXE	NA	9721217, 11439001	Standard		NM_001079528	NA	Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.3796G>A	16.37:g.16251606C>T	ENSP00000205557:p.Glu1266Lys	NA	P78420|Q9UMZ7	37	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	c	20.8	4.056895	0.76074	.	.	ENSG00000091262	ENST00000205557;ENST00000205558	D	0.90955	-2.76	5.09	4.13	0.48395	ABC transporter-like (1);	0.000000	0.47852	U	0.000214	D	0.86079	0.5847	L	0.45352	1.415	0.80722	D	1	D	0.55385	0.971	B	0.39258	0.295	D	0.86918	0.2065	10	0.87932	D	0	.	14.3582	0.66752	0.1485:0.8515:0.0:0.0	.	1266	O95255	MRP6_HUMAN	K	1266;204	ENSP00000205557:E1266K	ENSP00000205557:E1266K	E	-	1	0	ABCC6	16159107	0.399000	0.25287	0.836000	0.33094	0.891000	0.51852	1.188000	0.32102	1.151000	0.42436	0.530000	0.56133	GAG	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252232.2		-	ENST00000205557.7	Missense_Mutation	SNP	16 : 16251606 - 16251606 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	59
CSRNP1	64651	broad.mit.edu	37	3	39186588	39186588	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39186588C>T	ENST00000273153.5	-	3	542	c.365G>A	c.(364-366)cGc>cAc	p.R122H	CSRNP1_ENST00000514182.1_Missense_Mutation_p.R122H	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	122					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CAAAGAGAAGCGACGGCAAGC	0.607		NA											C	2	9e-04	NA	NA	2184	0.0035	1	,	,	NA	2e-04	NA	NA	NA	9e-04	1	EXOME	NA	NA	0.0044	SNP								NA				0													71	62	65			NA	NA	3		NA											NA				39186588		2203	4300	6503	SO:0001583	missense			AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655	64651	64651			14300	protein-coding gene	gene with protein product		606458	AXIN1 up-regulated 1	AXUD1	NA	11526492, 17726538	Standard	NM_033027	NM_033027	NA	Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.365G>A	3.37:g.39186588C>T	ENSP00000273153:p.Arg122His	NA	Q69YY5	37	CCDS2682.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	8.953	0.968776	0.18659	.	.	ENSG00000144655	ENST00000273153;ENST00000514182	T;T	0.15834	2.39;2.39	5.14	-3.89	0.04193	.	0.872621	0.10310	N	0.690093	T	0.12092	0.0294	L	0.39245	1.2	0.22001	N	0.999423	B	0.21381	0.055	B	0.12156	0.007	T	0.25950	-1.0117	10	0.39692	T	0.17	-14.4598	9.0115	0.36144	0.1108:0.2384:0.0:0.6507	.	122	Q96S65	CSRN1_HUMAN	H	122	ENSP00000273153:R122H;ENSP00000422532:R122H	ENSP00000273153:R122H	R	-	2	0	CSRNP1	39161592	0.137000	0.22531	0.850000	0.33497	0.072000	0.16883	-0.260000	0.08708	-0.815000	0.04346	-0.993000	0.02533	CGC	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254061.1		-	ENST00000273153.5	Missense_Mutation	SNP	3 : 39186588 - 39186588 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	61
TRIM16	10626	broad.mit.edu	37	17	15532139	15532139	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15532139G>A	ENST00000578237.1	-	11	2340	c.1485C>T	c.(1483-1485)ctC>ctT	p.L495L	TRIM16_ENST00000579219.1_3'UTR|TRIM16_ENST00000336708.7_Silent_p.L495L|RP11-385D13.1_ENST00000455584.2_Intron|TRIM16_ENST00000416464.2_Silent_p.L365L|TRIM16_ENST00000577886.1_Silent_p.L279L					tripartite motif containing 16	NA										breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		TATAGACCCCGAGCCTCCGGA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	71	70			NA	NA	17		NA											NA				15532139		2203	4300	6503	SO:0001819	synonymous_variant			AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926	10626	10626		Tripartite motif containing / Tripartite motif containing	17241	protein-coding gene	gene with protein product	estrogen-responsive B box protein	609505	tripartite motif-containing 16		NA	11331580	Standard	NM_006470	NM_006470	NA	Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.1485C>T	17.37:g.15532139G>A		NA		37	CCDS11171.1																																																																																			TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130700.2		-	ENST00000578237.1	Silent	SNP	17 : 15532139 - 15532139 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	491	28
ATP8B3	148229	broad.mit.edu	37	19	1805955	1805955	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1805955G>A	ENST00000310127.6	-	9	991	c.753C>T	c.(751-753)gcC>gcT	p.A251A	ATP8B3_ENST00000525591.1_Silent_p.A198A|ATP8B3_ENST00000539485.1_Silent_p.A251A|ATP8B3_ENST00000526092.2_Silent_p.A198A	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	251					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGCATGTCGGCCTGGTGTG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	34	32			NA	NA	19		NA											NA				1805955		2065	4182	6247	SO:0001819	synonymous_variant			AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270	148229	148229		ATPases / P-type	13535	protein-coding gene	gene with protein product	aminophospholipid translocase ATP8B3, potential phospholipid-transporting ATPase IK	605866	ATPase, Class I, type 8B, member 3, ATPase, class I, type 8B, member 3		NA	11015572	Standard	NM_138813	NM_138813	NA	Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.753C>T	19.37:g.1805955G>A		NA	Q8IVB8|Q8N4Y8|Q96M22	37	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	g	0.596	-0.830887	0.02713	.	.	ENSG00000130270	ENST00000533993	.	.	.	3.75	-3.8	0.04307	.	.	.	.	.	T	0.38188	0.1031	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33059	-0.9883	4	.	.	.	.	1.676	0.02822	0.3007:0.1065:0.3783:0.2145	.	.	.	.	L	214	.	.	P	-	2	0	ATP8B3	1756955	0.000000	0.05858	0.869000	0.34112	0.153000	0.21895	-2.113000	0.01331	-0.804000	0.04410	-1.644000	0.00765	CCG	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388279.1		-	ENST00000310127.6	Silent	SNP	19 : 1805955 - 1805955 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	242	32
KIAA1462	57608	broad.mit.edu	37	10	30317872	30317872	+	Missense_Mutation	SNP	C	C	T	rs78646257	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30317872C>T	ENST00000375377.1	-	3	1306	c.1205G>A	c.(1204-1206)cGc>cAc	p.R402H		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	402	Pro-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTGAGGCAAGCGGGGGCTCAC	0.587		NA											C	5	0.0023	NA	NA	2184	0.01	0.9991	,	,	NA	3e-04	NA	NA	NA	0.0024	0.8387	LOWCOV,EXOME	NA	NA	0.001	SNP								NA				0								C	HIS/ARG	2,3896		0,2,1947	62	68	66		1205	-1.1	0	10	dbSNP_131	66	13,8253		0,13,4120	yes	missense	KIAA1462	NM_020848.2	29	0,15,6067	TT,TC,CC	NA	0.1573,0.0513,0.1233	benign	402/1360	30317872	15,12149	1949	4133	6082	SO:0001583	missense			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757	57608	57608			29283	protein-coding gene	gene with protein product	junctional protein associated with coronary artery disease	614398			NA	10819331, 21884682	Standard	NM_020848	NM_020848	NA	Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.1205G>A	10.37:g.30317872C>T	ENSP00000364526:p.Arg402His	NA	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	37	CCDS41500.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	C	9.565	1.119386	0.20877	5.13E-4	0.001573	ENSG00000165757	ENST00000375377	T	0.12039	2.72	5.28	-1.06	0.10002	.	1.047670	0.07427	N	0.895065	T	0.06462	0.0166	L	0.41236	1.265	0.09310	N	1	B	0.15141	0.012	B	0.08055	0.003	T	0.42965	-0.9420	10	0.13853	T	0.58	-0.674	4.8785	0.13668	0.1576:0.29:0.0:0.5523	.	402	Q9P266	K1462_HUMAN	H	402	ENSP00000364526:R402H	ENSP00000364526:R402H	R	-	2	0	KIAA1462	30357878	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.357000	0.07651	-0.251000	0.09542	0.561000	0.74099	CGC	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047409.1		-	ENST00000375377.1	Missense_Mutation	SNP	10 : 30317872 - 30317872 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	751	146
C10orf118	0	broad.mit.edu	37	10	115904338	115904338	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115904338T>G	ENST00000369287.3	-	6	1405	c.1139A>C	c.(1138-1140)aAa>aCa	p.K380T	C10orf118_ENST00000543782.1_5'UTR	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN		380										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TTCCTTTAATTTGTCTATTTC	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													196	181	186			NA	NA	10		NA											NA				115904338		2202	4299	6501	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000369287.3:c.1139A>C	10.37:g.115904338T>G	ENSP00000358293:p.Lys380Thr	NA	Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	37	CCDS7587.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.7|22.7	4.328828|4.328828	0.81690|0.81690	.|.	.|.	ENSG00000165813|ENSG00000165813	ENST00000369287;ENST00000430353|ENST00000428953	T|.	0.55760|.	0.5|.	5.42|5.42	4.28|4.28	0.50868|0.50868	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71584|0.71584	0.3357|0.3357	M|M	0.79258|0.79258	2.445|2.445	0.80722|0.80722	D|D	1|1	D|.	0.67145|.	0.996|.	P|.	0.61592|.	0.891|.	T|T	0.70806|0.70806	-0.4772|-0.4772	10|5	0.48119|.	T|.	0.1|.	.|.	9.785|9.785	0.40670|0.40670	0.0:0.0784:0.0:0.9216|0.0:0.0784:0.0:0.9216	.|.	380|.	Q7Z3E2|.	CJ118_HUMAN|.	T|H	380;486|8	ENSP00000358293:K380T|.	ENSP00000358293:K380T|.	K|Q	-|-	2|3	0|2	C10orf118|C10orf118	115894328|115894328	1.000000|1.000000	0.71417|0.71417	0.917000|0.917000	0.36280|0.36280	0.989000|0.989000	0.77384|0.77384	4.946000|4.946000	0.63576|0.63576	0.900000|0.900000	0.36469|0.36469	0.456000|0.456000	0.33151|0.33151	AAA|CAA	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050455.1		-	ENST00000369287.3	Missense_Mutation	SNP	10 : 115904338 - 115904338 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	364	38
ALPL	249	broad.mit.edu	37	1	21890669	21890669	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21890669A>G	ENST00000374840.3	+	6	858	c.608A>G	c.(607-609)gAc>gGc	p.D203G	ALPL_ENST00000425315.2_Missense_Mutation_p.D203G|ALPL_ENST00000374832.1_Missense_Mutation_p.D203G|ALPL_ENST00000539907.1_Missense_Mutation_p.D126G|ALPL_ENST00000540617.1_Missense_Mutation_p.D148G|ALPL_ENST00000468526.1_3'UTR	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	203					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	GGCTGTAAGGACATCGCCTAC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	75	78			NA	NA	1		NA											NA				21890669		2203	4300	6503	SO:0001583	missense			BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	249	249	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS	NA	3532105, 3446011	Standard	NM_000478	NM_001127501	NA	Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.608A>G	1.37:g.21890669A>G	ENSP00000363973:p.Asp203Gly	NA	A1A4E7|B2RMP8|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	37	CCDS217.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.958174	0.92726	.	.	ENSG00000162551	ENST00000539907;ENST00000540617;ENST00000374840;ENST00000374832;ENST00000425315	D;D;D;D;D	0.97529	-4.42;-4.42;-4.42;-4.42;-4.42	5.39	5.39	0.77823	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98604	0.9533	M	0.90759	3.145	0.80722	D	1	D;D;D	0.76494	0.999;0.988;0.988	D;D;D	0.83275	0.996;0.979;0.955	D	0.99659	1.0993	10	0.72032	D	0.01	-32.7123	14.2145	0.65783	1.0:0.0:0.0:0.0	.	126;151;203	B7Z387;B7Z1D1;P05186	.;.;PPBT_HUMAN	G	126;148;203;203;203	ENSP00000437674:D126G;ENSP00000442672:D148G;ENSP00000363973:D203G;ENSP00000363965:D203G;ENSP00000394765:D203G	ENSP00000363965:D203G	D	+	2	0	ALPL	21763256	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.841000	0.92131	2.038000	0.60285	0.459000	0.35465	GAC	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000008202.1		+	ENST00000374840.3	Missense_Mutation	SNP	1 : 21890669 - 21890669 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	288	9
CREB3L3	84699	broad.mit.edu	37	19	4153764	4153764	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4153764C>T	ENST00000078445.2	+	1	167	c.20C>T	c.(19-21)gCt>gTt	p.A7V	CREB3L3_ENST00000595923.1_Missense_Mutation_p.A7V|CREB3L3_ENST00000602147.1_Missense_Mutation_p.A7V|CREB3L3_ENST00000602257.1_Missense_Mutation_p.A7V|CREB3L3_ENST00000252587.3_5'UTR	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	7					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GATTTAGCTGCTGGAAAGGTG	0.612		NA											C	1	5e-04	0.002	NA	2184	NA	0.9999	,	,	NA	4e-04	NA	NA	NA	5e-04	0.9135	EXOME	NA	NA	0.0039	SNP								NA				0								C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	115	88	97		20	2.2	0	19		97	0,8600		0,0,4300	no	missense	CREB3L3	NM_032607.1	64	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	benign	7/462	4153764	1,13005	2203	4300	6503	SO:0001583	missense				CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566	84699	84699		basic leucine zipper proteins	18855	protein-coding gene	gene with protein product		611998			NA	11353085	Standard	NM_032607	NM_032607	NA	Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.20C>T	19.37:g.4153764C>T	ENSP00000078445:p.Ala7Val	NA	B2R7S6|Q6ZMC5|Q96TB9	37	CCDS12121.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.81	2.048461	0.36181	2.27E-4	0.0	ENSG00000060566	ENST00000078445;ENST00000381943	D	0.83591	-1.74	4.51	2.21	0.28008	.	1.054720	0.07391	N	0.889091	T	0.75781	0.3896	L	0.44542	1.39	0.21762	N	0.99955	B	0.17038	0.02	B	0.12156	0.007	T	0.58267	-0.7666	10	0.29301	T	0.29	-16.9793	6.8451	0.23984	0.0:0.7632:0.0:0.2368	.	7	Q68CJ9	CR3L3_HUMAN	V	7	ENSP00000078445:A7V	ENSP00000078445:A7V	A	+	2	0	CREB3L3	4104764	0.000000	0.05858	0.007000	0.13788	0.131000	0.20780	0.083000	0.14871	0.380000	0.24823	0.485000	0.47835	GCT	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457922.1		+	ENST00000078445.2	Missense_Mutation	SNP	19 : 4153764 - 4153764 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	206	26
RUSC1	23623	broad.mit.edu	37	1	155297964	155297964	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155297964C>T	ENST00000368352.5	+	9	2589	c.2438C>T	c.(2437-2439)cCg>cTg	p.P813L	RUSC1_ENST00000368354.3_Missense_Mutation_p.P707L|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368347.4_Missense_Mutation_p.P403L|RUSC1_ENST00000292254.4_Missense_Mutation_p.P344L|RUSC1_ENST00000368349.4_Missense_Mutation_p.P344L	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	813						cytoplasm|nucleolus	SH3/SH2 adaptor activity	p.P344Q(2)|p.P707Q(2)|p.P403Q(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TGGCTGCCCCCGACAGTGAGT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				6	Substitution - Missense(6)	lung(3)|kidney(3)						C	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	0,4406		0,0,2203	153	158	156		2438,2120,1208,1031	5.2	1	1		156	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	RUSC1	NM_001105203.1,NM_001105204.1,NM_001105205.1,NM_014328.3	98,98,98,98	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	813/903,707/797,403/493,344/434	155297964	1,13005	2203	4300	6503	SO:0001583	missense			AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753	23623	23623			17153	protein-coding gene	gene with protein product					NA	10760598	Standard		NM_001105203	NA	Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.2438C>T	1.37:g.155297964C>T	ENSP00000357336:p.Pro813Leu	NA	Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	37	CCDS41410.1	.	.	.	.	.	.	.	.	.	.	C	5.720	0.317388	0.10845	0.0	1.16E-4	ENSG00000160753	ENST00000368354;ENST00000368352;ENST00000368347;ENST00000368349;ENST00000292254	T;T;T;T;T	0.29655	2.05;1.99;1.56;1.6;1.6	5.15	5.15	0.70609	.	0.000000	0.56097	D	0.000037	T	0.26304	0.0642	L	0.34521	1.04	0.80722	D	1	D;D;D;P;P;D	0.71674	0.997;0.998;0.992;0.937;0.46;0.984	P;P;P;B;B;B	0.60117	0.742;0.869;0.619;0.267;0.234;0.327	T	0.01071	-1.1461	10	0.17832	T	0.49	-16.3888	14.3078	0.66395	0.0:1.0:0.0:0.0	.	311;344;238;403;312;813	B4DQB8;Q9BVN2-2;B3KWM9;Q5T9V0;Q9BT86;Q9BVN2	.;.;.;.;.;RUSC1_HUMAN	L	707;813;403;344;344	ENSP00000357338:P707L;ENSP00000357336:P813L;ENSP00000357331:P403L;ENSP00000357333:P344L;ENSP00000292254:P344L	ENSP00000292254:P344L	P	+	2	0	RUSC1	153564588	0.916000	0.31088	0.991000	0.47740	0.524000	0.34500	3.985000	0.56930	2.837000	0.97791	0.591000	0.81541	CCG	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039071.1		+	ENST00000368352.5	Missense_Mutation	SNP	1 : 155297964 - 155297964 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1516	400
TSSC1	7260	broad.mit.edu	37	2	3261074	3261074	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:3261074C>A	ENST00000398659.4	-	5	633	c.493G>T	c.(493-495)Gcc>Tcc	p.A165S	TSSC1_ENST00000443925.2_Missense_Mutation_p.A138S|TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000382125.4_Missense_Mutation_p.A138S			Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	138							protein binding			breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		TCCTACCAGGCCATGTTGCCA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(140;1261 1762 4183 34270 49743)							NA				0													89	80	83			NA	NA	2		NA											NA				3261074		2203	4300	6503	SO:0001583	missense			AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389	7260	7260		WD repeat domain containing	12383	protein-coding gene	gene with protein product		608998			NA	9403053, 9925925	Standard	NM_003310	NM_003310	NA	Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000398659.4:c.493G>T	2.37:g.3261074C>A	ENSP00000381652:p.Ala165Ser	NA	D6W4Y1|O43179|Q53S19|Q53SG2	37		.	.	.	.	.	.	.	.	.	.	C	14.12	2.441202	0.43326	.	.	ENSG00000032389	ENST00000382125;ENST00000398659;ENST00000443925	T;T;T	0.12774	2.65;2.65;2.65	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);	0.049431	0.85682	D	0.000000	T	0.10121	0.0248	L	0.28115	0.83	0.80722	D	1	B	0.28258	0.205	B	0.20955	0.032	T	0.09357	-1.0678	10	0.06891	T	0.86	.	18.6316	0.91361	0.0:1.0:0.0:0.0	.	138	Q53HC9	TSSC1_HUMAN	S	138;165;138	ENSP00000371559:A138S;ENSP00000381652:A165S;ENSP00000389080:A138S	ENSP00000371559:A138S	A	-	1	0	TSSC1	3240081	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	4.634000	0.61325	2.626000	0.88956	0.650000	0.86243	GCC	TSSC1-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000322629.1		-	ENST00000398659.4	Missense_Mutation	SNP	2 : 3261074 - 3261074 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	303	58
LZTS3	0	broad.mit.edu	37	20	3146582	3146582	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3146582C>T	ENST00000329152.3	-	2	2281	c.884G>A	c.(883-885)gGc>gAc	p.G295D	LZTS3_ENST00000360342.3_Missense_Mutation_p.G295D|LZTS3_ENST00000337576.5_Missense_Mutation_p.G295D						NA											NA						GCCCAGGTGGCCTGGCCGCCC	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	23	23			NA	NA	20		NA											NA				3146582		2182	4238	6420	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000329152.3:c.884G>A	20.37:g.3146582C>T	ENSP00000332123:p.Gly295Asp	NA		37	CCDS13049.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781651	0.70222	.	.	ENSG00000088899	ENST00000329152;ENST00000360342;ENST00000337576	T;T;T	0.44881	0.91;1.45;1.45	5.46	4.42	0.53409	.	0.153278	0.31051	N	0.008350	T	0.22126	0.0533	N	0.24115	0.695	0.33561	D	0.59738	B;B	0.24426	0.103;0.063	B;B	0.25291	0.059;0.012	T	0.23048	-1.0199	10	0.12103	T	0.63	-17.3486	3.529	0.07770	0.0:0.6414:0.0:0.3585	.	295;295	O60299-2;O60299	.;PRIP1_HUMAN	D	295	ENSP00000332123:G295D;ENSP00000353496:G295D;ENSP00000338166:G295D	ENSP00000332123:G295D	G	-	2	0	RP5-1187M17.10	3094582	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	4.540000	0.60664	2.556000	0.86216	0.561000	0.74099	GGC	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077715.2		-	ENST00000329152.3	Missense_Mutation	SNP	20 : 3146582 - 3146582 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	316	54
SLA	6503	broad.mit.edu	37	8	134060123	134060123	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:134060123C>T	ENST00000517648.1	-	5	403	c.355G>A	c.(355-357)Gac>Aac	p.D119N	TG_ENST00000377869.1_Intron|SLA_ENST00000338087.5_Missense_Mutation_p.D102N|TG_ENST00000542445.1_Intron|SLA_ENST00000395352.3_Missense_Mutation_p.D119N|SLA_ENST00000524345.1_5'UTR|SLA_ENST00000427060.2_Missense_Mutation_p.D142N|TG_ENST00000519543.1_Intron|TG_ENST00000220616.4_Intron			Q13239	SLAP1_HUMAN	Src-like-adaptor	102	SH2.					endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			ACCTTTGTGTCTGGCAGCTGC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	66	66			NA	NA	8		NA											NA				134060123		2203	4300	6503	SO:0001583	missense				CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926	6503	6503		SH2 domain containing	10902	protein-coding gene	gene with protein product		601099	Src-like-adapter		NA	8825655, 11179692	Standard		NM_001045556	NA	Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439	ENST00000517648.1:c.355G>A	8.37:g.134060123C>T	ENSP00000428559:p.Asp119Asn	NA	Q9UMQ8	37		.	.	.	.	.	.	.	.	.	.	C	15.42	2.828569	0.50845	.	.	ENSG00000155926	ENST00000338087;ENST00000427060;ENST00000395352;ENST00000517648;ENST00000522119	T;T;T;D;D	0.92348	1.57;1.57;1.57;-3.02;-3.02	5.6	5.6	0.85130	SH2 motif (4);	0.181413	0.64402	D	0.000017	T	0.82226	0.4991	N	0.02865	-0.47	0.51233	D	0.99991	B;B;B;B;B	0.18461	0.028;0.004;0.004;0.0;0.004	B;B;B;B;B	0.19391	0.025;0.01;0.01;0.002;0.01	T	0.76926	-0.2778	10	0.25751	T	0.34	-43.0063	17.4647	0.87629	0.0:1.0:0.0:0.0	.	119;102;102;102;102	B7Z4J2;Q6FI01;Q5TZW1;E5RJ69;Q13239	.;.;.;.;SLAP1_HUMAN	N	102;142;119;119;102	ENSP00000337548:D102N;ENSP00000394049:D142N;ENSP00000378759:D119N;ENSP00000428559:D119N;ENSP00000430596:D102N	ENSP00000337548:D102N	D	-	1	0	SLA	134129305	0.922000	0.31269	1.000000	0.80357	0.994000	0.84299	1.859000	0.39418	2.793000	0.96121	0.563000	0.77884	GAC	SLA-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000378776.1		-	ENST00000517648.1	Missense_Mutation	SNP	8 : 134060123 - 134060123 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	42
CEBPZ	10153	broad.mit.edu	37	2	37454709	37454709	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37454709G>A	ENST00000234170.5	-	2	1772	c.1627C>T	c.(1627-1629)Cga>Tga	p.R543*		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	543					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)				GTGTAATATCGATCCGATATT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	114	113			NA	NA	2		NA											NA				37454709		2203	4300	6503	SO:0001587	stop_gained			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.1627C>T	2.37:g.37454709G>A	ENSP00000234170:p.Arg543*	NA	Q8NE75	37	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	G	39	7.375508	0.98245	.	.	ENSG00000115816	ENST00000234170;ENST00000545744	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7983	0.63184	0.0:0.0:0.7444:0.2555	.	.	.	.	X	543	.	ENSP00000234170:R543X	R	-	1	2	CEBPZ	37308213	1.000000	0.71417	0.993000	0.49108	0.956000	0.61745	5.836000	0.69375	2.694000	0.91930	0.585000	0.79938	CGA	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000218569.2		-	ENST00000234170.5	Nonsense_Mutation	SNP	2 : 37454709 - 37454709 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	814	214
CLMP	79827	broad.mit.edu	37	11	122944425	122944425	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122944425G>A	ENST00000530371.1	-	0	352				CLMP_ENST00000448775.2_Silent_p.G293G			Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	NA						integral to membrane|tight junction				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						AGCTCCGAGAGCCTGAGGAAG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	102	102			NA	NA	11		NA											NA				122944425		2202	4299	6501	SO:0001623	5_prime_UTR_variant			BC009371	CCDS8441.1	11q24	2013-01-29			ENSG00000166250	ENSG00000166250	79827	79827		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	24039	protein-coding gene	gene with protein product	adipocyte-specific adhesion molecule, coxsackie- and adenovirus receptor-like membrane protein, adipocyte adhesion molecule	611693			NA	12851705, 14573622	Standard	NM_024769	NM_024769	NA	Approved	ASAM, FLJ22415, ACAM	uc001pyt.3	Q9H6B4		ENST00000530371.1:c.-233C>T	11.37:g.122944425G>A		NA		37																																																																																				CLMP-004	KNOWN	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000387544.1		-	ENST00000530371.1	5'UTR	SNP	11 : 122944425 - 122944425 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	644	135
CSTF3	1479	broad.mit.edu	37	11	33123884	33123884	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33123884T>G	ENST00000323959.4	-	10	804	c.665A>C	c.(664-666)gAa>gCa	p.E222A	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	222					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						TGTCTCATATTCCTAGACAAC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	69	71			NA	NA	11		NA											NA				33123884		2202	4298	6500	SO:0001630	splice_region_variant			U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102	1479	1479			2485	protein-coding gene	gene with protein product		600367	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD		NA	7984242	Standard	NM_001326	XM_006718154	NA	Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.664-1A>C	11.37:g.33123884T>G		NA	A8K471|D3DR04|Q32P22|Q96FQ8|Q96QD6	37	CCDS7883.1	.	.	.	.	.	.	.	.	.	.	T	19.19	3.779812	0.70222	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	T	0.36878	1.23	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.38585	0.1046	L	0.56199	1.76	0.80722	D	1	B	0.20780	0.048	B	0.26202	0.067	T	0.13255	-1.0516	10	0.40728	T	0.16	.	16.1082	0.81241	0.0:0.0:0.0:1.0	.	222	Q12996	CSTF3_HUMAN	A	222;155	ENSP00000315791:E222A	ENSP00000315791:E222A	E	-	2	0	CSTF3	33080460	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.035000	0.88872	2.205000	0.71048	0.482000	0.46254	GAA	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388801.1	Missense_Mutation	-	ENST00000323959.4	Splice_Site	SNP	11 : 33123884 - 33123884 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	269	70
FBXW11	23291	broad.mit.edu	37	5	171305026	171305026	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171305026A>G	ENST00000296933.6	-	7	1228	c.858T>C	c.(856-858)gaT>gaC	p.D286D	FBXW11_ENST00000425623.2_Silent_p.D267D|FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000265094.5_Silent_p.D299D|FBXW11_ENST00000393802.2_Silent_p.D265D	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	299					cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCACCGTAGAATCTGAAGAGC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	96	101			NA	NA	5		NA											NA				171305026		2203	4300	6503	SO:0001819	synonymous_variant			AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803	23291	23291		F-boxes / WD-40 domains, WD repeat domain containing	13607	protein-coding gene	gene with protein product		605651	F-box and WD-40 domain protein 1B, F-box and WD-40 domain protein 11	FBXW1B	NA	10531035, 10694485	Standard	NM_012300	NM_033644	NA	Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000296933.6:c.858T>C	5.37:g.171305026A>G		NA	B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	37	CCDS47341.1																																																																																			FBXW11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372381.1		-	ENST00000296933.6	Silent	SNP	5 : 171305026 - 171305026 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	291	72
INPP5A	3632	broad.mit.edu	37	10	134563063	134563063	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134563063G>A	ENST00000368594.3	+	10	1052	c.775G>A	c.(775-777)Gac>Aac	p.D259N	INPP5A_ENST00000368593.3_Missense_Mutation_p.D259N	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	259					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		CCGGGCCGCCGACACCAATGA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(63;823 1267 11107 20380 51626)							NA				0													72	64	67			NA	NA	10		NA											NA				134563063		2203	4300	6503	SO:0001583	missense			X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3632	3632	3.1.3.56		6076	protein-coding gene	gene with protein product	CTCL tumor antigen HD-CL-02, 43 kDa inositol polyphosphate 5-phophatase, inositol polyphosphate 5-phophatase, 40kDa, InsP3 5-phosphatase, type I inositol-1,4,5-trisphosphate 5-phosphatase	600106	inositol polyphosphate-5-phosphatase, 40kD		NA	8013665	Standard	NM_005539	NM_005539	NA	Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.775G>A	10.37:g.134563063G>A	ENSP00000357583:p.Asp259Asn	NA	D3DXI3|Q14640|Q5JSF1	37	CCDS7669.2	.	.	.	.	.	.	.	.	.	.	G	9.677	1.148323	0.21288	.	.	ENSG00000068383	ENST00000368594;ENST00000368593;ENST00000432898	T;T	0.50277	0.75;0.75	5.1	5.1	0.69264	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.252635	0.45361	D	0.000366	T	0.50360	0.1611	N	0.26130	0.795	0.58432	D	0.999998	D;D	0.67145	0.98;0.996	P;P	0.57846	0.733;0.828	T	0.33828	-0.9853	10	0.15066	T	0.55	-37.3962	18.9259	0.92544	0.0:0.0:1.0:0.0	.	259;259	Q14642;Q5T1B5	I5P1_HUMAN;.	N	259;259;176	ENSP00000357583:D259N;ENSP00000357582:D259N	ENSP00000357582:D259N	D	+	1	0	INPP5A	134413053	1.000000	0.71417	0.995000	0.50966	0.101000	0.19017	6.871000	0.75531	2.547000	0.85894	0.655000	0.94253	GAC	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051085.1		+	ENST00000368594.3	Missense_Mutation	SNP	10 : 134563063 - 134563063 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	444	64
PCDHB2	56133	broad.mit.edu	37	5	140475112	140475112	+	Silent	SNP	G	G	A	rs149000816	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140475112G>A	ENST00000194155.4	+	1	886	c.738G>A	c.(736-738)aaG>aaA	p.K246K		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	246					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTTTGCAAAGCTGCTCTATG	0.552		NA											G	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	LOWCOV,EXOME	NA	NA	0.0029	SNP								NA				0								G		13,4393	20.2+/-43.8	0,13,2190	57	59	58		738	0.4	0.5	5	dbSNP_134	58	0,8600		0,0,4300	no	coding-synonymous	PCDHB2	NM_018936.2		0,13,6490	AA,AG,GG	NA	0.0,0.2951,0.1		246/799	140475112	13,12993	2203	4300	6503	SO:0001819	synonymous_variant			AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852	56133	56133		Cadherins / Protocadherins : Clustered	8687	other	protocadherin		606328			NA	10380929	Standard	NM_018936	NM_018936	NA	Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.738G>A	5.37:g.140475112G>A		NA	Q4KMU1	37	CCDS4244.1																																																																																			PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251801.2		+	ENST00000194155.4	Silent	SNP	5 : 140475112 - 140475112 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	316	47
ARFGAP1	55738	broad.mit.edu	37	20	61912699	61912699	+	Splice_Site	SNP	C	C	T	rs6122111		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61912699C>T	ENST00000370275.4	+	8	776	c.684C>T	c.(682-684)ggC>ggT	p.G228G	ARFGAP1_ENST00000353546.3_Splice_Site_p.G228G|ARFGAP1_ENST00000547204.1_Splice_Site_p.G154G|ARFGAP1_ENST00000519604.1_Splice_Site_p.G175G|ARFGAP1_ENST00000519273.2_Splice_Site_p.G115G|ARFGAP1_ENST00000370283.4_Splice_Site_p.G228G	NM_001281482.1	NP_001268411.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	228					COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					CCAAGGAGGGCGTAAGTCACT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	20	22			NA	NA	20		NA											NA				61912699		2195	4286	6481	SO:0001630	splice_region_variant			AK001629	CCDS13515.1, CCDS13516.1, CCDS63326.1, CCDS63327.1, CCDS63328.1	20q13.33	2009-11-30	2002-08-20	2002-08-23	ENSG00000101199	ENSG00000101199	55738	55738		ADP-ribosylation factor GTPase activating proteins	15852	protein-coding gene	gene with protein product		608377	ADP-ribosylation factor 1 GTPase activating protein	ARF1GAP	NA	11210549	Standard	NM_018209	NM_018209	NA	Approved	FLJ10767, bA261N11.3	uc002yel.3	Q8N6T3	OTTHUMG00000032965	ENST00000370275.4:c.684+1C>T	20.37:g.61912699C>T		NA	B7ZBI3|E1P5I9|Q6PK71|Q96KC4|Q96T02|Q9NSU3|Q9NVF6|Q9UIL0	37																																																																																				ARFGAP1-004	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000316915.2	Silent	+	ENST00000370275.4	Splice_Site	SNP	20 : 61912699 - 61912699 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	65	12
KIAA0408	9729	broad.mit.edu	37	6	127765336	127765336	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127765336C>A	ENST00000483725.3	-	6	2339	c.2003G>T	c.(2002-2004)aGa>aTa	p.R668I	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	668							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		AGATGGAGATCTGGATGCCCA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	106	115			NA	NA	6		NA											NA				127765336		2203	4300	6503	SO:0001583	missense			AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367	9729	9729			21636	protein-coding gene	gene with protein product					NA		Standard	NM_014702	NM_014702	NA	Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.2003G>T	6.37:g.127765336C>A	ENSP00000435150:p.Arg668Ile	NA	B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	37	CCDS34531.1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999775	0.93227	.	.	ENSG00000189367	ENST00000483725	T	0.22336	1.96	6.07	6.07	0.98685	.	0.000000	0.39341	U	0.001396	T	0.41213	0.1149	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.13791	-1.0496	10	0.87932	D	0	-8.9135	20.6525	0.99598	0.0:1.0:0.0:0.0	.	668;551	Q6ZU52;Q6ZU52-2	K0408_HUMAN;.	I	668	ENSP00000435150:R668I	ENSP00000435150:R668I	R	-	2	0	KIAA0408	127807029	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	6.269000	0.72558	2.890000	0.99128	0.585000	0.79938	AGA	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042145.3		-	ENST00000483725.3	Missense_Mutation	SNP	6 : 127765336 - 127765336 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	258	51
PRDM13	59336	broad.mit.edu	37	6	100055036	100055036	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:100055036G>A	ENST00000369215.4	+	1	431	c.126G>A	c.(124-126)gaG>gaA	p.E42E		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	42	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		ACCGCAGGGAGCCCGGGCCTA	0.622		NA											G	1	5e-04	NA	NA	2184	NA	0.9984	,	,	NA	3e-04	0.0013	NA	NA	0.0013	0.5106	EXOME	NA	NA	3e-04	SNP								NA				0													47	56	53			NA	NA	6		NA											NA				100055036		2019	4188	6207	SO:0001819	synonymous_variant			AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238	59336	59336			13998	protein-coding gene	gene with protein product					NA		Standard		NM_021620	NA	Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.126G>A	6.37:g.100055036G>A		NA	Q5TGC1|Q5TGC2	37	CCDS43487.1																																																																																			PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041619.2		+	ENST00000369215.4	Silent	SNP	6 : 100055036 - 100055036 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	490	75
SMARCAL1	50485	broad.mit.edu	37	2	217315692	217315692	+	Missense_Mutation	SNP	C	C	T	rs148893764		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217315692C>T	ENST00000357276.4	+	12	2305	c.1975C>T	c.(1975-1977)Cgc>Tgc	p.R659C	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.R659C	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	659					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		TGCCAAGCAGCGCAAGATAGT	0.587		NA							Schimke Immuno-Osseous Dysplasia					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	61	61	61		1975,1975	5.5	1	2	dbSNP_134	61	0,8600		0,0,4300	no	missense,missense	SMARCAL1	NM_001127207.1,NM_014140.3	180,180	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging	659/955,659/955	217315692	1,13005	2203	4300	6503	SO:0001583	missense	Familial Cancer Database	SIOD	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375	50485	50485			11102	protein-coding gene	gene with protein product	HepA-related protein, ATP-driven annealing helicase	606622			NA	10713074, 10857751, 18974355	Standard		NM_014140	NA	Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.1975C>T	2.37:g.217315692C>T	ENSP00000349823:p.Arg659Cys	NA	A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	37	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	C	32	5.126659	0.94429	2.27E-4	0.0	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000392128	D;D;T	0.92858	-3.12;-3.12;-0.99	5.47	5.47	0.80525	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.97120	0.9059	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97898	1.0301	10	0.87932	D	0	-5.1217	18.3269	0.90258	0.0:1.0:0.0:0.0	.	659	Q9NZC9	SMAL1_HUMAN	C	659;659;501	ENSP00000349823:R659C;ENSP00000350940:R659C;ENSP00000375974:R501C	ENSP00000349823:R659C	R	+	1	0	SMARCAL1	217023937	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.897000	0.69831	2.559000	0.86315	0.650000	0.86243	CGC	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256671.2		+	ENST00000357276.4	Missense_Mutation	SNP	2 : 217315692 - 217315692 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	375	93
KRT2	3849	broad.mit.edu	37	12	53040535	53040535	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53040535G>A	ENST00000309680.3	-	7	1479	c.1458C>T	c.(1456-1458)ggC>ggT	p.G486G		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	486	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TGCACTCCTCGCCCTCCAGCA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	77	79			NA	NA	12		NA											NA				53040535		2203	4300	6503	SO:0001819	synonymous_variant				CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867	3849	3849		-, Intermediate filaments type II, keratins (basic)	6439	protein-coding gene	gene with protein product	epidermal ichthyosis bullosa of Siemens	600194	keratin 2A (epidermal ichthyosis bullosa of Siemens)	KRT2A	NA	7524919, 16831889	Standard	NM_000423	NM_000423	NA	Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.1458C>T	12.37:g.53040535G>A		NA	Q4VAQ2	37	CCDS8835.1																																																																																			KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405704.1		-	ENST00000309680.3	Silent	SNP	12 : 53040535 - 53040535 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	555	44
REV3L	5980	broad.mit.edu	37	6	111695078	111695078	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111695078T>A	ENST00000358835.3	-	14	4934	c.4480A>T	c.(4480-4482)Agg>Tgg	p.R1494W	REV3L_ENST00000368805.1_Missense_Mutation_p.R1494W|REV3L_ENST00000368802.3_Missense_Mutation_p.R1494W|REV3L_ENST00000435970.1_Missense_Mutation_p.R1416W			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1494					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GATAACGACCTCGGTTTTACT	0.378		NA						DNA polymerases (catalytic subunits)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	126	128			NA	NA	6		NA											NA				111695078		2203	4300	6503	SO:0001583	missense			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413	5980	5980		DNA polymerases	9968	protein-coding gene	gene with protein product	polymerase, DNA, zeta	602776	REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta, REV3-like, catalytic subunit of DNA polymerase zeta (yeast)		NA	9618506, 9925914	Standard	NM_002912	NM_001286431	NA	Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.4480A>T	6.37:g.111695078T>A	ENSP00000351697:p.Arg1494Trp	NA	O43214|Q5TC33	37	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	T	12.97	2.096552	0.36952	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01887	4.67;4.67;4.67;4.58	6.04	3.7	0.42460	Ribonuclease H-like (1);	0.279477	0.30201	N	0.010167	T	0.01523	0.0049	L	0.40543	1.245	0.09310	N	1	P	0.51791	0.948	P	0.46362	0.514	T	0.41324	-0.9515	10	0.87932	D	0	-5.225	14.0764	0.64893	0.0:0.0:0.2772:0.7228	.	1494	O60673	DPOLZ_HUMAN	W	1494;1494;1494;1416	ENSP00000357792:R1494W;ENSP00000357795:R1494W;ENSP00000351697:R1494W;ENSP00000402003:R1416W	ENSP00000351697:R1494W	R	-	1	2	REV3L	111801771	0.014000	0.17966	0.730000	0.30809	0.690000	0.40134	1.863000	0.39459	1.065000	0.40693	0.460000	0.39030	AGG	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043695.1		-	ENST00000358835.3	Missense_Mutation	SNP	6 : 111695078 - 111695078 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	802	144
PKP2	5318	broad.mit.edu	37	12	33003785	33003785	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:33003785C>A	ENST00000340811.4	-	5	1401	c.1293G>T	c.(1291-1293)ttG>ttT	p.L431F	PKP2_ENST00000070846.6_Missense_Mutation_p.L431F	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	431					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CAGCCACCTCCAATTTGTTGT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	127	127			NA	NA	12		NA											NA				33003785		2203	4300	6503	SO:0001583	missense			X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294	5318	5318		Armadillo repeat containing	9024	protein-coding gene	gene with protein product		602861			NA	8922383	Standard	NM_004572	NM_001005242	NA	Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000340811.4:c.1293G>T	12.37:g.33003785C>A	ENSP00000342800:p.Leu431Phe	NA	D3DUW9|Q4VC01|Q99960	37	CCDS31771.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.809063	0.70797	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	T;T	0.69685	-0.42;0.75	4.7	4.7	0.59300	Armadillo-like helical (1);Armadillo-type fold (1);	0.204716	0.42682	D	0.000676	T	0.78916	0.4359	M	0.70595	2.14	0.58432	D	0.999999	D;D;D	0.71674	0.997;0.998;0.995	D;D;P	0.68483	0.929;0.958;0.894	T	0.80867	-0.1190	10	0.62326	D	0.03	-6.8743	13.0312	0.58842	0.1612:0.8388:0.0:0.0	.	431;431;431	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	F	431	ENSP00000342800:L431F;ENSP00000070846:L431F	ENSP00000070846:L431F	L	-	3	2	PKP2	32895052	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.556000	0.45862	2.319000	0.78375	0.462000	0.41574	TTG	PKP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404448.2		-	ENST00000340811.4	Missense_Mutation	SNP	12 : 33003785 - 33003785 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	531	109
TMEM201	199953	broad.mit.edu	37	1	9661466	9661466	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9661466G>A	ENST00000340305.5	+	5	919	c.910G>A	c.(910-912)Ggc>Agc	p.G304S	TMEM201_ENST00000377376.4_Missense_Mutation_p.G304S|TMEM201_ENST00000340381.6_Missense_Mutation_p.G304S	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN	transmembrane protein 201	304						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		CGTGGCACTGGGCCTACTCAC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	41	40			NA	NA	1		NA											NA				9661466		2203	4297	6500	SO:0001583	missense				CCDS30579.1, CCDS44055.1, CCDS44055.2	1p36.22	2009-11-06			ENSG00000188807	ENSG00000188807	199953	199953			33719	protein-coding gene	gene with protein product					NA		Standard	NM_001010866	NM_001130924	NA	Approved	RP13-15M17.2, NET5	uc021ofy.1	Q5SNT2	OTTHUMG00000057457	ENST00000340305.5:c.910G>A	1.37:g.9661466G>A	ENSP00000344772:p.Gly304Ser	NA	B9EH90|Q5SNT3	37	CCDS30579.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.031350|4.031350	0.75504|0.75504	.|.	.|.	ENSG00000188807|ENSG00000188807	ENST00000416541|ENST00000377376;ENST00000340305;ENST00000340381	.|.	.|.	.|.	4.68|4.68	4.68|4.68	0.58851|0.58851	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.67002|0.67002	0.2847|0.2847	L|L	0.36672|0.36672	1.1|1.1	0.53688|0.53688	D|D	0.999974|0.999974	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	T|T	0.70432|0.70432	-0.4873|-0.4873	6|9	.|0.72032	.|D	.|0.01	-37.3398|-37.3398	14.3284|14.3284	0.66534|0.66534	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|304;304	.|E9PBR6;Q5SNT2-2	.|.;.	E|S	213|304	.|.	.|ENSP00000344772:G304S	G|G	+|+	2|1	0|0	TMEM201|TMEM201	9584053|9584053	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.379000|0.379000	0.30106|0.30106	6.604000|6.604000	0.74150|0.74150	2.160000|2.160000	0.67779|0.67779	0.563000|0.563000	0.77884|0.77884	GGG|GGC	TMEM201-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000127673.2		+	ENST00000340305.5	Missense_Mutation	SNP	1 : 9661466 - 9661466 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	419	18
ADAM21	8747	broad.mit.edu	37	14	70924986	70924986	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70924986G>A	ENST00000603540.1	+	2	1028	c.770G>A	c.(769-771)gGa>gAa	p.G257E	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.G257E	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	257	Peptidase M12B.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ATTTTGATTGGAATTGAAATT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	63	61			NA	NA	14		NA											NA				70924986		2203	4300	6503	SO:0001583	missense			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985	8747	8747		ADAM metallopeptidase domain containing	200	protein-coding gene	gene with protein product		603713	a disintegrin and metalloproteinase domain 21		NA	9469942	Standard		NM_003813	NA	Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.770G>A	14.37:g.70924986G>A	ENSP00000474385:p.Gly257Glu	NA	O43507|Q2VPC6|Q32MR0	37	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	G	9.054	0.992807	0.18966	.	.	ENSG00000139985	ENST00000267499	T	0.11385	2.78	3.86	0.557	0.17260	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.44902	D	0.000420	T	0.34279	0.0892	M	0.91406	3.205	0.09310	N	0.999999	D	0.71674	0.998	D	0.79784	0.993	T	0.07501	-1.0769	10	0.87932	D	0	.	8.2495	0.31708	0.0:0.1501:0.5415:0.3084	.	257	Q9UKJ8	ADA21_HUMAN	E	257	ENSP00000267499:G257E	ENSP00000267499:G257E	G	+	2	0	ADAM21	69994739	0.419000	0.25449	0.985000	0.45067	0.259000	0.26198	0.817000	0.27281	0.365000	0.24400	-0.321000	0.08615	GGA	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413008.3		+	ENST00000603540.1	Missense_Mutation	SNP	14 : 70924986 - 70924986 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	475	19
CSDE1	7812	broad.mit.edu	37	1	115275328	115275328	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115275328A>G	ENST00000530886.1	-	8	1144	c.557T>C	c.(556-558)gTt>gCt	p.V186A	CSDE1_ENST00000369530.1_Missense_Mutation_p.V331A|CSDE1_ENST00000358528.4_Missense_Mutation_p.V316A|CSDE1_ENST00000261443.5_Missense_Mutation_p.V285A|CSDE1_ENST00000339438.6_Missense_Mutation_p.V285A|CSDE1_ENST00000534699.1_Missense_Mutation_p.V316A|CSDE1_ENST00000438362.2_Missense_Mutation_p.V362A			O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	316	CSD 3.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTAAACCTAACATGGTCACC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													196	191	193			NA	NA	1		NA											NA				115275328		2203	4300	6503	SO:0001583	missense				CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307	7812	7812			29905	protein-coding gene	gene with protein product	upstream of NRAS	191510			NA	2204029, 10048485	Standard	NM_007158	NM_007158	NA	Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000530886.1:c.557T>C	1.37:g.115275328A>G	ENSP00000431297:p.Val186Ala	NA	A8K281|O94961|Q5TF04|Q5TF05|Q68DI9|Q9Y2S4	37		.	.	.	.	.	.	.	.	.	.	A	20.4	3.977568	0.74360	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	5.89	5.89	0.94794	.	0.114155	0.64402	D	0.000011	T	0.41743	0.1172	L	0.47190	1.495	0.58432	D	0.999999	B;B;P	0.35872	0.189;0.39;0.525	B;B;B	0.34722	0.024;0.092;0.188	T	0.52601	-0.8554	9	0.87932	D	0	-7.1035	16.2903	0.82747	1.0:0.0:0.0:0.0	.	331;316;362	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	A	285;362;316;285;186;331;316	.	ENSP00000261443:V285A	V	-	2	0	CSDE1	115076851	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.962000	0.93254	2.247000	0.74100	0.482000	0.46254	GTT	CSDE1-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000392607.1		-	ENST00000530886.1	Missense_Mutation	SNP	1 : 115275328 - 115275328 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	559	21
SERPINI2	5276	broad.mit.edu	37	3	167159914	167159914	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167159914C>A	ENST00000476257.1	-	10	1499	c.1201G>T	c.(1201-1203)Gat>Tat	p.D401Y	SERPINI2_ENST00000461846.1_Missense_Mutation_p.D401Y|SERPINI2_ENST00000471111.1_Missense_Mutation_p.D401Y|SERPINI2_ENST00000264677.4_Missense_Mutation_p.D401Y			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	401					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						GAATCTAAATCTCTTCCTTTT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	120	124			NA	NA	3		NA											NA				167159914		2203	4299	6502	SO:0001583	missense			AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204	5276	5276		Serine (or cysteine) peptidase inhibitors	8945	protein-coding gene	gene with protein product		605587	serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2, serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2	PI14	NA	9624529, 24172014	Standard	NM_006217	NM_006217	NA	Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.1201G>T	3.37:g.167159914C>A	ENSP00000420621:p.Asp401Tyr	NA		37	CCDS3200.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121718	0.77436	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	6.07	6.07	0.98685	.	0.102307	0.64402	D	0.000004	D	0.90648	0.7067	L	0.54323	1.7	0.45239	D	0.998244	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.90775	0.4675	10	0.87932	D	0	.	16.1594	0.81686	0.0:1.0:0.0:0.0	.	401;401	B4DDY9;O75830	.;SPI2_HUMAN	Y	401	ENSP00000420621:D401Y;ENSP00000417692:D401Y;ENSP00000264677:D401Y;ENSP00000419407:D401Y	ENSP00000264677:D401Y	D	-	1	0	SERPINI2	168642608	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.130000	0.57964	2.885000	0.99019	0.655000	0.94253	GAT	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350450.1		-	ENST00000476257.1	Missense_Mutation	SNP	3 : 167159914 - 167159914 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	133	13
ANKRD13D	338692	broad.mit.edu	37	11	67068443	67068443	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67068443C>A	ENST00000515828.1	+	1	197	c.6C>A	c.(4-6)tcC>tcA	p.S2S	ANKRD13D_ENST00000511455.2_Intron|ANKRD13D_ENST00000514166.1_Intron|ANKRD13D_ENST00000308440.6_Intron|ANKRD13D_ENST00000447274.2_Intron			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	0										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CACCCATGTCCTGTGGTCGGC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	58	63			NA	NA	11		NA											NA				67068443		2200	4295	6495	SO:0001819	synonymous_variant			AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932	338692	338692		Ankyrin repeat domain containing	27880	protein-coding gene	gene with protein product		615126			NA		Standard	NM_207354	NM_207354	NA	Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000515828.1:c.6C>A	11.37:g.67068443C>A		NA	Q0VAK0|Q6ZVD0|Q86SU1	37																																																																																				ANKRD13D-008	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000371074.2		+	ENST00000515828.1	Silent	SNP	11 : 67068443 - 67068443 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	171	36
D2HGDH	728294	broad.mit.edu	37	2	242695421	242695421	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242695421G>A	ENST00000321264.4	+	9	1507	c.1298G>A	c.(1297-1299)gGc>gAc	p.G433D	D2HGDH_ENST00000486953.1_3'UTR|D2HGDH_ENST00000403782.1_Missense_Mutation_p.G299D	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	433					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GTGGGCTATGGCCACCTTGGT	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	37	38			NA	NA	2		NA											NA				242695421		2202	4294	6496	SO:0001583	missense			AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	728294	728294	1.1.99.-		28358	protein-coding gene	gene with protein product		609186			NA	15070399, 15609246	Standard	NM_152783	NM_152783	NA	Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.1298G>A	2.37:g.242695421G>A	ENSP00000315351:p.Gly433Asp	NA	Q6IQ24|Q8N5Q8	37	CCDS33426.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	24.8|24.8|24.8	4.572822|4.572822|4.572822	0.86542|0.86542|0.86542	.|.|.	.|.|.	ENSG00000180902|ENSG00000180902|ENSG00000180902	ENST00000445308|ENST00000321264;ENST00000403782;ENST00000542211|ENST00000432449	.|D;D|.	.|0.86694|.	.|-2.16;-2.16|.	5.31|5.31|5.31	5.31|5.31|5.31	0.75309|0.75309|0.75309	.|FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);|.	.|0.125811|.	.|0.53938|.	.|D|.	.|0.000052|.	D|D|.	0.90345|0.90345|.	0.6979|0.6979|.	H|H|H	0.97732|0.97732|0.97732	4.065|4.065|4.065	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D|.	.|0.89917|.	.|1.0|.	.|D|.	.|0.97110|.	.|1.0|.	D|D|.	0.93703|0.93703|.	0.7017|0.7017|.	5|10|.	.|0.87932|.	.|D|.	.|0|.	0.004|0.004|0.004	18.9757|18.9757|18.9757	0.92735|0.92735|0.92735	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|433|.	.|Q8N465|.	.|D2HDH_HUMAN|.	T|D|X	232|433;299;53|186	.|ENSP00000315351:G433D;ENSP00000384723:G299D|.	.|ENSP00000315351:G433D|.	A|G|W	+|+|+	1|2|3	0|0|0	D2HGDH|D2HGDH|D2HGDH	242344094|242344094|242344094	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.464000|0.464000|0.464000	0.32679|0.32679|0.32679	8.597000|8.597000|8.597000	0.90847|0.90847|0.90847	2.485000|2.485000|2.485000	0.83878|0.83878|0.83878	0.467000|0.467000|0.467000	0.42956|0.42956|0.42956	GCC|GGC|TGG	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322794.2		+	ENST00000321264.4	Missense_Mutation	SNP	2 : 242695421 - 242695421 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	431	75
IRX2	153572	broad.mit.edu	37	5	2749615	2749615	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2749615G>A	ENST00000502957.1	-	0	483				IRX2_ENST00000382611.6_Missense_Mutation_p.T179I|IRX2_ENST00000302057.5_Missense_Mutation_p.T179I			Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	NA						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T179>I(1)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CGGGGCCCAGGTCATCTTGTT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Complex - compound substitution(1)	skin(1)											141	133	135			NA	NA	5		NA											NA				2749615		2203	4300	6503	SO:0001623	5_prime_UTR_variant			AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561	153572	153572		Homeoboxes / TALE class	14359	protein-coding gene	gene with protein product		606198			NA	11435706	Standard		NM_033267	NA	Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000502957.1:c.-362C>T	5.37:g.2749615G>A		NA	Q68A19|Q7Z2I7	37		.	.	.	.	.	.	.	.	.	.	G	29.7	5.026629	0.93518	.	.	ENSG00000170561	ENST00000382611;ENST00000302057;ENST00000502957	D;D;D	0.83591	-1.74;-1.74;-1.74	4.85	4.85	0.62838	Homeodomain-related (1);Homeobox (1);	0.000000	0.85682	D	0.000000	D	0.91229	0.7236	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92552	0.6051	10	0.87932	D	0	-29.3434	17.9697	0.89110	0.0:0.0:1.0:0.0	.	179	Q9BZI1	IRX2_HUMAN	I	179;179;86	ENSP00000372056:T179I;ENSP00000307006:T179I;ENSP00000426151:T86I	ENSP00000307006:T179I	T	-	2	0	IRX2	2802615	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	9.367000	0.97148	2.239000	0.73571	0.655000	0.94253	ACC	IRX2-003	KNOWN	mRNA_end_NF|basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000365963.2		-	ENST00000502957.1	5'UTR	SNP	5 : 2749615 - 2749615 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	475	108
KL	9365	broad.mit.edu	37	13	33635273	33635273	+	Missense_Mutation	SNP	C	C	T	rs141695559		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:33635273C>T	ENST00000380099.3	+	4	2065	c.2057C>T	c.(2056-2058)aCg>aTg	p.T686M	KL_ENST00000426690.2_3'UTR|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	686	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CTTTGGATAACGATGAATGAG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	MET/THR	0,4406		0,0,2203	66	59	61		2057	5.8	1	13	dbSNP_134	61	2,8598	2.2+/-6.3	0,2,4298	no	missense	KL	NM_004795.3	81	0,2,6501	TT,TC,CC	NA	0.0233,0.0,0.0154	probably-damaging	686/1013	33635273	2,13004	2203	4300	6503	SO:0001583	missense			AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116	9365	9365			6344	protein-coding gene	gene with protein product		604824			NA	9464267	Standard		NM_004795	NA	Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.2057C>T	13.37:g.33635273C>T	ENSP00000369442:p.Thr686Met	NA	Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	37	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.862148	0.71949	0.0	2.33E-4	ENSG00000133116	ENST00000380099	T	0.58060	0.36	5.81	5.81	0.92471	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.84660	0.5521	H	0.98426	4.23	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90088	0.4175	10	0.87932	D	0	-26.5349	20.0763	0.97746	0.0:1.0:0.0:0.0	.	686	Q9UEF7	KLOT_HUMAN	M	686	ENSP00000369442:T686M	ENSP00000369442:T686M	T	+	2	0	KL	32533273	1.000000	0.71417	0.964000	0.40570	0.410000	0.31052	7.686000	0.84128	2.756000	0.94617	0.655000	0.94253	ACG	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045987.1		+	ENST00000380099.3	Missense_Mutation	SNP	13 : 33635273 - 33635273 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	319	56
TMUB2	79089	broad.mit.edu	37	17	42266863	42266863	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42266863G>A	ENST00000589184.1	+	2	626				TMUB2_ENST00000587989.1_Missense_Mutation_p.S170N|TMUB2_ENST00000319511.6_Missense_Mutation_p.S150N|TMUB2_ENST00000590235.1_Intron|TMUB2_ENST00000589856.1_Missense_Mutation_p.S150N|TMUB2_ENST00000589785.1_Missense_Mutation_p.S150N|TMUB2_ENST00000587172.1_Intron|TMUB2_ENST00000446571.3_Missense_Mutation_p.S113N|TMUB2_ENST00000592825.1_Intron|TMUB2_ENST00000357984.3_Missense_Mutation_p.S150N|TMUB2_ENST00000538716.2_Missense_Mutation_p.S170N			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	NA						integral to membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTCCCTCCCAGCCCTGGCCTC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	48	48			NA	NA	17		NA											NA				42266863		2203	4300	6503	SO:0001627	intron_variant				CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591	79089	79089			28459	protein-coding gene	gene with protein product					NA	8619474, 9110174	Standard	NM_177441	NM_177441	NA	Approved	MGC3123	uc002ifo.3	Q71RG4		ENST00000589184.1:c.45+404G>A	17.37:g.42266863G>A		NA	B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	37		.	.	.	.	.	.	.	.	.	.	G	7.988	0.752706	0.15778	.	.	ENSG00000168591	ENST00000446571;ENST00000357984;ENST00000538716;ENST00000319511	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.64	3.43	0.39272	.	0.509177	0.22384	N	0.060766	T	0.23410	0.0566	N	0.16478	0.41	0.09310	N	0.999993	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.0;0.002;0.0	T	0.07065	-1.0792	10	0.31617	T	0.26	-6.288	7.3111	0.26475	0.1962:0.0:0.8038:0.0	.	113;150;170	E7ESS3;Q71RG4-3;Q71RG4	.;.;TMUB2_HUMAN	N	113;150;170;150	ENSP00000413127:S113N;ENSP00000350672:S150N;ENSP00000444565:S170N;ENSP00000313214:S150N	ENSP00000313214:S150N	S	+	2	0	TMUB2	39622389	0.579000	0.26725	0.836000	0.33094	0.850000	0.48378	2.586000	0.46119	2.128000	0.65567	0.561000	0.74099	AGC	TMUB2-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000457717.1		+	ENST00000589184.1	Intron	SNP	17 : 42266863 - 42266863 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	332	41
MGAT2	4247	broad.mit.edu	37	14	50088031	50088031	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50088031C>A	ENST00000305386.2	+	1	543	c.45C>A	c.(43-45)ctC>ctA	p.L15L	RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	15					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					TCCTGACGCTCGTGGTGGCCG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	22	21			NA	NA	14		NA											NA				50088031		2196	4285	6481	SO:0001819	synonymous_variant			U15128	CCDS9690.1	14q21	2013-02-25			ENSG00000168282	ENSG00000168282	4247	4247	2.4.1.143	Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases	7045	protein-coding gene	gene with protein product		602616			NA	7635144	Standard	NM_002408	NM_002408	NA	Approved	GNT-II	uc001wwr.3	Q10469	OTTHUMG00000140271	ENST00000305386.2:c.45C>A	14.37:g.50088031C>A		NA	B3KPC5	37	CCDS9690.1																																																																																			MGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276807.1		+	ENST00000305386.2	Silent	SNP	14 : 50088031 - 50088031 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	257	52
DHX34	9704	broad.mit.edu	37	19	47870358	47870358	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47870358G>A	ENST00000328771.4	+	7	2063	c.1714G>A	c.(1714-1716)Gcc>Acc	p.A572T	DHX34_ENST00000471451.1_3'UTR	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	572						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CAGCTCAGAGGCCCTCACACC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	37	37			NA	NA	19		NA											NA				47870358		2203	4300	6503	SO:0001583	missense			D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815	9704	9704		DEAH-boxes	16719	protein-coding gene	gene with protein product		615475	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34	DDX34	NA	10708517, 8590280	Standard	NM_014681	NM_014681	NA	Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.1714G>A	19.37:g.47870358G>A	ENSP00000331907:p.Ala572Thr	NA	B4DMY8	37	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119434	0.37436	.	.	ENSG00000134815	ENST00000328771;ENST00000257252	T	0.02631	4.22	5.46	1.91	0.25777	Helicase-associated domain (2);	0.562264	0.16895	N	0.195155	T	0.02119	0.0066	N	0.26162	0.8	0.30097	N	0.807772	B	0.14438	0.01	B	0.17979	0.02	T	0.34279	-0.9835	10	0.19147	T	0.46	-24.4834	6.3607	0.21427	0.2459:0.1443:0.6098:0.0	.	572	Q14147	DHX34_HUMAN	T	572;487	ENSP00000331907:A572T	ENSP00000257252:A487T	A	+	1	0	DHX34	52562193	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.792000	0.26929	1.215000	0.43411	0.561000	0.74099	GCC	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000314313.3		+	ENST00000328771.4	Missense_Mutation	SNP	19 : 47870358 - 47870358 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	241	46
TNNI2	7136	broad.mit.edu	37	11	1862727	1862727	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1862727C>T	ENST00000381906.1	+	8	564	c.495C>T	c.(493-495)atC>atT	p.I165I	TNNI2_ENST00000252898.7_Silent_p.I165I|TNNI2_ENST00000381911.1_Silent_p.I165I|TNNI2_ENST00000381905.3_Silent_p.I165I	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	165					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGAAGAACATCGAGGAGAAGT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													231	188	203			NA	NA	11		NA											NA				1862727		2202	4299	6501	SO:0001819	synonymous_variant			L21715	CCDS31333.1, CCDS53594.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130598	ENSG00000130598	7136	7136			11946	protein-coding gene	gene with protein product	troponin I, fast-twitch skeletal muscle isoform, troponin I fast twitch 2	191043	troponin I, skeletal, fast, arthrogryposis multiplex congenita, distal, type 2B	AMCD2B	NA	9016781, 12592607	Standard	NM_003282	NM_001145829	NA	Approved	FSSV, DA2B	uc010qxe.1	P48788	OTTHUMG00000012253	ENST00000381906.1:c.495C>T	11.37:g.1862727C>T		NA	A6NJU5	37	CCDS31333.1																																																																																			TNNI2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034046.2		+	ENST00000381906.1	Silent	SNP	11 : 1862727 - 1862727 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	429	79
RTN1	6252	broad.mit.edu	37	14	60074020	60074020	+	Silent	SNP	G	G	A	rs113101447	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60074020G>A	ENST00000395090.1	-	3	465	c.207C>T	c.(205-207)gaC>gaT	p.D69D	RTN1_ENST00000342503.4_Silent_p.D84D|RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000267484.5_Silent_p.D652D			Q16799	RTN1_HUMAN	reticulon 1	652					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GGTGGCCTTCGTCGGTTTTCT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,,	15,4391	22.3+/-47.3	0,15,2188	71	62	65		1956,252,696	-0.4	1	14	dbSNP_132	65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	RTN1	NM_021136.2,NM_206852.2,NM_206857.1	,,	0,16,6487	AA,AG,GG	NA	0.0116,0.3404,0.123	,,	652/777,84/209,232/357	60074020	16,12990	2203	4300	6503	SO:0001819	synonymous_variant			L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970	6252	6252			10467	protein-coding gene	gene with protein product		600865	neuroendocrine-specific protein	NSP	NA	8275708	Standard		NM_206852	NA	Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000395090.1:c.207C>T	14.37:g.60074020G>A		NA	Q16800|Q16801|Q5BKZ4|Q9BQ59	37																																																																																				RTN1-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000258263.1		-	ENST00000395090.1	Silent	SNP	14 : 60074020 - 60074020 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	165	29
CPT1B	1375	broad.mit.edu	37	22	51014508	51014508	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51014508G>A	ENST00000360719.2	-	7	870	c.733C>T	c.(733-735)Cga>Tga	p.R245*	CPT1B_ENST00000457250.1_Nonsense_Mutation_p.R211*|CPT1B_ENST00000440709.1_Nonsense_Mutation_p.R245*|CPT1B_ENST00000312108.7_Nonsense_Mutation_p.R245*|CPT1B_ENST00000395650.2_Nonsense_Mutation_p.R245*|CPT1B_ENST00000434492.2_Nonsense_Mutation_p.R42*|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000405237.3_Nonsense_Mutation_p.R245*	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	245					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	p.R245*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CTCCTGCCTCGAAGGTAGATG	0.582		NA									OREG0026685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(170;988 1933 25577 30295 48163)							NA				1	Substitution - Nonsense(1)	large_intestine(1)						G	stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	102	89	93		631,733,733,733,733,733,733	3.8	1	22		93	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained	CPT1B	NM_001145134.1,NM_001145135.1,NM_001145136.1,NM_001145137.1,NM_004377.3,NM_152245.2,NM_152246.2	,,,,,,	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	,,,,,,	211/739,245/773,245/692,245/773,245/773,245/773,245/773	51014508	1,13005	2203	4300	6503	SO:0001587	stop_gained			U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560	1375	1375			2329	protein-coding gene	gene with protein product		601987			NA	9070950	Standard	NM_152246	NM_152245	NA	Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.733C>T	22.37:g.51014508G>A	ENSP00000353945:p.Arg245*	974	Q13389|Q99655|Q9BY90	37	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	G	36	5.597902	0.96602	0.0	1.16E-4	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	.	.	.	4.81	3.76	0.43208	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4107	9.9502	0.41634	0.0:0.0:0.63:0.37	.	.	.	.	X	245;245;245;211;245;42;245	.	ENSP00000312189:R245X	R	-	1	2	CPT1B	49361374	0.582000	0.26749	0.967000	0.41034	0.997000	0.91878	1.018000	0.30002	1.210000	0.43336	0.561000	0.74099	CGA	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317264.5		-	ENST00000360719.2	Nonsense_Mutation	SNP	22 : 51014508 - 51014508 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	482	84
SLC38A8	146167	broad.mit.edu	37	16	84056480	84056480	+	Silent	SNP	G	G	A	rs146922664		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84056480G>A	ENST00000299709.3	-	6	704	c.705C>T	c.(703-705)gcC>gcT	p.A235A		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	235					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGATGGAGACGGCAGCTTCGT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4399	2.1+/-5.4	0,1,2199	68	52	58		705	-10.6	0	16	dbSNP_134	58	0,8600		0,0,4300	no	coding-synonymous	SLC38A8	NM_001080442.1		0,1,6499	AA,AG,GG	NA	0.0,0.0227,0.0077		235/436	84056480	1,12999	2200	4300	6500	SO:0001819	synonymous_variant				CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558	146167	146167		Solute carriers	32434	protein-coding gene	gene with protein product		615585			NA		Standard	NM_001080442	XM_006721135	NA	Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.705C>T	16.37:g.84056480G>A		NA		37	CCDS32495.1																																																																																			SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432623.1		-	ENST00000299709.3	Silent	SNP	16 : 84056480 - 84056480 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	178	20
ETV4	2118	broad.mit.edu	37	17	41607026	41607026	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41607026C>T	ENST00000545089.1	-	9	907	c.812G>A	c.(811-813)gGg>gAg	p.G271E	ETV4_ENST00000393664.2_Missense_Mutation_p.G325E|ETV4_ENST00000319349.5_Missense_Mutation_p.G325E|ETV4_ENST00000538265.1_Missense_Mutation_p.G286E|ETV4_ENST00000586826.1_Missense_Mutation_p.G48E|ETV4_ENST00000545954.1_Missense_Mutation_p.G286E|ETV4_ENST00000591713.1_Missense_Mutation_p.G325E			P43268	ETV4_HUMAN	ets variant 4	325					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		TGCACCGACCCCTTCCTGCTT	0.597		NA	T	EWSR1, TMPRSS2, DDX5, KLK2, CANT1	Ewing sarcoma, Prostate carcinoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(116;1540 1611 12927 31103 34118)		Dom	yes		17	17q21	2118	ets variant gene 4 (E1A enhancer binding protein, E1AF)		M, E	0													54	61	59			NA	NA	17		NA											NA				41607026		2203	4300	6503	SO:0001583	missense			U18018	CCDS11465.1, CCDS58553.1, CCDS59292.1	17q21	2014-04-30	2008-09-12			ENSG00000175832	2118	2118			3493	protein-coding gene	gene with protein product	E1A enhancer binding protein	600711	ets variant gene 4 (E1A enhancer-binding protein, E1AF)		NA	8530053, 1547944	Standard	NM_001986	NM_001986	NA	Approved	E1A-F, E1AF, PEA3	uc002idw.3	P43268		ENST00000545089.1:c.812G>A	17.37:g.41607026C>T	ENSP00000441749:p.Gly271Glu	NA	A8K314|Q96AW9	37		.	.	.	.	.	.	.	.	.	.	C	17.60	3.429589	0.62844	.	.	ENSG00000175832	ENST00000319349;ENST00000393664;ENST00000538265;ENST00000545954;ENST00000545089	T;T;T;T;T	0.08282	3.12;3.12;3.11;3.11;3.11	6.04	6.04	0.98038	Winged helix-turn-helix transcription repressor DNA-binding (1);PEA3-type ETS-domain transcription factor, N-terminal (1);	0.094180	0.64402	D	0.000001	T	0.24661	0.0598	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	0.992;0.984;1.0	D;P;D	0.97110	0.944;0.825;1.0	T	0.00020	-1.2356	10	0.44086	T	0.13	.	15.1851	0.72993	0.1402:0.8598:0.0:0.0	.	271;286;325	B7Z5F4;B7Z5J3;P43268	.;.;ETV4_HUMAN	E	325;325;286;286;271	ENSP00000321835:G325E;ENSP00000377273:G325E;ENSP00000443846:G286E;ENSP00000440023:G286E;ENSP00000441749:G271E	ENSP00000321835:G325E	G	-	2	0	ETV4	38962552	0.980000	0.34600	0.993000	0.49108	0.233000	0.25261	2.540000	0.45727	2.873000	0.98535	0.561000	0.74099	GGG	ETV4-004	NOVEL	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000453492.1		-	ENST00000545089.1	Missense_Mutation	SNP	17 : 41607026 - 41607026 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	688	21
CEP112	201134	broad.mit.edu	37	17	64092721	64092721	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:64092721C>A	ENST00000392769.2	-	7	890	c.672G>T	c.(670-672)aaG>aaT	p.K224N	CEP112_ENST00000535342.2_Missense_Mutation_p.K224N|CEP112_ENST00000537949.1_Intron	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	224						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						CTGGGATAGGCTTCTGTCTCA	0.254		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	35	34			NA	NA	17		NA											NA				64092721		2201	4298	6499	SO:0001583	missense			AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240	201134	201134			28514	protein-coding gene	gene with protein product			coiled-coil domain containing 46	CCDC46	NA	21399614	Standard	NM_145036	NM_145036	NA	Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.672G>T	17.37:g.64092721C>A	ENSP00000376522:p.Lys224Asn	NA	Q6PIB5|Q8NCR4|Q8NFR4	37	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	C	8.875	0.950258	0.18431	.	.	ENSG00000154240	ENST00000535342;ENST00000392769	T;T	0.50277	0.75;0.75	5.87	2.72	0.32119	.	0.238471	0.33875	N	0.004461	T	0.37625	0.1010	L	0.36672	1.1	0.80722	D	1	P	0.39250	0.665	B	0.41088	0.347	T	0.12268	-1.0554	10	0.41790	T	0.15	-13.8133	8.9568	0.35823	0.0:0.7013:0.0:0.2987	.	224	Q8N8E3	CE112_HUMAN	N	224	ENSP00000442784:K224N;ENSP00000376522:K224N	ENSP00000376522:K224N	K	-	3	2	CEP112	61523183	1.000000	0.71417	0.999000	0.59377	0.488000	0.33401	0.495000	0.22483	0.803000	0.34113	0.591000	0.81541	AAG	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000446582.1		-	ENST00000392769.2	Missense_Mutation	SNP	17 : 64092721 - 64092721 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	303	64
HACE1	57531	broad.mit.edu	37	6	105198220	105198220	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:105198220T>G	ENST00000262903.4	-	20	2615	c.2339A>C	c.(2338-2340)gAa>gCa	p.E780A	HACE1_ENST00000369125.2_Missense_Mutation_p.E565A|HACE1_ENST00000517995.1_5'UTR	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	780	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CCTTACCAATTCATATTCATC	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	73	74			NA	NA	6		NA											NA				105198220		2203	4300	6503	SO:0001583	missense			BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382	57531	57531		Ankyrin repeat domain containing	21033	protein-coding gene	gene with protein product		610876			NA	10718198	Standard	XM_045095	NM_020771	NA	Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.2339A>C	6.37:g.105198220T>G	ENSP00000262903:p.Glu780Ala	NA	Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	37	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.443659	0.83993	.	.	ENSG00000085382	ENST00000262903;ENST00000369125	T;T	0.65916	-0.18;-0.18	5.3	5.3	0.74995	HECT (4);	0.000000	0.85682	D	0.000000	T	0.79161	0.4399	M	0.89840	3.065	0.34930	D	0.749238	D;D;D;D	0.89917	1.0;1.0;0.979;0.974	D;D;D;D	0.97110	1.0;0.999;0.973;0.953	D	0.85522	0.1204	10	0.87932	D	0	.	15.227	0.73359	0.0:0.0:0.0:1.0	.	565;269;780;433	E9PGP0;B4DFM6;Q8IYU2;Q8IYU2-3	.;.;HACE1_HUMAN;.	A	780;565	ENSP00000262903:E780A;ENSP00000358121:E565A	ENSP00000262903:E780A	E	-	2	0	HACE1	105304913	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.565000	0.82337	2.000000	0.58554	0.460000	0.39030	GAA	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041643.2		-	ENST00000262903.4	Missense_Mutation	SNP	6 : 105198220 - 105198220 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	163	38
SLC2A3	6515	broad.mit.edu	37	12	8083913	8083913	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8083913C>T	ENST00000075120.7	-	4	678	c.438G>A	c.(436-438)tcG>tcA	p.S146S		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	146					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		GGGCAGTAGGCGAGATCTCTC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(96;424 1461 14416 20933 23688)							NA				0													90	84	86			NA	NA	12		NA											NA				8083913		2203	4300	6503	SO:0001819	synonymous_variant			M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804	6515	6515		Solute carriers	11007	protein-coding gene	gene with protein product		138170		GLUT3	NA		Standard	NM_006931	NM_006931	NA	Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.438G>A	12.37:g.8083913C>T		NA	B2R606|D3DUU6|Q6I9U2|Q9UG15	37	CCDS8586.1																																																																																			SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257914.1		-	ENST00000075120.7	Silent	SNP	12 : 8083913 - 8083913 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	393	60
CAPN3	825	broad.mit.edu	37	15	42702663	42702663	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42702663A>G	ENST00000397163.3	+	20	2372	c.2153A>G	c.(2152-2154)cAc>cGc	p.H718R	CAPN3_ENST00000397204.4_Missense_Mutation_p.H53R|CAPN3_ENST00000357568.3_Missense_Mutation_p.H712R|CAPN3_ENST00000349748.3_Missense_Mutation_p.H626R|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000397200.4_Missense_Mutation_p.H206R|CAPN3_ENST00000337571.4_Missense_Mutation_p.H53R|CAPN3_ENST00000356316.3_Missense_Mutation_p.H625R|CAPN3_ENST00000318023.7_Missense_Mutation_p.H712R|CAPN3_ENST00000562199.1_3'UTR|CAPN3_ENST00000569136.1_Missense_Mutation_p.H53R|CAPN3_ENST00000561817.1_Missense_Mutation_p.H53R	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	718	Domain IV.|EF-hand 2.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CAGGAGTTCCACCACCTCTGG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	103	102			NA	NA	15		NA											NA				42702663		2203	4299	6502	SO:0001583	missense			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	825	825	3.4.22.52	EF-hand domain containing	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A	NA	2555341, 7720071	Standard		NM_024344	NA	Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.2153A>G	15.37:g.42702663A>G	ENSP00000380349:p.His718Arg	NA	A6H8K6|Q9BTU4|Q9Y5S6|Q9Y5S7	37	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.843131	0.32606	.	.	ENSG00000092529	ENST00000356316;ENST00000337522;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023;ENST00000397200;ENST00000337571;ENST00000397204	T;T;T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	4.72	4.72	0.59763	EF-hand-like domain (1);	0.225090	0.35646	U	0.003074	T	0.48607	0.1509	N	0.01686	-0.76	0.32931	D	0.517108	B;B;B;B;B;B;B	0.11235	0.002;0.004;0.001;0.002;0.003;0.002;0.0	B;B;B;B;B;B;B	0.11329	0.004;0.006;0.006;0.002;0.003;0.001;0.006	T	0.53387	-0.8446	10	0.11485	T	0.65	.	9.2716	0.37675	0.9082:0.0:0.0918:0.0	.	583;631;53;626;712;718;625	C6EVS4;C6EVS3;A4FTZ9;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;.;CAN3_HUMAN;.	R	625;206;718;712;626;712;206;53;53	ENSP00000348667:H625R;ENSP00000380349:H718R;ENSP00000350181:H712R;ENSP00000183936:H626R;ENSP00000326281:H712R;ENSP00000380384:H206R;ENSP00000336840:H53R;ENSP00000380387:H53R	ENSP00000326281:H712R	H	+	2	0	CAPN3	40489955	0.930000	0.31532	0.998000	0.56505	0.653000	0.38743	1.396000	0.34531	1.992000	0.58205	0.460000	0.39030	CAC	CAPN3-009	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421075.1		+	ENST00000397163.3	Missense_Mutation	SNP	15 : 42702663 - 42702663 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	543	119
CHD9	80205	broad.mit.edu	37	16	53190488	53190488	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53190488G>A	ENST00000566029.1	+	2	696	c.487G>A	c.(487-489)Gcc>Acc	p.A163T	CHD9_ENST00000564845.1_Missense_Mutation_p.A163T|CHD9_ENST00000447540.1_Missense_Mutation_p.A163T|CHD9_ENST00000398510.3_Missense_Mutation_p.A163T			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	163					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CCATGACTTTGCCTTATTTCA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	84	84			NA	NA	16		NA											NA				53190488		1931	4140	6071	SO:0001583	missense			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200	80205	80205			25701	protein-coding gene	gene with protein product					NA	9205841	Standard	NM_025134	XM_005256168	NA	Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000566029.1:c.487G>A	16.37:g.53190488G>A	ENSP00000457466:p.Ala163Thr	NA	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	37	CCDS45485.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.294011	0.23564	.	.	ENSG00000177200	ENST00000447540;ENST00000398510	D;D	0.86230	-2.01;-2.09	5.86	3.92	0.45320	.	0.194774	0.35805	N	0.002969	T	0.79347	0.4430	L	0.31294	0.92	0.32306	N	0.564381	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.11329	0.004;0.002;0.006;0.004	T	0.76971	-0.2761	10	0.49607	T	0.09	-0.801	10.0684	0.42317	0.2052:0.0:0.7948:0.0	.	163;163;163;163	Q3L8U1-3;Q3L8U1;Q8NAR9;Q3L8U1-2	.;CHD9_HUMAN;.;.	T	163	ENSP00000396345:A163T;ENSP00000381522:A163T	ENSP00000381522:A163T	A	+	1	0	CHD9	51747989	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.221000	0.51215	0.829000	0.34733	-0.145000	0.13849	GCC	CHD9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000422338.1		+	ENST00000566029.1	Missense_Mutation	SNP	16 : 53190488 - 53190488 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	502	22
TUBGCP2	10844	broad.mit.edu	37	10	135095846	135095846	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135095846T>G	ENST00000252936.3	-	15	2329	c.2290A>C	c.(2290-2292)Aaa>Caa	p.K764Q	TUBGCP2_ENST00000368563.2_Splice_Site_p.K764Q|TUBGCP2_ENST00000368562.1_Splice_Site_p.K357Q|TUBGCP2_ENST00000543663.1_Splice_Site_p.K792Q|TUBGCP2_ENST00000417178.2_Splice_Site_p.K634Q			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	764					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		TGTGTAAATTTCTAGGGGGGG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	23	22			NA	NA	10		NA											NA				135095846		2199	4299	6498	SO:0001630	splice_region_variant			AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640	10844	10844			18599	protein-coding gene	gene with protein product					NA	9566967	Standard		NM_001256617	NA	Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.2290-1A>C	10.37:g.135095846T>G		NA	O43632|Q5VWX7	37	CCDS7676.1	.	.	.	.	.	.	.	.	.	.	T	9.274	1.046430	0.19748	.	.	ENSG00000130640	ENST00000252936;ENST00000417178;ENST00000368563;ENST00000368562;ENST00000543663	T;T;T;T;T	0.32023	2.48;2.22;2.48;1.47;2.48	4.71	2.24	0.28232	.	0.115504	0.56097	D	0.000035	T	0.16385	0.0394	N	0.22421	0.69	0.28609	N	0.908782	B;B;B	0.30542	0.284;0.049;0.138	B;B;B	0.23574	0.047;0.021;0.032	T	0.20338	-1.0278	10	0.13108	T	0.6	-21.9772	10.6963	0.45901	0.0:0.0:0.306:0.694	.	792;792;764	F5H4L0;B7ZKL8;Q9BSJ2	.;.;GCP2_HUMAN	Q	764;634;764;357;792	ENSP00000252936:K764Q;ENSP00000395666:K634Q;ENSP00000357551:K764Q;ENSP00000357550:K357Q;ENSP00000446093:K792Q	ENSP00000252936:K764Q	K	-	1	0	TUBGCP2	134945836	1.000000	0.71417	0.204000	0.23530	0.281000	0.26958	2.253000	0.43205	0.353000	0.24079	0.459000	0.35465	AAA	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051148.1	Missense_Mutation	-	ENST00000252936.3	Splice_Site	SNP	10 : 135095846 - 135095846 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	195	34
KIAA0141	9812	broad.mit.edu	37	5	141312861	141312861	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141312861C>T	ENST00000432126.2	+	8	926	c.792C>T	c.(790-792)gcC>gcT	p.A264A	KIAA0141_ENST00000194118.4_Silent_p.A264A|KIAA0141_ENST00000506775.1_3'UTR	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	264					apoptosis|regulation of caspase activity	mitochondrion	protein binding			endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACGGCAGCCTTTTCTTACT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	77	77			NA	NA	5		NA											NA				141312861		2203	4300	6503	SO:0001819	synonymous_variant			BC011269	CCDS4268.1	5q31	2011-05-05			ENSG00000081791	ENSG00000081791	9812	9812			28969	protein-coding gene	gene with protein product	death ligand signal enhancer	615741			NA	20563667	Standard	NM_014773	XM_005268549	NA	Approved	DELE	uc003llt.3	Q14154	OTTHUMG00000129662	ENST00000432126.2:c.792C>T	5.37:g.141312861C>T		NA	Q969R4|Q96EU9	37	CCDS4268.1																																																																																			KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251863.2		+	ENST00000432126.2	Silent	SNP	5 : 141312861 - 141312861 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	425	74
DSCAM	1826	broad.mit.edu	37	21	41457658	41457658	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41457658G>A	ENST00000400454.1	-	23	4480	c.4003C>T	c.(4003-4005)Cgg>Tgg	p.R1335W		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1335	Ig-like C2-type 10.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATGCTCCTCCGCCCATCAATC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(134;970 1778 1785 21664 32388)							NA				0													87	80	82			NA	NA	21		NA											NA				41457658		1884	4124	6008	SO:0001583	missense			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587	1826	1826		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	3039	protein-coding gene	gene with protein product		602523			NA	9426258	Standard	NM_001389	NM_001271534	NA	Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.4003C>T	21.37:g.41457658G>A	ENSP00000383303:p.Arg1335Trp	NA	O60468	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	32	5.159064	0.94686	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.40756	1.02;1.02	5.52	5.52	0.82312	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74268	0.3694	M	0.92555	3.32	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.80286	-0.1446	10	0.62326	D	0.03	.	19.4584	0.94904	0.0:0.0:1.0:0.0	.	1335	O60469	DSCAM_HUMAN	W	1335;1087	ENSP00000383303:R1335W;ENSP00000385342:R1087W	ENSP00000383303:R1335W	R	-	1	2	DSCAM	40379528	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.550000	0.60733	2.581000	0.87130	0.655000	0.94253	CGG	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195029.1		-	ENST00000400454.1	Missense_Mutation	SNP	21 : 41457658 - 41457658 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	373	40
HSD11B1	3290	broad.mit.edu	37	1	209879197	209879197	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209879197A>G	ENST00000367028.2	+	3	299	c.130A>G	c.(130-132)Aaa>Gaa	p.K44E	HSD11B1_ENST00000367027.3_Missense_Mutation_p.K44E|HSD11B1_ENST00000261465.1_Missense_Mutation_p.K44E|RP1-28O10.1_ENST00000441672.1_RNA	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	44					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	AGGGGCCAGCAAAGGGATCGG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	122	123			NA	NA	1		NA											NA				209879197		2203	4300	6503	SO:0001583	missense			BC012593	CCDS1489.1	1q32-q41	2011-09-20			ENSG00000117594	ENSG00000117594	3290	3290	1.1.1.146	Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3	5208	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 26C, member 1	600713		HSD11B, HSD11	NA	1885595, 19027726	Standard	NM_005525	NM_005525	NA	Approved	SDR26C1	uc001hhk.3	P28845	OTTHUMG00000036481	ENST00000367028.2:c.130A>G	1.37:g.209879197A>G	ENSP00000355995:p.Lys44Glu	NA	B2R9Z1|D3DT89	37	CCDS1489.1	.	.	.	.	.	.	.	.	.	.	A	14.77	2.633986	0.47049	.	.	ENSG00000117594	ENST00000367028;ENST00000261465;ENST00000367027	T;T;T	0.51574	0.7;0.7;0.7	3.95	3.95	0.45737	NAD(P)-binding domain (1);	0.312885	0.31834	N	0.006993	T	0.31482	0.0798	N	0.25957	0.775	0.35651	D	0.811754	B	0.33583	0.418	B	0.30105	0.111	T	0.46978	-0.9152	10	0.59425	D	0.04	.	9.0331	0.36271	0.8352:0.0:0.0:0.1647	.	44	P28845	DHI1_HUMAN	E	44	ENSP00000355995:K44E;ENSP00000261465:K44E;ENSP00000355994:K44E	ENSP00000261465:K44E	K	+	1	0	HSD11B1	207945820	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	4.909000	0.63314	1.746000	0.51805	0.363000	0.22086	AAA	HSD11B1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088743.2		+	ENST00000367028.2	Missense_Mutation	SNP	1 : 209879197 - 209879197 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	409	120
AP3B2	8120	broad.mit.edu	37	15	83335598	83335598	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:83335598G>T	ENST00000535348.1	-	14	1729	c.1657C>A	c.(1657-1659)Ctc>Atc	p.L553I	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.L585I|AP3B2_ENST00000261722.3_Missense_Mutation_p.L585I	NM_001278511.1	NP_001265440.1	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	585					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGGACGATGAGCTGCCGGGTG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	68	66			NA	NA	15		NA											NA				83335598		1955	4134	6089	SO:0001583	missense			U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723	8120	8120			567	protein-coding gene	gene with protein product		602166			NA	7671305, 1851215	Standard		NM_004644	NA	Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000535348.1:c.1657C>A	15.37:g.83335598G>T	ENSP00000438721:p.Leu553Ile	NA	O14808|Q52LY8	37		.	.	.	.	.	.	.	.	.	.	G	25.7	4.662158	0.88251	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.28895	1.59;1.59;1.59	5.84	4.92	0.64577	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.40619	0.1124	L	0.52266	1.64	0.80722	D	1	D;P;P	0.56968	0.978;0.756;0.859	P;P;P	0.53006	0.715;0.456;0.679	T	0.15263	-1.0443	10	0.35671	T	0.21	-24.1255	15.1021	0.72288	0.068:0.0:0.932:0.0	.	553;585;585	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	I	585;553;585	ENSP00000261722:L585I;ENSP00000438721:L553I;ENSP00000440984:L585I	ENSP00000261722:L585I	L	-	1	0	AP3B2	81132653	1.000000	0.71417	0.994000	0.49952	0.981000	0.71138	9.838000	0.99474	1.475000	0.48197	0.655000	0.94253	CTC	AP3B2-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000397466.1		-	ENST00000535348.1	Missense_Mutation	SNP	15 : 83335598 - 83335598 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	482	79
ATP9B	374868	broad.mit.edu	37	18	77037156	77037156	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77037156G>T	ENST00000426216.2	+	13	1388	c.1371G>T	c.(1369-1371)gaG>gaT	p.E457D	ATP9B_ENST00000307671.7_Missense_Mutation_p.E457D	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	457					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CTATCCCAGAGGAACTTGGGC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	142	146			NA	NA	18		NA											NA				77037156		2203	4300	6503	SO:0001583	missense			R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377	374868	374868		ATPases / P-type	13541	protein-coding gene	gene with protein product		614446	ATPase, Class II, type 9B		NA	9548971, 11015572	Standard	NM_198531	NM_198531	NA	Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.1371G>T	18.37:g.77037156G>T	ENSP00000398076:p.Glu457Asp	NA	O60872|Q08AD8|Q08AD9	37	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	g	19.56	3.850651	0.71719	.	.	ENSG00000166377	ENST00000426216;ENST00000307671	D;D	0.94723	-3.5;-3.5	5.4	-1.31	0.09230	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.96281	0.8787	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76071	0.972;0.987	D	0.94917	0.8070	10	0.87932	D	0	.	11.5903	0.50941	0.6405:0.0:0.3595:0.0	.	457;457	O43861;O43861-2	ATP9B_HUMAN;.	D	457	ENSP00000398076:E457D;ENSP00000304500:E457D	ENSP00000304500:E457D	E	+	3	2	ATP9B	75138144	0.711000	0.27906	0.931000	0.37212	0.900000	0.52787	-0.034000	0.12225	-0.207000	0.10187	-0.119000	0.15052	GAG	ATP9B-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256402.3		+	ENST00000426216.2	Missense_Mutation	SNP	18 : 77037156 - 77037156 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	569	94
ADAMTS8	11095	broad.mit.edu	37	11	130275525	130275525	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130275525G>T	ENST00000257359.6	-	9	3304	c.2598C>A	c.(2596-2598)gcC>gcA	p.A866A		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	866	TSP type-1 2.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		AGGTGGCAGAGGCCTGGCCGG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	60	57			NA	NA	11		NA											NA				130275525		1978	4153	6131	SO:0001819	synonymous_variant			AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917	11095	11095		ADAM metallopeptidases with thrombospondin type 1 motif	224	protein-coding gene	gene with protein product		605175	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8		NA	10438512	Standard	NM_007037	NM_007037	NA	Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.2598C>A	11.37:g.130275525G>T		NA	Q9NZS0	37	CCDS41732.1																																																																																			ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385636.1		-	ENST00000257359.6	Silent	SNP	11 : 130275525 - 130275525 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	565	116
COL4A3	1285	broad.mit.edu	37	2	228145242	228145242	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228145242T>C	ENST00000396578.3	+	30	2472	c.2310T>C	c.(2308-2310)atT>atC	p.I770I	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	770	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		ATGGAGAAATTGGACTCCCTG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	104	102			NA	NA	2		NA											NA				228145242		1882	4120	6002	SO:0001819	synonymous_variant				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031	1285	1285		Collagens	2204	protein-coding gene	gene with protein product	tumstatin	120070			NA	1737849	Standard	NM_000091	NM_000091	NA	Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.2310T>C	2.37:g.228145242T>C		NA	Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	37	CCDS42829.1																																																																																			COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331409.2		+	ENST00000396578.3	Silent	SNP	2 : 228145242 - 228145242 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	568	153
NRAP	4892	broad.mit.edu	37	10	115365537	115365537	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115365537C>A	ENST00000359988.3	-	34	4143	c.3899G>T	c.(3898-3900)gGa>gTa	p.G1300V	NRAP_ENST00000369360.3_Missense_Mutation_p.G1273V|NRAP_ENST00000369358.4_Missense_Mutation_p.G1308V|NRAP_ENST00000360478.3_Missense_Mutation_p.G1265V	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1300						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)		GGCTATATCTCCAGAGGCCCG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													298	311	306			NA	NA	10		NA											NA				115365537		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.3899G>T	10.37:g.115365537C>A	ENSP00000353078:p.Gly1300Val	NA	O15500|Q5VWI3|Q5VWI4|Q6MZK3|Q6N026|Q6N059|Q6NSH8|Q6PDB0|Q719H6|Q86TC5|Q86TD6|Q86TE6|Q86VF6|Q8N3R6|Q8N8F9|Q8TCH0|Q96MG4	37	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.893655	0.33442	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.16324	2.56;2.56;2.44;2.35	5.24	5.24	0.73138	.	0.298590	0.37483	N	0.002077	T	0.20251	0.0487	L	0.46157	1.445	0.53005	D	0.999964	B;P;B	0.34462	0.325;0.454;0.325	B;B;B	0.38985	0.15;0.287;0.15	T	0.01729	-1.1286	10	0.34782	T	0.22	.	14.7668	0.69646	0.0:0.8558:0.1442:0.0	.	1300;1265;1300	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	V	1308;1273;1300;1265	ENSP00000358365:G1308V;ENSP00000358367:G1273V;ENSP00000353078:G1300V;ENSP00000353666:G1265V	ENSP00000353078:G1300V	G	-	2	0	NRAP	115355527	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.155000	0.50700	2.622000	0.88805	0.555000	0.69702	GGA	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050425.2		-	ENST00000359988.3	Missense_Mutation	SNP	10 : 115365537 - 115365537 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2703	476
DMXL1	1657	broad.mit.edu	37	5	118469685	118469685	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118469685G>T	ENST00000311085.8	+	12	2146	c.2066G>T	c.(2065-2067)aGc>aTc	p.S689I	DMXL1_ENST00000539542.1_Missense_Mutation_p.S689I	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	689										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CAAAATAAAAGCACTGTTGAC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	117	118			NA	NA	5		NA											NA				118469685		2202	4300	6502	SO:0001583	missense			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869	1657	1657		WD repeat domain containing	2937	protein-coding gene	gene with protein product		605671			NA	10708522	Standard	NM_005509	NM_005509	NA	Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.2066G>T	5.37:g.118469685G>T	ENSP00000309690:p.Ser689Ile	NA		37	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	6.734	0.504230	0.12822	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.01388	4.95;4.95	5.53	2.75	0.32379	WD40/YVTN repeat-like-containing domain (1);	0.491773	0.26075	N	0.026490	T	0.01592	0.0051	L	0.40543	1.245	0.25668	N	0.985924	B;B	0.27853	0.191;0.037	B;B	0.28709	0.093;0.043	T	0.46034	-0.9220	9	.	.	.	-0.7137	10.1344	0.42697	0.2742:0.0:0.7258:0.0	.	689;689	F5H269;Q9Y485	.;DMXL1_HUMAN	I	689	ENSP00000309690:S689I;ENSP00000439479:S689I	.	S	+	2	0	DMXL1	118497584	0.045000	0.20229	0.991000	0.47740	0.398000	0.30690	0.219000	0.17641	0.700000	0.31782	0.460000	0.39030	AGC	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250862.1		+	ENST00000311085.8	Missense_Mutation	SNP	5 : 118469685 - 118469685 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	568	30
PFKM	5213	broad.mit.edu	37	12	48538862	48538862	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48538862G>A	ENST00000340802.6	+	23	2478	c.2254G>A	c.(2254-2256)Gcc>Acc	p.A752T	PFKM_ENST00000312352.7_Missense_Mutation_p.A681T|PFKM_ENST00000547587.1_Missense_Mutation_p.A681T|PFKM_ENST00000551804.1_Missense_Mutation_p.A650T|PFKM_ENST00000395233.2_Missense_Mutation_p.A650T|PFKM_ENST00000359794.5_Missense_Mutation_p.A681T	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	681					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TAAGATGGGCGCCAAGGCTAT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	104	106			NA	NA	12		NA											NA				48538862		2203	4300	6503	SO:0001583	missense			M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					5213	5213	2.7.1.11		8877	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 122	610681	phosphofructokinase, polypeptide X	PFKX	NA		Standard	NM_000289	NM_001166686	NA	Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000340802.6:c.2254G>A	12.37:g.48538862G>A	ENSP00000345771:p.Ala752Thr	NA	Q16814|Q16815	37	CCDS53786.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665671	0.88251	.	.	ENSG00000152556	ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352	T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39	5.05	5.05	0.67936	Phosphofructokinase domain (2);	0.109437	0.64402	D	0.000008	D	0.84575	0.5502	M	0.79926	2.475	0.80722	D	1	P;P;D	0.60160	0.556;0.849;0.987	B;B;P	0.47941	0.187;0.375;0.562	D	0.83886	0.0282	10	0.30078	T	0.28	-19.231	18.5901	0.91208	0.0:0.0:1.0:0.0	.	650;681;752	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	T	752;681;650;650;681;681	ENSP00000345771:A752T;ENSP00000352842:A681T;ENSP00000378656:A650T;ENSP00000448177:A650T;ENSP00000449426:A681T;ENSP00000309438:A681T	ENSP00000309438:A681T	A	+	1	0	PFKM	46825129	1.000000	0.71417	0.967000	0.41034	0.988000	0.76386	5.542000	0.67218	2.793000	0.96121	0.655000	0.94253	GCC	PFKM-001	PUTATIVE	downstream_ATG|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406484.1		+	ENST00000340802.6	Missense_Mutation	SNP	12 : 48538862 - 48538862 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	66
SSRP1	6749	broad.mit.edu	37	11	57098390	57098390	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57098390C>T	ENST00000278412.2	-	10	1501	c.1235G>A	c.(1234-1236)gGg>gAg	p.G412E		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	412					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						AAACAGTTTCCCGTACTCCTC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(89;1000 1340 6884 23013 41819)							NA				0													154	123	134			NA	NA	11		NA											NA				57098390		2201	4296	6497	SO:0001583	missense			M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136	6749	6749			11327	protein-coding gene	gene with protein product	facilitates chromatin remodeling 80 kDa subunit	604328			NA	1372440	Standard	NM_003146	NM_003146	NA	Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.1235G>A	11.37:g.57098390C>T	ENSP00000278412:p.Gly412Glu	NA	Q5BJG8	37	CCDS7952.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.317282	0.60524	.	.	ENSG00000149136	ENST00000278412	T	0.41065	1.01	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.31606	0.0802	N	0.25890	0.77	0.80722	D	1	B	0.32968	0.392	B	0.37943	0.261	T	0.05022	-1.0911	10	0.07482	T	0.82	-24.3985	15.5356	0.76001	0.0:1.0:0.0:0.0	.	412	Q08945	SSRP1_HUMAN	E	412	ENSP00000278412:G412E	ENSP00000278412:G412E	G	-	2	0	SSRP1	56854966	1.000000	0.71417	0.996000	0.52242	0.954000	0.61252	7.029000	0.76477	2.423000	0.82170	0.555000	0.69702	GGG	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392460.1		-	ENST00000278412.2	Missense_Mutation	SNP	11 : 57098390 - 57098390 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	304	44
ARPC2	10109	broad.mit.edu	37	2	219103454	219103454	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219103454A>C	ENST00000295685.10	+	5	597	c.336A>C	c.(334-336)caA>caC	p.Q112H	ARPC2_ENST00000315717.5_Missense_Mutation_p.Q112H|ARPC2_ENST00000477992.1_3'UTR	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	112					cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		TTGTGCATCAAGCTGGCATGT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	145	145			NA	NA	2		NA											NA				219103454		2203	4300	6503	SO:0001583	missense			AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466	10109	10109		Actin related protein 2/3 complex subunits	705	protein-coding gene	gene with protein product		604224	actin related protein 2/3 complex, subunit 2 (34 kD)		NA	9359840, 9230079	Standard	NM_005731	NM_005731	NA	Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.336A>C	2.37:g.219103454A>C	ENSP00000295685:p.Gln112His	NA	Q92801|Q9P1D4	37	CCDS2410.1	.	.	.	.	.	.	.	.	.	.	A	14.11	2.437524	0.43224	.	.	ENSG00000163466	ENST00000315717;ENST00000295685	.	.	.	5.52	2.48	0.30137	.	0.000000	0.85682	D	0.000000	T	0.46444	0.1393	L	0.45137	1.4	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	T	0.35201	-0.9798	9	0.52906	T	0.07	.	8.7287	0.34485	0.3803:0.0:0.6197:0.0	.	112	O15144	ARPC2_HUMAN	H	112	.	ENSP00000295685:Q112H	Q	+	3	2	ARPC2	218811699	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.991000	0.49409	0.325000	0.23359	-0.376000	0.06991	CAA	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256777.2		+	ENST00000295685.10	Missense_Mutation	SNP	2 : 219103454 - 219103454 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1056	269
SLC25A17	10478	broad.mit.edu	37	22	41166939	41166939	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41166939G>T	ENST00000402844.3	-	5	1557	c.577C>A	c.(577-579)Ctg>Atg	p.L193M	SLC25A17_ENST00000542412.1_Missense_Mutation_p.L202M|SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000544408.1_Missense_Mutation_p.L238M|SLC25A17_ENST00000435456.2_Missense_Mutation_p.L275M			O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	275					fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						ACTGTCTGCAGCAGTTTGGCT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													213	210	211			NA	NA	22		NA											NA				41166939		2203	4300	6503	SO:0001583	missense			Y12860	CCDS14005.1, CCDS74868.1	22q13.2	2013-05-22	2002-08-29		ENSG00000100372	ENSG00000100372	10478	10478		Solute carriers	10987	protein-coding gene	gene with protein product	peroxisomal membrane protein (34kD)	606795	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kD), member 17		NA	9874197	Standard	NM_006358	NM_006358	NA	Approved	PMP34	uc003azc.3	O43808	OTTHUMG00000151139	ENST00000402844.3:c.577C>A	22.37:g.41166939G>T	ENSP00000385303:p.Leu193Met	NA	A8KA59|Q5TFL0|Q9UGW8|Q9UGY7	37		.	.	.	.	.	.	.	.	.	.	G	22.0	4.225570	0.79576	.	.	ENSG00000100372	ENST00000435456;ENST00000402844;ENST00000544408;ENST00000542412	T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48	5.38	4.37	0.52481	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.87791	0.6266	M	0.77313	2.365	0.80722	D	1	D;D;D	0.89917	1.0;0.977;0.97	D;D;D	0.74023	0.982;0.926;0.953	D	0.87229	0.2259	10	0.44086	T	0.13	-8.0327	10.5191	0.44907	0.1481:0.0:0.8519:0.0	.	202;238;275	F5GYD1;B4DU97;O43808	.;.;PM34_HUMAN	M	275;193;238;202	ENSP00000390722:L275M;ENSP00000385303:L193M;ENSP00000438355:L238M;ENSP00000446471:L202M	ENSP00000385303:L193M	L	-	1	2	SLC25A17	39496885	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	6.771000	0.74996	1.421000	0.47157	0.655000	0.94253	CTG	SLC25A17-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000321490.1		-	ENST00000402844.3	Missense_Mutation	SNP	22 : 41166939 - 41166939 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1293	216
CUBN	8029	broad.mit.edu	37	10	16949516	16949516	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16949516C>T	ENST00000377833.4	-	49	7761	c.7696G>A	c.(7696-7698)Gaa>Aaa	p.E2566K		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2566					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCTGCATCTTCACTGGAGGTA	0.458		NA											C	0	0	NA	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0	0	EXOME	NA	NA	3e-04	SNP								NA				0													79	67	71			NA	NA	10		NA											NA				16949516		2203	4300	6503	SO:0001583	missense			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611	8029	8029			2548	protein-coding gene	gene with protein product		602997		MGA1	NA	9572993, 9478979	Standard	NM_001081	NM_001081	NA	Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7696G>A	10.37:g.16949516C>T	ENSP00000367064:p.Glu2566Lys	NA	B0YIZ4|Q5VTA6|Q96RU9	37	CCDS7113.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	35	5.467395	0.96257	.	.	ENSG00000107611	ENST00000377833	T	0.77098	-1.07	5.23	5.23	0.72850	CUB (2);	0.279331	0.25540	N	0.029974	D	0.83133	0.5188	L	0.45744	1.44	0.80722	D	1	D	0.63880	0.993	P	0.59115	0.852	T	0.82910	-0.0223	10	0.46703	T	0.11	.	19.1791	0.93615	0.0:1.0:0.0:0.0	.	2566	O60494	CUBN_HUMAN	K	2566	ENSP00000367064:E2566K	ENSP00000367064:E2566K	E	-	1	0	CUBN	16989522	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.287000	0.65645	2.603000	0.88011	0.650000	0.86243	GAA	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047009.1		-	ENST00000377833.4	Missense_Mutation	SNP	10 : 16949516 - 16949516 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	61
NAGLU	4669	broad.mit.edu	37	17	40696083	40696083	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40696083G>T	ENST00000225927.2	+	6	2160	c.2059G>T	c.(2059-2061)Gcc>Tcc	p.A687S	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	687						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	TGACAGTGTGGCCCAGGGCAT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	43	44			NA	NA	17		NA											NA				40696083		2203	4300	6503	SO:0001583	missense				CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	4669	4669	3.2.1.50		7632	protein-coding gene	gene with protein product	Sanfilippo disease IIIB	609701			NA		Standard	NM_000263	XM_006721920	NA	Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.2059G>T	17.37:g.40696083G>T	ENSP00000225927:p.Ala687Ser	NA		37	CCDS11427.1	.	.	.	.	.	.	.	.	.	.	G	1.449	-0.565416	0.03939	.	.	ENSG00000108784	ENST00000225927;ENST00000377405	D	0.98585	-5.01	5.03	4.07	0.47477	Alpha-N-acetylglucosaminidase, C-terminal (1);	0.641663	0.15989	N	0.234907	D	0.93314	0.7869	N	0.22421	0.69	0.23546	N	0.997445	P	0.34837	0.472	B	0.31946	0.138	D	0.86859	0.2028	10	0.09338	T	0.73	-17.5316	7.2747	0.26277	0.2614:0.0:0.7386:0.0	.	687	P54802	ANAG_HUMAN	S	687;363	ENSP00000225927:A687S	ENSP00000225927:A687S	A	+	1	0	NAGLU	37949609	0.881000	0.30235	0.838000	0.33150	0.289000	0.27227	1.467000	0.35321	1.274000	0.44362	0.555000	0.69702	GCC	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450385.1		+	ENST00000225927.2	Missense_Mutation	SNP	17 : 40696083 - 40696083 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	144	39
WRNIP1	56897	broad.mit.edu	37	6	2784570	2784570	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:2784570C>T	ENST00000380769.4	+	6	1226	c.995C>T	c.(994-996)cCg>cTg	p.P332L	WRNIP1_ENST00000380764.1_Missense_Mutation_p.P168L|WRNIP1_ENST00000380771.4_Missense_Mutation_p.P527L|WRNIP1_ENST00000380773.4_Missense_Mutation_p.P552L			Q96S55	WRIP1_HUMAN	Werner helicase interacting protein 1	552					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				CTGGCAGACCCGTCTGCGTTA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	88	97			NA	NA	6		NA											NA				2784570		2203	4300	6503	SO:0001583	missense			AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535	56897	56897		ATPases / AAA-type	20876	protein-coding gene	gene with protein product		608196			NA	11301316	Standard	NM_130395	NM_020135	NA	Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380769.4:c.995C>T	6.37:g.2784570C>T	ENSP00000370146:p.Pro332Leu	NA	B2RDB0|Q53EP6|Q59ET8|Q5W0E2|Q5W0E4|Q8WV26|Q9H681|Q9NRJ6	37		.	.	.	.	.	.	.	.	.	.	C	28.4	4.917728	0.92249	.	.	ENSG00000124535	ENST00000380773;ENST00000380771;ENST00000380769;ENST00000380764	T;T;T	0.54071	0.6;0.59;0.67	5.57	5.57	0.84162	MgsA AAA+ ATPase C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77994	0.4214	H	0.95328	3.655	0.80722	D	1	D;D	0.89917	1.0;0.977	D;P	0.66497	0.944;0.472	D	0.84723	0.0741	10	0.87932	D	0	-0.8257	18.5466	0.91048	0.0:1.0:0.0:0.0	.	527;552	Q96S55-2;Q96S55	.;WRIP1_HUMAN	L	552;527;332;168	ENSP00000370150:P552L;ENSP00000370148:P527L;ENSP00000370146:P332L	ENSP00000370141:P168L	P	+	2	0	WRNIP1	2729569	1.000000	0.71417	0.960000	0.40013	0.969000	0.65631	7.344000	0.79328	2.610000	0.88304	0.563000	0.77884	CCG	WRNIP1-003	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000039643.2		+	ENST00000380769.4	Missense_Mutation	SNP	6 : 2784570 - 2784570 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	156	35
HINFP	25988	broad.mit.edu	37	11	119003275	119003275	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119003275G>A	ENST00000527410.1	+	6	780	c.746G>A	c.(745-747)cGc>cAc	p.R249H	HINFP_ENST00000350777.2_Missense_Mutation_p.R249H			Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	249					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GACCACATGCGCAACCATGGT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	98	100			NA	NA	11		NA											NA				119003275		2200	4295	6495	SO:0001583	missense			AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273	25988	25988		Zinc fingers, C2H2-type	17850	protein-coding gene	gene with protein product	histone nuclear factor P	607099	MBD2-interacting zinc finger 1, MBD2-interacting zinc finger	MIZF	NA	11553631	Standard	NM_015517	NM_015517	NA	Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000527410.1:c.746G>A	11.37:g.119003275G>A	ENSP00000436815:p.Arg249His	NA	B3KPH6|Q96E65|Q9Y4M7	37	CCDS58188.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015527	0.93404	.	.	ENSG00000172273	ENST00000350777;ENST00000527410	T;T	0.02085	4.46;4.46	5.63	5.63	0.86233	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.14917	0.0360	M	0.81942	2.565	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.00038	-1.2244	10	0.87932	D	0	-29.5397	18.6818	0.91548	0.0:0.0:1.0:0.0	.	249	Q9BQA5	HINFP_HUMAN	H	249	ENSP00000318085:R249H;ENSP00000436815:R249H	ENSP00000318085:R249H	R	+	2	0	HINFP	118508485	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.971000	0.93419	2.665000	0.90641	0.655000	0.94253	CGC	HINFP-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388205.1		+	ENST00000527410.1	Missense_Mutation	SNP	11 : 119003275 - 119003275 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	616	105
PPIG	9360	broad.mit.edu	37	2	170493763	170493763	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170493763C>T	ENST00000260970.3	+	14	2215	c.1995C>T	c.(1993-1995)taC>taT	p.Y665Y	PPIG_ENST00000448752.2_Silent_p.Y665Y|PPIG_ENST00000409714.3_Silent_p.Y650Y	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	665					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AAAGAATGTACTCTAAAAGTC	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	75	73			NA	NA	2		NA											NA				170493763		2202	4300	6502	SO:0001819	synonymous_variant			X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	9360	9360	6.1.1.16		14650	protein-coding gene	gene with protein product	SR-related CTD-associated factor 10	606093	peptidyl-prolyl isomerase G (cyclophilin G)		NA	8973360, 9153302	Standard		NM_004792	NA	Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.1995C>T	2.37:g.170493763C>T		NA	D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	37	CCDS2235.1																																																																																			PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255264.2		+	ENST00000260970.3	Silent	SNP	2 : 170493763 - 170493763 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	306	87
MAP7	9053	broad.mit.edu	37	6	136704889	136704889	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136704889T>C	ENST00000354570.3	-	6	967	c.557A>G	c.(556-558)aAt>aGt	p.N186S	MAP7_ENST00000438100.2_Intron|MAP7_ENST00000432797.2_Missense_Mutation_p.N40S|MAP7_ENST00000454590.1_Missense_Mutation_p.N208S|MAP7_ENST00000544465.1_Missense_Mutation_p.N171S	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	186					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TTTCGAAAGATTCATGGTGGA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	114	116			NA	NA	6		NA											NA				136704889		2203	4300	6503	SO:0001583	missense			X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525	9053	9053			6869	protein-coding gene	gene with protein product		604108			NA	8408219	Standard	NM_003980	NM_003980	NA	Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.557A>G	6.37:g.136704889T>C	ENSP00000346581:p.Asn186Ser	NA	Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	37	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	T	17.04	3.286674	0.59867	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000432797;ENST00000345567	T;T;T;T	0.06687	3.27;3.27;3.27;3.27	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000008	T	0.17408	0.0418	M	0.67625	2.065	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.997;1.0;0.999	D;D;D;D;D;D	0.83275	0.991;0.996;0.991;0.985;0.996;0.991	T	0.03863	-1.0997	10	0.22706	T	0.39	-20.3185	16.6438	0.85155	0.0:0.0:0.0:1.0	.	208;171;208;208;92;186	B7ZB64;F5H1E2;E9PCP3;B7Z400;F8W783;Q14244	.;.;.;.;.;MAP7_HUMAN	S	186;208;171;40;92	ENSP00000346581:N186S;ENSP00000414712:N208S;ENSP00000445737:N171S;ENSP00000414879:N40S	ENSP00000344217:N92S	N	-	2	0	MAP7	136746582	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.594000	0.82698	2.333000	0.79357	0.533000	0.62120	AAT	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042382.2		-	ENST00000354570.3	Missense_Mutation	SNP	6 : 136704889 - 136704889 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	415	85
ZKSCAN2	342357	broad.mit.edu	37	16	25258585	25258585	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25258585A>C	ENST00000328086.7	-	5	1735	c.932T>G	c.(931-933)gTt>gGt	p.V311G		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	311					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		AATAGCATGAACTGACTTTTC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	118	123			NA	NA	16		NA											NA				25258585		2197	4300	6497	SO:0001583	missense			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592	342357	342357		Zinc fingers, C2H2-type, -, -, -	25677	protein-coding gene	gene with protein product			zinc finger protein 694	ZNF694	NA		Standard	NM_001012981	NM_001012981	NA	Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.932T>G	16.37:g.25258585A>C	ENSP00000331626:p.Val311Gly	NA	A1L3B4|Q6ZN77	37	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	A	7.519	0.656243	0.14580	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.07444	3.19	5.76	3.34	0.38264	.	0.246896	0.28241	N	0.016079	T	0.10895	0.0266	L	0.38175	1.15	0.52099	D	0.999948	B;P;B	0.51791	0.0;0.948;0.001	B;P;B	0.53861	0.001;0.736;0.003	T	0.13019	-1.0525	10	0.38643	T	0.18	-10.3527	5.4928	0.16785	0.6867:0.2218:0.0915:0.0	.	107;311;311	B4DYF0;Q63HK3-2;Q63HK3	.;.;ZKSC2_HUMAN	G	311	ENSP00000331626:V311G	ENSP00000331626:V311G	V	-	2	0	ZKSCAN2	25166086	0.001000	0.12720	0.920000	0.36463	0.744000	0.42396	0.351000	0.20096	1.109000	0.41680	0.533000	0.62120	GTT	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000435739.1		-	ENST00000328086.7	Missense_Mutation	SNP	16 : 25258585 - 25258585 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	458	81
ACP5	54	broad.mit.edu	37	19	11686037	11686037	+	Missense_Mutation	SNP	C	C	T	rs146196342	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11686037C>T	ENST00000592828.1	-	7	1168	c.766G>A	c.(766-768)Gtg>Atg	p.V256M	ZNF627_ENST00000588651.1_Intron|ACP5_ENST00000433365.2_Missense_Mutation_p.V256M|ACP5_ENST00000412435.2_Missense_Mutation_p.V256M|ACP5_ENST00000590420.1_Intron|ACP5_ENST00000218758.5_Missense_Mutation_p.V256M	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	256					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						CCACTCAGCACGTAGCCCACG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	49	53			NA	NA	19		NA											NA				11686037		2203	4300	6503	SO:0001583	missense			X14618	CCDS12265.1	19p13.2	2012-10-02			ENSG00000102575	ENSG00000102575	54	54	3.1.3.2		124	protein-coding gene	gene with protein product	tartrate-resistant acid phosphatase	171640			NA	8449511, 2338077	Standard		NM_001611	NA	Approved	TRAP	uc002msj.4	P13686	OTTHUMG00000182036	ENST00000592828.1:c.766G>A	19.37:g.11686037C>T	ENSP00000468767:p.Val256Met	NA	A8K3V2|Q2TAB1|Q6IAS6|Q9UCJ5|Q9UCJ6|Q9UCJ7	37	CCDS12265.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.354051	0.24512	.	.	ENSG00000102575	ENST00000218758;ENST00000412435;ENST00000433365	T;T;T	0.71461	-0.57;-0.57;-0.57	4.82	2.55	0.30701	.	0.279582	0.35525	N	0.003156	T	0.57359	0.2048	L	0.56280	1.765	0.80722	D	1	P	0.37101	0.582	B	0.28465	0.09	T	0.52815	-0.8525	10	0.48119	T	0.1	-17.5314	7.146	0.25583	0.0:0.69:0.0:0.31	.	256	P13686	PPA5_HUMAN	M	256	ENSP00000218758:V256M;ENSP00000392374:V256M;ENSP00000413456:V256M	ENSP00000218758:V256M	V	-	1	0	ACP5	11547037	0.882000	0.30256	0.823000	0.32752	0.264000	0.26372	1.619000	0.36965	0.355000	0.24131	0.550000	0.68814	GTG	ACP5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458881.1		-	ENST00000592828.1	Missense_Mutation	SNP	19 : 11686037 - 11686037 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	335	58
RAB24	53917	broad.mit.edu	37	5	176729783	176729783	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176729783G>A	ENST00000303270.6	-	2	750	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	RAB24_ENST00000393611.2_Missense_Mutation_p.R79W|RAB24_ENST00000303251.6_Missense_Mutation_p.R79W			Q969Q5	RAB24_HUMAN	RAB24, member RAS oncogene family	79					autophagy|protein transport|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|protein binding				NA	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGGCACCCCGATAGTAGATT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	99	101			NA	NA	5		NA											NA				176729783		2203	4300	6503	SO:0001583	missense			AF087904	CCDS34300.1	5q35.3	2009-10-06			ENSG00000169228	ENSG00000169228	53917	53917		RAB, member RAS oncogene	9765	protein-coding gene	gene with protein product		612415			NA		Standard	NM_130781	NM_001031677	NA	Approved		uc003mfw.3	Q969Q5	OTTHUMG00000130849	ENST00000303270.6:c.148C>T	5.37:g.176729783G>A	ENSP00000302085:p.Arg50Trp	NA	Q7Z4Z7	37		.	.	.	.	.	.	.	.	.	.	G	21.6	4.168804	0.78339	.	.	ENSG00000169228	ENST00000393611;ENST00000303251;ENST00000303270	T;T;T	0.73047	-0.71;-0.71;-0.71	5.49	3.63	0.41609	Small GTP-binding protein domain (1);	0.000000	0.85682	U	0.000000	D	0.88855	0.6550	H	0.97186	3.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91429	0.5164	10	0.87932	D	0	-0.5622	14.0463	0.64706	0.0:0.0:0.7244:0.2755	.	79;50	Q969Q5;F8W8H5	RAB24_HUMAN;.	W	79;79;50	ENSP00000377235:R79W;ENSP00000304376:R79W;ENSP00000302085:R50W	ENSP00000304376:R79W	R	-	1	2	RAB24	176662389	1.000000	0.71417	0.985000	0.45067	0.993000	0.82548	2.973000	0.49264	0.617000	0.30160	0.555000	0.69702	CGG	RAB24-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000253418.1		-	ENST00000303270.6	Missense_Mutation	SNP	5 : 176729783 - 176729783 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	837	138
CCDC114	93233	broad.mit.edu	37	19	48800516	48800516	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48800516G>A	ENST00000315396.7	-	14	2412	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	577								p.T577M(1)|p.T370M(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GTCACCGTGCGTGATGTGGCT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	cervix(2)											55	51	53			NA	NA	19		NA											NA				48800516		2203	4300	6503	SO:0001583	missense			BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479	93233	93233			26560	protein-coding gene	gene with protein product		615038			NA	23261302, 23261303	Standard	NM_144577	NM_144577	NA	Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.1730C>T	19.37:g.48800516G>A	ENSP00000318429:p.Thr577Met	NA	Q6ZRL4|Q96M06|Q9UFG8	37	CCDS12714.2	.	.	.	.	.	.	.	.	.	.	G	8.611	0.889042	0.17540	.	.	ENSG00000105479	ENST00000315396	T	0.32988	1.43	2.2	1.01	0.19927	.	.	.	.	.	T	0.17152	0.0412	L	0.29908	0.895	0.09310	N	1	B	0.34290	0.447	B	0.17433	0.018	T	0.12760	-1.0535	9	0.87932	D	0	-4.7199	6.1144	0.20117	0.0:0.0:0.6969:0.303	.	577	Q96M63	CC114_HUMAN	M	577	ENSP00000318429:T577M	ENSP00000318429:T577M	T	-	2	0	CCDC114	53492328	0.003000	0.15002	0.002000	0.10522	0.003000	0.03518	0.881000	0.28173	0.152000	0.19188	0.561000	0.74099	ACG	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343207.1		-	ENST00000315396.7	Missense_Mutation	SNP	19 : 48800516 - 48800516 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	362	69
CDH26	60437	broad.mit.edu	37	20	58569448	58569448	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58569448G>A	ENST00000348616.4	+	11	1870	c.1570G>A	c.(1570-1572)Gat>Aat	p.D524N	CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000244047.5_Missense_Mutation_p.D524N	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	524					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CGAGGCAGAGGATCCGGACCT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	66	67			NA	NA	20		NA											NA				58569448		2203	4300	6503	SO:0001583	missense			AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215	60437	60437		Cadherins / Major cadherins	15902	protein-coding gene	gene with protein product			cadherin-like 26		NA		Standard	NM_177980	NM_177980	NA	Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000348616.4:c.1570G>A	20.37:g.58569448G>A	ENSP00000339390:p.Asp524Asn	NA	A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	37	CCDS13485.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.089308	0.76756	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.78003	-1.14;-1.14	4.35	3.4	0.38934	Cadherin-like (1);	0.000000	0.64402	D	0.000001	D	0.88731	0.6516	M	0.89715	3.055	0.09310	N	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81136	-0.1070	10	0.87932	D	0	.	10.9183	0.47150	0.0947:0.0:0.9053:0.0	.	524;524	Q8IXH8;Q8IXH8-4	CAD26_HUMAN;.	N	524	ENSP00000244047:D524N;ENSP00000339390:D524N	ENSP00000244047:D524N	D	+	1	0	CDH26	58002843	0.998000	0.40836	0.003000	0.11579	0.370000	0.29829	4.005000	0.57075	0.809000	0.34255	0.655000	0.94253	GAT	CDH26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079933.2		+	ENST00000348616.4	Missense_Mutation	SNP	20 : 58569448 - 58569448 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	295	17
CD274	29126	broad.mit.edu	37	9	5467858	5467858	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5467858C>T	ENST00000381577.3	+	7	955	c.869C>T	c.(868-870)aCg>aTg	p.T290M	CD274_ENST00000498261.1_3'UTR|CD274_ENST00000381573.4_Missense_Mutation_p.T176M	NM_014143.3	NP_054862.1	Q9NZQ7	PD1L1_HUMAN	CD274 molecule	290					cell proliferation|cell surface receptor linked signaling pathway|immune response|T cell costimulation	endomembrane system|integral to membrane	receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		TTGGAGGAGACGTAATCCAGC	0.423		NA	T	CIITA	PMBL, Hodgkin Lymphona, 									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		9	9p24	29126	CD274 molecule		L	0								C	MET/THR	0,4406		0,0,2203	98	85	89		869	3.3	1	9		89	1,8599	1.2+/-3.3	0,1,4299	no	missense	CD274	NM_014143.3	81	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	290/291	5467858	1,13005	2203	4300	6503	SO:0001583	missense			AF177937	CCDS6464.1, CCDS59118.1	9p24.1	2014-01-30	2006-03-28	2005-02-25	ENSG00000120217	ENSG00000120217	29126	29126		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Endogenous ligands	17635	protein-coding gene	gene with protein product	B7 homolog 1	605402	programmed cell death 1 ligand 1, CD274 antigen	PDCD1LG1	NA	11015443, 10581077	Standard	NM_014143	NM_014143	NA	Approved	B7-H, B7H1, PD-L1, PDL1, B7-H1	uc003zje.3	Q9NZQ7	OTTHUMG00000019503	ENST00000381577.3:c.869C>T	9.37:g.5467858C>T	ENSP00000370989:p.Thr290Met	NA	B2RBA2|B4DU27|Q14CJ2|Q66RK1|Q6WEX4|Q9NUZ5	37	CCDS6464.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.918869	0.52546	0.0	1.16E-4	ENSG00000120217	ENST00000381573;ENST00000381577	T;T	0.37584	1.19;5.04	4.21	3.27	0.37495	.	.	.	.	.	T	0.48187	0.1486	L	0.44542	1.39	0.32055	N	0.596435	D;D	0.89917	1.0;0.998	D;P	0.83275	0.996;0.791	T	0.54977	-0.8212	9	0.87932	D	0	-29.1992	7.9256	0.29872	0.0:0.8728:0.0:0.1272	.	176;290	Q2V8D5;Q9NZQ7	.;PD1L1_HUMAN	M	176;290	ENSP00000370985:T176M;ENSP00000370989:T290M	ENSP00000370985:T176M	T	+	2	0	CD274	5457858	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	1.939000	0.40213	1.010000	0.39314	0.491000	0.48974	ACG	CD274-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051631.2		+	ENST00000381577.3	Missense_Mutation	SNP	9 : 5467858 - 5467858 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	318	43
SPHKAP	80309	broad.mit.edu	37	2	228882946	228882946	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228882946G>A	ENST00000392056.3	-	7	2670	c.2624C>T	c.(2623-2625)gCt>gTt	p.A875V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A875V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	875						cytoplasm	protein binding	p.A875D(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACTCTCCTCAGCCTCCTGGGA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(2)											504	485	491			NA	NA	2		NA											NA				228882946		2203	4300	6503	SO:0001583	missense				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820	80309	80309		A-kinase anchor proteins	30619	protein-coding gene	gene with protein product	sphingosine kinase type 1-interacting protein	611646			NA	12080051, 11214970	Standard	NM_030623	NM_030623	NA	Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2624C>T	2.37:g.228882946G>A	ENSP00000375909:p.Ala875Val	NA	Q68DA3|Q68DR8|Q9C0I5	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	6.036	0.374956	0.11409	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12039	2.72;2.72	5.91	0.762	0.18454	.	0.872320	0.10307	N	0.690431	T	0.10208	0.0250	L	0.54323	1.7	0.09310	N	1	B;P	0.39424	0.03;0.673	B;B	0.33254	0.008;0.16	T	0.25537	-1.0129	10	0.33940	T	0.23	0.2528	2.6393	0.04966	0.1281:0.2277:0.4097:0.2346	.	875;875	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	V	875	ENSP00000375909:A875V;ENSP00000339886:A875V	ENSP00000339886:A875V	A	-	2	0	SPHKAP	228591190	0.003000	0.15002	0.000000	0.03702	0.054000	0.15201	1.011000	0.29911	0.105000	0.17753	-0.175000	0.13238	GCT	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331750.1		-	ENST00000392056.3	Missense_Mutation	SNP	2 : 228882946 - 228882946 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1232	204
NCDN	23154	broad.mit.edu	37	1	36028103	36028103	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36028103G>A	ENST00000373243.2	+	4	1637	c.1254G>A	c.(1252-1254)ctG>ctA	p.L418L	NCDN_ENST00000356090.4_Silent_p.L418L|NCDN_ENST00000373253.3_Silent_p.L401L	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	418					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCCAGCTGCTGCCCTTCCTCG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	114	122			NA	NA	1		NA											NA				36028103		2203	4300	6503	SO:0001819	synonymous_variant			AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129	23154	23154			17597	protein-coding gene	gene with protein product		608458			NA	15007648	Standard	NM_014284	NM_014284	NA	Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1254G>A	1.37:g.36028103G>A		NA	D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	37	CCDS392.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284619	0.23392	.	.	ENSG00000020129	ENST00000423723	.	.	.	4.8	3.89	0.44902	.	.	.	.	.	T	0.60327	0.2260	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57705	-0.7765	4	.	.	.	.	10.1781	0.42950	0.0909:0.0:0.9091:0.0	.	.	.	.	Y	12	.	.	C	+	2	0	NCDN	35800690	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.389000	0.44407	1.257000	0.44085	0.561000	0.74099	TGC	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131298.1		+	ENST00000373243.2	Silent	SNP	1 : 36028103 - 36028103 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	267	33
PKHD1	5314	broad.mit.edu	37	6	51771115	51771115	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:51771115C>T	ENST00000371117.3	-	41	6981	c.6706G>A	c.(6706-6708)Gtg>Atg	p.V2236M	PKHD1_ENST00000340994.4_Missense_Mutation_p.V2236M	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2236					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAGTTCCTCACTGTGCAGCCC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	69	69			NA	NA	6		NA											NA				51771115		2203	4300	6503	SO:0001583	missense			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927	5314	5314			9016	protein-coding gene	gene with protein product	tigmin, polyductin, fibrocystin	606702	TIG multiple domains 1	TIGM1	NA	9503014	Standard	NM_138694	NM_138694	NA	Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.6706G>A	6.37:g.51771115C>T	ENSP00000360158:p.Val2236Met	NA	Q5VUA2|Q5VUA3|Q5VWV1|Q8TCZ9	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.675254	0.47781	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.92647	-3.08;-3.08	5.25	1.4	0.22301	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.197660	0.35207	N	0.003363	D	0.89715	0.6795	M	0.77103	2.36	0.09310	N	1	D;P	0.56968	0.978;0.894	P;B	0.53593	0.73;0.437	D	0.83848	0.0261	10	0.51188	T	0.08	.	8.7278	0.34480	0.0:0.6892:0.0:0.3108	.	2236;2236	P08F94-2;P08F94	.;PKHD1_HUMAN	M	2236	ENSP00000360158:V2236M;ENSP00000341097:V2236M	ENSP00000341097:V2236M	V	-	1	0	PKHD1	51879074	0.008000	0.16893	0.004000	0.12327	0.118000	0.20060	0.111000	0.15458	0.215000	0.20761	-0.136000	0.14681	GTG	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040893.1		-	ENST00000371117.3	Missense_Mutation	SNP	6 : 51771115 - 51771115 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	406	70
PIEZO2	63895	broad.mit.edu	37	18	10697835	10697835	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:10697835A>C	ENST00000302079.6	-	41	6398	c.6399T>G	c.(6397-6399)gtT>gtG	p.V2133V	PIEZO2_ENST00000538948.1_Silent_p.V90V|PIEZO2_ENST00000503781.3_Silent_p.V2133V|PIEZO2_ENST00000580640.1_Silent_p.V2158V|PIEZO2_ENST00000285141.4_5'UTR			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2133	Ser-rich.					integral to membrane	ion channel activity				NA						TAATACTCAAAACACTGCTTC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	105	108			NA	NA	18		NA											NA				10697835		2202	4300	6502	SO:0001819	synonymous_variant			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864	63895	63895			26270	protein-coding gene	gene with protein product		613629	chromosome 18 open reading frame 30, chromosome 18 open reading frame 58, family with sequence similarity 38, member B	FAM38B2, C18orf30, C18orf58, FAM38B	NA	20813920, 21056836, 21299953	Standard	NM_022068	NM_022068	NA	Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000302079.6:c.6399T>G	18.37:g.10697835A>C		NA	B7Z812|Q8N787|Q8NAR6|Q9H5R4	37																																																																																				PIEZO2-007	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000254528.5		-	ENST00000302079.6	Silent	SNP	18 : 10697835 - 10697835 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	192	30
RUFY3	22902	broad.mit.edu	37	4	71650581	71650581	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71650581G>T	ENST00000226328.4	+	10	1619	c.1056G>T	c.(1054-1056)gaG>gaT	p.E352D	RUFY3_ENST00000536664.1_Missense_Mutation_p.E336D|RUFY3_ENST00000417478.2_Missense_Mutation_p.E412D|RUFY3_ENST00000502653.1_Missense_Mutation_p.E299D|RUFY3_ENST00000381006.3_Missense_Mutation_p.E352D	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	352					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			TAAAAGAAGAGACACAATTAC	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	60	62			NA	NA	4		NA											NA				71650581		2203	4300	6503	SO:0001583	missense			AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189	22902	22902		Zinc fingers, FYVE domain containing	30285	protein-coding gene	gene with protein product	single axon-related 1	611194			NA	17439943	Standard	NM_014961	NM_001130709	NA	Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.1056G>T	4.37:g.71650581G>T	ENSP00000226328:p.Glu352Asp	NA	B3KM25|B4DYW7|D9N163|O94948|Q9UI00	37	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.179929	0.57800	.	.	ENSG00000018189	ENST00000417478;ENST00000381006;ENST00000226328;ENST00000536664;ENST00000502653	T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49	5.75	2.09	0.27110	.	0.000000	0.85682	D	0.000000	T	0.30135	0.0755	L	0.61218	1.895	0.58432	D	0.999993	B;D;D;D	0.89917	0.362;1.0;0.984;0.957	B;D;D;P	0.76071	0.217;0.987;0.935;0.723	T	0.01280	-1.1397	10	0.62326	D	0.03	-28.1233	10.1524	0.42803	0.3772:0.0:0.6228:0.0	.	336;352;352;412	B4DKC2;Q7L099-3;Q7L099;Q7L099-2	.;.;RUFY3_HUMAN;.	D	412;352;352;336;299	ENSP00000399771:E412D;ENSP00000370394:E352D;ENSP00000226328:E352D;ENSP00000443652:E336D;ENSP00000425400:E299D	ENSP00000226328:E352D	E	+	3	2	RUFY3	71869445	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	1.523000	0.35932	0.460000	0.27045	0.650000	0.86243	GAG	RUFY3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252161.2		+	ENST00000226328.4	Missense_Mutation	SNP	4 : 71650581 - 71650581 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	102	16
TMSB10	9168	broad.mit.edu	37	2	85133188	85133188	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85133188C>T	ENST00000233143.4	+	2	156	c.47C>T	c.(46-48)gCc>gTc	p.A16V		NM_021103.3	NP_066926.1	P63313	TYB10_HUMAN	thymosin beta 10	16					actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding			endometrium(1)	1						TTCGATAAGGCCAAGCTGAAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	69	68			NA	NA	2		NA											NA				85133188		2203	4300	6503	SO:0001583	missense				CCDS1970.1	2p11.2	2008-02-25	2008-02-25		ENSG00000034510	ENSG00000034510	9168	9168			11879	protein-coding gene	gene with protein product		188399			NA	3365256, 10487837	Standard	NM_021103	NM_021103	NA	Approved	TB10	uc002sow.1	P63313	OTTHUMG00000130027	ENST00000233143.4:c.47C>T	2.37:g.85133188C>T	ENSP00000233143:p.Ala16Val	NA	P13472	37	CCDS1970.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516068	0.64634	.	.	ENSG00000034510	ENST00000233143	T	0.47177	0.85	5.3	5.3	0.74995	.	0.158802	0.40908	D	0.000995	T	0.43590	0.1254	.	.	.	0.40631	D	0.981859	P	0.38300	0.626	B	0.37650	0.255	T	0.42999	-0.9418	9	0.42905	T	0.14	.	16.4497	0.83976	0.0:1.0:0.0:0.0	.	16	P63313	TYB10_HUMAN	V	16	ENSP00000233143:A16V	ENSP00000233143:A16V	A	+	2	0	TMSB10	84986699	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.760000	0.55235	2.486000	0.83907	0.561000	0.74099	GCC	TMSB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252302.2		+	ENST00000233143.4	Missense_Mutation	SNP	2 : 85133188 - 85133188 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	288	34
VSTM2A	222008	broad.mit.edu	37	7	54612463	54612463	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:54612463C>T	ENST00000404951.1	+	2	543	c.228C>T	c.(226-228)gcC>gcT	p.A76A	VSTM2A_ENST00000407838.3_Silent_p.A76A|VSTM2A_ENST00000402026.2_Silent_p.A75A|VSTM2A_ENST00000302287.3_Silent_p.A76A|VSTM2A_ENST00000402613.3_Silent_p.A76A			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	76	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			ATCCCGGGGCCGAGGGGGCCG	0.736		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	16	15			NA	NA	7		NA											NA				54612463		2194	4294	6488	SO:0001819	synonymous_variant			BC028404	CCDS5512.2, CCDS75604.1	7p11.2	2013-01-11	2007-08-10	2007-08-10	ENSG00000170419	ENSG00000170419	222008	222008		Immunoglobulin superfamily / V-set domain containing	28499	protein-coding gene	gene with protein product			V-set and transmembrane domain containing 2	VSTM2	NA	12477932	Standard	NM_182546	XM_006715663	NA	Approved	MGC33530	uc010kzf.3	Q8TAG5	OTTHUMG00000129271	ENST00000404951.1:c.228C>T	7.37:g.54612463C>T		NA	A4D2E9|B5MC94	37																																																																																				VSTM2A-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000318693.1		+	ENST00000404951.1	Silent	SNP	7 : 54612463 - 54612463 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	154	53
GRIN3A	116443	broad.mit.edu	37	9	104390655	104390655	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104390655A>C	ENST00000361820.3	-	4	2981	c.2381T>G	c.(2380-2382)tTt>tGt	p.F794C		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	794					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GACAGTTCCAAAGCGGAATCC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	86	90			NA	NA	9		NA											NA				104390655		2203	4300	6503	SO:0001583	missense				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785	116443	116443		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	16767	protein-coding gene	gene with protein product		606650			NA		Standard		NM_133445	NA	Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2381T>G	9.37:g.104390655A>C	ENSP00000355155:p.Phe794Cys	NA	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	37	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.174941	0.78564	.	.	ENSG00000198785	ENST00000361820	T	0.27256	1.68	5.85	5.85	0.93711	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.52435	0.1734	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52749	-0.8534	10	0.49607	T	0.09	.	16.2421	0.82418	1.0:0.0:0.0:0.0	.	794	Q8TCU5	NMD3A_HUMAN	C	794	ENSP00000355155:F794C	ENSP00000355155:F794C	F	-	2	0	GRIN3A	103430476	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.962000	0.93254	2.234000	0.73211	0.533000	0.62120	TTT	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053453.1		-	ENST00000361820.3	Missense_Mutation	SNP	9 : 104390655 - 104390655 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	60
IBSP	3381	broad.mit.edu	37	4	88731834	88731834	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88731834C>A	ENST00000226284.5	+	6	390	c.323C>A	c.(322-324)tCt>tAt	p.S108Y		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	108	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		ACCACACTTTCTGCTACAACA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	126	126			NA	NA	4		NA											NA				88731834		2203	4300	6503	SO:0001583	missense				CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559	3381	3381			5341	protein-coding gene	gene with protein product	bone sialoprotein, bone sialoprotein II	147563			NA	8406493	Standard		NM_004967	NA	Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.323C>A	4.37:g.88731834C>A	ENSP00000226284:p.Ser108Tyr	NA		37	CCDS3624.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.048949	0.55110	.	.	ENSG00000029559	ENST00000226284	T	0.16073	2.37	5.23	4.36	0.52297	.	0.450652	0.21382	N	0.075451	T	0.38427	0.1040	M	0.73598	2.24	0.09310	N	1	D	0.63046	0.992	D	0.63877	0.919	T	0.19063	-1.0317	10	0.72032	D	0.01	.	11.8883	0.52615	0.0:0.8238:0.1762:0.0	.	108	P21815	SIAL_HUMAN	Y	108	ENSP00000226284:S108Y	ENSP00000226284:S108Y	S	+	2	0	IBSP	88950858	0.124000	0.22315	0.061000	0.19648	0.132000	0.20833	1.984000	0.40658	1.274000	0.44362	0.591000	0.81541	TCT	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253050.2		+	ENST00000226284.5	Missense_Mutation	SNP	4 : 88731834 - 88731834 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	701	128
PRDM15	63977	broad.mit.edu	37	21	43236126	43236126	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43236126C>T	ENST00000422911.1	-	20	2599	c.2498G>A	c.(2497-2499)tGc>tAc	p.C833Y	PRDM15_ENST00000447207.2_Missense_Mutation_p.C776Y|PRDM15_ENST00000538201.1_Missense_Mutation_p.C796Y|PRDM15_ENST00000269844.3_Missense_Mutation_p.C1142Y|PRDM15_ENST00000398548.1_Missense_Mutation_p.C813Y	NM_001282934.1	NP_001269863.1	P57071	PRD15_HUMAN	PR domain containing 15	1142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GCACTCCTTGCACTCGTACTC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	124	144			NA	NA	21		NA											NA				43236126		2203	4300	6503	SO:0001583	missense			AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956	63977	63977		Zinc fingers, C2H2-type	13999	protein-coding gene	gene with protein product			chromosome 21 open reading frame 83	ZNF298, C21orf83	NA	12036297, 12036298	Standard	NM_022115	NM_022115	NA	Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000422911.1:c.2498G>A	21.37:g.43236126C>T	ENSP00000408592:p.Cys833Tyr	NA	Q8N0X3|Q8NEX0|Q9NQV3	37		.	.	.	.	.	.	.	.	.	.	c	25.4	4.636198	0.87760	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94	4.49	4.49	0.54785	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95993	0.8695	H	0.99404	4.55	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.998;0.985	D	0.98285	1.0510	9	0.87932	D	0	-24.7482	16.2106	0.82151	0.0:1.0:0.0:0.0	.	1142;833;813	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	Y	833;813;796;776;1142	ENSP00000408592:C833Y;ENSP00000381556:C813Y;ENSP00000444044:C796Y;ENSP00000390245:C776Y;ENSP00000269844:C1142Y	ENSP00000269844:C1142Y	C	-	2	0	PRDM15	42109195	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.413000	0.80104	2.048000	0.60808	0.645000	0.84053	TGC	PRDM15-010	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000195240.4		-	ENST00000422911.1	Missense_Mutation	SNP	21 : 43236126 - 43236126 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	429	44
GPKOW	27238	broad.mit.edu	37	X	48972297	48972297	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48972297C>T	ENST00000156109.5	-	8	1166	c.1088G>A	c.(1087-1089)cGt>cAt	p.R363H		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	363						nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						AAACCGCACACGCAGGTCCCT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	57	61			NA	NA	X		NA											NA				48972297		2203	4300	6503	SO:0001583	missense			U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394	27238	27238		G patch domain containing	30677	protein-coding gene	gene with protein product	G patch domain containing 5				NA	21880142, 22365833	Standard	NM_015698	NM_015698	NA	Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.1088G>A	X.37:g.48972297C>T	ENSP00000156109:p.Arg363His	NA	Q59EK5|Q9BQA8	37	CCDS35251.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946815	0.53186	.	.	ENSG00000068394	ENST00000156109	.	.	.	5.49	3.7	0.42460	.	0.176102	0.47093	N	0.000246	T	0.73024	0.3534	M	0.87900	2.915	0.37697	D	0.924083	D	0.89917	1.0	D	0.71656	0.974	T	0.73241	-0.4045	9	0.23302	T	0.38	-2.0599	7.6099	0.28124	0.163:0.7496:0.0:0.0874	.	363	Q92917	GPKOW_HUMAN	H	363	.	ENSP00000156109:R363H	R	-	2	0	GPKOW	48859241	0.980000	0.34600	0.132000	0.22025	0.518000	0.34316	2.514000	0.45503	0.593000	0.29745	-0.217000	0.12591	CGT	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056535.2		-	ENST00000156109.5	Missense_Mutation	SNP	X : 48972297 - 48972297 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	122	41
FAT3	120114	broad.mit.edu	37	11	92534276	92534276	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92534276G>A	ENST00000525166.1	+	9	7669	c.7647G>A	c.(7645-7647)ttG>ttA	p.L2549L	FAT3_ENST00000298047.6_Silent_p.L2699L|FAT3_ENST00000409404.2_Silent_p.L2699L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2699	Cadherin 23.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCCACGTCTTGCCCCCTGAAA	0.463		NA								TCGA Ovarian(4;0.039)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	66	67			NA	NA	11		NA											NA				92534276		1960	4149	6109	SO:0001819	synonymous_variant			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323	120114	120114		Cadherins / Cadherin-related	23112	protein-coding gene	gene with protein product	cadherin-related family member 10	612483	FAT tumor suppressor homolog 3 (Drosophila)		NA	11811999	Standard	NM_001008781	NM_001008781	NA	Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000525166.1:c.7647G>A	11.37:g.92534276G>A		NA	B5MDB0|Q96AU6	37																																																																																				FAT3-001	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000335363.3		+	ENST00000525166.1	Silent	SNP	11 : 92534276 - 92534276 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	33
GRIK2	2898	broad.mit.edu	37	6	102074437	102074437	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:102074437C>A	ENST00000369138.1	+	3	956	c.466C>A	c.(466-468)Ctc>Atc	p.L156I	GRIK2_ENST00000369134.4_Missense_Mutation_p.L107I|GRIK2_ENST00000421544.1_Missense_Mutation_p.L156I|GRIK2_ENST00000369137.3_Missense_Mutation_p.L156I|GRIK2_ENST00000318991.6_Missense_Mutation_p.L156I|GRIK2_ENST00000413795.1_Missense_Mutation_p.L156I|GRIK2_ENST00000358361.3_Missense_Mutation_p.L156I	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	156					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	CTTCTCTTCACTCAGCCGTGC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	96	96			NA	NA	6		NA											NA				102074437		2203	4300	6503	SO:0001583	missense				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418	2898	2898		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4580	protein-coding gene	gene with protein product		138244		GLUR6	NA	8034316	Standard		NM_021956	NA	Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000369138.1:c.466C>A	6.37:g.102074437C>A	ENSP00000358134:p.Leu156Ile	NA	A6NMY9|B5MCV0|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	37	CCDS55045.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.352039	0.41700	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000358361;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076	D;D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	5.79	4.91	0.64330	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.69486	0.3116	L	0.31752	0.955	0.40380	D	0.979436	B;B;B	0.11235	0.003;0.004;0.003	B;B;B	0.30401	0.07;0.115;0.049	T	0.65265	-0.6210	10	0.19590	T	0.45	.	16.1759	0.81851	0.1345:0.8655:0.0:0.0	.	156;156;156	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	I	156;156;156;156;156;156;156;107;118	ENSP00000397026:L156I;ENSP00000405596:L156I;ENSP00000358134:L156I;ENSP00000351128:L156I;ENSP00000358133:L156I;ENSP00000313276:L156I;ENSP00000358130:L107I	ENSP00000313276:L156I	L	+	1	0	GRIK2	102181130	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.541000	0.60670	1.404000	0.46819	0.655000	0.94253	CTC	GRIK2-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043720.1		+	ENST00000369138.1	Missense_Mutation	SNP	6 : 102074437 - 102074437 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	461	83
ATXN2L	11273	broad.mit.edu	37	16	28837664	28837664	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28837664T>G	ENST00000564304.1	+	5	734	c.569T>G	c.(568-570)gTc>gGc	p.V190G	ATXN2L_ENST00000382686.4_Missense_Mutation_p.V190G|ATXN2L_ENST00000336783.4_Missense_Mutation_p.V190G|ATXN2L_ENST00000325215.6_Missense_Mutation_p.V190G|ATXN2L_ENST00000570200.1_Missense_Mutation_p.V190G|ATXN2L_ENST00000340394.8_Missense_Mutation_p.V190G|ATXN2L_ENST00000395547.2_Missense_Mutation_p.V190G			Q8WWM7	ATX2L_HUMAN	ataxin 2-like	190						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCAAGTGATGTCATGCTTGTT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													247	202	217			NA	NA	16		NA											NA				28837664		2197	4300	6497	SO:0001583	missense				CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488	11273	11273			31326	protein-coding gene	gene with protein product		607931			NA	11784712, 14769358	Standard	NM_007245	NM_007245	NA	Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000564304.1:c.569T>G	16.37:g.28837664T>G	ENSP00000457613:p.Val190Gly	NA	B9EGM2|O95135|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	37		.	.	.	.	.	.	.	.	.	.	.	28.8	4.948541	0.92593	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000359153;ENST00000382686;ENST00000325215	T;T;T;T;T	0.52057	0.7;0.68;0.69;0.7;0.69	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000004	T	0.64260	0.2582	L	0.55990	1.75	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.998;0.999;0.998;0.998;0.998;0.998;0.998;0.998	D;D;D;D;D;D;D;D	0.74023	0.969;0.929;0.982;0.982;0.969;0.969;0.982;0.969	T	0.66945	-0.5795	10	0.87932	D	0	-16.5268	15.0745	0.72066	0.0:0.0:0.0:1.0	.	190;190;190;190;190;190;190;190	Q8WWM7-6;Q8WWM7-5;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;.;ATX2L_HUMAN;.;.;.;.	G	190	ENSP00000341459:V190G;ENSP00000378917:V190G;ENSP00000338718:V190G;ENSP00000372133:V190G;ENSP00000315650:V190G	ENSP00000315650:V190G	V	+	2	0	ATXN2L	28745165	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.597000	0.82733	2.201000	0.70794	0.459000	0.35465	GTC	ATXN2L-008	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000432048.1		+	ENST00000564304.1	Missense_Mutation	SNP	16 : 28837664 - 28837664 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	560	93
ZNF532	55205	broad.mit.edu	37	18	56585789	56585789	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56585789T>C	ENST00000336078.4	+	4	1046	c.270T>C	c.(268-270)caT>caC	p.H90H	ZNF532_ENST00000591083.1_Silent_p.H90H|ZNF532_ENST00000589288.1_Silent_p.H90H|ZNF532_ENST00000591808.1_Silent_p.H90H|ZNF532_ENST00000591230.1_Silent_p.H90H	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						ATGGCTTACATAATGGGTTTC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	75	80			NA	NA	18		NA											NA				56585789		2203	4300	6503	SO:0001819	synonymous_variant			AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657	55205	55205		Zinc fingers, C2H2-type	30940	protein-coding gene	gene with protein product					NA	10997877	Standard	NM_018181	XM_005266723	NA	Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.270T>C	18.37:g.56585789T>C		NA	Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	37	CCDS11969.1																																																																																			ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256130.1		+	ENST00000336078.4	Silent	SNP	18 : 56585789 - 56585789 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	258	44
KDELC1	79070	broad.mit.edu	37	13	103441551	103441551	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103441551G>A	ENST00000376004.4	-	7	1440	c.1104C>T	c.(1102-1104)atC>atT	p.I368I	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	368						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CAGTGCCATCGATATTTATTT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	87	87			NA	NA	13		NA											NA				103441551		2203	4300	6503	SO:0001819	synonymous_variant			BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901	79070	79070			19350	protein-coding gene	gene with protein product		611613			NA		Standard		NM_024089	NA	Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.1104C>T	13.37:g.103441551G>A		NA	Q53HL3|Q9BVD2	37	CCDS9504.1																																																																																			KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045699.1		-	ENST00000376004.4	Silent	SNP	13 : 103441551 - 103441551 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	332	53
TAF15	8148	broad.mit.edu	37	17	34147406	34147406	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34147406C>T	ENST00000588240.1	+	5	370	c.255C>T	c.(253-255)aaC>aaT	p.N85N	AC015849.19_ENST00000588415.1_RNA|TAF15_ENST00000592237.1_5'UTR|TAF15_ENST00000311979.3_Silent_p.N82N|AC015849.13_ENST00000589356.1_RNA	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	85	Gln/Gly/Ser/Tyr-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		CATATAATAACCAGGGACAGC	0.358		NA	T	TEC, CHN1, ZNF384	extraskeletal myxoid chondrosarcomas, ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		17	17q11.1-q11.2	8148	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa		L, M	0													93	93	93			NA	NA	17		NA											NA				34147406		2203	4300	6503	SO:0001819	synonymous_variant			U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647	8148	8148		RNA binding motif (RRM) containing	11547	protein-coding gene	gene with protein product		601574	TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)	TAF2N	NA	8954779, 9795213	Standard	NM_139215	NM_003487	NA	Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.255C>T	17.37:g.34147406C>T		NA	B2R837|Q92751	37	CCDS32623.1																																																																																			TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449134.1		+	ENST00000588240.1	Silent	SNP	17 : 34147406 - 34147406 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	448	77
PADI4	23569	broad.mit.edu	37	1	17674450	17674450	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17674450C>T	ENST00000375448.4	+	10	1088	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	PADI4_ENST00000487048.1_3'UTR|AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	354					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	AAATGGAGATCGGCTACATCC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	88	94			NA	NA	1		NA											NA				17674450		2203	4300	6503	SO:0001819	synonymous_variant			AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	23569	23569	3.5.3.15	Peptidyl arginine deiminases	18368	protein-coding gene	gene with protein product		605347	peptidyl arginine deiminase, type V	PADI5	NA	10488123	Standard	NM_012387	NM_012387	NA	Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.1062C>T	1.37:g.17674450C>T		NA	Q5VTZ8|Q70SX4	37	CCDS180.1																																																																																			PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006799.1		+	ENST00000375448.4	Silent	SNP	1 : 17674450 - 17674450 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	235	17
CHD8	57680	broad.mit.edu	37	14	21863231	21863231	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21863231C>T	ENST00000557364.1	-	30	5493	c.5230G>A	c.(5230-5232)Gcc>Acc	p.A1744T	CHD8_ENST00000430710.3_Missense_Mutation_p.A1465T|CHD8_ENST00000399982.2_Missense_Mutation_p.A1744T|CHD8_ENST00000555962.1_5'UTR			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1744					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GCTGTTAGGGCAGAGCCCGGA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	36	36			NA	NA	14		NA											NA				21863231		1916	4130	6046	SO:0001583	missense			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888	57680	57680			20153	protein-coding gene	gene with protein product		610528	helicase with SNF2 domain 1	HELSNF1	NA	10997877	Standard	NM_020920	NM_020920	NA	Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.5230G>A	14.37:g.21863231C>T	ENSP00000451601:p.Ala1744Thr	NA	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	37	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432580	0.62844	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	T;T;T	0.79554	-1.28;-1.28;-1.28	6.07	6.07	0.98685	.	0.059716	0.64402	D	0.000002	T	0.76716	0.4026	L	0.39020	1.185	0.50467	D	0.99987	B	0.32128	0.357	B	0.36186	0.219	T	0.71224	-0.4656	10	0.25751	T	0.34	-17.1232	19.4308	0.94765	0.0:1.0:0.0:0.0	.	1465	Q9HCK8-2	.	T	1465;1744;1464;1744	ENSP00000406288:A1465T;ENSP00000382863:A1744T;ENSP00000451601:A1744T	ENSP00000262707:A1464T	A	-	1	0	CHD8	20933071	0.762000	0.28451	1.000000	0.80357	0.995000	0.86356	1.501000	0.35693	2.885000	0.99019	0.655000	0.94253	GCC	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410436.1		-	ENST00000557364.1	Missense_Mutation	SNP	14 : 21863231 - 21863231 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	167	13
TWF2	11344	broad.mit.edu	37	3	52266028	52266028	+	Missense_Mutation	SNP	G	G	A	rs35114109		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52266028G>A	ENST00000499914.2	-	3	339	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	TWF2_ENST00000305533.5_Missense_Mutation_p.R72C|TLR9_ENST00000597542.1_5'UTR					twinfilin actin-binding protein 2	NA										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GAGTCGAGGCGGTAGAGCAGG	0.647		NA									OREG0015610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	82	84			NA	NA	3		NA											NA				52266028		2203	4300	6503	SO:0001583	missense			Y17169	CCDS2849.1	3p21.1	2013-04-25	2013-04-25	2006-11-13	ENSG00000247596	ENSG00000247596	11344	11344			9621	protein-coding gene	gene with protein product		607433	protein tyrosine kinase 9-like (A6-related protein), PTK9L protein tyrosine kinase 9-like (A6-related protein), twinfilin, actin-binding protein, homolog 2 (Drosophila)	PTK9L	NA	10406962, 12807912	Standard		NM_007284	NA	Approved	A6RP, A6r		Q6IBS0	OTTHUMG00000158105	ENST00000499914.2:c.214C>T	3.37:g.52266028G>A	ENSP00000426464:p.Arg72Cys	983		37		.	.	.	.	.	.	.	.	.	.	G	20.7	4.035583	0.75617	.	.	ENSG00000247596	ENST00000305533;ENST00000499914	T;T	0.38560	1.13;1.13	5.61	5.61	0.85477	Actin-binding, cofilin/tropomyosin type (3);	.	.	.	.	T	0.71660	0.3366	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.74023	0.982;0.932	T	0.76528	-0.2926	9	0.66056	D	0.02	.	19.6089	0.95594	0.0:0.0:1.0:0.0	rs35114109	72;72	D6RG15;Q6IBS0	.;TWF2_HUMAN	C	72	ENSP00000303908:R72C;ENSP00000426464:R72C	ENSP00000303908:R72C	R	-	1	0	TWF2	52241068	1.000000	0.71417	1.000000	0.80357	0.039000	0.13416	7.880000	0.87243	2.644000	0.89710	0.455000	0.32223	CGC	TWF2-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000367018.1		-	ENST00000499914.2	Missense_Mutation	SNP	3 : 52266028 - 52266028 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	409	82
MET	4233	broad.mit.edu	37	7	116339490	116339490	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116339490A>C	ENST00000397752.3	+	2	552	c.352A>C	c.(352-354)Atg>Ctg	p.M118L	MET_ENST00000318493.6_Missense_Mutation_p.M118L|MET_ENST00000436117.2_Missense_Mutation_p.M118L	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	MET proto-oncogene, receptor tyrosine kinase	118	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TAACATCAACATGGCTCTAGT	0.488		NA	Mis		papillary renal, head-neck squamous cell 	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0													125	119	121			NA	NA	7		NA											NA				116339490		2017	4188	6205	SO:0001583	missense	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	NA	4233	2.7.10.1		7029	protein-coding gene	gene with protein product	hepatocyte growth factor receptor	164860	met proto-oncogene		NA	1846706, 1611909	Standard		NM_001127500	NA	Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000397752.3:c.352A>C	7.37:g.116339490A>C	ENSP00000380860:p.Met118Leu	NA	O60366|Q12875|Q9UDX7|Q9UPL8	37	CCDS43636.1	.	.	.	.	.	.	.	.	.	.	A	11.63	1.696168	0.30052	.	.	ENSG00000105976	ENST00000437703;ENST00000456159;ENST00000397752;ENST00000318493;ENST00000436117	T;T;T;T	0.04406	3.63;3.63;3.63;3.63	5.6	4.45	0.53987	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.222698	0.52532	N	0.000069	T	0.08670	0.0215	M	0.70275	2.135	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;B;B;B	0.10296	0.001;0.001;0.001;0.003;0.003;0.001;0.003;0.001;0.002;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B	0.17979	0.004;0.012;0.012;0.012;0.012;0.012;0.02;0.012;0.014;0.004;0.012;0.006;0.006	T	0.04053	-1.0981	10	0.42905	T	0.14	.	12.7796	0.57469	0.8516:0.1484:0.0:0.0	.	118;118;118;118;118;118;118;118;118;118;118;118;118	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;B5A940;P08581-2;B5A942;P08581;A1L467	.;.;.;.;.;.;.;.;.;.;.;MET_HUMAN;.	L	137;137;118;118;118	ENSP00000413857:M137L;ENSP00000380860:M118L;ENSP00000317272:M118L;ENSP00000410980:M118L	ENSP00000317272:M118L	M	+	1	0	MET	116126726	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.132000	0.50523	1.059000	0.40554	0.533000	0.62120	ATG	MET-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000141947.3		+	ENST00000397752.3	Missense_Mutation	SNP	7 : 116339490 - 116339490 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	564	22
WFDC1	58189	broad.mit.edu	37	16	84358039	84358039	+	Nonsense_Mutation	SNP	C	C	T	rs148672864	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84358039C>T	ENST00000219454.5	+	5	903	c.577C>T	c.(577-579)Cga>Tga	p.R193*	WFDC1_ENST00000568638.1_Nonsense_Mutation_p.R193*	NM_001282466.1|NM_001282467.1	NP_001269395.1|NP_001269396.1	Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1	193					negative regulation of cell growth	extracellular space	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						GCGAATCCTACGACACAAACT	0.358		NA											C	4	0.0018	0.0041	NA	2184	0.0035	0.9999	,	,	NA	0.002	NA	NA	NA	0.0019	0.9767	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0								C	stop/ARG	14,4386	21.2+/-45.6	0,14,2186	110	107	108		577	-5.5	0	16	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	WFDC1	NM_021197.2		0,15,6485	TT,TC,CC	NA	0.0116,0.3182,0.1154		193/221	84358039	15,12985	2200	4300	6500	SO:0001587	stop_gained			AF302109	CCDS10946.1	16q24.1	2013-01-21			ENSG00000103175	ENSG00000103175	58189	58189		WAP four-disulfide core domain containing	15466	protein-coding gene	gene with protein product		605322			NA	10967136	Standard		NM_021197	NA	Approved	PS20	uc002fhw.3	Q9HC57	OTTHUMG00000137641	ENST00000219454.5:c.577C>T	16.37:g.84358039C>T	ENSP00000219454:p.Arg193*	NA	D3DUL7|Q8NC27|Q9HAU1	37	CCDS10946.1	4	0.0018315018315018315	2	0.0040650406504065045	0	0.0	2	0.0034965034965034965	0	0.0	C	18.33	3.599834	0.66332	0.003182	1.16E-4	ENSG00000103175	ENST00000219454	.	.	.	4.55	-5.54	0.02544	.	0.125962	0.50627	D	0.000102	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5874	13.6663	0.62398	0.765:0.1425:0.0925:0.0	.	.	.	.	X	193	.	ENSP00000219454:R193X	R	+	1	2	WFDC1	82915540	0.204000	0.23447	0.000000	0.03702	0.010000	0.07245	0.265000	0.18515	-0.688000	0.05155	-1.229000	0.01577	CGA	WFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269083.2		+	ENST00000219454.5	Nonsense_Mutation	SNP	16 : 84358039 - 84358039 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	391	84
FGFR1OP	11116	broad.mit.edu	37	6	167416734	167416734	+	Splice_Site	SNP	C	C	T	rs146065090	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:167416734C>T	ENST00000366847.4	+	3	441	c.210C>T	c.(208-210)gaC>gaT	p.D70D	FGFR1OP_ENST00000476078.1_3'UTR|FGFR1OP_ENST00000349556.4_Splice_Site_p.D70D|RP11-517H2.6_ENST00000609590.1_RNA	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner	NA	LisH.				G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation	centrosome|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		ATACCAAAGACGGTAAGATGT	0.294		NA	T	FGFR1	MPD, NHL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		6	6q27	11116	FGFR1 oncogene partner (FOP)		L	0								C	,	0,4406		0,0,2203	68	75	73		210,210	0.3	1	6	dbSNP_134	73	5,8569	3.0+/-9.4	0,5,4282	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	FGFR1OP	NM_007045.2,NM_194429.1	,	0,5,6485	TT,TC,CC	NA	0.0583,0.0,0.0385	,	70/400,70/380	167416734	5,12975	2203	4287	6490	SO:0001630	splice_region_variant			Y18046	CCDS5296.1, CCDS5297.1, CCDS75550.1	6q27	2008-02-05			ENSG00000213066	ENSG00000213066	11116	11116			17012	protein-coding gene	gene with protein product		605392			NA	9949182, 10373756	Standard	NM_007045	NM_007045	NA	Approved	FOP	uc003qvj.3	O95684	OTTHUMG00000016011	ENST00000366847.4:c.211+1C>T	6.37:g.167416734C>T		NA	A8K1D1|B2R705|Q49AI0|Q5R3F6|Q96EW1	37	CCDS5296.1																																																																																			FGFR1OP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043099.2	Silent	+	ENST00000366847.4	Splice_Site	SNP	6 : 167416734 - 167416734 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	249	33
LMAN2	10960	broad.mit.edu	37	5	176764242	176764242	+	Missense_Mutation	SNP	C	C	T	rs142614645		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176764242C>T	ENST00000515209.1	-	6	684	c.685G>A	c.(685-687)Gac>Aac	p.D229N	LMAN2_ENST00000303127.7_Missense_Mutation_p.D229N			Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	229	L-type lectin-like.				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCTCCAGGTCGGTCATCACC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ASN/ASP	0,4406		0,0,2203	97	85	89		685	5.9	1	5	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	no	missense	LMAN2	NM_006816.2	23	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	229/357	176764242	1,13005	2203	4300	6503	SO:0001583	missense			U10362	CCDS4417.1	5q35	2008-02-05		2003-07-04	ENSG00000169223	ENSG00000169223	10960	10960			16986	protein-coding gene	gene with protein product		609551	chromosome 5 open reading frame 8	C5orf8	NA	12609988	Standard	NM_006816	NM_006816	NA	Approved	GP36B, VIP36	uc003mge.3	Q12907	OTTHUMG00000130860	ENST00000515209.1:c.685G>A	5.37:g.176764242C>T	ENSP00000423998:p.Asp229Asn	NA	Q53HH1	37		.	.	.	.	.	.	.	.	.	.	C	26.0	4.693763	0.88735	0.0	1.16E-4	ENSG00000169223	ENST00000303127;ENST00000539488;ENST00000515209;ENST00000502560;ENST00000513877	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.88	5.88	0.94601	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.096018	0.64402	D	0.000001	T	0.77219	0.4098	L	0.46885	1.475	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.67900	0.897;0.954	T	0.72786	-0.4188	10	0.33940	T	0.23	-19.5083	19.8332	0.96644	0.0:1.0:0.0:0.0	.	229;229	Q12907;D6RBV2	LMAN2_HUMAN;.	N	229;158;229;222;158	ENSP00000303366:D229N;ENSP00000423998:D229N;ENSP00000425229:D222N;ENSP00000427377:D158N	ENSP00000303366:D229N	D	-	1	0	LMAN2	176696848	1.000000	0.71417	0.954000	0.39281	0.368000	0.29767	7.423000	0.80229	2.789000	0.95967	0.655000	0.94253	GAC	LMAN2-008	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000372700.1		-	ENST00000515209.1	Missense_Mutation	SNP	5 : 176764242 - 176764242 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	348	47
PCSK5	5125	broad.mit.edu	37	9	78804038	78804038	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:78804038C>T	ENST00000376752.4	+	19	2886	c.2409C>T	c.(2407-2409)tgC>tgT	p.C803C	PCSK5_ENST00000545128.1_Silent_p.C803C	NM_006200.3	NP_006191.2	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	803	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCATTAACTGCACAGAGGGCT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	98	104			NA	NA	9		NA											NA				78804038		2203	4300	6503	SO:0001819	synonymous_variant				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139	5125	5125			8747	protein-coding gene	gene with protein product		600488			NA	7782070	Standard		NM_001190482	NA	Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000376752.4:c.2409C>T	9.37:g.78804038C>T		NA	Q13527|Q96EP4	37	CCDS6652.1																																																																																			PCSK5-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052716.1		+	ENST00000376752.4	Silent	SNP	9 : 78804038 - 78804038 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	357	64
LRIG1	26018	broad.mit.edu	37	3	66436706	66436706	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:66436706C>T	ENST00000383703.3	-	14	2163	c.1560G>A	c.(1558-1560)caG>caA	p.Q520Q	LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_Silent_p.Q496Q|SLC25A26_ENST00000536651.1_3'UTR			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	496	Ig-like C2-type 1.|Poly-Ser.					integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GGGTGATGATCTGTGGCTTCA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	178	178			NA	NA	3		NA											NA				66436706		2203	4300	6503	SO:0001819	synonymous_variant			AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749	26018	26018		Immunoglobulin superfamily / I-set domain containing	17360	protein-coding gene	gene with protein product	ortholog of mouse integral membrane glycoprotein LIG-1, leucine-rich repeat protein LRIG1	608868			NA	11414704, 12234026	Standard	NM_015541	NM_015541	NA	Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000383703.3:c.1560G>A	3.37:g.66436706C>T		NA	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	37																																																																																				LRIG1-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000351931.1		-	ENST00000383703.3	Silent	SNP	3 : 66436706 - 66436706 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	853	184
PPAT	5471	broad.mit.edu	37	4	57266984	57266984	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57266984G>A	ENST00000264220.2	-	8	1117	c.980C>T	c.(979-981)tCt>tTt	p.S327F		NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	327					glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	AGGCGTAGCAGATTCTGGAAC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	142	143			NA	NA	4		NA											NA				57266984		2203	4300	6503	SO:0001583	missense				CCDS3505.1	4q12	2012-10-02			ENSG00000128059	ENSG00000128059	5471	5471	2.4.2.14		9238	protein-coding gene	gene with protein product		172450			NA		Standard	NM_002703	NM_002703	NA	Approved	GPAT, PRAT	uc003hbr.3	Q06203	OTTHUMG00000128842	ENST00000264220.2:c.980C>T	4.37:g.57266984G>A	ENSP00000264220:p.Ser327Phe	NA		37	CCDS3505.1	.	.	.	.	.	.	.	.	.	.	G	31	5.069123	0.93950	.	.	ENSG00000128059	ENST00000264220	D	0.99418	-5.87	5.64	5.64	0.86602	Phosphoribosyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.99768	0.9905	H	0.98646	4.29	0.80722	D	1	D	0.71674	0.998	D	0.66716	0.946	D	0.97111	0.9804	10	0.87932	D	0	-20.5507	19.6933	0.96010	0.0:0.0:1.0:0.0	.	327	Q06203	PUR1_HUMAN	F	327	ENSP00000264220:S327F	ENSP00000264220:S327F	S	-	2	0	PPAT	56961741	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	9.208000	0.95075	2.662000	0.90505	0.637000	0.83480	TCT	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250781.2		-	ENST00000264220.2	Missense_Mutation	SNP	4 : 57266984 - 57266984 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	790	155
FOXN1	8456	broad.mit.edu	37	17	26851664	26851664	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26851664G>T	ENST00000226247.2	+	2	296	c.267G>T	c.(265-267)ggG>ggT	p.G89G	FOXN1_ENST00000579795.1_Silent_p.G89G	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	89					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus 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(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CCGGCCCTGGGCCCTTCAGGC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	27	26			NA	NA	17		NA											NA				26851664		2200	4300	6500	SO:0001819	synonymous_variant			Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101	8456	8456		Forkhead boxes	12765	protein-coding gene	gene with protein product		600838	winged-helix nude, Rowett nude	WHN, RONU	NA	9321431	Standard		NM_003593	NA	Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.267G>T	17.37:g.26851664G>T		NA	B2R9Q7|O15352	37	CCDS11232.1																																																																																			FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255832.1		+	ENST00000226247.2	Silent	SNP	17 : 26851664 - 26851664 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	318	63
CRISP1	167	broad.mit.edu	37	6	49819742	49819742	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:49819742A>C	ENST00000335847.4	-	3	268	c.167T>G	c.(166-168)gTt>gGt	p.V56G	CRISP1_ENST00000507853.1_Missense_Mutation_p.V56G|CRISP1_ENST00000355791.2_Missense_Mutation_p.V56G|CRISP1_ENST00000536021.1_Missense_Mutation_p.V56G|CRISP1_ENST00000329411.5_Missense_Mutation_p.V56G|CRISP1_ENST00000505118.1_Missense_Mutation_p.V56G	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	56					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					GGCTGGTGGAACTACTCTTCT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	162	167			NA	NA	6		NA											NA				49819742		2203	4300	6503	SO:0001583	missense			D38451	CCDS4931.1, CCDS4932.1	6p21.2-p21.1	2008-02-05	2003-09-03	2003-09-05	ENSG00000124812	ENSG00000124812	167	167			304	protein-coding gene	gene with protein product		601193	acidic epididymal glycoprotein-like 1	AEGL1	NA	8838800	Standard	NM_001131	NM_001131	NA	Approved	CRISP-1, ARP, HUMARP, HSCRISP1D, HSCRISP1G	uc003ozw.2	P54107	OTTHUMG00000014827	ENST00000335847.4:c.167T>G	6.37:g.49819742A>C	ENSP00000338276:p.Val56Gly	NA	B5BU98|O00698|Q13248|Q14082|Q96SF6	37	CCDS4931.1	.	.	.	.	.	.	.	.	.	.	A	11.53	1.667597	0.29604	.	.	ENSG00000124812	ENST00000507853;ENST00000335847;ENST00000355791;ENST00000329411;ENST00000505118;ENST00000536021	T;T;T;T;T;T	0.10573	2.86;2.86;2.86;2.86;2.86;2.86	5.06	-2.72	0.05968	CAP domain (3);	2.580360	0.01107	N	0.005496	T	0.01029	0.0034	N	0.03224	-0.385	0.09310	N	1	B;P	0.44521	0.444;0.837	B;B	0.36030	0.086;0.216	T	0.24297	-1.0164	9	.	.	.	.	3.2892	0.06943	0.3582:0.0:0.3343:0.3075	.	56;56	P54107-2;P54107	.;CRIS1_HUMAN	G	56	ENSP00000425020:V56G;ENSP00000338276:V56G;ENSP00000348044:V56G;ENSP00000331317:V56G;ENSP00000427589:V56G;ENSP00000441798:V56G	.	V	-	2	0	CRISP1	49927701	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-3.585000	0.00423	-0.638000	0.05509	-0.256000	0.11100	GTT	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040875.2		-	ENST00000335847.4	Missense_Mutation	SNP	6 : 49819742 - 49819742 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	474	89
EXTL3	2137	broad.mit.edu	37	8	28574109	28574109	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28574109G>A	ENST00000220562.4	+	3	1435	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	178						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CGGGGCTGCCGGCTACACAAC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	76	75			NA	NA	8		NA											NA				28574109		2203	4300	6503	SO:0001583	missense			U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2137	2137	2.4.1.223	Exostosin glycosyltransferase family	3518	protein-coding gene	gene with protein product	REG receptor, glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase	605744	exostoses (multiple)-like 3		NA	9479495, 9450183, 11257457	Standard	NM_001440	NM_001440	NA	Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.533G>A	8.37:g.28574109G>A	ENSP00000220562:p.Arg178Gln	NA	D3DST8|O00225|Q53XT3	37	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.546182	0.45383	.	.	ENSG00000012232	ENST00000220562	D	0.95788	-3.81	5.02	5.02	0.67125	.	0.054165	0.64402	D	0.000001	D	0.91307	0.7259	L	0.27053	0.805	0.58432	D	0.999997	B	0.19200	0.034	B	0.08055	0.003	D	0.87603	0.2498	9	.	.	.	-24.3996	18.403	0.90523	0.0:0.0:1.0:0.0	.	178	O43909	EXTL3_HUMAN	Q	178	ENSP00000220562:R178Q	.	R	+	2	0	EXTL3	28630028	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	9.624000	0.98398	2.348000	0.79779	0.485000	0.47835	CGG	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219987.3		+	ENST00000220562.4	Missense_Mutation	SNP	8 : 28574109 - 28574109 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	565	99
OR6X1	390260	broad.mit.edu	37	11	123624731	123624731	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123624731A>C	ENST00000327930.2	-	1	522	c.496T>G	c.(496-498)Ttc>Gtc	p.F166V		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TTGCCACAGAATGGCAACTGG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	96	96			NA	NA	11		NA											NA				123624731		2202	4299	6501	SO:0001583	missense			AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931	390260	390260		GPCR / Class A : Olfactory receptors	14737	protein-coding gene	gene with protein product					NA		Standard	NM_001005188	NM_001005188	NA	Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.496T>G	11.37:g.123624731A>C	ENSP00000333724:p.Phe166Val	NA	B9EGW9|Q6IFA0	37	CCDS31695.1	.	.	.	.	.	.	.	.	.	.	A	19.15	3.772160	0.69992	.	.	ENSG00000221931	ENST00000327930	T	0.00145	8.67	4.69	4.69	0.59074	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00440	0.0014	M	0.90369	3.11	0.40301	D	0.978608	D	0.53312	0.959	P	0.55508	0.777	T	0.70554	-0.4840	9	0.87932	D	0	-16.1591	12.1541	0.54066	1.0:0.0:0.0:0.0	.	166	Q8NH79	OR6X1_HUMAN	V	166	ENSP00000333724:F166V	ENSP00000333724:F166V	F	-	1	0	OR6X1	123129941	1.000000	0.71417	0.872000	0.34217	0.713000	0.41058	4.554000	0.60760	1.982000	0.57802	0.528000	0.53228	TTC	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387436.1		-	ENST00000327930.2	Missense_Mutation	SNP	11 : 123624731 - 123624731 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	504	89
SRBD1	55133	broad.mit.edu	37	2	45645577	45645577	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:45645577G>T	ENST00000263736.4	-	18	2322	c.2260C>A	c.(2260-2262)Ctg>Atg	p.L754M	SRBD1_ENST00000535761.1_Missense_Mutation_p.L273M|SRBD1_ENST00000490133.1_5'UTR	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	754					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TTTGGGCCCAGCCCTTTCACT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													264	172	203			NA	NA	2		NA											NA				45645577		2203	4300	6503	SO:0001583	missense			AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784	55133	55133			25521	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_018079	NM_018079	NA	Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.2260C>A	2.37:g.45645577G>T	ENSP00000263736:p.Leu754Met	NA	Q53T56|Q96TA4|Q9NW11	37	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337017	0.60963	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	T;T	0.36340	1.57;1.26	5.96	5.08	0.68730	Tex RuvX-like domain (1);	0.200635	0.42964	N	0.000623	T	0.46776	0.1410	L	0.49699	1.58	0.40511	D	0.98073	D	0.53312	0.959	P	0.56960	0.81	T	0.50224	-0.8853	10	0.87932	D	0	.	10.3659	0.44024	0.0739:0.0:0.7898:0.1363	.	754	Q8N5C6	SRBD1_HUMAN	M	754;273	ENSP00000263736:L754M;ENSP00000441272:L273M	ENSP00000263736:L754M	L	-	1	2	SRBD1	45499081	1.000000	0.71417	0.807000	0.32361	0.798000	0.45092	2.663000	0.46774	1.520000	0.48965	-0.195000	0.12781	CTG	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250747.3		-	ENST00000263736.4	Missense_Mutation	SNP	2 : 45645577 - 45645577 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	727	209
GCM2	9247	broad.mit.edu	37	6	10874435	10874435	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10874435C>T	ENST00000379491.4	-	5	1461	c.1314G>A	c.(1312-1314)agG>agA	p.R438R	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	438					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GAGAGGCTGCCCTGGTGACTG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	44	44			NA	NA	6		NA											NA				10874435		2203	4300	6503	SO:0001819	synonymous_variant			AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827	9247	9247			4198	protein-coding gene	gene with protein product		603716	glial cells missing (Drosophila) homolog b	GCMB	NA	9928992	Standard		NM_004752	NA	Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.1314G>A	6.37:g.10874435C>T		NA	Q5THN5	37	CCDS4517.1																																																																																			GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039844.1		-	ENST00000379491.4	Silent	SNP	6 : 10874435 - 10874435 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	256	52
NCDN	23154	broad.mit.edu	37	1	36029470	36029470	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36029470C>T	ENST00000373243.2	+	6	2096	c.1713C>T	c.(1711-1713)acC>acT	p.T571T	NCDN_ENST00000356090.4_Silent_p.T571T|NCDN_ENST00000373253.3_Silent_p.T554T	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	571					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATGTGGCCACCCTGGGGCTCC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	66	67			NA	NA	1		NA											NA				36029470		2203	4300	6503	SO:0001819	synonymous_variant			AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129	23154	23154			17597	protein-coding gene	gene with protein product		608458			NA	15007648	Standard	NM_014284	NM_014284	NA	Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1713C>T	1.37:g.36029470C>T		NA	D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	37	CCDS392.1	.	.	.	.	.	.	.	.	.	.	C	8.384	0.838179	0.16891	.	.	ENSG00000020129	ENST00000423723	.	.	.	4.55	1.49	0.22878	.	.	.	.	.	T	0.46580	0.1400	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26677	-1.0096	4	.	.	.	.	4.447	0.11602	0.148:0.4988:0.0:0.3531	.	.	.	.	L	165	.	.	P	+	2	0	NCDN	35802057	0.701000	0.27806	1.000000	0.80357	0.977000	0.68977	-0.339000	0.07832	0.336000	0.23639	0.462000	0.41574	CCC	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131298.1		+	ENST00000373243.2	Silent	SNP	1 : 36029470 - 36029470 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	355	34
MERTK	10461	broad.mit.edu	37	2	112779036	112779036	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112779036G>A	ENST00000295408.4	+	17	2484	c.2227G>A	c.(2227-2229)Ggc>Agc	p.G743S	MERTK_ENST00000409780.1_Missense_Mutation_p.G567S|MERTK_ENST00000421804.2_Missense_Mutation_p.G743S			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	743	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TGCGGACTTCGGCCTCTCTAA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	151	153			NA	NA	2		NA											NA				112779036		2203	4300	6503	SO:0001583	missense			U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208	10461	10461		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	7027	protein-coding gene	gene with protein product		604705	c-mer proto-oncogene tyrosine kinase		NA	8086340, 10343112	Standard		XM_005263565	NA	Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2227G>A	2.37:g.112779036G>A	ENSP00000295408:p.Gly743Ser	NA	Q9HBB4	37	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	G	36	5.794592	0.96952	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780;ENST00000449344	D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1	5.24	5.24	0.73138	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.34156	U	0.004202	D	0.97356	0.9135	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98130	1.0430	10	0.87932	D	0	-27.087	19.012	0.92877	0.0:0.0:1.0:0.0	.	743	Q12866	MERTK_HUMAN	S	743;743;379;567;67	ENSP00000295408:G743S;ENSP00000389152:G743S;ENSP00000387277:G567S;ENSP00000412660:G67S	ENSP00000295408:G743S	G	+	1	0	MERTK	112495507	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.657000	0.98554	2.724000	0.93272	0.563000	0.77884	GGC	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254046.2		+	ENST00000295408.4	Missense_Mutation	SNP	2 : 112779036 - 112779036 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	568	95
FN1	2335	broad.mit.edu	37	2	216249593	216249593	+	Silent	SNP	G	G	A	rs147150819		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216249593G>A	ENST00000354785.4	-	29	5088	c.4719C>T	c.(4717-4719)taC>taT	p.Y1573Y	FN1_ENST00000446046.1_Silent_p.Y1482Y|FN1_ENST00000323926.6_Silent_p.Y1573Y|FN1_ENST00000336916.4_Silent_p.Y1482Y|FN1_ENST00000345488.5_Silent_p.Y1482Y|FN1_ENST00000346544.3_Silent_p.Y1482Y|FN1_ENST00000421182.1_Silent_p.Y1482Y|FN1_ENST00000357009.2_Silent_p.Y1482Y|FN1_ENST00000357867.4_Silent_p.Y1482Y|FN1_ENST00000356005.4_Silent_p.Y1482Y|FN1_ENST00000359671.1_Silent_p.Y1482Y|FN1_ENST00000443816.1_Silent_p.Y1482Y|FN1_ENST00000432072.2_Silent_p.Y1573Y			P02751	FINC_HUMAN	fibronectin 1	1576	Fibronectin type-III 11.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGTCTCTCCGTAAGTGATCC	0.453		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	67	63	64		4446,4446,4446,4446,4719	0.9	1	2	dbSNP_134	64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FN1	NM_002026.2,NM_212474.1,NM_212476.1,NM_212478.1,NM_212482.1	,,,,	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	,,,,	1482/2356,1482/2177,1482/2297,1482/2331,1573/2478	216249593	1,13005	2203	4300	6503	SO:0001819	synonymous_variant				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414	2335	2335		Fibronectin type III domain containing, Endogenous ligands	3778	protein-coding gene	gene with protein product	migration-stimulating factor, cold-insoluble globulin	135600			NA	2992939, 3003095	Standard	NM_212476	NM_054034	NA	Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000354785.4:c.4719C>T	2.37:g.216249593G>A		NA	O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	37	CCDS42814.1																																																																																			FN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256667.2		-	ENST00000354785.4	Silent	SNP	2 : 216249593 - 216249593 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	271	40
DRD1	1812	broad.mit.edu	37	5	174869427	174869427	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174869427G>A	ENST00000393752.2	-	2	1668	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	226					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	GCAATGCGCCGTATTTGTTTC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	121	122			NA	NA	5		NA											NA				174869427		2203	4300	6503	SO:0001583	missense			X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845	1812	1812		GPCR / Class A : Dopamine receptors	3020	protein-coding gene	gene with protein product		126449			NA		Standard	NM_000794	NM_000794	NA	Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.676C>T	5.37:g.174869427G>A	ENSP00000377353:p.Arg226Trp	NA	B2RA44|Q4QRJ0	37	CCDS4393.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637339	0.67130	.	.	ENSG00000184845	ENST00000393752;ENST00000329144	T	0.43294	0.95	5.39	4.47	0.54385	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.76786	0.4036	H	0.98594	4.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84812	0.0791	10	0.87932	D	0	.	13.2032	0.59780	0.0:0.0:0.7355:0.2644	.	226	P21728	DRD1_HUMAN	W	226	ENSP00000377353:R226W	ENSP00000327652:R226W	R	-	1	2	DRD1	174802033	1.000000	0.71417	0.988000	0.46212	0.959000	0.62525	2.298000	0.43602	2.688000	0.91661	0.650000	0.86243	CGG	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252982.2		-	ENST00000393752.2	Missense_Mutation	SNP	5 : 174869427 - 174869427 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	726	120
XYLT1	64131	broad.mit.edu	37	16	17352928	17352928	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:17352928C>T	ENST00000261381.6	-	3	914	c.830G>A	c.(829-831)cGc>cAc	p.R277H		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	277					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AATCTCCTGGCGGCAGTGCTT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	63	65			NA	NA	16		NA											NA				17352928		2197	4300	6497	SO:0001583	missense			AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	64131	64131	2.4.2.26	Glucosaminyl (N-acetyl) transferase and xylosyltransferase family	15516	protein-coding gene	gene with protein product	protein xylosyltransferase 1	608124			NA	11099377	Standard	NM_022166	NM_022166	NA	Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.830G>A	16.37:g.17352928C>T	ENSP00000261381:p.Arg277His	NA	Q9H1B6	37	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.823876	0.90873	.	.	ENSG00000103489	ENST00000261381	T	0.07216	3.21	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.03306	-1.1050	10	0.87932	D	0	-31.9029	18.2463	0.89986	0.0:1.0:0.0:0.0	.	277	Q86Y38	XYLT1_HUMAN	H	277	ENSP00000261381:R277H	ENSP00000261381:R277H	R	-	2	0	XYLT1	17260429	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.988000	0.70579	2.547000	0.85894	0.655000	0.94253	CGC	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252241.2		-	ENST00000261381.6	Missense_Mutation	SNP	16 : 17352928 - 17352928 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	563	94
RYR3	6263	broad.mit.edu	37	15	33825537	33825537	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33825537G>A	ENST00000389232.4	+	5	450	c.380G>A	c.(379-381)aGa>aAa	p.R127K	RYR3_ENST00000415757.3_Missense_Mutation_p.R127K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	127	MIR 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACTACATCAAGATCCCAGACA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	101	103			NA	NA	15		NA											NA				33825537		1976	4163	6139	SO:0001583	missense				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838	6263	6263		Ion channels / Ryanodine receptors, EF-hand domain containing	10485	protein-coding gene	gene with protein product		180903			NA	8276408	Standard		NM_001036	NA	Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.380G>A	15.37:g.33825537G>A	ENSP00000373884:p.Arg127Lys	NA	O15175|Q15412	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588542	0.86851	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.98264	-4.83;-4.83	4.73	4.73	0.59995	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR motif (2);	0.000000	0.85682	D	0.000000	D	0.98369	0.9458	M	0.72118	2.19	0.48185	D	0.999609	D;P	0.53312	0.959;0.951	D;P	0.65684	0.937;0.76	D	0.98945	1.0792	10	0.07990	T	0.79	.	17.5237	0.87793	0.0:0.0:1.0:0.0	.	127;127	Q15413-2;Q15413	.;RYR3_HUMAN	K	127	ENSP00000373884:R127K;ENSP00000399610:R127K	ENSP00000354735:R127K	R	+	2	0	RYR3	31612829	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.688000	0.84153	2.442000	0.82660	0.655000	0.94253	AGA	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417514.1		+	ENST00000389232.4	Missense_Mutation	SNP	15 : 33825537 - 33825537 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	76	8
ATM	472	broad.mit.edu	37	11	108214019	108214019	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108214019T>G	ENST00000452508.2	+	58	8528	c.8339T>G	c.(8338-8340)cTt>cGt	p.L2780R	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.L2780R|C11orf65_ENST00000526725.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2780	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GGTGAATTTCTTGTTAACAAT	0.403		NA	D, Mis, N, F, S		T-PLL	leukemia, lymphoma, medulloblastoma, glioma		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		L, O	0													151	137	142			NA	NA	11		NA											NA				108214019		2201	4298	6499	SO:0001583	missense	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311	472	472			795	protein-coding gene	gene with protein product	TEL1, telomere maintenance 1, homolog (S. cerevisiae)	607585	ataxia telangiectasia mutated (includes complementation groups A, C and D), ataxia telangiectasia mutated	ATA, ATDC, ATC, ATD	NA		Standard	NM_000051	XM_005271561	NA	Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8339T>G	11.37:g.108214019T>G	ENSP00000388058:p.Leu2780Arg	NA	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.854269	0.91355	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.82167	-1.58;-1.58	5.56	5.56	0.83823	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.93119	0.7809	M	0.92649	3.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94661	0.7848	10	0.87932	D	0	.	15.9974	0.80262	0.0:0.0:0.0:1.0	.	2780	Q13315	ATM_HUMAN	R	2780	ENSP00000278616:L2780R;ENSP00000388058:L2780R	ENSP00000278616:L2780R	L	+	2	0	ATM	107719229	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.720000	0.84759	2.242000	0.73789	0.459000	0.35465	CTT	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389938.1		+	ENST00000452508.2	Missense_Mutation	SNP	11 : 108214019 - 108214019 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	830	151
PRRC2A	7916	broad.mit.edu	37	6	31599424	31599424	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31599424G>A	ENST00000376033.2	+	16	3208	c.2974G>A	c.(2974-2976)Ggg>Agg	p.G992R	PRRC2A_ENST00000376007.4_Missense_Mutation_p.G992R	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	992	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GGGGAAGCTAGGGGGCCCCAA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	19	18			NA	NA	6		NA											NA				31599424		1499	2704	4203	SO:0001583	missense			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469	7916	7916			13918	protein-coding gene	gene with protein product		142580	HLA-B associated transcript 2	BAT2	NA	2156268, 8499947	Standard	NM_080686	NM_080686	NA	Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.2974G>A	6.37:g.31599424G>A	ENSP00000365201:p.Gly992Arg	NA	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	37	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	G	0.231	-1.020760	0.02061	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01887	4.58;4.58	3.45	3.45	0.39498	.	0.113381	0.40064	N	0.001181	T	0.00754	0.0025	L	0.27053	0.805	0.33162	D	0.547171	B	0.33694	0.421	B	0.26864	0.074	T	0.51608	-0.8684	10	0.87932	D	0	-6.8984	8.5475	0.33430	0.116:0.0:0.884:0.0	.	992	P48634	PRC2A_HUMAN	R	992;981;992;992;217	ENSP00000365175:G992R;ENSP00000365201:G992R	ENSP00000365175:G992R	G	+	1	0	PRRC2A	31707403	0.914000	0.31030	0.720000	0.30636	0.063000	0.16089	3.322000	0.52007	1.784000	0.52394	0.563000	0.77884	GGG	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000259319.1		+	ENST00000376033.2	Missense_Mutation	SNP	6 : 31599424 - 31599424 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	186	40
NUTM1	256646	broad.mit.edu	37	15	34640559	34640559	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34640559G>T	ENST00000537011.1	+	3	872	c.490G>T	c.(490-492)Gca>Tca	p.A164S	NUTM1_ENST00000438749.3_Missense_Mutation_p.A154S|NUTM1_ENST00000333756.4_Missense_Mutation_p.A136S	NM_001284292.1	NP_001271221.1			NUT midline carcinoma, family member 1	NA											NA						ATTTGTGACAGCATCTAATGT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	59	62			NA	NA	15		NA											NA				34640559		2201	4298	6499	SO:0001583	missense			AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507	256646	256646			29919	protein-coding gene	gene with protein product	nuclear protein in testis	608963	chromosome 15 open reading frame 55	C15orf55	NA	12543779	Standard	NM_175741	NM_175741	NA	Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000537011.1:c.490G>T	15.37:g.34640559G>T	ENSP00000444896:p.Ala164Ser	NA		37		.	.	.	.	.	.	.	.	.	.	G	11.98	1.799968	0.31869	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000354999;ENST00000333756	T;T;T	0.28069	1.63;1.63;1.63	5.69	0.226	0.15353	Nuclear Testis  protein, N-terminal (1);	0.456783	0.20699	N	0.087312	T	0.36248	0.0960	M	0.70595	2.14	0.09310	N	1	D;D;P	0.58970	0.984;0.98;0.955	P;P;P	0.53006	0.715;0.592;0.666	T	0.15464	-1.0436	10	0.39692	T	0.17	.	4.5545	0.12130	0.2598:0.3088:0.4314:0.0	.	154;164;136	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	S	164;154;136;136	ENSP00000444896:A164S;ENSP00000407031:A154S;ENSP00000329448:A136S	ENSP00000329448:A136S	A	+	1	0	C15orf55	32427851	0.005000	0.15991	0.001000	0.08648	0.100000	0.18952	0.322000	0.19576	0.057000	0.16193	0.655000	0.94253	GCA	NUTM1-001	PUTATIVE	downstream_ATG|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000418024.1		+	ENST00000537011.1	Missense_Mutation	SNP	15 : 34640559 - 34640559 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	267	39
GPR12	2835	broad.mit.edu	37	13	27333952	27333952	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27333952G>A	ENST00000381436.2	-	1	475	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	GPR12_ENST00000405846.3_Silent_p.L5L			P47775	GPR12_HUMAN	G protein-coupled receptor 12	5						integral to plasma membrane				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		TTGACCTTCAGGTCTTCATTC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	36	34			NA	NA	13		NA											NA				27333952		2200	4299	6499	SO:0001819	synonymous_variant			U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975	NA	2835		GPCR / Class A : Orphans	4466	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 84	600752			NA	8262253, 8530049	Standard		NM_005288	NA	Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.13C>T	13.37:g.27333952G>A		NA	Q5T8P3	37	CCDS9319.1																																																																																			GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044257.2		-	ENST00000381436.2	Silent	SNP	13 : 27333952 - 27333952 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	353	61
FAM53B	9679	broad.mit.edu	37	10	126395270	126395270	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:126395270G>T	ENST00000280780.6	-	2	443	c.13C>A	c.(13-15)Cta>Ata	p.L5I	FAM53B_ENST00000392754.3_Missense_Mutation_p.L5I|FAM53B_ENST00000337318.3_Missense_Mutation_p.L5I|RP11-464O2.2_ENST00000448422.2_RNA|RP11-464O2.2_ENST00000432699.1_RNA|RP11-12J10.3_ENST00000494792.1_3'UTR			Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	5										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		CTTTCACTTAGGACCATCACC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	107	109			NA	NA	10		NA											NA				126395270		2203	4300	6503	SO:0001583	missense			D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319	9679	9679			28968	protein-coding gene	gene with protein product			KIAA0140	KIAA0140	NA	8590280	Standard	NM_014661	NM_014661	NA	Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000280780.6:c.13C>A	10.37:g.126395270G>T	ENSP00000280780:p.Leu5Ile	NA	D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	37		.	.	.	.	.	.	.	.	.	.	G	11.91	1.779685	0.31502	.	.	ENSG00000189319	ENST00000337318;ENST00000392754;ENST00000280780	T;T;T	0.40756	1.02;1.02;1.02	4.61	3.71	0.42584	.	0.405020	0.23889	N	0.043562	T	0.41213	0.1149	N	0.24115	0.695	0.27832	N	0.941414	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.80764	0.986;0.994;0.986	T	0.24621	-1.0155	10	0.02654	T	1	-2.5053	10.2122	0.43147	0.0941:0.0:0.9059:0.0	.	5;5;5	Q14153-2;Q14153;B3KMZ2	.;FA53B_HUMAN;.	I	5	ENSP00000338532:L5I;ENSP00000376509:L5I;ENSP00000280780:L5I	ENSP00000280780:L5I	L	-	1	2	FAM53B	126385260	1.000000	0.71417	0.997000	0.53966	0.810000	0.45777	2.337000	0.43947	1.319000	0.45190	0.655000	0.94253	CTA	FAM53B-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000050881.1		-	ENST00000280780.6	Missense_Mutation	SNP	10 : 126395270 - 126395270 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	525	15
DOCK6	57572	broad.mit.edu	37	19	11361633	11361633	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11361633C>A	ENST00000294618.7	-	6	648	c.637G>T	c.(637-639)Gaa>Taa	p.E213*		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	213					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TCCACATCTTCTGGGGCCGCC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	37	35			NA	NA	19		NA											NA				11361633		1925	4115	6040	SO:0001587	stop_gained				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158	57572	57572			19189	protein-coding gene	gene with protein product		614194			NA	12432077	Standard	NM_020812	NM_020812	NA	Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.637G>T	19.37:g.11361633C>A	ENSP00000294618:p.Glu213*	NA	A6H8X5|Q7Z7P4|Q9P2F2	37	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635450	0.87760	.	.	ENSG00000130158	ENST00000294618	.	.	.	4.87	4.87	0.63330	.	0.114392	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-19.955	16.7706	0.85536	0.0:1.0:0.0:0.0	.	.	.	.	X	213	.	ENSP00000294618:E213X	E	-	1	0	DOCK6	11222633	1.000000	0.71417	0.443000	0.26883	0.074000	0.17049	7.185000	0.77714	2.250000	0.74265	0.462000	0.41574	GAA	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453155.1		-	ENST00000294618.7	Nonsense_Mutation	SNP	19 : 11361633 - 11361633 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	260	40
KLC2	64837	broad.mit.edu	37	11	66033168	66033168	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66033168C>T	ENST00000394065.2	+	10	1978	c.960C>T	c.(958-960)taC>taT	p.Y320Y	KLC2_ENST00000417856.1_Silent_p.Y459Y|KLC2_ENST00000316924.5_Silent_p.Y459Y|KLC2_ENST00000421552.1_Silent_p.Y382Y|KLC2_ENST00000394067.2_Silent_p.Y459Y|KLC2_ENST00000394066.2_Silent_p.Y382Y|KLC2_ENST00000394078.1_Intron			Q9H0B6	KLC2_HUMAN	kinesin light chain 2	459					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GGGCCCTATACCGGCGCCAGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	31	31			NA	NA	11		NA											NA				66033168		2200	4295	6495	SO:0001819	synonymous_variant			AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996	64837	64837		Tetratricopeptide (TTC) repeat domain containing	20716	protein-coding gene	gene with protein product		611729			NA	9624122	Standard	NM_022822	NM_022822	NA	Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000394065.2:c.960C>T	11.37:g.66033168C>T		NA	B2RDY4|Q9H9C8|Q9HA20	37																																																																																				KLC2-005	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000258204.2		+	ENST00000394065.2	Silent	SNP	11 : 66033168 - 66033168 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	288	14
SERINC2	347735	broad.mit.edu	37	1	31905859	31905859	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31905859C>T	ENST00000373710.1	+	10	1359	c.1086C>T	c.(1084-1086)acC>acT	p.T362T	SERINC2_ENST00000536384.1_Silent_p.T357T|SERINC2_ENST00000373709.3_Silent_p.T353T|SERINC2_ENST00000536859.1_Silent_p.T357T|SERINC2_ENST00000491976.1_3'UTR	NM_001199038.1	NP_001185967.1	Q96SA4	SERC2_HUMAN	serine incorporator 2	353						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		TGATGCAGACCGAGGAGTGCC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	35	37			NA	NA	1		NA											NA				31905859		2202	4300	6502	SO:0001819	synonymous_variant			AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528	347735	347735			23231	protein-coding gene	gene with protein product		614549	tumor differentially expressed 2-like	TDE2L	NA	12949800	Standard	NM_018565	NM_178865	NA	Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373710.1:c.1086C>T	1.37:g.31905859C>T		NA	A0AVB4|Q86Y23	37	CCDS55583.1																																																																																			SERINC2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000010681.1		+	ENST00000373710.1	Silent	SNP	1 : 31905859 - 31905859 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	141	14
USP19	10869	broad.mit.edu	37	3	49153749	49153749	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49153749C>T	ENST00000453664.1	-	9	1607	c.1289G>A	c.(1288-1290)gGg>gAg	p.G430E	USP19_ENST00000398896.1_Missense_Mutation_p.G145E|USP19_ENST00000417901.1_Missense_Mutation_p.G440E|USP19_ENST00000398892.3_Missense_Mutation_p.G377E|USP19_ENST00000398898.2_Missense_Mutation_p.G377E|USP19_ENST00000434032.2_Missense_Mutation_p.G440E|USP19_ENST00000398888.2_Missense_Mutation_p.G339E	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	339					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGTGTGGGGCCCACAGCCCGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	45	44			NA	NA	3		NA											NA				49153749		2003	4166	6169	SO:0001583	missense			AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046	10869	10869		Zinc fingers, MYND-type, Ubiquitin-specific peptidases	12617	protein-coding gene	gene with protein product		614471	ubiquitin specific protease 19		NA	12838346	Standard	NM_006677	NM_001199160	NA	Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000453664.1:c.1289G>A	3.37:g.49153749C>T	ENSP00000400090:p.Gly430Glu	NA	A6H8U2|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	37	CCDS56256.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885364	0.72410	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032;ENST00000306026;ENST00000425298	T;T;T;T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57;2.57;2.57;2.57	6.07	6.07	0.98685	Domain of unknown function DUF1872 (1);CS-like domain (1);HSP20-like chaperone (1);	0.098181	0.64402	D	0.000001	T	0.33789	0.0875	L	0.55481	1.735	0.58432	D	0.999997	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.998	D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0;0.998;0.981	T	0.00312	-1.1826	10	0.56958	D	0.05	-32.7097	15.6958	0.77494	0.0:0.8637:0.1363:0.0	.	503;440;430;339;377;425;145	A5PKX8;E9PEG8;E7EN22;O94966;B5MEG5;O94966-2;E7ESU0	.;.;.;UBP19_HUMAN;.;.;.	E	145;377;440;430;377;339;440;425;425	ENSP00000381870:G145E;ENSP00000381872:G377E;ENSP00000395260:G440E;ENSP00000400090:G430E;ENSP00000381867:G377E;ENSP00000381863:G339E;ENSP00000401197:G440E;ENSP00000303503:G425E	ENSP00000303503:G425E	G	-	2	0	USP19	49128753	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.380000	0.66202	2.884000	0.98904	0.655000	0.94253	GGG	USP19-013	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345933.1		-	ENST00000453664.1	Missense_Mutation	SNP	3 : 49153749 - 49153749 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	321	58
RCC1	1104	broad.mit.edu	37	1	28863294	28863294	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28863294C>T	ENST00000373833.6	+	12	1258	c.973C>T	c.(973-975)Cgg>Tgg	p.R325W	RCC1_ENST00000398958.2_Missense_Mutation_p.R325W|RCC1_ENST00000373832.1_Missense_Mutation_p.R325W|RCC1_ENST00000373831.3_Missense_Mutation_p.R356W			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	325					cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGTATGGGCGGCTGGGCCT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	98	97			NA	NA	1		NA											NA				28863294		2203	4300	6503	SO:0001583	missense			X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198	1104	1104			1913	protein-coding gene	gene with protein product		179710	chromosome condensation 1	CHC1	NA	7851910	Standard	NM_001269	NM_001048199	NA	Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.973C>T	1.37:g.28863294C>T	ENSP00000362939:p.Arg325Trp	NA	Q16269|Q6NT97	37	CCDS323.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.532939	0.85812	.	.	ENSG00000180198	ENST00000398958;ENST00000373833;ENST00000373832;ENST00000373831;ENST00000411533	D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06	5.8	4.88	0.63580	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.94288	0.8165	H	0.95328	3.655	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95339	0.8436	10	0.87932	D	0	-19.6537	12.7877	0.57516	0.2978:0.7022:0.0:0.0	.	356;342;325	P18754-2;E9PAT9;P18754	.;.;RCC1_HUMAN	W	325;325;325;356;342	ENSP00000381931:R325W;ENSP00000362939:R325W;ENSP00000362938:R325W;ENSP00000362937:R356W;ENSP00000413644:R342W	ENSP00000362937:R356W	R	+	1	2	RCC1	28735881	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.097000	0.50251	1.423000	0.47198	0.655000	0.94253	CGG	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000010323.3		+	ENST00000373833.6	Missense_Mutation	SNP	1 : 28863294 - 28863294 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	731	137
BAIAP3	8938	broad.mit.edu	37	16	1394480	1394480	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1394480G>A	ENST00000421665.2	+	17	1718	c.1505G>A	c.(1504-1506)cGt>cAt	p.R502H	BAIAP3_ENST00000324385.5_Missense_Mutation_p.R573H|BAIAP3_ENST00000397489.1_Missense_Mutation_p.R555H|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R515H|BAIAP3_ENST00000568887.1_Missense_Mutation_p.R510H|BAIAP3_ENST00000426824.3_Missense_Mutation_p.R538H|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R555H	NM_001199096.1	NP_001186025.1	O94812	BAIP3_HUMAN	BAI1-associated protein 3	573					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				AGAGGCAACCGTGAGTGGTAC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	102	102			NA	NA	16		NA											NA				1394480		2199	4300	6499	SO:0001583	missense			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516	8938	8938			948	protein-coding gene	gene with protein product		604009			NA	9790924	Standard		NM_003933	NA	Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000421665.2:c.1505G>A	16.37:g.1394480G>A	ENSP00000409533:p.Arg502His	NA	B2RCD7|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	37	CCDS55979.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.870421	0.33069	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.71817	-0.59;-0.59;-0.6;-0.59;-0.6	4.17	0.721	0.18219	.	0.510616	0.20686	N	0.087546	T	0.55433	0.1920	L	0.47716	1.5	0.20873	N	0.999833	P;P;P;P	0.49696	0.916;0.834;0.927;0.834	B;B;B;B	0.40782	0.247;0.255;0.255;0.34	T	0.50866	-0.8777	10	0.45353	T	0.12	-8.1547	4.0236	0.09677	0.1184:0.0:0.4607:0.4209	.	502;515;573;555	E7EUB9;B4DIK3;O94812;A2A2B2	.;.;BAIP3_HUMAN;.	H	538;555;573;555;502	ENSP00000407242:R538H;ENSP00000380625:R555H;ENSP00000324510:R573H;ENSP00000380626:R555H;ENSP00000409533:R502H	ENSP00000324510:R573H	R	+	2	0	BAIAP3	1334481	0.481000	0.25941	0.818000	0.32626	0.847000	0.48162	1.203000	0.32284	0.826000	0.34661	0.491000	0.48974	CGT	BAIAP3-007	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432010.1		+	ENST00000421665.2	Missense_Mutation	SNP	16 : 1394480 - 1394480 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	601	138
HTR5A-AS1	0	broad.mit.edu	37	7	154863025	154863025	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:154863025G>A	ENST00000395731.2	-	0	242				HTR5A_ENST00000287907.2_Missense_Mutation_p.R139H|HTR5A-AS1_ENST00000543018.1_5'UTR|HTR5A-AS1_ENST00000493904.1_5'UTR						NA											NA						GCCCTGGACCGCTACTGGTCC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	61	68			NA	NA	7		NA											NA				154863025		2203	4300	6503	SO:0001623	5_prime_UTR_variant											NA	NA			NA							NA					NA						ENST00000395731.2:c.-12C>T	7.37:g.154863025G>A		NA		37		.	.	.	.	.	.	.	.	.	.	G	34	5.335525	0.95758	.	.	ENSG00000157219	ENST00000287907	D	0.97161	-4.27	4.75	4.75	0.60458	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99223	0.9730	H	0.99336	4.52	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.98600	1.0658	10	0.87932	D	0	.	17.9677	0.89105	0.0:0.0:1.0:0.0	.	139	P47898	5HT5A_HUMAN	H	139	ENSP00000287907:R139H	ENSP00000287907:R139H	R	+	2	0	HTR5A	154493958	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.222000	0.95196	2.465000	0.83290	0.655000	0.94253	CGC	HTR5A-AS1-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000322238.1		-	ENST00000395731.2	5'UTR	SNP	7 : 154863025 - 154863025 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	207	55
ODF1	4956	broad.mit.edu	37	8	103564019	103564019	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103564019C>A	ENST00000285402.3	+	1	220	c.64C>A	c.(64-66)Cta>Ata	p.L22I		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	22					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			GGACAGAGAACTAAGGCAACT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													271	206	228			NA	NA	8		NA											NA				103564019		2203	4300	6503	SO:0001583	missense			M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087	4956	4956		Heat shock proteins / HSPB	8113	protein-coding gene	gene with protein product	cancer/testis antigen 133	182878	outer dense fibre of sperm tails 1		NA	8305202	Standard		NM_024410	NA	Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.64C>A	8.37:g.103564019C>A	ENSP00000285402:p.Leu22Ile	NA	Q3SX72	37	CCDS6293.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332159	0.60853	.	.	ENSG00000155087	ENST00000285402	T	0.35973	1.28	5.7	2.92	0.33932	.	0.000000	0.41938	D	0.000790	T	0.33904	0.0879	N	0.08118	0	0.80722	D	1	D	0.57571	0.98	D	0.67548	0.952	T	0.11518	-1.0584	10	0.41790	T	0.15	-13.2892	9.486	0.38931	0.0:0.839:0.0:0.161	.	22	Q14990	ODFP1_HUMAN	I	22	ENSP00000285402:L22I	ENSP00000285402:L22I	L	+	1	2	ODF1	103633195	0.969000	0.33509	0.952000	0.39060	0.991000	0.79684	0.541000	0.23207	0.328000	0.23435	0.563000	0.77884	CTA	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379884.1		+	ENST00000285402.3	Missense_Mutation	SNP	8 : 103564019 - 103564019 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	605	115
TREML4	285852	broad.mit.edu	37	6	41196470	41196470	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41196470C>T	ENST00000341495.2	+	2	186	c.82C>T	c.(82-84)Ctt>Ttt	p.L28F	TREML4_ENST00000448827.2_Missense_Mutation_p.L28F	NM_198153.2	NP_937796.1	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid cells-like 4	28	Ig-like V-type.					extracellular region				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					GCCTGAAGAACTTCACAAACA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	84	84			NA	NA	6		NA											NA				41196470		2203	4300	6503	SO:0001583	missense			AF534826	CCDS34446.1	6p21.1	2013-01-11			ENSG00000188056	ENSG00000188056	285852	285852		Immunoglobulin superfamily / V-set domain containing	30807	protein-coding gene	gene with protein product	TREM like transcript 4	614664			NA	12645956	Standard		NM_198153	NA	Approved	TLT4	uc003oqc.3	Q6UXN2	OTTHUMG00000016408	ENST00000341495.2:c.82C>T	6.37:g.41196470C>T	ENSP00000342570:p.Leu28Phe	NA	B7ZL92	37	CCDS34446.1	.	.	.	.	.	.	.	.	.	.	.	13.32	2.201274	0.38905	.	.	ENSG00000188056	ENST00000341495;ENST00000445267;ENST00000448827	T;T	0.68903	-0.36;-0.36	3.78	1.92	0.25849	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64316	0.2587	M	0.64080	1.96	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53143	-0.8480	9	0.72032	D	0.01	-8.9772	5.2004	0.15260	0.0:0.6706:0.2107:0.1187	.	28	Q6UXN2	TRML4_HUMAN	F	28	ENSP00000342570:L28F;ENSP00000418078:L28F	ENSP00000342570:L28F	L	+	1	0	TREML4	41304448	0.000000	0.05858	0.001000	0.08648	0.078000	0.17371	0.330000	0.19715	0.354000	0.24105	0.591000	0.81541	CTT	TREML4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043873.2		+	ENST00000341495.2	Missense_Mutation	SNP	6 : 41196470 - 41196470 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	544	102
HERC2	8924	broad.mit.edu	37	15	28358723	28358723	+	Missense_Mutation	SNP	G	G	A	rs144912188		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28358723G>A	ENST00000261609.7	-	91	14123	c.14015C>T	c.(14014-14016)aCg>aTg	p.T4672M		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4672	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCATACCATCGTCTCCAGTTC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/THR	0,4406		0,0,2203	85	79	81		14015	5.3	1	15	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	no	missense	HERC2	NM_004667.4	81	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	4672/4835	28358723	1,13005	2203	4300	6503	SO:0001583	missense			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731	8924	8924			4868	protein-coding gene	gene with protein product		605837	hect domain and RLD 2		NA	9949213	Standard	NM_004667	NM_004667	NA	Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.14015C>T	15.37:g.28358723G>A	ENSP00000261609:p.Thr4672Met	NA	Q86SV7|Q86SV8|Q86SV9|Q86YY3|Q86YY4|Q86YY5|Q86YY6|Q86YY7|Q86YY8|Q86YY9|Q86YZ0|Q86YZ1	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.712289	0.68730	0.0	1.16E-4	ENSG00000128731	ENST00000261609	T	0.58797	0.31	5.33	5.33	0.75918	HECT (4);	0.000000	0.85682	D	0.000000	T	0.70945	0.3282	L	0.49640	1.575	0.80722	D	1	D;D	0.69078	0.995;0.997	P;D	0.64144	0.788;0.922	T	0.73307	-0.4024	10	0.72032	D	0.01	.	19.0214	0.92917	0.0:0.0:1.0:0.0	.	4672;361	O95714;Q8ND39	HERC2_HUMAN;.	M	4672	ENSP00000261609:T4672M	ENSP00000261609:T4672M	T	-	2	0	HERC2	26032318	1.000000	0.71417	0.954000	0.39281	0.172000	0.22775	9.801000	0.99128	2.503000	0.84419	0.561000	0.74099	ACG	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251358.2		-	ENST00000261609.7	Missense_Mutation	SNP	15 : 28358723 - 28358723 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	279	47
TRAPPC8	22878	broad.mit.edu	37	18	29429679	29429679	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29429679A>G	ENST00000283351.4	-	25	3920	c.3585T>C	c.(3583-3585)tgT>tgC	p.C1195C	TRAPPC8_ENST00000582539.1_Silent_p.C1141C	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1195					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGAAGTCTGCACATGGGCTTG	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	60	60			NA	NA	18		NA											NA				29429679		2203	4299	6502	SO:0001819	synonymous_variant			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339	22878	22878		Trafficking protein particle complex	29169	protein-coding gene	gene with protein product	general sporulation gene 1 homolog (S. cerevisiae)	614136	KIAA1012	KIAA1012	NA	10231032, 11230166	Standard	NM_014939	NM_014939	NA	Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.3585T>C	18.37:g.29429679A>G		NA	A0JP15|B3KME5|Q9H0L2	37	CCDS11901.1																																																																																			TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255355.1		-	ENST00000283351.4	Silent	SNP	18 : 29429679 - 29429679 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	291	49
FAF2	23197	broad.mit.edu	37	5	175913437	175913437	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175913437A>G	ENST00000261942.6	+	3	267	c.214A>G	c.(214-216)Aat>Gat	p.N72D	FAF2_ENST00000510446.1_3'UTR	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	72					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						CCTGCAGGTTAATACAGCTGA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	119	127			NA	NA	5		NA											NA				175913437		2203	4300	6503	SO:0001583	missense			BC015791	CCDS34296.1	5q35.2	2011-06-28	2008-07-25	2008-07-25	ENSG00000113194	ENSG00000113194	23197	23197		UBX domain containing	24666	protein-coding gene	gene with protein product	expressed in T cells and eosinophils in atopic dermatitis, UBX domain protein 3B		UBX domain containing 8	UBXD8	NA	10048485, 12372427	Standard	NM_014613	NM_014613	NA	Approved	ETEA, KIAA0887, UBXN3B	uc003mej.4	Q96CS3	OTTHUMG00000163228	ENST00000261942.6:c.214A>G	5.37:g.175913437A>G	ENSP00000261942:p.Asn72Asp	NA	O94963|Q8IUF2|Q9BRP2|Q9BVM7	37	CCDS34296.1	.	.	.	.	.	.	.	.	.	.	A	17.85	3.489276	0.64074	.	.	ENSG00000113194	ENST00000261942;ENST00000540174	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.40448	0.1117	N	0.11870	0.19	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28459	-1.0043	8	.	.	.	-19.0218	16.6127	0.84892	1.0:0.0:0.0:0.0	.	72	Q96CS3	FAF2_HUMAN	D	72	.	.	N	+	1	0	FAF2	175846043	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.809000	0.91944	2.322000	0.78497	0.528000	0.53228	AAT	FAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372194.1		+	ENST00000261942.6	Missense_Mutation	SNP	5 : 175913437 - 175913437 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	504	81
CMYA5	202333	broad.mit.edu	37	5	79026176	79026176	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79026176G>A	ENST00000446378.2	+	2	1619	c.1588G>A	c.(1588-1590)Gag>Aag	p.E530K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	530	Glu-rich.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGTAGAAGAAGAGATCGTAGA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	103	104			NA	NA	5		NA											NA				79026176		1853	4096	5949	SO:0001583	missense			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309	202333	202333		Tripartite motif containing / Tripartite motif containing, A-kinase anchor proteins, Fibronectin type III domain containing	14305	protein-coding gene	gene with protein product	genethonin-3, tripartite motif-containing 76	612193	chromosome 5 open reading frame 10	C5orf10	NA	14688250	Standard	NM_153610	NM_153610	NA	Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.1588G>A	5.37:g.79026176G>A	ENSP00000394770:p.Glu530Lys	NA	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	37	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221654	0.58560	.	.	ENSG00000164309	ENST00000446378	T	0.63913	-0.07	5.8	5.8	0.92144	.	0.468598	0.18174	N	0.149369	T	0.61223	0.2330	L	0.36672	1.1	0.26789	N	0.969444	P	0.49253	0.921	P	0.49451	0.611	T	0.60332	-0.7284	10	0.87932	D	0	.	12.5436	0.56186	0.0759:0.0:0.9241:0.0	.	530	Q8N3K9	CMYA5_HUMAN	K	530	ENSP00000394770:E530K	ENSP00000394770:E530K	E	+	1	0	CMYA5	79061932	0.821000	0.29204	0.992000	0.48379	0.523000	0.34469	1.409000	0.34680	2.758000	0.94735	0.563000	0.77884	GAG	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369497.1		+	ENST00000446378.2	Missense_Mutation	SNP	5 : 79026176 - 79026176 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	617	132
TBC1D17	79735	broad.mit.edu	37	19	50387800	50387800	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50387800G>A	ENST00000221543.5	+	12	1627	c.1328G>A	c.(1327-1329)gGc>gAc	p.G443D	TBC1D17_ENST00000535102.2_Missense_Mutation_p.G410D	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	443	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TGTTTCTGTGGCTTCATGGAG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	163	162			NA	NA	19		NA											NA				50387800		2203	4300	6503	SO:0001583	missense			AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946	79735	79735			25699	protein-coding gene	gene with protein product					NA	22854040	Standard	NM_024682	NM_024682	NA	Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.1328G>A	19.37:g.50387800G>A	ENSP00000221543:p.Gly443Asp	NA		37	CCDS12785.1	.	.	.	.	.	.	.	.	.	.	G	31	5.061458	0.93846	.	.	ENSG00000104946	ENST00000221543;ENST00000535102	T;T	0.11169	2.8;2.8	5.22	5.22	0.72569	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	M	0.85777	2.775	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.79108	0.979;0.992	T	0.30149	-0.9988	10	0.59425	D	0.04	-41.3911	16.2481	0.82460	0.0:0.0:1.0:0.0	.	410;443	F5H1W7;Q9HA65	.;TBC17_HUMAN	D	443;410	ENSP00000221543:G443D;ENSP00000446323:G410D	ENSP00000221543:G443D	G	+	2	0	TBC1D17	55079612	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.017000	0.57167	2.424000	0.82194	0.561000	0.74099	GGC	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466404.1		+	ENST00000221543.5	Missense_Mutation	SNP	19 : 50387800 - 50387800 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	682	28
CETN2	1069	broad.mit.edu	37	X	151996394	151996394	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151996394G>A	ENST00000370277.3	-	5	576	c.510C>T	c.(508-510)agC>agT	p.S170S	CETN2_ENST00000493482.1_5'UTR	NM_004344.1	NP_004335.1	P41208	CETN2_HUMAN	centrin, EF-hand protein, 2	170	EF-hand 4.				cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis	centriole|cytosol|XPC complex	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(1)|lung(4)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					CTTAATAGAGGCTGGTCTTTT	0.408		NA						Direct reversal of damage;Nucleotide excision repair (NER)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	146	154			NA	NA	X		NA											NA				151996394		2203	4300	6503	SO:0001819	synonymous_variant			X72964	CCDS14716.1	Xq28	2013-01-10			ENSG00000147400	ENSG00000147400	1069	1069		EF-hand domain containing	1867	protein-coding gene	gene with protein product		300006		CALT	NA	7713520, 8597638	Standard	NM_004344	NM_004344	NA	Approved	CEN2	uc004fgq.3	P41208	OTTHUMG00000024246	ENST00000370277.3:c.510C>T	X.37:g.151996394G>A		NA	B2R4T4|Q53XW1	37	CCDS14716.1																																																																																			CETN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000061197.1		-	ENST00000370277.3	Silent	SNP	X : 151996394 - 151996394 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	565	76
ADH1A	124	broad.mit.edu	37	4	100208091	100208091	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100208091C>A	ENST00000209668.2	-	3	288	c.175G>T	c.(175-177)Gtg>Ttg	p.V59L	RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'UTR	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	59					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	AGTGGGGTCACCATGGTACCA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	161	168			NA	NA	4		NA											NA				100208091		2203	4300	6503	SO:0001583	missense			M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	124	124	1.1.1.1	Alcohol dehydrogenases	249	protein-coding gene	gene with protein product		103700		ADH1	NA	3006456	Standard	NM_000667	NM_000667	NA	Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.175G>T	4.37:g.100208091C>A	ENSP00000209668:p.Val59Leu	NA	A8K3E3|Q17R68	37	CCDS3648.1	.	.	.	.	.	.	.	.	.	.	C	4.695	0.129175	0.08981	.	.	ENSG00000187758	ENST00000209668	T	0.04551	3.6	2.79	-1.21	0.09524	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	1.209390	0.05695	N	0.593050	T	0.02267	0.0070	N	0.02266	-0.62	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.46091	-0.9216	10	0.87932	D	0	-0.0363	5.046	0.14485	0.1436:0.5154:0.0:0.341	.	59	P07327	ADH1A_HUMAN	L	59	ENSP00000209668:V59L	ENSP00000209668:V59L	V	-	1	0	ADH1A	100427114	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	-3.817000	0.00359	-0.258000	0.09446	0.460000	0.39030	GTG	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253669.1		-	ENST00000209668.2	Missense_Mutation	SNP	4 : 100208091 - 100208091 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	813	163
MARCH4	57574	broad.mit.edu	37	2	217234861	217234861	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217234861G>T	ENST00000273067.4	-	1	1889	c.123C>A	c.(121-123)cgC>cgA	p.R41R		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	41						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GCATGCGGCAGCGGCACTTGA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001819	synonymous_variant			AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583	57574	57574		MARCH membrane-associated ring fingers, RING-type (C3HC4) zinc fingers	29269	protein-coding gene	gene with protein product		608208	membrane-associated ring finger (C3HC4) 4		NA	10718198, 14722266	Standard	NM_020814	NM_020814	NA	Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.123C>A	2.37:g.217234861G>T		NA	Q4KMN7|Q86WR8	37	CCDS33376.1																																																																																			MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337272.2		-	ENST00000273067.4	Silent	SNP	2 : 217234861 - 217234861 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	107	23
BCAN	63827	broad.mit.edu	37	1	156617305	156617305	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156617305G>A	ENST00000329117.5	+	4	808	c.472G>A	c.(472-474)Gtc>Atc	p.V158I	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.V158I	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	NA	Link 1.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CACAGGGGTCGTCTTTCTCTA	0.627		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				156617305		2203	4300	6503	SO:0001583	missense			BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692	63827	63827		Immunoglobulin superfamily / V-set domain containing, Proteoglycans / Extracellular Matrix : Hyalectans	23059	protein-coding gene	gene with protein product	chondroitin sulfate proteoglycan 7, brevican proteoglycan	600347			NA	11054543, 11873941	Standard	NM_021948	NM_021948	NA	Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.472G>A	1.37:g.156617305G>A	ENSP00000331210:p.Val158Ile	NA	D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	37	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667133	0.88251	.	.	ENSG00000132692	ENST00000329117;ENST00000457777;ENST00000424639;ENST00000361588	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	4.15	4.15	0.48705	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.000000	0.51477	D	0.000090	T	0.36220	0.0959	M	0.72118	2.19	0.58432	D	0.999999	D;D	0.89917	1.0;0.981	D;P	0.74674	0.984;0.888	T	0.29212	-1.0019	10	0.72032	D	0.01	-24.0919	15.1361	0.72566	0.0:0.0:1.0:0.0	.	158;158	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	I	158;158;56;158	ENSP00000331210:V158I;ENSP00000389898:V158I;ENSP00000401709:V56I;ENSP00000354925:V158I	ENSP00000331210:V158I	V	+	1	0	BCAN	154883929	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	9.494000	0.97962	2.120000	0.65058	0.442000	0.29010	GTC	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000081844.2		+	ENST00000329117.5	Missense_Mutation	SNP	1 : 156617305 - 156617305 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	322	55
SNRNP200	23020	broad.mit.edu	37	2	96944327	96944327	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96944327C>A	ENST00000323853.5	-	38	5523	c.5446G>T	c.(5446-5448)Ggc>Tgc	p.G1816C	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1816	SEC63 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GCGATCATGCCTAGGTTCAGA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	99	102			NA	NA	2		NA											NA				96944327		2203	4300	6503	SO:0001583	missense			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028	23020	23020			30859	protein-coding gene	gene with protein product	U5 snRNP specific protein, 200 KD	601664	activating signal cointegrator 1 complex subunit 3-like 1, retinitis pigmentosa 33 (autosomal dominant)	ASCC3L1, RP33	NA	9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014	NM_014014	NA	Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.5446G>T	2.37:g.96944327C>A	ENSP00000317123:p.Gly1816Cys	NA	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	37	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079152	0.76528	.	.	ENSG00000144028	ENST00000323853;ENST00000536601;ENST00000543553	D	0.84589	-1.87	5.62	5.62	0.85841	Sec63 domain (3);	0.000000	0.85682	D	0.000000	D	0.92410	0.7591	M	0.88704	2.975	0.80722	D	1	P	0.45768	0.866	P	0.54924	0.764	D	0.92921	0.6355	10	0.62326	D	0.03	-16.916	18.7951	0.91991	0.0:1.0:0.0:0.0	.	1816	O75643	U520_HUMAN	C	1816;275;399	ENSP00000317123:G1816C	ENSP00000317123:G1816C	G	-	1	0	SNRNP200	96308054	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.531000	0.81973	2.804000	0.96469	0.655000	0.94253	GGC	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252846.2		-	ENST00000323853.5	Missense_Mutation	SNP	2 : 96944327 - 96944327 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	563	49
NXT1	29107	broad.mit.edu	37	20	23335079	23335079	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23335079G>A	ENST00000254998.2	+	2	788	c.401G>A	c.(400-402)cGc>cAc	p.R134H		NM_013248.2	NP_037380.1	Q9UKK6	NXT1_HUMAN	nuclear transport factor 2-like export factor 1	134	NTF2.					cytoplasm|nuclear pore				NS(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GACTGCTTCCGCTTCCAGGAC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	39	40			NA	NA	20		NA											NA				23335079		2203	4300	6503	SO:0001583	missense			AF156957	CCDS13150.1	20p12-p11.2	2014-05-12	2014-05-12		ENSG00000132661	ENSG00000132661	29107	29107			15913	protein-coding gene	gene with protein product		605811	NTX2-like export factor1, NTF2-like export factor 1		NA	10567585, 11259602	Standard	NM_013248	NM_013248	NA	Approved	P15, MTR2	uc002wsx.1	Q9UKK6	OTTHUMG00000032059	ENST00000254998.2:c.401G>A	20.37:g.23335079G>A	ENSP00000254998:p.Arg134His	NA		37	CCDS13150.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105331	0.77096	.	.	ENSG00000132661	ENST00000254998	.	.	.	5.22	2.17	0.27698	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.116909	0.56097	D	0.000030	T	0.81004	0.4733	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.79876	-0.1618	9	0.87932	D	0	.	6.9031	0.24293	0.1619:0.1449:0.6931:0.0	.	134	Q9UKK6	NXT1_HUMAN	H	134	.	ENSP00000254998:R134H	R	+	2	0	NXT1	23283079	1.000000	0.71417	0.940000	0.37924	0.968000	0.65278	9.069000	0.93967	0.438000	0.26450	0.655000	0.94253	CGC	NXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078313.2		+	ENST00000254998.2	Missense_Mutation	SNP	20 : 23335079 - 23335079 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	248	49
ARMC2	84071	broad.mit.edu	37	6	109225603	109225603	+	Missense_Mutation	SNP	C	C	A	rs145604834		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109225603C>A	ENST00000392644.4	+	8	1186	c.1018C>A	c.(1018-1020)Cta>Ata	p.L340I	ARMC2_ENST00000368972.3_Missense_Mutation_p.L175I	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	340							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		AAAAATAATTCTAGCAGTAAG	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	113	113			NA	NA	6		NA											NA				109225603		2203	4300	6503	SO:0001583	missense			BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690	84071	84071		Armadillo repeat containing	23045	protein-coding gene	gene with protein product					NA		Standard	NM_032131	XM_005267154	NA	Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.1018C>A	6.37:g.109225603C>A	ENSP00000376417:p.Leu340Ile	NA	A8K8Y4|Q5VVY8|Q9H0K9	37	CCDS5069.2	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691509	0.88735	.	.	ENSG00000118690	ENST00000368972;ENST00000392644	T;T	0.59224	0.28;0.32	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.76644	0.4016	M	0.83012	2.62	0.54753	D	0.999985	D	0.76494	0.999	D	0.80764	0.994	T	0.78224	-0.2287	10	0.72032	D	0.01	.	20.3465	0.98790	0.0:1.0:0.0:0.0	.	340	Q8NEN0	ARMC2_HUMAN	I	175;340	ENSP00000357968:L175I;ENSP00000376417:L340I	ENSP00000357968:L175I	L	+	1	2	ARMC2	109332296	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.014000	0.57145	2.798000	0.96311	0.655000	0.94253	CTA	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041732.2		+	ENST00000392644.4	Missense_Mutation	SNP	6 : 109225603 - 109225603 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	321	27
TSEN54	283989	broad.mit.edu	37	17	73512857	73512857	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73512857G>A	ENST00000333213.6	+	2	123	c.87G>A	c.(85-87)cgG>cgA	p.R29R	TSEN54_ENST00000580013.1_3'UTR	NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	29					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCGCTCGCGGTCGCAGAAGC	0.771		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													7	9	8			NA	NA	17		NA											NA				73512857		1419	3248	4667	SO:0001819	synonymous_variant			AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173	283989	283989		tRNA splicing endonuclease subunits	27561	protein-coding gene	gene with protein product		608755	tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae), tRNA splicing endonuclease 54 homolog (S. cerevisiae)		NA	15109492	Standard	NM_207346	NM_207346	NA	Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.87G>A	17.37:g.73512857G>A		NA	Q86WV3|Q86XE4|Q8N9H2	37	CCDS11724.1																																																																																			TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447618.1		+	ENST00000333213.6	Silent	SNP	17 : 73512857 - 73512857 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	135	9
C10orf118	0	broad.mit.edu	37	10	115887367	115887367	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115887367G>A	ENST00000369287.3	-	14	2512	c.2246C>T	c.(2245-2247)gCt>gTt	p.A749V	C10orf118_ENST00000543782.1_Missense_Mutation_p.A347V	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN		749										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		GTTATCCACAGCTACTGAGGA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	114	118			NA	NA	10		NA											NA				115887367		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000369287.3:c.2246C>T	10.37:g.115887367G>A	ENSP00000358293:p.Ala749Val	NA	Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	37	CCDS7587.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047970	0.36085	.	.	ENSG00000165813	ENST00000369287;ENST00000543782;ENST00000430353	T	0.24908	1.83	4.89	3.98	0.46160	.	0.247634	0.40640	N	0.001059	T	0.13072	0.0317	N	0.10874	0.06	0.36466	D	0.866974	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.13361	-1.0512	10	0.26408	T	0.33	.	10.9391	0.47262	0.087:0.0:0.913:0.0	.	347;749	F6VCB7;Q7Z3E2	.;CJ118_HUMAN	V	749;347;855	ENSP00000358293:A749V	ENSP00000358293:A749V	A	-	2	0	C10orf118	115877357	1.000000	0.71417	0.934000	0.37439	0.996000	0.88848	6.082000	0.71318	2.251000	0.74343	0.549000	0.68633	GCT	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050455.1		-	ENST00000369287.3	Missense_Mutation	SNP	10 : 115887367 - 115887367 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	334	45
MUC6	4588	broad.mit.edu	37	11	1025023	1025023	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1025023G>A	ENST00000421673.2	-	24	3096	c.3046C>T	c.(3046-3048)Cgc>Tgc	p.R1016C		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1016	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TACCTGCTGCGCGTCTCGAAG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	54	52			NA	NA	11		NA											NA				1025023		2127	4221	6348	SO:0001583	missense			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956	4588	4588		Mucins	7517	protein-coding gene	gene with protein product		158374	mucin 6, gastric		NA	7680650	Standard	XM_290540	NM_005961	NA	Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.3046C>T	11.37:g.1025023G>A	ENSP00000406861:p.Arg1016Cys	NA	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717778	0.30413	.	.	ENSG00000184956	ENST00000421673	T	0.60797	0.16	3.78	3.78	0.43462	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.80014	0.4546	M	0.90309	3.105	0.48830	D	0.999711	D	0.89917	1.0	D	0.87578	0.998	D	0.85651	0.1282	9	0.87932	D	0	.	16.1883	0.81967	0.0:0.0:1.0:0.0	.	1016	Q6W4X9	MUC6_HUMAN	C	1016	ENSP00000406861:R1016C	ENSP00000406861:R1016C	R	-	1	0	MUC6	1015023	0.994000	0.37717	0.080000	0.20451	0.096000	0.18686	2.318000	0.43779	2.124000	0.65301	0.561000	0.74099	CGC	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382120.2		-	ENST00000421673.2	Missense_Mutation	SNP	11 : 1025023 - 1025023 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	211	27
RTP1	132112	broad.mit.edu	37	3	186917808	186917808	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186917808G>A	ENST00000312295.4	+	2	772	c.742G>A	c.(742-744)Gtc>Atc	p.V248I	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	248					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		TTGGGCCACGGTCCTGCTGCT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	86	88			NA	NA	3		NA											NA				186917808		2203	4300	6503	SO:0001583	missense			BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077	132112	132112		Receptor transporter proteins	28580	protein-coding gene	gene with protein product	receptor transporting protein 1, zinc finger, 3CxxC-type 1	609137	receptor transporter protein 1		NA	16271481, 15550249, 16720576	Standard	NM_153708	NM_153708	NA	Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.742G>A	3.37:g.186917808G>A	ENSP00000311712:p.Val248Ile	NA		37	CCDS3287.2	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946158	0.53079	.	.	ENSG00000175077	ENST00000312295	T	0.22539	1.95	5.74	5.74	0.90152	.	0.094831	0.45606	D	0.000347	T	0.15998	0.0385	N	0.24115	0.695	0.28188	N	0.927894	B	0.09022	0.002	B	0.09377	0.004	T	0.08027	-1.0742	10	0.30078	T	0.28	.	15.418	0.74987	0.0:0.0:1.0:0.0	.	248	P59025	RTP1_HUMAN	I	248	ENSP00000311712:V248I	ENSP00000311712:V248I	V	+	1	0	RTP1	188400502	0.851000	0.29673	0.992000	0.48379	0.995000	0.86356	2.129000	0.42055	2.723000	0.93209	0.655000	0.94253	GTC	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313731.2		+	ENST00000312295.4	Missense_Mutation	SNP	3 : 186917808 - 186917808 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	569	15
HEG1	57493	broad.mit.edu	37	3	124739746	124739746	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124739746G>A	ENST00000311127.4	-	4	1209	c.1142C>T	c.(1141-1143)tCg>tTg	p.S381L		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	381						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GTTTCTTCTCGATTCCACTGC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	LEU/SER	1,3847		0,1,1923	94	96	95		1142	-1.7	0	3		95	0,8274		0,0,4137	no	missense	HEG1	NM_020733.1	145	0,1,6060	AA,AG,GG	NA	0.0,0.026,0.0082	benign	381/1382	124739746	1,12121	1924	4137	6061	SO:0001583	missense			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706	57493	57493			29227	protein-coding gene	gene with protein product	heart of glass	614182	HEG homolog 1 (zebrafish)		NA	10574462, 19151727, 23007647	Standard	XM_087386	NM_020733	NA	Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.1142C>T	3.37:g.124739746G>A	ENSP00000311502:p.Ser381Leu	NA	Q6NX66|Q8NC40|Q9BSV0	37	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	G	9.598	1.128058	0.20959	2.6E-4	0.0	ENSG00000173706	ENST00000311127	T	0.42900	0.96	5.02	-1.67	0.08238	.	.	.	.	.	T	0.20414	0.0491	N	0.12746	0.255	0.09310	N	1	B;B	0.14012	0.009;0.005	B;B	0.06405	0.002;0.001	T	0.15521	-1.0434	9	0.34782	T	0.22	.	5.4471	0.16541	0.437:0.1444:0.4187:0.0	.	381;381	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	L	381	ENSP00000311502:S381L	ENSP00000311502:S381L	S	-	2	0	HEG1	126222436	0.000000	0.05858	0.000000	0.03702	0.112000	0.19704	-0.359000	0.07632	-0.588000	0.05882	0.655000	0.94253	TCG	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355732.2		-	ENST00000311127.4	Missense_Mutation	SNP	3 : 124739746 - 124739746 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	217	49
ZNF331	55422	broad.mit.edu	37	19	54074947	54074947	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54074947C>T	ENST00000253144.9	+	6	1432	c.99C>T	c.(97-99)gaC>gaT	p.D33D	ZNF331_ENST00000411977.2_Silent_p.D33D|ZNF331_ENST00000449416.1_Silent_p.D33D|ZNF331_ENST00000511154.1_Silent_p.D33D|ZNF331_ENST00000512387.1_Silent_p.D33D|ZNF331_ENST00000511593.2_Silent_p.D33D|ZNF331_ENST00000513265.1_Silent_p.D33D|ZNF331_ENST00000513999.1_Silent_p.D33D	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	33	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TGTACTGGGACGTGATGCTGG	0.522		NA	T	?	follicular thyroid adenoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		19	19q13.3-q13.4	55422	zinc finger protein 331		E	0													240	227	231			NA	NA	19		NA											NA				54074947		2203	4300	6503	SO:0001819	synonymous_variant			AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844	55422	55422		Zinc fingers, C2H2-type, -	15489	protein-coding gene	gene with protein product	rearranged in thyroid adenomas	606043			NA		Standard	NM_018555	NM_001079906	NA	Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.99C>T	19.37:g.54074947C>T		NA	Q96GJ4	37	CCDS33102.1																																																																																			ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000371366.1		+	ENST00000253144.9	Silent	SNP	19 : 54074947 - 54074947 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1182	216
NPHS1	4868	broad.mit.edu	37	19	36339963	36339963	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36339963T>G	ENST00000378910.5	-	8	926	c.927A>C	c.(925-927)gaA>gaC	p.E309D	NPHS1_ENST00000353632.6_Missense_Mutation_p.E309D	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	309	Ig-like C2-type 3.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCCATGGTCTTCTGGCCTCA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	58	60			NA	NA	19		NA											NA				36339963		2203	4300	6503	SO:0001583	missense				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270	4868	4868		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	7908	protein-coding gene	gene with protein product		602716			NA	9915943, 9660941	Standard		NM_004646	NA	Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.927A>C	19.37:g.36339963T>G	ENSP00000368190:p.Glu309Asp	NA	A6NDH2|C3RX61	37	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.787798	0.49997	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.78003	-1.14;-1.14	5.32	3.09	0.35607	Immunoglobulin subtype (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.117636	0.56097	D	0.000033	T	0.80539	0.4642	L	0.57536	1.79	0.35805	D	0.823421	D	0.71674	0.998	D	0.63033	0.91	T	0.80004	-0.1564	10	0.42905	T	0.14	-17.3468	5.0005	0.14262	0.0:0.4743:0.0:0.5257	.	309	O60500	NPHN_HUMAN	D	309	ENSP00000368190:E309D;ENSP00000343634:E309D	ENSP00000343634:E309D	E	-	3	2	NPHS1	41031803	0.987000	0.35691	1.000000	0.80357	0.443000	0.32047	0.012000	0.13287	0.368000	0.24481	0.378000	0.23410	GAA	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452553.1		-	ENST00000378910.5	Missense_Mutation	SNP	19 : 36339963 - 36339963 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	517	81
OIT3	170392	broad.mit.edu	37	10	74671483	74671483	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:74671483G>T	ENST00000334011.5	+	5	894	c.676G>T	c.(676-678)Gga>Tga	p.G226*		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	226						nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					AGACGTTGAAGGATGCCACAA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(7;19 345 13446 17537)							NA				0													115	107	110			NA	NA	10		NA											NA				74671483		2203	4300	6503	SO:0001587	stop_gained				CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315	170392	170392			29953	protein-coding gene	gene with protein product		609330			NA	12975309, 12939600	Standard	NM_152635	NM_152635	NA	Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.676G>T	10.37:g.74671483G>T	ENSP00000333900:p.Gly226*	NA	A0AVP3|Q8N1M8	37	CCDS7318.1	.	.	.	.	.	.	.	.	.	.	G	38	7.028173	0.98013	.	.	ENSG00000138315	ENST00000334011;ENST00000415725	.	.	.	5.88	5.88	0.94601	.	0.000000	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-17.5693	20.2375	0.98362	0.0:0.0:1.0:0.0	.	.	.	.	X	226	.	ENSP00000333900:G226X	G	+	1	0	OIT3	74341489	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.019000	0.76412	2.790000	0.95986	0.655000	0.94253	GGA	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048596.1		+	ENST00000334011.5	Nonsense_Mutation	SNP	10 : 74671483 - 74671483 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	728	133
WDFY3	23001	broad.mit.edu	37	4	85617954	85617954	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85617954C>T	ENST00000295888.4	-	57	9026	c.8619G>A	c.(8617-8619)aaG>aaA	p.K2873K	WDFY3_ENST00000322366.6_Silent_p.K2856K	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2873	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CATCTCCAAGCTTGGTGCCAT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	112	114			NA	NA	4		NA											NA				85617954		2203	4300	6503	SO:0001819	synonymous_variant			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625	23001	23001		Zinc fingers, FYVE domain containing, WD repeat domain containing	20751	protein-coding gene	gene with protein product					NA	10231032	Standard	NM_014991	NM_014991	NA	Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.8619G>A	4.37:g.85617954C>T		NA	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	37	CCDS3609.1																																																																																			WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252811.2		-	ENST00000295888.4	Silent	SNP	4 : 85617954 - 85617954 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	381	57
SLC13A5	284111	broad.mit.edu	37	17	6597450	6597450	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6597450C>A	ENST00000433363.2	-	8	1355	c.1122G>T	c.(1120-1122)aaG>aaT	p.K374N	SLC13A5_ENST00000293800.6_Missense_Mutation_p.K357N|SLC13A5_ENST00000381074.4_Missense_Mutation_p.K331N|SLC13A5_ENST00000573648.1_Missense_Mutation_p.K374N	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	374						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						TAAACTTGGGCTTCTGTGAAG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	78	84			NA	NA	17		NA											NA				6597450		2203	4300	6503	SO:0001583	missense			AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485	284111	284111		Solute carriers	23089	protein-coding gene	gene with protein product		608305			NA	12445824	Standard	NM_177550	NM_001284510	NA	Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.1122G>T	17.37:g.6597450C>A	ENSP00000406220:p.Lys374Asn	NA	Q6ZMG1	37	CCDS11079.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545704	0.65198	.	.	ENSG00000141485	ENST00000293800;ENST00000433363;ENST00000381074	T;T	0.05717	3.81;3.4	5.61	4.63	0.57726	.	0.229422	0.49916	D	0.000132	T	0.09992	0.0245	L	0.54965	1.715	0.38078	D	0.93658	P;P;P;P	0.47034	0.592;0.889;0.592;0.592	P;P;P;P	0.49140	0.601;0.543;0.601;0.482	T	0.04607	-1.0939	10	0.28530	T	0.3	.	7.884	0.29640	0.0:0.8298:0.0:0.1702	.	374;331;357;374	B7ZLB4;F8W7N2;B3KXR0;Q86YT5	.;.;.;S13A5_HUMAN	N	374;374;331	ENSP00000406220:K374N;ENSP00000370464:K331N	ENSP00000293800:K374N	K	-	3	2	SLC13A5	6538174	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.272000	0.33109	2.815000	0.96918	0.561000	0.74099	AAG	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219853.2		-	ENST00000433363.2	Missense_Mutation	SNP	17 : 6597450 - 6597450 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	185	21
KDM4D	55693	broad.mit.edu	37	11	94731922	94731922	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94731922T>G	ENST00000335080.5	+	3	2218	c.1386T>G	c.(1384-1386)gcT>gcG	p.A462A	KDM4D_ENST00000536741.1_Silent_p.A462A	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	462					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AACTGAGAGCTCAGGAGCTGA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	48	46			NA	NA	11		NA											NA				94731922		2201	4298	6499	SO:0001819	synonymous_variant			AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280	55693	55693		Chromatin-modifying enzymes / K-demethylases	25498	protein-coding gene	gene with protein product		609766	jumonji domain containing 2D	JMJD2D	NA	15138608	Standard	NM_018039	NM_018039	NA	Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.1386T>G	11.37:g.94731922T>G		NA	B3KPC4|Q0VF39|Q9NT41|Q9NW76	37	CCDS8302.1																																																																																			KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396558.2		+	ENST00000335080.5	Silent	SNP	11 : 94731922 - 94731922 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	440	93
SMEK1	55671	broad.mit.edu	37	14	91929101	91929101	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91929101G>A	ENST00000554684.1	-	12	2408	c.1912C>T	c.(1912-1914)Caa>Taa	p.Q638*	SMEK1_ENST00000554943.1_Nonsense_Mutation_p.Q651*|SMEK1_ENST00000428424.2_Nonsense_Mutation_p.Q412*|SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000555462.1_Nonsense_Mutation_p.Q412*|SMEK1_ENST00000337238.4_Nonsense_Mutation_p.Q638*	NM_001284280.1	NP_001271209.1	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	651						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		GGATTATCTTGCCTTTCTCTT	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													237	238	238			NA	NA	14		NA											NA				91929101		2202	4300	6502	SO:0001587	stop_gained			AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796	55671	55671			20219	protein-coding gene	gene with protein product		610351	KIAA2010	KIAA2010	NA	16085932, 18487071	Standard	NM_032560	XM_005267842	NA	Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554684.1:c.1912C>T	14.37:g.91929101G>A	ENSP00000450864:p.Gln638*	NA	Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	37	CCDS9895.1	.	.	.	.	.	.	.	.	.	.	G	43	10.496534	0.99416	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-12.4584	19.3709	0.94484	0.0:0.0:1.0:0.0	.	.	.	.	X	638;638;412;651;412;638	.	ENSP00000337125:Q638X	Q	-	1	0	SMEK1	90998854	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.756000	0.98918	2.576000	0.86940	0.655000	0.94253	CAA	SMEK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411664.1		-	ENST00000554684.1	Nonsense_Mutation	SNP	14 : 91929101 - 91929101 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	453	36
SH3TC1	54436	broad.mit.edu	37	4	8221133	8221133	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8221133G>A	ENST00000245105.3	+	9	1055	c.988G>A	c.(988-990)Gac>Aac	p.D330N	SH3TC1_ENST00000539824.1_Missense_Mutation_p.D254N	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	330	SH3.						binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCGAGGTGGCGACCTCATCGA	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(145;2298 2623 35616 37297)							NA				0													51	56	54			NA	NA	4		NA											NA				8221133		2202	4300	6502	SO:0001583	missense			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089	54436	54436		Tetratricopeptide (TTC) repeat domain containing	26009	protein-coding gene	gene with protein product					NA		Standard	NM_018986	NM_018986	NA	Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.988G>A	4.37:g.8221133G>A	ENSP00000245105:p.Asp330Asn	NA	Q4W5G5	37	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710603	0.68730	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265;ENST00000508641	T;T;T	0.27104	1.69;1.69;1.69	4.21	4.21	0.49690	Src homology-3 domain (3);	0.140683	0.45606	D	0.000346	T	0.48295	0.1492	M	0.67397	2.05	0.29588	N	0.848666	D	0.89917	1.0	D	0.87578	0.998	T	0.49744	-0.8907	10	0.87932	D	0	-26.9103	13.7276	0.62767	0.0:0.0:1.0:0.0	.	330	Q8TE82	S3TC1_HUMAN	N	68;330;254;159;139	ENSP00000245105:D330N;ENSP00000441045:D254N;ENSP00000426035:D139N	ENSP00000245105:D330N	D	+	1	0	SH3TC1	8272033	1.000000	0.71417	0.039000	0.18376	0.452000	0.32318	6.722000	0.74735	1.893000	0.54813	0.491000	0.48974	GAC	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206991.2		+	ENST00000245105.3	Missense_Mutation	SNP	4 : 8221133 - 8221133 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	569	112
KDM1B	221656	broad.mit.edu	37	6	18215342	18215342	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18215342G>T	ENST00000297792.5	+	16	1695	c.1518G>T	c.(1516-1518)cgG>cgT	p.R506R	KDM1B_ENST00000397244.1_Silent_p.R507R|KDM1B_ENST00000388870.2_Silent_p.R739R|KDM1B_ENST00000546309.2_Silent_p.R29R			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	738					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						CCACGCTCCGGGAGCTGTTCA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	50	51			NA	NA	6		NA											NA				18215342		2203	4300	6503	SO:0001819	synonymous_variant			AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097	221656	221656		Chromatin-modifying enzymes / K-demethylases	21577	protein-coding gene	gene with protein product		613081	amine oxidase, flavin containing 1, chromosome 6 open reading frame 193, amine oxidase (flavin containing) domain 1	C6orf193, AOF1	NA	19407342, 19727073	Standard	NM_153042	NM_153042	NA	Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1518G>T	6.37:g.18215342G>T		NA	A2A2C5|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	37	CCDS34343.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.234472	0.22626	.	.	ENSG00000165097	ENST00000449850	.	.	.	5.99	3.09	0.35607	.	.	.	.	.	T	0.30665	0.0772	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.15549	-1.0433	4	.	.	.	-16.0584	3.8774	0.09062	0.1203:0.4065:0.3342:0.139	.	.	.	.	V	556	.	.	G	+	2	0	KDM1B	18323321	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	1.073000	0.30691	0.352000	0.24053	0.650000	0.86243	GGG	KDM1B-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277080.1		+	ENST00000297792.5	Silent	SNP	6 : 18215342 - 18215342 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	221	33
BLM	641	broad.mit.edu	37	15	91328228	91328228	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91328228G>A	ENST00000560509.1	+	14	2791	c.2740G>A	c.(2740-2742)Gct>Act	p.A914T	BLM_ENST00000355112.3_Missense_Mutation_p.A914T|BLM_ENST00000560136.1_3'UTR			P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	914	Helicase C-terminal.				double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AGATGGGCTCGCTGCTCTTGC	0.473		NA	Mis, N, F			leukemia, lymphoma, skin squamous cell , other cancers		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		L, E	0								G	THR/ALA	0,4396		0,0,2198	102	92	96		2740	4	0.6	15		96	2,8594	2.2+/-6.3	0,2,4296	no	missense	BLM	NM_000057.2	58	0,2,6494	AA,AG,GG	NA	0.0233,0.0,0.0154	benign	914/1418	91328228	2,12990	2198	4298	6496	SO:0001583	missense	Familial Cancer Database		U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299	641	641			1058	protein-coding gene	gene with protein product		604610	Bloom syndrome		NA	9388193	Standard		NM_000057	NA	Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000560509.1:c.2740G>A	15.37:g.91328228G>A	ENSP00000454158:p.Ala914Thr	NA	Q52M96	37		.	.	.	.	.	.	.	.	.	.	G	9.047	0.991236	0.18966	0.0	2.33E-4	ENSG00000197299	ENST00000355112;ENST00000543977	T	0.74947	-0.89	5.84	3.95	0.45737	Helicase, C-terminal (3);	0.299378	0.36665	N	0.002465	T	0.59595	0.2205	N	0.17474	0.49	0.36005	D	0.837663	B;B;B	0.24721	0.015;0.11;0.032	B;B;B	0.29942	0.034;0.109;0.034	T	0.60026	-0.7343	10	0.34782	T	0.22	-14.9564	11.2575	0.49063	0.0:0.138:0.7184:0.1436	.	914;539;914	B2RAN0;B7ZKN7;P54132	.;.;BLM_HUMAN	T	914;101	ENSP00000347232:A914T	ENSP00000347232:A914T	A	+	1	0	BLM	89129232	0.252000	0.23972	0.647000	0.29507	0.050000	0.14768	1.471000	0.35365	0.801000	0.34066	-0.152000	0.13540	GCT	BLM-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000417940.1		+	ENST00000560509.1	Missense_Mutation	SNP	15 : 91328228 - 91328228 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	74
KIAA0319	9856	broad.mit.edu	37	6	24572854	24572854	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24572854C>A	ENST00000378214.3	-	11	2331	c.1807G>T	c.(1807-1809)Gat>Tat	p.D603Y	KIAA0319_ENST00000537886.1_Missense_Mutation_p.D603Y|KIAA0319_ENST00000535378.1_Missense_Mutation_p.D594Y|KIAA0319_ENST00000543707.1_Missense_Mutation_p.D603Y|KIAA0319_ENST00000430948.2_Missense_Mutation_p.D558Y	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	603	PKD 3.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTTGAAGAATCTGTCACCTTC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	118	126			NA	NA	6		NA											NA				24572854		2203	4300	6503	SO:0001583	missense			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261	9856	9856			21580	protein-coding gene	gene with protein product	neuronal migration	609269			NA	9205841, 15514892	Standard	NM_014809	NM_014809	NA	Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.1807G>T	6.37:g.24572854C>A	ENSP00000367459:p.Asp603Tyr	NA	A7MD37|B2RTU7|B4DHA7|B4DK75|Q9UJC8|Q9Y4G7	37	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.838829	0.71373	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16	4.31	4.31	0.51392	PKD/Chitinase domain (1);Fibronectin, type III (1);PKD/REJ-like protein (1);PKD domain (3);	0.075859	0.52532	D	0.000064	T	0.59128	0.2171	H	0.98314	4.2	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.78226	-0.2286	10	0.87932	D	0	-16.8604	16.9707	0.86298	0.0:1.0:0.0:0.0	.	603;594;603	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	Y	603;594;558;603;603	ENSP00000439700:D603Y;ENSP00000442403:D594Y;ENSP00000401086:D558Y;ENSP00000367459:D603Y;ENSP00000437656:D603Y	ENSP00000367459:D603Y	D	-	1	0	KIAA0319	24680833	1.000000	0.71417	0.996000	0.52242	0.603000	0.37013	6.823000	0.75282	2.207000	0.71202	0.655000	0.94253	GAT	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040009.1		-	ENST00000378214.3	Missense_Mutation	SNP	6 : 24572854 - 24572854 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	63
C5orf42	65250	broad.mit.edu	37	5	37187589	37187589	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37187589C>T	ENST00000508244.1	-	22	4100	c.4007G>A	c.(4006-4008)cGg>cAg	p.R1336Q	C5orf42_ENST00000425232.2_Missense_Mutation_p.R1336Q|C5orf42_ENST00000274258.7_Missense_Mutation_p.R217Q			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1336										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ATTAAAAAACCGAGAGAAAGG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	81	81			NA	NA	5		NA											NA				37187589		2203	4300	6503	SO:0001583	missense				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603	65250	65250			25801	protein-coding gene	gene with protein product		614571			NA	22264561	Standard	NM_023073	NM_023073	NA	Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.4007G>A	5.37:g.37187589C>T	ENSP00000421690:p.Arg1336Gln	NA		37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	35	5.421270	0.96111	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.27256	1.72;1.72;1.68;1.69	5.53	5.53	0.82687	.	0.000000	0.40640	N	0.001043	T	0.40694	0.1127	N	0.24115	0.695	0.35035	D	0.759169	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.49542	-0.8929	10	0.62326	D	0.03	.	19.824	0.96608	0.0:1.0:0.0:0.0	.	1336;217	E9PH94;Q9H799	.;CE042_HUMAN	Q	1336;1336;217;384;217	ENSP00000421690:R1336Q;ENSP00000389014:R1336Q;ENSP00000274258:R217Q;ENSP00000424223:R384Q	ENSP00000274258:R217Q	R	-	2	0	C5orf42	37223346	0.998000	0.40836	0.998000	0.56505	0.977000	0.68977	3.992000	0.56980	2.755000	0.94549	0.491000	0.48974	CGG	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360806.1		-	ENST00000508244.1	Missense_Mutation	SNP	5 : 37187589 - 37187589 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	43
AP1M1	8907	broad.mit.edu	37	19	16314368	16314368	+	Silent	SNP	G	G	A	rs146062531	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16314368G>A	ENST00000429941.2	+	2	257	c.141G>A	c.(139-141)tcG>tcA	p.S47S	AP1M1_ENST00000291439.3_Silent_p.S47S|AP1M1_ENST00000444449.2_Silent_p.S47S|AP1M1_ENST00000541844.1_Intron|AP1M1_ENST00000590756.1_Intron			Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	47					cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						GGATGCTGTCGCCCATCCTGG	0.597		NA											G	2	9e-04	0.002	0.0028	2184	NA	0.9998	,	,	NA	5e-04	NA	NA	NA	9e-04	0.8864	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0								G	,	3,4403	6.2+/-15.9	0,3,2200	95	85	88		141,141	-9.2	0.2	19	dbSNP_134	88	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	AP1M1	NM_001130524.1,NM_032493.3	,	0,3,6500	AA,AG,GG	NA	0.0,0.0681,0.0231	,	47/436,47/424	16314368	3,13003	2203	4300	6503	SO:0001819	synonymous_variant				CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23					8907	8907			13667	protein-coding gene	gene with protein product		603535			NA	9653655, 17988225	Standard	NM_032493	NM_032493	NA	Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000429941.2:c.141G>A	19.37:g.16314368G>A		NA		37																																																																																				AP1M1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000460495.1		+	ENST00000429941.2	Silent	SNP	19 : 16314368 - 16314368 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	449	68
TYMS	7298	broad.mit.edu	37	18	672975	672975	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:672975T>G	ENST00000323224.7	+	6	818	c.818T>G	c.(817-819)aTt>aGt	p.I273S	TYMS_ENST00000581920.1_3'UTR|ENOSF1_ENST00000383578.3_3'UTR|ENOSF1_ENST00000319815.6_3'UTR|TYMS_ENST00000323274.10_Missense_Mutation_p.I307S|TYMS_ENST00000323250.5_Missense_Mutation_p.I224S			P04818	TYSY_HUMAN	thymidylate synthetase	307					DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity			endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)	CATCCAACTATTAAAATGGAA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	98	96			NA	NA	18		NA											NA				672975		2203	4300	6503	SO:0001583	missense			X02308	CCDS11821.1	18p11.31-p11.21	2014-09-17			ENSG00000176890	ENSG00000176890	7298	7298	2.1.1.45		12441	protein-coding gene	gene with protein product		188350		TS	NA		Standard	NM_001071	NM_001071	NA	Approved	Tsase, TMS, HsT422	uc010dka.1	P04818	OTTHUMG00000131473	ENST00000323224.7:c.818T>G	18.37:g.672975T>G	ENSP00000314727:p.Ile273Ser	NA		37		.	.	.	.	.	.	.	.	.	.	T	20.4	3.986971	0.74589	.	.	ENSG00000176890	ENST00000323274;ENST00000323224;ENST00000323250	.	.	.	5.9	5.9	0.94986	Thymidylate synthase/dCMP hydroxymethylase domain (2);	0.044615	0.85682	D	0.000000	D	0.91402	0.7287	H	0.99573	4.635	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.81914	0.995;0.979;0.994	D	0.95074	0.8207	9	0.87932	D	0	-14.2036	16.3101	0.82865	0.0:0.0:0.0:1.0	.	224;273;307	Q8WYK4;Q8WYK3;P04818	.;.;TYSY_HUMAN	S	307;273;224	.	ENSP00000314727:I273S	I	+	2	0	TYMS	662975	1.000000	0.71417	0.983000	0.44433	0.995000	0.86356	7.758000	0.85224	2.247000	0.74100	0.528000	0.53228	ATT	TYMS-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000441157.2		+	ENST00000323224.7	Missense_Mutation	SNP	18 : 672975 - 672975 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	807	123
CUL7	9820	broad.mit.edu	37	6	43015930	43015930	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43015930C>T	ENST00000265348.3	-	9	2210	c.2125G>A	c.(2125-2127)Gat>Aat	p.D709N	CUL7_ENST00000535468.1_Missense_Mutation_p.D793N			Q14999	CUL7_HUMAN	cullin 7	709					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ATGCAGGCATCCACGGCCTCG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	43	43			NA	NA	6		NA											NA				43015930		2203	4300	6503	SO:0001583	missense			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090	9820	9820			21024	protein-coding gene	gene with protein product		609577	KIAA0076	KIAA0076	NA	12481031, 12904573	Standard	NM_014780	NM_014780	NA	Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.2125G>A	6.37:g.43015930C>T	ENSP00000265348:p.Asp709Asn	NA	Q5T654	37	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665082	0.67700	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.65549	-0.16;-0.16	4.19	2.13	0.27403	Armadillo-like helical (1);	0.282093	0.38605	N	0.001636	T	0.33059	0.0850	L	0.36672	1.1	0.80722	D	1	B;B	0.31548	0.328;0.311	B;B	0.34242	0.178;0.15	T	0.21381	-1.0247	10	0.41790	T	0.15	-21.882	7.6878	0.28550	0.1593:0.7418:0.0:0.0989	.	793;709	F5H0L1;Q14999	.;CUL7_HUMAN	N	709;793	ENSP00000265348:D709N;ENSP00000438788:D793N	ENSP00000265348:D709N	D	-	1	0	CUL7	43123908	1.000000	0.71417	0.950000	0.38849	0.925000	0.55904	3.089000	0.50183	1.044000	0.40200	0.655000	0.94253	GAT	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040575.1		-	ENST00000265348.3	Missense_Mutation	SNP	6 : 43015930 - 43015930 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	276	53
MEOX1	4222	broad.mit.edu	37	17	41738457	41738457	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41738457G>A	ENST00000318579.4	-	1	865	c.446C>T	c.(445-447)tCc>tTc	p.S149F	MEOX1_ENST00000329168.3_Missense_Mutation_p.S149F|MEOX1_ENST00000393661.2_Missense_Mutation_p.S34F|MEOX1_ENST00000549132.1_Missense_Mutation_p.P120S	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	149						nucleus	sequence-specific DNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		TCTCCGCCTGGATGATTTCTT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													197	197	197			NA	NA	17		NA											NA				41738457		2203	4300	6503	SO:0001583	missense				CCDS11466.1, CCDS11467.1, CCDS42343.1	17q21.31	2014-07-15	2005-12-22				4222	4222		Homeoboxes / ANTP class : HOXL subclass	7013	protein-coding gene	gene with protein product		600147	mesenchyme homeo box 1		NA	7987315	Standard		NM_013999	NA	Approved	MOX1	uc002idz.3	P50221	OTTHUMG00000170513	ENST00000318579.4:c.446C>T	17.37:g.41738457G>A	ENSP00000321684:p.Ser149Phe	NA		37	CCDS11466.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.15|15.15	2.748940|2.748940	0.49257|0.49257	.|.	.|.	ENSG00000005102|ENSG00000005102	ENST00000549132|ENST00000318579;ENST00000329168;ENST00000393661	.|D;T;D	.|0.91996	.|-2.95;0.42;-2.91	4.99|4.99	2.95|2.95	0.34219|0.34219	.|.	.|0.711794	.|0.14610	.|N	.|0.309064	D|D	0.91071|0.91071	0.7190|0.7190	L|L	0.42245|0.42245	1.32|1.32	0.39430|0.39430	D|D	0.967062|0.967062	.|P;P	.|0.46220	.|0.874;0.523	.|P;B	.|0.51355	.|0.667;0.429	D|D	0.89161|0.89161	0.3530|0.3530	6|10	0.87932|0.72032	D|D	0|0.01	-11.643|-11.643	9.0032|9.0032	0.36094|0.36094	0.0785:0.147:0.7746:0.0|0.0785:0.147:0.7746:0.0	.|.	.|149;149	.|Q15069;P50221	.|.;MEOX1_HUMAN	S|F	120|149;149;34	.|ENSP00000321684:S149F;ENSP00000328678:S149F;ENSP00000377271:S34F	ENSP00000449049:P120S|ENSP00000321684:S149F	P|S	-|-	1|2	0|0	MEOX1|MEOX1	39093983|39093983	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.997000|0.997000	0.91878|0.91878	2.401000|2.401000	0.44513|0.44513	0.666000|0.666000	0.31087|0.31087	0.655000|0.655000	0.94253|0.94253	CCA|TCC	MEOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409452.1		-	ENST00000318579.4	Missense_Mutation	SNP	17 : 41738457 - 41738457 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1511	255
EXD3	54932	broad.mit.edu	37	9	140267392	140267392	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140267392C>T	ENST00000340951.4	-	5	622	c.427G>A	c.(427-429)Gtc>Atc	p.V143I	EXD3_ENST00000342129.4_5'UTR|EXD3_ENST00000479452.1_Missense_Mutation_p.V143I|EXD3_ENST00000475006.1_5'UTR	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	143					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						AGGCGGTGGACGTGTGCCAGC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	38	36			NA	NA	9		NA											NA				140267392		2085	4209	6294	SO:0001583	missense				CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609	54932	54932			26023	protein-coding gene	gene with protein product					NA		Standard	NM_017820	XM_005266093	NA	Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.427G>A	9.37:g.140267392C>T	ENSP00000340474:p.Val143Ile	NA	B8A4U7|C9JIQ9|Q2TAK4|Q8N3X4|Q8NHD1|Q96NP1	37	CCDS48066.1	.	.	.	.	.	.	.	.	.	.	C	0.081	-1.183685	0.01620	.	.	ENSG00000187609	ENST00000340951;ENST00000479452	T;T	0.52526	0.66;1.15	4.3	-1.78	0.07957	.	0.535908	0.19500	N	0.112760	T	0.28863	0.0716	L	0.43152	1.355	0.18873	N	0.999988	B;B	0.31968	0.195;0.349	B;B	0.17722	0.008;0.019	T	0.17471	-1.0368	10	0.19590	T	0.45	.	8.4683	0.32969	0.0:0.5041:0.0:0.4959	.	143;143	Q8N9H8-4;Q8N9H8	.;MUT7_HUMAN	I	143	ENSP00000340474:V143I;ENSP00000431859:V143I	ENSP00000340474:V143I	V	-	1	0	EXD3	139387213	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.175000	0.09825	-0.873000	0.04032	0.313000	0.20887	GTC	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343182.1		-	ENST00000340951.4	Missense_Mutation	SNP	9 : 140267392 - 140267392 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	327	18
CRYBB2	1415	broad.mit.edu	37	22	25627693	25627693	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25627693G>A	ENST00000398215.2	+	6	743	c.572G>A	c.(571-573)cGc>cAc	p.R191H		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	191	Beta/gamma crystallin 'Greek key' 4.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						CGCCGTATCCGCGACATGCAG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	86	93			NA	NA	22		NA											NA				25627693		2203	4300	6503	SO:0001583	missense				CCDS13831.1	22q11.23	2008-06-10			ENSG00000244752	ENSG00000244752	1415	1415			2398	protein-coding gene	gene with protein product		123620		CCA2, CRYB2A, CRYB2	NA	9158139, 8224918	Standard	NM_000496	XM_006724141	NA	Approved		uc003abp.1	P43320	OTTHUMG00000150905	ENST00000398215.2:c.572G>A	22.37:g.25627693G>A	ENSP00000381273:p.Arg191His	NA	Q9UCM8	37	CCDS13831.1	.	.	.	.	.	.	.	.	.	.	g	12.19	1.863202	0.32884	.	.	ENSG00000244752	ENST00000398215	T	0.76316	-1.01	3.98	3.98	0.46160	Beta/gamma crystallin (2);Gamma-crystallin-related (1);	0.057317	0.64402	D	0.000002	T	0.76842	0.4044	M	0.83692	2.655	0.58432	D	0.999999	P	0.43750	0.816	B	0.36030	0.216	T	0.79888	-0.1613	10	0.36615	T	0.2	.	15.0574	0.71925	0.0:0.0:1.0:0.0	.	191	P43320	CRBB2_HUMAN	H	191	ENSP00000381273:R191H	ENSP00000381273:R191H	R	+	2	0	CRYBB2	23957693	1.000000	0.71417	0.955000	0.39395	0.003000	0.03518	5.905000	0.69893	1.763000	0.52060	0.462000	0.41574	CGC	CRYBB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320350.1		+	ENST00000398215.2	Missense_Mutation	SNP	22 : 25627693 - 25627693 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	706	110
LRIG2	9860	broad.mit.edu	37	1	113666508	113666508	+	Missense_Mutation	SNP	C	C	T	rs151009293		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113666508C>T	ENST00000361127.5	+	18	3181	c.2983C>T	c.(2983-2985)Cgg>Tgg	p.R995W	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	NA						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AACATTGCAGCGGCCCGTGTG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	55	47	50		2983	5.9	0.4	1	dbSNP_134	50	0,8600		0,0,4300	no	missense	LRIG2	NM_014813.1	101	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging	995/1066	113666508	1,13005	2203	4300	6503	SO:0001583	missense			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799	9860	9860		Immunoglobulin superfamily / I-set domain containing	20889	protein-coding gene	gene with protein product		608869			NA		Standard	NM_014813	XM_005271369	NA	Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2983C>T	1.37:g.113666508C>T	ENSP00000355396:p.Arg995Trp	NA	Q9NSN2	37	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	C	9.892	1.204530	0.22205	2.27E-4	0.0	ENSG00000198799	ENST00000361127	T	0.66099	-0.19	5.9	5.9	0.94986	.	0.411554	0.20917	N	0.083346	T	0.45617	0.1351	L	0.56769	1.78	0.31206	N	0.699241	D	0.56968	0.978	B	0.36504	0.226	T	0.59359	-0.7469	10	0.66056	D	0.02	.	17.1936	0.86887	0.0:0.8743:0.1257:0.0	.	995	O94898	LRIG2_HUMAN	W	995	ENSP00000355396:R995W	ENSP00000355396:R995W	R	+	1	2	LRIG2	113468031	0.996000	0.38824	0.385000	0.26158	0.017000	0.09413	1.389000	0.34453	2.798000	0.96311	0.650000	0.86243	CGG	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033549.2		+	ENST00000361127.5	Missense_Mutation	SNP	1 : 113666508 - 113666508 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	152	32
NLRC5	84166	broad.mit.edu	37	16	57068112	57068112	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57068112C>T	ENST00000262510.6	+	13	2801	c.2576C>T	c.(2575-2577)gCg>gTg	p.A859V	NLRC5_ENST00000308149.7_Missense_Mutation_p.A859V|NLRC5_ENST00000539144.1_Missense_Mutation_p.A859V|NLRC5_ENST00000436936.1_Missense_Mutation_p.A859V	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	859					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GTCCACGATGCGGAGGCCCTC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	45	49			NA	NA	16		NA											NA				57068112		2198	4300	6498	SO:0001583	missense			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853	84166	84166		Nucleotide-binding domain and leucine rich repeat containing	29933	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5, NOD-like receptor C5	613537			NA	12615073	Standard	NM_032206	NM_032206	NA	Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.2576C>T	16.37:g.57068112C>T	ENSP00000262510:p.Ala859Val	NA	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	37	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.918783	0.33908	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030	T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6	4.82	0.146	0.14833	.	1.318100	0.05844	N	0.619853	T	0.25044	0.0608	N	0.05124	-0.11	0.09310	N	1	P;P;B;B	0.37061	0.58;0.542;0.375;0.051	B;B;B;B	0.33890	0.144;0.172;0.089;0.014	T	0.07673	-1.0760	10	0.06365	T	0.9	.	7.0124	0.24869	0.0:0.4574:0.0:0.5426	.	859;859;859;859	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.;.;.;NLRC5_HUMAN	V	859;859;859;333;859;366;158	ENSP00000262510:A859V;ENSP00000308886:A859V;ENSP00000389739:A859V;ENSP00000441727:A859V;ENSP00000441597:A366V;ENSP00000440153:A158V	ENSP00000262510:A859V	A	+	2	0	NLRC5	55625613	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.010000	0.03656	-0.157000	0.11059	-1.244000	0.01528	GCG	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257346.1		+	ENST00000262510.6	Missense_Mutation	SNP	16 : 57068112 - 57068112 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	181	22
WASF1	8936	broad.mit.edu	37	6	110423106	110423106	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:110423106C>T	ENST00000392589.1	-	10	2043	c.1207G>A	c.(1207-1209)Gct>Act	p.A403T	WASF1_ENST00000392586.1_Missense_Mutation_p.A403T|WASF1_ENST00000392588.1_Missense_Mutation_p.A403T|WASF1_ENST00000359451.2_Missense_Mutation_p.A403T|WASF1_ENST00000392587.2_Missense_Mutation_p.A403T	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	403					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		ACTGGGGCAGCTCTAGCTACT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	93	93			NA	NA	6		NA											NA				110423106		2203	4300	6503	SO:0001583	missense			D87459	CCDS5080.1	6q21	2010-08-20			ENSG00000112290	ENSG00000112290	8936	8936		A-kinase anchor proteins	12732	protein-coding gene	gene with protein product		605035			NA	9843499, 9889097	Standard	NM_003931	XM_005267204	NA	Approved	WAVE1, SCAR1, KIAA0269, WAVE	uc003pty.1	Q92558	OTTHUMG00000015357	ENST00000392589.1:c.1207G>A	6.37:g.110423106C>T	ENSP00000376368:p.Ala403Thr	NA	E1P5F2|Q5SZK7	37	CCDS5080.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830312	0.50845	.	.	ENSG00000112290	ENST00000392586;ENST00000392587;ENST00000392589;ENST00000392588;ENST00000359451	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.56	5.56	0.83823	.	0.643630	0.16262	N	0.222188	T	0.15869	0.0382	N	0.08118	0	0.41624	D	0.988985	B	0.06786	0.001	B	0.06405	0.002	T	0.13176	-1.0519	10	0.11485	T	0.65	.	19.5397	0.95270	0.0:1.0:0.0:0.0	.	403	Q92558	WASF1_HUMAN	T	403	ENSP00000376365:A403T;ENSP00000376366:A403T;ENSP00000376368:A403T;ENSP00000376367:A403T;ENSP00000352425:A403T	ENSP00000352425:A403T	A	-	1	0	WASF1	110529799	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.282000	0.51693	2.623000	0.88846	0.655000	0.94253	GCT	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041784.3		-	ENST00000392589.1	Missense_Mutation	SNP	6 : 110423106 - 110423106 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	322	64
DMGDH	29958	broad.mit.edu	37	5	78328588	78328588	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78328588G>A	ENST00000255189.3	-	9	1467	c.1439C>T	c.(1438-1440)tCt>tTt	p.S480F	DMGDH_ENST00000380311.4_Missense_Mutation_p.S279F|DMGDH_ENST00000540686.1_Missense_Mutation_p.S100F	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	480					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GGAACACTTAGACTCCAGCCT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	131	130			NA	NA	5		NA											NA				78328588		2203	4300	6503	SO:0001583	missense			AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	29958	29958	1.5.99.2		24475	protein-coding gene	gene with protein product		605849			NA	10767172, 11231903	Standard	NM_013391	NM_013391	NA	Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.1439C>T	5.37:g.78328588G>A	ENSP00000255189:p.Ser480Phe	NA	B2RBN0	37	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828160	0.50845	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000540686;ENST00000539598	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	5.27	5.27	0.74061	.	0.351137	0.32836	N	0.005583	T	0.79082	0.4386	N	0.24115	0.695	0.29117	N	0.88048	P;P;P;P	0.48089	0.833;0.905;0.739;0.621	B;P;B;B	0.46110	0.252;0.504;0.382;0.212	T	0.77286	-0.2644	10	0.56958	D	0.05	.	18.9135	0.92494	0.0:0.0:1.0:0.0	.	100;279;330;480	B4E1J9;F8W6P8;F5H1C7;Q9UI17	.;.;.;M2GD_HUMAN	F	480;319;279;100;330	ENSP00000255189:S480F;ENSP00000430972:S319F;ENSP00000369667:S279F;ENSP00000439478:S100F	ENSP00000255189:S480F	S	-	2	0	DMGDH	78364344	0.992000	0.36948	0.669000	0.29828	0.682000	0.39822	4.265000	0.58865	2.465000	0.83290	0.655000	0.94253	TCT	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226963.3		-	ENST00000255189.3	Missense_Mutation	SNP	5 : 78328588 - 78328588 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1034	212
GFM2	84340	broad.mit.edu	37	5	74026139	74026139	+	Missense_Mutation	SNP	C	C	T	rs146794329		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74026139C>T	ENST00000296805.3	-	17	2129	c.1672G>A	c.(1672-1674)Ggg>Agg	p.G558R	GFM2_ENST00000345239.2_Missense_Mutation_p.G511R|GFM2_ENST00000515125.1_Intron|GFM2_ENST00000509430.1_Missense_Mutation_p.G558R	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	558					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity	p.G558W(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TGGAGAGGCCCGAGATAGGTC	0.433		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)						C	ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	113	107	109		1672,1531	5.6	1	5	dbSNP_134	109	0,8600		0,0,4300	no	missense,missense	GFM2	NM_032380.3,NM_170691.1	125,125	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging	558/780,511/733	74026139	1,13005	2203	4300	6503	SO:0001583	missense			AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347	84340	84340			29682	protein-coding gene	gene with protein product		606544			NA	11735030	Standard	NM_032380	NM_001281302	NA	Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.1672G>A	5.37:g.74026139C>T	ENSP00000296805:p.Gly558Arg	NA	A0AR28|Q8N6D8|Q8WYI0|Q9H6Z1	37	CCDS4023.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842168	0.91197	2.27E-4	0.0	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000509430	T;T;T	0.74209	-0.82;-0.82;-0.82	5.64	5.64	0.86602	Elongation factor G/III/V (1);	0.000000	0.85682	D	0.000000	D	0.85124	0.5625	L	0.60845	1.875	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	D	0.85779	0.1360	10	0.87932	D	0	-13.6338	19.7116	0.96098	0.0:1.0:0.0:0.0	.	558;511;558	Q969S9-3;Q969S9-2;Q969S9	.;.;RRF2M_HUMAN	R	558;511;558	ENSP00000296805:G558R;ENSP00000296804:G511R;ENSP00000427004:G558R	ENSP00000296805:G558R	G	-	1	0	GFM2	74061895	1.000000	0.71417	0.992000	0.48379	0.707000	0.40811	7.595000	0.82710	2.673000	0.90976	0.555000	0.69702	GGG	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219860.2		-	ENST00000296805.3	Missense_Mutation	SNP	5 : 74026139 - 74026139 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	351	69
C2orf71	388939	broad.mit.edu	37	2	29293566	29293566	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29293566G>T	ENST00000331664.5	-	1	3561	c.3562C>A	c.(3562-3564)Cct>Act	p.P1188T		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1188					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTGAGGAAAGGCAGAGGGTTG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	50	48			NA	NA	2		NA											NA				29293566		2109	4217	6326	SO:0001583	missense				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270	388939	388939			34383	protein-coding gene	gene with protein product		613425			NA	20398886	Standard	NM_001029883	NM_001029883	NA	Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.3562C>A	2.37:g.29293566G>T	ENSP00000332809:p.Pro1188Thr	NA		37	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631712	0.87660	.	.	ENSG00000179270	ENST00000331664	T	0.36340	1.26	5.52	5.52	0.82312	.	0.071002	0.56097	D	0.000028	T	0.61502	0.2352	M	0.65498	2.005	0.46609	D	0.999124	D	0.89917	1.0	D	0.91635	0.999	T	0.63598	-0.6601	10	0.87932	D	0	-12.6592	19.4741	0.94979	0.0:0.0:1.0:0.0	.	1188	A6NGG8	CB071_HUMAN	T	1188	ENSP00000332809:P1188T	ENSP00000332809:P1188T	P	-	1	0	C2orf71	29147070	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	7.587000	0.82613	2.595000	0.87683	0.655000	0.94253	CCT	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324924.3		-	ENST00000331664.5	Missense_Mutation	SNP	2 : 29293566 - 29293566 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	392	61
AHCY	191	broad.mit.edu	37	20	32883326	32883326	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32883326G>T	ENST00000538132.1	-	2	396	c.10C>A	c.(10-12)Ctg>Atg	p.L4M	AHCY_ENST00000217426.2_Missense_Mutation_p.L32M|AHCY_ENST00000468908.1_5'UTR	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	32					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ATACGCATCAGGCCCGGCATC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	33	34			NA	NA	20		NA											NA				32883326		2203	4300	6503	SO:0001583	missense			M61832	CCDS13233.1, CCDS54457.1	20q11.22	2009-06-12	2009-06-12		ENSG00000101444	ENSG00000101444	191	191	3.3.1.1		343	protein-coding gene	gene with protein product		180960	S-adenosylhomocysteine hydrolase		NA	7079734, 6580258	Standard	NM_000687	NM_001161766	NA	Approved	SAHH	uc002xai.3	P23526	OTTHUMG00000140098	ENST00000538132.1:c.10C>A	20.37:g.32883326G>T	ENSP00000442820:p.Leu4Met	NA	A8K307|E1P5P2|Q96A36	37	CCDS54457.1	.	.	.	.	.	.	.	.	.	.	g	16.51	3.142990	0.57044	.	.	ENSG00000101444	ENST00000217426;ENST00000538132	D;D	0.83673	-1.75;-1.75	4.96	0.755	0.18415	.	0.000000	0.85682	D	0.000000	D	0.90393	0.6993	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88632	0.3170	10	0.87932	D	0	.	9.1209	0.36786	0.3722:0.0:0.6278:0.0	.	4;32	B3KUN3;P23526	.;SAHH_HUMAN	M	32;4	ENSP00000217426:L32M;ENSP00000442820:L4M	ENSP00000217426:L32M	L	-	1	2	AHCY	32346987	1.000000	0.71417	0.991000	0.47740	0.440000	0.31957	3.479000	0.53165	-0.018000	0.14079	-0.355000	0.07637	CTG	AHCY-006	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000470304.1		-	ENST00000538132.1	Missense_Mutation	SNP	20 : 32883326 - 32883326 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	224	41
TANC2	26115	broad.mit.edu	37	17	61473130	61473130	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61473130G>T	ENST00000424789.2	+	16	2860	c.2856G>T	c.(2854-2856)caG>caT	p.Q952H	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.Q952H|AC015923.1_ENST00000431604.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	952							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						AGAACGGGCAGTGTGCTTTGG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	108	107			NA	NA	17		NA											NA				61473130		2119	4242	6361	SO:0001583	missense			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921	26115	26115		Ankyrin repeat domain containing, Tetratricopeptide (TTC) repeat domain containing	30212	protein-coding gene	gene with protein product	rolling pebbles homolog B (Drosophila)	615047			NA		Standard		NM_025185	NA	Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.2856G>T	17.37:g.61473130G>T	ENSP00000387593:p.Gln952His	NA	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	37	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502657	0.64298	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.15603	2.41;2.41	5.78	4.81	0.61882	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.30103	0.0754	L	0.31526	0.94	0.52099	D	0.999949	D;D	0.89917	0.998;1.0	D;D	0.83275	0.964;0.996	T	0.03008	-1.1083	10	0.44086	T	0.13	.	15.0437	0.71811	0.0683:0.0:0.9317:0.0	.	952;952	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	H	952	ENSP00000374171:Q952H;ENSP00000387593:Q952H	ENSP00000374171:Q952H	Q	+	3	2	TANC2	58826862	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	4.902000	0.63266	1.447000	0.47661	-0.137000	0.14449	CAG	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444765.1		+	ENST00000424789.2	Missense_Mutation	SNP	17 : 61473130 - 61473130 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	131	13
CCKBR	887	broad.mit.edu	37	11	6291375	6291375	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6291375G>T	ENST00000525462.1	+	3	464	c.461G>T	c.(460-462)aGc>aTc	p.S154I	CCKBR_ENST00000532715.1_Missense_Mutation_p.S70I|CCKBR_ENST00000525014.1_3'UTR|CCKBR_ENST00000334619.2_Missense_Mutation_p.S154I			P32239	GASR_HUMAN	cholecystokinin B receptor	139					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GAGCGGTACAGCGCCATCTGC	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	11		NA											NA				6291375		2201	4296	6497	SO:0001583	missense			D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148	887	887		GPCR / Class A : Cholecystokinin receptors	1571	protein-coding gene	gene with protein product		118445			NA	1280419	Standard	NM_176875	NM_176875	NA	Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000525462.1:c.461G>T	11.37:g.6291375G>T	ENSP00000435534:p.Ser154Ile	NA	A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	37		.	.	.	.	.	.	.	.	.	.	G	24.1	4.489164	0.84962	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525462	T;T;T	0.33654	2.27;1.4;2.27	4.81	4.81	0.61882	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.43478	0.1249	N	0.20328	0.56	0.58432	D	0.999995	P;D;D	0.61697	0.944;0.99;0.983	P;D;D	0.67900	0.792;0.923;0.954	T	0.28396	-1.0045	10	0.32370	T	0.25	.	16.5922	0.84769	0.0:0.0:1.0:0.0	.	154;88;154	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	I	154;70;154	ENSP00000335544:S154I;ENSP00000432079:S70I;ENSP00000435534:S154I	ENSP00000335544:S154I	S	+	2	0	CCKBR	6247951	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.455000	0.80726	2.505000	0.84491	0.655000	0.94253	AGC	CCKBR-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000383770.1		+	ENST00000525462.1	Missense_Mutation	SNP	11 : 6291375 - 6291375 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	352	66
ZNF335	63925	broad.mit.edu	37	20	44582471	44582471	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44582471G>A	ENST00000322927.2	-	18	2659	c.2559C>T	c.(2557-2559)ggC>ggT	p.G853G	ZNF335_ENST00000426788.1_Silent_p.G698G	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	853					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CTGCTGCACCGCCCCCTGGCT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	49	51			NA	NA	20		NA											NA				44582471		2203	4300	6503	SO:0001819	synonymous_variant			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026	63925	63925		Zinc fingers, C2H2-type	15807	protein-coding gene	gene with protein product	NRC-interacting factor 1	610827			NA	12215545, 19131338	Standard	NM_022095	NM_022095	NA	Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.2559C>T	20.37:g.44582471G>A		NA	B4DLG7|Q548D0|Q9H684	37	CCDS13389.1																																																																																			ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079553.1		-	ENST00000322927.2	Silent	SNP	20 : 44582471 - 44582471 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	208	38
CEP41	95681	broad.mit.edu	37	7	130067795	130067795	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130067795C>T	ENST00000223208.5	-	2	368		c.e2+1		CEP41_ENST00000541543.1_Splice_Site|CEP41_ENST00000489512.1_Splice_Site|CEP41_ENST00000495702.1_Splice_Site|CEP41_ENST00000343969.5_Splice_Site	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	NA					G2/M transition of mitotic cell cycle	centrosome|cytosol					NA						TCTTTACTCACCAGTGTCCAG	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	75	75			NA	NA	7		NA											NA				130067795		2203	4300	6503	SO:0001630	splice_region_variant			AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477	95681	95681			12370	protein-coding gene	gene with protein product		610523	testis specific, 14	TSGA14	NA	14654843, 22246503	Standard	NM_018718	NM_018718	NA	Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.97+1G>A	7.37:g.130067795C>T		NA	Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	37	CCDS5821.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726472	0.69074	.	.	ENSG00000106477	ENST00000223208;ENST00000541543;ENST00000343969;ENST00000477003;ENST00000469826;ENST00000489512	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0257	0.71669	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TSGA14	129855031	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.001000	0.57046	2.616000	0.88540	0.591000	0.81541	.	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349702.2	Intron	-	ENST00000223208.5	Splice_Site	SNP	7 : 130067795 - 130067795 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	200	18
OR7D2	162998	broad.mit.edu	37	19	9296785	9296785	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9296785C>A	ENST00000344248.2	+	1	507	c.328C>A	c.(328-330)Ctg>Atg	p.L110M		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	110					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L110V(1)		breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TTTTCCTATTCTGGACACGCT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	ovary(1)											182	167	172			NA	NA	19		NA											NA				9296785		2203	4300	6503	SO:0001583	missense			AK095468	CCDS32900.1	19p13.2	2012-08-09					162998	162998		GPCR / Class A : Olfactory receptors	8378	protein-coding gene	gene with protein product					NA		Standard		NM_175883	NA	Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.328C>A	19.37:g.9296785C>A	ENSP00000345563:p.Leu110Met	NA	Q6IFJ7|Q8N133	37	CCDS32900.1	.	.	.	.	.	.	.	.	.	.	C	0.024	-1.390430	0.01185	.	.	ENSG00000188000	ENST00000344248	T	0.00892	5.57	2.21	-1.95	0.07548	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31268	U	0.007960	T	0.00580	0.0019	N	0.17872	0.535	0.09310	N	1	B	0.23937	0.094	B	0.23852	0.049	T	0.47560	-0.9108	10	0.31617	T	0.26	.	1.8614	0.03189	0.4995:0.2153:0.1648:0.1204	.	110	Q96RA2	OR7D2_HUMAN	M	110	ENSP00000345563:L110M	ENSP00000345563:L110M	L	+	1	2	OR7D2	9157785	0.000000	0.05858	0.004000	0.12327	0.007000	0.05969	-0.338000	0.07842	-0.321000	0.08627	0.511000	0.50034	CTG	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449002.1		+	ENST00000344248.2	Missense_Mutation	SNP	19 : 9296785 - 9296785 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	882	153
RARG	5916	broad.mit.edu	37	12	53607995	53607995	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53607995G>A	ENST00000425354.2	-	7	1148	c.661C>T	c.(661-663)Cag>Tag	p.Q221*	RARG_ENST00000338561.5_Nonsense_Mutation_p.Q210*|RARG_ENST00000327550.3_Nonsense_Mutation_p.Q149*|RARG_ENST00000543726.1_Nonsense_Mutation_p.Q199*|RARG_ENST00000394426.1_Nonsense_Mutation_p.Q221*|RARG_ENST00000543762.1_5'UTR	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	221	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	AGATCCAGCTGCACGCGGTGG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	74	78			NA	NA	12		NA											NA				53607995		2203	4300	6503	SO:0001587	stop_gained			M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819	5916	5916		Nuclear hormone receptors	9866	protein-coding gene	gene with protein product		180190			NA	1849262	Standard	NM_000966	NM_001042728	NA	Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.661C>T	12.37:g.53607995G>A	ENSP00000388510:p.Gln221*	NA	B7ZAE4|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	37	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	G	40	8.151613	0.98678	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	.	.	.	5.37	4.48	0.54585	.	0.106321	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.074	0.59077	0.0793:0.0:0.9207:0.0	.	.	.	.	X	221;221;149;210;199;258	.	ENSP00000332695:Q149X	Q	-	1	0	RARG	51894262	1.000000	0.71417	0.996000	0.52242	0.909000	0.53808	4.104000	0.57790	1.403000	0.46800	0.563000	0.77884	CAG	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109404.2		-	ENST00000425354.2	Nonsense_Mutation	SNP	12 : 53607995 - 53607995 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	584	100
SATB1	6304	broad.mit.edu	37	3	18419793	18419793	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:18419793C>A	ENST00000417717.2	-	9	2414	c.1444G>T	c.(1444-1446)Gaa>Taa	p.E482*	SATB1_ENST00000338745.6_Nonsense_Mutation_p.E482*|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Nonsense_Mutation_p.E482*	NM_001195470.1	NP_001182399.1	Q01826	SATB1_HUMAN	SATB homeobox 1	482					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CCATTCCTTTCAGTGGCAATA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													216	213	214			NA	NA	3		NA											NA				18419793		2203	4300	6503	SO:0001587	stop_gained				CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568	6304	6304		Homeoboxes / CUT class	10541	protein-coding gene	gene with protein product		602075	special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)		NA	1505028	Standard	NM_001131010	NM_002971	NA	Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000417717.2:c.1444G>T	3.37:g.18419793C>A	ENSP00000399518:p.Glu482*	NA	B3KXF1|C9JTR6|Q59EQ0	37	CCDS56242.1	.	.	.	.	.	.	.	.	.	.	C	42	9.317731	0.99135	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-18.9854	19.6513	0.95812	0.0:1.0:0.0:0.0	.	.	.	.	X	482	.	ENSP00000341024:E482X	E	-	1	0	SATB1	18394797	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.249000	0.78278	2.704000	0.92352	0.650000	0.86243	GAA	SATB1-004	KNOWN	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339360.2		-	ENST00000417717.2	Nonsense_Mutation	SNP	3 : 18419793 - 18419793 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1099	196
ADH4	127	broad.mit.edu	37	4	100057801	100057801	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100057801G>A	ENST00000508393.1	-	6	620	c.455C>T	c.(454-456)aCc>aTc	p.T152I	RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000423445.1_Missense_Mutation_p.T152I|ADH4_ENST00000265512.7_Missense_Mutation_p.T133I|ADH4_ENST00000505590.1_Missense_Mutation_p.T152I			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	133					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	AAACCTGCTGGTTTTGTCTTC	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	100	101			NA	NA	4		NA											NA				100057801		2203	4300	6503	SO:0001583	missense			M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	127	127	1.1.1.1	Alcohol dehydrogenases	252	protein-coding gene	gene with protein product		103740			NA		Standard	NM_000670	NM_000670	NA	Approved	ADH-2	uc003hun.3	P08319		ENST00000508393.1:c.455C>T	4.37:g.100057801G>A	ENSP00000424630:p.Thr152Ile	NA	A8K470|B4DIE7|C9J4A9|Q8TCD7	37		.	.	.	.	.	.	.	.	.	.	G	18.08	3.544064	0.65198	.	.	ENSG00000198099	ENST00000508393;ENST00000265512;ENST00000423445;ENST00000505590;ENST00000512499	T;T;T;T;T	0.03860	3.78;3.78;3.78;3.78;3.78	4.55	3.7	0.42460	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.388495	0.22795	N	0.055556	T	0.31734	0.0806	H	0.95365	3.66	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.51601	-0.8685	10	0.87932	D	0	-8.474	14.6936	0.69103	0.0:0.1458:0.8542:0.0	.	152;133	P08319-2;P08319	.;ADH4_HUMAN	I	152;133;152;152;152	ENSP00000424630:T152I;ENSP00000265512:T133I;ENSP00000397939:T152I;ENSP00000425416:T152I;ENSP00000423571:T152I	ENSP00000265512:T133I	T	-	2	0	ADH4	100276824	0.999000	0.42202	0.989000	0.46669	0.900000	0.52787	2.643000	0.46604	1.135000	0.42183	0.650000	0.86243	ACC	ADH4-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000364221.1		-	ENST00000508393.1	Missense_Mutation	SNP	4 : 100057801 - 100057801 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	348	69
ARHGAP35	2909	broad.mit.edu	37	19	47424913	47424913	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47424913G>A	ENST00000404338.3	+	1	2981	c.2981G>A	c.(2980-2982)aGc>aAc	p.S994N		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	994					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity				NA						CCATCTTACAGCCTGTTTCGA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	61	61			NA	NA	19		NA											NA				47424913		1940	4151	6091	SO:0001583	missense			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007	2909	2909		Rho GTPase activating proteins	4591	protein-coding gene	gene with protein product		605277	glucocorticoid receptor DNA binding factor 1	GRLF1	NA	1894621, 20675588	Standard	NM_004491	NM_004491	NA	Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2981G>A	19.37:g.47424913G>A	ENSP00000385720:p.Ser994Asn	NA	A7E2A4|Q14452|Q9C0E1	37	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559972	0.27827	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.08720	3.06	5.76	1.08	0.20341	.	0.813714	0.12204	N	0.489984	T	0.08537	0.0212	L	0.42245	1.32	0.09310	N	0.999994	P	0.36392	0.551	B	0.39531	0.302	T	0.29119	-1.0022	10	0.46703	T	0.11	-4.8785	6.1961	0.20550	0.0699:0.3604:0.4428:0.1268	.	994	Q9NRY4-2	.	N	994	ENSP00000385720:S994N	ENSP00000324820:S994N	S	+	2	0	ARHGAP35	52116753	0.172000	0.23043	0.450000	0.26969	0.803000	0.45373	0.815000	0.27253	0.059000	0.16252	0.655000	0.94253	AGC	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466652.1		+	ENST00000404338.3	Missense_Mutation	SNP	19 : 47424913 - 47424913 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	295	26
RFFL	117584	broad.mit.edu	37	17	33348430	33348430	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33348430G>A	ENST00000315249.7	-	3	773	c.551C>T	c.(550-552)gCc>gTc	p.A184V	RFFL_ENST00000268850.7_Missense_Mutation_p.A184V|RFFL_ENST00000413582.2_Missense_Mutation_p.A184V|RFFL_ENST00000415395.2_Missense_Mutation_p.A184V|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000378516.2_Missense_Mutation_p.A184V|RFFL_ENST00000394597.2_Missense_Mutation_p.A184V|RFFL_ENST00000447669.2_Missense_Mutation_p.A184V|RFFL_ENST00000584655.1_Missense_Mutation_p.A184V			Q8WZ73	RFFL_HUMAN	ring finger and FYVE-like domain containing E3 ubiquitin protein ligase	184					apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AACAGAGGTGGCTTGTGCAGA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	63	65			NA	NA	17		NA											NA				33348430		2203	4300	6503	SO:0001583	missense			AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871	117584	117584		RING-type (C3HC4) zinc fingers	24821	protein-coding gene	gene with protein product		609735	ring finger and FYVE-like domain containing		NA	15229288	Standard	NM_057178	NR_037713	NA	Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.551C>T	17.37:g.33348430G>A	ENSP00000326170:p.Ala184Val	NA	E1P633|Q8NHW0|Q8TBY7|Q96BE6	37	CCDS11286.1	.	.	.	.	.	.	.	.	.	.	G	9.221	1.033387	0.19590	.	.	ENSG00000092871	ENST00000315249;ENST00000394597;ENST00000378516;ENST00000268850;ENST00000413582;ENST00000415395	T;T;T;T;T;T	0.46063	0.88;0.88;0.89;0.94;0.89;0.88	5.29	4.32	0.51571	.	0.493756	0.19078	N	0.123321	T	0.22322	0.0538	N	0.05230	-0.09	0.24595	N	0.993809	B;B;B;B	0.12630	0.006;0.001;0.0;0.001	B;B;B;B	0.12156	0.007;0.002;0.002;0.004	T	0.13255	-1.0516	10	0.23302	T	0.38	-7.8595	12.2476	0.54578	0.0825:0.0:0.9175:0.0	.	184;184;184;184	C9JN73;Q8WZ73-3;Q8WZ73;Q8WZ73-2	.;.;RFFL_HUMAN;.	V	184	ENSP00000326170:A184V;ENSP00000378096:A184V;ENSP00000367777:A184V;ENSP00000268850:A184V;ENSP00000408513:A184V;ENSP00000412322:A184V	ENSP00000268850:A184V	A	-	2	0	RFFL	30372543	0.986000	0.35501	0.726000	0.30738	0.232000	0.25224	3.985000	0.56930	1.440000	0.47531	0.655000	0.94253	GCC	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256460.2		-	ENST00000315249.7	Missense_Mutation	SNP	17 : 33348430 - 33348430 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	224	39
BBS7	55212	broad.mit.edu	37	4	122782737	122782737	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122782737G>T	ENST00000264499.4	-	4	446	c.263C>A	c.(262-264)tCt>tAt	p.S88Y	BBS7_ENST00000506636.1_Missense_Mutation_p.S88Y	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	88					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCTAATCTCAGATGCTGCAGC	0.428		NA							Bardet-Biedl syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	92	92			NA	NA	4		NA											NA				122782737		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686	NA	55212			18758	protein-coding gene	gene with protein product		607590			NA		Standard		NM_176824	NA	Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.263C>A	4.37:g.122782737G>T	ENSP00000264499:p.Ser88Tyr	NA	Q4W5P8|Q8N581|Q9NVI4	37	CCDS3724.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741916	0.89573	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	D;D	0.92099	-2.97;-2.97	5.47	5.47	0.80525	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.95551	0.8554	M	0.77103	2.36	0.80722	D	1	D;D	0.62365	0.991;0.98	P;P	0.59643	0.861;0.861	D	0.95737	0.8780	10	0.72032	D	0.01	-14.2789	19.328	0.94270	0.0:0.0:1.0:0.0	.	88;88	Q8IWZ6-2;Q8IWZ6	.;BBS7_HUMAN	Y	88	ENSP00000264499:S88Y;ENSP00000423626:S88Y	ENSP00000264499:S88Y	S	-	2	0	BBS7	123002187	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.443000	0.97568	2.559000	0.86315	0.591000	0.81541	TCT	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256716.1		-	ENST00000264499.4	Missense_Mutation	SNP	4 : 122782737 - 122782737 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	310	21
TULP4	56995	broad.mit.edu	37	6	158870179	158870179	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158870179C>T	ENST00000367097.3	+	4	2052	c.695C>T	c.(694-696)aCg>aTg	p.T232M	TULP4_ENST00000367094.2_Missense_Mutation_p.T232M	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	232					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GAGAGCGACACGGACTCAGAT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	137	147			NA	NA	6		NA											NA				158870179		2203	4300	6503	SO:0001583	missense				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338	56995	56995		WD repeat domain containing	15530	protein-coding gene	gene with protein product					NA	11595174	Standard	NM_020245	NM_020245	NA	Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.695C>T	6.37:g.158870179C>T	ENSP00000356064:p.Thr232Met	NA	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	37	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520788	0.64747	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.03607	3.87;3.87	5.29	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.108926	0.64402	D	0.000008	T	0.01940	0.0061	L	0.51422	1.61	0.36864	D	0.888589	P;B;P	0.40534	0.487;0.145;0.72	B;B;B	0.25759	0.015;0.035;0.063	T	0.58228	-0.7673	10	0.31617	T	0.26	-24.0194	18.9309	0.92564	0.0:1.0:0.0:0.0	.	232;232;232	B4E202;Q9NRJ4-2;Q9NRJ4	.;.;TULP4_HUMAN	M	232	ENSP00000356064:T232M;ENSP00000356061:T232M	ENSP00000356061:T232M	T	+	2	0	TULP4	158790167	1.000000	0.71417	0.413000	0.26509	0.981000	0.71138	5.921000	0.70028	2.484000	0.83849	0.563000	0.77884	ACG	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042869.1		+	ENST00000367097.3	Missense_Mutation	SNP	6 : 158870179 - 158870179 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	533	69
SPEF2	79925	broad.mit.edu	37	5	35740347	35740347	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35740347C>T	ENST00000440995.2	+	23	3293	c.3293C>T	c.(3292-3294)gCt>gTt	p.A1098V	SPEF2_ENST00000356031.3_Missense_Mutation_p.A1103V|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1103					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)			GAAACAAAGGCTGAACTACAT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	134	139			NA	NA	5		NA											NA				35740347		1961	4157	6118	SO:0001583	missense			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.3293C>T	5.37:g.35740347C>T	ENSP00000412125:p.Ala1098Val	NA	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	37		.	.	.	.	.	.	.	.	.	.	C	23.7	4.442304	0.83993	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.08193	3.12;3.12	5.83	4.94	0.65067	.	0.328508	0.31082	N	0.008292	T	0.19685	0.0473	M	0.68593	2.085	0.80722	D	1	D;P	0.63046	0.992;0.792	P;B	0.54270	0.747;0.326	T	0.00551	-1.1675	10	0.66056	D	0.02	.	12.3549	0.55169	0.1337:0.7376:0.1287:0.0	.	1098;1103	Q9C093-2;Q9C093	.;SPEF2_HUMAN	V	1103;1098	ENSP00000348314:A1103V;ENSP00000412125:A1098V	ENSP00000348314:A1103V	A	+	2	0	SPEF2	35776104	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	3.036000	0.49767	1.419000	0.47118	0.655000	0.94253	GCT	SPEF2-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000367203.1		+	ENST00000440995.2	Missense_Mutation	SNP	5 : 35740347 - 35740347 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	657	100
RYR1	6261	broad.mit.edu	37	19	39063833	39063833	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39063833T>G	ENST00000355481.4	+	95	14131	c.14000T>G	c.(13999-14001)tTt>tGt	p.F4667C	RYR1_ENST00000359596.3_Missense_Mutation_p.F4672C|RYR1_ENST00000360985.3_Missense_Mutation_p.F4667C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4672					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)	CTGGTAATCTTTAAGCGGGAG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	78	79			NA	NA	19		NA											NA				39063833		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.14000T>G	19.37:g.39063833T>G	ENSP00000347667:p.Phe4667Cys	NA	Q16314|Q16368|Q9NPK1|Q9P1U4	37	CCDS42563.1	.	.	.	.	.	.	.	.	.	.	T	12.97	2.098369	0.37048	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.99121	-5.45;-5.44;-5.44	4.39	4.39	0.52855	.	0.000000	0.64402	U	0.000001	D	0.99233	0.9733	M	0.84948	2.725	0.58432	D	0.999995	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.993	D	0.99174	1.0865	10	0.87932	D	0	.	13.4287	0.61042	0.0:0.0:0.0:1.0	.	4667;4672	P21817-2;P21817	.;RYR1_HUMAN	C	4672;4667;4667	ENSP00000352608:F4672C;ENSP00000347667:F4667C;ENSP00000354254:F4667C	ENSP00000347667:F4667C	F	+	2	0	RYR1	43755673	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.711000	0.84669	1.858000	0.53909	0.260000	0.18958	TTT	RYR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461017.2		+	ENST00000355481.4	Missense_Mutation	SNP	19 : 39063833 - 39063833 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	416	85
TAAR6	319100	broad.mit.edu	37	6	132892109	132892109	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132892109T>C	ENST00000275198.1	+	1	649	c.649T>C	c.(649-651)Tat>Cat	p.Y217H		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	217						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		GATAATTCTGTATGGTAACAT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	74	74			NA	NA	6		NA											NA				132892109		2203	4300	6503	SO:0001583	missense			AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383	319100	319100		GPCR / Class A : Trace amine associated receptors	20978	protein-coding gene	gene with protein product		608923	trace amine receptor 4	TRAR4	NA	11459929, 15718104	Standard	NM_175067	NM_175067	NA	Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.649T>C	6.37:g.132892109T>C	ENSP00000275198:p.Tyr217His	NA	Q5VUQ4	37	CCDS5155.1	.	.	.	.	.	.	.	.	.	.	T	14.82	2.650421	0.47362	.	.	ENSG00000146383	ENST00000275198;ENST00000539228	T	0.60424	0.19	5.11	5.11	0.69529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000147	T	0.78310	0.4263	H	0.94582	3.555	0.42362	D	0.992412	D	0.53151	0.958	D	0.65987	0.94	D	0.85036	0.0920	10	0.87932	D	0	-12.3275	15.0602	0.71947	0.0:0.0:0.0:1.0	.	217	Q96RI8	TAAR6_HUMAN	H	217;200	ENSP00000275198:Y217H	ENSP00000275198:Y217H	Y	+	1	0	TAAR6	132933802	1.000000	0.71417	0.015000	0.15790	0.228000	0.25075	4.912000	0.63335	2.132000	0.65825	0.528000	0.53228	TAT	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042255.1		+	ENST00000275198.1	Missense_Mutation	SNP	6 : 132892109 - 132892109 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	333	67
THOC6	79228	broad.mit.edu	37	16	3076711	3076711	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3076711A>G	ENST00000326266.8	+	8	811	c.515A>G	c.(514-516)cAc>cGc	p.H172R	THOC6_ENST00000574549.1_Missense_Mutation_p.H148R|THOC6_ENST00000253952.9_Missense_Mutation_p.H172R|THOC6_ENST00000575576.1_Missense_Mutation_p.H148R	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	172					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						GACTACATCCACTGCCTGGCA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	62	65			NA	NA	16		NA											NA				3076711		2198	4300	6498	SO:0001583	missense			BC050674	CCDS10491.1, CCDS45392.1	16p13.3	2013-02-11	2006-03-02	2006-03-02		ENSG00000131652	79228	79228		WD repeat domain containing, THO complex subunits	28369	protein-coding gene	gene with protein product	functional spliceosome-associated protein 35	615403	WD repeat domain 58	WDR58	NA	12477932	Standard	NM_024339	NM_024339	NA	Approved	MGC2655, fSAP35	uc002ctb.2	Q86W42		ENST00000326266.8:c.515A>G	16.37:g.3076711A>G	ENSP00000326531:p.His172Arg	NA	B2RA85|Q8NBR1|Q9BTV9	37	CCDS10491.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.152989	0.78001	.	.	ENSG00000131652	ENST00000326266;ENST00000253952	T;T	0.57107	0.42;0.42	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.54287	0.1849	N	0.17248	0.465	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72982	0.967;0.979	T	0.51348	-0.8717	10	0.20046	T	0.44	-12.7575	13.695	0.62572	1.0:0.0:0.0:0.0	.	172;172	Q86W42-3;Q86W42	.;THOC6_HUMAN	R	172	ENSP00000326531:H172R;ENSP00000253952:H172R	ENSP00000253952:H172R	H	+	2	0	THOC6	3016712	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.814000	0.86154	2.125000	0.65367	0.459000	0.35465	CAC	THOC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000436981.1		+	ENST00000326266.8	Missense_Mutation	SNP	16 : 3076711 - 3076711 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	159	35
PPP1R3B	79660	broad.mit.edu	37	8	8998463	8998463	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:8998463G>T	ENST00000310455.3	-	2	849	c.699C>A	c.(697-699)atC>atA	p.I233I	PPP1R3B_ENST00000519699.1_Silent_p.I233I	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	233	CBM21.				glycogen metabolic process					endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		ACTCAGCCCGGATGATCCTAT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													195	185	188			NA	NA	8		NA											NA				8998463		2203	4300	6503	SO:0001819	synonymous_variant			AK024067	CCDS5973.1	8p23.1	2012-04-17	2011-10-04		ENSG00000173281	ENSG00000173281	79660	79660		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	14942	protein-coding gene	gene with protein product	PP1 subunit R4, hepatic glycogen-targeting subunit, G(L)	610541	protein phosphatase 1, regulatory (inhibitor) subunit 3B		NA	11948623, 17555403	Standard	NM_024607	NM_024607	NA	Approved	GL, FLJ14005, PPP1R4	uc003wsn.4	Q86XI6	OTTHUMG00000129329	ENST00000310455.3:c.699C>A	8.37:g.8998463G>T		NA	B3KTV3|Q9H812	37	CCDS5973.1																																																																																			PPP1R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251472.1		-	ENST00000310455.3	Silent	SNP	8 : 8998463 - 8998463 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	473	83
UNC5CL	222643	broad.mit.edu	37	6	41002657	41002657	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41002657C>T	ENST00000373164.1	-	1	217	c.157G>A	c.(157-159)Gtg>Atg	p.V53M	UNC5CL_ENST00000244565.3_Missense_Mutation_p.V53M			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	53					signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGCTGGGACACTGGTTCCTCT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	105	109			NA	NA	6		NA											NA				41002657		2203	4300	6503	SO:0001583	missense			BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602	222643	222643			21203	protein-coding gene	gene with protein product	ZU5 and death domain containing				NA	14769797	Standard	NM_173561	NM_173561	NA	Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.157G>A	6.37:g.41002657C>T	ENSP00000362258:p.Val53Met	NA	Q5TGU1	37	CCDS4847.1	.	.	.	.	.	.	.	.	.	.	C	9.873	1.199508	0.22121	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.20598	2.06;2.06	4.49	4.49	0.54785	.	0.836023	0.10201	N	0.703402	T	0.07279	0.0184	N	0.24115	0.695	0.80722	D	1	P	0.38922	0.651	B	0.31751	0.135	T	0.12656	-1.0539	10	0.54805	T	0.06	-3.386	12.5412	0.56172	0.0:1.0:0.0:0.0	.	53	Q8IV45	UN5CL_HUMAN	M	53	ENSP00000244565:V53M;ENSP00000362258:V53M	ENSP00000244565:V53M	V	-	1	0	UNC5CL	41110635	0.009000	0.17119	0.849000	0.33467	0.012000	0.07955	2.263000	0.43293	2.342000	0.79632	0.563000	0.77884	GTG	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040491.1		-	ENST00000373164.1	Missense_Mutation	SNP	6 : 41002657 - 41002657 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	587	105
AASS	10157	broad.mit.edu	37	7	121738597	121738597	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121738597C>A	ENST00000393376.1	-	14	1657	c.1562G>T	c.(1561-1563)gGc>gTc	p.G521V	AASS_ENST00000417368.2_Missense_Mutation_p.G521V|AASS_ENST00000473553.1_5'UTR			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	521	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	ATATTTCTTGCCTAACTGTTC	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	98	100			NA	NA	7		NA											NA				121738597		2203	4300	6503	SO:0001583	missense			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311	10157	10157			17366	protein-coding gene	gene with protein product		605113			NA	10775527	Standard	NM_005763	NM_005763	NA	Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.1562G>T	7.37:g.121738597C>A	ENSP00000377040:p.Gly521Val	NA	O95462	37	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804224	0.31869	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	T;T	0.38401	1.14;1.14	5.97	4.13	0.48395	NAD(P)-binding domain (1);	0.791425	0.12271	N	0.483813	T	0.12561	0.0305	N	0.01091	-1.02	0.09310	N	0.999996	B	0.02656	0.0	B	0.12156	0.007	T	0.07558	-1.0766	10	0.59425	D	0.04	0.2893	4.3102	0.10967	0.1252:0.5612:0.2255:0.0881	.	521	Q9UDR5	AASS_HUMAN	V	521	ENSP00000377040:G521V;ENSP00000403768:G521V	ENSP00000351834:G521V	G	-	2	0	AASS	121525833	0.080000	0.21391	0.129000	0.21949	0.926000	0.56050	2.831000	0.48144	1.533000	0.49186	0.585000	0.79938	GGC	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347300.1		-	ENST00000393376.1	Missense_Mutation	SNP	7 : 121738597 - 121738597 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	178	36
SLC9A2	6549	broad.mit.edu	37	2	103300642	103300642	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103300642G>A	ENST00000233969.2	+	5	1414	c.1272G>A	c.(1270-1272)ctG>ctA	p.L424L		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	424						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CCATTCCCCTGACCTTTAAGG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													190	168	175			NA	NA	2		NA											NA				103300642		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616	6549	6549		Solute carriers	11072	protein-coding gene	gene with protein product		600530	solute carrier family 9 (sodium/hydrogen exchanger), isoform 2, solute carrier family 9 (sodium/hydrogen exchanger), member 2	NHE2	NA		Standard		NM_003048	NA	Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.1272G>A	2.37:g.103300642G>A		NA	B2RMS2	37	CCDS2062.1																																																																																			SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253292.2		+	ENST00000233969.2	Silent	SNP	2 : 103300642 - 103300642 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	613	56
IRX1	79192	broad.mit.edu	37	5	3599539	3599539	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:3599539G>T	ENST00000302006.3	+	2	529	c.477G>T	c.(475-477)gaG>gaT	p.E159D	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	159						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCAAGGGCGAGAAGATCATGC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	126	138			NA	NA	5		NA											NA				3599539		2203	4298	6501	SO:0001583	missense			U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549	79192	79192		Homeoboxes / TALE class	14358	protein-coding gene	gene with protein product		606197			NA		Standard	NM_024337	NM_024337	NA	Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.477G>T	5.37:g.3599539G>T	ENSP00000305244:p.Glu159Asp	NA	Q7Z2F8|Q8N312	37	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015539	0.93404	.	.	ENSG00000170549	ENST00000302006	D	0.85702	-2.02	4.81	4.81	0.61882	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.89234	0.6657	L	0.41356	1.27	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89451	0.3730	10	0.46703	T	0.11	.	17.5082	0.87753	0.0:0.0:1.0:0.0	.	159	P78414	IRX1_HUMAN	D	159	ENSP00000305244:E159D	ENSP00000305244:E159D	E	+	3	2	IRX1	3652539	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.478000	0.73596	2.173000	0.68751	0.655000	0.94253	GAG	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365546.1		+	ENST00000302006.3	Missense_Mutation	SNP	5 : 3599539 - 3599539 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	662	94
ZNF549	256051	broad.mit.edu	37	19	58048598	58048598	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58048598G>T	ENST00000376233.3	+	4	407	c.226G>T	c.(226-228)Gag>Tag	p.E76*	ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Nonsense_Mutation_p.E63*	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGAGGCTGAGGAGGCCCCTTC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	99	100			NA	NA	19		NA											NA				58048598		2203	4300	6503	SO:0001587	stop_gained			AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406	256051	256051		Zinc fingers, C2H2-type, -	26632	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_153263	NM_153263	NA	Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.226G>T	19.37:g.58048598G>T	ENSP00000365407:p.Glu76*	NA	B3KV91|O43336|Q8NAR4	37	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604444	0.66445	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	.	.	.	2.28	0.8	0.18672	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	4.1166	0.10084	0.2989:0.0:0.7011:0.0	.	.	.	.	X	63;76	.	ENSP00000240719:E63X	E	+	1	0	ZNF549	62740410	0.000000	0.05858	0.000000	0.03702	0.171000	0.22731	0.050000	0.14120	0.260000	0.21731	0.655000	0.94253	GAG	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466780.1		+	ENST00000376233.3	Nonsense_Mutation	SNP	19 : 58048598 - 58048598 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	542	102
PI4KA	5297	broad.mit.edu	37	22	21105625	21105625	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21105625C>T	ENST00000255882.6	-	27	3195	c.3109G>A	c.(3109-3111)Gcc>Acc	p.A1037T	PI4KA_ENST00000572273.1_Missense_Mutation_p.A979T	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	979					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CGGTAGGGGGCGTCGGGGATG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(136;1332 1831 3115 23601 50806)							NA				0													131	97	108			NA	NA	22		NA											NA				21105625		2203	4300	6503	SO:0001583	missense			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973	5297	5297			8983	protein-coding gene	gene with protein product		600286		PIK4CA	NA	7961848, 8662589	Standard	NM_058004	NM_002650	NA	Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000255882.6:c.3109G>A	22.37:g.21105625C>T	ENSP00000255882:p.Ala1037Thr	NA	Q7Z625|Q9UPG2	37	CCDS33603.2	.	.	.	.	.	.	.	.	.	.	C	9.450	1.090231	0.20390	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.43	4.36	0.52297	.	0.213702	0.49916	D	0.000136	T	0.11196	0.0273	N	0.00088	-2.19	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45687	-0.9244	9	0.02654	T	1	-15.003	14.7651	0.69632	0.0:0.9208:0.0:0.0792	.	979	P42356	PI4KA_HUMAN	T	979	.	ENSP00000255882:A979T	A	-	1	0	PI4KA	19435625	0.998000	0.40836	0.644000	0.29465	0.917000	0.54804	3.456000	0.53000	2.825000	0.97269	0.655000	0.94253	GCC	PI4KA-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075723.5		-	ENST00000255882.6	Missense_Mutation	SNP	22 : 21105625 - 21105625 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	274	40
CRYBA4	1413	broad.mit.edu	37	22	27021478	27021478	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:27021478G>A	ENST00000354760.3	+	4	227	c.192G>A	c.(190-192)ggG>ggA	p.G64G	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	64	Beta/gamma crystallin 'Greek key' 2.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GCTTCCAAGGGCAGCAGTACA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	111	114			NA	NA	22		NA											NA				27021478		2203	4300	6503	SO:0001819	synonymous_variant				CCDS13841.1	22q12.1	2008-06-10			ENSG00000196431	ENSG00000196431	1413	1413			2396	protein-coding gene	gene with protein product		123631			NA	8999933, 960806	Standard	NM_001886	NM_001886	NA	Approved		uc003acz.4	P53673	OTTHUMG00000150983	ENST00000354760.3:c.192G>A	22.37:g.27021478G>A		NA	Q4VB22|Q6ICE4	37	CCDS13841.1																																																																																			CRYBA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320793.1		+	ENST00000354760.3	Silent	SNP	22 : 27021478 - 27021478 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1124	199
ABCE1	6059	broad.mit.edu	37	4	146032209	146032209	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146032209G>A	ENST00000296577.4	+	8	1218	c.703G>A	c.(703-705)Gct>Act	p.A235T	ABCE1_ENST00000502803.1_Intron|OTUD4_ENST00000455611.2_5'UTR	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	235	ABC transporter 1.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					CATACAGAAAGCTGATATGTA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	120	125			NA	NA	4		NA											NA				146032209		2203	4300	6503	SO:0001583	missense			X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163	6059	6059		ATP binding cassette transporters / subfamily E	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I	NA	7539425	Standard	NM_002940	NM_002940	NA	Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.703G>A	4.37:g.146032209G>A	ENSP00000296577:p.Ala235Thr	NA	O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	37	CCDS34071.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826680	0.90955	.	.	ENSG00000164163	ENST00000296577	D	0.85339	-1.97	5.45	5.45	0.79879	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.86468	0.5940	L	0.57130	1.785	0.80722	D	1	B	0.31790	0.34	B	0.38683	0.279	D	0.85299	0.1072	10	0.54805	T	0.06	-38.6729	19.6512	0.95812	0.0:0.0:1.0:0.0	.	235	P61221	ABCE1_HUMAN	T	235	ENSP00000296577:A235T	ENSP00000296577:A235T	A	+	1	0	ABCE1	146251659	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.859000	0.99545	2.712000	0.92718	0.591000	0.81541	GCT	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365104.1		+	ENST00000296577.4	Missense_Mutation	SNP	4 : 146032209 - 146032209 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	52
DLAT	1737	broad.mit.edu	37	11	111910001	111910001	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111910001G>A	ENST00000393051.1	+	5	727	c.694G>A	c.(694-696)Gct>Act	p.A232T	DLAT_ENST00000537636.1_Missense_Mutation_p.A108T|DLAT_ENST00000280346.6_Missense_Mutation_p.A337T			P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	337	Lipoyl-binding 2.				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	CCAGCCTTTAGCTCCTACACC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	144	141			NA	NA	11		NA											NA				111910001		2201	4297	6498	SO:0001583	missense			Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	1737	1737	2.3.1.12		2896	protein-coding gene	gene with protein product	E2 component of pyruvate dehydrogenase complex	608770		DLTA	NA	8102256	Standard	NM_001931	NM_001931	NA	Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000393051.1:c.694G>A	11.37:g.111910001G>A	ENSP00000376771:p.Ala232Thr	NA	Q16783|Q53EP3	37		.	.	.	.	.	.	.	.	.	.	G	11.38	1.622404	0.28889	.	.	ENSG00000150768	ENST00000280346;ENST00000393051;ENST00000531306;ENST00000537636	T;T;T;T	0.26810	2.07;2.24;2.11;1.71	6.17	-2.07	0.07276	.	0.647368	0.16044	N	0.232293	T	0.11879	0.0289	N	0.24115	0.695	0.09310	N	0.999997	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.09377	0.002;0.004;0.002	T	0.15235	-1.0444	10	0.35671	T	0.21	0.4748	2.7461	0.05268	0.2279:0.2008:0.468:0.1033	.	337;232;337	Q86YI5;E9PEJ4;P10515	.;.;ODP2_HUMAN	T	337;232;169;108	ENSP00000280346:A337T;ENSP00000376771:A232T;ENSP00000433432:A169T;ENSP00000442427:A108T	ENSP00000280346:A337T	A	+	1	0	DLAT	111415211	0.001000	0.12720	0.001000	0.08648	0.459000	0.32528	0.380000	0.20602	-0.023000	0.13963	-0.150000	0.13652	GCT	DLAT-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000258168.1		+	ENST00000393051.1	Missense_Mutation	SNP	11 : 111910001 - 111910001 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1119	33
KIAA1467	57613	broad.mit.edu	37	12	13232935	13232935	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13232935C>T	ENST00000197268.8	+	12	1975	c.1855C>T	c.(1855-1857)Ccc>Tcc	p.P619S		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	619						integral to membrane		p.P619S(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TGTTGAAGCTCCCTACGAGGT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	skin(1)											30	34	33			NA	NA	12		NA											NA				13232935		2203	4300	6503	SO:0001583	missense			AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444	57613	57613			29288	protein-coding gene	gene with protein product					NA	10819331	Standard	NM_020853	XM_005253450	NA	Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.1855C>T	12.37:g.13232935C>T	ENSP00000197268:p.Pro619Ser	NA	Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	37	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845378	0.32606	.	.	ENSG00000084444	ENST00000197268	.	.	.	5.43	3.45	0.39498	.	0.515087	0.20509	N	0.090937	T	0.35998	0.0951	L	0.29908	0.895	0.36344	D	0.859672	B	0.33940	0.433	B	0.33890	0.172	T	0.45600	-0.9250	9	0.52906	T	0.07	-14.8978	5.5861	0.17275	0.1414:0.644:0.1372:0.0775	.	619	A2RU67	K1467_HUMAN	S	619	.	ENSP00000197268:P619S	P	+	1	0	KIAA1467	13124202	1.000000	0.71417	0.995000	0.50966	0.431000	0.31685	1.421000	0.34815	2.540000	0.85666	0.650000	0.86243	CCC	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401007.1		+	ENST00000197268.8	Missense_Mutation	SNP	12 : 13232935 - 13232935 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	135	14
DSG3	1830	broad.mit.edu	37	18	29055872	29055872	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29055872C>A	ENST00000257189.4	+	16	2732	c.2649C>A	c.(2647-2649)tcC>tcA	p.S883S		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	883					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGATTGAATCCTGTGGCCATC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	121	122			NA	NA	18		NA											NA				29055872		2203	4300	6503	SO:0001819	synonymous_variant			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757	1830	1830		Cadherins / Major cadherins	3050	protein-coding gene	gene with protein product	pemphigus vulgaris antigen	169615	desmoglein 3 (pemphigus vulgaris antigen)		NA	1601426	Standard	NM_001944	NM_001944	NA	Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2649C>A	18.37:g.29055872C>A		NA	A8K2V2	37	CCDS11898.1																																																																																			DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254949.1		+	ENST00000257189.4	Silent	SNP	18 : 29055872 - 29055872 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	584	110
USP32	84669	broad.mit.edu	37	17	58286802	58286802	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58286802G>A	ENST00000300896.4	-	22	2721	c.2527C>T	c.(2527-2529)Cga>Tga	p.R843*	USP32_ENST00000592339.1_Nonsense_Mutation_p.R513*	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	843					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TCATGGACTCGATTAAGATCT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	55	54			NA	NA	17		NA											NA				58286802		2203	4297	6500	SO:0001587	stop_gained			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832	84669	84669		Ubiquitin-specific peptidases, EF-hand domain containing	19143	protein-coding gene	gene with protein product		607740	ubiquitin specific protease 32		NA	12838346	Standard	NM_032582	NM_032582	NA	Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.2527C>T	17.37:g.58286802G>A	ENSP00000300896:p.Arg843*	NA	Q9BX85|Q9Y591	37	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	G	42	9.404400	0.99161	.	.	ENSG00000170832	ENST00000300896	.	.	.	5.47	3.4	0.38934	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2153	0.65788	0.0:0.0:0.5943:0.4057	.	.	.	.	X	843	.	ENSP00000300896:R843X	R	-	1	2	USP32	55641584	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.900000	0.48687	0.615000	0.30124	0.655000	0.94253	CGA	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449235.2		-	ENST00000300896.4	Nonsense_Mutation	SNP	17 : 58286802 - 58286802 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	799	113
KCNE4	23704	broad.mit.edu	37	2	223917882	223917882	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:223917882G>A	ENST00000281830.3	+	2	818	c.487G>A	c.(487-489)Gcg>Acg	p.A163T	KCNE4_ENST00000488477.2_Intron|KCNE4_ENST00000604125.1_Missense_Mutation_p.A112T			Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related family, member 4	112						integral to membrane	voltage-gated potassium channel activity			large_intestine(2)|lung(5)|ovary(2)|skin(1)	10		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		CGTGGCGCCCGCGCTGTCCTG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	46	46			NA	NA	2		NA											NA				223917882		2203	4300	6503	SO:0001583	missense			AY065987	CCDS2456.1, CCDS2456.2	2q36.1	2008-02-05			ENSG00000152049	ENSG00000152049	23704	23704		Potassium channels	6244	protein-coding gene	gene with protein product		607775			NA	10219239, 12670483	Standard	NM_080671	NM_080671	NA	Approved	MiRP3	uc002vnl.5	Q8WWG9	OTTHUMG00000133161	ENST00000281830.3:c.487G>A	2.37:g.223917882G>A	ENSP00000281830:p.Ala163Thr	NA	Q53SM4|Q96CC4	37		.	.	.	.	.	.	.	.	.	.	G	18.29	3.592390	0.66219	.	.	ENSG00000152049	ENST00000281830	.	.	.	6.16	5.24	0.73138	.	0.120024	0.64402	D	0.000014	T	0.27349	0.0671	N	0.14661	0.345	0.38093	D	0.937028	P	0.48998	0.918	B	0.35510	0.204	T	0.21724	-1.0237	9	0.48119	T	0.1	-7.5564	12.892	0.58076	0.0:0.1159:0.7509:0.1332	.	112	Q8WWG9	KCNE4_HUMAN	T	112	.	ENSP00000281830:A112T	A	+	1	0	KCNE4	223626126	1.000000	0.71417	0.972000	0.41901	1.000000	0.99986	3.571000	0.53841	2.937000	0.99478	0.650000	0.86243	GCG	KCNE4-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000330997.2		+	ENST00000281830.3	Missense_Mutation	SNP	2 : 223917882 - 223917882 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	415	118
ADAM12	8038	broad.mit.edu	37	10	127786984	127786984	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127786984C>A	ENST00000368679.4	-	10	1315		c.e10+1		ADAM12_ENST00000368676.4_Splice_Site	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	NA					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CCTTGGCTTACCATGACAATT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	152	156			NA	NA	10		NA											NA				127786984		2203	4300	6503	SO:0001630	splice_region_variant			AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848	8038	8038		ADAM metallopeptidase domain containing	190	protein-coding gene	gene with protein product	meltrin alpha	602714	a disintegrin and metalloproteinase domain 12 (meltrin alpha)		NA	9417060, 18342566	Standard		NM_003474	NA	Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1005+1G>T	10.37:g.127786984C>A		NA	O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	37	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347383	0.82022	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4753	0.90790	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAM12	127776974	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.502000	0.81614	2.655000	0.90218	0.655000	0.94253	.	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050961.1	Intron	-	ENST00000368679.4	Splice_Site	SNP	10 : 127786984 - 127786984 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	964	190
FBXO47	494188	broad.mit.edu	37	17	37113493	37113493	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37113493T>G	ENST00000378079.2	-	4	565	c.366A>C	c.(364-366)aaA>aaC	p.K122N		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	122										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						ATGTGCATCTTTTAAACAGTA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	172	172			NA	NA	17		NA											NA				37113493		2203	4300	6503	SO:0001583	missense				CCDS32639.1	17q12	2014-08-12			ENSG00000204952	ENSG00000204952	494188	494188		F-boxes /  other	31969	protein-coding gene	gene with protein product		609498			NA	15723337	Standard	NM_001008777	NM_001008777	NA	Approved		uc002hrc.2	Q5MNV8	OTTHUMG00000178945	ENST00000378079.2:c.366A>C	17.37:g.37113493T>G	ENSP00000367319:p.Lys122Asn	NA	B2RTZ4	37	CCDS32639.1	.	.	.	.	.	.	.	.	.	.	T	17.27	3.348317	0.61183	.	.	ENSG00000204952	ENST00000378079	T	0.50277	0.75	5.0	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.62539	0.2436	M	0.71581	2.175	0.40979	D	0.984767	D	0.76494	0.999	D	0.80764	0.994	T	0.64162	-0.6472	10	0.87932	D	0	-3.8362	6.6748	0.23087	0.0:0.2598:0.0:0.7402	.	122	Q5MNV8	FBX47_HUMAN	N	122	ENSP00000367319:K122N	ENSP00000367319:K122N	K	-	3	2	FBXO47	34367019	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	0.732000	0.26072	0.856000	0.35383	0.528000	0.53228	AAA	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444073.1		-	ENST00000378079.2	Missense_Mutation	SNP	17 : 37113493 - 37113493 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	663	118
C5orf45	51149	broad.mit.edu	37	5	179264406	179264406	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179264406G>A	ENST00000292586.6	-	7	1107	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F	C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000523084.1_Silent_p.F205F|C5orf45_ENST00000518219.1_3'UTR|C5orf45_ENST00000376931.2_Silent_p.F284F|C5orf45_ENST00000520698.1_Intron|SQSTM1_ENST00000389805.4_3'UTR|SQSTM1_ENST00000376929.3_3'UTR|C5orf45_ENST00000403396.2_Intron|C5orf45_ENST00000518235.1_Intron	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	339										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						CATCATCATCGAAGTCTTCCC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													182	184	183			NA	NA	5		NA											NA				179264406		2203	4300	6503	SO:0001819	synonymous_variant				CCDS34318.1, CCDS34319.1	5q35.3	2008-07-10			ENSG00000161010	ENSG00000161010	51149	51149			30817	protein-coding gene	gene with protein product	truncated calcium binding protein				NA		Standard	NM_016175	NM_016175	NA	Approved	MGC65027, MGC78537, DKFZp686L2452, LOC51149	uc003mla.3	Q6NTE8	OTTHUMG00000163490	ENST00000292586.6:c.1017C>T	5.37:g.179264406G>A		NA	B5MD09|Q7Z3D8|Q9BUC1|Q9UN54	37	CCDS34319.1																																																																																			C5orf45-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373760.2		-	ENST00000292586.6	Silent	SNP	5 : 179264406 - 179264406 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1423	350
MRPS2	51116	broad.mit.edu	37	9	138395608	138395608	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138395608G>A	ENST00000371785.1	+	5	729	c.520G>A	c.(520-522)Ggc>Agc	p.G174S	MRPS2_ENST00000241600.5_Missense_Mutation_p.G174S|MRPS2_ENST00000488610.1_3'UTR|RP11-426A6.5_ENST00000415062.1_RNA			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	174					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		CTTCAGGGGCGGCATGCTGAC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	54	56			NA	NA	9		NA											NA				138395608		2203	4300	6503	SO:0001583	missense			AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140	51116	51116		Mitochondrial ribosomal proteins / small subunits	14495	protein-coding gene	gene with protein product		611971			NA		Standard		NM_016034	NA	Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.520G>A	9.37:g.138395608G>A	ENSP00000360850:p.Gly174Ser	NA	Q5T899|Q9BSQ4	37	CCDS6990.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579148	0.86645	.	.	ENSG00000122140	ENST00000371785;ENST00000241600;ENST00000453385	T;T;T	0.78816	-1.21;-1.21;-1.21	4.56	3.66	0.41972	Ribosomal protein S2, flavodoxin-like domain (1);	0.051133	0.85682	D	0.000000	D	0.91703	0.7377	H	0.98089	4.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.992	D	0.93279	0.6658	10	0.87932	D	0	-49.8301	11.7384	0.51778	0.0857:0.0:0.9143:0.0	.	188;174	Q5T8A0;Q9Y399	.;RT02_HUMAN	S	174;174;188	ENSP00000360850:G174S;ENSP00000241600:G174S;ENSP00000400082:G188S	ENSP00000241600:G174S	G	+	1	0	MRPS2	137535429	1.000000	0.71417	0.957000	0.39632	0.740000	0.42216	8.540000	0.90641	1.140000	0.42260	0.585000	0.79938	GGC	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054998.1		+	ENST00000371785.1	Missense_Mutation	SNP	9 : 138395608 - 138395608 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	50
LRRC30	339291	broad.mit.edu	37	18	7231272	7231272	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7231272C>T	ENST00000383467.2	+	1	150	c.136C>T	c.(136-138)Cgg>Tgg	p.R46W		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	46										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CCTGCTGAAGCGGGGCATGCA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TRP/ARG	1,3965		0,1,1982	71	75	73		136	5.7	1	18		73	0,8322		0,0,4161	no	missense	LRRC30	NM_001105581.1	101	0,1,6143	TT,TC,CC	NA	0.0,0.0252,0.0081	probably-damaging	46/302	7231272	1,12287	1983	4161	6144	SO:0001583	missense				CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422	339291	339291			30219	protein-coding gene	gene with protein product					NA		Standard	XM_292678	NM_001105581	NA	Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.136C>T	18.37:g.7231272C>T	ENSP00000372959:p.Arg46Trp	NA		37	CCDS42409.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017675	0.75161	2.52E-4	0.0	ENSG00000206422	ENST00000383467	T	0.46063	0.88	5.65	5.65	0.86999	.	0.523108	0.19917	N	0.103161	T	0.39226	0.1070	L	0.32530	0.975	0.38096	D	0.937119	D	0.71674	0.998	P	0.47528	0.549	T	0.35500	-0.9786	10	0.56958	D	0.05	.	12.5974	0.56478	0.0:0.9239:0.0:0.0761	.	46	A6NM36	LRC30_HUMAN	W	46	ENSP00000372959:R46W	ENSP00000372959:R46W	R	+	1	2	LRRC30	7221272	0.998000	0.40836	0.976000	0.42696	0.825000	0.46686	0.830000	0.27462	2.827000	0.97445	0.650000	0.86243	CGG	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442140.1		+	ENST00000383467.2	Missense_Mutation	SNP	18 : 7231272 - 7231272 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	555	103
CTU2	348180	broad.mit.edu	37	16	88779151	88779151	+	Missense_Mutation	SNP	G	G	A	rs148549191		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88779151G>A	ENST00000567949.1	+	7	797	c.788G>A	c.(787-789)gGt>gAt	p.G263D	CTU2_ENST00000312060.5_Missense_Mutation_p.G192D|CTU2_ENST00000378384.3_Missense_Mutation_p.G105D|CTU2_ENST00000453996.2_Missense_Mutation_p.G192D			Q2VPK5	CTU2_HUMAN	cytosolic thiouridylase subunit 2 homolog (S. pombe)	192					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						GGGGCCGGGGGTGGTCCTGGC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	21	19			NA	NA	16		NA											NA				88779151		2189	4291	6480	SO:0001583	missense			BC021056	CCDS32506.1, CCDS45545.1	16q24.3	2013-10-11	2009-08-19	2009-08-19		ENSG00000174177	348180	348180			28005	protein-coding gene	gene with protein product			chromosome 16 open reading frame 84	C16orf84	NA	19017811	Standard	NM_001012762	NM_001012759	NA	Approved	NCS2	uc002flm.3	Q2VPK5		ENST00000567949.1:c.788G>A	16.37:g.88779151G>A	ENSP00000456908:p.Gly263Asp	NA	B2RXK0|Q0P511|Q66K78|Q6P4C8|Q86SV4	37		.	.	.	.	.	.	.	.	.	.	G	9.682	1.149695	0.21288	.	.	ENSG00000174177	ENST00000378384;ENST00000312060;ENST00000453996	T;T;T	0.17854	2.25;2.52;2.52	3.92	-3.67	0.04476	.	0.152892	0.42682	D	0.000675	T	0.06735	0.0172	N	0.13043	0.29	0.09310	N	1	B;B;B	0.11235	0.004;0.0;0.001	B;B;B	0.09377	0.004;0.001;0.001	T	0.22977	-1.0201	10	0.27082	T	0.32	.	5.9226	0.19091	0.2995:0.2982:0.4022:0.0	.	105;192;192	Q2VPK5-3;Q2VPK5-5;Q2VPK5	.;.;CTU2_HUMAN	D	105;192;192	ENSP00000367635:G105D;ENSP00000308617:G192D;ENSP00000388320:G192D	ENSP00000308617:G192D	G	+	2	0	CTU2	87306652	0.523000	0.26274	0.000000	0.03702	0.002000	0.02628	0.565000	0.23578	-0.703000	0.05049	-0.312000	0.09012	GGT	CTU2-004	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000423028.1		+	ENST00000567949.1	Missense_Mutation	SNP	16 : 88779151 - 88779151 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	224	37
DIP2C	22982	broad.mit.edu	37	10	410407	410407	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:410407C>T	ENST00000280886.6	-	20	2471	c.2384G>A	c.(2383-2385)gGc>gAc	p.G795D	DIP2C_ENST00000540204.1_Missense_Mutation_p.G116D|DIP2C_ENST00000381496.3_3'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	795						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CACCATGAGGCCATCCATCTT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	82	83			NA	NA	10		NA											NA				410407		2203	4300	6503	SO:0001583	missense			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240	22982	22982			29150	protein-coding gene	gene with protein product		611380	KIAA0934	KIAA0934	NA		Standard	NM_014974	NM_014974	NA	Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.2384G>A	10.37:g.410407C>T	ENSP00000280886:p.Gly795Asp	NA	Q5SS78	37	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281958	0.59867	.	.	ENSG00000151240	ENST00000280886;ENST00000540204	T;T	0.25749	3.43;1.78	5.26	5.26	0.73747	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.50069	0.1594	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;0.988	D;D	0.83275	0.996;0.91	T	0.53063	-0.8491	10	0.02654	T	1	-25.6232	18.871	0.92315	0.0:1.0:0.0:0.0	.	116;795	B4DPI5;Q9Y2E4	.;DIP2C_HUMAN	D	795;116	ENSP00000280886:G795D;ENSP00000443826:G116D	ENSP00000280886:G795D	G	-	2	0	DIP2C	400407	1.000000	0.71417	0.978000	0.43139	0.678000	0.39670	7.818000	0.86416	2.458000	0.83093	0.305000	0.20034	GGC	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046389.1		-	ENST00000280886.6	Missense_Mutation	SNP	10 : 410407 - 410407 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	578	110
ARHGAP17	55114	broad.mit.edu	37	16	24958811	24958811	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24958811T>C	ENST00000289968.6	-	14	1302	c.1233A>G	c.(1231-1233)agA>agG	p.R411R	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Silent_p.R411R	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	411	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		ACCCTTCATTTCTGGCCCATA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	86	91			NA	NA	16		NA											NA				24958811		2197	4300	6497	SO:0001819	synonymous_variant			AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750	55114	55114		Rho GTPase activating proteins	18239	protein-coding gene	gene with protein product		608293			NA	10967100, 11431473	Standard	NM_018054	XM_005255413	NA	Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.1233A>G	16.37:g.24958811T>C		NA	A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	37	CCDS32409.1																																																																																			ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000436548.3		-	ENST00000289968.6	Silent	SNP	16 : 24958811 - 24958811 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	302	18
PLCB2	5330	broad.mit.edu	37	15	40595493	40595493	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40595493G>A	ENST00000543785.2	-	3	464	c.227C>T	c.(226-228)cCc>cTc	p.P76L	PLCB2_ENST00000557821.1_Missense_Mutation_p.P76L|PLCB2_ENST00000260402.3_Missense_Mutation_p.P76L|PLCB2_ENST00000456256.2_Missense_Mutation_p.P76L	NM_001284299.1	NP_001271228.1	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	76					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.P76L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		ACCTACCTTGGGCATCTTGGC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											93	92	92			NA	NA	15		NA											NA				40595493		1986	4167	6153	SO:0001583	missense				CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	5330	5330	3.1.4.11		9055	protein-coding gene	gene with protein product		604114			NA	1644792, 9925923	Standard		XM_005254448	NA	Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000543785.2:c.227C>T	15.37:g.40595493G>A	ENSP00000444652:p.Pro76Leu	NA	A8K6J2	37		.	.	.	.	.	.	.	.	.	.	G	23.3	4.403713	0.83230	.	.	ENSG00000137841	ENST00000260402;ENST00000456256;ENST00000543785	T;T;T	0.42513	0.97;0.97;0.97	4.53	3.61	0.41365	.	0.186336	0.47852	N	0.000216	T	0.62913	0.2467	M	0.75615	2.305	0.80722	D	1	D;P;D;D	0.89917	1.0;0.94;1.0;0.998	D;P;D;D	0.97110	0.999;0.885;1.0;0.967	T	0.67995	-0.5526	10	0.87932	D	0	.	13.0206	0.58784	0.0788:0.0:0.9212:0.0	.	76;76;76;76	B9EGH5;Q00722-2;Q9BVT6;Q00722	.;.;.;PLCB2_HUMAN	L	76	ENSP00000260402:P76L;ENSP00000411991:P76L;ENSP00000444652:P76L	ENSP00000260402:P76L	P	-	2	0	PLCB2	38382785	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	8.386000	0.90166	1.253000	0.44018	0.655000	0.94253	CCC	PLCB2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000418439.1		-	ENST00000543785.2	Missense_Mutation	SNP	15 : 40595493 - 40595493 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	396	62
CSNK1A1L	122011	broad.mit.edu	37	13	37679320	37679320	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37679320G>A	ENST00000379800.3	-	1	483	c.74C>T	c.(73-75)tCt>tTt	p.S25F		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	25	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		AAAGGAGCCAGACCCGATCTT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	123	127			NA	NA	13		NA											NA				37679320		2203	4300	6503	SO:0001583	missense			BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138	122011	122011			20289	protein-coding gene	gene with protein product					NA		Standard	NM_145203	NM_145203	NA	Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.74C>T	13.37:g.37679320G>A	ENSP00000369126:p.Ser25Phe	NA	Q5T2N2	37	CCDS9363.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.454180	0.26161	.	.	ENSG00000180138	ENST00000379800	T	0.68331	-0.32	0.778	0.778	0.18543	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76371	0.3978	H	0.98646	4.29	0.43137	D	0.994882	B	0.22800	0.075	B	0.27170	0.077	T	0.76203	-0.3045	10	0.87932	D	0	.	7.3576	0.26727	0.0:0.0:1.0:0.0	.	25	Q8N752	KC1AL_HUMAN	F	25	ENSP00000369126:S25F	ENSP00000369126:S25F	S	-	2	0	CSNK1A1L	36577320	0.053000	0.20554	0.920000	0.36463	0.996000	0.88848	1.522000	0.35921	0.686000	0.31488	0.561000	0.74099	TCT	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044563.1		-	ENST00000379800.3	Missense_Mutation	SNP	13 : 37679320 - 37679320 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	582	71
STAC2	342667	broad.mit.edu	37	17	37371375	37371375	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37371375C>T	ENST00000333461.5	-	5	1064	c.695G>A	c.(694-696)aGc>aAc	p.S232N		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	232					intracellular signal transduction		metal ion binding	p.S232N(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						CCATACCAGGCTCCTTGTCGG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											89	90	89			NA	NA	17		NA											NA				37371375		2203	4300	6503	SO:0001583	missense			AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750	342667	342667			23990	protein-coding gene	gene with protein product					NA		Standard	NM_198993	NM_198993	NA	Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.695G>A	17.37:g.37371375C>T	ENSP00000327509:p.Ser232Asn	NA	Q32MA3	37	CCDS11335.1	.	.	.	.	.	.	.	.	.	.	c	17.02	3.281530	0.59758	.	.	ENSG00000141750	ENST00000333461	D	0.81579	-1.51	4.83	3.84	0.44239	.	0.464554	0.23409	N	0.048484	T	0.72455	0.3462	N	0.24115	0.695	0.44918	D	0.997938	B	0.32245	0.361	B	0.37943	0.261	T	0.71041	-0.4707	10	0.46703	T	0.11	-10.2716	13.8386	0.63424	0.0:0.8449:0.1551:0.0	.	232	Q6ZMT1	STAC2_HUMAN	N	232	ENSP00000327509:S232N	ENSP00000327509:S232N	S	-	2	0	STAC2	34624901	1.000000	0.71417	0.993000	0.49108	0.979000	0.70002	4.916000	0.63362	0.996000	0.38943	0.511000	0.50034	AGC	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444533.2		-	ENST00000333461.5	Missense_Mutation	SNP	17 : 37371375 - 37371375 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	502	94
DENND6A	201627	broad.mit.edu	37	3	57616552	57616552	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57616552C>A	ENST00000311128.5	-	17	1478		c.e17-1		RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1			DENN/MADD domain containing 6A	NA											NA						GAGGTGGACTCTAGAAAACAG	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	68	67			NA	NA	3		NA											NA				57616552		2201	4300	6501	SO:0001630	splice_region_variant			AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839	201627	201627		DENN/MADD domain containing	26635	protein-coding gene	gene with protein product			family with sequence similarity 116, member A	FAM116A	NA	21330364	Standard	NM_152678	NM_152678	NA	Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.1408-1G>T	3.37:g.57616552C>A		NA		37	CCDS33773.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641785	0.67244	.	.	ENSG00000174839	ENST00000311128;ENST00000471531	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3593	0.98849	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM116A	57591592	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.658000	0.61497	2.822000	0.97130	0.557000	0.71058	.	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351594.1	Intron	-	ENST00000311128.5	Splice_Site	SNP	3 : 57616552 - 57616552 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	223	48
RUNX2	860	broad.mit.edu	37	6	45514903	45514903	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:45514903C>T	ENST00000371438.1	+	8	1785	c.1427C>T	c.(1426-1428)aCc>aTc	p.T476I	RUNX2_ENST00000359524.5_Missense_Mutation_p.T462I|RUNX2_ENST00000371432.3_Missense_Mutation_p.T440I|RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000371436.6_Missense_Mutation_p.T454I|RUNX2_ENST00000541979.1_Missense_Mutation_p.T522I|RUNX2_ENST00000465038.2_Missense_Mutation_p.T476I|RUNX2_ENST00000352853.5_Missense_Mutation_p.T544I	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	476	Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TGCACCACCACCTCGAATGGC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	87	89			NA	NA	6		NA											NA				45514903		2203	4300	6503	SO:0001583	missense			AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813	860	860			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1	NA	7835892	Standard	NM_004348	NM_001024630	NA	Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.1427C>T	6.37:g.45514903C>T	ENSP00000360493:p.Thr476Ile	NA	O14614|O14615|O95181	37	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006934	0.74932	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.77	5.77	0.91146	Runx inhibition (1);	0.043176	0.85682	D	0.000000	T	0.26340	0.0643	N	0.08118	0	0.53688	D	0.999974	P;P;P	0.49447	0.696;0.924;0.692	B;P;B	0.58266	0.373;0.836;0.275	T	0.34079	-0.9843	10	0.72032	D	0.01	-9.0178	20.3627	0.98863	0.0:1.0:0.0:0.0	.	522;476;462	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	I	476;544;522;476;454;462;440	ENSP00000420707:T476I;ENSP00000319087:T544I;ENSP00000446290:T522I;ENSP00000360493:T476I;ENSP00000360491:T454I;ENSP00000352514:T462I;ENSP00000360486:T440I	ENSP00000319087:T544I	T	+	2	0	RUNX2	45622881	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.885000	0.99019	0.655000	0.94253	ACC	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040755.2		+	ENST00000371438.1	Missense_Mutation	SNP	6 : 45514903 - 45514903 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	454	69
TAP2	6891	broad.mit.edu	37	6	32800500	32800500	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32800500C>T	ENST00000452392.2	-	6	1220	c.1047G>A	c.(1045-1047)gaG>gaA	p.E349E	TAP2_ENST00000374897.2_Silent_p.E349E|TAP2_ENST00000374899.4_Silent_p.E349E|TAP2_ENST00000485701.1_5'UTR			Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	349	ABC transmembrane type-1.|Involved in peptide-binding site.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				NA						AGACTTCATGCTCCTCGGCCC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	104	109			NA	NA	6		NA											NA				32800500		1511	2709	4220	SO:0001819	synonymous_variant			M74447	CCDS4755.1	6p21.3	2014-09-17			ENSG00000204267	ENSG00000204267	6891	6891		ATP binding cassette transporters / subfamily B	44	protein-coding gene	gene with protein product		170261		ABCB3	NA	1529427, 1946428, 16395595	Standard	NM_000544	NM_001290043	NA	Approved	PSF2, RING11, D6S217E	uc003ocd.3	Q03519	OTTHUMG00000031068	ENST00000452392.2:c.1047G>A	6.37:g.32800500C>T		NA	B0V2J8|O95410|Q9UQ83	37																																																																																				TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000361828.1		-	ENST00000452392.2	Silent	SNP	6 : 32800500 - 32800500 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	592	116
HAGHL	84264	broad.mit.edu	37	16	784812	784812	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:784812G>A	ENST00000569604.1	+	0	1449				NARFL_ENST00000568545.1_Nonsense_Mutation_p.R65*|NARFL_ENST00000301694.5_Silent_p.S122S|NARFL_ENST00000251588.2_Nonsense_Mutation_p.R167*|NARFL_ENST00000540986.1_Nonsense_Mutation_p.R65*			Q6PII5	HAGHL_HUMAN	hydroxyacylglutathione hydrolase-like	NA							hydrolase activity|metal ion binding			lung(3)	3		Hepatocellular(780;0.00335)				ACAAACTCTCGCTGGCTCTCC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(46;538 1326 12403 32360)							NA				0													72	71	71			NA	NA	16		NA											NA				784812		2200	4300	6500	SO:0001624	3_prime_UTR_variant			AK054841	CCDS32354.1	16p13.3	2008-02-05	2003-11-04				84264	84264			14177	protein-coding gene	gene with protein product			hydroxyacyl glutathione hydrolase-like		NA	12477932	Standard	NM_032304	XM_005255629	NA	Approved	MGC2605	uc002cjo.1	Q6PII5		ENST00000569604.1:c.*1446G>A	16.37:g.784812G>A		NA	A6NCC4|D3DU64|Q59FX8|Q96BZ3|Q96NR5|Q96S11|Q9BT45	37		.	.	.	.	.	.	.	.	.	.	g	40	8.095785	0.98651	.	.	ENSG00000103245	ENST00000251588;ENST00000540986	.	.	.	5.48	3.47	0.39725	.	0.111691	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-24.7795	8.8158	0.34996	0.0722:0.0:0.6566:0.2711	.	.	.	.	X	167;65	.	ENSP00000251588:R167X	R	-	1	2	NARFL	724813	0.965000	0.33210	0.958000	0.39756	0.920000	0.55202	1.599000	0.36751	0.641000	0.30601	0.561000	0.74099	CGA	HAGHL-019	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000441116.1		+	ENST00000569604.1	3'UTR	SNP	16 : 784812 - 784812 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	369	96
CRABP2	1382	broad.mit.edu	37	1	156670843	156670843	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156670843C>T	ENST00000368222.3	-	2	226	c.72G>A	c.(70-72)ggG>ggA	p.G24G	CRABP2_ENST00000368221.1_Splice_Site_p.G24G	NM_001199723.1|NM_001878.3	NP_001186652.1|NP_001869.1	P29373	RABP2_HUMAN	cellular retinoic acid binding protein 2	24					epidermis development|regulation of transcription, DNA-dependent|signal transduction	cytoplasm|nucleus	retinal binding|retinol binding|transporter activity			endometrium(2)|lung(3)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				Alitretinoin(DB00523)	TCACATTCACCCCTGTGGGGA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	65	68			NA	NA	1		NA											NA				156670843		2203	4300	6503	SO:0001630	splice_region_variant			BC001109	CCDS1152.1	1q21.3	2013-03-01	2001-11-28		ENSG00000143320	ENSG00000143320	1382	1382		Fatty acid binding protein family	2339	protein-coding gene	gene with protein product		180231	cellular retinoic acid-binding protein 2		NA	1654334	Standard	NM_001878	NM_001878	NA	Approved	CRABP-II	uc001fpr.3	P29373	OTTHUMG00000041300	ENST00000368222.3:c.71-1G>A	1.37:g.156670843C>T		NA	B2R4Z8|D3DVC5|Q6ICN6	37	CCDS1152.1																																																																																			CRABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000098966.1	Silent	-	ENST00000368222.3	Splice_Site	SNP	1 : 156670843 - 156670843 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	24
HFE2	148738	broad.mit.edu	37	1	145415658	145415658	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145415658T>C	ENST00000336751.5	+	3	715	c.477T>C	c.(475-477)ggT>ggC	p.G159G	HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron|HFE2_ENST00000357836.5_Silent_p.G46G	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	159					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGCTGCATGGTCGTCCCCCGG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	43	44			NA	NA	1		NA											NA				145415658		2203	4300	6503	SO:0001819	synonymous_variant			AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509	148738	148738			4887	protein-coding gene	gene with protein product	repulsive guidance molecule c	608374			NA	10205270, 14647275	Standard	NM_145277	NM_213653	NA	Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.477T>C	1.37:g.145415658T>C		NA	B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	37	CCDS910.1																																																																																			HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000038527.1		+	ENST00000336751.5	Silent	SNP	1 : 145415658 - 145415658 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	90
FLG2	388698	broad.mit.edu	37	1	152323561	152323561	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152323561T>C	ENST00000388718.5	-	3	6773	c.6701A>G	c.(6700-6702)cAc>cGc	p.H2234R	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2234							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATAACCATAGTGGGCATGTCT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													411	375	387			NA	NA	1		NA											NA				152323561		2203	4300	6503	SO:0001583	missense			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520	388698	388698		EF-hand domain containing	33276	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_001014342	NM_001014342	NA	Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6701A>G	1.37:g.152323561T>C	ENSP00000373370:p.His2234Arg	NA	Q9H4U1	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	T	5.866	0.343922	0.11126	.	.	ENSG00000143520	ENST00000388718	T	0.03717	3.83	3.52	-0.349	0.12609	.	.	.	.	.	T	0.02533	0.0077	L	0.46157	1.445	0.09310	N	1	D	0.62365	0.991	D	0.65773	0.938	T	0.37267	-0.9713	9	0.19147	T	0.46	3.5718	2.6873	0.05111	0.1937:0.226:0.0:0.5803	.	2234	Q5D862	FILA2_HUMAN	R	2234	ENSP00000373370:H2234R	ENSP00000373370:H2234R	H	-	2	0	FLG2	150590185	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.973000	0.01500	-0.055000	0.13244	0.450000	0.29827	CAC	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034018.5		-	ENST00000388718.5	Missense_Mutation	SNP	1 : 152323561 - 152323561 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2535	429
BRD4	23476	broad.mit.edu	37	19	15364970	15364970	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15364970G>A	ENST00000263377.2	-	11	2372	c.2151C>T	c.(2149-2151)tcC>tcT	p.S717S	BRD4_ENST00000371835.4_Silent_p.S717S|BRD4_ENST00000360016.5_Silent_p.S717S	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	717	Ser-rich.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			AACCTGTTTCGGAGTCTTCGC	0.542		NA	T	C15orf55	lethal midline carcinoma of young people									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0													76	66	70			NA	NA	19		NA											NA				15364970		2203	4300	6503	SO:0001819	synonymous_variant			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867	23476	23476			13575	protein-coding gene	gene with protein product	chromosome-associated protein	608749	bromodomain-containing 4		NA	10938129	Standard	NM_058243	NM_058243	NA	Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.2151C>T	19.37:g.15364970G>A		NA	O60433|Q86YS8|Q96PD3	37	CCDS12328.1																																																																																			BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465800.3		-	ENST00000263377.2	Silent	SNP	19 : 15364970 - 15364970 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	249	24
ZNF420	147923	broad.mit.edu	37	19	37618211	37618211	+	Nonsense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37618211T>G	ENST00000337995.3	+	5	533	c.318T>G	c.(316-318)taT>taG	p.Y106*	ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Nonsense_Mutation_p.Y106*	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAAGGAATATTTCAGGCAAG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	104	105			NA	NA	19		NA											NA				37618211		2203	4300	6503	SO:0001587	stop_gained			AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050	147923	147923		Zinc fingers, C2H2-type, -	20649	protein-coding gene	gene with protein product					NA		Standard	NM_144689	NM_144689	NA	Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.318T>G	19.37:g.37618211T>G	ENSP00000338770:p.Tyr106*	NA	B2RDY6	37	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	T	16.01	3.001244	0.54254	.	.	ENSG00000197050	ENST00000304239;ENST00000337995	.	.	.	3.77	3.77	0.43336	.	.	.	.	.	.	.	.	.	.	.	0.19300	N	0.999979	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0673	0.36471	0.0:0.0:0.0:1.0	.	.	.	.	X	106	.	ENSP00000306102:Y106X	Y	+	3	2	ZNF420	42310051	0.010000	0.17322	0.138000	0.22173	0.623000	0.37688	1.531000	0.36018	1.698000	0.51180	0.459000	0.35465	TAT	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109587.3		+	ENST00000337995.3	Nonsense_Mutation	SNP	19 : 37618211 - 37618211 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	64
OOEP	441161	broad.mit.edu	37	6	74104604	74104604	+	Translation_Start_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74104604G>A	ENST00000370363.1	-	0	212				DDX43_ENST00000539829.1_5'UTR|DDX43_ENST00000370336.4_5'UTR			A6NGQ2	OOEP_HUMAN	oocyte expressed protein	NA						cytoplasm				large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						CGGCAACGACGTCGGACGCGC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	41	40			NA	NA	6		NA											NA				74104604		2203	4300	6503					BC024931	CCDS47451.1	6q13	2012-02-22	2012-02-22	2007-11-13	ENSG00000203907	ENSG00000203907	441161	441161			21382	protein-coding gene	gene with protein product	KH homology domain containing 2	611689	chromosome 6 open reading frame 156, oocyte expressed protein homolog (dog)	C6orf156	NA	17913455	Standard	NM_001080507	NM_001080507	NA	Approved	Em:AC019205.2, KHDC2	uc003pgu.4	A6NGQ2	OTTHUMG00000150057	ENST00000370363.1:	6.37:g.74104604G>A		NA	A6NIN5|A9UIB7	37																																																																																				OOEP-001	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000041200.1		-	ENST00000370363.1	De_novo_Start_InFrame	SNP	6 : 74104604 - 74104604 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	70
ADAMTS18	170692	broad.mit.edu	37	16	77389909	77389909	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77389909G>A	ENST00000282849.5	-	9	1806	c.1388C>T	c.(1387-1389)cCc>cTc	p.P463L		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	463	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GGTCAGTGTGGGAGACATGAT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	121	128			NA	NA	16		NA											NA				77389909		2198	4300	6498	SO:0001583	missense			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873	170692	170692		ADAM metallopeptidases with thrombospondin type 1 motif	17110	protein-coding gene	gene with protein product		607512	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18	ADAMTS21	NA	11867212, 17546048	Standard		NM_199355	NA	Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1388C>T	16.37:g.77389909G>A	ENSP00000282849:p.Pro463Leu	NA	Q6P4R5|Q6ZWJ9	37	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097467	0.76870	.	.	ENSG00000140873	ENST00000282849	T	0.03441	3.93	5.19	5.19	0.71726	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.30479	0.0766	H	0.96175	3.78	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.986;0.995	T	0.44190	-0.9344	10	0.87932	D	0	.	18.2505	0.90000	0.0:0.0:1.0:0.0	.	463;463	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	L	463	ENSP00000282849:P463L	ENSP00000282849:P463L	P	-	2	0	ADAMTS18	75947410	1.000000	0.71417	0.828000	0.32881	0.312000	0.27988	9.601000	0.98297	2.865000	0.98341	0.655000	0.94253	CCC	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269037.1		-	ENST00000282849.5	Missense_Mutation	SNP	16 : 77389909 - 77389909 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	512	147
FBN1	2200	broad.mit.edu	37	15	48704816	48704816	+	Missense_Mutation	SNP	G	G	A	rs61746008	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48704816G>A	ENST00000316623.5	-	65	8631	c.8176C>T	c.(8176-8178)Cgg>Tgg	p.R2726W	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2726			R -> W (in MFS; defects in protein processing).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTCCTGCCCCGTTTGGGGTAG	0.517		NA											G	1	5e-04	NA	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	4e-04	0.95	LOWCOV,EXOME	NA	NA	8e-04	SNP								NA				0			GRCh37	CM950453	FBN1	M	rs61746008	G	TRP/ARG	5,4391	11.4+/-27.6	0,5,2193	228	186	200	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	8176	1	0.9	15	dbSNP_129	200	9,8583	7.1+/-27.0	0,9,4287	yes	missense	FBN1	NM_000138.4	101	0,14,6480	AA,AG,GG	NA	0.1047,0.1137,0.1078	probably-damaging	2726/2872	48704816	14,12974	2198	4296	6494	SO:0001583	missense			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147	2200	2200			3603	protein-coding gene	gene with protein product	Marfan syndrome	134797	fibrillin 1 (Marfan syndrome)	FBN, MFS1, WMS	NA	10036187, 12525539	Standard		NM_000138	NA	Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.8176C>T	15.37:g.48704816G>A	ENSP00000325527:p.Arg2726Trp	NA	B2RUU0|Q15972|Q75N87	37	CCDS32232.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	17.11	3.306873	0.60305	0.001137	0.001047	ENSG00000166147	ENST00000316623	D	0.83591	-1.74	5.38	1.03	0.20045	Growth factor, receptor (1);	0.104411	0.64402	D	0.000004	T	0.79275	0.4418	M	0.69823	2.125	0.80722	D	1	B	0.12630	0.006	B	0.04013	0.001	T	0.74785	-0.3547	10	0.87932	D	0	.	9.5746	0.39450	0.0692:0.0:0.3942:0.5366	.	2726	P35555	FBN1_HUMAN	W	2726	ENSP00000325527:R2726W	ENSP00000325527:R2726W	R	-	1	2	FBN1	46492108	1.000000	0.71417	0.888000	0.34837	0.873000	0.50193	2.367000	0.44213	0.348000	0.23949	0.655000	0.94253	CGG	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417355.1		-	ENST00000316623.5	Missense_Mutation	SNP	15 : 48704816 - 48704816 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	822	167
PCDHA1	56147	broad.mit.edu	37	5	140167711	140167711	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140167711G>T	ENST00000504120.2	+	1	1836	c.1836G>T	c.(1834-1836)caG>caT	p.Q612H	PCDHA1_ENST00000378133.3_Missense_Mutation_p.Q612H|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1			protocadherin alpha 1	NA										breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAACTGCAGCCGGCAGCAG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	78	77			NA	NA	5		NA											NA				140167711		2203	4299	6502	SO:0001583	missense			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970	56147	56147		Cadherins / Protocadherins : Clustered	8663	other	complex locus constituent	KIAA0345-like 13	606307			NA	10380929	Standard	NM_018900	NM_018900	NA	Approved			Q9Y5I3		ENST00000504120.2:c.1836G>T	5.37:g.140167711G>T	ENSP00000420840:p.Gln612His	NA		37	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	0.136	-1.107277	0.01813	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.52526	0.66;0.66	3.5	1.63	0.23807	Cadherin (4);Cadherin-like (1);	1.601980	0.05045	U	0.476965	T	0.34454	0.0898	L	0.33668	1.02	0.09310	N	1	B;B	0.17038	0.02;0.009	B;B	0.20577	0.03;0.013	T	0.25641	-1.0126	10	0.40728	T	0.16	.	0.9002	0.01272	0.3148:0.1704:0.3632:0.1517	.	612;612	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	H	612	ENSP00000420840:Q612H;ENSP00000367373:Q612H	ENSP00000367373:Q612H	Q	+	3	2	PCDHA1	140147895	0.005000	0.15991	0.005000	0.12908	0.005000	0.04900	1.399000	0.34566	0.113000	0.18004	-0.439000	0.05793	CAG	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389127.1		+	ENST00000504120.2	Missense_Mutation	SNP	5 : 140167711 - 140167711 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	793	152
SETX	23064	broad.mit.edu	37	9	135139642	135139642	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135139642T>G	ENST00000224140.5	-	26	8200	c.8018A>C	c.(8017-8019)aAa>aCa	p.K2673T	SETX_ENST00000393220.1_Missense_Mutation_p.K2640T|SETX_ENST00000477049.1_5'UTR|SETX_ENST00000372169.2_Missense_Mutation_p.K2702T	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2673	Necessary for nuclear localization.				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AAGCTTTCTTTTCTTGGAACT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	126	123			NA	NA	9		NA											NA				135139642		2203	4300	6503	SO:0001583	missense			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290	23064	23064			445	protein-coding gene	gene with protein product		608465	amyotrophic lateral sclerosis 4, spinocerebellar ataxia, recessive, non-Friedreich type 1	ALS4, SCAR1	NA	9497266, 11022012	Standard	NM_015046	NM_015046	NA	Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.8018A>C	9.37:g.135139642T>G	ENSP00000224140:p.Lys2673Thr	NA	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	37	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.846347	0.71603	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.92348	-2.33;-3.02;-2.52;-2.12	5.57	-2.46	0.06461	.	3.800430	0.00819	N	0.001576	D	0.91061	0.7187	L	0.32530	0.975	0.18873	N	0.999981	P;P;P	0.41848	0.763;0.651;0.763	P;B;P	0.47346	0.544;0.15;0.544	T	0.82462	-0.0445	10	0.66056	D	0.02	.	13.8209	0.63320	0.0:0.7622:0.0:0.2378	.	2640;2673;2702	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	T	2673;944;2702;2640	ENSP00000224140:K2673T;ENSP00000409143:K944T;ENSP00000361242:K2702T;ENSP00000376913:K2640T	ENSP00000224140:K2673T	K	-	2	0	SETX	134129463	0.018000	0.18449	0.019000	0.16419	0.254000	0.26022	-0.230000	0.09083	-0.377000	0.07930	0.402000	0.26972	AAA	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054774.3		-	ENST00000224140.5	Missense_Mutation	SNP	9 : 135139642 - 135139642 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1246	267
TAS2R38	5726	broad.mit.edu	37	7	141672501	141672501	+	Missense_Mutation	SNP	C	C	T	rs137902035	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141672501C>T	ENST00000547270.1	-	1	1072	c.989G>A	c.(988-990)cGg>cAg	p.R330Q		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	330					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GCACAGTGTCCGGGAATCTGC	0.478		NA											C	2	9e-04	0.0041	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	9e-04	1	LOWCOV,EXOME	NA	NA	8e-04	SNP								NA				0								C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	72	64	66		989	-1.2	0	7	dbSNP_134	66	0,8600		0,0,4300	no	missense	TAS2R38	NM_176817.4	43	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging	330/334	141672501	1,13005	2203	4300	6503	SO:0001583	missense			AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138	5726	5726		Taste receptors / Type 2, GPCR / Unclassified : Taste receptors	9584	protein-coding gene	gene with protein product		607751	phenylthiocarbamide tasting	PTC	NA	12624758, 12584440	Standard	NM_176817	NM_176817	NA	Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.989G>A	7.37:g.141672501C>T	ENSP00000448219:p.Arg330Gln	NA	P59552|Q2M3E8|Q645W3|Q86UK3	37	CCDS34765.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	11.52	1.664386	0.29604	2.27E-4	0.0	ENSG00000257138	ENST00000547270	T	0.00816	5.66	4.86	-1.25	0.09405	.	5.277620	0.00559	N	0.000275	T	0.01287	0.0042	L	0.51422	1.61	0.09310	N	1	B	0.25955	0.138	B	0.12156	0.007	T	0.47497	-0.9113	10	0.72032	D	0.01	.	4.0766	0.09908	0.1648:0.374:0.0:0.4612	.	330	P59533	T2R38_HUMAN	Q	330	ENSP00000448219:R330Q	ENSP00000331291:R330Q	R	-	2	0	TAS2R38	141318970	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	0.070000	0.14573	-0.151000	0.11176	-0.136000	0.14681	CGG	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350810.2		-	ENST00000547270.1	Missense_Mutation	SNP	7 : 141672501 - 141672501 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	402	54
KDELC1	79070	broad.mit.edu	37	13	103450919	103450919	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103450919T>C	ENST00000376004.4	-	1	438	c.102A>G	c.(100-102)atA>atG	p.I34M	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	34						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CGGGTCCCCATATTTCGCTCT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	71	72			NA	NA	13		NA											NA				103450919		2203	4300	6503	SO:0001583	missense			BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901	79070	79070			19350	protein-coding gene	gene with protein product		611613			NA		Standard		NM_024089	NA	Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.102A>G	13.37:g.103450919T>C	ENSP00000365172:p.Ile34Met	NA	Q53HL3|Q9BVD2	37	CCDS9504.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.011978	0.75046	.	.	ENSG00000134901	ENST00000376004	T	0.25250	1.81	5.32	4.14	0.48551	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.507646	0.23243	N	0.050323	T	0.28001	0.0690	L	0.36672	1.1	0.32461	N	0.544094	B	0.20780	0.048	B	0.39185	0.293	T	0.41520	-0.9504	10	0.87932	D	0	.	10.5719	0.45204	0.0:0.0763:0.0:0.9237	.	34	Q6UW63	KDEL1_HUMAN	M	34	ENSP00000365172:I34M	ENSP00000365172:I34M	I	-	3	3	KDELC1	102248920	0.995000	0.38212	1.000000	0.80357	0.999000	0.98932	0.226000	0.17776	2.141000	0.66446	0.528000	0.53228	ATA	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045699.1		-	ENST00000376004.4	Missense_Mutation	SNP	13 : 103450919 - 103450919 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	61
ZEB1	6935	broad.mit.edu	37	10	31815766	31815766	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:31815766C>T	ENST00000320985.10	+	9	3059	c.2949C>T	c.(2947-2949)taC>taT	p.Y983Y	ZEB1_ENST00000361642.5_Silent_p.Y984Y|ZEB1_ENST00000542815.3_Silent_p.Y916Y|ZEB1_ENST00000560721.2_Silent_p.Y963Y|ZEB1_ENST00000446923.2_Silent_p.Y967Y			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	983					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ATCATCGCTACTCCTACTGTA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(40;423 959 14296 36701 49589)							NA				0													102	85	91			NA	NA	10		NA											NA				31815766		2203	4300	6503	SO:0001819	synonymous_variant			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516	6935	6935		Zinc fingers, C2H2-type, Homeoboxes / ZF class	11642	protein-coding gene	gene with protein product		189909	transcription factor 8 (represses interleukin 2 expression), posterior polymorphous corneal dystrophy 3	TCF8, PPCD3	NA	1427828, 1840704, 15384081, 16252232	Standard	NM_030751	NM_001128128	NA	Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2949C>T	10.37:g.31815766C>T		NA	Q12924|Q13800|Q5T968	37	CCDS7169.1																																																																																			ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419083.2		+	ENST00000320985.10	Silent	SNP	10 : 31815766 - 31815766 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	301	64
CRYBB2	1415	broad.mit.edu	37	22	25625529	25625529	+	Missense_Mutation	SNP	C	C	T	rs2330991		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25625529C>T	ENST00000398215.2	+	5	604	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	145	Beta/gamma crystallin 'Greek key' 3.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						GTCATCTGTGCGGGTGCAGAG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	66	74			NA	NA	22		NA											NA				25625529		2203	4300	6503	SO:0001583	missense				CCDS13831.1	22q11.23	2008-06-10			ENSG00000244752	ENSG00000244752	1415	1415			2398	protein-coding gene	gene with protein product		123620		CCA2, CRYB2A, CRYB2	NA	9158139, 8224918	Standard	NM_000496	XM_006724141	NA	Approved		uc003abp.1	P43320	OTTHUMG00000150905	ENST00000398215.2:c.433C>T	22.37:g.25625529C>T	ENSP00000381273:p.Arg145Trp	NA	Q9UCM8	37	CCDS13831.1	.	.	.	.	.	.	.	.	.	.	c	16.64	3.179679	0.57800	.	.	ENSG00000244752	ENST00000398215	T	0.78595	-1.19	5.0	1.17	0.20885	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.89918	0.6854	H	0.94503	3.545	0.58432	D	0.999995	D	0.76494	0.999	D	0.71870	0.975	D	0.92011	0.5618	10	0.66056	D	0.02	.	14.3933	0.66994	0.3923:0.6077:0.0:0.0	rs2330991	145	P43320	CRBB2_HUMAN	W	145	ENSP00000381273:R145W	ENSP00000381273:R145W	R	+	1	2	CRYBB2	23955529	0.950000	0.32346	0.848000	0.33437	0.970000	0.65996	0.103000	0.15292	0.480000	0.27534	-0.188000	0.12872	CGG	CRYBB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320350.1		+	ENST00000398215.2	Missense_Mutation	SNP	22 : 25625529 - 25625529 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	207	36
APOB	338	broad.mit.edu	37	2	21236120	21236120	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21236120G>A	ENST00000233242.1	-	25	4255	c.4128C>T	c.(4126-4128)ggC>ggT	p.G1376G		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1376					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGCTGGTGTTGCCACCACTGT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													198	180	186			NA	NA	2		NA											NA				21236120		2203	4300	6503	SO:0001819	synonymous_variant			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674	338	338		Apolipoproteins	603	protein-coding gene	gene with protein product		107730	apolipoprotein B (including Ag(x) antigen)		NA		Standard		NM_000384	NA	Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.4128C>T	2.37:g.21236120G>A		NA	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	37	CCDS1703.1																																																																																			APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207571.1		-	ENST00000233242.1	Silent	SNP	2 : 21236120 - 21236120 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1126	278
ADAMTS1	9510	broad.mit.edu	37	21	28210028	28210028	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:28210028C>T	ENST00000284984.3	-	9	3228	c.2774G>A	c.(2773-2775)gGg>gAg	p.G925E		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	NA	TSP type-1 3.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GTAACCCTTCCCACAGGTCTT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	115	113			NA	NA	21		NA											NA				28210028		2203	4300	6503	SO:0001583	missense			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734	9510	9510		ADAM metallopeptidases with thrombospondin type 1 motif	217	protein-coding gene	gene with protein product		605174	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1		NA	10438512	Standard		NM_006988	NA	Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.2774G>A	21.37:g.28210028C>T	ENSP00000284984:p.Gly925Glu	NA	D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	37	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630108	0.87660	.	.	ENSG00000154734	ENST00000284984	T	0.70516	-0.49	5.52	4.62	0.57501	.	.	.	.	.	D	0.85150	0.5631	M	0.91663	3.23	0.80722	D	1	P	0.50066	0.931	P	0.60345	0.873	D	0.86873	0.2037	9	0.52906	T	0.07	.	14.8111	0.69996	0.0:0.9302:0.0:0.0698	.	925	Q9UHI8	ATS1_HUMAN	E	925	ENSP00000284984:G925E	ENSP00000284984:G925E	G	-	2	0	ADAMTS1	27131899	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.615000	0.67702	2.873000	0.98535	0.563000	0.77884	GGG	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000171650.2		-	ENST00000284984.3	Missense_Mutation	SNP	21 : 28210028 - 28210028 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	666	121
TAOK1	57551	broad.mit.edu	37	17	27816730	27816730	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27816730A>G	ENST00000261716.3	+	9	1223	c.704A>G	c.(703-705)tAt>tGt	p.Y235C	TAOK1_ENST00000536202.1_Missense_Mutation_p.Y235C	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	235	Protein kinase.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			AGTGCCTTATATCACATAGCC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	115	115			NA	NA	17		NA											NA				27816730		2203	4300	6503	SO:0001583	missense			AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551	57551	57551			29259	protein-coding gene	gene with protein product		610266			NA	10718198, 14517247	Standard	NM_020791	NM_020791	NA	Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.704A>G	17.37:g.27816730A>G	ENSP00000261716:p.Tyr235Cys	NA	A2RUT8|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	37	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.483511	0.84854	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	D;D	0.85629	-2.01;-2.01	5.59	5.59	0.84812	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90154	0.6923	L	0.51914	1.62	0.80722	D	1	D;D;D	0.89917	1.0;0.995;1.0	D;D;D	0.79784	0.993;0.931;0.992	D	0.91184	0.4978	10	0.87932	D	0	.	15.7746	0.78204	1.0:0.0:0.0:0.0	.	235;61;235	B7ZLV6;Q7L7X3-2;Q7L7X3	.;.;TAOK1_HUMAN	C	235	ENSP00000261716:Y235C;ENSP00000438819:Y235C	ENSP00000261716:Y235C	Y	+	2	0	TAOK1	24840856	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.253000	0.95501	2.118000	0.64928	0.383000	0.25322	TAT	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447790.1		+	ENST00000261716.3	Missense_Mutation	SNP	17 : 27816730 - 27816730 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	614	100
DNHD1	144132	broad.mit.edu	37	11	6592149	6592149	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6592149G>A	ENST00000527990.2	+	40	13407	c.13407G>A	c.(13405-13407)ccG>ccA	p.P4469P	DNHD1_ENST00000254579.6_Silent_p.P4469P			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4469					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCGACGCCCCGTGGTCAGTGC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	52	50			NA	NA	11		NA											NA				6592149		2078	4205	6283	SO:0001819	synonymous_variant			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532	144132	144132			26532	protein-coding gene	gene with protein product			chromosome 11 open reading frame 47, dynein heavy chain domain 1-like, coiled-coil domain containing 35	DHCD1, C11orf47, DNHD1L, CCDC35	NA	12975309	Standard	NM_144666	NM_173589	NA	Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.13407G>A	11.37:g.6592149G>A		NA	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	37	CCDS44532.1																																																																																			DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384673.2		+	ENST00000527990.2	Silent	SNP	11 : 6592149 - 6592149 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	378	72
HOXD12	3238	broad.mit.edu	37	2	176964901	176964901	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176964901C>T	ENST00000406506.2	+	1	444	c.372C>T	c.(370-372)agC>agT	p.S124S	HOXD12_ENST00000404162.2_Silent_p.S124S			P35452	HXD12_HUMAN	homeobox D12	124						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CCGAGTCTAGCCTGGCTCCTG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	20	19			NA	NA	2		NA											NA				176964901		1924	4139	6063	SO:0001819	synonymous_variant				CCDS46456.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170178	ENSG00000170178	3238	3238		Homeoboxes / ANTP class : HOXL subclass	5135	protein-coding gene	gene with protein product		142988	homeo box D12	HOX4H	NA	1675198, 1973146	Standard	NM_021193	NM_021193	NA	Approved		uc010zev.1	P35452	OTTHUMG00000150358	ENST00000406506.2:c.372C>T	2.37:g.176964901C>T		NA	B5MCP0|Q9NS03	37	CCDS46456.1																																																																																			HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359253.2		+	ENST00000406506.2	Silent	SNP	2 : 176964901 - 176964901 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	190	39
MCM3	4172	broad.mit.edu	37	6	52147572	52147572	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52147572C>A	ENST00000596288.1	-	3	441	c.414G>T	c.(412-414)aaG>aaT	p.K138N	MCM3_ENST00000419835.2_Missense_Mutation_p.K47N|MCM3_ENST00000229854.7_Missense_Mutation_p.K93N	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	93					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	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CCTCATACTGCTTGGCATAGG	0.532		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	6		NA											NA				52147572		2203	4300	6503	SO:0001583	missense			X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118	4172	4172			6945	protein-coding gene	gene with protein product		602693	minichromosome maintenance deficient (S. cerevisiae) 3, MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)		NA	1549468	Standard		NM_002388	NA	Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000596288.1:c.414G>T	6.37:g.52147572C>A	ENSP00000472940:p.Lys138Asn	NA	Q92660|Q9BTR3|Q9NUE7	37	CCDS4940.2	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555099	0.65425	.	.	ENSG00000112118	ENST00000229854;ENST00000419835	T;T	0.11821	2.74;4.17	5.59	4.73	0.59995	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.13756	0.0333	M	0.87682	2.9	0.80722	D	1	B;B	0.31989	0.35;0.224	B;B	0.34301	0.179;0.179	T	0.01440	-1.1354	10	0.42905	T	0.14	-27.4225	14.3189	0.66470	0.0:0.9287:0.0:0.0713	.	47;93	B4DUQ9;P25205	.;MCM3_HUMAN	N	93;47	ENSP00000229854:K93N;ENSP00000388647:K47N	ENSP00000229854:K93N	K	-	3	2	MCM3	52255531	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.712000	0.37940	1.366000	0.46076	0.655000	0.94253	AAG	MCM3-001	KNOWN	overlapping_uORF|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040897.3		-	ENST00000596288.1	Missense_Mutation	SNP	6 : 52147572 - 52147572 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	327	53
SYNE2	23224	broad.mit.edu	37	14	64542662	64542662	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64542662G>T	ENST00000554584.1	+	54	11016		c.e54-1		SYNE2_ENST00000357395.3_Splice_Site|SYNE2_ENST00000394768.2_5'UTR|SYNE2_ENST00000344113.4_Splice_Site|SYNE2_ENST00000358025.3_Splice_Site|SYNE2_ENST00000555002.1_Splice_Site			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	NA					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AATGCTTTTAGGAGCTTCAAA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	58	57			NA	NA	14		NA											NA				64542662		2203	4299	6502	SO:0001630	splice_region_variant			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654	23224	23224			17084	protein-coding gene	gene with protein product	nuclear envelope spectrin repeat-2, nucleus and actin connecting element	608442			NA	10231032, 10878022	Standard	NM_182914	NM_182910	NA	Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000554584.1:c.10966-1G>T	14.37:g.64542662G>T		NA	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	37		.	.	.	.	.	.	.	.	.	.	G	15.75	2.924215	0.52653	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9299	0.97115	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SYNE2	63612415	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	6.718000	0.74713	2.769000	0.95229	0.655000	0.94253	.	SYNE2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000411905.1	Intron	+	ENST00000554584.1	Splice_Site	SNP	14 : 64542662 - 64542662 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	311	14
EPHA8	2046	broad.mit.edu	37	1	22913039	22913039	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22913039G>A	ENST00000166244.3	+	4	962	c.890G>A	c.(889-891)aGc>aAc	p.S297N	EPHA8_ENST00000538803.1_Missense_Mutation_p.S297N|EPHA8_ENST00000374644.4_Missense_Mutation_p.S297N	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	297	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCTCCCCACAGCCACTCCGCA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	40	40			NA	NA	1		NA											NA				22913039		2202	4300	6502	SO:0001583	missense			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2046	2046	2.7.10.1	EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3391	protein-coding gene	gene with protein product		176945	EphA8	EEK	NA	1648701	Standard	NM_020526	NM_001006943	NA	Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.890G>A	1.37:g.22913039G>A	ENSP00000166244:p.Ser297Asn	NA	Q9NUA9|Q9P269	37	CCDS225.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939549	0.92526	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;D;D	0.97430	1.59;-4.38;-4.38	4.35	4.35	0.52113	.	0.053256	0.85682	D	0.000000	D	0.98372	0.9459	M	0.92268	3.29	0.52501	D	0.999958	P;D	0.55800	0.671;0.973	B;P	0.56612	0.107;0.802	D	0.99544	1.0964	10	0.87932	D	0	.	15.6037	0.76646	0.0:0.0:1.0:0.0	.	297;297	P29322;P29322-2	EPHA8_HUMAN;.	N	297	ENSP00000166244:S297N;ENSP00000363775:S297N;ENSP00000440274:S297N	ENSP00000166244:S297N	S	+	2	0	EPHA8	22785626	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.587000	0.98229	2.265000	0.75225	0.455000	0.32223	AGC	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000008085.1		+	ENST00000166244.3	Missense_Mutation	SNP	1 : 22913039 - 22913039 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	363	94
MICU2	221154	broad.mit.edu	37	13	22113448	22113448	+	Silent	SNP	G	G	A	rs144692655	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:22113448G>A	ENST00000382374.4	-	4	524	c.459C>T	c.(457-459)ggC>ggT	p.G153G		NM_152726.2	NP_689939.1			mitochondrial calcium uptake 2	NA											NA						TACCTTTATCGCCAAGGTCTC	0.318		NA											G	3	0.0014	0.0041	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0013	0.9839	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				0								G		48,4358	49.6+/-84.7	0,48,2155	59	59	59		459	-6.9	0.9	13	dbSNP_134	59	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	EFHA1	NM_152726.2		0,50,6453	AA,AG,GG	NA	0.0233,1.0894,0.3844		153/435	22113448	50,12956	2203	4300	6503	SO:0001819	synonymous_variant			AK091907	CCDS9297.1	13q12.11	2013-03-13	2013-03-13	2013-03-13	ENSG00000165487	ENSG00000165487	221154	221154		EF-hand domain containing	31830	protein-coding gene	gene with protein product		610632	EF hand domain family A1, EF-hand domain family, member A1	EFHA1	NA	23409044	Standard	NM_152726	NM_152726	NA	Approved		uc001uof.3	Q8IYU8	OTTHUMG00000067414	ENST00000382374.4:c.459C>T	13.37:g.22113448G>A		NA		37	CCDS9297.1																																																																																			MICU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000144355.1		-	ENST00000382374.4	Silent	SNP	13 : 22113448 - 22113448 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	274	49
KIAA1109	84162	broad.mit.edu	37	4	123130479	123130479	+	Missense_Mutation	SNP	G	G	A	rs72925924	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123130479G>A	ENST00000264501.4	+	18	2291	c.1918G>A	c.(1918-1920)Gtt>Att	p.V640I	KIAA1109_ENST00000388738.3_Missense_Mutation_p.V640I|KIAA1109_ENST00000495260.1_Intron|KIAA1109_ENST00000455637.1_Missense_Mutation_p.V640I			Q2LD37	K1109_HUMAN	KIAA1109	640					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATGGCGCAACGTTACTCAGGA	0.463		NA											G	1	5e-04	0.002	NA	2184	NA	0.9998	,	,	NA	3e-04	NA	NA	NA	5e-04	0.8415	EXOME	NA	NA	3e-04	SNP								NA				0								G	ILE/VAL	16,3870		0,16,1927	72	67	68		1918	-1.4	0.6	4	dbSNP_130	68	0,8284		0,0,4142	yes	missense	KIAA1109	NM_015312.3	29	0,16,6069	AA,AG,GG	NA	0.0,0.4117,0.1315	benign	640/5006	123130479	16,12154	1943	4142	6085	SO:0001583	missense			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688	84162	84162			26953	protein-coding gene	gene with protein product	fragile site-associated	611565			NA	16386706	Standard	NM_020797	NM_015312	NA	Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.1918G>A	4.37:g.123130479G>A	ENSP00000264501:p.Val640Ile	NA	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	37	CCDS43267.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	1.753|1.753	-0.488817|-0.488817	0.04352|0.04352	0.004117|0.004117	0.0|0.0	ENSG00000138688|ENSG00000138688	ENST00000424425|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.21543	.|2.58;2.58;2.0	4.55|4.55	-1.37|-1.37	0.09056|0.09056	.|.	.|0.432718	.|0.14967	.|N	.|0.288041	T|T	0.05914|0.05914	0.0154|0.0154	N|N	0.03324|0.03324	-0.35|-0.35	0.27008|0.27008	N|N	0.964746|0.964746	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.001;0.0	T|T	0.40175|0.40175	-0.9577|-0.9577	5|10	.|0.02654	.|T	.|1	.|.	6.2867|6.2867	0.21037|0.21037	0.44:0.1455:0.4145:0.0|0.44:0.1455:0.4145:0.0	.|.	.|640;640	.|Q2LD37-5;Q2LD37	.|.;K1109_HUMAN	H|I	472|640	.|ENSP00000264501:V640I;ENSP00000373390:V640I;ENSP00000389925:V640I	.|ENSP00000264501:V640I	R|V	+|+	2|1	0|0	KIAA1109|KIAA1109	123349929|123349929	0.997000|0.997000	0.39634|0.39634	0.623000|0.623000	0.29173|0.29173	0.986000|0.986000	0.74619|0.74619	1.381000|1.381000	0.34362|0.34362	-0.330000|-0.330000	0.08514|0.08514	-0.459000|-0.459000	0.05422|0.05422	CGT|GTT	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316415.1		+	ENST00000264501.4	Missense_Mutation	SNP	4 : 123130479 - 123130479 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	242	44
SPG7	6687	broad.mit.edu	37	16	89598955	89598955	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89598955C>T	ENST00000268704.2	+	9	1250	c.1235C>T	c.(1234-1236)gCg>gTg	p.A412V	SPG7_ENST00000341316.2_Missense_Mutation_p.A412V	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	412					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GAGATCGACGCGGTGGGCAAG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	44	44			NA	NA	16		NA											NA				89598955		2198	4300	6498	SO:0001583	missense			Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912	6687	6687		ATPases / AAA-type	11237	protein-coding gene	gene with protein product	paraplegin	602783	cell matrix adhesion regulator	CMAR	NA	9635427, 9634528	Standard	NM_003119	XM_006721264	NA	Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1235C>T	16.37:g.89598955C>T	ENSP00000268704:p.Ala412Val	NA	O75756|Q2TB70|Q58F00|Q96IB0	37	CCDS10977.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747758	0.89663	.	.	ENSG00000197912	ENST00000268704;ENST00000341316	D;D	0.94138	-3.36;-3.36	5.45	5.45	0.79879	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);Peptidase M41, FtsH (2);	0.048162	0.85682	D	0.000000	D	0.96781	0.8949	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97102	0.9798	10	0.87932	D	0	-1.6581	19.3347	0.94312	0.0:1.0:0.0:0.0	.	412;412	Q9UQ90;Q9UQ90-2	SPG7_HUMAN;.	V	412	ENSP00000268704:A412V;ENSP00000341157:A412V	ENSP00000268704:A412V	A	+	2	0	SPG7	88126456	1.000000	0.71417	0.235000	0.24058	0.352000	0.29268	7.455000	0.80726	2.571000	0.86741	0.456000	0.33151	GCG	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269921.2		+	ENST00000268704.2	Missense_Mutation	SNP	16 : 89598955 - 89598955 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	365	74
TTC40	0	broad.mit.edu	37	10	134623955	134623955	+	Missense_Mutation	SNP	G	G	A	rs143790683		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134623955G>A	ENST00000368586.5	-	57	7722	c.7622C>T	c.(7621-7623)gCg>gTg	p.A2541V	TTC40_ENST00000263170.5_Missense_Mutation_p.A702V	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN		702										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TGAAGGAGACGCACTGTTTCT	0.622		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	92	78	83		2558	2.1	0	10	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	missense	C10orf92	NM_001200049.1	64	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	possibly-damaging	853/1028	134623955	1,13005	2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000368586.5:c.7622C>T	10.37:g.134623955G>A	ENSP00000357575:p.Ala2541Val	NA	Q5JSF7|Q9NTQ5	37	CCDS58101.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.98|10.98	1.504213|1.504213	0.26949|0.26949	0.0|0.0	1.16E-4|1.16E-4	ENSG00000171811|ENSG00000171811	ENST00000368586;ENST00000263170|ENST00000435957	T;T|.	0.13778|.	2.83;2.56|.	2.98|2.98	2.07|2.07	0.26955|0.26955	.|.	2.093080|.	0.02481|.	N|.	0.088465|.	T|T	0.37348|0.37348	0.1000|0.1000	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	0.999993|0.999993	P|.	0.36660|.	0.564|.	B|.	0.25614|.	0.062|.	T|T	0.31696|0.31696	-0.9934|-0.9934	10|6	0.17832|0.87932	T|D	0.49|0	.|.	7.6152|7.6152	0.28154|0.28154	0.1276:0.0:0.8723:0.0|0.1276:0.0:0.8723:0.0	.|.	702|.	Q8IYW2|.	CJ092_HUMAN|.	V|C	2541;702|170	ENSP00000357575:A2541V;ENSP00000263170:A702V|.	ENSP00000263170:A702V|ENSP00000396731:R170C	A|R	-|-	2|1	0|0	C10orf93|C10orf93	134473945|134473945	0.198000|0.198000	0.23374|0.23374	0.001000|0.001000	0.08648|0.08648	0.005000|0.005000	0.04900|0.04900	4.651000|4.651000	0.61447|0.61447	0.843000|0.843000	0.35070|0.35070	0.591000|0.591000	0.81541|0.81541	GCG|CGT	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051095.3		-	ENST00000368586.5	Missense_Mutation	SNP	10 : 134623955 - 134623955 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	493	22
OR10A6	390093	broad.mit.edu	37	11	7950054	7950054	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7950054G>A	ENST00000309838.2	-	1	155	c.156C>T	c.(154-156)gaC>gaT	p.D52D		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGAGGCTCTGGTCTAGGGAGA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	109	111			NA	NA	11		NA											NA				7950054		2201	4296	6497	SO:0001819	synonymous_variant			AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393	390093	390093		GPCR / Class A : Olfactory receptors	15132	protein-coding gene	gene with protein product					NA		Standard	NM_001004461	NM_001004461	NA	Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.156C>T	11.37:g.7950054G>A		NA	Q6IF59	37	CCDS31420.1																																																																																			OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385703.1		-	ENST00000309838.2	Silent	SNP	11 : 7950054 - 7950054 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	703	126
LACE1	246269	broad.mit.edu	37	6	108840900	108840900	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108840900G>A	ENST00000368977.4	+	12	1390	c.1204G>A	c.(1204-1206)Gtg>Atg	p.V402M		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	402							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		TCTATTTCAGGTGCGTATAAT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	129	131			NA	NA	6		NA											NA				108840900		2203	4300	6503	SO:0001630	splice_region_variant			AF520418	CCDS5067.1	6q22.1	2006-11-10			ENSG00000135537	ENSG00000135537	246269	246269			16411	protein-coding gene	gene with protein product	ATPase family gene 1 homolog (S. cerevisiae)				NA	12079282	Standard	NM_145315	XM_005266885	NA	Approved	AFG1	uc003psj.3	Q8WV93	OTTHUMG00000015324	ENST00000368977.4:c.1204-1G>A	6.37:g.108840900G>A		NA	Q8N6A3	37	CCDS5067.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605248	0.66445	.	.	ENSG00000135537	ENST00000368977	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.89079	0.6613	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91638	0.5324	8	.	.	.	-14.8229	19.6956	0.96023	0.0:0.0:1.0:0.0	.	402	Q8WV93	LACE1_HUMAN	M	402	.	.	V	+	1	0	LACE1	108947593	1.000000	0.71417	1.000000	0.80357	0.295000	0.27426	6.440000	0.73435	2.757000	0.94681	0.561000	0.74099	GTG	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041719.4	Missense_Mutation	+	ENST00000368977.4	Splice_Site	SNP	6 : 108840900 - 108840900 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	402	63
BSN	8927	broad.mit.edu	37	3	49690192	49690192	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49690192G>A	ENST00000296452.4	+	5	3317	c.3203G>A	c.(3202-3204)cGc>cAc	p.R1068H		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1068					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CAGCGCATCCGCAGCACGGCC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	38	36			NA	NA	3		NA											NA				49690192		2203	4299	6502	SO:0001583	missense			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061	8927	8927			1117	protein-coding gene	gene with protein product	zinc finger protein 231, neuronal double zinc finger protein	604020	bassoon (presynaptic cytomatrix protein)	ZNF231	NA	9806829, 10329005	Standard	NM_003458	NM_003458	NA	Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.3203G>A	3.37:g.49690192G>A	ENSP00000296452:p.Arg1068His	NA	O43161|Q7LGH3	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536312	0.45176	.	.	ENSG00000164061	ENST00000296452	T	0.23754	1.89	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.48187	0.1486	M	0.66939	2.045	0.37678	D	0.923388	D	0.89917	1.0	D	0.68621	0.959	T	0.56613	-0.7950	10	0.66056	D	0.02	.	15.2326	0.73404	0.0:0.1407:0.8593:0.0	.	1068	Q9UPA5	BSN_HUMAN	H	1068	ENSP00000296452:R1068H	ENSP00000296452:R1068H	R	+	2	0	BSN	49665196	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	6.773000	0.75006	2.357000	0.79964	0.561000	0.74099	CGC	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258164.1		+	ENST00000296452.4	Missense_Mutation	SNP	3 : 49690192 - 49690192 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	59
ZFYVE9	9372	broad.mit.edu	37	1	52703719	52703719	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52703719G>T	ENST00000371591.1	+	3	761	c.630G>T	c.(628-630)gaG>gaT	p.E210D	ZFYVE9_ENST00000287727.3_Missense_Mutation_p.E210D|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.E210D	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	210					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TGAATTCAGAGAAACAAATGG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	67	66			NA	NA	1		NA											NA				52703719		2203	4300	6503	SO:0001583	missense			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077	9372	9372		Zinc fingers, FYVE domain containing	6775	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 173	603755	MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor	MADHIP	NA	9865696	Standard	NM_007324	NM_007324	NA	Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.630G>T	1.37:g.52703719G>T	ENSP00000360647:p.Glu210Asp	NA	Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	37	CCDS563.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604550	0.46423	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.12	3.0	0.34707	.	0.090443	0.45867	D	0.000335	T	0.46814	0.1412	N	0.24115	0.695	0.26594	N	0.973148	D;D;D	0.71674	0.996;0.994;0.998	D;D;D	0.76071	0.987;0.97;0.986	T	0.26326	-1.0106	10	0.29301	T	0.29	.	5.8444	0.18657	0.4275:0.0:0.5725:0.0	.	210;210;210	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	D	210	ENSP00000349737:E210D;ENSP00000355358:E210D;ENSP00000287727:E210D;ENSP00000360647:E210D	ENSP00000287727:E210D	E	+	3	2	ZFYVE9	52476307	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.675000	0.25232	0.558000	0.29135	0.655000	0.94253	GAG	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022083.1		+	ENST00000371591.1	Missense_Mutation	SNP	1 : 52703719 - 52703719 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	467	91
PHOX2B	8929	broad.mit.edu	37	4	41749444	41749444	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:41749444G>A	ENST00000226382.2	-	2	710	c.351C>T	c.(349-351)ttC>ttT	p.F117F		NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	117					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						GAGTCTCCGCGAAGACCCTTT	0.622		NA	Mis, F		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	familial neuroblastoma	4	4p12	8929	paired-like homeobox 2b	yes	O	0													62	67	65			NA	NA	4		NA											NA				41749444		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D82344	CCDS3463.1	4p13	2014-09-17	2003-02-10	2003-02-14	ENSG00000109132	ENSG00000109132	8929	8929		Homeoboxes / PRD class	9143	protein-coding gene	gene with protein product		603851	paired mesoderm homeobox 2b	PMX2B	NA	9039501, 10395798	Standard		NM_003924	NA	Approved	Phox2b, NBPhox	uc003gwf.4	Q99453	OTTHUMG00000099379	ENST00000226382.2:c.351C>T	4.37:g.41749444G>A		NA	Q6PJD9	37	CCDS3463.1	.	.	.	.	.	.	.	.	.	.	G	3.506	-0.100723	0.06967	.	.	ENSG00000109132	ENST00000510424	.	.	.	5.4	3.64	0.41730	.	.	.	.	.	T	0.59742	0.2216	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57423	-0.7814	4	.	.	.	.	9.8978	0.41329	0.2116:0.0:0.7884:0.0	.	.	.	.	L	57	.	.	S	-	2	0	PHOX2B	41444201	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	0.949000	0.29109	1.503000	0.48686	0.655000	0.94253	TCG	PHOX2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216832.2		-	ENST00000226382.2	Silent	SNP	4 : 41749444 - 41749444 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	484	79
SPARCL1	8404	broad.mit.edu	37	4	88414858	88414858	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88414858C>T	ENST00000503414.1	-	5	1261	c.719G>A	c.(718-720)aGc>aAc	p.S240N	SPARCL1_ENST00000282470.6_Missense_Mutation_p.S365N|SPARCL1_ENST00000418378.1_Missense_Mutation_p.S365N			Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	365					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		AAAGGCCTGGCTTGGGATGAA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	90	92			NA	NA	4		NA											NA				88414858		2203	4300	6503	SO:0001583	missense			X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583	8404	8404		EF-hand domain containing	11220	protein-coding gene	gene with protein product		606041	SPARC-like 1 (mast9, hevin)		NA	8488563, 7600298, 16844696	Standard		NM_001128310	NA	Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000503414.1:c.719G>A	4.37:g.88414858C>T	ENSP00000422903:p.Ser240Asn	NA	Q14800	37		.	.	.	.	.	.	.	.	.	.	C	19.30	3.801181	0.70567	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	D;D;D	0.90676	-2.71;-2.71;-2.71	4.32	4.32	0.51571	.	0.439796	0.25335	N	0.031403	D	0.91925	0.7443	L	0.36672	1.1	0.25029	N	0.991288	D;D	0.69078	0.997;0.997	D;D	0.75484	0.986;0.986	D	0.84802	0.0785	10	0.62326	D	0.03	-11.5295	12.6178	0.56586	0.0:1.0:0.0:0.0	.	365;365	Q8N4S1;Q14515	.;SPRL1_HUMAN	N	365;365;240;240	ENSP00000282470:S365N;ENSP00000414856:S365N;ENSP00000422903:S240N	ENSP00000282470:S365N	S	-	2	0	SPARCL1	88633882	0.993000	0.37304	1.000000	0.80357	0.727000	0.41649	0.960000	0.29253	2.689000	0.91719	0.655000	0.94253	AGC	SPARCL1-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000363611.2		-	ENST00000503414.1	Missense_Mutation	SNP	4 : 88414858 - 88414858 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	370	79
C11orf16	56673	broad.mit.edu	37	11	8950933	8950933	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8950933G>T	ENST00000326053.5	-	3	421	c.315C>A	c.(313-315)gcC>gcA	p.A105A	C11orf16_ENST00000525780.1_Silent_p.A105A|C11orf16_ENST00000528998.1_5'UTR	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	105										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		CCTCGGGAGTGGCCTTTATTT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	103	105			NA	NA	11		NA											NA				8950933		2201	4296	6497	SO:0001819	synonymous_variant			AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029	56673	56673			1169	protein-coding gene	gene with protein product					NA	11528127	Standard	NM_020643	NM_020643	NA	Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.315C>A	11.37:g.8950933G>T		NA	Q53FB2|Q8N6Y9	37	CCDS7794.1																																																																																			C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385626.1		-	ENST00000326053.5	Silent	SNP	11 : 8950933 - 8950933 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	279	27
FAT2	2196	broad.mit.edu	37	5	150925761	150925761	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150925761G>A	ENST00000261800.5	-	9	4939	c.4927C>T	c.(4927-4929)Ctg>Ttg	p.L1643L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1643	Cadherin 14.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTGTAGCCAGGTCATGCCAT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	120	121			NA	NA	5		NA											NA				150925761		2203	4300	6503	SO:0001819	synonymous_variant			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570	2196	2196		Cadherins / Cadherin-related	3596	protein-coding gene	gene with protein product	cadherin-related family member 9	604269	FAT tumor suppressor (Drosophila) homolog 2, FAT tumor suppressor homolog 2 (Drosophila)		NA	9693030	Standard	NM_001447	NM_001447	NA	Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.4927C>T	5.37:g.150925761G>A		NA	O75091|Q9NSR7	37	CCDS4317.1																																																																																			FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252434.1		-	ENST00000261800.5	Silent	SNP	5 : 150925761 - 150925761 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	337	23
TLN1	7094	broad.mit.edu	37	9	35707247	35707247	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35707247G>A	ENST00000314888.9	-	37	5130	c.4777C>T	c.(4777-4779)Cgg>Tgg	p.R1593W	TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Missense_Mutation_p.R1593W	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1593	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATGGCAGCCCGACCCTGGGGA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	45	43			NA	NA	9		NA											NA				35707247		2203	4300	6503	SO:0001583	missense			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076	7094	7094			11845	protein-coding gene	gene with protein product		186745		TLN	NA	7635475, 10610730	Standard	NM_006289	NM_006289	NA	Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.4777C>T	9.37:g.35707247G>A	ENSP00000316029:p.Arg1593Trp	NA	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	37	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227786	0.58668	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.70986	-0.51;-0.53	5.69	3.84	0.44239	.	0.248692	0.42053	N	0.000764	T	0.72867	0.3514	M	0.73217	2.22	0.46298	D	0.998973	D	0.67145	0.996	P	0.51487	0.671	T	0.72584	-0.4249	10	0.62326	D	0.03	-10.573	6.5407	0.22378	0.0692:0.1302:0.6655:0.1351	.	1593	Q9Y490	TLN1_HUMAN	W	1593	ENSP00000316029:R1593W;ENSP00000442981:R1593W	ENSP00000316029:R1593W	R	-	1	2	TLN1	35697247	0.265000	0.24102	0.998000	0.56505	0.738000	0.42128	2.769000	0.47654	0.744000	0.32741	0.561000	0.74099	CGG	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052353.2		-	ENST00000314888.9	Missense_Mutation	SNP	9 : 35707247 - 35707247 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	464	56
ENAM	10117	broad.mit.edu	37	4	71508510	71508510	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71508510G>A	ENST00000396073.3	+	9	1648	c.1367G>A	c.(1366-1368)aGc>aAc	p.S456N	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	456					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AATCCAACCAGCCCCTGGAGA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	36	35			NA	NA	4		NA											NA				71508510		2186	4297	6483	SO:0001583	missense			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464	10117	10117			3344	protein-coding gene	gene with protein product		606585	amelogenesis imperfecta 2, hypocalcification (autosomal dominant)	AIH2	NA	11978766	Standard	NM_031889	NM_031889	NA	Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.1367G>A	4.37:g.71508510G>A	ENSP00000379383:p.Ser456Asn	NA	Q17RI5|Q9H3D1	37	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	G	7.141	0.581836	0.13749	.	.	ENSG00000132464	ENST00000396073	T	0.35973	1.28	5.93	2.02	0.26589	.	0.623927	0.16087	N	0.230252	T	0.19208	0.0461	L	0.33485	1.01	0.09310	N	1	P	0.39940	0.696	B	0.35550	0.205	T	0.08351	-1.0726	10	0.25106	T	0.35	-1.0E-4	1.8656	0.03198	0.1769:0.1605:0.497:0.1656	.	456	Q9NRM1	ENAM_HUMAN	N	456	ENSP00000379383:S456N	ENSP00000379383:S456N	S	+	2	0	ENAM	71727374	0.000000	0.05858	0.235000	0.24058	0.080000	0.17528	0.331000	0.19733	0.388000	0.25054	0.655000	0.94253	AGC	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252166.3		+	ENST00000396073.3	Missense_Mutation	SNP	4 : 71508510 - 71508510 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	310	67
MAP2K1	5604	broad.mit.edu	37	15	66729129	66729129	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66729129A>C	ENST00000307102.5	+	3	868	c.337A>C	c.(337-339)Agg>Cgg	p.R113R		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	113	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|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	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						CCAGATCATAAGGGAGCTGCA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	105	114			NA	NA	15		NA											NA				66729129		2201	4299	6500	SO:0001819	synonymous_variant			L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	5604	5604	2.7.12.2	Mitogen-activated protein kinase cascade / Kinase kinases	6840	protein-coding gene	gene with protein product		176872		PRKMK1	NA	9465908, 8388392	Standard		NM_002755	NA	Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.337A>C	15.37:g.66729129A>C		NA		37	CCDS10216.1	.	.	.	.	.	.	.	.	.	.	A	11.10	1.539635	0.27563	.	.	ENSG00000169032	ENST00000425818	.	.	.	4.52	-3.33	0.04958	.	.	.	.	.	T	0.63965	0.2556	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64453	-0.6404	4	.	.	.	-26.682	14.717	0.69277	0.2366:0.7634:0.0:0.0	.	.	.	.	T	52	.	.	K	+	2	0	MAP2K1	64516183	0.932000	0.31603	0.982000	0.44146	0.993000	0.82548	0.554000	0.23407	-0.367000	0.08052	0.533000	0.62120	AAG	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256906.4		+	ENST00000307102.5	Silent	SNP	15 : 66729129 - 66729129 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	373	63
GTF2I	2969	broad.mit.edu	37	7	74114664	74114664	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:74114664C>T	ENST00000324896.4	+	5	850	c.461C>T	c.(460-462)cCg>cTg	p.P154L	AC083884.8_ENST00000594967.1_RNA|GTF2I_ENST00000353920.4_Missense_Mutation_p.P154L|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000346152.4_Missense_Mutation_p.P154L|GTF2I_ENST00000416070.1_Missense_Mutation_p.P154L|AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000443166.1_Missense_Mutation_p.P154L	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	154					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						CAGGGGCTTCCGGAAGGTGTT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	118	118			NA	NA	7		NA											NA				74114664		2203	4300	6503	SO:0001583	missense			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001	2969	2969		General transcription factors	4659	protein-coding gene	gene with protein product		601679	general transcription factor II, i	WBSCR6	NA	9334314, 9012831	Standard	NM_032999	NM_032999	NA	Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.461C>T	7.37:g.74114664C>T	ENSP00000322542:p.Pro154Leu	NA	O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q9BSZ4	37	CCDS5573.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578469	0.65878	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070;ENST00000443166	T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15	5.41	4.52	0.55395	.	0.165289	0.42294	D	0.000729	D	0.89111	0.6622	M	0.87682	2.9	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.998;1.0;1.0;1.0	D	0.90966	0.4816	10	0.87932	D	0	-11.075	14.68	0.69009	0.1461:0.8539:0.0:0.0	.	154;154;154;154;154;154	Q499G6;P78347-2;P78347-3;P78347-4;P78347;Q86U51	.;.;.;.;GTF2I_HUMAN;.	L	154;149;154;154;154;154	ENSP00000322542:P154L;ENSP00000322671:P154L;ENSP00000322599:P154L;ENSP00000387651:P154L;ENSP00000404240:P154L	ENSP00000322542:P154L	P	+	2	0	GTF2I	73752600	1.000000	0.71417	0.865000	0.33974	0.571000	0.35966	5.436000	0.66538	1.270000	0.44297	0.484000	0.47621	CCG	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252708.1		+	ENST00000324896.4	Missense_Mutation	SNP	7 : 74114664 - 74114664 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	651	156
PHLDB1	23187	broad.mit.edu	37	11	118498785	118498785	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118498785C>T	ENST00000361417.2	+	7	1657	c.1246C>T	c.(1246-1248)Cta>Tta	p.L416L	PHLDB1_ENST00000356063.5_Silent_p.L416L	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	416								p.L416V(1)		breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TGAGCGGGTGCTAACAACCAG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											72	75	74			NA	NA	11		NA											NA				118498785		2200	4295	6495	SO:0001819	synonymous_variant				CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144	23187	23187		Pleckstrin homology (PH) domain containing	23697	protein-coding gene	gene with protein product		612834			NA	14532993	Standard	NM_015157	NM_015157	NA	Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.1246C>T	11.37:g.118498785C>T		NA	B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	37	CCDS8401.1																																																																																			PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389279.1		+	ENST00000361417.2	Silent	SNP	11 : 118498785 - 118498785 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	935	179
PLEKHM3	389072	broad.mit.edu	37	2	208811193	208811193	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:208811193C>T	ENST00000457206.1	-	4	2017	c.1590G>A	c.(1588-1590)gtG>gtA	p.V530V	PLEKHM3_ENST00000389247.4_Silent_p.V530V|PLEKHM3_ENST00000427836.2_Silent_p.V530V			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	530					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGTAGTTGCACACCTTGGCTT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	152	152			NA	NA	2		NA											NA				208811193		1969	4168	6137	SO:0001819	synonymous_variant			AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385	389072	389072		Pleckstrin homology (PH) domain containing	34006	protein-coding gene	gene with protein product	differentiation associated protein		pleckstrin homology domain containing, family M, member 1-like	PLEKHM1L	NA	19028694	Standard	NM_001080475	NM_001080475	NA	Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000457206.1:c.1590G>A	2.37:g.208811193C>T		NA	B9EKV2|Q8WW68	37		.	.	.	.	.	.	.	.	.	.	C	10.15	1.269919	0.23221	.	.	ENSG00000178385	ENST00000447645	D	0.83992	-1.79	6.04	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.89653	0.6777	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.90716	0.4631	7	0.66056	D	0.02	.	16.2164	0.82224	0.0:0.7491:0.2509:0.0	.	.	.	.	M	282	ENSP00000395354:V282M	ENSP00000395354:V282M	V	-	1	0	PLEKHM3	208519438	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	0.857000	0.27831	1.528000	0.49103	0.563000	0.77884	GTG	PLEKHM3-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000337037.1		-	ENST00000457206.1	Silent	SNP	2 : 208811193 - 208811193 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	706	168
SPATA31D1	389763	broad.mit.edu	37	9	84609292	84609292	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:84609292G>A	ENST00000344803.2	+	4	3954	c.3907G>A	c.(3907-3909)Gag>Aag	p.E1303K		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1	NA											NA						CAAAGGAGGAGAGCTTGATGG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	36	35			NA	NA	9		NA											NA				84609292		1937	4145	6082	SO:0001583	missense				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929	389763	389763			37283	protein-coding gene	gene with protein product			family with sequence similarity 75, member D1	FAM75D1	NA		Standard	NM_001001670	NM_001001670	NA	Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3907G>A	9.37:g.84609292G>A	ENSP00000341988:p.Glu1303Lys	NA		37	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646090	0.47258	.	.	ENSG00000214929	ENST00000344803	T	0.09630	2.96	3.26	0.291	0.15732	.	1.212120	0.06379	N	0.714970	T	0.07818	0.0196	L	0.34521	1.04	0.09310	N	1	P	0.46142	0.873	B	0.36959	0.237	T	0.34229	-0.9837	10	0.46703	T	0.11	-4.3388	5.5373	0.17018	0.3928:0.0:0.6072:0.0	.	1303	Q6ZQQ2	F75D1_HUMAN	K	1303	ENSP00000341988:E1303K	ENSP00000341988:E1303K	E	+	1	0	FAM75D1	83799112	0.022000	0.18835	0.001000	0.08648	0.009000	0.06853	1.405000	0.34635	0.060000	0.16281	0.655000	0.94253	GAG	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402325.1		+	ENST00000344803.2	Missense_Mutation	SNP	9 : 84609292 - 84609292 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	222	39
CAMK1D	57118	broad.mit.edu	37	10	12708741	12708741	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:12708741G>T	ENST00000378847.3	+	3	568	c.231G>T	c.(229-231)aaG>aaT	p.K77N	CAMK1D_ENST00000487696.1_3'UTR|CAMK1D_ENST00000378845.1_Missense_Mutation_p.K77N	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	77	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TCAGGATTAAGCATGAAAATA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	126	128			NA	NA	10		NA											NA				12708741		2203	4300	6503	SO:0001583	missense			AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049	57118	57118			19341	protein-coding gene	gene with protein product		607957			NA	11050006	Standard	NM_020397	XM_006717481	NA	Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.231G>T	10.37:g.12708741G>T	ENSP00000368124:p.Lys77Asn	NA	B0YIY0|Q9HD31	37	CCDS7091.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.113066	0.37339	.	.	ENSG00000183049	ENST00000378847;ENST00000378845	T;T	0.38401	1.14;1.14	5.51	3.64	0.41730	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.29620	0.0739	N	0.11651	0.15	0.53688	D	0.99997	D;B	0.56035	0.974;0.002	P;B	0.58210	0.835;0.011	T	0.02144	-1.1206	10	0.39692	T	0.17	-21.3343	7.0761	0.25205	0.2351:0.0:0.7649:0.0	.	77;77	Q8IU85;Q5SQQ7	KCC1D_HUMAN;.	N	77	ENSP00000368124:K77N;ENSP00000368122:K77N	ENSP00000368122:K77N	K	+	3	2	CAMK1D	12748747	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.100000	0.41777	2.593000	0.87608	0.655000	0.94253	AAG	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046820.1		+	ENST00000378847.3	Missense_Mutation	SNP	10 : 12708741 - 12708741 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	500	89
SLC18A3	6572	broad.mit.edu	37	10	50820002	50820002	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50820002G>A	ENST00000374115.3	+	1	1656	c.1216G>A	c.(1216-1218)Gcc>Acc	p.A406T	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	406					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCCCACGCTCGCCTTCCTGGT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	42	43			NA	NA	10		NA											NA				50820002		2203	4300	6503	SO:0001583	missense			BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714	6572	6572		Solute carriers	10936	protein-coding gene	gene with protein product		600336			NA	8071310	Standard	NM_003055	NM_003055	NA	Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1216G>A	10.37:g.50820002G>A	ENSP00000363229:p.Ala406Thr	NA	B2R7S1	37	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108957	0.77096	.	.	ENSG00000187714	ENST00000374115	T	0.57907	0.37	5.11	4.2	0.49525	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.061558	0.64402	U	0.000005	T	0.73621	0.3610	M	0.84683	2.71	0.48040	D	0.999572	D	0.76494	0.999	D	0.72982	0.979	T	0.78404	-0.2217	10	0.87932	D	0	-5.4998	13.2042	0.59787	0.077:0.0:0.923:0.0	.	406	Q16572	VACHT_HUMAN	T	406	ENSP00000363229:A406T	ENSP00000363229:A406T	A	+	1	0	SLC18A3	50490008	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	9.777000	0.99008	1.153000	0.42468	0.561000	0.74099	GCC	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047995.1		+	ENST00000374115.3	Missense_Mutation	SNP	10 : 50820002 - 50820002 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	248	22
TBC1D12	23232	broad.mit.edu	37	10	96291155	96291155	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96291155G>A	ENST00000225235.4	+	12	2307	c.2197G>A	c.(2197-2199)Gaa>Aaa	p.E733K	TBC1D12_ENST00000485048.1_3'UTR	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	733						intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				TATCACATCGGAAAAGCTGTT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	86	88			NA	NA	10		NA											NA				96291155		1854	4093	5947	SO:0001583	missense			AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239	23232	23232			29082	protein-coding gene	gene with protein product					NA	9628581	Standard		NM_015188	NA	Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.2197G>A	10.37:g.96291155G>A	ENSP00000225235:p.Glu733Lys	NA	Q5VYA6|Q8WX26|Q8WX59|Q9UG83	37	CCDS41553.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426670	0.83667	.	.	ENSG00000108239	ENST00000225235	T	0.24151	1.87	5.31	5.31	0.75309	Rab-GAP/TBC domain (1);	0.166270	0.53938	D	0.000047	T	0.37919	0.1021	L	0.61218	1.895	0.53005	D	0.999969	P	0.50943	0.94	P	0.49140	0.601	T	0.14476	-1.0471	10	0.62326	D	0.03	-9.8376	16.527	0.84333	0.0:0.0:1.0:0.0	.	733	O60347	TBC12_HUMAN	K	733	ENSP00000225235:E733K	ENSP00000225235:E733K	E	+	1	0	TBC1D12	96281145	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.199000	0.51043	2.768000	0.95171	0.650000	0.86243	GAA	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049482.2		+	ENST00000225235.4	Missense_Mutation	SNP	10 : 96291155 - 96291155 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	430	96
GON4L	54856	broad.mit.edu	37	1	155746214	155746214	+	Missense_Mutation	SNP	G	G	A	rs140447805		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155746214G>A	ENST00000437809.1	-	16	2272	c.2150C>T	c.(2149-2151)cCg>cTg	p.P717L	GON4L_ENST00000361040.5_Missense_Mutation_p.P717L|GON4L_ENST00000271883.5_Missense_Mutation_p.P717L|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Missense_Mutation_p.P717L	NM_001282856.1	NP_001269785.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	717					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGTGGCCTCCGGATTGAGGTT	0.428		NA											G	1	5e-04	NA	NA	2184	0.0017	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9049	EXOME	NA	NA	4e-04	SNP								NA				0								G	LEU/PRO,LEU/PRO	0,4406		0,0,2203	139	137	138		2150,2150	3	0	1	dbSNP_134	138	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	GON4L	NM_001037533.1,NM_032292.4	98,98	0,3,6500	AA,AG,GG	NA	0.0349,0.0,0.0231	benign,benign	717/2241,717/1530	155746214	3,13003	2203	4300	6503	SO:0001583	missense			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580	54856	54856			25973	protein-coding gene	gene with protein product		610393	gon-4 homolog (C.elegans)	GON4	NA	16545939, 21454521	Standard	NM_032292	XM_005245283	NA	Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000437809.1:c.2150C>T	1.37:g.155746214G>A	ENSP00000396117:p.Pro717Leu	NA	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	37	CCDS44242.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	7.303	0.613383	0.14066	0.0	3.49E-4	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	T;T;T;T	0.11063	3.0;3.0;3.0;2.81	4.82	2.97	0.34412	.	0.400789	0.25006	N	0.033870	T	0.01800	0.0057	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.12013	0.005;0.002;0.001;0.001	B;B;B;B	0.08055	0.003;0.003;0.0;0.001	T	0.43163	-0.9408	10	0.52906	T	0.07	.	5.8545	0.18712	0.1602:0.0:0.686:0.1538	.	717;717;717;717	A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	L	717	ENSP00000396117:P717L;ENSP00000357315:P717L;ENSP00000271883:P717L;ENSP00000354322:P717L	ENSP00000271883:P717L	P	-	2	0	GON4L	154012838	0.784000	0.28713	0.006000	0.13384	0.072000	0.16883	1.749000	0.38319	0.666000	0.31087	0.586000	0.80456	CCG	GON4L-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340937.1		-	ENST00000437809.1	Missense_Mutation	SNP	1 : 155746214 - 155746214 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	376	87
MAP1S	55201	broad.mit.edu	37	19	17836832	17836832	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17836832C>T	ENST00000324096.4	+	5	790	c.639C>T	c.(637-639)taC>taT	p.Y213Y	MAP1S_ENST00000544059.2_Silent_p.Y187Y|MAP1S_ENST00000597681.1_Intron	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	213	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TCCTGGAGTACGTGGCTGAGT	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	26	26			NA	NA	19		NA											NA				17836832		2202	4299	6501	SO:0001819	synonymous_variant			BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479	55201	55201			15715	protein-coding gene	gene with protein product		607573	chromosome 19 open reading frame 5, VCY2 interacting protein 1, BPY2 interacting protein 1	C19orf5, VCY2IP1, BPY2IP1	NA	11827465, 15528209, 16297881, 14627543	Standard	NM_018174	NM_018174	NA	Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.639C>T	19.37:g.17836832C>T		NA	Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	37	CCDS32954.1																																																																																			MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466027.1		+	ENST00000324096.4	Silent	SNP	19 : 17836832 - 17836832 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	161	42
FAM110B	90362	broad.mit.edu	37	8	59059135	59059135	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:59059135C>T	ENST00000361488.3	+	5	1226	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	116						microtubule organizing center|mitochondrion|nucleus		p.L116M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GAGGGAGAACCTGAAGCTGGA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											37	38	37			NA	NA	8		NA											NA				59059135		2203	4300	6503	SO:0001819	synonymous_variant			U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122	90362	90362			28587	protein-coding gene	gene with protein product		611394	chromosome 8 open reading frame 72	C8orf72	NA	8619474, 9110174, 17499476	Standard	NM_147189	XM_005251324	NA	Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.346C>T	8.37:g.59059135C>T		NA	Q5BM08|Q9Y4K2	37	CCDS6170.1																																																																																			FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378095.2		+	ENST00000361488.3	Silent	SNP	8 : 59059135 - 59059135 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	229	37
ZNF699	374879	broad.mit.edu	37	19	9408561	9408561	+	Missense_Mutation	SNP	C	C	T	rs140037536	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9408561C>T	ENST00000591998.1	-	4	509	c.281G>A	c.(280-282)cGg>cAg	p.R94Q	ZNF699_ENST00000308650.3_Missense_Mutation_p.R94Q			Q32M78	ZN699_HUMAN	zinc finger protein 699	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTTGCCTTCCCGGTGCTCTCC	0.443		NA											c	11	0.01	0.02	NA	2184	NA	0.9998	,	,	NA	3e-04	NA	NA	NA	0.0051	0.9855	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				0								C	GLN/ARG	50,3652		1,48,1802	105	101	102		281	1.3	0.6	19	dbSNP_134	102	1,8181		0,1,4090	yes	missense	ZNF699	NM_198535.1	43	1,49,5892	TT,TC,CC	NA	0.0122,1.3506,0.4291	benign	94/643	9408561	51,11833	1851	4091	5942	SO:0001583	missense			BC109268	CCDS42495.1	19p13.2	2013-01-08				ENSG00000196110	374879	374879		Zinc fingers, C2H2-type, -	24750	protein-coding gene	gene with protein product	hangover homolog (Drosophila)	609571			NA	16940975	Standard	NM_198535	NM_198535	NA	Approved	FLJ38144, hang	uc002mlc.1	Q32M78		ENST00000591998.1:c.281G>A	19.37:g.9408561C>T	ENSP00000467723:p.Arg94Gln	NA	Q8N9A1	37	CCDS42495.1	11	0.005036630036630037	11	0.022357723577235773	0	0.0	0	0.0	0	0.0	c	3.095	-0.185964	0.06340	0.013506	1.22E-4	ENSG00000196110	ENST00000308650	T	0.07021	3.23	3.47	1.34	0.21922	.	.	.	.	.	T	0.01189	0.0039	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46610	-0.9179	9	0.21014	T	0.42	.	3.0093	0.06039	0.2105:0.1181:0.0:0.6714	.	94	Q32M78	ZN699_HUMAN	Q	94	ENSP00000311596:R94Q	ENSP00000311596:R94Q	R	-	2	0	ZNF699	9269561	0.018000	0.18449	0.609000	0.28983	0.041000	0.13682	0.508000	0.22692	0.197000	0.20387	-1.300000	0.01332	CGG	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449010.1		-	ENST00000591998.1	Missense_Mutation	SNP	19 : 9408561 - 9408561 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	403	62
TPCN2	219931	broad.mit.edu	37	11	68821505	68821505	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68821505C>T	ENST00000294309.3	+	2	215	c.114C>T	c.(112-114)gcC>gcT	p.A38A	TPCN2_ENST00000542467.1_Silent_p.A38A	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	38					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTGCAGGTGCCGCGGCCAGGT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	72	82			NA	NA	11		NA											NA				68821505		2200	4294	6494	SO:0001819	synonymous_variant			AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341	219931	219931		Voltage-gated ion channels / Two-pore channels	20820	protein-coding gene	gene with protein product		612163			NA	16382101	Standard	NM_139075	NM_139075	NA	Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.114C>T	11.37:g.68821505C>T		NA	Q9NT82	37	CCDS8189.1																																																																																			TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396878.2		+	ENST00000294309.3	Silent	SNP	11 : 68821505 - 68821505 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	224	37
LIPA	3988	broad.mit.edu	37	10	91007366	91007366	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91007366G>T	ENST00000336233.5	-	2	362	c.40C>A	c.(40-42)Ctc>Atc	p.L14I	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000456827.1_Missense_Mutation_p.L14I			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	14					lipid catabolic process	lysosome	lipase activity|sterol esterase activity			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		AGGGTCCAGAGAACCAAACAG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	107	108			NA	NA	10		NA											NA				91007366		2203	4300	6503	SO:0001583	missense			M74775	CCDS7401.1, CCDS73160.1	10q23.2-q23.3	2012-07-13	2008-08-01		ENSG00000107798	ENSG00000107798	3988	3988	3.1.1.13		6617	protein-coding gene	gene with protein product	Wolman disease	613497			NA	8432549	Standard	NM_000235	NM_000235	NA	Approved	LAL, CESD	uc009xtq.3	P38571	OTTHUMG00000018716	ENST00000336233.5:c.40C>A	10.37:g.91007366G>T	ENSP00000337354:p.Leu14Ile	NA	B2RBH5|D3DR29|Q16529|Q53H21|Q5T074|Q5T771|Q96EJ0	37	CCDS7401.1	.	.	.	.	.	.	.	.	.	.	G	8.222	0.802607	0.16397	.	.	ENSG00000107798	ENST00000336233;ENST00000371829;ENST00000541980;ENST00000456827;ENST00000542307;ENST00000428800;ENST00000282673	T;T;T;T	0.77098	-0.46;-0.46;-0.34;-1.07	4.93	3.04	0.35103	.	.	.	.	.	T	0.56093	0.1962	N	0.08118	0	0.20703	N	0.999861	B	0.11235	0.004	B	0.15484	0.013	T	0.41124	-0.9526	9	0.21540	T	0.41	-4.6998	8.0945	0.30820	0.0:0.1734:0.6466:0.18	.	14	P38571	LICH_HUMAN	I	14	ENSP00000337354:L14I;ENSP00000413019:L14I;ENSP00000388415:L14I;ENSP00000282673:L14I	ENSP00000282673:L14I	L	-	1	0	LIPA	90997346	0.932000	0.31603	0.980000	0.43619	0.314000	0.28054	1.957000	0.40392	0.777000	0.33496	0.555000	0.69702	CTC	LIPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049308.1		-	ENST00000336233.5	Missense_Mutation	SNP	10 : 91007366 - 91007366 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	202	37
ZBTB40	9923	broad.mit.edu	37	1	22832722	22832722	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22832722C>T	ENST00000375647.4	+	6	1555	c.1348C>T	c.(1348-1350)Cca>Tca	p.P450S	ZBTB40_ENST00000374651.4_Missense_Mutation_p.P338S|ZBTB40_ENST00000404138.1_Missense_Mutation_p.P450S	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	450					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AGCCACTTTGCCAAGCACCAC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	65	62			NA	NA	1		NA											NA				22832722		2203	4300	6503	SO:0001583	missense			AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677	9923	9923		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	29045	protein-coding gene	gene with protein product		612106			NA		Standard	NM_014870	NM_014870	NA	Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.1348C>T	1.37:g.22832722C>T	ENSP00000364798:p.Pro450Ser	NA	O75066|Q5TFU5|Q8N1R1	37	CCDS224.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837604	0.32513	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000400239;ENST00000374651	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	6.06	4.18	0.49190	.	0.114274	0.39615	N	0.001303	T	0.60077	0.2241	L	0.32530	0.975	0.20307	N	0.999912	B;B	0.32653	0.17;0.379	B;B	0.28139	0.082;0.086	T	0.54669	-0.8259	10	0.54805	T	0.06	-8.6573	8.3286	0.32173	0.0:0.7265:0.1308:0.1427	.	338;450	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	S	450;450;450;338	ENSP00000384527:P450S;ENSP00000364798:P450S;ENSP00000383098:P450S;ENSP00000363782:P338S	ENSP00000363782:P338S	P	+	1	0	ZBTB40	22705309	0.799000	0.28903	0.153000	0.22517	0.711000	0.40976	1.179000	0.31993	0.875000	0.35847	0.655000	0.94253	CCA	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000008094.1		+	ENST00000375647.4	Missense_Mutation	SNP	1 : 22832722 - 22832722 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	31
GTF3A	2971	broad.mit.edu	37	13	28009581	28009581	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28009581T>C	ENST00000381140.4	+	9	1139	c.945T>C	c.(943-945)tcT>tcC	p.S315S	GTF3A_ENST00000470606.1_3'UTR	NM_002097.2	NP_002088	Q92664	TF3A_HUMAN	general transcription factor IIIA	315					regulation of transcription, DNA-dependent|rRNA transcription|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|lung(1)	2		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.11)|OV - Ovarian serous cystadenocarcinoma(117;0.158)		TCAAAAAATCTCGTGAAAAAC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	61	64			NA	NA	13		NA											NA				28009581		1568	3582	5150	SO:0001819	synonymous_variant				CCDS45019.1	13q12.3-q13.1	2013-01-08			ENSG00000122034	ENSG00000122034	2971	2971		General transcription factors, Zinc fingers, C2H2-type	4662	protein-coding gene	gene with protein product		600860			NA	7789179	Standard	NM_002097	NM_002097	NA	Approved	TFIIIA, AP2	uc001ure.2	Q92664	OTTHUMG00000016632	ENST00000381140.4:c.945T>C	13.37:g.28009581T>C		NA	B7ZBK5|Q12963|Q13097	37	CCDS45019.1																																																																																			GTF3A-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044281.2		+	ENST00000381140.4	Silent	SNP	13 : 28009581 - 28009581 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	96	17
DNAH9	1770	broad.mit.edu	37	17	11687764	11687764	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11687764G>A	ENST00000454412.2	+	41	7969	c.7969G>A	c.(7969-7971)Gcc>Acc	p.A2657T	DNAH9_ENST00000262442.4_Missense_Mutation_p.A2657T			Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2657	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCTGGCCCTCGCCTTCCACCA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	162	166			NA	NA	17		NA											NA				11687764		2203	4300	6503	SO:0001583	missense			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174	1770	1770		Axonemal dyneins	2953	protein-coding gene	gene with protein product		603330	dynein, axonemal, heavy polypeptide 17-like, dynein, axonemal, heavy polypeptide 9	DNAH17L	NA	8812413, 11247663	Standard	NM_001372	NM_001372	NA	Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000454412.2:c.7969G>A	17.37:g.11687764G>A	ENSP00000414874:p.Ala2657Thr	NA	O15064|O95494|Q9NQ28	37		.	.	.	.	.	.	.	.	.	.	G	9.311	1.055534	0.19907	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.41758	0.99;0.99	5.56	0.599	0.17519	.	0.197317	0.45126	N	0.000395	T	0.24736	0.0600	L	0.38838	1.175	0.80722	D	1	B	0.06786	0.001	B	0.13407	0.009	T	0.04961	-1.0915	10	0.19590	T	0.45	.	3.973	0.09462	0.4292:0.0:0.4033:0.1676	.	2657	Q9NYC9	DYH9_HUMAN	T	2657;2657;1239	ENSP00000262442:A2657T;ENSP00000414874:A2657T	ENSP00000262442:A2657T	A	+	1	0	DNAH9	11628489	0.041000	0.20044	0.972000	0.41901	0.532000	0.34746	1.208000	0.32345	0.313000	0.23062	-1.552000	0.00895	GCC	DNAH9-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000252758.4		+	ENST00000454412.2	Missense_Mutation	SNP	17 : 11687764 - 11687764 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	946	154
DGKI	9162	broad.mit.edu	37	7	137308289	137308289	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137308289T>G	ENST00000424189.2	-	7	1045	c.816A>C	c.(814-816)caA>caC	p.Q272H	DGKI_ENST00000446122.1_Missense_Mutation_p.Q272H|DGKI_ENST00000288490.5_Missense_Mutation_p.Q272H|DGKI_ENST00000453654.2_5'UTR			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	272					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						AGGAGAACTTTTGCTGGAAGC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	166	168			NA	NA	7		NA											NA				137308289		2203	4300	6503	SO:0001583	missense			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680	9162	9162		Ankyrin repeat domain containing	2855	protein-coding gene	gene with protein product		604072			NA	9830018	Standard	NM_004717	NM_004717	NA	Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000424189.2:c.816A>C	7.37:g.137308289T>G	ENSP00000396078:p.Gln272His	NA	A4D1Q9|Q9NZ49	37		.	.	.	.	.	.	.	.	.	.	T	19.55	3.848968	0.71603	.	.	ENSG00000157680	ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T	0.36520	1.25;1.44	5.76	-1.13	0.09775	Protein kinase C-like, phorbol ester/diacylglycerol binding (2);	0.000000	0.85682	D	0.000000	T	0.42921	0.1224	L	0.49640	1.575	0.54753	D	0.999988	P	0.45078	0.85	P	0.55391	0.775	T	0.23440	-1.0188	10	0.33141	T	0.24	.	12.5935	0.56454	0.0:0.6635:0.0:0.3365	.	272	O75912	DGKI_HUMAN	H	220;272;272;272	ENSP00000288490:Q272H;ENSP00000399131:Q272H	ENSP00000288490:Q272H	Q	-	3	2	DGKI	136958829	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	0.934000	0.28910	-0.128000	0.11641	0.533000	0.62120	CAA	DGKI-014	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000341540.2		-	ENST00000424189.2	Missense_Mutation	SNP	7 : 137308289 - 137308289 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	700	128
PCSK1	5122	broad.mit.edu	37	5	95746599	95746599	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95746599C>A	ENST00000311106.3	-	8	1211	c.974G>T	c.(973-975)aGc>aTc	p.S325I	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_Intron|PCSK1_ENST00000508626.1_Missense_Mutation_p.S278I	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	325	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGTGTAGATGCTGTCTGTGTA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													252	219	230			NA	NA	5		NA											NA				95746599		2203	4300	6503	SO:0001583	missense				CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426	5122	5122			8743	protein-coding gene	gene with protein product	prohormone convertase 3, prohormone convertase 1, neuroendocrine convertase 1, proprotein convertase 1	162150		NEC1	NA	1765368	Standard	NM_000439	NM_000439	NA	Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.974G>T	5.37:g.95746599C>A	ENSP00000308024:p.Ser325Ile	NA	P78478|Q92532	37	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977431	0.92982	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	D;D	0.89485	-2.52;-2.52	5.53	5.53	0.82687	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.96460	0.8845	H	0.95224	3.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97406	0.9999	10	0.87932	D	0	-20.7793	19.0469	0.93025	0.0:1.0:0.0:0.0	.	325	P29120	NEC1_HUMAN	I	325;278	ENSP00000308024:S325I;ENSP00000421600:S278I	ENSP00000308024:S325I	S	-	2	0	PCSK1	95772355	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.584000	0.87258	0.585000	0.79938	AGC	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000242851.1		-	ENST00000311106.3	Missense_Mutation	SNP	5 : 95746599 - 95746599 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1216	190
CKMT2	1160	broad.mit.edu	37	5	80562074	80562074	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80562074G>T	ENST00000424301.2	+	11	1495	c.1257G>T	c.(1255-1257)aaG>aaT	p.K419N	CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.K419N|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.K419N|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000503483.2_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	419					creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	TTGGCAAAAAGTAAACTTTCC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	130	129			NA	NA	5		NA											NA				80562074		2203	4300	6503	SO:0001583	missense				CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	1160	1160	2.7.3.2		1996	protein-coding gene	gene with protein product		123295			NA	2324105	Standard	NM_001825	NM_001825	NA	Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.1257G>T	5.37:g.80562074G>T	ENSP00000404203:p.Lys419Asn	NA	Q6ICS8|Q8N1E1	37	CCDS4053.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.673184	0.29693	.	.	ENSG00000131730	ENST00000254035;ENST00000437669;ENST00000424301	T;T;T	0.25085	1.82;1.82;1.82	5.52	5.52	0.82312	.	0.075433	0.56097	D	0.000029	T	0.16171	0.0389	N	0.19112	0.55	0.38709	D	0.953176	B	0.24258	0.1	B	0.15484	0.013	T	0.05484	-1.0882	10	0.72032	D	0.01	-16.8663	9.233	0.37448	0.0825:0.1483:0.7692:0.0	.	419	P17540	KCRS_HUMAN	N	419	ENSP00000254035:K419N;ENSP00000410289:K419N;ENSP00000404203:K419N	ENSP00000254035:K419N	K	+	3	2	CKMT2	80597830	1.000000	0.71417	0.997000	0.53966	0.381000	0.30169	1.038000	0.30254	2.762000	0.94881	0.650000	0.86243	AAG	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369600.1		+	ENST00000424301.2	Missense_Mutation	SNP	5 : 80562074 - 80562074 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	612	103
ABHD6	57406	broad.mit.edu	37	3	58260429	58260429	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58260429G>T	ENST00000478253.1	+	7	1069	c.568G>T	c.(568-570)Gaa>Taa	p.E190*	ABHD6_ENST00000295962.4_Nonsense_Mutation_p.E190*			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	190						integral to membrane	acylglycerol lipase activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		ACGGCTCAAAGAACTGCAGGG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	93	93			NA	NA	3		NA											NA				58260429		2203	4300	6503	SO:0001587	stop_gained			AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686	57406	57406		Abhydrolase domain containing	21398	protein-coding gene	gene with protein product					NA		Standard	NM_020676	NM_020676	NA	Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.568G>T	3.37:g.58260429G>T	ENSP00000420315:p.Glu190*	NA	B2R7Y9|Q6ZMF7	37	CCDS2887.1	.	.	.	.	.	.	.	.	.	.	G	39	7.357571	0.98235	.	.	ENSG00000163686	ENST00000478253;ENST00000295962;ENST00000511761;ENST00000463756	.	.	.	5.88	4.99	0.66335	.	0.228966	0.44285	D	0.000479	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-11.5841	15.9067	0.79436	0.0:0.0:0.8635:0.1365	.	.	.	.	X	190	.	ENSP00000295962:E190X	E	+	1	0	ABHD6	58235469	1.000000	0.71417	0.978000	0.43139	0.928000	0.56348	8.955000	0.93058	1.444000	0.47605	0.655000	0.94253	GAA	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353511.1		+	ENST00000478253.1	Nonsense_Mutation	SNP	3 : 58260429 - 58260429 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	469	76
MACROD2	140733	broad.mit.edu	37	20	15948254	15948254	+	Missense_Mutation	SNP	C	C	T	rs150223084		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:15948254C>T	ENST00000217246.4	+	13	1359	c.964C>T	c.(964-966)Cgt>Tgt	p.R322C	MACROD2_ENST00000402914.1_Missense_Mutation_p.R87C|MACROD2_ENST00000378058.3_Missense_Mutation_p.R87C|MACROD2_ENST00000310348.4_Missense_Mutation_p.R322C	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	322	Glu-rich.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TCATTCTGTGCGTGACCAAGA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	134	135	135		259,964	0.3	0.2	20	dbSNP_134	135	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MACROD2	NM_001033087.1,NM_080676.5	180,180	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign,benign	87/214,322/426	15948254	1,13005	2203	4300	6503	SO:0001583	missense			BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264	140733	140733			16126	protein-coding gene	gene with protein product		611567	chromosome 20 open reading frame 133	C20orf133	NA		Standard	NM_080676	NM_080676	NA	Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000217246.4:c.964C>T	20.37:g.15948254C>T	ENSP00000217246:p.Arg322Cys	NA	A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	37	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.487179	0.00161	0.0	1.16E-4	ENSG00000172264	ENST00000217246;ENST00000310348;ENST00000402914;ENST00000378058	T;T;T;T	0.42513	2.61;2.6;0.97;0.97	5.33	0.335	0.15953	.	0.644521	0.14708	N	0.303106	T	0.09642	0.0237	N	0.00210	-1.845	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31052	-0.9957	10	0.44086	T	0.13	0.0	4.992	0.14218	0.0:0.2541:0.1503:0.5956	.	322;322	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	C	322;322;87;87	ENSP00000217246:R322C;ENSP00000309809:R322C;ENSP00000385290:R87C;ENSP00000367297:R87C	ENSP00000217246:R322C	R	+	1	0	MACROD2	15896254	0.005000	0.15991	0.187000	0.23214	0.074000	0.17049	-0.242000	0.08928	0.411000	0.25702	-0.294000	0.09567	CGT	MACROD2-010	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195553.3		+	ENST00000217246.4	Missense_Mutation	SNP	20 : 15948254 - 15948254 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	598	89
CNTNAP4	85445	broad.mit.edu	37	16	76483753	76483753	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:76483753A>T	ENST00000476707.1	+	6	1217	c.1078A>T	c.(1078-1080)Atg>Ttg	p.M360L	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Intron|CNTNAP4_ENST00000377504.4_Intron|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.M356L			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	357	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GATCATTGCTATGGTGAGAGT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	40	41			NA	NA	16		NA											NA				76483753		2198	4300	6498	SO:0001583	missense			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910	85445	85445			18747	protein-coding gene	gene with protein product		610518			NA	12093160	Standard	NM_033401	NM_033401	NA	Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1078A>T	16.37:g.76483753A>T	ENSP00000417628:p.Met360Leu	NA		37		.	.	.	.	.	.	.	.	.	.	A	11.39	1.625272	0.28889	.	.	ENSG00000152910	ENST00000307431;ENST00000476707	T;T	0.77877	-1.13;-1.13	5.43	3.1	0.35709	Laminin G domain (1);	0.267039	0.26442	N	0.024349	T	0.56746	0.2006	.	.	.	0.26725	N	0.970691	B;B;B	0.16396	0.008;0.004;0.017	B;B;B	0.19391	0.012;0.017;0.025	T	0.34428	-0.9829	9	0.19590	T	0.45	.	1.6134	0.02698	0.5569:0.1547:0.1396:0.1489	.	360;332;357	E9PDN6;Q96M80;Q9C0A0	.;.;CNTP4_HUMAN	L	356;360	ENSP00000306893:M356L;ENSP00000417628:M360L	ENSP00000306893:M356L	M	+	1	0	CNTNAP4	75041254	0.032000	0.19561	0.033000	0.17914	0.088000	0.18126	1.286000	0.33273	0.447000	0.26695	-0.336000	0.08194	ATG	CNTNAP4-005	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000348216.1		+	ENST00000476707.1	Missense_Mutation	SNP	16 : 76483753 - 76483753 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	88	9
KALRN	8997	broad.mit.edu	37	3	124281736	124281736	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124281736C>T	ENST00000393496.1	+	2	259	c.95C>T	c.(94-96)gCg>gTg	p.A32V	KALRN_ENST00000360013.3_Missense_Mutation_p.A1659V			O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1659					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GACTTCAGTGCGGGCCACAGC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	30	29			NA	NA	3		NA											NA				124281736		2035	4210	6245	SO:0001583	missense			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145	8997	8997		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	4814	protein-coding gene	gene with protein product	serine/threonine kinase with Dbl and pleckstrin homology domains	604605	huntingtin-associated protein interacting protein (duo)	HAPIP	NA	9285789, 10023074	Standard	NM_003947	NM_001024660	NA	Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000393496.1:c.95C>T	3.37:g.124281736C>T	ENSP00000377134:p.Ala32Val	NA	A8MSI4|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.48|17.48	3.399885|3.399885	0.62177|0.62177	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000360013;ENST00000393496|ENST00000354186	T;T|.	0.73047|.	-0.71;0.29|.	4.84|4.84	3.95|3.95	0.45737|0.45737	Src homology-3 domain (3);|.	0.316165|.	0.28317|.	N|.	0.015790|.	T|T	0.70395|0.70395	0.3219|0.3219	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.969|.	D;B|.	0.66716|.	0.946;0.413|.	T|T	0.70396|0.70396	-0.4883|-0.4883	10|5	0.87932|.	D|.	0|.	.|.	15.1527|15.1527	0.72713|0.72713	0.0:0.8582:0.1418:0.0|0.0:0.8582:0.1418:0.0	.|.	32;1659|.	O60229-5;O60229|.	.;KALRN_HUMAN|.	V|W	1659;32|1628	ENSP00000353109:A1659V;ENSP00000377134:A32V|.	ENSP00000353109:A1659V|.	A|R	+|+	2|1	0|2	KALRN|KALRN	125764426|125764426	1.000000|1.000000	0.71417|0.71417	0.040000|0.040000	0.18447|0.18447	0.212000|0.212000	0.24457|0.24457	7.606000|7.606000	0.82863|0.82863	1.236000|1.236000	0.43740|0.43740	0.563000|0.563000	0.77884|0.77884	GCG|CGG	KALRN-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000258840.2		+	ENST00000393496.1	Missense_Mutation	SNP	3 : 124281736 - 124281736 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	189	36
AFF1	4299	broad.mit.edu	37	4	87968170	87968170	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:87968170G>A	ENST00000307808.6	+	3	882	c.462G>A	c.(460-462)ccG>ccA	p.P154P	AFF1_ENST00000395146.4_Silent_p.P161P|AFF1_ENST00000544085.1_Intron	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	154						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GCGGCCCACCGGACAGCCAGC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	76	77			NA	NA	4		NA											NA				87968170		2203	4300	6503	SO:0001819	synonymous_variant			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493	4299	4299			7135	protein-coding gene	gene with protein product		159557	myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2, pre-B-cell monocytic leukemia partner 1	PBM1, MLLT2	NA	7689231, 1423625, 8353274	Standard	NM_005935	NM_005935	NA	Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.462G>A	4.37:g.87968170G>A		NA		37	CCDS3616.1																																																																																			AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253053.3		+	ENST00000307808.6	Silent	SNP	4 : 87968170 - 87968170 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	457	37
SH3GL3	6457	broad.mit.edu	37	15	84237341	84237341	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:84237341C>T	ENST00000324537.5	+	7	764	c.272C>T	c.(271-273)aCc>aTc	p.T91I	SH3GL3_ENST00000535412.1_Missense_Mutation_p.T83I|SH3GL3_ENST00000427482.2_Missense_Mutation_p.T83I|SH3GL3_ENST00000434347.1_Missense_Mutation_p.T91I			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	83	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						CAGGTGAAGACCACAGGATAC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	86	86			NA	NA	15		NA											NA				84237341		2203	4300	6503	SO:0001583	missense			AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600	6457	6457			10832	protein-coding gene	gene with protein product		603362			NA	9169142	Standard	NM_003027	NR_026799	NA	Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000324537.5:c.272C>T	15.37:g.84237341C>T	ENSP00000320092:p.Thr91Ile	NA	O43553|O43554	37		.	.	.	.	.	.	.	.	.	.	C	12.27	1.888960	0.33348	.	.	ENSG00000140600	ENST00000427482;ENST00000535412;ENST00000324537;ENST00000434347	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	4.86	2.82	0.32997	BAR (3);	0.420176	0.25997	N	0.026979	T	0.28928	0.0718	L	0.57536	1.79	0.38708	D	0.953143	B;B;B	0.28820	0.224;0.054;0.076	B;B;B	0.28305	0.088;0.064;0.084	T	0.18903	-1.0322	10	0.38643	T	0.18	-25.1471	11.2328	0.48923	0.1415:0.7217:0.1368:0.0	.	83;83;91	Q8IVP1;Q99963;Q99963-3	.;SH3G3_HUMAN;.	I	83;83;91;91	ENSP00000391372:T83I;ENSP00000439239:T83I;ENSP00000320092:T91I;ENSP00000397871:T91I	ENSP00000320092:T91I	T	+	2	0	SH3GL3	82028345	0.427000	0.25514	0.844000	0.33320	0.876000	0.50452	0.547000	0.23299	1.148000	0.42385	0.544000	0.68410	ACC	SH3GL3-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000304005.2		+	ENST00000324537.5	Missense_Mutation	SNP	15 : 84237341 - 84237341 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	473	68
TBR1	10716	broad.mit.edu	37	2	162273024	162273024	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162273024C>T	ENST00000389554.3	+	1	420	c.103C>T	c.(103-105)Cac>Tac	p.H35Y		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	35						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GCTTGTCTTGCACGATCATCC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	69	69			NA	NA	2		NA											NA				162273024		2203	4300	6503	SO:0001583	missense			U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535	10716	10716		T-boxes	11590	protein-coding gene	gene with protein product		604616			NA	7619531	Standard	NM_006593	NM_006593	NA	Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.103C>T	2.37:g.162273024C>T	ENSP00000374205:p.His35Tyr	NA	Q14DC5|Q53TH0	37	CCDS33310.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.518173	0.27211	.	.	ENSG00000136535	ENST00000389554	D	0.86497	-2.13	5.15	5.15	0.70609	.	0.346719	0.30446	N	0.009620	T	0.79528	0.4461	L	0.29908	0.895	0.80722	D	1	P	0.35745	0.518	B	0.23150	0.044	T	0.81409	-0.0946	10	0.59425	D	0.04	.	17.7843	0.88533	0.0:1.0:0.0:0.0	.	35	Q16650	TBR1_HUMAN	Y	35	ENSP00000374205:H35Y	ENSP00000374205:H35Y	H	+	1	0	TBR1	161981270	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.558000	0.60789	2.688000	0.91661	0.655000	0.94253	CAC	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000332845.1		+	ENST00000389554.3	Missense_Mutation	SNP	2 : 162273024 - 162273024 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	68
KDM6B	23135	broad.mit.edu	37	17	7754506	7754506	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7754506G>A	ENST00000254846.5	+	14	4230	c.3841G>A	c.(3841-3843)Gca>Aca	p.A1281T	KDM6B_ENST00000448097.2_Missense_Mutation_p.A1281T	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1281					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TGCCAAGTACGCACAGTACCA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	105	112			NA	NA	17		NA											NA				7754506		2203	4300	6503	SO:0001583	missense			AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510	23135	23135		Chromatin-modifying enzymes / K-demethylases	29012	protein-coding gene	gene with protein product		611577	jumonji domain containing 3, jumonji domain containing 3, histone lysine demethylase	JMJD3	NA	10662545, 9205841	Standard	XM_043272	NM_001080424	NA	Approved	KIAA0346	uc002giw.1	O15054		ENST00000254846.5:c.3841G>A	17.37:g.7754506G>A	ENSP00000254846:p.Ala1281Thr	NA	C9IZ40|Q96G33	37	CCDS32552.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928187	0.73327	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.79845	-1.31;-1.31	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.90926	0.7148	M	0.87617	2.895	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.988;0.998	D	0.92249	0.5807	10	0.87932	D	0	-8.676	17.333	0.87271	0.0:0.0:1.0:0.0	.	1281;1281	O15054;O15054-1	KDM6B_HUMAN;.	T	1281	ENSP00000254846:A1281T;ENSP00000412513:A1281T	ENSP00000254846:A1281T	A	+	1	0	KDM6B	7695231	1.000000	0.71417	0.936000	0.37596	0.871000	0.50021	6.254000	0.72460	2.718000	0.92993	0.650000	0.86243	GCA	KDM6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000440247.1		+	ENST00000254846.5	Missense_Mutation	SNP	17 : 7754506 - 7754506 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	516	38
OR10C1	442194	broad.mit.edu	37	6	29408013	29408013	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29408013C>T	ENST00000444197.2	+	1	931	c.221C>T	c.(220-222)tCt>tTt	p.S74F	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGCTATACGTCTGTCACGGTC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	147	154			NA	NA	6		NA											NA				29408013		1511	2709	4220	SO:0001583	missense				CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474	442194	442194		GPCR / Class A : Olfactory receptors	8165	protein-coding gene	gene with protein product			olfactory receptor, family 10, subfamily C, member 2, olfactory receptor, family 10, subfamily C, member 1	OR10C2	NA		Standard		NM_013941	NA	Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.221C>T	6.37:g.29408013C>T	ENSP00000419119:p.Ser74Phe	NA	Q5SUN7|Q96R18	37	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	C	7.802	0.713759	0.15306	.	.	ENSG00000206474	ENST00000444197	T	0.03181	4.02	3.48	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36740	N	0.002426	T	0.03011	0.0089	M	0.83223	2.63	0.09310	N	1	B	0.22003	0.063	B	0.28305	0.088	T	0.17440	-1.0369	10	0.49607	T	0.09	.	9.1445	0.36923	0.0:0.8952:0.0:0.1048	.	74	Q96KK4	O10C1_HUMAN	F	74	ENSP00000419119:S74F	ENSP00000419119:S74F	S	+	2	0	OR10C1	29515992	0.017000	0.18338	0.026000	0.17262	0.008000	0.06430	2.401000	0.44513	1.946000	0.56461	0.430000	0.28490	TCT	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076415.2		+	ENST00000444197.2	Missense_Mutation	SNP	6 : 29408013 - 29408013 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	554	115
NR1H2	7376	broad.mit.edu	37	19	50881511	50881511	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50881511G>A	ENST00000253727.5	+	5	522	c.287G>A	c.(286-288)gGc>gAc	p.G96D	NR1H2_ENST00000599105.1_Missense_Mutation_p.G96D|NR1H2_ENST00000411902.2_Intron|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000593926.1_Missense_Mutation_p.G96D|NR1H2_ENST00000598168.1_Missense_Mutation_p.G96D	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	96					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		AAGGCCTCCGGCTTCCACTAC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	110	104			NA	NA	19		NA											NA				50881511		2192	4298	6490	SO:0001583	missense			U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408	7376	7376		Nuclear hormone receptors	7965	protein-coding gene	gene with protein product	liver X receptor-beta	600380	ubiquitously-expressed nuclear receptor	UNR	NA	7782080, 7971966	Standard		NM_007121	NA	Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.287G>A	19.37:g.50881511G>A	ENSP00000253727:p.Gly96Asp	NA	A8K490|Q12970|Q5I0Y1	37	CCDS42593.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505437	0.85282	.	.	ENSG00000131408	ENST00000253727;ENST00000376942	D	0.98701	-5.08	4.74	4.74	0.60224	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.64402	D	0.000008	D	0.99429	0.9798	H	0.96398	3.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.98319	1.0527	10	0.87932	D	0	.	17.0258	0.86446	0.0:0.0:1.0:0.0	.	96;96	P55055;F1D8P7	NR1H2_HUMAN;.	D	96	ENSP00000253727:G96D	ENSP00000253727:G96D	G	+	2	0	NR1H2	55573323	1.000000	0.71417	0.993000	0.49108	0.629000	0.37895	9.203000	0.95033	2.633000	0.89246	0.561000	0.74099	GGC	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464724.2		+	ENST00000253727.5	Missense_Mutation	SNP	19 : 50881511 - 50881511 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1432	286
MYT1L	23040	broad.mit.edu	37	2	1926559	1926559	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1926559C>A	ENST00000399161.2	-	10	1729	c.982G>T	c.(982-984)Gag>Tag	p.E328*	MYT1L_ENST00000428368.2_Nonsense_Mutation_p.E328*	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	328					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTCAAACACTCCAGACTGCTC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	94	92			NA	NA	2		NA											NA				1926559		2148	4253	6401	SO:0001587	stop_gained			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487	23040	23040		Zinc fingers, C2HC-type containing	7623	protein-coding gene	gene with protein product	neural zinc finger transcription factor 1	613084			NA	9373037	Standard	NM_015025	XM_006711862	NA	Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.982G>T	2.37:g.1926559C>A	ENSP00000382114:p.Glu328*	NA	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	37		.	.	.	.	.	.	.	.	.	.	C	44	10.777064	0.99466	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	.	.	.	5.75	4.88	0.63580	.	0.056711	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-42.0681	14.6267	0.68626	0.0:0.9303:0.0:0.0697	.	.	.	.	X	328;276;328	.	ENSP00000295067:E276X	E	-	1	0	MYT1L	1905566	1.000000	0.71417	0.984000	0.44739	0.651000	0.38670	7.685000	0.84117	1.442000	0.47568	0.655000	0.94253	GAG	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000322493.1		-	ENST00000399161.2	Nonsense_Mutation	SNP	2 : 1926559 - 1926559 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	479	123
CLCN6	1185	broad.mit.edu	37	1	11898697	11898697	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11898697G>A	ENST00000346436.6	+	22	2561	c.2509G>A	c.(2509-2511)Gtg>Atg	p.V837M	CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376487.3_Missense_Mutation_p.V815M|CLCN6_ENST00000376496.3_Missense_Mutation_p.V837M	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	837	CBS 2.				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CCACCTGCCCGTGGTGAACGC	0.622		NA									OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	93	97			NA	NA	1		NA											NA				11898697		2203	4300	6503	SO:0001583	missense			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021	1185	1185		Ion channels / Chloride channels : Voltage-sensitive	2024	protein-coding gene	gene with protein product		602726	chloride channel 6		NA	8543009	Standard	NM_001286	NM_001286	NA	Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.2509G>A	1.37:g.11898697G>A	ENSP00000234488:p.Val837Met	675	A8K1T4|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	37	CCDS138.1	.	.	.	.	.	.	.	.	.	.	G	30	5.049858	0.93740	.	.	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	D;D;D	0.98531	-4.98;-4.98;-4.98	5.4	5.4	0.78164	Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.99576	0.9847	H	0.99890	4.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97391	0.9989	10	0.72032	D	0.01	-31.6049	18.1816	0.89780	0.0:0.0:1.0:0.0	.	815;837	F8W9R3;P51797	.;CLCN6_HUMAN	M	837;815;837	ENSP00000234488:V837M;ENSP00000365670:V815M;ENSP00000365679:V837M	ENSP00000234488:V837M	V	+	1	0	CLCN6	11821284	1.000000	0.71417	0.953000	0.39169	0.894000	0.52154	9.476000	0.97823	2.536000	0.85505	0.561000	0.74099	GTG	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006639.2		+	ENST00000346436.6	Missense_Mutation	SNP	1 : 11898697 - 11898697 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	525	56
CD163	9332	broad.mit.edu	37	12	7639264	7639264	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7639264T>A	ENST00000359156.4	-	10	2491	c.2289A>T	c.(2287-2289)ggA>ggT	p.G763G	CD163_ENST00000541972.1_Silent_p.G751G|CD163_ENST00000396620.3_Silent_p.G796G|CD163_ENST00000432237.2_Silent_p.G763G	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	763	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TAATGGCCTCTCCACAGCCCA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	158	158			NA	NA	12		NA											NA				7639264		2203	4300	6503	SO:0001819	synonymous_variant			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575	9332	9332		CD molecules	1631	protein-coding gene	gene with protein product		605545	CD163 antigen		NA	10403791, 8370408	Standard	NM_004244, NM_203416	NM_004244	NA	Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.2289A>T	12.37:g.7639264T>A		NA	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	37	CCDS8578.1																																																																																			CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399396.2		-	ENST00000359156.4	Silent	SNP	12 : 7639264 - 7639264 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1076	144
RASL11B	65997	broad.mit.edu	37	4	53731934	53731934	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:53731934G>T	ENST00000248706.3	+	4	927	c.709G>T	c.(709-711)Gcc>Tcc	p.A237S	RASL11B_ENST00000505041.1_3'UTR	NM_023940.2	NP_076429.1	Q9BPW5	RSLBB_HUMAN	RAS-like, family 11, member B	237	Small GTPase-like.				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			GTTTAAGCAAGCCCTCTCTGC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	56	57			NA	NA	4		NA											NA				53731934		2203	4300	6503	SO:0001583	missense			BK001672	CCDS3490.1	4q12	2014-05-09			ENSG00000128045	ENSG00000128045	65997	65997			23804	protein-coding gene	gene with protein product		612404			NA		Standard	NM_023940	NM_023940	NA	Approved		uc003gzt.3	Q9BPW5	OTTHUMG00000102097	ENST00000248706.3:c.709G>T	4.37:g.53731934G>T	ENSP00000248706:p.Ala237Ser	NA	B2RC51|Q96KC5	37	CCDS3490.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855242	0.91355	.	.	ENSG00000128045	ENST00000248706	T	0.71103	-0.54	5.86	5.86	0.93980	.	0.044956	0.85682	D	0.000000	T	0.76695	0.4023	L	0.58810	1.83	0.80722	D	1	D	0.56968	0.978	P	0.50754	0.649	T	0.77632	-0.2515	10	0.56958	D	0.05	.	19.1747	0.93599	0.0:0.0:1.0:0.0	.	237	Q9BPW5	RSLBB_HUMAN	S	237	ENSP00000248706:A237S	ENSP00000248706:A237S	A	+	1	0	RASL11B	53426691	1.000000	0.71417	0.959000	0.39883	0.832000	0.47134	9.476000	0.97823	2.775000	0.95449	0.655000	0.94253	GCC	RASL11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219931.2		+	ENST00000248706.3	Missense_Mutation	SNP	4 : 53731934 - 53731934 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	244	39
SYT11	23208	broad.mit.edu	37	1	155851195	155851195	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155851195C>T	ENST00000368324.4	+	4	1445	c.1192C>T	c.(1192-1194)Ctg>Ttg	p.L398L	SYT11_ENST00000539162.1_Silent_p.L91L	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	398						cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GAGGCTGATCCTGGGGGCACA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	142	140			NA	NA	1		NA											NA				155851195		2203	4300	6503	SO:0001819	synonymous_variant			D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718	23208	23208		Synaptotagmins	19239	protein-coding gene	gene with protein product		608741			NA	11543631	Standard	NM_152280	NM_152280	NA	Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.1192C>T	1.37:g.155851195C>T		NA	Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	37	CCDS1122.1																																																																																			SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039597.1		+	ENST00000368324.4	Silent	SNP	1 : 155851195 - 155851195 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1143	47
MIA-RAB4B	100529262	broad.mit.edu	37	19	41281451	41281451	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41281451G>A	ENST00000600729.1	+	2	426	c.4G>A	c.(4-6)Gcc>Acc	p.A2T	MIA_ENST00000597784.1_Missense_Mutation_p.A2T|MIA_ENST00000263369.3_Missense_Mutation_p.A2T|MIA_ENST00000594436.1_Missense_Mutation_p.A2T					MIA-RAB4B readthrough (NMD candidate)	NA											NA						GTCCACGATGGCCCGGTCCCT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	157	163			NA	NA	19		NA											NA				41281451		2203	4300	6503	SO:0001583	missense					19q13.2	2013-05-10			ENSG00000268975	ENSG00000268975	100529262	100529262			48352	other	readthrough					NA		Standard		NR_037775	NA	Approved				OTTHUMG00000182782	ENST00000600729.1:c.4G>A	19.37:g.41281451G>A	ENSP00000472384:p.Ala2Thr	NA		37		.	.	.	.	.	.	.	.	.	.	G	5.107	0.205446	0.09704	.	.	ENSG00000167578	ENST00000419646;ENST00000263369	T	0.48201	0.82	4.17	0.864	0.19068	.	1.179790	0.06624	U	0.758034	T	0.37598	0.1009	L	0.47716	1.5	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.25328	-1.0135	10	0.21540	T	0.41	-12.7924	5.8375	0.18615	0.3372:0.0:0.6628:0.0	.	2	Q16674	MIA_HUMAN	T	2	ENSP00000263369:A2T	ENSP00000263369:A2T	A	+	1	0	RAB4B	45973291	0.991000	0.36638	0.466000	0.27168	0.299000	0.27559	1.848000	0.39309	0.509000	0.28195	0.561000	0.74099	GCC	MIA-RAB4B-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000463642.2		+	ENST00000600729.1	Missense_Mutation	SNP	19 : 41281451 - 41281451 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	971	30
SLC12A4	6560	broad.mit.edu	37	16	67980961	67980961	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67980961T>G	ENST00000316341.3	-	17	2260	c.2120A>C	c.(2119-2121)aAg>aCg	p.K707T	SLC12A4_ENST00000541864.2_Missense_Mutation_p.K676T|SLC12A4_ENST00000338335.3_Missense_Mutation_p.K707T|SLC12A4_ENST00000537830.2_Missense_Mutation_p.K701T|SLC12A4_ENST00000576616.1_Missense_Mutation_p.K707T|SLC12A4_ENST00000422611.2_Missense_Mutation_p.K709T|SLC12A4_ENST00000572037.1_Missense_Mutation_p.K659T	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	707					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCGCGGGTACTTCACGTGGAG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	24	25			NA	NA	16		NA											NA				67980961		2197	4300	6497	SO:0001583	missense				CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067	6560	6560		Solute carriers	10913	protein-coding gene	gene with protein product		604119			NA	8663127	Standard	NM_005072	NM_005072	NA	Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.2120A>C	16.37:g.67980961T>G	ENSP00000318557:p.Lys707Thr	NA	O60632|O75893|Q13953|Q96LD5	37	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.706646	0.89018	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15;-3.15	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.92211	0.7530	L	0.47078	1.49	0.80722	D	1	B;B;P;B;B;B	0.40553	0.09;0.172;0.721;0.138;0.138;0.172	B;B;P;B;B;B	0.45310	0.193;0.052;0.476;0.111;0.111;0.052	D	0.90615	0.4555	10	0.24483	T	0.36	.	16.0796	0.80995	0.0:0.0:0.0:1.0	.	709;707;676;701;707;707	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	T	709;676;701;707;707	ENSP00000395983:K709T;ENSP00000438334:K676T;ENSP00000445962:K701T;ENSP00000343374:K707T;ENSP00000318557:K707T	ENSP00000318557:K707T	K	-	2	0	SLC12A4	66538462	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.182000	0.58310	2.206000	0.71126	0.533000	0.62120	AAG	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268864.4		-	ENST00000316341.3	Missense_Mutation	SNP	16 : 67980961 - 67980961 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	136	11
MKI67	4288	broad.mit.edu	37	10	129907026	129907026	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129907026C>T	ENST00000368654.3	-	13	3453	c.3078G>A	c.(3076-3078)aaG>aaA	p.K1026K	MKI67_ENST00000368653.3_Silent_p.K666K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1026	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCAGGGATGCCTTCAACTGTT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													471	460	464			NA	NA	10		NA											NA				129907026		2203	4300	6503	SO:0001819	synonymous_variant			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773	4288	4288			7107	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 105	176741	antigen identified by monoclonal antibody Ki-67		NA	2571566, 16206250	Standard	NM_002417	NM_002417	NA	Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3078G>A	10.37:g.129907026C>T		NA	Q5VWH2	37	CCDS7659.1																																																																																			MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050999.1		-	ENST00000368654.3	Silent	SNP	10 : 129907026 - 129907026 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2786	579
CTCF	10664	broad.mit.edu	37	16	67645871	67645871	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67645871C>T	ENST00000264010.4	+	4	1243	c.799C>T	c.(799-801)Cag>Tag	p.Q267*	CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	267					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GAAGACATTCCAGTGTGAGCT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(175;1200 1966 6945 23069 27405)							NA				0													131	113	119			NA	NA	16		NA											NA				67645871		2198	4300	6498	SO:0001587	stop_gained			U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974	10664	10664		Zinc fingers, C2H2-type	13723	protein-coding gene	gene with protein product	11 zinc finger transcriptional repressor	604167			NA	8649389, 18550811	Standard	NM_006565	NM_006565	NA	Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.799C>T	16.37:g.67645871C>T	ENSP00000264010:p.Gln267*	NA	Q53XI7	37	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	C	38	6.867881	0.97897	.	.	ENSG00000102974	ENST00000264010	.	.	.	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	18.8894	0.92392	0.0:1.0:0.0:0.0	.	.	.	.	X	267	.	ENSP00000264010:Q267X	Q	+	1	0	CTCF	66203372	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.697000	0.92050	0.655000	0.94253	CAG	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268870.2		+	ENST00000264010.4	Nonsense_Mutation	SNP	16 : 67645871 - 67645871 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	527	42
PCSK5	5125	broad.mit.edu	37	9	78506218	78506218	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:78506218G>A	ENST00000376752.4	+	1	598	c.121G>A	c.(121-123)Gtc>Atc	p.V41I	PCSK5_ENST00000376767.3_Missense_Mutation_p.V41I|PCSK5_ENST00000545128.1_Missense_Mutation_p.V41I	NM_006200.3	NP_006191.2	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	41					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCACTGGGCAGTCAAAATCGC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	65	61			NA	NA	9		NA											NA				78506218		2203	4300	6503	SO:0001583	missense				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139	5125	5125			8747	protein-coding gene	gene with protein product		600488			NA	7782070	Standard		NM_001190482	NA	Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000376752.4:c.121G>A	9.37:g.78506218G>A	ENSP00000365943:p.Val41Ile	NA	Q13527|Q96EP4	37	CCDS6652.1	.	.	.	.	.	.	.	.	.	.	G	31	5.069113	0.93950	.	.	ENSG00000099139	ENST00000545128;ENST00000376767;ENST00000396108;ENST00000376752	T;T;T	0.46819	0.86;0.86;0.86	5.17	5.17	0.71159	.	.	.	.	.	T	0.63414	0.2509	M	0.80332	2.49	0.50632	D	0.999883	P;B	0.49447	0.924;0.264	P;B	0.51266	0.664;0.17	T	0.70121	-0.4959	9	0.72032	D	0.01	.	17.4482	0.87584	0.0:0.0:1.0:0.0	.	41;41	Q92824-2;B1AMG5	.;.	I	41	ENSP00000446280:V41I;ENSP00000365958:V41I;ENSP00000365943:V41I	ENSP00000365943:V41I	V	+	1	0	PCSK5	77696038	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.471000	0.66762	2.407000	0.81776	0.561000	0.74099	GTC	PCSK5-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052716.1		+	ENST00000376752.4	Missense_Mutation	SNP	9 : 78506218 - 78506218 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	727	127
CEP63	80254	broad.mit.edu	37	3	134226043	134226043	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134226043G>A	ENST00000337090.3	+	3	310	c.137G>A	c.(136-138)cGt>cAt	p.R46H	CEP63_ENST00000606977.1_Missense_Mutation_p.R46H|CEP63_ENST00000504013.1_3'UTR|CEP63_ENST00000354446.3_Missense_Mutation_p.R46H|CEP63_ENST00000332047.5_Missense_Mutation_p.R46H|CEP63_ENST00000513612.2_Missense_Mutation_p.R46H|CEP63_ENST00000383229.3_Missense_Mutation_p.R46H			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	46					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TGGGAAGGACGTACACATGCT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	123	123			NA	NA	3		NA											NA				134226043		2203	4300	6503	SO:0001583	missense			AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923	80254	80254			25815	protein-coding gene	gene with protein product		614724			NA	14654843, 24240477	Standard	NM_025180	NM_001042383	NA	Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.137G>A	3.37:g.134226043G>A	ENSP00000336524:p.Arg46His	NA	D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	37	CCDS3086.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993294	0.54041	.	.	ENSG00000182923	ENST00000332047;ENST00000354446;ENST00000511574;ENST00000337090;ENST00000383229;ENST00000512894;ENST00000513612	T;T;T;T;T;T;T	0.24538	1.93;1.93;1.93;1.93;1.93;1.85;1.93	5.25	2.9	0.33743	.	0.127443	0.53938	D	0.000052	T	0.11367	0.0277	N	0.08118	0	0.21499	N	0.999661	P;P;B;P	0.50272	0.916;0.933;0.098;0.567	B;B;B;B	0.38428	0.273;0.265;0.04;0.102	T	0.11012	-1.0605	10	0.72032	D	0.01	-7.3674	8.4607	0.32925	0.835:0.0:0.165:0.0	.	46;46;46;46	Q96MT8;Q96MT8-2;Q96MT8-4;Q96MT8-3	CEP63_HUMAN;.;.;.	H	46	ENSP00000328382:R46H;ENSP00000346432:R46H;ENSP00000424626:R46H;ENSP00000336524:R46H;ENSP00000372716:R46H;ENSP00000423225:R46H;ENSP00000426129:R46H	ENSP00000328382:R46H	R	+	2	0	CEP63	135708733	1.000000	0.71417	0.983000	0.44433	0.840000	0.47671	4.443000	0.59994	0.416000	0.25844	-0.302000	0.09304	CGT	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000470139.1		+	ENST00000337090.3	Missense_Mutation	SNP	3 : 134226043 - 134226043 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	87
PLA2G4C	8605	broad.mit.edu	37	19	48598787	48598787	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48598787C>T	ENST00000354276.3	-	7	970	c.643G>A	c.(643-645)Gga>Aga	p.G215R	PLA2G4C_ENST00000599111.1_Missense_Mutation_p.G225R|PLA2G4C_ENST00000599921.1_Missense_Mutation_p.G215R|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.G215R	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	215	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		AATTTGCTTCCGAAGTGGGTT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	139	134			NA	NA	19		NA											NA				48598787		2203	4300	6503	SO:0001583	missense			AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					8605	8605	3.1.1.4		9037	protein-coding gene	gene with protein product		603602			NA	9705332	Standard		NM_003706	NA	Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000354276.3:c.643G>A	19.37:g.48598787C>T	ENSP00000346228:p.Gly215Arg	NA	B2RB71|O75457|Q9UG68	37	CCDS54286.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401579	0.83120	.	.	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.48201	0.82;0.82	3.31	3.31	0.37934	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.000000	0.64402	U	0.000002	T	0.70954	0.3283	M	0.90082	3.085	0.34797	D	0.736353	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81885	-0.0727	10	0.87932	D	0	-13.7198	10.4531	0.44535	0.0:1.0:0.0:0.0	.	225;215	B4DI40;Q9UP65	.;PA24C_HUMAN	R	215	ENSP00000346228:G215R;ENSP00000400036:G215R	ENSP00000346228:G215R	G	-	1	0	PLA2G4C	53290599	1.000000	0.71417	0.678000	0.29963	0.839000	0.47603	3.119000	0.50422	1.553000	0.49476	0.205000	0.17691	GGA	PLA2G4C-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465549.1		-	ENST00000354276.3	Missense_Mutation	SNP	19 : 48598787 - 48598787 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1142	219
SGMS1	259230	broad.mit.edu	37	10	52103414	52103414	+	Missense_Mutation	SNP	G	G	A	rs141885016		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:52103414G>A	ENST00000361781.2	-	7	1420	c.461C>T	c.(460-462)tCg>tTg	p.S154L	SGMS1_ENST00000429490.1_Intron|SGMS1_ENST00000361543.2_Missense_Mutation_p.S154L	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	160					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GTGGACGACCGAGATCATCAC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	LEU/SER	0,4406		0,0,2203	69	62	64		461	5.6	1	10	dbSNP_134	64	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SGMS1	NM_147156.3	145	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	154/414	52103414	1,13005	2203	4300	6503	SO:0001583	missense			AY280959	CCDS7240.1	10q11.2	2013-01-10	2007-03-16	2007-03-16	ENSG00000198964	ENSG00000198964	259230	259230	2.7.8.27	Sterile alpha motif (SAM) domain containing	29799	protein-coding gene	gene with protein product		611573	transmembrane protein 23	TMEM23	NA	11841947, 14976195	Standard	NM_147156	NM_147156	NA	Approved	MOB, MGC17342, SMS1	uc001jje.3	Q86VZ5	OTTHUMG00000018231	ENST00000361781.2:c.461C>T	10.37:g.52103414G>A	ENSP00000354829:p.Ser154Leu	NA	Q68U43|Q6EKK0|Q75SP1	37	CCDS7240.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310062	0.81247	0.0	1.16E-4	ENSG00000198964	ENST00000361781;ENST00000361543	T;T	0.45668	0.98;0.89	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.47911	0.1471	L	0.52011	1.625	0.58432	D	0.999998	D	0.57571	0.98	P	0.48488	0.579	T	0.47355	-0.9124	10	0.56958	D	0.05	-9.9208	17.1838	0.86861	0.0:0.0:1.0:0.0	.	160	Q86VZ5	SMS1_HUMAN	L	154	ENSP00000354829:S154L;ENSP00000355235:S154L	ENSP00000355235:S154L	S	-	2	0	SGMS1	51773420	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.367000	0.97148	2.648000	0.89879	0.650000	0.86243	TCG	SGMS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048074.2		-	ENST00000361781.2	Missense_Mutation	SNP	10 : 52103414 - 52103414 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	306	70
TNN	63923	broad.mit.edu	37	1	175048561	175048561	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175048561C>T	ENST00000239462.4	+	3	615	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	168	EGF-like 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CGCCTGCGAGCGGCTGGCCTG	0.736		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													5	7	6			NA	NA	1		NA											NA				175048561		1883	3851	5734	SO:0001583	missense			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332	63923	63923		Fibrinogen C domain containing, Fibronectin type III domain containing	22942	protein-coding gene	gene with protein product					NA		Standard	XM_040527	NM_022093	NA	Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.502C>T	1.37:g.175048561C>T	ENSP00000239462:p.Arg168Trp	NA	B9EGP3|Q5R360	37	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.357543	0.24598	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.03358	3.96	4.46	3.53	0.40419	.	1.169990	0.06082	N	0.661968	T	0.09113	0.0225	M	0.81802	2.56	0.09310	N	0.999998	D;B	0.60160	0.987;0.159	B;B	0.38712	0.28;0.02	T	0.48896	-0.8994	10	0.87932	D	0	.	14.1649	0.65471	0.0:0.8483:0.1517:0.0	.	168;168	B3KXB6;Q9UQP3	.;TENN_HUMAN	W	168	ENSP00000239462:R168W	ENSP00000239462:R168W	R	+	1	2	TNN	173315184	0.004000	0.15560	0.423000	0.26634	0.069000	0.16628	1.331000	0.33793	0.948000	0.37687	0.491000	0.48974	CGG	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084422.1		+	ENST00000239462.4	Missense_Mutation	SNP	1 : 175048561 - 175048561 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	102	31
HAPLN3	145864	broad.mit.edu	37	15	89421412	89421412	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89421412G>A	ENST00000562889.1	-	6	1196	c.1058C>T	c.(1057-1059)gCc>gTc	p.A353V	HAPLN3_ENST00000359595.3_Missense_Mutation_p.A291V			Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	291	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					GGCGATCGTGGCATCATCTTC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	146	151			NA	NA	15		NA											NA				89421412		2200	4299	6499	SO:0001583	missense			AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511	145864	145864		Immunoglobulin superfamily / V-set domain containing	21446	protein-coding gene	gene with protein product			extracellular link domain containing, 1	EXLD1	NA	12663660	Standard	NM_178232	NM_178232	NA	Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000562889.1:c.1058C>T	15.37:g.89421412G>A	ENSP00000457180:p.Ala353Val	NA	A8K7P0	37		.	.	.	.	.	.	.	.	.	.	G	16.61	3.170122	0.57584	.	.	ENSG00000140511	ENST00000359595	T	0.47869	0.83	4.7	4.7	0.59300	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.181464	0.46758	D	0.000268	T	0.79209	0.4407	H	0.96604	3.85	0.44652	D	0.997635	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.993	D	0.87004	0.2118	10	0.87932	D	0	-25.7978	16.5998	0.84810	0.0:0.0:1.0:0.0	.	291;291	A8K7T8;Q96S86	.;HPLN3_HUMAN	V	291	ENSP00000352606:A291V	ENSP00000352606:A291V	A	-	2	0	HAPLN3	87222416	1.000000	0.71417	0.264000	0.24511	0.010000	0.07245	5.495000	0.66912	2.306000	0.77630	0.655000	0.94253	GCC	HAPLN3-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000415570.2		-	ENST00000562889.1	Missense_Mutation	SNP	15 : 89421412 - 89421412 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1121	190
REXO1	57455	broad.mit.edu	37	19	1820033	1820033	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1820033G>T	ENST00000170168.4	-	7	2644	c.2550C>A	c.(2548-2550)gcC>gcA	p.A850A		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	850						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCGGTCATAGGCCACCTTCT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	35	36			NA	NA	19		NA											NA				1820033		2203	4300	6503	SO:0001819	synonymous_variant			AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313	57455	57455			24616	protein-coding gene	gene with protein product	elongin A binding protein 1	609614	transcription elongation factor B polypeptide 3 binding protein 1	TCEB3BP1	NA	10574461	Standard	NM_020695	NM_020695	NA	Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.2550C>A	19.37:g.1820033G>T		NA	Q9ULT2	37	CCDS32866.1																																																																																			REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449200.1		-	ENST00000170168.4	Silent	SNP	19 : 1820033 - 1820033 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	297	13
TANC1	85461	broad.mit.edu	37	2	160086401	160086401	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160086401C>T	ENST00000263635.6	+	27	4701	c.4464C>T	c.(4462-4464)atC>atT	p.I1488I	TANC1_ENST00000454300.1_Silent_p.I1382I	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1488						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CCTCATACATCCGAAACCTTC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	99	97			NA	NA	2		NA											NA				160086401		1993	4159	6152	SO:0001819	synonymous_variant			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183	85461	85461		Ankyrin repeat domain containing, Tetratricopeptide (TTC) repeat domain containing	29364	protein-coding gene	gene with protein product	rolling pebbles homolog B (Drosophila)	611397			NA	15673434	Standard		NM_033394	NA	Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.4464C>T	2.37:g.160086401C>T		NA	C9JD88|Q49AI8	37	CCDS42766.1																																																																																			TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333135.1		+	ENST00000263635.6	Silent	SNP	2 : 160086401 - 160086401 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	744	199
ZNF195	7748	broad.mit.edu	37	11	3381120	3381120	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3381120T>G	ENST00000354599.6	-	4	1006	c.902A>C	c.(901-903)cAg>cCg	p.Q301P	ZNF195_ENST00000005082.9_Missense_Mutation_p.Q350P|ZNF195_ENST00000526601.1_Missense_Mutation_p.Q354P|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000399602.4_Missense_Mutation_p.Q373P|ZNF195_ENST00000429541.2_Missense_Mutation_p.Q305P|ZNF195_ENST00000343338.7_Missense_Mutation_p.Q305P	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		AAGAATCATCTGTTGATTAGA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	117	120			NA	NA	11		NA											NA				3381120		1895	4114	6009	SO:0001583	missense				CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801	NA	7748		Zinc fingers, C2H2-type, -	12986	protein-coding gene	gene with protein product		602187			NA	9344677	Standard		NM_001130520	NA	Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000354599.6:c.902A>C	11.37:g.3381120T>G	ENSP00000346613:p.Gln301Pro	NA	A8K234|B3KTK2|B4DEL0|Q0VAJ6|Q658N8|Q6ZNA9	37	CCDS41604.1	.	.	.	.	.	.	.	.	.	.	t	10.45	1.354863	0.24512	.	.	ENSG00000005801	ENST00000354599;ENST00000399602;ENST00000343338;ENST00000429541;ENST00000005082;ENST00000526601	T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3	0.501	0.501	0.16925	.	.	.	.	.	T	0.36524	0.0970	M	0.82823	2.61	0.23070	N	0.998342	P;P;D;P;P;P	0.53462	0.597;0.797;0.96;0.871;0.824;0.871	P;B;D;B;P;B	0.64237	0.679;0.088;0.923;0.18;0.84;0.18	T	0.10268	-1.0637	9	0.87932	D	0	.	5.265	0.15593	0.0:1.0E-4:0.0:0.9999	.	354;232;350;305;373;301	O14628-6;Q59EZ7;O14628-5;O14628-7;O14628;O14628-4	.;.;.;.;ZN195_HUMAN;.	P	301;373;305;305;350;354	ENSP00000346613:Q301P;ENSP00000382511:Q373P;ENSP00000344483:Q305P;ENSP00000387998:Q305P;ENSP00000005082:Q350P;ENSP00000435828:Q354P	ENSP00000005082:Q350P	Q	-	2	0	ZNF195	3337696	0.000000	0.05858	0.005000	0.12908	0.054000	0.15201	0.053000	0.14184	0.431000	0.26258	0.254000	0.18369	CAG	ZNF195-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032322.2		-	ENST00000354599.6	Missense_Mutation	SNP	11 : 3381120 - 3381120 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	848	160
FZD9	8326	broad.mit.edu	37	7	72849501	72849501	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72849501C>A	ENST00000344575.3	+	1	1393	c.1164C>A	c.(1162-1164)tgC>tgA	p.C388*		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	388					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTGGGCTTTGCTACGTGGCCA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(144;909 1878 36867 38226 39554)							NA				0													47	44	45			NA	NA	7		NA											NA				72849501		2203	4300	6503	SO:0001587	stop_gained			U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763	8326	8326		GPCR / Class F : Frizzled receptors, CD molecules	4047	protein-coding gene	gene with protein product		601766	frizzled (Drosophila) homolog 9, frizzled homolog 9 (Drosophila), frizzled 9, seven transmembrane spanning receptor, frizzled family receptor 9		NA	9147651, 10198163	Standard		NM_003508	NA	Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.1164C>A	7.37:g.72849501C>A	ENSP00000345785:p.Cys388*	NA		37	CCDS5548.1	.	.	.	.	.	.	.	.	.	.	C	36	5.774497	0.96922	.	.	ENSG00000188763	ENST00000344575	.	.	.	4.46	2.59	0.31030	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2442	0.37515	0.0:0.8161:0.0:0.1839	.	.	.	.	X	388	.	ENSP00000345785:C388X	C	+	3	2	FZD9	72487437	1.000000	0.71417	0.973000	0.42090	0.711000	0.40976	1.755000	0.38379	0.403000	0.25479	0.563000	0.77884	TGC	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252120.1		+	ENST00000344575.3	Nonsense_Mutation	SNP	7 : 72849501 - 72849501 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	378	35
EHD3	30845	broad.mit.edu	37	2	31467303	31467303	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31467303G>A	ENST00000322054.5	+	2	676	c.391G>A	c.(391-393)Gcc>Acc	p.A131T	EHD3_ENST00000541626.1_Missense_Mutation_p.A131T	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	131					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CTTTGGCAACGCCTTCTTGAA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	91	99			NA	NA	2		NA											NA				31467303		2203	4300	6503	SO:0001583	missense			AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016	30845	30845		EF-hand domain containing	3244	protein-coding gene	gene with protein product		605891		PAST3	NA	10673336	Standard	NM_014600	NM_014600	NA	Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.391G>A	2.37:g.31467303G>A	ENSP00000327116:p.Ala131Thr	NA	D6W574|Q8N514|Q9NZB3	37	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989006	0.74589	.	.	ENSG00000013016	ENST00000541626;ENST00000322054	D;D	0.95588	-3.75;-3.75	5.7	5.7	0.88788	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.93671	0.7978	L	0.44542	1.39	0.80722	D	1	B;B	0.29835	0.207;0.258	B;B	0.32393	0.074;0.145	D	0.91218	0.5004	10	0.38643	T	0.18	-18.8688	19.8471	0.96713	0.0:0.0:1.0:0.0	.	131;131	B4DFR5;Q9NZN3	.;EHD3_HUMAN	T	131	ENSP00000440685:A131T;ENSP00000327116:A131T	ENSP00000327116:A131T	A	+	1	0	EHD3	31320807	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.476000	0.97823	2.688000	0.91661	0.655000	0.94253	GCC	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216810.1		+	ENST00000322054.5	Missense_Mutation	SNP	2 : 31467303 - 31467303 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	301	84
FLT1	2321	broad.mit.edu	37	13	28964088	28964088	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28964088C>T	ENST00000282397.4	-	13	2065	c.1814G>A	c.(1813-1815)aGc>aAc	p.S605N	FLT1_ENST00000541932.1_Missense_Mutation_p.S605N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	605	Ig-like C2-type 6.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TTTTTGCTTGCTAATACTGTA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													302	254	270			NA	NA	13		NA											NA				28964088		2203	4300	6503	SO:0001583	missense			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2321	2321	2.7.10.1	Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	3763	protein-coding gene	gene with protein product	vascular endothelial growth factor receptor 1, vascular permeability factor receptor	165070	fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)	FLT	NA	2158038	Standard		NM_001159920	NA	Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1814G>A	13.37:g.28964088C>T	ENSP00000282397:p.Ser605Asn	NA	A8KA71|O60722|P16057|Q12954	37	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257874	0.39896	.	.	ENSG00000102755	ENST00000282397;ENST00000541932	T;T	0.75938	-0.98;-0.42	6.06	6.06	0.98353	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.545972	0.21229	N	0.078019	T	0.69682	0.3138	L	0.46157	1.445	0.80722	D	1	B;B;P	0.37594	0.077;0.029;0.601	B;B;B	0.36719	0.046;0.046;0.231	T	0.65582	-0.6133	10	0.22706	T	0.39	.	18.1336	0.89610	0.0:1.0:0.0:0.0	.	605;605;605	P17948-3;P17948-2;P17948	.;.;VGFR1_HUMAN	N	605	ENSP00000282397:S605N;ENSP00000437631:S605N	ENSP00000282397:S605N	S	-	2	0	FLT1	27862088	0.982000	0.34865	0.953000	0.39169	0.981000	0.71138	1.841000	0.39240	2.880000	0.98712	0.650000	0.86243	AGC	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044322.1		-	ENST00000282397.4	Missense_Mutation	SNP	13 : 28964088 - 28964088 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	677	28
ABCC9	10060	broad.mit.edu	37	12	21998636	21998636	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21998636G>A	ENST00000261200.4	-	24	2996	c.2997C>T	c.(2995-2997)ttC>ttT	p.F999F	ABCC9_ENST00000261201.4_Silent_p.F999F|ABCC9_ENST00000345162.2_Silent_p.F963F|RP11-729I10.2_ENST00000539874.1_RNA	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	999	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AAAGCTTAGAGAAAATCATCA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	119	127			NA	NA	12		NA											NA				21998636		2203	4300	6503	SO:0001819	synonymous_variant			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431	10060	10060		ATP binding cassette transporters / subfamily C	60	protein-coding gene	gene with protein product	sulfonylurea receptor 2	601439			NA	9457174, 15034580	Standard	NM_005691	NM_020297	NA	Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261200.4:c.2997C>T	12.37:g.21998636G>A		NA	O60707	37	CCDS8693.1																																																																																			ABCC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402228.1		-	ENST00000261200.4	Silent	SNP	12 : 21998636 - 21998636 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	264	39
TRRAP	8295	broad.mit.edu	37	7	98497112	98497112	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98497112T>C	ENST00000446306.3	+	8	762	c.701T>C	c.(700-702)tTa>tCa	p.L234S	TRRAP_ENST00000355540.3_Missense_Mutation_p.L234S|TRRAP_ENST00000359863.4_Missense_Mutation_p.L234S			Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	234					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATTGTTGTTTTAATGTATCAG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	160	162			NA	NA	7		NA											NA				98497112		2203	4300	6503	SO:0001583	missense			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367	8295	8295			12347	protein-coding gene	gene with protein product		603015			NA	9708738, 9885574	Standard	NM_003496	NM_003496	NA	Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000446306.3:c.701T>C	7.37:g.98497112T>C	ENSP00000403708:p.Leu234Ser	NA	A4D265|O75218|Q9Y631|Q9Y6H4	37		.	.	.	.	.	.	.	.	.	.	T	18.58	3.654112	0.67472	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.03181	4.03;4.02	5.31	5.31	0.75309	Armadillo-type fold (1);	0.000000	0.56097	D	0.000026	T	0.12689	0.0308	L	0.46567	1.45	0.80722	D	1	D;D	0.69078	0.997;0.995	D;D	0.75484	0.986;0.969	T	0.08371	-1.0725	10	0.32370	T	0.25	.	15.5558	0.76192	0.0:0.0:0.0:1.0	.	234;234	Q9Y4A5-2;Q9Y4A5	.;TRRAP_HUMAN	S	234	ENSP00000352925:L234S;ENSP00000347733:L234S	ENSP00000347733:L234S	L	+	2	0	TRRAP	98335048	1.000000	0.71417	0.875000	0.34327	0.971000	0.66376	7.915000	0.87484	2.136000	0.66102	0.379000	0.24179	TTA	TRRAP-004	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000317981.3		+	ENST00000446306.3	Missense_Mutation	SNP	7 : 98497112 - 98497112 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	608	110
MAGEC1	9947	broad.mit.edu	37	X	140995998	140995998	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140995998G>A	ENST00000285879.4	+	4	3094	c.2808G>A	c.(2806-2808)acG>acA	p.T936T	MAGEC1_ENST00000406005.2_Silent_p.T3T	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	936	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGATGCTGACGAATGTCATCA	0.468		NA								HNSCC(15;0.026)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,3835		0,0,0,1632,571	156	145	149		2808	-0.2	0	X		149	1,6727		0,0,1,2428,1871	no	coding-synonymous	MAGEC1	NM_005462.4		0,0,1,4060,2442	AA,AG,A,GG,G	NA	0.0149,0.0,0.0095		936/1143	140995998	1,10562	2203	4300	6503	SO:0001819	synonymous_variant			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495	9947	9947			6812	protein-coding gene	gene with protein product	cancer/testis antigen family 7, member 1	300223			NA	9485030, 9618514	Standard	NM_005462	NM_005462	NA	Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2808G>A	X.37:g.140995998G>A		NA	O75451|Q8TCV4	37	CCDS35417.1																																																																																			MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058604.1		+	ENST00000285879.4	Silent	SNP	X : 140995998 - 140995998 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	834	210
CD7	924	broad.mit.edu	37	17	80274664	80274664	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80274664C>A	ENST00000578509.1	-	0	368				CD7_ENST00000584284.1_Silent_p.G92G|CD7_ENST00000312648.3_Silent_p.G92G|CD7_ENST00000583376.1_5'UTR			P09564	CD7_HUMAN	CD7 molecule	NA					immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			TGTCCTGGGACCCTGAGAAGT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(45;804 1068 19702 28207 28798)							NA				0													127	115	119			NA	NA	17		NA											NA				80274664		2203	4300	6503	SO:0001623	5_prime_UTR_variant			X06180	CCDS11807.1	17q25.2-q25.3	2013-01-11	2006-03-28			ENSG00000173762	924	924		CD molecules, Immunoglobulin superfamily / V-set domain containing	1695	protein-coding gene	gene with protein product	p41 protein, T-cell antigen CD7, T-cell leukemia antigen	186820	CD7 antigen (p41)		NA	1695199, 3501369	Standard	NM_006137	NM_006137	NA	Approved	GP40, LEU-9, TP41, Tp40	uc002kel.1	P09564		ENST00000578509.1:c.-25G>T	17.37:g.80274664C>A		NA		37																																																																																				CD7-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000442828.1		-	ENST00000578509.1	5'UTR	SNP	17 : 80274664 - 80274664 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	751	148
C2CD3	26005	broad.mit.edu	37	11	73809190	73809190	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73809190C>T	ENST00000313663.7	-	16	3069	c.2843G>A	c.(2842-2844)cGa>cAa	p.R948Q	C2CD3_ENST00000334126.7_Missense_Mutation_p.R948Q	NM_015531.4	NP_056346.3	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	948						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TAAAAAGACTCGAAGACTCCC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	101	100			NA	NA	11		NA											NA				73809190		2200	4293	6493	SO:0001583	missense			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014	26005	26005			24564	protein-coding gene	gene with protein product		615944			NA		Standard	NM_015531	XM_005273897	NA	Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000313663.7:c.2843G>A	11.37:g.73809190C>T	ENSP00000323339:p.Arg948Gln	NA	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	37	CCDS31636.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808921	0.90707	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.39997	1.05;1.05	5.62	5.62	0.85841	.	0.055819	0.64402	D	0.000002	T	0.51517	0.1679	L	0.37630	1.12	0.37872	D	0.930098	D	0.89917	1.0	D	0.83275	0.996	T	0.55872	-0.8072	10	0.59425	D	0.04	-9.4236	9.4907	0.38958	0.0:0.7798:0.1446:0.0755	.	948	Q4AC94-1	.	Q	948	ENSP00000334379:R948Q;ENSP00000323339:R948Q	ENSP00000323339:R948Q	R	-	2	0	C2CD3	73486838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.813000	0.62620	2.794000	0.96219	0.650000	0.86243	CGA	C2CD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398210.1		-	ENST00000313663.7	Missense_Mutation	SNP	11 : 73809190 - 73809190 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	541	83
CST11	140880	broad.mit.edu	37	20	23433311	23433311	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23433311G>A	ENST00000377009.3	-	1	171	c.138C>T	c.(136-138)gaC>gaT	p.D46D	CST11_ENST00000377007.3_Silent_p.D46D	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	46					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					ACTGCAAGCTGTCCTTCGCAT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													211	184	193			NA	NA	20		NA											NA				23433311		2203	4300	6503	SO:0001819	synonymous_variant			AL096677	CCDS13154.1, CCDS13155.1	20p11.21	2012-08-14			ENSG00000125831	ENSG00000125831	140880	140880			15959	protein-coding gene	gene with protein product		609731		CST8L	NA	20565543	Standard	NM_130794	NM_080830	NA	Approved	dJ322G13.6, CTES2	uc002wtf.1	Q9H112	OTTHUMG00000032060	ENST00000377009.3:c.138C>T	20.37:g.23433311G>A		NA	Q0VAF2|Q0VAF3|Q8WXU5|Q8WXU6|Q9H113	37	CCDS13155.1																																																																																			CST11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078314.1		-	ENST00000377009.3	Silent	SNP	20 : 23433311 - 23433311 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	981	197
CCT7	10574	broad.mit.edu	37	2	73471724	73471724	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73471724C>A	ENST00000258091.5	+	6	640	c.499C>A	c.(499-501)Ctg>Atg	p.L167M	CCT7_ENST00000539919.1_Missense_Mutation_p.L123M|CCT7_ENST00000540468.1_Missense_Mutation_p.L80M|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000537131.1_Missense_Mutation_p.L67M|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000538797.1_Missense_Mutation_p.L39M	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	167					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						GAGCTCCAAGCTGATCTCCCA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	57	57			NA	NA	2		NA											NA				73471724		2060	4214	6274	SO:0001583	missense			AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624	10574	10574		Heat Shock Proteins / Chaperonins	1622	protein-coding gene	gene with protein product		605140			NA	9819444	Standard		NM_006429	NA	Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.499C>A	2.37:g.73471724C>A	ENSP00000258091:p.Leu167Met	NA	A8K7E6|B7WNW9|O14871|Q6FI26	37	CCDS46336.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017429	0.75161	.	.	ENSG00000135624	ENST00000540468;ENST00000539919;ENST00000258091;ENST00000537131;ENST00000538797;ENST00000409081	T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47	4.89	4.02	0.46733	.	0.149169	0.45867	D	0.000322	D	0.87034	0.6077	M	0.85542	2.76	0.80722	D	1	D;P;P;P;P	0.57899	0.981;0.728;0.682;0.73;0.692	P;P;B;P;P	0.56648	0.803;0.451;0.397;0.612;0.5	D	0.87435	0.2391	10	0.46703	T	0.11	-14.8483	11.3016	0.49309	0.0:0.9111:0.0:0.0889	.	80;39;67;125;167	B7Z4Z7;B7Z1C9;F5GZK5;B8ZZC9;Q99832	.;.;.;.;TCPH_HUMAN	M	80;123;167;67;39;125	ENSP00000442058:L80M;ENSP00000437824:L123M;ENSP00000258091:L167M;ENSP00000444379:L67M;ENSP00000438462:L39M	ENSP00000258091:L167M	L	+	1	2	CCT7	73325232	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.223000	0.51231	1.431000	0.47355	0.563000	0.77884	CTG	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327714.2		+	ENST00000258091.5	Missense_Mutation	SNP	2 : 73471724 - 73471724 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	162	26
LPIN1	23175	broad.mit.edu	37	2	11922524	11922524	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11922524G>T	ENST00000396097.1	+	3	640	c.237G>T	c.(235-237)gaG>gaT	p.E79D	LPIN1_ENST00000449576.2_Missense_Mutation_p.E434D|LPIN1_ENST00000425416.2_Missense_Mutation_p.E355D|LPIN1_ENST00000396098.1_Missense_Mutation_p.E391D|LPIN1_ENST00000396099.1_Missense_Mutation_p.E391D|LPIN1_ENST00000256720.2_Missense_Mutation_p.E349D			Q14693	LPIN1_HUMAN	lipin 1	349	N-LIP.				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		AAGACCTGGAGACCTTAGGAG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	87	87			NA	NA	2		NA											NA				11922524		2203	4300	6503	SO:0001583	missense			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324	23175	23175			13345	protein-coding gene	gene with protein product		605518			NA	11138012, 8724849, 16950137	Standard	NM_145693	NM_145693	NA	Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000396097.1:c.237G>T	2.37:g.11922524G>T	ENSP00000379404:p.Glu79Asp	NA	Q53T25	37		.	.	.	.	.	.	.	.	.	.	G	10.14	1.269071	0.23221	.	.	ENSG00000134324	ENST00000449576;ENST00000396098;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097	T;T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48;-0.48	5.5	5.5	0.81552	.	0.518813	0.22091	N	0.064743	T	0.65015	0.2651	L	0.58810	1.83	0.80722	D	1	B;B;B	0.16166	0.016;0.002;0.011	B;B;B	0.17979	0.02;0.006;0.019	T	0.58399	-0.7643	10	0.25106	T	0.35	-25.3093	11.3028	0.49316	0.0708:0.1284:0.8008:0.0	.	434;349;391	F5GY24;Q14693;A8MU38	.;LPIN1_HUMAN;.	D	434;391;391;355;349;79	ENSP00000397908:E434D;ENSP00000379405:E391D;ENSP00000379406:E391D;ENSP00000401522:E355D;ENSP00000256720:E349D;ENSP00000379404:E79D	ENSP00000256720:E349D	E	+	3	2	LPIN1	11839975	1.000000	0.71417	0.847000	0.33407	0.018000	0.09664	3.696000	0.54757	2.757000	0.94681	0.655000	0.94253	GAG	LPIN1-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000277151.1		+	ENST00000396097.1	Missense_Mutation	SNP	2 : 11922524 - 11922524 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	401	98
SLC12A6	9990	broad.mit.edu	37	15	34546711	34546711	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34546711C>T	ENST00000354181.3	-	9	1448	c.956G>A	c.(955-957)cGt>cAt	p.R319H	SLC12A6_ENST00000451844.2_Missense_Mutation_p.R131H|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R304H|SLC12A6_ENST00000397702.2_Missense_Mutation_p.R260H|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R260H|SLC12A6_ENST00000560611.1_Missense_Mutation_p.R319H|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R319H|SLC12A6_ENST00000558589.1_Missense_Mutation_p.R310H|SLC12A6_ENST00000560164.1_Missense_Mutation_p.R131H|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R268H			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	319					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GCCGTAGACACGCATGTTATT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	142	124	130		779,779,929,911,803,956	5.1	1	15		130	0,8596		0,0,4298	no	missense,missense,missense,missense,missense,missense	SLC12A6	NM_001042494.1,NM_001042495.1,NM_001042496.1,NM_001042497.1,NM_005135.2,NM_133647.1	29,29,29,29,29,29	0,1,6498	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	260/1092,260/1092,310/1142,304/1136,268/1100,319/1151	34546711	1,12997	2201	4298	6499	SO:0001583	missense			AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199	9990	9990		Solute carriers	10914	protein-coding gene	gene with protein product		604878	agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)	KCC3, ACCPN	NA	10187864, 10347194	Standard	NM_005135	NM_133647	NA	Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.956G>A	15.37:g.34546711C>T	ENSP00000346112:p.Arg319His	NA	Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	37	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	C	35	5.421433	0.96111	2.27E-4	0.0	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.86366	-2.1;-2.11;-2.11;-2.11;-1.59	5.1	5.1	0.69264	Amino acid permease domain (1);	0.063721	0.64402	N	0.000006	D	0.95601	0.8570	H	0.95402	3.665	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.993;0.999;1.0	D	0.96738	0.9544	10	0.87932	D	0	.	17.4519	0.87594	0.0:1.0:0.0:0.0	.	304;319;268;131	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	H	268;304;310;260;260;131	ENSP00000290209:R268H;ENSP00000380819:R304H;ENSP00000380814:R260H;ENSP00000387725:R260H;ENSP00000390199:R131H	ENSP00000290209:R268H	R	-	2	0	SLC12A6	32334003	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.634000	0.89283	0.655000	0.94253	CGT	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417991.1		-	ENST00000354181.3	Missense_Mutation	SNP	15 : 34546711 - 34546711 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	50
LAMA5	3911	broad.mit.edu	37	20	60926993	60926993	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60926993G>A	ENST00000252999.3	-	5	896	c.830C>T	c.(829-831)gCg>gTg	p.A277V	LAMA5_ENST00000370692.3_Missense_Mutation_p.A277V|LAMA5_ENST00000370677.3_Missense_Mutation_p.A277V	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	277	Laminin N-terminal.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCCCGCAGCGCCTTCCCCAT	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	33	36			NA	NA	20		NA											NA				60926993		2200	4289	6489	SO:0001583	missense			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702	3911	3911		Laminins	6485	protein-coding gene	gene with protein product		601033			NA	9271224	Standard	NM_005560	NM_005560	NA	Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.830C>T	20.37:g.60926993G>A	ENSP00000252999:p.Ala277Val	NA	Q8TDF8|Q8WZA7|Q9H1P1	37	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	g	34	5.382019	0.95967	.	.	ENSG00000130702	ENST00000252999;ENST00000370692;ENST00000370677	T;T;T	0.36878	2.08;1.23;1.33	4.24	4.24	0.50183	Laminin, N-terminal (3);	0.117957	0.56097	U	0.000021	T	0.49115	0.1538	L	0.35341	1.055	0.54753	D	0.999988	D	0.89917	1.0	D	0.71414	0.973	T	0.54899	-0.8224	10	0.72032	D	0.01	.	16.6321	0.85036	0.0:0.0:1.0:0.0	.	277	O15230	LAMA5_HUMAN	V	277	ENSP00000252999:A277V;ENSP00000359726:A277V;ENSP00000359711:A277V	ENSP00000252999:A277V	A	-	2	0	LAMA5	60360388	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.737000	0.98831	1.915000	0.55452	0.486000	0.48141	GCG	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080014.2		-	ENST00000252999.3	Missense_Mutation	SNP	20 : 60926993 - 60926993 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	121	26
BICD1	636	broad.mit.edu	37	12	32490443	32490443	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32490443T>C	ENST00000548411.1	+	7	2444	c.2263T>C	c.(2263-2265)Tat>Cat	p.Y755H	BICD1_ENST00000281474.5_Missense_Mutation_p.Y755H	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	755	Interacts with RAB6A.				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			ATGTGATGAATATGTCACCCA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	86	88			NA	NA	12		NA											NA				32490443		2203	4300	6503	SO:0001583	missense			U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746	636	636			1049	protein-coding gene	gene with protein product		602204	Bicaudal D (Drosophila) homolog 1		NA	9367685	Standard	NM_001714	NM_001714	NA	Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000548411.1:c.2263T>C	12.37:g.32490443T>C	ENSP00000446793:p.Tyr755His	NA	A8K2C3|O43892|O43893	37	CCDS44859.1	.	.	.	.	.	.	.	.	.	.	T	18.47	3.631919	0.67015	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.59906	0.23;0.23	4.66	4.66	0.58398	.	0.000000	0.64402	D	0.000001	T	0.78123	0.4234	M	0.89214	3.015	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	T	0.79431	-0.1806	10	0.31617	T	0.26	.	14.2758	0.66179	0.0:0.0:0.0:1.0	.	755;755	F8W113;Q96G01	.;BICD1_HUMAN	H	755	ENSP00000446793:Y755H;ENSP00000281474:Y755H	ENSP00000281474:Y755H	Y	+	1	0	BICD1	32381710	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.600000	0.82769	1.968000	0.57251	0.482000	0.46254	TAT	BICD1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403379.2		+	ENST00000548411.1	Missense_Mutation	SNP	12 : 32490443 - 32490443 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	504	90
HEXB	3074	broad.mit.edu	37	5	74009400	74009400	+	Nonsense_Mutation	SNP	C	C	T	rs138914144		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74009400C>T	ENST00000511181.1	+	7	1078	c.166C>T	c.(166-168)Cga>Tga	p.R56*	HEXB_ENST00000261416.7_Nonsense_Mutation_p.R281*			P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	281					cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		TGCCAGATTACGAGGAATTCG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(66;841 1270 13391 18706 27225)							NA				0								C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	152	150	151		841	3.7	1	5	dbSNP_134	151	0,8600		0,0,4300	no	stop-gained	HEXB	NM_000521.3		0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077		281/557	74009400	1,13005	2203	4300	6503	SO:0001587	stop_gained			M13519	CCDS4022.1	5q13.3	2012-10-02			ENSG00000049860	ENSG00000049860	3074	3074	3.2.1.52		4879	protein-coding gene	gene with protein product		606873			NA	2579389, 3013851	Standard	NM_000521	NM_000521	NA	Approved		uc003kdf.4	P07686	OTTHUMG00000102057	ENST00000511181.1:c.166C>T	5.37:g.74009400C>T	ENSP00000426285:p.Arg56*	NA		37		.	.	.	.	.	.	.	.	.	.	C	46	12.186262	0.99644	2.27E-4	0.0	ENSG00000049860	ENST00000511181;ENST00000261416	.	.	.	5.59	3.71	0.42584	.	0.097811	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9659	8.8862	0.35404	0.2495:0.6724:0.0:0.0781	.	.	.	.	X	56;281	.	ENSP00000261416:R281X	R	+	1	2	HEXB	74045156	1.000000	0.71417	0.975000	0.42487	0.997000	0.91878	2.131000	0.42074	1.358000	0.45922	0.555000	0.69702	CGA	HEXB-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000369003.1		+	ENST00000511181.1	Nonsense_Mutation	SNP	5 : 74009400 - 74009400 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	683	110
EHMT1	79813	broad.mit.edu	37	9	140728842	140728842	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140728842C>T	ENST00000460843.1	+	26	3609	c.3582C>T	c.(3580-3582)aaC>aaT	p.N1194N		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1194	SET.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TCTACGGGAACGTCAGCCGGT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	67	68			NA	NA	9		NA											NA				140728842		2202	4300	6502	SO:0001819	synonymous_variant			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	79813	79813	2.1.1.43	Chromatin-modifying enzymes / K-methyltransferases, Ankyrin repeat domain containing	24650	protein-coding gene	gene with protein product		607001	euchromatic histone methyltransferase 1		NA	11347906, 12004135	Standard	NM_024757	NM_024757	NA	Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.3582C>T	9.37:g.140728842C>T		NA	B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	37	CCDS7050.2																																																																																			EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055371.2		+	ENST00000460843.1	Silent	SNP	9 : 140728842 - 140728842 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	346	61
RNF19B	127544	broad.mit.edu	37	1	33412058	33412058	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33412058G>T	ENST00000356990.5	-	4	1090	c.1091C>A	c.(1090-1092)gCt>gAt	p.A364D	RNF19B_ENST00000373456.7_Missense_Mutation_p.A365D|RNF19B_ENST00000235150.4_Missense_Mutation_p.A364D	NM_001127361.1	NP_001120833.1	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	365						integral to membrane	ligase activity|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGCAATGCCAGCAATGAGAGA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	77	83			NA	NA	1		NA											NA				33412058		2203	4300	6503	SO:0001583	missense			AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514	127544	127544		RING-type (C3HC4) zinc fingers	26886	protein-coding gene	gene with protein product		610872	IBR domain containing 3	IBRDC3	NA	12477932	Standard	NM_153341	XM_006710356	NA	Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000356990.5:c.1091C>A	1.37:g.33412058G>T	ENSP00000349482:p.Ala364Asp	NA	Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	37	CCDS44107.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517053	0.85495	.	.	ENSG00000116514	ENST00000373456;ENST00000356990;ENST00000235150;ENST00000405457	T;T;T	0.39056	1.1;1.18;1.11	5.5	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.66973	0.2844	M	0.81942	2.565	0.80722	D	1	D;B;D	0.89917	1.0;0.125;1.0	D;B;D	0.91635	0.999;0.028;0.999	T	0.73560	-0.3944	10	0.87932	D	0	.	16.1114	0.81266	0.0:0.0:0.8652:0.1348	.	364;365;364	G3XA82;Q6ZMZ0;E9PAW6	.;RN19B_HUMAN;.	D	365;364;364;263	ENSP00000362555:A365D;ENSP00000349482:A364D;ENSP00000235150:A364D	ENSP00000235150:A364D	A	-	2	0	RNF19B	33184645	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.781000	0.99029	1.456000	0.47831	0.563000	0.77884	GCT	RNF19B-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092184.2		-	ENST00000356990.5	Missense_Mutation	SNP	1 : 33412058 - 33412058 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	170	37
MFSD12	126321	broad.mit.edu	37	19	3547970	3547970	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3547970C>T	ENST00000355415.2	-	4	882	c.713G>A	c.(712-714)gGc>gAc	p.G238D	MFSD12_ENST00000389395.3_Missense_Mutation_p.G238D|MFSD12_ENST00000398558.4_Missense_Mutation_p.G238D|AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000591878.1_5'UTR	NM_174983.3	NP_778148.2	Q6NUT3	CS028_HUMAN	major facilitator superfamily domain containing 12	238					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						CTCCCGGGTGCCCAGGTGGAA	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	19	17			NA	NA	19		NA											NA				3547970		1969	4102	6071	SO:0001583	missense			AF218008	CCDS42465.1, CCDS74256.1	19p13.3	2012-03-09	2011-11-24	2011-11-24	ENSG00000161091	ENSG00000161091	126321	126321			28299	protein-coding gene	gene with protein product			chromosome 19 open reading frame 28	C19orf28	NA	12477932	Standard	NM_174983	NM_174983	NA	Approved	MGC20700, PP3501	uc002lxw.3	Q6NUT3		ENST00000355415.2:c.713G>A	19.37:g.3547970C>T	ENSP00000347583:p.Gly238Asp	NA	D6W615|Q8N459	37	CCDS42465.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862734	0.91511	.	.	ENSG00000161091	ENST00000389395;ENST00000398558;ENST00000355415	T;T;T	0.81247	-1.47;-1.47;-1.47	4.62	4.62	0.57501	Major facilitator superfamily domain, general substrate transporter (1);	0.099649	0.64402	D	0.000002	D	0.90099	0.6907	M	0.84326	2.69	0.80722	D	1	D;D;D	0.89917	0.997;0.999;1.0	D;D;D	0.83275	0.987;0.979;0.996	D	0.91496	0.5215	10	0.59425	D	0.04	-28.9866	16.4743	0.84128	0.0:1.0:0.0:0.0	.	238;229;238	Q6NUT3;Q6NUT3-2;A8MXP7	CS028_HUMAN;.;.	D	238	ENSP00000374046:G238D;ENSP00000381566:G238D;ENSP00000347583:G238D	ENSP00000347583:G238D	G	-	2	0	C19orf28	3498970	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.409000	0.66374	2.112000	0.64535	0.555000	0.69702	GGC	MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452949.2		-	ENST00000355415.2	Missense_Mutation	SNP	19 : 3547970 - 3547970 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	245	53
SAT2	112483	broad.mit.edu	37	17	7530896	7530896	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7530896G>T	ENST00000269298.5	-	1	277	c.58C>A	c.(58-60)Ctg>Atg	p.L20M	SAT2_ENST00000380466.2_5'UTR|SHBG_ENST00000576478.1_Intron|SAT2_ENST00000573566.1_Missense_Mutation_p.L20M|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000576728.1_Intron	NM_133491.3	NP_597998.1	Q96F10	SAT2_HUMAN	spermidine/spermine N1-acetyltransferase family member 2	20	N-acetyltransferase.					cytoplasm	diamine N-acetyltransferase activity	p.?(1)		kidney(1)|large_intestine(2)	3				READ - Rectum adenocarcinoma(115;0.166)	Spermine(DB00127)	ACCCGAATCAGCCTCAGGATA	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											56	50	52			NA	NA	17		NA											NA				7530896		2203	4300	6503	SO:0001583	missense			AF348524	CCDS11116.1	17p13.2	2011-11-16	2008-01-07		ENSG00000141504	ENSG00000141504	112483	112483	2.3.1.57		23160	protein-coding gene	gene with protein product	diamine N-acetyltransferase 2	611463	spermidine/spermine N1-acetyltransferase 2		NA	15283699, 17558023	Standard	NM_133491	NM_133491	NA	Approved	SSAT2	uc002gic.2	Q96F10	OTTHUMG00000108152	ENST00000269298.5:c.58C>A	17.37:g.7530896G>T	ENSP00000269298:p.Leu20Met	NA		37	CCDS11116.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.725|8.725	0.915223|0.915223	0.17907|0.17907	.|.	.|.	ENSG00000141504|ENSG00000141504	ENST00000380466|ENST00000269298	.|T	.|0.57436	.|0.4	4.95|4.95	-0.0586|-0.0586	0.13796|0.13796	.|GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.585199|.	0.13069|.	N|.	0.416296|.	T|T	0.21590|0.21590	0.0520|0.0520	N|N	0.02420|0.02420	-0.555|-0.555	0.80722|0.80722	D|D	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.09377	.|0.004	T|T	0.04454|0.04454	-1.0950|-1.0950	7|9	0.16896|0.24483	T|T	0.51|0.36	-44.0846|-44.0846	6.3391|6.3391	0.21312|0.21312	0.0939:0.0:0.3584:0.5477|0.0939:0.0:0.3584:0.5477	.|.	.|20	.|Q96F10	.|SAT2_HUMAN	D|M	93|20	.|ENSP00000269298:L20M	ENSP00000369833:A93D|ENSP00000269298:L20M	A|L	-|-	2|1	0|2	SAT2|SAT2	7471621|7471621	0.884000|0.884000	0.30299|0.30299	0.998000|0.998000	0.56505|0.56505	0.811000|0.811000	0.45836|0.45836	-0.159000|-0.159000	0.10056|0.10056	0.200000|0.200000	0.20447|0.20447	-0.126000|-0.126000	0.14955|0.14955	GCT|CTG	SAT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000440078.1		-	ENST00000269298.5	Missense_Mutation	SNP	17 : 7530896 - 7530896 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	56
TBC1D2	55357	broad.mit.edu	37	9	100961829	100961829	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100961829C>T	ENST00000375066.5	-	13	2679	c.2588G>A	c.(2587-2589)cGc>cAc	p.R863H	TBC1D2_ENST00000342112.5_Missense_Mutation_p.R656H|TBC1D2_ENST00000375063.1_Missense_Mutation_p.R414H|TBC1D2_ENST00000375064.1_3'UTR	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	874						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CTGTTTCATGCGGAAGGGGTT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	139	138			NA	NA	9		NA											NA				100961829		2203	4300	6503	SO:0001583	missense			AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383	55357	55357			18026	protein-coding gene	gene with protein product	prostate antigen recognized and identified by SEREX	609871			NA		Standard	NM_018421	NM_018421	NA	Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375066.5:c.2588G>A	9.37:g.100961829C>T	ENSP00000364207:p.Arg863His	NA	B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	37	CCDS35080.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996325	0.54147	.	.	ENSG00000095383	ENST00000375066;ENST00000342112;ENST00000375063	T;T;T	0.08720	3.06;3.48;3.08	5.51	2.54	0.30619	Rab-GAP/TBC domain (1);	0.423651	0.25774	N	0.028394	T	0.07818	0.0196	N	0.14661	0.345	0.26248	N	0.978766	D;D	0.57899	0.968;0.981	B;P	0.45449	0.288;0.481	T	0.12528	-1.0544	10	0.66056	D	0.02	.	17.0294	0.86457	0.0:0.5717:0.4283:0.0	.	874;863	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	H	863;656;414	ENSP00000364207:R863H;ENSP00000341567:R656H;ENSP00000364203:R414H	ENSP00000341567:R656H	R	-	2	0	TBC1D2	100001650	1.000000	0.71417	0.075000	0.20258	0.576000	0.36127	3.606000	0.54095	0.218000	0.20820	-0.416000	0.06073	CGC	TBC1D2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053367.1		-	ENST00000375066.5	Missense_Mutation	SNP	9 : 100961829 - 100961829 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1496	259
PRDM8	56978	broad.mit.edu	37	4	81123374	81123374	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:81123374G>T	ENST00000504452.1	+	8	1597	c.758G>T	c.(757-759)aGc>aTc	p.S253I	PRDM8_ENST00000339711.4_Missense_Mutation_p.S253I|PRDM8_ENST00000415738.2_Missense_Mutation_p.S253I			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	253	Gly-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						GCCGGCGGCAGCAGCGCGAAG	0.672		NA									OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	26	24			NA	NA	4		NA											NA				81123374		1583	3656	5239	SO:0001583	missense			AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784	56978	56978			13993	protein-coding gene	gene with protein product					NA		Standard		NM_020226	NA	Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.758G>T	4.37:g.81123374G>T	ENSP00000423985:p.Ser253Ile	1203	A8K7X2|Q6IQ36	37	CCDS43243.1	.	.	.	.	.	.	.	.	.	.	G	6.523	0.464675	0.12402	.	.	ENSG00000152784	ENST00000504452;ENST00000515013;ENST00000339711;ENST00000415738	T;T;T;T	0.65178	-0.14;0.43;-0.14;-0.14	4.52	0.658	0.17855	.	0.584987	0.17590	U	0.168790	T	0.37679	0.1012	N	0.14661	0.345	0.09310	N	1	B	0.23650	0.089	B	0.14023	0.01	T	0.19516	-1.0303	10	0.56958	D	0.05	.	4.8306	0.13437	0.1974:0.3288:0.4738:0.0	.	253	Q9NQV8	PRDM8_HUMAN	I	253	ENSP00000423985:S253I;ENSP00000425149:S253I;ENSP00000339764:S253I;ENSP00000406998:S253I	ENSP00000339764:S253I	S	+	2	0	PRDM8	81342398	0.124000	0.22315	0.000000	0.03702	0.187000	0.23431	0.082000	0.14847	-0.089000	0.12484	0.313000	0.20887	AGC	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362793.1		+	ENST00000504452.1	Missense_Mutation	SNP	4 : 81123374 - 81123374 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	426	61
GPRC5C	55890	broad.mit.edu	37	17	72436648	72436648	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72436648G>A	ENST00000481232.1	+	2	916				GPRC5C_ENST00000392627.1_Missense_Mutation_p.V290M|GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000392629.2_Missense_Mutation_p.V257M			Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	NA						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						TGGGGTCTTTGTGCTCCTCAC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	56	64			NA	NA	17		NA											NA				72436648		2203	4300	6503	SO:0001627	intron_variant			AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412	NA	55890		GPCR / Class C : Orphans	13309	protein-coding gene	gene with protein product		605949	G protein-coupled receptor, family C, group 5, member C		NA	10945465	Standard		NM_022036	NA	Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000481232.1:c.405+463G>A	17.37:g.72436648G>A		NA	B5BUN4|Q2NL85|Q9NZG5	37		.	.	.	.	.	.	.	.	.	.	G	13.28	2.189503	0.38707	.	.	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000392629;ENST00000392628	D	0.88975	-2.45	5.79	3.69	0.42338	GPCR, family 3, C-terminal (2);	0.299751	0.34268	N	0.004116	D	0.88633	0.6489	L	0.48642	1.525	0.37849	D	0.929327	P;P;P	0.42620	0.785;0.785;0.745	P;P;P	0.55345	0.774;0.675;0.664	D	0.88618	0.3161	10	0.87932	D	0	-17.0307	4.3277	0.11048	0.2478:0.174:0.5783:0.0	.	245;245;257	A8MXZ4;Q9NQ84;Q9NQ84-2	.;GPC5C_HUMAN;.	M	245;290;257;245	ENSP00000376405:V257M	ENSP00000340595:V290M	V	+	1	0	GPRC5C	69948243	0.968000	0.33430	0.997000	0.53966	0.348000	0.29142	1.942000	0.40243	1.454000	0.47793	0.561000	0.74099	GTG	GPRC5C-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000145095.2		+	ENST00000481232.1	Intron	SNP	17 : 72436648 - 72436648 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	281	25
CNTLN	54875	broad.mit.edu	37	9	17416182	17416182	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:17416182A>C	ENST00000380647.3	+	18	3193	c.3109A>C	c.(3109-3111)Ata>Cta	p.I1037L	CNTLN_ENST00000262360.5_Missense_Mutation_p.I1037L|CNTLN_ENST00000425824.1_Missense_Mutation_p.I1037L			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1037						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		CAGGCAGACAATAAAGGTAAA	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	60	62			NA	NA	9		NA											NA				17416182		1826	4078	5904	SO:0001583	missense			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459	54875	54875			23432	protein-coding gene	gene with protein product		611870	chromosome 9 open reading frame 101, chromosome 9 open reading frame 39	C9orf101, C9orf39	NA	18086554	Standard	NM_017738	XM_005251492	NA	Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.3109A>C	9.37:g.17416182A>C	ENSP00000370021:p.Ile1037Leu	NA	A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	37	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.271993	0.40194	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.20598	2.06;2.06;2.32	4.95	3.78	0.43462	.	.	.	.	.	T	0.24160	0.0585	M	0.69823	2.125	0.26036	N	0.98168	P;P;P	0.41102	0.627;0.738;0.738	B;B;B	0.42593	0.295;0.392;0.392	T	0.10042	-1.0647	9	0.18276	T	0.48	.	7.152	0.25616	0.8085:0.0:0.1915:0.0	.	1037;1037;1037	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	L	1037	ENSP00000370021:I1037L;ENSP00000392798:I1037L;ENSP00000262360:I1037L	ENSP00000262360:I1037L	I	+	1	0	CNTLN	17406182	0.991000	0.36638	1.000000	0.80357	0.852000	0.48524	2.050000	0.41297	0.803000	0.34113	0.383000	0.25322	ATA	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051793.3		+	ENST00000380647.3	Missense_Mutation	SNP	9 : 17416182 - 17416182 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	21
MOV10	4343	broad.mit.edu	37	1	113242367	113242367	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113242367C>T	ENST00000369644.1	+	19	3505	c.2476C>T	c.(2476-2478)Cga>Tga	p.R826*	MOV10_ENST00000369645.1_Nonsense_Mutation_p.R882*|MOV10_ENST00000357443.2_Nonsense_Mutation_p.R882*|MOV10_ENST00000413052.2_Nonsense_Mutation_p.R882*|MOV10_ENST00000468624.1_3'UTR			Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	882					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CTCCACCGTGCGAAGCAGCCA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	157	155			NA	NA	1		NA											NA				113242367		2203	4300	6503	SO:0001587	stop_gained			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363	4343	4343			7200	protein-coding gene	gene with protein product	functional spliceosome-associated protein 113	610742	Mov10 (Moloney leukemia virus 10, mouse) homolog, Mov10, Moloney leukemia virus 10, homolog (mouse)		NA	12226669	Standard	NM_020963	NM_001286072	NA	Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000369644.1:c.2476C>T	1.37:g.113242367C>T	ENSP00000358658:p.Arg826*	NA	Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	37		.	.	.	.	.	.	.	.	.	.	C	48	14.608624	0.99803	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	.	.	.	5.1	3.18	0.36537	.	0.057790	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9439	9.991	0.41872	0.0:0.7847:0.1389:0.0764	.	.	.	.	X	882;882;826;882;820	.	ENSP00000350028:R882X	R	+	1	2	MOV10	113043890	1.000000	0.71417	0.987000	0.45799	0.926000	0.56050	4.821000	0.62679	0.524000	0.28502	0.467000	0.42956	CGA	MOV10-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000032908.1		+	ENST00000369644.1	Nonsense_Mutation	SNP	1 : 113242367 - 113242367 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1051	113
NCOR2	9612	broad.mit.edu	37	12	124826572	124826572	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124826572G>A	ENST00000405201.1	-	34	4985	c.4985C>T	c.(4984-4986)cCg>cTg	p.P1662L	NCOR2_ENST00000429285.2_Missense_Mutation_p.P1652L|NCOR2_ENST00000397355.1_Missense_Mutation_p.P1653L|NCOR2_ENST00000404621.1_Missense_Mutation_p.P1652L|NCOR2_ENST00000356219.3_Missense_Mutation_p.P1669L|NCOR2_ENST00000404121.2_Missense_Mutation_p.P1223L			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1670					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTACAGGTGCGGGTAGGTGGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	47	44			NA	NA	12		NA											NA				124826572		2065	4190	6255	SO:0001583	missense			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498	9612	9612			7673	protein-coding gene	gene with protein product		600848	nuclear receptor co-repressor 2		NA	7566127, 8813722	Standard	NM_006312	NM_001077261	NA	Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.4985C>T	12.37:g.124826572G>A	ENSP00000384018:p.Pro1662Leu	NA	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	37	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	19.65	3.868059	0.72065	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73	4.23	4.23	0.50019	.	0.065092	0.64402	D	0.000006	T	0.66416	0.2787	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.71823	-0.4476	10	0.87932	D	0	-22.6781	16.6063	0.84830	0.0:0.0:1.0:0.0	.	1652;1653;1662	C9J0Q5;C9J239;C9JFD3	.;.;.	L	1662;1652;1669;1653;1661;1223;1652	ENSP00000384018:P1662L;ENSP00000384202:P1652L;ENSP00000348551:P1669L;ENSP00000380513:P1653L;ENSP00000385618:P1223L;ENSP00000400281:P1652L	ENSP00000348551:P1669L	P	-	2	0	NCOR2	123392525	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.737000	0.84957	1.895000	0.54865	0.491000	0.48974	CCG	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318173.2		-	ENST00000405201.1	Missense_Mutation	SNP	12 : 124826572 - 124826572 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	337	40
EPB41L1	2036	broad.mit.edu	37	20	34782221	34782221	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34782221G>A	ENST00000338074.2	+	12	1549	c.1388G>A	c.(1387-1389)gGg>gAg	p.G463E	EPB41L1_ENST00000373941.1_Missense_Mutation_p.G463E|EPB41L1_ENST00000441639.1_Missense_Mutation_p.G401E|EPB41L1_ENST00000373950.2_Missense_Mutation_p.G366E|EPB41L1_ENST00000373946.3_Missense_Mutation_p.G432E|EPB41L1_ENST00000202028.5_Missense_Mutation_p.G401E	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	463					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GAGTCTGGGGGGCAACGGTCA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	49	56			NA	NA	20		NA											NA				34782221		2203	4300	6503	SO:0001583	missense			AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367	2036	2036			3378	protein-coding gene	gene with protein product		602879			NA	9570967, 9828140	Standard	NM_012156	NM_012156	NA	Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1388G>A	20.37:g.34782221G>A	ENSP00000337168:p.Gly463Glu	NA	O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	37	CCDS13271.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.54|12.54	1.968982|1.968982	0.34754|0.34754	.|.	.|.	ENSG00000088367|ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000344237;ENST00000338074;ENST00000373941|ENST00000451082	D;D;D;D;D;D|.	0.82984|.	-1.67;-1.61;-1.67;-1.64;-1.64;-1.64|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	1.320840|1.320840	0.04653|0.04653	N|N	0.407417|0.407417	T|T	0.58293|0.58293	0.2112|0.2112	N|N	0.14661|0.14661	0.345|0.345	0.44736|0.44736	D|D	0.997732|0.997732	B;B;B;B;P;B|.	0.37423|.	0.006;0.304;0.022;0.002;0.594;0.001|.	B;B;B;B;B;B|.	0.31614|.	0.004;0.036;0.022;0.005;0.133;0.003|.	T|T	0.45556|0.45556	-0.9253|-0.9253	10|7	0.02654|0.46703	T|T	1|0.11	.|.	18.3778|18.3778	0.90441|0.90441	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	463;463;432;366;366;401|.	B7Z653;Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2|.	.;E41L1_HUMAN;.;.;.;.|.	E|S	401;366;463;366;401;432;37;463;463|41	ENSP00000202028:G401E;ENSP00000363061:G366E;ENSP00000399214:G401E;ENSP00000363057:G432E;ENSP00000337168:G463E;ENSP00000363052:G463E|.	ENSP00000202028:G401E|ENSP00000406464:G41S	G|G	+|+	2|1	0|0	EPB41L1|EPB41L1	34245635|34245635	0.991000|0.991000	0.36638|0.36638	0.091000|0.091000	0.20842|0.20842	0.909000|0.909000	0.53808|0.53808	5.449000|5.449000	0.66619|0.66619	2.578000|2.578000	0.87016|0.87016	0.655000|0.655000	0.94253|0.94253	GGG|GGC	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078978.3		+	ENST00000338074.2	Missense_Mutation	SNP	20 : 34782221 - 34782221 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	216	47
DYNC1H1	1778	broad.mit.edu	37	14	102453024	102453024	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102453024C>T	ENST00000360184.4	+	8	2626	c.2462C>T	c.(2461-2463)gCg>gTg	p.A821V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	821	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GAAGGCATTGCGTTGGTGTGG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	105	109			NA	NA	14		NA											NA				102453024		2203	4300	6503	SO:0001583	missense			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102	1778	1778		Cytoplasmic dyneins	2961	protein-coding gene	gene with protein product		600112	dynein, cytoplasmic, heavy polypeptide 1	DNECL, DNCL, DNCH1	NA	16260502, 8666668	Standard	NM_001376	NM_001376	NA	Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.2462C>T	14.37:g.102453024C>T	ENSP00000348965:p.Ala821Val	NA	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536019	0.45176	.	.	ENSG00000197102	ENST00000360184	T	0.56941	0.43	5.52	5.52	0.82312	Dynein heavy chain, domain-1 (1);	0.106999	0.64402	D	0.000004	T	0.45337	0.1337	L	0.40543	1.245	0.54753	D	0.999985	B	0.32051	0.354	B	0.24269	0.052	T	0.31971	-0.9924	10	0.31617	T	0.26	.	19.7987	0.96497	0.0:1.0:0.0:0.0	.	821	Q14204	DYHC1_HUMAN	V	821	ENSP00000348965:A821V	ENSP00000348965:A821V	A	+	2	0	DYNC1H1	101522777	1.000000	0.71417	0.276000	0.24689	0.607000	0.37147	7.425000	0.80255	2.767000	0.95098	0.655000	0.94253	GCG	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414574.1		+	ENST00000360184.4	Missense_Mutation	SNP	14 : 102453024 - 102453024 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	441	89
GALNT5	11227	broad.mit.edu	37	2	158115529	158115529	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:158115529G>A	ENST00000259056.4	+	1	1420	c.935G>A	c.(934-936)gGg>gAg	p.G312E		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	312					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GGGGCTCATGGGAAGAAACTC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	70	68			NA	NA	2		NA											NA				158115529		2203	4299	6502	SO:0001583	missense			AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	11227	11227	2.4.1.41	Glycosyltransferase family 2 domain containing	4127	protein-coding gene	gene with protein product	polypeptide GalNAc transferase 5	615129	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)		NA	10545594	Standard	NM_014568	NM_014568	NA	Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.935G>A	2.37:g.158115529G>A	ENSP00000259056:p.Gly312Glu	NA	Q9UGK7|Q9UHL6	37	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.554576	0.27739	.	.	ENSG00000136542	ENST00000259056	T	0.56611	0.45	5.66	2.83	0.33086	.	3.644830	0.00687	N	0.000710	T	0.37183	0.0994	N	0.24115	0.695	0.26770	N	0.969815	B	0.25719	0.132	B	0.17098	0.017	T	0.28038	-1.0056	10	0.38643	T	0.18	.	1.5072	0.02489	0.1653:0.1536:0.4248:0.2563	.	312	Q7Z7M9	GALT5_HUMAN	E	312	ENSP00000259056:G312E	ENSP00000259056:G312E	G	+	2	0	GALNT5	157823775	0.996000	0.38824	0.499000	0.27577	0.667000	0.39255	0.943000	0.29030	0.834000	0.34852	0.655000	0.94253	GGG	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254925.2		+	ENST00000259056.4	Missense_Mutation	SNP	2 : 158115529 - 158115529 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	592	42
ABCA1	19	broad.mit.edu	37	9	107546610	107546610	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107546610C>A	ENST00000374736.3	-	50	7166	c.6772G>T	c.(6772-6774)Gaa>Taa	p.E2258*		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2258					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ACATAGCTTTCTTTCACTTTC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													193	180	185			NA	NA	9		NA											NA				107546610		2203	4300	6503	SO:0001587	stop_gained			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029	19	19		ATP binding cassette transporters / subfamily A	29	protein-coding gene	gene with protein product	Tangier disease	600046		ABC1, HDLDT1	NA	8088782, 10431236, 10431237, 10431238	Standard	NM_005502	NM_005502	NA	Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.6772G>T	9.37:g.107546610C>A	ENSP00000363868:p.Glu2258*	NA	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	37	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	50	16.076903	0.99853	.	.	ENSG00000165029	ENST00000374736	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.7599	0.96309	0.0:1.0:0.0:0.0	.	.	.	.	X	2258	.	ENSP00000363868:E2258X	E	-	1	0	ABCA1	106586431	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.664000	0.68045	2.752000	0.94435	0.650000	0.86243	GAA	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053491.1		-	ENST00000374736.3	Nonsense_Mutation	SNP	9 : 107546610 - 107546610 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	491	19
MAP3K19	80122	broad.mit.edu	37	2	135743975	135743975	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:135743975C>A	ENST00000375845.3	-	7	2497	c.2467G>T	c.(2467-2469)Gac>Tac	p.D823Y	MAP3K19_ENST00000358371.4_Missense_Mutation_p.D710Y|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.D840Y	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3			mitogen-activated protein kinase kinase kinase 19	NA											NA						TTAGAAATGTCTCTATCACCA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	92	93			NA	NA	2		NA											NA				135743975		2203	4300	6503	SO:0001583	missense			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601	80122	80122		Mitogen-activated protein kinase cascade / Kinase kinase kinases	26249	protein-coding gene	gene with protein product			Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae), yeast Sps1/Ste20-related kinase 4 (S. cerevisiae), YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)	YSK4	NA	12477932	Standard	NM_025052	NM_001282883	NA	Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2467G>T	2.37:g.135743975C>A	ENSP00000365005:p.Asp823Tyr	NA		37	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	C	7.415	0.635618	0.14322	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.76316	-0.95;-0.92;1.36;-1.01	4.87	3.99	0.46301	.	0.406324	0.20823	N	0.085038	T	0.81456	0.4826	L	0.42245	1.32	0.27706	N	0.945617	D;D;D	0.89917	0.999;1.0;0.998	D;D;P	0.69479	0.939;0.964;0.87	T	0.73300	-0.4026	10	0.87932	D	0	.	9.5128	0.39087	0.0:0.8397:0.0:0.1603	.	710;840;823	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	Y	823;710;840;213	ENSP00000365005:D823Y;ENSP00000351140:D710Y;ENSP00000376647:D840Y;ENSP00000392827:D213Y	ENSP00000351140:D710Y	D	-	1	0	YSK4	135460445	0.063000	0.20901	0.066000	0.19879	0.084000	0.17831	1.159000	0.31749	1.261000	0.44149	0.462000	0.41574	GAC	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000158244.1		-	ENST00000375845.3	Missense_Mutation	SNP	2 : 135743975 - 135743975 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	444	48
TNS3	64759	broad.mit.edu	37	7	47342835	47342835	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47342835G>A	ENST00000398879.1	-	22	3536	c.3170C>T	c.(3169-3171)gCg>gTg	p.A1057V	TNS3_ENST00000355730.3_Missense_Mutation_p.A817V|TNS3_ENST00000311160.9_Missense_Mutation_p.A1057V			Q68CZ2	TENS3_HUMAN	tensin 3	1057						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						AGCCCCTGTCGCTGTCAGCGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	20	19			NA	NA	7		NA											NA				47342835		2022	4156	6178	SO:0001583	missense			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205	64759	64759		SH2 domain containing	21616	protein-coding gene	gene with protein product	tumor endothelial marker 6	606825	tensin-like SH2 domain-containing 1	TENS1	NA	11559528	Standard	NM_022748	NM_022748	NA	Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.3170C>T	7.37:g.47342835G>A	ENSP00000381854:p.Ala1057Val	NA	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	37	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	G	10.19	1.283027	0.23392	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.66	2.42	0.29668	.	1.979490	0.02117	N	0.055295	T	0.31827	0.0809	L	0.27053	0.805	0.09310	N	1	B	0.28880	0.226	B	0.20184	0.028	T	0.15954	-1.0419	10	0.22109	T	0.4	-5.5552	2.7835	0.05367	0.2537:0.0:0.5239:0.2224	.	1057	Q68CZ2	TENS3_HUMAN	V	1057;1167;1057;817;513;1160	ENSP00000312143:A1057V;ENSP00000381854:A1057V;ENSP00000347968:A817V;ENSP00000414358:A1160V	ENSP00000312143:A1057V	A	-	2	0	TNS3	47309360	0.033000	0.19621	0.003000	0.11579	0.095000	0.18619	2.044000	0.41241	0.718000	0.32166	0.555000	0.69702	GCG	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157253.1		-	ENST00000398879.1	Missense_Mutation	SNP	7 : 47342835 - 47342835 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	209	20
FLNC	2318	broad.mit.edu	37	7	128470956	128470956	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128470956C>T	ENST00000325888.8	+	1	526	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	FLNC_ENST00000346177.6_Missense_Mutation_p.R89C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	89	Actin-binding.|CH 1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTTCCATCCGCGCCCCAACTT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	61	60			NA	NA	7		NA											NA				128470956		2203	4300	6503	SO:0001583	missense			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591	2318	2318			3756	protein-coding gene	gene with protein product	actin binding protein 280	102565	filamin C, gamma (actin binding protein 280)	FLN2	NA	7689010, 8088838	Standard		NM_001458	NA	Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.265C>T	7.37:g.128470956C>T	ENSP00000327145:p.Arg89Cys	NA	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	37	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586300	0.86851	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.60672	0.17;0.17	4.49	3.59	0.41128	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.75852	0.3906	M	0.87547	2.89	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.77619	-0.2520	10	0.87932	D	0	.	8.9211	0.35612	0.1678:0.6698:0.1624:0.0	.	89;89	Q14315-2;Q14315	.;FLNC_HUMAN	C	89	ENSP00000327145:R89C;ENSP00000344002:R89C	ENSP00000327145:R89C	R	+	1	0	FLNC	128258192	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.195000	0.51013	0.978000	0.38470	0.561000	0.74099	CGC	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059948.3		+	ENST00000325888.8	Missense_Mutation	SNP	7 : 128470956 - 128470956 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	314	10
SIGLEC1	6614	broad.mit.edu	37	20	3673553	3673553	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3673553C>A	ENST00000344754.4	-	14	3733	c.3734G>T	c.(3733-3735)aGc>aTc	p.S1245I	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S1245I	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1245	Ig-like C2-type 12.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCCCAGAGGGCTGCGGGCAGA	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	31	30			NA	NA	20		NA											NA				3673553		2201	4298	6499	SO:0001583	missense			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827	6614	6614		CD molecules, Sialic acid binding Ig-like lectins, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	11127	protein-coding gene	gene with protein product		600751	sialoadhesin	SN	NA	8530048	Standard	NM_023068	XM_006723610	NA	Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3734G>T	20.37:g.3673553C>A	ENSP00000341141:p.Ser1245Ile	NA	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	37	CCDS13060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.57|16.57	3.160567|3.160567	0.57368|0.57368	.|.	.|.	ENSG00000088827|ENSG00000088827	ENST00000419548|ENST00000344754;ENST00000202578	.|T;T	.|0.75477	.|-0.94;-0.94	4.98|4.98	1.38|1.38	0.22167|0.22167	.|Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.|0.335011	.|0.21929	.|N	.|0.067045	T|T	0.80292|0.80292	0.4596|0.4596	M|M	0.67397|0.67397	2.05|2.05	0.31063|0.31063	N|N	0.713953|0.713953	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.79784	.|0.993;0.992	T|T	0.75783|0.75783	-0.3196|-0.3196	5|10	.|0.52906	.|T	.|0.07	.|.	5.6007|5.6007	0.17351|0.17351	0.0:0.5714:0.0:0.4286|0.0:0.5714:0.0:0.4286	.|.	.|1245;1245	.|Q9BZZ2;Q9BZZ2-3	.|SN_HUMAN;.	H|I	58|1245	.|ENSP00000341141:S1245I;ENSP00000202578:S1245I	.|ENSP00000202578:S1245I	Q|S	-|-	3|2	2|0	SIGLEC1|SIGLEC1	3621553|3621553	0.001000|0.001000	0.12720|0.12720	0.969000|0.969000	0.41365|0.41365	0.888000|0.888000	0.51559|0.51559	-0.278000|-0.278000	0.08490|0.08490	0.514000|0.514000	0.28300|0.28300	-0.140000|-0.140000	0.14226|0.14226	CAG|AGC	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077761.2		-	ENST00000344754.4	Missense_Mutation	SNP	20 : 3673553 - 3673553 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	21
LMO1	4004	broad.mit.edu	37	11	8248572	8248572	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8248572C>T	ENST00000335790.3	-	3	810	c.315G>A	c.(313-315)cgG>cgA	p.R105R	LMO1_ENST00000428101.2_Silent_p.R104R|LMO1_ENST00000534484.1_Silent_p.R94R	NM_002315.2	NP_002306.1	P25800	RBTN1_HUMAN	LIM domain only 1 (rhombotin 1)	105	LIM zinc-binding 2.				cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		ACACGTTGTCCCGGGCCCGCA	0.632		NA	T, A	TRD@	T-ALL, neuroblastoma	neuroblastoma								NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Dom	yes		11	11p15	4004	LIM domain only 1 (rhombotin 1) (RBTN1)		L	0													54	62	59			NA	NA	11		NA											NA				8248572		2110	4234	6344	SO:0001819	synonymous_variant			M26682	CCDS44534.1, CCDS58118.1	11p15	2014-09-17			ENSG00000166407	ENSG00000166407	4004	4004			6641	protein-coding gene	gene with protein product		186921		RBTN1	NA	2034676, 1703797	Standard	NM_002315	NM_002315	NA	Approved	TTG1, RHOM1	uc001mgh.2	P25800	OTTHUMG00000165833	ENST00000335790.3:c.315G>A	11.37:g.8248572C>T		NA	Q4VBC5	37	CCDS44534.1																																																																																			LMO1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386503.2		-	ENST00000335790.3	Silent	SNP	11 : 8248572 - 8248572 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	213	32
GPLD1	2822	broad.mit.edu	37	6	24429337	24429337	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24429337C>T	ENST00000230036.1	-	25	2556	c.2446G>A	c.(2446-2448)Gtc>Atc	p.V816I		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	816						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GCAGCAATGACGACTTGGTTC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	70	75			NA	NA	6		NA											NA				24429337		2203	4300	6503	SO:0001583	missense			L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293	2822	2822			4459	protein-coding gene	gene with protein product		602515			NA	11072085	Standard	NM_001503	NM_001503	NA	Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.2446G>A	6.37:g.24429337C>T	ENSP00000230036:p.Val816Ile	NA	Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	37	CCDS4553.1	.	.	.	.	.	.	.	.	.	.	C	8.439	0.850426	0.17034	.	.	ENSG00000112293	ENST00000230036	T	0.69040	-0.37	5.29	4.42	0.53409	.	0.086699	0.48767	N	0.000172	T	0.32526	0.0832	L	0.36672	1.1	0.80722	D	1	B	0.26708	0.157	B	0.15052	0.012	T	0.26744	-1.0094	10	0.08179	T	0.78	-25.2769	12.953	0.58411	0.0:0.9208:0.0:0.0792	.	816	P80108	PHLD_HUMAN	I	816	ENSP00000230036:V816I	ENSP00000230036:V816I	V	-	1	0	GPLD1	24537316	0.998000	0.40836	0.947000	0.38551	0.058000	0.15608	2.947000	0.49058	1.460000	0.47911	0.655000	0.94253	GTC	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043315.1		-	ENST00000230036.1	Missense_Mutation	SNP	6 : 24429337 - 24429337 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	163	28
SERPINE2	5270	broad.mit.edu	37	2	224866571	224866571	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:224866571G>T	ENST00000409840.3	-	3	707	c.47C>A	c.(46-48)cCt>cAt	p.P16H	SERPINE2_ENST00000447280.2_Missense_Mutation_p.P28H|SERPINE2_ENST00000258405.4_Missense_Mutation_p.P16H|SERPINE2_ENST00000409304.1_Missense_Mutation_p.P16H			P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	16					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GCAGATGGAAGGCAGCGTCAC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	114	110			NA	NA	2		NA											NA				224866571		2203	4300	6503	SO:0001583	missense			M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919	5270	5270		Serine (or cysteine) peptidase inhibitors	8951	protein-coding gene	gene with protein product	glial-derived nexin 1	177010	serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	PI7	NA	7665170, 24172014	Standard	NM_006216	NM_006216	NA	Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000409840.3:c.47C>A	2.37:g.224866571G>T	ENSP00000386969:p.Pro16His	NA	B2R6A4|Q53S15|Q5D0C4	37	CCDS46526.1	.	.	.	.	.	.	.	.	.	.	G	9.011	0.982535	0.18889	.	.	ENSG00000135919	ENST00000409304;ENST00000258405;ENST00000409840;ENST00000447280;ENST00000432738;ENST00000454956;ENST00000423446	D;T;D;D;T;D	0.84730	-1.88;-0.89;-1.88;-1.89;-1.48;-1.61	5.17	4.28	0.50868	Serpin domain (1);	0.803013	0.11963	N	0.512566	T	0.68997	0.3062	N	0.08118	0	0.09310	N	1	P;P	0.35923	0.528;0.528	B;B	0.33521	0.165;0.165	T	0.55515	-0.8129	10	0.15066	T	0.55	.	10.7667	0.46297	0.0706:0.0:0.7983:0.1311	.	28;16	B4DIF2;P07093	.;GDN_HUMAN	H	16;16;16;28;16;16;16	ENSP00000386412:P16H;ENSP00000258405:P16H;ENSP00000386969:P16H;ENSP00000415786:P28H;ENSP00000408452:P16H;ENSP00000399655:P16H	ENSP00000258405:P16H	P	-	2	0	SERPINE2	224574815	0.995000	0.38212	0.228000	0.23943	0.098000	0.18820	3.601000	0.54059	1.269000	0.44280	0.655000	0.94253	CCT	SERPINE2-003	NOVEL	alternative_5_UTR|basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330900.1		-	ENST00000409840.3	Missense_Mutation	SNP	2 : 224866571 - 224866571 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	654	92
KIAA0195	9772	broad.mit.edu	37	17	73495073	73495073	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73495073A>G	ENST00000314256.7	+	31	4302	c.3908A>G	c.(3907-3909)gAg>gGg	p.E1303G	KIAA0195_ENST00000579208.1_Missense_Mutation_p.E954G|KIAA0195_ENST00000375248.5_Missense_Mutation_p.E1313G	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1303					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTTGGCCTGGAGGACGTGCCC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	76	83			NA	NA	17		NA											NA				73495073		2203	4300	6503	SO:0001583	missense				CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728	9772	9772			28983	protein-coding gene	gene with protein product					NA	8724849	Standard	NM_014738	NM_014738	NA	Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.3908A>G	17.37:g.73495073A>G	ENSP00000313885:p.Glu1303Gly	NA	O75536|Q86XF1	37	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.311005	0.40895	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.95980	-3.87;-3.87	5.88	3.6	0.41247	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.432209	0.25267	N	0.031907	D	0.82820	0.5120	N	0.01705	-0.755	0.21719	N	0.999576	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.001	T	0.70722	-0.4794	10	0.13108	T	0.6	-14.9627	6.6047	0.22720	0.7138:0.1475:0.1387:0.0	.	1313;1313;1333;1303	B4DGC6;C9JL75;Q12767-2;Q12767	.;.;.;K0195_HUMAN	G	1303;1313	ENSP00000313885:E1303G;ENSP00000364397:E1313G	ENSP00000313885:E1303G	E	+	2	0	KIAA0195	71006668	0.445000	0.25657	1.000000	0.80357	0.955000	0.61496	1.345000	0.33953	2.246000	0.74042	0.533000	0.62120	GAG	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447303.1		+	ENST00000314256.7	Missense_Mutation	SNP	17 : 73495073 - 73495073 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	321	12
TMTC1	83857	broad.mit.edu	37	12	29709921	29709921	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29709921G>T	ENST00000256062.5	-	10	1694	c.1221C>A	c.(1219-1221)cgC>cgA	p.R407R	TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000381224.2_Silent_p.R469R|TMTC1_ENST00000552618.1_Silent_p.R539R|TMTC1_ENST00000551659.1_Silent_p.R577R|TMTC1_ENST00000539277.1_Silent_p.R515R	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	515						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CACTTGCATGGCGTGGATACA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	137	143			NA	NA	12		NA											NA				29709921		2203	4300	6503	SO:0001819	synonymous_variant				CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687	83857	83857		Tetratricopeptide (TTC) repeat domain containing	24099	protein-coding gene	gene with protein product		615855			NA	24764305	Standard	NM_031920	NM_001193451	NA	Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000256062.5:c.1221C>A	12.37:g.29709921G>T		NA	D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	37	CCDS8718.1																																																																																			TMTC1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403503.1		-	ENST00000256062.5	Silent	SNP	12 : 29709921 - 29709921 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	401	74
WDR78	79819	broad.mit.edu	37	1	67299780	67299780	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67299780T>C	ENST00000371026.3	-	12	1840	c.1785A>G	c.(1783-1785)gaA>gaG	p.E595E	WDR78_ENST00000431318.1_Silent_p.E341E	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	595										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CTCGATCTTGTTCTATCCACT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	95	96			NA	NA	1		NA											NA				67299780		2203	4300	6503	SO:0001819	synonymous_variant			BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763	79819	79819		WD repeat domain containing	26252	protein-coding gene	gene with protein product					NA	21953912	Standard	NM_024763	NM_207014	NA	Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.1785A>G	1.37:g.67299780T>C		NA	A8K9W5|B5MDT3|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	37	CCDS635.1																																																																																			WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025404.1		-	ENST00000371026.3	Silent	SNP	1 : 67299780 - 67299780 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	195	42
SPARCL1	8404	broad.mit.edu	37	4	88415481	88415481	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88415481G>T	ENST00000503414.1	-	5	638	c.96C>A	c.(94-96)atC>atA	p.I32I	SPARCL1_ENST00000282470.6_Silent_p.I157I|SPARCL1_ENST00000418378.1_Silent_p.I157I			Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	157	O-glycosylated at two sites.				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		CTCTCTTTGTGATACTTTCTT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	159	161			NA	NA	4		NA											NA				88415481		2203	4300	6503	SO:0001819	synonymous_variant			X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583	8404	8404		EF-hand domain containing	11220	protein-coding gene	gene with protein product		606041	SPARC-like 1 (mast9, hevin)		NA	8488563, 7600298, 16844696	Standard		NM_001128310	NA	Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000503414.1:c.96C>A	4.37:g.88415481G>T		NA	Q14800	37																																																																																				SPARCL1-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000363611.2		-	ENST00000503414.1	Silent	SNP	4 : 88415481 - 88415481 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	828	145
DAO	1610	broad.mit.edu	37	12	109278930	109278930	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109278930G>A	ENST00000551281.1	+	2	261	c.148G>A	c.(148-150)Ggc>Agc	p.G50S	DAO_ENST00000228476.3_Missense_Mutation_p.G50S			P14920	OXDA_HUMAN	D-amino-acid oxidase	50					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						CGTGGCTGCCGGCCTCTGGCA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	72	71			NA	NA	12		NA											NA				109278930		2203	4300	6503	SO:0001583	missense			D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1610	1610	1.4.3.3		2671	protein-coding gene	gene with protein product		124050			NA	1356107, 8182053	Standard		NM_001917	NA	Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000551281.1:c.148G>A	12.37:g.109278930G>A	ENSP00000446853:p.Gly50Ser	NA	B2R7I5|Q16758|Q8N6R2	37		.	.	.	.	.	.	.	.	.	.	G	20.3	3.959338	0.74016	.	.	ENSG00000110887	ENST00000551281;ENST00000228476;ENST00000547166	D;D;D	0.86956	-2.19;-2.19;-2.19	5.58	5.58	0.84498	FAD dependent oxidoreductase (1);NAD(P)-binding domain (1);	0.046434	0.85682	D	0.000000	D	0.94621	0.8266	M	0.89030	3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94898	0.8054	10	0.59425	D	0.04	-7.3957	18.1463	0.89656	0.0:0.0:1.0:0.0	.	50;50	P14920;Q7Z312	OXDA_HUMAN;.	S	50	ENSP00000446853:G50S;ENSP00000228476:G50S;ENSP00000447104:G50S	ENSP00000228476:G50S	G	+	1	0	DAO	107803059	1.000000	0.71417	0.959000	0.39883	0.028000	0.11728	9.777000	0.99008	2.628000	0.89032	0.591000	0.81541	GGC	DAO-006	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000403680.1		+	ENST00000551281.1	Missense_Mutation	SNP	12 : 109278930 - 109278930 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	827	117
NAV2	89797	broad.mit.edu	37	11	20066559	20066559	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20066559C>T	ENST00000396085.1	+	14	3606	c.3245C>T	c.(3244-3246)cCt>cTt	p.P1082L	NAV2_ENST00000527559.2_Missense_Mutation_p.P1034L|NAV2_ENST00000311043.8_Missense_Mutation_p.P168L|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000349880.4_Missense_Mutation_p.P1082L|NAV2_ENST00000540292.1_Missense_Mutation_p.P1036L|NAV2_ENST00000533917.1_Missense_Mutation_p.P168L|NAV2_ENST00000396087.3_Missense_Mutation_p.P1105L|NAV2_ENST00000360655.4_Missense_Mutation_p.P1018L	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1105						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGGCTTTCTCCTAAAGCCTCC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	50	51			NA	NA	11		NA											NA				20066559		2203	4300	6503	SO:0001583	missense			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	89797	89797	3.6.1.1		15997	protein-coding gene	gene with protein product	pore membrane and/or filament interacting like protein 2, retinoic acid inducible gene in neuroblastoma 1, helicase, APC down-regulated 1	607026			NA	12079279, 12062803	Standard	NM_145117	NM_145117	NA	Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396085.1:c.3245C>T	11.37:g.20066559C>T	ENSP00000379394:p.Pro1082Leu	NA	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	37	CCDS7851.2	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404617	0.62288	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	T;T;T;T;T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000004	T	0.39036	0.1063	N	0.24115	0.695	0.80722	D	1	D;D;D;B;D	0.89917	1.0;1.0;1.0;0.166;1.0	D;D;D;B;D	0.91635	0.999;0.999;0.999;0.108;0.999	T	0.08513	-1.0718	9	.	.	.	.	19.6575	0.95849	0.0:1.0:0.0:0.0	.	1105;168;168;1082;1018	Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	NAV2_HUMAN;.;.;.;.	L	1018;1082;1082;1105;1034;1036;168;168;168;168	ENSP00000353871:P1018L;ENSP00000379394:P1082L;ENSP00000309577:P1082L;ENSP00000379396:P1105L;ENSP00000435395:P1034L;ENSP00000443489:P1036L;ENSP00000437316:P168L;ENSP00000437136:P168L;ENSP00000312169:P168L	.	P	+	2	0	NAV2	20023135	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	7.776000	0.85560	2.728000	0.93425	0.650000	0.86243	CCT	NAV2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324113.1		+	ENST00000396085.1	Missense_Mutation	SNP	11 : 20066559 - 20066559 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	64
SLC25A28	81894	broad.mit.edu	37	10	101370678	101370678	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101370678G>A	ENST00000370495.4	-	4	1051	c.1023C>T	c.(1021-1023)atC>atT	p.I341I		NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	341					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		CAGACCATGCGATGGCTGTGG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	111	112			NA	NA	10		NA											NA				101370678		1936	4127	6063	SO:0001819	synonymous_variant			AF327402	CCDS41559.1	10q24.2	2013-05-22	2012-03-29		ENSG00000155287	ENSG00000155287	81894	81894		Solute carriers	23472	protein-coding gene	gene with protein product	mitoferrin 2	609767	solute carrier family 25, member 28		NA	11297739	Standard	NM_031212	NM_031212	NA	Approved	MRS3/4, MRS4L	uc001kpx.2	Q96A46	OTTHUMG00000018886	ENST00000370495.4:c.1023C>T	10.37:g.101370678G>A		NA	Q4VBZ0|Q5T777|Q86VX5|Q969G8|Q9H2J3	37	CCDS41559.1																																																																																			SLC25A28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049801.1		-	ENST00000370495.4	Silent	SNP	10 : 101370678 - 101370678 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	501	52
HMCN1	83872	broad.mit.edu	37	1	185894259	185894259	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:185894259C>A	ENST00000271588.4	+	9	1595	c.1366C>A	c.(1366-1368)Ctt>Att	p.L456I	HMCN1_ENST00000367492.2_Missense_Mutation_p.L456I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	456	Ig-like C2-type 1.				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						TGTTGACAGTCTTTTGCCCTT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	134	140			NA	NA	1		NA											NA				185894259		2203	4300	6503	SO:0001583	missense			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.1366C>A	1.37:g.185894259C>A	ENSP00000271588:p.Leu456Ile	NA	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009139	0.54361	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.39056	1.1;1.1	5.89	3.01	0.34805	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.129749	0.53938	D	0.000058	T	0.33469	0.0864	L	0.50333	1.59	0.42086	D	0.99127	P	0.41393	0.748	B	0.37346	0.247	T	0.05533	-1.0879	10	0.20519	T	0.43	.	11.5853	0.50914	0.0:0.8074:0.0:0.1926	.	456	Q96RW7	HMCN1_HUMAN	I	456	ENSP00000271588:L456I;ENSP00000356462:L456I	ENSP00000271588:L456I	L	+	1	0	HMCN1	184160882	0.998000	0.40836	0.962000	0.40283	0.993000	0.82548	0.894000	0.28350	0.396000	0.25283	0.655000	0.94253	CTT	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131848.1		+	ENST00000271588.4	Missense_Mutation	SNP	1 : 185894259 - 185894259 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	24
ATRIP	84126	broad.mit.edu	37	3	48506304	48506304	+	Silent	SNP	C	C	T	rs3135938		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48506304C>T	ENST00000412052.1	+	12	2313	c.1851C>T	c.(1849-1851)acC>acT	p.T617T	ATRIP_ENST00000346691.4_Silent_p.T683T|ATRIP_ENST00000357105.6_Silent_p.T583T|ATRIP_ENST00000320211.3_Silent_p.T710T	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	710					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCCAAGGACCGACCAGCAGA	0.642		NA						Other conserved DNA damage response genes					C	1	5e-04	0.002	NA	2184	NA	0.9998	,	,	NA	3e-04	NA	NA	NA	5e-04	0.8271	EXOME	NA	NA	7e-04	SNP								NA				0													57	51	53			NA	NA	3		NA											NA				48506304		2203	4300	6503	SO:0001819	synonymous_variant			AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053	84126	84126			33499	protein-coding gene	gene with protein product		606605			NA	11721054	Standard	NM_130384	NM_130384	NA	Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000412052.1:c.1851C>T	3.37:g.48506304C>T		NA	A8K6A3|A8K714|B2RCE7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	37	CCDS59449.1																																																																																			ATRIP-005	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344694.2		+	ENST00000412052.1	Silent	SNP	3 : 48506304 - 48506304 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	246	42
THOP1	7064	broad.mit.edu	37	19	2790603	2790603	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2790603G>A	ENST00000307741.6	+	2	404	c.201G>A	c.(199-201)gcG>gcA	p.A67A		NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	67					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		CGCTCAAGGCGCTGGCCGATG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4405	2.1+/-5.4	0,1,2202	70	57	61		201	-7.6	1	19		61	0,8600		0,0,4300	no	coding-synonymous	THOP1	NM_003249.3		0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077		67/690	2790603	1,13005	2203	4300	6503	SO:0001819	synonymous_variant				CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	7064	7064	3.4.24.15		11793	protein-coding gene	gene with protein product		601117			NA	9790774	Standard		NM_003249	NA	Approved		uc002lwj.3	P52888		ENST00000307741.6:c.201G>A	19.37:g.2790603G>A		NA	Q9UCB3	37	CCDS12095.1																																																																																			THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451587.2		+	ENST00000307741.6	Silent	SNP	19 : 2790603 - 2790603 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	293	28
LRP4	4038	broad.mit.edu	37	11	46914620	46914620	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46914620C>A	ENST00000378623.1	-	13	1843	c.1601G>T	c.(1600-1602)aGg>aTg	p.R534M		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	534					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CACCTCAATCCTCGAGGTGCC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	46	48			NA	NA	11		NA											NA				46914620		2201	4299	6500	SO:0001583	missense			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569	4038	4038		Low density lipoprotein receptors	6696	protein-coding gene	gene with protein product		604270			NA	9693030	Standard	NM_002334	NM_002334	NA	Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.1601G>T	11.37:g.46914620C>A	ENSP00000367888:p.Arg534Met	NA	B2RN39|Q4AC85|Q5KTZ5	37	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047028	0.93740	.	.	ENSG00000134569	ENST00000378623	D	0.95980	-3.87	5.73	5.73	0.89815	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.98021	0.9348	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98370	1.0553	10	0.72032	D	0.01	.	19.9017	0.96988	0.0:1.0:0.0:0.0	.	534	O75096	LRP4_HUMAN	M	534	ENSP00000367888:R534M	ENSP00000367888:R534M	R	-	2	0	LRP4	46871196	1.000000	0.71417	0.974000	0.42286	0.902000	0.53008	7.487000	0.81328	2.707000	0.92482	0.561000	0.74099	AGG	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391133.1		-	ENST00000378623.1	Missense_Mutation	SNP	11 : 46914620 - 46914620 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	196	41
IL6ST	3572	broad.mit.edu	37	5	55260120	55260120	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55260120T>C	ENST00000381298.2	-	6	824	c.512A>G	c.(511-513)gAt>gGt	p.D171G	IL6ST_ENST00000381287.4_Missense_Mutation_p.D171G|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000502326.3_Missense_Mutation_p.D171G|IL6ST_ENST00000381294.3_Missense_Mutation_p.D171G|IL6ST_ENST00000522633.2_Missense_Mutation_p.D171G|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000336909.5_Missense_Mutation_p.D171G|IL6ST_ENST00000396816.1_Missense_Mutation_p.I29V|IL6ST_ENST00000536319.1_Missense_Mutation_p.D171G|IL6ST_ENST00000577363.1_5'UTR	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	171	Fibronectin type-III 1.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TGCTTTGCAATCAGCAAACTT	0.358		NA	O		hepatocellular ca									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		5	5q11	3572	interleukin 6 signal transducer (gp130, oncostatin M receptor)		E	0													85	77	79			NA	NA	5		NA											NA				55260120		2203	4300	6503	SO:0001583	missense			M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352	3572	3572		Interleukins and interleukin receptors, CD molecules, Fibronectin type III domain containing	6021	protein-coding gene	gene with protein product	gp130, oncostatin M receptor	600694	interleukin 6 signal transducer (gp130, oncostatin M receptor)		NA	2261637	Standard	NM_002184	NM_002184	NA	Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.512A>G	5.37:g.55260120T>C	ENSP00000370698:p.Asp171Gly	NA	A0N0L4|Q9UQ41	37	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	T	15.52	2.858626	0.51376	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294;ENST00000381287;ENST00000536319;ENST00000522633;ENST00000542298	D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.65	5.65	0.86999	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.547899	0.20309	N	0.094861	D	0.88599	0.6480	M	0.66939	2.045	0.30165	N	0.801841	D;P;P	0.58970	0.984;0.955;0.907	P;P;P	0.61477	0.889;0.754;0.677	D	0.85066	0.0937	10	0.27082	T	0.32	.	16.0399	0.80667	0.0:0.0:0.0:1.0	.	171;171;171	Q5FC04;P40189-2;P40189	.;.;IL6RB_HUMAN	G	171	ENSP00000370698:D171G;ENSP00000338799:D171G;ENSP00000370694:D171G;ENSP00000370687:D171G;ENSP00000444456:D171G;ENSP00000435399:D171G	ENSP00000338799:D171G	D	-	2	0	IL6ST	55295877	1.000000	0.71417	0.959000	0.39883	0.079000	0.17450	4.080000	0.57620	2.371000	0.80710	0.533000	0.62120	GAT	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214146.3		-	ENST00000381298.2	Missense_Mutation	SNP	5 : 55260120 - 55260120 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	233	42
DMBT1	1755	broad.mit.edu	37	10	124395524	124395524	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124395524A>C	ENST00000338354.3	+	50	6285	c.6179A>C	c.(6178-6180)aAc>aCc	p.N2060T	DMBT1_ENST00000359586.6_Missense_Mutation_p.N780T|DMBT1_ENST00000344338.3_Missense_Mutation_p.N2050T|DMBT1_ENST00000368956.2_Missense_Mutation_p.N1432T|DMBT1_ENST00000368909.3_Missense_Mutation_p.N2060T|DMBT1_ENST00000368955.3_Missense_Mutation_p.N2050T|DMBT1_ENST00000330163.4_Missense_Mutation_p.N1432T			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2060	CUB 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGTGGCTGCAACTATGATTAT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(182;93 2026 18125 22222 38972)							NA				0													116	112	113			NA	NA	10		NA											NA				124395524		1974	4143	6117	SO:0001583	missense				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908	1755	1755			2926	protein-coding gene	gene with protein product		601969			NA	9288095, 17548659	Standard	NM_004406	NM_004406	NA	Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.6179A>C	10.37:g.124395524A>C	ENSP00000342210:p.Asn2060Thr	NA	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	37		.	.	.	.	.	.	.	.	.	.	A	8.904	0.957041	0.18507	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7;1.7	5.41	-2.7	0.06004	CUB (5);	2.122320	0.02507	N	0.091111	T	0.19525	0.0469	N	0.24115	0.695	0.09310	N	1	P;B;B;P;B;B;B	0.46142	0.676;0.213;0.386;0.873;0.05;0.05;0.062	B;B;B;B;B;B;B	0.42282	0.254;0.06;0.124;0.382;0.049;0.049;0.081	T	0.33317	-0.9873	10	0.29301	T	0.29	.	10.5743	0.45219	0.4977:0.0:0.5023:0.0	.	780;2040;1309;2189;1432;2050;2060	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	T	2060;2189;2060;2060;2060;2059;1432;2050;1432;1432;2060;2050;1432;206;780	ENSP00000342210:N2060T;ENSP00000343175:N2050T;ENSP00000327747:N1432T;ENSP00000357905:N2060T;ENSP00000357951:N2050T;ENSP00000357952:N1432T;ENSP00000352593:N780T	ENSP00000331522:N1432T	N	+	2	0	DMBT1	124385514	0.000000	0.05858	0.013000	0.15412	0.431000	0.31685	-0.947000	0.03901	-0.414000	0.07495	-0.376000	0.06991	AAC	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000050792.2		+	ENST00000338354.3	Missense_Mutation	SNP	10 : 124395524 - 124395524 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	335	75
MAPK8	5599	broad.mit.edu	37	10	49612896	49612896	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:49612896G>A	ENST00000374189.1	+	3	305	c.124G>A	c.(124-126)Gca>Aca	p.A42T	MAPK8_ENST00000360332.3_Splice_Site_p.A42T|MAPK8_ENST00000374182.3_Splice_Site_p.A42T|MAPK8_ENST00000395611.3_Splice_Site_p.A42T|MAPK8_ENST00000374174.1_Splice_Site_p.A42T			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	42	Protein kinase.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|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	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		TTATTACAGCGCAGCTTATGA	0.373		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	10		NA											NA				49612896		2203	4300	6503	SO:0001630	splice_region_variant			L26318	CCDS7223.1, CCDS7224.1, CCDS7225.1, CCDS7226.1, CCDS60527.1	10q11	2011-06-09			ENSG00000107643	ENSG00000107643	5599	5599	2.7.11.1	Mitogen-activated protein kinase cascade / Kinases	6881	protein-coding gene	gene with protein product	JUN N-terminal kinase	601158		PRKM8	NA	8137421, 8654373	Standard		NM_002750	NA	Approved	JNK, JNK1, SAPK1	uc001jgp.3	P45983	OTTHUMG00000018172	ENST00000374189.1:c.123-1G>A	10.37:g.49612896G>A		NA	B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713	37	CCDS7224.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622515	0.87460	.	.	ENSG00000107643	ENST00000432379;ENST00000374189;ENST00000426557;ENST00000374182;ENST00000374179;ENST00000360332;ENST00000374176;ENST00000374174;ENST00000395611	D;D;D;D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	5.64	5.64	0.86602	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.056698	0.64402	D	0.000001	D	0.88833	0.6544	L	0.48260	1.515	0.80722	D	1	P;D;D;D;D	0.76494	0.951;0.999;0.995;0.999;0.999	P;D;D;D;D	0.68621	0.717;0.932;0.932;0.959;0.932	D	0.88888	0.3344	10	0.87932	D	0	.	19.8946	0.96949	0.0:0.0:1.0:0.0	.	42;42;42;42;42	Q308M2;P45983-2;P45983;A1L4K2;P45983-3	.;.;MK08_HUMAN;.;.	T	42	ENSP00000387936:A42T;ENSP00000363304:A42T;ENSP00000397729:A42T;ENSP00000363297:A42T;ENSP00000363294:A42T;ENSP00000353483:A42T;ENSP00000363291:A42T;ENSP00000363289:A42T;ENSP00000378974:A42T	ENSP00000353483:A42T	A	+	1	0	MAPK8	49282902	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	6.724000	0.74747	2.937000	0.99478	0.650000	0.86243	GCA	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047931.1	Missense_Mutation	+	ENST00000374189.1	Splice_Site	SNP	10 : 49612896 - 49612896 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	53
LRRC2	79442	broad.mit.edu	37	3	46580536	46580536	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46580536G>A	ENST00000395905.3	-	4	881	c.489C>T	c.(487-489)atC>atT	p.I163I	LRRC2_ENST00000296144.3_Splice_Site_p.I163I	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	163										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		TTGACATACCGATTTCTGCTG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	114	119			NA	NA	3		NA											NA				46580536		2203	4300	6503	SO:0001630	splice_region_variant			AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827	79442	79442			14676	protein-coding gene	gene with protein product		607180	leucine-rich repeat-containing 2		NA	11896456	Standard		NM_024512	NA	Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.490+1C>T	3.37:g.46580536G>A		NA	B2RDQ7|Q96LT5	37	CCDS2741.1																																																																																			LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257375.2	Silent	-	ENST00000395905.3	Splice_Site	SNP	3 : 46580536 - 46580536 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	74
MUC6	4588	broad.mit.edu	37	11	1029525	1029525	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1029525C>A	ENST00000421673.2	-	9	1156	c.1106G>T	c.(1105-1107)gGg>gTg	p.G369V		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	369					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTGACCTCCCCGGGGGCATA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	44	42			NA	NA	11		NA											NA				1029525		1959	4122	6081	SO:0001583	missense			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956	4588	4588		Mucins	7517	protein-coding gene	gene with protein product		158374	mucin 6, gastric		NA	7680650	Standard	XM_290540	NM_005961	NA	Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.1106G>T	11.37:g.1029525C>A	ENSP00000406861:p.Gly369Val	NA	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	c	19.06	3.753864	0.69648	.	.	ENSG00000184956	ENST00000421673	T	0.74421	-0.84	3.84	2.92	0.33932	.	0.000000	0.31257	U	0.007963	D	0.89051	0.6605	H	0.96398	3.815	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	D	0.90475	0.4456	10	0.87932	D	0	.	10.9721	0.47444	0.0:0.9048:0.0:0.0952	.	369	Q6W4X9	MUC6_HUMAN	V	369	ENSP00000406861:G369V	ENSP00000406861:G369V	G	-	2	0	MUC6	1019525	0.998000	0.40836	0.267000	0.24556	0.028000	0.11728	6.200000	0.72118	0.920000	0.36970	0.457000	0.33378	GGG	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382120.2		-	ENST00000421673.2	Missense_Mutation	SNP	11 : 1029525 - 1029525 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	177	14
MAFF	23764	broad.mit.edu	37	22	38610487	38610487	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38610487T>C	ENST00000338483.2	+	3	459	c.97T>C	c.(97-99)Tcg>Ccg	p.S33P	MAFF_ENST00000426621.2_Missense_Mutation_p.S33P|MAFF_ENST00000538999.1_Missense_Mutation_p.S4P|MAFF_ENST00000538320.1_Missense_Mutation_p.S33P|MAFF_ENST00000407965.1_Missense_Mutation_p.S33P			Q9ULX9	MAFF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F	33					blood coagulation|parturition|transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|skin(1)	3	Melanoma(58;0.045)					GATGGGGCTGTCGGTGCGCGA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	19	19			NA	NA	22		NA											NA				38610487		2142	4215	6357	SO:0001583	missense			AJ010857	CCDS13968.1, CCDS54528.1	22q13.1	2013-07-09	2013-07-09		ENSG00000185022	ENSG00000185022	23764	23764			6780	protein-coding gene	gene with protein product		604877			NA	10591208	Standard	NM_001161572	NM_012323	NA	Approved	hMafF	uc011anr.2	Q9ULX9	OTTHUMG00000151163	ENST00000338483.2:c.97T>C	22.37:g.38610487T>C	ENSP00000345393:p.Ser33Pro	NA	Q9Y525	37	CCDS13968.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.644350	0.87859	.	.	ENSG00000185022	ENST00000338483;ENST00000538320;ENST00000538999;ENST00000441709;ENST00000417948;ENST00000426621;ENST00000407965	D;D;D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97;-2.97;-2.97	3.92	3.92	0.45320	Maf transcription factor (1);Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);	0.077114	0.53938	D	0.000044	D	0.95127	0.8421	M	0.76838	2.35	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.93992	0.7268	10	0.32370	T	0.25	-5.0985	12.7691	0.57410	0.0:0.0:0.0:1.0	.	33	Q9ULX9	MAFF_HUMAN	P	33;33;4;4;33;33;33	ENSP00000345393:S33P;ENSP00000442060:S33P;ENSP00000441482:S4P;ENSP00000391589:S4P;ENSP00000416493:S33P;ENSP00000388882:S33P;ENSP00000384094:S33P	ENSP00000345393:S33P	S	+	1	0	MAFF	36940433	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.154000	0.71826	1.404000	0.46819	0.374000	0.22700	TCG	MAFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321624.1		+	ENST00000338483.2	Missense_Mutation	SNP	22 : 38610487 - 38610487 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	210	25
CALU	813	broad.mit.edu	37	7	128407587	128407587	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128407587C>T	ENST00000542996.2	+	7	1688	c.745C>T	c.(745-747)Cgg>Tgg	p.R249W	CALU_ENST00000479257.1_Missense_Mutation_p.R249W|CALU_ENST00000449187.2_Missense_Mutation_p.R241W|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000535011.2_Intron|CALU_ENST00000249364.4_Missense_Mutation_p.R241W|CALU_ENST00000538546.1_Missense_Mutation_p.R90W	NM_001199672.1	NP_001186601.1	O43852	CALU_HUMAN	calumenin	241	EF-hand 5.				platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding			kidney(2)|large_intestine(3)|lung(5)	10						TGTTGAGTTTCGGGATAAGAA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,	0,4406		0,0,2203	186	175	179		721,745,745,268,721,	5.4	1	7		179	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense,intron	CALU	NM_001130674.2,NM_001199671.1,NM_001199672.1,NM_001199674.1,NM_001219.4,NM_001199673.1	101,101,101,101,101,	0,2,6501	TT,TC,CC	NA	0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,	241/316,249/324,249/324,90/165,241/316,	128407587	2,13004	2203	4300	6503	SO:0001583	missense			AF013759	CCDS5805.1, CCDS47703.1, CCDS56506.1, CCDS56507.1, CCDS56508.1	7q32	2013-01-10			ENSG00000128595	ENSG00000128595	813	813		EF-hand domain containing	1458	protein-coding gene	gene with protein product		603420			NA	9598325	Standard	NM_001219	NM_001219	NA	Approved		uc003vnq.3	O43852	OTTHUMG00000158274	ENST00000542996.2:c.745C>T	7.37:g.128407587C>T	ENSP00000438248:p.Arg249Trp	NA	O60456|Q6FHB9|Q96RL3|Q9NR43	37	CCDS56507.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.943568|3.943568	0.73672|0.73672	0.0|0.0	2.33E-4|2.33E-4	ENSG00000128595|ENSG00000128595	ENST00000542996;ENST00000538546;ENST00000249364;ENST00000449187;ENST00000479257|ENST00000493278	T;T;T;T;T|.	0.54866|.	0.55;0.55;0.55;0.55;0.55|.	5.44|5.44	5.44|5.44	0.79542|0.79542	EF-hand-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.82130|0.82130	0.4970|0.4970	M|M	0.93197|0.93197	3.39|3.39	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	D|D	0.86073|0.86073	0.1539|0.1539	10|5	0.39692|.	T|.	0.17|.	-2.4976|-2.4976	11.8068|11.8068	0.52161|0.52161	0.1753:0.8247:0.0:0.0|0.1753:0.8247:0.0:0.0	.|.	249;241|.	D6QS48;O43852|.	.;CALU_HUMAN|.	W|L	249;90;241;241;249|72	ENSP00000438248:R249W;ENSP00000438994:R90W;ENSP00000249364:R241W;ENSP00000408838:R241W;ENSP00000420381:R249W|.	ENSP00000249364:R241W|.	R|S	+|+	1|2	2|0	CALU|CALU	128194823|128194823	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	2.578000|2.578000	0.46051|0.46051	2.561000|2.561000	0.86390|0.86390	0.563000|0.563000	0.77884|0.77884	CGG|TCG	CALU-005	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000470111.1		+	ENST00000542996.2	Missense_Mutation	SNP	7 : 128407587 - 128407587 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	383	68
AMICA1	120425	broad.mit.edu	37	11	118068807	118068807	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118068807C>A	ENST00000533261.1	-	7	903		c.e7-1		AMICA1_ENST00000356289.5_Splice_Site|AMICA1_ENST00000526620.1_Splice_Site|AMICA1_ENST00000292067.7_Splice_Site			Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	NA					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ATTCACTGAACTGCAAGACAT	0.443		NA									OREG0021382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	133	137			NA	NA	11		NA											NA				118068807		2200	4296	6496	SO:0001630	splice_region_variant			AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593	120425	120425		Immunoglobulin superfamily / V-set domain containing	19084	protein-coding gene	gene with protein product		609770			NA	12975309	Standard	NM_153206	NM_001098526	NA	Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000533261.1:c.879-1G>T	11.37:g.118068807C>A		1485	B0YIV1|B0YIV2|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	37		.	.	.	.	.	.	.	.	.	.	C	12.25	1.880212	0.33162	.	.	ENSG00000160593	ENST00000356289;ENST00000292067;ENST00000533261;ENST00000526620	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9351	0.52868	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AMICA1	117574017	0.983000	0.35010	0.958000	0.39756	0.021000	0.10359	3.018000	0.49625	2.527000	0.85204	0.650000	0.86243	.	AMICA1-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000392106.1	Intron	-	ENST00000533261.1	Splice_Site	SNP	11 : 118068807 - 118068807 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	577	108
CXorf22	170063	broad.mit.edu	37	X	35969425	35969425	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:35969425G>T	ENST00000297866.5	+	5	900	c.834G>T	c.(832-834)gaG>gaT	p.E278D		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	278										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ATAGCCCAGAGCCCATAAATT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	50	52			NA	NA	X		NA											NA				35969425		2202	4300	6502	SO:0001583	missense			BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164	170063	170063			28546	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152632	NM_152632	NA	Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.834G>T	X.37:g.35969425G>T	ENSP00000297866:p.Glu278Asp	NA	Q5JRM8|Q8N6X8	37	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	11.31	1.600097	0.28534	.	.	ENSG00000165164	ENST00000297866	T	0.15603	2.41	5.76	3.29	0.37713	.	0.485709	0.24033	N	0.042164	T	0.17746	0.0426	M	0.62723	1.935	0.23594	N	0.997333	P	0.41080	0.737	P	0.45167	0.472	T	0.08576	-1.0715	10	0.18710	T	0.47	-30.4234	3.1986	0.06641	0.547:0.0:0.2782:0.1748	.	278	Q6ZTR5	CX022_HUMAN	D	278	ENSP00000297866:E278D	ENSP00000297866:E278D	E	+	3	2	CXorf22	35879346	0.979000	0.34478	0.688000	0.30117	0.437000	0.31866	2.190000	0.42630	0.807000	0.34208	-0.503000	0.04515	GAG	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056216.2		+	ENST00000297866.5	Missense_Mutation	SNP	X : 35969425 - 35969425 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	138	41
MAN2C1	4123	broad.mit.edu	37	15	75653521	75653521	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75653521G>A	ENST00000563622.1	-	10	1049	c.1029C>T	c.(1027-1029)acC>acT	p.T343T	MAN2C1_ENST00000267978.5_Silent_p.T442T|MAN2C1_ENST00000565683.1_Silent_p.T442T|MAN2C1_ENST00000569482.1_Silent_p.T442T	NM_001256496.1	NP_001243425.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	442					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						TGTTGGCCACGGTCTTCAGCA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	57	57			NA	NA	15		NA											NA				75653521		2197	4293	6490	SO:0001819	synonymous_variant			AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	4123	4123	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA	NA	1757461, 752528	Standard		NM_006715	NA	Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000563622.1:c.1029C>T	15.37:g.75653521G>A		NA	Q13358|Q9UL64	37	CCDS58389.1																																																																																			MAN2C1-006	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419964.1		-	ENST00000563622.1	Silent	SNP	15 : 75653521 - 75653521 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	118	14
TFAP2A	7020	broad.mit.edu	37	6	10419699	10419699	+	Translation_Start_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10419699C>A	ENST00000319516.4	-	0	172					NM_001042425.1	NP_001035890.1	P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	NA					ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				CTCTGCGCTCCTGGCGACTGG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	64	61			NA	NA	6		NA											NA				10419699		1961	4123	6084					X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203	7020	7020			11742	protein-coding gene	gene with protein product		107580	transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)	TFAP2, AP2TF	NA	1916817, 3063603	Standard	NM_003220	NM_001032280	NA	Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000319516.4:c.-16G>T	6.37:g.10419699C>A		NA	Q13777	37	CCDS43422.1																																																																																			TFAP2A-003	KNOWN	not_organism_supported|not_organism_supported|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039817.2		-	ENST00000319516.4	De_novo_Start_OutOfFrame	SNP	6 : 10419699 - 10419699 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	584	44
ZNF598	90850	broad.mit.edu	37	16	2048484	2048484	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2048484C>T	ENST00000563630.1	-	12	2541	c.2299G>A	c.(2299-2301)Gcc>Acc	p.A767T	ZNF598_ENST00000562103.1_Missense_Mutation_p.A767T|ZNF598_ENST00000431526.1_Missense_Mutation_p.A822T			Q86UK7	ZN598_HUMAN	zinc finger protein 598	822						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						TGCTGCTTGGCCGTGTCGGGC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	32	31			NA	NA	16		NA											NA				2048484		1905	4128	6033	SO:0001583	missense			BC029270		16p13.3	2008-05-02				ENSG00000167962	90850	90850		Zinc fingers, C2H2-type	28079	protein-coding gene	gene with protein product					NA		Standard	NM_178167	NM_178167	NA	Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.2299G>A	16.37:g.2048484C>T	ENSP00000455882:p.Ala767Thr	NA	Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	37		.	.	.	.	.	.	.	.	.	.	.	11.10	1.539123	0.27475	.	.	ENSG00000167962	ENST00000431526	T	0.17854	2.25	4.77	2.83	0.33086	.	0.412070	0.28322	N	0.015774	T	0.11196	0.0273	L	0.28458	0.855	0.24512	N	0.994204	B;B	0.12013	0.005;0.003	B;B	0.14578	0.011;0.004	T	0.31308	-0.9948	10	0.17832	T	0.49	-19.0865	9.7555	0.40500	0.0:0.8338:0.0:0.1662	.	822;814	Q86UK7;Q86UK7-2	ZN598_HUMAN;.	T	822	ENSP00000411409:A822T	ENSP00000411409:A822T	A	-	1	0	ZNF598	1988485	0.466000	0.25823	0.920000	0.36463	0.778000	0.44026	1.064000	0.30579	0.625000	0.30304	0.462000	0.41574	GCC	ZNF598-001	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000434439.1		-	ENST00000563630.1	Missense_Mutation	SNP	16 : 2048484 - 2048484 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	71
ZBTB20	26137	broad.mit.edu	37	3	114070337	114070337	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114070337G>A	ENST00000462705.1	-	11	1190	c.369C>T	c.(367-369)aaC>aaT	p.N123N	ZBTB20_ENST00000357258.3_Silent_p.N123N|ZBTB20_ENST00000474710.1_Silent_p.N196N|ZBTB20_ENST00000471418.1_Silent_p.N123N|ZBTB20_ENST00000464560.1_Silent_p.N123N|ZBTB20_ENST00000481632.1_Silent_p.N123N|ZBTB20_ENST00000393785.2_Silent_p.N123N	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	196	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CATCGCCCACGTTCTGTGACA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(69;748 1344 9802 11203 30933)							NA				0													75	62	66			NA	NA	3		NA											NA				114070337		2203	4300	6503	SO:0001819	synonymous_variant			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722	26137	26137		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	13503	protein-coding gene	gene with protein product		606025	zinc finger protein 288	ZNF288	NA	10965110, 11352661	Standard	NM_015642	XM_005247339	NA	Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000462705.1:c.369C>T	3.37:g.114070337G>A		NA	Q63HP6|Q8N6R5|Q9Y410	37	CCDS2981.1																																																																																			ZBTB20-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354954.1		-	ENST00000462705.1	Silent	SNP	3 : 114070337 - 114070337 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	406	57
HTT	3064	broad.mit.edu	37	4	3133503	3133503	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3133503G>A	ENST00000355072.5	+	16	2381		c.e16+1			NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	NA					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GAATACCCTGGTATGTTAAAA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	72	73			NA	NA	4		NA											NA				3133503		1851	4099	5950	SO:0001630	splice_region_variant			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386	3064	3064		Endogenous ligands	4851	protein-coding gene	gene with protein product		613004	huntingtin (Huntington disease)	HD	NA	8458085	Standard	NM_002111	NM_002111	NA	Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.2236+1G>A	4.37:g.3133503G>A		NA	Q9UQB7	37	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.734557	0.30774	.	.	ENSG00000197386	ENST00000355072	.	.	.	4.98	4.14	0.48551	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2134	0.59839	0.0767:0.0:0.9233:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HTT	3103301	1.000000	0.71417	0.841000	0.33234	0.231000	0.25187	7.012000	0.76366	1.331000	0.45412	0.591000	0.81541	.	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358234.2	Intron	+	ENST00000355072.5	Splice_Site	SNP	4 : 3133503 - 3133503 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	546	103
ROS1	6098	broad.mit.edu	37	6	117746757	117746757	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117746757C>T	ENST00000368508.3	-	1	261	c.63G>A	c.(61-63)tgG>tgA	p.W21*	ROS1_ENST00000368507.3_Nonsense_Mutation_p.W21*|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	21					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCACAGAAATCCATAGGCAGC	0.393		NA	T	GOPC, SDC4, SLC34A2, EZR, LRIG3	glioblastoma, NSCLC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		O, E	0													126	124	125			NA	NA	6		NA											NA				117746757		2203	4300	6503	SO:0001587	stop_gained			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936	6098	6098		Fibronectin type III domain containing	10261	protein-coding gene	gene with protein product		165020	v-ros avian UR2 sarcoma virus oncogene homolog 1, v-ros UR2 sarcoma virus oncogene homolog 1 (avian), c-ros oncogene 1 , receptor tyrosine kinase		NA	1611909	Standard		NM_002944	NA	Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.63G>A	6.37:g.117746757C>T	ENSP00000357494:p.Trp21*	NA	Q15368|Q5TDB5	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	38	7.047808	0.98025	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	.	.	.	5.11	4.24	0.50183	.	0.289012	0.25848	N	0.027918	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.5281	0.39175	0.0:0.9049:0.0:0.0951	.	.	.	.	X	21	.	ENSP00000357493:W21X	W	-	3	0	ROS1	117853450	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.880000	0.56145	1.529000	0.49120	0.655000	0.94253	TGG	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043464.1		-	ENST00000368508.3	Nonsense_Mutation	SNP	6 : 117746757 - 117746757 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	678	107
ZNF860	344787	broad.mit.edu	37	3	32030747	32030747	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32030747A>G	ENST00000360311.4	+	2	725	c.176A>G	c.(175-177)aAc>aGc	p.N59S		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	59	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						AACTACAGGAACCTGCATTCT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	70	74			NA	NA	3		NA											NA				32030747		692	1591	2283	SO:0001583	missense			AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385	344787	344787		Zinc fingers, C2H2-type, -	34513	protein-coding gene	gene with protein product					NA		Standard		NM_001137674	NA	Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.176A>G	3.37:g.32030747A>G	ENSP00000373274:p.Asn59Ser	NA	B4DFA4	37	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	A	11.61	1.690412	0.29962	.	.	ENSG00000197385	ENST00000360311	T	0.02525	4.26	0.14	0.14	0.14804	Krueppel-associated box (4);	.	.	.	.	T	0.09158	0.0226	M	0.75447	2.3	0.09310	N	1	P	0.51057	0.941	P	0.60415	0.874	T	0.16305	-1.0407	8	.	.	.	.	4.624	0.12469	0.9996:0.0:4.0E-4:0.0	.	59	A6NHJ4	ZN860_HUMAN	S	59	ENSP00000373274:N59S	.	N	+	2	0	ZNF860	32005751	0.000000	0.05858	0.046000	0.18839	0.046000	0.14306	-1.384000	0.02542	0.157000	0.19338	0.155000	0.16302	AAC	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341957.1		+	ENST00000360311.4	Missense_Mutation	SNP	3 : 32030747 - 32030747 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	364	80
CYP26B1	56603	broad.mit.edu	37	2	72371142	72371142	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:72371142G>A	ENST00000001146.2	-	2	608	c.405C>T	c.(403-405)ggC>ggT	p.G135G	CYP26B1_ENST00000546307.1_Intron	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	135					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GGTGGATGTCGCCAATGGAAT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	60	60			NA	NA	2		NA											NA				72371142		2203	4300	6503	SO:0001819	synonymous_variant				CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137	56603	56603		Cytochrome P450s	20581	protein-coding gene	gene with protein product		605207			NA	10545224	Standard	NM_019885	NM_019885	NA	Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.405C>T	2.37:g.72371142G>A		NA	B2R8M7|Q32MC0|Q53TW1|Q9NP41	37	CCDS1919.1																																																																																			CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251969.1		-	ENST00000001146.2	Silent	SNP	2 : 72371142 - 72371142 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	448	26
FRY	10129	broad.mit.edu	37	13	32747543	32747543	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32747543C>T	ENST00000380250.3	+	19	2687	c.2191C>T	c.(2191-2193)Cga>Tga	p.R731*		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	731					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCAGTCGGAACGAGGTCCCCA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	148	147			NA	NA	13		NA											NA				32747543		1983	4165	6148	SO:0001587	stop_gained			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910	10129	10129			20367	protein-coding gene	gene with protein product		614818	chromosome 13 open reading frame 14	C13orf14	NA	14702039, 8812419	Standard	NM_023037	NM_023037	NA	Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.2191C>T	13.37:g.32747543C>T	ENSP00000369600:p.Arg731*	NA	Q9Y3N6	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	45	11.495109	0.99568	.	.	ENSG00000073910	ENST00000380250	.	.	.	5.75	3.84	0.44239	.	0.064498	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	15.018	0.71600	0.2216:0.7784:0.0:0.0	.	.	.	.	X	731	.	ENSP00000369600:R731X	R	+	1	2	FRY	31645543	0.894000	0.30519	0.967000	0.41034	0.999000	0.98932	1.229000	0.32600	2.708000	0.92522	0.650000	0.86243	CGA	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044405.1		+	ENST00000380250.3	Nonsense_Mutation	SNP	13 : 32747543 - 32747543 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	593	101
SLC12A5	57468	broad.mit.edu	37	20	44680390	44680390	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44680390G>A	ENST00000243964.3	+	18	2356	c.2258G>A	c.(2257-2259)gGc>gAc	p.G753D	SLC12A5_ENST00000454036.2_Missense_Mutation_p.G776D	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	776					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TTGCGTGATGGCGTGTCCCAT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	103	106			NA	NA	20		NA											NA				44680390		2203	4300	6503	SO:0001583	missense			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140	57468	57468		Solute carriers	13818	protein-coding gene	gene with protein product		606726			NA		Standard		NM_020708	NA	Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000243964.3:c.2258G>A	20.37:g.44680390G>A	ENSP00000243964:p.Gly753Asp	NA	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	37	CCDS13391.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340323	0.81911	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.97186	-4.28;-4.28	4.19	4.19	0.49359	.	0.136206	0.50627	D	0.000118	D	0.98406	0.9470	M	0.87180	2.865	0.80722	D	1	D;D	0.67145	0.996;0.992	D;D	0.68192	0.956;0.926	D	0.99201	1.0873	10	0.66056	D	0.02	.	16.0375	0.80640	0.0:0.0:1.0:0.0	.	776;753	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	D	776;753	ENSP00000387694:G776D;ENSP00000243964:G753D	ENSP00000243964:G753D	G	+	2	0	SLC12A5	44113797	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.978000	0.63799	2.302000	0.77476	0.462000	0.41574	GGC	SLC12A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079558.2		+	ENST00000243964.3	Missense_Mutation	SNP	20 : 44680390 - 44680390 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	553	22
PRPF39	55015	broad.mit.edu	37	14	45571884	45571884	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45571884G>T	ENST00000355765.6	+	5	892	c.722G>T	c.(721-723)aGt>aTt	p.S241I		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	241					mRNA processing|RNA splicing	nucleus	binding			breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						CAGCTGTATAGTCATCATTTT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	192	186			NA	NA	14		NA											NA				45571884		2203	4300	6503	SO:0001583	missense			AK000673	CCDS9682.2	14q21.1	2013-10-03	2013-10-03		ENSG00000185246	ENSG00000185246	55015	55015			20314	protein-coding gene	gene with protein product		614907	PRP39 pre-mRNA processing factor 39 homolog (yeast), PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae)		NA		Standard		NM_017922	NA	Approved	FLJ20666, FLJ11128	uc001wvz.4	Q86UA1	OTTHUMG00000140265	ENST00000355765.6:c.722G>T	14.37:g.45571884G>T	ENSP00000348010:p.Ser241Ile	NA	Q08AL1|Q08AL2|Q9NUU5	37	CCDS9682.2	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912410	0.72983	.	.	ENSG00000185246	ENST00000355765;ENST00000355846	T	0.34667	1.35	5.75	5.75	0.90469	.	0.086607	0.85682	D	0.000000	T	0.59459	0.2195	M	0.67397	2.05	0.58432	D	0.999999	D;D	0.76494	0.989;0.999	D;D	0.67548	0.923;0.952	T	0.55457	-0.8138	10	0.44086	T	0.13	-5.6361	19.5493	0.95311	0.0:0.0:1.0:0.0	.	241;120	Q86UA1;F5H1P0	PRP39_HUMAN;.	I	241;120	ENSP00000348010:S241I	ENSP00000348010:S241I	S	+	2	0	PRPF39	44641634	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.387000	0.79785	2.728000	0.93425	0.650000	0.86243	AGT	PRPF39-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319683.2		+	ENST00000355765.6	Missense_Mutation	SNP	14 : 45571884 - 45571884 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	887	169
KLHL20	27252	broad.mit.edu	37	1	173722355	173722355	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173722355C>T	ENST00000209884.4	+	5	896	c.760C>T	c.(760-762)Ctg>Ttg	p.L254L	KLHL20_ENST00000546011.1_Silent_p.L65L	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	254	BACK.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						CTCATAGGTGCTGCAGCATGT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(159;862 2695 6559 23041)							NA				0													76	72	74			NA	NA	1		NA											NA				173722355		2203	4300	6503	SO:0001819	synonymous_variant			AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321	27252	27252		Kelch-like, BTB/POZ domain containing	25056	protein-coding gene	gene with protein product			kelch-like 20 (Drosophila)		NA	14668487, 20389280	Standard	NM_014458	NM_014458	NA	Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.760C>T	1.37:g.173722355C>T		NA	B3KMA0|Q5TZF2|Q5ZF45|Q9H457	37	CCDS1310.1																																																																																			KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097582.1		+	ENST00000209884.4	Silent	SNP	1 : 173722355 - 173722355 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	223	26
IQSEC1	9922	broad.mit.edu	37	3	12962091	12962091	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12962091C>T	ENST00000273221.4	-	6	2117	c.1901G>A	c.(1900-1902)cGc>cAc	p.R634H		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	634	SEC7.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GATGCAGTAGCGCTGGCTGCG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	79	81			NA	NA	3		NA											NA				12962091		2203	4300	6503	SO:0001583	missense			BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711	9922	9922			29112	protein-coding gene	gene with protein product	brefeldin A-resistant ARF-GEF2	610166			NA	9872452, 8619474	Standard	NM_014869	NM_001134382	NA	Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.1901G>A	3.37:g.12962091C>T	ENSP00000273221:p.Arg634His	NA	O94863|Q96D85	37	CCDS33703.1	.	.	.	.	.	.	.	.	.	.	C	31	5.063487	0.93898	.	.	ENSG00000144711	ENST00000273221;ENST00000435445;ENST00000429247	T;T	0.57907	0.37;0.37	4.59	4.59	0.56863	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.000000	0.85682	D	0.000000	T	0.73583	0.3605	.	.	.	0.80722	D	1	P;D;P	0.89917	0.9;1.0;0.951	P;D;P	0.97110	0.765;1.0;0.818	T	0.78028	-0.2364	9	0.62326	D	0.03	.	17.3729	0.87383	0.0:1.0:0.0:0.0	.	620;620;634	E9PG60;C9JMG9;Q6DN90	.;.;IQEC1_HUMAN	H	634;620;620	ENSP00000273221:R634H;ENSP00000402299:R620H	ENSP00000273221:R634H	R	-	2	0	IQSEC1	12937091	1.000000	0.71417	0.996000	0.52242	0.964000	0.63967	7.721000	0.84768	2.104000	0.64026	0.561000	0.74099	CGC	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339865.2		-	ENST00000273221.4	Missense_Mutation	SNP	3 : 12962091 - 12962091 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	507	84
UBE3D	90025	broad.mit.edu	37	6	83754249	83754249	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83754249G>T	ENST00000369747.3	-	4	617	c.495C>A	c.(493-495)gaC>gaA	p.D165E		NM_198920.1	NP_944602.1	Q7Z6J8	UB2CB_HUMAN	ubiquitin protein ligase E3D	165						cytoplasm	ligase activity				NA						AGAAGAAAGAGTCTCCAATAA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	147	143			NA	NA	6		NA											NA				83754249		2203	4300	6503	SO:0001583	missense			AL137544	CCDS34491.1	6q15	2012-02-24	2012-02-24	2012-02-24	ENSG00000118420	ENSG00000118420	90025	90025			21381	protein-coding gene	gene with protein product	UBCH10 binding protein with a hect-like domain	612495	chromosome 6 open reading frame 157, ubiquitin-conjugating enzyme E2C binding protein	C6orf157, UBE2CBP	NA	15749827	Standard	NM_198920	NM_198920	NA	Approved	DKFZp434A1520, H10BH, YJR141W	uc003pjp.2	Q7Z6J8	OTTHUMG00000015108	ENST00000369747.3:c.495C>A	6.37:g.83754249G>T	ENSP00000358762:p.Asp165Glu	NA	B4DP63|Q5T4W2|Q6IPR4|Q75UG0|Q9NT42	37	CCDS34491.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751081	0.69533	.	.	ENSG00000118420	ENST00000369747	T	0.32272	1.46	5.63	2.85	0.33270	.	0.000000	0.85682	D	0.000000	T	0.34513	0.0900	M	0.74258	2.255	0.80722	D	1	D;D	0.71674	0.998;0.957	D;P	0.67725	0.953;0.545	T	0.24476	-1.0159	10	0.16420	T	0.52	-3.3466	11.6588	0.51334	0.1862:0.0:0.8138:0.0	.	165;165	D6RD24;Q7Z6J8	.;UB2CB_HUMAN	E	165	ENSP00000358762:D165E	ENSP00000358762:D165E	D	-	3	2	UBE2CBP	83810968	1.000000	0.71417	0.959000	0.39883	0.946000	0.59487	1.037000	0.30241	0.305000	0.22832	0.655000	0.94253	GAC	UBE3D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041347.7		-	ENST00000369747.3	Missense_Mutation	SNP	6 : 83754249 - 83754249 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	763	142
MERTK	10461	broad.mit.edu	37	2	112766019	112766019	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112766019G>T	ENST00000295408.4	+	14	2184	c.1927G>T	c.(1927-1929)Gac>Tac	p.D643Y	MERTK_ENST00000409780.1_Missense_Mutation_p.D467Y|MERTK_ENST00000421804.2_Missense_Mutation_p.D643Y			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	643	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GTGCATGAAAGACTTCAGCCA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	102	106			NA	NA	2		NA											NA				112766019		2203	4300	6503	SO:0001583	missense			U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208	10461	10461		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	7027	protein-coding gene	gene with protein product		604705	c-mer proto-oncogene tyrosine kinase		NA	8086340, 10343112	Standard		XM_005263565	NA	Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.1927G>T	2.37:g.112766019G>T	ENSP00000295408:p.Asp643Tyr	NA	Q9HBB4	37	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628837	0.87560	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780	D;D;D	0.82984	-1.67;-1.67;-1.67	5.96	5.96	0.96718	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.33553	U	0.004800	D	0.88503	0.6454	L	0.39566	1.225	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88800	0.3284	10	0.87932	D	0	-41.4143	19.1828	0.93630	0.0:0.0:1.0:0.0	.	643	Q12866	MERTK_HUMAN	Y	643;643;285;467	ENSP00000295408:D643Y;ENSP00000389152:D643Y;ENSP00000387277:D467Y	ENSP00000295408:D643Y	D	+	1	0	MERTK	112482490	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	8.582000	0.90791	2.829000	0.97493	0.579000	0.79373	GAC	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254046.2		+	ENST00000295408.4	Missense_Mutation	SNP	2 : 112766019 - 112766019 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	380	79
ADAM20	8748	broad.mit.edu	37	14	70991330	70991330	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70991330T>G	ENST00000256389.3	-	2	539	c.295A>C	c.(295-297)Atc>Ctc	p.I99L	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	49					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		CCCCTGCTGATCACCTTCAAA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	73	76			NA	NA	14		NA											NA				70991330		2203	4300	6503	SO:0001583	missense			AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007	8748	8748		ADAM metallopeptidase domain containing	199	protein-coding gene	gene with protein product		603712	a disintegrin and metalloproteinase domain 20		NA	9469942	Standard		NM_003814	NA	Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.295A>C	14.37:g.70991330T>G	ENSP00000256389:p.Ile99Leu	NA	Q6GTZ1|Q9UKJ9	37	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	T	8.508	0.865782	0.17250	.	.	ENSG00000134007	ENST00000256389	T	0.05649	3.41	4.14	0.241	0.15494	Peptidase M12B, propeptide (1);	0.390677	0.17933	U	0.157114	T	0.04588	0.0125	L	0.28556	0.865	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.33752	-0.9856	10	0.66056	D	0.02	.	6.0527	0.19794	0.0:0.0836:0.3142:0.6021	.	49	O43506	ADA20_HUMAN	L	99	ENSP00000256389:I99L	ENSP00000256389:I99L	I	-	1	0	ADAM20	70061083	0.000000	0.05858	0.075000	0.20258	0.177000	0.22998	-0.244000	0.08903	-0.048000	0.13401	0.528000	0.53228	ATC	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395004.2		-	ENST00000256389.3	Missense_Mutation	SNP	14 : 70991330 - 70991330 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	409	87
NCOA3	8202	broad.mit.edu	37	20	46264735	46264735	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46264735T>G	ENST00000372004.3	+	12	1821	c.1605T>G	c.(1603-1605)acT>acG	p.T535T	NCOA3_ENST00000371997.3_Silent_p.T545T|NCOA3_ENST00000371998.3_Silent_p.T535T|NCOA3_ENST00000341724.6_Silent_p.T545T	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	535	Ser-rich.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GTGTGGGGACTTCCCTTTTAT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	84	84			NA	NA	20		NA											NA				46264735		2203	4300	6503	SO:0001819	synonymous_variant			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151	8202	8202		Chromatin-modifying enzymes / K-acetyltransferases, Basic helix-loop-helix proteins	7670	protein-coding gene	gene with protein product	receptor-associated coactivator 3, thyroid hormone receptor activator molecule 1	601937			NA	9252329, 9346901	Standard	NM_006534	NM_181659	NA	Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000372004.3:c.1605T>G	20.37:g.46264735T>G		NA	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	37	CCDS13406.1																																																																																			NCOA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080403.3		+	ENST00000372004.3	Silent	SNP	20 : 46264735 - 46264735 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	558	104
USP32	84669	broad.mit.edu	37	17	58259106	58259106	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58259106G>T	ENST00000300896.4	-	32	4321	c.4127C>A	c.(4126-4128)tCt>tAt	p.S1376Y	USP32_ENST00000592339.1_Missense_Mutation_p.S1046Y	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1376					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TGAAGAAGGAGAACCTGTGAA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	17	17			NA	NA	17		NA											NA				58259106		2121	4240	6361	SO:0001583	missense			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832	84669	84669		Ubiquitin-specific peptidases, EF-hand domain containing	19143	protein-coding gene	gene with protein product		607740	ubiquitin specific protease 32		NA	12838346	Standard	NM_032582	NM_032582	NA	Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.4127C>A	17.37:g.58259106G>T	ENSP00000300896:p.Ser1376Tyr	NA	Q9BX85|Q9Y591	37	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331647	0.60853	.	.	ENSG00000170832	ENST00000300896	T	0.54675	0.56	5.73	5.73	0.89815	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.053759	0.85682	D	0.000000	T	0.61825	0.2378	L	0.29908	0.895	0.80722	D	1	D	0.59767	0.986	P	0.62184	0.899	T	0.63278	-0.6673	10	0.72032	D	0.01	.	19.2507	0.93923	0.0:0.0:1.0:0.0	.	1376	Q8NFA0	UBP32_HUMAN	Y	1376	ENSP00000300896:S1376Y	ENSP00000300896:S1376Y	S	-	2	0	USP32	55613888	1.000000	0.71417	0.993000	0.49108	0.220000	0.24768	8.998000	0.93550	2.868000	0.98415	0.555000	0.69702	TCT	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449235.2		-	ENST00000300896.4	Missense_Mutation	SNP	17 : 58259106 - 58259106 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	290	45
SLC17A6	57084	broad.mit.edu	37	11	22381043	22381043	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22381043C>A	ENST00000263160.3	+	4	980	c.543C>A	c.(541-543)atC>atA	p.I181I		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	181					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GATGTGTCATCTTTGTCAGAA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	138	143			NA	NA	11		NA											NA				22381043		2203	4300	6503	SO:0001819	synonymous_variant			AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664	57084	57084		Solute carriers	16703	protein-coding gene	gene with protein product	vesicular glutamate transporter 2, differentiation-associated Na-dependent inorganic phosphate cotransporter	607563	solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6		NA	11306821	Standard	NM_020346	NM_020346	NA	Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.543C>A	11.37:g.22381043C>A		NA	A6NKS2	37	CCDS7856.1																																																																																			SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387671.1		+	ENST00000263160.3	Silent	SNP	11 : 22381043 - 22381043 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	287	45
LYPD1	116372	broad.mit.edu	37	2	133403818	133403818	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133403818C>A	ENST00000397463.2	-	3	498	c.226G>T	c.(226-228)Gcc>Tcc	p.A76S	LYPD1_ENST00000345008.6_Missense_Mutation_p.A24S|GPR39_ENST00000329321.3_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_144586.5	NP_653187.3	Q8N2G4	LYPD1_HUMAN	LY6/PLAUR domain containing 1	76	UPAR/Ly6.					anchored to membrane|plasma membrane				lung(2)	2						ATGAGACAGGCCGCTGATGAT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	60	57			NA	NA	2		NA											NA				133403818		2129	4237	6366	SO:0001583	missense			AK075487	CCDS42759.1, CCDS46416.1	2q21.2	2008-02-05		2005-08-30	ENSG00000150551	ENSG00000150551	116372	116372			28431	protein-coding gene	gene with protein product		610450		LYPDC1	NA	12477932	Standard	NM_144586	NM_144586	NA	Approved	MGC29643	uc002ttn.3	Q8N2G4	OTTHUMG00000153609	ENST00000397463.2:c.226G>T	2.37:g.133403818C>A	ENSP00000380605:p.Ala76Ser	NA	Q6ZP52|Q6ZWI4|Q96AC2	37	CCDS42759.1	.	.	.	.	.	.	.	.	.	.	C	34	5.372246	0.95923	.	.	ENSG00000150551	ENST00000409034;ENST00000397463;ENST00000345008	D;D	0.86956	-2.19;-2.19	5.7	5.7	0.88788	Ly-6 antigen / uPA receptor -like (1);	0.128766	0.52532	D	0.000077	D	0.89588	0.6758	N	0.19112	0.55	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.91025	0.4860	10	0.87932	D	0	-8.1411	19.8936	0.96942	0.0:1.0:0.0:0.0	.	76;92	Q8N2G4;Q8N2G4-3	LYPD1_HUMAN;.	S	99;76;24	ENSP00000380605:A76S;ENSP00000340563:A24S	ENSP00000340563:A24S	A	-	1	0	LYPD1	133120288	1.000000	0.71417	0.964000	0.40570	0.874000	0.50279	7.601000	0.82783	2.716000	0.92895	0.650000	0.86243	GCC	LYPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331821.1		-	ENST00000397463.2	Missense_Mutation	SNP	2 : 133403818 - 133403818 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	247	22
PTK6	5753	broad.mit.edu	37	20	62164956	62164956	+	Silent	SNP	G	G	A	rs61736391		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62164956G>A	ENST00000217185.2	-	4	645	c.618C>T	c.(616-618)ttC>ttT	p.F206F	PTK6_ENST00000542869.1_Silent_p.F105F	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	206	Protein kinase.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			AGAGCCCCTCGAAGACCTCCC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	87	85			NA	NA	20		NA											NA				62164956		2203	4300	6503	SO:0001819	synonymous_variant			U61412	CCDS13524.1, CCDS74750.1	20q13.3	2013-02-18	2013-02-18		ENSG00000101213	ENSG00000101213	5753	5753	2.7.10.1	SH2 domain containing	9617	protein-coding gene	gene with protein product		602004	PTK6 protein tyrosine kinase 6		NA	8247543, 9284935	Standard		NM_005975	NA	Approved	BRK	uc002yfg.4	Q13882	OTTHUMG00000033039	ENST00000217185.2:c.618C>T	20.37:g.62164956G>A		NA	B2RCR3|Q58F01	37	CCDS13524.1																																																																																			PTK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080313.1		-	ENST00000217185.2	Silent	SNP	20 : 62164956 - 62164956 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	686	102
FZD3	7976	broad.mit.edu	37	8	28385002	28385002	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28385002C>T	ENST00000240093.3	+	5	1203	c.725C>T	c.(724-726)gCa>gTa	p.A242V	FZD3_ENST00000537916.1_Missense_Mutation_p.A242V	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	242					canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		ATATTTTATGCAGTCTGCTAC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	101	101			NA	NA	8		NA											NA				28385002		2202	4300	6502	SO:0001583	missense			AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290	7976	7976		GPCR / Class F : Frizzled receptors	4041	protein-coding gene	gene with protein product		606143	frizzled (Drosophila) homolog 3, frizzled homolog 3 (Drosophila), frizzled 3, seven transmembrane spanning receptor, frizzled family receptor 3		NA	10777673, 10873558	Standard	NM_145866	NM_145866	NA	Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.725C>T	8.37:g.28385002C>T	ENSP00000240093:p.Ala242Val	NA		37	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480194	0.84747	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	D;D	0.82893	-1.66;-1.66	5.24	5.24	0.73138	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.90885	0.7136	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.91908	0.5537	10	0.87932	D	0	.	17.8224	0.88654	0.0:1.0:0.0:0.0	.	242	Q9NPG1	FZD3_HUMAN	V	242	ENSP00000437489:A242V;ENSP00000240093:A242V	ENSP00000240093:A242V	A	+	2	0	FZD3	28440921	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.438000	0.82558	0.655000	0.94253	GCA	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219986.2		+	ENST00000240093.3	Missense_Mutation	SNP	8 : 28385002 - 28385002 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	631	97
PTPN23	25930	broad.mit.edu	37	3	47454517	47454517	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47454517C>A	ENST00000265562.4	+	25	4830	c.4753C>A	c.(4753-4755)Cca>Aca	p.P1585T	PTPN23_ENST00000431726.1_Missense_Mutation_p.P1459T	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1585					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCCTTGACCCCAGAGGCCTT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	22	21			NA	NA	3		NA											NA				47454517		2203	4300	6503	SO:0001583	missense			AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201	25930	25930		Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor	14406	protein-coding gene	gene with protein product		606584			NA	11095967	Standard	NM_015466	NM_015466	NA	Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.4753C>A	3.37:g.47454517C>A	ENSP00000265562:p.Pro1585Thr	NA	A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	37	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802228	0.50315	.	.	ENSG00000076201	ENST00000265562	T	0.08008	3.14	4.72	4.72	0.59763	.	0.080102	0.49916	D	0.000132	T	0.12944	0.0314	L	0.29908	0.895	0.44627	D	0.997603	D	0.60160	0.987	P	0.54544	0.755	T	0.01464	-1.1348	10	0.72032	D	0.01	-10.3634	12.3772	0.55287	0.0:0.8296:0.1704:0.0	.	1585	Q9H3S7	PTN23_HUMAN	T	1585	ENSP00000265562:P1585T	ENSP00000265562:P1585T	P	+	1	0	PTPN23	47429521	0.998000	0.40836	0.695000	0.30226	0.993000	0.82548	4.195000	0.58400	2.146000	0.66826	0.563000	0.77884	CCA	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257492.2		+	ENST00000265562.4	Missense_Mutation	SNP	3 : 47454517 - 47454517 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	212	40
ZSCAN25	221785	broad.mit.edu	37	7	99227349	99227349	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99227349G>T	ENST00000394152.2	+	8	1668	c.1341G>T	c.(1339-1341)caG>caT	p.Q447H	ZSCAN25_ENST00000466948.1_Intron|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.Q447H|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.Q375H	NM_145115.2	NP_660090.2			zinc finger and SCAN domain containing 25	NA											NA						AGCACCTGCAGGTGCACCGGA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	45	44			NA	NA	7		NA											NA				99227349		2203	4300	6503	SO:0001583	missense			AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037	221785	221785		-, Zinc fingers, C2H2-type	21961	protein-coding gene	gene with protein product			zinc finger protein 498	ZNF498	NA	11179890	Standard	NM_145115	XM_005250194	NA	Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.1341G>T	7.37:g.99227349G>T	ENSP00000377708:p.Gln447His	NA		37	CCDS5671.2	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209253	0.58343	.	.	ENSG00000197037	ENST00000394152;ENST00000334715;ENST00000262941	T;T;T	0.12569	2.67;2.67;2.67	3.93	3.01	0.34805	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.172297	0.28257	N	0.016008	T	0.18215	0.0437	L	0.44542	1.39	0.25696	N	0.98563	P;P	0.43885	0.785;0.82	P;P	0.49140	0.465;0.601	T	0.03017	-1.1082	10	0.66056	D	0.02	-16.1905	10.9024	0.47059	0.0:0.0:0.8108:0.1892	.	375;447	Q6NSZ9-2;Q6NSZ9	.;ZN498_HUMAN	H	447;447;375	ENSP00000377708:Q447H;ENSP00000334800:Q447H;ENSP00000262941:Q375H	ENSP00000262941:Q375H	Q	+	3	2	ZNF498	99065285	0.000000	0.05858	0.999000	0.59377	0.995000	0.86356	0.462000	0.21956	1.164000	0.42652	0.561000	0.74099	CAG	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157203.4		+	ENST00000394152.2	Missense_Mutation	SNP	7 : 99227349 - 99227349 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	341	81
DNAJC3	5611	broad.mit.edu	37	13	96409944	96409944	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:96409944A>C	ENST00000376795.6	+	5	491				DNAJC3_ENST00000602402.1_Missense_Mutation_p.Q147P			Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	NA					protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			GCACAGTCTCAACTTATAAAA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	85	85			NA	NA	13		NA											NA				96409944		2203	4300	6503	SO:0001627	intron_variant			U28424	CCDS9479.1	13q32	2013-01-10			ENSG00000102580	ENSG00000102580	5611	5611		Heat shock proteins / DNAJ (HSP40), Tetratricopeptide (TTC) repeat domain containing	9439	protein-coding gene	gene with protein product		601184		PRKRI	NA	7511204, 8824806	Standard		NM_006260	NA	Approved	P58, P58IPK, HP58	uc001vmq.3	Q13217	OTTHUMG00000017227	ENST00000376795.6:c.394-2350A>C	13.37:g.96409944A>C		NA	Q86WT9|Q8N4N2	37		.	.	.	.	.	.	.	.	.	.	A	19.29	3.798940	0.70567	.	.	ENSG00000102580	ENST00000376795	.	.	.	5.8	4.59	0.56863	Tetratricopeptide repeat-containing (1);	0.302554	0.36893	N	0.002357	T	0.67618	0.2912	M	0.65975	2.015	0.80722	D	1	P	0.50066	0.931	P	0.55615	0.78	T	0.69094	-0.5236	9	0.59425	D	0.04	-1.706	11.7769	0.51991	0.8532:0.1468:0.0:0.0	.	147	Q13217	DNJC3_HUMAN	P	147	.	ENSP00000365991:Q147P	Q	+	2	0	DNAJC3	95207945	1.000000	0.71417	0.605000	0.28930	0.960000	0.62799	6.778000	0.75043	0.982000	0.38575	0.482000	0.46254	CAA	DNAJC3-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000468030.1		+	ENST00000376795.6	Intron	SNP	13 : 96409944 - 96409944 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	51
GSG1L	146395	broad.mit.edu	37	16	27856320	27856320	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27856320C>T	ENST00000447459.2	-	4	697	c.613G>A	c.(613-615)Ggt>Agt	p.G205S	GSG1L_ENST00000380897.3_Missense_Mutation_p.G50S|GSG1L_ENST00000395724.3_Missense_Mutation_p.G154S|GSG1L_ENST00000569166.1_Missense_Mutation_p.G50S|GSG1L_ENST00000380898.2_Missense_Mutation_p.G50S	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like	205						integral to membrane				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						TCCTCAGGACCGAGGCTCACG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	64	75			NA	NA	16		NA											NA				27856320		2197	4300	6497	SO:0001583	missense			AK128775	CCDS10631.1, CCDS45450.1	16p11.2	2014-01-20			ENSG00000169181	ENSG00000169181	146395	146395			28283	protein-coding gene	gene with protein product					NA	22813734	Standard	NM_144675	NM_001109763	NA	Approved	MGC18079, PRO19651, KTSR5831	uc002doz.2	Q6UXU4	OTTHUMG00000131676	ENST00000447459.2:c.613G>A	16.37:g.27856320C>T	ENSP00000394954:p.Gly205Ser	NA	Q7Z6F8|Q8TB81	37	CCDS45450.1	.	.	.	.	.	.	.	.	.	.	C	36	5.699849	0.96802	.	.	ENSG00000169181	ENST00000447459;ENST00000395724;ENST00000380898;ENST00000380897	T;T;D;D	0.87571	0.96;1.16;-2.27;-2.27	5.25	5.25	0.73442	.	0.057467	0.64402	D	0.000002	D	0.93262	0.7853	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.93950	0.7231	10	0.87932	D	0	-6.9936	17.6218	0.88084	0.0:1.0:0.0:0.0	.	154;50;205	Q6UXU4-3;Q6UXU4-4;Q6UXU4	.;.;GSG1L_HUMAN	S	205;154;50;50	ENSP00000394954:G205S;ENSP00000379074:G154S;ENSP00000370283:G50S;ENSP00000370282:G50S	ENSP00000370282:G50S	G	-	1	0	GSG1L	27763821	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.496000	0.81526	2.460000	0.83146	0.655000	0.94253	GGT	GSG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000433832.2		-	ENST00000447459.2	Missense_Mutation	SNP	16 : 27856320 - 27856320 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	146	23
DSC2	1824	broad.mit.edu	37	18	28662229	28662229	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28662229T>C	ENST00000280904.6	-	9	1681	c.1238A>G	c.(1237-1239)aAt>aGt	p.N413S	DSC2_ENST00000251081.6_Missense_Mutation_p.N413S	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	413	Cadherin 3.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AACTCCTTCATTGGTTTTGGC	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	85	84			NA	NA	18		NA											NA				28662229		2202	4296	6498	SO:0001583	missense			X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755	1824	1824		Cadherins / Major cadherins	3036	protein-coding gene	gene with protein product		125645		DSC3	NA	7774948	Standard	NM_004949	NM_024422	NA	Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.1238A>G	18.37:g.28662229T>C	ENSP00000280904:p.Asn413Ser	NA		37	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.344545	0.82022	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000438199;ENST00000399347	T;T	0.38077	1.16;1.16	5.69	5.69	0.88448	Cadherin (5);Cadherin-like (1);	0.000000	0.34555	N	0.003875	T	0.65354	0.2683	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.994	T	0.72214	-0.4358	10	0.87932	D	0	.	14.9309	0.70914	0.0:0.0:0.0:1.0	.	413;413	Q02487;Q02487-2	DSC2_HUMAN;.	S	413;413;179;426	ENSP00000251081:N413S;ENSP00000280904:N413S	ENSP00000251081:N413S	N	-	2	0	DSC2	26916227	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.373000	0.79623	2.170000	0.68504	0.528000	0.53228	AAT	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254943.1		-	ENST00000280904.6	Missense_Mutation	SNP	18 : 28662229 - 28662229 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	287	8
RNASEH2B	79621	broad.mit.edu	37	13	51522132	51522132	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:51522132T>C	ENST00000336617.3	+	8	1025	c.626T>C	c.(625-627)aTt>aCt	p.I209T	RNASEH2B_ENST00000422660.1_Missense_Mutation_p.I209T|RNASEH2B_ENST00000495244.2_3'UTR	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B	209					RNA catabolic process	nucleus|ribonuclease H2 complex				endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		GAGGATTATATTCGTTATGCC	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	146	143			NA	NA	13		NA											NA				51522132		2203	4296	6499	SO:0001583	missense			AK021774	CCDS9425.1, CCDS45047.1	13q14.3	2014-09-17	2006-08-17	2006-08-17	ENSG00000136104	ENSG00000136104	79621	79621			25671	protein-coding gene	gene with protein product		610326	deleted in lymphocytic leukemia 8, Aicardi-Goutieres syndrome 2	DLEU8, AGS2	NA	16845400	Standard	NM_024570	NM_001142279	NA	Approved	FLJ11712	uc001vfa.4	Q5TBB1	OTTHUMG00000016937	ENST00000336617.3:c.626T>C	13.37:g.51522132T>C	ENSP00000337623:p.Ile209Thr	NA	Q6PK48|Q9HAF7	37	CCDS9425.1	.	.	.	.	.	.	.	.	.	.	T	10.56	1.384921	0.25031	.	.	ENSG00000136104	ENST00000336617;ENST00000539292;ENST00000422660	D;D	0.96619	-4.07;-4.07	5.77	5.77	0.91146	.	0.521832	0.22594	N	0.058050	D	0.89708	0.6793	N	0.08118	0	0.32135	N	0.586234	B;B	0.27380	0.177;0.01	B;B	0.23419	0.039;0.046	D	0.87590	0.2490	10	0.17832	T	0.49	-4.4388	13.4717	0.61285	0.0:0.0:0.0:1.0	.	209;209	G3XAJ1;Q5TBB1	.;RNH2B_HUMAN	T	209	ENSP00000337623:I209T;ENSP00000389877:I209T	ENSP00000337623:I209T	I	+	2	0	RNASEH2B	50420133	1.000000	0.71417	0.222000	0.23844	0.985000	0.73830	5.866000	0.69590	2.197000	0.70478	0.455000	0.32223	ATT	RNASEH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045006.3		+	ENST00000336617.3	Missense_Mutation	SNP	13 : 51522132 - 51522132 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	759	161
FASTK	10922	broad.mit.edu	37	7	150776915	150776915	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150776915C>T	ENST00000297532.6	-	2	254	c.177G>A	c.(175-177)caG>caA	p.Q59Q	FASTK_ENST00000489884.1_Intron|FASTK_ENST00000353841.2_Intron|FASTK_ENST00000540185.1_Silent_p.Q25Q|FASTK_ENST00000482571.1_Silent_p.Q59Q	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	59					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		AACAGCAGGGCTGTACTGGAG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	17	20			NA	NA	7		NA											NA				150776915		2198	4298	6496	SO:0001819	synonymous_variant				CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			ENSG00000164896	ENSG00000164896	10922	10922			24676	protein-coding gene	gene with protein product		606965			NA	7544399, 15572676	Standard	NM_006712	NM_006712	NA	Approved	FAST	uc003wix.2	Q14296	OTTHUMG00000158694	ENST00000297532.6:c.177G>A	7.37:g.150776915C>T		NA	A8K867	37	CCDS5918.1																																																																																			FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351832.2		-	ENST00000297532.6	Silent	SNP	7 : 150776915 - 150776915 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	73	19
PCDHB7	56129	broad.mit.edu	37	5	140553895	140553895	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140553895C>T	ENST00000231137.3	+	1	1653	c.1479C>T	c.(1477-1479)tcC>tcT	p.S493S		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	493	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGCCGTCCCAGGACCCGC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	94	94			NA	NA	5		NA											NA				140553895		2203	4300	6503	SO:0001819	synonymous_variant			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212	56129	56129		Cadherins / Protocadherins : Clustered	8692	other	protocadherin		606333			NA	10380929	Standard	NM_018940	NM_018940	NA	Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1479C>T	5.37:g.140553895C>T		NA		37	CCDS4249.1																																																																																			PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251803.2		+	ENST00000231137.3	Silent	SNP	5 : 140553895 - 140553895 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	932	149
ATP2C1	27032	broad.mit.edu	37	3	130675022	130675022	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130675022A>C	ENST00000510168.1	+	11	1381	c.831A>C	c.(829-831)atA>atC	p.I277I	ATP2C1_ENST00000505330.1_Splice_Site_p.I261I|ATP2C1_ENST00000504948.1_Splice_Site_p.I261I|ATP2C1_ENST00000359644.3_Splice_Site_p.I277I|ATP2C1_ENST00000328560.8_Splice_Site_p.I277I|ATP2C1_ENST00000508532.1_Splice_Site_p.I277I|ATP2C1_ENST00000504381.1_Splice_Site_p.I222I|ATP2C1_ENST00000428331.2_Splice_Site_p.I277I|ATP2C1_ENST00000393221.4_Splice_Site_p.I311I|ATP2C1_ENST00000513801.1_Splice_Site_p.I261I|ATP2C1_ENST00000422190.2_Splice_Site_p.I277I|ATP2C1_ENST00000533801.2_Splice_Site_p.I272I|ATP2C1_ENST00000507488.2_Splice_Site_p.I261I			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	277					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TTGGTATAATAGGTAAGAGAA	0.338		NA							Hailey-Hailey disease					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(99;456 1443 27647 34099 42636)							NA				0													68	63	65			NA	NA	3		NA											NA				130675022		2203	4300	6503	SO:0001630	splice_region_variant	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	27032	27032	3.6.3.8	ATPases / P-type	13211	protein-coding gene	gene with protein product	secretory pathway Ca2+/Mn2+ ATPase 1, calcium-transporting ATPase type 2C member 1	604384	benign chronic pemphigus (Hailey-Hailey disease)	BCPM	NA	10615129, 10767338	Standard	NM_001001486	NM_001001485	NA	Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.832+1A>C	3.37:g.130675022A>C		NA	B2RAT7|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	37	CCDS46914.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.578922	0.46006	.	.	ENSG00000017260	ENST00000504612	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9621	0.53015	0.8702:0.0:0.0:0.1298	.	.	.	.	S	231	.	.	X	+	2	0	ATP2C1	132157712	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.428000	0.34892	2.250000	0.74265	0.533000	0.62120	TAG	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356648.2	Silent	+	ENST00000510168.1	Splice_Site	SNP	3 : 130675022 - 130675022 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	239	58
OR4K1	79544	broad.mit.edu	37	14	20404376	20404376	+	Missense_Mutation	SNP	T	T	C	rs138642977	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20404376T>C	ENST00000285600.4	+	1	610	c.551T>C	c.(550-552)gTg>gCg	p.V184A		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CTTCCCTTGGTGATAGAGCTG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	165	164			NA	NA	14		NA											NA				20404376		2203	4300	6503	SO:0001583	missense				CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249	79544	79544		GPCR / Class A : Olfactory receptors	14726	protein-coding gene	gene with protein product					NA		Standard		NM_001004063	NA	Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.551T>C	14.37:g.20404376T>C	ENSP00000285600:p.Val184Ala	NA	B9EKV9|Q8NGD6|Q96R73	37	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	19.35	3.811479	0.70797	.	.	ENSG00000155249	ENST00000285600	T	0.00231	8.49	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.138510	0.33854	N	0.004496	T	0.00815	0.0027	H	0.95611	3.695	0.33978	D	0.64758	P	0.50272	0.933	D	0.65573	0.936	T	0.10245	-1.0638	10	0.87932	D	0	.	12.3562	0.55176	0.0:0.0:0.0:1.0	.	184	Q8NGD4	OR4K1_HUMAN	A	184	ENSP00000285600:V184A	ENSP00000285600:V184A	V	+	2	0	OR4K1	19474216	0.125000	0.22332	1.000000	0.80357	0.927000	0.56198	2.704000	0.47118	2.011000	0.59026	0.460000	0.39030	GTG	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409881.1		+	ENST00000285600.4	Missense_Mutation	SNP	14 : 20404376 - 20404376 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	807	127
TCF7L1	83439	broad.mit.edu	37	2	85532507	85532507	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85532507C>A	ENST00000282111.3	+	8	1245	c.970C>A	c.(970-972)Ctg>Atg	p.L324M		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	324	Pro-rich.				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						ACCCCCCAGCCTGAGCCCTGC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	41	41			NA	NA	2		NA											NA				85532507		2203	4300	6503	SO:0001583	missense			X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284	83439	83439			11640	protein-coding gene	gene with protein product		604652		TCF3	NA	1741298, 11085512	Standard	NM_031283	NM_031283	NA	Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.970C>A	2.37:g.85532507C>A	ENSP00000282111:p.Leu324Met	NA	Q53R97|Q6PD70|Q9NP00	37	CCDS1971.1	.	.	.	.	.	.	.	.	.	.	C	6.159	0.397591	0.11638	.	.	ENSG00000152284	ENST00000282111	D	0.98280	-4.84	5.18	4.22	0.49857	.	0.260583	0.36519	N	0.002558	D	0.93119	0.7809	N	0.08118	0	0.28925	N	0.891913	B	0.10296	0.003	B	0.06405	0.002	D	0.87903	0.2692	10	0.46703	T	0.11	.	9.6936	0.40143	0.3492:0.6508:0.0:0.0	.	324	Q9HCS4	TF7L1_HUMAN	M	324	ENSP00000282111:L324M	ENSP00000282111:L324M	L	+	1	2	TCF7L1	85386018	0.915000	0.31059	1.000000	0.80357	0.043000	0.13939	0.246000	0.18160	2.401000	0.81631	0.591000	0.81541	CTG	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252301.2		+	ENST00000282111.3	Missense_Mutation	SNP	2 : 85532507 - 85532507 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	271	12
LAMA5	3911	broad.mit.edu	37	20	60895841	60895841	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60895841G>T	ENST00000252999.3	-	49	6668	c.6602C>A	c.(6601-6603)gCc>gAc	p.A2201D		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2201	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACGGGCCCAGGCCATGGAGCT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	42	44			NA	NA	20		NA											NA				60895841		2181	4279	6460	SO:0001583	missense			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702	3911	3911		Laminins	6485	protein-coding gene	gene with protein product		601033			NA	9271224	Standard	NM_005560	NM_005560	NA	Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.6602C>A	20.37:g.60895841G>T	ENSP00000252999:p.Ala2201Asp	NA	Q8TDF8|Q8WZA7|Q9H1P1	37	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	-	20.4	3.990041	0.74589	.	.	ENSG00000130702	ENST00000252999	T	0.12255	2.7	4.53	3.57	0.40892	Laminin I (1);	0.109081	0.64402	D	0.000008	T	0.30603	0.0770	L	0.55990	1.75	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.03175	-1.1064	10	0.72032	D	0.01	.	13.0309	0.58840	0.0797:0.0:0.9203:0.0	.	2201	O15230	LAMA5_HUMAN	D	2201	ENSP00000252999:A2201D	ENSP00000252999:A2201D	A	-	2	0	LAMA5	60329236	1.000000	0.71417	0.988000	0.46212	0.390000	0.30446	6.143000	0.71756	1.119000	0.41883	0.537000	0.68136	GCC	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080014.2		-	ENST00000252999.3	Missense_Mutation	SNP	20 : 60895841 - 60895841 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	302	54
ATF6B	1388	broad.mit.edu	37	6	32095969	32095969	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32095969G>T	ENST00000375201.4	-	1	61	c.16C>A	c.(16-18)Ctg>Atg	p.L6M	ATF6B_ENST00000468502.1_5'UTR|ATF6B_ENST00000375203.3_Missense_Mutation_p.L6M			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	6	Transcription activation.				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TCGCTGAGCAGCATCAGCTCC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	57	58			NA	NA	6		NA											NA				32095969		2203	4300	6503	SO:0001583	missense				CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676	1388	1388		basic leucine zipper proteins	2349	protein-coding gene	gene with protein product		600984	cAMP responsive element binding protein-like 1	CREBL1	NA	11256944, 14973138	Standard		NM_004381	NA	Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375201.4:c.16C>A	6.37:g.32095969G>T	ENSP00000364347:p.Leu6Met	NA	B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	37	CCDS47408.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780204	0.90195	.	.	ENSG00000213676	ENST00000375192;ENST00000375203;ENST00000375201	T;T	0.64803	-0.12;0.61	5.36	5.36	0.76844	.	0.415062	0.18475	U	0.140117	T	0.71517	0.3349	M	0.64997	1.995	0.35380	D	0.789878	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.87578	0.997;0.998;0.994	T	0.74315	-0.3705	10	0.72032	D	0.01	-16.4553	14.4499	0.67376	0.0:0.0:1.0:0.0	.	6;6;6	Q96QL7;Q99941-2;Q99941	.;.;ATF6B_HUMAN	M	6	ENSP00000364349:L6M;ENSP00000364347:L6M	ENSP00000364338:L6M	L	-	1	2	ATF6B	32203947	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.574000	0.60900	2.789000	0.95967	0.655000	0.94253	CTG	ATF6B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076637.2		-	ENST00000375201.4	Missense_Mutation	SNP	6 : 32095969 - 32095969 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	332	61
PMM2	5373	broad.mit.edu	37	16	8900240	8900240	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8900240C>T	ENST00000566983.1	+	4	446	c.242C>T	c.(241-243)gCg>gTg	p.A81V	PMM2_ENST00000537352.1_Intron|PMM2_ENST00000268261.4_Missense_Mutation_p.A108V|PMM2_ENST00000539622.1_Missense_Mutation_p.A25V|PMM2_ENST00000569958.1_Intron			O15305	PMM2_HUMAN	phosphomannomutase 2	108					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	phosphomannomutase activity			breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9						AGCTACATTGCGAAAATTAAA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(154;1308 1842 2827 29799 42829)							NA				0			GRCh37	CM971223	PMM2	M							90	87	88			NA	NA	16		NA											NA				8900240		2197	4300	6497	SO:0001583	missense			BC008310	CCDS10536.1	16p13	2012-09-06			ENSG00000140650	ENSG00000140650	5373	5373	5.3.1.8		9115	protein-coding gene	gene with protein product	phosphomannose isomerase 1	601785		CDG1	NA	9140401	Standard	NM_000303	NM_000303	NA	Approved	CDGS, CDG1a, PMI, PMI1	uc002czf.4	O15305	OTTHUMG00000129697	ENST00000566983.1:c.242C>T	16.37:g.8900240C>T	ENSP00000457956:p.Ala81Val	NA	A8K672|D3DUF3	37		.	.	.	.	.	.	.	.	.	.	C	17.23	3.335558	0.60853	.	.	ENSG00000140650	ENST00000268261;ENST00000539622	D;D	0.98777	-5.13;-5.13	5.56	5.56	0.83823	HAD-like domain (1);	0.152193	0.64402	D	0.000017	D	0.97939	0.9322	M	0.85859	2.78	0.80722	D	1	B;B;P	0.37781	0.033;0.393;0.608	B;B;B	0.31101	0.004;0.124;0.07	D	0.98847	1.0757	10	0.59425	D	0.04	-10.7806	18.5214	0.90954	0.0:1.0:0.0:0.0	.	25;108;108	F5H0W0;B7Z3M6;O15305	.;.;PMM2_HUMAN	V	108;25	ENSP00000268261:A108V;ENSP00000445879:A25V	ENSP00000268261:A108V	A	+	2	0	PMM2	8807741	0.975000	0.34042	0.250000	0.24296	0.890000	0.51754	2.371000	0.44248	2.608000	0.88229	0.591000	0.81541	GCG	PMM2-018	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000433925.1		+	ENST00000566983.1	Missense_Mutation	SNP	16 : 8900240 - 8900240 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	389	71
PPM1N	147699	broad.mit.edu	37	19	45992145	45992145	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45992145C>T	ENST00000401705.1	+	0	111				RTN2_ENST00000430715.2_Silent_p.R107R|RTN2_ENST00000245923.4_Silent_p.R447R|RTN2_ENST00000590526.1_Silent_p.R173R|RTN2_ENST00000344680.4_Silent_p.R374R			Q8N819	PPM1N_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)	NA							magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						GGAAGAAGTGCCGCAGCTGCG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	24	25			NA	NA	19		NA											NA				45992145		2203	4300	6503	SO:0001623	5_prime_UTR_variant			AK097444	CCDS46115.1	19q13.32	2012-04-17			ENSG00000213889	ENSG00000213889	147699	147699		Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent	26845	protein-coding gene	gene with protein product					NA		Standard	NM_001080401	NM_001080401	NA	Approved	FLJ40125	uc002pce.3	Q8N819	OTTHUMG00000140397	ENST00000401705.1:c.-108C>T	19.37:g.45992145C>T		NA	Q6P662	37																																																																																				PPM1N-008	KNOWN	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000326520.1		+	ENST00000401705.1	5'UTR	SNP	19 : 45992145 - 45992145 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	59	14
ARHGEF40	55701	broad.mit.edu	37	14	21547044	21547044	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21547044C>A	ENST00000298694.4	+	11	2375	c.2248C>A	c.(2248-2250)Ctg>Atg	p.L750M	ARHGEF40_ENST00000298693.3_Splice_Site_p.L750M			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	750					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CTTCCCAAGGCTGGAGGGCCA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	66	68			NA	NA	14		NA											NA				21547044		2203	4300	6503	SO:0001630	splice_region_variant				CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801	55701	55701		Rho guanine nucleotide exchange factors	25516	protein-coding gene	gene with protein product		610018			NA	16143467	Standard		NM_001278529	NA	Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.2247-1C>A	14.37:g.21547044C>A		NA	A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	37	CCDS32041.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.767847	0.31320	.	.	ENSG00000165801	ENST00000298694;ENST00000298693	T;T	0.02498	4.33;4.27	5.16	2.16	0.27623	.	0.000000	0.40385	N	0.001107	T	0.08492	0.0211	L	0.54323	1.7	0.27837	N	0.941243	D;D	0.69078	0.997;0.995	D;D	0.77004	0.989;0.979	T	0.03773	-1.1005	10	0.59425	D	0.04	.	6.0427	0.19742	0.0:0.6838:0.0:0.3162	.	750;750	Q8TER5-4;Q8TER5	.;ARH40_HUMAN	M	750	ENSP00000298694:L750M;ENSP00000298693:L750M	ENSP00000298693:L750M	L	+	1	2	ARHGEF40	20616884	0.990000	0.36364	0.994000	0.49952	0.095000	0.18619	0.077000	0.14738	0.769000	0.33313	0.462000	0.41574	CTG	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413122.1	Missense_Mutation	+	ENST00000298694.4	Splice_Site	SNP	14 : 21547044 - 21547044 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	39
WDR3	10885	broad.mit.edu	37	1	118492397	118492397	+	Silent	SNP	A	A	G	rs111307478		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118492397A>G	ENST00000349139.5	+	14	1595	c.1548A>G	c.(1546-1548)gcA>gcG	p.A516A		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	NA						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CAGGTGGTGCAGATAAATCTG	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	89	89			NA	NA	1		NA											NA				118492397		2203	4300	6503	SO:0001819	synonymous_variant			AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183	10885	10885		WD repeat domain containing	12755	protein-coding gene	gene with protein product		604737			NA	10395803	Standard	NM_006784	NM_006784	NA	Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.1548A>G	1.37:g.118492397A>G		NA		37	CCDS898.1																																																																																			WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033720.2		+	ENST00000349139.5	Silent	SNP	1 : 118492397 - 118492397 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	339	69
ATAD2B	54454	broad.mit.edu	37	2	23977640	23977640	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:23977640A>C	ENST00000238789.5	-	26	4426	c.4083T>G	c.(4081-4083)gcT>gcG	p.A1361A	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1361							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTACTTTAGAAGCACCTATAA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	61	60			NA	NA	2		NA											NA				23977640		1808	4071	5879	SO:0001819	synonymous_variant			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778	54454	54454		ATPases / AAA-type	29230	protein-coding gene	gene with protein product		615347			NA		Standard	NM_017552	XM_005264372	NA	Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.4083T>G	2.37:g.23977640A>C		NA	B9ZVQ5|Q6ZNA6|Q8N9E7	37	CCDS46227.1	.	.	.	.	.	.	.	.	.	.	A	10.15	1.270175	0.23221	.	.	ENSG00000119778	ENST00000381024	.	.	.	5.39	1.7	0.24286	.	.	.	.	.	T	0.51483	0.1677	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38908	-0.9639	4	.	.	.	.	4.9134	0.13833	0.496:0.3372:0.1669:0.0	.	.	.	.	R	637	.	.	L	-	2	0	ATAD2B	23831144	0.984000	0.35163	1.000000	0.80357	0.949000	0.60115	0.076000	0.14712	0.434000	0.26340	0.528000	0.53228	CTT	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324333.1		-	ENST00000238789.5	Silent	SNP	2 : 23977640 - 23977640 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	278	72
NCAM2	4685	broad.mit.edu	37	21	22849623	22849623	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22849623A>C	ENST00000400546.1	+	15	2157	c.1908A>C	c.(1906-1908)gaA>gaC	p.E636D	NCAM2_ENST00000284894.7_Missense_Mutation_p.E494D	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	636	Fibronectin type-III 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AAGATAAGGAAGACCAATGGC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	78	80			NA	NA	21		NA											NA				22849623		1830	4090	5920	SO:0001583	missense				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654	4685	4685		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	7657	protein-coding gene	gene with protein product		602040			NA	9226371	Standard	NM_004540	NM_004540	NA	Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1908A>C	21.37:g.22849623A>C	ENSP00000383392:p.Glu636Asp	NA	A8MQ06|Q7Z7F2	37	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	A	19.00	3.742087	0.69418	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.59224	0.28;0.28	5.8	4.67	0.58626	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.67608	0.2911	L	0.50333	1.59	0.80722	D	1	P;P	0.50617	0.937;0.937	D;D	0.72982	0.979;0.979	T	0.66432	-0.5925	10	0.42905	T	0.14	-31.9442	10.259	0.43414	0.9222:0.0:0.0778:0.0	.	494;636	B7Z5K2;O15394	.;NCAM2_HUMAN	D	636;494	ENSP00000383392:E636D;ENSP00000284894:E494D	ENSP00000284894:E494D	E	+	3	2	NCAM2	21771494	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.295000	0.65692	2.213000	0.71641	0.528000	0.53228	GAA	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000170915.1		+	ENST00000400546.1	Missense_Mutation	SNP	21 : 22849623 - 22849623 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	43
JHDM1D	0	broad.mit.edu	37	7	139829450	139829450	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139829450G>A	ENST00000397560.2	-	4	499	c.402C>T	c.(400-402)gcC>gcT	p.A134A	JHDM1D_ENST00000006967.5_Silent_p.A134A	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		134					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TTATTTCATCGGCACTAAGGA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,3665		0,1,1832	87	79	81		402	2.7	1	7		81	0,8176		0,0,4088	no	coding-synonymous	JHDM1D	NM_030647.1		0,1,5920	AA,AG,GG	NA	0.0,0.0273,0.0084		134/942	139829450	1,11841	1833	4088	5921	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000397560.2:c.402C>T	7.37:g.139829450G>A		NA	A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	37	CCDS43658.1																																																																																			JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348460.1		-	ENST00000397560.2	Silent	SNP	7 : 139829450 - 139829450 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	242	38
PTPRT	11122	broad.mit.edu	37	20	40827933	40827933	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40827933G>A	ENST00000373198.4	-	17	2730	c.2495C>T	c.(2494-2496)gCc>gTc	p.A832V	PTPRT_ENST00000373187.1_Missense_Mutation_p.A813V|PTPRT_ENST00000373201.1_Missense_Mutation_p.A803V|PTPRT_ENST00000373193.3_Missense_Mutation_p.A816V|PTPRT_ENST00000373184.1_Missense_Mutation_p.A803V|PTPRT_ENST00000373190.1_Missense_Mutation_p.A813V|PTPRT_ENST00000356100.2_Missense_Mutation_p.A822V	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	NA					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATTGCGGCTGGCGCTGAGCTT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													233	241	238			NA	NA	20		NA											NA				40827933		2052	4202	6254	SO:0001583	missense			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090	11122	11122		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	9682	protein-coding gene	gene with protein product		608712			NA	9486824, 9602027	Standard		NM_133170	NA	Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373198.4:c.2495C>T	20.37:g.40827933G>A	ENSP00000362294:p.Ala832Val	NA	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	37		.	.	.	.	.	.	.	.	.	.	G	15.62	2.886738	0.51908	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.35048	1.36;1.36;1.35;1.35;1.35;1.33;1.33	6.03	4.09	0.47781	.	0.964896	0.08646	N	0.914735	T	0.29524	0.0736	N	0.22421	0.69	0.22199	N	0.999295	B;B	0.21821	0.061;0.021	B;B	0.22152	0.038;0.017	T	0.30208	-0.9986	10	0.52906	T	0.07	.	12.3664	0.55230	0.1346:0.0:0.8654:0.0	.	835;813	O14522-1;O14522	.;PTPRT_HUMAN	V	813;813;816;822;835;803;803	ENSP00000362286:A813V;ENSP00000362283:A813V;ENSP00000362289:A816V;ENSP00000348408:A822V;ENSP00000362294:A835V;ENSP00000362280:A803V;ENSP00000362297:A803V	ENSP00000348408:A822V	A	-	2	0	PTPRT	40261347	1.000000	0.71417	0.625000	0.29200	0.909000	0.53808	5.046000	0.64226	0.884000	0.36064	0.655000	0.94253	GCC	PTPRT-005	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000080318.2		-	ENST00000373198.4	Missense_Mutation	SNP	20 : 40827933 - 40827933 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1854	193
PTPN23	25930	broad.mit.edu	37	3	47454450	47454450	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47454450G>A	ENST00000265562.4	+	25	4763	c.4686G>A	c.(4684-4686)ccG>ccA	p.P1562P	PTPN23_ENST00000431726.1_Silent_p.P1436P	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1562	Pro-rich.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGAGGAGCCGCCAGTGCCTG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4388		0,0,2194	10	13	12		4686	-3.4	0	3		12	1,8573		0,1,4286	no	coding-synonymous	PTPN23	NM_015466.2		0,1,6480	AA,AG,GG	NA	0.0117,0.0,0.0077		1562/1637	47454450	1,12961	2194	4287	6481	SO:0001819	synonymous_variant			AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201	25930	25930		Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor	14406	protein-coding gene	gene with protein product		606584			NA	11095967	Standard	NM_015466	NM_015466	NA	Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.4686G>A	3.37:g.47454450G>A		NA	A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	37	CCDS2754.1																																																																																			PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257492.2		+	ENST00000265562.4	Silent	SNP	3 : 47454450 - 47454450 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	135	19
TRAPPC2L	51693	broad.mit.edu	37	16	88925046	88925046	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88925046G>A	ENST00000567312.1	+	2	69	c.53G>A	c.(52-54)cGc>cAc	p.R18H	TRAPPC2L_ENST00000568583.1_Missense_Mutation_p.R18H|TRAPPC2L_ENST00000561840.1_Intron|TRAPPC2L_ENST00000565504.1_Missense_Mutation_p.R18H|TRAPPC2L_ENST00000567895.1_Intron|TRAPPC2L_ENST00000564365.1_5'UTR|TRAPPC2L_ENST00000301021.3_Missense_Mutation_p.R18H			Q9UL33	TPC2L_HUMAN	trafficking protein particle complex 2-like	18					ER to Golgi vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm				lung(4)|pancreas(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.0477)		CTCTACATTCGCAGCACCCCT	0.557		NA									OREG0024050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	147	154			NA	NA	16		NA											NA				88925046		2198	4300	6498	SO:0001583	missense			BC011369	CCDS10971.1	16q24.3	2008-02-05			ENSG00000167515	ENSG00000167515	51693	51693			30887	protein-coding gene	gene with protein product		610970			NA	11042152	Standard	NM_016209	NM_016209	NA	Approved	HSPC176	uc002fmc.3	Q9UL33	OTTHUMG00000137861	ENST00000567312.1:c.53G>A	16.37:g.88925046G>A	ENSP00000455235:p.Arg18His	1263	B2R4M9|Q6ZTA7|Q9NZZ4	37		.	.	.	.	.	.	.	.	.	.	G	13.36	2.214329	0.39102	.	.	ENSG00000167515	ENST00000301021	D	0.83250	-1.7	5.23	5.23	0.72850	Longin-like (1);	0.055567	0.64402	N	0.000001	T	0.77785	0.4182	L	0.50333	1.59	0.80722	D	1	B;B	0.32573	0.084;0.376	B;B	0.30572	0.016;0.117	T	0.75833	-0.3178	10	0.35671	T	0.21	-13.922	13.1498	0.59482	0.0783:0.0:0.9217:0.0	.	18;18	Q9UL33-2;Q9UL33	.;TPC2L_HUMAN	H	18	ENSP00000301021:R18H	ENSP00000301021:R18H	R	+	2	0	TRAPPC2L	87452547	1.000000	0.71417	0.998000	0.56505	0.102000	0.19082	4.661000	0.61518	2.602000	0.87976	0.655000	0.94253	CGC	TRAPPC2L-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000430345.1		+	ENST00000567312.1	Missense_Mutation	SNP	16 : 88925046 - 88925046 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1207	319
KLF15	28999	broad.mit.edu	37	3	126062615	126062615	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126062615C>T	ENST00000296233.3	-	3	1436	c.1206G>A	c.(1204-1206)gtG>gtA	p.V402V		NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	402						nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		GGAAGCGGTGCACCTTGATGT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	50	51			NA	NA	3		NA											NA				126062615		2203	4300	6503	SO:0001819	synonymous_variant			AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884	28999	28999		Kruppel-like transcription factors, Zinc fingers, C2H2-type	14536	protein-coding gene	gene with protein product	kidney-enriched Kruppel-like factor	606465			NA	10982849	Standard	NM_014079	NM_014079	NA	Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.1206G>A	3.37:g.126062615C>T		NA		37	CCDS3036.1																																																																																			KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370096.1		-	ENST00000296233.3	Silent	SNP	3 : 126062615 - 126062615 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	309	14
PALB2	79728	broad.mit.edu	37	16	23646945	23646945	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23646945C>T	ENST00000261584.4	-	4	1074	c.922G>A	c.(922-924)Gct>Act	p.A308T		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	308	Interaction with BRCA1.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TTACTTATAGCTTTATTTACA	0.353		NA	F, N, Mis			Wilms tumor, medulloblastoma, AML ,breast		Involved in tolerance or repair of DNA crosslinks						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Fanconi anaemia N, breast cancer susceptibility 	16	16p12.1	79728	partner and localizer of BRCA2		L, O, E	0													80	81	81			NA	NA	16		NA											NA				23646945		2197	4300	6497	SO:0001583	missense				CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093	79728	79728		Fanconi anemia, complementation groups	26144	protein-coding gene	gene with protein product	Fanconi anemia, complementation group N	610355			NA	16793542, 17200672	Standard	NM_024675	NM_024675	NA	Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.922G>A	16.37:g.23646945C>T	ENSP00000261584:p.Ala308Thr	NA	A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	37	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	C	9.883	1.202066	0.22121	.	.	ENSG00000083093	ENST00000261584	T	0.16457	2.34	6.07	-5.77	0.02369	.	1.442380	0.03986	N	0.294067	T	0.17916	0.0430	M	0.63428	1.95	0.09310	N	1	B	0.16802	0.019	B	0.12156	0.007	T	0.39292	-0.9621	10	0.48119	T	0.1	0.8454	8.884	0.35392	0.0:0.3679:0.1007:0.5314	.	308	Q86YC2	PALB2_HUMAN	T	308	ENSP00000261584:A308T	ENSP00000261584:A308T	A	-	1	0	PALB2	23554446	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.694000	0.05115	-1.030000	0.03312	-0.136000	0.14681	GCT	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000435287.2		-	ENST00000261584.4	Missense_Mutation	SNP	16 : 23646945 - 23646945 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	666	118
CADM1	23705	broad.mit.edu	37	11	115099861	115099861	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:115099861C>T	ENST00000452722.3	-	5	713	c.693G>A	c.(691-693)ctG>ctA	p.L231L	CADM1_ENST00000536727.1_Silent_p.L231L|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000331581.6_Silent_p.L231L|CADM1_ENST00000537058.1_Silent_p.L231L|CADM1_ENST00000542447.2_Silent_p.L231L	NM_014333.3	NP_055148.3	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	NA	Ig-like C2-type 1.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		GCTGGGTCTGCAGGTTTCCAG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	64	70			NA	NA	11		NA											NA				115099861		2201	4296	6497	SO:0001819	synonymous_variant			AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985	23705	23705		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	5951	protein-coding gene	gene with protein product	nectin-like 2	605686	tumor suppressor in lung cancer 1, immunoglobulin superfamily, member 4	TSLC1, IGSF4	NA	10610705	Standard	NM_014333	NM_014333	NA	Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.693G>A	11.37:g.115099861C>T		NA	Q86WB8|Q8N2F4	37	CCDS8373.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347509	0.24426	.	.	ENSG00000182985	ENST00000545380	.	.	.	6.17	5.27	0.74061	.	.	.	.	.	T	0.63379	0.2506	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62358	-0.6871	4	.	.	.	.	11.4478	0.50134	0.0:0.8637:0.0:0.1363	.	.	.	.	T	230	.	.	A	-	1	0	CADM1	114605071	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	2.673000	0.46858	1.627000	0.50400	0.655000	0.94253	GCA	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398753.2		-	ENST00000452722.3	Silent	SNP	11 : 115099861 - 115099861 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	44
SLC22A2	6582	broad.mit.edu	37	6	160679678	160679678	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160679678C>T	ENST00000366952.1	-	3	1530	c.49G>A	c.(49-51)Gtg>Atg	p.V17M	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Missense_Mutation_p.V38M			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	38					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		ACGATGCCCACGTAGATGGGC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	44	43			NA	NA	6		NA											NA				160679678		2203	4300	6503	SO:0001583	missense			X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499	6582	6582		Solute carriers	10966	protein-coding gene	gene with protein product		602608			NA	9605850	Standard	NM_003058	NM_003058	NA	Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366952.1:c.49G>A	6.37:g.160679678C>T	ENSP00000355919:p.Val17Met	NA	Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	37		.	.	.	.	.	.	.	.	.	.	C	18.68	3.676933	0.67928	.	.	ENSG00000112499	ENST00000366953;ENST00000366952	T;T	0.73469	-0.75;-0.74	5.22	5.22	0.72569	Major facilitator superfamily domain (1);	0.136685	0.48767	D	0.000163	T	0.70011	0.3175	L	0.39692	1.235	0.43574	D	0.995904	D;D;D	0.64830	0.988;0.97;0.994	P;B;P	0.54140	0.726;0.298;0.743	T	0.65549	-0.6141	10	0.25751	T	0.34	.	18.9747	0.92731	0.0:1.0:0.0:0.0	.	38;38;38	O15244-3;O15244;O15244-2	.;S22A2_HUMAN;.	M	38;17	ENSP00000355920:V38M;ENSP00000355919:V17M	ENSP00000355919:V17M	V	-	1	0	SLC22A2	160599668	0.999000	0.42202	0.982000	0.44146	0.709000	0.40893	4.177000	0.58276	2.701000	0.92244	0.557000	0.71058	GTG	SLC22A2-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000042945.1		-	ENST00000366952.1	Missense_Mutation	SNP	6 : 160679678 - 160679678 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	555	24
IFNA10	3446	broad.mit.edu	37	9	21206625	21206625	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:21206625T>C	ENST00000357374.2	-	1	517	c.472A>G	c.(472-474)Aaa>Gaa	p.K158E		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	158					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		GGGCTGTATTTCCTCTCTATT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													275	279	277			NA	NA	9		NA											NA				21206625		2203	4300	6503	SO:0001583	missense				CCDS6499.1	9p22	2010-08-24			ENSG00000186803	ENSG00000186803	3446	3446		Interferons	5418	protein-coding gene	gene with protein product		147577			NA	1385305	Standard	NM_002171	NM_002171	NA	Approved	IFN-alphaC	uc003zoq.1	P01566	OTTHUMG00000019658	ENST00000357374.2:c.472A>G	9.37:g.21206625T>C	ENSP00000369566:p.Lys158Glu	NA	Q5VV13	37	CCDS6499.1	.	.	.	.	.	.	.	.	.	.	-	11.46	1.644157	0.29246	.	.	ENSG00000186803	ENST00000357374	T	0.05447	3.44	3.75	-0.534	0.11883	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.731033	0.13799	N	0.361970	T	0.06280	0.0162	L	0.45581	1.43	0.09310	N	0.999998	B	0.14805	0.011	B	0.26770	0.073	T	0.37911	-0.9685	10	0.32370	T	0.25	.	6.4822	0.22069	0.0:0.5697:0.0:0.4303	.	158	P01566	IFN10_HUMAN	E	158	ENSP00000369566:K158E	ENSP00000369566:K158E	K	-	1	0	IFNA10	21196625	0.000000	0.05858	0.015000	0.15790	0.414000	0.31173	-0.713000	0.05007	0.044000	0.15775	0.409000	0.27619	AAA	IFNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051887.1		-	ENST00000357374.2	Missense_Mutation	SNP	9 : 21206625 - 21206625 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2172	88
PTPN23	25930	broad.mit.edu	37	3	47449834	47449834	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47449834G>T	ENST00000265562.4	+	15	1261		c.e15-1		PTPN23_ENST00000431726.1_Splice_Site	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	NA					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCTCCCCACAGCCAGTTCATG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	74	76			NA	NA	3		NA											NA				47449834		2203	4300	6503	SO:0001630	splice_region_variant			AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201	25930	25930		Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor	14406	protein-coding gene	gene with protein product		606584			NA	11095967	Standard	NM_015466	NM_015466	NA	Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.1185-1G>T	3.37:g.47449834G>T		NA	A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	37	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477482	0.63849	.	.	ENSG00000076201	ENST00000456408;ENST00000265562	.	.	.	4.2	4.2	0.49525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4941	0.75634	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPN23	47424838	1.000000	0.71417	0.990000	0.47175	0.727000	0.41649	9.305000	0.96197	2.195000	0.70347	0.557000	0.71058	.	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257492.2	Intron	+	ENST00000265562.4	Splice_Site	SNP	3 : 47449834 - 47449834 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	428	64
DNAH1	25981	broad.mit.edu	37	3	52418934	52418934	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52418934G>A	ENST00000420323.2	+	53	8716	c.8455G>A	c.(8455-8457)Ggg>Agg	p.G2819R		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2819	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CATCCTCATCGGGCAGAAGAA	0.567		NA									OREG0015612	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ARG/GLY	0,4082		0,0,2041	41	43	42		8455	4.4	1	3		42	1,8375		0,1,4187	no	missense	DNAH1	NM_015512.4	125	0,1,6228	AA,AG,GG	NA	0.0119,0.0,0.0080	benign	2819/4266	52418934	1,12457	2041	4188	6229	SO:0001583	missense			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841	25981	25981		Axonemal dyneins	2940	protein-coding gene	gene with protein product		603332	dynein, axonemal, heavy polypeptide 1		NA	8812413, 9256245	Standard	NM_015512	NM_015512	NA	Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.8455G>A	3.37:g.52418934G>A	ENSP00000401514:p.Gly2819Arg	984	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305031	0.40795	0.0	1.19E-4	ENSG00000114841	ENST00000420323	T	0.42131	0.98	4.38	4.38	0.52667	.	0.122893	0.36740	N	0.002422	T	0.37461	0.1004	L	0.50919	1.6	0.52099	D	0.99994	B	0.25772	0.134	B	0.16722	0.016	T	0.19095	-1.0316	10	0.20519	T	0.43	.	17.1091	0.86670	0.0:0.0:1.0:0.0	.	2819	C9JXH6	.	R	2819	ENSP00000401514:G2819R	ENSP00000401514:G2819R	G	+	1	0	DNAH1	52393974	1.000000	0.71417	0.984000	0.44739	0.950000	0.60333	5.038000	0.64177	2.287000	0.76781	0.561000	0.74099	GGG	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350816.1		+	ENST00000420323.2	Missense_Mutation	SNP	3 : 52418934 - 52418934 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	142	28
SEC16B	89866	broad.mit.edu	37	1	177930826	177930826	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177930826G>A	ENST00000308284.6	-	6	775	c.686C>T	c.(685-687)tCt>tTt	p.S229F	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Missense_Mutation_p.S229F	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	229					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GCTGAGACCAGACTCACGCTG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	50	49			NA	NA	1		NA											NA				177930826		1971	4160	6131	SO:0001583	missense			AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341	89866	89866			30301	protein-coding gene	gene with protein product	regucalcin gene promotor region related protein	612855	leucine zipper transcription regulator 2	LZTR2	NA	11572484, 11605020	Standard	NM_033127	NM_033127	NA	Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.686C>T	1.37:g.177930826G>A	ENSP00000308339:p.Ser229Phe	NA	A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	37	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297096	0.81025	.	.	ENSG00000120341	ENST00000308284;ENST00000464631	T;T	0.50813	2.31;0.73	5.79	5.79	0.91817	.	0.086330	0.51477	D	0.000092	T	0.59595	0.2205	M	0.66939	2.045	0.49687	D	0.999813	D;D;D	0.59357	0.985;0.985;0.985	P;P;P	0.55923	0.787;0.771;0.771	T	0.52866	-0.8518	10	0.11485	T	0.65	-13.7531	17.8165	0.88635	0.0:0.0:1.0:0.0	.	229;229;229	E9PK14;B1AM08;Q96JE7	.;.;SC16B_HUMAN	F	229	ENSP00000308339:S229F;ENSP00000431727:S229F	ENSP00000308339:S229F	S	-	2	0	AL359075.1	176197449	1.000000	0.71417	0.985000	0.45067	0.640000	0.38277	4.685000	0.61693	2.731000	0.93534	0.650000	0.86243	TCT	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084773.16		-	ENST00000308284.6	Missense_Mutation	SNP	1 : 177930826 - 177930826 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	217	34
ANKRD13A	88455	broad.mit.edu	37	12	110450942	110450942	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110450942C>T	ENST00000261739.4	+	3	408	c.242C>T	c.(241-243)gCt>gTt	p.A81V	ANKRD13A_ENST00000550404.1_3'UTR	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	81										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						TTACATGAGGCTGTGAGCACT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	88	94			NA	NA	12		NA											NA				110450942		2203	4300	6503	SO:0001583	missense			AF064604	CCDS9140.1	12q24.12	2013-01-10	2006-06-30	2006-06-30		ENSG00000076513	88455	88455		Ankyrin repeat domain containing	21268	protein-coding gene	gene with protein product		615123	ankyrin repeat domain 13	ANKRD13	NA	10508479	Standard	NM_033121	NM_033121	NA	Approved	NY-REN-25	uc001tpx.3	Q8IZ07	OTTHUMG00000169314	ENST00000261739.4:c.242C>T	12.37:g.110450942C>T	ENSP00000261739:p.Ala81Val	NA	O60736	37	CCDS9140.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189695	0.78789	.	.	ENSG00000076513	ENST00000261739	D	0.87491	-2.26	5.96	5.96	0.96718	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.94407	0.8201	M	0.84846	2.72	0.80722	D	1	P;D;D	0.89917	0.955;1.0;0.999	P;D;D	0.87578	0.698;0.998;0.994	D	0.94044	0.7312	10	0.56958	D	0.05	-4.7707	19.4101	0.94667	0.0:1.0:0.0:0.0	.	81;81;81	B4DYP5;Q3ZTS7;Q8IZ07	.;.;AN13A_HUMAN	V	81	ENSP00000261739:A81V	ENSP00000261739:A81V	A	+	2	0	ANKRD13A	108935325	1.000000	0.71417	0.999000	0.59377	0.874000	0.50279	7.734000	0.84928	2.832000	0.97577	0.655000	0.94253	GCT	ANKRD13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403430.1		+	ENST00000261739.4	Missense_Mutation	SNP	12 : 110450942 - 110450942 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	53
POT1	25913	broad.mit.edu	37	7	124483018	124483018	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:124483018C>A	ENST00000357628.3	-	13	1605		c.e13-1		POT1_ENST00000393329.1_Splice_Site	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	NA					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TCTGTAAGTACTGTAAAGAAT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)							NA				0													70	63	66			NA	NA	7		NA											NA				124483018		2203	4300	6503	SO:0001630	splice_region_variant			AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513	25913	25913			17284	protein-coding gene	gene with protein product		606478	protection of telomeres 1 homolog (S. pombe)		NA	11349150, 12391173	Standard		NR_003102	NA	Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.1007-1G>T	7.37:g.124483018C>A		NA	O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	37	CCDS5793.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863051	0.51482	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000265391	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.207	0.89858	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	POT1	124270254	1.000000	0.71417	0.997000	0.53966	0.663000	0.39108	5.582000	0.67477	2.641000	0.89580	0.591000	0.81541	.	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347861.1	Intron	-	ENST00000357628.3	Splice_Site	SNP	7 : 124483018 - 124483018 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	118	22
SKA3	221150	broad.mit.edu	37	13	21729846	21729846	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21729846G>A	ENST00000400018.3	-	8	1189				SKA3_ENST00000314759.5_Silent_p.S408S	NM_001166017.1	NP_001159489.1	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	NA					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TTTCTTTGTTGCTGACATCTC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	170	172			NA	NA	13		NA											NA				21729846		2203	4300	6503	SO:0001627	intron_variant			AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480	221150	221150			20262	protein-coding gene	gene with protein product			chromosome 13 open reading frame 3	C13orf3	NA	19387489, 19289083, 19646878, 19360002	Standard	NM_145061	NM_145061	NA	Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000400018.3:c.1120-557C>T	13.37:g.21729846G>A		NA	A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	37	CCDS53856.1																																																																																			SKA3-006	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000272913.1		-	ENST00000400018.3	Intron	SNP	13 : 21729846 - 21729846 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	578	69
CCDC92	80212	broad.mit.edu	37	12	124422143	124422143	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124422143C>A	ENST00000545891.1	-	4	629	c.407G>T	c.(406-408)aGc>aTc	p.S136I	CCDC92_ENST00000545135.1_Missense_Mutation_p.S136I|CCDC92_ENST00000238156.3_Missense_Mutation_p.S153I|CCDC92_ENST00000544798.1_Intron			Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	153										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		GGCGATGGTGCTGGCCCGCTG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	97	103			NA	NA	12		NA											NA				124422143		2203	4300	6503	SO:0001583	missense			AK026124	CCDS9256.1	12q24.31	2011-09-02			ENSG00000119242	ENSG00000119242	80212	80212			29563	protein-coding gene	gene with protein product	limkain beta 2				NA	12477932	Standard	NM_025140	NM_025140	NA	Approved	FLJ22471	uc001ufw.1	Q53HC0	OTTHUMG00000168725	ENST00000545891.1:c.407G>T	12.37:g.124422143C>A	ENSP00000440024:p.Ser136Ile	NA	Q9H697	37		.	.	.	.	.	.	.	.	.	.	c	15.38	2.816209	0.50527	.	.	ENSG00000119242	ENST00000238156;ENST00000545135;ENST00000545891	T;T;T	0.25414	1.8;1.82;1.82	5.56	2.74	0.32292	.	0.466412	0.27323	N	0.019897	T	0.24509	0.0594	M	0.72479	2.2	0.40073	D	0.976031	P	0.36909	0.573	B	0.32289	0.143	T	0.03597	-1.1021	10	0.44086	T	0.13	-3.2303	8.999	0.36069	0.0:0.7439:0.1223:0.1337	.	153	Q53HC0	CCD92_HUMAN	I	153;136;136	ENSP00000238156:S153I;ENSP00000439526:S136I;ENSP00000440024:S136I	ENSP00000238156:S153I	S	-	2	0	CCDC92	122988096	1.000000	0.71417	0.820000	0.32676	0.100000	0.18952	4.971000	0.63749	0.305000	0.22832	-0.226000	0.12346	AGC	CCDC92-003	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000400791.1		-	ENST00000545891.1	Missense_Mutation	SNP	12 : 124422143 - 124422143 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	583	146
NCR1	9437	broad.mit.edu	37	19	55423572	55423572	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55423572C>T	ENST00000594765.1	+	6	741	c.716C>T	c.(715-717)aCg>aTg	p.T239M	NCR1_ENST00000291890.4_Missense_Mutation_p.T240M|NCR1_ENST00000447255.1_Missense_Mutation_p.T239M|NCR1_ENST00000338835.5_Intron|NCR1_ENST00000598576.1_Missense_Mutation_p.T227M|NCR1_ENST00000357397.5_Missense_Mutation_p.T133M|NCR1_ENST00000350790.5_Missense_Mutation_p.T145M			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	240					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		ACCACAGAGACGGGACTCCAG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	121	124			NA	NA	19		NA											NA				55423572		2203	4300	6503	SO:0001583	missense			AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430	9437	9437		CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	6731	protein-coding gene	gene with protein product		604530	lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)	LY94	NA	9730896	Standard		NM_001145457	NA	Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000594765.1:c.716C>T	19.37:g.55423572C>T	ENSP00000471986:p.Thr239Met	NA	B0V3L3|B8JL03|O76016|O76017|O76018	37	CCDS46181.1	.	.	.	.	.	.	.	.	.	.	C	6.539	0.467713	0.12402	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000350790;ENST00000357397	T;T;T;T	0.00561	6.86;6.89;6.85;6.59	2.54	-0.969	0.10310	.	619.523000	0.00166	N	0.000000	T	0.00468	0.0015	L	0.51914	1.62	0.09310	N	1	P;P;P;P	0.39480	0.675;0.546;0.675;0.546	B;B;B;B	0.21360	0.034;0.026;0.034;0.015	T	0.48007	-0.9072	10	0.59425	D	0.04	.	2.4668	0.04554	0.2339:0.4865:0.0:0.2796	.	133;145;239;240	O76036-5;B0V3L2;O76036-6;O76036	.;.;.;NCTR1_HUMAN	M	240;239;145;133	ENSP00000291890:T240M;ENSP00000404434:T239M;ENSP00000344358:T145M;ENSP00000349972:T133M	ENSP00000291890:T240M	T	+	2	0	NCR1	60115384	0.000000	0.05858	0.000000	0.03702	0.138000	0.21146	-0.221000	0.09202	-0.097000	0.12307	-0.124000	0.14976	ACG	NCR1-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465684.1		+	ENST00000594765.1	Missense_Mutation	SNP	19 : 55423572 - 55423572 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	598	107
PGM3	5238	broad.mit.edu	37	6	83877656	83877656	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83877656G>A	ENST00000512866.1	-	13	1676				DOPEY1_ENST00000369739.3_Missense_Mutation_p.V2401M|DOPEY1_ENST00000349129.2_Missense_Mutation_p.V2390M|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.V2294M|PGM3_ENST00000513973.1_3'UTR	NM_001199919.1	NP_001186848.1	O95394	AGM1_HUMAN	phosphoglucomutase 3	NA					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		CATCTGCACCGTGCGCAGTAT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	56	58			NA	NA	6		NA											NA				83877656		2203	4300	6503	SO:0001627	intron_variant			BC001258	CCDS4997.1, CCDS56435.1, CCDS56436.1, CCDS75487.1	6q14.1-q15	2012-10-02			ENSG00000013375	ENSG00000013375	5238	5238	5.4.2.3		8907	protein-coding gene	gene with protein product	acetylglucosamine phosphomutase	172100			NA	12174217, 10721701	Standard	NM_015599	NM_001199917	NA	Approved	AGM1, DKFZP434B187, PAGM	uc011dyz.2	O95394	OTTHUMG00000015110	ENST00000512866.1:c.1621+1304C>T	6.37:g.83877656G>A		NA	B2RB65|E1P547|Q5JWR4|Q96J46|Q9H8G5|Q9NS94|Q9NTT6|Q9UFV5|Q9UIY2	37	CCDS56435.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.401973	0.25291	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.51574	0.7;1.68	5.76	4.88	0.63580	.	0.118362	0.56097	N	0.000021	T	0.17916	0.0430	N	0.24115	0.695	0.80722	D	1	B;B;B	0.15473	0.013;0.011;0.011	B;B;B	0.08055	0.003;0.003;0.003	T	0.07481	-1.0770	10	0.54805	T	0.06	.	9.5589	0.39357	0.1621:0.0:0.8379:0.0	.	2281;2381;2390	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	M	2390;2294;2294	ENSP00000195654:V2390M;ENSP00000237163:V2294M	ENSP00000237163:V2294M	V	+	1	0	DOPEY1	83934375	1.000000	0.71417	0.995000	0.50966	0.497000	0.33675	4.475000	0.60210	1.413000	0.46997	0.655000	0.94253	GTG	PGM3-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366386.1		-	ENST00000512866.1	Intron	SNP	6 : 83877656 - 83877656 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	173	43
JTB	10899	broad.mit.edu	37	1	153947167	153947167	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153947167G>A	ENST00000271843.4	-	5	864	c.429C>T	c.(427-429)atC>atT	p.I143I	JTB_ENST00000356648.1_Silent_p.I114I|JTB_ENST00000368589.1_Silent_p.I114I	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	jumping translocation breakpoint	143					apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATATGGACTCGATTTGCTTCC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	137	140			NA	NA	1		NA											NA				153947167		2203	4300	6503	SO:0001819	synonymous_variant			AB016488	CCDS1057.1	1q21	2010-11-16			ENSG00000143543	ENSG00000143543	10899	10899			6201	protein-coding gene	gene with protein product	prostate androgen-regulated gene	604671			NA	10321732	Standard	NM_006694	NM_006694	NA	Approved	hJT	uc001fds.3	O76095	OTTHUMG00000036590	ENST00000271843.4:c.429C>T	1.37:g.153947167G>A		NA	O95442|Q6IB19|Q9P0Q4	37	CCDS1057.1																																																																																			JTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088996.1		-	ENST00000271843.4	Silent	SNP	1 : 153947167 - 153947167 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	819	69
CSF1R	1436	broad.mit.edu	37	5	149439327	149439327	+	Missense_Mutation	SNP	C	C	T	rs141866247		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149439327C>T	ENST00000286301.3	-	15	2359	c.2068G>A	c.(2068-2070)Ggc>Agc	p.G690S		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	690	Protein kinase.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GGGTCCTGGCCGGGGCTCAGG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	SER/GLY	2,4404	4.2+/-10.8	0,2,2201	63	67	66		2068	3.9	0.2	5	dbSNP_134	66	0,8600		0,0,4300	no	missense	CSF1R	NM_005211.3	56	0,2,6501	TT,TC,CC	NA	0.0,0.0454,0.0154	possibly-damaging	690/973	149439327	2,13004	2203	4300	6503	SO:0001583	missense			U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578	1436	1436		CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	2433	protein-coding gene	gene with protein product		164770	McDonough feline sarcoma viral (v-fms) oncogene homolog	FMS	NA	1611909	Standard	NM_005211	NM_005211	NA	Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.2068G>A	5.37:g.149439327C>T	ENSP00000286301:p.Gly690Ser	NA	D3DQG2|Q6LDW5|Q6LDY4	37	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999846	0.35320	4.54E-4	0.0	ENSG00000182578	ENST00000286301	T	0.77098	-1.07	4.79	3.92	0.45320	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.588531	0.15014	N	0.285361	T	0.61274	0.2334	L	0.33339	1.005	0.21782	N	0.999544	D	0.54601	0.967	B	0.37888	0.26	T	0.53865	-0.8378	10	0.35671	T	0.21	.	6.1275	0.20187	0.1519:0.6892:0.0:0.1589	.	690	P07333	CSF1R_HUMAN	S	690	ENSP00000286301:G690S	ENSP00000286301:G690S	G	-	1	0	CSF1R	149419520	0.000000	0.05858	0.158000	0.22627	0.047000	0.14425	0.720000	0.25896	1.336000	0.45506	0.561000	0.74099	GGC	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252329.2		-	ENST00000286301.3	Missense_Mutation	SNP	5 : 149439327 - 149439327 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	527	88
PBRM1	55193	broad.mit.edu	37	3	52637690	52637690	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52637690G>A	ENST00000409114.3	-	18	2673	c.2671C>T	c.(2671-2673)Cgt>Tgt	p.R891C	PBRM1_ENST00000409767.1_Missense_Mutation_p.R891C|PBRM1_ENST00000337303.4_Missense_Mutation_p.R876C|PBRM1_ENST00000409057.1_Missense_Mutation_p.R876C|PBRM1_ENST00000296302.7_Missense_Mutation_p.R876C|PBRM1_ENST00000356770.4_Missense_Mutation_p.R844C|PBRM1_ENST00000394830.3_Missense_Mutation_p.R876C|PBRM1_ENST00000410007.1_Missense_Mutation_p.R876C			Q86U86	PB1_HUMAN	polybromo 1	876					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGTTCATCACGAATTTTAATA	0.353		NA	Mis, N, F, S, D, O		clear cell renal carcinoma, breast									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		3	3p21	55193	polybromo 1		E	0													66	63	64			NA	NA	3		NA											NA				52637690		2203	4300	6503	SO:0001583	missense			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939	55193	55193			30064	protein-coding gene	gene with protein product		606083			NA	11078522, 11483580	Standard	NM_018165	NM_018313	NA	Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000409114.3:c.2671C>T	3.37:g.52637690G>A	ENSP00000386643:p.Arg891Cys	NA	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	37		.	.	.	.	.	.	.	.	.	.	G	21.4	4.149176	0.78001	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.60920	0.16;0.2;0.15;0.16;0.17;0.17;0.63;0.17;0.21;0.28	5.72	5.72	0.89469	Bromodomain (3);	0.000000	0.85682	D	0.000000	T	0.79263	0.4416	M	0.80422	2.495	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.80529	-0.1342	10	0.87932	D	0	-20.1551	20.2504	0.98404	0.0:0.0:1.0:0.0	.	876;876;876;876;891;891;876;844;876	Q86U86-9;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	C	844;876;876;876;876;876;891;891;876;835	ENSP00000349213:R844C;ENSP00000378307:R876C;ENSP00000296302:R876C;ENSP00000338302:R876C;ENSP00000386593:R876C;ENSP00000386529:R876C;ENSP00000386643:R891C;ENSP00000386601:R891C;ENSP00000387775:R876C;ENSP00000397662:R835C	ENSP00000296302:R876C	R	-	1	0	PBRM1	52612730	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.236000	0.51336	2.850000	0.98022	0.650000	0.86243	CGT	PBRM1-006	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000327230.1		-	ENST00000409114.3	Missense_Mutation	SNP	3 : 52637690 - 52637690 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	209	34
MAP3K9	4293	broad.mit.edu	37	14	71267541	71267541	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71267541C>T	ENST00000554752.2	-	2	662	c.663G>A	c.(661-663)gaG>gaA	p.E221E	MAP3K9_ENST00000381250.4_Silent_p.E221E|MAP3K9_ENST00000555993.2_Silent_p.E221E	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	221	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CACGAGCAAACTCCATGACCA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(114;411 1587 13539 28235 50070)							NA				0													104	92	96			NA	NA	14		NA											NA				71267541		2203	4300	6503	SO:0001819	synonymous_variant			AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432	4293	4293		Mitogen-activated protein kinase cascade / Kinase kinase kinases	6861	protein-coding gene	gene with protein product		600136		MLK1	NA		Standard		NM_001284231	NA	Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.663G>A	14.37:g.71267541C>T		NA	A3KN85|Q0D2G7|Q6EH31|Q9H2N5	37																																																																																				MAP3K9-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000412550.2		-	ENST00000554752.2	Silent	SNP	14 : 71267541 - 71267541 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	389	55
KCNA10	3744	broad.mit.edu	37	1	111060913	111060913	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111060913A>C	ENST00000369771.2	-	1	884	c.497T>G	c.(496-498)aTc>aGc	p.I166S		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	166						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		ATAGAAGGAGATTTCATCAGC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	87	87			NA	NA	1		NA											NA				111060913		2203	4300	6503	SO:0001583	missense			U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105	3744	3744		Potassium channels, Voltage-gated ion channels / Potassium channels	6219	protein-coding gene	gene with protein product		602420			NA	16382104	Standard	NM_005549	NM_005549	NA	Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.497T>G	1.37:g.111060913A>C	ENSP00000358786:p.Ile166Ser	NA		37	CCDS826.1	.	.	.	.	.	.	.	.	.	.	A	19.30	3.801845	0.70682	.	.	ENSG00000143105	ENST00000369771	T	0.79141	-1.24	5.93	5.93	0.95920	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.049923	0.85682	D	0.000000	D	0.89996	0.6877	H	0.94964	3.605	0.58432	D	0.999999	D	0.53462	0.96	D	0.72338	0.977	D	0.92567	0.6063	10	0.87932	D	0	.	15.1961	0.73088	1.0:0.0:0.0:0.0	.	166	Q16322	KCA10_HUMAN	S	166	ENSP00000358786:I166S	ENSP00000358786:I166S	I	-	2	0	KCNA10	110862436	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.339000	0.96797	2.257000	0.74773	0.533000	0.62120	ATC	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059081.1		-	ENST00000369771.2	Missense_Mutation	SNP	1 : 111060913 - 111060913 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	76
FBXO34	55030	broad.mit.edu	37	14	55818571	55818571	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55818571G>A	ENST00000313833.4	+	2	1708	c.1463G>A	c.(1462-1464)gGt>gAt	p.G488D	FBXO34_ENST00000440021.1_Missense_Mutation_p.G488D	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	488										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						TTGCCACCTGGTCAGCACTTG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	91	91			NA	NA	14		NA											NA				55818571		2203	4300	6503	SO:0001583	missense			AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974	55030	55030		F-boxes /  other	20201	protein-coding gene	gene with protein product		609104	F-box only protein 34		NA		Standard		NM_017943	NA	Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1463G>A	14.37:g.55818571G>A	ENSP00000313159:p.Gly488Asp	NA	Q2VPB5|Q86TY4	37	CCDS32086.1	.	.	.	.	.	.	.	.	.	.	G	6.685	0.495072	0.12762	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.17054	2.3;2.3	5.19	1.27	0.21489	.	0.678775	0.13082	N	0.415215	T	0.15998	0.0385	M	0.66939	2.045	0.09310	N	0.999995	B	0.17667	0.023	B	0.16722	0.016	T	0.31447	-0.9943	10	0.21014	T	0.42	-21.5041	5.5875	0.17283	0.2199:0.3356:0.4444:0.0	.	488	Q9NWN3	FBX34_HUMAN	D	488	ENSP00000313159:G488D;ENSP00000394117:G488D	ENSP00000313159:G488D	G	+	2	0	FBXO34	54888324	0.584000	0.26766	0.391000	0.26233	0.703000	0.40648	0.752000	0.26362	0.421000	0.25980	0.655000	0.94253	GGT	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411322.1		+	ENST00000313833.4	Missense_Mutation	SNP	14 : 55818571 - 55818571 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	654	117
GABRA4	2557	broad.mit.edu	37	4	46979547	46979547	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46979547G>A	ENST00000264318.3	-	4	1356	c.374C>T	c.(373-375)aCg>aTg	p.T125M		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	125					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCACACTTTCGTTACCATCAT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(6;283 369 8234 12290 33402)							NA				0													106	103	104			NA	NA	4		NA											NA				46979547		2203	4300	6503	SO:0001583	missense				CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158	2557	2557		GABA receptors, Ligand-gated ion channels / GABA(A) receptors	4078	protein-coding gene	gene with protein product	GABA(A) receptor, alpha 4	137141			NA	7607683	Standard		NM_000809	NA	Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.374C>T	4.37:g.46979547G>A	ENSP00000264318:p.Thr125Met	NA	Q8IYR7	37	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500609	0.64298	.	.	ENSG00000109158	ENST00000264318	T	0.78003	-1.14	5.34	5.34	0.76211	Neurotransmitter-gated ion-channel ligand-binding (3);	0.101631	0.64402	D	0.000003	T	0.68632	0.3022	N	0.14661	0.345	0.38479	D	0.947676	P	0.45986	0.87	P	0.46237	0.508	T	0.75755	-0.3206	10	0.87932	D	0	.	13.8844	0.63699	0.0:0.1523:0.8477:0.0	.	125	P48169	GBRA4_HUMAN	M	125	ENSP00000264318:T125M	ENSP00000264318:T125M	T	-	2	0	GABRA4	46674304	1.000000	0.71417	0.996000	0.52242	0.925000	0.55904	2.977000	0.49297	2.776000	0.95493	0.650000	0.86243	ACG	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216893.1		-	ENST00000264318.3	Missense_Mutation	SNP	4 : 46979547 - 46979547 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	64
ZNF568	374900	broad.mit.edu	37	19	37440777	37440777	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37440777A>G	ENST00000415168.1	+	5	906	c.530A>G	c.(529-531)gAg>gGg	p.E177G	ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.E241G|ZNF568_ENST00000455427.2_Intron	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTAGACATGAGCGAATTCAT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	62	61			NA	NA	19		NA											NA				37440777		2098	4262	6360	SO:0001583	missense			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453	374900	374900		Zinc fingers, C2H2-type, -	25392	protein-coding gene	gene with protein product					NA		Standard	NM_198539	NM_198539	NA	Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000415168.1:c.530A>G	19.37:g.37440777A>G	ENSP00000394514:p.Glu177Gly	NA	Q6N060|Q8NA64	37	CCDS56092.1	.	.	.	.	.	.	.	.	.	.	A	10.42	1.345033	0.24426	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	T;T	0.07444	3.19;3.19	3.83	0.267	0.15622	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.440276	0.16878	N	0.195807	T	0.07143	0.0181	L	0.46157	1.445	0.21627	N	0.999615	B	0.06786	0.001	B	0.15484	0.013	T	0.29731	-1.0002	10	0.62326	D	0.03	.	4.1248	0.10123	0.5954:0.0:0.0947:0.3099	.	241	Q3ZCX4	ZN568_HUMAN	G	241;177	ENSP00000334685:E241G;ENSP00000394514:E177G	ENSP00000334685:E241G	E	+	2	0	ZNF568	42132617	0.000000	0.05858	0.016000	0.15963	0.936000	0.57629	0.280000	0.18790	-0.157000	0.11059	0.528000	0.53228	GAG	ZNF568-005	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000338316.2		+	ENST00000415168.1	Missense_Mutation	SNP	19 : 37440777 - 37440777 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	303	74
SLCO5A1	81796	broad.mit.edu	37	8	70585410	70585410	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70585410G>A	ENST00000524945.1	-	0	2892				SLCO5A1_ENST00000260126.4_Silent_p.F747F|SLCO5A1_ENST00000530307.1_Silent_p.F692F	NM_001146008.1	NP_001139480.1	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	NA						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TAAACCCAACGAATTTGAGGC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	96	95			NA	NA	8		NA											NA				70585410		2203	4300	6503	SO:0001624	3_prime_UTR_variant			AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571	81796	81796		Solute carriers	19046	protein-coding gene	gene with protein product		613543	solute carrier family 21 (organic anion transporter), member 15	SLC21A15	NA	12507753	Standard	NM_030958	NM_030958	NA	Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000524945.1:c.*112C>T	8.37:g.70585410G>A		NA	B2RPF7	37	CCDS55243.1																																																																																			SLCO5A1-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381991.1		-	ENST00000524945.1	3'UTR	SNP	8 : 70585410 - 70585410 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	455	95
PDLIM3	27295	broad.mit.edu	37	4	186423604	186423604	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186423604C>T	ENST00000284770.5	-	8	1012	c.939G>A	c.(937-939)cgG>cgA	p.R313R	PDLIM3_ENST00000284771.6_Silent_p.R265R|PDLIM3_ENST00000284767.5_3'UTR	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	313	LIM zinc-binding.					sarcomere	zinc ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		ACTCAGGGTGCCGGTACTTAT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	99	103			NA	NA	4		NA											NA				186423604		2203	4300	6503	SO:0001819	synonymous_variant			AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553	27295	27295			20767	protein-coding gene	gene with protein product		605889			NA	10063829, 8828038	Standard	NM_014476	NM_014476	NA	Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.939G>A	4.37:g.186423604C>T		NA	B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	37	CCDS3844.1																																																																																			PDLIM3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360499.2		-	ENST00000284770.5	Silent	SNP	4 : 186423604 - 186423604 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	554	96
SEMA7A	8482	broad.mit.edu	37	15	74708920	74708920	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74708920C>T	ENST00000261918.4	-	7	1345	c.797G>A	c.(796-798)tGc>tAc	p.C266Y	SEMA7A_ENST00000542748.1_Missense_Mutation_p.C101Y|SEMA7A_ENST00000543145.2_Missense_Mutation_p.C252Y	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	266	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GCTCACCCTGCACAACTGGGC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													185	152	163			NA	NA	15		NA											NA				74708920		2197	4296	6493	SO:0001583	missense			AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623	8482	8482		Semaphorins, CD molecules, Blood group antigens, Immunoglobulin superfamily / Immunoglobulin-like domain containing	10741	protein-coding gene	gene with protein product	John Milton Hagen blood group, H-Sema K1	607961	sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A, sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)	SEMAL	NA	9721204	Standard	NM_003612	NM_003612	NA	Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.797G>A	15.37:g.74708920C>T	ENSP00000261918:p.Cys266Tyr	NA	Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	37	CCDS10262.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439914	0.63067	.	.	ENSG00000138623	ENST00000261918;ENST00000543145;ENST00000542748	D;D;D	0.90133	-2.62;-2.62;-2.62	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	D	0.96599	0.8890	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97514	1.0068	10	0.87932	D	0	-31.9584	16.9441	0.86226	0.0:1.0:0.0:0.0	.	252;266	F5H1S0;O75326	.;SEM7A_HUMAN	Y	266;252;101	ENSP00000261918:C266Y;ENSP00000438966:C252Y;ENSP00000441493:C101Y	ENSP00000261918:C266Y	C	-	2	0	SEMA7A	72495973	1.000000	0.71417	1.000000	0.80357	0.188000	0.23474	4.368000	0.59505	2.525000	0.85131	0.655000	0.94253	TGC	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000272904.3		-	ENST00000261918.4	Missense_Mutation	SNP	15 : 74708920 - 74708920 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	248	41
TACC1	6867	broad.mit.edu	37	8	38678031	38678031	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38678031C>T	ENST00000317827.4	+	3	1648	c.1269C>T	c.(1267-1269)gaC>gaT	p.D423D	TACC1_ENST00000443286.2_Silent_p.D439D|TACC1_ENST00000519416.1_Silent_p.D228D|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000379931.3_Silent_p.D423D|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000520973.1_Silent_p.D228D|TACC1_ENST00000518415.1_Silent_p.D378D|TACC1_ENST00000520615.1_Silent_p.D228D|TACC1_ENST00000520340.1_Silent_p.D387D	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	423	Interaction with YEATS4.|SPAZ 2.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			ATAACTTTGACGAATCCATGG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,	0,4406		0,0,2203	158	171	166		,684,1269	-6.1	0.3	8		166	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous,coding-synonymous	TACC1	NM_001122824.1,NM_001146216.2,NM_006283.2	,,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,,	,228/611,423/806	38678031	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526	6867	6867			11522	protein-coding gene	gene with protein product		605301			NA		Standard	NM_006283	NM_006283	NA	Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.1269C>T	8.37:g.38678031C>T		NA	B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	37	CCDS6109.1	.	.	.	.	.	.	.	.	.	.	C	7.181	0.589634	0.13812	0.0	1.16E-4	ENSG00000147526	ENST00000521866;ENST00000518809	.	.	.	5.69	-6.11	0.02131	.	.	.	.	.	T	0.52933	0.1765	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55431	-0.8142	4	.	.	.	-10.6288	10.8991	0.47040	0.0:0.233:0.0937:0.6733	.	.	.	.	M	198;61	.	.	T	+	2	0	TACC1	38797188	0.101000	0.21875	0.274000	0.24659	0.684000	0.39900	-0.691000	0.05133	-1.564000	0.01678	-0.768000	0.03414	ACG	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376768.1		+	ENST00000317827.4	Silent	SNP	8 : 38678031 - 38678031 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1015	192
CDH10	1008	broad.mit.edu	37	5	24488103	24488103	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:24488103G>A	ENST00000264463.4	-	12	2543	c.2036C>T	c.(2035-2037)gCa>gTa	p.A679V	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	679					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTCAATGGCTGCAGGATTCCT	0.483		NA								HNSCC(23;0.051)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	64	63			NA	NA	5		NA											NA				24488103		2203	4300	6503	SO:0001583	missense			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731	1008	1008		Cadherins / Major cadherins	1749	protein-coding gene	gene with protein product		604555			NA	2059658	Standard	NM_006727	NM_006727	NA	Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2036C>T	5.37:g.24488103G>A	ENSP00000264463:p.Ala679Val	NA	Q9ULB3	37	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713235	0.48517	.	.	ENSG00000040731	ENST00000264463	T	0.76186	-1.0	5.46	5.46	0.80206	Cadherin, cytoplasmic domain (1);	0.100384	0.64402	D	0.000002	T	0.57917	0.2086	N	0.04260	-0.245	0.46564	D	0.999106	P	0.34815	0.47	B	0.39027	0.288	T	0.64364	-0.6425	10	0.51188	T	0.08	.	13.9707	0.64237	0.0:0.1515:0.8485:0.0	.	679	Q9Y6N8	CAD10_HUMAN	V	679	ENSP00000264463:A679V	ENSP00000264463:A679V	A	-	2	0	CDH10	24523860	1.000000	0.71417	0.855000	0.33649	0.953000	0.61014	5.855000	0.69510	2.580000	0.87095	0.655000	0.94253	GCA	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207345.2		-	ENST00000264463.4	Missense_Mutation	SNP	5 : 24488103 - 24488103 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	454	65
BCL11B	64919	broad.mit.edu	37	14	99640634	99640634	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99640634C>T	ENST00000345514.2	-	3	2592	c.2326G>A	c.(2326-2328)Ggg>Agg	p.G776R	BCL11B_ENST00000357195.3_Missense_Mutation_p.G847R|BCL11B_ENST00000443726.2_Missense_Mutation_p.G653R	NM_001282238.1|NM_022898.1	NP_001269167.1|NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	847						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CCGATCTGCCCGTGCGTCTTC	0.627		NA	T	TLX3	T-ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	0													91	72	78			NA	NA	14		NA											NA				99640634		2203	4300	6503	SO:0001583	missense			AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152	64919	64919		Zinc fingers, C2H2-type	13222	protein-coding gene	gene with protein product		606558		ZNF856B	NA	11719382, 16950772	Standard	NM_138576	NM_138576	NA	Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000345514.2:c.2326G>A	14.37:g.99640634C>T	ENSP00000280435:p.Gly776Arg	NA	Q9H162	37	CCDS9949.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325480	0.81580	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.07327	3.2;3.2;3.2	4.7	4.7	0.59300	.	0.295993	0.27567	N	0.018789	T	0.16471	0.0396	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.21655	-1.0239	10	0.87932	D	0	-14.1891	17.9731	0.89119	0.0:1.0:0.0:0.0	.	776;847	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	R	847;776;653	ENSP00000349723:G847R;ENSP00000280435:G776R;ENSP00000387419:G653R	ENSP00000280435:G776R	G	-	1	0	BCL11B	98710387	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.420000	0.80191	2.331000	0.79229	0.462000	0.41574	GGG	BCL11B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000072333.2		-	ENST00000345514.2	Missense_Mutation	SNP	14 : 99640634 - 99640634 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	259	11
LPL	4023	broad.mit.edu	37	8	19816893	19816893	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19816893T>C	ENST00000311322.8	+	7	1609		c.e7+2			NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	NA					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	ATTCACTCTGTGAGTAGCACA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	63	65			NA	NA	8		NA											NA				19816893		2203	4300	6503	SO:0001630	splice_region_variant				CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	4023	4023	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD	NA		Standard		NM_000237	NA	Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.1139+2T>C	8.37:g.19816893T>C		NA	B2R5T9|Q16282|Q16283|Q96FC4	37	CCDS6012.1	.	.	.	.	.	.	.	.	.	.	T	18.66	3.672395	0.67928	.	.	ENSG00000175445	ENST00000311322;ENST00000535763	.	.	.	5.93	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5139	0.50509	0.0:0.0:0.1504:0.8496	.	.	.	.	.	-1	.	.	.	+	.	.	LPL	19861173	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	7.580000	0.82523	1.048000	0.40298	0.523000	0.50628	.	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089113.3	Intron	+	ENST00000311322.8	Splice_Site	SNP	8 : 19816893 - 19816893 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	215	44
PFKFB3	5209	broad.mit.edu	37	10	6274895	6274895	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:6274895G>T	ENST00000379775.4	+	15	1883	c.1553G>T	c.(1552-1554)aGg>aTg	p.R518M	PFKFB3_ENST00000379789.4_Missense_Mutation_p.R498M|PFKFB3_ENST00000540253.1_Missense_Mutation_p.R532M|PFKFB3_ENST00000360521.2_3'UTR|PFKFB3_ENST00000379785.1_3'UTR|PFKFB3_ENST00000536985.1_3'UTR	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	518	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						GACTCCTCCAGGAAACACTGA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	154	154			NA	NA	10		NA											NA				6274895		2203	4300	6503	SO:0001583	missense				CCDS7078.1, CCDS44353.1, CCDS60479.1	10p15.1	2008-05-14			ENSG00000170525	ENSG00000170525	5209	5209			8874	protein-coding gene	gene with protein product		605319			NA	9146922, 10072580	Standard		NM_004566	NA	Approved		uc001ije.3	Q16875	OTTHUMG00000017621	ENST00000379775.4:c.1553G>T	10.37:g.6274895G>T	ENSP00000369100:p.Arg518Met	NA	O43622|O75902|Q5VX19	37	CCDS7078.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.032|6.032	0.374222|0.374222	0.11409|0.11409	.|.	.|.	ENSG00000170525|ENSG00000170525	ENST00000450232|ENST00000379789;ENST00000379784;ENST00000540253;ENST00000379775;ENST00000441697	.|.	.|.	.|.	4.95|4.95	3.07|3.07	0.35406|0.35406	.|.	.|.	.|.	.|.	.|.	T|T	0.19248|0.19248	0.0462|0.0462	N|N	0.08118|0.08118	0|0	0.18873|0.18873	N|N	0.999984|0.999984	.|B;B;B	.|0.28512	.|0.214;0.07;0.025	.|B;B;B	.|0.28784	.|0.094;0.058;0.058	T|T	0.19289|0.19289	-1.0310|-1.0310	5|8	.|0.72032	.|D	.|0.01	.|.	6.9535|6.9535	0.24558|0.24558	0.2159:0.0:0.7841:0.0|0.2159:0.0:0.7841:0.0	.|.	.|532;518;498	.|B7Z955;Q16875;Q5VX15	.|.;F263_HUMAN;.	H|M	140|498;186;532;518;29	.|.	.|ENSP00000369100:R518M	Q|R	+|+	3|2	2|0	PFKFB3|PFKFB3	6314901|6314901	0.900000|0.900000	0.30661|0.30661	0.009000|0.009000	0.14445|0.14445	0.074000|0.074000	0.17049|0.17049	1.467000|1.467000	0.35321|0.35321	0.492000|0.492000	0.27815|0.27815	0.561000|0.561000	0.74099|0.74099	CAG|AGG	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046647.1		+	ENST00000379775.4	Missense_Mutation	SNP	10 : 6274895 - 6274895 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	714	25
SCGB1D4	404552	broad.mit.edu	37	11	62064997	62064997	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62064997C>T	ENST00000358585.1	-	2	242	c.189G>A	c.(187-189)aaG>aaA	p.K63K		NM_206998.1	NP_996881.1	Q6XE38	SG1D4_HUMAN	secretoglobin, family 1D, member 4	63						extracellular region	binding			lung(1)|prostate(1)	2						CGGTGCAGTGCTTCACTTCCA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													219	232	227			NA	NA	11		NA											NA				62064997		2202	4299	6501	SO:0001819	synonymous_variant			AY236538	CCDS31583.1	11q12.3	2011-12-14			ENSG00000197745	ENSG00000197745	404552	404552		Secretoglobins	31748	protein-coding gene	gene with protein product		615062			NA	15034037, 15340161, 22155607	Standard	NM_206998	NM_206998	NA	Approved	IIS	uc001ntd.1	Q6XE38	OTTHUMG00000167510	ENST00000358585.1:c.189G>A	11.37:g.62064997C>T		NA	A1L4Q8	37	CCDS31583.1																																																																																			SCGB1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394862.1		-	ENST00000358585.1	Silent	SNP	11 : 62064997 - 62064997 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1618	312
IQGAP3	128239	broad.mit.edu	37	1	156504303	156504303	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156504303G>A	ENST00000361170.2	-	29	3740	c.3730C>T	c.(3730-3732)Ctc>Ttc	p.L1244F		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1244					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGAACTTGAGGTGTGTTTCC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	93	98			NA	NA	1		NA											NA				156504303		2203	4300	6503	SO:0001583	missense			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856	128239	128239			20669	protein-coding gene	gene with protein product					NA		Standard	NM_178229	NM_178229	NA	Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.3730C>T	1.37:g.156504303G>A	ENSP00000354451:p.Leu1244Phe	NA	Q5T3H8	37	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	G	8.928	0.962745	0.18583	.	.	ENSG00000183856	ENST00000361170	D	0.82167	-1.58	5.15	3.24	0.37175	Rho GTPase activation protein (1);Ras GTPase-activating protein (2);	1.032550	0.07629	N	0.928249	T	0.61160	0.2325	L	0.54323	1.7	0.28454	N	0.91623	B	0.24258	0.1	B	0.18561	0.022	T	0.54860	-0.8230	10	0.56958	D	0.05	-2.5708	2.0226	0.03512	0.1698:0.159:0.5066:0.1646	.	1244	Q86VI3	IQGA3_HUMAN	F	1244	ENSP00000354451:L1244F	ENSP00000354451:L1244F	L	-	1	0	IQGAP3	154770927	0.000000	0.05858	0.908000	0.35775	0.987000	0.75469	-0.196000	0.09532	0.715000	0.32103	0.563000	0.77884	CTC	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080657.1		-	ENST00000361170.2	Missense_Mutation	SNP	1 : 156504303 - 156504303 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	229	49
KCNJ4	3761	broad.mit.edu	37	22	38823648	38823648	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38823648C>T	ENST00000303592.3	-	2	748	c.490G>A	c.(490-492)Gac>Aac	p.D164N		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	164		Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesium (By similarity).			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)					ATGAAGGAGTCGATGACGCAG	0.627		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	22		NA											NA				38823648		2203	4300	6503	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.490G>A	22.37:g.38823648C>T	ENSP00000306497:p.Asp164Asn	NA	Q14D44	37	CCDS13971.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398230	0.62177	.	.	ENSG00000168135	ENST00000303592	D	0.93712	-3.27	4.94	4.94	0.65067	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.95522	0.8545	L	0.56199	1.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93955	0.7235	10	0.26408	T	0.33	.	18.5997	0.91244	0.0:1.0:0.0:0.0	.	164	P48050	IRK4_HUMAN	N	164	ENSP00000306497:D164N	ENSP00000306497:D164N	D	-	1	0	KCNJ4	37153594	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.071000	0.71229	2.472000	0.83506	0.555000	0.69702	GAC	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321447.1		-	ENST00000303592.3	Missense_Mutation	SNP	22 : 38823648 - 38823648 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	327	68
MAGIX	79917	broad.mit.edu	37	X	49022434	49022434	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49022434G>T	ENST00000376338.3	+	4	603	c.524G>T	c.(523-525)aGc>aTc	p.S175I	MAGIX_ENST00000376339.1_Missense_Mutation_p.S170I|MAGIX_ENST00000412696.2_Missense_Mutation_p.S234I|MAGIX_ENST00000498742.1_3'UTR|MAGIX_ENST00000425661.2_Missense_Mutation_p.S158I			Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	234	PDZ.										NA						CCAGATCGCAGCCCAGATCCT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	51	49			NA	NA	X		NA											NA				49022434		2138	4216	6354	SO:0001583	missense			AK025340	CCDS48106.1, CCDS48107.1, CCDS75976.1	Xp11.23	2014-05-06			ENSG00000017621	ENSG00000269313	79917	79917			30006	protein-coding gene	gene with protein product					NA		Standard	NM_024859	XM_005278065	NA	Approved	PDZX, JM10, FLJ21687	uc010nin.1	Q9H6Y5	OTTHUMG00000188218	ENST00000376338.3:c.524G>T	X.37:g.49022434G>T	ENSP00000365516:p.Ser175Ile	NA	A6XND4|A8MSX9|B7WP26|Q14C81	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	10.73|10.73|10.73	1.433669|1.433669|1.433669	0.25813|0.25813|0.25813	.|.|.	.|.|.	ENSG00000017621|ENSG00000017621|ENSG00000017621	ENST00000415364|ENST00000458388|ENST00000376339;ENST00000425661;ENST00000412696;ENST00000376338;ENST00000425285;ENST00000454342	.|.|T;T;T;T;T;T	.|.|0.34275	.|.|1.77;2.11;1.76;1.63;1.47;1.37	3.86|3.86|3.86	1.96|1.96|1.96	0.26148|0.26148|0.26148	.|.|.	.|.|0.787278	.|.|0.10759	.|.|N	.|.|0.637462	T|T|T	0.18800|0.18800|0.18800	0.0451|0.0451|0.0451	N|N|N	0.12746|0.12746|0.12746	0.255|0.255|0.255	0.26823|0.26823|0.26823	N|N|N	0.968756|0.968756|0.968756	.|.|B;B;B;B;B	.|.|0.33022	.|.|0.394;0.132;0.208;0.208;0.15	.|.|B;B;B;B;B	.|.|0.30782	.|.|0.12;0.021;0.038;0.047;0.027	T|T|T	0.21280|0.21280|0.21280	-1.0250|-1.0250|-1.0250	5|5|10	.|.|0.21014	.|.|T	.|.|0.42	-0.3008|-0.3008|-0.3008	8.5271|8.5271|8.5271	0.33311|0.33311|0.33311	0.0:0.0:0.5866:0.4134|0.0:0.0:0.5866:0.4134|0.0:0.0:0.5866:0.4134	.|.|.	.|.|158;234;170;175;101	.|.|F8WCY7;Q9H6Y5;Q9H6Y5-3;Q9H6Y5-2;C9J123	.|.|.;MAGIX_HUMAN;.;.;.	S|H|I	198|158|170;158;234;175;175;101	.|.|ENSP00000365517:S170I;ENSP00000403515:S158I;ENSP00000387928:S234I;ENSP00000365516:S175I;ENSP00000411713:S175I;ENSP00000400147:S101I	.|.|ENSP00000365516:S175I	A|Q|S	+|+|+	1|3|2	0|2|0	MAGIX|MAGIX|MAGIX	48909378|48909378|48909378	0.431000|0.431000|0.431000	0.25546|0.25546|0.25546	0.645000|0.645000|0.645000	0.29479|0.29479|0.29479	0.039000|0.039000|0.039000	0.13416|0.13416|0.13416	1.343000|1.343000|1.343000	0.33930|0.33930|0.33930	0.206000|0.206000|0.206000	0.20587|0.20587|0.20587	0.538000|0.538000|0.538000	0.68166|0.68166|0.68166	GCC|CAG|AGC	MAGIX-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000083435.1		+	ENST00000376338.3	Missense_Mutation	SNP	X : 49022434 - 49022434 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	269	69
ODF2	4957	broad.mit.edu	37	9	131254790	131254790	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131254790G>A	ENST00000434106.3	+	15	1985	c.1622G>A	c.(1621-1623)gGg>gAg	p.G541E	ODF2_ENST00000546203.1_Missense_Mutation_p.G522E|ODF2_ENST00000393527.3_Missense_Mutation_p.G517E|ODF2_ENST00000393533.2_Missense_Mutation_p.G541E|ODF2_ENST00000351030.3_Missense_Mutation_p.G536E|ODF2_ENST00000372814.3_Missense_Mutation_p.G585E|ODF2_ENST00000372807.5_Missense_Mutation_p.G536E|ODF2_ENST00000444119.2_Missense_Mutation_p.G517E|ODF2_ENST00000448249.3_Missense_Mutation_p.G460E|ODF2_ENST00000372791.3_Missense_Mutation_p.G522E|ODF2_ENST00000604420.1_Missense_Mutation_p.G541E	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	NA					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AACTATGAGGGGATGATTGAC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	81	81			NA	NA	9		NA											NA				131254790		2203	4300	6503	SO:0001583	missense			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811	4957	4957			8114	protein-coding gene	gene with protein product	cancer/testis antigen 134	602015	outer dense fibre of sperm tails 2		NA	9045620, 10072582	Standard		NM_153435	NA	Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.1622G>A	9.37:g.131254790G>A	ENSP00000403453:p.Gly541Glu	NA	B4DRK4|B4DZ02|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	37	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274820	0.59649	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791	T;T;T;T;T;T;T;T	0.80653	1.07;-1.4;1.07;1.07;1.98;-1.4;1.07;1.07	6.07	6.07	0.98685	.	0.088091	0.85682	D	0.000000	T	0.69124	0.3076	L	0.34521	1.04	0.80722	D	1	B;B;B;B;B;B;B;B	0.28783	0.222;0.016;0.222;0.028;0.139;0.222;0.035;0.028	B;B;B;B;B;B;B;B	0.20955	0.031;0.015;0.031;0.015;0.031;0.031;0.032;0.015	T	0.64037	-0.6501	10	0.18710	T	0.47	-33.0468	13.0706	0.59059	0.0756:0.0:0.9244:0.0	.	522;536;460;475;541;522;541;517	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;Q5BJF6-2;B4DX73;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;.;ODFP2_HUMAN;.	E	541;585;536;541;517;460;522;522	ENSP00000377166:G541E;ENSP00000361901:G585E;ENSP00000342581:G536E;ENSP00000361882:G541E;ENSP00000307781:G517E;ENSP00000396687:G460E;ENSP00000437579:G522E;ENSP00000361877:G522E	ENSP00000307781:G517E	G	+	2	0	ODF2	130294611	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.112000	0.50368	2.884000	0.98904	0.655000	0.94253	GGG	ODF2-011	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054449.3		+	ENST00000434106.3	Missense_Mutation	SNP	9 : 131254790 - 131254790 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	247	41
SRGAP3	9901	broad.mit.edu	37	3	9032472	9032472	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9032472G>A	ENST00000383836.3	-	21	3037	c.2610C>T	c.(2608-2610)ggC>ggT	p.G870G	SRGAP3_ENST00000360413.3_Silent_p.G846G	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	870					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TGTGTGTGTCGCCCCCGCTTC	0.701		NA	T	RAF1	pilocytic astrocytoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	0													10	13	12			NA	NA	3		NA											NA				9032472		2183	4286	6469	SO:0001819	synonymous_variant			AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220	9901	9901		Rho GTPase activating proteins	19744	protein-coding gene	gene with protein product		606525	SLIT-ROBO Rho GTPase activating protein 2	SRGAP2	NA	12195014	Standard		NM_014850	NA	Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2610C>T	3.37:g.9032472G>A		NA	Q8IX13|Q8IZV8	37	CCDS2572.1																																																																																			SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207137.3		-	ENST00000383836.3	Silent	SNP	3 : 9032472 - 9032472 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	117	16
ANKRD11	29123	broad.mit.edu	37	16	89345738	89345738	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89345738C>T	ENST00000301030.4	-	9	7672	c.7212G>A	c.(7210-7212)acG>acA	p.T2404T	ANKRD11_ENST00000378330.2_Silent_p.T2404T	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2404						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCGTCTGCTGCGTGGACGTGT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	18	18			NA	NA	16		NA											NA				89345738		2195	4299	6494	SO:0001819	synonymous_variant			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522	29123	29123		Ankyrin repeat domain containing	21316	protein-coding gene	gene with protein product		611192			NA	11483580	Standard	NM_013275	NM_001256182	NA	Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.7212G>A	16.37:g.89345738C>T		NA	Q6NTG1|Q6QMF8	37	CCDS32513.1																																																																																			ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000430462.3		-	ENST00000301030.4	Silent	SNP	16 : 89345738 - 89345738 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	205	22
SLCO2A1	6578	broad.mit.edu	37	3	133674026	133674026	+	Missense_Mutation	SNP	G	G	A	rs141264634	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133674026G>A	ENST00000493729.1	-	4	509				SLCO2A1_ENST00000310926.4_Missense_Mutation_p.R137C			Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	NA					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GCCTGCAAGCGGCTGTTGTTC	0.632		NA											G	1	5e-04	NA	NA	2184	NA	0.9999	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.9135	EXOME	NA	NA	4e-04	SNP								NA				0													42	42	42			NA	NA	3		NA											NA				133674026		2203	4300	6503	SO:0001627	intron_variant				CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640	6578	6578		Solute carriers	10955	protein-coding gene	gene with protein product		601460	solute carrier family 21 (prostaglandin transporter), member 2, matrin F/G 1	SLC21A2, MATR1	NA	8787677, 9618293	Standard	NM_005630	NM_005630	NA	Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000493729.1:c.398-1421C>T	3.37:g.133674026G>A		NA	Q86V98|Q8IUN2	37		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.88	1.770573	0.31320	.	.	ENSG00000174640	ENST00000310926	T	0.39997	1.05	5.5	-1.39	0.08997	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.303740	0.01346	N	0.011720	T	0.24122	0.0584	N	0.02539	-0.55	0.24042	N	0.996072	P	0.52170	0.951	P	0.47645	0.553	T	0.07751	-1.0756	10	0.56958	D	0.05	.	4.404	0.11400	0.0672:0.2301:0.3555:0.3473	.	137	Q92959	SO2A1_HUMAN	C	137	ENSP00000311291:R137C	ENSP00000311291:R137C	R	-	1	0	SLCO2A1	135156716	0.022000	0.18835	0.035000	0.18076	0.028000	0.11728	0.087000	0.14958	-0.253000	0.09514	-0.502000	0.04539	CGC	SLCO2A1-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000357134.1		-	ENST00000493729.1	Intron	SNP	3 : 133674026 - 133674026 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	174	42
NOL4	8715	broad.mit.edu	37	18	31523032	31523032	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31523032C>T	ENST00000535384.1	-	5	922	c.684G>A	c.(682-684)caG>caA	p.Q228Q	NOL4_ENST00000538587.1_Silent_p.Q439Q|NOL4_ENST00000261592.5_Silent_p.Q513Q|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000535475.1_Silent_p.Q294Q|NOL4_ENST00000589544.1_Intron	NM_001198549.1	NP_001185478.1	O94818	NOL4_HUMAN	nucleolar protein 4	513						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCAGTACCTGCTGTCTCTCCA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	93	97			NA	NA	18		NA											NA				31523032		2203	4299	6502	SO:0001819	synonymous_variant			AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746	8715	8715			7870	protein-coding gene	gene with protein product	cancer/testis antigen 125	603577			NA	9813152	Standard	NM_003787	NM_003787	NA	Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000535384.1:c.684G>A	18.37:g.31523032C>T		NA	Q6IBS2|Q9BWF1	37	CCDS56058.1																																																																																			NOL4-006	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442111.1		-	ENST00000535384.1	Silent	SNP	18 : 31523032 - 31523032 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	353	81
DDX60	55601	broad.mit.edu	37	4	169194446	169194446	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169194446T>G	ENST00000393743.3	-	18	2849	c.2558A>C	c.(2557-2559)gAt>gCt	p.D853A		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	853	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GTTTAAGGCATCATGACGATA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	79	81			NA	NA	4		NA											NA				169194446		2203	4300	6503	SO:0001583	missense			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628	55601	55601			25942	protein-coding gene	gene with protein product		613974			NA	12477932	Standard	NM_017631	NM_017631	NA	Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.2558A>C	4.37:g.169194446T>G	ENSP00000377344:p.Asp853Ala	NA	Q6PK35|Q9NVE3	37	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	T	13.92	2.381296	0.42207	.	.	ENSG00000137628	ENST00000393743	T	0.14266	2.52	5.53	5.53	0.82687	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.379178	0.24808	N	0.035430	T	0.25791	0.0628	L	0.40543	1.245	0.43308	D	0.995313	D	0.60575	0.988	P	0.60541	0.876	T	0.00597	-1.1652	10	0.36615	T	0.2	.	15.6094	0.76704	0.0:0.0:0.0:1.0	.	853	Q8IY21	DDX60_HUMAN	A	853	ENSP00000377344:D853A	ENSP00000377344:D853A	D	-	2	0	DDX60	169431021	0.989000	0.36119	0.096000	0.21009	0.004000	0.04260	5.030000	0.64128	2.225000	0.72522	0.460000	0.39030	GAT	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364622.1		-	ENST00000393743.3	Missense_Mutation	SNP	4 : 169194446 - 169194446 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	71
KBTBD3	143879	broad.mit.edu	37	11	105929591	105929591	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:105929591C>A	ENST00000531482.2	-	1	247		c.e1+1		KBTBD3_ENST00000526793.1_Splice_Site|KBTBD3_ENST00000534815.1_Intron|KBTBD3_ENST00000531837.1_Splice_Site			Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	NA										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		AGGTAAAGTACCTGAAAAAGT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	74	75			NA	NA	11		NA											NA				105929591		2201	4298	6499	SO:0001630	splice_region_variant			AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359	143879	143879		BTB/POZ domain containing	22934	protein-coding gene	gene with protein product			BTB and kelch domain containing 3	BKLHD3	NA		Standard	NM_152433	NM_198439	NA	Approved		uc001pjb.3	Q8NAB2		ENST00000531482.2:c.233+1G>T	11.37:g.105929591C>A		NA	Q6N066|Q86X38|Q96NK5	37		.	.	.	.	.	.	.	.	.	.	C	20.4	3.985867	0.74589	.	.	ENSG00000182359	ENST00000526793;ENST00000531837	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8344	0.96650	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KBTBD3	105434801	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.458000	0.80787	2.692000	0.91855	0.655000	0.94253	.	KBTBD3-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000388708.2	Intron	-	ENST00000531482.2	Splice_Site	SNP	11 : 105929591 - 105929591 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	200	33
PKD1	5310	broad.mit.edu	37	16	2147772	2147772	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2147772C>T	ENST00000262304.4	-	32	10385	c.10177G>A	c.(10177-10179)Gtt>Att	p.V3393I	PKD1_ENST00000423118.1_Missense_Mutation_p.V3392I	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3393					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ATCTGTCCAACAAAGGCCTGC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	101	97			NA	NA	16		NA											NA				2147772		2198	4300	6498	SO:0001583	missense			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710	5310	5310		Voltage-gated ion channels / Transient receptor potential cation channels	9008	protein-coding gene	gene with protein product	polycystin 1, transient receptor potential cation channel, subfamily P, member 1	601313			NA		Standard		NM_001009944	NA	Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.10177G>A	16.37:g.2147772C>T	ENSP00000262304:p.Val3393Ile	NA	Q15140|Q15141	37	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	C	7.242	0.601532	0.13939	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.34275	1.37;1.4	4.44	-1.98	0.07480	.	0.805808	0.11217	N	0.587105	T	0.13543	0.0328	N	0.08118	0	0.09310	N	1	P;B	0.35226	0.491;0.128	B;B	0.27076	0.076;0.05	T	0.16541	-1.0399	10	0.34782	T	0.22	.	6.1194	0.20144	0.5948:0.2285:0.0:0.1767	.	3392;3393	P98161-3;P98161	.;PKD1_HUMAN	I	3393;3392;2727	ENSP00000262304:V3393I;ENSP00000399501:V3392I	ENSP00000262304:V3393I	V	-	1	0	PKD1	2087773	0.134000	0.22483	0.047000	0.18901	0.004000	0.04260	0.088000	0.14979	-0.109000	0.12044	-0.300000	0.09419	GTT	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341688.1		-	ENST00000262304.4	Missense_Mutation	SNP	16 : 2147772 - 2147772 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1084	191
GJA3	2700	broad.mit.edu	37	13	20717142	20717142	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20717142C>T	ENST00000241125.3	-	2	462	c.286G>A	c.(286-288)Gtg>Atg	p.V96M		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	96					cell-cell signaling|visual perception	connexon complex|integral to membrane				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		ATGTGCAGCACGTGGCCCAGG	0.607		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	13		NA											NA				20717142		2203	4300	6503	SO:0001583	missense			AF075290	CCDS9289.1	13q12.11	2008-02-05	2007-01-16		ENSG00000121743	ENSG00000121743	2700	2700		Ion channels / Gap junction proteins (connexins)	4277	protein-coding gene	gene with protein product	connexin 46	121015	gap junction protein, alpha 3, 46kD (connexin 46), gap junction protein, alpha 3, 46kDa (connexin 46)	CZP3	NA	10205266, 7342922	Standard	NM_021954	NM_021954	NA	Approved	CX46	uc001umx.1	Q9Y6H8	OTTHUMG00000016510	ENST00000241125.3:c.286G>A	13.37:g.20717142C>T	ENSP00000241125:p.Val96Met	NA	Q0VAB7|Q9H537	37	CCDS9289.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848041	0.91277	.	.	ENSG00000121743	ENST00000241125	D	0.99239	-5.61	5.36	5.36	0.76844	Connexin, N-terminal (1);	0.000000	0.64402	D	0.000001	D	0.99115	0.9695	L	0.59912	1.85	0.80722	D	1	D	0.71674	0.998	P	0.61070	0.883	D	0.99879	1.1110	10	0.72032	D	0.01	.	19.094	0.93242	0.0:1.0:0.0:0.0	.	96	Q9Y6H8	CXA3_HUMAN	M	96	ENSP00000241125:V96M	ENSP00000241125:V96M	V	-	1	0	GJA3	19615142	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.837000	0.62796	2.517000	0.84864	0.561000	0.74099	GTG	GJA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044059.3		-	ENST00000241125.3	Missense_Mutation	SNP	13 : 20717142 - 20717142 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	92	11
NABP2	79035	broad.mit.edu	37	12	56620171	56620171	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56620171A>G	ENST00000380198.2	+	5	902	c.404A>G	c.(403-405)cAg>cGg	p.Q135R	NABP2_ENST00000267023.4_Missense_Mutation_p.Q135R|NABP2_ENST00000341463.5_Missense_Mutation_p.Q135R					nucleic acid binding protein 2	NA											NA						TCAGCTTCCCAGCCTACCACT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													197	157	171			NA	NA	12		NA											NA				56620171		2203	4300	6503	SO:0001583	missense			BC006171	CCDS8911.1	12q13.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000139579	ENSG00000139579	79035	79035			28412	protein-coding gene	gene with protein product	single strand DNA-binding protein 1, sensor of single-strand DNA complex subunit B1	612104	oligonucleotide/oligosaccharide-binding fold containing 2B	OBFC2B	NA		Standard	NM_024068	NM_024068	NA	Approved	MGC2731, SSB1, hSSB1, SOSS-B1	uc001ski.3	Q9BQ15	OTTHUMG00000152527	ENST00000380198.2:c.404A>G	12.37:g.56620171A>G	ENSP00000369545:p.Gln135Arg	NA		37	CCDS8911.1	.	.	.	.	.	.	.	.	.	.	A	7.689	0.690625	0.15039	.	.	ENSG00000139579	ENST00000447747;ENST00000399713;ENST00000267023;ENST00000380198;ENST00000341463	T;T;T	0.23348	1.91;1.91;1.91	4.29	4.29	0.51040	.	0.000000	0.47455	D	0.000231	T	0.20292	0.0488	L	0.44542	1.39	0.28850	N	0.896116	B;B;B	0.19583	0.035;0.037;0.007	B;B;B	0.17979	0.02;0.009;0.008	T	0.10520	-1.0626	10	0.22109	T	0.4	-19.7457	10.1776	0.42948	1.0:0.0:0.0:0.0	.	135;135;135	C9JT95;C9JMP5;Q9BQ15	.;.;SOSB1_HUMAN	R	135	ENSP00000267023:Q135R;ENSP00000369545:Q135R;ENSP00000368862:Q135R	ENSP00000267023:Q135R	Q	+	2	0	OBFC2B	54906438	0.823000	0.29233	0.907000	0.35723	0.167000	0.22549	1.810000	0.38932	1.736000	0.51660	0.370000	0.22315	CAG	NABP2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326610.1		+	ENST00000380198.2	Missense_Mutation	SNP	12 : 56620171 - 56620171 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	555	95
EDN3	1908	broad.mit.edu	37	20	57896193	57896193	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57896193G>A	ENST00000311585.7	+	3	857	c.487G>A	c.(487-489)Ggg>Agg	p.G163R	EDN3_ENST00000371028.2_Missense_Mutation_p.G163R|EDN3_ENST00000371025.3_Missense_Mutation_p.G163R|EDN3_ENST00000395654.3_Missense_Mutation_p.G163R|EDN3_ENST00000337938.2_Missense_Mutation_p.G163R	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN	endothelin 3	163	Endothelin-like.				cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					CGCTTGTGTGGGGAGATATGA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	113	116			NA	NA	20		NA											NA				57896193		2203	4300	6503	SO:0001583	missense			X52001	CCDS13477.1, CCDS13478.1, CCDS13479.1	20q13.2-q13.3	2013-02-26			ENSG00000124205	ENSG00000124205	1908	1908		Endogenous ligands	3178	protein-coding gene	gene with protein product		131242			NA		Standard	NM_000114	NM_000114	NA	Approved	ET3	uc002yaq.3	P14138	OTTHUMG00000032867	ENST00000311585.7:c.487G>A	20.37:g.57896193G>A	ENSP00000311854:p.Gly163Arg	NA	E1P5I5|Q03229	37	CCDS13479.1	.	.	.	.	.	.	.	.	.	.	G	9.089	1.001224	0.19121	.	.	ENSG00000124205	ENST00000337938;ENST00000311585;ENST00000371028;ENST00000371025;ENST00000395654	D;D;D;D;D	0.86865	-2.05;-2.05;-2.05;-2.18;-2.18	4.75	2.71	0.32032	Endothelin-like toxin, conserved site (1);Endothelin-like toxin (1);	0.869368	0.10054	N	0.721777	T	0.80412	0.4618	L	0.39898	1.24	0.09310	N	1	B;B;B;P	0.37612	0.2;0.126;0.034;0.602	B;B;B;B	0.34489	0.049;0.035;0.022;0.184	T	0.62282	-0.6887	10	0.19147	T	0.46	-11.8105	11.4336	0.50056	0.0:0.3801:0.6199:0.0	.	163;163;163;163	P14138-2;Q7Z6D2;P14138;Q4FAT2	.;.;EDN3_HUMAN;.	R	163	ENSP00000337128:G163R;ENSP00000311854:G163R;ENSP00000360067:G163R;ENSP00000360064:G163R;ENSP00000379015:G163R	ENSP00000311854:G163R	G	+	1	0	EDN3	57329588	0.047000	0.20315	0.001000	0.08648	0.040000	0.13550	1.507000	0.35758	0.488000	0.27723	0.555000	0.69702	GGG	EDN3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079920.2		+	ENST00000311585.7	Missense_Mutation	SNP	20 : 57896193 - 57896193 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	571	19
MAGEA8	4107	broad.mit.edu	37	X	149013843	149013843	+	Missense_Mutation	SNP	G	G	A	rs45577435		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149013843G>A	ENST00000542674.1	+	3	1318	c.797G>A	c.(796-798)gGc>gAc	p.G266D	MAGEA8_ENST00000286482.1_Missense_Mutation_p.G266D|MAGEA8_ENST00000535454.1_Missense_Mutation_p.G266D	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	266	MAGE.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGCGCCCGGCAGTGATCCT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	106	108			NA	NA	X		NA											NA				149013843		2203	4298	6501	SO:0001583	missense				CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009	4107	4107			6806	protein-coding gene	gene with protein product	MAGE-8 antigen, cancer/testis antigen family 1, member 8	300341		MAGE8	NA	8575766	Standard	NM_005364	NM_005364	NA	Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.797G>A	X.37:g.149013843G>A	ENSP00000443776:p.Gly266Asp	NA	Q9BUN9	37	CCDS14692.1	.	.	.	.	.	.	.	.	.	.	.	5.488	0.274967	0.10403	.	.	ENSG00000156009	ENST00000535454;ENST00000542674;ENST00000286482	T;T;T	0.04551	3.6;3.6;3.6	1.0	-0.00804	0.14006	.	1.973700	0.02584	N	0.099221	T	0.05090	0.0136	L	0.34521	1.04	0.09310	N	1	B	0.19935	0.04	B	0.28709	0.093	T	0.41787	-0.9489	10	0.27082	T	0.32	.	3.2982	0.06974	0.3338:0.0:0.6662:0.0	rs45577435	266	P43361	MAGA8_HUMAN	D	266	ENSP00000438293:G266D;ENSP00000443776:G266D;ENSP00000286482:G266D	ENSP00000286482:G266D	G	+	2	0	MAGEA8	148774501	0.000000	0.05858	0.116000	0.21606	0.417000	0.31264	-0.366000	0.07563	-0.074000	0.12820	0.190000	0.17370	GGC	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058728.1		+	ENST00000542674.1	Missense_Mutation	SNP	X : 149013843 - 149013843 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	723	193
PRSS23	11098	broad.mit.edu	37	11	86519307	86519307	+	Missense_Mutation	SNP	G	G	A	rs149020963		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:86519307G>A	ENST00000280258.5	+	2	1047	c.622G>A	c.(622-624)Gac>Aac	p.D208N	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.D176N	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	208					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGGGGCCAACGACTCCACTTC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ASN/ASP	0,4402		0,0,2201	38	36	37		622	-10.7	0	11	dbSNP_134	37	1,8597	1.2+/-3.3	0,1,4298	no	missense	PRSS23	NM_007173.4	23	0,1,6499	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	208/384	86519307	1,12999	2201	4299	6500	SO:0001583	missense			AF015287	CCDS8278.1	11q14.2	2010-05-12			ENSG00000150687	ENSG00000150687	11098	11098		Serine peptidases / Serine peptidases	14370	protein-coding gene	gene with protein product					NA		Standard	NM_007173	XM_005273727	NA	Approved	SPUVE, SIG13	uc001pcb.3	O95084		ENST00000280258.5:c.622G>A	11.37:g.86519307G>A	ENSP00000280258:p.Asp208Asn	NA	B2RDJ1|Q6IBI0	37	CCDS8278.1	.	.	.	.	.	.	.	.	.	.	G	7.306	0.614015	0.14066	0.0	1.16E-4	ENSG00000150687	ENST00000280258;ENST00000441050	D;D	0.88664	-2.41;-2.41	6.06	-10.7	0.00240	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	1.727610	0.02331	N	0.073976	T	0.78259	0.4255	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.62215	-0.6901	9	.	.	.	-0.1783	8.0381	0.30504	0.6445:0.1543:0.1236:0.0776	.	176;208	B4E2J3;O95084	.;PRS23_HUMAN	N	208;176	ENSP00000280258:D208N;ENSP00000393015:D176N	.	D	+	1	0	PRSS23	86196955	0.000000	0.05858	0.000000	0.03702	0.633000	0.38033	-0.662000	0.05305	-2.173000	0.00773	-0.140000	0.14226	GAC	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393805.2		+	ENST00000280258.5	Missense_Mutation	SNP	11 : 86519307 - 86519307 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	209	41
TRIM52	84851	broad.mit.edu	37	5	180687720	180687720	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180687720G>A	ENST00000327767.4	-	1	399	c.95C>T	c.(94-96)tCc>tTc	p.S32F	CTC-338M12.4_ENST00000511331.1_RNA|TRIM52_ENST00000514805.1_5'UTR	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52	32						intracellular	zinc ion binding			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		ACAGCTGATGGACACGGGGTC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	56	60			NA	NA	5		NA											NA				180687720		2203	4300	6503	SO:0001583	missense				CCDS4467.1	5q35.3	2013-01-09	2011-01-25		ENSG00000183718	ENSG00000183718	84851	84851		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	19024	protein-coding gene	gene with protein product			tripartite motif-containing 52		NA		Standard	NM_032765	NM_032765	NA	Approved	RNF102	uc003mnp.3	Q96A61	OTTHUMG00000130964	ENST00000327767.4:c.95C>T	5.37:g.180687720G>A	ENSP00000332152:p.Ser32Phe	NA		37	CCDS4467.1	.	.	.	.	.	.	.	.	.	.	g	16.06	3.014596	0.54468	.	.	ENSG00000183718	ENST00000327767	D	0.95238	-3.65	3.72	3.72	0.42706	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	.	.	.	.	D	0.96670	0.8913	M	0.77486	2.375	0.47123	D	0.999328	D	0.89917	1.0	D	0.75484	0.986	D	0.96451	0.9334	8	.	.	.	.	13.7957	0.63168	0.0:0.0:1.0:0.0	.	32	Q96A61	TRI52_HUMAN	F	32	ENSP00000332152:S32F	.	S	-	2	0	TRIM52	180620326	0.093000	0.21703	0.112000	0.21494	0.279000	0.26890	1.476000	0.35420	2.041000	0.60428	0.511000	0.50034	TCC	TRIM52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253572.3		-	ENST00000327767.4	Missense_Mutation	SNP	5 : 180687720 - 180687720 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	293	53
ROBO3	64221	broad.mit.edu	37	11	124742334	124742334	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124742334A>C	ENST00000397801.1	+	8	1408	c.1216A>C	c.(1216-1218)Aga>Cga	p.R406R	ROBO3_ENST00000538940.1_Silent_p.R384R	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	406	Ig-like C2-type 4.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		AGTGTCTCCAAGAGGCCAACT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	75	75			NA	NA	11		NA											NA				124742334		2065	4214	6279	SO:0001819	synonymous_variant			AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134	64221	64221		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	13433	protein-coding gene	gene with protein product		608630	roundabout (axon guidance receptor, Drosophila) homolog 3, horizontal gaze palsy with progressive scoliosis	HGPPS	NA	15105459	Standard	XM_370663	NM_022370	NA	Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.1216A>C	11.37:g.124742334A>C		NA		37	CCDS44755.1																																																																																			ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387091.1		+	ENST00000397801.1	Silent	SNP	11 : 124742334 - 124742334 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	386	87
PGC	5225	broad.mit.edu	37	6	41712141	41712141	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41712141C>T	ENST00000373025.3	-	3	384	c.322G>A	c.(322-324)Gcc>Acc	p.A108T	PGC_ENST00000425343.2_Missense_Mutation_p.A108T	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	108					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity	p.A108T(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TCACTGCAGGCCTGGCTCTGG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											60	62	61			NA	NA	6		NA											NA				41712141		2203	4300	6503	SO:0001583	missense				CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	5225	5225	3.4.23.3		8890	protein-coding gene	gene with protein product		169740			NA		Standard		NM_002630	NA	Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.322G>A	6.37:g.41712141C>T	ENSP00000362116:p.Ala108Thr	NA	Q5T3D7|Q5T3D8	37	CCDS4859.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821681	0.50633	.	.	ENSG00000096088	ENST00000373025;ENST00000425343	T;T	0.60672	0.17;0.17	4.65	3.79	0.43588	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.063203	0.64402	N	0.000010	T	0.72391	0.3454	M	0.88377	2.95	0.44175	D	0.996986	D	0.89917	1.0	D	0.79784	0.993	T	0.79014	-0.1976	10	0.87932	D	0	.	12.4447	0.55645	0.0:0.9174:0.0:0.0826	.	108	P20142	PEPC_HUMAN	T	108	ENSP00000362116:A108T;ENSP00000405094:A108T	ENSP00000362116:A108T	A	-	1	0	PGC	41820119	1.000000	0.71417	0.999000	0.59377	0.011000	0.07611	4.216000	0.58540	1.203000	0.43233	-0.225000	0.12378	GCC	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040521.2		-	ENST00000373025.3	Missense_Mutation	SNP	6 : 41712141 - 41712141 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	602	86
CNKSR3	154043	broad.mit.edu	37	6	154743640	154743640	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:154743640C>A	ENST00000479339.1	-	9	1055	c.705G>T	c.(703-705)caG>caT	p.Q235H	CNKSR3_ENST00000607772.1_Splice_Site_p.Q315H|CNKSR3_ENST00000433165.2_Splice_Site_p.Q140H			Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	315	PDZ.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		TCCCAGATACCTGTACAAGAG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	136	133			NA	NA	6		NA											NA				154743640		2203	4300	6503	SO:0001630	splice_region_variant			AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721	154043	154043		Sterile alpha motif (SAM) domain containing	23034	protein-coding gene	gene with protein product			membrane associated guanylate kinase interacting protein-like 1	MAGI1	NA		Standard	NM_173515	NM_173515	NA	Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000479339.1:c.705+1G>T	6.37:g.154743640C>A		NA	Q5SGD5|Q96N65	37		.	.	.	.	.	.	.	.	.	.	C	17.21	3.330836	0.60853	.	.	ENSG00000153721	ENST00000367209;ENST00000367213;ENST00000433165;ENST00000479339;ENST00000424998;ENST00000454664	T;T;T;T	0.52983	1.22;0.64;0.64;0.76	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.59445	0.2194	L	0.54323	1.7	0.54753	D	0.999981	D	0.89917	1.0	D	0.83275	0.996	T	0.54016	-0.8356	9	.	.	.	.	19.7559	0.96291	0.0:1.0:0.0:0.0	.	315	Q6P9H4	CNKR3_HUMAN	H	90;315;140;235;77;140	ENSP00000356182:Q315H;ENSP00000414185:Q140H;ENSP00000418975:Q235H;ENSP00000406740:Q140H	.	Q	-	3	2	CNKSR3	154785332	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	7.416000	0.80143	2.656000	0.90262	0.655000	0.94253	CAG	CNKSR3-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000348631.2	Missense_Mutation	-	ENST00000479339.1	Splice_Site	SNP	6 : 154743640 - 154743640 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	706	148
GPRC5B	51704	broad.mit.edu	37	16	19883423	19883423	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19883423C>T	ENST00000300571.2	-	2	936	c.745G>A	c.(745-747)Gcc>Acc	p.A249T	GPRC5B_ENST00000569479.1_Missense_Mutation_p.A249T|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A275T|GPRC5B_ENST00000569847.1_Missense_Mutation_p.A249T|GPRC5B_ENST00000535671.1_Missense_Mutation_p.A249T	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	249										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GTCATCCAGGCCACCCAGATG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	106	105			NA	NA	16		NA											NA				19883423		2197	4300	6497	SO:0001583	missense			AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191	NA	51704		GPCR / Class C : Orphans	13308	protein-coding gene	gene with protein product		605948	G protein-coupled receptor, family C, group 1, member B, G protein-coupled receptor, family C, group 5, member B		NA	10493829, 10783259	Standard		XM_005255357	NA	Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.745G>A	16.37:g.19883423C>T	ENSP00000300571:p.Ala249Thr	NA	O75205|Q8NBZ8	37	CCDS10581.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371618	0.61624	.	.	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	D;D;D	0.89270	-2.49;-2.49;-2.49	5.44	2.43	0.29744	GPCR, family 3, C-terminal (2);	0.185119	0.47093	N	0.000251	D	0.85031	0.5604	L	0.59436	1.845	0.48135	D	0.999599	B;P	0.36683	0.125;0.565	B;B	0.37015	0.043;0.239	T	0.79279	-0.1869	9	.	.	.	.	10.1545	0.42814	0.0:0.7848:0.0:0.2152	.	275;249	B7Z831;Q9NZH0	.;GPC5B_HUMAN	T	249;249;98;275	ENSP00000300571:A249T;ENSP00000442858:A249T;ENSP00000441775:A275T	.	A	-	1	0	GPRC5B	19790924	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.802000	0.62539	0.414000	0.25790	0.655000	0.94253	GCC	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254285.1		-	ENST00000300571.2	Missense_Mutation	SNP	16 : 19883423 - 19883423 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	267	26
SDC4	6385	broad.mit.edu	37	20	43959167	43959167	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43959167G>T	ENST00000372733.3	-	4	323	c.284C>A	c.(283-285)tCt>tAt	p.S95Y	SDC4_ENST00000537976.1_Missense_Mutation_p.S23Y	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	95						extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				TTGGCTCCCAGACCCTGCCCT	0.532		NA	T	ROS1	NSCLC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		20	20q12	6385	syndecan 4		E	0													83	71	75			NA	NA	20		NA											NA				43959167		2203	4300	6503	SO:0001583	missense			X67016, D13292	CCDS13350.1	20q12	2010-03-25	2007-02-15		ENSG00000124145	ENSG00000124145	6385	6385		Proteoglycans / Cell Surface : Syndecans	10661	protein-coding gene	gene with protein product	syndecan proteoglycan 4	600017	syndecan 4 (amphiglycan, ryudocan)		NA	7916598, 1500433	Standard	NM_002999	NM_002999	NA	Approved	SYND4, amphiglycan, ryudocan	uc002xnu.3	P31431	OTTHUMG00000033083	ENST00000372733.3:c.284C>A	20.37:g.43959167G>T	ENSP00000361818:p.Ser95Tyr	NA	O00773|Q16833|Q53FN9	37	CCDS13350.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094382	0.36952	.	.	ENSG00000124145	ENST00000372733;ENST00000537976	T	0.31769	1.48	5.68	4.73	0.59995	.	0.571570	0.15256	N	0.272065	T	0.24431	0.0592	N	0.14661	0.345	0.09310	N	1	P	0.47545	0.897	P	0.48571	0.582	T	0.06127	-1.0844	10	0.62326	D	0.03	-1.355	7.81	0.29226	0.0825:0.0:0.7478:0.1697	.	95	P31431	SDC4_HUMAN	Y	95;23	ENSP00000361818:S95Y	ENSP00000361818:S95Y	S	-	2	0	SDC4	43392581	0.259000	0.24043	0.943000	0.38184	0.300000	0.27592	2.058000	0.41374	1.403000	0.46800	0.561000	0.74099	TCT	SDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080515.1		-	ENST00000372733.3	Missense_Mutation	SNP	20 : 43959167 - 43959167 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	242	42
HK1	3098	broad.mit.edu	37	10	71119777	71119777	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71119777C>T	ENST00000359426.6	+	3	455	c.351C>T	c.(349-351)aaC>aaT	p.N117N	HK1_ENST00000448642.2_Silent_p.N152N|HK1_ENST00000298649.3_Silent_p.N116N|HK1_ENST00000360289.2_Silent_p.N105N|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000404387.2_Silent_p.N121N	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	117	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CCCCAGAGAACATCGTGCACG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	100	102			NA	NA	10		NA											NA				71119777		2203	4300	6503	SO:0001819	synonymous_variant			M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	3098	3098	2.7.1.1		4922	protein-coding gene	gene with protein product		142600			NA		Standard	NM_000188	NM_033496	NA	Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.351C>T	10.37:g.71119777C>T		NA	O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	37	CCDS7292.1																																																																																			HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048429.2		+	ENST00000359426.6	Silent	SNP	10 : 71119777 - 71119777 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	441	64
C17orf80	55028	broad.mit.edu	37	17	71232555	71232555	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71232555A>G	ENST00000268942.8	+	3	1128	c.934A>G	c.(934-936)Aat>Gat	p.N312D	FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000255557.4_Missense_Mutation_p.N312D|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000426147.2_Missense_Mutation_p.N312D|C17orf80_ENST00000359042.2_Missense_Mutation_p.N312D|C17orf80_ENST00000535032.2_Missense_Mutation_p.N312D|C17orf80_ENST00000577615.1_Missense_Mutation_p.N312D	NM_001100621.1	NP_001094091	Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	312						integral to membrane				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			GAGCAAAGGAAATGCAGAGAA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	71	75			NA	NA	17		NA											NA				71232555		2203	4300	6503	SO:0001583	missense			AY163812	CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1	17q25.1	2012-02-24	2012-02-24	2012-02-24	ENSG00000141219	ENSG00000141219	55028	55028			29601	protein-coding gene	gene with protein product	sperm-expressed protein 1, migration-inducing protein 3				NA	12477932	Standard	NM_017941	NM_017941	NA	Approved	HLC-8, MIG3, FLJ20721, SPEP1	uc002jjl.4	Q9BSJ5		ENST00000268942.8:c.934A>G	17.37:g.71232555A>G	ENSP00000268942:p.Asn312Asp	NA	A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	37	CCDS42377.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.513546	0.85389	.	.	ENSG00000141219	ENST00000255557;ENST00000359042;ENST00000268942;ENST00000426147;ENST00000535032	T;D;T;T;D	0.84070	2.56;-1.8;2.56;2.75;-1.8	5.28	-0.487	0.12060	.	0.649385	0.14750	N	0.300635	D	0.83050	0.5170	M	0.62723	1.935	0.09310	N	1	D;D;D;D	0.76494	0.986;0.976;0.986;0.999	P;P;P;D	0.64321	0.844;0.722;0.844;0.924	T	0.70193	-0.4939	10	0.18710	T	0.47	-8.5098	2.3039	0.04169	0.4772:0.2917:0.0892:0.1418	.	312;312;312;312	B7Z7E5;Q9BSJ5;Q9BSJ5-2;Q9BSJ5-3	.;CQ080_HUMAN;.;.	D	312	ENSP00000255557:N312D;ENSP00000351937:N312D;ENSP00000268942:N312D;ENSP00000396970:N312D;ENSP00000440551:N312D	ENSP00000255557:N312D	N	+	1	0	C17orf80	68744150	0.000000	0.05858	0.000000	0.03702	0.855000	0.48748	0.729000	0.26028	0.004000	0.14682	0.459000	0.35465	AAT	C17orf80-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000441890.1		+	ENST00000268942.8	Missense_Mutation	SNP	17 : 71232555 - 71232555 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	238	38
UBR2	23304	broad.mit.edu	37	6	42652582	42652582	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42652582G>A	ENST00000372901.1	+	44	5084	c.4826G>A	c.(4825-4827)aGc>aAc	p.S1609N	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372899.1_Missense_Mutation_p.S1609N			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1609					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GATTACAGCAGCCTCATTAAT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	68	67			NA	NA	6		NA											NA				42652582		2202	4300	6502	SO:0001583	missense			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048	23304	23304		Ubiquitin protein ligase E3 component n-recognins	21289	protein-coding gene	gene with protein product		609134	chromosome 6 open reading frame 133	C6orf133	NA		Standard	NM_015255	NM_015255	NA	Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372901.1:c.4826G>A	6.37:g.42652582G>A	ENSP00000361992:p.Ser1609Asn	NA	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	37		.	.	.	.	.	.	.	.	.	.	G	12.96	2.095316	0.36952	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.49432	0.78;0.78	5.64	4.77	0.60923	.	0.413235	0.31188	N	0.008095	T	0.29716	0.0742	L	0.53249	1.67	0.80722	D	1	B;B	0.31383	0.321;0.084	B;B	0.35688	0.208;0.039	T	0.11397	-1.0589	10	0.20519	T	0.43	-11.6774	14.2927	0.66289	0.0714:0.0:0.9286:0.0	.	1609;1609	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	N	1609	ENSP00000361990:S1609N;ENSP00000361992:S1609N	ENSP00000361990:S1609N	S	+	2	0	UBR2	42760560	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.718000	0.38001	1.374000	0.46228	0.643000	0.83706	AGC	UBR2-002	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000144880.1		+	ENST00000372901.1	Missense_Mutation	SNP	6 : 42652582 - 42652582 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	241	39
DNAJB11	51726	broad.mit.edu	37	3	186302256	186302256	+	Missense_Mutation	SNP	C	C	T	rs139219315		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186302256C>T	ENST00000439351.1	+	10	1819	c.890C>T	c.(889-891)gCg>gTg	p.A297V	DNAJB11_ENST00000265028.3_Missense_Mutation_p.A297V			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	297					protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		AGGCCAGGAGCGAAGCTATGG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	VAL/ALA	0,4406		0,0,2203	93	88	90		890	6.1	1	3	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAJB11	NM_016306.4	64	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign	297/359	186302256	1,13005	2203	4300	6503	SO:0001583	missense			AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520	51726	51726		Heat shock proteins / DNAJ (HSP40)	14889	protein-coding gene	gene with protein product		611341			NA	10827079, 11147971	Standard		NM_016306	NA	Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.890C>T	3.37:g.186302256C>T	ENSP00000414398:p.Ala297Val	NA	Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	37	CCDS3277.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.868128	0.91587	0.0	1.16E-4	ENSG00000090520	ENST00000439351;ENST00000265028	T;T	0.43688	0.94;0.94	6.08	6.08	0.98989	Chaperone DnaJ, C-terminal (1);HSP40/DnaJ peptide-binding (1);	0.046875	0.85682	D	0.000000	T	0.55353	0.1915	M	0.85630	2.765	0.80722	D	1	P	0.44946	0.846	B	0.43658	0.426	T	0.60281	-0.7294	10	0.48119	T	0.1	-13.9583	18.1573	0.89696	0.0:1.0:0.0:0.0	.	297	Q9UBS4	DJB11_HUMAN	V	297	ENSP00000414398:A297V;ENSP00000265028:A297V	ENSP00000265028:A297V	A	+	2	0	DNAJB11	187784950	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.578000	0.82498	2.894000	0.99253	0.655000	0.94253	GCG	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344779.1		+	ENST00000439351.1	Missense_Mutation	SNP	3 : 186302256 - 186302256 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	299	18
BAIAP2	10458	broad.mit.edu	37	17	79073803	79073803	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79073803G>T	ENST00000416299.2	+	2	154	c.154G>T	c.(154-156)Gag>Tag	p.E52*	BAIAP2_ENST00000428708.2_Nonsense_Mutation_p.E189*|BAIAP2_ENST00000392411.3_Nonsense_Mutation_p.E111*|BAIAP2_ENST00000435091.3_Nonsense_Mutation_p.E189*|BAIAP2_ENST00000321280.7_Nonsense_Mutation_p.E189*|BAIAP2_ENST00000575245.1_Nonsense_Mutation_p.E222*|BAIAP2_ENST00000321300.6_Nonsense_Mutation_p.E189*|BAIAP2_ENST00000575712.1_Nonsense_Mutation_p.E189*			Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	189	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)			CGCACTGACAGAGGAGCGCAG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	81	83			NA	NA	17		NA											NA				79073803		2203	4300	6503	SO:0001587	stop_gained			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.154G>T	17.37:g.79073803G>T	ENSP00000391837:p.Glu52*	NA	O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	37		.	.	.	.	.	.	.	.	.	.	G	21.9	4.220483	0.79464	.	.	ENSG00000175866	ENST00000321300;ENST00000428708;ENST00000435091;ENST00000321280;ENST00000392411;ENST00000416299	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.374	18.6597	0.91468	0.0:0.0:1.0:0.0	.	.	.	.	X	189;189;189;189;111;52	.	ENSP00000315685:E189X	E	+	1	0	BAIAP2	76688398	1.000000	0.71417	0.955000	0.39395	0.411000	0.31082	9.274000	0.95731	2.401000	0.81631	0.491000	0.48974	GAG	BAIAP2-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000438562.2		+	ENST00000416299.2	Nonsense_Mutation	SNP	17 : 79073803 - 79073803 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	427	15
UBTF	7343	broad.mit.edu	37	17	42295570	42295570	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42295570C>T	ENST00000302904.4	-	2	520	c.28G>A	c.(28-30)Gac>Aac	p.D10N	UBTF_ENST00000436088.1_Missense_Mutation_p.D10N|UBTF_ENST00000533177.1_Missense_Mutation_p.D10N|UBTF_ENST00000393606.3_Missense_Mutation_p.D10N|UBTF_ENST00000343638.5_Missense_Mutation_p.D10N|UBTF_ENST00000529383.1_Missense_Mutation_p.D10N|UBTF_ENST00000527034.1_Missense_Mutation_p.D10N|UBTF_ENST00000526094.1_Missense_Mutation_p.D10N|UBTF_ENST00000537550.1_5'UTR			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	10					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		ATTTCCAGGTCTGTGGGGCAG	0.652		NA									OREG0024457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	71	69			NA	NA	17		NA											NA				42295570		2203	4300	6503	SO:0001583	missense			BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312	7343	7343			12511	protein-coding gene	gene with protein product		600673			NA	9126496	Standard	NM_014233	NM_001076683	NA	Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.28G>A	17.37:g.42295570C>T	ENSP00000302640:p.Asp10Asn	907	A8K6R8	37	CCDS11480.1	.	.	.	.	.	.	.	.	.	.	c	16.53	3.150388	0.57151	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383;ENST00000530828	D;D;D;D;D;D;D;D;T	0.98419	-4.8;-4.06;-4.92;-4.8;-4.06;-4.8;-4.8;-4.06;0.87	4.41	4.41	0.53225	.	0.401718	0.20201	U	0.097092	D	0.94588	0.8256	N	0.24115	0.695	0.26591	N	0.973195	B;B;B	0.29716	0.167;0.003;0.255	B;B;B	0.26614	0.045;0.003;0.071	D	0.90894	0.4763	10	0.66056	D	0.02	-26.5052	10.4813	0.44695	0.0:0.9094:0.0:0.0906	.	10;10;10	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	N	10	ENSP00000345297:D10N;ENSP00000302640:D10N;ENSP00000431539:D10N;ENSP00000437180:D10N;ENSP00000390669:D10N;ENSP00000377231:D10N;ENSP00000432925:D10N;ENSP00000435708:D10N;ENSP00000433046:D10N	ENSP00000302640:D10N	D	-	1	0	UBTF	39651096	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	2.537000	0.45702	2.301000	0.77427	0.561000	0.74099	GAC	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395205.1		-	ENST00000302904.4	Missense_Mutation	SNP	17 : 42295570 - 42295570 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	701	108
KCNH5	27133	broad.mit.edu	37	14	63269190	63269190	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63269190C>T	ENST00000322893.7	-	9	1947	c.1679G>A	c.(1678-1680)cGc>cAc	p.R560H	KCNH5_ENST00000394968.1_Missense_Mutation_p.R502H|KCNH5_ENST00000420622.2_Missense_Mutation_p.R560H	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	560					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)		CGCCAAGGCGCGCAGACACCC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	78	79			NA	NA	14		NA											NA				63269190		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.1679G>A	14.37:g.63269190C>T	ENSP00000321427:p.Arg560His	NA		37	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509708	0.85282	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968	D;D;D	0.96885	-4.16;-4.16;-4.16	5.13	4.22	0.49857	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.98388	0.9464	M	0.91038	3.17	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.99445	1.0939	10	0.87932	D	0	.	15.065	0.71986	0.1432:0.8568:0.0:0.0	.	502;560;560	Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;KCNH5_HUMAN	H	560;560;502	ENSP00000321427:R560H;ENSP00000395439:R560H;ENSP00000378419:R502H	ENSP00000321427:R560H	R	-	2	0	KCNH5	62338943	1.000000	0.71417	0.865000	0.33974	0.885000	0.51271	6.029000	0.70895	1.262000	0.44165	0.563000	0.77884	CGC	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411747.1		-	ENST00000322893.7	Missense_Mutation	SNP	14 : 63269190 - 63269190 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	433	68
ITGA1	3672	broad.mit.edu	37	5	52160617	52160617	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52160617G>A	ENST00000282588.6	+	4	774	c.316G>A	c.(316-318)Gtc>Atc	p.V106I		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	106					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AATTCCCAATGTCACAGAAGT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	76	76			NA	NA	5		NA											NA				52160617		2203	4298	6501	SO:0001583	missense			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949	3672	3672		CD molecules, Integrins	6134	protein-coding gene	gene with protein product		192968			NA	8428973, 11937138	Standard	NM_181501	NM_181501	NA	Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.316G>A	5.37:g.52160617G>A	ENSP00000282588:p.Val106Ile	NA	B2RNU0	37	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474008	0.43942	.	.	ENSG00000213949	ENST00000282588	T	0.71341	-0.56	5.62	5.62	0.85841	.	0.132263	0.53938	D	0.000056	T	0.53417	0.1795	N	0.13235	0.315	0.40578	D	0.981368	P	0.36282	0.546	B	0.35312	0.2	T	0.56408	-0.7984	10	0.33940	T	0.23	.	13.273	0.60172	0.0726:0.0:0.9274:0.0	.	106	P56199	ITA1_HUMAN	I	106	ENSP00000282588:V106I	ENSP00000282588:V106I	V	+	1	0	ITGA1	52196374	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.087000	0.50167	2.810000	0.96702	0.585000	0.79938	GTC	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253855.3		+	ENST00000282588.6	Missense_Mutation	SNP	5 : 52160617 - 52160617 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	246	43
ELN	2006	broad.mit.edu	37	7	73470641	73470641	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73470641C>T	ENST00000252034.7	+	20	1590	c.1191C>T	c.(1189-1191)taC>taT	p.Y397Y	ELN_ENST00000429192.1_Silent_p.Y402Y|ELN_ENST00000466878.1_3'UTR|ELN_ENST00000380575.4_Silent_p.Y387Y|ELN_ENST00000358929.4_Silent_p.Y397Y|ELN_ENST00000380584.4_Silent_p.Y383Y|ELN_ENST00000380576.5_Silent_p.Y397Y|ELN_ENST00000414324.1_Silent_p.Y392Y|ELN_ENST00000380562.4_Silent_p.Y397Y|ELN_ENST00000458204.1_Silent_p.Y387Y|ELN_ENST00000320399.6_Silent_p.Y397Y|ELN_ENST00000320492.7_Silent_p.Y361Y|ELN_ENST00000357036.5_Silent_p.Y402Y|ELN_ENST00000445912.1_Silent_p.Y397Y|ELN_ENST00000380553.4_Silent_p.Y280Y	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	397	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TTCCTACTTACGGGGTTGGAG	0.632		NA	T	PAX5	B-ALL		Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome							NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		7	7q11.23	2006	elastin	yes	L	0													100	107	104			NA	NA	7		NA											NA				73470641		2203	4300	6503	SO:0001819	synonymous_variant				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540	2006	2006			3327	protein-coding gene	gene with protein product	tropoelastin, supravalvular aortic stenosis, Williams-Beuren syndrome	130160			NA	8096434	Standard	NM_000501	NM_001278939	NA	Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1191C>T	7.37:g.73470641C>T		NA	B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	37	CCDS5562.2																																																																																			ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316913.1		+	ENST00000252034.7	Silent	SNP	7 : 73470641 - 73470641 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	896	164
HNRNPM	4670	broad.mit.edu	37	19	8548057	8548057	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8548057C>T	ENST00000348943.3	+	14	1251	c.1019C>T	c.(1018-1020)gCa>gTa	p.A340V	HNRNPM_ENST00000325495.4_Missense_Mutation_p.A379V	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	379					alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						CTAAGTAATGCACTGAAGAGA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	166	168			NA	NA	19		NA											NA				8548057		2203	4300	6503	SO:0001583	missense			L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783	4670	4670		RNA binding motif (RRM) containing	5046	protein-coding gene	gene with protein product	CEA receptor	160994		NAGR1, HNRPM	NA	8441656, 7558047	Standard		NM_005968	NA	Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000348943.3:c.1019C>T	19.37:g.8548057C>T	ENSP00000325732:p.Ala340Val	NA	Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	37	CCDS12204.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528391	0.44969	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159	T;T	0.14893	2.47;2.77	4.54	4.54	0.55810	.	0.531586	0.20813	N	0.085208	T	0.14527	0.0351	L	0.34521	1.04	0.39913	D	0.974059	B;B;B;B	0.21905	0.062;0.018;0.034;0.008	B;B;B;B	0.21708	0.036;0.011;0.036;0.011	T	0.04281	-1.0963	10	0.40728	T	0.16	.	13.1032	0.59233	0.0:1.0:0.0:0.0	.	219;379;340;264	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	V	379;340;264	ENSP00000325376:A379V;ENSP00000325732:A340V	ENSP00000325376:A379V	A	+	2	0	HNRNPM	8454057	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.018000	0.49625	2.822000	0.97130	0.650000	0.86243	GCA	HNRNPM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460893.2		+	ENST00000348943.3	Missense_Mutation	SNP	19 : 8548057 - 8548057 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	394	50
CDH5	1003	broad.mit.edu	37	16	66436913	66436913	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66436913C>T	ENST00000539168.1	+	6	1347	c.513C>T	c.(511-513)ggC>ggT	p.G171G	CDH5_ENST00000341529.3_Silent_p.G732G			P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	732	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		ACATCTACGGCTACGAGGGCT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	46	49			NA	NA	16		NA											NA				66436913		2200	4300	6500	SO:0001819	synonymous_variant			X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776	1003	1003		CD molecules, Cadherins / Major cadherins	1764	protein-coding gene	gene with protein product	VE-cadherin	601120	cadherin 5, type 2, VE-cadherin (vascular epithelium)		NA	2059658	Standard	NM_001795	NM_001795	NA	Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000539168.1:c.513C>T	16.37:g.66436913C>T		NA		37																																																																																				CDH5-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000421001.2		+	ENST00000539168.1	Silent	SNP	16 : 66436913 - 66436913 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	149	33
CCDC88B	283234	broad.mit.edu	37	11	64109494	64109494	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64109494A>C	ENST00000356786.5	+	8	748	c.704A>C	c.(703-705)gAa>gCa	p.E235A	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	235					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTGGAGCGAGAACCCCTCTGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	30	30			NA	NA	11		NA											NA				64109494		2201	4297	6498	SO:0001583	missense			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071	283234	283234			26757	protein-coding gene	gene with protein product	brain leucine zipper protein, GRP78-interacting protein induced by ER stress	611205	coiled-coil domain containing 88	CCDC88	NA	15882442, 21289099	Standard	NM_032251	NM_032251	NA	Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.704A>C	11.37:g.64109494A>C	ENSP00000349238:p.Glu235Ala	NA	A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	37	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	.	14.33	2.504144	0.44558	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.35048	1.33	3.96	2.83	0.33086	.	.	.	.	.	T	0.34832	0.0911	M	0.69358	2.11	0.09310	N	0.999999	B;B	0.21606	0.058;0.058	B;B	0.22152	0.038;0.038	T	0.35325	-0.9793	9	0.62326	D	0.03	.	6.0024	0.19527	0.8807:0.0:0.1193:0.0	.	235;235	B2RTU8;A6NC98	.;CC88B_HUMAN	A	235	ENSP00000349238:E235A	ENSP00000349238:E235A	E	+	2	0	CCDC88B	63866070	0.090000	0.21635	0.001000	0.08648	0.263000	0.26337	2.591000	0.46163	0.718000	0.32166	0.359000	0.22050	GAA	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000104845.1		+	ENST00000356786.5	Missense_Mutation	SNP	11 : 64109494 - 64109494 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	196	42
COG4	25839	broad.mit.edu	37	16	70557354	70557354	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70557354T>G	ENST00000323786.5	-	1	114	c.93A>C	c.(91-93)gaA>gaC	p.E31D	COG4_ENST00000564653.1_Missense_Mutation_p.E31D|COG4_ENST00000393612.4_Missense_Mutation_p.E27D	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	27	Interacts with SCFD1.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				CAGCGGAGATTTCGGAGCAGC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	47	45			NA	NA	16		NA											NA				70557354		2198	4300	6498	SO:0001583	missense			AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051	25839	25839		Components of oligomeric golgi complex	18620	protein-coding gene	gene with protein product		606976			NA	11980916	Standard		NM_015386	NA	Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.93A>C	16.37:g.70557354T>G	ENSP00000315775:p.Glu31Asp	NA	B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	37	CCDS10892.2	.	.	.	.	.	.	.	.	.	.	T	15.82	2.945891	0.53079	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000393612	T;T	0.46063	0.91;0.88	5.82	3.4	0.38934	.	0.258733	0.44483	D	0.000443	T	0.15132	0.0365	N	0.02539	-0.55	0.20489	N	0.999893	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.05699	-1.0869	10	0.37606	T	0.19	-7.5648	4.091	0.09970	0.0:0.1387:0.4325:0.4287	.	26;27	Q6PIW8;Q9H9E3	.;COG4_HUMAN	D	31;27;27	ENSP00000315775:E31D;ENSP00000377236:E27D	ENSP00000315775:E31D	E	-	3	2	COG4	69114855	0.997000	0.39634	1.000000	0.80357	0.984000	0.73092	0.232000	0.17891	2.225000	0.72522	0.460000	0.39030	GAA	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250326.3		-	ENST00000323786.5	Missense_Mutation	SNP	16 : 70557354 - 70557354 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	353	76
PCNXL4	64430	broad.mit.edu	37	14	60585139	60585139	+	Silent	SNP	A	A	G	rs139085229	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60585139A>G	ENST00000406854.1	+	7	2225	c.1671A>G	c.(1669-1671)caA>caG	p.Q557Q	PCNXL4_ENST00000406949.1_Silent_p.Q323Q|PCNXL4_ENST00000317623.4_Silent_p.Q323Q|PCNXL4_ENST00000404681.2_Silent_p.Q557Q					pecanex-like 4 (Drosophila)	NA											NA						AGAAAAAACAACGTCGAAAAA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	102	102			NA	NA	14		NA											NA				60585139		2168	4288	6456	SO:0001819	synonymous_variant			AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773	64430	64430			20349	protein-coding gene	gene with protein product			chromosome 14 open reading frame 135	C14orf135	NA		Standard	NM_022495	NM_022495	NA	Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.1671A>G	14.37:g.60585139A>G		NA		37																																																																																				PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000317847.1		+	ENST00000406854.1	Silent	SNP	14 : 60585139 - 60585139 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	110	25
CCDC70	83446	broad.mit.edu	37	13	52439824	52439824	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52439824G>T	ENST00000242819.4	+	2	606	c.310G>T	c.(310-312)Gaa>Taa	p.E104*		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	104						extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		CTGGAAAGAGGAAAAATCCTT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	78	73			NA	NA	13		NA											NA				52439824		2203	4298	6501	SO:0001587	stop_gained				CCDS9431.1	13q14.3	2006-02-07			ENSG00000123171	ENSG00000123171	83446	83446			25303	protein-coding gene	gene with protein product					NA	11230166	Standard	NM_031290	NM_031290	NA	Approved	DKFZP434K1172, FLJ25853	uc001vfu.4	Q6NSX1	OTTHUMG00000016950	ENST00000242819.4:c.310G>T	13.37:g.52439824G>T	ENSP00000242819:p.Glu104*	NA	Q8N7A8|Q9H097	37	CCDS9431.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.603293	0.46423	.	.	ENSG00000123171	ENST00000242819	.	.	.	5.83	-0.0301	0.13915	.	0.323654	0.26688	N	0.023011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-2.8378	5.4271	0.16431	0.4361:0.0:0.4358:0.1281	.	.	.	.	X	104	.	ENSP00000242819:E104X	E	+	1	0	CCDC70	51337825	0.962000	0.33011	0.000000	0.03702	0.000000	0.00434	1.555000	0.36277	-0.092000	0.12417	-0.768000	0.03414	GAA	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045033.2		+	ENST00000242819.4	Nonsense_Mutation	SNP	13 : 52439824 - 52439824 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	673	64
DNAH11	8701	broad.mit.edu	37	7	21640477	21640477	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21640477G>A	ENST00000409508.3	+	16	3215	c.3184G>A	c.(3184-3186)Gat>Aat	p.D1062N	DNAH11_ENST00000328843.6_Missense_Mutation_p.D1062N	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1062	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGTGTCTTCCGATGAAATGGA	0.433		NA							Kartagener syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	140	143			NA	NA	7		NA											NA				21640477		1923	4140	6063	SO:0001583	missense	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04				8701	8701		Axonemal dyneins	2942	protein-coding gene	gene with protein product	dynein, ciliary, heavy chain 11, dynein, heavy chain beta-like	603339	dynein, axonemal, heavy polypeptide 11		NA	9256245	Standard	NM_003777	NM_001277115	NA	Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3184G>A	7.37:g.21640477G>A	ENSP00000475939:p.Asp1062Asn	NA	Q9UJ82	37		.	.	.	.	.	.	.	.	.	.	G	13.36	2.212545	0.39102	.	.	ENSG00000105877	ENST00000328843	T	0.22743	1.94	5.43	5.43	0.79202	.	0.116822	0.56097	D	0.000036	T	0.17408	0.0418	.	.	.	0.49130	D	0.99975	P	0.36483	0.555	B	0.27500	0.08	T	0.02546	-1.1143	9	0.37606	T	0.19	.	18.013	0.89230	0.0:0.0:1.0:0.0	.	1062	Q96DT5	DYH11_HUMAN	N	1062	ENSP00000330671:D1062N	ENSP00000330671:D1062N	D	+	1	0	DNAH11	21607002	1.000000	0.71417	0.929000	0.37066	0.038000	0.13279	3.454000	0.52986	2.563000	0.86464	0.563000	0.77884	GAT	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000326582.6		+	ENST00000409508.3	Missense_Mutation	SNP	7 : 21640477 - 21640477 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	729	142
SRRM4	84530	broad.mit.edu	37	12	119568590	119568590	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119568590C>T	ENST00000267260.4	+	8	1110	c.722C>T	c.(721-723)cCg>cTg	p.P241L	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	241	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						TCCAGTCGCCCGCCCAGTCAA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	30	28			NA	NA	12		NA											NA				119568590		1940	4136	6076	SO:0001583	missense			AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767	84530	84530			29389	protein-coding gene	gene with protein product	neural-specific SR-related protein of 100 kDa	613103	KIAA1853	KIAA1853	NA	19737518	Standard	NM_194286	NM_194286	NA	Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.722C>T	12.37:g.119568590C>T	ENSP00000267260:p.Pro241Leu	NA	A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	37	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	C	4.702	0.130604	0.08981	.	.	ENSG00000139767	ENST00000267260	T	0.21191	2.02	4.68	-1.97	0.07503	.	0.607362	0.17342	N	0.177731	T	0.06096	0.0158	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30179	-0.9987	10	0.11182	T	0.66	-0.0964	0.4273	0.00465	0.2622:0.2692:0.1288:0.3398	.	241	A7MD48	SRRM4_HUMAN	L	241	ENSP00000267260:P241L	ENSP00000267260:P241L	P	+	2	0	SRRM4	118052973	0.000000	0.05858	0.053000	0.19242	0.065000	0.16274	0.005000	0.13129	-0.299000	0.08909	-0.480000	0.04831	CCG	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401640.2		+	ENST00000267260.4	Missense_Mutation	SNP	12 : 119568590 - 119568590 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	138	30
C2orf48	348738	broad.mit.edu	37	2	10350578	10350578	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10350578T>C	ENST00000381786.3	+	4	624	c.335T>C	c.(334-336)tTc>tCc	p.F112S		NM_182626.2	NP_872432.1	Q96LS8	CB048_HUMAN	chromosome 2 open reading frame 48	112										endometrium(1)|lung(7)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)		CGACCCTGTTTCAGAATGAAG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	55	54			NA	NA	2		NA											NA				10350578		2203	4300	6503	SO:0001583	missense			AK057831	CCDS1670.1	2p25.1	2006-09-01			ENSG00000163009	ENSG00000163009	348738	348738			26322	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_182626	NM_182626	NA	Approved	FLJ25102	uc021vds.1	Q96LS8	OTTHUMG00000119017	ENST00000381786.3:c.335T>C	2.37:g.10350578T>C	ENSP00000371205:p.Phe112Ser	NA		37	CCDS1670.1	.	.	.	.	.	.	.	.	.	.	T	7.417	0.635880	0.14386	.	.	ENSG00000163009	ENST00000381786	T	0.46451	0.87	1.51	-0.013	0.13986	.	.	.	.	.	T	0.17492	0.0420	N	0.08118	0	0.09310	N	1	P	0.50710	0.938	B	0.37943	0.261	T	0.13656	-1.0501	9	0.87932	D	0	.	3.5676	0.07905	0.5114:0.0:0.0:0.4886	.	112	Q96LS8	CB048_HUMAN	S	112	ENSP00000371205:F112S	ENSP00000371205:F112S	F	+	2	0	C2orf48	10268029	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.390000	0.07332	-0.033000	0.13736	0.448000	0.29417	TTC	C2orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239217.1		+	ENST00000381786.3	Missense_Mutation	SNP	2 : 10350578 - 10350578 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	491	99
WDR19	57728	broad.mit.edu	37	4	39191347	39191347	+	Translation_Start_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39191347T>G	ENST00000399820.3	+	4	390	c.236T>G	c.(235-237)aTt>aGt	p.I79S	WDR19_ENST00000506503.1_Missense_Mutation_p.I79S|WDR19_ENST00000288634.7_De_novo_Start_OutOfFrame	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	79					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TCTAGCTGCATTTATCTTTGG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	110	110			NA	NA	4		NA											NA				39191347		1850	4117	5967	SO:0001583	missense			AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796	57728	57728		WD repeat domain containing, Intraflagellar transport homologs	18340	protein-coding gene	gene with protein product	intraflagellar transport 144 homolog (Chlamydomonas)	608151			NA	12906858, 22019273	Standard		XM_005262658	NA	Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.236T>G	4.37:g.39191347T>G	ENSP00000382717:p.Ile79Ser	NA	B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	37	CCDS47042.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.564276	0.86335	.	.	ENSG00000157796	ENST00000399820;ENST00000509560;ENST00000506503;ENST00000399836	T;T;T	0.38560	3.0;1.13;3.0	5.94	5.94	0.96194	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.043861	0.85682	D	0.000000	T	0.67468	0.2896	M	0.85542	2.76	0.80722	D	1	D;D	0.60160	0.987;0.987	D;D	0.64042	0.913;0.921	T	0.73335	-0.4015	10	0.87932	D	0	-21.0613	16.3939	0.83550	0.0:0.0:0.0:1.0	.	79;79	Q8NEZ3;D6R9P6	WDR19_HUMAN;.	S	79;20;79;78	ENSP00000382717:I79S;ENSP00000426918:I20S;ENSP00000423491:I79S	ENSP00000382717:I79S	I	+	2	0	WDR19	38867742	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.670000	0.83925	2.276000	0.75962	0.455000	0.32223	ATT	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360689.1		+	ENST00000399820.3	Missense_Mutation	SNP	4 : 39191347 - 39191347 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	288	48
CPB1	1360	broad.mit.edu	37	3	148575278	148575278	+	Missense_Mutation	SNP	C	C	A	rs149931188		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148575278C>A	ENST00000498639.1	+	0	381				CPB1_ENST00000491148.1_Missense_Mutation_p.A339D|CPB1_ENST00000282957.4_Missense_Mutation_p.A339D|RP11-680B3.2_ENST00000488190.1_RNA			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	NA					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AAAGAACTTGCCTCACTGCAC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	106	110			NA	NA	3		NA											NA				148575278		2203	4300	6503	SO:0001624	3_prime_UTR_variant			AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	1360	1360	3.4.17.2		2299	protein-coding gene	gene with protein product	pancreatic carboxypeptidase B, tissue carboxypeptidase B, protaminase	114852			NA		Standard	NM_001871	XM_005247124	NA	Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000498639.1:c.*378C>A	3.37:g.148575278C>A		NA	O60834|Q53XJ0|Q96BQ8	37		.	.	.	.	.	.	.	.	.	.	C	15.22	2.769244	0.49680	.	.	ENSG00000153002	ENST00000491148;ENST00000282957	T;T	0.11277	2.79;2.79	5.89	5.0	0.66597	Peptidase M14, carboxypeptidase A (2);	0.487974	0.24810	N	0.035419	T	0.13114	0.0318	L	0.55103	1.725	0.37101	D	0.899904	P	0.45634	0.863	B	0.41666	0.363	T	0.20338	-1.0278	10	0.17832	T	0.49	.	15.0493	0.71854	0.1431:0.8569:0.0:0.0	.	339	P15086	CBPB1_HUMAN	D	339	ENSP00000417222:A339D;ENSP00000282957:A339D	ENSP00000282957:A339D	A	+	2	0	CPB1	150057968	0.123000	0.22298	0.064000	0.19789	0.366000	0.29705	3.589000	0.53972	1.452000	0.47756	0.557000	0.71058	GCC	CPB1-019	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000355946.1		+	ENST00000498639.1	3'UTR	SNP	3 : 148575278 - 148575278 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	249	43
UNC5CL	222643	broad.mit.edu	37	6	40996163	40996163	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:40996163C>A	ENST00000373164.1	-	8	1566	c.1506G>T	c.(1504-1506)gaG>gaT	p.E502D	UNC5CL_ENST00000470102.1_5'UTR|UNC5CL_ENST00000244565.3_Missense_Mutation_p.E502D			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	502					signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CGCCCCCGCGCTCGGGGCCTG	0.687		NA									OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	13	13			NA	NA	6		NA											NA				40996163		2176	4255	6431	SO:0001583	missense			BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602	222643	222643			21203	protein-coding gene	gene with protein product	ZU5 and death domain containing				NA	14769797	Standard	NM_173561	NM_173561	NA	Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.1506G>T	6.37:g.40996163C>A	ENSP00000362258:p.Glu502Asp	897	Q5TGU1	37	CCDS4847.1	.	.	.	.	.	.	.	.	.	.	C	7.147	0.582907	0.13749	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.14516	2.5;2.5	4.32	-1.68	0.08212	.	4.313200	0.00744	N	0.001035	T	0.02418	0.0074	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.15484	0.013	T	0.46456	-0.9190	10	0.13853	T	0.58	0.6004	16.5715	0.84613	0.0:0.7392:0.2608:0.0	.	502	Q8IV45	UN5CL_HUMAN	D	502	ENSP00000244565:E502D;ENSP00000362258:E502D	ENSP00000244565:E502D	E	-	3	2	UNC5CL	41104141	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.207000	0.09384	-0.351000	0.08249	-0.344000	0.07964	GAG	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040491.1		-	ENST00000373164.1	Missense_Mutation	SNP	6 : 40996163 - 40996163 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	138	31
ZFHX3	463	broad.mit.edu	37	16	72822708	72822708	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72822708C>T	ENST00000268489.5	-	10	10139	c.9467G>A	c.(9466-9468)aGc>aAc	p.S3156N	ZFHX3_ENST00000397992.5_Missense_Mutation_p.S2242N	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3156					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AACAGTTGTGCTGGGCAGACC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	105	104			NA	NA	16		NA											NA				72822708		2198	4300	6498	SO:0001583	missense			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836	463	463		Zinc fingers, C2H2-type, Homeoboxes / ZF class	777	protein-coding gene	gene with protein product		104155	AT-binding transcription factor 1	ATBF1	NA	1719379, 7592926	Standard	NM_006885	NM_006885	NA	Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.9467G>A	16.37:g.72822708C>T	ENSP00000268489:p.Ser3156Asn	NA	D3DWS8|O15101|Q13719	37	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.259301	0.39995	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74737	-0.87;-0.86	5.89	5.89	0.94794	.	0.209166	0.32753	N	0.005690	T	0.64227	0.2579	N	0.19112	0.55	0.52099	D	0.999941	B	0.27559	0.181	B	0.21360	0.034	T	0.60611	-0.7229	10	0.49607	T	0.09	.	20.2527	0.98410	0.0:1.0:0.0:0.0	.	3156	Q15911	ZFHX3_HUMAN	N	3156;2242	ENSP00000268489:S3156N;ENSP00000438926:S2242N	ENSP00000268489:S3156N	S	-	2	0	ZFHX3	71380209	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.277000	0.51654	2.788000	0.95919	0.557000	0.71058	AGC	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269008.1		-	ENST00000268489.5	Missense_Mutation	SNP	16 : 72822708 - 72822708 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1126	175
COL21A1	81578	broad.mit.edu	37	6	55922469	55922469	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55922469C>A	ENST00000244728.5	-	30	3257	c.2860G>T	c.(2860-2862)Gga>Tga	p.G954*	COL21A1_ENST00000370819.1_Nonsense_Mutation_p.G951*|COL21A1_ENST00000370808.2_Nonsense_Mutation_p.G320*|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000535941.1_Nonsense_Mutation_p.G954*	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	954					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TAGTTTGGTCCTTTTCTGAAC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	81	82			NA	NA	6		NA											NA				55922469		1910	4132	6042	SO:0001587	stop_gained			AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749	NA	81578		Collagens	17025	protein-coding gene	gene with protein product		610002			NA	11566190	Standard		XR_241922	NA	Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.2860G>T	6.37:g.55922469C>A	ENSP00000244728:p.Gly954*	NA	A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	37	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	C	39	7.607457	0.98387	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811;ENST00000370808	.	.	.	4.62	4.62	0.57501	.	0.000000	0.53938	D	0.000050	.	.	.	.	.	.	0.44055	D	0.996794	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.8313	0.88683	0.0:1.0:0.0:0.0	.	.	.	.	X	954;951;954;951;320	.	ENSP00000244728:G954X	G	-	1	0	COL21A1	56030428	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	6.794000	0.75135	2.275000	0.75901	0.655000	0.94253	GGA	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041004.2		-	ENST00000244728.5	Nonsense_Mutation	SNP	6 : 55922469 - 55922469 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	165	32
ATL1	51062	broad.mit.edu	37	14	51094994	51094994	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51094994C>T	ENST00000441560.2	+	13	1846	c.1365C>T	c.(1363-1365)atC>atT	p.I455I	ATL1_ENST00000358385.6_Silent_p.I455I|ATL1_ENST00000357032.3_Silent_p.I455I|ATL1_ENST00000354525.4_Silent_p.I455I	NM_001127713.1	NP_001121185.1	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	455	Sufficient for membrane association.				axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						TTGTAGTCATCTTTATCACAT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													212	179	190			NA	NA	14		NA											NA				51094994		2203	4300	6503	SO:0001819	synonymous_variant			AF131801	CCDS9700.1, CCDS32077.1	14q21.3	2014-09-17	2008-09-17	2008-09-17	ENSG00000198513	ENSG00000198513	51062	51062			11231	protein-coding gene	gene with protein product	atlastin	606439	spastic paraplegia 3A (autosomal dominant)	SPG3, SPG3A	NA	8252041, 7825576	Standard		NM_015915	NA	Approved	FSP1, AD-FSP	uc001wyd.4	Q8WXF7	OTTHUMG00000140297	ENST00000441560.2:c.1365C>T	14.37:g.51094994C>T		NA	A6NND5|A8K2C0|O95890|Q96FK0	37	CCDS32077.1																																																																																			ATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410925.1		+	ENST00000441560.2	Silent	SNP	14 : 51094994 - 51094994 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	444	124
RAB4B-EGLN2	100529264	broad.mit.edu	37	19	41289706	41289706	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41289706G>A	ENST00000594136.1	+	4	341	c.236G>A	c.(235-237)cGa>cAa	p.R79Q	RAB4B_ENST00000357052.2_Missense_Mutation_p.R79Q|MIA-RAB4B_ENST00000600729.1_3'UTR|RAB4B-EGLN2_ENST00000601949.1_Intron|RAB4B_ENST00000594800.1_Missense_Mutation_p.R79Q|RAB4B_ENST00000602069.1_Intron					RAB4B-EGLN2 readthrough (NMD candidate)	NA											NA						AGTTATTACCGAGGGGCGGCT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	23	22			NA	NA	19		NA											NA				41289706		2203	4300	6503	SO:0001583	missense			AK291385		19q13.2	2013-05-09	2013-05-09		ENSG00000171570	ENSG00000171570	100529264	100529264			44465	other	readthrough	RAB4B-EGLN2 readthrough long non-coding RNA				NA	23026137	Standard	NR_037791	NR_037791	NA	Approved	RERT-lncRNA			OTTHUMG00000182702	ENST00000594136.1:c.236G>A	19.37:g.41289706G>A	ENSP00000469872:p.Arg79Gln	NA		37	CCDS33030.1	.	.	.	.	.	.	.	.	.	.	G	34	5.380825	0.95945	.	.	ENSG00000167578	ENST00000357052;ENST00000378307	D;D	0.81821	-1.54;-1.54	4.79	4.79	0.61399	Small GTP-binding protein domain (1);	0.071260	0.53938	D	0.000059	D	0.91818	0.7411	M	0.93594	3.435	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	P;D	0.66847	0.897;0.947	D	0.94142	0.7398	10	0.87932	D	0	.	16.5844	0.84724	0.0:0.0:1.0:0.0	.	114;79	P61018-2;P61018	.;RAB4B_HUMAN	Q	79	ENSP00000349560:R79Q;ENSP00000367557:R79Q	ENSP00000349560:R79Q	R	+	2	0	RAB4B	45981546	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.388000	0.97237	2.195000	0.70347	0.436000	0.28706	CGA	RAB4B-EGLN2-003	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000464583.2		+	ENST00000594136.1	Missense_Mutation	SNP	19 : 41289706 - 41289706 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	235	42
PLXNA4	91584	broad.mit.edu	37	7	131908351	131908351	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131908351G>A	ENST00000359827.3	-	9	2994	c.2032C>T	c.(2032-2034)Cgg>Tgg	p.R678W	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R678W			Q9HCM2	PLXA4_HUMAN	plexin A4	678	PSI 2.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CAGACATGCCGGTATTTACAC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	47	46			NA	NA	7		NA											NA				131908351		2099	4251	6350	SO:0001583	missense			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866	91584	91584		Plexins	9102	protein-coding gene	gene with protein product		604280	plexin A4, A, plexin A4, B	PLXNA4A, PLXNA4B	NA		Standard	NM_181775	NM_181775	NA	Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.2032C>T	7.37:g.131908351G>A	ENSP00000352882:p.Arg678Trp	NA	Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120518	0.77323	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.18502	2.21;2.21	5.8	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.46776	0.1410	M	0.87547	2.89	0.58432	D	0.999999	D	0.89917	1.0	D	0.73708	0.981	T	0.55885	-0.8070	10	0.72032	D	0.01	.	14.8525	0.70309	0.0:0.0:0.7376:0.2624	.	678	Q9HCM2	PLXA4_HUMAN	W	678	ENSP00000323194:R678W;ENSP00000352882:R678W	ENSP00000323194:R678W	R	-	1	2	PLXNA4	131558891	1.000000	0.71417	0.993000	0.49108	0.930000	0.56654	3.686000	0.54685	0.765000	0.33221	-0.169000	0.13324	CGG	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000338422.2		-	ENST00000359827.3	Missense_Mutation	SNP	7 : 131908351 - 131908351 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	123	19
STXBP2	6813	broad.mit.edu	37	19	7707366	7707366	+	Silent	SNP	C	C	T	rs143108973	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7707366C>T	ENST00000441779.2	+	10	916	c.879C>T	c.(877-879)gaC>gaT	p.D293D	STXBP2_ENST00000414284.2_Silent_p.D279D|STXBP2_ENST00000221283.5_Silent_p.D282D	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN	syntaxin binding protein 2	282					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						TCTTGCTGGACGAGGACGATG	0.662		NA											C	3	0.0014	0.0041	0.0028	2184	NA	0.9999	,	,	NA	9e-04	NA	NA	NA	0.0014	0.9594	EXOME	NA	NA	0.001	SNP								NA				0								C	,	14,4392	21.2+/-45.6	0,14,2189	151	150	150		837,846	-6.6	0.2	19	dbSNP_134	150	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	STXBP2	NM_001127396.1,NM_006949.2	,	0,14,6489	TT,TC,CC	NA	0.0,0.3177,0.1076	,	279/591,282/594	7707366	14,12992	2203	4300	6503	SO:0001819	synonymous_variant			U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944	6813	6813			11445	protein-coding gene	gene with protein product		601717			NA	8921365	Standard	NM_006949	NM_001127396	NA	Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000441779.2:c.879C>T	19.37:g.7707366C>T		NA	Q9BU65	37																																																																																				STXBP2-003	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000460961.1		+	ENST00000441779.2	Silent	SNP	19 : 7707366 - 7707366 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1225	252
C7orf25	79020	broad.mit.edu	37	7	42950303	42950303	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42950303C>T	ENST00000350427.4	-	2	472	c.197G>A	c.(196-198)aGc>aAc	p.S66N	C7orf25_ENST00000447342.1_Missense_Mutation_p.S66N|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000431882.2_Missense_Mutation_p.S124N|C7orf25_ENST00000438029.1_Missense_Mutation_p.S66N			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	66								p.S66N(1)		endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						TAGGTTAGTGCTCTGTAAATG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											179	171	174			NA	NA	7		NA											NA				42950303		2203	4300	6503	SO:0001583	missense			BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197	79020	79020			21703	protein-coding gene	gene with protein product					NA		Standard	NM_024054	NM_024054	NA	Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.197G>A	7.37:g.42950303C>T	ENSP00000343364:p.Ser66Asn	NA	A4D1V2|Q9H779	37	CCDS5466.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605821	0.66445	.	.	ENSG00000136197	ENST00000350427;ENST00000447342;ENST00000431882;ENST00000438029;ENST00000425683;ENST00000421724;ENST00000432637	T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47	5.56	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.73814	0.3635	M	0.82823	2.61	0.80722	D	1	B;B;D	0.89917	0.085;0.085;1.0	B;B;D	0.79784	0.072;0.072;0.993	T	0.78685	-0.2108	10	0.87932	D	0	-19.246	14.2576	0.66062	0.0:0.9285:0.0:0.0715	.	66;124;66	C9K0L6;B4DQM3;Q9BPX7	.;.;CG025_HUMAN	N	66;66;124;66;66;80;66	ENSP00000343364:S66N;ENSP00000413029:S66N;ENSP00000416290:S124N;ENSP00000396597:S66N;ENSP00000413106:S66N;ENSP00000416542:S66N	ENSP00000343364:S66N	S	-	2	0	C7orf25	42916828	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.456000	0.80751	1.348000	0.45733	0.555000	0.69702	AGC	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250814.2		-	ENST00000350427.4	Missense_Mutation	SNP	7 : 42950303 - 42950303 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	818	166
FCRLB	127943	broad.mit.edu	37	1	161695827	161695827	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161695827C>T	ENST00000367948.2	+	6	739	c.524C>T	c.(523-525)cCg>cTg	p.P175L	FCRLB_ENST00000367944.3_Missense_Mutation_p.P168L|FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000367946.3_Missense_Mutation_p.P175L|FCRLB_ENST00000392158.1_Missense_Mutation_p.P175L|FCRLB_ENST00000367945.1_Missense_Mutation_p.P168L|FCRLB_ENST00000336830.5_Missense_Mutation_p.P175L			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	175	Ig-like C2-type 2.					endoplasmic reticulum				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			ATGCGCATCCCGGTGGAGAGC	0.637		NA									OREG0013944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	37	36			NA	NA	1		NA											NA				161695827		2203	4300	6503	SO:0001583	missense			AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746	127943	127943		Immunoglobulin superfamily / Immunoglobulin-like domain containing	26431	protein-coding gene	gene with protein product		609251	Fc receptor-like and mucin-like 2	FCRLM2	NA	15676285	Standard	NM_152378	NM_001288829	NA	Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.524C>T	1.37:g.161695827C>T	ENSP00000356925:p.Pro175Leu	1818	A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	37	CCDS30927.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.547364	0.86022	.	.	ENSG00000162746	ENST00000367948;ENST00000367946;ENST00000367945;ENST00000336830;ENST00000367944;ENST00000392158	T;T;T;T;T;T	0.00700	5.82;5.82;5.82;5.82;5.82;5.82	4.51	4.51	0.55191	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.256742	0.27715	N	0.018148	T	0.01189	0.0039	L	0.36672	1.1	0.50039	D	0.999846	D;D;D;D;D	0.89917	0.981;1.0;0.999;0.994;1.0	B;D;P;P;D	0.87578	0.43;0.998;0.864;0.764;0.987	T	0.75260	-0.3380	10	0.48119	T	0.1	.	12.7124	0.57098	0.0:1.0:0.0:0.0	.	168;168;175;175;175	Q6BAA4-3;Q6BAA4-5;Q6BAA4-2;Q6BAA4-4;Q6BAA4	.;.;.;.;FCRLB_HUMAN	L	175;175;168;175;168;175	ENSP00000356925:P175L;ENSP00000356923:P175L;ENSP00000356922:P168L;ENSP00000338598:P175L;ENSP00000356921:P168L;ENSP00000375999:P175L	ENSP00000338598:P175L	P	+	2	0	FCRLB	159962451	0.946000	0.32159	0.995000	0.50966	0.976000	0.68499	2.163000	0.42377	2.038000	0.60285	0.455000	0.32223	CCG	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083585.1		+	ENST00000367948.2	Missense_Mutation	SNP	1 : 161695827 - 161695827 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	332	56
SNX29	92017	broad.mit.edu	37	16	12450028	12450028	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:12450028G>T	ENST00000566228.1	+	16	1860	c.1791G>T	c.(1789-1791)gaG>gaT	p.E597D	SNX29_ENST00000306030.3_Missense_Mutation_p.E212D|SNX29_ENST00000323433.4_Missense_Mutation_p.E212D	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	212					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						AGGTGGCAGAGATGCATGGCG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	43	42			NA	NA	16		NA											NA				12450028		2077	4216	6293	SO:0001583	missense			AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471	92017	92017		Sorting nexins	30542	protein-coding gene	gene with protein product			RUN domain containing 2A	RUNDC2A	NA	16782399	Standard		XM_005255682	NA	Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.1791G>T	16.37:g.12450028G>T	ENSP00000456480:p.Glu597Asp	NA	B5MDW2|Q8N2X2	37	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275544	0.59649	.	.	ENSG00000048471	ENST00000306030;ENST00000323433	.	.	.	5.36	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.28532	0.0706	L	0.38175	1.15	0.26902	N	0.967094	.	.	.	.	.	.	T	0.11717	-1.0576	7	0.30854	T	0.27	-28.2457	4.8659	0.13607	0.2513:0.0:0.7487:0.0	.	.	.	.	D	212	.	ENSP00000306940:E212D	E	+	3	2	SNX29	12357529	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	4.968000	0.63728	2.496000	0.84212	0.563000	0.77884	GAG	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000422622.1		+	ENST00000566228.1	Missense_Mutation	SNP	16 : 12450028 - 12450028 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	117	27
MAP1LC3A	84557	broad.mit.edu	37	20	33147545	33147545	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33147545G>A	ENST00000360668.3	+	4	970	c.209G>A	c.(208-210)cGc>cAc	p.R70H	MAP1LC3A_ENST00000374837.3_Missense_Mutation_p.R74H|MAP1LC3A_ENST00000397709.1_Missense_Mutation_p.R70H|MAP1LC3A_ENST00000476428.1_3'UTR			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha	70					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						TGCAGGCGCCGCCTGCAGCTG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	40	37			NA	NA	20		NA											NA				33147545		2195	4294	6489	SO:0001583	missense				CCDS13237.1, CCDS13238.1	20q11.22	2014-02-12			ENSG00000101460	ENSG00000101460	84557	84557			6838	protein-coding gene	gene with protein product		601242			NA	8833088, 17580304	Standard	NM_181509	NM_032514	NA	Approved	MAP1BLC3, MAP1ALC3, LC3, LC3A, ATG8E	uc002xaq.2	Q9H492	OTTHUMG00000032306	ENST00000360668.3:c.209G>A	20.37:g.33147545G>A	ENSP00000353886:p.Arg70His	NA	E1P5P4|E1P5P5|Q9BXW5	37	CCDS13238.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479684	0.84747	.	.	ENSG00000101460	ENST00000374837;ENST00000360668;ENST00000397709	T;T;T	0.60797	0.16;0.16;0.16	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.73737	0.3625	M	0.72118	2.19	0.80722	D	1	B;D	0.76494	0.327;0.999	B;P	0.61477	0.187;0.889	T	0.76852	-0.2806	10	0.66056	D	0.02	-7.2633	18.3968	0.90502	0.0:0.0:1.0:0.0	.	70;74	Q9H492;Q9H492-2	MLP3A_HUMAN;.	H	74;70;70	ENSP00000363970:R74H;ENSP00000353886:R70H;ENSP00000380821:R70H	ENSP00000353886:R70H	R	+	2	0	MAP1LC3A	32611206	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	9.774000	0.98992	2.434000	0.82447	0.313000	0.20887	CGC	MAP1LC3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078801.2		+	ENST00000360668.3	Missense_Mutation	SNP	20 : 33147545 - 33147545 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	694	137
TRPC4AP	26133	broad.mit.edu	37	20	33591414	33591414	+	Silent	SNP	G	G	A	rs145462116	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33591414G>A	ENST00000252015.2	-	18	2144	c.2055C>T	c.(2053-2055)aaC>aaT	p.N685N	TRPC4AP_ENST00000451813.2_Silent_p.N677N|TRPC4AP_ENST00000539834.1_Silent_p.N287N|TRPC4AP_ENST00000432634.2_Silent_p.N646N			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	685					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GGCAGCTGACGTTCTCCTGCA	0.667		NA											G	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0								G	,	4,4402	8.1+/-20.4	0,4,2199	31	27	29		2055,2031	-8	0.5	20	dbSNP_134	29	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TRPC4AP	NM_015638.2,NM_199368.1	,	0,4,6499	AA,AG,GG	NA	0.0,0.0908,0.0308	,	685/798,677/790	33591414	4,13002	2203	4300	6503	SO:0001819	synonymous_variant			AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991	26133	26133			16181	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 158	608430	chromosome 20 open reading frame 188	C20orf188	NA		Standard	NM_015638	NM_015638	NA	Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.2055C>T	20.37:g.33591414G>A		NA	E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	37	CCDS13246.1																																																																																			TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078832.2		-	ENST00000252015.2	Silent	SNP	20 : 33591414 - 33591414 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	140	42
FLT4	2324	broad.mit.edu	37	5	180038401	180038401	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180038401C>T	ENST00000261937.6	-	27	3694	c.3616G>A	c.(3616-3618)Gcc>Acc	p.A1206T	FLT4_ENST00000393347.3_Missense_Mutation_p.A1206T|FLT4_ENST00000502649.1_Missense_Mutation_p.A1206T	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1206					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	ATGTGTAGGGCCATGGTGGAC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(97;1075 1466 27033 27547 35871)							NA				0													82	84	84			NA	NA	5		NA											NA				180038401		2203	4300	6503	SO:0001583	missense			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2324	2324	2.7.10.1	Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	3767	protein-coding gene	gene with protein product		136352			NA	1319394	Standard		NM_002020	NA	Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3616G>A	5.37:g.180038401C>T	ENSP00000261937:p.Ala1206Thr	NA	Q16067|Q86W07	37	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	8.093	0.774853	0.16051	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.77229	-1.08;-1.08;-1.07	4.48	4.48	0.54585	.	.	.	.	.	T	0.54886	0.1886	N	0.08118	0	0.38878	D	0.956844	B;B	0.33549	0.286;0.417	B;B	0.29598	0.103;0.104	T	0.57087	-0.7871	9	0.22109	T	0.4	.	10.5112	0.44864	0.0:0.9099:0.0:0.0901	.	1206;1206	E9PD35;P35916	.;VGFR3_HUMAN	T	1206	ENSP00000261937:A1206T;ENSP00000377016:A1206T;ENSP00000426057:A1206T	ENSP00000261937:A1206T	A	-	1	0	FLT4	179971007	0.998000	0.40836	0.929000	0.37066	0.018000	0.09664	4.128000	0.57951	2.492000	0.84095	0.555000	0.69702	GCC	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253527.4		-	ENST00000261937.6	Missense_Mutation	SNP	5 : 180038401 - 180038401 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	871	73
SERPINA7	6906	broad.mit.edu	37	X	105280503	105280503	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:105280503C>A	ENST00000327674.4	-	1	882	c.547G>T	c.(547-549)Ggg>Tgg	p.G183W	SERPINA7_ENST00000372563.1_Missense_Mutation_p.G183W			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	183					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	ACAACTTTCCCTTTGGTTTGC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	148	155			NA	NA	X		NA											NA				105280503		2203	4300	6503	SO:0001583	missense			M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561	6906	6906		Serine (or cysteine) peptidase inhibitors	11583	protein-coding gene	gene with protein product	thyroxin-binding globulin, thyroxine-binding globulin, alpha-1 antiproteinase, antitrypsin	314200	serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	TBG	NA	24172014	Standard	NM_000354	NM_000354	NA	Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.547G>T	X.37:g.105280503C>A	ENSP00000329374:p.Gly183Trp	NA	D3DUX1	37	CCDS14518.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.396056	0.25205	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.91295	-2.82;-2.82	4.7	1.97	0.26223	Serpin domain (3);	0.000000	0.64402	D	0.000002	D	0.96445	0.8840	H	0.98005	4.125	0.37093	D	0.899548	D	0.89917	1.0	D	0.97110	1.0	D	0.95310	0.8411	10	0.87932	D	0	.	8.2327	0.31608	0.0:0.7401:0.0:0.2599	.	183	P05543	THBG_HUMAN	W	183	ENSP00000329374:G183W;ENSP00000361644:G183W	ENSP00000329374:G183W	G	-	1	0	SERPINA7	105167159	1.000000	0.71417	0.873000	0.34254	0.082000	0.17680	5.491000	0.66887	0.171000	0.19730	0.594000	0.82650	GGG	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057790.1		-	ENST00000327674.4	Missense_Mutation	SNP	X : 105280503 - 105280503 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	576	187
PPIC	5480	broad.mit.edu	37	5	122361664	122361664	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122361664C>A	ENST00000306442.4	-	4	441		c.e4-1			NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	peptidylprolyl isomerase C (cyclophilin C)	NA					protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	ATGCTCACACCTGAGACAAAA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(99;690 1502 20765 45543 49568)							NA				0													65	53	57			NA	NA	5		NA											NA				122361664		2203	4300	6503	SO:0001630	splice_region_variant			S71018	CCDS4133.1	5q23.2	2008-02-05			ENSG00000168938	ENSG00000168938	5480	5480	5.2.1.8		9256	protein-coding gene	gene with protein product		123842			NA	1383094, 8031755	Standard	NM_000943	NM_000943	NA	Approved	CYPC	uc003kth.3	P45877	OTTHUMG00000128921	ENST00000306442.4:c.326-1G>T	5.37:g.122361664C>A		NA	A4LBB5	37	CCDS4133.1	.	.	.	.	.	.	.	.	.	.	C	35	5.436279	0.96168	.	.	ENSG00000168938	ENST00000306442	.	.	.	6.02	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.403	0.74855	0.0:0.9335:0.0:0.0665	.	.	.	.	.	-1	.	.	.	-	.	.	PPIC	122389563	1.000000	0.71417	0.408000	0.26446	0.990000	0.78478	7.449000	0.80643	1.565000	0.49641	0.655000	0.94253	.	PPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250898.2	Intron	-	ENST00000306442.4	Splice_Site	SNP	5 : 122361664 - 122361664 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	152	23
FBL	2091	broad.mit.edu	37	19	40331285	40331285	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40331285G>A	ENST00000221801.3	-	2	266	c.153C>T	c.(151-153)ggC>ggT	p.G51G		NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	51	DMA/Gly-rich.				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		caccgccgccgccgcctccac	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	21	20			NA	NA	19		NA											NA				40331285		2201	4299	6500	SO:0001819	synonymous_variant			AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202	2091	2091			3599	protein-coding gene	gene with protein product		134795			NA	1846968, 2026646	Standard	NM_001436	NM_001436	NA	Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.153C>T	19.37:g.40331285G>A		NA	B5BUE8|O75259|Q6IAT5|Q9UPI6	37	CCDS12545.1																																																																																			FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462509.4		-	ENST00000221801.3	Silent	SNP	19 : 40331285 - 40331285 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	148	31
CYSLTR2	57105	broad.mit.edu	37	13	49281382	49281382	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49281382C>T	ENST00000282018.3	+	1	432	c.429C>T	c.(427-429)ccC>ccT	p.P143P		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	143					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TGGTTCACCCCTTTCGGCTTC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													206	197	200			NA	NA	13		NA											NA				49281382		2203	4300	6503	SO:0001819	synonymous_variant			AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207	57105	57105		GPCR / Class A : Leukotriene receptors	18274	protein-coding gene	gene with protein product		605666			NA	10913337, 1085123	Standard		NM_020377	NA	Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.429C>T	13.37:g.49281382C>T		NA	Q9HCQ2	37	CCDS9412.1																																																																																			CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044894.1		+	ENST00000282018.3	Silent	SNP	13 : 49281382 - 49281382 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	668	18
ITGB5	3693	broad.mit.edu	37	3	124536539	124536539	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124536539G>A	ENST00000296181.4	-	8	1353	c.1057C>T	c.(1057-1059)Cct>Tct	p.P353S		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	353	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GTTGTTCCAGGTATCAGGGCT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	76	75			NA	NA	3		NA											NA				124536539		2203	4300	6503	SO:0001583	missense			J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781	3693	3693		Integrins	6160	protein-coding gene	gene with protein product		147561			NA	2211615	Standard	NM_002213	NM_002213	NA	Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.1057C>T	3.37:g.124536539G>A	ENSP00000296181:p.Pro353Ser	NA	B0LPF8|B2RD70	37	CCDS3030.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.967283	0.92855	.	.	ENSG00000082781	ENST00000296181	D	0.97598	-4.45	5.91	5.91	0.95273	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.057286	0.64402	D	0.000001	D	0.98353	0.9453	M	0.74546	2.27	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.98908	1.0779	10	0.87932	D	0	.	20.2963	0.98556	0.0:0.0:1.0:0.0	.	353	P18084	ITB5_HUMAN	S	353	ENSP00000296181:P353S	ENSP00000296181:P353S	P	-	1	0	ITGB5	126019229	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.693000	0.98684	2.813000	0.96785	0.655000	0.94253	CCT	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355286.3		-	ENST00000296181.4	Missense_Mutation	SNP	3 : 124536539 - 124536539 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	288	44
PRAMEF11	440560	broad.mit.edu	37	1	12884845	12884845	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12884845G>A	ENST00000535591.1	-	4	1461	c.1266C>T	c.(1264-1266)ggC>ggT	p.G422G		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	422										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATGACCTGTCGCCATGGTCAG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	45	49			NA	NA	1		NA											NA				12884845		692	1590	2282	SO:0001819	synonymous_variant			AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810	440560	440560		-	14086	protein-coding gene	gene with protein product					NA		Standard	XM_496341	XM_006710645	NA	Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.1266C>T	1.37:g.12884845G>A		NA		37	CCDS53268.1																																																																																			PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding			-	ENST00000535591.1	Silent	SNP	1 : 12884845 - 12884845 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	985	193
UQCRB	7381	broad.mit.edu	37	8	97244142	97244142	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:97244142C>T	ENST00000518406.1	-	3	126	c.118G>A	c.(118-120)Gag>Aag	p.E40K	UQCRB_ENST00000287022.5_Missense_Mutation_p.E40K|UQCRB_ENST00000523920.1_Missense_Mutation_p.E40K|UQCRB_ENST00000517523.1_Missense_Mutation_p.E8K	NM_001254752.1	NP_001241681.1	P14927	QCR7_HUMAN	ubiquinol-cytochrome c reductase binding protein	40					aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial respiratory chain	ubiquinol-cytochrome-c reductase activity			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10	Breast(36;5.16e-05)					TCTTCATCCTCGTATATTGTA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	91	93			NA	NA	8		NA											NA				97244142		2203	4300	6503	SO:0001583	missense			X13585	CCDS6269.1, CCDS59107.1	8q22	2011-07-04			ENSG00000156467	ENSG00000156467	7381	7381		Mitochondrial respiratory chain complex / Complex III	12582	protein-coding gene	gene with protein product	ubiquinol-cytochrome c reductase, complex III subunit VI, cytochrome b-c1 complex subunit 7	191330		UQBP	NA	2167087, 2543413, 3056408	Standard	NM_006294	NM_006294	NA	Approved	QP-C, QCR7, UQCR6	uc022ayx.1	P14927	OTTHUMG00000164711	ENST00000518406.1:c.118G>A	8.37:g.97244142C>T	ENSP00000430494:p.Glu40Lys	NA	Q6FGD1	37	CCDS59107.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500402	0.64298	.	.	ENSG00000156467	ENST00000287022;ENST00000517523;ENST00000518406;ENST00000523920	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.4	5.4	0.78164	.	0.098626	0.64402	D	0.000002	T	0.61451	0.2348	H	0.95574	3.69	0.80722	D	1	P	0.37688	0.605	B	0.32211	0.142	T	0.73968	-0.3815	10	0.66056	D	0.02	-11.4134	17.3502	0.87321	0.0:1.0:0.0:0.0	.	40	P14927	QCR7_HUMAN	K	40;8;40;40	ENSP00000287022:E40K;ENSP00000429787:E8K;ENSP00000430494:E40K;ENSP00000430560:E40K	ENSP00000287022:E40K	E	-	1	0	UQCRB	97313318	1.000000	0.71417	0.071000	0.20095	0.185000	0.23345	7.522000	0.81844	2.534000	0.85438	0.591000	0.81541	GAG	UQCRB-007	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379868.1		-	ENST00000518406.1	Missense_Mutation	SNP	8 : 97244142 - 97244142 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	47
GOLGA3	2802	broad.mit.edu	37	12	133359027	133359027	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133359027T>C	ENST00000450791.2	-	16	3503	c.3320A>G	c.(3319-3321)aAc>aGc	p.N1107S	GOLGA3_ENST00000456883.2_Missense_Mutation_p.N1107S|GOLGA3_ENST00000204726.3_Missense_Mutation_p.N1107S			Q08378	GOGA3_HUMAN	golgin A3	1107					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	p.N1107S(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CAACTTCTTGTTTGACTCCTC	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)	upper_aerodigestive_tract(1)											165	161	162			NA	NA	12		NA											NA				133359027		2203	4300	6503	SO:0001583	missense			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615	2802	2802			4426	protein-coding gene	gene with protein product	SY2/SY10 protein, Golgi complex-associated protein of 170 kD	602581	golgi autoantigen, golgin subfamily a, 3		NA	8315394, 15829563	Standard	NM_005895	NM_001172557	NA	Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.3320A>G	12.37:g.133359027T>C	ENSP00000410378:p.Asn1107Ser	NA	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	37	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	T	15.92	2.975351	0.53720	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883	T;T;T	0.32753	1.44;1.44;1.45	6.07	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.52661	0.1748	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.995;0.998	T	0.50145	-0.8862	10	0.26408	T	0.33	.	12.2323	0.54495	0.0:0.0661:0.0:0.9339	.	1107;1107	Q08378-2;Q08378	.;GOGA3_HUMAN	S	1107	ENSP00000204726:N1107S;ENSP00000410378:N1107S;ENSP00000409303:N1107S	ENSP00000204726:N1107S	N	-	2	0	GOLGA3	131869100	1.000000	0.71417	0.841000	0.33234	0.148000	0.21650	6.113000	0.71553	1.110000	0.41699	0.533000	0.62120	AAC	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397569.2		-	ENST00000450791.2	Missense_Mutation	SNP	12 : 133359027 - 133359027 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	804	140
DUSP13	51207	broad.mit.edu	37	10	76854490	76854490	+	Missense_Mutation	SNP	G	G	T	rs148360130		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76854490G>T	ENST00000464872.1	-	3	387	c.388C>A	c.(388-390)Ctc>Atc	p.L130I	DUSP13_ENST00000478873.2_Missense_Mutation_p.L317I|DUSP13_ENST00000491677.2_Missense_Mutation_p.L310I|DUSP13_ENST00000607131.1_Missense_Mutation_p.L274I|DUSP13_ENST00000472493.2_Missense_Mutation_p.L181I|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000605915.1_Missense_Mutation_p.L203I|DUSP13_ENST00000372700.3_Missense_Mutation_p.L231I			Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	172	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					AGCTGCCGGAGGAAGCCTGAG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(174;1655 2059 12324 40663 42963)							NA				0													71	59	63			NA	NA	10		NA											NA				76854490		2203	4300	6503	SO:0001583	missense			AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393	NA	51207		Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases	19681	protein-coding gene	gene with protein product		613191			NA	10585869	Standard		XM_005269883	NA	Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000464872.1:c.388C>A	10.37:g.76854490G>T	ENSP00000434041:p.Leu130Ile	NA	Q96J67	37		.	.	.	.	.	.	.	.	.	.	G	27.7	4.858370	0.91433	.	.	ENSG00000079393	ENST00000308475;ENST00000472493;ENST00000491677;ENST00000372698;ENST00000464872;ENST00000372700	T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14	5.52	5.52	0.82312	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.72819	0.3508	L	0.52364	1.645	0.52501	D	0.999954	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.72357	-0.4318	10	0.51188	T	0.08	-4.6071	19.4454	0.94844	0.0:0.0:1.0:0.0	.	231;310;181	Q9UII6-4;F2Z2C4;Q9UII6	.;.;DUS13_HUMAN	I	181;181;310;274;130;231	ENSP00000311051:L181I;ENSP00000444580:L181I;ENSP00000436312:L310I;ENSP00000434041:L130I;ENSP00000361785:L231I	ENSP00000311051:L181I	L	-	1	0	DUSP13	76524496	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.287000	0.72671	2.586000	0.87340	0.655000	0.94253	CTC	DUSP13-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000048789.2		-	ENST00000464872.1	Missense_Mutation	SNP	10 : 76854490 - 76854490 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	227	43
GOLGB1	2804	broad.mit.edu	37	3	121386347	121386347	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121386347G>T	ENST00000393667.3	-	20	9655	c.9545C>A	c.(9544-9546)tCt>tAt	p.S3182Y	GOLGB1_ENST00000340645.5_Missense_Mutation_p.S3172Y	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	3172					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTCGGCCACAGAGAGAGCATT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	90	93			NA	NA	3		NA											NA				121386347		2203	4300	6503	SO:0001583	missense			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230	2804	2804			4429	protein-coding gene	gene with protein product	macrogolgin, golgi integral membrane protein 1	602500	golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1, golgin B1, golgi integral membrane protein		NA	7691276, 15004235	Standard	NM_004487	NM_001256486	NA	Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000393667.3:c.9545C>A	3.37:g.121386347G>T	ENSP00000377275:p.Ser3182Tyr	NA	D3DN92|Q14398	37	CCDS58847.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.937865	0.34189	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.15603	2.41;2.41	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000013	T	0.24699	0.0599	L	0.27053	0.805	0.30771	N	0.742987	D;D;P	0.60575	0.988;0.988;0.496	P;P;B	0.58331	0.837;0.837;0.261	T	0.02588	-1.1137	10	0.66056	D	0.02	.	14.1868	0.65609	0.0:0.0:1.0:0.0	.	3182;3182;3172	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	Y	3172;3182	ENSP00000341848:S3172Y;ENSP00000377275:S3182Y	ENSP00000341848:S3172Y	S	-	2	0	GOLGB1	122869037	0.029000	0.19370	0.245000	0.24217	0.249000	0.25844	0.946000	0.29069	2.740000	0.93945	0.650000	0.86243	TCT	GOLGB1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355160.1		-	ENST00000393667.3	Missense_Mutation	SNP	3 : 121386347 - 121386347 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	467	87
EPS8L2	64787	broad.mit.edu	37	11	722509	722509	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:722509T>C	ENST00000533256.1	+	14	1543	c.1168T>C	c.(1168-1170)Tcg>Ccg	p.S390P	EPS8L2_ENST00000526198.1_Missense_Mutation_p.S406P|EPS8L2_ENST00000318562.8_Missense_Mutation_p.S390P|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000530636.1_Missense_Mutation_p.S390P			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	390						cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TAAGGAGATGTCGCTGTGGGA	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	50	52			NA	NA	11		NA											NA				722509		2203	4300	6503	SO:0001583	missense			AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106	64787	64787			21296	protein-coding gene	gene with protein product		614988			NA	12620401	Standard	NM_022772	NM_022772	NA	Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.1168T>C	11.37:g.722509T>C	ENSP00000435585:p.Ser390Pro	NA	B3KSX1|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	37	CCDS31328.1	.	.	.	.	.	.	.	.	.	.	t	12.30	1.897953	0.33535	.	.	ENSG00000177106	ENST00000318562;ENST00000533256;ENST00000530636;ENST00000526198	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	2.98	-0.829	0.10796	.	1.727610	0.03872	U	0.275779	T	0.17662	0.0424	L	0.38175	1.15	0.29120	N	0.880295	B;B	0.31730	0.337;0.337	B;B	0.32289	0.143;0.143	T	0.28267	-1.0049	10	0.41790	T	0.15	-5.1488	6.6122	0.22757	0.1299:0.0:0.6541:0.216	.	406;390	B7ZKL3;Q9H6S3	.;ES8L2_HUMAN	P	390;390;390;406	ENSP00000320828:S390P;ENSP00000435585:S390P;ENSP00000436035:S390P;ENSP00000436230:S406P	ENSP00000320828:S390P	S	+	1	0	EPS8L2	712509	0.005000	0.15991	0.399000	0.26333	0.763000	0.43281	-0.021000	0.12504	-0.341000	0.08376	0.398000	0.26397	TCG	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382344.1		+	ENST00000533256.1	Missense_Mutation	SNP	11 : 722509 - 722509 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	260	43
IRS1	3667	broad.mit.edu	37	2	227660982	227660982	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:227660982G>A	ENST00000305123.5	-	1	3493	c.2473C>T	c.(2473-2475)Ctg>Ttg	p.L825L		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	NA					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CTGGGCTCCAGCCTAGCCCCG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	50	47			NA	NA	2		NA											NA				227660982		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047	3667	3667		Pleckstrin homology (PH) domain containing	6125	protein-coding gene	gene with protein product		147545			NA	1648180	Standard	NM_005544	NM_005544	NA	Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2473C>T	2.37:g.227660982G>A		NA		37	CCDS2463.1																																																																																			IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256886.3		-	ENST00000305123.5	Silent	SNP	2 : 227660982 - 227660982 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	730	51
A1CF	29974	broad.mit.edu	37	10	52595869	52595869	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:52595869C>T	ENST00000374001.2	-	5	708	c.569G>A	c.(568-570)cGa>cAa	p.R190Q	A1CF_ENST00000373997.3_Missense_Mutation_p.R190Q|A1CF_ENST00000373995.3_Missense_Mutation_p.R198Q|A1CF_ENST00000395495.1_Missense_Mutation_p.R190Q|A1CF_ENST00000282641.2_Missense_Mutation_p.R190Q|A1CF_ENST00000373993.1_Missense_Mutation_p.R190Q|A1CF_ENST00000395489.2_Missense_Mutation_p.R183Q			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	NA	RRM 2.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GGCAGCTGCTCGATGACTCTC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	101	104			NA	NA	10		NA											NA				52595869		2203	4300	6503	SO:0001583	missense			AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584	29974	29974		RNA binding motif (RRM) containing	24086	protein-coding gene	gene with protein product					NA	11815617, 11072063	Standard	NM_014576	NM_014576	NA	Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000374001.2:c.569G>A	10.37:g.52595869C>T	ENSP00000363113:p.Arg190Gln	NA	A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	37	CCDS7241.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.291523	0.80914	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489;ENST00000414883	T;T;T;T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29	6.04	6.04	0.98038	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.28034	0.0691	L	0.43598	1.365	0.80722	D	1	P;P;D;B	0.58620	0.787;0.666;0.983;0.439	B;B;P;B	0.52424	0.197;0.298;0.698;0.07	T	0.00076	-1.2119	10	0.52906	T	0.07	-6.6783	18.0887	0.89466	0.0:1.0:0.0:0.0	.	183;190;190;198	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	Q	190;190;190;198;190;190;173;183;190	ENSP00000363113:R190Q;ENSP00000363105:R190Q;ENSP00000363109:R190Q;ENSP00000363107:R198Q;ENSP00000282641:R190Q;ENSP00000378873:R190Q;ENSP00000378868:R183Q;ENSP00000397953:R190Q	ENSP00000282641:R190Q	R	-	2	0	A1CF	52265875	1.000000	0.71417	0.049000	0.19019	0.287000	0.27160	7.731000	0.84895	2.873000	0.98535	0.563000	0.77884	CGA	A1CF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048085.3		-	ENST00000374001.2	Missense_Mutation	SNP	10 : 52595869 - 52595869 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	536	36
ZFR	51663	broad.mit.edu	37	5	32387723	32387723	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32387723G>A	ENST00000265069.8	-	14	2533	c.2431C>T	c.(2431-2433)Ctg>Ttg	p.L811L		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	811	DZF.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TCTGAGCACAGCAAAACAAGG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	118	119			NA	NA	5		NA											NA				32387723		2203	4300	6503	SO:0001819	synonymous_variant			AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097	51663	51663			17277	protein-coding gene	gene with protein product		615635			NA	11574164, 24482476	Standard		NM_016107	NA	Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.2431C>T	5.37:g.32387723G>A		NA	B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	37	CCDS34139.1																																																																																			ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366586.1		-	ENST00000265069.8	Silent	SNP	5 : 32387723 - 32387723 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	390	78
CDK13	8621	broad.mit.edu	37	7	39991439	39991439	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:39991439G>T	ENST00000181839.4	+	1	1804	c.1199G>T	c.(1198-1200)aGc>aTc	p.S400I	CDK13_ENST00000340829.5_Missense_Mutation_p.S400I	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	400					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AGTCCCTACAGCCCTGTGCTC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	32	36			NA	NA	7		NA											NA				39991439		1996	3992	5988	SO:0001583	missense			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883	8621	8621		Cyclin-dependent kinases	1733	protein-coding gene	gene with protein product	cholinesterase-related cell division controller	603309	cell division cycle 2-like 5 (cholinesterase-related cell division controller)	CDC2L5	NA	1731328, 19884882	Standard	NM_003718	NM_003718	NA	Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.1199G>T	7.37:g.39991439G>T	ENSP00000181839:p.Ser400Ile	NA	Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	37	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.179393	0.38511	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.69435	-0.4;-0.4	4.8	4.8	0.61643	.	.	.	.	.	T	0.66954	0.2842	L	0.36672	1.1	0.54753	D	0.999985	P;P	0.47677	0.899;0.838	P;P	0.51355	0.667;0.466	T	0.65134	-0.6242	8	.	.	.	-1.6856	16.4026	0.83647	0.0:0.0:1.0:0.0	.	400;400	Q14004-2;Q14004	.;CDK13_HUMAN	I	400	ENSP00000181839:S400I;ENSP00000340557:S400I	.	S	+	2	0	CDK13	39957964	1.000000	0.71417	0.996000	0.52242	0.238000	0.25445	7.157000	0.77461	2.343000	0.79666	0.563000	0.77884	AGC	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250726.2		+	ENST00000181839.4	Missense_Mutation	SNP	7 : 39991439 - 39991439 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	59
RNF123	63891	broad.mit.edu	37	3	49749963	49749963	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49749963G>A	ENST00000327697.6	+	27	2692	c.2548G>A	c.(2548-2550)Gag>Aag	p.E850K	RNF123_ENST00000432042.1_Missense_Mutation_p.E704K	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	850						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GCGGACCATTGAGCACGGTGA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	107	118			NA	NA	3		NA											NA				49749963		2203	4300	6503	SO:0001583	missense			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068	63891	63891		RING-type (C3HC4) zinc fingers	21148	protein-coding gene	gene with protein product		614472			NA		Standard	NM_022064	NM_022064	NA	Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.2548G>A	3.37:g.49749963G>A	ENSP00000328287:p.Glu850Lys	NA	A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	37	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457635	0.84317	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.75704	-0.66;-0.96	5.91	5.91	0.95273	.	0.047408	0.85682	D	0.000000	T	0.80829	0.4698	L	0.38531	1.155	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.73380	0.98;0.98	T	0.75861	-0.3168	10	0.25106	T	0.35	-31.0211	19.2739	0.94023	0.0:0.0:1.0:0.0	.	704;850	C9J266;Q5XPI4	.;RN123_HUMAN	K	850;850;704	ENSP00000328287:E850K;ENSP00000392443:E704K	ENSP00000328287:E850K	E	+	1	0	RNF123	49724967	1.000000	0.71417	0.998000	0.56505	0.378000	0.30076	9.298000	0.96132	2.803000	0.96430	0.650000	0.86243	GAG	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346475.2		+	ENST00000327697.6	Missense_Mutation	SNP	3 : 49749963 - 49749963 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	327	62
ECHDC3	79746	broad.mit.edu	37	10	11805264	11805264	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11805264C>T	ENST00000379215.4	+	5	844	c.633C>T	c.(631-633)gcC>gcT	p.A211A	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	211						mitochondrion	catalytic activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						CCATTTCTGCCCAGGAGGCCC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	59	64			NA	NA	10		NA											NA				11805264		2203	4300	6503	SO:0001819	synonymous_variant			AF275677	CCDS7084.1	10p14	2010-04-30	2010-04-30		ENSG00000134463	ENSG00000134463	79746	79746			23489	protein-coding gene	gene with protein product			enoyl Coenzyme A hydratase domain containing 3		NA	12477932	Standard	NM_024693	NM_024693	NA	Approved	FLJ20909	uc001ikw.4	Q96DC8	OTTHUMG00000017675	ENST00000379215.4:c.633C>T	10.37:g.11805264C>T		NA	Q53HR9|Q5W0J7|Q8WYY8|Q9BVL8|Q9H7G4	37	CCDS7084.1																																																																																			ECHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046771.1		+	ENST00000379215.4	Silent	SNP	10 : 11805264 - 11805264 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	202	36
TP53INP2	58476	broad.mit.edu	37	20	33296666	33296666	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33296666G>A	ENST00000374810.3	+	3	512	c.123G>A	c.(121-123)ccG>ccA	p.P41P	TP53INP2_ENST00000374809.2_Splice_Site_p.P41P|NCOA6_ENST00000593786.1_Intron	NM_021202.1	NP_067025.1	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	41						nucleus				endometrium(1)|urinary_tract(1)	2						TTGACCTGCCGGGTGAGGCCT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	40	40			NA	NA	20		NA											NA				33296666		2202	4300	6502	SO:0001630	splice_region_variant			AL109824	CCDS13240.1	20q11.22	2010-01-05	2004-06-18	2004-06-18	ENSG00000078804	ENSG00000078804	58476	58476			16104	protein-coding gene	gene with protein product	diabetes and obesity regulated		chromosome 20 open reading frame 110	C20orf110	NA	12477932	Standard	NM_021202	NM_021202	NA	Approved	FLJ21759, FLJ23500, DKFZp434B2411, DKFZp434O0827, dJ1181N3.1, PINH, DOR	uc002xau.1	Q8IXH6	OTTHUMG00000032310	ENST00000374810.3:c.124+1G>A	20.37:g.33296666G>A		NA	A8K8S8|E1P5P6|Q5JX64|Q8IYL5|Q9NU00	37	CCDS13240.1																																																																																			TP53INP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078807.2	Silent	+	ENST00000374810.3	Splice_Site	SNP	20 : 33296666 - 33296666 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	243	48
SYNE1	23345	broad.mit.edu	37	6	152777048	152777048	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152777048C>A	ENST00000367255.5	-	23	3301	c.2700G>T	c.(2698-2700)caG>caT	p.Q900H	SYNE1_ENST00000423061.1_Missense_Mutation_p.Q907H|SYNE1_ENST00000367253.4_Missense_Mutation_p.Q900H|SYNE1_ENST00000495090.2_Missense_Mutation_p.Q467H|SYNE1_ENST00000341594.5_Missense_Mutation_p.D952Y|SYNE1_ENST00000367248.3_Missense_Mutation_p.Q890H|SYNE1_ENST00000413186.2_Missense_Mutation_p.Q900H|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q907H|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q900H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	900					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TATCTGCAATCTGTCTTTGTA	0.418		NA								HNSCC(10;0.0054)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	138	145			NA	NA	6		NA											NA				152777048		2203	4300	6503	SO:0001583	missense			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018	23345	23345			17089	protein-coding gene	gene with protein product	myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1	608441	chromosome 6 open reading frame 98	C6orf98	NA	9872452, 10878022	Standard	NM_182961	NM_182961	NA	Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.2700G>T	6.37:g.152777048C>A	ENSP00000356224:p.Gln900His	NA	O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	37	CCDS5236.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.25|18.25	3.581997|3.581997	0.65992|0.65992	.|.	.|.	ENSG00000131018|ENSG00000131018	ENST00000341594|ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090	T|T;T;T;T;T;T;T;T	0.48836|0.35789	0.8|1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29	5.49|5.49	3.68|3.68	0.42216|0.42216	.|.	.|0.110333	.|0.39020	.|N	.|0.001484	T|T	0.21103|0.21103	0.0508|0.0508	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|P;B;P;P;P;B;B	.|0.44195	.|0.472;0.002;0.828;0.654;0.771;0.002;0.006	.|B;B;P;B;P;B;B	.|0.47705	.|0.173;0.002;0.555;0.431;0.532;0.002;0.01	T|T	0.02966|0.02966	-1.1088|-1.1088	7|10	0.59425|0.48119	D|T	0.04|0.1	.|.	7.4634|7.4634	0.27308|0.27308	0.0:0.6963:0.1475:0.1562|0.0:0.6963:0.1475:0.1562	.|.	.|883;900;467;890;900;900;907	.|B3W695;Q8NF91;F5H422;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.|.;SYNE1_HUMAN;.;.;.;.;.	Y|H	952|900;907;900;907;900;890;900;467	ENSP00000341887:D952Y|ENSP00000356224:Q900H;ENSP00000396024:Q907H;ENSP00000265368:Q900H;ENSP00000390975:Q907H;ENSP00000356222:Q900H;ENSP00000356217:Q890H;ENSP00000414510:Q900H;ENSP00000438508:Q467H	ENSP00000341887:D952Y|ENSP00000265368:Q900H	D|Q	-|-	1|3	0|2	SYNE1|SYNE1	152818741|152818741	0.998000|0.998000	0.40836|0.40836	0.997000|0.997000	0.53966|0.53966	0.927000|0.927000	0.56198|0.56198	0.487000|0.487000	0.22356|0.22356	1.297000|1.297000	0.44761|0.44761	0.655000|0.655000	0.94253|0.94253	GAT|CAG	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334755.2		-	ENST00000367255.5	Missense_Mutation	SNP	6 : 152777048 - 152777048 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	479	43
SZT2	23334	broad.mit.edu	37	1	43912042	43912042	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43912042C>A	ENST00000562955.1	+	64	8856	c.8856C>A	c.(8854-8856)gcC>gcA	p.A2952A	SZT2_ENST00000372442.1_Silent_p.A2110A	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	3009						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AACAGTTTGCCCTGGAATGTT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	128	134			NA	NA	1		NA											NA				43912042		2203	4300	6503	SO:0001819	synonymous_variant			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198	23334	23334			29040	protein-coding gene	gene with protein product	seizure threshold 2 homolog A (mouse), seizure threshold 2 homolog B (mouse)	615463	chromosome 1 open reading frame 84, KIAA0467	C1orf84, KIAA0467	NA	9455484	Standard	NM_015284	NM_015284	NA	Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.8856C>A	1.37:g.43912042C>A		NA	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	37	CCDS30694.2																																																																																			SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019517.3		+	ENST00000562955.1	Silent	SNP	1 : 43912042 - 43912042 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	399	16
LSMEM1	286006	broad.mit.edu	37	7	112129971	112129971	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:112129971C>T	ENST00000312849.4	+	4	724	c.363C>T	c.(361-363)aaC>aaT	p.N121N	LSMEM1_ENST00000486022.1_3'UTR|LSMEM1_ENST00000439068.2_Silent_p.N121N	NM_182597.2	NP_872403.1			leucine-rich single-pass membrane protein 1	NA											NA						AGCGACTCAACCAACTCAACC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	153	157			NA	NA	7		NA											NA				112129971		2203	4300	6503	SO:0001819	synonymous_variant			AK096894	CCDS5756.1	7q31.1	2013-03-08	2013-03-08	2013-03-08	ENSG00000181016	ENSG00000181016	286006	286006			22036	protein-coding gene	gene with protein product			chromosome 7 open reading frame 53	C7orf53	NA		Standard	NM_182597	NM_182597	NA	Approved	FLJ39575	uc011kmq.2	Q8N8F7	OTTHUMG00000155190	ENST00000312849.4:c.363C>T	7.37:g.112129971C>T		NA		37	CCDS5756.1																																																																																			LSMEM1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000338716.2		+	ENST00000312849.4	Silent	SNP	7 : 112129971 - 112129971 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	764	107
RSC1A1	6248	broad.mit.edu	37	1	15986601	15986601	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15986601C>T	ENST00000345034.1	+	1	238	c.238C>T	c.(238-240)Cat>Tat	p.H80Y	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	80					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTTCTGATCATGCTTCCTC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	109	108			NA	NA	1		NA											NA				15986601		2203	4300	6503	SO:0001583	missense			BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695	6248	6248			10458	protein-coding gene	gene with protein product		601966			NA		Standard	NM_006511	NM_006511	NA	Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.238C>T	1.37:g.15986601C>T	ENSP00000341963:p.His80Tyr	NA	B2RBP5	37	CCDS161.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.386950	0.00202	.	.	ENSG00000215695	ENST00000345034	T	0.42513	0.97	5.61	-4.42	0.03579	.	0.853756	0.09821	N	0.751463	T	0.11922	0.0290	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.30060	-0.9991	10	0.02654	T	1	4.7004	2.8138	0.05450	0.1828:0.4457:0.0908:0.2807	.	80	Q92681	RSCA1_HUMAN	Y	80	ENSP00000341963:H80Y	ENSP00000341963:H80Y	H	+	1	0	RSC1A1	15859188	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	-0.782000	0.04643	-0.654000	0.05394	0.561000	0.74099	CAT	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000145500.1		+	ENST00000345034.1	Missense_Mutation	SNP	1 : 15986601 - 15986601 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	763	42
AHI1	54806	broad.mit.edu	37	6	135778797	135778797	+	Missense_Mutation	SNP	C	C	T	rs139944375	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135778797C>T	ENST00000367800.4	-	7	1202	c.986G>A	c.(985-987)cGa>cAa	p.R329Q	AHI1_ENST00000457866.2_Missense_Mutation_p.R329Q|AHI1_ENST00000327035.6_Missense_Mutation_p.R329Q	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	329						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CGGGCTATCTCGGCTTGTTAT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													170	163	166			NA	NA	6		NA											NA				135778797		1911	4114	6025	SO:0001583	missense			AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541	54806	54806		WD repeat domain containing	21575	protein-coding gene	gene with protein product	Jouberin	608894	Abelson helper integration site		NA	15060101, 16240161	Standard	NM_017651	NM_017651	NA	Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.986G>A	6.37:g.135778797C>T	ENSP00000356774:p.Arg329Gln	NA	E1P584|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	37	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.801309	0.31869	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801	T;T;T;T	0.57752	0.43;0.43;0.43;0.38	5.5	-3.68	0.04463	.	1.206670	0.05757	N	0.604317	T	0.20292	0.0488	L	0.60455	1.87	0.24048	N	0.996058	B;B	0.20261	0.043;0.026	B;B	0.12837	0.008;0.002	T	0.18335	-1.0340	10	0.32370	T	0.25	-0.1692	2.7604	0.05305	0.1077:0.226:0.1783:0.488	.	329;329	Q8N157-2;Q8N157	.;AHI1_HUMAN	Q	329	ENSP00000356774:R329Q;ENSP00000388650:R329Q;ENSP00000265602:R329Q;ENSP00000322478:R329Q	ENSP00000265602:R329Q	R	-	2	0	AHI1	135820490	0.693000	0.27728	0.826000	0.32828	0.433000	0.31745	-0.024000	0.12435	-0.422000	0.07405	0.460000	0.39030	CGA	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391948.1		-	ENST00000367800.4	Missense_Mutation	SNP	6 : 135778797 - 135778797 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	628	115
DECR1	1666	broad.mit.edu	37	8	91033242	91033242	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:91033242G>A	ENST00000522161.1	+	7	1179	c.496G>A	c.(496-498)Gtg>Atg	p.V166M	DECR1_ENST00000519007.1_3'UTR|DECR1_ENST00000220764.2_Missense_Mutation_p.V175M			Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	175					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CACAGCCTTCGTGACACTAGA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	78	77	77		523	3.8	1	8		77	0,8598		0,0,4299	no	missense	DECR1	NM_001359.1	21	0,1,6501	AA,AG,GG	NA	0.0,0.0227,0.0077	possibly-damaging	175/336	91033242	1,13003	2203	4299	6502	SO:0001583	missense			L26050	CCDS6250.1	8q21.3	2011-09-14			ENSG00000104325	ENSG00000104325	1666	1666		Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1	2753	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 18C, member 1	222745		DECR	NA	7818482, 19027726	Standard		NM_001359	NA	Approved	SDR18C1	uc003yek.1	Q16698	OTTHUMG00000163829	ENST00000522161.1:c.496G>A	8.37:g.91033242G>A	ENSP00000429779:p.Val166Met	NA	Q2M304|Q93085	37		.	.	.	.	.	.	.	.	.	.	G	13.66	2.304840	0.40795	2.27E-4	0.0	ENSG00000104325	ENST00000220764;ENST00000519410;ENST00000522161;ENST00000517761;ENST00000520227	T;D;T;D;D	0.87650	0.96;-2.28;0.96;-2.28;-2.28	5.59	3.83	0.44106	NAD(P)-binding domain (1);	0.055756	0.64402	N	0.000001	D	0.87549	0.6205	L	0.49455	1.56	0.80722	D	1	D;P	0.58620	0.983;0.697	P;B	0.53313	0.723;0.179	D	0.85099	0.0956	10	0.35671	T	0.21	.	12.5811	0.56391	0.135:0.0:0.865:0.0	.	166;175	B7Z6B8;Q16698	.;DECR_HUMAN	M	175;153;166;166;125	ENSP00000220764:V175M;ENSP00000430561:V153M;ENSP00000429779:V166M;ENSP00000427936:V166M;ENSP00000429096:V125M	ENSP00000220764:V175M	V	+	1	0	DECR1	91102418	1.000000	0.71417	0.997000	0.53966	0.235000	0.25334	4.127000	0.57944	0.748000	0.32831	-1.020000	0.02445	GTG	DECR1-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000375830.1		+	ENST00000522161.1	Missense_Mutation	SNP	8 : 91033242 - 91033242 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	319	70
WISP3	8838	broad.mit.edu	37	6	112382319	112382319	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112382319G>T	ENST00000368666.2	+	2	460	c.174G>T	c.(172-174)aaG>aaT	p.K58N	WISP3_ENST00000368663.3_Missense_Mutation_p.K36N|WISP3_ENST00000361714.1_Missense_Mutation_p.K76N|WISP3_ENST00000230529.5_Missense_Mutation_p.K58N|WISP3_ENST00000604763.1_Missense_Mutation_p.K58N	NM_198239.1	NP_937882.1	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	58	IGFBP N-terminal.				cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		CTCAGCAGAAGCCCCGTTGCC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	126	130			NA	NA	6		NA											NA				112382319		2203	4300	6503	SO:0001583	missense			AF100781	CCDS5097.1, CCDS5098.1	6q21	2014-05-06			ENSG00000112761	ENSG00000112761	8838	8838			12771	protein-coding gene	gene with protein product		603400			NA	9843955	Standard	NM_003880	NM_003880	NA	Approved	CCN6	uc003pvo.3	O95389	OTTHUMG00000185101	ENST00000368666.2:c.174G>T	6.37:g.112382319G>T	ENSP00000357655:p.Lys58Asn	NA	Q3KR29|Q5H8W4|Q6UXH6	37	CCDS5098.1	.	.	.	.	.	.	.	.	.	.	G	4.760	0.141233	0.09083	.	.	ENSG00000112761	ENST00000368666;ENST00000230529;ENST00000361714;ENST00000541400;ENST00000368663	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	4.58	3.71	0.42584	Insulin-like growth factor-binding protein, IGFBP (3);	0.860116	0.09750	N	0.760779	T	0.30293	0.0760	L	0.44542	1.39	0.18873	N	0.999986	P;B	0.37276	0.589;0.351	B;B	0.30943	0.117;0.122	T	0.24977	-1.0145	10	0.62326	D	0.03	.	5.8736	0.18816	0.2242:0.148:0.6278:0.0	.	76;58	O95389-2;O95389	.;WISP3_HUMAN	N	58;58;76;58;36	ENSP00000357655:K58N;ENSP00000230529:K58N;ENSP00000354734:K76N;ENSP00000357652:K36N	ENSP00000230529:K58N	K	+	3	2	WISP3	112489012	0.989000	0.36119	0.690000	0.30148	0.032000	0.12392	1.954000	0.40362	1.046000	0.40249	-0.253000	0.11424	AAG	WISP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041873.2		+	ENST00000368666.2	Missense_Mutation	SNP	6 : 112382319 - 112382319 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	482	87
LAMC3	10319	broad.mit.edu	37	9	133961019	133961019	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133961019C>T	ENST00000361069.4	+	25	4272	c.4139C>T	c.(4138-4140)gCg>gTg	p.A1380V	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1380	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity	p.A1380V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		ACCAAGCAGGCGGAGAGGATG	0.597		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)											100	94	96			NA	NA	9		NA											NA				133961019		2203	4300	6503	SO:0001583	missense			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555	10319	10319		Laminins	6494	protein-coding gene	gene with protein product		604349			NA	10225960	Standard	NM_006059	NM_006059	NA	Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.4139C>T	9.37:g.133961019C>T	ENSP00000354360:p.Ala1380Val	NA	B1APX9|B1APY0|Q59H72	37	CCDS6938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	14.87|14.87	2.663742|2.663742	0.47572|0.47572	.|.	.|.	ENSG00000050555|ENSG00000050555	ENST00000361069;ENST00000355048|ENST00000355452	T|.	0.38560|.	1.13|.	5.11|5.11	0.869|0.869	0.19096|0.19096	.|.	0.394550|.	0.25750|.	N|.	0.028548|.	T|T	0.52533|0.52533	0.1740|0.1740	M|M	0.74881|0.74881	2.28|2.28	0.26272|0.26272	N|N	0.978417|0.978417	B;P|.	0.41345|.	0.189;0.746|.	B;B|.	0.36504|.	0.017;0.226|.	T|T	0.46789|0.46789	-0.9166|-0.9166	10|5	0.54805|.	T|.	0.06|.	.|.	7.328|7.328	0.26566|0.26566	0.0:0.58:0.0:0.42|0.0:0.58:0.0:0.42	.|.	61;1380|.	Q9UF61;Q9Y6N6|.	.;LAMC3_HUMAN|.	V|W	1380;1392|62	ENSP00000354360:A1380V|.	ENSP00000347156:A1392V|.	A|R	+|+	2|1	0|2	LAMC3|LAMC3	132950840|132950840	0.085000|0.085000	0.21516|0.21516	0.976000|0.976000	0.42696|0.42696	0.820000|0.820000	0.46376|0.46376	0.108000|0.108000	0.15396|0.15396	-0.035000|-0.035000	0.13691|0.13691	-0.224000|-0.224000	0.12420|0.12420	GCG|CGG	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054717.3		+	ENST00000361069.4	Missense_Mutation	SNP	9 : 133961019 - 133961019 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	346	45
UBA7	7318	broad.mit.edu	37	3	49845353	49845353	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49845353C>T	ENST00000333486.3	-	21	2689	c.2531G>A	c.(2530-2532)cGa>cAa	p.R844Q		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	844					ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCCCACAATTCGCTTGCTCTG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	69	71			NA	NA	3		NA											NA				49845353		2203	4300	6503	SO:0001583	missense			BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179	7318	7318		Ubiquitin-like modifier activating enzymes	12471	protein-coding gene	gene with protein product	UBA1, ubiquitin-activating enzyme E1 homolog B (yeast), UBA7, ubiquitin-activating enzyme E1	191325	ubiquitin-activating enzyme E1-like	UBE1L	NA	8327486	Standard	NM_003335	NM_003335	NA	Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.2531G>A	3.37:g.49845353C>T	ENSP00000333266:p.Arg844Gln	NA	Q9BRB2	37	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	C	5.302	0.241135	0.10077	.	.	ENSG00000182179	ENST00000333486	T	0.38401	1.14	4.95	-3.92	0.04155	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.538297	0.19794	N	0.105901	T	0.14056	0.0340	N	0.12569	0.235	0.09310	N	1	B	0.14438	0.01	B	0.13407	0.009	T	0.10823	-1.0613	10	0.27082	T	0.32	0.055	4.8416	0.13492	0.2254:0.3499:0.0:0.4248	.	844	P41226	UBA7_HUMAN	Q	844	ENSP00000333266:R844Q	ENSP00000333266:R844Q	R	-	2	0	UBA7	49820357	0.009000	0.17119	0.003000	0.11579	0.278000	0.26855	-0.110000	0.10824	-0.715000	0.04968	-0.268000	0.10319	CGA	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350503.1		-	ENST00000333486.3	Missense_Mutation	SNP	3 : 49845353 - 49845353 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	238	47
TET1	80312	broad.mit.edu	37	10	70333489	70333489	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70333489C>A	ENST00000373644.4	+	2	1603	c.1394C>A	c.(1393-1395)gCt>gAt	p.A465D		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	465					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GTCCAGGGTGCTATACAGATT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	58	60			NA	NA	10		NA											NA				70333489		2203	4300	6503	SO:0001583	missense			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336	80312	80312			29484	protein-coding gene	gene with protein product	leukemia-associated protein with a CXXC domain, ten-eleven translocation-1	607790	CXXC zinc finger 6, tet oncogene 1	CXXC6	NA	12124344, 12646957	Standard	NM_030625	NM_030625	NA	Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.1394C>A	10.37:g.70333489C>A	ENSP00000362748:p.Ala465Asp	NA	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	37	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001149	0.54254	.	.	ENSG00000138336	ENST00000373644	T	0.09723	2.95	5.19	5.19	0.71726	.	0.477138	0.17509	N	0.171717	T	0.08626	0.0214	L	0.27053	0.805	0.34570	D	0.713337	B	0.32031	0.352	B	0.27170	0.077	T	0.14090	-1.0485	10	0.87932	D	0	.	11.5003	0.50433	0.1919:0.8081:0.0:0.0	.	465	Q8NFU7	TET1_HUMAN	D	465	ENSP00000362748:A465D	ENSP00000362748:A465D	A	+	2	0	TET1	70003495	0.946000	0.32159	0.926000	0.36857	0.973000	0.67179	1.306000	0.33505	2.421000	0.82119	0.305000	0.20034	GCT	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048354.1		+	ENST00000373644.4	Missense_Mutation	SNP	10 : 70333489 - 70333489 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	344	83
SLC6A6	6533	broad.mit.edu	37	3	14518786	14518786	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14518786G>A	ENST00000454876.2	+	11	1612	c.1283G>A	c.(1282-1284)cGg>cAg	p.R428Q	SLC6A6_ENST00000360861.3_Missense_Mutation_p.R428Q			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	428					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						GGTTATCGTCGGGAAATCTTC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													183	151	162			NA	NA	3		NA											NA				14518786		2203	4300	6503	SO:0001583	missense				CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389	6533	6533		Solute carriers	11052	protein-coding gene	gene with protein product	taurine transporter	186854	solute carrier family 6 (neurotransmitter transporter, taurine), member 6		NA	8010975, 8382624	Standard	NM_003043	XM_006713307	NA	Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.1283G>A	3.37:g.14518786G>A	ENSP00000398063:p.Arg428Gln	NA	Q9BXB0	37	CCDS33705.1	.	.	.	.	.	.	.	.	.	.	G	35	5.526231	0.96431	.	.	ENSG00000131389	ENST00000454876;ENST00000360861	D;D	0.81821	-1.54;-1.54	4.73	4.73	0.59995	.	0.110564	0.64402	D	0.000008	D	0.90442	0.7007	M	0.87547	2.89	0.80722	D	1	D	0.71674	0.998	D	0.65233	0.933	D	0.92445	0.5965	10	0.87932	D	0	.	18.0768	0.89430	0.0:0.0:1.0:0.0	.	428	P31641	SC6A6_HUMAN	Q	428	ENSP00000398063:R428Q;ENSP00000354107:R428Q	ENSP00000354107:R428Q	R	+	2	0	SLC6A6	14493790	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.779000	0.99018	2.325000	0.78763	0.491000	0.48974	CGG	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340507.1		+	ENST00000454876.2	Missense_Mutation	SNP	3 : 14518786 - 14518786 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	474	102
ZNF696	79943	broad.mit.edu	37	8	144378799	144378799	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144378799G>T	ENST00000330143.3	+	3	1363	c.954G>T	c.(952-954)gaG>gaT	p.E318D		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			ACACCGGGGAGAAGCCCCACC	0.736		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													6	8	7			NA	NA	8		NA											NA				144378799		1992	3926	5918	SO:0001583	missense			AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730	79943	79943		Zinc fingers, C2H2-type	25872	protein-coding gene	gene with protein product					NA		Standard	NM_030895	NM_030895	NA	Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.954G>T	8.37:g.144378799G>T	ENSP00000328515:p.Glu318Asp	NA	A0AVE2	37	CCDS6399.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811648	0.70797	.	.	ENSG00000185730	ENST00000330143	T	0.26810	1.71	2.97	2.07	0.26955	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22704	0.0548	L	0.46947	1.48	0.80722	D	1	P	0.35807	0.522	B	0.40199	0.322	T	0.03662	-1.1015	8	.	.	.	.	7.6192	0.28175	0.141:0.0:0.859:0.0	.	318	Q9H7X3	ZN696_HUMAN	D	318	ENSP00000328515:E318D	.	E	+	3	2	ZNF696	144450174	0.998000	0.40836	0.990000	0.47175	0.638000	0.38207	3.013000	0.49582	1.661000	0.50771	0.551000	0.68910	GAG	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381164.2		+	ENST00000330143.3	Missense_Mutation	SNP	8 : 144378799 - 144378799 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	96	16
HSPA6	3310	broad.mit.edu	37	1	161495386	161495386	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161495386G>A	ENST00000309758.4	+	1	1351	c.938G>A	c.(937-939)cGc>cAc	p.R313H	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	313					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GACCTCTTCCGCAGCACCCTG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	23	22			NA	NA	1		NA											NA				161495386		2201	4295	6496	SO:0001583	missense				CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110	3310	3310		Heat shock proteins / HSP70	5239	protein-coding gene	gene with protein product		140555	heat shock 70kD protein 6 (HSP70B')		NA	1346391	Standard	NM_002155	NM_002155	NA	Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.938G>A	1.37:g.161495386G>A	ENSP00000310219:p.Arg313His	NA	Q1HBA8|Q8IYK7|Q9BT95	37	CCDS1231.1	.	.	.	.	.	.	.	.	.	.	.	17.93	3.509864	0.64522	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.01051	5.4	3.12	3.12	0.35913	.	0.187022	0.25919	U	0.027454	T	0.04815	0.0130	M	0.90922	3.16	0.44110	D	0.99688	D	0.89917	1.0	D	0.91635	0.999	T	0.02691	-1.1123	10	0.87932	D	0	.	11.6907	0.51514	0.0:0.0:1.0:0.0	.	313	P17066	HSP76_HUMAN	H	313;289	ENSP00000310219:R313H	ENSP00000310219:R313H	R	+	2	0	HSPA6	159762010	1.000000	0.71417	0.930000	0.37139	0.643000	0.38383	5.496000	0.66918	1.544000	0.49359	0.543000	0.68304	CGC	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083308.1		+	ENST00000309758.4	Missense_Mutation	SNP	1 : 161495386 - 161495386 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	262	43
SMARCD2	6603	broad.mit.edu	37	17	61910711	61910711	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61910711C>T	ENST00000448276.2	-	11	1652	c.1387G>A	c.(1387-1389)Gac>Aac	p.D463N	SMARCD2_ENST00000323347.10_Missense_Mutation_p.D415N|SMARCD2_ENST00000225742.9_Missense_Mutation_p.D388N	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	463					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						TCCTGGGGGTCGGTGCTAAAA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	110	109			NA	NA	17		NA											NA				61910711		1977	4192	6169	SO:0001583	missense			U66618	CCDS45756.1	17q23.3	2014-07-16			ENSG00000108604	ENSG00000108604	6603	6603			11107	protein-coding gene	gene with protein product	mammalian chromatin remodeling complex BRG1-associated factor 60B, Swp73-like protein, chromatin remodeling complex BAF60B subunit, SWI/SNF complex 60 kDa subunit B	601736			NA	8804307, 9693044	Standard	NM_001098426	NM_001098426	NA	Approved	BAF60B, Rsc6p, CRACD2, PRO2451	uc010deb.1	Q92925	OTTHUMG00000179045	ENST00000448276.2:c.1387G>A	17.37:g.61910711C>T	ENSP00000392617:p.Asp463Asn	NA	A5PLL5|A6NNQ7|B4DV56|B4E1R6|Q7L2I6|Q9UHZ1	37	CCDS45756.1	.	.	.	.	.	.	.	.	.	.	.	9.034	0.987974	0.18966	.	.	ENSG00000108604	ENST00000448276;ENST00000225742;ENST00000450364;ENST00000323347	T;T	0.57752	0.38;0.44	5.44	5.44	0.79542	.	0.278299	0.45867	D	0.000327	T	0.47967	0.1474	L	0.47078	1.49	0.40283	D	0.978414	B;B;B	0.17465	0.022;0.012;0.021	B;B;B	0.13407	0.004;0.006;0.009	T	0.35943	-0.9768	10	0.32370	T	0.25	-1.9548	16.7916	0.85590	0.0:1.0:0.0:0.0	.	415;426;463	Q92925-3;B9EGA3;Q92925	.;.;SMRD2_HUMAN	N	463;405;426;415	ENSP00000392617:D463N;ENSP00000318451:D415N	ENSP00000225742:D405N	D	-	1	0	SMARCD2	59264443	0.532000	0.26346	0.983000	0.44433	0.004000	0.04260	0.995000	0.29706	2.833000	0.97629	0.650000	0.86243	GAC	SMARCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444544.1		-	ENST00000448276.2	Missense_Mutation	SNP	17 : 61910711 - 61910711 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	419	68
ZNF776	284309	broad.mit.edu	37	19	58262226	58262226	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58262226G>A	ENST00000431353.1	+	2	325	c.107G>A	c.(106-108)aGa>aAa	p.R36K	AC003006.7_ENST00000594684.1_Missense_Mutation_p.R36K|ZNF776_ENST00000317178.5_Missense_Mutation_p.R36K					zinc finger protein 776	NA										cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		GAGGCTCAGAGATGCCTTTAT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													286	220	242			NA	NA	19		NA											NA				58262226		2203	4300	6503	SO:0001583	missense			AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443	284309	284309		Zinc fingers, C2H2-type, -	26765	protein-coding gene	gene with protein product					NA		Standard	NM_173632	NM_173632	NA	Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000431353.1:c.107G>A	19.37:g.58262226G>A	ENSP00000405772:p.Arg36Lys	NA		37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.71|14.71	2.616021|2.616021	0.46631|0.46631	.|.	.|.	ENSG00000152443|ENSG00000152443	ENST00000451849|ENST00000317178;ENST00000431353	.|T;T	.|0.01685	.|4.69;4.69	1.5|1.5	1.5|1.5	0.22942|0.22942	.|Krueppel-associated box (4);	.|.	.|.	.|.	.|.	T|T	0.04363|0.04363	0.0120|0.0120	L|L	0.37561|0.37561	1.115|1.115	0.09310|0.09310	N|N	1|1	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.87578	.|0.998;0.994	T|T	0.49263|0.49263	-0.8958|-0.8958	5|9	.|0.30854	.|T	.|0.27	.|.	6.4096|6.4096	0.21684|0.21684	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|36;36	.|Q68DI1;B4DSC6	.|ZN776_HUMAN;.	N|K	19|36	.|ENSP00000321812:R36K;ENSP00000405772:R36K	.|ENSP00000321812:R36K	D|R	+|+	1|2	0|0	ZNF776|ZNF776	62954038|62954038	0.000000|0.000000	0.05858|0.05858	0.022000|0.022000	0.16811|0.16811	0.910000|0.910000	0.53928|0.53928	-0.429000|-0.429000	0.06982|0.06982	1.151000|1.151000	0.42436|0.42436	0.313000|0.313000	0.20887|0.20887	GAT|AGA	ZNF776-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000346735.1		+	ENST00000431353.1	Missense_Mutation	SNP	19 : 58262226 - 58262226 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	487	76
DNLZ	728489	broad.mit.edu	37	9	139256578	139256578	+	Nonsense_Mutation	SNP	G	G	A	rs144760803		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139256578G>A	ENST00000371739.3	-	2	287	c.283C>T	c.(283-285)Cga>Tga	p.R95*	DNLZ_ENST00000371738.3_Silent_p.G141G			Q5SXM8	DNLZ_HUMAN	DNL-type zinc finger	0							metal ion binding			central_nervous_system(1)|prostate(1)	2		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.42e-06)|Epithelial(140;3.3e-06)		GGGCCCCCTCGCCCGCCACAC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4391		0,1,2195	21	27	25		423	-3.8	0	9	dbSNP_134	25	0,8588		0,0,4294	no	coding-synonymous	DNLZ	NM_001080849.1		0,1,6489	AA,AG,GG	NA	0.0,0.0228,0.0077		141/179	139256578	1,12979	2196	4294	6490	SO:0001587	stop_gained			AL592301	CCDS35179.1	9q34.3	2013-01-10	2007-12-18	2007-12-18	ENSG00000213221	ENSG00000213221	728489	728489		Zinc fingers	33879	protein-coding gene	gene with protein product	translocase of inner mitochondrial membrane 15 homolog (yeast), HSP70 escort protein		chromosome 9 open reading frame 151	C9orf151	NA	21530495, 22162012	Standard	NM_001080849	NM_001080849	NA	Approved	RP11-413M3.2, ZIM17, bA413M3.2, TIMM15, HEP	uc004chf.2	Q5SXM8	OTTHUMG00000020931	ENST00000371739.3:c.283C>T	9.37:g.139256578G>A	ENSP00000360804:p.Arg95*	NA	B2RUX5|B9EJE1	37		.	.	.	.	.	.	.	.	.	.	G	12.69	2.014166	0.35511	2.28E-4	0.0	ENSG00000213221	ENST00000371739	.	.	.	4.15	-3.84	0.04256	.	.	.	.	.	.	.	.	.	.	.	0.23043	N	0.998385	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0189	6.9767	0.24679	0.5466:0.2312:0.2222:0.0	.	.	.	.	X	95	.	ENSP00000360804:R95X	R	-	1	2	DNLZ	138376399	0.000000	0.05858	0.000000	0.03702	0.144000	0.21451	-2.821000	0.00749	-0.993000	0.03467	0.491000	0.48974	CGA	DNLZ-002	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000055076.1		-	ENST00000371739.3	Nonsense_Mutation	SNP	9 : 139256578 - 139256578 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	249	34
MSH3	4437	broad.mit.edu	37	5	80064769	80064769	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80064769C>T	ENST00000265081.6	+	15	2280	c.2200C>T	c.(2200-2202)Cga>Tga	p.R734*		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	734					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GCAAGAAATACGAAAAATACT	0.318		NA						Mismatch excision repair (MMR)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(88;1010 1399 13793 26548 36275)							NA				0													71	72	72			NA	NA	5		NA											NA				80064769		2203	4297	6500	SO:0001587	stop_gained			U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318	4437	4437			7326	protein-coding gene	gene with protein product	Divergent upstream protein, Mismatch repair protein 1	600887	mutS (E. coli) homolog 3, mutS homolog 3 (E. coli)		NA		Standard	NM_002439	NM_002439	NA	Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.2200C>T	5.37:g.80064769C>T	ENSP00000265081:p.Arg734*	NA	A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	37	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	C	38	6.671255	0.97751	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	.	.	.	4.51	1.65	0.23941	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.0063	13.3788	0.60757	0.3993:0.6007:0.0:0.0	.	.	.	.	X	734;725	.	.	R	+	1	2	MSH3	80100525	1.000000	0.71417	0.986000	0.45419	0.764000	0.43329	2.573000	0.46007	0.077000	0.16863	-1.378000	0.01179	CGA	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369471.1		+	ENST00000265081.6	Nonsense_Mutation	SNP	5 : 80064769 - 80064769 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	272	56
FAM129B	64855	broad.mit.edu	37	9	130270429	130270429	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130270429C>T	ENST00000373312.3	-	12	1698	c.1485G>A	c.(1483-1485)gcG>gcA	p.A495A	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Silent_p.A482A	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	495							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TCTGCAGCAGCGCCTCCCGGA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	65	64			NA	NA	9		NA											NA				130270429		2203	4300	6503	SO:0001819	synonymous_variant			AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830	64855	64855			25282	protein-coding gene	gene with protein product		614045	chromosome 9 open reading frame 88	C9orf88	NA	14702039, 19362540	Standard	NM_022833	XM_005252135	NA	Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.1485G>A	9.37:g.130270429C>T		NA	Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	37	CCDS35145.1																																																																																			FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054196.1		-	ENST00000373312.3	Silent	SNP	9 : 130270429 - 130270429 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	495	68
KCNH4	23415	broad.mit.edu	37	17	40317623	40317623	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40317623A>G	ENST00000264661.3	-	11	2261	c.1929T>C	c.(1927-1929)agT>agC	p.S643S	KCNH4_ENST00000607371.1_Silent_p.S643S	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	643					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCACATCAGCACTGGTCTTTA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(117;707 1703 2300 21308 31858)							NA				0													82	71	74			NA	NA	17		NA											NA				40317623		2203	4300	6503	SO:0001819	synonymous_variant			AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558	23415	23415		Potassium channels, Voltage-gated ion channels / Potassium channels	6253	protein-coding gene	gene with protein product		604528			NA	10455180, 16382104	Standard	NM_012285	NM_012285	NA	Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1929T>C	17.37:g.40317623A>G		NA		37	CCDS11420.1																																																																																			KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449791.2		-	ENST00000264661.3	Silent	SNP	17 : 40317623 - 40317623 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	278	40
COL5A1	1289	broad.mit.edu	37	9	137671958	137671958	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137671958G>A	ENST00000371817.3	+	28	2810	c.2396G>A	c.(2395-2397)gGc>gAc	p.G799D		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	799	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGGGCCGATGGCATCCGTGGT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	99	97			NA	NA	9		NA											NA				137671958		2203	4300	6503	SO:0001583	missense			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635	1289	1289		Collagens	2209	protein-coding gene	gene with protein product	alpha 1 type V collagen	120215			NA	1572660	Standard	NM_000093	NM_001278074	NA	Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2396G>A	9.37:g.137671958G>A	ENSP00000360882:p.Gly799Asp	NA	Q15094|Q5SUX4	37	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452148	0.63290	.	.	ENSG00000130635	ENST00000371817	D	0.99619	-6.28	3.99	3.99	0.46301	.	.	.	.	.	D	0.99809	0.9917	H	0.98754	4.32	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.96523	0.9387	9	0.87932	D	0	.	15.2143	0.73250	0.0:0.0:1.0:0.0	.	799	P20908	CO5A1_HUMAN	D	799	ENSP00000360882:G799D	ENSP00000360882:G799D	G	+	2	0	COL5A1	136811779	1.000000	0.71417	1.000000	0.80357	0.359000	0.29487	8.204000	0.89741	1.933000	0.56026	0.655000	0.94253	GGC	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054954.2		+	ENST00000371817.3	Missense_Mutation	SNP	9 : 137671958 - 137671958 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	833	155
SFMBT2	57713	broad.mit.edu	37	10	7230594	7230594	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7230594C>T	ENST00000361972.4	-	16	1890	c.1800G>A	c.(1798-1800)ctG>ctA	p.L600L	SFMBT2_ENST00000397167.1_Silent_p.L600L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	600					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						ACTTGGCCTTCAGCGTCTCTT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	99	100			NA	NA	10		NA											NA				7230594		2203	4300	6503	SO:0001819	synonymous_variant			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879	57713	57713		Sterile alpha motif (SAM) domain containing	20256	protein-coding gene	gene with protein product		615392	Scm-related gene containing four mbt domains 2		NA	10997877	Standard	NM_001029880	NM_001029880	NA	Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1800G>A	10.37:g.7230594C>T		NA	A7MD09|Q9HCF5	37	CCDS31138.1																																																																																			SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046673.1		-	ENST00000361972.4	Silent	SNP	10 : 7230594 - 7230594 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	55
UBR2	23304	broad.mit.edu	37	6	42613320	42613320	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42613320C>T	ENST00000372901.1	+	21	2659	c.2401C>T	c.(2401-2403)Cct>Tct	p.P801S	UBR2_ENST00000372883.3_Missense_Mutation_p.P305S|UBR2_ENST00000372899.1_Missense_Mutation_p.P801S			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	801					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AAAGTCTTTACCTGAAGATGT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	98	99			NA	NA	6		NA											NA				42613320		2203	4300	6503	SO:0001583	missense			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048	23304	23304		Ubiquitin protein ligase E3 component n-recognins	21289	protein-coding gene	gene with protein product		609134	chromosome 6 open reading frame 133	C6orf133	NA		Standard	NM_015255	NM_015255	NA	Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372901.1:c.2401C>T	6.37:g.42613320C>T	ENSP00000361992:p.Pro801Ser	NA	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	37		.	.	.	.	.	.	.	.	.	.	C	27.1	4.796127	0.90453	.	.	ENSG00000024048	ENST00000372899;ENST00000372901;ENST00000372883	T;T;T	0.49432	0.78;0.78;0.78	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.62048	0.2396	M	0.65498	2.005	0.80722	D	1	D;P	0.89917	1.0;0.739	D;P	0.91635	0.999;0.574	T	0.53878	-0.8376	10	0.31617	T	0.26	-24.2107	19.9659	0.97266	0.0:1.0:0.0:0.0	.	801;801	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	S	801;801;305	ENSP00000361990:P801S;ENSP00000361992:P801S;ENSP00000361974:P305S	ENSP00000361974:P305S	P	+	1	0	UBR2	42721298	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.356000	0.79445	2.802000	0.96397	0.650000	0.86243	CCT	UBR2-002	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000144880.1		+	ENST00000372901.1	Missense_Mutation	SNP	6 : 42613320 - 42613320 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	419	58
HDLBP	3069	broad.mit.edu	37	2	242173318	242173318	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242173318C>T	ENST00000391975.1	-	24	3432	c.3205G>A	c.(3205-3207)Ggg>Agg	p.G1069R	HDLBP_ENST00000310931.4_Missense_Mutation_p.G1069R|HDLBP_ENST00000427183.2_Missense_Mutation_p.G1036R|HDLBP_ENST00000391976.2_Missense_Mutation_p.G1069R	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1069	KH 13.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	p.G1069W(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CCCTTTCTCCCGATAATCTTG	0.473		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)											171	155	161			NA	NA	2		NA											NA				242173318		2203	4300	6503	SO:0001583	missense				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677	3069	3069			4857	protein-coding gene	gene with protein product		142695	vigilin	VGL	NA	1318310, 8390966	Standard	NM_203346	NM_005336	NA	Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.3205G>A	2.37:g.242173318C>T	ENSP00000375836:p.Gly1069Arg	NA	Q53QU2|Q9UCY3	37	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.84|19.84	3.902790|3.902790	0.72754|0.72754	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183|ENST00000373292	D;D;D;D|.	0.88664|.	-2.41;-2.41;-2.41;-2.41|.	5.56|5.56	5.56|5.56	0.83823|0.83823	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87233|0.87233	0.6126|0.6126	M|M	0.93420|0.93420	3.415|3.415	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.90091|0.90091	0.4177|0.4177	10|5	0.87932|.	D|.	0|.	-32.9522|-32.9522	19.5308|19.5308	0.95228|0.95228	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1036;1069|.	E7EM71;Q00341|.	.;VIGLN_HUMAN|.	R|Q	1069;1069;1069;1036|877	ENSP00000375836:G1069R;ENSP00000375837:G1069R;ENSP00000312042:G1069R;ENSP00000399139:G1036R|.	ENSP00000312042:G1069R|.	G|R	-|-	1|2	0|0	HDLBP|HDLBP	241821991|241821991	1.000000|1.000000	0.71417|0.71417	0.140000|0.140000	0.22221|0.22221	0.229000|0.229000	0.25112|0.25112	7.721000|7.721000	0.84768|0.84768	2.630000|2.630000	0.89119|0.89119	0.563000|0.563000	0.77884|0.77884	GGG|CGG	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257245.5		-	ENST00000391975.1	Missense_Mutation	SNP	2 : 242173318 - 242173318 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	469	13
SCAF11	9169	broad.mit.edu	37	12	46318633	46318633	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46318633G>A	ENST00000465950.1	-	2	4048	c.2839C>T	c.(2839-2841)Ccc>Tcc	p.P947S	SCAF11_ENST00000369367.3_Missense_Mutation_p.P1262S|SCAF11_ENST00000419565.2_Missense_Mutation_p.P1262S|SCAF11_ENST00000549162.1_Missense_Mutation_p.P1070S			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1262	Arg-rich.				spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TGCATGAGGGGCACTCCTGTG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	133	145			NA	NA	12		NA											NA				46318633		2203	4300	6503	SO:0001583	missense			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218	9169	9169		RING-type (C3HC4) zinc fingers	10784	protein-coding gene	gene with protein product		603668	splicing factor, arginine/serine-rich 2, interacting protein, serine/arginine-rich splicing factor 2, interacting protein	SFRS2IP, SRSF2IP	NA	9224939, 9447963	Standard	NM_004719	NM_004719	NA	Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000465950.1:c.2839C>T	12.37:g.46318633G>A	ENSP00000449812:p.Pro947Ser	NA	A6NEU9|A6NLW5|Q8IW59	37		.	.	.	.	.	.	.	.	.	.	G	27.2	4.812946	0.90707	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000009	T	0.79793	0.4507	M	0.74881	2.28	0.54753	D	0.999986	D	0.89917	1.0	D	0.91635	0.999	T	0.79564	-0.1751	9	.	.	.	-19.8019	19.2013	0.93712	0.0:0.0:1.0:0.0	.	1262	Q99590	SCAFB_HUMAN	S	947;1262;1070;1262	ENSP00000449812:P947S;ENSP00000358374:P1262S;ENSP00000448864:P1070S;ENSP00000413036:P1262S	.	P	-	1	0	SCAF11	44604900	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	8.071000	0.89494	2.611000	0.88343	0.563000	0.77884	CCC	SCAF11-004	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000313995.2		-	ENST00000465950.1	Missense_Mutation	SNP	12 : 46318633 - 46318633 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	322	61
ZNF667	63934	broad.mit.edu	37	19	56973726	56973726	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56973726C>T	ENST00000591790.1	-	2	1442	c.14G>A	c.(13-15)cGg>cAg	p.R5Q	ZNF667_ENST00000504904.3_Missense_Mutation_p.R5Q|ZNF667_ENST00000292069.6_Missense_Mutation_p.R5Q|ZNF667_ENST00000342634.3_Missense_Mutation_p.R98Q			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GGATTTCCCCCGTGCAGAAGG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													239	196	210			NA	NA	19		NA											NA				56973726		2203	4300	6503	SO:0001583	missense				CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046	63934	63934		Zinc fingers, C2H2-type, -	28854	protein-coding gene	gene with protein product		611024			NA		Standard	NM_022103	NM_022103	NA	Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000591790.1:c.14G>A	19.37:g.56973726C>T	ENSP00000468550:p.Arg5Gln	NA	B2RMS6|B9EK36|Q6B093|Q9H807	37		.	.	.	.	.	.	.	.	.	.	C	16.08	3.020736	0.54576	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069	T;T;T	0.05447	3.44;3.49;3.49	4.21	3.17	0.36434	.	0.291293	0.18795	N	0.130960	T	0.03053	0.0090	N	0.12746	0.255	0.09310	N	1	B	0.31503	0.326	B	0.16289	0.015	T	0.45440	-0.9261	10	0.26408	T	0.33	-3.0919	8.5568	0.33487	0.0:0.8876:0.0:0.1124	.	5	Q5HYK9	ZN667_HUMAN	Q	98;5;5	ENSP00000344699:R98Q;ENSP00000439402:R5Q;ENSP00000292069:R5Q	ENSP00000292069:R5Q	R	-	2	0	ZNF667	61665538	0.010000	0.17322	0.005000	0.12908	0.116000	0.19942	0.503000	0.22610	1.087000	0.41251	0.467000	0.42956	CGG	ZNF667-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000458393.2		-	ENST00000591790.1	Missense_Mutation	SNP	19 : 56973726 - 56973726 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	881	128
AMOT	154796	broad.mit.edu	37	X	112054512	112054512	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:112054512A>G	ENST00000304758.1	-	4	1070	c.275T>C	c.(274-276)aTt>aCt	p.I92T	AMOT_ENST00000371958.1_Missense_Mutation_p.I269T|AMOT_ENST00000524145.1_Missense_Mutation_p.I501T|AMOT_ENST00000371962.1_Missense_Mutation_p.I269T|AMOT_ENST00000371959.3_Missense_Mutation_p.I501T	NM_133265.2	NP_573572.1	Q4VCS5	AMOT_HUMAN	angiomotin	501					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CATCCTCCGAATCTCGCCCTC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													249	208	222			NA	NA	X		NA											NA				112054512		2203	4300	6503	SO:0001583	missense			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016	154796	154796			17810	protein-coding gene	gene with protein product		300410			NA	11257124, 16043488, 12406577	Standard	NM_133265	NM_001113490	NA	Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000304758.1:c.275T>C	X.37:g.112054512A>G	ENSP00000305557:p.Ile92Thr	NA	Q504X5|Q9HD27|Q9UPT1	37	CCDS14563.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.262921	0.59431	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79	5.89	5.89	0.94794	.	0.105412	0.64402	D	0.000003	T	0.42245	0.1194	M	0.79123	2.44	0.50467	D	0.999876	D	0.53151	0.958	P	0.50082	0.63	T	0.46020	-0.9221	10	0.72032	D	0.01	-15.3733	14.3202	0.66482	1.0:0.0:0.0:0.0	.	501	Q4VCS5	AMOT_HUMAN	T	92;501;269;501;269	ENSP00000305557:I92T;ENSP00000361027:I501T;ENSP00000361030:I269T;ENSP00000429013:I501T;ENSP00000361026:I269T	ENSP00000305557:I92T	I	-	2	0	AMOT	111941168	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.339000	0.96797	1.980000	0.57719	0.486000	0.48141	ATT	AMOT-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057950.1		-	ENST00000304758.1	Missense_Mutation	SNP	X : 112054512 - 112054512 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	784	193
ATP9A	10079	broad.mit.edu	37	20	50235228	50235228	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50235228G>A	ENST00000338821.5	-	21	2587	c.2323C>T	c.(2323-2325)Cgc>Tgc	p.R775C	ATP9A_ENST00000311637.5_Missense_Mutation_p.R639C|ATP9A_ENST00000402822.1_Missense_Mutation_p.R654C	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	775					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			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTGCCCGTGCGCTCCTGAAGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	45	44			NA	NA	20		NA											NA				50235228		2203	4299	6502	SO:0001583	missense			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793	10079	10079		ATPases / P-type	13540	protein-coding gene	gene with protein product		609126	ATPase, Class II, type 9A		NA	9734811, 11015572	Standard	NM_006045	NM_006045	NA	Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2323C>T	20.37:g.50235228G>A	ENSP00000342481:p.Arg775Cys	NA	E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	37	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105149	0.77096	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	D;D;D	0.82433	-1.61;-1.61;-1.61	5.35	5.35	0.76521	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.87350	0.6155	L	0.56396	1.775	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.61658	0.738;0.892	D	0.88117	0.2829	10	0.72032	D	0.01	-33.5724	12.251	0.54597	0.0:0.0:0.7122:0.2878	.	654;775	O75110-2;O75110	.;ATP9A_HUMAN	C	639;775;654	ENSP00000309086:R639C;ENSP00000342481:R775C;ENSP00000385875:R654C	ENSP00000309086:R639C	R	-	1	0	ATP9A	49668635	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	3.258000	0.51507	2.493000	0.84123	0.655000	0.94253	CGC	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000106494.1		-	ENST00000338821.5	Missense_Mutation	SNP	20 : 50235228 - 50235228 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	457	89
EGFL7	51162	broad.mit.edu	37	9	139563096	139563096	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139563096C>T	ENST00000371699.1	+	4	1079	c.168C>T	c.(166-168)tgC>tgT	p.C56C	EGFL7_ENST00000406555.3_Silent_p.C56C|EGFL7_ENST00000492002.1_3'UTR|EGFL7_ENST00000371698.3_Silent_p.C56C|EGFL7_ENST00000308874.7_Silent_p.C56C			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	56	EMI.				angiogenesis|vasculogenesis		calcium ion binding			kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		TCACCACCTGCGACGGGCACC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	71	72			NA	NA	9		NA											NA				139563096		2202	4295	6497	SO:0001819	synonymous_variant			AF186111	CCDS7002.1	9q34.3	2008-02-05			ENSG00000172889	ENSG00000172889	51162	51162			20594	protein-coding gene	gene with protein product		608582			NA		Standard	NM_016215	NM_016215	NA	Approved	ZNEU1	uc004cih.3	Q9UHF1	OTTHUMG00000020938	ENST00000371699.1:c.168C>T	9.37:g.139563096C>T		NA	B3KRP0|Q5M7Y5|Q5VUD5|Q96EG0	37	CCDS7002.1																																																																																			EGFL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055094.1		+	ENST00000371699.1	Silent	SNP	9 : 139563096 - 139563096 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	918	150
C19orf35	374872	broad.mit.edu	37	19	2276371	2276371	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2276371C>T	ENST00000342063.3	-	4	823	c.730G>A	c.(730-732)Ggg>Agg	p.G244R		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	244										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				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)		CAGGGCGCCCCGGGCAGTGTG	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													8	9	9			NA	NA	19		NA											NA				2276371		2045	4060	6105	SO:0001583	missense			AK127680	CCDS12087.1	19p13.3	2012-10-26			ENSG00000188305	ENSG00000188305	374872	374872			24793	protein-coding gene	gene with protein product					NA		Standard	NM_198532	NM_198532	NA	Approved	FLJ45778	uc002lvn.2	Q6ZS72	OTTHUMG00000178460	ENST00000342063.3:c.730G>A	19.37:g.2276371C>T	ENSP00000345102:p.Gly244Arg	NA		37	CCDS12087.1	.	.	.	.	.	.	.	.	.	.	C	6.887	0.533116	0.13188	.	.	ENSG00000188305	ENST00000342063	T	0.13901	2.55	2.96	2.96	0.34315	.	.	.	.	.	T	0.06600	0.0169	N	0.14661	0.345	0.09310	N	1	P	0.36599	0.56	B	0.25140	0.058	T	0.28459	-1.0043	9	0.22706	T	0.39	.	10.6612	0.45704	0.0:1.0:0.0:0.0	.	244	Q6ZS72	CS035_HUMAN	R	244	ENSP00000345102:G244R	ENSP00000345102:G244R	G	-	1	0	C19orf35	2227371	0.000000	0.05858	0.002000	0.10522	0.094000	0.18550	-0.572000	0.05881	1.500000	0.48636	0.561000	0.74099	GGG	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442080.1		-	ENST00000342063.3	Missense_Mutation	SNP	19 : 2276371 - 2276371 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	110	20
ZNF268	10795	broad.mit.edu	37	12	133779301	133779301	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133779301C>T	ENST00000536435.2	+	6	1359	c.1029C>T	c.(1027-1029)ttC>ttT	p.F343F	ZNF268_ENST00000228289.5_Silent_p.F343F|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000537565.1_Silent_p.F182F|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	343						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CATTCAGTTTCCATTCACAGC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	34	34			NA	NA	12		NA											NA				133779301		2173	4284	6457	SO:0001819	synonymous_variant			X78926	CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1	12q24.33	2013-01-08				ENSG00000090612	10795	10795		Zinc fingers, C2H2-type, -	13061	protein-coding gene	gene with protein product		604753			NA	7865130	Standard	NM_152943	NM_003415	NA	Approved	HZF3	uc010tcf.2	Q14587	OTTHUMG00000167946	ENST00000536435.2:c.1029C>T	12.37:g.133779301C>T		NA	Q96RH4|Q9BZJ9	37	CCDS45012.1																																																																																			ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397191.2		+	ENST00000536435.2	Silent	SNP	12 : 133779301 - 133779301 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	91	14
FSHB	2488	broad.mit.edu	37	11	30255204	30255204	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30255204G>A	ENST00000417547.1	+	3	286	c.247G>A	c.(247-249)Ggc>Agc	p.G83S	FSHB_ENST00000254122.3_Missense_Mutation_p.G83S|FSHB_ENST00000533718.1_Missense_Mutation_p.G83S	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	83					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity	p.G83S(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	GAGAGTGCCCGGCTGTGCTCA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											111	93	100			NA	NA	11		NA											NA				30255204		2202	4299	6501	SO:0001583	missense				CCDS7868.1	11p13	2013-02-26				ENSG00000131808	2488	2488		Endogenous ligands	3964	protein-coding gene	gene with protein product	follitropin, beta chain, follicle-stimulating hormone beta subunit	136530			NA	2885163, 3151250	Standard	NM_000510	NM_000510	NA	Approved		uc001msm.3	P01225		ENST00000417547.1:c.247G>A	11.37:g.30255204G>A	ENSP00000416606:p.Gly83Ser	NA	A2TF08|A5JVV3|Q14D61	37	CCDS7868.1	.	.	.	.	.	.	.	.	.	.	G	35	5.424409	0.96111	.	.	ENSG00000131808	ENST00000254122;ENST00000417547;ENST00000533718	D;D;D	0.84070	-1.8;-1.8;-1.8	6.17	6.17	0.99709	Cystine knot (1);	0.000000	0.85682	D	0.000000	D	0.92906	0.7743	M	0.89414	3.03	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.92508	0.6014	10	0.59425	D	0.04	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	83	P01225	FSHB_HUMAN	S	83	ENSP00000254122:G83S;ENSP00000416606:G83S;ENSP00000433424:G83S	ENSP00000254122:G83S	G	+	1	0	FSHB	30211780	1.000000	0.71417	0.995000	0.50966	0.945000	0.59286	6.947000	0.75959	2.941000	0.99782	0.655000	0.94253	GGC	FSHB-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389757.1		+	ENST00000417547.1	Missense_Mutation	SNP	11 : 30255204 - 30255204 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	303	60
ABLIM2	84448	broad.mit.edu	37	4	8062713	8062713	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8062713G>A	ENST00000361737.5	-	7	865	c.744C>T	c.(742-744)ggC>ggT	p.G248G	ABLIM2_ENST00000341937.5_Silent_p.G248G|ABLIM2_ENST00000318888.4_Silent_p.G5G|ABLIM2_ENST00000546334.1_Silent_p.G248G|ABLIM2_ENST00000514025.1_Silent_p.G5G|ABLIM2_ENST00000407564.3_Silent_p.G248G|ABLIM2_ENST00000545242.1_Silent_p.G248G|ABLIM2_ENST00000505872.1_Silent_p.G248G|ABLIM2_ENST00000296372.8_Silent_p.G248G|ABLIM2_ENST00000428004.2_Silent_p.G248G|ABLIM2_ENST00000361581.5_Silent_p.G248G|ABLIM2_ENST00000447017.2_Silent_p.G248G	NM_001130087.1	NP_001123559.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	248	LIM zinc-binding 4.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						ACATCTCTTCGCCTTCTGCAA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	56	56			NA	NA	4		NA											NA				8062713		2071	4208	6279	SO:0001819	synonymous_variant			AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995	84448	84448			19195	protein-coding gene	gene with protein product		612544	actin binding LIM protein 2		NA		Standard	NM_001130083	NM_001130083	NA	Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000361737.5:c.744C>T	4.37:g.8062713G>A		NA	Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	37	CCDS47015.1																																																																																			ABLIM2-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363009.1		-	ENST00000361737.5	Silent	SNP	4 : 8062713 - 8062713 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	52	7
OR6T1	219874	broad.mit.edu	37	11	123813879	123813879	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123813879C>T	ENST00000321252.2	-	1	701	c.667G>A	c.(667-669)Gcc>Acc	p.A223T		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A223S(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AGAACAGTGGCAAGAATGCAG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											86	81	83			NA	NA	11		NA											NA				123813879		2202	4299	6501	SO:0001583	missense			AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499	219874	219874		GPCR / Class A : Olfactory receptors	14848	protein-coding gene	gene with protein product					NA		Standard	NM_001005187	NM_001005187	NA	Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.667G>A	11.37:g.123813879C>T	ENSP00000325203:p.Ala223Thr	NA	Q6IFE7	37	CCDS31700.1	.	.	.	.	.	.	.	.	.	.	C	5.029	0.190997	0.09547	.	.	ENSG00000181499	ENST00000321252	T	0.37411	1.2	3.7	0.481	0.16809	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.17577	0.0422	N	0.12746	0.255	0.09310	N	1	B	0.10296	0.003	B	0.16722	0.016	T	0.23404	-1.0189	9	0.59425	D	0.04	-13.4277	1.7649	0.03000	0.3642:0.3464:0.1786:0.1108	.	223	Q8NGN1	OR6T1_HUMAN	T	223	ENSP00000325203:A223T	ENSP00000325203:A223T	A	-	1	0	OR6T1	123319089	0.000000	0.05858	0.039000	0.18376	0.603000	0.37013	-3.221000	0.00552	-0.097000	0.12307	0.563000	0.77884	GCC	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387264.1		-	ENST00000321252.2	Missense_Mutation	SNP	11 : 123813879 - 123813879 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	43
BAZ2B	29994	broad.mit.edu	37	2	160289445	160289445	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160289445C>T	ENST00000392783.2	-	9	2218	c.1723G>A	c.(1723-1725)Gta>Ata	p.V575I	BAZ2B_ENST00000343439.5_Missense_Mutation_p.V573I|BAZ2B_ENST00000355831.2_Missense_Mutation_p.V575I|BAZ2B_ENST00000392782.1_Missense_Mutation_p.V573I	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	575					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TGTGTTTTTACTGGGTTTACA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													212	200	204			NA	NA	2		NA											NA				160289445		1928	4136	6064	SO:0001583	missense			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636	29994	29994		Zinc fingers, PHD-type	963	protein-coding gene	gene with protein product		605683			NA	10662543	Standard		XM_005246488	NA	Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.1723G>A	2.37:g.160289445C>T	ENSP00000376534:p.Val575Ile	NA	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	37	CCDS2209.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	10.30|10.30|10.30	1.313359|1.313359|1.313359	0.23908|0.23908|0.23908	.|.|.	.|.|.	ENSG00000123636|ENSG00000123636|ENSG00000123636	ENST00000546335|ENST00000441143|ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	.|.|T;T;T;D	.|.|0.85411	.|.|0.85;0.85;0.85;-1.98	5.92|5.92|5.92	3.05|3.05|3.05	0.35203|0.35203|0.35203	.|.|.	.|.|0.605656	.|.|0.12140	.|.|U	.|.|0.495959	.|T|T	.|0.75466|0.75466	.|0.3853|0.3853	N|N|N	0.16478|0.16478|0.16478	0.41|0.41|0.41	0.09310|0.09310|0.09310	N|N|N	0.999999|0.999999|0.999999	.|.|P;B;B;B;B	.|.|0.46859	.|.|0.885;0.0;0.0;0.0;0.0	.|.|P;B;B;B;B	.|.|0.47981	.|.|0.563;0.002;0.002;0.003;0.001	.|T|T	.|0.61879|0.61879	.|-0.6972|-0.6972	.|5|10	.|.|0.20046	.|.|T	.|.|0.44	.|-1.6543|-1.6543	5.3963|5.3963|5.3963	0.16271|0.16271|0.16271	0.1496:0.5351:0.2449:0.0703|0.1496:0.5351:0.2449:0.0703|0.1496:0.5351:0.2449:0.0703	.|.|.	.|.|575;379;573;573;575	.|.|Q9UIF8-3;Q9UIF8-4;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.|.|.;.;.;.;BAZ2B_HUMAN	.|N|I	-1|6|573;575;575;573	.|.|ENSP00000376533:V573I;ENSP00000376534:V575I;ENSP00000348087:V575I;ENSP00000339670:V573I	.|.|ENSP00000339670:V573I	.|S|V	-|-|-	.|2|1	.|0|0	BAZ2B|BAZ2B|BAZ2B	159997691|159997691|159997691	0.850000|0.850000|0.850000	0.29656|0.29656|0.29656	0.004000|0.004000|0.004000	0.12327|0.12327|0.12327	0.532000|0.532000|0.532000	0.34746|0.34746|0.34746	1.138000|1.138000|1.138000	0.31491|0.31491|0.31491	0.347000|0.347000|0.347000	0.23924|0.23924|0.23924	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	.|AGT|GTA	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255037.2		-	ENST00000392783.2	Missense_Mutation	SNP	2 : 160289445 - 160289445 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	775	199
L3MBTL1	26013	broad.mit.edu	37	20	42163582	42163582	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42163582G>A	ENST00000373135.3	+	13	1687	c.1555G>A	c.(1555-1557)Gga>Aga	p.G519R	L3MBTL1_ENST00000427442.2_Splice_Site_p.G587R|L3MBTL1_ENST00000418998.1_Splice_Site_p.G587R|L3MBTL1_ENST00000373134.1_Splice_Site_p.G519R|L3MBTL1_ENST00000444063.1_Splice_Site_p.G519R	NM_015478.6	NP_056293.4	Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	519					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GCCTCCTCTCGGTGTGTACCC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	59	63			NA	NA	20		NA											NA				42163582		2203	4300	6503	SO:0001630	splice_region_variant			U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513	26013	26013		Zinc fingers, C2HC-type containing, Sterile alpha motif (SAM) domain containing	15905	protein-coding gene	gene with protein product	lethal (3) malignant brain tumor l(3)	608802	l(3)mbt (Drosophila)-like, l(3)mbt-like (Drosophila)	L3MBTL	NA	10445843, 17540172	Standard	NM_032107	NM_032107	NA	Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000373135.3:c.1555+1G>A	20.37:g.42163582G>A		NA	B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	37	CCDS13319.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.850488	0.32699	.	.	ENSG00000185513	ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134;ENST00000422861;ENST00000373133	T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24	5.85	3.75	0.43078	.	0.199679	0.41097	N	0.000959	T	0.23289	0.0563	L	0.35487	1.065	0.80722	D	1	B;B;B;B	0.11235	0.001;0.004;0.003;0.002	B;B;B;B	0.12156	0.001;0.007;0.001;0.001	T	0.04635	-1.0937	10	0.08381	T	0.77	.	10.0898	0.42441	0.2371:0.6539:0.1089:0.0	.	587;171;519;519	Q9Y468-5;Q9Y468-3;Q9Y468-2;Q9Y468-1	.;.;.;.	R	587;587;519;519;519;305;171	ENSP00000402107:G587R;ENSP00000398516:G587R;ENSP00000362227:G519R;ENSP00000403316:G519R;ENSP00000362226:G519R;ENSP00000410139:G305R	ENSP00000362225:G171R	G	+	1	0	L3MBTL1	41596996	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	0.903000	0.28475	1.488000	0.48433	-0.128000	0.14901	GGA	L3MBTL1-005	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079298.2	Missense_Mutation	+	ENST00000373135.3	Splice_Site	SNP	20 : 42163582 - 42163582 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	126	23
PHEX	5251	broad.mit.edu	37	X	22129647	22129647	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:22129647G>A	ENST00000379374.4	+	10	1707	c.1142G>A	c.(1141-1143)cGc>cAc	p.R381H	PHEX_ENST00000537599.1_Missense_Mutation_p.R381H|PHEX_ENST00000535894.1_Missense_Mutation_p.R284H|PHEX_ENST00000418858.3_Missense_Mutation_p.R84H	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	381					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CTTAGCAGGCGCTTTCAGTAT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	144	146			NA	NA	X		NA											NA				22129647		2203	4300	6503	SO:0001583	missense			U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174	5251	5251			8918	protein-coding gene	gene with protein product		300550	phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)	HYP, HPDR	NA	7550339, 9070861	Standard	NM_000444	NM_000444	NA	Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.1142G>A	X.37:g.22129647G>A	ENSP00000368682:p.Arg381His	NA	O00678|Q13646|Q2M325|Q93032|Q99827	37	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838748	0.91117	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894;ENST00000418858	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	5.58	5.58	0.84498	Peptidase M13 (1);	0.000000	0.85682	D	0.000000	D	0.91676	0.7369	M	0.84219	2.685	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.71414	0.953;0.973	D	0.92463	0.5979	10	0.62326	D	0.03	.	18.2521	0.90007	0.0:0.0:1.0:0.0	.	381;381	F5GXU4;P78562	.;PHEX_HUMAN	H	381;381;284;84	ENSP00000368682:R381H;ENSP00000440362:R381H;ENSP00000439418:R284H;ENSP00000443531:R84H	ENSP00000368682:R381H	R	+	2	0	PHEX	22039568	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.944000	0.87722	2.349000	0.79799	0.600000	0.82982	CGC	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056035.1		+	ENST00000379374.4	Missense_Mutation	SNP	X : 22129647 - 22129647 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	606	203
ZNF260	339324	broad.mit.edu	37	19	37005586	37005586	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37005586G>T	ENST00000523638.1	-	3	1676	c.555C>A	c.(553-555)atC>atA	p.I185I	ZNF260_ENST00000588993.1_Silent_p.I185I|ZNF260_ENST00000592282.1_Silent_p.I185I|ZNF260_ENST00000593142.1_Silent_p.I185I	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	185					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					TTCCAGTATGGATGTTCTGAT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	171	170			NA	NA	19		NA											NA				37005586		2203	4300	6503	SO:0001819	synonymous_variant			AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004	339324	339324		Zinc fingers, C2H2-type	13499	protein-coding gene	gene with protein product		613749			NA		Standard	NM_001012756	NM_001166036	NA	Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.555C>A	19.37:g.37005586G>T		NA	Q0VF43	37	CCDS33003.1																																																																																			ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109564.2		-	ENST00000523638.1	Silent	SNP	19 : 37005586 - 37005586 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	820	28
IGF1R	3480	broad.mit.edu	37	15	99472828	99472828	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99472828G>A	ENST00000558762.1	+	14	3359	c.2821G>A	c.(2821-2823)Gtc>Atc	p.V941I	IGF1R_ENST00000268035.6_Missense_Mutation_p.V942I			P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	942					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CGCTCTGCCCGTCGCTGTCCT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													219	192	201			NA	NA	15		NA											NA				99472828		2197	4297	6494	SO:0001583	missense			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443	3480	3480		CD molecules, Fibronectin type III domain containing	5465	protein-coding gene	gene with protein product		147370			NA	1316909	Standard	NM_000875	XM_006720486	NA	Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000558762.1:c.2821G>A	15.37:g.99472828G>A	ENSP00000453007:p.Val941Ile	NA	B1B5Y2|Q14CV2|Q9UCC0	37		.	.	.	.	.	.	.	.	.	.	G	3.276	-0.148150	0.06627	.	.	ENSG00000140443	ENST00000268035	T	0.75821	-0.97	5.67	-1.99	0.07457	.	0.616206	0.14059	N	0.344184	T	0.37489	0.1005	N	0.02181	-0.65	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.38067	-0.9678	10	0.07175	T	0.84	.	6.0157	0.19601	0.6509:0.0:0.1983:0.1508	.	941;942	C9J5X1;P08069	.;IGF1R_HUMAN	I	942	ENSP00000268035:V942I	ENSP00000268035:V942I	V	+	1	0	IGF1R	97290351	0.659000	0.27411	0.000000	0.03702	0.880000	0.50808	1.193000	0.32162	-0.209000	0.10156	-0.137000	0.14449	GTC	IGF1R-002	NOVEL	NAGNAG_splice_site|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000415271.1		+	ENST00000558762.1	Missense_Mutation	SNP	15 : 99472828 - 99472828 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	569	45
SIPA1L2	57568	broad.mit.edu	37	1	232650124	232650124	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232650124C>T	ENST00000366630.1	-	2	1320	c.962G>A	c.(961-963)cGc>cAc	p.R321H	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R321H			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	321					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ATTCCAAGGGCGAATGCCCCT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG	1,3907		0,1,1953	57	59	58		962	4.5	1	1		58	0,8304		0,0,4152	no	missense	SIPA1L2	NM_020808.3	29	0,1,6105	TT,TC,CC	NA	0.0,0.0256,0.0082	probably-damaging	321/1723	232650124	1,12211	1954	4152	6106	SO:0001583	missense			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991	57568	57568			23800	protein-coding gene	gene with protein product		611609			NA		Standard	XM_045839	NM_020808	NA	Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.962G>A	1.37:g.232650124C>T	ENSP00000355589:p.Arg321His	NA	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	37	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.571675	0.45798	2.56E-4	0.0	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.82433	-1.61;-1.61	5.39	4.49	0.54785	.	0.063541	0.64402	D	0.000003	T	0.78168	0.4241	L	0.59436	1.845	0.45899	D	0.998748	B	0.26547	0.152	B	0.23419	0.046	T	0.76570	-0.2911	10	0.62326	D	0.03	-25.2195	8.5231	0.33289	0.0:0.7729:0.0:0.2271	.	321	Q9P2F8	SI1L2_HUMAN	H	321	ENSP00000355589:R321H;ENSP00000262861:R321H	ENSP00000262861:R321H	R	-	2	0	SIPA1L2	230716747	1.000000	0.71417	0.995000	0.50966	0.971000	0.66376	0.907000	0.28531	1.517000	0.48917	0.650000	0.86243	CGC	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092318.1		-	ENST00000366630.1	Missense_Mutation	SNP	1 : 232650124 - 232650124 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	445	78
FGF12	2257	broad.mit.edu	37	3	191888348	191888348	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:191888348C>T	ENST00000445105.2	-	5	571	c.326G>A	c.(325-327)cGa>cAa	p.R109Q	FGF12_ENST00000454309.2_Missense_Mutation_p.R171Q|FGF12_ENST00000450716.1_Missense_Mutation_p.R109Q|FGF12_ENST00000264730.3_Missense_Mutation_p.R109Q|FGF12_ENST00000430714.1_Missense_Mutation_p.R72Q	NM_004113.5	NP_004104.3	P61328	FGF12_HUMAN	fibroblast growth factor 12	NA					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		AAACCAAGCTCGGCCTGATTC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													212	216	214			NA	NA	3		NA											NA				191888348		2203	4300	6503	SO:0001583	missense			U66197	CCDS3301.1, CCDS46983.1	3q28	2008-07-18			ENSG00000114279	ENSG00000114279	2257	2257			3668	protein-coding gene	gene with protein product	fibroblast growth factor 12B, fibroblast growth factor homologous factor 1, myocyte-activating factor, fibroblast growth factor FGF-12b	601513		FGF12B	NA	8790420, 9345906	Standard	NM_021032	NM_021032	NA	Approved	FHF1	uc003fsx.3	P61328	OTTHUMG00000156132	ENST00000445105.2:c.326G>A	3.37:g.191888348C>T	ENSP00000393686:p.Arg109Gln	NA	B2R6B7|B2R976|O35339|P70376|Q8TBG5|Q92912|Q93001	37	CCDS46983.1	.	.	.	.	.	.	.	.	.	.	C	33	5.276014	0.95459	.	.	ENSG00000114279	ENST00000264730;ENST00000392454;ENST00000445105;ENST00000454309;ENST00000440901;ENST00000450716;ENST00000430714;ENST00000448795	D;D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	6.07	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.91643	0.7359	M	0.84773	2.715	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92922	0.6356	10	0.87932	D	0	.	14.6881	0.69065	0.0:0.9307:0.0:0.0693	.	109;171	P61328-2;P61328	.;FGF12_HUMAN	Q	109;109;109;171;66;109;72;85	ENSP00000264730:R109Q;ENSP00000393686:R109Q;ENSP00000413496:R171Q;ENSP00000400948:R66Q;ENSP00000397635:R109Q;ENSP00000410125:R72Q;ENSP00000412904:R85Q	ENSP00000264730:R109Q	R	-	2	0	FGF12	193371042	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.437000	0.80417	1.578000	0.49821	0.655000	0.94253	CGA	FGF12-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343100.3		-	ENST00000445105.2	Missense_Mutation	SNP	3 : 191888348 - 191888348 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1335	273
FAM83C	128876	broad.mit.edu	37	20	33874450	33874450	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33874450C>A	ENST00000374408.3	-	4	2228	c.2132G>T	c.(2131-2133)aGt>aTt	p.S711I		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	711										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GACCAGGTCACTGTTACCACC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	106	108			NA	NA	20		NA											NA				33874450		2203	4300	6503	SO:0001583	missense			AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998	128876	128876			16121	protein-coding gene	gene with protein product			chromosome 20 open reading frame 128	C20orf128	NA		Standard		NM_178468	NA	Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.2132G>T	20.37:g.33874450C>A	ENSP00000363529:p.Ser711Ile	NA	Q14D67|Q5JWN6|Q8N276	37	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	C	4.213	0.038302	0.08148	.	.	ENSG00000125998	ENST00000374408	T	0.07567	3.18	4.43	0.193	0.15139	.	1.521730	0.03597	N	0.232847	T	0.06005	0.0156	N	0.14661	0.345	0.09310	N	1	B	0.28512	0.214	B	0.28784	0.094	T	0.38950	-0.9637	10	0.87932	D	0	-10.6538	4.8603	0.13581	0.0:0.2742:0.1535:0.5723	.	711	Q9BQN1	FA83C_HUMAN	I	711	ENSP00000363529:S711I	ENSP00000363529:S711I	S	-	2	0	FAM83C	33337864	0.299000	0.24426	0.943000	0.38184	0.006000	0.05464	0.540000	0.23191	0.285000	0.22329	-0.672000	0.03802	AGT	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078854.3		-	ENST00000374408.3	Missense_Mutation	SNP	20 : 33874450 - 33874450 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	550	110
TMEM194A	23306	broad.mit.edu	37	12	57453749	57453749	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57453749C>A	ENST00000300128.4	-	9	1271	c.1248G>T	c.(1246-1248)caG>caT	p.Q416H	TMEM194A_ENST00000379391.3_Missense_Mutation_p.Q343H	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	416						integral to membrane				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AGATTTCATCCTGGGCAATAA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	102	109			NA	NA	12		NA											NA				57453749		2203	4300	6503	SO:0001583	missense			AB006624	CCDS31841.1, CCDS44927.1	12q13.3	2008-06-10	2008-06-10	2008-06-10		ENSG00000166881	23306	23306			29001	protein-coding gene	gene with protein product			transmembrane protein 194	TMEM194	NA		Standard	NM_015257	NM_015257	NA	Approved	KIAA0286	uc001smy.3	O14524		ENST00000300128.4:c.1248G>T	12.37:g.57453749C>A	ENSP00000300128:p.Gln416His	NA	Q17R72|Q68DH0|Q6IQ25	37	CCDS44927.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.576794	0.86645	.	.	ENSG00000166881	ENST00000379391;ENST00000300128	T;T	0.45276	0.91;0.9	5.61	3.78	0.43462	.	0.050665	0.85682	D	0.000000	T	0.39200	0.1069	L	0.51422	1.61	0.33505	D	0.590422	P;P	0.44195	0.736;0.828	B;P	0.45138	0.28;0.471	T	0.56998	-0.7886	10	0.87932	D	0	-4.3227	6.9108	0.24335	0.0:0.7363:0.0:0.2637	.	416;343	O14524;O14524-2	T194A_HUMAN;.	H	343;416	ENSP00000368701:Q343H;ENSP00000300128:Q416H	ENSP00000300128:Q416H	Q	-	3	2	TMEM194A	55740016	1.000000	0.71417	0.948000	0.38648	0.997000	0.91878	1.595000	0.36708	1.364000	0.46038	0.561000	0.74099	CAG	TMEM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411272.1		-	ENST00000300128.4	Missense_Mutation	SNP	12 : 57453749 - 57453749 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	209	51
HTR4	3360	broad.mit.edu	37	5	147929756	147929756	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147929756C>A	ENST00000360693.3	-	3	234	c.96G>T	c.(94-96)atG>atT	p.M32I	HTR4_ENST00000519495.1_5'UTR|HTR4_ENST00000521735.1_Missense_Mutation_p.M32I|HTR4_ENST00000521530.1_Missense_Mutation_p.M32I|HTR4_ENST00000517929.1_Missense_Mutation_p.M32I|HTR4_ENST00000354217.2_Missense_Mutation_p.M32I|HTR4_ENST00000362016.2_Missense_Mutation_p.M32I|HTR4_ENST00000377888.3_Missense_Mutation_p.M32I|HTR4_ENST00000520514.1_Missense_Mutation_p.M32I|HTR4_ENST00000314512.6_Missense_Mutation_p.M32I	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	32					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	CCAAGATGGCCATCAGGATAA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(120;370 1604 14007 17804 41573)							NA				0													143	102	116			NA	NA	5		NA											NA				147929756		2203	4300	6503	SO:0001583	missense			Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270	3360	3360		5-HT (serotonin) receptors, GPCR / Class A : 5-HT (serotonin) receptors, GPCR only	5299	protein-coding gene	gene with protein product		602164	5-hydroxytryptamine (serotonin) receptor 4		NA	9371406, 9276448	Standard	NM_000870	NM_199453	NA	Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000360693.3:c.96G>T	5.37:g.147929756C>A	ENSP00000353915:p.Met32Ile	NA	Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	37	CCDS34272.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131491	0.77549	.	.	ENSG00000164270	ENST00000521530;ENST00000354217;ENST00000314512;ENST00000521735;ENST00000517929;ENST00000520514;ENST00000377888;ENST00000360693;ENST00000362016	T;T;T;T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.14313	0.0346	N	0.24115	0.695	0.52099	D	0.999943	P;B;P;B;P;P;P	0.44690	0.754;0.434;0.459;0.42;0.841;0.749;0.754	B;B;B;B;B;B;B	0.40825	0.184;0.13;0.269;0.312;0.228;0.341;0.184	T	0.05146	-1.0903	10	0.28530	T	0.3	.	17.7437	0.88414	0.0:1.0:0.0:0.0	.	32;32;32;32;32;32;32	C4WYH4;Q13639;Q712M9;Q13639-6;Q13639-3;Q13639-2;Q684M0	.;5HT4R_HUMAN;.;.;.;.;.	I	32	ENSP00000428320:M32I;ENSP00000346156:M32I;ENSP00000314906:M32I;ENSP00000430979:M32I;ENSP00000435904:M32I;ENSP00000427913:M32I;ENSP00000367120:M32I;ENSP00000353915:M32I;ENSP00000355037:M32I	ENSP00000314906:M32I	M	-	3	0	HTR4	147909949	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.888000	0.69758	2.538000	0.85594	0.555000	0.69702	ATG	HTR4-008	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374173.2		-	ENST00000360693.3	Missense_Mutation	SNP	5 : 147929756 - 147929756 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	325	63
ZNF419	79744	broad.mit.edu	37	19	58004803	58004803	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58004803G>A	ENST00000424930.2	+	5	1110	c.881G>A	c.(880-882)gGa>gAa	p.G294E	ZNF419_ENST00000442920.2_Missense_Mutation_p.G280E|ZNF419_ENST00000426954.2_Missense_Mutation_p.G281E|ZNF419_ENST00000415379.2_Missense_Mutation_p.G247E|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000354197.4_Missense_Mutation_p.G281E|ZNF419_ENST00000221735.7_Missense_Mutation_p.G293E|ZNF419_ENST00000347466.6_Missense_Mutation_p.G261E	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN	zinc finger protein 419	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		AGTGAATGTGGAAAAGCTTTC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	90	90			NA	NA	19		NA											NA				58004803		2203	4298	6501	SO:0001583	missense			AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136	79744	79744		Zinc fingers, C2H2-type, -	20648	protein-coding gene	gene with protein product			zinc finger protein 419A	ZNF419A	NA		Standard	NM_024691	NM_001098492	NA	Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000424930.2:c.881G>A	19.37:g.58004803G>A	ENSP00000388864:p.Gly294Glu	NA	Q9H5P0	37	CCDS54325.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.947702	0.53186	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000354197;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;3.22;2.01;2.01	2.43	1.37	0.22104	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34193	0.0889	L	0.45470	1.425	0.34922	D	0.748533	D;D;D;D;D;D;D	0.89917	0.995;1.0;1.0;1.0;0.995;1.0;0.995	P;D;D;D;P;D;P	0.97110	0.665;0.999;1.0;0.999;0.833;0.999;0.833	T	0.46735	-0.9170	9	0.62326	D	0.03	.	8.495	0.33123	0.1393:0.0:0.8607:0.0	.	247;247;280;281;294;261;293	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	E	268;294;281;281;280;294;261;247;293	ENSP00000388864:G294E;ENSP00000390916:G281E;ENSP00000346136:G281E;ENSP00000414709:G280E;ENSP00000299860:G261E;ENSP00000392129:G247E;ENSP00000221735:G293E	ENSP00000221735:G293E	G	+	2	0	ZNF419	62696615	0.998000	0.40836	0.437000	0.26809	0.921000	0.55340	2.382000	0.44345	1.340000	0.45581	0.205000	0.17691	GGA	ZNF419-004	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378502.2		+	ENST00000424930.2	Missense_Mutation	SNP	19 : 58004803 - 58004803 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	538	97
PDS5B	23047	broad.mit.edu	37	13	33281111	33281111	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:33281111G>T	ENST00000315596.10	+	18	2083	c.1897G>T	c.(1897-1899)Gca>Tca	p.A633S		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	633					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AGATGGAACAGCAGATGATGA	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	102	102			NA	NA	13		NA											NA				33281111		1882	4109	5991	SO:0001583	missense			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642	23047	23047			20418	protein-coding gene	gene with protein product		605333	androgen-induced proliferation inhibitor	APRIN	NA	8812419, 10215036	Standard	NM_015032	NM_015032	NA	Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.1897G>T	13.37:g.33281111G>T	ENSP00000313851:p.Ala633Ser	NA	Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	37	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.028669	0.54790	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	T	0.70749	-0.51	5.91	5.91	0.95273	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58192	0.2105	N	0.20530	0.585	0.80722	D	1	B	0.19331	0.035	B	0.20184	0.028	T	0.54153	-0.8336	10	0.10902	T	0.67	-0.2668	20.3011	0.98612	0.0:0.0:1.0:0.0	.	633	Q9NTI5	PDS5B_HUMAN	S	633	ENSP00000313851:A633S	ENSP00000313851:A633S	A	+	1	0	PDS5B	32179111	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.700000	0.98707	2.804000	0.96469	0.650000	0.86243	GCA	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044428.3		+	ENST00000315596.10	Missense_Mutation	SNP	13 : 33281111 - 33281111 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	257	27
UBR5	51366	broad.mit.edu	37	8	103266610	103266610	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103266610C>T	ENST00000521922.1	-	59	8823	c.8299G>A	c.(8299-8301)Gtc>Atc	p.V2767I	UBR5_ENST00000520539.1_Missense_Mutation_p.V2774I|UBR5_ENST00000220959.4_Missense_Mutation_p.V2773I|UBR5_ENST00000518205.1_Missense_Mutation_p.V502I			O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2774	HECT.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TAGAGTGGGACGTAAAGTCGA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(131;96 1741 5634 7352 27489)							NA				0													194	178	183			NA	NA	8		NA											NA				103266610		2203	4300	6503	SO:0001583	missense			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517	51366	51366		Ubiquitin protein ligase E3 component n-recognins	16806	protein-coding gene	gene with protein product		608413	E3 ubiquitin protein ligase, HECT domain containing, 1	EDD1	NA	10030672, 16055722	Standard	NM_015902	NM_015902	NA	Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000521922.1:c.8299G>A	8.37:g.103266610C>T	ENSP00000427819:p.Val2767Ile	NA	B2RP24|O94970|Q9NPL3	37		.	.	.	.	.	.	.	.	.	.	C	6.479	0.456561	0.12283	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.76	5.76	0.90799	HECT (4);	0.000000	0.64402	D	0.000001	T	0.25644	0.0624	N	0.01771	-0.73	0.80722	D	1	B;B	0.31790	0.34;0.34	B;B	0.26517	0.045;0.07	T	0.35649	-0.9780	10	0.06099	T	0.92	.	19.9595	0.97236	0.0:1.0:0.0:0.0	.	2767;2774	E7EMW7;O95071	.;UBR5_HUMAN	I	2774;2773;502;2767	ENSP00000429084:V2774I;ENSP00000220959:V2773I;ENSP00000428693:V502I;ENSP00000427819:V2767I	ENSP00000220959:V2773I	V	-	1	0	UBR5	103335786	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	7.734000	0.84928	2.706000	0.92434	0.563000	0.77884	GTC	UBR5-003	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000380199.1		-	ENST00000521922.1	Missense_Mutation	SNP	8 : 103266610 - 103266610 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	244	51
LAMC2	3918	broad.mit.edu	37	1	183212466	183212466	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183212466G>A	ENST00000264144.4	+	23	3578	c.3513G>A	c.(3511-3513)aaG>aaA	p.K1171K		NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	1171	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CTGATGTGAAGAACTTGGAGA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	102	103			NA	NA	1		NA											NA				183212466		2203	4300	6503	SO:0001819	synonymous_variant			Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085	3918	3918		Laminins	6493	protein-coding gene	gene with protein product		150292	laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))	EBR2, LAMB2T, LAMNB2, EBR2A	NA	1383240	Standard	NM_005562	NM_005562	NA	Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.3513G>A	1.37:g.183212466G>A		NA	Q02536|Q02537|Q13752|Q14941|Q14DF7|Q5VYE8	37	CCDS1352.1																																																																																			LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086258.1		+	ENST00000264144.4	Silent	SNP	1 : 183212466 - 183212466 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	506	112
PHPT1	29085	broad.mit.edu	37	9	139743981	139743981	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139743981C>T	ENST00000371661.1	+	2	476	c.99C>T	c.(97-99)tcC>tcT	p.S33S	PHPT1_ENST00000247665.10_Silent_p.S33S|PHPT1_ENST00000492540.1_3'UTR|PHPT1_ENST00000545326.1_Silent_p.S33S			Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1	33						cytosol	phosphohistidine phosphatase activity|phosphoprotein phosphatase activity			NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CTCCCCGCTCCGGGGCTCCGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	63	62			NA	NA	9		NA											NA				139743981		2203	4299	6502	SO:0001819	synonymous_variant			AF131857	CCDS7009.1, CCDS48060.1	9q34.3	2008-02-05			ENSG00000054148	ENSG00000054148	29085	29085	3.1.3.-		30033	protein-coding gene	gene with protein product	phosphohistidine phosphatase 14kDa,  sex-regulated protein janus-a	610167			NA	11042152, 8619474	Standard	NM_014172	NM_014172	NA	Approved	PHP14, HSPC141, CGI-202, DKFZp564M173, bA216L13.10	uc004cjq.4	Q9NRX4	OTTHUMG00000020950	ENST00000371661.1:c.99C>T	9.37:g.139743981C>T		NA	B1AMX0|B1AMX1|Q9H0Y3	37	CCDS48060.1																																																																																			PHPT1-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055152.2		+	ENST00000371661.1	Silent	SNP	9 : 139743981 - 139743981 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	524	51
PKD1	5310	broad.mit.edu	37	16	2161784	2161784	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2161784G>A	ENST00000262304.4	-	15	3592	c.3384C>T	c.(3382-3384)tcC>tcT	p.S1128S	PKD1_ENST00000423118.1_Silent_p.S1128S	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1128	PKD 5.|PKD 6.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCACAGCCACGGAGGGCAGGG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	20	19			NA	NA	16		NA											NA				2161784		2185	4285	6470	SO:0001819	synonymous_variant			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710	5310	5310		Voltage-gated ion channels / Transient receptor potential cation channels	9008	protein-coding gene	gene with protein product	polycystin 1, transient receptor potential cation channel, subfamily P, member 1	601313			NA		Standard		NM_001009944	NA	Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.3384C>T	16.37:g.2161784G>A		NA	Q15140|Q15141	37	CCDS32369.1																																																																																			PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341688.1		-	ENST00000262304.4	Silent	SNP	16 : 2161784 - 2161784 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	123	29
EIF4G1	1981	broad.mit.edu	37	3	184046477	184046477	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184046477C>A	ENST00000392537.2	+	24	3998	c.3751C>A	c.(3751-3753)Ctc>Atc	p.L1251I	EIF4G1_ENST00000411531.1_Missense_Mutation_p.L1299I|EIF4G1_ENST00000424196.1_Missense_Mutation_p.L1345I|EIF4G1_ENST00000342981.4_Missense_Mutation_p.L1339I|EIF4G1_ENST00000414031.1_Missense_Mutation_p.L1298I|EIF4G1_ENST00000319274.6_Missense_Mutation_p.L1338I|EIF4G1_ENST00000346169.2_Missense_Mutation_p.L1338I|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Missense_Mutation_p.L1143I|EIF4G1_ENST00000350481.5_Missense_Mutation_p.L1174I|EIF4G1_ENST00000352767.3_Missense_Mutation_p.L1345I|EIF4G1_ENST00000427845.1_Missense_Mutation_p.L1252I|EIF4G1_ENST00000441154.1_Missense_Mutation_p.L1175I|EIF4G1_ENST00000435046.2_Missense_Mutation_p.L1142I|EIF4G1_ENST00000382330.3_Missense_Mutation_p.L1345I	NM_198244.2	NP_937887	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1338	MI.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCACGTGTGGCTCTACCTAGC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	138	138			NA	NA	3		NA											NA				184046477		2203	4300	6503	SO:0001583	missense			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867	1981	1981		Parkinson disease	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F	NA	1429670, 9372926, 21907011	Standard	NM_182917	NM_182917	NA	Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000392537.2:c.3751C>A	3.37:g.184046477C>A	ENSP00000376320:p.Leu1251Ile	NA	D3DNT4|D3DNT5|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	37	CCDS3260.1	.	.	.	.	.	.	.	.	.	.	C	33	5.196356	0.94960	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.69	5.69	0.88448	Initiation factor eIF-4 gamma, MA3 (3);Armadillo-type fold (1);	0.064556	0.64402	D	0.000005	T	0.68284	0.2984	M	0.80028	2.48	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.66416	-0.5929	10	0.38643	T	0.18	-12.891	19.812	0.96551	0.0:1.0:0.0:0.0	.	1345;1339;1338	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	I	1338;1298;1251;1345;1174;1345;1252;1339;1338;1345;1299;1175;1143;1142	ENSP00000316879:L1338I;ENSP00000391935:L1298I;ENSP00000376320:L1251I;ENSP00000371767:L1345I;ENSP00000317600:L1174I;ENSP00000338020:L1345I;ENSP00000407682:L1252I;ENSP00000343450:L1339I;ENSP00000323737:L1338I;ENSP00000416255:L1345I;ENSP00000395974:L1299I;ENSP00000399858:L1175I;ENSP00000411826:L1143I;ENSP00000404754:L1142I	ENSP00000323737:L1338I	L	+	1	0	EIF4G1	185529171	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.013000	0.49582	2.685000	0.91497	0.655000	0.94253	CTC	EIF4G1-003	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345729.2		+	ENST00000392537.2	Missense_Mutation	SNP	3 : 184046477 - 184046477 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	732	138
DLGAP2	9228	broad.mit.edu	37	8	1624783	1624783	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:1624783C>T	ENST00000421627.2	+	8	2181	c.2047C>T	c.(2047-2049)Cga>Tga	p.R683*		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	762					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AGATGAGAAGCGGTAACTCAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	37	36			NA	NA	8		NA											NA				1624783		1911	4134	6045	SO:0001630	splice_region_variant			AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010	9228	9228			2906	protein-coding gene	gene with protein product		605438	discs, large (Drosophila) homolog-associated protein 2		NA	9286858, 10854099	Standard	NM_004745	NM_004745	NA	Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2048+1C>T	8.37:g.1624783C>T		NA	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	37	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	C	36	5.864159	0.97043	.	.	ENSG00000198010	ENST00000356067;ENST00000421627	.	.	.	5.66	2.83	0.33086	.	0.107337	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-4.6979	14.5081	0.67767	0.5095:0.4905:0.0:0.0	.	.	.	.	X	714;683	.	ENSP00000348366:R714X	R	+	1	2	DLGAP2	1612190	1.000000	0.71417	0.906000	0.35671	0.060000	0.15804	1.383000	0.34385	0.292000	0.22492	-0.309000	0.09137	CGA	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374478.1	Nonsense_Mutation	+	ENST00000421627.2	Splice_Site	SNP	8 : 1624783 - 1624783 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	89	13
SEMA5B	54437	broad.mit.edu	37	3	122646797	122646797	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122646797G>T	ENST00000357599.3	-	8	1076	c.690C>A	c.(688-690)ccC>ccA	p.P230P	SEMA5B_ENST00000195173.4_Silent_p.P230P|SEMA5B_ENST00000451055.2_Silent_p.P284P	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	230	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GTGGGTCATAGGGGCAGCGGG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	91	92			NA	NA	3		NA											NA				122646797		2203	4300	6503	SO:0001819	synonymous_variant			AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684	54437	54437		Semaphorins	10737	protein-coding gene	gene with protein product		609298		SEMAG	NA	8817451	Standard	NM_001031702	NM_001256346	NA	Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.690C>A	3.37:g.122646797G>T		NA	A8K5U2|Q6DD89|Q6UY12|Q9NW17	37	CCDS35491.1																																																																																			SEMA5B-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277165.1		-	ENST00000357599.3	Silent	SNP	3 : 122646797 - 122646797 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	468	74
C16orf62	57020	broad.mit.edu	37	16	19710833	19710833	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19710833C>T	ENST00000438132.3	+	30	2971	c.2923C>T	c.(2923-2925)Cgc>Tgc	p.R975C	C16orf62_ENST00000542263.1_Missense_Mutation_p.R882C|C16orf62_ENST00000448695.1_Missense_Mutation_p.R736C|C16orf62_ENST00000543152.1_Missense_Mutation_p.R635C|C16orf62_ENST00000417362.2_Missense_Mutation_p.R793C|C16orf62_ENST00000251143.5_Missense_Mutation_p.R886C	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	886						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GGCCCTGAAGCGCCAGAGCTC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG	0,4394		0,0,2197	88	78	81		2923	4.6	1	16		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	C16orf62	NM_020314.5	180	0,1,6496	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	975/1053	19710833	1,12993	2197	4300	6497	SO:0001583	missense				CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544	57020	57020			24641	protein-coding gene	gene with protein product					NA	10493829	Standard	NM_020314	NM_020314	NA	Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000438132.3:c.2923C>T	16.37:g.19710833C>T	ENSP00000400815:p.Arg975Cys	NA	A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	37	CCDS32397.2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316318	0.81469	0.0	1.16E-4	ENSG00000103544	ENST00000438132;ENST00000542263;ENST00000251143;ENST00000417362;ENST00000448695	T;T;T;T;T	0.67698	-0.28;0.6;-0.28;0.6;-0.28	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.78892	0.4355	M	0.73962	2.25	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.59288	0.736;0.855	T	0.80603	-0.1309	9	.	.	.	-15.6426	17.699	0.88289	0.0:1.0:0.0:0.0	.	882;886	F5H7K1;Q7Z3J2	.;CP062_HUMAN	C	975;882;886;793;736	ENSP00000400815:R975C;ENSP00000442468:R882C;ENSP00000251143:R886C;ENSP00000395973:R793C;ENSP00000398009:R736C	.	R	+	1	0	C16orf62	19618334	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.790000	0.47821	2.225000	0.72522	0.561000	0.74099	CGC	C16orf62-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397058.2		+	ENST00000438132.3	Missense_Mutation	SNP	16 : 19710833 - 19710833 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	259	38
CEP250	11190	broad.mit.edu	37	20	34081331	34081331	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34081331G>A	ENST00000397527.1	+	23	3685	c.2965G>A	c.(2965-2967)Gat>Aat	p.D989N	CEP250_ENST00000342580.4_Missense_Mutation_p.D933N	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	989	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GCAGCACAGAGATGACCTTGC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	62	60			NA	NA	20		NA											NA				34081331		2203	4300	6503	SO:0001583	missense			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001	11190	11190			1859	protein-coding gene	gene with protein product		609689	centrosomal protein 2	CEP2	NA	9506584, 9647649	Standard	NM_007186	NM_007186	NA	Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.2965G>A	20.37:g.34081331G>A	ENSP00000380661:p.Asp989Asn	NA	E1P5Q3|O14812|O60588|Q9H450	37	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	G	9.641	1.139066	0.21205	.	.	ENSG00000126001	ENST00000397527;ENST00000342580	T;T	0.10668	2.91;2.85	3.76	2.77	0.32553	.	1.390910	0.05106	N	0.488063	T	0.12944	0.0314	L	0.57536	1.79	0.09310	N	1	B	0.21071	0.051	B	0.17433	0.018	T	0.36720	-0.9736	10	0.17832	T	0.49	.	8.6375	0.33957	0.1154:0.0:0.8846:0.0	.	989	Q9BV73	CP250_HUMAN	N	989;933	ENSP00000380661:D989N;ENSP00000341541:D933N	ENSP00000341541:D933N	D	+	1	0	CEP250	33544745	0.388000	0.25197	0.058000	0.19502	0.391000	0.30476	2.396000	0.44468	1.942000	0.56320	0.174000	0.16983	GAT	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078877.7		+	ENST00000397527.1	Missense_Mutation	SNP	20 : 34081331 - 34081331 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	597	136
REM2	161253	broad.mit.edu	37	14	23354048	23354048	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23354048C>T	ENST00000536884.1	+	2	335	c.269C>T	c.(268-270)cCt>cTt	p.P90L	REM2_ENST00000267396.4_Missense_Mutation_p.P90L			Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	90					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		GACTGGCCACCTCAGGCCTCA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	44	42			NA	NA	14		NA											NA				23354048		2177	4273	6450	SO:0001583	missense				CCDS45082.1	14q11.2	2014-05-09	2006-12-14		ENSG00000139890	ENSG00000139890	161253	161253			20248	protein-coding gene	gene with protein product			RAS (RAD and GEM) like GTP binding 2		NA	10727423	Standard	NM_173527	NM_173527	NA	Approved	FLJ38964	uc001whf.1	Q8IYK8	OTTHUMG00000170277	ENST00000536884.1:c.269C>T	14.37:g.23354048C>T	ENSP00000442774:p.Pro90Leu	NA	Q8N8R8	37		.	.	.	.	.	.	.	.	.	.	C	17.93	3.508339	0.64410	.	.	ENSG00000139890	ENST00000267396;ENST00000536884	T;T	0.68181	-0.31;1.21	5.88	5.88	0.94601	.	0.213901	0.39909	N	0.001222	T	0.64461	0.2600	L	0.29908	0.895	0.58432	D	0.999997	P;B	0.45827	0.867;0.164	P;B	0.48030	0.564;0.06	T	0.65240	-0.6216	10	0.49607	T	0.09	.	17.1447	0.86763	0.0:1.0:0.0:0.0	.	90;90	B7Z5P1;Q8IYK8	.;REM2_HUMAN	L	90	ENSP00000267396:P90L;ENSP00000442774:P90L	ENSP00000267396:P90L	P	+	2	0	REM2	22423888	0.085000	0.21516	1.000000	0.80357	0.991000	0.79684	1.317000	0.33631	2.778000	0.95560	0.655000	0.94253	CCT	REM2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000408291.1		+	ENST00000536884.1	Missense_Mutation	SNP	14 : 23354048 - 23354048 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	362	33
TARBP1	6894	broad.mit.edu	37	1	234603362	234603362	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234603362A>G	ENST00000040877.1	-	4	1133	c.1134T>C	c.(1132-1134)tgT>tgC	p.C378C		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	378					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TTTTATAAATACACATATGCC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	77	77			NA	NA	1		NA											NA				234603362		2203	4300	6503	SO:0001819	synonymous_variant				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588	6894	6894			11568	protein-coding gene	gene with protein product	tRNA methyltransferase 3 homolog (S. cerevisiae)	605052	Tar (HIV-1) RNA binding protein 1		NA	1936997	Standard	NM_005646	NM_005646	NA	Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.1134T>C	1.37:g.234603362A>G		NA	Q9H581	37	CCDS1601.1																																																																																			TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092616.1		-	ENST00000040877.1	Silent	SNP	1 : 234603362 - 234603362 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	215	49
DYNC1H1	1778	broad.mit.edu	37	14	102467348	102467348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102467348C>T	ENST00000360184.4	+	19	4296	c.4132C>T	c.(4132-4134)Cga>Tga	p.R1378*		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1378	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGCCCGGTTGCGACAGTATGC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	144	142			NA	NA	14		NA											NA				102467348		2203	4300	6503	SO:0001587	stop_gained			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102	1778	1778		Cytoplasmic dyneins	2961	protein-coding gene	gene with protein product		600112	dynein, cytoplasmic, heavy polypeptide 1	DNECL, DNCL, DNCH1	NA	16260502, 8666668	Standard	NM_001376	NM_001376	NA	Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.4132C>T	14.37:g.102467348C>T	ENSP00000348965:p.Arg1378*	NA	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	44	10.575953	0.99430	.	.	ENSG00000197102	ENST00000360184	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1542	0.98100	0.0:1.0:0.0:0.0	.	.	.	.	X	1378	.	ENSP00000348965:R1378X	R	+	1	2	DYNC1H1	101537101	1.000000	0.71417	0.970000	0.41538	0.379000	0.30106	6.135000	0.71696	2.767000	0.95098	0.563000	0.77884	CGA	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414574.1		+	ENST00000360184.4	Nonsense_Mutation	SNP	14 : 102467348 - 102467348 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	914	171
FLG2	388698	broad.mit.edu	37	1	152325221	152325221	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152325221G>A	ENST00000388718.5	-	3	5113	c.5041C>T	c.(5041-5043)Cat>Tat	p.H1681Y	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1681							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTGTCCATGTTGAGATCCA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													444	385	405			NA	NA	1		NA											NA				152325221		2203	4300	6503	SO:0001583	missense			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520	388698	388698		EF-hand domain containing	33276	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_001014342	NM_001014342	NA	Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5041C>T	1.37:g.152325221G>A	ENSP00000373370:p.His1681Tyr	NA	Q9H4U1	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	9.859	1.195910	0.22037	.	.	ENSG00000143520	ENST00000388718	T	0.03801	3.8	3.69	2.73	0.32206	.	.	.	.	.	T	0.02418	0.0074	M	0.72118	2.19	0.09310	N	1	D	0.61697	0.99	P	0.48524	0.58	T	0.14924	-1.0455	9	0.02654	T	1	2.4938	8.3613	0.32361	0.0:0.0:0.7652:0.2348	.	1681	Q5D862	FILA2_HUMAN	Y	1681	ENSP00000373370:H1681Y	ENSP00000373370:H1681Y	H	-	1	0	FLG2	150591845	.	.	0.002000	0.10522	0.066000	0.16364	.	.	0.858000	0.35431	0.456000	0.33151	CAT	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034018.5		-	ENST00000388718.5	Missense_Mutation	SNP	1 : 152325221 - 152325221 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1974	332
B3GNT9	84752	broad.mit.edu	37	16	67183522	67183522	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67183522G>A	ENST00000449549.3	-	2	1402	c.867C>T	c.(865-867)ggC>ggT	p.G289G		NM_033309.2	NP_171608.2	Q6UX72	B3GN9_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9	289					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						CAAAGCCACCGCCGCCCGCGT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													6	9	8			NA	NA	16		NA											NA				67183522		2002	4111	6113	SO:0001819	synonymous_variant			BC012191	CCDS45509.1	16q22.1	2013-02-21			ENSG00000237172	ENSG00000237172	84752	84752		Beta 3-glycosyltransferases	28714	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_033309	NM_033309	NA	Approved	MGC4655	uc002erf.3	Q6UX72	OTTHUMG00000173315	ENST00000449549.3:c.867C>T	16.37:g.67183522G>A		NA	Q96EK0	37	CCDS45509.1																																																																																			B3GNT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000422732.1		-	ENST00000449549.3	Silent	SNP	16 : 67183522 - 67183522 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	86	13
PTGS1	5742	broad.mit.edu	37	9	125148839	125148839	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125148839G>A	ENST00000362012.2	+	9	1129	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	PTGS1_ENST00000223423.4_Missense_Mutation_p.R375H|AL162424.1_ENST00000600713.1_Intron|PTGS1_ENST00000540753.1_Missense_Mutation_p.R350H|PTGS1_ENST00000373698.5_Missense_Mutation_p.R266H	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	375					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	TACCGCAACCGCATTGCCATG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													220	207	211			NA	NA	9		NA											NA				125148839		2203	4300	6503	SO:0001583	missense			M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	5742	5742	1.14.99.1		9604	protein-coding gene	gene with protein product		176805			NA	2512924, 1907252	Standard		NM_000962	NA	Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.1124G>A	9.37:g.125148839G>A	ENSP00000354612:p.Arg375His	NA	A8K1V7|Q15122|Q5T7T6|Q5T7T7|Q5T7T8	37	CCDS6842.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361091	0.82353	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000373698	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	5.36	3.45	0.39498	.	0.048924	0.85682	D	0.000000	T	0.77818	0.4187	M	0.92555	3.32	0.80722	D	1	P;P;P	0.50710	0.772;0.938;0.855	P;P;P	0.49683	0.458;0.619;0.505	T	0.82285	-0.0533	10	0.87932	D	0	-22.6171	10.3217	0.43769	0.0749:0.1341:0.7911:0.0	.	350;375;375	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	H	350;375;375;266	ENSP00000437709:R350H;ENSP00000354612:R375H;ENSP00000223423:R375H;ENSP00000362802:R266H	ENSP00000223423:R375H	R	+	2	0	PTGS1	124188660	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.708000	0.84633	1.217000	0.43442	0.563000	0.77884	CGC	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053933.1		+	ENST00000362012.2	Missense_Mutation	SNP	9 : 125148839 - 125148839 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	984	39
DLGAP1	9229	broad.mit.edu	37	18	3879744	3879744	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3879744G>A	ENST00000315677.3	-	4	920	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	DLGAP1_ENST00000515196.2_Missense_Mutation_p.R109W|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R109W|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R109W|DLGAP1-AS3_ENST00000577649.1_RNA	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	109					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GGCAGCTGCCGCTCGAACTGG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	42	40			NA	NA	18		NA											NA				3879744		2170	4252	6422	SO:0001583	missense			AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579	9229	9229			2905	protein-coding gene	gene with protein product		605445	discs, large (Drosophila) homolog-associated protein 1		NA	9024696, 9286858	Standard		NM_004746	NA	Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.325C>T	18.37:g.3879744G>A	ENSP00000316377:p.Arg109Trp	NA	B2RMU8|B7WPA1|O14489|P78335	37	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440691	0.63067	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.18016	2.24;2.24	5.62	1.93	0.25924	.	0.052268	0.85682	D	0.000000	T	0.37433	0.1003	M	0.67953	2.075	0.58432	D	0.999994	D;D;D	0.89917	0.999;1.0;0.999	P;D;D	0.67231	0.798;0.95;0.945	T	0.19549	-1.0302	10	0.87932	D	0	-26.0641	14.8458	0.70259	0.0:0.0:0.434:0.566	.	109;109;109	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	W	109	ENSP00000316377:R109W;ENSP00000445973:R109W	ENSP00000316377:R109W	R	-	1	2	DLGAP1	3869744	0.999000	0.42202	0.998000	0.56505	0.983000	0.72400	1.120000	0.31271	0.092000	0.17331	-0.181000	0.13052	CGG	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254394.4		-	ENST00000315677.3	Missense_Mutation	SNP	18 : 3879744 - 3879744 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	671	124
HTATSF1	27336	broad.mit.edu	37	X	135581775	135581775	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135581775G>A	ENST00000218364.4	+	2	379	c.205G>A	c.(205-207)Gct>Act	p.A69T	HTATSF1_ENST00000535601.1_Missense_Mutation_p.A69T	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	69					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					AGATTTCATTGCTACATATCA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	120	121			NA	NA	X		NA											NA				135581775		2203	4300	6503	SO:0001583	missense			U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241	27336	27336		RNA binding motif (RRM) containing	5276	protein-coding gene	gene with protein product		300346	HIV TAT specific factor 1		NA	8849451	Standard	NM_014500	NM_014500	NA	Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.205G>A	X.37:g.135581775G>A	ENSP00000218364:p.Ala69Thr	NA	D3DWG9|Q59G06|Q99730	37	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	G	34	5.296110	0.95574	.	.	ENSG00000102241	ENST00000535601;ENST00000448450;ENST00000425695;ENST00000218364;ENST00000415377	T;T	0.27557	1.66;1.66	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.61311	0.2337	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.66400	-0.5933	10	0.66056	D	0.02	-18.9917	18.6736	0.91521	0.0:0.0:1.0:0.0	.	69	O43719	HTSF1_HUMAN	T	69	ENSP00000442699:A69T;ENSP00000218364:A69T	ENSP00000218364:A69T	A	+	1	0	HTATSF1	135409441	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.550000	0.90675	2.353000	0.79882	0.594000	0.82650	GCT	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058497.1		+	ENST00000218364.4	Missense_Mutation	SNP	X : 135581775 - 135581775 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	573	140
MUC2	4583	broad.mit.edu	37	11	1104196	1104196	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1104196T>C	ENST00000441003.2	+	49	8414	c.8387T>C	c.(8386-8388)gTc>gCc	p.V2796A		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	5158						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAGGACACCGTCTGCGGGCTC	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	20	19			NA	NA	11		NA											NA				1104196		1942	4126	6068	SO:0001583	missense			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788	4583	4583		Mucins	7512	protein-coding gene	gene with protein product		158370	mucin 2, intestinal/tracheal		NA	15081123	Standard	NM_002457	NM_002457	NA	Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.8387T>C	11.37:g.1104196T>C	ENSP00000415183:p.Val2796Ala	NA	Q14878	37		.	.	.	.	.	.	.	.	.	.	T	6.582	0.475700	0.12521	.	.	ENSG00000198788	ENST00000441003	T	0.11169	2.8	3.1	-6.21	0.02065	.	.	.	.	.	T	0.04497	0.0123	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45963	-0.9225	9	0.08599	T	0.76	.	7.2697	0.26250	0.2047:0.5492:0.0:0.2461	.	2796	E7EUV1	.	A	2796	ENSP00000415183:V2796A	ENSP00000415183:V2796A	V	+	2	0	MUC2	1094196	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.973000	0.01500	-1.574000	0.01657	-0.589000	0.04120	GTC	MUC2-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000345894.2		+	ENST00000441003.2	Missense_Mutation	SNP	11 : 1104196 - 1104196 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	129	23
ITPR1	3708	broad.mit.edu	37	3	4747971	4747971	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4747971C>T	ENST00000357086.4	+	37	5099	c.4751C>T	c.(4750-4752)gCc>gTc	p.A1584V	ITPR1_ENST00000456211.2_Missense_Mutation_p.A1569V|ITPR1_ENST00000302640.8_Missense_Mutation_p.A1578V|ITPR1_ENST00000423119.2_Missense_Mutation_p.A1584V|ITPR1_ENST00000443694.2_Missense_Mutation_p.A1578V|ITPR1_ENST00000354582.6_Missense_Mutation_p.A1593V|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1593					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GCCCGCAATGCCGCACGCAGG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	52	51			NA	NA	3		NA											NA				4747971		2032	4183	6215	SO:0001583	missense			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995	3708	3708		Ion channels / Inositol triphosphate receptors	6180	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 94	147265	spinocerebellar ataxia 15, spinocerebellar ataxia 16, spinocerebellar ataxia 29	SCA15, SCA16, SCA29	NA	7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_002222	NM_001099952	NA	Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000357086.4:c.4751C>T	3.37:g.4747971C>T	ENSP00000349597:p.Ala1584Val	NA	Q14660|Q99897	37	CCDS46740.2	.	.	.	.	.	.	.	.	.	.	C	15.56	2.868283	0.51588	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.26	5.26	0.73747	.	0.108661	0.64402	D	0.000005	T	0.57475	0.2056	L	0.40543	1.245	0.80722	D	1	B;B	0.25390	0.005;0.125	B;B	0.32624	0.003;0.149	T	0.51826	-0.8656	10	0.14252	T	0.57	.	19.2432	0.93891	0.0:1.0:0.0:0.0	.	1593;1584	Q14643;G5E9P1	ITPR1_HUMAN;.	V	1593;1578;1593;1584;39;1584;1569;1578	ENSP00000306253:A1578V;ENSP00000346595:A1593V;ENSP00000405934:A1584V;ENSP00000349597:A1584V;ENSP00000397885:A1569V;ENSP00000401671:A1578V	ENSP00000306253:A1578V	A	+	2	0	ITPR1	4722971	1.000000	0.71417	0.864000	0.33941	0.356000	0.29392	5.835000	0.69368	2.609000	0.88269	0.655000	0.94253	GCC	ITPR1-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337979.3		+	ENST00000357086.4	Missense_Mutation	SNP	3 : 4747971 - 4747971 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	242	34
ABCA13	154664	broad.mit.edu	37	7	48313692	48313692	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48313692G>A	ENST00000435803.1	+	17	4453	c.4429G>A	c.(4429-4431)Gtc>Atc	p.V1477I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1477					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACTTACTACAGTCTTTGAAAA	0.279		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	25	24			NA	NA	7		NA											NA				48313692		1799	4036	5835	SO:0001583	missense			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869	154664	154664		ATP binding cassette transporters / subfamily A	14638	protein-coding gene	gene with protein product		607807			NA	12697998	Standard	NM_152701	NM_152701	NA	Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.4429G>A	7.37:g.48313692G>A	ENSP00000411096:p.Val1477Ile	NA	Q6ZTT7|Q86WI2|Q8N248	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	3.931	-0.016142	0.07681	.	.	ENSG00000179869	ENST00000435803	D	0.86230	-2.09	5.44	0.957	0.19613	.	0.864468	0.09652	N	0.773524	T	0.74619	0.3740	L	0.31294	0.92	0.09310	N	1	B	0.17852	0.024	B	0.12156	0.007	T	0.57359	-0.7825	9	.	.	.	.	0.6646	0.00848	0.2633:0.1254:0.3668:0.2445	.	1477	Q86UQ4	ABCAD_HUMAN	I	1477	ENSP00000411096:V1477I	.	V	+	1	0	ABCA13	48284238	0.092000	0.21681	0.047000	0.18901	0.509000	0.34042	0.727000	0.25999	0.369000	0.24510	-0.251000	0.11542	GTC	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341964.2		+	ENST00000435803.1	Missense_Mutation	SNP	7 : 48313692 - 48313692 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	84	13
NCAPD3	23310	broad.mit.edu	37	11	134037948	134037948	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134037948A>C	ENST00000534548.2	-	27	3580	c.3516T>G	c.(3514-3516)gaT>gaG	p.D1172E		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1172					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AGGCCATGTCATCTTCTTCCA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													254	215	228			NA	NA	11		NA											NA				134037948		2201	4297	6498	SO:0001583	missense			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503	23310	23310			28952	protein-coding gene	gene with protein product		609276			NA	7584044, 8619474, 14532007	Standard	NM_015261	NM_015261	NA	Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.3516T>G	11.37:g.134037948A>C	ENSP00000433681:p.Asp1172Glu	NA	A6NFS2|Q4KMQ9	37	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	a	13.31	2.197632	0.38806	.	.	ENSG00000151503	ENST00000534548;ENST00000527944;ENST00000530396	T;T;T	0.66280	-0.2;-0.2;-0.2	5.5	-2.34	0.06704	Armadillo-type fold (1);	0.284386	0.43260	N	0.000584	T	0.40522	0.1120	L	0.32530	0.975	0.80722	D	1	B;B	0.21688	0.032;0.059	B;B	0.19666	0.026;0.017	T	0.08576	-1.0715	10	0.15952	T	0.53	-12.4742	6.7877	0.23682	0.5433:0.1244:0.3322:0.0	.	1172;232	P42695;Q96FA6	CNDD3_HUMAN;.	E	1172;77;208	ENSP00000433681:D1172E;ENSP00000432532:D77E;ENSP00000435173:D208E	ENSP00000432532:D77E	D	-	3	2	NCAPD3	133543158	0.988000	0.35896	0.856000	0.33681	0.856000	0.48823	0.370000	0.20433	-0.722000	0.04922	0.473000	0.43528	GAT	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393575.2		-	ENST00000534548.2	Missense_Mutation	SNP	11 : 134037948 - 134037948 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	757	132
HLCS	3141	broad.mit.edu	37	21	38139572	38139572	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38139572G>A	ENST00000399120.1	-	8	2696	c.1466C>T	c.(1465-1467)aCa>aTa	p.T489I	HLCS_ENST00000336648.4_Missense_Mutation_p.T489I	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	489					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TTCCTGCGGTGTCTGAAACAT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	89	95			NA	NA	21		NA											NA				38139572		2203	4300	6503	SO:0001583	missense				CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	3141	3141	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase), holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)		NA	7842009	Standard		NM_000411	NA	Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.1466C>T	21.37:g.38139572G>A	ENSP00000382071:p.Thr489Ile	NA	D3DSG6|Q99451	37	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.263207	0.23051	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.94280	-3.39;-3.39	6.11	-0.369	0.12534	Biotin/lipoate A/B protein ligase (1);	0.671223	0.16243	N	0.223068	T	0.82070	0.4957	N	0.16130	0.375	0.20403	N	0.999901	B	0.02656	0.0	B	0.01281	0.0	T	0.67229	-0.5723	10	0.16420	T	0.52	.	5.6186	0.17446	0.552:0.0:0.3278:0.1203	.	489	P50747	BPL1_HUMAN	I	489	ENSP00000382071:T489I;ENSP00000338387:T489I	ENSP00000338387:T489I	T	-	2	0	HLCS	37061442	0.976000	0.34144	0.988000	0.46212	0.810000	0.45777	1.139000	0.31504	-0.028000	0.13850	-0.290000	0.09829	ACA	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000194687.2		-	ENST00000399120.1	Missense_Mutation	SNP	21 : 38139572 - 38139572 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	473	58
ATP10A	57194	broad.mit.edu	37	15	25959091	25959091	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25959091G>A	ENST00000356865.6	-	10	2185	c.2074C>T	c.(2074-2076)Cgg>Tgg	p.R692W		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	692					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCCTCGTACCGCAGCTCGCGC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	36	36			NA	NA	15		NA											NA				25959091		2203	4299	6502	SO:0001583	missense			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190	57194	57194		ATPases / P-type	13542	protein-coding gene	gene with protein product		605855	ATPase, Class V, type 10C, ATPase, Class V, type 10A	ATP10C	NA	11015572, 9628581	Standard	NM_024490	NM_024490	NA	Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2074C>T	15.37:g.25959091G>A	ENSP00000349325:p.Arg692Trp	NA	Q969I4	37	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199519	0.58126	.	.	ENSG00000206190	ENST00000356865	T	0.63580	-0.05	4.5	3.56	0.40772	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.78091	0.4229	M	0.86864	2.845	0.53688	D	0.999978	D	0.76494	0.999	P	0.61658	0.892	T	0.79936	-0.1593	10	0.38643	T	0.18	-30.3787	13.9862	0.64337	0.0:0.0:0.8471:0.1529	.	692	O60312	AT10A_HUMAN	W	692	ENSP00000349325:R692W	ENSP00000349325:R692W	R	-	1	2	ATP10A	23510184	1.000000	0.71417	0.997000	0.53966	0.675000	0.39556	4.994000	0.63901	1.003000	0.39130	0.561000	0.74099	CGG	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414830.1		-	ENST00000356865.6	Missense_Mutation	SNP	15 : 25959091 - 25959091 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	303	56
KDM2B	84678	broad.mit.edu	37	12	121880000	121880000	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121880000G>T	ENST00000377069.4	-	18	3443	c.3037C>A	c.(3037-3039)Ctg>Atg	p.L1013M	KDM2B_ENST00000377071.4_Missense_Mutation_p.L1082M|KDM2B_ENST00000542973.1_Missense_Mutation_p.L450M|KDM2B_ENST00000536437.1_Intron	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1082					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CACACACACAGGTCTTGGTGG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	38	37			NA	NA	12		NA											NA				121880000		2067	4189	6256	SO:0001583	missense			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094	84678	84678		F-boxes / Leucine-rich repeats, Chromatin-modifying enzymes / K-demethylases	13610	protein-coding gene	gene with protein product	jumonji C domain-containing histone demethylase 1B	609078	F-box and leucine-rich repeat protein 10	FBXL10	NA	10799292	Standard	NM_032590	NM_032590	NA	Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377069.4:c.3037C>A	12.37:g.121880000G>T	ENSP00000366269:p.Leu1013Met	NA	Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	37	CCDS41849.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869251	0.72065	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.22743	1.94;1.94;1.94	5.85	2.95	0.34219	F-box domain, cyclin-like (2);	0.147705	0.30575	N	0.009333	T	0.53498	0.1800	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;0.996	D;D;D;D	0.91635	0.981;0.999;0.999;0.975	T	0.58002	-0.7713	10	0.87932	D	0	-20.2148	9.0297	0.36252	0.3872:0.0:0.6128:0.0	.	522;1082;1013;525	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	M	1070;450;1013;1082;525;1085	ENSP00000437821:L450M;ENSP00000366269:L1013M;ENSP00000366271:L1082M	ENSP00000261824:L1085M	L	-	1	2	KDM2B	120364383	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.798000	0.47884	0.334000	0.23590	0.650000	0.86243	CTG	KDM2B-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402131.2		-	ENST00000377069.4	Missense_Mutation	SNP	12 : 121880000 - 121880000 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	57
HLA-G	3135	broad.mit.edu	37	6	29796436	29796436	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29796436C>A	ENST00000376828.2	+	4	547	c.475C>A	c.(475-477)Ctg>Atg	p.L159M	HLA-G_ENST00000376818.3_Intron|HLA-G_ENST00000428701.1_Missense_Mutation_p.L154M|HLA-G_ENST00000360323.6_Missense_Mutation_p.L154M|HLA-G_ENST00000376815.3_Intron			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	154	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						GAACGAGGACCTGCGCTCCTG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CD984106	HLA-G	D	rs41557518						113	99	104			NA	NA	6		NA											NA				29796436		1511	2709	4220	SO:0001583	missense				CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632	3135	3135		Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing	4964	protein-coding gene	gene with protein product	b2 microglobulin	142871	HLA-G histocompatibility antigen, class I, G		NA		Standard	NM_002127	NM_002127	NA	Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000376828.2:c.475C>A	6.37:g.29796436C>A	ENSP00000366024:p.Leu159Met	NA		37		.	.	.	.	.	.	.	.	.	.	.	13.29	2.193006	0.38707	.	.	ENSG00000204632	ENST00000376828;ENST00000428701;ENST00000360323	T;T;T	0.01076	5.37;5.37;5.37	1.72	-0.768	0.11013	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.537287	0.12660	U	0.449709	T	0.03348	0.0097	H	0.96430	3.82	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.19745	-1.0296	10	0.87932	D	0	.	2.4347	0.04480	0.4383:0.3625:0.0:0.1993	.	159;154	Q5RJ85;P17693	.;HLAG_HUMAN	M	159;154;154	ENSP00000366024:L159M;ENSP00000412927:L154M;ENSP00000353472:L154M	ENSP00000353472:L154M	L	+	1	2	HLA-G	29904415	0.000000	0.05858	0.890000	0.34922	0.087000	0.18053	-0.549000	0.06041	0.071000	0.16664	0.298000	0.19748	CTG	HLA-G-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000076288.2		+	ENST00000376828.2	Missense_Mutation	SNP	6 : 29796436 - 29796436 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	579	26
SEMA5B	54437	broad.mit.edu	37	3	122631763	122631763	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122631763C>T	ENST00000357599.3	-	18	3038	c.2652G>A	c.(2650-2652)gaG>gaA	p.E884E	SEMA5B_ENST00000195173.4_Silent_p.E883E|SEMA5B_ENST00000451055.2_Silent_p.E938E	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	884	TSP type-1 3.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CGTTGCGGGGCTCCGGGTTAG	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4402		0,0,2201	35	44	41		2652	5	1	3		41	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	SEMA5B	NM_001031702.2		0,1,6499	TT,TC,CC	NA	0.0116,0.0,0.0077		884/1152	122631763	1,12999	2201	4299	6500	SO:0001819	synonymous_variant			AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684	54437	54437		Semaphorins	10737	protein-coding gene	gene with protein product		609298		SEMAG	NA	8817451	Standard	NM_001031702	NM_001256346	NA	Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.2652G>A	3.37:g.122631763C>T		NA	A8K5U2|Q6DD89|Q6UY12|Q9NW17	37	CCDS35491.1																																																																																			SEMA5B-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277165.1		-	ENST00000357599.3	Silent	SNP	3 : 122631763 - 122631763 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	488	95
DNAH8	1769	broad.mit.edu	37	6	38834380	38834380	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38834380C>T	ENST00000359357.3	+	44	6115	c.5861C>T	c.(5860-5862)gCt>gTt	p.A1954V	DNAH8_ENST00000441566.1_Missense_Mutation_p.A1954V|DNAH8_ENST00000449981.2_Missense_Mutation_p.A2171V					dynein, axonemal, heavy chain 8	NA										NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCTGGATATGCTGGGCGCCAG	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	61	61			NA	NA	6		NA											NA				38834380		2203	4300	6503	SO:0001583	missense			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721	1769	1769		Axonemal dyneins	2952	protein-coding gene	gene with protein product		603337	dynein, axonemal, heavy polypeptide 8		NA	9373155	Standard	NM_001206927	NM_001206927	NA	Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.5861C>T	6.37:g.38834380C>T	ENSP00000352312:p.Ala1954Val	NA		37		.	.	.	.	.	.	.	.	.	.	C	35	5.518254	0.96416	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.14022	2.54;2.54;2.54	5.87	5.87	0.94306	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.35970	0.0950	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.07366	-1.0776	10	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	1954	Q96JB1	DYH8_HUMAN	V	2159;2159;1954;1954	ENSP00000333363:A2159V;ENSP00000352312:A1954V;ENSP00000402294:A1954V	ENSP00000333363:A2159V	A	+	2	0	DNAH8	38942358	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.768000	0.85345	2.941000	0.99782	0.655000	0.94253	GCT	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000043574.1		+	ENST00000359357.3	Missense_Mutation	SNP	6 : 38834380 - 38834380 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	161	31
ARHGAP31	57514	broad.mit.edu	37	3	119132980	119132980	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119132980G>A	ENST00000264245.4	+	12	2736	c.2204G>A	c.(2203-2205)aGc>aAc	p.S735N		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	735	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						ACAGCAGCCAGCAGAGAGAAG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(7;176 297 5394 51128 51241)							NA				0													54	59	57			NA	NA	3		NA											NA				119132980		1965	4147	6112	SO:0001583	missense				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081	57514	57514		Rho GTPase activating proteins	29216	protein-coding gene	gene with protein product		610911			NA	9786927, 12819203, 16519628	Standard		NM_020754	NA	Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2204G>A	3.37:g.119132980G>A	ENSP00000264245:p.Ser735Asn	NA	Q9ULL6	37	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	2.576	-0.298530	0.05532	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.06218	3.33	5.3	-5.78	0.02362	.	0.804525	0.11439	N	0.564024	T	0.01695	0.0054	N	0.01168	-0.975	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49113	-0.8973	10	0.11485	T	0.65	.	9.6946	0.40150	0.2901:0.0:0.5885:0.1214	.	735	Q2M1Z3	RHG31_HUMAN	N	735	ENSP00000264245:S735N	ENSP00000264245:S735N	S	+	2	0	ARHGAP31	120615670	0.000000	0.05858	0.000000	0.03702	0.166000	0.22503	-0.413000	0.07123	-0.783000	0.04534	-0.290000	0.09829	AGC	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354942.2		+	ENST00000264245.4	Missense_Mutation	SNP	3 : 119132980 - 119132980 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	547	101
NSFL1C	55968	broad.mit.edu	37	20	1433256	1433256	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1433256G>A	ENST00000216879.4	-	7	1534	c.667C>T	c.(667-669)Cgg>Tgg	p.R223W	NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000381658.4_Missense_Mutation_p.R112W|NSFL1C_ENST00000350991.4_Missense_Mutation_p.R225W|NSFL1C_ENST00000353088.2_Missense_Mutation_p.R192W|NSFL1C_ENST00000476071.1_Missense_Mutation_p.R225W	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	223	SEP.					chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						GCTAGCCTCCGAAGCTCTGCT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	137	140			NA	NA	20		NA											NA				1433256		2203	4300	6503	SO:0001583	missense			AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833	55968	55968		UBX domain containing	15912	protein-coding gene	gene with protein product	SHP1 homolog (S. cerevisiae), UBX domain protein 2C	606610			NA	11042152	Standard	NM_016143	NM_016143	NA	Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.667C>T	20.37:g.1433256G>A	ENSP00000216879:p.Arg223Trp	NA	A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	37	CCDS13015.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206609	0.58343	.	.	ENSG00000088833	ENST00000353088;ENST00000476071;ENST00000216879;ENST00000381658;ENST00000350991	T;T;T;T;T	0.46063	0.91;0.89;0.9;0.88;0.89	5.13	5.13	0.70059	SEP domain (4);	0.000000	0.85682	D	0.000000	T	0.58177	0.2104	L	0.45352	1.415	0.80722	D	1	D;B;P	0.89917	1.0;0.252;0.459	D;B;B	0.83275	0.996;0.031;0.094	T	0.58399	-0.7643	10	0.66056	D	0.02	-9.271	17.2951	0.87168	0.0:0.0:1.0:0.0	.	192;112;223	Q9UNZ2-4;Q9UNZ2-6;Q9UNZ2	.;.;NSF1C_HUMAN	W	192;225;223;112;225	ENSP00000338643:R192W;ENSP00000418529:R225W;ENSP00000216879:R223W;ENSP00000371074:R112W;ENSP00000202584:R225W	ENSP00000216879:R223W	R	-	1	2	NSFL1C	1381256	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.655000	0.54460	2.824000	0.97209	0.655000	0.94253	CGG	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077525.2		-	ENST00000216879.4	Missense_Mutation	SNP	20 : 1433256 - 1433256 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	745	169
MYH1	4619	broad.mit.edu	37	17	10409416	10409416	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10409416C>T	ENST00000226207.5	-	18	2063	c.1969G>A	c.(1969-1971)Gag>Aag	p.E657K	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	657	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTCAAATTCTCCTGTGGAACC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	129	130			NA	NA	17		NA											NA				10409416		2203	4300	6503	SO:0001630	splice_region_variant				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061	4619	4619		Myosins / Myosin superfamily : Class II	7567	protein-coding gene	gene with protein product	myosin heavy chain IIx/d	160730	myosin, heavy polypeptide 1, skeletal muscle, adult		NA	6304733	Standard	NM_005963	NM_005963	NA	Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1969-1G>A	17.37:g.10409416C>T		NA	Q14CA4|Q9Y622	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.880945	0.91740	.	.	ENSG00000109061	ENST00000226207	T	0.72167	-0.63	5.18	5.18	0.71444	Myosin head, motor domain (2);	0.000000	0.43579	U	0.000542	D	0.83580	0.5285	M	0.82630	2.6	0.80722	D	1	P	0.49961	0.93	P	0.56865	0.808	D	0.85289	0.1066	10	0.66056	D	0.02	.	19.2559	0.93945	0.0:1.0:0.0:0.0	.	657	P12882	MYH1_HUMAN	K	657	ENSP00000226207:E657K	ENSP00000226207:E657K	E	-	1	0	MYH1	10350141	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.425000	0.80255	2.861000	0.98227	0.650000	0.86243	GAG	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252725.1	Missense_Mutation	-	ENST00000226207.5	Splice_Site	SNP	17 : 10409416 - 10409416 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	667	123
ERN2	10595	broad.mit.edu	37	16	23706195	23706195	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23706195C>A	ENST00000457008.2	-	16	1836	c.1798G>T	c.(1798-1800)Ggc>Tgc	p.G600C	ERN2_ENST00000256797.4_Missense_Mutation_p.G700C			Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	652	Protein kinase.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CTGCCCAGGCCCTGGCTGTCA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	39	39			NA	NA	16		NA											NA				23706195		2196	4300	6496	SO:0001583	missense			AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398	10595	10595			16942	protein-coding gene	gene with protein product		604034	ER to nucleus signalling 2		NA	9755171, 11175748	Standard		NM_033266	NA	Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.1798G>T	16.37:g.23706195C>A	ENSP00000413812:p.Gly600Cys	NA	Q6ZNC0	37		.	.	.	.	.	.	.	.	.	.	C	17.43	3.388176	0.61956	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.56941	0.43;0.43	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.74596	0.3737	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.77848	-0.2435	10	0.87932	D	0	.	16.9969	0.86370	0.0:1.0:0.0:0.0	.	600;652	E7ETG2;A5YM65	.;.	C	700;600	ENSP00000256797:G700C;ENSP00000413812:G600C	ENSP00000256797:G700C	G	-	1	0	ERN2	23613696	1.000000	0.71417	0.976000	0.42696	0.054000	0.15201	5.689000	0.68234	2.676000	0.91093	0.655000	0.94253	GGC	ERN2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000434886.1		-	ENST00000457008.2	Missense_Mutation	SNP	16 : 23706195 - 23706195 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	233	41
PRR14L	253143	broad.mit.edu	37	22	32108130	32108130	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32108130C>T	ENST00000327423.6	-	4	5884	c.5695G>A	c.(5695-5697)Gaa>Aaa	p.E1899K	PRR14L_ENST00000397493.2_Missense_Mutation_p.E1899K|PRR14L_ENST00000434485.1_Missense_Mutation_p.E1899K	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1899										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						GAAGAGATTTCGAAGGAGCAG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	94	96			NA	NA	22		NA											NA				32108130		2203	4300	6503	SO:0001583	missense			BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530	253143	253143			28738	protein-coding gene	gene with protein product			chromosome 22 open reading frame 30	C22orf30	NA	12477932	Standard	NM_173566	NM_173566	NA	Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.5695G>A	22.37:g.32108130C>T	ENSP00000331845:p.Glu1899Lys	NA	Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	37	CCDS13900.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.95|16.95	3.263306|3.263306	0.59431|0.59431	.|.	.|.	ENSG00000183530|ENSG00000183530	ENST00000397493;ENST00000327423;ENST00000434485|ENST00000330495	T;T;T|.	0.34472|.	1.36;1.36;1.36|.	5.66|5.66	2.45|2.45	0.29901|0.29901	.|.	0.509449|.	0.22600|.	N|.	0.057964|.	T|T	0.24812|0.24812	0.0602|0.0602	N|N	0.22421|0.22421	0.69|0.69	0.26226|0.26226	N|N	0.979083|0.979083	P;P;P|.	0.50617|.	0.937;0.842;0.842|.	B;B;B|.	0.43623|.	0.425;0.129;0.214|.	T|T	0.20472|0.20472	-1.0274|-1.0274	10|5	0.21540|.	T|.	0.41|.	-5.2967|-5.2967	7.4879|7.4879	0.27443|0.27443	0.0:0.6671:0.0:0.3329|0.0:0.6671:0.0:0.3329	.|.	1899;1899;1899|.	Q5THK1-2;Q5THK1;Q5THK1-4|.	.;PR14L_HUMAN;.|.	K|Q	1899|201	ENSP00000380630:E1899K;ENSP00000331845:E1899K;ENSP00000388314:E1899K|.	ENSP00000331845:E1899K|.	E|R	-|-	1|2	0|0	PRR14L|PRR14L	30438130|30438130	0.939000|0.939000	0.31865|0.31865	0.952000|0.952000	0.39060|0.39060	0.998000|0.998000	0.95712|0.95712	0.650000|0.650000	0.24858|0.24858	0.722000|0.722000	0.32252|0.32252	0.655000|0.655000	0.94253|0.94253	GAA|CGA	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000074993.2		-	ENST00000327423.6	Missense_Mutation	SNP	22 : 32108130 - 32108130 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	499	21
RTTN	25914	broad.mit.edu	37	18	67855345	67855345	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:67855345A>G	ENST00000255674.6	-	10	1590	c.1304T>C	c.(1303-1305)aTg>aCg	p.M435T	RTTN_ENST00000437017.1_Splice_Site_p.M435T|RTTN_ENST00000454359.1_Splice_Site_p.M435T	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	435							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GATTCTTACCATATCTATACC	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	88	91			NA	NA	18		NA											NA				67855345		1816	4077	5893	SO:0001630	splice_region_variant			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225	25914	25914			18654	protein-coding gene	gene with protein product		610436			NA	11900971	Standard	NM_173630	NM_173630	NA	Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.1305+1T>C	18.37:g.67855345A>G		NA	Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	37	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	A	12.40	1.927553	0.34002	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	T;T;T	0.64085	0.67;-0.08;-0.08	5.53	5.53	0.82687	Armadillo-type fold (1);	0.125811	0.56097	D	0.000035	T	0.55305	0.1912	L	0.44542	1.39	0.33720	D	0.616864	B;B	0.31817	0.152;0.341	B;B	0.27076	0.023;0.076	T	0.69109	-0.5232	10	0.72032	D	0.01	.	15.6644	0.77217	1.0:0.0:0.0:0.0	.	435;435	Q86VV8-2;Q86VV8	.;RTTN_HUMAN	T	435	ENSP00000255674:M435T;ENSP00000402352:M435T;ENSP00000399520:M435T	ENSP00000255674:M435T	M	-	2	0	RTTN	66006325	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.815000	0.86186	2.101000	0.63845	0.533000	0.62120	ATG	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442988.1	Missense_Mutation	-	ENST00000255674.6	Splice_Site	SNP	18 : 67855345 - 67855345 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	183	38
NECAP2	55707	broad.mit.edu	37	1	16770133	16770133	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16770133G>A	ENST00000504551.2	+	1	133				NECAP2_ENST00000337132.5_Silent_p.A33A|NECAP2_ENST00000457722.2_Silent_p.A7A|NECAP2_ENST00000406746.1_Silent_p.A33A|NECAP2_ENST00000443980.2_Silent_p.A33A			Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	NA					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TTAGGGCTGCGGAGTGGCAGC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	36	35			NA	NA	1		NA											NA				16770133		2203	4300	6503	SO:0001627	intron_variant			AK021938	CCDS173.1, CCDS44066.1, CCDS44067.1	1p36.13	2008-02-05			ENSG00000157191	ENSG00000157191	55707	55707			25528	protein-coding gene	gene with protein product		611624			NA	14555962, 15494011	Standard	NM_018090	NM_001145277	NA	Approved	FLJ10420	uc001ayq.3	Q9NVZ3	OTTHUMG00000002313	ENST00000504551.2:c.92+2785G>A	1.37:g.16770133G>A		NA	B4DY19|E9PGQ8|Q5VSU4|Q5VSU5|Q9H7L1|Q9H8L1	37																																																																																				NECAP2-012	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000368124.2		+	ENST00000504551.2	Intron	SNP	1 : 16770133 - 16770133 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	81	12
ENPP3	5169	broad.mit.edu	37	6	131997935	131997935	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131997935C>T	ENST00000414305.1	+	11	1260	c.932C>T	c.(931-933)gCt>gTt	p.A311V	ENPP3_ENST00000358229.5_Missense_Mutation_p.A311V|ENPP3_ENST00000427148.2_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.A311V			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	311	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CTGCCCAAAGCTGAAAGGTAA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	79	79			NA	NA	6		NA											NA				131997935		2203	4300	6503	SO:0001583	missense			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	5169	5169	3.1.4.1, 3.6.1.9	CD molecules	3358	protein-coding gene	gene with protein product		602182		PDNP3	NA	9344668	Standard		NM_005021	NA	Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.932C>T	6.37:g.131997935C>T	ENSP00000406261:p.Ala311Val	NA	Q5JTL3	37	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703247	0.68501	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000358229	T;T;T	0.75477	-0.94;-0.94;-0.94	4.84	3.95	0.45737	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.741475	0.12195	N	0.490799	T	0.62441	0.2428	M	0.64676	1.99	0.80722	D	1	P	0.38335	0.627	B	0.41135	0.348	T	0.60826	-0.7186	10	0.34782	T	0.22	-5.1856	11.5456	0.50693	0.3241:0.6759:0.0:0.0	.	311	O14638	ENPP3_HUMAN	V	311	ENSP00000406261:A311V;ENSP00000350265:A311V;ENSP00000350964:A311V	ENSP00000350265:A311V	A	+	2	0	ENPP3	132039628	0.008000	0.16893	1.000000	0.80357	0.950000	0.60333	0.198000	0.17217	1.127000	0.42034	0.549000	0.68633	GCT	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043627.2		+	ENST00000414305.1	Missense_Mutation	SNP	6 : 131997935 - 131997935 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	61
EBLN2	55096	broad.mit.edu	37	3	73111947	73111947	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:73111947G>A	ENST00000533473.1	+	1	1138	c.715G>A	c.(715-717)Gcc>Acc	p.A239T	PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000394284.3_Intron|PPP4R2_ENST00000356692.5_Intron	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN	endogenous Bornavirus-like nucleoprotein 2	239							protein binding			endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						TGCAGAATCAGCCATAGGTTG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	168	167			NA	NA	3		NA											NA				73111947		1945	4147	6092	SO:0001583	missense				CCDS54608.1	3p13	2011-06-03			ENSG00000255423	ENSG00000255423	55096	55096			25493	protein-coding gene	gene with protein product	endogenous Borna-like N element 2	613250			NA	20054395, 20686665	Standard	NM_018029	NM_018029	NA	Approved		uc003dpj.3	Q6P2I7	OTTHUMG00000165897	ENST00000533473.1:c.715G>A	3.37:g.73111947G>A	ENSP00000432104:p.Ala239Thr	NA	Q8WWH3|Q9NW89	37	CCDS54608.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.810902	0.32053	.	.	ENSG00000255423	ENST00000533473	.	.	.	0.468	0.468	0.16732	P40 nucleoprotein, subdomain 1, Borna disease virus (1);	.	.	.	.	T	0.40498	0.1119	L	0.27053	0.805	0.09310	N	1	D	0.62365	0.991	D	0.66602	0.945	T	0.22906	-1.0203	7	0.87932	D	0	.	.	.	.	.	239	Q6P2I7	EBLN2_HUMAN	T	239	.	ENSP00000432104:A239T	A	+	1	0	EBLN2	73194637	0.039000	0.19947	0.004000	0.12327	0.004000	0.04260	0.364000	0.20325	0.488000	0.27723	0.491000	0.48974	GCC	EBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386932.1		+	ENST00000533473.1	Missense_Mutation	SNP	3 : 73111947 - 73111947 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	745	149
KCNQ2	3785	broad.mit.edu	37	20	62070950	62070950	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62070950C>T	ENST00000359125.2	-	6	1102		c.e6+1		KCNQ2_ENST00000359689.1_Splice_Site|KCNQ2_ENST00000360480.3_Splice_Site|KCNQ2_ENST00000344425.5_Splice_Site|KCNQ2_ENST00000370224.1_Splice_Site|KCNQ2_ENST00000344462.4_Splice_Site|KCNQ2_ENST00000357249.2_Splice_Site|KCNQ2_ENST00000354587.3_Splice_Site	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	NA					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GCTGGACTTACTGCAGGCAGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	101	111			NA	NA	20		NA											NA				62070950		2203	4300	6503	SO:0001630	splice_region_variant			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043	3785	3785		Potassium channels, Voltage-gated ion channels / Potassium channels	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1	NA	9425895, 16382104	Standard	NM_172109	NM_172107	NA	Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.927+1G>A	20.37:g.62070950C>T		NA	O43796|O75580|O95845|Q4VXP4|Q5VYT8|Q96J59|Q99454	37	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.980181	0.34942	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222;ENST00000370221;ENST00000344425	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4798	0.84155	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KCNQ2	61541394	1.000000	0.71417	0.783000	0.31826	0.019000	0.09904	7.574000	0.82434	1.908000	0.55244	0.561000	0.74099	.	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080353.1	Intron	-	ENST00000359125.2	Splice_Site	SNP	20 : 62070950 - 62070950 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	443	59
NPHS2	7827	broad.mit.edu	37	1	179533830	179533830	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179533830C>T	ENST00000367615.4	-	2	441	c.373G>A	c.(373-375)Gta>Ata	p.V125I	NPHS2_ENST00000367616.4_Missense_Mutation_p.V125I	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	125					excretion	integral to plasma membrane	protein binding	p.V125L(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						CTCACCTTTACGCAGAACCAG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											68	69	69			NA	NA	1		NA											NA				179533830		2203	4300	6503	SO:0001583	missense			AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218	7827	7827			13394	protein-coding gene	gene with protein product		604766			NA	8589695, 10742096	Standard		XM_005245483	NA	Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.373G>A	1.37:g.179533830C>T	ENSP00000356587:p.Val125Ile	NA	B1AM32|B1AM33|Q8N6Q5	37	CCDS1331.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.617261	0.00828	.	.	ENSG00000116218	ENST00000367615;ENST00000367616	D;D	0.99470	-5.96;-5.96	5.46	-2.94	0.05581	.	0.267536	0.43416	N	0.000575	D	0.92404	0.7589	N	0.01228	-0.945	0.29344	N	0.86585	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	D	0.91621	0.5311	10	0.02654	T	1	-5.093	4.5848	0.12277	0.2438:0.3541:0.0:0.4022	.	125;125	Q9NP85-2;Q9NP85	.;PODO_HUMAN	I	125	ENSP00000356587:V125I;ENSP00000356588:V125I	ENSP00000356587:V125I	V	-	1	0	NPHS2	177800453	0.998000	0.40836	0.957000	0.39632	0.008000	0.06430	0.215000	0.17562	-0.887000	0.03961	-2.580000	0.00168	GTA	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085283.1		-	ENST00000367615.4	Missense_Mutation	SNP	1 : 179533830 - 179533830 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	321	58
MEPCE	56257	broad.mit.edu	37	7	100029193	100029193	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100029193C>T	ENST00000310512.2	+	1	1940	c.1552C>T	c.(1552-1554)Cga>Tga	p.R518*	MEPCE_ENST00000414441.1_Nonsense_Mutation_p.R49*	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	518	Bin3-type SAM.						methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CACCACCGTTCGAAAGAGGAG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	33	34			NA	NA	7		NA											NA				100029193		2203	4297	6500	SO:0001587	stop_gained			AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834	56257	56257			20247	protein-coding gene	gene with protein product		611478	bin3, bicoid-interacting 3, homolog (Drosophila)	BCDIN3	NA	12358911, 17643375	Standard		NM_019606	NA	Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.1552C>T	7.37:g.100029193C>T	ENSP00000308546:p.Arg518*	NA	Q9NPD4	37	CCDS5693.1	.	.	.	.	.	.	.	.	.	.	C	49	15.828728	0.99846	.	.	ENSG00000146834	ENST00000414441;ENST00000425355;ENST00000310512	.	.	.	5.48	2.6	0.31112	.	0.763190	0.12193	N	0.490961	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0106	11.4875	0.50363	0.4749:0.5251:0.0:0.0	.	.	.	.	X	49;49;518	.	ENSP00000308546:R518X	R	+	1	2	MEPCE	99867129	0.000000	0.05858	0.033000	0.17914	0.786000	0.44442	0.673000	0.25203	0.246000	0.21394	0.561000	0.74099	CGA	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339135.1		+	ENST00000310512.2	Nonsense_Mutation	SNP	7 : 100029193 - 100029193 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	290	49
KIFC3	3801	broad.mit.edu	37	16	57792813	57792813	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57792813G>A	ENST00000543930.1	-	0	2648				KIFC3_ENST00000421376.2_3'UTR|KIFC3_ENST00000562903.1_3'UTR|KIFC3_ENST00000465878.2_3'UTR|KIFC3_ENST00000541240.1_3'UTR|KIFC3_ENST00000539578.1_3'UTR|KIFC3_ENST00000379655.4_Missense_Mutation_p.R829W|KIFC3_ENST00000540079.2_3'UTR|KIFC3_ENST00000445690.2_3'UTR			Q9BVG8	KIFC3_HUMAN	kinesin family member C3	NA					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GGCAGTGGCCGCGACTTCCCT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,,TRP/ARG	0,4396		0,0,2198	75	57	63		,,2485	2.1	0.5	16		63	1,8597	1.2+/-3.3	0,1,4298	no	utr-3,utr-3,missense	KIFC3	NM_001130099.1,NM_001130100.1,NM_005550.3	,,101	0,1,6496	AA,AG,GG	NA	0.0116,0.0,0.0077	,,probably-damaging	,,829/834	57792813	1,12993	2198	4299	6497	SO:0001624	3_prime_UTR_variant			BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859	3801	3801		Kinesins	6326	protein-coding gene	gene with protein product		604535			NA	9782090	Standard	NM_005550	NM_001130099	NA	Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000543930.1:c.*33C>T	16.37:g.57792813G>A		NA	O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	37		.	.	.	.	.	.	.	.	.	.	G	11.60	1.685838	0.29962	0.0	1.16E-4	ENSG00000140859	ENST00000379655	T	0.75704	-0.96	3.22	2.09	0.27110	.	0.214284	0.29246	U	0.012717	T	0.54886	0.1886	N	0.08118	0	0.80722	D	1	D	0.53312	0.959	P	0.45377	0.478	T	0.58103	-0.7695	10	0.87932	D	0	.	7.8619	0.29514	0.0:0.0:0.216:0.784	.	829	Q9BVG8	KIFC3_HUMAN	W	829	ENSP00000368976:R829W	ENSP00000368976:R829W	R	-	1	2	KIFC3	56350314	0.889000	0.30405	0.494000	0.27515	0.090000	0.18270	1.244000	0.32778	0.624000	0.30286	-0.749000	0.03505	CGG	KIFC3-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000432168.1		-	ENST00000543930.1	3'UTR	SNP	16 : 57792813 - 57792813 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	277	47
DNAH3	55567	broad.mit.edu	37	16	20976326	20976326	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20976326G>T	ENST00000261383.3	-	53	8879	c.8880C>A	c.(8878-8880)tgC>tgA	p.C2960*	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2960	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCTTTTGGGAGCAGATTTCAA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	146	148			NA	NA	16		NA											NA				20976326		2201	4300	6501	SO:0001587	stop_gained			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486	55567	55567		Axonemal dyneins	2949	protein-coding gene	gene with protein product		603334	dynein, axonemal, heavy polypeptide 3		NA	9256245, 9373155	Standard	NM_017539	NM_017539	NA	Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.8880C>A	16.37:g.20976326G>T	ENSP00000261383:p.Cys2960*	NA	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	46	12.098613	0.99636	.	.	ENSG00000158486	ENST00000261383	.	.	.	5.93	-0.998	0.10212	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9877	0.47530	0.4789:0.0:0.5211:0.0	.	.	.	.	X	2960	.	ENSP00000261383:C2960X	C	-	3	2	DNAH3	20883827	0.989000	0.36119	0.892000	0.35008	0.016000	0.09150	0.209000	0.17435	-0.384000	0.07845	-0.136000	0.14681	TGC	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207361.1		-	ENST00000261383.3	Nonsense_Mutation	SNP	16 : 20976326 - 20976326 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	750	179
ST5	6764	broad.mit.edu	37	11	8747727	8747727	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8747727C>T	ENST00000534127.1	-	7	1755	c.1370G>A	c.(1369-1371)aGt>aAt	p.S457N	ST5_ENST00000530438.1_Missense_Mutation_p.S37N|ST5_ENST00000313726.6_Missense_Mutation_p.S457N|ST5_ENST00000526757.1_Missense_Mutation_p.S37N|ST5_ENST00000357665.1_Missense_Mutation_p.S457N	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	457					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GGACTGGAGACTGGATGCATC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	125	129			NA	NA	11		NA											NA				8747727		2201	4296	6497	SO:0001583	missense			U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444	6764	6764		DENN/MADD domain containing	11350	protein-coding gene	gene with protein product	DENN/MADD domain containing 2B	140750			NA	1390339	Standard	NM_005418	NM_005418	NA	Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1370G>A	11.37:g.8747727C>T	ENSP00000433528:p.Ser457Asn	NA	B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	37	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640994	0.87859	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000357665;ENST00000530438;ENST00000447053;ENST00000528196;ENST00000527510;ENST00000530580;ENST00000531093;ENST00000533225;ENST00000526126	T;T;T;T;T	0.08634	3.07;3.41;3.41;3.41;3.07	5.92	5.92	0.95590	.	0.169793	0.64402	D	0.000004	T	0.19765	0.0475	L	0.46157	1.445	0.80722	D	1	D;P	0.54772	0.968;0.915	P;B	0.54889	0.763;0.397	T	0.00019	-1.2358	10	0.45353	T	0.12	-10.4636	20.3207	0.98668	0.0:1.0:0.0:0.0	.	37;457	P78524-2;P78524	.;ST5_HUMAN	N	37;457;457;457;37;67;37;37;37;37;37;37	ENSP00000435097:S37N;ENSP00000433528:S457N;ENSP00000319678:S457N;ENSP00000350294:S457N;ENSP00000436802:S37N	ENSP00000319678:S457N	S	-	2	0	ST5	8704303	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.487000	0.81328	2.813000	0.96785	0.561000	0.74099	AGT	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386518.1		-	ENST00000534127.1	Missense_Mutation	SNP	11 : 8747727 - 8747727 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	81
C12orf40	283461	broad.mit.edu	37	12	40044117	40044117	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40044117A>C	ENST00000324616.5	+	7	801	c.647A>C	c.(646-648)aAa>aCa	p.K216T	C12orf40_ENST00000398716.1_Missense_Mutation_p.K139T|C12orf40_ENST00000405531.3_Missense_Mutation_p.K216T	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	216										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						CCATCACATAAAACTACACGA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	69	71			NA	NA	12		NA											NA				40044117		1811	4070	5881	SO:0001583	missense			AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116	283461	283461			26846	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_173599	XM_005268806	NA	Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.647A>C	12.37:g.40044117A>C	ENSP00000317671:p.Lys216Thr	NA	B7WNU1|Q8IXY6|Q8N818	37	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	A	7.345	0.621738	0.14193	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.45276	0.9;0.91	3.53	2.34	0.29019	.	1.135250	0.06734	N	0.777242	T	0.29061	0.0722	N	0.19112	0.55	0.09310	N	1	B	0.20671	0.047	B	0.16289	0.015	T	0.27331	-1.0077	10	0.62326	D	0.03	.	7.0939	0.25299	0.7708:0.2292:0.0:0.0	.	216	Q86WS4	CL040_HUMAN	T	216;139;216	ENSP00000383897:K216T;ENSP00000317671:K216T	ENSP00000317671:K216T	K	+	2	0	C12orf40	38330384	0.000000	0.05858	0.001000	0.08648	0.051000	0.14879	0.391000	0.20784	0.688000	0.31529	0.528000	0.53228	AAA	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257664.2		+	ENST00000324616.5	Missense_Mutation	SNP	12 : 40044117 - 40044117 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	108	20
TMCO1	54499	broad.mit.edu	37	1	165712439	165712439	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:165712439A>C	ENST00000580248.1	-	8	883	c.181T>G	c.(181-183)Ttc>Gtc	p.F61V	TMCO1_ENST00000464650.1_Missense_Mutation_p.F61V|TMCO1_ENST00000392129.6_Missense_Mutation_p.F145V|TMCO1_ENST00000367881.5_Missense_Mutation_p.F196V			Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1	145						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					ATATACAGGAAAATGAAGGAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	92	93			NA	NA	1		NA											NA				165712439		2203	4300	6503	SO:0001583	missense			AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183	54499	54499			18188	protein-coding gene	gene with protein product		614123	transmembrane and coiled-coil domains 4	TMCC4	NA	8619474, 9110174	Standard	NM_019026	NM_019026	NA	Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000580248.1:c.181T>G	1.37:g.165712439A>C	ENSP00000462588:p.Phe61Val	NA	B2REA0|O75545|Q9BZS3|Q9BZU8	37		.	.	.	.	.	.	.	.	.	.	A	27.0	4.792056	0.90453	.	.	ENSG00000143183	ENST00000367881;ENST00000392129	.	.	.	6.17	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.77685	0.4167	M	0.93594	3.435	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82989	-0.0183	8	0.51188	T	0.08	.	10.3335	0.43837	0.9235:0.0:0.0765:0.0	.	133;145	B7Z591;Q9UM00	.;TMCO1_HUMAN	V	145;126	.	ENSP00000356856:F145V	F	-	1	0	TMCO1	163979063	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	8.827000	0.92041	1.160000	0.42584	0.533000	0.62120	TTC	TMCO1-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000444422.1		-	ENST00000580248.1	Missense_Mutation	SNP	1 : 165712439 - 165712439 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	382	68
IFIT1	3434	broad.mit.edu	37	10	91162883	91162883	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91162883C>T	ENST00000371804.3	+	2	1018	c.851C>T	c.(850-852)tCt>tTt	p.S284F	IFIT1_ENST00000546318.1_Missense_Mutation_p.S253F|LIPA_ENST00000371837.1_Intron	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	284					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						ACACCCACTTCTGTCTTACTG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	73	72			NA	NA	10		NA											NA				91162883		2203	4300	6503	SO:0001583	missense			M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745	3434	3434		Tetratricopeptide (TTC) repeat domain containing	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1	NA	1377167, 3360121	Standard	NM_001548	NM_001548	NA	Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.851C>T	10.37:g.91162883C>T	ENSP00000360869:p.Ser284Phe	NA	Q96QM5	37	CCDS31243.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294559	0.60086	.	.	ENSG00000185745	ENST00000371804;ENST00000546318	T;T	0.73897	-0.79;-0.79	5.62	5.62	0.85841	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.212698	0.40144	N	0.001177	D	0.87095	0.6092	M	0.89095	3.005	0.45899	D	0.998747	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.83615	0.0136	10	0.07482	T	0.82	.	19.01	0.92870	0.0:1.0:0.0:0.0	.	284;284	Q5T7J1;P09914	.;IFIT1_HUMAN	F	284;253	ENSP00000360869:S284F;ENSP00000441968:S253F	ENSP00000360869:S284F	S	+	2	0	IFIT1	91152863	0.915000	0.31059	0.095000	0.20976	0.446000	0.32137	3.195000	0.51013	2.791000	0.96007	0.650000	0.86243	TCT	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049302.1		+	ENST00000371804.3	Missense_Mutation	SNP	10 : 91162883 - 91162883 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	561	94
SELE	6401	broad.mit.edu	37	1	169695051	169695051	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169695051G>A	ENST00000333360.7	-	12	1911	c.1772C>T	c.(1771-1773)gCc>gTc	p.A591V	SELE_ENST00000367781.4_Missense_Mutation_p.A528V|SELE_ENST00000367774.1_Missense_Mutation_p.A465V|SELE_ENST00000367776.1_Missense_Mutation_p.A528V|SELE_ENST00000367782.4_Missense_Mutation_p.A528V|SELE_ENST00000367777.1_Missense_Mutation_p.A528V|SELE_ENST00000367780.4_Missense_Mutation_p.A466V|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367779.4_Missense_Mutation_p.A465V|SELE_ENST00000367775.1_Missense_Mutation_p.A466V	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	591					actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					AACTTACCTGGCAGGAACAAA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	72	73			NA	NA	1		NA											NA				169695051		2203	4300	6503	SO:0001583	missense			M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908	6401	6401		CD molecules	10718	protein-coding gene	gene with protein product		131210	endothelial adhesion molecule 1	ELAM1, ELAM	NA	1375831	Standard	NM_000450	NM_000450	NA	Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.1772C>T	1.37:g.169695051G>A	ENSP00000331736:p.Ala591Val	NA	A2RRD6|P16111	37	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.226299	0.39300	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	T;T;T;T;T;T;T;T;T	0.21734	2.06;1.99;2.23;2.01;2.07;1.99;2.23;2.06;2.01	4.9	3.96	0.45880	.	0.482787	0.15520	N	0.258107	T	0.08714	0.0216	M	0.68952	2.095	0.22684	N	0.998856	P	0.45126	0.851	B	0.33339	0.162	T	0.08229	-1.0732	10	0.41790	T	0.15	.	10.6767	0.45789	0.0:0.0:0.8087:0.1913	.	591	P16581	LYAM2_HUMAN	V	528;528;466;465;591;528;466;528;465	ENSP00000356755:A528V;ENSP00000356756:A528V;ENSP00000356754:A466V;ENSP00000356753:A465V;ENSP00000331736:A591V;ENSP00000356751:A528V;ENSP00000356749:A466V;ENSP00000356750:A528V;ENSP00000356748:A465V	ENSP00000331736:A591V	A	-	2	0	SELE	167961675	0.947000	0.32204	0.880000	0.34516	0.545000	0.35147	2.955000	0.49121	1.152000	0.42452	0.650000	0.86243	GCC	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084333.1		-	ENST00000333360.7	Missense_Mutation	SNP	1 : 169695051 - 169695051 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	297	46
ZIC4	84107	broad.mit.edu	37	3	147114031	147114031	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147114031C>T	ENST00000491672.1	-	3	513				ZIC4_ENST00000425731.3_Missense_Mutation_p.G137E|ZIC4_ENST00000383075.3_Missense_Mutation_p.G99E|ZIC4_ENST00000525172.2_Missense_Mutation_p.G149E|ZIC4_ENST00000473123.1_Missense_Mutation_p.G99E|ZIC4_ENST00000484399.1_Missense_Mutation_p.G99E	NM_001243256.1	NP_001230185.1	Q8N9L1	ZIC4_HUMAN	Zic family member 4	NA						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GTTCATGCCCCCGTAGCCATG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	22	20			NA	NA	3		NA											NA				147114031		2147	4266	6413	SO:0001627	intron_variant			AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963	84107	84107		Zinc fingers, C2H2-type	20393	protein-coding gene	gene with protein product		608948	zinc finger protein of the cerebellum 4		NA		Standard		NM_001168378	NA	Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000491672.1:c.71-4998G>A	3.37:g.147114031C>T		NA	A0AVA2|B2RMQ8|Q4G157|Q9BZ94	37	CCDS58857.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902339	0.92035	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748	T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98	4.98	4.98	0.66077	.	0.000000	0.47093	D	0.000258	T	0.59445	0.2194	M	0.68593	2.085	0.80722	D	1	D;D	0.55605	0.972;0.972	P;P	0.57009	0.621;0.811	T	0.64158	-0.6473	10	0.66056	D	0.02	.	18.2471	0.89989	0.0:1.0:0.0:0.0	.	149;99	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	E	99;137;149;99;99;99	ENSP00000372553:G99E;ENSP00000397695:G137E;ENSP00000435509:G149E;ENSP00000417855:G99E;ENSP00000420775:G99E;ENSP00000420627:G99E	ENSP00000372553:G99E	G	-	2	0	ZIC4	148596721	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.487000	0.81328	2.299000	0.77371	0.561000	0.74099	GGG	ZIC4-009	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355512.1		-	ENST00000491672.1	Intron	SNP	3 : 147114031 - 147114031 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	171	46
PDK2	5164	broad.mit.edu	37	17	48185696	48185696	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48185696C>T	ENST00000007708.3	+	9	975	c.584C>T	c.(583-585)gCg>gTg	p.A195V	PDK2_ENST00000503176.1_Missense_Mutation_p.A259V	NM_001199898.1|NM_001199899.1	NP_001186827.1|NP_001186828.1	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	259	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						GCCATGAGGGCGACTGTGGAA	0.587		NA							Autosomal Dominant Polycystic Kidney Disease					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	69	72			NA	NA	17		NA											NA				48185696		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	ADPKD	L42451	CCDS11559.1, CCDS56039.1	17q21.33	2012-07-18	2005-11-16		ENSG00000005882	ENSG00000005882	5164	5164			8810	protein-coding gene	gene with protein product		602525	pyruvate dehydrogenase kinase, isoenzyme 2		NA	7499431	Standard	NM_002611	NM_001199898	NA	Approved	PDHK2	uc002iqc.3	Q15119	OTTHUMG00000161948	ENST00000007708.3:c.584C>T	17.37:g.48185696C>T	ENSP00000007708:p.Ala195Val	NA	A8K3A7|Q6P515|Q9BS05	37	CCDS56039.1	.	.	.	.	.	.	.	.	.	.	C	34	5.330950	0.95733	.	.	ENSG00000005882	ENST00000007708;ENST00000503176;ENST00000503614	T;T;T	0.58210	0.35;0.35;0.35	4.61	4.61	0.57282	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.124501	0.53938	D	0.000055	D	0.82582	0.5068	H	0.99011	4.4	0.80722	D	1	D	0.76494	0.999	D	0.64237	0.923	D	0.90403	0.4404	10	0.87932	D	0	-6.9618	16.633	0.85039	0.0:1.0:0.0:0.0	.	259	Q15119	PDK2_HUMAN	V	195;259;195	ENSP00000007708:A195V;ENSP00000420927:A259V;ENSP00000425265:A195V	ENSP00000007708:A195V	A	+	2	0	PDK2	45540695	1.000000	0.71417	0.471000	0.27229	0.867000	0.49689	7.734000	0.84928	2.289000	0.77006	0.555000	0.69702	GCG	PDK2-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366494.1		+	ENST00000007708.3	Missense_Mutation	SNP	17 : 48185696 - 48185696 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	163	38
ATRNL1	26033	broad.mit.edu	37	10	117026306	117026306	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:117026306T>C	ENST00000355044.3	+	12	1931	c.1805T>C	c.(1804-1806)gTa>gCa	p.V602A		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	602						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTTTCTAGTGTACTCCTTAAT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	83	80			NA	NA	10		NA											NA				117026306		2203	4300	6503	SO:0001583	missense			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518	26033	26033			29063	protein-coding gene	gene with protein product		612869			NA	9628581	Standard	XM_049349	NM_001276282	NA	Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.1805T>C	10.37:g.117026306T>C	ENSP00000347152:p.Val602Ala	NA	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	37	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	T	15.92	2.975012	0.53720	.	.	ENSG00000107518	ENST00000355044	T	0.29397	1.57	5.77	5.77	0.91146	Kelch-type beta propeller (1);	0.053328	0.64402	D	0.000001	T	0.26557	0.0649	L	0.36672	1.1	0.80722	D	1	B	0.26975	0.165	B	0.28385	0.089	T	0.05632	-1.0873	10	0.16896	T	0.51	-20.4802	16.0865	0.81056	0.0:0.0:0.0:1.0	.	602	Q5VV63	ATRN1_HUMAN	A	602	ENSP00000347152:V602A	ENSP00000347152:V602A	V	+	2	0	ATRNL1	117016296	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	5.782000	0.68973	2.194000	0.70268	0.377000	0.23210	GTA	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050507.3		+	ENST00000355044.3	Missense_Mutation	SNP	10 : 117026306 - 117026306 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	369	13
PRKAR1B	5575	broad.mit.edu	37	7	720210	720210	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:720210C>T	ENST00000406797.1	-	3	505	c.331G>A	c.(331-333)Gtg>Atg	p.V111M	PRKAR1B_ENST00000360274.4_Missense_Mutation_p.V111M|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.V111M|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.V111M|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.V111M	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	111	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		ACGTAGGACACGGCGTCCTCC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	40	41			NA	NA	7		NA											NA				720210		2203	4300	6503	SO:0001583	missense			M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	5575	5575	2.7.11.1		9390	protein-coding gene	gene with protein product		176911			NA	1358799, 3479018	Standard		NM_002735	NA	Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.331G>A	7.37:g.720210C>T	ENSP00000385749:p.Val111Met	NA	Q8N422	37	CCDS34579.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.447981	0.43429	.	.	ENSG00000188191	ENST00000537384;ENST00000544935;ENST00000406797;ENST00000403562;ENST00000360274;ENST00000430040;ENST00000414568;ENST00000417852	D;D;D;D;D;D;D;D	0.92495	-2.04;-2.04;-2.04;-2.04;-2.04;-3.04;-1.89;-3.05	4.91	4.91	0.64330	Cyclic nucleotide-binding-like (1);	0.089401	0.44688	U	0.000437	D	0.86969	0.6061	L	0.29908	0.895	0.58432	D	0.999998	P	0.39551	0.678	B	0.33890	0.172	D	0.87960	0.2729	10	0.49607	T	0.09	-21.7663	18.0789	0.89436	0.0:1.0:0.0:0.0	.	111	P31321	KAP1_HUMAN	M	111;111;111;111;111;111;56;111	ENSP00000440449:V111M;ENSP00000444487:V111M;ENSP00000385749:V111M;ENSP00000385349:V111M;ENSP00000353415:V111M;ENSP00000402648:V111M;ENSP00000394633:V56M;ENSP00000406670:V111M	ENSP00000353415:V111M	V	-	1	0	PRKAR1B	686736	1.000000	0.71417	0.850000	0.33497	0.099000	0.18886	7.101000	0.76997	2.271000	0.75665	0.561000	0.74099	GTG	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322525.1		-	ENST00000406797.1	Missense_Mutation	SNP	7 : 720210 - 720210 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	235	39
PARP6	56965	broad.mit.edu	37	15	72551961	72551961	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72551961T>C	ENST00000569795.1	-	11	1485	c.798A>G	c.(796-798)ggA>ggG	p.G266G	PARP6_ENST00000260376.7_Silent_p.G266G|PARP6_ENST00000287196.9_Silent_p.G266G|PARP6_ENST00000413097.2_5'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	266							NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						GAACGAGGAATCCATACTCCA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													295	289	291			NA	NA	15		NA											NA				72551961		1921	4136	6057	SO:0001819	synonymous_variant			AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817	56965	56965		Poly (ADP-ribose) polymerases	26921	protein-coding gene	gene with protein product					NA	15273990	Standard	NM_020214	XM_005254557	NA	Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.798A>G	15.37:g.72551961T>C		NA	Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	37	CCDS10241.2																																																																																			PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257315.2		-	ENST00000569795.1	Silent	SNP	15 : 72551961 - 72551961 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1542	294
EFCAB5	374786	broad.mit.edu	37	17	28435016	28435016	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28435016C>T	ENST00000394835.3	+	23	4678	c.4486C>T	c.(4486-4488)Cca>Tca	p.P1496S	EFCAB5_ENST00000320856.5_Missense_Mutation_p.P1372S|EFCAB5_ENST00000394832.2_Missense_Mutation_p.P968S|RP11-1148O4.2_ENST00000582938.1_RNA	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1496							calcium ion binding	p.P1496A(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TGCAAAAATGCCAGGGGAAGG	0.353		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)											152	141	145			NA	NA	17		NA											NA				28435016		1862	4103	5965	SO:0001583	missense			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927	374786	374786		EF-hand domain containing	24801	protein-coding gene	gene with protein product					NA		Standard	NM_198529	NM_198529	NA	Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.4486C>T	17.37:g.28435016C>T	ENSP00000378312:p.Pro1496Ser	NA	B2RPN0|Q0VD68|Q6ZRM6|Q8NDG9	37	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	C	18.17	3.565278	0.65651	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000394832;ENST00000419434	T;T;T;T	0.17213	3.03;3.02;2.29;3.03	4.69	2.08	0.27032	.	0.142981	0.31648	N	0.007295	T	0.14399	0.0348	L	0.51422	1.61	0.09310	N	1	B;B;B	0.24368	0.102;0.046;0.1	B;B;B	0.30105	0.066;0.038;0.111	T	0.15636	-1.0430	10	0.38643	T	0.18	-8.3039	4.662	0.12646	0.0:0.6342:0.2002:0.1656	.	968;1372;1496	B5MEA3;E7EVS9;A4FU69	.;.;EFCB5_HUMAN	S	1496;1372;968;1178	ENSP00000378312:P1496S;ENSP00000322003:P1372S;ENSP00000378309:P968S;ENSP00000417009:P1178S	ENSP00000322003:P1372S	P	+	1	0	EFCAB5	25459142	0.976000	0.34144	0.273000	0.24645	0.719000	0.41307	0.606000	0.24194	0.859000	0.35456	0.655000	0.94253	CCA	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256120.4		+	ENST00000394835.3	Missense_Mutation	SNP	17 : 28435016 - 28435016 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	580	99
ZNF10	7556	broad.mit.edu	37	12	133732818	133732818	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133732818C>A	ENST00000248211.6	+	5	1208	c.986C>A	c.(985-987)tCc>tAc	p.S329Y	ZNF268_ENST00000416488.1_Intron|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000402932.2_Missense_Mutation_p.S195Y|ZNF10_ENST00000426665.2_Missense_Mutation_p.S329Y	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TGTGGAAAATCCTTCAGCTGG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	104	102			NA	NA	12		NA											NA				133732818		2203	4300	6503	SO:0001583	missense			X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223	7556	7556		Zinc fingers, C2H2-type, -	12879	protein-coding gene	gene with protein product		194538	zinc finger protein 10 (KOX 1)		NA	7865130, 8262519	Standard	NM_015394	NM_015394	NA	Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.986C>A	12.37:g.133732818C>A	ENSP00000248211:p.Ser329Tyr	NA	B2RBS1|Q8TC91	37	CCDS9283.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.370099	0.24771	.	.	ENSG00000256223	ENST00000248211;ENST00000426665;ENST00000402932	T;T;T	0.51574	0.7;0.7;3.1	3.92	1.81	0.25067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.902656	0.09051	N	0.855773	T	0.44222	0.1283	L	0.54323	1.7	0.19300	N	0.999971	B	0.30664	0.289	B	0.30401	0.115	T	0.34625	-0.9821	9	.	.	.	.	12.4812	0.55844	0.0:0.3598:0.6402:0.0	.	329	P21506	ZNF10_HUMAN	Y	329;329;195	ENSP00000248211:S329Y;ENSP00000393814:S329Y;ENSP00000384893:S195Y	.	S	+	2	0	ZNF10	132242891	0.000000	0.05858	0.298000	0.25002	0.978000	0.69477	0.657000	0.24963	0.917000	0.36895	0.655000	0.94253	TCC	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397182.1		+	ENST00000248211.6	Missense_Mutation	SNP	12 : 133732818 - 133732818 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	482	84
AK7	122481	broad.mit.edu	37	14	96871122	96871122	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96871122G>A	ENST00000267584.4	+	3	367	c.323G>A	c.(322-324)cGc>cAc	p.R108H	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	108					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CTTCTCATGCGCCTGCTGGAG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	87	89			NA	NA	14		NA											NA				96871122		2203	4300	6503	SO:0001583	missense			AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057	122481	122481		Adenylate kinases	20091	protein-coding gene	gene with protein product		615364			NA		Standard		NM_152327	NA	Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.323G>A	14.37:g.96871122G>A	ENSP00000267584:p.Arg108His	NA	Q8IYP6	37	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	G	2.046	-0.418996	0.04766	.	.	ENSG00000140057	ENST00000267584	T	0.46451	0.87	5.35	-1.88	0.07713	.	0.693376	0.14912	N	0.291158	T	0.21145	0.0509	N	0.16098	0.37	0.19575	N	0.999968	B	0.02656	0.0	B	0.04013	0.001	T	0.27640	-1.0068	10	0.12430	T	0.62	-5.7225	11.7457	0.51819	0.4671:0.0:0.5329:0.0	.	108	Q96M32	KAD7_HUMAN	H	108	ENSP00000267584:R108H	ENSP00000267584:R108H	R	+	2	0	AK7	95940875	0.000000	0.05858	0.003000	0.11579	0.155000	0.21991	-0.006000	0.12833	-0.217000	0.10033	0.467000	0.42956	CGC	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413340.1		+	ENST00000267584.4	Missense_Mutation	SNP	14 : 96871122 - 96871122 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	267	45
FRMPD2	143162	broad.mit.edu	37	10	49446033	49446033	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:49446033C>T	ENST00000374201.3	-	8	1224		c.e8+1		FRMPD2_ENST00000305531.3_Splice_Site|FRMPD2_ENST00000407470.4_Splice_Site	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	NA					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		ATTTTGCTTACCTTGCTCCTT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	126	126			NA	NA	10		NA											NA				49446033		2203	4300	6503	SO:0001630	splice_region_variant			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324	143162	143162			28572	protein-coding gene	gene with protein product		613323	PDZ domain containing 5C	PDZD5C, PDZK5C	NA		Standard	NM_152428	NM_001018071	NA	Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.921+1G>A	10.37:g.49446033C>T		NA	B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	37	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.609163	0.28623	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	.	.	.	4.18	4.18	0.49190	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7138	0.57103	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FRMPD2	49116039	1.000000	0.71417	1.000000	0.80357	0.245000	0.25701	3.079000	0.50104	2.268000	0.75426	0.462000	0.41574	.	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047923.3	Intron	-	ENST00000374201.3	Splice_Site	SNP	10 : 49446033 - 49446033 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	979	189
NEK8	284086	broad.mit.edu	37	17	27067558	27067558	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27067558C>T	ENST00000268766.6	+	11	1529	c.1495C>T	c.(1495-1497)Cga>Tga	p.R499*	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	499						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GGAAGCTCAGCGAGTTGTATG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(6;19 293 14866 25253 49845)							NA				0													119	109	112			NA	NA	17		NA											NA				27067558		2203	4300	6503	SO:0001587	stop_gained			AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602	284086	284086			13387	protein-coding gene	gene with protein product		609799	NIMA (never in mitosis gene a)- related kinase 8		NA	18199800	Standard		NM_178170	NA	Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.1495C>T	17.37:g.27067558C>T	ENSP00000268766:p.Arg499*	NA	A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	37	CCDS32597.1	.	.	.	.	.	.	.	.	.	.	C	33	5.219461	0.95139	.	.	ENSG00000160602	ENST00000268766	.	.	.	5.56	-1.1	0.09872	.	0.051240	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.429	0.44395	0.6412:0.2843:0.0:0.0745	.	.	.	.	X	499	.	ENSP00000268766:R499X	R	+	1	2	NEK8	24091685	0.961000	0.32948	0.929000	0.37066	0.977000	0.68977	0.124000	0.15728	-0.021000	0.14009	0.555000	0.69702	CGA	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000446467.2		+	ENST00000268766.6	Nonsense_Mutation	SNP	17 : 27067558 - 27067558 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	647	46
DLX6	1750	broad.mit.edu	37	7	96639182	96639182	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:96639182C>T	ENST00000518156.2	+	3	1135	c.705C>T	c.(703-705)agC>agT	p.S235S	DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6_ENST00000555308.1_Silent_p.S107S|DLX6_ENST00000007660.5_Silent_p.S207S|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000452769.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	117					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CTCATGAGAGCGACCCCCTCC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4199		0,1,2099	55	58	57		705	-5.5	0.7	7		57	1,8497		0,1,4248	no	coding-synonymous	DLX6	NM_005222.3		0,2,6347	TT,TC,CC	NA	0.0118,0.0238,0.0158		235/294	96639182	2,12696	2100	4249	6349	SO:0001819	synonymous_variant				CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377	1750	1750		Homeoboxes / ANTP class : NKL subclass	2919	protein-coding gene	gene with protein product		600030	distal-less homeo box 6		NA	7907794	Standard	NM_005222	NM_005222	NA	Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.705C>T	7.37:g.96639182C>T		NA	A4D1I2|B3KSQ0|Q3ZAR6|Q9UPL2	37	CCDS47647.2																																																																																			DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334373.4		+	ENST00000518156.2	Silent	SNP	7 : 96639182 - 96639182 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	396	96
DIRAS1	148252	broad.mit.edu	37	19	2717568	2717568	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2717568G>A	ENST00000323469.4	-	2	420	c.237C>T	c.(235-237)ggC>ggT	p.G79G	DIRAS1_ENST00000585334.1_Silent_p.G79G	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	79					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	p.G79G(1)		kidney(1)|lung(2)|ovary(2)|prostate(1)	6				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)		TGAAGGCGTGGCCCTTGGAGA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	ovary(1)											70	58	62			NA	NA	19		NA											NA				2717568		2201	4299	6500	SO:0001819	synonymous_variant			BC030660	CCDS12092.1	19p13.3	2014-05-09				ENSG00000176490	NA	148252			19127	protein-coding gene	gene with protein product		607862			NA	12107278	Standard		NM_145173	NA	Approved	Di-Ras1, GBTS1, RIG	uc002lwf.3	O95057		ENST00000323469.4:c.237C>T	19.37:g.2717568G>A		NA		37	CCDS12092.1																																																																																			DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451350.1		-	ENST00000323469.4	Silent	SNP	19 : 2717568 - 2717568 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	269	55
ZNF91	7644	broad.mit.edu	37	19	23545395	23545395	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23545395A>G	ENST00000300619.7	-	4	591	c.386T>C	c.(385-387)gTg>gCg	p.V129A	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.V97A	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	129						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				NA		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				ACACTCATCCACACTTTTACA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	80	78			NA	NA	19		NA											NA				23545395		2154	4280	6434	SO:0001583	missense			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232	7644	7644		Zinc fingers, C2H2-type, -	13166	protein-coding gene	gene with protein product		603971	zinc finger protein 91 (HPF7, HTF10)		NA	2023909, 2505992	Standard	NM_003430	XR_430154	NA	Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.386T>C	19.37:g.23545395A>G	ENSP00000300619:p.Val129Ala	NA	A8K5E1|B7Z6G6	37	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	A	0.109	-1.140824	0.01728	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.05996	3.44;3.36	0.987	0.987	0.19790	.	.	.	.	.	T	0.16257	0.0391	M	0.87269	2.87	0.09310	N	1	B;D	0.69078	0.178;0.997	B;D	0.63283	0.108;0.913	T	0.29882	-0.9997	9	0.05525	T	0.97	.	4.0615	0.09841	1.0:0.0:0.0:0.0	.	97;129	Q05481-2;Q05481	.;ZNF91_HUMAN	A	129;97	ENSP00000300619:V129A;ENSP00000380272:V97A	ENSP00000300619:V129A	V	-	2	0	ZNF91	23337235	0.001000	0.12720	0.017000	0.16124	0.336000	0.28762	1.320000	0.33666	0.368000	0.24481	0.147000	0.16070	GTG	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465891.1		-	ENST00000300619.7	Missense_Mutation	SNP	19 : 23545395 - 23545395 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	441	69
HTRA3	94031	broad.mit.edu	37	4	8288479	8288479	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8288479C>T	ENST00000307358.2	+	3	881	c.677C>T	c.(676-678)tCg>tTg	p.S226L	HTRA3_ENST00000382512.3_Missense_Mutation_p.S226L	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	226	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						GACAAGAAGTCGGACATTGCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	61	65			NA	NA	4		NA											NA				8288479		2203	4300	6503	SO:0001583	missense			AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801	94031	94031			30406	protein-coding gene	gene with protein product	pregnancy-related serine protease	608785			NA	12513693, 14500695	Standard	NM_053044	XM_005248040	NA	Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.677C>T	4.37:g.8288479C>T	ENSP00000303766:p.Ser226Leu	NA	Q7Z7A2	37	CCDS3400.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612385	0.28712	.	.	ENSG00000170801	ENST00000307358;ENST00000382512	D;D	0.86030	-2.06;-2.06	4.08	3.23	0.37069	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.64402	D	0.000002	T	0.77758	0.4178	L	0.39692	1.235	0.80722	D	1	B;B	0.19583	0.002;0.037	B;B	0.17098	0.006;0.017	T	0.69435	-0.5146	10	0.27785	T	0.31	-14.0686	11.5947	0.50966	0.0:0.9107:0.0:0.0893	.	226;226	P83110;P83110-2	HTRA3_HUMAN;.	L	226	ENSP00000303766:S226L;ENSP00000371952:S226L	ENSP00000303766:S226L	S	+	2	0	HTRA3	8339379	0.999000	0.42202	0.764000	0.31436	0.731000	0.41821	4.413000	0.59795	0.707000	0.31934	0.462000	0.41574	TCG	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092669.1		+	ENST00000307358.2	Missense_Mutation	SNP	4 : 8288479 - 8288479 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	12
PRPSAP1	5635	broad.mit.edu	37	17	74324894	74324894	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74324894C>A	ENST00000446526.3	-	7	1130	c.685G>T	c.(685-687)Ggg>Tgg	p.G229W	PRPSAP1_ENST00000324684.4_Missense_Mutation_p.G126W	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	200					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						TGAGCTTCCCCGTGAATGACG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	84	96			NA	NA	17		NA											NA				74324894		2203	4300	6503	SO:0001583	missense			D61391	CCDS11743.2	17q24-q25	2008-07-18			ENSG00000161542	ENSG00000161542	5635	5635			9466	protein-coding gene	gene with protein product		601249			NA	8660991	Standard	NM_002766	NM_002766	NA	Approved	PAP39	uc010wta.1	Q14558	OTTHUMG00000155969	ENST00000446526.3:c.685G>T	17.37:g.74324894C>A	ENSP00000414624:p.Gly229Trp	NA	B2R6M4|Q96H06	37	CCDS11743.2	.	.	.	.	.	.	.	.	.	.	C	34	5.358148	0.95854	.	.	ENSG00000161542	ENST00000446526;ENST00000324684;ENST00000435555;ENST00000436498	D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.93436	0.7906	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93677	0.6995	10	0.62326	D	0.03	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	200;229	Q14558;Q14558-2	KPRA_HUMAN;.	W	229;126;126;126	ENSP00000414624:G229W;ENSP00000314973:G126W;ENSP00000392838:G126W;ENSP00000387494:G126W	ENSP00000314973:G126W	G	-	1	0	PRPSAP1	71836489	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.861000	0.98227	0.655000	0.94253	GGG	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342480.2		-	ENST00000446526.3	Missense_Mutation	SNP	17 : 74324894 - 74324894 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	225	40
USH2A	7399	broad.mit.edu	37	1	216256823	216256823	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216256823T>G	ENST00000307340.3	-	26	5659	c.5273A>C	c.(5272-5274)aAc>aCc	p.N1758T	USH2A_ENST00000366943.2_Missense_Mutation_p.N1758T|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1758	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.N1758T(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCATCTTTGTTATAAACGAA	0.303		NA								HNSCC(13;0.011)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											95	99	97			NA	NA	1		NA											NA				216256823		2202	4299	6501	SO:0001583	missense			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781	7399	7399		Fibronectin type III domain containing	12601	protein-coding gene	gene with protein product	usherin	608400		USH2	NA	9624053, 10729113	Standard	NM_007123	NM_007123	NA	Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5273A>C	1.37:g.216256823T>G	ENSP00000305941:p.Asn1758Thr	NA	Q5VVM9|Q6S362|Q9NS27	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	17.21	3.331504	0.60853	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.79940	-1.32;-1.32	4.38	3.25	0.37280	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.48286	D	0.000186	D	0.86732	0.6003	M	0.73598	2.24	0.35285	D	0.781655	D	0.76494	0.999	D	0.69307	0.963	D	0.88206	0.2887	10	0.44086	T	0.13	.	9.8214	0.40885	0.0:0.0824:0.0:0.9176	.	1758	O75445	USH2A_HUMAN	T	1758	ENSP00000305941:N1758T;ENSP00000355910:N1758T	ENSP00000305941:N1758T	N	-	2	0	USH2A	214323446	1.000000	0.71417	0.946000	0.38457	0.929000	0.56500	2.642000	0.46596	0.656000	0.30886	0.533000	0.62120	AAC	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128138.1		-	ENST00000307340.3	Missense_Mutation	SNP	1 : 216256823 - 216256823 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	527	142
KIAA1644	85352	broad.mit.edu	37	22	44681381	44681381	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44681381G>A	ENST00000381176.4	-	4	658	c.526C>T	c.(526-528)Cca>Tca	p.P176S		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	176						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				ACGGCCTGTGGGGCTTGTGGC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	56	55			NA	NA	22		NA											NA				44681381		2054	4201	6255	SO:0001583	missense			AB051431	CCDS43025.1	22q13	2009-02-06	2009-02-06		ENSG00000138944	ENSG00000138944	85352	85352			29335	protein-coding gene	gene with protein product					NA	11258795	Standard	NM_001099294	NM_001099294	NA	Approved		uc003bet.2	Q3SXP7	OTTHUMG00000030991	ENST00000381176.4:c.526C>T	22.37:g.44681381G>A	ENSP00000370568:p.Pro176Ser	NA	A6NHP0|A9Z1Z0|Q3SXP8|Q5JZ71|Q9BYB5	37	CCDS43025.1	.	.	.	.	.	.	.	.	.	.	G	4.343	0.063153	0.08388	.	.	ENSG00000138944	ENST00000381176	.	.	.	5.06	2.83	0.33086	.	0.164918	0.39407	N	0.001376	T	0.15046	0.0363	N	0.03608	-0.345	0.30181	N	0.800376	B	0.06786	0.001	B	0.10450	0.005	T	0.20974	-1.0259	8	0.10377	T	0.69	-29.3991	5.7321	0.18047	0.1539:0.1923:0.6538:0.0	.	176	Q3SXP7	K1644_HUMAN	S	176	.	ENSP00000370568:P176S	P	-	1	0	KIAA1644	43012714	1.000000	0.71417	0.999000	0.59377	0.357000	0.29423	1.915000	0.39976	2.345000	0.79718	0.561000	0.74099	CCA	KIAA1644-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075879.2		-	ENST00000381176.4	Missense_Mutation	SNP	22 : 44681381 - 44681381 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	648	118
TMCO4	255104	broad.mit.edu	37	1	20009753	20009753	+	Missense_Mutation	SNP	G	G	A	rs144713907	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20009753G>A	ENST00000294543.6	-	16	1926	c.1685C>T	c.(1684-1686)aCc>aTc	p.T562I	TMCO4_ENST00000375122.2_Missense_Mutation_p.T522I|TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375127.1_Intron	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	562						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GGGACCCTGGGTTTGCCCAAC	0.667		NA											G	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0													60	65	63			NA	NA	1		NA											NA				20009753		2203	4300	6503	SO:0001583	missense				CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542	255104	255104			27393	protein-coding gene	gene with protein product					NA		Standard	NM_181719	NM_181719	NA	Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1685C>T	1.37:g.20009753G>A	ENSP00000294543:p.Thr562Ile	NA	Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	37	CCDS198.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.15	1.553797	0.27739	.	.	ENSG00000162542	ENST00000294543;ENST00000375122	T;T	0.32515	1.46;1.45	4.61	-0.938	0.10412	.	1.360170	0.05067	N	0.480974	T	0.17662	0.0424	L	0.27053	0.805	0.09310	N	1	P;B	0.36438	0.553;0.002	B;B	0.33042	0.157;0.005	T	0.12041	-1.0563	10	0.40728	T	0.16	-13.7287	1.5066	0.02487	0.1655:0.1313:0.3009:0.4022	.	562;522	Q5TGY1;Q5TGY1-2	TMCO4_HUMAN;.	I	562;522	ENSP00000294543:T562I;ENSP00000364264:T522I	ENSP00000294543:T562I	T	-	2	0	TMCO4	19882340	0.000000	0.05858	0.007000	0.13788	0.098000	0.18820	-0.220000	0.09215	-0.415000	0.07484	-0.140000	0.14226	ACC	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007658.1		-	ENST00000294543.6	Missense_Mutation	SNP	1 : 20009753 - 20009753 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	515	115
KIAA0226	9711	broad.mit.edu	37	3	197431564	197431564	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197431564G>A	ENST00000273582.5	-	4	677	c.132C>T	c.(130-132)agC>agT	p.S44S	KIAA0226_ENST00000389665.5_Silent_p.S104S|KIAA0226_ENST00000296343.5_Silent_p.S104S|KIAA0226_ENST00000467303.1_5'UTR|KIAA0226_ENST00000449205.1_Silent_p.S104S	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	104					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TCTCGTGCACGCTGATGAACT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(3;167 355 3763 15924)							NA				0													47	47	47			NA	NA	3		NA											NA				197431564		2109	4250	6359	SO:0001819	synonymous_variant			D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016	9711	9711			28991	protein-coding gene	gene with protein product	RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein	613516			NA	9039502, 19270693, 20826435	Standard	XM_032901	XM_005269374	NA	Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000273582.5:c.132C>T	3.37:g.197431564G>A		NA	Q96CK5	37	CCDS46987.1	.	.	.	.	.	.	.	.	.	.	G	2.423	-0.332689	0.05314	.	.	ENSG00000145016	ENST00000413360	.	.	.	5.84	4.75	0.60458	.	.	.	.	.	T	0.63943	0.2554	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61710	-0.7007	4	.	.	.	.	12.2711	0.54706	0.1033:0.0:0.8967:0.0	.	.	.	.	C	83	.	.	R	-	1	0	KIAA0226	198915961	1.000000	0.71417	0.480000	0.27341	0.202000	0.24057	3.885000	0.56182	1.123000	0.41961	0.643000	0.83706	CGT	KIAA0226-001	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340174.3		-	ENST00000273582.5	Silent	SNP	3 : 197431564 - 197431564 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	233	15
PCTP	58488	broad.mit.edu	37	17	53848535	53848535	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:53848535T>C	ENST00000576183.1	+	3	371	c.328T>C	c.(328-330)Tcc>Ccc	p.S110P	PCTP_ENST00000325214.6_Missense_Mutation_p.S38P|PCTP_ENST00000573500.1_Missense_Mutation_p.S110P|PCTP_ENST00000268896.5_Missense_Mutation_p.S110P			Q9UKL6	PPCT_HUMAN	phosphatidylcholine transfer protein	110	START.					cytosol	phosphatidylcholine binding|phosphatidylcholine transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10			BRCA - Breast invasive adenocarcinoma(1;0.00207)			TTTTCCCATGTCCAACAGAGA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	153	161			NA	NA	17		NA											NA				53848535		2203	4300	6503	SO:0001583	missense			AK024667	CCDS11588.1, CCDS45741.1	17q21-q24	2011-09-13				ENSG00000141179	58488	58488		StAR-related lipid transfer (START) domain containing	8752	protein-coding gene	gene with protein product	StAR-related lipid transfer (START) domain containing 2	606055			NA		Standard	NM_021213	NM_021213	NA	Approved	STARD2	uc002iul.4	Q9UKL6		ENST00000576183.1:c.328T>C	17.37:g.53848535T>C	ENSP00000459793:p.Ser110Pro	NA	Q9BSC9|Q9UIT3|Q9UKW7	37		.	.	.	.	.	.	.	.	.	.	T	16.68	3.191660	0.58017	.	.	ENSG00000141179	ENST00000268896;ENST00000417982;ENST00000325214	T;T	0.49720	0.77;0.77	5.19	4.12	0.48240	Lipid-binding START (3);START-like domain (1);	0.115303	0.64402	D	0.000010	T	0.48447	0.1500	M	0.86805	2.84	0.53688	D	0.99997	P	0.38280	0.625	B	0.33454	0.164	T	0.52109	-0.8619	10	0.52906	T	0.07	.	7.986	0.30212	0.0:0.0935:0.0:0.9065	.	110	Q9UKL6	PPCT_HUMAN	P	110;38;89	ENSP00000268896:S110P;ENSP00000415185:S38P	ENSP00000268896:S110P	S	+	1	0	PCTP	51203534	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	3.156000	0.50708	0.924000	0.37069	0.379000	0.24179	TCC	PCTP-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000439526.1		+	ENST00000576183.1	Missense_Mutation	SNP	17 : 53848535 - 53848535 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	472	80
NUP188	23511	broad.mit.edu	37	9	131763821	131763821	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131763821G>A	ENST00000372577.2	+	35	3878	c.3857G>A	c.(3856-3858)gGc>gAc	p.G1286D		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1286					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TGTGTCCTGGGCCTGCACCTG	0.612		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	9		NA											NA				131763821		2203	4300	6503	SO:0001583	missense			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319	23511	23511			17859	protein-coding gene	gene with protein product		615587	KIAA0169	KIAA0169	NA	11029043	Standard		NM_015354	NA	Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.3857G>A	9.37:g.131763821G>A	ENSP00000361658:p.Gly1286Asp	NA	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	37	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.180739	0.78677	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.65732	-0.17	5.27	5.27	0.74061	.	0.051262	0.85682	D	0.000000	T	0.69620	0.3131	M	0.65975	2.015	0.54753	D	0.999987	D;P	0.54397	0.966;0.952	P;P	0.49140	0.543;0.601	T	0.74657	-0.3592	10	0.72032	D	0.01	-6.8777	17.8614	0.88783	0.0:0.0:1.0:0.0	.	619;1286	E9PET9;Q5SRE5	.;NU188_HUMAN	D	1175;1286	ENSP00000361658:G1286D	ENSP00000349125:G1175D	G	+	2	0	NUP188	130803642	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.631000	0.74277	2.473000	0.83533	0.313000	0.20887	GGC	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054529.2		+	ENST00000372577.2	Missense_Mutation	SNP	9 : 131763821 - 131763821 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	335	39
MAP4K1	11184	broad.mit.edu	37	19	39087996	39087996	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39087996C>T	ENST00000591517.1	-	24	1835	c.1807G>A	c.(1807-1809)Gac>Aac	p.D603N	MAP4K1_ENST00000423454.2_3'UTR|MAP4K1_ENST00000586296.1_Intron|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000589130.1_Missense_Mutation_p.D599N|MAP4K1_ENST00000396857.2_Missense_Mutation_p.D603N	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	603	CNH.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCTTTGGTGTCCTGGATCTTG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	162	157			NA	NA	19		NA											NA				39087996		2094	4224	6318	SO:0001583	missense			U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	11184	11184	2.7.11.1	Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases	6863	protein-coding gene	gene with protein product	hematopoietic progenitor kinase 1	601983			NA	8824585	Standard	NM_001042600	NM_001042600	NA	Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1807G>A	19.37:g.39087996C>T	ENSP00000465039:p.Asp603Asn	NA		37	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	C	36	5.600510	0.96614	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	T	0.05447	3.44	5.25	4.21	0.49690	Citron-like (3);	0.235175	0.41097	D	0.000948	T	0.20455	0.0492	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.975;0.986	T	0.00420	-1.1750	10	0.54805	T	0.06	.	12.5387	0.56156	0.1672:0.8328:0.0:0.0	.	603;603	Q92918-2;Q92918	.;M4K1_HUMAN	N	603	ENSP00000380066:D603N	ENSP00000221409:D603N	D	-	1	0	MAP4K1	43779836	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.358000	0.66064	1.439000	0.47511	0.555000	0.69702	GAC	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453390.1		-	ENST00000591517.1	Missense_Mutation	SNP	19 : 39087996 - 39087996 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1708	299
USP17L2	377630	broad.mit.edu	37	8	11995503	11995503	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11995503A>G	ENST00000333796.3	-	1	1083	c.767T>C	c.(766-768)cTt>cCt	p.L256P	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	256					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CTGGAGACAAAGACCGCAATG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	20	19			NA	NA	8		NA											NA				11995503		1016	2394	3410	SO:0001583	missense			BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443	377630	377630			34434	protein-coding gene	gene with protein product	deubiquitinating enzyme 3	610186	ubiquitin specific peptidase 17-like 2		NA		Standard	NM_201402	NM_201402	NA	Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.767T>C	8.37:g.11995503A>G	ENSP00000333329:p.Leu256Pro	NA		37	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	A	0.881	-0.728608	0.03135	.	.	ENSG00000223443	ENST00000333796	T	0.05447	3.44	0.745	-1.49	0.08718	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	3.392720	0.01228	N	0.008280	T	0.04770	0.0129	N	0.17082	0.46	0.09310	N	0.999999	B	0.14438	0.01	B	0.20184	0.028	T	0.37979	-0.9682	10	0.49607	T	0.09	.	2.5944	0.04850	0.2721:0.3019:0.426:0.0	.	256	Q6R6M4	U17L2_HUMAN	P	256	ENSP00000333329:L256P	ENSP00000333329:L256P	L	-	2	0	USP17L2	12032912	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.357000	0.07651	-1.429000	0.01987	-1.661000	0.00750	CTT	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383303.2		-	ENST00000333796.3	Missense_Mutation	SNP	8 : 11995503 - 11995503 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	418	42
EIF4G3	8672	broad.mit.edu	37	1	21307591	21307591	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21307591G>T	ENST00000602326.1	-	7	764	c.181C>A	c.(181-183)Ctg>Atg	p.L61M	EIF4G3_ENST00000264211.8_Missense_Mutation_p.L54M|EIF4G3_ENST00000356916.3_Missense_Mutation_p.L65M|EIF4G3_ENST00000400422.1_Missense_Mutation_p.L54M|EIF4G3_ENST00000374927.4_Missense_Mutation_p.L54M|EIF4G3_ENST00000374935.3_Missense_Mutation_p.L54M|EIF4G3_ENST00000374937.3_Missense_Mutation_p.L61M	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	54					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	p.L54L(1)|p.L61L(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GGCATGGGCAGATGGTTAACC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - coding silent(2)	urinary_tract(2)											128	107	114			NA	NA	1		NA											NA				21307591		2203	4300	6503	SO:0001583	missense			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151	8672	8672			3298	protein-coding gene	gene with protein product		603929			NA	9418880	Standard	NM_003760	NM_001198801	NA	Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000602326.1:c.181C>A	1.37:g.21307591G>T	ENSP00000473510:p.Leu61Met	NA	Q15597|Q5SWC3|Q8NEN1	37	CCDS55580.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551763	0.65311	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000374937;ENST00000356916;ENST00000374927;ENST00000537059;ENST00000438975;ENST00000411888	T;T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91;1.91	5.83	4.92	0.64577	.	0.163224	0.41938	D	0.000784	T	0.40347	0.1113	L	0.36672	1.1	0.46542	D	0.999097	D;D;D;D;D;D	0.89917	1.0;0.999;0.978;1.0;0.999;0.998	D;D;P;D;D;D	0.91635	0.999;0.997;0.758;0.998;0.997;0.915	T	0.11131	-1.0600	10	0.33141	T	0.24	-7.9326	14.8028	0.69929	0.0693:0.0:0.9307:0.0	.	54;250;54;180;61;54	B4DXR2;Q59GJ0;Q504Z1;B1AN89;B9EGQ7;O43432	.;.;.;.;.;IF4G3_HUMAN	M	54;251;54;54;61;180;54;65;54;92	ENSP00000264211:L54M;ENSP00000383274:L54M;ENSP00000364071:L54M;ENSP00000364073:L61M;ENSP00000364062:L54M;ENSP00000395381:L54M;ENSP00000396083:L92M	ENSP00000264211:L54M	L	-	1	2	EIF4G3	21180178	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.480000	0.60243	1.464000	0.47987	0.555000	0.69702	CTG	EIF4G3-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000467634.1		-	ENST00000602326.1	Missense_Mutation	SNP	1 : 21307591 - 21307591 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	14
CBLL1	79872	broad.mit.edu	37	7	107399574	107399574	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107399574C>A	ENST00000440859.3	+	6	1894	c.1427C>A	c.(1426-1428)cCt>cAt	p.P476H	CBLL1_ENST00000222597.2_Missense_Mutation_p.P475H	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	NA	Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						ACCCCACTTCCTGGACCACAT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	140	138			NA	NA	7		NA											NA				107399574		2203	4300	6503	SO:0001583	missense			AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879	79872	79872		RING-type (C3HC4) zinc fingers	21225	protein-coding gene	gene with protein product	Casitas B-lineage lymphoma-like	606872	Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1		NA	11836526, 11944035	Standard	NM_024814	NM_001284291	NA	Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.1427C>A	7.37:g.107399574C>A	ENSP00000401277:p.Pro476His	NA	Q8TAJ4|Q9H5S6	37	CCDS5747.1	.	.	.	.	.	.	.	.	.	.	c	16.90	3.250236	0.59212	.	.	ENSG00000105879	ENST00000440859;ENST00000535365;ENST00000222597;ENST00000417616	T;T	0.37411	1.2;1.2	5.15	4.26	0.50523	.	0.057309	0.64402	D	0.000001	T	0.43787	0.1263	L	0.56769	1.78	0.24350	N	0.99493	D;D	0.53885	0.963;0.963	P;P	0.49140	0.601;0.601	T	0.40794	-0.9544	10	0.87932	D	0	-1.7142	13.4661	0.61254	0.0:0.9239:0.0:0.0761	.	475;476	B7ZM03;Q75N03	.;HAKAI_HUMAN	H	476;355;475;267	ENSP00000401277:P476H;ENSP00000222597:P475H	ENSP00000222597:P475H	P	+	2	0	CBLL1	107186810	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.453000	0.80700	1.172000	0.42781	0.441000	0.28932	CCT	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337156.2		+	ENST00000440859.3	Missense_Mutation	SNP	7 : 107399574 - 107399574 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	801	138
ELAVL2	1993	broad.mit.edu	37	9	23701384	23701384	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:23701384G>A	ENST00000397312.2	-	5	980	c.706C>T	c.(706-708)Cgt>Tgt	p.R236C	ELAVL2_ENST00000380110.4_Missense_Mutation_p.R265C|ELAVL2_ENST00000223951.6_Missense_Mutation_p.R236C|ELAVL2_ENST00000544538.1_Missense_Mutation_p.R236C|ELAVL2_ENST00000380117.1_Missense_Mutation_p.R236C	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	236					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	p.R236G(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TACCTAAAACGCTGTGCCTGC	0.458		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)											256	249	251			NA	NA	9		NA											NA				23701384		2203	4300	6503	SO:0001583	missense			BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105	1993	1993		RNA binding motif (RRM) containing	3313	protein-coding gene	gene with protein product	Hu antigen B	601673	ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2, ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)		NA	8812435	Standard	NM_004432	NM_004432	NA	Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.706C>T	9.37:g.23701384G>A	ENSP00000380479:p.Arg236Cys	NA	D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	37	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225405	0.58668	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598	T;T;T;T	0.16073	2.37;2.8;2.8;2.8	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.48333	0.1494	M	0.84948	2.725	0.80722	D	1	B;D	0.76494	0.263;0.999	B;D	0.66497	0.05;0.944	T	0.46978	-0.9152	10	0.54805	T	0.06	.	20.3241	0.98686	0.0:0.0:1.0:0.0	.	236;236	Q12926;Q12926-2	ELAV2_HUMAN;.	C	236;236;236;236;236;264	ENSP00000223951:R236C;ENSP00000380479:R236C;ENSP00000440998:R236C;ENSP00000369460:R236C	ENSP00000223951:R236C	R	-	1	0	ELAVL2	23691384	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.488000	0.53229	2.812000	0.96745	0.563000	0.77884	CGT	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051943.2		-	ENST00000397312.2	Missense_Mutation	SNP	9 : 23701384 - 23701384 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	911	37
DDX18	8886	broad.mit.edu	37	2	118583136	118583136	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:118583136C>T	ENST00000263239.2	+	10	1610	c.1482C>T	c.(1480-1482)gtC>gtT	p.V494V		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	494	Helicase C-terminal.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCCTGAAGTCGACTGGATTG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	116	120			NA	NA	2		NA											NA				118583136		2203	4300	6503	SO:0001819	synonymous_variant			X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205	8886	8886		DEAD-boxes	2741	protein-coding gene	gene with protein product		606355	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)		NA	8861962	Standard	NM_006773	NM_006773	NA	Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.1482C>T	2.37:g.118583136C>T		NA	Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	37	CCDS2120.1																																																																																			DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000129632.3		+	ENST00000263239.2	Silent	SNP	2 : 118583136 - 118583136 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	492	46
TTC21B	79809	broad.mit.edu	37	2	166785764	166785764	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166785764G>T	ENST00000243344.7	-	11	1404	c.1267C>A	c.(1267-1269)Ctg>Atg	p.L423M		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	423						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TGAGTGTCCAGGACATCATTT	0.303		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	2		NA											NA				166785764		2202	4299	6501	SO:0001583	missense			AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607	79809	79809		Tetratricopeptide (TTC) repeat domain containing, Intraflagellar transport homologs	25660	protein-coding gene	gene with protein product		612014			NA	12056414, 21258341	Standard	NM_024753	NM_024753	NA	Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.1267C>A	2.37:g.166785764G>T	ENSP00000243344:p.Leu423Met	NA	A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	37	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	g	9.882	1.201929	0.22121	.	.	ENSG00000123607	ENST00000243344	T	0.35421	1.31	5.38	-3.4	0.04853	Tetratricopeptide-like helical (1);	0.139563	0.48767	D	0.000169	T	0.37156	0.0993	L	0.50919	1.6	0.80722	D	1	D;P	0.55605	0.972;0.71	P;B	0.54629	0.757;0.352	T	0.22695	-1.0209	10	0.59425	D	0.04	-2.5633	7.1948	0.25847	0.443:0.1112:0.4458:0.0	.	423;423	Q7Z4L5-2;Q7Z4L5	.;TT21B_HUMAN	M	423	ENSP00000243344:L423M	ENSP00000243344:L423M	L	-	1	2	TTC21B	166494010	0.778000	0.28640	0.003000	0.11579	0.311000	0.27955	0.853000	0.27777	-1.009000	0.03400	-0.144000	0.13903	CTG	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333770.1		-	ENST00000243344.7	Missense_Mutation	SNP	2 : 166785764 - 166785764 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	228	50
COL7A1	1294	broad.mit.edu	37	3	48621343	48621343	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48621343G>A	ENST00000328333.8	-	38	4375	c.4268C>T	c.(4267-4269)cCt>cTt	p.P1423L	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1423L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1423	Interrupted collagenous region.|Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGGCAGCCCAGGCTCCCCAGG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	51	47			NA	NA	3		NA											NA				48621343		2203	4299	6502	SO:0001583	missense			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270	1294	1294		Collagens, Fibronectin type III domain containing	2214	protein-coding gene	gene with protein product	collagen VII, alpha-1 polypeptide, LC collagen	120120	epidermolysis bullosa, dystrophic, dominant and recessive	EBDCT, EBD1, EBR1	NA	1871109	Standard	NM_000094	NM_000094	NA	Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.4268C>T	3.37:g.48621343G>A	ENSP00000332371:p.Pro1423Leu	NA	Q14054|Q16507	37	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.182693	0.38511	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.89270	-2.47;-2.49	5.2	5.2	0.72013	.	0.000000	0.46758	D	0.000273	D	0.94574	0.8252	M	0.86502	2.82	0.30089	N	0.808516	D	0.89917	1.0	D	0.66716	0.946	D	0.91979	0.5593	10	0.52906	T	0.07	.	15.6004	0.76620	0.0:0.0:1.0:0.0	.	1423	Q02388	CO7A1_HUMAN	L	1423	ENSP00000332371:P1423L;ENSP00000412569:P1423L	ENSP00000332371:P1423L	P	-	2	0	COL7A1	48596347	0.995000	0.38212	0.167000	0.22817	0.408000	0.30992	4.173000	0.58249	2.711000	0.92665	0.655000	0.94253	CCT	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257519.1		-	ENST00000328333.8	Missense_Mutation	SNP	3 : 48621343 - 48621343 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	52
TACC2	10579	broad.mit.edu	37	10	123842275	123842275	+	Missense_Mutation	SNP	C	C	T	rs143057039		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123842275C>T	ENST00000369005.1	+	4	600	c.260C>T	c.(259-261)gCc>gTc	p.A87V	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.A87V|TACC2_ENST00000515273.1_Missense_Mutation_p.A87V|TACC2_ENST00000515603.1_Missense_Mutation_p.A87V|TACC2_ENST00000453444.2_Missense_Mutation_p.A87V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	87						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCACAGGGAGCCAGGGGGCCA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	72	71			NA	NA	10		NA											NA				123842275		2203	4300	6503	SO:0001583	missense			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162	10579	10579			11523	protein-coding gene	gene with protein product		605302			NA	14767476	Standard		XM_005269388	NA	Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.260C>T	10.37:g.123842275C>T	ENSP00000358001:p.Ala87Val	NA	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	37	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798907	0.90538	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.07021	3.38;3.23;3.26;3.38;3.23	5.25	0.929	0.19449	.	0.000000	0.32884	N	0.005531	T	0.05044	0.0135	L	0.34521	1.04	0.09310	N	1	B;B;B	0.21821	0.061;0.061;0.061	B;B;B	0.18263	0.021;0.021;0.021	T	0.34750	-0.9816	10	0.27082	T	0.32	-5.5343	3.659	0.08232	0.1595:0.3586:0.3879:0.094	.	87;87;87	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	V	87;87;87;87;87;77	ENSP00000358001:A87V;ENSP00000424467:A87V;ENSP00000427618:A87V;ENSP00000334280:A87V;ENSP00000395048:A87V	ENSP00000334280:A87V	A	+	2	0	TACC2	123832265	0.001000	0.12720	0.036000	0.18154	0.854000	0.48673	0.219000	0.17641	0.585000	0.29608	0.557000	0.71058	GCC	TACC2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090004.1		+	ENST00000369005.1	Missense_Mutation	SNP	10 : 123842275 - 123842275 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	516	104
C7orf31	136895	broad.mit.edu	37	7	25175698	25175698	+	Missense_Mutation	SNP	G	G	A	rs143176585	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:25175698G>A	ENST00000409280.1	-	10	1974	c.1666C>T	c.(1666-1668)Cgt>Tgt	p.R556C	C7orf31_ENST00000283905.3_Missense_Mutation_p.R556C			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	556										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						TTATGGAAACGCTTTTGTGCA	0.413		NA											G	2	9e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0026	NA	NA	9e-04	0.9768	EXOME	NA	NA	3e-04	SNP								NA				0								G	CYS/ARG	6,4400	11.4+/-27.6	0,6,2197	119	118	119		1666	3.5	0.7	7	dbSNP_134	119	31,8569	20.4+/-63.3	0,31,4269	yes	missense	C7orf31	NM_138811.3	180	0,37,6466	AA,AG,GG	NA	0.3605,0.1362,0.2845	probably-damaging	556/591	25175698	37,12969	2203	4300	6503	SO:0001583	missense			AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790	136895	136895			21722	protein-coding gene	gene with protein product					NA		Standard	NM_138811	NM_138811	NA	Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.1666C>T	7.37:g.25175698G>A	ENSP00000386604:p.Arg556Cys	NA	A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	37	CCDS5394.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	12.45	1.941501	0.34283	0.001362	0.003605	ENSG00000153790	ENST00000409280;ENST00000283905	T;T	0.07800	3.16;3.16	5.41	3.55	0.40652	.	0.200309	0.42682	N	0.000680	T	0.07818	0.0196	M	0.66939	2.045	0.22629	N	0.998914	P	0.34684	0.463	B	0.19666	0.026	T	0.33828	-0.9853	10	0.54805	T	0.06	-4.2669	4.6912	0.12781	0.0734:0.1319:0.5231:0.2716	.	556	Q8N865	CG031_HUMAN	C	556	ENSP00000386604:R556C;ENSP00000283905:R556C	ENSP00000283905:R556C	R	-	1	0	C7orf31	25142223	0.037000	0.19845	0.726000	0.30738	0.489000	0.33432	0.635000	0.24629	0.724000	0.32296	-0.258000	0.10820	CGT	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326929.1		-	ENST00000409280.1	Missense_Mutation	SNP	7 : 25175698 - 25175698 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	631	120
AFAP1L1	134265	broad.mit.edu	37	5	148687146	148687146	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148687146G>A	ENST00000296721.4	+	7	815	c.717G>A	c.(715-717)caG>caA	p.Q239Q	AFAP1L1_ENST00000515000.1_Silent_p.Q239Q|AFAP1L1_ENST00000522492.1_3'UTR	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	239	PH 1.						protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCCAAGCAGCTGACGGTCA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	49	53			NA	NA	5		NA											NA				148687146		2203	4300	6503	SO:0001819	synonymous_variant			AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510	134265	134265		Pleckstrin homology (PH) domain containing	26714	protein-coding gene	gene with protein product		614410			NA		Standard	NM_152406	NM_152406	NA	Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.717G>A	5.37:g.148687146G>A		NA	Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	37	CCDS34274.1																																																																																			AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373443.1		+	ENST00000296721.4	Silent	SNP	5 : 148687146 - 148687146 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	233	49
TCF7L2	6934	broad.mit.edu	37	10	114918429	114918429	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114918429A>G	ENST00000369397.4	+	12	1558	c.1253A>G	c.(1252-1254)cAc>cGc	p.H418R	TCF7L2_ENST00000466338.1_Intron|TCF7L2_ENST00000355717.4_Intron|TCF7L2_ENST00000545257.1_Missense_Mutation_p.H441R|TCF7L2_ENST00000534894.1_Missense_Mutation_p.H441R|TCF7L2_ENST00000352065.5_Missense_Mutation_p.H418R|TCF7L2_ENST00000542695.1_Missense_Mutation_p.H157R|TCF7L2_ENST00000543371.1_Intron|TCF7L2_ENST00000355995.4_Missense_Mutation_p.H441R|TCF7L2_ENST00000369389.1_Intron|TCF7L2_ENST00000538897.1_Missense_Mutation_p.H441R|TCF7L2_ENST00000369386.1_Intron|TCF7L2_ENST00000536810.1_Intron	NM_001198525.1|NM_001198527.1|NM_001198528.1|NM_030756.4	NP_001185454.1|NP_001185456.1|NP_001185457.1|NP_110383.2	Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	441					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		TTTTCAGAACACAGCGAATGT	0.338		NA	T	VTI1A	colorectal									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	0													101	97	98			NA	NA	10		NA											NA				114918429		2202	4299	6501	SO:0001583	missense			X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737	6934	6934			11641	protein-coding gene	gene with protein product		602228		TCF4	NA	1741298	Standard	NM_030756	NM_001146283	NA	Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000369397.4:c.1253A>G	10.37:g.114918429A>G	ENSP00000358404:p.His418Arg	NA	O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	37	CCDS7576.1	.	.	.	.	.	.	.	.	.	.	a	8.094	0.775101	0.16051	.	.	ENSG00000148737	ENST00000355995;ENST00000545257;ENST00000538897;ENST00000534894;ENST00000369397;ENST00000352065;ENST00000542695	D;D;D;D;D;D;D	0.99150	-4.91;-4.91;-5.49;-5.49;-4.91;-5.48;-4.93	5.67	5.67	0.87782	.	0.113107	0.64402	D	0.000020	D	0.98830	0.9605	L	0.53249	1.67	0.80722	D	1	P;B;B;B;P;B;D;D;B;D;B;D	0.58970	0.932;0.0;0.0;0.0;0.932;0.0;0.973;0.984;0.0;0.973;0.013;0.973	P;B;B;B;P;B;D;D;B;D;B;D	0.69479	0.84;0.0;0.0;0.001;0.888;0.001;0.921;0.964;0.0;0.921;0.014;0.921	D	0.99795	1.1033	10	0.25751	T	0.34	-14.8426	15.9154	0.79512	1.0:0.0:0.0:0.0	.	298;258;340;441;312;356;414;418;418;423;414;418	B4DJZ2;B7Z9Z6;B4DWD5;Q9NQB0;C6ZRK4;C6ZRJ6;C6ZRJ9;F8W742;C6ZRK1;C6ZRJ7;Q9NQB0-10;Q6FHW4	.;.;.;TF7L2_HUMAN;.;.;.;.;.;.;.;.	R	441;441;441;441;418;418;157	ENSP00000348274:H441R;ENSP00000440547:H441R;ENSP00000446172:H441R;ENSP00000443626:H441R;ENSP00000358404:H418R;ENSP00000344823:H418R;ENSP00000443883:H157R	ENSP00000344823:H418R	H	+	2	0	TCF7L2	114908419	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.998000	0.76277	2.178000	0.69098	0.533000	0.62120	CAC	TCF7L2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050413.1		+	ENST00000369397.4	Missense_Mutation	SNP	10 : 114918429 - 114918429 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	373	64
SPESP1	246777	broad.mit.edu	37	15	69238882	69238882	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69238882A>G	ENST00000310673.3	+	2	1163	c.1009A>G	c.(1009-1011)Atg>Gtg	p.M337V	NOX5_ENST00000260364.5_Intron|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000455873.3_Intron|RP11-809H16.2_ENST00000557966.1_RNA	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	337					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						ATTAAAAAATATGTGTAGATC	0.269		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	42	41			NA	NA	15		NA											NA				69238882		1990	4140	6130	SO:0001583	missense			AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484	246777	246777			15570	protein-coding gene	gene with protein product		609399			NA	12773409	Standard	NM_145658	NM_145658	NA	Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.1009A>G	15.37:g.69238882A>G	ENSP00000312284:p.Met337Val	NA	Q8NG22|Q8WVH8	37	CCDS10230.1	.	.	.	.	.	.	.	.	.	.	A	0.149	-1.093309	0.01858	.	.	ENSG00000258484	ENST00000310673	T	0.18810	2.19	4.94	1.23	0.21249	.	1.099980	0.07012	N	0.825205	T	0.09992	0.0245	N	0.14661	0.345	0.80722	D	1	B	0.32573	0.376	B	0.27887	0.084	T	0.33085	-0.9882	10	0.29301	T	0.29	-0.7718	2.6801	0.05091	0.5967:0.0:0.2104:0.1929	.	337	Q6UW49	SPESP_HUMAN	V	337	ENSP00000312284:M337V	ENSP00000312284:M337V	M	+	1	0	SPESP1	67025936	1.000000	0.71417	0.987000	0.45799	0.089000	0.18198	1.328000	0.33758	0.851000	0.35264	0.533000	0.62120	ATG	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257125.1		+	ENST00000310673.3	Missense_Mutation	SNP	15 : 69238882 - 69238882 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	342	77
HSPA2	3306	broad.mit.edu	37	14	65007778	65007778	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65007778G>A	ENST00000394709.1	+	2	287	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	HSPA2_ENST00000247207.6_Missense_Mutation_p.A71T|HSPA2_ENST00000554883.1_Intron			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	71					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CATCTTCGACGCCAAGAGGCT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(136;1211 1835 24894 31984 38227)							NA				0													99	79	86			NA	NA	14		NA											NA				65007778		2203	4300	6503	SO:0001583	missense			L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803	3306	3306		Heat shock proteins / HSP70	5235	protein-coding gene	gene with protein product		140560	heat shock 70kD protein 2		NA		Standard		NM_021979	NA	Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.211G>A	14.37:g.65007778G>A	ENSP00000378199:p.Ala71Thr	NA	Q15508|Q53XM3|Q9UE78	37	CCDS9766.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995842	0.74703	.	.	ENSG00000126803	ENST00000394709;ENST00000247207;ENST00000545222	T;T	0.01015	5.44;5.44	5.38	5.38	0.77491	.	0.000000	0.53938	U	0.000049	T	0.03739	0.0106	M	0.75085	2.285	0.58432	D	0.999999	P	0.43607	0.812	P	0.49192	0.602	T	0.33701	-0.9858	10	0.87932	D	0	0.4442	19.1451	0.93461	0.0:0.0:1.0:0.0	.	71	P54652	HSP72_HUMAN	T	71	ENSP00000378199:A71T;ENSP00000247207:A71T	ENSP00000247207:A71T	A	+	1	0	HSPA2	64077531	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.828000	0.99408	2.517000	0.84864	0.563000	0.77884	GCC	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280651.1		+	ENST00000394709.1	Missense_Mutation	SNP	14 : 65007778 - 65007778 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	286	54
APBB1	322	broad.mit.edu	37	11	6432329	6432329	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6432329G>A	ENST00000609360.1	-	2	348	c.249C>T	c.(247-249)gcC>gcT	p.A83A	APBB1_ENST00000311051.3_Silent_p.A83A|APBB1_ENST00000389906.2_Silent_p.A83A|APBB1_ENST00000299402.6_Silent_p.A83A	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	NA					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GGTCACGGTGGGCCGTGGCGG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(147;1810 2556 5672 39622)							NA				0													88	104	98			NA	NA	11		NA											NA				6432329		2201	4296	6497	SO:0001819	synonymous_variant			L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313	322	322			581	protein-coding gene	gene with protein product		602709		RIR	NA	8955346, 8894693	Standard	NM_001164	NM_001164	NA	Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.249C>T	11.37:g.6432329G>A		NA	A6NH82|A6NL69|D3DQT2|Q96A93	37																																																																																				APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000471831.1		-	ENST00000609360.1	Silent	SNP	11 : 6432329 - 6432329 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1474	62
SNW1	22938	broad.mit.edu	37	14	78189607	78189607	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78189607T>C	ENST00000261531.7	-	11	1109	c.1047A>G	c.(1045-1047)gcA>gcG	p.A349A	SNW1_ENST00000554775.1_Silent_p.A187A|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000555761.1_Silent_p.A349A	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	349					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CCCTCTCACGTGCCTCCCCAT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	109	118			NA	NA	14		NA											NA				78189607		2203	4300	6503	SO:0001819	synonymous_variant			AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603	22938	22938			16696	protein-coding gene	gene with protein product		603055	SKI interacting protein	SKIIP	NA	8973337, 9632709	Standard	NM_012245	NM_012245	NA	Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.1047A>G	14.37:g.78189607T>C		NA	A8K8A9|Q13483|Q32N03|Q5D0D6	37	CCDS9867.1																																																																																			SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413912.1		-	ENST00000261531.7	Silent	SNP	14 : 78189607 - 78189607 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	560	101
PCDHA2	56146	broad.mit.edu	37	5	140175911	140175911	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140175911G>A	ENST00000520672.2	+	1	1468	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A	PCDHA2_ENST00000526136.1_Silent_p.A454A|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.A454A|PCDHA1_ENST00000394633.3_Intron	NM_031496.1	NP_113684.1			protocadherin alpha 2	NA										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGCCGGCGTTCGCACAGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	79	78			NA	NA	5		NA											NA				140175911		2203	4300	6503	SO:0001819	synonymous_variant			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969	56146	56146		Cadherins / Protocadherins : Clustered	8668	other	complex locus constituent	KIAA0345-like 12	606308			NA	10380929	Standard	NM_018905	NM_018905	NA	Approved			Q9Y5H9		ENST00000520672.2:c.1362G>A	5.37:g.140175911G>A		NA		37																																																																																				PCDHA2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000374265.2		+	ENST00000520672.2	Silent	SNP	5 : 140175911 - 140175911 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	754	147
BOD1L1	259282	broad.mit.edu	37	4	13601726	13601726	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13601726G>A	ENST00000040738.5	-	10	6933	c.6798C>T	c.(6796-6798)ggC>ggT	p.G2266G		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	2266							DNA binding				NA						TGGACACTGGGCCCTCACAGT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	67	70			NA	NA	4		NA											NA				13601726		2203	4300	6503	SO:0001819	synonymous_variant			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219	259282	259282			31792	protein-coding gene	gene with protein product			family with sequence similarity 44, member A, biorientation of chromosomes in cell division 1-like	FAM44A, BOD1L	NA		Standard	NM_148894	XM_005248150	NA	Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.6798C>T	4.37:g.13601726G>A		NA	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	37	CCDS3411.2																																																																																			BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207321.1		-	ENST00000040738.5	Silent	SNP	4 : 13601726 - 13601726 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	155	33
CHST9	83539	broad.mit.edu	37	18	24496351	24496351	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:24496351C>T	ENST00000284224.8	-	6	1481	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N	AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.D402N|CHST9_ENST00000580774.1_3'UTR	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	402					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	p.D402Y(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					GTTCTTTCATCGGAAGAGTGC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											146	136	139			NA	NA	18		NA											NA				24496351		1840	4090	5930	SO:0001583	missense			AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080	83539	83539		Sulfotransferases, membrane-bound	19898	protein-coding gene	gene with protein product		610191			NA	11139592, 11445554	Standard	NM_031422	NM_031422	NA	Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.1204G>A	18.37:g.24496351C>T	ENSP00000284224:p.Asp402Asn	NA	Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	37	CCDS42422.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184112	0.78677	.	.	ENSG00000154080	ENST00000284224	T	0.73152	-0.72	6.07	6.07	0.98685	.	0.073354	0.56097	D	0.000021	T	0.71143	0.3305	N	0.08118	0	0.80722	D	1	D	0.67145	0.996	D	0.64877	0.93	T	0.73949	-0.3821	10	0.40728	T	0.16	-26.7158	20.6593	0.99626	0.0:1.0:0.0:0.0	.	402	Q7L1S5	CHST9_HUMAN	N	402	ENSP00000284224:D402N	ENSP00000284224:D402N	D	-	1	0	CHST9	22750349	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	5.755000	0.68750	2.885000	0.99019	0.655000	0.94253	GAT	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000446549.1		-	ENST00000284224.8	Missense_Mutation	SNP	18 : 24496351 - 24496351 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	870	142
NAV3	89795	broad.mit.edu	37	12	78400927	78400927	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78400927G>A	ENST00000397909.2	+	8	1782	c.1609G>A	c.(1609-1611)Gta>Ata	p.V537I	NAV3_ENST00000228327.6_Missense_Mutation_p.V537I|NAV3_ENST00000536525.2_Missense_Mutation_p.V537I|NAV3_ENST00000266692.7_Missense_Mutation_p.V537I			Q8IVL0	NAV3_HUMAN	neuron navigator 3	537						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGTTCCAACAGTAAAGCAAAC	0.463		NA								HNSCC(70;0.22)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	59	59			NA	NA	12		NA											NA				78400927		1897	4119	6016	SO:0001583	missense			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798	89795	89795			15998	protein-coding gene	gene with protein product	pore membrane and/or filament interacting like protein 1, steerin 3	611629			NA	12079279, 12062803	Standard	NM_001024383	XM_005269215	NA	Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1609G>A	12.37:g.78400927G>A	ENSP00000381007:p.Val537Ile	NA	Q8NFW7|Q9Y2E7	37		.	.	.	.	.	.	.	.	.	.	G	6.345	0.431745	0.12045	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6	5.29	3.38	0.38709	.	0.185424	0.25341	U	0.031368	T	0.09686	0.0238	N	0.14661	0.345	0.09310	N	0.999999	B;B	0.14805	0.011;0.0	B;B	0.12156	0.007;0.0	T	0.20806	-1.0264	10	0.40728	T	0.16	-2.8455	15.5497	0.76141	0.0:0.406:0.594:0.0	.	537;537	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	I	537	ENSP00000446628:V537I;ENSP00000446132:V537I;ENSP00000381007:V537I;ENSP00000228327:V537I;ENSP00000266692:V537I	ENSP00000228327:V537I	V	+	1	0	NAV3	76925058	0.753000	0.28349	0.097000	0.21041	0.126000	0.20510	3.321000	0.51999	0.555000	0.29079	0.650000	0.86243	GTA	NAV3-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000406812.1		+	ENST00000397909.2	Missense_Mutation	SNP	12 : 78400927 - 78400927 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	50
CDH2	1000	broad.mit.edu	37	18	25565534	25565534	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:25565534G>A	ENST00000399380.3	-	11	1876	c.1840C>T	c.(1840-1842)Cca>Tca	p.P614S	CDH2_ENST00000269141.3_Missense_Mutation_p.P645S			P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	645	Cadherin 5.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATAGTCACTGGAGATAAAGGA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	74	74			NA	NA	18		NA											NA				25565534		2203	4300	6503	SO:0001583	missense			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558	1000	1000		CD molecules, Cadherins / Major cadherins	1759	protein-coding gene	gene with protein product	N-cadherin	114020		NCAD	NA	2384753, 7731968, 2216790	Standard	NM_001792	NM_001792	NA	Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000399380.3:c.1840C>T	18.37:g.25565534G>A	ENSP00000382312:p.Pro614Ser	NA	B0YIY6|Q14923|Q8N173	37		.	.	.	.	.	.	.	.	.	.	G	14.65	2.597282	0.46318	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.51325	0.71;0.71	5.96	5.96	0.96718	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.59972	0.2233	L	0.45228	1.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.47446	-0.9117	10	0.06494	T	0.89	.	20.394	0.98981	0.0:0.0:1.0:0.0	.	614;645	A8MWK3;P19022	.;CADH2_HUMAN	S	645;614	ENSP00000269141:P645S;ENSP00000382312:P614S	ENSP00000269141:P645S	P	-	1	0	CDH2	23819532	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.414000	0.97362	2.830000	0.97506	0.585000	0.79938	CCA	CDH2-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000139363.3		-	ENST00000399380.3	Missense_Mutation	SNP	18 : 25565534 - 25565534 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	41
NGRN	51335	broad.mit.edu	37	15	90809089	90809089	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90809089G>A	ENST00000379095.3	+	1	153	c.145G>A	c.(145-147)Gag>Aag	p.E49K	NGRN_ENST00000331497.3_3'UTR|RP11-697E2.6_ENST00000561573.1_Intron	NM_001033088.1	NP_001028260.2	Q9NPE2	NGRN_HUMAN	neugrin, neurite outgrowth associated	49					neuron differentiation	extracellular region|nucleus				kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			GGAGGAACGGGAGCTGCAGGA	0.751		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													7	10	9			NA	NA	15		NA											NA				90809089		2143	4177	6320	SO:0001583	missense			AB029315	CCDS32329.1	15q26.1	2008-02-05			ENSG00000182768	ENSG00000182768	51335	51335			18077	protein-coding gene	gene with protein product					NA	11118320	Standard		NR_028052	NA	Approved	DSC92	uc002bpf.1	Q9NPE2	OTTHUMG00000149807	ENST00000379095.3:c.145G>A	15.37:g.90809089G>A	ENSP00000368389:p.Glu49Lys	NA	B2R6M8|Q4V9L7|Q9HBL4	37	CCDS32329.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.331857	0.41297	.	.	ENSG00000182768	ENST00000379095	T	0.30981	1.51	4.77	3.86	0.44501	.	0.104340	0.36591	U	0.002516	T	0.27134	0.0665	L	0.32530	0.975	0.32686	N	0.514831	P	0.43094	0.799	P	0.50537	0.643	T	0.14643	-1.0465	10	0.07030	T	0.85	.	8.6983	0.34310	0.1017:0.0:0.8983:0.0	.	49	Q9NPE2	NGRN_HUMAN	K	49	ENSP00000368389:E49K	ENSP00000368389:E49K	E	+	1	0	NGRN	88610093	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.552000	0.45828	1.250000	0.43966	0.655000	0.94253	GAG	NGRN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313418.1		+	ENST00000379095.3	Missense_Mutation	SNP	15 : 90809089 - 90809089 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	112	25
CCDC85A	114800	broad.mit.edu	37	2	56420013	56420013	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56420013G>T	ENST00000407595.2	+	2	1180	c.678G>T	c.(676-678)aaG>aaT	p.K226N	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	226	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACCACCACAAGCACCACGCGA	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	35	32			NA	NA	2		NA											NA				56420013		2177	4274	6451	SO:0001583	missense			AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813	114800	114800			29400	protein-coding gene	gene with protein product					NA	11572484	Standard		NM_001080433	NA	Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.678G>T	2.37:g.56420013G>T	ENSP00000384040:p.Lys226Asn	NA		37	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663758	0.47572	.	.	ENSG00000055813	ENST00000407595	.	.	.	5.18	1.86	0.25419	.	0.250691	0.45867	D	0.000333	T	0.34571	0.0902	L	0.29908	0.895	0.80722	D	1	P	0.36027	0.533	B	0.34590	0.186	T	0.04976	-1.0914	9	0.22706	T	0.39	0.196	8.7085	0.34369	0.4288:0.0:0.5712:0.0	.	226	Q96PX6	CC85A_HUMAN	N	226	.	ENSP00000384040:K226N	K	+	3	2	CCDC85A	56273517	0.997000	0.39634	0.993000	0.49108	0.898000	0.52572	0.477000	0.22196	0.554000	0.29061	0.655000	0.94253	AAG	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324993.1		+	ENST00000407595.2	Missense_Mutation	SNP	2 : 56420013 - 56420013 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	77
GATAD2A	54815	broad.mit.edu	37	19	19609351	19609351	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19609351G>A	ENST00000404158.1	+	10	1442	c.1024G>A	c.(1024-1026)Gca>Aca	p.A342T	GATAD2A_ENST00000429563.2_Missense_Mutation_p.A169T|GATAD2A_ENST00000360315.3_Missense_Mutation_p.A342T|GATAD2A_ENST00000252577.5_Missense_Mutation_p.A342T|GATAD2A_ENST00000537887.1_5'UTR|GATAD2A_ENST00000358713.3_Missense_Mutation_p.A342T			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	342					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						CGAGTCTCCAGCAAGCCGACA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	37	35			NA	NA	19		NA											NA				19609351		2203	4299	6502	SO:0001583	missense			AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491	54815	54815		GATA zinc finger domain containing	29989	protein-coding gene	gene with protein product	p66 alpha	614997			NA	12183469	Standard	NM_017660	NM_017660	NA	Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000404158.1:c.1024G>A	19.37:g.19609351G>A	ENSP00000384899:p.Ala342Thr	NA	Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	37		.	.	.	.	.	.	.	.	.	.	G	23.9	4.472267	0.84533	.	.	ENSG00000167491	ENST00000360315;ENST00000252577;ENST00000404158;ENST00000358713;ENST00000429563	T;T;T;T	0.58210	0.98;0.86;0.98;0.35	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.74176	0.3682	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.74290	-0.3713	9	.	.	.	-12.9224	18.3542	0.90351	0.0:0.0:1.0:0.0	.	169;361;342	B4DKZ7;B5MC40;Q86YP4	.;.;P66A_HUMAN	T	342;342;361;342;169	ENSP00000353463:A342T;ENSP00000252577:A342T;ENSP00000351552:A342T;ENSP00000388416:A169T	.	A	+	1	0	GATAD2A	19470351	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	9.775000	0.98995	2.691000	0.91804	0.650000	0.86243	GCA	GATAD2A-002	NOVEL	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000326672.4		+	ENST00000404158.1	Missense_Mutation	SNP	19 : 19609351 - 19609351 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	75
TRRAP	8295	broad.mit.edu	37	7	98592299	98592299	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98592299C>T	ENST00000446306.3	+	64	10123	c.10062C>T	c.(10060-10062)ccC>ccT	p.P3354P	TRRAP_ENST00000355540.3_Silent_p.P3336P|TRRAP_ENST00000359863.4_Silent_p.P3365P			Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3365					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAATCACCCCCCACACTCTCA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													194	185	188			NA	NA	7		NA											NA				98592299		2203	4300	6503	SO:0001819	synonymous_variant			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367	8295	8295			12347	protein-coding gene	gene with protein product		603015			NA	9708738, 9885574	Standard	NM_003496	NM_003496	NA	Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000446306.3:c.10062C>T	7.37:g.98592299C>T		NA	A4D265|O75218|Q9Y631|Q9Y6H4	37		.	.	.	.	.	.	.	.	.	.	C	8.904	0.957124	0.18507	.	.	ENSG00000196367	ENST00000456197	T	0.03124	4.04	5.05	-8.0	0.01126	.	0.000000	0.85682	D	0.000000	T	0.03564	0.0102	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39078	-0.9631	7	0.49607	T	0.09	.	1.4586	0.02391	0.1617:0.2501:0.2958:0.2925	.	.	.	.	L	3094	ENSP00000394645:P3094L	ENSP00000394645:P3094L	P	+	2	0	TRRAP	98430235	0.000000	0.05858	0.884000	0.34674	0.963000	0.63663	-2.000000	0.01466	-1.255000	0.02481	0.462000	0.41574	CCC	TRRAP-004	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000317981.3		+	ENST00000446306.3	Silent	SNP	7 : 98592299 - 98592299 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1481	290
NDUFA10	4705	broad.mit.edu	37	2	240929543	240929543	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240929543T>A	ENST00000307300.4	-	10	1059	c.1037A>T	c.(1036-1038)gAa>gTa	p.E346V	NDUFA10_ENST00000252711.2_Missense_Mutation_p.E316V|NDUFA10_ENST00000404554.1_Missense_Mutation_p.E316V			O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	316					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	AATGGTGACTTCCGGGAGAAA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	114	117			NA	NA	2		NA											NA				240929543		2203	4300	6503	SO:0001583	missense			AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414	4705	4705		Mitochondrial respiratory chain complex / Complex I	7684	protein-coding gene	gene with protein product	complex I 42kDa subunit	603835	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)		NA	9878551	Standard	NM_004544	NM_004544	NA	Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000307300.4:c.1037A>T	2.37:g.240929543T>A	ENSP00000302321:p.Glu346Val	NA		37		.	.	.	.	.	.	.	.	.	.	T	13.47	2.247391	0.39697	.	.	ENSG00000130414	ENST00000419408;ENST00000252711;ENST00000404554;ENST00000422018;ENST00000443626;ENST00000448880;ENST00000307300	D;D;D;D	0.87729	-1.91;-2.06;-2.1;-2.29	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.92899	0.7741	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.992	D	0.93527	0.6866	10	0.87932	D	0	-27.0026	11.0376	0.47811	0.0:0.0:0.0:1.0	.	346;316	Q8WXC9;O95299	.;NDUAA_HUMAN	V	81;316;316;316;220;79;346	ENSP00000252711:E316V;ENSP00000385697:E316V;ENSP00000411527:E220V;ENSP00000302321:E346V	ENSP00000252711:E316V	E	-	2	0	NDUFA10	240578216	0.478000	0.25917	0.721000	0.30653	0.018000	0.09664	3.088000	0.50175	1.937000	0.56155	0.460000	0.39030	GAA	NDUFA10-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000326141.1		-	ENST00000307300.4	Missense_Mutation	SNP	2 : 240929543 - 240929543 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	528	143
ABCA8	10351	broad.mit.edu	37	17	66903959	66903959	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66903959G>T	ENST00000269080.2	-	16	2217	c.2080C>A	c.(2080-2082)Cct>Act	p.P694T	ABCA8_ENST00000586539.1_Missense_Mutation_p.P734T|ABCA8_ENST00000430352.2_Missense_Mutation_p.P734T	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	694						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTGGCATCAGGGATGTGCTGT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	164	168			NA	NA	17		NA											NA				66903959		2203	4300	6503	SO:0001583	missense			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338	10351	10351		ATP binding cassette transporters / subfamily A	38	protein-coding gene	gene with protein product		612505			NA		Standard	NM_007168	XM_005256938	NA	Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.2080C>A	17.37:g.66903959G>T	ENSP00000269080:p.Pro694Thr	NA	Q86WW0	37	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052592	0.75960	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	T;T	0.68903	-0.36;-0.36	4.9	4.9	0.64082	.	0.000000	0.48286	D	0.000182	D	0.87939	0.6304	H	0.96777	3.88	0.58432	D	0.999999	D;D;P;D;D	0.71674	0.998;0.996;0.758;0.996;0.996	D;D;B;D;D	0.76071	0.987;0.931;0.354;0.969;0.931	D	0.92010	0.5617	10	0.87932	D	0	.	17.2378	0.87004	0.0:0.0:1.0:0.0	.	673;734;734;734;694	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	T	694;734;673	ENSP00000269080:P694T;ENSP00000402814:P734T	ENSP00000269080:P694T	P	-	1	0	ABCA8	64415554	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.464000	0.53057	2.544000	0.85801	0.655000	0.94253	CCT	ABCA8-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450172.1		-	ENST00000269080.2	Missense_Mutation	SNP	17 : 66903959 - 66903959 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	179	40
IFNK	56832	broad.mit.edu	37	9	27524894	27524894	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:27524894G>A	ENST00000276943.2	+	1	583	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	MOB3B_ENST00000262244.5_Intron	NM_020124.2	NP_064509.2	Q9P0W0	IFNK_HUMAN	interferon, kappa	187					cytokine-mediated signaling pathway|defense response|natural killer cell activation|negative regulation of cell proliferation|positive regulation of innate immune response|regulation of transcription, DNA-dependent|response to virus	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			large_intestine(1)	1		all_neural(11;7.9e-11)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)		GAGATTGTCCGAGTGGAAATC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	43	42			NA	NA	9		NA											NA				27524894		2203	4300	6503	SO:0001583	missense			AF384048	CCDS6521.1	9p21.2	2008-02-05			ENSG00000147896	ENSG00000147896	56832	56832		Interferons	21714	protein-coding gene	gene with protein product		615326			NA	12391192, 11514542	Standard	NM_020124	NM_020124	NA	Approved		uc003zqp.3	Q9P0W0	OTTHUMG00000019715	ENST00000276943.2:c.560G>A	9.37:g.27524894G>A	ENSP00000276943:p.Arg187Gln	NA	Q5T166	37	CCDS6521.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.706313	0.30232	.	.	ENSG00000147896	ENST00000276943	T	0.05447	3.44	6.16	-12.0	0.00017	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.872417	0.09714	N	0.765332	T	0.04227	0.0117	M	0.74546	2.27	0.09310	N	1	P	0.46277	0.875	B	0.33960	0.173	T	0.00204	-1.1923	10	0.72032	D	0.01	-13.632	1.707	0.02884	0.258:0.1477:0.1175:0.4768	.	187	Q9P0W0	IFNK_HUMAN	Q	187	ENSP00000276943:R187Q	ENSP00000276943:R187Q	R	+	2	0	IFNK	27514894	0.000000	0.05858	0.000000	0.03702	0.238000	0.25445	-1.383000	0.02544	-2.553000	0.00478	-0.355000	0.07637	CGA	IFNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051968.1		+	ENST00000276943.2	Missense_Mutation	SNP	9 : 27524894 - 27524894 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	217	28
LRRC6	23639	broad.mit.edu	37	8	133645086	133645086	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133645086C>T	ENST00000518642.1	-	5	618	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	LRRC6_ENST00000519595.1_Missense_Mutation_p.E185K|LRRC6_ENST00000520446.1_Intron|LRRC6_ENST00000250173.1_Missense_Mutation_p.E185K			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	185						cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGAGCCTCTTCCTTGAGTTTG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													318	283	295			NA	NA	8		NA											NA				133645086		2203	4300	6503	SO:0001583	missense			U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295	23639	23639			16725	protein-coding gene	gene with protein product	leucine rich testes protein	614930			NA	10775177, 23122586	Standard	NM_012472	NM_012472	NA	Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000518642.1:c.553G>A	8.37:g.133645086C>T	ENSP00000428610:p.Glu185Lys	NA	Q13648|Q4G183	37		.	.	.	.	.	.	.	.	.	.	C	12.30	1.895431	0.33442	.	.	ENSG00000129295	ENST00000519595;ENST00000518642;ENST00000250173;ENST00000395414	T;T;T	0.56275	0.63;0.47;0.63	5.23	3.44	0.39384	.	0.437579	0.26514	N	0.023948	T	0.36936	0.0985	L	0.28192	0.835	0.36467	D	0.867013	B	0.24368	0.102	B	0.20184	0.028	T	0.30001	-0.9993	10	0.29301	T	0.29	-12.1542	10.9021	0.47058	0.0:0.8472:0.0:0.1528	.	185	Q86X45	LRRC6_HUMAN	K	185	ENSP00000429791:E185K;ENSP00000428610:E185K;ENSP00000250173:E185K	ENSP00000250173:E185K	E	-	1	0	LRRC6	133714268	1.000000	0.71417	0.989000	0.46669	0.500000	0.33767	2.502000	0.45398	0.705000	0.31890	0.555000	0.69702	GAA	LRRC6-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000379580.1		-	ENST00000518642.1	Missense_Mutation	SNP	8 : 133645086 - 133645086 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	756	154
USHBP1	83878	broad.mit.edu	37	19	17369103	17369103	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17369103C>T	ENST00000252597.3	-	8	1311	c.1138G>A	c.(1138-1140)Gca>Aca	p.A380T	USHBP1_ENST00000431146.2_Missense_Mutation_p.A316T	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	380							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TTTTCAGCTGCTTGCAGGTCA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	82	86			NA	NA	19		NA											NA				17369103		2203	4300	6503	SO:0001583	missense			AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307	83878	83878			24058	protein-coding gene	gene with protein product		611810			NA	11311560	Standard	NM_031941	XM_005260093	NA	Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.1138G>A	19.37:g.17369103C>T	ENSP00000252597:p.Ala380Thr	NA	Q8NBX7|Q96KH3|Q9BYI8	37	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	c	9.037	0.988810	0.18966	.	.	ENSG00000130307	ENST00000252597;ENST00000431146	T;T	0.21031	2.04;2.03	4.11	1.9	0.25705	.	0.777662	0.11749	N	0.533250	T	0.15652	0.0377	L	0.56769	1.78	0.20638	N	0.999875	B;B	0.27498	0.18;0.18	B;B	0.19391	0.025;0.025	T	0.31503	-0.9941	10	0.10111	T	0.7	-0.2273	4.8094	0.13337	0.0:0.6537:0.2258:0.1206	.	316;380	B4DUE8;Q8N6Y0	.;USBP1_HUMAN	T	380;316	ENSP00000252597:A380T;ENSP00000407902:A316T	ENSP00000252597:A380T	A	-	1	0	USHBP1	17230103	0.625000	0.27111	0.533000	0.28001	0.396000	0.30629	1.827000	0.39102	0.994000	0.38892	0.544000	0.68410	GCA	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463328.1		-	ENST00000252597.3	Missense_Mutation	SNP	19 : 17369103 - 17369103 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	446	86
PPP2R5D	5528	broad.mit.edu	37	6	42974254	42974254	+	Silent	SNP	G	G	A	rs141996737		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42974254G>A	ENST00000485511.1	+	3	338	c.159G>A	c.(157-159)ccG>ccA	p.P53P	PPP2R5D_ENST00000472118.1_Silent_p.P45P|PPP2R5D_ENST00000394110.3_Silent_p.P53P|PPP2R5D_ENST00000461010.1_Intron	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	53					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ctcagccACCGTCATCCAACA	0.612		NA											G	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	EXOME	NA	NA	4e-04	SNP	Melanoma(63;587 1613 29742 31770)							NA				0								G	,,	2,4404	4.2+/-10.8	0,2,2201	48	57	54		159,159,	-10.7	0	6	dbSNP_134	54	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,intron	PPP2R5D	NM_006245.2,NM_180976.1,NM_180977.1	,,	0,2,6501	AA,AG,GG	NA	0.0,0.0454,0.0154	,,	53/603,53/571,	42974254	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640	5528	5528		Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits	9312	protein-coding gene	gene with protein product		601646	protein phosphatase 2, regulatory subunit B (B56), delta isoform, protein phosphatase 2, regulatory subunit B', delta isoform		NA	7592815	Standard	NM_006245	NM_006245	NA	Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.159G>A	6.37:g.42974254G>A		NA	A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	37	CCDS4878.1																																																																																			PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040573.3		+	ENST00000485511.1	Silent	SNP	6 : 42974254 - 42974254 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	732	37
SIGLEC1	6614	broad.mit.edu	37	20	3678683	3678683	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3678683G>A	ENST00000344754.4	-	8	1883	c.1884C>T	c.(1882-1884)agC>agT	p.S628S	SIGLEC1_ENST00000202578.4_Silent_p.S628S	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	628	Ig-like C2-type 6.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CGGGGGGGTCGCTGTCCACAC	0.677		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	20		NA											NA				3678683		2196	4292	6488	SO:0001819	synonymous_variant			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827	6614	6614		CD molecules, Sialic acid binding Ig-like lectins, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	11127	protein-coding gene	gene with protein product		600751	sialoadhesin	SN	NA	8530048	Standard	NM_023068	XM_006723610	NA	Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.1884C>T	20.37:g.3678683G>A		NA	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	37	CCDS13060.1																																																																																			SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077761.2		-	ENST00000344754.4	Silent	SNP	20 : 3678683 - 3678683 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	180	34
CTIF	9811	broad.mit.edu	37	18	46145986	46145986	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:46145986G>A	ENST00000256413.3	+	2	345	c.50G>A	c.(49-51)cGc>cAc	p.R17H	CTIF_ENST00000382998.4_Missense_Mutation_p.R17H	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	17	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GGGAGCAGCCGCTCCCAGGAG	0.637		NA											G	2	9e-04	NA	NA	2184	0.0017	0.9995	,	,	NA	5e-04	0.0013	NA	NA	0.0011	0.8236	EXOME	NA	NA	7e-04	SNP								NA				0													26	23	24			NA	NA	18		NA											NA				46145986		2201	4297	6498	SO:0001583	missense			AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030	9811	9811			23925	protein-coding gene	gene with protein product		613178	KIAA0427	KIAA0427	NA	9455477, 19648179	Standard	NM_014772	NM_014772	NA	Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.50G>A	18.37:g.46145986G>A	ENSP00000256413:p.Arg17His	NA	B3KTR8|Q8IVD5	37	CCDS11935.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	31	5.067570	0.93898	.	.	ENSG00000134030	ENST00000256413;ENST00000382998	T;T	0.57595	0.39;0.4	5.1	5.1	0.69264	.	0.338109	0.21582	N	0.072233	T	0.66616	0.2807	L	0.39898	1.24	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	T	0.69624	-0.5095	10	0.87932	D	0	.	18.1461	0.89655	0.0:0.0:1.0:0.0	.	17;17	O43310-2;O43310	.;CTIF_HUMAN	H	17	ENSP00000256413:R17H;ENSP00000372459:R17H	ENSP00000256413:R17H	R	+	2	0	CTIF	44399984	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.420000	0.97426	2.365000	0.80145	0.442000	0.29010	CGC	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255907.1		+	ENST00000256413.3	Missense_Mutation	SNP	18 : 46145986 - 46145986 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	71	11
CAMSAP3	57662	broad.mit.edu	37	19	7671252	7671252	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7671252G>T	ENST00000446248.2	+	3	599	c.498G>T	c.(496-498)gaG>gaT	p.E166D	CAMSAP3_ENST00000160298.4_Missense_Mutation_p.E166D	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	166	CH.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CCAGCTTGGAGCACAAGCTGC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	78	76			NA	NA	19		NA											NA				7671252		1983	4148	6131	SO:0001583	missense			AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826	57662	57662			29307	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 80	612685	KIAA1543	KIAA1543	NA	11318610, 10819331, 19041755, 19508979	Standard	XM_048362	NM_001080429	NA	Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000446248.2:c.498G>T	19.37:g.7671252G>T	ENSP00000416797:p.Glu166Asp	NA	Q8NDF1	37	CCDS45947.1	.	.	.	.	.	.	.	.	.	.	g	15.70	2.911864	0.52439	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.25085	1.82;2.02	4.14	1.52	0.23074	Calponin homology domain (1);	0.137740	0.46442	D	0.000283	T	0.27278	0.0669	M	0.64997	1.995	0.31962	N	0.608328	B;B	0.30326	0.276;0.041	B;B	0.35813	0.211;0.028	T	0.34204	-0.9838	10	0.48119	T	0.1	-16.5692	9.974	0.41772	0.2186:0.0:0.7814:0.0	.	166;166	Q9P1Y5;Q9P1Y5-2	CAMP3_HUMAN;.	D	166	ENSP00000416797:E166D;ENSP00000160298:E166D	ENSP00000160298:E166D	E	+	3	2	KIAA1543	7577252	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	1.525000	0.35953	0.723000	0.32274	0.289000	0.19496	GAG	CAMSAP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459301.2		+	ENST00000446248.2	Missense_Mutation	SNP	19 : 7671252 - 7671252 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	412	47
WDR1	9948	broad.mit.edu	37	4	10080531	10080531	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:10080531A>G	ENST00000499869.2	-	12	1572	c.1379T>C	c.(1378-1380)gTg>gCg	p.V460A	WDR1_ENST00000382451.2_Missense_Mutation_p.V320A|WDR1_ENST00000382452.2_Missense_Mutation_p.V460A|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000502702.1_Missense_Mutation_p.V320A			O75083	WDR1_HUMAN	WD repeat domain 1	460					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CCCAATTGCCACCGTGTCCCC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	97	91			NA	NA	4		NA											NA				10080531		2013	4173	6186	SO:0001583	missense			AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127	9948	9948		WD repeat domain containing	12754	protein-coding gene	gene with protein product		604734			NA	10036186	Standard		NM_017491	NA	Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.1379T>C	4.37:g.10080531A>G	ENSP00000427687:p.Val460Ala	NA	A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	37	CCDS54740.1	.	.	.	.	.	.	.	.	.	.	A	7.711	0.695137	0.15039	.	.	ENSG00000071127	ENST00000499869;ENST00000382452;ENST00000382451;ENST00000502702;ENST00000439733	T;T;T;T	0.54479	0.57;0.57;0.78;0.78	4.65	3.3	0.37823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.238849	0.42172	D	0.000747	T	0.37652	0.1011	L	0.33710	1.025	0.58432	D	0.999998	B;B	0.10296	0.003;0.001	B;B	0.10450	0.005;0.001	T	0.24261	-1.0165	10	0.36615	T	0.2	-18.0285	8.0394	0.30513	0.8561:0.0:0.1439:0.0	.	320;460	O75083-3;O75083	.;WDR1_HUMAN	A	460;460;320;320;295	ENSP00000427687:V460A;ENSP00000371890:V460A;ENSP00000371889:V320A;ENSP00000426725:V320A	ENSP00000371889:V320A	V	-	2	0	WDR1	9689629	0.996000	0.38824	0.986000	0.45419	0.052000	0.14988	2.015000	0.40961	1.864000	0.54056	0.379000	0.24179	GTG	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359877.1		-	ENST00000499869.2	Missense_Mutation	SNP	4 : 10080531 - 10080531 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	276	48
ENG	2022	broad.mit.edu	37	9	130587516	130587516	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130587516C>T	ENST00000344849.3	-	6	1090	c.810G>A	c.(808-810)caG>caA	p.Q270Q	ENG_ENST00000373203.4_Silent_p.Q270Q|ENG_ENST00000480266.1_5'UTR			P17813	EGLN_HUMAN	endoglin	270					artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						TCACCCAGATCTGCATGTTGT	0.602		NA							Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	59	65			NA	NA	9		NA											NA				130587516		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991	2022	2022		CD molecules	3349	protein-coding gene	gene with protein product		131195	Osler-Rendu-Weber syndrome 1	ORW1, ORW	NA	8404038, 10548503	Standard		NM_001278138	NA	Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000344849.3:c.810G>A	9.37:g.130587516C>T		NA	Q14248|Q14926|Q5T9C0	37	CCDS6880.1																																																																																			ENG-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054312.1		-	ENST00000344849.3	Silent	SNP	9 : 130587516 - 130587516 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	207	33
ZMAT1	84460	broad.mit.edu	37	X	101141638	101141638	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101141638G>A	ENST00000372782.3	-	6	618	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	ZMAT1_ENST00000540921.1_Missense_Mutation_p.R191W|ZMAT1_ENST00000458570.1_Missense_Mutation_p.R20W|ZMAT1_ENST00000494068.1_5'UTR	NM_001011657.3	NP_001011657	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	20						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						ATGTGGGACCGGAACATATCT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	115	123			NA	NA	X		NA											NA				101141638		2202	4300	6502	SO:0001583	missense			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432	84460	84460		Zinc fingers, matrin-type	29377	protein-coding gene	gene with protein product					NA		Standard		NM_001011657	NA	Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.571C>T	X.37:g.101141638G>A	ENSP00000361868:p.Arg191Trp	NA		37	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680189	0.47886	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.45668	1.86;1.86;0.89	4.94	4.08	0.47627	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.360719	0.20577	N	0.089616	T	0.36220	0.0959	L	0.47716	1.5	0.36786	D	0.884615	B	0.15473	0.013	B	0.14578	0.011	T	0.40590	-0.9555	10	0.87932	D	0	-0.1043	10.11	0.42557	0.0995:0.0:0.9005:0.0	.	191	Q5H9K5	ZMAT1_HUMAN	W	191;191;20	ENSP00000361868:R191W;ENSP00000437529:R191W;ENSP00000413044:R20W	ENSP00000361868:R191W	R	-	1	2	ZMAT1	101028294	1.000000	0.71417	0.953000	0.39169	0.968000	0.65278	4.378000	0.59568	1.201000	0.43203	0.594000	0.82650	CGG	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057598.1		-	ENST00000372782.3	Missense_Mutation	SNP	X : 101141638 - 101141638 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	127	33
NUP205	23165	broad.mit.edu	37	7	135285644	135285644	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135285644G>A	ENST00000285968.6	+	16	2327	c.2301G>A	c.(2299-2301)gaG>gaA	p.E767E	NUP205_ENST00000440390.2_3'UTR	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	767					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TGGTTTTGGAGGTGTTTTATA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	152	153			NA	NA	7		NA											NA				135285644		2203	4300	6503	SO:0001819	synonymous_variant			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561	23165	23165			18658	protein-coding gene	gene with protein product		614352	chromosome 7 open reading frame 14	C7orf14	NA	9039502, 9348540	Standard		NM_015135	NA	Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.2301G>A	7.37:g.135285644G>A		NA	A6H8X3|Q86YC1	37	CCDS34759.1																																																																																			NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340358.1		+	ENST00000285968.6	Silent	SNP	7 : 135285644 - 135285644 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	425	56
HOXB1	3211	broad.mit.edu	37	17	46607055	46607055	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46607055G>A	ENST00000239174.6	-	2	852	c.760C>T	c.(760-762)Cga>Tga	p.R254*	HOXB1_ENST00000577092.1_3'UTR	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	254						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTCATTCGTCGGTTCTGGAAC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	163	161			NA	NA	17		NA											NA				46607055		2203	4300	6503	SO:0001587	stop_gained				CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094	3211	3211		Homeoboxes / ANTP class : HOXL subclass	5111	protein-coding gene	gene with protein product		142968	homeo box B1	HOX2, HOX2I	NA	1973146, 1358459	Standard		NM_002144	NA	Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.760C>T	17.37:g.46607055G>A	ENSP00000355140:p.Arg254*	NA		37	CCDS32675.1	.	.	.	.	.	.	.	.	.	.	G	36	5.654219	0.96724	.	.	ENSG00000120094	ENST00000239174	.	.	.	5.3	5.3	0.74995	.	0.000000	0.45867	D	0.000335	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7556	0.69560	0.0:0.0:0.8551:0.1449	.	.	.	.	X	254	.	ENSP00000355140:R254X	R	-	1	2	HOXB1	43962054	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.498000	0.35660	2.769000	0.95229	0.655000	0.94253	CGA	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358383.3		-	ENST00000239174.6	Nonsense_Mutation	SNP	17 : 46607055 - 46607055 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1287	247
C16orf62	57020	broad.mit.edu	37	16	19702706	19702706	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19702706C>T	ENST00000438132.3	+	29	2874	c.2826C>T	c.(2824-2826)gaC>gaT	p.D942D	C16orf62_ENST00000542263.1_Silent_p.D849D|C16orf62_ENST00000448695.1_Silent_p.D703D|C16orf62_ENST00000543152.1_Silent_p.D602D|C16orf62_ENST00000417362.2_Silent_p.D760D|C16orf62_ENST00000251143.5_Silent_p.D853D	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	853						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						ACGGGGGAGACTCCAAGTTCC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	99	108			NA	NA	16		NA											NA				19702706		2197	4300	6497	SO:0001819	synonymous_variant				CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544	57020	57020			24641	protein-coding gene	gene with protein product					NA	10493829	Standard	NM_020314	NM_020314	NA	Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000438132.3:c.2826C>T	16.37:g.19702706C>T		NA	A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	37	CCDS32397.2																																																																																			C16orf62-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397058.2		+	ENST00000438132.3	Silent	SNP	16 : 19702706 - 19702706 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	225	54
DPYD	1806	broad.mit.edu	37	1	97564175	97564175	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:97564175A>G	ENST00000370192.3	-	21	2736	c.2636T>C	c.(2635-2637)tTt>tCt	p.F879S	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	879					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ATAAGGTCCAAAACTTGGCAG	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	83	84			NA	NA	1		NA											NA				97564175		2203	4300	6503	SO:0001583	missense			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1806	1806	1.3.1.2		3012	protein-coding gene	gene with protein product		612779			NA	7713523	Standard	NM_000110	NM_000110	NA	Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2636T>C	1.37:g.97564175A>G	ENSP00000359211:p.Phe879Ser	NA	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|Q16694|Q16761|Q96TH1	37	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.197189	0.79015	.	.	ENSG00000188641	ENST00000370192	D	0.89810	-2.57	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.94515	0.8234	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95432	0.8517	10	0.87932	D	0	-20.0261	14.7536	0.69546	1.0:0.0:0.0:0.0	.	879	Q12882	DPYD_HUMAN	S	879	ENSP00000359211:F879S	ENSP00000359211:F879S	F	-	2	0	DPYD	97336763	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.399000	0.73248	2.285000	0.76669	0.482000	0.46254	TTT	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095698.3		-	ENST00000370192.3	Missense_Mutation	SNP	1 : 97564175 - 97564175 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	246	31
EIF3A	8661	broad.mit.edu	37	10	120830529	120830529	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:120830529G>A	ENST00000369144.3	-	5	737	c.610C>T	c.(610-612)Cac>Tac	p.H204Y	EIF3A_ENST00000541549.1_Missense_Mutation_p.H170Y	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	204					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)		TGCGATAAGTGCATTCTCAAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	138	143			NA	NA	10		NA											NA				120830529		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.610C>T	10.37:g.120830529G>A	ENSP00000358140:p.His204Tyr	NA	B1AMV5|O00653|Q15778	37	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244668	0.79912	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.41400	1.0;1.0	5.69	5.69	0.88448	.	0.000000	0.40908	D	0.000981	T	0.74038	0.3664	M	0.92784	3.345	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.80243	-0.1463	10	0.87932	D	0	-24.562	19.813	0.96554	0.0:0.0:1.0:0.0	.	204	Q14152	EIF3A_HUMAN	Y	204;170	ENSP00000358140:H204Y;ENSP00000438178:H170Y	ENSP00000358140:H204Y	H	-	1	0	EIF3A	120820519	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.827000	0.99397	2.683000	0.91414	0.591000	0.81541	CAC	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050634.1		-	ENST00000369144.3	Missense_Mutation	SNP	10 : 120830529 - 120830529 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	353	72
SLC15A3	51296	broad.mit.edu	37	11	60705372	60705372	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60705372C>T	ENST00000227880.3	-	7	1794	c.1561G>A	c.(1561-1563)Ggg>Agg	p.G521R		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	521					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						AGCCAGCCCCCGGGCAAGGAC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	47	47			NA	NA	11		NA											NA				60705372		2203	4299	6502	SO:0001583	missense			AB020598	CCDS7998.1	11q12.2	2013-07-18	2013-07-18		ENSG00000110446	ENSG00000110446	51296	51296		Solute carriers	18068	protein-coding gene	gene with protein product		610408	solute carrier family 15, member 3		NA	11336635, 11741232	Standard	NM_016582	NM_016582	NA	Approved	PHT2, hPTR3	uc001nqn.2	Q8IY34	OTTHUMG00000167804	ENST00000227880.3:c.1561G>A	11.37:g.60705372C>T	ENSP00000227880:p.Gly521Arg	NA	Q9P2X9	37	CCDS7998.1	.	.	.	.	.	.	.	.	.	.	C	3.690	-0.063654	0.07273	.	.	ENSG00000110446	ENST00000536784;ENST00000227880	T	0.59364	0.27	5.08	-0.155	0.13395	Major facilitator superfamily domain, general substrate transporter (1);	0.602516	0.16041	N	0.232412	T	0.44498	0.1296	M	0.65320	2	0.09310	N	1	B	0.23490	0.086	B	0.15484	0.013	T	0.31280	-0.9949	10	0.36615	T	0.2	-9.8456	2.0854	0.03645	0.1237:0.4217:0.2409:0.2136	.	521	Q8IY34	S15A3_HUMAN	R	29;521	ENSP00000227880:G521R	ENSP00000227880:G521R	G	-	1	0	SLC15A3	60461948	0.000000	0.05858	0.002000	0.10522	0.239000	0.25481	-0.135000	0.10420	-0.108000	0.12066	-0.137000	0.14449	GGG	SLC15A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396366.1		-	ENST00000227880.3	Missense_Mutation	SNP	11 : 60705372 - 60705372 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	230	41
COLEC11	78989	broad.mit.edu	37	2	3691463	3691463	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:3691463G>A	ENST00000403096.3	+	6	984	c.493G>A	c.(493-495)Gca>Aca	p.A165T	COLEC11_ENST00000349077.4_Missense_Mutation_p.A191T|COLEC11_ENST00000402794.1_Missense_Mutation_p.A141T|COLEC11_ENST00000402922.1_Missense_Mutation_p.A141T|COLEC11_ENST00000382062.2_Missense_Mutation_p.A167T|COLEC11_ENST00000418971.2_Missense_Mutation_p.A205T|COLEC11_ENST00000404205.1_Missense_Mutation_p.A117T|COLEC11_ENST00000236693.7_Missense_Mutation_p.A188T|COLEC11_ENST00000487365.1_3'UTR	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	191	C-type lectin.					collagen	mannose binding	p.A205T(1)|p.A188T(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CCTGATGGCCGCATACCTGGC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	kidney(2)											36	40	39			NA	NA	2		NA											NA				3691463		2203	4300	6503	SO:0001583	missense			BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004	78989	78989		Collectins	17213	protein-coding gene	gene with protein product	Collectin K1	612502			NA		Standard	NM_024027	NM_024027	NA	Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000403096.3:c.493G>A	2.37:g.3691463G>A	ENSP00000385130:p.Ala165Thr	NA	A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|Q5CZ85|Q7Z6N1	37	CCDS58691.1	.	.	.	.	.	.	.	.	.	.	G	7.354	0.623376	0.14193	.	.	ENSG00000118004	ENST00000382062;ENST00000236693;ENST00000349077;ENST00000418971;ENST00000403096;ENST00000402794;ENST00000404205;ENST00000402922	T;T;T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33	5.2	-0.861	0.10676	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.695666	0.15318	N	0.268725	T	0.07413	0.0187	N	0.11313	0.125	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.22211	0.009;0.002;0.008;0.002;0.002;0.001;0.002;0.006;0.066	B;B;B;B;B;B;B;B;B	0.16289	0.003;0.002;0.002;0.002;0.002;0.002;0.003;0.015;0.007	T	0.26360	-1.0105	10	0.42905	T	0.14	-5.3795	6.5381	0.22365	0.1754:0.0:0.3207:0.5039	.	117;141;141;165;143;167;167;191;188	Q9BWP8-8;Q9BWP8-7;Q9BWP8-6;Q9BWP8-4;Q9BWP8-5;Q9BWP8-3;Q9BWP8-2;Q9BWP8;Q9BWP8-9	.;.;.;.;.;.;.;COL11_HUMAN;.	T	167;188;191;205;165;141;117;141	ENSP00000371494:A167T;ENSP00000236693:A188T;ENSP00000339168:A191T;ENSP00000411770:A205T;ENSP00000385130:A165T;ENSP00000384882:A141T;ENSP00000385827:A117T;ENSP00000385653:A141T	ENSP00000236693:A188T	A	+	1	0	COLEC11	3669338	0.628000	0.27138	0.350000	0.25708	0.027000	0.11550	2.152000	0.42272	-0.402000	0.07633	-0.444000	0.05651	GCA	COLEC11-007	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322776.1		+	ENST00000403096.3	Missense_Mutation	SNP	2 : 3691463 - 3691463 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	78
RPA1	6117	broad.mit.edu	37	17	1780550	1780550	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1780550C>T	ENST00000254719.5	+	8	742	c.632C>T	c.(631-633)aCc>aTc	p.T211I	RPA1_ENST00000573924.1_3'UTR	NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	211					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						CAGATCCGTACCTGGAGCAAC	0.493		NA						Nucleotide excision repair (NER)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	113	124			NA	NA	17		NA											NA				1780550		2203	4300	6503	SO:0001583	missense			M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383	6117	6117			10289	protein-coding gene	gene with protein product		179835	replication protein A1 (70kD)		NA	8454588	Standard	NM_002945	NM_002945	NA	Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.632C>T	17.37:g.1780550C>T	ENSP00000254719:p.Thr211Ile	NA	A8K0Y9|Q59ES9	37	CCDS11014.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994189	0.93167	.	.	ENSG00000132383	ENST00000254719	T	0.51325	0.71	5.98	5.98	0.97165	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.000000	0.85682	D	0.000000	T	0.78648	0.4316	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81856	-0.0740	10	0.54805	T	0.06	-25.4334	20.4366	0.99092	0.0:1.0:0.0:0.0	.	211	P27694	RFA1_HUMAN	I	211	ENSP00000254719:T211I	ENSP00000254719:T211I	T	+	2	0	RPA1	1727300	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.456000	0.80751	2.837000	0.97791	0.591000	0.81541	ACC	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207118.2		+	ENST00000254719.5	Missense_Mutation	SNP	17 : 1780550 - 1780550 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	261	46
TSTA3	7264	broad.mit.edu	37	8	144695733	144695733	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144695733C>T	ENST00000425753.2	-	9	874	c.771G>A	c.(769-771)gaG>gaA	p.E257E	TSTA3_ENST00000529064.1_Silent_p.E257E	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	257					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	CCACCACCGCCTCGGCTGCCT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	24	24			NA	NA	8		NA											NA				144695733		2201	4298	6499	SO:0001819	synonymous_variant			U58766	CCDS6408.1	8q24.3	2012-02-22			ENSG00000104522	ENSG00000104522	7264	7264	1.1.1.271	Short chain dehydrogenase/reductase superfamily / Extended SDR fold	12390	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 4E, member 1, GDP-L-fucose synthase	137020			NA	7803801, 1348494, 19027726	Standard	NM_003313	NM_003313	NA	Approved	FX, P35B, SDR4E1	uc003yzb.2	Q13630	OTTHUMG00000165159	ENST00000425753.2:c.771G>A	8.37:g.144695733C>T		NA	B2R8Y7|D3DWK5|Q567Q9|Q9UDG7	37	CCDS6408.1																																																																																			TSTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382263.1		-	ENST00000425753.2	Silent	SNP	8 : 144695733 - 144695733 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	117	20
GZF1	64412	broad.mit.edu	37	20	23350738	23350738	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23350738A>C	ENST00000338121.5	+	6	1873	c.1796A>C	c.(1795-1797)aAg>aCg	p.K599T	GZF1_ENST00000377051.2_Missense_Mutation_p.K599T|GZF1_ENST00000544236.1_Missense_Mutation_p.K123T|GZF1_ENST00000542987.1_Missense_Mutation_p.K108T			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	599					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					ATACACGATAAGAATACTCCA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	50	50			NA	NA	20		NA											NA				23350738		2203	4300	6503	SO:0001583	missense			AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812	64412	64412		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	15808	protein-coding gene	gene with protein product		613842	zinc finger protein 336	ZNF336	NA	14522971, 16049025	Standard	NM_022482	NM_022482	NA	Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.1796A>C	20.37:g.23350738A>C	ENSP00000338290:p.Lys599Thr	NA	A8K199|B2RBC3|B3KPL4|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	37	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	A	18.66	3.671775	0.67928	.	.	ENSG00000125812	ENST00000544236;ENST00000338121;ENST00000542987;ENST00000377051	T;T;T;T	0.11385	3.2;2.78;3.2;2.78	5.92	5.92	0.95590	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000015	T	0.23330	0.0564	L	0.28740	0.885	0.51012	D	0.999908	D	0.89917	1.0	D	0.85130	0.997	T	0.01074	-1.1460	10	0.72032	D	0.01	.	15.5459	0.76101	1.0:0.0:0.0:0.0	.	599	Q9H116	GZF1_HUMAN	T	123;599;108;599	ENSP00000445458:K123T;ENSP00000338290:K599T;ENSP00000445118:K108T;ENSP00000366250:K599T	ENSP00000338290:K599T	K	+	2	0	GZF1	23298738	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	4.209000	0.58493	2.263000	0.75096	0.533000	0.62120	AAG	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078333.1		+	ENST00000338121.5	Missense_Mutation	SNP	20 : 23350738 - 23350738 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	219	44
SLC22A8	9376	broad.mit.edu	37	11	62760994	62760994	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62760994G>T	ENST00000336232.2	-	10	1566	c.1431C>A	c.(1429-1431)atC>atA	p.I477I	SLC22A8_ENST00000545207.1_Silent_p.I386I|SLC22A8_ENST00000311438.8_Silent_p.I477I|SLC22A8_ENST00000430500.2_Silent_p.I477I|SLC22A8_ENST00000535878.1_Silent_p.I354I	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	477					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						TGATCCCGTAGATGATATTGG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	95	96			NA	NA	11		NA											NA				62760994		2201	4298	6499	SO:0001819	synonymous_variant			AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452	9376	9376		Solute carriers	10972	protein-coding gene	gene with protein product		607581			NA	10049739	Standard	NM_004254	NM_004254	NA	Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.1431C>A	11.37:g.62760994G>T		NA	O95820|Q59EW9|Q96TC1	37	CCDS8042.1																																																																																			SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396191.1		-	ENST00000336232.2	Silent	SNP	11 : 62760994 - 62760994 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	555	105
FOXP1	27086	broad.mit.edu	37	3	71096168	71096168	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:71096168G>T	ENST00000493089.1	-	10	1217	c.589C>A	c.(589-591)Ctg>Atg	p.L197M	FOXP1_ENST00000498215.1_Missense_Mutation_p.L197M|FOXP1_ENST00000468577.1_Missense_Mutation_p.L197M|FOXP1_ENST00000475937.1_Missense_Mutation_p.L197M|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000484350.1_Missense_Mutation_p.L121M|FOXP1_ENST00000491238.1_Missense_Mutation_p.L199M|FOXP1_ENST00000318789.4_Missense_Mutation_p.L197M	NM_001244808.1	NP_001231737.1	Q9H334	FOXP1_HUMAN	forkhead box P1	197	Gln-rich.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TGCAAAGACAGGAGGTGCTGC	0.517		NA	T	PAX5	ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		3	3p14.1	27086	forkhead box P1		L	0													134	133	133			NA	NA	3		NA											NA				71096168		2203	4300	6503	SO:0001583	missense			AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861	27086	27086		Forkhead boxes	3823	protein-coding gene	gene with protein product	fork head-related protein like B, glutamine-rich factor 1, PAX5/FOXP1 fusion protein	605515			NA	8265594, 11751404	Standard	NM_032682	NM_032682	NA	Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000493089.1:c.589C>A	3.37:g.71096168G>T	ENSP00000418524:p.Leu197Met	NA	A3QVP8|Q9H332|Q9H333|Q9P0R1	37	CCDS58839.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118467	0.77323	.	.	ENSG00000114861	ENST00000318789;ENST00000318796;ENST00000475937;ENST00000339693;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577;ENST00000485326;ENST00000497553	T;T;T;T;T;T;T;T;T;T	0.49139	1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.62;0.79	6.03	4.23	0.50019	.	0.226640	0.38959	N	0.001509	T	0.66208	0.2766	M	0.73217	2.22	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.995;0.995	D;D;D;D	0.78314	0.991;0.986;0.969;0.969	T	0.67612	-0.5626	10	0.54805	T	0.06	.	13.3988	0.60870	0.1291:0.0:0.8709:0.0	.	196;197;121;197	A3KMG1;G5E9V8;Q8NAN6;Q9H334	.;.;.;FOXP1_HUMAN	M	197;97;197;197;93;199;197;197;121;197;97;97	ENSP00000318902:L197M;ENSP00000419393:L197M;ENSP00000418225:L93M;ENSP00000420736:L199M;ENSP00000418524:L197M;ENSP00000418102:L197M;ENSP00000417857:L121M;ENSP00000418883:L197M;ENSP00000417941:L97M;ENSP00000418784:L97M	ENSP00000318902:L197M	L	-	1	2	FOXP1	71178858	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.976000	0.63785	0.855000	0.35359	0.655000	0.94253	CTG	FOXP1-002	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352251.1		-	ENST00000493089.1	Missense_Mutation	SNP	3 : 71096168 - 71096168 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	737	212
GAPVD1	26130	broad.mit.edu	37	9	128125011	128125011	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128125011G>A	ENST00000470056.1	+	25	4448	c.4288G>A	c.(4288-4290)Gat>Aat	p.D1430N	GAPVD1_ENST00000297933.6_Missense_Mutation_p.D1457N|GAPVD1_ENST00000495955.1_Missense_Mutation_p.D1475N|GAPVD1_ENST00000394105.2_Missense_Mutation_p.D1484N|GAPVD1_ENST00000265956.4_Missense_Mutation_p.D1449N|GAPVD1_ENST00000312123.9_Missense_Mutation_p.D1436N|GAPVD1_ENST00000394083.2_Missense_Mutation_p.D1409N|GAPVD1_ENST00000394104.2_Missense_Mutation_p.D1475N			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1475	VPS9.				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TAAAACCATCGATGACCGAAA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	88	92			NA	NA	9		NA											NA				128125011		2203	4300	6503	SO:0001583	missense				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219	26130	26130			23375	protein-coding gene	gene with protein product		611714			NA		Standard		XM_005251901	NA	Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000470056.1:c.4288G>A	9.37:g.128125011G>A	ENSP00000419767:p.Asp1430Asn	NA	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	37		.	.	.	.	.	.	.	.	.	.	G	21.4	4.148857	0.78001	.	.	ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000297933;ENST00000312123;ENST00000438537	T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.32	5.32	0.75619	Vacuolar sorting protein 9, subgroup (1);Vacuolar sorting protein 9 (2);	0.000000	0.85682	D	0.000000	T	0.39436	0.1078	L	0.48218	1.51	0.80722	D	1	P;P;D;D;D;D	0.57571	0.887;0.943;0.98;0.98;0.98;0.965	P;P;P;P;P;P	0.50082	0.614;0.63;0.61;0.61;0.61;0.61	T	0.08249	-1.0731	10	0.42905	T	0.14	.	18.3413	0.90307	0.0:0.0:1.0:0.0	.	1475;490;1430;1436;1457;1484	Q14C86;B3KTX2;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6	GAPD1_HUMAN;.;.;.;.;.	N	1430;1484;1475;1449;1409;1475;1457;1436;168	ENSP00000419767:D1430N;ENSP00000377665:D1484N;ENSP00000377664:D1475N;ENSP00000265956:D1449N;ENSP00000377645:D1409N;ENSP00000419063:D1475N;ENSP00000297933:D1457N;ENSP00000309582:D1436N	ENSP00000265956:D1449N	D	+	1	0	GAPVD1	127164832	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.325000	0.96381	2.628000	0.89032	0.655000	0.94253	GAT	GAPVD1-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000054071.4		+	ENST00000470056.1	Missense_Mutation	SNP	9 : 128125011 - 128125011 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	54
ATP8B4	79895	broad.mit.edu	37	15	50209130	50209130	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50209130C>A	ENST00000284509.6	-	20	2283		c.e20+1		ATP8B4_ENST00000559829.1_Splice_Site	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	NA					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			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		tcAACACCTACCTGAGTTCTT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													271	223	239			NA	NA	15		NA											NA				50209130		2196	4295	6491	SO:0001630	splice_region_variant			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043	79895	79895		ATPases / P-type	13536	protein-coding gene	gene with protein product		609123	ATPase, Class I, type 8B, member 4		NA	11015572	Standard	NM_024837	NM_024837	NA	Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.2141+1G>T	15.37:g.50209130C>A		NA	Q9H727	37	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077341	0.76415	.	.	ENSG00000104043	ENST00000284509	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6736	0.85273	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATP8B4	47996422	1.000000	0.71417	0.997000	0.53966	0.912000	0.54170	7.137000	0.77295	2.600000	0.87896	0.655000	0.94253	.	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418100.1	Intron	-	ENST00000284509.6	Splice_Site	SNP	15 : 50209130 - 50209130 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	337	70
DOK5	55816	broad.mit.edu	37	20	53260055	53260055	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:53260055G>A	ENST00000262593.5	+	7	1144	c.794G>A	c.(793-795)cGc>cAc	p.R265H	DOK5_ENST00000395939.1_Missense_Mutation_p.R157H	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	265							insulin receptor binding	p.R265H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			CCCCTGCCTCGCAGCGCCTAC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											56	51	53			NA	NA	20		NA											NA				53260055		2203	4300	6503	SO:0001583	missense			AF132732	CCDS13446.1, CCDS13447.1	20q13.2	2013-01-10	2002-11-28	2002-11-29	ENSG00000101134	ENSG00000101134	55816	55816		Pleckstrin homology (PH) domain containing	16173	protein-coding gene	gene with protein product		608334	chromosome 20 open reading frame 180	C20orf180	NA	11470823	Standard		XM_005260451	NA	Approved	dJ805C22.1	uc002xwy.3	Q9P104	OTTHUMG00000032778	ENST00000262593.5:c.794G>A	20.37:g.53260055G>A	ENSP00000262593:p.Arg265His	NA	Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	37	CCDS13446.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.975817	0.92982	.	.	ENSG00000101134	ENST00000262593;ENST00000395939	D;D	0.93426	-2.23;-3.22	5.29	5.29	0.74685	.	0.057208	0.64402	D	0.000001	D	0.94863	0.8340	L	0.36672	1.1	0.58432	D	0.999991	D;D	0.89917	1.0;0.995	D;D	0.80764	0.994;0.964	D	0.95295	0.8398	10	0.59425	D	0.04	-7.3495	17.9128	0.88939	0.0:0.0:1.0:0.0	.	157;265	Q9P104-2;Q9P104	.;DOK5_HUMAN	H	265;157	ENSP00000262593:R265H;ENSP00000379270:R157H	ENSP00000262593:R265H	R	+	2	0	DOK5	52693462	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	6.468000	0.73551	2.464000	0.83262	0.563000	0.77884	CGC	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079777.2		+	ENST00000262593.5	Missense_Mutation	SNP	20 : 53260055 - 53260055 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	338	66
SYT11	23208	broad.mit.edu	37	1	155850386	155850386	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155850386G>A	ENST00000368324.4	+	3	1210	c.957G>A	c.(955-957)ccG>ccA	p.P319P	SYT11_ENST00000539162.1_Silent_p.P12P	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	319	C2 2.					cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GACACTTGCCGAAGATGGATA	0.517		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	187	173	177		957	2.2	1	1		177	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SYT11	NM_152280.4		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		319/432	155850386	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718	23208	23208		Synaptotagmins	19239	protein-coding gene	gene with protein product		608741			NA	11543631	Standard	NM_152280	NM_152280	NA	Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.957G>A	1.37:g.155850386G>A		NA	Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	37	CCDS1122.1																																																																																			SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039597.1		+	ENST00000368324.4	Silent	SNP	1 : 155850386 - 155850386 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	724	31
MDH1B	130752	broad.mit.edu	37	2	207604335	207604335	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207604335T>C	ENST00000449792.1	-	10	1451	c.1216A>G	c.(1216-1218)Agt>Ggt	p.S406G	MDH1B_ENST00000374412.3_Missense_Mutation_p.S504G|MDH1B_ENST00000454776.2_Missense_Mutation_p.S503G			Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	504					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		AACTCAAGACTCTGTGGCTTT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(76;29 1355 28675 37177 51207)							NA				0													105	103	104			NA	NA	2		NA											NA				207604335		2203	4300	6503	SO:0001583	missense				CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400	130752	130752			17836	protein-coding gene	gene with protein product					NA		Standard	NM_001039845	NM_001039845	NA	Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000449792.1:c.1216A>G	2.37:g.207604335T>C	ENSP00000416577:p.Ser406Gly	NA	A8K8M1|Q53TK9|Q8IV51	37		.	.	.	.	.	.	.	.	.	.	T	12.53	1.965573	0.34659	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776	T;T;T	0.34275	1.4;1.37;1.39	3.73	-0.204	0.13200	.	0.471361	0.15781	U	0.244910	T	0.18257	0.0438	N	0.14661	0.345	0.09310	N	1	B;B	0.28291	0.206;0.131	B;B	0.25140	0.058;0.026	T	0.14504	-1.0470	10	0.87932	D	0	.	6.2416	0.20793	0.0:0.3261:0.0:0.6739	.	503;504	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	G	504;406;503	ENSP00000363533:S504G;ENSP00000416577:S406G;ENSP00000389916:S503G	ENSP00000363533:S504G	S	-	1	0	MDH1B	207312580	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.045000	0.12003	-0.117000	0.11872	-0.509000	0.04479	AGT	MDH1B-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000336795.2		-	ENST00000449792.1	Missense_Mutation	SNP	2 : 207604335 - 207604335 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	264	36
TAPT1	202018	broad.mit.edu	37	4	16192999	16192999	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:16192999G>T	ENST00000405303.2	-	4	680	c.597C>A	c.(595-597)atC>atA	p.I199I	TAPT1_ENST00000304584.8_Silent_p.I25I|TAPT1_ENST00000508888.1_5'UTR|TAPT1_ENST00000399920.3_Silent_p.I88I	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	199						integral to membrane	growth hormone-releasing hormone receptor activity			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						GCATGTTGTAGATGATGTAGA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	53	54			NA	NA	4		NA											NA				16192999		1969	4165	6134	SO:0001819	synonymous_variant			AK074494	CCDS47030.1	4p15.32	2014-01-28			ENSG00000169762	ENSG00000169762	202018	202018			26887	protein-coding gene	gene with protein product		612758			NA	12477932	Standard	NM_153365	NM_153365	NA	Approved	FLJ90013	uc010ied.1	Q6NXT6	OTTHUMG00000160177	ENST00000405303.2:c.597C>A	4.37:g.16192999G>T		NA	Q8N2S3|Q9NZK9	37	CCDS47030.1																																																																																			TAPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359568.1		-	ENST00000405303.2	Silent	SNP	4 : 16192999 - 16192999 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	60	14
CEP192	55125	broad.mit.edu	37	18	13059273	13059273	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13059273G>A	ENST00000506447.1	+	21	4530	c.4450G>A	c.(4450-4452)Gtc>Atc	p.V1484I	CEP192_ENST00000430049.2_Missense_Mutation_p.V1009I|CEP192_ENST00000325971.8_Missense_Mutation_p.V888I	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1079								p.V888I(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGCCAGCACCGTCACTCTCAC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	ovary(1)											148	136	140			NA	NA	18		NA											NA				13059273		2203	4300	6503	SO:0001583	missense			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639	55125	55125		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	25515	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 62				NA	11230166, 14654843	Standard	NM_032142	NM_032142	NA	Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000506447.1:c.4450G>A	18.37:g.13059273G>A	ENSP00000427550:p.Val1484Ile	NA		37	CCDS32792.2	.	.	.	.	.	.	.	.	.	.	G	18.33	3.601079	0.66332	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.80653	-1.4;-1.4;-1.4	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000001	D	0.89760	0.6808	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.962;0.996	D	0.90832	0.4717	10	0.87932	D	0	-15.641	18.8382	0.92171	0.0:0.0:1.0:0.0	.	1009;1484;888	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	I	1484;888;888;1009	ENSP00000427550:V1484I;ENSP00000317156:V888I;ENSP00000389190:V1009I	ENSP00000317156:V888I	V	+	1	0	CEP192	13049273	1.000000	0.71417	0.586000	0.28679	0.022000	0.10575	9.136000	0.94489	2.520000	0.84964	0.591000	0.81541	GTC	CEP192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361790.1		+	ENST00000506447.1	Missense_Mutation	SNP	18 : 13059273 - 13059273 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	561	96
HEATR1	55127	broad.mit.edu	37	1	236755883	236755883	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236755883G>T	ENST00000366582.3	-	10	1358	c.1244C>A	c.(1243-1245)tCt>tAt	p.S415Y	HEATR1_ENST00000366581.2_Missense_Mutation_p.S415Y	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	415					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CACTTTATTAGAATCCATTTC	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	53	56			NA	NA	1		NA											NA				236755883		2197	4289	6486	SO:0001583	missense			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285	55127	55127			25517	protein-coding gene	gene with protein product	UTP10, small subunit (SSU) processome component, homolog (yeast)				NA	17699751	Standard	XM_375853	NM_018072	NA	Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.1244C>A	1.37:g.236755883G>T	ENSP00000355541:p.Ser415Tyr	NA	Q5T3Q8|Q6P197|Q9NW23	37	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.512596	0.27123	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.68624	3.36;-0.34	5.25	5.25	0.73442	Armadillo-type fold (1);	0.651120	0.15867	N	0.240715	T	0.65186	0.2667	L	0.50333	1.59	0.80722	D	1	P	0.45474	0.859	B	0.40101	0.319	T	0.70547	-0.4842	10	0.62326	D	0.03	.	18.8399	0.92180	0.0:0.0:1.0:0.0	.	415	Q9H583	HEAT1_HUMAN	Y	415	ENSP00000355541:S415Y;ENSP00000355540:S415Y	ENSP00000355540:S415Y	S	-	2	0	HEATR1	234822506	0.641000	0.27251	0.057000	0.19452	0.292000	0.27327	4.352000	0.59404	2.458000	0.83093	0.650000	0.86243	TCT	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096635.1		-	ENST00000366582.3	Missense_Mutation	SNP	1 : 236755883 - 236755883 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	66	12
ATAD2B	54454	broad.mit.edu	37	2	24033200	24033200	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24033200C>A	ENST00000238789.5	-	18	2783	c.2440G>T	c.(2440-2442)Gaa>Taa	p.E814*	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	814							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCACATGATTCCTCAGGTGTT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	95	94			NA	NA	2		NA											NA				24033200		1888	4121	6009	SO:0001587	stop_gained			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778	54454	54454		ATPases / AAA-type	29230	protein-coding gene	gene with protein product		615347			NA		Standard	NM_017552	XM_005264372	NA	Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.2440G>T	2.37:g.24033200C>A	ENSP00000238789:p.Glu814*	NA	B9ZVQ5|Q6ZNA6|Q8N9E7	37	CCDS46227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	10.798718|10.798718	0.99470|0.99470	.|.	.|.	ENSG00000119778|ENSG00000119778	ENST00000238789|ENST00000381024	.|.	.|.	.|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.546240|.	0.19494|.	N|.	0.112908|.	.|T	.|0.79747	.|0.4499	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77713	.|-0.2485	.|3	0.36615|.	T|.	0.2|.	.|.	19.7937|19.7937	0.96469|0.96469	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|S	814|94	.|.	ENSP00000238789:E814X|.	E|R	-|-	1|3	0|2	ATAD2B|ATAD2B	23886704|23886704	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.818000|7.818000	0.86416|0.86416	2.749000|2.749000	0.94314|0.94314	0.655000|0.655000	0.94253|0.94253	GAA|AGG	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324333.1		-	ENST00000238789.5	Nonsense_Mutation	SNP	2 : 24033200 - 24033200 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	277	37
TUBGCP6	85378	broad.mit.edu	37	22	50671771	50671771	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50671771C>T	ENST00000248846.5	-	3	1194	c.1090G>A	c.(1090-1092)Gtg>Atg	p.V364M	TUBGCP6_ENST00000439308.2_Missense_Mutation_p.V364M			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	364					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GTGGCAGACACGACCCCAATC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	58	76			NA	NA	22		NA											NA				50671771		2203	4300	6503	SO:0001583	missense			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159	85378	85378			18127	protein-coding gene	gene with protein product	gamma-tubulin complex component 6	610053			NA	11694571, 11258795	Standard	NM_020461	XR_244458	NA	Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.1090G>A	22.37:g.50671771C>T	ENSP00000248846:p.Val364Met	NA	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	37	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379591	0.61845	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.07908	3.15;3.15	5.69	3.55	0.40652	.	0.603759	0.17925	N	0.157367	T	0.08670	0.0215	L	0.53249	1.67	0.09310	N	1	P;P	0.49862	0.929;0.929	B;B	0.37198	0.243;0.243	T	0.17167	-1.0378	10	0.48119	T	0.1	.	11.0148	0.47682	0.0:0.7994:0.1299:0.0707	.	364;364	B2RWN4;Q96RT7	.;GCP6_HUMAN	M	364	ENSP00000248846:V364M;ENSP00000397387:V364M	ENSP00000248846:V364M	V	-	1	0	TUBGCP6	49013898	0.836000	0.29430	0.004000	0.12327	0.773000	0.43773	4.750000	0.62162	0.715000	0.32103	0.561000	0.74099	GTG	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075004.3		-	ENST00000248846.5	Missense_Mutation	SNP	22 : 50671771 - 50671771 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	176	24
AKR1C4	1109	broad.mit.edu	37	10	5247767	5247767	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5247767C>T	ENST00000380448.1	+	6	670	c.417C>T	c.(415-417)ttC>ttT	p.F139F	AKR1C4_ENST00000263126.1_Silent_p.F139F			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	139					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity	p.F139F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	AAGTAATATTCGACACAGTGG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											139	118	125			NA	NA	10		NA											NA				5247767		2203	4300	6503	SO:0001819	synonymous_variant			M33375	CCDS7064.1	10p15.1	2012-12-04	2012-12-04		ENSG00000198610	ENSG00000198610	1109	1109	1.1.1.225	Aldo-keto reductases	387	protein-coding gene	gene with protein product	chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4	600451	aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)	CHDR	NA	7789999	Standard	NM_001818	NM_001818	NA	Approved	DD4, HAKRA, C11, 3-alpha-HSD, CDR, MGC22581	uc001ihw.2	P17516	OTTHUMG00000017591	ENST00000380448.1:c.417C>T	10.37:g.5247767C>T		NA	Q5T6A3|Q8WW84|Q9NS54	37	CCDS7064.1																																																																																			AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046543.2		+	ENST00000380448.1	Silent	SNP	10 : 5247767 - 5247767 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	341	64
DAAM2	23500	broad.mit.edu	37	6	39864744	39864744	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39864744C>A	ENST00000398904.2	+	20	2680	c.2498C>A	c.(2497-2499)tCc>tAc	p.S833Y	RP11-61I13.3_ENST00000420293.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.S833Y|RP11-61I13.3_ENST00000606829.1_RNA|RP11-61I13.3_ENST00000430595.1_RNA|DAAM2_ENST00000538976.1_Missense_Mutation_p.S833Y			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	833	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GACACCAAGTCCAGCATCGAC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	46	44			NA	NA	6		NA											NA				39864744		2061	4195	6256	SO:0001583	missense			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122	23500	23500			18143	protein-coding gene	gene with protein product		606627			NA	11779461, 12632087	Standard		NM_015345	NA	Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2498C>A	6.37:g.39864744C>A	ENSP00000381876:p.Ser833Tyr	NA	Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	37	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692462	0.88735	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.69040	-0.37;-0.37;-0.37	4.66	4.66	0.58398	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.141332	0.49305	D	0.000143	D	0.84857	0.5565	H	0.94964	3.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89137	0.3514	10	0.87932	D	0	.	16.4674	0.84083	0.0:1.0:0.0:0.0	.	833;833	G5EA45;Q86T65	.;DAAM2_HUMAN	Y	833	ENSP00000274867:S833Y;ENSP00000381876:S833Y;ENSP00000437808:S833Y	ENSP00000274867:S833Y	S	+	2	0	DAAM2	39972722	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.645000	0.83430	2.433000	0.82419	0.561000	0.74099	TCC	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280648.1		+	ENST00000398904.2	Missense_Mutation	SNP	6 : 39864744 - 39864744 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	238	45
CTB-186H2.3	0	broad.mit.edu	37	17	34313705	34313705	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34313705G>T	ENST00000591669.1	+	2	277	c.151G>T	c.(151-153)Gga>Tga	p.G51*	CCL14_ENST00000536149.1_5'UTR|CCL14_ENST00000394509.4_5'UTR|CCL15-CCL14_ENST00000481427.2_3'UTR|CCL14_ENST00000480944.2_5'UTR|CTB-186H2.3_ENST00000593057.1_3'UTR|CCL14_ENST00000586216.1_5'UTR						NA											NA						AGCTGTTGTGGGAGGAGAGCT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	109	123			NA	NA	17		NA											NA				34313705		2203	4300	6503	SO:0001587	stop_gained											NA	NA			NA							NA					NA						ENST00000591669.1:c.151G>T	17.37:g.34313705G>T	ENSP00000467129:p.Gly51*	NA		37																																																																																				CTB-186H2.3-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000450222.1		+	ENST00000591669.1	Nonsense_Mutation	SNP	17 : 34313705 - 34313705 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	194	37
ASPH	444	broad.mit.edu	37	8	62465611	62465611	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:62465611C>T	ENST00000379454.4	-	20	1792	c.1605G>A	c.(1603-1605)atG>atA	p.M535I	ASPH_ENST00000541428.1_Missense_Mutation_p.M506I	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	535					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CAACCCTCTGCATGGCATCCC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													217	236	230			NA	NA	8		NA											NA				62465611		2203	4300	6503	SO:0001583	missense			AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	444	444	1.14.11.16		757	protein-coding gene	gene with protein product	junctin, humbug, junctate	600582			NA	7821814, 10974562	Standard	NM_004318	NM_004318	NA	Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.1605G>A	8.37:g.62465611C>T	ENSP00000368767:p.Met535Ile	NA	A6NDF4|A6NHI2|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	37	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345436	0.61073	.	.	ENSG00000198363	ENST00000541428;ENST00000379454	T;T	0.29917	1.56;1.55	5.73	5.73	0.89815	Tetratricopeptide-like helical (1);	0.122777	0.56097	D	0.000023	T	0.21550	0.0519	N	0.14661	0.345	0.80722	D	1	B;B	0.29988	0.264;0.172	B;B	0.29785	0.107;0.05	T	0.05835	-1.0861	10	0.54805	T	0.06	-21.9674	15.0308	0.71705	0.0:0.9303:0.0:0.0697	.	506;535	F5H667;Q12797	.;ASPH_HUMAN	I	506;535	ENSP00000437864:M506I;ENSP00000368767:M535I	ENSP00000368767:M535I	M	-	3	0	ASPH	62628165	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.560000	0.53763	2.700000	0.92200	0.655000	0.94253	ATG	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378510.3		-	ENST00000379454.4	Missense_Mutation	SNP	8 : 62465611 - 62465611 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1314	276
STAB1	23166	broad.mit.edu	37	3	52543325	52543325	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52543325C>T	ENST00000321725.6	+	22	2411	c.2335C>T	c.(2335-2337)Caa>Taa	p.Q779*		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	779					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)		GCATGGAGAGCAATGCCAGGA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	69	74			NA	NA	3		NA											NA				52543325		2202	4300	6502	SO:0001587	stop_gained			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.2335C>T	3.37:g.52543325C>T	ENSP00000312946:p.Gln779*	NA	A7E297|Q8IUH0|Q8IUH1|Q93072	37	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	36	5.697297	0.96802	.	.	ENSG00000010327	ENST00000321725	.	.	.	5.57	4.68	0.58851	.	0.551778	0.18049	N	0.153326	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	8.8752	0.35340	0.2981:0.5574:0.1445:0.0	.	.	.	.	X	779	.	ENSP00000312946:Q779X	Q	+	1	0	STAB1	52518365	0.995000	0.38212	0.954000	0.39281	0.441000	0.31987	4.142000	0.58044	1.316000	0.45131	0.561000	0.74099	CAA	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351380.2		+	ENST00000321725.6	Nonsense_Mutation	SNP	3 : 52543325 - 52543325 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	208	36
FHDC1	85462	broad.mit.edu	37	4	153897796	153897796	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:153897796C>A	ENST00000511601.1	+	12	3541	c.3353C>A	c.(3352-3354)gCt>gAt	p.A1118D	FHDC1_ENST00000260008.3_Missense_Mutation_p.A1118D			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	1118					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GCCAGAGGGGCTGGGGAAAGG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	15	14			NA	NA	4		NA											NA				153897796		2195	4293	6488	SO:0001583	missense			AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460	85462	85462			29363	protein-coding gene	gene with protein product					NA	15138637	Standard	NM_033393	NM_033393	NA	Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.3353C>A	4.37:g.153897796C>A	ENSP00000427567:p.Ala1118Asp	NA		37	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.001636	0.35320	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.32515	1.45;1.45	5.42	-1.08	0.09936	.	1.740290	0.02777	N	0.120404	T	0.19846	0.0477	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.20009	-1.0288	10	0.45353	T	0.12	.	4.6293	0.12493	0.2264:0.3667:0.0:0.4069	.	1118	Q9C0D6	FHDC1_HUMAN	D	1118	ENSP00000427567:A1118D;ENSP00000260008:A1118D	ENSP00000260008:A1118D	A	+	2	0	FHDC1	154117246	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.058000	0.14301	-0.286000	0.09076	-0.181000	0.13052	GCT	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364981.2		+	ENST00000511601.1	Missense_Mutation	SNP	4 : 153897796 - 153897796 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	103	25
OPRM1	4988	broad.mit.edu	37	6	154412127	154412127	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:154412127G>T	ENST00000522236.1	+	3	1692	c.384G>T	c.(382-384)tgG>tgT	p.W128C	OPRM1_ENST00000435918.2_Missense_Mutation_p.W228C|OPRM1_ENST00000330432.7_Missense_Mutation_p.W228C|OPRM1_ENST00000452687.2_Missense_Mutation_p.W228C|OPRM1_ENST00000337049.4_Missense_Mutation_p.W228C|OPRM1_ENST00000360422.4_Missense_Mutation_p.W228C|OPRM1_ENST00000428397.2_Missense_Mutation_p.W228C|OPRM1_ENST00000522555.1_Missense_Mutation_p.W128C|OPRM1_ENST00000419506.2_Missense_Mutation_p.W228C|OPRM1_ENST00000524163.1_Missense_Mutation_p.W228C|OPRM1_ENST00000414028.2_Missense_Mutation_p.W228C|OPRM1_ENST00000518759.1_Missense_Mutation_p.W147C|OPRM1_ENST00000229768.5_Missense_Mutation_p.W228C|OPRM1_ENST00000520708.1_Missense_Mutation_p.W128C|OPRM1_ENST00000434900.2_Missense_Mutation_p.W321C	NM_001145287.1	NP_001138759.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	228					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	ATCCAACCTGGTACTGGGAAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													197	179	185			NA	NA	6		NA											NA				154412127		1962	4177	6139	SO:0001583	missense			L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038	4988	4988		GPCR / Class A : Opioid receptors	8156	protein-coding gene	gene with protein product		600018			NA		Standard	NM_000914	NM_001145285	NA	Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000522236.1:c.384G>T	6.37:g.154412127G>T	ENSP00000429373:p.Trp128Cys	NA	B2R9S7|B8Q1L7|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UQ80|Q7Z2D8|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	37	CCDS55071.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.503709	0.64298	.	.	ENSG00000112038	ENST00000434900;ENST00000520708;ENST00000518759;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049;ENST00000522555;ENST00000522236	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21	5.82	5.82	0.92795	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.57213	0.2038	M	0.76838	2.35	0.80722	D	1	D;D;D;D;D;D;P;D;D;D;D;D	0.89917	1.0;0.996;0.996;1.0;0.997;0.98;0.946;0.998;0.997;0.998;0.997;0.993	D;P;P;D;D;D;P;D;D;D;D;P	0.91635	0.999;0.887;0.887;0.999;0.936;0.932;0.886;0.936;0.932;0.927;0.936;0.887	T	0.52689	-0.8542	10	0.39692	T	0.17	.	20.0966	0.97849	0.0:0.0:1.0:0.0	.	228;228;228;228;321;147;128;228;228;228;228;228	P35372-4;P35372-8;P35372-11;P35372-9;P35372-10;B8Q1L9;Q6UPP1;P35372-5;P35372;P35372-7;P35372-3;P35372-2	.;.;.;.;.;.;.;.;OPRM_HUMAN;.;.;.	C	321;128;147;228;228;228;228;228;228;228;228;228;228;128;128	ENSP00000394624:W321C;ENSP00000430876:W128C;ENSP00000430260:W147C;ENSP00000328264:W228C;ENSP00000353598:W228C;ENSP00000411903:W228C;ENSP00000410497:W228C;ENSP00000229768:W228C;ENSP00000403549:W228C;ENSP00000430097:W228C;ENSP00000399359:W228C;ENSP00000413752:W228C;ENSP00000338381:W228C;ENSP00000429719:W128C;ENSP00000429373:W128C	ENSP00000229768:W228C	W	+	3	0	OPRM1	154453820	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.751000	0.94390	0.650000	0.86243	TGG	OPRM1-020	PUTATIVE	alternative_5_UTR|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375975.1		+	ENST00000522236.1	Missense_Mutation	SNP	6 : 154412127 - 154412127 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	797	138
SDR16C5	195814	broad.mit.edu	37	8	57228591	57228591	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:57228591A>C	ENST00000522671.1	-	2	1047	c.316T>G	c.(316-318)Tat>Gat	p.Y106D	SDR16C5_ENST00000303749.3_Missense_Mutation_p.Y106D|SDR16C5_ENST00000396721.2_Missense_Mutation_p.Y106D			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	106					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						GCTACTCTATACACTCCTTCC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	113	111			NA	NA	8		NA											NA				57228591		2203	4300	6503	SO:0001583	missense				CCDS6167.1	8q12.1	2011-09-20			ENSG00000170786	ENSG00000170786	195814	195814	1.1.1.-	Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3	30311	protein-coding gene	gene with protein product		608989			NA	12372410	Standard	NM_138969	NM_138969	NA	Approved	RDHE2, RDH-E2	uc003xsy.1	Q8N3Y7	OTTHUMG00000164311	ENST00000522671.1:c.316T>G	8.37:g.57228591A>C	ENSP00000431010:p.Tyr106Asp	NA	B4DGK2|Q330K3|Q8TDV9|Q96LX1	37		.	.	.	.	.	.	.	.	.	.	A	16.62	3.174254	0.57692	.	.	ENSG00000170786	ENST00000396721;ENST00000303749;ENST00000522671;ENST00000538514	D;D;D	0.86627	-2.15;-2.15;-2.15	5.14	5.14	0.70334	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.85609	0.5736	N	0.04116	-0.275	0.80722	D	1	P;D;D	0.89917	0.86;1.0;1.0	P;D;D	0.97110	0.535;0.995;1.0	D	0.89344	0.3656	10	0.62326	D	0.03	.	14.9552	0.71107	1.0:0.0:0.0:0.0	.	106;106;106	Q8N3Y7-2;G3V145;Q8N3Y7	.;.;RDHE2_HUMAN	D	106	ENSP00000379947:Y106D;ENSP00000307607:Y106D;ENSP00000431010:Y106D	ENSP00000307607:Y106D	Y	-	1	0	SDR16C5	57391145	1.000000	0.71417	0.042000	0.18584	0.429000	0.31625	8.928000	0.92853	1.950000	0.56595	0.460000	0.39030	TAT	SDR16C5-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000378236.1		-	ENST00000522671.1	Missense_Mutation	SNP	8 : 57228591 - 57228591 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	738	145
MED23	9439	broad.mit.edu	37	6	131919805	131919805	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131919805C>T	ENST00000368068.3	-	19	2496	c.2317G>A	c.(2317-2319)Gaa>Aaa	p.E773K	MED23_ENST00000368053.4_Missense_Mutation_p.E779K|MED23_ENST00000540546.1_Missense_Mutation_p.E779K|MED23_ENST00000368058.1_Missense_Mutation_p.E779K|MED23_ENST00000403834.3_Missense_Mutation_p.E779K|MED23_ENST00000545957.1_Missense_Mutation_p.E414K|MED23_ENST00000354577.4_Missense_Mutation_p.E779K|MED23_ENST00000368060.3_Missense_Mutation_p.E773K	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	773					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		ATGTCGTTTTCGTTGCTCATT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													193	182	186			NA	NA	6		NA											NA				131919805		2203	4300	6503	SO:0001583	missense			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282	9439	9439			2372	protein-coding gene	gene with protein product		605042	cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa	CRSP3	NA	9989412	Standard		NM_004830	NA	Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.2317G>A	6.37:g.131919805C>T	ENSP00000357047:p.Glu773Lys	NA	O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	37	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	C	35	5.590256	0.96590	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546	T;T;T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.87212	0.6121	L	0.58810	1.83	0.80722	D	1	D;D;D;D	0.89917	1.0;0.995;1.0;1.0	D;D;D;D	0.80764	0.993;0.956;0.994;0.99	D	0.84986	0.0891	10	0.49607	T	0.09	-0.1527	20.8794	0.99867	0.0:1.0:0.0:0.0	.	414;779;773;779	B4E3G4;Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;.;MED23_HUMAN;.	K	779;773;779;773;779;414;779;779	ENSP00000346588:E779K;ENSP00000357047:E773K;ENSP00000384536:E779K;ENSP00000357039:E773K;ENSP00000357037:E779K;ENSP00000439977:E414K;ENSP00000357032:E779K;ENSP00000437818:E779K	ENSP00000346588:E779K	E	-	1	0	MED23	131961498	1.000000	0.71417	0.991000	0.47740	0.900000	0.52787	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAA	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042215.1		-	ENST00000368068.3	Missense_Mutation	SNP	6 : 131919805 - 131919805 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	429	80
WIPF2	147179	broad.mit.edu	37	17	38421339	38421339	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38421339C>T	ENST00000323571.4	+	5	1151	c.911C>T	c.(910-912)cCa>cTa	p.P304L	WIPF2_ENST00000583130.1_Missense_Mutation_p.P304L|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000585043.1_Missense_Mutation_p.P304L|WIPF2_ENST00000394103.3_Intron	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	304						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						TCGGCCTCCCCATCTTTACTG	0.582		NA								HNSCC(43;0.11)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	56	53			NA	NA	17		NA											NA				38421339		2201	4299	6500	SO:0001583	missense			BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475	147179	147179			30923	protein-coding gene	gene with protein product		609692			NA	12213210, 11829459	Standard	NM_133264	XM_005257083	NA	Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.911C>T	17.37:g.38421339C>T	ENSP00000320924:p.Pro304Leu	NA	A8K0L3|Q658J8|Q71RE1|Q8TE44	37	CCDS11364.1	.	.	.	.	.	.	.	.	.	.	C	9.838	1.190324	0.21954	.	.	ENSG00000171475	ENST00000323571	T	0.33438	1.41	5.82	5.82	0.92795	.	0.125722	0.64402	D	0.000020	T	0.17152	0.0412	N	0.11255	0.115	0.80722	D	1	B	0.17038	0.02	B	0.15052	0.012	T	0.12400	-1.0549	10	0.20046	T	0.44	-7.7117	13.026	0.58814	0.0:0.9261:0.0:0.0739	.	304	Q8TF74	WIPF2_HUMAN	L	304	ENSP00000320924:P304L	ENSP00000320924:P304L	P	+	2	0	WIPF2	35674865	0.776000	0.28616	0.995000	0.50966	0.892000	0.51952	4.679000	0.61649	2.767000	0.95098	0.555000	0.69702	CCA	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257157.2		+	ENST00000323571.4	Missense_Mutation	SNP	17 : 38421339 - 38421339 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	605	117
REPS1	85021	broad.mit.edu	37	6	139265101	139265101	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139265101G>A	ENST00000450536.2	-	6	1379	c.805C>T	c.(805-807)Cgt>Tgt	p.R269C	REPS1_ENST00000367663.4_Missense_Mutation_p.R269C|REPS1_ENST00000409812.2_Missense_Mutation_p.R269C|REPS1_ENST00000258062.5_Missense_Mutation_p.R269C|REPS1_ENST00000415951.2_Missense_Mutation_p.R269C			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	269						coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		GATTGCCTACGAATTTCAATG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	137	142			NA	NA	6		NA											NA				139265101		2203	4300	6503	SO:0001583	missense				CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597	85021	85021		EF-hand domain containing	15578	protein-coding gene	gene with protein product		614825			NA		Standard		XM_005267177	NA	Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.805C>T	6.37:g.139265101G>A	ENSP00000392065:p.Arg269Cys	NA	B7ZBZ8|B7ZBZ9|B7ZC00|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	37		.	.	.	.	.	.	.	.	.	.	G	24.3	4.513044	0.85389	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T;T	0.32988	1.44;1.43;1.45;1.45;1.43;1.43	6.01	6.01	0.97437	.	0.048115	0.85682	D	0.000000	T	0.34513	0.0900	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	P;P;D;P	0.63488	0.851;0.897;0.915;0.794	T	0.13019	-1.0525	10	0.59425	D	0.04	-11.6175	20.5211	0.99222	0.0:0.0:1.0:0.0	.	269;269;269;269	Q96D71-3;Q96D71-2;Q96D71;E9PMG1	.;.;REPS1_HUMAN;.	C	269;269;255;269;269;269;217	ENSP00000392065:R269C;ENSP00000356635:R269C;ENSP00000434251:R255C;ENSP00000386699:R269C;ENSP00000258062:R269C;ENSP00000397941:R269C	ENSP00000258062:R269C	R	-	1	0	REPS1	139306794	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.434000	0.97515	2.861000	0.98227	0.650000	0.86243	CGT	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000042447.3		-	ENST00000450536.2	Missense_Mutation	SNP	6 : 139265101 - 139265101 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	318	49
TTN	7273	broad.mit.edu	37	2	179497134	179497134	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179497134C>A	ENST00000589042.1	-	236	43711	c.43487G>T	c.(43486-43488)cGg>cTg	p.R14496L	TTN_ENST00000591111.1_Missense_Mutation_p.R12855L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R5556L|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R5431L|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R11928L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R5623L|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12855	Fibronectin type-III 4.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAATTTGAGCCGGATTCCTAT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	46	48			NA	NA	2		NA											NA				179497134		1828	4072	5900	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.43487G>T	2.37:g.179497134C>A	ENSP00000467141:p.Arg14496Leu	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.866084	0.32977	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	6.1	6.1	0.99115	Immunoglobulin subtype (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86690	0.5993	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.995;0.995;0.995;0.995	D	0.86400	0.1741	9	0.87932	D	0	.	20.7146	0.99709	0.0:1.0:0.0:0.0	.	5431;5556;5623;12855	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	11928;5431;5623;5556;5431	ENSP00000343764:R11928L;ENSP00000434586:R5431L;ENSP00000340554:R5623L;ENSP00000352154:R5556L	ENSP00000340554:R5623L	R	-	2	0	TTN	179205379	1.000000	0.71417	0.978000	0.43139	0.408000	0.30992	7.768000	0.85345	2.902000	0.99343	0.650000	0.86243	CGG	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179497134 - 179497134 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	83	22
SLC43A2	124935	broad.mit.edu	37	17	1494748	1494748	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1494748C>T	ENST00000412517.3	-	4	590	c.335G>A	c.(334-336)aGc>aAc	p.S112N	SLC43A2_ENST00000571650.1_Missense_Mutation_p.S249N|SLC43A2_ENST00000382147.4_Missense_Mutation_p.S249N|SLC43A2_ENST00000574274.1_5'UTR|SLC43A2_ENST00000301335.5_Missense_Mutation_p.S249N			Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	249					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		GCCCAGCCAGCTGAACTTGAT	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	65	67			NA	NA	17		NA											NA				1494748		2203	4300	6503	SO:0001583	missense			BC027923	CCDS11006.1, CCDS67107.1, CCDS67108.1	17p13.3	2013-07-17	2013-07-17		ENSG00000167703	ENSG00000167703	124935	124935		Solute carriers	23087	protein-coding gene	gene with protein product		610791			NA	23268354	Standard	NM_152346	NM_001284498	NA	Approved	MGC34680	uc002fsv.3	Q8N370	OTTHUMG00000090345	ENST00000412517.3:c.335G>A	17.37:g.1494748C>T	ENSP00000408284:p.Ser112Asn	NA	D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	37		.	.	.	.	.	.	.	.	.	.	C	23.9	4.465755	0.84425	.	.	ENSG00000167703	ENST00000301335;ENST00000382147;ENST00000412517	T;T;T	0.34275	1.83;1.85;1.37	6.07	6.07	0.98685	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.55529	0.1926	L	0.49350	1.555	0.80722	D	1	D;D;B;B	0.71674	0.998;0.998;0.182;0.151	D;D;B;B	0.80764	0.957;0.994;0.058;0.144	T	0.30268	-0.9984	10	0.19147	T	0.46	-21.9657	20.6439	0.99570	0.0:1.0:0.0:0.0	.	112;249;249;249	B7Z6X9;Q8N370-2;Q8N370;Q8N370-3	.;.;LAT4_HUMAN;.	N	249;249;112	ENSP00000301335:S249N;ENSP00000371582:S249N;ENSP00000408284:S112N	ENSP00000301335:S249N	S	-	2	0	SLC43A2	1441498	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.666000	0.61554	2.884000	0.98904	0.655000	0.94253	AGC	SLC43A2-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000438567.1		-	ENST00000412517.3	Missense_Mutation	SNP	17 : 1494748 - 1494748 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	510	86
TTN	7273	broad.mit.edu	37	2	179547466	179547466	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179547466G>A	ENST00000589042.1	-	135	33276	c.33052C>T	c.(33052-33054)Cgg>Tgg	p.R11018W	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R10701W|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R9774W|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10701	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R9774W(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATACTCCCGCTCCTCGTAT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)						G	,,,TRP/ARG	0,3780		0,0,1890	299	282	287		,,,29320	4.6	0	2		287	1,8215		0,1,4107	no	intron,intron,intron,missense	TTN	NM_003319.4,NM_133432.3,NM_133437.3,NM_133378.4	,,,101	0,1,5997	AA,AG,GG	NA	0.0122,0.0,0.0083	,,,benign	,,,9774/33424	179547466	1,11995	1890	4108	5998	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.33052C>T	2.37:g.179547466G>A	ENSP00000467141:p.Arg11018Trp	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	G	7.966	0.748107	0.15710	0.0	1.22E-4	ENSG00000155657	ENST00000342992;ENST00000414766	T;T	0.70516	-0.49;-0.13	5.45	4.55	0.56014	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.54615	0.1869	N	0.14661	0.345	0.09310	N	0.999995	B;B	0.11235	0.001;0.004	B;B	0.08055	0.001;0.003	T	0.48681	-0.9014	9	0.87932	D	0	.	11.0493	0.47878	0.1365:0.0:0.8635:0.0	.	10701;10437	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	W	9774;632	ENSP00000343764:R9774W;ENSP00000401501:R632W	ENSP00000343764:R9774W	R	-	1	2	TTN	179255711	0.009000	0.17119	0.011000	0.14972	0.004000	0.04260	1.371000	0.34250	2.725000	0.93324	0.655000	0.94253	CGG	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179547466 - 179547466 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1077	241
TTC16	158248	broad.mit.edu	37	9	130485513	130485513	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130485513C>T	ENST00000373289.3	+	7	853	c.773C>T	c.(772-774)gCg>gTg	p.A258V	PTRH1_ENST00000429848.1_Intron|PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000393748.4_Missense_Mutation_p.A82V|TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	258							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						CGCCAAGATGCGGGGATCCTG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	58	59			NA	NA	9		NA											NA				130485513		2203	4300	6503	SO:0001583	missense			AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094	158248	158248		Tetratricopeptide (TTC) repeat domain containing	26536	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_144965	NM_144965	NA	Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.773C>T	9.37:g.130485513C>T	ENSP00000362386:p.Ala258Val	NA	Q5JU66|Q96M72	37	CCDS6875.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787800	0.49997	.	.	ENSG00000167094	ENST00000373289;ENST00000393748;ENST00000316259	T;T	0.64991	2.18;-0.13	4.99	4.99	0.66335	Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.77798	0.4184	M	0.76328	2.33	0.20975	N	0.999814	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.70313	-0.4906	10	0.72032	D	0.01	-27.8116	13.6986	0.62595	0.0:1.0:0.0:0.0	.	245;210;258	B4DZ42;B4DH05;Q8NEE8	.;.;TTC16_HUMAN	V	258;82;203	ENSP00000362386:A258V;ENSP00000377349:A82V	ENSP00000319048:A203V	A	+	2	0	TTC16	129525334	0.957000	0.32711	0.133000	0.22050	0.022000	0.10575	2.502000	0.45398	2.619000	0.88677	0.456000	0.33151	GCG	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054224.1		+	ENST00000373289.3	Missense_Mutation	SNP	9 : 130485513 - 130485513 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	299	46
PNPLA8	50640	broad.mit.edu	37	7	108155556	108155556	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:108155556G>A	ENST00000453144.1	-	2	622	c.80C>T	c.(79-81)gCt>gTt	p.A27V	PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000436062.1_Missense_Mutation_p.A127V|PNPLA8_ENST00000422087.1_Missense_Mutation_p.A127V|PNPLA8_ENST00000257694.8_Missense_Mutation_p.A127V|PNPLA8_ENST00000426128.2_Missense_Mutation_p.A127V|PNPLA8_ENST00000388728.5_Missense_Mutation_p.A127V	NM_001256010.1	NP_001242939.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	127					fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						CTTAAATTGAGCTAAACGTGA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	61	60			NA	NA	7		NA											NA				108155556		2203	4299	6502	SO:0001583	missense			AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241	50640	50640		Patatin-like phospholipase domain containing	28900	protein-coding gene	gene with protein product		612123			NA	10744668, 10833412, 16799181, 19029121	Standard	NM_015723	NM_015723	NA	Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000453144.1:c.80C>T	7.37:g.108155556G>A	ENSP00000387789:p.Ala27Val	NA	A4D0S1|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	37	CCDS59075.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.450732	0.26074	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085;ENST00000427008	D;D;D;D;D;D;D	0.98120	-3.51;-4.73;-3.51;-4.73;-4.71;-4.73;-4.7	5.78	3.05	0.35203	.	0.352176	0.32190	N	0.006453	D	0.93602	0.7957	N	0.25890	0.77	0.25824	N	0.984256	B	0.12013	0.005	B	0.11329	0.006	D	0.85914	0.1442	10	0.36615	T	0.2	.	9.7728	0.40601	0.2568:0.0:0.7432:0.0	.	127	Q9NP80	PLPL8_HUMAN	V	127;127;127;127;27;127;27;127	ENSP00000394988:A127V;ENSP00000257694:A127V;ENSP00000373380:A127V;ENSP00000410804:A127V;ENSP00000387789:A27V;ENSP00000406779:A127V;ENSP00000402274:A27V	ENSP00000257694:A127V	A	-	2	0	PNPLA8	107942792	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.621000	0.46418	0.386000	0.24997	-1.019000	0.02448	GCT	PNPLA8-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337477.2		-	ENST00000453144.1	Missense_Mutation	SNP	7 : 108155556 - 108155556 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	319	22
PPP1R15A	23645	broad.mit.edu	37	19	49378030	49378030	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49378030C>T	ENST00000200453.5	+	2	1809	c.1540C>T	c.(1540-1542)Cct>Tct	p.P514S		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	514	Interaction with MLL.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	p.P514S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CATCTATGTACCTGGAGAGAA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	skin(1)											51	49	50			NA	NA	19		NA											NA				49378030		2203	4300	6503	SO:0001583	missense			U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074	23645	23645		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	14375	protein-coding gene	gene with protein product	growth arrest and DNA-damage-inducible 34	611048	protein phosphatase 1, regulatory (inhibitor) subunit 15A		NA	9153226, 9413226	Standard	NM_014330	NM_014330	NA	Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.1540C>T	19.37:g.49378030C>T	ENSP00000200453:p.Pro514Ser	NA	Q6IA96|Q9NVU6	37	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321945	0.81580	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.15256	2.44	4.43	4.43	0.53597	.	0.092903	0.35349	N	0.003273	T	0.33381	0.0861	L	0.54323	1.7	0.39850	D	0.973228	D	0.89917	1.0	D	0.85130	0.997	T	0.03403	-1.1040	10	0.20519	T	0.43	-15.4289	13.3017	0.60328	0.0:1.0:0.0:0.0	.	514	O75807	PR15A_HUMAN	S	514;354;472	ENSP00000200453:P514S	ENSP00000200453:P514S	P	+	1	0	PPP1R15A	54069842	0.978000	0.34361	0.957000	0.39632	0.936000	0.57629	2.332000	0.43903	2.414000	0.81942	0.650000	0.86243	CCT	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466226.1		+	ENST00000200453.5	Missense_Mutation	SNP	19 : 49378030 - 49378030 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	416	82
ZNF615	284370	broad.mit.edu	37	19	52497300	52497300	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52497300A>C	ENST00000602063.1	-	6	1378	c.1029T>G	c.(1027-1029)ccT>ccG	p.P343P	ZNF615_ENST00000376716.5_Silent_p.P343P|ZNF615_ENST00000598071.1_Silent_p.P354P|ZNF615_ENST00000391795.3_Silent_p.P348P|ZNF615_ENST00000594083.1_Silent_p.P354P			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TACATATATAAGGTTTTTCTC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	88	86			NA	NA	19		NA											NA				52497300		2203	4299	6502	SO:0001819	synonymous_variant			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08					284370	284370		Zinc fingers, C2H2-type, -	24740	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_198480	NM_001199324	NA	Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1029T>G	19.37:g.52497300A>C		NA	B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	37	CCDS12846.1																																																																																			ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462391.1		-	ENST00000602063.1	Silent	SNP	19 : 52497300 - 52497300 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	603	116
LAMA1	284217	broad.mit.edu	37	18	7015724	7015724	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7015724G>A	ENST00000389658.3	-	22	3216	c.3123C>T	c.(3121-3123)tgC>tgT	p.C1041C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1041	Laminin EGF-like 11.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCTCACCTGGCACCCCACCT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	115	123			NA	NA	18		NA											NA				7015724		2203	4300	6503	SO:0001819	synonymous_variant			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680	284217	284217		Laminins	6481	protein-coding gene	gene with protein product		150320		LAMA	NA	2591971	Standard	NM_005559	NM_005559	NA	Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3123C>T	18.37:g.7015724G>A		NA		37	CCDS32787.1																																																																																			LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257369.1		-	ENST00000389658.3	Silent	SNP	18 : 7015724 - 7015724 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	532	21
HGD	3081	broad.mit.edu	37	3	120360511	120360511	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120360511C>T	ENST00000283871.5	-	11	1263	c.804G>A	c.(802-804)tgG>tgA	p.W268*		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	268					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		AATTCCCGTGCCAGGCCACAA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	133	139			NA	NA	3		NA											NA				120360511		2203	4300	6503	SO:0001587	stop_gained				CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	3081	3081	1.13.11.5		4892	protein-coding gene	gene with protein product	homogentisate oxidase	607474	homogentisate 1,2-dioxygenase (homogentisate oxidase)	AKU	NA	8188241	Standard		NM_000187	NA	Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.804G>A	3.37:g.120360511C>T	ENSP00000283871:p.Trp268*	NA	B2R8Z0	37	CCDS3000.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	37|37|37	5.999160|5.999160|5.999160	0.97189|0.97189|0.97189	.|.|.	.|.|.	ENSG00000113924|ENSG00000113924|ENSG00000113924	ENST00000475447|ENST00000494453|ENST00000283871	.|.|.	.|.|.	.|.|.	5.25|5.25|5.25	5.25|5.25|5.25	0.73442|0.73442|0.73442	.|.|.	.|.|0.254500	.|.|0.42964	.|.|D	.|.|0.000639	T|T|.	0.46288|0.46288|.	0.1385|0.1385|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|.	0.34129|0.34129|.	-0.9841|-0.9841|.	3|3|.	.|.|0.02654	.|.|T	.|.|1	-16.2027|-16.2027|-16.2027	18.3691|18.3691|18.3691	0.90401|0.90401|0.90401	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	T|D|X	78|75|268	.|.|.	.|.|ENSP00000283871:W268X	A|G|W	-|-|-	1|2|3	0|0|0	HGD|HGD|HGD	121843201|121843201|121843201	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.979000|0.979000|0.979000	0.70002|0.70002|0.70002	7.278000|7.278000|7.278000	0.78587|0.78587|0.78587	2.885000|2.885000|2.885000	0.99019|0.99019|0.99019	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCA|GGC|TGG	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355410.1		-	ENST00000283871.5	Nonsense_Mutation	SNP	3 : 120360511 - 120360511 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	469	73
MAP3K2	10746	broad.mit.edu	37	2	128088062	128088062	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128088062G>A	ENST00000409947.1	-	6	566	c.284C>T	c.(283-285)aCt>aTt	p.T95I	MAP3K2_ENST00000344908.5_Missense_Mutation_p.T95I			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	95	OPR.				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		GTCATCTTGAGTAGTTAATGG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	62	65			NA	NA	2		NA											NA				128088062		1882	4122	6004	SO:0001583	missense			AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967	10746	10746		Mitogen-activated protein kinase cascade / Kinase kinase kinases	6854	protein-coding gene	gene with protein product	MAP/ERK kinase kinase 2	609487		MEKK2	NA	8621389, 10085062	Standard	NM_006609	NM_006609	NA	Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.284C>T	2.37:g.128088062G>A	ENSP00000387246:p.Thr95Ile	NA	B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	37	CCDS46404.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813786	0.90790	.	.	ENSG00000169967	ENST00000409947;ENST00000344908	T;T	0.23552	1.9;1.9	6.07	6.07	0.98685	Phox/Bem1p (2);	0.000000	0.85682	D	0.000000	T	0.37785	0.1016	L	0.47716	1.5	0.80722	D	1	P	0.37276	0.589	P	0.45610	0.487	T	0.03630	-1.1018	10	0.66056	D	0.02	.	20.6525	0.99598	0.0:0.0:1.0:0.0	.	95	Q9Y2U5	M3K2_HUMAN	I	95	ENSP00000387246:T95I;ENSP00000343463:T95I	ENSP00000343463:T95I	T	-	2	0	MAP3K2	127804532	1.000000	0.71417	0.984000	0.44739	0.968000	0.65278	7.177000	0.77650	2.890000	0.99128	0.585000	0.79938	ACT	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331014.1		-	ENST00000409947.1	Missense_Mutation	SNP	2 : 128088062 - 128088062 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	120	28
PARP16	54956	broad.mit.edu	37	15	65578689	65578689	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65578689G>A	ENST00000444347.2	-	1	492	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	PARP16_ENST00000261888.6_Missense_Mutation_p.L26F|PARP16_ENST00000558873.1_Intron			Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	26						integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GAGGCGAAGAGGCTGCACCGG	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(50;885 1163 13509 21242 41978)							NA				0													8	10	9			NA	NA	15		NA											NA				65578689		2173	4272	6445	SO:0001583	missense			AK000516	CCDS10204.1	15q22.2	2010-02-16	2004-08-25	2004-08-25	ENSG00000138617	ENSG00000138617	54956	54956		Poly (ADP-ribose) polymerases	26040	protein-coding gene	gene with protein product			chromosome 15 open reading frame 30	C15orf30	NA	15273990	Standard	NM_017851	NM_017851	NA	Approved	FLJ20509, FLJ25281, pART15	uc002aoq.3	Q8N5Y8	OTTHUMG00000133138	ENST00000444347.2:c.76C>T	15.37:g.65578689G>A	ENSP00000396118:p.Leu26Phe	NA	Q6PK64|Q9NX03	37		.	.	.	.	.	.	.	.	.	.	G	10.84	1.462976	0.26248	.	.	ENSG00000138617	ENST00000261888;ENST00000444347	T;T	0.60171	0.43;0.21	3.29	-0.0327	0.13904	.	0.234953	0.36482	N	0.002573	T	0.47322	0.1439	L	0.59436	1.845	0.28420	N	0.917767	B;B;B	0.28178	0.202;0.0;0.039	B;B;B	0.29663	0.105;0.003;0.049	T	0.41787	-0.9489	10	0.45353	T	0.12	-10.0549	6.6763	0.23095	0.4103:0.0:0.5897:0.0	.	26;26;26	Q8N5Y8-3;Q8N5Y8-2;Q8N5Y8	.;.;PAR16_HUMAN	F	26	ENSP00000261888:L26F;ENSP00000396118:L26F	ENSP00000261888:L26F	L	-	1	0	PARP16	63365742	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	2.199000	0.42715	0.131000	0.18576	-0.481000	0.04817	CTC	PARP16-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000418174.1		-	ENST00000444347.2	Missense_Mutation	SNP	15 : 65578689 - 65578689 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	105	17
SPECC1	92521	broad.mit.edu	37	17	20156861	20156861	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:20156861T>C	ENST00000395530.2	+	8	2607	c.2399T>C	c.(2398-2400)gTg>gCg	p.V800A	SPECC1_ENST00000261503.5_Missense_Mutation_p.V881A|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000536879.1_Missense_Mutation_p.V221A|SPECC1_ENST00000395527.4_Missense_Mutation_p.V881A	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	881						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		AGCAGAGGGGTGACTCAACGC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	81	88			NA	NA	17		NA											NA				20156861		2203	4300	6503	SO:0001583	missense			AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487	92521	92521			30615	protein-coding gene	gene with protein product	sperm antigen HCMOGT 1, cytokinesis and spindle organization B, cytospin B	608793			NA	15602574, 18763323, 15087372	Standard	NM_152904	NM_001033553	NA	Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000395530.2:c.2399T>C	17.37:g.20156861T>C	ENSP00000378901:p.Val800Ala	NA	B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	37	CCDS42281.1	.	.	.	.	.	.	.	.	.	.	T	0.142	-1.101448	0.01828	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000536879;ENST00000395527	T;T	0.44482	0.92;0.92	4.68	-3.92	0.04155	.	0.799614	0.11692	N	0.538767	T	0.17577	0.0422	N	0.22421	0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.31420	-0.9944	10	0.07813	T	0.8	-0.8192	1.832	0.03132	0.1337:0.3288:0.1377:0.3998	.	881;800;881	A8MV89;Q5M775-4;Q5M775	.;.;CYTSB_HUMAN	A	881;881;221;800	ENSP00000261503:V881A;ENSP00000438294:V221A	ENSP00000261503:V881A	V	+	2	0	SPECC1	20097453	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.438000	0.06905	-0.947000	0.03673	-0.263000	0.10527	GTG	SPECC1-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132368.3		+	ENST00000395530.2	Missense_Mutation	SNP	17 : 20156861 - 20156861 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	274	45
MRPL47	57129	broad.mit.edu	37	3	179316509	179316509	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179316509G>A	ENST00000476781.1	-	4	385	c.356C>T	c.(355-357)gCc>gTc	p.A119V	MRPL47_ENST00000392659.2_Missense_Mutation_p.A9V|MRPL47_ENST00000259038.2_Missense_Mutation_p.A99V	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	119					translation	mitochondrial ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			CTGCCGCTTGGCCTCCTGCTC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	134	138			NA	NA	3		NA											NA				179316509		2203	4300	6503	SO:0001583	missense			AF285120	CCDS3232.1, CCDS3233.1	3q26.33	2012-11-14			ENSG00000136522	ENSG00000136522	57129	57129		Mitochondrial ribosomal proteins / large subunits	16652	protein-coding gene	gene with protein product	nasopharyngeal carcinoma metastasis-related 1	611852			NA	11551941	Standard	NM_020409	NM_177988	NA	Approved	CGI-204, NCM1	uc003fjz.3	Q9HD33	OTTHUMG00000157784	ENST00000476781.1:c.356C>T	3.37:g.179316509G>A	ENSP00000417602:p.Ala119Val	NA	Q6XRG1|Q8N5D1	37	CCDS3232.1	.	.	.	.	.	.	.	.	.	.	G	33	5.257331	0.95368	.	.	ENSG00000136522	ENST00000476781;ENST00000259038;ENST00000392659	T;T;T	0.46451	1.39;1.41;0.87	6.17	6.17	0.99709	.	0.178216	0.48286	D	0.000191	T	0.63873	0.2548	M	0.66439	2.03	0.44562	D	0.997529	D;D	0.89917	1.0;1.0	D;D	0.77557	0.988;0.99	T	0.52185	-0.8609	10	0.20046	T	0.44	-12.1073	20.4745	0.99168	0.0:0.0:1.0:0.0	.	99;119	Q9HD33-2;Q9HD33	.;RM47_HUMAN	V	119;99;9	ENSP00000417602:A119V;ENSP00000259038:A99V;ENSP00000376427:A9V	ENSP00000259038:A99V	A	-	2	0	MRPL47	180799203	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.610000	0.82949	2.941000	0.99782	0.655000	0.94253	GCC	MRPL47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349623.1		-	ENST00000476781.1	Missense_Mutation	SNP	3 : 179316509 - 179316509 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	515	99
KCNH6	81033	broad.mit.edu	37	17	61611263	61611263	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61611263C>T	ENST00000583023.1	+	5	703	c.692C>T	c.(691-693)gCg>gTg	p.A231V	KCNH6_ENST00000581784.1_Missense_Mutation_p.A231V|KCNH6_ENST00000314672.5_Missense_Mutation_p.A231V|KCNH6_ENST00000580652.1_Missense_Mutation_p.A231V|KCNH6_ENST00000456941.2_Missense_Mutation_p.A231V	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	231					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TCCCTGGGCGCGGATGTGCTG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	53	53			NA	NA	17		NA											NA				61611263		2203	4300	6503	SO:0001583	missense			AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826	81033	81033		Potassium channels, Voltage-gated ion channels / Potassium channels	18862	protein-coding gene	gene with protein product		608168			NA	16382104	Standard	NM_030779	NM_030779	NA	Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.692C>T	17.37:g.61611263C>T	ENSP00000463533:p.Ala231Val	NA	Q9BRD7	37	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.267669	0.23136	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.99060	-5.38;-5.38	3.9	3.9	0.45041	.	0.062977	0.64402	D	0.000007	D	0.99089	0.9687	M	0.76727	2.345	0.80722	D	1	D;D;P;D;D	0.89917	0.999;1.0;0.868;0.997;0.967	D;D;B;P;P	0.68765	0.96;0.946;0.355;0.886;0.783	D	0.99305	1.0902	10	0.87932	D	0	.	16.4191	0.83752	0.0:1.0:0.0:0.0	.	108;231;231;231;231	B4DPJ3;B4DKC0;Q9H252-2;Q9H252;Q9H252-3	.;.;.;KCNH6_HUMAN;.	V	231	ENSP00000318212:A231V;ENSP00000396900:A231V	ENSP00000318212:A231V	A	+	2	0	KCNH6	58964995	1.000000	0.71417	0.442000	0.26870	0.033000	0.12548	7.601000	0.82783	2.158000	0.67659	0.313000	0.20887	GCG	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443853.1		+	ENST00000583023.1	Missense_Mutation	SNP	17 : 61611263 - 61611263 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	471	86
KLHL30	377007	broad.mit.edu	37	2	239049856	239049856	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239049856C>A	ENST00000409223.1	+	2	568	c.461C>A	c.(460-462)gCc>gAc	p.A154D	KLHL30_ENST00000305959.4_Missense_Mutation_p.A136D			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	154	BACK.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GCTGCCAAGGCCTGGGCCTTC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	25	23			NA	NA	2		NA											NA				239049856		2140	4245	6385	SO:0001583	missense				CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427	377007	377007		Kelch-like, BTB/POZ domain containing	24770	protein-coding gene	gene with protein product			kelch-like 30 (Drosophila)		NA		Standard	NM_198582	NM_198582	NA	Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.461C>A	2.37:g.239049856C>A	ENSP00000386389:p.Ala154Asp	NA	Q6ZUS1	37	CCDS46555.2	.	.	.	.	.	.	.	.	.	.	c	29.7	5.027365	0.93518	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.73469	-0.75;-0.75	5.65	5.65	0.86999	BTB/Kelch-associated (2);	0.056170	0.64402	D	0.000001	D	0.90147	0.6921	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92233	0.5794	10	0.87932	D	0	.	18.4949	0.90861	0.0:1.0:0.0:0.0	.	154	Q0D2K2	KLH30_HUMAN	D	154;136	ENSP00000386389:A154D;ENSP00000302386:A136D	ENSP00000302386:A136D	A	+	2	0	KLHL30	238714595	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.647000	0.83462	2.671000	0.90904	0.651000	0.88453	GCC	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328518.1		+	ENST00000409223.1	Missense_Mutation	SNP	2 : 239049856 - 239049856 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	219	38
CAND2	23066	broad.mit.edu	37	3	12854865	12854865	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12854865G>T	ENST00000456430.2	+	7	1025	c.984G>T	c.(982-984)gaG>gaT	p.E328D	CAND2_ENST00000295989.5_Missense_Mutation_p.E235D	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	328					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGGAGACAGAGGATAGTGAAT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(43;676 868 1633 6395 37496)							NA				0													139	145	143			NA	NA	3		NA											NA				12854865		2109	4225	6334	SO:0001583	missense				CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712	23066	23066			30689	protein-coding gene	gene with protein product	TBP interacting protein	610403			NA	9734811, 10441524	Standard	XM_371617	NM_012298	NA	Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.984G>T	3.37:g.12854865G>T	ENSP00000387641:p.Glu328Asp	NA	B9EGM9	37	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	G	8.758	0.922797	0.18056	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.07021	3.23;3.23	4.67	-0.724	0.11177	Armadillo-type fold (1);	0.190310	0.35970	N	0.002877	T	0.05640	0.0148	N	0.02420	-0.555	0.80722	D	1	B;D	0.56035	0.002;0.974	B;D	0.70487	0.006;0.969	T	0.49062	-0.8978	10	0.10111	T	0.7	-10.9144	5.4665	0.16646	0.3542:0.1424:0.5033:0.0	.	328;235	O75155;O75155-2	CAND2_HUMAN;.	D	235;328	ENSP00000295989:E235D;ENSP00000387641:E328D	ENSP00000295989:E235D	E	+	3	2	CAND2	12829865	1.000000	0.71417	0.987000	0.45799	0.990000	0.78478	0.983000	0.29552	0.023000	0.15187	0.462000	0.41574	GAG	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339856.4		+	ENST00000456430.2	Missense_Mutation	SNP	3 : 12854865 - 12854865 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	194	41
ZC3H14	79882	broad.mit.edu	37	14	89044479	89044479	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89044479A>G	ENST00000555755.1	+	9	1370	c.1274A>G	c.(1273-1275)aAt>aGt	p.N425S	ZC3H14_ENST00000556945.1_Missense_Mutation_p.N425S|ZC3H14_ENST00000557607.1_Missense_Mutation_p.N270S|ZC3H14_ENST00000251038.5_Missense_Mutation_p.N425S|ZC3H14_ENST00000336693.4_Missense_Mutation_p.N391S|ZC3H14_ENST00000393514.5_Missense_Mutation_p.N425S|ZC3H14_ENST00000359301.3_Missense_Mutation_p.N391S|ZC3H14_ENST00000557605.1_3'UTR|ZC3H14_ENST00000302216.8_Missense_Mutation_p.N425S			Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	425						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						GTAGAAAAAAATCAAGGTAAT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	51	49			NA	NA	14		NA											NA				89044479		2201	4299	6500	SO:0001583	missense			AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722	79882	79882		Zinc fingers, CCCH-type domain containing	20509	protein-coding gene	gene with protein product		613279			NA	10508479	Standard	NM_024824	NM_024824	NA	Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000555755.1:c.1274A>G	14.37:g.89044479A>G	ENSP00000452475:p.Asn425Ser	NA	A8MY46|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	37	CCDS55938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.653|0.653	-0.808587|-0.808587	0.02819|0.02819	.|.	.|.	ENSG00000100722|ENSG00000100722	ENST00000556000|ENST00000251038;ENST00000393530;ENST00000353091;ENST00000359301;ENST00000302216;ENST00000380684;ENST00000556945;ENST00000557607;ENST00000555755;ENST00000393514;ENST00000336693	.|.	.|.	.|.	5.29|5.29	-4.51|-4.51	0.03483|0.03483	.|.	.|1.111380	.|0.06441	.|N	.|0.725924	T|T	0.14227|0.14227	0.0344|0.0344	N|N	0.08118|0.08118	0|0	0.24646|0.24646	N|N	0.993545|0.993545	.|B;B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B;B	.|0.04013	.|0.0;0.0;0.001;0.001;0.0;0.001	T|T	0.30880|0.30880	-0.9963|-0.9963	5|9	.|0.09590	.|T	.|0.72	0.7538|0.7538	6.1357|6.1357	0.20230|0.20230	0.1368:0.0:0.4318:0.4314|0.1368:0.0:0.4318:0.4314	.|.	.|425;406;425;425;425;425	.|G3V256;F8W848;G3V5R4;Q6PJT7-2;Q6PJT7-3;Q6PJT7	.|.;.;.;.;.;ZC3HE_HUMAN	V|S	341|425;425;425;391;425;406;425;270;425;425;391	.|.	.|ENSP00000251038:N425S	I|N	+|+	1|2	0|0	ZC3H14|ZC3H14	88114232|88114232	0.994000|0.994000	0.37717|0.37717	0.570000|0.570000	0.28473|0.28473	0.343000|0.343000	0.28985|0.28985	0.149000|0.149000	0.16243|0.16243	-0.454000|-0.454000	0.07066|0.07066	-0.297000|-0.297000	0.09499|0.09499	ATC|AAT	ZC3H14-007	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410397.1		+	ENST00000555755.1	Missense_Mutation	SNP	14 : 89044479 - 89044479 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	343	61
ACOT8	10005	broad.mit.edu	37	20	44472353	44472353	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44472353G>A	ENST00000217455.4	-	5	744	c.654C>T	c.(652-654)ggC>ggT	p.G218G		NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	218					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				TCTTCATGTCGCCCTCGCCTG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	43	45			NA	NA	20		NA											NA				44472353		2203	4300	6503	SO:0001819	synonymous_variant			AF014404	CCDS13378.1	20q13.12	2012-05-16	2005-09-19	2005-09-19	ENSG00000101473	ENSG00000101473	10005	10005	3.1.2.27	Acyl CoA thioesterases	15919	protein-coding gene	gene with protein product	choloyl-CoA hydrolase	608123	peroxisomal acyl-CoA thioesterase, peroxisomal acyl-CoA thioesterase 1	PTE1	NA	10092594, 9153233, 16103133, 16940157	Standard	NM_183386	NM_005469	NA	Approved	hACTE-III, hTE, PTE-2	uc002xqa.2	O14734	OTTHUMG00000033045	ENST00000217455.4:c.654C>T	20.37:g.44472353G>A		NA	O15261|Q17RX4	37	CCDS13378.1																																																																																			ACOT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080338.2		-	ENST00000217455.4	Silent	SNP	20 : 44472353 - 44472353 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	58
CNOT3	4849	broad.mit.edu	37	19	54649380	54649380	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54649380G>A	ENST00000406403.1	+	7	2133	c.530G>A	c.(529-531)cGc>cAc	p.R177H	CNOT3_ENST00000221232.5_Missense_Mutation_p.R177H|CNOT3_ENST00000358389.3_5'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	177					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GAGAAGCACCGCTACCACGTG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	94	111			NA	NA	19		NA											NA				54649380		2203	4300	6503	SO:0001583	missense			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038	4849	4849			7879	protein-coding gene	gene with protein product	NOT3 (negative regulator of transcription 3, yeast) homolog	604910		NOT3	NA	10637334, 9734811	Standard	NM_014516	NM_014516	NA	Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.530G>A	19.37:g.54649380G>A	ENSP00000383954:p.Arg177His	NA	Q9NZN7|Q9UF76	37	CCDS12880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.5|29.5	5.011912|5.011912	0.93346|0.93346	.|.	.|.	ENSG00000088038|ENSG00000088038	ENST00000440571|ENST00000221232;ENST00000406403	.|T;T	.|0.48201	.|0.82;0.82	4.73|4.73	4.73|4.73	0.59995|0.59995	.|Not CCR4-Not complex component, N-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65196|0.65196	0.2668|0.2668	L|L	0.52905|0.52905	1.665|1.665	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.997;0.997;0.999	T|T	0.68224|0.68224	-0.5465|-0.5465	5|10	.|0.87932	.|D	.|0	-25.8557|-25.8557	17.3261|17.3261	0.87248|0.87248	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|177;177;101	.|B7Z6J7;O75175;Q6ZMJ6	.|.;CNOT3_HUMAN;.	T|H	99|177	.|ENSP00000221232:R177H;ENSP00000383954:R177H	.|ENSP00000221232:R177H	A|R	+|+	1|2	0|0	CNOT3|CNOT3	59341192|59341192	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.911000|0.911000	0.54048|0.54048	9.430000|9.430000	0.97488|0.97488	2.567000|2.567000	0.86603|0.86603	0.609000|0.609000	0.83330|0.83330	GCT|CGC	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000142130.3		+	ENST00000406403.1	Missense_Mutation	SNP	19 : 54649380 - 54649380 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	222	49
RNASE11	122651	broad.mit.edu	37	14	21052116	21052116	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21052116C>A	ENST00000610205.1	-	3	701	c.518G>T	c.(517-519)aGt>aTt	p.S173I	RNASE11_ENST00000553849.1_Missense_Mutation_p.S173I|RNASE11_ENST00000398009.2_Missense_Mutation_p.S173I|RNASE11_ENST00000555841.1_Missense_Mutation_p.S173I|RNASE11_ENST00000398008.2_Missense_Mutation_p.S173I|RNASE11_ENST00000432835.2_Missense_Mutation_p.S173I	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	NA						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		TGAGGTAACACTATGGTATTG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	88	94			NA	NA	14		NA											NA				21052116		2203	4300	6503	SO:0001583	missense			BC025410	CCDS9553.1	14q11.1	2013-08-05	2004-11-18	2004-11-18	ENSG00000173464	ENSG00000173464	122651	122651		Ribonucleases, RNase A	19269	protein-coding gene	gene with protein product			chromosome 14 open reading frame 6	C14orf6	NA		Standard	NM_145250	NM_145250	NA	Approved		uc001vxs.3	Q8TAA1	OTTHUMG00000170990	ENST00000610205.1:c.518G>T	14.37:g.21052116C>A	ENSP00000476537:p.Ser173Ile	NA		37	CCDS9553.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103399	0.56291	.	.	ENSG00000173464	ENST00000335950;ENST00000553849;ENST00000555841;ENST00000398009;ENST00000398008;ENST00000432835;ENST00000443456;ENST00000557503	T;T;T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	4.06	3.17	0.36434	Ribonuclease A, domain (3);	0.766368	0.12270	N	0.483906	T	0.72606	0.3481	N	0.24115	0.695	0.09310	N	1	D	0.59767	0.986	P	0.60541	0.876	T	0.60209	-0.7308	10	0.56958	D	0.05	-12.3081	7.8189	0.29276	0.0:0.8873:0.0:0.1127	.	173	Q8TAA1	RNS11_HUMAN	I	173	ENSP00000338288:S173I;ENSP00000451318:S173I;ENSP00000451563:S173I;ENSP00000381093:S173I;ENSP00000381092:S173I;ENSP00000395210:S173I;ENSP00000401398:S173I;ENSP00000451839:S173I	ENSP00000338288:S173I	S	-	2	0	RNASE11	20121956	0.041000	0.20044	0.005000	0.12908	0.226000	0.24999	1.381000	0.34362	1.297000	0.44761	0.511000	0.50034	AGT	RNASE11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000073662.3		-	ENST00000610205.1	Missense_Mutation	SNP	14 : 21052116 - 21052116 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	311	24
CNNM2	54805	broad.mit.edu	37	10	104679834	104679834	+	Missense_Mutation	SNP	G	G	A	rs146507239		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104679834G>A	ENST00000369878.4	+	1	1785	c.1597G>A	c.(1597-1599)Gct>Act	p.A533T	CNNM2_ENST00000433628.2_Missense_Mutation_p.A533T|CNNM2_ENST00000369875.3_Missense_Mutation_p.A533T	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	NA	CBS 2.				ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CAAGTTGGACGCTATGCTGGA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	115	121	119		1597,1597,1597	5.6	1	10	dbSNP_134	119	0,8600		0,0,4300	no	missense,missense,missense	CNNM2	NM_017649.3,NM_199076.1,NM_199077.1	58,58,58	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	benign,benign,benign	533/876,533/854,533/553	104679834	1,13005	2203	4300	6503	SO:0001583	missense			AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842	54805	54805			103	protein-coding gene	gene with protein product		607803	cyclin M2	ACDP2	NA	21393841, 24699222	Standard	NM_017649	NM_017649	NA	Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.1597G>A	10.37:g.104679834G>A	ENSP00000358894:p.Ala533Thr	NA	Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	37	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599526	0.46318	2.27E-4	0.0	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369875;ENST00000369878;ENST00000345419;ENST00000541201	D;T;D	0.93426	-3.22;-0.99;-3.22	5.55	5.55	0.83447	Cystathionine beta-synthase, core (1);	0.103082	0.64402	D	0.000004	D	0.89420	0.6710	N	0.10916	0.065	0.58432	D	0.999999	B;B;D	0.56968	0.027;0.075;0.978	B;B;P	0.50049	0.024;0.011;0.629	D	0.87620	0.2509	10	0.16896	T	0.51	.	19.4871	0.95033	0.0:0.0:1.0:0.0	.	533;533;533	Q9H8M5-2;Q9H8M5;F5H1I3	.;CNNM2_HUMAN;.	T	533	ENSP00000392875:A533T;ENSP00000358891:A533T;ENSP00000358894:A533T	ENSP00000286899:A533T	A	+	1	0	CNNM2	104669824	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.750000	0.74888	2.604000	0.88044	0.561000	0.74099	GCT	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050113.3		+	ENST00000369878.4	Missense_Mutation	SNP	10 : 104679834 - 104679834 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	914	91
MYO1B	4430	broad.mit.edu	37	2	192225372	192225372	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:192225372C>A	ENST00000392318.3	+	8	825	c.578C>A	c.(577-579)tCt>tAt	p.S193Y	MYO1B_ENST00000392316.1_Missense_Mutation_p.S193Y|MYO1B_ENST00000339514.4_Missense_Mutation_p.S193Y|MYO1B_ENST00000304164.4_Missense_Mutation_p.S193Y	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	193	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TTAGAGAAATCTCGGGTTGTT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	188	186			NA	NA	2		NA											NA				192225372		2203	4300	6503	SO:0001583	missense			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641	4430	4430		Myosins / Myosin superfamily : Class I	7596	protein-coding gene	gene with protein product		606537			NA	8022818, 8449985	Standard	NM_012223	NM_012223	NA	Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.578C>A	2.37:g.192225372C>A	ENSP00000376132:p.Ser193Tyr	NA	O43794|Q7Z6L5	37	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712950	0.89112	.	.	ENSG00000128641	ENST00000339514;ENST00000439452;ENST00000392318;ENST00000304164;ENST00000451437;ENST00000392316	D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98	5.71	5.71	0.89125	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.97723	0.9253	H	0.97540	4.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98855	1.0760	10	0.87932	D	0	.	18.0408	0.89318	0.0:1.0:0.0:0.0	.	193;193	O43795;O43795-2	MYO1B_HUMAN;.	Y	193	ENSP00000341903:S193Y;ENSP00000376132:S193Y;ENSP00000306382:S193Y;ENSP00000388140:S193Y;ENSP00000376130:S193Y	ENSP00000306382:S193Y	S	+	2	0	MYO1B	191933617	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.073000	0.76784	2.681000	0.91329	0.655000	0.94253	TCT	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334774.1		+	ENST00000392318.3	Missense_Mutation	SNP	2 : 192225372 - 192225372 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1125	59
CNTN3	5067	broad.mit.edu	37	3	74420531	74420531	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:74420531G>A	ENST00000263665.6	-	5	501	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	158	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ATTCATTGAAGATCCAAGCAT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	67	68			NA	NA	3		NA											NA				74420531		2203	4300	6503	SO:0001819	synonymous_variant			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805	5067	5067		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	2173	protein-coding gene	gene with protein product		601325		PANG	NA	8661054, 8586965	Standard	NM_020872	XM_005264757	NA	Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.474C>T	3.37:g.74420531G>A		NA	B9EK50|Q9H039	37	CCDS33790.1																																																																																			CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352306.1		-	ENST00000263665.6	Silent	SNP	3 : 74420531 - 74420531 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	235	34
SPACA1	81833	broad.mit.edu	37	6	88768475	88768475	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88768475G>A	ENST00000237201.1	+	4	526	c.409G>A	c.(409-411)Gca>Aca	p.A137T		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	137						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		TGTTAGATTGGCATGTATTCA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	101	100			NA	NA	6		NA											NA				88768475		2203	4300	6503	SO:0001583	missense			AF203447	CCDS5014.1	6q15	2012-09-20			ENSG00000118434	ENSG00000118434	81833	81833			14967	protein-coding gene	gene with protein product		612739			NA		Standard		NM_030960	NA	Approved	SAMP32	uc003pmn.3	Q9HBV2	OTTHUMG00000015183	ENST00000237201.1:c.409G>A	6.37:g.88768475G>A	ENSP00000237201:p.Ala137Thr	NA		37	CCDS5014.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.793520	0.31685	.	.	ENSG00000118434	ENST00000237201	T	0.23950	1.88	5.86	1.49	0.22878	.	0.672852	0.14875	N	0.293339	T	0.05227	0.0139	N	0.25647	0.755	0.09310	N	1	B	0.24823	0.112	B	0.27380	0.079	T	0.36065	-0.9763	10	0.28530	T	0.3	-3.0372	4.0794	0.09919	0.0749:0.342:0.3269:0.2563	.	137	Q9HBV2	SACA1_HUMAN	T	137	ENSP00000237201:A137T	ENSP00000237201:A137T	A	+	1	0	SPACA1	88825194	0.001000	0.12720	0.040000	0.18447	0.769000	0.43574	0.001000	0.13038	0.760000	0.33108	0.650000	0.86243	GCA	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041459.1		+	ENST00000237201.1	Missense_Mutation	SNP	6 : 88768475 - 88768475 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	311	54
TMEM54	113452	broad.mit.edu	37	1	33360427	33360427	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33360427G>T	ENST00000373463.3	-	6	767	c.648C>A	c.(646-648)agC>agA	p.S216R	TMEM54_ENST00000329151.5_Missense_Mutation_p.S163R	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54	216						integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GAGGCTCAGAGCTGGTGCAGC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	67	68			NA	NA	1		NA											NA				33360427		2203	4300	6503	SO:0001583	missense				CCDS371.1	1p35-p34	2008-02-05			ENSG00000121900	ENSG00000121900	113452	113452			24143	protein-coding gene	gene with protein product					NA	9500206	Standard	NM_033504	NM_033504	NA	Approved	CAC-1	uc001bwi.1	Q969K7	OTTHUMG00000004016	ENST00000373463.3:c.648C>A	1.37:g.33360427G>T	ENSP00000362562:p.Ser216Arg	NA	Q6UV18|Q8IVD0|Q9UM12	37	CCDS371.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693879	0.30052	.	.	ENSG00000121900	ENST00000373463;ENST00000329151	T	0.49139	0.79	4.83	0.694	0.18062	.	0.992833	0.08193	N	0.983470	T	0.37785	0.1016	N	0.08118	0	0.09310	N	1	D;B;D	0.76494	0.999;0.001;0.998	D;B;D	0.83275	0.996;0.002;0.991	T	0.34054	-0.9844	10	0.02654	T	1	.	4.139	0.10184	0.2911:0.1732:0.5357:0.0	.	196;163;216	Q969K7-2;Q969K7-3;Q969K7	.;.;TMM54_HUMAN	R	216;163	ENSP00000362562:S216R	ENSP00000328630:S163R	S	-	3	2	TMEM54	33133014	0.000000	0.05858	0.010000	0.14722	0.208000	0.24298	0.445000	0.21677	0.188000	0.20168	-0.142000	0.14014	AGC	TMEM54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000011474.1		-	ENST00000373463.3	Missense_Mutation	SNP	1 : 33360427 - 33360427 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	475	96
GPAM	57678	broad.mit.edu	37	10	113937793	113937793	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:113937793A>G	ENST00000348367.4	-	5	445	c.248T>C	c.(247-249)aTc>aCc	p.I83T	GPAM_ENST00000369425.1_Missense_Mutation_p.I83T|GPAM_ENST00000423155.1_Missense_Mutation_p.I83T			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	83					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		CAAAGACGGGATACTGGGGTT	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(161;1017 2606 18293 52943)							NA				0													45	50	48			NA	NA	10		NA											NA				113937793		2203	4297	6500	SO:0001583	missense			AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927	57678	57678			24865	protein-coding gene	gene with protein product	glycerol-3-phosphate acyltransferase 1, mitochondrial	602395			NA	10997877, 8369314	Standard	NM_020918	NM_020918	NA	Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.248T>C	10.37:g.113937793A>G	ENSP00000265276:p.Ile83Thr	NA	Q5VW51|Q86TA3	37	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.010639	0.75046	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	T;T;T	0.40756	1.02;1.02;1.02	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.55609	0.1931	L	0.55213	1.73	0.58432	D	0.999998	D;D	0.71674	0.981;0.998	D;D	0.76071	0.966;0.987	T	0.50659	-0.8802	10	0.09843	T	0.71	-21.1449	15.1293	0.72511	1.0:0.0:0.0:0.0	.	83;83	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	T	83	ENSP00000265276:I83T;ENSP00000409242:I83T;ENSP00000358433:I83T	ENSP00000265276:I83T	I	-	2	0	GPAM	113927783	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.603000	0.90871	2.044000	0.60594	0.528000	0.53228	ATC	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050377.1		-	ENST00000348367.4	Missense_Mutation	SNP	10 : 113937793 - 113937793 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	274	47
GSPT1	2935	broad.mit.edu	37	16	11990584	11990584	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11990584T>G	ENST00000434724.2	-	4	694	c.495A>C	c.(493-495)atA>atC	p.I165I	GSPT1_ENST00000439887.2_Silent_p.I164I|GSPT1_ENST00000563468.1_Silent_p.I27I|GSPT1_ENST00000420576.2_Silent_p.I27I	NM_001130006.1|NM_002094.3	NP_001123478.1|NP_002085	P15170	ERF3A_HUMAN	G1 to S phase transition 1	27					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						CTGCTTCACTTATTTCTTCTT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	58	60			NA	NA	16		NA											NA				11990584		1894	4128	6022	SO:0001819	synonymous_variant			BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01					2935	2935			4621	protein-coding gene	gene with protein product		139259			NA	2511002, 17700517	Standard	NM_002094	NM_002094	NA	Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000434724.2:c.495A>C	16.37:g.11990584T>G		NA		37	CCDS45412.1																																																																																			GSPT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421510.1		-	ENST00000434724.2	Silent	SNP	16 : 11990584 - 11990584 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	64	16
EPX	8288	broad.mit.edu	37	17	56271324	56271324	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56271324G>A	ENST00000225371.5	+	5	575	c.465G>A	c.(463-465)aaG>aaA	p.K155K		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	155					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						ATGGCTGCAGGAGGAGACCCT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	34	33			NA	NA	17		NA											NA				56271324		2203	4300	6503	SO:0001630	splice_region_variant			M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	8288	8288	1.11.1.7		3423	protein-coding gene	gene with protein product		131399			NA	2550461, 2541222	Standard	NM_000502	NM_000502	NA	Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.465-1G>A	17.37:g.56271324G>A		NA	Q4TVP3	37	CCDS11602.1																																																																																			EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443367.1	Silent	+	ENST00000225371.5	Splice_Site	SNP	17 : 56271324 - 56271324 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	321	58
MUC16	94025	broad.mit.edu	37	19	9089904	9089904	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9089904G>A	ENST00000397910.4	-	1	2114	c.1911C>T	c.(1909-1911)tcC>tcT	p.S637S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	637	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S637S(2)		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						TCAAATCTGCGGATGTCTCAG	0.582		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)						G		1,4373		0,1,2186	113	117	115		1911	-3.1	0	19		115	0,8566		0,0,4283	no	coding-synonymous	MUC16	NM_024690.2		0,1,6469	AA,AG,GG	NA	0.0,0.0229,0.0077		637/14508	9089904	1,12939	2187	4283	6470	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.1911C>T	19.37:g.9089904G>A		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 : 9089904 - 9089904 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	519	18
PCDHGA2	56113	broad.mit.edu	37	5	140719530	140719530	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140719530C>T	ENST00000394576.2	+	1	992	c.992C>T	c.(991-993)gCg>gTg	p.A331V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1			protocadherin gamma subfamily A, 2	NA								p.A331V(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTAACCAGAGCGAAGGTTATC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	large_intestine(2)											149	153	152			NA	NA	5		NA											NA				140719530		2203	4300	6503	SO:0001583	missense			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853	56113	56113		Cadherins / Protocadherins : Clustered	8700	other	protocadherin		606289			NA	10380929	Standard	NM_018915	NM_018915	NA	Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.992C>T	5.37:g.140719530C>T	ENSP00000378077:p.Ala331Val	NA		37	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	7.536	0.659606	0.14645	.	.	ENSG00000081853	ENST00000394576	T	0.01474	4.85	5.26	2.52	0.30459	Cadherin (4);Cadherin-like (1);	0.595751	0.13836	U	0.359348	T	0.03220	0.0094	L	0.61218	1.895	0.09310	N	1	B;B	0.30326	0.107;0.276	B;B	0.34931	0.104;0.192	T	0.32587	-0.9901	10	0.62326	D	0.03	.	8.5125	0.33226	0.0:0.7322:0.1269:0.1409	.	331;331	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	V	331	ENSP00000378077:A331V	ENSP00000378077:A331V	A	+	2	0	PCDHGA2	140699714	0.000000	0.05858	0.189000	0.23252	0.058000	0.15608	-0.155000	0.10115	0.319000	0.23209	-0.878000	0.02970	GCG	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374738.1		+	ENST00000394576.2	Missense_Mutation	SNP	5 : 140719530 - 140719530 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1110	46
ZNF217	7764	broad.mit.edu	37	20	52192497	52192497	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:52192497A>G	ENST00000371471.2	-	4	3231	c.2806T>C	c.(2806-2808)Tac>Cac	p.Y936H	ZNF217_ENST00000302342.3_Missense_Mutation_p.Y936H			O75362	ZN217_HUMAN	zinc finger protein 217	936					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CCTCTTCTGTAATTGGCCCCG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	96	103			NA	NA	20		NA											NA				52192497		2203	4300	6503	SO:0001583	missense			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940	7764	7764		Zinc fingers, C2H2-type	13009	protein-coding gene	gene with protein product		602967			NA	9671742	Standard	NM_006526	NM_006526	NA	Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.2806T>C	20.37:g.52192497A>G	ENSP00000360526:p.Tyr936His	NA	E1P5Y6|Q14DB8	37	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.964716	0.34659	.	.	ENSG00000171940	ENST00000371471;ENST00000302342;ENST00000437222;ENST00000395971	T;T	0.09630	2.96;2.96	5.25	2.93	0.34026	.	1.460060	0.03847	N	0.271603	T	0.13927	0.0337	L	0.48642	1.525	0.09310	N	1	P	0.50943	0.94	P	0.44732	0.459	T	0.16305	-1.0407	10	0.51188	T	0.08	-9.4007	4.8027	0.13305	0.6039:0.159:0.2371:0.0	.	936	O75362	ZN217_HUMAN	H	936;936;24;96	ENSP00000360526:Y936H;ENSP00000304308:Y936H	ENSP00000304308:Y936H	Y	-	1	0	ZNF217	51625904	0.004000	0.15560	0.001000	0.08648	0.006000	0.05464	0.839000	0.27586	0.297000	0.22615	0.528000	0.53228	TAC	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079757.2		-	ENST00000371471.2	Missense_Mutation	SNP	20 : 52192497 - 52192497 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	60
AMTN	401138	broad.mit.edu	37	4	71396761	71396761	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71396761A>C	ENST00000339336.4	+	8	493	c.363A>C	c.(361-363)caA>caC	p.Q121H	AMTN_ENST00000504451.1_Missense_Mutation_p.Q120H	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	121					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			TCCAGCCACAAATCTTCACGA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	42	42			NA	NA	4		NA											NA				71396761		2203	4300	6503	SO:0001583	missense			AY358528	CCDS3542.1, CCDS68716.1	4q13.3	2006-12-12			ENSG00000187689	ENSG00000187689	401138	401138			33188	protein-coding gene	gene with protein product		610912			NA	16304441	Standard	NM_212557	NM_001286731	NA	Approved	UNQ689, RSTI689	uc003hfk.1	Q6UX39	OTTHUMG00000129906	ENST00000339336.4:c.363A>C	4.37:g.71396761A>C	ENSP00000341013:p.Gln121His	NA	Q0P503|Q0P506	37	CCDS3542.1	.	.	.	.	.	.	.	.	.	.	A	9.341	1.062974	0.19987	.	.	ENSG00000187689	ENST00000339336;ENST00000504451	T;T	0.70045	-0.45;-0.45	6.01	-3.7	0.04437	.	0.365001	0.24285	N	0.039878	T	0.45736	0.1357	L	0.32530	0.975	0.19300	N	0.999972	B;B	0.27140	0.169;0.169	B;B	0.25884	0.064;0.064	T	0.32107	-0.9919	10	0.51188	T	0.08	-0.0032	6.0287	0.19669	0.32:0.3932:0.2867:0.0	.	120;121	Q6UX39-2;Q6UX39	.;AMTN_HUMAN	H	121;120	ENSP00000341013:Q121H;ENSP00000422452:Q120H	ENSP00000341013:Q121H	Q	+	3	2	AMTN	71431350	0.993000	0.37304	0.090000	0.20809	0.062000	0.15995	0.194000	0.17135	-0.335000	0.08451	-0.321000	0.08615	CAA	AMTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252157.1		+	ENST00000339336.4	Missense_Mutation	SNP	4 : 71396761 - 71396761 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	218	44
TXNDC17	84817	broad.mit.edu	37	17	6544417	6544417	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6544417G>T	ENST00000570330.1	+	1	82	c.15G>T	c.(13-15)gaG>gaT	p.E5D	TXNDC17_ENST00000250101.5_Missense_Mutation_p.E5D|TXNDC17_ENST00000574838.1_Missense_Mutation_p.E5D			Q9BRA2	TXD17_HUMAN	thioredoxin domain containing 17	5					tumor necrosis factor-mediated signaling pathway	cytosol	electron carrier activity|peroxidase activity|protein binding|protein-disulfide reductase activity			endometrium(1)|kidney(1)|ovary(1)	3						CCCGCTATGAGGAGGTGAGCG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	28	28			NA	NA	17		NA											NA				6544417		2203	4300	6503	SO:0001583	missense			BC006405	CCDS11077.1	17p13.2	2007-08-16	2007-08-16	2007-08-16	ENSG00000129235	ENSG00000129235	84817	84817			28218	protein-coding gene	gene with protein product	thioredoxin (Trx)-related protein, 14 kDa		thioredoxin-like 5	TXNL5	NA	14607844, 14607843	Standard	NM_032731	NM_032731	NA	Approved	MGC14353, TRP14	uc002gdf.4	Q9BRA2	OTTHUMG00000102053	ENST00000570330.1:c.15G>T	17.37:g.6544417G>T	ENSP00000459868:p.Glu5Asp	NA	A8K7E8	37		.	.	.	.	.	.	.	.	.	.	G	11.69	1.712972	0.30413	.	.	ENSG00000129235	ENST00000250101	.	.	.	5.17	0.693	0.18056	Thioredoxin-like fold (2);	0.104888	0.64402	D	0.000005	T	0.55226	0.1907	M	0.77616	2.38	0.41089	D	0.985587	B	0.13594	0.008	B	0.08055	0.003	T	0.48317	-0.9046	9	0.51188	T	0.08	-1.5413	4.211	0.10512	0.3585:0.0:0.4922:0.1493	.	5	Q9BRA2	TXD17_HUMAN	D	5	.	ENSP00000250101:E5D	E	+	3	2	TXNDC17	6485141	1.000000	0.71417	0.309000	0.25155	0.114000	0.19823	0.547000	0.23299	-0.009000	0.14296	-0.251000	0.11542	GAG	TXNDC17-010	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000439248.1		+	ENST00000570330.1	Missense_Mutation	SNP	17 : 6544417 - 6544417 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	180	34
OSBPL8	114882	broad.mit.edu	37	12	76749729	76749729	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76749729G>T	ENST00000261183.3	-	24	3089	c.2610C>A	c.(2608-2610)gaC>gaA	p.D870E	OSBPL8_ENST00000393250.4_Missense_Mutation_p.D828E|OSBPL8_ENST00000393249.2_Missense_Mutation_p.D828E	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	870					lipid transport		lipid binding	p.D870E(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TGATGAAGTAGTCTTTTTGTT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	breast(1)											90	92	91			NA	NA	12		NA											NA				76749729		2203	4300	6503	SO:0001583	missense			AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039	114882	114882		Oxysterol binding proteins, Pleckstrin homology (PH) domain containing	16396	protein-coding gene	gene with protein product		606736			NA	1735225, 17991739	Standard	NM_020841	NM_020841	NA	Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.2610C>A	12.37:g.76749729G>T	ENSP00000261183:p.Asp870Glu	NA	A8K1T2|Q52LQ3|Q8WXP8|Q9P277	37	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.578119	0.28180	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250	T;T;T	0.29142	1.6;1.58;1.6	6.06	4.2	0.49525	.	2.308210	0.00932	N	0.002729	T	0.23492	0.0568	N	0.24115	0.695	0.37192	D	0.903997	B	0.06786	0.001	B	0.06405	0.002	T	0.40720	-0.9548	10	0.02654	T	1	-8.2239	11.7761	0.51987	0.064:0.0:0.8122:0.1238	.	870	Q9BZF1	OSBL8_HUMAN	E	828;870;855;828	ENSP00000376939:D828E;ENSP00000261183:D870E;ENSP00000376940:D828E	ENSP00000261183:D870E	D	-	3	2	OSBPL8	75273860	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.489000	0.53237	0.856000	0.35383	0.655000	0.94253	GAC	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406357.1		-	ENST00000261183.3	Missense_Mutation	SNP	12 : 76749729 - 76749729 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	252	40
ZNF425	155054	broad.mit.edu	37	7	148801223	148801223	+	Missense_Mutation	SNP	C	C	A	rs143783393		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148801223C>A	ENST00000378061.2	-	4	1872	c.1740G>T	c.(1738-1740)aaG>aaT	p.K580N		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	580					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ACGCGAAGGGCTTCTCGTCCC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	62	66			NA	NA	7		NA											NA				148801223		2203	4300	6503	SO:0001583	missense			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947	155054	155054		Zinc fingers, C2H2-type, -	20690	protein-coding gene	gene with protein product					NA		Standard	XM_088140	NM_001001661	NA	Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1740G>T	7.37:g.148801223C>A	ENSP00000367300:p.Lys580Asn	NA	B3KPM1|Q08AG3	37	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.567119	0.45694	.	.	ENSG00000204947	ENST00000378061	T	0.08546	3.08	3.42	2.51	0.30379	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19967	0.0480	M	0.81112	2.525	0.27794	N	0.94271	D	0.59357	0.985	P	0.54590	0.756	T	0.07158	-1.0787	9	0.87932	D	0	.	5.9994	0.19511	0.0:0.7513:0.0:0.2486	.	580	Q6IV72	ZN425_HUMAN	N	580	ENSP00000367300:K580N	ENSP00000367300:K580N	K	-	3	2	ZNF425	148432156	0.097000	0.21791	0.054000	0.19295	0.376000	0.30014	0.637000	0.24659	0.741000	0.32674	0.655000	0.94253	AAG	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352726.1		-	ENST00000378061.2	Missense_Mutation	SNP	7 : 148801223 - 148801223 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	405	68
MET	4233	broad.mit.edu	37	7	116381004	116381004	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116381004C>T	ENST00000397752.3	+	5	1826	c.1626C>T	c.(1624-1626)caC>caT	p.H542H	MET_ENST00000318493.6_Silent_p.H542H|MET_ENST00000436117.2_Silent_p.H542H|MET_ENST00000495962.1_3'UTR	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	MET proto-oncogene, receptor tyrosine kinase	542					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GCTGGTGCCACGACAAATGTG	0.522		NA	Mis		papillary renal, head-neck squamous cell 	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0													104	109	107			NA	NA	7		NA											NA				116381004		1965	4142	6107	SO:0001819	synonymous_variant	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	NA	4233	2.7.10.1		7029	protein-coding gene	gene with protein product	hepatocyte growth factor receptor	164860	met proto-oncogene		NA	1846706, 1611909	Standard		NM_001127500	NA	Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000397752.3:c.1626C>T	7.37:g.116381004C>T		NA	O60366|Q12875|Q9UDX7|Q9UPL8	37	CCDS43636.1																																																																																			MET-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000141947.3		+	ENST00000397752.3	Silent	SNP	7 : 116381004 - 116381004 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	665	127
TEKT4	150483	broad.mit.edu	37	2	95537600	95537600	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95537600C>T	ENST00000295201.4	+	1	413	c.276C>T	c.(274-276)ggC>ggT	p.G92G	AC097374.2_ENST00000568768.1_RNA|TEKT4_ENST00000427593.2_Silent_p.G92G	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	92					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GCACAGTGGGCGAGCGACTGC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	14	14			NA	NA	2		NA											NA				95537600		2189	4285	6474	SO:0001819	synonymous_variant			AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060	150483	150483			31012	protein-coding gene	gene with protein product					NA		Standard	NM_144705	XM_005263876	NA	Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.276C>T	2.37:g.95537600C>T		NA		37	CCDS2005.1																																																																																			TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252777.1		+	ENST00000295201.4	Silent	SNP	2 : 95537600 - 95537600 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	136	47
NINL	22981	broad.mit.edu	37	20	25470535	25470535	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25470535G>A	ENST00000278886.6	-	12	1645	c.1572C>T	c.(1570-1572)gaC>gaT	p.D524D	NINL_ENST00000422516.1_Silent_p.D524D	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	524					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CAAACTCCAGGTCCTTCTGCA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	153	159			NA	NA	20		NA											NA				25470535		2203	4300	6503	SO:0001819	synonymous_variant				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004	22981	22981		EF-hand domain containing	29163	protein-coding gene	gene with protein product	ninein-like protein	609580			NA	10231032	Standard	NM_025176	XM_005260678	NA	Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.1572C>T	20.37:g.25470535G>A		NA	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	37	CCDS33452.1																																																																																			NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078445.3		-	ENST00000278886.6	Silent	SNP	20 : 25470535 - 25470535 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	714	140
MTRF1L	54516	broad.mit.edu	37	6	153315696	153315696	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:153315696G>A	ENST00000367233.5	-	4	638	c.639C>T	c.(637-639)cgC>cgT	p.R213R	MTRF1L_ENST00000464135.1_5'UTR|MTRF1L_ENST00000367230.1_Silent_p.R177R|MTRF1L_ENST00000367231.5_Silent_p.R213R	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor 1-like	213						mitochondrion	translation release factor activity, codon specific			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		TAGTATGGACGCGGCCTTGCT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	2,4404	4.2+/-10.8	0,2,2201	183	159	168		639,639	4.1	1	6		168	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MTRF1L	NM_001114184.1,NM_019041.5	,	0,2,6501	AA,AG,GG	NA	0.0,0.0454,0.0154	,	213/272,213/381	153315696	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			BC011873	CCDS5243.1, CCDS47502.1, CCDS75540.1	6q25-q26	2008-02-05			ENSG00000112031	ENSG00000112031	54516	54516			21051	protein-coding gene	gene with protein product		613542			NA		Standard	NM_019041	NM_019041	NA	Approved		uc003qpi.4	Q9UGC7	OTTHUMG00000015857	ENST00000367233.5:c.639C>T	6.37:g.153315696G>A		NA	B3KTA0|Q3KR06|Q5TF44|Q5TF50|Q96CC5|Q96EX4|Q96K40	37	CCDS5243.1																																																																																			MTRF1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042764.1		-	ENST00000367233.5	Silent	SNP	6 : 153315696 - 153315696 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	563	101
PYGL	5836	broad.mit.edu	37	14	51378995	51378995	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51378995G>A	ENST00000216392.7	-	14	1979	c.1647C>T	c.(1645-1647)ttC>ttT	p.F549F	PYGL_ENST00000532462.1_Silent_p.F549F|RP11-218E20.5_ENST00000557343.1_RNA|PYGL_ENST00000544180.2_Silent_p.F515F	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	549					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	CCGTCTCCAGGAACTGAGAAA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	159	161			NA	NA	14		NA											NA				51378995		2203	4300	6503	SO:0001819	synonymous_variant				CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	5836	5836	2.4.1.1	Glycogen phosphorylases	9725	protein-coding gene	gene with protein product	Hers disease, glycogen storage disease type VI, glycogen phosphorylase, liver form	613741	phosphorylase, glycogen; liver		NA	2877458	Standard	NM_002863	NM_002863	NA	Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.1647C>T	14.37:g.51378995G>A		NA	A6NDQ4|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	37	CCDS32080.1																																																																																			PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390654.3		-	ENST00000216392.7	Silent	SNP	14 : 51378995 - 51378995 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	919	135
PHLDB2	90102	broad.mit.edu	37	3	111603040	111603040	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111603040G>A	ENST00000431670.2	+	2	527	c.116G>A	c.(115-117)aGc>aAc	p.S39N	PHLDB2_ENST00000481953.1_Missense_Mutation_p.S39N|PHLDB2_ENST00000393923.3_Missense_Mutation_p.S66N|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S39N|PHLDB2_ENST00000412622.1_Missense_Mutation_p.S39N|PHLDB2_ENST00000478922.1_Missense_Mutation_p.S39N|PHLDB2_ENST00000477695.1_Missense_Mutation_p.S39N	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	39						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GAGAGCCTCAGCCCAAAGAAA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	142	141			NA	NA	3		NA											NA				111603040		2203	4300	6503	SO:0001583	missense				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824	90102	90102		Pleckstrin homology (PH) domain containing	29573	protein-coding gene	gene with protein product		610298			NA	12376540	Standard	NM_145753	NM_145753	NA	Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.116G>A	3.37:g.111603040G>A	ENSP00000405405:p.Ser39Asn	NA	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	37	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	G	5.779	0.328165	0.10956	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.30182	1.54;1.54;1.56;1.56;1.54;1.56	5.87	4.06	0.47325	.	0.327773	0.38058	N	0.001831	T	0.14399	0.0348	N	0.11560	0.145	0.24589	N	0.99384	B;B;B;B;B	0.10296	0.0;0.003;0.001;0.0;0.0	B;B;B;B;B	0.11329	0.0;0.006;0.004;0.001;0.001	T	0.20773	-1.0265	10	0.16420	T	0.52	.	8.4181	0.32683	0.2311:0.0:0.7689:0.0	.	39;39;39;39;66	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	N	66;66;39;39;39;39;39;39;39	ENSP00000377500:S66N;ENSP00000405405:S39N;ENSP00000405292:S39N;ENSP00000418296:S39N;ENSP00000377502:S39N;ENSP00000418319:S39N	ENSP00000352764:S66N	S	+	2	0	PHLDB2	113085730	0.998000	0.40836	0.999000	0.59377	0.724000	0.41520	1.185000	0.32065	1.631000	0.50456	0.655000	0.94253	AGC	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354337.1		+	ENST00000431670.2	Missense_Mutation	SNP	3 : 111603040 - 111603040 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	697	130
SLC18A2	6571	broad.mit.edu	37	10	119003809	119003809	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:119003809G>A	ENST00000298472.5	+	3	592	c.449G>A	c.(448-450)gGa>gAa	p.G150E	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	150					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CCTTTCATAGGACTACTGACC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	50	50			NA	NA	10		NA											NA				119003809		2203	4300	6503	SO:0001583	missense			L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646	6571	6571		Solute carriers	10935	protein-coding gene	gene with protein product		193001		VMAT2	NA		Standard	NM_003054	NM_003054	NA	Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.449G>A	10.37:g.119003809G>A	ENSP00000298472:p.Gly150Glu	NA	B2RC96|D3DRC4|Q15876|Q5VW49|Q9H3P6	37	CCDS7599.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.815283	0.90790	.	.	ENSG00000165646	ENST00000298472	T	0.73469	-0.75	5.71	5.71	0.89125	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.89760	0.6808	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91690	0.5365	10	0.87932	D	0	-11.3411	18.0482	0.89340	0.0:0.0:1.0:0.0	.	150	Q05940	VMAT2_HUMAN	E	150	ENSP00000298472:G150E	ENSP00000298472:G150E	G	+	2	0	SLC18A2	118993799	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.869000	0.99810	2.709000	0.92574	0.655000	0.94253	GGA	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050563.1		+	ENST00000298472.5	Missense_Mutation	SNP	10 : 119003809 - 119003809 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	134	25
NIPBL	25836	broad.mit.edu	37	5	36961636	36961636	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36961636C>T	ENST00000282516.8	+	5	908	c.409C>T	c.(409-411)Cct>Tct	p.P137S	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.P137S	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	137					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GCACAGTAGTCCTGCATCTTC	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	148	149			NA	NA	5		NA											NA				36961636		2203	4299	6502	SO:0001583	missense			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190	25836	25836			28862	protein-coding gene	gene with protein product	sister chromatid cohesion 2 homolog (yeast)	608667			NA	15146186, 15146185	Standard	NM_015384	NM_133433	NA	Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.409C>T	5.37:g.36961636C>T	ENSP00000282516:p.Pro137Ser	NA	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164427	0.78339	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.95518	-3.72;-3.73	5.01	5.01	0.66863	.	0.204155	0.42821	D	0.000642	D	0.96531	0.8868	M	0.62723	1.935	0.51482	D	0.999924	D;D	0.69078	0.994;0.997	P;P	0.59357	0.637;0.856	D	0.95418	0.8504	10	0.30078	T	0.28	.	18.2672	0.90055	0.0:1.0:0.0:0.0	.	137;137	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	S	137	ENSP00000282516:P137S;ENSP00000406266:P137S	ENSP00000282516:P137S	P	+	1	0	NIPBL	36997393	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.756000	0.47549	2.481000	0.83766	0.655000	0.94253	CCT	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207582.1		+	ENST00000282516.8	Missense_Mutation	SNP	5 : 36961636 - 36961636 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	558	89
DNAH8	1769	broad.mit.edu	37	6	38890961	38890961	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38890961G>T	ENST00000359357.3	+	70	10393	c.10139G>T	c.(10138-10140)aGa>aTa	p.R3380I	RP1-207H1.3_ENST00000418399.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Splice_Site_p.R3344I|DNAH8_ENST00000449981.2_Splice_Site_p.R3597I					dynein, axonemal, heavy chain 8	NA										NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAGATTAATAGGTGGGAATCT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	49	48			NA	NA	6		NA											NA				38890961		2203	4300	6503	SO:0001630	splice_region_variant			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721	1769	1769		Axonemal dyneins	2952	protein-coding gene	gene with protein product		603337	dynein, axonemal, heavy polypeptide 8		NA	9373155	Standard	NM_001206927	NM_001206927	NA	Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.10139+1G>T	6.37:g.38890961G>T		NA		37		.	.	.	.	.	.	.	.	.	.	G	20.4	3.991528	0.74703	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.73897	-0.79;-0.79;-0.79	5.33	5.33	0.75918	Dynein heavy chain, coiled coil stalk (1);	0.204756	0.45361	D	0.000374	D	0.87346	0.6154	H	0.94886	3.595	0.58432	D	0.999999	D	0.55172	0.97	P	0.59825	0.864	D	0.89862	0.4017	10	0.59425	D	0.04	.	17.56	0.87903	0.0:0.0:1.0:0.0	.	3380	Q96JB1	DYH8_HUMAN	I	3585;3585;3380;3344	ENSP00000333363:R3585I;ENSP00000352312:R3380I;ENSP00000402294:R3344I	ENSP00000333363:R3585I	R	+	2	0	DNAH8	38998939	1.000000	0.71417	0.996000	0.52242	0.622000	0.37654	6.015000	0.70791	2.644000	0.89710	0.655000	0.94253	AGA	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000043574.1	Missense_Mutation	+	ENST00000359357.3	Splice_Site	SNP	6 : 38890961 - 38890961 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	281	42
NRXN2	9379	broad.mit.edu	37	11	64374726	64374726	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64374726G>A	ENST00000377559.3	-	20	5332	c.4871C>T	c.(4870-4872)gCt>gTt	p.A1624V	NRXN2_ENST00000409571.1_Missense_Mutation_p.A1687V|NRXN2_ENST00000377551.1_Missense_Mutation_p.A1694V|NRXN2_ENST00000301894.2_Missense_Mutation_p.A648V|NRXN2_ENST00000265459.6_Missense_Mutation_p.A1694V	NM_138732.2	NP_620060.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1694					cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CTTGGGGGCAGCCGGGGCCTT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	44	42			NA	NA	11		NA											NA				64374726		2201	4297	6498	SO:0001583	missense				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076	9379	9379			8009	protein-coding gene	gene with protein product	neurexin II	600566			NA	1621094	Standard	NM_015080	NM_015080	NA	Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377559.3:c.4871C>T	11.37:g.64374726G>A	ENSP00000366782:p.Ala1624Val	NA	A7E2C1|Q9Y2D6	37	CCDS31597.1	.	.	.	.	.	.	.	.	.	.	G	5.066	0.197830	0.09652	.	.	ENSG00000110076	ENST00000301894;ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T;T	0.62498	0.52;0.02;0.07;0.02;0.12	4.46	3.53	0.40419	.	0.516541	0.15138	U	0.278438	T	0.47655	0.1457	N	0.14661	0.345	0.09310	N	1	P;B;B;B	0.35139	0.486;0.014;0.021;0.263	B;B;B;B	0.40565	0.333;0.017;0.014;0.071	T	0.44528	-0.9322	10	0.56958	D	0.05	.	9.4359	0.38639	0.1061:0.0:0.8939:0.0	.	1624;1694;1440;648	Q9P2S2-2;Q9P2S2;E7EV67;P58401	.;NRX2A_HUMAN;.;NRX2B_HUMAN	V	648;1694;1624;1694;1624;1687	ENSP00000301894:A648V;ENSP00000366774:A1694V;ENSP00000366782:A1624V;ENSP00000265459:A1694V;ENSP00000386416:A1687V	ENSP00000265459:A1694V	A	-	2	0	NRXN2	64131302	1.000000	0.71417	0.067000	0.19924	0.111000	0.19643	5.981000	0.70524	2.033000	0.60031	0.313000	0.20887	GCT	NRXN2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000141951.1		-	ENST00000377559.3	Missense_Mutation	SNP	11 : 64374726 - 64374726 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	230	38
FKBP10	60681	broad.mit.edu	37	17	39978520	39978520	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39978520C>A	ENST00000321562.4	+	10	1713	c.1609C>A	c.(1609-1611)Ctc>Atc	p.L537I	FKBP10_ENST00000544340.1_Missense_Mutation_p.L310I	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	537					protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CAAAGGACGCCTCATGCCTGG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	57	61			NA	NA	17		NA											NA				39978520		2203	4300	6503	SO:0001583	missense			AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756	60681	60681		EF-hand domain containing	18169	protein-coding gene	gene with protein product		607063	FK506 binding protein 10 (65 kDa)		NA	11071917, 18786928	Standard	NM_021939	NM_021939	NA	Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.1609C>A	17.37:g.39978520C>A	ENSP00000317232:p.Leu537Ile	NA	Q7Z3R4|Q9H3N3|Q9H6N5|Q9UF89	37	CCDS11409.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.018100|4.018100	0.75275|0.75275	.|.	.|.	ENSG00000141756|ENSG00000141756	ENST00000269598;ENST00000321562;ENST00000544340|ENST00000414352	T;T|.	0.55052|.	0.54;0.54|.	5.73|5.73	5.73|5.73	0.89815|0.89815	EF-hand-like domain (1);|.	0.085714|.	0.48286|.	D|.	0.000194|.	T|T	0.48150|0.48150	0.1484|0.1484	L|L	0.28115|0.28115	0.83|0.83	0.49130|0.49130	D|D	0.999752|0.999752	P;B|.	0.45283|.	0.855;0.077|.	B;B|.	0.44163|.	0.443;0.021|.	T|T	0.50742|0.50742	-0.8792|-0.8792	10|6	0.34782|0.72032	T|D	0.22|0.01	-27.9767|-27.9767	8.9862|8.9862	0.35994|0.35994	0.1487:0.7782:0.0:0.0731|0.1487:0.7782:0.0:0.0731	.|.	310;537|.	Q9H6J3;Q96AY3|.	.;FKB10_HUMAN|.	I|H	425;537;310|536	ENSP00000317232:L537I;ENSP00000442009:L310I|.	ENSP00000269598:L425I|ENSP00000389800:P536H	L|P	+|+	1|2	0|0	FKBP10|FKBP10	37232046|37232046	0.995000|0.995000	0.38212|0.38212	0.998000|0.998000	0.56505|0.56505	0.858000|0.858000	0.48976|0.48976	3.196000|3.196000	0.51020|0.51020	2.721000|2.721000	0.93114|0.93114	0.655000|0.655000	0.94253|0.94253	CTC|CCT	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257410.2		+	ENST00000321562.4	Missense_Mutation	SNP	17 : 39978520 - 39978520 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	169	14
HIPK4	147746	broad.mit.edu	37	19	40889978	40889978	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40889978C>T	ENST00000291823.2	-	2	818	c.534G>A	c.(532-534)tcG>tcA	p.S178S		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	178	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GGTAGAAGCGCGACTGGATGT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	59	60			NA	NA	19		NA											NA				40889978		2203	4300	6503	SO:0001819	synonymous_variant			BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396	147746	147746			19007	protein-coding gene	gene with protein product		611712			NA		Standard	NM_144685	NM_144685	NA	Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.534G>A	19.37:g.40889978C>T		NA	A8K863|Q96M54	37	CCDS12555.1																																																																																			HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462593.1		-	ENST00000291823.2	Silent	SNP	19 : 40889978 - 40889978 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	500	98
BIRC8	112401	broad.mit.edu	37	19	53793138	53793138	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53793138C>A	ENST00000426466.1	-	1	1737	c.490G>T	c.(490-492)Gaa>Taa	p.E164*		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	164					apoptosis		zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TGATTCAATTCATTTTCTGTA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	91	91			NA	NA	19		NA											NA				53793138		2203	4300	6503	SO:0001587	stop_gained			AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098	112401	112401		Baculoviral IAP repeat containing	14878	protein-coding gene	gene with protein product	IAP-like protein 2, inhibitor of apoptosis-like protein 2		baculoviral IAP repeat-containing 8		NA	11390657	Standard	NM_033341	NM_033341	NA	Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.490G>T	19.37:g.53793138C>A	ENSP00000412957:p.Glu164*	NA	Q6IPY1|Q96RW5	37	CCDS12863.1	.	.	.	.	.	.	.	.	.	.	C	43	10.294075	0.99377	.	.	ENSG00000163098	ENST00000426466	.	.	.	0.502	0.502	0.16932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-7.5152	6.9506	0.24542	0.0:0.9999:0.0:1.0E-4	.	.	.	.	X	164	.	ENSP00000412957:E164X	E	-	1	0	BIRC8	58484950	0.163000	0.22920	0.023000	0.16930	0.013000	0.08279	1.173000	0.31920	0.578000	0.29487	0.420000	0.28162	GAA	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464357.1		-	ENST00000426466.1	Nonsense_Mutation	SNP	19 : 53793138 - 53793138 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	524	97
PSG5	5673	broad.mit.edu	37	19	43679390	43679390	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43679390T>G	ENST00000404580.1	-	4	1029	c.941A>C	c.(940-942)aAa>aCa	p.K314T	PSG5_ENST00000366175.3_Missense_Mutation_p.K314T|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000599812.1_Missense_Mutation_p.K407T|PSG5_ENST00000342951.6_Missense_Mutation_p.K314T|PSG5_ENST00000407356.1_Missense_Mutation_p.K314T			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	314	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TGTCATGGATTTGGAGCTTTC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	139	130			NA	NA	19		NA											NA				43679390		2202	4294	6496	SO:0001583	missense				CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941	5673	5673		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	9522	protein-coding gene	gene with protein product	pregnancy-specific beta-1 glycoprotein, pregnancy-specific beta 1 glycoprotein	176394			NA	2735907	Standard	NM_002781	NM_002781	NA	Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000404580.1:c.941A>C	19.37:g.43679390T>G	ENSP00000385250:p.Lys314Thr	NA	Q15239|Q96QJ1|Q9UQ75	37		.	.	.	.	.	.	.	.	.	.	t	0.004	-2.374823	0.00207	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000342951;ENST00000404580	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	1.25	-0.00511	0.14018	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.05273	0.0140	N	0.11756	0.17	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.17722	0.019;0.006	T	0.43393	-0.9394	9	0.02654	T	1	.	4.6039	0.12366	0.0:0.0:0.626:0.374	.	407;314	Q15228;Q15238	.;PSG5_HUMAN	T	314	ENSP00000382334:K314T;ENSP00000386008:K314T;ENSP00000344413:K314T;ENSP00000385250:K314T	ENSP00000344413:K314T	K	-	2	0	PSG5	48371230	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.706000	0.05047	-0.160000	0.11002	-1.566000	0.00877	AAA	PSG5-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000323058.1		-	ENST00000404580.1	Missense_Mutation	SNP	19 : 43679390 - 43679390 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1406	236
DDX3X	1654	broad.mit.edu	37	X	41204512	41204512	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41204512A>G	ENST00000399959.2	+	11	1960	c.1105A>G	c.(1105-1107)Act>Gct	p.T369A	DDX3X_ENST00000457138.2_Missense_Mutation_p.T353A|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000441189.2_Intron	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	369	Helicase ATP-binding.|Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CGAACAAGATACTATGCCTCC	0.378		NA								HNSCC(61;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	135	137			NA	NA	X		NA											NA				41204512		2167	4289	6456	SO:0001583	missense			U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301	1654	1654		DEAD-boxes	2745	protein-coding gene	gene with protein product		300160	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3, DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked	DDX3	NA	9381176, 9730595	Standard	NM_024005	NM_001193416	NA	Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.1105A>G	X.37:g.41204512A>G	ENSP00000382840:p.Thr369Ala	NA	A8K538|O15536	37	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	a	15.73	2.920645	0.52653	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	T;T	0.16897	2.31;2.31	5.37	5.37	0.77165	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.10895	0.0266	N	0.10874	0.06	0.80722	D	1	B;B;B;B	0.10296	0.003;0.002;0.001;0.001	B;B;B;B	0.15052	0.012;0.008;0.012;0.012	T	0.11767	-1.0574	10	0.36615	T	0.2	-5.5069	14.5265	0.67892	1.0:0.0:0.0:0.0	.	369;353;381;369	B4DLU5;B4E3E8;Q59GX6;O00571	.;.;.;DDX3X_HUMAN	A	369;353	ENSP00000382840:T369A;ENSP00000392494:T353A	ENSP00000382840:T369A	T	+	1	0	DDX3X	41089456	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.520000	0.81821	1.810000	0.52873	0.427000	0.28365	ACT	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056253.1		+	ENST00000399959.2	Missense_Mutation	SNP	X : 41204512 - 41204512 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	466	146
BCL6B	255877	broad.mit.edu	37	17	6927518	6927518	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6927518C>T	ENST00000293805.5	+	3	388	c.296C>T	c.(295-297)tCg>tTg	p.S99L	BCL6B_ENST00000572216.1_Intron	NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	99	BTB.					nucleus	zinc ion binding			skin(1)	1						ATGTACACTTCGCGCCTGCGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	64	61			NA	NA	17		NA											NA				6927518		2018	4173	6191	SO:0001583	missense			AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940	255877	255877		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	1002	protein-coding gene	gene with protein product		608992	zinc finger protein 62, B-cell CLL/lymphoma 6, member B (zinc finger protein)	ZNF62	NA	9632807	Standard	NM_181844	NM_181844	NA	Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	ENST00000293805.5:c.296C>T	17.37:g.6927518C>T	ENSP00000293805:p.Ser99Leu	NA	Q6PCB4	37	CCDS42248.1	.	.	.	.	.	.	.	.	.	.	C	35	5.528841	0.96446	.	.	ENSG00000161940	ENST00000293805	T	0.71461	-0.57	5.18	5.18	0.71444	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.88771	0.6527	H	0.95504	3.68	0.48830	D	0.999714	D	0.89917	1.0	D	0.97110	1.0	D	0.91724	0.5391	10	0.87932	D	0	.	16.2254	0.82286	0.0:1.0:0.0:0.0	.	99	Q8N143	BCL6B_HUMAN	L	99	ENSP00000293805:S99L	ENSP00000293805:S99L	S	+	2	0	BCL6B	6868242	1.000000	0.71417	0.932000	0.37286	0.913000	0.54294	7.174000	0.77620	2.691000	0.91804	0.563000	0.77884	TCG	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000439455.2		+	ENST00000293805.5	Missense_Mutation	SNP	17 : 6927518 - 6927518 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1027	92
ADRA2C	152	broad.mit.edu	37	4	3768908	3768908	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3768908G>A	ENST00000330055.5	+	1	784	c.575G>A	c.(574-576)cGc>cAc	p.R192H	ADRA2C_ENST00000509482.1_Missense_Mutation_p.R192H	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	192					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	TCGCTCTACCGCCAGCCCGAC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(12;454 628 4517 14479)							NA				0													17	19	18			NA	NA	4		NA											NA				3768908		2187	4292	6479	SO:0001583	missense			AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160	152	152		GPCR / Class A : Adrenoceptors : alpha	283	protein-coding gene	gene with protein product		104250	adrenergic, alpha-2C-, receptor	ADRA2L2, ADRA2RL2	NA	1849485	Standard	NM_000683	NM_000683	NA	Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.575G>A	4.37:g.3768908G>A	ENSP00000386069:p.Arg192His	NA	P35369|Q9HB49	37	CCDS47004.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.722940	0.48728	.	.	ENSG00000184160	ENST00000509482;ENST00000330055	T;T	0.37915	1.17;1.17	3.37	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.31071	0.0785	L	0.53617	1.68	0.50171	D	0.999851	P;B	0.42584	0.784;0.344	B;B	0.34452	0.183;0.07	T	0.30592	-0.9973	9	0.45353	T	0.12	.	13.8998	0.63797	0.0:0.0:1.0:0.0	.	192;192	D6RGL0;P18825	.;ADA2C_HUMAN	H	192	ENSP00000426268:R192H;ENSP00000386069:R192H	ENSP00000386069:R192H	R	+	2	0	ADRA2C	3738706	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	4.140000	0.58031	1.706000	0.51276	0.561000	0.74099	CGC	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357607.1		+	ENST00000330055.5	Missense_Mutation	SNP	4 : 3768908 - 3768908 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	143	30
TEAD4	7004	broad.mit.edu	37	12	3120191	3120191	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3120191G>A	ENST00000359864.2	+	4	438	c.248G>A	c.(247-249)cGc>cAc	p.R83H	TEAD4_ENST00000397122.2_5'UTR|TEAD4_ENST00000358409.2_Missense_Mutation_p.R83H	NM_003213.3	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4	83					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CTGATTGCCCGCTACATCAAG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	72	73			NA	NA	12		NA											NA				3120191		2203	4300	6503	SO:0001583	missense			X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905	7004	7004			11717	protein-coding gene	gene with protein product		601714		TCF13L1	NA	9889009, 8921372	Standard	NM_003213	NM_003213	NA	Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000359864.2:c.248G>A	12.37:g.3120191G>A	ENSP00000352926:p.Arg83His	NA	Q92883|Q96BK2	37	CCDS31729.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860372	0.91433	.	.	ENSG00000197905	ENST00000358409;ENST00000359864;ENST00000543035	T;T;T	0.34472	1.36;1.36;1.36	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.70448	0.3225	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79519	-0.1770	10	0.87932	D	0	-22.6944	15.6893	0.77436	0.0:0.0:1.0:0.0	.	83	Q15561	TEAD4_HUMAN	H	83	ENSP00000351184:R83H;ENSP00000352926:R83H;ENSP00000444528:R83H	ENSP00000351184:R83H	R	+	2	0	TEAD4	2990452	0.997000	0.39634	0.998000	0.56505	0.955000	0.61496	7.666000	0.83877	2.556000	0.86216	0.561000	0.74099	CGC	TEAD4-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398475.1		+	ENST00000359864.2	Missense_Mutation	SNP	12 : 3120191 - 3120191 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	543	115
MFN1	55669	broad.mit.edu	37	3	179076766	179076766	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179076766A>G	ENST00000471841.1	+	4	513	c.387A>G	c.(385-387)ggA>ggG	p.G129G	MFN1_ENST00000280653.7_Silent_p.G129G|MFN1_ENST00000263969.5_Silent_p.G129G	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	129					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TGACAGAAGGATCAGATGAAA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	121	124			NA	NA	3		NA											NA				179076766		2203	4300	6503	SO:0001819	synonymous_variant			AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109	55669	55669			18262	protein-coding gene	gene with protein product		608506			NA	8358434, 11181170	Standard	NM_017927	NM_033540	NA	Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.387A>G	3.37:g.179076766A>G		NA	B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	37	CCDS3228.1																																																																																			MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348654.2		+	ENST00000471841.1	Silent	SNP	3 : 179076766 - 179076766 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	369	68
CNTD1	124817	broad.mit.edu	37	17	40951182	40951182	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40951182G>T	ENST00000588527.1	+	1	132				CNTD1_ENST00000588408.1_Missense_Mutation_p.A33S			Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	NA										central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GCTTCACTTGGCCCAGCAGAA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	43	44			NA	NA	17		NA											NA				40951182		2203	4300	6503	SO:0001627	intron_variant			AK097456	CCDS11440.1	17q21.31	2014-07-03	2006-03-31	2006-03-31	ENSG00000176563	ENSG00000176563	124817	124817			26847	protein-coding gene	gene with protein product			cyclin N-terminal domain containing	CNTD	NA	24891606	Standard	NM_173478	NM_173478	NA	Approved	FLJ40137	uc002ibm.4	Q8N815		ENST00000588527.1:c.-81+146G>T	17.37:g.40951182G>T		NA	Q658Q6|Q8NEP1	37		.	.	.	.	.	.	.	.	.	.	G	15.63	2.890450	0.52014	.	.	ENSG00000176563	ENST00000315066	.	.	.	5.04	5.04	0.67666	Cyclin-like (1);	0.254806	0.39146	N	0.001455	T	0.58552	0.2130	M	0.61703	1.905	0.80722	D	1	B	0.26876	0.162	B	0.18871	0.023	T	0.57219	-0.7849	9	0.37606	T	0.19	-2.1701	15.0029	0.71489	0.0:0.0:0.8574:0.1426	.	33	Q8N815	CNTD1_HUMAN	S	33	.	ENSP00000316647:A33S	A	+	1	0	CNTD1	38204708	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	4.244000	0.58728	2.629000	0.89072	0.655000	0.94253	GCC	CNTD1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000452402.1		+	ENST00000588527.1	Intron	SNP	17 : 40951182 - 40951182 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	250	50
MMP21	118856	broad.mit.edu	37	10	127456127	127456127	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127456127A>G	ENST00000368808.3	-	6	1383	c.1384T>C	c.(1384-1386)Tta>Cta	p.L462L		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	462	Hemopexin-like 3.				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AAGTAAATTAACTTCTGTCTT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	111	112			NA	NA	10		NA											NA				127456127		2203	4300	6503	SO:0001819	synonymous_variant			AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485	118856	118856			14357	protein-coding gene	gene with protein product		608416	matrix metalloproteinase 21		NA	11255011	Standard		NM_147191	NA	Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.1384T>C	10.37:g.127456127A>G		NA	Q5VZP9|Q8NG02	37	CCDS7647.1																																																																																			MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050928.1		-	ENST00000368808.3	Silent	SNP	10 : 127456127 - 127456127 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	80
KIAA0141	9812	broad.mit.edu	37	5	141304986	141304986	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141304986A>G	ENST00000432126.2	+	3	292	c.158A>G	c.(157-159)cAt>cGt	p.H53R	KIAA0141_ENST00000194118.4_Missense_Mutation_p.H53R	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	53					apoptosis|regulation of caspase activity	mitochondrion	protein binding			endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGGTCCCCATGGCCCAGGC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	82	89			NA	NA	5		NA											NA				141304986		2203	4300	6503	SO:0001583	missense			BC011269	CCDS4268.1	5q31	2011-05-05			ENSG00000081791	ENSG00000081791	9812	9812			28969	protein-coding gene	gene with protein product	death ligand signal enhancer	615741			NA	20563667	Standard	NM_014773	XM_005268549	NA	Approved	DELE	uc003llt.3	Q14154	OTTHUMG00000129662	ENST00000432126.2:c.158A>G	5.37:g.141304986A>G	ENSP00000396225:p.His53Arg	NA	Q969R4|Q96EU9	37	CCDS4268.1	.	.	.	.	.	.	.	.	.	.	A	13.91	2.378680	0.42207	.	.	ENSG00000081791	ENST00000432126;ENST00000194118;ENST00000508751	T;T;T	0.18338	2.71;2.71;2.22	4.85	-0.695	0.11291	.	0.672812	0.13581	N	0.377363	T	0.14700	0.0355	M	0.64997	1.995	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27571	-1.0070	10	0.62326	D	0.03	-0.4811	3.2757	0.06897	0.5377:0.0:0.2902:0.1721	.	53	Q14154	DELE_HUMAN	R	53	ENSP00000396225:H53R;ENSP00000194118:H53R;ENSP00000422686:H53R	ENSP00000194118:H53R	H	+	2	0	KIAA0141	141285170	0.001000	0.12720	0.160000	0.22671	0.498000	0.33706	0.678000	0.25277	-0.030000	0.13804	0.374000	0.22700	CAT	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251863.2		+	ENST00000432126.2	Missense_Mutation	SNP	5 : 141304986 - 141304986 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	365	65
ZBTB9	221504	broad.mit.edu	37	6	33423403	33423403	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33423403T>G	ENST00000395064.2	+	2	794	c.526T>G	c.(526-528)Ttc>Gtc	p.F176V		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						CTCTTCGCCTTTCCAGACCCC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	95	93			NA	NA	6		NA											NA				33423403		2203	4300	6503	SO:0001583	missense			AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588	221504	221504		-, BTB/POZ domain containing, Zinc fingers, C2H2-type	28323	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152735	NM_152735	NA	Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.526T>G	6.37:g.33423403T>G	ENSP00000378503:p.Phe176Val	NA		37	CCDS4780.1	.	.	.	.	.	.	.	.	.	.	T	6.850	0.526113	0.13066	.	.	ENSG00000213588	ENST00000395064	T	0.05580	3.42	4.88	3.67	0.42095	.	0.657953	0.11979	U	0.510993	T	0.01835	0.0058	L	0.29908	0.895	0.28623	N	0.908056	B	0.23650	0.089	B	0.21546	0.035	T	0.43097	-0.9412	10	0.28530	T	0.3	.	9.0034	0.36097	0.0:0.0911:0.0:0.9089	.	176	Q96C00	ZBTB9_HUMAN	V	176	ENSP00000378503:F176V	ENSP00000378503:F176V	F	+	1	0	ZBTB9	33531381	0.970000	0.33590	1.000000	0.80357	0.920000	0.55202	0.733000	0.26087	2.051000	0.60960	0.460000	0.39030	TTC	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276533.1		+	ENST00000395064.2	Missense_Mutation	SNP	6 : 33423403 - 33423403 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	657	16
BARD1	580	broad.mit.edu	37	2	215610503	215610503	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215610503G>T	ENST00000260947.4	-	8	1887	c.1753C>A	c.(1753-1755)Ctc>Atc	p.L585I	BARD1_ENST00000449967.2_Missense_Mutation_p.L441I	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	585	BRCT 1.				cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGCTCACTGAGCATTTTCTGT	0.403		NA							Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	165	165			NA	NA	2		NA											NA				215610503		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376	580	580		Ankyrin repeat domain containing	952	protein-coding gene	gene with protein product		601593			NA	8944023, 9425226, 15159397	Standard	NM_000465	NM_001282548	NA	Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.1753C>A	2.37:g.215610503G>T	ENSP00000260947:p.Leu585Ile	NA	O43574|Q53SS5	37	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.418594	0.62622	.	.	ENSG00000138376	ENST00000260947;ENST00000449967;ENST00000421162	D;D;D	0.83075	-1.68;-1.68;-1.68	5.2	5.2	0.72013	BRCT (4);	0.000000	0.64402	D	0.000002	D	0.87597	0.6217	L	0.39397	1.21	0.47949	D	0.99955	D;P	0.61697	0.99;0.953	D;D	0.71870	0.975;0.958	D	0.86382	0.1730	10	0.38643	T	0.18	-5.8897	19.0931	0.93235	0.0:0.0:1.0:0.0	.	441;585	E7EUI3;Q99728	.;BARD1_HUMAN	I	585;441;134	ENSP00000260947:L585I;ENSP00000406752:L441I;ENSP00000392245:L134I	ENSP00000260947:L585I	L	-	1	0	BARD1	215318748	1.000000	0.71417	0.997000	0.53966	0.419000	0.31324	6.474000	0.73578	2.576000	0.86940	0.561000	0.74099	CTC	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256602.1		-	ENST00000260947.4	Missense_Mutation	SNP	2 : 215610503 - 215610503 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	962	161
TCTEX1D1	200132	broad.mit.edu	37	1	67236111	67236111	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67236111G>A	ENST00000282670.2	+	3	289	c.161G>A	c.(160-162)cGt>cAt	p.R54H	TCTEX1D1_ENST00000491611.1_3'UTR	NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	54										large_intestine(2)|lung(10)|skin(1)	13						CCCAGTCAGCGTGATGATATC	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	0,4406		0,0,2203	192	187	189		161	-10.6	0	1		189	1,8599	1.2+/-3.3	0,1,4299	no	missense	TCTEX1D1	NM_152665.2	29	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	54/180	67236111	1,13005	2203	4300	6503	SO:0001583	missense			AK098192	CCDS633.1	1p31.2	2008-02-05			ENSG00000152760	ENSG00000152760	200132	200132			26882	protein-coding gene	gene with protein product					NA		Standard	NM_152665	NM_152665	NA	Approved	FLJ40873	uc001dcv.3	Q8N7M0	OTTHUMG00000009162	ENST00000282670.2:c.161G>A	1.37:g.67236111G>A	ENSP00000282670:p.Arg54His	NA	Q06YR9|Q5VYE1	37	CCDS633.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.570248	0.28003	0.0	1.16E-4	ENSG00000152760	ENST00000282670	T	0.14516	2.5	6.06	-10.6	0.00265	.	0.742522	0.13351	N	0.394416	T	0.01940	0.0061	N	0.24115	0.695	0.18873	N	0.999985	B	0.09022	0.002	B	0.04013	0.001	T	0.40997	-0.9533	10	0.28530	T	0.3	-21.7112	11.5878	0.50929	0.5997:0.2418:0.1585:0.0	.	54	Q8N7M0	TC1D1_HUMAN	H	54	ENSP00000282670:R54H	ENSP00000282670:R54H	R	+	2	0	TCTEX1D1	67008699	0.000000	0.05858	0.000000	0.03702	0.138000	0.21146	-0.489000	0.06490	-1.795000	0.01255	-0.182000	0.12963	CGT	TCTEX1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025399.2		+	ENST00000282670.2	Missense_Mutation	SNP	1 : 67236111 - 67236111 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	715	163
LHFPL5	222662	broad.mit.edu	37	6	35782423	35782423	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35782423C>T	ENST00000373853.1	+	2	891	c.513C>T	c.(511-513)ggC>ggT	p.G171G	LHFPL5_ENST00000496656.1_3'UTR|LHFPL5_ENST00000360215.1_Silent_p.G171G			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	171						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						ACACGCTGGGCCACTGCACCA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	111	135			NA	NA	6		NA											NA				35782423		2203	4300	6503	SO:0001819	synonymous_variant			BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753	222662	222662			21253	protein-coding gene	gene with protein product		609427	deafness, autosomal recessive 67	DFNB67	NA	16459341	Standard	NM_182548	NM_182548	NA	Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.513C>T	6.37:g.35782423C>T		NA		37	CCDS4812.1																																																																																			LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040323.1		+	ENST00000373853.1	Silent	SNP	6 : 35782423 - 35782423 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	397	63
HOXC11	3227	broad.mit.edu	37	12	54367428	54367428	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54367428G>A	ENST00000243082.4	+	1	517	c.403G>A	c.(403-405)Gcc>Acc	p.A135T	HOXC11_ENST00000546378.1_Missense_Mutation_p.A135T|HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA	NM_014212.3	NP_055027.1	O43248	HXC11_HUMAN	homeobox C11	135					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						CGCAACCCCCGCCGGCTTCTA	0.657		NA	T	NUP98	AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		12	12q13.3	3227	homeo box C11		L	0													72	93	86			NA	NA	12		NA											NA				54367428		2203	4300	6503	SO:0001583	missense				CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388	3227	3227		Homeoboxes / ANTP class : HOXL subclass	5123	protein-coding gene	gene with protein product		605559	homeo box C11	HOX3H	NA	1973146, 1358459	Standard		NM_014212	NA	Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000243082.4:c.403G>A	12.37:g.54367428G>A	ENSP00000243082:p.Ala135Thr	NA	A8K7D1|Q96DH2	37		.	.	.	.	.	.	.	.	.	.	G	9.463	1.093691	0.20471	.	.	ENSG00000123388	ENST00000546378;ENST00000243082	T;T	0.42900	0.96;0.96	3.78	3.78	0.43462	Domain of unknown function DUF3528, homeobox protein, eukaryotic (1);	0.166295	0.56097	D	0.000031	T	0.14527	0.0351	N	0.01464	-0.85	0.34893	D	0.745777	B	0.14012	0.009	B	0.12156	0.007	T	0.11792	-1.0573	10	0.30078	T	0.28	.	5.8294	0.18572	0.2113:0.0:0.7887:0.0	.	135	O43248	HXC11_HUMAN	T	135	ENSP00000446680:A135T;ENSP00000243082:A135T	ENSP00000243082:A135T	A	+	1	0	HOXC11	52653695	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	2.622000	0.46427	2.386000	0.81285	0.555000	0.69702	GCC	HOXC11-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000407429.2		+	ENST00000243082.4	Missense_Mutation	SNP	12 : 54367428 - 54367428 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1389	51
CARHSP1	23589	broad.mit.edu	37	16	8953039	8953039	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8953039C>T	ENST00000396593.2	-	2	506	c.147G>A	c.(145-147)agG>agA	p.R49R	RP11-77H9.2_ENST00000565934.1_RNA|CARHSP1_ENST00000311052.5_Silent_p.R49R|CARHSP1_ENST00000561530.1_Silent_p.R49R|CARHSP1_ENST00000562843.1_Silent_p.R49R|CARHSP1_ENST00000567554.1_Silent_p.R49R	NM_001042476.1|NM_001278260.1|NM_001278261.1|NM_001278262.1|NM_001278263.1|NM_001278264.1|NM_001278265.1|NM_001278266.1|NM_014316.3	NP_001035941.1|NP_001265189.1|NP_001265190.1|NP_001265191.1|NP_001265192.1|NP_001265193.1|NP_001265194.1|NP_001265195.1|NP_055131.2	Q9Y2V2	CHSP1_HUMAN	calcium regulated heat stable protein 1, 24kDa	49					intracellular signal transduction|regulation of mRNA stability|regulation of transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|P granule	DNA binding|mRNA 3'-UTR binding|phosphatase binding			endometrium(2)|lung(1)	3						CCGAGAAGGTCCTCGTCCGGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	23	24			NA	NA	16		NA											NA				8953039		2196	4300	6496	SO:0001819	synonymous_variant			AF115345	CCDS10537.1	16p13.2	2008-02-05	2002-08-29		ENSG00000153048	ENSG00000153048	23589	23589			17150	protein-coding gene	gene with protein product			calcium regulated heat stable protein 1 (24kD)		NA	9712905	Standard	NM_014316	NM_014316	NA	Approved	CRHSP-24, CSDC1	uc031quz.1	Q9Y2V2	OTTHUMG00000129695	ENST00000396593.2:c.147G>A	16.37:g.8953039C>T		NA	B2R4C3|D3DUF5|Q2YDX5|Q9BQ53	37	CCDS10537.1																																																																																			CARHSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251902.1		-	ENST00000396593.2	Silent	SNP	16 : 8953039 - 8953039 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	129	19
UNC5D	137970	broad.mit.edu	37	8	35425705	35425705	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:35425705G>A	ENST00000287272.2	+	3	432	c.412G>A	c.(412-414)Gcg>Acg	p.A138T	UNC5D_ENST00000453357.2_Missense_Mutation_p.A133T|UNC5D_ENST00000420357.1_Missense_Mutation_p.A138T|UNC5D_ENST00000416672.1_Missense_Mutation_p.A138T|UNC5D_ENST00000404895.2_Missense_Mutation_p.A138T			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	138	Ig-like.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCAGTGTGTGGCGTGGAGCCA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	140	141			NA	NA	8		NA											NA				35425705		2203	4300	6503	SO:0001583	missense			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687	137970	137970		Immunoglobulin superfamily / I-set domain containing	18634	protein-coding gene	gene with protein product					NA	18402767	Standard		NM_080872	NA	Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000287272.2:c.412G>A	8.37:g.35425705G>A	ENSP00000287272:p.Ala138Thr	NA	Q8WYP7	37		.	.	.	.	.	.	.	.	.	.	G	35	5.432833	0.96150	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53	5.22	5.22	0.72569	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79505	0.4457	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.84579	0.0660	10	0.87932	D	0	-14.5974	18.7938	0.91985	0.0:0.0:1.0:0.0	.	133;138	Q6UXZ4-2;Q6UXZ4	.;UNC5D_HUMAN	T	138;138;138;138;133	ENSP00000385143:A138T;ENSP00000392739:A138T;ENSP00000287272:A138T;ENSP00000412652:A138T;ENSP00000394303:A133T	ENSP00000287272:A138T	A	+	1	0	UNC5D	35545247	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	9.830000	0.99415	2.443000	0.82685	0.655000	0.94253	GCG	UNC5D-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000347597.1		+	ENST00000287272.2	Missense_Mutation	SNP	8 : 35425705 - 35425705 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	694	113
PROM2	150696	broad.mit.edu	37	2	95944794	95944794	+	Silent	SNP	G	G	A	rs149982705	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95944794G>A	ENST00000317620.9	+	10	1309	c.1176G>A	c.(1174-1176)ccG>ccA	p.P392P	PROM2_ENST00000542147.1_Silent_p.P392P|PROM2_ENST00000403131.2_Silent_p.P392P|PROM2_ENST00000317668.4_Silent_p.P392P	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	392						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AAGGGTTCCCGGGCTTGGAGG	0.642		NA											G	11	0.01	0.02	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.005	1	LOWCOV,EXOME	NA	NA	0.0011	SNP								NA				0								G	,,	53,4353	47.5+/-82.1	0,53,2150	32	35	34		1176,1176,1176	-7.3	0	2	dbSNP_134	34	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	PROM2	NM_001165977.1,NM_001165978.1,NM_144707.2	,,	0,54,6449	AA,AG,GG	NA	0.0116,1.2029,0.4152	,,	392/835,392/835,392/835	95944794	54,12952	2203	4300	6503	SO:0001819	synonymous_variant			AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066	150696	150696			20685	protein-coding gene	gene with protein product					NA	12514187	Standard	NM_144707	NM_001165978	NA	Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1176G>A	2.37:g.95944794G>A		NA	A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	37	CCDS2012.1																																																																																			PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252771.1		+	ENST00000317620.9	Silent	SNP	2 : 95944794 - 95944794 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	339	75
TNFSF9	8744	broad.mit.edu	37	19	6534897	6534897	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6534897G>A	ENST00000245817.3	+	3	623	c.585G>A	c.(583-585)tcG>tcA	p.S195S		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	195					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						CTCGGAACTCGGCCTTCGGTT	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	17	16			NA	NA	19		NA											NA				6534897		2186	4283	6469	SO:0001819	synonymous_variant			U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657	8744	8744		Tumor necrosis factor (ligand) superfamily	11939	protein-coding gene	gene with protein product	receptor 4-1BB ligand, homolog of mouse 4-1BB-L	606182			NA	8405064, 8088337	Standard	NM_003811	NM_003811	NA	Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.585G>A	19.37:g.6534897G>A		NA	Q2M3S2	37	CCDS12169.1																																																																																			TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457856.1		+	ENST00000245817.3	Silent	SNP	19 : 6534897 - 6534897 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	141	44
TM9SF1	10548	broad.mit.edu	37	14	24679614	24679614	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24679614C>A	ENST00000530611.1	-	5	583	c.550G>T	c.(550-552)Gaa>Taa	p.E184*	CHMP4A_ENST00000347519.6_Nonsense_Mutation_p.E227*|CHMP4A_ENST00000542700.2_5'UTR|TM9SF1_ENST00000556387.1_Nonsense_Mutation_p.E184*|AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000530996.1_Nonsense_Mutation_p.E79*|CHMP4A_ENST00000609024.1_Nonsense_Mutation_p.E184*			O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	0					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		GGTTCTTCTTCCTTGTCGCCC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													199	208	205			NA	NA	14		NA											NA				24679614		2203	4300	6503	SO:0001587	stop_gained			U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926	10548	10548			11864	protein-coding gene	gene with protein product					NA	9332367	Standard	NM_006405	NM_006405	NA	Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000530611.1:c.550G>T	14.37:g.24679614C>A	ENSP00000433967:p.Glu184*	NA	D3DS65|Q96FI8	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.88|16.88	3.245092|3.245092	0.59103|0.59103	.|.	.|.	ENSG00000100926;ENSG00000254692;ENSG00000254505;ENSG00000254505|ENSG00000254505	ENST00000556387;ENST00000530611;ENST00000347519;ENST00000533011|ENST00000548308	.|.	.|.	.|.	5.46|5.46	3.62|3.62	0.41486|0.41486	.|.	0.313069|.	0.22848|.	N|.	0.054881|.	.|T	.|0.50360	.|0.1611	.|.	.|.	.|.	0.58432|0.58432	A|A	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.59658	.|-0.7413	.|3	0.09590|.	T|.	0.72|.	-7.7942|-7.7942	8.6606|8.6606	0.34091|0.34091	0.0:0.8202:0.0:0.1798|0.0:0.8202:0.0:0.1798	.|.	.|.	.|.	.|.	X|V	184;184;227;194|166	.|.	ENSP00000324205:E227X|.	E|G	-|-	1|2	0|0	TM9SF1;AL096870.1;RP11-468E2.1|AL096870.1	23749454|23749454	0.017000|0.017000	0.18338|0.18338	0.983000|0.983000	0.44433|0.44433	0.596000|0.596000	0.36781|0.36781	1.319000|1.319000	0.33655|0.33655	1.298000|1.298000	0.44778|0.44778	0.561000|0.561000	0.74099|0.74099	GAA|GGA	TM9SF1-001	PUTATIVE	basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000392565.1		-	ENST00000530611.1	Nonsense_Mutation	SNP	14 : 24679614 - 24679614 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	932	30
ZNF775	285971	broad.mit.edu	37	7	150094613	150094613	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150094613G>T	ENST00000329630.5	+	3	1151	c.1044G>T	c.(1042-1044)caG>caT	p.Q348H		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTTCCGCCAGAAGCAGCACC	0.741		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													4	5	5			NA	NA	7		NA											NA				150094613		1879	3801	5680	SO:0001583	missense			BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456	285971	285971		Zinc fingers, C2H2-type	28501	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_173680	NM_173680	NA	Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.1044G>T	7.37:g.150094613G>T	ENSP00000330838:p.Gln348His	NA	Q8IY24	37	CCDS43678.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.306995	0.60305	.	.	ENSG00000196456	ENST00000329630	T	0.15487	2.42	3.78	3.78	0.43462	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19565	0.0470	N	0.21142	0.635	0.29595	N	0.848147	P	0.47604	0.898	P	0.57204	0.815	T	0.03566	-1.1024	8	.	.	.	.	7.0796	0.25223	0.1239:0.0:0.8761:0.0	.	348	Q96BV0	ZN775_HUMAN	H	348	ENSP00000330838:Q348H	.	Q	+	3	2	ZNF775	149725546	0.000000	0.05858	1.000000	0.80357	0.865000	0.49528	0.056000	0.14256	1.931000	0.55961	0.313000	0.20887	CAG	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350679.1		+	ENST00000329630.5	Missense_Mutation	SNP	7 : 150094613 - 150094613 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	56	9
TMPRSS3	64699	broad.mit.edu	37	21	43796726	43796726	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43796726C>A	ENST00000291532.3	-	11	2073	c.1118G>T	c.(1117-1119)aGg>aTg	p.R373M	TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.R457M|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.R370M|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.R372M	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	373	Peptidase S1.			ICNHRDVYGGIISPSMLCAGYLTGGVD -> DLQPQGRVRW HHLPLHALRGLPDGWRWN (in Ref. 1; AAG37012).	cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GTACACGTCCCTGTGGTTGCA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													185	165	172			NA	NA	21		NA											NA				43796726		2203	4300	6503	SO:0001583	missense			AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183	64699	64699		Serine peptidases / Transmembrane	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8	NA	11462234, 11907649	Standard		NM_032405	NA	Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.1118G>T	21.37:g.43796726C>A	ENSP00000291532:p.Arg373Met	NA	D3DSJ6|Q6ZMC3	37	CCDS13686.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.720711	0.68959	.	.	ENSG00000160183	ENST00000291532;ENST00000433957;ENST00000398405;ENST00000380399	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	4.94	3.84	0.44239	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.135322	0.48286	D	0.000181	D	0.88228	0.6380	L	0.39085	1.19	0.28890	N	0.893885	P;P;D	0.55800	0.928;0.916;0.973	P;P;P	0.56960	0.667;0.726;0.81	T	0.82323	-0.0514	9	.	.	.	.	10.8134	0.46559	0.0:0.8328:0.0:0.1672	.	372;373;370	P57727-5;P57727;B7WPR2	.;TMPS3_HUMAN;.	M	373;372;370;457	ENSP00000291532:R373M;ENSP00000411013:R372M;ENSP00000381442:R370M;ENSP00000369762:R457M	.	R	-	2	0	TMPRSS3	42669795	0.972000	0.33761	1.000000	0.80357	0.953000	0.61014	2.005000	0.40864	2.269000	0.75478	0.591000	0.81541	AGG	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195347.1		-	ENST00000291532.3	Missense_Mutation	SNP	21 : 43796726 - 43796726 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1121	247
CTPS1	1503	broad.mit.edu	37	1	41474522	41474522	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41474522A>C	ENST00000372621.4	+	16	2014	c.1506A>C	c.(1504-1506)caA>caC	p.Q502H	CTPS1_ENST00000372616.1_Missense_Mutation_p.Q502H|CTPS1_ENST00000541520.1_Missense_Mutation_p.Q271H	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN	CTP synthase 1	502	Glutamine amidotransferase type-1.				CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding			endometrium(3)|lung(10)	13					L-Glutamine(DB00130)	TTGTTGGCCAAGATGTTGAAG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	137	137			NA	NA	1		NA											NA				41474522		2203	4300	6503	SO:0001583	missense			BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	1503	1503	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	CTP synthase	CTPS	NA	1783378	Standard	NM_001905	XM_005270536	NA	Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.1506A>C	1.37:g.41474522A>C	ENSP00000361704:p.Gln502His	NA	D3DPW1|Q5VW67|Q96GK6	37	CCDS459.1	.	.	.	.	.	.	.	.	.	.	A	12.06	1.823330	0.32237	.	.	ENSG00000171793	ENST00000372621;ENST00000541520;ENST00000372616	D;D;D	0.89485	-2.52;-2.52;-2.52	5.08	-0.101	0.13618	Glutamine amidotransferase type 1 (2);	0.108809	0.64402	D	0.000004	T	0.74801	0.3764	N	0.12853	0.265	0.51482	D	0.999922	B	0.06786	0.001	B	0.08055	0.003	T	0.57219	-0.7849	10	0.27082	T	0.32	.	9.0008	0.36081	0.5741:0.0:0.4259:0.0	.	502	P17812	PYRG1_HUMAN	H	502;271;502	ENSP00000361704:Q502H;ENSP00000442646:Q271H;ENSP00000361699:Q502H	ENSP00000361699:Q502H	Q	+	3	2	CTPS	41247109	0.998000	0.40836	0.997000	0.53966	0.988000	0.76386	0.465000	0.22004	-0.209000	0.10156	-0.290000	0.09829	CAA	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000015629.1		+	ENST00000372621.4	Missense_Mutation	SNP	1 : 41474522 - 41474522 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	757	168
SCGN	10590	broad.mit.edu	37	6	25670258	25670258	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25670258A>T	ENST00000377961.2	+	6	593	c.425A>T	c.(424-426)aAa>aTa	p.K142I	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	142						extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CTTCACCACAAAAAGGCCATT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	161	159			NA	NA	6		NA											NA				25670258		2203	4300	6503	SO:0001583	missense			BC000336	CCDS4561.1	6p22.3-p22.1	2013-01-10			ENSG00000079689	ENSG00000079689	10590	10590		EF-hand domain containing	16941	protein-coding gene	gene with protein product	calbindin-like	609202			NA	10811645	Standard		NM_006998	NA	Approved	SECRET, DJ501N12.8, SEGN, CALBL	uc003nfb.3	O76038	OTTHUMG00000014409	ENST00000377961.2:c.425A>T	6.37:g.25670258A>T	ENSP00000367197:p.Lys142Ile	NA	A8K0B2|Q5VV44|Q96QV7|Q9UJF6	37	CCDS4561.1	.	.	.	.	.	.	.	.	.	.	A	13.37	2.218045	0.39201	.	.	ENSG00000079689	ENST00000377961	T	0.10382	2.88	5.6	1.81	0.25067	EF-hand-like domain (1);	0.407309	0.30859	N	0.008740	T	0.09423	0.0232	M	0.84585	2.705	0.44643	D	0.997626	B	0.23249	0.082	B	0.32022	0.139	T	0.02404	-1.1164	10	0.66056	D	0.02	.	11.0391	0.47820	0.7965:0.0:0.2035:0.0	.	142	O76038	SEGN_HUMAN	I	142	ENSP00000367197:K142I	ENSP00000367197:K142I	K	+	2	0	SCGN	25778237	0.009000	0.17119	0.185000	0.23176	0.961000	0.63080	1.379000	0.34340	-0.163000	0.10946	-1.450000	0.01041	AAA	SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040067.1		+	ENST00000377961.2	Missense_Mutation	SNP	6 : 25670258 - 25670258 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	810	155
MYLK2	85366	broad.mit.edu	37	20	30418685	30418685	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30418685G>T	ENST00000375994.2	+	8	1561	c.1288G>T	c.(1288-1290)Gca>Tca	p.A430S	MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Missense_Mutation_p.A430S			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	430	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTTTGGCCTGGCACGGAGGTA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	113	114			NA	NA	20		NA											NA				30418685		2203	4300	6503	SO:0001583	missense			AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	85366	85366	2.7.11.18		16243	protein-coding gene	gene with protein product	skeletal muscle myosin light chain kinase	606566	myosin light chain kinase 2, skeletal muscle		NA		Standard	NM_033118	NM_033118	NA	Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.1288G>T	20.37:g.30418685G>T	ENSP00000365162:p.Ala430Ser	NA	Q569L1|Q96I84	37	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367341	0.82463	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.72167	-0.63;-0.63	3.76	3.76	0.43208	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.73210	0.3558	L	0.31065	0.9	0.58432	D	0.999995	P	0.46327	0.876	P	0.58970	0.849	T	0.75235	-0.3389	9	0.49607	T	0.09	.	15.0927	0.72207	0.0:0.0:1.0:0.0	.	430	Q9H1R3	MYLK2_HUMAN	S	430	ENSP00000365162:A430S;ENSP00000365152:A430S	ENSP00000365152:A430S	A	+	1	0	MYLK2	29882346	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.490000	0.97952	2.063000	0.61619	0.561000	0.74099	GCA	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078583.2		+	ENST00000375994.2	Missense_Mutation	SNP	20 : 30418685 - 30418685 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1012	175
ANAPC1	64682	broad.mit.edu	37	2	112601003	112601003	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112601003C>T	ENST00000341068.3	-	17	2798	c.2026G>A	c.(2026-2028)Gca>Aca	p.A676T		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	676					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CTAGTCCATGCTAAGCGGTCT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	121	124			NA	NA	2		NA											NA				112601003		2202	4300	6502	SO:0001583	missense			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107	64682	64682		Anaphase promoting complex subunits	19988	protein-coding gene	gene with protein product		608473			NA	11179667	Standard	NM_022662	NM_022662	NA	Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.2026G>A	2.37:g.112601003C>T	ENSP00000339109:p.Ala676Thr	NA	Q2M3H8|Q9BSE6|Q9H8D0	37	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	6.884|6.884	0.532519|0.532519	0.13127|0.13127	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	T|.	0.48201|.	0.82|.	4.51|4.51	3.63|3.63	0.41609|0.41609	.|.	0.375961|.	0.17661|.	N|.	0.166306|.	T|T	0.26340|0.26340	0.0643|0.0643	N|N	0.17631|0.17631	0.505|0.505	0.30186|0.30186	N|N	0.79999|0.79999	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.21518|0.21518	-1.0243|-1.0243	10|5	0.13853|.	T|.	0.58|.	-8.0213|-8.0213	4.8761|4.8761	0.13656|0.13656	0.2894:0.5447:0.0:0.1659|0.2894:0.5447:0.0:0.1659	.|.	676|.	Q9H1A4|.	APC1_HUMAN|.	T|N	676|210	ENSP00000339109:A676T|.	ENSP00000339109:A676T|.	A|S	-|-	1|2	0|0	ANAPC1|ANAPC1	112317474|112317474	0.983000|0.983000	0.35010|0.35010	0.999000|0.999000	0.59377|0.59377	0.941000|0.941000	0.58515|0.58515	0.399000|0.399000	0.20916|0.20916	0.875000|0.875000	0.35847|0.35847	0.446000|0.446000	0.29264|0.29264	GCA|AGC	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254045.2		-	ENST00000341068.3	Missense_Mutation	SNP	2 : 112601003 - 112601003 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	297	57
TFG	10342	broad.mit.edu	37	3	100447675	100447675	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100447675G>T	ENST00000240851.4	+	4	728	c.388G>T	c.(388-390)Gga>Tga	p.G130*	TFG_ENST00000490574.1_Nonsense_Mutation_p.G130*|TFG_ENST00000418917.2_Nonsense_Mutation_p.G130*|TFG_ENST00000476228.1_Nonsense_Mutation_p.G130*	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	130					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						TGGAGAACCAGGACCTTCCAC	0.373		NA	T	NTRK1, ALK	papillary thyroid, ALCL, NSCLC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		3	3q11-q12	10342	TRK-fused gene		E, L	0													94	99	98			NA	NA	3		NA											NA				100447675		2203	4300	6503	SO:0001587	stop_gained			BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354	10342	10342			11758	protein-coding gene	gene with protein product		602498			NA	9169129, 23479643	Standard	NM_006070	NM_001007565	NA	Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.388G>T	3.37:g.100447675G>T	ENSP00000240851:p.Gly130*	NA	D3DN49|Q15656|Q969I2	37	CCDS2939.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505062	0.85282	.	.	ENSG00000114354	ENST00000418917;ENST00000490574;ENST00000240851;ENST00000476228;ENST00000443578;ENST00000463568;ENST00000487505	.	.	.	5.14	5.14	0.70334	.	0.047579	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-9.7445	18.9749	0.92731	0.0:0.0:1.0:0.0	.	.	.	.	X	130	.	ENSP00000240851:G130X	G	+	1	0	TFG	101930365	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	9.133000	0.94460	2.527000	0.85204	0.655000	0.94253	GGA	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353242.1		+	ENST00000240851.4	Nonsense_Mutation	SNP	3 : 100447675 - 100447675 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	555	102
LILRA6	79168	broad.mit.edu	37	19	54745706	54745706	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54745706G>A	ENST00000396365.2	-	4	443	c.404C>T	c.(403-405)gCc>gTc	p.A135V	LILRA6_ENST00000270464.5_Missense_Mutation_p.A135V|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.A135V|LILRA6_ENST00000440558.2_Missense_Mutation_p.A135V|LILRA6_ENST00000391735.3_Missense_Mutation_p.A135V|LILRA6_ENST00000245621.5_Missense_Mutation_p.A135V	NM_024318.2	NP_077294			leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	NA										central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCCCCCTGAGGCCACCACAGG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	71	61			NA	NA	19		NA											NA				54745706		2126	4294	6420	SO:0001583	missense			AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482	79168	79168		Leukocyte immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	15495	protein-coding gene	gene with protein product			leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6	LILRB6	NA	10941842	Standard	NM_024318	NM_024318	NA	Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.404C>T	19.37:g.54745706G>A	ENSP00000379651:p.Ala135Val	NA		37	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.951506	0.34471	.	.	ENSG00000244482	ENST00000440558;ENST00000270464;ENST00000419410;ENST00000391735;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T;T;T;T	0.12465	2.68;2.68;2.68;4.09;2.68;2.68	3.4	2.34	0.29019	Immunoglobulin-like fold (1);	1.765360	0.02642	N	0.105493	T	0.35335	0.0928	M	0.72353	2.195	0.09310	N	1	B;B;P;P;P;P	0.51791	0.413;0.354;0.803;0.617;0.796;0.948	B;B;P;B;P;D	0.63192	0.352;0.26;0.472;0.255;0.471;0.912	T	0.02877	-1.1099	10	0.59425	D	0.04	.	6.8117	0.23809	0.1364:0.0:0.8636:0.0	.	135;135;135;135;135;135	C9JFH3;Q6PI73-2;Q6PI73;F8WCY4;D3YTC4;F8W6G6	.;.;LIRA6_HUMAN;.;.;.	V	135	ENSP00000390120:A135V;ENSP00000270464:A135V;ENSP00000411227:A135V;ENSP00000375615:A135V;ENSP00000379651:A135V;ENSP00000245621:A135V	ENSP00000245621:A135V	A	-	2	0	LILRA6	59437518	0.024000	0.19004	0.052000	0.19188	0.049000	0.14656	2.509000	0.45459	0.789000	0.33779	0.184000	0.17185	GCC	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313725.1		-	ENST00000396365.2	Missense_Mutation	SNP	19 : 54745706 - 54745706 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1359	104
CORIN	10699	broad.mit.edu	37	4	47645169	47645169	+	Missense_Mutation	SNP	C	C	A	rs143147998		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47645169C>A	ENST00000273857.4	-	15	2061	c.2062G>T	c.(2062-2064)Gac>Tac	p.D688Y	CORIN_ENST00000508498.1_Missense_Mutation_p.D549Y|CORIN_ENST00000502252.1_Missense_Mutation_p.D621Y|CORIN_ENST00000504584.1_Missense_Mutation_p.D651Y|CORIN_ENST00000505909.1_Missense_Mutation_p.D651Y	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	688	LDL-receptor class A 7.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TCACCACAGTCCCATTCATCT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TYR/ASP	3,4403	6.2+/-15.9	0,3,2200	200	143	163		2062	3.5	1	4	dbSNP_134	163	0,8600		0,0,4300	no	missense	CORIN	NM_006587.2	160	0,3,6500	AA,AC,CC	NA	0.0,0.0681,0.0231	probably-damaging	688/1043	47645169	3,13003	2203	4300	6503	SO:0001583	missense			AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244	10699	10699		Serine peptidases / Transmembrane	19012	protein-coding gene	gene with protein product		605236	corin, serine protease		NA	10329693	Standard		NM_006587	NA	Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.2062G>T	4.37:g.47645169C>A	ENSP00000273857:p.Asp688Tyr	NA	B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	37	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268349	0.59540	6.81E-4	0.0	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	D;D;D;D;D	0.96011	-3.88;-3.88;-3.88;-3.88;-3.88	6.17	3.55	0.40652	Speract/scavenger receptor-related (1);Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.433392	0.26601	N	0.023478	D	0.96463	0.8846	M	0.67953	2.075	0.43808	D	0.996366	D;D;D	0.76494	0.989;0.992;0.999	P;P;D	0.71870	0.905;0.879;0.975	D	0.94733	0.7911	10	0.46703	T	0.11	.	9.3009	0.37845	0.0:0.7321:0.0:0.2679	.	651;621;688	B4E2W9;B4E1Y7;Q9Y5Q5	.;.;CORIN_HUMAN	Y	688;549;621;651;651	ENSP00000273857:D688Y;ENSP00000425597:D549Y;ENSP00000424212:D621Y;ENSP00000425401:D651Y;ENSP00000423216:D651Y	ENSP00000273857:D688Y	D	-	1	0	CORIN	47339926	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	1.339000	0.33885	0.492000	0.27815	0.655000	0.94253	GAC	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216906.2		-	ENST00000273857.4	Missense_Mutation	SNP	4 : 47645169 - 47645169 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	341	54
EXOC1	55763	broad.mit.edu	37	4	56770575	56770575	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56770575C>T	ENST00000381295.2	+	19	2947	c.2599C>T	c.(2599-2601)Cgc>Tgc	p.R867C	EXOC1_ENST00000346134.7_Missense_Mutation_p.R867C|EXOC1_ENST00000349598.6_Missense_Mutation_p.R852C	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	867					exocytosis|protein transport	exocyst	protein binding	p.R867C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TTTGATAGCTCGCTGTTATCC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	central_nervous_system(1)											193	179	184			NA	NA	4		NA											NA				56770575		2203	4300	6503	SO:0001583	missense			AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989	55763	55763			30380	protein-coding gene	gene with protein product		607879	SEC3-like 1 (S. cerevisiae)	SEC3L1	NA	11042152, 11406615	Standard	NM_018261	XM_005265747	NA	Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.2599C>T	4.37:g.56770575C>T	ENSP00000370695:p.Arg867Cys	NA	Q504V4|Q8WUE7|Q96T15|Q9NZE4	37	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927465	0.73327	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.26	5.26	0.73747	.	0.053203	0.64402	D	0.000001	T	0.76364	0.3977	M	0.72118	2.19	0.80722	D	1	D;D	0.76494	0.999;0.999	P;D	0.66716	0.87;0.946	T	0.79145	-0.1924	9	0.87932	D	0	.	13.7799	0.63077	0.1536:0.8464:0.0:0.0	.	852;867	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	C	867;867;852	.	ENSP00000326514:R867C	R	+	1	0	EXOC1	56465332	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.605000	0.61119	2.437000	0.82529	0.563000	0.77884	CGC	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361799.1		+	ENST00000381295.2	Missense_Mutation	SNP	4 : 56770575 - 56770575 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	563	102
PDE7B	27115	broad.mit.edu	37	6	136512832	136512832	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136512832C>A	ENST00000308191.6	+	13	1510	c.1207C>A	c.(1207-1209)Ctg>Atg	p.L403M	RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	403	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	GGAGAACATGCTGGGCCACCT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	46	49			NA	NA	6		NA											NA				136512832		2203	4300	6503	SO:0001583	missense			AB038040	CCDS5175.1	6q23-q24	2008-03-18			ENSG00000171408	ENSG00000171408	27115	27115	3.1.4.17	Phosphodiesterases	8792	protein-coding gene	gene with protein product		604645			NA	10618442	Standard		XM_005266931	NA	Approved		uc003qgp.3	Q9NP56	OTTHUMG00000015641	ENST00000308191.6:c.1207C>A	6.37:g.136512832C>A	ENSP00000310661:p.Leu403Met	NA	Q5W154	37	CCDS5175.1	.	.	.	.	.	.	.	.	.	.	C	8.880	0.951377	0.18431	.	.	ENSG00000171408	ENST00000308191;ENST00000367787	T	0.79247	-1.25	5.17	4.28	0.50868	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.136413	0.50627	D	0.000107	T	0.64713	0.2623	N	0.25094	0.71	0.50467	D	0.999878	P;P	0.50617	0.937;0.669	B;P	0.54238	0.335;0.746	T	0.64198	-0.6464	10	0.31617	T	0.26	.	10.5121	0.44868	0.0:0.8508:0.0:0.1492	.	455;403	A1E5M1;Q9NP56	.;PDE7B_HUMAN	M	403;539	ENSP00000310661:L403M	ENSP00000310661:L403M	L	+	1	2	PDE7B	136554525	1.000000	0.71417	0.998000	0.56505	0.398000	0.30690	0.687000	0.25407	2.569000	0.86673	0.655000	0.94253	CTG	PDE7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042371.1		+	ENST00000308191.6	Missense_Mutation	SNP	6 : 136512832 - 136512832 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	145	13
PRNP	5621	broad.mit.edu	37	20	4680520	4680520	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:4680520C>T	ENST00000379440.4	+	2	941	c.654C>T	c.(652-654)taC>taT	p.Y218Y	PRNP_ENST00000430350.2_Silent_p.Y218Y	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	P04156	PRIO_HUMAN	prion protein	218	Interaction with GRB2, ERI3 and SYN1 (By similarity).				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14					Tetracycline(DB00759)	TCACCCAGTACGAGAGGGAAT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,,,	0,4406		0,0,2203	136	117	123		654,654,654,654,654	3.7	0.9	20		123	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PRNP	NM_000311.3,NM_001080121.1,NM_001080122.1,NM_001080123.1,NM_183079.2	,,,,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,,,,	218/254,218/254,218/254,218/254,218/254	4680520	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			M13899	CCDS13080.1	20p13	2014-06-05	2008-07-28		ENSG00000171867	ENSG00000171867	5621	5621		CD molecules	9449	protein-coding gene	gene with protein product	Creutzfeldt-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia, p27-30	176640	prion protein (p27-30)	PRIP, GSS, CJD	NA		Standard	NM_000311	NM_000311	NA	Approved	CD230, PRP, AltPrP	uc002wkw.4	F7VJQ1	OTTHUMG00000031786	ENST00000379440.4:c.654C>T	20.37:g.4680520C>T		NA	O60489|P78446|Q15216|Q15221|Q27H91|Q5QPB4|Q8TBG0|Q96E70|Q9UP19	37	CCDS13080.1																																																																																			PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077820.2		+	ENST00000379440.4	Silent	SNP	20 : 4680520 - 4680520 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	256	47
PDLIM3	27295	broad.mit.edu	37	4	186425686	186425686	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186425686C>T	ENST00000284770.5	-	7	921	c.848G>A	c.(847-849)gGc>gAc	p.G283D	PDLIM3_ENST00000284771.6_Missense_Mutation_p.G235D|PDLIM3_ENST00000284767.5_3'UTR	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	283						sarcomere	zinc ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		GCCTGAACCGCCATGGACTTT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	58	61			NA	NA	4		NA											NA				186425686		2203	4300	6503	SO:0001583	missense			AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553	27295	27295			20767	protein-coding gene	gene with protein product		605889			NA	10063829, 8828038	Standard	NM_014476	NM_014476	NA	Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.848G>A	4.37:g.186425686C>T	ENSP00000284770:p.Gly283Asp	NA	B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	37	CCDS3844.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712702	0.48517	.	.	ENSG00000154553	ENST00000284770;ENST00000284771	T;T	0.36340	1.26;2.13	5.53	4.64	0.57946	.	0.243150	0.49305	D	0.000153	T	0.31670	0.0804	L	0.34521	1.04	0.80722	D	1	B;B	0.25486	0.127;0.078	B;B	0.31751	0.135;0.082	T	0.16958	-1.0385	10	0.72032	D	0.01	-12.4155	13.0657	0.59032	0.0:0.6237:0.3763:0.0	.	235;283	Q53GG5-2;Q53GG5	.;PDLI3_HUMAN	D	283;235	ENSP00000284770:G283D;ENSP00000284771:G235D	ENSP00000284770:G283D	G	-	2	0	PDLIM3	186662680	0.799000	0.28903	0.028000	0.17463	0.008000	0.06430	4.880000	0.63107	2.770000	0.95276	0.655000	0.94253	GGC	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360499.2		-	ENST00000284770.5	Missense_Mutation	SNP	4 : 186425686 - 186425686 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	220	34
ZRANB2	9406	broad.mit.edu	37	1	71536592	71536592	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:71536592G>A	ENST00000370920.3	-	7	902	c.601C>T	c.(601-603)Cga>Tga	p.R201*	ZRANB2_ENST00000254821.6_Nonsense_Mutation_p.R201*	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	201	Arg/Ser-rich.|Required for nuclear targeting.				mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						GAGCGACTTCGTCTATTAGAT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													224	212	216			NA	NA	1		NA											NA				71536592		2203	4300	6503	SO:0001587	stop_gained			AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485	9406	9406		Zinc fingers, RAN-binding domain containing	13058	protein-coding gene	gene with protein product		604347	zinc finger protein 265	ZNF265	NA	9931435	Standard	NM_203350	NM_005455	NA	Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.601C>T	1.37:g.71536592G>A	ENSP00000359958:p.Arg201*	NA	D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	37	CCDS659.1	.	.	.	.	.	.	.	.	.	.	G	38	7.206621	0.98136	.	.	ENSG00000132485	ENST00000370920;ENST00000254821	.	.	.	5.76	3.75	0.43078	.	0.189634	0.46758	D	0.000272	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	14.2861	0.66247	0.0:0.0:0.6251:0.3749	.	.	.	.	X	201	.	ENSP00000254821:R201X	R	-	1	2	ZRANB2	71309180	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.443000	0.52907	1.531000	0.49152	0.650000	0.86243	CGA	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026636.1		-	ENST00000370920.3	Nonsense_Mutation	SNP	1 : 71536592 - 71536592 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	486	51
RABEP1	9135	broad.mit.edu	37	17	5284791	5284791	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5284791G>A	ENST00000546142.2	+	17	2665	c.2478G>A	c.(2476-2478)caG>caA	p.Q826Q	RABEP1_ENST00000262477.6_Silent_p.Q826Q|NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000341923.6_Silent_p.Q793Q|RABEP1_ENST00000408982.2_Silent_p.Q793Q|RABEP1_ENST00000537505.1_Silent_p.Q783Q			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	826					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						AGCTTTCACAGACCCTTCAGG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	87	87			NA	NA	17		NA											NA				5284791		1897	4123	6020	SO:0001819	synonymous_variant			AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725	9135	9135			17677	protein-coding gene	gene with protein product		603616			NA	8521472	Standard	NM_004703	NM_001291582	NA	Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.2478G>A	17.37:g.5284791G>A		NA	B2RAG7|O95369|Q8IVX3	37	CCDS45592.1																																																																																			RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000439349.1		+	ENST00000546142.2	Silent	SNP	17 : 5284791 - 5284791 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	330	50
BTNL9	153579	broad.mit.edu	37	5	180480219	180480219	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180480219C>A	ENST00000515271.1	+	4	814	c.549C>A	c.(547-549)gcC>gcA	p.A183A	BTNL9_ENST00000376842.3_Silent_p.A252A|BTNL9_ENST00000511589.1_3'UTR|BTNL9_ENST00000327705.9_Silent_p.A252A|BTNL9_ENST00000376841.2_Silent_p.A252A			Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	252						integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TACCCGGAGCCTCTGCGTGGA	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	22	21			NA	NA	5		NA											NA				180480219		2174	4247	6421	SO:0001819	synonymous_variant			AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810	153579	153579		Immunoglobulin superfamily / V-set domain containing, Butyrophilins	24176	protein-coding gene	gene with protein product					NA		Standard	NM_152547	NM_152547	NA	Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000515271.1:c.549C>A	5.37:g.180480219C>A		NA	A6NL42|Q6P660|Q96DM5	37																																																																																				BTNL9-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000367224.1		+	ENST00000515271.1	Silent	SNP	5 : 180480219 - 180480219 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	76	20
AOC1	26	broad.mit.edu	37	7	150558089	150558089	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150558089C>T	ENST00000493429.1	+	7	2632	c.2048C>T	c.(2047-2049)cCc>cTc	p.P683L	AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Missense_Mutation_p.P683L|AOC1_ENST00000416793.2_Missense_Mutation_p.P702L|AOC1_ENST00000467291.1_Missense_Mutation_p.P683L					amine oxidase, copper containing 1	NA											NA						GAGGACATTCCCAACACAGCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	76	72			NA	NA	7		NA											NA				150558089		2066	4207	6273	SO:0001583	missense			AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	26	26	1.4.3.22		80	protein-coding gene	gene with protein product	diamine oxidase	104610	amiloride binding protein 1 (amine oxidase (copper-containing))	ABP1	NA	8182053	Standard	NM_001091	NM_001091	NA	Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.2048C>T	7.37:g.150558089C>T	ENSP00000418614:p.Pro683Leu	NA		37	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382046	0.82792	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000416793;ENST00000437714	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.01	4.13	0.48395	Copper amine oxidase, C-terminal (3);	0.178483	0.50627	D	0.000120	T	0.69886	0.3161	M	0.92691	3.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	T	0.75921	-0.3147	10	0.87932	D	0	-47.003	10.9465	0.47304	0.0:0.9084:0.0:0.0916	.	702;683	C9J690;P19801	.;ABP1_HUMAN	L	683;683;683;702;559	ENSP00000418614:P683L;ENSP00000418328:P683L;ENSP00000354193:P683L;ENSP00000411613:P702L	ENSP00000354193:P683L	P	+	2	0	ABP1	150189022	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.421000	0.80204	1.108000	0.41662	0.484000	0.47621	CCC	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350628.1		+	ENST00000493429.1	Missense_Mutation	SNP	7 : 150558089 - 150558089 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	434	72
USP9X	8239	broad.mit.edu	37	X	41000309	41000309	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41000309A>G	ENST00000324545.8	+	8	1494	c.861A>G	c.(859-861)gaA>gaG	p.E287E	USP9X_ENST00000378308.2_Silent_p.E287E	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	NA					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AGTTTTTAGAAAACTTAACTG	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(172;1807 2695 35459 49286)							NA				0													22	22	22			NA	NA	X		NA											NA				41000309		2116	4228	6344	SO:0001819	synonymous_variant			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486	8239	8239		Ubiquitin-specific peptidases	12632	protein-coding gene	gene with protein product		300072	ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila), ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila), ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)		NA	8922996	Standard	NM_004652	NM_001039590	NA	Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.861A>G	X.37:g.41000309A>G		NA	O75550|Q8WWT3|Q8WX12	37	CCDS43930.1																																																																																			USP9X-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056250.4		+	ENST00000324545.8	Silent	SNP	X : 41000309 - 41000309 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	84	22
FAT4	79633	broad.mit.edu	37	4	126336699	126336699	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126336699T>C	ENST00000394329.3	+	5	6594	c.6581T>C	c.(6580-6582)gTt>gCt	p.V2194A	FAT4_ENST00000335110.5_Missense_Mutation_p.V492A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2194	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TATGGCATTGTTAATGGTAAT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	152	158			NA	NA	4		NA											NA				126336699		2203	4300	6503	SO:0001583	missense			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159	79633	79633		Cadherins / Cadherin-related	23109	protein-coding gene	gene with protein product	cadherin-related family member 11	612411	FAT tumor suppressor homolog 4 (Drosophila)		NA	15003449	Standard	NM_024582	NM_024582	NA	Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6581T>C	4.37:g.126336699T>C	ENSP00000377862:p.Val2194Ala	NA	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	T	3.713	-0.059170	0.07317	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.51574	0.7;0.7	5.6	5.6	0.85130	Cadherin (4);Cadherin-like (1);	0.260892	0.18847	U	0.129510	T	0.39784	0.1091	L	0.35793	1.09	0.09310	N	1	B;B	0.19935	0.022;0.04	B;B	0.27262	0.026;0.078	T	0.23440	-1.0188	10	0.09843	T	0.71	.	15.8	0.78447	0.0:0.0:0.0:1.0	.	492;2194	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	A	2194;492	ENSP00000377862:V2194A;ENSP00000335169:V492A	ENSP00000335169:V492A	V	+	2	0	FAT4	126556149	0.542000	0.26426	0.005000	0.12908	0.057000	0.15508	4.622000	0.61240	2.135000	0.66039	0.455000	0.32223	GTT	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256765.2		+	ENST00000394329.3	Missense_Mutation	SNP	4 : 126336699 - 126336699 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	716	142
ZBTB14	7541	broad.mit.edu	37	18	5290889	5290889	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:5290889C>T	ENST00000357006.4	-	4	1656	c.1318G>A	c.(1318-1320)Gaa>Aaa	p.E440K	ZBTB14_ENST00000400143.3_Missense_Mutation_p.E440K	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1			zinc finger and BTB domain containing 14	NA											NA						AGCTGCTGTTCTGCTTCCGCA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	76	80			NA	NA	18		NA											NA				5290889		2203	4300	6503	SO:0001583	missense			D89859	CCDS11837.1	18p11.31	2013-09-19	2013-01-08	2013-01-08	ENSG00000198081	ENSG00000198081	7541	7541		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	12860	protein-coding gene	gene with protein product		602126	zinc finger protein 161 homolog (mouse), zinc finger protein 161, ZFP161 zinc finger protein	ZFP161	NA	9244432	Standard	NM_003409	NM_001243702	NA	Approved	ZNF478	uc010dkp.3	O43829	OTTHUMG00000131563	ENST00000357006.4:c.1318G>A	18.37:g.5290889C>T	ENSP00000349503:p.Glu440Lys	NA		37	CCDS11837.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742409	0.69418	.	.	ENSG00000198081	ENST00000357006;ENST00000400143	T;T	0.10005	2.92;2.92	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.07324	0.0185	N	0.14661	0.345	0.80722	D	1	P	0.41232	0.743	B	0.28385	0.089	T	0.23547	-1.0185	10	0.66056	D	0.02	-27.6814	19.8253	0.96616	0.0:1.0:0.0:0.0	.	440	O43829	ZF161_HUMAN	K	440	ENSP00000349503:E440K;ENSP00000383009:E440K	ENSP00000349503:E440K	E	-	1	0	ZFP161	5280889	.	.	0.956000	0.39512	0.461000	0.32589	.	.	2.676000	0.91093	0.650000	0.86243	GAA	ZBTB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254425.1		-	ENST00000357006.4	Missense_Mutation	SNP	18 : 5290889 - 5290889 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	489	92
MCM3AP	8888	broad.mit.edu	37	21	47671525	47671525	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47671525G>T	ENST00000397708.1	-	21	4462	c.4208C>A	c.(4207-4209)gCt>gAt	p.A1403D	MCM3AP_ENST00000291688.1_Missense_Mutation_p.A1403D|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|AP001469.9_ENST00000447037.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000467026.1_5'UTR			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1403					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AATCCCACCAGCATCGCTGGA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	81	85			NA	NA	21		NA											NA				47671525		2203	4300	6503	SO:0001583	missense			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294	8888	8888			6946	protein-coding gene	gene with protein product	germinal-centre associated nuclear protein	603294	minichromosome maintenance deficient (S. cerevisiae) 3-associated protein, MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein		NA	9712829, 16914116, 21195085	Standard	NM_003906	XM_005261205	NA	Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.4208C>A	21.37:g.47671525G>T	ENSP00000380820:p.Ala1403Asp	NA	Q2M3C1|Q9UMT4	37	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.863979	0.32884	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.46819	0.86;0.86	5.44	1.23	0.21249	.	0.684405	0.15053	N	0.283175	T	0.29458	0.0734	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20438	-1.0275	10	0.12766	T	0.61	-2.1432	4.6531	0.12605	0.18:0.0:0.3759:0.444	.	1403	O60318	MCM3A_HUMAN	D	1403	ENSP00000380820:A1403D;ENSP00000291688:A1403D	ENSP00000291688:A1403D	A	-	2	0	MCM3AP	46495953	0.000000	0.05858	0.696000	0.30242	0.841000	0.47740	0.303000	0.19210	0.240000	0.21263	0.655000	0.94253	GCT	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207254.1		-	ENST00000397708.1	Missense_Mutation	SNP	21 : 47671525 - 47671525 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	167	31
CES5A	221223	broad.mit.edu	37	16	55903635	55903635	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55903635C>A	ENST00000521992.1	-	5	671	c.526G>T	c.(526-528)Ggt>Tgt	p.G176C	CES5A_ENST00000518005.1_Missense_Mutation_p.G41C|CES5A_ENST00000290567.9_Missense_Mutation_p.G147C|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000319165.9_Missense_Mutation_p.G147C|CES5A_ENST00000520435.1_Missense_Mutation_p.G117C	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	147						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TTGAAGGCACCTCCTGGGAAC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	46	52			NA	NA	16		NA											NA				55903635		2198	4300	6498	SO:0001583	missense			AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	221223	221223	3.1.1.1	Carboxylesterases	26459	protein-coding gene	gene with protein product			carboxylesterase 7	CES7	NA	20931200	Standard	NM_145024	NM_145024	NA	Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000521992.1:c.526G>T	16.37:g.55903635C>A	ENSP00000428864:p.Gly176Cys	NA	B7ZLB6|Q8NBC8|Q96DN9	37	CCDS54012.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993079	0.54041	.	.	ENSG00000159398	ENST00000521992;ENST00000319165;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000536025	T;T;T;T;T;D	0.84516	-0.34;-0.34;-0.34;-0.34;-0.34;-1.86	4.94	4.94	0.65067	Carboxylesterase, type B (1);	0.000000	0.64402	D	0.000012	D	0.95856	0.8651	H	0.99273	4.495	0.58432	D	0.999996	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.987	D	0.97730	1.0202	10	0.87932	D	0	.	16.0398	0.80654	0.0:1.0:0.0:0.0	.	147;147	Q6NT32;Q6NT32-2	EST5A_HUMAN;.	C	176;147;41;147;117;41	ENSP00000428864:G176C;ENSP00000324271:G147C;ENSP00000428571:G41C;ENSP00000290567:G147C;ENSP00000428887:G117C;ENSP00000439810:G41C	ENSP00000290567:G147C	G	-	1	0	CES5A	54461136	0.999000	0.42202	0.630000	0.29268	0.049000	0.14656	5.220000	0.65267	2.440000	0.82611	0.557000	0.71058	GGT	CES5A-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381289.1		-	ENST00000521992.1	Missense_Mutation	SNP	16 : 55903635 - 55903635 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	76	20
SPEN	23013	broad.mit.edu	37	1	16264404	16264404	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16264404G>A	ENST00000375759.3	+	13	10811	c.10607G>A	c.(10606-10608)cGg>cAg	p.R3536Q		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3536	SPOC.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTGGCCCATCGGTCCCTGCCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	85	86			NA	NA	1		NA											NA				16264404		2203	4300	6503	SO:0001583	missense				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526	23013	23013		RNA binding motif (RRM) containing	17575	protein-coding gene	gene with protein product		613484	SPEN homolog, transcriptional regulator (Drosophila), spen homolog, transcriptional regulator (Drosophila)		NA	10451362, 11331609	Standard	NM_015001	NM_015001	NA	Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.10607G>A	1.37:g.16264404G>A	ENSP00000364912:p.Arg3536Gln	NA	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727230	0.89390	.	.	ENSG00000065526	ENST00000375759	T	0.09350	2.99	5.3	5.3	0.74995	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);Spen paralogue/orthologue C-terminal, metazoa (1);Spen paralogue and orthologue SPOC, C-terminal (1);	.	.	.	.	T	0.10423	0.0255	L	0.38175	1.15	0.58432	D	0.999999	P	0.48294	0.908	B	0.39217	0.294	T	0.26538	-1.0100	9	0.18276	T	0.48	-15.3801	19.3263	0.94264	0.0:0.0:1.0:0.0	.	3536	Q96T58	MINT_HUMAN	Q	3536	ENSP00000364912:R3536Q	ENSP00000364912:R3536Q	R	+	2	0	SPEN	16136991	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.350000	0.97070	2.628000	0.89032	0.655000	0.94253	CGG	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025993.1		+	ENST00000375759.3	Missense_Mutation	SNP	1 : 16264404 - 16264404 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	561	104
HMGCS2	3158	broad.mit.edu	37	1	120295298	120295298	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120295298C>T	ENST00000369406.3	-	8	1344		c.e8-1		HMGCS2_ENST00000544913.2_Splice_Site	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	NA					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		AGGGGAGAGCCTGGGAAGCAA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	111	111			NA	NA	1		NA											NA				120295298		2203	4300	6503	SO:0001630	splice_region_variant			BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240	3158	3158			5008	protein-coding gene	gene with protein product		600234	3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)		NA	7851882, 7893153	Standard	NM_005518	NM_005518	NA	Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.1295-1G>A	1.37:g.120295298C>T		NA	Q5SZU2	37	CCDS905.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.047514	0.55110	.	.	ENSG00000134240	ENST00000369406;ENST00000544913	.	.	.	5.43	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2131	0.59836	0.0:0.9223:0.0:0.0777	.	.	.	.	.	-1	.	.	.	-	.	.	HMGCS2	120096821	1.000000	0.71417	0.997000	0.53966	0.712000	0.41017	5.072000	0.64389	1.416000	0.47057	0.655000	0.94253	.	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033469.2	Intron	-	ENST00000369406.3	Splice_Site	SNP	1 : 120295298 - 120295298 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	383	76
TTN	7273	broad.mit.edu	37	2	179434671	179434671	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179434671G>T	ENST00000589042.1	-	326	76412	c.76188C>A	c.(76186-76188)taC>taA	p.Y25396*	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.Y23755*|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Y16456*|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.Y16331*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y22828*|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.Y16523*|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23755	Fibronectin type-III 84.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGCCTTTTGGTAAGCAGAAG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	105	106			NA	NA	2		NA											NA				179434671		1874	4104	5978	SO:0001587	stop_gained			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.76188C>A	2.37:g.179434671G>T	ENSP00000467141:p.Tyr25396*	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	G	63	75.056652	0.99993	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.03	3.26	0.37387	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.4014	0.16299	0.2655:0.0:0.6036:0.1309	.	.	.	.	X	22828;16331;16523;16456;16329	.	ENSP00000340554:Y16523X	Y	-	3	2	TTN	179142917	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	2.980000	0.49321	0.422000	0.26005	0.655000	0.94253	TAC	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Nonsense_Mutation	SNP	2 : 179434671 - 179434671 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	304	48
DNAH11	8701	broad.mit.edu	37	7	21630818	21630818	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21630818G>A	ENST00000409508.3	+	14	2321	c.2290G>A	c.(2290-2292)Gac>Aac	p.D764N	DNAH11_ENST00000328843.6_Missense_Mutation_p.D764N	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	764	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGGAAATCTTGACCTTCTTGT	0.383		NA							Kartagener syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	35	34			NA	NA	7		NA											NA				21630818		1829	4081	5910	SO:0001583	missense	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04				8701	8701		Axonemal dyneins	2942	protein-coding gene	gene with protein product	dynein, ciliary, heavy chain 11, dynein, heavy chain beta-like	603339	dynein, axonemal, heavy polypeptide 11		NA	9256245	Standard	NM_003777	NM_001277115	NA	Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2290G>A	7.37:g.21630818G>A	ENSP00000475939:p.Asp764Asn	NA	Q9UJ82	37		.	.	.	.	.	.	.	.	.	.	G	12.76	2.034516	0.35893	.	.	ENSG00000105877	ENST00000328843	T	0.54479	0.57	5.57	5.57	0.84162	Dynein heavy chain, domain-1 (1);	0.949886	0.08876	N	0.880782	T	0.43144	0.1234	.	.	.	0.25084	N	0.990906	B	0.10296	0.003	B	0.08055	0.003	T	0.19386	-1.0307	9	0.19147	T	0.46	.	18.3291	0.90262	0.0:0.0:1.0:0.0	.	764	Q96DT5	DYH11_HUMAN	N	764	ENSP00000330671:D764N	ENSP00000330671:D764N	D	+	1	0	DNAH11	21597343	1.000000	0.71417	0.881000	0.34555	0.956000	0.61745	4.301000	0.59086	2.618000	0.88619	0.561000	0.74099	GAC	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000326582.6		+	ENST00000409508.3	Missense_Mutation	SNP	7 : 21630818 - 21630818 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	239	37
LBR	3930	broad.mit.edu	37	1	225591097	225591097	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:225591097G>A	ENST00000338179.2	-	14	1881	c.1756C>T	c.(1756-1758)Cgt>Tgt	p.R586C	LBR_ENST00000272163.4_Missense_Mutation_p.R586C	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	586					cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		TACTCGTCACGAGCTTCTCGG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	96	97			NA	NA	1		NA											NA				225591097		2203	4300	6503	SO:0001583	missense			L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815	3930	3930		Tudor domain containing	6518	protein-coding gene	gene with protein product	tudor domain containing 18	600024			NA	8157663, 9878250	Standard	NM_002296	NM_194442	NA	Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.1756C>T	1.37:g.225591097G>A	ENSP00000339883:p.Arg586Cys	NA	B2R5P3|Q14740|Q53GU7|Q59FE6	37	CCDS1545.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760754	0.89932	.	.	ENSG00000143815	ENST00000272163;ENST00000338179	D;D	0.99259	-5.64;-5.64	6.16	6.16	0.99307	Sterol reductase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99670	0.9877	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97704	1.0186	10	0.87932	D	0	-21.4596	15.5636	0.76269	0.0:0.0:0.8622:0.1378	.	586	Q14739	LBR_HUMAN	C	586	ENSP00000272163:R586C;ENSP00000339883:R586C	ENSP00000272163:R586C	R	-	1	0	LBR	223657720	1.000000	0.71417	0.263000	0.24496	0.792000	0.44763	7.718000	0.84743	2.937000	0.99478	0.650000	0.86243	CGT	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091398.1		-	ENST00000338179.2	Missense_Mutation	SNP	1 : 225591097 - 225591097 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	416	108
SENP6	26054	broad.mit.edu	37	6	76412670	76412670	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76412670T>G	ENST00000447266.2	+	19	3076	c.2598T>G	c.(2596-2598)caT>caG	p.H866Q	SENP6_ENST00000370010.2_Missense_Mutation_p.H859Q|SENP6_ENST00000541192.1_Intron|SENP6_ENST00000370014.3_Missense_Mutation_p.H866Q	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	866	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AAATAAATCATACTGCGAGTG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	123	124			NA	NA	6		NA											NA				76412670		1834	4093	5927	SO:0001583	missense				CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701	26054	26054			20944	protein-coding gene	gene with protein product		605003	SUMO1/sentrin specific protease 6		NA		Standard	NM_015571	NM_015571	NA	Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.2598T>G	6.37:g.76412670T>G	ENSP00000402527:p.His866Gln	NA	A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	37	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	T	3.877	-0.026728	0.07589	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000447266	T;T;T	0.10763	2.84;2.84;2.84	5.85	0.5	0.16919	.	0.313789	0.35179	N	0.003387	T	0.01189	0.0039	N	0.11560	0.145	0.31730	N	0.637123	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.47420	-0.9119	10	0.27082	T	0.32	-7.1186	1.7865	0.03043	0.1332:0.1508:0.3504:0.3656	.	859;866	Q9GZR1-2;Q9GZR1	.;SENP6_HUMAN	Q	859;866;866	ENSP00000359027:H859Q;ENSP00000359031:H866Q;ENSP00000402527:H866Q	ENSP00000359027:H859Q	H	+	3	2	SENP6	76469390	0.998000	0.40836	0.976000	0.42696	0.868000	0.49771	0.292000	0.19011	0.142000	0.18901	-0.361000	0.07541	CAT	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041272.2		+	ENST00000447266.2	Missense_Mutation	SNP	6 : 76412670 - 76412670 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	760	149
LRRN2	10446	broad.mit.edu	37	1	204588892	204588892	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204588892G>A	ENST00000367175.1	-	1	2441	c.229C>T	c.(229-231)Cag>Tag	p.Q77*	LRRN2_ENST00000367176.3_Nonsense_Mutation_p.Q77*|LRRN2_ENST00000367177.3_Nonsense_Mutation_p.Q77*			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	77					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CTGTTGCTCTGCAGGAGCAGG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	63	64			NA	NA	1		NA											NA				204588892		2203	4300	6503	SO:0001587	stop_gained			AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382	10446	10446		Immunoglobulin superfamily / I-set domain containing	16914	protein-coding gene	gene with protein product	leucine rich and ankyrin repeats 1, fibronectin type III, immunoglobulin and leucine rich repeat domain 7	605492	leucine rich repeat neuronal 5	LRRN5	NA	9662332	Standard	NM_006338	NM_006338	NA	Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.229C>T	1.37:g.204588892G>A	ENSP00000356143:p.Gln77*	NA	B2R624|Q5T0Y0|Q6UXM0|Q8N182	37	CCDS1448.1	.	.	.	.	.	.	.	.	.	.	G	40	8.426355	0.98806	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	.	.	.	5.67	5.67	0.87782	.	0.000000	0.40469	N	0.001081	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4225	0.94727	0.0:0.0:1.0:0.0	.	.	.	.	X	77	.	ENSP00000356143:Q77X	Q	-	1	0	LRRN2	202855515	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.866000	0.99616	2.684000	0.91462	0.650000	0.86243	CAG	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089894.1		-	ENST00000367175.1	Nonsense_Mutation	SNP	1 : 204588892 - 204588892 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	447	68
NTRK2	4915	broad.mit.edu	37	9	87339252	87339252	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:87339252T>G	ENST00000304053.6	+	8	1317	c.834T>G	c.(832-834)tcT>tcG	p.S278S	NTRK2_ENST00000395882.1_Silent_p.S278S|NTRK2_ENST00000376213.1_Silent_p.S278S|NTRK2_ENST00000376208.1_Silent_p.S278S|NTRK2_ENST00000277120.3_Silent_p.S278S|NTRK2_ENST00000359847.3_Silent_p.S278S|NTRK2_ENST00000376214.1_Silent_p.S278S|NTRK2_ENST00000323115.4_Silent_p.S278S|NTRK2_ENST00000395866.2_Silent_p.S122S	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	278	Ig-like C2-type 1.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						ATCAAGATTCTGTCAACCTCA	0.448		NA								TSP Lung(25;0.17)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													233	221	225			NA	NA	9		NA											NA				87339252		2203	4300	6503	SO:0001819	synonymous_variant			AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	4915	4915	2.7.10.1	Immunoglobulin superfamily / I-set domain containing	8032	protein-coding gene	gene with protein product		600456			NA	7789988	Standard		NM_001018065	NA	Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000304053.6:c.834T>G	9.37:g.87339252T>G		NA	B1ANZ4|Q16675|Q8WXJ6	37	CCDS35051.1																																																																																			NTRK2-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052884.1		+	ENST00000304053.6	Silent	SNP	9 : 87339252 - 87339252 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	914	174
NACA	4666	broad.mit.edu	37	12	57113606	57113606	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57113606A>G	ENST00000550952.1	-	3	1746	c.1708T>C	c.(1708-1710)Tcc>Ccc	p.S570P	NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000454682.1_Missense_Mutation_p.S570P|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron			Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	41					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AAAGAAGGGGAATTTTTAGGG	0.502		NA	T	BCL6	NHL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0													66	66	66			NA	NA	12		NA											NA				57113606		1568	3582	5150	SO:0001583	missense			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531	4666	4666			7629	protein-coding gene	gene with protein product		601234	nascent-polypeptide-associated complex alpha polypeptide		NA	8047162	Standard	NM_005594	NM_001113202	NA	Approved	NACA1	uc001sma.2	E9PAV3		ENST00000550952.1:c.1708T>C	12.37:g.57113606A>G	ENSP00000448035:p.Ser570Pro	NA	Q3KQV4|Q53A18|Q53G46	37	CCDS44925.2	.	.	.	.	.	.	.	.	.	.	A	6.909	0.537275	0.13188	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.60920	0.15;0.76	3.55	-0.573	0.11742	.	.	.	.	.	T	0.31295	0.0792	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.006;0.001	B;B	0.08055	0.002;0.003	T	0.20538	-1.0272	9	0.87932	D	0	.	3.5169	0.07728	0.5152:0.2055:0.2793:0.0	.	570;570	E9PAV3;F8VU71	.;.	P	570	ENSP00000403817:S570P;ENSP00000448035:S570P	ENSP00000403817:S570P	S	-	1	0	NACA	55399873	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.020000	0.13466	-0.006000	0.14370	0.369000	0.22263	TCC	NACA-004	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407275.1		-	ENST00000550952.1	Missense_Mutation	SNP	12 : 57113606 - 57113606 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	228	49
TAF15	8148	broad.mit.edu	37	17	34171486	34171486	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34171486C>T	ENST00000588240.1	+	15	1298	c.1183C>T	c.(1183-1185)Cgg>Tgg	p.R395W	TAF15_ENST00000592237.1_Missense_Mutation_p.R304W|TAF15_ENST00000311979.3_Missense_Mutation_p.R392W	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	395	Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TGCAGATTTCCGGGGGAGAGG	0.542		NA	T	TEC, CHN1, ZNF384	extraskeletal myxoid chondrosarcomas, ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		17	17q11.1-q11.2	8148	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa		L, M	0													110	122	118			NA	NA	17		NA											NA				34171486		2202	4299	6501	SO:0001583	missense			U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647	8148	8148		RNA binding motif (RRM) containing	11547	protein-coding gene	gene with protein product		601574	TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)	TAF2N	NA	8954779, 9795213	Standard	NM_139215	NM_003487	NA	Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.1183C>T	17.37:g.34171486C>T	ENSP00000466950:p.Arg395Trp	NA	B2R837|Q92751	37	CCDS32623.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.915436	0.33815	.	.	ENSG00000172660	ENST00000311979;ENST00000536077	.	.	.	5.0	4.01	0.46588	.	.	.	.	.	T	0.30135	0.0755	N	0.08118	0	0.38188	D	0.939823	B;B	0.24618	0.065;0.107	B;B	0.13407	0.004;0.009	T	0.19063	-1.0317	8	0.66056	D	0.02	-5.036	8.4932	0.33112	0.1747:0.6565:0.1688:0.0	.	395;392	Q92804;Q92804-2	RBP56_HUMAN;.	W	395;198	.	ENSP00000309558:R395W	R	+	1	2	TAF15	31195599	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	4.587000	0.60991	1.090000	0.41315	0.591000	0.81541	CGG	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449134.1		+	ENST00000588240.1	Missense_Mutation	SNP	17 : 34171486 - 34171486 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1001	203
HEG1	57493	broad.mit.edu	37	3	124746246	124746246	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124746246G>A	ENST00000311127.4	-	3	783	c.716C>T	c.(715-717)gCg>gTg	p.A239V		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	239						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CAGCCCCATCGCCCTCTCTGT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	63	63			NA	NA	3		NA											NA				124746246		1973	4148	6121	SO:0001583	missense			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706	57493	57493			29227	protein-coding gene	gene with protein product	heart of glass	614182	HEG homolog 1 (zebrafish)		NA	10574462, 19151727, 23007647	Standard	XM_087386	NM_020733	NA	Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.716C>T	3.37:g.124746246G>A	ENSP00000311502:p.Ala239Val	NA	Q6NX66|Q8NC40|Q9BSV0	37	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	G	8.607	0.888195	0.17540	.	.	ENSG00000173706	ENST00000311127	T	0.42900	0.96	4.66	-7.15	0.01521	.	.	.	.	.	T	0.16257	0.0391	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15464	-1.0436	9	0.39692	T	0.17	.	3.2358	0.06763	0.1064:0.1681:0.4252:0.3003	.	239;239	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	V	239	ENSP00000311502:A239V	ENSP00000311502:A239V	A	-	2	0	HEG1	126228936	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.919000	0.00334	-1.802000	0.01244	-2.159000	0.00328	GCG	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355732.2		-	ENST00000311127.4	Missense_Mutation	SNP	3 : 124746246 - 124746246 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	239	29
KCNH1	3756	broad.mit.edu	37	1	211280608	211280608	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:211280608C>A	ENST00000367007.4	-	2	360	c.191G>T	c.(190-192)aGc>aTc	p.S64I	KCNH1_ENST00000271751.4_Missense_Mutation_p.S64I	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	64	PAS.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GCAGGTGCTGCTTTTTTGCAT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	140	139			NA	NA	1		NA											NA				211280608		2203	4300	6503	SO:0001583	missense			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473	3756	3756		Potassium channels, Voltage-gated ion channels / Potassium channels	6250	protein-coding gene	gene with protein product		603305			NA	9738473, 16382104	Standard	NM_002238	NM_172362	NA	Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000367007.4:c.191G>T	1.37:g.211280608C>A	ENSP00000355974:p.Ser64Ile	NA	B1AQ26|O76035	37	CCDS31015.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703773	0.88924	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.99691	-6.42;-6.42	5.62	5.62	0.85841	PAS (3);PAS fold (1);	0.000000	0.85682	D	0.000000	D	0.99736	0.9896	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	D	0.97620	1.0135	10	0.87932	D	0	.	18.6649	0.91486	0.0:1.0:0.0:0.0	.	64;64	Q14CL3;O95259	.;KCNH1_HUMAN	I	64	ENSP00000271751:S64I;ENSP00000355974:S64I	ENSP00000271751:S64I	S	-	2	0	KCNH1	209347231	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.470000	0.80973	2.634000	0.89283	0.655000	0.94253	AGC	KCNH1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088568.1		-	ENST00000367007.4	Missense_Mutation	SNP	1 : 211280608 - 211280608 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	639	112
STK11IP	114790	broad.mit.edu	37	2	220473895	220473895	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220473895G>A	ENST00000456909.1	+	16	1976	c.1886G>A	c.(1885-1887)cGc>cAc	p.R629H	STK11IP_ENST00000295641.10_Missense_Mutation_p.R640H			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	640					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGTTGCGTCGCTATTTGGTG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	0,4126		0,0,2063	34	35	34		1919	5	1	2		34	1,8379		0,1,4189	no	missense	STK11IP	NM_052902.2	29	0,1,6252	AA,AG,GG	NA	0.0119,0.0,0.0080	possibly-damaging	640/1100	220473895	1,12505	2063	4190	6253	SO:0001583	missense			AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589	114790	114790			19184	protein-coding gene	gene with protein product	LKB1 interacting protein	607172			NA	11741830	Standard	NM_052902	NM_052902	NA	Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.1886G>A	2.37:g.220473895G>A	ENSP00000389383:p.Arg629His	NA	Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	37		.	.	.	.	.	.	.	.	.	.	G	23.6	4.439158	0.83885	0.0	1.19E-4	ENSG00000144589	ENST00000456909;ENST00000426736;ENST00000295641	T;T	0.05996	3.36;3.36	5.0	5.0	0.66597	.	0.486615	0.20714	N	0.087027	T	0.19046	0.0457	L	0.60455	1.87	0.34520	D	0.708063	D;D;D	0.89917	1.0;0.999;0.999	P;P;P	0.62014	0.897;0.897;0.855	T	0.04178	-1.0971	10	0.46703	T	0.11	-12.346	15.3457	0.74334	0.0:0.0:1.0:0.0	.	608;640;640	B4DUE4;Q8N1F8-2;Q8N1F8	.;.;S11IP_HUMAN	H	629;608;640	ENSP00000389383:R629H;ENSP00000295641:R640H	ENSP00000295641:R640H	R	+	2	0	STK11IP	220182139	0.994000	0.37717	0.991000	0.47740	0.982000	0.71751	2.394000	0.44450	2.595000	0.87683	0.655000	0.94253	CGC	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000131432.1		+	ENST00000456909.1	Missense_Mutation	SNP	2 : 220473895 - 220473895 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	76	18
SLC6A6	6533	broad.mit.edu	37	3	14489097	14489097	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14489097C>A	ENST00000454876.2	+	5	701	c.372C>A	c.(370-372)ggC>ggA	p.G124G	SLC6A6_ENST00000484191.1_3'UTR|SLC6A6_ENST00000416216.2_Silent_p.G124G|SLC6A6_ENST00000360861.3_Silent_p.G124G			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	124					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CAGGTATCGGCTATGCCTCCG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													386	371	376			NA	NA	3		NA											NA				14489097		2203	4300	6503	SO:0001819	synonymous_variant				CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389	6533	6533		Solute carriers	11052	protein-coding gene	gene with protein product	taurine transporter	186854	solute carrier family 6 (neurotransmitter transporter, taurine), member 6		NA	8010975, 8382624	Standard	NM_003043	XM_006713307	NA	Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.372C>A	3.37:g.14489097C>A		NA	Q9BXB0	37	CCDS33705.1																																																																																			SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340507.1		+	ENST00000454876.2	Silent	SNP	3 : 14489097 - 14489097 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2813	539
UGP2	7360	broad.mit.edu	37	2	64109652	64109652	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64109652C>T	ENST00000445915.2	+	4	402	c.335C>T	c.(334-336)tCc>tTc	p.S112F	UGP2_ENST00000337130.5_Missense_Mutation_p.S103F|UGP2_ENST00000467648.2_Missense_Mutation_p.S92F|UGP2_ENST00000394417.2_Missense_Mutation_p.S92F|UGP2_ENST00000487469.1_3'UTR			Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	103					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						AATATATCTTCCGTGTTGAAC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	113	111			NA	NA	2		NA											NA				64109652		2203	4300	6503	SO:0001583	missense				CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	7360	7360	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	UDP-glucose pyrophosphorylase 1	UGP1	NA		Standard	NM_006759	NM_006759	NA	Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000445915.2:c.335C>T	2.37:g.64109652C>T	ENSP00000411803:p.Ser112Phe	NA	Q07131|Q0P6K2|Q86Y81|Q9BU15	37		.	.	.	.	.	.	.	.	.	.	C	22.8	4.337641	0.81911	.	.	ENSG00000169764	ENST00000394417;ENST00000482668;ENST00000467648;ENST00000337130;ENST00000488245;ENST00000497883;ENST00000445915;ENST00000475462;ENST00000491621;ENST00000472047	T;T;T;T;T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17	5.77	5.77	0.91146	.	0.270254	0.42682	D	0.000663	T	0.34424	0.0897	L	0.61036	1.89	0.80722	D	1	P;P	0.41710	0.76;0.64	P;P	0.45474	0.482;0.482	T	0.04579	-1.0941	10	0.72032	D	0.01	-6.8018	19.9915	0.97366	0.0:1.0:0.0:0.0	.	112;103	E7EUC7;Q16851	.;UGPA_HUMAN	F	92;92;92;103;92;95;112;92;92;92	ENSP00000377939:S92F;ENSP00000419548:S92F;ENSP00000420793:S92F;ENSP00000338703:S103F;ENSP00000419442:S92F;ENSP00000420131:S95F;ENSP00000411803:S112F;ENSP00000419335:S92F;ENSP00000420342:S92F;ENSP00000419238:S92F	ENSP00000338703:S103F	S	+	2	0	UGP2	63963156	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.035000	0.49759	2.723000	0.93209	0.655000	0.94253	TCC	UGP2-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000353860.2		+	ENST00000445915.2	Missense_Mutation	SNP	2 : 64109652 - 64109652 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	702	100
CD97	976	broad.mit.edu	37	19	14501839	14501839	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14501839G>A	ENST00000242786.5	+	4	374	c.294G>A	c.(292-294)gaG>gaA	p.E98E	CD97_ENST00000587728.1_3'UTR|CD97_ENST00000357355.3_Silent_p.E98E|CD97_ENST00000358600.3_Silent_p.E98E	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	98	EGF-like 2; calcium-binding (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CGGGATATGAGCCTGTTTCTG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	138	149			NA	NA	19		NA											NA				14501839		2203	4300	6503	SO:0001819	synonymous_variant				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146	976	976		CD molecules, -, GPCR / Class B : Orphans	1711	protein-coding gene	gene with protein product	leukocyte antigen CD97, seven-span transmembrane protein, seven-transmembrane, heterodimeric receptor associated with inflammation, seven transmembrane helix receptor	601211	CD97 antigen		NA	7636245, 8786105	Standard	NM_078481	NM_078481	NA	Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.294G>A	19.37:g.14501839G>A		NA	A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	37	CCDS32929.1																																																																																			CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459821.2		+	ENST00000242786.5	Silent	SNP	19 : 14501839 - 14501839 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	410	59
STOML2	30968	broad.mit.edu	37	9	35101490	35101490	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35101490C>T	ENST00000356493.5	-	6	574	c.512G>A	c.(511-513)cGc>cAc	p.R171H	STOML2_ENST00000452248.2_Intron	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	171						cytoskeleton	receptor binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ACGGAGGCAGCGGATACCCCA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	142	141			NA	NA	9		NA											NA				35101490		2203	4300	6503	SO:0001583	missense			AF190167	CCDS6577.1, CCDS69588.1, CCDS75830.1	9p13.1	2008-02-05			ENSG00000165283	ENSG00000165283	30968	30968			14559	protein-coding gene	gene with protein product		608292			NA	10713127, 17121834	Standard	NM_013442	NM_001287031	NA	Approved	SLP-2, HSPC108	uc003zwi.3	Q9UJZ1	OTTHUMG00000019851	ENST00000356493.5:c.512G>A	9.37:g.35101490C>T	ENSP00000348886:p.Arg171His	NA	D3DRN3|O60376|Q53G29|Q96FY2|Q9P042	37	CCDS6577.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211436	0.79240	.	.	ENSG00000165283	ENST00000356493	D	0.94723	-3.5	5.26	4.34	0.51931	.	0.176889	0.46145	D	0.000309	D	0.94066	0.8098	L	0.47016	1.485	0.80722	D	1	D	0.58970	0.984	P	0.56788	0.806	D	0.93413	0.6770	10	0.62326	D	0.03	-0.8274	8.4582	0.32912	0.1551:0.7677:0.0:0.0772	.	171	Q9UJZ1	STML2_HUMAN	H	171	ENSP00000348886:R171H	ENSP00000348886:R171H	R	-	2	0	STOML2	35091490	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.740000	0.55082	1.411000	0.46957	0.563000	0.77884	CGC	STOML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052273.1		-	ENST00000356493.5	Missense_Mutation	SNP	9 : 35101490 - 35101490 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	961	76
ZNF768	79724	broad.mit.edu	37	16	30537047	30537047	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30537047C>T	ENST00000380412.5	-	2	589	c.414G>A	c.(412-414)cgG>cgA	p.R138R	ZNF768_ENST00000562803.1_Silent_p.R107R	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	138	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						AGCCAGGGCTCCGGGGTTCAT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	60	58			NA	NA	16		NA											NA				30537047		2197	4300	6497	SO:0001819	synonymous_variant			BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957	79724	79724		Zinc fingers, C2H2-type	26273	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024671	NM_024671	NA	Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.414G>A	16.37:g.30537047C>T		NA	Q569L7|Q96CX4	37	CCDS10681.2																																																																																			ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255522.2		-	ENST00000380412.5	Silent	SNP	16 : 30537047 - 30537047 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	663	133
VPS37A	137492	broad.mit.edu	37	8	17132334	17132334	+	Nonsense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17132334T>G	ENST00000324849.4	+	5	1183	c.509T>G	c.(508-510)aTc>aGc	p.I170S	VPS37A_ENST00000521829.1_Missense_Mutation_p.I145S|VPS37A_ENST00000324815.3_Nonsense_Mutation_p.Y179*	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	170					cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		AACAGGAGTATCACTTCTTTA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	106	112			NA	NA	8		NA											NA				17132334		2203	4300	6503	SO:0001583	missense				CCDS6001.1, CCDS47811.1	8p22	2012-06-29	2006-04-04		ENSG00000155975	ENSG00000155975	137492	137492			24928	protein-coding gene	gene with protein product	hepatocellular carcinoma related protein 1	609927	vacuolar protein sorting 37A (yeast), polyglutamine binding protein 2	PQBP2	NA	15240819, 15218037, 22717650	Standard	NM_152415	NM_152415	NA	Approved	FLJ32642, HCRP1, SPG53	uc003wxj.3	Q8NEZ2	OTTHUMG00000130785	ENST00000324849.4:c.509T>G	8.37:g.17132334T>G	ENSP00000318629:p.Ile170Ser	NA	Q336D5|Q6NW27|Q8N3D7|Q8TBL7|Q96DL9	37	CCDS6001.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.87|15.87	2.959567|2.959567	0.53400|0.53400	.|.	.|.	ENSG00000155975|ENSG00000155975	ENST00000324849;ENST00000521829|ENST00000324815	T;T|.	0.54279|.	0.58;0.58|.	4.25|4.25	4.25|4.25	0.50352|0.50352	.|.	1.238420|.	0.05339|.	N|.	0.529836|.	T|.	0.24084|.	0.0583|.	N|N	0.14661|0.14661	0.345|0.345	0.21256|0.21256	N|N	0.999748|0.999748	B;B|.	0.19200|.	0.034;0.006|.	B;B|.	0.18561|.	0.022;0.01|.	T|.	0.08146|.	-1.0736|.	10|.	0.07644|0.02654	T|T	0.81|1	-2.6082|-2.6082	12.9954|12.9954	0.58644|0.58644	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	145;170|.	Q8NEZ2-2;Q8NEZ2|.	.;VP37A_HUMAN|.	S|X	170;145|179	ENSP00000318629:I170S;ENSP00000429680:I145S|.	ENSP00000318629:I170S|ENSP00000318173:Y179X	I|Y	+|+	2|3	0|2	VPS37A|VPS37A	17176705|17176705	0.959000|0.959000	0.32827|0.32827	0.050000|0.050000	0.19076|0.19076	0.793000|0.793000	0.44817|0.44817	2.537000|2.537000	0.45702|0.45702	2.154000|2.154000	0.67381|0.67381	0.472000|0.472000	0.43445|0.43445	ATC|TAT	VPS37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253301.2		+	ENST00000324849.4	Missense_Mutation	SNP	8 : 17132334 - 17132334 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	422	80
EFCAB5	374786	broad.mit.edu	37	17	28386587	28386587	+	Nonsense_Mutation	SNP	C	C	T	rs112900293		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28386587C>T	ENST00000394835.3	+	14	2797	c.2605C>T	c.(2605-2607)Cga>Tga	p.R869*	EFCAB5_ENST00000536908.2_Intron|EFCAB5_ENST00000320856.5_Intron|EFCAB5_ENST00000541045.1_Intron|EFCAB5_ENST00000378738.3_Nonsense_Mutation_p.R869*|AC104984.4_ENST00000583250.1_RNA|EFCAB5_ENST00000394832.2_Nonsense_Mutation_p.R869*	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	869	EF-hand.						calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TTTCCAAGTCCGACAGAGGCT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	115	115			NA	NA	17		NA											NA				28386587		1859	4087	5946	SO:0001587	stop_gained			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927	374786	374786		EF-hand domain containing	24801	protein-coding gene	gene with protein product					NA		Standard	NM_198529	NM_198529	NA	Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.2605C>T	17.37:g.28386587C>T	ENSP00000378312:p.Arg869*	NA	B2RPN0|Q0VD68|Q6ZRM6|Q8NDG9	37	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	C	38	6.910587	0.97928	.	.	ENSG00000176927	ENST00000394835;ENST00000394832;ENST00000378738	.	.	.	5.39	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7418	13.2178	0.59871	0.1606:0.8394:0.0:0.0	.	.	.	.	X	869	.	ENSP00000368012:R869X	R	+	1	2	EFCAB5	25410713	0.808000	0.29022	0.089000	0.20774	0.072000	0.16883	1.723000	0.38053	1.246000	0.43901	-0.538000	0.04264	CGA	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256120.4		+	ENST00000394835.3	Nonsense_Mutation	SNP	17 : 28386587 - 28386587 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	539	103
HABP2	3026	broad.mit.edu	37	10	115345621	115345621	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115345621A>C	ENST00000351270.3	+	12	1538	c.1442A>C	c.(1441-1443)cAa>cCa	p.Q481P	HABP2_ENST00000542051.1_Missense_Mutation_p.Q455P	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	481	Peptidase S1.	Cleavage (By similarity).			cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		AACTCCCGCCAACTCTATGAC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	91	98			NA	NA	10		NA											NA				115345621		2203	4300	6503	SO:0001583	missense				CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702	3026	3026			4798	protein-coding gene	gene with protein product	plasma hyaluronan binding protein, factor VII activating protein	603924	hyaluronan-binding protein 2		NA	8827452, 12437095	Standard	NM_004132	NM_004132	NA	Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.1442A>C	10.37:g.115345621A>C	ENSP00000277903:p.Gln481Pro	NA	A8K467|O00663	37	CCDS7577.1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.807505	0.31961	.	.	ENSG00000148702	ENST00000542051;ENST00000351270	D;D	0.88277	-2.36;-2.35	6.03	-4.73	0.03259	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.624330	0.02695	N	0.111065	D	0.83064	0.5173	N	0.12746	0.255	0.09310	N	1	P	0.44877	0.845	P	0.44811	0.461	T	0.73575	-0.3939	10	0.45353	T	0.12	.	16.0541	0.80782	0.6114:0.0:0.3886:0.0	.	481	Q14520	HABP2_HUMAN	P	455;481	ENSP00000443283:Q455P;ENSP00000277903:Q481P	ENSP00000277903:Q481P	Q	+	2	0	HABP2	115335611	0.000000	0.05858	0.016000	0.15963	0.202000	0.24057	-1.183000	0.03079	-0.637000	0.05516	-1.000000	0.02509	CAA	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050428.1		+	ENST00000351270.3	Missense_Mutation	SNP	10 : 115345621 - 115345621 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	72
KANSL1	284058	broad.mit.edu	37	17	44108915	44108915	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44108915G>A	ENST00000575318.1	-	13	3086	c.3053C>T	c.(3052-3054)tCg>tTg	p.S1018L	KANSL1_ENST00000574590.1_Missense_Mutation_p.S1082L|KANSL1_ENST00000262419.6_Missense_Mutation_p.S1082L|KANSL1_ENST00000572904.1_Missense_Mutation_p.S1082L|KANSL1_ENST00000432791.1_Missense_Mutation_p.S1082L|KANSL1_ENST00000393476.3_Missense_Mutation_p.S376L			Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	1082						MLL1 complex	protein binding				NA						AATGGGAGGCGAGGTGGGCGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	28	29			NA	NA	17		NA											NA				44108915		2203	4300	6503	SO:0001583	missense			BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071	284058	284058			24565	protein-coding gene	gene with protein product	centromere protein 36	612452	KIAA1267	KIAA1267	NA	10574462	Standard	NM_015443	NM_015443	NA	Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000575318.1:c.3053C>T	17.37:g.44108915G>A	ENSP00000461299:p.Ser1018Leu	NA	A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	37		.	.	.	.	.	.	.	.	.	.	G	18.60	3.658927	0.67586	.	.	ENSG00000120071	ENST00000262419;ENST00000432791;ENST00000393476	T;T;T	0.36340	2.09;2.09;1.26	5.72	4.74	0.60224	.	0.157171	0.42964	D	0.000640	T	0.44993	0.1320	L	0.27053	0.805	0.41849	D	0.990164	B;B;D;D	0.71674	0.002;0.002;0.998;0.998	B;B;D;D	0.72982	0.002;0.002;0.979;0.979	T	0.44034	-0.9354	10	0.54805	T	0.06	-3.2033	12.071	0.53616	0.0811:0.0:0.9189:0.0	.	350;413;1082;1082	B3KT49;Q7Z3B3-2;C9JHY2;Q7Z3B3	.;.;.;K1267_HUMAN	L	1082;1082;376	ENSP00000262419:S1082L;ENSP00000387393:S1082L;ENSP00000377117:S376L	ENSP00000262419:S1082L	S	-	2	0	KIAA1267	41464762	0.974000	0.33945	0.935000	0.37517	0.682000	0.39822	2.195000	0.42677	1.401000	0.46761	0.561000	0.74099	TCG	KANSL1-006	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000440272.1		-	ENST00000575318.1	Missense_Mutation	SNP	17 : 44108915 - 44108915 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	43
POLR2E	5434	broad.mit.edu	37	19	1093977	1093977	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1093977G>A	ENST00000215587.7	-	2	441	c.158C>T	c.(157-159)cCg>cTg	p.P53L	POLR2E_ENST00000586746.1_Missense_Mutation_p.P53L			P19388	RPAB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide E, 25kDa	53					interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGCGCCGCGGCCGCCCCTC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	36	38			NA	NA	19		NA											NA				1093977		2202	4300	6502	SO:0001583	missense				CCDS12056.1	19p13.3	2013-01-21	2002-08-29			ENSG00000099817	5434	5434		RNA polymerase subunits	9192	protein-coding gene	gene with protein product	DNA directed RNA polymerase II 23 kda polypeptide	180664	polymerase (RNA) II (DNA directed) polypeptide E (25kD)		NA	8034326	Standard	NM_002695	NM_002695	NA	Approved	RPB5, RPABC1, XAP4, hRPB25, hsRPB5	uc002lre.4	P19388		ENST00000215587.7:c.158C>T	19.37:g.1093977G>A	ENSP00000215587:p.Pro53Leu	NA	B2R6L4|D6W5Y1|O43380|Q6PIH5|Q9BT06	37	CCDS12056.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466162	0.84425	.	.	ENSG00000099817	ENST00000215587	T	0.43688	0.94	3.64	3.64	0.41730	RNA polymerase, Rpb5, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.58524	0.2128	M	0.78285	2.405	0.80722	D	1	D	0.63880	0.993	P	0.58210	0.835	T	0.62148	-0.6915	10	0.36615	T	0.2	-7.8213	14.4829	0.67594	0.0:0.0:1.0:0.0	.	53	P19388	RPAB1_HUMAN	L	53	ENSP00000215587:P53L	ENSP00000215587:P53L	P	-	2	0	POLR2E	1044977	1.000000	0.71417	0.934000	0.37439	0.915000	0.54546	6.883000	0.75595	1.884000	0.54569	0.511000	0.50034	CCG	POLR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458044.1		-	ENST00000215587.7	Missense_Mutation	SNP	19 : 1093977 - 1093977 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	237	40
TNXB	7148	broad.mit.edu	37	6	32052335	32052335	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32052335G>A	ENST00000375244.3	-	8	3501	c.3300C>T	c.(3298-3300)gaC>gaT	p.D1100D	TNXB_ENST00000375247.2_Silent_p.D1100D			P22105	TENX_HUMAN	tenascin XB	1187	Fibronectin type-III 3.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGGCTGCCCGTCCCTGTCTT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	38	36			NA	NA	6		NA											NA				32052335		1347	2574	3921	SO:0001819	synonymous_variant			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477	7148	7148		Fibrinogen C domain containing, Fibronectin type III domain containing	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2	NA	8530023	Standard	NM_019105	NM_019105	NA	Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.3300C>T	6.37:g.32052335G>A		NA	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	37																																																																																				TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000268927.2		-	ENST00000375244.3	Silent	SNP	6 : 32052335 - 32052335 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	175	17
FNDC3A	22862	broad.mit.edu	37	13	49772216	49772216	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49772216C>T	ENST00000492622.2	+	22	2894	c.2589C>T	c.(2587-2589)agC>agT	p.S863S	FNDC3A_ENST00000398316.3_Silent_p.S807S|FNDC3A_ENST00000541916.1_Silent_p.S863S	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	863	Fibronectin type-III 7.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		AAGAAATAAGCGATGATGAGA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	0,4406		0,0,2203	126	117	120		2589,2421	2	1	13		120	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FNDC3A	NM_001079673.1,NM_014923.3	,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,	863/1199,807/1143	49772216	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531	22862	22862		Fibronectin type III domain containing	20296	protein-coding gene	gene with protein product		615794	fibronectin type III domain containing 3	FNDC3	NA		Standard	NM_014923	NM_001079673	NA	Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.2589C>T	13.37:g.49772216C>T		NA	B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	37	CCDS41886.1																																																																																			FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354845.2		+	ENST00000492622.2	Silent	SNP	13 : 49772216 - 49772216 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	566	86
RGPD3	653489	broad.mit.edu	37	2	107040937	107040937	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:107040937C>T	ENST00000409886.3	-	20	3573	c.3486G>A	c.(3484-3486)caG>caA	p.Q1162Q	RGPD3_ENST00000304514.7_Silent_p.Q1162Q	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1162	RanBD1 1.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CCTCAAATTTCTGCTTGAATT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													2	2	2			NA	NA	2		NA											NA				107040937		502	1160	1662	SO:0001819	synonymous_variant				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165	653489	653489		Tetratricopeptide (TTC) repeat domain containing	32416	protein-coding gene	gene with protein product		612706			NA	15710750, 15815621	Standard	XM_929931	NM_001144013	NA	Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.3486G>A	2.37:g.107040937C>T		NA	B8ZZM4	37	CCDS46379.1																																																																																			RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329975.1		-	ENST00000409886.3	Silent	SNP	2 : 107040937 - 107040937 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	548	114
TTN	7273	broad.mit.edu	37	2	179469867	179469867	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179469867C>T	ENST00000589042.1	-	280	54261	c.54037G>A	c.(54037-54039)Gca>Aca	p.A18013T	TTN_ENST00000591111.1_Missense_Mutation_p.A16372T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A9073T|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A8948T|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A15445T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A9140T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16372	Fibronectin type-III 30.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTGAAGTGCATCAGTGGGT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	125	128			NA	NA	2		NA											NA				179469867		1874	4102	5976	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.54037G>A	2.37:g.179469867C>T	ENSP00000467141:p.Ala18013Thr	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.226034	0.39300	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.74	4.86	0.63082	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.29945	0.0749	N	0.13003	0.285	0.35599	D	0.807743	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.08055	0.003;0.003;0.003;0.003	T	0.28459	-1.0043	9	0.87932	D	0	.	15.2041	0.73165	0.0:0.9315:0.0:0.0685	.	8948;9073;9140;16372	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	15445;8948;9140;9073;8948	ENSP00000343764:A15445T;ENSP00000434586:A8948T;ENSP00000340554:A9140T;ENSP00000352154:A9073T	ENSP00000340554:A9140T	A	-	1	0	TTN	179178112	0.998000	0.40836	0.956000	0.39512	0.934000	0.57294	2.314000	0.43743	1.400000	0.46741	0.563000	0.77884	GCA	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179469867 - 179469867 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	420	58
MAU2	23383	broad.mit.edu	37	19	19454678	19454678	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19454678C>T	ENST00000392313.6	+	10	1185	c.1006C>T	c.(1006-1008)Caa>Taa	p.Q336*	MAU2_ENST00000262815.8_Nonsense_Mutation_p.Q336*	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	NA					cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						GTCATCCTTCCAAGTGATCCT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	108	108			NA	NA	19		NA											NA				19454678		2130	4244	6374	SO:0001587	stop_gained			AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933	23383	23383			29140	protein-coding gene	gene with protein product	sister chromatid cohesion 4	614560	KIAA0892, MAU2 chromatid cohesion factor homolog (C. elegans)	KIAA0892	NA	10048485	Standard	NM_015329	NM_015329	NA	Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.1006C>T	19.37:g.19454678C>T	ENSP00000376127:p.Gln336*	NA	Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	37	CCDS32969.2	.	.	.	.	.	.	.	.	.	.	C	38	7.116730	0.98074	.	.	ENSG00000129933	ENST00000392313;ENST00000262815	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	17.3016	0.87183	0.0:1.0:0.0:0.0	.	.	.	.	X	336	.	ENSP00000262815:Q336X	Q	+	1	0	MAU2	19315678	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.475000	0.81041	2.435000	0.82474	0.561000	0.74099	CAA	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316748.6		+	ENST00000392313.6	Nonsense_Mutation	SNP	19 : 19454678 - 19454678 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	916	189
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18767552	18767552	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:18767552C>A	ENST00000532967.1	-	4	499	c.406G>T	c.(406-408)Gat>Tat	p.D136Y	NT5C1B_ENST00000600945.1_Missense_Mutation_p.D136Y|NT5C1B_ENST00000359846.2_Missense_Mutation_p.D136Y|NT5C1B_ENST00000304081.4_Missense_Mutation_p.D76Y|NT5C1B_ENST00000460052.1_5'UTR	NM_001199104.1	NP_001186033.1	Q96P26	5NT1B_HUMAN	NT5C1B-RDH14 readthrough	136	Ser-rich.				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding				NA						CTAGGCTCATCTATGGATGGA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	140	144			NA	NA	2		NA											NA				18767552		2203	4300	6503	SO:0001583	missense				CCDS56111.1	2p24.2	2011-02-21			ENSG00000250741	ENSG00000250741	100526794	100526794			38831	other	readthrough					NA		Standard	NM_001199103.1	NM_001199103	NA	Approved		uc010exr.3		OTTHUMG00000161546	ENST00000532967.1:c.406G>T	2.37:g.18767552C>A	ENSP00000433415:p.Asp136Tyr	NA	B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	37	CCDS56111.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.748697	0.30955	.	.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846;ENST00000416783	D	0.91180	-2.8	4.47	4.47	0.54385	.	1.133610	0.06481	N	0.732866	D	0.92586	0.7645	L	0.29908	0.895	0.09310	N	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.971;0.999;1.0;1.0	D;D;P;D;P;D;D;D	0.71184	0.959;0.959;0.87;0.959;0.62;0.939;0.937;0.972	D	0.84068	0.0378	10	0.87932	D	0	-0.7314	12.9491	0.58389	0.0:1.0:0.0:0.0	.	119;153;76;119;76;76;136;136	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;5NT1B_HUMAN;.	Y	136;76;76;136;153	ENSP00000412639:D76Y	ENSP00000305979:D76Y	D	-	1	0	NT5C1B-RDH14;NT5C1B	18631033	0.232000	0.23762	0.034000	0.17996	0.028000	0.11728	3.018000	0.49625	2.777000	0.95525	0.655000	0.94253	GAT	NT5C1B-RDH14-002	KNOWN	basic|appris_principal|readthrough_transcript|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323823.1		-	ENST00000532967.1	Missense_Mutation	SNP	2 : 18767552 - 18767552 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	609	156
C11orf88	399949	broad.mit.edu	37	11	111385713	111385713	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111385713G>T	ENST00000529167.1	+	1	204	c.204G>T	c.(202-204)cgG>cgT	p.R68R	C11orf88_ENST00000332814.6_Silent_p.R68R|RP11-794P6.6_ENST00000530283.1_RNA|C11orf88_ENST00000375618.4_Silent_p.R68R			Q6PI97	CK088_HUMAN	chromosome 11 open reading frame 88	68										endometrium(1)|large_intestine(3)|lung(2)	6						CGGTGGCGCGGCCCAGGAGGA	0.602		NA									OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	42	40			NA	NA	11		NA											NA				111385713		2152	4277	6429	SO:0001819	synonymous_variant			BC039505, AK128145	CCDS41712.1, CCDS41713.1	11q23.1	2012-08-10			ENSG00000183644	ENSG00000183644	399949	399949			25061	protein-coding gene	gene with protein product	hypothetical gene supported by BC039505				NA	12477932	Standard	NM_001100388	NM_001100388	NA	Approved	FLJ46266	uc009yyd.3	Q6PI97	OTTHUMG00000166720	ENST00000529167.1:c.204G>T	11.37:g.111385713G>T		1434	Q6ZRL3	37																																																																																				C11orf88-002	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000391182.1		+	ENST00000529167.1	Silent	SNP	11 : 111385713 - 111385713 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	288	59
AFF3	3899	broad.mit.edu	37	2	100453987	100453987	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100453987C>A	ENST00000409236.2	-	6	986		c.e6-1		AFF3_ENST00000317233.4_Splice_Site|AFF3_ENST00000356421.2_Splice_Site|AFF3_ENST00000409579.1_Splice_Site			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	NA					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						ATCTACTCTCCTGAAAGCAAA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	66	65			NA	NA	2		NA											NA				100453987		2202	4300	6502	SO:0001630	splice_region_variant			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218	3899	3899			6473	protein-coding gene	gene with protein product		601464	lymphoid nuclear protein related to AF4	LAF4	NA	8662235, 8555498	Standard	NM_002285	XM_005263945	NA	Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.874-1G>T	2.37:g.100453987C>A		NA	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	37	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561482	0.65538	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	.	.	.	4.46	4.46	0.54185	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.787	0.57512	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AFF3	99820419	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.194000	0.58393	2.450000	0.82876	0.650000	0.86243	.	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328982.3	Intron	-	ENST00000409236.2	Splice_Site	SNP	2 : 100453987 - 100453987 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	377	26
CNOT3	4849	broad.mit.edu	37	19	54659086	54659086	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54659086C>T	ENST00000406403.1	+	17	3806	c.2203C>T	c.(2203-2205)Cgg>Tgg	p.R735W	CNOT3_ENST00000221232.5_Missense_Mutation_p.R735W|LENG1_ENST00000222224.3_3'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	735					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GTGGGGCCAGCGGAAGAAGGA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	67	73			NA	NA	19		NA											NA				54659086		2203	4300	6503	SO:0001583	missense			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038	4849	4849			7879	protein-coding gene	gene with protein product	NOT3 (negative regulator of transcription 3, yeast) homolog	604910		NOT3	NA	10637334, 9734811	Standard	NM_014516	NM_014516	NA	Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.2203C>T	19.37:g.54659086C>T	ENSP00000383954:p.Arg735Trp	NA	Q9NZN7|Q9UF76	37	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.906876	0.72868	.	.	ENSG00000088038	ENST00000221232;ENST00000406403;ENST00000471126	T;T;T	0.49720	0.77;0.77;0.77	4.77	1.38	0.22167	NOT2/NOT3/NOT5 (1);	0.141024	0.42821	D	0.000656	T	0.54775	0.1879	H	0.95437	3.67	0.80722	D	1	B	0.18310	0.027	B	0.17722	0.019	T	0.55541	-0.8125	10	0.87932	D	0	-20.1511	5.2967	0.15756	0.2816:0.562:0.0:0.1564	.	735	O75175	CNOT3_HUMAN	W	735;735;70	ENSP00000221232:R735W;ENSP00000383954:R735W;ENSP00000420064:R70W	ENSP00000221232:R735W	R	+	1	2	CNOT3	59350898	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	1.468000	0.35332	0.312000	0.23038	0.561000	0.74099	CGG	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000142130.3		+	ENST00000406403.1	Missense_Mutation	SNP	19 : 54659086 - 54659086 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	138	17
TLE6	79816	broad.mit.edu	37	19	2987962	2987962	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2987962G>A	ENST00000246112.4	+	10	893	c.692G>A	c.(691-693)gGt>gAt	p.G231D	TLE6_ENST00000478073.2_3'UTR|TLE6_ENST00000452088.1_Missense_Mutation_p.G108D	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6	108					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				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)		ACAAGTTGGGGTGTGGTCCAG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	32	32			NA	NA	19		NA											NA				2987962		2203	4300	6503	SO:0001583	missense			AK024071	CCDS12100.1, CCDS45910.1	19p13.3	2014-03-07	2014-03-07		ENSG00000104953	ENSG00000104953	79816	79816		WD repeat domain containing	30788	protein-coding gene	gene with protein product		612399	transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)		NA	11486032	Standard	NM_024760	NM_024760	NA	Approved	FLJ14009, GRG6	uc002lwt.2	Q9H808	OTTHUMG00000156793	ENST00000246112.4:c.692G>A	19.37:g.2987962G>A	ENSP00000246112:p.Gly231Asp	NA		37	CCDS45910.1	.	.	.	.	.	.	.	.	.	.	G	9.908	1.208681	0.22205	.	.	ENSG00000104953	ENST00000447920;ENST00000246112;ENST00000452088;ENST00000441927	T;T	0.19105	2.17;2.21	2.64	-5.2	0.02823	.	.	.	.	.	T	0.09992	0.0245	L	0.27053	0.805	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.10450	0.003;0.002;0.005	T	0.32693	-0.9897	9	0.34782	T	0.22	1.4638	0.8575	0.01186	0.455:0.1661:0.2125:0.1665	.	231;108;108	C9JGZ7;Q9H808;Q6PJM9	.;TLE6_HUMAN;.	D	231;231;108;108	ENSP00000246112:G231D;ENSP00000406893:G108D	ENSP00000246112:G231D	G	+	2	0	TLE6	2938962	0.000000	0.05858	0.000000	0.03702	0.174000	0.22865	-0.268000	0.08607	-1.113000	0.02981	0.449000	0.29647	GGT	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345996.3		+	ENST00000246112.4	Missense_Mutation	SNP	19 : 2987962 - 2987962 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	135	13
PPP1R3A	5506	broad.mit.edu	37	7	113522121	113522121	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:113522121T>C	ENST00000284601.3	-	3	1007	c.939A>G	c.(937-939)gaA>gaG	p.E313E		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	313					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTCATTATGTTCATCATGTT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													248	199	215			NA	NA	7		NA											NA				113522121		2203	4300	6503	SO:0001819	synonymous_variant			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	5506	5506	3.1.3.16	Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	9291	protein-coding gene	gene with protein product	glycogen-associated regulatory subunit of protein phosphatase-1, protein phosphatase 1 regulatory subunit GM	600917	protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle), protein phosphatase 1, regulatory (inhibitor) subunit 3A	PPP1R3	NA	7926294	Standard	NM_002711	NM_002711	NA	Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.939A>G	7.37:g.113522121T>C		NA	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	37	CCDS5759.1																																																																																			PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346724.1		-	ENST00000284601.3	Silent	SNP	7 : 113522121 - 113522121 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	537	34
BAI3	577	broad.mit.edu	37	6	70070821	70070821	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70070821T>G	ENST00000370598.1	+	29	4477	c.3656T>G	c.(3655-3657)aTt>aGt	p.I1219S	BAI3_ENST00000546190.1_Missense_Mutation_p.I183S|BAI3_ENST00000238918.8_Missense_Mutation_p.I425S	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1219					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CTTTCTAGGATTTCTCTAAAT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	87	87			NA	NA	6		NA											NA				70070821		2203	4300	6503	SO:0001583	missense			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298	577	577		-, GPCR / Class B : Orphans	945	protein-coding gene	gene with protein product		602684			NA	9533023	Standard		NM_001704	NA	Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3656T>G	6.37:g.70070821T>G	ENSP00000359630:p.Ile1219Ser	NA	O60297|Q2NKN6|Q5VY37|Q9BX54	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.932263	0.73442	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.47177	2.02;2.63;0.85	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.40297	0.1111	L	0.37630	1.12	0.58432	D	0.999999	D;D	0.76494	0.995;0.999	D;D	0.72982	0.979;0.915	T	0.41627	-0.9498	10	0.02654	T	1	.	15.8023	0.78463	0.0:0.0:0.0:1.0	.	425;1219	B7Z356;O60242	.;BAI3_HUMAN	S	1219;425;183	ENSP00000359630:I1219S;ENSP00000238918:I425S;ENSP00000441821:I183S	ENSP00000238918:I425S	I	+	2	0	BAI3	70127542	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.698000	0.84413	2.126000	0.65437	0.482000	0.46254	ATT	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041120.1		+	ENST00000370598.1	Missense_Mutation	SNP	6 : 70070821 - 70070821 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	513	77
OTX2	5015	broad.mit.edu	37	14	57272168	57272168	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:57272168A>G	ENST00000339475.5	-	3	283	c.7T>C	c.(7-9)Tct>Cct	p.S3P	OTX2_ENST00000408990.3_Missense_Mutation_p.S3P|OTX2_ENST00000554788.1_Missense_Mutation_p.S3P|OTX2_ENST00000555006.1_Missense_Mutation_p.S3P|OTX2_ENST00000554559.1_Missense_Mutation_p.S3P	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	3					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					TTAAGATAAGACATCATGCTA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	102	108			NA	NA	14		NA											NA				57272168		2203	4300	6503	SO:0001583	missense			AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588	5015	5015		Homeoboxes / PRD class	8522	protein-coding gene	gene with protein product		600037	orthodenticle homolog 2 (Drosophila)		NA	7959790	Standard	NM_021728.	NM_021728	NA	Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000339475.5:c.7T>C	14.37:g.57272168A>G	ENSP00000343819:p.Ser3Pro	NA	B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	37	CCDS9728.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.028134	0.75390	.	.	ENSG00000165588	ENST00000339475;ENST00000408990;ENST00000555006;ENST00000554845;ENST00000554559;ENST00000555804	D;D;D;D;D	0.92545	-2.94;-2.88;-2.88;-3.06;-3.02	4.35	4.35	0.52113	.	0.000000	0.42294	D	0.000724	D	0.94308	0.8171	M	0.71296	2.17	0.41365	D	0.987455	D;D	0.60160	0.987;0.986	P;P	0.60949	0.828;0.881	D	0.94798	0.7968	10	0.87932	D	0	.	11.81	0.52177	1.0:0.0:0.0:0.0	.	3;3	F1T0D1;P32243	.;OTX2_HUMAN	P	3	ENSP00000343819:S3P;ENSP00000386185:S3P;ENSP00000452336:S3P;ENSP00000451357:S3P;ENSP00000451272:S3P	ENSP00000343819:S3P	S	-	1	0	OTX2	56341921	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.559000	0.90708	1.947000	0.56498	0.528000	0.53228	TCT	OTX2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276926.3		-	ENST00000339475.5	Missense_Mutation	SNP	14 : 57272168 - 57272168 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	151	26
HECW2	57520	broad.mit.edu	37	2	197157417	197157417	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197157417G>A	ENST00000409111.1	-	12	2818	c.1804C>T	c.(1804-1806)Cgg>Tgg	p.R602W	HECW2_ENST00000260983.3_Missense_Mutation_p.R958W			Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	958					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GTGTCCCTCCGGACTTTGGTG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	103	112			NA	NA	2		NA											NA				197157417		2203	4300	6503	SO:0001583	missense			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411	57520	57520			29853	protein-coding gene	gene with protein product					NA	10718198, 12890487	Standard	NM_020760	NM_020760	NA	Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000409111.1:c.1804C>T	2.37:g.197157417G>A	ENSP00000386775:p.Arg602Trp	NA	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	37		.	.	.	.	.	.	.	.	.	.	G	26.8	4.771237	0.90108	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	D;D	0.85339	-1.97;-1.97	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.91099	0.7198	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.91818	0.5465	10	0.87932	D	0	.	18.5859	0.91189	0.0:0.0:1.0:0.0	.	958	Q9P2P5	HECW2_HUMAN	W	602;958	ENSP00000386775:R602W;ENSP00000260983:R958W	ENSP00000260983:R958W	R	-	1	2	HECW2	196865662	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	9.238000	0.95380	2.617000	0.88574	0.655000	0.94253	CGG	HECW2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000335314.2		-	ENST00000409111.1	Missense_Mutation	SNP	2 : 197157417 - 197157417 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	56
NDUFB4	4710	broad.mit.edu	37	3	120315332	120315332	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120315332G>A	ENST00000485064.1	+	1	158	c.126G>A	c.(124-126)caG>caA	p.Q42Q	NDUFB4_ENST00000492739.1_Silent_p.Q42Q|NDUFB4_ENST00000184266.2_Silent_p.Q42Q	NM_001168331.1	NP_001161803.1	O95168	NDUB4_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa	42					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|large_intestine(1)|lung(3)	5				GBM - Glioblastoma multiforme(114;0.14)	NADH(DB00157)	TAAGAGCCCAGCTGAAACGAG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	29	29			NA	NA	3		NA											NA				120315332		2203	4296	6499	SO:0001819	synonymous_variant			AF044957	CCDS2999.1, CCDS54630.1	3q13.33	2011-07-04	2002-08-29		ENSG00000065518	ENSG00000065518	4710	4710		Mitochondrial respiratory chain complex / Complex I	7699	protein-coding gene	gene with protein product	complex I B15 subunit	603840	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4 (15kD, B15)		NA	9878551	Standard	NM_004547	NM_004547	NA	Approved	B15	uc003edu.3	O95168	OTTHUMG00000159442	ENST00000485064.1:c.126G>A	3.37:g.120315332G>A		NA	B9EJC7	37	CCDS54630.1																																																																																			NDUFB4-002	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355421.1		+	ENST00000485064.1	Silent	SNP	3 : 120315332 - 120315332 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	147	24
TNC	3371	broad.mit.edu	37	9	117846513	117846513	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117846513A>C	ENST00000341037.4	-	3	2234	c.2106T>G	c.(2104-2106)atT>atG	p.I702M	TNC_ENST00000537320.1_Missense_Mutation_p.I702M|TNC_ENST00000346706.3_Missense_Mutation_p.I702M|TNC_ENST00000340094.3_Missense_Mutation_p.I702M|TNC_ENST00000345230.3_Missense_Mutation_p.I702M|TNC_ENST00000542877.1_Missense_Mutation_p.I702M|TNC_ENST00000423613.2_Missense_Mutation_p.I702M|TNC_ENST00000535648.1_Missense_Mutation_p.I702M|TNC_ENST00000350763.4_Missense_Mutation_p.I702M			P24821	TENA_HUMAN	tenascin C	702	Fibronectin type-III 1.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CGCTGACAGGAATGCTCTTCT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	84	86			NA	NA	9		NA											NA				117846513		2203	4300	6503	SO:0001583	missense				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982	3371	3371		Fibrinogen C domain containing, Fibronectin type III domain containing	5318	protein-coding gene	gene with protein product	hexabrachion (tenascin)	187380	hexabrachion (tenascin C, cytotactin), deafness, autosomal dominant 56	HXB, DFNA56	NA	1704365, 1707164, 23936043	Standard	NM_002160	NM_002160	NA	Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000341037.4:c.2106T>G	9.37:g.117846513A>C	ENSP00000339553:p.Ile702Met	NA	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	37		.	.	.	.	.	.	.	.	.	.	A	17.48	3.399001	0.62177	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.53857	3.62;0.6;3.62;0.6;0.6;0.6;0.6;0.6;0.6	5.93	0.837	0.18896	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.148317	0.64402	D	0.000010	T	0.64692	0.2621	M	0.63428	1.95	0.47308	D	0.999389	D;D	0.71674	0.998;0.996	D;D	0.76575	0.988;0.988	T	0.63492	-0.6625	10	0.62326	D	0.03	.	10.121	0.42621	0.6001:0.0:0.3999:0.0	.	702;702	E9PC84;P24821	.;TENA_HUMAN	M	702	ENSP00000344400:I702M;ENSP00000438152:I702M;ENSP00000344555:I702M;ENSP00000345861:I702M;ENSP00000265131:I702M;ENSP00000339553:I702M;ENSP00000411406:I702M;ENSP00000443478:I702M;ENSP00000442242:I702M	ENSP00000344400:I702M	I	-	3	3	TNC	116886334	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	0.856000	0.27818	0.146000	0.19002	0.533000	0.62120	ATT	TNC-011	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000397659.2		-	ENST00000341037.4	Missense_Mutation	SNP	9 : 117846513 - 117846513 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	416	64
TCIRG1	10312	broad.mit.edu	37	11	67816688	67816688	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67816688G>T	ENST00000265686.3	+	15	1922	c.1814G>T	c.(1813-1815)aGc>aTc	p.S605I	TCIRG1_ENST00000532635.1_Missense_Mutation_p.S389I	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	605					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						TCGGCCCCCAGCATCCTCATC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	87	89			NA	NA	11		NA											NA				67816688		2199	4294	6493	SO:0001583	missense			AF025374	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719	10312	10312		ATPases / V-type	11647	protein-coding gene	gene with protein product	T-cell immune response cDNA 7	604592	T-cell, immune regulator 1, T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3, T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3		NA	8579597, 9806637	Standard	NM_006019	NM_006019	NA	Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	Q13488	OTTHUMG00000167358	ENST00000265686.3:c.1814G>T	11.37:g.67816688G>T	ENSP00000265686:p.Ser605Ile	NA	O75877|Q8WVC5	37	CCDS8177.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797545	0.90538	.	.	ENSG00000110719	ENST00000265686;ENST00000532635	D;D	0.86164	-2.08;-2.08	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	D	0.95227	0.8452	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96547	0.9405	10	0.87932	D	0	-40.002	16.0297	0.80570	0.0:0.0:1.0:0.0	.	605	Q13488	VPP3_HUMAN	I	605;389	ENSP00000265686:S605I;ENSP00000434407:S389I	ENSP00000265686:S605I	S	+	2	0	TCIRG1	67573264	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.553000	0.98118	2.350000	0.79820	0.555000	0.69702	AGC	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394305.1		+	ENST00000265686.3	Missense_Mutation	SNP	11 : 67816688 - 67816688 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	800	144
PHF3	23469	broad.mit.edu	37	6	64410340	64410340	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64410340G>A	ENST00000262043.3	+	9	3423	c.3083G>A	c.(3082-3084)cGa>cAa	p.R1028Q	PHF3_ENST00000393387.1_Missense_Mutation_p.R1028Q			Q92576	PHF3_HUMAN	PHD finger protein 3	1028	TFIIS central.				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GCTTGGAGACGAAGAGAAAAC	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(135;136 1820 29512 34071 46235)							NA				0													61	63	62			NA	NA	6		NA											NA				64410340		2203	4298	6501	SO:0001583	missense			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482	23469	23469		Zinc fingers, PHD-type	8921	protein-coding gene	gene with protein product		607789			NA	11856869	Standard		XM_005248701	NA	Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.3083G>A	6.37:g.64410340G>A	ENSP00000262043:p.Arg1028Gln	NA	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	37	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554481	0.65425	.	.	ENSG00000118482	ENST00000506783;ENST00000515594;ENST00000262043;ENST00000393387	T;T;T;T	0.40225	2.32;1.04;2.35;2.35	5.26	5.26	0.73747	Transcription elongation factor S-IIM (1);Transcription elongation factor S-II, central domain (2);	0.000000	0.30410	N	0.009690	T	0.05823	0.0152	N	0.01631	-0.79	0.35713	D	0.816557	B	0.21147	0.052	B	0.15870	0.014	T	0.27806	-1.0063	10	0.17832	T	0.49	-8.7725	6.8689	0.24108	0.2167:0.0:0.7833:0.0	.	1028	Q92576	PHF3_HUMAN	Q	842;297;1028;1028	ENSP00000424694:R842Q;ENSP00000425338:R297Q;ENSP00000262043:R1028Q;ENSP00000377048:R1028Q	ENSP00000262043:R1028Q	R	+	2	0	PHF3	64468299	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.478000	0.60230	2.456000	0.83038	0.467000	0.42956	CGA	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041086.2		+	ENST00000262043.3	Missense_Mutation	SNP	6 : 64410340 - 64410340 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	386	38
OR2K2	26248	broad.mit.edu	37	9	114090586	114090586	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114090586C>A	ENST00000302681.1	-	1	127	c.128G>T	c.(127-129)aGc>aTc	p.S43I	OR2K2_ENST00000374428.1_Missense_Mutation_p.S72I	NM_205859.1	NP_995581.1	Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						AATAAGAGTGCTGTTGCCCAA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	88	88			NA	NA	9		NA											NA				114090586		2203	4300	6503	SO:0001583	missense			X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133	26248	26248		GPCR / Class A : Olfactory receptors	8264	protein-coding gene	gene with protein product				OR2AR1P	NA	1370859, 17010214	Standard	NM_205859	NM_205859	NA	Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000302681.1:c.128G>T	9.37:g.114090586C>A	ENSP00000305055:p.Ser43Ile	NA	Q2TA61|Q5VYK4|Q6IFI5	37	CCDS6778.1	.	.	.	.	.	.	.	.	.	.	C	8.015	0.758465	0.15846	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.00446	7.39;7.39	4.55	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.138117	0.32518	U	0.005981	T	0.00271	0.0008	N	0.25992	0.78	0.09310	N	1	B	0.15473	0.013	B	0.09377	0.004	T	0.33929	-0.9849	10	0.13108	T	0.6	.	12.0495	0.53500	0.1737:0.8263:0.0:0.0	.	72	Q8NGT1	OR2K2_HUMAN	I	43;72	ENSP00000305055:S43I;ENSP00000363550:S72I	ENSP00000305055:S43I	S	-	2	0	OR2K2	113130407	0.000000	0.05858	0.885000	0.34714	0.815000	0.46073	-0.163000	0.09997	1.253000	0.44018	0.650000	0.86243	AGC	OR2K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053636.1		-	ENST00000302681.1	Missense_Mutation	SNP	9 : 114090586 - 114090586 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	476	86
ERCC6	2074	broad.mit.edu	37	10	50678905	50678905	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50678905C>T	ENST00000355832.5	-	18	3179	c.3101G>A	c.(3100-3102)tGc>tAc	p.C1034Y	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Missense_Mutation_p.C404Y	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1034					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTTTAGATGGCATTTGGGTGT	0.368		NA						Direct reversal of damage;Nucleotide excision repair (NER)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	123	122			NA	NA	10		NA											NA				50678905		2203	4300	6503	SO:0001583	missense			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830	2074	2074			3438	protein-coding gene	gene with protein product	Cockayne syndrome B protein	609413	excision repair cross-complementing rodent repair deficiency, complementation group 6	CKN2	NA	1339317, 19179336	Standard	NM_000124	NM_000124	NA	Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.3101G>A	10.37:g.50678905C>T	ENSP00000348089:p.Cys1034Tyr	NA	D3DX94|Q5W0L9	37	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.506884	0.00992	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;T	0.82167	-1.58;-1.32	5.95	0.313	0.15842	.	.	.	.	.	T	0.66268	0.2772	N	0.19112	0.55	0.09310	N	0.999996	B;B	0.16802	0.016;0.019	B;B	0.09377	0.002;0.004	T	0.50092	-0.8868	9	0.27785	T	0.31	0.0041	4.9369	0.13944	0.1424:0.4866:0.0:0.371	.	1034;411	Q03468;Q59FF6	ERCC6_HUMAN;.	Y	1034;411;404	ENSP00000348089:C1034Y;ENSP00000445134:C404Y	ENSP00000348089:C1034Y	C	-	2	0	ERCC6	50348911	0.524000	0.26282	0.194000	0.23346	0.516000	0.34256	-0.170000	0.09897	0.126000	0.18424	0.655000	0.94253	TGC	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047990.1		-	ENST00000355832.5	Missense_Mutation	SNP	10 : 50678905 - 50678905 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	858	138
PSG8	440533	broad.mit.edu	37	19	43359721	43359721	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43359721C>T	ENST00000401467.2	-	1	122	c.51G>A	c.(49-51)ggG>ggA	p.G17G	PSG10P_ENST00000597171.1_RNA			Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	17						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TGAGCAGGACCCCCTTCCATT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001819	synonymous_variant			M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467	NA	440533		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	9525	protein-coding gene	gene with protein product		176397			NA	1672663, 1572651	Standard		NM_182707	NA	Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000401467.2:c.51G>A	19.37:g.43359721C>T		NA	B2RPL4|B4DTI6|O60410|Q68CR6	37																																																																																				PSG8-009	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000464525.1		-	ENST00000401467.2	Silent	SNP	19 : 43359721 - 43359721 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	759	36
FARSB	10056	broad.mit.edu	37	2	223496342	223496342	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:223496342G>A	ENST00000281828.6	-	8	1030	c.767C>T	c.(766-768)aCg>aTg	p.T256M	FARSB_ENST00000536361.1_Missense_Mutation_p.T157M	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	256					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding	p.T256M(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	GTCAGTTCCCGTGCATTCAAT	0.299		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)											66	73	71			NA	NA	2		NA											NA				223496342		2203	4298	6501	SO:0001583	missense			AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	10056	10056	6.1.1.20	Aminoacyl tRNA synthetases / Class II	17800	protein-coding gene	gene with protein product	phenylalanine tRNA ligase 1, beta, cytoplasmic	609690	phenylalanyl-tRNA synthetase-like, beta subunit	FARSLB	NA	10049785	Standard	NM_005687	NM_005687	NA	Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.767C>T	2.37:g.223496342G>A	ENSP00000281828:p.Thr256Met	NA	O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	37	CCDS2454.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818072	0.71028	.	.	ENSG00000116120	ENST00000281828;ENST00000536361	T;T	0.32515	1.45;1.45	5.35	5.35	0.76521	B3/B4 tRNA-binding domain (2);Phenylalanyl-tRNA synthetase, B3/B4 (1);	0.046696	0.85682	D	0.000000	T	0.73140	0.3549	H	0.98754	4.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.973	D	0.85097	0.0955	10	0.87932	D	0	-11.8711	17.3077	0.87199	0.0:0.0:1.0:0.0	.	256;256	A8K666;Q9NSD9	.;SYFB_HUMAN	M	256;157	ENSP00000281828:T256M;ENSP00000442950:T157M	ENSP00000281828:T256M	T	-	2	0	FARSB	223204586	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	7.814000	0.86154	2.502000	0.84385	0.585000	0.79938	ACG	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256855.2		-	ENST00000281828.6	Missense_Mutation	SNP	2 : 223496342 - 223496342 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	475	103
MAGI1	9223	broad.mit.edu	37	3	65479270	65479270	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:65479270C>T	ENST00000497477.2	-	3	466	c.467G>A	c.(466-468)gGc>gAc	p.G156D	MAGI1_ENST00000402939.2_Missense_Mutation_p.G156D|MAGI1_ENST00000483466.1_Missense_Mutation_p.G156D|MAGI1_ENST00000330909.8_Missense_Mutation_p.G156D|MAGI1_ENST00000470990.1_5'UTR			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	156	Guanylate kinase-like.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		ATAGTCCACGCCAGGCACTTC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	74	77			NA	NA	3		NA											NA				65479270		2203	4300	6503	SO:0001583	missense			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276	9223	9223			946	protein-coding gene	gene with protein product		602625	BAI1-associated protein 1	BAIAP1	NA	9647739, 9225980	Standard	NM_004742	XM_005265563	NA	Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.467G>A	3.37:g.65479270C>T	ENSP00000424369:p.Gly156Asp	NA	O00309|O43863|O75085|Q96QZ8|Q96QZ9	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.4|29.4	5.007034|5.007034	0.93287|0.93287	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000460329|ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477	.|T;T;T;T;T	.|0.76968	.|-1.06;-1.06;-1.06;-1.06;-1.06	5.9|5.9	5.9|5.9	0.94986|0.94986	.|Guanylate kinase/L-type calcium channel (1);Guanylate kinase, conserved site (1);Guanylate kinase (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90631|0.90631	0.7062|0.7062	M|M	0.88570|0.88570	2.965|2.965	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.97110	.|1.0;1.0;0.995;1.0;1.0;1.0	D|D	0.91138|0.91138	0.4943|0.4943	5|10	.|0.66056	.|D	.|0.02	-22.1782|-22.1782	20.2552|20.2552	0.98417|0.98417	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|156;156;156;156;156;156	.|Q96QZ7-6;Q96QZ7;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.|.;MAGI1_HUMAN;.;.;.;.	T|D	37|156;156;52;31;156;156	.|ENSP00000385450:G156D;ENSP00000331157:G156D;ENSP00000418177:G31D;ENSP00000420323:G156D;ENSP00000424369:G156D	.|ENSP00000331157:G156D	A|G	-|-	1|2	0|0	MAGI1|MAGI1	65454310|65454310	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.089000|6.089000	0.71384|0.71384	2.788000|2.788000	0.95919|0.95919	0.650000|0.650000	0.86243|0.86243	GCG|GGC	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000349132.2		-	ENST00000497477.2	Missense_Mutation	SNP	3 : 65479270 - 65479270 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	269	29
TFEC	22797	broad.mit.edu	37	7	115580986	115580986	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:115580986C>A	ENST00000265440.7	-	8	844		c.e8-1		TFEC_ENST00000320239.7_Splice_Site|TFEC_ENST00000457268.1_Splice_Site|TFEC_ENST00000393485.1_3'UTR	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	NA						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TTTCTAGTTCCTGTAATTTCA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	59	58			NA	NA	7		NA											NA				115580986		2189	4295	6484	SO:0001630	splice_region_variant			D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967	22797	22797		Basic helix-loop-helix proteins	11754	protein-coding gene	gene with protein product		604732			NA	9256061	Standard	NM_012252	NM_012252	NA	Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.664-1G>T	7.37:g.115580986C>A		NA	B2R8X5|Q5H9U8|Q709A4|Q8N6J9	37	CCDS5762.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270198	0.80469	.	.	ENSG00000105967	ENST00000265440;ENST00000457268;ENST00000320239	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1236	0.93374	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TFEC	115368222	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.353000	0.79414	2.594000	0.87642	0.650000	0.86243	.	TFEC-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059839.4	Intron	-	ENST00000265440.7	Splice_Site	SNP	7 : 115580986 - 115580986 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	397	73
RARRES3	5920	broad.mit.edu	37	11	63307081	63307081	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63307081C>A	ENST00000439013.2	+	2	156	c.103C>A	c.(103-105)Cat>Aat	p.H35N	RARRES3_ENST00000354445.2_Missense_Mutation_p.H35N|RARRES3_ENST00000255688.3_Missense_Mutation_p.H35N|RARRES3_ENST00000537871.1_Intron			Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	35					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						CTACGTGATCCATCTGGCTCC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	109	108			NA	NA	11		NA											NA				63307081		2194	4297	6491	SO:0001583	missense				CCDS41662.1	11q23	2008-05-02			ENSG00000133321	ENSG00000133321	5920	5920			9869	protein-coding gene	gene with protein product		605092			NA	9270552	Standard		NM_004585	NA	Approved	TIG3, HRASLS4	uc001nxf.4	Q9UL19	OTTHUMG00000167850	ENST00000439013.2:c.103C>A	11.37:g.63307081C>A	ENSP00000402943:p.His35Asn	NA	B2R599|B4DDW2|E7ENZ7|O95200	37		.	.	.	.	.	.	.	.	.	.	C	16.30	3.084429	0.55861	.	.	ENSG00000133321	ENST00000439013;ENST00000255688;ENST00000354445	T;T;T	0.43294	0.95;0.95;0.95	4.36	4.36	0.52297	.	0.161271	0.39341	N	0.001381	T	0.60843	0.2300	M	0.74546	2.27	0.27514	N	0.951613	D	0.76494	0.999	D	0.97110	1.0	T	0.54794	-0.8240	10	0.56958	D	0.05	.	9.9419	0.41585	0.2027:0.7973:0.0:0.0	.	35	Q9UL19	TIG3_HUMAN	N	35	ENSP00000402943:H35N;ENSP00000255688:H35N;ENSP00000346431:H35N	ENSP00000255688:H35N	H	+	1	0	RARRES3	63063657	0.997000	0.39634	0.954000	0.39281	0.251000	0.25915	0.767000	0.26575	2.438000	0.82558	0.563000	0.77884	CAT	RARRES3-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000396628.1		+	ENST00000439013.2	Missense_Mutation	SNP	11 : 63307081 - 63307081 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	449	95
C17orf80	55028	broad.mit.edu	37	17	71232062	71232062	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71232062T>C	ENST00000268942.8	+	3	635	c.441T>C	c.(439-441)tcT>tcC	p.S147S	FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000255557.4_Silent_p.S147S|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000426147.2_Silent_p.S147S|C17orf80_ENST00000359042.2_Silent_p.S147S|C17orf80_ENST00000535032.2_Silent_p.S147S|C17orf80_ENST00000577615.1_Silent_p.S147S	NM_001100621.1	NP_001094091	Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	147						integral to membrane				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			AGAAAACCTCTCCTAAAAGAG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	81	80			NA	NA	17		NA											NA				71232062		2202	4299	6501	SO:0001819	synonymous_variant			AY163812	CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1	17q25.1	2012-02-24	2012-02-24	2012-02-24	ENSG00000141219	ENSG00000141219	55028	55028			29601	protein-coding gene	gene with protein product	sperm-expressed protein 1, migration-inducing protein 3				NA	12477932	Standard	NM_017941	NM_017941	NA	Approved	HLC-8, MIG3, FLJ20721, SPEP1	uc002jjl.4	Q9BSJ5		ENST00000268942.8:c.441T>C	17.37:g.71232062T>C		NA	A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	37	CCDS42377.1																																																																																			C17orf80-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000441890.1		+	ENST00000268942.8	Silent	SNP	17 : 71232062 - 71232062 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	572	104
FXR2	9513	broad.mit.edu	37	17	7496331	7496331	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7496331G>A	ENST00000250113.7	-	13	1833	c.1499C>T	c.(1498-1500)tCg>tTg	p.S500L		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	500						cytosolic large ribosomal subunit	protein binding|RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ATTGTATCTCGAAGTGGGCCG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	35	34			NA	NA	17		NA											NA				7496331		1834	4076	5910	SO:0001583	missense			U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245	9513	9513			4024	protein-coding gene	gene with protein product		605339		FMR1L2	NA	7489725, 9259278	Standard		NM_004860	NA	Approved		uc002gia.2	P51116		ENST00000250113.7:c.1499C>T	17.37:g.7496331G>A	ENSP00000250113:p.Ser500Leu	NA	B2R9M2|D3DTQ1|Q8WUM2	37	CCDS45604.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.742899	0.30865	.	.	ENSG00000129245	ENST00000250113	T	0.29655	1.56	5.63	3.53	0.40419	.	0.852251	0.10465	N	0.671508	T	0.19446	0.0467	N	0.14661	0.345	0.09310	N	1	B	0.22414	0.069	B	0.13407	0.009	T	0.13899	-1.0492	10	0.49607	T	0.09	5.7236	10.3258	0.43792	0.0786:0.136:0.7853:0.0	.	500	P51116	FXR2_HUMAN	L	500	ENSP00000250113:S500L	ENSP00000250113:S500L	S	-	2	0	FXR2	7437056	0.991000	0.36638	0.677000	0.29947	0.659000	0.38960	2.881000	0.48538	1.517000	0.48917	0.655000	0.94253	TCG	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000441084.1		-	ENST00000250113.7	Missense_Mutation	SNP	17 : 7496331 - 7496331 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	423	58
HOGA1	112817	broad.mit.edu	37	10	99358558	99358558	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99358558G>A	ENST00000370646.4	+	2	599	c.238G>A	c.(238-240)Gag>Aag	p.E80K	PI4K2A_ENST00000370649.3_Intron|HOGA1_ENST00000370647.4_Intron|PI4K2A_ENST00000555577.1_Intron	NM_138413.3	NP_612422.2			4-hydroxy-2-oxoglutarate aldolase 1	NA										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						CTCCAATGGCGAGTTTCCTTT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	160	167			NA	NA	10		NA											NA				99358558		2203	4300	6503	SO:0001583	missense			BC011916	CCDS7467.1, CCDS44469.1	10q24.1	2010-12-19	2010-12-19	2010-12-19	ENSG00000241935	ENSG00000241935	112817	112817			25155	protein-coding gene	gene with protein product	dihydrodipicolinate synthetase homolog 2 (E. coli), N-acetylneuraminate pyruvate lyase 2 (putative)	613597	chromosome 10 open reading frame 65, dihydrodipicolinate synthase-like, mitochondrial	C10orf65, DHDPSL	NA	20797690	Standard	NM_138413	NM_001134670	NA	Approved	FLJ37472, DHDPS2, NPL2		Q86XE5	OTTHUMG00000018859	ENST00000370646.4:c.238G>A	10.37:g.99358558G>A	ENSP00000359680:p.Glu80Lys	NA		37	CCDS7467.1	.	.	.	.	.	.	.	.	.	.	G	35	5.552144	0.96501	.	.	ENSG00000241935	ENST00000370646	D	0.99089	-5.41	4.97	4.97	0.65823	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.99551	0.9839	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97905	1.0305	10	0.87932	D	0	-27.9215	18.2395	0.89961	0.0:0.0:1.0:0.0	.	80	Q86XE5	HOGA1_HUMAN	K	80	ENSP00000359680:E80K	ENSP00000359680:E80K	E	+	1	0	HOGA1	99348548	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.209000	0.95087	2.299000	0.77371	0.655000	0.94253	GAG	HOGA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049726.1		+	ENST00000370646.4	Missense_Mutation	SNP	10 : 99358558 - 99358558 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	725	144
EFEMP1	2202	broad.mit.edu	37	2	56094228	56094228	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56094228C>T	ENST00000394555.2	-	11	1897	c.1462G>A	c.(1462-1464)Gtg>Atg	p.V488M	EFEMP1_ENST00000355426.3_Missense_Mutation_p.V488M|EFEMP1_ENST00000424836.2_Missense_Mutation_p.V350M|EFEMP1_ENST00000394554.1_Missense_Mutation_p.V488M	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	488	Mediates interaction with TIMP3.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AATGGCCCCACTATTATTGTC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(92;934 1319 7714 28760 40110)							NA				0													132	121	125			NA	NA	2		NA											NA				56094228		2203	4300	6503	SO:0001583	missense			U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380	2202	2202		Fibulins	3218	protein-coding gene	gene with protein product	fibulin 3	601548	fibrillin-like, EGF-containing fibulin-like extracellular matrix protein 1	DHRD, FBNL	NA	8812496, 7799918	Standard		NM_001039348	NA	Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.1462G>A	2.37:g.56094228C>T	ENSP00000378058:p.Val488Met	NA	A8K3I4|D6W5D2|Q541U7	37	CCDS1857.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408195	0.83340	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000405693;ENST00000424836;ENST00000355426	D;D;D;D	0.88818	-2.43;-2.43;-1.95;-2.43	5.27	5.27	0.74061	.	0.000000	0.53938	D	0.000053	D	0.94241	0.8151	M	0.72353	2.195	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.993;0.999	D	0.94553	0.7755	10	0.87932	D	0	.	19.2437	0.93893	0.0:1.0:0.0:0.0	.	350;488	B4DW75;Q12805	.;FBLN3_HUMAN	M	488;488;344;350;488	ENSP00000378058:V488M;ENSP00000378057:V488M;ENSP00000399145:V350M;ENSP00000347596:V488M	ENSP00000347596:V488M	V	-	1	0	EFEMP1	55947732	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.228000	0.78079	2.623000	0.88846	0.585000	0.79938	GTG	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251491.2		-	ENST00000394555.2	Missense_Mutation	SNP	2 : 56094228 - 56094228 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	688	165
ITGB5	3693	broad.mit.edu	37	3	124527965	124527965	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124527965C>A	ENST00000296181.4	-	9	1463	c.1167G>T	c.(1165-1167)caG>caT	p.Q389H		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	389					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GATCCTCAGGCTGATCCCAGA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	113	114			NA	NA	3		NA											NA				124527965		2203	4300	6503	SO:0001583	missense			J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781	3693	3693		Integrins	6160	protein-coding gene	gene with protein product		147561			NA	2211615	Standard	NM_002213	NM_002213	NA	Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.1167G>T	3.37:g.124527965C>A	ENSP00000296181:p.Gln389His	NA	B0LPF8|B2RD70	37	CCDS3030.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.21|12.21	1.870481|1.870481	0.33069|0.33069	.|.	.|.	ENSG00000082781|ENSG00000082781	ENST00000496703|ENST00000296181	.|T	.|0.63255	.|-0.03	5.63|5.63	3.7|3.7	0.42460|0.42460	.|Integrin beta subunit, N-terminal (2);	.|0.444750	.|0.23612	.|N	.|0.046324	T|T	0.37919|0.37919	0.1021|0.1021	N|N	0.08118|0.08118	0|0	0.38473|0.38473	D|D	0.947511|0.947511	.|B	.|0.09022	.|0.002	.|B	.|0.08055	.|0.003	T|T	0.32640|0.32640	-0.9899|-0.9899	5|10	.|0.39692	.|T	.|0.17	.|.	8.5238|8.5238	0.33293|0.33293	0.1398:0.5011:0.3591:0.0|0.1398:0.5011:0.3591:0.0	.|.	.|389	.|P18084	.|ITB5_HUMAN	S|H	156|389	.|ENSP00000296181:Q389H	.|ENSP00000296181:Q389H	A|Q	-|-	1|3	0|2	ITGB5|ITGB5	126010655|126010655	0.990000|0.990000	0.36364|0.36364	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	0.138000|0.138000	0.16016|0.16016	2.656000|2.656000	0.90262|0.90262	0.655000|0.655000	0.94253|0.94253	GCC|CAG	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355286.3		-	ENST00000296181.4	Missense_Mutation	SNP	3 : 124527965 - 124527965 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	557	99
TAAR5	9038	broad.mit.edu	37	6	132910426	132910426	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132910426A>C	ENST00000258034.2	-	1	451	c.400T>G	c.(400-402)Tgt>Ggt	p.C134G		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	134					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		CAGATGGCACAGTGGCGGTCA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	106	104			NA	NA	6		NA											NA				132910426		2203	4300	6503	SO:0001583	missense			AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569	9038	9038		GPCR / Class A : Trace amine associated receptors	30236	protein-coding gene	gene with protein product		607405			NA	9464258, 15718104	Standard	NM_003967	NM_003967	NA	Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.400T>G	6.37:g.132910426A>C	ENSP00000258034:p.Cys134Gly	NA	Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	37	CCDS5156.1	.	.	.	.	.	.	.	.	.	.	A	6.745	0.506179	0.12883	.	.	ENSG00000135569	ENST00000258034	T	0.37411	1.2	5.58	1.58	0.23477	GPCR, rhodopsin-like superfamily (1);	0.076401	0.56097	D	0.000036	T	0.25606	0.0623	L	0.58583	1.82	0.20307	N	0.999915	P	0.38978	0.652	P	0.47915	0.561	T	0.10109	-1.0644	10	0.41790	T	0.15	-3.3848	10.982	0.47499	0.6456:0.0:0.0:0.3544	.	134	O14804	TAAR5_HUMAN	G	134	ENSP00000258034:C134G	ENSP00000258034:C134G	C	-	1	0	TAAR5	132952119	0.000000	0.05858	0.988000	0.46212	0.987000	0.75469	0.001000	0.13038	0.506000	0.28125	0.533000	0.62120	TGT	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042257.1		-	ENST00000258034.2	Missense_Mutation	SNP	6 : 132910426 - 132910426 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	400	12
GLUD2	2747	broad.mit.edu	37	X	120182660	120182660	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:120182660C>T	ENST00000328078.1	+	1	1199	c.1122C>T	c.(1120-1122)gtC>gtT	p.V374V		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	374					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	TCTTGGAGGTCGACTGTGACA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													193	171	179			NA	NA	X		NA											NA				120182660		2203	4300	6503	SO:0001819	synonymous_variant			U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890	2747	2747			4336	protein-coding gene	gene with protein product		300144	glutamate dehydrogenase pseudogene 1	GLUDP1	NA	8207021, 9109504	Standard	NM_012084	NM_012084	NA	Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.1122C>T	X.37:g.120182660C>T		NA	B2R8G0|Q9UDQ4	37	CCDS14603.1																																																																																			GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058133.1		+	ENST00000328078.1	Silent	SNP	X : 120182660 - 120182660 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	661	204
OR5D18	219438	broad.mit.edu	37	11	55587930	55587930	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55587930C>T	ENST00000333976.4	+	1	845	c.825C>T	c.(823-825)gcC>gcT	p.A275A		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCAAAGTGGCCTCTGTGTTTT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	88	88			NA	NA	11		NA											NA				55587930		2200	4296	6496	SO:0001819	synonymous_variant			AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119	219438	219438		GPCR / Class A : Olfactory receptors	15285	protein-coding gene	gene with protein product					NA		Standard	NM_001001952	NM_001001952	NA	Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.825C>T	11.37:g.55587930C>T		NA	Q6IF67|Q6IFD3|Q96RB3	37	CCDS31510.1																																																																																			OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391515.1		+	ENST00000333976.4	Silent	SNP	11 : 55587930 - 55587930 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	424	87
MATN1	4146	broad.mit.edu	37	1	31189685	31189685	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31189685C>T	ENST00000373765.4	-	4	777	c.742G>A	c.(742-744)Gcc>Acc	p.A248T	MATN1_ENST00000477320.1_5'UTR	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	248	EGF-like.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.A248T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TCGTGGCAGGCGCAGGTGTAG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)						C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	72	59	64		742	1.8	0.8	1		64	0,8600		0,0,4300	no	missense	MATN1	NM_002379.3	58	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	benign	248/497	31189685	1,13005	2203	4300	6503	SO:0001583	missense			M55675	CCDS336.1	1p35	2008-02-05			ENSG00000162510	ENSG00000162510	4146	4146			6907	protein-coding gene	gene with protein product		115437		CRTM, CMP	NA	2246248, 9083061	Standard	NM_002379	NM_002379	NA	Approved		uc001brz.3	P21941	OTTHUMG00000003705	ENST00000373765.4:c.742G>A	1.37:g.31189685C>T	ENSP00000362870:p.Ala248Thr	NA	B2R7E3|Q5TBB9	37	CCDS336.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.238134	0.22711	2.27E-4	0.0	ENSG00000162510	ENST00000373765	D	0.85955	-2.05	5.12	1.76	0.24704	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	.	.	.	.	T	0.67655	0.2916	N	0.05487	-0.04	0.54753	D	0.999981	B;B	0.15930	0.006;0.015	B;B	0.13407	0.009;0.009	T	0.54583	-0.8272	9	0.17369	T	0.5	-18.6134	10.4414	0.44469	0.2488:0.6811:0.0:0.0701	.	232;248	A3KMG0;P21941	.;MATN1_HUMAN	T	248	ENSP00000362870:A248T	ENSP00000362870:A248T	A	-	1	0	MATN1	30962272	0.999000	0.42202	0.813000	0.32504	0.620000	0.37586	4.002000	0.57053	0.530000	0.28619	-0.181000	0.13052	GCC	MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000010458.1		-	ENST00000373765.4	Missense_Mutation	SNP	1 : 31189685 - 31189685 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	139	23
SPTB	6710	broad.mit.edu	37	14	65253315	65253315	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65253315G>A	ENST00000556626.1	-	16	3510	c.3368C>T	c.(3367-3369)tCt>tTt	p.S1123F	SPTB_ENST00000389722.3_Missense_Mutation_p.S1123F|SPTB_ENST00000389721.5_Missense_Mutation_p.S1123F|SPTB_ENST00000389720.3_Missense_Mutation_p.S1123F|SPTB_ENST00000542895.1_Missense_Mutation_p.S1123F			P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1123					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TTTCTCCCCAGACTCCTTAAC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	75	79			NA	NA	14		NA											NA				65253315		2203	4300	6503	SO:0001583	missense				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182	6710	6710		Pleckstrin homology (PH) domain containing	11274	protein-coding gene	gene with protein product	spherocytosis, clinical type I	182870			NA	2209094	Standard		NM_001024858	NA	Approved		uc001xhr.3	P11277		ENST00000556626.1:c.3368C>T	14.37:g.65253315G>A	ENSP00000451752:p.Ser1123Phe	NA	Q15510|Q15519	37	CCDS32099.1	.	.	.	.	.	.	.	.	.	.	G	5.196	0.221703	0.09863	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75	4.89	4.89	0.63831	.	0.196582	0.44483	D	0.000454	T	0.30070	0.0753	N	0.16368	0.405	0.37834	D	0.928837	B;B	0.33171	0.4;0.081	B;B	0.38194	0.267;0.028	T	0.19192	-1.0313	10	0.13108	T	0.6	.	7.8989	0.29723	0.1794:0.0:0.8206:0.0	.	1123;1127	P11277;Q59FP5	SPTB1_HUMAN;.	F	1127;1123;1123;1123;1123;1123	ENSP00000374372:S1123F;ENSP00000451752:S1123F;ENSP00000374371:S1123F;ENSP00000443882:S1123F;ENSP00000374370:S1123F	ENSP00000374370:S1123F	S	-	2	0	SPTB	64323068	0.002000	0.14202	0.911000	0.35937	0.930000	0.56654	0.780000	0.26760	2.430000	0.82344	0.549000	0.68633	TCT	SPTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414076.1		-	ENST00000556626.1	Missense_Mutation	SNP	14 : 65253315 - 65253315 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	310	61
PTPRN	5798	broad.mit.edu	37	2	220162753	220162753	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220162753G>A	ENST00000295718.2	-	13	1981	c.1741C>T	c.(1741-1743)Ctg>Ttg	p.L581L	PTPRN_ENST00000409251.3_Silent_p.L552L|PTPRN_ENST00000423636.2_Silent_p.L491L	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	581					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		AGGGCCACCAGAGTGAGCAGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	62	62			NA	NA	2		NA											NA				220162753		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356	5798	5798		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like	9676	protein-coding gene	gene with protein product		601773			NA	8024693	Standard		NM_001199763	NA	Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1741C>T	2.37:g.220162753G>A		NA	Q08319|Q53QD6	37	CCDS2440.1																																																																																			PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256819.2		-	ENST00000295718.2	Silent	SNP	2 : 220162753 - 220162753 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	484	107
CDH23	64072	broad.mit.edu	37	10	73462397	73462397	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73462397G>A	ENST00000224721.6	+	23	2699	c.2694G>A	c.(2692-2694)ctG>ctA	p.L898L	CDH23_ENST00000299366.7_Silent_p.L938L	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	893	Cadherin 9.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TTCAGAACCTGCCTTTTGTGG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	127	125			NA	NA	10		NA											NA				73462397		1944	4141	6085	SO:0001819	synonymous_variant			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736	64072	64072		Cadherins / Cadherin-related	13733	protein-coding gene	gene with protein product	cadherin-related family member 23	605516	cadherin related 23, cadherin-like 23	DFNB12, USH1D	NA	11090341	Standard	NM_052836	NM_022124	NA	Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.2694G>A	10.37:g.73462397G>A		NA	C4IXS9|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	37																																																																																				CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000051227.4		+	ENST00000224721.6	Silent	SNP	10 : 73462397 - 73462397 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	753	142
ZBTB20	26137	broad.mit.edu	37	3	114070695	114070695	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114070695C>T	ENST00000462705.1	-	11	832	c.11G>A	c.(10-12)cGc>cAc	p.R4H	ZBTB20_ENST00000357258.3_Missense_Mutation_p.R4H|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000474710.1_Missense_Mutation_p.R77H|ZBTB20_ENST00000471418.1_Missense_Mutation_p.R4H|ZBTB20_ENST00000464560.1_Missense_Mutation_p.R4H|ZBTB20_ENST00000481632.1_Missense_Mutation_p.R4H|ZBTB20_ENST00000393785.2_Missense_Mutation_p.R4H|ZBTB20-AS1_ENST00000496219.1_RNA	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R4H(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GCTGTGAATGCGCTCGGTCAT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(69;748 1344 9802 11203 30933)							NA				1	Substitution - Missense(1)	large_intestine(1)											75	76	76			NA	NA	3		NA											NA				114070695		2202	4298	6500	SO:0001583	missense			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722	26137	26137		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	13503	protein-coding gene	gene with protein product		606025	zinc finger protein 288	ZNF288	NA	10965110, 11352661	Standard	NM_015642	XM_005247339	NA	Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000462705.1:c.11G>A	3.37:g.114070695C>T	ENSP00000420324:p.Arg4His	NA	Q63HP6|Q8N6R5|Q9Y410	37	CCDS2981.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893482	0.91889	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560;ENST00000470311	T;T;T;T;T;T;T;T	0.46819	2.67;2.67;2.67;2.67;2.78;2.67;2.67;0.86	6.1	6.1	0.99115	BTB/POZ fold (1);	0.000000	0.85682	D	0.000000	T	0.66426	0.2788	L	0.52011	1.625	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.65249	-0.6214	10	0.87932	D	0	.	20.7146	0.99709	0.0:1.0:0.0:0.0	.	77	Q9HC78	ZBT20_HUMAN	H	4;4;4;4;77;4;4;4	ENSP00000420324:R4H;ENSP00000377375:R4H;ENSP00000418092:R4H;ENSP00000419902:R4H;ENSP00000419153:R77H;ENSP00000349803:R4H;ENSP00000417307:R4H;ENSP00000420684:R4H	ENSP00000349803:R4H	R	-	2	0	ZBTB20	115553385	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.902000	0.99343	0.650000	0.86243	CGC	ZBTB20-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354954.1		-	ENST00000462705.1	Missense_Mutation	SNP	3 : 114070695 - 114070695 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	422	47
ZNF839	55778	broad.mit.edu	37	14	102792469	102792469	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102792469G>A	ENST00000442396.2	+	2	451	c.436G>A	c.(436-438)Gcc>Acc	p.A146T	ZNF839_ENST00000262236.5_Missense_Mutation_p.A30T|ZNF839_ENST00000559185.1_Missense_Mutation_p.A30T|ZNF839_ENST00000558850.1_Missense_Mutation_p.A30T			A8K0R7	ZN839_HUMAN	zinc finger protein 839	30						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GCTCCATATCGCCAGCCCTCA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	45	43			NA	NA	14		NA											NA				102792469		1944	4155	6099	SO:0001583	missense			AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976	55778	55778			20345	protein-coding gene	gene with protein product			chromosome 14 open reading frame 131	C14orf131	NA		Standard	NM_018335	NM_018335	NA	Approved		uc010awk.2	A8K0R7		ENST00000442396.2:c.436G>A	14.37:g.102792469G>A	ENSP00000399863:p.Ala146Thr	NA	B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	37	CCDS45164.1	.	.	.	.	.	.	.	.	.	.	G	0.364	-0.937686	0.02340	.	.	ENSG00000022976	ENST00000442396;ENST00000262236	T;T	0.42131	0.98;0.98	4.26	-6.21	0.02065	.	.	.	.	.	T	0.18551	0.0445	N	0.19112	0.55	0.09310	N	1	B;B;B	0.24368	0.048;0.102;0.102	B;B;B	0.19148	0.011;0.013;0.024	T	0.20140	-1.0284	9	0.16896	T	0.51	.	3.8425	0.08920	0.5386:0.1098:0.2406:0.111	.	146;30;30	A8K0R7-5;A8K0R7-2;A8K0R7	.;.;ZN839_HUMAN	T	146;30	ENSP00000399863:A146T;ENSP00000262236:A30T	ENSP00000262236:A30T	A	+	1	0	ZNF839	101862222	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.652000	0.05366	-1.733000	0.01357	-1.060000	0.02296	GCC	ZNF839-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415560.1		+	ENST00000442396.2	Missense_Mutation	SNP	14 : 102792469 - 102792469 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	205	38
HOOK2	29911	broad.mit.edu	37	19	12881839	12881839	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12881839T>C	ENST00000264827.5	-	10	979	c.809A>G	c.(808-810)gAg>gGg	p.E270G	HOOK2_ENST00000397668.3_Missense_Mutation_p.E270G|HOOK2_ENST00000589965.1_Intron	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	270	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						AACCTCCCTCTCCAGCTCGGC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	29	28			NA	NA	19		NA											NA				12881839		2051	4182	6233	SO:0001583	missense			AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21				29911	29911			19885	protein-coding gene	gene with protein product		607824	hook homolog 2 (Drosophila)		NA	9927460	Standard	NM_013312	NM_013312	NA	Approved	HK2	uc002muy.2	Q96ED9		ENST00000264827.5:c.809A>G	19.37:g.12881839T>C	ENSP00000264827:p.Glu270Gly	NA	O60562	37	CCDS42507.1	.	.	.	.	.	.	.	.	.	.	t	21.8	4.208267	0.79240	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.25414	1.8;1.8	4.8	4.8	0.61643	.	0.127143	0.50627	D	0.000108	T	0.49218	0.1544	M	0.85462	2.755	0.41274	D	0.98686	P;P	0.50819	0.925;0.939	P;P	0.56278	0.691;0.795	T	0.58940	-0.7547	10	0.87932	D	0	-19.5424	13.3357	0.60516	0.0:0.0:0.0:1.0	.	270;270	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	G	270	ENSP00000380785:E270G;ENSP00000264827:E270G	ENSP00000264827:E270G	E	-	2	0	HOOK2	12742839	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	7.687000	0.84139	1.804000	0.52760	0.373000	0.22412	GAG	HOOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451009.1		-	ENST00000264827.5	Missense_Mutation	SNP	19 : 12881839 - 12881839 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	162	23
RNF6	6049	broad.mit.edu	37	13	26788516	26788516	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:26788516A>C	ENST00000381588.4	-	5	2255	c.1503T>G	c.(1501-1503)gaT>gaG	p.D501E	RNF6_ENST00000346166.3_Missense_Mutation_p.D501E|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000399762.2_Missense_Mutation_p.D145E|RNF6_ENST00000381570.3_Missense_Mutation_p.D501E	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	501					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CTGACTCAGAATCGGCCTCCA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	70	71			NA	NA	13		NA											NA				26788516		2203	4300	6503	SO:0001583	missense			AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870	6049	6049		RING-type (C3HC4) zinc fingers	10069	protein-coding gene	gene with protein product	RING-H2 protein RNF-6	604242			NA	10331950	Standard	NM_005977	NM_005977	NA	Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.1503T>G	13.37:g.26788516A>C	ENSP00000371000:p.Asp501Glu	NA	Q9UF41	37	CCDS9316.1	.	.	.	.	.	.	.	.	.	.	A	1.620	-0.521653	0.04171	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570;ENST00000399762	T;T;T;T	0.15487	3.05;3.05;3.05;2.42	4.64	0.627	0.17675	.	0.058299	0.64402	N	0.000002	T	0.03178	0.0093	N	0.01146	-0.985	0.19945	N	0.999943	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.34551	-0.9824	10	0.05525	T	0.97	-10.5683	1.0214	0.01519	0.1494:0.1914:0.1526:0.5066	.	145;501	B4DDP0;Q9Y252	.;RNF6_HUMAN	E	501;501;501;145	ENSP00000342121:D501E;ENSP00000371000:D501E;ENSP00000370982:D501E;ENSP00000382665:D145E	ENSP00000342121:D501E	D	-	3	2	RNF6	25686516	0.997000	0.39634	0.853000	0.33588	0.872000	0.50106	0.373000	0.20484	0.031000	0.15407	-0.399000	0.06403	GAT	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044246.2		-	ENST00000381588.4	Missense_Mutation	SNP	13 : 26788516 - 26788516 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	369	60
AKAP10	11216	broad.mit.edu	37	17	19866323	19866323	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19866323A>G	ENST00000395536.3	-	3	148	c.149T>C	c.(148-150)gTa>gCa	p.V50A	AKAP10_ENST00000572155.1_5'UTR|AKAP10_ENST00000225737.6_Missense_Mutation_p.V50A			O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	50					blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					TGGGGAATGTACGGATATTGA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	94	96			NA	NA	17		NA											NA				19866323		2203	4300	6503	SO:0001583	missense			AF037439	CCDS11214.1	17p11.1	2008-07-18			ENSG00000108599	ENSG00000108599	11216	11216		A-kinase anchor proteins	368	protein-coding gene	gene with protein product	dual-specificity A-kinase anchoring protein 2, protein kinase A anchoring protein 10, mitochondrial A kinase PPKA anchor protein 10	604694			NA	9326583	Standard	NM_007202	NM_007202	NA	Approved	D-AKAP2, PRKA10, MGC9414	uc002gwo.4	O43572	OTTHUMG00000059515	ENST00000395536.3:c.149T>C	17.37:g.19866323A>G	ENSP00000378907:p.Val50Ala	NA	B2R650|Q96AJ7	37	CCDS11214.1	.	.	.	.	.	.	.	.	.	.	A	10.87	1.471731	0.26423	.	.	ENSG00000108599	ENST00000225737;ENST00000395536	T	0.35421	1.31	5.87	3.66	0.41972	.	0.219160	0.47852	N	0.000203	T	0.30727	0.0774	L	0.51422	1.61	0.23568	N	0.997396	B;B;B	0.34015	0.001;0.435;0.084	B;B;B	0.32762	0.002;0.152;0.03	T	0.14282	-1.0478	10	0.46703	T	0.11	-2.4956	9.4773	0.38880	0.857:0.0:0.143:0.0	.	50;50;50	E7EMD6;Q2XPN4;O43572	.;.;AKA10_HUMAN	A	50	ENSP00000225737:V50A	ENSP00000225737:V50A	V	-	2	0	AKAP10	19806915	1.000000	0.71417	0.918000	0.36340	0.886000	0.51366	3.067000	0.50010	0.483000	0.27608	-0.361000	0.07541	GTA	AKAP10-005	NOVEL	non_canonical_TEC|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000441144.3		-	ENST00000395536.3	Missense_Mutation	SNP	17 : 19866323 - 19866323 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	586	85
NFATC1	4772	broad.mit.edu	37	18	77246678	77246678	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77246678G>A	ENST00000329101.4	+	9	2540	c.2484G>A	c.(2482-2484)tcG>tcA	p.S828S	NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000427363.2_Silent_p.S841S|NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000253506.5_Intron|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000545796.1_Silent_p.S369S|NFATC1_ENST00000318065.5_Intron	NM_001278669.1|NM_001278673.1|NM_172387.1	NP_001265598.1|NP_001265602.1|NP_765975.1	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	841	Trans-activation domain B (TAD-B).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		TCGAACACTCGCTCTGCCCCA	0.751		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(151;1210 2593 28719 45011)							NA				0													21	21	21			NA	NA	18		NA											NA				77246678		2180	4277	6457	SO:0001819	synonymous_variant			U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196	4772	4772		Nuclear factor of activated T-cells	7775	protein-coding gene	gene with protein product		600489			NA	8202141	Standard	NM_172390	NM_001278669	NA	Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000329101.4:c.2484G>A	18.37:g.77246678G>A		NA	Q12865|Q15793	37	CCDS32850.1																																																																																			NFATC1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450510.1		+	ENST00000329101.4	Silent	SNP	18 : 77246678 - 77246678 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	201	35
TRPV1	7442	broad.mit.edu	37	17	3493618	3493618	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3493618C>T	ENST00000310522.5	-	4	672	c.673G>A	c.(673-675)Gga>Aga	p.G225R	TRPV1_ENST00000174621.6_Missense_Mutation_p.G223R|TRPV1_ENST00000399759.3_Missense_Mutation_p.G225R|TRPV1_ENST00000571088.1_Missense_Mutation_p.G225R|SHPK_ENST00000572705.1_Missense_Mutation_p.G225R|TRPV1_ENST00000425167.2_Missense_Mutation_p.G225R|TRPV1_ENST00000399756.4_Missense_Mutation_p.G225R|TRPV1_ENST00000576351.1_Missense_Mutation_p.G225R			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	225					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	ACGTCTGCTCCGTTCTCCACC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(38;962 1762 15789)							NA				0								C	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	3,4269		0,3,2133	72	78	76		673,673,673,673	5.3	1	17		76	0,8488		0,0,4244	no	missense,missense,missense,missense	TRPV1	NM_018727.5,NM_080704.3,NM_080705.3,NM_080706.3	125,125,125,125	0,3,6377	TT,TC,CC	NA	0.0,0.0702,0.0235	probably-damaging,probably-damaging,probably-damaging,probably-damaging	225/840,225/840,225/840,225/840	3493618	3,12757	2136	4244	6380	SO:0001583	missense			AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304	7442	7442		Voltage-gated ion channels / Transient receptor potential cation channels, Ankyrin repeat domain containing	12716	protein-coding gene	gene with protein product		602076	vanilloid receptor subtype 1	VR1	NA	9349813, 11549313, 16382100	Standard	NM_018727	NM_018727	NA	Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000310522.5:c.673G>A	17.37:g.3493618C>T	ENSP00000311692:p.Gly225Arg	NA	A2RUA9|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	37	CCDS45576.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403160	0.83230	7.02E-4	0.0	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000174621;ENST00000425167;ENST00000310522	T;T;T;D;D	0.81659	-1.21;-1.21;-1.21;-1.52;-1.52	5.29	5.29	0.74685	Ankyrin repeat-containing domain (4);	0.153946	0.64402	D	0.000015	D	0.89691	0.6788	M	0.73753	2.245	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.90562	0.4516	10	0.87932	D	0	-8.0962	18.2953	0.90143	0.0:1.0:0.0:0.0	.	225;223;225;225	Q8NER1;E7EQ80;E7ESJ2;E7EQ78	TRPV1_HUMAN;.;.;.	R	225;225;223;225;225	ENSP00000382661:G225R;ENSP00000382659:G225R;ENSP00000174621:G223R;ENSP00000409627:G225R;ENSP00000311692:G225R	ENSP00000174621:G223R	G	-	1	0	TRPV1	3440367	1.000000	0.71417	1.000000	0.80357	0.564000	0.35744	7.366000	0.79548	2.641000	0.89580	0.591000	0.81541	GGA	TRPV1-006	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438259.1		-	ENST00000310522.5	Missense_Mutation	SNP	17 : 3493618 - 3493618 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	403	37
DCAF8	50717	broad.mit.edu	37	1	160187443	160187443	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160187443C>A	ENST00000368073.3	-	14	2167	c.1733G>T	c.(1732-1734)aGc>aTc	p.S578I	DCAF8_ENST00000326837.2_Missense_Mutation_p.S578I|DCAF8_ENST00000608310.1_Missense_Mutation_p.S732I|DCAF8_ENST00000556710.1_Missense_Mutation_p.S732I|DCAF8_ENST00000368074.1_Missense_Mutation_p.S578I			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	578						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						GTCTGAGGAGCTGGGAGACTC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	69	69			NA	NA	1		NA											NA				160187443		2203	4300	6503	SO:0001583	missense			AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716	50717	50717		WD repeat domain containing, DDB1 and CUL4 associated factors	24891	protein-coding gene	gene with protein product		615820	WD repeat domain 42A	WDR42A	NA	11401431	Standard	NM_015726	NM_015726	NA	Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.1733G>T	1.37:g.160187443C>A	ENSP00000357052:p.Ser578Ile	NA	D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	37	CCDS1200.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683596	0.68157	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000540855;ENST00000556710	T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.32;-0.32	4.91	4.91	0.64330	.	0.000000	0.64402	U	0.000001	T	0.81866	0.4913	M	0.79475	2.455	0.80722	D	1	D;D	0.69078	0.997;0.99	D;D	0.78314	0.991;0.944	D	0.84195	0.0447	10	0.87932	D	0	-11.435	17.0487	0.86511	0.0:1.0:0.0:0.0	.	732;578	G3V3G9;Q5TAQ9	.;DCAF8_HUMAN	I	578;578;578;732;559;732	ENSP00000357052:S578I;ENSP00000318227:S578I;ENSP00000357053:S578I;ENSP00000451989:S732I;ENSP00000451235:S732I	ENSP00000318227:S578I	S	-	2	0	RP11-574F21.3;DCAF8	158454067	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.712000	0.74681	2.549000	0.85964	0.655000	0.94253	AGC	DCAF8-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077402.2		-	ENST00000368073.3	Missense_Mutation	SNP	1 : 160187443 - 160187443 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	380	85
GABRA4	2557	broad.mit.edu	37	4	46930511	46930511	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46930511G>A	ENST00000264318.3	-	9	2378	c.1396C>T	c.(1396-1398)Cga>Tga	p.R466*		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	466					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GAAGCCTTTCGAGGCATATAT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(6;283 369 8234 12290 33402)							NA				0													111	102	105			NA	NA	4		NA											NA				46930511		2203	4300	6503	SO:0001587	stop_gained				CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158	2557	2557		GABA receptors, Ligand-gated ion channels / GABA(A) receptors	4078	protein-coding gene	gene with protein product	GABA(A) receptor, alpha 4	137141			NA	7607683	Standard		NM_000809	NA	Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1396C>T	4.37:g.46930511G>A	ENSP00000264318:p.Arg466*	NA	Q8IYR7	37	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	40	8.322356	0.98759	.	.	ENSG00000109158	ENST00000264318	.	.	.	5.64	0.869	0.19096	.	35.111300	0.00166	N	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3934	0.32542	0.0733:0.0:0.4515:0.4752	.	.	.	.	X	466	.	ENSP00000264318:R466X	R	-	1	2	GABRA4	46625268	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.507000	0.22675	0.036000	0.15547	-0.175000	0.13238	CGA	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216893.1		-	ENST00000264318.3	Nonsense_Mutation	SNP	4 : 46930511 - 46930511 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	377	38
UBE2E3	10477	broad.mit.edu	37	2	181846774	181846774	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:181846774C>T	ENST00000410062.4	+	2	398	c.5C>T	c.(4-6)tCc>tTc	p.S2F	UBE2E3_ENST00000392415.2_Missense_Mutation_p.S2F|UBE2E3_ENST00000602475.1_Missense_Mutation_p.S2F|UBE2E3_ENST00000602632.1_Missense_Mutation_p.S2F|UBE2E3_ENST00000602959.1_Missense_Mutation_p.S2F|UBE2E3_ENST00000602710.1_Missense_Mutation_p.S2F	NM_006357.2	NP_006348.1	Q969T4	UB2E3_HUMAN	ubiquitin-conjugating enzyme E2E 3	2					protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth	cytoplasm|nucleolus	ATP binding|protein binding|ubiquitin-protein ligase activity			breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1)	11						ACCAAGATGTCCAGTGATAGG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	49	46			NA	NA	2		NA											NA				181846774		2203	4300	6503	SO:0001583	missense			AB017644	CCDS2282.1	2q31.3	2011-05-19	2011-05-19		ENSG00000170035	ENSG00000170035	10477	10477		Ubiquitin-conjugating enzymes E2	12479	protein-coding gene	gene with protein product		604151	ubiquitin-conjugating enzyme E2E 3 (homologous to yeast UBC4/5), ubiquitin-conjugating enzyme E2E 3 (UBC4/5 homolog, yeast)		NA	10343118	Standard	NM_006357	NM_006357	NA	Approved	UbcH9	uc002unq.1	Q969T4	OTTHUMG00000132585	ENST00000410062.4:c.5C>T	2.37:g.181846774C>T	ENSP00000386788:p.Ser2Phe	NA	B2RAD6|D3DPG3|Q5U0R7|Q7Z4W4	37	CCDS2282.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.866090	0.71949	.	.	ENSG00000170035	ENST00000430956;ENST00000410114;ENST00000411535;ENST00000392415;ENST00000414657;ENST00000410062;ENST00000409513;ENST00000426294;ENST00000409247;ENST00000409596	T;T	0.66995	-0.24;-0.24	5.15	3.33	0.38152	.	0.084010	0.51477	D	0.000093	T	0.65396	0.2687	L	0.54323	1.7	0.58432	D	0.999996	B	0.27229	0.172	B	0.37387	0.248	T	0.65043	-0.6264	10	0.87932	D	0	.	10.7273	0.46077	0.0:0.7957:0.1325:0.0718	.	2	Q969T4	UB2E3_HUMAN	F	2	ENSP00000376215:S2F;ENSP00000386788:S2F	ENSP00000376215:S2F	S	+	2	0	UBE2E3	181555019	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.246000	0.78247	0.668000	0.31126	-0.175000	0.13238	TCC	UBE2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255795.6		+	ENST00000410062.4	Missense_Mutation	SNP	2 : 181846774 - 181846774 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	391	77
BTRC	8945	broad.mit.edu	37	10	103285770	103285770	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103285770C>A	ENST00000370187.3	+	6	675	c.557C>A	c.(556-558)gCt>gAt	p.A186D	BTRC_ENST00000408038.2_Splice_Site_p.A150D|BTRC_ENST00000393441.4_Splice_Site_p.A145D	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	186					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CTACTGAAAGCTCGGGGATTG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	68	74			NA	NA	10		NA											NA				103285770		2203	4300	6503	SO:0001630	splice_region_variant			Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167	8945	8945		F-boxes / WD-40 domains, WD repeat domain containing	1144	protein-coding gene	gene with protein product		603482	beta-transducin repeat containing		NA	9660940, 10331953, 18354483	Standard	NM_033637	NM_033637	NA	Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.557-1C>A	10.37:g.103285770C>A		NA	B5MD49|Q5W142|Q9Y213	37	CCDS7512.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.967622	0.53507	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000408038;ENST00000370183	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.53	5.53	0.82687	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.23171	0.0560	L	0.43757	1.38	0.80722	D	1	B;B;B	0.32350	0.336;0.28;0.366	B;B;B	0.34301	0.084;0.171;0.179	T	0.02156	-1.1204	9	.	.	.	.	19.4679	0.94950	0.0:1.0:0.0:0.0	.	160;150;186	B7Z3H4;Q9Y297-2;Q9Y297	.;.;FBW1A_HUMAN	D	186;145;150;168	ENSP00000359206:A186D;ENSP00000377088:A145D;ENSP00000385339:A150D;ENSP00000359202:A168D	.	A	+	2	0	BTRC	103275760	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.818000	0.86416	2.611000	0.88343	0.650000	0.86243	GCT	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049936.1	Missense_Mutation	+	ENST00000370187.3	Splice_Site	SNP	10 : 103285770 - 103285770 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	151	28
EMR1	2015	broad.mit.edu	37	19	6924844	6924844	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6924844G>A	ENST00000312053.4	+	15	1984	c.1947G>A	c.(1945-1947)aaG>aaA	p.K649K	EMR1_ENST00000450315.3_Silent_p.K472K|EMR1_ENST00000381407.5_Silent_p.K508K|EMR1_ENST00000250572.8_Intron|EMR1_ENST00000381404.4_Silent_p.K597K	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	649					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TCTTGGCGAAGACTCTCTTCC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													219	138	165			NA	NA	19		NA											NA				6924844		2203	4300	6503	SO:0001819	synonymous_variant			X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26				2015	2015		-, GPCR / Class B : Orphans	3336	protein-coding gene	gene with protein product		600493	egf-like module containing, mucin-like, hormone receptor-like sequence 1	TM7LN3	NA	7601460, 9500513	Standard		NM_001974	NA	Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1947G>A	19.37:g.6924844G>A		NA	A6NHV2|Q2I7G5|Q8NGA7	37	CCDS12175.1																																																																																			EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458485.1		+	ENST00000312053.4	Silent	SNP	19 : 6924844 - 6924844 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	390	82
KRT15	3866	broad.mit.edu	37	17	39671904	39671904	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39671904C>T	ENST00000254043.3	-	6	4652	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	KRT15_ENST00000393976.2_Missense_Mutation_p.R356H|KRT15_ENST00000393974.3_Missense_Mutation_p.R191H|KRT15_ENST00000393981.3_Missense_Mutation_p.R191H	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	356	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CGTGGCATAGCGGCACTCTGT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	60	62			NA	NA	17		NA											NA				39671904		2203	4300	6503	SO:0001583	missense				CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346	3866	3866		-, Intermediate filaments type I, keratins (acidic)	6421	protein-coding gene	gene with protein product	keratin-15, basic, keratin-15, beta, type I cytoskeletal 15, cytokeratin 15	148030			NA	16831889	Standard	NM_002275	NM_002275	NA	Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.1067G>A	17.37:g.39671904C>T	ENSP00000254043:p.Arg356His	NA	B3KQY1|Q53XV8|Q9BUG4	37	CCDS11398.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624215	0.87560	.	.	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981;ENST00000458290	D;D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66;-2.66	4.74	4.74	0.60224	Filament (1);	0.000000	0.50627	D	0.000119	D	0.95277	0.8468	M	0.85945	2.785	0.53005	D	0.999963	D;D;D	0.89917	1.0;0.982;0.982	D;P;P	0.97110	1.0;0.749;0.749	D	0.95576	0.8642	10	0.72032	D	0.01	.	13.3192	0.60424	0.0:0.9218:0.0:0.0782	.	191;356;356	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	H	356;191;356;191;191	ENSP00000254043:R356H;ENSP00000377544:R191H;ENSP00000377546:R356H;ENSP00000377550:R191H;ENSP00000409282:R191H	ENSP00000254043:R356H	R	-	2	0	KRT15	36925430	0.636000	0.27207	1.000000	0.80357	0.966000	0.64601	3.180000	0.50895	2.447000	0.82792	0.655000	0.94253	CGC	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257301.1		-	ENST00000254043.3	Missense_Mutation	SNP	17 : 39671904 - 39671904 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	426	77
TARBP1	6894	broad.mit.edu	37	1	234586199	234586199	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234586199C>T	ENST00000040877.1	-	10	1835	c.1836G>A	c.(1834-1836)gaG>gaA	p.E612E		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	612					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ACTTAACATACTCTTGAACAA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	75	77			NA	NA	1		NA											NA				234586199		2203	4300	6503	SO:0001819	synonymous_variant				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588	6894	6894			11568	protein-coding gene	gene with protein product	tRNA methyltransferase 3 homolog (S. cerevisiae)	605052	Tar (HIV-1) RNA binding protein 1		NA	1936997	Standard	NM_005646	NM_005646	NA	Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.1836G>A	1.37:g.234586199C>T		NA	Q9H581	37	CCDS1601.1																																																																																			TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092616.1		-	ENST00000040877.1	Silent	SNP	1 : 234586199 - 234586199 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	31
SPOCD1	90853	broad.mit.edu	37	1	32280525	32280525	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32280525C>T	ENST00000360482.2	-	2	539	c.410G>A	c.(409-411)aGc>aAc	p.S137N	SPOCD1_ENST00000533231.1_Missense_Mutation_p.S137N|SPOCD1_ENST00000373648.2_Missense_Mutation_p.S137N|SPOCD1_ENST00000257100.3_Intron	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	137					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		AGCAGACCTGCTACAAAGTTT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	77	74			NA	NA	1		NA											NA				32280525		2203	4299	6502	SO:0001583	missense			AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668	90853	90853			26338	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 146				NA	12477932	Standard	NM_144569	NM_144569	NA	Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.410G>A	1.37:g.32280525C>T	ENSP00000353670:p.Ser137Asn	NA	Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	37	CCDS347.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.191639	0.38707	.	.	ENSG00000134668	ENST00000360482;ENST00000373648;ENST00000533231	T;T;T	0.45668	1.19;0.89;1.19	3.57	1.71	0.24356	.	.	.	.	.	T	0.21307	0.0513	N	0.08118	0	0.09310	N	1	P;P	0.40731	0.728;0.608	B;B	0.39217	0.294;0.154	T	0.07693	-1.0759	9	0.48119	T	0.1	-0.0017	5.8672	0.18781	0.0:0.7583:0.0:0.2417	.	137;137	Q6ZMY3-2;Q6ZMY3	.;SPOC1_HUMAN	N	137	ENSP00000353670:S137N;ENSP00000362752:S137N;ENSP00000435851:S137N	ENSP00000353670:S137N	S	-	2	0	SPOCD1	32053112	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.869000	0.04232	0.515000	0.28320	-0.137000	0.14449	AGC	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381912.1		-	ENST00000360482.2	Missense_Mutation	SNP	1 : 32280525 - 32280525 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	737	101
LRIG1	26018	broad.mit.edu	37	3	66467583	66467583	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:66467583C>T	ENST00000383703.3	-	4	1076	c.473G>A	c.(472-474)tGc>tAc	p.C158Y	LRIG1_ENST00000273261.3_Missense_Mutation_p.C158Y			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	158						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GTGTGGAAAGCAGGTGTTCCG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													260	232	241			NA	NA	3		NA											NA				66467583		2203	4300	6503	SO:0001583	missense			AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749	26018	26018		Immunoglobulin superfamily / I-set domain containing	17360	protein-coding gene	gene with protein product	ortholog of mouse integral membrane glycoprotein LIG-1, leucine-rich repeat protein LRIG1	608868			NA	11414704, 12234026	Standard	NM_015541	NM_015541	NA	Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000383703.3:c.473G>A	3.37:g.66467583C>T	ENSP00000373208:p.Cys158Tyr	NA	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	37		.	.	.	.	.	.	.	.	.	.	C	15.48	2.844997	0.51164	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.58652	0.32;0.32	5.89	5.89	0.94794	.	0.104215	0.64402	D	0.000002	T	0.43277	0.1240	N	0.16130	0.375	0.50171	D	0.999854	B;B	0.29612	0.251;0.171	B;B	0.30179	0.112;0.105	T	0.37888	-0.9686	10	0.44086	T	0.13	.	15.6916	0.77457	0.0:0.8637:0.1363:0.0	.	158;158	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	Y	158;158;85	ENSP00000273261:C158Y;ENSP00000373208:C158Y	ENSP00000273261:C158Y	C	-	2	0	LRIG1	66550273	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.829000	0.48128	2.792000	0.96026	0.643000	0.83706	TGC	LRIG1-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000351931.1		-	ENST00000383703.3	Missense_Mutation	SNP	3 : 66467583 - 66467583 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1031	234
MAGEA11	4110	broad.mit.edu	37	X	148797891	148797891	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:148797891C>A	ENST00000355220.5	+	5	847	c.745C>A	c.(745-747)Ctg>Atg	p.L249M	MAGEA11_ENST00000333104.4_Missense_Mutation_p.L220M	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	249	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGCAGAAATGCTGGGGAGTGT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	110	109			NA	NA	X		NA											NA				148797891		2203	4300	6503	SO:0001583	missense				CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247	4110	4110			6798	protein-coding gene	gene with protein product	MAGE-11 antigen, melanoma-associated antigen 11, cancer/testis antigen family 1, member 11	300344		MAGE11	NA	8575766	Standard	NM_005366	NM_001011544	NA	Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.745C>A	X.37:g.148797891C>A	ENSP00000347358:p.Leu249Met	NA	Q5ETU4|Q6ZRZ5	37	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	8.490	0.861790	0.17178	.	.	ENSG00000185247	ENST00000412632;ENST00000333104;ENST00000355220	T;T;T	0.06068	3.35;3.35;3.35	0.976	0.0829	0.14431	.	.	.	.	.	T	0.18341	0.0440	M	0.80028	2.48	0.09310	N	1	D;D	0.63880	0.984;0.993	P;D	0.66196	0.904;0.942	T	0.09530	-1.0670	9	0.59425	D	0.04	.	3.3012	0.06984	0.0:0.6881:0.0:0.3119	.	220;249	G5E962;P43364	.;MAGAB_HUMAN	M	220;220;249	ENSP00000391496:L220M;ENSP00000328177:L220M;ENSP00000347358:L249M	ENSP00000328177:L220M	L	+	1	2	MAGEA11	148576514	0.432000	0.25554	0.004000	0.12327	0.059000	0.15707	-0.191000	0.09601	-0.041000	0.13558	-0.426000	0.05927	CTG	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058725.4		+	ENST00000355220.5	Missense_Mutation	SNP	X : 148797891 - 148797891 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	625	150
SPAG9	9043	broad.mit.edu	37	17	49075897	49075897	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:49075897C>T	ENST00000262013.7	-	15	1954	c.1746G>A	c.(1744-1746)acG>acA	p.T582T	SPAG9_ENST00000505279.1_Silent_p.T572T|SPAG9_ENST00000357122.4_Silent_p.T568T|SPAG9_ENST00000510283.1_Silent_p.T425T	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	582					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TAACATGAGACGTGGGTGCAT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	152	162			NA	NA	17		NA											NA				49075897		2203	4300	6503	SO:0001819	synonymous_variant			AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294	9043	9043			14524	protein-coding gene	gene with protein product	sperm surface protein, JNK/SAPK-associated protein, JNK interacting protein, sperm specific protein, c-Jun NH2-terminal kinase-associated leucine zipper protein, Max-binding protein, JNK-associated leucine-zipper protein, HLC-4 protein, lung cancer oncogene 4, proliferation-inducing gene 6, cancer/testis antigen 89	605430			NA	9480848, 11106729	Standard	NM_003971	NM_003971	NA	Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.1746G>A	17.37:g.49075897C>T		NA	A8MSX0|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	37	CCDS45740.1																																																																																			SPAG9-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368543.2		-	ENST00000262013.7	Silent	SNP	17 : 49075897 - 49075897 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	462	89
JPH3	57338	broad.mit.edu	37	16	87678325	87678325	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87678325G>A	ENST00000284262.2	+	2	1086	c.844G>A	c.(844-846)Gcc>Acc	p.A282T		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	282					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CGACATCGACGCCACCACCAC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA	1,4395	2.1+/-5.4	0,1,2197	85	79	81		844	4.9	1	16		81	0,8600		0,0,4300	no	missense	JPH3	NM_020655.2	58	0,1,6497	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging	282/749	87678325	1,12995	2198	4300	6498	SO:0001583	missense			AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118	57338	57338			14203	protein-coding gene	gene with protein product		605268	trinucleotide repeat containing 22	TNRC22	NA	10949023, 10891348	Standard		NM_020655	NA	Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.844G>A	16.37:g.87678325G>A	ENSP00000284262:p.Ala282Thr	NA	D3DUN2|Q8N471|Q9HDC3|Q9HDC4	37	CCDS10962.1	.	.	.	.	.	.	.	.	.	.	G	33	5.223433	0.95139	2.27E-4	0.0	ENSG00000154118	ENST00000537256;ENST00000284262	T	0.51071	0.72	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.66577	0.2803	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.66716	0.946	T	0.64622	-0.6364	10	0.26408	T	0.33	.	17.1059	0.86663	0.0:0.0:1.0:0.0	.	282	Q8WXH2	JPH3_HUMAN	T	145;282	ENSP00000284262:A282T	ENSP00000284262:A282T	A	+	1	0	JPH3	86235826	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.580000	0.98207	2.286000	0.76751	0.561000	0.74099	GCC	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269108.2		+	ENST00000284262.2	Missense_Mutation	SNP	16 : 87678325 - 87678325 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	561	163
GPR158	57512	broad.mit.edu	37	10	25887906	25887906	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:25887906C>T	ENST00000376351.3	+	11	3710	c.3351C>T	c.(3349-3351)agC>agT	p.S1117S	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1117						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						CTGGGCAGAGCGAAGAACTGC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	90	89			NA	NA	10		NA											NA				25887906		2203	4300	6503	SO:0001819	synonymous_variant			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.3351C>T	10.37:g.25887906C>T		NA	Q6QR81|Q9ULT3	37	CCDS31166.1																																																																																			GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047248.2		+	ENST00000376351.3	Silent	SNP	10 : 25887906 - 25887906 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	456	72
C5orf42	65250	broad.mit.edu	37	5	37138820	37138820	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37138820A>G	ENST00000508244.1	-	44	8724		c.e44+1		C5orf42_ENST00000274258.7_Splice_Site|C5orf42_ENST00000512288.1_Splice_Site|C5orf42_ENST00000425232.2_Splice_Site			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	NA										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTCAATGATTACCTGGAGGTG	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	123	122			NA	NA	5		NA											NA				37138820		2203	4300	6503	SO:0001630	splice_region_variant				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603	65250	65250			25801	protein-coding gene	gene with protein product		614571			NA	22264561	Standard	NM_023073	NM_023073	NA	Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.8630+1T>C	5.37:g.37138820A>G		NA		37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	A	13.94	2.387604	0.42308	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1914	0.59713	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C5orf42	37174577	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	4.857000	0.62939	2.112000	0.64535	0.533000	0.62120	.	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360806.1	Intron	-	ENST00000508244.1	Splice_Site	SNP	5 : 37138820 - 37138820 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	527	38
CYP2F1	1572	broad.mit.edu	37	19	41626311	41626311	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41626311C>A	ENST00000331105.2	+	4	466	c.394C>A	c.(394-396)Cta>Ata	p.L132I		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	132					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TATCCAGATTCTACGGAATTT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	108	109			NA	NA	19		NA											NA				41626311		2203	4300	6503	SO:0001583	missense			J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446	1572	1572		Cytochrome P450s	2632	protein-coding gene	gene with protein product		124070	cytochrome P450, subfamily IIF, polypeptide 1	CYP2F	NA		Standard		NM_000774	NA	Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.394C>A	19.37:g.41626311C>A	ENSP00000333534:p.Leu132Ile	NA	A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q8WWJ2	37	CCDS12572.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515704	0.44763	.	.	ENSG00000197446	ENST00000331105	T	0.16073	2.37	4.25	4.25	0.50352	.	0.000000	0.64402	U	0.000003	T	0.42471	0.1204	M	0.86420	2.815	0.47374	D	0.999403	D;P	0.53619	0.961;0.897	D;P	0.64776	0.929;0.882	T	0.44982	-0.9292	10	0.87932	D	0	.	10.1017	0.42509	0.0:0.9003:0.0:0.0997	.	132;132	Q32MN5;P24903	.;CP2F1_HUMAN	I	132	ENSP00000333534:L132I	ENSP00000333534:L132I	L	+	1	2	CYP2F1	46318151	0.872000	0.30054	0.787000	0.31911	0.101000	0.19017	1.741000	0.38238	2.239000	0.73571	0.562000	0.76482	CTA	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394527.2		+	ENST00000331105.2	Missense_Mutation	SNP	19 : 41626311 - 41626311 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	719	132
PIK3CG	5294	broad.mit.edu	37	7	106508946	106508946	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:106508946G>A	ENST00000359195.3	+	2	1250	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	PIK3CG_ENST00000440650.2_Missense_Mutation_p.A314T|PIK3CG_ENST00000496166.1_Missense_Mutation_p.A314T	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	314					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TCCAGACCCGGCCCTAGACGA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	54	55			NA	NA	7		NA											NA				106508946		2203	4300	6503	SO:0001583	missense				CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	5294	5294	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	phosphoinositide-3-kinase, catalytic, gamma polypeptide		NA		Standard		XM_005250443	NA	Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.940G>A	7.37:g.106508946G>A	ENSP00000352121:p.Ala314Thr	NA	Q8IV23|Q9BZC8	37	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	0.817	-0.749916	0.03041	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.70164	-0.46;-0.46;-0.46	5.75	5.75	0.90469	.	0.461354	0.26328	N	0.025014	T	0.46249	0.1383	N	0.24115	0.695	0.09310	N	0.999997	B	0.12630	0.006	B	0.10450	0.005	T	0.23297	-1.0192	10	0.14656	T	0.56	-25.7248	6.0442	0.19750	0.1118:0.0:0.7036:0.1846	.	314	P48736	PK3CG_HUMAN	T	314	ENSP00000392258:A314T;ENSP00000419260:A314T;ENSP00000352121:A314T	ENSP00000352121:A314T	A	+	1	0	PIK3CG	106296182	0.972000	0.33761	0.932000	0.37286	0.058000	0.15608	5.320000	0.65841	2.714000	0.92807	0.561000	0.74099	GCC	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349294.1		+	ENST00000359195.3	Missense_Mutation	SNP	7 : 106508946 - 106508946 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	377	23
SUFU	51684	broad.mit.edu	37	10	104352378	104352378	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104352378G>T	ENST00000369902.3	+	4	660	c.494G>T	c.(493-495)aGc>aTc	p.S165I	SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000369899.2_Missense_Mutation_p.S165I|SUFU_ENST00000423559.2_Missense_Mutation_p.S165I	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	165					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		TCCTGGCACAGCCCTTTGGAT	0.542		NA	D, F, S		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	suppressor of fused homolog (Drosophila)		O	0													130	118	122			NA	NA	10		NA											NA				104352378		2203	4300	6503	SO:0001583	missense	Familial Cancer Database		AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882	51684	51684			16466	protein-coding gene	gene with protein product		607035			NA	15367681	Standard	NM_016169	NM_016169	NA	Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.494G>T	10.37:g.104352378G>T	ENSP00000358918:p.Ser165Ile	NA	Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	37	CCDS7537.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727188	0.89390	.	.	ENSG00000107882	ENST00000369902;ENST00000369899;ENST00000423559	D;D;D	0.82711	-1.64;-1.64;-1.64	5.35	5.35	0.76521	Suppressor of fused domain (1);	0.000000	0.85682	D	0.000000	D	0.84229	0.5426	L	0.52573	1.65	0.80722	D	1	D;D;D	0.60575	0.985;0.982;0.988	P;P;P	0.49047	0.599;0.464;0.533	D	0.84571	0.0655	10	0.45353	T	0.12	-21.1564	19.0711	0.93136	0.0:0.0:1.0:0.0	.	165;165;165	Q9UMX1;Q9UMX1-2;Q9UMX1-3	SUFU_HUMAN;.;.	I	165	ENSP00000358918:S165I;ENSP00000358915:S165I;ENSP00000411597:S165I	ENSP00000358915:S165I	S	+	2	0	SUFU	104342368	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.506000	0.84524	0.561000	0.74099	AGC	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050089.1		+	ENST00000369902.3	Missense_Mutation	SNP	10 : 104352378 - 104352378 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	689	145
IL12B	3593	broad.mit.edu	37	5	158753736	158753736	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:158753736G>A	ENST00000231228.2	-	2	510	c.55C>T	c.(55-57)Ccc>Tcc	p.P19S		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B	19					cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCACGAGGGGAGATGCCAGA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	94	93			NA	NA	5		NA											NA				158753736		2203	4300	6503	SO:0001583	missense			M65290	CCDS4346.1	5q31.1-q33.1	2014-09-17	2014-04-04		ENSG00000113302	ENSG00000113302	3593	3593		Interleukins and interleukin receptors, Immunoglobulin superfamily / Immunoglobulin-like domain containing	5970	protein-coding gene	gene with protein product	natural killer cell stimulatory factor-2, cytotoxic lymphocyte maturation factor 2, p40, interleukin 12, p40, natural killer cell stimulatory factor, 40 kD subunit, interleukin-12 beta chain, IL12, subunit p40	161561	interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	NKSF2	NA	1673147	Standard	NM_002187	NM_002187	NA	Approved	CLMF, IL-12B, NKSF, CLMF2	uc003lxr.1	P29460	OTTHUMG00000130307	ENST00000231228.2:c.55C>T	5.37:g.158753736G>A	ENSP00000231228:p.Pro19Ser	NA		37	CCDS4346.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153871	0.57259	.	.	ENSG00000113302	ENST00000231228	T	0.19806	2.12	5.64	5.64	0.86602	Immunoglobulin-like (1);	0.304673	0.35903	N	0.002906	T	0.20820	0.0501	L	0.54323	1.7	0.36907	D	0.890685	B	0.22983	0.078	B	0.22880	0.042	T	0.09271	-1.0682	10	0.08837	T	0.75	-2.4995	15.5804	0.76432	0.0:0.0:1.0:0.0	.	19	P29460	IL12B_HUMAN	S	19	ENSP00000231228:P19S	ENSP00000231228:P19S	P	-	1	0	IL12B	158686314	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	3.293000	0.51779	2.832000	0.97577	0.655000	0.94253	CCC	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252652.2		-	ENST00000231228.2	Missense_Mutation	SNP	5 : 158753736 - 158753736 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	381	57
ZNF608	57507	broad.mit.edu	37	5	123984658	123984658	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:123984658G>T	ENST00000306315.5	-	4	1854	c.1419C>A	c.(1417-1419)agC>agA	p.S473R	ZNF608_ENST00000504926.1_Missense_Mutation_p.S46R	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	473						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TGGCATTGAGGCTGCCCCGCC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	77	76			NA	NA	5		NA											NA				123984658		2203	4300	6503	SO:0001583	missense			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916	57507	57507		Zinc fingers, C2H2-type	29238	protein-coding gene	gene with protein product					NA	10574462, 10508479	Standard	XM_114432	NM_020747	NA	Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.1419C>A	5.37:g.123984658G>T	ENSP00000307746:p.Ser473Arg	NA	A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	37	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158379	0.78114	.	.	ENSG00000168916	ENST00000504926;ENST00000306315;ENST00000509799;ENST00000513986	T;T	0.53640	0.64;0.61	5.26	4.36	0.52297	.	0.092629	0.85682	D	0.000000	T	0.45074	0.1324	L	0.45137	1.4	0.44036	D	0.996768	P	0.44429	0.835	B	0.44224	0.444	T	0.47086	-0.9144	10	0.72032	D	0.01	-19.4122	12.8537	0.57873	0.0817:0.0:0.9183:0.0	.	473	Q9ULD9	ZN608_HUMAN	R	46;473;473;473	ENSP00000427657:S46R;ENSP00000307746:S473R	ENSP00000307746:S473R	S	-	3	2	ZNF608	124012557	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.743000	0.47442	1.161000	0.42604	0.544000	0.68410	AGC	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000371300.1		-	ENST00000306315.5	Missense_Mutation	SNP	5 : 123984658 - 123984658 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	651	117
DOK4	55715	broad.mit.edu	37	16	57509522	57509522	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57509522A>C	ENST00000566936.1	-	3	482	c.185T>G	c.(184-186)aTc>aGc	p.I62S	DOK4_ENST00000561918.1_5'UTR|DOK4_ENST00000340099.4_Missense_Mutation_p.I62S|DOK4_ENST00000569548.1_Missense_Mutation_p.I62S			Q8TEW6	DOK4_HUMAN	docking protein 4	62	PH.						insulin receptor binding			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						GACGTTGCTGATCTCAGTCAC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	57	61			NA	NA	16		NA											NA				57509522		2198	4300	6498	SO:0001583	missense			BC003541	CCDS10783.1	16q13	2013-01-10			ENSG00000125170	ENSG00000125170	NA	55715		Pleckstrin homology (PH) domain containing	19868	protein-coding gene	gene with protein product		608333			NA	10493829	Standard		NM_018110	NA	Approved	FLJ10488	uc002elv.4	Q8TEW6	OTTHUMG00000133460	ENST00000566936.1:c.185T>G	16.37:g.57509522A>C	ENSP00000455566:p.Ile62Ser	NA	O75209|Q9BTP2|Q9NVV3	37		.	.	.	.	.	.	.	.	.	.	A	26.3	4.726227	0.89298	.	.	ENSG00000125170	ENST00000340099	T	0.73047	-0.71	5.53	5.53	0.82687	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.78616	0.4311	L	0.51422	1.61	0.58432	D	0.999998	D;D	0.76494	0.991;0.999	D;P	0.62955	0.909;0.869	T	0.80151	-0.1502	10	0.59425	D	0.04	-0.1115	14.4951	0.67680	1.0:0.0:0.0:0.0	.	62;62	Q8TEW6;B2RD67	DOK4_HUMAN;.	S	62	ENSP00000344277:I62S	ENSP00000344277:I62S	I	-	2	0	DOK4	56067023	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.236000	0.78154	2.103000	0.63969	0.528000	0.53228	ATC	DOK4-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	NA	protein_coding	OTTHUMT00000430459.1		-	ENST00000566936.1	Missense_Mutation	SNP	16 : 57509522 - 57509522 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	82	18
SYTL1	84958	broad.mit.edu	37	1	27677325	27677325	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27677325G>T	ENST00000318074.5	+	11	1177	c.1010G>T	c.(1009-1011)aGc>aTc	p.S337I	SYTL1_ENST00000543823.1_Missense_Mutation_p.S349I|SYTL1_ENST00000490170.1_3'UTR	NM_001193308.1|NM_032872.2	NP_001180237.1|NP_116261.1	Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	349	C2 1.				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CGCGTGCTGAGCCTGTCTGTG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	57	59			NA	NA	1		NA											NA				27677325		2203	4300	6503	SO:0001583	missense			AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765	84958	84958			15584	protein-coding gene	gene with protein product		608042			NA	12137562	Standard	NM_032872	NM_032872	NA	Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000318074.5:c.1010G>T	1.37:g.27677325G>T	ENSP00000316464:p.Ser337Ile	NA	Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	37	CCDS298.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.89|17.89	3.499008|3.499008	0.64298|0.64298	.|.	.|.	ENSG00000142765|ENSG00000142765	ENST00000496001|ENST00000318074;ENST00000543823;ENST00000485269	.|T;T	.|0.68903	.|-0.36;-0.36	4.49|4.49	3.49|3.49	0.39957|0.39957	.|C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.|0.153666	.|0.64402	.|D	.|0.000020	T|T	0.50480|0.50480	0.1618|0.1618	N|N	0.10645|0.10645	0.015|0.015	0.39697|0.39697	D|D	0.971122|0.971122	.|B;B	.|0.26512	.|0.151;0.041	.|B;B	.|0.42087	.|0.375;0.036	T|T	0.55509|0.55509	-0.8130|-0.8130	5|10	.|0.87932	.|D	.|0	-11.2352|-11.2352	4.4517|4.4517	0.11624|0.11624	0.2925:0.0:0.7075:0.0|0.2925:0.0:0.7075:0.0	.|.	.|349;337	.|Q8IYJ3;Q8IYJ3-2	.|SYTL1_HUMAN;.	S|I	197|337;349;102	.|ENSP00000316464:S337I;ENSP00000440704:S349I	.|ENSP00000316464:S337I	A|S	+|+	1|2	0|0	SYTL1|SYTL1	27549912|27549912	0.232000|0.232000	0.23762|0.23762	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	0.848000|0.848000	0.27710|0.27710	2.337000|2.337000	0.79520|0.79520	0.456000|0.456000	0.33151|0.33151	GCC|AGC	SYTL1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000015783.3		+	ENST00000318074.5	Missense_Mutation	SNP	1 : 27677325 - 27677325 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	342	35
ITGB3BP	23421	broad.mit.edu	37	1	63955760	63955760	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:63955760A>G	ENST00000371092.3	-	4	355	c.295T>C	c.(295-297)Tca>Cca	p.S99P	ITGB3BP_ENST00000271002.10_Missense_Mutation_p.S60P|ITGB3BP_ENST00000283568.8_Missense_Mutation_p.S60P	NM_001206739.1	NP_001193668.1	Q13352	CENPR_HUMAN	integrin beta 3 binding protein (beta3-endonexin)	60					apoptosis|cell adhesion|CenH3-containing nucleosome assembly at centromere|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm	protein C-terminus binding|signal transducer activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						TAACCATTTGATAGTCCATTT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	109	111			NA	NA	1		NA											NA				63955760		2203	4300	6503	SO:0001583	missense			U37139	CCDS30736.1, CCDS55603.1	1p31.3	2013-11-05			ENSG00000142856	ENSG00000142856	23421	23421			6157	protein-coding gene	gene with protein product	centromere protein R	605494			NA	7593198, 10490654	Standard	NM_014288	NM_014288	NA	Approved	NRIF3, HSU37139, TAP20, CENPR	uc001dbb.2	Q13352	OTTHUMG00000013364	ENST00000371092.3:c.295T>C	1.37:g.63955760A>G	ENSP00000360133:p.Ser99Pro	NA	B2R7D8|Q13353|Q5RJ42|Q5RJ44|Q5RJ45|Q7KYX2|Q96CD5|Q9UKB6	37	CCDS55603.1	.	.	.	.	.	.	.	.	.	.	A	15.58	2.874450	0.51695	.	.	ENSG00000142856	ENST00000271002;ENST00000371092;ENST00000283568	T;T;T	0.57595	0.39;0.39;0.39	5.45	0.367	0.16140	.	0.312682	0.23014	N	0.052931	T	0.23210	0.0561	L	0.59436	1.845	0.32293	N	0.56607	P;P;P	0.44380	0.834;0.552;0.757	B;B;B	0.38562	0.276;0.255;0.261	T	0.05852	-1.0860	10	0.66056	D	0.02	-0.2302	2.7656	0.05319	0.5081:0.2769:0.0779:0.1371	.	60;99;60	Q13352-2;Q13352-5;Q13352	.;.;CENPR_HUMAN	P	60;99;60	ENSP00000271002:S60P;ENSP00000360133:S99P;ENSP00000283568:S60P	ENSP00000271002:S60P	S	-	1	0	ITGB3BP	63728348	0.993000	0.37304	0.923000	0.36655	0.696000	0.40369	1.494000	0.35616	0.145000	0.18977	0.533000	0.62120	TCA	ITGB3BP-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000037243.1		-	ENST00000371092.3	Missense_Mutation	SNP	1 : 63955760 - 63955760 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	222	50
SOBP	55084	broad.mit.edu	37	6	107955419	107955419	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107955419G>A	ENST00000317357.5	+	6	2030	c.1371G>A	c.(1369-1371)tcG>tcA	p.S457S		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	457	Pro-rich.						metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CCATGCTATCGCCCCACATCC	0.751		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													9	11	10			NA	NA	6		NA											NA				107955419		1786	3974	5760	SO:0001819	synonymous_variant			AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320	55084	55084			29256	protein-coding gene	gene with protein product		613667			NA		Standard	NM_018013	NM_018013	NA	Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.1371G>A	6.37:g.107955419G>A		NA	B0QZ12|Q5BJD4|Q8N2B2	37	CCDS43488.1																																																																																			SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041693.2		+	ENST00000317357.5	Silent	SNP	6 : 107955419 - 107955419 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	182	36
PVRL2	5819	broad.mit.edu	37	19	45391366	45391366	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45391366G>T	ENST00000252483.5	+	9	1347		c.e9-1		CTB-129P6.4_ENST00000585408.1_RNA	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	NA					adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TCTACCTCCAGGAAATGCCTC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	49	48			NA	NA	19		NA											NA				45391366		2049	4190	6239	SO:0001630	splice_region_variant			X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202	5819	5819		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	9707	protein-coding gene	gene with protein product		600798		HVEB	NA	7622062, 10196354	Standard	NM_002856	NM_001042724	NA	Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1348-1G>T	19.37:g.45391366G>T		NA	O75455|Q6IBI6|Q96J29	37	CCDS42576.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268218	0.59540	.	.	ENSG00000130202	ENST00000252483	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5417	0.61679	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PVRL2	50083206	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	4.858000	0.62947	2.659000	0.90383	0.561000	0.74099	.	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453231.1	Intron	+	ENST00000252483.5	Splice_Site	SNP	19 : 45391366 - 45391366 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	390	74
ARHGEF7	8874	broad.mit.edu	37	13	111896285	111896285	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111896285T>C	ENST00000218789.5	+	6	852	c.355T>C	c.(355-357)Tac>Cac	p.Y119H	ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.Y41H|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.Y194H|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.Y119H|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.Y119H|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.Y204H|ARHGEF7_ENST00000375741.2_Missense_Mutation_p.Y297H|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.Y247H|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.Y119H|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.Y276H			Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	297	CH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GCTTTCAACGTACCTACGGCC	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	51	51			NA	NA	13		NA											NA				111896285		2203	4298	6501	SO:0001583	missense			D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606	8874	8874		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	15607	protein-coding gene	gene with protein product	SH3 domain-containing proline-rich protein, PAK-interacting exchange factor beta, rho, guanine nucleotide exchange factor 7	605477			NA	9207241, 9726964	Standard	NM_001113511	NM_003899	NA	Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000218789.5:c.355T>C	13.37:g.111896285T>C	ENSP00000218789:p.Tyr119His	NA	B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	37		.	.	.	.	.	.	.	.	.	.	T	21.0	4.076914	0.76415	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000370623;ENST00000545635;ENST00000466143;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737;ENST00000375723;ENST00000478679	T;T;T;T;T;T;T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77	4.82	4.82	0.62117	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.61949	0.2388	H	0.94222	3.51	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.999;1.0;1.0;1.0	T	0.74216	-0.3737	10	0.87932	D	0	.	14.0484	0.64719	0.0:0.0:0.0:1.0	.	41;194;41;247;297;276	E9PDQ5;B7Z6G2;B7Z344;Q14155-2;Q14155;Q14155-3	.;.;.;.;ARHG7_HUMAN;.	H	276;297;247;204;274;119;119;119;119;194;119;41	ENSP00000325994:Y276H;ENSP00000364893:Y297H;ENSP00000364891:Y247H;ENSP00000359657:Y204H;ENSP00000418067:Y119H;ENSP00000218789:Y119H;ENSP00000364888:Y119H;ENSP00000397068:Y119H;ENSP00000364889:Y194H;ENSP00000364875:Y119H;ENSP00000417596:Y41H	ENSP00000218789:Y119H	Y	+	1	0	ARHGEF7	110694286	1.000000	0.71417	0.993000	0.49108	0.979000	0.70002	6.585000	0.74062	1.787000	0.52448	0.383000	0.25322	TAC	ARHGEF7-001	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000045805.3		+	ENST00000218789.5	Missense_Mutation	SNP	13 : 111896285 - 111896285 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	223	44
GPR56	9289	broad.mit.edu	37	16	57693425	57693425	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57693425A>G	ENST00000562631.1	+	11	1919	c.1387A>G	c.(1387-1389)Aca>Gca	p.T463A	GPR56_ENST00000568908.1_Missense_Mutation_p.T463A|GPR56_ENST00000388813.5_Missense_Mutation_p.T463A|GPR56_ENST00000540164.2_Missense_Mutation_p.T463A|GPR56_ENST00000544297.1_Missense_Mutation_p.T288A|GPR56_ENST00000538815.1_Missense_Mutation_p.T463A|GPR56_ENST00000379694.4_Missense_Mutation_p.T299A|GPR56_ENST00000388812.4_Missense_Mutation_p.T469A|GPR56_ENST00000379696.3_Missense_Mutation_p.T469A|GPR56_ENST00000456916.1_Missense_Mutation_p.T469A|GPR56_ENST00000568909.1_Missense_Mutation_p.T469A|GPR56_ENST00000567835.1_Missense_Mutation_p.T469A|GPR56_ENST00000562558.1_Missense_Mutation_p.T463A			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	469					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						GGTGGCCCTGACAGGCTCTGA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	58	62			NA	NA	16		NA											NA				57693425		2198	4300	6498	SO:0001583	missense			AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336	NA	9289		-, GPCR / Class B : Orphans	4512	protein-coding gene	gene with protein product		604110			NA	10049584, 10100861	Standard		XM_005256237	NA	Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000562631.1:c.1387A>G	16.37:g.57693425A>G	ENSP00000455351:p.Thr463Ala	NA	A6NIT7|A6NJV9|B0M0K4|O95966|Q8NGB3|Q96HB4	37	CCDS32461.1	.	.	.	.	.	.	.	.	.	.	A	3.998	-0.003116	0.07773	.	.	ENSG00000205336	ENST00000388813;ENST00000388812;ENST00000538815;ENST00000456916;ENST00000540164;ENST00000544297;ENST00000379694;ENST00000379696	T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	4.9	-3.91	0.04168	GPCR, family 2-like (1);	1.372880	0.04900	N	0.451228	T	0.20577	0.0495	N	0.17474	0.49	0.09310	N	1	B;B;B;B;B	0.09022	0.0;0.002;0.001;0.002;0.001	B;B;B;B;B	0.08055	0.001;0.003;0.002;0.003;0.003	T	0.10359	-1.0633	10	0.27785	T	0.31	.	0.6742	0.00864	0.4539:0.1509:0.1772:0.218	.	288;468;463;469;299	F5H144;B4DR54;Q9Y653-2;Q9Y653;E7ENB2	.;.;.;GPR56_HUMAN;.	A	463;469;463;469;463;288;299;469	ENSP00000373465:T463A;ENSP00000373464:T469A;ENSP00000444415:T463A;ENSP00000398034:T469A;ENSP00000444911:T463A;ENSP00000438006:T288A;ENSP00000369016:T299A;ENSP00000369018:T469A	ENSP00000369016:T299A	T	+	1	0	GPR56	56250926	0.000000	0.05858	0.015000	0.15790	0.489000	0.33432	-1.526000	0.02229	-0.598000	0.05806	0.482000	0.46254	ACA	GPR56-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000433438.3		+	ENST00000562631.1	Missense_Mutation	SNP	16 : 57693425 - 57693425 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	486	91
LPHN2	23266	broad.mit.edu	37	1	82409048	82409048	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:82409048G>A	ENST00000370728.1	+	8	1438	c.793G>A	c.(793-795)Gac>Aac	p.D265N	LPHN2_ENST00000319517.6_Missense_Mutation_p.D265N|LPHN2_ENST00000370723.1_Missense_Mutation_p.D265N|LPHN2_ENST00000370727.1_Missense_Mutation_p.D265N|LPHN2_ENST00000370717.2_Missense_Mutation_p.D265N|LPHN2_ENST00000394879.1_Missense_Mutation_p.D265N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D265N|LPHN2_ENST00000370713.1_Missense_Mutation_p.D265N|LPHN2_ENST00000359929.3_Missense_Mutation_p.D265N|LPHN2_ENST00000271029.4_Missense_Mutation_p.D265N|LPHN2_ENST00000370721.1_Missense_Mutation_p.D269N|LPHN2_ENST00000335786.5_Missense_Mutation_p.D265N|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Missense_Mutation_p.D265N|LPHN2_ENST00000370725.1_Missense_Mutation_p.D265N			O95490	LPHN2_HUMAN	latrophilin 2	265	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.D265H(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GACTGATATCGACCTAGCAGT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(2)											142	135	137			NA	NA	1		NA											NA				82409048		2203	4300	6503	SO:0001583	missense			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114	23266	23266		-, GPCR / Class B : Orphans	18582	protein-coding gene	gene with protein product		607018	latrophilin 1	LPHH1	NA	10760572	Standard	NM_012302	XR_248786	NA	Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.793G>A	1.37:g.82409048G>A	ENSP00000359763:p.Asp265Asn	NA	B1ALT8|B1ALT9|B1ALU0|O94882|Q5VX76|Q9UKY5|Q9UKY6	37		.	.	.	.	.	.	.	.	.	.	G	22.7	4.324477	0.81580	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.94280	-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.97420	0.9156	M	0.91872	3.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.988;0.964;0.988	D	0.97952	1.0332	10	0.87932	D	0	.	19.4356	0.94792	0.0:0.0:1.0:0.0	.	265;265;265	O95490-3;O95490-4;O95490-2	.;.;.	N	269;265;265;265;265;265;265;265;265;265;265;265;265;265	ENSP00000359756:D269N;ENSP00000359763:D265N;ENSP00000359765:D265N;ENSP00000359762:D265N;ENSP00000359760:D265N;ENSP00000359758:D265N;ENSP00000353006:D265N;ENSP00000359750:D265N;ENSP00000359748:D265N;ENSP00000322270:D265N;ENSP00000359752:D265N;ENSP00000378344:D265N;ENSP00000271029:D265N;ENSP00000337306:D265N	ENSP00000271029:D265N	D	+	1	0	LPHN2	82181636	1.000000	0.71417	0.990000	0.47175	0.981000	0.71138	9.476000	0.97823	2.591000	0.87537	0.455000	0.32223	GAC	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000027188.1		+	ENST00000370728.1	Missense_Mutation	SNP	1 : 82409048 - 82409048 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	533	111
DHRSX	207063	broad.mit.edu	37	X	2139202	2139202	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2139202G>A	ENST00000334651.5	-	7	925	c.873C>T	c.(871-873)ggC>ggT	p.G291G		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	291							binding|oxidoreductase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				ATAGGTAATGGCCACCAACTC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													269	236	247			NA	NA	X		NA											NA				2139202		2203	4296	6499	SO:0001819	synonymous_variant			AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084	207063	207063		Pseudoautosomal regions / PAR1	18399	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 7C, member 6, short chain dehydrogenase/reductase family 46C, member 1, dehydrogenase/reductase (SDR family) Y-linked		dehydrogenase/reductase (SDR family) X chromosome		NA	11731500, 19027726	Standard	NM_145177	NM_145177	NA	Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.873C>T	X.37:g.2139202G>A		NA	Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	37	CCDS35195.1																																																																																			DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055617.3		-	ENST00000334651.5	Silent	SNP	X : 2139202 - 2139202 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	107
TMEM214	54867	broad.mit.edu	37	2	27263359	27263359	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27263359A>G	ENST00000238788.9	+	16	2000	c.1938A>G	c.(1936-1938)gcA>gcG	p.A646A	TMEM214_ENST00000404032.3_Silent_p.A601A	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	646						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GCCATGAGGCATGCAGGTGAG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	52	52			NA	NA	2		NA											NA				27263359		1985	4148	6133	SO:0001819	synonymous_variant				CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777	54867	54867			25983	protein-coding gene	gene with protein product					NA	23661706	Standard	NM_017727	NM_001083590	NA	Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.1938A>G	2.37:g.27263359A>G		NA	A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	37	CCDS42664.1																																																																																			TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324748.1		+	ENST00000238788.9	Silent	SNP	2 : 27263359 - 27263359 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	396	101
PLXND1	23129	broad.mit.edu	37	3	129284287	129284287	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129284287C>T	ENST00000324093.4	-	25	4595	c.4417G>A	c.(4417-4419)Gcc>Acc	p.A1473T	PLXND1_ENST00000393239.1_Missense_Mutation_p.A1473T	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1473					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GCGGCCGAGGCGTCAATGAGG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(97;366 1484 3738 22084 39045)							NA				0													111	95	100			NA	NA	3		NA											NA				129284287		2203	4300	6503	SO:0001583	missense			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399	23129	23129		Plexins	9107	protein-coding gene	gene with protein product		604282			NA	12412018	Standard	NM_015103	NM_015103	NA	Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.4417G>A	3.37:g.129284287C>T	ENSP00000317128:p.Ala1473Thr	NA	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	37	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.885735	0.33255	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.11712	2.75;2.75	4.96	4.96	0.65561	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.142434	0.46442	D	0.000293	T	0.19644	0.0472	L	0.36672	1.1	0.44807	D	0.997812	P;D	0.69078	0.572;0.997	B;P	0.59424	0.09;0.857	T	0.00443	-1.1736	10	0.72032	D	0.01	.	13.2338	0.59958	0.1589:0.8411:0.0:0.0	.	68;1473	B4DRU3;Q9Y4D7	.;PLXD1_HUMAN	T	1473	ENSP00000317128:A1473T;ENSP00000376931:A1473T	ENSP00000317128:A1473T	A	-	1	0	PLXND1	130766977	0.996000	0.38824	1.000000	0.80357	0.132000	0.20833	3.060000	0.49955	2.294000	0.77228	0.561000	0.74099	GCC	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356132.4		-	ENST00000324093.4	Missense_Mutation	SNP	3 : 129284287 - 129284287 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	448	84
SLC2A6	11182	broad.mit.edu	37	9	136337180	136337180	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136337180G>A	ENST00000371899.4	-	10	1564	c.1487C>T	c.(1486-1488)tCc>tTc	p.S496F	SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Missense_Mutation_p.S434F	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	496						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GCGGAAGAAGGACTCGATCTG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	96	101			NA	NA	9		NA											NA				136337180		2203	4300	6503	SO:0001583	missense			AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326	11182	11182		Solute carriers	11011	protein-coding gene	gene with protein product		606813			NA	10970791	Standard	NM_017585	NM_001145099	NA	Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.1487C>T	9.37:g.136337180G>A	ENSP00000360966:p.Ser496Phe	NA	A6NNU6|Q5SXD7|Q8NCC2	37	CCDS6975.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.851904	0.32699	.	.	ENSG00000160326	ENST00000371897;ENST00000371899	D;T	0.81739	-1.53;-0.85	4.78	3.86	0.44501	.	0.481200	0.23666	N	0.045766	D	0.82346	0.5017	L	0.42632	1.34	0.26555	N	0.973838	P;P	0.50819	0.874;0.939	P;P	0.55455	0.568;0.776	T	0.75918	-0.3148	10	0.51188	T	0.08	.	14.0612	0.64802	0.0:0.152:0.848:0.0	.	434;496	Q9UGQ3-2;Q9UGQ3	.;GTR6_HUMAN	F	434;496	ENSP00000360964:S434F;ENSP00000360966:S496F	ENSP00000360964:S434F	S	-	2	0	SLC2A6	135327001	1.000000	0.71417	0.990000	0.47175	0.268000	0.26511	3.358000	0.52284	1.222000	0.43521	0.650000	0.86243	TCC	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054909.1		-	ENST00000371899.4	Missense_Mutation	SNP	9 : 136337180 - 136337180 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	383	85
HECTD1	25831	broad.mit.edu	37	14	31647447	31647447	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31647447T>C	ENST00000399332.1	-	3	642	c.154A>G	c.(154-156)Act>Gct	p.T52A	HECTD1_ENST00000553700.1_Missense_Mutation_p.T52A	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	52					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GGTAAGAAAGTGCGAGGAGGA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	58	59			NA	NA	14		NA											NA				31647447		1851	4087	5938	SO:0001583	missense			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148	25831	25831		Ankyrin repeat domain containing	20157	protein-coding gene	gene with protein product			HECT domain containing 1		NA	10574461	Standard		XM_005267502	NA	Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.154A>G	14.37:g.31647447T>C	ENSP00000382269:p.Thr52Ala	NA	Q6P445|Q86VJ1|Q96F34|Q9UFZ7	37	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.572636	0.86542	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000556224	T;T;T	0.33216	1.42;1.42;1.42	5.11	5.11	0.69529	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.55924	0.1951	M	0.82323	2.585	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.59590	-0.7426	10	0.42905	T	0.14	-15.7729	15.1789	0.72938	0.0:0.0:0.0:1.0	.	52	Q9ULT8	HECD1_HUMAN	A	52	ENSP00000450697:T52A;ENSP00000382269:T52A;ENSP00000452015:T52A	ENSP00000261312:T52A	T	-	1	0	HECTD1	30717198	1.000000	0.71417	0.992000	0.48379	0.972000	0.66771	7.655000	0.83696	2.047000	0.60756	0.397000	0.26171	ACT	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409942.1		-	ENST00000399332.1	Missense_Mutation	SNP	14 : 31647447 - 31647447 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	330	56
CHD6	84181	broad.mit.edu	37	20	40118638	40118638	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40118638T>C	ENST00000373233.3	-	12	1637	c.1460A>G	c.(1459-1461)gAg>gGg	p.E487G	CHD6_ENST00000309279.7_Missense_Mutation_p.E487G	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	487	Helicase ATP-binding.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TAGGCCCATCTCATCAGCCAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	131	127			NA	NA	20		NA											NA				40118638		2203	4300	6503	SO:0001583	missense			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177	NA	84181			19057	protein-coding gene	gene with protein product					NA	11889561	Standard		NM_032221	NA	Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.1460A>G	20.37:g.40118638T>C	ENSP00000362330:p.Glu487Gly	NA	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	37	CCDS13317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.9|25.9	4.689115|4.689115	0.88735|0.88735	.|.	.|.	ENSG00000124177|ENSG00000124177	ENST00000373233;ENST00000309279|ENST00000440697	D;D|.	0.95788|.	-3.81;-3.81|.	5.27|5.27	5.27|5.27	0.74061|0.74061	DEAD-like helicase (2);SNF2-related (1);|.	0.000000|.	0.56097|.	D|.	0.000027|.	D|D	0.88897|0.88897	0.6562|0.6562	H|H	0.98646|0.98646	4.29|4.29	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.93199|0.93199	0.6590|0.6590	10|5	0.87932|.	D|.	0|.	-25.288|-25.288	15.4838|15.4838	0.75548|0.75548	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	487|.	Q8TD26|.	CHD6_HUMAN|.	G|G	487|190	ENSP00000362330:E487G;ENSP00000308684:E487G|.	ENSP00000308684:E487G|.	E|R	-|-	2|1	0|2	CHD6|CHD6	39552052|39552052	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.967000|7.967000	0.87967|0.87967	2.108000|2.108000	0.64289|0.64289	0.528000|0.528000	0.53228|0.53228	GAG|AGA	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079270.1		-	ENST00000373233.3	Missense_Mutation	SNP	20 : 40118638 - 40118638 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	730	28
RAET1L	154064	broad.mit.edu	37	6	150343282	150343282	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:150343282A>C	ENST00000367341.1	-	2	182	c.183T>G	c.(181-183)ttT>ttG	p.F61L	RAET1L_ENST00000286380.2_Missense_Mutation_p.F61L			Q5VY80	RET1L_HUMAN	retinoic acid early transcript 1L	61	MHC class I alpha-1 like (By similarity).				antigen processing and presentation|immune response	anchored to membrane|MHC class I protein complex				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)		CATAGTGAAGAAAAGTCTTTT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	94	100			NA	NA	6		NA											NA				150343282		2199	4300	6499	SO:0001583	missense			AY039682	CCDS5224.1	6q24.1-25.1	2008-02-05			ENSG00000155918	ENSG00000155918	154064	154064			16798	protein-coding gene	gene with protein product		611047			NA	11827464	Standard	NM_130900	NM_130900	NA	Approved		uc011eei.2	Q5VY80	OTTHUMG00000015809	ENST00000367341.1:c.183T>G	6.37:g.150343282A>C	ENSP00000356310:p.Phe61Leu	NA	A3KME4|Q8TE74	37	CCDS5224.1	.	.	.	.	.	.	.	.	.	.	a	12.84	2.058711	0.36277	.	.	ENSG00000155918	ENST00000367341;ENST00000286380	T;T	0.01295	5.04;5.04	1.91	0.704	0.18121	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.01730	0.0055	M	0.75264	2.295	0.09310	N	1	D	0.60575	0.988	P	0.58391	0.838	T	0.44314	-0.9336	9	0.72032	D	0.01	.	3.7235	0.08466	0.7951:0.0:0.2049:0.0	.	61	Q5VY80	RET1L_HUMAN	L	61	ENSP00000356310:F61L;ENSP00000286380:F61L	ENSP00000286380:F61L	F	-	3	2	RAET1L	150384975	0.000000	0.05858	0.002000	0.10522	0.080000	0.17528	-1.225000	0.02956	0.196000	0.20367	0.402000	0.26972	TTT	RAET1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042676.1		-	ENST00000367341.1	Missense_Mutation	SNP	6 : 150343282 - 150343282 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	480	104
KCNQ5	56479	broad.mit.edu	37	6	73900337	73900337	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:73900337C>T	ENST00000342056.2	+	13	2074	c.1676C>T	c.(1675-1677)aCa>aTa	p.T559I	KCNQ5_ENST00000355635.3_Missense_Mutation_p.T541I|KCNQ5_ENST00000355194.4_Missense_Mutation_p.T540I|KCNQ5_ENST00000414165.2_Missense_Mutation_p.T430I|KCNQ5_ENST00000403813.2_Missense_Mutation_p.T531I|KCNQ5_ENST00000402622.2_Missense_Mutation_p.T550I|KCNQ5_ENST00000370398.1_Missense_Mutation_p.T540I	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	540					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TTTAAGGAAACATTACGTCCA	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(142;1375 1859 14391 23261 44706)							NA				0													88	78	82			NA	NA	6		NA											NA				73900337		2203	4300	6503	SO:0001583	missense			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760	56479	56479		Potassium channels, Voltage-gated ion channels / Potassium channels	6299	protein-coding gene	gene with protein product		607357			NA	10787416, 10816588, 16382104	Standard	NM_019842	NM_019842	NA	Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000342056.2:c.1676C>T	6.37:g.73900337C>T	ENSP00000345055:p.Thr559Ile	NA	B5MC83|B7ZL37|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	37	CCDS55034.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359449	0.82353	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99719	-6.52;-6.52;-6.52;-6.52;-6.52;-6.52;-6.52	5.02	5.02	0.67125	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99654	0.9872	M	0.76574	2.34	0.39638	D	0.970273	D;D;P;P;D	0.89917	0.999;1.0;0.954;0.858;1.0	D;D;P;P;D	0.85130	0.931;0.991;0.771;0.661;0.997	D	0.97990	1.0354	10	0.87932	D	0	.	18.3416	0.90307	0.0:1.0:0.0:0.0	.	430;550;559;531;540	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	I	559;559;540;540;550;541;531;430	ENSP00000345055:T559I;ENSP00000347326:T540I;ENSP00000359425:T540I;ENSP00000385501:T550I;ENSP00000347853:T541I;ENSP00000384453:T531I;ENSP00000409861:T430I	ENSP00000345055:T559I	T	+	2	0	KCNQ5	73957058	1.000000	0.71417	0.960000	0.40013	0.742000	0.42306	7.814000	0.86154	2.301000	0.77427	0.643000	0.83706	ACA	KCNQ5-006	NOVEL	not_organism_supported|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316124.1		+	ENST00000342056.2	Missense_Mutation	SNP	6 : 73900337 - 73900337 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	161	25
FBXL3	26224	broad.mit.edu	37	13	77595939	77595939	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77595939C>A	ENST00000355619.5	-	2	381	c.57G>T	c.(55-57)gaG>gaT	p.E19D		NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	19					regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TCTTGGATTTCTCTGCAGTTC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	152	148			NA	NA	13		NA											NA				77595939		2203	4300	6503	SO:0001583	missense			AF129532	CCDS9457.1	13q22	2011-06-09	2004-07-20	2004-07-21	ENSG00000005812	ENSG00000005812	26224	26224		F-boxes / Leucine-rich repeats	13599	protein-coding gene	gene with protein product		605653	F-box and leucine-rich repeat protein 3A	FBXL3A	NA	10531035, 10828603	Standard		NM_012158	NA	Approved	FBL3, FBL3A	uc001vkd.3	Q9UKT7	OTTHUMG00000017099	ENST00000355619.5:c.57G>T	13.37:g.77595939C>A	ENSP00000347834:p.Glu19Asp	NA	B2RB04|Q9P122	37	CCDS9457.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133939	0.37630	.	.	ENSG00000005812	ENST00000355619;ENST00000417323	T;T	0.35789	1.45;1.29	5.96	1.71	0.24356	.	0.332847	0.34906	N	0.003593	T	0.13114	0.0318	N	0.08118	0	0.40094	D	0.976287	B	0.02656	0.0	B	0.01281	0.0	T	0.09058	-1.0692	10	0.17369	T	0.5	-17.2596	1.574	0.02621	0.1378:0.3734:0.1359:0.3529	.	19	Q9UKT7	FBXL3_HUMAN	D	19	ENSP00000347834:E19D;ENSP00000412183:E19D	ENSP00000347834:E19D	E	-	3	2	FBXL3	76493940	0.999000	0.42202	0.999000	0.59377	0.931000	0.56810	1.126000	0.31344	0.397000	0.25310	0.655000	0.94253	GAG	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045312.3		-	ENST00000355619.5	Missense_Mutation	SNP	13 : 77595939 - 77595939 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	922	172
LILRA4	23547	broad.mit.edu	37	19	54849305	54849305	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54849305G>A	ENST00000291759.4	-	4	613	c.557C>T	c.(556-558)aCc>aTc	p.T186I		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	186	Ig-like C2-type 2.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GTTGCTGAAGGTCAGGGGGCC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	76	80			NA	NA	19		NA											NA				54849305		2203	4300	6503	SO:0001583	missense			AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961	23547	23547		Leukocyte immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	15503	protein-coding gene	gene with protein product		607517			NA	10941842	Standard	NM_012276	NM_012276	NA	Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.557C>T	19.37:g.54849305G>A	ENSP00000291759:p.Thr186Ile	NA	Q32MC4	37	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	9.285	1.049228	0.19827	.	.	ENSG00000239961	ENST00000291759	T	0.03831	3.79	2.76	-5.52	0.02560	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.845757	0.10283	N	0.693289	T	0.06690	0.0171	M	0.83012	2.62	0.09310	N	1	B	0.29571	0.249	B	0.30572	0.117	T	0.21245	-1.0251	10	0.62326	D	0.03	.	2.6998	0.05145	0.2127:0.4668:0.186:0.1345	.	186	P59901	LIRA4_HUMAN	I	186	ENSP00000291759:T186I	ENSP00000291759:T186I	T	-	2	0	LILRA4	59541117	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.254000	0.02874	-1.571000	0.01663	-0.244000	0.11960	ACC	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000140229.2		-	ENST00000291759.4	Missense_Mutation	SNP	19 : 54849305 - 54849305 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	252	35
MSH6	2956	broad.mit.edu	37	2	48033396	48033396	+	Nonsense_Mutation	SNP	G	G	T	rs35717727	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48033396G>T	ENST00000234420.5	+	8	3852	c.3700G>T	c.(3700-3702)Gaa>Taa	p.E1234*	MSH6_ENST00000538136.1_Nonsense_Mutation_p.E932*|MSH6_ENST00000540021.1_Nonsense_Mutation_p.E1104*|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	NA			E -> Q (in dbSNP:rs35717727).		determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGTTGTTAAAGAACTTGCTGA	0.343		NA	Mis, N, F, S		colorectal	colorectal, endometrial, ovarian		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											94	89	91			NA	NA	2		NA											NA				48033396		2203	4300	6503	SO:0001587	stop_gained	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062	2956	2956			7329	protein-coding gene	gene with protein product		600678	mutS (E. coli) homolog 6, mutS homolog 6 (E. coli)	GTBP	NA	7604266	Standard	NM_000179	NM_000179	NA	Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.3700G>T	2.37:g.48033396G>T	ENSP00000234420:p.Glu1234*	NA	O43706|O43917|Q8TCX4|Q9BTB5	37	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	G	47	13.267563	0.99731	.	.	ENSG00000116062	ENST00000234420;ENST00000543270;ENST00000540021;ENST00000538136	.	.	.	5.5	5.5	0.81552	.	0.091222	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-22.6663	19.5916	0.95514	0.0:0.0:1.0:0.0	.	.	.	.	X	1234;200;1104;932	.	ENSP00000234420:E1234X	E	+	1	0	MSH6	47886900	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	9.376000	0.97181	2.861000	0.98227	0.655000	0.94253	GAA	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251180.4		+	ENST00000234420.5	Nonsense_Mutation	SNP	2 : 48033396 - 48033396 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	298	55
SEZ6L2	26470	broad.mit.edu	37	16	29888137	29888137	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29888137C>T	ENST00000308713.5	-	12	2571	c.2044G>A	c.(2044-2046)Gac>Aac	p.D682N	SEZ6L2_ENST00000346932.5_Missense_Mutation_p.D568N|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.D638N|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.D612N	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	682	Sushi 3.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGAGAATGTCGGAGCCTAGC	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	20	20			NA	NA	16		NA											NA				29888137		2194	4299	6493	SO:0001583	missense			AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938	26470	26470			30844	protein-coding gene	gene with protein product	type I transmembrane receptor (seizure related protein)				NA	12975309	Standard	NM_012410	NM_012410	NA	Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.2044G>A	16.37:g.29888137C>T	ENSP00000312550:p.Asp682Asn	NA	Q9UJ45|Q9UJ46|Q9UJ47	37	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234224	0.79688	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.57	4.62	0.57501	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000016	T	0.68302	0.2986	L	0.29908	0.895	0.80722	D	1	B;B;B;D;D;P	0.89917	0.027;0.101;0.385;1.0;1.0;0.487	B;B;B;D;D;B	0.91635	0.008;0.025;0.07;0.999;0.998;0.062	T	0.68804	-0.5312	10	0.44086	T	0.13	.	13.6591	0.62357	0.0:0.9238:0.0:0.0762	.	638;682;568;612;682;612	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	N	612;682;568;638	ENSP00000310206:D612N;ENSP00000312550:D682N;ENSP00000319215:D568N;ENSP00000439412:D638N	ENSP00000312550:D682N	D	-	1	0	SEZ6L2	29795638	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	4.658000	0.61497	1.350000	0.45770	0.655000	0.94253	GAC	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255154.2		-	ENST00000308713.5	Missense_Mutation	SNP	16 : 29888137 - 29888137 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	101	15
FERMT3	83706	broad.mit.edu	37	11	63987987	63987987	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63987987G>T	ENST00000279227.5	+	12	1498	c.1403G>T	c.(1402-1404)aGc>aTc	p.S468I	FERMT3_ENST00000345728.5_Missense_Mutation_p.S464I	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	468	FERM.				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						AGCTACACCAGCGAGGTGCAG	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	15	14			NA	NA	11		NA											NA				63987987		2184	4270	6454	SO:0001583	missense			L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781	83706	83706		Fermitins, Pleckstrin homology (PH) domain containing	23151	protein-coding gene	gene with protein product	kindlin-3	607901	fermitin family homolog 3 (Drosophila)		NA		Standard	NM_031471	NM_178443	NA	Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.1403G>T	11.37:g.63987987G>T	ENSP00000279227:p.Ser468Ile	NA	Q8IUA1|Q8N207|Q9BT48	37	CCDS8060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.849|8.849	0.944161|0.944161	0.18281|0.18281	.|.	.|.	ENSG00000149781|ENSG00000149781	ENST00000545896|ENST00000345728;ENST00000279227	T|T;T	0.56941|0.71579	0.43|-0.58;-0.58	4.31|4.31	4.31|4.31	0.51392|0.51392	.|Band 4.1 domain (1);FERM central domain (2);	.|0.149940	.|0.64402	.|D	.|0.000020	T|T	0.70456|0.70456	0.3226|0.3226	L|L	0.50333|0.50333	1.59|1.59	0.47245|0.47245	D|D	0.999366|0.999366	.|P;P	.|0.46277	.|0.875;0.753	.|P;P	.|0.48795	.|0.454;0.59	T|T	0.71764|0.71764	-0.4494|-0.4494	7|10	0.49607|0.46703	T|T	0.09|0.11	-27.66|-27.66	12.5477|12.5477	0.56210|0.56210	0.0:0.1693:0.8307:0.0|0.0:0.1693:0.8307:0.0	.|.	.|464;468	.|Q86UX7-2;Q86UX7	.|.;URP2_HUMAN	S|I	27|464;468	ENSP00000440209:A27S|ENSP00000339950:S464I;ENSP00000279227:S468I	ENSP00000440209:A27S|ENSP00000279227:S468I	A|S	+|+	1|2	0|0	FERMT3|FERMT3	63744563|63744563	0.055000|0.055000	0.20627|0.20627	0.983000|0.983000	0.44433|0.44433	0.057000|0.057000	0.15508|0.15508	1.991000|1.991000	0.40727|0.40727	2.395000|2.395000	0.81488|0.81488	0.561000|0.561000	0.74099|0.74099	GCG|AGC	FERMT3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396297.1		+	ENST00000279227.5	Missense_Mutation	SNP	11 : 63987987 - 63987987 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	123	28
FHL3	2275	broad.mit.edu	37	1	38463501	38463501	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38463501C>T	ENST00000373016.3	-	5	711	c.543G>A	c.(541-543)tgG>tgA	p.W181*	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	181	LIM zinc-binding 3.				muscle organ development		zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ATTCTCGATGCCACGGCTGAT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	75	76			NA	NA	1		NA											NA				38463501		2203	4300	6503	SO:0001587	stop_gained			BC011697	CCDS30678.1	1p34.3	2008-02-05			ENSG00000183386	ENSG00000183386	2275	2275			3704	protein-coding gene	gene with protein product		602790			NA	8753811, 10226657	Standard	NM_004468	NM_004468	NA	Approved	SLIM2	uc001cck.3	Q13643	OTTHUMG00000004434	ENST00000373016.3:c.543G>A	1.37:g.38463501C>T	ENSP00000362107:p.Trp181*	NA	D3DPT6|Q6I9T0|Q9BVA2	37	CCDS30678.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046342	0.93740	.	.	ENSG00000183386	ENST00000373016	.	.	.	5.01	4.03	0.46877	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.132	0.65260	0.1508:0.8492:0.0:0.0	.	.	.	.	X	181	.	ENSP00000362107:W181X	W	-	3	0	FHL3	38236088	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	4.849000	0.62882	2.343000	0.79666	0.313000	0.20887	TGG	FHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000012958.1		-	ENST00000373016.3	Nonsense_Mutation	SNP	1 : 38463501 - 38463501 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	34
ZCCHC4	29063	broad.mit.edu	37	4	25370758	25370758	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25370758A>G	ENST00000302874.4	+	13	1538	c.1514A>G	c.(1513-1515)gAa>gGa	p.E505G		NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	505							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				AAAAGGAGGGAAAGAGCCCAT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	98	101			NA	NA	4		NA											NA				25370758		1856	4120	5976	SO:0001583	missense			AF161537	CCDS43218.1	4p15.31	2014-02-18			ENSG00000168228	ENSG00000168228	29063	29063		Zinc fingers, CCHC domain containing	22917	protein-coding gene	gene with protein product	zinc finger, GRF-type containing 4	611792			NA	11042152	Standard		NM_024936	NA	Approved	HSPC052, FLJ23024, ZGRF4	uc003grl.4	Q9H5U6	OTTHUMG00000160563	ENST00000302874.4:c.1514A>G	4.37:g.25370758A>G	ENSP00000303468:p.Glu505Gly	NA	B2RXF6|Q5IW78|Q96AN7	37	CCDS43218.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.593813	0.46214	.	.	ENSG00000168228	ENST00000302874	T	0.32272	1.46	5.81	3.39	0.38822	.	1.110990	0.06650	N	0.762600	T	0.23330	0.0564	N	0.22421	0.69	0.23144	N	0.998221	B	0.06786	0.001	B	0.04013	0.001	T	0.21827	-1.0234	10	0.59425	D	0.04	3.3457	8.192	0.31374	0.8395:0.0:0.1605:0.0	.	505	Q9H5U6	ZCHC4_HUMAN	G	505	ENSP00000303468:E505G	ENSP00000303468:E505G	E	+	2	0	ZCCHC4	24979856	0.998000	0.40836	0.963000	0.40424	0.930000	0.56654	2.267000	0.43329	1.043000	0.40175	0.482000	0.46254	GAA	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361151.1		+	ENST00000302874.4	Missense_Mutation	SNP	4 : 25370758 - 25370758 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	449	103
ARFGAP1	55738	broad.mit.edu	37	20	61907992	61907992	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61907992T>G	ENST00000370275.4	+	4	423	c.331T>G	c.(331-333)Ttt>Gtt	p.F111V	ARFGAP1_ENST00000353546.3_Missense_Mutation_p.F111V|ARFGAP1_ENST00000547204.1_Missense_Mutation_p.F37V|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.F58V|ARFGAP1_ENST00000519273.2_Silent_p.S31S|ARFGAP1_ENST00000370283.4_Missense_Mutation_p.F111V	NM_001281482.1	NP_001268411.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	111	Arf-GAP.				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					CGCGGCCCTCTTTAGGGATAA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	46	48			NA	NA	20		NA											NA				61907992		2203	4300	6503	SO:0001583	missense			AK001629	CCDS13515.1, CCDS13516.1, CCDS63326.1, CCDS63327.1, CCDS63328.1	20q13.33	2009-11-30	2002-08-20	2002-08-23	ENSG00000101199	ENSG00000101199	55738	55738		ADP-ribosylation factor GTPase activating proteins	15852	protein-coding gene	gene with protein product		608377	ADP-ribosylation factor 1 GTPase activating protein	ARF1GAP	NA	11210549	Standard	NM_018209	NM_018209	NA	Approved	FLJ10767, bA261N11.3	uc002yel.3	Q8N6T3	OTTHUMG00000032965	ENST00000370275.4:c.331T>G	20.37:g.61907992T>G	ENSP00000359298:p.Phe111Val	NA	B7ZBI3|E1P5I9|Q6PK71|Q96KC4|Q96T02|Q9NSU3|Q9NVF6|Q9UIL0	37		.	.	.	.	.	.	.	.	.	.	T	19.55	3.849298	0.71603	.	.	ENSG00000101199	ENST00000370283;ENST00000547204;ENST00000549047;ENST00000519604;ENST00000370275;ENST00000518601;ENST00000353546;ENST00000522403;ENST00000550188	T;T;T;T;T;T;T;T;T	0.54071	0.85;0.59;0.68;0.85;0.85;0.7;0.85;0.85;0.85	4.76	4.76	0.60689	.	0.052580	0.85682	D	0.000000	T	0.65995	0.2745	L	0.52573	1.65	0.80722	D	1	P;D;P;P	0.63046	0.955;0.992;0.791;0.793	P;D;P;P	0.68483	0.902;0.958;0.68;0.683	T	0.69745	-0.5062	10	0.87932	D	0	0.8551	14.5528	0.68078	0.0:0.0:0.0:1.0	.	58;111;111;111	E7EV62;B7ZBI2;Q8N6T3;Q8N6T3-2	.;.;ARFG1_HUMAN;.	V	111;37;37;58;111;37;111;111;111	ENSP00000359306:F111V;ENSP00000449800:F37V;ENSP00000447037:F37V;ENSP00000430500:F58V;ENSP00000359298:F111V;ENSP00000429674:F37V;ENSP00000314615:F111V;ENSP00000430929:F111V;ENSP00000449515:F111V	ENSP00000314615:F111V	F	+	1	0	ARFGAP1	61378437	1.000000	0.71417	0.998000	0.56505	0.562000	0.35680	7.555000	0.82223	1.900000	0.55004	0.460000	0.39030	TTT	ARFGAP1-004	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000316915.2		+	ENST00000370275.4	Missense_Mutation	SNP	20 : 61907992 - 61907992 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	39
CD320	51293	broad.mit.edu	37	19	8367489	8367489	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8367489G>A	ENST00000301458.5	-	5	771	c.707C>T	c.(706-708)gCg>gTg	p.A236V	CD320_ENST00000537716.2_Splice_Site_p.A194V	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN	CD320 molecule	236	Poly-Ala.				regulation of cell growth	endoplasmic reticulum|integral to membrane	growth factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						ACTGAGCACCGCTGTGGGGAA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	41	41			NA	NA	19		NA											NA				8367489		2203	4300	6503	SO:0001630	splice_region_variant			AF161254	CCDS12198.1, CCDS54210.1	19p13.3-p13.2	2008-02-05	2006-03-28			ENSG00000167775	51293	51293		CD molecules	16692	protein-coding gene	gene with protein product	8D6 antigen	606475	CD320 antigen		NA	10727470	Standard	NM_016579	NM_016579	NA	Approved	8D6, 8D6A	uc002mjj.2	Q9NPF0		ENST00000301458.5:c.707-1C>T	19.37:g.8367489G>A		NA	B2RDS5|D6W668|Q53HF7	37	CCDS12198.1	.	.	.	.	.	.	.	.	.	.	G	5.969	0.362724	0.11296	.	.	ENSG00000167775	ENST00000301458;ENST00000537716	D;D	0.96856	-3.14;-4.15	4.04	-8.08	0.01094	.	1.298340	0.05497	N	0.557812	D	0.87581	0.6213	N	0.08118	0	0.09310	N	1	B;B	0.14012	0.009;0.003	B;B	0.06405	0.002;0.001	T	0.80025	-0.1555	10	0.13853	T	0.58	.	10.0455	0.42184	0.2222:0.1237:0.6542:0.0	.	194;236	F5H6D3;Q9NPF0	.;CD320_HUMAN	V	236;194	ENSP00000301458:A236V;ENSP00000437697:A194V	ENSP00000301458:A236V	A	-	2	0	CD320	8273489	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.128000	0.03247	-1.940000	0.01043	-1.127000	0.01993	GCG	CD320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461366.1	Missense_Mutation	-	ENST00000301458.5	Splice_Site	SNP	19 : 8367489 - 8367489 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	345	65
ZNF516	9658	broad.mit.edu	37	18	74091857	74091857	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74091857C>T	ENST00000443185.2	-	4	2530	c.2213G>A	c.(2212-2214)aGg>aAg	p.R738K	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	738					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CCGCGTCGACCTCGCACTTAA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	54	52			NA	NA	18		NA											NA				74091857		2017	4172	6189	SO:0001583	missense			D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493	9658	9658		Zinc fingers, C2H2-type	28990	protein-coding gene	gene with protein product		615114			NA	9039502	Standard	NM_014643	NM_014643	NA	Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.2213G>A	18.37:g.74091857C>T	ENSP00000394757:p.Arg738Lys	NA		37		.	.	.	.	.	.	.	.	.	.	C	0.392	-0.922902	0.02377	.	.	ENSG00000101493	ENST00000443185	T	0.09073	3.02	4.55	0.168	0.15012	.	0.745817	0.12140	N	0.495931	T	0.02455	0.0075	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44862	-0.9300	9	0.02654	T	1	-16.5927	2.3624	0.04310	0.4105:0.3026:0.0:0.2869	.	738	Q92618	ZN516_HUMAN	K	738	ENSP00000394757:R738K	ENSP00000394757:R738K	R	-	2	0	ZNF516	72220845	0.817000	0.29147	0.010000	0.14722	0.004000	0.04260	1.027000	0.30115	0.122000	0.18314	0.655000	0.94253	AGG	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding			-	ENST00000443185.2	Missense_Mutation	SNP	18 : 74091857 - 74091857 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	227	36
WDR48	57599	broad.mit.edu	37	3	39111170	39111170	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39111170C>A	ENST00000302313.5	+	7	635	c.607C>A	c.(607-609)Cta>Ata	p.L203I	WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000544962.1_Intron|WDR48_ENST00000396258.3_Missense_Mutation_p.L121I	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	203					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ATGTGCAAAACTAATGAAGCT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	153	156			NA	NA	3		NA											NA				39111170		2203	4300	6503	SO:0001583	missense			AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742	57599	57599		WD repeat domain containing	30914	protein-coding gene	gene with protein product		612167			NA	10819331, 12196293, 24482476	Standard	NM_020839	NM_020839	NA	Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.607C>A	3.37:g.39111170C>A	ENSP00000307491:p.Leu203Ile	NA	B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	37	CCDS33738.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830680	0.50845	.	.	ENSG00000114742	ENST00000302313;ENST00000396258;ENST00000441361	T;T;T	0.61859	2.18;2.17;0.07	5.69	2.83	0.33086	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.40670	0.1126	L	0.28014	0.82	0.80722	D	1	B;B;B	0.18610	0.012;0.029;0.027	B;B;B	0.19666	0.015;0.023;0.026	T	0.14309	-1.0477	10	0.22109	T	0.4	-2.2119	10.1084	0.42548	0.0:0.7781:0.0:0.2219	.	121;194;203	Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;WDR48_HUMAN	I	203;121;133	ENSP00000307491:L203I;ENSP00000379557:L121I;ENSP00000416900:L133I	ENSP00000307491:L203I	L	+	1	2	WDR48	39086174	1.000000	0.71417	0.992000	0.48379	0.999000	0.98932	3.343000	0.52167	0.822000	0.34565	0.655000	0.94253	CTA	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342529.1		+	ENST00000302313.5	Missense_Mutation	SNP	3 : 39111170 - 39111170 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	612	112
AADACL4	343066	broad.mit.edu	37	1	12726682	12726682	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12726682C>T	ENST00000376221.1	+	4	1160	c.1160C>T	c.(1159-1161)gCt>gTt	p.A387V		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	387						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GATAAGAAGGCTCTCTCTTTC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	71	69			NA	NA	1		NA											NA				12726682		2203	4300	6503	SO:0001583	missense				CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518	343066	343066			32038	protein-coding gene	gene with protein product					NA		Standard	NM_001013630	XM_006710608	NA	Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.1160C>T	1.37:g.12726682C>T	ENSP00000365395:p.Ala387Val	NA		37	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	C	4.428	0.079249	0.08533	.	.	ENSG00000204518	ENST00000376221	T	0.04234	3.67	4.53	-9.05	0.00730	.	1.865950	0.02502	N	0.090580	T	0.02571	0.0078	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.36553	-0.9743	10	0.17369	T	0.5	12.6824	3.0524	0.06173	0.1666:0.3435:0.341:0.1489	.	387	Q5VUY2	ADCL4_HUMAN	V	387	ENSP00000365395:A387V	ENSP00000365395:A387V	A	+	2	0	AADACL4	12649269	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.630000	0.00032	-3.514000	0.00149	-0.882000	0.02950	GCT	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005328.1		+	ENST00000376221.1	Missense_Mutation	SNP	1 : 12726682 - 12726682 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	602	55
OR2B6	26212	broad.mit.edu	37	6	27925530	27925530	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27925530C>T	ENST00000244623.1	+	1	512	c.512C>T	c.(511-513)cCc>cTc	p.P171L		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTCTGTGACCCCTATGTGATA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	142	141			NA	NA	6		NA											NA				27925530		2203	4300	6503	SO:0001583	missense			U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657	26212	26212		GPCR / Class A : Olfactory receptors	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5	NA	9500546	Standard		NM_012367	NA	Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.512C>T	6.37:g.27925530C>T	ENSP00000244623:p.Pro171Leu	NA	O43883|Q6IF89|Q9H5B0	37	CCDS4642.1	.	.	.	.	.	.	.	.	.	.	c	6.560	0.471641	0.12461	.	.	ENSG00000124657	ENST00000244623	T	0.38077	1.16	3.55	-0.147	0.13428	GPCR, rhodopsin-like superfamily (1);	1.407500	0.05586	U	0.573708	T	0.16599	0.0399	L	0.49256	1.55	0.09310	N	1	B	0.24317	0.101	B	0.32022	0.139	T	0.46652	-0.9176	10	0.56958	D	0.05	.	6.294	0.21075	0.4238:0.429:0.1471:0.0	.	171	P58173	OR2B6_HUMAN	L	171	ENSP00000244623:P171L	ENSP00000244623:P171L	P	+	2	0	OR2B6	28033509	0.000000	0.05858	0.105000	0.21289	0.254000	0.26022	-2.067000	0.01383	0.153000	0.19213	0.467000	0.42956	CCC	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040165.1		+	ENST00000244623.1	Missense_Mutation	SNP	6 : 27925530 - 27925530 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	773	110
DNAJC5B	85479	broad.mit.edu	37	8	66989029	66989029	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:66989029C>T	ENST00000276570.5	+	4	541	c.254C>T	c.(253-255)tCg>tTg	p.S85L	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	85					protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			AAGTACGGATCGCTGGGACTC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													189	157	168			NA	NA	8		NA											NA				66989029		2203	4300	6503	SO:0001583	missense			AF368276	CCDS6183.1	8q13.1	2012-10-02			ENSG00000147570	ENSG00000147570	85479	85479		Heat shock proteins / DNAJ (HSP40)	24138	protein-coding gene	gene with protein product		613945			NA	12477932	Standard	NM_033105	NM_033105	NA	Approved	MGC26226, CSP-beta	uc003xvs.1	Q9UF47	OTTHUMG00000164470	ENST00000276570.5:c.254C>T	8.37:g.66989029C>T	ENSP00000276570:p.Ser85Leu	NA	Q969Y8	37	CCDS6183.1	.	.	.	.	.	.	.	.	.	.	C	34	5.333965	0.95758	.	.	ENSG00000147570	ENST00000276570;ENST00000522619	T;T	0.72725	-0.68;-0.68	5.73	5.73	0.89815	Heat shock protein DnaJ, N-terminal (2);	0.000000	0.64402	D	0.000002	D	0.86602	0.5972	M	0.90425	3.115	0.80722	D	1	D	0.69078	0.997	P	0.61658	0.892	D	0.88780	0.3270	10	0.87932	D	0	.	19.8961	0.96958	0.0:1.0:0.0:0.0	.	85	Q9UF47	DNJ5B_HUMAN	L	85	ENSP00000276570:S85L;ENSP00000430196:S85L	ENSP00000276570:S85L	S	+	2	0	DNAJC5B	67151583	1.000000	0.71417	0.964000	0.40570	0.818000	0.46254	7.818000	0.86416	2.699000	0.92147	0.655000	0.94253	TCG	DNAJC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378915.1		+	ENST00000276570.5	Missense_Mutation	SNP	8 : 66989029 - 66989029 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	704	23
GOLGB1	2804	broad.mit.edu	37	3	121414270	121414270	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121414270C>T	ENST00000393667.3	-	13	5210	c.5100G>A	c.(5098-5100)gaG>gaA	p.E1700E	GOLGB1_ENST00000340645.5_Silent_p.E1695E	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1695					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GCCGGTCATTCTCTTCTTCCA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													234	236	235			NA	NA	3		NA											NA				121414270		2203	4300	6503	SO:0001819	synonymous_variant			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230	2804	2804			4429	protein-coding gene	gene with protein product	macrogolgin, golgi integral membrane protein 1	602500	golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1, golgin B1, golgi integral membrane protein		NA	7691276, 15004235	Standard	NM_004487	NM_001256486	NA	Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000393667.3:c.5100G>A	3.37:g.121414270C>T		NA	D3DN92|Q14398	37	CCDS58847.1																																																																																			GOLGB1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355160.1		-	ENST00000393667.3	Silent	SNP	3 : 121414270 - 121414270 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1345	222
ANO8	57719	broad.mit.edu	37	19	17442206	17442206	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17442206C>T	ENST00000159087.4	-	6	759	c.601G>A	c.(601-603)Gca>Aca	p.A201T		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	201						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						ATCCCACGTGCTGCCAGCTCC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	58	58			NA	NA	19		NA											NA				17442206		2203	4300	6503	SO:0001583	missense			AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855	57719	57719		Ion channels / Chloride channels : Calcium activated : Anoctamins	29329	protein-coding gene	gene with protein product		610216	KIAA1623, transmembrane protein 16H	KIAA1623, TMEM16H	NA	10997877, 24692353	Standard	XM_050644	NM_020959	NA	Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.601G>A	19.37:g.17442206C>T	ENSP00000159087:p.Ala201Thr	NA	A6NIJ0	37	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057035	0.76074	.	.	ENSG00000074855	ENST00000159087	T	0.62105	0.05	5.3	5.3	0.74995	.	0.054739	0.64402	D	0.000001	T	0.57946	0.2088	L	0.51422	1.61	0.48236	D	0.999615	B	0.29341	0.242	B	0.31547	0.132	T	0.54036	-0.8353	10	0.22706	T	0.39	.	16.5003	0.84255	0.0:1.0:0.0:0.0	.	201	Q9HCE9	ANO8_HUMAN	T	201	ENSP00000159087:A201T	ENSP00000159087:A201T	A	-	1	0	ANO8	17303206	1.000000	0.71417	0.976000	0.42696	0.216000	0.24613	5.630000	0.67805	2.496000	0.84212	0.306000	0.20318	GCA	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462943.1		-	ENST00000159087.4	Missense_Mutation	SNP	19 : 17442206 - 17442206 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	445	20
EFEMP1	2202	broad.mit.edu	37	2	56144918	56144918	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56144918G>A	ENST00000394555.2	-	4	834	c.399C>T	c.(397-399)ggC>ggT	p.G133G	EFEMP1_ENST00000355426.3_Silent_p.G133G|EFEMP1_ENST00000424836.2_Silent_p.G75G|EFEMP1_ENST00000394554.1_Silent_p.G133G	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	133					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGTTATTTCGGCCAGTCTGCA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(92;934 1319 7714 28760 40110)							NA				0													60	58	59			NA	NA	2		NA											NA				56144918		2203	4300	6503	SO:0001819	synonymous_variant			U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380	2202	2202		Fibulins	3218	protein-coding gene	gene with protein product	fibulin 3	601548	fibrillin-like, EGF-containing fibulin-like extracellular matrix protein 1	DHRD, FBNL	NA	8812496, 7799918	Standard		NM_001039348	NA	Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.399C>T	2.37:g.56144918G>A		NA	A8K3I4|D6W5D2|Q541U7	37	CCDS1857.1																																																																																			EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251491.2		-	ENST00000394555.2	Silent	SNP	2 : 56144918 - 56144918 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	451	114
DPYSL5	56896	broad.mit.edu	37	2	27154526	27154526	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27154526C>T	ENST00000288699.6	+	6	846	c.688C>T	c.(688-690)Cat>Tat	p.H230Y	DPYSL5_ENST00000401478.1_Missense_Mutation_p.H230Y	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	230					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAAGCCACTCATCGTGTTAT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													221	190	200			NA	NA	2		NA											NA				27154526		2203	4300	6503	SO:0001583	missense			AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851	56896	56896			20637	protein-coding gene	gene with protein product		608383			NA	10851247, 11034345	Standard	NM_020134	NM_020134	NA	Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.688C>T	2.37:g.27154526C>T	ENSP00000288699:p.His230Tyr	NA	Q8TCL6|Q9NQC4|Q9NRY9	37	CCDS1730.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267448	0.40095	.	.	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.89746	-2.56;-2.56	6.08	6.08	0.98989	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	T	0.81216	0.4776	N	0.20483	0.58	0.54753	D	0.999989	B	0.13594	0.008	B	0.20577	0.03	T	0.74819	-0.3535	10	0.05351	T	0.99	-23.087	19.4436	0.94836	0.0:1.0:0.0:0.0	.	230	Q9BPU6	DPYL5_HUMAN	Y	230	ENSP00000288699:H230Y;ENSP00000385549:H230Y	ENSP00000288699:H230Y	H	+	1	0	DPYSL5	27008030	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.310000	0.78947	2.894000	0.99253	0.591000	0.81541	CAT	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214187.2		+	ENST00000288699.6	Missense_Mutation	SNP	2 : 27154526 - 27154526 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	88
PDCD5	9141	broad.mit.edu	37	19	33076792	33076792	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33076792A>T	ENST00000419343.3	+	4	298	c.237A>T	c.(235-237)agA>agT	p.R79S	PDCD5_ENST00000379316.3_Intron|PDCD5_ENST00000592786.1_Intron|PDCD5_ENST00000586035.1_Missense_Mutation_p.R41S|PDCD5_ENST00000590247.2_Missense_Mutation_p.R79S			O14737	PDCD5_HUMAN	programmed cell death 5	NA					apoptosis|induction of apoptosis	cytoplasm|nucleus	DNA binding			breast(1)|large_intestine(2)|lung(1)|ovary(1)	5	Esophageal squamous(110;0.137)					AGATGGCAAGATATGGACAAC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	112	110			NA	NA	19		NA											NA				33076792		2203	4300	6503	SO:0001583	missense			AF014955	CCDS12423.1	19q13.11	2012-10-15			ENSG00000105185	ENSG00000105185	9141	9141			8764	protein-coding gene	gene with protein product	TFAR19 novel apoptosis-related, TF1 cell apoptosis-related gene 19	604583			NA	9920759	Standard	NM_004708	NM_004708	NA	Approved	TFAR19, MGC9294	uc002ntm.3	O14737	OTTHUMG00000180224	ENST00000419343.3:c.237A>T	19.37:g.33076792A>T	ENSP00000476525:p.Arg79Ser	NA	Q53YC9|Q6IB70	37		.	.	.	.	.	.	.	.	.	.	A	16.89	3.246699	0.59103	.	.	ENSG00000105185	ENST00000419343;ENST00000221784	.	.	.	5.6	0.88	0.19161	.	0.000000	0.85682	D	0.000000	T	0.44074	0.1276	L	0.46157	1.445	0.80722	D	1	P;B	0.37573	0.6;0.083	B;B	0.42625	0.393;0.137	T	0.22034	-1.0228	9	0.56958	D	0.05	-9.985	4.5168	0.11939	0.6197:0.0:0.2468:0.1334	.	79;79	O14737;B4DE64	PDCD5_HUMAN;.	S	79	.	ENSP00000221784:R79S	R	+	3	2	PDCD5	37768632	1.000000	0.71417	0.989000	0.46669	0.935000	0.57460	0.724000	0.25954	-0.187000	0.10516	0.460000	0.39030	AGA	PDCD5-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000450322.3		+	ENST00000419343.3	Missense_Mutation	SNP	19 : 33076792 - 33076792 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	347	73
SOBP	55084	broad.mit.edu	37	6	107956367	107956367	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107956367G>T	ENST00000317357.5	+	6	2978	c.2319G>T	c.(2317-2319)gaG>gaT	p.E773D	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	773							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CGGTCAAGGAGAATAACTGTG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	40	38			NA	NA	6		NA											NA				107956367		1944	4143	6087	SO:0001583	missense			AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320	55084	55084			29256	protein-coding gene	gene with protein product		613667			NA		Standard	NM_018013	NM_018013	NA	Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.2319G>T	6.37:g.107956367G>T	ENSP00000318900:p.Glu773Asp	NA	B0QZ12|Q5BJD4|Q8N2B2	37	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.136500	0.77662	.	.	ENSG00000112320	ENST00000317357;ENST00000230065	T	0.52983	0.64	4.15	4.15	0.48705	.	0.994812	0.08127	N	0.993747	T	0.46560	0.1399	L	0.29908	0.895	0.47698	D	0.99949	D	0.67145	0.996	D	0.76071	0.987	T	0.41395	-0.9511	10	0.87932	D	0	-7.7535	10.1851	0.42993	0.093:0.0:0.907:0.0	.	773	A7XYQ1	SOBP_HUMAN	D	773;168	ENSP00000318900:E773D	ENSP00000230065:E168D	E	+	3	2	SOBP	108063060	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.435000	0.44811	1.836000	0.53414	0.462000	0.41574	GAG	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041693.2		+	ENST00000317357.5	Missense_Mutation	SNP	6 : 107956367 - 107956367 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	391	17
CCNE1	898	broad.mit.edu	37	19	30313366	30313366	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30313366C>T	ENST00000262643.3	+	11	1245	c.966C>T	c.(964-966)tgC>tgT	p.C322C	CCNE1_ENST00000444983.2_Silent_p.C307C|CCNE1_ENST00000357943.5_Silent_p.C279C	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	322					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			ATCAGTGGTGCGACATAGAGA	0.498		NA	A		serous ovarian									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		19	19q12	898	cyclin E1		E	0													174	145	155			NA	NA	19		NA											NA				30313366		2203	4300	6503	SO:0001819	synonymous_variant			M73812	CCDS12419.1	19q12	2014-07-03			ENSG00000105173	ENSG00000105173	898	898			1589	protein-coding gene	gene with protein product	cyclin Es, cyclin Et	123837		CCNE	NA	1833066	Standard	NM_001238	NM_001238	NA	Approved		uc002nsn.3	P24864	OTTHUMG00000177626	ENST00000262643.3:c.966C>T	19.37:g.30313366C>T		NA	A8K684|Q14091|Q8NFG1|Q92501|Q9UD21	37	CCDS12419.1																																																																																			CCNE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438138.1		+	ENST00000262643.3	Silent	SNP	19 : 30313366 - 30313366 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	660	124
PCDHGA12	26025	broad.mit.edu	37	5	140811102	140811102	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140811102C>T	ENST00000252085.3	+	1	918	c.776C>T	c.(775-777)aCg>aTg	p.T259M	PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			protocadherin gamma subfamily A, 12	NA										breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTTGGGCACGCAGCTGCTT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	56	56			NA	NA	5		NA											NA				140811102		2203	4300	6503	SO:0001583	missense			AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159	26025	26025		Cadherins / Protocadherins : Clustered	8699	other	protocadherin	fibroblast cadherin FIB3	603059	cadherin 21	CDH21	NA	10380929	Standard	NM_003735	NM_003735	NA	Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.776C>T	5.37:g.140811102C>T	ENSP00000252085:p.Thr259Met	NA		37	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	c	13.59	2.282306	0.40394	.	.	ENSG00000253159	ENST00000252085	T	0.58358	0.34	4.94	4.94	0.65067	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.81088	0.4750	H	0.94964	3.605	0.28706	N	0.903812	D;D	0.89917	1.0;1.0	D;D	0.83275	0.987;0.996	T	0.78790	-0.2066	9	0.66056	D	0.02	.	17.9729	0.89118	0.0:1.0:0.0:0.0	.	259;259	O60330-2;O60330	.;PCDGC_HUMAN	M	259	ENSP00000252085:T259M	ENSP00000252085:T259M	T	+	2	0	PCDHGA12	140791286	0.029000	0.19370	0.948000	0.38648	0.063000	0.16089	3.056000	0.49923	2.566000	0.86566	0.655000	0.94253	ACG	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251806.2		+	ENST00000252085.3	Missense_Mutation	SNP	5 : 140811102 - 140811102 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	485	98
SDPR	8436	broad.mit.edu	37	2	192711440	192711440	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:192711440G>T	ENST00000304141.4	-	1	541	c.212C>A	c.(211-213)gCt>gAt	p.A71D	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	71						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CTCCTGCACAGCGTCTAGCAT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	93	101			NA	NA	2		NA											NA				192711440		2203	4300	6503	SO:0001583	missense			AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497	8436	8436			10690	protein-coding gene	gene with protein product	phosphatidylserine binding protein	606728	serum deprivation response (phosphatidylserine-binding protein), serum deprivation response (phosphatidylserine binding protein)		NA	10191091, 8241023	Standard	NM_004657	NM_004657	NA	Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.212C>A	2.37:g.192711440G>T	ENSP00000305675:p.Ala71Asp	NA		37	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013014	0.35511	.	.	ENSG00000168497	ENST00000304141	T	0.59772	0.24	4.62	2.81	0.32909	.	0.896645	0.09759	N	0.759491	T	0.53158	0.1779	M	0.61703	1.905	0.09310	N	1	P	0.42203	0.773	B	0.36766	0.232	T	0.40646	-0.9552	10	0.49607	T	0.09	-2.8248	10.7159	0.46013	0.1554:0.0:0.8446:0.0	.	71	O95810	SDPR_HUMAN	D	71	ENSP00000305675:A71D	ENSP00000305675:A71D	A	-	2	0	SDPR	192419685	0.276000	0.24211	0.431000	0.26735	0.965000	0.64279	3.132000	0.50523	0.674000	0.31244	0.484000	0.47621	GCT	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334791.2		-	ENST00000304141.4	Missense_Mutation	SNP	2 : 192711440 - 192711440 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	87
RGL1	23179	broad.mit.edu	37	1	183874037	183874037	+	Nonsense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183874037T>G	ENST00000304685.4	+	14	1958	c.1509T>G	c.(1507-1509)taT>taG	p.Y503*	RGL1_ENST00000536277.1_Nonsense_Mutation_p.Y466*|RGL1_ENST00000539189.1_Nonsense_Mutation_p.Y439*|RGL1_ENST00000360851.3_Nonsense_Mutation_p.Y468*	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	NA					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GCAACAGCTATTGCATGACCC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	128	128			NA	NA	1		NA											NA				183874037		2203	4300	6503	SO:0001587	stop_gained			AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344	23179	23179			30281	protein-coding gene	gene with protein product		605667			NA	10760592, 10231032	Standard	NM_015149	XM_005245010	NA	Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000304685.4:c.1509T>G	1.37:g.183874037T>G	ENSP00000303192:p.Tyr503*	NA	Q5SXQ2|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	37	CCDS1359.1	.	.	.	.	.	.	.	.	.	.	T	39	7.588588	0.98374	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000543395;ENST00000360851;ENST00000539189	.	.	.	5.52	-5.05	0.02955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1163	0.59301	0.0:0.4481:0.0:0.5519	.	.	.	.	X	503;503;466;273;468;439	.	ENSP00000303192:Y503X	Y	+	3	2	RGL1	182140660	0.937000	0.31787	0.475000	0.27278	0.568000	0.35870	0.027000	0.13621	-1.370000	0.02144	-1.140000	0.01884	TAT	RGL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085481.3		+	ENST00000304685.4	Nonsense_Mutation	SNP	1 : 183874037 - 183874037 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	740	194
ZNF835	90485	broad.mit.edu	37	19	57175850	57175850	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57175850C>T	ENST00000537055.2	-	2	948	c.717G>A	c.(715-717)gaG>gaA	p.E239E		NM_001005850.2	NP_001005850.2			zinc finger protein 835	NA										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGCGCTGGTGCTCTATCAGGG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	36	37			NA	NA	19		NA											NA				57175850		2203	4300	6503	SO:0001819	synonymous_variant			AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903	90485	90485		Zinc fingers, C2H2-type	34332	protein-coding gene	gene with protein product					NA		Standard	NM_001005850	NM_001005850	NA	Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.717G>A	19.37:g.57175850C>T		NA		37	CCDS56105.1																																																																																			ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459800.1		-	ENST00000537055.2	Silent	SNP	19 : 57175850 - 57175850 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	242	46
GPRASP2	114928	broad.mit.edu	37	X	101970883	101970883	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101970883G>T	ENST00000535209.1	+	4	1917	c.1086G>T	c.(1084-1086)ttG>ttT	p.L362F	GPRASP2_ENST00000543253.1_Missense_Mutation_p.L362F|GPRASP2_ENST00000332262.5_Missense_Mutation_p.L362F					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						ATACTGCCTTGAAACTCAGGG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	80	82			NA	NA	X		NA											NA				101970883		2203	4300	6503	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.1086G>T	X.37:g.101970883G>T	ENSP00000437394:p.Leu362Phe	NA		37	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	G	0.055	-1.238499	0.01493	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.08102	3.13;3.13;3.13	4.2	3.34	0.38264	.	0.214477	0.23748	N	0.044960	T	0.08714	0.0216	L	0.51422	1.61	0.09310	N	1	P	0.40875	0.731	B	0.39840	0.311	T	0.20338	-1.0278	10	0.26408	T	0.33	.	9.3161	0.37934	0.1092:0.0:0.8908:0.0	.	362	Q96D09	GASP2_HUMAN	F	362	ENSP00000437872:L362F;ENSP00000437394:L362F;ENSP00000339057:L362F	ENSP00000339057:L362F	L	+	3	2	GPRASP2	101857539	0.282000	0.24268	0.236000	0.24074	0.014000	0.08584	0.221000	0.17680	1.135000	0.42183	0.600000	0.82982	TTG	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057626.2		+	ENST00000535209.1	Missense_Mutation	SNP	X : 101970883 - 101970883 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	377	95
DIO2	1734	broad.mit.edu	37	14	80669213	80669213	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:80669213C>T	ENST00000557010.1	-	4	1026	c.641G>A	c.(640-642)cGc>cAc	p.R214H	DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000555750.1_Missense_Mutation_p.R250H|DIO2_ENST00000438257.4_Missense_Mutation_p.R214H|DIO2_ENST00000422005.3_3'UTR	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	214					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		ATTGTCCATGCGGTCAGCCAC	0.547		NA									OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	86	86			NA	NA	14		NA											NA				80669213		2053	4188	6241	SO:0001583	missense			AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1734	1734	1.97.1.10		2884	protein-coding gene	gene with protein product	thyroxine deiodinase, type II, deiodonase-2, deiodinase-2	601413			NA	8755651, 10343107	Standard		NM_001007023	NA	Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557010.1:c.641G>A	14.37:g.80669213C>T	ENSP00000451419:p.Arg214His	1200	B9EGK0|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	37	CCDS45146.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872074	0.72180	.	.	ENSG00000211448	ENST00000438257;ENST00000557010;ENST00000555750	T;T;T	0.33216	1.42;1.42;1.42	5.77	5.77	0.91146	.	0.147221	0.45606	D	0.000345	T	0.35740	0.0942	N	0.14661	0.345	0.80722	D	1	D;D;D	0.69078	0.981;0.985;0.997	P;P;P	0.56700	0.578;0.703;0.804	T	0.16217	-1.0410	10	0.46703	T	0.11	.	19.9785	0.97317	0.0:1.0:0.0:0.0	.	250;214;250	Q92813-2;Q92813;G3V315	.;IOD2_HUMAN;.	H	214;214;250	ENSP00000405854:R214H;ENSP00000451419:R214H;ENSP00000450980:R250H	ENSP00000405854:R214H	R	-	2	0	DIO2	79738966	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.946000	0.70234	2.724000	0.93272	0.650000	0.86243	CGC	DIO2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	NA	protein_coding	OTTHUMT00000413428.2		-	ENST00000557010.1	Missense_Mutation	SNP	14 : 80669213 - 80669213 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	73
DCST2	127579	broad.mit.edu	37	1	154999185	154999185	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154999185A>G	ENST00000368424.3	-	9	1407	c.1349T>C	c.(1348-1350)gTg>gCg	p.V450A	DCST2_ENST00000295536.5_Missense_Mutation_p.V450A	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	450						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGACACCAACACAGGACCTGG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	71	71			NA	NA	1		NA											NA				154999185		2203	4300	6503	SO:0001583	missense			AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354	127579	127579			26562	protein-coding gene	gene with protein product					NA		Standard	NM_144622	NM_144622	NA	Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.1349T>C	1.37:g.154999185A>G	ENSP00000357409:p.Val450Ala	NA	Q2M2R2|Q8N810|Q96M03	37	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	A	11.04	1.521824	0.27211	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.27720	1.65;1.65	4.82	4.82	0.62117	Dendritic cell-specific transmembrane protein-like (1);	0.089835	0.42821	D	0.000654	T	0.13114	0.0318	L	0.36672	1.1	0.31072	N	0.712902	D	0.57571	0.98	P	0.49752	0.621	T	0.02156	-1.1204	10	0.06236	T	0.91	-27.98	11.9283	0.52833	1.0:0.0:0.0:0.0	.	450	Q5T1A1	DCST2_HUMAN	A	450	ENSP00000357409:V450A;ENSP00000295536:V450A	ENSP00000295536:V450A	V	-	2	0	DCST2	153265809	0.708000	0.27876	0.385000	0.26158	0.919000	0.55068	3.395000	0.52558	1.803000	0.52742	0.402000	0.26972	GTG	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090953.3		-	ENST00000368424.3	Missense_Mutation	SNP	1 : 154999185 - 154999185 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	341	47
TDG	6996	broad.mit.edu	37	12	104380828	104380828	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104380828A>G	ENST00000392872.3	+	10	1427	c.1193A>G	c.(1192-1194)cAc>cGc	p.H398R	TDG_ENST00000266775.9_Missense_Mutation_p.H394R|TDG_ENST00000542036.1_Missense_Mutation_p.H194R|TDG_ENST00000544861.1_Missense_Mutation_p.H255R	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	398					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TTTAGTAATCACTGTGGAACA	0.433		NA						Base excision repair (BER), DNA glycosylases						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	112	123			NA	NA	12		NA											NA				104380828		2203	4300	6503	SO:0001583	missense			U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	6996	6996	3.2.2.29		11700	protein-coding gene	gene with protein product	G/T mismatch-specific thymine DNA glycosylase	601423			NA	8662714, 9299239	Standard		NM_003211	NA	Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.1193A>G	12.37:g.104380828A>G	ENSP00000376611:p.His398Arg	NA	Q8IUZ6|Q8IZM3	37	CCDS9095.1	.	.	.	.	.	.	.	.	.	.	A	5.636	0.301987	0.10678	.	.	ENSG00000139372	ENST00000392872;ENST00000266775;ENST00000544861;ENST00000542036	T;T;T;T	0.21543	2.33;2.33;2.34;2.0	5.86	0.0592	0.14331	.	0.355996	0.22159	N	0.063819	T	0.13030	0.0316	N	0.22421	0.69	0.09310	N	1	B;B;B	0.11235	0.004;0.0;0.0	B;B;B	0.09377	0.004;0.0;0.0	T	0.22765	-1.0207	10	0.48119	T	0.1	-7.8928	10.9276	0.47199	0.5614:0.3717:0.0669:0.0	.	194;398;398	B4DI29;B2R848;Q13569	.;.;TDG_HUMAN	R	398;394;255;194	ENSP00000376611:H398R;ENSP00000266775:H394R;ENSP00000445899:H255R;ENSP00000439054:H194R	ENSP00000266775:H394R	H	+	2	0	TDG	102904958	0.024000	0.19004	0.001000	0.08648	0.166000	0.22503	0.710000	0.25748	0.099000	0.17552	-0.353000	0.07706	CAC	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399673.2		+	ENST00000392872.3	Missense_Mutation	SNP	12 : 104380828 - 104380828 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	562	95
SLC5A5	6528	broad.mit.edu	37	19	17988625	17988625	+	Silent	SNP	G	G	A	rs148887708		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17988625G>A	ENST00000222248.3	+	6	1139	c.792G>A	c.(790-792)gcG>gcA	p.A264A		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	264					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGAACCAGGCGCAGGTGCAGC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(65;1008 1708 7910 46650)							NA				0													151	125	134			NA	NA	19		NA											NA				17988625		2203	4300	6503	SO:0001819	synonymous_variant				CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641	6528	6528		Solute carriers	11040	protein-coding gene	gene with protein product		601843	solute carrier family 5 (sodium iodide symporter), member 5		NA	9231811	Standard		NM_000453	NA	Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.792G>A	19.37:g.17988625G>A		NA	O43702|Q2M335|Q9NYB6	37	CCDS12368.1																																																																																			SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466690.1		+	ENST00000222248.3	Silent	SNP	19 : 17988625 - 17988625 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	674	119
SLC38A10	124565	broad.mit.edu	37	17	79257209	79257209	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79257209C>A	ENST00000374759.3	-	4	740	c.357G>T	c.(355-357)caG>caT	p.Q119H	SLC38A10_ENST00000288439.5_Splice_Site_p.Q119H	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	119					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ACATCCTTACCTGAAACCCGA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	56	65			NA	NA	17		NA											NA				79257209		2201	4299	6500	SO:0001630	splice_region_variant			BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637	124565	124565		Solute carriers	28237	protein-coding gene	gene with protein product					NA		Standard	NM_138570	XM_005257019	NA	Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.357+1G>T	17.37:g.79257209C>A		NA	Q6ZRC5|Q8NA99|Q96C66	37	CCDS42397.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773057	0.90108	.	.	ENSG00000157637	ENST00000374759;ENST00000288439;ENST00000539748	T;T	0.10573	3.02;2.86	4.76	4.76	0.60689	.	5.897720	0.00166	N	0.000019	T	0.32912	0.0845	L	0.48642	1.525	0.80722	D	1	P;D	0.56968	0.942;0.978	P;D	0.63703	0.693;0.917	T	0.01613	-1.1312	9	.	.	.	-14.5591	18.1105	0.89534	0.0:1.0:0.0:0.0	.	119;119	Q9HBR0-2;Q9HBR0	.;S38AA_HUMAN	H	119;119;71	ENSP00000363891:Q119H;ENSP00000288439:Q119H	.	Q	-	3	2	SLC38A10	76871804	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.103000	0.77014	2.334000	0.79466	0.561000	0.74099	CAG	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397747.1	Missense_Mutation	-	ENST00000374759.3	Splice_Site	SNP	17 : 79257209 - 79257209 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	121	21
MYO1C	4641	broad.mit.edu	37	17	1381754	1381754	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1381754C>T	ENST00000359786.5	-	11	1569	c.1245G>A	c.(1243-1245)acG>acA	p.T415T	MYO1C_ENST00000361007.2_Silent_p.T380T|MYO1C_ENST00000575158.1_Silent_p.T380T|MYO1C_ENST00000438665.2_Silent_p.T396T|MYO1C_ENST00000545534.2_Silent_p.T391T	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	415	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCCCGAGAACCGTGGTGCTCC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	71	68			NA	NA	17		NA											NA				1381754		2203	4300	6503	SO:0001819	synonymous_variant			X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879	4641	4641		Myosins / Myosin superfamily : Class I	7597	protein-coding gene	gene with protein product		606538			NA	9119401	Standard		NM_001080779	NA	Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000359786.5:c.1245G>A	17.37:g.1381754C>T		NA	Q4LE56|Q6NVJ7|Q86Y95	37	CCDS42226.1																																																																																			MYO1C-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206685.4		-	ENST00000359786.5	Silent	SNP	17 : 1381754 - 1381754 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	594	93
FKBP15	23307	broad.mit.edu	37	9	115962165	115962165	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115962165C>T	ENST00000238256.3	-	7	694	c.577G>A	c.(577-579)Gct>Act	p.A193T		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	193					endocytosis|protein folding	axon|early endosome	actin binding	p.A218T(1)|p.A193T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						ACTTCTACAGCAGGGCCGTCT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	endometrium(2)											50	50	50			NA	NA	9		NA											NA				115962165		1985	4161	6146	SO:0001583	missense			AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321	23307	23307		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	23397	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 76, WASP and FKBP-like protein		KIAA0674	KIAA0674	NA	16756961, 20376207	Standard	NM_015258	NM_015258	NA	Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.577G>A	9.37:g.115962165C>T	ENSP00000238256:p.Ala193Thr	NA	Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	37	CCDS48007.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615398	0.87359	.	.	ENSG00000119321	ENST00000446284;ENST00000238256;ENST00000414250	D;D;D	0.85484	-1.99;-1.99;-1.99	5.95	3.72	0.42706	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (1);	.	.	.	.	D	0.83926	0.5360	L	0.37507	1.11	0.32142	N	0.585427	P;D;P	0.57571	0.57;0.98;0.783	B;P;P	0.53689	0.444;0.732;0.661	D	0.84920	0.0853	9	0.66056	D	0.02	-8.9134	9.7822	0.40656	0.1546:0.7608:0.0:0.0846	.	193;193;193	Q5T1M5-2;Q5T1M5-3;Q5T1M5	.;.;FKB15_HUMAN	T	218;193;218	ENSP00000416158:A218T;ENSP00000238256:A193T;ENSP00000415733:A218T	ENSP00000238256:A193T	A	-	1	0	FKBP15	115001986	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.040000	0.41203	1.444000	0.47605	0.655000	0.94253	GCT	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding			-	ENST00000238256.3	Missense_Mutation	SNP	9 : 115962165 - 115962165 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	119	17
FAM83G	644815	broad.mit.edu	37	17	18881907	18881907	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18881907C>T	ENST00000388995.6	-	5	1295	c.1072G>A	c.(1072-1074)Gac>Aac	p.D358N	SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.D358N|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.D358N|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000417251.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	358										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GCAATCTCGTCGACGCTCTTG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	73	71			NA	NA	17		NA											NA				18881907		1993	4158	6151	SO:0001583	missense			AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522	644815	644815			32554	protein-coding gene	gene with protein product	protein associated with SMAD1	615886			NA	24554596	Standard		NM_001039999	NA	Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.1072G>A	17.37:g.18881907C>T	ENSP00000373647:p.Asp358Asn	NA	Q3KQZ4|Q6ZW60	37	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	C	9.709	1.156648	0.21454	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.15256	2.44;2.44	5.39	5.39	0.77823	.	0.316112	0.30593	N	0.009292	T	0.15478	0.0373	M	0.67953	2.075	0.25909	N	0.983255	P	0.48640	0.913	B	0.33121	0.158	T	0.34800	-0.9814	10	0.22706	T	0.39	-20.4086	12.4985	0.55942	0.0:0.9233:0.0:0.0767	.	358	A6ND36	FA83G_HUMAN	N	358	ENSP00000373647:D358N;ENSP00000343279:D358N	ENSP00000343279:D358N	D	-	1	0	FAM83G	18822632	0.990000	0.36364	0.082000	0.20525	0.045000	0.14185	2.671000	0.46842	2.537000	0.85549	0.491000	0.48974	GAC	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253108.4		-	ENST00000388995.6	Missense_Mutation	SNP	17 : 18881907 - 18881907 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	529	102
SEC24A	10802	broad.mit.edu	37	5	133997159	133997159	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133997159A>T	ENST00000398844.2	+	2	736	c.448A>T	c.(448-450)Aac>Tac	p.N150Y	SEC24A_ENST00000322887.4_Missense_Mutation_p.N150Y	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	150	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCACAAACAAACCATTGTCC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	117	117			NA	NA	5		NA											NA				133997159		1991	4165	6156	SO:0001583	missense			AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615	10802	10802			10703	protein-coding gene	gene with protein product		607183	SEC24 (S. cerevisiae) related gene family, member A, SEC24 family, member A (S. cerevisiae)		NA	10075675, 10329445	Standard		NM_021982	NA	Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.448A>T	5.37:g.133997159A>T	ENSP00000381823:p.Asn150Tyr	NA	A8MVW3|Q8WUV2|Q96GP7	37	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	A	14.80	2.642853	0.47153	.	.	ENSG00000113615	ENST00000398844;ENST00000322887	D;D	0.97232	-4.3;-4.3	5.77	4.61	0.57282	.	0.312847	0.35615	N	0.003091	D	0.95771	0.8624	L	0.59436	1.845	0.27270	N	0.958396	D	0.56521	0.976	P	0.51016	0.656	D	0.89294	0.3621	10	0.06757	T	0.87	-5.5629	11.8303	0.52290	0.9314:0.0:0.0686:0.0	.	150	O95486	SC24A_HUMAN	Y	150	ENSP00000381823:N150Y;ENSP00000321749:N150Y	ENSP00000321749:N150Y	N	+	1	0	SEC24A	134025058	1.000000	0.71417	0.998000	0.56505	0.238000	0.25445	4.422000	0.59854	1.002000	0.39104	0.533000	0.62120	AAC	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000371563.1		+	ENST00000398844.2	Missense_Mutation	SNP	5 : 133997159 - 133997159 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	508	25
ABCB10	23456	broad.mit.edu	37	1	229661725	229661725	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229661725C>A	ENST00000344517.4	-	10	1906	c.1864G>T	c.(1864-1866)Ggg>Tgg	p.G622W		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	622	ABC transporter.			FIRNFPQG -> SPEFPPR (in Ref. 6; AAA84438).		integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				GTGTTGAACCCTTGGGGGAAA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	138	135			NA	NA	1		NA											NA				229661725		2203	4300	6503	SO:0001583	missense			U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776	23456	23456		ATP binding cassette transporters / subfamily B	41	protein-coding gene	gene with protein product	ATP-binding cassette sub-family B member 10, mitochondrial, ATP-binding cassette transporter 10, ABC transporter 10 protein, mitochondrial ATP-binding cassette 2	605454			NA	7766993	Standard	NM_012089	NM_012089	NA	Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.1864G>T	1.37:g.229661725C>A	ENSP00000355637:p.Gly622Trp	NA	Q13040|Q6P1Q8|Q9H3V0	37	CCDS1580.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484617	0.84854	.	.	ENSG00000135776	ENST00000344517	D	0.85955	-2.05	5.03	5.03	0.67393	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.95965	0.8686	H	0.98786	4.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97938	1.0324	10	0.87932	D	0	-18.8303	18.7182	0.91684	0.0:1.0:0.0:0.0	.	622	Q9NRK6	ABCBA_HUMAN	W	622	ENSP00000355637:G622W	ENSP00000355637:G622W	G	-	1	0	ABCB10	227728348	1.000000	0.71417	0.348000	0.25681	0.799000	0.45148	7.814000	0.86154	2.475000	0.83589	0.591000	0.81541	GGG	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095240.1		-	ENST00000344517.4	Missense_Mutation	SNP	1 : 229661725 - 229661725 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1223	125
PDILT	204474	broad.mit.edu	37	16	20384360	20384360	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20384360C>A	ENST00000302451.4	-	6	1014	c.766G>T	c.(766-768)Gat>Tat	p.D256Y		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	256					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						ATCACAAAATCTGTAAGGTGC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													216	205	208			NA	NA	16		NA											NA				20384360		2203	4300	6503	SO:0001583	missense				CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340	204474	204474		Protein disulfide isomerases	27338	protein-coding gene	gene with protein product	protein disulfide isomerase family A, member 7, protein disulfide isomerase-like protein of the testis				NA	15475357	Standard	NM_174924	NM_174924	NA	Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.766G>T	16.37:g.20384360C>A	ENSP00000305465:p.Asp256Tyr	NA	Q8IVQ5	37	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.728574	0.48833	.	.	ENSG00000169340	ENST00000302451	T	0.30182	1.54	4.91	3.93	0.45458	Thioredoxin-like fold (3);	0.196686	0.52532	D	0.000075	T	0.46870	0.1415	L	0.59436	1.845	0.09310	N	0.999991	D	0.76494	0.999	D	0.65323	0.934	T	0.32214	-0.9915	10	0.72032	D	0.01	.	10.8628	0.46835	0.0:0.8095:0.1905:0.0	.	256	Q8N807	PDILT_HUMAN	Y	256	ENSP00000305465:D256Y	ENSP00000305465:D256Y	D	-	1	0	PDILT	20291861	0.040000	0.19996	0.186000	0.23195	0.862000	0.49288	1.154000	0.31688	1.223000	0.43536	0.563000	0.77884	GAT	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254332.1		-	ENST00000302451.4	Missense_Mutation	SNP	16 : 20384360 - 20384360 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	809	154
ZNF189	7743	broad.mit.edu	37	9	104170805	104170805	+	Missense_Mutation	SNP	G	G	T	rs150965680		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104170805G>T	ENST00000374861.3	+	3	997	c.713G>T	c.(712-714)aGg>aTg	p.R238M	ZNF189_ENST00000339664.2_Missense_Mutation_p.R252M|ZNF189_ENST00000259395.4_Missense_Mutation_p.R210M	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	252					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AAACATCAAAGGATTCATACA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/ARG,MET/ARG	1,4405	2.1+/-5.4	0,1,2202	184	189	187		755,629	4.7	1	9	dbSNP_134	187	0,8600		0,0,4300	no	missense,missense	ZNF189	NM_003452.2,NM_197977.1	91,91	0,1,6502	TT,TG,GG	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging	252/627,210/585	104170805	1,13005	2203	4300	6503	SO:0001583	missense			AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870	7743	7743		Zinc fingers, C2H2-type, -	12980	protein-coding gene	gene with protein product		603132			NA	9653648	Standard	NM_003452	NM_003452	NA	Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000374861.3:c.713G>T	9.37:g.104170805G>T	ENSP00000363995:p.Arg238Met	NA	O75802|Q5T7D7|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	37		.	.	.	.	.	.	.	.	.	.	G	14.89	2.669524	0.47677	2.27E-4	0.0	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	T;T;T	0.02472	4.28;4.28;4.28	4.67	4.67	0.58626	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000056	T	0.13072	0.0317	M	0.63428	1.95	0.38357	D	0.944495	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.85130	0.997;0.978;0.977	T	0.00197	-1.1930	10	0.87932	D	0	.	15.8947	0.79325	0.0:0.0:1.0:0.0	.	237;238;252	B7ZLK9;Q5T7D8;O75820	.;.;ZN189_HUMAN	M	238;252;210	ENSP00000363995:R238M;ENSP00000342019:R252M;ENSP00000259395:R210M	ENSP00000259395:R210M	R	+	2	0	ZNF189	103210626	0.035000	0.19736	1.000000	0.80357	0.996000	0.88848	2.194000	0.42668	2.882000	0.98803	0.655000	0.94253	AGG	ZNF189-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000053448.1		+	ENST00000374861.3	Missense_Mutation	SNP	9 : 104170805 - 104170805 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1307	245
RAD21	5885	broad.mit.edu	37	8	117862951	117862951	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:117862951G>A	ENST00000297338.2	-	12	1813	c.1526C>T	c.(1525-1527)cCt>cTt	p.P509L	RAD21_ENST00000518055.1_Missense_Mutation_p.P54L|RAD21_ENST00000523986.1_Missense_Mutation_p.P13L	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	509	Pro-rich.				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					GATATTTGGAGGTTCTTCTGG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	131	132			NA	NA	8		NA											NA				117862951		2203	4300	6503	SO:0001583	missense			BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754	5885	5885			9811	protein-coding gene	gene with protein product	sister chromatid cohesion 1	606462	RAD21 (S. pombe) homolog		NA	8812457	Standard	NM_006265	NM_006265	NA	Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.1526C>T	8.37:g.117862951G>A	ENSP00000297338:p.Pro509Leu	NA	A8K0E0|Q15001|Q99568	37	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665099	0.67700	.	.	ENSG00000164754	ENST00000297338;ENST00000523986;ENST00000518055	T;T;T	0.77358	0.66;-1.09;-0.09	5.36	5.36	0.76844	.	0.205404	0.50627	D	0.000105	T	0.70482	0.3229	L	0.36672	1.1	0.80722	D	1	B	0.27823	0.19	B	0.23018	0.043	T	0.66114	-0.6004	10	0.30078	T	0.28	-26.6076	19.1023	0.93279	0.0:0.0:1.0:0.0	.	509	O60216	RAD21_HUMAN	L	509;13;54	ENSP00000297338:P509L;ENSP00000428513:P13L;ENSP00000428003:P54L	ENSP00000297338:P509L	P	-	2	0	RAD21	117932132	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.869000	0.87170	2.481000	0.83766	0.467000	0.42956	CCT	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381184.1		-	ENST00000297338.2	Missense_Mutation	SNP	8 : 117862951 - 117862951 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	638	99
CACNA1E	777	broad.mit.edu	37	1	181732641	181732641	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181732641C>A	ENST00000526775.1	+	33	4897	c.4732C>A	c.(4732-4734)Ctg>Atg	p.L1578M	CACNA1E_ENST00000360108.3_Missense_Mutation_p.L1578M|CACNA1E_ENST00000367573.2_Missense_Mutation_p.L1597M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.L1548M|CACNA1E_ENST00000367567.4_Missense_Mutation_p.L1204M|CACNA1E_ENST00000367570.1_Missense_Mutation_p.L1597M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.L1529M	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1597					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACGCATTTTGCTGTGGACCTT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	60	60			NA	NA	1		NA											NA				181732641		1892	4124	6016	SO:0001583	missense			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216	777	777		Calcium channel subunits, Voltage-gated ion channels / Calcium channels, EF-hand domain containing	1392	protein-coding gene	gene with protein product		601013		CACNL1A6	NA	8388125, 16382099	Standard	NM_000721	NM_001205293	NA	Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000526775.1:c.4732C>A	1.37:g.181732641C>A	ENSP00000434814:p.Leu1578Met	NA	B1AM12|B1AM13|B1AM14|Q14580|Q14581	37	CCDS55665.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316400	0.81469	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98978	-5.29;-5.29;-5.29;-5.29;-5.29;-5.29;-5.29	5.28	4.36	0.52297	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99293	0.9753	M	0.88241	2.94	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.997	D	0.98630	1.0671	10	0.66056	D	0.02	.	13.9604	0.64175	0.0:0.924:0.0:0.076	.	1578;1597;1597	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	M	1597;1578;1548;1529;1204;1578;1597	ENSP00000356542:L1597M;ENSP00000434814:L1578M;ENSP00000350183:L1548M;ENSP00000351101:L1529M;ENSP00000356539:L1204M;ENSP00000353222:L1578M;ENSP00000356545:L1597M	ENSP00000350183:L1548M	L	+	1	2	CACNA1E	179999264	1.000000	0.71417	0.597000	0.28824	0.956000	0.61745	3.673000	0.54591	2.471000	0.83476	0.467000	0.42956	CTG	CACNA1E-002	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090792.2		+	ENST00000526775.1	Missense_Mutation	SNP	1 : 181732641 - 181732641 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	203	35
KALRN	8997	broad.mit.edu	37	3	124380766	124380766	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124380766G>A	ENST00000291478.5	+	12	1405	c.1242G>A	c.(1240-1242)caG>caA	p.Q414Q	KALRN_ENST00000360013.3_Silent_p.Q2111Q|KALRN_ENST00000459915.1_Silent_p.Q203Q|KALRN_ENST00000393496.1_Silent_p.Q452Q|KALRN_ENST00000428018.2_Silent_p.Q382Q	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	NA					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GACGTCTGCAGGGCTTTGAGG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													177	153	161			NA	NA	3		NA											NA				124380766		2203	4300	6503	SO:0001819	synonymous_variant			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145	8997	8997		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	4814	protein-coding gene	gene with protein product	serine/threonine kinase with Dbl and pleckstrin homology domains	604605	huntingtin-associated protein interacting protein (duo)	HAPIP	NA	9285789, 10023074	Standard	NM_003947	NM_001024660	NA	Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.1242G>A	3.37:g.124380766G>A		NA	A8MSI4|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	37	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	G	5.100	0.204068	0.09704	.	.	ENSG00000160145	ENST00000354186	.	.	.	5.29	2.42	0.29668	.	.	.	.	.	T	0.61502	0.2352	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55042	-0.8202	4	.	.	.	.	11.6186	0.51104	0.3065:0.0:0.6935:0.0	.	.	.	.	K	2080	.	.	R	+	2	0	KALRN	125863456	1.000000	0.71417	0.999000	0.59377	0.683000	0.39861	2.303000	0.43646	0.072000	0.16694	-1.945000	0.00491	AGG	KALRN-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000246891.5		+	ENST00000291478.5	Silent	SNP	3 : 124380766 - 124380766 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	657	107
TRIM54	57159	broad.mit.edu	37	2	27528685	27528685	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27528685G>T	ENST00000296098.4	+	6	1239	c.969G>T	c.(967-969)caG>caT	p.Q323H	TRIM54_ENST00000380075.2_Splice_Site_p.Q281H	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	281	COS.				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTATCTCCAGGTGGGCTCTA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	22	22			NA	NA	2		NA											NA				27528685		2202	4300	6502	SO:0001630	splice_region_variant			AJ291714	CCDS1745.2, CCDS1746.2	2p23.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000138100	ENSG00000138100	57159	57159		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	16008	protein-coding gene	gene with protein product		606474	ring finger protein 30, tripartite motif-containing 54	RNF30	NA	11243782	Standard	NM_187841	NM_032546	NA	Approved	MURF, MURF-3	uc002rjn.3	Q9BYV2	OTTHUMG00000097078	ENST00000296098.4:c.969+1G>T	2.37:g.27528685G>T		NA	A5D8T7|Q53SY4|Q9BYV3	37	CCDS1745.2	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694982	0.68386	.	.	ENSG00000138100	ENST00000380075;ENST00000380073;ENST00000296098	T;T	0.54675	0.94;0.56	4.85	4.85	0.62838	COS domain (1);	0.067207	0.64402	D	0.000009	T	0.45478	0.1344	L	0.34521	1.04	0.80722	D	1	B;B	0.23735	0.017;0.09	B;B	0.26202	0.047;0.067	T	0.47787	-0.9090	10	0.87932	D	0	-20.6728	15.4542	0.75299	0.0:0.0:1.0:0.0	.	281;323	Q9BYV2;Q9BYV2-2	TRI54_HUMAN;.	H	281;102;323	ENSP00000369415:Q281H;ENSP00000296098:Q323H	ENSP00000296098:Q323H	Q	+	3	2	TRIM54	27382189	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.555000	0.98123	2.235000	0.73313	0.561000	0.74099	CAG	TRIM54-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214198.2	Missense_Mutation	+	ENST00000296098.4	Splice_Site	SNP	2 : 27528685 - 27528685 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	70	10
NKAPL	222698	broad.mit.edu	37	6	28227565	28227565	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28227565C>T	ENST00000343684.3	+	1	468	c.416C>T	c.(415-417)cCg>cTg	p.P139L		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	139										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GTGTGGGGGCCGTCTCCAAAG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	112	109			NA	NA	6		NA											NA				28227565		2203	4300	6503	SO:0001583	missense			BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134	222698	222698			21584	protein-coding gene	gene with protein product			chromosome 6 open reading frame 194	C6orf194	NA		Standard		NM_001007531	NA	Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.416C>T	6.37:g.28227565C>T	ENSP00000345716:p.Pro139Leu	NA	Q3MIV1|Q9H4Q7	37	CCDS34353.1	.	.	.	.	.	.	.	.	.	.	C	1.216	-0.628296	0.03610	.	.	ENSG00000189134	ENST00000343684	T	0.12147	2.71	5.1	3.86	0.44501	.	0.213702	0.41396	N	0.000888	T	0.00875	0.0029	N	0.00885	-1.115	0.30982	N	0.722431	B	0.06786	0.001	B	0.01281	0.0	T	0.47749	-0.9093	10	0.06099	T	0.92	-0.8743	7.6288	0.28228	0.0:0.0959:0.0:0.9041	.	139	Q5M9Q1	NKAPL_HUMAN	L	139	ENSP00000345716:P139L	ENSP00000345716:P139L	P	+	2	0	NKAPL	28335544	0.981000	0.34729	0.762000	0.31397	0.696000	0.40369	2.108000	0.41854	1.069000	0.40788	-0.290000	0.09829	CCG	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040185.1		+	ENST00000343684.3	Missense_Mutation	SNP	6 : 28227565 - 28227565 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	918	135
PRR5	55615	broad.mit.edu	37	22	45132743	45132743	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45132743C>T	ENST00000403581.1	+	10	1461	c.852C>T	c.(850-852)aaC>aaT	p.N284N	PRR5_ENST00000336985.6_Silent_p.N261N|PRR5_ENST00000006251.7_Silent_p.N252N|PRR5-ARHGAP8_ENST00000361473.5_Intron|PRR5_ENST00000477331.1_3'UTR|ARHGAP8_ENST00000517296.3_Intron|PRR5-ARHGAP8_ENST00000352766.7_Intron|ARHGAP8_ENST00000389773.5_Intron	NM_001198721.1	NP_001185650.1			proline rich 5 (renal)	NA										central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		CTCTGCTGAACCCCGTGCAGG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	39	37			NA	NA	22		NA											NA				45132743		2199	4291	6490	SO:0001819	synonymous_variant			AF177331	CCDS14058.1, CCDS14059.1, CCDS56232.1, CCDS74875.1	22q13.3	2011-02-10			ENSG00000186654	ENSG00000186654	55615	55615			31682	protein-coding gene	gene with protein product	protein observed with Rictor-1	609406			NA	15718101, 17599906	Standard	NM_001017528	NM_001017528	NA	Approved	PP610, FLJ20185k, Protor-1		P85299	OTTHUMG00000150460	ENST00000403581.1:c.852C>T	22.37:g.45132743C>T		NA		37	CCDS56232.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.558343	0.27827	.	.	ENSG00000186654	ENST00000455389	.	.	.	5.41	3.19	0.36642	.	.	.	.	.	T	0.52629	0.1746	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48399	-0.9039	4	.	.	.	.	4.884	0.13694	0.1335:0.5366:0.2472:0.0827	.	.	.	.	I	221	.	.	T	+	2	0	PRR5	43511407	0.943000	0.32029	1.000000	0.80357	0.896000	0.52359	0.073000	0.14640	1.267000	0.44247	0.313000	0.20887	ACC	PRR5-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318199.1		+	ENST00000403581.1	Silent	SNP	22 : 45132743 - 45132743 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	582	123
MSRB3	253827	broad.mit.edu	37	12	65702408	65702408	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:65702408G>A	ENST00000538725.1	+	0	262				MSRB3_ENST00000535664.1_Missense_Mutation_p.A17T|MSRB3_ENST00000540804.1_Intron|MSRB3_ENST00000308259.5_Missense_Mutation_p.A17T|MSRB3_ENST00000355192.3_Intron			Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	NA					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		CCAGCCAGTAGCCCTTCGAGC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	115	120			NA	NA	12		NA											NA				65702408		2203	4300	6503	SO:0001624	3_prime_UTR_variant			BX640871	CCDS8973.1, CCDS31853.1	12q14.3	2011-11-29			ENSG00000174099	ENSG00000174099	253827	253827			27375	protein-coding gene	gene with protein product		613719	deafness, autosomal recessive 74	DFNB74	NA	21185009	Standard	NM_198080	NM_198080	NA	Approved	FLJ36866, DKFZp686C1178	uc021qzy.1	Q8IXL7	OTTHUMG00000168866	ENST00000538725.1:c.*259G>A	12.37:g.65702408G>A		NA	B4DR19|B7ZAQ0|Q6UXS2	37		.	.	.	.	.	.	.	.	.	.	G	13.42	2.231460	0.39399	.	.	ENSG00000174099	ENST00000308259;ENST00000535664;ENST00000538045;ENST00000535239	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.07	6.01	5.07	0.68467	.	.	.	.	.	T	0.46073	0.1374	N	0.25647	0.755	0.33937	D	0.642723	B	0.14012	0.009	B	0.12837	0.008	T	0.49661	-0.8916	8	.	.	.	.	9.4925	0.38969	0.0704:0.0:0.7859:0.1437	.	17	Q8IXL7-2	.	T	17	ENSP00000312274:A17T;ENSP00000441650:A17T;ENSP00000442620:A17T;ENSP00000445843:A17T	.	A	+	1	0	MSRB3	63988675	1.000000	0.71417	0.980000	0.43619	0.720000	0.41350	3.998000	0.57024	2.861000	0.98227	0.650000	0.86243	GCC	MSRB3-006	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000401424.1		+	ENST00000538725.1	3'UTR	SNP	12 : 65702408 - 65702408 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	413	85
CR2	1380	broad.mit.edu	37	1	207648341	207648341	+	Silent	SNP	C	C	T	rs139322251		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207648341C>T	ENST00000367057.3	+	14	2685	c.2496C>T	c.(2494-2496)agC>agT	p.S832S	CR2_ENST00000367059.3_Silent_p.S773S|CR2_ENST00000367058.3_Silent_p.S773S|CR2_ENST00000458541.2_Silent_p.S746S	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	901	Sushi 13.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.S832S(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GATCTTGGAGCGGGCCTTCCC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	kidney(1)						C	,	1,4405	2.1+/-5.4	0,1,2202	133	135	134		2496,2319	1.3	0.9	1	dbSNP_134	134	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	CR2	NM_001006658.2,NM_001877.4	,	0,4,6499	TT,TC,CC	NA	0.0349,0.0227,0.0308	,	832/1093,773/1034	207648341	4,13002	2203	4300	6503	SO:0001819	synonymous_variant			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322	1380	1380		CD molecules, Complement system	2336	protein-coding gene	gene with protein product		120650			NA		Standard	NM_001877	NM_001006658	NA	Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367057.3:c.2496C>T	1.37:g.207648341C>T		NA	Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	37	CCDS31007.1																																																																																			CR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088325.1		+	ENST00000367057.3	Silent	SNP	1 : 207648341 - 207648341 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	657	170
L3MBTL2	83746	broad.mit.edu	37	22	41621043	41621043	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41621043C>A	ENST00000216237.5	+	11	1482	c.1324C>A	c.(1324-1326)Ctg>Atg	p.L442M		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	442					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCCCCTGAATCTGGGCAACAT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	152	155			NA	NA	22		NA											NA				41621043		2203	4300	6503	SO:0001583	missense			AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395	83746	83746			18594	protein-coding gene	gene with protein product		611865			NA	11682070	Standard	NM_031488	NM_031488	NA	Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.1324C>A	22.37:g.41621043C>A	ENSP00000216237:p.Leu442Met	NA	Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	37	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222340	0.79464	.	.	ENSG00000100395	ENST00000216237	T	0.32023	1.47	5.52	1.09	0.20402	.	0.000000	0.85682	D	0.000000	T	0.55401	0.1918	M	0.89095	3.005	0.54753	D	0.999989	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.999	T	0.55823	-0.8080	10	0.34782	T	0.22	.	10.1344	0.42697	0.0:0.7279:0.0:0.2721	.	442;442	Q969R5-3;Q969R5	.;LMBL2_HUMAN	M	442	ENSP00000216237:L442M	ENSP00000216237:L442M	L	+	1	2	L3MBTL2	39950989	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	1.353000	0.34045	0.312000	0.23038	0.561000	0.74099	CTG	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320613.1		+	ENST00000216237.5	Missense_Mutation	SNP	22 : 41621043 - 41621043 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	514	90
UPF2	26019	broad.mit.edu	37	10	11997479	11997479	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11997479G>A	ENST00000356352.2	-	13	3075	c.2602C>T	c.(2602-2604)Cgc>Tgc	p.R868C	UPF2_ENST00000357604.5_Missense_Mutation_p.R868C|UPF2_ENST00000397053.2_Missense_Mutation_p.R868C			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	868	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF3A and UPF3B.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CTGCTGATGCGCCTCTGATTA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	58	58			NA	NA	10		NA											NA				11997479		2203	4300	6503	SO:0001583	missense			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461	26019	26019			17854	protein-coding gene	gene with protein product	smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)	605529			NA	11073994, 11113196	Standard		NM_080599	NA	Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.2602C>T	10.37:g.11997479G>A	ENSP00000348708:p.Arg868Cys	NA	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	37	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960300	0.74016	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	T;T;T	0.23950	1.88;1.88;1.88	5.17	5.17	0.71159	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.59059	0.2166	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68546	-0.5380	10	0.87932	D	0	.	12.3971	0.55391	0.0:0.0:0.7054:0.2946	.	868	Q9HAU5	RENT2_HUMAN	C	868	ENSP00000348708:R868C;ENSP00000350221:R868C;ENSP00000380244:R868C	ENSP00000348708:R868C	R	-	1	0	UPF2	12037485	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.203000	0.72137	2.413000	0.81919	0.591000	0.81541	CGC	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046783.1		-	ENST00000356352.2	Missense_Mutation	SNP	10 : 11997479 - 11997479 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	50
TAGAP	117289	broad.mit.edu	37	6	159456924	159456924	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159456924G>A	ENST00000367066.3	-	10	2462	c.2131C>T	c.(2131-2133)Cga>Tga	p.R711*	RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|TAGAP_ENST00000326965.6_Nonsense_Mutation_p.R533*|RP1-111C20.4_ENST00000606466.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	711					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	p.R711*(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTACATCGTCGCACGAGACAG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Nonsense(1)	large_intestine(1)											68	62	64			NA	NA	6		NA											NA				159456924		2203	4300	6503	SO:0001587	stop_gained			AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691	117289	117289		Rho GTPase activating proteins	15669	protein-coding gene	gene with protein product		609667	T-cell activation GTPase activating protein		NA	16375659, 18311140, 18356936	Standard	NM_054114	NM_152133	NA	Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.2131C>T	6.37:g.159456924G>A	ENSP00000356033:p.Arg711*	NA	Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	37	CCDS5261.1	.	.	.	.	.	.	.	.	.	.	G	41	8.771134	0.98948	.	.	ENSG00000164691	ENST00000367066;ENST00000326965	.	.	.	5.82	-5.39	0.02664	.	0.573271	0.16820	N	0.198182	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.1856	6.9636	0.24611	0.0564:0.1573:0.2893:0.497	.	.	.	.	X	711;533	.	ENSP00000322650:R533X	R	-	1	2	TAGAP	159376912	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.397000	0.20883	-0.505000	0.06568	-0.309000	0.09137	CGA	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042890.1		-	ENST00000367066.3	Nonsense_Mutation	SNP	6 : 159456924 - 159456924 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	342	69
ST3GAL4	6484	broad.mit.edu	37	11	126283899	126283899	+	Missense_Mutation	SNP	G	G	A	rs143689441	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126283899G>A	ENST00000526727.1	+	10	1333	c.959G>A	c.(958-960)cGg>cAg	p.R320Q	ST3GAL4_ENST00000449406.2_Missense_Mutation_p.R309Q|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.R320Q|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.R326Q|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.R315Q|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.R316Q|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.R320Q|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.R319Q|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.R320Q|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.R316Q			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	320					post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		GCCATTAAGCGGATGCTGGAG	0.572		NA											G	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	9e-04	1	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0								G	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	122	112	115		947	5.6	1	11	dbSNP_134	115	18,8576	13.3+/-46.6	0,18,4279	yes	missense	ST3GAL4	NM_006278.1	43	0,19,6479	AA,AG,GG	NA	0.2094,0.0227,0.1462	probably-damaging	316/330	126283899	19,12977	2201	4297	6498	SO:0001583	missense			X74570	CCDS8474.1, CCDS58193.1, CCDS58194.1	11q23-q24	2013-03-01	2003-01-14	2005-02-07	ENSG00000110080	ENSG00000110080	6484	6484	2.4.99.4	Sialyltransferases	10864	protein-coding gene	gene with protein product	ST3Gal IV	104240	sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase)	CGS23, SIAT4, NANTA3, SIAT4C	NA	8557707, 8288606	Standard	NM_006278	NM_006278	NA	Approved	STZ, SAT3, FLJ11867	uc001qds.3	Q11206	OTTHUMG00000165830	ENST00000526727.1:c.959G>A	11.37:g.126283899G>A	ENSP00000436047:p.Arg320Gln	NA	A8K6B2|O60497|Q96QQ9	37	CCDS58193.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.49	3.837154	0.71373	2.27E-4	0.002094	ENSG00000110080	ENST00000227495;ENST00000444328;ENST00000356132;ENST00000530591;ENST00000534083;ENST00000392669;ENST00000526727;ENST00000449406;ENST00000532243;ENST00000534457	T;T;T;T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46	5.63	5.63	0.86233	.	.	.	.	.	T	0.39064	0.1064	L	0.43152	1.355	0.38415	D	0.946021	D;D	0.67145	0.996;0.996	P;P	0.56563	0.801;0.801	T	0.12451	-1.0547	9	0.32370	T	0.25	.	12.2135	0.54394	0.0781:0.0:0.9219:0.0	.	316;320	Q6IBE6;Q11206	.;SIA4C_HUMAN	Q	316;320;326;316;320;320;320;309;319;315	ENSP00000227495:R316Q;ENSP00000394354:R320Q;ENSP00000348451:R326Q;ENSP00000433989:R316Q;ENSP00000433318:R320Q;ENSP00000376437:R320Q;ENSP00000436047:R320Q;ENSP00000399444:R309Q;ENSP00000434349:R319Q;ENSP00000434668:R315Q	ENSP00000227495:R316Q	R	+	2	0	ST3GAL4	125789109	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.864000	0.48404	2.656000	0.90262	0.561000	0.74099	CGG	ST3GAL4-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386470.1		+	ENST00000526727.1	Missense_Mutation	SNP	11 : 126283899 - 126283899 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	45
ASTN1	460	broad.mit.edu	37	1	177030297	177030297	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177030297T>G	ENST00000367657.3	-	2	578	c.388A>C	c.(388-390)Agc>Cgc	p.S130R	ASTN1_ENST00000367654.3_Missense_Mutation_p.S130R|ASTN1_ENST00000424564.2_Missense_Mutation_p.S130R|ASTN1_ENST00000361833.2_Missense_Mutation_p.S130R|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	130					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCAGGAAGGCTTGGGGCACCA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													254	238	244			NA	NA	1		NA											NA				177030297		2203	4300	6503	SO:0001583	missense			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092	460	460			773	protein-coding gene	gene with protein product		600904	astrotactin	ASTN	NA	9070947	Standard	NM_004319	NM_001286164	NA	Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367657.3:c.388A>C	1.37:g.177030297T>G	ENSP00000356629:p.Ser130Arg	NA	O60799|Q5W0V7|Q5W0V8	37		.	.	.	.	.	.	.	.	.	.	T	16.00	2.998800	0.54147	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.14640	2.49;2.9;2.9;2.49	6.06	6.06	0.98353	.	0.133095	0.64402	D	0.000003	T	0.14356	0.0347	L	0.36672	1.1	0.41103	D	0.985688	B;B;B	0.13145	0.007;0.007;0.007	B;B;B	0.15870	0.014;0.014;0.014	T	0.02471	-1.1154	10	0.49607	T	0.09	-23.7253	16.2708	0.82618	0.0:0.0:0.0:1.0	.	130;130;130	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	R	130	ENSP00000356629:S130R;ENSP00000354536:S130R;ENSP00000356626:S130R;ENSP00000395041:S130R	ENSP00000354536:S130R	S	-	1	0	ASTN1	175296920	1.000000	0.71417	0.578000	0.28575	0.995000	0.86356	6.017000	0.70805	2.324000	0.78689	0.533000	0.62120	AGC	ASTN1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000084823.1		-	ENST00000367657.3	Missense_Mutation	SNP	1 : 177030297 - 177030297 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1187	283
MYO9A	4649	broad.mit.edu	37	15	72286859	72286859	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72286859C>T	ENST00000564571.1	-	10	1697	c.1538G>A	c.(1537-1539)cGa>cAa	p.R513Q	MYO9A_ENST00000566885.1_Missense_Mutation_p.R108Q|MYO9A_ENST00000356056.5_Missense_Mutation_p.R513Q|MYO9A_ENST00000424560.1_Missense_Mutation_p.R513Q|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000444904.1_Missense_Mutation_p.R494Q|MYO9A_ENST00000563542.1_5'UTR			B2RTY4	MYO9A_HUMAN	myosin IXA	513	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATGATTAATTCGAAAAACTAT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	112	112			NA	NA	15		NA											NA				72286859		2199	4297	6496	SO:0001583	missense			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933	4649	4649		Myosins / Myosin superfamily : Class IX	7608	protein-coding gene	gene with protein product		604875			NA	10409426	Standard	NM_006901	NM_006901	NA	Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000564571.1:c.1538G>A	15.37:g.72286859C>T	ENSP00000456192:p.Arg513Gln	NA	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	37		.	.	.	.	.	.	.	.	.	.	C	29.1	4.974210	0.92919	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.88431	-2.38;-2.38;-2.38	5.14	5.14	0.70334	Myosin head, motor domain (2);	.	.	.	.	D	0.90721	0.7088	L	0.33792	1.035	0.80722	D	1	D;P;D;P	0.71674	0.998;0.867;0.961;0.886	D;B;P;P	0.70716	0.97;0.23;0.688;0.564	D	0.88017	0.2766	9	0.19147	T	0.46	.	18.59	0.91206	0.0:1.0:0.0:0.0	.	494;513;494;513	B2RTY4-2;B2RTY4-3;B7WP69;B2RTY4	.;.;.;MYO9A_HUMAN	Q	513;513;494;494;513	ENSP00000348349:R513Q;ENSP00000399162:R513Q;ENSP00000398250:R494Q	ENSP00000261864:R494Q	R	-	2	0	MYO9A	70073913	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.275000	0.78548	2.385000	0.81259	0.557000	0.71058	CGA	MYO9A-015	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000420905.1		-	ENST00000564571.1	Missense_Mutation	SNP	15 : 72286859 - 72286859 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	631	122
MDFIC	29969	broad.mit.edu	37	7	114655944	114655944	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:114655944C>A	ENST00000393486.1	+	5	1286	c.696C>A	c.(694-696)tgC>tgA	p.C232*	MDFIC_ENST00000257724.3_Nonsense_Mutation_p.C341*	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1	Q9P1T7	MDFIC_HUMAN	MyoD family inhibitor domain containing	232	Cys-rich.				activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	cyclin binding|Tat protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						CATCAGACTGCTTGGAAATCT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													286	253	264			NA	NA	7		NA											NA				114655944		2203	4300	6503	SO:0001587	stop_gained			AF054589	CCDS34737.1, CCDS55155.1	7q31.1-q31.2	2006-01-11			ENSG00000135272	ENSG00000135272	29969	29969			28870	protein-coding gene	gene with protein product		614511			NA	10671520	Standard	NM_199072	NM_199072	NA	Approved	HIC	uc003vhf.3	Q9P1T7	OTTHUMG00000023647	ENST00000393486.1:c.696C>A	7.37:g.114655944C>A	ENSP00000377126:p.Cys232*	NA	Q9P1T6	37	CCDS55155.1	.	.	.	.	.	.	.	.	.	.	C	35	5.466091	0.96257	.	.	ENSG00000135272	ENST00000257724;ENST00000393486	.	.	.	5.64	2.07	0.26955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.2707	8.9423	0.35738	0.0:0.3193:0.0:0.6807	.	.	.	.	X	341;232	.	ENSP00000257724:C341X	C	+	3	2	MDFIC	114443180	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	1.336000	0.33850	0.117000	0.18138	-0.471000	0.05019	TGC	MDFIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059968.4		+	ENST00000393486.1	Nonsense_Mutation	SNP	7 : 114655944 - 114655944 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	764	167
EML4	27436	broad.mit.edu	37	2	42513424	42513424	+	Missense_Mutation	SNP	G	G	A	rs146370925	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:42513424G>A	ENST00000318522.5	+	10	1289	c.1027G>A	c.(1027-1029)Gtc>Atc	p.V343I	EML4_ENST00000401738.3_Missense_Mutation_p.V354I|EML4_ENST00000402711.2_Missense_Mutation_p.V285I	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	343					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						ACAACCCCACGTCAGAGTGTG	0.438		NA	T	ALK	NSCLC								G	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	2e-04	SNP			Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	0								G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	159	135	143		853,1027	4.9	1	2	dbSNP_134	143	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	EML4	NM_001145076.1,NM_019063.3	29,29	0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154	probably-damaging,probably-damaging	285/924,343/982	42513424	2,13004	2203	4300	6503	SO:0001583	missense			AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924	27436	27436		WD repeat domain containing	1316	protein-coding gene	gene with protein product		607442		C2orf2	NA		Standard	NM_019063	NM_019063	NA	Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.1027G>A	2.37:g.42513424G>A	ENSP00000320663:p.Val343Ile	NA	B2RBK3|B2RTW7|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	37	CCDS1807.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	27.7	4.851680	0.91355	0.0	2.33E-4	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	T;T;T	0.57752	0.38;0.38;0.38	4.94	4.94	0.65067	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.61211	0.2329	L	0.32530	0.975	0.80722	D	1	D;P;D	0.76494	0.975;0.764;0.999	B;B;D	0.77557	0.353;0.391;0.99	T	0.53648	-0.8409	10	0.14252	T	0.57	-11.591	18.5327	0.90999	0.0:0.0:1.0:0.0	.	285;354;343	B5MCW9;B5MBZ0;Q9HC35	.;.;EMAL4_HUMAN	I	343;285;354	ENSP00000320663:V343I;ENSP00000385059:V285I;ENSP00000384939:V354I	ENSP00000320663:V343I	V	+	1	0	EML4	42366928	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.781000	0.99029	2.438000	0.82558	0.650000	0.86243	GTC	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250463.3		+	ENST00000318522.5	Missense_Mutation	SNP	2 : 42513424 - 42513424 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	390	102
SEMA5A	9037	broad.mit.edu	37	5	9197373	9197373	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:9197373G>A	ENST00000382496.5	-	10	1640	c.975C>T	c.(973-975)agC>agT	p.S325S		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	325	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCGCGATGGCGCTCAGGTTGA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	80	80			NA	NA	5		NA											NA				9197373		2203	4300	6503	SO:0001819	synonymous_variant			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902	9037	9037		Semaphorins	10736	protein-coding gene	gene with protein product		609297		SEMAF	NA	8817451, 9464278	Standard		NM_003966	NA	Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.975C>T	5.37:g.9197373G>A		NA	D3DTC6|O60408|Q1RLL9	37	CCDS3875.1																																																																																			SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206989.2		-	ENST00000382496.5	Silent	SNP	5 : 9197373 - 9197373 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	554	139
SSTR5	6755	broad.mit.edu	37	16	1129417	1129417	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1129417C>T	ENST00000293897.4	+	1	637	c.549C>T	c.(547-549)ggC>ggT	p.G183G	SSTR5_ENST00000397547.2_Silent_p.G183G|SSTR5_ENST00000562758.1_Silent_p.G183G	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	183					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	TGCAGGAGGGCGGTACCTGCA	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	4,4340		0,4,2168	19	23	22		549,549	1.3	1	16		22	0,8558		0,0,4279	no	coding-synonymous,coding-synonymous	SSTR5	NM_001053.3,NM_001172560.1	,	0,4,6447	TT,TC,CC	NA	0.0,0.0921,0.031	,	183/365,183/365	1129417	4,12898	2172	4279	6451	SO:0001819	synonymous_variant			D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009	NA	6755		GPCR / Class A : Somatostatin receptors	11334	protein-coding gene	gene with protein product		182455			NA	7607700	Standard		NM_001053	NA	Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.549C>T	16.37:g.1129417C>T		NA	P34988|Q9UJI5	37	CCDS10429.1																																																																																			SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000420836.1		+	ENST00000293897.4	Silent	SNP	16 : 1129417 - 1129417 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	151	31
MYH15	22989	broad.mit.edu	37	3	108133184	108133184	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108133184G>T	ENST00000273353.3	-	31	4156	c.4100C>A	c.(4099-4101)gCt>gAt	p.A1367D		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1367						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GTGCAGCTCAGCCTTGACCTC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	151	153			NA	NA	3		NA											NA				108133184		2071	4208	6279	SO:0001583	missense			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821	22989	22989		Myosins / Myosin superfamily : Class II	31073	protein-coding gene	gene with protein product		609929	myosin, heavy polypeptide 15		NA	15014174, 15042088	Standard	XM_036988	NM_014981	NA	Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.4100C>A	3.37:g.108133184G>T	ENSP00000273353:p.Ala1367Asp	NA		37	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072263	0.55646	.	.	ENSG00000144821	ENST00000273353	T	0.78707	-1.2	5.26	1.22	0.21188	Myosin tail (1);	.	.	.	.	T	0.81235	0.4780	M	0.76838	2.35	0.39373	D	0.966114	P	0.37276	0.589	P	0.47786	0.557	T	0.79276	-0.1870	9	0.87932	D	0	.	8.4031	0.32599	0.1342:0.2374:0.6284:0.0	.	1367	Q9Y2K3	MYH15_HUMAN	D	1367	ENSP00000273353:A1367D	ENSP00000273353:A1367D	A	-	2	0	MYH15	109615874	0.589000	0.26807	0.024000	0.17045	0.616000	0.37450	1.068000	0.30629	0.004000	0.14682	-0.150000	0.13652	GCT	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353935.1		-	ENST00000273353.3	Missense_Mutation	SNP	3 : 108133184 - 108133184 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	297	33
ZNF853	54753	broad.mit.edu	37	7	6662260	6662260	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6662260C>T	ENST00000457543.3	+	3	2196	c.1638C>T	c.(1636-1638)tgC>tgT	p.C546C		NM_017560.1	NP_060030.1	P0CG23	ZN853_HUMAN	zinc finger protein 853	546						intracellular	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)	2						GCTCCTACTGCGCCAAGCGCT	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	16	14			NA	NA	7		NA											NA				6662260		687	1587	2274	SO:0001819	synonymous_variant			AL133055	CCDS59048.1	7p22.1	2013-01-08				ENSG00000236609	54753	54753		Zinc fingers, C2H2-type	21767	protein-coding gene	gene with protein product					NA		Standard	NM_017560	NM_017560	NA	Approved	DKFZp434J1015	uc011jwz.2	P0CG23		ENST00000457543.3:c.1638C>T	7.37:g.6662260C>T		NA		37	CCDS59048.1																																																																																			ZNF853-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324169.2		+	ENST00000457543.3	Silent	SNP	7 : 6662260 - 6662260 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	72	20
CD81	975	broad.mit.edu	37	11	2415352	2415352	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2415352C>A	ENST00000263645.5	+	3	465	c.209C>A	c.(208-210)gCt>gAt	p.A70D	CD81_ENST00000481687.1_Missense_Mutation_p.A76D|CD81_ENST00000526072.1_5'UTR|CD81_ENST00000381036.3_Missense_Mutation_p.A108D|CD81_ENST00000524805.1_3'UTR|CD81_ENST00000492627.1_5'UTR	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	70					activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCTGTGGGCGCTGTCATGATG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													183	121	142			NA	NA	11		NA											NA				2415352		2202	4299	6501	SO:0001583	missense				CCDS7734.1, CCDS73240.1	11p15.5	2014-09-17	2006-03-28		ENSG00000110651	ENSG00000110651	975	975		CD molecules, Tetraspanins	1701	protein-coding gene	gene with protein product		186845	CD81 antigen (target of antiproliferative antibody 1)	TAPA1	NA	1650385	Standard	NM_004356	XM_005253260	NA	Approved	TAPA-1, TSPAN28	uc001lwf.1	P60033	OTTHUMG00000009892	ENST00000263645.5:c.209C>A	11.37:g.2415352C>A	ENSP00000263645:p.Ala70Asp	NA	P18582|Q5U0J6	37	CCDS7734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.9|23.9	4.466384|4.466384	0.84425|0.84425	.|.	.|.	ENSG00000110651|ENSG00000110651	ENST00000263645;ENST00000533417;ENST00000527343;ENST00000493525;ENST00000381036;ENST00000492252;ENST00000481687|ENST00000464784	T;T;T;T;T;T;T|.	0.81078|.	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45|.	3.67|3.67	3.67|3.67	0.42095|0.42095	Tetraspanin, conserved site (1);|.	0.060633|.	0.64402|.	D|.	0.000004|.	D|D	0.85535|0.85535	0.5719|0.5719	H|H	0.94658|0.94658	3.565|3.565	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.79108|.	0.992;0.989|.	D|D	0.89969|0.89969	0.4092|0.4092	10|5	0.87932|.	D|.	0|.	.|.	14.4788|14.4788	0.67564|0.67564	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	108;70|.	A6NMH8;P60033|.	.;CD81_HUMAN|.	D|M	70;65;59;62;108;63;76|55	ENSP00000263645:A70D;ENSP00000435633:A65D;ENSP00000433767:A59D;ENSP00000432497:A62D;ENSP00000370424:A108D;ENSP00000432249:A63D;ENSP00000432033:A76D|.	ENSP00000263645:A70D|.	A|L	+|+	2|1	0|2	CD81|CD81	2371928|2371928	0.995000|0.995000	0.38212|0.38212	0.978000|0.978000	0.43139|0.43139	0.837000|0.837000	0.47467|0.47467	4.170000|4.170000	0.58229|0.58229	2.079000|2.079000	0.62486|0.62486	0.462000|0.462000	0.41574|0.41574	GCT|CTG	CD81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000027357.4		+	ENST00000263645.5	Missense_Mutation	SNP	11 : 2415352 - 2415352 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	10
CORO2B	10391	broad.mit.edu	37	15	68937536	68937536	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:68937536G>A	ENST00000543950.1	+	2	392	c.38G>A	c.(37-39)cGg>cAg	p.R13Q	CORO2B_ENST00000261861.5_Missense_Mutation_p.R13Q|CORO2B_ENST00000566799.1_Missense_Mutation_p.R18Q|CORO2B_ENST00000540068.1_Missense_Mutation_p.R13Q	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	18					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding	p.R18Q(1)		kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCCAAGTTCCGGAATGTCTAC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											87	73	77			NA	NA	15		NA											NA				68937536		2200	4298	6498	SO:0001583	missense			AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647	10391	10391		Coronins, WD repeat domain containing	2256	protein-coding gene	gene with protein product	clipin C, coronin, actin-binding, 2B	605002	coronin, actin-binding protein, 2B		NA	10224093, 10231032	Standard	NM_006091	NM_001190456	NA	Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000543950.1:c.38G>A	15.37:g.68937536G>A	ENSP00000443819:p.Arg13Gln	NA	A8K0W3|O94767|Q8TAN1	37	CCDS53952.1	.	.	.	.	.	.	.	.	.	.	G	34	5.338139	0.95758	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.71817	-0.6;-0.6	4.38	4.38	0.52667	Domain of unknown function DUF1899 (1);	0.000000	0.85682	D	0.000000	D	0.88078	0.6340	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.91793	0.5445	10	0.87932	D	0	-17.718	15.8812	0.79207	0.0:0.0:1.0:0.0	.	18	Q9UQ03	COR2B_HUMAN	Q	18;13;13	ENSP00000446250:R13Q;ENSP00000443819:R13Q	ENSP00000261861:R18Q	R	+	2	0	CORO2B	66724590	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.540000	0.98080	2.142000	0.66516	0.563000	0.77884	CGG	CORO2B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257068.3		+	ENST00000543950.1	Missense_Mutation	SNP	15 : 68937536 - 68937536 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	231	48
URGCP	55665	broad.mit.edu	37	7	43917061	43917061	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43917061C>T	ENST00000336086.6	-	4	4108	c.1872G>A	c.(1870-1872)acG>acA	p.T624T	URGCP_ENST00000443736.1_Silent_p.T624T|URGCP_ENST00000402306.3_Silent_p.T658T|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000447717.3_Silent_p.T624T|URGCP_ENST00000223341.7_Silent_p.T624T|URGCP_ENST00000453200.1_Silent_p.T667T|URGCP_ENST00000497914.1_5'UTR			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	667					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCATGCTCAGCGTGCTCCCAT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,,	0,4260		0,0,2130	28	32	31		2001,1872,,1974	-1	0.3	7		31	2,8462		0,2,4230	no	coding-synonymous,coding-synonymous,intron,coding-synonymous	URGCP,URGCP-MRPS24	NM_001077663.1,NM_001077664.1,NM_001204871.1,NM_017920.3	,,,	0,2,6360	TT,TC,CC	NA	0.0236,0.0,0.0157	,,,	667/932,624/889,,658/923	43917061	2,12722	2130	4232	6362	SO:0001819	synonymous_variant				CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608	55665	55665			30890	protein-coding gene	gene with protein product	up-regulated gene 4	610337			NA	10819331, 12082552	Standard	NM_001077664	NM_017920	NA	Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000336086.6:c.1872G>A	7.37:g.43917061C>T		NA	Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	37	CCDS43572.1																																																																																			URGCP-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000338997.1		-	ENST00000336086.6	Silent	SNP	7 : 43917061 - 43917061 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	269	47
VCAN	1462	broad.mit.edu	37	5	82837166	82837166	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82837166A>G	ENST00000265077.3	+	8	8909	c.8344A>G	c.(8344-8346)Att>Gtt	p.I2782V	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.I1795V	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2782	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CTATCTAAGTATTGCTACTAC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	97	100			NA	NA	5		NA											NA				82837166		2203	4300	6503	SO:0001583	missense			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427	1462	1462		Immunoglobulin superfamily / V-set domain containing, Proteoglycans / Extracellular Matrix : Hyalectans	2464	protein-coding gene	gene with protein product	versican proteoglycan	118661	chondroitin sulfate proteoglycan 2	CSPG2	NA	1478664, 21063030	Standard	NM_004385	NM_004385	NA	Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.8344A>G	5.37:g.82837166A>G	ENSP00000265077:p.Ile2782Val	NA	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	8.071	0.770228	0.15983	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.38722	1.12;1.12	6.17	5.0	0.66597	.	0.176773	0.40469	N	0.001084	T	0.33585	0.0868	L	0.43152	1.355	0.80722	D	1	B;B	0.23540	0.084;0.087	B;B	0.24006	0.05;0.033	T	0.12041	-1.0563	10	0.31617	T	0.26	.	9.6564	0.39928	0.8694:0.0:0.1306:0.0	.	1795;2782	P13611-2;P13611	.;CSPG2_HUMAN	V	2782;1795	ENSP00000265077:I2782V;ENSP00000340062:I1795V	ENSP00000265077:I2782V	I	+	1	0	VCAN	82872922	0.924000	0.31332	0.976000	0.42696	0.039000	0.13416	1.350000	0.34010	2.371000	0.80710	0.533000	0.62120	ATT	VCAN-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254092.3		+	ENST00000265077.3	Missense_Mutation	SNP	5 : 82837166 - 82837166 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	464	81
MAT1A	4143	broad.mit.edu	37	10	82043688	82043688	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:82043688G>A	ENST00000372213.3	-	3	536	c.276C>T	c.(274-276)taC>taT	p.Y92Y		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	92					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CTGAGTCATCGTAGCCGATGT	0.582		NA											G	2	9e-04	NA	NA	2184	NA	0.9999	,	,	NA	2e-04	0.0026	NA	NA	0.001	0.9406	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0													142	102	116			NA	NA	10		NA											NA				82043688		2203	4300	6503	SO:0001819	synonymous_variant				CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224	4143	4143			6903	protein-coding gene	gene with protein product	S-adenosylmethionine synthetase	610550			NA	8393662	Standard	NM_000429	XM_005269842	NA	Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.276C>T	10.37:g.82043688G>A		NA	D3DWD5|Q5QP09	37	CCDS7365.1																																																																																			MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049070.1		-	ENST00000372213.3	Silent	SNP	10 : 82043688 - 82043688 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	260	45
BPGM	669	broad.mit.edu	37	7	134346540	134346540	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134346540C>T	ENST00000393132.2	+	3	770	c.281C>T	c.(280-282)gCc>gTc	p.A94V	BPGM_ENST00000418040.1_Missense_Mutation_p.A94V|BPGM_ENST00000344924.3_Missense_Mutation_p.A94V	NM_199186.2	NP_954655.1	P07738	PMGE_HUMAN	2,3-bisphosphoglycerate mutase	94					glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			breast(1)|endometrium(1)|lung(2)|stomach(1)	5						CACTATGGGGCCTTGATCGGT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	68	70			NA	NA	7		NA											NA				134346540		2203	4300	6503	SO:0001583	missense			BC017050	CCDS5833.1	7q33	2012-10-02			ENSG00000172331	ENSG00000172331	669	669	5.4.2.4		1093	protein-coding gene	gene with protein product		613896			NA		Standard	NM_001724	NM_199186	NA	Approved		uc003vrw.3	P07738	OTTHUMG00000155380	ENST00000393132.2:c.281C>T	7.37:g.134346540C>T	ENSP00000376840:p.Ala94Val	NA		37	CCDS5833.1	.	.	.	.	.	.	.	.	.	.	C	32	5.118106	0.94385	.	.	ENSG00000172331	ENST00000344924;ENST00000418040;ENST00000393132	T;T;T	0.72282	-0.64;-0.64;-0.64	6.02	5.13	0.70059	Histidine phosphatase superfamily, clade-1 (2);	0.090205	0.85682	D	0.000000	T	0.79975	0.4539	M	0.63169	1.94	0.80722	D	1	D	0.67145	0.996	P	0.57324	0.818	T	0.82727	-0.0314	10	0.87932	D	0	-9.1969	17.3607	0.87349	0.0:0.875:0.125:0.0	.	94	P07738	PMGE_HUMAN	V	94	ENSP00000342032:A94V;ENSP00000399838:A94V;ENSP00000376840:A94V	ENSP00000342032:A94V	A	+	2	0	BPGM	133997080	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.092000	0.71414	1.543000	0.49345	0.650000	0.86243	GCC	BPGM-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339763.1		+	ENST00000393132.2	Missense_Mutation	SNP	7 : 134346540 - 134346540 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	254	44
OR10G9	219870	broad.mit.edu	37	11	123894465	123894465	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123894465G>A	ENST00000375024.1	+	1	746	c.746G>A	c.(745-747)tGc>tAc	p.C249Y		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTGGTCCTTTGCTTTTTTGTT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	147	154			NA	NA	11		NA											NA				123894465		2201	4299	6500	SO:0001583	missense			AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981	219870	219870		GPCR / Class A : Olfactory receptors	15129	protein-coding gene	gene with protein product				OR10G10P	NA		Standard	NM_001001953	NM_001001953	NA	Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.746G>A	11.37:g.123894465G>A	ENSP00000364164:p.Cys249Tyr	NA		37	CCDS31703.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.212605	0.39102	.	.	ENSG00000236981	ENST00000375024	T	0.00076	8.76	3.35	3.35	0.38373	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000278	T	0.00241	0.0007	N	0.22421	0.69	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60627	-0.7226	10	0.87932	D	0	.	9.6678	0.39994	0.0:0.3635:0.6365:0.0	.	249	Q8NGN4	O10G9_HUMAN	Y	249	ENSP00000364164:C249Y	ENSP00000364164:C249Y	C	+	2	0	OR10G9	123399675	0.000000	0.05858	0.970000	0.41538	0.819000	0.46315	0.517000	0.22832	1.884000	0.54569	0.586000	0.80456	TGC	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387269.1		+	ENST00000375024.1	Missense_Mutation	SNP	11 : 123894465 - 123894465 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	695	132
MICAL1	64780	broad.mit.edu	37	6	109768373	109768373	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109768373G>T	ENST00000358807.3	-	17	2441	c.2130C>A	c.(2128-2130)ctC>ctA	p.L710L	MICAL1_ENST00000368952.4_Silent_p.L729L|MICAL1_ENST00000358577.3_Silent_p.L624L	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	710	LIM zinc-binding.				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CGTTGACACAGAGGCGTTCCA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	122	122			NA	NA	6		NA											NA				109768373		2203	4300	6503	SO:0001819	synonymous_variant			AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596	64780	64780			20619	protein-coding gene	gene with protein product		607129	NEDD9 interacting protein with calponin homology and LIM domains	NICAL	NA	11827972	Standard	NM_022765	NM_022765	NA	Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2130C>A	6.37:g.109768373G>T		NA	E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	37	CCDS5076.1																																																																																			MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041759.2		-	ENST00000358807.3	Silent	SNP	6 : 109768373 - 109768373 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	672	95
INTS7	25896	broad.mit.edu	37	1	212180785	212180785	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212180785G>A	ENST00000366994.3	-	6	667	c.563C>T	c.(562-564)gCg>gTg	p.A188V	INTS7_ENST00000366992.3_Missense_Mutation_p.A188V|INTS7_ENST00000440600.2_Missense_Mutation_p.A139V|INTS7_ENST00000366993.3_Missense_Mutation_p.A188V|INTS7_ENST00000469606.1_5'UTR	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	188					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TACTGGTGTCGCTAAACCTAG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	90	93			NA	NA	1		NA											NA				212180785		2203	4300	6503	SO:0001583	missense			AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493	25896	25896			24484	protein-coding gene	gene with protein product		611350	chromosome 1 open reading frame 73	C1orf73	NA	16239144	Standard	NM_015434	NM_015434	NA	Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.563C>T	1.37:g.212180785G>A	ENSP00000355961:p.Ala188Val	NA	B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	37	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068795	0.55539	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	6.04	6.04	0.98038	Armadillo-like helical (1);Armadillo-type fold (1);	0.148508	0.64402	D	0.000012	T	0.35128	0.0921	L	0.43923	1.385	0.54753	D	0.99998	P;P;P;P	0.50443	0.935;0.935;0.935;0.935	P;P;P;P	0.44772	0.46;0.46;0.46;0.46	T	0.01460	-1.1349	10	0.37606	T	0.19	-9.9486	20.5792	0.99380	0.0:0.0:1.0:0.0	.	139;188;188;188	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	V	188;188;188;139	ENSP00000355961:A188V;ENSP00000355960:A188V;ENSP00000355959:A188V;ENSP00000388908:A139V	ENSP00000355959:A188V	A	-	2	0	INTS7	210247408	1.000000	0.71417	0.885000	0.34714	0.036000	0.12997	5.077000	0.64419	2.873000	0.98535	0.561000	0.74099	GCG	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090142.1		-	ENST00000366994.3	Missense_Mutation	SNP	1 : 212180785 - 212180785 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	378	60
FGA	2243	broad.mit.edu	37	4	155507398	155507398	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155507398G>A	ENST00000302053.3	-	5	1261	c.1183C>T	c.(1183-1185)Cca>Tca	p.P395S	FGA_ENST00000403106.3_Missense_Mutation_p.P395S	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	395					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GGGCTATCTGGCCTAAAACTT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(143;340 1922 20892 22370 48145)							NA				0													81	86	84			NA	NA	4		NA											NA				155507398		2203	4300	6503	SO:0001583	missense				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560	2243	2243		Fibrinogen C domain containing, Endogenous ligands	3661	protein-coding gene	gene with protein product		134820	fibrinogen, A alpha polypeptide		NA		Standard	NM_000508	NM_000508	NA	Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1183C>T	4.37:g.155507398G>A	ENSP00000306361:p.Pro395Ser	NA	D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	37	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692833	0.68271	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.69685	-0.42;1.61	5.65	4.8	0.61643	.	37.045900	0.00166	N	0.000000	D	0.82393	0.5027	M	0.73962	2.25	0.27372	N	0.955658	P;D	0.89917	0.886;1.0	P;D	0.83275	0.51;0.996	T	0.52779	-0.8530	10	0.46703	T	0.11	.	7.4811	0.27406	0.0832:0.0:0.7497:0.1671	.	395;395	P02671-2;P02671	.;FIBA_HUMAN	S	395	ENSP00000306361:P395S;ENSP00000385981:P395S	ENSP00000306361:P395S	P	-	1	0	FGA	155726848	0.996000	0.38824	0.665000	0.29768	0.944000	0.59088	1.984000	0.40658	1.379000	0.46325	0.650000	0.86243	CCA	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317593.1		-	ENST00000302053.3	Missense_Mutation	SNP	4 : 155507398 - 155507398 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	630	105
APBA1	320	broad.mit.edu	37	9	72067200	72067200	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72067200C>A	ENST00000265381.4	-	9	2028	c.1806G>T	c.(1804-1806)caG>caT	p.Q602H		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	602	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GTCCGATGGACTGTGCAATCA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	93	101			NA	NA	9		NA											NA				72067200		2203	4300	6503	SO:0001583	missense			AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282	320	320			578	protein-coding gene	gene with protein product		602414		MINT1	NA	7678331, 7719031	Standard	NM_001163	NM_001163	NA	Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1806G>T	9.37:g.72067200C>A	ENSP00000265381:p.Gln602His	NA	O14914|O60570|Q5VYR8	37	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	c	18.56	3.650194	0.67472	.	.	ENSG00000107282	ENST00000265381	T	0.21191	2.02	5.24	2.38	0.29361	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.43567	0.1253	M	0.76170	2.325	0.80722	D	1	D	0.69078	0.997	D	0.85130	0.997	T	0.42120	-0.9470	10	0.87932	D	0	-15.9216	11.3888	0.49802	0.0:0.7916:0.0:0.2084	.	602	Q02410	APBA1_HUMAN	H	602	ENSP00000265381:Q602H	ENSP00000265381:Q602H	Q	-	3	2	APBA1	71257020	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.631000	0.46502	0.732000	0.32470	-0.726000	0.03593	CAG	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052589.2		-	ENST00000265381.4	Missense_Mutation	SNP	9 : 72067200 - 72067200 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	47
IPO8	10526	broad.mit.edu	37	12	30806011	30806011	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:30806011A>G	ENST00000544829.1	-	14	1673	c.1349T>C	c.(1348-1350)aTt>aCt	p.I450T	IPO8_ENST00000256079.4_Missense_Mutation_p.I655T	NM_001190995.1	NP_001177924.1	O15397	IPO8_HUMAN	importin 8	655					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CAGGGAAAGAATTTCTTCATA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	56	53			NA	NA	12		NA											NA				30806011		2200	4298	6498	SO:0001583	missense			U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704	10526	10526		Importins	9853	protein-coding gene	gene with protein product		605600	RAN binding protein 8	RANBP8	NA	9214382	Standard	NM_006390	NM_006390	NA	Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000544829.1:c.1349T>C	12.37:g.30806011A>G	ENSP00000444520:p.Ile450Thr	NA		37	CCDS53773.1	.	.	.	.	.	.	.	.	.	.	A	11.95	1.792267	0.31685	.	.	ENSG00000133704	ENST00000256079;ENST00000545286;ENST00000544829	T;T	0.56941	0.43;0.43	4.78	3.64	0.41730	Armadillo-like helical (1);Armadillo-type fold (1);	0.093988	0.64402	N	0.000001	T	0.60064	0.2240	L	0.55103	1.725	0.58432	D	0.999995	B;D;P	0.57257	0.425;0.979;0.895	B;P;P	0.57846	0.3;0.828;0.468	T	0.59506	-0.7442	10	0.52906	T	0.07	-11.0547	10.1644	0.42871	0.9203:0.0:0.0797:0.0	.	450;131;655	B7Z7M3;Q59F59;O15397	.;.;IPO8_HUMAN	T	655;131;450	ENSP00000256079:I655T;ENSP00000444520:I450T	ENSP00000256079:I655T	I	-	2	0	IPO8	30697278	1.000000	0.71417	0.987000	0.45799	0.801000	0.45260	8.988000	0.93501	0.790000	0.33803	0.533000	0.62120	ATT	IPO8-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402699.1		-	ENST00000544829.1	Missense_Mutation	SNP	12 : 30806011 - 30806011 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	353	72
ACTBL2	345651	broad.mit.edu	37	5	56778460	56778460	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56778460G>A	ENST00000423391.1	-	1	176	c.75C>T	c.(73-75)gaC>gaT	p.D25D	CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	25						cytoplasm|cytoskeleton	ATP binding	p.D25D(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		GGGGGGCATCGTCACCACCAA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)						G		3,4403	6.2+/-15.9	0,3,2200	85	58	67		75	-6.9	0.6	5		67	0,8600		0,0,4300	no	coding-synonymous	ACTBL2	NM_001017992.2		0,3,6500	AA,AG,GG	NA	0.0,0.0681,0.0231		25/377	56778460	3,13003	2203	4300	6503	SO:0001819	synonymous_variant				CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067	345651	345651			17780	protein-coding gene	gene with protein product		614835			NA		Standard	NM_001017992	NM_001017992	NA	Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.75C>T	5.37:g.56778460G>A		NA	B2RPJ1|Q562R2|Q562S9|Q562X8	37	CCDS34163.1																																																																																			ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368579.1		-	ENST00000423391.1	Silent	SNP	5 : 56778460 - 56778460 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	238	39
MAGEE2	139599	broad.mit.edu	37	X	75004464	75004464	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:75004464C>T	ENST00000373359.2	-	1	615	c.423G>A	c.(421-423)ggG>ggA	p.G141G		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	141	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCAGGTTCAACCCAAAGACCT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	28	30			NA	NA	X		NA											NA				75004464		2203	4300	6503	SO:0001819	synonymous_variant			AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675	139599	139599			24935	protein-coding gene	gene with protein product		300760			NA	11454705	Standard	NM_138703	NM_138703	NA	Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.423G>A	X.37:g.75004464C>T		NA	Q5JSI5	37	CCDS14431.1																																																																																			MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057288.1		-	ENST00000373359.2	Silent	SNP	X : 75004464 - 75004464 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	89	25
CRX	1406	broad.mit.edu	37	19	48342621	48342621	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48342621G>T	ENST00000221996.7	+	4	503	c.297G>T	c.(295-297)caG>caT	p.Q99H	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Missense_Mutation_p.Q99H	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	99					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		agcagcgacagcagcagaaac	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(57;461 1196 22201 40716 47188)							NA				0													54	63	60			NA	NA	19		NA											NA				48342621		2202	4300	6502	SO:0001583	missense			AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392	1406	1406		Homeoboxes / PRD class	2383	protein-coding gene	gene with protein product	orthodenticle homeobox 3	602225		CORD2	NA	9390563, 9537410	Standard	NM_000554	NM_000554	NA	Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.297G>T	19.37:g.48342621G>T	ENSP00000221996:p.Gln99His	NA		37	CCDS12706.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.564636	0.45694	.	.	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.91124	-2.79;-2.79	3.86	2.8	0.32819	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.88183	0.6368	N	0.24115	0.695	0.58432	D	0.999991	D	0.61080	0.989	P	0.59115	0.852	D	0.86203	0.1620	10	0.56958	D	0.05	-8.5147	7.3399	0.26632	0.148:0.0:0.852:0.0	.	99	O43186	CRX_HUMAN	H	99	ENSP00000221996:Q99H;ENSP00000445565:Q99H	ENSP00000221996:Q99H	Q	+	3	2	CRX	53034433	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.806000	0.47947	0.739000	0.32628	0.460000	0.39030	CAG	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409812.4		+	ENST00000221996.7	Missense_Mutation	SNP	19 : 48342621 - 48342621 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	992	207
CSMD1	64478	broad.mit.edu	37	8	2800060	2800060	+	Missense_Mutation	SNP	G	G	A	rs78595521		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:2800060G>A	ENST00000602557.1	-	70	11027	c.10472C>T	c.(10471-10473)gCt>gTt	p.A3491V	CSMD1_ENST00000542608.1_Missense_Mutation_p.A3313V|CSMD1_ENST00000602723.1_Missense_Mutation_p.A3314V|CSMD1_ENST00000537824.1_Missense_Mutation_p.A3490V|CSMD1_ENST00000520002.1_Missense_Mutation_p.A3491V|CSMD1_ENST00000400186.3_Missense_Mutation_p.A3314V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3491						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGAATGGCAGCCGCCACAGA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	35	33			NA	NA	8		NA											NA				2800060		1863	4098	5961	SO:0001583	missense					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117	64478	64478		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	14026	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 24	608397			NA		Standard	NM_033225	NM_033225	NA	Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000602557.1:c.10472C>T	8.37:g.2800060G>A	ENSP00000473359:p.Ala3491Val	NA	Q0H0J5|Q96QU9|Q96RM4	37		.	.	.	.	.	.	.	.	.	.	G	11.44	1.640034	0.29157	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.28454	1.61;1.76;1.78;1.61	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.52092	0.1713	L	0.61218	1.895	0.80722	D	1	D;P;D	0.69078	0.966;0.533;0.997	B;B;D	0.68483	0.284;0.263;0.958	T	0.32375	-0.9909	10	0.17369	T	0.5	.	19.7363	0.96205	0.0:0.0:1.0:0.0	.	3491;3491;3313	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	V	3314;3491;3352;3490;3313	ENSP00000383047:A3314V;ENSP00000430733:A3491V;ENSP00000441462:A3490V;ENSP00000446243:A3313V	ENSP00000320445:A3352V	A	-	2	0	CSMD1	2787467	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	5.548000	0.67255	2.657000	0.90304	0.637000	0.83480	GCT	CSMD1-017	NOVEL	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000467636.1		-	ENST00000602557.1	Missense_Mutation	SNP	8 : 2800060 - 2800060 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	62	20
PLCD4	84812	broad.mit.edu	37	2	219498467	219498467	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219498467G>A	ENST00000432688.1	+	12	1927	c.1685G>A	c.(1684-1686)cGc>cAc	p.R562H	PLCD4_ENST00000450993.2_Missense_Mutation_p.R530H|RP11-548H3.1_ENST00000607946.1_RNA|PLCD4_ENST00000417849.1_Missense_Mutation_p.R530H			Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	530	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AAGGCCAAGCGCCTCATCAAG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	0,3796		0,0,1898	55	51	52		1589	1.2	1	2		52	2,8240		0,2,4119	no	missense	PLCD4	NM_032726.3	29	0,2,6017	AA,AG,GG	NA	0.0243,0.0,0.0166	possibly-damaging	530/763	219498467	2,12036	1898	4121	6019	SO:0001583	missense			AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	84812	84812	3.1.4.11	EF-hand domain containing	9062	protein-coding gene	gene with protein product		605939			NA	10702683, 9056492	Standard		NM_032726	NA	Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000432688.1:c.1685G>A	2.37:g.219498467G>A	ENSP00000396185:p.Arg562His	NA	Q53FS8	37		.	.	.	.	.	.	.	.	.	.	G	11.75	1.730324	0.30684	0.0	2.43E-4	ENSG00000115556	ENST00000450993;ENST00000251959;ENST00000417849;ENST00000432688	T;T;T	0.54279	0.58;0.58;0.58	5.53	1.16	0.20824	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.519476	0.23340	N	0.049252	T	0.46600	0.1401	M	0.62723	1.935	0.25396	N	0.988486	B	0.12013	0.005	B	0.04013	0.001	T	0.46679	-0.9174	10	0.87932	D	0	.	9.4467	0.38701	0.6826:0.0:0.3174:0.0	.	530	Q9BRC7	PLCD4_HUMAN	H	530;530;530;562	ENSP00000388631:R530H;ENSP00000396942:R530H;ENSP00000396185:R562H	ENSP00000251959:R530H	R	+	2	0	PLCD4	219206711	1.000000	0.71417	0.960000	0.40013	0.395000	0.30598	2.229000	0.42990	0.011000	0.14865	0.655000	0.94253	CGC	PLCD4-007	NOVEL	non_canonical_conserved|not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000336882.1		+	ENST00000432688.1	Missense_Mutation	SNP	2 : 219498467 - 219498467 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	206	62
CNTD1	124817	broad.mit.edu	37	17	40958824	40958824	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40958824G>A	ENST00000588527.1	+	5	676	c.464G>A	c.(463-465)aGt>aAt	p.S155N	CNTD1_ENST00000315066.5_3'UTR|CNTD1_ENST00000588408.1_Missense_Mutation_p.S238N			Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	238	Cyclin N-terminal.									central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TCCACTCCCAGTCAGCTGCAA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	75	79			NA	NA	17		NA											NA				40958824		2203	4300	6503	SO:0001583	missense			AK097456	CCDS11440.1	17q21.31	2014-07-03	2006-03-31	2006-03-31	ENSG00000176563	ENSG00000176563	124817	124817			26847	protein-coding gene	gene with protein product			cyclin N-terminal domain containing	CNTD	NA	24891606	Standard	NM_173478	NM_173478	NA	Approved	FLJ40137	uc002ibm.4	Q8N815		ENST00000588527.1:c.464G>A	17.37:g.40958824G>A	ENSP00000468725:p.Ser155Asn	NA	Q658Q6|Q8NEP1	37		.	.	.	.	.	.	.	.	.	.	G	18.32	3.598277	0.66332	.	.	ENSG00000176563	ENST00000315066	.	.	.	5.49	4.44	0.53790	.	0.202434	0.53938	D	0.000060	T	0.44891	0.1315	M	0.61703	1.905	0.26487	N	0.97502	P	0.47106	0.89	P	0.45232	0.474	T	0.48198	-0.9056	9	0.59425	D	0.04	-10.6058	12.565	0.56304	0.0:0.1175:0.7473:0.1352	.	238	Q8N815	CNTD1_HUMAN	N	238	.	ENSP00000316647:S238N	S	+	2	0	CNTD1	38212350	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	1.207000	0.32333	2.568000	0.86640	0.557000	0.71058	AGT	CNTD1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000452402.1		+	ENST00000588527.1	Missense_Mutation	SNP	17 : 40958824 - 40958824 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	281	50
BRWD1	54014	broad.mit.edu	37	21	40604155	40604155	+	Missense_Mutation	SNP	T	T	G	rs145677980	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40604155T>G	ENST00000380800.3	-	25	3046	c.2948A>C	c.(2947-2949)aAt>aCt	p.N983T	BRWD1_ENST00000333229.2_Missense_Mutation_p.N983T|BRWD1_ENST00000342449.3_Missense_Mutation_p.N983T			Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	983					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTCATAAATATTATTTCTTCT	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(170;988 1986 4794 16843 39731)							NA				0													69	69	69			NA	NA	21		NA											NA				40604155		2202	4297	6499	SO:0001583	missense			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658	54014	54014		WD repeat domain containing	12760	protein-coding gene	gene with protein product			chromosome 21 open reading frame 107, WD repeat domain 9	C21orf107, WDR9	NA		Standard	NM_033656	NM_033656	NA	Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000380800.3:c.2948A>C	21.37:g.40604155T>G	ENSP00000370178:p.Asn983Thr	NA	C9JK25|O43721|Q5R2V0|Q5R2V1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	37		.	.	.	.	.	.	.	.	.	.	T	21.7	4.181532	0.78677	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.56275	0.47;0.5;0.58	5.55	5.55	0.83447	.	0.127274	0.53938	D	0.000057	T	0.56934	0.2019	L	0.50333	1.59	0.80722	D	1	B;D	0.57899	0.337;0.981	B;P	0.49637	0.173;0.617	T	0.58912	-0.7552	10	0.48119	T	0.1	-4.9369	15.6973	0.77509	0.0:0.0:0.0:1.0	.	983;983	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	T	983	ENSP00000330753:N983T;ENSP00000344333:N983T;ENSP00000370178:N983T	ENSP00000330753:N983T	N	-	2	0	BRWD1	39526025	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	4.680000	0.61656	2.110000	0.64415	0.482000	0.46254	AAT	BRWD1-016	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000339983.1		-	ENST00000380800.3	Missense_Mutation	SNP	21 : 40604155 - 40604155 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	202	44
KRT2	3849	broad.mit.edu	37	12	53043735	53043735	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53043735C>T	ENST00000309680.3	-	3	845	c.824G>A	c.(823-825)cGc>cAc	p.R275H		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	275	Coil 1B.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		AGCAGCTGTGCGCTTATTGAT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	145	152			NA	NA	12		NA											NA				53043735		2203	4300	6503	SO:0001583	missense				CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867	3849	3849		-, Intermediate filaments type II, keratins (basic)	6439	protein-coding gene	gene with protein product	epidermal ichthyosis bullosa of Siemens	600194	keratin 2A (epidermal ichthyosis bullosa of Siemens)	KRT2A	NA	7524919, 16831889	Standard	NM_000423	NM_000423	NA	Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.824G>A	12.37:g.53043735C>T	ENSP00000310861:p.Arg275His	NA	Q4VAQ2	37	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112912	0.77210	.	.	ENSG00000172867	ENST00000309680	D	0.89939	-2.59	5.44	3.59	0.41128	Filament (1);	.	.	.	.	D	0.94046	0.8092	M	0.86268	2.805	0.36264	D	0.854743	D	0.89917	1.0	D	0.87578	0.998	D	0.95264	0.8371	9	0.72032	D	0.01	.	10.6753	0.45783	0.1324:0.7989:0.0:0.0687	.	275	P35908	K22E_HUMAN	H	275	ENSP00000310861:R275H	ENSP00000310861:R275H	R	-	2	0	KRT2	51330002	0.990000	0.36364	0.990000	0.47175	0.815000	0.46073	3.796000	0.55507	0.777000	0.33496	0.650000	0.86243	CGC	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405704.1		-	ENST00000309680.3	Missense_Mutation	SNP	12 : 53043735 - 53043735 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	463	72
SOGA1	140710	broad.mit.edu	37	20	35443843	35443843	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35443843C>T	ENST00000237536.4	-	5	2343	c.2002G>A	c.(2002-2004)Gat>Aat	p.D668N	SOGA1_ENST00000357779.3_Missense_Mutation_p.D430N|SOGA1_ENST00000279034.6_Missense_Mutation_p.D430N|SOGA1_ENST00000456801.2_Missense_Mutation_p.D271N	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	430										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						ACCAGGACATCGATGGCCTTA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	26	25			NA	NA	20		NA											NA				35443843		2203	4300	6503	SO:0001583	missense			AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639	140710	140710			16111	protein-coding gene	gene with protein product	suppressor of glucose by autophagy, suppressor of glucose from autophagy		chromosome 20 open reading frame 117, KIAA0889	C20orf117, KIAA0889	NA	20813965	Standard	NM_199181	NM_080627	NA	Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000237536.4:c.2002G>A	20.37:g.35443843C>T	ENSP00000237536:p.Asp668Asn	NA	A6NK10|Q14DB2|Q5JW51|Q6ZTG8	37	CCDS54459.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427449	0.83667	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.22336	1.97;1.96;1.97;2.0	4.86	3.92	0.45320	.	0.289003	0.38605	N	0.001625	T	0.37320	0.0999	L	0.50333	1.59	0.33645	D	0.607728	D	0.89917	1.0	D	0.73708	0.981	T	0.50171	-0.8859	10	0.40728	T	0.16	-20.361	12.312	0.54933	0.0:0.9164:0.0:0.0836	.	430	O94964-4	.	N	668;430;271;430	ENSP00000237536:D668N;ENSP00000279034:D430N;ENSP00000413886:D271N;ENSP00000350424:D430N	ENSP00000237536:D668N	D	-	1	0	KIAA0889	34877257	0.999000	0.42202	1.000000	0.80357	0.974000	0.67602	3.353000	0.52247	1.274000	0.44362	0.561000	0.74099	GAT	SOGA1-005	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276635.1		-	ENST00000237536.4	Missense_Mutation	SNP	20 : 35443843 - 35443843 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	97	19
FAM149A	25854	broad.mit.edu	37	4	187084635	187084635	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187084635G>A	ENST00000502970.1	+	9	1309	c.891G>A	c.(889-891)ccG>ccA	p.P297P	FAM149A_ENST00000503432.1_Silent_p.P297P|FAM149A_ENST00000227065.4_Silent_p.P297P|FAM149A_ENST00000356371.5_Silent_p.P588P|FAM149A_ENST00000514153.1_Silent_p.P297P|FAM149A_ENST00000389354.5_Silent_p.P297P			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	588										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		CCTCCGCACCGCACAGACTGG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	78	80			NA	NA	4		NA											NA				187084635		2203	4300	6503	SO:0001819	synonymous_variant			AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794	25854	25854			24527	protein-coding gene	gene with protein product					NA		Standard	NM_001006655	NM_015398	NA	Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000502970.1:c.891G>A	4.37:g.187084635G>A		NA	B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	37	CCDS34117.1																																																																																			FAM149A-006	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361206.1		+	ENST00000502970.1	Silent	SNP	4 : 187084635 - 187084635 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	428	48
RGMB	285704	broad.mit.edu	37	5	98129023	98129023	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:98129023C>T	ENST00000308234.7	+	5	1405	c.1003C>T	c.(1003-1005)Cgt>Tgt	p.R335C	RGMB_ENST00000513185.1_Missense_Mutation_p.R294C	NM_001012761.2	NP_001012779.2	Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	294					axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		CCTTGCCATCCGTATGCCTGA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	46	45			NA	NA	5		NA											NA				98129023		2152	4241	6393	SO:0001583	missense			AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136	285704	285704			26896	protein-coding gene	gene with protein product		612687	RGM domain family, member B		NA	19324014	Standard	NM_173670	NM_001012761	NA	Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000308234.7:c.1003C>T	5.37:g.98129023C>T	ENSP00000308219:p.Arg335Cys	NA	D6R9A0|Q8NC92	37	CCDS47251.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580895	0.65992	.	.	ENSG00000174136	ENST00000308234;ENST00000513185	D;D	0.88818	-2.43;-2.43	5.78	5.78	0.91487	Repulsive guidance molecule, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95357	0.8493	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95388	0.8479	10	0.87932	D	0	-20.8999	19.9851	0.97342	0.0:1.0:0.0:0.0	.	294	Q6NW40	RGMB_HUMAN	C	335;294	ENSP00000308219:R335C;ENSP00000423256:R294C	ENSP00000308219:R335C	R	+	1	0	RGMB	98156923	1.000000	0.71417	0.987000	0.45799	0.080000	0.17528	4.911000	0.63328	2.727000	0.93392	0.655000	0.94253	CGT	RGMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370306.1		+	ENST00000308234.7	Missense_Mutation	SNP	5 : 98129023 - 98129023 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	140	30
SLC7A2	6542	broad.mit.edu	37	8	17396407	17396407	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17396407C>T	ENST00000470360.1	+	3	191	c.74C>T	c.(73-75)cCg>cTg	p.P25L	SLC7A2_ENST00000494857.1_Intron|SLC7A2_ENST00000004531.10_Missense_Mutation_p.P25L|SLC7A2_ENST00000522656.1_Intron|SLC7A2_ENST00000398090.3_Missense_Mutation_p.P25L			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	0					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CCTGCCCCACCGGTTTGCGAC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	93	96			NA	NA	8		NA											NA				17396407		1845	4088	5933	SO:0001583	missense			D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989	6542	6542		Solute carriers	11060	protein-coding gene	gene with protein product		601872		ATRC2	NA	8954799	Standard	NM_003046	NM_001164771	NA	Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000470360.1:c.74C>T	8.37:g.17396407C>T	ENSP00000419873:p.Pro25Leu	NA	B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	37	CCDS6002.2	.	.	.	.	.	.	.	.	.	.	c	1.728	-0.494862	0.04322	.	.	ENSG00000003989	ENST00000470360;ENST00000004531;ENST00000398090	D;D;D	0.88354	-2.37;-2.23;-2.37	3.09	-6.17	0.02091	.	.	.	.	.	T	0.81128	0.4758	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.63216	-0.6687	8	0.72032	D	0.01	.	8.2694	0.31836	0.0:0.2783:0.1131:0.6086	.	25;25	P52569-3;P52569-2	.;.	L	25	ENSP00000419873:P25L;ENSP00000004531:P25L;ENSP00000381164:P25L	ENSP00000004531:P25L	P	+	2	0	SLC7A2	17440786	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.672000	0.05244	-2.514000	0.00502	-3.196000	0.00055	CCG	SLC7A2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253368.3		+	ENST00000470360.1	Missense_Mutation	SNP	8 : 17396407 - 17396407 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	486	88
XIRP1	165904	broad.mit.edu	37	3	39228903	39228903	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39228903C>T	ENST00000340369.3	-	2	2262	c.2034G>A	c.(2032-2034)cgG>cgA	p.R678R	XIRP1_ENST00000396251.1_Silent_p.R678R|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	678							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ATCTCACAGGCCGTCTTCCAC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	42	41			NA	NA	3		NA											NA				39228903		2203	4300	6503	SO:0001819	synonymous_variant			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334	165904	165904			14301	protein-coding gene	gene with protein product		609777	cardiomyopathy associated 1	CMYA1	NA	12203715, 15454575	Standard	XM_093522	NM_001198621	NA	Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.2034G>A	3.37:g.39228903C>T		NA	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	37	CCDS2683.1																																																																																			XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254065.1		-	ENST00000340369.3	Silent	SNP	3 : 39228903 - 39228903 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	384	73
SLC24A2	25769	broad.mit.edu	37	9	19786640	19786640	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:19786640G>A	ENST00000341998.2	-	1	286	c.225C>T	c.(223-225)ggC>ggT	p.G75G	SLC24A2_ENST00000286344.3_Silent_p.G75G	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	75					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CTACCCTAGGGCCACTTACAA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	99	98			NA	NA	9		NA											NA				19786640		2203	4300	6503	SO:0001819	synonymous_variant			AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886	25769	25769		Solute carriers	10976	protein-coding gene	gene with protein product		609838			NA	10662833	Standard	NM_020344	NM_020344	NA	Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.225C>T	9.37:g.19786640G>A		NA	B7ZLL8|Q9NTN5|Q9NZQ4	37	CCDS6493.1																																																																																			SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051866.2		-	ENST00000341998.2	Silent	SNP	9 : 19786640 - 19786640 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	476	23
SDK2	54549	broad.mit.edu	37	17	71418553	71418553	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71418553G>A	ENST00000392650.3	-	15	1918	c.1918C>T	c.(1918-1920)Ctg>Ttg	p.L640L	SDK2_ENST00000388726.3_Silent_p.L640L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	640	Fibronectin type-III 1.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ACACTGGCCAGGAGTACAGTC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	126	133			NA	NA	17		NA											NA				71418553		2203	4300	6503	SO:0001819	synonymous_variant			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188	54549	54549		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	19308	protein-coding gene	gene with protein product		607217	sidekick homolog 2 (chicken)		NA	12230981, 15213259	Standard	NM_019064	NM_001144952	NA	Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.1918C>T	17.37:g.71418553G>A		NA	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	37	CCDS45769.1																																																																																			SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327598.2		-	ENST00000392650.3	Silent	SNP	17 : 71418553 - 71418553 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	678	124
CHMP1A	5119	broad.mit.edu	37	16	89712424	89712424	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89712424G>A	ENST00000550102.1	-	0	675				CHMP1A_ENST00000397901.3_3'UTR|CHMP1A_ENST00000535997.2_3'UTR|CHMP1A_ENST00000253475.5_Silent_p.G207G			Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A	NA					cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		GAGGACAGGAGCCTTCCAGCA	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	54	50			NA	NA	16		NA											NA				89712424		2083	4199	6282	SO:0001624	3_prime_UTR_variant			U58048	CCDS45552.1	16q24.3	2011-09-21	2011-09-21	2007-03-20	ENSG00000131165	ENSG00000131165	5119	5119		Charged multivesicular body proteins	8740	protein-coding gene	gene with protein product		164010	procollagen (type III) N-endopeptidase, chromatin modifying protein 1A	PRSM1, PCOLN3	NA	11559748, 11559747	Standard	NM_002768	NM_002768	NA	Approved	KIAA0047, CHMP1, Vps46A	uc002fnu.4	Q9HD42	OTTHUMG00000169521	ENST00000550102.1:c.*50C>T	16.37:g.89712424G>A		NA	A2RU09|Q14468|Q15779|Q96G31	37																																																																																				CHMP1A-011	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000404586.1		-	ENST00000550102.1	3'UTR	SNP	16 : 89712424 - 89712424 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	149	57
MOB3A	126308	broad.mit.edu	37	19	2078330	2078330	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2078330C>A	ENST00000357066.3	-	3	609	c.230G>T	c.(229-231)gGc>gTc	p.G77V	MOB3A_ENST00000592280.1_Missense_Mutation_p.G77V|MOB3A_ENST00000592143.1_Intron	NM_130807.2	NP_570719.1	Q96BX8	MOL2A_HUMAN	MOB kinase activator 3A	77						intracellular	metal ion binding				NA						GCTGATGGTGCCGTAGATGAG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	70	74			NA	NA	19		NA											NA				2078330		2203	4300	6503	SO:0001583	missense			AK095471	CCDS12081.1	19p13.3	2011-09-28	2011-09-28	2011-09-28	ENSG00000172081	ENSG00000172081	126308	126308		MOB kinase activators	29802	protein-coding gene	gene with protein product	MOB LAK		MOB1, Mps One Binder kinase activator-like 2A (yeast)	MOBKL2A	NA	12477932	Standard	NM_130807	NM_130807	NA	Approved	MOB1C, MOB-LAK, moblak	uc002luv.3	Q96BX8		ENST00000357066.3:c.230G>T	19.37:g.2078330C>A	ENSP00000349575:p.Gly77Val	NA	B3KTF1|O75249|Q8TF69	37	CCDS12081.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705448	0.89018	.	.	ENSG00000172081	ENST00000357066	.	.	.	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	D	0.90157	0.6924	H	0.98407	4.225	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94005	0.7279	9	0.87932	D	0	-50.1314	15.7938	0.78394	0.0:1.0:0.0:0.0	.	77	Q96BX8	MOB3A_HUMAN	V	77	.	ENSP00000349575:G77V	G	-	2	0	MOBKL2A	2029330	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.454000	0.80714	2.301000	0.77427	0.555000	0.69702	GGC	MOB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450893.1		-	ENST00000357066.3	Missense_Mutation	SNP	19 : 2078330 - 2078330 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	58
SYNPR	132204	broad.mit.edu	37	3	63600932	63600932	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:63600932T>C	ENST00000479198.1	+	0	771				SYNPR_ENST00000478300.1_Silent_p.A211A|SYNPR_ENST00000465156.1_Silent_p.A127A|SYNPR_ENST00000295894.5_Silent_p.A191A|SYNPR_ENST00000460711.1_Silent_p.A202A			Q8TBG9	SYNPR_HUMAN	synaptoporin	NA						cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		TTCTCTGGGCTGGAAACATAT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(29;1052 1116 20025 32519)							NA				0													44	40	41			NA	NA	3		NA											NA				63600932		1825	4085	5910	SO:0001624	3_prime_UTR_variant			AF411860	CCDS46859.1, CCDS46860.1	3p14.3	2011-07-28			ENSG00000163630	ENSG00000163630	132204	132204			16507	protein-coding gene	gene with protein product					NA	8034131, 12974474	Standard		NM_144642	NA	Approved	MGC26651, SPO	uc003dlp.3	Q8TBG9	OTTHUMG00000158699	ENST00000479198.1:c.*44T>C	3.37:g.63600932T>C		NA	B2R675	37																																																																																				SYNPR-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000351789.1		+	ENST00000479198.1	3'UTR	SNP	3 : 63600932 - 63600932 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	106	29
MKI67	4288	broad.mit.edu	37	10	129903573	129903573	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129903573G>A	ENST00000368654.3	-	13	6906	c.6531C>T	c.(6529-6531)agC>agT	p.S2177S	MKI67_ENST00000368653.3_Silent_p.S1817S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2177	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCTGCCTCTTGCTACCAGTTA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	144	147			NA	NA	10		NA											NA				129903573		2203	4300	6503	SO:0001819	synonymous_variant			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773	4288	4288			7107	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 105	176741	antigen identified by monoclonal antibody Ki-67		NA	2571566, 16206250	Standard	NM_002417	NM_002417	NA	Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6531C>T	10.37:g.129903573G>A		NA	Q5VWH2	37	CCDS7659.1																																																																																			MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050999.1		-	ENST00000368654.3	Silent	SNP	10 : 129903573 - 129903573 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	927	193
ARHGAP32	9743	broad.mit.edu	37	11	128844286	128844286	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128844286C>T	ENST00000392657.3	-	11	2095	c.1717G>A	c.(1717-1719)Gtc>Atc	p.V573I	ARHGAP32_ENST00000310343.9_Missense_Mutation_p.V922I|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.V848I|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.V573I	NM_014715.3	NP_055530.2	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	922					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GTACCAATGACTTCTGACACC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													187	171	176			NA	NA	11		NA											NA				128844286		2201	4297	6498	SO:0001583	missense			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909	9743	9743		Rho GTPase activating proteins	17399	protein-coding gene	gene with protein product		608541			NA	12446789, 12819203, 17663722	Standard	NM_014715	NM_014715	NA	Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000392657.3:c.1717G>A	11.37:g.128844286C>T	ENSP00000376425:p.Val573Ile	NA	O94820|Q86YL6|Q8IUG4|Q9BWG3	37	CCDS31718.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463911	0.26335	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	5.81	5.81	0.92471	.	0.522811	0.19795	N	0.105895	T	0.20577	0.0495	L	0.57536	1.79	0.22366	N	0.999161	B;B	0.30741	0.008;0.293	B;B	0.24541	0.016;0.054	T	0.17048	-1.0382	10	0.49607	T	0.09	.	9.7703	0.40585	0.1405:0.7889:0.0:0.0706	.	856;922	Q86T64;A7KAX9	.;RHG32_HUMAN	I	922;573;848;856;573	ENSP00000310561:V922I;ENSP00000376425:V573I;ENSP00000432468:V848I;ENSP00000432862:V573I	ENSP00000310561:V922I	V	-	1	0	ARHGAP32	128349496	0.960000	0.32886	1.000000	0.80357	0.683000	0.39861	1.044000	0.30329	2.745000	0.94114	0.655000	0.94253	GTC	ARHGAP32-006	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386249.1		-	ENST00000392657.3	Missense_Mutation	SNP	11 : 128844286 - 128844286 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	423	97
LRP1	4035	broad.mit.edu	37	12	57578941	57578941	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57578941G>A	ENST00000243077.3	+	40	6882	c.6416G>A	c.(6415-6417)gGc>gAc	p.G2139D		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2139					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACCGGCATCGGCGTCCAGCTT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	70	69			NA	NA	12		NA											NA				57578941		2203	4300	6503	SO:0001583	missense			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384	4035	4035		CD molecules, Low density lipoprotein receptors	6692	protein-coding gene	gene with protein product		107770	alpha-2-macroglobulin receptor	APR, A2MR	NA	2548950	Standard	NM_002332	NM_002332	NA	Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.6416G>A	12.37:g.57578941G>A	ENSP00000243077:p.Gly2139Asp	NA	Q2PP12|Q8IVG8	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062711	0.76187	.	.	ENSG00000123384	ENST00000243077	D	0.91295	-2.82	5.31	5.31	0.75309	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.90321	0.6972	N	0.21282	0.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85181	0.1004	10	0.02654	T	1	.	17.7439	0.88414	0.0:0.0:1.0:0.0	.	2139	Q07954	LRP1_HUMAN	D	2139	ENSP00000243077:G2139D	ENSP00000243077:G2139D	G	+	2	0	LRP1	55865208	1.000000	0.71417	0.222000	0.23844	0.120000	0.20174	9.869000	0.99810	2.489000	0.83994	0.491000	0.48974	GGC	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412772.2		+	ENST00000243077.3	Missense_Mutation	SNP	12 : 57578941 - 57578941 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	559	88
ANK2	287	broad.mit.edu	37	4	114163362	114163362	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114163362T>C	ENST00000357077.4	+	9	941	c.888T>C	c.(886-888)acT>acC	p.T296T	ANK2_ENST00000506722.1_Silent_p.T275T|ANK2_ENST00000394537.3_Silent_p.T296T|ANK2_ENST00000264366.6_Silent_p.T296T	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	296					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATGCCAAAACTAGGGTGAGTG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	157	163			NA	NA	4		NA											NA				114163362		2203	4300	6503	SO:0001819	synonymous_variant			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362	287	287		Ankyrin repeat domain containing	493	protein-coding gene	gene with protein product		106410	long (electrocardiographic) QT syndrome 4	LQT4	NA	7485162, 12571597	Standard	NM_001148	NM_001148	NA	Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.888T>C	4.37:g.114163362T>C		NA	Q01485|Q08AC7|Q08AC8|Q7Z3L5	37	CCDS3702.1																																																																																			ANK2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256422.2		+	ENST00000357077.4	Silent	SNP	4 : 114163362 - 114163362 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	49
GZF1	64412	broad.mit.edu	37	20	23345726	23345726	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23345726C>T	ENST00000338121.5	+	2	783	c.706C>T	c.(706-708)Cct>Tct	p.P236S	GZF1_ENST00000377051.2_Missense_Mutation_p.P236S|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	236					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TGTGGAGATCCCTAAAAAGAA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	48	46			NA	NA	20		NA											NA				23345726		2203	4300	6503	SO:0001583	missense			AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812	64412	64412		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	15808	protein-coding gene	gene with protein product		613842	zinc finger protein 336	ZNF336	NA	14522971, 16049025	Standard	NM_022482	NM_022482	NA	Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.706C>T	20.37:g.23345726C>T	ENSP00000338290:p.Pro236Ser	NA	A8K199|B2RBC3|B3KPL4|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	37	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450553	0.43531	.	.	ENSG00000125812	ENST00000338121;ENST00000377051	T;T	0.09538	2.97;2.97	4.02	4.02	0.46733	.	0.000000	0.56097	D	0.000024	T	0.20577	0.0495	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.04961	-1.0915	10	0.11182	T	0.66	.	15.6958	0.77494	0.0:1.0:0.0:0.0	.	236	Q9H116	GZF1_HUMAN	S	236	ENSP00000338290:P236S;ENSP00000366250:P236S	ENSP00000338290:P236S	P	+	1	0	GZF1	23293726	0.549000	0.26481	1.000000	0.80357	0.383000	0.30230	3.029000	0.49712	2.245000	0.73994	0.544000	0.68410	CCT	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078333.1		+	ENST00000338121.5	Missense_Mutation	SNP	20 : 23345726 - 23345726 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	55
KEL	3792	broad.mit.edu	37	7	142651023	142651023	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142651023G>A	ENST00000355265.2	-	9	1419	c.945C>T	c.(943-945)gaC>gaT	p.D315D	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	315					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AGGACAACCAGTCGATGGCGG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	95	97			NA	NA	7		NA											NA				142651023		2203	4300	6503	SO:0001819	synonymous_variant			BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993	3792	3792		CD molecules, Blood group antigens	6308	protein-coding gene	gene with protein product		613883	Kell blood group, Kell blood group, metalloendopeptidase		NA	1712490, 7683930	Standard	NM_000420	NM_000420	NA	Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.945C>T	7.37:g.142651023G>A		NA	B2RBV4|Q96RS8|Q99885	37	CCDS34766.1																																																																																			KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347671.2		-	ENST00000355265.2	Silent	SNP	7 : 142651023 - 142651023 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	646	61
KCNU1	157855	broad.mit.edu	37	8	36793196	36793196	+	Missense_Mutation	SNP	T	T	G	rs138865963	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:36793196T>G	ENST00000399881.3	+	27	3245	c.3208T>G	c.(3208-3210)Tca>Gca	p.S1070A		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1070						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AGAGACACATTCAGACACAAA	0.383		NA											T	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.9547	LOWCOV	NA	NA	4e-04	SNP								NA				0													141	138	139			NA	NA	8		NA											NA				36793196		1928	4144	6072	SO:0001583	missense			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262	157855	157855		Potassium channels, Voltage-gated ion channels / Potassium channels, calcium-activated	18867	protein-coding gene	gene with protein product		615215			NA	16382103	Standard	NM_001031836	NM_001031836	NA	Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.3208T>G	8.37:g.36793196T>G	ENSP00000382770:p.Ser1070Ala	NA		37	CCDS55220.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	7.024	0.559231	0.13436	.	.	ENSG00000215262	ENST00000399881	T	0.35605	1.3	4.96	-9.93	0.00452	.	.	.	.	.	T	0.18800	0.0451	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29397	-1.0013	9	0.62326	D	0.03	.	0.384	0.00399	0.3759:0.1556:0.229:0.2394	.	1070	A8MYU2	KCNU1_HUMAN	A	1070	ENSP00000382770:S1070A	ENSP00000382770:S1070A	S	+	1	0	KCNU1	36912354	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.320000	0.00513	-3.904000	0.00093	-1.119000	0.02030	TCA	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376631.1		+	ENST00000399881.3	Missense_Mutation	SNP	8 : 36793196 - 36793196 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	530	107
NUP85	79902	broad.mit.edu	37	17	73221213	73221213	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73221213C>A	ENST00000579298.1	+	8	639				NUP85_ENST00000579324.1_Missense_Mutation_p.L93M|NUP85_ENST00000245544.4_Missense_Mutation_p.L205M|NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000541827.1_Missense_Mutation_p.L159M|NUP85_ENST00000447371.2_Missense_Mutation_p.L37M			Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	NA					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CATCTTGGTGCTGCAGGGCCG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	43	42			NA	NA	17		NA											NA				73221213		2203	4300	6503	SO:0001627	intron_variant			AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450	79902	79902			8734	protein-coding gene	gene with protein product		170285			NA	8124707	Standard	NM_024844	XM_005257690	NA	Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000579298.1:c.598-224C>A	17.37:g.73221213C>A		NA	Q8NDI4|Q9H9U1	37		.	.	.	.	.	.	.	.	.	.	C	15.08	2.728647	0.48833	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000449421;ENST00000447371	.	.	.	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000001	T	0.73721	0.3623	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.74553	-0.3627	9	0.52906	T	0.07	-11.6694	18.4662	0.90755	0.0:1.0:0.0:0.0	.	205	Q9BW27	NUP85_HUMAN	M	205;159;159;37	.	ENSP00000245544:L205M	L	+	1	2	NUP85	70732808	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.489000	0.66875	2.588000	0.87417	0.650000	0.86243	CTG	NUP85-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000446625.1		+	ENST00000579298.1	Intron	SNP	17 : 73221213 - 73221213 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	362	84
ADAMTS14	140766	broad.mit.edu	37	10	72500759	72500759	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:72500759C>T	ENST00000373208.1	+	12	1774	c.1774C>T	c.(1774-1776)Cgc>Tgc	p.R592C	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.R589C	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	589	TSP type-1 1.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CTATGGAGGCCGCCTGTGCTT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	53	56			NA	NA	10		NA											NA				72500759		2203	4300	6503	SO:0001583	missense			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316	140766	140766		ADAM metallopeptidases with thrombospondin type 1 motif	14899	protein-coding gene	gene with protein product		607506	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14		NA	11779638	Standard	NM_080722	NM_139155	NA	Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373208.1:c.1774C>T	10.37:g.72500759C>T	ENSP00000362304:p.Arg592Cys	NA	Q5T4G0|Q8TE55|Q8TEY8	37	CCDS7307.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367801	0.82463	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.03860	3.78;3.78	5.27	5.27	0.74061	.	0.070614	0.56097	D	0.000035	T	0.26521	0.0648	M	0.90425	3.115	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.985;0.985	T	0.01848	-1.1261	10	0.87932	D	0	.	13.6385	0.62235	0.1547:0.8453:0.0:0.0	.	522;589;592	Q8WXS8-2;Q8WXS8;Q5T4G1	.;ATS14_HUMAN;.	C	592;589	ENSP00000362304:R592C;ENSP00000362303:R589C	ENSP00000362303:R589C	R	+	1	0	ADAMTS14	72170765	1.000000	0.71417	0.995000	0.50966	0.919000	0.55068	4.316000	0.59178	2.735000	0.93741	0.655000	0.94253	CGC	ADAMTS14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048521.1		+	ENST00000373208.1	Missense_Mutation	SNP	10 : 72500759 - 72500759 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	278	52
MKLN1	4289	broad.mit.edu	37	7	131151154	131151154	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131151154G>T	ENST00000352689.6	+	15	1948	c.1908G>T	c.(1906-1908)aaG>aaT	p.K636N	MKLN1_ENST00000498778.1_3'UTR|MKLN1_ENST00000421797.2_Missense_Mutation_p.K544N	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	636					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					GGCATTGCAAGTACCTCATAA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	91	91			NA	NA	7		NA											NA				131151154		2203	4300	6503	SO:0001583	missense			AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585	4289	4289			7109	protein-coding gene	gene with protein product		605623			NA	10640805	Standard	NM_013255	NM_001145354	NA	Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.1908G>T	7.37:g.131151154G>T	ENSP00000323527:p.Lys636Asn	NA	A4D1M8|A6NG43|Q9NSK4|Q9NUS8	37	CCDS34754.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068109	0.55539	.	.	ENSG00000128585	ENST00000421797;ENST00000352689;ENST00000388758	T;T	0.49139	1.79;0.79	5.8	3.81	0.43845	.	0.045341	0.85682	D	0.000000	T	0.52869	0.1761	M	0.71036	2.16	0.58432	D	0.999998	B;P;B;P	0.49090	0.399;0.624;0.314;0.919	B;B;B;P	0.51742	0.209;0.206;0.134;0.678	T	0.53027	-0.8496	10	0.59425	D	0.04	-15.6556	5.1238	0.14875	0.4208:0.0:0.5792:0.0	.	636;613;544;126	Q9UL63;B4DG30;C9J7E8;F8W7E8	MKLN1_HUMAN;.;.;.	N	544;636;126	ENSP00000398094:K544N;ENSP00000323527:K636N	ENSP00000323527:K636N	K	+	3	2	MKLN1	130801694	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.337000	0.59310	0.721000	0.32231	0.650000	0.86243	AAG	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337473.4		+	ENST00000352689.6	Missense_Mutation	SNP	7 : 131151154 - 131151154 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	367	61
CLK3	1198	broad.mit.edu	37	15	74911554	74911554	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74911554G>A	ENST00000395066.3	+	2	922	c.461G>A	c.(460-462)cGa>cAa	p.R154Q	CLK3_ENST00000345005.4_Missense_Mutation_p.R6Q|CLK3_ENST00000352989.5_Missense_Mutation_p.R6Q|CLK3_ENST00000348245.3_Missense_Mutation_p.R6Q	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	154						acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						CACTGTAAGCGATACCGCTCC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(133;694 1754 28950 29027 31859)							NA				0													184	174	177			NA	NA	15		NA											NA				74911554		2197	4296	6493	SO:0001583	missense			L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335	1198	1198		CDC-like kinases	2071	protein-coding gene	gene with protein product		602990			NA	7990150, 9856501	Standard		NM_003992	NA	Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.461G>A	15.37:g.74911554G>A	ENSP00000378505:p.Arg154Gln	NA	D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	37	CCDS45304.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924401	0.73213	.	.	ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830;ENST00000352989;ENST00000348245	T;T	0.55234	0.53;0.77	4.64	4.64	0.57946	.	0.000000	0.64402	D	0.000016	T	0.60248	0.2254	L	0.27053	0.805	0.42845	D	0.994061	D;D;D	0.89917	0.997;1.0;0.99	D;D;P	0.78314	0.968;0.991;0.776	T	0.64123	-0.6481	10	0.56958	D	0.05	.	15.4596	0.75342	0.0:0.0:1.0:0.0	.	154;154;6	P49761;B3KRI8;G5E959	CLK3_HUMAN;.;.	Q	6;6;154;6;6	ENSP00000344112:R6Q;ENSP00000323106:R6Q	ENSP00000344112:R6Q	R	+	2	0	CLK3	72698607	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.093000	0.64517	2.405000	0.81733	0.655000	0.94253	CGA	CLK3-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390442.3		+	ENST00000395066.3	Missense_Mutation	SNP	15 : 74911554 - 74911554 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1050	53
USP16	10600	broad.mit.edu	37	21	30419482	30419482	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30419482C>A	ENST00000334352.4	+	15	2082	c.1851C>A	c.(1849-1851)ttC>ttA	p.F617L	USP16_ENST00000399975.3_Missense_Mutation_p.F616L|USP16_ENST00000535828.1_Missense_Mutation_p.F246L|USP16_ENST00000399976.2_Missense_Mutation_p.F617L	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	617					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						AAACTGCTTTCTGTACTCTTG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(92;625 1444 27493 34101 44971)							NA				0													126	130	129			NA	NA	21		NA											NA				30419482		2203	4300	6503	SO:0001583	missense			AF126736	CCDS13583.1, CCDS42912.1	21q21	2008-04-11	2005-08-08		ENSG00000156256	ENSG00000156256	NA	10600		Ubiquitin-specific peptidases	12614	protein-coding gene	gene with protein product		604735	ubiquitin specific protease 16		NA	12838346	Standard		NM_006447	NA	Approved	Ubp-M	uc002ymy.3	Q9Y5T5	OTTHUMG00000078802	ENST00000334352.4:c.1851C>A	21.37:g.30419482C>A	ENSP00000334808:p.Phe617Leu	NA	A8MU43|B3KN13|B4DFV8|B4DY37|D3DSD9|Q53GP7|Q53HA0|Q5VKN8|Q8NEL3|Q9H3E6	37	CCDS13583.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892456	0.72524	.	.	ENSG00000156256	ENST00000399975;ENST00000399976;ENST00000334352;ENST00000535828	T;T;T;T	0.34072	3.3;3.3;3.3;1.38	4.99	3.03	0.35002	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.47710	0.1460	L	0.52011	1.625	0.58432	D	0.999996	D;D;P;P	0.71674	0.994;0.998;0.955;0.592	D;D;P;P	0.80764	0.968;0.994;0.882;0.849	T	0.44772	-0.9306	10	0.62326	D	0.03	.	6.6131	0.22763	0.0:0.6976:0.0:0.3024	.	246;602;616;617	B4DUS4;Q9Y5T5-3;Q9Y5T5-2;Q9Y5T5	.;.;.;UBP16_HUMAN	L	616;617;617;246	ENSP00000382857:F616L;ENSP00000382858:F617L;ENSP00000334808:F617L;ENSP00000442855:F246L	ENSP00000334808:F617L	F	+	3	2	USP16	29341353	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.598000	0.36740	1.346000	0.45694	0.591000	0.81541	TTC	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000171847.1		+	ENST00000334352.4	Missense_Mutation	SNP	21 : 30419482 - 30419482 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	735	86
PCDHGA9	56107	broad.mit.edu	37	5	140783171	140783171	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140783171G>A	ENST00000573521.1	+	1	652	c.652G>A	c.(652-654)Ggc>Agc	p.G218S	PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1			protocadherin gamma subfamily A, 9	NA										endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGGATGGCGGCGAGCCGCG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	31	29			NA	NA	5		NA											NA				140783171		2045	4182	6227	SO:0001583	missense			AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26					56107	56107		Cadherins / Protocadherins : Clustered	8707	other	protocadherin		606296			NA	10380929	Standard	NM_018921	NM_018921	NA	Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.652G>A	5.37:g.140783171G>A	ENSP00000460274:p.Gly218Ser	NA		37	CCDS58981.1																																																																																			PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437105.1		+	ENST00000573521.1	Missense_Mutation	SNP	5 : 140783171 - 140783171 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	55
NIPSNAP3B	55335	broad.mit.edu	37	9	107528697	107528697	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107528697C>T	ENST00000374762.3	+	2	223	c.152C>T	c.(151-153)gCg>gTg	p.A51V	NIPSNAP3B_ENST00000461177.1_Intron	NM_018376.2	NP_060846.2	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B (C. elegans)	51										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						AATATGAATGCGTTCATGGAA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	135	135			NA	NA	9		NA											NA				107528697		2203	4300	6503	SO:0001583	missense			BC017914	CCDS6761.1	9q31.3	2003-11-27			ENSG00000165028	ENSG00000165028	55335	55335			23641	protein-coding gene	gene with protein product		608872			NA	12477932	Standard	NM_018376	NM_018376	NA	Approved	FLJ11275	uc004bci.3	Q9BS92	OTTHUMG00000020414	ENST00000374762.3:c.152C>T	9.37:g.107528697C>T	ENSP00000363894:p.Ala51Val	NA	Q5VX30|Q9NUM2	37	CCDS6761.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.541424	0.27563	.	.	ENSG00000165028	ENST00000374762	T	0.49139	0.79	3.93	-0.174	0.13319	Dimeric alpha-beta barrel (1);	0.311612	0.33591	N	0.004758	T	0.35913	0.0948	L	0.46157	1.445	0.29368	N	0.864236	P	0.35348	0.496	B	0.31390	0.129	T	0.30909	-0.9962	10	0.56958	D	0.05	-6.9514	11.2204	0.48851	0.527:0.473:0.0:0.0	.	51	Q9BS92	NPS3B_HUMAN	V	51	ENSP00000363894:A51V	ENSP00000363894:A51V	A	+	2	0	NIPSNAP3B	106568518	1.000000	0.71417	0.836000	0.33094	0.307000	0.27823	2.743000	0.47442	-0.130000	0.11599	-0.271000	0.10264	GCG	NIPSNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053486.1		+	ENST00000374762.3	Missense_Mutation	SNP	9 : 107528697 - 107528697 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	614	98
RBP2	5948	broad.mit.edu	37	3	139195235	139195235	+	Missense_Mutation	SNP	C	C	T	rs147339826		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:139195235C>T	ENST00000232217.2	-	1	123	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	RP11-319G6.1_ENST00000515247.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular	23					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity	p.A23S(1)		breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	TTACCCAGGGCCTTCATGTAG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											230	186	201			NA	NA	3		NA											NA				139195235		2203	4300	6503	SO:0001583	missense			U13831	CCDS3109.1	3q23	2013-03-01	2001-11-28		ENSG00000114113	ENSG00000114113	5948	5948		Fatty acid binding protein family	9920	protein-coding gene	gene with protein product		180280	retinol-binding protein 2, cellular		NA	7657783, 10072590	Standard	NM_004164	NM_004164	NA	Approved	CRBP2, RBPC2, CRBPII, CRABP-II	uc003eth.3	P50120	OTTHUMG00000159956	ENST00000232217.2:c.67G>A	3.37:g.139195235C>T	ENSP00000232217:p.Ala23Thr	NA	A8K7G3|Q6ISQ9|Q6ISS7	37	CCDS3109.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212263	0.79240	.	.	ENSG00000114113	ENST00000232217;ENST00000511956;ENST00000506825	T;T	0.08984	3.03;3.03	5.34	5.34	0.76211	Calycin-like (1);Cytosolic fatty-acid binding (2);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.100250	0.64402	D	0.000002	T	0.23249	0.0562	M	0.65498	2.005	0.80722	D	1	D	0.64830	0.994	P	0.56916	0.809	T	0.00121	-1.2029	10	0.72032	D	0.01	.	16.5562	0.84485	0.0:1.0:0.0:0.0	.	23	P50120	RET2_HUMAN	T	23	ENSP00000232217:A23T;ENSP00000424333:A23T	ENSP00000232217:A23T	A	-	1	0	RBP2	140677925	1.000000	0.71417	0.999000	0.59377	0.429000	0.31625	5.020000	0.64066	2.659000	0.90383	0.563000	0.77884	GCC	RBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358490.1		-	ENST00000232217.2	Missense_Mutation	SNP	3 : 139195235 - 139195235 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	364	76
SLC6A5	9152	broad.mit.edu	37	11	20652292	20652292	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20652292G>A	ENST00000525748.1	+	10	1828	c.1555G>A	c.(1555-1557)Gtc>Atc	p.V519I	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	519					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.V519I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TGCCGGCTTCGTCATCTTCTC	0.498		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)											203	171	182			NA	NA	11		NA											NA				20652292		2203	4300	6503	SO:0001583	missense			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970	9152	9152		Solute carriers	11051	protein-coding gene	gene with protein product	glycine transporter 2	604159	solute carrier family 6 (neurotransmitter transporter, glycine), member 5	NET1	NA	9845349	Standard	NM_004211	NM_004211	NA	Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1555G>A	11.37:g.20652292G>A	ENSP00000434364:p.Val519Ile	NA	O95288|Q4VAM7|Q9BX77	37	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.930191	0.92389	.	.	ENSG00000165970	ENST00000525748	T	0.75589	-0.95	5.57	5.57	0.84162	.	0.053759	0.85682	D	0.000000	D	0.82912	0.5140	L	0.52266	1.64	0.80722	D	1	D	0.69078	0.997	D	0.63488	0.915	D	0.83931	0.0306	10	0.72032	D	0.01	.	19.54	0.95270	0.0:0.0:1.0:0.0	.	519	Q9Y345	SC6A5_HUMAN	I	519	ENSP00000434364:V519I	ENSP00000434364:V519I	V	+	1	0	SLC6A5	20608868	1.000000	0.71417	0.978000	0.43139	0.653000	0.38743	9.869000	0.99810	2.618000	0.88619	0.655000	0.94253	GTC	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387497.2		+	ENST00000525748.1	Missense_Mutation	SNP	11 : 20652292 - 20652292 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	601	118
SEMA3F	6405	broad.mit.edu	37	3	50222947	50222947	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50222947G>A	ENST00000002829.3	+	14	2012	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	SEMA3F_ENST00000434342.1_Missense_Mutation_p.E479K|SEMA3F_ENST00000413852.1_Missense_Mutation_p.E411K	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	510	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CATGCTGGAGGAGGTGGAGGT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	104	112			NA	NA	3		NA											NA				50222947		2203	4300	6503	SO:0001583	missense			U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617	6405	6405		Semaphorins, Immunoglobulin superfamily / Immunoglobulin-like domain containing	10728	protein-coding gene	gene with protein product	sema IV	601124			NA	8786119, 8649831	Standard	NM_004186	NM_004186	NA	Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.1528G>A	3.37:g.50222947G>A	ENSP00000002829:p.Glu510Lys	NA	Q13274|Q13372|Q15704|Q6GTR4	37	CCDS2811.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213343	0.79352	.	.	ENSG00000001617	ENST00000413852;ENST00000002829;ENST00000434342	T;T;T	0.29917	1.55;1.55;1.55	4.92	4.92	0.64577	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.043661	0.85682	D	0.000000	T	0.51193	0.1660	H	0.96547	3.84	0.58432	D	0.999998	P;B	0.36660	0.564;0.148	B;B	0.35688	0.208;0.133	T	0.68051	-0.5511	10	0.87932	D	0	.	17.0521	0.86521	0.0:0.0:1.0:0.0	.	479;510	C9JQ85;Q13275	.;SEM3F_HUMAN	K	411;510;479	ENSP00000388931:E411K;ENSP00000002829:E510K;ENSP00000409859:E479K	ENSP00000002829:E510K	E	+	1	0	SEMA3F	50197951	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	9.395000	0.97266	2.575000	0.86900	0.448000	0.29417	GAG	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345929.1		+	ENST00000002829.3	Missense_Mutation	SNP	3 : 50222947 - 50222947 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	171	31
AOC1	26	broad.mit.edu	37	7	150554915	150554915	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150554915C>T	ENST00000493429.1	+	4	1941	c.1357C>T	c.(1357-1359)Cgg>Tgg	p.R453W	AOC1_ENST00000360937.4_Missense_Mutation_p.R453W|AOC1_ENST00000416793.2_Missense_Mutation_p.R453W|AOC1_ENST00000467291.1_Missense_Mutation_p.R453W					amine oxidase, copper containing 1	NA											NA						GCTGGTGCTGCGGACAACTTC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	73	71			NA	NA	7		NA											NA				150554915		2035	4189	6224	SO:0001583	missense			AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	26	26	1.4.3.22		80	protein-coding gene	gene with protein product	diamine oxidase	104610	amiloride binding protein 1 (amine oxidase (copper-containing))	ABP1	NA	8182053	Standard	NM_001091	NM_001091	NA	Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1357C>T	7.37:g.150554915C>T	ENSP00000418614:p.Arg453Trp	NA		37	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939726	0.52972	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000416793;ENST00000437714	T;T;T;T	0.05382	3.45;3.45;3.45;3.45	4.96	4.06	0.47325	Copper amine oxidase, C-terminal (3);	0.082441	0.64402	D	0.000020	T	0.31544	0.0800	M	0.93507	3.425	0.53688	D	0.999977	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.29243	-1.0018	10	0.87932	D	0	-14.8057	10.5331	0.44988	0.3708:0.6292:0.0:0.0	.	453;453	C9J690;P19801	.;ABP1_HUMAN	W	453;453;453;453;329	ENSP00000418614:R453W;ENSP00000418328:R453W;ENSP00000354193:R453W;ENSP00000411613:R453W	ENSP00000354193:R453W	R	+	1	2	ABP1	150185848	0.272000	0.24172	0.975000	0.42487	0.875000	0.50365	0.725000	0.25970	1.419000	0.47118	0.561000	0.74099	CGG	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350628.1		+	ENST00000493429.1	Missense_Mutation	SNP	7 : 150554915 - 150554915 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	335	62
FAM78A	286336	broad.mit.edu	37	9	134151457	134151457	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134151457C>T	ENST00000372271.3	-	1	477	c.110G>A	c.(109-111)gGg>gAg	p.G37E		NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	37										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		CACCGTGATCCCTTCCCGGAA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	80	85			NA	NA	9		NA											NA				134151457		2203	4300	6503	SO:0001583	missense			AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882	286336	286336			25465	protein-coding gene	gene with protein product			chromosome 9 open reading frame 59	C9orf59	NA	11214971	Standard	NM_033387	NM_033387	NA	Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.110G>A	9.37:g.134151457C>T	ENSP00000361345:p.Gly37Glu	NA	Q86VQ9|Q9H7P4	37	CCDS6941.2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403374	0.83230	.	.	ENSG00000126882	ENST00000372271	.	.	.	4.88	4.88	0.63580	.	0.137041	0.64402	D	0.000004	T	0.34803	0.0910	N	0.08118	0	0.37486	D	0.916183	B	0.25904	0.137	B	0.31191	0.125	T	0.38045	-0.9679	9	0.41790	T	0.15	-26.0808	13.1809	0.59653	0.0:0.8399:0.1601:0.0	.	37	Q5JUQ0	FA78A_HUMAN	E	37	.	ENSP00000361345:G37E	G	-	2	0	FAM78A	133141278	0.992000	0.36948	0.998000	0.56505	0.995000	0.86356	2.985000	0.49362	2.422000	0.82143	0.561000	0.74099	GGG	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054720.1		-	ENST00000372271.3	Missense_Mutation	SNP	9 : 134151457 - 134151457 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	224	41
UXS1	80146	broad.mit.edu	37	2	106781241	106781241	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106781241C>A	ENST00000283148.7	-	3	234	c.137G>T	c.(136-138)aGg>aTg	p.R46M	UXS1_ENST00000409501.3_Splice_Site|UXS1_ENST00000540130.1_Intron|UXS1_ENST00000428048.2_Intron	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	41					cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						CTGGATAGACCTGTTGAGTAG	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	74	75			NA	NA	2		NA											NA				106781241		1836	4072	5908	SO:0001583	missense			AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	80146	80146	4.1.1.35	Short chain dehydrogenase/reductase superfamily / Extended SDR fold	17729	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 6E, member 12	609749			NA	19027726	Standard	NM_025076.3	NM_001253875	NA	Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000283148.7:c.137G>T	2.37:g.106781241C>A	ENSP00000283148:p.Arg46Met	NA	Q8NBX3|Q9H5C2	37	CCDS58721.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.74|19.74	3.883523|3.883523	0.72410|0.72410	.|.	.|.	ENSG00000115652|ENSG00000115652	ENST00000409501|ENST00000283148	.|D	.|0.96396	.|-4.0	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.94941	.|0.8364	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|P	.|0.36315	.|0.547	.|B	.|0.37346	.|0.247	.|D	.|0.94890	.|0.8047	.|9	.|0.62326	.|D	.|0.03	.|-12.3826	16.61|16.61	0.84880|0.84880	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|46	.|Q8NBZ7-2	.|.	.|M	-1|46	.|ENSP00000283148:R46M	.|ENSP00000283148:R46M	.|R	-|-	.|2	.|0	UXS1|UXS1	106147673|106147673	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.292000|5.292000	0.65673|0.65673	2.721000|2.721000	0.93114|0.93114	0.655000|0.655000	0.94253|0.94253	.|AGG	UXS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329776.1		-	ENST00000283148.7	Missense_Mutation	SNP	2 : 106781241 - 106781241 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	44	11
CCIN	881	broad.mit.edu	37	9	36169888	36169888	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36169888G>A	ENST00000335119.2	+	1	500	c.389G>A	c.(388-390)cGt>cAt	p.R130H		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	130					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			TCCATCTGCCGTGCCAACTGC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	120	125			NA	NA	9		NA											NA				36169888		2203	4300	6503	SO:0001583	missense			Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972	881	881		BTB/POZ domain containing	1568	protein-coding gene	gene with protein product		603960			NA	7641791	Standard	NM_005893	NM_005893	NA	Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.389G>A	9.37:g.36169888G>A	ENSP00000334996:p.Arg130His	NA	Q9BXG7	37	CCDS6599.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.393719	0.25205	.	.	ENSG00000185972	ENST00000335119	T	0.65178	-0.14	5.54	4.63	0.57726	.	0.253147	0.25987	N	0.027031	T	0.53142	0.1778	N	0.25647	0.755	0.31130	N	0.707876	D	0.61080	0.989	P	0.48488	0.579	T	0.60449	-0.7261	10	0.62326	D	0.03	.	9.6298	0.39772	0.0937:0.0:0.9063:0.0	.	130	Q13939	CALI_HUMAN	H	130	ENSP00000334996:R130H	ENSP00000334996:R130H	R	+	2	0	CCIN	36159888	0.073000	0.21202	0.988000	0.46212	0.978000	0.69477	1.988000	0.40697	2.770000	0.95276	0.563000	0.77884	CGT	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052418.1		+	ENST00000335119.2	Missense_Mutation	SNP	9 : 36169888 - 36169888 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	600	92
LRRC14	9684	broad.mit.edu	37	8	145745828	145745828	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145745828C>T	ENST00000292524.1	+	3	682	c.536C>T	c.(535-537)gCg>gTg	p.A179V	LRRC14_ENST00000529022.1_Missense_Mutation_p.A179V	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	179										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCCTCCTATGCGTTCCTGCGG	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	50	48			NA	NA	8		NA											NA				145745828		2203	4297	6500	SO:0001583	missense			BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959	9684	9684			20419	protein-coding gene	gene with protein product					NA	7584026	Standard	NM_014665	NM_001272036	NA	Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.536C>T	8.37:g.145745828C>T	ENSP00000292524:p.Ala179Val	NA	A8K0A8|D3DWM8	37	CCDS6432.1	.	.	.	.	.	.	.	.	.	.	C	7.098	0.573505	0.13623	.	.	ENSG00000160959	ENST00000527730;ENST00000529022;ENST00000292524	T;T;T	0.18016	2.24;5.04;5.04	4.27	2.36	0.29203	.	0.568408	0.17745	N	0.163439	T	0.09818	0.0241	N	0.20986	0.625	0.09310	N	1	B	0.18863	0.031	B	0.15870	0.014	T	0.16100	-1.0414	10	0.32370	T	0.25	.	6.8223	0.23864	0.1783:0.4989:0.3228:0.0	.	179	Q15048	LRC14_HUMAN	V	179	ENSP00000436452:A179V;ENSP00000434768:A179V;ENSP00000292524:A179V	ENSP00000292524:A179V	A	+	2	0	LRRC14	145716636	0.000000	0.05858	0.007000	0.13788	0.100000	0.18952	0.728000	0.26013	2.219000	0.72066	0.462000	0.41574	GCG	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382494.1		+	ENST00000292524.1	Missense_Mutation	SNP	8 : 145745828 - 145745828 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	623	97
CDH17	1015	broad.mit.edu	37	8	95182635	95182635	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95182635A>G	ENST00000027335.3	-	9	1180	c.1056T>C	c.(1054-1056)aaT>aaC	p.N352N	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Silent_p.N352N	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	352	Cadherin 4.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CCAGTCGTTCATTCTCCTGGA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	140	145			NA	NA	8		NA											NA				95182635		2203	4300	6503	SO:0001819	synonymous_variant			X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112	1015	1015		Cadherins / Major cadherins	1756	protein-coding gene	gene with protein product		603017			NA	9615235, 10191097	Standard	NM_004063	NM_004063	NA	Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.1056T>C	8.37:g.95182635A>G		NA	Q15336|Q2M2E0	37	CCDS6260.1																																																																																			CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378560.1		-	ENST00000027335.3	Silent	SNP	8 : 95182635 - 95182635 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	793	148
TTC30B	150737	broad.mit.edu	37	2	178415760	178415760	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178415760G>A	ENST00000408939.3	-	1	1982	c.1732C>T	c.(1732-1734)Ctg>Ttg	p.L578L		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	NA					cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			TCTGTTCCCAGCTTTTTGTTG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	160	158			NA	NA	2		NA											NA				178415760		2203	4300	6503	SO:0001819	synonymous_variant			AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659	150737	150737		Tetratricopeptide (TTC) repeat domain containing, Intraflagellar transport homologs	26425	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152517	NM_152517	NA	Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.1732C>T	2.37:g.178415760G>A		NA	Q63HQ1|Q96NE6	37	CCDS42784.1																																																																																			TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334193.2		-	ENST00000408939.3	Silent	SNP	2 : 178415760 - 178415760 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	941	304
KREMEN1	83999	broad.mit.edu	37	22	29533635	29533635	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29533635G>A	ENST00000400338.2	+	6	990	c.937G>A	c.(937-939)Gcc>Acc	p.A313T	KREMEN1_ENST00000327813.5_Missense_Mutation_p.A313T|KREMEN1_ENST00000407188.1_Missense_Mutation_p.A311T|KREMEN1_ENST00000400335.4_Missense_Mutation_p.A313T			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	311	CUB.				cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						CATCAATCAGGCCCAGGGATT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	66	67			NA	NA	22		NA											NA				29533635		1948	4138	6086	SO:0001583	missense			AB059618	CCDS43000.1, CCDS13849.1, CCDS43000.2	22q12.1	2008-03-27	2002-11-13	2002-11-15	ENSG00000183762	ENSG00000183762	NA	83999			17550	protein-coding gene	gene with protein product		609898	kringle containing transmembrane protein	KREMEN	NA	11267660	Standard		NM_001039570	NA	Approved	KRM1	uc011akm.1	Q96MU8	OTTHUMG00000030987	ENST00000400338.2:c.937G>A	22.37:g.29533635G>A	ENSP00000383192:p.Ala313Thr	NA	B0QY46|B0QY47|B1AJR5|Q5TIB9|Q6P3X6|Q9BY70|Q9UGS5|Q9UGU1	37		.	.	.	.	.	.	.	.	.	.	G	31	5.079085	0.94050	.	.	ENSG00000183762	ENST00000400335;ENST00000400338;ENST00000327813;ENST00000407188	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	4.99	4.99	0.66335	CUB (5);	0.000000	0.64402	D	0.000009	T	0.45617	0.1351	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.996	D;D;D	0.87578	0.997;0.998;0.993	T	0.38950	-0.9637	10	0.59425	D	0.04	.	16.1477	0.81583	0.0:0.0:1.0:0.0	.	311;313;313	Q96MU8;Q96MU8-2;Q96MU8-3	KREM1_HUMAN;.;.	T	313;313;313;311	ENSP00000383189:A313T;ENSP00000383192:A313T;ENSP00000331242:A313T;ENSP00000385431:A311T	ENSP00000331242:A313T	A	+	1	0	KREMEN1	27863635	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.417000	0.97391	2.507000	0.84556	0.467000	0.42956	GCC	KREMEN1-201	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000320947.1		+	ENST00000400338.2	Missense_Mutation	SNP	22 : 29533635 - 29533635 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	231	39
RRAGD	58528	broad.mit.edu	37	6	90097100	90097100	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90097100C>A	ENST00000369415.4	-	2	634	c.358G>T	c.(358-360)Gga>Tga	p.G120*	RRAGD_ENST00000492783.1_5'UTR|RRAGD_ENST00000359203.3_Intron	NM_021244.4	NP_067067.1	Q9NQL2	RRAGD_HUMAN	Ras-related GTP binding D	120					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		TCAATCTGTCCTGGGAAGTCC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	140	138			NA	NA	6		NA											NA				90097100		2203	4300	6503	SO:0001587	stop_gained			AF272036	CCDS5022.1	6q15-q16	2008-02-05			ENSG00000025039	ENSG00000025039	58528	58528			19903	protein-coding gene	gene with protein product		608268			NA	11073942	Standard	NM_021244	NM_021244	NA	Approved	DKFZP761H171, bA11D8.2.1	uc003pnd.4	Q9NQL2	OTTHUMG00000015200	ENST00000369415.4:c.358G>T	6.37:g.90097100C>A	ENSP00000358423:p.Gly120*	NA	A8K184|Q7L8F9|Q9NPG0	37	CCDS5022.1	.	.	.	.	.	.	.	.	.	.	C	39	7.577906	0.98368	.	.	ENSG00000025039	ENST00000369415	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.4848	19.3349	0.94312	0.0:1.0:0.0:0.0	.	.	.	.	X	120	.	ENSP00000358423:G120X	G	-	1	0	RRAGD	90153819	1.000000	0.71417	0.989000	0.46669	0.989000	0.77384	7.487000	0.81328	2.583000	0.87209	0.655000	0.94253	GGA	RRAGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041484.1		-	ENST00000369415.4	Nonsense_Mutation	SNP	6 : 90097100 - 90097100 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	927	166
STIL	6491	broad.mit.edu	37	1	47746463	47746463	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47746463G>T	ENST00000360380.3	-	13	2030	c.1667C>A	c.(1666-1668)tCc>tAc	p.S556Y	STIL_ENST00000337817.5_Missense_Mutation_p.S556Y|STIL_ENST00000371877.3_Missense_Mutation_p.S556Y|STIL_ENST00000396221.2_Missense_Mutation_p.S556Y|STIL_ENST00000243182.6_Missense_Mutation_p.S556Y	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	556					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				ATTAAGTGTGGAGGGTCTTAT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	145	141			NA	NA	1		NA											NA				47746463		2203	4300	6503	SO:0001583	missense			M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473	6491	6491			10879	protein-coding gene	gene with protein product		181590	TAL1 (SCL) interrupting locus	SIL	NA	2209547	Standard	NM_003035	NM_003035	NA	Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.1667C>A	1.37:g.47746463G>T	ENSP00000353544:p.Ser556Tyr	NA	Q5T0C5|Q68CN9	37	CCDS548.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642910	0.47153	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475	T;T;T;T;T;T	0.53423	1.98;1.98;1.99;1.97;1.98;0.62	5.1	4.18	0.49190	.	0.275883	0.35838	N	0.002956	T	0.52757	0.1754	L	0.32530	0.975	0.20196	N	0.999925	D;D;D;D;D	0.89917	0.993;1.0;0.999;0.993;0.993	P;D;D;P;P	0.66497	0.804;0.944;0.912;0.804;0.804	T	0.40869	-0.9540	10	0.62326	D	0.03	-8.4972	10.424	0.44367	0.1501:0.0:0.8499:0.0	.	556;509;556;556;556	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468	.;.;.;.;STIL_HUMAN	Y	556;556;556;556;556;509	ENSP00000353544:S556Y;ENSP00000337367:S556Y;ENSP00000360944:S556Y;ENSP00000379523:S556Y;ENSP00000243182:S556Y;ENSP00000411664:S509Y	ENSP00000243182:S556Y	S	-	2	0	STIL	47519050	0.997000	0.39634	0.536000	0.28039	0.760000	0.43138	3.054000	0.49908	2.383000	0.81215	0.655000	0.94253	TCC	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021649.2		-	ENST00000360380.3	Missense_Mutation	SNP	1 : 47746463 - 47746463 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	767	175
LRMP	4033	broad.mit.edu	37	12	25232195	25232195	+	Silent	SNP	C	C	T	rs114104872	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25232195C>T	ENST00000354454.3	+	6	871	c.42C>T	c.(40-42)cgC>cgT	p.R14R	LRMP_ENST00000547044.1_Silent_p.R14R|LRMP_ENST00000548766.1_Silent_p.R14R	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	70					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					GTGTTGAACGCGTGTGTCCTG	0.373		NA											C	3	0.0014	NA	NA	2184	0.01	1	,	,	NA	3e-04	NA	NA	NA	0.0014	1	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0								C	,,	1,4405	2.1+/-5.4	0,1,2202	288	260	270		42,42,42	0.8	0	12	dbSNP_132	270	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	LRMP	NM_001204126.1,NM_001204127.1,NM_006152.3	,,	0,2,6501	TT,TC,CC	NA	0.0116,0.0227,0.0154	,,	14/500,14/500,14/500	25232195	2,13004	2203	4300	6503	SO:0001819	synonymous_variant				CCDS8701.1	12p12.1	2012-05-16			ENSG00000118308	ENSG00000118308	4033	4033			6690	protein-coding gene	gene with protein product		602003			NA	8021504	Standard	NM_006152	NM_006152	NA	Approved	JAW1	uc010sja.2	Q12912	OTTHUMG00000170192	ENST00000354454.3:c.42C>T	12.37:g.25232195C>T		NA	A0AVM2|B4E077|Q8N301	37	CCDS8701.1																																																																																			LRMP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407870.1		+	ENST00000354454.3	Silent	SNP	12 : 25232195 - 25232195 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	859	139
HOXA4	3201	broad.mit.edu	37	7	27170305	27170305	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27170305C>T	ENST00000360046.5	-	1	113	c.48G>A	c.(46-48)aaG>aaA	p.K16K	RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS2_ENST00000521159.1_RNA|HOXA4_ENST00000428284.2_Silent_p.K16K|HOXA3_ENST00000521401.1_Intron	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	16	Pro-rich (part of the transcriptional activation domain).					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						AGGGAGGGAACTTGGGCTCGA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	16	16			NA	NA	7		NA											NA				27170305		2202	4298	6500	SO:0001819	synonymous_variant				CCDS5405.1	7p15.2	2011-06-20	2005-12-22		ENSG00000197576	ENSG00000197576	3201	3201		Homeoboxes / ANTP class : HOXL subclass	5105	protein-coding gene	gene with protein product		142953	homeo box A4	HOX1D, HOX1	NA	1973146, 1358459	Standard		NM_002141	NA	Approved		uc003sym.4	Q00056	OTTHUMG00000023213	ENST00000360046.5:c.48G>A	7.37:g.27170305C>T		NA	A4D180|O43366	37	CCDS5405.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.254503	0.59212	.	.	ENSG00000197576	ENST00000548581	.	.	.	4.32	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.9748	0.19373	0.0:0.7431:0.0:0.2569	.	.	.	.	.	-1	.	.	.	-	.	.	HOXA4	27136830	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.613000	0.24299	2.115000	0.64714	0.650000	0.86243	.	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059534.4		-	ENST00000360046.5	Silent	SNP	7 : 27170305 - 27170305 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	118	23
DNMT3A	1788	broad.mit.edu	37	2	25462038	25462038	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25462038C>A	ENST00000264709.3	-	20	2706	c.2369G>T	c.(2368-2370)aGg>aTg	p.R790M	DNMT3A_ENST00000380746.4_Missense_Mutation_p.R601M|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R567M|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R790M	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	790					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTAGCGGGCCCTGTGTGCAGC	0.562		NA	Mis, F, N, S		AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0													69	62	64			NA	NA	2		NA											NA				25462038		2203	4300	6503	SO:0001583	missense				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772	1788	1788			2978	protein-coding gene	gene with protein product		602769			NA	9662389, 10433969	Standard	NM_022552	NM_175630	NA	Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2369G>T	2.37:g.25462038C>A	ENSP00000264709:p.Arg790Met	NA	Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	37	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	32	5.187538	0.94923	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.99824	-6.96;-6.96;-6.96;-6.96	5.64	5.64	0.86602	.	0.084554	0.85682	D	0.000000	D	0.99846	0.9929	M	0.88181	2.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.96883	0.9647	10	0.87932	D	0	-14.0906	17.206	0.86918	0.0:1.0:0.0:0.0	.	790;601	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	M	601;790;790;567	ENSP00000370122:R601M;ENSP00000324375:R790M;ENSP00000264709:R790M;ENSP00000384237:R567M	ENSP00000264709:R790M	R	-	2	0	DNMT3A	25315542	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.681000	0.91329	0.561000	0.74099	AGG	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000211587.1		-	ENST00000264709.3	Missense_Mutation	SNP	2 : 25462038 - 25462038 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	210	39
PGM3	5238	broad.mit.edu	37	6	83885690	83885690	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83885690C>T	ENST00000283977.4	-	8	1002	c.876G>A	c.(874-876)ggG>ggA	p.G292G	PGM3_ENST00000506587.1_Silent_p.G401G|PGM3_ENST00000512866.1_Silent_p.G373G|PGM3_ENST00000513973.1_Silent_p.G373G			O95394	AGM1_HUMAN	phosphoglucomutase 3	373					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		CAGTGCCATGCCCATTTGCTT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	117	121			NA	NA	6		NA											NA				83885690		2203	4300	6503	SO:0001819	synonymous_variant			BC001258	CCDS4997.1, CCDS56435.1, CCDS56436.1, CCDS75487.1	6q14.1-q15	2012-10-02			ENSG00000013375	ENSG00000013375	5238	5238	5.4.2.3		8907	protein-coding gene	gene with protein product	acetylglucosamine phosphomutase	172100			NA	12174217, 10721701	Standard	NM_015599	NM_001199917	NA	Approved	AGM1, DKFZP434B187, PAGM	uc011dyz.2	O95394	OTTHUMG00000015110	ENST00000283977.4:c.876G>A	6.37:g.83885690C>T		NA	B2RB65|E1P547|Q5JWR4|Q96J46|Q9H8G5|Q9NS94|Q9NTT6|Q9UFV5|Q9UIY2	37																																																																																				PGM3-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000366385.2		-	ENST00000283977.4	Silent	SNP	6 : 83885690 - 83885690 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	54
DCBLD2	131566	broad.mit.edu	37	3	98568340	98568340	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98568340C>A	ENST00000326840.6	-	3	898	c.536G>T	c.(535-537)gGa>gTa	p.G179V	DCBLD2_ENST00000469648.1_5'UTR|DCBLD2_ENST00000326857.9_Missense_Mutation_p.G179V	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	179	CUB.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GGCCAAAAATCCGCGTCCAGA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	120	122			NA	NA	3		NA											NA				98568340		1866	4097	5963	SO:0001583	missense				CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019	131566	131566			24627	protein-coding gene	gene with protein product		608698			NA	11447234	Standard	NM_080927	NM_080927	NA	Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.536G>T	3.37:g.98568340C>A	ENSP00000321573:p.Gly179Val	NA	B7WNL1|D3DN41|Q8N6M4|Q8TDX2	37	CCDS46878.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386978	0.82902	.	.	ENSG00000057019	ENST00000326840;ENST00000404023;ENST00000326857;ENST00000449482	T;T;T	0.35789	1.29;1.29;1.29	5.62	5.62	0.85841	CUB (5);	0.102412	0.64402	D	0.000002	T	0.78104	0.4231	H	0.99379	4.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87734	0.2581	10	0.87932	D	0	-19.3988	17.1542	0.86785	0.0:1.0:0.0:0.0	.	179;179	Q96PD2-2;Q96PD2	.;DCBD2_HUMAN	V	179;133;179;73	ENSP00000321573:G179V;ENSP00000321646:G179V;ENSP00000396803:G73V	ENSP00000321573:G179V	G	-	2	0	DCBLD2	100051030	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.231000	0.65327	2.648000	0.89879	0.655000	0.94253	GGA	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324675.2		-	ENST00000326840.6	Missense_Mutation	SNP	3 : 98568340 - 98568340 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	352	60
CCDC84	338657	broad.mit.edu	37	11	118881506	118881506	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118881506C>T	ENST00000334418.1	+	4	472	c.416C>T	c.(415-417)tCc>tTc	p.S139F	CCDC84_ENST00000580556.1_3'UTR	NM_198489.1	NP_940891.1	Q86UT8	CCD84_HUMAN	coiled-coil domain containing 84	139										breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		GGTTTGGATTCCTATGAAGAA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	94	94			NA	NA	11		NA											NA				118881506		2200	4295	6495	SO:0001583	missense			AB094093	CCDS8405.1	11q23.3	2006-03-13			ENSG00000186166	ENSG00000186166	338657	338657			30460	protein-coding gene	gene with protein product					NA		Standard	NM_198489	NM_198489	NA	Approved	DLNB14	uc001pul.3	Q86UT8	OTTHUMG00000166348	ENST00000334418.1:c.416C>T	11.37:g.118881506C>T	ENSP00000334767:p.Ser139Phe	NA		37	CCDS8405.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022775	0.75275	.	.	ENSG00000186166	ENST00000334418	T	0.45668	0.89	5.47	5.47	0.80525	.	0.438718	0.25419	N	0.030807	T	0.46464	0.1394	L	0.44542	1.39	0.33287	D	0.563067	P	0.39883	0.693	P	0.46975	0.533	T	0.60994	-0.7152	10	0.62326	D	0.03	-13.1838	14.8245	0.70101	0.0:1.0:0.0:0.0	.	139	Q86UT8	CCD84_HUMAN	F	139	ENSP00000334767:S139F	ENSP00000334767:S139F	S	+	2	0	CCDC84	118386716	0.978000	0.34361	1.000000	0.80357	0.924000	0.55760	1.030000	0.30153	2.573000	0.86826	0.563000	0.77884	TCC	CCDC84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389315.1		+	ENST00000334418.1	Missense_Mutation	SNP	11 : 118881506 - 118881506 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	314	43
OR52A5	390054	broad.mit.edu	37	11	5153029	5153029	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5153029G>A	ENST00000307388.1	-	1	843	c.844C>T	c.(844-846)Ctt>Ttt	p.L282F		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AACAGGTAAAGATTTGACAAG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	144	146			NA	NA	11		NA											NA				5153029		2201	4298	6499	SO:0001583	missense			BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944	390054	390054		GPCR / Class A : Olfactory receptors	19580	protein-coding gene	gene with protein product					NA		Standard	NM_001005160	NM_001005160	NA	Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.844C>T	11.37:g.5153029G>A	ENSP00000303469:p.Leu282Phe	NA		37	CCDS31373.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.380793	0.24944	.	.	ENSG00000171944	ENST00000307388	T	0.00174	8.62	4.95	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	D	0.000674	T	0.00241	0.0007	M	0.64080	1.96	0.35217	D	0.775657	B	0.18610	0.029	B	0.27887	0.084	T	0.59553	-0.7433	10	0.51188	T	0.08	.	12.1449	0.54018	0.0:0.0:0.6904:0.3096	.	282	Q9H2C5	O52A5_HUMAN	F	282	ENSP00000303469:L282F	ENSP00000303469:L282F	L	-	1	0	OR52A5	5109605	0.000000	0.05858	0.772000	0.31596	0.745000	0.42441	-1.550000	0.02180	1.288000	0.44600	0.655000	0.94253	CTT	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000142823.1		-	ENST00000307388.1	Missense_Mutation	SNP	11 : 5153029 - 5153029 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	391	71
GNAO1	2775	broad.mit.edu	37	16	56385326	56385326	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56385326G>A	ENST00000262493.6	+	7	1600	c.754G>A	c.(754-756)Gac>Aac	p.D252N		NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	252					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	p.D252N(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				CATGCTCTTCGACTCCATCTG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											154	128	137			NA	NA	16		NA											NA				56385326		2198	4300	6498	SO:0001583	missense				CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258	2775	2775			4389	protein-coding gene	gene with protein product		139311			NA	1899283, 11395521	Standard	NM_020988	NM_020988	NA	Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.754G>A	16.37:g.56385326G>A	ENSP00000262493:p.Asp252Asn	NA	P29777|Q8TD72|Q9UMV4	37	CCDS10756.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.850265	0.91277	.	.	ENSG00000087258	ENST00000262493	D	0.88586	-2.4	5.91	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.91794	0.7404	M	0.76328	2.33	0.80722	D	1	D	0.56746	0.977	P	0.52454	0.699	D	0.90947	0.4802	10	0.33940	T	0.23	.	17.2009	0.86906	0.0:0.126:0.874:0.0	.	252	P09471	GNAO_HUMAN	N	252	ENSP00000262493:D252N	ENSP00000262493:D252N	D	+	1	0	GNAO1	54942827	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.012000	0.88631	1.493000	0.48517	0.462000	0.41574	GAC	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256981.2		+	ENST00000262493.6	Missense_Mutation	SNP	16 : 56385326 - 56385326 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	256	32
OR13F1	138805	broad.mit.edu	37	9	107266825	107266825	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107266825C>A	ENST00000334726.2	+	1	371	c.282C>A	c.(280-282)ttC>ttA	p.F94L		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	94			F -> S (in dbSNP:rs7018553).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTATTTCATTCTCAGGGTGCG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	103	107			NA	NA	9		NA											NA				107266825		2203	4300	6503	SO:0001583	missense				CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881	138805	138805		GPCR / Class A : Olfactory receptors	14723	protein-coding gene	gene with protein product					NA		Standard		NM_001004485	NA	Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.282C>A	9.37:g.107266825C>A	ENSP00000334452:p.Phe94Leu	NA	Q6IF50	37	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965343	0.34659	.	.	ENSG00000186881	ENST00000334726	T	0.00327	8.09	4.26	2.43	0.29744	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000052	T	0.00271	0.0008	M	0.64404	1.975	0.24525	N	0.994144	B	0.33022	0.394	B	0.33521	0.165	T	0.40251	-0.9573	10	0.66056	D	0.02	.	3.8682	0.09025	0.1898:0.6118:0.0:0.1984	.	94	Q8NGS4	O13F1_HUMAN	L	94	ENSP00000334452:F94L	ENSP00000334452:F94L	F	+	3	2	OR13F1	106306646	0.000000	0.05858	0.991000	0.47740	0.778000	0.44026	-0.041000	0.12084	0.759000	0.33084	-0.145000	0.13849	TTC	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053475.1		+	ENST00000334726.2	Missense_Mutation	SNP	9 : 107266825 - 107266825 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	496	87
GPR182	11318	broad.mit.edu	37	12	57389924	57389924	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57389924C>T	ENST00000300098.1	+	2	1150	c.931C>T	c.(931-933)Ctg>Ttg	p.L311L		NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	311						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						CTTCTCCATGCTGCACTGTGT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													250	217	228			NA	NA	12		NA											NA				57389924		2203	4300	6503	SO:0001819	synonymous_variant			Y13583	CCDS8927.1	12q13.3	2012-08-21	2007-09-24	2007-09-24		ENSG00000166856	11318	11318		GPCR / Class A : Orphans	13708	protein-coding gene	gene with protein product		605307	adrenomedullin receptor	ADMR	NA	9367907, 9535752	Standard	NM_007264	NM_007264	NA	Approved	hrhAMR, G10D, AM-R	uc001smk.3	O15218		ENST00000300098.1:c.931C>T	12.37:g.57389924C>T		NA		37	CCDS8927.1																																																																																			GPR182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411212.1		+	ENST00000300098.1	Silent	SNP	12 : 57389924 - 57389924 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1334	114
ZNF208	7757	broad.mit.edu	37	19	22155498	22155498	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22155498C>T	ENST00000397126.4	-	4	2486	c.2338G>A	c.(2338-2340)Gaa>Aaa	p.E780K	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208	NA										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCACATTCTTCACATTTGTAG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	44	43			NA	NA	19		NA											NA				22155498		2072	4229	6301	SO:0001583	missense			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321	7757	7757		Zinc fingers, C2H2-type, -	12999	protein-coding gene	gene with protein product	zinc finger protein 95	603977			NA	9724325	Standard	NM_007153	NM_007153	NA	Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2338G>A	19.37:g.22155498C>T	ENSP00000380315:p.Glu780Lys	NA		37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.909089	0.00508	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.16597	2.33	2.28	1.18	0.20946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10723	0.0262	.	.	.	0.09310	N	1	P	0.41498	0.752	P	0.46917	0.531	T	0.13791	-1.0496	8	0.07030	T	0.85	.	3.7366	0.08512	0.0:0.163:0.4103:0.4267	.	680	O43345	ZN208_HUMAN	K	780;680	ENSP00000380315:E780K	ENSP00000380315:E780K	E	-	1	0	ZNF208	21947338	0.000000	0.05858	0.352000	0.25734	0.210000	0.24377	-4.535000	0.00219	-0.123000	0.11745	0.280000	0.19369	GAA	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464302.1		-	ENST00000397126.4	Missense_Mutation	SNP	19 : 22155498 - 22155498 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	350	27
SLC14A2	8170	broad.mit.edu	37	18	43262376	43262376	+	Silent	SNP	G	G	T	rs143610580		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43262376G>T	ENST00000255226.6	+	20	3471	c.2655G>T	c.(2653-2655)ccG>ccT	p.P885P	SLC14A2_ENST00000589658.1_Silent_p.P362P|SLC14A2_ENST00000586448.1_Silent_p.P885P|RP11-116O18.3_ENST00000589510.1_RNA	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	885						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.P885P(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACAAGCTCCCGCTCAGCAAAG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	ovary(1)											250	240	244			NA	NA	18		NA											NA				43262376		2203	4300	6503	SO:0001819	synonymous_variant			X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874	8170	8170		Solute carriers	10919	protein-coding gene	gene with protein product		601611			NA	8647271	Standard		NM_007163	NA	Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.2655G>T	18.37:g.43262376G>T		NA	A8K8Q7|Q2TBD6|Q96PH5	37	CCDS11924.1																																																																																			SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255858.1		+	ENST00000255226.6	Silent	SNP	18 : 43262376 - 43262376 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1108	205
APOBEC3D	140564	broad.mit.edu	37	22	39418964	39418964	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39418964C>T	ENST00000216099.8	+	2	562	c.155C>T	c.(154-156)aCa>aTa	p.T52I	APOBEC3D_ENST00000427494.2_Missense_Mutation_p.T52I|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.T52I	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	NA					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					CTTTGGGACACAGGGGTCTTT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	60	58			NA	NA	22		NA											NA				39418964		2203	4300	6503	SO:0001583	missense			BF832090	CCDS46709.1	22q13.1	2012-10-19	2008-05-01		ENSG00000243811	ENSG00000243811	140564	140564		Apolipoprotein B mRNA editing enzymes	17354	protein-coding gene	gene with protein product		609900	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative), apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene	APOBEC3E	NA	11863358	Standard	NM_152426	NM_152426	NA	Approved	ARP6, APOBEC3DE	uc003awt.4	Q96AK3	OTTHUMG00000151084	ENST00000216099.8:c.155C>T	22.37:g.39418964C>T	ENSP00000216099:p.Thr52Ile	NA	Q5JZ91|Q7Z2N2|Q7Z2N5|Q7Z2N6	37	CCDS46709.1	.	.	.	.	.	.	.	.	.	.	.	12.14	1.849772	0.32699	.	.	ENSG00000243811	ENST00000381568;ENST00000216099;ENST00000427494	T;T;T	0.64260	-0.09;-0.09;0.03	2.36	-4.72	0.03269	APOBEC-like, N-terminal (1);	.	.	.	.	T	0.51058	0.1652	L	0.39898	1.24	0.09310	N	1	P;D;P	0.54397	0.684;0.966;0.501	B;P;B	0.48368	0.326;0.575;0.109	T	0.48703	-0.9012	9	0.52906	T	0.07	.	4.8818	0.13683	0.4815:0.2903:0.2282:0.0	.	52;52;52	B2CML4;Q6ICH2;Q96AK3	.;.;ABC3D_HUMAN	I	52	ENSP00000370980:T52I;ENSP00000216099:T52I;ENSP00000388017:T52I	ENSP00000216099:T52I	T	+	2	0	APOBEC3D	37748910	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-3.192000	0.00564	-1.504000	0.01810	0.485000	0.47835	ACA	APOBEC3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321232.2		+	ENST00000216099.8	Missense_Mutation	SNP	22 : 39418964 - 39418964 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	530	91
THADA	63892	broad.mit.edu	37	2	43625219	43625219	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43625219A>C	ENST00000405006.4	-	29	4469	c.4118T>G	c.(4117-4119)tTt>tGt	p.F1373C	THADA_ENST00000330266.7_Intron|THADA_ENST00000485353.1_5'UTR|THADA_ENST00000405975.2_Missense_Mutation_p.F1373C|THADA_ENST00000415080.2_Missense_Mutation_p.F1054C	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1373							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TATCATAACAAATGGGACCAA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	137	136			NA	NA	2		NA											NA				43625219		2018	4191	6209	SO:0001583	missense			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970	63892	63892			19217	protein-coding gene	gene with protein product		611800			NA	12063398, 11214970	Standard	NM_022065	NM_022065	NA	Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.4118T>G	2.37:g.43625219A>C	ENSP00000385995:p.Phe1373Cys	NA	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	37	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.2|20.2	3.944723|3.944723	0.73672|0.73672	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006|ENST00000407351	T;T;T|.	0.66099|.	-0.19;-0.19;-0.19|.	5.17|5.17	5.17|5.17	0.71159|0.71159	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72455|0.72455	0.3462|0.3462	M|M	0.70275|0.70275	2.135|2.135	0.47994|0.47994	D|D	0.999564|0.999564	D;D;D;D|.	0.76494|.	0.996;0.999;0.987;0.964|.	P;D;P;P|.	0.64506|.	0.889;0.926;0.717;0.541|.	T|T	0.73069|0.73069	-0.4099|-0.4099	10|5	0.39692|.	T|.	0.17|.	.|.	14.0046|14.0046	0.64456|0.64456	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1052;1300;1054;1373|.	Q6YHU6-2;B6ZDQ0;C9JJB1;Q6YHU6|.	.;.;.;THADA_HUMAN|.	C|V	1373;1300;1054;1373|613	ENSP00000386088:F1373C;ENSP00000416048:F1054C;ENSP00000385995:F1373C|.	ENSP00000349464:F1300C|.	F|L	-|-	2|1	0|2	THADA|THADA	43478723|43478723	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.982000|0.982000	0.71751|0.71751	5.562000|5.562000	0.67346|0.67346	1.943000|1.943000	0.56356|0.56356	0.528000|0.528000	0.53228|0.53228	TTT|TTG	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326070.3		-	ENST00000405006.4	Missense_Mutation	SNP	2 : 43625219 - 43625219 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	577	147
SEMA6A	57556	broad.mit.edu	37	5	115813812	115813812	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:115813812C>T	ENST00000343348.6	-	14	2253	c.1466G>A	c.(1465-1467)gGc>gAc	p.G489D	CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.G489D|SEMA6A_ENST00000282394.6_Missense_Mutation_p.G21D|SEMA6A_ENST00000510263.1_Missense_Mutation_p.G489D|CTB-118N6.3_ENST00000508640.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	489	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CAGCTGCATGCCCATGATCCT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	97	97			NA	NA	5		NA											NA				115813812		2040	4200	6240	SO:0001583	missense			AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421		57556	57556		Semaphorins	10738	protein-coding gene	gene with protein product	sema VIa	605885		SEMAQ	NA	9204478, 10993894	Standard	NM_020796	XM_006714663	NA	Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.1466G>A	5.37:g.115813812C>T	ENSP00000345512:p.Gly489Asp	NA	Q9P2H9	37	CCDS47256.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.380670|4.380670	0.82792|0.82792	.|.	.|.	ENSG00000092421|ENSG00000092421	ENST00000515129|ENST00000343348;ENST00000257414;ENST00000282394;ENST00000510263	.|T;T;T;T	.|0.20200	.|2.09;2.09;2.09;2.09	5.98|5.98	5.98|5.98	0.97165|0.97165	.|WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	.|0.048510	.|0.85682	.|D	.|0.000000	T|T	0.42337|0.42337	0.1198|0.1198	M|M	0.66939|0.66939	2.045|2.045	0.35680|0.35680	D|D	0.814023|0.814023	.|D;P;P;B	.|0.53312	.|0.959;0.698;0.949;0.378	.|P;B;P;B	.|0.58454	.|0.839;0.305;0.79;0.138	T|T	0.50491|0.50491	-0.8822|-0.8822	5|10	.|0.87932	.|D	.|0	.|.	16.595|16.595	0.84794|0.84794	0.0:0.8699:0.1301:0.0|0.0:0.8699:0.1301:0.0	.|.	.|489;33;489;21	.|Q9H2E6;Q96SM8;Q9H2E6-2;E7ERF3	.|SEM6A_HUMAN;.;.;.	T|D	59|489;489;21;489	.|ENSP00000345512:G489D;ENSP00000257414:G489D;ENSP00000282394:G21D;ENSP00000424388:G489D	.|ENSP00000257414:G489D	A|G	-|-	1|2	0|0	SEMA6A|SEMA6A	115841711|115841711	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	4.891000|4.891000	0.63185|0.63185	2.835000|2.835000	0.97688|0.97688	0.650000|0.650000	0.86243|0.86243	GCA|GGC	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000371270.1		-	ENST00000343348.6	Missense_Mutation	SNP	5 : 115813812 - 115813812 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	321	65
PSG9	5678	broad.mit.edu	37	19	43766205	43766205	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43766205C>T	ENST00000244293.7	-	3	582	c.516G>A	c.(514-516)gaG>gaA	p.E172E	PSG9_ENST00000443718.3_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Silent_p.E172E|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000270077.3_Silent_p.E172E			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	172	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CGTCCAGAGTCTCAGGATCAC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													241	234	236			NA	NA	19		NA											NA				43766205		2203	4300	6503	SO:0001819	synonymous_variant			M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668	5678	5678		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	9526	protein-coding gene	gene with protein product		176398		PSG11	NA	7806221	Standard	NM_002784	XM_005259076	NA	Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000244293.7:c.516G>A	19.37:g.43766205C>T		NA	B2R869|Q15236|Q15237|Q8WW78|Q9UQ73	37																																																																																				PSG9-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000323066.1		-	ENST00000244293.7	Silent	SNP	19 : 43766205 - 43766205 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1635	316
ZNF770	54989	broad.mit.edu	37	15	35273720	35273720	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:35273720T>C	ENST00000356321.4	-	3	2260	c.1916A>G	c.(1915-1917)aAa>aGa	p.K639R		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	639					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TCTTTCCAGTTTAGATGGAGA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	134	138			NA	NA	15		NA											NA				35273720		2201	4298	6499	SO:0001583	missense			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146	54989	54989		Zinc fingers, C2H2-type	26061	protein-coding gene	gene with protein product					NA		Standard	NM_014106	NM_014106	NA	Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.1916A>G	15.37:g.35273720T>C	ENSP00000348673:p.Lys639Arg	NA	Q6ZMZ6|Q9NWV2	37	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	T	14.69	2.611236	0.46631	.	.	ENSG00000198146	ENST00000356321	T	0.27890	1.64	5.27	5.27	0.74061	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.25005	0.0607	N	0.11364	0.135	0.23716	N	0.997036	P	0.48503	0.911	P	0.54460	0.753	T	0.13045	-1.0524	10	0.15066	T	0.55	-13.6585	10.5307	0.44975	0.0:0.0751:0.0:0.9249	.	639	Q6IQ21	ZN770_HUMAN	R	639	ENSP00000348673:K639R	ENSP00000348673:K639R	K	-	2	0	ZNF770	33061012	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.295000	0.51794	2.219000	0.72066	0.460000	0.39030	AAA	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251896.2		-	ENST00000356321.4	Missense_Mutation	SNP	15 : 35273720 - 35273720 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	705	124
NOMO1	23420	broad.mit.edu	37	16	14970277	14970277	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14970277G>T	ENST00000287667.7	+	21	2589	c.2418G>T	c.(2416-2418)caG>caT	p.Q806H		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	806						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TAGAAGGCCAGATCCACCCCG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	92	94			NA	NA	16		NA											NA				14970277		2194	4297	6491	SO:0001583	missense			X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512	23420	23420			30060	protein-coding gene	gene with protein product		609157			NA	1310294, 15257293	Standard		NM_014287	NA	Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.2418G>T	16.37:g.14970277G>T	ENSP00000287667:p.Gln806His	NA	P78421|Q8IW21|Q96DG0	37	CCDS10556.1	.	.	.	.	.	.	.	.	.	.	.	14.72	2.621047	0.46736	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.04234	3.67	3.57	3.57	0.40892	.	0.059244	0.64402	D	0.000002	T	0.06462	0.0166	L	0.54323	1.7	0.50467	D	0.999874	P	0.41748	0.761	B	0.38500	0.275	T	0.41305	-0.9516	10	0.35671	T	0.21	-19.8079	12.7421	0.57259	0.0:0.0:1.0:0.0	.	806	Q15155	NOMO1_HUMAN	H	806;806;639	ENSP00000287667:Q806H	ENSP00000287667:Q806H	Q	+	3	2	NOMO1	14877778	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.034000	0.41145	1.821000	0.53095	0.398000	0.26397	CAG	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207065.1		+	ENST00000287667.7	Missense_Mutation	SNP	16 : 14970277 - 14970277 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	447	103
NBAS	51594	broad.mit.edu	37	2	15601859	15601859	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15601859C>T	ENST00000281513.5	-	20	2179	c.2154G>A	c.(2152-2154)aaG>aaA	p.K718K	NBAS_ENST00000441750.1_Silent_p.K718K	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	718										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTCTGAATTTCTTAAAGAATT	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	29	29			NA	NA	2		NA											NA				15601859		2201	4289	6490	SO:0001819	synonymous_variant			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779	51594	51594			15625	protein-coding gene	gene with protein product		608025			NA	9926938, 12706883	Standard	NM_015909	NM_015909	NA	Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.2154G>A	2.37:g.15601859C>T		NA	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	37	CCDS1685.1																																																																																			NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000241638.1		-	ENST00000281513.5	Silent	SNP	2 : 15601859 - 15601859 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	146	24
OR4D6	219983	broad.mit.edu	37	11	59225177	59225177	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59225177T>A	ENST00000300127.2	+	1	767	c.744T>A	c.(742-744)acT>acA	p.T248T		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TGGTGGTGACTCTTCACTTCG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	108	112			NA	NA	11		NA											NA				59225177		2201	4295	6496	SO:0001819	synonymous_variant			AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884	219983	219983		GPCR / Class A : Olfactory receptors	15175	protein-coding gene	gene with protein product					NA		Standard	NM_001004708	NM_001004708	NA	Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.744T>A	11.37:g.59225177T>A		NA	B2RNP7|Q6IFF5|Q96R74	37	CCDS31562.1																																																																																			OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394234.1		+	ENST00000300127.2	Silent	SNP	11 : 59225177 - 59225177 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	16
SIGLEC1	6614	broad.mit.edu	37	20	3673398	3673398	+	Missense_Mutation	SNP	G	G	A	rs150431597		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3673398G>A	ENST00000344754.4	-	15	3799	c.3800C>T	c.(3799-3801)cCg>cTg	p.P1267L	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.P1267L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1267	Ig-like C2-type 13.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGCAGCCTCCGGAGCCAGGAT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	LEU/PRO	0,4406		0,0,2203	35	35	35		3800	4.8	0.4	20	dbSNP_134	35	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SIGLEC1	NM_023068.3	98	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	1267/1710	3673398	1,13005	2203	4300	6503	SO:0001583	missense			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827	6614	6614		CD molecules, Sialic acid binding Ig-like lectins, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	11127	protein-coding gene	gene with protein product		600751	sialoadhesin	SN	NA	8530048	Standard	NM_023068	XM_006723610	NA	Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3800C>T	20.37:g.3673398G>A	ENSP00000341141:p.Pro1267Leu	NA	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	37	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199195	0.38806	0.0	1.16E-4	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.14144	2.53;2.53	5.74	4.78	0.61160	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36628	N	0.002482	T	0.44222	0.1283	M	0.92169	3.28	0.27153	N	0.961358	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.50767	-0.8789	10	0.29301	T	0.29	.	12.6884	0.56960	0.0:0.1658:0.8342:0.0	.	1267;1267	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	L	1267	ENSP00000341141:P1267L;ENSP00000202578:P1267L	ENSP00000202578:P1267L	P	-	2	0	SIGLEC1	3621398	0.998000	0.40836	0.438000	0.26821	0.042000	0.13812	5.600000	0.67599	1.405000	0.46838	0.561000	0.74099	CCG	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077761.2		-	ENST00000344754.4	Missense_Mutation	SNP	20 : 3673398 - 3673398 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	360	88
VKORC1	79001	broad.mit.edu	37	16	31104728	31104728	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31104728A>G	ENST00000319788.7	-	2	398	c.188T>C	c.(187-189)tTc>tCc	p.F63S	VKORC1_ENST00000300851.6_Silent_p.F83F|VKORC1_ENST00000394971.3_Silent_p.F94F|VKORC1_ENST00000498155.1_Silent_p.F95F|RP11-196G11.1_ENST00000529564.1_Missense_Mutation_p.F63S|VKORC1_ENST00000354895.4_Intron|VKORC1_ENST00000394975.2_Missense_Mutation_p.F63S			Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	63					peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	CACCAGCCCGAAACCCCTGCC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	77	85			NA	NA	16		NA											NA				31104728		2197	4300	6497	SO:0001583	missense				CCDS10703.1, CCDS10704.1	16p11.2	2008-02-05	2004-07-23		ENSG00000167397	ENSG00000167397	79001	79001			23663	protein-coding gene	gene with protein product		608547	vitamin K dependent clotting factors deficiency 2	VKCFD2	NA		Standard	NM_024006	NM_024006	NA	Approved		uc002eas.3	Q9BQB6	OTTHUMG00000047408	ENST00000319788.7:c.188T>C	16.37:g.31104728A>G	ENSP00000326135:p.Phe63Ser	NA	B2R4Z6|Q6UX90|Q7Z2R4	37		.	.	.	.	.	.	.	.	.	.	A	26.5	4.743712	0.89663	.	.	ENSG00000167397;ENSG00000167397;ENSG00000255439	ENST00000319788;ENST00000394975;ENST00000529564	D;D;D	0.98717	-5.09;-5.09;-5.09	6.08	6.08	0.98989	Vitamin K epoxide reductase (2);	0.000000	0.64402	D	0.000002	D	0.99162	0.9710	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.99556	1.0967	10	0.87932	D	0	-42.7049	15.6264	0.76863	1.0:0.0:0.0:0.0	.	63;63	Q9BQB6-2;Q9BQB6	.;VKOR1_HUMAN	S	63	ENSP00000326135:F63S;ENSP00000378426:F63S;ENSP00000431371:F63S	ENSP00000431371:F63S	F	-	2	0	RP11-196G11.1;VKORC1	31012229	1.000000	0.71417	0.997000	0.53966	0.757000	0.42996	7.469000	0.80959	2.333000	0.79357	0.533000	0.62120	TTC	VKORC1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000108583.1		-	ENST00000319788.7	Missense_Mutation	SNP	16 : 31104728 - 31104728 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	60
ANK2	287	broad.mit.edu	37	4	114161660	114161660	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114161660A>G	ENST00000357077.4	+	8	766	c.713A>G	c.(712-714)cAc>cGc	p.H238R	ANK2_ENST00000506722.1_Missense_Mutation_p.H217R|ANK2_ENST00000394537.3_Missense_Mutation_p.H238R|ANK2_ENST00000264366.6_Missense_Mutation_p.H238R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	238					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACCCCTTTGCACATAGCTGCA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	147	150			NA	NA	4		NA											NA				114161660		2203	4300	6503	SO:0001583	missense			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362	287	287		Ankyrin repeat domain containing	493	protein-coding gene	gene with protein product		106410	long (electrocardiographic) QT syndrome 4	LQT4	NA	7485162, 12571597	Standard	NM_001148	NM_001148	NA	Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.713A>G	4.37:g.114161660A>G	ENSP00000349588:p.His238Arg	NA	Q01485|Q08AC7|Q08AC8|Q7Z3L5	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.553975	0.86231	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.71103	-0.48;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54	5.5	5.5	0.81552	Ankyrin repeat-containing domain (3);	0.000000	0.53938	D	0.000055	D	0.86847	0.6031	M	0.90425	3.115	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.997	D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;0.984	D	0.89512	0.3772	10	0.72032	D	0.01	.	15.5709	0.76337	1.0:0.0:0.0:0.0	.	238;238;238;217;217	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	R	217;217;217;253;238;238;238;217	ENSP00000423799:H217R;ENSP00000421011:H217R;ENSP00000421067:H217R;ENSP00000424722:H253R;ENSP00000378044:H238R;ENSP00000349588:H238R;ENSP00000264366:H238R	ENSP00000264366:H238R	H	+	2	0	ANK2	114381109	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.287000	0.95975	2.212000	0.71576	0.528000	0.53228	CAC	ANK2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256422.2		+	ENST00000357077.4	Missense_Mutation	SNP	4 : 114161660 - 114161660 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	437	74
CNTN6	27255	broad.mit.edu	37	3	1414156	1414156	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:1414156G>T	ENST00000446702.2	+	13	2293	c.1666G>T	c.(1666-1668)Gga>Tga	p.G556*	CNTN6_ENST00000350110.2_Nonsense_Mutation_p.G556*|CNTN6_ENST00000539053.1_Nonsense_Mutation_p.G484*			Q9UQ52	CNTN6_HUMAN	contactin 6	556	Ig-like C2-type 6.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AAGGATTGGAGGAGTAAGTTA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	86	85			NA	NA	3		NA											NA				1414156		2203	4300	6503	SO:0001587	stop_gained			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115	27255	27255		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	2176	protein-coding gene	gene with protein product	neural adhesion molecule	607220			NA	9486763	Standard	NM_014461	NM_014461	NA	Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.1666G>T	3.37:g.1414156G>T	ENSP00000407822:p.Gly556*	NA	Q2KHM2	37	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	44	11.096650	0.99515	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	.	.	.	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	14.9318	0.70919	0.0706:0.0:0.9294:0.0	.	.	.	.	X	556;484;556	.	ENSP00000341882:G556X	G	+	1	0	CNTN6	1389156	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.376000	0.79658	2.732000	0.93576	0.650000	0.86243	GGA	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239235.2		+	ENST00000446702.2	Nonsense_Mutation	SNP	3 : 1414156 - 1414156 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	311	59
FREM1	158326	broad.mit.edu	37	9	14851350	14851350	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14851350C>A	ENST00000380880.3	-	6	1867	c.1084G>T	c.(1084-1086)Gat>Tat	p.D362Y	FREM1_ENST00000422223.2_Missense_Mutation_p.D362Y|FREM1_ENST00000380881.4_Missense_Mutation_p.D363Y			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	362					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCACTGAGATCTTTCCAGGTG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	105	106			NA	NA	9		NA											NA				14851350		2090	4217	6307	SO:0001583	missense			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946	158326	158326			23399	protein-coding gene	gene with protein product		608944	chromosome 9 open reading frame 154	C9orf154	NA	12838346, 15345741	Standard	NM_144966	NM_144966	NA	Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1084G>T	9.37:g.14851350C>A	ENSP00000370262:p.Asp362Tyr	NA	Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	37	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544991	0.86022	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.27256	1.69;1.68;1.68	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.57917	0.2086	M	0.88906	2.99	0.58432	D	0.999996	D	0.89917	1.0	D	0.85130	0.997	T	0.63808	-0.6553	10	0.87932	D	0	-20.9343	14.6418	0.68732	0.0:0.9309:0.0:0.0691	.	362	Q5H8C1	FREM1_HUMAN	Y	363;362;362	ENSP00000370263:D363Y;ENSP00000412940:D362Y;ENSP00000370262:D362Y	ENSP00000370257:D365Y	D	-	1	0	FREM1	14841350	1.000000	0.71417	0.987000	0.45799	0.934000	0.57294	4.660000	0.61511	2.850000	0.98022	0.655000	0.94253	GAT	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339474.2		-	ENST00000380880.3	Missense_Mutation	SNP	9 : 14851350 - 14851350 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	61
TAB3	257397	broad.mit.edu	37	X	30872954	30872954	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:30872954C>A	ENST00000378933.1	-	3	1005	c.828G>T	c.(826-828)caG>caT	p.Q276H	TAB3_ENST00000378932.2_Missense_Mutation_p.Q276H|TAB3_ENST00000378930.3_Missense_Mutation_p.Q276H|TAB3_ENST00000288422.2_Missense_Mutation_p.Q276H	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	276	Pro-rich.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|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	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						ACTGAGAAGGCTGATAGTTCT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(164;1598 1985 29022 43301 49529)							NA				0													111	86	95			NA	NA	X		NA											NA				30872954		2202	4300	6502	SO:0001583	missense			AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625	257397	257397			30681	protein-coding gene	gene with protein product	TAK1 binding protein 3	300480	mitogen-activated protein kinase kinase kinase 7 interacting protein 3	MAP3K7IP3	NA	14633987, 14670075	Standard	NM_152787	XM_005274482	NA	Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.828G>T	X.37:g.30872954C>A	ENSP00000368215:p.Gln276His	NA	A6NDD9|Q6VQR0	37	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	T	11.36	1.615977	0.28801	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.78816	-1.03;-1.03;-1.03;-1.21	4.92	-5.93	0.02254	.	0.000000	0.64402	D	0.000002	T	0.79610	0.4475	L	0.32530	0.975	0.36471	D	0.867261	D;D	0.64830	0.994;0.99	D;D	0.75484	0.986;0.969	T	0.80498	-0.1356	10	0.72032	D	0.01	-3.0975	18.21	0.89867	0.0:0.6435:0.0:0.3565	.	276;276	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	H	276	ENSP00000368215:Q276H;ENSP00000368212:Q276H;ENSP00000288422:Q276H;ENSP00000368214:Q276H	ENSP00000288422:Q276H	Q	-	3	2	TAB3	30782875	0.004000	0.15560	0.809000	0.32408	0.390000	0.30446	-1.953000	0.01526	-1.819000	0.01216	-0.415000	0.06103	CAG	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056173.1		-	ENST00000378933.1	Missense_Mutation	SNP	X : 30872954 - 30872954 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	152	30
MYO3A	53904	broad.mit.edu	37	10	26443677	26443677	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26443677C>T	ENST00000265944.5	+	25	2884	c.2718C>T	c.(2716-2718)ggC>ggT	p.G906G	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	906	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTCCTTAGGGCGACACTGGAG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	97	98			NA	NA	10		NA											NA				26443677		2203	4300	6503	SO:0001819	synonymous_variant			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777	53904	53904		Myosins / Myosin superfamily : Class III	7601	protein-coding gene	gene with protein product		606808	deafness, autosomal recessive 30	DFNB30	NA	10936054	Standard	NM_017433	NM_017433	NA	Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2718C>T	10.37:g.26443677C>T		NA	Q5VZ28|Q8WX17|Q9NYS8	37	CCDS7148.1																																																																																			MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047259.1		+	ENST00000265944.5	Silent	SNP	10 : 26443677 - 26443677 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	145	31
TCF19	6941	broad.mit.edu	37	6	31130430	31130430	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31130430G>T	ENST00000376257.3	+	4	1728	c.974G>T	c.(973-975)aGc>aTc	p.S325I	TCF19_ENST00000376255.4_Missense_Mutation_p.S325I|TCF19_ENST00000496421.1_3'UTR	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	325					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GTTGGCTGCAGCATCCAGGCT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	55	52			NA	NA	6		NA											NA				31130430		1431	2650	4081	SO:0001583	missense			U25826	CCDS43446.1	6p21.3	2013-01-28	2009-02-05		ENSG00000137310	ENSG00000137310	6941	6941		Zinc fingers, PHD-type	11629	protein-coding gene	gene with protein product		600912			NA	1868030, 8595903	Standard	NM_007109	NM_001077511	NA	Approved	SC1	uc003nss.3	Q9Y242	OTTHUMG00000031274	ENST00000376257.3:c.974G>T	6.37:g.31130430G>T	ENSP00000365433:p.Ser325Ile	NA	A6NCT8|B0UY11|Q0EFA8|Q13176|Q15967|Q5SQ89|Q5STD6|Q5STF5|Q9BUM2|Q9UBH7	37	CCDS43446.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119860	0.77323	.	.	ENSG00000137310	ENST00000376257;ENST00000376255	D;D	0.85258	-1.96;-1.96	4.85	3.96	0.45880	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	1.639190	0.03436	N	0.208510	D	0.90184	0.6932	M	0.72118	2.19	0.80722	D	1	D	0.69078	0.997	D	0.68621	0.959	T	0.81949	-0.0699	10	0.87932	D	0	-42.3361	11.364	0.49660	0.0912:0.0:0.9088:0.0	.	325	Q9Y242	TCF19_HUMAN	I	325	ENSP00000365433:S325I;ENSP00000365431:S325I	ENSP00000365431:S325I	S	+	2	0	TCF19	31238409	0.970000	0.33590	1.000000	0.80357	0.991000	0.79684	1.626000	0.37039	2.518000	0.84900	0.542000	0.68232	AGC	TCF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076595.2		+	ENST00000376257.3	Missense_Mutation	SNP	6 : 31130430 - 31130430 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	71
CDH15	1013	broad.mit.edu	37	16	89256724	89256724	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89256724C>A	ENST00000289746.2	+	8	1117	c.1052C>A	c.(1051-1053)gCt>gAt	p.A351D		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	351	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CTGCAGGCGGCTGCCCTTAGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	26	26			NA	NA	16		NA											NA				89256724		2194	4297	6491	SO:0001583	missense			D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910	1013	1013		Cadherins / Major cadherins	1754	protein-coding gene	gene with protein product		114019	cadherin 15, M-cadherin (myotubule)	CDH3, CDH14	NA	1427864	Standard	NM_004933	NM_004933	NA	Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.1052C>A	16.37:g.89256724C>A	ENSP00000289746:p.Ala351Asp	NA		37	CCDS10976.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.333505	0.24167	.	.	ENSG00000129910	ENST00000289746	T	0.50277	0.75	4.37	2.29	0.28610	Cadherin (4);Cadherin-like (1);	0.785759	0.10424	U	0.676280	T	0.36963	0.0986	N	0.26042	0.785	0.09310	N	1	P	0.41188	0.741	B	0.42692	0.395	T	0.15037	-1.0451	10	0.36615	T	0.2	.	8.5853	0.33655	0.0:0.7586:0.1529:0.0885	.	351	P55291	CAD15_HUMAN	D	351	ENSP00000289746:A351D	ENSP00000289746:A351D	A	+	2	0	CDH15	87784225	0.039000	0.19947	0.001000	0.08648	0.015000	0.08874	2.379000	0.44318	0.832000	0.34804	0.555000	0.69702	GCT	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269920.1		+	ENST00000289746.2	Missense_Mutation	SNP	16 : 89256724 - 89256724 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	147	45
DHCR24	1718	broad.mit.edu	37	1	55319794	55319794	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55319794G>A	ENST00000371269.3	-	7	1232	c.1134C>T	c.(1132-1134)taC>taT	p.Y378Y	DHCR24_ENST00000535035.1_Silent_p.Y337Y|DHCR24_ENST00000537443.1_Silent_p.Y162Y	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	378					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						GGTGCTGCTCGTACAGCTTGC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(39;516 1021 24601 30715 32780)							NA				0													78	73	75			NA	NA	1		NA											NA				55319794		2203	4300	6503	SO:0001819	synonymous_variant			AF261758	CCDS600.1	1p32.3	2008-02-05			ENSG00000116133	ENSG00000116133	1718	1718			2859	protein-coding gene	gene with protein product		606418			NA	11519011	Standard	NM_014762	NM_014762	NA	Approved	KIAA0018, seladin-1	uc001cyc.1	Q15392	OTTHUMG00000009989	ENST00000371269.3:c.1134C>T	1.37:g.55319794G>A		NA	D3DQ51|Q9HBA8	37	CCDS600.1	.	.	.	.	.	.	.	.	.	.	G	9.463	1.093682	0.20471	.	.	ENSG00000116133	ENST00000436604	.	.	.	5.06	-2.13	0.07144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-24.6313	13.0848	0.59133	0.6011:0.0:0.3989:0.0	.	.	.	.	X	16	.	.	R	-	1	2	DHCR24	55092382	0.000000	0.05858	0.992000	0.48379	0.998000	0.95712	-1.693000	0.01917	-0.305000	0.08831	0.561000	0.74099	CGA	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000027680.1		-	ENST00000371269.3	Silent	SNP	1 : 55319794 - 55319794 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	179	38
AHNAK2	113146	broad.mit.edu	37	14	105420293	105420293	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105420293C>A	ENST00000333244.5	-	7	1614	c.1495G>T	c.(1495-1497)Gaa>Taa	p.E499*		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	499						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCTCTTTTTCTGTGGAAAAT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	59	58			NA	NA	14		NA											NA				105420293		1925	4125	6050	SO:0001587	stop_gained			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567	113146	113146			20125	protein-coding gene	gene with protein product		608570	chromosome 14 open reading frame 78	C14orf78	NA	15007166	Standard	NM_138420	NM_138420	NA	Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.1495G>T	14.37:g.105420293C>A	ENSP00000353114:p.Glu499*	NA	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	37	6.337537	0.97485	.	.	ENSG00000185567	ENST00000333244	.	.	.	5.03	3.12	0.35913	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	8.3871	0.32508	0.2317:0.3946:0.3736:0.0	.	.	.	.	X	499	.	ENSP00000353114:E499X	E	-	1	0	AHNAK2	104491338	0.000000	0.05858	0.003000	0.11579	0.019000	0.09904	0.375000	0.20518	0.569000	0.29329	0.561000	0.74099	GAA	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410300.1		-	ENST00000333244.5	Nonsense_Mutation	SNP	14 : 105420293 - 105420293 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	429	82
CD2	914	broad.mit.edu	37	1	117297274	117297274	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117297274C>T	ENST00000369478.3	+	2	191	c.83C>T	c.(82-84)aCg>aTg	p.T28M	CD2_ENST00000369477.1_Missense_Mutation_p.T28M	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	28	Ig-like V-type.				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	AAAGAGATTACGAATGCCTTG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(14;263 555 26380 43512 51332)							NA				0								C	MET/THR	0,4406		0,0,2203	107	107	107		83	-5.3	0	1		107	2,8598	2.2+/-6.3	0,2,4298	no	missense	CD2	NM_001767.3	81	0,2,6501	TT,TC,CC	NA	0.0233,0.0,0.0154	benign	28/352	117297274	2,13004	2203	4300	6503	SO:0001583	missense			BC033583	CCDS889.1	1p13	2013-01-11	2006-03-28		ENSG00000116824	ENSG00000116824	914	914		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing	1639	protein-coding gene	gene with protein product		186990	CD2 antigen (p50), sheep red blood cell receptor	SRBC	NA	2437578	Standard	NM_001767	NM_001767	NA	Approved		uc001egu.4	P06729	OTTHUMG00000022750	ENST00000369478.3:c.83C>T	1.37:g.117297274C>T	ENSP00000358490:p.Thr28Met	NA	Q96TE5	37	CCDS889.1	.	.	.	.	.	.	.	.	.	.	C	3.750	-0.051838	0.07362	0.0	2.33E-4	ENSG00000116824	ENST00000369478;ENST00000369477	D	0.82803	-1.65	2.63	-5.27	0.02763	.	6.445950	0.00357	N	0.000022	T	0.36608	0.0973	N	0.08118	0	0.09310	N	1	B;B;B	0.25441	0.0;0.126;0.0	B;B;B	0.19148	0.0;0.024;0.0	T	0.35773	-0.9775	10	0.46703	T	0.11	2.157	1.0468	0.01571	0.2041:0.1478:0.3584:0.2897	.	28;28;28	B4E0G3;B4DVN2;P06729	.;.;CD2_HUMAN	M	28	ENSP00000358490:T28M	ENSP00000358489:T28M	T	+	2	0	CD2	117098797	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.474000	0.00228	-2.418000	0.00566	-0.941000	0.02677	ACG	CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059039.2		+	ENST00000369478.3	Missense_Mutation	SNP	1 : 117297274 - 117297274 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	603	62
RELA	5970	broad.mit.edu	37	11	65423197	65423197	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65423197G>T	ENST00000525693.1	-	10	1057	c.995C>A	c.(994-996)gCt>gAt	p.A332D	RELA_ENST00000406246.3_Missense_Mutation_p.A332D|RELA_ENST00000308639.9_Missense_Mutation_p.A329D			Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	332					anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|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	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GGAAGGCACAGCAATGCGTCG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	87	88			NA	NA	11		NA											NA				65423197		2201	4297	6498	SO:0001583	missense			Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039	5970	5970			9955	protein-coding gene	gene with protein product		164014	nuclear factor of kappa light polypeptide gene enhancer in B-cells 3	NFKB3	NA	2001591	Standard	NM_021975	NM_021975	NA	Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000525693.1:c.995C>A	11.37:g.65423197G>T	ENSP00000432537:p.Ala332Asp	NA	Q6GTV1|Q6SLK1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.0|24.0	4.479028|4.479028	0.84747|0.84747	.|.	.|.	ENSG00000173039|ENSG00000173039	ENST00000406246;ENST00000525693;ENST00000308639;ENST00000545816;ENST00000532999|ENST00000526257	T;T;T;T|.	0.58506|.	0.33;0.33;0.33;0.33|.	4.61|4.61	4.61|4.61	0.57282|0.57282	.|.	0.308394|.	0.29900|.	N|.	0.010905|.	T|T	0.65396|0.65396	0.2687|0.2687	M|M	0.61703|0.61703	1.905|1.905	0.38713|0.38713	D|D	0.953263|0.953263	P;D;D;D;P;P|.	0.64830|.	0.867;0.994;0.982;0.97;0.882;0.86|.	B;P;P;P;P;B|.	0.57425|.	0.372;0.737;0.82;0.665;0.554;0.285|.	T|T	0.67719|0.67719	-0.5598|-0.5598	10|5	0.27785|.	T|.	0.31|.	-8.8835|-8.8835	12.9567|12.9567	0.58432|0.58432	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	322;319;329;332;343;332|.	Q04206-3;Q04206-2;Q04206-4;Q04206;B4E082;Q2TAM5|.	.;.;.;TF65_HUMAN;.;.|.	D|M	332;332;329;343;343|66	ENSP00000384273:A332D;ENSP00000432537:A332D;ENSP00000311508:A329D;ENSP00000433526:A343D|.	ENSP00000311508:A329D|.	A|L	-|-	2|1	0|2	RELA|RELA	65179773|65179773	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.691000|4.691000	0.61738|0.61738	2.125000|2.125000	0.65367|0.65367	0.555000|0.555000	0.69702|0.69702	GCT|CTG	RELA-006	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000390454.1		-	ENST00000525693.1	Missense_Mutation	SNP	11 : 65423197 - 65423197 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	61
ZNF646	9726	broad.mit.edu	37	16	31088351	31088351	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31088351G>A	ENST00000394979.2	+	1	1129	c.706G>A	c.(706-708)Gag>Aag	p.E236K	ZNF646_ENST00000300850.5_Missense_Mutation_p.E236K			O15015	ZN646_HUMAN	zinc finger protein 646	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TGCTGAGGAGGAGCGGCGGTA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	53	53			NA	NA	16		NA											NA				31088351		2197	4300	6497	SO:0001583	missense			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395	9726	9726		Zinc fingers, C2H2-type	29004	protein-coding gene	gene with protein product					NA		Standard	NM_014699	NM_014699	NA	Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.706G>A	16.37:g.31088351G>A	ENSP00000378429:p.Glu236Lys	NA	Q8IVD8	37		.	.	.	.	.	.	.	.	.	.	G	20.9	4.065241	0.76187	.	.	ENSG00000167395	ENST00000428260;ENST00000300850;ENST00000394979;ENST00000439353	T;T;T	0.34859	2.92;1.34;1.34	5.6	5.6	0.85130	.	.	.	.	.	T	0.51890	0.1701	L	0.34521	1.04	0.37802	D	0.927732	D	0.76494	0.999	D	0.85130	0.997	T	0.57306	-0.7834	9	0.87932	D	0	-19.1463	18.3906	0.90481	0.0:0.0:1.0:0.0	.	236	O15015-2	.	K	236;236;236;1	ENSP00000391271:E236K;ENSP00000300850:E236K;ENSP00000378429:E236K	ENSP00000300850:E236K	E	+	1	0	ZNF646	30995852	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.892000	0.56235	2.640000	0.89533	0.655000	0.94253	GAG	ZNF646-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000108510.2		+	ENST00000394979.2	Missense_Mutation	SNP	16 : 31088351 - 31088351 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	311	69
C8A	731	broad.mit.edu	37	1	57378188	57378188	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:57378188G>A	ENST00000361249.3	+	10	1589	c.1493G>A	c.(1492-1494)cGa>cAa	p.R498Q		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	498	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		p.R498Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AATGCCTGCCGATGTGGGCCT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	skin(1)											89	92	91			NA	NA	1		NA											NA				57378188		2203	4300	6503	SO:0001583	missense			M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131	731	731		Complement system	1352	protein-coding gene	gene with protein product		120950			NA		Standard	NM_000562	NM_000562	NA	Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1493G>A	1.37:g.57378188G>A	ENSP00000354458:p.Arg498Gln	NA	A2RUI4|A2RUI5|Q13668|Q9H130	37	CCDS606.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020350	0.93462	.	.	ENSG00000157131	ENST00000361249	D	0.86562	-2.14	5.73	5.73	0.89815	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	D	0.93119	0.7809	M	0.70903	2.155	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93131	0.6533	10	0.62326	D	0.03	-18.9819	18.0789	0.89436	0.0:0.0:1.0:0.0	.	498	P07357	CO8A_HUMAN	Q	498	ENSP00000354458:R498Q	ENSP00000354458:R498Q	R	+	2	0	C8A	57150776	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	7.424000	0.80242	2.713000	0.92767	0.655000	0.94253	CGA	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022890.1		+	ENST00000361249.3	Missense_Mutation	SNP	1 : 57378188 - 57378188 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	745	159
FOXG1	2290	broad.mit.edu	37	14	29237629	29237629	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:29237629G>A	ENST00000313071.4	+	1	1343	c.1144G>A	c.(1144-1146)Gcc>Acc	p.A382T	FOXG1_ENST00000382535.3_Missense_Mutation_p.A382T	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	382					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue 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			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CCTCACGGCCGCCGCGCTAGC	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	36	38			NA	NA	14		NA											NA				29237629		2202	4297	6499	SO:0001583	missense				CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165	2290	2290		Forkhead boxes	3811	protein-coding gene	gene with protein product		164874	forkhead box G1B, forkhead box G1C, forkhead box G1A	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A	NA	7959731, 17260156	Standard		NM_005249	NA	Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.1144G>A	14.37:g.29237629G>A	ENSP00000339004:p.Ala382Thr	NA	A6NFY2|P55315|Q14488|Q86XT7	37	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886739	0.33348	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.93811	-3.29;-3.29	4.21	4.21	0.49690	.	0.132985	0.49305	U	0.000146	D	0.88533	0.6462	N	0.19112	0.55	0.53005	D	0.999967	D	0.57899	0.981	B	0.44315	0.446	D	0.87944	0.2719	10	0.28530	T	0.3	.	16.9273	0.86180	0.0:0.0:1.0:0.0	.	382	P55316	FOXG1_HUMAN	T	382	ENSP00000371975:A382T;ENSP00000339004:A382T	ENSP00000339004:A382T	A	+	1	0	FOXG1	28307380	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.678000	0.98647	2.042000	0.60477	0.491000	0.48974	GCC	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276559.3		+	ENST00000313071.4	Missense_Mutation	SNP	14 : 29237629 - 29237629 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	362	85
CHD4	1108	broad.mit.edu	37	12	6690899	6690899	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6690899G>T	ENST00000544484.1	-	30	4818	c.4672C>A	c.(4672-4674)Cca>Aca	p.P1558T	CHD4_ENST00000357008.2_Missense_Mutation_p.P1533T|CHD4_ENST00000309577.6_Missense_Mutation_p.P1561T|CHD4_ENST00000544040.1_Missense_Mutation_p.P1526T|RP5-940J5.6_ENST00000501075.2_RNA			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1533					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GGTGACCCTGGCTGGGACATC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(32;586 792 4568 16848 45314)							NA				0													194	186	189			NA	NA	12		NA											NA				6690899		2203	4300	6503	SO:0001583	missense			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642	1108	1108		Zinc fingers, PHD-type	1919	protein-coding gene	gene with protein product		603277			NA	7575689, 8843877	Standard	NM_001273	XM_006718958	NA	Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000544484.1:c.4672C>A	12.37:g.6690899G>T	ENSP00000440392:p.Pro1558Thr	NA	Q8IXZ5	37		.	.	.	.	.	.	.	.	.	.	G	14.87	2.664373	0.47572	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.89875	-2.58;-2.56;-2.58;-2.56	5.76	5.76	0.90799	.	0.129340	0.52532	D	0.000069	D	0.85392	0.5686	L	0.54323	1.7	0.58432	D	0.999997	B;B;P	0.36535	0.435;0.001;0.557	B;B;B	0.35971	0.116;0.002;0.215	T	0.82180	-0.0585	10	0.15066	T	0.55	-4.4237	14.78	0.69760	0.0:0.0:0.8557:0.1442	.	1561;1533;1526	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	T	1558;1526;1561;1533;1507	ENSP00000440392:P1558T;ENSP00000440542:P1526T;ENSP00000312419:P1561T;ENSP00000349508:P1533T	ENSP00000312419:P1561T	P	-	1	0	CHD4	6561160	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.517000	0.81783	2.726000	0.93360	0.655000	0.94253	CCA	CHD4-013	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000402631.1		-	ENST00000544484.1	Missense_Mutation	SNP	12 : 6690899 - 6690899 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	573	87
EPHA8	2046	broad.mit.edu	37	1	22924291	22924291	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22924291G>A	ENST00000166244.3	+	11	2125	c.2053G>A	c.(2053-2055)Gcg>Acg	p.A685T		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	685	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCTGAGCGAGGCGTCCATCAT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	90	89			NA	NA	1		NA											NA				22924291		2203	4300	6503	SO:0001583	missense			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2046	2046	2.7.10.1	EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3391	protein-coding gene	gene with protein product		176945	EphA8	EEK	NA	1648701	Standard	NM_020526	NM_001006943	NA	Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2053G>A	1.37:g.22924291G>A	ENSP00000166244:p.Ala685Thr	NA	Q9NUA9|Q9P269	37	CCDS225.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.916304	0.92249	.	.	ENSG00000070886	ENST00000166244	T	0.63913	-0.07	4.56	4.56	0.56223	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81064	0.4745	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84792	0.0779	10	0.87932	D	0	.	16.0699	0.80919	0.0:0.0:1.0:0.0	.	685	P29322	EPHA8_HUMAN	T	685	ENSP00000166244:A685T	ENSP00000166244:A685T	A	+	1	0	EPHA8	22796878	1.000000	0.71417	0.989000	0.46669	0.675000	0.39556	9.657000	0.98554	2.365000	0.80145	0.462000	0.41574	GCG	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000008085.1		+	ENST00000166244.3	Missense_Mutation	SNP	1 : 22924291 - 22924291 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	676	137
HEATR5B	54497	broad.mit.edu	37	2	37215952	37215952	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37215952A>G	ENST00000233099.5	-	35	5843	c.5748T>C	c.(5746-5748)aaT>aaC	p.N1916N	HEATR5B_ENST00000354531.2_Silent_p.N1827N	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1916							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AAAGGGCACGATTGGAATGCT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	110	108			NA	NA	2		NA											NA				37215952		2203	4300	6503	SO:0001819	synonymous_variant			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869	54497	54497			29273	protein-coding gene	gene with protein product					NA	10718198	Standard	NM_019024	XM_005264379	NA	Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.5748T>C	2.37:g.37215952A>G		NA	B5MDU8|Q7Z3B2|Q9NVL7	37	CCDS33181.1																																																																																			HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325492.1		-	ENST00000233099.5	Silent	SNP	2 : 37215952 - 37215952 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	485	102
SYT3	84258	broad.mit.edu	37	19	51128446	51128446	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51128446G>A	ENST00000338916.4	-	7	2313	c.1680C>T	c.(1678-1680)ccC>ccT	p.P560P	SYT3_ENST00000593901.1_Silent_p.P560P|SYT3_ENST00000600079.1_Silent_p.P560P|SYT3_ENST00000544769.1_Silent_p.P560P	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	560						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		AGTGCTCCACGGGCTTGCGGG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	35	37			NA	NA	19		NA											NA				51128446		2203	4300	6503	SO:0001819	synonymous_variant			AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023	84258	84258		Synaptotagmins	11511	protein-coding gene	gene with protein product		600327			NA	7749232	Standard	NM_032298	NM_032298	NA	Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.1680C>T	19.37:g.51128446G>A		NA	Q8N5Z1|Q8N640	37	CCDS12798.1																																																																																			SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464910.1		-	ENST00000338916.4	Silent	SNP	19 : 51128446 - 51128446 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	97	14
LGSN	51557	broad.mit.edu	37	6	64004878	64004878	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64004878C>A	ENST00000370657.4	-	2	136	c.103G>T	c.(103-105)Gtc>Ttc	p.V35F	LGSN_ENST00000370658.5_Missense_Mutation_p.V35F			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	35					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	GGTTTAGTGACTTTCTTCCTT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													273	247	256			NA	NA	6		NA											NA				64004878		2203	4300	6503	SO:0001583	missense			AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166	51557	51557			21016	protein-coding gene	gene with protein product		611470	glutamate-ammonia ligase (glutamine synthetase) domain containing 1	GLULD1	NA	12107412	Standard	NM_016571	NM_016571	NA	Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.103G>T	6.37:g.64004878C>A	ENSP00000359691:p.Val35Phe	NA	A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	37	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.741295	0.30865	.	.	ENSG00000146166	ENST00000370658;ENST00000370657	T;T	0.31510	1.49;1.58	4.71	3.81	0.43845	.	0.617997	0.16143	N	0.227638	T	0.31734	0.0806	M	0.61703	1.905	0.30343	N	0.785487	D;P;B	0.63046	0.992;0.828;0.435	P;P;B	0.59487	0.858;0.576;0.303	T	0.13019	-1.0525	10	0.72032	D	0.01	-5.3792	9.4806	0.38898	0.0:0.8938:0.0:0.1062	.	35;35;35	Q5TDP6-3;Q5TDP6-2;Q5TDP6	.;.;LGSN_HUMAN	F	35	ENSP00000359692:V35F;ENSP00000359691:V35F	ENSP00000359691:V35F	V	-	1	0	LGSN	64062837	0.993000	0.37304	0.991000	0.47740	0.050000	0.14768	1.937000	0.40193	1.041000	0.40125	0.591000	0.81541	GTC	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041076.2		-	ENST00000370657.4	Missense_Mutation	SNP	6 : 64004878 - 64004878 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	432	65
PXDN	7837	broad.mit.edu	37	2	1652088	1652088	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1652088G>A	ENST00000252804.4	-	17	3514	c.3464C>T	c.(3463-3465)gCg>gTg	p.A1155V		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1155					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GTTGATGGCCGCCAGGTCCAG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	74	70			NA	NA	2		NA											NA				1652088		2056	4219	6275	SO:0001583	missense			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508	7837	7837		Immunoglobulin superfamily / I-set domain containing	14966	protein-coding gene	gene with protein product		605158			NA	10441517, 9039502	Standard	XM_056455	XM_005264707	NA	Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3464C>T	2.37:g.1652088G>A	ENSP00000252804:p.Ala1155Val	NA	A8QM65|D6W4Y0|Q4KMG2	37	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030543	0.93575	.	.	ENSG00000130508	ENST00000252804	T	0.71698	-0.59	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.82609	0.5074	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81395	-0.0952	10	0.45353	T	0.12	-31.4364	19.6424	0.95763	0.0:0.0:1.0:0.0	.	1155	Q92626	PXDN_HUMAN	V	1155	ENSP00000252804:A1155V	ENSP00000252804:A1155V	A	-	2	0	PXDN	1631095	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	9.759000	0.98931	2.645000	0.89757	0.650000	0.86243	GCG	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322505.1		-	ENST00000252804.4	Missense_Mutation	SNP	2 : 1652088 - 1652088 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	709	53
ARHGAP15	55843	broad.mit.edu	37	2	143974006	143974006	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:143974006G>A	ENST00000409869.1	+	5	465	c.288G>A	c.(286-288)aaG>aaA	p.K96K	ARHGAP15_ENST00000295095.6_Silent_p.K96K			Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	96	PH.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		ATGGAGGAAAGAAACTAAGGT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	80	79			NA	NA	2		NA											NA				143974006		2203	4300	6503	SO:0001819	synonymous_variant			AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884	55843	55843		Rho GTPase activating proteins, Pleckstrin homology (PH) domain containing	21030	protein-coding gene	gene with protein product		610578			NA	12650940, 11042152	Standard	NM_018460	NM_018460	NA	Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000409869.1:c.288G>A	2.37:g.143974006G>A		NA	Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	37																																																																																				ARHGAP15-002	PUTATIVE	not_organism_supported|not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000332175.1		+	ENST00000409869.1	Silent	SNP	2 : 143974006 - 143974006 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	276	23
MET	4233	broad.mit.edu	37	7	116340022	116340022	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116340022C>A	ENST00000397752.3	+	2	1084	c.884C>A	c.(883-885)cCt>cAt	p.P295H	MET_ENST00000318493.6_Missense_Mutation_p.P295H|MET_ENST00000436117.2_Missense_Mutation_p.P295H	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	MET proto-oncogene, receptor tyrosine kinase	295	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ATGGAAATGCCTCTGGAGTGT	0.428		NA	Mis		papillary renal, head-neck squamous cell 	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0													84	79	81			NA	NA	7		NA											NA				116340022		1844	4092	5936	SO:0001583	missense	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	NA	4233	2.7.10.1		7029	protein-coding gene	gene with protein product	hepatocyte growth factor receptor	164860	met proto-oncogene		NA	1846706, 1611909	Standard		NM_001127500	NA	Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000397752.3:c.884C>A	7.37:g.116340022C>A	ENSP00000380860:p.Pro295His	NA	O60366|Q12875|Q9UDX7|Q9UPL8	37	CCDS43636.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713994	0.30413	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.10860	2.83;2.83;2.83	6.17	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.100208	0.64402	D	0.000001	T	0.42494	0.1205	M	0.90595	3.13	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;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;D;D;D;D	0.97110	0.954;1.0;0.998;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.55029	-0.8204	10	0.72032	D	0.01	.	17.0009	0.86381	0.1285:0.8715:0.0:0.0	.	295;295;295;295;295;295;295;295;295;295;295;295;295	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;B5A940;P08581-2;B5A942;P08581;A1L467	.;.;.;.;.;.;.;.;.;.;.;MET_HUMAN;.	H	295	ENSP00000380860:P295H;ENSP00000317272:P295H;ENSP00000410980:P295H	ENSP00000317272:P295H	P	+	2	0	MET	116127258	1.000000	0.71417	0.998000	0.56505	0.010000	0.07245	5.637000	0.67854	1.606000	0.50161	-0.182000	0.12963	CCT	MET-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000141947.3		+	ENST00000397752.3	Missense_Mutation	SNP	7 : 116340022 - 116340022 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	559	103
CACNA2D3	55799	broad.mit.edu	37	3	54420803	54420803	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:54420803T>C	ENST00000474759.1	+	4	429		c.e4+2		CACNA2D3_ENST00000490478.1_Splice_Site|CACNA2D3_ENST00000288197.5_Splice_Site|CACNA2D3_ENST00000415676.2_Splice_Site	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	NA						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GACTTACAGGTAACTGATTAT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	91	91			NA	NA	3		NA											NA				54420803		1870	4109	5979	SO:0001630	splice_region_variant			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445	55799	55799		Calcium channel subunits	15460	protein-coding gene	gene with protein product		606399			NA	11245980	Standard		XM_005265318	NA	Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.381+2T>C	3.37:g.54420803T>C		NA	B2RPL6|Q9NY16|Q9NY18	37	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.049840	0.75846	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000492460;ENST00000398624;ENST00000438476	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.203	0.54337	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA2D3	54395843	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	4.994000	0.63901	2.199000	0.70637	0.533000	0.62120	.	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351402.1	Intron	+	ENST00000474759.1	Splice_Site	SNP	3 : 54420803 - 54420803 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	81	22
SELP	6403	broad.mit.edu	37	1	169578832	169578832	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169578832G>A	ENST00000263686.6	-	8	1280	c.1243C>T	c.(1243-1245)Cgc>Tgc	p.R415C	SELP_ENST00000367794.2_Missense_Mutation_p.R353C|SELP_ENST00000367791.2_Intron|SELP_ENST00000367792.2_Missense_Mutation_p.R353C|SELP_ENST00000458599.2_Missense_Mutation_p.R353C|SELP_ENST00000367786.2_Missense_Mutation_p.R353C|SELP_ENST00000367793.2_Missense_Mutation_p.R353C|SELP_ENST00000367788.2_Missense_Mutation_p.R353C	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	415	Sushi 4.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TCAGCACAGCGGAAGCTACAG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	111	119			NA	NA	1		NA											NA				169578832		2203	4300	6503	SO:0001583	missense			BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175	6403	6403		CD molecules	10721	protein-coding gene	gene with protein product		173610	selectin P (granule membrane protein 140kD, antigen CD62)	GRMP	NA	1375831	Standard	NM_003005	NM_003005	NA	Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1243C>T	1.37:g.169578832G>A	ENSP00000263686:p.Arg415Cys	NA	Q5R344|Q8IVD1	37	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.57|13.57	2.276591|2.276591	0.40294|0.40294	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000446728|ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367788;ENST00000367786;ENST00000458599	.|T;T;T;T;T;T	.|0.65916	.|-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.74|5.74	3.86|3.86	0.44501|0.44501	.|Complement control module (2);Sushi/SCR/CCP (3);	.|1.827990	.|0.02349	.|N	.|0.075696	T|T	0.71230|0.71230	0.3315|0.3315	M|M	0.83774|0.83774	2.66|2.66	0.44500|0.44500	D|D	0.997442|0.997442	.|D;D;D	.|0.71674	.|0.997;0.997;0.998	.|D;P;P	.|0.63192	.|0.912;0.901;0.799	T|T	0.56890|0.56890	-0.7904|-0.7904	5|10	.|0.44086	.|T	.|0.13	-0.2348|-0.2348	8.3896|8.3896	0.32520|0.32520	0.0784:0.0:0.7683:0.1533|0.0784:0.0:0.7683:0.1533	.|.	.|415;415;415	.|Q6NUL9;P16109;G3V1U2	.|.;LYAM3_HUMAN;.	L|C	352|415;414;353;415;415;353;353;353;353;353;338	.|ENSP00000263686:R415C;ENSP00000356767:R353C;ENSP00000356768:R353C;ENSP00000356766:R353C;ENSP00000356762:R353C;ENSP00000356760:R353C	.|ENSP00000263686:R415C	P|R	-|-	2|1	0|0	SELP|SELP	167845456|167845456	0.000000|0.000000	0.05858|0.05858	0.543000|0.543000	0.28128|0.28128	0.023000|0.023000	0.10783|0.10783	-0.246000|-0.246000	0.08878|0.08878	0.764000|0.764000	0.33197|0.33197	0.650000|0.650000	0.86243|0.86243	CCG|CGC	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083916.4		-	ENST00000263686.6	Missense_Mutation	SNP	1 : 169578832 - 169578832 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	52
SACS	26278	broad.mit.edu	37	13	23932601	23932601	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23932601G>A	ENST00000382292.3	-	6	750	c.477C>T	c.(475-477)taC>taT	p.Y159Y	SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382298.3_Silent_p.Y159Y			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	159					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCGCGTTGTTGTACACATAGA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	115	115			NA	NA	13		NA											NA				23932601		2203	4300	6503	SO:0001819	synonymous_variant			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835	26278	26278		Heat shock proteins / DNAJ (HSP40)	10519	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 138	604490	spastic ataxia of Charlevoix-Saguenay (sacsin)		NA	10610707, 15057823, 21726565	Standard	NM_014363	NM_001278055	NA	Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.477C>T	13.37:g.23932601G>A		NA	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	7.069	0.567935	0.13560	.	.	ENSG00000151835	ENST00000455470	.	.	.	5.74	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1814	0.65577	0.0712:0.0:0.9288:0.0	.	.	.	.	X	59	.	.	Q	-	1	0	SACS	22830601	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	3.463000	0.53050	2.715000	0.92844	0.655000	0.94253	CAA	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044148.3		-	ENST00000382292.3	Silent	SNP	13 : 23932601 - 23932601 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	564	82
ELMO3	79767	broad.mit.edu	37	16	67233304	67233304	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67233304C>T	ENST00000360833.1	+	1	291	c.234C>T	c.(232-234)gaC>gaT	p.D78D	ELMO3_ENST00000393997.2_Silent_p.D78D			Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	25					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TCCAGCTGGACCAGGTCACCC	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	34	32			NA	NA	16		NA											NA				67233304		2061	4184	6245	SO:0001819	synonymous_variant				CCDS10833.2	16q22.1	2010-03-18	2006-01-20		ENSG00000102890	ENSG00000102890	79767	79767		Engulfment and cell motility proteins	17289	protein-coding gene	gene with protein product		606422	engulfment and cell motility 3 (ced-12 homolog, C. elegans)		NA	11595183	Standard	NM_024712	NM_024712	NA	Approved	FLJ13824, CED12, ELMO-3, CED-12	uc002esa.3	Q96BJ8	OTTHUMG00000133570	ENST00000360833.1:c.234C>T	16.37:g.67233304C>T		NA	B4DV86|Q9H8A5	37																																																																																				ELMO3-001	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000257667.2		+	ENST00000360833.1	Silent	SNP	16 : 67233304 - 67233304 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	345	40
WDR49	151790	broad.mit.edu	37	3	167246892	167246892	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167246892C>T	ENST00000479765.1	-	9	1798				WDR49_ENST00000476376.1_Missense_Mutation_p.R258Q|WDR49_ENST00000453925.2_Missense_Mutation_p.R497Q|WDR49_ENST00000308378.3_Missense_Mutation_p.R433Q			Q8IV35	WDR49_HUMAN	WD repeat domain 49	NA										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GGTAAGGTATCGATTCATCTT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	92	93			NA	NA	3		NA											NA				167246892		2203	4300	6503	SO:0001627	intron_variant			AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776	151790	151790		WD repeat domain containing	26587	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_178824	NM_178824	NA	Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000479765.1:c.1554+37725G>A	3.37:g.167246892C>T		NA	Q8N297	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.267|0.267	-0.995346|-0.995346	0.02145|0.02145	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000472600;ENST00000493061|ENST00000308378;ENST00000476376;ENST00000453925	.|T;T;T	.|0.41400	.|1.55;1.29;1.0	5.52|5.52	-3.01|-3.01	0.05463|0.05463	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|1.026120	.|0.07712	.|N	.|0.942286	T|T	0.21468|0.21468	0.0517|0.0517	N|N	0.16201|0.16201	0.385|0.385	0.18873|0.18873	N|N	0.999984|0.999984	.|B;B	.|0.18166	.|0.026;0.005	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.35748|0.35748	-0.9776|-0.9776	5|10	.|0.02654	.|T	.|1	.|.	13.1587|13.1587	0.59533|0.59533	0.0:0.2771:0.0:0.7229|0.0:0.2771:0.0:0.7229	.|.	.|497;433	.|E7EQK3;Q8IV35	.|.;WDR49_HUMAN	N|Q	509;71|433;258;497	.|ENSP00000311343:R433Q;ENSP00000420508:R258Q;ENSP00000410863:R497Q	.|ENSP00000311343:R433Q	D|R	-|-	1|2	0|0	WDR49|WDR49	168729586|168729586	0.671000|0.671000	0.27521|0.27521	0.106000|0.106000	0.21319|0.21319	0.317000|0.317000	0.28152|0.28152	-0.169000|-0.169000	0.09911|0.09911	-0.473000|-0.473000	0.06871|0.06871	-0.253000|-0.253000	0.11424|0.11424	GAT|CGA	WDR49-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000350593.2		-	ENST00000479765.1	Intron	SNP	3 : 167246892 - 167246892 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	241	55
KRTAP11-1	337880	broad.mit.edu	37	21	32253481	32253481	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32253481G>A	ENST00000332378.4	-	1	393	c.363C>T	c.(361-363)tgC>tgT	p.C121C		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	121	4 X 10 AA approximate repeats.					keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						CCACTGGTTGGCAGACACTGG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	63	63			NA	NA	21		NA											NA				32253481		2203	4300	6503	SO:0001819	synonymous_variant			AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591	NA	337880		Keratin associated proteins	18922	protein-coding gene	gene with protein product		600064			NA	12359730	Standard		NM_175858	NA	Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.363C>T	21.37:g.32253481G>A		NA	A1L4I8	37	CCDS13608.1																																																																																			KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128225.1		-	ENST00000332378.4	Silent	SNP	21 : 32253481 - 32253481 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	398	92
ADAR	103	broad.mit.edu	37	1	154574527	154574527	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154574527G>A	ENST00000368474.4	-	2	790	c.591C>T	c.(589-591)atC>atT	p.I197I	ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000292205.5_Silent_p.I240I	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	197					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	p.I197I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TGGAGACCGCGATTTTCCACA	0.522		NA											G	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	5e-04	SNP								NA				1	Substitution - coding silent(1)	prostate(1)											108	114	112			NA	NA	1		NA											NA				154574527		2203	4300	6503	SO:0001819	synonymous_variant			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	103	103	3.5.4.-		225	protein-coding gene	gene with protein product		146920	interferon-induced protein 4	IFI4, G1P1	NA	7972084	Standard	NM_001111	NM_001111	NA	Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.591C>T	1.37:g.154574527G>A		NA	B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	37	CCDS1071.1																																																																																			ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090691.2		-	ENST00000368474.4	Silent	SNP	1 : 154574527 - 154574527 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	895	216
LRRC7	57554	broad.mit.edu	37	1	70300475	70300475	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70300475C>A	ENST00000310961.5	+	7	832	c.414C>A	c.(412-414)ggC>ggA	p.G138G	LRRC7_ENST00000035383.5_Silent_p.G133G|LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Silent_p.G171G			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	133						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TACCTGATGGCTTCACACAGC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	142	146			NA	NA	1		NA											NA				70300475		2203	4300	6503	SO:0001819	synonymous_variant				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122	57554	57554			18531	protein-coding gene	gene with protein product		614453			NA	12525888	Standard	NM_020794	NM_020794	NA	Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000310961.5:c.414C>A	1.37:g.70300475C>A		NA	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	37																																																																																				LRRC7-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000131262.2		+	ENST00000310961.5	Silent	SNP	1 : 70300475 - 70300475 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	507	50
NRCAM	4897	broad.mit.edu	37	7	107831702	107831702	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107831702A>C	ENST00000379024.4	-	18	2281	c.1872T>G	c.(1870-1872)gtT>gtG	p.V624V	NRCAM_ENST00000425651.2_Silent_p.V643V|NRCAM_ENST00000413765.2_Silent_p.V624V|NRCAM_ENST00000379022.4_Silent_p.V643V|NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000379028.3_Silent_p.V643V	NM_001193582.1|NM_001193583.1|NM_001193584.1	NP_001180511.1|NP_001180512.1|NP_001180513.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	643	Ig-like 6.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GTTTACCGTAAACGGGAGCTG	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	60	60			NA	NA	7		NA											NA				107831702		1825	4081	5906	SO:0001819	synonymous_variant				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129	4897	4897		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	7994	protein-coding gene	gene with protein product	NgCAM-related cell adhesion molecule	601581			NA	8812479	Standard	NM_001037132	NM_001037132	NA	Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000379024.4:c.1872T>G	7.37:g.107831702A>C		NA	A4D0S3|O15051|O15179|Q9UHI3|Q9UHI4	37	CCDS55153.1																																																																																			NRCAM-001	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337863.2		-	ENST00000379024.4	Silent	SNP	7 : 107831702 - 107831702 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	72	10
TGFBRAP1	9392	broad.mit.edu	37	2	105924245	105924245	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:105924245C>T	ENST00000393359.2	-	2	940	c.514G>A	c.(514-516)Gct>Act	p.A172T	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.A172T			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	172	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						ACAGCCACAGCGAGGGGCTGC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(183;794 2019 9730 21801 48859)							NA				0													113	114	113			NA	NA	2		NA											NA				105924245		2203	4300	6503	SO:0001583	missense			AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966	9392	9392			16836	protein-coding gene	gene with protein product		606237			NA	9545258, 11278302	Standard	NM_004257	NM_001142621	NA	Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.514G>A	2.37:g.105924245C>T	ENSP00000377027:p.Ala172Thr	NA	A8K5R7|D3DVJ8|O60466	37	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952985	0.73902	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	T;T	0.04406	3.63;3.63	5.32	5.32	0.75619	Citron-like (2);	0.053757	0.64402	D	0.000001	T	0.06554	0.0168	L	0.47716	1.5	0.80722	D	1	P	0.47841	0.901	B	0.40677	0.337	T	0.48801	-0.9003	10	0.10636	T	0.68	-20.6955	19.1899	0.93660	0.0:1.0:0.0:0.0	.	172	Q8WUH2	TGFA1_HUMAN	T	172	ENSP00000377027:A172T;ENSP00000258449:A172T	ENSP00000258449:A172T	A	-	1	0	TGFBRAP1	105290677	1.000000	0.71417	0.590000	0.28732	0.869000	0.49853	7.313000	0.78978	2.760000	0.94817	0.655000	0.94253	GCT	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253354.2		-	ENST00000393359.2	Missense_Mutation	SNP	2 : 105924245 - 105924245 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1120	186
SMUG1	23583	broad.mit.edu	37	12	54575966	54575966	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54575966G>A	ENST00000508394.2	-	3	789	c.727C>T	c.(727-729)Cgt>Tgt	p.R243C	SMUG1_ENST00000401977.2_Missense_Mutation_p.R243C|SMUG1_ENST00000513838.1_Intron|SMUG1_ENST00000506595.1_Intron|SMUG1_ENST00000505128.1_3'UTR|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000514685.1_Intron|SMUG1_ENST00000337581.3_Missense_Mutation_p.R243C|SMUG1_ENST00000514196.1_Intron|SMUG1_ENST00000243112.5_Intron	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	243					depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity			kidney(1)|large_intestine(4)|lung(1)	6						TGTGGGTTACGGGGAGAGGGA	0.642		NA						Base excision repair (BER), DNA glycosylases						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	63	62			NA	NA	12		NA											NA				54575966		2203	4300	6503	SO:0001583	missense			AF125182	CCDS8874.1, CCDS58239.1	12q13.13	2013-10-28			ENSG00000123415	ENSG00000123415	23583	23583			17148	protein-coding gene	gene with protein product		607753			NA	10074426, 11526119	Standard	NM_014311	NM_014311	NA	Approved	UNG3, FDG, HMUDG	uc009znf.2	Q53HV7	OTTHUMG00000160068	ENST00000508394.2:c.727C>T	12.37:g.54575966G>A	ENSP00000424191:p.Arg243Cys	NA	A8K2K9|O95862|Q0D2M0|Q8NB71|Q9BWC8	37	CCDS8874.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459475	0.43736	.	.	ENSG00000123415	ENST00000337581;ENST00000508394;ENST00000401977	T;T;T	0.56444	0.46;0.46;0.46	4.73	3.84	0.44239	Uracil-DNA glycosylase-like (3);	0.048032	0.85682	N	0.000000	T	0.68357	0.2992	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.65987	0.94	T	0.68868	-0.5295	10	0.49607	T	0.09	.	7.3843	0.26874	0.0874:0.0:0.7468:0.1658	.	243	Q53HV7	SMUG1_HUMAN	C	243	ENSP00000338606:R243C;ENSP00000424191:R243C;ENSP00000384828:R243C	ENSP00000338606:R243C	R	-	1	0	SMUG1	52862233	1.000000	0.71417	0.362000	0.25862	0.853000	0.48598	4.942000	0.63547	1.121000	0.41925	-0.136000	0.14681	CGT	SMUG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359074.3		-	ENST00000508394.2	Missense_Mutation	SNP	12 : 54575966 - 54575966 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	624	96
KAT2A	2648	broad.mit.edu	37	17	40266508	40266508	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40266508G>A	ENST00000225916.5	-	14	2187	c.2134C>T	c.(2134-2136)Cga>Tga	p.R712*		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	712					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CCCTGCTTACGAATGCCAGGA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													199	192	194			NA	NA	17		NA											NA				40266508		2203	4300	6503	SO:0001630	splice_region_variant			AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773	2648	2648		Chromatin-modifying enzymes / K-acetyltransferases	4201	protein-coding gene	gene with protein product		602301	GCN5 general control of amino-acid synthesis 5-like 2 (yeast)	GCN5L2	NA	8552087	Standard	NM_021078	NM_021078	NA	Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.2134+1C>T	17.37:g.40266508G>A		NA	Q8N1A2|Q9UCW1	37	CCDS11417.1	.	.	.	.	.	.	.	.	.	.	G	36	5.631659	0.96682	.	.	ENSG00000108773	ENST00000225916	.	.	.	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.445	17.8076	0.88606	0.0:0.0:1.0:0.0	.	.	.	.	X	712	.	.	R	-	1	2	KAT2A	37520034	0.995000	0.38212	0.999000	0.59377	0.384000	0.30261	1.883000	0.39658	2.192000	0.70111	0.462000	0.41574	CGA	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257458.1	Nonsense_Mutation	-	ENST00000225916.5	Splice_Site	SNP	17 : 40266508 - 40266508 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1154	157
ZNF704	619279	broad.mit.edu	37	8	81599496	81599496	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:81599496G>A	ENST00000327835.3	-	4	754	c.523C>T	c.(523-525)Ctg>Ttg	p.L175L	ZNF704_ENST00000520336.1_5'UTR	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	175						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TCGAAGAGCAGGTTGCTGGCC	0.632		NA									OREG0018841	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	52	52			NA	NA	8		NA											NA				81599496		2164	4263	6427	SO:0001819	synonymous_variant			AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684	619279	619279			32291	protein-coding gene	gene with protein product					NA		Standard	NM_001033723	NM_001033723	NA	Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.523C>T	8.37:g.81599496G>A		1207	B2RNE6|B9EGW6	37	CCDS34913.1																																																																																			ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379964.2		-	ENST00000327835.3	Silent	SNP	8 : 81599496 - 81599496 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	542	55
MAP10	54627	broad.mit.edu	37	1	232941539	232941539	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232941539C>A	ENST00000418460.1	+	1	897	c.770C>A	c.(769-771)aCc>aAc	p.T257N		NM_019090.2	NP_061963.2			microtubule-associated protein 10	NA											NA						CCGCTTGCCACCTTGCTGCTG	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													8	9	9			NA	NA	1		NA											NA				232941539		1912	4065	5977	SO:0001583	missense			AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916	54627	54627			29265	protein-coding gene	gene with protein product	microtubule regulator 120 KDa		KIAA1383	KIAA1383	NA	23264731	Standard	NM_019090	NM_019090	NA	Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.770C>A	1.37:g.232941539C>A	ENSP00000403208:p.Thr257Asn	NA		37	CCDS44334.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220248	0.58560	.	.	ENSG00000212916	ENST00000418460	.	.	.	5.25	3.38	0.38709	.	0.107299	0.35207	U	0.003377	T	0.46171	0.1379	M	0.63428	1.95	0.23546	N	0.997443	D	0.55172	0.97	P	0.49708	0.62	T	0.38693	-0.9649	9	0.62326	D	0.03	0.0423	8.8777	0.35356	0.0:0.7729:0.0:0.2271	.	115	Q9P2G4	K1383_HUMAN	N	257	.	ENSP00000403208:T257N	T	+	2	0	KIAA1383	231008162	0.013000	0.17824	0.086000	0.20670	0.233000	0.25261	0.438000	0.21559	0.709000	0.31976	0.555000	0.69702	ACC	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092317.3		+	ENST00000418460.1	Missense_Mutation	SNP	1 : 232941539 - 232941539 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	111	26
HIST1H3J	8356	broad.mit.edu	37	6	27858327	27858327	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27858327C>T	ENST00000359303.2	-	1	243	c.244G>A	c.(244-246)Gac>Aac	p.D82N		NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j	82					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						AAACGAAGGTCGGTTTTGAAA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	59	58			NA	NA	6		NA											NA				27858327		2203	4300	6503	SO:0001583	missense			Z83737	CCDS4638.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197153	ENSG00000197153	8356	8356		Histones / Replication-dependent	4774	protein-coding gene	gene with protein product		602817	H3 histone family, member J, histone 1, H3j	H3FJ	NA	9439656, 12408966	Standard	NM_003535	NM_003535	NA	Approved	H3/j	uc003nka.3	P68431	OTTHUMG00000016185	ENST00000359303.2:c.244G>A	6.37:g.27858327C>T	ENSP00000352252:p.Asp82Asn	NA	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	37	CCDS4638.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802455	0.50315	.	.	ENSG00000197153	ENST00000359303	T	0.47869	0.83	3.96	3.96	0.45880	.	.	.	.	.	T	0.56717	0.2004	.	.	.	0.49389	D	0.999786	.	.	.	.	.	.	T	0.62473	-0.6847	6	0.87932	D	0	.	15.8159	0.78599	0.0:1.0:0.0:0.0	.	.	.	.	N	82	ENSP00000352252:D82N	ENSP00000352252:D82N	D	-	1	0	HIST1H3J	27966306	1.000000	0.71417	0.996000	0.52242	0.057000	0.15508	7.304000	0.78882	2.503000	0.84419	0.655000	0.94253	GAC	HIST1H3J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043453.2		-	ENST00000359303.2	Missense_Mutation	SNP	6 : 27858327 - 27858327 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	41
ZBTB11	27107	broad.mit.edu	37	3	101373562	101373562	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101373562G>T	ENST00000312938.4	-	8	2875	c.2295C>A	c.(2293-2295)ggC>ggA	p.G765G		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	765					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TACAATGATAGCCTCGAACCT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	123	122			NA	NA	3		NA											NA				101373562		2203	4300	6503	SO:0001819	synonymous_variant			U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422	27107	27107		-, BTB/POZ domain containing, Zinc fingers, C2H2-type	16740	protein-coding gene	gene with protein product					NA		Standard	NM_014415	NM_014415	NA	Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.2295C>A	3.37:g.101373562G>T		NA	Q2NKP9	37	CCDS2943.1																																																																																			ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353441.2		-	ENST00000312938.4	Silent	SNP	3 : 101373562 - 101373562 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	604	100
GOLPH3	64083	broad.mit.edu	37	5	32126345	32126345	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32126345C>T	ENST00000265070.6	-	4	1185	c.870G>A	c.(868-870)tgG>tgA	p.W290*		NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	290					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						CCACCACCGCCCACAGAACCT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	111	112			NA	NA	5		NA											NA				32126345		2203	4300	6503	SO:0001587	stop_gained			AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384	64083	64083			15452	protein-coding gene	gene with protein product	golgi peripheral membrane protein 1, 34 kDa, golgi protein, coat-protein, golgi-associated protein	612207			NA	11042173, 16263763	Standard	NM_022130	NM_022130	NA	Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.870G>A	5.37:g.32126345C>T	ENSP00000265070:p.Trp290*	NA	Q9UIW5	37	CCDS3896.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.884130	0.72410	.	.	ENSG00000113384	ENST00000265070;ENST00000542582	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	.	.	.	X	290;273	.	ENSP00000265070:W290X	W	-	3	0	GOLPH3	32162102	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	7.440000	0.80464	2.894000	0.99253	0.655000	0.94253	TGG	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207363.2		-	ENST00000265070.6	Nonsense_Mutation	SNP	5 : 32126345 - 32126345 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	803	137
SMO	6608	broad.mit.edu	37	7	128852143	128852143	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128852143C>T	ENST00000249373.3	+	12	2495	c.2215C>T	c.(2215-2217)Cca>Tca	p.P739S	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	739					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CCCATTCTGCCCAGAGCCCAG	0.677		NA	Mis		skin basal cell									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	0													35	33	34			NA	NA	7		NA											NA				128852143		2203	4300	6503	SO:0001583	missense			U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602	6608	6608		GPCR / Class F : Frizzled receptors	11119	protein-coding gene	gene with protein product	frizzled family member 11	601500	smoothened (Drosophila) homolog, smoothened homolog (Drosophila), smoothened, seven transmembrane spanning receptor, smoothened, frizzled family receptor	SMOH	NA	9628830	Standard	NM_005631	NM_005631	NA	Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.2215C>T	7.37:g.128852143C>T	ENSP00000249373:p.Pro739Ser	NA		37	CCDS5811.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473417	0.63737	.	.	ENSG00000128602	ENST00000249373	T	0.78595	-1.19	5.41	5.41	0.78517	.	0.214510	0.49916	D	0.000135	T	0.61800	0.2376	N	0.14661	0.345	0.53005	D	0.999968	P	0.39480	0.675	B	0.33960	0.173	T	0.64799	-0.6322	10	0.33940	T	0.23	.	16.3396	0.83078	0.0:1.0:0.0:0.0	.	739	Q99835	SMO_HUMAN	S	739	ENSP00000249373:P739S	ENSP00000249373:P739S	P	+	1	0	SMO	128639379	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	6.314000	0.72848	2.520000	0.84964	0.591000	0.81541	CCA	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350986.1		+	ENST00000249373.3	Missense_Mutation	SNP	7 : 128852143 - 128852143 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	206	19
KIAA0947	0	broad.mit.edu	37	5	5463617	5463617	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5463617C>T	ENST00000296564.7	+	13	4392	c.4170C>T	c.(4168-4170)gcC>gcT	p.A1390A		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN		1390										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						ACTGCGAGGCCGAAACAACAT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	33	33			NA	NA	5		NA											NA				5463617		1997	4167	6164	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000296564.7:c.4170C>T	5.37:g.5463617C>T		NA	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	37	CCDS47187.1																																																																																			KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365575.1		+	ENST00000296564.7	Silent	SNP	5 : 5463617 - 5463617 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	92	17
SFTPD	6441	broad.mit.edu	37	10	81702155	81702155	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81702155G>T	ENST00000372292.3	-	4	462	c.422C>A	c.(421-423)gCt>gAt	p.A141D		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	141	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TTTGGGCCCAGCTTCTCCTTT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	79	82			NA	NA	10		NA											NA				81702155		2203	4300	6503	SO:0001583	missense			L05485	CCDS7362.1	10q22.2-q23.1	2012-11-02	2008-08-26		ENSG00000133661	ENSG00000133661	6441	6441		Collectins	10803	protein-coding gene	gene with protein product		178635	surfactant, pulmonary-associated protein D	SFTP4	NA	1898081, 1339284	Standard		NM_003019	NA	Approved	SP-D, COLEC7	uc001kbh.3	P35247	OTTHUMG00000018590	ENST00000372292.3:c.422C>A	10.37:g.81702155G>T	ENSP00000361366:p.Ala141Asp	NA	Q5T0M3|Q6FH08|Q86YK9|Q8TCD8|Q9UCJ2|Q9UCJ3	37	CCDS7362.1	.	.	.	.	.	.	.	.	.	.	g	15.58	2.875673	0.51695	.	.	ENSG00000133661	ENST00000372292;ENST00000444384	T;T	0.55234	0.53;0.53	5.02	5.02	0.67125	.	0.705366	0.12727	N	0.444178	T	0.41166	0.1147	L	0.28400	0.85	0.39602	D	0.969755	P	0.40476	0.718	B	0.39379	0.298	T	0.17592	-1.0364	10	0.12103	T	0.63	0.1107	13.8133	0.63276	0.0:0.0:1.0:0.0	.	141	P35247	SFTPD_HUMAN	D	141;154	ENSP00000361366:A141D;ENSP00000394325:A154D	ENSP00000361366:A141D	A	-	2	0	SFTPD	81692135	0.071000	0.21146	0.996000	0.52242	0.865000	0.49528	0.992000	0.29667	2.311000	0.77944	0.457000	0.33378	GCT	SFTPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049011.1		-	ENST00000372292.3	Missense_Mutation	SNP	10 : 81702155 - 81702155 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	345	65
RP4-559A3.7	0	broad.mit.edu	37	1	226074781	226074781	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226074781G>A	ENST00000432920.2	-	8	1239	c.1072C>T	c.(1072-1074)Cga>Tga	p.R358*	LEFTY1_ENST00000272134.5_Silent_p.G249G						NA											NA						GGTCACAGTCGCCCTGAGCTC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	20	19			NA	NA	1		NA											NA				226074781		2203	4300	6503	SO:0001587	stop_gained											NA	NA			NA							NA					NA						ENST00000432920.2:c.1072C>T	1.37:g.226074781G>A	ENSP00000414068:p.Arg358*	NA		37		.	.	.	.	.	.	.	.	.	.	G	17.73	3.461120	0.63513	.	.	ENSG00000255835	ENST00000432920	.	.	.	4.33	-4.54	0.03452	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.5295	0.5159	0.00603	0.3469:0.1898:0.2604:0.2029	.	.	.	.	X	358	.	ENSP00000414068:R358X	R	-	1	2	RP4-559A3.7	224141404	0.329000	0.24696	0.006000	0.13384	0.313000	0.28021	-0.599000	0.05700	-1.159000	0.02807	-1.800000	0.00619	CGA	RP4-559A3.7-001	PUTATIVE	basic|appris_principal|readthrough_transcript	protein_coding	NA	protein_coding	OTTHUMT00000400503.1		-	ENST00000432920.2	Nonsense_Mutation	SNP	1 : 226074781 - 226074781 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	202	35
DNAH2	146754	broad.mit.edu	37	17	7699832	7699832	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7699832G>T	ENST00000572933.1	+	50	9185	c.7725G>T	c.(7723-7725)caG>caT	p.Q2575H	DNAH2_ENST00000389173.2_Missense_Mutation_p.Q2575H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2575	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGAAGCTTCAGGACTTTGAGG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	100	107			NA	NA	17		NA											NA				7699832		2203	4300	6503	SO:0001583	missense			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914	146754	146754		Axonemal dyneins	2948	protein-coding gene	gene with protein product		603333	dynein, axonemal, heavy polypeptide 2, dynein heavy chain domain 3	DNHD3	NA	9256245	Standard	NM_020877	XM_005256470	NA	Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.7725G>T	17.37:g.7699832G>T	ENSP00000458355:p.Gln2575His	NA	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.832290	0.50845	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.40476	1.03	5.4	4.43	0.53597	.	0.131736	0.52532	D	0.000076	T	0.42268	0.1195	L	0.57536	1.79	0.80722	D	1	B	0.13594	0.008	B	0.25405	0.06	T	0.37709	-0.9694	10	0.51188	T	0.08	.	13.2661	0.60135	0.0773:0.0:0.9227:0.0	.	2575	Q9P225	DYH2_HUMAN	H	2575	ENSP00000373825:Q2575H	ENSP00000353818:Q2575H	Q	+	3	2	DNAH2	7640557	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.487000	0.60293	1.508000	0.48769	0.609000	0.83330	CAG	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000440241.1		+	ENST00000572933.1	Missense_Mutation	SNP	17 : 7699832 - 7699832 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	338	68
PRUNE2	158471	broad.mit.edu	37	9	79320829	79320829	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79320829G>T	ENST00000376718.3	-	8	6484	c.6361C>A	c.(6361-6363)Ctc>Atc	p.L2121I	PRUNE2_ENST00000428286.1_Missense_Mutation_p.L1762I	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2121					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CAAGCACTGAGGTGCTTCTCA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	157	161			NA	NA	9		NA											NA				79320829		1568	3582	5150	SO:0001583	missense			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772	158471	158471			25209	protein-coding gene	gene with protein product	olfaxin	610691	chromosome 9 open reading frame 65, KIAA0367	C9orf65, KIAA0367	NA	16288218	Standard	NM_138818	NM_015225	NA	Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.6361C>A	9.37:g.79320829G>T	ENSP00000365908:p.Leu2121Ile	NA	B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	37	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.809|4.809	0.150360|0.150360	0.09185|0.09185	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.43688|.	0.94;0.94|.	5.46|5.46	-10.9|-10.9	0.00192|0.00192	.|.	1.523120|.	0.03547|.	N|.	0.224783|.	T|T	0.07098|0.07098	0.0180|0.0180	N|N	0.02315|0.02315	-0.6|-0.6	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.14755|0.14755	-1.0461|-1.0461	10|5	0.13853|.	T|.	0.58|.	4.6718|4.6718	1.9485|1.9485	0.03361|0.03361	0.1782:0.2471:0.3455:0.2292|0.1782:0.2471:0.3455:0.2292	.|.	2121|.	Q8WUY3|.	PRUN2_HUMAN|.	I|H	2121;1762;2120|1442	ENSP00000365908:L2121I;ENSP00000397425:L1762I|.	ENSP00000365908:L2121I|.	L|P	-|-	1|2	0|0	PRUNE2|PRUNE2	78510649|78510649	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.010000|0.010000	0.07245|0.07245	-0.679000|-0.679000	0.05203|0.05203	-1.730000|-1.730000	0.01362|0.01362	-1.047000|-1.047000	0.02352|0.02352	CTC|CCT	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052730.2		-	ENST00000376718.3	Missense_Mutation	SNP	9 : 79320829 - 79320829 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	762	112
LRFN3	79414	broad.mit.edu	37	19	36435681	36435681	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36435681C>A	ENST00000588831.1	+	4	2701	c.1647C>A	c.(1645-1647)gcC>gcA	p.A549A	LRFN3_ENST00000246529.3_Silent_p.A549A			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	549					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCATCGTAGCCTCGGTACTGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	29	33			NA	NA	19		NA											NA				36435681		2203	4300	6503	SO:0001819	synonymous_variant			BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243	79414	79414		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	28370	protein-coding gene	gene with protein product	fibronectin type III, immunoglobulin and leucine rich repeat domains 1	612809			NA	12975309, 16495444, 16828986	Standard	NM_024509	NM_024509	NA	Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.1647C>A	19.37:g.36435681C>A		NA	Q6UY10	37	CCDS12483.1																																																																																			LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457403.2		+	ENST00000588831.1	Silent	SNP	19 : 36435681 - 36435681 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	179	35
NR4A1	3164	broad.mit.edu	37	12	52450400	52450400	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52450400C>T	ENST00000243050.1	+	5	1443	c.1129C>T	c.(1129-1131)Ccc>Tcc	p.P377S	NR4A1_ENST00000545748.1_Missense_Mutation_p.P431S|NR4A1_ENST00000394824.2_Missense_Mutation_p.P377S|NR4A1_ENST00000550082.1_Missense_Mutation_p.P390S|NR4A1_ENST00000360284.3_Missense_Mutation_p.P390S|NR4A1_ENST00000394825.1_Missense_Mutation_p.P377S	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	377					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GGACTCAGGGCCCAGCACTGC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	80	82			NA	NA	12		NA											NA				52450400		2203	4300	6503	SO:0001583	missense			L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358	NA	3164		Nuclear hormone receptors	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1	NA	2626032	Standard		NM_002135	NA	Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.1129C>T	12.37:g.52450400C>T	ENSP00000243050:p.Pro377Ser	NA		37	CCDS8818.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122481	0.94429	.	.	ENSG00000123358	ENST00000360284;ENST00000545748;ENST00000550082;ENST00000243050;ENST00000394825;ENST00000394824	T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78	4.94	4.94	0.65067	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	T	0.67050	0.2852	M	0.64170	1.965	0.80722	D	1	D;P	0.89917	1.0;0.709	D;P	0.87578	0.998;0.609	T	0.69514	-0.5125	10	0.87932	D	0	.	17.4611	0.87620	0.0:1.0:0.0:0.0	.	390;377	B4DML7;P22736	.;NR4A1_HUMAN	S	390;431;390;377;377;377	ENSP00000353427:P390S;ENSP00000440864:P431S;ENSP00000449539:P390S;ENSP00000243050:P377S;ENSP00000378302:P377S;ENSP00000378301:P377S	ENSP00000243050:P377S	P	+	1	0	NR4A1	50736667	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.578000	0.67450	2.735000	0.93741	0.655000	0.94253	CCC	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317922.2		+	ENST00000243050.1	Missense_Mutation	SNP	12 : 52450400 - 52450400 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	537	75
KIAA1549	57670	broad.mit.edu	37	7	138602828	138602828	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138602828C>T	ENST00000440172.1	-	2	1592	c.1544G>A	c.(1543-1545)aGt>aAt	p.S515N	KIAA1549_ENST00000422774.1_Missense_Mutation_p.S515N|KIAA1549_ENST00000242365.4_Missense_Mutation_p.S465N	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	515	Ser-rich.					integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGTTGTAACACTACTCATATC	0.532		NA	O	BRAF	pilocytic astrocytoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(119;1534 1718 44213 46230 50068)		Dom	yes		7	7q34	57670	KIAA1549		O	0													32	34	33			NA	NA	7		NA											NA				138602828		2012	4181	6193	SO:0001583	missense				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778	57670	57670			22219	protein-coding gene	gene with protein product		613344			NA		Standard		NM_020910	NA	Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000440172.1:c.1544G>A	7.37:g.138602828C>T	ENSP00000406661:p.Ser515Asn	NA	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	37	CCDS47723.2	.	.	.	.	.	.	.	.	.	.	C	8.531	0.871075	0.17322	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.25749	1.78;1.79;1.78	4.05	2.15	0.27550	.	0.739620	0.12433	N	0.469386	T	0.14570	0.0352	L	0.27053	0.805	0.09310	N	1	B;P	0.36535	0.421;0.557	B;B	0.35971	0.107;0.215	T	0.16630	-1.0396	10	0.38643	T	0.18	.	2.382	0.04357	0.3473:0.3871:0.1687:0.097	.	515;515	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	N	515;465;515	ENSP00000406661:S515N;ENSP00000242365:S465N;ENSP00000416040:S515N	ENSP00000242365:S465N	S	-	2	0	KIAA1549	138253368	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	1.137000	0.31479	0.336000	0.23639	0.655000	0.94253	AGT	KIAA1549-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347938.2		-	ENST00000440172.1	Missense_Mutation	SNP	7 : 138602828 - 138602828 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	121	22
RNF123	63891	broad.mit.edu	37	3	49753586	49753586	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49753586C>T	ENST00000327697.6	+	34	3535	c.3391C>T	c.(3391-3393)Cgt>Tgt	p.R1131C	RNF123_ENST00000433785.1_Missense_Mutation_p.R243C	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1131						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CCTGTTTGATCGTGTGGTCAC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	80	85			NA	NA	3		NA											NA				49753586		2203	4300	6503	SO:0001583	missense			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068	63891	63891		RING-type (C3HC4) zinc fingers	21148	protein-coding gene	gene with protein product		614472			NA		Standard	NM_022064	NM_022064	NA	Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.3391C>T	3.37:g.49753586C>T	ENSP00000328287:p.Arg1131Cys	NA	A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	37	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936114	0.73442	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000433785	T	0.73152	-0.72	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.76557	0.4004	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.74665	-0.3589	10	0.41790	T	0.15	-12.8022	13.0939	0.59180	0.2497:0.7503:0.0:0.0	.	1131	Q5XPI4	RN123_HUMAN	C	1131;1131;243	ENSP00000328287:R1131C	ENSP00000328287:R1131C	R	+	1	0	RNF123	49728590	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.451000	0.35145	2.884000	0.98904	0.655000	0.94253	CGT	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346475.2		+	ENST00000327697.6	Missense_Mutation	SNP	3 : 49753586 - 49753586 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	162	30
ANKRD1	27063	broad.mit.edu	37	10	92675933	92675933	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:92675933C>T	ENST00000371697.3	-	6	894	c.646G>A	c.(646-648)Gat>Aat	p.D216N		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	216					cellular lipid metabolic process|defense response|signal transduction		DNA binding	p.D216Y(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				AATACCTTATCTCGGGCGCTA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											82	79	80			NA	NA	10		NA											NA				92675933		2203	4300	6503	SO:0001583	missense			X83703	CCDS7412.1	10q23.33	2014-09-17			ENSG00000148677	ENSG00000148677	27063	27063		Ankyrin repeat domain containing	15819	protein-coding gene	gene with protein product		609599			NA	7730328	Standard	NM_014391	NM_014391	NA	Approved	C-193, ALRP, CARP, CVARP, MCARP	uc001khe.1	Q15327	OTTHUMG00000018734	ENST00000371697.3:c.646G>A	10.37:g.92675933C>T	ENSP00000360762:p.Asp216Asn	NA	Q96LE7	37	CCDS7412.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970762	0.92919	.	.	ENSG00000148677	ENST00000371697	T	0.57107	0.42	5.35	5.35	0.76521	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.67859	0.2938	L	0.53780	1.695	0.80722	D	1	P	0.50710	0.938	D	0.64237	0.923	T	0.64550	-0.6381	10	0.37606	T	0.19	.	19.0606	0.93091	0.0:1.0:0.0:0.0	.	216	Q15327	ANKR1_HUMAN	N	216	ENSP00000360762:D216N	ENSP00000360762:D216N	D	-	1	0	ANKRD1	92665913	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.977000	0.76141	2.511000	0.84671	0.484000	0.47621	GAT	ANKRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049357.1		-	ENST00000371697.3	Missense_Mutation	SNP	10 : 92675933 - 92675933 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	250	43
ARMC3	219681	broad.mit.edu	37	10	23326238	23326238	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23326238C>T	ENST00000298032.5	+	19	2533	c.2449C>T	c.(2449-2451)Cgc>Tgc	p.R817C	ARMC3_ENST00000409983.3_Missense_Mutation_p.R810C|ARMC3_ENST00000376528.4_Missense_Mutation_p.R554C	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	817							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTCCCTAGTTCGCGGAGAGTA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	109	110			NA	NA	10		NA											NA				23326238		2203	4300	6503	SO:0001583	missense			AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309	219681	219681		Armadillo repeat containing	30964	protein-coding gene	gene with protein product	cancer/testis antigen 81	611226			NA		Standard	NM_173081	XM_005252380	NA	Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.2449C>T	10.37:g.23326238C>T	ENSP00000298032:p.Arg817Cys	NA	A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	37	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.509953	0.44660	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376528	T;T;T	0.63255	-0.03;-0.03;1.21	5.68	4.77	0.60923	.	0.063312	0.64402	D	0.000010	D	0.82848	0.5126	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87089	0.2171	10	0.87932	D	0	-7.066	16.1674	0.81777	0.1341:0.8659:0.0:0.0	.	810;817	Q5W041-4;Q5W041	.;ARMC3_HUMAN	C	817;810;554	ENSP00000298032:R817C;ENSP00000386943:R810C;ENSP00000365711:R554C	ENSP00000298032:R817C	R	+	1	0	ARMC3	23366244	1.000000	0.71417	0.085000	0.20634	0.011000	0.07611	3.600000	0.54052	1.370000	0.46153	0.655000	0.94253	CGC	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047197.2		+	ENST00000298032.5	Missense_Mutation	SNP	10 : 23326238 - 23326238 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	465	81
OR1E1	8387	broad.mit.edu	37	17	3300833	3300833	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3300833C>A	ENST00000322608.2	-	1	871	c.872G>T	c.(871-873)aGc>aTc	p.S291I		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						GTTCCTCAGGCTGTAGATGAA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	84	86			NA	NA	17		NA											NA				3300833		2203	4300	6503	SO:0001583	missense			U04642	CCDS11024.1	17p13.3	2012-08-09			ENSG00000180016	ENSG00000180016	8387	8387		GPCR / Class A : Olfactory receptors	8189	protein-coding gene	gene with protein product				OR1E9P, OR1E5, OR1E6	NA	8004088, 1370859	Standard	NM_003553	NM_003553	NA	Approved	OR17-2, HGM071, OR17-32, OR13-66	uc002fvj.1	P30953	OTTHUMG00000090643	ENST00000322608.2:c.872G>T	17.37:g.3300833C>A	ENSP00000313384:p.Ser291Ile	NA	O43884|P47882|P47885|Q6IFA9|Q6IFM5|Q9UBJ1|Q9UM60	37	CCDS11024.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570788	0.86542	.	.	ENSG00000180016	ENST00000322608	T	0.36878	1.23	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.59528	0.2200	M	0.80183	2.485	0.48696	D	0.999691	D	0.62365	0.991	P	0.60682	0.878	T	0.66559	-0.5893	10	0.87932	D	0	.	16.3395	0.83078	0.0:1.0:0.0:0.0	.	291	P30953	OR1E1_HUMAN	I	291	ENSP00000313384:S291I	ENSP00000313384:S291I	S	-	2	0	OR1E1	3247583	0.930000	0.31532	1.000000	0.80357	0.989000	0.77384	2.328000	0.43867	2.449000	0.82847	0.591000	0.81541	AGC	OR1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207303.1		-	ENST00000322608.2	Missense_Mutation	SNP	17 : 3300833 - 3300833 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	410	67
ITGB7	3695	broad.mit.edu	37	12	53590575	53590575	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53590575G>A	ENST00000267082.5	-	6	835	c.604C>T	c.(604-606)Ctg>Ttg	p.L202L	ITGB7_ENST00000338737.4_Silent_p.L202L|ITGB7_ENST00000422257.3_Silent_p.L202L|ITGB7_ENST00000550743.2_Silent_p.L202L	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	202	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACAAAGGGCAGCACCGTTTTG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	65	67			NA	NA	12		NA											NA				53590575		2203	4300	6503	SO:0001819	synonymous_variant				CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626	3695	3695		Integrins	6162	protein-coding gene	gene with protein product		147559			NA	2040616	Standard		XM_005268851	NA	Approved		uc001scc.3	P26010		ENST00000267082.5:c.604C>T	12.37:g.53590575G>A		NA	Q9UCP7|Q9UCS7	37	CCDS8849.1																																																																																			ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405821.2		-	ENST00000267082.5	Silent	SNP	12 : 53590575 - 53590575 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	182	34
KCNJ1	3758	broad.mit.edu	37	11	128709054	128709054	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128709054G>A	ENST00000392665.2	-	2	1229	c.1085C>T	c.(1084-1086)tCa>tTa	p.S362L	KCNJ1_ENST00000324036.3_Missense_Mutation_p.S362L|KCNJ1_ENST00000392664.2_Missense_Mutation_p.S381L|KCNJ1_ENST00000392666.1_Missense_Mutation_p.S362L|KCNJ1_ENST00000440599.2_Missense_Mutation_p.S362L	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	381					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	ATTGACTTCTGACAAGATGAA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	107	113			NA	NA	11		NA											NA				128709054		2201	4297	6498	SO:0001583	missense			BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704	3758	3758		Potassium channels, Voltage-gated ion channels / Potassium channels, Inwardly rectifying	6255	protein-coding gene	gene with protein product		600359			NA	7680431, 8190102, 16382105	Standard	NM_000220	NM_153765	NA	Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392665.2:c.1085C>T	11.37:g.128709054G>A	ENSP00000376433:p.Ser362Leu	NA	B2RMR4|Q6LD67	37	CCDS8477.1	.	.	.	.	.	.	.	.	.	.	G	2.846	-0.239413	0.05944	.	.	ENSG00000151704	ENST00000392665;ENST00000392666;ENST00000440599;ENST00000324036;ENST00000392664	D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.39	5.61	4.67	0.58626	.	0.761422	0.12512	N	0.462434	T	0.76962	0.4061	N	0.08118	0	0.30629	N	0.757678	B	0.14012	0.009	B	0.06405	0.002	T	0.63093	-0.6714	10	0.08837	T	0.75	.	14.3961	0.67013	0.0:0.0:0.7371:0.2629	.	381	P48048	IRK1_HUMAN	L	362;362;362;362;381	ENSP00000376433:S362L;ENSP00000376434:S362L;ENSP00000406320:S362L;ENSP00000316233:S362L;ENSP00000376432:S381L	ENSP00000316233:S362L	S	-	2	0	KCNJ1	128214264	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.657000	0.61490	2.635000	0.89317	0.563000	0.77884	TCA	KCNJ1-005	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386231.1		-	ENST00000392665.2	Missense_Mutation	SNP	11 : 128709054 - 128709054 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	283	46
FNTA	2339	broad.mit.edu	37	8	42919301	42919301	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42919301G>A	ENST00000302279.3	+	3	538	c.344G>A	c.(343-345)cGa>cAa	p.R115Q	FNTA_ENST00000524546.1_3'UTR|RP11-598P20.5_ENST00000534420.1_Missense_Mutation_p.R72Q|FNTA_ENST00000342116.4_Intron|FNTA_ENST00000529687.1_5'UTR	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	115					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AGAAGTGAACGAGCTTTTAAG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													194	182	186			NA	NA	8		NA											NA				42919301		2203	4300	6503	SO:0001583	missense			L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522	2339	2339		Prenyltransferase alpha subunit repeat containing	3782	protein-coding gene	gene with protein product	protein prenyltransferase alpha subunit repeat containing 2	134635			NA	8276393	Standard	NM_002027	NR_033698	NA	Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000302279.3:c.344G>A	8.37:g.42919301G>A	ENSP00000303423:p.Arg115Gln	NA	A6NJW0|Q53XJ9|Q9UDC1	37	CCDS6140.1	.	.	.	.	.	.	.	.	.	.	G	35	5.519814	0.96416	.	.	ENSG00000254673;ENSG00000168522;ENSG00000168522;ENSG00000168522	ENST00000534420;ENST00000302279;ENST00000531266;ENST00000533336	.	.	.	5.05	5.05	0.67936	Protein prenyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.84835	0.5560	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88255	0.2919	9	0.87932	D	0	-14.361	15.8992	0.79359	0.0:0.0:1.0:0.0	.	24;115	A8MVX8;P49354	.;FNTA_HUMAN	Q	72;115;97;53	.	ENSP00000303423:R115Q	R	+	2	0	FNTA;RP11-598P20.5	43038458	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.536000	0.98067	2.335000	0.79485	0.555000	0.69702	CGA	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383178.1		+	ENST00000302279.3	Missense_Mutation	SNP	8 : 42919301 - 42919301 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	646	125
PRDM16	63976	broad.mit.edu	37	1	3301745	3301745	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3301745C>T	ENST00000270722.5	+	4	517	c.468C>T	c.(466-468)ttC>ttT	p.F156F	PRDM16_ENST00000378391.2_Silent_p.F156F|PRDM16_ENST00000378398.3_Silent_p.F156F|PRDM16_ENST00000441472.2_Silent_p.F156F|PRDM16_ENST00000514189.1_Silent_p.F157F|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Silent_p.F156F|PRDM16_ENST00000511072.1_Silent_p.F157F			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	156	SET.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GTGAGAAGTTCTGCGTGGATG	0.597		NA	T	EVI1	MDS, AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0													88	99	95			NA	NA	1		NA											NA				3301745		2156	4282	6438	SO:0001819	synonymous_variant			AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611	63976	63976		Zinc fingers, C2H2-type	14000	protein-coding gene	gene with protein product	MDS1/EVI1-like, PR-domain zinc finger protein 16, transcription factor MEL1	605557			NA	11050005	Standard	NM_022114	NM_199454	NA	Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.468C>T	1.37:g.3301745C>T		NA	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	37	CCDS41236.2																																																																																			PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000001382.3		+	ENST00000270722.5	Silent	SNP	1 : 3301745 - 3301745 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	626	114
SYF2	25949	broad.mit.edu	37	1	25549848	25549848	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25549848C>A	ENST00000236273.4	-	7	666	c.641G>T	c.(640-642)aGg>aTg	p.R214M	SYF2_ENST00000354361.3_Missense_Mutation_p.R172M	NM_015484.4	NP_056299.1	O95926	SYF2_HUMAN	SYF2 pre-mRNA-splicing factor	214						catalytic step 2 spliceosome				kidney(1)|large_intestine(1)|lung(4)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)		TTTGGCATTCCTTTCATTAAT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													189	193	192			NA	NA	1		NA											NA				25549848		2203	4300	6503	SO:0001583	missense			AF273089	CCDS258.1, CCDS259.1	1p36.11	2013-08-21	2013-08-21	2005-09-14	ENSG00000117614	ENSG00000117614	25949	25949			19824	protein-coding gene	gene with protein product	functional spliceosome-associated protein 29	607090	CCNDBP1 interactor, SYF2 homolog, RNA splicing factor (S. cerevisiae)	CBPIN	NA	11118353	Standard	NM_015484	NM_207170	NA	Approved	p29, DKFZp564O2082, NTC31, fSAP29	uc001bjt.1	O95926	OTTHUMG00000043610	ENST00000236273.4:c.641G>T	1.37:g.25549848C>A	ENSP00000236273:p.Arg214Met	NA	Q5TH73	37	CCDS259.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925336	0.52759	.	.	ENSG00000117614	ENST00000236273;ENST00000354361	T;T	0.55052	0.54;0.58	5.56	4.65	0.58169	.	0.130232	0.64402	D	0.000001	T	0.78444	0.4284	M	0.93241	3.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.99	D	0.84341	0.0527	10	0.87932	D	0	-30.8613	13.5045	0.61477	0.0:0.9238:0.0:0.0762	.	214;214	B2RBX8;O95926	.;SYF2_HUMAN	M	214;172	ENSP00000236273:R214M;ENSP00000346330:R172M	ENSP00000236273:R214M	R	-	2	0	SYF2	25422435	1.000000	0.71417	1.000000	0.80357	0.140000	0.21249	7.409000	0.80053	1.491000	0.48482	-0.140000	0.14226	AGG	SYF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000101962.1		-	ENST00000236273.4	Missense_Mutation	SNP	1 : 25549848 - 25549848 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	625	138
ERC1	23085	broad.mit.edu	37	12	1219453	1219453	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1219453G>T	ENST00000536573.2	+	0	179				ERC1_ENST00000355446.5_Missense_Mutation_p.R419S|ERC1_ENST00000589028.1_Missense_Mutation_p.R419S|ERC1_ENST00000546231.2_Missense_Mutation_p.R419S|ERC1_ENST00000360905.4_Missense_Mutation_p.R419S|ERC1_ENST00000397203.2_Missense_Mutation_p.R419S|ERC1_ENST00000543086.3_Missense_Mutation_p.R419S			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	NA					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			CTGAGGAAAGGGAAGAAGAAA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	117	116			NA	NA	12		NA											NA				1219453		2203	4300	6503	SO:0001624	3_prime_UTR_variant			AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805	23085	23085			17072	protein-coding gene	gene with protein product		607127	RAB6 interacting protein 2	RAB6IP2	NA	10697956, 11929610	Standard	NM_015064	NM_178040	NA	Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000536573.2:c.*176G>T	12.37:g.1219453G>T		NA	A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	37		.	.	.	.	.	.	.	.	.	.	G	17.86	3.492438	0.64074	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000543086;ENST00000542302;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	T;T;T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	5.93	1.33	0.21861	.	0.059501	0.64402	D	0.000001	T	0.69717	0.3142	L	0.54323	1.7	0.49213	D	0.999763	P;D;D;D;D	0.64830	0.917;0.974;0.994;0.993;0.988	P;P;P;P;D	0.65233	0.557;0.786;0.856;0.863;0.933	T	0.67845	-0.5565	10	0.10636	T	0.68	-17.5835	2.8857	0.05660	0.2938:0.0969:0.463:0.1462	.	195;56;419;419;419	F5H327;F5GZU8;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;.;RB6I2_HUMAN	S	419;419;419;419;419;419;419;419;419;419;195;56	ENSP00000340054:R419S;ENSP00000380386:R419S;ENSP00000438546:R419S;ENSP00000445336:R419S;ENSP00000442739:R419S;ENSP00000347621:R419S;ENSP00000354158:R419S;ENSP00000410064:R419S	ENSP00000340054:R419S	R	+	3	2	ERC1	1089714	0.221000	0.23642	0.999000	0.59377	0.900000	0.52787	-0.547000	0.06055	0.356000	0.24157	0.585000	0.79938	AGG	ERC1-003	KNOWN	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000397934.4		+	ENST00000536573.2	3'UTR	SNP	12 : 1219453 - 1219453 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	330	56
PCDHGA3	56112	broad.mit.edu	37	5	140724186	140724186	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140724186C>A	ENST00000253812.6	+	1	586	c.586C>A	c.(586-588)Ctg>Atg	p.L196M	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			protocadherin gamma subfamily A, 3	NA										breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGCTGGTGCTGGAGCGGGC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	62	61			NA	NA	5		NA											NA				140724186		2081	4227	6308	SO:0001583	missense			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245	56112	56112		Cadherins / Protocadherins : Clustered	8701	other	protocadherin		606290			NA	10380929	Standard	NM_018916	NM_032011	NA	Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.586C>A	5.37:g.140724186C>A	ENSP00000253812:p.Leu196Met	NA		37	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	11.01	1.513160	0.27123	.	.	ENSG00000254245	ENST00000253812	T	0.24723	1.84	5.65	2.92	0.33932	Cadherin (3);Cadherin-like (1);	0.000000	0.27379	U	0.019626	T	0.63094	0.2482	H	0.98314	4.2	0.21950	N	0.999452	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.59968	-0.7354	10	0.87932	D	0	.	8.1665	0.31230	0.0:0.6332:0.0:0.3668	.	196;196	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	M	196	ENSP00000253812:L196M	ENSP00000253812:L196M	L	+	1	2	PCDHGA3	140704370	0.076000	0.21285	1.000000	0.80357	0.364000	0.29643	0.158000	0.16422	0.874000	0.35823	-0.136000	0.14681	CTG	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377017.1		+	ENST00000253812.6	Missense_Mutation	SNP	5 : 140724186 - 140724186 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	482	84
TENM2	57451	broad.mit.edu	37	5	167674181	167674181	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167674181C>A	ENST00000520394.1	+	23	5571	c.5520C>A	c.(5518-5520)ttC>ttA	p.F1840L	TENM2_ENST00000403607.2_Missense_Mutation_p.F1903L|TENM2_ENST00000519204.1_Missense_Mutation_p.F1958L|TENM2_ENST00000545108.1_Missense_Mutation_p.F2078L|TENM2_ENST00000518659.1_Missense_Mutation_p.F2079L					teneurin transmembrane protein 2	NA								p.F1912L(1)			NA						TCTACAGGTTCTCCGAGGAAG	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)	large_intestine(1)											118	117	117			NA	NA	5		NA											NA				167674181		2016	4184	6200	SO:0001583	missense			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934	57451	57451			29943	protein-coding gene	gene with protein product		610119	odz, odd Oz/ten-m homolog 2 (Drosophila)	ODZ2	NA	10625539	Standard	NM_001122679	NM_001122679	NA	Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000520394.1:c.5520C>A	5.37:g.167674181C>A	ENSP00000427874:p.Phe1840Leu	NA		37		.	.	.	.	.	.	.	.	.	.	C	17.11	3.305576	0.60305	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89681	-2.07;-2.06;-2.18;-2.51;-2.55	5.32	3.42	0.39159	.	0.000000	0.85682	D	0.000000	D	0.93259	0.7852	M	0.85859	2.78	0.48632	D	0.999684	D;D;D	0.76494	0.999;0.998;0.982	D;D;D	0.87578	0.998;0.995;0.961	D	0.90436	0.4428	10	0.20519	T	0.43	.	9.2418	0.37500	0.0:0.7511:0.0:0.2488	.	2078;2079;1840	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	L	2079;2078;1958;1840;1903	ENSP00000429430:F2079L;ENSP00000438635:F2078L;ENSP00000428964:F1958L;ENSP00000427874:F1840L;ENSP00000384905:F1903L	ENSP00000384905:F1903L	F	+	3	2	ODZ2	167606759	1.000000	0.71417	0.969000	0.41365	0.971000	0.66376	2.164000	0.42387	0.537000	0.28751	0.561000	0.74099	TTC	TENM2-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000371066.2		+	ENST00000520394.1	Missense_Mutation	SNP	5 : 167674181 - 167674181 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	597	127
CAMTA1	23261	broad.mit.edu	37	1	7737765	7737765	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7737765C>A	ENST00000303635.7	+	11	3093	c.2886C>A	c.(2884-2886)tcC>tcA	p.S962S	CAMTA1_ENST00000439411.2_Silent_p.S962S	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	962					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)		CGCTCCCTTCCTCCCAGCACG	0.567		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													101	91	94			NA	NA	1		NA											NA				7737765		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.2886C>A	1.37:g.7737765C>A		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 : 7737765 - 7737765 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	35
N4BP2	55728	broad.mit.edu	37	4	40103869	40103869	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40103869A>G	ENST00000261435.6	+	4	820	c.404A>G	c.(403-405)gAc>gGc	p.D135G		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	135						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TCATTTTTGGACATGCAGCTA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	91	92			NA	NA	4		NA											NA				40103869		2203	4300	6503	SO:0001583	missense			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177	55728	55728			29851	protein-coding gene	gene with protein product	BCL-3 binding protein				NA	10718198, 11717310	Standard	NM_018177	NM_018177	NA	Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.404A>G	4.37:g.40103869A>G	ENSP00000261435:p.Asp135Gly	NA	A0AVR3|Q9NVK2|Q9P2D4	37	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	A	18.07	3.541654	0.65085	.	.	ENSG00000078177	ENST00000261435;ENST00000381804;ENST00000515550	T;T	0.80304	-1.36;-1.36	6.08	6.08	0.98989	.	0.549948	0.19174	N	0.120868	T	0.73450	0.3588	L	0.32530	0.975	0.29809	N	0.831763	B;B	0.27997	0.197;0.125	B;B	0.32533	0.147;0.07	T	0.72656	-0.4227	10	0.66056	D	0.02	-8.8579	10.3186	0.43751	0.9245:0.0:0.0755:0.0	.	135;135	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	G	135;55;55	ENSP00000261435:D135G;ENSP00000422057:D55G	ENSP00000261435:D135G	D	+	2	0	N4BP2	39780264	1.000000	0.71417	0.999000	0.59377	0.908000	0.53690	3.636000	0.54317	2.333000	0.79357	0.482000	0.46254	GAC	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250458.2		+	ENST00000261435.6	Missense_Mutation	SNP	4 : 40103869 - 40103869 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	506	116
CUEDC2	79004	broad.mit.edu	37	10	104183780	104183780	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104183780C>T	ENST00000369937.4	-	6	712	c.567G>A	c.(565-567)ggG>ggA	p.G189G	CUEDC2_ENST00000465409.1_5'UTR	NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN	CUE domain containing 2	189						cytoplasm|nucleus	protein binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		AGGCTGCAGGCCCCTCTTCCT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	35	34			NA	NA	10		NA											NA				104183780		1917	4117	6034	SO:0001819	synonymous_variant			BC000262	CCDS41566.1	10q24.32	2008-10-23	2004-03-04	2004-03-05	ENSG00000107874	ENSG00000107874	79004	79004			28352	protein-coding gene	gene with protein product		614142	chromosome 10 open reading frame 66	C10orf66	NA	12477932	Standard	NM_024040	NM_024040	NA	Approved	MGC2491	uc001kvn.2	Q9H467	OTTHUMG00000018958	ENST00000369937.4:c.567G>A	10.37:g.104183780C>T		NA	D3DR88|Q9BWG8	37	CCDS41566.1																																																																																			CUEDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050060.1		-	ENST00000369937.4	Silent	SNP	10 : 104183780 - 104183780 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	58
TMEM38A	79041	broad.mit.edu	37	19	16791297	16791297	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16791297T>G	ENST00000187762.2	+	3	462	c.371T>G	c.(370-372)gTg>gGg	p.V124G		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	124						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						ATGAAGGAGGTGGTGCGAGTC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													207	191	197			NA	NA	19		NA											NA				16791297		2203	4300	6503	SO:0001583	missense			AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954	79041	79041			28462	protein-coding gene	gene with protein product		611235			NA	17611541	Standard	NM_024074	NM_024074	NA	Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.371T>G	19.37:g.16791297T>G	ENSP00000187762:p.Val124Gly	NA	A8K9P9	37	CCDS12349.1	.	.	.	.	.	.	.	.	.	.	t	25.8	4.675985	0.88445	.	.	ENSG00000072954	ENST00000187762	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.79488	0.4454	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82824	-0.0266	9	0.87932	D	0	-30.6057	14.1028	0.65068	0.0:0.0:0.0:1.0	.	124	Q9H6F2	TM38A_HUMAN	G	124	.	ENSP00000187762:V124G	V	+	2	0	TMEM38A	16652297	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.903000	0.87398	1.991000	0.58162	0.459000	0.35465	GTG	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462841.1		+	ENST00000187762.2	Missense_Mutation	SNP	19 : 16791297 - 16791297 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1023	245
GRM5	2915	broad.mit.edu	37	11	88386453	88386453	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88386453G>A	ENST00000305447.4	-	3	1179	c.1030C>T	c.(1030-1032)Ctc>Ttc	p.L344F	GRM5_ENST00000455756.2_Missense_Mutation_p.L344F|GRM5_ENST00000393297.1_Missense_Mutation_p.L344F|GRM5_ENST00000418177.2_Missense_Mutation_p.L344F|GRM5_ENST00000305432.5_Missense_Mutation_p.L344F	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	344					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TCTGGCCGGAGCTTCAGATAA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	95	95			NA	NA	11		NA											NA				88386453		2201	4299	6500	SO:0001583	missense			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959	2915	2915		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4597	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 86	604102			NA	7908515	Standard	NM_000842	NM_001143831	NA	Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1030C>T	11.37:g.88386453G>A	ENSP00000306138:p.Leu344Phe	NA		37	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	G	31	5.078044	0.94000	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91	5.88	5.88	0.94601	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.93749	0.8002	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93388	0.6749	9	.	.	.	.	20.2314	0.98350	0.0:0.0:1.0:0.0	.	344;344	P41594-2;P41594	.;GRM5_HUMAN	F	344	ENSP00000402912:L344F;ENSP00000405690:L344F;ENSP00000305905:L344F;ENSP00000306138:L344F;ENSP00000376975:L344F	.	L	-	1	0	GRM5	88026101	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.789000	0.95967	0.591000	0.81541	CTC	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000259226.1		-	ENST00000305447.4	Missense_Mutation	SNP	11 : 88386453 - 88386453 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	401	75
SETD4	54093	broad.mit.edu	37	21	37420647	37420647	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37420647C>T	ENST00000399215.1	-	4	1627	c.255G>A	c.(253-255)acG>acA	p.T85T	SETD4_ENST00000399201.1_Silent_p.T61T|SETD4_ENST00000399208.2_Silent_p.T85T|SETD4_ENST00000332131.4_Silent_p.T85T|SETD4_ENST00000399207.1_Silent_p.T85T|SETD4_ENST00000399205.1_Silent_p.T61T|SETD4_ENST00000399212.1_Silent_p.T61T|SETD4_ENST00000481477.1_Intron			Q9NVD3	SETD4_HUMAN	SET domain containing 4	85	SET.									autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						TCACTGTGTCCGTGGTGAGCA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													373	309	331			NA	NA	21		NA											NA				37420647		2203	4300	6503	SO:0001819	synonymous_variant			AK001660	CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1	21q22.13	2006-02-15	2006-02-15	2006-02-15	ENSG00000185917	ENSG00000185917	54093	54093			1258	protein-coding gene	gene with protein product			chromosome 21 open reading frame 27, chromosome 21 open reading frame 18	C21orf27, C21orf18	NA		Standard	NM_017438	XM_005261000	NA	Approved		uc021wiy.1	Q9NVD3	OTTHUMG00000086483	ENST00000399215.1:c.255G>A	21.37:g.37420647C>T		NA	B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	37	CCDS13640.1																																																																																			SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000194456.1		-	ENST00000399215.1	Silent	SNP	21 : 37420647 - 37420647 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1258	144
ETS2	2114	broad.mit.edu	37	21	40191600	40191600	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40191600A>G	ENST00000360214.3	+	9	1445	c.985A>G	c.(985-987)Atg>Gtg	p.M329V	ETS2_ENST00000360938.3_Missense_Mutation_p.M329V	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	329					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TAAGCCAACCATGTCTTTCAA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	62	66			NA	NA	21		NA											NA				40191600		2203	4300	6503	SO:0001583	missense				CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557	2114	2114			3489	protein-coding gene	gene with protein product		164740	v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)		NA	17986575	Standard		NM_001256295	NA	Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.985A>G	21.37:g.40191600A>G	ENSP00000353344:p.Met329Val	NA	A6NM68|D3DSH6|Q53Y89	37	CCDS13659.1	.	.	.	.	.	.	.	.	.	.	A	10.24	1.295585	0.23564	.	.	ENSG00000157557	ENST00000360214;ENST00000360938	T;T	0.12039	2.72;2.72	5.9	5.9	0.94986	.	0.293939	0.42821	D	0.000653	T	0.12732	0.0309	L	0.38838	1.175	0.41499	D	0.988279	B	0.10296	0.003	B	0.06405	0.002	T	0.12451	-1.0547	10	0.16420	T	0.52	.	16.3322	0.83039	1.0:0.0:0.0:0.0	.	329	P15036	ETS2_HUMAN	V	329	ENSP00000353344:M329V;ENSP00000354194:M329V	ENSP00000353344:M329V	M	+	1	0	ETS2	39113470	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.507000	0.60434	2.251000	0.74343	0.528000	0.53228	ATG	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207544.1		+	ENST00000360214.3	Missense_Mutation	SNP	21 : 40191600 - 40191600 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	136	16
CDC42BPA	8476	broad.mit.edu	37	1	227210999	227210999	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227210999G>T	ENST00000366769.3	-	31	5766	c.4475C>A	c.(4474-4476)aCc>aAc	p.T1492N	CDC42BPA_ENST00000366765.3_Missense_Mutation_p.T1505N|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.T1492N|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.T1411N|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.T1472N|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.T1464N|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.T1527N	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	1505	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TAATCTAATGGTCTCCAACCC	0.274		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	47	46			NA	NA	1		NA											NA				227210999		2192	4289	6481	SO:0001583	missense			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776	8476	8476			1737	protein-coding gene	gene with protein product	myotonic dystrophy kinase-related Cdc42-binding kinase	603412	CDC42-binding protein kinase alpha (DMPK-like)		NA		Standard	NM_014826	NM_003607	NA	Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.4475C>A	1.37:g.227210999G>T	ENSP00000355731:p.Thr1492Asn	NA	O75039|Q59GZ1|Q5H9N9|Q5T797|Q5VT26|Q5VT27|Q86XX2|Q86XX3|Q99646	37	CCDS1558.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.64|19.64	3.864684|3.864684	0.71949|0.71949	.|.	.|.	ENSG00000143776|ENSG00000143776	ENST00000448940;ENST00000442054;ENST00000429440;ENST00000441725|ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765	.|T;T;T;T;T;T;T	.|0.66460	.|-0.17;-0.17;-0.18;-0.18;-0.21;-0.18;-0.16	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77046|0.77046	0.4073|0.4073	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|D;D;D;P;D;P;P;D	.|0.89917	.|1.0;0.981;0.984;0.683;0.999;0.868;0.793;1.0	.|D;P;P;B;D;B;B;D	.|0.85130	.|0.997;0.74;0.67;0.402;0.986;0.284;0.284;0.997	T|T	0.71094|0.71094	-0.4692|-0.4692	5|10	.|0.21540	.|T	.|0.41	.|.	19.3466|19.3466	0.94365|0.94365	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1472;1464;807;389;1411;1492;1527;694	.|F5H5N0;Q5VT25-4;E9PEF7;Q5T7A7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799	.|.;.;.;.;.;.;.;.	E|N	694;820;389;716|1492;1411;1492;1527;1464;807;1472;1505	.|ENSP00000355731:T1492N;ENSP00000355729:T1411N;ENSP00000335341:T1492N;ENSP00000355728:T1527N;ENSP00000355726:T1464N;ENSP00000443275:T1472N;ENSP00000355727:T1505N	.|ENSP00000335341:T1492N	D|T	-|-	3|2	2|0	CDC42BPA|CDC42BPA	225277622|225277622	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	8.845000|8.845000	0.92153|0.92153	2.636000|2.636000	0.89361|0.89361	0.655000|0.655000	0.94253|0.94253	GAC|ACC	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091696.1		-	ENST00000366769.3	Missense_Mutation	SNP	1 : 227210999 - 227210999 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	152	16
PSMC1	5700	broad.mit.edu	37	14	90735847	90735847	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90735847G>A	ENST00000261303.8	+	9	1091	c.988G>A	c.(988-990)Gcc>Acc	p.A330T	PSMC1_ENST00000543772.2_Missense_Mutation_p.A257T	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1	330					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		AGTTATCATGGCCACAAACCG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	137	138			NA	NA	14		NA											NA				90735847		2203	4298	6501	SO:0001583	missense			L02426	CCDS32139.1	14q32.11	2010-04-21			ENSG00000100764	ENSG00000100764	5700	5700		Proteasome (prosome, macropain) subunits, ATPases / AAA-type	9547	protein-coding gene	gene with protein product		602706			NA	9473509	Standard	NM_002802	NM_002802	NA	Approved	S4, p56	uc001xyf.3	P62191		ENST00000261303.8:c.988G>A	14.37:g.90735847G>A	ENSP00000261303:p.Ala330Thr	NA	P49014|Q03527|Q6IAW0|Q96AZ3	37	CCDS32139.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717645	0.89205	.	.	ENSG00000100764	ENST00000261303;ENST00000543772	D;D	0.94576	-3.46;-3.46	4.92	4.01	0.46588	ATPase, AAA-type, conserved site (1);ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.148921	0.64402	D	0.000012	D	0.95658	0.8588	L	0.45051	1.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95992	0.8986	10	0.87932	D	0	-16.7283	14.7381	0.69430	0.0:0.0:0.854:0.146	.	330	P62191	PRS4_HUMAN	T	330;257	ENSP00000261303:A330T;ENSP00000445147:A257T	ENSP00000261303:A330T	A	+	1	0	PSMC1	89805600	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.830000	0.99415	1.166000	0.42689	0.563000	0.77884	GCC	PSMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411253.1		+	ENST00000261303.8	Missense_Mutation	SNP	14 : 90735847 - 90735847 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	725	76
VPS13A	23230	broad.mit.edu	37	9	79841408	79841408	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79841408C>T	ENST00000360280.3	+	15	1511	c.1251C>T	c.(1249-1251)taC>taT	p.Y417Y	VPS13A_ENST00000376636.3_Silent_p.Y417Y|VPS13A_ENST00000376634.4_Silent_p.Y417Y|VPS13A_ENST00000357409.5_Silent_p.Y417Y	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	417					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACAAAATTTACAAAGAAGGAG	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	85	83			NA	NA	9		NA											NA				79841408		2203	4300	6503	SO:0001819	synonymous_variant			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969	23230	23230			1908	protein-coding gene	gene with protein product	chorein	605978	chorea acanthocytosis, vacuolar protein sorting 13A (yeast)	CHAC	NA	9382101, 11381253	Standard	NM_015186	NM_001018038	NA	Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.1251C>T	9.37:g.79841408C>T		NA	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	37	CCDS6655.1																																																																																			VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052753.2		+	ENST00000360280.3	Silent	SNP	9 : 79841408 - 79841408 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	291	47
PRSS58	136541	broad.mit.edu	37	7	141954930	141954930	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141954930G>A	ENST00000552471.1	-	3	700	c.381C>T	c.(379-381)atC>atT	p.I127I	PRSS58_ENST00000547058.2_Silent_p.I127I			Q8IYP2	PRS58_HUMAN	protease, serine, 58	127	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						TATTTTCAGAGATAGTTTGGT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													251	227	235			NA	NA	7		NA											NA				141954930		2203	4300	6503	SO:0001819	synonymous_variant				CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	136541	136541	3.4.21.4	Serine peptidases / Serine peptidases	39125	protein-coding gene	gene with protein product	trypsin X3				NA		Standard	NM_001001317	NM_001001317	NA	Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.381C>T	7.37:g.141954930G>A		NA	B3KVJ6|D3DXD2	37	CCDS5871.1																																																																																			PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351328.2		-	ENST00000552471.1	Silent	SNP	7 : 141954930 - 141954930 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	830	147
SNX13	23161	broad.mit.edu	37	7	17838675	17838675	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:17838675G>T	ENST00000409389.1	-	23	2606	c.2434C>A	c.(2434-2436)Ctt>Att	p.L812I	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Missense_Mutation_p.L801I			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	812					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					AGCTGTTGAAGTAGGTTTTTG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	168	172			NA	NA	7		NA											NA				17838675		1841	4083	5924	SO:0001583	missense			AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189	23161	23161		Sorting nexins	21335	protein-coding gene	gene with protein product		606589			NA	11485546, 11729322	Standard	NM_015132	NM_015132	NA	Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.2434C>A	7.37:g.17838675G>T	ENSP00000386705:p.Leu812Ile	NA	B2RCI9|O94821|Q8WVZ2|Q8WXH8	37		.	.	.	.	.	.	.	.	.	.	G	33	5.239787	0.95240	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.35789	1.29;1.29	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.61578	0.2358	M	0.75264	2.295	0.80722	D	1	D;D;D	0.76494	0.999;0.988;0.996	D;D;D	0.68943	0.961;0.941;0.929	T	0.58335	-0.7654	10	0.39692	T	0.17	-15.0832	19.8167	0.96571	0.0:0.0:1.0:0.0	.	598;812;801	B3KN60;B8ZZT9;Q9Y5W8-2	.;.;.	I	812;801;849	ENSP00000386705:L812I;ENSP00000398789:L801I	ENSP00000242044:L849I	L	-	1	0	SNX13	17805200	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.330000	0.96422	2.679000	0.91253	0.563000	0.77884	CTT	SNX13-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000327608.1		-	ENST00000409389.1	Missense_Mutation	SNP	7 : 17838675 - 17838675 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	372	59
TOMM34	10953	broad.mit.edu	37	20	43577463	43577463	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43577463C>A	ENST00000372813.3	-	5	758	c.606G>T	c.(604-606)gaG>gaT	p.E202D	PABPC1L_ENST00000372819.1_Intron|PABPC1L_ENST00000490798.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	202					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				TCTTTACAAGCTCATTGCCTT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													233	190	204			NA	NA	20		NA											NA				43577463		2203	4300	6503	SO:0001583	missense			U58970	CCDS13340.1	20q12-q13.1	2013-01-10			ENSG00000025772	ENSG00000025772	10953	10953		Tetratricopeptide (TTC) repeat domain containing	15746	protein-coding gene	gene with protein product	outer mitochondrial membrane translocase (34kD)				NA	9324309	Standard	NM_006809	NM_006809	NA	Approved	TOM34, HTOM34P	uc002xmy.3	Q15785	OTTHUMG00000032552	ENST00000372813.3:c.606G>T	20.37:g.43577463C>A	ENSP00000361900:p.Glu202Asp	NA	Q53GH9|Q6IBN7|Q9NTZ3	37	CCDS13340.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.493880	0.26774	.	.	ENSG00000025772	ENST00000372813	T	0.74209	-0.82	5.55	3.61	0.41365	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.317848	0.33144	N	0.005230	T	0.61098	0.2320	L	0.49350	1.555	0.23879	N	0.996584	B	0.09022	0.002	B	0.06405	0.002	T	0.41574	-0.9501	10	0.13853	T	0.58	-16.6456	5.1116	0.14811	0.0:0.6308:0.1648:0.2044	.	202	Q15785	TOM34_HUMAN	D	202	ENSP00000361900:E202D	ENSP00000361900:E202D	E	-	3	2	TOMM34	43010877	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.329000	0.19698	0.886000	0.36113	0.585000	0.79938	GAG	TOMM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079390.3		-	ENST00000372813.3	Missense_Mutation	SNP	20 : 43577463 - 43577463 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	274	57
KIAA1551	55196	broad.mit.edu	37	12	32133908	32133908	+	Missense_Mutation	SNP	C	C	T	rs150927474	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32133908C>T	ENST00000312561.4	+	4	433	c.19C>T	c.(19-21)Cca>Tca	p.P7S	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639			KIAA1551	NA											NA						GAATGAAAAACCAAAGAGTGC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	74	78			NA	NA	12		NA											NA				32133908		2203	4300	6503	SO:0001583	missense			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718	55196	55196			25559	protein-coding gene	gene with protein product			chromosome 12 open reading frame 35	C12orf35	NA	10997877	Standard	NM_018169	NM_018169	NA	Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.19C>T	12.37:g.32133908C>T	ENSP00000310338:p.Pro7Ser	NA		37	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214232	0.58452	.	.	ENSG00000174718	ENST00000540924;ENST00000312561;ENST00000381054	T;T;T	0.22134	2.87;1.97;1.97	5.19	4.3	0.51218	.	0.381540	0.22476	N	0.059557	T	0.19046	0.0457	L	0.29908	0.895	0.09310	N	1	P	0.40731	0.728	B	0.42245	0.381	T	0.06625	-1.0816	10	0.66056	D	0.02	.	11.9815	0.53123	0.0:0.9179:0.0:0.0821	.	7	Q9HCM1	CL035_HUMAN	S	7	ENSP00000445152:P7S;ENSP00000310338:P7S;ENSP00000370442:P7S	ENSP00000310338:P7S	P	+	1	0	C12orf35	32025175	0.897000	0.30589	0.008000	0.14137	0.014000	0.08584	1.686000	0.37669	1.172000	0.42781	0.655000	0.94253	CCA	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250307.2		+	ENST00000312561.4	Missense_Mutation	SNP	12 : 32133908 - 32133908 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	61
PTPRM	5797	broad.mit.edu	37	18	8252488	8252488	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8252488C>T	ENST00000580170.1	+	18	3594	c.2557C>T	c.(2557-2559)Cca>Tca	p.P853S	PTPRM_ENST00000332175.8_Intron|PTPRM_ENST00000444013.1_Intron|PTPRM_ENST00000400053.4_Intron|PTPRM_ENST00000400060.4_Intron	NM_001105244.1	NP_001098714.1	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	842					homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CTTAAAAGTGCCAATAAATGG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	152	153			NA	NA	18		NA											NA				8252488		1908	4127	6035	SO:0001583	missense			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482	5797	5797		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	9675	protein-coding gene	gene with protein product		176888		PTPRL1	NA	1655529, 8404049	Standard		NM_002845	NA	Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000580170.1:c.2557C>T	18.37:g.8252488C>T	ENSP00000463325:p.Pro853Ser	NA	D3DUH8	37	CCDS58613.1																																																																																			PTPRM-012	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443793.1		+	ENST00000580170.1	Missense_Mutation	SNP	18 : 8252488 - 8252488 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	45
MOCS2	4338	broad.mit.edu	37	5	52396257	52396257	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52396257A>G	ENST00000396954.3	-	6	1162	c.485T>C	c.(484-486)gTg>gCg	p.V162A	MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000584946.1_3'UTR|MOCS2_ENST00000508922.1_Intron|MOCS2_ENST00000582677.1_3'UTR|MOCS2_ENST00000510818.2_3'UTR|MOCS2_ENST00000361377.4_3'UTR	NM_004531.3	NP_004522.1	O96033	MOC2A_HUMAN	molybdenum cofactor synthesis 2	0					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CCATATGGGCACCTTGGCTTT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	93	92			NA	NA	5		NA											NA				52396257		2203	4300	6503	SO:0001583	missense			AF117815	CCDS3958.1, CCDS47205.1	5q11	2008-02-05			ENSG00000164172	ENSG00000164172	4338	4338			7193	protein-coding gene	gene with protein product		603708			NA	10053004, 9889283	Standard	NM_183418	NM_004531	NA	Approved	MOCO1	uc003joz.3	O96007	OTTHUMG00000096981	ENST00000396954.3:c.485T>C	5.37:g.52396257A>G	ENSP00000380157:p.Val162Ala	NA		37	CCDS3958.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.497555	0.85069	.	.	ENSG00000164172	ENST00000396954	T	0.22539	1.95	5.65	5.65	0.86999	.	0.123423	0.56097	D	0.000038	T	0.41259	0.1151	M	0.62154	1.92	0.80722	D	1	D	0.60575	0.988	D	0.63877	0.919	T	0.08889	-1.0700	10	0.33940	T	0.23	-7.8556	15.3584	0.74448	1.0:0.0:0.0:0.0	.	162	O96007	MOC2B_HUMAN	A	162	ENSP00000380157:V162A	ENSP00000380157:V162A	V	-	2	0	MOCS2	52432014	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.373000	0.79623	2.279000	0.76181	0.533000	0.62120	GTG	MOCS2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214053.3		-	ENST00000396954.3	Missense_Mutation	SNP	5 : 52396257 - 52396257 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	362	61
SAFB2	9667	broad.mit.edu	37	19	5592849	5592849	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5592849G>A	ENST00000252542.4	-	16	2521	c.2257C>T	c.(2257-2259)Cga>Tga	p.R753*		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	753	Arg-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		GCACGATATCGGTCCTCCATT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(127;888 1728 23957 44128 52668)							NA				0													153	117	129			NA	NA	19		NA											NA				5592849		2203	4300	6503	SO:0001587	stop_gained			D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254	9667	9667		RNA binding motif (RRM) containing	21605	protein-coding gene	gene with protein product		608066			NA	12660241	Standard	NM_014649	NM_014649	NA	Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.2257C>T	19.37:g.5592849G>A	ENSP00000252542:p.Arg753*	NA	Q8TB13	37	CCDS32879.1	.	.	.	.	.	.	.	.	.	.	G	37	6.247483	0.97412	.	.	ENSG00000130254	ENST00000252542	.	.	.	4.7	2.52	0.30459	.	0.000000	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.424	12.9125	0.58187	0.0:0.0:0.5736:0.4264	.	.	.	.	X	753	.	ENSP00000252542:R753X	R	-	1	2	SAFB2	5543849	0.784000	0.28713	0.872000	0.34217	0.114000	0.19823	0.052000	0.14163	0.155000	0.19261	-0.364000	0.07487	CGA	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451016.1		-	ENST00000252542.4	Nonsense_Mutation	SNP	19 : 5592849 - 5592849 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	229	10
CHD4	1108	broad.mit.edu	37	12	6700658	6700658	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6700658C>T	ENST00000544484.1	-	22	3451	c.3305G>A	c.(3304-3306)cGg>cAg	p.R1102Q	CHD4_ENST00000357008.2_Missense_Mutation_p.R1105Q|CHD4_ENST00000309577.6_Missense_Mutation_p.R1105Q|CHD4_ENST00000544040.1_Missense_Mutation_p.R1098Q			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1105	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GGCCTCTTGCCGCATGTTCCC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(32;586 792 4568 16848 45314)							NA				0													175	147	156			NA	NA	12		NA											NA				6700658		2203	4300	6503	SO:0001583	missense			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642	1108	1108		Zinc fingers, PHD-type	1919	protein-coding gene	gene with protein product		603277			NA	7575689, 8843877	Standard	NM_001273	XM_006718958	NA	Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000544484.1:c.3305G>A	12.37:g.6700658C>T	ENSP00000440392:p.Arg1102Gln	NA	Q8IXZ5	37		.	.	.	.	.	.	.	.	.	.	C	26.7	4.759737	0.89932	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54	5.15	5.15	0.70609	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.97015	0.9025	H	0.98426	4.23	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.91635	0.993;0.999;0.964	D	0.98797	1.0738	10	0.87932	D	0	.	18.6317	0.91361	0.0:1.0:0.0:0.0	.	1105;1105;1098	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	Q	1102;1098;1105;1105;1079	ENSP00000440392:R1102Q;ENSP00000440542:R1098Q;ENSP00000312419:R1105Q;ENSP00000349508:R1105Q	ENSP00000312419:R1105Q	R	-	2	0	CHD4	6570919	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	7.685000	0.84117	2.409000	0.81822	0.655000	0.94253	CGG	CHD4-013	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000402631.1		-	ENST00000544484.1	Missense_Mutation	SNP	12 : 6700658 - 6700658 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	425	76
SLC5A8	160728	broad.mit.edu	37	12	101576692	101576692	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101576692T>C	ENST00000536262.2	-	9	1612	c.1054A>G	c.(1054-1056)Aca>Gca	p.T352A		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	352					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GAGGACACTGTGCTGTAAGGG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(60;420 1056 13605 22380 47675)							NA				0													87	82	83			NA	NA	12		NA											NA				101576692		2203	4300	6503	SO:0001630	splice_region_variant			AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870	160728	160728		Solute carriers	19119	protein-coding gene	gene with protein product		608044	solute carrier family 5 (iodide transporter), member 8		NA	12107270, 12829793	Standard	NM_145913	NM_145913	NA	Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.1053-1A>G	12.37:g.101576692T>C		NA	Q2TB99|Q7Z2H9	37	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.774384	0.90108	.	.	ENSG00000256870	ENST00000536262	D	0.88741	-2.42	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.95430	0.8516	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96282	0.9207	10	0.87932	D	0	.	15.7376	0.77859	0.0:0.0:0.0:1.0	.	352	Q8N695	SC5A8_HUMAN	A	352	ENSP00000445340:T352A	ENSP00000445340:T352A	T	-	1	0	SLC5A8	100100823	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.972000	0.88022	2.134000	0.65973	0.528000	0.53228	ACA	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409401.1	Missense_Mutation	-	ENST00000536262.2	Splice_Site	SNP	12 : 101576692 - 101576692 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	309	32
THSD7A	221981	broad.mit.edu	37	7	11632901	11632901	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11632901A>C	ENST00000423059.4	-	3	1502	c.1251T>G	c.(1249-1251)gaT>gaG	p.D417E		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	NA						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGACAACTCCATCTCCTTGAG	0.443		NA								HNSCC(18;0.044)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	84	85			NA	NA	7		NA											NA				11632901		1904	4129	6033	SO:0001583	missense				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108	221981	221981			22207	protein-coding gene	gene with protein product		612249			NA		Standard	XM_928187.2	NM_015204	NA	Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1251T>G	7.37:g.11632901A>C	ENSP00000406482:p.Asp417Glu	NA		37	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	A	0.022	-1.406718	0.01155	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.58652	0.32	5.41	0.0744	0.14395	.	0.089564	0.85682	N	0.000000	T	0.30792	0.0776	N	0.20445	0.575	0.41229	D	0.986567	B	0.02656	0.0	B	0.11329	0.006	T	0.31166	-0.9953	10	0.02654	T	1	.	6.6762	0.23095	0.5439:0.1212:0.3349:0.0	.	417	Q9UPZ6	THS7A_HUMAN	E	417	ENSP00000406482:D417E	ENSP00000262042:D417E	D	-	3	2	THSD7A	11599426	0.000000	0.05858	0.185000	0.23176	0.032000	0.12392	-0.361000	0.07612	-0.210000	0.10140	-0.361000	0.07541	GAT	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325944.4		-	ENST00000423059.4	Missense_Mutation	SNP	7 : 11632901 - 11632901 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	255	55
HMCN1	83872	broad.mit.edu	37	1	185992272	185992272	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:185992272A>G	ENST00000271588.4	+	36	5965	c.5736A>G	c.(5734-5736)caA>caG	p.Q1912Q	HMCN1_ENST00000367492.2_Silent_p.Q1912Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1912	Ig-like C2-type 16.				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						AGCACATTCAACTGCATGTTC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	110	111			NA	NA	1		NA											NA				185992272		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.5736A>G	1.37:g.185992272A>G		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 : 185992272 - 185992272 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	451	99
PILRB	29990	broad.mit.edu	37	7	99957138	99957138	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99957138C>T	ENST00000448382.1	+	8	1907	c.790C>T	c.(790-792)Cct>Tct	p.P264S	PILRB_ENST00000609309.1_Silent_p.L211L|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000610247.1_Silent_p.L211L|PILRB_ENST00000452089.1_Silent_p.L211L|PILRB_ENST00000444073.1_Silent_p.L211L			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	0					activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCTCCTCCTCCTGTGGTGGA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4403	2.1+/-5.4	0,1,2201	76	83	80		633	NA	0.1	7		80	0,8600		0,0,4300	no	coding-synonymous	PILRB	NM_178238.2		0,1,6501	TT,TC,CC	NA	0.0,0.0227,0.0077		211/228	99957138	1,13003	2202	4300	6502	SO:0001583	missense			AF161081, AJ400845	CCDS43622.1	7q22.1	2014-05-16			ENSG00000121716	ENSG00000121716	29990	29990		Immunoglobulin superfamily / V-set domain containing	18297	protein-coding gene	gene with protein product		605342			NA	10660620	Standard	NM_178238	NM_178238	NA	Approved	FDFACT1, FDFACT2	uc022ail.1	Q9UKJ0	OTTHUMG00000155363	ENST00000448382.1:c.790C>T	7.37:g.99957138C>T	ENSP00000415775:p.Pro264Ser	NA	Q69YF9|Q9HBS0	37		.	.	.	.	.	.	.	.	.	.	C	1.680	-0.506765	0.04231	2.27E-4	0.0	ENSG00000121716	ENST00000444874;ENST00000448382	.	.	.	.	.	.	.	.	.	.	.	T	0.29321	0.0730	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27262	-1.0079	2	.	.	.	.	.	.	.	.	142	Q9UKJ0-2	.	S	142;264	.	.	P	+	1	0	PILRB	99795074	0.095000	0.21747	0.062000	0.19696	0.007000	0.05969	0.055000	0.14229	0.064000	0.16427	0.064000	0.15345	CCT	PILRB-010	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000339925.2		+	ENST00000448382.1	Missense_Mutation	SNP	7 : 99957138 - 99957138 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	328	63
RYR1	6261	broad.mit.edu	37	19	39058490	39058490	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39058490C>A	ENST00000355481.4	+	92	13708	c.13577C>A	c.(13576-13578)cCt>cAt	p.P4526H	RYR1_ENST00000359596.3_Missense_Mutation_p.P4531H|RYR1_ENST00000360985.3_Missense_Mutation_p.P4526H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4531	Pro-rich.				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)	CCCTCACCCCCTCCAAAGAAG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	74	73			NA	NA	19		NA											NA				39058490		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.13577C>A	19.37:g.39058490C>A	ENSP00000347667:p.Pro4526His	NA	Q16314|Q16368|Q9NPK1|Q9P1U4	37	CCDS42563.1	.	.	.	.	.	.	.	.	.	.	C	9.837	1.190062	0.21954	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.93076	-3.16;-3.16;-3.16	5.06	2.91	0.33838	Ryanodine Receptor TM 4-6 (1);	0.366933	0.23894	U	0.043517	D	0.89248	0.6661	L	0.60455	1.87	0.22412	N	0.999127	B;B	0.12630	0.004;0.006	B;B	0.09377	0.003;0.004	T	0.76446	-0.2956	10	0.23891	T	0.37	.	7.9499	0.30008	0.1595:0.7556:0.0:0.0849	.	4526;4531	P21817-2;P21817	.;RYR1_HUMAN	H	4531;4526;4526	ENSP00000352608:P4531H;ENSP00000347667:P4526H;ENSP00000354254:P4526H	ENSP00000347667:P4526H	P	+	2	0	RYR1	43750330	0.577000	0.26708	0.987000	0.45799	0.855000	0.48748	0.837000	0.27558	0.711000	0.32018	0.491000	0.48974	CCT	RYR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461017.2		+	ENST00000355481.4	Missense_Mutation	SNP	19 : 39058490 - 39058490 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	430	77
NIPAL4	348938	broad.mit.edu	37	5	156890321	156890321	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156890321C>A	ENST00000311946.7	+	2	559	c.443C>A	c.(442-444)gCc>gAc	p.A148D	ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Missense_Mutation_p.A148D|NIPAL4_ENST00000521390.1_3'UTR	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	148						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CGACTCGTGGCCACGGGAGCC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ASP/ALA,ASP/ALA	6,3900		0,6,1947	20	24	23		443,443	2.9	0.8	5		23	0,8304		0,0,4152	yes	missense,missense	NIPAL4	NM_001099287.1,NM_001172292.1	126,126	0,6,6099	AA,AC,CC	NA	0.0,0.1536,0.0491	benign,benign	148/467,148/448	156890321	6,12204	1953	4152	6105	SO:0001583	missense			AK026158	CCDS47328.1, CCDS54944.1	5q33.3	2009-03-24	2009-03-24		ENSG00000172548	ENSG00000172548	348938	348938			28018	protein-coding gene	gene with protein product	ichthyin	609383	NIPA-like 4		NA	8619474, 9110174, 15317751	Standard	NM_001099287	NM_001099287	NA	Approved	ICHYN	uc003lwx.4	Q0D2K0	OTTHUMG00000163497	ENST00000311946.7:c.443C>A	5.37:g.156890321C>A	ENSP00000311687:p.Ala148Asp	NA	A8S6F1|A8S6F5|A8S6F8|B4DLF3|Q0D2J8|Q0D2J9	37	CCDS47328.1	.	.	.	.	.	.	.	.	.	.	C	2.770	-0.255790	0.05829	0.001536	0.0	ENSG00000172548	ENST00000435489;ENST00000311946	T;D	0.90563	-0.52;-2.69	4.92	2.87	0.33458	.	0.690165	0.15240	N	0.272921	D	0.83248	0.5213	L	0.28694	0.88	0.22728	N	0.998805	B;B	0.16166	0.013;0.016	B;B	0.12156	0.007;0.007	T	0.68443	-0.5407	10	0.22109	T	0.4	-6.1498	10.8222	0.46612	0.1923:0.7013:0.1064:0.0	.	148;148	Q0D2K0-2;Q0D2K0	.;NIPA4_HUMAN	D	148	ENSP00000406456:A148D;ENSP00000311687:A148D	ENSP00000311687:A148D	A	+	2	0	NIPAL4	156822899	0.999000	0.42202	0.758000	0.31321	0.164000	0.22412	0.741000	0.26202	1.032000	0.39892	0.561000	0.74099	GCC	NIPAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373789.1		+	ENST00000311946.7	Missense_Mutation	SNP	5 : 156890321 - 156890321 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	264	37
COL7A1	1294	broad.mit.edu	37	3	48619008	48619008	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48619008G>A	ENST00000328333.8	-	49	4887	c.4780C>T	c.(4780-4782)Cgg>Tgg	p.R1594W	COL7A1_ENST00000454817.1_Missense_Mutation_p.R1594W	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1594	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGATTCACCCGGTCTCCAGGG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	101	106	104		4780	-2	0.2	3		104	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL7A1	NM_000094.3	101	0,2,6501	AA,AG,GG	NA	0.0116,0.0227,0.0154	probably-damaging	1594/2945	48619008	2,13004	2203	4300	6503	SO:0001583	missense			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270	1294	1294		Collagens, Fibronectin type III domain containing	2214	protein-coding gene	gene with protein product	collagen VII, alpha-1 polypeptide, LC collagen	120120	epidermolysis bullosa, dystrophic, dominant and recessive	EBDCT, EBD1, EBR1	NA	1871109	Standard	NM_000094	NM_000094	NA	Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.4780C>T	3.37:g.48619008G>A	ENSP00000332371:p.Arg1594Trp	NA	Q14054|Q16507	37	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.454391	0.43634	2.27E-4	1.16E-4	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.94376	-3.41;-3.41	5.25	-1.97	0.07503	.	0.000000	0.42548	D	0.000689	D	0.95762	0.8621	M	0.78916	2.43	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	D	0.92216	0.5780	10	0.72032	D	0.01	.	15.715	0.77661	0.0:0.0:0.2756:0.7244	.	1594	Q02388	CO7A1_HUMAN	W	1594	ENSP00000332371:R1594W;ENSP00000412569:R1594W	ENSP00000332371:R1594W	R	-	1	2	COL7A1	48594012	0.393000	0.25237	0.249000	0.24280	0.176000	0.22953	0.247000	0.18179	-0.359000	0.08150	-0.183000	0.12914	CGG	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257519.1		-	ENST00000328333.8	Missense_Mutation	SNP	3 : 48619008 - 48619008 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	510	106
CPT1C	126129	broad.mit.edu	37	19	50216321	50216321	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50216321G>A	ENST00000392518.4	+	19	2598	c.2226G>A	c.(2224-2226)acG>acA	p.T742T	CPT1C_ENST00000354199.5_Splice_Site_p.T653T|CPT1C_ENST00000405931.2_Splice_Site_p.T731T|CPT1C_ENST00000598293.1_Splice_Site_p.T742T|CPT1C_ENST00000323446.5_Splice_Site_p.T742T	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	742					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GCACAAAAACGGTGAGACAAA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	150	159			NA	NA	19		NA											NA				50216321		2203	4300	6503	SO:0001630	splice_region_variant			AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169	126129	126129			18540	protein-coding gene	gene with protein product		608846			NA	12376098, 11001805	Standard	NM_152359	NM_001136052	NA	Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.2226+1G>A	19.37:g.50216321G>A		NA	Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	37	CCDS12779.1																																																																																			CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465873.1	Silent	+	ENST00000392518.4	Splice_Site	SNP	19 : 50216321 - 50216321 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	888	179
SOBP	55084	broad.mit.edu	37	6	107854756	107854756	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107854756G>T	ENST00000317357.5	+	4	1174	c.515G>T	c.(514-516)aGc>aTc	p.S172I		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	172							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GAGGTGAAAAGCTTCTGCAGC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	125	123			NA	NA	6		NA											NA				107854756		1952	4149	6101	SO:0001583	missense			AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320	55084	55084			29256	protein-coding gene	gene with protein product		613667			NA		Standard	NM_018013	NM_018013	NA	Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.515G>T	6.37:g.107854756G>T	ENSP00000318900:p.Ser172Ile	NA	B0QZ12|Q5BJD4|Q8N2B2	37	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725865	0.69074	.	.	ENSG00000112320	ENST00000317357	T	0.24538	1.85	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.17450	0.0419	N	0.20685	0.6	0.80722	D	1	P	0.49783	0.928	P	0.51135	0.66	T	0.02365	-1.1170	10	0.23891	T	0.37	-14.0437	19.5093	0.95135	0.0:0.0:1.0:0.0	.	172	A7XYQ1	SOBP_HUMAN	I	172	ENSP00000318900:S172I	ENSP00000318900:S172I	S	+	2	0	SOBP	107961449	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.471000	0.97696	2.615000	0.88500	0.467000	0.42956	AGC	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041693.2		+	ENST00000317357.5	Missense_Mutation	SNP	6 : 107854756 - 107854756 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	920	187
LRRTM3	347731	broad.mit.edu	37	10	68686880	68686880	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:68686880G>A	ENST00000361320.4	+	2	784	c.206G>A	c.(205-207)cGc>cAc	p.R69H	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	69						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TTGTCCCTTCGCTATAACAGC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	114	113			NA	NA	10		NA											NA				68686880		2203	4300	6503	SO:0001583	missense			BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739	347731	347731			19410	protein-coding gene	gene with protein product		610869			NA	12676565	Standard	NM_178011	XR_247527	NA	Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.206G>A	10.37:g.68686880G>A	ENSP00000355187:p.Arg69His	NA	A8K2A3|Q2NKX7|Q6N0A3	37	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621851	0.66787	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.58797	0.31	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000004	T	0.65270	0.2675	N	0.21240	0.645	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.97110	0.978;1.0	T	0.64859	-0.6308	10	0.39692	T	0.17	.	18.2412	0.89968	0.0:0.0:1.0:0.0	.	69;69	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	H	69	ENSP00000355187:R69H	ENSP00000355187:R69H	R	+	2	0	LRRTM3	68356886	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.613000	0.88420	0.655000	0.94253	CGC	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048277.2		+	ENST00000361320.4	Missense_Mutation	SNP	10 : 68686880 - 68686880 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	499	100
MYO6	4646	broad.mit.edu	37	6	76623953	76623953	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76623953C>T	ENST00000369985.4	+	32	3806	c.3544C>T	c.(3544-3546)Caa>Taa	p.Q1182*	MYO6_ENST00000369977.3_Nonsense_Mutation_p.Q1205*|MYO6_ENST00000369981.3_Nonsense_Mutation_p.Q1206*|MYO6_ENST00000369975.1_Nonsense_Mutation_p.Q1173*			Q9UM54	MYO6_HUMAN	myosin VI	1214					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GATTGCCCGGCAAATGGAACT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	133	133			NA	NA	6		NA											NA				76623953		2203	4300	6503	SO:0001587	stop_gained			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586	4646	4646		Myosins / Myosin superfamily : Class VI	7605	protein-coding gene	gene with protein product		600970	deafness, autosomal recessive 37	DFNA22, DFNB37	NA	9259267, 11468689	Standard	NM_004999	XM_005248719	NA	Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369985.4:c.3544C>T	6.37:g.76623953C>T	ENSP00000359002:p.Gln1182*	NA	A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	37		.	.	.	.	.	.	.	.	.	.	C	43	10.432314	0.99404	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8031	0.96516	0.0:1.0:0.0:0.0	.	.	.	.	X	1215;1206;1182;1205;1173	.	ENSP00000358992:Q1173X	Q	+	1	0	MYO6	76680673	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	7.462000	0.80851	2.672000	0.90937	0.655000	0.94253	CAA	MYO6-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000041278.2		+	ENST00000369985.4	Nonsense_Mutation	SNP	6 : 76623953 - 76623953 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	960	157
RP11-382J12.1	0	broad.mit.edu	37	8	71553220	71553220	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71553220G>A	ENST00000499227.2	+	2	257				LACTB2_ENST00000522447.1_Nonsense_Mutation_p.R220*|LACTB2_ENST00000276590.4_Nonsense_Mutation_p.R220*|LACTB2_ENST00000517601.1_Intron|RP11-382J12.1_ENST00000518553.1_Intron						NA								p.R220*(1)			NA						TGCTGCTCTCGAATATTTCTG	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Nonsense(1)	endometrium(1)											39	40	40			NA	NA	8		NA											NA				71553220		2201	4285	6486	SO:0001627	intron_variant											NA	NA			NA							NA					NA						ENST00000499227.2:c.-741-10828G>A	8.37:g.71553220G>A		NA		37		.	.	.	.	.	.	.	.	.	.	G	23.1	4.373569	0.82573	.	.	ENSG00000147592	ENST00000522447;ENST00000276590	.	.	.	5.75	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.0669	14.9984	0.71451	0.0684:0.0:0.9316:0.0	.	.	.	.	X	220	.	ENSP00000276590:R220X	R	-	1	2	LACTB2	71715774	1.000000	0.71417	0.890000	0.34922	0.704000	0.40688	6.100000	0.71473	1.448000	0.47680	-0.169000	0.13324	CGA	RP11-382J12.1-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000378742.2		+	ENST00000499227.2	Intron	SNP	8 : 71553220 - 71553220 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	141	28
ZNF625	90589	broad.mit.edu	37	19	12256281	12256281	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12256281T>C	ENST00000439556.2	-	4	1120	c.950A>G	c.(949-951)cAc>cGc	p.H317R	ZNF625_ENST00000355738.1_Missense_Mutation_p.H251R|ZNF625_ENST00000542938.1_Missense_Mutation_p.H251R|ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000455799.1_3'UTR			Q96I27	ZN625_HUMAN	zinc finger protein 625	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						TGTTCGAAGGTGCGAGGCAGA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	116	117			NA	NA	19		NA											NA				12256281		2203	4300	6503	SO:0001583	missense			BC007868	CCDS12269.1, CCDS12269.2	19p13.2	2013-01-08			ENSG00000257591	ENSG00000257591	90589	90589		Zinc fingers, C2H2-type, -	30571	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_145233	NM_145233	NA	Approved		uc010dyo.2	Q96I27	OTTHUMG00000156407	ENST00000439556.2:c.950A>G	19.37:g.12256281T>C	ENSP00000394380:p.His317Arg	NA	A4FU45	37	CCDS12269.2	.	.	.	.	.	.	.	.	.	.	T	9.889	1.203583	0.22121	.	.	ENSG00000257591	ENST00000542938;ENST00000355738;ENST00000439556	T;T;T	0.12984	2.63;2.63;2.63	1.13	-1.87	0.07737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07683	0.0193	L	0.38692	1.165	0.09310	N	1	B;P	0.36162	0.011;0.54	B;B	0.34093	0.004;0.175	T	0.30031	-0.9992	9	0.25751	T	0.34	.	2.0453	0.03559	0.4188:0.0:0.3046:0.2765	.	251;251	A8K8U0;Q96I27	.;ZN625_HUMAN	R	251;251;317	ENSP00000438436:H251R;ENSP00000347977:H251R;ENSP00000394380:H317R	ENSP00000347977:H251R	H	-	2	0	AC022415.5	12117281	0.000000	0.05858	0.000000	0.03702	0.873000	0.50193	-8.705000	0.00017	-0.491000	0.06697	0.260000	0.18958	CAC	ZNF625-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344095.2		-	ENST00000439556.2	Missense_Mutation	SNP	19 : 12256281 - 12256281 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	698	125
C6orf201	404220	broad.mit.edu	37	6	4130619	4130619	+	Missense_Mutation	SNP	G	G	A	rs149056651	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:4130619G>A	ENST00000380175.4	+	5	1367				C6orf201_ENST00000333388.5_Intron|ECI2_ENST00000413766.2_5'UTR|ECI2_ENST00000380125.2_Missense_Mutation_p.A133V|ECI2_ENST00000380118.3_Missense_Mutation_p.A163V|ECI2_ENST00000465828.1_Missense_Mutation_p.A133V|ECI2_ENST00000361538.2_Missense_Mutation_p.A133V	NM_001085401.2	NP_001078870.1	Q7Z4U5	CF201_HUMAN	chromosome 6 open reading frame 201	NA										central_nervous_system(1)|endometrium(3)|lung(2)	6	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AGTGTTTATGGCATTTTTCTT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													183	156	165			NA	NA	6		NA											NA				4130619		2203	4300	6503	SO:0001627	intron_variant			BC047663	CCDS43419.1	6p25.2	2012-02-21			ENSG00000185689	ENSG00000185689	404220	404220			21620	protein-coding gene	gene with protein product					NA		Standard	NM_001085401	NM_001085401	NA	Approved	dJ1013A10.5	uc003mwa.4	Q7Z4U5	OTTHUMG00000014160	ENST00000380175.4:c.420+24G>A	6.37:g.4130619G>A		NA	A6NLI6|Q6NXN5	37	CCDS43419.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937167	0.73557	.	.	ENSG00000198721	ENST00000380118;ENST00000380125;ENST00000361538;ENST00000465828;ENST00000495548	T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.45	5.95	5.95	0.96441	Crotonase, core (1);	0.336949	0.34291	N	0.004084	D	0.82375	0.5023	H	0.98542	4.26	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88447	0.3046	10	0.87932	D	0	.	17.8792	0.88835	0.0:0.0:1.0:0.0	.	163	O75521	ECI2_HUMAN	V	163;133;133;133;210	ENSP00000369461:A163V;ENSP00000369468:A133V;ENSP00000354737:A133V;ENSP00000420309:A133V;ENSP00000417459:A210V	ENSP00000354737:A133V	A	-	2	0	ECI2	4075618	1.000000	0.71417	0.652000	0.29579	0.193000	0.23685	7.516000	0.81772	2.825000	0.97269	0.655000	0.94253	GCC	C6orf201-001	KNOWN	NMD_exception|basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000314019.2		+	ENST00000380175.4	Intron	SNP	6 : 4130619 - 4130619 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	254	53
BPIFB1	92747	broad.mit.edu	37	20	31885345	31885345	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31885345C>T	ENST00000253354.1	+	7	773	c.612C>T	c.(610-612)atC>atT	p.I204I		NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	204						extracellular space	lipid binding				NA						GTCCCGTGATCGAGGCTTCCT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													202	164	177			NA	NA	20		NA											NA				31885345		2203	4300	6503	SO:0001819	synonymous_variant			BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999	92747	92747		BPI fold containing	16108	protein-coding gene	gene with protein product	von Ebner minor salivary gland protein		chromosome 20 open reading frame 114	C20orf114	NA	11971875, 21787333	Standard	NM_033197	NM_033197	NA	Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.612C>T	20.37:g.31885345C>T		NA	A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	37	CCDS13218.1																																																																																			BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000106499.2		+	ENST00000253354.1	Silent	SNP	20 : 31885345 - 31885345 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	522	52
MYT1	4661	broad.mit.edu	37	20	62863731	62863731	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62863731C>T	ENST00000328439.1	+	19	3254	c.2890C>T	c.(2890-2892)Cac>Tac	p.H964Y	MYT1_ENST00000536311.1_Missense_Mutation_p.H991Y	NM_004535.2	NP_004526.1	Q01538	MYT1_HUMAN	myelin transcription factor 1	964					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TTTCCTCACCCACCGGAGGTA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(59;481 1041 20555 21139 33705)							NA				0													34	37	36			NA	NA	20		NA											NA				62863731		2202	4295	6497	SO:0001583	missense			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132	4661	4661		Zinc fingers, C2HC-type containing	7622	protein-coding gene	gene with protein product	neural zinc finger transcription factor 2	600379		PLPB1	NA	1280325, 9268380	Standard	NM_004535	NM_004535	NA	Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.2890C>T	20.37:g.62863731C>T	ENSP00000327465:p.His964Tyr	NA	E1P5H0|O94922|Q9UPV2	37	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550199	0.65311	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.60171	0.26;0.21	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.80829	0.4698	M	0.89785	3.06	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.993;1.0	D	0.85943	0.1459	10	0.87932	D	0	-21.1337	17.4785	0.87667	0.0:1.0:0.0:0.0	.	991;964	F5H7M8;Q01538	.;MYT1_HUMAN	Y	964;991	ENSP00000327465:H964Y;ENSP00000442412:H991Y	ENSP00000327465:H964Y	H	+	1	0	MYT1	62334175	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.615000	0.83006	2.132000	0.65825	0.467000	0.42956	CAC	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080297.1		+	ENST00000328439.1	Missense_Mutation	SNP	20 : 62863731 - 62863731 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	328	62
ASIC4	55515	broad.mit.edu	37	2	220379823	220379823	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220379823C>T	ENST00000358078.4	+	1	772	c.758C>T	c.(757-759)tCg>tTg	p.S253L	AC053503.11_ENST00000429882.1_RNA|ASIC4_ENST00000347842.3_Missense_Mutation_p.S253L			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	253						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity				NA						TTCCGGCATTCGGCACTCAGC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	38	39			NA	NA	2		NA											NA				220379823		2203	4300	6503	SO:0001583	missense			AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182	55515	55515		Ion channels / Acid-sensing (proton-gated) ion channels	21263	protein-coding gene	gene with protein product		606715	amiloride-sensitive cation channel 4, pituitary, amiloride-sensitive cation channel family member 4, pituitary	ACCN4	NA	10852210	Standard	NM_018674	NM_182847	NA	Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000358078.4:c.758C>T	2.37:g.220379823C>T	ENSP00000350786:p.Ser253Leu	NA	Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	37		.	.	.	.	.	.	.	.	.	.	C	19.15	3.772509	0.69992	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.70045	-0.45;-0.45	4.69	4.69	0.59074	.	0.376783	0.23750	N	0.044926	T	0.81187	0.4770	M	0.91354	3.2	0.80722	D	1	P;P;P	0.52842	0.722;0.956;0.956	B;P;B	0.51806	0.241;0.68;0.161	D	0.86523	0.1817	10	0.72032	D	0.01	-6.7538	17.4292	0.87534	0.0:1.0:0.0:0.0	.	253;253;253	Q96FT7;Q96FT7-4;Q96FT7-2	ACCN4_HUMAN;.;.	L	253	ENSP00000326627:S253L;ENSP00000350786:S253L	ENSP00000326627:S253L	S	+	2	0	ACCN4	220088067	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.797000	0.69087	2.431000	0.82371	0.655000	0.94253	TCG	ASIC4-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000130266.1		+	ENST00000358078.4	Missense_Mutation	SNP	2 : 220379823 - 220379823 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	400	125
DCHS2	54798	broad.mit.edu	37	4	155254428	155254428	+	Missense_Mutation	SNP	C	C	A	rs72966167	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155254428C>A	ENST00000357232.4	-	9	1434	c.1435G>T	c.(1435-1437)Gcg>Tcg	p.A479S	DCHS2_ENST00000339452.1_Missense_Mutation_p.A978S|DCHS2_ENST00000507542.1_5'UTR	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	NA	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTGAGGAACGCTGGGTGGTTG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	103	108			NA	NA	4		NA											NA				155254428		2203	4300	6503	SO:0001583	missense			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410	54798	54798		Cadherins / Cadherin-related	23111	protein-coding gene	gene with protein product	cadherin-related family member 7	612486	cadherin-like 27, dachsous 2 (Drosophila)	CDH27, PCDH23	NA	15003449	Standard	NM_001142552	NM_017639	NA	Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1435G>T	4.37:g.155254428C>A	ENSP00000349768:p.Ala479Ser	NA	Q4W5P9|Q6ZS61|Q9NXU8	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.236531	0.39498	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.60920	0.15;0.15	5.63	1.44	0.22558	Cadherin (2);Cadherin-like (1);	1.665360	0.03486	N	0.215819	T	0.42653	0.1212	N	0.12920	0.275	0.19300	N	0.999973	B;B	0.24533	0.025;0.105	B;B	0.21708	0.022;0.036	T	0.28332	-1.0047	10	0.24483	T	0.36	.	10.6812	0.45815	0.0:0.6636:0.0:0.3364	.	978;479	E9PC11;Q6V1P9	.;PCD23_HUMAN	S	479;978;978	ENSP00000349768:A479S;ENSP00000345062:A978S	ENSP00000345062:A978S	A	-	1	0	DCHS2	155473878	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.985000	0.29578	0.341000	0.23771	-0.244000	0.11960	GCG	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365281.2		-	ENST00000357232.4	Missense_Mutation	SNP	4 : 155254428 - 155254428 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	532	25
PHPT1	29085	broad.mit.edu	37	9	139743961	139743961	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139743961G>A	ENST00000371661.1	+	2	456	c.79G>A	c.(79-81)Gtc>Atc	p.V27I	PHPT1_ENST00000247665.10_Missense_Mutation_p.V27I|PHPT1_ENST00000492540.1_3'UTR|PHPT1_ENST00000545326.1_Missense_Mutation_p.V27I			Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1	27				V -> I (in Ref. 4; CAB66579).		cytosol	phosphohistidine phosphatase activity|phosphoprotein phosphatase activity			NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GCTGATCCGAGTCCACTCGGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	76	76			NA	NA	9		NA											NA				139743961		2202	4300	6502	SO:0001583	missense			AF131857	CCDS7009.1, CCDS48060.1	9q34.3	2008-02-05			ENSG00000054148	ENSG00000054148	29085	29085	3.1.3.-		30033	protein-coding gene	gene with protein product	phosphohistidine phosphatase 14kDa,  sex-regulated protein janus-a	610167			NA	11042152, 8619474	Standard	NM_014172	NM_014172	NA	Approved	PHP14, HSPC141, CGI-202, DKFZp564M173, bA216L13.10	uc004cjq.4	Q9NRX4	OTTHUMG00000020950	ENST00000371661.1:c.79G>A	9.37:g.139743961G>A	ENSP00000360724:p.Val27Ile	NA	B1AMX0|B1AMX1|Q9H0Y3	37	CCDS48060.1	.	.	.	.	.	.	.	.	.	.	.	16.80	3.222829	0.58668	.	.	ENSG00000054148	ENST00000371661;ENST00000545326;ENST00000247665	.	.	.	4.23	3.34	0.38264	.	0.000000	0.85682	U	0.000000	T	0.67011	0.2848	M	0.62266	1.93	0.54753	D	0.999984	D;D	0.69078	0.997;0.965	D;P	0.66084	0.941;0.774	T	0.63363	-0.6654	9	0.26408	T	0.33	-4.684	10.0652	0.42299	0.1011:0.0:0.8989:0.0	.	27;27	Q9NRX4-2;Q9NRX4	.;PHP14_HUMAN	I	27	.	ENSP00000247665:V27I	V	+	1	0	PHPT1	138863782	0.998000	0.40836	0.987000	0.45799	0.401000	0.30781	1.948000	0.40303	1.004000	0.39156	-0.452000	0.05504	GTC	PHPT1-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055152.2		+	ENST00000371661.1	Missense_Mutation	SNP	9 : 139743961 - 139743961 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	474	85
ATG7	10533	broad.mit.edu	37	3	11340313	11340313	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:11340313G>T	ENST00000354449.3	+	2	169	c.144G>T	c.(142-144)aaG>aaT	p.K48N	ATG7_ENST00000446450.2_Missense_Mutation_p.K48N|ATG7_ENST00000469654.2_3'UTR|ATG7_ENST00000354956.5_Missense_Mutation_p.K48N	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	48					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						AGGACATTAAGGGTTATTACT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	158	161			NA	NA	3		NA											NA				11340313		2203	4300	6503	SO:0001583	missense			AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548	10533	10533		Ubiquitin-like modifier activating enzymes	16935	protein-coding gene	gene with protein product	ubiquitin-activating enzyme E1-like protein	608760	APG7 autophagy 7-like (S. cerevisiae), ATG7 autophagy related 7 homolog (S. cerevisiae)	APG7L	NA	10233149	Standard	NM_006395	NM_006395	NA	Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.144G>T	3.37:g.11340313G>T	ENSP00000346437:p.Lys48Asn	NA	Q7L8L0|Q9BWP2|Q9UFH4	37	CCDS2605.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.492548	0.44352	.	.	ENSG00000197548	ENST00000451513;ENST00000435760;ENST00000451830;ENST00000444619;ENST00000446450;ENST00000354956;ENST00000354449;ENST00000419112;ENST00000423116	T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.38214	0.1032	L	0.52905	1.665	0.52099	D	0.999946	B;B;B	0.33266	0.215;0.404;0.282	B;B;B	0.32677	0.07;0.15;0.072	T	0.10730	-1.0617	10	0.13853	T	0.58	-24.377	14.969	0.71217	0.0693:0.0:0.9307:0.0	.	48;48;48	E9PB95;O95352-2;O95352	.;.;ATG7_HUMAN	N	48	ENSP00000415223:K48N;ENSP00000390547:K48N;ENSP00000411880:K48N;ENSP00000389996:K48N;ENSP00000412580:K48N;ENSP00000347042:K48N;ENSP00000346437:K48N;ENSP00000408303:K48N;ENSP00000416644:K48N	ENSP00000346437:K48N	K	+	3	2	ATG7	11315313	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.722000	0.47269	2.941000	0.99782	0.655000	0.94253	AAG	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251951.3		+	ENST00000354449.3	Missense_Mutation	SNP	3 : 11340313 - 11340313 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	862	115
KRT31	3881	broad.mit.edu	37	17	39551317	39551317	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39551317C>T	ENST00000251645.2	-	6	932	c.880G>A	c.(880-882)Gac>Aac	p.D294N		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	294	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TCCAGAGAGTCTCGCTGTGGT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	49	49			NA	NA	17		NA											NA				39551317		2203	4300	6503	SO:0001583	missense			X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796	3881	3881		-, Intermediate filaments type I, keratins (acidic)	6448	protein-coding gene	gene with protein product	hard keratin type I 1	601077	keratin, hair, acidic, 1	KRTHA1	NA	7578244, 16831889	Standard	NM_002277	NM_002277	NA	Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.880G>A	17.37:g.39551317C>T	ENSP00000251645:p.Asp294Asn	NA	Q9UE12	37	CCDS11391.1	.	.	.	.	.	.	.	.	.	.	c	9.320	1.057790	0.19907	.	.	ENSG00000094796	ENST00000251645	D	0.89123	-2.47	5.62	-0.748	0.11087	Filament (1);	0.271361	0.32671	N	0.005792	T	0.77452	0.4132	N	0.25144	0.715	0.21355	N	0.999718	B	0.02656	0.0	B	0.04013	0.001	T	0.62172	-0.6910	10	0.24483	T	0.36	.	9.9863	0.41843	0.0:0.3794:0.0:0.6206	.	294	Q15323	K1H1_HUMAN	N	294	ENSP00000251645:D294N	ENSP00000251645:D294N	D	-	1	0	KRT31	36804843	0.000000	0.05858	0.865000	0.33974	0.439000	0.31926	-0.763000	0.04740	0.100000	0.17581	-0.355000	0.07637	GAC	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257286.1		-	ENST00000251645.2	Missense_Mutation	SNP	17 : 39551317 - 39551317 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	284	58
AHNAK	79026	broad.mit.edu	37	11	62291895	62291895	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62291895G>T	ENST00000378024.4	-	5	10268	c.9994C>A	c.(9994-9996)Cca>Aca	p.P3332T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3332					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCACTTCTGGGCCCTTTATA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	49	50			NA	NA	11		NA											NA				62291895		2202	4299	6501	SO:0001583	missense			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942	79026	79026			347	protein-coding gene	gene with protein product	desmoyokin	103390	AHNAK nucleoprotein (desmoyokin)		NA	7987395, 12153988	Standard	NM_024060	NM_024060	NA	Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.9994C>A	11.37:g.62291895G>T	ENSP00000367263:p.Pro3332Thr	NA		37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.734589	0.30774	.	.	ENSG00000124942	ENST00000378024	T	0.05649	3.41	4.37	4.37	0.52481	.	.	.	.	.	T	0.37265	0.0997	H	0.96720	3.87	0.30628	N	0.757809	D	0.89917	1.0	D	0.85130	0.997	T	0.56038	-0.8045	9	0.66056	D	0.02	.	12.4383	0.55612	0.0:0.1695:0.8305:0.0	.	3332	Q09666	AHNK_HUMAN	T	3332	ENSP00000367263:P3332T	ENSP00000367263:P3332T	P	-	1	0	AHNAK	62048471	1.000000	0.71417	0.983000	0.44433	0.383000	0.30230	7.257000	0.78362	1.975000	0.57531	0.305000	0.20034	CCA	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395572.1		-	ENST00000378024.4	Missense_Mutation	SNP	11 : 62291895 - 62291895 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	261	56
SLC12A3	6559	broad.mit.edu	37	16	56926867	56926867	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56926867G>T	ENST00000438926.2	+	21	2478	c.2449G>T	c.(2449-2451)Gac>Tac	p.D817Y	SLC12A3_ENST00000262502.5_Missense_Mutation_p.D807Y|SLC12A3_ENST00000566786.1_Missense_Mutation_p.D816Y|SLC12A3_ENST00000563236.1_Missense_Mutation_p.D808Y	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	808					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCCTGCAGTGGACCCCAAGGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	53	60			NA	NA	16		NA											NA				56926867		2198	4300	6498	SO:0001583	missense				CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915	NA	6559		Solute carriers	10912	protein-coding gene	gene with protein product		600968			NA	8812482	Standard		NM_000339	NA	Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000438926.2:c.2449G>T	16.37:g.56926867G>T	ENSP00000402152:p.Asp817Tyr	NA	A8MSJ2|C9JNN9	37	CCDS10770.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.383581	0.25031	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.09	1.48	0.22813	.	0.794787	0.11471	N	0.560748	T	0.66187	0.2764	M	0.77313	2.365	0.36043	D	0.840258	P;P;P	0.41673	0.759;0.712;0.512	P;B;B	0.49953	0.627;0.429;0.391	T	0.70590	-0.4830	9	0.62326	D	0.03	.	8.3943	0.32548	0.1684:0.133:0.6986:0.0	.	816;808;817	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	Y	816;817	.	ENSP00000262502:D817Y	D	+	1	0	SLC12A3	55484368	1.000000	0.71417	0.972000	0.41901	0.205000	0.24178	3.972000	0.56838	0.529000	0.28599	0.561000	0.74099	GAC	SLC12A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257064.2		+	ENST00000438926.2	Missense_Mutation	SNP	16 : 56926867 - 56926867 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	195	33
UGGT1	56886	broad.mit.edu	37	2	128927887	128927887	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128927887G>T	ENST00000259253.6	+	27	2994	c.2947G>T	c.(2947-2949)Ggg>Tgg	p.G983W	UGGT1_ENST00000375990.3_Missense_Mutation_p.G959W	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	983					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GCCGAAGGAAGGGGAGACATA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	120	131			NA	NA	2		NA											NA				128927887		2203	4300	6503	SO:0001583	missense			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731	56886	56886			15663	protein-coding gene	gene with protein product		605897	UDP-glucose ceramide glucosyltransferase-like 1	UGCGL1	NA	10694380	Standard	NM_020120	NM_020120	NA	Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.2947G>T	2.37:g.128927887G>T	ENSP00000259253:p.Gly983Trp	NA	Q53QP2|Q53SL3|Q8IW30|Q9H8I4	37	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232550	0.79688	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.30448	1.53;1.53	6.17	4.04	0.47022	.	0.204121	0.52532	N	0.000075	T	0.45975	0.1369	L	0.55481	1.735	0.50467	D	0.999876	D;D	0.56035	0.971;0.974	P;D	0.63877	0.649;0.919	T	0.34925	-0.9809	9	.	.	.	.	12.3439	0.55109	0.0698:0.0:0.8083:0.122	.	959;983	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	W	959;983	ENSP00000365158:G959W;ENSP00000259253:G983W	.	G	+	1	0	UGGT1	128644357	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	5.106000	0.64597	1.584000	0.49913	0.655000	0.94253	GGG	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254435.2		+	ENST00000259253.6	Missense_Mutation	SNP	2 : 128927887 - 128927887 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	40
FADS3	3995	broad.mit.edu	37	11	61645639	61645639	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61645639A>G	ENST00000527697.1	-	6	775	c.424T>C	c.(424-426)Tac>Cac	p.Y142H	FADS3_ENST00000525588.1_Missense_Mutation_p.Y238H|FADS3_ENST00000278829.2_Missense_Mutation_p.Y266H|FADS3_ENST00000540820.1_Missense_Mutation_p.Y266H			Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	266					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGGAAGAAGTACAGGTGCTGC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													257	215	229			NA	NA	11		NA											NA				61645639		2202	4299	6501	SO:0001583	missense				CCDS8013.1	11q12-q13.1	2013-01-25			ENSG00000221968	ENSG00000221968	3995	3995	1.14.19.3	Fatty acid desaturases	3576	protein-coding gene	gene with protein product	delta-9-desaturase	606150		LLCDL3	NA		Standard		NM_021727	NA	Approved	CYB5RP	uc001nsm.3	Q9Y5Q0	OTTHUMG00000167500	ENST00000527697.1:c.424T>C	11.37:g.61645639A>G	ENSP00000431533:p.Tyr142His	NA	O60426	37		.	.	.	.	.	.	.	.	.	.	.	20.9	4.058693	0.76074	.	.	ENSG00000221968	ENST00000527697;ENST00000278829;ENST00000540820;ENST00000525588;ENST00000531956;ENST00000534223	T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49	5.35	4.18	0.49190	Fatty acid desaturase, type 1 (1);	.	.	.	.	D	0.87063	0.6084	H	0.94847	3.59	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.89775	0.3957	9	0.87932	D	0	-10.4061	11.4256	0.50009	0.8493:0.1507:0.0:0.0	.	142;266	E9PKP8;Q9Y5Q0	.;FADS3_HUMAN	H	142;266;266;238;142;142	ENSP00000431533:Y142H;ENSP00000278829:Y266H;ENSP00000439308:Y266H;ENSP00000432206:Y238H;ENSP00000436890:Y142H;ENSP00000434551:Y142H	ENSP00000278829:Y266H	Y	-	1	0	FADS3	61402215	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.605000	0.82844	2.041000	0.60428	0.533000	0.62120	TAC	FADS3-012	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000394834.1		-	ENST00000527697.1	Missense_Mutation	SNP	11 : 61645639 - 61645639 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	825	141
STK38L	23012	broad.mit.edu	37	12	27475324	27475324	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:27475324A>C	ENST00000389032.3	+	14	1500	c.1331A>C	c.(1330-1332)aAa>aCa	p.K444T	STK38L_ENST00000539577.1_Missense_Mutation_p.K351T	NM_015000.3	NP_055815.1	Q9Y2H1	ST38L_HUMAN	serine/threonine kinase 38 like	444	AGC-kinase C-terminal.				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					TATACCTATAAAAGGTTTGAA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	114	111			NA	NA	12		NA											NA				27475324		2203	4300	6503	SO:0001583	missense			AB023182	CCDS31761.1	12p11.23	2014-04-23			ENSG00000211455	ENSG00000211455	23012	23012			17848	protein-coding gene	gene with protein product	nuclear Dbf2-related 2	615836			NA	16488889	Standard	NM_015000	NM_015000	NA	Approved	KIAA0965, NDR2	uc001rhr.3	Q9Y2H1	OTTHUMG00000169284	ENST00000389032.3:c.1331A>C	12.37:g.27475324A>C	ENSP00000373684:p.Lys444Thr	NA	A8K4U0|Q8TBX7	37	CCDS31761.1	.	.	.	.	.	.	.	.	.	.	A	14.12	2.441338	0.43326	.	.	ENSG00000211455	ENST00000389032;ENST00000539577	T;T	0.53857	0.6;0.6	4.93	4.93	0.64822	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.105878	0.64402	D	0.000008	T	0.77705	0.4170	M	0.91354	3.2	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.77557	0.984;0.99	D	0.83676	0.0169	10	0.87932	D	0	.	14.8942	0.70630	1.0:0.0:0.0:0.0	.	351;444	B4E3J8;Q9Y2H1	.;ST38L_HUMAN	T	444;351	ENSP00000373684:K444T;ENSP00000446386:K351T	ENSP00000373684:K444T	K	+	2	0	STK38L	27366591	1.000000	0.71417	0.996000	0.52242	0.015000	0.08874	9.319000	0.96338	1.978000	0.57642	0.377000	0.23210	AAA	STK38L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403297.1		+	ENST00000389032.3	Missense_Mutation	SNP	12 : 27475324 - 27475324 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	793	151
TLN2	83660	broad.mit.edu	37	15	63019326	63019326	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63019326C>T	ENST00000561311.1	+	27	3526	c.3296C>T	c.(3295-3297)gCg>gTg	p.A1099V	TLN2_ENST00000306829.6_Missense_Mutation_p.A1099V			Q9Y4G6	TLN2_HUMAN	talin 2	1099	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ACATCCAAGGCGGTGGGCTCC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	VAL/ALA	0,4406		0,0,2203	86	75	79		3296	4.3	0.5	15		79	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TLN2	NM_015059.2	64	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign	1099/2543	63019326	1,13005	2203	4300	6503	SO:0001583	missense			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914	83660	83660			15447	protein-coding gene	gene with protein product		607349			NA	9205841, 11527381	Standard		NM_015059	NA	Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.3296C>T	15.37:g.63019326C>T	ENSP00000453508:p.Ala1099Val	NA	A6NLB8	37	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569842	0.45798	0.0	1.16E-4	ENSG00000171914	ENST00000306829	T	0.15139	2.45	5.27	4.33	0.51752	.	0.150976	0.64402	D	0.000013	T	0.18383	0.0441	M	0.66506	2.035	0.36145	D	0.84707	P	0.39601	0.68	B	0.31191	0.125	T	0.23297	-1.0192	10	0.33141	T	0.24	-7.9278	15.8286	0.78733	0.0:0.8591:0.1409:0.0	.	1099	Q9Y4G6	TLN2_HUMAN	V	1099	ENSP00000303476:A1099V	ENSP00000303476:A1099V	A	+	2	0	TLN2	60806618	1.000000	0.71417	0.531000	0.27976	0.411000	0.31082	6.092000	0.71414	1.300000	0.44818	0.650000	0.86243	GCG	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257878.2		+	ENST00000561311.1	Missense_Mutation	SNP	15 : 63019326 - 63019326 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	242	43
PTRF	284119	broad.mit.edu	37	17	40557079	40557079	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40557079G>A	ENST00000357037.5	-	2	1218	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	267					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		AGGGTGTGCCGCGTCTTCTCC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	109	113			NA	NA	17		NA											NA				40557079		2203	4300	6503	SO:0001583	missense			AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469	284119	284119			9688	protein-coding gene	gene with protein product		603198			NA	9582279	Standard	NM_012232	NM_012232	NA	Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.799C>T	17.37:g.40557079G>A	ENSP00000349541:p.Arg267Trp	NA	B2RAW7|O00535|Q6GMY1|Q96H74|Q9BT85|Q9HAP4	37	CCDS11425.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.340340	0.60963	.	.	ENSG00000177469	ENST00000357037;ENST00000357684	T	0.66815	-0.23	5.81	3.64	0.41730	.	0.150034	0.41823	D	0.000818	T	0.78233	0.4251	L	0.61218	1.895	0.36143	D	0.846923	D;D	0.89917	1.0;1.0	D;D	0.67231	0.95;0.95	D	0.85280	0.1061	10	0.87932	D	0	-14.7881	15.557	0.76203	0.0:0.0:0.6534:0.3466	.	249;267	B4DNU9;Q6NZI2	.;PTRF_HUMAN	W	267;222	ENSP00000349541:R267W	ENSP00000349541:R267W	R	-	1	2	PTRF	37810605	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	3.337000	0.52120	1.463000	0.47967	-0.289000	0.09944	CGG	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449938.1		-	ENST00000357037.5	Missense_Mutation	SNP	17 : 40557079 - 40557079 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	472	88
IFT80	57560	broad.mit.edu	37	3	160073820	160073820	+	Missense_Mutation	SNP	C	C	T	rs144738877	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160073820C>T	ENST00000326448.7	-	8	1190	c.758G>A	c.(757-759)cGc>cAc	p.R253H	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.R424H|IFT80_ENST00000483465.1_Missense_Mutation_p.R116H|IFT80_ENST00000496589.1_Missense_Mutation_p.R116H	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	253						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATCACACAAGCGTAAAGTATG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	144	132	136		758,347,347	5.4	1	3	dbSNP_134	136	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense,missense	IFT80	NM_020800.2,NM_001190242.1,NM_001190241.1	29,29,29	0,5,6498	TT,TC,CC	NA	0.0581,0.0,0.0384	benign,benign,benign	253/778,116/641,116/641	160073820	5,13001	2203	4300	6503	SO:0001583	missense			AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885	57560	57560		Intraflagellar transport homologs, WD repeat domain containing	29262	protein-coding gene	gene with protein product		611177	WD repeat domain 56, intraflagellar transport 80 homolog (Chlamydomonas)	WDR56	NA	10718198	Standard	NM_020800	NM_020800	NA	Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.758G>A	3.37:g.160073820C>T	ENSP00000312778:p.Arg253His	NA	B4E0K1|Q3MJC4|Q86YF4|Q9UIX1	37	CCDS3188.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650169	0.67472	0.0	5.81E-4	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589;ENST00000465537	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.37	5.37	0.77165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.210664	0.27384	U	0.019619	T	0.73289	0.3568	M	0.84846	2.72	0.80722	D	1	B	0.24368	0.102	B	0.23419	0.046	T	0.73889	-0.3840	10	0.66056	D	0.02	-15.0695	19.1062	0.93296	0.0:1.0:0.0:0.0	.	253	Q9P2H3	IFT80_HUMAN	H	253;116;116;116	ENSP00000312778:R253H;ENSP00000418196:R116H;ENSP00000420646:R116H;ENSP00000418602:R116H	ENSP00000312778:R253H	R	-	2	0	IFT80	161556514	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.737000	0.55060	2.520000	0.84964	0.655000	0.94253	CGC	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352651.2		-	ENST00000326448.7	Missense_Mutation	SNP	3 : 160073820 - 160073820 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	616	103
IKZF1	10320	broad.mit.edu	37	7	50459558	50459558	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50459558C>A	ENST00000331340.3	+	7	1002	c.847C>A	c.(847-849)Ctt>Att	p.L283I	IKZF1_ENST00000343574.5_Missense_Mutation_p.L196I|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000359197.5_Missense_Mutation_p.L241I|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000438033.1_Missense_Mutation_p.L196I|IKZF1_ENST00000439701.1_Missense_Mutation_p.L241I	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	283					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TCAGAAATTTCTTGGTAAGAG	0.408		NA	D,T	BCL6	ALL, DLBCL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec,Dom	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	131	Unknown(131)	haematopoietic_and_lymphoid_tissue(131)											46	45	45			NA	NA	7		NA											NA				50459558		1834	4093	5927	SO:0001583	missense			U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811	10320	10320		Zinc fingers, C2H2-type, IKAROS zinc fingers	13176	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 92	603023	zinc finger protein, subfamily 1A, 1 (Ikaros)	ZNFN1A1	NA	1439790, 7935426	Standard	NM_006060	NM_006060	NA	Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.847C>A	7.37:g.50459558C>A	ENSP00000331614:p.Leu283Ile	NA	A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q8WVA3	37		.	.	.	.	.	.	.	.	.	.	C	13.10	2.136583	0.37728	.	.	ENSG00000185811	ENST00000343574;ENST00000359197;ENST00000331340;ENST00000438033;ENST00000439701	T;T;T;T;T	0.06142	3.34;3.46;3.43;3.34;3.46	5.23	4.35	0.52113	.	0.060996	0.64402	D	0.000004	T	0.05044	0.0135	.	.	.	0.80722	D	1	B;B;B	0.22480	0.07;0.01;0.042	B;B;B	0.21360	0.034;0.03;0.015	T	0.38542	-0.9656	9	0.14252	T	0.57	-18.0347	13.6093	0.62068	0.0:0.2506:0.7494:0.0	.	196;241;283	Q13422-2;Q13422-7;Q13422	.;.;IKZF1_HUMAN	I	196;241;283;196;241	ENSP00000342750:L196I;ENSP00000352123:L241I;ENSP00000331614:L283I;ENSP00000396554:L196I;ENSP00000413025:L241I	ENSP00000331614:L283I	L	+	1	0	IKZF1	50427052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.621000	0.61233	1.192000	0.43071	0.563000	0.77884	CTT	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000342242.1		+	ENST00000331340.3	Missense_Mutation	SNP	7 : 50459558 - 50459558 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	101	18
OR2T12	127064	broad.mit.edu	37	1	248458261	248458261	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248458261A>G	ENST00000317996.1	-	1	619	c.620T>C	c.(619-621)gTc>gCc	p.V207A		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GGAAAAGGGGACCAGGAGCAT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	40	42			NA	NA	1		NA											NA				248458261		2202	4282	6484	SO:0001583	missense			BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201	127064	127064		GPCR / Class A : Olfactory receptors	19592	protein-coding gene	gene with protein product					NA		Standard	NM_001004692	NM_001004692	NA	Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.620T>C	1.37:g.248458261A>G	ENSP00000324583:p.Val207Ala	NA		37	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	a	9.021	0.984884	0.18889	.	.	ENSG00000177201	ENST00000317996	T	0.39229	1.09	1.55	0.167	0.15006	GPCR, rhodopsin-like superfamily (1);	1.119980	0.07080	U	0.836949	T	0.28267	0.0698	N	0.17723	0.515	0.09310	N	1	B	0.23806	0.091	B	0.30716	0.119	T	0.40156	-0.9578	10	0.62326	D	0.03	.	4.0928	0.09976	0.5564:0.283:0.1606:0.0	.	207	Q8NG77	O2T12_HUMAN	A	207	ENSP00000324583:V207A	ENSP00000324583:V207A	V	-	2	0	OR2T12	246524884	0.000000	0.05858	0.021000	0.16686	0.193000	0.23685	-0.036000	0.12185	0.540000	0.28808	0.147000	0.16070	GTC	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097353.1		-	ENST00000317996.1	Missense_Mutation	SNP	1 : 248458261 - 248458261 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	373	134
AHNAK2	113146	broad.mit.edu	37	14	105414796	105414796	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105414796G>T	ENST00000557457.1	-	1	24				AHNAK2_ENST00000333244.5_Missense_Mutation_p.S2331Y			Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	NA						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCAAGGGCAGACACCCCAAA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													191	213	206			NA	NA	14		NA											NA				105414796		2056	4200	6256	SO:0001627	intron_variant			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567	113146	113146			20125	protein-coding gene	gene with protein product		608570	chromosome 14 open reading frame 78	C14orf78	NA	15007166	Standard	NM_138420	NM_138420	NA	Approved		uc010axc.1	Q8IVF2		ENST00000557457.1:c.219+5421C>A	14.37:g.105414796G>T		NA	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	37		.	.	.	.	.	.	.	.	.	.	-	16.73	3.203847	0.58234	.	.	ENSG00000185567	ENST00000333244	T	0.00902	5.56	3.64	3.64	0.41730	.	.	.	.	.	T	0.07098	0.0180	M	0.91920	3.255	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.04946	-1.0916	9	0.66056	D	0.02	.	10.8683	0.46869	0.0:0.0:1.0:0.0	.	2331	Q8IVF2	AHNK2_HUMAN	Y	2331	ENSP00000353114:S2331Y	ENSP00000353114:S2331Y	S	-	2	0	AHNAK2	104485841	0.860000	0.29831	0.006000	0.13384	0.006000	0.05464	4.252000	0.58785	1.559000	0.49555	0.306000	0.20318	TCT	AHNAK2-003	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000410299.1		-	ENST00000557457.1	Intron	SNP	14 : 105414796 - 105414796 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1519	335
CELF6	60677	broad.mit.edu	37	15	72608191	72608191	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72608191G>A	ENST00000287202.5	-	2	594	c.340C>T	c.(340-342)Cca>Tca	p.P114S	CELF6_ENST00000567083.1_Missense_Mutation_p.P114S|CELF6_ENST00000539635.1_5'UTR|CELF6_ENST00000569547.1_Missense_Mutation_p.P114S|RP11-106M3.3_ENST00000570175.1_RNA|RP11-106M3.2_ENST00000379915.4_RNA	NM_052840.4	NP_443072.3	Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	114	RRM 1.				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						CTTACCCCTGGCAGGGTCTTC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	35	36			NA	NA	15		NA											NA				72608191		2199	4297	6496	SO:0001583	missense			AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488	60677	60677		RNA binding motif (RRM) containing	14059	protein-coding gene	gene with protein product		612681	Bruno (Drosophila) -like 6, RNA binding protein, bruno-like 6, RNA binding protein (Drosophila)	BRUNOL6	NA	10893231	Standard	NM_052840	NM_052840	NA	Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000287202.5:c.340C>T	15.37:g.72608191G>A	ENSP00000287202:p.Pro114Ser	NA	Q6PII4|Q6ZNJ7|Q8N607	37	CCDS10242.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744052	0.89663	.	.	ENSG00000140488	ENST00000287202;ENST00000437872	T	0.15718	2.4	5.95	5.95	0.96441	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.43919	U	0.000506	T	0.37461	0.1004	L	0.42245	1.32	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.968	T	0.01702	-1.1292	10	0.66056	D	0.02	-4.7191	18.957	0.92662	0.0:0.0:1.0:0.0	.	114;114	B4DJB6;Q96J87	.;CELF6_HUMAN	S	114	ENSP00000287202:P114S	ENSP00000287202:P114S	P	-	1	0	CELF6	70395245	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.367000	0.97148	2.824000	0.97209	0.655000	0.94253	CCA	CELF6-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257316.2		-	ENST00000287202.5	Missense_Mutation	SNP	15 : 72608191 - 72608191 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	70	17
MAGEA3	4102	broad.mit.edu	37	X	151935444	151935444	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151935444A>C	ENST00000393902.3	-	3	1290	c.723T>G	c.(721-723)gaT>gaG	p.D241E	MAGEA3_ENST00000370278.3_Missense_Mutation_p.D241E			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	241	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GCTTCTTGGGATCCCCCAAGA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	140	143			NA	NA	X		NA											NA				151935444		2202	4293	6495	SO:0001583	missense				CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867	4102	4102			6801	protein-coding gene	gene with protein product	melanoma-associated antigen 3, antigen MZ2-D, MAGE-3 antigen, cancer/testis antigen family 1, member 3	300174		MAGE3	NA	1840703, 8575766	Standard	NM_005362	NM_005362	NA	Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.723T>G	X.37:g.151935444A>C	ENSP00000377480:p.Asp241Glu	NA	Q6FHI6	37	CCDS14715.1	.	.	.	.	.	.	.	.	.	.	a	0.006	-2.022220	0.00414	.	.	ENSG00000221867	ENST00000370278;ENST00000393902	T;T	0.04551	3.6;3.6	1.42	-2.84	0.05751	.	0.209202	0.47852	N	0.000214	T	0.00784	0.0026	N	0.00329	-1.635	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34153	-0.9840	10	0.02654	T	1	.	2.0781	0.03628	0.41:0.2959:0.0:0.294	.	241	P43357	MAGA3_HUMAN	E	241	ENSP00000359301:D241E;ENSP00000377480:D241E	ENSP00000359301:D241E	D	-	3	2	MAGEA3	151686100	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.106000	0.03319	-0.868000	0.04058	-1.030000	0.02411	GAT	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058744.1		-	ENST00000393902.3	Missense_Mutation	SNP	X : 151935444 - 151935444 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	730	206
FCN1	2219	broad.mit.edu	37	9	137801699	137801699	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137801699G>A	ENST00000371806.3	-	9	1017	c.926C>T	c.(925-927)gCg>gTg	p.A309V		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	309	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GTACCCCTTCGCCGCACTCCA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	99	102			NA	NA	9		NA											NA				137801699		2203	4300	6503	SO:0001583	missense			D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265	2219	2219		Fibrinogen C domain containing	3623	protein-coding gene	gene with protein product		601252	ficolin (collagen/fibrinogen domain-containing) 1		NA	8573080, 8884275	Standard	NM_002003	NM_002003	NA	Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.926C>T	9.37:g.137801699G>A	ENSP00000360871:p.Ala309Val	NA	Q92596	37	CCDS6985.1	.	.	.	.	.	.	.	.	.	.	g	6.162	0.398001	0.11696	.	.	ENSG00000085265	ENST00000371806	T	0.76186	-1.0	3.2	1.31	0.21738	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	.	.	.	.	T	0.53029	0.1771	N	0.04880	-0.145	0.09310	N	1	B	0.28055	0.199	B	0.20577	0.03	T	0.40776	-0.9545	9	0.49607	T	0.09	.	13.1125	0.59281	0.0:0.8293:0.1707:0.0	.	309	O00602	FCN1_HUMAN	V	309	ENSP00000360871:A309V	ENSP00000360871:A309V	A	-	2	0	FCN1	136941520	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	1.833000	0.39161	0.187000	0.20147	-0.814000	0.03130	GCG	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054963.1		-	ENST00000371806.3	Missense_Mutation	SNP	9 : 137801699 - 137801699 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	513	106
LRRC4C	57689	broad.mit.edu	37	11	40136372	40136372	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:40136372T>G	ENST00000278198.2	-	2	3434	c.1471A>C	c.(1471-1473)Acc>Ccc	p.T491P	LRRC4C_ENST00000527150.1_Missense_Mutation_p.T491P|LRRC4C_ENST00000528697.1_Missense_Mutation_p.T491P|LRRC4C_ENST00000530763.1_Missense_Mutation_p.T491P			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	491					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTGAGAGAGGTGGTCACATTG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	116	125			NA	NA	11		NA											NA				40136372		2203	4300	6503	SO:0001583	missense			AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948	57689	57689		Immunoglobulin superfamily / I-set domain containing	29317	protein-coding gene	gene with protein product		608817			NA	14595443	Standard	NM_020929	NM_020929	NA	Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1471A>C	11.37:g.40136372T>G	ENSP00000278198:p.Thr491Pro	NA	A8K0T1|Q7L0N3	37	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	T	11.23	1.576934	0.28092	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.84	5.84	0.93424	.	0.048768	0.85682	D	0.000000	T	0.37571	0.1008	L	0.41710	1.295	0.58432	D	0.999996	B	0.18968	0.032	B	0.21151	0.033	T	0.10730	-1.0617	10	0.39692	T	0.17	.	15.4114	0.74923	0.0:0.0:0.0:1.0	.	491	Q9HCJ2	LRC4C_HUMAN	P	491	ENSP00000278198:T491P;ENSP00000436976:T491P;ENSP00000437132:T491P;ENSP00000434761:T491P	ENSP00000278198:T491P	T	-	1	0	LRRC4C	40092948	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.139000	0.71728	2.228000	0.72767	0.533000	0.62120	ACC	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389499.1		-	ENST00000278198.2	Missense_Mutation	SNP	11 : 40136372 - 40136372 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	39
RELN	5649	broad.mit.edu	37	7	103175782	103175782	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103175782G>A	ENST00000428762.1	-	46	7489	c.7330C>T	c.(7330-7332)Cct>Tct	p.P2444S	RELN_ENST00000424685.2_Missense_Mutation_p.P2444S|RELN_ENST00000343529.5_Missense_Mutation_p.P2444S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2444					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)		GGAGGGAGAGGCAGAGTGATT	0.453		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													159	121	134			NA	NA	7		NA											NA				103175782		2203	4300	6503	SO:0001583	missense				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.7330C>T	7.37:g.103175782G>A	ENSP00000392423:p.Pro2444Ser	NA	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843027	0.91197	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.56776	0.44;0.44;0.44	5.57	5.57	0.84162	Neuraminidase (1);	0.105231	0.64402	D	0.000002	T	0.72875	0.3515	M	0.73962	2.25	0.80722	D	1	D;P	0.67145	0.996;0.519	D;B	0.64410	0.925;0.09	T	0.74788	-0.3546	10	0.72032	D	0.01	.	19.9029	0.96995	0.0:0.0:1.0:0.0	.	2444;2444	P78509-2;P78509	.;RELN_HUMAN	S	2444	ENSP00000392423:P2444S;ENSP00000345694:P2444S;ENSP00000388446:P2444S	ENSP00000345694:P2444S	P	-	1	0	RELN	102963018	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.484000	0.81180	2.780000	0.95670	0.655000	0.94253	CCT	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348148.1		-	ENST00000428762.1	Missense_Mutation	SNP	7 : 103175782 - 103175782 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	215	34
NISCH	11188	broad.mit.edu	37	3	52521950	52521950	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52521950G>A	ENST00000479054.1	+	17	2514	c.2442G>A	c.(2440-2442)caG>caA	p.Q814Q	NISCH_ENST00000345716.4_Silent_p.Q814Q			Q9Y2I1	NISCH_HUMAN	nischarin	814	Interaction with LIMK (By similarity).|Interaction with PAK1 (By similarity).				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		TTGCACCCCAGCACATGGCCA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	37	39			NA	NA	3		NA											NA				52521950		2203	4300	6503	SO:0001819	synonymous_variant			AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322	11188	11188			18006	protein-coding gene	gene with protein product	imidazoline receptor candidate, I-1 receptor candidate protein, imidazoline receptor antisera selected	615507			NA	11912194, 10882231	Standard	NM_007184	NM_007184	NA	Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.2442G>A	3.37:g.52521950G>A		NA	C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	37	CCDS33767.1																																																																																			NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351357.1		+	ENST00000479054.1	Silent	SNP	3 : 52521950 - 52521950 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	221	52
BEST4	266675	broad.mit.edu	37	1	45253349	45253349	+	Missense_Mutation	SNP	G	G	A	rs16832247		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45253349G>A	ENST00000372207.3	-	1	28	c.29C>T	c.(28-30)gCg>gTg	p.A10V		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	10						chloride channel complex|plasma membrane	chloride channel activity			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					GCGGGCCTCCGCCACTTTGAG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	63	59			NA	NA	1		NA											NA				45253349		2203	4300	6503	SO:0001583	missense			AF440757	CCDS514.1	1p33-p32.3	2012-09-26	2006-10-18	2006-10-18	ENSG00000142959	ENSG00000142959	266675	266675		Ion channels / Chloride channels : Calcium activated : Bestrophins	17106	protein-coding gene	gene with protein product		607336	vitelliform macular dystrophy 2-like 2	VMD2L2	NA	12032738, 16702355	Standard	NM_153274	NM_153274	NA	Approved		uc001cmm.3	Q8NFU0	OTTHUMG00000008488	ENST00000372207.3:c.29C>T	1.37:g.45253349G>A	ENSP00000361281:p.Ala10Val	NA	Q5JR93	37	CCDS514.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980682	0.74474	.	.	ENSG00000142959	ENST00000372207	D	0.98732	-5.1	4.68	2.79	0.32731	.	0.187640	0.45126	N	0.000399	D	0.99158	0.9709	H	0.94925	3.6	0.58432	D	0.999991	D	0.89917	1.0	D	0.85130	0.997	D	0.98974	1.0802	10	0.87932	D	0	-3.1961	7.1703	0.25715	0.0913:0.0:0.7384:0.1704	rs16832247;rs16832247	10	Q8NFU0	BEST4_HUMAN	V	10	ENSP00000361281:A10V	ENSP00000361281:A10V	A	-	2	0	BEST4	45025936	1.000000	0.71417	0.448000	0.26945	0.612000	0.37316	7.800000	0.85949	0.570000	0.29347	0.655000	0.94253	GCG	BEST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000023425.1		-	ENST00000372207.3	Missense_Mutation	SNP	1 : 45253349 - 45253349 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	590	49
NOS1	4842	broad.mit.edu	37	12	117693744	117693744	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117693744T>C	ENST00000338101.4	-	16	2634	c.2630A>G	c.(2629-2631)cAc>cGc	p.H877R	NOS1_ENST00000344089.3_Intron|NOS1_ENST00000317775.6_Intron			P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	844	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ACTCTACCTGTGCTGGCTGTC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(162;1748 2599 51982 52956)							NA				0													113	102	105			NA	NA	12		NA											NA				117693744		876	1991	2867	SO:0001583	missense				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	4842	4842	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS	NA	1385308, 7682706	Standard		NM_001204213	NA	Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.2630A>G	12.37:g.117693744T>C	ENSP00000337459:p.His877Arg	NA		37	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	T	12.69	2.013078	0.35511	.	.	ENSG00000089250	ENST00000338101;ENST00000544320	T	0.58210	0.35	5.93	-0.753	0.11068	.	.	.	.	.	T	0.35219	0.0924	N	0.19112	0.55	0.80722	D	1	.	.	.	.	.	.	T	0.06445	-1.0826	7	0.15066	T	0.55	.	9.1619	0.37028	0.0:0.429:0.0:0.571	.	.	.	.	R	877;43	ENSP00000337459:H877R	ENSP00000337459:H877R	H	-	2	0	NOS1	116178127	0.966000	0.33281	0.995000	0.50966	0.993000	0.82548	-0.321000	0.08018	-0.116000	0.11893	-0.290000	0.09829	CAC	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268053.1		-	ENST00000338101.4	Missense_Mutation	SNP	12 : 117693744 - 117693744 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	411	69
CRYGD	1421	broad.mit.edu	37	2	208986578	208986578	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:208986578C>T	ENST00000264376.4	-	3	371	c.344G>A	c.(343-345)cGc>cAc	p.R115H		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	115	Beta/gamma crystallin 'Greek key' 3.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GAAGCGGAAGCGGTCCTGAAG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	117	119			NA	NA	2		NA											NA				208986578		2203	4300	6503	SO:0001583	missense				CCDS2378.1	2q33.3	2013-02-14			ENSG00000118231	ENSG00000118231	1421	1421			2411	protein-coding gene	gene with protein product		123690		CRYG4	NA		Standard	NM_006891	NM_006891	NA	Approved		uc002vcn.4	P07320	OTTHUMG00000132944	ENST00000264376.4:c.344G>A	2.37:g.208986578C>T	ENSP00000264376:p.Arg115His	NA	Q17RF7|Q53R51|Q99681	37	CCDS2378.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528104	0.44969	.	.	ENSG00000118231	ENST00000264376	T	0.75704	-0.96	4.25	3.34	0.38264	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.065041	0.64402	D	0.000007	T	0.70029	0.3177	M	0.78223	2.4	0.40858	D	0.983814	B	0.16396	0.017	B	0.17433	0.018	T	0.66221	-0.5978	10	0.40728	T	0.16	.	5.9174	0.19063	0.0:0.7564:0.0:0.2436	.	115	P07320	CRGD_HUMAN	H	115	ENSP00000264376:R115H	ENSP00000264376:R115H	R	-	2	0	CRYGD	208694823	0.093000	0.21703	1.000000	0.80357	0.990000	0.78478	0.550000	0.23345	0.947000	0.37659	0.555000	0.69702	CGC	CRYGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256476.2		-	ENST00000264376.4	Missense_Mutation	SNP	2 : 208986578 - 208986578 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	677	118
PTPRM	5797	broad.mit.edu	37	18	8380330	8380330	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8380330C>T	ENST00000332175.8	+	27	4821	c.3784C>T	c.(3784-3786)Cat>Tat	p.H1262Y	PTPRM_ENST00000444013.1_Missense_Mutation_p.H1049Y|PTPRM_ENST00000400053.4_Missense_Mutation_p.H1200Y|PTPRM_ENST00000580170.1_Missense_Mutation_p.H1275Y|PTPRM_ENST00000400060.4_Missense_Mutation_p.H1276Y	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1262	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AGTCACCCAGCATCCTTTGCC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	90	93			NA	NA	18		NA											NA				8380330		2203	4300	6503	SO:0001583	missense			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482	5797	5797		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	9675	protein-coding gene	gene with protein product		176888		PTPRL1	NA	1655529, 8404049	Standard		NM_002845	NA	Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.3784C>T	18.37:g.8380330C>T	ENSP00000331418:p.His1262Tyr	NA	D3DUH8	37	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391628	0.83011	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.13538	2.58;2.58;2.58;2.58	5.66	5.66	0.87406	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	M	0.76002	2.32	0.80722	D	1	B;D;D	0.62365	0.12;0.991;0.969	B;D;D	0.76575	0.291;0.988;0.968	T	0.04708	-1.0932	10	0.42905	T	0.14	.	19.7344	0.96195	0.0:1.0:0.0:0.0	.	1049;1275;1262	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	Y	1262;1276;1200;1049	ENSP00000331418:H1262Y;ENSP00000382933:H1276Y;ENSP00000382927:H1200Y;ENSP00000387608:H1049Y	ENSP00000331418:H1262Y	H	+	1	0	PTPRM	8370330	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.673000	0.90976	0.591000	0.81541	CAT	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254456.1		+	ENST00000332175.8	Missense_Mutation	SNP	18 : 8380330 - 8380330 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	373	56
PLXDC2	84898	broad.mit.edu	37	10	20290821	20290821	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:20290821C>T	ENST00000377252.4	+	2	1071	c.230C>T	c.(229-231)aCg>aTg	p.T77M	PLXDC2_ENST00000377242.3_Missense_Mutation_p.T77M	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	NA						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						GCGGTAGACACGAACCGAGCA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	75	81			NA	NA	10		NA											NA				20290821		2203	4300	6503	SO:0001583	missense			AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594	84898	84898			21013	protein-coding gene	gene with protein product	tumor endothelial marker 7-related precursor	606827			NA	11559528	Standard	NM_032812	NM_001282736	NA	Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.230C>T	10.37:g.20290821C>T	ENSP00000366460:p.Thr77Met	NA	Q96E59|Q96PD9|Q96SU9	37	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249061	0.59103	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000536022	T;T	0.31769	1.79;1.48	5.9	5.9	0.94986	.	0.193759	0.56097	D	0.000039	T	0.42607	0.1210	L	0.44542	1.39	0.80722	D	1	D;D	0.69078	0.997;0.984	P;P	0.53490	0.727;0.538	T	0.20174	-1.0283	10	0.87932	D	0	.	18.4573	0.90725	0.0:1.0:0.0:0.0	.	77;77	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	M	77;77;63	ENSP00000366460:T77M;ENSP00000366450:T77M	ENSP00000366450:T77M	T	+	2	0	PLXDC2	20330827	0.992000	0.36948	0.751000	0.31187	0.018000	0.09664	3.495000	0.53280	2.808000	0.96608	0.650000	0.86243	ACG	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047101.2		+	ENST00000377252.4	Missense_Mutation	SNP	10 : 20290821 - 20290821 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	208	43
TCHH	7062	broad.mit.edu	37	1	152082432	152082432	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152082432C>T	ENST00000368804.1	-	2	3260	c.3261G>A	c.(3259-3261)caG>caA	p.Q1087Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1087	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			cttcctcctgctgcagctcct	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	99	98			NA	NA	1		NA											NA				152082432		1983	4154	6137	SO:0001819	synonymous_variant			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450	7062	7062		EF-hand domain containing	11791	protein-coding gene	gene with protein product		190370		THH	NA	1431214	Standard	NM_007113	NM_007113	NA	Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3261G>A	1.37:g.152082432C>T		NA	Q5VUI3	37	CCDS41396.1																																																																																			TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000036671.2		-	ENST00000368804.1	Silent	SNP	1 : 152082432 - 152082432 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1441	190
ZNF775	285971	broad.mit.edu	37	7	150094568	150094568	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150094568C>T	ENST00000329630.5	+	3	1106	c.999C>T	c.(997-999)ggC>ggT	p.G333G		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCACACAGGCGAGCGCCCGC	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													9	11	10			NA	NA	7		NA											NA				150094568		2127	4227	6354	SO:0001819	synonymous_variant			BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456	285971	285971		Zinc fingers, C2H2-type	28501	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_173680	NM_173680	NA	Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.999C>T	7.37:g.150094568C>T		NA	Q8IY24	37	CCDS43678.1																																																																																			ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350679.1		+	ENST00000329630.5	Silent	SNP	7 : 150094568 - 150094568 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	130	16
SIPA1L3	23094	broad.mit.edu	37	19	38610136	38610136	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38610136C>A	ENST00000222345.6	+	9	2991	c.2482C>A	c.(2482-2484)Ctg>Atg	p.L828M		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	828	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCTCAAGGACCTGGCCGAAAA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	77	81			NA	NA	19		NA											NA				38610136		2203	4300	6503	SO:0001583	missense			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738	23094	23094			23801	protein-coding gene	gene with protein product					NA		Standard	XM_032278	XM_005258671	NA	Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2482C>A	19.37:g.38610136C>A	ENSP00000222345:p.Leu828Met	NA	Q2TV87	37	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951204	0.73787	.	.	ENSG00000105738	ENST00000222345	D	0.95949	-3.86	5.75	4.72	0.59763	Rap/ran-GAP (2);	0.000000	0.64402	D	0.000001	D	0.96861	0.8975	M	0.72353	2.195	0.47341	D	0.999397	D	0.56746	0.977	D	0.70935	0.971	D	0.96927	0.9678	10	0.87932	D	0	-22.4447	10.6047	0.45388	0.0:0.8459:0.0:0.1541	.	828	O60292	SI1L3_HUMAN	M	828	ENSP00000222345:L828M	ENSP00000222345:L828M	L	+	1	2	SIPA1L3	43301976	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.356000	0.34079	1.451000	0.47736	-0.136000	0.14681	CTG	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000156294.2		+	ENST00000222345.6	Missense_Mutation	SNP	19 : 38610136 - 38610136 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	353	84
ATP2C2	9914	broad.mit.edu	37	16	84459343	84459343	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84459343C>T	ENST00000416219.2	+	11	1011	c.922C>T	c.(922-924)Ctc>Ttc	p.L308F	ATP2C2_ENST00000262429.4_Missense_Mutation_p.L308F|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	308					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TTCCCCAGGTCTCATCATGCT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													260	254	256			NA	NA	16		NA											NA				84459343		2011	4184	6195	SO:0001583	missense			AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	9914	9914	3.6.3.8	ATPases / P-type	29103	protein-coding gene	gene with protein product	secretory pathway calcium ATPase 2	613082			NA	9734811	Standard	NM_014861	XM_006721355	NA	Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000416219.2:c.922C>T	16.37:g.84459343C>T	ENSP00000397925:p.Leu308Phe	NA	B4DU76|Q5S053|Q68CQ2	37		.	.	.	.	.	.	.	.	.	.	C	8.804	0.933585	0.18206	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	D;D	0.90324	-2.65;-2.65	5.0	-2.62	0.06152	ATPase, P-type, ATPase-associated domain (1);	1.503780	0.03710	N	0.250100	D	0.85283	0.5661	L	0.28115	0.83	0.38978	D	0.958882	B;B;B;B	0.21753	0.027;0.018;0.022;0.06	B;B;B;B	0.33750	0.12;0.043;0.073;0.169	T	0.70132	-0.4956	10	0.56958	D	0.05	.	5.7035	0.17895	0.0:0.1713:0.4723:0.3564	.	308;157;325;308	E7ES94;F8WAA5;O75185-2;O75185	.;.;.;AT2C2_HUMAN	F	308;308;157	ENSP00000397925:L308F;ENSP00000262429:L308F	ENSP00000262429:L308F	L	+	1	0	ATP2C2	83016844	0.985000	0.35326	0.274000	0.24659	0.152000	0.21847	0.236000	0.17967	-0.250000	0.09555	-0.176000	0.13171	CTC	ATP2C2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000433405.1		+	ENST00000416219.2	Missense_Mutation	SNP	16 : 84459343 - 84459343 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1304	279
PNISR	25957	broad.mit.edu	37	6	99853919	99853919	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99853919T>G	ENST00000369239.5	-	8	1194	c.990A>C	c.(988-990)aaA>aaC	p.K330N	PNISR_ENST00000438806.1_Missense_Mutation_p.K330N	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	330						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						TTTGATACTCTTTCTCCTCTT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													203	181	188			NA	NA	6		NA											NA				99853919		2203	4300	6503	SO:0001583	missense			AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424	25957	25957			21222	protein-coding gene	gene with protein product			chromosome 6 open reading frame 111, splicing factor, arginine/serine-rich 18	C6orf111, SFRS18	NA	14578391	Standard	NM_032870	NM_032870	NA	Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.990A>C	6.37:g.99853919T>G	ENSP00000358242:p.Lys330Asn	NA	A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	37	CCDS5043.1	.	.	.	.	.	.	.	.	.	.	T	17.79	3.475283	0.63737	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	T;T	0.50548	0.74;0.74	5.68	0.679	0.17975	.	0.091899	0.64402	D	0.000001	T	0.23926	0.0579	L	0.50333	1.59	0.52099	D	0.999942	P	0.48503	0.911	B	0.42087	0.375	T	0.03268	-1.1054	10	0.44086	T	0.13	.	8.7921	0.34857	0.0:0.5522:0.0:0.4478	.	330	Q8TF01	PNISR_HUMAN	N	330	ENSP00000358242:K330N;ENSP00000387997:K330N	ENSP00000358242:K330N	K	-	3	2	PNISR	99960640	0.986000	0.35501	1.000000	0.80357	0.866000	0.49608	0.083000	0.14871	0.167000	0.19631	-0.290000	0.09829	AAA	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041598.1		-	ENST00000369239.5	Missense_Mutation	SNP	6 : 99853919 - 99853919 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	53
TNR	7143	broad.mit.edu	37	1	175299240	175299240	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175299240G>T	ENST00000367674.2	-	21	4471	c.3763C>A	c.(3763-3765)Ctc>Atc	p.L1255I	TNR_ENST00000263525.2_Missense_Mutation_p.L1255I|RP3-518E13.2_ENST00000569593.1_RNA			Q92752	TENR_HUMAN	tenascin R	NA	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCTATGCGGAGTTTGTACAGG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	77	83			NA	NA	1		NA											NA				175299240		2203	4300	6503	SO:0001583	missense			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147	7143	7143		Fibrinogen C domain containing, Fibronectin type III domain containing	11953	protein-coding gene	gene with protein product	restrictin, janusin	601995			NA	8626505, 8940128	Standard	NM_003285	NM_003285	NA	Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3763C>A	1.37:g.175299240G>T	ENSP00000356646:p.Leu1255Ile	NA	C9J563|Q15568|Q5R3G0	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428684	0.43122	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	D;D	0.82619	-1.63;-1.63	5.64	4.72	0.59763	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.070418	0.64402	N	0.000017	D	0.85805	0.5782	M	0.82517	2.595	0.54753	D	0.999987	B	0.11235	0.004	B	0.28232	0.087	D	0.83952	0.0317	10	0.62326	D	0.03	.	15.8324	0.78764	0.0:0.0:0.8634:0.1366	.	1255	Q92752	TENR_HUMAN	I	1255;1255;1165	ENSP00000356646:L1255I;ENSP00000263525:L1255I	ENSP00000263525:L1255I	L	-	1	0	TNR	173565863	1.000000	0.71417	1.000000	0.80357	0.062000	0.15995	5.105000	0.64591	1.354000	0.45846	0.655000	0.94253	CTC	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084414.4		-	ENST00000367674.2	Missense_Mutation	SNP	1 : 175299240 - 175299240 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	406	108
PARVG	64098	broad.mit.edu	37	22	44602221	44602221	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44602221G>T	ENST00000444313.3	+	14	1395	c.911G>T	c.(910-912)aGc>aTc	p.S304I	PARVG_ENST00000415224.1_Missense_Mutation_p.S304I|PARVG_ENST00000422871.1_Missense_Mutation_p.S304I	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	NA	CH 2.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				GATGCCAAGAGCACACTGAGG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	79	81			NA	NA	22		NA											NA				44602221		2203	4300	6503	SO:0001583	missense			AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964	64098	64098		Parvins	14654	protein-coding gene	gene with protein product		608122			NA	11171322	Standard	NM_022141	NM_022141	NA	Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.911G>T	22.37:g.44602221G>T	ENSP00000391583:p.Ser304Ile	NA	Q9BQX5|Q9NSG1	37	CCDS14057.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090273	0.36855	.	.	ENSG00000138964	ENST00000422871;ENST00000444313;ENST00000415224	T;T;T	0.64618	-0.11;-0.11;-0.11	4.0	1.33	0.21861	Calponin homology domain (5);	0.428844	0.24779	N	0.035679	T	0.71500	0.3347	L	0.58810	1.83	0.43777	D	0.996304	D	0.89917	1.0	D	0.85130	0.997	T	0.69323	-0.5175	10	0.39692	T	0.17	-4.3916	11.0206	0.47715	0.0:0.5995:0.4005:0.0	.	304	Q9HBI0	PARVG_HUMAN	I	304	ENSP00000391453:S304I;ENSP00000391583:S304I;ENSP00000416761:S304I	ENSP00000416761:S304I	S	+	2	0	PARVG	42933554	1.000000	0.71417	0.992000	0.48379	0.091000	0.18340	3.476000	0.53143	0.731000	0.32448	0.491000	0.48974	AGC	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318238.4		+	ENST00000444313.3	Missense_Mutation	SNP	22 : 44602221 - 44602221 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	362	56
DOCK5	80005	broad.mit.edu	37	8	25183050	25183050	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25183050G>A	ENST00000276440.7	+	18	1934	c.1890G>A	c.(1888-1890)aaG>aaA	p.K630K		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	630	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GCTCCACAAAGCTCACCCAGA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(145;34 1887 3271 10937 30165)							NA				0													108	95	99			NA	NA	8		NA											NA				25183050		2203	4300	6503	SO:0001819	synonymous_variant				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459	80005	80005			23476	protein-coding gene	gene with protein product					NA	12432077	Standard	NM_024940	NM_024940	NA	Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.1890G>A	8.37:g.25183050G>A		NA	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	37	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	G	9.262	1.043369	0.19748	.	.	ENSG00000147459	ENST00000444569	.	.	.	5.8	2.62	0.31277	.	.	.	.	.	T	0.61899	0.2384	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59123	-0.7513	4	.	.	.	.	11.7724	0.51967	0.2787:0.0:0.7213:0.0	.	.	.	.	T	402	.	.	A	+	1	0	DOCK5	25238967	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	0.541000	0.23207	0.803000	0.34113	0.655000	0.94253	GCT	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254955.2		+	ENST00000276440.7	Silent	SNP	8 : 25183050 - 25183050 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	367	64
C16orf78	123970	broad.mit.edu	37	16	49407930	49407930	+	Missense_Mutation	SNP	G	G	A	rs144505396	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:49407930G>A	ENST00000299191.3	+	1	197	c.80G>A	c.(79-81)cGc>cAc	p.R27H		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	27										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GAAGATAGGCGCATGTCTGAC	0.512		NA											G	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0								G	HIS/ARG	5,4393	9.9+/-24.2	0,5,2194	141	124	130		80	1.6	0.3	16	dbSNP_134	130	0,8600		0,0,4300	yes	missense	C16orf78	NM_144602.2	29	0,5,6494	AA,AG,GG	NA	0.0,0.1137,0.0385	possibly-damaging	27/266	49407930	5,12993	2199	4300	6499	SO:0001583	missense			BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152	123970	123970			28479	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_144602	NM_144602	NA	Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.80G>A	16.37:g.49407930G>A	ENSP00000299191:p.Arg27His	NA		37	CCDS10738.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	10.93	1.489016	0.26686	0.001137	0.0	ENSG00000166152	ENST00000299191	T	0.60672	0.17	3.59	1.62	0.23740	.	0.000000	0.39083	N	0.001480	T	0.53658	0.1810	L	0.32530	0.975	0.18873	N	0.999984	D	0.76494	0.999	P	0.56343	0.796	T	0.43589	-0.9382	10	0.72032	D	0.01	-28.566	6.1855	0.20495	0.2354:0.0:0.7646:0.0	.	27	Q8WTQ4	CP078_HUMAN	H	27	ENSP00000299191:R27H	ENSP00000299191:R27H	R	+	2	0	C16orf78	47965431	0.252000	0.23972	0.275000	0.24674	0.014000	0.08584	0.619000	0.24388	0.511000	0.28236	-0.254000	0.11334	CGC	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256846.1		+	ENST00000299191.3	Missense_Mutation	SNP	16 : 49407930 - 49407930 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	642	92
OR52D1	390066	broad.mit.edu	37	11	5510879	5510879	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5510879A>G	ENST00000322641.5	+	1	965	c.943A>G	c.(943-945)Aag>Gag	p.K315E	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCACCTGGGGAAGACTTCAAT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	58	58			NA	NA	11		NA											NA				5510879		2201	4297	6498	SO:0001583	missense			BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609	390066	390066		GPCR / Class A : Olfactory receptors	15212	protein-coding gene	gene with protein product					NA		Standard	NM_001005163	NM_001005163	NA	Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.943A>G	11.37:g.5510879A>G	ENSP00000326232:p.Lys315Glu	NA	B9EGY9|Q6IFI6	37	CCDS31384.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.887179	0.33348	.	.	ENSG00000181609	ENST00000322641	T	0.40225	1.04	4.91	2.5	0.30297	.	0.193296	0.36234	N	0.002711	T	0.26521	0.0648	L	0.36672	1.1	0.09310	N	1	B	0.32573	0.376	B	0.27380	0.079	T	0.18871	-1.0323	10	0.62326	D	0.03	.	4.5443	0.12073	0.7392:0.0:0.0921:0.1687	.	315	Q9H346	O52D1_HUMAN	E	315	ENSP00000326232:K315E	ENSP00000326232:K315E	K	+	1	0	OR52D1	5467455	0.009000	0.17119	0.001000	0.08648	0.073000	0.16967	1.179000	0.31993	0.414000	0.25790	0.533000	0.62120	AAG	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000143372.1		+	ENST00000322641.5	Missense_Mutation	SNP	11 : 5510879 - 5510879 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	414	96
JAKMIP1	152789	broad.mit.edu	37	4	6080706	6080706	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6080706C>T	ENST00000409021.3	-	8	1711	c.1262G>A	c.(1261-1263)cGc>cAc	p.R421H	JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R421H|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R421H|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.R256H|JAKMIP1_ENST00000409371.3_Intron	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	421	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTTTTGGAGCGCAACAGCCG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	87	94			NA	NA	4		NA											NA				6080706		2203	4300	6503	SO:0001583	missense			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969	152789	152789			26460	protein-coding gene	gene with protein product		611195			NA	18941173	Standard	NM_144720	NM_144720	NA	Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000409021.3:c.1262G>A	4.37:g.6080706C>T	ENSP00000386711:p.Arg421His	NA	A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	37	CCDS47005.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087251	0.55968	.	.	ENSG00000152969	ENST00000409021;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	T;T;T;T	0.35048	1.74;1.75;1.75;1.33	5.24	5.24	0.73138	.	0.080268	0.53938	N	0.000057	T	0.49253	0.1546	M	0.73962	2.25	0.43462	D	0.995669	D;B;D;B	0.71674	0.998;0.01;0.994;0.01	P;B;P;B	0.48488	0.579;0.003;0.579;0.003	T	0.55444	-0.8140	10	0.52906	T	0.07	.	17.8446	0.88725	0.0:1.0:0.0:0.0	.	256;421;421;421	B4DHZ8;F2Z2K5;Q96N16-2;Q96N16	.;.;.;JKIP1_HUMAN	H	421;421;313;421;421;256	ENSP00000386711:R421H;ENSP00000282924:R421H;ENSP00000386925:R421H;ENSP00000386745:R256H	ENSP00000282924:R421H	R	-	2	0	JAKMIP1	6131607	0.972000	0.33761	0.993000	0.49108	0.960000	0.62799	2.320000	0.43797	2.445000	0.82738	0.655000	0.94253	CGC	JAKMIP1-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329747.1		-	ENST00000409021.3	Missense_Mutation	SNP	4 : 6080706 - 6080706 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	290	59
CXorf21	80231	broad.mit.edu	37	X	30577645	30577645	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:30577645C>T	ENST00000378962.3	-	3	1150	c.828G>A	c.(826-828)ttG>ttA	p.L276L		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	276										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						ACATCAATTGCAATAGGCGGC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	68	71			NA	NA	X		NA											NA				30577645		2202	4300	6502	SO:0001819	synonymous_variant			BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280	80231	80231			25667	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_025159	NM_025159	NA	Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.828G>A	X.37:g.30577645C>T		NA		37	CCDS14224.1																																																																																			CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056164.1		-	ENST00000378962.3	Silent	SNP	X : 30577645 - 30577645 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	307	72
OPRL1	4987	broad.mit.edu	37	20	62729775	62729775	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62729775C>T	ENST00000349451.3	+	6	1148	c.736C>T	c.(736-738)Cgc>Tgc	p.R246C	OPRL1_ENST00000355631.4_Missense_Mutation_p.R246C|OPRL1_ENST00000336866.2_Missense_Mutation_p.R246C	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	246					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					CCGTGGAGTCCGCCTGCTCTC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	137	144			NA	NA	20		NA											NA				62729775		2202	4300	6502	SO:0001583	missense				CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510	4987	4987		GPCR / Class A : Opioid receptors	8155	protein-coding gene	gene with protein product	LC132 receptor-like, orphanin FQ receptor, kappa3-related opioid receptor	602548			NA	8137918	Standard	NM_182647	NM_000913	NA	Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.736C>T	20.37:g.62729775C>T	ENSP00000336764:p.Arg246Cys	NA	Q8TD34|Q8WYH9|Q9H4K4	37	CCDS13556.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337157	0.60963	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.40225	1.04;1.04;1.04	4.63	4.63	0.57726	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72145	0.3424	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.79931	-0.1595	10	0.59425	D	0.04	.	17.5018	0.87734	0.0:1.0:0.0:0.0	.	241;246	P41146-2;P41146	.;OPRX_HUMAN	C	246	ENSP00000336843:R246C;ENSP00000347848:R246C;ENSP00000336764:R246C	ENSP00000336843:R246C	R	+	1	0	OPRL1	62200219	1.000000	0.71417	0.701000	0.30321	0.048000	0.14542	5.782000	0.68973	2.127000	0.65507	0.500000	0.49745	CGC	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080295.1		+	ENST00000349451.3	Missense_Mutation	SNP	20 : 62729775 - 62729775 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	795	146
JAG2	3714	broad.mit.edu	37	14	105621927	105621927	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105621927C>T	ENST00000331782.3	-	5	1163	c.760G>A	c.(760-762)Ggg>Agg	p.G254R	JAG2_ENST00000347004.2_Missense_Mutation_p.G254R|RP11-44N21.4_ENST00000548203.1_RNA	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	254	EGF-like 1.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GTGCATCCCCCGTGGAGCAAA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	100	100			NA	NA	14		NA											NA				105621927		2203	4300	6503	SO:0001583	missense			AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916	3714	3714			6189	protein-coding gene	gene with protein product		602570			NA	9315665, 10662552	Standard		NM_002226	NA	Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.760G>A	14.37:g.105621927C>T	ENSP00000328169:p.Gly254Arg	NA	Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	37	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694988	0.68386	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	T;T	0.48836	0.8;0.8	3.76	3.76	0.43208	Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	T	0.76300	0.3968	H	0.94964	3.605	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84545	0.0641	10	0.87932	D	0	.	14.9103	0.70752	0.0:1.0:0.0:0.0	.	254;254	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	R	254	ENSP00000328169:G254R;ENSP00000328566:G254R	ENSP00000328169:G254R	G	-	1	0	JAG2	104692972	1.000000	0.71417	1.000000	0.80357	0.319000	0.28217	7.059000	0.76684	1.796000	0.52611	0.563000	0.77884	GGG	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276506.2		-	ENST00000331782.3	Missense_Mutation	SNP	14 : 105621927 - 105621927 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	757	128
ZBTB20	26137	broad.mit.edu	37	3	114069836	114069836	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114069836G>A	ENST00000462705.1	-	11	1691	c.870C>T	c.(868-870)gcC>gcT	p.A290A	ZBTB20_ENST00000357258.3_Silent_p.A290A|ZBTB20_ENST00000474710.1_Silent_p.A363A|ZBTB20_ENST00000471418.1_Silent_p.A290A|ZBTB20_ENST00000464560.1_Silent_p.A290A|ZBTB20_ENST00000393785.2_Silent_p.A290A|ZBTB20_ENST00000481632.1_Silent_p.A290A	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CGGTGCCCTCGGCCTGGTCTG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(69;748 1344 9802 11203 30933)							NA				0													96	66	76			NA	NA	3		NA											NA				114069836		2203	4300	6503	SO:0001819	synonymous_variant			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722	26137	26137		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	13503	protein-coding gene	gene with protein product		606025	zinc finger protein 288	ZNF288	NA	10965110, 11352661	Standard	NM_015642	XM_005247339	NA	Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000462705.1:c.870C>T	3.37:g.114069836G>A		NA	Q63HP6|Q8N6R5|Q9Y410	37	CCDS2981.1																																																																																			ZBTB20-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354954.1		-	ENST00000462705.1	Silent	SNP	3 : 114069836 - 114069836 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	388	84
DENND5A	23258	broad.mit.edu	37	11	9166622	9166622	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9166622G>T	ENST00000530044.1	-	18	3059	c.3042C>A	c.(3040-3042)ggC>ggA	p.G1014G	DENND5A_ENST00000527700.1_Silent_p.G357G|DENND5A_ENST00000328194.3_Silent_p.G1014G			Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1014	PLAT.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGTTATCATGGCCAATCTGGA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	131	139			NA	NA	11		NA											NA				9166622		2201	4296	6497	SO:0001819	synonymous_variant			AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014	23258	23258		DENN/MADD domain containing	19344	protein-coding gene	gene with protein product			RAB6 interacting protein 1	RAB6IP1	NA	10470851	Standard	NM_015213	NM_015213	NA	Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000530044.1:c.3042C>A	11.37:g.9166622G>T		NA	Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	37	CCDS58119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.933|9.933	1.215366|1.215366	0.22373|0.22373	.|.	.|.	ENSG00000184014|ENSG00000184014	ENST00000525784|ENST00000524446	.|.	.|.	.|.	5.65|5.65	4.69|4.69	0.59074|0.59074	.|.	.|.	.|.	.|.	.|.	T|T	0.58452|0.58452	0.2123|0.2123	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.54873|0.54873	-0.8228|-0.8228	4|4	.|.	.|.	.|.	-13.9587|-13.9587	8.5325|8.5325	0.33344|0.33344	0.0:0.1334:0.6002:0.2664|0.0:0.1334:0.6002:0.2664	.|.	.|.	.|.	.|.	D|T	62|185	.|.	.|.	A|P	-|-	2|1	0|0	DENND5A|DENND5A	9123198|9123198	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.546000|1.546000	0.36179|0.36179	2.661000|2.661000	0.90470|0.90470	0.650000|0.650000	0.86243|0.86243	GCC|CCA	DENND5A-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385912.1		-	ENST00000530044.1	Silent	SNP	11 : 9166622 - 9166622 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	608	89
CCND2	894	broad.mit.edu	37	12	4385275	4385275	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4385275C>T	ENST00000261254.3	+	2	569	c.300C>T	c.(298-300)ctC>ctT	p.L100L	RP11-264F23.3_ENST00000539135.1_RNA	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	100	Cyclin N-terminal.				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			ATCTGCAACTCCTGGGTGCTG	0.562		NA	T	IGL@	NHL,CLL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		12	12p13	894	cyclin D2		L	0													79	73	75			NA	NA	12		NA											NA				4385275		2203	4300	6503	SO:0001819	synonymous_variant			AF518005	CCDS8524.1	12p13	2008-08-04			ENSG00000118971	ENSG00000118971	894	894			1583	protein-coding gene	gene with protein product	G1/S-specific cyclin D2	123833			NA	1386335	Standard	NM_001759	NM_001759	NA	Approved		uc001qmo.3	P30279	OTTHUMG00000168123	ENST00000261254.3:c.300C>T	12.37:g.4385275C>T		NA	A8K531|Q13955|Q5U035	37	CCDS8524.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.691942	0.48097	.	.	ENSG00000118971	ENST00000536537	.	.	.	5.15	-4.5	0.03493	.	.	.	.	.	T	0.47078	0.1426	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47302	-0.9128	4	.	.	.	.	5.4715	0.16672	0.0872:0.2265:0.4763:0.2101	.	.	.	.	S	16	.	.	P	+	1	0	CCND2	4255536	0.923000	0.31300	0.990000	0.47175	0.991000	0.79684	-0.030000	0.12308	-0.393000	0.07739	0.555000	0.69702	CCT	CCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398287.1		+	ENST00000261254.3	Silent	SNP	12 : 4385275 - 4385275 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	403	72
CCNE1	898	broad.mit.edu	37	19	30313164	30313164	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30313164C>A	ENST00000262643.3	+	10	1137	c.858C>A	c.(856-858)gtC>gtA	p.V286V	CCNE1_ENST00000444983.2_Silent_p.V271V|CCNE1_ENST00000357943.5_Silent_p.V243V	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	286					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			ATCTCTGTGTCCTGGATGTTG	0.473		NA	A		serous ovarian									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		19	19q12	898	cyclin E1		E	0													332	266	288			NA	NA	19		NA											NA				30313164		2203	4300	6503	SO:0001819	synonymous_variant			M73812	CCDS12419.1	19q12	2014-07-03			ENSG00000105173	ENSG00000105173	898	898			1589	protein-coding gene	gene with protein product	cyclin Es, cyclin Et	123837		CCNE	NA	1833066	Standard	NM_001238	NM_001238	NA	Approved		uc002nsn.3	P24864	OTTHUMG00000177626	ENST00000262643.3:c.858C>A	19.37:g.30313164C>A		NA	A8K684|Q14091|Q8NFG1|Q92501|Q9UD21	37	CCDS12419.1																																																																																			CCNE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438138.1		+	ENST00000262643.3	Silent	SNP	19 : 30313164 - 30313164 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	891	164
SLC2A14	144195	broad.mit.edu	37	12	7982451	7982451	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7982451A>G	ENST00000543909.1	-	10	1252	c.493T>C	c.(493-495)Tac>Cac	p.Y165H	SLC2A14_ENST00000431042.2_Missense_Mutation_p.Y142H|SLC2A14_ENST00000396589.2_Missense_Mutation_p.Y165H|SLC2A14_ENST00000539924.1_Missense_Mutation_p.Y180H|SLC2A14_ENST00000542546.1_Missense_Mutation_p.Y56H|SLC2A14_ENST00000340749.5_Missense_Mutation_p.Y142H|SLC2A14_ENST00000535295.1_Missense_Mutation_p.Y56H|SLC2A14_ENST00000542505.1_Intron			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	165					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TCTCCAATGTACATGGGCACA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	75	78			NA	NA	12		NA											NA				7982451		2203	4300	6503	SO:0001583	missense			AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262	144195	144195		Solute carriers	18301	protein-coding gene	gene with protein product		611039	solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3	SLC2A3P3	NA	12504846	Standard	NM_153449	NM_001286234	NA	Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.493T>C	12.37:g.7982451A>G	ENSP00000440480:p.Tyr165His	NA	B3KVB5|B3KWW7|Q6UY84|Q8TDB9	37	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	a	19.36	3.812660	0.70912	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924;ENST00000546234;ENST00000542782	T;T;T;T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49	3.41	3.41	0.39046	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.92499	0.7618	H	0.98005	4.125	0.53005	D	0.999964	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.999	D	0.92989	0.6413	10	0.87932	D	0	.	9.8101	0.40817	1.0:0.0:0.0:0.0	.	180;56;142;165	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	H	142;165;142;165;56;56;180;142;142	ENSP00000340450:Y142H;ENSP00000440480:Y165H;ENSP00000407287:Y142H;ENSP00000379834:Y165H;ENSP00000440492:Y56H;ENSP00000443903:Y56H;ENSP00000445929:Y180H;ENSP00000440043:Y142H;ENSP00000438312:Y142H	ENSP00000340450:Y142H	Y	-	1	0	SLC2A14	7873718	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	8.180000	0.89694	1.174000	0.42811	0.377000	0.23210	TAC	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399836.2		-	ENST00000543909.1	Missense_Mutation	SNP	12 : 7982451 - 7982451 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	55
SDK1	221935	broad.mit.edu	37	7	4213928	4213928	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4213928C>T	ENST00000389531.3	+	33	4875	c.4875C>T	c.(4873-4875)gcC>gcT	p.A1625A	SDK1_ENST00000404826.2_Silent_p.A1625A			Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1625	Fibronectin type-III 10.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGTATGAAGCCGGGTCAGGCA	0.552		NA											C	0	0	NA	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0	0	EXOME	NA	NA	0.0028	SNP								NA				0								C		0,4406		0,0,2203	202	196	198		4875	-9.8	0	7		198	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SDK1	NM_152744.3		0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077		1625/2214	4213928	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555	221935	221935		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	19307	protein-coding gene	gene with protein product		607216	sidekick homolog 1 (chicken), sidekick homolog 1, cell adhesion molecule (chicken)		NA	12230981, 17307840, 15213259	Standard	NM_152744	NM_001079653	NA	Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000389531.3:c.4875C>T	7.37:g.4213928C>T		NA	Q8TEN9|Q8TEP5|Q96N44	37																																																																																				SDK1-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000323705.2		+	ENST00000389531.3	Silent	SNP	7 : 4213928 - 4213928 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1355	251
SZT2	23334	broad.mit.edu	37	1	43890022	43890022	+	Translation_Start_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43890022G>A	ENST00000562955.1	+	16	2390	c.2390G>A	c.(2389-2391)cGc>cAc	p.R797H	SZT2_ENST00000372442.1_De_novo_Start_OutOfFrame	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	797						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TACCATCAGCGCTGGCTTTGG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	91	95			NA	NA	1		NA											NA				43890022		876	1990	2866	SO:0001583	missense			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198	23334	23334			29040	protein-coding gene	gene with protein product	seizure threshold 2 homolog A (mouse), seizure threshold 2 homolog B (mouse)	615463	chromosome 1 open reading frame 84, KIAA0467	C1orf84, KIAA0467	NA	9455484	Standard	NM_015284	NM_015284	NA	Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.2390G>A	1.37:g.43890022G>A	ENSP00000457168:p.Arg797His	NA	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	37	CCDS30694.2																																																																																			SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019517.3		+	ENST00000562955.1	Missense_Mutation	SNP	1 : 43890022 - 43890022 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	383	40
NEB	4703	broad.mit.edu	37	2	152584236	152584236	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152584236T>C	ENST00000604864.1	-	3	262	c.263A>G	c.(262-264)cAc>cGc	p.H88R	NEB_ENST00000172853.10_Missense_Mutation_p.H88R|NEB_ENST00000397345.3_Missense_Mutation_p.H88R|NEB_ENST00000603639.1_Missense_Mutation_p.H88R|NEB_ENST00000409198.1_Missense_Mutation_p.H88R|NEB_ENST00000427231.2_Missense_Mutation_p.H88R			P20929	NEBU_HUMAN	nebulin	88					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTCTGACTGTGTGCAATGTA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	75	76			NA	NA	2		NA											NA				152584236		1902	4128	6030	SO:0001583	missense			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091	4703	4703			7720	protein-coding gene	gene with protein product	nemaline myopathy type 2	161650		NEM2	NA	10051637, 9359044	Standard	NM_004543	NM_001164507	NA	Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000604864.1:c.263A>G	2.37:g.152584236T>C	ENSP00000474498:p.His88Arg	NA	Q15346|Q53QQ2|Q53TG8	37	CCDS54408.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.329017	0.81690	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000439291	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.38214	0.1032	N	0.13272	0.32	0.80722	D	1	B	0.33841	0.428	P	0.44921	0.464	T	0.18555	-1.0333	10	0.06365	T	0.9	.	15.3932	0.74767	0.0:0.0:0.0:1.0	.	88	P20929	NEBU_HUMAN	R	88	ENSP00000386259:H88R;ENSP00000380505:H88R;ENSP00000416578:H88R;ENSP00000172853:H88R	ENSP00000172853:H88R	H	-	2	0	NEB	152292482	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.010000	0.76353	2.308000	0.77769	0.533000	0.62120	CAC	NEB-018	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000469063.1		-	ENST00000604864.1	Missense_Mutation	SNP	2 : 152584236 - 152584236 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	316	46
ZBBX	79740	broad.mit.edu	37	3	167078481	167078481	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167078481G>T	ENST00000392766.2	-	7	644	c.304C>A	c.(304-306)Ctg>Atg	p.L102M	ZBBX_ENST00000307529.5_Missense_Mutation_p.L102M|ZBBX_ENST00000392764.1_Missense_Mutation_p.L73M|ZBBX_ENST00000455345.2_Missense_Mutation_p.L102M|ZBBX_ENST00000392767.2_Missense_Mutation_p.L102M|ZBBX_ENST00000469220.1_Intron	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	102						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TGTTCCTTCAGCAATTTTAAT	0.254		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	38	38			NA	NA	3		NA											NA				167078481		1778	4036	5814	SO:0001583	missense			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064	79740	79740			26245	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024687	NM_024687	NA	Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.304C>A	3.37:g.167078481G>T	ENSP00000376519:p.Leu102Met	NA	A8MV69|B3KSC1|B5MDJ6|Q9H5T8	37	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	G	15.16	2.752272	0.49362	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764;ENST00000474464	T;T;T;T;T;T	0.40756	2.36;2.36;2.37;2.37;2.19;1.02	5.71	3.92	0.45320	.	.	.	.	.	T	0.59142	0.2172	M	0.66939	2.045	0.32798	N	0.500289	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.67647	-0.5617	9	0.66056	D	0.02	-2.8561	8.7091	0.34374	0.1735:0.0:0.8265:0.0	.	102;102	A8MT70-2;A8MT70	.;ZBBX_HUMAN	M	102;102;102;102;73;102	ENSP00000376519:L102M;ENSP00000376520:L102M;ENSP00000390232:L102M;ENSP00000305065:L102M;ENSP00000376517:L73M;ENSP00000419307:L102M	ENSP00000305065:L102M	L	-	1	2	ZBBX	168561175	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	3.899000	0.56288	0.887000	0.36136	0.650000	0.86243	CTG	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257657.3		-	ENST00000392766.2	Missense_Mutation	SNP	3 : 167078481 - 167078481 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	164	26
KIF6	221458	broad.mit.edu	37	6	39353422	39353422	+	Missense_Mutation	SNP	G	G	A	rs139112928		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39353422G>A	ENST00000287152.7	-	16	1931	c.1837C>T	c.(1837-1839)Cgg>Tgg	p.R613W	KIF6_ENST00000373216.3_Missense_Mutation_p.R613W|KIF6_ENST00000373213.4_Missense_Mutation_p.R452W|KIF6_ENST00000229913.5_Missense_Mutation_p.R64W|KIF6_ENST00000373215.3_Intron|KIF6_ENST00000394362.1_Missense_Mutation_p.R64W|KIF6_ENST00000541946.1_Missense_Mutation_p.R64W|KIF6_ENST00000538893.1_Missense_Mutation_p.R557W	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	613					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	p.R613W(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGTATATGCCGCTGGGTGATT	0.468		NA											g	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	4e-04	0.95	EXOME	NA	NA	0.001	SNP								NA				2	Substitution - Missense(2)	lung(2)						G	TRP/ARG	0,4406		0,0,2203	121	114	116		1837	0.4	1	6	dbSNP_134	116	3,8597	3.0+/-9.4	0,3,4297	yes	missense	KIF6	NM_145027.4	101	0,3,6500	AA,AG,GG	NA	0.0349,0.0,0.0231	probably-damaging	613/815	39353422	3,13003	2203	4300	6503	SO:0001583	missense			AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627	221458	221458		Kinesins	21202	protein-coding gene	gene with protein product		613919	chromosome 6 open reading frame 102	C6orf102	NA		Standard	NM_145027	NM_145027	NA	Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1837C>T	6.37:g.39353422G>A	ENSP00000287152:p.Arg613Trp	NA	Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	37	CCDS4844.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	19.09	3.760680	0.69763	0.0	3.49E-4	ENSG00000164627	ENST00000287152;ENST00000394362;ENST00000373216;ENST00000373213;ENST00000229913;ENST00000538893;ENST00000541946;ENST00000540362	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.73	0.423	0.16463	.	.	.	.	.	T	0.40839	0.1133	L	0.61218	1.895	0.37614	D	0.921045	D;D;B	0.89917	1.0;0.999;0.059	D;P;B	0.72075	0.976;0.827;0.01	T	0.40887	-0.9539	9	0.87932	D	0	.	4.4564	0.11645	0.0749:0.1226:0.3222:0.4803	.	557;613;613	F6VGH2;Q6ZMV9-3;Q6ZMV9	.;.;KIF6_HUMAN	W	613;64;613;452;64;557;64;64	ENSP00000287152:R613W;ENSP00000377889:R64W;ENSP00000362312:R613W;ENSP00000362309:R452W;ENSP00000229913:R64W;ENSP00000441435:R557W;ENSP00000439064:R64W	ENSP00000229913:R64W	R	-	1	2	KIF6	39461400	1.000000	0.71417	0.999000	0.59377	0.786000	0.44442	1.070000	0.30653	0.125000	0.18397	-0.147000	0.13772	CGG	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040455.2		-	ENST00000287152.7	Missense_Mutation	SNP	6 : 39353422 - 39353422 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	63
MUC16	94025	broad.mit.edu	37	19	9089523	9089523	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9089523C>T	ENST00000397910.4	-	1	2495	c.2292G>A	c.(2290-2292)aaG>aaA	p.K764K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	764	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						CTGAGCTGGGCTTTGTCTTTG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													206	209	208			NA	NA	19		NA											NA				9089523		2083	4225	6308	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.2292G>A	19.37:g.9089523C>T		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 : 9089523 - 9089523 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	827	146
SCAND3	0	broad.mit.edu	37	6	28542469	28542469	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28542469C>T	ENST00000452236.2	-	3	2630	c.2013G>A	c.(2011-2013)atG>atA	p.M671I		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN		671					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ATGGCTTTAGCATTTTGGAAG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	170	169			NA	NA	6		NA											NA				28542469		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000452236.2:c.2013G>A	6.37:g.28542469C>T	ENSP00000395259:p.Met671Ile	NA	Q2NKL9|Q5SRJ3|Q8TCN2|Q96MV9|Q96PW3	37	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.925525	0.34002	.	.	ENSG00000232040	ENST00000452236	T	0.02395	4.31	3.51	2.63	0.31362	.	.	.	.	.	T	0.01287	0.0042	L	0.54323	1.7	0.24768	N	0.992881	B	0.02656	0.0	B	0.04013	0.001	T	0.43327	-0.9398	9	0.72032	D	0.01	.	6.8742	0.24137	0.0:0.8686:0.0:0.1314	.	671	Q6R2W3	SCND3_HUMAN	I	671	ENSP00000395259:M671I	ENSP00000395259:M671I	M	-	3	0	SCAND3	28650448	0.996000	0.38824	0.876000	0.34364	0.989000	0.77384	1.206000	0.32321	0.817000	0.34445	0.563000	0.77884	ATG	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043551.3		-	ENST00000452236.2	Missense_Mutation	SNP	6 : 28542469 - 28542469 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1129	178
GCSAML	148823	broad.mit.edu	37	1	247737654	247737654	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247737654G>T	ENST00000366491.2	+	7	815	c.318G>T	c.(316-318)gaG>gaT	p.E106D	GCSAML_ENST00000527084.1_Missense_Mutation_p.E94D|GCSAML_ENST00000536561.1_Missense_Mutation_p.E106D|GCSAML_ENST00000463359.1_Missense_Mutation_p.E94D|GCSAML_ENST00000366489.1_Missense_Mutation_p.E106D|GCSAML_ENST00000366488.4_Missense_Mutation_p.E126D|GCSAML_ENST00000527541.1_Missense_Mutation_p.E94D|RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001281834.1	NP_001268763.1			germinal center-associated, signaling and motility-like	NA											NA						GCACCCATGAGCATGATTATG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	125	132			NA	NA	1		NA											NA				247737654		2203	4300	6503	SO:0001583	missense			AK126682	CCDS1635.1, CCDS60470.1, CCDS73058.1	1q44	2012-08-23	2012-08-23	2012-08-23	ENSG00000169224	ENSG00000169224	148823	148823			29583	protein-coding gene	gene with protein product			chromosome 1 open reading frame 150	C1orf150	NA		Standard	NM_145278	NM_001281834	NA	Approved	FLJ44728	uc001idf.3	Q5JQS6	OTTHUMG00000040648	ENST00000366491.2:c.318G>T	1.37:g.247737654G>T	ENSP00000355447:p.Glu106Asp	NA		37		.	.	.	.	.	.	.	.	.	.	G	16.41	3.114676	0.56505	.	.	ENSG00000169224	ENST00000527084;ENST00000527541;ENST00000366491;ENST00000366489;ENST00000463359;ENST00000366488;ENST00000536561	.	.	.	3.91	-2.51	0.06365	.	0.572447	0.14497	N	0.315986	T	0.40473	0.1118	M	0.70275	2.135	0.09310	N	1	B	0.16603	0.018	B	0.17722	0.019	T	0.37150	-0.9718	9	0.36615	T	0.2	-0.8533	7.4128	0.27027	0.0:0.449:0.2471:0.3039	.	126	Q5JQS6	CA150_HUMAN	D	94;94;106;106;94;126;106	.	ENSP00000355444:E126D	E	+	3	2	C1orf150	245804277	0.018000	0.18449	0.004000	0.12327	0.356000	0.29392	-0.718000	0.04980	-0.221000	0.09973	0.591000	0.81541	GAG	GCSAML-003	KNOWN	alternative_5_UTR|basic	protein_coding	NA	protein_coding	OTTHUMT00000097747.2		+	ENST00000366491.2	Missense_Mutation	SNP	1 : 247737654 - 247737654 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	498	129
RRAGB	10325	broad.mit.edu	37	X	55748704	55748704	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:55748704G>A	ENST00000374941.4	+	3	801	c.212G>A	c.(211-213)cGc>cAc	p.R71H	RRAGB_ENST00000262850.7_Missense_Mutation_p.R71H	NM_006064.4	NP_006055.3	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B	71					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding			breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						GACACACGTCGCCTTGGCGCA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	92	98			NA	NA	X		NA											NA				55748704		2203	4300	6503	SO:0001583	missense			X90530	CCDS14371.1, CCDS14372.1	Xp11.21	2008-02-05			ENSG00000083750	ENSG00000083750	10325	10325			19901	protein-coding gene	gene with protein product		300725			NA	7499430, 9394008	Standard	NM_016656	NM_006064	NA	Approved		uc004dup.3	Q5VZM2	OTTHUMG00000021662	ENST00000374941.4:c.212G>A	X.37:g.55748704G>A	ENSP00000364077:p.Arg71His	NA	A8K042|Q15348|Q8N3T0	37	CCDS14371.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.542817	0.65198	.	.	ENSG00000083750	ENST00000374941;ENST00000414239;ENST00000262850	T;T	0.68025	-0.3;-0.2	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.80502	0.4635	M	0.86502	2.82	0.80722	D	1	D;P	0.89917	1.0;0.593	P;B	0.58172	0.834;0.117	D	0.83654	0.0157	10	0.51188	T	0.08	-5.9192	14.5113	0.67789	0.0:0.0:1.0:0.0	.	71;71	Q5VZM2-2;Q5VZM2	.;RRAGB_HUMAN	H	71;33;71	ENSP00000364077:R71H;ENSP00000410630:R33H	ENSP00000262850:R71H	R	+	2	0	RRAGB	55765429	1.000000	0.71417	0.990000	0.47175	0.979000	0.70002	8.725000	0.91468	2.224000	0.72417	0.544000	0.68410	CGC	RRAGB-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056879.1		+	ENST00000374941.4	Missense_Mutation	SNP	X : 55748704 - 55748704 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	196	51
PCDHB10	56126	broad.mit.edu	37	5	140574052	140574052	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140574052C>A	ENST00000239446.4	+	1	2111	c.1927C>A	c.(1927-1929)Ctt>Att	p.L643I		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	643	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCGTGGTGCTTGTCAAGGA	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	24	23			NA	NA	5		NA											NA				140574052		2049	3906	5955	SO:0001583	missense			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324	56126	56126		Cadherins / Protocadherins : Clustered	8681	other	protocadherin		606336			NA	10380929	Standard	NM_018930	NM_018930	NA	Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1927C>A	5.37:g.140574052C>A	ENSP00000239446:p.Leu643Ile	NA	Q96T99	37	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	c	9.641	1.139023	0.21205	.	.	ENSG00000120324	ENST00000239446	T	0.59638	0.25	3.03	2.14	0.27477	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.52948	0.1766	L	0.50847	1.595	0.09310	N	1	P	0.39480	0.675	P	0.46585	0.521	T	0.51639	-0.8680	9	0.62326	D	0.03	.	1.7846	0.03039	0.1832:0.4151:0.2742:0.1275	.	643	Q9UN67	PCDBA_HUMAN	I	643	ENSP00000239446:L643I	ENSP00000239446:L643I	L	+	1	0	PCDHB10	140554236	0.000000	0.05858	0.997000	0.53966	0.145000	0.21501	-1.908000	0.01587	1.704000	0.51252	0.298000	0.19748	CTT	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251821.1		+	ENST00000239446.4	Missense_Mutation	SNP	5 : 140574052 - 140574052 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	165	95
RASL11B	65997	broad.mit.edu	37	4	53731794	53731794	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:53731794T>C	ENST00000248706.3	+	4	787	c.569T>C	c.(568-570)gTc>gCc	p.V190A	RASL11B_ENST00000505041.1_3'UTR	NM_023940.2	NP_076429.1	Q9BPW5	RSLBB_HUMAN	RAS-like, family 11, member B	190	Small GTPase-like.				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			TATAATGATGTCTACAGCGCC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													173	170	171			NA	NA	4		NA											NA				53731794		2203	4300	6503	SO:0001583	missense			BK001672	CCDS3490.1	4q12	2014-05-09			ENSG00000128045	ENSG00000128045	65997	65997			23804	protein-coding gene	gene with protein product		612404			NA		Standard	NM_023940	NM_023940	NA	Approved		uc003gzt.3	Q9BPW5	OTTHUMG00000102097	ENST00000248706.3:c.569T>C	4.37:g.53731794T>C	ENSP00000248706:p.Val190Ala	NA	B2RC51|Q96KC5	37	CCDS3490.1	.	.	.	.	.	.	.	.	.	.	T	16.26	3.071696	0.55646	.	.	ENSG00000128045	ENST00000248706	D	0.82167	-1.58	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.91895	0.7434	M	0.86573	2.825	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.93249	0.6633	10	0.87932	D	0	.	14.9182	0.70815	0.0:0.0:0.0:1.0	.	190	Q9BPW5	RSLBB_HUMAN	A	190	ENSP00000248706:V190A	ENSP00000248706:V190A	V	+	2	0	RASL11B	53426551	1.000000	0.71417	0.996000	0.52242	0.042000	0.13812	7.694000	0.84235	2.099000	0.63709	0.533000	0.62120	GTC	RASL11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219931.2		+	ENST00000248706.3	Missense_Mutation	SNP	4 : 53731794 - 53731794 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1131	195
NCOA1	8648	broad.mit.edu	37	2	24905930	24905930	+	Silent	SNP	C	C	T	rs143048201		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24905930C>T	ENST00000405141.1	+	9	1176	c.465C>T	c.(463-465)agC>agT	p.S155S	NCOA1_ENST00000288599.5_Silent_p.S155S|NCOA1_ENST00000538539.1_Silent_p.S155S|NCOA1_ENST00000406961.1_Silent_p.S155S|NCOA1_ENST00000348332.3_Silent_p.S155S|NCOA1_ENST00000395856.3_Silent_p.S155S|NCOA1_ENST00000407230.1_Silent_p.S4S			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	155	PAS.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAATACGAGCGTCTACAGCA	0.368		NA	T	PAX3	alveolar rhadomyosarcoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	0								C	,,	3,4403	6.2+/-15.9	0,3,2200	86	83	84		465,465,465	-2.9	1	2	dbSNP_134	84	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	NCOA1	NM_003743.4,NM_147223.2,NM_147233.2	,,	0,3,6500	TT,TC,CC	NA	0.0,0.0681,0.0231	,,	155/1442,155/1400,155/1441	24905930	3,13003	2203	4300	6503	SO:0001819	synonymous_variant			U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676	8648	8648		Chromatin-modifying enzymes / K-acetyltransferases, Basic helix-loop-helix proteins	7668	protein-coding gene	gene with protein product		602691			NA	7481822, 9575154	Standard	NM_147223	XM_005264625	NA	Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000405141.1:c.465C>T	2.37:g.24905930C>T		NA	O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	37	CCDS1713.1																																																																																			NCOA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000246853.2		+	ENST00000405141.1	Silent	SNP	2 : 24905930 - 24905930 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	419	60
PPAP2B	8613	broad.mit.edu	37	1	56990067	56990067	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:56990067G>A	ENST00000371250.3	-	3	1008	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C		NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	153					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						GGACGCAGGCGCCCTATGGAC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	134	134			NA	NA	1		NA											NA				56990067		2203	4300	6503	SO:0001583	missense			AB000889	CCDS604.1	1p32.2	2009-05-27			ENSG00000162407	ENSG00000162407	8613	8613	3.1.3.4		9229	protein-coding gene	gene with protein product		607125			NA	9305923	Standard	NM_003713	NM_003713	NA	Approved	PAP-2b, LPP3	uc001cyj.2	O14495	OTTHUMG00000008160	ENST00000371250.3:c.457C>T	1.37:g.56990067G>A	ENSP00000360296:p.Arg153Cys	NA	B2R651|D3DQ52|Q96GW0|Q99782	37	CCDS604.1	.	.	.	.	.	.	.	.	.	.	G	33	5.221226	0.95139	.	.	ENSG00000162407	ENST00000371250	D	0.82711	-1.64	5.7	5.7	0.88788	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95822	0.8640	H	0.99746	4.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97779	1.0231	10	0.87932	D	0	.	18.8311	0.92139	0.0:0.0:1.0:0.0	.	153	O14495	LPP3_HUMAN	C	153	ENSP00000360296:R153C	ENSP00000360296:R153C	R	-	1	0	PPAP2B	56762655	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.776000	0.99001	2.679000	0.91253	0.655000	0.94253	CGC	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022334.2		-	ENST00000371250.3	Missense_Mutation	SNP	1 : 56990067 - 56990067 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	721	76
SLC25A48	153328	broad.mit.edu	37	5	135207441	135207441	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:135207441T>C	ENST00000274513.5	+	5	885	c.713T>C	c.(712-714)gTg>gCg	p.V238A	SLC25A48_ENST00000420621.1_Intron|SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000412661.2_Intron|SLC25A48_ENST00000433282.2_Intron			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	237					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						CGCACCCCTGTGCAGGCCACA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	23	22			NA	NA	5		NA											NA				135207441		1960	4152	6112	SO:0001583	missense				CCDS43366.2	5q31.1	2013-05-22			ENSG00000145832	ENSG00000145832	153328	153328		Solute carriers	30451	protein-coding gene	gene with protein product	HCC-down-regulated mitochondrial carrier protein				NA	15322095, 19303656	Standard	NM_145282	NM_145282	NA	Approved	FLJ44862, HDMCP	uc003lba.3	Q6ZT89	OTTHUMG00000157007	ENST00000274513.5:c.713T>C	5.37:g.135207441T>C	ENSP00000274513:p.Val238Ala	NA	Q8TAV9	37		.	.	.	.	.	.	.	.	.	.	T	12.19	1.865098	0.32977	.	.	ENSG00000145832	ENST00000274513	D	0.82081	-1.57	4.77	-2.37	0.06643	.	2.020340	0.03043	N	0.153621	T	0.68924	0.3054	.	.	.	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.53767	-0.8392	9	0.19147	T	0.46	.	8.3027	0.32023	0.0:0.3108:0.5039:0.1853	.	238	Q6ZT89-2	.	A	238	ENSP00000274513:V238A	ENSP00000274513:V238A	V	+	2	0	SLC25A48	135235340	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.465000	0.06680	-0.233000	0.09797	-0.464000	0.05259	GTG	SLC25A48-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000347064.1		+	ENST00000274513.5	Missense_Mutation	SNP	5 : 135207441 - 135207441 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	134	23
CLK1	1195	broad.mit.edu	37	2	201722536	201722536	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201722536A>C	ENST00000434813.2	-	7	1197	c.863T>G	c.(862-864)cTt>cGt	p.L288R	CLK1_ENST00000409769.2_Missense_Mutation_p.L69R|CLK1_ENST00000321356.4_Missense_Mutation_p.L246R	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	246	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GTAAGTACTAAGTCCCAATAG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	98	100			NA	NA	2		NA											NA				201722536		2203	4300	6503	SO:0001583	missense			L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441	1195	1195		CDC-like kinases	2068	protein-coding gene	gene with protein product		601951			NA	9856501	Standard		NM_004071	NA	Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000434813.2:c.863T>G	2.37:g.201722536A>C	ENSP00000394734:p.Leu288Arg	NA	Q0P694|Q8N5V8	37	CCDS54427.1	.	.	.	.	.	.	.	.	.	.	A	17.52	3.411233	0.62399	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	T;T;T	0.20200	2.09;2.09;2.09	5.2	5.2	0.72013	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.28995	0.0720	N	0.16098	0.37	0.80722	D	1	P;P;P;D	0.89917	0.524;0.929;0.524;1.0	B;B;P;D	0.97110	0.406;0.406;0.51;1.0	T	0.11616	-1.0580	10	0.33141	T	0.24	.	15.0306	0.71705	1.0:0.0:0.0:0.0	.	288;216;246;69	B4DFW7;E9PH13;P49759;B8ZZR0	.;.;CLK1_HUMAN;.	R	246;216;69;288	ENSP00000326830:L246R;ENSP00000386358:L69R;ENSP00000394734:L288R	ENSP00000326830:L246R	L	-	2	0	CLK1	201430781	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.287000	0.95975	2.091000	0.63221	0.460000	0.39030	CTT	CLK1-007	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336140.1		-	ENST00000434813.2	Missense_Mutation	SNP	2 : 201722536 - 201722536 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	54
HSPA5	3309	broad.mit.edu	37	9	128001525	128001525	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128001525C>T	ENST00000324460.6	-	5	894	c.691G>A	c.(691-693)Gat>Aat	p.D231N		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	231					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	AGAGACACATCGAAGGTTCCG	0.488		NA								Prostate(1;0.17)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	61	60			NA	NA	9		NA											NA				128001525		2203	4300	6503	SO:0001583	missense				CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574	3309	3309		Heat shock proteins / HSP70	5238	protein-coding gene	gene with protein product		138120	heat shock 70kD protein 5 (glucose-regulated protein, 78kD)	GRP78	NA		Standard		NM_005347	NA	Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.691G>A	9.37:g.128001525C>T	ENSP00000324173:p.Asp231Asn	NA	B0QZ61|Q2EF78|Q9NPF1|Q9UK02	37	CCDS6863.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.581633	0.86748	.	.	ENSG00000044574	ENST00000324460;ENST00000401067	T	0.16324	2.35	4.36	4.36	0.52297	Heat shock protein 70, conserved site (1);	0.046186	0.85682	N	0.000000	T	0.45994	0.1370	H	0.99555	4.625	0.80722	D	1	P	0.39624	0.681	B	0.40228	0.323	T	0.70839	-0.4763	10	0.87932	D	0	-13.7685	15.8757	0.79159	0.0:1.0:0.0:0.0	.	231	P11021	GRP78_HUMAN	N	231	ENSP00000324173:D231N	ENSP00000324173:D231N	D	-	1	0	HSPA5	127041346	1.000000	0.71417	0.994000	0.49952	0.912000	0.54170	7.795000	0.85887	1.964000	0.57103	0.462000	0.41574	GAT	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054062.1		-	ENST00000324460.6	Missense_Mutation	SNP	9 : 128001525 - 128001525 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	242	26
MDN1	23195	broad.mit.edu	37	6	90406082	90406082	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90406082A>G	ENST00000369393.3	-	60	9495	c.9380T>C	c.(9379-9381)tTc>tCc	p.F3127S	MDN1_ENST00000428876.1_Missense_Mutation_p.F3127S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3127					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGAATACCTGAATTCTGCTAC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	63	66			NA	NA	6		NA											NA				90406082		2203	4300	6503	SO:0001583	missense			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159	23195	23195			18302	protein-coding gene	gene with protein product					NA	9205841, 12102729	Standard		XM_005248699	NA	Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.9380T>C	6.37:g.90406082A>G	ENSP00000358400:p.Phe3127Ser	NA	O15019|Q5T794	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	A	16.80	3.224206	0.58668	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03152	4.03;4.03	5.45	5.45	0.79879	.	0.118077	0.56097	D	0.000024	T	0.02230	0.0069	L	0.34521	1.04	0.52099	D	0.999941	D	0.54397	0.966	P	0.47299	0.543	T	0.63157	-0.6700	10	0.33141	T	0.24	.	11.2912	0.49252	0.8635:0.0:0.0:0.1365	.	3127	Q9NU22	MDN1_HUMAN	S	3127	ENSP00000358400:F3127S;ENSP00000413970:F3127S	ENSP00000358400:F3127S	F	-	2	0	MDN1	90462803	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.748000	0.74877	2.067000	0.61834	0.533000	0.62120	TTC	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041514.2		-	ENST00000369393.3	Missense_Mutation	SNP	6 : 90406082 - 90406082 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	245	53
ZNF382	84911	broad.mit.edu	37	19	37118220	37118220	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37118220G>A	ENST00000435416.1	+	3	2913	c.1418G>A	c.(1417-1419)cGc>cAc	p.R473H	ZNF382_ENST00000439428.1_Missense_Mutation_p.R473H|ZNF382_ENST00000423582.1_Missense_Mutation_p.R425H|ZNF382_ENST00000292928.2_Missense_Mutation_p.R474H			Q96SR6	ZN382_HUMAN	zinc finger protein 382	474	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAGTCCTTCCGCCAGAAGGCA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	56	55			NA	NA	19		NA											NA				37118220		2203	4300	6503	SO:0001583	missense			AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298	84911	84911		Zinc fingers, C2H2-type, -	17409	protein-coding gene	gene with protein product		609516			NA		Standard	NM_032825	NM_032825	NA	Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000435416.1:c.1418G>A	19.37:g.37118220G>A	ENSP00000410113:p.Arg473His	NA	A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	37		.	.	.	.	.	.	.	.	.	.	G	14.99	2.698821	0.48307	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	4.27	3.14	0.36123	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.160272	0.29916	N	0.010865	T	0.14960	0.0361	L	0.33339	1.005	0.28535	N	0.912416	P;P;D	0.53885	0.954;0.954;0.963	P;P;P	0.45794	0.481;0.481;0.493	T	0.04268	-1.0964	10	0.49607	T	0.09	.	10.1576	0.42831	0.0:0.3192:0.6808:0.0	.	473;473;474	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	H	425;474;473;473	ENSP00000389722:R425H;ENSP00000292928:R474H;ENSP00000407593:R473H;ENSP00000410113:R473H	ENSP00000292928:R474H	R	+	2	0	ZNF382	41810060	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	-0.056000	0.11787	2.375000	0.81037	0.591000	0.81541	CGC	ZNF382-004	KNOWN	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000340399.1		+	ENST00000435416.1	Missense_Mutation	SNP	19 : 37118220 - 37118220 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	260	19
GANC	2595	broad.mit.edu	37	15	42602499	42602499	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42602499T>C	ENST00000566442.1	+	10	1442	c.741T>C	c.(739-741)cgT>cgC	p.R247R	GANC_ENST00000318010.8_Silent_p.R247R			Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	247					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		ATGCTTACCGTCTTTATAACC	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	103	103			NA	NA	15		NA											NA				42602499		2203	4299	6502	SO:0001819	synonymous_variant			AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	2595	2595	3.2.1.20		4139	protein-coding gene	gene with protein product		104180			NA	6995030, 12370436	Standard	NM_198141	NM_198141	NA	Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000566442.1:c.741T>C	15.37:g.42602499T>C		NA	Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	37																																																																																				GANC-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000420684.1		+	ENST00000566442.1	Silent	SNP	15 : 42602499 - 42602499 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	559	16
HERC2	8924	broad.mit.edu	37	15	28413705	28413705	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28413705C>T	ENST00000261609.7	-	67	10369	c.10261G>A	c.(10261-10263)Gcc>Acc	p.A3421T		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3421					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCGATCATGGCGGCCGGCATC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	34	33			NA	NA	15		NA											NA				28413705		2203	4300	6503	SO:0001583	missense			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731	8924	8924			4868	protein-coding gene	gene with protein product		605837	hect domain and RLD 2		NA	9949213	Standard	NM_004667	NM_004667	NA	Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.10261G>A	15.37:g.28413705C>T	ENSP00000261609:p.Ala3421Thr	NA	Q86SV7|Q86SV8|Q86SV9|Q86YY3|Q86YY4|Q86YY5|Q86YY6|Q86YY7|Q86YY8|Q86YY9|Q86YZ0|Q86YZ1	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.640486	0.29157	.	.	ENSG00000128731	ENST00000261609	T	0.37584	1.19	5.46	0.624	0.17659	.	0.137592	0.64402	D	0.000006	T	0.13927	0.0337	N	0.03608	-0.345	0.24273	N	0.995238	B	0.24426	0.103	B	0.19666	0.026	T	0.18461	-1.0336	10	0.38643	T	0.18	.	7.3517	0.26695	0.0:0.3306:0.0:0.6694	.	3421	O95714	HERC2_HUMAN	T	3421	ENSP00000261609:A3421T	ENSP00000261609:A3421T	A	-	1	0	HERC2	26087300	0.977000	0.34250	0.327000	0.25402	0.051000	0.14879	2.057000	0.41365	0.293000	0.22520	0.491000	0.48974	GCC	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251358.2		-	ENST00000261609.7	Missense_Mutation	SNP	15 : 28413705 - 28413705 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	409	82
KCNH7	90134	broad.mit.edu	37	2	163374395	163374395	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163374395C>T	ENST00000332142.5	-	4	836	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	KCNH7_ENST00000328032.4_Missense_Mutation_p.R246Q|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	246					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.R246Q(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AGGGTAGAGTCGGTCCCATTG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(196;1492 2208 17507 24132 45496)							NA				1	Substitution - Missense(1)	biliary_tract(1)						C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	139	130	133		737,737	5.9	1	2		133	0,8600		0,0,4300	no	missense,missense	KCNH7	NM_033272.3,NM_173162.2	43,43	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	benign,benign	246/1197,246/733	163374395	1,13005	2203	4300	6503	SO:0001583	missense			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611	90134	90134		Potassium channels, Voltage-gated ion channels / Potassium channels	18863	protein-coding gene	gene with protein product		608169			NA	16382104	Standard	NM_033272	NM_173162	NA	Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.737G>A	2.37:g.163374395C>T	ENSP00000331727:p.Arg246Gln	NA	Q53QU4|Q53TB7|Q53TP9|Q8IV15	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096976	0.56075	2.27E-4	0.0	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.98617	-5.03;-5.03	5.9	5.9	0.94986	.	0.063150	0.64402	D	0.000004	D	0.95452	0.8523	N	0.19112	0.55	0.39103	D	0.961326	B;B	0.18461	0.01;0.028	B;B	0.12837	0.003;0.008	D	0.92969	0.6396	10	0.23891	T	0.37	.	13.4585	0.61212	0.0:0.9285:0.0:0.0715	.	246;246	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	Q	246	ENSP00000331727:R246Q;ENSP00000333781:R246Q	ENSP00000333781:R246Q	R	-	2	0	KCNH7	163082641	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.267000	0.43329	2.791000	0.96007	0.655000	0.94253	CGA	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255093.1		-	ENST00000332142.5	Missense_Mutation	SNP	2 : 163374395 - 163374395 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	560	138
CCNK	8812	broad.mit.edu	37	14	99959071	99959071	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99959071C>T	ENST00000389879.5	+	2	180	c.57C>T	c.(55-57)caC>caT	p.H19H	CCNK_ENST00000557165.1_3'UTR|CCNK_ENST00000555049.1_Silent_p.H19H	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	19					cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				ACCTGGACCACACAAAGCCAT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	64	65			NA	NA	14		NA											NA				99959071		1904	4122	6026	SO:0001819	synonymous_variant			AF060515	CCDS45160.1	14q32.2	2014-07-03			ENSG00000090061	ENSG00000090061	8812	8812			1596	protein-coding gene	gene with protein product		603544			NA	9632813, 10574912	Standard		NM_001099402	NA	Approved	CPR4	uc001ygi.4	O75909	OTTHUMG00000171495	ENST00000389879.5:c.57C>T	14.37:g.99959071C>T		NA	Q59FT6|Q86U16|Q96B63|Q9NNY9	37	CCDS45160.1																																																																																			CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413721.1		+	ENST00000389879.5	Silent	SNP	14 : 99959071 - 99959071 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	149	20
CPA5	93979	broad.mit.edu	37	7	130002306	130002306	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130002306G>T	ENST00000485477.1	+	7	1691	c.562G>T	c.(562-564)Gcc>Tcc	p.A188S	CPA5_ENST00000431780.2_Missense_Mutation_p.A188S|CPA5_ENST00000461828.1_Missense_Mutation_p.A188S|CPA5_ENST00000355388.3_Missense_Mutation_p.A188S|CPA5_ENST00000474905.1_Missense_Mutation_p.A188S|CPA5_ENST00000393213.3_Missense_Mutation_p.A188S|CPA5_ENST00000466363.2_Missense_Mutation_p.A188S			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	188					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					TCGGCACCCAGCCATCTGGAT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	51	53			NA	NA	7		NA											NA				130002306		2203	4300	6503	SO:0001583	missense			AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525	93979	93979			15722	protein-coding gene	gene with protein product		609561			NA	11836249	Standard	NM_001127441	NM_080385	NA	Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.562G>T	7.37:g.130002306G>T	ENSP00000420237:p.Ala188Ser	NA	Q86SE2|Q86XM3|Q8NA08	37	CCDS5819.1	.	.	.	.	.	.	.	.	.	.	G	35	5.441848	0.96187	.	.	ENSG00000158525	ENST00000355388;ENST00000461828;ENST00000466363;ENST00000485477;ENST00000431780;ENST00000474905;ENST00000393213	T;T;T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8;2.8;2.8	5.87	5.87	0.94306	Peptidase M14, carboxypeptidase A (4);	0.088968	0.49305	D	0.000146	T	0.33059	0.0850	M	0.67953	2.075	0.44966	D	0.997988	D;D	0.64830	0.987;0.994	D;D	0.71656	0.969;0.974	T	0.00189	-1.1939	9	.	.	.	.	19.1932	0.93675	0.0:0.0:1.0:0.0	.	188;188	G3V0G8;Q8WXQ8	.;CBPA5_HUMAN	S	188	ENSP00000347549:A188S;ENSP00000418183:A188S;ENSP00000419025:A188S;ENSP00000420237:A188S;ENSP00000393045:A188S;ENSP00000417314:A188S;ENSP00000376907:A188S	.	A	+	1	0	CPA5	129789542	1.000000	0.71417	0.982000	0.44146	0.994000	0.84299	9.346000	0.97056	2.777000	0.95525	0.591000	0.81541	GCC	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349712.1		+	ENST00000485477.1	Missense_Mutation	SNP	7 : 130002306 - 130002306 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	10
STX18	53407	broad.mit.edu	37	4	4421790	4421790	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:4421790A>G	ENST00000505286.1	-	10	958				STX18_ENST00000306200.2_Silent_p.L327L			Q9P2W9	STX18_HUMAN	syntaxin 18	NA					ER to Golgi vesicle-mediated transport|intracellular protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	SNAP receptor activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		AGGAAGAGCAAGGAGAAGGAG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	62	66			NA	NA	4		NA											NA				4421790		2203	4300	6503	SO:0001627	intron_variant			AB028741	CCDS3377.1	4p16.3-p16.2	2013-09-23			ENSG00000168818	ENSG00000168818	53407	53407			15942	protein-coding gene	gene with protein product		606046			NA	10788491	Standard		NM_016930	NA	Approved	Ufe1	uc003gic.3	Q9P2W9	OTTHUMG00000090331	ENST00000505286.1:c.912+800T>C	4.37:g.4421790A>G		NA	Q596L3|Q5TZP5	37																																																																																				STX18-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000358558.1		-	ENST00000505286.1	Intron	SNP	4 : 4421790 - 4421790 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	114	14
ZNF226	7769	broad.mit.edu	37	19	44680638	44680638	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44680638C>T	ENST00000590089.1	+	7	1590	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Missense_Mutation_p.S408F|ZNF226_ENST00000454662.2_Missense_Mutation_p.S408F			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				NA		Prostate(69;0.0352)|all_neural(266;0.202)				CATCTTCAATCCCATCAAAGA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(115;581 1665 13228 19278 50070)							NA				0													64	68	67			NA	NA	19		NA											NA				44680638		2198	4299	6497	SO:0001583	missense			AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380	7769	7769		Zinc fingers, C2H2-type, -	13019	protein-coding gene	gene with protein product					NA		Standard		NM_001146220	NA	Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.1223C>T	19.37:g.44680638C>T	ENSP00000465121:p.Ser408Phe	NA	Q96TE6|Q9NS44	37	CCDS46102.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.122901	0.37436	.	.	ENSG00000167380	ENST00000337433;ENST00000454662	T;T	0.08008	3.14;3.14	3.92	2.79	0.32731	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.564716	0.13501	N	0.383210	T	0.21509	0.0518	L	0.50333	1.59	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	T	0.02184	-1.1199	10	0.54805	T	0.06	.	12.2773	0.54744	0.1699:0.83:0.0:0.0	.	408	Q9NYT6	ZN226_HUMAN	F	408	ENSP00000336719:S408F;ENSP00000393265:S408F	ENSP00000336719:S408F	S	+	2	0	ZNF226	49372478	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	-1.425000	0.02446	2.201000	0.70794	0.655000	0.94253	TCC	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460712.1		+	ENST00000590089.1	Missense_Mutation	SNP	19 : 44680638 - 44680638 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	347	71
AP4B1	10717	broad.mit.edu	37	1	114440517	114440517	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114440517G>A	ENST00000369569.1	-	7	1527	c.1247C>T	c.(1246-1248)aCt>aTt	p.T416I	AP4B1_ENST00000369567.1_Missense_Mutation_p.T248I|AP4B1_ENST00000462591.1_5'UTR|AP4B1_ENST00000256658.4_Missense_Mutation_p.T416I|AP4B1-AS1_ENST00000419536.1_RNA	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	416					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACAGCTTCAGTACACTGAGG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	113	121			NA	NA	1		NA											NA				114440517		2203	4300	6503	SO:0001583	missense			AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262	10717	10717			572	protein-coding gene	gene with protein product	beta 4 subunit of AP-4	607245	spastic paraplegia 47	SPG47	NA	10066790	Standard	NM_006594	NM_006594	NA	Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.1247C>T	1.37:g.114440517G>A	ENSP00000358582:p.Thr416Ile	NA	Q59EJ4|Q96CL6	37	CCDS865.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887404	0.52014	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658	T;T;T	0.25414	1.8;1.8;1.8	5.52	4.6	0.57074	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.314320	0.37437	N	0.002085	T	0.04092	0.0114	N	0.01431	-0.87	0.80722	D	1	B;B;B	0.17038	0.005;0.02;0.012	B;B;B	0.19666	0.026;0.018;0.014	T	0.16100	-1.0414	10	0.40728	T	0.16	.	9.7978	0.40746	0.1548:0.0:0.8452:0.0	.	248;416;317	B1ALD0;Q9Y6B7;B4DTG3	.;AP4B1_HUMAN;.	I	248;416;416	ENSP00000358580:T248I;ENSP00000358582:T416I;ENSP00000256658:T416I	ENSP00000256658:T416I	T	-	2	0	AP4B1	114242040	1.000000	0.71417	0.980000	0.43619	0.988000	0.76386	3.377000	0.52425	2.588000	0.87417	0.462000	0.41574	ACT	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033037.1		-	ENST00000369569.1	Missense_Mutation	SNP	1 : 114440517 - 114440517 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	305	63
PPAP2B	8613	broad.mit.edu	37	1	56977739	56977739	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:56977739T>C	ENST00000371250.3	-	5	1270	c.719A>G	c.(718-720)tAc>tGc	p.Y240C	PPAP2B_ENST00000459962.1_5'UTR	NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	240					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CAGTCCCGTGTAGAAGGCCAT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	81	84			NA	NA	1		NA											NA				56977739		2203	4300	6503	SO:0001583	missense			AB000889	CCDS604.1	1p32.2	2009-05-27			ENSG00000162407	ENSG00000162407	8613	8613	3.1.3.4		9229	protein-coding gene	gene with protein product		607125			NA	9305923	Standard	NM_003713	NM_003713	NA	Approved	PAP-2b, LPP3	uc001cyj.2	O14495	OTTHUMG00000008160	ENST00000371250.3:c.719A>G	1.37:g.56977739T>C	ENSP00000360296:p.Tyr240Cys	NA	B2R651|D3DQ52|Q96GW0|Q99782	37	CCDS604.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.692869	0.88735	.	.	ENSG00000162407	ENST00000371250	T	0.74209	-0.82	6.04	6.04	0.98038	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.169906	0.52532	D	0.000069	D	0.86859	0.6034	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88431	0.3035	10	0.87932	D	0	.	15.7697	0.78157	0.0:0.0:0.0:1.0	.	240	O14495	LPP3_HUMAN	C	240	ENSP00000360296:Y240C	ENSP00000360296:Y240C	Y	-	2	0	PPAP2B	56750327	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	2.317000	0.78254	0.460000	0.39030	TAC	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022334.2		-	ENST00000371250.3	Missense_Mutation	SNP	1 : 56977739 - 56977739 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	302	30
LRIG2	9860	broad.mit.edu	37	1	113662141	113662141	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113662141C>T	ENST00000361127.5	+	17	3165	c.2967C>T	c.(2965-2967)agC>agT	p.S989S	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	NA						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CACAGATGAGCGGTGGTAAGG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	94	96			NA	NA	1		NA											NA				113662141		2203	4300	6503	SO:0001819	synonymous_variant			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799	9860	9860		Immunoglobulin superfamily / I-set domain containing	20889	protein-coding gene	gene with protein product		608869			NA		Standard	NM_014813	XM_005271369	NA	Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2967C>T	1.37:g.113662141C>T		NA	Q9NSN2	37	CCDS30808.1																																																																																			LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033549.2		+	ENST00000361127.5	Silent	SNP	1 : 113662141 - 113662141 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	209	26
ART4	420	broad.mit.edu	37	12	14995976	14995976	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:14995976G>A	ENST00000228936.4	-	1	453	c.72C>T	c.(70-72)atC>atT	p.I24I	C12orf60_ENST00000527783.1_Intron|RP11-233G1.4_ENST00000444324.2_RNA	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 (Dombrock blood group)	24					arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						CAAGGAGCCAGATTCTCATCG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	97	101			NA	NA	12		NA											NA				14995976		2203	4300	6503	SO:0001819	synonymous_variant			X95826	CCDS8668.1	12q13.2-q13.3	2014-07-18	2014-01-02	2006-01-12	ENSG00000111339	ENSG00000111339	420	420		CD molecules, Blood group antigens	726	protein-coding gene	gene with protein product		110600	Dombrock blood group, ADP-ribosyltransferase 4 (DO blood group), ADP-ribosyltransferase 4	DO	NA	9119374	Standard	NM_021071	NM_021071	NA	Approved	DOK1, CD297	uc001rcl.1	Q93070	OTTHUMG00000168738	ENST00000228936.4:c.72C>T	12.37:g.14995976G>A		NA	Q9BZ50|Q9BZ51|Q9HB06	37	CCDS8668.1																																																																																			ART4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400859.1		-	ENST00000228936.4	Silent	SNP	12 : 14995976 - 14995976 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	210	41
C19orf43	79002	broad.mit.edu	37	19	12842217	12842217	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12842217C>T	ENST00000592273.1	-	2	354				C19orf43_ENST00000242784.4_Missense_Mutation_p.G122R|C19orf43_ENST00000588213.1_Missense_Mutation_p.R114Q			Q9BQ61	CS043_HUMAN	chromosome 19 open reading frame 43	NA										endometrium(2)|large_intestine(2)	4						AGTTTGTTCCCGCCTCTGCGT	0.597		NA											C	1	5e-04	NA	NA	2184	0.0017	0.9998	,	,	NA	3e-04	NA	NA	NA	5e-04	0.7831	LOWCOV,EXOME	NA	NA	9e-04	SNP								NA				0													151	123	133			NA	NA	19		NA											NA				12842217		2203	4300	6503	SO:0001627	intron_variant			AK027588	CCDS12279.1	19p13.2	2011-11-24			ENSG00000123144	ENSG00000123144	79002	79002			28424	protein-coding gene	gene with protein product	functional spliceosome-associated protein 18				NA	12477932	Standard	NM_024038	NM_024038	NA	Approved	MGC2803, fSAP18	uc002muu.3	Q9BQ61		ENST00000592273.1:c.346-335G>A	19.37:g.12842217C>T		NA		37		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	27.1	4.799070	0.90538	.	.	ENSG00000123144	ENST00000242784	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.78591	0.4307	M	0.66297	2.02	0.37342	D	0.910419	D	0.89917	1.0	D	0.97110	1.0	T	0.82853	-0.0252	9	0.87932	D	0	-13.0597	18.0139	0.89232	0.0:1.0:0.0:0.0	.	122	Q9BQ61	CS043_HUMAN	R	122	.	ENSP00000242784:G122R	G	-	1	0	C19orf43	12703217	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.122000	0.77169	2.534000	0.85438	0.655000	0.94253	GGG	C19orf43-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000450855.1		-	ENST00000592273.1	Intron	SNP	19 : 12842217 - 12842217 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	351	67
CD1B	910	broad.mit.edu	37	1	158301164	158301164	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158301164T>C	ENST00000368168.3	-	1	157	c.50A>G	c.(49-51)aAc>aGc	p.N17S		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	17					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ATGTTCACTGTTACCACCAGG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	76	79			NA	NA	1		NA											NA				158301164		2203	4300	6503	SO:0001583	missense			M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485	910	910		CD molecules, Immunoglobulin superfamily / C1-set domain containing	1635	protein-coding gene	gene with protein product		188360	CD1B antigen, b polypeptide, CD1b antigen	CD1	NA	2447586	Standard	NM_001764	NM_001764	NA	Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.50A>G	1.37:g.158301164T>C	ENSP00000357150:p.Asn17Ser	NA	Q5TDK9|Q5TDL0|Q9UMM2	37	CCDS1176.1	.	.	.	.	.	.	.	.	.	.	T	5.734	0.319814	0.10845	.	.	ENSG00000158485	ENST00000368168	T	0.01252	5.1	3.14	1.98	0.26296	.	0.801389	0.10160	N	0.708393	T	0.00271	0.0008	N	0.02539	-0.55	0.09310	N	1	B;B	0.16802	0.019;0.002	B;B	0.24541	0.054;0.004	T	0.35525	-0.9785	10	0.24483	T	0.36	-7.4059	4.6335	0.12513	0.0:0.1632:0.0:0.8368	.	17;17	B4E0D2;P29016	.;CD1B_HUMAN	S	17	ENSP00000357150:N17S	ENSP00000357150:N17S	N	-	2	0	CD1B	156567788	0.001000	0.12720	0.002000	0.10522	0.009000	0.06853	0.552000	0.23376	0.569000	0.29329	0.528000	0.53228	AAC	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046350.2		-	ENST00000368168.3	Missense_Mutation	SNP	1 : 158301164 - 158301164 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	243	71
ZMYM2	7750	broad.mit.edu	37	13	20635250	20635250	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20635250G>A	ENST00000382874.2	+	18	2987	c.2797G>A	c.(2797-2799)Gca>Aca	p.A933T	ZMYM2_ENST00000382871.2_Missense_Mutation_p.A933T|ZMYM2_ENST00000382869.3_Missense_Mutation_p.A933T	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	933					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		GATTCCTGCAGCAATTGAGGA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	61	62			NA	NA	13		NA											NA				20635250		1898	4134	6032	SO:0001583	missense			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741	7750	7750		Zinc fingers, MYM type	12989	protein-coding gene	gene with protein product		602221	zinc finger protein 198	ZNF198	NA	9499416, 9425908	Standard	NM_003453	XM_005266517	NA	Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.2797G>A	13.37:g.20635250G>A	ENSP00000372327:p.Ala933Thr	NA	A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	37	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	G	3.331	-0.136700	0.06711	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382870	T	0.15718	2.4	5.54	2.83	0.33086	.	0.542317	0.22326	N	0.061523	T	0.08179	0.0204	N	0.16233	0.39	0.09310	N	0.999991	B	0.02656	0.0	B	0.04013	0.001	T	0.40869	-0.9540	10	0.02654	T	1	-1.6549	9.643	0.39850	0.0659:0.0:0.6795:0.2546	.	933	Q9UBW7	ZMYM2_HUMAN	T	933;933;931;931;311	ENSP00000372322:A933T	ENSP00000372322:A933T	A	+	1	0	ZMYM2	19533250	0.002000	0.14202	0.007000	0.13788	0.877000	0.50540	1.299000	0.33424	0.369000	0.24510	0.655000	0.94253	GCA	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044051.2		+	ENST00000382874.2	Missense_Mutation	SNP	13 : 20635250 - 20635250 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	91	20
GIT1	28964	broad.mit.edu	37	17	27910532	27910532	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27910532C>T	ENST00000225394.3	-	2	403	c.155G>A	c.(154-156)cGc>cAc	p.R52H	GIT1_ENST00000394869.3_Missense_Mutation_p.R52H|GIT1_ENST00000579937.1_Missense_Mutation_p.R52H|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000581348.1_Missense_Mutation_p.R52H	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	52	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		GGCGCTGTGGCGAAGGTGCTT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(81;41 1719 20078 35068)							NA				0								C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	91	63	72		155,155	4.8	1	17		72	1,8597	1.2+/-3.3	0,1,4298	yes	missense,missense	GIT1	NM_001085454.1,NM_014030.3	29,29	0,1,6501	TT,TC,CC	NA	0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	52/771,52/762	27910532	1,13003	2203	4299	6502	SO:0001583	missense			AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262	28964	28964		ADP-ribosylation factor GTPase activating proteins, Ankyrin repeat domain containing	4272	protein-coding gene	gene with protein product		608434	G protein-coupled receptor kinase interactor 1		NA	9826657, 10896954	Standard	NM_014030	NM_014030	NA	Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.155G>A	17.37:g.27910532C>T	ENSP00000225394:p.Arg52His	NA	B4DSV3|Q86SS0|Q9BRJ4	37	CCDS11250.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.886017	0.72410	0.0	1.16E-4	ENSG00000108262	ENST00000225394;ENST00000394869;ENST00000335356	T;T	0.68479	-0.33;-0.33	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.48660	0.1512	N	0.16201	0.385	0.80722	D	1	P;B;P;B	0.34662	0.462;0.407;0.462;0.068	B;B;B;B	0.29785	0.107;0.062;0.103;0.041	T	0.48317	-0.9046	10	0.25751	T	0.34	.	17.2819	0.87131	0.0:1.0:0.0:0.0	.	56;52;52;52	Q59FC3;Q9Y2X7-3;B4DGU9;Q9Y2X7	.;.;.;GIT1_HUMAN	H	52	ENSP00000225394:R52H;ENSP00000378338:R52H	ENSP00000225394:R52H	R	-	2	0	GIT1	24934658	0.978000	0.34361	1.000000	0.80357	0.992000	0.81027	2.532000	0.45659	2.688000	0.91661	0.655000	0.94253	CGC	GIT1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256073.1		-	ENST00000225394.3	Missense_Mutation	SNP	17 : 27910532 - 27910532 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	196	35
C8orf46	254778	broad.mit.edu	37	8	67405895	67405895	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67405895G>T	ENST00000522977.1	+	1	55	c.12G>T	c.(10-12)caG>caT	p.Q4H	C8orf46_ENST00000482608.2_Intron|C8orf46_ENST00000480005.1_Missense_Mutation_p.Q4H|C8orf46_ENST00000521495.1_Missense_Mutation_p.Q4H|C8orf46_ENST00000305454.3_Missense_Mutation_p.Q4H			Q8TAG6	CH046_HUMAN	chromosome 8 open reading frame 46	4										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TGATGCATCAGATTTACAGCT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	93	99			NA	NA	8		NA											NA				67405895		2203	4300	6503	SO:0001583	missense			BC028400	CCDS6191.2	8q13.1	2005-08-09			ENSG00000169085	ENSG00000169085	254778	254778			28498	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152765	NM_152765	NA	Approved	MGC33510	uc003xwg.3	Q8TAG6	OTTHUMG00000156998	ENST00000522977.1:c.12G>T	8.37:g.67405895G>T	ENSP00000430141:p.Gln4His	NA	B2RDC3|B4DFU4|C9J814|C9JCS3	37		.	.	.	.	.	.	.	.	.	.	G	23.6	4.434499	0.83776	.	.	ENSG00000169085	ENST00000305454;ENST00000521495;ENST00000522977;ENST00000480005	.	.	.	5.98	5.98	0.97165	.	0.087235	0.50627	D	0.000108	T	0.68805	0.3041	L	0.36672	1.1	0.49051	D	0.999742	D;D	0.89917	1.0;0.999	D;D	0.69479	0.964;0.964	T	0.69555	-0.5114	9	0.72032	D	0.01	-10.6183	18.6387	0.91387	0.0:0.0:1.0:0.0	.	4;4	Q8TAG6-2;Q8TAG6	.;CH046_HUMAN	H	4	.	ENSP00000302260:Q4H	Q	+	3	2	C8orf46	67568449	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.740000	0.47418	2.835000	0.97688	0.650000	0.86243	CAG	C8orf46-014	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000379220.2		+	ENST00000522977.1	Missense_Mutation	SNP	8 : 67405895 - 67405895 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	390	69
DMXL1	1657	broad.mit.edu	37	5	118580057	118580057	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118580057T>G	ENST00000311085.8	+	42	8725	c.8645T>G	c.(8644-8646)tTt>tGt	p.F2882C	DMXL1_ENST00000539542.1_Missense_Mutation_p.F2903C|DMXL1_ENST00000505312.1_3'UTR	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2882										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CTTTCAGCATTTACCTGCCAT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	52	53			NA	NA	5		NA											NA				118580057		2201	4300	6501	SO:0001583	missense			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869	1657	1657		WD repeat domain containing	2937	protein-coding gene	gene with protein product		605671			NA	10708522	Standard	NM_005509	NM_005509	NA	Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.8645T>G	5.37:g.118580057T>G	ENSP00000309690:p.Phe2882Cys	NA		37	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	T	18.96	3.733111	0.69189	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.01484	4.84;4.84	5.4	5.4	0.78164	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.102806	0.64402	D	0.000002	T	0.10465	0.0256	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71656	0.972;0.974	T	0.00364	-1.1787	10	0.87932	D	0	-22.8947	15.4002	0.74834	0.0:0.0:0.0:1.0	.	2903;2882	F5H269;Q9Y485	.;DMXL1_HUMAN	C	2882;2903	ENSP00000309690:F2882C;ENSP00000439479:F2903C	ENSP00000309690:F2882C	F	+	2	0	DMXL1	118607956	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	7.621000	0.83083	2.037000	0.60232	0.477000	0.44152	TTT	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250862.1		+	ENST00000311085.8	Missense_Mutation	SNP	5 : 118580057 - 118580057 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	154	27
CDHR2	54825	broad.mit.edu	37	5	176005098	176005098	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176005098T>C	ENST00000510636.1	+	15	1848		c.e15+2		CDHR2_ENST00000261944.5_Splice_Site|CDHR2_ENST00000506348.1_Splice_Site	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	NA					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						AGGAAATGGGTAAGGGCTCAG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	36	35			NA	NA	5		NA											NA				176005098		2203	4300	6503	SO:0001630	splice_region_variant			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276	54825	54825		Cadherins / Cadherin-related	18231	protein-coding gene	gene with protein product	protocadherin LKC		protocadherin 24	PCDH24	NA	11082270, 12117771	Standard	NM_017675	NM_001171976	NA	Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1574+2T>C	5.37:g.176005098T>C		NA	A6NC80|Q9NXP8	37	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	T	19.73	3.881532	0.72294	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9111	0.58181	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDHR2	175937704	1.000000	0.71417	0.985000	0.45067	0.849000	0.48306	5.592000	0.67543	1.993000	0.58246	0.448000	0.29417	.	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372201.1	Intron	+	ENST00000510636.1	Splice_Site	SNP	5 : 176005098 - 176005098 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	170	41
TRPM6	140803	broad.mit.edu	37	9	77416926	77416926	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77416926C>T	ENST00000360774.1	-	16	2134	c.1897G>A	c.(1897-1899)Gag>Aag	p.E633K	TRPM6_ENST00000451710.3_Missense_Mutation_p.E633K|TRPM6_ENST00000361255.3_Missense_Mutation_p.E628K|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.E628K|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.E633K	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	633					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ACCGTGGCCTCCTCTCCATGC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	117	126			NA	NA	9		NA											NA				77416926		2203	4300	6503	SO:0001583	missense			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121	140803	140803		Voltage-gated ion channels / Transient receptor potential cation channels	17995	protein-coding gene	gene with protein product		607009	hypomagnesemia, secondary hypocalcemia	HOMG, HSH	NA	10021370, 12032570, 16382100	Standard	NM_017662	NM_017662	NA	Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1897G>A	9.37:g.77416926C>T	ENSP00000354006:p.Glu633Lys	NA	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	35	5.456860	0.96223	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91	5.28	5.28	0.74379	.	0.046451	0.85682	D	0.000000	D	0.89339	0.6687	M	0.90977	3.165	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.75020	0.985;0.983;0.982	D	0.91646	0.5331	10	0.87932	D	0	.	18.9117	0.92489	0.0:1.0:0.0:0.0	.	296;633;628	F5H7D1;Q9BX84;Q9BX84-3	.;TRPM6_HUMAN;.	K	633;633;628;628;633;296;296	ENSP00000354006:E633K;ENSP00000407341:E633K;ENSP00000396672:E628K;ENSP00000354962:E628K;ENSP00000366060:E633K	ENSP00000309693:E296K	E	-	1	0	TRPM6	76606746	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.963000	0.70372	2.462000	0.83206	0.585000	0.79938	GAG	TRPM6-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052693.1		-	ENST00000360774.1	Missense_Mutation	SNP	9 : 77416926 - 77416926 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	52
KIAA1919	91749	broad.mit.edu	37	6	111583508	111583508	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111583508A>C	ENST00000368847.4	+	2	429	c.76A>C	c.(76-78)Aac>Cac	p.N26H		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	26					carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		TTTGGCAACAAACGTGAACCG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													291	272	278			NA	NA	6		NA											NA				111583508		2203	4300	6503	SO:0001583	missense			BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214	91749	91749			21053	protein-coding gene	gene with protein product					NA		Standard	NM_153369	NM_153369	NA	Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.76A>C	6.37:g.111583508A>C	ENSP00000357840:p.Asn26His	NA	A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	37	CCDS5090.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.728643	0.89390	.	.	ENSG00000173214	ENST00000368847	T	0.57907	0.37	5.84	5.84	0.93424	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.61035	0.2315	M	0.68952	2.095	0.53005	D	0.999962	P	0.46784	0.884	P	0.59424	0.857	T	0.62096	-0.6926	10	0.46703	T	0.11	-24.5747	15.8764	0.79166	1.0:0.0:0.0:0.0	.	26	Q5TF39	NAGT1_HUMAN	H	26	ENSP00000357840:N26H	ENSP00000357840:N26H	N	+	1	0	KIAA1919	111690201	1.000000	0.71417	0.800000	0.32199	0.934000	0.57294	8.088000	0.89523	2.234000	0.73211	0.459000	0.35465	AAC	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041827.1		+	ENST00000368847.4	Missense_Mutation	SNP	6 : 111583508 - 111583508 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	926	176
AKAP11	11215	broad.mit.edu	37	13	42877029	42877029	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:42877029G>A	ENST00000025301.2	+	8	4322	c.4147G>A	c.(4147-4149)Gca>Aca	p.A1383T		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1383					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		ATTACAGGAAGCAGCTAAGAC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	70	71			NA	NA	13		NA											NA				42877029		2203	4300	6503	SO:0001583	missense			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516	11215	11215		A-kinase anchor proteins, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	369	protein-coding gene	gene with protein product	AKAP 220, A-kinase anchoring protein, 220kDa, protein kinase A anchoring protein 11, protein phosphatase 1, regulatory subunit 44	604696			NA	9734811, 8621616	Standard	NM_016248	NM_016248	NA	Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.4147G>A	13.37:g.42877029G>A	ENSP00000025301:p.Ala1383Thr	NA	O75124|Q9NUK7	37	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989871	0.93106	.	.	ENSG00000023516	ENST00000025301	T	0.60920	0.15	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.77751	0.4177	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77281	-0.2646	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	1383	Q9UKA4	AKA11_HUMAN	T	1383	ENSP00000025301:A1383T	ENSP00000025301:A1383T	A	+	1	0	AKAP11	41775029	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.368000	0.97152	2.937000	0.99478	0.650000	0.86243	GCA	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044700.2		+	ENST00000025301.2	Missense_Mutation	SNP	13 : 42877029 - 42877029 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	302	10
KIAA1244	57221	broad.mit.edu	37	6	138655861	138655861	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138655861A>G	ENST00000251691.4	+	33	6044	c.5878A>G	c.(5878-5880)Acc>Gcc	p.T1960A		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1960					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TGGGAAAGAAACCCCTTCCGA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	20	20			NA	NA	6		NA											NA				138655861		2203	4300	6503	SO:0001583	missense			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379	57221	57221		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	21213	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 33		chromosome 6 open reading frame 92	C6orf92	NA		Standard	NM_020340	NM_020340	NA	Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.5878A>G	6.37:g.138655861A>G	ENSP00000251691:p.Thr1960Ala	NA	Q76MU8|Q8N4Y4|Q96CH9|Q96P46|Q9ULH6	37	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	A	17.04	3.286561	0.59867	.	.	ENSG00000112379	ENST00000251691;ENST00000367706	T	0.22134	1.97	5.87	5.87	0.94306	.	1.991490	0.01726	N	0.028617	T	0.13841	0.0335	L	0.34521	1.04	0.80722	D	1	P	0.51351	0.944	B	0.43950	0.437	T	0.18085	-1.0348	10	0.25106	T	0.35	-33.4121	16.2646	0.82568	1.0:0.0:0.0:0.0	.	1960	Q5TH69	BIG3_HUMAN	A	1960;125	ENSP00000251691:T1960A	ENSP00000251691:T1960A	T	+	1	0	KIAA1244	138697554	1.000000	0.71417	0.121000	0.21740	0.182000	0.23217	9.092000	0.94157	2.243000	0.73865	0.443000	0.29094	ACC	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042425.4		+	ENST00000251691.4	Missense_Mutation	SNP	6 : 138655861 - 138655861 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	196	38
RNF219	79596	broad.mit.edu	37	13	79190301	79190301	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:79190301G>T	ENST00000282003.6	-	6	1653	c.1595C>A	c.(1594-1596)gCt>gAt	p.A532D	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	532	Ser-rich.						zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		AAGGTAAGCAGCATCCATCGA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	131	130			NA	NA	13		NA											NA				79190301		2203	4300	6503	SO:0001583	missense			BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193	79596	79596		RING-type (C3HC4) zinc fingers	20308	protein-coding gene	gene with protein product		615906	chromosome 13 open reading frame 7	C13orf7	NA		Standard	NM_024546	XM_006719865	NA	Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.1595C>A	13.37:g.79190301G>T	ENSP00000282003:p.Ala532Asp	NA	B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	37	CCDS31997.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016137	0.75161	.	.	ENSG00000152193	ENST00000282003	T	0.14516	2.5	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000003	T	0.37210	0.0995	L	0.56769	1.78	0.53688	D	0.999979	D	0.89917	1.0	D	0.74023	0.982	T	0.01925	-1.1246	10	0.87932	D	0	-8.9543	20.2019	0.98263	0.0:0.0:1.0:0.0	.	532	Q5W0B1	RN219_HUMAN	D	532	ENSP00000282003:A532D	ENSP00000282003:A532D	A	-	2	0	RNF219	78088302	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.934000	0.70138	2.776000	0.95493	0.655000	0.94253	GCT	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045363.1		-	ENST00000282003.6	Missense_Mutation	SNP	13 : 79190301 - 79190301 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	726	96
LRP1	4035	broad.mit.edu	37	12	57539109	57539109	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57539109G>T	ENST00000553277.1	+	6	1149	c.677G>T	c.(676-678)aGc>aTc	p.S226I	LRP1_ENST00000554174.1_Missense_Mutation_p.S226I|LRP1_ENST00000243077.3_Missense_Mutation_p.S226I|RP11-545N8.3_ENST00000555461.1_RNA|LRP1_ENST00000338962.4_Missense_Mutation_p.S226I			Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	226					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACACCTACGAGCACGCGGCAG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	66	82			NA	NA	12		NA											NA				57539109		2203	4300	6503	SO:0001583	missense			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384	4035	4035		CD molecules, Low density lipoprotein receptors	6692	protein-coding gene	gene with protein product		107770	alpha-2-macroglobulin receptor	APR, A2MR	NA	2548950	Standard	NM_002332	NM_002332	NA	Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000553277.1:c.677G>T	12.37:g.57539109G>T	ENSP00000451449:p.Ser226Ile	NA	Q2PP12|Q8IVG8	37		.	.	.	.	.	.	.	.	.	.	G	14.06	2.421785	0.43020	.	.	ENSG00000123384	ENST00000553277;ENST00000243077;ENST00000338962;ENST00000554174	D;D;D;D	0.91124	-2.65;-2.79;-2.6;-2.79	5.08	5.08	0.68730	Six-bladed beta-propeller, TolB-like (1);	0.130255	0.48286	D	0.000194	D	0.88043	0.6331	M	0.62723	1.935	0.37173	D	0.903141	B;B;B;P	0.45902	0.244;0.244;0.411;0.868	B;B;B;B	0.36666	0.075;0.079;0.097;0.23	D	0.90319	0.4343	10	0.42905	T	0.14	.	16.3808	0.83460	0.0:0.0:1.0:0.0	.	226;226;226;226	Q86SW0;Q07954;Q6PJ72;Q7Z7K9	.;LRP1_HUMAN;.;.	I	226	ENSP00000451449:S226I;ENSP00000243077:S226I;ENSP00000341264:S226I;ENSP00000451737:S226I	ENSP00000243077:S226I	S	+	2	0	LRP1	55825376	1.000000	0.71417	0.999000	0.59377	0.667000	0.39255	3.498000	0.53302	2.826000	0.97356	0.655000	0.94253	AGC	LRP1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000412771.1		+	ENST00000553277.1	Missense_Mutation	SNP	12 : 57539109 - 57539109 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	224	33
UNC5D	137970	broad.mit.edu	37	8	35406991	35406991	+	Silent	SNP	C	C	T	rs77010935	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:35406991C>T	ENST00000287272.2	+	2	305	c.285C>T	c.(283-285)aaC>aaT	p.N95N	UNC5D_ENST00000453357.2_Silent_p.N90N|UNC5D_ENST00000420357.1_Silent_p.N95N|UNC5D_ENST00000416672.1_Silent_p.N95N|UNC5D_ENST00000404895.2_Silent_p.N95N			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	95	Ig-like.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCCATCAGAACGAGCACGTCT	0.502		NA											C	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0								C		5,4401	9.9+/-24.2	0,5,2198	52	47	48		285	0.6	1	8	dbSNP_132	48	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	UNC5D	NM_080872.2		0,14,6489	TT,TC,CC	NA	0.1047,0.1135,0.1076		95/954	35406991	14,12992	2203	4300	6503	SO:0001819	synonymous_variant			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687	137970	137970		Immunoglobulin superfamily / I-set domain containing	18634	protein-coding gene	gene with protein product					NA	18402767	Standard		NM_080872	NA	Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000287272.2:c.285C>T	8.37:g.35406991C>T		NA	Q8WYP7	37																																																																																				UNC5D-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000347597.1		+	ENST00000287272.2	Silent	SNP	8 : 35406991 - 35406991 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	164	20
PTPRC	5788	broad.mit.edu	37	1	198718653	198718653	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:198718653A>C	ENST00000442510.2	+	28	3188	c.3047A>C	c.(3046-3048)aAa>aCa	p.K1016T	PTPRC_ENST00000367376.2_Missense_Mutation_p.K1014T|PTPRC_ENST00000594404.1_Missense_Mutation_p.K853T|PTPRC_ENST00000348564.6_Missense_Mutation_p.K855T|PTPRC_ENST00000352140.3_Missense_Mutation_p.K966T			P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1014	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GAACCAAGCAAATACATCAAT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	89	91			NA	NA	1		NA											NA				198718653		2203	4300	6503	SO:0001583	missense			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237	5788	5788		CD molecules, Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing	9666	protein-coding gene	gene with protein product		151460		CD45	NA	2169617	Standard		NM_001267798	NA	Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000442510.2:c.3047A>C	1.37:g.198718653A>C	ENSP00000411355:p.Lys1016Thr	NA	A8K7W6|Q16614|Q9H0Y6	37	CCDS1397.2	.	.	.	.	.	.	.	.	.	.	A	18.28	3.588355	0.66105	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	T	0.13307	2.6	5.82	2.25	0.28309	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.125027	0.35936	N	0.002887	T	0.17874	0.0429	N	0.17901	0.54	0.44295	D	0.997169	D;D;D	0.57899	0.981;0.981;0.961	P;P;P	0.62740	0.906;0.906;0.875	T	0.01212	-1.1417	10	0.62326	D	0.03	.	9.6267	0.39754	0.7274:0.0:0.2726:0.0	.	855;966;1014	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	T	1016;966;1014;853	ENSP00000193532:K966T	ENSP00000306782:K853T	K	+	2	0	PTPRC	196985276	0.958000	0.32768	0.969000	0.41365	0.763000	0.43281	0.284000	0.18864	0.131000	0.18576	0.528000	0.53228	AAA	PTPRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086814.4		+	ENST00000442510.2	Missense_Mutation	SNP	1 : 198718653 - 198718653 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	277	56
ILF2	3608	broad.mit.edu	37	1	153642341	153642341	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153642341C>T	ENST00000361891.4	-	3	204	c.79G>A	c.(79-81)Gta>Ata	p.V27I	ILF2_ENST00000368681.1_Missense_Mutation_p.V27I	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	27					immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATATGTGGTACAAAGGGCCTG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	125	129			NA	NA	1		NA											NA				153642341		2203	4300	6503	SO:0001583	missense			U10323	CCDS1050.1, CCDS72919.1	1q21.3	2012-12-04	2012-12-04		ENSG00000143621	ENSG00000143621	3608	3608			6037	protein-coding gene	gene with protein product		603181	interleukin enhancer binding factor 2, 45kD, interleukin enhancer binding factor 2, 45kDa		NA	7519613	Standard	NM_004515	NM_004515	NA	Approved	NF45	uc001fcr.4	Q12905	OTTHUMG00000037087	ENST00000361891.4:c.79G>A	1.37:g.153642341C>T	ENSP00000355011:p.Val27Ile	NA	A6NDB0|B2R8G7|Q5SR10|Q5SR11|Q7L7R3|Q9BWD4|Q9P1N0	37	CCDS1050.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945391	0.53079	.	.	ENSG00000143621	ENST00000361891;ENST00000368681	T	0.45276	0.9	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.16685	0.0401	N	0.25332	0.735	0.80722	D	1	B;B	0.33748	0.423;0.298	B;B	0.35859	0.212;0.105	T	0.04915	-1.0918	10	0.24483	T	0.36	-3.085	11.8081	0.52167	0.0:1.0:0.0:0.0	.	27;27	F4ZW62;Q12905	.;ILF2_HUMAN	I	27	ENSP00000355011:V27I	ENSP00000355011:V27I	V	-	1	0	ILF2	151908965	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.031000	0.70911	2.163000	0.67991	0.561000	0.74099	GTA	ILF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090040.1		-	ENST00000361891.4	Missense_Mutation	SNP	1 : 153642341 - 153642341 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	452	71
FGG	2266	broad.mit.edu	37	4	155526150	155526150	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155526150T>G	ENST00000404648.3	-	9	1437	c.1198A>C	c.(1198-1200)Acc>Ccc	p.T400P	FGG_ENST00000405164.1_Missense_Mutation_p.T408P|FGG_ENST00000407946.1_Missense_Mutation_p.T408P|FGG_ENST00000336098.3_Missense_Mutation_p.T400P	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	400	Fibrinogen C-terminal.|Gamma-chain polymerization, binding amino end of another fibrin alpha chain.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TACCACCGGGTTTTCCAAGTG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	138	141			NA	NA	4		NA											NA				155526150		2203	4300	6503	SO:0001583	missense				CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557	2266	2266		Fibrinogen C domain containing, Endogenous ligands	3694	protein-coding gene	gene with protein product		134850	fibrinogen, gamma polypeptide		NA		Standard	NM_021870	NM_000509	NA	Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000404648.3:c.1198A>C	4.37:g.155526150T>G	ENSP00000384860:p.Thr400Pro	NA	A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	37	CCDS47153.1	.	.	.	.	.	.	.	.	.	.	T	13.19	2.161777	0.38217	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	6.08	-1.2	0.09554	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.788626	0.12680	N	0.448038	T	0.63034	0.2477	N	0.20483	0.58	0.09310	N	1	B;B;B;B;B	0.21381	0.01;0.003;0.055;0.002;0.044	B;B;B;B;B	0.30572	0.074;0.064;0.117;0.006;0.044	T	0.56038	-0.8045	10	0.72032	D	0.01	.	7.9052	0.29757	0.2906:0.2134:0.0:0.4961	.	297;408;400;408;400	D3DP16;C9JC84;P02679;C9JEU5;P02679-2	.;.;FIBG_HUMAN;.;.	P	400;408;400;408	ENSP00000384860:T400P;ENSP00000384101:T408P;ENSP00000336829:T400P;ENSP00000384552:T408P	ENSP00000336829:T400P	T	-	1	0	FGG	155745600	0.996000	0.38824	0.787000	0.31911	0.983000	0.72400	0.610000	0.24253	-0.372000	0.07992	-0.360000	0.07572	ACC	FGG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317580.1		-	ENST00000404648.3	Missense_Mutation	SNP	4 : 155526150 - 155526150 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	645	120
FRK	2444	broad.mit.edu	37	6	116381319	116381319	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116381319A>G	ENST00000606080.1	-	1	602	c.156T>C	c.(154-156)gaT>gaC	p.D52D		NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	52	SH3.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		GAGCCTGGTAATCAAACAAAG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	104	103			NA	NA	6		NA											NA				116381319		2203	4300	6503	SO:0001819	synonymous_variant			U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2444	2444	2.7.10.1	SH2 domain containing	3955	protein-coding gene	gene with protein product		606573	PTK5 protein tyrosine kinase 5, fyn-related kinase	PTK5	NA	7510261	Standard	NM_002031	NM_002031	NA	Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.156T>C	6.37:g.116381319A>G		NA	Q13128|Q9NTR5	37	CCDS5103.1																																																																																			FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041924.2		-	ENST00000606080.1	Silent	SNP	6 : 116381319 - 116381319 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	590	95
MMP10	4319	broad.mit.edu	37	11	102647433	102647433	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102647433C>A	ENST00000279441.4	-	5	733	c.697G>T	c.(697-699)Gct>Tct	p.A233S		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	233					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		TACATCAAAGCTTCAGTGTTG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	127	130			NA	NA	11		NA											NA				102647433		2203	4299	6502	SO:0001583	missense			X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	4319	4319	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	matrix metalloproteinase 10 (stromelysin 2)	STMY2	NA		Standard		NM_002425	NA	Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.697G>T	11.37:g.102647433C>A	ENSP00000279441:p.Ala233Ser	NA	B2R9X9|Q53HH9	37	CCDS8321.1	.	.	.	.	.	.	.	.	.	.	c	19.51	3.841626	0.71488	.	.	ENSG00000166670	ENST00000279441	T	0.11930	2.73	4.31	2.35	0.29111	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.283692	0.26627	N	0.023340	T	0.17874	0.0429	L	0.37507	1.11	0.48288	D	0.999629	B	0.33280	0.405	P	0.47827	0.558	T	0.05321	-1.0892	10	0.48119	T	0.1	.	8.7369	0.34534	0.1544:0.7654:0.0:0.0802	.	233	P09238	MMP10_HUMAN	S	233	ENSP00000279441:A233S	ENSP00000279441:A233S	A	-	1	0	MMP10	102152643	0.661000	0.27430	0.002000	0.10522	0.004000	0.04260	1.335000	0.33839	0.493000	0.27837	0.655000	0.94253	GCT	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398014.1		-	ENST00000279441.4	Missense_Mutation	SNP	11 : 102647433 - 102647433 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	538	84
DYRK4	8798	broad.mit.edu	37	12	4708305	4708305	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4708305G>T	ENST00000540757.2	+	7	832	c.672G>T	c.(670-672)gaG>gaT	p.E224D	DYRK4_ENST00000010132.5_Missense_Mutation_p.E224D|DYRK4_ENST00000543431.1_Missense_Mutation_p.E224D	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	224	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			TTTCGGTAGAGAAAATCATTC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	120	124			NA	NA	12		NA											NA				4708305		2203	4300	6503	SO:0001583	missense			Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219	8798	8798			3095	protein-coding gene	gene with protein product		609181			NA	9748265	Standard		NM_003845	NA	Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.672G>T	12.37:g.4708305G>T	ENSP00000441755:p.Glu224Asp	NA	Q8NEF2|Q92631	37	CCDS8530.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458111	0.63401	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.29	5.29	0.74685	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76111	0.3942	M	0.66939	2.045	0.80722	D	1	D;P;P	0.63880	0.993;0.93;0.888	D;P;P	0.63488	0.915;0.646;0.661	T	0.76806	-0.2823	10	0.51188	T	0.08	.	9.6876	0.40109	0.1571:0.0:0.8429:0.0	.	339;224;224	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	D	339;224;224;224	ENSP00000437534:E339D;ENSP00000441755:E224D;ENSP00000010132:E224D;ENSP00000439697:E224D	ENSP00000010132:E224D	E	+	3	2	DYRK4	4578566	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	1.103000	0.31062	2.467000	0.83353	0.555000	0.69702	GAG	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398780.2		+	ENST00000540757.2	Missense_Mutation	SNP	12 : 4708305 - 4708305 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	476	86
C1QTNF9B	387911	broad.mit.edu	37	13	24471132	24471132	+	Translation_Start_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24471132G>T	ENST00000382140.2	-	0	54				C1QTNF9B_ENST00000382057.3_De_novo_Start_OutOfFrame|C1QTNF9B_ENST00000382145.1_De_novo_Start_OutOfFrame|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B_ENST00000382137.3_De_novo_Start_OutOfFrame			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	NA						collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						TCATGGTTCAGATGACAGACT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	93	96			NA	NA	13		NA											NA				24471132		2203	4300	6503					BC110413	CCDS31947.1	13q12.12	2011-05-08			ENSG00000205863	ENSG00000205863	387911	387911			34072	protein-coding gene	gene with protein product		614148			NA	17544811	Standard	NM_001007537	NM_001007537	NA	Approved	CTRP9B	uc010tcv.1	B2RNN3	OTTHUMG00000016570	ENST00000382140.2:c.-7C>A	13.37:g.24471132G>T		NA	A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	37	CCDS31947.1																																																																																			C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044162.3		-	ENST00000382140.2	De_novo_Start_OutOfFrame	SNP	13 : 24471132 - 24471132 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	13
MS4A7	58475	broad.mit.edu	37	11	60150639	60150639	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60150639G>A	ENST00000530234.2	+	2	164	c.25G>A	c.(25-27)Ggg>Agg	p.G9R	MS4A7_ENST00000358246.1_Missense_Mutation_p.G9R|MS4A7_ENST00000534016.1_Missense_Mutation_p.G9R|MS4A7_ENST00000300184.3_Missense_Mutation_p.G9R|MS4A14_ENST00000531787.1_Intron			Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	9						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						CCAAACCATGGGGGTTTCTCA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	106	110			NA	NA	11		NA											NA				60150639		2203	4300	6503	SO:0001583	missense			AB026043	CCDS7985.1, CCDS7986.1	11q12	2008-03-25				ENSG00000166927	58475	58475			13378	protein-coding gene	gene with protein product		606502			NA	11245982, 11401424	Standard		NM_021201	NA	Approved	CD20L4, CFFM4, MS4A8	uc001npf.3	Q9GZW8		ENST00000530234.2:c.25G>A	11.37:g.60150639G>A	ENSP00000433184:p.Gly9Arg	NA	Q6IAG8	37		.	.	.	.	.	.	.	.	.	.	G	7.112	0.576130	0.13623	.	.	ENSG00000166927	ENST00000300184;ENST00000358246;ENST00000534016;ENST00000530614;ENST00000530027;ENST00000530234	T;T;T;T;T;T	0.53857	3.01;2.23;2.23;2.17;2.49;0.6	3.8	-2.88	0.05682	.	3.885760	0.00659	N	0.000595	T	0.28001	0.0690	N	0.10809	0.05	0.09310	N	1	B;B;B	0.10296	0.001;0.003;0.003	B;B;B	0.09377	0.002;0.004;0.004	T	0.04165	-1.0972	10	0.23891	T	0.37	-24.2312	1.0142	0.01504	0.4079:0.1555:0.2782:0.1584	.	9;9;9	E9PIV6;Q9GZW8-2;Q9GZW8	.;.;MS4A7_HUMAN	R	9	ENSP00000300184:G9R;ENSP00000350983:G9R;ENSP00000434637:G9R;ENSP00000433861:G9R;ENSP00000434819:G9R;ENSP00000433184:G9R	ENSP00000300184:G9R	G	+	1	0	MS4A7	59907215	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.069000	0.14552	-0.629000	0.05575	-0.137000	0.14449	GGG	MS4A7-010	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000395378.2		+	ENST00000530234.2	Missense_Mutation	SNP	11 : 60150639 - 60150639 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	451	92
CACNB2	783	broad.mit.edu	37	10	18828262	18828262	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18828262G>A	ENST00000396576.2	+	13	1928	c.1427G>A	c.(1426-1428)cGc>cAc	p.R476H	CACNB2_ENST00000377331.2_Missense_Mutation_p.R479H|CACNB2_ENST00000377329.4_Missense_Mutation_p.R477H|CACNB2_ENST00000377319.3_Missense_Mutation_p.R438H|CACNB2_ENST00000282343.8_Missense_Mutation_p.R503H|CACNB2_ENST00000352115.6_Missense_Mutation_p.R507H|CACNB2_ENST00000377315.4_Missense_Mutation_p.R483H|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000324631.7_Missense_Mutation_p.R531H|CACNB2_ENST00000377328.1_Missense_Mutation_p.R281H	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	531					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.R507H(1)|p.R476H(1)|p.R477H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCCCAGCACCGCTCTTCCTCC	0.557		NA											G	1	5e-04	NA	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	8e-04	SNP								NA				3	Substitution - Missense(3)	lung(3)											91	85	87			NA	NA	10		NA											NA				18828262		2203	4300	6503	SO:0001583	missense			U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995	783	783		Calcium channel subunits	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2	NA	9254841, 8494331	Standard	NM_000724	NM_201596	NA	Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000396576.2:c.1427G>A	10.37:g.18828262G>A	ENSP00000379821:p.Arg476His	NA	A6PVM5|A6PVM8|O00304|Q5VVG9|Q5VVH0|Q5VWV6|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	37	CCDS7128.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	16.43	3.119971	0.56613	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;T;D;D;T;D;D;D;D	0.83914	-1.73;1.83;-1.78;-1.73;1.83;-1.73;-1.73;-1.72;-1.73	5.84	5.84	0.93424	.	0.547984	0.18806	N	0.130660	D	0.85120	0.5624	N	0.14661	0.345	0.58432	D	0.999992	D;D;D;D;B;D;D;D;D;D;D;D;D	0.89917	0.971;1.0;1.0;0.992;0.091;0.995;0.981;0.999;1.0;1.0;0.983;1.0;1.0	P;D;D;P;B;P;B;P;D;D;P;D;D	0.74674	0.474;0.964;0.955;0.584;0.016;0.763;0.443;0.891;0.935;0.984;0.674;0.984;0.964	D	0.85703	0.1314	10	0.45353	T	0.12	-10.7463	20.1511	0.98086	0.0:0.0:1.0:0.0	.	445;503;281;483;453;477;487;438;479;503;493;507;531	B7Z1U5;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	H	531;507;281;503;479;476;438;477;483	ENSP00000320025:R531H;ENSP00000344474:R507H;ENSP00000366545:R281H;ENSP00000282343:R503H;ENSP00000366548:R479H;ENSP00000379821:R476H;ENSP00000366536:R438H;ENSP00000366546:R477H;ENSP00000366532:R483H	ENSP00000282343:R503H	R	+	2	0	CACNB2	18868268	1.000000	0.71417	0.826000	0.32828	0.985000	0.73830	8.500000	0.90498	2.778000	0.95560	0.655000	0.94253	CGC	CACNB2-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047074.2		+	ENST00000396576.2	Missense_Mutation	SNP	10 : 18828262 - 18828262 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	346	58
FCGBP	8857	broad.mit.edu	37	19	40384075	40384075	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40384075C>T	ENST00000221347.6	-	21	9542	c.9535G>A	c.(9535-9537)Gta>Ata	p.V3179I		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3179	TIL 7.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCCTCACATACGGCTGGCGTC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395	8857	8857			13572	protein-coding gene	gene with protein product	IgG Fc binding protein, Human Fc gamma BP				NA	9182547	Standard	NM_003890	NM_003890	NA	Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.9535G>A	19.37:g.40384075C>T	ENSP00000221347:p.Val3179Ile	NA	O95784	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	9.521	1.108219	0.20714	.	.	ENSG00000090920	ENST00000221347	T	0.78003	-1.14	3.01	-2.27	0.06846	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	.	.	.	.	T	0.66790	0.2825	N	0.21583	0.68	0.09310	N	1	P	0.47910	0.902	P	0.49361	0.608	T	0.59295	-0.7481	9	0.22706	T	0.39	.	8.5511	0.33451	0.0:0.5821:0.2724:0.1455	.	3179	Q9Y6R7	FCGBP_HUMAN	I	3179	ENSP00000221347:V3179I	ENSP00000221347:V3179I	V	-	1	0	FCGBP	45075915	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.723000	0.01866	-0.364000	0.08088	-0.723000	0.03601	GTA	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462507.1		-	ENST00000221347.6	Missense_Mutation	SNP	19 : 40384075 - 40384075 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	869	77
CMTR2	55783	broad.mit.edu	37	16	71318457	71318457	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71318457T>G	ENST00000338099.5	-	3	1703	c.1367A>C	c.(1366-1368)aAa>aCa	p.K456T	CMTR2_ENST00000434935.2_Missense_Mutation_p.K456T					cap methyltransferase 2	456											NA						TACTTTATCTTTCCATGAAAG	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	61	60			NA	NA	16		NA											NA				71318457		2195	4298	6493	SO:0001583	missense			BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917	55783	55783			25635	protein-coding gene	gene with protein product	adrift homolog (Drosophila)		FtsJ methyltransferase domain containing 1	FTSJD1	NA	21310715	Standard	NM_018348	NM_018348	NA	Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.1367A>C	16.37:g.71318457T>G	ENSP00000337512:p.Lys456Thr	NA		37	CCDS10898.1	.	.	.	.	.	.	.	.	.	.	T	6.637	0.485954	0.12641	.	.	ENSG00000180917	ENST00000338099;ENST00000434935	T;T	0.15487	2.42;2.42	5.95	2.28	0.28536	.	0.357917	0.31685	N	0.007233	T	0.11239	0.0274	L	0.38531	1.155	0.35059	D	0.761367	B	0.06786	0.001	B	0.09377	0.004	T	0.18053	-1.0349	10	0.23302	T	0.38	6.4172	6.6036	0.22714	0.0:0.137:0.3614:0.5016	.	456	Q8IYT2	FTSJ1_HUMAN	T	456	ENSP00000337512:K456T;ENSP00000411148:K456T	ENSP00000337512:K456T	K	-	2	0	FTSJD1	69875958	1.000000	0.71417	0.998000	0.56505	0.894000	0.52154	1.467000	0.35321	0.492000	0.27815	-0.537000	0.04273	AAA	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268984.2		-	ENST00000338099.5	Missense_Mutation	SNP	16 : 71318457 - 71318457 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	414	77
TLR6	10333	broad.mit.edu	37	4	38829804	38829804	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:38829804C>A	ENST00000381950.1	-	1	1356	c.1291G>T	c.(1291-1293)Gtg>Ttg	p.V431L	TLR6_ENST00000436693.2_Missense_Mutation_p.V431L			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	431					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTAACACCACTATACTCTCA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	120	118			NA	NA	4		NA											NA				38829804		2203	4300	6503	SO:0001583	missense				CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130	10333	10333		CD molecules	16711	protein-coding gene	gene with protein product		605403			NA	10231569	Standard		NM_006068	NA	Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.1291G>T	4.37:g.38829804C>A	ENSP00000371376:p.Val431Leu	NA	B3Y640|B6CH35|B6RFS4|B6RFS5	37	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	C	1.183	-0.637613	0.03557	.	.	ENSG00000174130	ENST00000436693;ENST00000381950	T;T	0.52295	0.67;0.67	5.14	-0.74	0.11115	.	1.929330	0.02338	N	0.074593	T	0.27933	0.0688	N	0.17723	0.515	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.05954	-1.0854	10	0.11794	T	0.64	.	2.4207	0.04447	0.2402:0.4105:0.1997:0.1497	.	431	Q9Y2C9	TLR6_HUMAN	L	431	ENSP00000389600:V431L;ENSP00000371376:V431L	ENSP00000371376:V431L	V	-	1	0	TLR6	38506199	0.000000	0.05858	0.850000	0.33497	0.978000	0.69477	-0.572000	0.05881	-0.071000	0.12886	0.484000	0.47621	GTG	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250431.1		-	ENST00000381950.1	Missense_Mutation	SNP	4 : 38829804 - 38829804 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	783	137
SNX19	399979	broad.mit.edu	37	11	130785193	130785193	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130785193G>A	ENST00000265909.4	-	1	1211	c.642C>T	c.(640-642)ggC>ggT	p.G214G	SNX19_ENST00000533214.1_Silent_p.G214G|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533318.1_Intron	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	214	PXA.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		AATTCACAACGCCACGCGTAT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	39	40			NA	NA	11		NA											NA				130785193		2201	4297	6498	SO:0001819	synonymous_variant			D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451	399979	399979		Sorting nexins	21532	protein-coding gene	gene with protein product					NA		Standard	NM_014758	NM_014758	NA	Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.642C>T	11.37:g.130785193G>A		NA		37	CCDS31721.1																																																																																			SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385649.1		-	ENST00000265909.4	Silent	SNP	11 : 130785193 - 130785193 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	251	45
C8orf74	203076	broad.mit.edu	37	8	10557846	10557846	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10557846G>T	ENST00000304519.5	+	4	779	c.750G>T	c.(748-750)ctG>ctT	p.L250L	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	250										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		TCTTGGACCTGAAGCTTCAGA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	94	92			NA	NA	8		NA											NA				10557846		2001	4174	6175	SO:0001819	synonymous_variant			BC038534	CCDS47800.1	8p23.1	2012-04-17			ENSG00000171060	ENSG00000171060	203076	203076			32296	protein-coding gene	gene with protein product					NA		Standard	NM_001040032	NM_001040032	NA	Approved		uc003wtd.1	Q6P047	OTTHUMG00000163807	ENST00000304519.5:c.750G>T	8.37:g.10557846G>T		NA	A2RUD6	37	CCDS47800.1																																																																																			C8orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375675.1		+	ENST00000304519.5	Silent	SNP	8 : 10557846 - 10557846 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	478	74
MRAP2	112609	broad.mit.edu	37	6	84798871	84798871	+	Missense_Mutation	SNP	C	C	A	rs145761372	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84798871C>A	ENST00000257776.4	+	4	424	c.289C>A	c.(289-291)Cct>Act	p.P97T		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	97					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						CTTTGGAAGACCTCTGGAGCC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	90	90			NA	NA	6		NA											NA				84798871		2203	4300	6503	SO:0001583	missense			AK090775	CCDS5001.1	6q14.3	2009-10-06	2008-07-16	2008-07-16	ENSG00000135324	ENSG00000135324	112609	112609			21232	protein-coding gene	gene with protein product		615410	chromosome 6 open reading frame 117	C6orf117	NA		Standard	NM_138409	NM_138409	NA	Approved	bA51G5.2	uc003pkg.4	Q96G30	OTTHUMG00000015121	ENST00000257776.4:c.289C>A	6.37:g.84798871C>A	ENSP00000257776:p.Pro97Thr	NA	A8K9M1|Q8IXM9|Q8N2D1	37	CCDS5001.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785756	0.70337	.	.	ENSG00000135324	ENST00000257776	D	0.88741	-2.42	5.18	5.18	0.71444	.	0.274181	0.36034	N	0.002832	T	0.77877	0.4196	L	0.38531	1.155	0.42806	D	0.99394	B	0.30851	0.297	B	0.27262	0.078	T	0.80254	-0.1459	10	0.56958	D	0.05	-5.0941	13.9655	0.64207	0.1516:0.8483:0.0:0.0	.	97	Q96G30	MRAP2_HUMAN	T	97	ENSP00000257776:P97T	ENSP00000257776:P97T	P	+	1	0	MRAP2	84855590	0.986000	0.35501	0.992000	0.48379	0.996000	0.88848	3.005000	0.49521	2.589000	0.87451	0.655000	0.94253	CCT	MRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041367.1		+	ENST00000257776.4	Missense_Mutation	SNP	6 : 84798871 - 84798871 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	534	117
PRSS16	10279	broad.mit.edu	37	6	27219637	27219637	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27219637G>T	ENST00000230582.3	+	8	841	c.826G>T	c.(826-828)Ggc>Tgc	p.G276C	PRSS16_ENST00000421826.2_Intron|PRSS16_ENST00000377456.2_3'UTR	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	276					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CGGGCCCCTGGGCCGCGCTGA	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(178;1118 2105 17078 23587 44429)							NA				0													16	21	20			NA	NA	6		NA											NA				27219637		2184	4284	6468	SO:0001583	missense			AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812	10279	10279		Serine peptidases / Serine peptidases	9480	protein-coding gene	gene with protein product		607169			NA	10527559	Standard		NM_005865	NA	Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.826G>T	6.37:g.27219637G>T	ENSP00000230582:p.Gly276Cys	NA	O75416	37	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.414040	0.25465	.	.	ENSG00000112812	ENST00000230582	T	0.14640	2.49	3.72	0.425	0.16473	.	0.632610	0.15930	N	0.237713	T	0.04724	0.0128	L	0.39898	1.24	0.09310	N	1	P	0.43542	0.81	P	0.46362	0.514	T	0.25882	-1.0119	10	0.56958	D	0.05	0.5666	2.8425	0.05534	0.284:0.0:0.5066:0.2094	.	276	Q9NQE7	TSSP_HUMAN	C	276	ENSP00000230582:G276C	ENSP00000230582:G276C	G	+	1	0	PRSS16	27327616	0.061000	0.20836	0.006000	0.13384	0.040000	0.13550	0.408000	0.21065	-0.048000	0.13401	-0.244000	0.11960	GGC	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043418.2		+	ENST00000230582.3	Missense_Mutation	SNP	6 : 27219637 - 27219637 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	290	54
KIF14	9928	broad.mit.edu	37	1	200544719	200544719	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200544719C>A	ENST00000367350.4	-	22	4004	c.3566G>T	c.(3565-3567)aGg>aTg	p.R1189M		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1189	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TTGTCTTTACCTCCTTCTAGA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	82	84			NA	NA	1		NA											NA				200544719		2203	4300	6503	SO:0001630	splice_region_variant			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193	9928	9928		Kinesins	19181	protein-coding gene	gene with protein product		611279			NA	7584044	Standard	NM_014875	NM_014875	NA	Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.3566+1G>T	1.37:g.200544719C>A		NA	Q14CI8|Q4G0A5|Q5T1W3	37	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874539	0.72180	.	.	ENSG00000118193	ENST00000367350	T	0.18502	2.21	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	M	0.71581	2.175	0.52099	D	0.999943	D	0.89917	1.0	D	0.71184	0.972	T	0.08106	-1.0738	9	.	.	.	.	11.4977	0.50419	0.0:0.9164:0.0:0.0836	.	1189	Q15058	KIF14_HUMAN	M	1189	ENSP00000356319:R1189M	.	R	-	2	0	KIF14	198811342	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	3.194000	0.51005	2.267000	0.75376	0.563000	0.77884	AGG	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086878.1	Missense_Mutation	-	ENST00000367350.4	Splice_Site	SNP	1 : 200544719 - 200544719 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	54
N4BP2L2	10443	broad.mit.edu	37	13	33017510	33017510	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:33017510C>T	ENST00000380121.3	-	0	1134				N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000357505.6_Nonsense_Mutation_p.W373*|N4BP2L2_ENST00000399396.3_Nonsense_Mutation_p.W388*|N4BP2L2_ENST00000504114.1_Nonsense_Mutation_p.W373*			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	NA										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		GTCCTGCAGGCCAGCTACCAA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	74	75			NA	NA	13		NA											NA				33017510		1855	4100	5955	SO:0001623	5_prime_UTR_variant			U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754	10443	10443			26916	protein-coding gene	gene with protein product	phosphonoformate immuno-associated protein 5	615788			NA	8812419	Standard	NM_014887	NM_014887	NA	Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000380121.3:c.-1673G>A	13.37:g.33017510C>T		NA	A3KME8	37		.	.	.	.	.	.	.	.	.	.	C	37	6.562807	0.97667	.	.	ENSG00000139617;ENSG00000139617;ENSG00000244754;ENSG00000244754;ENSG00000244754	ENST00000380121;ENST00000503296;ENST00000504114;ENST00000357505;ENST00000399396	.	.	.	5.61	4.77	0.60923	.	0.509941	0.20334	N	0.094363	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.3345	12.0509	0.53505	0.0:0.9203:0.0:0.0797	.	.	.	.	X	271;300;373;373;388	.	.	W	-	3	0	N4BP2L2;RP11-298P3.4	31915510	1.000000	0.71417	0.998000	0.56505	0.620000	0.37586	1.719000	0.38011	1.368000	0.46115	0.650000	0.86243	TGG	N4BP2L2-013	KNOWN	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000468133.1		-	ENST00000380121.3	5'UTR	SNP	13 : 33017510 - 33017510 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	339	44
ADIPOR1	51094	broad.mit.edu	37	1	202915651	202915651	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202915651G>A	ENST00000340990.5	-	4	644	c.346C>T	c.(346-348)Cct>Tct	p.P116S	ADIPOR1_ENST00000367254.3_Missense_Mutation_p.P116S|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.P116S	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	116					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			GGCATGGGAGGTCTATGACCA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													218	171	187			NA	NA	1		NA											NA				202915651		2203	4300	6503	SO:0001583	missense				CCDS1430.1	1q32.1	2012-08-22			ENSG00000159346	ENSG00000159346	51094	51094		GPCR / Unclassified : Adiponectin receptors	24040	protein-coding gene	gene with protein product		607945			NA	12802337	Standard	NM_015999	XM_006711360	NA	Approved	PAQR1, ACDCR1	uc001gyq.5	Q96A54	OTTHUMG00000041391	ENST00000340990.5:c.346C>T	1.37:g.202915651G>A	ENSP00000341785:p.Pro116Ser	NA	B3KMB0|Q53HS7|Q53YY6|Q9Y360	37	CCDS1430.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928091	0.92389	.	.	ENSG00000159346	ENST00000340990;ENST00000436244;ENST00000417068;ENST00000367254;ENST00000426229	D;D;D;D;D	0.96300	-3.97;-3.97;-3.97;-3.97;-3.97	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.97766	0.9267	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96934	0.9683	10	0.38643	T	0.18	.	19.1458	0.93467	0.0:0.0:1.0:0.0	.	116	Q96A54	ADR1_HUMAN	S	116	ENSP00000341785:P116S;ENSP00000395469:P116S;ENSP00000402178:P116S;ENSP00000356223:P116S;ENSP00000392946:P116S	ENSP00000341785:P116S	P	-	1	0	ADIPOR1	201182274	1.000000	0.71417	0.127000	0.21898	0.796000	0.44982	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	CCT	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000099160.2		-	ENST00000340990.5	Missense_Mutation	SNP	1 : 202915651 - 202915651 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	530	138
AKAP8L	26993	broad.mit.edu	37	19	15511996	15511996	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15511996G>A	ENST00000397410.5	-	5	911	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W	AKAP8L_ENST00000595465.2_Missense_Mutation_p.R200W|AKAP8L_ENST00000595879.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	NA						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TTCCAGGTCCGCCTCATCTGC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	138	133			NA	NA	19		NA											NA				15511996		1984	4144	6128	SO:0001583	missense			BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243	26993	26993			29857	protein-coding gene	gene with protein product	neighbor of A kinase anchoring protein 95	609475			NA	10748171, 10761695	Standard	NM_014371	XM_005259854	NA	Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.781C>T	19.37:g.15511996G>A	ENSP00000380557:p.Arg261Trp	NA	B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	37	CCDS46005.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357158	0.61293	.	.	ENSG00000011243	ENST00000397410	T	0.49139	0.79	4.74	1.06	0.20224	.	0.205156	0.38959	N	0.001507	T	0.49440	0.1557	L	0.34521	1.04	0.35636	D	0.81061	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	P;D;D;P	0.70935	0.898;0.953;0.971;0.898	T	0.54234	-0.8324	10	0.40728	T	0.16	-15.2885	7.3019	0.26426	0.0:0.1389:0.301:0.56	.	200;31;261;261	B4DJ74;Q9UF73;B3KMD4;Q9ULX6	.;.;.;AKP8L_HUMAN	W	261	ENSP00000380557:R261W	ENSP00000380557:R261W	R	-	1	2	AKAP8L	15372996	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.672000	0.37523	0.390000	0.25115	0.491000	0.48974	CGG	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461301.2		-	ENST00000397410.5	Missense_Mutation	SNP	19 : 15511996 - 15511996 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1538	321
F12	2161	broad.mit.edu	37	5	176830605	176830605	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176830605C>A	ENST00000253496.3	-	11	1312	c.1264G>T	c.(1264-1266)Gat>Tat	p.D422Y		NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	422	Peptidase S1.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCGTCAGATCCTCGGGTGCG	0.692		NA							Hereditary Angioedema					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	17	16			NA	NA	5		NA											NA				176830605		2189	4278	6467	SO:0001583	missense	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	2161	2161	3.4.21.38		3530	protein-coding gene	gene with protein product		610619			NA		Standard		NM_000505	NA	Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.1264G>T	5.37:g.176830605C>A	ENSP00000253496:p.Asp422Tyr	NA	P78339	37	CCDS34302.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.844716	0.32606	.	.	ENSG00000131187	ENST00000253496	D	0.89810	-2.57	5.58	2.62	0.31277	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.996761	0.08126	N	0.993933	D	0.82724	0.5099	L	0.35414	1.06	0.80722	D	1	P	0.49253	0.921	B	0.41440	0.357	T	0.78362	-0.2233	10	0.54805	T	0.06	.	6.8453	0.23984	0.0:0.5317:0.3722:0.096	.	422	P00748	FA12_HUMAN	Y	422	ENSP00000253496:D422Y	ENSP00000253496:D422Y	D	-	1	0	F12	176763211	0.426000	0.25506	0.991000	0.47740	0.135000	0.20990	0.288000	0.18939	1.334000	0.45468	0.491000	0.48974	GAT	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373217.1		-	ENST00000253496.3	Missense_Mutation	SNP	5 : 176830605 - 176830605 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	151	35
LRRFIP1	9208	broad.mit.edu	37	2	238632193	238632193	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238632193G>A	ENST00000308482.9	+	7	417	c.348G>A	c.(346-348)tcG>tcA	p.S116S	LRRFIP1_ENST00000289175.6_Intron|LRRFIP1_ENST00000392000.4_Intron|LRRFIP1_ENST00000244815.5_Intron	NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	0					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		TCTGACAGTCGCAGCCTGACT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	147	153			NA	NA	2		NA											NA				238632193		1568	3582	5150	SO:0001819	synonymous_variant			AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831	9208	9208			6702	protein-coding gene	gene with protein product	GC-binding factor 2	603256			NA	9705290, 9525888, 16199883	Standard	NM_004735	NM_004735	NA	Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000308482.9:c.348G>A	2.37:g.238632193G>A		NA	O75766|O75799|Q32MZ5|Q53T49|Q6PKG2	37	CCDS46551.1																																																																																			LRRFIP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257169.3		+	ENST00000308482.9	Silent	SNP	2 : 238632193 - 238632193 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	458	66
KIF27	55582	broad.mit.edu	37	9	86523489	86523489	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86523489C>T	ENST00000297814.2	-	3	520	c.377G>A	c.(376-378)aGc>aAc	p.S126N	KIF27_ENST00000334204.2_Missense_Mutation_p.S126N|KIF27_ENST00000413982.1_Missense_Mutation_p.S126N	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	126	Kinesin-motor.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						AAAGTCAATGCTAGGATGTTC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	143	138			NA	NA	9		NA											NA				86523489		2203	4300	6503	SO:0001583	missense			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115	55582	55582		Kinesins	18632	protein-coding gene	gene with protein product		611253			NA		Standard	NM_017576	NM_017576	NA	Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.377G>A	9.37:g.86523489C>T	ENSP00000297814:p.Ser126Asn	NA	B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	37	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	C	3.082	-0.188885	0.06299	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.72051	-0.62;-0.62;-0.62	5.27	-0.74	0.11115	Kinesin, motor domain (4);	0.413402	0.22375	N	0.060891	T	0.40448	0.1117	N	0.04768	-0.165	0.25894	N	0.98343	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.09377	0.001;0.002;0.004	T	0.31833	-0.9929	10	0.06494	T	0.89	.	10.3921	0.44179	0.0:0.2838:0.0:0.7162	.	126;126;126	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	N	126	ENSP00000297814:S126N;ENSP00000401688:S126N;ENSP00000333928:S126N	ENSP00000297814:S126N	S	-	2	0	KIF27	85713309	0.003000	0.15002	0.977000	0.42913	0.982000	0.71751	0.554000	0.23407	-0.086000	0.12550	0.491000	0.48974	AGC	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052861.1		-	ENST00000297814.2	Missense_Mutation	SNP	9 : 86523489 - 86523489 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	767	22
NACC1	112939	broad.mit.edu	37	19	13246954	13246954	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13246954C>T	ENST00000292431.4	+	2	1059	c.933C>T	c.(931-933)aaC>aaT	p.N311N		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	311					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						GCATGATGAACGTCGGCCAGA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	119	125			NA	NA	19		NA											NA				13246954		2203	4300	6503	SO:0001819	synonymous_variant			AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877	112939	112939		BEN domain containing, BTB/POZ domain containing	20967	protein-coding gene	gene with protein product	nucleus accumbens associated 1, BEN domain containing 8	610672	BTB (POZ) domain containing 14B	BTBD14B	NA	12477932	Standard	NM_052876	NM_052876	NA	Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.933C>T	19.37:g.13246954C>T		NA		37	CCDS12294.1																																																																																			NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452879.1		+	ENST00000292431.4	Silent	SNP	19 : 13246954 - 13246954 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	252	39
C2orf16	84226	broad.mit.edu	37	2	27804403	27804403	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27804403G>A	ENST00000408964.2	+	1	5015	c.4964G>A	c.(4963-4965)cGc>cAc	p.R1655H		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1655	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AGAAGCCATCGCAGTCCCTCA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843	84226	84226			25275	protein-coding gene	gene with protein product	P-S-E-R-S-H-H-S repeats containing				NA		Standard	NM_032266	NM_032266	NA	Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.4964G>A	2.37:g.27804403G>A	ENSP00000386190:p.Arg1655His	NA	B9EIQ4|Q53S01|Q8ND64|Q9H088	37	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823735	0.32237	.	.	ENSG00000221843	ENST00000408964	T	0.05513	3.43	3.39	-4.4	0.03600	.	.	.	.	.	T	0.05593	0.0147	L	0.56769	1.78	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.41360	-0.9513	9	0.48119	T	0.1	.	1.1788	0.01841	0.3834:0.2679:0.2131:0.1356	.	1655	Q68DN1	CB016_HUMAN	H	1655	ENSP00000386190:R1655H	ENSP00000386190:R1655H	R	+	2	0	C2orf16	27657907	0.000000	0.05858	0.000000	0.03702	0.121000	0.20230	-2.704000	0.00822	-1.327000	0.02264	-0.657000	0.03884	CGC	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353292.1		+	ENST00000408964.2	Missense_Mutation	SNP	2 : 27804403 - 27804403 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1638	424
FAT4	79633	broad.mit.edu	37	4	126336858	126336858	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126336858T>C	ENST00000394329.3	+	5	6753	c.6740T>C	c.(6739-6741)aTt>aCt	p.I2247T	FAT4_ENST00000335110.5_Missense_Mutation_p.I545T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2247	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACGGTCAGCATTGTTCTACTG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	94	95			NA	NA	4		NA											NA				126336858		2203	4300	6503	SO:0001583	missense			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159	79633	79633		Cadherins / Cadherin-related	23109	protein-coding gene	gene with protein product	cadherin-related family member 11	612411	FAT tumor suppressor homolog 4 (Drosophila)		NA	15003449	Standard	NM_024582	NM_024582	NA	Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6740T>C	4.37:g.126336858T>C	ENSP00000377862:p.Ile2247Thr	NA	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	T	13.41	2.228321	0.39399	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.61040	0.14;0.14	5.47	5.47	0.80525	Cadherin (4);Cadherin-like (1);	0.000000	0.34725	U	0.003733	D	0.84019	0.5380	H	0.96604	3.85	0.58432	D	0.999993	D;D	0.89917	0.997;1.0	D;D	0.91635	0.992;0.999	D	0.89618	0.3846	10	0.87932	D	0	.	15.5516	0.76158	0.0:0.0:0.0:1.0	.	545;2247	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	T	2247;545	ENSP00000377862:I2247T;ENSP00000335169:I545T	ENSP00000335169:I545T	I	+	2	0	FAT4	126556308	1.000000	0.71417	0.041000	0.18516	0.002000	0.02628	7.880000	0.87243	2.075000	0.62263	0.460000	0.39030	ATT	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256765.2		+	ENST00000394329.3	Missense_Mutation	SNP	4 : 126336858 - 126336858 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	87
PYCR1	5831	broad.mit.edu	37	17	79892866	79892866	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79892866C>A	ENST00000577756.1	-	4	530	c.476G>T	c.(475-477)tGc>tTc	p.C159F	PYCR1_ENST00000329875.8_Missense_Mutation_p.C159F|PYCR1_ENST00000403172.4_Missense_Mutation_p.C159F|PYCR1_ENST00000402252.2_Missense_Mutation_p.C186F|PYCR1_ENST00000337943.5_Missense_Mutation_p.C159F			P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	159					cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)	CACCTCCGTGCAGAAGCCCAC	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	42	45			NA	NA	17		NA											NA				79892866		2203	4299	6502	SO:0001583	missense				CCDS11794.1, CCDS11795.1, CCDS62365.1, CCDS62366.1	17q25.3	2013-09-23			ENSG00000183010	ENSG00000183010	5831	5831	1.5.1.2		9721	protein-coding gene	gene with protein product		179035			NA	1730675	Standard		XM_005256381	NA	Approved	P5C	uc002kcr.1	P32322	OTTHUMG00000178436	ENST00000577756.1:c.476G>T	17.37:g.79892866C>A	ENSP00000463352:p.Cys159Phe	NA	Q6FHI4|Q96DI6	37		.	.	.	.	.	.	.	.	.	.	C	23.0	4.360369	0.82353	.	.	ENSG00000183010	ENST00000337943;ENST00000329875;ENST00000403172;ENST00000402252;ENST00000405481	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	4.13	4.13	0.48395	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.76550	0.4003	M	0.64630	1.985	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D	0.91635	0.985;0.997;0.998;0.997;0.998;0.982;0.999	T	0.80412	-0.1393	10	0.87932	D	0	.	16.0278	0.80555	0.0:1.0:0.0:0.0	.	131;186;159;159;159;159;159	B7Z8T1;B4DMU0;E7D7X9;Q9HBQ4;P32322;E7D7Y0;A6NFM2	.;.;.;.;P5CR1_HUMAN;.;.	F	159;159;159;186;131	ENSP00000336579:C159F;ENSP00000328858:C159F;ENSP00000385483:C159F;ENSP00000384949:C186F	ENSP00000328858:C159F	C	-	2	0	PYCR1	77486157	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	7.594000	0.82698	1.866000	0.54105	0.555000	0.69702	TGC	PYCR1-015	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000441956.1		-	ENST00000577756.1	Missense_Mutation	SNP	17 : 79892866 - 79892866 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	273	37
ABCA13	154664	broad.mit.edu	37	7	48317894	48317894	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48317894C>T	ENST00000435803.1	+	18	7127	c.7103C>T	c.(7102-7104)gCc>gTc	p.A2368V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2368					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTATTTAATGCCCTTCTCAGG	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	40	40			NA	NA	7		NA											NA				48317894		1803	4069	5872	SO:0001583	missense			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869	154664	154664		ATP binding cassette transporters / subfamily A	14638	protein-coding gene	gene with protein product		607807			NA	12697998	Standard	NM_152701	NM_152701	NA	Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7103C>T	7.37:g.48317894C>T	ENSP00000411096:p.Ala2368Val	NA	Q6ZTT7|Q86WI2|Q8N248	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	4.546	0.101394	0.08731	.	.	ENSG00000179869	ENST00000435803	T	0.55760	0.5	4.75	1.32	0.21799	.	1.533400	0.04221	N	0.333578	T	0.38480	0.1042	L	0.28274	0.84	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34675	-0.9819	10	0.72032	D	0.01	.	2.659	0.05020	0.2212:0.501:0.0:0.2778	.	2368	Q86UQ4	ABCAD_HUMAN	V	2368	ENSP00000411096:A2368V	ENSP00000411096:A2368V	A	+	2	0	ABCA13	48288440	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.498000	0.06420	0.517000	0.28361	0.561000	0.74099	GCC	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341964.2		+	ENST00000435803.1	Missense_Mutation	SNP	7 : 48317894 - 48317894 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	112	14
PANX2	56666	broad.mit.edu	37	22	50615556	50615556	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50615556G>A	ENST00000395842.2	+	2	415	c.415G>A	c.(415-417)Gcg>Acg	p.A139T	PANX2_ENST00000159647.5_Missense_Mutation_p.A139T	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	139					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GTACGTGCCCGCGCTGGGCTG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	28	31			NA	NA	22		NA											NA				50615556		2195	4298	6493	SO:0001583	missense				CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150	56666	56666		Ion channels / Pannexins	8600	protein-coding gene	gene with protein product		608421			NA	14702039, 14597722	Standard	NM_052839	NM_052839	NA	Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.415G>A	22.37:g.50615556G>A	ENSP00000379183:p.Ala139Thr	NA	B7Z684|Q96RD5|Q9UGX8	37	CCDS14085.2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465657	0.84425	.	.	ENSG00000073150	ENST00000159647;ENST00000395842	T;T	0.29655	1.56;1.56	4.54	3.5	0.40072	.	0.064589	0.64402	D	0.000008	T	0.22859	0.0552	L	0.36672	1.1	0.58432	D	0.999997	P;P	0.42757	0.597;0.789	B;B	0.37015	0.089;0.239	T	0.08086	-1.0739	10	0.54805	T	0.06	-13.0858	12.2486	0.54585	0.0843:0.0:0.9157:0.0	.	139;139	Q96RD6-1;Q96RD6	.;PANX2_HUMAN	T	139	ENSP00000159647:A139T;ENSP00000379183:A139T	ENSP00000159647:A139T	A	+	1	0	PANX2	48957683	1.000000	0.71417	0.880000	0.34516	0.988000	0.76386	7.571000	0.82399	2.251000	0.74343	0.555000	0.69702	GCG	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075010.3		+	ENST00000395842.2	Missense_Mutation	SNP	22 : 50615556 - 50615556 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	119	15
TTN	7273	broad.mit.edu	37	2	179616305	179616305	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179616305C>A	ENST00000589042.1	-	47	11536				TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Nonsense_Mutation_p.E3608*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	NA							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAGAAATTCTAAATATTTC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	134	133			NA	NA	2		NA											NA				179616305		2199	4297	6496	SO:0001627	intron_variant			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.11311+1545G>T	2.37:g.179616305C>A		NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	52	18.901835	0.99912	.	.	ENSG00000155657	ENST00000360870	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	19.8137	0.96557	0.0:1.0:0.0:0.0	.	.	.	.	X	3608	.	ENSP00000354117:E3608X	E	-	1	0	TTN	179324550	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.238000	0.43070	2.780000	0.95670	0.655000	0.94253	GAA	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Intron	SNP	2 : 179616305 - 179616305 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	729	153
OR14A16	284532	broad.mit.edu	37	1	247978167	247978167	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247978167A>C	ENST00000357627.1	-	1	864	c.865T>G	c.(865-867)Ttg>Gtg	p.L289V		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TTGTTTCTCAAACTGTATATA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(112;180 1586 15073 21914 33526)							NA				0													61	60	60			NA	NA	1		NA											NA				247978167		2203	4300	6503	SO:0001583	missense			BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772	284532	284532		GPCR / Class A : Olfactory receptors	15022	protein-coding gene	gene with protein product			olfactory receptor, family 5, subfamily AT, member 1	OR5AT1	NA		Standard	NM_001001966	NM_001001966	NA	Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.865T>G	1.37:g.247978167A>C	ENSP00000350248:p.Leu289Val	NA	Q6IF96	37	CCDS31097.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.258888	0.39896	.	.	ENSG00000196772	ENST00000357627	T	0.46451	0.87	3.69	-1.01	0.10169	.	0.462575	0.15624	U	0.252752	T	0.72415	0.3457	H	0.97983	4.12	0.09310	N	1	D	0.76494	0.999	D	0.81914	0.995	T	0.63111	-0.6710	10	0.66056	D	0.02	.	9.6549	0.39919	0.543:0.0:0.457:0.0	.	289	Q8NHC5	O14AG_HUMAN	V	289	ENSP00000350248:L289V	ENSP00000350248:L289V	L	-	1	2	OR14A16	246044790	0.000000	0.05858	0.001000	0.08648	0.111000	0.19643	-0.549000	0.06041	-0.123000	0.11745	-0.344000	0.07964	TTG	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096856.1		-	ENST00000357627.1	Missense_Mutation	SNP	1 : 247978167 - 247978167 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	254	48
GBE1	2632	broad.mit.edu	37	3	81810601	81810601	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:81810601G>A	ENST00000429644.2	-	1	711	c.68C>T	c.(67-69)gCt>gTt	p.A23V		NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	23					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		GGGCACGTCAGCCAGGGCGGC	0.682		NA							Glycogen Storage Disease, type IV					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	41	39			NA	NA	3		NA											NA				81810601		2014	4163	6177	SO:0001583	missense	Familial Cancer Database	Andersen Disease, Brancher deficiency		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2632	2632	2.4.1.18		4180	protein-coding gene	gene with protein product	glycogen branching enzyme, Andersen disease, glycogen storage disease type IV	607839			NA	8463281	Standard		NM_000158	NA	Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.68C>T	3.37:g.81810601G>A	ENSP00000410833:p.Ala23Val	NA	Q96EN0	37	CCDS54612.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.278638	0.23307	.	.	ENSG00000114480	ENST00000429644;ENST00000264326	T	0.17370	2.28	3.42	3.42	0.39159	.	0.197648	0.34002	U	0.004349	T	0.13457	0.0326	L	0.40543	1.245	0.43919	D	0.996564	B	0.02656	0.0	B	0.04013	0.001	T	0.06679	-1.0813	10	0.27785	T	0.31	-2.5332	10.5247	0.44941	0.0:0.0:1.0:0.0	.	23	Q04446	GLGB_HUMAN	V	23;74	ENSP00000410833:A23V	ENSP00000264326:A74V	A	-	2	0	GBE1	81893291	0.069000	0.21087	0.179000	0.23059	0.093000	0.18481	1.010000	0.29898	1.906000	0.55180	0.462000	0.41574	GCT	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352760.2		-	ENST00000429644.2	Missense_Mutation	SNP	3 : 81810601 - 81810601 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	293	52
B4GALNT4	338707	broad.mit.edu	37	11	375875	375875	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:375875G>T	ENST00000329962.6	+	11	1014	c.1014G>T	c.(1012-1014)gaG>gaT	p.E338D		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	338						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGAGCCTGGAGAACGTGCTGG	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	29	32			NA	NA	11		NA											NA				375875		2189	4294	6483	SO:0001583	missense			AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	338707	338707	2.4.1.-	Beta 4-glycosyltransferases	26315	protein-coding gene	gene with protein product					NA	15044014	Standard	NM_178537	NM_178537	NA	Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.1014G>T	11.37:g.375875G>T	ENSP00000328277:p.Glu338Asp	NA	Q96LV2	37	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	g	13.17	2.158463	0.38119	.	.	ENSG00000182272	ENST00000329962	T	0.73897	-0.79	3.61	2.69	0.31865	.	0.912273	0.09321	N	0.818214	T	0.67915	0.2944	L	0.58101	1.795	0.39391	D	0.966419	B	0.27351	0.176	B	0.22386	0.039	T	0.63116	-0.6709	10	0.44086	T	0.13	-35.4561	7.1343	0.25519	0.0955:0.173:0.7315:0.0	.	338	Q76KP1	B4GN4_HUMAN	D	338	ENSP00000328277:E338D	ENSP00000328277:E338D	E	+	3	2	B4GALNT4	365875	1.000000	0.71417	0.758000	0.31321	0.632000	0.37999	3.133000	0.50531	0.852000	0.35287	0.491000	0.48974	GAG	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239289.2		+	ENST00000329962.6	Missense_Mutation	SNP	11 : 375875 - 375875 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	137	28
ORC4	5000	broad.mit.edu	37	2	148705663	148705663	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:148705663A>C	ENST00000392857.5	-	9	826	c.719T>G	c.(718-720)tTt>tGt	p.F240C	ORC4_ENST00000536575.1_Missense_Mutation_p.F156C|ORC4_ENST00000535373.1_Missense_Mutation_p.F240C|ORC4_ENST00000264169.2_Missense_Mutation_p.F240C|ORC4_ENST00000542387.1_Missense_Mutation_p.F23C|ORC4_ENST00000392858.1_Missense_Mutation_p.F240C|ORC4_ENST00000540442.1_Missense_Mutation_p.F166C	NM_001190879.2|NM_001190882.2|NM_002552.4|NM_181741.3	NP_001177808.1|NP_001177811.1|NP_002543.2|NP_859525.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4	NA					cell cycle checkpoint|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	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						CTTGTCTGGAAACTCTGCAGG	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	68	66			NA	NA	2		NA											NA				148705663		2203	4295	6498	SO:0001583	missense			AF022108	CCDS2187.1, CCDS54404.1, CCDS54405.1	2q22-q23	2010-10-12	2010-10-12	2010-10-12	ENSG00000115947	ENSG00000115947	5000	5000		ATPases / AAA-type	8490	protein-coding gene	gene with protein product		603056	origin recognition complex, subunit 4 (yeast homolog)-like, origin recognition complex, subunit 4-like (yeast), origin recognition complex, subunit 4-like (S. cerevisiae), origin recognition complex, subunit 4 homolog (S. cerevisiae)	ORC4L	NA	9353276, 9691185	Standard	NM_181742	NM_181742	NA	Approved	HsORC4, Orc4p	uc002twk.3	O43929	OTTHUMG00000131849	ENST00000392857.5:c.719T>G	2.37:g.148705663A>C	ENSP00000376597:p.Phe240Cys	NA	D3DP86|Q96C42	37	CCDS2187.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.118094	0.77323	.	.	ENSG00000115947	ENST00000264169;ENST00000535373;ENST00000392858;ENST00000540442;ENST00000536575;ENST00000392857;ENST00000542387	T;T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.88321	0.6405	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.985;0.985;0.985	D	0.87781	0.2612	10	0.35671	T	0.21	-18.5534	16.214	0.82191	1.0:0.0:0.0:0.0	.	240;240;240	B7Z2M4;A8K7H4;O43929	.;.;ORC4_HUMAN	C	240;240;240;166;156;240;23	ENSP00000264169:F240C;ENSP00000441953:F240C;ENSP00000376598:F240C;ENSP00000438326:F166C;ENSP00000441502:F156C;ENSP00000376597:F240C;ENSP00000437440:F23C	ENSP00000264169:F240C	F	-	2	0	ORC4	148422133	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.737000	0.91562	2.224000	0.72417	0.528000	0.53228	TTT	ORC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254797.3		-	ENST00000392857.5	Missense_Mutation	SNP	2 : 148705663 - 148705663 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	416	60
N4BP2	55728	broad.mit.edu	37	4	40138628	40138628	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40138628G>A	ENST00000261435.6	+	14	5127	c.4711G>A	c.(4711-4713)Gtt>Att	p.V1571I		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1571						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TGTAAAAACAGTTGTAGCCCA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	75	75			NA	NA	4		NA											NA				40138628		2203	4300	6503	SO:0001583	missense			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177	55728	55728			29851	protein-coding gene	gene with protein product	BCL-3 binding protein				NA	10718198, 11717310	Standard	NM_018177	NM_018177	NA	Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.4711G>A	4.37:g.40138628G>A	ENSP00000261435:p.Val1571Ile	NA	A0AVR3|Q9NVK2|Q9P2D4	37	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.676723|4.676723	0.88445|0.88445	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000513269|ENST00000261435;ENST00000381804	.|T	.|0.22134	.|1.97	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.069343	.|0.56097	.|D	.|0.000029	T|T	0.36386|0.36386	0.0965|0.0965	L|L	0.32530|0.32530	0.975|0.975	0.48341|0.48341	D|D	0.999636|0.999636	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.80764	.|0.994;0.987	T|T	0.03025|0.03025	-1.1081|-1.1081	5|10	.|0.39692	.|T	.|0.17	-14.4961|-14.4961	17.3733|17.3733	0.87384|0.87384	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1571;1571	.|Q86UW6-2;Q86UW6	.|.;N4BP2_HUMAN	N|I	1217|1571;1491	.|ENSP00000261435:V1571I	.|ENSP00000261435:V1571I	S|V	+|+	2|1	0|0	N4BP2|N4BP2	39815023|39815023	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	7.671000|7.671000	0.83941|0.83941	2.524000|2.524000	0.85096|0.85096	0.563000|0.563000	0.77884|0.77884	AGT|GTT	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250458.2		+	ENST00000261435.6	Missense_Mutation	SNP	4 : 40138628 - 40138628 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	46
A2ML1	144568	broad.mit.edu	37	12	9016434	9016434	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9016434G>A	ENST00000299698.7	+	29	3727	c.3547G>A	c.(3547-3549)Gcc>Acc	p.A1183T	A2ML1_ENST00000539547.1_Missense_Mutation_p.A692T	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	1027						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ATCATCGAACGCCAGCCCTTG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	74	75			NA	NA	12		NA											NA				9016434		1914	4153	6067	SO:0001583	missense			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535	144568	144568			23336	protein-coding gene	gene with protein product		610627	C3 and PZP-like, alpha-2-macroglobulin domain containing 9	CPAMD9	NA	16298998	Standard	NM_144670	NM_144670	NA	Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.3547G>A	12.37:g.9016434G>A	ENSP00000299698:p.Ala1183Thr	NA		37	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	G	7.875	0.729032	0.15507	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.33438	1.41;1.41;1.41	4.09	2.96	0.34315	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.733359	0.11961	N	0.512732	T	0.12646	0.0307	N	0.10664	0.02	0.09310	N	1	B	0.13145	0.007	B	0.12837	0.008	T	0.34004	-0.9846	10	0.12430	T	0.62	.	3.8258	0.08853	0.2646:0.1927:0.5427:0.0	.	1183	A8K2U0	A2ML1_HUMAN	T	1183;1183;733;692	ENSP00000299698:A1183T;ENSP00000443174:A733T;ENSP00000438292:A692T	ENSP00000299698:A1183T	A	+	1	0	A2ML1	8907701	0.000000	0.05858	0.008000	0.14137	0.348000	0.29142	0.647000	0.24812	0.789000	0.33779	0.591000	0.81541	GCC	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250304.3		+	ENST00000299698.7	Missense_Mutation	SNP	12 : 9016434 - 9016434 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	302	80
FCN2	2220	broad.mit.edu	37	9	137772718	137772718	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137772718C>A	ENST00000291744.6	+	1	61	c.51C>A	c.(49-51)ctC>ctA	p.L17L	FCN2_ENST00000350339.2_Silent_p.L17L	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	17					complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		CCCTGCTGCTCTCTTTCCTGG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	46	44			NA	NA	9		NA											NA				137772718		2203	4300	6503	SO:0001819	synonymous_variant			D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339	2220	2220		Fibrinogen C domain containing	3624	protein-coding gene	gene with protein product	hucolin, collagen/fibrinogen domain-containing protein 2, ficolin B, serum lectin p35, L-ficolin	601624	ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)		NA	8884275	Standard	NM_004108	XM_006717015	NA	Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.51C>A	9.37:g.137772718C>A		NA	A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	37	CCDS6983.1																																																																																			FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054960.1		+	ENST00000291744.6	Silent	SNP	9 : 137772718 - 137772718 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	157	8
MGST2	4258	broad.mit.edu	37	4	140599697	140599697	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:140599697G>A	ENST00000265498.1	+	2	311	c.59G>A	c.(58-60)aGt>aAt	p.S20N	MGST2_ENST00000515137.1_Intron|MGST2_ENST00000506797.1_Splice_Site_p.S20N	NM_001204366.1|NM_002413.4	NP_001191295.1|NP_002404.1	Q99735	MGST2_HUMAN	microsomal glutathione S-transferase 2	20					glutathione biosynthetic process|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane|plasma membrane	enzyme activator activity|glutathione peroxidase activity|glutathione transferase activity|leukotriene-C4 synthase activity			lung(1)|ovary(1)	2	all_hematologic(180;0.162)				Glutathione(DB00143)	TTACTTGCAGGTTATTTTGCT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	87	89			NA	NA	4		NA											NA				140599697		2203	4300	6503	SO:0001630	splice_region_variant			U77604	CCDS3749.1, CCDS56339.1	4q28.3	2012-06-21			ENSG00000085871	ENSG00000085871	4258	4258	2.5.1.18	Glutathione S-transferases / Microsomal	7063	protein-coding gene	gene with protein product		601733			NA	8703034	Standard	NM_002413	NM_002413	NA	Approved	MGST-II	uc003ihy.3	Q99735	OTTHUMG00000133382	ENST00000265498.1:c.59-1G>A	4.37:g.140599697G>A		NA	Q7Z5B8	37	CCDS3749.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.345809	0.41599	.	.	ENSG00000085871	ENST00000265498;ENST00000506797	T;T	0.68765	0.37;-0.35	5.25	-0.316	0.12743	Membrane associated eicosanoid/glutathione metabolism-like domain (1);	0.228496	0.35646	N	0.003078	T	0.49012	0.1532	L	0.52364	1.645	0.29147	N	0.878651	B	0.12630	0.006	B	0.12156	0.007	T	0.21042	-1.0257	9	.	.	.	.	1.4533	0.02380	0.1712:0.1329:0.4008:0.2952	.	20	Q99735	MGST2_HUMAN	N	20	ENSP00000265498:S20N;ENSP00000424278:S20N	.	S	+	2	0	MGST2	140819147	1.000000	0.71417	0.996000	0.52242	0.861000	0.49209	0.295000	0.19065	0.185000	0.20105	0.561000	0.74099	AGT	MGST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257232.2	Missense_Mutation	+	ENST00000265498.1	Splice_Site	SNP	4 : 140599697 - 140599697 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	186	38
DET1	55070	broad.mit.edu	37	15	89073957	89073957	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89073957C>T	ENST00000564406.1	-	3	1173	c.1013G>A	c.(1012-1014)cGg>cAg	p.R338Q	DET1_ENST00000444300.1_Missense_Mutation_p.R338Q|DET1_ENST00000268148.8_Missense_Mutation_p.R327Q	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	327						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TCGCAGCTGCCGCAGTTGGTC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	46	45			NA	NA	15		NA											NA				89073957		1932	4124	6056	SO:0001583	missense			BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543	55070	55070			25477	protein-coding gene	gene with protein product		608727			NA	14739464	Standard	NM_017996	NM_001144074	NA	Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000564406.1:c.1013G>A	15.37:g.89073957C>T	ENSP00000456340:p.Arg338Gln	NA	Q2VPC0|Q9NWD5	37	CCDS45343.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.991526	0.35131	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	5.65	4.71	0.59529	.	0.048971	0.85682	N	0.000000	T	0.57007	0.2024	L	0.58101	1.795	0.58432	D	0.999997	B;B	0.19817	0.039;0.039	B;B	0.19946	0.016;0.027	T	0.53669	-0.8406	9	0.13470	T	0.59	-28.4679	15.0509	0.71867	0.1428:0.8572:0.0:0.0	.	327;338	Q7L5Y6;B3KNN6	DET1_HUMAN;.	Q	338;327	.	ENSP00000268148:R327Q	R	-	2	0	DET1	86874961	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.277000	0.58939	1.584000	0.49913	0.655000	0.94253	CGG	DET1-007	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432801.1		-	ENST00000564406.1	Missense_Mutation	SNP	15 : 89073957 - 89073957 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	163	36
KY	339855	broad.mit.edu	37	3	134322952	134322952	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134322952G>A	ENST00000508956.1	-	10	1449	c.1392C>T	c.(1390-1392)agC>agT	p.S464S	KY_ENST00000503669.1_3'UTR|KY_ENST00000423778.2_Silent_p.S485S			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	485						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						CCTCCTCCACGCTGAAGCTGA	0.622		NA											G	2	9e-04	0.0041	NA	2184	NA	0.9997	,	,	NA	4e-04	NA	NA	NA	0.0011	0.8824	EXOME	NA	NA	4e-04	SNP								NA				0								G		1,4129		0,1,2064	26	28	27		1455	-8	0.7	3		27	0,8390		0,0,4195	no	coding-synonymous	KY	NM_178554.4		0,1,6259	AA,AG,GG	NA	0.0,0.0242,0.0080		485/662	134322952	1,12519	2065	4195	6260	SO:0001819	synonymous_variant			AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611	339855	339855			26576	protein-coding gene	gene with protein product		605739			NA		Standard	NM_178554	NM_178554	NA	Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000508956.1:c.1392C>T	3.37:g.134322952G>A		NA	B7Z1S4|Q6ZT15	37																																																																																				KY-005	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000357324.1		-	ENST00000508956.1	Silent	SNP	3 : 134322952 - 134322952 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	121	22
DGKI	9162	broad.mit.edu	37	7	137154342	137154342	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137154342C>T	ENST00000453654.2	-	25	2090	c.1551G>A	c.(1549-1551)agG>agA	p.R517R	DGKI_ENST00000446122.1_Silent_p.R799R|DGKI_ENST00000424189.2_Silent_p.R820R|DGKI_ENST00000288490.5_Silent_p.R817R			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	NA					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTGAGAGAGCCCTGGGGAAGG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	118	123			NA	NA	7		NA											NA				137154342		2203	4300	6503	SO:0001819	synonymous_variant			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680	9162	9162		Ankyrin repeat domain containing	2855	protein-coding gene	gene with protein product		604072			NA	9830018	Standard	NM_004717	NM_004717	NA	Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000453654.2:c.1551G>A	7.37:g.137154342C>T		NA	A4D1Q9|Q9NZ49	37																																																																																				DGKI-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000341287.2		-	ENST00000453654.2	Silent	SNP	7 : 137154342 - 137154342 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	351	44
SLC27A5	10998	broad.mit.edu	37	19	59012709	59012709	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59012709C>T	ENST00000263093.2	-	4	1235	c.1126G>A	c.(1126-1128)Gtg>Atg	p.V376M	SLC27A5_ENST00000601355.1_Missense_Mutation_p.V292M	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	376					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		ATCACTGTCACGCCATGCTGC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	104	105			NA	NA	19		NA											NA				59012709		2203	4300	6503	SO:0001583	missense			AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807	10998	10998		Acyl-CoA synthetase family, Solute carriers	10999	protein-coding gene	gene with protein product	fatty-acid-Coenzyme A ligase, very long-chain 3	603314			NA	10479480, 10749848	Standard	NM_012254	NM_012254	NA	Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1126G>A	19.37:g.59012709C>T	ENSP00000263093:p.Val376Met	NA	B3KVP6	37	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.899941	0.72754	.	.	ENSG00000083807	ENST00000263093	T	0.51071	0.72	4.9	4.9	0.64082	AMP-dependent synthetase/ligase (1);	0.073155	0.53938	D	0.000046	T	0.73353	0.3576	M	0.90759	3.145	0.38129	D	0.938098	D	0.89917	1.0	D	0.87578	0.998	T	0.81406	-0.0947	10	0.87932	D	0	-29.8733	13.9553	0.64144	0.0:1.0:0.0:0.0	.	376	Q9Y2P5	S27A5_HUMAN	M	376	ENSP00000263093:V376M	ENSP00000263093:V376M	V	-	1	0	SLC27A5	63704521	0.992000	0.36948	0.943000	0.38184	0.778000	0.44026	3.066000	0.50002	2.443000	0.82685	0.563000	0.77884	GTG	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000467060.1		-	ENST00000263093.2	Missense_Mutation	SNP	19 : 59012709 - 59012709 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	672	128
MYO18B	84700	broad.mit.edu	37	22	26346384	26346384	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26346384G>A	ENST00000407587.2	+	37	5972	c.5803G>A	c.(5803-5805)Gcc>Acc	p.A1935T	MYO18B_ENST00000536101.1_Missense_Mutation_p.A1934T|MYO18B_ENST00000335473.7_Missense_Mutation_p.A1934T			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1934	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCTGGAGGAAGCCAAGAAGGA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	44	42			NA	NA	22		NA											NA				26346384		1954	4155	6109	SO:0001583	missense			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454	84700	84700		Myosins / Myosin superfamily : Class XVIII	18150	protein-coding gene	gene with protein product		607295			NA	12209013, 12547197	Standard	NM_032608	NM_032608	NA	Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.5803G>A	22.37:g.26346384G>A	ENSP00000386096:p.Ala1935Thr	NA	B2RWP3|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	37		.	.	.	.	.	.	.	.	.	.	G	13.98	2.399706	0.42512	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.88046	-2.31;-2.31;-2.33	5.51	0.915	0.19366	.	0.363968	0.25780	N	0.028356	T	0.73713	0.3622	N	0.17474	0.49	0.24291	N	0.995169	B;B;B;B	0.18310	0.004;0.01;0.027;0.016	B;B;B;B	0.13407	0.009;0.004;0.009;0.009	T	0.60177	-0.7314	10	0.31617	T	0.26	.	9.1788	0.37129	0.3555:0.0:0.6444:0.0	.	1447;1934;1935;1934	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	T	1934;1934;1935	ENSP00000441229:A1934T;ENSP00000334563:A1934T;ENSP00000386096:A1935T	ENSP00000334563:A1934T	A	+	1	0	MYO18B	24676384	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	2.721000	0.47260	0.281000	0.22233	-0.251000	0.11542	GCC	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000400691.1		+	ENST00000407587.2	Missense_Mutation	SNP	22 : 26346384 - 26346384 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	70	10
TOPORS	10210	broad.mit.edu	37	9	32541482	32541482	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32541482T>G	ENST00000360538.2	-	3	3157	c.3041A>C	c.(3040-3042)aAc>aCc	p.N1014T	TOPORS_ENST00000379858.1_Missense_Mutation_p.N949T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	1014					DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		AGACACAATGTTACTGGGCTG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	122	123			NA	NA	9		NA											NA				32541482		2203	4300	6503	SO:0001583	missense			AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579	10210	10210		RING-type (C3HC4) zinc fingers	21653	protein-coding gene	gene with protein product		609507	retinitis pigmentosa 31 (autosomal dominant), topoisomerase I binding, arginine/serine-rich	RP31	NA	10352183, 12083797, 17924349	Standard	NM_005802	NM_005802	NA	Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.3041A>C	9.37:g.32541482T>G	ENSP00000353735:p.Asn1014Thr	NA	O43273|Q6P987|Q9NS55|Q9UNR9	37	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	T	4.083	0.013251	0.07912	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.17528	2.27;2.29	5.61	3.25	0.37280	.	0.126503	0.36134	N	0.002769	T	0.07683	0.0193	N	0.08118	0	0.09310	N	1	B	0.32781	0.384	B	0.33196	0.159	T	0.22730	-1.0208	10	0.41790	T	0.15	-16.2427	4.8212	0.13392	0.0:0.1625:0.1604:0.6771	.	1014	Q9NS56	TOPRS_HUMAN	T	1014;949	ENSP00000353735:N1014T;ENSP00000369187:N949T	ENSP00000353735:N1014T	N	-	2	0	TOPORS	32531482	0.001000	0.12720	0.125000	0.21846	0.053000	0.15095	0.768000	0.26590	0.488000	0.27723	0.528000	0.53228	AAC	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052007.1		-	ENST00000360538.2	Missense_Mutation	SNP	9 : 32541482 - 32541482 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	495	97
MCAT	27349	broad.mit.edu	37	22	43529075	43529075	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43529075G>T	ENST00000290429.6	-	4	1192	c.1147C>A	c.(1147-1149)Ctg>Atg	p.L383M	MCAT_ENST00000327555.5_3'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	NA					fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				TGAGGGTCCAGGTCCACATGT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	86	85			NA	NA	22		NA											NA				43529075		2203	4300	6503	SO:0001583	missense			AL359401	CCDS14045.1, CCDS33660.1	22q13.2	2010-04-27			ENSG00000100294	ENSG00000100294	27349	27349	2.3.1.39		29622	protein-coding gene	gene with protein product		614479			NA	12882974	Standard	NM_173467	NM_173467	NA	Approved	MT, MCT, fabD, FASN2C, NET62	uc003bdl.1	Q8IVS2	OTTHUMG00000150704	ENST00000290429.6:c.1147C>A	22.37:g.43529075G>T	ENSP00000290429:p.Leu383Met	NA	O95510|O95511	37	CCDS33660.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.514198	0.27123	.	.	ENSG00000100294	ENST00000290429	T	0.47528	0.84	4.28	-3.24	0.05094	.	2.333530	0.02116	N	0.055174	T	0.20820	0.0501	N	0.02011	-0.69	0.09310	N	1	B	0.25955	0.138	B	0.25405	0.06	T	0.21211	-1.0252	10	0.49607	T	0.09	-23.036	4.6378	0.12534	0.0882:0.4118:0.3598:0.1401	.	383	Q8IVS2	FABD_HUMAN	M	383	ENSP00000290429:L383M	ENSP00000290429:L383M	L	-	1	2	MCAT	41859019	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	-1.101000	0.03336	-0.026000	0.13895	0.650000	0.86243	CTG	MCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319677.2		-	ENST00000290429.6	Missense_Mutation	SNP	22 : 43529075 - 43529075 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	663	102
DMPK	1760	broad.mit.edu	37	19	46281440	46281440	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46281440C>A	ENST00000354227.5	-	6	756	c.620G>T	c.(619-621)gGc>gTc	p.G207V	DMPK_ENST00000343373.4_Missense_Mutation_p.G217V|DMPK_ENST00000447742.2_Missense_Mutation_p.G207V|DMPK_ENST00000600757.1_Missense_Mutation_p.G217V|DMPK_ENST00000458663.2_Missense_Mutation_p.G207V|DMPK_ENST00000291270.4_Missense_Mutation_p.G207V			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	217	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GCGGATGTGGCCACAGCGGTC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(35;307 869 9153 24033 28903)							NA				0													71	51	58			NA	NA	19		NA											NA				46281440		2203	4300	6503	SO:0001583	missense			L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					1760	1760	2.7.11.1		2933	protein-coding gene	gene with protein product	dystrophia myotonica 1, DM protein kinase, myotonin protein kinase A, myotonic dystrophy associated protein kinase, thymopoietin homolog	605377	dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)	DM1, DM	NA	1546325, 1546326	Standard	NM_004409	NM_001288765	NA	Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000354227.5:c.620G>T	19.37:g.46281440C>A	ENSP00000346168:p.Gly207Val	NA	Q16205|Q6P5Z6	37		.	.	.	.	.	.	.	.	.	.	c	28.6	4.931895	0.92389	.	.	ENSG00000104936	ENST00000458663;ENST00000342805;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000343373;ENST00000348168;ENST00000354227	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	4.53	4.53	0.55603	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42294	D	0.000722	T	0.75803	0.3899	M	0.93808	3.46	0.80722	D	1	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	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.83025	-0.0165	10	0.87932	D	0	.	14.7911	0.69844	0.0:1.0:0.0:0.0	.	207;207;233;207;207;207;254;217	Q09013-12;Q09013-16;G5E982;E5KR07;E5KR05;Q09013;Q59FU6;E5KR08	.;.;.;.;.;DMPK_HUMAN;.;.	V	207;233;207;207;207;217;217;207	ENSP00000401753:G207V;ENSP00000291270:G207V;ENSP00000413417:G207V;ENSP00000345997:G217V;ENSP00000346168:G207V	ENSP00000291270:G207V	G	-	2	0	DMPK	50973280	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.564000	0.82326	2.330000	0.79161	0.650000	0.86243	GGC	DMPK-003	KNOWN	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000460577.1		-	ENST00000354227.5	Missense_Mutation	SNP	19 : 46281440 - 46281440 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	135	12
CASP4	837	broad.mit.edu	37	11	104820346	104820346	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104820346G>T	ENST00000393150.3	-	5	799	c.537C>A	c.(535-537)ttC>ttA	p.F179L	CASP4_ENST00000444739.2_Missense_Mutation_p.F235L	NM_033306.2	NP_150649.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	235					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	p.F235F(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		TGAATATCTGGAAGATGGTGT	0.483		NA												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)											280	231	248			NA	NA	11		NA											NA				104820346		2202	4299	6501	SO:0001583	missense			U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954	837	837		Caspases	1505	protein-coding gene	gene with protein product		602664	caspase 4, apoptosis-related cysteine protease		NA	7797510, 9250871	Standard	NM_001225	NM_001225	NA	Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000393150.3:c.537C>A	11.37:g.104820346G>T	ENSP00000376857:p.Phe179Leu	NA		37	CCDS41704.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013534	0.35511	.	.	ENSG00000196954	ENST00000444739;ENST00000393150;ENST00000355546	T;T	0.20738	2.05;2.05	4.57	0.471	0.16752	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.171913	0.52532	D	0.000069	T	0.25082	0.0609	M	0.73319	2.225	0.20821	N	0.999842	P;P	0.40578	0.722;0.593	B;B	0.44044	0.439;0.233	T	0.10268	-1.0637	10	0.62326	D	0.03	.	7.3478	0.26674	0.5099:0.0:0.4901:0.0	.	235;235	B4E2D2;P49662	.;CASP4_HUMAN	L	235;179;188	ENSP00000388566:F235L;ENSP00000376857:F179L	ENSP00000347741:F188L	F	-	3	2	CASP4	104325556	0.064000	0.20934	0.380000	0.26093	0.105000	0.19272	0.351000	0.20096	0.169000	0.19679	-0.142000	0.14014	TTC	CASP4-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387752.1		-	ENST00000393150.3	Missense_Mutation	SNP	11 : 104820346 - 104820346 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	679	119
SCG3	29106	broad.mit.edu	37	15	51975574	51975574	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51975574C>T	ENST00000220478.3	+	4	743	c.340C>T	c.(340-342)Cga>Tga	p.R114*	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	114					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		AACCAAGAATCGAAAACTGAT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	126	124			NA	NA	15		NA											NA				51975574		2195	4293	6488	SO:0001587	stop_gained			AF078851	CCDS10142.1, CCDS53947.1	15q21.2	2013-09-23			ENSG00000104112	ENSG00000104112	29106	29106			13707	protein-coding gene	gene with protein product		611796			NA	2053134, 8825061	Standard	NM_013243	NM_013243	NA	Approved	SGIII, FLJ90833	uc002abh.3	Q8WXD2	OTTHUMG00000131748	ENST00000220478.3:c.340C>T	15.37:g.51975574C>T	ENSP00000220478:p.Arg114*	NA	A8K2B0|Q96C83|Q96GE8|Q9Y6G7	37	CCDS10142.1	.	.	.	.	.	.	.	.	.	.	C	40	8.080766	0.98643	.	.	ENSG00000104112	ENST00000220478	.	.	.	6.07	4.16	0.48862	.	0.059838	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-35.973	10.9175	0.47146	0.1314:0.8019:0.0:0.0667	.	.	.	.	X	114	.	ENSP00000220478:R114X	R	+	1	2	SCG3	49762866	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.223000	0.51231	1.534000	0.49203	0.655000	0.94253	CGA	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254670.2		+	ENST00000220478.3	Nonsense_Mutation	SNP	15 : 51975574 - 51975574 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	652	90
SERTAD2	9792	broad.mit.edu	37	2	64863673	64863673	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64863673C>T	ENST00000313349.3	-	2	630	c.333G>A	c.(331-333)gcG>gcA	p.A111A	SERTAD2_ENST00000476805.2_5'UTR	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	111					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						AGGACGGGGACGCCAGGTGGC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	36	35			NA	NA	2		NA											NA				64863673		2203	4299	6502	SO:0001819	synonymous_variant			D50917	CCDS33210.1	2p15	2007-05-01			ENSG00000179833	ENSG00000179833	9792	9792			30784	protein-coding gene	gene with protein product	transcriptional regulator interacting with the PHS-bromodomain 2				NA	8590280, 11331592	Standard	NM_014755	NM_014755	NA	Approved	TRIP-Br2, KIAA0127, Sei-2	uc002sde.2	Q14140	OTTHUMG00000152678	ENST00000313349.3:c.333G>A	2.37:g.64863673C>T		NA	Q53TS2	37	CCDS33210.1																																																																																			SERTAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327322.2		-	ENST00000313349.3	Silent	SNP	2 : 64863673 - 64863673 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	295	86
OR2W3	343171	broad.mit.edu	37	1	248059536	248059536	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248059536C>A	ENST00000360358.3	+	1	648	c.648C>A	c.(646-648)ctC>ctA	p.L216L	OR2W3_ENST00000537741.1_Silent_p.L216L	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTATCCTGCTCTCTTACAGCT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													203	183	190			NA	NA	1		NA											NA				248059536		2203	4300	6503	SO:0001819	synonymous_variant			N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243	343171	343171		GPCR / Class A : Olfactory receptors	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P	NA	14983052	Standard	NM_001001957	NM_001001957	NA	Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.648C>A	1.37:g.248059536C>A		NA	Q6IF06|Q8NG86	37	CCDS31099.1																																																																																			OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096861.1		+	ENST00000360358.3	Silent	SNP	1 : 248059536 - 248059536 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	844	250
BCL11B	64919	broad.mit.edu	37	14	99641019	99641019	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99641019C>T	ENST00000345514.2	-	3	2207	c.1941G>A	c.(1939-1941)tcG>tcA	p.S647S	BCL11B_ENST00000357195.3_Silent_p.S718S|BCL11B_ENST00000443726.2_Silent_p.S524S	NM_001282238.1|NM_022898.1	NP_001269167.1|NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	718	Gly-rich.					nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TGAAGTGCCGCGACGCCGCGT	0.672		NA	T	TLX3	T-ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	0													22	20	21			NA	NA	14		NA											NA				99641019		2196	4293	6489	SO:0001819	synonymous_variant			AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152	64919	64919		Zinc fingers, C2H2-type	13222	protein-coding gene	gene with protein product		606558		ZNF856B	NA	11719382, 16950772	Standard	NM_138576	NM_138576	NA	Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000345514.2:c.1941G>A	14.37:g.99641019C>T		NA	Q9H162	37	CCDS9949.1																																																																																			BCL11B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000072333.2		-	ENST00000345514.2	Silent	SNP	14 : 99641019 - 99641019 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	140	31
RNF39	80352	broad.mit.edu	37	6	30038975	30038975	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30038975C>T	ENST00000244360.6	-	4	1273	c.1176G>A	c.(1174-1176)gcG>gcA	p.A392A	RNF39_ENST00000376751.3_Silent_p.A326A	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	392	B30.2/SPRY.					cytoplasm	zinc ion binding				NA						GGGGGCCAGGCGCCTGGAAGG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(8;188 360 1520 20207 31481)							NA				0													15	11	13			NA	NA	6		NA											NA				30038975		1496	2697	4193	SO:0001819	synonymous_variant			AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618	80352	80352		RING-type (C3HC4) zinc fingers	18064	protein-coding gene	gene with protein product		607524			NA	11130983, 11716498	Standard	NM_170769	NM_170769	NA	Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.1176G>A	6.37:g.30038975C>T		NA	A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	37	CCDS4673.1																																																																																			RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076625.3		-	ENST00000244360.6	Silent	SNP	6 : 30038975 - 30038975 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	92	22
EXOSC5	56915	broad.mit.edu	37	19	41892608	41892608	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41892608G>A	ENST00000221233.4	-	6	788	c.638C>T	c.(637-639)gCc>gTc	p.A213V	BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron|EXOSC5_ENST00000596905.1_Missense_Mutation_p.A175V|CTC-435M10.3_ENST00000540732.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	213					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						AGCGGCCTGGGCCGCAGCCAG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	24	25			NA	NA	19		NA											NA				41892608		2199	4299	6498	SO:0001583	missense			AF285785	CCDS12580.1	19q13.1	2008-02-05				ENSG00000077348	56915	56915			24662	protein-coding gene	gene with protein product	exosome component Rrp46	606492			NA	11110791, 11812149	Standard	NM_020158	NM_020158	NA	Approved	hRrp46p, Rrp46p, RRP46, RRP41B, MGC12901, p12B	uc002oqo.3	Q9NQT4		ENST00000221233.4:c.638C>T	19.37:g.41892608G>A	ENSP00000221233:p.Ala213Val	NA	Q32Q81|Q8NG16|Q96I89	37	CCDS12580.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677115	0.88445	.	.	ENSG00000077348	ENST00000221233	T	0.62788	0.0	5.08	5.08	0.68730	Exoribonuclease, phosphorolytic domain 2 (2);	0.106321	0.64402	D	0.000005	T	0.76673	0.4020	M	0.76328	2.33	0.47778	D	0.999518	D	0.76494	0.999	P	0.62740	0.906	T	0.77755	-0.2469	10	0.49607	T	0.09	-27.7716	16.008	0.80377	0.0:0.0:1.0:0.0	.	213	Q9NQT4	EXOS5_HUMAN	V	213	ENSP00000221233:A213V	ENSP00000221233:A213V	A	-	2	0	EXOSC5	46584448	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	4.673000	0.61604	2.623000	0.88846	0.655000	0.94253	GCC	EXOSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463492.1		-	ENST00000221233.4	Missense_Mutation	SNP	19 : 41892608 - 41892608 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	71	6
FBXO46	23403	broad.mit.edu	37	19	46216211	46216211	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46216211C>T	ENST00000317683.3	-	2	676	c.543G>A	c.(541-543)caG>caA	p.Q181Q		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	181							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GGGCTGCCCGCTGTTCCACCA	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													9	12	11			NA	NA	19		NA											NA				46216211		2003	4132	6135	SO:0001819	synonymous_variant			BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051	23403	23403		F-boxes /  other	25069	protein-coding gene	gene with protein product		609117	F-box only protein 34-like	FBXO34L	NA	9585442	Standard	XM_371179	NM_001080469	NA	Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.543G>A	19.37:g.46216211C>T		NA		37	CCDS46116.1																																																																																			FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459661.1		-	ENST00000317683.3	Silent	SNP	19 : 46216211 - 46216211 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	80	15
ARHGAP35	2909	broad.mit.edu	37	19	47423229	47423229	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47423229C>T	ENST00000404338.3	+	1	1297	c.1297C>T	c.(1297-1299)Cga>Tga	p.R433*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	433	FF 3.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	p.R433*(2)			NA						AGTTGAGATGCGAAGGGCGTT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Nonsense(2)	endometrium(2)											84	80	82			NA	NA	19		NA											NA				47423229		1886	4099	5985	SO:0001587	stop_gained			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007	2909	2909		Rho GTPase activating proteins	4591	protein-coding gene	gene with protein product		605277	glucocorticoid receptor DNA binding factor 1	GRLF1	NA	1894621, 20675588	Standard	NM_004491	NM_004491	NA	Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.1297C>T	19.37:g.47423229C>T	ENSP00000385720:p.Arg433*	NA	A7E2A4|Q14452|Q9C0E1	37	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011903	0.93346	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	.	.	.	6.03	-3.54	0.04653	.	0.091446	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-16.3658	20.4143	0.99026	0.3296:0.6704:0.0:0.0	.	.	.	.	X	433	.	ENSP00000324820:R433X	R	+	1	2	ARHGAP35	52115069	0.844000	0.29557	0.729000	0.30791	0.897000	0.52465	0.082000	0.14847	-0.494000	0.06669	-0.262000	0.10625	CGA	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466652.1		+	ENST00000404338.3	Nonsense_Mutation	SNP	19 : 47423229 - 47423229 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	476	87
CYP11B1	1584	broad.mit.edu	37	8	143956537	143956537	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143956537G>A	ENST00000377675.3	-	10	1453	c.1447C>T	c.(1447-1449)Cgc>Tgc	p.R483C	CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000292427.4_Missense_Mutation_p.R412C			P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	412					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.R412C(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GCGGGGTTGCGACCCAGAGAG	0.627		NA							Familial Hyperaldosteronism type I					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	skin(1)											94	90	91			NA	NA	8		NA											NA				143956537		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	NA	1584	1.14.15.4	Cytochrome P450s	2591	protein-coding gene	gene with protein product	steroid 11-beta-monooxygenase	610613	cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1	CYP11B	NA	1303253	Standard		XM_005250807	NA	Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000377675.3:c.1447C>T	8.37:g.143956537G>A	ENSP00000366903:p.Arg483Cys	NA	Q14095|Q4VAQ8|Q9UML2	37		.	.	.	.	.	.	.	.	.	.	.	13.07	2.126496	0.37533	.	.	ENSG00000160882	ENST00000519285;ENST00000292427;ENST00000377675	T;T;T	0.74632	1.04;-0.86;-0.86	4.22	4.22	0.49857	.	0.000000	0.46442	D	0.000281	D	0.88672	0.6500	M	0.92122	3.275	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.992;0.996;0.963	D	0.91324	0.5084	10	0.66056	D	0.02	.	14.4165	0.67153	0.0:0.0:1.0:0.0	.	483;412;412	Q4VAR0;Q8TDD0;P15538	.;.;C11B1_HUMAN	C	90;412;483	ENSP00000430144:R90C;ENSP00000292427:R412C;ENSP00000366903:R483C	ENSP00000292427:R412C	R	-	1	0	CYP11B1	143953539	1.000000	0.71417	0.440000	0.26846	0.064000	0.16182	3.671000	0.54576	2.059000	0.61396	0.561000	0.74099	CGC	CYP11B1-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000379655.1		-	ENST00000377675.3	Missense_Mutation	SNP	8 : 143956537 - 143956537 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	560	102
PPP3CA	5530	broad.mit.edu	37	4	101947056	101947056	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:101947056T>C	ENST00000394854.3	-	14	2215	c.1532A>G	c.(1531-1533)gAc>gGc	p.D511G	PPP3CA_ENST00000507176.1_Missense_Mutation_p.D413G|PPP3CA_ENST00000394853.4_Missense_Mutation_p.D501G|PPP3CA_ENST00000512215.1_Missense_Mutation_p.D279G|PPP3CA_ENST00000523694.2_Missense_Mutation_p.D444G|PPP3CA_ENST00000323055.6_Missense_Mutation_p.D459G	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	511					protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		GCCATTGCTGTCCGTGCCGTT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													275	254	261			NA	NA	4		NA											NA				101947056		2203	4300	6503	SO:0001583	missense				CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	5530	5530	3.1.3.16	Serine/threonine phosphatases / Protein phosphatase, catalytic subunits	9314	protein-coding gene	gene with protein product	calcineurin A alpha, protein phosphatase 2B, catalytic subunit, alpha isoform	114105	protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha), protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform	CALN, CALNA	NA	2848250, 1659808	Standard	NM_000944	NM_000944	NA	Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.1532A>G	4.37:g.101947056T>C	ENSP00000378323:p.Asp511Gly	NA	A8K3B7|B5BUA2|Q8TAW9	37	CCDS34037.1	.	.	.	.	.	.	.	.	.	.	T	12.83	2.055917	0.36277	.	.	ENSG00000138814	ENST00000512215;ENST00000394854;ENST00000323055;ENST00000394853;ENST00000507176;ENST00000523694	T;T;T;T;T;T	0.47528	0.84;2.42;2.37;2.41;2.18;2.44	6.06	6.06	0.98353	.	0.055071	0.64402	D	0.000001	T	0.32526	0.0832	N	0.08118	0	0.80722	D	1	P;P;P;P;B;B	0.40534	0.455;0.72;0.455;0.59;0.247;0.247	B;B;B;B;B;B	0.43536	0.114;0.423;0.163;0.228;0.125;0.163	T	0.16958	-1.0385	10	0.09843	T	0.71	-11.4256	16.6154	0.84909	0.0:0.0:0.0:1.0	.	511;279;459;501;413;444	Q08209;A8W6Z8;A8W6Z7;Q08209-2;E7ETC2;A1A441	PP2BA_HUMAN;.;.;.;.;.	G	279;511;459;501;413;444	ENSP00000422781:D279G;ENSP00000378323:D511G;ENSP00000320580:D459G;ENSP00000378322:D501G;ENSP00000422990:D413G;ENSP00000429350:D444G	ENSP00000320580:D459G	D	-	2	0	PPP3CA	102166079	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.748000	0.85085	2.315000	0.78130	0.533000	0.62120	GAC	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258379.2		-	ENST00000394854.3	Missense_Mutation	SNP	4 : 101947056 - 101947056 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1082	191
LIN54	132660	broad.mit.edu	37	4	83861050	83861050	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83861050C>T	ENST00000340417.3	-	6	1611	c.1234G>A	c.(1234-1236)Gtc>Atc	p.V412I	LIN54_ENST00000510557.1_Missense_Mutation_p.V191I|LIN54_ENST00000442461.2_Missense_Mutation_p.V191I|LIN54_ENST00000506560.1_Missense_Mutation_p.V323I|LIN54_ENST00000395283.2_Missense_Mutation_p.V323I|LIN54_ENST00000446851.2_Missense_Mutation_p.V191I|LIN54_ENST00000505397.1_Missense_Mutation_p.V412I|LIN54_ENST00000395282.2_3'UTR	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	412					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				ACTTGTTTGACAGCCTGAGCT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	139	136			NA	NA	4		NA											NA				83861050		2203	4300	6503	SO:0001583	missense			BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308	132660	132660			25397	protein-coding gene	gene with protein product	CXC domain containing 1	613367	lin-54 homolog (C. elegans)		NA	21498570	Standard	NM_194282	XM_005262749	NA	Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.1234G>A	4.37:g.83861050C>T	ENSP00000341947:p.Val412Ile	NA	Q32M68|Q32M69|Q6N071|Q76B60	37	CCDS3599.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023735	0.54683	.	.	ENSG00000189308	ENST00000340417;ENST00000395283;ENST00000442461;ENST00000446851;ENST00000510557;ENST00000506560;ENST00000505397	.	.	.	6.08	6.08	0.98989	.	0.130770	0.56097	D	0.000021	T	0.40743	0.1129	N	0.08118	0	0.80722	D	1	B;B;B	0.29862	0.023;0.012;0.259	B;B;B	0.22386	0.012;0.004;0.039	T	0.25502	-1.0130	9	0.35671	T	0.21	-13.0846	20.6721	0.99693	0.0:1.0:0.0:0.0	.	323;284;412	Q6MZP7-2;Q7Z3G2;Q6MZP7	.;.;LIN54_HUMAN	I	412;323;191;191;191;323;412	.	ENSP00000341947:V412I	V	-	1	0	LIN54	84080074	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	4.576000	0.60915	2.894000	0.99253	0.591000	0.81541	GTC	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252626.2		-	ENST00000340417.3	Missense_Mutation	SNP	4 : 83861050 - 83861050 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	836	168
NHLRC2	374354	broad.mit.edu	37	10	115636517	115636517	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115636517A>G	ENST00000369301.3	+	3	781	c.569A>G	c.(568-570)tAt>tGt	p.Y190C		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	190	Thioredoxin.				cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		TTATTTTTATATACTTCAATT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	59	57			NA	NA	10		NA											NA				115636517		2203	4300	6503	SO:0001583	missense			AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865	374354	374354			24731	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_198514	NM_198514	NA	Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.569A>G	10.37:g.115636517A>G	ENSP00000358307:p.Tyr190Cys	NA	Q8N1H1|Q8N5A6	37	CCDS7585.1	.	.	.	.	.	.	.	.	.	.	A	17.32	3.359605	0.61403	.	.	ENSG00000196865	ENST00000369301	T	0.46063	0.88	5.61	2.91	0.33838	Thioredoxin-like fold (2);	0.057252	0.64402	D	0.000001	T	0.39489	0.1080	L	0.41492	1.28	0.43819	D	0.996381	D	0.62365	0.991	P	0.50231	0.635	T	0.16689	-1.0394	10	0.46703	T	0.11	-11.2129	8.6969	0.34301	0.5125:0.0:0.0:0.4875	.	190	Q8NBF2	NHLC2_HUMAN	C	190	ENSP00000358307:Y190C	ENSP00000358307:Y190C	Y	+	2	0	NHLRC2	115626507	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.301000	0.65727	1.032000	0.39892	-0.341000	0.08007	TAT	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050446.1		+	ENST00000369301.3	Missense_Mutation	SNP	10 : 115636517 - 115636517 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	503	99
HELZ	9931	broad.mit.edu	37	17	65162603	65162603	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65162603C>T	ENST00000358691.5	-	15	2052	c.1886G>A	c.(1885-1887)aGt>aAt	p.S629N	HELZ_ENST00000580168.1_Missense_Mutation_p.S629N	NM_014877.3	NP_055692			helicase with zinc finger	NA										NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CCTGTTAGGACTCCATGGTAT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	129	133			NA	NA	17		NA											NA				65162603		1851	4112	5963	SO:0001583	missense			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265	9931	9931		Zinc fingers, CCCH-type domain containing	16878	protein-coding gene	gene with protein product	down-regulated in human cancers	606699			NA	10471385, 12691822	Standard	NM_014877	NM_014877	NA	Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.1886G>A	17.37:g.65162603C>T	ENSP00000351524:p.Ser629Asn	NA		37	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.637614	0.47049	.	.	ENSG00000198265	ENST00000358691	D	0.84223	-1.82	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.76673	0.4020	N	0.17082	0.46	0.80722	D	1	B;B	0.31837	0.342;0.288	B;B	0.28709	0.093;0.076	T	0.74112	-0.3770	10	0.36615	T	0.2	-16.2585	19.6559	0.95842	0.0:1.0:0.0:0.0	.	629;629	B7ZLW2;P42694	.;HELZ_HUMAN	N	629	ENSP00000351524:S629N	ENSP00000351524:S629N	S	-	2	0	HELZ	62593065	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	7.358000	0.79466	2.657000	0.90304	0.491000	0.48974	AGT	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447068.1		-	ENST00000358691.5	Missense_Mutation	SNP	17 : 65162603 - 65162603 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	463	86
NUTM2F	54754	broad.mit.edu	37	9	97081272	97081272	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:97081272C>A	ENST00000253262.4	-	7	1766	c.1746G>T	c.(1744-1746)caG>caT	p.Q582H	NUTM2F_ENST00000335456.7_Intron|NUTM2F_ENST00000341207.4_Missense_Mutation_p.Q567H	NM_017561.1	NP_060031.1			NUT family member 2F	NA											NA						TGGGGGAATCCTGACATCCCA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	53	55			NA	NA	9		NA											NA				97081272		1999	4162	6161	SO:0001583	missense				CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950	54754	54754			23450	protein-coding gene	gene with protein product			family with sequence similarity 22, member F	FAM22F	NA		Standard	NM_017561	NM_017561	NA	Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.1746G>T	9.37:g.97081272C>A	ENSP00000253262:p.Gln582His	NA		37	CCDS47994.1	.	.	.	.	.	.	.	.	.	.	C	9.702	1.154686	0.21371	.	.	ENSG00000130950	ENST00000253262;ENST00000341207;ENST00000375347	T;T	0.16324	2.35;2.35	1.52	-0.556	0.11803	.	1.777890	0.02932	N	0.139294	T	0.33265	0.0857	L	0.61218	1.895	0.09310	N	1	D	0.67145	0.996	D	0.64042	0.921	T	0.12837	-1.0532	10	0.44086	T	0.13	.	4.1144	0.10074	0.0:0.57:0.0:0.43	.	582	A1L443	FA22F_HUMAN	H	582;567;416	ENSP00000253262:Q582H;ENSP00000343865:Q567H	ENSP00000253262:Q582H	Q	-	3	2	FAM22F	96121093	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.708000	0.05035	-0.139000	0.11414	-0.391000	0.06502	CAG	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053173.2		-	ENST00000253262.4	Missense_Mutation	SNP	9 : 97081272 - 97081272 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	51
XDH	7498	broad.mit.edu	37	2	31571782	31571782	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31571782C>T	ENST00000379416.3	-	27	3082	c.3034G>A	c.(3034-3036)Gtt>Att	p.V1012I		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1012					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AGAAAAGGAACTGTAAAGCTT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(66;682 1445 30109 40147)							NA				0													102	102	102			NA	NA	2		NA											NA				31571782		2203	4300	6503	SO:0001583	missense			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	7498	7498	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	xanthene dehydrogenase		NA	8224915	Standard	NM_000379	NM_000379	NA	Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3034G>A	2.37:g.31571782C>T	ENSP00000368727:p.Val1012Ile	NA	Q16681|Q16712|Q4PJ16	37	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	8.416	0.845221	0.16963	.	.	ENSG00000158125	ENST00000379416	T	0.43294	0.95	5.85	-11.0	0.00169	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.594745	0.19170	N	0.120946	T	0.25865	0.0630	L	0.47016	1.485	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.11494	-1.0585	10	0.16896	T	0.51	.	14.4795	0.67570	0.0:0.2955:0.5407:0.1638	.	1012	P47989	XDH_HUMAN	I	1012	ENSP00000368727:V1012I	ENSP00000368727:V1012I	V	-	1	0	XDH	31425286	0.000000	0.05858	0.000000	0.03702	0.847000	0.48162	-4.438000	0.00234	-2.268000	0.00685	-3.099000	0.00064	GTT	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216840.1		-	ENST00000379416.3	Missense_Mutation	SNP	2 : 31571782 - 31571782 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	252	65
GCC1	79571	broad.mit.edu	37	7	127223015	127223015	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127223015C>A	ENST00000321407.2	-	2	1805	c.1381G>T	c.(1381-1383)Gac>Tac	p.D461Y	GCC1_ENST00000497650.1_5'UTR	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	461						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ATCTCCAGGTCACAGAGCTTC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	102	101			NA	NA	7		NA											NA				127223015		2203	4300	6503	SO:0001583	missense			AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562	79571	79571			19095	protein-coding gene	gene with protein product		607418	golgi coiled-coil 1		NA	10209125	Standard	NM_024523	NM_024523	NA	Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1381G>T	7.37:g.127223015C>A	ENSP00000318821:p.Asp461Tyr	NA	Q9H6N7	37	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.582210	0.46006	.	.	ENSG00000179562	ENST00000321407	T	0.12672	2.66	5.12	2.34	0.29019	.	0.224065	0.47852	D	0.000209	T	0.10637	0.0260	L	0.29908	0.895	0.40906	D	0.984191	P	0.44195	0.828	B	0.42653	0.394	T	0.09662	-1.0664	10	0.59425	D	0.04	-14.9262	7.7853	0.29089	0.0:0.735:0.0:0.265	.	461	Q96CN9	GCC1_HUMAN	Y	461	ENSP00000318821:D461Y	ENSP00000318821:D461Y	D	-	1	0	GCC1	127010251	0.233000	0.23772	0.980000	0.43619	0.992000	0.81027	0.619000	0.24388	0.278000	0.22164	0.655000	0.94253	GAC	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059911.3		-	ENST00000321407.2	Missense_Mutation	SNP	7 : 127223015 - 127223015 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	710	136
NR2C1	7181	broad.mit.edu	37	12	95453692	95453692	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95453692G>A	ENST00000333003.5	-	4	684	c.354C>T	c.(352-354)gaC>gaT	p.D118D	NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000330677.7_Silent_p.D118D|NR2C1_ENST00000393101.3_Silent_p.D118D	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	118	Required for interaction with KAT2B (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						CTGATGCTTTGTCTCCACATA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	62	62			NA	NA	12		NA											NA				95453692		2203	4298	6501	SO:0001819	synonymous_variant			M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798	7181	7181		Nuclear hormone receptors	7971	protein-coding gene	gene with protein product		601529		TR2	NA	2597158	Standard	NM_003297	NM_001032287	NA	Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.354C>T	12.37:g.95453692G>A		NA	A8K5K4|Q15625|Q15626	37	CCDS9051.1																																																																																			NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407565.2		-	ENST00000333003.5	Silent	SNP	12 : 95453692 - 95453692 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	245	33
DUSP27	92235	broad.mit.edu	37	1	167097083	167097083	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167097083G>T	ENST00000361200.2	+	6	2881	c.2715G>T	c.(2713-2715)caG>caT	p.Q905H	DUSP27_ENST00000271385.5_Missense_Mutation_p.Q905H|DUSP27_ENST00000443333.1_Missense_Mutation_p.Q905H|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	905	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GTAATTCCCAGAAACCTGAAA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	77	80			NA	NA	1		NA											NA				167097083		2203	4300	6503	SO:0001583	missense			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842	92235	92235			25034	protein-coding gene	gene with protein product					NA		Standard	NM_001080426	NM_001080426	NA	Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2715G>T	1.37:g.167097083G>T	ENSP00000354483:p.Gln905His	NA	A0AUM4|Q9C074	37	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	7.181	0.589602	0.13812	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03358	3.96;3.96;3.96	5.25	-5.41	0.02648	.	1.287870	0.05395	N	0.539668	T	0.00906	0.0030	L	0.36672	1.1	0.09310	N	0.999998	B	0.10296	0.003	B	0.06405	0.002	T	0.49570	-0.8926	10	0.41790	T	0.15	-6.6321	3.444	0.07474	0.1444:0.1986:0.4558:0.2012	.	905	Q5VZP5	DUS27_HUMAN	H	905	ENSP00000354483:Q905H;ENSP00000271385:Q905H;ENSP00000404874:Q905H	ENSP00000271385:Q905H	Q	+	3	2	DUSP27	165363707	0.001000	0.12720	0.965000	0.40720	0.765000	0.43378	-1.289000	0.02780	-0.532000	0.06332	-0.323000	0.08544	CAG	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083244.1		+	ENST00000361200.2	Missense_Mutation	SNP	1 : 167097083 - 167097083 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	200	55
FAM78B	149297	broad.mit.edu	37	1	166039800	166039800	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166039800C>T	ENST00000338353.3	-	3	1053	c.464G>A	c.(463-465)aGc>aAc	p.S155N	FAM78B_ENST00000354422.3_Missense_Mutation_p.S155N			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	155										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					TGGCACATTGCTGTCACTCAC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													224	195	205			NA	NA	1		NA											NA				166039800		2203	4300	6503	SO:0001583	missense			AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859	149297	149297			13495	protein-coding gene	gene with protein product					NA		Standard	NM_001017961	NM_001017961	NA	Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.464G>A	1.37:g.166039800C>T	ENSP00000339681:p.Ser155Asn	NA	B7Z693	37	CCDS30931.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.808974	0.31961	.	.	ENSG00000188859	ENST00000354422;ENST00000338353	.	.	.	5.84	4.93	0.64822	.	0.115191	0.85682	N	0.000000	T	0.33673	0.0871	L	0.59436	1.845	0.47183	D	0.999346	B	0.12013	0.005	B	0.08055	0.003	T	0.23726	-1.0180	8	0.16896	T	0.51	-15.4965	12.9119	0.58184	0.0:0.9216:0.0:0.0784	.	155	Q5VT40	FA78B_HUMAN	N	155	.	ENSP00000339681:S155N	S	-	2	0	FAM78B	164306424	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	3.999000	0.57031	1.472000	0.48140	-0.150000	0.13652	AGC	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343108.1		-	ENST00000338353.3	Missense_Mutation	SNP	1 : 166039800 - 166039800 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	997	263
LMAN2	10960	broad.mit.edu	37	5	176778195	176778195	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176778195C>T	ENST00000515209.1	-	2	293	c.294G>A	c.(292-294)gaG>gaA	p.E98E	LMAN2_ENST00000303127.7_Silent_p.E98E|LMAN2_ENST00000506310.1_5'UTR			Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	98	L-type lectin-like.				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGATAGAGCCCTCTTTGCTGC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	122	125			NA	NA	5		NA											NA				176778195		2203	4300	6503	SO:0001819	synonymous_variant			U10362	CCDS4417.1	5q35	2008-02-05		2003-07-04	ENSG00000169223	ENSG00000169223	10960	10960			16986	protein-coding gene	gene with protein product		609551	chromosome 5 open reading frame 8	C5orf8	NA	12609988	Standard	NM_006816	NM_006816	NA	Approved	GP36B, VIP36	uc003mge.3	Q12907	OTTHUMG00000130860	ENST00000515209.1:c.294G>A	5.37:g.176778195C>T		NA	Q53HH1	37																																																																																				LMAN2-008	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000372700.1		-	ENST00000515209.1	Silent	SNP	5 : 176778195 - 176778195 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	917	80
SORCS3	22986	broad.mit.edu	37	10	106959834	106959834	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106959834G>A	ENST00000369701.3	+	15	2314	c.2087G>A	c.(2086-2088)tGc>tAc	p.C696Y	SORCS3_ENST00000369699.4_5'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	696						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGCCGGCATTGCACCAAGGAG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(116;1497 1690 7108 13108 14106)							NA				0													130	118	122			NA	NA	10		NA											NA				106959834		2203	4300	6503	SO:0001583	missense			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395	22986	22986			16699	protein-coding gene	gene with protein product		606285			NA	11499680	Standard	NM_014978	NM_014978	NA	Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2087G>A	10.37:g.106959834G>A	ENSP00000358715:p.Cys696Tyr	NA	Q5VXF9|Q9NQJ2	37	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889213	0.91889	.	.	ENSG00000156395	ENST00000369701	T	0.44482	0.92	6.07	6.07	0.98685	VPS10 (1);	0.096778	0.64402	D	0.000001	T	0.75428	0.3848	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.80341	-0.1423	9	.	.	.	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	696	Q9UPU3	SORC3_HUMAN	Y	696	ENSP00000358715:C696Y	.	C	+	2	0	SORCS3	106949824	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.388000	0.97237	2.890000	0.99128	0.650000	0.86243	TGC	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050221.1		+	ENST00000369701.3	Missense_Mutation	SNP	10 : 106959834 - 106959834 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	602	108
BCLAF1	9774	broad.mit.edu	37	6	136590614	136590614	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136590614G>A	ENST00000531224.1	-	9	2432	c.2180C>T	c.(2179-2181)cCa>cTa	p.P727L	BCLAF1_ENST00000527536.1_Missense_Mutation_p.P727L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.P554L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.P725L|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000392348.2_Missense_Mutation_p.P725L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.P725L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	727					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GTAATCTTTTGGAGTTTTTTC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(142;1534 1789 5427 7063 28491)							NA				0													110	105	107			NA	NA	6		NA											NA				136590614		2203	4299	6502	SO:0001583	missense			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363	9774	9774			16863	protein-coding gene	gene with protein product		612588			NA	8724849, 10330179	Standard	NM_014739	NM_001077440	NA	Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2180C>T	6.37:g.136590614G>A	ENSP00000435210:p.Pro727Leu	NA	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	37	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814670	0.32053	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348	T;T;T;T;T;T	0.14640	4.35;4.35;4.35;2.49;4.35;4.35	4.82	3.89	0.44902	.	0.582086	0.15264	N	0.271612	T	0.04543	0.0124	N	0.19112	0.55	0.80722	D	1	B;B;B;B	0.21905	0.027;0.062;0.027;0.004	B;B;B;B	0.16289	0.006;0.015;0.006;0.006	T	0.16988	-1.0384	10	0.56958	D	0.05	0.3182	12.8904	0.58068	0.0:0.0:0.7217:0.2783	.	725;725;727;554	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	L	727;725;727;554;725;725	ENSP00000435210:P727L;ENSP00000229446:P725L;ENSP00000435441:P727L;ENSP00000436501:P554L;ENSP00000434826:P725L;ENSP00000376159:P725L	ENSP00000229446:P725L	P	-	2	0	BCLAF1	136632307	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.059000	0.57470	2.393000	0.81446	0.591000	0.81541	CCA	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042375.2		-	ENST00000531224.1	Missense_Mutation	SNP	6 : 136590614 - 136590614 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	465	23
RFX6	222546	broad.mit.edu	37	6	117248279	117248279	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117248279G>T	ENST00000332958.2	+	17	1991	c.1975G>T	c.(1975-1977)Gga>Tga	p.G659*		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	659					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CATTAACCAAGGACCAATGGC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	129	131			NA	NA	6		NA											NA				117248279		2203	4300	6503	SO:0001587	stop_gained			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002	222546	222546			21478	protein-coding gene	gene with protein product		612659	regulatory factor X domain containing 1	RFXDC1	NA		Standard	NM_173560	NM_173560	NA	Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1975G>T	6.37:g.117248279G>T	ENSP00000332208:p.Gly659*	NA	Q5T6B3	37	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	G	38	6.762283	0.97821	.	.	ENSG00000185002	ENST00000332958	.	.	.	5.68	5.68	0.88126	.	0.342302	0.32444	N	0.006086	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-14.095	19.7821	0.96420	0.0:0.0:1.0:0.0	.	.	.	.	X	659	.	ENSP00000332208:G659X	G	+	1	0	RFX6	117354972	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.142000	0.77339	2.682000	0.91365	0.655000	0.94253	GGA	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041970.2		+	ENST00000332958.2	Nonsense_Mutation	SNP	6 : 117248279 - 117248279 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	749	126
DCDC1	341019	broad.mit.edu	37	11	30914541	30914541	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30914541G>A	ENST00000597505.1	-	34	4896	c.4897C>T	c.(4897-4899)Cac>Tac	p.H1633Y	DCDC1_ENST00000406071.2_Missense_Mutation_p.H371Y			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TCAGAAAGGTGTGCCTGTCAA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	113	115			NA	NA	11		NA											NA				30914541		1843	4086	5929	SO:0001583	missense			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959	341019	341019			20625	protein-coding gene	gene with protein product		608062			NA	12820024	Standard	NM_181807	NM_181807	NA	Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.4897C>T	11.37:g.30914541G>A	ENSP00000472625:p.His1633Tyr	NA	A6PVL6	37		.	.	.	.	.	.	.	.	.	.	G	12.80	2.046917	0.36085	.	.	ENSG00000170959	ENST00000406071	.	.	.	5.94	5.03	0.67393	.	.	.	.	.	T	0.57548	0.2061	L	0.35854	1.095	0.80722	D	1	.	.	.	.	.	.	T	0.59506	-0.7442	6	0.52906	T	0.07	.	12.2274	0.54468	0.079:0.0:0.921:0.0	.	.	.	.	Y	371	.	ENSP00000385936:H371Y	H	-	1	0	DCDC5	30871117	0.052000	0.20516	0.513000	0.27749	0.668000	0.39293	1.766000	0.38491	1.533000	0.49186	0.650000	0.86243	CAC	DCDC1-010	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000463167.1		-	ENST00000597505.1	Missense_Mutation	SNP	11 : 30914541 - 30914541 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	452	93
NLRP8	126205	broad.mit.edu	37	19	56477586	56477586	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56477586C>T	ENST00000291971.3	+	5	2292	c.2221C>T	c.(2221-2223)Cgt>Tgt	p.R741C	NLRP8_ENST00000590542.1_Missense_Mutation_p.R741C	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	741						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CAGCCTAAGGCGTGTGAATAG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	147	154			NA	NA	19		NA											NA				56477586		2203	4300	6503	SO:0001583	missense			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709	126205	126205		Nucleotide-binding domain and leucine rich repeat containing	22940	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8	609659	NACHT, leucine rich repeat and PYD containing 8	NALP8	NA	12563287	Standard	NM_176811	NM_176811	NA	Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2221C>T	19.37:g.56477586C>T	ENSP00000291971:p.Arg741Cys	NA	Q7RTR4	37	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	C	3.988	-0.005020	0.07773	.	.	ENSG00000179709	ENST00000291971	T	0.74526	-0.85	1.82	0.719	0.18208	.	.	.	.	.	T	0.62901	0.2466	L	0.46741	1.465	0.09310	N	1	B;B	0.13145	0.007;0.003	B;B	0.15484	0.013;0.001	T	0.51132	-0.8744	9	0.37606	T	0.19	.	5.4535	0.16578	0.3284:0.6716:0.0:0.0	.	741;741	Q86W28-2;Q86W28	.;NALP8_HUMAN	C	741	ENSP00000291971:R741C	ENSP00000291971:R741C	R	+	1	0	NLRP8	61169398	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.131000	0.10482	0.296000	0.22592	0.557000	0.71058	CGT	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457462.1		+	ENST00000291971.3	Missense_Mutation	SNP	19 : 56477586 - 56477586 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	666	114
HNRNPH3	3189	broad.mit.edu	37	10	70101600	70101600	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70101600G>A	ENST00000265866.7	+	9	1121	c.956G>A	c.(955-957)gGt>gAt	p.G319D	HNRNPH3_ENST00000354695.5_Missense_Mutation_p.G304D|HNRNPH3_ENST00000469172.1_3'UTR|HNRNPH3_ENST00000441000.2_Missense_Mutation_p.G211D	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)	319	Gly-rich.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						GATGGTTTGGGTGGTTATGGT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													184	157	166			NA	NA	10		NA											NA				70101600		2203	4300	6503	SO:0001583	missense				CCDS7278.1, CCDS7279.1	10q22	2013-02-12		2008-04-18	ENSG00000096746	ENSG00000096746	3189	3189		RNA binding motif (RRM) containing	5043	protein-coding gene	gene with protein product		602324		HNRPH3	NA	8999868	Standard		NM_021644	NA	Approved	2H9	uc001jnw.4	P31942	OTTHUMG00000018349	ENST00000265866.7:c.956G>A	10.37:g.70101600G>A	ENSP00000265866:p.Gly319Asp	NA	A8K682|B3KRE1|Q9BSX1|Q9NP53|Q9NP96|Q9NPA7|Q9NPI4|Q9UFU4|Q9Y4J5	37	CCDS7278.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741177	0.49151	.	.	ENSG00000096746	ENST00000265866;ENST00000441000;ENST00000354695	T;T;T	0.15487	2.78;2.42;2.58	5.66	5.66	0.87406	.	0.096984	0.64402	D	0.000001	T	0.39332	0.1074	L	0.50333	1.59	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.998;0.996;0.998	T	0.02208	-1.1195	10	0.46703	T	0.11	.	19.7628	0.96329	0.0:0.0:1.0:0.0	.	211;304;319	B4DHY1;P31942-2;P31942	.;.;HNRH3_HUMAN	D	319;211;304	ENSP00000265866:G319D;ENSP00000409869:G211D;ENSP00000346726:G304D	ENSP00000265866:G319D	G	+	2	0	HNRNPH3	69771606	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.188000	0.89710	2.653000	0.90120	0.563000	0.77884	GGT	HNRNPH3-012	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090165.1		+	ENST00000265866.7	Missense_Mutation	SNP	10 : 70101600 - 70101600 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	476	82
RP11-219A15.1	0	broad.mit.edu	37	17	16612399	16612399	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16612399G>A	ENST00000448331.3	+	5	1168	c.1028G>A	c.(1027-1029)gGt>gAt	p.G343D	CCDC144A_ENST00000456009.1_Intron|CCDC144A_ENST00000360524.8_Missense_Mutation_p.G343D|CCDC144A_ENST00000443444.2_Missense_Mutation_p.G343D|CCDC144A_ENST00000399273.1_Missense_Mutation_p.G343D|CCDC144A_ENST00000340621.5_Missense_Mutation_p.G342D						NA											NA						AACATACCTGGTTGTGAGGAA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	33	33			NA	NA	17		NA											NA				16612399		1804	4040	5844	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000448331.3:c.1028G>A	17.37:g.16612399G>A	ENSP00000440655:p.Gly343Asp	NA		37		.	.	.	.	.	.	.	.	.	.	.	2.033	-0.422021	0.04734	.	.	ENSG00000170160	ENST00000340621;ENST00000399273;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000360495	T;T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24;2.24	1.26	-0.0891	0.13670	.	.	.	.	.	T	0.08891	0.0220	N	0.14661	0.345	0.09310	N	1	D	0.59357	0.985	B	0.43728	0.429	T	0.22836	-1.0205	8	.	.	.	.	4.2586	0.10730	0.7666:0.0:0.2334:0.0	.	343	A2RUR9	C144A_HUMAN	D	342;343;343;343;343;343	ENSP00000344740:G342D;ENSP00000382215:G343D;ENSP00000439262:G343D;ENSP00000440655:G343D;ENSP00000353717:G343D;ENSP00000353685:G343D	.	G	+	2	0	CCDC144A	16553124	0.011000	0.17503	0.285000	0.24819	0.113000	0.19764	0.692000	0.25482	-0.236000	0.09753	0.175000	0.17021	GGT	RP11-219A15.1-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000445382.1		+	ENST00000448331.3	Missense_Mutation	SNP	17 : 16612399 - 16612399 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	309	63
CCS	9973	broad.mit.edu	37	11	66366974	66366974	+	Missense_Mutation	SNP	G	G	A	rs149989199	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66366974G>A	ENST00000533244.1	+	4	736	c.295G>A	c.(295-297)Gtg>Atg	p.V99M	CCS_ENST00000310190.4_Missense_Mutation_p.V80M	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	99	Superoxide dismutase-like.				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						GCCTGGCACCGTGCAGGGGGT	0.632		NA											G	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	LOWCOV	NA	NA	0.0029	SNP								NA				0								G	MET/VAL	3,4397	6.2+/-15.9	0,3,2197	25	26	25		295	4.3	0.9	11	dbSNP_134	25	0,8590		0,0,4295	yes	missense	CCS	NM_005125.1	21	0,3,6492	AA,AG,GG	NA	0.0,0.0682,0.0231	probably-damaging	99/275	66366974	3,12987	2200	4295	6495	SO:0001583	missense			AF002210	CCDS8146.1	11q13.2	2012-09-20			ENSG00000173992	ENSG00000173992	9973	9973			1613	protein-coding gene	gene with protein product		603864			NA	9295278	Standard	NM_005125	NM_005125	NA	Approved		uc001oir.3	O14618	OTTHUMG00000167238	ENST00000533244.1:c.295G>A	11.37:g.66366974G>A	ENSP00000436318:p.Val99Met	NA	Q2M366	37	CCDS8146.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	21.0	4.077420	0.76528	6.82E-4	0.0	ENSG00000173992	ENST00000533244;ENST00000310190	T;T	0.57752	0.38;0.38	5.23	4.31	0.51392	Superoxide dismutase, copper/zinc binding domain (3);	0.189495	0.46442	D	0.000286	T	0.78175	0.4242	H	0.97103	3.94	0.39517	D	0.968446	D	0.89917	1.0	D	0.67231	0.95	T	0.83326	-0.0015	10	0.87932	D	0	.	8.7598	0.34667	0.103:0.0:0.897:0.0	.	99	O14618	CCS_HUMAN	M	99;80	ENSP00000436318:V99M;ENSP00000307870:V80M	ENSP00000307870:V80M	V	+	1	0	CCS	66123550	1.000000	0.71417	0.896000	0.35187	0.900000	0.52787	4.047000	0.57383	1.419000	0.47118	0.655000	0.94253	GTG	CCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393826.1		+	ENST00000533244.1	Missense_Mutation	SNP	11 : 66366974 - 66366974 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	251	44
ROR1	4919	broad.mit.edu	37	1	64475030	64475030	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:64475030T>G	ENST00000371079.1	+	2	520	c.145T>G	c.(145-147)Tca>Gca	p.S49A	ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Missense_Mutation_p.S49A	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	49	Ig-like C2-type.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						ATGGAACATCTCAAGTGAACT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													170	169	169			NA	NA	1		NA											NA				64475030		2203	4300	6503	SO:0001583	missense			M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483	4919	4919		Immunoglobulin superfamily / I-set domain containing	10256	protein-coding gene	gene with protein product		602336		NTRKR1	NA	1334494, 8875995	Standard	NM_005012	NM_001083592	NA	Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.145T>G	1.37:g.64475030T>G	ENSP00000360120:p.Ser49Ala	NA	Q5VVX6|Q92776	37	CCDS626.1	.	.	.	.	.	.	.	.	.	.	T	5.540	0.284512	0.10513	.	.	ENSG00000185483	ENST00000371080;ENST00000371079;ENST00000544776	T;T	0.74947	0.0;-0.89	5.86	5.86	0.93980	Immunoglobulin-like (1);	0.000000	0.30401	U	0.009703	T	0.50137	0.1598	N	0.04090	-0.28	0.80722	D	1	P;P	0.44690	0.841;0.841	P;P	0.51170	0.661;0.661	T	0.58515	-0.7623	10	0.13470	T	0.59	.	15.9094	0.79461	0.0:0.0:0.0:1.0	.	49;49	Q01973;Q66K77	ROR1_HUMAN;.	A	49;49;52	ENSP00000360121:S49A;ENSP00000360120:S49A	ENSP00000360120:S49A	S	+	1	0	ROR1	64247618	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.106000	0.64597	2.241000	0.73720	0.533000	0.62120	TCA	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025002.1		+	ENST00000371079.1	Missense_Mutation	SNP	1 : 64475030 - 64475030 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1044	212
C2orf16	84226	broad.mit.edu	37	2	27803687	27803687	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27803687G>A	ENST00000408964.2	+	1	4299	c.4248G>A	c.(4246-4248)acG>acA	p.T1416T		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1416										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ACAAGCTAACGCCAGCAGGCT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	88	87			NA	NA	2		NA											NA				27803687		2023	4178	6201	SO:0001819	synonymous_variant			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843	84226	84226			25275	protein-coding gene	gene with protein product	P-S-E-R-S-H-H-S repeats containing				NA		Standard	NM_032266	NM_032266	NA	Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.4248G>A	2.37:g.27803687G>A		NA	B9EIQ4|Q53S01|Q8ND64|Q9H088	37	CCDS42666.1																																																																																			C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353292.1		+	ENST00000408964.2	Silent	SNP	2 : 27803687 - 27803687 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	661	52
ZNF524	147807	broad.mit.edu	37	19	56114114	56114114	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56114114G>A	ENST00000591046.1	+	1	870	c.636G>A	c.(634-636)acG>acA	p.T212T	ZNF524_ENST00000301073.3_Silent_p.T212T			Q96C55	ZN524_HUMAN	zinc finger protein 524	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T212T(1)		breast(1)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		AGGCCAACACGCTCCGGCGCC	0.706		NA												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)											16	15	15			NA	NA	19		NA											NA				56114114		2147	4218	6365	SO:0001819	synonymous_variant			BC014666	CCDS12929.1	19q13.43	2013-01-08				ENSG00000171443	147807	147807		Zinc fingers, C2H2-type	28322	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_153219	NM_153219	NA	Approved	MGC23143	uc002qlk.1	Q96C55		ENST00000591046.1:c.636G>A	19.37:g.56114114G>A		NA	Q6NW31|Q96IL7	37	CCDS12929.1																																																																																			ZNF524-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457938.1		+	ENST00000591046.1	Silent	SNP	19 : 56114114 - 56114114 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	163	33
DSG4	147409	broad.mit.edu	37	18	28992915	28992915	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28992915A>G	ENST00000359747.4	+	15	2566	c.2537A>G	c.(2536-2538)gAc>gGc	p.D846G	RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.D827G|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	827					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATTGTGGATGACTTAGATGAA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	124	127			NA	NA	18		NA											NA				28992915		2203	4300	6503	SO:0001583	missense			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065	147409	147409		Cadherins / Major cadherins	21307	protein-coding gene	gene with protein product		607892			NA	12648213	Standard	NM_177986	NM_001134453	NA	Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000359747.4:c.2537A>G	18.37:g.28992915A>G	ENSP00000352785:p.Asp846Gly	NA	A2RUI1|Q6Y9L9|Q8IXV4	37	CCDS45845.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.080926	0.76528	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.79141	-1.24;-1.24	5.64	5.64	0.86602	Cadherin, cytoplasmic domain (1);	0.000000	0.36482	N	0.002569	D	0.89842	0.6832	M	0.89214	3.015	0.45718	D	0.998622	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	D	0.91774	0.5430	10	0.87932	D	0	.	15.8549	0.78968	1.0:0.0:0.0:0.0	.	846;827	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	G	827;846	ENSP00000311859:D827G;ENSP00000352785:D846G	ENSP00000311859:D827G	D	+	2	0	DSG4	27246913	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.420000	0.66441	2.141000	0.66446	0.528000	0.53228	GAC	DSG4-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447503.1		+	ENST00000359747.4	Missense_Mutation	SNP	18 : 28992915 - 28992915 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	632	105
RAPGEF6	51735	broad.mit.edu	37	5	130928115	130928115	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130928115G>A	ENST00000507093.1	-	4	423	c.242C>T	c.(241-243)tCt>tTt	p.S81F	RAPGEF6_ENST00000308008.6_Missense_Mutation_p.S81F|RAPGEF6_ENST00000503398.2_5'UTR|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.S81F|RAPGEF6_ENST00000509018.1_Missense_Mutation_p.S81F|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.S131F|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.S81F|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.S81F	NM_001164388.1	NP_001157860.1	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	81					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CACAAGCACAGATCCAGAAAG	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(168;435 1955 13113 13877 23213)							NA				0													108	90	96			NA	NA	5		NA											NA				130928115		2203	4300	6503	SO:0001583	missense			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987	51735	51735			20655	protein-coding gene	gene with protein product		610499	PDZ domain containing guanine nucleotide exchange factor (GEF) 2	PDZGEF2	NA	11524421, 12095257	Standard	NM_016340	NM_016340	NA	Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000507093.1:c.242C>T	5.37:g.130928115G>A	ENSP00000426081:p.Ser81Phe	NA	Q8NI21|Q8TEU6|Q96PC1	37	CCDS54899.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163123	0.78226	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97	4.73	4.73	0.59995	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.64402	D	0.000011	T	0.50973	0.1647	M	0.83384	2.64	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.998;0.999;0.998;0.999;0.972	T	0.59172	-0.7504	10	0.87932	D	0	.	16.8241	0.85926	0.0:0.0:1.0:0.0	.	81;81;81;131;81;81	A3KN82;B7ZML2;Q8TEU7-2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;RPGF6_HUMAN	F	81;81;81;81;81;81;81;131	ENSP00000421684:S81F;ENSP00000309298:S81F;ENSP00000426081:S81F;ENSP00000296859:S81F;ENSP00000311419:S81F;ENSP00000425389:S81F;ENSP00000426948:S131F	ENSP00000426948:S131F	S	-	2	0	RAPGEF6;FNIP1	130956014	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.920000	0.70017	2.317000	0.78254	0.563000	0.77884	TCT	RAPGEF6-003	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370061.1		-	ENST00000507093.1	Missense_Mutation	SNP	5 : 130928115 - 130928115 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	256	31
PXN	5829	broad.mit.edu	37	12	120650126	120650126	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120650126G>A	ENST00000536957.1	-	12	2236	c.1761C>T	c.(1759-1761)ctC>ctT	p.L587L	PXN_ENST00000458477.2_Silent_p.L422L|PXN-AS1_ENST00000535200.1_RNA|PXN-AS1_ENST00000542265.1_RNA|PXN_ENST00000424649.2_Silent_p.L555L|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000267257.7_Silent_p.L603L|PXN_ENST00000397506.3_Silent_p.L401L|PXN_ENST00000228307.7_Silent_p.L589L			P49023	PAXI_HUMAN	paxillin	589	LIM zinc-binding 4.				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTAGCAGAAGAGCTTGAGGA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	75	72			NA	NA	12		NA											NA				120650126		2101	4216	6317	SO:0001819	synonymous_variant			U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159	5829	5829			9718	protein-coding gene	gene with protein product		602505			NA	7534286	Standard	NM_002859	NM_001080855	NA	Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000536957.1:c.1761C>T	12.37:g.120650126G>A		NA	B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	37																																																																																				PXN-004	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000402737.1		-	ENST00000536957.1	Silent	SNP	12 : 120650126 - 120650126 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	169	38
ODF1	4956	broad.mit.edu	37	8	103564276	103564276	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103564276G>T	ENST00000285402.3	+	1	476		c.e1+1			NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	NA					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			AGCTTGCCAAGtaaaataact	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	50	50			NA	NA	8		NA											NA				103564276		2203	4300	6503	SO:0001630	splice_region_variant			M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087	4956	4956		Heat shock proteins / HSPB	8113	protein-coding gene	gene with protein product	cancer/testis antigen 133	182878	outer dense fibre of sperm tails 1		NA	8305202	Standard		NM_024410	NA	Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.320+1G>T	8.37:g.103564276G>T		NA	Q3SX72	37	CCDS6293.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.034235	0.54896	.	.	ENSG00000155087	ENST00000285402	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0344	0.71734	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ODF1	103633452	1.000000	0.71417	0.997000	0.53966	0.845000	0.48019	4.746000	0.62133	2.601000	0.87937	0.655000	0.94253	.	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379884.1	Intron	+	ENST00000285402.3	Splice_Site	SNP	8 : 103564276 - 103564276 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	304	61
GAREM	64762	broad.mit.edu	37	18	29867839	29867839	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29867839C>T	ENST00000399218.4	-	4	776	c.721G>A	c.(721-723)Gag>Aag	p.E241K	GAREM_ENST00000578619.1_5'UTR|RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000269209.6_Missense_Mutation_p.E241K	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1	NA											NA						CTGGTTTTCTCCACAATGTTG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													185	156	166			NA	NA	18		NA											NA				29867839		2203	4300	6503	SO:0001583	missense			AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441	64762	64762			26136	protein-coding gene	gene with protein product	Grb2-associated and regulator of Erk/MAPK		chromosome 18 open reading frame 11, family with sequence similarity 59, member A	C18orf11, FAM59A	NA	19509291	Standard	NM_022751	NM_001242409	NA	Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000399218.4:c.721G>A	18.37:g.29867839C>T	ENSP00000382165:p.Glu241Lys	NA		37	CCDS11905.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224979	0.95173	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.15139	2.45;2.45	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.42200	0.1192	L	0.57536	1.79	0.80722	D	1	D;P	0.76494	0.999;0.925	D;P	0.83275	0.996;0.891	T	0.11717	-1.0576	10	0.87932	D	0	-30.664	20.0679	0.97707	0.0:1.0:0.0:0.0	.	241;241	Q9H706;Q9H706-3	FA59A_HUMAN;.	K	241	ENSP00000382165:E241K;ENSP00000269209:E241K	ENSP00000269209:E241K	E	-	1	0	FAM59A	28121837	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.398000	0.79919	2.821000	0.97095	0.561000	0.74099	GAG	GAREM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255364.3		-	ENST00000399218.4	Missense_Mutation	SNP	18 : 29867839 - 29867839 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	470	83
RSG1	79363	broad.mit.edu	37	1	16558646	16558646	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16558646G>A	ENST00000375599.3	-	5	1093	c.674C>T	c.(673-675)gCc>gTc	p.A225V		NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	225	Small GTPase-like.				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						GGCAACGTCGGCCAGCCCAGC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	43	42			NA	NA	1		NA											NA				16558646		2203	4300	6503	SO:0001583	missense			BC008702	CCDS171.1	1p36.13	2014-02-21	2011-02-22	2011-02-22	ENSG00000132881	ENSG00000132881	79363	79363			28127	protein-coding gene	gene with protein product	Rem/Rab-Similar GTPase 1		chromosome 1 open reading frame 89	C1orf89	NA	19767740	Standard	NM_030907	NM_030907	NA	Approved	MGC10731	uc001ayd.3	Q9BU20	OTTHUMG00000002214	ENST00000375599.3:c.674C>T	1.37:g.16558646G>A	ENSP00000364749:p.Ala225Val	NA	Q5TEV7	37	CCDS171.1	.	.	.	.	.	.	.	.	.	.	G	8.915	0.959659	0.18507	.	.	ENSG00000132881	ENST00000375599	T	0.55930	0.49	5.47	4.55	0.56014	.	0.266187	0.36374	N	0.002626	T	0.31420	0.0796	N	0.14661	0.345	0.33422	D	0.579943	B	0.10296	0.003	B	0.08055	0.003	T	0.33548	-0.9864	10	0.23302	T	0.38	-17.9134	8.8177	0.35007	0.1705:0.0:0.8295:0.0	.	225	Q9BU20	RSG1_HUMAN	V	225	ENSP00000364749:A225V	ENSP00000364749:A225V	A	-	2	0	RSG1	16431233	0.628000	0.27138	0.955000	0.39395	0.459000	0.32528	1.203000	0.32284	2.553000	0.86117	0.655000	0.94253	GCC	RSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006279.2		-	ENST00000375599.3	Missense_Mutation	SNP	1 : 16558646 - 16558646 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	383	33
EPOR	2057	broad.mit.edu	37	19	11492692	11492692	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11492692G>A	ENST00000592375.2	-	3	445	c.341C>T	c.(340-342)aCg>aTg	p.T114M	EPOR_ENST00000222139.6_Missense_Mutation_p.T114M			P19235	EPOR_HUMAN	erythropoietin receptor	114						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	GAAGCTCGACGTGTCGGCTGT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	53	55			NA	NA	19		NA											NA				11492692		2203	4300	6503	SO:0001583	missense			M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266	2057	2057		Fibronectin type III domain containing	3416	protein-coding gene	gene with protein product		133171			NA		Standard		NM_000121	NA	Approved		uc002mrj.2	P19235		ENST00000592375.2:c.341C>T	19.37:g.11492692G>A	ENSP00000467809:p.Thr114Met	NA	B2RCG4|Q15443|Q2M205	37		.	.	.	.	.	.	.	.	.	.	G	21.1	4.090546	0.76756	.	.	ENSG00000187266	ENST00000222139	D	0.84516	-1.86	4.18	4.18	0.49190	Fibronectin, type III (1);Growth hormone/erythropoietin receptor, ligand binding (1);Immunoglobulin-like fold (1);	0.410322	0.20505	N	0.091004	D	0.86636	0.5980	L	0.57536	1.79	0.28431	N	0.917265	D	0.63046	0.992	P	0.52710	0.707	T	0.81512	-0.0899	10	0.49607	T	0.09	.	12.3535	0.55161	0.0:0.0:1.0:0.0	.	114	P19235	EPOR_HUMAN	M	114	ENSP00000222139:T114M	ENSP00000222139:T114M	T	-	2	0	EPOR	11353692	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	5.100000	0.64560	2.074000	0.62210	0.305000	0.20034	ACG	EPOR-005	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000458792.2		-	ENST00000592375.2	Missense_Mutation	SNP	19 : 11492692 - 11492692 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	362	83
ANLN	54443	broad.mit.edu	37	7	36464161	36464161	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36464161G>A	ENST00000265748.2	+	16	2832	c.2611G>A	c.(2611-2613)Gta>Ata	p.V871I	ANLN_ENST00000396068.2_Missense_Mutation_p.V834I	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	871	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CAGGCAAGATGTATCCAATGA	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	63	62			NA	NA	7		NA											NA				36464161		2203	4297	6500	SO:0001583	missense			AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426	54443	54443		Pleckstrin homology (PH) domain containing	14082	protein-coding gene	gene with protein product			anillin (Drosophila Scraps homolog), actin binding protein, anillin, actin binding protein (scraps homolog, Drosophila)		NA	10931866	Standard	NM_018685	NM_001284301	NA	Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.2611G>A	7.37:g.36464161G>A	ENSP00000265748:p.Val871Ile	NA	Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	37	CCDS5447.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	27.2|27.2|27.2	4.811120|4.811120|4.811120	0.90707|0.90707|0.90707	.|.|.	.|.|.	ENSG00000011426|ENSG00000011426|ENSG00000011426	ENST00000428612|ENST00000446635;ENST00000457743|ENST00000265748;ENST00000396068	.|.|T;T	.|.|0.39997	.|.|1.05;1.05	5.79|5.79|5.79	5.79|5.79|5.79	0.91817|0.91817|0.91817	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.59742|0.59742|0.59742	0.2216|0.2216|0.2216	L|L|L	0.46741|0.46741|0.46741	1.465|1.465|1.465	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;P;P;P	.|.|0.89917	.|.|1.0;0.937;0.923;0.937	.|.|D;P;P;P	.|.|0.87578	.|.|0.998;0.705;0.58;0.705	T|T|T	0.54268|0.54268|0.54268	-0.8319|-0.8319|-0.8319	5|5|10	.|.|0.41790	.|.|T	.|.|0.15	-13.8711|-13.8711|-13.8711	18.6005|18.6005|18.6005	0.91247|0.91247|0.91247	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|748;833;834;871	.|.|B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.|.|.;.;.;ANLN_HUMAN	Y|I|I	35|224;74|871;834	.|.|ENSP00000265748:V871I;ENSP00000379380:V834I	.|.|ENSP00000265748:V871I	C|M|V	+|+|+	2|3|1	0|0|0	ANLN|ANLN|ANLN	36430686|36430686|36430686	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.993000|0.993000|0.993000	0.82548|0.82548|0.82548	6.776000|6.776000|6.776000	0.75023|0.75023|0.75023	2.741000|2.741000|2.741000	0.93983|0.93983|0.93983	0.557000|0.557000|0.557000	0.71058|0.71058|0.71058	TGT|ATG|GTA	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000218582.3		+	ENST00000265748.2	Missense_Mutation	SNP	7 : 36464161 - 36464161 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	158	21
GSE1	23199	broad.mit.edu	37	16	85689364	85689364	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85689364G>T	ENST00000253458.7	+	6	1006	c.830G>T	c.(829-831)aGg>aTg	p.R277M	GSE1_ENST00000393243.1_Missense_Mutation_p.R204M|GSE1_ENST00000405402.2_Missense_Mutation_p.R173M	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein	NA											NA						TCTGCCCTGAGGTCCCCGTTC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	80	84			NA	NA	16		NA											NA				85689364		2195	4298	6493	SO:0001583	missense			D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149	23199	23199			28979	protein-coding gene	gene with protein product	genetic suppressor element 1		KIAA0182, Gse1 coiled-coil protein homolog (mouse)	KIAA0182	NA	8724849, 8786132	Standard	NM_014615	NM_014615	NA	Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.830G>T	16.37:g.85689364G>T	ENSP00000253458:p.Arg277Met	NA		37	CCDS10952.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.111791|4.111791	0.77210|0.77210	.|.	.|.	ENSG00000131149|ENSG00000131149	ENST00000412692|ENST00000405402;ENST00000411612;ENST00000253458;ENST00000393243	.|T;T;T	.|0.41400	.|1.01;1.0;1.05	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.64338|0.64338	0.2589|0.2589	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.996	T|T	0.69094|0.69094	-0.5236|-0.5236	5|10	.|0.87932	.|D	.|0	-26.9258|-26.9258	17.8254|17.8254	0.88664|0.88664	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|204;277	.|Q14687-3;Q14687	.|.;GSE1_HUMAN	C|M	84|173;173;277;204	.|ENSP00000384839:R173M;ENSP00000253458:R277M;ENSP00000376934:R204M	.|ENSP00000253458:R277M	G|R	+|+	1|2	0|0	KIAA0182|KIAA0182	84246865|84246865	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	9.450000|9.450000	0.97607|0.97607	2.211000|2.211000	0.71520|0.71520	0.555000|0.555000	0.69702|0.69702	GGT|AGG	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325527.1		+	ENST00000253458.7	Missense_Mutation	SNP	16 : 85689364 - 85689364 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	460	58
SCNN1D	6339	broad.mit.edu	37	1	1225717	1225717	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1225717C>T	ENST00000338555.2	+	10	2381	c.1237C>T	c.(1237-1239)Cct>Tct	p.P413S	SCNN1D_ENST00000379116.5_Missense_Mutation_p.P577S|SCNN1D_ENST00000325425.8_Missense_Mutation_p.P479S|SCNN1D_ENST00000400928.3_Missense_Mutation_p.P413S					sodium channel, non-voltage-gated 1, delta subunit	NA										lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CTACCTCCACCCTCTGCCGGC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	42	42			NA	NA	1		NA											NA				1225717		2189	4291	6480	SO:0001583	missense			U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572	6339	6339		Ion channels / Sodium channel, nonvoltage-gated, Sodium channels	10601	protein-coding gene	gene with protein product		601328	sodium channel, nonvoltage-gated 1, delta, sodium channel, non-voltage-gated 1, delta		NA	8661065	Standard	NM_002978	NM_001130413	NA	Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.1237C>T	1.37:g.1225717C>T	ENSP00000339504:p.Pro413Ser	NA		37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.14|14.14	2.447329|2.447329	0.43429|0.43429	.|.	.|.	ENSG00000162572|ENSG00000162572	ENST00000379099|ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928	.|T;T;T;T	.|0.72942	.|-0.65;-0.7;-0.69;-0.7	3.13|3.13	2.09|2.09	0.27110|0.27110	.|.	0.484380|0.484380	0.16350|0.16350	U|U	0.218259|0.218259	D|D	0.83862|0.83862	0.5346|0.5346	M|M	0.87381|0.87381	2.88|2.88	0.28260|0.28260	N|N	0.92488|0.92488	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.999;1.0;0.976	T|T	0.75485|0.75485	-0.3301|-0.3301	6|10	.|0.87932	.|D	.|0	.|.	10.4602|10.4602	0.44575|0.44575	0.0:0.8003:0.1997:0.0|0.0:0.8003:0.1997:0.0	.|.	.|235;413;577	.|B1AMF2;P51172;A6NNF7	.|.;SCNND_HUMAN;.	L|S	229|444;577;413;479;413	.|ENSP00000368411:P577S;ENSP00000339504:P413S;ENSP00000321594:P479S;ENSP00000383717:P413S	.|ENSP00000321594:P479S	P|P	+|+	2|1	0|0	SCNN1D|SCNN1D	1215580|1215580	0.990000|0.990000	0.36364|0.36364	0.093000|0.093000	0.20910|0.20910	0.012000|0.012000	0.07955|0.07955	2.636000|2.636000	0.46545|0.46545	1.302000|1.302000	0.44855|0.44855	0.306000|0.306000	0.20318|0.20318	CCC|CCT	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000005802.2		+	ENST00000338555.2	Missense_Mutation	SNP	1 : 1225717 - 1225717 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	352	38
TIE1	7075	broad.mit.edu	37	1	43774659	43774659	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43774659C>T	ENST00000372476.3	+	8	1124	c.1045C>T	c.(1045-1047)Cgg>Tgg	p.R349W	TIE1_ENST00000441333.2_Intron|TIE1_ENST00000433781.2_5'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	349					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTCCCCAGACCGGATCCCCCA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	61	65			NA	NA	1		NA											NA				43774659		2203	4300	6503	SO:0001583	missense			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	7075	7075	2.7.10.1	Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	11809	protein-coding gene	gene with protein product		600222	tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1	TIE	NA	1312667	Standard	NM_005424	NM_005424	NA	Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1045C>T	1.37:g.43774659C>T	ENSP00000361554:p.Arg349Trp	NA		37	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941063	0.53079	.	.	ENSG00000066056	ENST00000372476	T	0.79033	-1.23	4.6	4.6	0.57074	.	0.000000	0.36374	N	0.002635	T	0.68063	0.2960	L	0.46157	1.445	0.80722	D	1	B;B;B	0.27498	0.032;0.18;0.107	B;B;B	0.14578	0.003;0.011;0.007	T	0.65615	-0.6125	10	0.33940	T	0.23	.	11.1624	0.48522	0.0:0.916:0.0:0.084	.	304;349;349	B4DTW8;B5A952;P35590	.;.;TIE1_HUMAN	W	349	ENSP00000361554:R349W	ENSP00000361554:R349W	R	+	1	2	TIE1	43547246	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.975000	0.56859	2.396000	0.81511	0.563000	0.77884	CGG	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019011.1		+	ENST00000372476.3	Missense_Mutation	SNP	1 : 43774659 - 43774659 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	75
MAPRE1	22919	broad.mit.edu	37	20	31434492	31434492	+	Silent	SNP	G	G	A	rs139716054		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31434492G>A	ENST00000375571.5	+	6	805	c.666G>A	c.(664-666)cgG>cgA	p.R222R	RP5-1085F17.4_ENST00000565572.1_RNA	NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	222	APC-binding.|DCTN1-binding.|EB1 C-terminal.|Interaction with CDK5RAP2.|Interaction with MTUS2/TIP150.				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						GAAAGCTACGGAACATTGAAT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	171	174			NA	NA	20		NA											NA				31434492		2203	4300	6503	SO:0001819	synonymous_variant			U24166	CCDS13208.1	20q11.1-q11.3	2013-01-17			ENSG00000101367	ENSG00000101367	22919	22919			6890	protein-coding gene	gene with protein product	adenomatous polyposis coli-binding protein EB1	603108			NA	7606712, 9724749, 11470413	Standard	NM_012325	NM_012325	NA	Approved	EB1	uc002wyh.3	Q15691	OTTHUMG00000032228	ENST00000375571.5:c.666G>A	20.37:g.31434492G>A		NA	B2R6I7|E1P5M8|Q3KQS8	37	CCDS13208.1																																																																																			MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078647.2		+	ENST00000375571.5	Silent	SNP	20 : 31434492 - 31434492 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	961	186
MAP2K6	5608	broad.mit.edu	37	17	67522730	67522730	+	Missense_Mutation	SNP	G	G	A	rs146595343	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67522730G>A	ENST00000590474.1	+	10	1048	c.761G>A	c.(760-762)cGa>cAa	p.R254Q	MAP2K6_ENST00000589647.1_Missense_Mutation_p.R198Q	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	254	Protein kinase.				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|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	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R254L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					GCCATCCTTCGATTTCCCTAT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	central_nervous_system(1)						G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	100	101	100		761	6.2	1	17	dbSNP_134	100	4,8596	3.7+/-12.6	0,4,4296	yes	missense	MAP2K6	NM_002758.3	43	0,6,6497	AA,AG,GG	NA	0.0465,0.0454,0.0461	benign	254/335	67522730	6,13000	2203	4300	6503	SO:0001583	missense			U39064	CCDS11686.1	17q	2011-06-09					5608	5608		Mitogen-activated protein kinase cascade / Kinase kinases	6846	protein-coding gene	gene with protein product	protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)	601254		PRKMK6	NA	8621675	Standard	NM_002758	XM_005257515	NA	Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.761G>A	17.37:g.67522730G>A	ENSP00000468348:p.Arg254Gln	NA		37	CCDS11686.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453096	0.63290	4.54E-4	4.65E-4	ENSG00000108984	ENST00000359094	.	.	.	6.16	6.16	0.99307	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.061266	0.64402	D	0.000007	T	0.44623	0.1302	N	0.13168	0.305	0.49483	D	0.999798	P	0.43826	0.818	P	0.45310	0.476	T	0.22626	-1.0211	8	.	.	.	-17.1079	19.4236	0.94732	0.0:0.0:1.0:0.0	.	254	P52564	MP2K6_HUMAN	Q	254	.	.	R	+	2	0	MAP2K6	65034325	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.365000	0.52335	2.937000	0.99478	0.650000	0.86243	CGA	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450689.1		+	ENST00000590474.1	Missense_Mutation	SNP	17 : 67522730 - 67522730 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	538	111
ZNF443	10224	broad.mit.edu	37	19	12543223	12543223	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12543223T>G	ENST00000301547.5	-	3	356	c.159A>C	c.(157-159)gaA>gaC	p.E53D	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	53	KRAB.				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TATATTGATCTTCAATGTTCT	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	76	73			NA	NA	19		NA											NA				12543223		2201	4292	6493	SO:0001583	missense			AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855	10224	10224		Zinc fingers, C2H2-type, -	20878	protein-coding gene	gene with protein product		606697			NA	9731181	Standard	NM_005815	NM_005815	NA	Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.159A>C	19.37:g.12543223T>G	ENSP00000301547:p.Glu53Asp	NA		37	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	T	10.39	1.336043	0.24253	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.00873	5.59	1.28	0.133	0.14766	Krueppel-associated box (3);	.	.	.	.	T	0.00967	0.0032	L	0.39326	1.205	0.20638	N	0.999871	B	0.14012	0.009	B	0.13407	0.009	T	0.45101	-0.9284	9	0.31617	T	0.26	.	5.4506	0.16563	0.0:0.0:0.2877:0.7123	.	53	Q9Y2A4	ZN443_HUMAN	D	53	ENSP00000301547:E53D	ENSP00000301547:E53D	E	-	3	2	ZNF443	12404223	0.006000	0.16342	0.085000	0.20634	0.318000	0.28184	0.267000	0.18552	0.007000	0.14760	-0.827000	0.03088	GAA	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344084.1		-	ENST00000301547.5	Missense_Mutation	SNP	19 : 12543223 - 12543223 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	227	23
DIEXF	27042	broad.mit.edu	37	1	210003473	210003473	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210003473A>C	ENST00000491415.2	+	2	185	c.128A>C	c.(127-129)aAg>aCg	p.K43T		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	43					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						AAGGAAGCAAAGCCACAGATT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	152	152			NA	NA	1		NA											NA				210003473		2203	4300	6503	SO:0001583	missense			BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597	27042	27042			28440	protein-coding gene	gene with protein product			chromosome 1 open reading frame 107	C1orf107	NA	16322560	Standard	NM_014388	NM_014388	NA	Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.128A>C	1.37:g.210003473A>C	ENSP00000419005:p.Lys43Thr	NA	O75992|Q4VY00|Q63HL9	37	CCDS1493.1	.	.	.	.	.	.	.	.	.	.	A	10.95	1.494594	0.26774	.	.	ENSG00000117597	ENST00000491415	T	0.48201	0.82	4.61	4.61	0.57282	.	0.211553	0.47093	D	0.000249	T	0.40498	0.1119	L	0.49350	1.555	0.29871	N	0.826792	B	0.17852	0.024	B	0.15870	0.014	T	0.39099	-0.9630	10	0.42905	T	0.14	-24.85	9.8382	0.40982	0.6695:0.3305:0.0:0.0	.	43	Q68CQ4	DIEXF_HUMAN	T	43	ENSP00000419005:K43T	ENSP00000419005:K43T	K	+	2	0	DIEXF	208070096	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	0.872000	0.28037	1.924000	0.55735	0.459000	0.35465	AAG	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089127.2		+	ENST00000491415.2	Missense_Mutation	SNP	1 : 210003473 - 210003473 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	67
ZMYND8	23613	broad.mit.edu	37	20	45867626	45867626	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45867626C>T	ENST00000458360.2	-	15	2259				ZMYND8_ENST00000355972.4_Silent_p.T827T|ZMYND8_ENST00000262975.4_Intron|ZMYND8_ENST00000311275.7_Silent_p.T827T|ZMYND8_ENST00000446994.2_Intron|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000471951.2_Silent_p.T847T|ZMYND8_ENST00000540497.1_Silent_p.T775T|ZMYND8_ENST00000396281.4_Silent_p.T827T|ZMYND8_ENST00000372023.3_Intron|ZMYND8_ENST00000461685.1_Intron|ZMYND8_ENST00000536340.1_Silent_p.T854T|ZMYND8_ENST00000352431.2_Intron|ZMYND8_ENST00000360911.3_Intron	NM_001281771.1	NP_001268700.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	NA							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TTTGGGAGGACGTTTGAAACT	0.572		NA											C	2	9e-04	NA	NA	2184	0.0035	1	,	,	NA	3e-04	NA	NA	NA	9e-04	0.9756	LOWCOV,EXOME	NA	NA	8e-04	SNP								NA				0													59	67	64			NA	NA	20		NA											NA				45867626		2185	4274	6459	SO:0001627	intron_variant			U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040	23613	23613		Zinc fingers, MYND-type, Zinc fingers, PHD-type	9397	protein-coding gene	gene with protein product		615713	protein kinase C binding protein 1	PRKCBP1	NA		Standard	NM_183047	NM_001281769	NA	Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000458360.2:c.2210-2366G>A	20.37:g.45867626C>T		NA	B7Z680|E1P5U5|Q13517|Q2HXV2|Q2HXV8|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	37																																																																																				ZMYND8-011	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000354388.1		-	ENST00000458360.2	Intron	SNP	20 : 45867626 - 45867626 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	585	115
OR13G1	441933	broad.mit.edu	37	1	247835916	247835916	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247835916C>T	ENST00000359688.2	-	1	449	c.428G>A	c.(427-429)aGc>aAc	p.S143N	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CATGACCATGCTGAGCAAGGC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	84	91			NA	NA	1		NA											NA				247835916		2203	4300	6503	SO:0001583	missense			AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437	441933	441933		GPCR / Class A : Olfactory receptors	14999	protein-coding gene	gene with protein product		611677			NA		Standard	NM_001005487	NM_001005487	NA	Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.428G>A	1.37:g.247835916C>T	ENSP00000352717:p.Ser143Asn	NA	B2RN80|Q5T2T2|Q6IF86	37	CCDS31094.1	.	.	.	.	.	.	.	.	.	.	C	9.042	0.990006	0.18966	.	.	ENSG00000197437	ENST00000359688	T	0.38240	1.15	4.2	-0.109	0.13584	GPCR, rhodopsin-like superfamily (1);	0.608395	0.14901	N	0.291811	T	0.31009	0.0783	M	0.64997	1.995	0.09310	N	1	B	0.17465	0.022	B	0.21546	0.035	T	0.34054	-0.9844	10	0.72032	D	0.01	-16.9307	4.4	0.11381	0.1502:0.3193:0.4407:0.0898	.	143	Q8NGZ3	O13G1_HUMAN	N	143	ENSP00000352717:S143N	ENSP00000352717:S143N	S	-	2	0	OR13G1	245902539	0.000000	0.05858	0.000000	0.03702	0.594000	0.36715	-0.641000	0.05434	-0.101000	0.12219	0.563000	0.77884	AGC	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096869.1		-	ENST00000359688.2	Missense_Mutation	SNP	1 : 247835916 - 247835916 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	348	64
TSC2	7249	broad.mit.edu	37	16	2130329	2130329	+	Silent	SNP	G	G	A	rs137854121		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2130329G>A	ENST00000219476.3	+	30	4191	c.3561G>A	c.(3559-3561)gtG>gtA	p.V1187V	TSC2_ENST00000353929.4_Silent_p.V1144V|TSC2_ENST00000382538.6_Silent_p.V1095V|TSC2_ENST00000350773.4_Silent_p.V1187V|TSC2_ENST00000401874.2_Silent_p.V1143V|TSC2_ENST00000439673.2_Silent_p.V1107V|TSC2_ENST00000568454.1_Silent_p.V1154V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1187					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CGGCCTATGTGCCCCTGCTGA	0.662		NA	D, Mis, N, F, S			hamartoma, renal cell			Tuberous Sclerosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		E, O	0													48	54	52			NA	NA	16		NA											NA				2130329		2198	4298	6496	SO:0001819	synonymous_variant	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197	7249	7249			12363	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 160	191092		TSC4	NA	1303246, 7558029	Standard	NM_000548	NM_001077183	NA	Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3561G>A	16.37:g.2130329G>A		NA	A7E2E2|B4DIQ7|B4DRN2|C9J378|O75275|Q4LE71|Q8TAZ1	37	CCDS10458.1																																																																																			TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250657.2		+	ENST00000219476.3	Silent	SNP	16 : 2130329 - 2130329 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	648	115
PTPN21	11099	broad.mit.edu	37	14	88983460	88983460	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88983460G>T	ENST00000556564.1	-	3	610	c.326C>A	c.(325-327)tCt>tAt	p.S109Y	PTPN21_ENST00000328736.3_Missense_Mutation_p.S109Y|PTPN21_ENST00000554628.1_5'UTR	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	109	FERM.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTGCAGCTGAGAAACTGAAGG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	96	100			NA	NA	14		NA											NA				88983460		2203	4300	6503	SO:0001583	missense			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778	11099	11099		Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor	9651	protein-coding gene	gene with protein product		603271			NA	7519780	Standard		NM_007039	NA	Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.326C>A	14.37:g.88983460G>T	ENSP00000452414:p.Ser109Tyr	NA		37	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.984700	0.35036	.	.	ENSG00000070778	ENST00000328736;ENST00000556564;ENST00000555243	T;T;T	0.78595	-1.19;-1.19;-1.19	5.77	3.96	0.45880	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.361101	0.26307	N	0.025124	D	0.85609	0.5736	M	0.85777	2.775	0.09310	N	0.999997	B;P	0.48016	0.125;0.904	B;P	0.54312	0.094;0.748	T	0.79266	-0.1874	10	0.87932	D	0	.	12.6804	0.56918	0.1189:0.0:0.8811:0.0	.	109;109	G3V3S6;Q16825	.;PTN21_HUMAN	Y	109	ENSP00000330276:S109Y;ENSP00000452414:S109Y;ENSP00000451401:S109Y	ENSP00000330276:S109Y	S	-	2	0	PTPN21	88053213	0.987000	0.35691	0.012000	0.15200	0.253000	0.25986	3.331000	0.52075	0.796000	0.33947	0.561000	0.74099	TCT	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410303.1		-	ENST00000556564.1	Missense_Mutation	SNP	14 : 88983460 - 88983460 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	70
EFR3A	23167	broad.mit.edu	37	8	132980547	132980547	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:132980547G>T	ENST00000254624.5	+	9	1086	c.861G>T	c.(859-861)caG>caT	p.Q287H	EFR3A_ENST00000519656.1_Missense_Mutation_p.Q251H|EFR3A_ENST00000334503.4_Missense_Mutation_p.Q287H	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	287						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TTCAGGCTCAGTATTCTCACC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	81	85			NA	NA	8		NA											NA				132980547		2203	4300	6503	SO:0001583	missense			D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294	23167	23167			28970	protein-coding gene	gene with protein product		611798			NA	15363888	Standard	NM_015137	NM_015137	NA	Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.861G>T	8.37:g.132980547G>T	ENSP00000254624:p.Gln287His	NA	A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	37	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868286	0.72065	.	.	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T	0.49720	0.77;0.77;0.77	5.66	3.84	0.44239	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64605	0.2613	M	0.81112	2.525	0.58432	D	0.999999	D	0.76494	0.999	D	0.73708	0.981	T	0.66814	-0.5828	10	0.87932	D	0	-1.3492	6.3182	0.21202	0.1352:0.0:0.6941:0.1707	.	287	Q14156	EFR3A_HUMAN	H	287;287;287;251	ENSP00000254624:Q287H;ENSP00000334769:Q287H;ENSP00000428086:Q251H	ENSP00000254624:Q287H	Q	+	3	2	EFR3A	133049729	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.014000	0.40951	1.356000	0.45884	0.655000	0.94253	CAG	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318886.1		+	ENST00000254624.5	Missense_Mutation	SNP	8 : 132980547 - 132980547 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	166	28
BACH1	571	broad.mit.edu	37	21	30698591	30698591	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30698591A>G	ENST00000399921.1	+	3	689	c.446A>G	c.(445-447)cAc>cGc	p.H149R	BACH1_ENST00000286800.3_Missense_Mutation_p.H149R	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	149						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TTTTCATCACACTGTCAGAAA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	75	75			NA	NA	21		NA											NA				30698591		2203	4300	6503	SO:0001583	missense			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273	571	571		BTB/POZ domain containing, basic leucine zipper proteins	935	protein-coding gene	gene with protein product		602751			NA	9544839, 9479503	Standard	NM_206866	NR_027655	NA	Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.446A>G	21.37:g.30698591A>G	ENSP00000382805:p.His149Arg	NA	O43285	37	CCDS13585.1	.	.	.	.	.	.	.	.	.	.	A	4.953	0.177102	0.09443	.	.	ENSG00000156273	ENST00000286800;ENST00000399921;ENST00000451655;ENST00000447177;ENST00000435072	T;T;T;T;T	0.76316	-0.54;-0.54;-0.87;-0.87;-1.01	5.45	1.81	0.25067	.	0.459050	0.23900	N	0.043458	T	0.55689	0.1936	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29274	-1.0017	10	0.22109	T	0.4	-4.9071	1.8311	0.03130	0.4783:0.1338:0.2672:0.1208	.	149	O14867	BACH1_HUMAN	R	149	ENSP00000286800:H149R;ENSP00000382805:H149R;ENSP00000400576:H149R;ENSP00000408605:H149R;ENSP00000392202:H149R	ENSP00000286800:H149R	H	+	2	0	BACH1	29620462	0.006000	0.16342	0.545000	0.28153	0.716000	0.41182	0.999000	0.29757	0.136000	0.18733	0.482000	0.46254	CAC	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000171974.1		+	ENST00000399921.1	Missense_Mutation	SNP	21 : 30698591 - 30698591 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	410	36
ZC3H4	23211	broad.mit.edu	37	19	47588377	47588377	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47588377C>T	ENST00000253048.5	-	8	1080	c.1043G>A	c.(1042-1044)aGc>aAc	p.S348N	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	348	Gly-rich.						nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CCCTCCTCGGCTGCCACCTCG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													191	203	199			NA	NA	19		NA											NA				47588377		2107	4204	6311	SO:0001583	missense			AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749	23211	23211		Zinc fingers, CCCH-type domain containing	17808	protein-coding gene	gene with protein product			chromosome 19 open reading frame 7	C19orf7	NA		Standard		NM_015168	NA	Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.1043G>A	19.37:g.47588377C>T	ENSP00000253048:p.Ser348Asn	NA	Q9Y420	37	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721601	0.68959	.	.	ENSG00000130749	ENST00000253048	T	0.17691	2.26	5.97	5.97	0.96955	.	0.504809	0.23924	N	0.043218	T	0.12305	0.0299	N	0.22421	0.69	0.25133	N	0.990553	P	0.34462	0.454	B	0.26614	0.071	T	0.19386	-1.0307	10	0.28530	T	0.3	.	17.3508	0.87323	0.0:1.0:0.0:0.0	.	348	Q9UPT8	ZC3H4_HUMAN	N	348	ENSP00000253048:S348N	ENSP00000253048:S348N	S	-	2	0	ZC3H4	52280217	0.999000	0.42202	0.994000	0.49952	0.995000	0.86356	4.293000	0.59037	2.838000	0.97847	0.561000	0.74099	AGC	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466667.1		-	ENST00000253048.5	Missense_Mutation	SNP	19 : 47588377 - 47588377 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1056	190
DKKL1	27120	broad.mit.edu	37	19	49878129	49878129	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49878129C>T	ENST00000221498.2	+	5	978	c.573C>T	c.(571-573)agC>agT	p.S191S	AC010524.2_ENST00000599433.1_RNA|DKKL1_ENST00000594268.1_Silent_p.S49S	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	191					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		ACTGGCTCAGCGAGAAGCGAC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	30	29			NA	NA	19		NA											NA				49878129		2203	4300	6503	SO:0001819	synonymous_variant			AB047816	CCDS12762.1	19q13.3	2010-10-12	2010-10-12		ENSG00000104901	ENSG00000104901	27120	27120			16528	protein-coding gene	gene with protein product	cancer/testis antigen 34, soggy	605418	dickkopf-like 1 (soggy)		NA	10570958	Standard	NM_014419	NM_001197301	NA	Approved	SGY-1, CT34	uc002pnk.3	Q9UK85		ENST00000221498.2:c.573C>T	19.37:g.49878129C>T		NA		37	CCDS12762.1																																																																																			DKKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465454.2		+	ENST00000221498.2	Silent	SNP	19 : 49878129 - 49878129 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	243	38
TRMT10C	54931	broad.mit.edu	37	3	101284007	101284007	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101284007G>T	ENST00000309922.6	+	2	536	c.382G>T	c.(382-384)Gca>Tca	p.A128S		NM_017819.2	NP_060289.2			tRNA methyltransferase 10 homolog C (S. cerevisiae)	NA											NA						TTCTAACACAGCaaaaaaaaa	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	29	30			NA	NA	3		NA											NA				101284007		1792	4053	5845	SO:0001583	missense			AK000439	CCDS43122.1	3q12.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000174173	ENSG00000174173	54931	54931			26022	protein-coding gene	gene with protein product	mitochondrial RNase P subunit 1	615423	RNA (guanine-9-) methyltransferase domain containing 1	RG9MTD1	NA	18984158	Standard	NM_017819	NM_017819	NA	Approved	FLJ20432, MRPP1	uc003duz.4	Q7L0Y3	OTTHUMG00000159114	ENST00000309922.6:c.382G>T	3.37:g.101284007G>T	ENSP00000312356:p.Ala128Ser	NA		37	CCDS43122.1	.	.	.	.	.	.	.	.	.	.	G	0.043	-1.275498	0.01410	.	.	ENSG00000174173	ENST00000309922;ENST00000495642	T;T	0.39592	1.07;1.07	5.87	1.96	0.26148	.	0.430986	0.25400	N	0.030958	T	0.19685	0.0473	N	0.04043	-0.29	0.43292	D	0.995275	B	0.13145	0.007	B	0.11329	0.006	T	0.08932	-1.0698	10	0.08179	T	0.78	-4.3727	15.3005	0.73945	0.0:0.0:0.556:0.444	.	128	Q7L0Y3	MRRP1_HUMAN	S	128	ENSP00000312356:A128S;ENSP00000419389:A128S	ENSP00000312356:A128S	A	+	1	0	RG9MTD1	102766697	1.000000	0.71417	0.858000	0.33744	0.552000	0.35366	1.226000	0.32563	0.557000	0.29117	-0.262000	0.10625	GCA	TRMT10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353400.2		+	ENST00000309922.6	Missense_Mutation	SNP	3 : 101284007 - 101284007 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	239	46
PIM3	415116	broad.mit.edu	37	22	50356512	50356512	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50356512A>G	ENST00000360612.4	+	5	1227	c.792A>G	c.(790-792)ccA>ccG	p.P264P		NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN	Pim-3 proto-oncogene, serine/threonine kinase	264	Protein kinase.				cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle		ATP binding|protein binding|protein serine/threonine kinase activity				NA		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		GGGTCTCTCCAGGTGCGTGGT	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	39	38			NA	NA	22		NA											NA				50356512		2203	4300	6503	SO:0001630	splice_region_variant			BC052239	CCDS33678.1	22q13	2014-06-25	2014-06-25		ENSG00000198355	ENSG00000198355	415116	415116			19310	protein-coding gene	gene with protein product		610580	pim-3 oncogene		NA	12477932	Standard	NM_001001852	NM_001001852	NA	Approved		uc003bjb.3	Q86V86	OTTHUMG00000150290	ENST00000360612.4:c.793+1A>G	22.37:g.50356512A>G		NA	A5D8X8|A8K7J0|B1B0P0|Q68BM2	37	CCDS33678.1																																																																																			PIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317406.1	Silent	+	ENST00000360612.4	Splice_Site	SNP	22 : 50356512 - 50356512 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	345	15
POLR3E	55718	broad.mit.edu	37	16	22328345	22328345	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22328345G>T	ENST00000299853.5	+	11	925	c.758G>T	c.(757-759)aGc>aTc	p.S253I	POLR3E_ENST00000359210.4_Missense_Mutation_p.S253I|POLR3E_ENST00000418581.2_Missense_Mutation_p.S217I|POLR3E_ENST00000564209.1_Missense_Mutation_p.S253I	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	253					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		ATGCCACCCAGCCAGGAGGAG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	97	97			NA	NA	16		NA											NA				22328345		2197	4300	6497	SO:0001583	missense			AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600	55718	55718		RNA polymerase subunits	30347	protein-coding gene	gene with protein product					NA	10819331, 10521666	Standard	NM_018119	NM_018119	NA	Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.758G>T	16.37:g.22328345G>T	ENSP00000299853:p.Ser253Ile	NA	Q9BWF7|Q9H8W8|Q9H907|Q9P276	37	CCDS10605.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017760	0.35606	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.46063	0.88;0.88;0.88	5.22	2.89	0.33648	.	0.259797	0.45126	D	0.000383	T	0.26268	0.0641	N	0.11427	0.14	0.34833	D	0.739931	B;B;B;B;B;B	0.33883	0.43;0.43;0.229;0.191;0.143;0.376	B;B;B;B;B;B	0.37833	0.259;0.122;0.243;0.109;0.175;0.168	T	0.44726	-0.9309	10	0.87932	D	0	-11.3541	10.3174	0.43745	0.2381:0.0:0.7619:0.0	.	197;217;253;253;253;253	B4DDR0;B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;.;RPC5_HUMAN;.	I	253;253;217	ENSP00000299853:S253I;ENSP00000352140:S253I;ENSP00000399254:S217I	ENSP00000299853:S253I	S	+	2	0	POLR3E	22235846	0.994000	0.37717	1.000000	0.80357	0.983000	0.72400	2.155000	0.42301	1.186000	0.42985	0.561000	0.74099	AGC	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000211590.1		+	ENST00000299853.5	Missense_Mutation	SNP	16 : 22328345 - 22328345 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	701	145
LCE3A	353142	broad.mit.edu	37	1	152595443	152595443	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152595443C>T	ENST00000335674.1	-	1	136	c.137G>A	c.(136-138)aGc>aAc	p.S46N		NM_178431.1	NP_848518.1	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A	46					keratinization					endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGGCAGCAGCTGCGCTCGGA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	51	50			NA	NA	1		NA											NA				152595443		2203	4300	6503	SO:0001583	missense				CCDS1017.1	1q21.3	2008-02-05			ENSG00000185962	ENSG00000185962	353142	353142		Late cornified envelopes	29461	protein-coding gene	gene with protein product		612613			NA	11698679	Standard	NM_178431	NM_178431	NA	Approved	LEP13	uc010pdt.2	Q5TA76	OTTHUMG00000012397	ENST00000335674.1:c.137G>A	1.37:g.152595443C>T	ENSP00000335006:p.Ser46Asn	NA		37	CCDS1017.1	.	.	.	.	.	.	.	.	.	.	C	3.900	-0.022189	0.07634	.	.	ENSG00000185962	ENST00000335674	T	0.04015	3.73	3.61	3.61	0.41365	.	.	.	.	.	T	0.01835	0.0058	.	.	.	0.09310	N	1	B	0.25609	0.13	B	0.24269	0.052	T	0.40831	-0.9542	8	0.62326	D	0.03	.	10.9218	0.47169	0.0:1.0:0.0:0.0	.	46	Q5TA76	LCE3A_HUMAN	N	46	ENSP00000335006:S46N	ENSP00000335006:S46N	S	-	2	0	LCE3A	150862067	0.724000	0.28038	0.059000	0.19551	0.012000	0.07955	1.084000	0.30828	2.002000	0.58637	0.650000	0.86243	AGC	LCE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034517.2		-	ENST00000335674.1	Missense_Mutation	SNP	1 : 152595443 - 152595443 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	497	35
ARMC2	84071	broad.mit.edu	37	6	109274296	109274296	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109274296C>T	ENST00000392644.4	+	13	1825	c.1657C>T	c.(1657-1659)Cgt>Tgt	p.R553C	ARMC2_ENST00000368972.3_Missense_Mutation_p.R388C	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	553							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TAACCAGGCTCGTGAACAATT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	44	46			NA	NA	6		NA											NA				109274296		2203	4300	6503	SO:0001583	missense			BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690	84071	84071		Armadillo repeat containing	23045	protein-coding gene	gene with protein product					NA		Standard	NM_032131	XM_005267154	NA	Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.1657C>T	6.37:g.109274296C>T	ENSP00000376417:p.Arg553Cys	NA	A8K8Y4|Q5VVY8|Q9H0K9	37	CCDS5069.2	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801871	0.70682	.	.	ENSG00000118690	ENST00000368972;ENST00000392644	T;T	0.50813	0.73;0.73	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.66366	0.2782	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.67933	-0.5542	10	0.72032	D	0.01	.	20.0763	0.97746	0.0:1.0:0.0:0.0	.	553	Q8NEN0	ARMC2_HUMAN	C	388;553	ENSP00000357968:R388C;ENSP00000376417:R553C	ENSP00000357968:R388C	R	+	1	0	ARMC2	109380989	1.000000	0.71417	0.907000	0.35723	0.337000	0.28794	5.047000	0.64232	2.756000	0.94617	0.655000	0.94253	CGT	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041732.2		+	ENST00000392644.4	Missense_Mutation	SNP	6 : 109274296 - 109274296 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	139	25
BOC	91653	broad.mit.edu	37	3	112993336	112993336	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112993336G>A	ENST00000495514.1	+	9	2053	c.1349G>A	c.(1348-1350)aGa>aAa	p.R450K	BOC_ENST00000273395.4_Missense_Mutation_p.R450K|BOC_ENST00000497495.1_3'UTR|BOC_ENST00000355385.3_Missense_Mutation_p.R450K			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	450					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GCGCTCCCCAGACCCCCAACG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	38	38			NA	NA	3		NA											NA				112993336		2203	4300	6503	SO:0001583	missense			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857	91653	91653		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	17173	protein-coding gene	gene with protein product	brother of CDO, brother of CDON, cell adhesion associated, oncogene regulated 2	608708	Boc homolog (mouse)		NA	11782431	Standard	NM_033254	NM_033254	NA	Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1349G>A	3.37:g.112993336G>A	ENSP00000418663:p.Arg450Lys	NA	A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	37	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	G	2.811	-0.246972	0.05867	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.57752	0.38;0.38;0.38	5.08	1.1	0.20463	.	0.391327	0.25747	N	0.028573	T	0.25938	0.0632	N	0.15975	0.35	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.27157	-1.0082	10	0.02654	T	1	.	8.127	0.31005	0.519:0.0:0.481:0.0	.	450;450	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	K	450	ENSP00000418663:R450K;ENSP00000273395:R450K;ENSP00000347546:R450K	ENSP00000273395:R450K	R	+	2	0	BOC	114476026	0.914000	0.31030	0.000000	0.03702	0.014000	0.08584	0.500000	0.22562	0.132000	0.18615	0.563000	0.77884	AGA	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354485.3		+	ENST00000495514.1	Missense_Mutation	SNP	3 : 112993336 - 112993336 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	370	61
BMPR1A	657	broad.mit.edu	37	10	88635777	88635777	+	Translation_Start_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88635777T>C	ENST00000372037.3	+	3	539	c.2T>C	c.(1-3)aTg>aCg	p.M1T	BMPR1A_ENST00000480152.1_3'UTR	NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	NA					BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						AATTGAACAATGCCTCAGCTA	0.328		NA	Mis, N, F			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(190;603 2086 22044 30335 47971)	yes	Rec		Juvenile polyposis	10	10q22.3	657	bone morphogenetic protein receptor, type IA		E	0													195	194	194			NA	NA	10		NA											NA				88635777		2203	4300	6503	SO:0001582	initiator_codon_variant	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	BC028383	CCDS7378.1	10q22.3	2014-09-17			ENSG00000107779	ENSG00000107779	657	657		CD molecules	1076	protein-coding gene	gene with protein product		601299		ACVRLK3	NA	8397373, 9730621	Standard	NM_004329	NM_004329	NA	Approved	ALK3, CD292	uc001kdy.3	P36894	OTTHUMG00000018657	ENST00000372037.3:c.2T>C	10.37:g.88635777T>C	ENSP00000361107:p.Met1Thr	NA	A8K6U9|Q8NEN8	37	CCDS7378.1	.	.	.	.	.	.	.	.	.	.	T	11.91	1.778498	0.31502	.	.	ENSG00000107779	ENST00000224764;ENST00000372037	D	0.82619	-1.63	5.3	5.3	0.74995	.	0.047717	0.85682	D	0.000000	T	0.78836	0.4346	.	.	.	0.80722	D	1	B	0.18166	0.026	B	0.13407	0.009	T	0.76631	-0.2888	9	0.87932	D	0	.	13.7802	0.63079	0.0:0.0:0.0:1.0	.	1	P36894	BMR1A_HUMAN	T	1	ENSP00000361107:M1T	ENSP00000224764:M1T	M	+	2	0	BMPR1A	88625757	1.000000	0.71417	1.000000	0.80357	0.498000	0.33706	4.551000	0.60740	2.128000	0.65567	0.455000	0.32223	ATG	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049170.3	Missense_Mutation	+	ENST00000372037.3	Start_Codon_SNP	SNP	10 : 88635777 - 88635777 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	54
RET	5979	broad.mit.edu	37	10	43613844	43613844	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43613844C>T	ENST00000355710.3	+	13	2540	c.2308C>T	c.(2308-2310)Cga>Tga	p.R770*	RET_ENST00000340058.5_Nonsense_Mutation_p.R770*	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	770	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.R770*(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GAGTGAGCTGCGAGACCTGCT	0.562		1	T, Mis, N, F	H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6	medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC	medullary thyroid,  papillary thyroid, pheochromocytoma	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	E, O	1	Substitution - Nonsense(1)	large_intestine(1)											52	49	50			NA	NA	10		NA											NA				43613844		2203	4300	6503	SO:0001587	stop_gained	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731	5979	5979		Cadherins / Cadherin-related	9967	protein-coding gene	gene with protein product	cadherin-related family member 16	164761	multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease 1	HSCR1, MEN2A, MTC1, MEN2B	NA	2687772, 1611909	Standard	NM_020975	NM_020975	NA	Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2308C>T	10.37:g.43613844C>T	ENSP00000347942:p.Arg770*	NA	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	37	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	41	8.586971	0.98875	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	.	.	.	5.58	3.49	0.39957	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7699	0.78162	0.3268:0.6732:0.0:0.0	.	.	.	.	X	770	.	ENSP00000344798:R770X	R	+	1	2	RET	42933850	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.493000	0.35605	1.324000	0.45282	0.655000	0.94253	CGA	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047694.2		+	ENST00000355710.3	Nonsense_Mutation	SNP	10 : 43613844 - 43613844 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	189	29
KDM3B	51780	broad.mit.edu	37	5	137767233	137767233	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137767233T>C	ENST00000314358.5	+	23	5390	c.5190T>C	c.(5188-5190)caT>caC	p.H1730H	KDM3B_ENST00000394866.1_Silent_p.H1386H|KDM3B_ENST00000542866.1_Silent_p.H762H	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1730					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						ATACAAATCATGAGGATAAAC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	85	85			NA	NA	5		NA											NA				137767233		2203	4300	6503	SO:0001819	synonymous_variant			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733	51780	51780		Chromatin-modifying enzymes / K-demethylases	1337	protein-coding gene	gene with protein product		609373	chromosome 5 open reading frame 7, jumonji domain containing 1B	C5orf7, JMJD1B	NA	15138608	Standard	NM_016604	NM_016604	NA	Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.5190T>C	5.37:g.137767233T>C		NA	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	37	CCDS34242.1																																																																																			KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373597.1		+	ENST00000314358.5	Silent	SNP	5 : 137767233 - 137767233 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	421	94
NSD1	64324	broad.mit.edu	37	5	176639155	176639155	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176639155G>A	ENST00000439151.2	+	5	3800	c.3755G>A	c.(3754-3756)gGa>gAa	p.G1252E	NSD1_ENST00000354179.4_Missense_Mutation_p.G983E|NSD1_ENST00000347982.4_Missense_Mutation_p.G983E|NSD1_ENST00000361032.4_Missense_Mutation_p.G1149E	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1252					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AAGGAGCCAGGAATTCCCAGT	0.423		NA	T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													41	44	43			NA	NA	5		NA											NA				176639155		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671	64324	64324		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	14234	protein-coding gene	gene with protein product		606681	Sotos syndrome	STO	NA	9628876, 11896389	Standard	NM_172349	NM_022455	NA	Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3755G>A	5.37:g.176639155G>A	ENSP00000395929:p.Gly1252Glu	NA	Q96PD8|Q96RN7	37	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441657	0.63067	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93712	-3.16;-3.16;-3.16;-3.27	4.68	2.86	0.33363	.	0.316419	0.22860	N	0.054747	D	0.90393	0.6993	N	0.24115	0.695	0.31661	N	0.645574	D;D;D	0.56287	0.975;0.975;0.958	P;P;P	0.56343	0.741;0.796;0.555	D	0.87578	0.2482	10	0.39692	T	0.17	.	6.6042	0.22716	0.092:0.0:0.7293:0.1787	.	983;1149;1252	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	E	983;1252;983;1149	ENSP00000346111:G983E;ENSP00000395929:G1252E;ENSP00000343209:G983E;ENSP00000354310:G1149E	ENSP00000343209:G983E	G	+	2	0	NSD1	176571761	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	0.821000	0.27338	0.685000	0.31468	0.655000	0.94253	GGA	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253412.2		+	ENST00000439151.2	Missense_Mutation	SNP	5 : 176639155 - 176639155 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	255	19
CDK4	1019	broad.mit.edu	37	12	58144864	58144864	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58144864G>A	ENST00000257904.6	-	4	729	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	CDK4_ENST00000312990.6_Intron|CDK4_ENST00000549606.1_Intron|CDK4_ENST00000551888.1_Intron|CDK4_ENST00000540325.1_Missense_Mutation_p.R2C	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	122	Protein kinase.		R -> H (in dbSNP:rs34386532).		cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			AGAAACTGGCGCATCAGATCC	0.473		NA	Mis			melanoma			Hereditary Melanoma					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Dom		Familial malignant melanoma	12	12q14	1019	cyclin-dependent kinase 4		E	0													83	78	80			NA	NA	12		NA											NA				58144864		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Familial Atypical Multiple Mole Melanoma sydrome, FAMMM, Familial Dysplastic Nevus syndrome	M14505	CCDS8953.1	12q13	2014-09-17				ENSG00000135446	1019	1019		Cyclin-dependent kinases	1773	protein-coding gene	gene with protein product		123829			NA	8275715	Standard	NM_000075	NM_000075	NA	Approved	PSK-J3	uc001spv.3	P11802		ENST00000257904.6:c.364C>T	12.37:g.58144864G>A	ENSP00000257904:p.Arg122Cys	NA	O00576|Q6FG61	37	CCDS8953.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.879269	0.51801	.	.	ENSG00000135446	ENST00000257904;ENST00000540325;ENST00000546489;ENST00000547281;ENST00000551800;ENST00000552254;ENST00000552388	T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;1.97;1.97	4.76	1.31	0.21738	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.299629	0.31199	N	0.008063	T	0.45094	0.1325	L	0.47078	1.49	0.80722	D	1	D	0.65815	0.995	P	0.52758	0.708	T	0.38929	-0.9638	10	0.66056	D	0.02	.	4.5789	0.12248	0.2204:0.0:0.54:0.2396	.	122	P11802	CDK4_HUMAN	C	122;2;48;48;48;122;122	ENSP00000257904:R122C;ENSP00000439076:R2C;ENSP00000447779:R48C;ENSP00000447274:R48C;ENSP00000449391:R48C;ENSP00000449179:R122C;ENSP00000448963:R122C	ENSP00000257904:R122C	R	-	1	0	CDK4	56431131	0.174000	0.23070	1.000000	0.80357	0.969000	0.65631	0.397000	0.20883	0.541000	0.28827	0.655000	0.94253	CGC	CDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408790.2		-	ENST00000257904.6	Missense_Mutation	SNP	12 : 58144864 - 58144864 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	439	99
ZNF835	90485	broad.mit.edu	37	19	57176450	57176450	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57176450G>A	ENST00000537055.2	-	2	348	c.117C>T	c.(115-117)gcC>gcT	p.A39A		NM_001005850.2	NP_001005850.2			zinc finger protein 835	NA										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGCAGGCCACGGCCTCTGGCT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	84	82			NA	NA	19		NA											NA				57176450		1994	4165	6159	SO:0001819	synonymous_variant			AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903	90485	90485		Zinc fingers, C2H2-type	34332	protein-coding gene	gene with protein product					NA		Standard	NM_001005850	NM_001005850	NA	Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.117C>T	19.37:g.57176450G>A		NA		37	CCDS56105.1																																																																																			ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459800.1		-	ENST00000537055.2	Silent	SNP	19 : 57176450 - 57176450 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	59
FASTKD2	22868	broad.mit.edu	37	2	207631743	207631743	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207631743C>T	ENST00000236980.6	+	2	674	c.326C>T	c.(325-327)gCt>gTt	p.A109V	FASTKD2_ENST00000402774.3_Missense_Mutation_p.A109V|FASTKD2_ENST00000403094.3_Missense_Mutation_p.A109V	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	109					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		CTACTTTATGCTAAAAGACTG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	43	43			NA	NA	2		NA											NA				207631743		2203	4300	6503	SO:0001583	missense			BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246	22868	22868			29160	protein-coding gene	gene with protein product		612322	KIAA0971	KIAA0971	NA		Standard	NM_014929	NM_014929	NA	Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.326C>T	2.37:g.207631743C>T	ENSP00000236980:p.Ala109Val	NA	Q9NVX6|Q9Y2H7	37	CCDS2371.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251448	0.22880	.	.	ENSG00000118246	ENST00000236980;ENST00000418289;ENST00000402774;ENST00000403094	T;T;T;T	0.48201	2.44;0.82;2.44;2.44	5.07	5.07	0.68467	.	0.870625	0.09920	N	0.738585	T	0.40767	0.1130	L	0.36672	1.1	0.09310	N	1	B;B	0.21225	0.053;0.031	B;B	0.18561	0.022;0.01	T	0.22941	-1.0202	10	0.66056	D	0.02	-5.462	10.885	0.46962	0.0:0.913:0.0:0.087	.	109;109	Q9NYY8-2;Q9NYY8	.;FAKD2_HUMAN	V	109	ENSP00000236980:A109V;ENSP00000409927:A109V;ENSP00000385990:A109V;ENSP00000384929:A109V	ENSP00000236980:A109V	A	+	2	0	FASTKD2	207339988	0.020000	0.18652	0.626000	0.29213	0.007000	0.05969	0.415000	0.21181	2.639000	0.89480	0.561000	0.74099	GCT	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256428.2		+	ENST00000236980.6	Missense_Mutation	SNP	2 : 207631743 - 207631743 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	193	16
CDC14B	8555	broad.mit.edu	37	9	99266070	99266070	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99266070G>A	ENST00000375241.1	-	14	1913	c.1462C>T	c.(1462-1464)Ctc>Ttc	p.L488F	CDC14B_ENST00000375240.3_Splice_Site_p.L449F|CDC14B_ENST00000463569.1_3'UTR|CDC14B_ENST00000375242.3_Splice_Site_p.L451F|CDC14B_ENST00000265659.2_Intron	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	488					activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				GAAATGGAGAGACTACAGGGG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	73	74			NA	NA	9		NA											NA				99266070		2203	4300	6503	SO:0001630	splice_region_variant			AF023158	CCDS6721.1, CCDS6722.1, CCDS43853.1	9q22.3	2013-01-17	2013-01-17		ENSG00000081377	ENSG00000081377	8555	8555		Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s	1719	protein-coding gene	gene with protein product		603505	CDC14 (cell division cycle 14, S. cerevisiae) homolog B, CDC14 cell division cycle 14 homolog B (S. cerevisiae)		NA	9367992	Standard	NM_033331	NM_003671	NA	Approved	Cdc14B1, Cdc14B2, CDC14B3, hCDC14B	uc004awj.3	O60729	OTTHUMG00000020300	ENST00000375241.1:c.1461-1C>T	9.37:g.99266070G>A		NA	A6N5X8|B1AL31|B1AL32|O43183|O60730|Q5JU08	37	CCDS6722.1	.	.	.	.	.	.	.	.	.	.	G	4.485	0.089961	0.08632	.	.	ENSG00000081377	ENST00000375241;ENST00000375240;ENST00000375242	D;D;D	0.91996	-2.94;-2.95;-2.93	4.88	4.88	0.63580	.	0.552057	0.17597	N	0.168548	D	0.85733	0.5765	N	0.22421	0.69	0.80722	D	1	B;B;B	0.28998	0.23;0.044;0.008	B;B;B	0.31390	0.129;0.023;0.002	T	0.81185	-0.1048	10	0.10111	T	0.7	0.3137	15.3465	0.74343	0.0:0.0:1.0:0.0	.	449;488;451	O60729-2;O60729;A8MQ20	.;CC14B_HUMAN;.	F	488;449;451	ENSP00000364389:L488F;ENSP00000364388:L449F;ENSP00000364390:L451F	ENSP00000364388:L449F	L	-	1	0	CDC14B	98305891	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	5.977000	0.70492	2.537000	0.85549	0.557000	0.71058	CTC	CDC14B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053278.2	Missense_Mutation	-	ENST00000375241.1	Splice_Site	SNP	9 : 99266070 - 99266070 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	427	82
MAML1	9794	broad.mit.edu	37	5	179192579	179192579	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179192579C>T	ENST00000292599.3	+	2	831	c.568C>T	c.(568-570)Cgt>Tgt	p.R190C	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	190					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAACAAAAAGCGTCTGGCTGA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	39	38			NA	NA	5		NA											NA				179192579		2203	4300	6503	SO:0001583	missense			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021	9794	9794			13632	protein-coding gene	gene with protein product	mastermind homolog	605424	mastermind (drosophila)-like 1		NA	11101851, 11390662	Standard	NM_014757	NM_014757	NA	Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.568C>T	5.37:g.179192579C>T	ENSP00000292599:p.Arg190Cys	NA	Q9NZ12	37	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	C	5.987	0.366053	0.11352	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.40756	1.02	4.9	-0.496	0.12027	.	0.143880	0.49305	N	0.000144	T	0.09818	0.0241	N	0.00521	-1.4	0.30173	N	0.801095	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.12344	-1.0551	10	0.35671	T	0.21	-0.4315	2.387	0.04368	0.1236:0.1414:0.1289:0.6062	.	227;190	Q59GH4;Q92585	.;MAML1_HUMAN	C	190;227	ENSP00000292599:R190C	ENSP00000292599:R190C	R	+	1	0	MAML1	179125185	0.997000	0.39634	0.936000	0.37596	0.499000	0.33736	1.457000	0.35212	-0.326000	0.08564	-0.505000	0.04504	CGT	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372316.2		+	ENST00000292599.3	Missense_Mutation	SNP	5 : 179192579 - 179192579 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	237	73
ZNF501	115560	broad.mit.edu	37	3	44776675	44776675	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44776675C>A	ENST00000396048.2	+	3	1199	c.762C>A	c.(760-762)tcC>tcA	p.S254S		NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		GTGGGAAATCCTTTAGGCACA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	72	71			NA	NA	3		NA											NA				44776675		2031	4228	6259	SO:0001819	synonymous_variant			BC013762	CCDS2720.2	3p21.32	2013-01-08			ENSG00000186446	ENSG00000186446	115560	115560		Zinc fingers, C2H2-type	23717	protein-coding gene	gene with protein product			zinc finger protein 52	ZNF52	NA	1505991	Standard	NM_145044	NM_145044	NA	Approved	MGC21738	uc003cnu.2	Q96CX3	OTTHUMG00000133048	ENST00000396048.2:c.762C>A	3.37:g.44776675C>A		NA	B4DLY7|Q96NU9	37	CCDS2720.2																																																																																			ZNF501-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256654.4		+	ENST00000396048.2	Silent	SNP	3 : 44776675 - 44776675 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	64
ZNF263	10127	broad.mit.edu	37	16	3333885	3333885	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3333885G>A	ENST00000573578.1	+	1	380	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	ZNF263_ENST00000219069.5_Missense_Mutation_p.A23T|ZNF263_ENST00000538765.1_Intron|ZNF263_ENST00000574253.1_Missense_Mutation_p.A23T			O14978	ZN263_HUMAN	zinc finger protein 263	23					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						GGAGGACTGCGCCTGGAGCCA	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	40	38			NA	NA	16		NA											NA				3333885		2197	4299	6496	SO:0001583	missense			AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194	10127	10127		Zinc fingers, C2H2-type, -, -, -	13056	protein-coding gene	gene with protein product		604191			NA	9256059	Standard		NM_005741	NA	Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000573578.1:c.67G>A	16.37:g.3333885G>A	ENSP00000460278:p.Ala23Thr	NA	B2R634|O43387|Q96H95	37		.	.	.	.	.	.	.	.	.	.	G	4.522	0.096876	0.08681	.	.	ENSG00000006194	ENST00000219069	T	0.04809	3.55	5.06	3.08	0.35506	.	0.623424	0.15188	N	0.275713	T	0.02455	0.0075	N	0.14661	0.345	0.29067	N	0.883524	B;B	0.13594	0.008;0.001	B;B	0.08055	0.003;0.001	T	0.40942	-0.9536	10	0.02654	T	1	.	7.4218	0.27075	0.1935:0.0:0.8065:0.0	.	23;23	O14978;D3DUC1	ZN263_HUMAN;.	T	23	ENSP00000219069:A23T	ENSP00000219069:A23T	A	+	1	0	ZNF263	3273886	0.021000	0.18746	0.999000	0.59377	0.980000	0.70556	0.319000	0.19522	1.468000	0.48064	0.655000	0.94253	GCC	ZNF263-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000437560.1		+	ENST00000573578.1	Missense_Mutation	SNP	16 : 3333885 - 3333885 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	330	37
PLA2G2E	30814	broad.mit.edu	37	1	20248849	20248849	+	Silent	SNP	G	G	T	rs143904654	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20248849G>T	ENST00000375116.3	-	3	285	c.228C>A	c.(226-228)ggC>ggA	p.G76G		NM_014589.1	NP_055404.1	Q9NZK7	PA2GE_HUMAN	phospholipase A2, group IIE	76					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGCTCACAGCCCAGCTTCT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	57	57			NA	NA	1		NA											NA				20248849		2203	4300	6503	SO:0001819	synonymous_variant			AF189279	CCDS200.1	1p36.13	2008-09-19			ENSG00000188784	ENSG00000188784	30814	30814	3.1.1.4		13414	protein-coding gene	gene with protein product					NA	10681567, 11922621	Standard	NM_014589	NM_014589	NA	Approved		uc001bct.1	Q9NZK7	OTTHUMG00000002702	ENST00000375116.3:c.228C>A	1.37:g.20248849G>T		NA	Q5VXJ8	37	CCDS200.1																																																																																			PLA2G2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007684.1		-	ENST00000375116.3	Silent	SNP	1 : 20248849 - 20248849 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	210	22
RNF123	63891	broad.mit.edu	37	3	49753836	49753836	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49753836C>T	ENST00000327697.6	+	35	3570	c.3426C>T	c.(3424-3426)agC>agT	p.S1142S	RNF123_ENST00000433785.1_Silent_p.S254S	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1142						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GCCTAGAGAGCGTGGACCACT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		2,4404	4.2+/-10.8	0,2,2201	247	249	248		3426	-5.3	0.8	3		248	0,8600		0,0,4300	no	coding-synonymous	RNF123	NM_022064.2		0,2,6501	TT,TC,CC	NA	0.0,0.0454,0.0154		1142/1315	49753836	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068	63891	63891		RING-type (C3HC4) zinc fingers	21148	protein-coding gene	gene with protein product		614472			NA		Standard	NM_022064	NM_022064	NA	Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.3426C>T	3.37:g.49753836C>T		NA	A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	37	CCDS33758.1																																																																																			RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346475.2		+	ENST00000327697.6	Silent	SNP	3 : 49753836 - 49753836 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1819	311
SUV420H1	51111	broad.mit.edu	37	11	67939172	67939172	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67939172G>A	ENST00000402185.2	-	6	789	c.589C>T	c.(589-591)Cga>Tga	p.R197*	SUV420H1_ENST00000401547.2_Nonsense_Mutation_p.R220*|SUV420H1_ENST00000304363.4_Nonsense_Mutation_p.R220*|SUV420H1_ENST00000405515.1_Nonsense_Mutation_p.R220*|SUV420H1_ENST00000402789.1_Nonsense_Mutation_p.R220*			Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	220	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TTGTCATTTCGTTTCCTATTT	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	72	73			NA	NA	11		NA											NA				67939172		2200	4294	6494	SO:0001587	stop_gained			AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066	51111	51111		Chromatin-modifying enzymes / K-methyltransferases	24283	protein-coding gene	gene with protein product		610881			NA	10810093, 11401438	Standard	NM_017635	NM_016028	NA	Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000402185.2:c.589C>T	11.37:g.67939172G>A	ENSP00000384724:p.Arg197*	NA	B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	37		.	.	.	.	.	.	.	.	.	.	G	34	5.371350	0.95923	.	.	ENSG00000110066	ENST00000304363;ENST00000401547;ENST00000405515;ENST00000402789;ENST00000402185;ENST00000533271	.	.	.	5.73	4.76	0.60689	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8323	15.8848	0.79238	0.0:0.0:0.864:0.136	.	.	.	.	X	220;220;220;220;197;48	.	ENSP00000305899:R220X	R	-	1	2	SUV420H1	67695748	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.737000	0.68606	2.854000	0.98071	0.655000	0.94253	CGA	SUV420H1-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000318323.2		-	ENST00000402185.2	Nonsense_Mutation	SNP	11 : 67939172 - 67939172 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	334	41
TTN	7273	broad.mit.edu	37	2	179481716	179481716	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179481716G>A	ENST00000589042.1	-	256	48124	c.47900C>T	c.(47899-47901)gCa>gTa	p.A15967V	TTN_ENST00000591111.1_Missense_Mutation_p.A14326V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A7027V|TTN_ENST00000460472.2_Missense_Mutation_p.A6902V|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000342992.6_Missense_Mutation_p.A13399V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A7094V|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14326	Fibronectin type-III 16.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTTTAAATGCACTTAAATC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	125	126			NA	NA	2		NA											NA				179481716		1861	4092	5953	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.47900C>T	2.37:g.179481716G>A	ENSP00000467141:p.Ala15967Val	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.842310	0.32513	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63096	-0.02;0.21;0.2;0.21	5.91	3.94	0.45596	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.64405	0.2595	M	0.62723	1.935	0.37973	D	0.933336	B;B;B;P	0.35493	0.22;0.22;0.22;0.505	B;B;B;B	0.42319	0.119;0.119;0.207;0.383	T	0.72200	-0.4362	9	0.87932	D	0	.	12.2373	0.54522	0.0:0.0999:0.6366:0.2635	.	6902;7027;7094;14326	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	13399;6902;7094;7027;6902	ENSP00000343764:A13399V;ENSP00000434586:A6902V;ENSP00000340554:A7094V;ENSP00000352154:A7027V	ENSP00000340554:A7094V	A	-	2	0	TTN	179189961	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.597000	0.61062	1.483000	0.48342	0.655000	0.94253	GCA	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179481716 - 179481716 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	742	115
MACF1	23499	broad.mit.edu	37	1	39801495	39801495	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39801495C>A	ENST00000372915.3	+	36	9337	c.9250C>A	c.(9250-9252)Ctc>Atc	p.L3084I	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.L3116I|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.L3079I|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.L1519I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3084					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.L1519I(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAATTTAAGTCTCTGCTTGAC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											43	49	47			NA	NA	1		NA											NA				39801495		2202	4300	6502	SO:0001583	missense			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603	23499	23499		EF-hand domain containing	13664	protein-coding gene	gene with protein product	actin cross-linking factor, 620 kDa actin binding protein, macrophin 1, trabeculin-alpha, actin cross-linking family protein 7	608271			NA	7635207, 10529403	Standard	NM_033044	NM_012090	NA	Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.9250C>A	1.37:g.39801495C>A	ENSP00000362006:p.Leu3084Ile	NA	E9PJT0|O75053|Q5VW20|Q8WXY2|Q9H540|Q9UKP0|Q9ULG9	37		.	.	.	.	.	.	.	.	.	.	C	2.677	-0.276160	0.05679	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.71222	-0.55;0.35	5.23	-0.429	0.12303	.	1.243890	0.05633	N	0.582132	T	0.51329	0.1668	N	0.19112	0.55	0.09310	N	1	B	0.13145	0.007	B	0.15870	0.014	T	0.39231	-0.9624	10	0.54805	T	0.06	.	1.3539	0.02178	0.2044:0.3456:0.2775:0.1725	.	3084	Q9UPN3	MACF1_HUMAN	I	3084;1519	ENSP00000362006:L3084I;ENSP00000289893:L1519I	ENSP00000289893:L1519I	L	+	1	0	MACF1	39574082	0.000000	0.05858	0.161000	0.22692	0.302000	0.27658	-0.371000	0.07513	-0.039000	0.13602	-0.257000	0.10917	CTC	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000392096.1		+	ENST00000372915.3	Missense_Mutation	SNP	1 : 39801495 - 39801495 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	27
BTBD16	118663	broad.mit.edu	37	10	124034607	124034607	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124034607C>T	ENST00000260723.4	+	2	262	c.11C>T	c.(10-12)tCg>tTg	p.S4L	BTBD16_ENST00000368994.2_Missense_Mutation_p.S4L	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	4										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				ATGATAATGTCGAACACGGTG	0.393		NA											C	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.9547	EXOME	NA	NA	5e-04	SNP								NA				0													198	179	186			NA	NA	10		NA											NA				124034607		2203	4300	6503	SO:0001583	missense			AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152	118663	118663		BTB/POZ domain containing	26340	protein-coding gene	gene with protein product			chromosome 10 open reading frame 87	C10orf87	NA		Standard	NM_144587	NM_144587	NA	Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.11C>T	10.37:g.124034607C>T	ENSP00000260723:p.Ser4Leu	NA	A6NM63|Q4VXL1|Q96LN0	37	CCDS31301.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	8.704	0.910321	0.17833	.	.	ENSG00000138152	ENST00000260723;ENST00000368994	T;T	0.19105	2.29;2.17	3.74	2.62	0.31277	.	1.302300	0.05746	N	0.602239	T	0.08268	0.0206	N	0.02011	-0.69	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.31752	-0.9932	10	0.22109	T	0.4	0.0467	5.3294	0.15924	0.0:0.1349:0.0:0.8651	.	4;4	Q32M84-2;Q32M84	.;BTBDG_HUMAN	L	4	ENSP00000260723:S4L;ENSP00000357990:S4L	ENSP00000260723:S4L	S	+	2	0	BTBD16	124024597	0.007000	0.16637	0.068000	0.19968	0.001000	0.01503	0.223000	0.17719	0.797000	0.33971	-0.302000	0.09304	TCG	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050780.3		+	ENST00000260723.4	Missense_Mutation	SNP	10 : 124034607 - 124034607 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	640	101
IL16	3603	broad.mit.edu	37	15	81571983	81571983	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81571983C>T	ENST00000394660.2	+	8	1309	c.949C>T	c.(949-951)Ctg>Ttg	p.L317L	IL16_ENST00000302987.4_Silent_p.L317L	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	317	Interaction with GRIN2A.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GTCTCCCCCACTGTGCCGCTC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	42	41			NA	NA	15		NA											NA				81571983		1964	4158	6122	SO:0001819	synonymous_variant			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349	3603	3603		Interleukins and interleukin receptors	5980	protein-coding gene	gene with protein product	prointerleukin 16, lymphocyte chemoattractant factor	603035	interleukin 16 (lymphocyte chemoattractant factor)		NA	9144227	Standard	NM_172217	NM_004513	NA	Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000394660.2:c.949C>T	15.37:g.81571983C>T		NA	A6NM20|A8MU65|B9EGR6|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	37	CCDS53966.1																																																																																			IL16-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000291391.4		+	ENST00000394660.2	Silent	SNP	15 : 81571983 - 81571983 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	305	55
SLC52A1	55065	broad.mit.edu	37	17	4936291	4936291	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4936291A>G	ENST00000512825.2	-	0	2595				SLC52A1_ENST00000424747.1_Silent_p.F436F|SLC52A1_ENST00000254853.5_Silent_p.F436F			Q9NWF4	RFT_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	NA						integral to plasma membrane	receptor activity|riboflavin transporter activity				NA						TTCTGCTTTGAAACACGTGGT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	75	74			NA	NA	17		NA											NA				4936291		2203	4300	6503	SO:0001624	3_prime_UTR_variant			AY070775	CCDS11066.1	17p13.3	2013-07-17	2013-07-17	2012-02-29	ENSG00000132517	ENSG00000132517	55065	55065		Solute carriers	30225	protein-coding gene	gene with protein product	riboflavin transporter 1	607883	G protein-coupled receptor 172B	GPR172B	NA	12740431, 18632736	Standard	NM_017986	NM_001104577	NA	Approved	FLJ10060, GPCR42, PAR2, hRFT1, RFVT1	uc002gao.4	Q9NWF4	OTTHUMG00000099448	ENST00000512825.2:c.*131T>C	17.37:g.4936291A>G		NA	B5MEV1|B5MEV2|Q6P9E0|Q86UT0	37																																																																																				SLC52A1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000438891.1		-	ENST00000512825.2	3'UTR	SNP	17 : 4936291 - 4936291 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	228	62
EHMT1	79813	broad.mit.edu	37	9	140711975	140711975	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140711975C>T	ENST00000460843.1	+	24	3486	c.3459C>T	c.(3457-3459)tgC>tgT	p.C1153C		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1153	SET.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CCTTTGTCTGCGAGTGAGTGA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	69	70			NA	NA	9		NA											NA				140711975		2203	4300	6503	SO:0001819	synonymous_variant			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	79813	79813	2.1.1.43	Chromatin-modifying enzymes / K-methyltransferases, Ankyrin repeat domain containing	24650	protein-coding gene	gene with protein product		607001	euchromatic histone methyltransferase 1		NA	11347906, 12004135	Standard	NM_024757	NM_024757	NA	Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.3459C>T	9.37:g.140711975C>T		NA	B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	37	CCDS7050.2																																																																																			EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055371.2		+	ENST00000460843.1	Silent	SNP	9 : 140711975 - 140711975 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	52
CHIT1	1118	broad.mit.edu	37	1	203192720	203192720	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203192720C>T	ENST00000367229.1	-	5	417	c.383G>A	c.(382-384)cGc>cAc	p.R128H	CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Missense_Mutation_p.R109H|CHIT1_ENST00000535569.1_Missense_Mutation_p.R119H	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	128					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GCTGTATTTGCGCAGAAACCT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	139	144			NA	NA	1		NA											NA				203192720		2203	4300	6503	SO:0001583	missense			U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063	1118	1118			1936	protein-coding gene	gene with protein product		600031			NA	9748235, 9492324	Standard	NM_003465	NM_003465	NA	Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.383G>A	1.37:g.203192720C>T	ENSP00000356198:p.Arg128His	NA	Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	37	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.847641	0.51164	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.07114	3.22;3.22;3.22	5.0	4.09	0.47781	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.132232	0.34906	N	0.003582	T	0.27765	0.0683	M	0.76938	2.355	0.49389	D	0.99978	D;D	0.89917	0.998;1.0	P;D	0.91635	0.87;0.999	T	0.01468	-1.1347	10	0.66056	D	0.02	-5.7151	11.2471	0.49004	0.0:0.9098:0.0:0.0902	.	119;128	G5EA51;Q13231	.;CHIT1_HUMAN	H	128;109;119	ENSP00000356198:R128H;ENSP00000255427:R109H;ENSP00000438078:R119H	ENSP00000255427:R109H	R	-	2	0	CHIT1	201459343	0.998000	0.40836	0.503000	0.27626	0.339000	0.28857	4.054000	0.57434	1.084000	0.41184	0.643000	0.83706	CGC	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000100275.2		-	ENST00000367229.1	Missense_Mutation	SNP	1 : 203192720 - 203192720 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	810	168
CASS4	57091	broad.mit.edu	37	20	55027901	55027901	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:55027901G>T	ENST00000360314.3	+	6	1894	c.1669G>T	c.(1669-1671)Gat>Tat	p.D557Y	CASS4_ENST00000371336.3_Missense_Mutation_p.D557Y|CASS4_ENST00000434344.1_Intron	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	557					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GAACAGCCCAGATGACCTTGA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	84	87			NA	NA	20		NA											NA				55027901		2203	4300	6503	SO:0001583	missense			AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589	57091	57091		Cas scaffolding proteins	15878	protein-coding gene	gene with protein product	HEF-like protein, HEF1-Efs-p130Cas-like		chromosome 20 open reading frame 32	C20orf32	NA		Standard	NM_020356	NM_020356	NA	Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.1669G>T	20.37:g.55027901G>T	ENSP00000353462:p.Asp557Tyr	NA	E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	37	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875157	0.91664	.	.	ENSG00000087589	ENST00000360314;ENST00000371336	T;T	0.36878	1.23;1.23	6.17	6.17	0.99709	Serine rich protein interaction (1);	0.000000	0.85682	D	0.000000	T	0.67924	0.2945	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.69840	-0.5036	10	0.87932	D	0	-26.0262	20.8794	0.99867	0.0:0.0:1.0:0.0	.	503;557;557	B4DII4;Q9NQ75-2;Q9NQ75	.;.;CASS4_HUMAN	Y	557	ENSP00000353462:D557Y;ENSP00000360387:D557Y	ENSP00000353462:D557Y	D	+	1	0	CASS4	54461308	1.000000	0.71417	0.962000	0.40283	0.994000	0.84299	8.912000	0.92726	2.941000	0.99782	0.655000	0.94253	GAT	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079789.2		+	ENST00000360314.3	Missense_Mutation	SNP	20 : 55027901 - 55027901 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	369	31
MRPL13	28998	broad.mit.edu	37	8	121426282	121426282	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:121426282G>A	ENST00000306185.3	-	6	754	c.463C>T	c.(463-465)Cta>Tta	p.L155L		NM_014078.5	NP_054797.2	Q9BYD1	RM13_HUMAN	mitochondrial ribosomal protein L13	155					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TACTCATCTAGACGTTTAGGT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	151	154			NA	NA	8		NA											NA				121426282		2203	4300	6503	SO:0001819	synonymous_variant			AB049640	CCDS6332.1	8q22.1-q22.3	2012-09-13			ENSG00000172172	ENSG00000172172	28998	28998		Mitochondrial ribosomal proteins / large subunits	14278	protein-coding gene	gene with protein product		610200			NA	11543634	Standard	NM_014078	NM_014078	NA	Approved	L13, RPL13, L13mt, RPML13, L13A	uc003ypa.3	Q9BYD1	OTTHUMG00000165039	ENST00000306185.3:c.463C>T	8.37:g.121426282G>A		NA	B2R4R8|Q9UI04	37	CCDS6332.1																																																																																			MRPL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381523.1		-	ENST00000306185.3	Silent	SNP	8 : 121426282 - 121426282 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	428	79
JARID2	3720	broad.mit.edu	37	6	15468794	15468794	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:15468794G>T	ENST00000341776.2	+	5	759	c.515G>T	c.(514-516)aGc>aTc	p.S172I	JARID2_ENST00000397311.3_5'UTR|JARID2_ENST00000541660.1_Missense_Mutation_p.S134I	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	172					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	p.S172I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CTGCCCAACAGCATGGTGTAT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											109	95	100			NA	NA	6		NA											NA				15468794		2203	4300	6503	SO:0001583	missense			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083	3720	3720			6196	protein-coding gene	gene with protein product		601594	jumonji (mouse) homolog, Jumonji, AT rich interactive domain 2	JMJ	NA	8894700	Standard	NM_004973	NM_001267040	NA	Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.515G>T	6.37:g.15468794G>T	ENSP00000341280:p.Ser172Ile	NA	A8K9Z6|B7Z5S5|Q5U5L5|Q86X63	37	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.712770	0.68730	.	.	ENSG00000008083	ENST00000538175;ENST00000341776;ENST00000541660	T;T	0.36157	1.27;1.27	4.94	1.69	0.24217	.	0.209292	0.47852	D	0.000207	T	0.13157	0.0319	L	0.27053	0.805	0.80722	D	1	P;P;P	0.49559	0.925;0.694;0.694	P;B;B	0.44990	0.466;0.368;0.189	T	0.03268	-1.1054	10	0.66056	D	0.02	-4.0147	5.499	0.16819	0.6353:0.0:0.3647:0.0	.	134;36;172	F5H590;B7Z7X9;Q92833	.;.;JARD2_HUMAN	I	36;172;134	ENSP00000341280:S172I;ENSP00000444623:S134I	ENSP00000341280:S172I	S	+	2	0	JARID2	15576773	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.041000	0.49807	0.504000	0.28082	0.650000	0.86243	AGC	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039926.1		+	ENST00000341776.2	Missense_Mutation	SNP	6 : 15468794 - 15468794 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	337	46
ZNRF3	84133	broad.mit.edu	37	22	29446426	29446426	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29446426G>A	ENST00000544604.2	+	8	2432	c.2257G>A	c.(2257-2259)Gga>Aga	p.G753R	ZNRF3_ENST00000402174.1_Missense_Mutation_p.G653R|ZNRF3_ENST00000406323.3_Missense_Mutation_p.G653R|ZNRF3_ENST00000332811.4_Missense_Mutation_p.G653R	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	753						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GCCCCAGTCAGGAAGCTCCCA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	15	14			NA	NA	22		NA											NA				29446426		1851	4004	5855	SO:0001583	missense			AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579	84133	84133		RING-type (C3HC4) zinc fingers	18126	protein-coding gene	gene with protein product		612062			NA	10574461	Standard	XM_290972	NM_032173	NA	Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.2257G>A	22.37:g.29446426G>A	ENSP00000443824:p.Gly753Arg	NA	Q6ICH1|Q6NTF8|Q8WU18	37	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.664858	0.29604	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.07	4.05	0.47172	.	0.507057	0.20123	N	0.098748	T	0.80649	0.4663	L	0.51422	1.61	0.20489	N	0.999896	D	0.61697	0.99	P	0.58780	0.845	T	0.71497	-0.4575	10	0.87932	D	0	-6.7721	9.2661	0.37641	0.1644:0.0:0.8356:0.0	.	753	Q9ULT6	ZNRF3_HUMAN	R	753;653;460;653;653	ENSP00000443824:G753R;ENSP00000328614:G653R;ENSP00000384456:G653R;ENSP00000384553:G653R	ENSP00000328614:G653R	G	+	1	0	ZNRF3	27776426	0.999000	0.42202	0.053000	0.19242	0.075000	0.17131	3.091000	0.50199	1.267000	0.44247	0.655000	0.94253	GGA	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320943.2		+	ENST00000544604.2	Missense_Mutation	SNP	22 : 29446426 - 29446426 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	269	59
TTN	7273	broad.mit.edu	37	2	179616447	179616447	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179616447A>G	ENST00000589042.1	-	47	11536				TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Silent_p.H3560H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	NA							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGAAGAGTGATGGTGTAAAT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	78	77			NA	NA	2		NA											NA				179616447		2203	4298	6501	SO:0001627	intron_variant			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.11311+1403T>C	2.37:g.179616447A>G		NA	E7ET18	37	CCDS59435.1																																																																																			TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Intron	SNP	2 : 179616447 - 179616447 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	456	98
GABBR2	9568	broad.mit.edu	37	9	101304292	101304292	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101304292C>T	ENST00000259455.2	-	3	952	c.493G>A	c.(493-495)Gat>Aat	p.D165N	GABBR2_ENST00000477471.1_5'UTR	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	165					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TTTTTCTTATCGGCTAGAACA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	63	65			NA	NA	9		NA											NA				101304292		2203	4300	6503	SO:0001583	missense			AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928	9568	9568		GABA receptors, GPCR / Class C : GABA(B) receptors	4507	protein-coding gene	gene with protein product		607340	G protein-coupled receptor 51	GPR51	NA	10087195	Standard		NM_005458	NA	Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.493G>A	9.37:g.101304292C>T	ENSP00000259455:p.Asp165Asn	NA	O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	37	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004770	0.35320	.	.	ENSG00000136928	ENST00000259455	T	0.28069	1.63	5.39	5.39	0.77823	Extracellular ligand-binding receptor (1);	0.052758	0.64402	D	0.000001	T	0.38585	0.1046	N	0.20304	0.555	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.08785	-1.0705	10	0.12766	T	0.61	.	16.6427	0.85130	0.0:1.0:0.0:0.0	.	165	O75899	GABR2_HUMAN	N	165	ENSP00000259455:D165N	ENSP00000259455:D165N	D	-	1	0	GABBR2	100344113	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.703000	0.84585	2.538000	0.85594	0.655000	0.94253	GAT	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053373.1		-	ENST00000259455.2	Missense_Mutation	SNP	9 : 101304292 - 101304292 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	269	61
TFIP11	24144	broad.mit.edu	37	22	26888122	26888122	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26888122C>T	ENST00000407690.1	-	15	2654	c.2371G>A	c.(2371-2373)Gtc>Atc	p.V791I	SRRD_ENST00000215917.7_3'UTR|TFIP11_ENST00000405938.1_Missense_Mutation_p.V791I|TFIP11_ENST00000407148.1_Missense_Mutation_p.V791I|TFIP11_ENST00000407431.1_Missense_Mutation_p.V791I	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	791					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						TTCCCAATGACGGGCATGAAG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	89	103			NA	NA	22		NA											NA				26888122		2203	4300	6503	SO:0001583	missense			AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109	24144	24144		G patch domain containing	17165	protein-coding gene	gene with protein product		612747			NA	10806191, 11230166	Standard	NM_001008697	NM_012143	NA	Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.2371G>A	22.37:g.26888122C>T	ENSP00000384421:p.Val791Ile	NA	O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	37	CCDS13838.1	.	.	.	.	.	.	.	.	.	.	C	1.865	-0.461641	0.04508	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000442693;ENST00000405938	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.39	4.38	0.52667	.	0.319967	0.34986	N	0.003532	T	0.19127	0.0459	N	0.03154	-0.405	0.36149	D	0.8473	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.12426	-1.0548	10	0.28530	T	0.3	-46.7661	9.261	0.37612	0.0:0.7793:0.1446:0.0761	.	791;150	Q9UBB9;Q9UBB9-2	TFP11_HUMAN;.	I	791;791;791;476;791	ENSP00000384421:V791I;ENSP00000383892:V791I;ENSP00000385861:V791I;ENSP00000384297:V791I	ENSP00000384297:V791I	V	-	1	0	TFIP11	25218122	0.151000	0.22747	0.899000	0.35326	0.894000	0.52154	0.442000	0.21628	1.515000	0.48885	-0.137000	0.14449	GTC	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320750.1		-	ENST00000407690.1	Missense_Mutation	SNP	22 : 26888122 - 26888122 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	302	57
AC024592.12	0	broad.mit.edu	37	19	5896970	5896970	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5896970G>A	ENST00000586349.1	-	2	130	c.131C>T	c.(130-132)tCc>tTc	p.S44F	NDUFA11_ENST00000418389.2_Missense_Mutation_p.P46S|FUT5_ENST00000252675.5_5'UTR|NDUFA11_ENST00000308961.4_Missense_Mutation_p.P46S|NDUFA11_ENST00000592634.1_Missense_Mutation_p.P46S						NA											NA						AAGGTGCCCGGAGGATTGAGT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	155	163			NA	NA	19		NA											NA				5896970		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000586349.1:c.131C>T	19.37:g.5896970G>A	ENSP00000466639:p.Ser44Phe	NA		37		.	.	.	.	.	.	.	.	.	.	G	9.076	0.998167	0.19043	.	.	ENSG00000174886	ENST00000418389;ENST00000308961	.	.	.	3.96	-3.07	0.05363	.	0.063491	0.64402	U	0.000005	T	0.40448	0.1117	M	0.72118	2.19	0.09310	N	1	B;B	0.21905	0.021;0.062	B;B	0.27170	0.021;0.077	T	0.37979	-0.9682	9	0.54805	T	0.06	.	6.2097	0.20621	0.178:0.5014:0.3205:0.0	.	46;46	Q86Y39;C9JT23	NDUAB_HUMAN;.	S	46	.	ENSP00000311740:P46S	P	-	1	0	NDUFA11	5847970	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.073000	0.14640	-0.708000	0.05015	-0.693000	0.03709	CCG	AC024592.12-002	PUTATIVE	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_candidate_longest|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000452249.1		-	ENST00000586349.1	Missense_Mutation	SNP	19 : 5896970 - 5896970 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	848	144
GLIPR2	152007	broad.mit.edu	37	9	36148567	36148567	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36148567C>A	ENST00000377960.4	+	3	180	c.146C>A	c.(145-147)aCg>aAg	p.T49K	GLIPR2_ENST00000396613.3_3'UTR|GLIPR2_ENST00000474050.1_3'UTR|GLIPR2_ENST00000377959.1_Missense_Mutation_p.T49K	NM_022343.2	NP_071738.1	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2	49						extracellular region|Golgi membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						CTGGCCAGCACGAGGATCCTC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	83	88			NA	NA	9		NA											NA				36148567		2203	4300	6503	SO:0001583	missense			AY039756	CCDS6598.1, CCDS69595.1, CCDS75832.1, CCDS75833.1	9p13.3	2008-08-15	2008-08-15	2008-08-15	ENSG00000122694	ENSG00000122694	152007	152007			18007	protein-coding gene	gene with protein product		607141	chromosome 9 open reading frame 19	C9orf19	NA	12137952, 11865038	Standard	NM_022343	NM_022343	NA	Approved	GAPR-1	uc003zyz.3	Q9H4G4	OTTHUMG00000019900	ENST00000377960.4:c.146C>A	9.37:g.36148567C>A	ENSP00000367196:p.Thr49Lys	NA	Q5VZR1|Q8N2S6|Q8WWC9|Q8WX36	37	CCDS6598.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921361	0.52653	.	.	ENSG00000122694	ENST00000377959;ENST00000377960	T;T	0.40476	1.03;2.56	5.61	5.61	0.85477	CAP domain (3);	0.196919	0.52532	D	0.000064	T	0.46034	0.1372	L	0.39898	1.24	0.80722	D	1	D;D;D;B	0.76494	0.999;0.999;0.989;0.035	P;P;P;B	0.58266	0.836;0.817;0.534;0.022	T	0.22034	-1.0228	10	0.05620	T	0.96	-10.0846	15.4923	0.75619	0.0:1.0:0.0:0.0	.	49;246;49;49	B4DQC5;D3DRP5;Q9H4G4;Q5VZR0	.;.;GAPR1_HUMAN;.	K	49	ENSP00000367195:T49K;ENSP00000367196:T49K	ENSP00000367195:T49K	T	+	2	0	GLIPR2	36138567	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.260000	0.65490	2.793000	0.96121	0.655000	0.94253	ACG	GLIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052414.1		+	ENST00000377960.4	Missense_Mutation	SNP	9 : 36148567 - 36148567 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	209	20
DSC3	1825	broad.mit.edu	37	18	28576801	28576801	+	Missense_Mutation	SNP	T	T	G	rs115171596	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28576801T>G	ENST00000360428.4	-	15	2529	c.2449A>C	c.(2449-2451)Act>Cct	p.T817P	DSC3_ENST00000434452.1_Missense_Mutation_p.T817P	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	817					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TCCGAGTAAGTGTATCTGCAG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	87	92			NA	NA	18		NA											NA				28576801		2203	4300	6503	SO:0001583	missense			X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762	1825	1825		Cadherins / Major cadherins	3037	protein-coding gene	gene with protein product		600271		DSC4	NA	7774948, 8486729	Standard	NM_001941, NM_024423	NM_001941	NA	Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.2449A>C	18.37:g.28576801T>G	ENSP00000353608:p.Thr817Pro	NA	A6NN35|Q14200|Q9HAZ9	37	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	T	7.387	0.630069	0.14257	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.77098	-1.07;0.36	4.57	2.14	0.27477	Cadherin, cytoplasmic domain (1);	0.499351	0.14992	N	0.286653	D	0.84202	0.5420	M	0.76838	2.35	0.24595	N	0.993807	D;D	0.67145	0.983;0.996	D;D	0.67725	0.917;0.953	T	0.72513	-0.4270	10	0.72032	D	0.01	.	5.1958	0.15236	0.1406:0.1556:0.0:0.7039	.	817;817	Q14574;Q14574-2	DSC3_HUMAN;.	P	817	ENSP00000353608:T817P;ENSP00000392068:T817P	ENSP00000353608:T817P	T	-	1	0	DSC3	26830799	0.994000	0.37717	0.554000	0.28268	0.608000	0.37181	1.385000	0.34408	0.346000	0.23899	0.533000	0.62120	ACT	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447384.1		-	ENST00000360428.4	Missense_Mutation	SNP	18 : 28576801 - 28576801 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	392	64
SLC16A12	387700	broad.mit.edu	37	10	91195956	91195956	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91195956A>C	ENST00000371790.4	-	7	1449	c.1149T>G	c.(1147-1149)ttT>ttG	p.F383L	SLC16A12_ENST00000341233.4_Missense_Mutation_p.F353L			Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	353						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						CAAAGTAGCCAAAGGTACAAG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	99	108			NA	NA	10		NA											NA				91195956		2203	4300	6503	SO:0001583	missense				CCDS7404.1, CCDS7404.2	10q23.32	2013-07-18	2013-07-18		ENSG00000152779	ENSG00000152779	387700	387700		Solute carriers	23094	protein-coding gene	gene with protein product	monocarboxylic acid transporter 12	611910	solute carrier family 16 (monocarboxylic acid transporters), member 12, solute carrier family 16, member 12 (monocarboxylic acid transporter 12)		NA		Standard	NM_213606	NM_213606	NA	Approved	MCT12	uc001kgm.3	Q6ZSM3	OTTHUMG00000018714	ENST00000371790.4:c.1149T>G	10.37:g.91195956A>C	ENSP00000360855:p.Phe383Leu	NA	Q5M9M9|Q5T7J2|Q6ZV76	37	CCDS7404.2	.	.	.	.	.	.	.	.	.	.	A	22.2	4.252196	0.80135	.	.	ENSG00000152779	ENST00000341233;ENST00000371790	T;T	0.11495	2.77;2.77	5.91	4.78	0.61160	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.057555	0.64402	D	0.000001	T	0.12987	0.0315	L	0.55017	1.72	0.48395	D	0.999646	P	0.44090	0.826	B	0.42462	0.388	T	0.06110	-1.0845	10	0.28530	T	0.3	.	11.1741	0.48588	0.9288:0.0:0.0712:0.0	.	353	Q6ZSM3	MOT12_HUMAN	L	353;383	ENSP00000343022:F353L;ENSP00000360855:F383L	ENSP00000343022:F353L	F	-	3	2	SLC16A12	91185936	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.235000	0.51328	1.062000	0.40625	0.533000	0.62120	TTT	SLC16A12-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049304.3		-	ENST00000371790.4	Missense_Mutation	SNP	10 : 91195956 - 91195956 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	260	56
GBAS	2631	broad.mit.edu	37	7	56051523	56051523	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56051523G>A	ENST00000446778.1	+	4	459	c.430G>A	c.(430-432)Gga>Aga	p.G144R	GBAS_ENST00000322090.3_Missense_Mutation_p.G183R	NM_001202469.1	NP_001189398.1	O75323	NIPS2_HUMAN	glioblastoma amplified sequence	183						integral to plasma membrane|membrane fraction|mitochondrion	protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCCAAGATCCGGACCTAATAT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	85	84			NA	NA	7		NA											NA				56051523		2203	4300	6503	SO:0001583	missense			AF029786	CCDS5521.1, CCDS56488.1	7p12	2014-03-11			ENSG00000146729	ENSG00000146729	2631	2631			4179	protein-coding gene	gene with protein product		603004			NA	9615231, 9661659, 20888800	Standard	NM_001483	NM_001483	NA	Approved	NIPSNAP2	uc003tre.2	O75323	OTTHUMG00000022932	ENST00000446778.1:c.430G>A	7.37:g.56051523G>A	ENSP00000406855:p.Gly144Arg	NA	O43801|Q53X96	37	CCDS56488.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743963	0.89663	.	.	ENSG00000146729	ENST00000446692;ENST00000322090;ENST00000446778;ENST00000437587	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	4.81	4.81	0.61882	Dimeric alpha-beta barrel (1);	0.254452	0.45867	D	0.000337	T	0.68714	0.3031	M	0.87456	2.885	0.80722	D	1	D;D	0.69078	0.997;0.99	P;P	0.61940	0.896;0.657	T	0.68671	-0.5347	10	0.20046	T	0.44	-16.0315	17.0441	0.86497	0.0:0.0:1.0:0.0	.	144;183	C9IYJ3;O75323	.;NIPS2_HUMAN	R	43;183;144;43	ENSP00000406336:G43R;ENSP00000313050:G183R;ENSP00000406855:G144R;ENSP00000401185:G43R	ENSP00000313050:G183R	G	+	1	0	GBAS	56019017	1.000000	0.71417	0.973000	0.42090	0.682000	0.39822	9.365000	0.97139	2.497000	0.84241	0.650000	0.86243	GGA	GBAS-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343274.1		+	ENST00000446778.1	Missense_Mutation	SNP	7 : 56051523 - 56051523 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	455	65
ACAD9	28976	broad.mit.edu	37	3	128621399	128621399	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128621399G>A	ENST00000308982.7	+	9	967	c.886G>A	c.(886-888)Gcc>Acc	p.A296T	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	296						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						CCTGCAGGTGGCCATGAACAT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	96	98			NA	NA	3		NA											NA				128621399		2203	4300	6503	SO:0001583	missense			AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646	28976	28976		Mitochondrial respiratory chain complex assembly factors	21497	protein-coding gene	gene with protein product		611103	acyl-Coenzyme A dehydrogenase family, member 9		NA	12359260, 21057504, 20816094	Standard	NM_014049	NM_014049	NA	Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.886G>A	3.37:g.128621399G>A	ENSP00000312618:p.Ala296Thr	NA	D3DNB8|Q8WXX3	37	CCDS3053.1	.	.	.	.	.	.	.	.	.	.	G	35	5.578975	0.96565	.	.	ENSG00000177646	ENST00000308982;ENST00000334167	D	0.96913	-4.17	5.19	5.19	0.71726	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.98388	0.9464	M	0.90198	3.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.99533	1.0961	10	0.87932	D	0	.	16.1964	0.82029	0.0:0.0:1.0:0.0	.	173;246;296	Q9H9W4;Q59FN3;Q9H845	.;.;ACAD9_HUMAN	T	296;163	ENSP00000312618:A296T	ENSP00000312618:A296T	A	+	1	0	ACAD9	130104089	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.018000	0.93657	2.412000	0.81896	0.655000	0.94253	GCC	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358405.1		+	ENST00000308982.7	Missense_Mutation	SNP	3 : 128621399 - 128621399 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	491	86
LLGL1	3996	broad.mit.edu	37	17	18141066	18141066	+	Missense_Mutation	SNP	G	G	A	rs144655159		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18141066G>A	ENST00000316843.4	+	14	1979	c.1883G>A	c.(1882-1884)cGc>cAc	p.R628H		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	628				FDYQRK -> L (in Ref. 1; CAA60130).	cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GACTACCAGCGCAAGAGCCCT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	0,4406		0,0,2203	42	33	36		1883	4.6	1	17	dbSNP_134	36	2,8598	2.2+/-6.3	0,2,4298	no	missense	LLGL1	NM_004140.3	29	0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154	probably-damaging	628/1065	18141066	2,13004	2203	4300	6503	SO:0001583	missense				CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899	3996	3996		WD repeat domain containing	6628	protein-coding gene	gene with protein product		600966	lethal giant larvae (Drosophila) homolog 1	DLG4, LLGL, HUGL, HUGL-1	NA	7542763, 8565641	Standard		XM_005256643	NA	Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.1883G>A	17.37:g.18141066G>A	ENSP00000321537:p.Arg628His	NA	A7MBM7|O00188|Q58F11|Q86UK6	37	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552439	0.86127	0.0	2.33E-4	ENSG00000131899	ENST00000316843	T	0.36157	1.27	5.53	4.57	0.56435	WD40/YVTN repeat-like-containing domain (1);	0.048555	0.85682	D	0.000000	T	0.52964	0.1767	L	0.55481	1.735	0.53005	D	0.999966	D	0.89917	1.0	D	0.66602	0.945	T	0.55749	-0.8092	10	0.62326	D	0.03	-30.1925	14.2074	0.65744	0.0716:0.0:0.9284:0.0	.	628	Q15334	L2GL1_HUMAN	H	628	ENSP00000321537:R628H	ENSP00000321537:R628H	R	+	2	0	LLGL1	18081791	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.464000	0.53057	1.366000	0.46076	0.561000	0.74099	CGC	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132067.3		+	ENST00000316843.4	Missense_Mutation	SNP	17 : 18141066 - 18141066 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	257	21
LRP1B	53353	broad.mit.edu	37	2	141747212	141747212	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141747212G>A	ENST00000389484.3	-	17	3630	c.2659C>T	c.(2659-2661)Cct>Tct	p.P887S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	887	LDL-receptor class A 4.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGATCATCAGGACAGCTATGA	0.383		NA								TSP Lung(27;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(99;50 2074 2507 20106)							NA				0													115	107	110			NA	NA	2		NA											NA				141747212		2203	4300	6503	SO:0001583	missense			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702	53353	53353		Low density lipoprotein receptors	6693	protein-coding gene	gene with protein product	LRP-deleted in tumors	608766			NA	10766186	Standard	NM_018557	NM_018557	NA	Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2659C>T	2.37:g.141747212G>A	ENSP00000374135:p.Pro887Ser	NA	Q8WY29|Q8WY30|Q8WY31	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.815714	0.70912	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95001	-3.58	5.69	5.69	0.88448	.	0.000000	0.85682	U	0.000000	D	0.91399	0.7286	N	0.21508	0.67	0.52501	D	0.999958	P	0.45672	0.864	P	0.48368	0.575	D	0.87747	0.2589	10	0.02654	T	1	.	20.181	0.98201	0.0:0.0:1.0:0.0	.	887	Q9NZR2	LRP1B_HUMAN	S	887;825	ENSP00000374135:P887S	ENSP00000374135:P887S	P	-	1	0	LRP1B	141463682	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.748000	0.85085	2.840000	0.97914	0.655000	0.94253	CCT	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254736.2		-	ENST00000389484.3	Missense_Mutation	SNP	2 : 141747212 - 141747212 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	543	42
TNFRSF19	55504	broad.mit.edu	37	13	24200923	24200923	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24200923A>C	ENST00000382263.3	+	5	621	c.437A>C	c.(436-438)gAa>gCa	p.E146A	TNFRSF19_ENST00000403372.2_Missense_Mutation_p.E14A|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.E146A|TNFRSF19_ENST00000382258.4_Missense_Mutation_p.E146A	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	146					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)		CCTCCTTACGAACCGCACTGT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	84	89			NA	NA	13		NA											NA				24200923		2203	4300	6503	SO:0001583	missense			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.437A>C	13.37:g.24200923A>C	ENSP00000371698:p.Glu146Ala	NA	B1AM40|B1AM41|Q9BXZ9|Q9BY00|Q9NZV2	37	CCDS9301.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.209581	0.58343	.	.	ENSG00000127863	ENST00000248484;ENST00000403372;ENST00000382258;ENST00000382263	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.52581	0.1743	M	0.79475	2.455	0.47214	D	0.999354	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.987;0.987	T	0.54563	-0.8275	10	0.48119	T	0.1	-26.9284	15.3132	0.74053	1.0:0.0:0.0:0.0	.	14;146;146	B4E2I6;Q9NS68;Q9NS68-2	.;TNR19_HUMAN;.	A	146;14;146;146	ENSP00000248484:E146A;ENSP00000385408:E14A;ENSP00000371693:E146A;ENSP00000371698:E146A	ENSP00000248484:E146A	E	+	2	0	TNFRSF19	23098923	1.000000	0.71417	0.966000	0.40874	0.081000	0.17604	7.651000	0.83577	2.108000	0.64289	0.477000	0.44152	GAA	TNFRSF19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044157.2		+	ENST00000382263.3	Missense_Mutation	SNP	13 : 24200923 - 24200923 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	29
TAS1R1	80835	broad.mit.edu	37	1	6639462	6639462	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6639462G>A	ENST00000333172.6	+	6	2537	c.2344G>A	c.(2344-2346)Gtc>Atc	p.V782I	TAS1R1_ENST00000328191.4_3'UTR|TAS1R1_ENST00000351136.3_Missense_Mutation_p.V528I	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	782					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CACGGCCAGCGTCTACGACGG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	107	114			NA	NA	1		NA											NA				6639462		2203	4300	6503	SO:0001583	missense				CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662	NA	80835		Taste receptors / Type 1, GPCR / Unclassified : Taste receptors	14448	protein-coding gene	gene with protein product		606225	G protein-coupled receptor 70	GPR70	NA		Standard		NM_138697	NA	Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.2344G>A	1.37:g.6639462G>A	ENSP00000331867:p.Val782Ile	NA	B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	37	CCDS81.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.486|3.486	-0.104955|-0.104955	0.06967|0.06967	.|.	.|.	ENSG00000173662|ENSG00000173662	ENST00000415267|ENST00000333172;ENST00000351136	.|D;D	.|0.88046	.|-2.33;-2.33	5.18|5.18	1.56|1.56	0.23342|0.23342	.|GPCR, family 3, C-terminal (2);	.|0.658638	.|0.14093	.|N	.|0.341843	T|T	0.73094|0.73094	0.3543|0.3543	L|L	0.35341|0.35341	1.055|1.055	0.22796|0.22796	N|N	0.998728|0.998728	.|P;B	.|0.39862	.|0.692;0.056	.|B;B	.|0.31390	.|0.129;0.022	T|T	0.65541|0.65541	-0.6143|-0.6143	5|10	.|0.52906	.|T	.|0.07	.|.	1.6027|1.6027	0.02678|0.02678	0.4112:0.1318:0.3228:0.1342|0.4112:0.1318:0.3228:0.1342	.|.	.|528;782	.|Q7RTX1-2;Q7RTX1	.|.;TS1R1_HUMAN	H|I	239|782;528	.|ENSP00000331867:V782I;ENSP00000312558:V528I	.|ENSP00000331867:V782I	R|V	+|+	2|1	0|0	TAS1R1|TAS1R1	6562049|6562049	0.000000|0.000000	0.05858|0.05858	0.427000|0.427000	0.26684|0.26684	0.151000|0.151000	0.21798|0.21798	-0.070000|-0.070000	0.11523|0.11523	0.295000|0.295000	0.22570|0.22570	0.591000|0.591000	0.81541|0.81541	CGT|GTC	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000004211.1		+	ENST00000333172.6	Missense_Mutation	SNP	1 : 6639462 - 6639462 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	466	45
NAP1L1	4673	broad.mit.edu	37	12	76442238	76442238	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76442238G>A	ENST00000261182.8	-	15	1633	c.1147C>T	c.(1147-1149)Caa>Taa	p.Q383*	NAP1L1_ENST00000431879.3_Nonsense_Mutation_p.Q315*|NAP1L1_ENST00000544816.1_Nonsense_Mutation_p.Q200*|NAP1L1_ENST00000547773.1_Nonsense_Mutation_p.Q320*|NAP1L1_ENST00000542344.1_Nonsense_Mutation_p.Q341*|NAP1L1_ENST00000393263.3_Nonsense_Mutation_p.Q383*	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	383					DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				GCTGGGTTTTGATCCTTCTGT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													192	162	172			NA	NA	12		NA											NA				76442238		2203	4300	6503	SO:0001587	stop_gained				CCDS9013.1	12q21.1	2010-03-17			ENSG00000187109	ENSG00000187109	4673	4673			7637	protein-coding gene	gene with protein product		164060			NA	8297347	Standard	NM_139207	NM_004537	NA	Approved	NRP, NAP1, NAP1L, MGC8688, MGC23410	uc001sxx.2	P55209		ENST00000261182.8:c.1147C>T	12.37:g.76442238G>A	ENSP00000261182:p.Gln383*	NA		37	CCDS9013.1	.	.	.	.	.	.	.	.	.	.	G	37	6.613130	0.97705	.	.	ENSG00000187109	ENST00000261182;ENST00000552056;ENST00000393263;ENST00000431879;ENST00000547773;ENST00000544816;ENST00000542344	.	.	.	5.75	5.75	0.90469	.	0.602068	0.18452	N	0.140818	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	19.9462	0.97183	0.0:0.0:1.0:0.0	.	.	.	.	X	383;377;383;315;320;200;341	.	ENSP00000261182:Q383X	Q	-	1	0	NAP1L1	74728505	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.480000	0.73604	2.717000	0.92951	0.585000	0.79938	CAA	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405850.3		-	ENST00000261182.8	Nonsense_Mutation	SNP	12 : 76442238 - 76442238 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	620	123
RAPGEF5	9771	broad.mit.edu	37	7	22206738	22206738	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:22206738C>T	ENST00000401957.2	-	2	571	c.324G>A	c.(322-324)acG>acA	p.T108T	RAPGEF5_ENST00000344041.6_Silent_p.T258T			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	108	N-terminal Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						AGACAGTGTACGTGAGAAGGA	0.453		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	7		NA											NA				22206738		1941	4155	6096	SO:0001819	synonymous_variant			D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237	9771	9771			16862	protein-coding gene	gene with protein product	M-Ras-regulated GEF	609527			NA	9039502, 10486569	Standard	NM_012294	NM_012294	NA	Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000401957.2:c.324G>A	7.37:g.22206738C>T		NA	A4D140|Q8IXU5	37																																																																																				RAPGEF5-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000326590.2		-	ENST00000401957.2	Silent	SNP	7 : 22206738 - 22206738 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	128	18
TMEM161B	153396	broad.mit.edu	37	5	87498877	87498877	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:87498877G>A	ENST00000506536.1	-	8	772	c.270C>T	c.(268-270)atC>atT	p.I90I	TMEM161B_ENST00000509387.1_Silent_p.I145I|TMEM161B_ENST00000514135.1_Silent_p.I272I|TMEM161B_ENST00000511218.1_Silent_p.I90I|TMEM161B_ENST00000512429.1_Silent_p.I261I|TMEM161B_ENST00000296595.6_Silent_p.I272I			Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	272						integral to membrane				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		CCAAGAAGTTGATATGAAGTA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	113	116			NA	NA	5		NA											NA				87498877		2203	4300	6503	SO:0001819	synonymous_variant			BC037287	CCDS4065.1, CCDS75269.1, CCDS75270.1	5q14.3	2008-02-05			ENSG00000164180	ENSG00000164180	153396	153396			28483	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_153354	NM_001289008	NA	Approved	MGC33214	uc003kjc.3	Q8NDZ6	OTTHUMG00000131323	ENST00000506536.1:c.270C>T	5.37:g.87498877G>A		NA	Q5CZH7|Q6UWQ6	37																																																																																				TMEM161B-008	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000369941.1		-	ENST00000506536.1	Silent	SNP	5 : 87498877 - 87498877 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	392	63
KRT79	338785	broad.mit.edu	37	12	53227585	53227585	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53227585C>T	ENST00000330553.5	-	1	494	c.460G>A	c.(460-462)Gcc>Acc	p.A154T		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	154	Coil 1A.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATGAAGGAGGCGAACTTGTTG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	125	126			NA	NA	12		NA											NA				53227585		2203	4300	6503	SO:0001583	missense			AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640	338785	338785		-, Intermediate filaments type II, keratins (basic)	28930	protein-coding gene	gene with protein product	keratin 6-like	611160			NA	11683385	Standard	NM_175834	NM_175834	NA	Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.460G>A	12.37:g.53227585C>T	ENSP00000328358:p.Ala154Thr	NA	Q6P465|Q7Z793	37	CCDS8839.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474512	0.84640	.	.	ENSG00000185640	ENST00000330553	D	0.95205	-3.64	4.26	4.26	0.50523	Filament (1);	0.000000	0.48286	D	0.000188	D	0.98049	0.9357	H	0.95114	3.625	0.54753	D	0.999989	D	0.76494	0.999	D	0.76575	0.988	D	0.98942	1.0791	10	0.87932	D	0	.	16.9074	0.86131	0.0:1.0:0.0:0.0	.	154	Q5XKE5	K2C79_HUMAN	T	154	ENSP00000328358:A154T	ENSP00000328358:A154T	A	-	1	0	KRT79	51513852	1.000000	0.71417	0.976000	0.42696	0.725000	0.41563	7.602000	0.82796	2.643000	0.89663	0.591000	0.81541	GCC	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406376.1		-	ENST00000330553.5	Missense_Mutation	SNP	12 : 53227585 - 53227585 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1034	158
PARK2	5071	broad.mit.edu	37	6	162394349	162394349	+	Missense_Mutation	SNP	G	G	A	rs137853054		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:162394349G>A	ENST00000366898.1	-	6	821	c.719C>T	c.(718-720)aCg>aTg	p.T240M	PARK2_ENST00000366892.1_Missense_Mutation_p.T240M|PARK2_ENST00000366894.1_Missense_Mutation_p.T49M|PARK2_ENST00000366897.1_Missense_Mutation_p.T212M|PARK2_ENST00000338468.3_Missense_Mutation_p.T49M|PARK2_ENST00000366896.1_Missense_Mutation_p.T91M	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	240			T -> M (in PARK; late onset).|T -> R (in PARK2; impairs the ability to ubiquitinate SNCAIP and BCL2; loss of UBE2L3 binding; severely compromises the mitochondrial localization).		aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.T240M(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GTCTGTGCACGTAATGCAAGT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	GRCh37	CM030926|CM983422	PARK2	M	rs137853054	G	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	237	182	201	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	719,635,272	5.1	0.3	6	dbSNP_133	201	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	PARK2	NM_004562.2,NM_013987.2,NM_013988.2	81,81,81	0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	240/466,212/438,91/317	162394349	2,13004	2203	4300	6503	SO:0001583	missense				CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345	5071	5071		Parkinson disease	8607	protein-coding gene	gene with protein product	E3 ubiquitin ligase	602544	Parkinson disease (autosomal recessive, juvenile) 2, parkin, parkinson protein 2, E3 ubiquitin protein ligase (parkin)		NA	9560156, 9570960	Standard		NM_004562	NA	Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.719C>T	6.37:g.162394349G>A	ENSP00000355865:p.Thr240Met	NA	A3FG77|A8K975|Q5TFV8|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	37	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086777	0.55861	0.0	2.33E-4	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468;ENST00000392134;ENST00000366892;ENST00000366895	D;D;D;D;D;D	0.92858	-2.8;-2.91;-3.12;-2.51;-2.51;-2.88	5.14	5.14	0.70334	.	0.278693	0.35525	N	0.003154	D	0.92463	0.7607	L	0.56769	1.78	0.24015	N	0.99616	D;D;P;P;P	0.62365	0.991;0.965;0.933;0.884;0.94	P;P;B;B;B	0.59643	0.861;0.472;0.317;0.317;0.366	D	0.87630	0.2515	10	0.56958	D	0.05	.	15.9522	0.79850	0.0:0.0:1.0:0.0	.	240;91;212;240;49	O60260-5;Q5VVX3;Q5VVX4;O60260;Q8NI42	.;.;.;PRKN2_HUMAN;.	M	240;212;91;49;49;49;240;161	ENSP00000355865:T240M;ENSP00000355863:T212M;ENSP00000355862:T91M;ENSP00000355860:T49M;ENSP00000343589:T49M;ENSP00000355858:T240M	ENSP00000343589:T49M	T	-	2	0	PARK2	162314339	0.987000	0.35691	0.299000	0.25016	0.867000	0.49689	6.594000	0.74104	2.550000	0.86006	0.650000	0.86243	ACG	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042995.1		-	ENST00000366898.1	Missense_Mutation	SNP	6 : 162394349 - 162394349 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	306	68
CP	1356	broad.mit.edu	37	3	148925405	148925405	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148925405C>A	ENST00000264613.6	-	5	1044		c.e5-1			NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	NA					cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CCATTCACAGCTGTAAGTCAA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	59	59			NA	NA	3		NA											NA				148925405		2203	4300	6503	SO:0001630	splice_region_variant			M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1356	1356	1.16.3.1		2295	protein-coding gene	gene with protein product		117700			NA		Standard	NM_000096	NM_000096	NA	Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.782-1G>T	3.37:g.148925405C>A		NA	Q14063|Q2PP18|Q9UKS4	37	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115059	0.77210	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	.	.	.	6.05	6.05	0.98169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6087	0.99469	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CP	150408095	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.367000	0.79558	2.866000	0.98385	0.650000	0.86243	.	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317498.1	Intron	-	ENST00000264613.6	Splice_Site	SNP	3 : 148925405 - 148925405 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	48
ZCCHC14	23174	broad.mit.edu	37	16	87445750	87445750	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87445750C>T	ENST00000268616.4	-	12	2383	c.2166G>A	c.(2164-2166)acG>acA	p.T722T		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	722	Ser-rich.				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		AGCTGGGCAACGTGGCCATGT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	43	42			NA	NA	16		NA											NA				87445750		2198	4299	6497	SO:0001819	synonymous_variant			AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948	23174	23174		Zinc fingers, CCHC domain containing, Sterile alpha motif (SAM) domain containing	24134	protein-coding gene	gene with protein product					NA	9628581	Standard	NM_015144	XM_005255858	NA	Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.2166G>A	16.37:g.87445750C>T		NA	D3DUN1|O60324|Q3MJD8|Q9UFP0	37	CCDS10961.1																																																																																			ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269107.1		-	ENST00000268616.4	Silent	SNP	16 : 87445750 - 87445750 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	535	99
EPPK1	83481	broad.mit.edu	37	8	144947078	144947078	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144947078G>T	ENST00000525985.1	-	2	415	c.344C>A	c.(343-345)gCt>gAt	p.A115D				P58107	EPIPL_HUMAN	epiplakin 1	115						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCACGCTCAGCGGCCAGCAG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	30	28			NA	NA	8		NA											NA				144947078		2044	4185	6229	SO:0001583	missense			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150	83481	83481			15577	protein-coding gene	gene with protein product	epidermal autoantigen 450K	607553			NA	11278896, 15671067	Standard	NM_031308	NM_031308	NA	Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.344C>A	8.37:g.144947078G>T	ENSP00000436337:p.Ala115Asp	NA	Q76E58	37		.	.	.	.	.	.	.	.	.	.	G	16.71	3.197863	0.58126	.	.	ENSG00000227184	ENST00000525985	T	0.77620	-1.11	4.44	4.44	0.53790	.	.	.	.	.	D	0.88055	0.6334	M	0.83774	2.66	0.43308	D	0.99531	D	0.89917	1.0	D	0.80764	0.994	D	0.89571	0.3813	9	0.62326	D	0.03	.	14.5862	0.68326	0.0:0.0:1.0:0.0	.	115	E9PPU0	.	D	115	ENSP00000436337:A115D	ENSP00000436337:A115D	A	-	2	0	EPPK1	145019066	1.000000	0.71417	0.105000	0.21289	0.010000	0.07245	7.583000	0.82559	2.304000	0.77564	0.407000	0.27541	GCT	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000382675.1		-	ENST00000525985.1	Missense_Mutation	SNP	8 : 144947078 - 144947078 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	337	54
ATRX	546	broad.mit.edu	37	X	76939224	76939224	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:76939224G>A	ENST00000373344.5	-	9	1738	c.1524C>T	c.(1522-1524)aaC>aaT	p.N508N	ATRX_ENST00000395603.3_Silent_p.N470N|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	508					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTTCAGAAGTGTTGGCAGGTT	0.378		NA	Mis, F, N		Pancreatic neuroendocrine tumors, paediatric GBM		ATR-X (alpha thalassemia/mental retardation) syndrome							NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											211	212	212			NA	NA	X		NA											NA				76939224		2203	4296	6499	SO:0001819	synonymous_variant			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224	546	546			886	protein-coding gene	gene with protein product	RAD54 homolog (S. cerevisiae)	300032	alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog), Juberg-Marsidi syndrome	RAD54, JMS	NA	7874112, 1415255, 8503439, 8630485	Standard	NM_000489	NM_000489	NA	Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1524C>T	X.37:g.76939224G>A		NA	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	37	CCDS14434.1																																																																																			ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058860.2		-	ENST00000373344.5	Silent	SNP	X : 76939224 - 76939224 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1211	346
SPEG	10290	broad.mit.edu	37	2	220356957	220356957	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220356957C>T	ENST00000312358.7	+	40	9718	c.9586C>T	c.(9586-9588)Cga>Tga	p.R3196*	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	3196	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.R3196*(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCTCTTCTTGCGAAAGGTTCT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Nonsense(1)	upper_aerodigestive_tract(1)											80	87	85			NA	NA	2		NA											NA				220356957		2052	4177	6229	SO:0001587	stop_gained			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195	10290	10290		Immunoglobulin superfamily / I-set domain containing	16901	protein-coding gene	gene with protein product		615950	aortic preferentially expressed gene 1	APEG1	NA	8663449, 10973969	Standard	NM_005876	NM_005876	NA	Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.9586C>T	2.37:g.220356957C>T	ENSP00000311684:p.Arg3196*	NA	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	37	CCDS42824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.6|27.6	4.842842|4.842842	0.91197|0.91197	.|.	.|.	ENSG00000072195|ENSG00000072195	ENST00000412982|ENST00000312358;ENST00000265327	.|.	.|.	.|.	4.44|4.44	3.53|3.53	0.40419|0.40419	.|.	.|0.000000	.|0.33401	.|N	.|0.004949	T|.	0.34571|.	0.0902|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.13899|.	-1.0492|.	4|.	.|0.02654	.|T	.|1	.|.	13.0031|13.0031	0.58687|0.58687	0.1683:0.8317:0.0:0.0|0.1683:0.8317:0.0:0.0	.|.	.|.	.|.	.|.	V|X	43|3196	.|.	.|ENSP00000265327:R3196X	A|R	+|+	2|1	0|2	SPEG|SPEG	220065201|220065201	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	2.403000|2.403000	0.44530|0.44530	1.033000|1.033000	0.39918|0.39918	0.467000|0.467000	0.42956|0.42956	GCG|CGA	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130252.2		+	ENST00000312358.7	Nonsense_Mutation	SNP	2 : 220356957 - 220356957 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	459	119
GRIN3A	116443	broad.mit.edu	37	9	104432737	104432737	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104432737A>C	ENST00000361820.3	-	3	2557	c.1957T>G	c.(1957-1959)Ttg>Gtg	p.L653V		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	653					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AAGATGCCCAAGCTGGTGGAG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	79	78			NA	NA	9		NA											NA				104432737		2203	4300	6503	SO:0001583	missense				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785	116443	116443		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	16767	protein-coding gene	gene with protein product		606650			NA		Standard		NM_133445	NA	Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1957T>G	9.37:g.104432737A>C	ENSP00000355155:p.Leu653Val	NA	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	37	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	A	16.48	3.134427	0.56828	.	.	ENSG00000198785	ENST00000361820	T	0.51574	0.7	5.63	4.5	0.54988	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.64402	D	0.000004	T	0.55862	0.1947	L	0.41961	1.31	0.53688	D	0.99997	P	0.47191	0.891	P	0.59825	0.864	T	0.54098	-0.8344	10	0.46703	T	0.11	.	11.7737	0.51972	0.931:0.0:0.069:0.0	.	653	Q8TCU5	NMD3A_HUMAN	V	653	ENSP00000355155:L653V	ENSP00000355155:L653V	L	-	1	2	GRIN3A	103472558	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.160000	0.64929	1.084000	0.41184	0.473000	0.43528	TTG	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053453.1		-	ENST00000361820.3	Missense_Mutation	SNP	9 : 104432737 - 104432737 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	90
MOB3A	126308	broad.mit.edu	37	19	2076839	2076839	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2076839G>T	ENST00000357066.3	-	4	974	c.595C>A	c.(595-597)Ctc>Atc	p.L199I	MOB3A_ENST00000592280.1_Missense_Mutation_p.L199I|MOB3A_ENST00000592143.1_Intron	NM_130807.2	NP_570719.1	Q96BX8	MOL2A_HUMAN	MOB kinase activator 3A	199						intracellular	metal ion binding				NA						GTGTCGATGAGGCCGAACTCC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	67	70			NA	NA	19		NA											NA				2076839		2203	4300	6503	SO:0001583	missense			AK095471	CCDS12081.1	19p13.3	2011-09-28	2011-09-28	2011-09-28	ENSG00000172081	ENSG00000172081	126308	126308		MOB kinase activators	29802	protein-coding gene	gene with protein product	MOB LAK		MOB1, Mps One Binder kinase activator-like 2A (yeast)	MOBKL2A	NA	12477932	Standard	NM_130807	NM_130807	NA	Approved	MOB1C, MOB-LAK, moblak	uc002luv.3	Q96BX8		ENST00000357066.3:c.595C>A	19.37:g.2076839G>T	ENSP00000349575:p.Leu199Ile	NA	B3KTF1|O75249|Q8TF69	37	CCDS12081.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350545	0.82132	.	.	ENSG00000172081	ENST00000357066	.	.	.	3.5	3.5	0.40072	.	0.000000	0.64402	D	0.000001	T	0.77890	0.4198	M	0.89601	3.045	0.58432	D	0.999996	P	0.39157	0.662	P	0.56216	0.794	T	0.80032	-0.1552	9	0.66056	D	0.02	-53.1518	7.9122	0.29798	0.1187:0.0:0.8813:0.0	.	199	Q96BX8	MOB3A_HUMAN	I	199	.	ENSP00000349575:L199I	L	-	1	0	MOBKL2A	2027839	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	6.244000	0.72391	1.816000	0.52996	0.491000	0.48974	CTC	MOB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450893.1		-	ENST00000357066.3	Missense_Mutation	SNP	19 : 2076839 - 2076839 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	277	51
OPA3	80207	broad.mit.edu	37	19	46087992	46087992	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46087992G>T	ENST00000263275.4	-	1	85	c.31C>A	c.(31-33)Ctg>Atg	p.L11M	OPA3_ENST00000544371.1_Intron|OPA3_ENST00000323060.3_Missense_Mutation_p.L11M	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	11					response to stimulus|visual perception	mitochondrion				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		AAGTATAGCAGCTTCGCCATA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	57	58			NA	NA	19		NA											NA				46087992		2203	4300	6503	SO:0001583	missense			AK025840	CCDS12668.1, CCDS33052.1	19q13.2-q13.3	2014-01-28				ENSG00000125741	80207	80207			8142	protein-coding gene	gene with protein product		606580			NA	9097959, 11668429	Standard		NM_001017989	NA	Approved	FLJ22187, MGA3	uc002pcj.4	Q9H6K4		ENST00000263275.4:c.31C>A	19.37:g.46087992G>T	ENSP00000263275:p.Leu11Met	NA	Q6P384|Q8N784	37	CCDS12668.1	.	.	.	.	.	.	.	.	.	.	G	34	5.323742	0.95708	.	.	ENSG00000125741	ENST00000323060;ENST00000263275	D;D	0.89875	-2.58;-2.58	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000001	D	0.96084	0.8724	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96565	0.9418	10	0.87932	D	0	0.0627	17.8364	0.88699	0.0:0.0:1.0:0.0	.	11;11	Q9H6K4;Q9H6K4-2	OPA3_HUMAN;.	M	11	ENSP00000319817:L11M;ENSP00000263275:L11M	ENSP00000263275:L11M	L	-	1	2	OPA3	50779832	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.704000	0.68347	2.884000	0.98904	0.655000	0.94253	CTG	OPA3-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459601.1		-	ENST00000263275.4	Missense_Mutation	SNP	19 : 46087992 - 46087992 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	444	87
ARHGEF18	23370	broad.mit.edu	37	19	7506797	7506797	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7506797G>T	ENST00000359920.6	+	3	908		c.e3-1		CTD-2207O23.3_ENST00000593531.1_Splice_Site|ARHGEF18_ENST00000319670.9_Splice_Site	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	NA					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				TCTTCCCTCAGATCCCTACAC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	128	126			NA	NA	19		NA											NA				7506797		2203	4300	6503	SO:0001630	splice_region_variant			AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880	23370	23370		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	17090	protein-coding gene	gene with protein product	Rho-specific guanine nucleotide exchange factor p114		rho/rac guanine nucleotide exchange factor (GEF) 18		NA	9628581, 11318610	Standard	NM_015318	NM_015318	NA	Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.656-1G>T	19.37:g.7506797G>T		NA	A8MV62|B5ME81|O60274|Q6DD92	37	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872133	0.33069	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9733	0.71251	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGEF18	7412797	1.000000	0.71417	0.971000	0.41717	0.085000	0.17905	8.881000	0.92415	2.612000	0.88384	0.505000	0.49811	.	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000436340.1	Intron	+	ENST00000359920.6	Splice_Site	SNP	19 : 7506797 - 7506797 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1403	67
OBSCN	84033	broad.mit.edu	37	1	228459737	228459737	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228459737C>T	ENST00000570156.2	+	20	5875	c.5801C>T	c.(5800-5802)gCc>gTc	p.A1934V	RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_Missense_Mutation_p.A406V|OBSCN_ENST00000366707.4_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	915	Ig-like 19.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGCGAGGTGGCCCAAGCCCAG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	71	73			NA	NA	1		NA											NA				228459737		876	1991	2867	SO:0001583	missense			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358	84033	84033		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	15719	protein-coding gene	gene with protein product		608616			NA	11448995, 11814696	Standard	NM_052843	NM_001098623	NA	Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000570156.2:c.5801C>T	1.37:g.228459737C>T	ENSP00000455507:p.Ala1934Val	NA	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	37	CCDS59204.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.986101	0.74589	.	.	ENSG00000154358	ENST00000359599	T	0.67698	-0.28	4.95	4.95	0.65309	.	.	.	.	.	T	0.77624	0.4158	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.80103	-0.1522	6	0.62326	D	0.03	.	15.3414	0.74300	0.0:0.8602:0.1398:0.0	.	.	.	.	V	406	ENSP00000352613:A406V	ENSP00000352613:A406V	A	+	2	0	OBSCN	226526360	0.029000	0.19370	1.000000	0.80357	0.498000	0.33706	0.752000	0.26362	2.309000	0.77851	0.511000	0.50034	GCC	OBSCN-011	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421354.3		+	ENST00000570156.2	Missense_Mutation	SNP	1 : 228459737 - 228459737 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	343	54
C1orf127	148345	broad.mit.edu	37	1	11008344	11008344	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11008344C>T	ENST00000377004.4	-	12	1847	c.1848G>A	c.(1846-1848)acG>acA	p.T616T	C1orf127_ENST00000377008.4_Silent_p.T449T	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	467										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		TTCCAGAGCACGTTTCCTGGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	68	65			NA	NA	1		NA											NA				11008344		2203	4300	6503	SO:0001819	synonymous_variant			AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262	148345	148345			26730	protein-coding gene	gene with protein product					NA	14702039	Standard	NM_173507	NM_001170754	NA	Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377004.4:c.1848G>A	1.37:g.11008344C>T		NA		37	CCDS53267.1	.	.	.	.	.	.	.	.	.	.	C	3.491	-0.103869	0.06967	.	.	ENSG00000175262	ENST00000418570;ENST00000520253	.	.	.	3.9	-6.74	0.01743	.	.	.	.	.	T	0.27798	0.0684	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33471	-0.9867	4	.	.	.	-1.6694	8.9166	0.35585	0.0:0.5712:0.1442:0.2846	.	.	.	.	H	451;568	.	.	R	-	2	0	C1orf127	10930931	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.274000	0.02820	-1.442000	0.01955	-1.855000	0.00564	CGT	C1orf127-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding			-	ENST00000377004.4	Silent	SNP	1 : 11008344 - 11008344 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	554	48
SMEK1	55671	broad.mit.edu	37	14	91937229	91937229	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91937229G>A	ENST00000554684.1	-	10	2069	c.1573C>T	c.(1573-1575)Cgg>Tgg	p.R525W	SMEK1_ENST00000428424.2_Missense_Mutation_p.R299W|SMEK1_ENST00000554943.1_Missense_Mutation_p.R538W|SMEK1_ENST00000555462.1_Missense_Mutation_p.R299W|SMEK1_ENST00000337238.4_Missense_Mutation_p.R525W	NM_001284280.1	NP_001271209.1	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	538						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		AGCACTCTCCGGAGGATATCC	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	119	119			NA	NA	14		NA											NA				91937229		2203	4300	6503	SO:0001583	missense			AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796	55671	55671			20219	protein-coding gene	gene with protein product		610351	KIAA2010	KIAA2010	NA	16085932, 18487071	Standard	NM_032560	XM_005267842	NA	Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554684.1:c.1573C>T	14.37:g.91937229G>A	ENSP00000450864:p.Arg525Trp	NA	Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	37	CCDS9895.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582799	0.86748	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390	T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55	5.48	5.48	0.80851	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74749	0.3757	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.988;0.982;0.994	T	0.77408	-0.2599	10	0.72032	D	0.01	-7.1543	19.3334	0.94303	0.0:0.0:1.0:0.0	.	299;538;525	Q6IN85-4;Q6IN85;Q6IN85-2	.;P4R3A_HUMAN;.	W	525;525;299;538;299;525	ENSP00000450864:R525W;ENSP00000337125:R525W;ENSP00000392704:R299W;ENSP00000450883:R538W;ENSP00000450891:R299W;ENSP00000452596:R525W	ENSP00000337125:R525W	R	-	1	2	SMEK1	91006982	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.290000	0.65661	2.567000	0.86603	0.557000	0.71058	CGG	SMEK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411664.1		-	ENST00000554684.1	Missense_Mutation	SNP	14 : 91937229 - 91937229 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	446	77
STXBP5L	9515	broad.mit.edu	37	3	121137938	121137938	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121137938A>C	ENST00000273666.6	+	28	3826	c.3555A>C	c.(3553-3555)caA>caC	p.Q1185H	STXBP5L_ENST00000471454.1_Missense_Mutation_p.Q1161H	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1185					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AATGGTACCAATTCTGACTTC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	128	130			NA	NA	3		NA											NA				121137938		1827	4087	5914	SO:0001583	missense			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087	9515	9515		WD repeat domain containing	30757	protein-coding gene	gene with protein product		609381			NA	10231032, 14767561	Standard		NM_014980	NA	Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.3555A>C	3.37:g.121137938A>C	ENSP00000273666:p.Gln1185His	NA	Q4G1B4|Q6PIC3	37	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	A	17.66	3.443462	0.63067	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000471262	T;T;T	0.30714	1.52;1.53;1.57	5.84	2.25	0.28309	.	0.054083	0.85682	D	0.000000	T	0.51975	0.1706	M	0.82323	2.585	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.75484	0.986;0.986	T	0.50915	-0.8771	10	0.87932	D	0	-9.0245	6.5322	0.22334	0.4146:0.0:0.5854:0.0	.	1161;1185	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	H	1185;1161;1128	ENSP00000273666:Q1185H;ENSP00000420019:Q1161H;ENSP00000420167:Q1128H	ENSP00000273666:Q1185H	Q	+	3	2	STXBP5L	122620628	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.832000	0.48152	0.498000	0.27948	0.459000	0.35465	CAA	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355256.3		+	ENST00000273666.6	Missense_Mutation	SNP	3 : 121137938 - 121137938 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	449	85
COL25A1	84570	broad.mit.edu	37	4	109773399	109773399	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:109773399C>T	ENST00000399132.1	-	26	1912	c.1382G>A	c.(1381-1383)gGg>gAg	p.G461E	COL25A1_ENST00000399126.1_Missense_Mutation_p.G461E|COL25A1_ENST00000399127.1_Missense_Mutation_p.G434E	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	461	Collagen-like 6.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		AACCTTTGGCCCTTGTAGTCC	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	82	82			NA	NA	4		NA											NA				109773399		1827	4087	5914	SO:0001583	missense			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517	84570	84570		Collagens	18603	protein-coding gene	gene with protein product		610004			NA	11927537	Standard	NM_032518	NM_001256074	NA	Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1382G>A	4.37:g.109773399C>T	ENSP00000382083:p.Gly461Glu	NA	A8MPZ6|Q9BXR9	37	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.406093	0.62288	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;D;D	0.99353	-5.77;-5.77;-5.77	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.99687	0.9882	H	0.97240	3.965	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97499	1.0059	9	.	.	.	-5.6076	19.3463	0.94363	0.0:1.0:0.0:0.0	.	461;461	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	E	461;463;442;434;461;391	ENSP00000382083:G461E;ENSP00000382078:G434E;ENSP00000382077:G461E	.	G	-	2	0	COL25A1	109992848	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.922000	0.70036	2.659000	0.90383	0.650000	0.86243	GGG	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000315938.2		-	ENST00000399132.1	Missense_Mutation	SNP	4 : 109773399 - 109773399 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	302	49
BCAR1	9564	broad.mit.edu	37	16	75269582	75269582	+	Silent	SNP	G	G	A	rs61729594	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75269582G>A	ENST00000418647.3	-	6	1636	c.1353C>T	c.(1351-1353)gtC>gtT	p.V451V	BCAR1_ENST00000535626.2_Silent_p.V257V|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Silent_p.V423V|BCAR1_ENST00000393420.6_Silent_p.V423V|BCAR1_ENST00000542031.2_Silent_p.V403V|BCAR1_ENST00000162330.5_Silent_p.V405V|BCAR1_ENST00000538440.2_Silent_p.V405V|BCAR1_ENST00000546196.1_Silent_p.V376V|BCAR1_ENST00000393422.2_Silent_p.V423V	NM_001170714.1	NP_001164185.1	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	405	Ser-rich.				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		CACCACTGTCGACCACGCCAC	0.697		NA											G	11	0.01	0.02	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.005	1	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0								G	,,,,,,,,	96,4300	74.7+/-112.8	2,92,2104	30	37	35		1353,1269,1269,1269,1215,1209,771,585,1215	-8.1	0	16	dbSNP_129	35	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BCAR1	NM_001170714.1,NM_001170715.1,NM_001170716.1,NM_001170717.1,NM_001170718.1,NM_001170719.1,NM_001170720.1,NM_001170721.1,NM_014567.3	,,,,,,,,	2,93,6402	AA,AG,GG	NA	0.0116,2.1838,0.7465	,,,,,,,,	451/917,423/889,423/889,423/889,405/871,403/869,257/723,195/661,405/871	75269582	97,12897	2198	4299	6497	SO:0001819	synonymous_variant			AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820	9564	9564		Cas scaffolding proteins	971	protein-coding gene	gene with protein product	Crk-associated substrate, Cas scaffolding protein family member 1	602941			NA	8413311, 10639512	Standard	NM_014567	NM_001170714	NA	Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000418647.3:c.1353C>T	16.37:g.75269582G>A		NA		37	CCDS54040.1																																																																																			BCAR1-005	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434666.1		-	ENST00000418647.3	Silent	SNP	16 : 75269582 - 75269582 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	240	66
GIGYF1	64599	broad.mit.edu	37	7	100284433	100284433	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100284433C>T	ENST00000275732.5	-	7	1742	c.533G>A	c.(532-534)gGc>gAc	p.G178D	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	178										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTCCTCAAAGCCACATCGTGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	41	41			NA	NA	7		NA											NA				100284433		2203	4300	6503	SO:0001583	missense			AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830	64599	64599			9126	protein-coding gene	gene with protein product	GYF domain containing 1	612064	PERQ amino acid rich, with GYF domain 1	PERQ1	NA	9799793, 12771153	Standard	NM_022574	NM_022574	NA	Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.533G>A	7.37:g.100284433C>T	ENSP00000275732:p.Gly178Asp	NA	Q6Y7W7|Q8WZ38	37	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	18.20	3.570442	0.65765	.	.	ENSG00000146830	ENST00000275732	D	0.84070	-1.8	4.96	4.06	0.47325	.	0.063561	0.64402	D	0.000008	D	0.84991	0.5595	M	0.65498	2.005	0.58432	D	0.999991	D	0.65815	0.995	P	0.53649	0.731	T	0.82372	-0.0490	10	0.19147	T	0.46	-22.4749	13.0391	0.58889	0.0:0.8368:0.1632:0.0	.	178	O75420	PERQ1_HUMAN	D	178	ENSP00000275732:G178D	ENSP00000275732:G178D	G	-	2	0	GIGYF1	100122369	0.148000	0.22702	0.996000	0.52242	0.870000	0.49936	1.120000	0.31271	1.288000	0.44600	0.563000	0.77884	GGC	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347205.2		-	ENST00000275732.5	Missense_Mutation	SNP	7 : 100284433 - 100284433 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	62
ABCA13	154664	broad.mit.edu	37	7	48556458	48556458	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48556458C>T	ENST00000435803.1	+	52	13802	c.13778C>T	c.(13777-13779)gCc>gTc	p.A4593V	ABCA13_ENST00000544596.1_Missense_Mutation_p.A323V	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4593					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CGGTTGCTAGCCATCATCTCC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	163	164			NA	NA	7		NA											NA				48556458		1952	4155	6107	SO:0001583	missense			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869	154664	154664		ATP binding cassette transporters / subfamily A	14638	protein-coding gene	gene with protein product		607807			NA	12697998	Standard	NM_152701	NM_152701	NA	Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.13778C>T	7.37:g.48556458C>T	ENSP00000411096:p.Ala4593Val	NA	Q6ZTT7|Q86WI2|Q8N248	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848013	0.71603	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.87334	-2.08;-2.24;-2.2	5.35	4.47	0.54385	.	0.000000	0.49305	D	0.000152	D	0.91778	0.7399	M	0.70595	2.14	0.41246	D	0.986678	D;D;D	0.89917	0.992;0.999;1.0	D;D;D	0.91635	0.939;0.982;0.999	D	0.91041	0.4871	10	0.42905	T	0.14	.	11.201	0.48741	0.0:0.9155:0.0:0.0845	.	323;2295;4593	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	V	4593;366;323	ENSP00000411096:A4593V;ENSP00000391042:A366V;ENSP00000442634:A323V	ENSP00000391042:A366V	A	+	2	0	ABCA13	48527004	0.909000	0.30893	0.973000	0.42090	0.979000	0.70002	1.548000	0.36201	1.233000	0.43693	0.655000	0.94253	GCC	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341964.2		+	ENST00000435803.1	Missense_Mutation	SNP	7 : 48556458 - 48556458 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	593	113
TIAL1	7073	broad.mit.edu	37	10	121342012	121342012	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121342012C>T	ENST00000369093.2	-	3	267	c.238G>A	c.(238-240)Gct>Act	p.A80T	TIAL1_ENST00000369092.4_5'UTR|TIAL1_ENST00000436547.2_Missense_Mutation_p.A63T	NM_001033925.1	NP_001029097.1	Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	63	RRM 1.				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		GCTAATGCAGCAGCTGCATCT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	126	123			NA	NA	10		NA											NA				121342012		2203	4300	6503	SO:0001583	missense			AL833106	CCDS7613.1, CCDS31295.1	10q	2013-02-12	2001-11-28		ENSG00000151923	ENSG00000151923	7073	7073		RNA binding motif (RRM) containing	11804	protein-coding gene	gene with protein product		603413	TIA1 cytotoxic granule-associated RNA-binding protein-like 1		NA	1326761	Standard	NM_022333, NM_003252	XM_005270108	NA	Approved	TIAR	uc001lej.1	Q01085	OTTHUMG00000019156	ENST00000369093.2:c.238G>A	10.37:g.121342012C>T	ENSP00000358089:p.Ala80Thr	NA	A8K3T0	37	CCDS31295.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405115	0.62288	.	.	ENSG00000151923	ENST00000369093;ENST00000436547;ENST00000412524;ENST00000369086	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.91	5.91	0.95273	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.049698	0.85682	D	0.000000	T	0.25680	0.0625	N	0.25825	0.765	0.80722	D	1	B;P	0.49559	0.009;0.925	B;P	0.59012	0.025;0.85	T	0.01476	-1.1345	10	0.09338	T	0.73	-16.3566	20.3018	0.98617	0.0:1.0:0.0:0.0	.	80;63	A8K4L9;Q01085	.;TIAR_HUMAN	T	80;63;24;24	ENSP00000358089:A80T;ENSP00000394902:A63T;ENSP00000403573:A24T;ENSP00000358082:A24T	ENSP00000358082:A24T	A	-	1	0	TIAL1	121332002	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.894000	0.69806	2.799000	0.96334	0.650000	0.86243	GCT	TIAL1-005	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050668.1		-	ENST00000369093.2	Missense_Mutation	SNP	10 : 121342012 - 121342012 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	700	128
AEBP1	165	broad.mit.edu	37	7	44153432	44153432	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44153432C>T	ENST00000223357.3	+	21	3354	c.3049C>T	c.(3049-3051)Cgc>Tgc	p.R1017C	AEBP1_ENST00000450684.2_Missense_Mutation_p.R592C	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1017	Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CCAACAGCGACGCCTGCAGCA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	87	85			NA	NA	7		NA											NA				44153432		2203	4300	6503	SO:0001583	missense			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624	165	165			303	protein-coding gene	gene with protein product	aortic carboxypeptidase-like protein, adipocyte enhancer binding protein 1	602981	AE-binding protein 1		NA	8920928	Standard	NM_001129	NM_001129	NA	Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3049C>T	7.37:g.44153432C>T	ENSP00000223357:p.Arg1017Cys	NA	Q14113|Q59ER7|Q6ZSC7|Q7KZ79	37	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499192	0.64298	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	D;D	0.95307	-3.67;-3.09	5.33	3.25	0.37280	.	0.782162	0.12025	N	0.506551	D	0.89164	0.6637	N	0.19112	0.55	0.21984	N	0.999438	D;D	0.58268	0.982;0.97	P;B	0.44732	0.459;0.27	T	0.81852	-0.0742	10	0.62326	D	0.03	-12.0385	7.3391	0.26627	0.2928:0.6046:0.0:0.1025	.	592;1017	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	C	1017;592	ENSP00000223357:R1017C;ENSP00000398878:R592C	ENSP00000223357:R1017C	R	+	1	0	AEBP1	44119957	0.000000	0.05858	0.510000	0.27712	0.846000	0.48090	0.986000	0.29590	1.241000	0.43820	0.557000	0.71058	CGC	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250993.2		+	ENST00000223357.3	Missense_Mutation	SNP	7 : 44153432 - 44153432 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	696	129
OGFOD2	79676	broad.mit.edu	37	12	123463481	123463481	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123463481A>C	ENST00000538755.1	+	7	1193	c.221A>C	c.(220-222)aAt>aCt	p.N74T	OGFOD2_ENST00000397389.2_Missense_Mutation_p.N178T|OGFOD2_ENST00000454694.2_Missense_Mutation_p.N74T|OGFOD2_ENST00000536150.1_Missense_Mutation_p.N74T|OGFOD2_ENST00000545317.1_Missense_Mutation_p.N74T|OGFOD2_ENST00000228922.7_Missense_Mutation_p.N238T|RP11-197N18.2_ENST00000540866.2_RNA|ABCB9_ENST00000542678.1_5'UTR|OGFOD2_ENST00000538628.1_Missense_Mutation_p.N74T|OGFOD2_ENST00000542117.1_3'UTR|OGFOD2_ENST00000545612.1_Missense_Mutation_p.N74T			Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2	238							iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	CACTATGATAATGCCGAGCTC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	32	30			NA	NA	12		NA											NA				123463481		2034	4167	6201	SO:0001583	missense			AK094820	CCDS41855.1	12q24.31	2010-11-23			ENSG00000111325	ENSG00000111325	79676	79676			25823	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024623	NM_024623	NA	Approved	FLJ13491, FLJ37501	uc001udz.1	Q6N063		ENST00000538755.1:c.221A>C	12.37:g.123463481A>C	ENSP00000442817:p.Asn74Thr	NA	B3KT24|Q4KN13|Q6N023|Q9H8K6	37		.	.	.	.	.	.	.	.	.	.	A	22.4	4.284205	0.80803	.	.	ENSG00000111325	ENST00000397389;ENST00000538755;ENST00000536150;ENST00000545056;ENST00000545612;ENST00000538628;ENST00000545317;ENST00000454694;ENST00000228922;ENST00000536439	D;T	0.86366	-2.11;1.02	5.42	5.42	0.78866	Oxoglutarate/iron-dependent oxygenase (1);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.93125	0.7811	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.93291	0.6668	10	0.49607	T	0.09	-23.1009	15.4665	0.75406	1.0:0.0:0.0:0.0	.	238;178	Q6N063;Q6N063-2	OGFD2_HUMAN;.	T	178;74;74;74;74;74;74;74;238;74	ENSP00000380544:N178T;ENSP00000228922:N238T	ENSP00000228922:N238T	N	+	2	0	OGFOD2	122029434	1.000000	0.71417	0.194000	0.23346	0.775000	0.43874	9.339000	0.96797	2.054000	0.61138	0.459000	0.35465	AAT	OGFOD2-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000400972.1		+	ENST00000538755.1	Missense_Mutation	SNP	12 : 123463481 - 123463481 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	269	57
ETV3L	440695	broad.mit.edu	37	1	157069139	157069139	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157069139G>A	ENST00000454449.2	-	2	374	c.90C>T	c.(88-90)gcC>gcT	p.A30A		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	30						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GGGACGACTCGGCTTTGTAGG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	49	48			NA	NA	1		NA											NA				157069139		2203	4300	6503	SO:0001819	synonymous_variant			AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831	440695	440695			33834	protein-coding gene	gene with protein product			ets variant gene 3-like		NA		Standard	NM_001004341	NM_001004341	NA	Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.90C>T	1.37:g.157069139G>A		NA		37	CCDS30893.1																																																																																			ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000099024.2		-	ENST00000454449.2	Silent	SNP	1 : 157069139 - 157069139 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	339	125
DNAJC28	54943	broad.mit.edu	37	21	34861515	34861515	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34861515G>T	ENST00000314399.3	-	2	624	c.186C>A	c.(184-186)tgC>tgA	p.C62*	DNAJC28_ENST00000381947.3_Nonsense_Mutation_p.C62*|DNAJC28_ENST00000402202.1_Nonsense_Mutation_p.C62*	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	62	J.						heat shock protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						CATCTGCAGAGCATCCTTCCT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													192	181	185			NA	NA	21		NA											NA				34861515		2203	4300	6503	SO:0001587	stop_gained			AK000468	CCDS13626.1	21q22.11	2011-09-02	2008-06-17	2008-06-17	ENSG00000177692	ENSG00000177692	54943	54943		Heat shock proteins / DNAJ (HSP40)	1297	protein-coding gene	gene with protein product	Orf28		chromosome 21 open reading frame 55	C21orf55	NA		Standard		NM_017833	NA	Approved	C21orf78	uc002yrw.3	Q9NX36	OTTHUMG00000065531	ENST00000314399.3:c.186C>A	21.37:g.34861515G>T	ENSP00000320303:p.Cys62*	NA	D3DSF2	37	CCDS13626.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287351	0.80803	.	.	ENSG00000177692	ENST00000381947;ENST00000314399;ENST00000402202	.	.	.	5.39	-1.03	0.10102	.	0.140012	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3122	10.0629	0.42286	0.614:0.0:0.386:0.0	.	.	.	.	X	62	.	ENSP00000320303:C62X	C	-	3	2	DNAJC28	33783385	0.960000	0.32886	0.972000	0.41901	0.377000	0.30045	0.143000	0.16115	-0.079000	0.12707	-0.251000	0.11542	TGC	DNAJC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000140454.3		-	ENST00000314399.3	Nonsense_Mutation	SNP	21 : 34861515 - 34861515 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	799	71
C9orf152	401546	broad.mit.edu	37	9	112963456	112963456	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112963456C>T	ENST00000400613.4	-	2	1101	c.492G>A	c.(490-492)caG>caA	p.Q164Q	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	164										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GCTGAGTCATCTGATTGGTTT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													204	187	193			NA	NA	9		NA											NA				112963456		2203	4300	6503	SO:0001819	synonymous_variant			BX648620	CCDS35102.2	9q31.3	2012-04-03			ENSG00000188959	ENSG00000188959	401546	401546			31455	protein-coding gene	gene with protein product					NA		Standard	NM_001012993	NM_001012993	NA	Approved	bA470J20.2	uc011lwk.2	Q5JTZ5	OTTHUMG00000020478	ENST00000400613.4:c.492G>A	9.37:g.112963456C>T		NA	A8MWT6	37	CCDS35102.2																																																																																			C9orf152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053602.2		-	ENST00000400613.4	Silent	SNP	9 : 112963456 - 112963456 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	995	150
KIAA1109	84162	broad.mit.edu	37	4	123258035	123258035	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123258035G>A	ENST00000264501.4	+	71	12383		c.e71-1		KIAA1109_ENST00000388738.3_Splice_Site			Q2LD37	K1109_HUMAN	KIAA1109	NA					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATTTTAAACAGCTGTCAGCTC	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	103	108			NA	NA	4		NA											NA				123258035		1828	4081	5909	SO:0001630	splice_region_variant			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688	84162	84162			26953	protein-coding gene	gene with protein product	fragile site-associated	611565			NA	16386706	Standard	NM_020797	NM_015312	NA	Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.12011-1G>A	4.37:g.123258035G>A		NA	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	37	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741598	0.69304	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707;ENST00000306802	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4524	0.61178	0.0754:0.0:0.9246:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1109	123477485	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.411000	0.80078	2.530000	0.85305	0.467000	0.42956	.	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316415.1	Intron	+	ENST00000264501.4	Splice_Site	SNP	4 : 123258035 - 123258035 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	58
TRAFD1	10906	broad.mit.edu	37	12	112579955	112579955	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112579955G>T	ENST00000257604.5	+	6	1323	c.706G>T	c.(706-708)Gag>Tag	p.E236*	TRAFD1_ENST00000412615.2_Nonsense_Mutation_p.E236*	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	236					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						GGGTGGTGAAGAGAGTGCAAA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	103	101			NA	NA	12		NA											NA				112579955		2203	4300	6503	SO:0001587	stop_gained			AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148	10906	10906			24808	protein-coding gene	gene with protein product		613197			NA	12477932	Standard	NM_006700	NM_006700	NA	Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.706G>T	12.37:g.112579955G>T	ENSP00000257604:p.Glu236*	NA	A8K5L6	37	CCDS9160.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.927562	0.73327	.	.	ENSG00000135148	ENST00000412615;ENST00000257604;ENST00000552896;ENST00000548277	.	.	.	5.4	4.5	0.54988	.	0.524979	0.20233	N	0.096455	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-13.2931	7.5553	0.27820	0.0927:0.2192:0.6881:0.0	.	.	.	.	X	236;236;236;30	.	ENSP00000257604:E236X	E	+	1	0	TRAFD1	111064338	1.000000	0.71417	0.990000	0.47175	0.957000	0.61999	2.653000	0.46691	1.261000	0.44149	0.467000	0.42956	GAG	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405214.1		+	ENST00000257604.5	Nonsense_Mutation	SNP	12 : 112579955 - 112579955 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	401	92
SSMEM1	136263	broad.mit.edu	37	7	129856189	129856189	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:129856189G>T	ENST00000297819.3	+	3	665	c.614G>T	c.(613-615)aGa>aTa	p.R205I		NM_145268.3	NP_660311.1			serine-rich single-pass membrane protein 1	NA											NA						AAAGCCTTGAGAACCAACGAA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	139	139			NA	NA	7		NA											NA				129856189		2203	4300	6503	SO:0001583	missense			AK097635	CCDS5816.1	7q32.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000165120	ENSG00000165120	136263	136263			29580	protein-coding gene	gene with protein product			chromosome 7 open reading frame 45	C7orf45	NA	12477932	Standard	NM_145268	NM_145268	NA	Approved	FLJ40316	uc003vpp.3	Q8WWF3	OTTHUMG00000157844	ENST00000297819.3:c.614G>T	7.37:g.129856189G>T	ENSP00000297819:p.Arg205Ile	NA		37	CCDS5816.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.838696	0.51057	.	.	ENSG00000165120	ENST00000297819	T	0.59772	0.24	5.26	4.38	0.52667	.	0.081025	0.52532	N	0.000066	T	0.56187	0.1968	M	0.69823	2.125	0.45502	D	0.998464	P	0.40731	0.728	B	0.37451	0.25	T	0.63368	-0.6653	10	0.87932	D	0	-22.0352	12.6902	0.56970	0.0:0.0:0.8349:0.1651	.	205	Q8WWF3	CG045_HUMAN	I	205	ENSP00000297819:R205I	ENSP00000297819:R205I	R	+	2	0	C7orf45	129643425	1.000000	0.71417	1.000000	0.80357	0.274000	0.26718	3.376000	0.52417	1.338000	0.45544	0.491000	0.48974	AGA	SSMEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349768.1		+	ENST00000297819.3	Missense_Mutation	SNP	7 : 129856189 - 129856189 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	880	141
RAB11FIP1	80223	broad.mit.edu	37	8	37732467	37732467	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37732467C>T	ENST00000330843.4	-	3	1200	c.1188G>A	c.(1186-1188)ccG>ccA	p.P396P	RAB11FIP1_ENST00000524118.1_Silent_p.P248P|RAB11FIP1_ENST00000522727.1_Silent_p.P248P|RAB11FIP1_ENST00000287263.4_Silent_p.P396P	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	396					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GTCGGTAGGACGGCAGGGTCA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	54	55			NA	NA	8		NA											NA				37732467		2203	4300	6503	SO:0001819	synonymous_variant			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675	80223	80223			30265	protein-coding gene	gene with protein product		608737			NA	11786538, 11495908	Standard	NM_025151	NM_001002814	NA	Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1188G>A	8.37:g.37732467C>T		NA	Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	37	CCDS34882.1																																																																																			RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376816.1		-	ENST00000330843.4	Silent	SNP	8 : 37732467 - 37732467 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	480	97
SPATS2	65244	broad.mit.edu	37	12	49883338	49883338	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49883338G>T	ENST00000553127.1	+	6	709	c.196G>T	c.(196-198)Gta>Tta	p.V66L	SPATS2_ENST00000552918.1_Missense_Mutation_p.V66L|SPATS2_ENST00000321898.6_Missense_Mutation_p.V66L			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	66						cytoplasm				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						GGACAAAACAGTACAAGCATT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	102	107			NA	NA	12		NA											NA				49883338		2203	4300	6503	SO:0001583	missense			AK023179	CCDS31794.1	12q13.12	2009-06-12					65244	65244			18650	protein-coding gene	gene with protein product		611667			NA	11944913, 17989879	Standard	NM_023071	NM_023071	NA	Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.196G>T	12.37:g.49883338G>T	ENSP00000448228:p.Val66Leu	NA	A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	37	CCDS31794.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094313	0.76870	.	.	ENSG00000123352	ENST00000550997;ENST00000549538;ENST00000548710;ENST00000553127;ENST00000321898;ENST00000551540;ENST00000552918;ENST00000395063	.	.	.	5.33	5.33	0.75918	UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.52773	0.1755	L	0.53249	1.67	0.80722	D	1	P	0.34800	0.469	B	0.28385	0.089	T	0.58891	-0.7556	9	0.72032	D	0.01	-4.6616	16.5539	0.84479	0.0:0.0:1.0:0.0	.	66	Q86XZ4	SPAS2_HUMAN	L	66	.	ENSP00000326841:V66L	V	+	1	0	SPATS2	48169605	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.932000	0.92897	2.770000	0.95276	0.557000	0.71058	GTA	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404023.1		+	ENST00000553127.1	Missense_Mutation	SNP	12 : 49883338 - 49883338 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	277	44
PALMD	54873	broad.mit.edu	37	1	100155441	100155441	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100155441A>G	ENST00000605497.1	+	7	1750	c.1625A>G	c.(1624-1626)gAc>gGc	p.D542G	PALMD_ENST00000263174.4_Intron			Q9NP74	PALMD_HUMAN	palmdelphin	0					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		AATAAAAATGACAAGGCATGC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	41	41			NA	NA	1		NA											NA				100155441		2178	4248	6426	SO:0001583	missense			AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260	54873	54873			15846	protein-coding gene	gene with protein product		610182		C1orf11	NA	11478809	Standard	NM_017734	NM_017734	NA	Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000605497.1:c.1625A>G	1.37:g.100155441A>G	ENSP00000473839:p.Asp542Gly	NA	Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	37																																																																																				PALMD-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000468886.1		+	ENST00000605497.1	Missense_Mutation	SNP	1 : 100155441 - 100155441 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	262	25
PAPPA	5069	broad.mit.edu	37	9	119158838	119158838	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119158838G>A	ENST00000328252.3	+	22	5196	c.4827G>A	c.(4825-4827)cgG>cgA	p.R1609R	PAPPA_ENST00000483254.1_3'UTR|PAPPA_ENST00000534838.1_Silent_p.R647R	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1609					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTGCTTGTCGGGACCCCCAGG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	158	163			NA	NA	9		NA											NA				119158838		2203	4300	6503	SO:0001819	synonymous_variant				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752	5069	5069			8602	protein-coding gene	gene with protein product	insulin-like growth factor-dependent IGF binding protein-4 protease, aspecific BCL2 ARE-binding protein 2, differentially placenta 1 expressed protein	176385			NA	7679961	Standard	NM_002581	NM_002581	NA	Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.4827G>A	9.37:g.119158838G>A		NA	B1AMF9|Q08371|Q68G52|Q9UDK7	37	CCDS6813.1																																																																																			PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055546.1		+	ENST00000328252.3	Silent	SNP	9 : 119158838 - 119158838 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	873	130
GLI2	2736	broad.mit.edu	37	2	121742107	121742107	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:121742107C>T	ENST00000452319.1	+	12	1804	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	GLI2_ENST00000361492.4_Missense_Mutation_p.R582W|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Missense_Mutation_p.R254W			P10070	GLI2_HUMAN	GLI family zinc finger 2	582					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CAGCTCTCTCCGGAAGCATGT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	168	169			NA	NA	2		NA											NA				121742107		2203	4300	6503	SO:0001583	missense				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047	2736	2736		Zinc fingers, C2H2-type	4318	protein-coding gene	gene with protein product	tax-responsive element-2 holding protein, tax helper protein 1, tax helper protein 2	165230	GLI-Kruppel family member GLI2, glioma-associated oncogene family zinc finger 2		NA	2850480, 9557682	Standard	NM_005270	NM_005270	NA	Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1744C>T	2.37:g.121742107C>T	ENSP00000390436:p.Arg582Trp	NA	O60252|O60253|O60254|O60255|Q15590|Q15591|Q4JHT4	37	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169755	0.78452	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.53640	0.61;0.61;0.61	4.48	3.52	0.40303	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.60130	0.2245	L	0.52905	1.665	0.58432	D	0.999996	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.998	T	0.62450	-0.6852	10	0.87932	D	0	.	9.9524	0.41647	0.4156:0.5844:0.0:0.0	.	582;565;237;237;254	P10070;Q0VGA0;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.;.	W	582;582;254	ENSP00000390436:R582W;ENSP00000354586:R582W;ENSP00000312694:R254W	ENSP00000312694:R254W	R	+	1	2	GLI2	121458577	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.261000	0.58841	2.309000	0.77851	0.561000	0.74099	CGG	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000332293.3		+	ENST00000452319.1	Missense_Mutation	SNP	2 : 121742107 - 121742107 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1186	128
SOGA2	0	broad.mit.edu	37	18	8813213	8813213	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8813213C>T	ENST00000517570.1	+	10	2900	c.2718C>T	c.(2716-2718)ttC>ttT	p.F906F	SOGA2_ENST00000306329.11_Silent_p.F1266F|SOGA2_ENST00000518815.1_Silent_p.F300F|SOGA2_ENST00000400050.3_Silent_p.F906F|SOGA2_ENST00000306285.7_Silent_p.F300F|SOGA2_ENST00000359865.3_Silent_p.F947F			Q9Y4B5	CC165_HUMAN		1257											NA						AGAAGGAATTCTTGTGGAGGA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	24	24			NA	NA	18		NA											NA				8813213		2201	4300	6501	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000517570.1:c.2718C>T	18.37:g.8813213C>T		NA	E9PAY7|Q6ZMQ9|Q8IWA9	37		.	.	.	.	.	.	.	.	.	.	C	6.149	0.395697	0.11638	.	.	ENSG00000168502	ENST00000519823	.	.	.	4.96	-3.48	0.04739	.	.	.	.	.	T	0.57562	0.2062	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.58014	-0.7711	4	.	.	.	-10.4086	12.5213	0.56060	0.0:0.2886:0.5687:0.1427	.	.	.	.	F	81	.	.	L	+	1	0	CCDC165	8803213	0.967000	0.33354	0.000000	0.03702	0.808000	0.45660	0.079000	0.14782	-0.507000	0.06549	0.462000	0.41574	CTT	SOGA2-003	KNOWN	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000379400.2		+	ENST00000517570.1	Silent	SNP	18 : 8813213 - 8813213 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	107	16
ALG3	10195	broad.mit.edu	37	3	183962463	183962463	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183962463A>G	ENST00000455059.1	-	5	986	c.532T>C	c.(532-534)Tta>Cta	p.L178L	ALG3_ENST00000397676.3_Silent_p.L218L|ALG3_ENST00000445626.2_Silent_p.L170L|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000418734.2_Silent_p.L162L			Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	218					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGAAACAGTAACCCAGGGGCG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	58	57			NA	NA	3		NA											NA				183962463		2060	4196	6256	SO:0001819	synonymous_variant			BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	10195	10195	2.4.1.258	Dolichyl D-mannosyl phosphate dependent mannosyltransferases	23056	protein-coding gene	gene with protein product	carbohydrate deficient glycoprotein syndrome type IV, dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase, dol-P-Man dependent alpha-1,3- mannosyltransferase	608750	asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase), asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)		NA	1058125	Standard	NM_005787	NM_005787	NA	Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000455059.1:c.532T>C	3.37:g.183962463A>G		NA	Q9BT71	37		.	.	.	.	.	.	.	.	.	.	A	8.527	0.870045	0.17322	.	.	ENSG00000214160	ENST00000446569	.	.	.	5.26	0.239	0.15484	.	.	.	.	.	T	0.54983	0.1892	.	.	.	0.58432	D	0.999992	.	.	.	.	.	.	T	0.46638	-0.9177	4	.	.	.	-4.4585	8.2378	0.31636	0.5004:0.0:0.4996:0.0	.	.	.	.	A	121	.	.	V	-	2	0	ALG3	185445157	0.970000	0.33590	0.011000	0.14972	0.995000	0.86356	2.013000	0.40942	0.045000	0.15804	0.379000	0.24179	GTT	ALG3-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000346035.1		-	ENST00000455059.1	Silent	SNP	3 : 183962463 - 183962463 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	88	18
MYH4	4622	broad.mit.edu	37	17	10360803	10360803	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10360803G>A	ENST00000255381.2	-	16	1941	c.1831C>T	c.(1831-1833)Ctg>Ttg	p.L611L	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	611	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTCTGGTACAGCCCCACCACA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	84	85			NA	NA	17		NA											NA				10360803		2203	4300	6503	SO:0001819	synonymous_variant				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424	4622	4622		Myosins / Myosin superfamily : Class II	7574	protein-coding gene	gene with protein product		160742	myosin, heavy polypeptide 4, skeletal muscle		NA	8518795	Standard	NM_017533	NM_017533	NA	Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1831C>T	17.37:g.10360803G>A		NA		37	CCDS11154.1																																																																																			MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252731.1		-	ENST00000255381.2	Silent	SNP	17 : 10360803 - 10360803 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	531	112
MXRA5	25878	broad.mit.edu	37	X	3261761	3261761	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3261761C>A	ENST00000217939.6	-	2	268	c.114G>T	c.(112-114)gaG>gaT	p.E38D		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	38	LRRNT.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGCAGTGGACCTCGCTGGGGA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	41	46			NA	NA	X		NA											NA				3261761		2203	4300	6503	SO:0001583	missense			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825	25878	25878		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	7539	protein-coding gene	gene with protein product	adlican				NA	12101425	Standard	NM_015419	NM_015419	NA	Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.114G>T	X.37:g.3261761C>A	ENSP00000217939:p.Glu38Asp	NA	Q6P1M7|Q9Y3Y8	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.266769	0.59540	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.02606	4.23	3.17	-0.504	0.11997	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.38436	U	0.001690	T	0.07234	0.0183	L	0.41632	1.29	0.24000	N	0.996212	D	0.76494	0.999	D	0.73708	0.981	T	0.08046	-1.0741	10	0.72032	D	0.01	.	9.8629	0.41125	0.0:0.523:0.0:0.477	.	38	Q9NR99	MXRA5_HUMAN	D	38	ENSP00000217939:E38D	ENSP00000217939:E38D	E	-	3	2	MXRA5	3271761	0.981000	0.34729	0.993000	0.49108	0.783000	0.44284	0.003000	0.13083	-0.114000	0.11936	0.506000	0.49869	GAG	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055655.2		-	ENST00000217939.6	Missense_Mutation	SNP	X : 3261761 - 3261761 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	139	44
FNDC1	84624	broad.mit.edu	37	6	159647514	159647514	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159647514C>T	ENST00000297267.9	+	9	1282	c.1082C>T	c.(1081-1083)aCa>aTa	p.T361I	FNDC1_ENST00000340366.6_Missense_Mutation_p.T361I|FNDC1_ENST00000480856.1_3'UTR	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	361	Fibronectin type-III 4.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCCCTACCACAGCTCCTGAA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	79	82			NA	NA	6		NA											NA				159647514		1869	4104	5973	SO:0001583	missense			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694	84624	84624		Fibronectin type III domain containing	21184	protein-coding gene	gene with protein product		609991	fibronectin type III domain containing 2	FNDC2	NA	11347906	Standard	NM_032532	NM_032532	NA	Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1082C>T	6.37:g.159647514C>T	ENSP00000297267:p.Thr361Ile	NA	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	37	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.836532	0.50951	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.54675	0.56;3.96	5.54	4.67	0.58626	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.178634	0.47093	D	0.000256	T	0.36276	0.0961	L	0.46157	1.445	0.30456	N	0.774782	P;P	0.52842	0.956;0.876	P;P	0.51016	0.656;0.637	T	0.43766	-0.9371	10	0.62326	D	0.03	-5.3003	5.4101	0.16344	0.1226:0.5707:0.2298:0.0769	.	361;361	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	I	361	ENSP00000297267:T361I;ENSP00000342460:T361I	ENSP00000297267:T361I	T	+	2	0	FNDC1	159567502	0.988000	0.35896	0.985000	0.45067	0.996000	0.88848	3.207000	0.51106	1.483000	0.48342	0.655000	0.94253	ACA	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042897.3		+	ENST00000297267.9	Missense_Mutation	SNP	6 : 159647514 - 159647514 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	95	12
MYT1L	23040	broad.mit.edu	37	2	1926671	1926671	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1926671C>T	ENST00000399161.2	-	10	1617	c.870G>A	c.(868-870)tcG>tcA	p.S290S	MYT1L_ENST00000428368.2_Silent_p.S290S	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	290					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGTCTTGCTGCGACATGCTGT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		2,4142		0,2,2070	195	196	196		870	-12.1	0	2		196	1,8439		0,1,4219	no	coding-synonymous	MYT1L	NM_015025.2		0,3,6289	TT,TC,CC	NA	0.0118,0.0483,0.0238		290/1185	1926671	3,12581	2072	4220	6292	SO:0001819	synonymous_variant			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487	23040	23040		Zinc fingers, C2HC-type containing	7623	protein-coding gene	gene with protein product	neural zinc finger transcription factor 1	613084			NA	9373037	Standard	NM_015025	XM_006711862	NA	Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.870G>A	2.37:g.1926671C>T		NA	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	37																																																																																				MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000322493.1		-	ENST00000399161.2	Silent	SNP	2 : 1926671 - 1926671 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1145	153
MAGEL2	54551	broad.mit.edu	37	15	23890257	23890257	+	Missense_Mutation	SNP	G	G	A	rs2233067	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23890257G>A	ENST00000532292.1	-	1	918	c.824C>T	c.(823-825)cCg>cTg	p.P275L		NM_019066.4	NP_061939.3			MAGE-like 2	NA										breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GCGGCGTGGCGGCTCGACGGA	0.642		NA											G	8	0.0037	0.01	0.0028	2184	NA	0.9994	,	,	NA	0.0022	NA	NA	NA	0.0036	0.9351	LOWCOV	NA	NA	6e-04	SNP								NA				0								G	LEU/PRO	65,4313		3,59,2127	37	44	42		2633	0.9	0	15	dbSNP_98	42	0,8582		0,0,4291	yes	missense	MAGEL2	NM_019066.4	98	3,59,6418	AA,AG,GG	NA	0.0,1.4847,0.5015	probably-damaging	878/1250	23890257	65,12895	2189	4291	6480	SO:0001583	missense			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585	54551	54551			6814	protein-coding gene	gene with protein product		605283		NDNL1	NA	10556298	Standard	NM_019066	NM_019066	NA	Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.824C>T	15.37:g.23890257G>A	ENSP00000433433:p.Pro275Leu	NA		37		8	0.003663003663003663	7	0.014227642276422764	1	0.0027624309392265192	0	0.0	0	0.0	G	4.110	0.018496	0.07959	0.014847	0.0	ENSG00000254585	ENST00000532292	.	.	.	3.98	0.855	0.19013	.	.	.	.	.	T	0.17066	0.0410	N	0.24115	0.695	0.09310	N	1	.	.	.	.	.	.	T	0.23762	-1.0179	5	.	.	.	.	6.9994	0.24801	0.0933:0.0:0.4877:0.419	rs2233067;rs2233067	.	.	.	C	307	.	.	R	-	1	0	MAGEL2	21441350	0.625000	0.27111	0.002000	0.10522	0.001000	0.01503	0.584000	0.23864	-0.028000	0.13850	-0.797000	0.03246	CGC	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000395182.2		-	ENST00000532292.1	Missense_Mutation	SNP	15 : 23890257 - 23890257 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	434	70
SLC34A3	142680	broad.mit.edu	37	9	140128878	140128878	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140128878C>T	ENST00000538474.1	+	11	1328	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	SLC34A3_ENST00000361134.2_Silent_p.F368F	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	368					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		ACTTCCCCTTCCCGCTGGGCT	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													9	12	11			NA	NA	9		NA											NA				140128878		2146	4241	6387	SO:0001819	synonymous_variant			AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569	142680	142680		Solute carriers	20305	protein-coding gene	gene with protein product		609826	solute carrier family 34 (sodium phosphate), member 3		NA	11880379, 16358215, 16358214	Standard	NM_080877	NM_080877	NA	Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.1104C>T	9.37:g.140128878C>T		NA	A2BFA1	37	CCDS7038.1																																																																																			SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254712.1		+	ENST00000538474.1	Silent	SNP	9 : 140128878 - 140128878 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	169	34
ROBO3	64221	broad.mit.edu	37	11	124738946	124738946	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124738946G>A	ENST00000397801.1	+	2	601	c.409G>A	c.(409-411)Gac>Aac	p.D137N	ROBO3_ENST00000538940.1_Missense_Mutation_p.D115N	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	137	Ig-like C2-type 1.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CGCGCGGCCGGACGAAGGTGT	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	14	13			NA	NA	11		NA											NA				124738946		1920	4110	6030	SO:0001583	missense			AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134	64221	64221		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	13433	protein-coding gene	gene with protein product		608630	roundabout (axon guidance receptor, Drosophila) homolog 3, horizontal gaze palsy with progressive scoliosis	HGPPS	NA	15105459	Standard	XM_370663	NM_022370	NA	Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.409G>A	11.37:g.124738946G>A	ENSP00000380903:p.Asp137Asn	NA		37	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	G	36	5.791849	0.96945	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.80994	-1.44;-1.44	4.71	4.71	0.59529	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.43416	D	0.000579	D	0.91791	0.7403	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93877	0.7167	10	0.87932	D	0	.	17.2808	0.87128	0.0:0.0:1.0:0.0	.	137	Q96MS0	ROBO3_HUMAN	N	137;115	ENSP00000380903:D137N;ENSP00000441797:D115N	ENSP00000380903:D137N	D	+	1	0	ROBO3	124244156	1.000000	0.71417	0.980000	0.43619	0.994000	0.84299	9.801000	0.99128	2.171000	0.68590	0.462000	0.41574	GAC	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387091.1		+	ENST00000397801.1	Missense_Mutation	SNP	11 : 124738946 - 124738946 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	85	13
KIAA1522	57648	broad.mit.edu	37	1	33235788	33235788	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33235788G>A	ENST00000294521.3	+	4	545				KIAA1522_ENST00000373481.3_Silent_p.E288E|KIAA1522_ENST00000373480.1_Silent_p.E277E|KIAA1522_ENST00000401073.2_Silent_p.E336E	NM_001198973.1	NP_001185902.1	Q9P206	K1522_HUMAN	KIAA1522	NA										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GGCCTGCAGAGCCCCTGAGCC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	41	39			NA	NA	1		NA											NA				33235788		2020	4157	6177	SO:0001627	intron_variant			AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522	57648	57648			29301	protein-coding gene	gene with protein product					NA	10819331	Standard		NM_020888	NA	Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000294521.3:c.409+1412G>A	1.37:g.33235788G>A		NA	B5MDY0|Q8TCQ0	37	CCDS55589.1																																																																																			KIAA1522-005	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382044.1		+	ENST00000294521.3	Intron	SNP	1 : 33235788 - 33235788 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	455	49
TAL1	6886	broad.mit.edu	37	1	47685563	47685563	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47685563C>T	ENST00000294339.3	-	4	1401	c.825G>A	c.(823-825)gcG>gcA	p.A275A	TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371884.2_Silent_p.A275A|TAL1_ENST00000371883.3_Silent_p.A277A	NM_003189.2	NP_003180.1	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	275					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						CATCTGGGGGCGCGccgcccc	0.701		NA	T	TRD@, SIL	lymphoblastic leukemia/biphasic									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1p32	6886	T-cell acute lymphocytic leukemia 1 (SCL)		L	0													12	15	14			NA	NA	1		NA											NA				47685563		2157	4259	6416	SO:0001819	synonymous_variant			M29038	CCDS547.1	1p32	2013-05-21	2001-12-04		ENSG00000162367	ENSG00000162367	6886	6886		Basic helix-loop-helix proteins	11556	protein-coding gene	gene with protein product		187040		TCL5	NA	2740341	Standard	NM_003189	NM_001287347	NA	Approved	SCL, bHLHa17	uc009vyq.2	P17542	OTTHUMG00000007847	ENST00000294339.3:c.825G>A	1.37:g.47685563C>T		NA	D3DQ24	37	CCDS547.1																																																																																			TAL1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021640.1		-	ENST00000294339.3	Silent	SNP	1 : 47685563 - 47685563 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	192	46
PTPRB	5787	broad.mit.edu	37	12	70974816	70974816	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70974816C>A	ENST00000550358.1	-	10	2603	c.2578G>T	c.(2578-2580)Gtg>Ttg	p.V860L	PTPRB_ENST00000451516.2_Splice_Site_p.V552F|PTPRB_ENST00000538708.1_Splice_Site_p.V642F|PTPRB_ENST00000551525.1_Splice_Site_p.V859F|PTPRB_ENST00000334414.6_Splice_Site_p.V860F|PTPRB_ENST00000550857.1_Splice_Site_p.V552F|PTPRB_ENST00000261266.5_Splice_Site_p.V642F			P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	730	Fibronectin type-III 10.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TACTTCTTACCTGTTCTTCCC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	76	76			NA	NA	12		NA											NA				70974816		1904	4135	6039	SO:0001630	splice_region_variant			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11					NA	5787		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing	9665	protein-coding gene	gene with protein product		176882		PTPB	NA	2169617	Standard		NM_001109754	NA	Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000550358.1:c.2578+1G>T	12.37:g.70974816C>A		NA	B7ZKT0|C9JX87|Q14D85|Q3MIV7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.9|29.9	5.043851|5.043851	0.93685|0.93685	.|.	.|.	ENSG00000127329|ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122|ENST00000550358;ENST00000544694	T;T;T;T;T;T;T|T	0.05447|0.04862	3.44;3.44;3.44;3.44;3.44;3.44;3.44|3.54	5.86|5.86	5.86|5.86	0.93980|0.93980	Fibronectin, type III (1);Immunoglobulin-like fold (1);|.	0.260319|0.260319	0.38897|0.38897	N|N	0.001529|0.001529	T|T	0.22781|0.22781	0.0550|0.0550	M|M	0.83223|0.83223	2.63|2.63	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|P	0.89917|0.36733	0.998;0.998;0.997;0.997;1.0;0.997|0.567	D;D;D;D;D;D|P	0.78314|0.47915	0.983;0.983;0.969;0.976;0.991;0.929|0.561	T|T	0.00166|0.00166	-1.1966|-1.1966	9|9	.|.	.|.	.|.	.|.	20.1986|20.1986	0.98248|0.98248	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	552;642;739;859;860;642|860	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467|F8VU56	.;.;.;.;.;PTPRB_HUMAN|.	F|L	860;552;642;552;642;859;739|860	ENSP00000334928:V860F;ENSP00000393028:V552F;ENSP00000438927:V642F;ENSP00000447302:V552F;ENSP00000261266:V642F;ENSP00000448349:V859F;ENSP00000446982:V739F|ENSP00000448058:V860L	.|.	V|V	-|-	1|1	0|0	PTPRB|PTPRB	69261083|69261083	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.131000|7.131000	0.77243|0.77243	2.781000|2.781000	0.95711|0.95711	0.650000|0.650000	0.86243|0.86243	GTC|GTG	PTPRB-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000404436.1	Missense_Mutation	-	ENST00000550358.1	Splice_Site	SNP	12 : 70974816 - 70974816 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	282	48
VPS13A	23230	broad.mit.edu	37	9	79968343	79968343	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79968343G>T	ENST00000360280.3	+	54	7698	c.7438G>T	c.(7438-7440)Gat>Tat	p.D2480Y	VPS13A_ENST00000376636.3_Missense_Mutation_p.D2441Y|VPS13A_ENST00000376634.4_Missense_Mutation_p.D2480Y|VPS13A_ENST00000357409.5_Missense_Mutation_p.D2480Y	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2480					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GATGCCTATAGATTTGGGGGA	0.279		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	65	64			NA	NA	9		NA											NA				79968343		2203	4300	6503	SO:0001583	missense			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969	23230	23230			1908	protein-coding gene	gene with protein product	chorein	605978	chorea acanthocytosis, vacuolar protein sorting 13A (yeast)	CHAC	NA	9382101, 11381253	Standard	NM_015186	NM_001018038	NA	Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.7438G>T	9.37:g.79968343G>T	ENSP00000353422:p.Asp2480Tyr	NA	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	6.348	0.432306	0.12045	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.48836	0.96;0.8;0.87;0.96	5.22	-0.24	0.13047	.	0.697544	0.14185	N	0.335709	T	0.28234	0.0697	N	0.24115	0.695	0.26116	N	0.980619	B;B;B;B	0.11235	0.001;0.004;0.001;0.0	B;B;B;B	0.16722	0.016;0.003;0.007;0.007	T	0.15350	-1.0440	10	0.33141	T	0.24	.	5.5173	0.16914	0.3879:0.2722:0.3399:0.0	.	2441;2480;2480;2480	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	Y	2480;2441;2480;2480	ENSP00000365821:D2480Y;ENSP00000365823:D2441Y;ENSP00000353422:D2480Y;ENSP00000349985:D2480Y	ENSP00000349985:D2480Y	D	+	1	0	VPS13A	79158163	0.780000	0.28664	0.317000	0.25265	0.604000	0.37047	1.524000	0.35942	-0.303000	0.08856	-0.274000	0.10170	GAT	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052753.2		+	ENST00000360280.3	Missense_Mutation	SNP	9 : 79968343 - 79968343 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	283	33
NEK11	79858	broad.mit.edu	37	3	130884283	130884283	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130884283G>T	ENST00000510769.1	+	8	1034	c.781G>T	c.(781-783)Gaa>Taa	p.E261*	NEK11_ENST00000356918.4_Nonsense_Mutation_p.E366*|NEK11_ENST00000507910.1_Nonsense_Mutation_p.E366*|NEK11_ENST00000429253.2_Nonsense_Mutation_p.E366*|NEK11_ENST00000383366.4_Nonsense_Mutation_p.E366*|NEK11_ENST00000510688.1_Nonsense_Mutation_p.E366*|NEK11_ENST00000508196.1_Nonsense_Mutation_p.E366*|NEK11_ENST00000511262.1_Nonsense_Mutation_p.E366*|NEK11_ENST00000412440.2_Nonsense_Mutation_p.E218*			Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	366	Protein kinase.				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						GATTGTGGAAGAAAAATATGA	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	64	63			NA	NA	3		NA											NA				130884283		2203	4300	6503	SO:0001587	stop_gained			AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670	79858	79858			18593	protein-coding gene	gene with protein product		609779	NIMA (never in mitosis gene a)- related kinase 11		NA		Standard	NM_024800	NM_024800	NA	Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.781G>T	3.37:g.130884283G>T	ENSP00000421549:p.Glu261*	NA	A6NHD7|Q5JPC0|Q8NG65|Q8TBY1|Q9H5F4	37		.	.	.	.	.	.	.	.	.	.	G	40	8.313404	0.98754	.	.	ENSG00000114670	ENST00000510769;ENST00000429253;ENST00000356918;ENST00000510688;ENST00000511262;ENST00000383366;ENST00000412440;ENST00000507910;ENST00000508196	.	.	.	5.86	5.86	0.93980	.	0.120929	0.36665	N	0.002476	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	19.3335	0.94306	0.0:0.0:1.0:0.0	.	.	.	.	X	261;366;366;366;366;366;218;366;366	.	ENSP00000349389:E366X	E	+	1	0	NEK11	132366973	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.096000	0.76960	2.937000	0.99478	0.650000	0.86243	GAA	NEK11-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000356757.1		+	ENST00000510769.1	Nonsense_Mutation	SNP	3 : 130884283 - 130884283 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	190	32
LAMA1	284217	broad.mit.edu	37	18	6947173	6947173	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6947173C>T	ENST00000389658.3	-	61	8926	c.8833G>A	c.(8833-8835)Gtg>Atg	p.V2945M		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2945	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGCCGTCCACAAGCTCTAGT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	109	123			NA	NA	18		NA											NA				6947173		2203	4300	6503	SO:0001583	missense			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680	284217	284217		Laminins	6481	protein-coding gene	gene with protein product		150320		LAMA	NA	2591971	Standard	NM_005559	NM_005559	NA	Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8833G>A	18.37:g.6947173C>T	ENSP00000374309:p.Val2945Met	NA		37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	6.937	0.542615	0.13250	.	.	ENSG00000101680	ENST00000389658	T	0.77489	-1.1	5.64	2.88	0.33553	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.291766	0.31884	N	0.006913	T	0.80110	0.4563	M	0.84683	2.71	0.09310	N	1	B;B	0.34200	0.393;0.441	B;B	0.40199	0.232;0.322	T	0.70916	-0.4742	10	0.33141	T	0.24	.	11.315	0.49386	0.0:0.8068:0.0:0.1932	.	2945;275	P25391;B3KSD8	LAMA1_HUMAN;.	M	2945	ENSP00000374309:V2945M	ENSP00000374309:V2945M	V	-	1	0	LAMA1	6937173	0.366000	0.25014	0.040000	0.18447	0.107000	0.19398	0.920000	0.28705	1.404000	0.46819	-0.448000	0.05591	GTG	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257369.1		-	ENST00000389658.3	Missense_Mutation	SNP	18 : 6947173 - 6947173 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	57
THNSL2	55258	broad.mit.edu	37	2	88474333	88474333	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88474333G>A	ENST00000449349.1	+	4	484	c.303G>A	c.(301-303)aaG>aaA	p.K101K	THNSL2_ENST00000343544.4_Silent_p.K133K|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000324166.5_Silent_p.K133K|THNSL2_ENST00000402102.1_Silent_p.K133K|THNSL2_ENST00000358591.2_Silent_p.K133K|THNSL2_ENST00000377254.3_Silent_p.K133K			Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	133					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						AGAGGGAGAAGCACGTCACTG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	137	150			NA	NA	2		NA											NA				88474333		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115	55258	55258			25602	protein-coding gene	gene with protein product		611261			NA	17034760	Standard	NM_018271	NM_018271	NA	Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000449349.1:c.303G>A	2.37:g.88474333G>A		NA	B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	37																																																																																				THNSL2-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000338223.1		+	ENST00000449349.1	Silent	SNP	2 : 88474333 - 88474333 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	493	116
FAM161A	84140	broad.mit.edu	37	2	62066556	62066556	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:62066556C>A	ENST00000404929.1	-	3	1594	c.1583G>T	c.(1582-1584)aGg>aTg	p.R528M	FAM161A_ENST00000405894.3_Splice_Site_p.R528I	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	528					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ACTTACTTACCTTACGGCTTG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	74	73			NA	NA	2		NA											NA				62066556		1960	4152	6112	SO:0001630	splice_region_variant				CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264	84140	84140			25808	protein-coding gene	gene with protein product		613596	retinitis pigmentosa 28 (autosomal recessive)	RP28	NA	10507729, 20705278, 20705279	Standard	NM_032180	NM_032180	NA	Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000404929.1:c.1583+1G>T	2.37:g.62066556C>A		NA	B4DJV7|Q9H8R2	37	CCDS56120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.119840|4.119840	0.77323|0.77323	.|.	.|.	ENSG00000170264|ENSG00000170264	ENST00000405894|ENST00000404929	T|T	0.25912|0.26067	1.77|1.76	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.58524|0.58524	0.2128|0.2128	M|M	0.85945|0.85945	2.785|2.785	0.80722|0.80722	D|D	1|1	D|D	0.89917|0.89917	1.0|1.0	D|D	0.97110|0.97110	1.0|1.0	T|T	0.60495|0.60495	-0.7252|-0.7252	9|9	.|.	.|.	.|.	.|.	19.6789|19.6789	0.95950|0.95950	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	528|528	Q3B820|Q3B820-3	F161A_HUMAN|.	I|M	528|528	ENSP00000385893:R528I|ENSP00000385158:R528M	.|.	R|R	-|-	2|2	0|0	FAM161A|FAM161A	61920060|61920060	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.227000|0.227000	0.25037|0.25037	6.295000|6.295000	0.72744|0.72744	2.736000|2.736000	0.93811|0.93811	0.643000|0.643000	0.83706|0.83706	AGA|AGG	FAM161A-005	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325541.2	Missense_Mutation	-	ENST00000404929.1	Splice_Site	SNP	2 : 62066556 - 62066556 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	405	75
RNF157	114804	broad.mit.edu	37	17	74154560	74154560	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74154560C>T	ENST00000269391.6	-	13	1459	c.1327G>A	c.(1327-1329)Gtg>Atg	p.V443M	RNF157_ENST00000319945.6_Missense_Mutation_p.V443M	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	443	Ser-rich.						zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			TCATGCAGCACGGAAGAGTTT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(186;507 2120 27388 27773 52994)							NA				0													108	96	100			NA	NA	17		NA											NA				74154560		2203	4300	6503	SO:0001583	missense			AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576	114804	114804		RING-type (C3HC4) zinc fingers	29402	protein-coding gene	gene with protein product					NA	11572484	Standard	XM_290732	NM_052916	NA	Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.1327G>A	17.37:g.74154560C>T	ENSP00000269391:p.Val443Met	NA	Q8NB72|Q96N56	37	CCDS32740.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.702764	0.30232	.	.	ENSG00000141576	ENST00000269391;ENST00000319945	T;T	0.27402	1.67;1.76	5.7	4.54	0.55810	.	0.121727	0.53938	D	0.000050	T	0.17238	0.0414	N	0.25485	0.75	0.80722	D	1	P;P	0.38978	0.652;0.581	B;B	0.26517	0.07;0.048	T	0.03619	-1.1019	10	0.41790	T	0.15	-6.5956	11.1046	0.48194	0.0:0.8707:0.0:0.1293	.	443;443	Q96PX1-2;Q96PX1	.;RN157_HUMAN	M	443	ENSP00000269391:V443M;ENSP00000321837:V443M	ENSP00000269391:V443M	V	-	1	0	RNF157	71666155	0.948000	0.32251	0.842000	0.33263	0.335000	0.28730	1.991000	0.40727	2.670000	0.90874	0.655000	0.94253	GTG	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255874.2		-	ENST00000269391.6	Missense_Mutation	SNP	17 : 74154560 - 74154560 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	336	42
MSC	9242	broad.mit.edu	37	8	72754977	72754977	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72754977C>A	ENST00000325509.4	-	2	829	c.540G>T	c.(538-540)tgG>tgT	p.W180C	RP11-383H13.1_ENST00000521467.1_Intron|MSC_ENST00000518440.1_5'UTR	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	180					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			CCACGAATGGCCATGTCTGTA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													228	228	228			NA	NA	8		NA											NA				72754977		1932	4132	6064	SO:0001583	missense				CCDS43746.1	8q13.3	2013-06-07	2010-04-28		ENSG00000178860	ENSG00000178860	9242	9242		Basic helix-loop-helix proteins	7321	protein-coding gene	gene with protein product	activated B-cell factor-1	603628	musculin (activated B-cell factor-1)		NA	9584154, 10198176	Standard	NM_005098	NM_005098	NA	Approved	ABF-1, bHLHa22	uc003xyx.1	O60682	OTTHUMG00000164489	ENST00000325509.4:c.540G>T	8.37:g.72754977C>A	ENSP00000321445:p.Trp180Cys	NA	O75946|Q53XZ2|Q9BRE7	37	CCDS43746.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598965	0.87055	.	.	ENSG00000178860	ENST00000325509	D	0.87887	-2.31	4.88	4.88	0.63580	Helix-loop-helix DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.92047	0.7480	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92801	0.6256	10	0.87932	D	0	.	18.2206	0.89901	0.0:1.0:0.0:0.0	.	180	O60682	MUSC_HUMAN	C	180	ENSP00000321445:W180C	ENSP00000321445:W180C	W	-	3	0	MSC	72917531	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.137000	0.77295	2.559000	0.86315	0.462000	0.41574	TGG	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378974.1		-	ENST00000325509.4	Missense_Mutation	SNP	8 : 72754977 - 72754977 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1541	82
LGALS3BP	3959	broad.mit.edu	37	17	76967886	76967886	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76967886G>A	ENST00000591778.1	-	0	1394				LGALS3BP_ENST00000262776.3_Silent_p.G510G			Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	NA					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GATCTGAGCCGCCAGACTTGG	0.612		NA									OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(89;1105 1755 18102 21513)							NA				0													52	47	49			NA	NA	17		NA											NA				76967886		2203	4300	6503	SO:0001624	3_prime_UTR_variant			L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679	3959	3959		BTB/POZ domain containing, Endogenous ligands	6564	protein-coding gene	gene with protein product	L3 antigen, Mac-2-binding protein, serum protein 90K, transport and golgi organization 10 homolog B (Drosophila)	600626			NA	7698018, 8034587, 8390986	Standard	NM_005567	NM_005567	NA	Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000591778.1:c.*659C>T	17.37:g.76967886G>A		1172	Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	37																																																																																				LGALS3BP-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000437899.2		-	ENST00000591778.1	3'UTR	SNP	17 : 76967886 - 76967886 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	175	43
BAI2	576	broad.mit.edu	37	1	32221720	32221720	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32221720C>A	ENST00000373658.3	-	4	1059	c.718G>T	c.(718-720)Ggc>Tgc	p.G240C	BAI2_ENST00000527361.1_Missense_Mutation_p.G240C|BAI2_ENST00000398542.1_Missense_Mutation_p.G228C|BAI2_ENST00000398547.1_Missense_Mutation_p.G228C|BAI2_ENST00000398556.3_Missense_Mutation_p.G243C|BAI2_ENST00000257070.4_Missense_Mutation_p.G240C|BAI2_ENST00000398538.1_Missense_Mutation_p.G228C|BAI2_ENST00000373655.2_Missense_Mutation_p.G240C	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	240					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GCAGGAGGGCCTGGAGATGTG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	45	42			NA	NA	1		NA											NA				32221720		2203	4299	6502	SO:0001583	missense			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753	576	576		-, GPCR / Class B : Orphans	944	protein-coding gene	gene with protein product		602683			NA	9533023	Standard	NM_001703	XM_006710783	NA	Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.718G>T	1.37:g.32221720C>A	ENSP00000362762:p.Gly240Cys	NA	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	37	CCDS346.2	.	.	.	.	.	.	.	.	.	.	C	9.956	1.221614	0.22457	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T	0.44881	1.59;1.79;0.96;0.96;1.94;0.91;0.91;0.98;1.56;1.42	5.08	2.03	0.26663	.	0.169510	0.28515	N	0.015080	T	0.27697	0.0681	N	0.14661	0.345	0.19300	N	0.999974	B;D;B;P;P;B	0.58268	0.412;0.982;0.086;0.771;0.606;0.0	B;P;B;B;B;B	0.47162	0.161;0.54;0.015;0.321;0.424;0.0	T	0.08452	-1.0721	10	0.54805	T	0.06	.	7.7798	0.29058	0.0:0.6984:0.1384:0.1632	.	228;240;228;228;240;240	A2A3C3;O60241-4;O60241-3;A2A3C1;O60241-2;O60241	.;.;.;.;.;BAI2_HUMAN	C	243;228;240;240;228;240;240;228;233;274	ENSP00000381564:G243C;ENSP00000381555:G228C;ENSP00000362762:G240C;ENSP00000362759:G240C;ENSP00000381550:G228C;ENSP00000257070:G240C;ENSP00000435397:G240C;ENSP00000381548:G228C;ENSP00000410921:G233C;ENSP00000437219:G274C	ENSP00000257070:G240C	G	-	1	0	BAI2	31994307	0.001000	0.12720	0.962000	0.40283	0.928000	0.56348	0.374000	0.20501	1.288000	0.44600	0.462000	0.41574	GGC	BAI2-015	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381838.1		-	ENST00000373658.3	Missense_Mutation	SNP	1 : 32221720 - 32221720 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	367	24
KRTAP15-1	254950	broad.mit.edu	37	21	31812700	31812700	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31812700C>A	ENST00000334067.3	+	1	104	c.55C>A	c.(55-57)Ctg>Atg	p.L19M		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	19						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						TGGAAGTTACCTGAGGTATCC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	93	94			NA	NA	21		NA											NA				31812700		2203	4300	6503	SO:0001583	missense			AP001708	CCDS13593.1	21q22.1	2008-05-21			ENSG00000186970	ENSG00000186970	254950	254950		Keratin associated proteins	18927	protein-coding gene	gene with protein product					NA	12359730	Standard		NM_181623	NA	Approved	KAP15.1	uc002yod.3	Q3LI76	OTTHUMG00000057784	ENST00000334067.3:c.55C>A	21.37:g.31812700C>A	ENSP00000334866:p.Leu19Met	NA	Q2M3F4	37	CCDS13593.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.228604	0.39399	.	.	ENSG00000186970	ENST00000334067	T	0.03717	3.83	4.7	-0.183	0.13284	.	0.385350	0.18546	N	0.138051	T	0.11707	0.0285	M	0.68593	2.085	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.03993	-1.0986	10	0.59425	D	0.04	-1.5745	7.2605	0.26201	0.0:0.5014:0.0:0.4986	.	19	Q3LI76	KR151_HUMAN	M	19	ENSP00000334866:L19M	ENSP00000334866:L19M	L	+	1	2	KRTAP15-1	30734571	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.369000	0.07533	-0.042000	0.13535	0.655000	0.94253	CTG	KRTAP15-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128236.1		+	ENST00000334067.3	Missense_Mutation	SNP	21 : 31812700 - 31812700 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	394	35
PCNXL3	399909	broad.mit.edu	37	11	65392409	65392409	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65392409G>A	ENST00000355703.3	+	16	3380	c.2841G>A	c.(2839-2841)ccG>ccA	p.P947P		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	947						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCACCAGCCCGCTCACGGCAG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4173		0,1,2086	18	21	20		2841	-10.1	0.3	11		20	0,8422		0,0,4211	no	coding-synonymous	PCNXL3	NM_032223.2		0,1,6297	AA,AG,GG	NA	0.0,0.024,0.0079		947/2035	65392409	1,12595	2087	4211	6298	SO:0001819	synonymous_variant			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136	399909	399909			18760	protein-coding gene	gene with protein product					NA	15146197	Standard	NM_032223	NM_032223	NA	Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.2841G>A	11.37:g.65392409G>A		NA	Q6MZN8	37	CCDS44650.1																																																																																			PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390321.1		+	ENST00000355703.3	Silent	SNP	11 : 65392409 - 65392409 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	125	28
AGER	177	broad.mit.edu	37	6	32151969	32151969	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32151969C>T	ENST00000375076.4	-	1	132	c.31G>A	c.(31-33)Gtg>Atg	p.V11M	AGER_ENST00000375069.3_De_novo_Start_InFrame|AGER_ENST00000375070.3_Missense_Mutation_p.V42M|AGER_ENST00000538695.1_Missense_Mutation_p.V11M|AGER_ENST00000375065.5_Missense_Mutation_p.V11M|AGER_ENST00000375055.2_Missense_Mutation_p.V11M|AGER_ENST00000375067.3_Missense_Mutation_p.V11M|AGER_ENST00000438221.2_Missense_Mutation_p.V11M	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	11					cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						AGGACCAGCACCCAGGCTCCA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	47	55			NA	NA	6		NA											NA				32151969		1511	2709	4220	SO:0001583	missense			M91211	CCDS4746.1, CCDS4747.1, CCDS56417.1, CCDS56418.1, CCDS75429.1	6p21.3	2013-01-29			ENSG00000204305	ENSG00000204305	177	177		Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	320	protein-coding gene	gene with protein product		600214			NA	7713518	Standard	NM_001136	NM_001136	NA	Approved	RAGE	uc003oap.2	Q15109	OTTHUMG00000031120	ENST00000375076.4:c.31G>A	6.37:g.32151969C>T	ENSP00000364217:p.Val11Met	NA	A2BFI7|B0V176|Q15279|Q9H2X7|Q9Y3R3	37	CCDS4746.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.648675	0.29336	.	.	ENSG00000204305	ENST00000375067;ENST00000375055;ENST00000375076;ENST00000375070;ENST00000546237;ENST00000438221;ENST00000375065;ENST00000450110;ENST00000375056;ENST00000538695	T;T;T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48	4.67	1.38	0.22167	.	0.482456	0.17591	N	0.168765	T	0.17789	0.0427	N	0.14661	0.345	0.80722	D	1	B;B;D;B;P;P;D;B;B;P;P;B	0.69078	0.36;0.055;0.997;0.36;0.5;0.633;0.996;0.36;0.156;0.5;0.831;0.027	B;B;D;B;B;B;D;B;B;B;B;B	0.78314	0.09;0.063;0.991;0.09;0.09;0.184;0.986;0.09;0.063;0.111;0.284;0.046	T	0.11518	-1.0584	10	0.51188	T	0.08	-4.4117	4.2601	0.10737	0.1736:0.6105:0.0:0.2159	.	11;11;11;11;11;11;11;11;11;11;11;11	B5A978;B5A979;B5A981;B5A980;A7Y2U9;Q15109-3;Q3L1R7;Q3L1R6;Q3L1R5;Q3L1R8;Q15109-2;Q15109	.;.;.;.;.;.;.;.;.;.;.;RAGE_HUMAN	M	11;11;11;42;11;11;11;11;11;11	ENSP00000364208:V11M;ENSP00000364195:V11M;ENSP00000364217:V11M;ENSP00000364211:V42M;ENSP00000387887:V11M;ENSP00000364206:V11M;ENSP00000398466:V11M;ENSP00000364196:V11M;ENSP00000445389:V11M	ENSP00000364195:V11M	V	-	1	0	AGER	32259947	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.350000	0.20079	0.452000	0.26830	0.655000	0.94253	GTG	AGER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076200.1		-	ENST00000375076.4	Missense_Mutation	SNP	6 : 32151969 - 32151969 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	175	24
ATP11A	23250	broad.mit.edu	37	13	113439559	113439559	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113439559C>T	ENST00000487903.1	+	2	238	c.150C>T	c.(148-150)atC>atT	p.I50I	ATP11A_ENST00000283558.8_Silent_p.I50I|ATP11A_ENST00000375645.3_Silent_p.I50I|ATP11A_ENST00000375630.2_Silent_p.I50I			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	50					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)				ACAACAGGATCGTCTCGTCCA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	148	152			NA	NA	13		NA											NA				113439559		2203	4300	6503	SO:0001819	synonymous_variant			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.150C>T	13.37:g.113439559C>T		NA	Q5VXT2	37	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	C	6.199	0.404897	0.11754	.	.	ENSG00000068650	ENST00000418678	.	.	.	4.84	-4.63	0.03359	.	.	.	.	.	T	0.48169	0.1485	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46105	-0.9215	4	.	.	.	.	6.8484	0.24000	0.4604:0.3299:0.0:0.2097	.	.	.	.	L	25	.	.	S	+	2	0	ATP11A	112487560	0.684000	0.27642	0.737000	0.30932	0.497000	0.33675	-0.285000	0.08410	-0.864000	0.04078	-0.857000	0.03018	TCG	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045834.3		+	ENST00000487903.1	Silent	SNP	13 : 113439559 - 113439559 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	481	56
INTS3	65123	broad.mit.edu	37	1	153744853	153744853	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153744853C>T	ENST00000318967.2	+	27	3326	c.2758C>T	c.(2758-2760)Ctg>Ttg	p.L920L	INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000512605.1_Silent_p.L714L|INTS3_ENST00000456435.1_Silent_p.L714L|INTS3_ENST00000435409.2_Silent_p.L920L	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	921					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCAGCTGACTCTGGAGCAGAT	0.587		NA									OREG0013827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	85	87			NA	NA	1		NA											NA				153744853		2203	4300	6503	SO:0001819	synonymous_variant			BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624	65123	65123			26153	protein-coding gene	gene with protein product	sensor of single-strand DNA complex subunit A	611347	chromosome 1 open reading frame 60	C1orf60	NA	16239144	Standard	NM_023015	NM_023015	NA	Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.2758C>T	1.37:g.153744853C>T		1757	A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	37	CCDS1052.1																																																																																			INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090045.2		+	ENST00000318967.2	Silent	SNP	1 : 153744853 - 153744853 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	493	125
XPOT	11260	broad.mit.edu	37	12	64818836	64818836	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64818836G>A	ENST00000332707.5	+	13	1855	c.1326G>A	c.(1324-1326)cgG>cgA	p.R442R		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	442					intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		AGACTACACGGTTTATGGAAG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	100	100			NA	NA	12		NA											NA				64818836		2203	4300	6503	SO:0001819	synonymous_variant			AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575	11260	11260		Exportins	12826	protein-coding gene	gene with protein product		603180	exportin, tRNA (nuclear export receptor for tRNAs)		NA	9660920, 9512417	Standard	NM_007235	NM_007235	NA	Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.1326G>A	12.37:g.64818836G>A		NA	A6NLH1|O43784|Q8WUG2|Q9BVS7	37	CCDS31852.1																																																																																			XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401122.1		+	ENST00000332707.5	Silent	SNP	12 : 64818836 - 64818836 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	556	94
BMX	660	broad.mit.edu	37	X	15552432	15552432	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15552432C>A	ENST00000357607.2	+	12	1305	c.1117C>A	c.(1117-1119)Ctt>Att	p.L373I	BMX_ENST00000348343.6_Missense_Mutation_p.L373I|BMX_ENST00000342014.6_Missense_Mutation_p.L373I			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	373	SH2.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					CATTCCAAAGCTTATTCATTA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	123	124			NA	NA	X		NA											NA				15552432		2203	4297	6500	SO:0001583	missense			AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010	660	660		Pleckstrin homology (PH) domain containing, SH2 domain containing	1079	protein-coding gene	gene with protein product	BTK-like on X chromosome	300101			NA	7970727	Standard	NM_001721	NM_203281	NA	Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.1117C>A	X.37:g.15552432C>A	ENSP00000350224:p.Leu373Ile	NA	A6NIH9|O60564|Q12871	37	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338533	0.60963	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	T;T;T	0.58940	0.3;0.3;0.3	5.07	5.07	0.68467	SH2 motif (5);	0.000000	0.52532	D	0.000075	T	0.73048	0.3537	M	0.75884	2.315	0.43014	D	0.994558	D	0.76494	0.999	D	0.87578	0.998	T	0.73908	-0.3834	10	0.40728	T	0.16	.	11.31	0.49358	0.1819:0.8181:0.0:0.0	.	373	P51813	BMX_HUMAN	I	373	ENSP00000350224:L373I;ENSP00000308774:L373I;ENSP00000340082:L373I	ENSP00000340082:L373I	L	+	1	0	BMX	15462353	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	2.803000	0.47924	2.083000	0.62718	0.600000	0.82982	CTT	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055877.1		+	ENST00000357607.2	Missense_Mutation	SNP	X : 15552432 - 15552432 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	435	128
PPP2R3B	28227	broad.mit.edu	37	X	301612	301612	+	Silent	SNP	G	G	A	rs142640052	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:301612G>A	ENST00000390665.3	-	10	1257	c.1239C>T	c.(1237-1239)ctC>ctT	p.L413L		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	413	EF-hand.				cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGAAGTACTCGAGCTCGAACA	0.652		NA											G	2	9e-04	0.0041	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	9e-04	1	EXOME	NA	NA	0.002	SNP								NA				0										32,4358		0,32,2163	142	104	117		1239	-0.8	1	X	dbSNP_134	117	0,8576		0,0,4288	no	coding-synonymous	PPP2R3B	NM_013239.4		0,32,6451	AA,AG,GG	NA	0.0,0.7289,0.2468		413/576	301612	32,12934	2195	4288	6483	SO:0001819	synonymous_variant			AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393	28227	28227		Pseudoautosomal regions / PAR1, Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits, EF-hand domain containing	13417	protein-coding gene	gene with protein product		300339	protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta	PPP2R3L	NA	11173861	Standard	NM_013239	NM_013239	NA	Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.1239C>T	X.37:g.301612G>A		NA	Q6P4G9|Q7RTT1|Q96H01	37	CCDS14104.1																																																																																			PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055577.2		-	ENST00000390665.3	Silent	SNP	X : 301612 - 301612 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	277	9
ACSL3	2181	broad.mit.edu	37	2	223786120	223786120	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:223786120G>T	ENST00000357430.3	+	8	1459	c.928G>T	c.(928-930)Ggg>Tgg	p.G310W	ACSL3_ENST00000392066.3_Missense_Mutation_p.G310W	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	310					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TGGTATAACTGGGATGGCAGA	0.368		NA	T	ETV1	prostate									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		2	2q36	2181	acyl-CoA synthetase long-chain family member 3		E	0													154	151	152			NA	NA	2		NA											NA				223786120		2203	4300	6503	SO:0001583	missense			D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983	2181	2181		Acyl-CoA synthetase family	3570	protein-coding gene	gene with protein product		602371	fatty-acid-Coenzyme A ligase, long-chain 3	FACL3	NA		Standard	NM_004457	NM_004457	NA	Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.928G>T	2.37:g.223786120G>T	ENSP00000350012:p.Gly310Trp	NA	Q60I92|Q8IUM9	37	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792366	0.90453	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000421680	T;T;T	0.43688	2.84;2.84;0.94	5.11	5.11	0.69529	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.71500	0.3347	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78349	-0.2238	10	0.87932	D	0	-13.1041	18.5621	0.91104	0.0:0.0:1.0:0.0	.	310	O95573	ACSL3_HUMAN	W	310;310;80	ENSP00000350012:G310W;ENSP00000375918:G310W;ENSP00000404182:G80W	ENSP00000350012:G310W	G	+	1	0	ACSL3	223494364	1.000000	0.71417	0.982000	0.44146	0.963000	0.63663	9.869000	0.99810	2.374000	0.81015	0.591000	0.81541	GGG	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256862.2		+	ENST00000357430.3	Missense_Mutation	SNP	2 : 223786120 - 223786120 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	627	186
OR4X2	119764	broad.mit.edu	37	11	48267073	48267073	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48267073G>T	ENST00000302329.3	+	1	466	c.418G>T	c.(418-420)Gca>Tca	p.A140S		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGTAGGAATAGCATGGGTGGG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													224	184	198			NA	NA	11		NA											NA				48267073		2201	4298	6499	SO:0001583	missense			AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208	119764	119764		GPCR / Class A : Olfactory receptors	15184	protein-coding gene	gene with protein product					NA		Standard	NM_001004727	NM_001004727	NA	Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.418G>T	11.37:g.48267073G>T	ENSP00000307751:p.Ala140Ser	NA	B2RNK3|Q6IF73|Q96R63	37	CCDS31486.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.957308	0.34565	.	.	ENSG00000172208	ENST00000302329	T	0.36520	1.25	5.37	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000053	T	0.23249	0.0562	N	0.02960	-0.455	0.28159	N	0.929083	P	0.51791	0.948	P	0.55222	0.771	T	0.05402	-1.0887	10	0.23302	T	0.38	.	6.8171	0.23837	0.0882:0.0:0.7346:0.1772	.	140	Q8NGF9	OR4X2_HUMAN	S	140	ENSP00000307751:A140S	ENSP00000307751:A140S	A	+	1	0	OR4X2	48223649	0.165000	0.22948	0.039000	0.18376	0.557000	0.35523	1.926000	0.40084	1.212000	0.43366	0.650000	0.86243	GCA	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383376.2		+	ENST00000302329.3	Missense_Mutation	SNP	11 : 48267073 - 48267073 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	739	144
SLIT3	6586	broad.mit.edu	37	5	168310296	168310296	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:168310296G>T	ENST00000519560.1	-	5	878	c.459C>A	c.(457-459)ttC>ttA	p.F153L	SLIT3_ENST00000404867.3_Missense_Mutation_p.F153L|SLIT3_ENST00000332966.8_Missense_Mutation_p.F153L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	153					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGATGCCGCGGAACGCCTTCC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(29;311 847 10864 17279 24903)							NA				0													127	106	113			NA	NA	5		NA											NA				168310296		2203	4300	6503	SO:0001583	missense			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347	6586	6586			11087	protein-coding gene	gene with protein product		603745	slit (Drosophila) homolog 3	SLIL2	NA	9693030, 9813312	Standard	NM_003062	NM_001271946	NA	Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.459C>A	5.37:g.168310296G>T	ENSP00000430333:p.Phe153Leu	NA	A6H8U9|O95804|Q9UFH5	37	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916738	0.52546	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.64803	-0.12;-0.12;-0.12	4.97	4.1	0.47936	.	0.057875	0.64402	D	0.000002	T	0.66167	0.2762	L	0.41236	1.265	0.51482	D	0.999922	D;D	0.89917	0.99;1.0	D;D	0.91635	0.979;0.999	T	0.63097	-0.6713	10	0.33141	T	0.24	.	6.2219	0.20685	0.3298:0.0:0.6702:0.0	.	153;153	O75094-2;O75094	.;SLIT3_HUMAN	L	153	ENSP00000430333:F153L;ENSP00000332164:F153L;ENSP00000384890:F153L	ENSP00000332164:F153L	F	-	3	2	SLIT3	168242874	1.000000	0.71417	0.995000	0.50966	0.609000	0.37215	3.645000	0.54389	1.081000	0.41110	-0.140000	0.14226	TTC	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252792.4		-	ENST00000519560.1	Missense_Mutation	SNP	5 : 168310296 - 168310296 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	423	68
SERTAD1	29950	broad.mit.edu	37	19	40929186	40929186	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40929186C>T	ENST00000357949.4	-	2	426	c.268G>A	c.(268-270)Gtg>Atg	p.V90M		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	90					positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGGCTAGGCACAGGTGGCAGG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	16	15			NA	NA	19		NA											NA				40929186		2196	4291	6487	SO:0001583	missense			AF117959	CCDS12557.1	19q13.1-q13.2	2008-02-05				ENSG00000197019	29950	29950			17932	protein-coding gene	gene with protein product	CDK4-binding protein p34SEI, transcriptional regulator interacting with the PHD-bromodomain 1				NA	6434876, 10580009	Standard	NM_013376	NM_013376	NA	Approved	SEI1, TRIP-Br1	uc002ont.4	Q9UHV2		ENST00000357949.4:c.268G>A	19.37:g.40929186C>T	ENSP00000350633:p.Val90Met	NA	Q9BUE7	37	CCDS12557.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010296	0.35511	.	.	ENSG00000197019	ENST00000357949	T	0.45276	0.9	4.94	4.94	0.65067	.	0.786233	0.11520	N	0.555829	T	0.28499	0.0705	N	0.14661	0.345	0.27912	N	0.938579	P	0.44090	0.826	B	0.37833	0.259	T	0.09818	-1.0657	10	0.36615	T	0.2	-8.3617	15.0822	0.72122	0.0:1.0:0.0:0.0	.	90	Q9UHV2	SRTD1_HUMAN	M	90	ENSP00000350633:V90M	ENSP00000350633:V90M	V	-	1	0	SERTAD1	45621026	0.068000	0.21057	0.916000	0.36221	0.141000	0.21300	1.351000	0.34022	2.293000	0.77203	0.561000	0.74099	GTG	SERTAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462571.1		-	ENST00000357949.4	Missense_Mutation	SNP	19 : 40929186 - 40929186 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	126	20
PCDHA11	56138	broad.mit.edu	37	5	140249981	140249981	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140249981G>A	ENST00000398640.2	+	1	1293	c.1293G>A	c.(1291-1293)tcG>tcA	p.S431S	PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018902.3	NP_061725.1			protocadherin alpha 11	NA										breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGGGGTTCGCCTTCTCTGT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	143	140			NA	NA	5		NA											NA				140249981		2203	4300	6503	SO:0001819	synonymous_variant			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158	56138	56138		Cadherins / Protocadherins : Clustered	8665	other	complex locus constituent	KIAA0345-like 3, ortholog of mouse CNR7	606317		CNRS7	NA	10380929, 10662547	Standard	NM_018902	NM_018902	NA	Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1293G>A	5.37:g.140249981G>A		NA		37	CCDS47284.1																																																																																			PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372885.2		+	ENST00000398640.2	Silent	SNP	5 : 140249981 - 140249981 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1248	245
PDPN	10630	broad.mit.edu	37	1	13940894	13940894	+	Missense_Mutation	SNP	C	C	T	rs142964620		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:13940894C>T	ENST00000509009.1	+	5	499	c.455C>T	c.(454-456)tCg>tTg	p.S152L	PDPN_ENST00000294489.6_Missense_Mutation_p.S233L|PDPN_ENST00000513143.1_Missense_Mutation_p.S115L|PDPN_ENST00000475043.1_Missense_Mutation_p.S115L|PDPN_ENST00000376061.4_Missense_Mutation_p.S115L|PDPN_ENST00000487038.1_Missense_Mutation_p.S115L|PDPN_ENST00000376057.4_Missense_Mutation_p.S233L			Q86YL7	PDPN_HUMAN	podoplanin	157					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		CGAAAAATGTCGGGAAGGTAC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	LEU/SER,LEU/SER,LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	189	178	182		344,344,698,698	5.8	1	1	dbSNP_134	182	0,8600		0,0,4300	no	missense,missense,missense,missense	PDPN	NM_001006624.1,NM_001006625.1,NM_006474.4,NM_198389.2	145,145,145,145	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	115/121,115/119,233/239,233/237	13940894	1,13005	2203	4300	6503	SO:0001583	missense			AB127958, AY194238	CCDS30602.1, CCDS41266.1, CCDS44060.1, CCDS53270.1	1p36.21	2008-02-05			ENSG00000162493	ENSG00000162493	10630	10630			29602	protein-coding gene	gene with protein product	lung type I cell membrane associated glycoprotein	608863			NA	10393083, 9651190	Standard	NM_006474	NM_006474	NA	Approved	T1A-2, Gp38, aggrus, GP40, PA2.26	uc001avd.3	Q86YL7	OTTHUMG00000007912	ENST00000509009.1:c.455C>T	1.37:g.13940894C>T	ENSP00000422977:p.Ser152Leu	NA	A9Z1Y2|B2R6J8|O60836|O95128|Q7L375|Q8NBQ8|Q8NBR3	37		.	.	.	.	.	.	.	.	.	.	C	24.9	4.585070	0.86748	2.27E-4	0.0	ENSG00000162493	ENST00000294489;ENST00000376057;ENST00000510906;ENST00000509009;ENST00000376061;ENST00000513143;ENST00000487038;ENST00000475043	T;T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.81	5.81	0.92471	.	0.000000	0.49305	D	0.000146	T	0.63581	0.2523	M	0.66939	2.045	0.43250	D	0.995171	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;1.0	T	0.64931	-0.6291	10	0.87932	D	0	-28.3123	15.5833	0.76462	0.0:1.0:0.0:0.0	.	157;115;233;233	Q86YL7;E9PB68;Q86YL7-3;Q86YL7-4	PDPN_HUMAN;.;.;.	L	233;233;224;152;115;115;115;115	ENSP00000294489:S233L;ENSP00000365225:S233L;ENSP00000426302:S224L;ENSP00000422977:S152L;ENSP00000365229:S115L;ENSP00000425304:S115L;ENSP00000427537:S115L;ENSP00000426063:S115L	ENSP00000294489:S233L	S	+	2	0	PDPN	13813481	0.997000	0.39634	0.987000	0.45799	0.922000	0.55478	4.468000	0.60162	2.765000	0.95021	0.655000	0.94253	TCG	PDPN-009	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000367736.1		+	ENST00000509009.1	Missense_Mutation	SNP	1 : 13940894 - 13940894 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	521	95
DMXL2	23312	broad.mit.edu	37	15	51772901	51772901	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51772901C>T	ENST00000251076.5	-	24	6689	c.6402G>A	c.(6400-6402)ttG>ttA	p.L2134L	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Silent_p.L2134L|DMXL2_ENST00000449909.3_Silent_p.L1498L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2134						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GTTTGGCCTGCAATCTTCTTC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	129	131			NA	NA	15		NA											NA				51772901		2196	4293	6489	SO:0001819	synonymous_variant			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093	23312	23312		WD repeat domain containing	2938	protein-coding gene	gene with protein product	rabconnectin 3	612186			NA		Standard	NM_015263	NM_001174116	NA	Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.6402G>A	15.37:g.51772901C>T		NA	O94938	37	CCDS10141.1																																																																																			DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254671.2		-	ENST00000251076.5	Silent	SNP	15 : 51772901 - 51772901 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	773	140
ZNF420	147923	broad.mit.edu	37	19	37618753	37618753	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37618753T>C	ENST00000337995.3	+	5	1075	c.860T>C	c.(859-861)gTc>gCc	p.V287A	ZNF420_ENST00000304239.7_Missense_Mutation_p.V287A|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTAGGAAGGTCTTTACTCAG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	93	90			NA	NA	19		NA											NA				37618753		2203	4300	6503	SO:0001583	missense			AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050	147923	147923		Zinc fingers, C2H2-type, -	20649	protein-coding gene	gene with protein product					NA		Standard	NM_144689	NM_144689	NA	Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.860T>C	19.37:g.37618753T>C	ENSP00000338770:p.Val287Ala	NA	B2RDY6	37	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	T	2.275	-0.366154	0.05069	.	.	ENSG00000197050	ENST00000304239;ENST00000337995	T;T	0.16324	2.35;2.35	3.97	1.62	0.23740	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04497	0.0123	N	0.04275	-0.24	0.58432	D	0.99999	B	0.17268	0.021	B	0.15870	0.014	T	0.35748	-0.9776	9	0.02654	T	1	.	0.1891	0.00132	0.2272:0.1711:0.2344:0.3673	.	287	Q8TAQ5	ZN420_HUMAN	A	287	ENSP00000306102:V287A;ENSP00000338770:V287A	ENSP00000306102:V287A	V	+	2	0	ZNF420	42310593	0.000000	0.05858	0.998000	0.56505	0.970000	0.65996	-1.307000	0.02733	0.537000	0.28751	0.528000	0.53228	GTC	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109587.3		+	ENST00000337995.3	Missense_Mutation	SNP	19 : 37618753 - 37618753 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	568	31
DHX30	22907	broad.mit.edu	37	3	47882405	47882405	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47882405C>T	ENST00000348968.4	+	8	741	c.321C>T	c.(319-321)gaC>gaT	p.D107D	DHX30_ENST00000457607.1_Silent_p.D163D|DHX30_ENST00000446256.2_Silent_p.D96D|DHX30_ENST00000445061.1_Silent_p.D135D			Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	135	DRBM.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGTTGTTTGACGCAGCCAAAT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	0,4406		0,0,2203	61	56	58		288,405	1	1	3		58	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DHX30	NM_014966.3,NM_138615.2	,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,	96/1156,135/1195	47882405	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153	22907	22907		DEAH-boxes	16716	protein-coding gene	gene with protein product			DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30, DEAH (Asp-Glu-Ala-His) box polypeptide 30	DDX30	NA	10048485, 18022663	Standard	NM_138615	NM_138615	NA	Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000348968.4:c.321C>T	3.37:g.47882405C>T		NA	A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	37																																																																																				DHX30-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000346137.1		+	ENST00000348968.4	Silent	SNP	3 : 47882405 - 47882405 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	406	69
RGS19	10287	broad.mit.edu	37	20	62705215	62705215	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62705215G>A	ENST00000395042.1	-	6	911	c.645C>T	c.(643-645)tcC>tcT	p.S215S	RGS19_ENST00000332298.5_Silent_p.S215S	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	215	Interaction with GIPC.				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CCTAGGCCTCGGAGGAGGACT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	60	62			NA	NA	20		NA											NA				62705215		2203	4300	6503	SO:0001819	synonymous_variant			X91809	CCDS13555.1	20q13.33	2007-08-14	2007-08-14		ENSG00000171700	ENSG00000171700	10287	10287		Regulators of G-protein signaling	13735	protein-coding gene	gene with protein product		605071	regulator of G-protein signalling 19		NA	8524874	Standard	NM_005873	XM_005260183	NA	Approved	GAIP, RGSGAIP	uc002yib.3	P49795	OTTHUMG00000033024	ENST00000395042.1:c.645C>T	20.37:g.62705215G>A		NA	A8K216|E1P5G9|Q53XN0|Q8TD60	37	CCDS13555.1																																																																																			RGS19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080273.1		-	ENST00000395042.1	Silent	SNP	20 : 62705215 - 62705215 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	53
BTNL3	10917	broad.mit.edu	37	5	180432639	180432639	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180432639A>G	ENST00000342868.6	+	8	1352	c.1168A>G	c.(1168-1170)Aca>Gca	p.T390A		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	390	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TTTGTATTTCACATTCAATCC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	173	170			NA	NA	5		NA											NA				180432639		2084	4206	6290	SO:0001583	missense			AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903	10917	10917		Immunoglobulin superfamily / V-set domain containing, Butyrophilins	1143	protein-coding gene	gene with protein product	butyrophilin-like receptor	606192			NA	10429365	Standard	NM_197975	NM_197975	NA	Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.1168A>G	5.37:g.180432639A>G	ENSP00000341787:p.Thr390Ala	NA	Q496L7|Q9Y2C7	37	CCDS47358.1	.	.	.	.	.	.	.	.	.	.	A	6.949	0.544902	0.13312	.	.	ENSG00000168903	ENST00000342868;ENST00000376852	T	0.59906	0.23	3.0	-5.49	0.02584	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.31765	0.0807	N	0.02120	-0.675	0.09310	N	1	P;P	0.52463	0.953;0.798	P;B	0.54759	0.76;0.433	T	0.18023	-1.0350	9	0.07175	T	0.84	.	7.0513	0.25075	0.2235:0.0:0.6358:0.1407	.	356;390	C9JDC2;Q6UXE8	.;BTNL3_HUMAN	A	390;356	ENSP00000341787:T390A	ENSP00000341787:T390A	T	+	1	0	BTNL3	180365245	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	0.079000	0.14782	-1.249000	0.02500	0.164000	0.16699	ACA	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367176.2		+	ENST00000342868.6	Missense_Mutation	SNP	5 : 180432639 - 180432639 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	412	113
PSD4	23550	broad.mit.edu	37	2	113940800	113940800	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113940800G>A	ENST00000441564.3	+	2	936	c.767G>A	c.(766-768)tGc>tAc	p.C256Y	PSD4_ENST00000245796.6_Missense_Mutation_p.C256Y			Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	NA					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCGAGTCCTTGCTCAGAGAAC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	93	93			NA	NA	2		NA											NA				113940800		2203	4300	6503	SO:0001583	missense			U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637	23550	23550		Pleckstrin homology (PH) domain containing	19096	protein-coding gene	gene with protein product		614442			NA	12082148	Standard	NM_012455	XM_005263634	NA	Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000441564.3:c.767G>A	2.37:g.113940800G>A	ENSP00000413997:p.Cys256Tyr	NA	A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	37		.	.	.	.	.	.	.	.	.	.	G	11.39	1.623347	0.28889	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.09911	2.96;2.93	5.83	-3.81	0.04294	.	0.734366	0.13127	N	0.411733	T	0.05547	0.0146	L	0.29908	0.895	0.23361	N	0.997835	B;B	0.17667	0.023;0.013	B;B	0.20384	0.029;0.013	T	0.39187	-0.9626	9	.	.	.	.	2.9831	0.05960	0.2146:0.3227:0.3571:0.1056	.	256;256	Q8NDX1-2;Q8NDX1	.;PSD4_HUMAN	Y	256	ENSP00000245796:C256Y;ENSP00000413997:C256Y	.	C	+	2	0	PSD4	113657271	0.000000	0.05858	0.470000	0.27216	0.678000	0.39670	-1.117000	0.03283	-0.380000	0.07894	-0.964000	0.02622	TGC	PSD4-003	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000330791.3		+	ENST00000441564.3	Missense_Mutation	SNP	2 : 113940800 - 113940800 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	571	102
SLC22A13	9390	broad.mit.edu	37	3	38317516	38317516	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38317516G>A	ENST00000311856.4	+	7	1215	c.1166G>A	c.(1165-1167)cGc>cAc	p.R389H	SLC22A13_ENST00000450935.2_3'UTR	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	389						integral to plasma membrane	organic cation transmembrane transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		AGGTTTGGCCGCAAGTGGAGC	0.572		NA											G	2	9e-04	NA	NA	2184	0.0035	1	,	,	NA	3e-04	NA	NA	NA	9e-04	0.9768	EXOME	NA	NA	9e-04	SNP								NA				0													83	61	69			NA	NA	3		NA											NA				38317516		2203	4300	6503	SO:0001583	missense			AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940	9390	9390		Solute carriers	8494	protein-coding gene	gene with protein product		604047	organic cationic transporter-like 3, solute carrier family 22 (organic anion transporter), member 13	ORCTL3	NA	10072596, 18411268	Standard	NM_004256	NM_004256	NA	Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.1166G>A	3.37:g.38317516G>A	ENSP00000310241:p.Arg389His	NA	B2RCV9|Q8IYG1	37	CCDS2676.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	26.2	4.712305	0.89112	.	.	ENSG00000172940	ENST00000311856	D	0.84070	-1.8	5.16	5.16	0.70880	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.93762	0.8006	H	0.94385	3.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95267	0.8374	10	0.87932	D	0	.	18.0286	0.89276	0.0:0.0:1.0:0.0	.	389;389	Q9Y226-2;Q9Y226	.;S22AD_HUMAN	H	389	ENSP00000310241:R389H	ENSP00000310241:R389H	R	+	2	0	SLC22A13	38292520	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	5.849000	0.69465	2.582000	0.87167	0.655000	0.94253	CGC	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253746.2		+	ENST00000311856.4	Missense_Mutation	SNP	3 : 38317516 - 38317516 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	189	33
MED23	9439	broad.mit.edu	37	6	131923466	131923466	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131923466G>A	ENST00000368068.3	-	17	2166	c.1987C>T	c.(1987-1989)Ccg>Tcg	p.P663S	MED23_ENST00000368053.4_Missense_Mutation_p.P669S|MED23_ENST00000540546.1_Missense_Mutation_p.P669S|MED23_ENST00000368058.1_Missense_Mutation_p.P669S|MED23_ENST00000403834.3_Missense_Mutation_p.P669S|MED23_ENST00000545957.1_Missense_Mutation_p.P304S|MED23_ENST00000354577.4_Missense_Mutation_p.P669S|MED23_ENST00000539158.1_3'UTR|MED23_ENST00000368060.3_Missense_Mutation_p.P663S	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	663					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GTAAACTGCGGTTGTACCTCT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	123	129			NA	NA	6		NA											NA				131923466		2203	4300	6503	SO:0001583	missense			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282	9439	9439			2372	protein-coding gene	gene with protein product		605042	cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa	CRSP3	NA	9989412	Standard		NM_004830	NA	Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.1987C>T	6.37:g.131923466G>A	ENSP00000357047:p.Pro663Ser	NA	O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	37	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904542	0.72868	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000540350;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546	T;T;T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.82866	0.5130	L	0.46157	1.445	0.80722	D	1	D;D;D;D	0.67145	0.993;0.996;0.985;0.981	P;D;P;P	0.75484	0.863;0.986;0.817;0.721	T	0.81833	-0.0751	10	0.48119	T	0.1	-5.0311	19.8316	0.96638	0.0:0.0:1.0:0.0	.	304;669;663;669	B4E3G4;Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;.;MED23_HUMAN;.	S	669;663;669;663;52;669;304;669;669	ENSP00000346588:P669S;ENSP00000357047:P663S;ENSP00000384536:P669S;ENSP00000357039:P663S;ENSP00000357037:P669S;ENSP00000439977:P304S;ENSP00000357032:P669S;ENSP00000437818:P669S	ENSP00000346588:P669S	P	-	1	0	MED23	131965159	1.000000	0.71417	0.999000	0.59377	0.358000	0.29455	9.869000	0.99810	2.687000	0.91594	0.563000	0.77884	CCG	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042215.1		-	ENST00000368068.3	Missense_Mutation	SNP	6 : 131923466 - 131923466 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	383	41
TTN	7273	broad.mit.edu	37	2	179638990	179638990	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179638990C>A	ENST00000589042.1	-	30	7225	c.7001G>T	c.(7000-7002)gGa>gTa	p.G2334V	TTN_ENST00000591111.1_Missense_Mutation_p.G2334V|TTN_ENST00000359218.5_Missense_Mutation_p.G2288V|TTN_ENST00000460472.2_Missense_Mutation_p.G2288V|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G2334V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G2288V|TTN_ENST00000360870.5_Missense_Mutation_p.G2334V|TTN-AS1_ENST00000610005.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2051	Ig-like 12.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGTATTCTCCCTGGTCCTC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	139	143			NA	NA	2		NA											NA				179638990		2203	4300	6503	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.7001G>T	2.37:g.179638990C>A	ENSP00000467141:p.Gly2334Val	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551960	0.45487	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12	5.6	5.6	0.85130	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91375	0.7279	M	0.93106	3.38	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.92903	0.6341	9	0.87932	D	0	.	19.6137	0.95619	0.0:1.0:0.0:0.0	.	2288;2288;2288;2334;2334	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	V	2334;2288;2288;2288;2288;2334	ENSP00000343764:G2334V;ENSP00000434586:G2288V;ENSP00000340554:G2288V;ENSP00000352154:G2288V;ENSP00000354117:G2334V	ENSP00000340554:G2288V	G	-	2	0	TTN	179347235	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.650000	0.89964	0.557000	0.71058	GGA	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179638990 - 179638990 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	607	144
RNF24	11237	broad.mit.edu	37	20	3914846	3914846	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3914846C>T	ENST00000336095.6	-	6	562	c.311G>A	c.(310-312)tGc>tAc	p.C104Y	RNF24_ENST00000432261.2_Missense_Mutation_p.C125Y|RNF24_ENST00000358395.6_Missense_Mutation_p.C104Y|RNF24_ENST00000545616.2_Missense_Mutation_p.C125Y	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN	ring finger protein 24	NA						Golgi membrane|integral to membrane	zinc ion binding			large_intestine(1)|upper_aerodigestive_tract(1)	2						CTTAATAAGGCACCTGCAGAA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	56	58			NA	NA	20		NA											NA				3914846		2203	4300	6503	SO:0001583	missense			AF151081	CCDS13074.1, CCDS46577.1	20p13	2013-01-09			ENSG00000101236	ENSG00000101236	NA	11237		RING-type (C3HC4) zinc fingers	13779	protein-coding gene	gene with protein product		612489			NA		Standard		NM_007219	NA	Approved	G1L	uc002wki.2	Q9Y225	OTTHUMG00000031770	ENST00000336095.6:c.311G>A	20.37:g.3914846C>T	ENSP00000336753:p.Cys104Tyr	NA	D3DVZ2|D3DVZ3|Q9UMH1	37	CCDS13074.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500288	0.85176	.	.	ENSG00000101236	ENST00000336095;ENST00000358395;ENST00000545616;ENST00000432261	D;D;D;D	0.99701	-6.45;-6.45;-6.45;-6.45	5.79	5.79	0.91817	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.000000	0.85682	D	0.000000	D	0.99854	0.9932	H	0.97783	4.075	0.80722	D	1	D;D	0.89917	1.0;0.991	D;D	0.79108	0.992;0.99	D	0.96787	0.9579	10	0.87932	D	0	-10.1893	17.5288	0.87808	0.0:1.0:0.0:0.0	.	125;104	Q9Y225-2;Q9Y225	.;RNF24_HUMAN	Y	104;104;125;125	ENSP00000336753:C104Y;ENSP00000351166:C104Y;ENSP00000444711:C125Y;ENSP00000388550:C125Y	ENSP00000336753:C104Y	C	-	2	0	RNF24	3862846	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.057000	0.76669	2.735000	0.93741	0.591000	0.81541	TGC	RNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077795.2		-	ENST00000336095.6	Missense_Mutation	SNP	20 : 3914846 - 3914846 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	353	61
CLDN3	1365	broad.mit.edu	37	7	73184141	73184141	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73184141C>T	ENST00000395145.2	-	1	459	c.239G>A	c.(238-240)cGc>cAc	p.R80H		NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN	claudin 3	80					response to hypoxia	integral to plasma membrane|tight junction	structural molecule activity|transmembrane receptor activity			kidney(1)|lung(1)	2		Lung NSC(55;0.159)				GATGAGGGCGCGGGCCGCCTG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	36	39			NA	NA	7		NA											NA				73184141		2203	4300	6503	SO:0001583	missense			AF007189	CCDS5559.1	7q11	2008-07-18			ENSG00000165215	ENSG00000165215	1365	1365		Claudins	2045	protein-coding gene	gene with protein product	Clostridium perfringens enterotoxin receptor 2, ventral prostate.1-like protein, claudin-3, CPE-receptor 2	602910		C7orf1, CPETR2	NA	9441748, 9892664	Standard	NM_001306	NM_001306	NA	Approved	RVP1, CPE-R2, HRVP1	uc003tzg.4	O15551	OTTHUMG00000023424	ENST00000395145.2:c.239G>A	7.37:g.73184141C>T	ENSP00000378577:p.Arg80His	NA		37	CCDS5559.1	.	.	.	.	.	.	.	.	.	.	C	33	5.245394	0.95272	.	.	ENSG00000165215	ENST00000395145	D	0.89875	-2.58	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.96883	0.8982	H	0.98951	4.38	0.49582	D	0.999803	D	0.89917	1.0	D	0.97110	1.0	D	0.98556	1.0639	10	0.87932	D	0	.	15.4509	0.75271	0.0:1.0:0.0:0.0	.	80	O15551	CLD3_HUMAN	H	80	ENSP00000378577:R80H	ENSP00000378577:R80H	R	-	2	0	CLDN3	72822077	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.773000	0.85462	2.223000	0.72356	0.561000	0.74099	CGC	CLDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252310.1		-	ENST00000395145.2	Missense_Mutation	SNP	7 : 73184141 - 73184141 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	199	15
PNLDC1	154197	broad.mit.edu	37	6	160225117	160225117	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160225117C>T	ENST00000392167.3	+	5	403	c.369C>T	c.(367-369)aaC>aaT	p.N123N	PNLDC1_ENST00000610273.1_Silent_p.N112N|PNLDC1_ENST00000609334.1_3'UTR			Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	112						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TCAACTATAACAAGGTATGGC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	132	130			NA	NA	6		NA											NA				160225117		2203	4300	6503	SO:0001819	synonymous_variant			AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453	154197	154197			21185	protein-coding gene	gene with protein product					NA		Standard	NM_173516	NM_001271862	NA	Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000392167.3:c.369C>T	6.37:g.160225117C>T		NA	Q5TAP7|Q8N7X5	37																																																																																				PNLDC1-002	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000286401.2		+	ENST00000392167.3	Silent	SNP	6 : 160225117 - 160225117 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	813	39
ZFYVE16	9765	broad.mit.edu	37	5	79732719	79732719	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79732719G>T	ENST00000338008.5	+	3	395	c.215G>T	c.(214-216)aGc>aTc	p.S72I	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.S72I|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.S72I	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	72					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TCAGAAACAAGCTATGGAACA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(150;1452 1854 16018 17851 37292)							NA				0													71	69	70			NA	NA	5		NA											NA				79732719		2203	4300	6503	SO:0001583	missense			AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319	9765	9765		Zinc fingers, FYVE domain containing, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	20756	protein-coding gene	gene with protein product	endofin, protein phosphatase 1, regulatory subunit 69	608880			NA	11546807	Standard	NM_014733	NM_014733	NA	Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.215G>T	5.37:g.79732719G>T	ENSP00000337159:p.Ser72Ile	NA	O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	37	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	G	3.759	-0.049963	0.07407	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.36699	1.24;1.24;1.24	5.31	4.36	0.52297	.	0.596060	0.16043	N	0.232353	T	0.13927	0.0337	N	0.02539	-0.55	0.09310	N	0.999995	B;B	0.13145	0.007;0.001	B;B	0.06405	0.002;0.001	T	0.10520	-1.0626	10	0.25751	T	0.34	-0.7589	7.1536	0.25624	0.0:0.1395:0.5735:0.2871	.	72;72	Q7Z3T8-3;Q7Z3T8	.;ZFY16_HUMAN	I	72	ENSP00000337159:S72I;ENSP00000423663:S72I;ENSP00000426848:S72I	ENSP00000337159:S72I	S	+	2	0	ZFYVE16	79768475	0.090000	0.21635	0.945000	0.38365	0.222000	0.24845	1.340000	0.33896	2.489000	0.83994	0.467000	0.42956	AGC	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226982.2		+	ENST00000338008.5	Missense_Mutation	SNP	5 : 79732719 - 79732719 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	401	77
COX15	1355	broad.mit.edu	37	10	101487261	101487261	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101487261G>A	ENST00000370483.5	-	3	382	c.332C>T	c.(331-333)cCt>cTt	p.P111L	CUTC_ENST00000493385.1_Intron|COX15_ENST00000016171.5_Missense_Mutation_p.P111L	NM_004376.5|NM_078470.4	NP_004367.2|NP_510870.1	Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	111					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		TTGGCTTGTAGGTGGCTTCAT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													189	188	188			NA	NA	10		NA											NA				101487261		2203	4300	6503	SO:0001583	missense			AF044323	CCDS7481.1, CCDS7482.1	10q24	2014-09-17	2012-10-15		ENSG00000014919	ENSG00000014919	1355	1355		Mitochondrial respiratory chain complex assembly factors	2263	protein-coding gene	gene with protein product		603646	COX15 (yeast) homolog, cytochrome c oxidase assembly protein, COX15 homolog, cytochrome c oxidase assembly protein (yeast)		NA	9878253	Standard	NP_510870	NM_078470	NA	Approved		uc001kqb.4	Q7KZN9	OTTHUMG00000018893	ENST00000370483.5:c.332C>T	10.37:g.101487261G>A	ENSP00000359514:p.Pro111Leu	NA	A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0	37	CCDS7481.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316166	0.81469	.	.	ENSG00000014919	ENST00000370483;ENST00000016171	D;D	0.87809	-2.3;-2.3	4.49	3.58	0.41010	Peptidase cysteine/serine, trypsin-like (1);	0.000000	0.85682	D	0.000000	D	0.95698	0.8601	H	0.97962	4.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96657	0.9486	10	0.87932	D	0	-7.3348	13.0498	0.58948	0.0787:0.0:0.9213:0.0	.	111;111	Q7KZN9-2;Q7KZN9	.;COX15_HUMAN	L	111	ENSP00000359514:P111L;ENSP00000016171:P111L	ENSP00000016171:P111L	P	-	2	0	COX15	101477251	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.217000	0.77982	1.259000	0.44117	0.563000	0.77884	CCT	COX15-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049819.1		-	ENST00000370483.5	Missense_Mutation	SNP	10 : 101487261 - 101487261 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	540	22
BCKDHB	594	broad.mit.edu	37	6	80912929	80912929	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:80912929G>T	ENST00000320393.6	+	8	998	c.951G>T	c.(949-951)aaG>aaT	p.K317N	BCKDHB_ENST00000356489.5_Splice_Site_p.K317N|BCKDHB_ENST00000545529.1_3'UTR	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	317					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		CAATTTGTAAGGTATGAATAT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	115	115			NA	NA	6		NA											NA				80912929		2203	4300	6503	SO:0001630	splice_region_variant			M55575	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123	594	594			987	protein-coding gene	gene with protein product	maple syrup urine disease	248611			NA		Standard	NM_000056	NM_183050	NA	Approved		uc003pje.2	P21953	OTTHUMG00000016430	ENST00000320393.6:c.951+1G>T	6.37:g.80912929G>T		NA		37	CCDS4994.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.743814	0.30865	.	.	ENSG00000083123	ENST00000320393;ENST00000356489;ENST00000541767	D;D	0.91295	-2.82;-2.82	5.92	5.06	0.68205	Transketolase, C-terminal (1);Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II (1);Transketolase-like, C-terminal (1);	0.043164	0.85682	D	0.000000	T	0.72787	0.3504	N	0.20328	0.56	0.80722	D	1	B	0.12013	0.005	B	0.14578	0.011	T	0.69383	-0.5160	10	0.25751	T	0.34	-18.8136	11.0312	0.47774	0.0849:0.0:0.9151:0.0	.	317	P21953	ODBB_HUMAN	N	317;317;247	ENSP00000318351:K317N;ENSP00000348880:K317N	ENSP00000318351:K317N	K	+	3	2	BCKDHB	80969648	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	7.117000	0.77129	1.518000	0.48934	-0.136000	0.14681	AAG	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043911.2	Missense_Mutation	+	ENST00000320393.6	Splice_Site	SNP	6 : 80912929 - 80912929 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	381	66
PCDHB5	26167	broad.mit.edu	37	5	140517107	140517107	+	Silent	SNP	G	G	A	rs61745780		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140517107G>A	ENST00000231134.5	+	1	2308	c.2091G>A	c.(2089-2091)tcG>tcA	p.S697S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	697					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCGGTGTCGTCGCTCTTCC	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001819	synonymous_variant			AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209	26167	26167		Cadherins / Protocadherins : Clustered	8690	other	protocadherin		606331			NA	10380929	Standard	NM_015669	NM_015669	NA	Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.2091G>A	5.37:g.140517107G>A		NA	Q549F4|Q9UFU9	37	CCDS4247.1																																																																																			PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251811.1		+	ENST00000231134.5	Silent	SNP	5 : 140517107 - 140517107 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1221	47
KLK7	5650	broad.mit.edu	37	19	51485163	51485163	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51485163A>G	ENST00000391807.1	-	3	182	c.81T>C	c.(79-81)ggT>ggC	p.G27G	CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000336317.4_Intron|KLK7_ENST00000595820.1_Silent_p.G27G|KLK7_ENST00000597707.1_5'UTR	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	27					epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		TAATCTTGTCACCCTGGGCTG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	50	52			NA	NA	19		NA											NA				51485163		2203	4300	6503	SO:0001819	synonymous_variant			L33404	CCDS12812.1, CCDS59414.1	19q13.33	2011-09-07	2006-10-27			ENSG00000169035	5650	5650		Kallikreins, Serine peptidases / Serine peptidases	6368	protein-coding gene	gene with protein product		604438	kallikrein 7 (chymotryptic, stratum corneum)	PRSS6	NA	8034709, 16800724, 16800723	Standard	NM_005046	NM_005046	NA	Approved	SCCE	uc021uyj.1	P49862		ENST00000391807.1:c.81T>C	19.37:g.51485163A>G		NA	Q8N5N9|Q8NFV7	37	CCDS12812.1																																																																																			KLK7-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464344.1		-	ENST00000391807.1	Silent	SNP	19 : 51485163 - 51485163 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	103	7
NFE2L1	4779	broad.mit.edu	37	17	46134725	46134725	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46134725G>T	ENST00000361665.3	+	5	1404	c.800G>T	c.(799-801)aGc>aTc	p.S267I	NFE2L1_ENST00000583378.1_Missense_Mutation_p.S79I|NFE2L1_ENST00000585291.1_Missense_Mutation_p.S248I|NFE2L1_ENST00000357480.5_Missense_Mutation_p.S248I|NFE2L1_ENST00000362042.3_Missense_Mutation_p.S278I|NFE2L1_ENST00000536222.1_Missense_Mutation_p.S122I|NFE2L1_ENST00000582155.1_Missense_Mutation_p.S90I			Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	278	Asp/Glu-rich (acidic).				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GACATTTCCAGCATAACAGAA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	157	161			NA	NA	17		NA											NA				46134725		2203	4300	6503	SO:0001583	missense			AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641	4779	4779		basic leucine zipper proteins	7781	protein-coding gene	gene with protein product		163260	nuclear factor (erythroid-derived 2)-like 1	TCF11	NA	8248256, 9501099	Standard	NM_003204	NM_003204	NA	Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000361665.3:c.800G>T	17.37:g.46134725G>T	ENSP00000355190:p.Ser267Ile	NA	D3DTU3|D3DTU5|Q12877|Q96FN6	37		.	.	.	.	.	.	.	.	.	.	G	14.98	2.697822	0.48307	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480;ENST00000536222	T;T	0.20200	2.36;2.09	5.64	4.66	0.58398	.	0.551536	0.22298	N	0.061915	T	0.20861	0.0502	L	0.54323	1.7	0.35028	D	0.758518	B;P;P;B	0.42409	0.002;0.779;0.773;0.0	B;B;B;B	0.37304	0.006;0.125;0.246;0.002	T	0.25398	-1.0133	10	0.44086	T	0.13	-19.977	13.2897	0.60264	0.0778:0.0:0.9222:0.0	.	122;90;248;278	F5H1B7;B4DYE1;Q14494-2;Q14494	.;.;.;NF2L1_HUMAN	I	297;278;248;122	ENSP00000350072:S248I;ENSP00000445811:S122I	ENSP00000350072:S248I	S	+	2	0	NFE2L1	43489724	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	1.054000	0.30455	2.820000	0.97059	0.650000	0.86243	AGC	NFE2L1-006	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000443024.1		+	ENST00000361665.3	Missense_Mutation	SNP	17 : 46134725 - 46134725 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	865	134
HIST1H2AE	3012	broad.mit.edu	37	6	26217493	26217493	+	Silent	SNP	T	T	G	rs143862810		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26217493T>G	ENST00000303910.2	+	1	329	c.291T>G	c.(289-291)ctT>ctG	p.L97L		NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	97					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				TAAATAAGCTTCTAGGTCGCG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	77	78			NA	NA	6		NA											NA				26217493		2203	4300	6503	SO:0001819	synonymous_variant			M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075	3012	3012		Histones / Replication-dependent	4724	protein-coding gene	gene with protein product		602786	H2A histone family, member A, histone 1, H2ae	H2AFA	NA	9119399, 1916825, 12408966	Standard	NM_021052	NM_021052	NA	Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.291T>G	6.37:g.26217493T>G		NA	P28001|Q76P63	37	CCDS4595.1																																																																																			HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040103.1		+	ENST00000303910.2	Silent	SNP	6 : 26217493 - 26217493 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	480	88
HTR1A	3350	broad.mit.edu	37	5	63256774	63256774	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:63256774G>A	ENST00000323865.3	-	1	1006	c.773C>T	c.(772-774)tCg>tTg	p.S258L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	258					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	p.S258L(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CCTGCTCCCCGACTCTCCATT	0.657		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)											58	56	57			NA	NA	5		NA											NA				63256774		2203	4299	6502	SO:0001583	missense			AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394	3350	3350		5-HT (serotonin) receptors, GPCR / Class A : 5-HT (serotonin) receptors, GPCR only	5286	protein-coding gene	gene with protein product		109760	5-hydroxytryptamine (serotonin) receptor 1A	ADRB2RL1, ADRBRL1	NA	2591972, 12969265	Standard	NM_000524	NM_000524	NA	Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.773C>T	5.37:g.63256774G>A	ENSP00000316244:p.Ser258Leu	NA	Q6LAE7	37	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	G	0.413	-0.912302	0.02415	.	.	ENSG00000178394	ENST00000323865	T	0.63417	-0.04	5.17	2.44	0.29823	GPCR, rhodopsin-like superfamily (1);	0.421461	0.25566	N	0.029793	T	0.42154	0.1190	N	0.25245	0.725	0.22541	N	0.999003	B	0.02656	0.0	B	0.04013	0.001	T	0.19582	-1.0301	10	0.26408	T	0.33	.	7.3854	0.26880	0.1445:0.0:0.72:0.1355	.	258	P08908	5HT1A_HUMAN	L	258	ENSP00000316244:S258L	ENSP00000316244:S258L	S	-	2	0	HTR1A	63292530	0.553000	0.26513	0.001000	0.08648	0.010000	0.07245	2.917000	0.48821	0.349000	0.23975	0.655000	0.94253	TCG	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368397.1		-	ENST00000323865.3	Missense_Mutation	SNP	5 : 63256774 - 63256774 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	643	116
SULT2A1	6822	broad.mit.edu	37	19	48382317	48382317	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48382317T>C	ENST00000222002.3	-	4	682	c.543A>G	c.(541-543)ttA>ttG	p.L181L		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	181					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		CATAACTCAGTAACAGGAAGT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													201	197	198			NA	NA	19		NA											NA				48382317		2203	4300	6503	SO:0001819	synonymous_variant			X70222	CCDS12707.1	19q13.3	2014-05-21			ENSG00000105398	ENSG00000105398	6822	6822	2.8.2.2	Sulfotransferases, cytosolic	11458	protein-coding gene	gene with protein product		125263		STD	NA	1588921, 7736787	Standard	NM_003167	NM_003167	NA	Approved	DHEA-ST	uc002phr.2	Q06520	OTTHUMG00000162469	ENST00000222002.3:c.543A>G	19.37:g.48382317T>C		NA		37	CCDS12707.1																																																																																			SULT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369044.1		-	ENST00000222002.3	Silent	SNP	19 : 48382317 - 48382317 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	949	174
TDRD9	122402	broad.mit.edu	37	14	104473017	104473017	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:104473017G>A	ENST00000409874.4	+	17	1962	c.1914G>A	c.(1912-1914)atG>atA	p.M638I	TDRD9_ENST00000339063.5_Missense_Mutation_p.M638I	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	638					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TTTTTGCAATGCCTTTCCGGC	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	59	58			NA	NA	14		NA											NA				104473017		2203	4299	6502	SO:0001583	missense			AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414	122402	122402		Tudor domain containing	20122	protein-coding gene	gene with protein product			chromosome 14 open reading frame 75	C14orf75	NA		Standard	NM_153046	NM_153046	NA	Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.1914G>A	14.37:g.104473017G>A	ENSP00000387303:p.Met638Ile	NA	A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	37	CCDS9987.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.64|11.64	1.699403|1.699403	0.30142|0.30142	.|.	.|.	ENSG00000156414|ENSG00000156414	ENST00000557332|ENST00000409874;ENST00000339063	.|T;T	.|0.02446	.|4.29;4.29	5.48|5.48	4.59|4.59	0.56863|0.56863	.|Helicase-associated domain (2);	.|0.184337	.|0.47093	.|N	.|0.000243	T|T	0.02047|0.02047	0.0064|0.0064	N|N	0.14661|0.14661	0.345|0.345	0.46798|0.46798	D|D	0.9992|0.9992	.|B;B	.|0.23058	.|0.079;0.002	.|B;B	.|0.20577	.|0.021;0.03	T|T	0.56798|0.56798	-0.7919|-0.7919	5|10	.|0.34782	.|T	.|0.22	.|.	7.8697|7.8697	0.29558|0.29558	0.1432:0.0:0.7243:0.1325|0.1432:0.0:0.7243:0.1325	.|.	.|638;638	.|Q8NDG6-2;Q8NDG6	.|.;TDRD9_HUMAN	T|I	365|638	.|ENSP00000387303:M638I;ENSP00000343545:M638I	.|ENSP00000343545:M638I	A|M	+|+	1|3	0|0	TDRD9|TDRD9	103542770|103542770	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	2.605000|2.605000	0.46283|0.46283	1.310000|1.310000	0.45006|0.45006	0.563000|0.563000	0.77884|0.77884	GCC|ATG	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328325.3		+	ENST00000409874.4	Missense_Mutation	SNP	14 : 104473017 - 104473017 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	191	26
RMDN3	55177	broad.mit.edu	37	15	41029390	41029390	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41029390G>A	ENST00000260385.6	-	11	2358	c.1291C>T	c.(1291-1293)Cta>Tta	p.L431L	RMDN3_ENST00000338376.3_Silent_p.L431L					regulator of microtubule dynamics 3	NA											NA						TTTTTCCCTAGTTCTCTGTAG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													197	196	197			NA	NA	15		NA											NA				41029390		2203	4300	6503	SO:0001819	synonymous_variant			AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824	55177	55177			25550	protein-coding gene	gene with protein product		611873	family with sequence similarity 82, member A2	FAM82C, FAM82A2	NA	12975309	Standard	NM_018145	XM_005254531	NA	Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.1291C>T	15.37:g.41029390G>A		NA		37	CCDS10063.1																																																																																			RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252357.1		-	ENST00000260385.6	Silent	SNP	15 : 41029390 - 41029390 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1316	234
SPATA31A6	389730	broad.mit.edu	37	9	43627680	43627680	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:43627680G>A	ENST00000332857.6	-	4	1035	c.1007C>T	c.(1006-1008)gCc>gTc	p.A336V		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6	NA											NA						GTTGACCTTGGCTGTTTCTGT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													1	1	1			NA	NA	9		NA											NA				43627680		24	140	164	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.1007C>T	9.37:g.43627680G>A	ENSP00000329825:p.Ala336Val	NA		37	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.892611	0.00522	.	.	ENSG00000185775	ENST00000332857	T	0.03330	3.97	1.79	-0.573	0.11742	.	1.722080	0.03443	N	0.209565	T	0.02649	0.0080	N	0.17594	0.5	0.09310	N	1	B	0.17852	0.024	B	0.17722	0.019	T	0.44636	-0.9315	10	0.17369	T	0.5	0.0186	4.0945	0.09985	0.5815:0.0:0.4185:0.0	.	336	Q5VVP1	F75A6_HUMAN	V	336	ENSP00000329825:A336V	ENSP00000329825:A336V	A	-	2	0	FAM75A6	43567676	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.534000	0.06150	-0.139000	0.11414	0.298000	0.19748	GCC	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000036987.1		-	ENST00000332857.6	Missense_Mutation	SNP	9 : 43627680 - 43627680 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	561	40
ANKRD52	283373	broad.mit.edu	37	12	56647941	56647941	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56647941G>A	ENST00000267116.7	-	8	937	c.816C>T	c.(814-816)ggC>ggT	p.G272G		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	272							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GTGGCGTGAAGCCCTTGTCAT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	134	128			NA	NA	12		NA											NA				56647941		2090	4238	6328	SO:0001819	synonymous_variant			AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645	283373	283373		Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits, Ankyrin repeat domain containing	26614	protein-coding gene	gene with protein product	protein phosphatase 6 ankyrin repeat subunit C				NA		Standard	NM_173595	NM_173595	NA	Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.816C>T	12.37:g.56647941G>A		NA	A6NE79|B1Q2K2	37	CCDS44920.1																																																																																			ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408539.1		-	ENST00000267116.7	Silent	SNP	12 : 56647941 - 56647941 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	666	130
SPATA22	84690	broad.mit.edu	37	17	3346538	3346538	+	Missense_Mutation	SNP	C	C	T	rs139946072		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3346538C>T	ENST00000573128.1	-	8	1313	c.830G>A	c.(829-831)gGc>gAc	p.G277D	SPATA22_ENST00000541913.1_Missense_Mutation_p.G261D|SPATA22_ENST00000268981.5_Intron|SPATA22_ENST00000397168.3_Missense_Mutation_p.G277D|SPATA22_ENST00000355380.4_Missense_Mutation_p.G234D|SPATA22_ENST00000572969.1_Missense_Mutation_p.G277D|SPATA22_ENST00000575375.1_Missense_Mutation_p.G277D			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	277										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						ATAATATGGGCCAGGTGTAAC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ASP/GLY,ASP/GLY,ASP/GLY,ASP/GLY,,ASP/GLY	0,4404		0,0,2202	66	59	62		830,701,830,830,,830	5.3	0.7	17	dbSNP_134	62	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense,missense,intron,missense	SPATA22	NM_001170695.1,NM_001170696.1,NM_001170697.1,NM_001170698.1,NM_001170699.1,NM_032598.4	94,94,94,94,,94	0,1,6500	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,,probably-damaging	277/364,234/321,277/364,277/364,,277/364	3346538	1,13001	2202	4299	6501	SO:0001583	missense			AY035868	CCDS11027.1, CCDS54066.1, CCDS54067.1	17p13.3	2005-12-19					84690	84690			30705	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_032598	NM_001170696	NA	Approved	NYD-SP20	uc002fvn.3	Q8NHS9		ENST00000573128.1:c.830G>A	17.37:g.3346538C>T	ENSP00000459580:p.Gly277Asp	NA	D3DTI9|Q969H3|Q96JT4	37	CCDS11027.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268539	0.80469	0.0	1.16E-4	ENSG00000141255	ENST00000355380;ENST00000397168;ENST00000541913	T;T;T	0.80033	-1.33;-1.33;-1.33	5.32	5.32	0.75619	.	0.074384	0.49916	D	0.000135	D	0.84524	0.5491	L	0.27053	0.805	0.41576	D	0.988713	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.994;1.0	D	0.86378	0.1727	10	0.66056	D	0.02	-10.3436	18.3541	0.90351	0.0:1.0:0.0:0.0	.	261;234;277	F5GWB9;Q8NHS9-2;Q8NHS9	.;.;SPT22_HUMAN	D	234;277;261	ENSP00000347541:G234D;ENSP00000380354:G277D;ENSP00000441920:G261D	ENSP00000347541:G234D	G	-	2	0	SPATA22	3293288	0.999000	0.42202	0.684000	0.30055	0.882000	0.50991	4.425000	0.59875	2.660000	0.90430	0.557000	0.71058	GGC	SPATA22-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438067.2		-	ENST00000573128.1	Missense_Mutation	SNP	17 : 3346538 - 3346538 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	165	24
NUP210L	91181	broad.mit.edu	37	1	153998021	153998021	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153998021G>A	ENST00000368559.3	-	30	4190	c.4119C>T	c.(4117-4119)gtC>gtT	p.V1373V	NUP210L_ENST00000271854.3_Silent_p.V1373V|NUP210L_ENST00000368553.1_Silent_p.V306V	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1373						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AACTCACCTGGACCCCAGTTA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	132	134			NA	NA	1		NA											NA				153998021		1825	4081	5906	SO:0001819	synonymous_variant			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552	91181	91181			29915	protein-coding gene	gene with protein product					NA		Standard	NM_207308	NM_207308	NA	Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.4119C>T	1.37:g.153998021G>A		NA	Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6	37	CCDS41399.1																																																																																			NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087270.3		-	ENST00000368559.3	Silent	SNP	1 : 153998021 - 153998021 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	825	122
DPY19L3	147991	broad.mit.edu	37	19	32954831	32954831	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:32954831G>A	ENST00000342179.5	+	14	1717	c.1502G>A	c.(1501-1503)aGc>aAc	p.S501N	DPY19L3_ENST00000392250.2_Missense_Mutation_p.S501N|DPY19L3_ENST00000590651.1_3'UTR|DPY19L3_ENST00000586987.1_Missense_Mutation_p.S501N	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	501						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					GGCCTATGTAGCCCTGAAATA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													247	220	230			NA	NA	19		NA											NA				32954831		2203	4300	6503	SO:0001583	missense				CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904	147991	147991			27120	protein-coding gene	gene with protein product		613894			NA		Standard	NM_207325	NM_207325	NA	Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.1502G>A	19.37:g.32954831G>A	ENSP00000344937:p.Ser501Asn	NA	Q68DC7|Q6ZTB7|Q6ZTS2	37	CCDS12422.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.905790	0.72868	.	.	ENSG00000178904	ENST00000392250;ENST00000319326;ENST00000342179	T;T	0.61980	0.06;0.06	4.93	4.93	0.64822	.	0.101993	0.64402	D	0.000001	T	0.67192	0.2867	M	0.67569	2.06	0.41464	D	0.988064	B	0.32324	0.364	B	0.38106	0.265	T	0.71741	-0.4501	10	0.72032	D	0.01	-17.6341	18.1687	0.89737	0.0:0.0:1.0:0.0	.	501	Q6ZPD9	D19L3_HUMAN	N	501	ENSP00000376081:S501N;ENSP00000344937:S501N	ENSP00000315672:S501N	S	+	2	0	DPY19L3	37646671	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	8.503000	0.90509	2.284000	0.76573	0.557000	0.71058	AGC	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450311.1		+	ENST00000342179.5	Missense_Mutation	SNP	19 : 32954831 - 32954831 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	937	174
DDX41	51428	broad.mit.edu	37	5	176940011	176940011	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176940011C>T	ENST00000507955.1	-	12	1826		c.e12+1			NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	NA					apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding				NA	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GCTGCACTCACAGGCGGGGGT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	97	94			NA	NA	5		NA											NA				176940011		2203	4300	6503	SO:0001630	splice_region_variant			AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258	51428	51428		DEAD-boxes	18674	protein-coding gene	gene with protein product		608170			NA	10607561	Standard	NM_016222	NM_016222	NA	Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.1302+1G>A	5.37:g.176940011C>T		NA	B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	37	CCDS4427.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839580	0.71488	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	.	.	.	5.28	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1173	0.65161	0.0:0.9279:0.0:0.0721	.	.	.	.	.	-1	.	.	.	-	.	.	DDX41	176872617	1.000000	0.71417	0.896000	0.35187	0.367000	0.29736	5.691000	0.68249	1.455000	0.47813	0.655000	0.94253	.	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253432.2	Intron	-	ENST00000507955.1	Splice_Site	SNP	5 : 176940011 - 176940011 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1167	88
RBBP6	5930	broad.mit.edu	37	16	24560342	24560342	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24560342C>A	ENST00000452655.2	+	3	474	c.343C>A	c.(343-345)Ctt>Att	p.L115I	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000319715.4_Intron|RBBP6_ENST00000348022.2_Intron	NM_032626.5	NP_116015.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	0					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CTACACATTGCTTTTACCTTT	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	78	81			NA	NA	16		NA											NA				24560342		2196	4298	6494	SO:0001583	missense				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257	5930	5930			9889	protein-coding gene	gene with protein product	proliferation potential-related protein	600938	retinoblastoma-binding protein 6		NA	8595913, 16396680	Standard	NM_006910	NM_006910	NA	Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000452655.2:c.343C>A	16.37:g.24560342C>A	ENSP00000390537:p.Leu115Ile	NA	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	37	CCDS45444.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.358671	0.24598	.	.	ENSG00000122257	ENST00000452655	T	0.48522	0.81	5.25	3.29	0.37713	.	.	.	.	.	T	0.28995	0.0720	.	.	.	0.80722	D	1	B	0.12013	0.005	B	0.04013	0.001	T	0.05818	-1.0862	7	.	.	.	.	5.6324	0.17518	0.0:0.5754:0.1338:0.2908	.	115	Q7Z6E9-3	.	I	115	ENSP00000390537:L115I	.	L	+	1	0	RBBP6	24467843	0.968000	0.33430	1.000000	0.80357	0.997000	0.91878	0.052000	0.14163	0.714000	0.32081	0.585000	0.79938	CTT	RBBP6-003	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421166.1		+	ENST00000452655.2	Missense_Mutation	SNP	16 : 24560342 - 24560342 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	73	20
POSTN	10631	broad.mit.edu	37	13	38160387	38160387	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38160387C>T	ENST00000379747.4	-	7	901	c.784G>A	c.(784-786)Gcc>Acc	p.A262T	POSTN_ENST00000379742.4_Missense_Mutation_p.A262T|POSTN_ENST00000379743.4_Missense_Mutation_p.A262T|POSTN_ENST00000541179.1_Missense_Mutation_p.A262T|POSTN_ENST00000379749.4_Missense_Mutation_p.A262T|POSTN_ENST00000541481.1_Missense_Mutation_p.A262T	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	262	FAS1 2.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CTTCCAAGGGCCTCCAATATG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	92	97			NA	NA	13		NA											NA				38160387		2203	4300	6503	SO:0001583	missense			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110	10631	10631			16953	protein-coding gene	gene with protein product		608777			NA	8363580, 12235007	Standard	NM_006475	NM_006475	NA	Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.784G>A	13.37:g.38160387C>T	ENSP00000369071:p.Ala262Thr	NA	Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	37	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	C	1.706	-0.500245	0.04291	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481;ENST00000538347	D;D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54;-2.54	5.67	-11.3	0.00108	FAS1 domain (4);	0.942284	0.09131	N	0.844389	T	0.55705	0.1937	N	0.00602	-1.34	0.09310	N	1	B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001;0.0;0.0	B;B;B;B;B;B;B	0.12156	0.002;0.007;0.002;0.002;0.004;0.001;0.002	T	0.52601	-0.8554	10	0.02654	T	1	.	7.6951	0.28590	0.4374:0.1388:0.0:0.4238	.	262;262;262;262;262;262;262	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	T	262;262;262;262;262;262;179	ENSP00000437959:A262T;ENSP00000369073:A262T;ENSP00000369071:A262T;ENSP00000369067:A262T;ENSP00000369066:A262T;ENSP00000437953:A262T	ENSP00000369066:A262T	A	-	1	0	POSTN	37058387	0.000000	0.05858	0.017000	0.16124	0.496000	0.33645	-0.702000	0.05069	-3.501000	0.00151	-0.169000	0.13324	GCC	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044566.2		-	ENST00000379747.4	Missense_Mutation	SNP	13 : 38160387 - 38160387 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	63
EFEMP1	2202	broad.mit.edu	37	2	56098049	56098049	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56098049G>A	ENST00000394555.2	-	10	1561	c.1126C>T	c.(1126-1128)Cga>Tga	p.R376*	EFEMP1_ENST00000424836.2_Splice_Site_p.R238*|EFEMP1_ENST00000394554.1_Splice_Site_p.R376*|EFEMP1_ENST00000355426.3_Splice_Site_p.R376*	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	376	EGF-like 6; calcium-binding (Potential).|Mediates interaction with TIMP3.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAAACACATCGGCTGCAGAGA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(92;934 1319 7714 28760 40110)							NA				0													74	77	76			NA	NA	2		NA											NA				56098049		2203	4300	6503	SO:0001630	splice_region_variant			U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380	2202	2202		Fibulins	3218	protein-coding gene	gene with protein product	fibulin 3	601548	fibrillin-like, EGF-containing fibulin-like extracellular matrix protein 1	DHRD, FBNL	NA	8812496, 7799918	Standard		NM_001039348	NA	Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.1125-1C>T	2.37:g.56098049G>A		NA	A8K3I4|D6W5D2|Q541U7	37	CCDS1857.1	.	.	.	.	.	.	.	.	.	.	G	38	6.821538	0.97865	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000405693;ENST00000424836;ENST00000355426	.	.	.	5.65	5.65	0.86999	.	0.000000	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0965	0.97849	0.0:0.0:1.0:0.0	.	.	.	.	X	376;376;232;238;376	.	ENSP00000347596:R376X	R	-	1	2	EFEMP1	55951553	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.939000	0.87685	2.824000	0.97209	0.655000	0.94253	CGA	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251491.2	Nonsense_Mutation	-	ENST00000394555.2	Splice_Site	SNP	2 : 56098049 - 56098049 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	109
TCHHL1	126637	broad.mit.edu	37	1	152060019	152060019	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152060019G>T	ENST00000368806.1	-	3	203	c.139C>A	c.(139-141)Ccc>Acc	p.P47T		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	47							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AGGACACAGGGCTGCATGAAA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	36	36			NA	NA	1		NA											NA				152060019		2202	4289	6491	SO:0001630	splice_region_variant				CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898	126637	126637		S100 calcium binding proteins	31796	protein-coding gene	gene with protein product			S100 calcium binding protein A17	S100A17, THHL1	NA		Standard	XM_060104	NM_001008536	NA	Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.139-1C>A	1.37:g.152060019G>T		NA	B2RPK8|Q5VTJ9	37	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	13.48	2.249639	0.39797	.	.	ENSG00000182898	ENST00000368806	T	0.13196	2.61	4.87	4.87	0.63330	EF-hand-like domain (1);	0.000000	0.38897	N	0.001526	T	0.25306	0.0615	M	0.68317	2.08	0.36272	D	0.855259	D	0.89917	1.0	D	0.97110	1.0	T	0.01133	-1.1441	10	0.52906	T	0.07	-12.1731	13.3662	0.60684	0.0:0.0:1.0:0.0	.	47	Q5QJ38	TCHL1_HUMAN	T	47	ENSP00000357796:P47T	ENSP00000357796:P47T	P	-	1	0	TCHHL1	150326643	1.000000	0.71417	0.998000	0.56505	0.058000	0.15608	2.939000	0.48995	2.521000	0.84997	0.453000	0.30009	CCC	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000036638.2	Missense_Mutation	-	ENST00000368806.1	Splice_Site	SNP	1 : 152060019 - 152060019 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	40
ZNF135	7694	broad.mit.edu	37	19	58579766	58579766	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58579766C>A	ENST00000506786.1	+	5	2342	c.1788C>A	c.(1786-1788)gaC>gaA	p.D596E	ZNF135_ENST00000439855.2_Missense_Mutation_p.D638E|ZNF135_ENST00000511556.1_Missense_Mutation_p.D650E|ZNF135_ENST00000401053.4_Missense_Mutation_p.D662E|ZNF135_ENST00000313434.5_Missense_Mutation_p.D638E|ZNF135_ENST00000359978.6_Intron			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	650					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CATGCAGGGACTGTGGAAAGG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	83	87			NA	NA	19		NA											NA				58579766		2203	4300	6503	SO:0001583	missense			U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293	7694	7694		Zinc fingers, C2H2-type, -	12919	protein-coding gene	gene with protein product		604077	zinc finger protein 61, zinc finger protein 135 (clone pHZ-17)	ZNF61, ZNF78L1	NA	7557990, 1505991	Standard	NM_003436	NM_003436	NA	Approved	pHZ-17	uc002qrg.3	P52742		ENST00000506786.1:c.1788C>A	19.37:g.58579766C>A	ENSP00000427691:p.Asp596Glu	NA		37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.001|0.001	-3.152853|-3.152853	0.00028|0.00028	.|.	.|.	ENSG00000176293|ENSG00000176293	ENST00000401053;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786|ENST00000504540;ENST00000391699	T;T;T;T;T|.	0.07327|.	3.2;3.2;3.2;3.2;3.2|.	3.37|3.37	-0.525|-0.525	0.11917|0.11917	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.12263|0.12263	0.0298|0.0298	N|N	0.02674|0.02674	-0.535|-0.535	0.09310|0.09310	N|N	1|1	B;B|.	0.18610|.	0.0;0.029|.	B;B|.	0.21917|.	0.002;0.037|.	T|T	0.31530|0.31530	-0.9940|-0.9940	9|5	0.02654|.	T|.	1|.	.|.	7.2472|7.2472	0.26129|0.26129	0.5826:0.2715:0.1459:0.0|0.5826:0.2715:0.1459:0.0	.|.	650;638|.	E9PEV2;P52742|.	.;ZN135_HUMAN|.	E|N	662;638;638;650;596|370;656	ENSP00000441410:D662E;ENSP00000444828:D638E;ENSP00000321406:D638E;ENSP00000422074:D650E;ENSP00000427691:D596E|.	ENSP00000321406:D638E|.	D|T	+|+	3|2	2|0	ZNF135|ZNF135	63271578|63271578	0.000000|0.000000	0.05858|0.05858	0.797000|0.797000	0.32132|0.32132	0.014000|0.014000	0.08584|0.08584	-1.110000|-1.110000	0.03306|0.03306	0.237000|0.237000	0.21200|0.21200	-1.399000|-1.399000	0.01144|0.01144	GAC|ACT	ZNF135-005	KNOWN	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000361901.2		+	ENST00000506786.1	Missense_Mutation	SNP	19 : 58579766 - 58579766 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	437	87
DRD2	1813	broad.mit.edu	37	11	113281506	113281506	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113281506G>T	ENST00000362072.3	-	8	1619	c.1275C>A	c.(1273-1275)atC>atA	p.I425I	DRD2_ENST00000355319.2_Silent_p.I427I|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000538967.1_Silent_p.I427I|DRD2_ENST00000346454.3_Silent_p.I396I|DRD2_ENST00000544518.1_Silent_p.I424I|DRD2_ENST00000542968.1_Silent_p.I425I	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	425					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	AGGTGGTGTAGATGATGGGGT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													273	203	227			NA	NA	11		NA											NA				113281506		2201	4296	6497	SO:0001819	synonymous_variant			M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08					1813	1813		GPCR / Class A : Dopamine receptors	3023	protein-coding gene	gene with protein product		126450			NA		Standard	NM_000795	NM_000795	NA	Approved		uc001poa.4	P14416		ENST00000362072.3:c.1275C>A	11.37:g.113281506G>T		NA	Q9NZR3|Q9UPA9	37	CCDS8361.1																																																																																			DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395834.1		-	ENST00000362072.3	Silent	SNP	11 : 113281506 - 113281506 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	820	155
BTAF1	9044	broad.mit.edu	37	10	93695422	93695422	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93695422G>A	ENST00000265990.6	+	2	331	c.23G>A	c.(22-24)cGc>cAc	p.R8H		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	8					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	p.R8H(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				AGGCTAGATCGCCTTTTTATT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											160	138	146			NA	NA	10		NA											NA				93695422		2203	4300	6503	SO:0001583	missense			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564	9044	9044			17307	protein-coding gene	gene with protein product	Mot1 homolog (S. cerevisiae)	605191	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)		NA	9342322, 9488487	Standard	NM_003972	NM_003972	NA	Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.23G>A	10.37:g.93695422G>A	ENSP00000265990:p.Arg8His	NA	O43578	37	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	33	5.241089	0.95272	.	.	ENSG00000095564	ENST00000265990	T	0.66280	-0.2	5.12	5.12	0.69794	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83589	0.5287	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87125	0.2193	10	0.87932	D	0	0.8706	18.9257	0.92544	0.0:0.0:1.0:0.0	.	8	O14981	BTAF1_HUMAN	H	8	ENSP00000265990:R8H	ENSP00000265990:R8H	R	+	2	0	BTAF1	93685402	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.757000	0.98924	2.537000	0.85549	0.655000	0.94253	CGC	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049380.4		+	ENST00000265990.6	Missense_Mutation	SNP	10 : 93695422 - 93695422 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	301	76
NUP205	23165	broad.mit.edu	37	7	135261869	135261869	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135261869G>A	ENST00000285968.6	+	5	667	c.641G>A	c.(640-642)cGc>cAc	p.R214H	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	214					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GAAAAACATCGCAAAGAGGCA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	101	102			NA	NA	7		NA											NA				135261869		2203	4300	6503	SO:0001583	missense			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561	23165	23165			18658	protein-coding gene	gene with protein product		614352	chromosome 7 open reading frame 14	C7orf14	NA	9039502, 9348540	Standard		NM_015135	NA	Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.641G>A	7.37:g.135261869G>A	ENSP00000285968:p.Arg214His	NA	A6H8X3|Q86YC1	37	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421505	0.83559	.	.	ENSG00000155561	ENST00000285968	T	0.29917	1.55	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	L	0.31420	0.93	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.15321	-1.0441	10	0.29301	T	0.29	-15.0997	19.6316	0.95708	0.0:0.0:1.0:0.0	.	214	Q92621	NU205_HUMAN	H	214	ENSP00000285968:R214H	ENSP00000285968:R214H	R	+	2	0	NUP205	134912409	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.656000	0.90262	0.591000	0.81541	CGC	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340358.1		+	ENST00000285968.6	Missense_Mutation	SNP	7 : 135261869 - 135261869 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	417	19
CD4	920	broad.mit.edu	37	12	6928490	6928490	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6928490A>G	ENST00000011653.4	+	10	1630	c.1372A>G	c.(1372-1374)Att>Gtt	p.I458V		NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	458					cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				ATGTAGCCCCATTTGAGGCAC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													173	150	158			NA	NA	12		NA											NA				6928490		2203	4300	6503	SO:0001583	missense			M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610	920	920		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing	1678	protein-coding gene	gene with protein product		186940	CD4 antigen (p55), T-cell surface glycoprotein CD4		NA		Standard	NM_000616	NM_000616	NA	Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.1372A>G	12.37:g.6928490A>G	ENSP00000011653:p.Ile458Val	NA	B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	37	CCDS8562.1	.	.	.	.	.	.	.	.	.	.	A	15.44	2.832811	0.50951	.	.	ENSG00000010610	ENST00000011653	T	0.22743	1.94	3.95	-3.52	0.04682	.	1.485190	0.04117	N	0.315664	T	0.18841	0.0452	L	0.44542	1.39	0.09310	N	0.999999	B;B	0.22800	0.075;0.075	B;B	0.19666	0.011;0.026	T	0.41627	-0.9498	10	0.62326	D	0.03	-16.945	8.6422	0.33983	0.2449:0.6549:0.1002:0.0	.	279;458	B0AZV7;P01730	.;CD4_HUMAN	V	458	ENSP00000011653:I458V	ENSP00000011653:I458V	I	+	1	0	CD4	6798751	0.009000	0.17119	0.000000	0.03702	0.400000	0.30750	0.360000	0.20250	-0.621000	0.05633	0.454000	0.30748	ATT	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399978.1		+	ENST00000011653.4	Missense_Mutation	SNP	12 : 6928490 - 6928490 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	847	126
SECISBP2L	9728	broad.mit.edu	37	15	49320695	49320695	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49320695C>T	ENST00000559471.1	-	5	1112	c.849G>A	c.(847-849)caG>caA	p.Q283Q	SECISBP2L_ENST00000261847.3_Silent_p.Q283Q	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	283										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CTGCTGCAGGCTGGTTGTTGC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	120	127			NA	NA	15		NA											NA				49320695		2197	4295	6492	SO:0001819	synonymous_variant			BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593	9728	9728			28997	protein-coding gene	gene with protein product		615756			NA		Standard	NM_014701	NM_001193489	NA	Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.849G>A	15.37:g.49320695C>T		NA	Q8N767	37	CCDS53942.1																																																																																			SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417277.1		-	ENST00000559471.1	Silent	SNP	15 : 49320695 - 49320695 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	555	105
ANO10	55129	broad.mit.edu	37	3	43640110	43640110	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:43640110T>C	ENST00000414522.2	-	4	499	c.386A>G	c.(385-387)aAa>aGa	p.K129R	ANO10_ENST00000292246.3_Missense_Mutation_p.K129R|ANO10_ENST00000451430.2_Intron|ANO10_ENST00000396091.3_Missense_Mutation_p.K63R|ANO10_ENST00000350459.4_Missense_Mutation_p.K129R	NM_001204831.1	NP_001191760.1	Q9NW15	ANO10_HUMAN	anoctamin 10	129					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						AAGTTCATGTTTGATAATGAA	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	120	122			NA	NA	3		NA											NA				43640110		2203	4296	6499	SO:0001583	missense			AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746	55129	55129		Ion channels / Chloride channels : Calcium activated : Anoctamins	25519	protein-coding gene	gene with protein product		613726	transmembrane protein 16K	TMEM16K	NA	12477932, 24692353	Standard	NM_018075	NM_001204831	NA	Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000414522.2:c.386A>G	3.37:g.43640110T>C	ENSP00000396990:p.Lys129Arg	NA	A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B7WP12|Q8IXX9	37	CCDS56250.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.732828	0.89482	.	.	ENSG00000160746	ENST00000292246;ENST00000350459;ENST00000396091;ENST00000414522;ENST00000427171;ENST00000444344;ENST00000456438;ENST00000413397;ENST00000439141	T;T;T;T;T;T;D;D;D	0.86030	0.14;-0.74;0.16;0.17;1.98;1.93;-2.06;-2.06;-2.06	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.90679	0.7076	M	0.66297	2.02	0.80722	D	1	P;D;P;P	0.71674	0.897;0.998;0.569;0.897	P;D;B;P	0.80764	0.562;0.994;0.382;0.562	D	0.88224	0.2899	10	0.19147	T	0.46	.	16.2813	0.82687	0.0:0.0:0.0:1.0	.	129;129;63;129	C9JHS1;Q9NW15-2;Q9NW15-3;Q9NW15	.;.;.;ANO10_HUMAN	R	129;129;63;129;129;129;129;129;129	ENSP00000292246:K129R;ENSP00000327767:K129R;ENSP00000379398:K63R;ENSP00000396990:K129R;ENSP00000406432:K129R;ENSP00000402010:K129R;ENSP00000402845:K129R;ENSP00000399103:K129R;ENSP00000397360:K129R	ENSP00000292246:K129R	K	-	2	0	ANO10	43615114	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.054000	0.76649	2.244000	0.73946	0.533000	0.62120	AAA	ANO10-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344332.2		-	ENST00000414522.2	Missense_Mutation	SNP	3 : 43640110 - 43640110 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	119	20
DEPDC5	9681	broad.mit.edu	37	22	32215144	32215144	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32215144C>T	ENST00000382112.3	+	21	1873	c.1803C>T	c.(1801-1803)ttC>ttT	p.F601F	DEPDC5_ENST00000382105.2_Silent_p.F601F|DEPDC5_ENST00000535622.1_Silent_p.F601F|DEPDC5_ENST00000382111.2_Silent_p.F601F|DEPDC5_ENST00000400249.2_Silent_p.F601F|DEPDC5_ENST00000266091.3_Silent_p.F601F|DEPDC5_ENST00000400248.2_Silent_p.F601F|DEPDC5_ENST00000400246.1_Silent_p.F601F|DEPDC5_ENST00000536766.1_Silent_p.F573F	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	601					intracellular signal transduction			p.F601F(3)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TTAACCCCTTCGCTCCCTCTC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				3	Substitution - coding silent(3)	lung(2)|large_intestine(1)						C	,,,	0,4122		0,0,2061	141	141	141		1803,1803,1803,1803	-5.4	0.8	22		141	1,8419		0,1,4209	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DEPDC5	NM_001136029.2,NM_001242896.1,NM_001242897.1,NM_014662.3	,,,	0,1,6270	TT,TC,CC	NA	0.0119,0.0,0.0080	,,,	601/1595,601/1604,601/1504,601/1573	32215144	1,12541	2061	4210	6271	SO:0001819	synonymous_variant			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150	9681	9681			18423	protein-coding gene	gene with protein product		614191			NA	23542697, 23542701	Standard	NM_014662	NM_001242896	NA	Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.1803C>T	22.37:g.32215144C>T		NA	A6H8V6|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	37	CCDS46692.1																																																																																			DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000129087.1		+	ENST00000382112.3	Silent	SNP	22 : 32215144 - 32215144 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	743	129
ADCY10	55811	broad.mit.edu	37	1	167874374	167874374	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167874374T>G	ENST00000367851.4	-	2	189	c.5A>C	c.(4-6)aAc>aCc	p.N2T	ADCY10_ENST00000476818.2_Missense_Mutation_p.N2T|ADCY10_ENST00000367848.1_5'UTR|ADCY10_ENST00000545172.1_Intron	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	2					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTTTGGAGTGTTCATGTTCAA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	153	155			NA	NA	1		NA											NA				167874374		2203	4300	6503	SO:0001583	missense			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	55811	55811	4.6.1.1	Adenylate cyclases	21285	protein-coding gene	gene with protein product	soluble adenylyl cyclase, Hypercalciuria, absorptive, 2	605205			NA		Standard	NM_018417	XM_006711449	NA	Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.5A>C	1.37:g.167874374T>G	ENSP00000356825:p.Asn2Thr	NA	O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	37	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	T	11.94	1.788041	0.31593	.	.	ENSG00000143199	ENST00000367851	T	0.31769	1.48	5.05	-7.17	0.01511	.	0.665201	0.14367	N	0.324022	T	0.10637	0.0260	L	0.51422	1.61	0.23524	N	0.997491	B	0.31680	0.335	B	0.22386	0.039	T	0.00448	-1.1733	9	0.59425	D	0.04	-2.7767	16.0264	0.80548	0.0:0.7894:0.0:0.2106	.	2	Q96PN6	ADCYA_HUMAN	T	2	ENSP00000356825:N2T	ENSP00000356825:N2T	N	-	2	0	ADCY10	166140998	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.813000	0.01725	-1.422000	0.02004	-0.408000	0.06270	AAC	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083663.1		-	ENST00000367851.4	Missense_Mutation	SNP	1 : 167874374 - 167874374 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	607	139
IQGAP1	8826	broad.mit.edu	37	15	91017342	91017342	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91017342C>T	ENST00000268182.5	+	22	2676	c.2552C>T	c.(2551-2553)gCt>gTt	p.A851V	IQGAP1_ENST00000560738.1_Missense_Mutation_p.A279V	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	851	IQ 4.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GCAAACAAAGCTCGGGATGAC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	57	57			NA	NA	15		NA											NA				91017342		2198	4298	6496	SO:0001583	missense			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575	8826	8826			6110	protein-coding gene	gene with protein product	RasGAP-like with IQ motifs	603379			NA	8051149, 8670801	Standard	NM_003870	XM_005254984	NA	Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.2552C>T	15.37:g.91017342C>T	ENSP00000268182:p.Ala851Val	NA	A7MBM3	37	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	C	36	5.654607	0.96724	.	.	ENSG00000140575	ENST00000268182	T	0.02498	4.27	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.14442	0.0349	M	0.80616	2.505	0.80722	D	1	D	0.59767	0.986	P	0.59012	0.85	T	0.00127	-1.2019	10	0.46703	T	0.11	-14.4008	18.7225	0.91700	0.0:1.0:0.0:0.0	.	851	P46940	IQGA1_HUMAN	V	851	ENSP00000268182:A851V	ENSP00000268182:A851V	A	+	2	0	IQGAP1	88818346	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.666000	0.83877	2.746000	0.94184	0.655000	0.94253	GCT	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313493.1		+	ENST00000268182.5	Missense_Mutation	SNP	15 : 91017342 - 91017342 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	288	53
TDP1	55775	broad.mit.edu	37	14	90485729	90485729	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90485729C>T	ENST00000335725.4	+	15	1861	c.1611C>T	c.(1609-1611)taC>taT	p.Y537Y	TDP1_ENST00000393452.3_Silent_p.Y537Y|TDP1_ENST00000357382.3_Silent_p.Y298Y|TDP1_ENST00000555880.1_Silent_p.Y537Y|TDP1_ENST00000393454.2_Silent_p.Y537Y	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	537					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TCCGCTCCTACGAGCTCGGGG	0.527		NA						Repair of DNA-protein crosslinks						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	107	111			NA	NA	14		NA											NA				90485729		2203	4300	6503	SO:0001819	synonymous_variant			AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088	55775	55775			18884	protein-coding gene	gene with protein product		607198			NA	11839309, 12244316	Standard	NM_018319	XM_005267847	NA	Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.1611C>T	14.37:g.90485729C>T		NA	Q2HXX4|Q96BK7|Q9NZM7|Q9NZM8	37	CCDS9888.1	.	.	.	.	.	.	.	.	.	.	C	8.413	0.844518	0.16963	.	.	ENSG00000042088	ENST00000556063	.	.	.	5.01	-5.69	0.02428	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.4071	14.5368	0.67966	0.0:0.1961:0.0:0.8039	.	.	.	.	X	178	.	.	R	+	1	2	TDP1	89555482	0.015000	0.18098	0.891000	0.34965	0.962000	0.63368	-1.226000	0.02953	-1.082000	0.03101	-1.202000	0.01658	CGA	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411239.1		+	ENST00000335725.4	Silent	SNP	14 : 90485729 - 90485729 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	236	40
PPM1N	147699	broad.mit.edu	37	19	45996450	45996450	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45996450C>A	ENST00000401705.1	+	1	203				RTN2_ENST00000344680.4_Intron|RTN2_ENST00000590526.1_Missense_Mutation_p.S60I|RTN2_ENST00000245923.4_Missense_Mutation_p.S334I|RTN2_ENST00000430715.2_5'UTR			Q8N819	PPM1N_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)	NA							magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						GAGTGAGAGGCTGGGGACACC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	91	88			NA	NA	19		NA											NA				45996450		2202	4294	6496	SO:0001627	intron_variant			AK097444	CCDS46115.1	19q13.32	2012-04-17			ENSG00000213889	ENSG00000213889	147699	147699		Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent	26845	protein-coding gene	gene with protein product					NA		Standard	NM_001080401	NM_001080401	NA	Approved	FLJ40125	uc002pce.3	Q8N819	OTTHUMG00000140397	ENST00000401705.1:c.-16+4213C>A	19.37:g.45996450C>A		NA	Q6P662	37		.	.	.	.	.	.	.	.	.	.	C	19.48	3.835262	0.71373	.	.	ENSG00000125744	ENST00000245923	T	0.48522	0.81	4.42	2.3	0.28687	.	0.963263	0.08459	U	0.942690	T	0.29945	0.0749	N	0.08118	0	0.80722	D	1	P	0.41041	0.736	P	0.44477	0.451	T	0.05338	-1.0891	10	0.21540	T	0.41	-2.4034	6.1929	0.20534	0.0:0.7722:0.0:0.2278	.	334	O75298	RTN2_HUMAN	I	334	ENSP00000245923:S334I	ENSP00000245923:S334I	S	-	2	0	RTN2	50688290	0.995000	0.38212	0.997000	0.53966	0.965000	0.64279	0.486000	0.22340	0.789000	0.33779	0.467000	0.42956	AGC	PPM1N-008	KNOWN	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000326520.1		+	ENST00000401705.1	Intron	SNP	19 : 45996450 - 45996450 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1011	207
UPB1	51733	broad.mit.edu	37	22	24898122	24898122	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24898122C>A	ENST00000326010.5	+	3	649	c.305C>A	c.(304-306)gCt>gAt	p.A102D	UPB1_ENST00000413389.2_Missense_Mutation_p.A34D|UPB1_ENST00000382760.2_Missense_Mutation_p.A102D	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	102	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					CGCATAAAGGCTATCGTAGAG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													252	217	229			NA	NA	22		NA											NA				24898122		2203	4300	6503	SO:0001583	missense			AB013885	CCDS13827.1	22q11.2	2008-04-11			ENSG00000100024	ENSG00000100024	51733	51733			16297	protein-coding gene	gene with protein product		606673			NA	10542323	Standard		XR_244378	NA	Approved	BUP1	uc003aaf.3	Q9UBR1	OTTHUMG00000150749	ENST00000326010.5:c.305C>A	22.37:g.24898122C>A	ENSP00000324343:p.Ala102Asp	NA	A3KMF8|Q9UIR3	37	CCDS13827.1	.	.	.	.	.	.	.	.	.	.	C	2.597	-0.293848	0.05568	.	.	ENSG00000100024	ENST00000413389;ENST00000326010;ENST00000382760;ENST00000426507	D;D;D	0.86865	-2.18;-2.18;-1.67	5.06	1.42	0.22433	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.167322	0.52532	D	0.000072	T	0.69415	0.3108	N	0.10972	0.075	0.29193	N	0.875738	B;B	0.06786	0.001;0.0	B;B	0.09377	0.002;0.004	T	0.55829	-0.8079	10	0.15499	T	0.54	-12.8567	7.4629	0.27306	0.5662:0.312:0.1217:0.0	.	102;34	Q9UBR1;E7EUZ5	BUP1_HUMAN;.	D	34;102;102;102	ENSP00000406057:A34D;ENSP00000324343:A102D;ENSP00000372208:A102D	ENSP00000324343:A102D	A	+	2	0	UPB1	23228122	1.000000	0.71417	0.111000	0.21465	0.074000	0.17049	3.355000	0.52262	0.470000	0.27294	0.650000	0.86243	GCT	UPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319869.1		+	ENST00000326010.5	Missense_Mutation	SNP	22 : 24898122 - 24898122 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	745	30
UBQLN3	50613	broad.mit.edu	37	11	5529987	5529987	+	Missense_Mutation	SNP	C	C	T	rs144033515	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5529987C>T	ENST00000311659.4	-	2	949	c.802G>A	c.(802-804)Gca>Aca	p.A268T	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	268										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTGGACTGCGTTAAGCATT	0.517		NA											c	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	LOWCOV,EXOME	NA	NA	0.0191	SNP	Ovarian(72;684 1260 12332 41642 52180)							NA				0									THR/ALA	0,4402		0,0,2201	122	106	112		802	5.6	1	11	dbSNP_134	112	3,8591	3.0+/-9.4	0,3,4294	yes	missense	UBQLN3	NM_017481.2	58	0,3,6495	TT,TC,CC	NA	0.0349,0.0,0.0231	probably-damaging	268/656	5529987	3,12993	2201	4297	6498	SO:0001583	missense			AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520	50613	50613		Ubiquilin family	12510	protein-coding gene	gene with protein product		605473			NA	10831842	Standard	NM_017481	NM_017481	NA	Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.802G>A	11.37:g.5529987C>T	ENSP00000347997:p.Ala268Thr	NA	Q9NRE0	37	CCDS7758.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	21.0	4.086352	0.76642	0.0	3.49E-4	ENSG00000175520	ENST00000311659	T	0.51817	0.69	5.63	5.63	0.86233	.	0.000000	0.45126	D	0.000389	T	0.54159	0.1841	M	0.88181	2.935	0.47094	D	0.999313	P	0.39060	0.657	B	0.30105	0.111	T	0.66396	-0.5934	10	0.87932	D	0	-11.0381	17.5369	0.87834	0.0:1.0:0.0:0.0	.	268	Q9H347	UBQL3_HUMAN	T	268	ENSP00000347997:A268T	ENSP00000347997:A268T	A	-	1	0	UBQLN3	5486563	1.000000	0.71417	0.983000	0.44433	0.971000	0.66376	7.322000	0.79097	2.804000	0.96469	0.586000	0.80456	GCA	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000143348.1		-	ENST00000311659.4	Missense_Mutation	SNP	11 : 5529987 - 5529987 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	625	116
ROCK1	6093	broad.mit.edu	37	18	18622107	18622107	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:18622107C>T	ENST00000399799.2	-	8	1850	c.910G>A	c.(910-912)Gac>Aac	p.D304N		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	NA	Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TTTGATATGTCATTATCATCA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	81	81			NA	NA	18		NA											NA				18622107		2202	4294	6496	SO:0001583	missense				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	6093	6093	2.7.11.1	Pleckstrin homology (PH) domain containing	10251	protein-coding gene	gene with protein product		601702			NA	8617235	Standard	NM_005406	NM_005406	NA	Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.910G>A	18.37:g.18622107C>T	ENSP00000382697:p.Asp304Asn	NA	B0YJ91|Q2KHM4|Q59GZ4	37	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819112	0.90873	.	.	ENSG00000067900	ENST00000399799	T	0.65178	-0.14	5.36	5.36	0.76844	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.048434	0.85682	D	0.000000	T	0.44222	0.1283	N	0.03891	-0.335	0.80722	D	1	B	0.10296	0.003	B	0.14023	0.01	T	0.42899	-0.9424	10	0.87932	D	0	.	19.2789	0.94044	0.0:1.0:0.0:0.0	.	304	Q13464	ROCK1_HUMAN	N	304	ENSP00000382697:D304N	ENSP00000382697:D304N	D	-	1	0	ROCK1	16876105	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.609000	0.82925	2.774000	0.95407	0.655000	0.94253	GAC	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254641.2		-	ENST00000399799.2	Missense_Mutation	SNP	18 : 18622107 - 18622107 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	471	19
SCN10A	6336	broad.mit.edu	37	3	38752374	38752374	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38752374G>A	ENST00000449082.2	-	23	4103	c.4104C>T	c.(4102-4104)ggC>ggT	p.G1368G		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1368					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGTCCATCCAGCCTTTAAAGG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	87	92			NA	NA	3		NA											NA				38752374		2203	4300	6503	SO:0001819	synonymous_variant			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313	6336	6336		Sodium channels, Voltage-gated ion channels / Sodium channels	10582	protein-coding gene	gene with protein product		604427	sodium channel, voltage-gated, type X, alpha polypeptide		NA	9839820, 10198179, 16382098	Standard	NM_006514	NM_006514	NA	Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4104C>T	3.37:g.38752374G>A		NA	A6NDQ1	37	CCDS33736.1																																																																																			SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109745.3		-	ENST00000449082.2	Silent	SNP	3 : 38752374 - 38752374 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	140	19
BCL11B	64919	broad.mit.edu	37	14	99697702	99697702	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99697702C>T	ENST00000357195.3	-	3	629	c.620G>A	c.(619-621)gGa>gAa	p.G207E	BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000345514.2_Intron	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	207						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		ACACTGGCATCCAAAGGGAGC	0.721		NA	T	TLX3	T-ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	0													27	26	26			NA	NA	14		NA											NA				99697702		2203	4296	6499	SO:0001583	missense			AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152	64919	64919		Zinc fingers, C2H2-type	13222	protein-coding gene	gene with protein product		606558		ZNF856B	NA	11719382, 16950772	Standard	NM_138576	NM_138576	NA	Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.620G>A	14.37:g.99697702C>T	ENSP00000349723:p.Gly207Glu	NA	Q9H162	37	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570624	0.65765	.	.	ENSG00000127152	ENST00000357195	T	0.44881	0.91	5.28	5.28	0.74379	.	0.875761	0.09533	N	0.789240	T	0.56615	0.1997	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.50955	-0.8766	10	0.49607	T	0.09	-1.9845	17.1189	0.86696	0.0:1.0:0.0:0.0	.	207	Q9C0K0	BC11B_HUMAN	E	207	ENSP00000349723:G207E	ENSP00000349723:G207E	G	-	2	0	BCL11B	98767455	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.606000	0.61126	2.474000	0.83562	0.555000	0.69702	GGA	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000072332.2		-	ENST00000357195.3	Missense_Mutation	SNP	14 : 99697702 - 99697702 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	215	46
ZNF85	7639	broad.mit.edu	37	19	21132125	21132125	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21132125C>T	ENST00000601023.1	+	2	1274	c.628C>T	c.(628-630)Cga>Tga	p.R210*	ZNF85_ENST00000345030.6_Nonsense_Mutation_p.R236*|ZNF85_ENST00000328178.8_Nonsense_Mutation_p.R269*			Q03923	ZNF85_HUMAN	zinc finger protein 85	269						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						AACTTTTAACCGATTCTCAAC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	29	28			NA	NA	19		NA											NA				21132125		2192	4289	6481	SO:0001587	stop_gained			U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750	7639	7639		Zinc fingers, C2H2-type, -	13160	protein-coding gene	gene with protein product		603899	zinc finger protein 85 (HPF4, HTF1)		NA	2505992	Standard	NM_003429	NM_003429	NA	Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000601023.1:c.628C>T	19.37:g.21132125C>T	ENSP00000472206:p.Arg210*	NA	B9ZVP4	37		.	.	.	.	.	.	.	.	.	.	.	13.82	2.350174	0.41599	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	.	.	.	1.35	-2.7	0.06004	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	4.8448	0.13509	0.0:0.4312:0.3705:0.1983	.	.	.	.	X	269;236;144	.	ENSP00000329793:R269X	R	+	1	2	ZNF85	20923965	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-6.672000	0.00057	-1.323000	0.02275	-0.672000	0.03802	CGA	ZNF85-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000463433.2		+	ENST00000601023.1	Nonsense_Mutation	SNP	19 : 21132125 - 21132125 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	230	42
PCDHGA10	56106	broad.mit.edu	37	5	140792997	140792997	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140792997C>T	ENST00000398610.2	+	1	255	c.255C>T	c.(253-255)agC>agT	p.S85S	PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			protocadherin gamma subfamily A, 10	NA										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCGCGCAGCGGCAGCTTGA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	75	69			NA	NA	5		NA											NA				140792997		2119	4261	6380	SO:0001819	synonymous_variant				CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846	56106	56106		Cadherins / Protocadherins : Clustered	8697	other	protocadherin		606297			NA	10380929	Standard	NM_018913	NM_018913	NA	Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.255C>T	5.37:g.140792997C>T		NA		37	CCDS47292.1																																																																																			PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374747.1		+	ENST00000398610.2	Silent	SNP	5 : 140792997 - 140792997 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	883	24
TYMS	7298	broad.mit.edu	37	18	670816	670816	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:670816C>T	ENST00000323224.7	+	4	579	c.579C>T	c.(577-579)atC>atT	p.I193I	TYMS_ENST00000581920.1_3'UTR|TYMS_ENST00000323274.10_Silent_p.I227I|TYMS_ENST00000323250.5_Silent_p.I144I			P04818	TYSY_HUMAN	thymidylate synthetase	227					DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity	p.I227I(1)		endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)	CTTTCAACATCGCCAGCTACG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	endometrium(1)											165	128	140			NA	NA	18		NA											NA				670816		2203	4300	6503	SO:0001819	synonymous_variant			X02308	CCDS11821.1	18p11.31-p11.21	2014-09-17			ENSG00000176890	ENSG00000176890	7298	7298	2.1.1.45		12441	protein-coding gene	gene with protein product		188350		TS	NA		Standard	NM_001071	NM_001071	NA	Approved	Tsase, TMS, HsT422	uc010dka.1	P04818	OTTHUMG00000131473	ENST00000323224.7:c.579C>T	18.37:g.670816C>T		NA		37																																																																																				TYMS-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000441157.2		+	ENST00000323224.7	Silent	SNP	18 : 670816 - 670816 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	630	106
ANO4	121601	broad.mit.edu	37	12	101295607	101295607	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101295607T>G	ENST00000392979.3	+	2	405	c.44T>G	c.(43-45)gTc>gGc	p.V15G	ANO4_ENST00000538618.1_Missense_Mutation_p.V181G|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.V15G	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	15						chloride channel complex	chloride channel activity	p.V15D(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AAAACCAAAGTCTTCCACCCA	0.468		NA								HNSCC(74;0.22)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											95	93	94			NA	NA	12		NA											NA				101295607		2203	4300	6503	SO:0001583	missense			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572	121601	121601		Ion channels / Chloride channels : Calcium activated : Anoctamins	23837	protein-coding gene	gene with protein product		610111	transmembrane protein 16D	TMEM16D	NA	12739008, 15067359, 24692353	Standard	NM_178826	NM_178826	NA	Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392979.3:c.44T>G	12.37:g.101295607T>G	ENSP00000376705:p.Val15Gly	NA	Q8NAJ0|Q8NB39|Q8NB53	37	CCDS31884.1	.	.	.	.	.	.	.	.	.	.	T	17.67	3.447952	0.63178	.	.	ENSG00000151572	ENST00000538618;ENST00000392979;ENST00000392977	T;T;T	0.77229	-1.08;0.95;-0.48	5.63	4.44	0.53790	.	0.427195	0.22411	N	0.060415	T	0.60663	0.2286	N	0.14661	0.345	0.80722	D	1	B;B	0.13594	0.008;0.004	B;B	0.14023	0.004;0.01	T	0.56619	-0.7949	10	0.87932	D	0	.	7.441	0.27183	0.0:0.2383:0.0:0.7617	.	15;15	Q32M45;Q32M45-2	ANO4_HUMAN;.	G	181;15;15	ENSP00000443751:V181G;ENSP00000376705:V15G;ENSP00000376703:V15G	ENSP00000376703:V15G	V	+	2	0	ANO4	99819738	0.995000	0.38212	0.998000	0.56505	0.970000	0.65996	1.183000	0.32041	0.905000	0.36596	0.528000	0.53228	GTC	ANO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409294.2		+	ENST00000392979.3	Missense_Mutation	SNP	12 : 101295607 - 101295607 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	617	112
PNPLA7	375775	broad.mit.edu	37	9	140416117	140416117	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140416117G>T	ENST00000277531.4	-	9	1039	c.853C>A	c.(853-855)Ctc>Atc	p.L285I	PNPLA7_ENST00000406427.1_Missense_Mutation_p.L310I	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	285					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GTCAGGCCGAGGTAGTTGTGC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	138	149			NA	NA	9		NA											NA				140416117		2203	4300	6503	SO:0001583	missense			AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653	375775	375775		Patatin-like phospholipase domain containing	24768	protein-coding gene	gene with protein product		612122	chromosome 9 open reading frame 111	C9orf111	NA	16799181, 12640454, 19029121	Standard	NM_152286	XM_005266082	NA	Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.853C>A	9.37:g.140416117G>T	ENSP00000277531:p.Leu285Ile	NA	B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	37	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563386	0.45694	.	.	ENSG00000130653	ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090;ENST00000371450	T;T;T;T	0.76968	1.24;-1.04;-1.06;-1.01	4.75	1.35	0.21983	.	0.160277	0.42964	D	0.000622	D	0.86222	0.5881	M	0.83483	2.645	0.21822	N	0.999529	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.87578	0.991;0.998;0.956	T	0.76838	-0.2811	10	0.87932	D	0	-18.4941	9.378	0.38295	0.2962:0.0:0.7038:0.0	.	16;310;285	E2QRF8;Q6ZV29-5;Q6ZV29	.;.;PLPL7_HUMAN	I	16;285;310;285;276;310	ENSP00000360501:L16I;ENSP00000277531:L285I;ENSP00000384610:L310I;ENSP00000400582:L276I	ENSP00000277531:L285I	L	-	1	0	PNPLA7	139535938	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	2.341000	0.43983	0.422000	0.26005	0.313000	0.20887	CTC	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254787.1		-	ENST00000277531.4	Missense_Mutation	SNP	9 : 140416117 - 140416117 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	455	31
TMPRSS3	64699	broad.mit.edu	37	21	43815520	43815520	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43815520C>T	ENST00000291532.3	-	2	962	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	TMPRSS3_ENST00000380399.1_Missense_Mutation_p.E87K|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.E3K|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.E3K|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.E3K	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	3					cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GGATCATTTTCCCCCATGGTG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	88	93			NA	NA	21		NA											NA				43815520		2203	4300	6503	SO:0001583	missense			AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183	64699	64699		Serine peptidases / Transmembrane	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8	NA	11462234, 11907649	Standard		NM_032405	NA	Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.7G>A	21.37:g.43815520C>T	ENSP00000291532:p.Glu3Lys	NA	D3DSJ6|Q6ZMC3	37	CCDS13686.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403758	0.62288	.	.	ENSG00000160183	ENST00000291532;ENST00000433957;ENST00000398405;ENST00000380399;ENST00000398397	D;D;D;D;D	0.89270	-2.42;-2.43;-2.42;-2.32;-2.49	5.39	4.49	0.54785	.	0.196987	0.34603	N	0.003830	D	0.88607	0.6482	N	0.24115	0.695	0.33055	D	0.533259	D;D;D	0.67145	0.996;0.996;0.993	P;D;D	0.76071	0.895;0.987;0.971	D	0.88057	0.2791	9	.	.	.	.	10.577	0.45233	0.0:0.9064:0.0:0.0936	.	3;3;3	P57727-3;P57727-5;P57727	.;.;TMPS3_HUMAN	K	3;3;3;87;3	ENSP00000291532:E3K;ENSP00000411013:E3K;ENSP00000381442:E3K;ENSP00000369762:E87K;ENSP00000381434:E3K	.	E	-	1	0	TMPRSS3	42688589	0.990000	0.36364	0.993000	0.49108	0.852000	0.48524	2.010000	0.40913	2.691000	0.91804	0.655000	0.94253	GAA	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195347.1		-	ENST00000291532.3	Missense_Mutation	SNP	21 : 43815520 - 43815520 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	192	16
FLG2	388698	broad.mit.edu	37	1	152327349	152327349	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152327349G>A	ENST00000388718.5	-	3	2985	c.2913C>T	c.(2911-2913)tcC>tcT	p.S971S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	971	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAAAGCCAGAGGACTGACCTG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													265	267	266			NA	NA	1		NA											NA				152327349		2203	4300	6503	SO:0001819	synonymous_variant			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520	388698	388698		EF-hand domain containing	33276	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_001014342	NM_001014342	NA	Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2913C>T	1.37:g.152327349G>A		NA	Q9H4U1	37	CCDS30861.1																																																																																			FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034018.5		-	ENST00000388718.5	Silent	SNP	1 : 152327349 - 152327349 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2147	377
TRIM41	90933	broad.mit.edu	37	5	180661696	180661696	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180661696C>T	ENST00000315073.5	+	6	2524	c.1814C>T	c.(1813-1815)tCg>tTg	p.S605L	TRIM41_ENST00000510072.1_3'UTR|TRIM41_ENST00000351937.5_Intron	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	605	B30.2/SPRY.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACACCTTCTCGGCTGCCTTC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	105	102			NA	NA	5		NA											NA				180661696		2203	4300	6503	SO:0001583	missense			AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063	90933	90933		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	19013	protein-coding gene	gene with protein product	RING-finger protein that interacts with C kinase	610530	tripartite motif-containing 41		NA	16022281	Standard	NM_201627	NM_033549	NA	Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.1814C>T	5.37:g.180661696C>T	ENSP00000320869:p.Ser605Leu	NA	B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	37	CCDS4466.1	.	.	.	.	.	.	.	.	.	.	C	9.901	1.206989	0.22205	.	.	ENSG00000146063	ENST00000315073;ENST00000438174	T	0.70282	-0.47	4.86	3.98	0.46160	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.328211	0.22250	N	0.062574	T	0.76814	0.4040	L	0.55990	1.75	0.20074	N	0.999938	D	0.69078	0.997	P	0.60682	0.878	T	0.68164	-0.5481	10	0.72032	D	0.01	.	10.9864	0.47525	0.0:0.8113:0.1887:0.0	.	605	Q8WV44	TRI41_HUMAN	L	605;290	ENSP00000320869:S605L	ENSP00000320869:S605L	S	+	2	0	TRIM41	180594302	0.201000	0.23410	0.441000	0.26858	0.001000	0.01503	0.018000	0.13422	1.250000	0.43966	-0.519000	0.04390	TCG	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253574.3		+	ENST00000315073.5	Missense_Mutation	SNP	5 : 180661696 - 180661696 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	726	128
OSMR	9180	broad.mit.edu	37	5	38925342	38925342	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38925342C>T	ENST00000274276.3	+	15	2483	c.2081C>T	c.(2080-2082)cCg>cTg	p.P694L		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	694	Fibronectin type-III 4.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					ATTGACAACCCGGAAGAAAAG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	106	109			NA	NA	5		NA											NA				38925342		2203	4300	6503	SO:0001583	missense			U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623	9180	9180		Fibronectin type III domain containing	8507	protein-coding gene	gene with protein product		601743			NA	8999038	Standard	NM_003999	NM_001168355	NA	Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.2081C>T	5.37:g.38925342C>T	ENSP00000274276:p.Pro694Leu	NA	Q6P4E8|Q96QJ6	37	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	C	3.503	-0.101350	0.06967	.	.	ENSG00000145623	ENST00000274276	T	0.53206	0.63	5.76	5.76	0.90799	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.532999	0.21392	N	0.075284	T	0.61160	0.2325	L	0.56769	1.78	0.27464	N	0.953066	D	0.89917	1.0	P	0.62298	0.9	T	0.55023	-0.8205	10	0.18276	T	0.48	.	16.693	0.85327	0.0:1.0:0.0:0.0	.	694	Q99650	OSMR_HUMAN	L	694	ENSP00000274276:P694L	ENSP00000274276:P694L	P	+	2	0	OSMR	38961099	0.305000	0.24481	0.071000	0.20095	0.022000	0.10575	3.948000	0.56660	2.732000	0.93576	0.655000	0.94253	CCG	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207609.2		+	ENST00000274276.3	Missense_Mutation	SNP	5 : 38925342 - 38925342 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	572	113
UNC50	25972	broad.mit.edu	37	2	99226382	99226382	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99226382C>T	ENST00000409975.1	+	1	1341	c.211C>T	c.(211-213)Ctc>Ttc	p.L71F	UNC50_ENST00000409347.1_Missense_Mutation_p.L71F|UNC50_ENST00000357765.2_Missense_Mutation_p.L54F			Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	54					protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						CTGGCAGATGCTCTACCTGTT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	107	106			NA	NA	2		NA											NA				99226382		2203	4300	6503	SO:0001583	missense				CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446	25972	25972			16046	protein-coding gene	gene with protein product					NA	10980252	Standard	NM_014044	NM_014044	NA	Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000409975.1:c.211C>T	2.37:g.99226382C>T	ENSP00000387146:p.Leu71Phe	NA	D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	37		.	.	.	.	.	.	.	.	.	.	C	15.40	2.823659	0.50739	.	.	ENSG00000115446	ENST00000357765;ENST00000409975;ENST00000409347	.	.	.	5.36	5.36	0.76844	.	0.126220	0.56097	D	0.000040	T	0.45013	0.1321	N	0.20685	0.6	0.80722	D	1	B	0.25007	0.116	B	0.28638	0.092	T	0.32508	-0.9904	9	0.16420	T	0.52	-20.4457	18.0646	0.89387	0.0:1.0:0.0:0.0	.	54	Q53HI1	UNC50_HUMAN	F	54;71;71	.	ENSP00000350409:L54F	L	+	1	0	UNC50	98592814	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	4.511000	0.60462	2.505000	0.84491	0.591000	0.81541	CTC	UNC50-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000329560.1		+	ENST00000409975.1	Missense_Mutation	SNP	2 : 99226382 - 99226382 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	737	117
PPP1R26	9858	broad.mit.edu	37	9	138377508	138377508	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138377508C>T	ENST00000356818.2	+	4	1701	c.1152C>T	c.(1150-1152)gcC>gcT	p.A384A	PPP1R26_ENST00000605660.1_Silent_p.A384A|PPP1R26_ENST00000604351.1_Silent_p.A384A|PPP1R26_ENST00000605286.1_Silent_p.A384A|PPP1R26_ENST00000401470.3_Silent_p.A384A|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	384						nucleolus	protein binding				NA						GCAAGGAGGCCGACGGGGACC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	42	40			NA	NA	9		NA											NA				138377508		2203	4300	6503	SO:0001819	synonymous_variant			AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422	9858	9858		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	29089	protein-coding gene	gene with protein product	DRIM/UTP20 interacting protein, 1A6/DRIM (down-regulated in metastasis) interacting protein	614056	KIAA0649	KIAA0649	NA	9734811, 16053918	Standard	NM_014811	NM_014811	NA	Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.1152C>T	9.37:g.138377508C>T		NA	Q86WU0|Q8WVV0|Q9Y4D3	37	CCDS6988.1																																																																																			PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054987.1		+	ENST00000356818.2	Silent	SNP	9 : 138377508 - 138377508 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	435	78
NOD2	64127	broad.mit.edu	37	16	50746021	50746021	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50746021G>A	ENST00000300589.2	+	4	2304	c.2199G>A	c.(2197-2199)gtG>gtA	p.V733V		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	733					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CCAAGAGCGTGCATGCCATGC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	54	57			NA	NA	16		NA											NA				50746021		2198	4300	6498	SO:0001819	synonymous_variant			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207	64127	64127		Nucleotide-binding domain and leucine rich repeat containing	5331	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2, NOD-like receptor C2, NLR family, CARD domain containing 2	605956	caspase recruitment domain family, member 15	IBD1, CARD15	NA	7809109, 8587604	Standard	NM_022162	XM_005256084	NA	Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.2199G>A	16.37:g.50746021G>A		NA	Q96RH5|Q96RH6|Q96RH8	37	CCDS10746.1																																																																																			NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256876.2		+	ENST00000300589.2	Silent	SNP	16 : 50746021 - 50746021 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	427	77
TMPRSS15	5651	broad.mit.edu	37	21	19642342	19642342	+	Missense_Mutation	SNP	C	C	T	rs144640412	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:19642342C>T	ENST00000284885.3	-	25	3037	c.3004G>A	c.(3004-3006)Gga>Aga	p.G1002R		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	1002	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GCATACACTCCGGGGCGATTA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ARG/GLY	2,4404	4.2+/-10.8	0,2,2201	130	117	122		3004	4.2	1	21	dbSNP_134	122	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TMPRSS15	NM_002772.2	125	0,4,6499	TT,TC,CC	NA	0.0233,0.0454,0.0308	probably-damaging	1002/1020	19642342	4,13002	2203	4300	6503	SO:0001583	missense				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646	5651	5651		Serine peptidases / Transmembrane	9490	protein-coding gene	gene with protein product	proenterokinase, enteropeptidase	606635	protease, serine, 7 (enterokinase)	PRSS7	NA	8052624	Standard	NM_002772	NM_002772	NA	Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.3004G>A	21.37:g.19642342C>T	ENSP00000284885:p.Gly1002Arg	NA	Q2NKL7	37	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.088709	0.55968	4.54E-4	2.33E-4	ENSG00000154646	ENST00000284885	D	0.91180	-2.8	5.99	4.19	0.49359	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.96558	0.8877	H	0.96430	3.82	0.52501	D	0.999955	D	0.89917	1.0	D	0.97110	1.0	D	0.96634	0.9469	9	.	.	.	.	12.0887	0.53713	0.0:0.8633:0.0:0.1367	.	1002	P98073	ENTK_HUMAN	R	1002	ENSP00000284885:G1002R	.	G	-	1	0	TMPRSS15	18564213	1.000000	0.71417	0.960000	0.40013	0.151000	0.21798	4.990000	0.63876	0.878000	0.35920	0.655000	0.94253	GGA	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000158231.2		-	ENST00000284885.3	Missense_Mutation	SNP	21 : 19642342 - 19642342 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	424	82
MXRA5	25878	broad.mit.edu	37	X	3248806	3248806	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3248806C>T	ENST00000217939.6	-	3	351	c.197G>A	c.(196-198)aGc>aAc	p.S66N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	66						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGCCTGTATGCTATTAAACCT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	54	59			NA	NA	X		NA											NA				3248806		2203	4300	6503	SO:0001583	missense			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825	25878	25878		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	7539	protein-coding gene	gene with protein product	adlican				NA	12101425	Standard	NM_015419	NM_015419	NA	Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.197G>A	X.37:g.3248806C>T	ENSP00000217939:p.Ser66Asn	NA	Q6P1M7|Q9Y3Y8	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619827	0.46736	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.02323	4.34	3.81	2.94	0.34122	.	0.000000	0.43747	U	0.000527	T	0.04907	0.0132	N	0.10733	0.035	0.24320	N	0.995049	D	0.76494	0.999	D	0.72338	0.977	T	0.33979	-0.9847	10	0.87932	D	0	.	11.0229	0.47728	0.0:0.9039:0.0:0.0961	.	66	Q9NR99	MXRA5_HUMAN	N	66	ENSP00000217939:S66N	ENSP00000217939:S66N	S	-	2	0	MXRA5	3258806	0.994000	0.37717	0.034000	0.17996	0.737000	0.42083	2.643000	0.46604	0.589000	0.29677	0.509000	0.49947	AGC	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055655.2		-	ENST00000217939.6	Missense_Mutation	SNP	X : 3248806 - 3248806 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	100	28
ENDOU	8909	broad.mit.edu	37	12	48110168	48110168	+	Translation_Start_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48110168C>A	ENST00000422538.3	-	6	788	c.666G>T	c.(664-666)caG>caT	p.Q222H	ENDOU_ENST00000545824.2_Missense_Mutation_p.Q159H|ENDOU_ENST00000229003.3_Missense_Mutation_p.Q181H|RP1-197B17.3_ENST00000547799.1_lincRNA|ENDOU_ENST00000542202.1_De_novo_Start_OutOfFrame	NM_001172439.1	NP_001165910.1	P21128	ENDOU_HUMAN	endonuclease, polyU-specific	222					female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						CGGCCAGCTCCTGGGCACTGA	0.562		NA									OREG0021752	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	119	123			NA	NA	12		NA											NA				48110168		2203	4300	6503	SO:0001583	missense			M32402	CCDS8754.1, CCDS53784.1, CCDS53785.1	12q13.1	2011-08-31			ENSG00000111405	ENSG00000111405	8909	8909		Serine peptidases / Serine peptidases	14369	protein-coding gene	gene with protein product		606720			NA	2350438, 1710108, 15755742, 18936097	Standard	NM_006025.2	NM_006025	NA	Approved	PP11, P11, PRSS26	uc001rpu.2	P21128	OTTHUMG00000169670	ENST00000422538.3:c.666G>T	12.37:g.48110168C>A	ENSP00000397679:p.Gln222His	952	B2RBJ3|B3KQS7|B7Z6E1|Q2NKJ4	37	CCDS53785.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634583	0.29068	.	.	ENSG00000111405	ENST00000229003;ENST00000422538;ENST00000545824	T;T	0.32515	1.45;1.46	6.06	5.16	0.70880	.	0.278254	0.43260	D	0.000585	T	0.32526	0.0832	L	0.56396	1.775	0.80722	D	1	B;B;P	0.38745	0.447;0.444;0.645	B;B;B	0.40982	0.143;0.345;0.234	T	0.12041	-1.0563	10	0.54805	T	0.06	-32.8867	9.3973	0.38410	0.1423:0.7846:0.0:0.0732	.	159;222;181	P21128-3;P21128;P21128-2	.;ENDOU_HUMAN;.	H	181;222;159	ENSP00000229003:Q181H;ENSP00000397679:Q222H	ENSP00000229003:Q181H	Q	-	3	2	ENDOU	46396435	1.000000	0.71417	1.000000	0.80357	0.177000	0.22998	2.082000	0.41605	1.548000	0.49413	0.655000	0.94253	CAG	ENDOU-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405352.1		-	ENST00000422538.3	Missense_Mutation	SNP	12 : 48110168 - 48110168 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	365	58
ACTC1	70	broad.mit.edu	37	15	35084354	35084354	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:35084354C>A	ENST00000290378.4	-	5	1400	c.745G>T	c.(745-747)Gtc>Ttc	p.V249F	RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'UTR	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	249					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		ATAGTGATGACTTGGCCATCA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	92	94			NA	NA	15		NA											NA				35084354		2201	4298	6499	SO:0001583	missense			BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251	70	70			143	protein-coding gene	gene with protein product		102540	actin, alpha, cardiac muscle	ACTC	NA	1639426	Standard	NM_005159	NM_005159	NA	Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.745G>T	15.37:g.35084354C>A	ENSP00000290378:p.Val249Phe	NA	P04270	37	CCDS10041.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892425	0.52121	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.94758	-3.51	4.75	4.75	0.60458	.	0.000000	0.47093	U	0.000258	D	0.97841	0.9291	H	0.96576	3.845	0.80722	D	1	P	0.39535	0.677	P	0.51918	0.684	D	0.99364	1.0918	10	0.87932	D	0	.	18.3069	0.90185	0.0:1.0:0.0:0.0	.	249	P68032	ACTC_HUMAN	F	249;214	ENSP00000290378:V249F	ENSP00000290378:V249F	V	-	1	0	ACTC1	32871646	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.630000	0.89119	0.655000	0.94253	GTC	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251876.3		-	ENST00000290378.4	Missense_Mutation	SNP	15 : 35084354 - 35084354 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	65
PAAF1	80227	broad.mit.edu	37	11	73630036	73630036	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73630036T>C	ENST00000544909.1	+	8	1237	c.980T>C	c.(979-981)cTa>cCa	p.L327P	PAAF1_ENST00000310571.3_Missense_Mutation_p.L326P|PAAF1_ENST00000535604.1_Missense_Mutation_p.L211P|PAAF1_ENST00000544552.1_Missense_Mutation_p.L309P|PAAF1_ENST00000541951.1_Missense_Mutation_p.L211P|PAAF1_ENST00000536003.1_Missense_Mutation_p.L309P|PAAF1_ENST00000376384.5_Missense_Mutation_p.L309P			Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	326					interspecies interaction between organisms	proteasome complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					GCACCAGTTCTATCCCTGCTA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	120	123			NA	NA	11		NA											NA				73630036		2200	4293	6493	SO:0001583	missense			BC006142	CCDS8226.1, CCDS58157.1, CCDS58158.1	11q13.4	2013-05-21	2007-08-16	2007-08-16	ENSG00000175575	ENSG00000175575	80227	80227		WD repeat domain containing	25687	protein-coding gene	gene with protein product			WD repeat domain 71	WDR71	NA	15831487, 17317272, 17289585	Standard	NM_025155	NM_001267803	NA	Approved	FLJ11848, Rpn14	uc001ouk.2	Q9BRP4	OTTHUMG00000168062	ENST00000544909.1:c.980T>C	11.37:g.73630036T>C	ENSP00000438071:p.Leu327Pro	NA	A6NDR5|Q4G165|Q53HS9|Q7Z500|Q8TBU6|Q9HAB6	37		.	.	.	.	.	.	.	.	.	.	T	16.66	3.184042	0.57800	.	.	ENSG00000175575	ENST00000541951;ENST00000310571;ENST00000535604;ENST00000536003;ENST00000544552;ENST00000376384;ENST00000544909	T;T;T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11;2.11;2.11	4.62	4.62	0.57501	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.292711	0.23265	N	0.050091	T	0.37100	0.0991	M	0.71581	2.175	0.80722	D	1	D;D	0.64830	0.971;0.994	P;P	0.55713	0.753;0.782	T	0.11567	-1.0582	10	0.36615	T	0.2	-3.0581	13.0093	0.58722	0.0:0.0:0.0:1.0	.	309;326	Q9BRP4-2;Q9BRP4	.;PAAF1_HUMAN	P	211;326;211;309;309;309;327	ENSP00000441333:L211P;ENSP00000311665:L326P;ENSP00000438789:L211P;ENSP00000438124:L309P;ENSP00000441494:L309P;ENSP00000365564:L309P;ENSP00000438071:L327P	ENSP00000311665:L326P	L	+	2	0	PAAF1	73307684	0.998000	0.40836	0.998000	0.56505	0.995000	0.86356	3.498000	0.53302	1.949000	0.56562	0.533000	0.62120	CTA	PAAF1-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000397896.1		+	ENST00000544909.1	Missense_Mutation	SNP	11 : 73630036 - 73630036 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	241	52
GRIN2C	2905	broad.mit.edu	37	17	72843044	72843044	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72843044C>A	ENST00000293190.5	-	10	2163	c.2017G>T	c.(2017-2019)Gat>Tat	p.D673Y	GRIN2C_ENST00000347612.4_Missense_Mutation_p.D673Y	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	673					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GGGTACTGATCTTGAGGCCGC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	83	86			NA	NA	17		NA											NA				72843044		2203	4300	6503	SO:0001583	missense				CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509	2905	2905		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4587	protein-coding gene	gene with protein product		138254		NMDAR2C	NA	9480759	Standard		NM_001278553	NA	Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.2017G>T	17.37:g.72843044C>A	ENSP00000293190:p.Asp673Tyr	NA	B2RTT1	37	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307337	0.40795	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.40476	1.03	4.63	4.63	0.57726	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.228759	0.42420	D	0.000702	T	0.46367	0.1389	N	0.22421	0.69	0.58432	D	0.999996	P;D	0.56035	0.896;0.974	B;P	0.57101	0.382;0.813	T	0.51560	-0.8690	10	0.87932	D	0	.	16.7658	0.85523	0.0:1.0:0.0:0.0	.	707;673	Q8IW23;Q14957	.;NMDE3_HUMAN	Y	673;707	ENSP00000293190:D673Y	ENSP00000293190:D673Y	D	-	1	0	GRIN2C	70354639	1.000000	0.71417	0.096000	0.21009	0.899000	0.52679	7.577000	0.82486	2.548000	0.85928	0.561000	0.74099	GAT	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000103824.1		-	ENST00000293190.5	Missense_Mutation	SNP	17 : 72843044 - 72843044 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	478	35
RHPN1	114822	broad.mit.edu	37	8	144463859	144463859	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144463859G>A	ENST00000289013.6	+	13	1707	c.1606G>A	c.(1606-1608)Gct>Act	p.A536T		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	561					signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			TGTCCTCATCGCTGCCGTCAT	0.706		NA											G	6	0.0027	0.01	NA	2184	NA	0.9997	,	,	NA	3e-04	NA	NA	NA	0.0029	0.9473	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0								G	THR/ALA	13,4021		0,13,2004	22	30	28		1606	4	0.4	8		28	0,8346		0,0,4173	yes	missense	RHPN1	NM_052924.2	58	0,13,6177	AA,AG,GG	NA	0.0,0.3223,0.105	benign	536/671	144463859	13,12367	2017	4173	6190	SO:0001583	missense			AB067516	CCDS47927.1	8q24.3	2003-02-06			ENSG00000158106	ENSG00000158106	114822	114822			19973	protein-coding gene	gene with protein product		601031			NA	11572484	Standard		NM_052924	NA	Approved	KIAA1929, RHPN, ODF5	uc003yyb.3	Q8TCX5	OTTHUMG00000165006	ENST00000289013.6:c.1606G>A	8.37:g.144463859G>A	ENSP00000289013:p.Ala536Thr	NA	Q8TAV1|Q96PV9	37	CCDS47927.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	G	16.84	3.234645	0.58886	0.003223	0.0	ENSG00000158106	ENST00000289013	T	0.26223	1.75	4.83	3.96	0.45880	.	0.062452	0.64402	D	0.000005	T	0.17959	0.0431	N	0.11131	0.1	0.47374	D	0.999409	D	0.67145	0.996	P	0.60068	0.868	T	0.03354	-1.1045	10	0.22109	T	0.4	-1.6032	12.173	0.54169	0.0839:0.0:0.9161:0.0	.	536	Q8TCX5-2	.	T	536	ENSP00000289013:A536T	ENSP00000289013:A536T	A	+	1	0	RHPN1	144535002	1.000000	0.71417	0.374000	0.26016	0.918000	0.54935	4.383000	0.59600	1.029000	0.39812	0.456000	0.33151	GCT	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381417.1		+	ENST00000289013.6	Missense_Mutation	SNP	8 : 144463859 - 144463859 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	139	22
NCAPD3	23310	broad.mit.edu	37	11	134055268	134055268	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134055268G>A	ENST00000534548.2	-	17	2263	c.2199C>T	c.(2197-2199)gaC>gaT	p.D733D	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	733					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TTCTGCTGTAGTCCAGCCTGG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	61	62			NA	NA	11		NA											NA				134055268		2201	4296	6497	SO:0001819	synonymous_variant			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503	23310	23310			28952	protein-coding gene	gene with protein product		609276			NA	7584044, 8619474, 14532007	Standard	NM_015261	NM_015261	NA	Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.2199C>T	11.37:g.134055268G>A		NA	A6NFS2|Q4KMQ9	37	CCDS31723.1																																																																																			NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393575.2		-	ENST00000534548.2	Silent	SNP	11 : 134055268 - 134055268 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	179	44
RICTOR	253260	broad.mit.edu	37	5	38942978	38942978	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38942978C>T	ENST00000357387.3	-	37	5039	c.5009G>A	c.(5008-5010)cGg>cAg	p.R1670Q	RICTOR_ENST00000296782.5_Missense_Mutation_p.R1694Q	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1670					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TATGAACCTCCGACACGGAAG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	88	87			NA	NA	5		NA											NA				38942978		2203	4300	6503	SO:0001583	missense				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327	253260	253260			28611	protein-coding gene	gene with protein product	rapamycin-insensitive companion of mTOR, pianissimo	609022			NA	12477932	Standard	NM_152756	XM_005248278	NA	Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.5009G>A	5.37:g.38942978C>T	ENSP00000349959:p.Arg1670Gln	NA	B2RNX0|B7ZMF7|Q68DT5|Q86UB7|Q8N3A0|Q8NCM6	37	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	C	36	5.952747	0.97139	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.75477	-0.94;-0.87	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.86615	0.5975	M	0.71036	2.16	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.99	D	0.86546	0.1831	10	0.87932	D	0	-9.7854	20.5141	0.99211	0.0:1.0:0.0:0.0	.	1670;1694	Q6R327;Q6R327-3	RICTR_HUMAN;.	Q	1670;1694	ENSP00000349959:R1670Q;ENSP00000296782:R1694Q	ENSP00000296782:R1694Q	R	-	2	0	RICTOR	38978735	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.428000	0.80296	2.850000	0.98022	0.655000	0.94253	CGG	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366985.1		-	ENST00000357387.3	Missense_Mutation	SNP	5 : 38942978 - 38942978 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	220	50
WWP2	11060	broad.mit.edu	37	16	69922018	69922018	+	Silent	SNP	C	C	A	rs145327694		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69922018C>A	ENST00000359154.2	+	8	881	c.780C>A	c.(778-780)ccC>ccA	p.P260P	WWP2_ENST00000542271.1_Silent_p.P144P|WWP2_ENST00000356003.2_Silent_p.P260P|WWP2_ENST00000448661.1_Silent_p.P260P|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000569174.1_Silent_p.P260P	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	260					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTGCTGCACCCTTGAGTGTGA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	124	132			NA	NA	16		NA											NA				69922018		2198	4300	6498	SO:0001819	synonymous_variant			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373	11060	11060			16804	protein-coding gene	gene with protein product		602308			NA	9169421, 12167593	Standard	NM_007014	NM_007014	NA	Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.780C>A	16.37:g.69922018C>A		NA	A6NEP1|B2R706|Q96CZ2|Q9BWN6	37	CCDS10885.1																																																																																			WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268954.1		+	ENST00000359154.2	Silent	SNP	16 : 69922018 - 69922018 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	665	117
USPL1	10208	broad.mit.edu	37	13	31205600	31205600	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:31205600G>T	ENST00000255304.4	+	4	1199	c.857G>T	c.(856-858)aGt>aTt	p.S286I	USPL1_ENST00000465952.1_3'UTR	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	286					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AGTCAATTGAGTGGTGTTAAA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(60;318 1180 1554 28110 31601)							NA				0													52	54	53			NA	NA	13		NA											NA				31205600		2203	4300	6503	SO:0001583	missense			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952	10208	10208			20294	protein-coding gene	gene with protein product			chromosome 13 open reading frame 22	C13orf22	NA	22878415	Standard	NM_005800	NM_005800	NA	Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.857G>T	13.37:g.31205600G>T	ENSP00000255304:p.Ser286Ile	NA	Q14109|Q6AI45|Q8IY30|Q8IYE8	37	CCDS9336.1	.	.	.	.	.	.	.	.	.	.	G	5.836	0.338550	0.11069	.	.	ENSG00000132952	ENST00000255304	T	0.45668	0.89	5.94	2.09	0.27110	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.861583	0.10458	N	0.672337	T	0.21227	0.0511	N	0.08118	0	0.09310	N	1	P	0.38420	0.63	B	0.37198	0.243	T	0.12066	-1.0562	10	0.66056	D	0.02	-7.2908	4.059	0.09829	0.4979:0.1821:0.3201:0.0	.	286	Q5W0Q7	USPL1_HUMAN	I	286	ENSP00000255304:S286I	ENSP00000255304:S286I	S	+	2	0	USPL1	30103600	0.017000	0.18338	0.007000	0.13788	0.016000	0.09150	0.586000	0.23894	0.517000	0.28361	-0.367000	0.07326	AGT	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044369.1		+	ENST00000255304.4	Missense_Mutation	SNP	13 : 31205600 - 31205600 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	456	65
DAAM2	23500	broad.mit.edu	37	6	39851741	39851741	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39851741C>T	ENST00000398904.2	+	15	2031	c.1849C>T	c.(1849-1851)Cgt>Tgt	p.R617C	DAAM2_ENST00000274867.4_Missense_Mutation_p.R617C|DAAM2_ENST00000538976.1_Missense_Mutation_p.R617C|RP11-61I13.3_ENST00000607675.1_RNA|RP11-61I13.3_ENST00000607215.1_RNA			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	617	FH2.		R -> H (in dbSNP:rs34699846).		actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					ATTTTAGGAGCGTGTCCCTGG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	85	86			NA	NA	6		NA											NA				39851741		1960	4155	6115	SO:0001583	missense			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122	23500	23500			18143	protein-coding gene	gene with protein product		606627			NA	11779461, 12632087	Standard		NM_015345	NA	Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.1849C>T	6.37:g.39851741C>T	ENSP00000381876:p.Arg617Cys	NA	Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	37	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699144	0.68501	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.17691	2.26;2.26;2.26	5.93	4.06	0.47325	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.372678	0.29752	N	0.011281	T	0.18593	0.0446	L	0.46157	1.445	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.67725	0.94;0.953	T	0.01725	-1.1287	10	0.87932	D	0	.	7.0974	0.25317	0.2507:0.6654:0.0:0.084	.	617;617	G5EA45;Q86T65	.;DAAM2_HUMAN	C	617	ENSP00000274867:R617C;ENSP00000381876:R617C;ENSP00000437808:R617C	ENSP00000274867:R617C	R	+	1	0	DAAM2	39959719	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.359000	0.34113	1.513000	0.48852	0.561000	0.74099	CGT	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280648.1		+	ENST00000398904.2	Missense_Mutation	SNP	6 : 39851741 - 39851741 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	80	16
KPNA6	23633	broad.mit.edu	37	1	32620216	32620216	+	Missense_Mutation	SNP	A	A	G	rs141995585		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32620216A>G	ENST00000373625.3	+	2	125	c.32A>G	c.(31-33)aAt>aGt	p.N11S	KPNA6_ENST00000537234.1_Missense_Mutation_p.N8S|KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000545542.1_Missense_Mutation_p.N16S	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	11	IBB.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GGGAAAGACAATTATCGAATG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								A	SER/ASN	0,4406		0,0,2203	77	74	75		32	4.4	1	1	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	missense	KPNA6	NM_012316.4	46	0,1,6502	GG,GA,AA	NA	0.0116,0.0,0.0077	benign	11/537	32620216	1,13005	2203	4300	6503	SO:0001583	missense			AF060543	CCDS352.1	1p35.1	2013-02-14			ENSG00000025800	ENSG00000025800	23633	23633		Importins, Armadillo repeat containing	6399	protein-coding gene	gene with protein product		610563			NA	10523667	Standard	NM_012316	NM_012316	NA	Approved	IPOA7, KPNA7, MGC17918, FLJ11249	uc001bug.3	O60684	OTTHUMG00000004333	ENST00000373625.3:c.32A>G	1.37:g.32620216A>G	ENSP00000362728:p.Asn11Ser	NA	B2RDC7|D3DPP5|Q5VVU3	37	CCDS352.1	.	.	.	.	.	.	.	.	.	.	a	17.36	3.370807	0.61624	0.0	1.16E-4	ENSG00000025800	ENST00000373625;ENST00000537234;ENST00000545542	T;T;T	0.47869	0.83;0.83;0.83	5.5	4.37	0.52481	Importin-alpha, importin-beta-binding domain (2);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.39172	0.1068	L	0.45137	1.4	0.80722	D	1	B;B	0.32693	0.38;0.001	B;B	0.31946	0.138;0.009	T	0.18147	-1.0346	10	0.37606	T	0.19	-12.3149	11.4813	0.50326	0.9293:0.0:0.0707:0.0	.	16;11	F5GYL8;O60684	.;IMA7_HUMAN	S	11;8;16	ENSP00000362728:N11S;ENSP00000444930:N8S;ENSP00000440609:N16S	ENSP00000362728:N11S	N	+	2	0	KPNA6	32392803	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.119000	0.71590	1.030000	0.39839	0.533000	0.62120	AAT	KPNA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000012527.4		+	ENST00000373625.3	Missense_Mutation	SNP	1 : 32620216 - 32620216 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	23
ZFHX3	463	broad.mit.edu	37	16	72821414	72821414	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72821414C>T	ENST00000268489.5	-	10	11433	c.10761G>A	c.(10759-10761)tcG>tcA	p.S3587S	ZFHX3_ENST00000397992.5_Silent_p.S2673S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3587					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGGCAGACTGCGAGGTAGATG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													234	184	201			NA	NA	16		NA											NA				72821414		2198	4300	6498	SO:0001819	synonymous_variant			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836	463	463		Zinc fingers, C2H2-type, Homeoboxes / ZF class	777	protein-coding gene	gene with protein product		104155	AT-binding transcription factor 1	ATBF1	NA	1719379, 7592926	Standard	NM_006885	NM_006885	NA	Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10761G>A	16.37:g.72821414C>T		NA	D3DWS8|O15101|Q13719	37	CCDS10908.1																																																																																			ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269008.1		-	ENST00000268489.5	Silent	SNP	16 : 72821414 - 72821414 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	919	39
ACSM5	54988	broad.mit.edu	37	16	20422901	20422901	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20422901C>A	ENST00000331849.4	+	2	242	c.95C>A	c.(94-96)cCt>cAt	p.P32H	ACSM5_ENST00000575584.1_Missense_Mutation_p.P32H	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	32					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CTACCTGTTCCTCAGAAGATC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	75	80			NA	NA	16		NA											NA				20422901		2203	4300	6503	SO:0001583	missense				CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549	54988	54988		Acyl-CoA synthetase family	26060	protein-coding gene	gene with protein product		614361			NA	17762044	Standard	NM_017888	NM_017888	NA	Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.95C>A	16.37:g.20422901C>A	ENSP00000327916:p.Pro32His	NA	Q96AV1|Q96CX8|Q9NWV3	37	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879921	0.33162	.	.	ENSG00000183549	ENST00000331849	T	0.51817	0.69	4.69	3.74	0.42951	.	1.094530	0.07036	N	0.829339	T	0.44222	0.1283	L	0.46157	1.445	0.21355	N	0.999718	B	0.28933	0.228	B	0.29176	0.099	T	0.34527	-0.9825	10	0.34782	T	0.22	-6.7651	10.9456	0.47299	0.0:0.9118:0.0:0.0882	.	32	Q6NUN0	ACSM5_HUMAN	H	32	ENSP00000327916:P32H	ENSP00000327916:P32H	P	+	2	0	ACSM5	20330402	0.007000	0.16637	0.277000	0.24703	0.061000	0.15899	1.969000	0.40510	1.187000	0.43000	-0.140000	0.14226	CCT	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254413.1		+	ENST00000331849.4	Missense_Mutation	SNP	16 : 20422901 - 20422901 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	272	53
PVR	5817	broad.mit.edu	37	19	45150592	45150592	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45150592G>A	ENST00000425690.3	+	2	476	c.177G>A	c.(175-177)acG>acA	p.T59T	PVR_ENST00000344956.4_Silent_p.T59T|PVR_ENST00000403059.4_Silent_p.T59T|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000406449.4_Silent_p.T59T	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	59	Ig-like V-type.				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		TGGAGGTGACGCATGTGTCAC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	28	30			NA	NA	19		NA											NA				45150592		2203	4299	6502	SO:0001819	synonymous_variant			BC015542	CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1	19q13.2	2013-01-29			ENSG00000073008	ENSG00000073008	5817	5817		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	9705	protein-coding gene	gene with protein product	nectin-like 5	173850		PVS	NA	2170108	Standard	NM_006505	XM_005259120	NA	Approved	CD155, HVED, Necl-5, NECL5, Tage4	uc002ozm.3	P15151	OTTHUMG00000151527	ENST00000425690.3:c.177G>A	19.37:g.45150592G>A		NA	B4DTS9|P15152|Q15267|Q15268|Q96BJ1	37	CCDS12640.1																																																																																			PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323017.2		+	ENST00000425690.3	Silent	SNP	19 : 45150592 - 45150592 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	104	19
KCTD18	130535	broad.mit.edu	37	2	201355283	201355283	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201355283T>G	ENST00000359878.3	-	7	1331	c.821A>C	c.(820-822)aAg>aCg	p.K274T	KCTD18_ENST00000409157.1_Missense_Mutation_p.K274T	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	274						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TCTAACTGGCTTAGGACCAGT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	70	68			NA	NA	2		NA											NA				201355283		2203	4300	6503	SO:0001583	missense			AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729	130535	130535			26446	protein-coding gene	gene with protein product			potassium channel tetramerisation domain containing 18		NA		Standard	NM_152387	NM_152387	NA	Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.821A>C	2.37:g.201355283T>G	ENSP00000352941:p.Lys274Thr	NA	Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	37	CCDS2330.1	.	.	.	.	.	.	.	.	.	.	T	16.71	3.198727	0.58126	.	.	ENSG00000155729	ENST00000359878;ENST00000409157	T;T	0.54479	0.57;0.57	5.09	3.91	0.45181	.	0.086833	0.49916	N	0.000137	T	0.39489	0.1080	L	0.32530	0.975	0.35781	D	0.821628	P	0.43169	0.8	B	0.36534	0.227	T	0.54410	-0.8298	10	0.87932	D	0	-20.859	11.6997	0.51564	0.0:0.0:0.1484:0.8516	.	274	Q6PI47	KCD18_HUMAN	T	274	ENSP00000352941:K274T;ENSP00000386751:K274T	ENSP00000352941:K274T	K	-	2	0	KCTD18	201063528	1.000000	0.71417	0.976000	0.42696	0.924000	0.55760	3.977000	0.56874	0.925000	0.37094	0.533000	0.62120	AAG	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256188.1		-	ENST00000359878.3	Missense_Mutation	SNP	2 : 201355283 - 201355283 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	382	100
NAALADL2	254827	broad.mit.edu	37	3	174814871	174814871	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:174814871G>A	ENST00000454872.1	+	2	463	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	NAALADL2-AS3_ENST00000453180.1_RNA|NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	112					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CATTATACACGATCTGCACCA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	82	82			NA	NA	3		NA											NA				174814871		1868	4104	5972	SO:0001583	missense				CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694	254827	254827			23219	protein-coding gene	gene with protein product	glutamate carboxypeptidase II-type non-peptidase homologue	608806			NA	15168106	Standard	NM_207015	NM_207015	NA	Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.335G>A	3.37:g.174814871G>A	ENSP00000404705:p.Arg112Gln	NA	Q658X9|Q6H9J8|Q6H9J9|Q6PG38	37	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357573	0.61293	.	.	ENSG00000177694	ENST00000434257;ENST00000454872	T;T	0.49720	0.77;1.26	5.72	5.72	0.89469	.	0.127766	0.34156	N	0.004212	T	0.55242	0.1908	L	0.29908	0.895	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.69307	0.963;0.92	T	0.51148	-0.8742	10	0.59425	D	0.04	-24.494	13.4601	0.61223	0.0716:0.0:0.9284:0.0	.	95;112	Q58DX5-2;Q58DX5	.;NADL2_HUMAN	Q	95;112	ENSP00000409858:R95Q;ENSP00000404705:R112Q	ENSP00000409858:R95Q	R	+	2	0	NAALADL2	176297565	0.996000	0.38824	0.971000	0.41717	0.897000	0.52465	5.814000	0.69208	2.850000	0.98022	0.650000	0.86243	CGA	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347390.2		+	ENST00000454872.1	Missense_Mutation	SNP	3 : 174814871 - 174814871 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	453	95
PCDH9	5101	broad.mit.edu	37	13	67801996	67801996	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:67801996C>T	ENST00000456367.1	-	2	1263	c.577G>A	c.(577-579)Gtg>Atg	p.V193M	PCDH9_ENST00000377861.3_Missense_Mutation_p.V193M|PCDH9_ENST00000328454.5_Missense_Mutation_p.V193M|PCDH9_ENST00000544246.1_Missense_Mutation_p.V193M|PCDH9_ENST00000377865.2_Missense_Mutation_p.V193M	NM_020403.4	NP_065136.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	193	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GGAGTTTCCACGATATCCAGT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	136	136			NA	NA	13		NA											NA				67801996		2203	4300	6503	SO:0001583	missense			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226	5101	5101		Cadherins / Protocadherins : Non-clustered	8661	protein-coding gene	gene with protein product		603581			NA	9787079	Standard	NM_203487	NM_020403	NA	Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000456367.1:c.577G>A	13.37:g.67801996C>T	ENSP00000401699:p.Val193Met	NA	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	37	CCDS9443.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.470820	0.43942	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.70290	0.3207	L	0.39467	1.215	0.58432	D	0.999999	D;D;D;D	0.76494	0.997;0.999;0.998;0.999	P;D;D;D	0.66847	0.887;0.928;0.912;0.947	T	0.67749	-0.5590	10	0.52906	T	0.07	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	193;193;193;193	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	M	193	ENSP00000442186:V193M;ENSP00000367096:V193M;ENSP00000401699:V193M;ENSP00000332060:V193M;ENSP00000367092:V193M	ENSP00000332060:V193M	V	-	1	0	PCDH9	66699997	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	6.089000	0.71384	2.941000	0.99782	0.655000	0.94253	GTG	PCDH9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045214.2		-	ENST00000456367.1	Missense_Mutation	SNP	13 : 67801996 - 67801996 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	868	169
KLHL20	27252	broad.mit.edu	37	1	173744849	173744849	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173744849T>C	ENST00000209884.4	+	10	1642	c.1506T>C	c.(1504-1506)tgT>tgC	p.C502C	KLHL20_ENST00000546011.1_Silent_p.C313C	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	502					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						ACCTAGGCTGTGCAGTATATC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(159;862 2695 6559 23041)							NA				0													110	103	106			NA	NA	1		NA											NA				173744849		2203	4300	6503	SO:0001819	synonymous_variant			AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321	27252	27252		Kelch-like, BTB/POZ domain containing	25056	protein-coding gene	gene with protein product			kelch-like 20 (Drosophila)		NA	14668487, 20389280	Standard	NM_014458	NM_014458	NA	Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.1506T>C	1.37:g.173744849T>C		NA	B3KMA0|Q5TZF2|Q5ZF45|Q9H457	37	CCDS1310.1																																																																																			KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097582.1		+	ENST00000209884.4	Silent	SNP	1 : 173744849 - 173744849 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	471	75
SNX33	257364	broad.mit.edu	37	15	75942572	75942572	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75942572C>T	ENST00000308527.5	+	1	2326	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	377	BAR.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						CGTGGAAGATCGCGTGGACAC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	67	69			NA	NA	15		NA											NA				75942572		2197	4294	6491	SO:0001583	missense			AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548	257364	257364			28468	protein-coding gene	gene with protein product			SH3 and PX domain containing 3	SH3PX3	NA	16374509, 16782399, 18353773	Standard	NM_153271	NM_153271	NA	Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.1129C>T	15.37:g.75942572C>T	ENSP00000311427:p.Arg377Cys	NA		37	CCDS10283.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.813202	0.32053	.	.	ENSG00000173548	ENST00000308527	T	0.50548	0.74	5.48	5.48	0.80851	Sorting nexin protein, WASP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.63827	0.2544	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72625	0.978;0.978	T	0.65899	-0.6056	10	0.87932	D	0	-10.5611	13.3236	0.60447	0.1579:0.8421:0.0:0.0	.	377;377	B1NM17;Q8WV41	.;SNX33_HUMAN	C	377	ENSP00000311427:R377C	ENSP00000311427:R377C	R	+	1	0	SNX33	73729627	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	3.002000	0.49496	2.586000	0.87340	0.561000	0.74099	CGC	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286471.1		+	ENST00000308527.5	Missense_Mutation	SNP	15 : 75942572 - 75942572 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	389	81
ARHGAP28	79822	broad.mit.edu	37	18	6868198	6868198	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6868198C>T	ENST00000419673.2	+	5	516	c.299C>T	c.(298-300)cCg>cTg	p.P100L	ARHGAP28_ENST00000531294.1_Missense_Mutation_p.P95L|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.P100L|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.P100L|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.P82L|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.P259L|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.P259L|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.P207L	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	82					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				AATGGATCACCGGAGCCTGGA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	141	150			NA	NA	18		NA											NA				6868198		2203	4300	6503	SO:0001583	missense			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756	79822	79822		Rho GTPase activating proteins	25509	protein-coding gene	gene with protein product		610592			NA	10718198	Standard	XM_371108	NM_001010000	NA	Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000419673.2:c.299C>T	18.37:g.6868198C>T	ENSP00000392660:p.Pro100Leu	NA		37	CCDS32785.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410856	0.25465	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.07021	3.38;3.34;3.3;3.3;3.3;3.23	5.72	3.69	0.42338	.	1.798430	0.02100	N	0.053861	T	0.08223	0.0205	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.21452	0.007;0.005;0.056;0.005	B;B;B;B	0.12837	0.002;0.001;0.008;0.001	T	0.24548	-1.0157	10	0.30854	T	0.27	.	6.5227	0.22285	0.2533:0.6558:0.0:0.0909	.	259;91;100;207	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	L	259;207;100;95;100;100;91;82	ENSP00000382963:P259L;ENSP00000262227:P207L;ENSP00000392660:P100L;ENSP00000437262:P95L;ENSP00000313506:P100L;ENSP00000406907:P100L	ENSP00000262227:P207L	P	+	2	0	ARHGAP28	6858198	0.006000	0.16342	0.005000	0.12908	0.201000	0.24016	1.625000	0.37029	1.572000	0.49736	0.655000	0.94253	CCG	ARHGAP28-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395706.1		+	ENST00000419673.2	Missense_Mutation	SNP	18 : 6868198 - 6868198 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	282	34
FAT2	2196	broad.mit.edu	37	5	150947261	150947261	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150947261C>T	ENST00000261800.5	-	1	1244	c.1232G>A	c.(1231-1233)cGa>cAa	p.R411Q		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	411	Cadherin 3.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAACCCAGTTCGAGCATTAAG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	96	97			NA	NA	5		NA											NA				150947261		2203	4300	6503	SO:0001583	missense			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570	2196	2196		Cadherins / Cadherin-related	3596	protein-coding gene	gene with protein product	cadherin-related family member 9	604269	FAT tumor suppressor (Drosophila) homolog 2, FAT tumor suppressor homolog 2 (Drosophila)		NA	9693030	Standard	NM_001447	NM_001447	NA	Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1232G>A	5.37:g.150947261C>T	ENSP00000261800:p.Arg411Gln	NA	O75091|Q9NSR7	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.294508	0.23564	.	.	ENSG00000086570	ENST00000261800	T	0.60920	0.15	5.59	2.72	0.32119	Cadherin (3);Cadherin-like (1);	0.430470	0.22979	N	0.053331	T	0.34454	0.0898	L	0.37466	1.105	0.09310	N	1	P	0.37158	0.585	B	0.25140	0.058	T	0.13656	-1.0501	10	0.13108	T	0.6	.	6.1698	0.20410	0.0:0.4562:0.0:0.5437	.	411	Q9NYQ8	FAT2_HUMAN	Q	411	ENSP00000261800:R411Q	ENSP00000261800:R411Q	R	-	2	0	FAT2	150927454	1.000000	0.71417	0.414000	0.26521	0.891000	0.51852	1.743000	0.38258	0.675000	0.31264	0.561000	0.74099	CGA	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252434.1		-	ENST00000261800.5	Missense_Mutation	SNP	5 : 150947261 - 150947261 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	412	95
MARCH2	51257	broad.mit.edu	37	19	8495681	8495681	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8495681G>A	ENST00000602117.1	+	4	967	c.512G>A	c.(511-513)aGc>aAc	p.S171N	MARCH2_ENST00000215555.2_Missense_Mutation_p.S171N|MARCH2_ENST00000381035.4_Intron|MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000393944.1_Missense_Mutation_p.S171N			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	171					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						CGGCTCCACAGCCAGCTGGAG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	60	66			NA	NA	19		NA											NA				8495681		2202	4300	6502	SO:0001583	missense			AF151074	CCDS12202.1, CCDS32894.1	19p13.2	2013-01-09	2012-02-23			ENSG00000099785	51257	51257		MARCH membrane-associated ring fingers, RING-type (C3HC4) zinc fingers	28038	protein-coding gene	gene with protein product		613332	membrane-associated ring finger (C3HC4) 2		NA	11042152, 14722266	Standard	NM_016496	NM_016496	NA	Approved	HSPC240, MARCH-II, RNF172	uc002mjw.3	Q9P0N8		ENST00000602117.1:c.512G>A	19.37:g.8495681G>A	ENSP00000471536:p.Ser171Asn	NA	A6NP10|Q5H785|Q8N5A3|Q96B78	37	CCDS12202.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.988397	0.53934	.	.	ENSG00000099785	ENST00000393944;ENST00000215555	T;T	0.18960	2.18;2.18	4.26	4.26	0.50523	.	0.204126	0.49305	D	0.000147	T	0.27559	0.0677	M	0.68952	2.095	0.80722	D	1	D	0.53151	0.958	P	0.45343	0.477	T	0.07366	-1.0776	10	0.22706	T	0.39	-29.9527	15.7466	0.77949	0.0:0.0:1.0:0.0	.	171	Q9P0N8	MARH2_HUMAN	N	171	ENSP00000377518:S171N;ENSP00000215555:S171N	ENSP00000215555:S171N	S	+	2	0	MARCH2	8401681	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.745000	0.85046	2.364000	0.80123	0.448000	0.29417	AGC	MARCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460361.2		+	ENST00000602117.1	Missense_Mutation	SNP	19 : 8495681 - 8495681 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	258	45
ITGA8	8516	broad.mit.edu	37	10	15697376	15697376	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15697376G>A	ENST00000378076.3	-	11	1331	c.978C>T	c.(976-978)gtC>gtT	p.V326V		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	326					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CATCTGATACGACAACGGTAT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	146	149			NA	NA	10		NA											NA				15697376		2203	4300	6503	SO:0001819	synonymous_variant			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943	8516	8516		Integrins	6144	protein-coding gene	gene with protein product		604063			NA	7768999	Standard	NM_003638	XM_005252633	NA	Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.978C>T	10.37:g.15697376G>A		NA	B0YJ31|Q5VX94	37	CCDS31155.1																																																																																			ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046987.1		-	ENST00000378076.3	Silent	SNP	10 : 15697376 - 15697376 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	510	79
ZNF71	58491	broad.mit.edu	37	19	57133900	57133900	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57133900C>T	ENST00000328070.6	+	3	1479	c.1245C>T	c.(1243-1245)tgC>tgT	p.C415C		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	415						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GCGGCGAGTGCGGCAAGGCCT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	71	76			NA	NA	19		NA											NA				57133900		2203	4300	6503	SO:0001819	synonymous_variant			X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951	58491	58491		Zinc fingers, C2H2-type	13141	protein-coding gene	gene with protein product		194545	zinc finger protein 71 (Cos26)		NA	1639391	Standard	NM_021216	NM_021216	NA	Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.1245C>T	19.37:g.57133900C>T		NA	Q15919|Q9UC09|Q9UQD3	37	CCDS12947.1																																																																																			ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459798.2		+	ENST00000328070.6	Silent	SNP	19 : 57133900 - 57133900 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	429	77
SIGLEC8	27181	broad.mit.edu	37	19	51957546	51957546	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51957546G>A	ENST00000321424.3	-	6	1238	c.1172C>T	c.(1171-1173)tCg>tTg	p.S391L	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.S282L|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.S298L	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	391					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGGCCTTGCCGATTTCTTCCT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	95	98			NA	NA	19		NA											NA				51957546		2203	4300	6503	SO:0001583	missense			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366	27181	27181		Sialic acid binding Ig-like lectins, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	10877	protein-coding gene	gene with protein product		605639			NA	10625619	Standard	NM_014442	XR_243922	NA	Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.1172C>T	19.37:g.51957546G>A	ENSP00000321077:p.Ser391Leu	NA	Q7Z728	37	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	12.55	1.970335	0.34754	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.62941	1.35;-0.01;1.1	1.91	0.861	0.19048	.	.	.	.	.	T	0.58892	0.2154	L	0.53249	1.67	0.09310	N	1	P;D;D	0.67145	0.552;0.996;0.974	B;P;B	0.50617	0.067;0.646;0.184	T	0.48433	-0.9036	9	0.40728	T	0.16	.	4.1592	0.10275	0.2124:0.0:0.7876:0.0	.	282;298;391	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	L	282;391;298	ENSP00000389142:S282L;ENSP00000321077:S391L;ENSP00000339448:S298L	ENSP00000321077:S391L	S	-	2	0	SIGLEC8	56649358	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.075000	0.14686	0.366000	0.24427	0.502000	0.49764	TCG	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463648.2		-	ENST00000321424.3	Missense_Mutation	SNP	19 : 51957546 - 51957546 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	717	114
EPHX3	79852	broad.mit.edu	37	19	15342604	15342604	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15342604G>A	ENST00000221730.3	-	2	532	c.312C>T	c.(310-312)caC>caT	p.H104H	EPHX3_ENST00000435261.1_Silent_p.H104H|EPHX3_ENST00000602233.1_Silent_p.H104H	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	104						extracellular region	hydrolase activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CAGGGAAGCCGTGCAGAAACA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	69	68			NA	NA	19		NA											NA				15342604		2203	4300	6503	SO:0001819	synonymous_variant			AK026061	CCDS12327.1	19p13.13	2011-10-05	2009-04-06	2009-04-06	ENSG00000105131	ENSG00000105131	79852	79852		Abhydrolase domain containing	23760	protein-coding gene	gene with protein product			abhydrolase domain containing 9	ABHD9	NA		Standard	NM_024794	NM_024794	NA	Approved	FLJ22408	uc002nap.3	Q9H6B9		ENST00000221730.3:c.312C>T	19.37:g.15342604G>A		NA	A3KMR3	37	CCDS12327.1																																																																																			EPHX3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465797.1		-	ENST00000221730.3	Silent	SNP	19 : 15342604 - 15342604 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	473	78
ZHX3	23051	broad.mit.edu	37	20	39833400	39833400	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:39833400C>A	ENST00000309060.3	-	4	572	c.157G>T	c.(157-159)Gca>Tca	p.A53S	ZHX3_ENST00000560361.1_Missense_Mutation_p.A53S|ZHX3_ENST00000432768.2_Missense_Mutation_p.A53S|ZHX3_ENST00000540170.1_Missense_Mutation_p.A53S|ZHX3_ENST00000544979.2_Missense_Mutation_p.A53S|ZHX3_ENST00000558993.1_Missense_Mutation_p.A53S|ZHX3_ENST00000559234.1_Missense_Mutation_p.A53S|ZHX3_ENST00000557816.1_Missense_Mutation_p.A53S			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	53	Required for nuclear localization.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				GGGTTCTGTGCTGCCTCACTG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	102	103			NA	NA	20		NA											NA				39833400		2203	4300	6503	SO:0001583	missense			AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306	23051	23051		Zinc fingers, C2H2-type, Homeoboxes / ZF class	15935	protein-coding gene	gene with protein product		609598	triple homeobox 1	TIX1	NA	9455477	Standard	NM_015035	XM_005260343	NA	Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.157G>T	20.37:g.39833400C>A	ENSP00000312222:p.Ala53Ser	NA	E1P5W5|O43145	37	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329175	0.24167	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000432768;ENST00000441102;ENST00000419740;ENST00000373261;ENST00000436440	T;T;T;T;T	0.30182	1.54;2.97;2.97;2.75;1.54	5.61	2.6	0.31112	.	1.295780	0.04841	N	0.440561	T	0.21841	0.0526	N	0.25426	0.745	0.09310	N	1	B;B;B;P	0.38827	0.001;0.002;0.037;0.649	B;B;B;B	0.38428	0.007;0.007;0.02;0.273	T	0.07888	-1.0749	10	0.02654	T	1	-5.3323	10.506	0.44834	0.0:0.7867:0.0:0.2133	.	53;53;53;53	A8K8Q0;Q9H4I2;F5H820;F6R4Q5	.;ZHX3_HUMAN;.;.	S	53	ENSP00000312222:A53S;ENSP00000362360:A53S;ENSP00000442290:A53S;ENSP00000443783:A53S;ENSP00000415498:A53S	ENSP00000312222:A53S	A	-	1	0	ZHX3	39266814	0.000000	0.05858	0.011000	0.14972	0.018000	0.09664	0.353000	0.20130	0.309000	0.22966	-0.140000	0.14226	GCA	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079262.3		-	ENST00000309060.3	Missense_Mutation	SNP	20 : 39833400 - 39833400 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	606	106
RASGEF1A	221002	broad.mit.edu	37	10	43694616	43694616	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43694616G>A	ENST00000395809.1	-	8	3382	c.876C>T	c.(874-876)cgC>cgT	p.R292R	RASGEF1A_ENST00000395810.1_Silent_p.R292R|RASGEF1A_ENST00000374459.1_Silent_p.R300R			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	292	Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						ACTCCAACATGCGGGTCCGGT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	57	59			NA	NA	10		NA											NA				43694616		2203	4300	6503	SO:0001819	synonymous_variant			AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915	221002	221002			24246	protein-coding gene	gene with protein product		614531			NA	12477932	Standard	NM_145313	XM_005271808	NA	Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.876C>T	10.37:g.43694616G>A		NA	Q8TBF1	37	CCDS7202.2	.	.	.	.	.	.	.	.	.	.	G	10.74	1.435865	0.25813	.	.	ENSG00000198915	ENST00000374455	.	.	.	5.45	-2.48	0.06423	.	.	.	.	.	T	0.42017	0.1184	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33343	-0.9872	4	.	.	.	.	3.3471	0.07139	0.0784:0.2701:0.2189:0.4325	.	.	.	.	Y	194	.	.	H	-	1	0	RASGEF1A	43014622	1.000000	0.71417	0.986000	0.45419	0.993000	0.82548	1.945000	0.40273	-0.255000	0.09486	-0.176000	0.13171	CAT	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313989.1		-	ENST00000395809.1	Silent	SNP	10 : 43694616 - 43694616 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	127	26
CHRM2	1129	broad.mit.edu	37	7	136700546	136700546	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:136700546C>A	ENST00000445907.2	+	3	1462	c.934C>A	c.(934-936)Ctg>Atg	p.L312M	hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.L312M|CHRM2_ENST00000402486.3_Missense_Mutation_p.L312M|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.L312M|CHRM2_ENST00000453373.1_Missense_Mutation_p.L312M|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.L312M|hsa-mir-490_ENST00000592183.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	312					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TTCCACTTCCCTGGGCCATTC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	92	91			NA	NA	7		NA											NA				136700546		2203	4300	6503	SO:0001583	missense				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072	1129	1129		Cholinergic receptors, GPCR / Class A : Cholinergic receptors, muscarinic	1951	protein-coding gene	gene with protein product	acetylcholine receptor, muscarinic 2	118493			NA		Standard		NM_000739	NA	Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.934C>A	7.37:g.136700546C>A	ENSP00000399745:p.Leu312Met	NA	Q4VBK6|Q9P1X9	37	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	C	7.757	0.704479	0.15172	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06;0.06	5.4	0.492	0.16872	GPCR, rhodopsin-like superfamily (1);	0.571088	0.16953	N	0.192800	T	0.48021	0.1477	N	0.24115	0.695	0.23144	N	0.998226	P	0.38195	0.622	P	0.44359	0.447	T	0.37619	-0.9698	10	0.41790	T	0.15	-4.2629	5.6681	0.17707	0.0:0.5294:0.1257:0.3449	.	312	P08172	ACM2_HUMAN	M	312	ENSP00000399745:L312M;ENSP00000415386:L312M;ENSP00000319984:L312M;ENSP00000380733:L312M;ENSP00000384937:L312M;ENSP00000384401:L312M	ENSP00000319984:L312M	L	+	1	2	CHRM2	136351086	0.410000	0.25376	0.958000	0.39756	0.990000	0.78478	0.015000	0.13355	-0.191000	0.10448	0.655000	0.94253	CTG	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341010.1		+	ENST00000445907.2	Missense_Mutation	SNP	7 : 136700546 - 136700546 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	445	78
TTF1	7270	broad.mit.edu	37	9	135277186	135277186	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135277186G>T	ENST00000334270.2	-	2	1062	c.1023C>A	c.(1021-1023)caC>caA	p.H341Q		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	341					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CAAATTCCTGGTGATTGGACT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	110	110			NA	NA	9		NA											NA				135277186		2203	4300	6503	SO:0001583	missense			BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482	7270	7270			12397	protein-coding gene	gene with protein product		600777			NA	7597036	Standard	NM_007344	NM_007344	NA	Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.1023C>A	9.37:g.135277186G>T	ENSP00000333920:p.His341Gln	NA	A1L160|Q4VXF3|Q58EY2|Q6P5T5	37	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	G	5.186	0.219808	0.09863	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.09163	3.01	3.1	2.06	0.26882	.	1.752520	0.02938	N	0.140098	T	0.09024	0.0223	L	0.29908	0.895	0.09310	N	1	B	0.15719	0.014	B	0.15870	0.014	T	0.31752	-0.9932	10	0.15066	T	0.55	.	6.7339	0.23399	0.0:0.0:0.7202:0.2798	.	341	Q15361	TTF1_HUMAN	Q	341	ENSP00000333920:H341Q	ENSP00000245588:H341Q	H	-	3	2	TTF1	134267007	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	0.228000	0.17814	1.415000	0.47037	0.313000	0.20887	CAC	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054784.2		-	ENST00000334270.2	Missense_Mutation	SNP	9 : 135277186 - 135277186 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	917	135
DRC1	92749	broad.mit.edu	37	2	26667147	26667147	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26667147T>C	ENST00000288710.2	+	9	1160	c.1086T>C	c.(1084-1086)ttT>ttC	p.F362F	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1	NA											NA						TAAAGCAGTTTCAGGAGGAGA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	101	105			NA	NA	2		NA											NA				26667147		2203	4300	6503	SO:0001819	synonymous_variant			AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856	92749	92749			24245	protein-coding gene	gene with protein product		615288	chromosome 2 open reading frame 39, coiled-coil domain containing 164, dynein regulatory complex subunit 1 homolog (Chlamydomonas)	C2orf39, CCDC164	NA	23354437	Standard	NM_145038	NM_145038	NA	Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.1086T>C	2.37:g.26667147T>C		NA		37	CCDS1723.1																																																																																			DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000246862.1		+	ENST00000288710.2	Silent	SNP	2 : 26667147 - 26667147 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	344	15
ZDHHC1	29800	broad.mit.edu	37	16	67429051	67429051	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67429051A>C	ENST00000348579.2	-	10	1425	c.1084T>G	c.(1084-1086)Tgg>Ggg	p.W362G	ZDHHC1_ENST00000566075.1_Intron	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	362						integral to membrane	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		TTTCTATCCCACTCCACCTGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	22	21			NA	NA	16		NA											NA				67429051		2198	4300	6498	SO:0001583	missense			U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714	29800	29800		Zinc fingers, DHHC-type	17916	protein-coding gene	gene with protein product			chromosome 16 open reading frame 1	C16orf1	NA	10395086	Standard	NM_013304	NM_013304	NA	Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.1084T>G	16.37:g.67429051A>C	ENSP00000340299:p.Trp362Gly	NA	O15461	37	CCDS10836.1	.	.	.	.	.	.	.	.	.	.	A	8.028	0.761202	0.15914	.	.	ENSG00000159714	ENST00000348579	T	0.36340	1.26	3.72	0.533	0.17121	.	16.041100	0.00166	N	0.000000	T	0.20941	0.0504	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09640	-1.0665	10	0.20519	T	0.43	.	3.3198	0.07047	0.2081:0.5612:0.0:0.2307	.	362	Q8WTX9	ZDHC1_HUMAN	G	362	ENSP00000340299:W362G	ENSP00000340299:W362G	W	-	1	0	ZDHHC1	65986552	0.000000	0.05858	0.048000	0.18961	0.081000	0.17604	-0.240000	0.08952	0.050000	0.15949	-0.302000	0.09304	TGG	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268845.1		-	ENST00000348579.2	Missense_Mutation	SNP	16 : 67429051 - 67429051 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	167	24
ZCCHC11	23318	broad.mit.edu	37	1	52991459	52991459	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52991459C>T	ENST00000371544.3	-	2	756	c.494G>A	c.(493-495)aGt>aAt	p.S165N	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.S165N|ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000355809.4_Missense_Mutation_p.S165N	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	165					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CAACAGTAAACTGGGTCCCTT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													188	195	192			NA	NA	1		NA											NA				52991459		2203	4300	6503	SO:0001583	missense			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744	23318	23318		Zinc fingers, CCHC domain containing	28981	protein-coding gene	gene with protein product	TUTase4	613692			NA	8724849, 12239557	Standard	XM_038288	NM_015269	NA	Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.494G>A	1.37:g.52991459C>T	ENSP00000360599:p.Ser165Asn	NA	A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	37	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	C	7.437	0.639883	0.14386	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000355809	T;T;T	0.51574	0.7;0.81;0.8	4.58	2.61	0.31194	.	1.264840	0.05126	N	0.491576	T	0.37293	0.0998	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.12013	0.001;0.001;0.005;0.0	B;B;B;B	0.09377	0.001;0.004;0.004;0.002	T	0.22277	-1.0221	10	0.31617	T	0.26	.	6.7983	0.23736	0.0:0.7609:0.0:0.2391	.	165;165;165;165	E9PKY2;Q5TAX3-2;E9PRG2;Q5TAX3	.;.;.;TUT4_HUMAN	N	165	ENSP00000257177:S165N;ENSP00000360599:S165N;ENSP00000433486:S165N	ENSP00000257177:S165N	S	-	2	0	ZCCHC11	52764047	0.009000	0.17119	0.289000	0.24876	0.924000	0.55760	-0.119000	0.10676	0.572000	0.29383	0.655000	0.94253	AGT	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022462.1		-	ENST00000371544.3	Missense_Mutation	SNP	1 : 52991459 - 52991459 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1188	130
DUSP16	80824	broad.mit.edu	37	12	12630240	12630240	+	Missense_Mutation	SNP	C	C	T	rs149400013	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12630240C>T	ENST00000228862.2	-	7	2156	c.1525G>A	c.(1525-1527)Gtg>Atg	p.V509M	DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	509					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.V509M(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		TTGTCCTCCACGCTCCCACTT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(158;443 1896 15437 36069 46477)							NA				1	Substitution - Missense(1)	endometrium(1)						C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	59	58	58		1525	4.3	1	12	dbSNP_134	58	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DUSP16	NM_030640.2	21	0,2,6501	TT,TC,CC	NA	0.0116,0.0227,0.0154	benign	509/666	12630240	2,13004	2203	4300	6503	SO:0001583	missense			AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266	80824	80824		Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases	17909	protein-coding gene	gene with protein product	MAPK phosphatase-7	607175			NA	11359773, 11489891, 15888437	Standard	NM_030640	NM_030640	NA	Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.1525G>A	12.37:g.12630240C>T	ENSP00000228862:p.Val509Met	NA	Q547C7|Q9C0G3	37	CCDS8650.1	.	.	.	.	.	.	.	.	.	.	C	8.162	0.789841	0.16258	2.27E-4	1.16E-4	ENSG00000111266	ENST00000228862	T	0.01963	4.53	5.21	4.32	0.51571	.	0.462115	0.19659	N	0.109008	T	0.01661	0.0053	L	0.31065	0.9	0.80722	D	1	P;P	0.36315	0.487;0.547	B;B	0.18263	0.015;0.021	T	0.64711	-0.6343	10	0.37606	T	0.19	.	8.5603	0.33507	0.0:0.7711:0.0:0.2289	.	509;509	Q9BY84;Q96N49	DUS16_HUMAN;.	M	509	ENSP00000228862:V509M	ENSP00000228862:V509M	V	-	1	0	DUSP16	12521507	0.380000	0.25131	0.982000	0.44146	0.714000	0.41099	0.323000	0.19593	1.423000	0.47198	0.655000	0.94253	GTG	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400311.1		-	ENST00000228862.2	Missense_Mutation	SNP	12 : 12630240 - 12630240 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	477	79
TRRAP	8295	broad.mit.edu	37	7	98535441	98535441	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98535441A>G	ENST00000446306.3	+	29	4460	c.4399A>G	c.(4399-4401)Atg>Gtg	p.M1467V	TRRAP_ENST00000355540.3_Missense_Mutation_p.M1468V|TRRAP_ENST00000359863.4_Missense_Mutation_p.M1468V			Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1468					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGATCAGATGATGGTAAGCCA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	39	42			NA	NA	7		NA											NA				98535441		2203	4300	6503	SO:0001583	missense			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367	8295	8295			12347	protein-coding gene	gene with protein product		603015			NA	9708738, 9885574	Standard	NM_003496	NM_003496	NA	Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000446306.3:c.4399A>G	7.37:g.98535441A>G	ENSP00000403708:p.Met1467Val	NA	A4D265|O75218|Q9Y631|Q9Y6H4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.10|18.10	3.547699|3.547699	0.65311|0.65311	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.63417|.	-0.04;-0.04|.	6.08|6.08	6.08|6.08	0.98989|0.98989	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.56804|.	0.2010|.	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	B;B;B|.	0.26775|.	0.159;0.065;0.122|.	B;B;B|.	0.23018|.	0.043;0.016;0.029|.	T|.	0.52533|.	-0.8563|.	10|.	0.87932|.	D|.	0|.	.|.	16.6438|16.6438	0.85155|0.85155	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1468;1182;1468|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	V|W	1468;1468;1466|1182	ENSP00000352925:M1468V;ENSP00000347733:M1468V|.	ENSP00000347733:M1468V|.	M|X	+|+	1|3	0|0	TRRAP|TRRAP	98373377|98373377	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.224000|9.224000	0.95209|0.95209	2.333000|2.333000	0.79357|0.79357	0.533000|0.533000	0.62120|0.62120	ATG|TGA	TRRAP-004	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000317981.3		+	ENST00000446306.3	Missense_Mutation	SNP	7 : 98535441 - 98535441 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	213	43
PCDHGB6	56100	broad.mit.edu	37	5	140788005	140788005	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140788005C>T	ENST00000520790.1	+	1	236	c.236C>T	c.(235-237)gCg>gTg	p.A79V	PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1			protocadherin gamma subfamily B, 6	NA										breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGTAGACGCGGAGAGCGGG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	134	132			NA	NA	5		NA											NA				140788005		1958	4148	6106	SO:0001583	missense			AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305	56100	56100		Cadherins / Protocadherins : Clustered	8713	other	protocadherin		606303			NA	10380929	Standard	NM_018926	NM_018926	NA	Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.236C>T	5.37:g.140788005C>T	ENSP00000428603:p.Ala79Val	NA		37	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	c	9.378	1.072243	0.20147	.	.	ENSG00000253305	ENST00000520790	T	0.38722	1.12	5.38	0.674	0.17946	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.31358	0.0794	L	0.42008	1.315	0.09310	N	1	P;P	0.46952	0.813;0.887	B;B	0.43658	0.426;0.3	T	0.17868	-1.0355	9	0.13470	T	0.59	.	6.4485	0.21890	0.0:0.4606:0.2178:0.3216	.	79;79	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	V	79	ENSP00000428603:A79V	ENSP00000428603:A79V	A	+	2	0	PCDHGB6	140768189	0.000000	0.05858	0.942000	0.38095	0.936000	0.57629	-3.008000	0.00649	-0.082000	0.12640	0.467000	0.42956	GCG	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374746.1		+	ENST00000520790.1	Missense_Mutation	SNP	5 : 140788005 - 140788005 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	616	129
NKX2-2	4821	broad.mit.edu	37	20	21494152	21494152	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21494152G>A	ENST00000377142.4	-	1	512	c.156C>T	c.(154-156)gcC>gcT	p.A52A		NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	52					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCGCGTCCAGGGCGCCCTGCC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	31	32			NA	NA	20		NA											NA				21494152		2201	4299	6500	SO:0001819	synonymous_variant			AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820	4821	4821		Homeoboxes / ANTP class : NKL subclass	7835	protein-coding gene	gene with protein product		604612	NK-2 (Drosophila) homolog B, NK2 transcription factor related, locus 2 (Drosophila)	NKX2B	NA	9703340, 1346742	Standard		NM_002509	NA	Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.156C>T	20.37:g.21494152G>A		NA		37	CCDS13145.1																																																																																			NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078278.9		-	ENST00000377142.4	Silent	SNP	20 : 21494152 - 21494152 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	230	53
INA	9118	broad.mit.edu	37	10	105037253	105037253	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105037253G>T	ENST00000369849.4	+	1	334	c.285G>T	c.(283-285)aaG>aaT	p.K95N		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	95	Coil 1A.|Rod.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CCAACGAGAAGGAGCAGCTGC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	31	31			NA	NA	10		NA											NA				105037253		2146	4177	6323	SO:0001583	missense			S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798	9118	9118		Intermediate filaments type IV	6057	protein-coding gene	gene with protein product		605338		NEF5	NA	7769995	Standard	NM_032727	NM_032727	NA	Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.285G>T	10.37:g.105037253G>T	ENSP00000358865:p.Lys95Asn	NA	B1AQK0|Q9BRC5	37	CCDS7545.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949929	0.73787	.	.	ENSG00000148798	ENST00000369849	D	0.93547	-3.24	4.03	2.15	0.27550	Filament (1);	0.000000	0.85682	D	0.000000	D	0.97704	0.9247	H	0.98883	4.36	0.45704	D	0.998619	D	0.89917	1.0	D	0.79108	0.992	D	0.96865	0.9635	10	0.87932	D	0	.	9.5962	0.39576	0.1916:0.0:0.8084:0.0	.	95	Q16352	AINX_HUMAN	N	95	ENSP00000358865:K95N	ENSP00000358865:K95N	K	+	3	2	INA	105027243	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.345000	0.65987	1.032000	0.39892	0.462000	0.41574	AAG	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050145.1		+	ENST00000369849.4	Missense_Mutation	SNP	10 : 105037253 - 105037253 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	255	29
THBS2	7058	broad.mit.edu	37	6	169632164	169632164	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:169632164C>T	ENST00000366787.3	-	14	2311	c.2062G>A	c.(2062-2064)Ggg>Agg	p.G688R	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	688	EGF-like 3.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CAGATGAGCCCGTCGCCCGCG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(91;219 1934 18562 44706)							NA				0													137	114	122			NA	NA	6		NA											NA				169632164		2203	4300	6503	SO:0001583	missense				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340	7058	7058			11786	protein-coding gene	gene with protein product		188061			NA	18455130	Standard	NM_003247	NM_003247	NA	Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2062G>A	6.37:g.169632164C>T	ENSP00000355751:p.Gly688Arg	NA	A6H8N1|A7E232|Q5RI52	37	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875947	0.91664	.	.	ENSG00000186340	ENST00000366787	D	0.99909	-7.85	4.15	4.15	0.48705	EGF domain, merozoite surface protein 1-like (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.41605	U	0.000848	D	0.99951	0.9979	H	0.99197	4.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95721	0.8766	10	0.87932	D	0	-35.7145	16.7836	0.85568	0.0:1.0:0.0:0.0	.	688	P35442	TSP2_HUMAN	R	688	ENSP00000355751:G688R	ENSP00000355751:G688R	G	-	1	0	THBS2	169374089	1.000000	0.71417	0.992000	0.48379	0.926000	0.56050	7.304000	0.78882	2.016000	0.59253	0.297000	0.19635	GGG	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000105439.1		-	ENST00000366787.3	Missense_Mutation	SNP	6 : 169632164 - 169632164 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	535	94
MUC4	4585	broad.mit.edu	37	3	195486010	195486010	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195486010C>T	ENST00000463781.3	-	17	15430	c.14971G>A	c.(14971-14973)Gac>Aac	p.D4991N	MUC4_ENST00000475231.1_Missense_Mutation_p.D4939N|MUC4_ENST00000349607.4_Missense_Mutation_p.D704N|MUC4_ENST00000346145.4_Missense_Mutation_p.D755N	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1748					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGCTCCAAGTCGGTGCAGCTG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													238	233	235			NA	NA	3		NA											NA				195486010		2203	4300	6503	SO:0001583	missense			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113	4585	4585		Mucins	7514	protein-coding gene	gene with protein product		158372	mucin 4, tracheobronchial		NA	1673336	Standard	NM_018406	NM_004532	NA	Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.14971G>A	3.37:g.195486010C>T	ENSP00000417498:p.Asp4991Asn	NA	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	.	9.154	1.017007	0.19355	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.38560	1.13;1.49;1.48;1.45	4.39	1.54	0.23209	.	1.090690	0.07014	N	0.825628	T	0.32041	0.0816	L	0.52364	1.645	0.09310	N	1	P;P;P;P;P;P	0.49253	0.663;0.469;0.469;0.58;0.58;0.921	B;B;B;B;B;B	0.39217	0.153;0.069;0.069;0.056;0.056;0.294	T	0.24225	-1.0166	10	0.34782	T	0.22	-8.7228	3.1604	0.06518	0.2124:0.5678:0.0:0.2198	.	4863;704;755;4991;4939;1696	E7ESK3;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;.;.;.;.;.	N	704;755;4991;4939;1491	ENSP00000338109:D704N;ENSP00000304207:D755N;ENSP00000417498:D4991N;ENSP00000420243:D4939N	ENSP00000304207:D755N	D	-	1	0	MUC4	196971681	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	0.222000	0.17699	0.571000	0.29365	0.450000	0.29827	GAC	MUC4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324081.6		-	ENST00000463781.3	Missense_Mutation	SNP	3 : 195486010 - 195486010 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1711	329
SHROOM3	57619	broad.mit.edu	37	4	77675938	77675938	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77675938C>T	ENST00000296043.6	+	7	5255	c.4302C>T	c.(4300-4302)gcC>gcT	p.A1434A		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1434					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CAAAGTGGGCCCACGCAGCCA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	45	47			NA	NA	4		NA											NA				77675938		2203	4300	6503	SO:0001819	synonymous_variant			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771	57619	57619			30422	protein-coding gene	gene with protein product		604570			NA	10589677, 16615870	Standard	NM_020859	NM_020859	NA	Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.4302C>T	4.37:g.77675938C>T		NA	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	37	CCDS3579.2																																																																																			SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252408.2		+	ENST00000296043.6	Silent	SNP	4 : 77675938 - 77675938 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	219	43
KCNT2	343450	broad.mit.edu	37	1	196254830	196254830	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196254830C>A	ENST00000367433.5	-	22	2683	c.2582G>T	c.(2581-2583)gGg>gTg	p.G861V	KCNT2_ENST00000294725.9_Missense_Mutation_p.G885V|KCNT2_ENST00000367431.4_Missense_Mutation_p.G811V|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.G811V	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	885						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AAACACCCTCCCAGCAGCAAA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	83	84			NA	NA	1		NA											NA				196254830		2203	4300	6503	SO:0001583	missense			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687	343450	343450		Potassium channels, Voltage-gated ion channels / Potassium channels, calcium-activated	18866	protein-coding gene	gene with protein product	sodium and chloride activated ATP sensitive potassium channel	610044			NA	16382103	Standard	NM_198503	NM_198503	NA	Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000367433.5:c.2582G>T	1.37:g.196254830C>A	ENSP00000356403:p.Gly861Val	NA	Q3SY59|Q5VTN1|Q6ZMT3	37		.	.	.	.	.	.	.	.	.	.	C	25.0	4.588233	0.86851	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.78707	-1.2;-1.2;-1.2	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000003	D	0.90164	0.6926	M	0.88906	2.99	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.996;1.0;0.999;0.999	D;D;D;D;D	0.74023	0.935;0.982;0.971;0.982;0.935	D	0.91274	0.5046	10	0.87932	D	0	-17.9902	18.8872	0.92383	0.0:1.0:0.0:0.0	.	885;843;861;811;885	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	V	861;811;885	ENSP00000356403:G861V;ENSP00000356401:G811V;ENSP00000294725:G885V	ENSP00000294725:G885V	G	-	2	0	KCNT2	194521453	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	7.201000	0.77847	2.835000	0.97688	0.591000	0.81541	GGG	KCNT2-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000086419.1		-	ENST00000367433.5	Missense_Mutation	SNP	1 : 196254830 - 196254830 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	240	9
USP54	159195	broad.mit.edu	37	10	75277367	75277367	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75277367C>T	ENST00000339859.4	-	19	2917	c.2817G>A	c.(2815-2817)gaG>gaA	p.E939E	RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000422491.2_Silent_p.E121E|USP54_ENST00000408019.1_Silent_p.E939E|RP11-137L10.6_ENST00000595069.1_RNA|USP54_ENST00000428547.1_Silent_p.E789E|RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000394811.2_Silent_p.E27E			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	939					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GGGCAGATGACTCTGGAGATA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(195;880 2046 8854 25025 38456)							NA				0													79	72	75			NA	NA	10		NA											NA				75277367		2203	4300	6503	SO:0001819	synonymous_variant			AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348	159195	159195		Ubiquitin-specific peptidases	23513	protein-coding gene	gene with protein product			chromosome 10 open reading frame 29, ubiquitin specific protease 54	C10orf29	NA	14715245	Standard	NM_152586	NM_152586	NA	Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.2817G>A	10.37:g.75277367C>T		NA	A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	37	CCDS7329.2																																																																																			USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316563.2		-	ENST00000339859.4	Silent	SNP	10 : 75277367 - 75277367 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	248	54
TCHH	7062	broad.mit.edu	37	1	152080423	152080423	+	Missense_Mutation	SNP	G	G	A	rs71585886		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152080423G>A	ENST00000368804.1	-	2	5269	c.5270C>T	c.(5269-5271)cCg>cTg	p.P1757L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1757	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCCTTTCCGGACGGAGCTG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	52	52			NA	NA	1		NA											NA				152080423		1900	4114	6014	SO:0001583	missense			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450	7062	7062		EF-hand domain containing	11791	protein-coding gene	gene with protein product		190370		THH	NA	1431214	Standard	NM_007113	NM_007113	NA	Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.5270C>T	1.37:g.152080423G>A	ENSP00000357794:p.Pro1757Leu	NA	Q5VUI3	37	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	T	14.74	2.626138	0.46840	.	.	ENSG00000159450	ENST00000368804	T	0.04360	3.64	3.76	-0.218	0.13142	.	.	.	.	.	T	0.00815	0.0027	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48692	-0.9013	9	0.33141	T	0.24	.	1.2456	0.01972	0.2985:0.0925:0.1541:0.4549	.	1757	Q07283	TRHY_HUMAN	L	1757	ENSP00000357794:P1757L	ENSP00000357794:P1757L	P	-	2	0	TCHH	150347047	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-0.629000	0.05575	-0.824000	0.03097	CCG	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000036671.2		-	ENST00000368804.1	Missense_Mutation	SNP	1 : 152080423 - 152080423 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	608	22
MC5R	4161	broad.mit.edu	37	18	13826258	13826258	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13826258G>A	ENST00000324750.3	+	1	716	c.494G>A	c.(493-495)gGc>gAc	p.G165D		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	165					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						ATCATCGCCGGCATCTGGGCT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													268	243	252			NA	NA	18		NA											NA				13826258		2203	4300	6503	SO:0001583	missense			AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136	4161	4161		GPCR / Class A : Melanocortin receptors	6933	protein-coding gene	gene with protein product		600042			NA	8396929	Standard	NM_005913	NM_005913	NA	Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.494G>A	18.37:g.13826258G>A	ENSP00000318077:p.Gly165Asp	NA	B0YJ34|Q502V1	37	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944955	0.34283	.	.	ENSG00000176136	ENST00000324750	T	0.39787	1.06	5.01	3.14	0.36123	GPCR, rhodopsin-like superfamily (1);	0.150554	0.64402	D	0.000011	T	0.52075	0.1712	M	0.81341	2.54	0.33894	D	0.637674	P	0.44006	0.824	P	0.46299	0.511	T	0.69154	-0.5220	10	0.87932	D	0	.	12.9262	0.58262	0.0:0.0:0.705:0.295	.	165	P33032	MC5R_HUMAN	D	165	ENSP00000318077:G165D	ENSP00000318077:G165D	G	+	2	0	MC5R	13816258	1.000000	0.71417	0.488000	0.27440	0.041000	0.13682	5.258000	0.65479	0.459000	0.27016	0.455000	0.32223	GGC	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254638.1		+	ENST00000324750.3	Missense_Mutation	SNP	18 : 13826258 - 13826258 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2166	427
ABCB6	10058	broad.mit.edu	37	2	220075733	220075733	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220075733A>G	ENST00000265316.3	-	15	2382	c.2066T>C	c.(2065-2067)gTc>gCc	p.V689A	ABCB6_ENST00000439002.2_Missense_Mutation_p.V643A	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	689	ABC transporter.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCAGCTGTGACACGGCCGTA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	81	84			NA	NA	2		NA											NA				220075733		2203	4300	6503	SO:0001583	missense			AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657	10058	10058		ATP binding cassette transporters / subfamily B	47	protein-coding gene	gene with protein product	ATP-binding cassette half-transporter	605452	ATP-binding cassette, sub-family B (MDR/TAP), member 6		NA	8894702, 9110174	Standard	NM_005689	NM_005689	NA	Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.2066T>C	2.37:g.220075733A>G	ENSP00000265316:p.Val689Ala	NA	O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	37	CCDS2436.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.14|14.14	2.447439|2.447439	0.43429|0.43429	.|.	.|.	ENSG00000115657|ENSG00000115657	ENST00000295750|ENST00000265316;ENST00000439002	.|D;D	.|0.90261	.|-2.64;-2.64	4.7|4.7	3.54|3.54	0.40534|0.40534	.|ATPase, AAA+ type, core (1);ABC transporter-like (2);	.|0.266329	.|0.37530	.|N	.|0.002060	T|T	0.78220|0.78220	0.4249|0.4249	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|B;B	.|0.09022	.|0.001;0.002	.|B;B	.|0.18263	.|0.007;0.021	T|T	0.67818|0.67818	-0.5572|-0.5572	5|10	.|0.15066	.|T	.|0.55	-7.5861|-7.5861	10.1721|10.1721	0.42915|0.42915	0.92:0.0:0.08:0.0|0.92:0.0:0.08:0.0	.|.	.|643;689	.|Q9NP58-4;Q9NP58	.|.;ABCB6_HUMAN	P|A	537|689;643	.|ENSP00000265316:V689A;ENSP00000394333:V643A	.|ENSP00000265316:V689A	S|V	-|-	1|2	0|0	ABCB6|ABCB6	219783977|219783977	1.000000|1.000000	0.71417|0.71417	0.970000|0.970000	0.41538|0.41538	0.876000|0.876000	0.50452|0.50452	4.887000|4.887000	0.63156|0.63156	0.922000|0.922000	0.37019|0.37019	0.528000|0.528000	0.53228|0.53228	TCA|GTC	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256820.2		-	ENST00000265316.3	Missense_Mutation	SNP	2 : 220075733 - 220075733 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	410	61
THSD7B	80731	broad.mit.edu	37	2	137988686	137988686	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:137988686G>A	ENST00000409968.1	+	8	1974	c.1796G>A	c.(1795-1797)cGa>cAa	p.R599Q	THSD7B_ENST00000272643.3_Missense_Mutation_p.R599Q|THSD7B_ENST00000413152.2_Missense_Mutation_p.R568Q|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B	NA										NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATTCCCTGCCGAATGGACTGT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	GLN/ARG	1,3991		0,1,1995	95	96	95		1703	4.1	1	2		95	0,8316		0,0,4158	no	missense	THSD7B	NM_001080427.1	43	0,1,6153	AA,AG,GG	NA	0.0,0.0251,0.0081	probably-damaging	568/1578	137988686	1,12307	1996	4158	6154	SO:0001583	missense					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229	80731	80731			29348	protein-coding gene	gene with protein product					NA	11214970	Standard	XM_046570.9	NM_001080427	NA	Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1796G>A	2.37:g.137988686G>A	ENSP00000387145:p.Arg599Gln	NA		37		.	.	.	.	.	.	.	.	.	.	G	19.19	3.779624	0.70107	2.51E-4	0.0	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.60672	0.17;0.17;0.17	5.89	4.09	0.47781	.	0.705388	0.14196	N	0.334986	T	0.39759	0.1090	L	0.28115	0.83	0.80722	D	1	D;P	0.56746	0.977;0.938	B;B	0.40444	0.329;0.329	T	0.14783	-1.0460	10	0.34782	T	0.22	.	6.6903	0.23167	0.1639:0.2698:0.5663:0.0	.	599;568	Q9C0I4;C9JKN6	THS7B_HUMAN;.	Q	599;599;568	ENSP00000387145:R599Q;ENSP00000272643:R599Q;ENSP00000413841:R568Q	ENSP00000272643:R599Q	R	+	2	0	THSD7B	137705156	0.927000	0.31430	0.992000	0.48379	0.969000	0.65631	4.797000	0.62503	1.503000	0.48686	0.563000	0.77884	CGA	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000331769.2		+	ENST00000409968.1	Missense_Mutation	SNP	2 : 137988686 - 137988686 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	276	18
WTIP	126374	broad.mit.edu	37	19	34991053	34991053	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34991053G>T	ENST00000590071.2	+	8	1509	c.1172G>T	c.(1171-1173)aGc>aTc	p.S391I	WTIP_ENST00000270288.6_Missense_Mutation_p.S615I	NM_001080436.1	NP_001073905.1			Wilms tumor 1 interacting protein	NA										NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CTGCAGCTGAGCGGGGAGGAG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	37	35			NA	NA	19		NA											NA				34991053		2143	4242	6385	SO:0001583	missense			AK130059	CCDS59375.1	19q13.11	2012-03-16			ENSG00000142279	ENSG00000142279	126374	126374			20964	protein-coding gene	gene with protein product	WT1-interacting protein	614790			NA	14736876	Standard	XM_059037	NM_001080436	NA	Approved		uc002nvm.3	A6NIX2		ENST00000590071.2:c.1172G>T	19.37:g.34991053G>T	ENSP00000466953:p.Ser391Ile	NA		37	CCDS59375.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275618	0.59649	.	.	ENSG00000142279	ENST00000270288	D	0.87966	-2.32	4.35	3.04	0.35103	Zinc finger, LIM-type (4);	0.180578	0.50627	D	0.000107	D	0.91068	0.7189	M	0.85373	2.75	0.35499	D	0.799668	D	0.61697	0.99	D	0.63877	0.919	D	0.91846	0.5487	10	0.72032	D	0.01	.	3.9293	0.09278	0.3703:0.0:0.6297:0.0	.	615	A6NIX2	WTIP_HUMAN	I	615	ENSP00000270288:S615I	ENSP00000270288:S615I	S	+	2	0	WTIP	39682893	1.000000	0.71417	0.995000	0.50966	0.570000	0.35934	3.870000	0.56070	2.101000	0.63845	0.305000	0.20034	AGC	WTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459381.3		+	ENST00000590071.2	Missense_Mutation	SNP	19 : 34991053 - 34991053 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	190	31
DHX37	57647	broad.mit.edu	37	12	125432718	125432718	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125432718G>A	ENST00000544745.1	-	23	2770	c.2661C>T	c.(2659-2661)ccC>ccT	p.P887P	DHX37_ENST00000308736.2_Silent_p.P1100P			Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1100							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TCTCCGTACGGGGCTGCAGCC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	34	34			NA	NA	12		NA											NA				125432718		2203	4300	6503	SO:0001819	synonymous_variant			AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990	57647	57647		DEAH-boxes	17210	protein-coding gene	gene with protein product			DEAD/DEAH box helicase DDX37	DDX37	NA	10819331	Standard	NM_032656	NM_032656	NA	Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000544745.1:c.2661C>T	12.37:g.125432718G>A		NA	Q9BUI7|Q9P211	37																																																																																				DHX37-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000400197.1		-	ENST00000544745.1	Silent	SNP	12 : 125432718 - 125432718 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	208	25
THG1L	54974	broad.mit.edu	37	5	157161741	157161741	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:157161741C>T	ENST00000231198.7	+	3	770	c.526C>T	c.(526-528)Cga>Tga	p.R176*		NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)	176					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTCAGCTGGCGACAAGCAGA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	79	83			NA	NA	5		NA											NA				157161741		2203	4300	6503	SO:0001587	stop_gained			AK223119	CCDS4341.1	5q33.3	2008-02-05			ENSG00000113272	ENSG00000113272	54974	54974			26053	protein-coding gene	gene with protein product	interphase cytoplasmic foci protein 45				NA	11230166	Standard	NM_017872	XM_005265939	NA	Approved	ICF45, FLJ11601, FLJ20546	uc003lxd.3	Q9NWX6	OTTHUMG00000130254	ENST00000231198.7:c.526C>T	5.37:g.157161741C>T	ENSP00000231198:p.Arg176*	NA	D3DQJ5|Q53G12|Q7L5R3|Q9H0S2	37	CCDS4341.1	.	.	.	.	.	.	.	.	.	.	C	38	7.280306	0.98182	.	.	ENSG00000113272	ENST00000231198;ENST00000448153	.	.	.	5.95	4.13	0.48395	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-38.3795	14.6076	0.68493	0.5054:0.4946:0.0:0.0	.	.	.	.	X	176;51	.	ENSP00000231198:R176X	R	+	1	2	THG1L	157094319	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.829000	0.48128	0.799000	0.34018	0.650000	0.86243	CGA	THG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252579.2		+	ENST00000231198.7	Nonsense_Mutation	SNP	5 : 157161741 - 157161741 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	321	56
PCDHB8	56128	broad.mit.edu	37	5	140558420	140558420	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140558420G>A	ENST00000239444.2	+	1	1050	c.805G>A	c.(805-807)Gat>Aat	p.D269N		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	269	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCTGCCACGGATGTAGACAC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													190	256	233			NA	NA	5		NA											NA				140558420		2203	4300	6503	SO:0001583	missense			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322	56128	56128		Cadherins / Protocadherins : Clustered	8693	other	protocadherin		606334			NA	10380929	Standard	NM_019120	NM_019120	NA	Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.805G>A	5.37:g.140558420G>A	ENSP00000239444:p.Asp269Asn	NA		37	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416301	0.42918	.	.	ENSG00000120322	ENST00000239444	T	0.74526	-0.85	4.25	4.25	0.50352	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.91566	0.7336	H	0.98351	4.21	0.36061	D	0.841464	D	0.89917	1.0	D	0.97110	1.0	D	0.97214	0.9873	9	0.87932	D	0	.	16.2711	0.82622	0.0:0.0:1.0:0.0	.	269	Q9UN66	PCDB8_HUMAN	N	269	ENSP00000239444:D269N	ENSP00000239444:D269N	D	+	1	0	PCDHB8	140538604	1.000000	0.71417	0.065000	0.19835	0.105000	0.19272	9.768000	0.98965	1.911000	0.55334	0.585000	0.79938	GAT	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251816.2		+	ENST00000239444.2	Missense_Mutation	SNP	5 : 140558420 - 140558420 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1595	167
HEATR5B	54497	broad.mit.edu	37	2	37208886	37208886	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37208886T>C	ENST00000233099.5	-	36	6058	c.5963A>G	c.(5962-5964)gAt>gGt	p.D1988G	HEATR5B_ENST00000354531.2_Missense_Mutation_p.D1899G	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1988							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AGAATTTTCATCCAGCAGGTA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	73	70			NA	NA	2		NA											NA				37208886		2203	4300	6503	SO:0001583	missense			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869	54497	54497			29273	protein-coding gene	gene with protein product					NA	10718198	Standard	NM_019024	XM_005264379	NA	Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.5963A>G	2.37:g.37208886T>C	ENSP00000233099:p.Asp1988Gly	NA	B5MDU8|Q7Z3B2|Q9NVL7	37	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.136813	0.77662	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.51817	0.76;0.69	5.61	5.61	0.85477	Armadillo-type fold (1);	0.049812	0.85682	D	0.000000	T	0.63117	0.2484	M	0.75615	2.305	0.34128	D	0.664921	P;P	0.41624	0.53;0.757	P;P	0.51866	0.571;0.682	T	0.75193	-0.3404	10	0.54805	T	0.06	-21.388	16.1025	0.81194	0.0:0.0:0.0:1.0	.	1988;1988	Q9P2D3;B9EK47	HTR5B_HUMAN;.	G	1988;1899	ENSP00000233099:D1988G;ENSP00000346531:D1899G	ENSP00000233099:D1988G	D	-	2	0	HEATR5B	37062390	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.741000	0.84997	2.254000	0.74563	0.533000	0.62120	GAT	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325492.1		-	ENST00000233099.5	Missense_Mutation	SNP	2 : 37208886 - 37208886 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	557	145
KMT2C	58508	broad.mit.edu	37	7	151884809	151884809	+	Missense_Mutation	SNP	G	G	A	rs149660967		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151884809G>A	ENST00000262189.6	-	32	5002	c.4784C>T	c.(4783-4785)cCt>cTt	p.P1595L	KMT2C_ENST00000355193.2_Missense_Mutation_p.P1595L	NM_170606.2	NP_733751.2			lysine (K)-specific methyltransferase 2C	NA											NA						CCTGGCATCAGGATAAGAGGA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	96	97			NA	NA	7		NA											NA				151884809		2203	4300	6503	SO:0001583	missense			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609	58508	58508		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	13726	protein-coding gene	gene with protein product		606833	myeloid/lymphoid or mixed-lineage leukemia 3	MLL3	NA	10819331	Standard		XM_005250026	NA	Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.4784C>T	7.37:g.151884809G>A	ENSP00000262189:p.Pro1595Leu	NA		37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.706173	0.30232	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.81908	-1.55;-1.55	5.71	4.83	0.62350	.	0.308380	0.22396	U	0.060603	T	0.70500	0.3231	N	0.11927	0.2	0.54753	D	0.999988	B;B	0.17038	0.02;0.011	B;B	0.17722	0.016;0.019	T	0.64076	-0.6492	10	0.18276	T	0.48	.	17.0864	0.86612	0.0:0.127:0.873:0.0	.	1595;656	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	L	1595	ENSP00000262189:P1595L;ENSP00000347325:P1595L	ENSP00000262189:P1595L	P	-	2	0	MLL3	151515742	0.987000	0.35691	0.290000	0.24890	0.993000	0.82548	3.950000	0.56676	1.533000	0.49186	0.643000	0.83706	CCT	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318887.3		-	ENST00000262189.6	Missense_Mutation	SNP	7 : 151884809 - 151884809 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	595	97
EZH2	2146	broad.mit.edu	37	7	148524275	148524275	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148524275C>A	ENST00000320356.2	-	7	830	c.709G>T	c.(709-711)Gca>Tca	p.A237S	EZH2_ENST00000460911.1_Missense_Mutation_p.A237S|EZH2_ENST00000476773.1_Missense_Mutation_p.A228S|EZH2_ENST00000541220.1_Missense_Mutation_p.A228S|EZH2_ENST00000350995.2_Missense_Mutation_p.A198S|EZH2_ENST00000478654.1_Missense_Mutation_p.A228S|EZH2_ENST00000483967.1_Missense_Mutation_p.A228S|EZH2_ENST00000536783.1_Missense_Mutation_p.A128S	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	237	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			AGTTCTTCTGCTGTGCCCTTA	0.368		NA	Mis		DLBCL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	0													168	162	164			NA	NA	7		NA											NA				148524275		2203	4300	6503	SO:0001583	missense				CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462	2146	2146		Chromatin-modifying enzymes / K-methyltransferases	3527	protein-coding gene	gene with protein product		601573	enhancer of zeste (Drosophila) homolog 2, enhancer of zeste homolog 2 (Drosophila)		NA	8954776, 17172412	Standard	NM_004456	NM_152998	NA	Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000320356.2:c.709G>T	7.37:g.148524275C>A	ENSP00000320147:p.Ala237Ser	NA	B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q92857|Q96FI6	37	CCDS5891.1	.	.	.	.	.	.	.	.	.	.	c	11.60	1.685787	0.29962	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967;ENST00000536783	D;D;D;D;D;D;D;T	0.93712	-3.24;-3.27;-3.27;-3.27;-3.24;-3.24;-3.27;0.97	5.6	4.68	0.58851	SANT domain, DNA binding (1);	0.338513	0.34580	N	0.003859	D	0.83519	0.5272	N	0.04636	-0.2	0.31822	N	0.62585	B;B;B;B;B;B	0.11235	0.004;0.0;0.0;0.0;0.001;0.0	B;B;B;B;B;B	0.09377	0.004;0.002;0.002;0.001;0.002;0.001	T	0.79035	-0.1968	10	0.24483	T	0.36	.	13.5966	0.61994	0.2792:0.7208:0.0:0.0	.	237;228;228;237;198;237	B7Z8K5;Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;.;EZH2_HUMAN;.;.	S	228;237;237;198;228;228;228;128	ENSP00000417062:A228S;ENSP00000320147:A237S;ENSP00000419711:A237S;ENSP00000223193:A198S;ENSP00000443219:A228S;ENSP00000419050:A228S;ENSP00000419856:A228S;ENSP00000439305:A128S	ENSP00000320147:A237S	A	-	1	0	EZH2	148155208	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.138000	0.31491	2.632000	0.89209	0.650000	0.86243	GCA	EZH2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352740.1		-	ENST00000320356.2	Missense_Mutation	SNP	7 : 148524275 - 148524275 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	858	61
MUT	4594	broad.mit.edu	37	6	49427082	49427082	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:49427082A>G	ENST00000274813.3	-	2	225	c.98T>C	c.(97-99)cTa>cCa	p.L33P		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	33					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGCTGGTGTAGAAGTCGTTG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	116	117			NA	NA	6		NA											NA				49427082		2203	4300	6503	SO:0001583	missense				CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	4594	4594	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	methylmalonyl Coenzyme A mutase		NA	2907507, 9503014	Standard		NM_000255	NA	Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.98T>C	6.37:g.49427082A>G	ENSP00000274813:p.Leu33Pro	NA	A8K953|Q5SYZ3|Q96B11|Q9UD64	37	CCDS4924.1	.	.	.	.	.	.	.	.	.	.	A	14.43	2.534520	0.45073	.	.	ENSG00000146085	ENST00000274813	D	0.98264	-4.83	5.38	5.38	0.77491	Cobalamin (vitamin B12)-dependent enzyme, catalytic (1);	0.279818	0.29846	N	0.011045	D	0.96358	0.8812	N	0.08118	0	0.80722	D	1	D	0.64830	0.994	D	0.69479	0.964	D	0.98338	1.0537	10	0.54805	T	0.06	-5.9567	14.8593	0.70366	1.0:0.0:0.0:0.0	.	33	P22033	MUTA_HUMAN	P	33	ENSP00000274813:L33P	ENSP00000274813:L33P	L	-	2	0	MUT	49535041	1.000000	0.71417	0.944000	0.38274	0.706000	0.40770	6.361000	0.73070	2.165000	0.68154	0.533000	0.62120	CTA	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040854.1		-	ENST00000274813.3	Missense_Mutation	SNP	6 : 49427082 - 49427082 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	435	69
LRRC4B	94030	broad.mit.edu	37	19	51021887	51021887	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51021887G>T	ENST00000599957.1	-	3	1280	c.1083C>A	c.(1081-1083)tgC>tgA	p.C361*	LRRC4B_ENST00000389201.3_Nonsense_Mutation_p.C361*			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	361	LRRCT.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CGGGCGCATAGCAGGTGAAAT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	55	53			NA	NA	19		NA											NA				51021887		2108	4221	6329	SO:0001587	stop_gained			BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409	94030	94030		Immunoglobulin superfamily / I-set domain containing, Endogenous ligands	25042	protein-coding gene	gene with protein product	netrin-G3 ligand		leucine-rich repeats and immunoglobulin-like domains 4	LRIG4	NA	11441184	Standard	NM_001080457	NM_001080457	NA	Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1083C>A	19.37:g.51021887G>T	ENSP00000471502:p.Cys361*	NA	Q3ZCQ4|Q58F20	37	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	G	36	5.798000	0.96952	.	.	ENSG00000131409	ENST00000389201;ENST00000535879	.	.	.	3.9	3.9	0.45041	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7911	0.63140	0.0:0.0:1.0:0.0	.	.	.	.	X	361	.	ENSP00000373853:C361X	C	-	3	2	LRRC4B	55713699	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.597000	0.61062	2.192000	0.70111	0.561000	0.74099	TGC	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464907.1		-	ENST00000599957.1	Nonsense_Mutation	SNP	19 : 51021887 - 51021887 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	337	59
SETX	23064	broad.mit.edu	37	9	135203375	135203375	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135203375T>G	ENST00000224140.5	-	10	3792	c.3610A>C	c.(3610-3612)Agg>Cgg	p.R1204R	SETX_ENST00000393220.1_Silent_p.R1204R|SETX_ENST00000372169.2_Silent_p.R1204R	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1204					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GTTGAAGTCCTTCTATCAATA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	94	95			NA	NA	9		NA											NA				135203375		2203	4300	6503	SO:0001819	synonymous_variant			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290	23064	23064			445	protein-coding gene	gene with protein product		608465	amyotrophic lateral sclerosis 4, spinocerebellar ataxia, recessive, non-Friedreich type 1	ALS4, SCAR1	NA	9497266, 11022012	Standard	NM_015046	NM_015046	NA	Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.3610A>C	9.37:g.135203375T>G		NA	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	37	CCDS6947.1																																																																																			SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054774.3		-	ENST00000224140.5	Silent	SNP	9 : 135203375 - 135203375 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	529	98
MYO15A	51168	broad.mit.edu	37	17	18065967	18065967	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18065967A>G	ENST00000418233.3	+	16	2000	c.1378A>G	c.(1378-1380)Agc>Ggc	p.S460G	MYO15A_ENST00000451725.2_Missense_Mutation_p.S88G|MYO15A_ENST00000205890.5_Missense_Mutation_p.S3196G			Q9UKN7	MYO15_HUMAN	myosin XVA	3196	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGAGCTCCCCAGCAGCATAGA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	40	40			NA	NA	17		NA											NA				18065967		1944	4141	6085	SO:0001583	missense			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536	51168	51168		Myosins / Myosin superfamily : Class XV	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15	NA	9603736	Standard	NM_016239	NM_016239	NA	Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000418233.3:c.1378A>G	17.37:g.18065967A>G	ENSP00000408800:p.Ser460Gly	NA		37		.	.	.	.	.	.	.	.	.	.	A	15.02	2.710290	0.48517	.	.	ENSG00000091536	ENST00000205890;ENST00000418233;ENST00000556535;ENST00000557190;ENST00000451725	D;D;D	0.92752	-3.1;-3.1;-3.1	4.94	3.86	0.44501	MyTH4 domain (3);	.	.	.	.	D	0.92675	0.7672	M	0.89715	3.055	0.44024	D	0.996748	B;B;B;B;B;B	0.26602	0.062;0.067;0.014;0.046;0.083;0.154	B;B;B;B;B;B	0.31016	0.123;0.058;0.021;0.028;0.036;0.066	D	0.89101	0.3489	9	0.36615	T	0.2	.	10.4867	0.44726	0.9226:0.0:0.0774:0.0	.	88;185;460;3196;118;203	B4DQJ3;B4DLV9;B4DFC7;Q9UKN7;Q7Z382;Q8TCK0	.;.;.;MYO15_HUMAN;.;.	G	3196;185;150;88;88	ENSP00000205890:S3196G;ENSP00000451782:S150G;ENSP00000409098:S88G	ENSP00000205890:S3196G	S	+	1	0	MYO15A	18006692	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.939000	0.70179	0.732000	0.32470	0.374000	0.22700	AGC	MYO15A-009	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000446125.1		+	ENST00000418233.3	Missense_Mutation	SNP	17 : 18065967 - 18065967 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	238	12
MED13L	23389	broad.mit.edu	37	12	116446921	116446921	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:116446921G>A	ENST00000281928.3	-	10	1503	c.1297C>T	c.(1297-1299)Cgt>Tgt	p.R433C		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	433					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ACTGCACAACGTTTTAAAAGC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	78	79			NA	NA	12		NA											NA				116446921		2202	4300	6502	SO:0001583	missense			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066	23389	23389			22962	protein-coding gene	gene with protein product		608771	thyroid hormone receptor associated protein 2	THRAP2	NA		Standard		NM_015335	NA	Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.1297C>T	12.37:g.116446921G>A	ENSP00000281928:p.Arg433Cys	NA	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	37	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824145	0.50739	.	.	ENSG00000123066	ENST00000281928	T	0.74842	-0.88	5.76	5.76	0.90799	.	0.330564	0.34484	N	0.003940	D	0.83788	0.5330	M	0.64404	1.975	0.58432	D	0.999999	D	0.89917	1.0	P	0.61722	0.893	T	0.82602	-0.0376	10	0.45353	T	0.12	.	19.9738	0.97296	0.0:0.0:1.0:0.0	.	433	Q71F56	MD13L_HUMAN	C	433	ENSP00000281928:R433C	ENSP00000281928:R433C	R	-	1	0	MED13L	114931304	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.974000	0.70465	2.732000	0.93576	0.655000	0.94253	CGT	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403879.3		-	ENST00000281928.3	Missense_Mutation	SNP	12 : 116446921 - 116446921 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	378	71
MUC16	94025	broad.mit.edu	37	19	9085546	9085546	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9085546A>C	ENST00000397910.4	-	1	6472	c.6269T>G	c.(6268-6270)tTt>tGt	p.F2090C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2090	Ser-rich.|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						AAAGAGTGGAAATTCAGTCGT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	163	165			NA	NA	19		NA											NA				9085546		1909	4128	6037	SO:0001583	missense			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.6269T>G	19.37:g.9085546A>C	ENSP00000381008:p.Phe2090Cys	NA	Q6ZQW5|Q96RK2	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	0.555	-0.847763	0.02651	.	.	ENSG00000181143	ENST00000397910	T	0.02890	4.12	0.235	0.235	0.15431	.	.	.	.	.	T	0.04092	0.0114	N	0.08118	0	.	.	.	D	0.67145	0.996	D	0.65773	0.938	T	0.45338	-0.9268	7	0.87932	D	0	.	.	.	.	.	2090	B5ME49	.	C	2090	ENSP00000381008:F2090C	ENSP00000381008:F2090C	F	-	2	0	MUC16	8946546	0.009000	0.17119	0.102000	0.21198	0.102000	0.19082	0.745000	0.26259	0.263000	0.21812	0.260000	0.18958	TTT	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Missense_Mutation	SNP	19 : 9085546 - 9085546 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	797	168
TARBP2	6895	broad.mit.edu	37	12	53898552	53898552	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53898552G>A	ENST00000552857.1	+	4	428	c.293G>A	c.(292-294)cGc>cAc	p.R98H	TARBP2_ENST00000456234.2_Missense_Mutation_p.R168H|TARBP2_ENST00000266987.2_Missense_Mutation_p.R189H|TARBP2_ENST00000394357.2_Missense_Mutation_p.R168H			Q15633	TRBP2_HUMAN	TAR (HIV-1) RNA binding protein 2	189	Sufficient for interaction with PRKRA.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						CCAGCCCACCGCAAAGAATTC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	78	78			NA	NA	12		NA											NA				53898552		2203	4300	6503	SO:0001583	missense				CCDS8861.1, CCDS41791.1	12q13.13	2013-09-20	2007-06-26		ENSG00000139546	ENSG00000139546	6895	6895			11569	protein-coding gene	gene with protein product		605053	Tar (HIV-1) RNA binding protein 2		NA	2011739	Standard		NM_134323	NA	Approved		uc001sdt.3	Q15633	OTTHUMG00000169855	ENST00000552857.1:c.293G>A	12.37:g.53898552G>A	ENSP00000449537:p.Arg98His	NA	Q12878|Q8WY32|Q8WY33|Q9BRY2	37		.	.	.	.	.	.	.	.	.	.	G	25.8	4.670256	0.88348	.	.	ENSG00000139546	ENST00000266987;ENST00000456234;ENST00000552857;ENST00000394357;ENST00000550407	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	4.9	4.9	0.64082	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	T	0.80889	0.4710	N	0.17674	0.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.83445	0.0045	10	0.66056	D	0.02	-28.2955	17.3565	0.87337	0.0:0.0:1.0:0.0	.	189;189	A8K3X2;Q15633	.;TRBP2_HUMAN	H	189;168;98;168;90	ENSP00000266987:R189H;ENSP00000416077:R168H;ENSP00000449537:R98H;ENSP00000377885:R168H	ENSP00000266987:R189H	R	+	2	0	TARBP2	52184819	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	6.175000	0.71949	2.717000	0.92951	0.491000	0.48974	CGC	TARBP2-021	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000406280.1		+	ENST00000552857.1	Missense_Mutation	SNP	12 : 53898552 - 53898552 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	405	80
RNF25	64320	broad.mit.edu	37	2	219528785	219528785	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219528785G>T	ENST00000295704.2	-	10	1715	c.1275C>A	c.(1273-1275)ggC>ggA	p.G425G		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	425					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGGTGTCCGGCCTTTAGAGC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	87	81			NA	NA	2		NA											NA				219528785		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481	64320	64320		RING-type (C3HC4) zinc fingers	14662	protein-coding gene	gene with protein product					NA	12748188	Standard	NM_022453	NM_022453	NA	Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077	ENST00000295704.2:c.1275C>A	2.37:g.219528785G>T		NA	A8K0D6|Q53HQ5|Q9H874	37	CCDS2420.1																																																																																			RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256721.1		-	ENST00000295704.2	Silent	SNP	2 : 219528785 - 219528785 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1139	339
KLKB1	3818	broad.mit.edu	37	4	187178451	187178451	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187178451C>T	ENST00000264690.6	+	14	1844	c.1657C>T	c.(1657-1659)Caa>Taa	p.Q553*	KLKB1_ENST00000513864.1_Intron	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	553	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GAAAAGATATCAAGATTATAA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	97	93			NA	NA	4		NA											NA				187178451		2201	4298	6499	SO:0001587	stop_gained			M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344	3818	3818		Kallikreins	6371	protein-coding gene	gene with protein product		229000		KLK3	NA	9535413, 3521732	Standard	NM_000892	XM_005262987	NA	Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.1657C>T	4.37:g.187178451C>T	ENSP00000264690:p.Gln553*	NA	A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	37	CCDS34120.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429760	0.43122	.	.	ENSG00000164344	ENST00000264690	.	.	.	5.97	-5.56	0.02529	.	0.771417	0.12142	N	0.495758	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	6.4025	0.21646	0.1991:0.5394:0.1817:0.0798	.	.	.	.	X	553	.	ENSP00000264690:Q553X	Q	+	1	0	KLKB1	187415445	0.000000	0.05858	0.000000	0.03702	0.309000	0.27889	0.460000	0.21924	-0.347000	0.08299	-1.112000	0.02068	CAA	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317732.1		+	ENST00000264690.6	Nonsense_Mutation	SNP	4 : 187178451 - 187178451 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	464	86
KIRREL2	84063	broad.mit.edu	37	19	36349719	36349719	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36349719C>T	ENST00000360202.5	+	4	673	c.475C>T	c.(475-477)Ctg>Ttg	p.L159L	NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Silent_p.L159L|KIRREL2_ENST00000347900.6_Silent_p.L109L|KIRREL2_ENST00000592409.1_Silent_p.L159L	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	159	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCTGAATTGCTGTGGTTCCG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	103	104			NA	NA	19		NA											NA				36349719		2203	4300	6503	SO:0001819	synonymous_variant			AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259	84063	84063		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	18816	protein-coding gene	gene with protein product		607762			NA	12837264, 12504092	Standard	NM_032123	NM_199180	NA	Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.475C>T	19.37:g.36349719C>T		NA	C9JHF1|C9JJ76|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	37	CCDS12481.1																																																																																			KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452561.1		+	ENST00000360202.5	Silent	SNP	19 : 36349719 - 36349719 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	668	120
TMEM125	128218	broad.mit.edu	37	1	43738921	43738921	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43738921C>A	ENST00000432792.2	+	4	1098	c.528C>A	c.(526-528)tgC>tgA	p.C176*	TMEM125_ENST00000439858.1_Nonsense_Mutation_p.C176*			Q96AQ2	TM125_HUMAN	transmembrane protein 125	176						integral to membrane				breast(1)|large_intestine(1)|lung(1)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCGGACACTGCCCCTCCATCT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	44	48			NA	NA	1		NA											NA				43738921		2203	4300	6503	SO:0001587	stop_gained			BC016858	CCDS480.1	1p34.2	2006-02-16			ENSG00000179178	ENSG00000179178	128218	128218			28275	protein-coding gene	gene with protein product					NA		Standard	NM_144626	NM_144626	NA	Approved	MGC17299	uc021oml.1	Q96AQ2	OTTHUMG00000007288	ENST00000432792.2:c.528C>A	1.37:g.43738921C>A	ENSP00000429275:p.Cys176*	NA	D3DPX1	37	CCDS480.1	.	.	.	.	.	.	.	.	.	.	C	32	5.155432	0.94686	.	.	ENSG00000179178	ENST00000439858;ENST00000432792	.	.	.	5.18	2.29	0.28610	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4935	0.16789	0.0:0.5731:0.1329:0.294	.	.	.	.	X	176	.	ENSP00000429275:C176X	C	+	3	2	TMEM125	43511508	0.005000	0.15991	0.844000	0.33320	0.131000	0.20780	-0.199000	0.09491	0.205000	0.20568	0.563000	0.77884	TGC	TMEM125-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019032.2		+	ENST00000432792.2	Nonsense_Mutation	SNP	1 : 43738921 - 43738921 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	207	15
VPS26B	112936	broad.mit.edu	37	11	134109963	134109963	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134109963C>A	ENST00000281187.5	+	3	937	c.459C>A	c.(457-459)agC>agA	p.S153R	VPS26B_ENST00000525095.2_Missense_Mutation_p.S153R|VPS26B_ENST00000530402.1_3'UTR	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	153					protein transport|vacuolar transport	cytosol|retromer complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		ACACACTCAGCACATACCCAG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(171;1263 1952 15904 45703 47982)							NA				0													190	159	170			NA	NA	11		NA											NA				134109963		2201	4297	6498	SO:0001583	missense				CCDS8495.1	11q25	2008-02-05	2007-01-12		ENSG00000151502	ENSG00000151502	112936	112936			28119	protein-coding gene	gene with protein product		610027	vacuolar protein sorting 26 homolog B (yeast)		NA	16190980	Standard	NM_052875	NM_052875	NA	Approved	MGC10485, Pep8b	uc001qhe.3	Q4G0F5	OTTHUMG00000167175	ENST00000281187.5:c.459C>A	11.37:g.134109963C>A	ENSP00000281187:p.Ser153Arg	NA	Q96A55	37	CCDS8495.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494802	0.44352	.	.	ENSG00000151502	ENST00000281187;ENST00000525095	T	0.06528	3.29	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.17959	0.0431	L	0.60012	1.86	0.80722	D	1	P	0.51449	0.945	P	0.57548	0.823	T	0.03597	-1.1021	10	0.17832	T	0.49	-4.0493	19.3065	0.94164	0.0:1.0:0.0:0.0	.	153	Q4G0F5	VP26B_HUMAN	R	153;152	ENSP00000281187:S153R	ENSP00000281187:S153R	S	+	3	2	VPS26B	133615173	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	4.031000	0.57267	2.570000	0.86706	0.650000	0.86243	AGC	VPS26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393591.1		+	ENST00000281187.5	Missense_Mutation	SNP	11 : 134109963 - 134109963 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	422	70
SLU7	10569	broad.mit.edu	37	5	159834607	159834607	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159834607G>A	ENST00000297151.4	-	11	1388	c.1001C>T	c.(1000-1002)gCc>gTc	p.A334V		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	334					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTGTCATAGGCTTCCCATGC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	117	119			NA	NA	5		NA											NA				159834607		2203	4300	6503	SO:0001583	missense			AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609	10569	10569			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974			NA	10197984, 15728250	Standard	NM_006425	NM_006425	NA	Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.1001C>T	5.37:g.159834607G>A	ENSP00000297151:p.Ala334Val	NA	D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	37	CCDS4352.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646700	0.87958	.	.	ENSG00000164609	ENST00000297151	T	0.49432	0.78	6.17	3.44	0.39384	Pre-mRNA splicing Prp18-interacting factor (1);	0.329212	0.35739	N	0.003007	T	0.67059	0.2853	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67825	-0.5570	10	0.87932	D	0	-29.9888	9.9057	0.41375	0.1249:0.1156:0.7594:0.0	.	334	O95391	SLU7_HUMAN	V	334	ENSP00000297151:A334V	ENSP00000297151:A334V	A	-	2	0	SLU7	159767185	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.378000	0.97191	0.480000	0.27534	0.655000	0.94253	GCC	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252673.1		-	ENST00000297151.4	Missense_Mutation	SNP	5 : 159834607 - 159834607 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	188	26
WFS1	7466	broad.mit.edu	37	4	6293694	6293694	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6293694C>T	ENST00000226760.1	+	6	852	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	WFS1_ENST00000503569.1_Missense_Mutation_p.R228C	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	228					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GAAGCAGAGGCGCATGCTGGA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	39	41			NA	NA	4		NA											NA				6293694		2195	4298	6493	SO:0001583	missense			AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501	7466	7466			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38	NA	7987399, 9771706	Standard		NM_006005	NA	Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.682C>T	4.37:g.6293694C>T	ENSP00000226760:p.Arg228Cys	NA	B2R797|D3DVT1|Q8N6I3|Q9UNW6	37	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854440	0.71719	.	.	ENSG00000109501	ENST00000503569;ENST00000226760	D;D	0.94966	-3.57;-3.57	4.37	3.46	0.39613	.	0.052887	0.64402	D	0.000001	D	0.95538	0.8550	L	0.54323	1.7	0.49130	D	0.99975	D	0.89917	1.0	D	0.75484	0.986	D	0.94871	0.8030	10	0.54805	T	0.06	-44.9845	11.1008	0.48172	0.3123:0.6877:0.0:0.0	.	228	O76024	WFS1_HUMAN	C	228	ENSP00000423337:R228C;ENSP00000226760:R228C	ENSP00000226760:R228C	R	+	1	0	WFS1	6344595	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.994000	0.49433	2.144000	0.66660	0.561000	0.74099	CGC	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206863.1		+	ENST00000226760.1	Missense_Mutation	SNP	4 : 6293694 - 6293694 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	111	22
DHX9	1660	broad.mit.edu	37	1	182846018	182846018	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182846018T>G	ENST00000367549.3	+	19	2288	c.2178T>G	c.(2176-2178)gtT>gtG	p.V726V		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	726	Helicase C-terminal.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						ACGATGTTGTTTATGTCATTG	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(69;210 1162 3697 13559 39565)							NA				0													70	63	65			NA	NA	1		NA											NA				182846018		1839	4097	5936	SO:0001819	synonymous_variant			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829	1660	1660		DEAH-boxes	2750	protein-coding gene	gene with protein product	NDH II, RNA helicase A	603115	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin), DEAH (Asp-Glu-Ala-His) box polypeptide 9	LKP, DDX9	NA	8344961, 9111062	Standard	NM_030588	NM_001357	NA	Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.2178T>G	1.37:g.182846018T>G		NA	B2RNV4|Q5VY62|Q6PD69|Q99556	37	CCDS41444.1																																																																																			DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085522.2		+	ENST00000367549.3	Silent	SNP	1 : 182846018 - 182846018 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	291	52
DPP3	10072	broad.mit.edu	37	11	66254796	66254796	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66254796G>A	ENST00000532677.1	+	5	1014	c.613G>A	c.(613-615)Gac>Aac	p.D205N	DPP3_ENST00000453114.1_Missense_Mutation_p.D186N|DPP3_ENST00000531863.1_Missense_Mutation_p.D206N|DPP3_ENST00000360510.2_Missense_Mutation_p.D186N|DPP3_ENST00000541961.1_Missense_Mutation_p.D186N|DPP3_ENST00000530165.1_Missense_Mutation_p.D156N	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	186					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						ATTGGCCCAGGACTTTCTGGA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	120	125			NA	NA	11		NA											NA				66254796		2200	4295	6495	SO:0001583	missense			AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	10072	10072	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	dipeptidylpeptidase III, dipeptidylpeptidase 3		NA	10773679	Standard		NM_005700	NA	Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000532677.1:c.613G>A	11.37:g.66254796G>A	ENSP00000435284:p.Asp205Asn	NA	B2RDB5|O95748|Q969H2|Q9BV67|Q9HAL6	37		.	.	.	.	.	.	.	.	.	.	G	14.26	2.482673	0.44147	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000532019;ENST00000526515;ENST00000530165;ENST00000533725;ENST00000543807;ENST00000531354	T;T;T;T;T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95	4.89	3.72	0.42706	.	0.310982	0.39407	N	0.001362	T	0.17662	0.0424	L	0.54965	1.715	0.32206	N	0.577221	B;B	0.15719	0.014;0.005	B;B	0.22152	0.022;0.038	T	0.06356	-1.0831	10	0.32370	T	0.25	.	5.0196	0.14354	0.2599:0.0:0.7401:0.0	.	205;186	G3V1D3;Q9NY33	.;DPP3_HUMAN	N	206;205;186;186;186;84;156;156;84;84;186	ENSP00000432782:D206N;ENSP00000435284:D205N;ENSP00000353701:D186N;ENSP00000389943:D186N;ENSP00000440502:D186N;ENSP00000437101:D84N;ENSP00000431606:D156N;ENSP00000436941:D156N;ENSP00000434518:D84N;ENSP00000432618:D186N	ENSP00000353701:D186N	D	+	1	0	DPP3	66011372	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	2.591000	0.46163	2.415000	0.81967	0.655000	0.94253	GAC	DPP3-001	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000393423.1		+	ENST00000532677.1	Missense_Mutation	SNP	11 : 66254796 - 66254796 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	348	59
PYGO2	90780	broad.mit.edu	37	1	154932183	154932183	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154932183G>T	ENST00000368457.2	-	3	464	c.293C>A	c.(292-294)cCt>cAt	p.P98H	PYGO2_ENST00000483463.1_5'UTR|PYGO2_ENST00000368456.1_Missense_Mutation_p.P61H	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	98	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GAAGGGCACAGGACTGCCAAG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(87;357 1460 1955 21029 23522)							NA				0													20	22	21			NA	NA	1		NA											NA				154932183		2203	4300	6503	SO:0001583	missense			BC006132	CCDS1075.1	1q22	2013-10-09	2013-10-09		ENSG00000163348	ENSG00000163348	90780	90780		Zinc fingers, PHD-type	30257	protein-coding gene	gene with protein product		606903	pygopus homolog 2 (Drosophila)		NA	11988739	Standard	NM_138300	NM_138300	NA	Approved		uc001fft.3	Q9BRQ0	OTTHUMG00000037370	ENST00000368457.2:c.293C>A	1.37:g.154932183G>T	ENSP00000357442:p.Pro98His	NA	Q8WYZ4|Q96CY2	37	CCDS1075.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.028263	0.54790	.	.	ENSG00000163348	ENST00000368457;ENST00000368456	T;T	0.57107	0.42;0.47	4.85	3.93	0.45458	.	0.839882	0.10411	N	0.677871	T	0.44850	0.1313	N	0.19112	0.55	0.44555	D	0.997518	D	0.89917	1.0	D	0.65987	0.94	T	0.39961	-0.9588	10	0.36615	T	0.2	-0.378	13.4807	0.61334	0.0:0.0:0.8419:0.1581	.	98	Q9BRQ0	PYGO2_HUMAN	H	98;61	ENSP00000357442:P98H;ENSP00000357441:P61H	ENSP00000357441:P61H	P	-	2	0	PYGO2	153198807	1.000000	0.71417	0.996000	0.52242	0.929000	0.56500	6.143000	0.71756	1.256000	0.44068	0.455000	0.32223	CCT	PYGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090949.1		-	ENST00000368457.2	Missense_Mutation	SNP	1 : 154932183 - 154932183 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	198	38
FAM35A	54537	broad.mit.edu	37	10	88946903	88946903	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88946903C>T	ENST00000298786.4	+	9	2575	c.2461C>T	c.(2461-2463)Ctg>Ttg	p.L821L	FAM35A_ENST00000298784.1_Silent_p.L752L			Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	752										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						AGAATCAAAGCTGATAGAGAA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(175;703 2004 25460 32514 43441)							NA				0													155	130	138			NA	NA	10		NA											NA				88946903		2203	4300	6503	SO:0001819	synonymous_variant			BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376	54537	54537			28773	protein-coding gene	gene with protein product					NA	8619474, 9110174	Standard	NM_019054	NM_019054	NA	Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298786.4:c.2461C>T	10.37:g.88946903C>T		NA	O95885|Q9H991	37		.	.	.	.	.	.	.	.	.	.	C	8.189	0.795558	0.16327	.	.	ENSG00000122376	ENST00000342900	.	.	.	3.13	-0.513	0.11962	.	.	.	.	.	T	0.44350	0.1289	.	.	.	0.36929	D	0.891807	.	.	.	.	.	.	T	0.42103	-0.9471	4	.	.	.	-4.7816	4.7335	0.12977	0.4:0.4123:0.0:0.1877	.	.	.	.	V	475	.	.	A	+	2	0	FAM35A	88936883	0.229000	0.23729	0.362000	0.25862	0.629000	0.37895	-0.559000	0.05971	0.136000	0.18733	0.194000	0.17425	GCT	FAM35A-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000049197.2		+	ENST00000298786.4	Silent	SNP	10 : 88946903 - 88946903 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	347	51
KIF5B	3799	broad.mit.edu	37	10	32320176	32320176	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32320176T>C	ENST00000302418.4	-	14	1863	c.1406A>G	c.(1405-1407)aAt>aGt	p.N469S		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	469					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				AGCTTGCATATTGTCTTGATC	0.373		NA	T	RET, ALK	NSCLC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	0													95	88	91			NA	NA	10		NA											NA				32320176		2203	4300	6503	SO:0001583	missense			X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759	3799	3799		Kinesins	6324	protein-coding gene	gene with protein product		602809		KNS1	NA	1607388	Standard	NM_004521	NM_004521	NA	Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.1406A>G	10.37:g.32320176T>C	ENSP00000307078:p.Asn469Ser	NA	A0AVB2|Q5VZ85	37	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	T	12.19	1.862708	0.32884	.	.	ENSG00000170759	ENST00000302418	D	0.84660	-1.88	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.79741	0.4498	L	0.38175	1.15	0.37600	D	0.920517	B	0.12013	0.005	B	0.12156	0.007	T	0.75792	-0.3193	10	0.19590	T	0.45	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	469	P33176	KINH_HUMAN	S	469	ENSP00000307078:N469S	ENSP00000307078:N469S	N	-	2	0	KIF5B	32360182	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.286000	0.51724	2.371000	0.80710	0.533000	0.62120	AAT	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047467.1		-	ENST00000302418.4	Missense_Mutation	SNP	10 : 32320176 - 32320176 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	278	39
PXDN	7837	broad.mit.edu	37	2	1647332	1647332	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1647332G>T	ENST00000252804.4	-	19	3810	c.3760C>A	c.(3760-3762)Cct>Act	p.P1254T		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1254					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AACACCCCAGGGTTCTCATAC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	52	51			NA	NA	2		NA											NA				1647332		1968	4149	6117	SO:0001583	missense			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508	7837	7837		Immunoglobulin superfamily / I-set domain containing	14966	protein-coding gene	gene with protein product		605158			NA	10441517, 9039502	Standard	XM_056455	XM_005264707	NA	Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3760C>A	2.37:g.1647332G>T	ENSP00000252804:p.Pro1254Thr	NA	A8QM65|D6W4Y0|Q4KMG2	37	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093020	0.76756	.	.	ENSG00000130508	ENST00000252804	T	0.75260	-0.92	5.41	5.41	0.78517	.	0.202308	0.43110	D	0.000611	D	0.86855	0.6033	M	0.80616	2.505	0.80722	D	1	D	0.63880	0.993	D	0.67548	0.952	D	0.87931	0.2710	10	0.62326	D	0.03	-19.6271	19.2046	0.93724	0.0:0.0:1.0:0.0	.	1254	Q92626	PXDN_HUMAN	T	1254	ENSP00000252804:P1254T	ENSP00000252804:P1254T	P	-	1	0	PXDN	1626339	1.000000	0.71417	0.991000	0.47740	0.472000	0.32918	7.737000	0.84957	2.525000	0.85131	0.563000	0.77884	CCT	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322505.1		-	ENST00000252804.4	Missense_Mutation	SNP	2 : 1647332 - 1647332 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	14
SSTR4	6754	broad.mit.edu	37	20	23016594	23016594	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23016594G>A	ENST00000255008.3	+	1	538	c.474G>A	c.(472-474)cgG>cgA	p.R158R	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	158					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CGACCTACCGGCGGCCCAGCG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(15;850 1104 16640)							NA				0													44	49	47			NA	NA	20		NA											NA				23016594		2198	4293	6491	SO:0001819	synonymous_variant				CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671	6754	6754		GPCR / Class A : Somatostatin receptors	11333	protein-coding gene	gene with protein product		182454			NA	8483934	Standard		NM_001052	NA	Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.474G>A	20.37:g.23016594G>A		NA	Q17RM1|Q17RM3|Q9UIY1	37	CCDS42856.1																																																																																			SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078308.1		+	ENST00000255008.3	Silent	SNP	20 : 23016594 - 23016594 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	560	113
ABRA	137735	broad.mit.edu	37	8	107781789	107781789	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:107781789C>A	ENST00000311955.3	-	1	684	c.630G>T	c.(628-630)caG>caT	p.Q210H		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	210					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CCACAGCCACCTGCACTCCAT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	183	182			NA	NA	8		NA											NA				107781789		2203	4300	6503	SO:0001583	missense			AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429	137735	137735			30655	protein-coding gene	gene with protein product	striated muscle activator of Rho-dependent signaling	609747			NA	11983702	Standard	NM_139166	NM_139166	NA	Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.630G>T	8.37:g.107781789C>A	ENSP00000311436:p.Gln210His	NA		37	CCDS6305.1	.	.	.	.	.	.	.	.	.	.	C	6.050	0.377609	0.11466	.	.	ENSG00000174429	ENST00000311955	.	.	.	6.07	2.04	0.26737	.	0.741285	0.13532	N	0.380862	T	0.30696	0.0773	L	0.43152	1.355	0.24564	N	0.993958	B	0.09022	0.002	B	0.09377	0.004	T	0.21211	-1.0252	9	0.48119	T	0.1	-32.5051	4.5672	0.12193	0.1199:0.502:0.2599:0.1182	.	210	Q8N0Z2	ABRA_HUMAN	H	210	.	ENSP00000311436:Q210H	Q	-	3	2	ABRA	107850965	0.000000	0.05858	0.989000	0.46669	0.118000	0.20060	-0.066000	0.11598	0.872000	0.35775	0.655000	0.94253	CAG	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380416.1		-	ENST00000311955.3	Missense_Mutation	SNP	8 : 107781789 - 107781789 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1126	241
PLCG2	5336	broad.mit.edu	37	16	81939093	81939093	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81939093T>C	ENST00000359376.3	+	15	1662	c.1448T>C	c.(1447-1449)aTg>aCg	p.M483T		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	483					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GAGCTGTACATGTGGGATTCC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	73	71			NA	NA	16		NA											NA				81939093		2050	4192	6242	SO:0001583	missense				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	5336	5336	3.1.4.11	SH2 domain containing	9066	protein-coding gene	gene with protein product		600220			NA	7835906	Standard		XR_248240	NA	Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1448T>C	16.37:g.81939093T>C	ENSP00000352336:p.Met483Thr	NA	D3DUL3|Q3ZTS2|Q59H45|Q969T5	37	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	T	15.00	2.703665	0.48412	.	.	ENSG00000197943	ENST00000359376	T	0.66995	-0.24	5.18	5.18	0.71444	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);Pleckstrin homology-type (1);	0.043429	0.85682	D	0.000000	T	0.54224	0.1845	L	0.40543	1.245	0.80722	D	1	B;P	0.48764	0.017;0.915	B;B	0.33750	0.008;0.169	T	0.63594	-0.6602	10	0.72032	D	0.01	.	15.0501	0.71862	0.0:0.0:0.0:1.0	.	350;483	B4E3H3;P16885	.;PLCG2_HUMAN	T	483	ENSP00000352336:M483T	ENSP00000352336:M483T	M	+	2	0	PLCG2	80496594	1.000000	0.71417	1.000000	0.80357	0.525000	0.34531	5.010000	0.64004	1.964000	0.57103	0.445000	0.29226	ATG	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432429.1		+	ENST00000359376.3	Missense_Mutation	SNP	16 : 81939093 - 81939093 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	214	65
CTNNA1	1495	broad.mit.edu	37	5	138163244	138163244	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138163244G>A	ENST00000518825.1	+	6	901	c.899G>A	c.(898-900)cGc>cAc	p.R300H	CTNNA1_ENST00000355078.5_Missense_Mutation_p.R197H|CTNNA1_ENST00000302763.7_Missense_Mutation_p.R300H			P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	300					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGCGAGGAGCGCTTTAGGCCT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	0,4406		0,0,2203	72	67	69		899	5.9	1	5		69	1,8599	1.2+/-3.3	0,1,4299	no	missense	CTNNA1	NM_001903.2	29	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	possibly-damaging	300/907	138163244	1,13005	2203	4300	6503	SO:0001583	missense			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115	1495	1495			2509	protein-coding gene	gene with protein product		116805	catenin (cadherin-associated protein), alpha 1 (102kD)		NA	1924379	Standard	NM_001903	XM_005271898	NA	Approved	CAP102	uc003ldh.3	P35221		ENST00000518825.1:c.899G>A	5.37:g.138163244G>A	ENSP00000427821:p.Arg300His	NA	Q12795	37		.	.	.	.	.	.	.	.	.	.	G	25.1	4.600276	0.87055	0.0	1.16E-4	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825	T;T;T	0.42900	0.96;0.96;0.96	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.44746	0.1308	L	0.58428	1.81	0.80722	D	1	B;P	0.36010	0.211;0.532	B;B	0.34824	0.052;0.19	T	0.35895	-0.9770	10	0.45353	T	0.12	-9.6509	19.8512	0.96741	0.0:0.0:1.0:0.0	.	300;300	G3XAM7;P35221	.;CTNA1_HUMAN	H	197;300;300;285;300	ENSP00000347190:R197H;ENSP00000304669:R300H;ENSP00000427821:R300H	ENSP00000304669:R300H	R	+	2	0	CTNNA1	138191143	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.797000	0.96272	0.563000	0.77884	CGC	CTNNA1-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000373876.1		+	ENST00000518825.1	Missense_Mutation	SNP	5 : 138163244 - 138163244 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	77
MKRN1	23608	broad.mit.edu	37	7	140156610	140156610	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140156610G>A	ENST00000480552.1	-	3	275	c.179C>T	c.(178-180)gCa>gTa	p.A60V	MKRN1_ENST00000437223.2_Silent_p.S10S|MKRN1_ENST00000443720.2_Silent_p.S276S|MKRN1_ENST00000255977.2_Silent_p.S276S|MKRN1_ENST00000474576.1_Silent_p.S212S			Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	94							ligase activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					CCATGTCCTTGCTGCGCTGCA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	61	66			NA	NA	7		NA											NA				140156610		2203	4300	6503	SO:0001583	missense			AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606	23608	23608		RING-type (C3HC4) zinc fingers	7112	protein-coding gene	gene with protein product		607754			NA	10843807	Standard	NM_013446	NM_013446	NA	Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000480552.1:c.179C>T	7.37:g.140156610G>A	ENSP00000419894:p.Ala60Val	NA	A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	37		.	.	.	.	.	.	.	.	.	.	G	11.18	1.561816	0.27915	.	.	ENSG00000133606	ENST00000480552	.	.	.	5.11	-4.25	0.03766	.	.	.	.	.	T	0.64746	0.2626	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65569	-0.6136	5	0.37606	T	0.19	.	14.1562	0.65419	0.5958:0.0:0.4042:0.0	.	.	.	.	V	60	.	ENSP00000419894:A60V	A	-	2	0	MKRN1	139803079	0.199000	0.23386	0.951000	0.38953	0.999000	0.98932	-0.268000	0.08607	-0.801000	0.04427	0.655000	0.94253	GCA	MKRN1-015	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000348766.1		-	ENST00000480552.1	Missense_Mutation	SNP	7 : 140156610 - 140156610 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	258	44
IDUA	3425	broad.mit.edu	37	4	995495	995495	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:995495G>A	ENST00000247933.4	+	6	706	c.618G>A	c.(616-618)tcG>tcA	p.S206S	IDUA_ENST00000514224.1_Silent_p.S74S|IDUA_ENST00000453894.1_Silent_p.S159S	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	206					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	ATGCCTGCTCGGAGGGTCTGC	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4382		0,0,2191	12	14	13		618	-10	0.7	4		13	1,8559		0,1,4279	no	coding-synonymous	IDUA	NM_000203.3		0,1,6470	AA,AG,GG	NA	0.0117,0.0,0.0077		206/654	995495	1,12941	2191	4280	6471	SO:0001819	synonymous_variant			M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3425	3425	3.2.1.76		5391	protein-coding gene	gene with protein product		252800			NA	1832239	Standard	NM_000203	NM_000203	NA	Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.618G>A	4.37:g.995495G>A		NA		37	CCDS3343.1	.	.	.	.	.	.	.	.	.	.	G	6.077	0.382540	0.11524	0.0	1.17E-4	ENSG00000127415	ENST00000504568	.	.	.	5.05	-9.97	0.00440	.	.	.	.	.	T	0.33876	0.0878	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41752	-0.9491	4	.	.	.	-18.6917	2.4043	0.04409	0.1133:0.2242:0.3235:0.3391	.	.	.	.	Q	193	.	.	R	+	2	0	IDUA	985495	0.000000	0.05858	0.727000	0.30756	0.515000	0.34225	-3.415000	0.00479	-1.651000	0.01504	-2.577000	0.00169	CGG	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000201812.1		+	ENST00000247933.4	Silent	SNP	4 : 995495 - 995495 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	124	29
TNFRSF1B	7133	broad.mit.edu	37	1	12252968	12252968	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12252968C>T	ENST00000376259.3	+	6	689	c.600C>T	c.(598-600)tgC>tgT	p.C200C	TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	200					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	ATGCAGTCTGCACGTCCACGT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	112	125			NA	NA	1		NA											NA				12252968		2203	4300	6503	SO:0001819	synonymous_variant			M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137	7133	7133		Tumor necrosis factor receptor superfamily, CD molecules	11917	protein-coding gene	gene with protein product		191191		TNFR2	NA	2158863, 8702885	Standard	NM_001066	NM_001066	NA	Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.600C>T	1.37:g.12252968C>T		NA	B1AJZ3|Q16042|Q6YI29|Q9UIH1	37	CCDS145.1																																																																																			TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005133.1		+	ENST00000376259.3	Silent	SNP	1 : 12252968 - 12252968 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	170	12
GSE1	23199	broad.mit.edu	37	16	85696964	85696964	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85696964G>A	ENST00000253458.7	+	11	2564	c.2388G>A	c.(2386-2388)ttG>ttA	p.L796L	GSE1_ENST00000393243.1_Silent_p.L723L|GSE1_ENST00000405402.2_Silent_p.L692L	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein	NA											NA						TAGAGTTTTTGCAACTTTTTG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	123	116			NA	NA	16		NA											NA				85696964		2198	4300	6498	SO:0001819	synonymous_variant			D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149	23199	23199			28979	protein-coding gene	gene with protein product	genetic suppressor element 1		KIAA0182, Gse1 coiled-coil protein homolog (mouse)	KIAA0182	NA	8724849, 8786132	Standard	NM_014615	NM_014615	NA	Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.2388G>A	16.37:g.85696964G>A		NA		37	CCDS10952.1	.	.	.	.	.	.	.	.	.	.	G	8.887	0.953023	0.18431	.	.	ENSG00000131149	ENST00000412692	.	.	.	5.21	4.25	0.50352	.	.	.	.	.	T	0.54287	0.1849	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52177	-0.8610	4	.	.	.	-12.8675	5.6565	0.17644	0.1538:0.0:0.6779:0.1683	.	.	.	.	Y	603	.	.	C	+	2	0	KIAA0182	84254465	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.943000	0.49026	2.438000	0.82558	0.561000	0.74099	TGC	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325527.1		+	ENST00000253458.7	Silent	SNP	16 : 85696964 - 85696964 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1301	217
DDX60L	91351	broad.mit.edu	37	4	169305771	169305771	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169305771T>C	ENST00000511577.1	-	30	4355	c.4108A>G	c.(4108-4110)Aag>Gag	p.K1370E	DDX60L_ENST00000260184.7_Missense_Mutation_p.K1370E			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1370							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ACCTTTGCCTTGGCATCCTCT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	63	62			NA	NA	4		NA											NA				169305771		2203	4297	6500	SO:0001583	missense			AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381	91351	91351			26429	protein-coding gene	gene with protein product					NA		Standard	NM_001012967	XM_005263341	NA	Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.4108A>G	4.37:g.169305771T>C	ENSP00000422423:p.Lys1370Glu	NA	Q96ND6	37		.	.	.	.	.	.	.	.	.	.	T	0.034	-1.315678	0.01331	.	.	ENSG00000181381	ENST00000260184;ENST00000511577	T;T	0.17528	2.27;2.27	3.55	-2.16	0.07080	.	.	.	.	.	T	0.07007	0.0178	N	0.17379	0.485	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	T	0.42396	-0.9454	9	0.06494	T	0.89	.	4.8972	0.13757	0.0:0.2244:0.2885:0.4871	.	1370	Q5H9U9	DDX6L_HUMAN	E	1370	ENSP00000260184:K1370E;ENSP00000422423:K1370E	ENSP00000260184:K1370E	K	-	1	0	DDX60L	169542346	0.000000	0.05858	0.013000	0.15412	0.012000	0.07955	-0.047000	0.11963	-0.142000	0.11354	-0.461000	0.05368	AAG	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000364839.1		-	ENST00000511577.1	Missense_Mutation	SNP	4 : 169305771 - 169305771 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	174	34
PUS7L	83448	broad.mit.edu	37	12	44148466	44148466	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:44148466T>C	ENST00000416848.2	-	2	1071	c.583A>G	c.(583-585)Att>Gtt	p.I195V	PUS7L_ENST00000344862.5_Missense_Mutation_p.I195V|PUS7L_ENST00000551923.1_Missense_Mutation_p.I195V|PUS7L_ENST00000553166.1_Missense_Mutation_p.I195V|PUS7L_ENST00000431332.3_Intron	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	195					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TTTACAACAATTTCACTGTTT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	62	62			NA	NA	12		NA											NA				44148466		2203	4299	6502	SO:0001583	missense			BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317	83448	83448			25276	protein-coding gene	gene with protein product					NA	11230166	Standard	NM_031292	NM_001098615	NA	Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.583A>G	12.37:g.44148466T>C	ENSP00000415899:p.Ile195Val	NA	Q05CU0|Q6AHZ3|Q6NUP2	37	CCDS8743.1	.	.	.	.	.	.	.	.	.	.	T	9.974	1.226412	0.22542	.	.	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000553166	T;T;T;T	0.24538	1.98;1.98;1.98;1.85	5.08	2.65	0.31530	Pseudouridine synthase, catalytic domain (1);	0.210827	0.48767	N	0.000162	T	0.12561	0.0305	N	0.17872	0.535	0.80722	D	1	B	0.15141	0.012	B	0.14023	0.01	T	0.13255	-1.0516	10	0.13470	T	0.59	-16.7902	5.653	0.17627	0.0:0.1542:0.143:0.7028	.	195	Q9H0K6	PUS7L_HUMAN	V	195	ENSP00000415899:I195V;ENSP00000343081:I195V;ENSP00000447706:I195V;ENSP00000446865:I195V	ENSP00000343081:I195V	I	-	1	0	PUS7L	42434733	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.344000	0.44010	0.450000	0.26774	0.482000	0.46254	ATT	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403931.1		-	ENST00000416848.2	Missense_Mutation	SNP	12 : 44148466 - 44148466 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	345	83
CROCC	9696	broad.mit.edu	37	1	17281832	17281832	+	Missense_Mutation	SNP	G	G	A	rs145972878	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17281832G>A	ENST00000375541.5	+	24	3560	c.3491G>A	c.(3490-3492)cGt>cAt	p.R1164H		NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1164					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		ACCCAGCTGCGTCTGCTGGAG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	0,4370		0,0,2185	22	26	24		3491	2.4	1	1	dbSNP_134	24	8,8572		0,8,4282	yes	missense	CROCC	NM_014675.3	29	0,8,6467	AA,AG,GG	NA	0.0932,0.0,0.0618	benign	1164/2018	17281832	8,12942	2185	4290	6475	SO:0001583	missense			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453	9696	9696			21299	protein-coding gene	gene with protein product	rootletin, ciliary rootlet protein	615776			NA	12427867, 17971504	Standard	NM_014675	XM_006711056	NA	Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.3491G>A	1.37:g.17281832G>A	ENSP00000364691:p.Arg1164His	NA	Q2VHY3|Q66GT7|Q7Z2L4|Q7Z5D7	37	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	G	9.156	1.017534	0.19355	0.0	9.32E-4	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.54479	0.57	4.31	2.39	0.29439	.	.	.	.	.	T	0.42810	0.1219	L	0.45137	1.4	0.28356	N	0.920651	B;B	0.10296	0.003;0.003	B;B	0.08055	0.002;0.003	T	0.40794	-0.9544	9	0.54805	T	0.06	.	8.2951	0.31980	0.2008:0.0:0.7992:0.0	.	467;1164	Q5TZA2-2;Q5TZA2	.;CROCC_HUMAN	H	1164;1045	ENSP00000364691:R1164H	ENSP00000364691:R1164H	R	+	2	0	CROCC	17154419	0.008000	0.16893	0.998000	0.56505	0.024000	0.10985	0.109000	0.15417	1.113000	0.41760	0.561000	0.74099	CGT	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006249.2		+	ENST00000375541.5	Missense_Mutation	SNP	1 : 17281832 - 17281832 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	284	18
TTLL4	9654	broad.mit.edu	37	2	219602698	219602698	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219602698G>A	ENST00000392102.1	+	3	639	c.299G>A	c.(298-300)aGc>aAc	p.S100N	TTLL4_ENST00000457313.1_5'UTR|TTLL4_ENST00000442769.1_Missense_Mutation_p.S100N|TTLL4_ENST00000258398.4_Missense_Mutation_p.S100N	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	100					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GCAGGCCACAGCAGTTCCTGT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(172;1818 2053 15407 20943 49753)							NA				0													92	89	90			NA	NA	2		NA											NA				219602698		2203	4300	6503	SO:0001583	missense				CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912	9654	9654		Tubulin tyrosine ligase-like family	28976	protein-coding gene	gene with protein product					NA	11054573	Standard	NM_014640	NM_014640	NA	Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.299G>A	2.37:g.219602698G>A	ENSP00000375951:p.Ser100Asn	NA	A8K6V5|Q8WW29	37	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	G	9.377	1.072001	0.20147	.	.	ENSG00000135912	ENST00000415717;ENST00000392102;ENST00000437755;ENST00000442769;ENST00000424644;ENST00000258398	T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9	4.72	4.72	0.59763	.	0.309004	0.28515	N	0.015069	T	0.16727	0.0402	N	0.24115	0.695	0.23720	N	0.99703	B;B	0.23058	0.079;0.079	B;B	0.20955	0.032;0.021	T	0.11203	-1.0597	10	0.56958	D	0.05	.	8.7699	0.34726	0.1007:0.0:0.8993:0.0	.	100;100	E7EX20;Q14679	.;TTLL4_HUMAN	N	100	ENSP00000411228:S100N;ENSP00000375951:S100N;ENSP00000391342:S100N;ENSP00000396555:S100N;ENSP00000405485:S100N;ENSP00000258398:S100N	ENSP00000258398:S100N	S	+	2	0	TTLL4	219310942	0.006000	0.16342	0.911000	0.35937	0.494000	0.33585	1.061000	0.30542	2.441000	0.82636	0.563000	0.77884	AGC	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256726.1		+	ENST00000392102.1	Missense_Mutation	SNP	2 : 219602698 - 219602698 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	713	190
BAD	572	broad.mit.edu	37	11	64051656	64051656	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64051656C>T	ENST00000394531.3	-	2	215	c.185G>A	c.(184-186)gGa>gAa	p.G62E	BAD_ENST00000309032.3_Missense_Mutation_p.G62E|BAD_ENST00000394532.3_Missense_Mutation_p.G62E|BAD_ENST00000544785.1_Missense_Mutation_p.G62E			Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	62					activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						GTACTTACCTCCATGATGGCT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	52	57			NA	NA	11		NA											NA				64051656		2196	4283	6479	SO:0001583	missense			AF021792	CCDS8065.1	11q13.1	2014-03-07	2008-08-19		ENSG00000002330	ENSG00000002330	572	572			936	protein-coding gene	gene with protein product		603167			NA	8929532	Standard	NM_032989	NM_004322	NA	Approved	BCL2L8, BBC2	uc001nzd.3	Q92934	OTTHUMG00000134302	ENST00000394531.3:c.185G>A	11.37:g.64051656C>T	ENSP00000378039:p.Gly62Glu	NA	O14803	37		.	.	.	.	.	.	.	.	.	.	C	15.66	2.898415	0.52227	.	.	ENSG00000002330	ENST00000394532;ENST00000540152;ENST00000309032;ENST00000544785;ENST00000394531	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	3.84	2.92	0.33932	.	0.452778	0.19726	N	0.107474	T	0.60573	0.2279	M	0.67953	2.075	0.80722	D	1	D;D	0.76494	0.999;0.967	D;P	0.69654	0.965;0.769	T	0.61297	-0.7091	10	0.66056	D	0.02	-22.4463	7.4518	0.27242	0.0:0.8821:0.0:0.1179	.	62;62	A8MXU7;Q92934	.;BAD_HUMAN	E	62	ENSP00000378040:G62E;ENSP00000309103:G62E;ENSP00000440575:G62E;ENSP00000378039:G62E	ENSP00000309103:G62E	G	-	2	0	BAD	63808232	1.000000	0.71417	1.000000	0.80357	0.315000	0.28087	0.870000	0.28010	1.187000	0.43000	0.561000	0.74099	GGA	BAD-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000259181.1		-	ENST00000394531.3	Missense_Mutation	SNP	11 : 64051656 - 64051656 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	364	70
ARFGEF2	10564	broad.mit.edu	37	20	47582460	47582460	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47582460T>C	ENST00000371917.4	+	8	959	c.959T>C	c.(958-960)cTg>cCg	p.L320P		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	320					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CTAGGTGAACTGGAGTGCCAG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(176;1738 1974 26285 33069 35354)							NA				0													141	123	129			NA	NA	20		NA											NA				47582460		2203	4300	6503	SO:0001583	missense			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198	10564	10564		A-kinase anchor proteins	15853	protein-coding gene	gene with protein product	Brefeldin A-inhibited guanine nucleotide-exchange protein 2	605371			NA	10212200	Standard	NM_006420	NM_006420	NA	Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.959T>C	20.37:g.47582460T>C	ENSP00000360985:p.Leu320Pro	NA	Q5TFT9|Q9NTS1	37	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	T	10.67	1.415843	0.25552	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.23950	1.88	5.77	1.91	0.25777	Armadillo-type fold (1);	1.860230	0.02204	N	0.062554	T	0.19167	0.0460	N	0.19112	0.55	0.20821	N	0.999841	B	0.24533	0.105	B	0.20384	0.029	T	0.22173	-1.0224	10	0.30854	T	0.27	.	8.4988	0.33146	0.0:0.2371:0.0:0.7629	.	320	Q9Y6D5	BIG2_HUMAN	P	320	ENSP00000360985:L320P	ENSP00000360985:L320P	L	+	2	0	ARFGEF2	47015867	0.201000	0.23410	0.163000	0.22734	0.955000	0.61496	0.678000	0.25277	0.331000	0.23511	0.379000	0.24179	CTG	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079627.1		+	ENST00000371917.4	Missense_Mutation	SNP	20 : 47582460 - 47582460 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	555	111
MED12	9968	broad.mit.edu	37	X	70348222	70348222	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70348222C>A	ENST00000374102.1	+	23	3346	c.3286C>A	c.(3286-3288)Ctt>Att	p.L1096I	MED12_ENST00000333646.6_Missense_Mutation_p.L1096I|MED12_ENST00000374080.3_Missense_Mutation_p.L1096I			Q93074	MED12_HUMAN	mediator complex subunit 12	1096					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GCTAGGAGTGCTTAAGGCCTT	0.507		NA	M, S		uterine leiomyoma		Opitz-Kaveggia Syndrome							NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0													122	115	117			NA	NA	X		NA											NA				70348222		2134	4235	6369	SO:0001583	missense			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634	9968	9968			11957	protein-coding gene	gene with protein product		300188	trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit), mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae), FG syndrome 1	TNRC11, FGS1	NA	9225980, 10198638, 17334363, 20507344	Standard	NM_005120	NM_005120	NA	Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374102.1:c.3286C>A	X.37:g.70348222C>A	ENSP00000363215:p.Leu1096Ile	NA	O15410|O75557|Q9UHV6|Q9UND7	37		.	.	.	.	.	.	.	.	.	.	.	22.4	4.291488	0.80914	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.57607	0.2065	L	0.53561	1.675	0.80722	D	1	D;D;P;D	0.65815	0.995;0.988;0.815;0.98	P;P;P;P	0.62435	0.902;0.885;0.551;0.881	T	0.58923	-0.7550	10	0.49607	T	0.09	-12.9991	17.1584	0.86797	0.0:1.0:0.0:0.0	.	1096;943;1096;1096	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	I	1096;1096;1096;1096;1064	ENSP00000333125:L1096I;ENSP00000363215:L1096I;ENSP00000363193:L1096I;ENSP00000414203:L1064I	ENSP00000333125:L1096I	L	+	1	0	MED12	70264947	1.000000	0.71417	0.156000	0.22583	0.994000	0.84299	7.100000	0.76989	2.318000	0.78349	0.597000	0.82753	CTT	MED12-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000057104.1		+	ENST00000374102.1	Missense_Mutation	SNP	X : 70348222 - 70348222 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	477	162
DHX30	22907	broad.mit.edu	37	3	47891449	47891449	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47891449C>T	ENST00000348968.4	+	23	3760	c.3340C>T	c.(3340-3342)Cgg>Tgg	p.R1114W	DHX30_ENST00000457607.1_Missense_Mutation_p.R1170W|DHX30_ENST00000446256.2_Missense_Mutation_p.R1103W|DHX30_ENST00000445061.1_Missense_Mutation_p.R1142W			Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	1142						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GAAGGAGCTGCGGCGGGCCCT	0.697		NA									OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	24	24			NA	NA	3		NA											NA				47891449		2200	4297	6497	SO:0001583	missense			AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153	22907	22907		DEAH-boxes	16716	protein-coding gene	gene with protein product			DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30, DEAH (Asp-Glu-Ala-His) box polypeptide 30	DDX30	NA	10048485, 18022663	Standard	NM_138615	NM_138615	NA	Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000348968.4:c.3340C>T	3.37:g.47891449C>T	ENSP00000343442:p.Arg1114Trp	950	A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	37		.	.	.	.	.	.	.	.	.	.	C	21.9	4.214897	0.79352	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.10192	2.95;2.92;2.94;2.9	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.22399	0.0540	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.03662	-1.1015	10	0.87932	D	0	.	16.6955	0.85334	0.0:1.0:0.0:0.0	.	1142;1103	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	W	1103;1142;1114;1170	ENSP00000392601:R1103W;ENSP00000405620:R1142W;ENSP00000343442:R1114W;ENSP00000394682:R1170W	ENSP00000343442:R1114W	R	+	1	2	DHX30	47866453	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.851000	0.55926	2.160000	0.67779	0.462000	0.41574	CGG	DHX30-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000346137.1		+	ENST00000348968.4	Missense_Mutation	SNP	3 : 47891449 - 47891449 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	261	35
MEX3A	92312	broad.mit.edu	37	1	156047062	156047062	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156047062G>A	ENST00000532414.2	-	2	865	c.866C>T	c.(865-867)gCg>gTg	p.A289V	MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	289						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					AGTGCGCACCGCGATGTGCGT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	141	139			NA	NA	1		NA											NA				156047062		2157	4251	6408	SO:0001583	missense			AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726	92312	92312		RING-type (C3HC4) zinc fingers, Mex-3 homologs	33482	protein-coding gene	gene with protein product		611007	ring finger and KH domain containing 4, mex-3 homolog A (C. elegans)	RKHD4	NA	17267406	Standard	NM_001093725	NM_001093725	NA	Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.866C>T	1.37:g.156047062G>A	ENSP00000432845:p.Ala289Val	NA		37	CCDS53377.1	.	.	.	.	.	.	.	.	.	.	G	32	5.145694	0.94603	.	.	ENSG00000254726	ENST00000532414	T	0.44083	0.93	5.3	5.3	0.74995	K Homology (1);	0.000000	0.85682	D	0.000000	T	0.46092	0.1375	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	P	0.56434	0.798	T	0.47995	-0.9073	10	0.72032	D	0.01	.	17.5189	0.87782	0.0:0.0:1.0:0.0	.	289	A1L020	MEX3A_HUMAN	V	289	ENSP00000432845:A289V	ENSP00000432845:A289V	A	-	2	0	MEX3A	154313686	1.000000	0.71417	0.965000	0.40720	0.960000	0.62799	9.869000	0.99810	2.477000	0.83638	0.313000	0.20887	GCG	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046218.3		-	ENST00000532414.2	Missense_Mutation	SNP	1 : 156047062 - 156047062 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	62
MUC17	140453	broad.mit.edu	37	7	100681006	100681006	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100681006A>G	ENST00000306151.4	+	3	6373	c.6309A>G	c.(6307-6309)ctA>ctG	p.L2103L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2103	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					GAAGTCCTCTACTAACAAGTA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													201	202	201			NA	NA	7		NA											NA				100681006		2203	4300	6503	SO:0001819	synonymous_variant			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.6309A>G	7.37:g.100681006A>G		NA	O14761|Q685J2|Q8TDH7	37	CCDS34711.1																																																																																			MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347161.1		+	ENST00000306151.4	Silent	SNP	7 : 100681006 - 100681006 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1690	317
TOP2B	7155	broad.mit.edu	37	3	25660243	25660243	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:25660243C>T	ENST00000435706.2	-	24	3347	c.3146G>A	c.(3145-3147)cGt>cAt	p.R1049H	TOP2B_ENST00000542520.1_5'UTR|TOP2B_ENST00000264331.4_Missense_Mutation_p.R1054H			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1054					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						CCACTCCTTACGTAAACCGTA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	53	53			NA	NA	3		NA											NA				25660243		1835	4083	5918	SO:0001583	missense			X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	7155	7155	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	topoisomerase (DNA) II beta (180kD)		NA	1309226, 1333583	Standard		NM_001068	NA	Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000435706.2:c.3146G>A	3.37:g.25660243C>T	ENSP00000396704:p.Arg1049His	NA	Q13600|Q9UMG8|Q9UQP8	37	CCDS46776.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.890974	0.91889	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.68903	-0.36;-0.36	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.88187	0.6369	H	0.95745	3.715	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90894	0.4763	10	0.87932	D	0	-0.216	20.038	0.97570	0.0:1.0:0.0:0.0	.	1049	Q02880-2	.	H	1049;1054;1049	ENSP00000396704:R1049H;ENSP00000264331:R1054H	ENSP00000264331:R1054H	R	-	2	0	TOP2B	25635247	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.818000	0.86416	2.737000	0.93849	0.557000	0.71058	CGT	TOP2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340821.1		-	ENST00000435706.2	Missense_Mutation	SNP	3 : 25660243 - 25660243 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	154	35
AFF1	4299	broad.mit.edu	37	4	88047336	88047336	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88047336C>T	ENST00000307808.6	+	13	3058	c.2638C>T	c.(2638-2640)Cct>Tct	p.P880S	AFF1_ENST00000395146.4_Missense_Mutation_p.P887S|AFF1_ENST00000544085.1_Missense_Mutation_p.P518S	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	880						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GCCAGCCAAGCCTGCACTTAA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	72	72			NA	NA	4		NA											NA				88047336		2203	4300	6503	SO:0001583	missense			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493	4299	4299			7135	protein-coding gene	gene with protein product		159557	myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2, pre-B-cell monocytic leukemia partner 1	PBM1, MLLT2	NA	7689231, 1423625, 8353274	Standard	NM_005935	NM_005935	NA	Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.2638C>T	4.37:g.88047336C>T	ENSP00000305689:p.Pro880Ser	NA		37	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	7.894	0.732993	0.15507	.	.	ENSG00000172493	ENST00000395146;ENST00000307808;ENST00000544085	T;T;T	0.68624	-0.34;-0.34;-0.34	5.65	0.25	0.15535	.	0.463760	0.20292	N	0.095213	T	0.51669	0.1688	M	0.65975	2.015	0.31347	N	0.682981	B;B;B	0.14438	0.01;0.01;0.01	B;B;B	0.15052	0.012;0.012;0.012	T	0.37911	-0.9685	10	0.09084	T	0.74	-1.5827	2.1445	0.03783	0.1853:0.4709:0.0986:0.2452	.	887;880;880	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	S	887;880;518	ENSP00000378578:P887S;ENSP00000305689:P880S;ENSP00000440843:P518S	ENSP00000305689:P880S	P	+	1	0	AFF1	88266360	0.575000	0.26692	0.996000	0.52242	0.291000	0.27294	0.436000	0.21526	0.061000	0.16311	-0.142000	0.14014	CCT	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253053.3		+	ENST00000307808.6	Missense_Mutation	SNP	4 : 88047336 - 88047336 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	562	90
SYNJ2	8871	broad.mit.edu	37	6	158495692	158495692	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158495692C>T	ENST00000355585.4	+	16	2289	c.2214C>T	c.(2212-2214)gtC>gtT	p.V738V	SYNJ2_ENST00000367121.3_Silent_p.V738V|SYNJ2_ENST00000367122.2_Silent_p.V738V	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	738							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ATGAAGAAGTCTTCTATTTTG	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	104	106			NA	NA	6		NA											NA				158495692		2203	4300	6503	SO:0001819	synonymous_variant			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269	8871	8871			11504	protein-coding gene	gene with protein product		609410			NA		Standard		NM_003898	NA	Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.2214C>T	6.37:g.158495692C>T		NA	Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	37	CCDS5254.1																																																																																			SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042858.2		+	ENST00000355585.4	Silent	SNP	6 : 158495692 - 158495692 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	461	109
KCNN4	3783	broad.mit.edu	37	19	44278573	44278573	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44278573G>A	ENST00000262888.3	-	3	849	c.454C>T	c.(454-456)Ctg>Ttg	p.L152L		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	152					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	GCCAGGGACAGCAGCGCTTCC	0.731		NA									OREG0025535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	13	13			NA	NA	19		NA											NA				44278573		2183	4287	6470	SO:0001819	synonymous_variant			AF022797	CCDS12630.1	19q13.2	2012-07-05				ENSG00000104783	3783	3783		Potassium channels, Voltage-gated ion channels / Potassium channels, calcium-activated	6293	protein-coding gene	gene with protein product		602754			NA	9380751, 9407042, 16382103	Standard	NM_002250	NM_002250	NA	Approved	KCa3.1, hSK4, hKCa4, hIKCa1	uc002oxl.3	O15554		ENST00000262888.3:c.454C>T	19.37:g.44278573G>A		922	Q53XR4	37	CCDS12630.1																																																																																			KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463598.1		-	ENST00000262888.3	Silent	SNP	19 : 44278573 - 44278573 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	77	13
DIP2B	57609	broad.mit.edu	37	12	51068306	51068306	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51068306A>G	ENST00000301180.5	+	6	724	c.690A>G	c.(688-690)tcA>tcG	p.S230S		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	230	Ser-rich.					nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CTTCCTCCTCATCATCTTCCT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	123	129			NA	NA	12		NA											NA				51068306		2203	4300	6503	SO:0001819	synonymous_variant			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084	57609	57609			29284	protein-coding gene	gene with protein product		611379			NA		Standard	NM_173602	XM_005269044	NA	Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.690A>G	12.37:g.51068306A>G		NA	Q6B011|Q8N1L5|Q8NB38	37	CCDS31799.1																																																																																			DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404243.1		+	ENST00000301180.5	Silent	SNP	12 : 51068306 - 51068306 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	355	49
SLC40A1	30061	broad.mit.edu	37	2	190426914	190426914	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190426914A>G	ENST00000261024.2	-	8	1832	c.1406T>C	c.(1405-1407)cTt>cCt	p.L469P		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	469					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			AAAGGACCAAAGACCtataat	0.284		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	25	25			NA	NA	2		NA											NA				190426914		2201	4299	6500	SO:0001583	missense			AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449	30061	30061		Solute carriers	10909	protein-coding gene	gene with protein product	ferroportin 1	604653	solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3	SLC11A3	NA	10828623	Standard		NM_014585	NA	Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.1406T>C	2.37:g.190426914A>G	ENSP00000261024:p.Leu469Pro	NA	Q7Z4F8|Q8IVB2|Q9NRL0	37	CCDS2299.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.920082	0.73098	.	.	ENSG00000138449	ENST00000261024	D	0.97016	-4.21	5.92	4.77	0.60923	Major facilitator superfamily domain, general substrate transporter (1);	0.053633	0.85682	N	0.000000	D	0.98049	0.9357	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98278	1.0507	10	0.87932	D	0	-12.7045	11.7231	0.51693	0.9315:0.0:0.0685:0.0	.	469	Q9NP59	S40A1_HUMAN	P	469	ENSP00000261024:L469P	ENSP00000261024:L469P	L	-	2	0	SLC40A1	190135159	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.339000	0.96797	1.078000	0.41014	0.477000	0.44152	CTT	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255916.2		-	ENST00000261024.2	Missense_Mutation	SNP	2 : 190426914 - 190426914 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	172	41
HID1	283987	broad.mit.edu	37	17	72956031	72956031	+	Splice_Site	SNP	G	G	A	rs144555805	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72956031G>A	ENST00000425042.2	-	8	1030	c.953C>T	c.(952-954)cCt>cTt	p.P318L		NM_030630.2	NP_085133.1			HID1 domain containing	NA											NA						AGGGCCTGGAGGCTGCCAAGA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	LEU/PRO	2,4404	4.2+/-10.8	0,2,2201	94	88	90		953	5	1	17	dbSNP_134	90	6,8594	5.0+/-18.6	0,6,4294	yes	missense-near-splice	C17orf28	NM_030630.2	98	0,8,6495	AA,AG,GG	NA	0.0698,0.0454,0.0615	benign	318/789	72956031	8,12998	2203	4300	6503	SO:0001630	splice_region_variant				CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861	283987	283987			15736	protein-coding gene	gene with protein product	downregulated in multiple cancer 1	605752	chromosome 17 open reading frame 28	C17orf28	NA	11281419, 21337012	Standard	NM_030630	NM_030630	NA	Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.952-1C>T	17.37:g.72956031G>A		NA		37	CCDS32726.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.761941	0.49468	4.54E-4	6.98E-4	ENSG00000167861	ENST00000525426;ENST00000425042;ENST00000318565;ENST00000530857	.	.	.	5.0	5.0	0.66597	.	0.280366	0.36034	N	0.002829	T	0.54159	0.1841	L	0.38531	1.155	0.58432	D	0.999997	B;B	0.23806	0.074;0.091	B;B	0.33121	0.098;0.158	T	0.48843	-0.8999	9	0.19147	T	0.46	-8.3614	13.6343	0.62213	0.0:0.1556:0.8444:0.0	.	317;318	Q8IV36-2;Q8IV36	.;CQ028_HUMAN	L	90;318;90;210	.	ENSP00000317795:P90L	P	-	2	0	C17orf28	70467626	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	6.366000	0.73095	2.291000	0.77112	0.561000	0.74099	CCT	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390011.2	Missense_Mutation	-	ENST00000425042.2	Splice_Site	SNP	17 : 72956031 - 72956031 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	682	117
DLX6	1750	broad.mit.edu	37	7	96639212	96639212	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:96639212G>A	ENST00000518156.2	+	3	1165	c.735G>A	c.(733-735)tcG>tcA	p.S245S	DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6_ENST00000555308.1_Silent_p.S117S|DLX6_ENST00000007660.5_Silent_p.S217S|DLX6-AS1_ENST00000458352.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	127					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CGGCCCTGTCGCCACGCTCGC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	40	38			NA	NA	7		NA											NA				96639212		2166	4274	6440	SO:0001819	synonymous_variant				CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377	1750	1750		Homeoboxes / ANTP class : NKL subclass	2919	protein-coding gene	gene with protein product		600030	distal-less homeo box 6		NA	7907794	Standard	NM_005222	NM_005222	NA	Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.735G>A	7.37:g.96639212G>A		NA	A4D1I2|B3KSQ0|Q3ZAR6|Q9UPL2	37	CCDS47647.2																																																																																			DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334373.4		+	ENST00000518156.2	Silent	SNP	7 : 96639212 - 96639212 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	310	65
C4orf33	132321	broad.mit.edu	37	4	130032917	130032917	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:130032917C>A	ENST00000281146.5	+	6	1292	c.571C>A	c.(571-573)Ctg>Atg	p.L191M	C4orf33_ENST00000425929.1_Missense_Mutation_p.L191M	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN	chromosome 4 open reading frame 33	NA										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GGAATCAGACCTGTGGCTAAT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	91	91			NA	NA	4		NA											NA				130032917		2203	4300	6503	SO:0001583	missense			AK091022	CCDS3741.1	4q28.2	2008-02-05			ENSG00000151470	ENSG00000151470	132321	132321			27025	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_173487	NM_001099783	NA	Approved	FLJ33703	uc010iod.3	Q8N1A6	OTTHUMG00000133347	ENST00000281146.5:c.571C>A	4.37:g.130032917C>A	ENSP00000281146:p.Leu191Met	NA	D3DNY2|Q6PJF3|Q8NBC5	37	CCDS3741.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448617	0.63178	.	.	ENSG00000151470	ENST00000281146;ENST00000425929	T;T	0.23950	1.88;1.88	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.56202	0.1969	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58429	-0.7638	10	0.66056	D	0.02	-42.9836	18.7332	0.91744	0.0:1.0:0.0:0.0	.	191	Q8N1A6	CD033_HUMAN	M	191	ENSP00000281146:L191M;ENSP00000401090:L191M	ENSP00000281146:L191M	L	+	1	2	C4orf33	130252367	1.000000	0.71417	0.999000	0.59377	0.155000	0.21991	2.553000	0.45837	2.722000	0.93159	0.650000	0.86243	CTG	C4orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257177.2		+	ENST00000281146.5	Missense_Mutation	SNP	4 : 130032917 - 130032917 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	55
C11orf30	56946	broad.mit.edu	37	11	76257202	76257202	+	Missense_Mutation	SNP	C	C	T	rs150867470	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76257202C>T	ENST00000533248.1	+	17	3401	c.3362C>T	c.(3361-3363)tCg>tTg	p.S1121L	C11orf30_ENST00000524490.1_Missense_Mutation_p.S1114L|C11orf30_ENST00000529032.1_Missense_Mutation_p.S1212L|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000524767.1_Missense_Mutation_p.S1227L|C11orf30_ENST00000525919.1_Missense_Mutation_p.S1213L|C11orf30_ENST00000334736.3_Missense_Mutation_p.S1212L|C11orf30_ENST00000525038.1_Missense_Mutation_p.S1213L			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1212					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GAGTCCTGTTCGAGTCCATCC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	LEU/SER	6,4394	11.4+/-27.6	0,6,2194	85	87	86		3635	6.1	1	11	dbSNP_134	86	0,8584		0,0,4292	yes	missense	C11orf30	NM_020193.3	145	0,6,6486	TT,TC,CC	NA	0.0,0.1364,0.0462	possibly-damaging	1212/1323	76257202	6,12978	2200	4292	6492	SO:0001583	missense			AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636	56946	56946			18071	protein-coding gene	gene with protein product		608574			NA		Standard	NM_020193	XM_005274106	NA	Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000533248.1:c.3362C>T	11.37:g.76257202C>T	ENSP00000433634:p.Ser1121Leu	NA	Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.38|13.38	2.219679|2.219679	0.39201|0.39201	0.001364|0.001364	0.0|0.0	ENSG00000158636|ENSG00000158636	ENST00000531793|ENST00000524490;ENST00000334736;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.|.	.|.	.|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	.|0.151517	.|0.45867	.|D	.|0.000338	.|T	.|0.51329	.|0.1668	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|D;B;B;P;B;P	.|0.63880	.|0.993;0.273;0.273;0.828;0.273;0.828	.|P;B;B;B;B;B	.|0.56163	.|0.793;0.041;0.041;0.097;0.041;0.097	.|T	.|0.56153	.|-0.8026	.|9	.|0.72032	.|D	.|0.01	-7.9955|-7.9955	15.3534|15.3534	0.74409|0.74409	0.1395:0.8605:0.0:0.0|0.1395:0.8605:0.0:0.0	.|.	.|1121;1213;1227;1213;1114;1212	.|B7ZKT8;B7ZKU2;B7ZKU0;Q17RM7;E9PMC9;Q7Z589	.|.;.;.;.;.;EMSY_HUMAN	X|L	71|1114;1212;894;1227;1121;1213;1213;1212	.|.	.|ENSP00000334130:S1212L	R|S	+|+	1|2	2|0	C11orf30|C11orf30	75934850|75934850	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.003000|4.003000	0.57061|0.57061	2.879000|2.879000	0.98667|0.98667	0.650000|0.650000	0.86243|0.86243	CGA|TCG	C11orf30-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000383204.1		+	ENST00000533248.1	Missense_Mutation	SNP	11 : 76257202 - 76257202 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	475	95
TRO	7216	broad.mit.edu	37	X	54954201	54954201	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54954201A>C	ENST00000173898.7	+	11	1977	c.1865A>C	c.(1864-1866)aAg>aCg	p.K622T	TRO_ENST00000420798.2_Missense_Mutation_p.K153T|TRO_ENST00000375041.2_Missense_Mutation_p.K225T|TRO_ENST00000399736.1_Missense_Mutation_p.K225T|TRO_ENST00000375022.4_Missense_Mutation_p.K622T|TRO_ENST00000319167.8_Missense_Mutation_p.K622T	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	622	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						AAAGTCCTCAAGTTTGCATGC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	54	55			NA	NA	X		NA											NA				54954201		2200	4299	6499	SO:0001583	missense			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445	7216	7216			12326	protein-coding gene	gene with protein product		300132			NA	9533028, 11454705	Standard	NM_016157	NM_001039705	NA	Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1865A>C	X.37:g.54954201A>C	ENSP00000173898:p.Lys622Thr	NA	Q9NU89|Q9UPN8	37	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	A	15.01	2.706036	0.48412	.	.	ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022;ENST00000399736;ENST00000319179;ENST00000420798;ENST00000375041	T;T;T;T;T;T	0.06849	3.94;3.7;3.7;3.55;3.25;3.59	3.1	1.94	0.25998	.	.	.	.	.	T	0.18383	0.0441	L	0.49513	1.565	0.30932	N	0.726759	D;P;P;D	0.76494	0.999;0.938;0.573;0.998	D;P;B;D	0.75484	0.958;0.521;0.376;0.986	T	0.08432	-1.0722	9	0.87932	D	0	.	5.5264	0.16960	0.8559:0.0:0.1441:0.0	.	225;225;622;622	B1AKE9;B1AKF1;Q96SX2;Q12816	.;.;.;TROP_HUMAN	T	622;622;622;225;225;153;225	ENSP00000173898:K622T;ENSP00000318278:K622T;ENSP00000364162:K622T;ENSP00000382641:K225T;ENSP00000405126:K153T;ENSP00000364181:K225T	ENSP00000173898:K622T	K	+	2	0	TRO	54970926	1.000000	0.71417	0.981000	0.43875	0.995000	0.86356	1.126000	0.31344	0.443000	0.26582	0.417000	0.27973	AAG	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056837.3		+	ENST00000173898.7	Missense_Mutation	SNP	X : 54954201 - 54954201 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	151	27
PSMC4	5704	broad.mit.edu	37	19	40486024	40486024	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40486024G>A	ENST00000157812.2	+	8	1087	c.889G>A	c.(889-891)Gat>Aat	p.D297N	PSMC4_ENST00000455878.2_Missense_Mutation_p.D266N	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	297					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GAATCAGATGGATGGATTTGA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(105;1478 1543 4034 6132 38638)							NA				0													163	158	159			NA	NA	19		NA											NA				40486024		2203	4300	6503	SO:0001583	missense			U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275	5704	5704		Proteasome (prosome, macropain) subunits, ATPases / AAA-type	9551	protein-coding gene	gene with protein product	protease 26S subunit 6, Tat-binding protein 7, MB67 interacting protein	602707		MIP224	NA	9473509, 8603043	Standard	NM_006503	NM_006503	NA	Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.889G>A	19.37:g.40486024G>A	ENSP00000157812:p.Asp297Asn	NA	Q96FV5|Q9UBM3|Q9UEX3	37	CCDS12547.1	.	.	.	.	.	.	.	.	.	.	g	22.7	4.319831	0.81469	.	.	ENSG00000013275	ENST00000157812;ENST00000455878	D;D	0.95918	-3.85;-3.85	6.06	6.06	0.98353	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.98188	0.9401	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98674	1.0689	10	0.87932	D	0	-21.9217	18.1147	0.89549	0.0:0.0:1.0:0.0	.	266;297	P43686-2;P43686	.;PRS6B_HUMAN	N	297;266	ENSP00000157812:D297N;ENSP00000413869:D266N	ENSP00000157812:D297N	D	+	1	0	PSMC4	45177864	1.000000	0.71417	1.000000	0.80357	0.278000	0.26855	7.736000	0.84948	2.882000	0.98803	0.655000	0.94253	GAT	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462485.1		+	ENST00000157812.2	Missense_Mutation	SNP	19 : 40486024 - 40486024 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	316	12
MC3R	4159	broad.mit.edu	37	20	54824796	54824796	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54824796C>T	ENST00000243911.2	+	1	1009	c.897C>T	c.(895-897)taC>taT	p.Y299Y		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	336					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CACTCATCTACGCTTTCCGGA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													188	175	179			NA	NA	20		NA											NA				54824796		2203	4300	6503	SO:0001819	synonymous_variant				CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089	4159	4159		GPCR / Class A : Melanocortin receptors	6931	protein-coding gene	gene with protein product		155540			NA	8463333	Standard		NM_019888	NA	Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.897C>T	20.37:g.54824796C>T		NA	Q4KN27|Q9H517	37	CCDS13449.2																																																																																			MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079786.2		+	ENST00000243911.2	Silent	SNP	20 : 54824796 - 54824796 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	940	24
PRKD3	23683	broad.mit.edu	37	2	37509721	37509721	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37509721G>A	ENST00000379066.1	-	7	1714	c.952C>T	c.(952-954)Cca>Tca	p.P318S	PRKD3_ENST00000234179.2_Missense_Mutation_p.P318S			O94806	KPCD3_HUMAN	protein kinase D3	318					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				CAGTCTCTTGGTACTTTTGAT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(80;621 1355 8613 11814 51767)							NA				0													117	117	117			NA	NA	2		NA											NA				37509721		2203	4300	6503	SO:0001583	missense			AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825	23683	23683		Pleckstrin homology (PH) domain containing	9408	protein-coding gene	gene with protein product		607077	protein kinase C, nu	PRKCN	NA	10231560	Standard	NM_005813	NM_005813	NA	Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.952C>T	2.37:g.37509721G>A	ENSP00000368356:p.Pro318Ser	NA	D6W587|Q53TR7|Q8NEL8	37	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	G	34	5.320904	0.95682	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	D;D	0.92911	-3.13;-3.13	5.62	5.62	0.85841	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.000000	0.85682	D	0.000000	D	0.95918	0.8671	M	0.73319	2.225	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.80764	0.988;0.994	D	0.95794	0.8827	10	0.87932	D	0	-14.6863	20.024	0.97514	0.0:0.0:1.0:0.0	.	318;318	O94806-2;O94806	.;KPCD3_HUMAN	S	318	ENSP00000368356:P318S;ENSP00000234179:P318S	ENSP00000234179:P318S	P	-	1	0	PRKD3	37363225	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.809000	0.96659	0.655000	0.94253	CCA	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000218570.3		-	ENST00000379066.1	Missense_Mutation	SNP	2 : 37509721 - 37509721 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	402	129
ZNF609	23060	broad.mit.edu	37	15	64962610	64962610	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64962610C>T	ENST00000326648.3	+	3	1167	c.1039C>T	c.(1039-1041)Cga>Tga	p.R347*	ZNF609_ENST00000559364.1_3'UTR	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	347						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGACTGCACACGACATGATTG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													259	213	229			NA	NA	15		NA											NA				64962610		2203	4299	6502	SO:0001587	stop_gained			BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357	23060	23060		Zinc fingers, C2H2-type	29003	protein-coding gene	gene with protein product					NA	9205841	Standard	XM_042833	NM_015042	NA	Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.1039C>T	15.37:g.64962610C>T	ENSP00000316527:p.Arg347*	NA	Q0D2I2	37	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	C	37	6.093044	0.97276	.	.	ENSG00000180357	ENST00000326648	.	.	.	5.34	3.32	0.38043	.	0.059257	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.8235	13.6805	0.62481	0.2903:0.7097:0.0:0.0	.	.	.	.	X	347	.	ENSP00000316527:R347X	R	+	1	2	ZNF609	62749663	0.984000	0.35163	0.950000	0.38849	0.991000	0.79684	1.511000	0.35801	0.516000	0.28340	0.655000	0.94253	CGA	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418130.1		+	ENST00000326648.3	Nonsense_Mutation	SNP	15 : 64962610 - 64962610 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	459	75
SLC16A10	117247	broad.mit.edu	37	6	111493992	111493992	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111493992C>A	ENST00000368851.5	+	2	613	c.438C>A	c.(436-438)gtC>gtA	p.V146V	SLC16A10_ENST00000465319.1_3'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	146					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		AAACAGCTGTCGTGGGTGCTG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													264	249	254			NA	NA	6		NA											NA				111493992		2203	4300	6503	SO:0001819	synonymous_variant			AF116652	CCDS5089.1	6q21-q22	2014-01-28	2013-07-18		ENSG00000112394	ENSG00000112394	117247	117247		Solute carriers	17027	protein-coding gene	gene with protein product		607550	solute carrier family 16 (monocarboxylic acid transporters), member 10		NA	11278508, 11827462	Standard		NM_018593	NA	Approved	TAT1, MCT10	uc003pus.3	Q8TF71	OTTHUMG00000015371	ENST00000368851.5:c.438C>A	6.37:g.111493992C>A		NA	B3KWY0|Q6ZMG0|Q8WVI5	37	CCDS5089.1	.	.	.	.	.	.	.	.	.	.	C	8.461	0.855211	0.17106	.	.	ENSG00000112394	ENST00000419619;ENST00000439288	.	.	.	5.65	-6.94	0.01633	.	.	.	.	.	.	.	.	.	.	.	0.41365	D	0.987454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3115	0.49366	0.0:0.1161:0.1904:0.6935	.	.	.	.	X	32	.	.	S	+	2	0	SLC16A10	111600685	0.622000	0.27085	0.022000	0.16811	0.974000	0.67602	-0.354000	0.07681	-1.353000	0.02191	0.491000	0.48974	TCG	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041822.2		+	ENST00000368851.5	Silent	SNP	6 : 111493992 - 111493992 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	907	177
GDPD4	220032	broad.mit.edu	37	11	76969510	76969510	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76969510G>A	ENST00000315938.4	-	10	1035	c.785C>T	c.(784-786)tCt>tTt	p.S262F	GDPD4_ENST00000376217.2_Missense_Mutation_p.S262F	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	262	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CTCGCAGGCAGATTCTGGCTG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	170	172			NA	NA	11		NA											NA				76969510		2200	4292	6492	SO:0001583	missense			AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795	220032	220032			24849	protein-coding gene	gene with protein product					NA		Standard	NM_182833	NM_182833	NA	Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000315938.4:c.785C>T	11.37:g.76969510G>A	ENSP00000320815:p.Ser262Phe	NA	Q7Z5B0	37	CCDS8249.1	.	.	.	.	.	.	.	.	.	.	G	3.288	-0.145636	0.06627	.	.	ENSG00000178795	ENST00000376217;ENST00000315938	T;T	0.12465	2.68;2.68	4.73	-0.91	0.10511	.	0.896444	0.09863	N	0.745907	T	0.07413	0.0187	N	0.19112	0.55	0.09310	N	1	B	0.22983	0.078	B	0.17979	0.02	T	0.36456	-0.9747	10	0.40728	T	0.16	-1.7653	4.4757	0.11739	0.1736:0.0:0.3917:0.4347	.	262	Q6W3E5-2	.	F	262	ENSP00000365390:S262F;ENSP00000320815:S262F	ENSP00000320815:S262F	S	-	2	0	GDPD4	76647158	0.000000	0.05858	0.000000	0.03702	0.263000	0.26337	-0.308000	0.08156	-0.061000	0.13110	0.561000	0.74099	TCT	GDPD4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382076.1		-	ENST00000315938.4	Missense_Mutation	SNP	11 : 76969510 - 76969510 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	873	70
PKHD1	5314	broad.mit.edu	37	6	51491841	51491841	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:51491841G>A	ENST00000371117.3	-	66	12014	c.11739C>T	c.(11737-11739)cgC>cgT	p.R3913R		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3913			R -> H (in dbSNP:rs2661487).		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.R3913R(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTGATTCTCGGCGTTTGGATG	0.438		NA												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)											286	273	277			NA	NA	6		NA											NA				51491841		2203	4300	6503	SO:0001819	synonymous_variant			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927	5314	5314			9016	protein-coding gene	gene with protein product	tigmin, polyductin, fibrocystin	606702	TIG multiple domains 1	TIGM1	NA	9503014	Standard	NM_138694	NM_138694	NA	Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11739C>T	6.37:g.51491841G>A		NA	Q5VUA2|Q5VUA3|Q5VWV1|Q8TCZ9	37	CCDS4935.1																																																																																			PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040893.1		-	ENST00000371117.3	Silent	SNP	6 : 51491841 - 51491841 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	830	141
CLEC4M	10332	broad.mit.edu	37	19	7831659	7831659	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7831659C>T	ENST00000327325.5	+	5	1020	c.902C>T	c.(901-903)gCc>gTc	p.A301V	CLEC4M_ENST00000596707.1_Missense_Mutation_p.A234V|CLEC4M_ENST00000334806.5_Missense_Mutation_p.A250V|CLEC4M_ENST00000597522.1_Missense_Mutation_p.A209V|CLEC4M_ENST00000596363.1_Missense_Mutation_p.A273V|CLEC4M_ENST00000357361.2_Missense_Mutation_p.A301V|CLEC4M_ENST00000248228.4_Missense_Mutation_p.A279V|CLEC4M_ENST00000595496.1_Missense_Mutation_p.A165V|CLEC4M_ENST00000394122.2_Missense_Mutation_p.A289V|CLEC4M_ENST00000359059.5_Missense_Mutation_p.A234V	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	301	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						GAAGTGAGGGCCCAGCTCGTC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	78	81			NA	NA	19		NA											NA				7831659		2203	4300	6503	SO:0001583	missense			AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938	10332	10332		C-type lectin domain containing, CD molecules	13523	protein-coding gene	gene with protein product		605872	CD299 antigen	CD209L, CD299	NA	10072769	Standard	NM_014257	NM_001144904	NA	Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.902C>T	19.37:g.7831659C>T	ENSP00000316228:p.Ala301Val	NA	A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	37	CCDS12187.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130790	0.56828	.	.	ENSG00000104938	ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000359059;ENST00000357361;ENST00000358690	T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72;1.94	2.57	2.57	0.30868	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.60418	0.2267	H	0.96015	3.755	0.09310	N	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.998;0.989;0.999;0.997;0.952;0.999;0.999;0.994	T	0.51212	-0.8734	9	0.87932	D	0	.	8.8251	0.35050	0.0:1.0:0.0:0.0	.	250;234;301;289;278;273;165;209	B4E2Z5;Q9H2X3-5;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-9;Q9H2X3-7;Q9H2X3-4	.;.;CLC4M_HUMAN;.;.;.;.;.	V	301;289;279;250;234;301;245	ENSP00000316228:A301V;ENSP00000377680:A289V;ENSP00000248228:A279V;ENSP00000335228:A250V;ENSP00000351954:A234V;ENSP00000349924:A301V	ENSP00000248228:A279V	A	+	2	0	CLEC4M	7737659	0.001000	0.12720	0.202000	0.23494	0.138000	0.21146	0.626000	0.24492	1.754000	0.51921	0.556000	0.70494	GCC	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461161.1		+	ENST00000327325.5	Missense_Mutation	SNP	19 : 7831659 - 7831659 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	401	95
PLA2G15	23659	broad.mit.edu	37	16	68293398	68293398	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68293398C>T	ENST00000413021.2	+	5	918	c.795C>T	c.(793-795)ggC>ggT	p.G265G	PLA2G15_ENST00000219345.5_Silent_p.G359G|RP11-96D1.7_ENST00000563175.1_RNA|PLA2G15_ENST00000444212.2_Silent_p.G159G|PLA2G15_ENST00000566188.1_3'UTR			Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	359					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						TTGGTGACGGCGATGGTACTG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	74	77			NA	NA	16		NA											NA				68293398		2198	4300	6498	SO:0001819	synonymous_variant			AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066	23659	23659			17163	protein-coding gene	gene with protein product		609362	lysophospholipase 3 (lysosomal phospholipase A2)	LYPLA3	NA	10092508, 16973413	Standard	NM_012320	XM_005255886	NA	Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000413021.2:c.795C>T	16.37:g.68293398C>T		NA	B3KMF3|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	37																																																																																				PLA2G15-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000433095.1		+	ENST00000413021.2	Silent	SNP	16 : 68293398 - 68293398 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	413	72
LRIG2	9860	broad.mit.edu	37	1	113655143	113655143	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113655143G>A	ENST00000361127.5	+	14	2039	c.1841G>A	c.(1840-1842)cGc>cAc	p.R614H	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	NA	Ig-like C2-type 2.					cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CTGACTATTCGCACTGGTGCC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	139	141			NA	NA	1		NA											NA				113655143		2203	4300	6503	SO:0001583	missense			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799	9860	9860		Immunoglobulin superfamily / I-set domain containing	20889	protein-coding gene	gene with protein product		608869			NA		Standard	NM_014813	XM_005271369	NA	Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.1841G>A	1.37:g.113655143G>A	ENSP00000355396:p.Arg614His	NA	Q9NSN2	37	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	g	33	5.254238	0.95336	.	.	ENSG00000198799	ENST00000361127	T	0.68025	-0.3	5.45	5.45	0.79879	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.71143	0.3305	L	0.37630	1.12	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.73388	-0.3998	10	0.59425	D	0.04	.	19.2881	0.94087	0.0:0.0:1.0:0.0	.	614	O94898	LRIG2_HUMAN	H	614	ENSP00000355396:R614H	ENSP00000355396:R614H	R	+	2	0	LRIG2	113456666	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.560000	0.86352	0.591000	0.81541	CGC	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033549.2		+	ENST00000361127.5	Missense_Mutation	SNP	1 : 113655143 - 113655143 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	678	154
DLGAP1	9229	broad.mit.edu	37	18	3581920	3581920	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3581920T>C	ENST00000315677.3	-	8	2513	c.1918A>G	c.(1918-1920)Aag>Gag	p.K640E	DLGAP1_ENST00000400147.2_Missense_Mutation_p.K338E|DLGAP1_ENST00000400149.3_Missense_Mutation_p.K330E|DLGAP1_ENST00000581699.1_Missense_Mutation_p.K346E|DLGAP1_ENST00000584874.1_Missense_Mutation_p.K640E|DLGAP1_ENST00000515196.2_Missense_Mutation_p.K640E|DLGAP1_ENST00000400155.1_Missense_Mutation_p.K346E|DLGAP1_ENST00000581527.1_Missense_Mutation_p.K640E|DLGAP1_ENST00000534970.1_Missense_Mutation_p.K324E|DLGAP1_ENST00000400150.3_Missense_Mutation_p.K356E|DLGAP1_ENST00000539435.1_Missense_Mutation_p.K348E|DLGAP1_ENST00000400145.2_Missense_Mutation_p.K338E	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	640					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TGGTCCTTCTTCCTGTCCTCC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	113	120			NA	NA	18		NA											NA				3581920		2203	4300	6503	SO:0001583	missense			AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579	9229	9229			2905	protein-coding gene	gene with protein product		605445	discs, large (Drosophila) homolog-associated protein 1		NA	9024696, 9286858	Standard		NM_004746	NA	Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.1918A>G	18.37:g.3581920T>C	ENSP00000316377:p.Lys640Glu	NA	B2RMU8|B7WPA1|O14489|P78335	37	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	T	13.67	2.307918	0.40895	.	.	ENSG00000170579	ENST00000315677;ENST00000400147;ENST00000400150;ENST00000400149;ENST00000400155;ENST00000534970;ENST00000539435;ENST00000400145;ENST00000515196	T;T;T;T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33	5.41	5.41	0.78517	.	0.058235	0.64402	D	0.000002	T	0.16514	0.0397	L	0.31926	0.97	0.49483	D	0.999799	P;B;B;P;B;P;B;B	0.43231	0.801;0.166;0.005;0.684;0.242;0.763;0.242;0.203	B;B;B;B;B;B;B;B	0.40825	0.341;0.138;0.026;0.341;0.232;0.23;0.232;0.098	T	0.01626	-1.1309	10	0.46703	T	0.11	-29.3278	15.4516	0.75277	0.0:0.0:0.0:1.0	.	640;324;336;346;348;338;640;338	B7Z9Y4;B7Z2H2;B7Z2J5;A8MWN8;B7Z2I2;O14490-3;O14490;O14490-2	.;.;.;.;.;.;DLGP1_HUMAN;.	E	640;338;356;330;346;324;348;338;640	ENSP00000316377:K640E;ENSP00000383011:K338E;ENSP00000383014:K356E;ENSP00000383013:K330E;ENSP00000383019:K346E;ENSP00000437817:K324E;ENSP00000446312:K348E;ENSP00000383010:K338E;ENSP00000445973:K640E	ENSP00000316377:K640E	K	-	1	0	DLGAP1	3571920	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.900000	0.69853	2.038000	0.60285	0.460000	0.39030	AAG	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254394.4		-	ENST00000315677.3	Missense_Mutation	SNP	18 : 3581920 - 3581920 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	557	12
NOTCH1	4851	broad.mit.edu	37	9	139391890	139391890	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139391890C>T	ENST00000277541.6	-	34	6376	c.6301G>A	c.(6301-6303)Gca>Aca	p.A2101T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2101					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGCTCCTGTGCGATGTCGCGC	0.682		NA	T, Mis, O	TRB@	T-ALL					HNSCC(8;0.001)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		9	9q34.3	4851	Notch homolog 1, translocation-associated (Drosophila) (TAN1)		L	0													38	40	39			NA	NA	9		NA											NA				139391890		2190	4275	6465	SO:0001583	missense			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400	4851	4851		Ankyrin repeat domain containing	7881	protein-coding gene	gene with protein product		190198	Notch (Drosophila) homolog 1 (translocation-associated), Notch homolog 1, translocation-associated (Drosophila)	TAN1	NA	1831692	Standard	NM_017617	NM_017617	NA	Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.6301G>A	9.37:g.139391890C>T	ENSP00000277541:p.Ala2101Thr	NA	Q59ED8|Q5SXM3	37	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323403	0.81580	.	.	ENSG00000148400	ENST00000277541	T	0.74002	-0.8	5.42	5.42	0.78866	Ankyrin repeat-containing domain (3);	0.114264	0.64402	D	0.000015	D	0.87533	0.6201	M	0.90814	3.15	0.80722	D	1	D	0.63046	0.992	P	0.59221	0.854	D	0.89877	0.4027	10	0.87932	D	0	.	18.5525	0.91071	0.0:1.0:0.0:0.0	.	2101	P46531	NOTC1_HUMAN	T	2101	ENSP00000277541:A2101T	ENSP00000277541:A2101T	A	-	1	0	NOTCH1	138511711	1.000000	0.71417	0.585000	0.28666	0.317000	0.28152	5.899000	0.69846	2.703000	0.92315	0.561000	0.74099	GCA	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055087.1		-	ENST00000277541.6	Missense_Mutation	SNP	9 : 139391890 - 139391890 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	393	77
GREB1	9687	broad.mit.edu	37	2	11738934	11738934	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11738934C>T	ENST00000381486.2	+	15	2581	c.2281C>T	c.(2281-2283)Ccg>Tcg	p.P761S	GREB1_ENST00000234142.5_Missense_Mutation_p.P761S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	761						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTTCCAGAACCCGCATACACT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(39;850 945 2785 23371 33093)							NA				0													185	180	182			NA	NA	2		NA											NA				11738934		1928	4130	6058	SO:0001583	missense				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208	9687	9687			24885	protein-coding gene	gene with protein product	gene regulated by estrogen in breast cancer	611736			NA	11103799	Standard	NM_014668	NM_014668	NA	Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.2281C>T	2.37:g.11738934C>T	ENSP00000370896:p.Pro761Ser	NA	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	9.591	1.126189	0.20959	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000432985	T;T;T	0.48522	3.14;3.14;0.81	5.04	5.04	0.67666	.	0.208574	0.42821	D	0.000660	T	0.65883	0.2734	L	0.60845	1.875	0.58432	D	0.999997	P;D	0.89917	0.884;1.0	B;D	0.87578	0.292;0.998	T	0.63804	-0.6554	10	0.36615	T	0.2	-49.1598	18.3867	0.90469	0.0:1.0:0.0:0.0	.	395;761	C9JIG0;Q4ZG55	.;GREB1_HUMAN	S	761;761;395	ENSP00000370896:P761S;ENSP00000234142:P761S;ENSP00000403886:P395S	ENSP00000234142:P761S	P	+	1	0	GREB1	11656385	1.000000	0.71417	0.543000	0.28128	0.044000	0.14063	4.476000	0.60216	2.344000	0.79699	0.563000	0.77884	CCG	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280490.1		+	ENST00000381486.2	Missense_Mutation	SNP	2 : 11738934 - 11738934 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	777	198
GPI	2821	broad.mit.edu	37	19	34887303	34887303	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34887303G>A	ENST00000415930.3	+	13	1363	c.1193G>A	c.(1192-1194)gGc>gAc	p.G398D	GPI_ENST00000586425.1_Missense_Mutation_p.G387D|GPI_ENST00000356487.5_Missense_Mutation_p.G387D	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	387					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					GGGACCAATGGCCAGCATGCT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	65	65			NA	NA	19		NA											NA				34887303		2203	4300	6503	SO:0001583	missense			M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	2821	2821	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	glucose phosphate isomerase		NA	2387591, 8575767	Standard		NM_001184722	NA	Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000415930.3:c.1193G>A	19.37:g.34887303G>A	ENSP00000405573:p.Gly398Asp	NA	Q9BRD3|Q9BSK5|Q9UHE6	37	CCDS54246.1	.	.	.	.	.	.	.	.	.	.	G	35	5.419485	0.96111	.	.	ENSG00000105220	ENST00000415930;ENST00000356487	D;D	0.92858	-3.12;-3.12	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.96084	0.8724	M	0.74647	2.275	0.80722	D	1	D;D;D;D	0.76494	0.994;0.999;0.994;0.999	D;D;D;D	0.83275	0.994;0.995;0.994;0.996	D	0.96163	0.9117	10	0.87932	D	0	-10.4995	19.622	0.95660	0.0:0.0:1.0:0.0	.	359;398;360;387	B4DE36;B4DG39;B4DVJ0;P06744	.;.;.;G6PI_HUMAN	D	398;387	ENSP00000405573:G398D;ENSP00000348877:G387D	ENSP00000348877:G387D	G	+	2	0	GPI	39579143	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.792000	0.99085	2.647000	0.89833	0.555000	0.69702	GGC	GPI-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451687.3		+	ENST00000415930.3	Missense_Mutation	SNP	19 : 34887303 - 34887303 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	384	72
CACNA1S	779	broad.mit.edu	37	1	201035357	201035357	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201035357C>A	ENST00000362061.3	-	21	2971	c.2745G>T	c.(2743-2745)aaG>aaT	p.K915N	CACNA1S_ENST00000367338.3_Splice_Site_p.K915N	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	915					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCTCTCTCACCTTCAACCCCT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	68	67			NA	NA	1		NA											NA				201035357		2203	4300	6503	SO:0001630	splice_region_variant			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248	779	779		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3	NA	7916735, 16382099	Standard	NM_000069	NM_000069	NA	Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.2745+1G>T	1.37:g.201035357C>A		NA	A4IF51|B1ALM2|Q12896|Q13934	37	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985117	0.74474	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98732	-5.1;-5.1	3.91	3.91	0.45181	Ion transport (1);	0.102561	0.64402	D	0.000004	D	0.99339	0.9768	H	0.97564	4.03	0.54753	D	0.999986	P	0.44877	0.845	P	0.56216	0.794	D	0.98563	1.0642	9	.	.	.	.	16.249	0.82472	0.0:1.0:0.0:0.0	.	915	Q13698	CAC1S_HUMAN	N	915	ENSP00000355192:K915N;ENSP00000356307:K915N	.	K	-	3	2	CACNA1S	199301980	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.979000	0.70508	1.884000	0.54569	0.455000	0.32223	AAG	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087049.1	Missense_Mutation	-	ENST00000362061.3	Splice_Site	SNP	1 : 201035357 - 201035357 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	520	85
SPATA18	132671	broad.mit.edu	37	4	52945959	52945959	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52945959T>C	ENST00000419395.2	+	8	1422	c.1133T>C	c.(1132-1134)gTc>gCc	p.V378A	SPATA18_ENST00000295213.4_Missense_Mutation_p.V410A			Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	410					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TTCCCTCCTGTCGTTGACTTT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													292	273	279			NA	NA	4		NA											NA				52945959		2203	4300	6503	SO:0001583	missense			BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071	132671	132671			29579	protein-coding gene	gene with protein product		612814	spermatogenesis associated 18 homolog (rat)		NA	21300779	Standard	NM_145263	XR_245253	NA	Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000419395.2:c.1133T>C	4.37:g.52945959T>C	ENSP00000415309:p.Val378Ala	NA	B4E2R0|E5RLK1|Q8IY48|Q8N7D7	37		.	.	.	.	.	.	.	.	.	.	T	12.63	1.995522	0.35226	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.27720	1.65;4.33	5.55	4.36	0.52297	.	0.153319	0.56097	D	0.000021	T	0.15565	0.0375	N	0.08118	0	0.22827	N	0.998686	B;B;B	0.28258	0.01;0.017;0.205	B;B;B	0.21708	0.009;0.009;0.036	T	0.15378	-1.0439	10	0.56958	D	0.05	-12.8994	9.9848	0.41835	0.8421:0.0:0.0:0.1579	.	378;410;410	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	A	410;378	ENSP00000295213:V410A;ENSP00000415309:V378A	ENSP00000295213:V410A	V	+	2	0	SPATA18	52640716	1.000000	0.71417	1.000000	0.80357	0.396000	0.30629	5.017000	0.64047	1.108000	0.41662	-0.339000	0.08088	GTC	SPATA18-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000361442.1		+	ENST00000419395.2	Missense_Mutation	SNP	4 : 52945959 - 52945959 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1317	153
NBEAL2	23218	broad.mit.edu	37	3	47041693	47041693	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47041693C>T	ENST00000450053.3	+	27	4283	c.4104C>T	c.(4102-4104)ggC>ggT	p.G1368G	NBEAL2_ENST00000292309.5_Silent_p.G1184G|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1368							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TAGGATCAGGCAACACTGCTG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	104	102			NA	NA	3		NA											NA				47041693		2104	4219	6323	SO:0001819	synonymous_variant			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796	23218	23218		WD repeat domain containing	31928	protein-coding gene	gene with protein product		614169			NA		Standard	XM_291064	NM_015175	NA	Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4104C>T	3.37:g.47041693C>T		NA	O60288|Q6P994|Q6UX91|Q8NAC9	37	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	C	2.402	-0.337409	0.05278	.	.	ENSG00000160796	ENST00000416683	.	.	.	5.48	1.16	0.20824	.	.	.	.	.	T	0.23492	0.0568	.	.	.	0.22401	N	0.999135	.	.	.	.	.	.	T	0.22138	-1.0225	4	.	.	.	.	3.3069	0.07003	0.1209:0.4588:0.262:0.1583	.	.	.	.	V	656	.	.	A	+	2	0	NBEAL2	47016697	0.000000	0.05858	0.058000	0.19502	0.490000	0.33462	-0.017000	0.12590	0.251000	0.21505	0.561000	0.74099	GCA	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344363.3		+	ENST00000450053.3	Silent	SNP	3 : 47041693 - 47041693 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	656	108
CDH10	1008	broad.mit.edu	37	5	24535872	24535872	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:24535872C>T	ENST00000264463.4	-	4	1093	c.586G>A	c.(586-588)Gcc>Acc	p.A196T		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	196	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A196P(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATGACTCTGGCGCTGTTCCCA	0.453		NA								HNSCC(23;0.051)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											136	124	128			NA	NA	5		NA											NA				24535872		2203	4300	6503	SO:0001583	missense			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731	1008	1008		Cadherins / Major cadherins	1749	protein-coding gene	gene with protein product		604555			NA	2059658	Standard	NM_006727	NM_006727	NA	Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.586G>A	5.37:g.24535872C>T	ENSP00000264463:p.Ala196Thr	NA	Q9ULB3	37	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	36	5.687570	0.96784	.	.	ENSG00000040731	ENST00000264463	T	0.01767	4.65	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.11922	0.0290	M	0.76938	2.355	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.00005	-1.2546	10	0.87932	D	0	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	196	Q9Y6N8	CAD10_HUMAN	T	196	ENSP00000264463:A196T	ENSP00000264463:A196T	A	-	1	0	CDH10	24571629	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GCC	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207345.2		-	ENST00000264463.4	Missense_Mutation	SNP	5 : 24535872 - 24535872 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	304	43
ZFHX4	79776	broad.mit.edu	37	8	77768068	77768068	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77768068C>T	ENST00000521891.2	+	10	9359	c.8911C>T	c.(8911-8913)Cgc>Tgc	p.R2971C	ZFHX4_ENST00000455469.2_Missense_Mutation_p.R2926C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R2926C|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R2945C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2926						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R2955C(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCTGCCCAAACGCGTAGTCCA	0.433		NA								HNSCC(33;0.089)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	kidney(1)											62	58	60			NA	NA	8		NA											NA				77768068		1944	4141	6085	SO:0001583	missense				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656	79776	79776		Homeoboxes / ZF class	30939	protein-coding gene	gene with protein product		606940	zinc finger homeodomain 4		NA	10873665, 11935336	Standard	NM_024721	NM_024721	NA	Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8911C>T	8.37:g.77768068C>T	ENSP00000430497:p.Arg2971Cys	NA	Q18PS0|Q6ZN20	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	16.43	3.122163	0.56613	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	D;D;D;D	0.96774	-4.12;-4.12;-4.12;-4.12	5.19	5.19	0.71726	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.43416	U	0.000569	D	0.98611	0.9535	M	0.92738	3.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.996	D	0.99478	1.0947	10	0.87932	D	0	.	18.8924	0.92410	0.0:1.0:0.0:0.0	.	2926;2926;2971	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	C	2971;2955;2926;2926;2945	ENSP00000430497:R2971C;ENSP00000399605:R2926C;ENSP00000050961:R2926C;ENSP00000430848:R2945C	ENSP00000050961:R2926C	R	+	1	0	ZFHX4	77930623	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	5.780000	0.68956	2.696000	0.92011	0.655000	0.94253	CGC	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379197.2		+	ENST00000521891.2	Missense_Mutation	SNP	8 : 77768068 - 77768068 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	209	26
ATXN2	6311	broad.mit.edu	37	12	111895132	111895132	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111895132C>T	ENST00000542287.2	-	22	2769	c.2607G>A	c.(2605-2607)gcG>gcA	p.A869A	ATXN2_ENST00000608853.1_Silent_p.A974A|ATXN2_ENST00000389153.4_Silent_p.A871A|ATXN2_ENST00000377617.3_Silent_p.A1134A|ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000535949.1_Silent_p.A827A			Q99700	ATX2_HUMAN	ataxin 2	1134					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CGTTAGGGTGCGCATACTGCT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													227	186	200			NA	NA	12		NA											NA				111895132		2203	4300	6503	SO:0001819	synonymous_variant			U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842	6311	6311		Ataxins	10555	protein-coding gene	gene with protein product	trinucleotide repeat containing 13	601517	spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)	SCA2, TNRC13	NA	8358438, 9225980	Standard	NM_002973	NM_002973	NA	Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000542287.2:c.2607G>A	12.37:g.111895132C>T		NA	A6NLD4|Q6ZQZ7|Q99493	37		.	.	.	.	.	.	.	.	.	.	C	14.97	2.695631	0.48202	.	.	ENSG00000204842	ENST00000550889	.	.	.	5.96	-7.82	0.01205	.	.	.	.	.	T	0.52256	0.1723	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62220	-0.6900	5	0.87932	D	0	-8.4051	4.1823	0.10381	0.1525:0.1542:0.1251:0.5681	.	.	.	.	H	19	.	ENSP00000449162:R19H	R	-	2	0	ATXN2	110379515	0.216000	0.23585	0.631000	0.29282	0.988000	0.76386	-0.582000	0.05814	-1.443000	0.01953	-0.142000	0.14014	CGC	ATXN2-011	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000404980.1		-	ENST00000542287.2	Silent	SNP	12 : 111895132 - 111895132 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	38
SOX6	55553	broad.mit.edu	37	11	16007925	16007925	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16007925A>G	ENST00000352083.6	-	15	2085	c.2008T>C	c.(2008-2010)Tat>Cat	p.Y670H	SOX6_ENST00000528429.1_Missense_Mutation_p.Y670H|SOX6_ENST00000316399.6_Missense_Mutation_p.Y650H|SOX6_ENST00000396356.3_Missense_Mutation_p.Y650H|SOX6_ENST00000527619.1_Missense_Mutation_p.Y646H|SOX6_ENST00000528252.1_Missense_Mutation_p.Y643H			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	670					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TCTTCATAATAAGGTTGCTTC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	149	150			NA	NA	11		NA											NA				16007925		2200	4294	6494	SO:0001583	missense			AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05					55553	55553		SRY (sex determining region Y)-boxes	16421	protein-coding gene	gene with protein product		607257			NA	11255018	Standard	NM_033326	NM_033326	NA	Approved		uc001mme.3	P35712		ENST00000352083.6:c.2008T>C	11.37:g.16007925A>G	ENSP00000339876:p.Tyr670His	NA	Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	37		.	.	.	.	.	.	.	.	.	.	A	21.8	4.203537	0.79127	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429	D;D;D;D;D;D	0.99382	-5.8;-5.8;-5.8;-5.8;-5.8;-5.8	5.38	5.38	0.77491	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.116551	0.64402	D	0.000011	D	0.99573	0.9846	H	0.94886	3.595	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.83275	0.975;0.996;0.994	D	0.97910	1.0308	10	0.87932	D	0	.	15.3873	0.74711	1.0:0.0:0.0:0.0	.	650;670;646	P35712-3;P35712;P35712-2	.;SOX6_HUMAN;.	H	650;670;650;643;646;670	ENSP00000324948:Y650H;ENSP00000339876:Y670H;ENSP00000379644:Y650H;ENSP00000432134:Y643H;ENSP00000434455:Y646H;ENSP00000433233:Y670H	ENSP00000324948:Y650H	Y	-	1	0	SOX6	15964501	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	9.339000	0.96797	2.047000	0.60756	0.533000	0.62120	TAT	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000386811.1		-	ENST00000352083.6	Missense_Mutation	SNP	11 : 16007925 - 16007925 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	649	117
LCA5	167691	broad.mit.edu	37	6	80197365	80197365	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:80197365G>A	ENST00000392959.1	-	9	2061	c.1450C>T	c.(1450-1452)Cta>Tta	p.L484L	LCA5_ENST00000369846.4_Silent_p.L484L	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	484					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		GGGTATTTTAGATTTCGAGAA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	141	141			NA	NA	6		NA											NA				80197365		2203	4299	6502	SO:0001819	synonymous_variant				CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338	167691	167691			31923	protein-coding gene	gene with protein product	lebercilin	611408	chromosome 6 open reading frame 152	C6orf152	NA	10631161, 17546029	Standard	NM_181714	NM_181714	NA	Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.1450C>T	6.37:g.80197365G>A		NA	E1P542|Q9BWX7	37	CCDS4990.1																																																																																			LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000259269.1		-	ENST00000392959.1	Silent	SNP	6 : 80197365 - 80197365 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	878	38
GNA13	10672	broad.mit.edu	37	17	63010504	63010504	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:63010504C>T	ENST00000541118.1	-	4	903	c.720G>A	c.(718-720)cgG>cgA	p.R240R	GNA13_ENST00000439174.2_Silent_p.R335R			Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	335					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						GTTGCTGGTCCCGGCGTTTGT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	108	116			NA	NA	17		NA											NA				63010504		2203	4300	6503	SO:0001819	synonymous_variant			L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063	10672	10672			4381	protein-coding gene	gene with protein product		604406			NA	7791744	Standard	NM_006572	NM_006572	NA	Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000541118.1:c.720G>A	17.37:g.63010504C>T		NA	B2R977|Q8TD70	37																																																																																				GNA13-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000445721.1		-	ENST00000541118.1	Silent	SNP	17 : 63010504 - 63010504 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	375	44
CPSF6	11052	broad.mit.edu	37	12	69653851	69653851	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69653851T>C	ENST00000435070.2	+	8	1453	c.1343T>C	c.(1342-1344)cTg>cCg	p.L448P	CPSF6_ENST00000266679.8_Missense_Mutation_p.L485P|CPSF6_ENST00000456847.3_Missense_Mutation_p.L375P|CPSF6_ENST00000551516.1_Intron	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	448					mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			ATTGAGACACTGGTAACTGCA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	135	135			NA	NA	12		NA											NA				69653851		2203	4300	6503	SO:0001583	missense			X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605	11052	11052		RNA binding motif (RRM) containing	13871	protein-coding gene	gene with protein product	cleavage factor Im complex 68 kDa subunit	604979	cleavage and polyadenylation specific factor 6, 68kD subunit		NA	9659921, 17267687	Standard	NM_007007	NM_007007	NA	Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.1343T>C	12.37:g.69653851T>C	ENSP00000391774:p.Leu448Pro	NA	A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	37	CCDS8988.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.482956	0.84747	.	.	ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679	D;D;D	0.88354	-2.37;-2.37;-2.37	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.93569	0.7947	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	1.0;1.0;0.993	D	0.93227	0.6614	9	.	.	.	-2.7417	16.3141	0.82909	0.0:0.0:0.0:1.0	.	196;485;448	B4DSU9;Q16630-2;Q16630	.;.;CPSF6_HUMAN	P	448;375;485	ENSP00000391774:L448P;ENSP00000391437:L375P;ENSP00000266679:L485P	.	L	+	2	0	CPSF6	67940118	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.317000	0.78254	0.460000	0.39030	CTG	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403609.1		+	ENST00000435070.2	Missense_Mutation	SNP	12 : 69653851 - 69653851 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	491	76
ENPEP	2028	broad.mit.edu	37	4	111397683	111397683	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:111397683G>A	ENST00000265162.5	+	1	455	c.113G>A	c.(112-114)gGc>gAc	p.G38D		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	38					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CTTGCCGTGGGCTTGACCAGA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													197	182	187			NA	NA	4		NA											NA				111397683		2203	4300	6503	SO:0001583	missense			L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	2028	2028	3.4.11.7	CD molecules	3355	protein-coding gene	gene with protein product		138297			NA	9268642	Standard		NM_001977	NA	Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.113G>A	4.37:g.111397683G>A	ENSP00000265162:p.Gly38Asp	NA	Q504U2	37	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	33	5.246617	0.95305	.	.	ENSG00000138792	ENST00000265162	T	0.01304	5.03	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.08268	0.0206	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.20739	-1.0266	10	0.36615	T	0.2	.	19.5465	0.95299	0.0:0.0:1.0:0.0	.	38	Q07075	AMPE_HUMAN	D	38	ENSP00000265162:G38D	ENSP00000265162:G38D	G	+	2	0	ENPEP	111617132	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	9.394000	0.97261	2.625000	0.88918	0.313000	0.20887	GGC	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255747.2		+	ENST00000265162.5	Missense_Mutation	SNP	4 : 111397683 - 111397683 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	996	187
CDKL3	51265	broad.mit.edu	37	5	133644398	133644398	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133644398G>A	ENST00000521118.1	-	8	1016	c.902C>T	c.(901-903)gCt>gTt	p.A301V	CDKL3_ENST00000435240.2_Missense_Mutation_p.A6V|CDKL3_ENST00000523832.1_Missense_Mutation_p.A301V|CDKL3_ENST00000435211.1_Missense_Mutation_p.A301V|CDKL3_ENST00000521755.1_Intron|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000523054.1_Missense_Mutation_p.A112V|CDKL3_ENST00000265334.4_Missense_Mutation_p.A301V|CDKL3_ENST00000536186.1_Missense_Mutation_p.A6V|CDKL3_ENST00000609383.1_Missense_Mutation_p.A6V|CDKL3_ENST00000609654.1_Missense_Mutation_p.A112V			Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	301						cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGTAATTTAGCTTTCAGTTC	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	37	37			NA	NA	5		NA											NA				133644398		1824	4076	5900	SO:0001583	missense			AF130372	CCDS47264.1, CCDS47265.1, CCDS75303.1	5q31.1	2014-09-09			ENSG00000006837	ENSG00000006837	51265	51265	2.7.11.22	Cyclin-dependent kinases	15483	protein-coding gene	gene with protein product	serine-threonine protein kinase NKIAMRE	608459			NA	10463609	Standard	NM_001113575	NM_016508	NA	Approved	NKIAMRE	uc003kzf.4	Q8IVW4	OTTHUMG00000186341	ENST00000521118.1:c.902C>T	5.37:g.133644398G>A	ENSP00000428689:p.Ala301Val	NA	D3DQA0|D3DQA1|Q9P114	37		.	.	.	.	.	.	.	.	.	.	G	16.01	3.002233	0.54254	.	.	ENSG00000006837	ENST00000536186;ENST00000435240;ENST00000265334;ENST00000523054;ENST00000521118;ENST00000523832;ENST00000435211	T;T;T;T;T;T;T	0.74315	0.24;0.19;-0.78;-0.61;-0.83;-0.79;-0.79	5.66	5.66	0.87406	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000006	T	0.78329	0.4266	L	0.32530	0.975	0.29057	N	0.884161	D;D;D;D;P	0.89917	0.986;1.0;0.999;0.978;0.877	P;D;D;P;B	0.72338	0.797;0.977;0.974;0.651;0.395	T	0.72795	-0.4185	10	0.38643	T	0.18	-23.5142	12.9356	0.58311	0.0:0.1628:0.8372:0.0	.	112;6;6;112;301	B4DX41;B4DRK6;B4DGS2;B7Z2C5;Q8IVW4	.;.;.;.;CDKL3_HUMAN	V	6;6;301;112;301;301;301	ENSP00000441545:A6V;ENSP00000399807:A6V;ENSP00000265334:A301V;ENSP00000428500:A112V;ENSP00000428689:A301V;ENSP00000430496:A301V;ENSP00000395559:A301V	ENSP00000265334:A301V	A	-	2	0	CDKL3	133672297	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	3.454000	0.52986	2.676000	0.91093	0.555000	0.69702	GCT	CDKL3-006	KNOWN	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000377700.1		-	ENST00000521118.1	Missense_Mutation	SNP	5 : 133644398 - 133644398 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	126	12
EFCAB5	374786	broad.mit.edu	37	17	28380972	28380972	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28380972T>C	ENST00000394835.3	+	10	2192	c.2000T>C	c.(1999-2001)aTa>aCa	p.I667T	EFCAB5_ENST00000536908.2_Missense_Mutation_p.I611T|EFCAB5_ENST00000320856.5_Missense_Mutation_p.I667T|EFCAB5_ENST00000541045.1_Missense_Mutation_p.I324T|EFCAB5_ENST00000378738.3_Missense_Mutation_p.I667T|EFCAB5_ENST00000394832.2_Missense_Mutation_p.I667T	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	667							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CAAGAAGACATAGGCTCAACT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	80	83			NA	NA	17		NA											NA				28380972		1858	4108	5966	SO:0001583	missense			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927	374786	374786		EF-hand domain containing	24801	protein-coding gene	gene with protein product					NA		Standard	NM_198529	NM_198529	NA	Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.2000T>C	17.37:g.28380972T>C	ENSP00000378312:p.Ile667Thr	NA	B2RPN0|Q0VD68|Q6ZRM6|Q8NDG9	37	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	T	4.950	0.176404	0.09443	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	T;T;T;T;T;T;T	0.42513	1.97;0.97;2.97;2.97;2.29;1.97;2.97	5.14	-5.04	0.02964	.	2.425250	0.01699	N	0.027091	T	0.13586	0.0329	N	0.01705	-0.755	0.09310	N	1	B;B;B;B;B;B	0.17268	0.012;0.021;0.001;0.002;0.007;0.001	B;B;B;B;B;B	0.10450	0.004;0.003;0.001;0.002;0.005;0.001	T	0.10894	-1.0610	10	0.11794	T	0.64	3.3471	2.0208	0.03509	0.1158:0.2281:0.3554:0.3007	.	611;611;667;667;667;667	B4DS75;F5GYL2;A8MSY9;B5MEA3;E7EVS9;A4FU69	.;.;.;.;.;EFCB5_HUMAN	T	611;410;324;667;667;667;667;611;473	ENSP00000440619:I611T;ENSP00000445575:I324T;ENSP00000378312:I667T;ENSP00000322003:I667T;ENSP00000378309:I667T;ENSP00000368012:I667T;ENSP00000417009:I473T	ENSP00000322003:I667T	I	+	2	0	EFCAB5	25405098	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-2.336000	0.01105	-0.899000	0.03901	0.524000	0.50904	ATA	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256120.4		+	ENST00000394835.3	Missense_Mutation	SNP	17 : 28380972 - 28380972 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	202	17
SCN5A	6331	broad.mit.edu	37	3	38616790	38616790	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38616790G>T	ENST00000455624.2	-	19	3685	c.3661C>A	c.(3661-3663)Ctg>Atg	p.L1221M	SCN5A_ENST00000450102.2_Missense_Mutation_p.L1168M|SCN5A_ENST00000451551.2_Missense_Mutation_p.L1168M|SCN5A_ENST00000413689.1_Missense_Mutation_p.L1222M|SCN5A_ENST00000425664.1_Missense_Mutation_p.L1222M|SCN5A_ENST00000423572.2_Missense_Mutation_p.L1221M|SCN5A_ENST00000414099.2_Missense_Mutation_p.L1222M|SCN5A_ENST00000443581.1_Missense_Mutation_p.L1221M|SCN5A_ENST00000333535.4_Missense_Mutation_p.L1222M|SCN5A_ENST00000449557.2_Missense_Mutation_p.L1168M			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1222					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GAGGGTACCAGCGCTCCACTG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	39	38			NA	NA	3		NA											NA				38616790		2203	4300	6503	SO:0001583	missense			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873	6331	6331		Sodium channels, Voltage-gated ion channels / Sodium channels	10593	protein-coding gene	gene with protein product	long QT syndrome 3	600163	sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	CMD1E	NA	7842012, 15466643, 16382098	Standard	NM_198056	NM_198056	NA	Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000455624.2:c.3661C>A	3.37:g.38616790G>T	ENSP00000399524:p.Leu1221Met	NA	A5H1P8|A6N922|A6N923|B2RTU0|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	37	CCDS54570.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900162	0.72754	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.97688	-4.49;-4.49;-4.49;-4.49;-4.49;-4.49;-4.49;-4.49;-4.49;-4.49	4.21	4.21	0.49690	.	0.165085	0.41938	D	0.000789	D	0.98704	0.9565	M	0.86268	2.805	0.47476	D	0.999433	D;D;P;P;D;D;D	0.76494	0.991;0.994;0.942;0.699;0.999;0.998;0.983	D;P;P;B;D;D;P	0.77557	0.972;0.832;0.805;0.425;0.974;0.99;0.865	D	0.99647	1.0990	10	0.87932	D	0	.	16.7305	0.85433	0.0:0.0:1.0:0.0	.	1168;1221;1222;1222;1222;1221;1222	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	M	1222;1221;1222;1168;1221;1222;1222;1221;1168;1168	ENSP00000398962:L1222M;ENSP00000398266:L1221M;ENSP00000410257:L1222M;ENSP00000388797:L1168M;ENSP00000397915:L1221M;ENSP00000416634:L1222M;ENSP00000328968:L1222M;ENSP00000399524:L1221M;ENSP00000403355:L1168M;ENSP00000413996:L1168M	ENSP00000328968:L1222M	L	-	1	2	SCN5A	38591794	1.000000	0.71417	0.938000	0.37757	0.987000	0.75469	6.586000	0.74067	2.356000	0.79943	0.655000	0.94253	CTG	SCN5A-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343215.2		-	ENST00000455624.2	Missense_Mutation	SNP	3 : 38616790 - 38616790 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	95	16
SLC34A3	142680	broad.mit.edu	37	9	140130446	140130446	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140130446C>A	ENST00000538474.1	+	13	1602	c.1378C>A	c.(1378-1380)Ctg>Atg	p.L460M	SLC34A3_ENST00000361134.2_Missense_Mutation_p.L460M	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	460					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CGGCATCCTGCTGTGGTACCT	0.697		NA									OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	57	58			NA	NA	9		NA											NA				140130446		2202	4294	6496	SO:0001583	missense			AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569	142680	142680		Solute carriers	20305	protein-coding gene	gene with protein product		609826	solute carrier family 34 (sodium phosphate), member 3		NA	11880379, 16358215, 16358214	Standard	NM_080877	NM_080877	NA	Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.1378C>A	9.37:g.140130446C>A	ENSP00000442397:p.Leu460Met	1654	A2BFA1	37	CCDS7038.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.725024	0.48833	.	.	ENSG00000198569	ENST00000538474;ENST00000361134	D;D	0.88277	-2.36;-2.36	4.11	1.11	0.20524	.	0.148979	0.29321	N	0.012482	D	0.90417	0.7000	M	0.74258	2.255	0.28738	N	0.902132	D	0.56287	0.975	P	0.57720	0.826	D	0.84038	0.0363	10	0.87932	D	0	-4.6612	4.7646	0.13127	0.1719:0.6313:0.0:0.1968	.	460	Q8N130	NPT2C_HUMAN	M	460	ENSP00000442397:L460M;ENSP00000355353:L460M	ENSP00000355353:L460M	L	+	1	2	SLC34A3	139250267	0.990000	0.36364	0.886000	0.34754	0.730000	0.41778	0.730000	0.26043	0.124000	0.18369	0.407000	0.27541	CTG	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254712.1		+	ENST00000538474.1	Missense_Mutation	SNP	9 : 140130446 - 140130446 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	646	105
TNRC6C	57690	broad.mit.edu	37	17	76060855	76060855	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76060855T>C	ENST00000588847.1	+	6	3166	c.2439T>C	c.(2437-2439)tcT>tcC	p.S813S	TNRC6C_ENST00000335749.4_Silent_p.S813S|TNRC6C_ENST00000588061.1_Silent_p.S816S|TNRC6C_ENST00000301624.4_Silent_p.S816S|TNRC6C_ENST00000541771.1_Silent_p.S816S|TNRC6C_ENST00000544502.1_Silent_p.S813S			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	816	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CTGAAAACTCTTGGGGAGAAC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	70	70			NA	NA	17		NA											NA				76060855		1875	4127	6002	SO:0001819	synonymous_variant			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687	57690	57690		Trinucleotide (CAG) repeat containing	29318	protein-coding gene	gene with protein product		610741			NA		Standard	NM_018996	NM_018996	NA	Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588847.1:c.2439T>C	17.37:g.76060855T>C		NA	Q86UE5|Q8N3D8|Q96MU9	37	CCDS45799.1																																																																																			TNRC6C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255891.4		+	ENST00000588847.1	Silent	SNP	17 : 76060855 - 76060855 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	377	72
TRIM47	91107	broad.mit.edu	37	17	73871062	73871062	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73871062G>A	ENST00000254816.2	-	6	1445	c.1419C>T	c.(1417-1419)ggC>ggT	p.G473G	TRIM47_ENST00000587339.1_Silent_p.G235G	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	473	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGCACCCTCGCCCAGCACCT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	60	61			NA	NA	17		NA											NA				73871062		2203	4300	6503	SO:0001819	synonymous_variant			AY026763	CCDS32737.1	17q25	2013-01-09	2011-01-25			ENSG00000132481	91107	91107		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	19020	protein-coding gene	gene with protein product		611041	tripartite motif-containing 47		NA		Standard		NM_033452	NA	Approved	GOA, RNF100	uc002jpw.3	Q96LD4		ENST00000254816.2:c.1419C>T	17.37:g.73871062G>A		NA	Q96GU5|Q9BRN7	37	CCDS32737.1																																																																																			TRIM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448934.1		-	ENST00000254816.2	Silent	SNP	17 : 73871062 - 73871062 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	325	59
TRIM3	10612	broad.mit.edu	37	11	6477406	6477406	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6477406C>T	ENST00000525074.1	-	7	1824		c.e7-1		TRIM3_ENST00000359518.3_Splice_Site|TRIM3_ENST00000529058.1_Splice_Site|TRIM3_ENST00000345851.3_Splice_Site|TRIM3_ENST00000536344.1_Splice_Site|TRIM3_ENST00000537602.1_Splice_Site	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	NA					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACGACTGCCTGTGGGAAGG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(6;5 510 1540 25169 29084)							NA				0													94	86	88			NA	NA	11		NA											NA				6477406		2201	4296	6497	SO:0001630	splice_region_variant			AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171	10612	10612		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	10064	protein-coding gene	gene with protein product	ring finger protein 22, brain expressed ring finger, tripartite motif protein TRIM3	605493	tripartite motif-containing 3	RNF22	NA	10391919	Standard	NM_006458	NM_006458	NA	Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.1430-1G>A	11.37:g.6477406C>T		NA	Q4V9L4|Q9C038|Q9C039	37	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244253	0.79912	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0997	0.89501	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRIM3	6433982	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	7.463000	0.80869	2.610000	0.88304	0.563000	0.77884	.	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384224.2	Intron	-	ENST00000525074.1	Splice_Site	SNP	11 : 6477406 - 6477406 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	397	66
UBXN2B	137886	broad.mit.edu	37	8	59360082	59360082	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:59360082A>G	ENST00000399598.2	+	8	1090	c.968A>G	c.(967-969)aAc>aGc	p.N323S		NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	323	UBX.					cytosol|endoplasmic reticulum|Golgi apparatus|nucleus				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						GATATTCTTAACACTGTGTTA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	63	66			NA	NA	8		NA											NA				59360082		1861	4108	5969	SO:0001583	missense			AK054658	CCDS43741.1	8q12.1	2008-08-08			ENSG00000215114	ENSG00000215114	137886	137886		UBX domain containing	27035	protein-coding gene	gene with protein product		610686			NA	8619474, 9110174	Standard	NM_001077619	NM_001077619	NA	Approved	p37	uc003xtl.3	Q14CS0	OTTHUMG00000164300	ENST00000399598.2:c.968A>G	8.37:g.59360082A>G	ENSP00000382507:p.Asn323Ser	NA	B3KWZ3	37	CCDS43741.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.812865	0.90707	.	.	ENSG00000215114	ENST00000399598	T	0.48522	0.81	6.08	6.08	0.98989	UBX (3);	0.000000	0.48767	U	0.000180	T	0.68458	0.3003	M	0.76574	2.34	0.58432	D	0.999997	D	0.71674	0.998	D	0.73708	0.981	T	0.70757	-0.4785	10	0.56958	D	0.05	-24.3636	15.2149	0.73258	1.0:0.0:0.0:0.0	.	323	Q14CS0	UBX2B_HUMAN	S	323	ENSP00000382507:N323S	ENSP00000382507:N323S	N	+	2	0	UBXN2B	59522636	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.304000	0.89958	2.333000	0.79357	0.533000	0.62120	AAC	UBXN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378184.1		+	ENST00000399598.2	Missense_Mutation	SNP	8 : 59360082 - 59360082 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	56
DUS3L	56931	broad.mit.edu	37	19	5790078	5790078	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5790078G>T	ENST00000309061.7	-	2	463	c.367C>A	c.(367-369)Ctg>Atg	p.L123M	DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	123					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GAGGGACACAGCCTGTTCTTG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	84	84			NA	NA	19		NA											NA				5790078		2203	4300	6503	SO:0001583	missense				CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994	56931	56931			26920	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_020175	NM_020175	NA	Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.367C>A	19.37:g.5790078G>T	ENSP00000311977:p.Leu123Met	NA	Q96HM5|Q9BSU4|Q9H877|Q9NPR1	37	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331403	0.60853	.	.	ENSG00000141994	ENST00000309061	T	0.30981	1.51	4.74	0.0836	0.14434	Zinc finger, CCCH-type (1);	0.000000	0.64402	D	0.000003	T	0.51702	0.1690	M	0.84219	2.685	0.45415	D	0.998391	D	0.76494	0.999	D	0.72625	0.978	T	0.53753	-0.8394	10	0.72032	D	0.01	-14.9503	9.1683	0.37065	0.341:0.0:0.659:0.0	.	123	Q96G46	DUS3L_HUMAN	M	123	ENSP00000311977:L123M	ENSP00000311977:L123M	L	-	1	2	DUS3L	5741078	1.000000	0.71417	0.073000	0.20177	0.876000	0.50452	4.223000	0.58587	0.172000	0.19760	-0.794000	0.03295	CTG	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451870.2		-	ENST00000309061.7	Missense_Mutation	SNP	19 : 5790078 - 5790078 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	303	23
KIAA0922	23240	broad.mit.edu	37	4	154553974	154553974	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154553974G>A	ENST00000409663.3	+	32	4361	c.4309G>A	c.(4309-4311)Gcc>Acc	p.A1437T	KIAA0922_ENST00000409959.3_Missense_Mutation_p.A1438T|KIAA0922_ENST00000440693.1_Missense_Mutation_p.A1354T	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1437						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TCAGGAGTCGGCCCCGGTTCA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	103	113			NA	NA	4		NA											NA				154553974		2203	4300	6503	SO:0001583	missense			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210	23240	23240			29146	protein-coding gene	gene with protein product					NA	10231032, 11230166	Standard	NM_015196	NM_015196	NA	Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.4309G>A	4.37:g.154553974G>A	ENSP00000386574:p.Ala1437Thr	NA	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	37	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	G	7.816	0.716702	0.15306	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.18174	2.5;2.23;2.5;2.23	5.09	1.23	0.21249	.	0.662406	0.15768	N	0.245617	T	0.07728	0.0194	N	0.19112	0.55	0.09310	N	1	P;B;B	0.35011	0.48;0.035;0.021	B;B;B	0.27715	0.082;0.009;0.004	T	0.32455	-0.9906	10	0.02654	T	1	-0.261	11.6361	0.51204	0.0919:0.4304:0.4776:0.0	.	1354;1438;1437	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	T	1437;1354;1438;1215	ENSP00000386574:A1437T;ENSP00000409663:A1354T;ENSP00000386787:A1438T;ENSP00000240487:A1215T	ENSP00000240487:A1215T	A	+	1	0	KIAA0922	154773424	0.004000	0.15560	0.000000	0.03702	0.006000	0.05464	0.780000	0.26760	-0.099000	0.12263	0.563000	0.77884	GCC	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330370.1		+	ENST00000409663.3	Missense_Mutation	SNP	4 : 154553974 - 154553974 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	419	82
ERICH1	157697	broad.mit.edu	37	8	623643	623643	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:623643C>T	ENST00000262109.7	-	4	786	c.709G>A	c.(709-711)Gct>Act	p.A237T	ERICH1_ENST00000522706.1_Missense_Mutation_p.A143T	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	237	Glu-rich.									endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		TCCTCGCTAGCGTCCGCACCA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	118	121			NA	NA	8		NA											NA				623643		2203	4300	6503	SO:0001583	missense				CCDS5955.1	8p23.3	2005-09-01			ENSG00000104714	ENSG00000104714	157697	157697			27234	protein-coding gene	gene with protein product					NA		Standard	NM_207332	NM_207332	NA	Approved		uc003wph.3	Q86X53	OTTHUMG00000129163	ENST00000262109.7:c.709G>A	8.37:g.623643C>T	ENSP00000262109:p.Ala237Thr	NA	A8K2J9|Q9P063	37	CCDS5955.1	.	.	.	.	.	.	.	.	.	.	C	0.371	-0.934118	0.02340	.	.	ENSG00000104714	ENST00000543819;ENST00000522706;ENST00000262109	T;T	0.35973	1.28;1.4	1.47	-2.93	0.05598	.	.	.	.	.	T	0.13543	0.0328	N	0.12182	0.205	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.25537	-1.0129	9	0.13470	T	0.59	.	0.6768	0.00868	0.1732:0.2483:0.172:0.4065	.	237;237;143	B4DMI5;Q86X53;E5RHA3	.;ERIC1_HUMAN;.	T	237;143;237	ENSP00000428635:A143T;ENSP00000262109:A237T	ENSP00000262109:A237T	A	-	1	0	ERICH1	613643	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.912000	0.01582	-1.447000	0.01943	-3.692000	0.00024	GCT	ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251228.3		-	ENST00000262109.7	Missense_Mutation	SNP	8 : 623643 - 623643 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	939	185
PHF20L1	51105	broad.mit.edu	37	8	133827072	133827072	+	Nonsense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133827072T>G	ENST00000395386.2	+	10	1420	c.1121T>G	c.(1120-1122)tTa>tGa	p.L374*	PHF20L1_ENST00000395390.2_Nonsense_Mutation_p.L349*|PHF20L1_ENST00000220847.7_5'UTR	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	374							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TCCCCAGAATTAATACAAGTC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	112	113			NA	NA	8		NA											NA				133827072		2203	4299	6502	SO:0001587	stop_gained			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292	51105	51105		Tudor domain containing, Zinc fingers, PHD-type	24280	protein-coding gene	gene with protein product	tudor domain containing 20B				NA	10810093, 24492612	Standard	NM_016018	NM_016018	NA	Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.1121T>G	8.37:g.133827072T>G	ENSP00000378784:p.Leu374*	NA	A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	37	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	T	38	6.924387	0.97940	.	.	ENSG00000129292	ENST00000395383;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000395382;ENST00000395390	.	.	.	5.98	5.98	0.97165	.	0.840981	0.10934	N	0.618005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.9413	15.6508	0.77091	0.0:0.0:0.0:1.0	.	.	.	.	X	378;349;374;374;244;349	.	ENSP00000324519:L374X	L	+	2	0	PHF20L1	133896254	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.505000	0.66981	2.289000	0.77006	0.482000	0.46254	TTA	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000308949.3		+	ENST00000395386.2	Nonsense_Mutation	SNP	8 : 133827072 - 133827072 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	603	101
KCTD8	386617	broad.mit.edu	37	4	44449580	44449580	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:44449580G>A	ENST00000360029.3	-	1	1244	c.961C>T	c.(961-963)Cga>Tga	p.R321*		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	321						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GCGAACTTACGGAAGAAAATG	0.662		NA								HNSCC(17;0.042)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	17	17			NA	NA	4		NA											NA				44449580		2198	4300	6498	SO:0001630	splice_region_variant			AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783	386617	386617			22394	protein-coding gene	gene with protein product			potassium channel tetramerisation domain containing 8		NA		Standard		NM_198353	NA	Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.961+1C>T	4.37:g.44449580G>A		NA	A2RU39	37	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	G	40	8.116172	0.98662	.	.	ENSG00000183783	ENST00000360029	.	.	.	4.27	3.33	0.38152	.	0.146450	0.42682	D	0.000664	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2831	0.37740	0.0:0.0:0.6078:0.3922	.	.	.	.	X	321	.	.	R	-	1	2	KCTD8	44144337	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.944000	0.40263	2.214000	0.71695	0.591000	0.81541	CGA	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216868.1	Nonsense_Mutation	-	ENST00000360029.3	Splice_Site	SNP	4 : 44449580 - 44449580 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	114	21
SIRPA	140885	broad.mit.edu	37	20	1896098	1896098	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1896098C>A	ENST00000358771.4	+	2	585	c.433C>A	c.(433-435)Cgc>Agc	p.R145S	SIRPA_ENST00000356025.3_Missense_Mutation_p.R145S|SIRPA_ENST00000400068.3_Missense_Mutation_p.R145S	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	145					blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GCTGTCTGTGCGCGGTGAGTA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(155;1668 1920 5945 42733 48121)							NA				0													103	91	95			NA	NA	20		NA											NA				1896098		2203	4298	6501	SO:0001583	missense			D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053	140885	140885		Signal-regulatory proteins, CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C1-set domain containing	9662	protein-coding gene	gene with protein product		602461	protein tyrosine phosphatase, non-receptor type substrate 1	PTPNS1	NA	9070220, 9062191, 16339511	Standard	NM_080792	XM_005260669	NA	Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.433C>A	20.37:g.1896098C>A	ENSP00000351621:p.Arg145Ser	NA	A2A2E1|A8K411|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	37	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	C	6.139	0.393833	0.11638	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.02085	4.46;4.46;4.46	5.11	-3.87	0.04218	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.012980	0.07889	N	0.970802	T	0.01189	0.0039	N	0.01705	-0.755	0.09310	N	1	B;B;B	0.23316	0.005;0.083;0.005	B;B;B	0.13407	0.005;0.009;0.005	T	0.48186	-0.9057	10	0.16420	T	0.52	.	17.2156	0.86943	0.2185:0.7815:0.0:0.0	.	125;145;145	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	S	145	ENSP00000382941:R145S;ENSP00000348307:R145S;ENSP00000351621:R145S	ENSP00000348307:R145S	R	+	1	0	SIRPA	1844098	0.027000	0.19231	0.010000	0.14722	0.037000	0.13140	-0.010000	0.12743	-0.921000	0.03794	-0.410000	0.06199	CGC	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077568.2		+	ENST00000358771.4	Missense_Mutation	SNP	20 : 1896098 - 1896098 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	507	40
SLC6A20	54716	broad.mit.edu	37	3	45812884	45812884	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45812884G>T	ENST00000358525.4	-	6	875	c.760C>A	c.(760-762)Ctg>Atg	p.L254M	SLC6A20_ENST00000353278.4_Missense_Mutation_p.L217M|SLC6A20_ENST00000456124.2_Missense_Mutation_p.L254M	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	254					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CCGAAGCCCAGGCCAAGTGAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	121	129			NA	NA	3		NA											NA				45812884		2203	4300	6503	SO:0001583	missense			AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817	54716	54716		Solute carriers	30927	protein-coding gene	gene with protein product		605616			NA	9932288, 11352561	Standard	NM_020208	NM_022405	NA	Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.760C>A	3.37:g.45812884G>T	ENSP00000346298:p.Leu254Met	NA	A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	37	CCDS43077.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610749	0.66558	.	.	ENSG00000163817	ENST00000353278;ENST00000358525;ENST00000456124;ENST00000413781	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.05	3.22	0.36961	.	0.000000	0.64402	D	0.000003	D	0.88366	0.6417	M	0.88570	2.965	0.38052	D	0.935792	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89369	0.3673	10	0.72032	D	0.01	.	10.8715	0.46885	0.158:0.0:0.842:0.0	.	217;254	Q9NP91-2;Q9NP91	.;S6A20_HUMAN	M	217;254;254;207	ENSP00000296133:L217M;ENSP00000346298:L254M;ENSP00000404310:L254M;ENSP00000395506:L207M	ENSP00000296133:L217M	L	-	1	2	SLC6A20	45787888	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.690000	0.54713	0.499000	0.27970	0.467000	0.42956	CTG	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257318.3		-	ENST00000358525.4	Missense_Mutation	SNP	3 : 45812884 - 45812884 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	60
ATXN7L3	56970	broad.mit.edu	37	17	42273431	42273431	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42273431C>T	ENST00000389384.4	-	6	802	c.494G>A	c.(493-495)cGa>cAa	p.R165Q	ATXN7L3_ENST00000593073.1_Intron|ATXN7L3_ENST00000454077.2_Missense_Mutation_p.R172Q	NM_001098833.1	NP_001092303.1	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3	165					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTTGGATCTTCGAGGGGAATT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	88	89			NA	NA	17		NA											NA				42273431		1852	4092	5944	SO:0001583	missense			AK056002	CCDS42345.1, CCDS45697.1	17q21	2010-03-10			ENSG00000087152	ENSG00000087152	56970	56970			25416	protein-coding gene	gene with protein product					NA	15115762	Standard		NM_001098833	NA	Approved	DKFZp761G2113	uc002ifz.3	Q14CW9		ENST00000389384.4:c.494G>A	17.37:g.42273431C>T	ENSP00000374035:p.Arg165Gln	NA	Q8IY68|Q96N40|Q9NPU5	37	CCDS42345.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095123	0.76870	.	.	ENSG00000087152	ENST00000454077;ENST00000389384	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.75391	0.3843	L	0.55990	1.75	0.58432	D	0.999999	D;D	0.71674	0.997;0.998	P;D	0.75484	0.788;0.986	T	0.76932	-0.2776	9	0.54805	T	0.06	.	16.9903	0.86352	0.0:1.0:0.0:0.0	.	165;172	Q14CW9;Q14CW9-2	AT7L3_HUMAN;.	Q	172;165	.	ENSP00000374035:R165Q	R	-	2	0	ATXN7L3	39628957	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.202000	0.77856	2.290000	0.77057	0.556000	0.70494	CGA	ATXN7L3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457725.1		-	ENST00000389384.4	Missense_Mutation	SNP	17 : 42273431 - 42273431 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	454	90
NUP153	9972	broad.mit.edu	37	6	17661976	17661976	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17661976C>A	ENST00000262077.2	-	11	1302	c.1303G>T	c.(1303-1305)Gcc>Tcc	p.A435S	NUP153_ENST00000537253.1_Missense_Mutation_p.A435S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	435					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			AAACCATTGGCTGCAGGCAAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	111	111			NA	NA	6		NA											NA				17661976		2203	4300	6503	SO:0001583	missense			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789	9972	9972			8062	protein-coding gene	gene with protein product		603948	nucleoporin 153kD		NA	8110839	Standard		NM_001278209	NA	Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.1303G>T	6.37:g.17661976C>A	ENSP00000262077:p.Ala435Ser	NA	Q5T9I7	37	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.867447	0.32977	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.31769	1.48;1.48	5.62	4.74	0.60224	Nucleoporin, Nup153-like (1);	0.149996	0.31113	N	0.008233	T	0.06690	0.0171	N	0.05414	-0.055	0.41898	D	0.990406	B;B;B	0.21688	0.047;0.059;0.046	B;B;B	0.29353	0.025;0.101;0.031	T	0.22556	-1.0213	10	0.16420	T	0.52	-0.5263	8.1593	0.31190	0.1977:0.7191:0.0:0.0832	.	435;457;435	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	S	435;457;435	ENSP00000262077:A435S;ENSP00000444029:A435S	ENSP00000262077:A435S	A	-	1	0	NUP153	17769955	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.060000	0.41394	2.809000	0.96659	0.655000	0.94253	GCC	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039953.1		-	ENST00000262077.2	Missense_Mutation	SNP	6 : 17661976 - 17661976 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	738	139
FAM222B	55731	broad.mit.edu	37	17	27086440	27086440	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27086440C>T	ENST00000341217.5	-	3	752	c.537G>A	c.(535-537)ccG>ccA	p.P179P	FAM222B_ENST00000582266.1_3'UTR|FAM222B_ENST00000452648.3_Silent_p.P179P|FAM222B_ENST00000582059.1_3'UTR|FAM222B_ENST00000581407.1_Silent_p.P179P|FAM222B_ENST00000583953.1_3'UTR	NM_018182.2	NP_060652.2	Q8WU58	CQ063_HUMAN	family with sequence similarity 222, member B	179	Gln-rich.										NA						CCTGGGGTGGCGGGATACCCT	0.711		NA											C	1	5e-04	NA	NA	2184	NA	0.9991	,	,	NA	4e-04	0.0013	NA	NA	9e-04	0.5149	EXOME	NA	NA	7e-04	SNP								NA				0								C	,	1,4047		0,1,2023	8	10	10		537,537	-1.5	1	17		10	3,8315		0,3,4156	no	coding-synonymous,coding-synonymous	C17orf63	NM_001077498.1,NM_018182.2	,	0,4,6179	TT,TC,CC	NA	0.0361,0.0247,0.0323	,	179/563,179/563	27086440	4,12362	2024	4159	6183	SO:0001819	synonymous_variant			AK001562	CCDS45637.1, CCDS74022.1	17q11.2	2012-04-27	2012-04-27	2012-04-27	ENSG00000173065	ENSG00000173065	55731	55731			25563	protein-coding gene	gene with protein product			chromosome 17 open reading frame 63	C17orf63	NA		Standard	NM_018182	NM_001288631	NA	Approved	FLJ10700	uc010way.1	Q8WU58		ENST00000341217.5:c.537G>A	17.37:g.27086440C>T		NA	Q9H6F3|Q9NVJ4|Q9NXN6	37	CCDS45637.1																																																																																			FAM222B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000446703.1		-	ENST00000341217.5	Silent	SNP	17 : 27086440 - 27086440 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	75	10
MYBBP1A	10514	broad.mit.edu	37	17	4455562	4455562	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4455562C>T	ENST00000254718.4	-	7	1069	c.763G>A	c.(763-765)Gcc>Acc	p.A255T	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.A255T			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	255	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						ACAGAGGAGGCGGCCATCTTC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	73	75			NA	NA	17		NA											NA				4455562		2203	4300	6503	SO:0001583	missense			AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382	10514	10514			7546	protein-coding gene	gene with protein product	p53-activated protein-2	604885			NA	10644447	Standard	NM_014520	NM_014520	NA	Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.763G>A	17.37:g.4455562C>T	ENSP00000254718:p.Ala255Thr	NA	Q86VM3|Q9BW49|Q9P0V5|Q9UF99	37	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	c	16.67	3.187487	0.57909	.	.	ENSG00000132382	ENST00000381556;ENST00000254718;ENST00000426435	T;T	0.67345	-0.26;-0.26	5.78	1.52	0.23074	Armadillo-type fold (1);	0.293259	0.37906	N	0.001897	T	0.67505	0.2900	M	0.64997	1.995	0.33679	D	0.611828	D;D	0.60160	0.987;0.984	P;P	0.55161	0.679;0.77	T	0.69698	-0.5075	10	0.30854	T	0.27	-9.8343	5.999	0.19509	0.2503:0.5632:0.1206:0.0659	.	255;255	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	T	255	ENSP00000370968:A255T;ENSP00000254718:A255T	ENSP00000254718:A255T	A	-	1	0	MYBBP1A	4402311	0.892000	0.30473	0.001000	0.08648	0.000000	0.00434	2.404000	0.44539	0.154000	0.19237	-0.829000	0.03081	GCC	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207488.2		-	ENST00000254718.4	Missense_Mutation	SNP	17 : 4455562 - 4455562 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	446	65
FOXF2	2295	broad.mit.edu	37	6	1391220	1391220	+	Silent	SNP	G	G	A	rs144247905	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:1391220G>A	ENST00000259806.1	+	1	1152	c.1038G>A	c.(1036-1038)tcG>tcA	p.S346S		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	346					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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 factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		CTGGCGCCTCGCCTTACCTCA	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	11	11			NA	NA	6		NA											NA				1391220		2167	4227	6394	SO:0001819	synonymous_variant			U13220	CCDS4472.1	6p25.3	2008-04-10			ENSG00000137273	ENSG00000137273	2295	2295		Forkhead boxes	3810	protein-coding gene	gene with protein product		603250		FKHL6	NA	9799607, 7957066	Standard		NM_001452	NA	Approved	FREAC2	uc003mtm.3	Q12947	OTTHUMG00000016243	ENST00000259806.1:c.1038G>A	6.37:g.1391220G>A		NA	Q5TGJ1|Q9UQ85	37	CCDS4472.1																																																																																			FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043558.1		+	ENST00000259806.1	Silent	SNP	6 : 1391220 - 1391220 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	109	15
ZNF462	58499	broad.mit.edu	37	9	109746472	109746472	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109746472C>T	ENST00000441147.2	+	8	3556	c.3556C>T	c.(3556-3558)Cgt>Tgt	p.R1186C	RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000457913.1_Missense_Mutation_p.R2340C|ZNF462_ENST00000277225.5_Missense_Mutation_p.R2280C|ZNF462_ENST00000542028.1_Missense_Mutation_p.R237C			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2280					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R2280C(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CACAGAAGAGCGTGTTGTCCC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											84	81	82			NA	NA	9		NA											NA				109746472		2203	4300	6503	SO:0001583	missense			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143	58499	58499		Zinc fingers, C2H2-type	21684	protein-coding gene	gene with protein product					NA		Standard	NM_021224	NM_021224	NA	Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000441147.2:c.3556C>T	9.37:g.109746472C>T	ENSP00000397306:p.Arg1186Cys	NA	Q5T0T4|Q8N408	37		.	.	.	.	.	.	.	.	.	.	C	18.85	3.712064	0.68730	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147;ENST00000542028	T;T;T;T;T	0.17054	3.29;3.78;3.87;3.85;2.3	5.67	3.69	0.42338	.	0.000000	0.85682	D	0.000000	T	0.43010	0.1228	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.50127	-0.8864	10	0.87932	D	0	.	14.8015	0.69919	0.5116:0.4884:0.0:0.0	.	2340;2280	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	C	2280;2340;1223;1186;237	ENSP00000277225:R2280C;ENSP00000414570:R2340C;ENSP00000363818:R1223C;ENSP00000397306:R1186C;ENSP00000439771:R237C	ENSP00000277225:R2280C	R	+	1	0	ZNF462	108786293	1.000000	0.71417	0.999000	0.59377	0.932000	0.56968	1.379000	0.34340	1.293000	0.44690	0.655000	0.94253	CGT	ZNF462-009	NOVEL	NAGNAG_splice_site|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000356384.1		+	ENST00000441147.2	Missense_Mutation	SNP	9 : 109746472 - 109746472 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	54
BICD1	636	broad.mit.edu	37	12	32481286	32481286	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32481286C>T	ENST00000548411.1	+	5	2078	c.1897C>T	c.(1897-1899)Cgg>Tgg	p.R633W	BICD1_ENST00000281474.5_Missense_Mutation_p.R633W	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	633					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			TGCCATAATCCGGGACCAAAT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	142	142			NA	NA	12		NA											NA				32481286		2203	4300	6503	SO:0001583	missense			U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746	636	636			1049	protein-coding gene	gene with protein product		602204	Bicaudal D (Drosophila) homolog 1		NA	9367685	Standard	NM_001714	NM_001714	NA	Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000548411.1:c.1897C>T	12.37:g.32481286C>T	ENSP00000446793:p.Arg633Trp	NA	A8K2C3|O43892|O43893	37	CCDS44859.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921531	0.52653	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.53640	0.61;0.61	5.2	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.71643	0.3364	M	0.86573	2.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.973;0.991	T	0.78033	-0.2362	10	0.87932	D	0	.	14.9211	0.70838	0.233:0.767:0.0:0.0	.	633;633	F8W113;Q96G01	.;BICD1_HUMAN	W	633	ENSP00000446793:R633W;ENSP00000281474:R633W	ENSP00000281474:R633W	R	+	1	2	BICD1	32372553	0.937000	0.31787	1.000000	0.80357	0.991000	0.79684	0.460000	0.21924	2.415000	0.81967	0.655000	0.94253	CGG	BICD1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403379.2		+	ENST00000548411.1	Missense_Mutation	SNP	12 : 32481286 - 32481286 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	673	129
CDCP2	200008	broad.mit.edu	37	1	54606931	54606931	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54606931G>A	ENST00000371330.1	-	3	1450	c.603C>T	c.(601-603)gaC>gaT	p.D201D	RP11-446E24.4_ENST00000525949.1_5'UTR	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	201	CUB 2.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CAGCCACGTAGTCATAGGTGC	0.662		NA											G	0	0	NA	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0	0	EXOME	NA	NA	3e-04	SNP								NA				0													72	66	68			NA	NA	1		NA											NA				54606931		2203	4300	6503	SO:0001819	synonymous_variant				CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211	200008	200008			27297	protein-coding gene	gene with protein product		612320			NA	12477932	Standard	NM_201546	NM_201546	NA	Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.603C>T	1.37:g.54606931G>A		NA	Q6ZWJ3	37	CCDS588.2																																																																																			CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022209.2		-	ENST00000371330.1	Silent	SNP	1 : 54606931 - 54606931 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	287	55
ATE1	11101	broad.mit.edu	37	10	123661906	123661906	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123661906C>A	ENST00000369043.3	-	6	899	c.813G>T	c.(811-813)gaG>gaT	p.E271D	ATE1_ENST00000481784.1_5'UTR|ATE1_ENST00000543447.1_Splice_Site_p.E156D|ATE1_ENST00000369040.3_Splice_Site_p.E175D|ATE1_ENST00000224652.6_Splice_Site_p.E271D|ATE1_ENST00000535655.1_Intron|ATE1_ENST00000540606.1_Splice_Site_p.E264D	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	271					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				TCCAAAGTACCTCTAACTTGT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	79	78			NA	NA	10		NA											NA				123661906		2203	4300	6503	SO:0001630	splice_region_variant			AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	11101	11101	2.3.2.8		782	protein-coding gene	gene with protein product		607103			NA	16002466, 16943202	Standard	NM_001001976	XM_005269458	NA	Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000369043.3:c.813+1G>T	10.37:g.123661906C>A		NA	O95261|Q5SQQ3|Q8WW04	37	CCDS31299.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.140442|5.140442	0.94560|0.94560	.|.	.|.	ENSG00000107669|ENSG00000107669	ENST00000369043;ENST00000224652;ENST00000369040;ENST00000540606;ENST00000543447|ENST00000423243	.|.	.|.	.|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78020|0.78020	0.4218|0.4218	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	P;P;D;D|.	0.89917|.	0.89;0.944;0.98;1.0|.	P;P;P;D|.	0.76071|.	0.607;0.766;0.806;0.987|.	T|T	0.78099|0.78099	-0.2336|-0.2336	8|5	.|.	.|.	.|.	-21.7068|-21.7068	18.9376|18.9376	0.92592|0.92592	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	264;175;271;271|.	F5GXE4;B4E107;O95260;O95260-2|.	.;.;ATE1_HUMAN;.|.	D|C	271;271;175;264;156|268	.|.	.|.	E|G	-|-	3|1	2|0	ATE1|ATE1	123651896|123651896	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	7.205000|7.205000	0.77881|0.77881	2.706000|2.706000	0.92434|0.92434	0.557000|0.557000	0.71058|0.71058	GAG|GGT	ATE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050738.1	Missense_Mutation	-	ENST00000369043.3	Splice_Site	SNP	10 : 123661906 - 123661906 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	377	64
ROBO3	64221	broad.mit.edu	37	11	124742317	124742317	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124742317G>A	ENST00000397801.1	+	8	1391	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	ROBO3_ENST00000538940.1_Missense_Mutation_p.R378H	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	400	Ig-like C2-type 4.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CCGACGGGGCGCTTCTCAGTG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	75	74			NA	NA	11		NA											NA				124742317		2050	4198	6248	SO:0001583	missense			AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134	64221	64221		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	13433	protein-coding gene	gene with protein product		608630	roundabout (axon guidance receptor, Drosophila) homolog 3, horizontal gaze palsy with progressive scoliosis	HGPPS	NA	15105459	Standard	XM_370663	NM_022370	NA	Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.1199G>A	11.37:g.124742317G>A	ENSP00000380903:p.Arg400His	NA		37	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643303	0.87859	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.79653	-1.29;-1.29	5.7	5.7	0.88788	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.42053	D	0.000777	D	0.89252	0.6662	M	0.66506	2.035	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88843	0.3314	10	0.54805	T	0.06	.	19.4278	0.94751	0.0:0.0:1.0:0.0	.	400	Q96MS0	ROBO3_HUMAN	H	400;378	ENSP00000380903:R400H;ENSP00000441797:R378H	ENSP00000380903:R400H	R	+	2	0	ROBO3	124247527	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	5.583000	0.67484	2.695000	0.91970	0.655000	0.94253	CGC	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387091.1		+	ENST00000397801.1	Missense_Mutation	SNP	11 : 124742317 - 124742317 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	387	90
C1D	10438	broad.mit.edu	37	2	68274319	68274319	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68274319C>T	ENST00000407324.1	-	3	396	c.241G>A	c.(241-243)Gag>Aag	p.E81K	C1D_ENST00000355848.3_Missense_Mutation_p.E42K|C1D_ENST00000409302.1_Missense_Mutation_p.E42K|C1D_ENST00000410067.3_Missense_Mutation_p.E42K			Q13901	C1D_HUMAN	C1D nuclear receptor corepressor	42	Interaction with NR1D1 (By similarity).|Required for transcriptional repression (By similarity).				apoptosis|maturation of 5.8S rRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear exosome (RNase complex)|nucleolus	DNA binding|RNA binding			lung(2)|urinary_tract(1)	3						TGCAACAACTCATTTCTAGAA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	52	52			NA	NA	2		NA											NA				68274319		2203	4299	6502	SO:0001583	missense				CCDS1883.1	2p13-p12	2010-06-10	2010-06-10		ENSG00000197223	ENSG00000197223	10438	10438			29911	protein-coding gene	gene with protein product	small unique nuclear receptor co-repressor	606997	C1D nuclear receptor co-repressor		NA	9469821, 17599775, 17412707, 11801738, 9405624	Standard	NM_006333	NM_006333	NA	Approved	SUNCOR, SUN-CoR, LRP1	uc002seb.3	Q13901	OTTHUMG00000129564	ENST00000407324.1:c.241G>A	2.37:g.68274319C>T	ENSP00000384304:p.Glu81Lys	NA	A8K336|D6W5F8|Q05D64	37		.	.	.	.	.	.	.	.	.	.	C	31	5.066926	0.93898	.	.	ENSG00000197223	ENST00000355848;ENST00000407324;ENST00000410067;ENST00000409302	T;T;T;T	0.52754	0.68;0.65;0.68;0.68	5.29	5.29	0.74685	.	0.091917	0.85682	D	0.000000	T	0.59059	0.2166	M	0.80982	2.52	0.80722	D	1	P	0.43938	0.822	P	0.45276	0.475	T	0.61496	-0.7051	10	0.37606	T	0.19	-21.2335	19.2911	0.94100	0.0:1.0:0.0:0.0	.	42	Q13901	C1D_HUMAN	K	42;81;42;42	ENSP00000348107:E42K;ENSP00000384304:E81K;ENSP00000386468:E42K;ENSP00000386779:E42K	ENSP00000348107:E42K	E	-	1	0	C1D	68127823	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.129000	0.64739	2.651000	0.90000	0.491000	0.48974	GAG	C1D-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000326399.2		-	ENST00000407324.1	Missense_Mutation	SNP	2 : 68274319 - 68274319 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	49
HEATR2	54919	broad.mit.edu	37	7	801405	801405	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:801405C>T	ENST00000297440.6	+	7	1506	c.1486C>T	c.(1486-1488)Cgc>Tgc	p.R496C	HEATR2_ENST00000313147.5_Missense_Mutation_p.R496C	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	496							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CTACCTGGAGCGCCTGCTGCT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	63	72			NA	NA	7		NA											NA				801405		2201	4300	6501	SO:0001583	missense			AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818	54919	54919			26013	protein-coding gene	gene with protein product		614864			NA	23040496	Standard	NM_017802	NM_017802	NA	Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.1486C>T	7.37:g.801405C>T	ENSP00000297440:p.Arg496Cys	NA	Q69YL1|Q96FI9|Q9NX75	37	CCDS34580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.47|15.47	2.842869|2.842869	0.51057|0.51057	.|.	.|.	ENSG00000164818|ENSG00000164818	ENST00000440747|ENST00000297440;ENST00000313147;ENST00000537862	.|T;T	.|0.31510	.|1.49;1.49	5.38|5.38	2.45|2.45	0.29901|0.29901	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.320952	.|0.33895	.|N	.|0.004444	T|T	0.24624|0.24624	0.0597|0.0597	N|N	0.22421|0.22421	0.69|0.69	0.32099|0.32099	N|N	0.590828|0.590828	.|D;D	.|0.63046	.|0.987;0.992	.|B;P	.|0.49502	.|0.409;0.613	T|T	0.24048|0.24048	-1.0171|-1.0171	5|10	.|0.45353	.|T	.|0.12	-17.9518|-17.9518	8.198|8.198	0.31409|0.31409	0.3049:0.621:0.0:0.0741|0.3049:0.621:0.0:0.0741	.|.	.|496;242	.|Q86Y56;F5H8D4	.|HEAT2_HUMAN;.	V|C	297|496;496;242	.|ENSP00000297440:R496C;ENSP00000321451:R496C	.|ENSP00000297440:R496C	A|R	+|+	2|1	0|0	HEATR2|HEATR2	767931|767931	0.999000|0.999000	0.42202|0.42202	0.913000|0.913000	0.36048|0.36048	0.296000|0.296000	0.27459|0.27459	1.696000|1.696000	0.37773|0.37773	0.186000|0.186000	0.20125|0.20125	0.561000|0.561000	0.74099|0.74099	GCG|CGC	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322542.1		+	ENST00000297440.6	Missense_Mutation	SNP	7 : 801405 - 801405 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	82	20
PRRC2A	7916	broad.mit.edu	37	6	31595695	31595695	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31595695C>T	ENST00000376033.2	+	12	1678	c.1444C>T	c.(1444-1446)Cgc>Tgc	p.R482C	PRRC2A_ENST00000376007.4_Missense_Mutation_p.R482C	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	482	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GCAAGAAGAGCGCCGGGCAGC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	88	84			NA	NA	6		NA											NA				31595695		1511	2709	4220	SO:0001583	missense			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469	7916	7916			13918	protein-coding gene	gene with protein product		142580	HLA-B associated transcript 2	BAT2	NA	2156268, 8499947	Standard	NM_080686	NM_080686	NA	Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.1444C>T	6.37:g.31595695C>T	ENSP00000365201:p.Arg482Cys	NA	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	37	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.465879	0.26335	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.16073	2.37;2.37	4.38	4.38	0.52667	.	0.000000	0.49305	D	0.000154	T	0.28699	0.0711	M	0.67397	2.05	0.58432	D	0.999998	D	0.89917	1.0	D	0.80764	0.994	T	0.01643	-1.1305	10	0.87932	D	0	-8.4093	11.4533	0.50167	0.1804:0.8196:0.0:0.0	.	482	P48634	PRC2A_HUMAN	C	482;471;482;482	ENSP00000365175:R482C;ENSP00000365201:R482C	ENSP00000365175:R482C	R	+	1	0	PRRC2A	31703674	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.351000	0.34022	2.453000	0.82957	0.561000	0.74099	CGC	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000259319.1		+	ENST00000376033.2	Missense_Mutation	SNP	6 : 31595695 - 31595695 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	929	185
NLRP10	338322	broad.mit.edu	37	11	7981244	7981244	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7981244A>G	ENST00000328600.2	-	2	2076	c.1915T>C	c.(1915-1917)Tct>Cct	p.S639P		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	639							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTTCCAGTAGAAGCTTCCTTT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	101	104			NA	NA	11		NA											NA				7981244		2201	4296	6497	SO:0001583	missense			AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261	338322	338322		Nucleotide-binding domain and leucine rich repeat containing	21464	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10	609662	NACHT, leucine rich repeat and PYD containing 10	NALP10	NA	12563287	Standard	NM_176821	NM_176821	NA	Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1915T>C	11.37:g.7981244A>G	ENSP00000327763:p.Ser639Pro	NA	Q2M3C4|Q6JGT0	37	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	A	7.079	0.569889	0.13560	.	.	ENSG00000182261	ENST00000328600	T	0.81163	-1.46	3.06	-0.651	0.11454	.	0.639490	0.12224	N	0.488049	T	0.64125	0.2570	L	0.29908	0.895	0.09310	N	1	B	0.18863	0.031	B	0.14578	0.011	T	0.50215	-0.8854	10	0.41790	T	0.15	.	3.156	0.06504	0.5467:0.2216:0.2317:0.0	.	639	Q86W26	NAL10_HUMAN	P	639	ENSP00000327763:S639P	ENSP00000327763:S639P	S	-	1	0	NLRP10	7937820	0.006000	0.16342	0.000000	0.03702	0.048000	0.14542	0.503000	0.22610	-0.136000	0.11475	0.460000	0.39030	TCT	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385705.1		-	ENST00000328600.2	Missense_Mutation	SNP	11 : 7981244 - 7981244 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	10
BAZ2B	29994	broad.mit.edu	37	2	160295624	160295624	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160295624C>A	ENST00000392783.2	-	7	1291	c.796G>T	c.(796-798)Gat>Tat	p.D266Y	BAZ2B_ENST00000343439.5_Missense_Mutation_p.D264Y|BAZ2B_ENST00000355831.2_Missense_Mutation_p.D266Y|BAZ2B_ENST00000392782.1_Missense_Mutation_p.D264Y	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						tctAGATCATCTGAATCACTG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													308	274	285			NA	NA	2		NA											NA				160295624		1932	4144	6076	SO:0001583	missense			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636	29994	29994		Zinc fingers, PHD-type	963	protein-coding gene	gene with protein product		605683			NA	10662543	Standard		XM_005246488	NA	Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.796G>T	2.37:g.160295624C>A	ENSP00000376534:p.Asp266Tyr	NA	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	37	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548459	0.65311	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335	T;T;T;T	0.08984	3.03;3.03;3.03;3.03	5.51	5.51	0.81932	.	0.000000	0.38164	U	0.001791	T	0.29355	0.0731	M	0.62723	1.935	0.58432	D	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.998;0.998;0.998;0.982;0.982;0.96	T	0.00638	-1.1632	10	0.87932	D	0	-16.055	19.4202	0.94719	0.0:1.0:0.0:0.0	.	264;203;266;264;264;266	Q6MZK7;F5H6H2;Q9UIF8-3;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;.;.;BAZ2B_HUMAN	Y	264;266;266;264;203	ENSP00000376533:D264Y;ENSP00000376534:D266Y;ENSP00000348087:D266Y;ENSP00000339670:D264Y	ENSP00000339670:D264Y	D	-	1	0	BAZ2B	160003870	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.237000	0.78164	2.558000	0.86282	0.563000	0.77884	GAT	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255037.2		-	ENST00000392783.2	Missense_Mutation	SNP	2 : 160295624 - 160295624 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	773	127
MTUS2	23281	broad.mit.edu	37	13	29599490	29599490	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:29599490A>G	ENST00000431530.3	+	1	743	c.685A>G	c.(685-687)Aca>Gca	p.T229A		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	219						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GCCACAGAAGACATTGCCAGA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	42	41			NA	NA	13		NA											NA				29599490		2198	4300	6498	SO:0001583	missense			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938	23281	23281			20595	protein-coding gene	gene with protein product	+TIP of 150 kDa, cardiac zipper protein		KIAA0774	KIAA0774	NA	19543227	Standard	XM_166270	NM_001033602	NA	Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.685A>G	13.37:g.29599490A>G	ENSP00000392057:p.Thr229Ala	NA	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	37	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	a	17.45	3.392520	0.62066	.	.	ENSG00000132938	ENST00000431530	T	0.14893	2.47	5.49	1.63	0.23807	.	0.382752	0.22018	N	0.065762	T	0.11367	0.0277	L	0.47716	1.5	0.09310	N	1	P	0.42296	0.775	B	0.38156	0.266	T	0.15723	-1.0427	9	.	.	.	.	2.0027	0.03471	0.5035:0.1441:0.0754:0.2771	.	219	Q5JR59	MTUS2_HUMAN	A	229	ENSP00000392057:T229A	.	T	+	1	0	MTUS2	28497490	0.581000	0.26741	0.002000	0.10522	0.369000	0.29798	1.212000	0.32394	0.332000	0.23536	0.459000	0.35465	ACA	MTUS2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044336.3		+	ENST00000431530.3	Missense_Mutation	SNP	13 : 29599490 - 29599490 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	271	62
PLCB2	5330	broad.mit.edu	37	15	40584302	40584302	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40584302G>T	ENST00000260402.3	-	23	2738	c.2489C>A	c.(2488-2490)tCt>tAt	p.S830Y	PLCB2_ENST00000557821.1_Missense_Mutation_p.S826Y|PLCB2_ENST00000456256.2_Missense_Mutation_p.S830Y	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	830					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GAGCTTCACAGACTTCGTGTC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	100	98			NA	NA	15		NA											NA				40584302		2067	4214	6281	SO:0001583	missense				CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	5330	5330	3.1.4.11		9055	protein-coding gene	gene with protein product		604114			NA	1644792, 9925923	Standard		XM_005254448	NA	Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.2489C>A	15.37:g.40584302G>T	ENSP00000260402:p.Ser830Tyr	NA	A8K6J2	37	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.161357	0.57368	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.23950	1.91;1.88	4.71	4.71	0.59529	.	0.370926	0.28784	N	0.014151	T	0.41858	0.1177	L	0.52011	1.625	0.80722	D	1	P;D;P	0.63880	0.911;0.993;0.62	B;P;B	0.62649	0.424;0.905;0.396	T	0.22312	-1.0220	10	0.72032	D	0.01	.	13.5805	0.61901	0.0782:0.0:0.9218:0.0	.	830;826;830	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	Y	830	ENSP00000260402:S830Y;ENSP00000411991:S830Y	ENSP00000260402:S830Y	S	-	2	0	PLCB2	38371594	1.000000	0.71417	0.991000	0.47740	0.410000	0.31052	4.878000	0.63093	2.605000	0.88082	0.491000	0.48974	TCT	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418430.1		-	ENST00000260402.3	Missense_Mutation	SNP	15 : 40584302 - 40584302 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	467	86
COLEC12	81035	broad.mit.edu	37	18	335154	335154	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:335154C>A	ENST00000400256.3	-	6	1611	c.1404G>T	c.(1402-1404)caG>caT	p.Q468H		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	468	Collagen-like 1.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TCTCTCCTTTCTGTCCCTTGT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	36	35			NA	NA	18		NA											NA				335154		2192	4292	6484	SO:0001583	missense			AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270	81035	81035		Collectins	16016	protein-coding gene	gene with protein product		607621			NA	11162630	Standard		NM_130386	NA	Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1404G>T	18.37:g.335154C>A	ENSP00000383115:p.Gln468His	NA	Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	37	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.175481	0.38413	.	.	ENSG00000158270	ENST00000400256	D	0.86164	-2.08	5.66	3.86	0.44501	.	0.100946	0.64402	D	0.000002	D	0.83797	0.5332	N	0.22421	0.69	0.40914	D	0.984257	D	0.56746	0.977	P	0.59288	0.855	T	0.82448	-0.0452	10	0.46703	T	0.11	-14.5309	4.8189	0.13381	0.1542:0.5913:0.0:0.2545	.	468	Q5KU26	COL12_HUMAN	H	468	ENSP00000383115:Q468H	ENSP00000383115:Q468H	Q	-	3	2	COLEC12	325154	0.277000	0.24220	1.000000	0.80357	0.992000	0.81027	-0.319000	0.08039	1.376000	0.46267	0.655000	0.94253	CAG	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000440746.1		-	ENST00000400256.3	Missense_Mutation	SNP	18 : 335154 - 335154 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	71
SEC61A2	55176	broad.mit.edu	37	10	12197864	12197864	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:12197864G>A	ENST00000379020.4	+	7	611	c.550G>A	c.(550-552)Gcc>Acc	p.A184T	SEC61A2_ENST00000304267.8_Missense_Mutation_p.A184T|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000298428.9_Missense_Mutation_p.A184T|SEC61A2_ENST00000379033.3_Missense_Mutation_p.A162T			Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	184						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				CCTCTTTATTGCCACCAACAT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													279	245	257			NA	NA	10		NA											NA				12197864		2203	4300	6503	SO:0001583	missense			AF346603	CCDS7088.1, CCDS44358.1, CCDS44359.1	10p14	2004-01-06			ENSG00000065665	ENSG00000065665	55176	55176			17702	protein-coding gene	gene with protein product					NA		Standard	NM_018144	NM_018144	NA	Approved	FLJ10578	uc001ile.2	Q9H9S3	OTTHUMG00000017679	ENST00000379020.4:c.550G>A	10.37:g.12197864G>A	ENSP00000368306:p.Ala184Thr	NA	A8K8D0	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.493699|5.493699	0.96339|0.96339	.|.	.|.	ENSG00000065665|ENSG00000065665	ENST00000379033;ENST00000298428;ENST00000304267;ENST00000379020|ENST00000419021	.|.	.|.	.|.	5.73|5.73	5.73|5.73	0.89815|0.89815	SecY subunit domain (2);|.	0.000000|.	0.64402|.	D|.	0.000001|.	D|D	0.85737|0.85737	0.5766|0.5766	M|M	0.90814|0.90814	3.15|3.15	0.80722|0.80722	D|D	1|1	D;P;D|.	0.64830|.	0.994;0.936;0.981|.	D;D;D|.	0.67382|.	0.909;0.921;0.951|.	D|D	0.87420|0.87420	0.2381|0.2381	9|5	0.41790|.	T|.	0.15|.	-12.905|-12.905	19.2577|19.2577	0.93952|0.93952	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	162;184;184|.	F8W773;Q9H9S3-2;Q9H9S3|.	.;.;S61A2_HUMAN|.	T|Y	162;184;184;184|65	.|.	ENSP00000298428:A184T|.	A|C	+|+	1|2	0|0	SEC61A2|SEC61A2	12237870|12237870	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.835000|9.835000	0.99442|0.99442	2.854000|2.854000	0.98071|0.98071	0.655000|0.655000	0.94253|0.94253	GCC|TGC	SEC61A2-010	KNOWN	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000046796.2		+	ENST00000379020.4	Missense_Mutation	SNP	10 : 12197864 - 12197864 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1224	228
TMEM64	169200	broad.mit.edu	37	8	91657411	91657411	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:91657411T>C	ENST00000458549.2	-	1	900	c.723A>G	c.(721-723)ggA>ggG	p.G241G	TMEM64_ENST00000418210.2_Silent_p.G241G|TMEM64_ENST00000519519.1_Intron	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64	241						integral to membrane				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			TCAGGCCGCTTCCTCCCTCCA	0.617		NA									OREG0018858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	63	63			NA	NA	8		NA											NA				91657411		2203	4300	6503	SO:0001819	synonymous_variant			AL834364	CCDS34920.2, CCDS55260.1	8q21.3	2005-08-09			ENSG00000180694	ENSG00000180694	169200	169200			25441	protein-coding gene	gene with protein product					NA		Standard	NM_001008495	NM_001008495	NA	Approved	DKFZp762C1112	uc003yen.2	Q6YI46	OTTHUMG00000157185	ENST00000458549.2:c.723A>G	8.37:g.91657411T>C		1284	Q2HIZ7|Q8N3G6	37	CCDS34920.2																																																																																			TMEM64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347825.1		-	ENST00000458549.2	Silent	SNP	8 : 91657411 - 91657411 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	276	63
THAP3	90326	broad.mit.edu	37	1	6692877	6692877	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6692877G>T	ENST00000054650.4	+	6	618	c.460G>T	c.(460-462)Gca>Tca	p.A154S	THAP3_ENST00000307896.6_Missense_Mutation_p.A153S|THAP3_ENST00000377627.3_Intron	NM_001195753.1	NP_001182682.1	Q8WTV1	THAP3_HUMAN	THAP domain containing, apoptosis associated protein 3	154							DNA binding|metal ion binding			breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GAGGCCGCAAGCAACAGAGGC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	92	92			NA	NA	1		NA											NA				6692877		876	1991	2867	SO:0001583	missense			BC022081	CCDS86.1, CCDS55572.1, CCDS55573.1	1p36.1	2013-01-25			ENSG00000041988	ENSG00000041988	90326	90326		THAP (C2CH-type zinc finger) domain containing	20855	protein-coding gene	gene with protein product		612532			NA	12575992	Standard	NM_138350	NM_138350	NA	Approved		uc001aod.3	Q8WTV1	OTTHUMG00000001440	ENST00000054650.4:c.460G>T	1.37:g.6692877G>T	ENSP00000054650:p.Ala154Ser	NA	Q569K1|Q5TH66|Q5TH67|Q8N8T6|Q9BSC7|Q9Y3H2|Q9Y3H3	37	CCDS55572.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413824	0.25465	.	.	ENSG00000041988	ENST00000054650;ENST00000307896	D;D	0.95001	-3.58;-3.58	3.9	2.98	0.34508	.	1.429030	0.05053	N	0.478551	D	0.90539	0.7035	L	0.43152	1.355	0.09310	N	1	B;B	0.28291	0.206;0.131	B;B	0.25140	0.058;0.026	T	0.78181	-0.2304	10	0.13470	T	0.59	-14.5844	7.5838	0.27980	0.1194:0.0:0.8806:0.0	.	153;154	Q8WTV1-3;Q8WTV1	.;THAP3_HUMAN	S	154;153	ENSP00000054650:A154S;ENSP00000311537:A153S	ENSP00000054650:A154S	A	+	1	0	THAP3	6615464	0.005000	0.15991	0.001000	0.08648	0.008000	0.06430	1.455000	0.35190	0.965000	0.38133	0.462000	0.41574	GCA	THAP3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000004203.1		+	ENST00000054650.4	Missense_Mutation	SNP	1 : 6692877 - 6692877 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	556	47
HTATIP2	10553	broad.mit.edu	37	11	20388826	20388826	+	Missense_Mutation	SNP	C	C	T	rs148194087		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20388826C>T	ENST00000532081.1	+	2	399	c.302C>T	c.(301-303)gCg>gTg	p.A101V	HTATIP2_ENST00000443524.2_Splice_Site_p.A101V|HTATIP2_ENST00000530266.1_Missense_Mutation_p.A101V|HTATIP2_ENST00000532505.1_Missense_Mutation_p.A101V|HTATIP2_ENST00000451739.2_Splice_Site_p.A101V|HTATIP2_ENST00000419348.2_Splice_Site_p.A135V|HTATIP2_ENST00000421577.2_Splice_Site_p.A101V|HTATIP2_ENST00000531058.1_Splice_Site_p.A101V	NM_001098523.1	NP_001091993.1	Q9BUP3	HTAI2_HUMAN	HIV-1 Tat interactive protein 2, 30kDa	101					angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter	cytoplasm|nuclear envelope	NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity			large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						AAAGCTGGGGCGGTAAGGAAG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	251	244	247		404,302,302,302,302	5.6	1	11	dbSNP_134	247	1,8599	1.2+/-3.3	0,1,4299	yes	missense-near-splice,missense-near-splice,missense-near-splice,missense,missense-near-splice	HTATIP2	NM_001098520.1,NM_001098521.1,NM_001098522.1,NM_001098523.1,NM_006410.4	64,64,64,64,64	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign,benign,benign,benign,benign	135/277,101/243,101/243,101/134,101/243	20388826	1,13005	2203	4300	6503	SO:0001583	missense			AF039103	CCDS7852.1, CCDS44553.1, CCDS53613.1	11p15.1	2011-09-14	2002-08-29		ENSG00000109854	ENSG00000109854	10553	10553	1.1.1.-	Short chain dehydrogenase/reductase superfamily / Atypical members	16637	protein-coding gene	gene with protein product	Tat-interacting protein (30kD), short chain dehydrogenase/reductase family 44U, member 1	605628	HIV-1 Tat interactive protein 2, 30 kDa		NA	9482853, 9174052, 19027726	Standard	NM_001098521	NM_006410	NA	Approved	TIP30, CC3, FLJ26963, SDR44U1	uc001mpx.2	Q9BUP3	OTTHUMG00000166015	ENST00000532081.1:c.302C>T	11.37:g.20388826C>T	ENSP00000432107:p.Ala101Val	NA	A8K7S7|D3DQY8|O15383|O60520|O95345|Q53GC1|Q53GG2|Q6IBI3	37	CCDS53613.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.125446	0.56721	0.0	1.16E-4	ENSG00000109854	ENST00000530266;ENST00000421577;ENST00000443524;ENST00000419348;ENST00000451739;ENST00000532505;ENST00000532081;ENST00000531058	T;T;T;T;T;T;T;T	0.32023	1.47;1.55;1.55;1.55;1.55;1.47;1.47;1.55	5.6	5.6	0.85130	Semialdehyde dehydrogenase, NAD-binding (1);NAD(P)-binding domain (1);	0.145254	0.64402	D	0.000008	T	0.35189	0.0923	L	0.36672	1.1	0.23823	N	0.996744	P;D;B	0.65815	0.813;0.995;0.42	B;P;B	0.54499	0.266;0.754;0.014	T	0.18304	-1.0341	10	0.30078	T	0.28	-15.037	12.1009	0.53783	0.1716:0.8283:0.0:0.0	.	101;101;135	Q9BUP3;Q9BUP3-2;Q9BUP3-3	HTAI2_HUMAN;.;.	V	101;101;101;135;101;101;101;101	ENSP00000436548:A101V;ENSP00000397752:A101V;ENSP00000387876:A101V;ENSP00000392985:A135V;ENSP00000394259:A101V;ENSP00000432338:A101V;ENSP00000432107:A101V;ENSP00000436729:A101V	ENSP00000392985:A135V	A	+	2	0	HTATIP2	20345402	1.000000	0.71417	0.999000	0.59377	0.189000	0.23516	3.083000	0.50136	2.633000	0.89246	0.555000	0.69702	GCG	HTATIP2-007	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387446.2		+	ENST00000532081.1	Missense_Mutation	SNP	11 : 20388826 - 20388826 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	346	11
IRF2BPL	64207	broad.mit.edu	37	14	77493962	77493962	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77493962C>T	ENST00000238647.3	-	1	1072	c.174G>A	c.(172-174)aaG>aaA	p.K58K		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	58						nucleus				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						CGTGCGCCCGCTTCAGCTGGC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	13	12			NA	NA	14		NA											NA				77493962		2185	4275	6460	SO:0001819	synonymous_variant			AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669	64207	64207			14282	protein-coding gene	gene with protein product	enhanced at puberty 1	611720	chromosome 14 open reading frame 4	C14orf4	NA	11095982, 17627301	Standard	NM_024496	NM_024496	NA	Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.174G>A	14.37:g.77493962C>T		NA	Q8NDQ2|Q96JG2|Q9H3I7	37	CCDS9854.1																																																																																			IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414298.1		-	ENST00000238647.3	Silent	SNP	14 : 77493962 - 77493962 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	120	19
ZP4	57829	broad.mit.edu	37	1	238053923	238053923	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:238053923G>A	ENST00000366570.4	-	1	171	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	5					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.R5W(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AAAACGCACCGCAGCAGCCAC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(166;160 2029 11600 18754 19936)							NA				1	Substitution - Missense(1)	large_intestine(1)						G	TRP/ARG	0,4406		0,0,2203	38	38	38		13	-2.1	0	1		38	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZP4	NM_021186.3	101	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	5/541	238053923	1,13005	2203	4300	6503	SO:0001583	missense			U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996	57829	57829		Zona pellucida glycoproteins	15770	protein-coding gene	gene with protein product		613514			NA	7841460	Standard		NM_021186	NA	Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.13C>T	1.37:g.238053923G>A	ENSP00000355529:p.Arg5Trp	NA	B2RAE1	37	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.543054	0.27563	0.0	1.16E-4	ENSG00000116996	ENST00000366570	T	0.75260	-0.92	3.64	-2.11	0.07187	.	2.841300	0.01275	N	0.009565	T	0.53690	0.1812	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46665	-0.9175	10	0.62326	D	0.03	5.1698	4.3134	0.10981	0.4909:0.1788:0.3303:0.0	.	5	Q12836	ZP4_HUMAN	W	5	ENSP00000355529:R5W	ENSP00000355529:R5W	R	-	1	2	ZP4	236120546	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.091000	0.11146	-0.416000	0.07473	0.563000	0.77884	CGG	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095476.1		-	ENST00000366570.4	Missense_Mutation	SNP	1 : 238053923 - 238053923 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	47
SF3B3	23450	broad.mit.edu	37	16	70605707	70605707	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70605707C>T	ENST00000302516.5	+	26	3856	c.3645C>T	c.(3643-3645)taC>taT	p.Y1215Y		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1215					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GGACCCGCTACGCCTTCTGAG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4396		0,0,2198	89	77	81		3645	-2	1	16		81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SF3B3	NM_012426.4		0,1,6497	TT,TC,CC	NA	0.0116,0.0,0.0077		1215/1218	70605707	1,12995	2198	4300	6498	SO:0001819	synonymous_variant			AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091	23450	23450			10770	protein-coding gene	gene with protein product		605592	splicing factor 3b, subunit 3, 130kD		NA	10490618	Standard	NM_012426	NM_012426	NA	Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.3645C>T	16.37:g.70605707C>T		NA	Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	37	CCDS10894.1																																																																																			SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268972.1		+	ENST00000302516.5	Silent	SNP	16 : 70605707 - 70605707 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	302	64
SAMD9	54809	broad.mit.edu	37	7	92734599	92734599	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92734599T>C	ENST00000379958.2	-	3	1081	c.812A>G	c.(811-813)tAt>tGt	p.Y271C		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	271						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GTCTTCAAAATACTTGTTTAT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	148	149			NA	NA	7		NA											NA				92734599		2203	4300	6503	SO:0001583	missense			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413	54809	54809		Sterile alpha motif (SAM) domain containing	1348	protein-coding gene	gene with protein product		610456	chromosome 7 open reading frame 5	C7orf5	NA		Standard	NM_017654	NM_017654	NA	Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.812A>G	7.37:g.92734599T>C	ENSP00000369292:p.Tyr271Cys	NA	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	37	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	T	16.73	3.204867	0.58234	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.15718	2.4;2.4	4.34	4.34	0.51931	.	0.000000	0.56097	U	0.000039	T	0.34600	0.0903	L	0.54323	1.7	0.34310	D	0.68537	D	0.89917	1.0	D	0.75484	0.986	T	0.46247	-0.9205	10	0.44086	T	0.13	-9.2377	12.7423	0.57259	0.0:0.0:0.0:1.0	.	271	Q5K651	SAMD9_HUMAN	C	271	ENSP00000369292:Y271C;ENSP00000414529:Y271C	ENSP00000369292:Y271C	Y	-	2	0	SAMD9	92572535	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	3.483000	0.53194	1.948000	0.56530	0.491000	0.48974	TAT	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341761.1		-	ENST00000379958.2	Missense_Mutation	SNP	7 : 92734599 - 92734599 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	548	50
PSME4	23198	broad.mit.edu	37	2	54127092	54127092	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54127092G>A	ENST00000404125.1	-	29	3403	c.3348C>T	c.(3346-3348)aaC>aaT	p.N1116N	PSME4_ENST00000421748.2_Silent_p.N260N	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1116					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCAATATCTGGTTGATAGAGG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													182	183	183			NA	NA	2		NA											NA				54127092		2203	4300	6503	SO:0001819	synonymous_variant			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878	23198	23198		Proteasome (prosome, macropain) subunits	20635	protein-coding gene	gene with protein product		607705			NA	7584044, 12093752	Standard	XM_040158	NM_014614	NA	Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.3348C>T	2.37:g.54127092G>A		NA	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	37	CCDS33197.2																																																																																			PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324163.1		-	ENST00000404125.1	Silent	SNP	2 : 54127092 - 54127092 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	809	131
DNA2	1763	broad.mit.edu	37	10	70182500	70182500	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70182500C>A	ENST00000358410.3	-	15	2406	c.2356G>T	c.(2356-2358)Ggg>Tgg	p.G786W	DNA2_ENST00000399180.2_Missense_Mutation_p.G872W|DNA2_ENST00000399179.2_Intron	NM_001080449.2	NP_001073918.2	P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	786					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TGATGGTCCCCCACTAACACA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	36	36			NA	NA	10		NA											NA				70182500		1827	4076	5903	SO:0001583	missense			D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346	1763	1763			2939	protein-coding gene	gene with protein product		601810	DNA2 DNA replication helicase 2-like (yeast), DNA replication helicase 2 homolog (yeast)	DNA2L	NA	8938459, 17032657, 23352259	Standard		NM_001080449	NA	Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.2356G>T	10.37:g.70182500C>A	ENSP00000351185:p.Gly786Trp	NA	Q2NKM1|Q5TC49|Q6P455|Q6PI80|Q7Z6H9	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.109622|4.109622	0.77096|0.77096	.|.	.|.	ENSG00000138346|ENSG00000138346	ENST00000440722|ENST00000399180;ENST00000358410	.|D;D	.|0.99578	.|-6.21;-6.21	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.107348|0.107348	0.64402|0.64402	D|D	0.000005|0.000005	D|D	0.99816|0.99816	0.9919|0.9919	H|H	0.99211|0.99211	4.47|4.47	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.96968|0.96968	0.9706|0.9706	6|10	.|0.87932	.|D	.|0	.|.	13.0117|13.0117	0.58735|0.58735	0.0:0.9262:0.0:0.0738|0.0:0.9262:0.0:0.0738	.|.	.|786	.|P51530	.|DNA2L_HUMAN	V|W	107|872;786	.|ENSP00000382133:G872W;ENSP00000351185:G786W	.|ENSP00000351185:G786W	G|G	-|-	2|1	0|0	DNA2|DNA2	69852506|69852506	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.937000|0.937000	0.57800|0.57800	7.622000|7.622000	0.83099|0.83099	2.667000|2.667000	0.90743|0.90743	0.585000|0.585000	0.79938|0.79938	GGG|GGG	DNA2-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000048334.2		-	ENST00000358410.3	Missense_Mutation	SNP	10 : 70182500 - 70182500 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	210	44
ADAM18	8749	broad.mit.edu	37	8	39534975	39534975	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39534975T>G	ENST00000265707.5	+	15	1596	c.1551T>G	c.(1549-1551)tgT>tgG	p.C517W	ADAM18_ENST00000379866.1_Missense_Mutation_p.C493W|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	517	Cys-rich.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CATTTGCCTGTTTTAAAGAAG	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	83	83			NA	NA	8		NA											NA				39534975		2203	4299	6502	SO:0001583	missense			AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619	8749	8749		ADAM metallopeptidase domain containing	196	protein-coding gene	gene with protein product			a disintegrin and metalloproteinase domain 18		NA	12200459	Standard	NM_014237	NM_014237	NA	Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1551T>G	8.37:g.39534975T>G	ENSP00000265707:p.Cys517Trp	NA	B2R9Y0|Q0VAI4|Q6UXJ9	37	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	T	15.34	2.805065	0.50315	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	T;T	0.63744	-0.06;-0.06	4.3	0.516	0.17019	ADAM, cysteine-rich (2);	0.000000	0.51477	D	0.000091	T	0.81997	0.4941	H	0.96970	3.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79645	-0.1717	10	0.87932	D	0	.	6.6061	0.22726	0.0:0.265:0.0:0.735	.	493;517	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	W	517;493;449	ENSP00000265707:C517W;ENSP00000369195:C493W	ENSP00000265707:C517W	C	+	3	2	ADAM18	39654132	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.157000	0.16402	0.085000	0.17107	0.460000	0.39030	TGT	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376916.1		+	ENST00000265707.5	Missense_Mutation	SNP	8 : 39534975 - 39534975 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	256	45
LHX3	8022	broad.mit.edu	37	9	139090800	139090800	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139090800C>T	ENST00000371746.3	-	4	693	c.575G>A	c.(574-576)cGc>cAc	p.R192H	LHX3_ENST00000371748.5_Missense_Mutation_p.R187H	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	187					inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		GAGCTGCTCGCGCACGTGGCG	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	17	16			NA	NA	9		NA											NA				139090800		2188	4278	6466	SO:0001583	missense			AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187	8022	8022		Homeoboxes / LIM class	6595	protein-coding gene	gene with protein product		600577			NA	10598593, 10717474	Standard		NM_178138	NA	Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371746.3:c.575G>A	9.37:g.139090800C>T	ENSP00000360811:p.Arg192His	NA	Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	37	CCDS6995.1	.	.	.	.	.	.	.	.	.	.	C	34	5.323870	0.95708	.	.	ENSG00000107187	ENST00000371748;ENST00000371746;ENST00000325195	D;D	0.97529	-4.42;-4.41	3.81	3.81	0.43845	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.068967	0.64402	D	0.000012	D	0.99064	0.9679	H	0.98333	4.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98847	1.0757	10	0.87932	D	0	.	14.8468	0.70267	0.0:1.0:0.0:0.0	.	187;192	Q9UBR4;F1T0D9	LHX3_HUMAN;.	H	187;192;190	ENSP00000360813:R187H;ENSP00000360811:R192H	ENSP00000319224:R190H	R	-	2	0	LHX3	138230621	1.000000	0.71417	0.992000	0.48379	0.967000	0.64934	7.084000	0.76866	1.959000	0.56917	0.555000	0.69702	CGC	LHX3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055049.1		-	ENST00000371746.3	Missense_Mutation	SNP	9 : 139090800 - 139090800 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	90	15
CPSF2	53981	broad.mit.edu	37	14	92609433	92609433	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92609433A>G	ENST00000298875.4	+	9	1220	c.935A>G	c.(934-936)cAt>cGt	p.H312R		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	312					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		TCTTTATGTCATGGTCTTTCT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(78;28 1788 18702 44111)							NA				0													108	92	98			NA	NA	14		NA											NA				92609433		2203	4300	6503	SO:0001583	missense			AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934	53981	53981			2325	protein-coding gene	gene with protein product		606028	cleavage and polyadenylation specific factor 2, 100kD subunit		NA	7969155, 11124543	Standard		NM_017437	NA	Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.935A>G	14.37:g.92609433A>G	ENSP00000298875:p.His312Arg	NA	B3KME1|Q6NSJ1|Q9H3W7	37	CCDS9902.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.377984	0.82682	.	.	ENSG00000165934	ENST00000298875	T	0.42900	0.96	4.99	4.99	0.66335	Beta-Casp domain (1);	0.000000	0.85682	D	0.000000	T	0.60983	0.2311	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.58864	-0.7561	10	0.29301	T	0.29	.	15.0003	0.71466	1.0:0.0:0.0:0.0	.	312	Q9P2I0	CPSF2_HUMAN	R	312	ENSP00000298875:H312R	ENSP00000298875:H312R	H	+	2	0	CPSF2	91679186	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.172000	0.94808	1.996000	0.58369	0.402000	0.26972	CAT	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412123.1		+	ENST00000298875.4	Missense_Mutation	SNP	14 : 92609433 - 92609433 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	26
NEK11	79858	broad.mit.edu	37	3	130871281	130871281	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130871281G>A	ENST00000510769.1	+	7	900				NEK11_ENST00000356918.4_Missense_Mutation_p.A233T|NEK11_ENST00000507910.1_Missense_Mutation_p.A233T|NEK11_ENST00000429253.2_Missense_Mutation_p.A233T|NEK11_ENST00000383366.4_Missense_Mutation_p.A233T|NEK11_ENST00000510688.1_Missense_Mutation_p.A233T|NEK11_ENST00000508196.1_Missense_Mutation_p.A233T|NEK11_ENST00000511262.1_Missense_Mutation_p.A233T|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000412440.2_Missense_Mutation_p.A85T			Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	NA					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.A233P(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						TCATGCATTCGCTGGCTCCAA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											103	107	106			NA	NA	3		NA											NA				130871281		2203	4300	6503	SO:0001627	intron_variant			AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670	79858	79858			18593	protein-coding gene	gene with protein product		609779	NIMA (never in mitosis gene a)- related kinase 11		NA		Standard	NM_024800	NM_024800	NA	Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.648-9971G>A	3.37:g.130871281G>A		NA	A6NHD7|Q5JPC0|Q8NG65|Q8TBY1|Q9H5F4	37		.	.	.	.	.	.	.	.	.	.	G	3.217	-0.160429	0.06502	.	.	ENSG00000114670	ENST00000429253;ENST00000356918;ENST00000510688;ENST00000511262;ENST00000383366;ENST00000412440;ENST00000507910;ENST00000508196	T;T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.91	-3.99	0.04069	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.524667	0.17378	N	0.176402	T	0.27731	0.0682	N	0.05031	-0.125	0.26347	N	0.977277	B;B;B;B;B	0.09022	0.002;0.001;0.001;0.001;0.001	B;B;B;B;B	0.08055	0.002;0.003;0.002;0.003;0.001	T	0.25950	-1.0117	10	0.10377	T	0.69	.	4.8796	0.13672	0.4074:0.0:0.2913:0.3013	.	233;85;233;233;233	Q8NG66-3;B4DDN2;Q8NG66-4;Q8NG66;Q8NG66-2	.;.;.;NEK11_HUMAN;.	T	233;233;233;233;233;85;233;233	ENSP00000397180:A233T;ENSP00000349389:A233T;ENSP00000423458:A233T;ENSP00000425114:A233T;ENSP00000372857:A233T;ENSP00000411888:A85T;ENSP00000426662:A233T;ENSP00000421851:A233T	ENSP00000349389:A233T	A	+	1	0	NEK11	132353971	0.005000	0.15991	0.281000	0.24762	0.055000	0.15305	-0.415000	0.07106	-1.039000	0.03275	-0.787000	0.03339	GCT	NEK11-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000356757.1		+	ENST00000510769.1	Intron	SNP	3 : 130871281 - 130871281 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	516	122
ZIM2	23619	broad.mit.edu	37	19	57286700	57286700	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57286700T>C	ENST00000391708.3	-	12	1482	c.940A>G	c.(940-942)Ata>Gta	p.I314V	ZIM2_ENST00000599935.1_Missense_Mutation_p.I314V|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.I314V|ZIM2_ENST00000221722.5_Missense_Mutation_p.I314V|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.I314V|AC006115.3_ENST00000595954.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2	NA										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		CTCGTACATATTCCAGGAGCA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	125	128			NA	NA	19		NA											NA				57286700		2203	4300	6503	SO:0001583	missense			AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699	23619	23619		Zinc fingers, C2H2-type	12875	protein-coding gene	gene with protein product					NA		Standard		NM_015363	NA	Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.940A>G	19.37:g.57286700T>C	ENSP00000375589:p.Ile314Val	NA		37	CCDS33123.1	.	.	.	.	.	.	.	.	.	.	T	2.426	-0.331942	0.05314	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.04049	3.72;3.72	3.69	-1.2	0.09554	.	.	.	.	.	T	0.02649	0.0080	N	0.12182	0.205	.	.	.	B	0.09022	0.002	B	0.04013	0.001	T	0.39210	-0.9625	8	0.72032	D	0.01	.	4.196	0.10443	0.0:0.4099:0.2051:0.385	.	314	Q9NZV7	ZIM2_HUMAN	V	314	ENSP00000375589:I314V;ENSP00000221722:I314V	ENSP00000221722:I314V	I	-	1	0	ZIM2	61978512	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.818000	0.04467	-0.301000	0.08882	0.533000	0.62120	ATA	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416094.2		-	ENST00000391708.3	Missense_Mutation	SNP	19 : 57286700 - 57286700 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	421	18
TUBB1	81027	broad.mit.edu	37	20	57598802	57598802	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57598802C>T	ENST00000217133.1	+	4	589	c.320C>T	c.(319-321)aCg>aTg	p.T107M		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	107					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GGCCACTACACGGAGGGAGCC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	88	85			NA	NA	20		NA											NA				57598802		2203	4300	6503	SO:0001583	missense			AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162	81027	81027		Tubulins	16257	protein-coding gene	gene with protein product	class VI beta-tubulin	612901	tubulin, beta 1		NA		Standard	NM_030773	NM_030773	NA	Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.320C>T	20.37:g.57598802C>T	ENSP00000217133:p.Thr107Met	NA		37	CCDS13475.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529552	0.64860	.	.	ENSG00000101162	ENST00000217133	T	0.70282	-0.47	5.39	5.39	0.77823	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.91379	0.7280	H	0.99225	4.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94935	0.8086	10	0.87932	D	0	.	18.1144	0.89546	0.0:1.0:0.0:0.0	.	107	Q9H4B7	TBB1_HUMAN	M	107	ENSP00000217133:T107M	ENSP00000217133:T107M	T	+	2	0	TUBB1	57032197	1.000000	0.71417	0.961000	0.40146	0.364000	0.29643	7.784000	0.85713	2.537000	0.85549	0.655000	0.94253	ACG	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079903.1		+	ENST00000217133.1	Missense_Mutation	SNP	20 : 57598802 - 57598802 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	676	154
STRADB	55437	broad.mit.edu	37	2	202339474	202339474	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202339474C>T	ENST00000194530.3	+	6	785	c.420C>T	c.(418-420)gcC>gcT	p.A140A	STRADB_ENST00000392249.2_Silent_p.A140A	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	140	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						CATTTATGGCCTATGGTAAGA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	85	85			NA	NA	2		NA											NA				202339474		2203	4300	6503	SO:0001819	synonymous_variant			AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146	55437	55437			13205	protein-coding gene	gene with protein product		607333	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2	ALS2CR2	NA	11161814, 14511394	Standard	NM_018571	NM_018571	NA	Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.420C>T	2.37:g.202339474C>T		NA	Q5BKY7|Q9P1L0	37	CCDS2348.1																																																																																			STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256297.1		+	ENST00000194530.3	Silent	SNP	2 : 202339474 - 202339474 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	486	121
ZNF347	84671	broad.mit.edu	37	19	53645099	53645099	+	Nonsense_Mutation	SNP	G	G	A	rs146144984		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53645099G>A	ENST00000452676.2	-	5	1411	c.985C>T	c.(985-987)Cga>Tga	p.R329*	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Nonsense_Mutation_p.R328*|ZNF347_ENST00000601469.2_Nonsense_Mutation_p.R329*	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	328					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TGTGAATTTCGACTAAAGACC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(64;205 1597 17324 45721)							NA				0								G	stop/ARG,stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	136	128	131		985,985,982	-5.3	0	19	dbSNP_134	131	0,8600		0,0,4300	no	stop-gained,stop-gained,stop-gained	ZNF347	NM_001172674.1,NM_001172675.1,NM_032584.2	,,	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	,,	329/841,329/841,328/840	53645099	1,13005	2203	4300	6503	SO:0001587	stop_gained			AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937	84671	84671		Zinc fingers, C2H2-type, -	16447	protein-coding gene	gene with protein product					NA		Standard	NM_032584	NM_032584	NA	Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000452676.2:c.985C>T	19.37:g.53645099G>A	ENSP00000405218:p.Arg329*	NA	B9EG59|Q8TCN1	37	CCDS54314.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997065	0.54147	2.27E-4	0.0	ENSG00000197937	ENST00000334197;ENST00000452676;ENST00000436933	.	.	.	2.65	-5.29	0.02747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	2.5002	0.04631	0.102:0.1464:0.3053:0.4463	.	.	.	.	X	328;329;2	.	ENSP00000334146:R328X	R	-	1	2	ZNF347	58336911	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.256000	0.01181	-1.398000	0.02066	-0.428000	0.05917	CGA	ZNF347-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464172.2		-	ENST00000452676.2	Nonsense_Mutation	SNP	19 : 53645099 - 53645099 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	637	133
SEC24C	9632	broad.mit.edu	37	10	75520113	75520113	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75520113G>A	ENST00000339365.2	+	6	981	c.819G>A	c.(817-819)ccG>ccA	p.P273P	SEC24C_ENST00000411652.2_Silent_p.P131P|SEC24C_ENST00000546025.1_Silent_p.P131P|SEC24C_ENST00000345254.4_Silent_p.P273P|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	273					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TGCACTCCCCGCAGCAGCCAG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	61	59			NA	NA	10		NA											NA				75520113		2203	4300	6503	SO:0001819	synonymous_variant			D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986	9632	9632			10705	protein-coding gene	gene with protein product		607185	SEC24 (S. cerevisiae) related gene family, member C, SEC24 family, member C (S. cerevisiae)		NA	10214955, 7584044	Standard		NM_004922	NA	Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.819G>A	10.37:g.75520113G>A		NA	Q8WV25	37	CCDS7332.1																																																																																			SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048679.1		+	ENST00000339365.2	Silent	SNP	10 : 75520113 - 75520113 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	598	102
SLC47A2	146802	broad.mit.edu	37	17	19618448	19618448	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19618448G>A	ENST00000350657.5	-	2	380	c.206C>T	c.(205-207)tCg>tTg	p.S69L	SLC47A2_ENST00000325411.5_Missense_Mutation_p.S69L|SLC47A2_ENST00000463318.1_5'UTR	NM_001099646.1|NM_001256663.1	NP_001093116.1|NP_001243592.1	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	69						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					GAGGGTCACCGATGCCAGCTC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	79	79			NA	NA	17		NA											NA				19618448		2203	4300	6503	SO:0001583	missense			AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638	146802	146802		Solute carriers	26439	protein-coding gene	gene with protein product	multidrug and toxin extrusion 2	609833			NA	16996621, 16807400	Standard	NM_152908	NM_152908	NA	Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000350657.5:c.206C>T	17.37:g.19618448G>A	ENSP00000338084:p.Ser69Leu	NA	A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	37	CCDS58530.1	.	.	.	.	.	.	.	.	.	.	G	9.522	1.108446	0.20714	.	.	ENSG00000180638	ENST00000350657;ENST00000325411;ENST00000456947;ENST00000433844	T;T;T	0.31510	1.49;1.49;1.49	4.55	4.55	0.56014	.	0.508910	0.17472	U	0.173074	T	0.49081	0.1536	M	0.87547	2.89	0.09310	N	1	P;P;B	0.50528	0.936;0.936;0.41	P;P;B	0.48334	0.574;0.574;0.147	T	0.53585	-0.8418	10	0.87932	D	0	-7.3266	15.1595	0.72771	0.0:0.0:1.0:0.0	.	69;69;69	Q86VL8-3;Q86VL8-4;Q86VL8	.;.;S47A2_HUMAN	L	69;69;20;69	ENSP00000338084:S69L;ENSP00000326671:S69L;ENSP00000391848:S69L	ENSP00000326671:S69L	S	-	2	0	SLC47A2	19559040	0.107000	0.21998	0.004000	0.12327	0.274000	0.26718	3.066000	0.50002	2.252000	0.74401	0.305000	0.20034	TCG	SLC47A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132241.4		-	ENST00000350657.5	Missense_Mutation	SNP	17 : 19618448 - 19618448 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	589	104
WASF2	10163	broad.mit.edu	37	1	27741358	27741358	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27741358C>T	ENST00000430629.2	-	6	852	c.637G>A	c.(637-639)Gtg>Atg	p.V213M	WASF2_ENST00000536657.1_Missense_Mutation_p.V213M	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	213					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TTGGACTCCACAAATTCTTGC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													272	246	255			NA	NA	1		NA											NA				27741358		2203	4300	6503	SO:0001583	missense			AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195	10163	10163			12733	protein-coding gene	gene with protein product		605875			NA	10381382	Standard	NM_006990	NM_006990	NA	Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.637G>A	1.37:g.27741358C>T	ENSP00000396211:p.Val213Met	NA	O60794|Q9UDY7	37	CCDS304.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407806	0.42715	.	.	ENSG00000158195	ENST00000430629;ENST00000536657	T;T	0.43688	0.94;0.94	5.3	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.45276	0.1334	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	1.0;0.959	D;B	0.79784	0.993;0.437	T	0.44922	-0.9296	10	0.40728	T	0.16	-7.0889	12.7663	0.57393	0.0:0.9206:0.0:0.0793	.	213;213	B4DZN0;Q9Y6W5	.;WASF2_HUMAN	M	213	ENSP00000396211:V213M;ENSP00000439883:V213M	ENSP00000396211:V213M	V	-	1	0	WASF2	27613945	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.608000	0.67654	1.484000	0.48361	0.491000	0.48974	GTG	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000009516.1		-	ENST00000430629.2	Missense_Mutation	SNP	1 : 27741358 - 27741358 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	714	39
TRNAU1AP	54952	broad.mit.edu	37	1	28891240	28891240	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28891240G>T	ENST00000373830.3	+	5	330	c.304G>T	c.(304-306)Gac>Tac	p.D102Y	TRNAU1AP_ENST00000495995.1_3'UTR	NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1	102	RRM 2.				selenocysteine incorporation	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						CTTTGTGGGGGACCTGACCCC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	152	156			NA	NA	1		NA											NA				28891240		2203	4300	6503	SO:0001583	missense				CCDS324.1	1p35.3	2013-02-12	2008-09-05	2008-09-05	ENSG00000180098	ENSG00000180098	54952	54952		RNA binding motif (RRM) containing	30813	protein-coding gene	gene with protein product			tRNA selenocysteine associated protein 1	TRSPAP1	NA	10606267, 16230358	Standard	NM_017846	NM_017846	NA	Approved	SECP43, FLJ20503	uc001bqi.3	Q9NX07	OTTHUMG00000003653	ENST00000373830.3:c.304G>T	1.37:g.28891240G>T	ENSP00000362936:p.Asp102Tyr	NA	Q86SU7	37	CCDS324.1	.	.	.	.	.	.	.	.	.	.	G	31	5.085489	0.94100	.	.	ENSG00000180098	ENST00000373830	T	0.16457	2.34	5.93	5.93	0.95920	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.092822	0.64402	D	0.000001	T	0.39253	0.1071	L	0.60957	1.885	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	T	0.03684	-1.1013	10	0.87932	D	0	.	17.0453	0.86500	0.0:0.0:1.0:0.0	.	102	Q9NX07	TSAP1_HUMAN	Y	102	ENSP00000362936:D102Y	ENSP00000362936:D102Y	D	+	1	0	TRNAU1AP	28763827	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.383000	0.79741	2.814000	0.96858	0.655000	0.94253	GAC	TRNAU1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000010346.1		+	ENST00000373830.3	Missense_Mutation	SNP	1 : 28891240 - 28891240 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	571	53
SLC36A3	285641	broad.mit.edu	37	5	150672988	150672988	+	Missense_Mutation	SNP	G	G	A	rs150561602	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150672988G>A	ENST00000335230.3	-	4	752	c.341C>T	c.(340-342)gCc>gTc	p.A114V	SLC36A3_ENST00000377713.3_Missense_Mutation_p.A114V	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	114						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTACATCGTGGCCTCTCCATA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	77	83			NA	NA	5		NA											NA				150672988		2203	4300	6503	SO:0001583	missense			AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334	285641	285641		Solute carriers	19659	protein-coding gene	gene with protein product		608332			NA	12809675	Standard	NM_181774	NM_181774	NA	Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.341C>T	5.37:g.150672988G>A	ENSP00000334750:p.Ala114Val	NA	Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	37	CCDS4314.1	.	.	.	.	.	.	.	.	.	.	G	6.365	0.435412	0.12045	.	.	ENSG00000186334	ENST00000335230;ENST00000377713	T;T	0.04360	3.64;3.89	4.2	3.34	0.38264	.	0.227351	0.44285	D	0.000473	T	0.03348	0.0097	N	0.17278	0.47	0.34852	D	0.741785	B;B;B	0.17465	0.007;0.022;0.006	B;B;B	0.23419	0.017;0.046;0.041	T	0.32903	-0.9889	10	0.09843	T	0.71	-0.3054	12.057	0.53540	0.084:0.0:0.916:0.0	.	114;114;58	Q495N2-3;Q495N2;Q495N2-2	.;S36A3_HUMAN;.	V	114	ENSP00000334750:A114V;ENSP00000366942:A114V	ENSP00000334750:A114V	A	-	2	0	SLC36A3	150653181	0.998000	0.40836	0.908000	0.35775	0.608000	0.37181	4.935000	0.63498	1.004000	0.39156	0.585000	0.79938	GCC	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252436.1		-	ENST00000335230.3	Missense_Mutation	SNP	5 : 150672988 - 150672988 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	156	29
MOV10	4343	broad.mit.edu	37	1	113232719	113232719	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113232719C>T	ENST00000369644.1	+	6	1696	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C	MOV10_ENST00000369645.1_Splice_Site_p.R279C|MOV10_ENST00000357443.2_Splice_Site_p.R279C|MOV10_ENST00000413052.2_Splice_Site_p.R279C|MOV10_ENST00000468624.1_3'UTR			Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	279					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GAGACCTGACCGGTAACTCCT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	44	44			NA	NA	1		NA											NA				113232719		2203	4300	6503	SO:0001630	splice_region_variant			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363	4343	4343			7200	protein-coding gene	gene with protein product	functional spliceosome-associated protein 113	610742	Mov10 (Moloney leukemia virus 10, mouse) homolog, Mov10, Moloney leukemia virus 10, homolog (mouse)		NA	12226669	Standard	NM_020963	NM_001286072	NA	Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000369644.1:c.668+1C>T	1.37:g.113232719C>T		NA	Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	37		.	.	.	.	.	.	.	.	.	.	C	17.97	3.517779	0.64634	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000285733;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96	5.77	0.0455	0.14230	.	0.581408	0.19919	N	0.103134	D	0.87204	0.6119	L	0.61218	1.895	0.80722	D	1	P;D;P	0.76494	0.951;0.999;0.951	B;P;B	0.56343	0.326;0.796;0.326	T	0.82729	-0.0313	10	0.42905	T	0.14	-8.0E-4	0.619	0.00775	0.2068:0.3713:0.1398:0.2821	.	223;279;279	Q5JR04;Q9H8T8;Q9HCE1	.;.;MOV10_HUMAN	C	279;279;279;223;279;217	ENSP00000399797:R279C;ENSP00000358659:R279C;ENSP00000358658:R223C;ENSP00000350028:R279C	ENSP00000285733:R279C	R	+	1	0	MOV10	113034242	0.987000	0.35691	0.998000	0.56505	0.985000	0.73830	0.525000	0.22956	0.087000	0.17167	0.561000	0.74099	CGC	MOV10-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000032908.1	Missense_Mutation	+	ENST00000369644.1	Splice_Site	SNP	1 : 113232719 - 113232719 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	410	89
GIPC2	54810	broad.mit.edu	37	1	78546358	78546358	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78546358G>A	ENST00000370759.3	+	2	433		c.e2-1		GIPC2_ENST00000476882.1_Splice_Site	NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2	NA						cytoplasm				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						TTTCTTTGCAGATCTTATATT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	104	103			NA	NA	1		NA											NA				78546358		2203	4300	6503	SO:0001630	splice_region_variant			AB073737	CCDS685.1	1p31.1	2010-05-28			ENSG00000137960	ENSG00000137960	54810	54810			18177	protein-coding gene	gene with protein product	semaphorin cytoplasmic domain associated protein 2				NA	11836570	Standard	NM_017655	NM_017655	NA	Approved	FLJ20075, SEMCAP-2	uc001dik.3	Q8TF65	OTTHUMG00000041145	ENST00000370759.3:c.241-1G>A	1.37:g.78546358G>A		NA	Q8IYD3|Q9NXS7	37	CCDS685.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322948	0.81580	.	.	ENSG00000137960	ENST00000370759	.	.	.	6.02	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7102	0.69225	0.0687:0.0:0.9313:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GIPC2	78318946	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.857000	0.98124	0.650000	0.86243	.	GIPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000098629.1	Intron	+	ENST00000370759.3	Splice_Site	SNP	1 : 78546358 - 78546358 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	472	40
ANKK1	255239	broad.mit.edu	37	11	113269997	113269997	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113269997G>A	ENST00000303941.3	+	8	1400	c.1306G>A	c.(1306-1308)Gcc>Acc	p.A436T		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	436							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GCACTTTGCAGCCCAGAATGG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	26	25			NA	NA	11		NA											NA				113269997		2137	4235	6372	SO:0001583	missense			AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209	255239	255239		Ankyrin repeat domain containing	21027	protein-coding gene	gene with protein product		608774			NA	15146457	Standard	NM_178510	NM_178510	NA	Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.1306G>A	11.37:g.113269997G>A	ENSP00000306678:p.Ala436Thr	NA		37	CCDS44734.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357415	0.61293	.	.	ENSG00000170209	ENST00000303941	T	0.71817	-0.6	4.61	4.61	0.57282	Ankyrin repeat-containing domain (4);	0.000000	0.56097	D	0.000021	T	0.81880	0.4916	L	0.61387	1.9	0.48135	D	0.999594	D	0.76494	0.999	D	0.73708	0.981	D	0.84058	0.0373	10	0.72032	D	0.01	-20.5807	16.5983	0.84802	0.0:0.0:1.0:0.0	.	436	Q8NFD2	ANKK1_HUMAN	T	436	ENSP00000306678:A436T	ENSP00000306678:A436T	A	+	1	0	ANKK1	112775207	1.000000	0.71417	0.945000	0.38365	0.082000	0.17680	6.159000	0.71856	2.387000	0.81309	0.455000	0.32223	GCC	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395830.1		+	ENST00000303941.3	Missense_Mutation	SNP	11 : 113269997 - 113269997 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	72	15
LRSAM1	90678	broad.mit.edu	37	9	130251746	130251746	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130251746C>T	ENST00000323301.4	+	18	1975	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	LRSAM1_ENST00000300417.6_Silent_p.F457F|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_Silent_p.F457F|LRSAM1_ENST00000373324.4_Silent_p.F457F	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	457					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding	p.F457F(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						AGGCTGCGTTCGAGGCACTCC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	endometrium(1)											60	49	53			NA	NA	9		NA											NA				130251746		2203	4299	6502	SO:0001819	synonymous_variant			AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356	90678	90678		Sterile alpha motif (SAM) domain containing	25135	protein-coding gene	gene with protein product		610933			NA	12975309	Standard	NM_138361	NM_001005373	NA	Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.1371C>T	9.37:g.130251746C>T		NA	Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	37	CCDS6873.1																																																																																			LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054164.1		+	ENST00000323301.4	Silent	SNP	9 : 130251746 - 130251746 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	89	15
PCDH15	65217	broad.mit.edu	37	10	56128916	56128916	+	Silent	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:56128916A>T	ENST00000373965.2	-	5	832	c.438T>A	c.(436-438)acT>acA	p.T146T	PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000361849.3_Silent_p.T146T|PCDH15_ENST00000320301.6_Silent_p.T146T|PCDH15_ENST00000395430.1_Silent_p.T146T|PCDH15_ENST00000395433.1_Silent_p.T124T|PCDH15_ENST00000395432.2_Silent_p.T146T|PCDH15_ENST00000395438.1_Silent_p.T146T|PCDH15_ENST00000373955.1_Silent_p.T146T|PCDH15_ENST00000395445.1_Silent_p.T146T|PCDH15_ENST00000395440.1_Silent_p.T146T|PCDH15_ENST00000437009.1_Silent_p.T146T|PCDH15_ENST00000373957.3_Silent_p.T124T|PCDH15_ENST00000395442.1_Silent_p.T146T|PCDH15_ENST00000395446.1_Silent_p.T146T|PCDH15_ENST00000414778.1_Silent_p.T151T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	146	Cadherin 1.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CATGCTTGAAAGTGGGTGAGT	0.403		NA								HNSCC(58;0.16)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	127	140			NA	NA	10		NA											NA				56128916		2203	4300	6503	SO:0001819	synonymous_variant			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275	65217	65217		Cadherins / Cadherin-related	14674	protein-coding gene	gene with protein product	cadherin-related family member 15	605514	deafness, autosomal recessive 23, protocadherin 15	USH1F, DFNB23	NA	11398101, 14570705	Standard	NM_033056	NM_033056	NA	Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.438T>A	10.37:g.56128916A>T		NA	A6NL19|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	37																																																																																				PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000291336.1		-	ENST00000373965.2	Silent	SNP	10 : 56128916 - 56128916 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	291	54
RINT1	60561	broad.mit.edu	37	7	105189035	105189035	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:105189035G>T	ENST00000257700.2	+	7	1105	c.874G>T	c.(874-876)Gaa>Taa	p.E292*		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	292	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCAACTCCCAGAAAAATACTC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													191	165	173			NA	NA	7		NA											NA				105189035		2203	4300	6503	SO:0001587	stop_gained			AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249	60561	60561			21876	protein-coding gene	gene with protein product		610089			NA	11096100, 15029241	Standard	NM_021930	NM_021930	NA	Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.874G>T	7.37:g.105189035G>T	ENSP00000257700:p.Glu292*	NA	Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	37	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	G	40	8.171327	0.98688	.	.	ENSG00000135249	ENST00000257700	.	.	.	5.78	5.78	0.91487	.	0.401672	0.28252	N	0.016022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-11.3046	20.0098	0.97447	0.0:0.0:1.0:0.0	.	.	.	.	X	292	.	ENSP00000257700:E292X	E	+	1	0	RINT1	104976271	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.235000	0.78143	2.719000	0.93026	0.650000	0.86243	GAA	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348686.1		+	ENST00000257700.2	Nonsense_Mutation	SNP	7 : 105189035 - 105189035 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	741	127
ALX1	8092	broad.mit.edu	37	12	85695100	85695100	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:85695100C>A	ENST00000316824.3	+	4	983	c.828C>A	c.(826-828)ccC>ccA	p.P276P		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	276					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.P276P(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		GCCACGTGCCCCTCAACAATT	0.478		NA												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	109	110			NA	NA	12		NA											NA				85695100		2203	4299	6502	SO:0001819	synonymous_variant			U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318	8092	8092		Homeoboxes / PRD class	1494	protein-coding gene	gene with protein product		601527	cartilage paired-class homeoprotein 1	CART1	NA	8756334, 7592751	Standard	NM_006982	NM_006982	NA	Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.828C>A	12.37:g.85695100C>A		NA	Q546C8|Q96FH4	37	CCDS9028.1																																																																																			ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406072.1		+	ENST00000316824.3	Silent	SNP	12 : 85695100 - 85695100 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	598	48
XPO7	23039	broad.mit.edu	37	8	21844746	21844746	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21844746C>T	ENST00000252512.9	+	14	1772	c.1672C>T	c.(1672-1674)Cgt>Tgt	p.R558C	XPO7_ENST00000434536.1_Missense_Mutation_p.R567C|XPO7_ENST00000433566.4_Missense_Mutation_p.R559C	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	558					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TGAACAGTTTCGTAAGATCTA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	116	116			NA	NA	8		NA											NA				21844746		1914	4118	6032	SO:0001583	missense			AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227	23039	23039		Exportins	14108	protein-coding gene	gene with protein product		606140	RAN binding protein 16	RANBP16	NA	11024021, 9872452	Standard	NM_015024	NM_015024	NA	Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.1672C>T	8.37:g.21844746C>T	ENSP00000252512:p.Arg558Cys	NA	O94846|Q6PJK9|Q8NEK7	37	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.203070	0.58234	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.65178	-0.14;-0.14;-0.14	5.78	5.78	0.91487	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77003	0.4067	M	0.89214	3.015	0.80722	D	1	P;P;P	0.49358	0.877;0.923;0.923	B;P;P	0.53450	0.313;0.726;0.726	T	0.78201	-0.2296	10	0.38643	T	0.18	-8.456	14.4657	0.67482	0.1471:0.8529:0.0:0.0	.	559;567;558	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	C	567;558;559	ENSP00000404853:R567C;ENSP00000252512:R558C;ENSP00000410249:R559C	ENSP00000252512:R558C	R	+	1	0	XPO7	21900692	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.720000	0.54933	2.732000	0.93576	0.655000	0.94253	CGT	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375494.1		+	ENST00000252512.9	Missense_Mutation	SNP	8 : 21844746 - 21844746 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	540	91
ERVW-1	30816	broad.mit.edu	37	7	92098256	92098256	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92098256G>A	ENST00000493463.2	-	1	2363	c.1440C>T	c.(1438-1440)atC>atT	p.I480I	ERVW-1_ENST00000604270.1_5'UTR|ERVW-1_ENST00000603053.1_Silent_p.I480I|AC007566.10_ENST00000427458.1_RNA	NM_014590.3	NP_055405.3	Q9UQF0	ENW1_HUMAN	endogenous retrovirus group W, member 1	480	Essential for the fusiogenic function.				syncytium formation	integral to membrane|plasma membrane|virion				endometrium(1)|large_intestine(1)|lung(15)	17						ttacagcttcgattctggaag	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	31	31			NA	NA	7		NA											NA				92098256		2180	4252	6432	SO:0001819	synonymous_variant			AF208161	CCDS5626.1	7q21.2	2011-06-16	2011-05-05	2011-05-05	ENSG00000242950	ENSG00000242950	30816	30816			13525	other	endogenous retrovirus	envelope protein, HERV-W Env glycoprotein, enverin, syncytin-1, HERV-tryptophan envelope protein, HERV-W{7q21.1} provirus ancestral Env polyprotein, HERV-7q envelope protein, envelope glycoprotein, syncytin	604659	endogenous retroviral family W, env(C7), member 1	ERVWE1	NA	9835022, 9882319, 21542922	Standard	NM_014590	NM_001130925	NA	Approved	HERV-W, HERV-W-ENV, HERVW, HERV-7q	uc022ahe.1	Q9UQF0	OTTHUMG00000131249	ENST00000493463.2:c.1440C>T	7.37:g.92098256G>A		NA	B2RPD4|O95244|O95245|Q8NHY7|Q9NRZ2|Q9NZG3	37	CCDS5626.1																																																																																			ERVW-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254009.2		-	ENST00000493463.2	Silent	SNP	7 : 92098256 - 92098256 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	277	61
RSRC1	51319	broad.mit.edu	37	3	157823784	157823784	+	Translation_Start_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157823784C>A	ENST00000480820.1	+	0	141				SHOX2_ENST00000483851.2_Missense_Mutation_p.K10N|SHOX2_ENST00000389589.4_Missense_Mutation_p.K10N|SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000425436.3_Missense_Mutation_p.K10N|SHOX2_ENST00000441443.2_5'UTR			Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	NA					nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			GGTCAAAAGACTTGGAGACGA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	38	38			NA	NA	3		NA											NA				157823784		1930	4123	6053					AF208853	CCDS3181.1, CCDS63822.1	3q25.32	2009-09-09			ENSG00000174891	ENSG00000174891	51319	51319			24152	protein-coding gene	gene with protein product	splicing factor, arginine/serine-rich 21	613352			NA	15798186, 19065146	Standard	NM_016625	NM_001271838	NA	Approved	MGC12197, BM-011, SRrp53, SFRS21	uc003fbu.2	Q96IZ7	OTTHUMG00000158758	ENST00000480820.1:c.-18C>A	3.37:g.157823784C>A		NA	A8K2R9|Q96QK2|Q9NZE5	37	CCDS3181.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198165	0.79015	.	.	ENSG00000168779;ENSG00000168779;ENSG00000258518	ENST00000425436;ENST00000389589;ENST00000483851	D;D;D	0.97976	-4.64;-4.64;-4.64	3.99	3.99	0.46301	.	0.000000	0.64402	D	0.000004	D	0.97757	0.9264	L	0.39245	1.2	0.80722	D	1	B;D;D	0.89917	0.447;1.0;1.0	B;D;D	0.83275	0.075;0.996;0.987	D	0.98883	1.0770	10	0.66056	D	0.02	.	16.0873	0.81065	0.0:1.0:0.0:0.0	.	10;10;10	O60902-2;O60902-3;O60902	.;.;SHOX2_HUMAN	N	10	ENSP00000398704:K10N;ENSP00000374240:K10N;ENSP00000419362:K10N	ENSP00000374240:K10N	K	-	3	2	SHOX2;AC112502.1	159306478	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	0.458000	0.21892	1.938000	0.56188	0.561000	0.74099	AAG	RSRC1-007	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352156.1		+	ENST00000480820.1	De_novo_Start_OutOfFrame	SNP	3 : 157823784 - 157823784 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	291	72
KIAA0020	9933	broad.mit.edu	37	9	2811514	2811514	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2811514C>T	ENST00000397885.2	-	15	1688	c.1482G>A	c.(1480-1482)ctG>ctA	p.L494L		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	494	PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CGTGTTCTTGCAGGTAGCTTA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	143	148			NA	NA	9		NA											NA				2811514		2203	4300	6503	SO:0001819	synonymous_variant			AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608	9933	9933			29676	protein-coding gene	gene with protein product	penguin homolog (Drosophila), minor histocompatibility antigen HA-8	609960			NA	7584026, 7584028, 21266351	Standard	NM_014878	NM_014878	NA	Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.1482G>A	9.37:g.2811514C>T		NA	A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	37	CCDS6448.2																																																																																			KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051529.3		-	ENST00000397885.2	Silent	SNP	9 : 2811514 - 2811514 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	711	138
OR7E24	26648	broad.mit.edu	37	19	9362113	9362113	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9362113C>A	ENST00000456448.1	+	1	508	c.394C>A	c.(394-396)Ctc>Atc	p.L132I		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						GGATGACATGCTCCTGAGTGT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	126	125			NA	NA	19		NA											NA				9362113		2199	4300	6499	SO:0001583	missense			Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521	26648	26648		GPCR / Class A : Olfactory receptors	8396	protein-coding gene	gene with protein product			olfactory receptor, family 7, subfamily E, member 24 pseudogene	OR7E24P	NA	9268701	Standard		NM_001079935	NA	Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.394C>A	19.37:g.9362113C>A	ENSP00000387523:p.Leu132Ile	NA	B9EJD9|Q9UPJ1	37	CCDS45955.1	.	.	.	.	.	.	.	.	.	.	c	7.659	0.684572	0.14973	.	.	ENSG00000237521	ENST00000456448	T	0.06371	3.31	2.39	-1.88	0.07713	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.09555	0.0235	L	0.45051	1.395	0.09310	N	1	D	0.62365	0.991	P	0.52672	0.706	T	0.21280	-1.0250	9	0.62326	D	0.03	.	7.3681	0.26785	0.1775:0.4772:0.3453:0.0	.	132	Q6IFN5	O7E24_HUMAN	I	132	ENSP00000387523:L132I	ENSP00000387523:L132I	L	+	1	0	OR7E24	9223113	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.683000	0.01934	-0.433000	0.07286	-0.445000	0.05633	CTC	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449006.1		+	ENST00000456448.1	Missense_Mutation	SNP	19 : 9362113 - 9362113 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	312	58
CCDC129	223075	broad.mit.edu	37	7	31682385	31682385	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31682385C>T	ENST00000409210.1	+	9	1309	c.1125C>T	c.(1123-1125)gaC>gaT	p.D375D	CCDC129_ENST00000407970.3_Silent_p.D467D|CCDC129_ENST00000451887.2_Silent_p.D493D|CCDC129_ENST00000319386.3_Silent_p.D319D			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	467										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CATCCCAGGACTGTCAGCTAG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	84	84			NA	NA	7		NA											NA				31682385		2203	4300	6503	SO:0001819	synonymous_variant			AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347	223075	223075			27363	protein-coding gene	gene with protein product					NA	14702039	Standard	NM_194300	NM_001257967	NA	Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000409210.1:c.1125C>T	7.37:g.31682385C>T		NA	A2RU17|B3KTI9|B4E2R1	37																																																																																				CCDC129-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000328240.2		+	ENST00000409210.1	Silent	SNP	7 : 31682385 - 31682385 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	411	73
ZSCAN1	284312	broad.mit.edu	37	19	58551856	58551856	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58551856A>G	ENST00000282326.1	+	4	656	c.409A>G	c.(409-411)Agt>Ggt	p.S137G		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	137					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCAGGACTGGAGTTTCGGTGA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	123	120			NA	NA	19		NA											NA				58551856		2203	4300	6503	SO:0001583	missense			AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467	284312	284312		-, Zinc fingers, C2H2-type	23712	protein-coding gene	gene with protein product			zinc finger with SCAN domain 1		NA	12477932	Standard	NM_182572	NM_182572	NA	Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.409A>G	19.37:g.58551856A>G	ENSP00000282326:p.Ser137Gly	NA	Q3B798|Q6WLH8|Q86WS8	37	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	A	1.299	-0.605295	0.03717	.	.	ENSG00000152467	ENST00000282326	T	0.04360	3.64	1.09	-0.0961	0.13638	Transcription regulator SCAN (1);	.	.	.	.	T	0.02970	0.0088	N	0.19112	0.55	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.44483	-0.9325	9	0.39692	T	0.17	.	3.2733	0.06889	0.7278:0.0:0.2722:0.0	.	137	Q8NBB4	ZSCA1_HUMAN	G	137	ENSP00000282326:S137G	ENSP00000282326:S137G	S	+	1	0	ZSCAN1	63243668	0.005000	0.15991	0.061000	0.19648	0.948000	0.59901	0.294000	0.19047	-0.098000	0.12285	0.260000	0.18958	AGT	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466427.1		+	ENST00000282326.1	Missense_Mutation	SNP	19 : 58551856 - 58551856 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1154	84
BRF1	2972	broad.mit.edu	37	14	105695248	105695248	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105695248G>T	ENST00000546474.1	-	7	15656	c.697C>A	c.(697-699)Ctc>Atc	p.L233I	BRF1_ENST00000446501.2_5'UTR|BRF1_ENST00000379937.2_Missense_Mutation_p.L206I|BRF1_ENST00000440513.3_Missense_Mutation_p.L118I|BRF1_ENST00000327359.3_Missense_Mutation_p.L118I|BRF1_ENST00000392557.4_Missense_Mutation_p.L29I|BRF1_ENST00000551787.1_Missense_Mutation_p.L29I|BRF1_ENST00000379932.4_Missense_Mutation_p.L29I	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	233					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GCAACCAGGAGCGCTGGAAGG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													242	216	225			NA	NA	14		NA											NA				105695248		2203	4300	6503	SO:0001583	missense			U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024	2972	2972		General transcription factors	11551	protein-coding gene	gene with protein product		604902	TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2, BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)	TAF3B2, TAF3C, GTF3B	NA	7624363, 8943358	Standard	NM_001519	NM_145685	NA	Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.697C>A	14.37:g.105695248G>T	ENSP00000448323:p.Leu233Ile	NA	Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q9HCW6|Q9HCW7|Q9HCW8	37	CCDS10001.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.49|15.49	2.848046|2.848046	0.51164|0.51164	.|.	.|.	ENSG00000185024|ENSG00000185024	ENST00000546417|ENST00000392557;ENST00000379937;ENST00000546474;ENST00000551787;ENST00000379932;ENST00000332890;ENST00000327359;ENST00000440513;ENST00000549655;ENST00000552127;ENST00000550208	.|.	.|.	.|.	5.15|5.15	5.15|5.15	0.70609|0.70609	.|Transcription factor TFIIB, cyclin-related (1);Cyclin-like (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76765|0.76765	0.4033|0.4033	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.985;0.999;0.999	.|D;D;D	.|0.79108	.|0.946;0.99;0.992	T|T	0.79095|0.79095	-0.1944|-0.1944	6|9	0.87932|0.72032	D|D	0|0.01	.|.	16.143|16.143	0.81539|0.81539	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|118;206;233	.|F5H5Z7;Q92994-5;Q92994	.|.;.;TF3B_HUMAN	D|I	86|29;206;233;29;29;29;118;118;29;29;29	.|.	ENSP00000450258:A86D|ENSP00000329029:L118I	A|L	-|-	2|1	0|0	BRF1|BRF1	104766293|104766293	1.000000|1.000000	0.71417|0.71417	0.843000|0.843000	0.33291|0.33291	0.004000|0.004000	0.04260|0.04260	8.878000|8.878000	0.92393|0.92393	2.397000|2.397000	0.81536|0.81536	0.591000|0.591000	0.81541|0.81541	GCT|CTC	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000074548.4		-	ENST00000546474.1	Missense_Mutation	SNP	14 : 105695248 - 105695248 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1480	309
C12orf49	79794	broad.mit.edu	37	12	117155658	117155658	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117155658T>G	ENST00000261318.3	-	5	735	c.575A>C	c.(574-576)aAg>aCg	p.K192T	C12orf49_ENST00000536380.1_Missense_Mutation_p.K162T|C12orf49_ENST00000548356.1_Missense_Mutation_p.K33T	NM_024738.1	NP_079014.1	Q9H741	CL049_HUMAN	chromosome 12 open reading frame 49	192						extracellular region				endometrium(1)|lung(1)|ovary(1)|skin(1)	4	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0281)		ATAGCAATACTTTGCTATGGG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	44	47			NA	NA	12		NA											NA				117155658		2203	4299	6502	SO:0001583	missense			AK025068	CCDS9179.1	12q24.22	2012-05-30			ENSG00000111412	ENSG00000111412	79794	79794			26128	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024738	NM_024738	NA	Approved	FLJ21415	uc001tvz.1	Q9H741	OTTHUMG00000169392	ENST00000261318.3:c.575A>C	12.37:g.117155658T>G	ENSP00000261318:p.Lys192Thr	NA	Q53GE8	37	CCDS9179.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.6|27.6	4.848629|4.848629	0.91277|0.91277	.|.	.|.	ENSG00000111412|ENSG00000111412	ENST00000261318;ENST00000548356;ENST00000536380|ENST00000547606	T|.	0.54675|.	0.56|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79203|0.79203	0.4406|0.4406	M|M	0.86268|0.86268	2.805|2.805	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.81944|0.81944	-0.0701|-0.0701	10|5	0.72032|.	D|.	0.01|.	-40.1457|-40.1457	15.6027|15.6027	0.76636|0.76636	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	162;192|.	F5H6Y2;Q9H741|.	.;CL049_HUMAN|.	T|R	192;33;162|30	ENSP00000261318:K192T|.	ENSP00000261318:K192T|.	K|S	-|-	2|1	0|0	C12orf49|C12orf49	115640041|115640041	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.850000|0.850000	0.48378|0.48378	7.884000|7.884000	0.87274|0.87274	2.080000|2.080000	0.62538|0.62538	0.533000|0.533000	0.62120|0.62120	AAG|AGT	C12orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403847.1		-	ENST00000261318.3	Missense_Mutation	SNP	12 : 117155658 - 117155658 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	88	15
ZNF219	51222	broad.mit.edu	37	14	21561402	21561402	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21561402C>T	ENST00000360947.3	-	3	465	c.54G>A	c.(52-54)ccG>ccA	p.P18P	ZNF219_ENST00000421093.2_Silent_p.P18P|ZNF219_ENST00000451119.2_Silent_p.P18P	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	18					negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CGTCGAAAGCCGGCGGCGACG	0.647		NA									OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	12	12			NA	NA	14		NA											NA				21561402		2158	4218	6376	SO:0001819	synonymous_variant			AB015427	CCDS9568.1	14q11	2013-01-08			ENSG00000165804	ENSG00000165804	NA	51222		Zinc fingers, C2H2-type	13011	protein-coding gene	gene with protein product		605036			NA	10819330	Standard		NM_016423	NA	Approved		uc001vzs.2	Q9P2Y4	OTTHUMG00000029647	ENST00000360947.3:c.54G>A	14.37:g.21561402C>T		749	D3DS16|Q8IYC1|Q9BW28	37	CCDS9568.1																																																																																			ZNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000073931.2		-	ENST00000360947.3	Silent	SNP	14 : 21561402 - 21561402 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	157	35
PPP1R13B	23368	broad.mit.edu	37	14	104206599	104206599	+	Silent	SNP	G	G	A	rs149001440	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:104206599G>A	ENST00000202556.9	-	12	2436	c.2154C>T	c.(2152-2154)ggC>ggT	p.G718G	PPP1R13B_ENST00000423488.2_Silent_p.G137G|PPP1R13B_ENST00000555391.1_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	718	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TGTTGGGCCCGCCGGGGCCCT	0.667		NA											G	23	0.01	0.04	0.01	2184	NA	0.9994	,	,	NA	3e-04	NA	NA	NA	0.0108	0.9774	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0								G		117,3739		1,115,1812	40	48	45		2154	-7.4	0.1	14	dbSNP_134	45	2,8218		0,2,4108	no	coding-synonymous	PPP1R13B	NM_015316.2		1,117,5920	AA,AG,GG	NA	0.0243,3.0342,0.9854		718/1091	104206599	119,11957	1928	4110	6038	SO:0001819	synonymous_variant			AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808	23368	23368		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Ankyrin repeat domain containing	14950	protein-coding gene	gene with protein product		606455	protein phosphatase 1, regulatory (inhibitor) subunit 13B		NA	9872452	Standard	NM_015316	NM_015316	NA	Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.2154C>T	14.37:g.104206599G>A		NA	B2RMX5|O94870	37	CCDS41997.1																																																																																			PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414591.1		-	ENST00000202556.9	Silent	SNP	14 : 104206599 - 104206599 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	534	115
HERC2	8924	broad.mit.edu	37	15	28514426	28514426	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28514426C>T	ENST00000261609.7	-	11	1522	c.1414G>A	c.(1414-1416)Gtg>Atg	p.V472M		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	472					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGTGTGTACACGCGGCCATTG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	67	74			NA	NA	15		NA											NA				28514426		2203	4300	6503	SO:0001583	missense			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731	8924	8924			4868	protein-coding gene	gene with protein product		605837	hect domain and RLD 2		NA	9949213	Standard	NM_004667	NM_004667	NA	Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.1414G>A	15.37:g.28514426C>T	ENSP00000261609:p.Val472Met	NA	Q86SV7|Q86SV8|Q86SV9|Q86YY3|Q86YY4|Q86YY5|Q86YY6|Q86YY7|Q86YY8|Q86YY9|Q86YZ0|Q86YZ1	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.272161	0.40194	.	.	ENSG00000128731	ENST00000261609	D	0.85171	-1.95	5.74	5.74	0.90152	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.065567	0.64402	D	0.000013	T	0.80874	0.4707	L	0.59912	1.85	0.51482	D	0.999924	P	0.47910	0.902	B	0.33521	0.165	D	0.84544	0.0640	10	0.87932	D	0	.	15.4685	0.75422	0.0:0.862:0.138:0.0	.	472	O95714	HERC2_HUMAN	M	472	ENSP00000261609:V472M	ENSP00000261609:V472M	V	-	1	0	HERC2	26188021	1.000000	0.71417	0.918000	0.36340	0.065000	0.16274	5.492000	0.66893	2.718000	0.92993	0.650000	0.86243	GTG	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251358.2		-	ENST00000261609.7	Missense_Mutation	SNP	15 : 28514426 - 28514426 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	144	18
OVCH1	341350	broad.mit.edu	37	12	29624906	29624906	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29624906C>T	ENST00000318184.5	-	16	1684	c.1685G>A	c.(1684-1686)gGc>gAc	p.G562D	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	562					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TGGAGGGATGCCACAGACATC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	46	46			NA	NA	12		NA											NA				29624906		1927	4121	6048	SO:0001583	missense			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950	341350	341350			23080	protein-coding gene	gene with protein product					NA	12838346	Standard	NM_183378	NM_183378	NA	Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1685G>A	12.37:g.29624906C>T	ENSP00000326708:p.Gly562Asp	NA		37		.	.	.	.	.	.	.	.	.	.	C	16.96	3.266707	0.59540	.	.	ENSG00000187950	ENST00000318184	T	0.67523	-0.27	2.16	2.16	0.27623	Peptidase cysteine/serine, trypsin-like (1);	.	.	.	.	T	0.62780	0.2456	N	0.08118	0	0.36513	D	0.869735	D	0.89917	1.0	D	0.69654	0.965	T	0.72663	-0.4225	9	0.87932	D	0	.	11.8871	0.52608	0.0:1.0:0.0:0.0	.	562	Q7RTY7	OVCH1_HUMAN	D	562	ENSP00000326708:G562D	ENSP00000326708:G562D	G	-	2	0	OVCH1	29516173	0.994000	0.37717	0.401000	0.26359	0.922000	0.55478	3.254000	0.51477	1.520000	0.48965	0.650000	0.86243	GGC	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000395997.2		-	ENST00000318184.5	Missense_Mutation	SNP	12 : 29624906 - 29624906 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	143	11
PARP1	142	broad.mit.edu	37	1	226553752	226553752	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226553752A>G	ENST00000366794.5	-	18	2551	c.2408T>C	c.(2407-2409)gTg>gCg	p.V803A	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	803	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TCTGTCAACCACCTGGATAAA	0.453		NA						Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	81	87			NA	NA	1		NA											NA				226553752		2203	4300	6503	SO:0001630	splice_region_variant			BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	142	142	2.4.2.30	Poly (ADP-ribose) polymerases	270	protein-coding gene	gene with protein product		173870	ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase), poly (ADP-ribose) polymerase family, member 1	PPOL, ADPRT	NA	10964595	Standard	NM_001618	NM_001618	NA	Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.2407-1T>C	1.37:g.226553752A>G		NA	B1ANJ4|Q8IUZ9	37	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	A	17.16	3.319665	0.60524	.	.	ENSG00000143799	ENST00000366794	T	0.13089	2.62	5.68	5.68	0.88126	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.14700	0.0355	L	0.43923	1.385	0.80722	D	1	P	0.39022	0.655	B	0.38327	0.271	T	0.04870	-1.0921	10	0.27082	T	0.32	.	15.9357	0.79704	1.0:0.0:0.0:0.0	.	803	P09874	PARP1_HUMAN	A	803	ENSP00000355759:V803A	ENSP00000355759:V803A	V	-	2	0	PARP1	224620375	1.000000	0.71417	1.000000	0.80357	0.440000	0.31957	8.253000	0.89842	2.177000	0.69029	0.528000	0.53228	GTG	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091519.1	Missense_Mutation	-	ENST00000366794.5	Splice_Site	SNP	1 : 226553752 - 226553752 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	247	55
ANKS3	124401	broad.mit.edu	37	16	4755101	4755101	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4755101C>T	ENST00000304283.4	-	8	1157	c.863G>A	c.(862-864)cGc>cAc	p.R288H	ANKS3_ENST00000446014.2_Missense_Mutation_p.R159H|ANKS3_ENST00000585773.1_Missense_Mutation_p.R215H|ANKS3_ENST00000450067.2_Missense_Mutation_p.R82H	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	288										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						CTCACCATAGCGAGGCCGTGG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG,HIS/ARG	1,4391	2.1+/-5.4	0,1,2195	71	76	74		542,863	1.7	0	16		74	0,8598		0,0,4299	no	missense,missense	ANKS3	NM_001242929.1,NM_133450.3	29,29	0,1,6494	TT,TC,CC	NA	0.0,0.0228,0.0077	benign,benign	181/550,288/657	4755101	1,12989	2196	4299	6495	SO:0001583	missense			AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096	124401	124401		Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	29422	protein-coding gene	gene with protein product					NA	11853319	Standard	NM_133450	NM_133450	NA	Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.863G>A	16.37:g.4755101C>T	ENSP00000304586:p.Arg288His	NA	B4DWU4|D3DUE2|Q8TF25	37	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992886	0.35131	2.28E-4	0.0	ENSG00000168096	ENST00000304283;ENST00000446014;ENST00000450067	T;T;T	0.45668	1.36;3.11;0.89	5.94	1.73	0.24493	.	1.311960	0.04445	N	0.371542	T	0.35624	0.0938	L	0.40543	1.245	0.09310	N	1	B;B	0.21753	0.06;0.003	B;B	0.12837	0.008;0.0	T	0.25537	-1.0129	10	0.45353	T	0.12	-2.6572	7.2688	0.26244	0.0:0.6024:0.2561:0.1414	.	82;288	Q6ZWA7;Q6ZW76	.;ANKS3_HUMAN	H	288;159;82	ENSP00000304586:R288H;ENSP00000406796:R159H;ENSP00000388270:R82H	ENSP00000304586:R288H	R	-	2	0	ANKS3	4695102	0.004000	0.15560	0.000000	0.03702	0.096000	0.18686	0.356000	0.20181	0.103000	0.17682	0.563000	0.77884	CGC	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251642.3		-	ENST00000304283.4	Missense_Mutation	SNP	16 : 4755101 - 4755101 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	967	70
WAC	51322	broad.mit.edu	37	10	28878735	28878735	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28878735G>A	ENST00000375664.4	+	5	926	c.317G>A	c.(316-318)cGa>cAa	p.R106Q	WAC_ENST00000428935.1_Missense_Mutation_p.R106Q|WAC_ENST00000354911.4_Missense_Mutation_p.R151Q|WAC_ENST00000375646.1_Missense_Mutation_p.R106Q|WAC_ENST00000347934.4_Missense_Mutation_p.R151Q			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	NA					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TACAATTGTCGAACAGAAGTT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	92	89			NA	NA	10		NA											NA				28878735		2203	4300	6503	SO:0001583	missense			AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787	51322	51322			17327	protein-coding gene	gene with protein product		615049	WW domain-containing adaptor with coiled coil		NA	11827461	Standard	NM_100264	NR_024557	NA	Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000375664.4:c.317G>A	10.37:g.28878735G>A	ENSP00000364816:p.Arg106Gln	NA	A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	37		.	.	.	.	.	.	.	.	.	.	G	32	5.167989	0.94768	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911;ENST00000428935;ENST00000420266;ENST00000424454;ENST00000538000;ENST00000442148;ENST00000414108	D;D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.24	4.33	0.51752	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	T	0.73393	0.3581	N	0.17312	0.475	0.80722	D	1	B;P;P	0.42584	0.274;0.784;0.515	B;B;B	0.40444	0.036;0.329;0.06	T	0.75513	-0.3291	10	0.45353	T	0.12	-5.4856	16.1738	0.81836	0.0:0.1336:0.8664:0.0	.	106;151;151	Q9BTA9-2;Q9BTA9-5;Q9BTA9	.;.;WAC_HUMAN	Q	106;106;151;151;106;106;106;106;106;106	ENSP00000364816:R106Q;ENSP00000364797:R106Q;ENSP00000311106:R151Q;ENSP00000346986:R151Q;ENSP00000399706:R106Q;ENSP00000404758:R106Q;ENSP00000400848:R106Q;ENSP00000415645:R106Q	ENSP00000311106:R151Q	R	+	2	0	WAC	28918741	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.567000	0.98161	1.315000	0.45114	0.563000	0.77884	CGA	WAC-016	KNOWN	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000047370.2		+	ENST00000375664.4	Missense_Mutation	SNP	10 : 28878735 - 28878735 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	511	97
LAMB4	22798	broad.mit.edu	37	7	107677867	107677867	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107677867C>T	ENST00000388781.3	-	30	4728	c.4645G>A	c.(4645-4647)Gcc>Acc	p.A1549T	LAMB4_ENST00000483484.1_5'UTR|LAMB4_ENST00000205386.4_Missense_Mutation_p.A1549T|LAMB4_ENST00000388780.3_Missense_Mutation_p.A1549T	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1549	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AGCTTTTGGGCTCCATCTGCT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													220	220	220			NA	NA	7		NA											NA				107677867		2203	4300	6503	SO:0001583	missense			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128	22798	22798		Laminins	6491	protein-coding gene	gene with protein product					NA		Standard	XM_209857	NM_007356	NA	Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.4645G>A	7.37:g.107677867C>T	ENSP00000373433:p.Ala1549Thr	NA	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	37	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204673	0.58234	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.38401	1.14;1.14;1.46;1.18	4.89	3.01	0.34805	.	0.437967	0.18968	N	0.126218	T	0.34600	0.0903	L	0.39898	1.24	0.53688	D	0.99997	P;B	0.43788	0.817;0.005	P;B	0.47864	0.559;0.006	T	0.06698	-1.0812	10	0.54805	T	0.06	.	7.4753	0.27371	0.0:0.7801:0.0:0.2199	.	1549;1549	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	T	1549;1549;575;1549	ENSP00000205386:A1549T;ENSP00000373433:A1549T;ENSP00000416562:A575T;ENSP00000373432:A1549T	ENSP00000205386:A1549T	A	-	1	0	LAMB4	107465103	0.014000	0.17966	0.430000	0.26722	0.739000	0.42172	0.892000	0.28322	0.685000	0.31468	-0.136000	0.14681	GCC	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337442.1		-	ENST00000388781.3	Missense_Mutation	SNP	7 : 107677867 - 107677867 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1138	174
SRMS	6725	broad.mit.edu	37	20	62178609	62178609	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62178609G>T	ENST00000217188.1	-	1	248	c.208C>A	c.(208-210)Ctg>Atg	p.L70M		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	70	SH3.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CGGACACTCAGCTCCCCGCCA	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	116	115			NA	NA	20		NA											NA				62178609		2191	4271	6462	SO:0001583	missense				CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508	6725	6725		SH2 domain containing	11298	protein-coding gene	gene with protein product			chromosome 20 open reading frame 148	C20orf148	NA	7935409	Standard	NM_080823	NM_080823	NA	Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.208C>A	20.37:g.62178609G>T	ENSP00000217188:p.Leu70Met	NA		37	CCDS13525.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634775	0.47049	.	.	ENSG00000125508	ENST00000217188	T	0.70045	-0.45	4.09	2.04	0.26737	Src homology-3 domain (3);	0.000000	0.42053	D	0.000765	D	0.82287	0.5004	M	0.89840	3.065	0.36135	D	0.846384	D	0.89917	1.0	D	0.97110	1.0	D	0.86246	0.1646	10	0.87932	D	0	.	10.1426	0.42744	0.1726:0.0:0.8274:0.0	.	70	Q9H3Y6	SRMS_HUMAN	M	70	ENSP00000217188:L70M	ENSP00000217188:L70M	L	-	1	2	SRMS	61649053	1.000000	0.71417	0.918000	0.36340	0.103000	0.19146	4.716000	0.61916	0.678000	0.31325	0.491000	0.48974	CTG	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080148.1		-	ENST00000217188.1	Missense_Mutation	SNP	20 : 62178609 - 62178609 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	124	27
G6PC3	92579	broad.mit.edu	37	17	42153230	42153230	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42153230T>G	ENST00000269097.4	+	6	1091	c.860T>G	c.(859-861)cTt>cGt	p.L287R		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	287					gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		ATAGCCTGCCTTGTGCTGGCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	61	62			NA	NA	17		NA											NA				42153230		2203	4300	6503	SO:0001583	missense			BC021574	CCDS11476.1	17q21.31	2014-09-17				ENSG00000141349	92579	92579			24861	protein-coding gene	gene with protein product		611045			NA	12370122, 12965222	Standard	NM_138387	NM_138387	NA	Approved	UGRP	uc002iex.3	Q9BUM1		ENST00000269097.4:c.860T>G	17.37:g.42153230T>G	ENSP00000269097:p.Leu287Arg	NA	Q8WU15	37	CCDS11476.1	.	.	.	.	.	.	.	.	.	.	T	14.88	2.668251	0.47677	.	.	ENSG00000141349	ENST00000269097	T	0.79454	-1.27	5.18	5.18	0.71444	.	0.411941	0.23644	N	0.045981	T	0.66538	0.2799	L	0.39898	1.24	0.09310	N	0.999999	P	0.37955	0.612	B	0.34722	0.188	T	0.64888	-0.6301	10	0.66056	D	0.02	-35.6274	7.593	0.28031	0.0:0.0926:0.0:0.9074	.	287	Q9BUM1	G6PC3_HUMAN	R	287	ENSP00000269097:L287R	ENSP00000269097:L287R	L	+	2	0	G6PC3	39508756	0.992000	0.36948	0.417000	0.26559	0.684000	0.39900	4.629000	0.61290	2.181000	0.69327	0.533000	0.62120	CTT	G6PC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457675.1		+	ENST00000269097.4	Missense_Mutation	SNP	17 : 42153230 - 42153230 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	547	101
CCDC141	285025	broad.mit.edu	37	2	179701780	179701780	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179701780C>T	ENST00000480419.1	-	0	808				CCDC141_ENST00000295723.5_Missense_Mutation_p.R814Q|CCDC141_ENST00000420890.2_Missense_Mutation_p.R1389Q			Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	NA							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AATCTCTTCTCGAGGAACCAT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	55	54			NA	NA	2		NA											NA				179701780		2203	4300	6503	SO:0001623	5_prime_UTR_variant			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492	285025	285025		Immunoglobulin superfamily / Immunoglobulin-like domain containing	26821	protein-coding gene	gene with protein product	coiled-coil protein associated with myosin II and DISC1				NA	20956536	Standard	NM_173648	NM_173648	NA	Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000480419.1:c.-1520G>A	2.37:g.179701780C>T		NA	Q8N8H3	37		.	.	.	.	.	.	.	.	.	.	C	7.640	0.680651	0.14907	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.46063	0.88;1.54;1.54	6.17	-12.3	0.00002	.	1.416120	0.04518	N	0.384078	T	0.18759	0.0450	N	0.13235	0.315	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.10450	0.005;0.002	T	0.29579	-1.0007	10	0.02654	T	1	5.3443	13.1713	0.59599	0.0:0.6227:0.1503:0.227	.	814;814	Q6ZP82;Q6ZP82-2	CC141_HUMAN;.	Q	1389;833;814	ENSP00000395995:R1389Q;ENSP00000344627:R833Q;ENSP00000295723:R814Q	ENSP00000295723:R814Q	R	-	2	0	CCDC141	179410025	0.001000	0.12720	0.001000	0.08648	0.189000	0.23516	-2.550000	0.00929	-2.824000	0.00342	-0.982000	0.02568	CGA	CCDC141-002	KNOWN	mRNA_start_NF|basic	processed_transcript	NA	protein_coding	OTTHUMT00000335872.2		-	ENST00000480419.1	5'UTR	SNP	2 : 179701780 - 179701780 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	178	56
GFI1B	8328	broad.mit.edu	37	9	135863798	135863798	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135863798C>A	ENST00000339463.3	+	8	1272	c.453C>A	c.(451-453)gaC>gaA	p.D151E	GFI1B_ENST00000450530.1_Missense_Mutation_p.D151E|GFI1B_ENST00000534944.1_Missense_Mutation_p.D151E|GFI1B_ENST00000372122.1_Missense_Mutation_p.D151E|GFI1B_ENST00000372123.1_Missense_Mutation_p.D151E|GFI1B_ENST00000372124.1_Missense_Mutation_p.D151E			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	151	Interaction with ARIH2.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		CCGCCTTGGACTTCAGCCTCC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	50	55			NA	NA	9		NA											NA				135863798		2203	4300	6503	SO:0001583	missense			AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702	8328	8328		Zinc fingers, C2H2-type	4238	protein-coding gene	gene with protein product		604383	growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)		NA	9878267	Standard	NM_004188	NM_001135031	NA	Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.453C>A	9.37:g.135863798C>A	ENSP00000344782:p.Asp151Glu	NA	O95270|Q5VTD8|Q6FHZ2|Q6T888	37	CCDS6957.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914611	0.72983	.	.	ENSG00000165702	ENST00000372124;ENST00000339463;ENST00000450530;ENST00000534944;ENST00000372123;ENST00000372122	T;T;T;T;T;T	0.09163	3.15;3.01;3.01;3.15;3.15;3.01	4.97	4.97	0.65823	.	0.055638	0.64402	D	0.000001	T	0.18923	0.0454	L	0.45698	1.435	0.48341	D	0.999639	D;P	0.54772	0.968;0.907	P;P	0.58970	0.849;0.663	T	0.00500	-1.1703	10	0.52906	T	0.07	-38.8123	7.2867	0.26344	0.0:0.8095:0.0:0.1905	.	151;151	Q5VTD9-2;Q5VTD9	.;GFI1B_HUMAN	E	151	ENSP00000361197:D151E;ENSP00000344782:D151E;ENSP00000409546:D151E;ENSP00000446134:D151E;ENSP00000361196:D151E;ENSP00000361195:D151E	ENSP00000344782:D151E	D	+	3	2	GFI1B	134853619	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	2.819000	0.48049	2.276000	0.75962	0.563000	0.77884	GAC	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393840.1		+	ENST00000339463.3	Missense_Mutation	SNP	9 : 135863798 - 135863798 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	259	43
DNM1	1759	broad.mit.edu	37	9	131008740	131008740	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131008740T>C	ENST00000341179.7	+	16	1831	c.1739T>C	c.(1738-1740)aTg>aCg	p.M580T	DNM1_ENST00000393594.3_Missense_Mutation_p.M580T|DNM1_ENST00000372923.3_Missense_Mutation_p.M580T|DNM1_ENST00000493925.1_3'UTR|DNM1_ENST00000486160.1_Missense_Mutation_p.M580T|DNM1_ENST00000475805.1_Missense_Mutation_p.M580T	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	580	PH.				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						AAGGGCTTTATGTCGAGCAAG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(113;146 1575 2722 28670 29921)							NA				0													210	152	172			NA	NA	9		NA											NA				131008740		2203	4300	6503	SO:0001583	missense			L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976	1759	1759		Pleckstrin homology (PH) domain containing	2972	protein-coding gene	gene with protein product		602377		DNM	NA	2144893, 9143509	Standard	NM_004408	XM_005251763	NA	Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000341179.7:c.1739T>C	9.37:g.131008740T>C	ENSP00000345680:p.Met580Thr	NA	A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	37	CCDS43882.1	.	.	.	.	.	.	.	.	.	.	T	17.26	3.344371	0.61073	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160;ENST00000543158	T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86	4.71	4.71	0.59529	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	1.732920	0.02792	N	0.122157	D	0.84790	0.5550	M	0.89214	3.015	0.80722	D	1	B;B	0.22851	0.076;0.034	B;B	0.35073	0.195;0.123	T	0.67397	-0.5681	10	0.49607	T	0.09	-9.659	14.3359	0.66589	0.0:0.0:0.0:1.0	.	580;580	Q05193;Q05193-3	DYN1_HUMAN;.	T	580;580;580;575;580;580;125	ENSP00000419225:M580T;ENSP00000345680:M580T;ENSP00000362014:M580T;ENSP00000377219:M580T;ENSP00000420045:M580T	ENSP00000345680:M580T	M	+	2	0	DNM1	130048561	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.728000	0.84847	1.972000	0.57404	0.408000	0.27601	ATG	DNM1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355653.1		+	ENST00000341179.7	Missense_Mutation	SNP	9 : 131008740 - 131008740 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	389	77
GSTA2	2939	broad.mit.edu	37	6	52622688	52622688	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52622688G>A	ENST00000493422.1	-	2	213	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	20	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	AGGAGCCACCGGATGGACTCC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	109	110			NA	NA	6		NA											NA				52622688		2203	4300	6503	SO:0001583	missense			AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2939	2939	2.5.1.18	Glutathione S-transferases / Soluble	4627	protein-coding gene	gene with protein product		138360	glutathione S-transferase A2	GST2	NA		Standard	NM_000846	NM_000846	NA	Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.58C>T	6.37:g.52622688G>A	ENSP00000420168:p.Arg20Trp	NA	Q12759|Q16491|Q9NTY6	37	CCDS4944.1	.	.	.	.	.	.	.	.	.	.	g	14.41	2.527229	0.44969	.	.	ENSG00000244067	ENST00000493422	T	0.13196	2.61	2.81	2.81	0.32909	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.50120	0.1597	H	0.99777	4.77	0.49582	D	0.999809	D	0.89917	1.0	D	0.97110	1.0	T	0.73059	-0.4102	10	0.87932	D	0	.	12.7101	0.57083	0.0:0.0:1.0:0.0	.	20	P09210	GSTA2_HUMAN	W	20	ENSP00000420168:R20W	ENSP00000420168:R20W	R	-	1	2	GSTA2	52730647	1.000000	0.71417	0.958000	0.39756	0.329000	0.28539	3.367000	0.52350	1.317000	0.45149	0.184000	0.17185	CGG	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043589.1		-	ENST00000493422.1	Missense_Mutation	SNP	6 : 52622688 - 52622688 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	530	35
ATP5A1	498	broad.mit.edu	37	18	43669671	43669671	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43669671G>A	ENST00000398752.6	-	5	632	c.511C>T	c.(511-513)Cga>Tga	p.R171*	ATP5A1_ENST00000593152.2_Nonsense_Mutation_p.R121*|ATP5A1_ENST00000282050.2_Nonsense_Mutation_p.R171*|ATP5A1_ENST00000590665.1_Nonsense_Mutation_p.R149*	NM_001001935.2|NM_004046.5	NP_001001935.1|NP_004037.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	171					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						AGACCAACTCGCCTACGCGTC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	54	54			NA	NA	18		NA											NA				43669671		2203	4300	6503	SO:0001587	stop_gained			D14710	CCDS11927.1, CCDS58620.1, CCDS59315.1	18q21	2012-10-12	2006-01-13		ENSG00000152234	ENSG00000152234	498	498	3.6.1.14	Mitochondrial respiratory chain complex / Complex V, ATPases / F-type	823	protein-coding gene	gene with protein product		164360	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2, ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle	ATP5AL2, ATPM	NA	1830491	Standard	NM_004046	NM_001257334	NA	Approved	ATP5A, hATP1, OMR, ORM	uc002lbr.2	P25705	OTTHUMG00000132637	ENST00000398752.6:c.511C>T	18.37:g.43669671G>A	ENSP00000381736:p.Arg171*	NA	Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	37	CCDS11927.1	.	.	.	.	.	.	.	.	.	.	G	41	8.968810	0.99019	.	.	ENSG00000152234	ENST00000282050;ENST00000398752;ENST00000542290	.	.	.	5.16	4.2	0.49525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.2256	10.5373	0.45011	0.0:0.0:0.5583:0.4417	.	.	.	.	X	171;171;121	.	ENSP00000282050:R171X	R	-	1	2	ATP5A1	41923669	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.120000	0.57897	2.411000	0.81874	0.563000	0.77884	CGA	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255884.1		-	ENST00000398752.6	Nonsense_Mutation	SNP	18 : 43669671 - 43669671 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	421	74
AKAP13	11214	broad.mit.edu	37	15	86125099	86125099	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86125099G>A	ENST00000394518.2	+	7	3895	c.3800G>A	c.(3799-3801)gGa>gAa	p.G1267E	AKAP13_ENST00000361243.2_Missense_Mutation_p.G1267E	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1267					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AAGGCCGCTGGAGCACTGCTT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(94;603 1453 3280 32295 32951)							NA				0													58	55	56			NA	NA	15		NA											NA				86125099		2202	4299	6501	SO:0001583	missense			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776	11214	11214		A-kinase anchor proteins, Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	371	protein-coding gene	gene with protein product		604686	lymphoid blast crisis oncogene	LBC	NA	9627117, 1860836	Standard	NM_007200	NM_007200	NA	Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.3800G>A	15.37:g.86125099G>A	ENSP00000378026:p.Gly1267Glu	NA	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	37	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.818539	0.32145	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.13538	2.58;2.58	5.53	1.48	0.22813	.	.	.	.	.	T	0.09862	0.0242	L	0.32530	0.975	0.09310	N	0.999999	B;B	0.24258	0.1;0.05	B;B	0.26770	0.033;0.073	T	0.32481	-0.9905	9	0.38643	T	0.18	.	4.7716	0.13158	0.2482:0.1669:0.5849:0.0	.	1267;1267	Q12802;Q12802-2	AKP13_HUMAN;.	E	1267;1267;1266;1266	ENSP00000354718:G1267E;ENSP00000378026:G1267E	ENSP00000354718:G1267E	G	+	2	0	AKAP13	83926103	0.394000	0.25246	0.009000	0.14445	0.004000	0.04260	0.557000	0.23454	0.652000	0.30806	0.655000	0.94253	GGA	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417318.1		+	ENST00000394518.2	Missense_Mutation	SNP	15 : 86125099 - 86125099 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	228	46
ATN1	1822	broad.mit.edu	37	12	7047972	7047972	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7047972G>A	ENST00000356654.4	+	7	3083	c.2846G>A	c.(2845-2847)gGc>gAc	p.G949D	ATN1_ENST00000396684.2_Missense_Mutation_p.G949D	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	949					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CTCAAGCCTGGCTTTGAGGTG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	58	55			NA	NA	12		NA											NA				7047972		2203	4300	6503	SO:0001583	missense			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676	1822	1822			3033	protein-coding gene	gene with protein product		607462	dentatorubral-pallidoluysian atrophy (atrophin-1)	D12S755E, DRPLA	NA	8136826	Standard	NM_001940	NM_001940	NA	Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.2846G>A	12.37:g.7047972G>A	ENSP00000349076:p.Gly949Asp	NA	Q99495|Q99621|Q9UEK7	37	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838724	0.91117	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.52295	0.67;0.67;0.67	4.91	4.91	0.64330	.	0.000000	0.34603	U	0.003829	T	0.67590	0.2909	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69499	-0.5129	10	0.66056	D	0.02	.	18.7426	0.91779	0.0:0.0:1.0:0.0	.	949	P54259	ATN1_HUMAN	D	949;949;949;534	ENSP00000349076:G949D;ENSP00000379915:G949D;ENSP00000441744:G949D	ENSP00000229279:G534D	G	+	2	0	ATN1	6918233	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.235000	0.95353	2.731000	0.93534	0.650000	0.86243	GGC	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401948.2		+	ENST00000356654.4	Missense_Mutation	SNP	12 : 7047972 - 7047972 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	551	81
CD300LF	146722	broad.mit.edu	37	17	72699238	72699238	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72699238C>A	ENST00000583937.1	-	3	501	c.427G>T	c.(427-429)Gca>Tca	p.A143S	CD300LF_ENST00000343125.4_Splice_Site|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000464910.1_Splice_Site|CD300LF_ENST00000581500.1_Missense_Mutation_p.A146S|CD300LF_ENST00000469092.1_Splice_Site|CD300LF_ENST00000301573.9_Splice_Site|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000361254.4_Missense_Mutation_p.A146S|CD300LF_ENST00000326165.6_Splice_Site			Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	128						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GTGACTGGTGCTGTAAACGTA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													216	174	188			NA	NA	17		NA											NA				72699238		2203	4300	6503	SO:0001583	missense			BC028199	CCDS11704.1, CCDS74148.1, CCDS74149.1, CCDS74150.1, CCDS74151.1, CCDS74152.1	17q25.2	2013-01-11	2006-03-29		ENSG00000186074	ENSG00000186074	146722	146722		Immunoglobulin superfamily / V-set domain containing	29883	protein-coding gene	gene with protein product		609807	CD300 antigen like family member F		NA	12975309	Standard	NM_139018	NM_139018	NA	Approved	IREM1, NKIR, IGSF13, CD300f, CLM1	uc002jlg.3	Q8TDQ1	OTTHUMG00000067609	ENST00000583937.1:c.427G>T	17.37:g.72699238C>A	ENSP00000462309:p.Ala143Ser	NA	B2RCL2|C9JDN3|Q3Y6P0|Q6UX24|Q7Z6A6|Q7Z7I4|Q7Z7I5|Q8N6D0|Q8NAF5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.397|5.397	0.258510|0.258510	0.10239|0.10239	.|.	.|.	ENSG00000186074|ENSG00000186074	ENST00000301573;ENST00000343125;ENST00000326165|ENST00000361254	.|T	.|0.03663	.|3.85	4.35|4.35	0.167|0.167	0.15006|0.15006	.|.	.|.	.|.	.|.	.|.	.|T	.|0.02193	.|0.0068	.|.	.|.	.|.	0.20196|0.20196	N|N	0.999926|0.999926	.|P;B	.|0.35272	.|0.493;0.42	.|B;B	.|0.29176	.|0.045;0.099	.|T	.|0.48833	.|-0.9000	.|7	.|.	.|.	.|.	.|.	6.1128|6.1128	0.20110|0.20110	0.0:0.5579:0.0:0.4421|0.0:0.5579:0.0:0.4421	.|.	.|143;146	.|E7EME0;Q8TDQ1-2	.|.;.	.|S	-1|146	.|ENSP00000355294:A146S	.|.	.|A	-|-	.|1	.|0	CD300LF|CD300LF	70210833|70210833	0.013000|0.013000	0.17824|0.17824	0.002000|0.002000	0.10522|0.10522	0.008000|0.008000	0.06430|0.06430	-0.022000|-0.022000	0.12480|0.12480	0.221000|0.221000	0.20879|0.20879	0.655000|0.655000	0.94253|0.94253	.|GCA	CD300LF-006	NOVEL	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000443666.1		-	ENST00000583937.1	Missense_Mutation	SNP	17 : 72699238 - 72699238 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	444	65
SH2D2A	9047	broad.mit.edu	37	1	156779246	156779246	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156779246C>T	ENST00000368199.3	-	7	904	c.751G>A	c.(751-753)Gcc>Acc	p.A251T	SH2D2A_ENST00000368198.3_Missense_Mutation_p.A233T|SH2D2A_ENST00000392306.2_Missense_Mutation_p.A261T	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	251	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGAGGTTTGGCGGGGATGGGA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	54	62	59		781,697,667,751,751	3	0.4	1		59	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	SH2D2A	NM_001161441.1,NM_001161442.1,NM_001161443.1,NM_001161444.1,NM_003975.3	58,58,58,58,58	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	261/400,233/372,223/362,251/390,251/390	156779246	1,13005	2203	4300	6503	SO:0001583	missense			AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869	9047	9047		SH2 domain containing	10821	protein-coding gene	gene with protein product	T lymphocyte specific adaptor protein, T cell specific adapter protein TSAd, T cell specific adpater protein TSAd	604514	SH2 domain protein 2A		NA	9468509	Standard	NM_003975	NM_003975	NA	Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.751G>A	1.37:g.156779246C>T	ENSP00000357182:p.Ala251Thr	NA	O43817|Q5VZS5|Q9UPA7	37	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312911	0.40895	2.27E-4	0.0	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.60920	0.19;0.15;0.6	3.92	3.0	0.34707	.	0.769781	0.11950	N	0.513770	T	0.34193	0.0889	L	0.34521	1.04	0.21984	N	0.999432	D;D;D	0.61697	0.99;0.983;0.983	P;B;B	0.49192	0.602;0.397;0.397	T	0.05289	-1.0894	10	0.33141	T	0.24	-9.6279	9.5505	0.39306	0.0:0.8926:0.0:0.1074	.	261;233;251	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	T	251;233;261	ENSP00000357182:A251T;ENSP00000357181:A233T;ENSP00000376123:A261T	ENSP00000357181:A233T	A	-	1	0	SH2D2A	155045870	0.704000	0.27836	0.424000	0.26647	0.690000	0.40134	1.018000	0.30002	0.984000	0.38629	-0.266000	0.10368	GCC	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000098982.1		-	ENST00000368199.3	Missense_Mutation	SNP	1 : 156779246 - 156779246 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	640	115
ABCA13	154664	broad.mit.edu	37	7	48259027	48259027	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48259027G>A	ENST00000435803.1	+	4	388	c.364G>A	c.(364-366)Gca>Aca	p.A122T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	122					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACAAGACCTGGCAGAGGAAAT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	88	89			NA	NA	7		NA											NA				48259027		1829	4086	5915	SO:0001583	missense			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869	154664	154664		ATP binding cassette transporters / subfamily A	14638	protein-coding gene	gene with protein product		607807			NA	12697998	Standard	NM_152701	NM_152701	NA	Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.364G>A	7.37:g.48259027G>A	ENSP00000411096:p.Ala122Thr	NA	Q6ZTT7|Q86WI2|Q8N248	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.499576	0.64298	.	.	ENSG00000179869	ENST00000435803	D	0.87650	-2.28	5.58	4.69	0.59074	.	0.000000	0.47455	D	0.000231	D	0.90916	0.7145	M	0.61703	1.905	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	P;D	0.65233	0.859;0.933	D	0.90794	0.4689	10	0.51188	T	0.08	.	12.2406	0.54540	0.0:0.0:0.8302:0.1698	.	122;122	Q86UQ4;Q86UQ4-2	ABCAD_HUMAN;.	T	122	ENSP00000411096:A122T	ENSP00000409268:A122T	A	+	1	0	ABCA13	48229573	0.834000	0.29399	0.069000	0.20011	0.532000	0.34746	1.626000	0.37039	1.466000	0.48025	0.655000	0.94253	GCA	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341964.2		+	ENST00000435803.1	Missense_Mutation	SNP	7 : 48259027 - 48259027 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	103
DNAH8	1769	broad.mit.edu	37	6	38743659	38743659	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38743659C>A	ENST00000359357.3	+	11	1497	c.1243C>A	c.(1243-1245)Ctg>Atg	p.L415M	DNAH8_ENST00000441566.1_Missense_Mutation_p.L415M|DNAH8_ENST00000449981.2_Missense_Mutation_p.L632M					dynein, axonemal, heavy chain 8	NA										NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATATGACATTCTGGATCCAAG	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	101	96			NA	NA	6		NA											NA				38743659		2202	4284	6486	SO:0001583	missense			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721	1769	1769		Axonemal dyneins	2952	protein-coding gene	gene with protein product		603337	dynein, axonemal, heavy polypeptide 8		NA	9373155	Standard	NM_001206927	NM_001206927	NA	Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.1243C>A	6.37:g.38743659C>A	ENSP00000352312:p.Leu415Met	NA		37		.	.	.	.	.	.	.	.	.	.	C	17.00	3.277399	0.59758	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.64618	-0.11;-0.11;-0.11	5.93	4.17	0.49024	Dynein heavy chain, domain-1 (1);	0.000000	0.64402	D	0.000007	T	0.71584	0.3357	M	0.81497	2.545	0.50313	D	0.999863	D	0.89917	1.0	D	0.97110	1.0	T	0.75451	-0.3313	10	0.59425	D	0.04	.	11.2443	0.48987	0.0:0.8568:0.0:0.1432	.	415	Q96JB1	DYH8_HUMAN	M	620;620;415;415	ENSP00000333363:L620M;ENSP00000352312:L415M;ENSP00000402294:L415M	ENSP00000333363:L620M	L	+	1	2	DNAH8	38851637	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.555000	0.45854	0.866000	0.35629	-0.150000	0.13652	CTG	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000043574.1		+	ENST00000359357.3	Missense_Mutation	SNP	6 : 38743659 - 38743659 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	498	86
TENM2	57451	broad.mit.edu	37	5	167674992	167674992	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167674992C>A	ENST00000520394.1	+	23	6382	c.6331C>A	c.(6331-6333)Ctc>Atc	p.L2111I	TENM2_ENST00000403607.2_Missense_Mutation_p.L2174I|TENM2_ENST00000519204.1_Missense_Mutation_p.L2229I|TENM2_ENST00000545108.1_Missense_Mutation_p.L2349I|TENM2_ENST00000518659.1_Missense_Mutation_p.L2350I					teneurin transmembrane protein 2	NA											NA						GTACTACGACCTCCAGGGCCA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	109	107			NA	NA	5		NA											NA				167674992		2057	4213	6270	SO:0001583	missense			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934	57451	57451			29943	protein-coding gene	gene with protein product		610119	odz, odd Oz/ten-m homolog 2 (Drosophila)	ODZ2	NA	10625539	Standard	NM_001122679	NM_001122679	NA	Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000520394.1:c.6331C>A	5.37:g.167674992C>A	ENSP00000427874:p.Leu2111Ile	NA		37		.	.	.	.	.	.	.	.	.	.	c	17.42	3.384351	0.61845	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90069	-2.13;-2.12;-2.23;-2.58;-2.61	5.43	4.53	0.55603	.	0.059631	0.64402	D	0.000002	D	0.93184	0.7829	M	0.81341	2.54	0.38619	D	0.951103	D;D;D	0.64830	0.994;0.989;0.99	P;P;D	0.72982	0.901;0.744;0.979	D	0.92691	0.6166	10	0.38643	T	0.18	.	9.3598	0.38188	0.0:0.7789:0.1459:0.0752	.	2349;2350;2111	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	I	2350;2349;2229;2111;2174	ENSP00000429430:L2350I;ENSP00000438635:L2349I;ENSP00000428964:L2229I;ENSP00000427874:L2111I;ENSP00000384905:L2174I	ENSP00000384905:L2174I	L	+	1	0	ODZ2	167607570	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.728000	0.47319	1.227000	0.43598	0.556000	0.70494	CTC	TENM2-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000371066.2		+	ENST00000520394.1	Missense_Mutation	SNP	5 : 167674992 - 167674992 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	490	93
CSDE1	7812	broad.mit.edu	37	1	115269646	115269646	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115269646G>A	ENST00000530886.1	-	11	1619	c.1032C>T	c.(1030-1032)gcC>gcT	p.A344A	CSDE1_ENST00000358528.4_Silent_p.A474A|CSDE1_ENST00000339438.6_Silent_p.A443A|CSDE1_ENST00000369530.1_Silent_p.A489A|CSDE1_ENST00000261443.5_Silent_p.A443A|CSDE1_ENST00000534699.1_Silent_p.A474A|CSDE1_ENST00000438362.2_Silent_p.A520A			O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	474					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCACATCCTTGGCTTGAAAAG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	127	133			NA	NA	1		NA											NA				115269646		2203	4300	6503	SO:0001819	synonymous_variant				CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307	7812	7812			29905	protein-coding gene	gene with protein product	upstream of NRAS	191510			NA	2204029, 10048485	Standard	NM_007158	NM_007158	NA	Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000530886.1:c.1032C>T	1.37:g.115269646G>A		NA	A8K281|O94961|Q5TF04|Q5TF05|Q68DI9|Q9Y2S4	37																																																																																				CSDE1-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000392607.1		-	ENST00000530886.1	Silent	SNP	1 : 115269646 - 115269646 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	72
CORO1B	57175	broad.mit.edu	37	11	67205955	67205955	+	Missense_Mutation	SNP	C	C	A	rs150750630		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67205955C>A	ENST00000341356.5	-	11	1472	c.1362G>T	c.(1360-1362)gaG>gaT	p.E454D	CORO1B_ENST00000539724.1_5'UTR|CORO1B_ENST00000393893.1_Missense_Mutation_p.E454D	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	454					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GCATCACCTCCTCCAGCTTCC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	32	31			NA	NA	11		NA											NA				67205955		2200	4295	6495	SO:0001583	missense			AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725	57175	57175		Coronins, WD repeat domain containing	2253	protein-coding gene	gene with protein product		609849	coronin, actin-binding protein, 1B		NA	9778037	Standard	NM_020441	NM_001018070	NA	Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.1362G>T	11.37:g.67205955C>A	ENSP00000340211:p.Glu454Asp	NA	B2RD45	37	CCDS8164.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.272346	0.23221	.	.	ENSG00000172725	ENST00000393893;ENST00000341356	T;T	0.61980	0.06;0.06	4.97	-3.5	0.04710	.	0.407209	0.18103	N	0.151625	T	0.32734	0.0839	N	0.17082	0.46	0.27748	N	0.944249	B	0.02656	0.0	B	0.10450	0.005	T	0.30534	-0.9975	10	0.08179	T	0.78	-16.5489	5.61	0.17400	0.0:0.213:0.279:0.508	.	454	Q9BR76	COR1B_HUMAN	D	454	ENSP00000377471:E454D;ENSP00000340211:E454D	ENSP00000340211:E454D	E	-	3	2	CORO1B	66962531	0.022000	0.18835	0.979000	0.43373	0.767000	0.43475	-0.983000	0.03759	-0.505000	0.06568	-0.232000	0.12228	GAG	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396220.1		-	ENST00000341356.5	Missense_Mutation	SNP	11 : 67205955 - 67205955 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	386	64
ADCK3	56997	broad.mit.edu	37	1	227174321	227174321	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227174321G>A	ENST00000366779.1	+	20	4598	c.1827G>A	c.(1825-1827)ctG>ctA	p.L609L	ADCK3_ENST00000458507.2_Silent_p.L330L|ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000366778.1_Silent_p.L557L|ADCK3_ENST00000366777.3_Silent_p.L609L|ADCK3_ENST00000433743.2_Silent_p.L283L			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	609					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CCTACTCCCTGCACAGGAAGA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	100	101			NA	NA	1		NA											NA				227174321		2203	4300	6503	SO:0001819	synonymous_variant			AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050	56997	56997			16812	protein-coding gene	gene with protein product	coenzyme Q8 homolog (yeast)	606980	chaperone-ABC1 (activity of bc1 complex, S.pombe)-like, chaperone, ABC1 activity of bc1 complex like (S. pombe), chaperone, ABC1 activity of bc1 complex homolog (S. pombe)	CABC1	NA		Standard	NM_020247	NM_020247	NA	Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.1827G>A	1.37:g.227174321G>A		NA	Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	37	CCDS1557.1																																																																																			ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091712.1		+	ENST00000366779.1	Silent	SNP	1 : 227174321 - 227174321 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	651	79
TSSC1	7260	broad.mit.edu	37	2	3196197	3196197	+	Missense_Mutation	SNP	C	C	T	rs143356052	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:3196197C>T	ENST00000398659.4	-	9	1198	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000382125.4_Missense_Mutation_p.R326H			Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	326							protein binding			breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		CTCTTCAGAACGGTGGTCCTC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(140;1261 1762 4183 34270 49743)							NA				0								C	HIS/ARG	2,4402	4.2+/-10.8	0,2,2200	144	110	122		977	0.8	0	2	dbSNP_134	122	7,8593	5.7+/-21.5	0,7,4293	yes	missense	TSSC1	NM_003310.2	29	0,9,6493	TT,TC,CC	NA	0.0814,0.0454,0.0692	benign	326/388	3196197	9,12995	2202	4300	6502	SO:0001583	missense			AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389	7260	7260		WD repeat domain containing	12383	protein-coding gene	gene with protein product		608998			NA	9403053, 9925925	Standard	NM_003310	NM_003310	NA	Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000398659.4:c.1058G>A	2.37:g.3196197C>T	ENSP00000381652:p.Arg353His	NA	D6W4Y1|O43179|Q53S19|Q53SG2	37		.	.	.	.	.	.	.	.	.	.	C	1.958	-0.439519	0.04636	4.54E-4	8.14E-4	ENSG00000032389	ENST00000382125;ENST00000398659;ENST00000441271	D;D;T	0.83673	-1.69;-1.75;-1.22	5.55	0.785	0.18584	WD40/YVTN repeat-like-containing domain (1);	0.480333	0.26773	N	0.022580	T	0.49813	0.1579	N	0.00926	-1.1	0.58432	D	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.18493	-1.0335	10	0.39692	T	0.17	-0.7685	1.0524	0.01582	0.165:0.3348:0.1688:0.3314	.	326	Q53HC9	TSSC1_HUMAN	H	326;353;175	ENSP00000371559:R326H;ENSP00000381652:R353H;ENSP00000393350:R175H	ENSP00000371559:R326H	R	-	2	0	TSSC1	3175204	0.737000	0.28175	0.020000	0.16555	0.346000	0.29079	1.064000	0.30579	-0.083000	0.12618	-0.471000	0.05019	CGT	TSSC1-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000322629.1		-	ENST00000398659.4	Missense_Mutation	SNP	2 : 3196197 - 3196197 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	208	38
C22orf42	150297	broad.mit.edu	37	22	32555003	32555003	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32555003G>A	ENST00000382097.3	-	1	272	c.200C>T	c.(199-201)cCg>cTg	p.P67L		NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	67										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						CGGCGTCTTCGGGAGGCTGAG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	175	177			NA	NA	22		NA											NA				32555003		2203	4300	6503	SO:0001583	missense			BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856	150297	150297			27160	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_001010859	XM_005261369	NA	Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.200C>T	22.37:g.32555003G>A	ENSP00000371529:p.Pro67Leu	NA	A4QPH5	37	CCDS33639.1	.	.	.	.	.	.	.	.	.	.	G	3.665	-0.068624	0.07228	.	.	ENSG00000205856	ENST00000382097	T	0.24723	1.84	.	.	.	.	.	.	.	.	T	0.21427	0.0516	N	0.08118	0	0.09310	N	1	D	0.61697	0.99	P	0.59546	0.859	T	0.15983	-1.0418	7	0.51188	T	0.08	.	.	.	.	.	67	Q6IC83	CV042_HUMAN	L	67	ENSP00000371529:P67L	ENSP00000371529:P67L	P	-	2	0	C22orf42	30885003	0.003000	0.15002	0.025000	0.17156	0.029000	0.11900	0.226000	0.17776	0.064000	0.16427	0.064000	0.15345	CCG	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075268.2		-	ENST00000382097.3	Missense_Mutation	SNP	22 : 32555003 - 32555003 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1527	285
PDLIM3	27295	broad.mit.edu	37	4	186423589	186423589	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186423589G>A	ENST00000284770.5	-	8	1027	c.954C>T	c.(952-954)ttC>ttT	p.F318F	PDLIM3_ENST00000284771.6_Silent_p.F270F|PDLIM3_ENST00000284767.5_3'UTR	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	318	LIM zinc-binding.					sarcomere	zinc ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		CGGCACACACGAAGCACTCAG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	110	115			NA	NA	4		NA											NA				186423589		2203	4300	6503	SO:0001819	synonymous_variant			AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553	27295	27295			20767	protein-coding gene	gene with protein product		605889			NA	10063829, 8828038	Standard	NM_014476	NM_014476	NA	Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.954C>T	4.37:g.186423589G>A		NA	B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	37	CCDS3844.1																																																																																			PDLIM3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360499.2		-	ENST00000284770.5	Silent	SNP	4 : 186423589 - 186423589 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	636	66
PLCG2	5336	broad.mit.edu	37	16	81944315	81944315	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81944315G>A	ENST00000359376.3	+	18	2138	c.1924G>A	c.(1924-1926)Gag>Aag	p.E642K		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	642					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CAACCCCCACGAGTCCAAGCC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	LYS/GLU	1,4155		0,1,2077	83	92	89		1924	5	1	16		89	0,8422		0,0,4211	no	missense	PLCG2	NM_002661.3	56	0,1,6288	AA,AG,GG	NA	0.0,0.0241,0.0080	possibly-damaging	642/1266	81944315	1,12577	2078	4211	6289	SO:0001583	missense				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	5336	5336	3.1.4.11	SH2 domain containing	9066	protein-coding gene	gene with protein product		600220			NA	7835906	Standard		XR_248240	NA	Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1924G>A	16.37:g.81944315G>A	ENSP00000352336:p.Glu642Lys	NA	D3DUL3|Q3ZTS2|Q59H45|Q969T5	37	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450329	0.63290	2.41E-4	0.0	ENSG00000197943	ENST00000359376	D	0.93019	-3.15	4.97	4.97	0.65823	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);SH2 motif (1);	0.194915	0.45867	D	0.000333	D	0.93383	0.7890	L	0.59436	1.845	0.43863	D	0.996463	D;P	0.64830	0.994;0.888	P;B	0.51487	0.671;0.073	D	0.93177	0.6571	10	0.49607	T	0.09	.	13.2269	0.59919	0.0:0.0:0.841:0.159	.	509;642	B4E3H3;P16885	.;PLCG2_HUMAN	K	642	ENSP00000352336:E642K	ENSP00000352336:E642K	E	+	1	0	PLCG2	80501816	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	4.682000	0.61671	2.320000	0.78422	0.491000	0.48974	GAG	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432429.1		+	ENST00000359376.3	Missense_Mutation	SNP	16 : 81944315 - 81944315 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1088	229
ANKS1A	23294	broad.mit.edu	37	6	34937945	34937945	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34937945T>C	ENST00000360359.3	+	3	573		c.e3+2		ANKS1A_ENST00000535627.1_Splice_Site	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	NA						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AATGAACAGGTCGGAAGGAAG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	78	85			NA	NA	6		NA											NA				34937945		2203	4300	6503	SO:0001630	splice_region_variant			D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999	23294	23294		Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	20961	protein-coding gene	gene with protein product		608994	ankyrin repeat and SAM domain containing 1, ankyrin repeat and sterile alpha motif domain containing 1	ANKS1	NA	9039502	Standard	XM_166478	NM_015245	NA	Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.435+2T>C	6.37:g.34937945T>C		NA	A2RUC1|Q5JYI9|Q5SYR2|Q86WQ7	37	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.026314	0.93518	.	.	ENSG00000064999	ENST00000544150;ENST00000360359;ENST00000535627	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKS1A	35045923	1.000000	0.71417	0.951000	0.38953	0.942000	0.58702	6.290000	0.72712	2.367000	0.80283	0.528000	0.53228	.	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040262.1	Intron	+	ENST00000360359.3	Splice_Site	SNP	6 : 34937945 - 34937945 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	241	50
TUBGCP4	27229	broad.mit.edu	37	15	43693986	43693986	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43693986C>T	ENST00000564079.1	+	15	1909	c.1669C>T	c.(1669-1671)Cga>Tga	p.R557*	TUBGCP4_ENST00000260383.7_Nonsense_Mutation_p.R558*|TUBGCP4_ENST00000399460.3_3'UTR	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	558					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		TGAAAGCATCCGATTGGCTCA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	127	129			NA	NA	15		NA											NA				43693986		1907	4130	6037	SO:0001587	stop_gained			AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822	27229	27229			16691	protein-coding gene	gene with protein product		609610			NA	10562286	Standard	NM_014444	NM_001286414	NA	Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000564079.1:c.1669C>T	15.37:g.43693986C>T	ENSP00000456648:p.Arg557*	NA	B3KNK6|Q969X3|Q9NVF0	37	CCDS42030.1	.	.	.	.	.	.	.	.	.	.	C	42	9.353226	0.99145	.	.	ENSG00000137822	ENST00000260383	.	.	.	5.87	5.87	0.94306	.	0.126603	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-12.9544	19.5705	0.95413	0.0:1.0:0.0:0.0	.	.	.	.	X	557	.	ENSP00000260383:R557X	R	+	1	2	TUBGCP4	41481278	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.945000	0.56637	2.941000	0.99782	0.655000	0.94253	CGA	TUBGCP4-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432971.1		+	ENST00000564079.1	Nonsense_Mutation	SNP	15 : 43693986 - 43693986 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	478	84
SCUBE1	80274	broad.mit.edu	37	22	43614381	43614381	+	Missense_Mutation	SNP	G	G	A	rs150769460	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43614381G>A	ENST00000360835.4	-	15	1897	c.1771C>T	c.(1771-1773)Cgg>Tgg	p.R591W		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	NA					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				AACTGCTGCCGGCCGATGGAC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG	0,4406		0,0,2203	104	110	108		1771	3.2	1	22	dbSNP_134	108	20,8580	15.3+/-51.7	0,20,4280	yes	missense	SCUBE1	NM_173050.3	101	0,20,6483	AA,AG,GG	NA	0.2326,0.0,0.1538	probably-damaging	591/989	43614381	20,12986	2203	4300	6503	SO:0001583	missense				CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307	80274	80274			13441	protein-coding gene	gene with protein product		611746			NA	11087664	Standard	NM_173050	NM_173050	NA	Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.1771C>T	22.37:g.43614381G>A	ENSP00000354080:p.Arg591Trp	NA	Q5R336	37	CCDS14048.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101396	0.76983	0.0	0.002326	ENSG00000159307	ENST00000360835;ENST00000381243	D	0.86297	-2.1	4.29	3.2	0.36748	.	0.162750	0.52532	D	0.000063	D	0.88706	0.6509	M	0.61703	1.905	0.80722	D	1	D	0.65815	0.995	P	0.55455	0.776	D	0.89037	0.3446	10	0.87932	D	0	.	9.6957	0.40156	0.0:0.0:0.5699:0.4301	.	591	Q8IWY4	SCUB1_HUMAN	W	591;221	ENSP00000354080:R591W	ENSP00000354080:R591W	R	-	1	2	SCUBE1	41944325	1.000000	0.71417	0.999000	0.59377	0.840000	0.47671	1.520000	0.35899	2.215000	0.71742	0.558000	0.71614	CGG	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319582.3		-	ENST00000360835.4	Missense_Mutation	SNP	22 : 43614381 - 43614381 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1054	164
KRT4	3851	broad.mit.edu	37	12	53207653	53207653	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53207653T>A	ENST00000551956.1	-	1	682	c.190A>T	c.(190-192)Agt>Tgt	p.S64C	KRT4_ENST00000458244.2_Intron|KRT4_ENST00000293774.4_Missense_Mutation_p.S138C			B4DRS2	B4DRS2_HUMAN	keratin 4	64						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CCAGCCACACTCATGGAGATG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(190;284 2995 41444 45903)							NA				0													114	132	126			NA	NA	12		NA											NA				53207653		2107	4249	6356	SO:0001583	missense				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477	3851	3851		-, Intermediate filaments type II, keratins (basic)	6441	protein-coding gene	gene with protein product	cytokeratin 4, keratin, type II cytoskeletal 4	123940		CYK4	NA	16831889	Standard	NM_002272	NM_002272	NA	Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.190A>T	12.37:g.53207653T>A	ENSP00000448220:p.Ser64Cys	NA		37	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	T	14.89	2.670130	0.47677	.	.	ENSG00000170477	ENST00000551956;ENST00000293774	D;T	0.86956	-2.19;2.12	5.0	3.82	0.43975	.	0.000000	0.56097	D	0.000024	D	0.89455	0.6720	M	0.72894	2.215	0.58432	D	0.999995	.	.	.	.	.	.	D	0.88758	0.3255	8	0.72032	D	0.01	.	8.6374	0.33957	0.0:0.1648:0.0:0.8352	.	.	.	.	C	64;138	ENSP00000448220:S64C;ENSP00000293774:S138C	ENSP00000293774:S138C	S	-	1	0	KRT4	51493920	.	.	0.787000	0.31911	0.595000	0.36748	.	.	0.976000	0.38417	0.477000	0.44152	AGT	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405931.1		-	ENST00000551956.1	Missense_Mutation	SNP	12 : 53207653 - 53207653 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1311	239
LMOD3	56203	broad.mit.edu	37	3	69169146	69169146	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69169146T>G	ENST00000420581.2	-	2	539	c.360A>C	c.(358-360)aaA>aaC	p.K120N	LMOD3_ENST00000489031.1_Missense_Mutation_p.K120N|LMOD3_ENST00000475434.1_Missense_Mutation_p.K120N	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	120	Glu-rich.					cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TGAGCTTTTCTTTTAAATACT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	49	52			NA	NA	3		NA											NA				69169146		1829	4083	5912	SO:0001583	missense			AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380	56203	56203			6649	protein-coding gene	gene with protein product					NA		Standard	XM_067529	NM_198271	NA	Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.360A>C	3.37:g.69169146T>G	ENSP00000414670:p.Lys120Asn	NA	B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	37	CCDS46862.1	.	.	.	.	.	.	.	.	.	.	T	8.956	0.969269	0.18659	.	.	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	T;T;T	0.42513	0.97;0.97;0.97	5.43	1.65	0.23941	.	1.267940	0.04832	N	0.438860	T	0.42630	0.1211	L	0.57536	1.79	0.19300	N	0.99997	B	0.32010	0.351	B	0.40329	0.326	T	0.32348	-0.9910	10	0.19590	T	0.45	-30.8145	3.7605	0.08602	0.2288:0.2411:0.0:0.5301	.	120	Q0VAK6	LMOD3_HUMAN	N	120	ENSP00000414670:K120N;ENSP00000417210:K120N;ENSP00000418645:K120N	ENSP00000414670:K120N	K	-	3	2	LMOD3	69251836	0.012000	0.17670	0.999000	0.59377	0.752000	0.42762	0.255000	0.18333	0.363000	0.24346	0.482000	0.46254	AAA	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352138.1		-	ENST00000420581.2	Missense_Mutation	SNP	3 : 69169146 - 69169146 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	85	15
ABL1	25	broad.mit.edu	37	9	133759474	133759474	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133759474G>C	ENST00000318560.5	+	11	2178	c.1797G>C	c.(1795-1797)ttG>ttC	p.L599F		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	599					actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	AGACCAACTTGTTCAGCGCCT	0.597		NA	T, Mis	BCR, ETV6, NUP214	CML, ALL, T-ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	0													87	98	94			NA	NA	9		NA											NA				133759474		2203	4300	6503	SO:0001583	missense			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007	25	25		SH2 domain containing	76	protein-coding gene	gene with protein product		189980	v-abl Abelson murine leukemia viral oncogene homolog 1, c-abl oncogene 1, receptor tyrosine kinase, c-abl oncogene 1, non-receptor tyrosine kinase	ABL	NA	1857987, 12626632	Standard	NM_007313	NM_007313	NA	Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1797G>C	9.37:g.133759474G>C	ENSP00000323315:p.Leu599Phe	NA	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	37	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	G	0.314	-0.965761	0.02249	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.16457	2.34;2.34	5.47	1.45	0.22620	.	0.069857	0.64402	D	0.000015	T	0.07503	0.0189	N	0.17082	0.46	0.37654	D	0.922527	B;B	0.14012	0.009;0.004	B;B	0.12837	0.008;0.008	T	0.27331	-1.0077	10	0.24483	T	0.36	.	2.1658	0.03836	0.228:0.2177:0.4413:0.1131	.	599;636	P00519;Q59FK4	ABL1_HUMAN;.	F	414;618;599	ENSP00000361423:L618F;ENSP00000323315:L599F	ENSP00000323315:L599F	L	+	3	2	ABL1	132749295	0.999000	0.42202	0.992000	0.48379	0.899000	0.52679	0.652000	0.24888	0.289000	0.22422	-0.258000	0.10820	TTG	ABL1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054684.1		+	ENST00000318560.5	Missense_Mutation	SNP	9 : 133759474 - 133759474 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	928	79
WDR33	55339	broad.mit.edu	37	2	128528552	128528552	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128528552C>T	ENST00000322313.4	-	2	162	c.4G>A	c.(4-6)Gct>Act	p.A2T	WDR33_ENST00000393006.1_Missense_Mutation_p.A2T|WDR33_ENST00000409658.3_Missense_Mutation_p.A2T	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	2					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		ATTTCTGTAGCCATGGTGATG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	74	73			NA	NA	2		NA											NA				128528552		2203	4300	6503	SO:0001583	missense				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709	55339	55339		WD repeat domain containing	25651	protein-coding gene	gene with protein product					NA	11162572	Standard	NM_018383	NM_001006622	NA	Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.4G>A	2.37:g.128528552C>T	ENSP00000325377:p.Ala2Thr	NA	Q05DP8|Q53FG9|Q587J1|Q9NUL1	37	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736203	0.89482	.	.	ENSG00000136709	ENST00000322313;ENST00000393006;ENST00000409658;ENST00000408998	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.54	5.54	0.83059	.	0.101382	0.64402	D	0.000002	T	0.56381	0.1981	N	0.08118	0	0.80722	D	1	D;D;D	0.67145	0.996;0.993;0.993	D;D;D	0.74674	0.981;0.971;0.984	T	0.67133	-0.5747	10	0.87932	D	0	-10.2911	19.4948	0.95067	0.0:1.0:0.0:0.0	.	2;2;2	Q9C0J8-2;Q6NUQ0;Q9C0J8	.;.;WDR33_HUMAN	T	2	ENSP00000325377:A2T;ENSP00000376730:A2T;ENSP00000387186:A2T;ENSP00000386861:A2T	ENSP00000325377:A2T	A	-	1	0	WDR33	128245022	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.694000	0.84235	2.614000	0.88457	0.591000	0.81541	GCT	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331141.2		-	ENST00000322313.4	Missense_Mutation	SNP	2 : 128528552 - 128528552 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	238	39
PER1	5187	broad.mit.edu	37	17	8051103	8051103	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8051103C>T	ENST00000317276.4	-	11	1514	c.1277G>A	c.(1276-1278)cGc>cAc	p.R426H	PER1_ENST00000581082.1_Missense_Mutation_p.R406H|PER1_ENST00000354903.5_Missense_Mutation_p.R410H	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	426	PAC.				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGCACAGAAGCGGATAGGGGA	0.617		NA	T	ETV6	AML, CMML			Other conserved DNA damage response genes						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0													37	37	37			NA	NA	17		NA											NA				8051103		2202	4300	6502	SO:0001583	missense			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094	5187	5187			8845	protein-coding gene	gene with protein product		602260	period (Drosophila) homolog 1, period homolog 1 (Drosophila)	PER	NA	9323128	Standard		NM_002616	NA	Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.1277G>A	17.37:g.8051103C>T	ENSP00000314420:p.Arg426His	NA	B2RPA8|D3DTR3	37	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.909148	0.92107	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.43688	0.94;0.94	4.73	4.73	0.59995	PAS fold-3 (1);	0.051652	0.64402	D	0.000001	T	0.76579	0.4007	H	0.97214	3.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.85115	0.0965	10	0.87932	D	0	-19.2658	15.5824	0.76455	0.0:1.0:0.0:0.0	.	410;426	B4DI49;O15534	.;PER1_HUMAN	H	426;410	ENSP00000314420:R426H;ENSP00000346979:R410H	ENSP00000314420:R426H	R	-	2	0	PER1	7991828	0.997000	0.39634	0.997000	0.53966	0.982000	0.71751	7.544000	0.82117	2.619000	0.88677	0.462000	0.41574	CGC	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000441481.2		-	ENST00000317276.4	Missense_Mutation	SNP	17 : 8051103 - 8051103 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	225	35
TRIT1	54802	broad.mit.edu	37	1	40309819	40309819	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40309819C>A	ENST00000316891.5	-	10	1202	c.1188G>T	c.(1186-1188)ctG>ctT	p.L396L	TRIT1_ENST00000441669.2_Silent_p.L314L|TRIT1_ENST00000537223.1_Silent_p.L92L|TRIT1_ENST00000491865.1_5'UTR|TRIT1_ENST00000545233.1_Silent_p.L150L|TRIT1_ENST00000537440.1_Silent_p.L92L|TRIT1_ENST00000541099.1_Silent_p.L14L|TRIT1_ENST00000372818.1_Silent_p.L370L	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	396					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGAGGTCACACAGGTGATAAC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	141	147			NA	NA	1		NA											NA				40309819		2203	4300	6503	SO:0001819	synonymous_variant			AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	54802	54802	2.5.1.8		20286	protein-coding gene	gene with protein product					NA	11111046, 15870694	Standard	NM_017646	NM_017646	NA	Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.1188G>T	1.37:g.40309819C>A		NA	A1A4X7|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	37	CCDS30681.1																																																																																			TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025627.2		-	ENST00000316891.5	Silent	SNP	1 : 40309819 - 40309819 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	380	40
PYGM	5837	broad.mit.edu	37	11	64518041	64518041	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64518041C>A	ENST00000164139.3	-	17	2382	c.1984G>T	c.(1984-1986)Gac>Tac	p.D662Y	PYGM_ENST00000377432.3_Missense_Mutation_p.D574Y	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	662					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TCAGAGAGGTCTGCAGCTGGG	0.607		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	11		NA											NA				64518041		2201	4297	6498	SO:0001583	missense				CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	5837	5837	2.4.1.1	Glycogen phosphorylases	9726	protein-coding gene	gene with protein product	McArdle syndrome, glycogen storage disease type V, glycogen phosphorylase, muscle form	608455	phosphorylase, glycogen; muscle		NA		Standard	NM_005609	NM_005609	NA	Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1984G>T	11.37:g.64518041C>A	ENSP00000164139:p.Asp662Tyr	NA	A0AVK1	37	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445024	0.83993	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.98602	-3.64;-5.02	4.91	4.91	0.64330	.	0.000000	0.53938	D	0.000053	D	0.99423	0.9796	H	0.98701	4.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98100	1.0414	10	0.87932	D	0	-43.9903	15.638	0.76970	0.0:1.0:0.0:0.0	.	574;662	A6NDY6;P11217	.;PYGM_HUMAN	Y	574;662;643	ENSP00000366650:D574Y;ENSP00000164139:D662Y	ENSP00000164139:D662Y	D	-	1	0	PYGM	64274617	1.000000	0.71417	0.974000	0.42286	0.966000	0.64601	7.616000	0.83018	2.564000	0.86499	0.555000	0.69702	GAC	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000143254.2		-	ENST00000164139.3	Missense_Mutation	SNP	11 : 64518041 - 64518041 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	57
TRUB1	142940	broad.mit.edu	37	10	116710908	116710908	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116710908G>A	ENST00000298746.3	+	3	502	c.441G>A	c.(439-441)aaG>aaA	p.K147K	TRUB1_ENST00000485065.1_3'UTR	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	147					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		CAGGGTCCAAGGTAAGAATAC	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													184	187	186			NA	NA	10		NA											NA				116710908		2203	4300	6503	SO:0001630	splice_region_variant			AF448144	CCDS7591.1	10q25.3	2013-09-02	2013-09-02		ENSG00000165832	ENSG00000165832	142940	142940			16060	protein-coding gene	gene with protein product		610726	TruB pseudouridine (psi) synthase homolog 1 (E. coli)		NA	12736709	Standard	NM_139169	NM_139169	NA	Approved	PUS4	uc001lcd.3	Q8WWH5	OTTHUMG00000019094	ENST00000298746.3:c.441+1G>A	10.37:g.116710908G>A		NA	B2R716|Q53ES2	37	CCDS7591.1																																																																																			TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050504.1	Silent	+	ENST00000298746.3	Splice_Site	SNP	10 : 116710908 - 116710908 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	556	39
HTR4	3360	broad.mit.edu	37	5	147845485	147845485	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147845485G>A	ENST00000314512.6	-	7	1243	c.1080C>T	c.(1078-1080)ggC>ggT	p.G360G	HTR4_ENST00000521735.1_Silent_p.G360G|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000354217.2_Intron	NM_199453.3	NP_955525.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	0					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	CAGGGGAACAGCCACTTTTAG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(120;370 1604 14007 17804 41573)							NA				0													143	160	154			NA	NA	5		NA											NA				147845485		2203	4300	6503	SO:0001819	synonymous_variant			Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270	3360	3360		5-HT (serotonin) receptors, GPCR / Class A : 5-HT (serotonin) receptors, GPCR only	5299	protein-coding gene	gene with protein product		602164	5-hydroxytryptamine (serotonin) receptor 4		NA	9371406, 9276448	Standard	NM_000870	NM_199453	NA	Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000314512.6:c.1080C>T	5.37:g.147845485G>A		NA	Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	37	CCDS34271.1																																																																																			HTR4-201	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374235.1		-	ENST00000314512.6	Silent	SNP	5 : 147845485 - 147845485 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1098	178
C11orf94	143678	broad.mit.edu	37	11	45928146	45928146	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45928146C>T	ENST00000449465.1	-	3	307	c.271G>A	c.(271-273)Gag>Aag	p.E91K		NM_001080446.2	NP_001073915.2	C9JXX5	CK094_HUMAN	chromosome 11 open reading frame 94	91						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1)	7						TAGTAATACTCGGCAAGGTCG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	LYS/GLU	0,3844		0,0,1922	85	89	88		271	4.7	0.9	11		88	1,8245		0,1,4122	no	missense	C11orf94	NM_001080446.2	56	0,1,6044	TT,TC,CC	NA	0.0121,0.0,0.0083	probably-damaging	91/99	45928146	1,12089	1922	4123	6045	SO:0001583	missense				CCDS44577.1	11p11.2	2012-08-10			ENSG00000234776	ENSG00000234776	143678	143678			37213	protein-coding gene	gene with protein product					NA		Standard	NM_001080446	NM_001080446	NA	Approved		uc001nbs.4	C9JXX5	OTTHUMG00000167004	ENST00000449465.1:c.271G>A	11.37:g.45928146C>T	ENSP00000401498:p.Glu91Lys	NA		37	CCDS44577.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536627	0.45176	0.0	1.21E-4	ENSG00000234776	ENST00000449465	T	0.53206	0.63	4.66	4.66	0.58398	.	.	.	.	.	T	0.53174	0.1780	.	.	.	0.31659	N	0.64586	D	0.56521	0.976	P	0.47981	0.563	T	0.63580	-0.6605	8	0.62326	D	0.03	-14.8082	17.7516	0.88436	0.0:1.0:0.0:0.0	.	91	C9JXX5	CK094_HUMAN	K	91	ENSP00000401498:E91K	ENSP00000401498:E91K	E	-	1	0	C11orf94	45884722	0.983000	0.35010	0.918000	0.36340	0.016000	0.09150	2.674000	0.46867	2.419000	0.82065	0.655000	0.94253	GAG	C11orf94-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392395.1		-	ENST00000449465.1	Missense_Mutation	SNP	11 : 45928146 - 45928146 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	543	92
TRPM2	7226	broad.mit.edu	37	21	45789167	45789167	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45789167A>G	ENST00000397932.2	+	5	725	c.712A>G	c.(712-714)Acc>Gcc	p.T238A	TRPM2_ENST00000300481.9_Missense_Mutation_p.T238A|TRPM2_ENST00000397928.1_Missense_Mutation_p.T238A|TRPM2_ENST00000300482.5_Missense_Mutation_p.T238A|TRPM2_ENST00000498430.1_3'UTR			O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	238						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CGAGCTCATCACCATCGGAGT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	47	50			NA	NA	21		NA											NA				45789167		2203	4300	6503	SO:0001583	missense			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185	7226	7226		Voltage-gated ion channels / Transient receptor potential cation channels, Nudix motif containing	12339	protein-coding gene	gene with protein product		603749		TRPC7	NA	9806837, 11385575, 16382100	Standard	NM_003307	NR_038257	NA	Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397932.2:c.712A>G	21.37:g.45789167A>G	ENSP00000381026:p.Thr238Ala	NA	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	37		.	.	.	.	.	.	.	.	.	.	A	4.867	0.161075	0.09287	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.02395	4.31;4.31;4.31;4.31	3.51	3.51	0.40186	.	0.146541	0.46758	U	0.000277	T	0.01320	0.0043	N	0.05608	-0.01	0.45806	D	0.998687	P;P	0.40360	0.714;0.512	B;B	0.31946	0.138;0.113	T	0.53760	-0.8393	10	0.02654	T	1	-38.6306	12.4804	0.55839	1.0:0.0:0.0:0.0	.	238;238	E9PGK7;O94759	.;TRPM2_HUMAN	A	238	ENSP00000300482:T238A;ENSP00000381023:T238A;ENSP00000300481:T238A;ENSP00000381026:T238A	ENSP00000300481:T238A	T	+	1	0	TRPM2	44613595	1.000000	0.71417	0.975000	0.42487	0.894000	0.52154	2.993000	0.49425	1.588000	0.49971	0.383000	0.25322	ACC	TRPM2-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000339787.1		+	ENST00000397932.2	Missense_Mutation	SNP	21 : 45789167 - 45789167 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	32
LAMA1	284217	broad.mit.edu	37	18	6943388	6943388	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6943388A>G	ENST00000389658.3	-	62	8951	c.8858T>C	c.(8857-8859)gTc>gCc	p.V2953A		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2953	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCATTGTTGACATGGAACAA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	127	132			NA	NA	18		NA											NA				6943388		2203	4300	6503	SO:0001583	missense			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680	284217	284217		Laminins	6481	protein-coding gene	gene with protein product		150320		LAMA	NA	2591971	Standard	NM_005559	NM_005559	NA	Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8858T>C	18.37:g.6943388A>G	ENSP00000374309:p.Val2953Ala	NA		37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.933569	0.73442	.	.	ENSG00000101680	ENST00000389658	T	0.76578	-1.03	5.41	5.41	0.78517	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.64402	D	0.000004	D	0.85465	0.5703	L	0.60845	1.875	0.46078	D	0.998851	D;D	0.89917	1.0;0.988	D;D	0.97110	1.0;0.917	D	0.84686	0.0720	10	0.37606	T	0.19	.	15.5018	0.75705	1.0:0.0:0.0:0.0	.	2953;283	P25391;B3KSD8	LAMA1_HUMAN;.	A	2953	ENSP00000374309:V2953A	ENSP00000374309:V2953A	V	-	2	0	LAMA1	6933388	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.146000	0.77373	2.073000	0.62155	0.456000	0.33151	GTC	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257369.1		-	ENST00000389658.3	Missense_Mutation	SNP	18 : 6943388 - 6943388 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	65
TM9SF4	9777	broad.mit.edu	37	20	30747903	30747903	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30747903C>T	ENST00000217315.5	+	16	1967	c.1627C>T	c.(1627-1629)Ctg>Ttg	p.L543L	TM9SF4_ENST00000398022.2_Silent_p.L560L			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	560						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GTACTTCCAGCTGTGTGCAGA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													198	150	166			NA	NA	20		NA											NA				30747903		2203	4300	6503	SO:0001819	synonymous_variant			BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337	9777	9777			30797	protein-coding gene	gene with protein product					NA	9039502	Standard	NM_014742	NM_014742	NA	Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000217315.5:c.1627C>T	20.37:g.30747903C>T		NA	B0QYT7|Q9NUA3	37																																																																																				TM9SF4-001	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000078607.4		+	ENST00000217315.5	Silent	SNP	20 : 30747903 - 30747903 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	351	69
GEMIN2	8487	broad.mit.edu	37	14	39587259	39587259	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:39587259G>A	ENST00000308317.6	+	3	395	c.312G>A	c.(310-312)caG>caA	p.Q104Q	GEMIN2_ENST00000250379.8_Silent_p.Q104Q|GEMIN2_ENST00000396249.2_Silent_p.Q104Q	NM_003616.2	NP_003607.1	O14893	GEMI2_HUMAN	gem (nuclear organelle) associated protein 2	104	Poly-Gln.				ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding				NA						AATGGCAACAGCAACAAGTGG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	65	66			NA	NA	14		NA											NA				39587259		2203	4300	6503	SO:0001819	synonymous_variant			AF027150	CCDS9669.1, CCDS32068.1, CCDS41946.1	14q21.1	2011-08-04	2011-08-04	2011-08-04	ENSG00000092208	ENSG00000092208	8487	8487			10884	protein-coding gene	gene with protein product		602595	survival of motor neuron protein interacting protein 1	SIP1	NA	9323130, 9323129, 11121410	Standard		NM_003616	NA	Approved		uc001wuq.3	O14893	OTTHUMG00000028816	ENST00000308317.6:c.312G>A	14.37:g.39587259G>A		NA	B2R9W8|Q2M3B3|Q9H4F5|Q9NS77|Q9NS78|Q9NS79	37	CCDS9669.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.217|9.217	1.032459|1.032459	0.19590|0.19590	.|.	.|.	ENSG00000092208|ENSG00000092208	ENST00000534684|ENST00000527381	.|.	.|.	.|.	6.03|6.03	1.83|1.83	0.25207|0.25207	.|.	.|.	.|.	.|.	.|.	T|T	0.57902|0.57902	0.2085|0.2085	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.51028|0.51028	-0.8757|-0.8757	4|4	.|.	.|.	.|.	-10.9514|-10.9514	9.2489|9.2489	0.37543|0.37543	0.4772:0.0:0.5228:0.0|0.4772:0.0:0.5228:0.0	.|.	.|.	.|.	.|.	T|N	99|93	.|.	.|.	A|S	+|+	1|2	0|0	GEMIN2|GEMIN2	38657010|38657010	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	0.338000|0.338000	0.19858|0.19858	0.339000|0.339000	0.23719|0.23719	-0.365000|-0.365000	0.07479|0.07479	GCA|AGC	GEMIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276730.2		+	ENST00000308317.6	Silent	SNP	14 : 39587259 - 39587259 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	205	38
C2orf40	84417	broad.mit.edu	37	2	106690369	106690369	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106690369C>T	ENST00000409944.1	+	4	278	c.47C>T	c.(46-48)gCc>gTc	p.A16V	C2orf40_ENST00000238044.3_Missense_Mutation_p.A52V|C2orf40_ENST00000489174.1_3'UTR			Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	52						extracellular region|transport vesicle				lung(7)|urinary_tract(1)	8						ACTAAAGTGGCCGTTGATGAG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	142	137			NA	NA	2		NA											NA				106690369		2203	4300	6503	SO:0001583	missense			BC021742	CCDS2072.1	2q12.2	2014-01-28			ENSG00000119147	ENSG00000119147	84417	84417			24642	protein-coding gene	gene with protein product	esophageal cancer related gene 4 protein	611752			NA	12800218	Standard	NM_032411	NM_032411	NA	Approved	ECRG4, augurin	uc010fjf.3	Q9H1Z8	OTTHUMG00000130921	ENST00000409944.1:c.47C>T	2.37:g.106690369C>T	ENSP00000386421:p.Ala16Val	NA	D3DVK2	37		.	.	.	.	.	.	.	.	.	.	C	14.63	2.591305	0.46214	.	.	ENSG00000119147	ENST00000409944;ENST00000238044;ENST00000437659	T;T;T	0.54479	0.57;0.57;0.57	5.62	5.62	0.85841	.	0.116585	0.64402	D	0.000016	T	0.62036	0.2395	L	0.51422	1.61	0.40866	D	0.983874	P	0.49559	0.925	P	0.52159	0.691	T	0.63042	-0.6725	10	0.52906	T	0.07	-18.6853	19.6614	0.95875	0.0:1.0:0.0:0.0	.	52	Q9H1Z8	AUGN_HUMAN	V	16;52;54	ENSP00000386421:A16V;ENSP00000238044:A52V;ENSP00000388664:A54V	ENSP00000238044:A52V	A	+	2	0	C2orf40	106056801	0.991000	0.36638	0.932000	0.37286	0.105000	0.19272	3.048000	0.49862	2.633000	0.89246	0.655000	0.94253	GCC	C2orf40-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000329791.1		+	ENST00000409944.1	Missense_Mutation	SNP	2 : 106690369 - 106690369 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1074	154
KRTAP4-5	85289	broad.mit.edu	37	17	39305727	39305727	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39305727G>A	ENST00000343246.4	-	1	327	c.293C>T	c.(292-294)cCc>cTc	p.P98L		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	103	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].					keratin filament				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			acagcagctggggcagcagca	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	25	23			NA	NA	17		NA											NA				39305727		2170	4246	6416	SO:0001583	missense			AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271	85289	85289		Keratin associated proteins	18899	protein-coding gene	gene with protein product					NA	11279113	Standard		NM_033188	NA	Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.293C>T	17.37:g.39305727G>A	ENSP00000340546:p.Pro98Leu	NA		37	CCDS32650.1	.	.	.	.	.	.	.	.	.	.	.	15.80	2.941052	0.53079	.	.	ENSG00000198271	ENST00000343246	T	0.02216	4.39	4.08	4.08	0.47627	.	0.729752	0.11113	U	0.598308	T	0.13500	0.0327	M	0.92367	3.3	0.22034	N	0.999404	P	0.48089	0.905	P	0.52823	0.71	T	0.04664	-1.0935	10	0.87932	D	0	.	14.1354	0.65284	0.0:0.0:1.0:0.0	.	103	Q9BYR2	KRA45_HUMAN	L	98	ENSP00000340546:P98L	ENSP00000340546:P98L	P	-	2	0	KRTAP4-5	36559253	0.994000	0.37717	0.084000	0.20598	0.608000	0.37181	2.373000	0.44266	2.243000	0.73865	0.561000	0.74099	CCC	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257783.1		-	ENST00000343246.4	Missense_Mutation	SNP	17 : 39305727 - 39305727 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	9
CCDC69	26112	broad.mit.edu	37	5	150581210	150581210	+	Missense_Mutation	SNP	C	C	T	rs140977954	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150581210C>T	ENST00000355417.2	-	3	338	c.164G>A	c.(163-165)cGg>cAg	p.R55Q	CCDC69_ENST00000521308.1_5'UTR	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	55										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTCTGGTGCCGCTCAGCCTC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	163	145	151		164	0.3	0.2	5	dbSNP_134	151	2,8598	1.2+/-3.3	0,2,4298	yes	missense	CCDC69	NM_015621.2	43	0,3,6500	TT,TC,CC	NA	0.0233,0.0227,0.0231	benign	55/297	150581210	3,13003	2203	4300	6503	SO:0001583	missense				CCDS4312.1	5q33.1	2008-02-05			ENSG00000198624	ENSG00000198624	26112	26112			24487	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_015621	NM_015621	NA	Approved	FLJ13705, DKFZP434C171	uc011dcq.3	A6NI79	OTTHUMG00000130127	ENST00000355417.2:c.164G>A	5.37:g.150581210C>T	ENSP00000347586:p.Arg55Gln	NA	A8K9X6	37	CCDS4312.1	.	.	.	.	.	.	.	.	.	.	C	2.981	-0.210283	0.06140	2.27E-4	2.33E-4	ENSG00000198624	ENST00000355417	T	0.20598	2.06	4.28	0.265	0.15612	.	0.987391	0.08243	N	0.975854	T	0.07413	0.0187	N	0.01576	-0.805	0.21355	N	0.999715	B	0.02656	0.0	B	0.01281	0.0	T	0.39542	-0.9609	10	0.23891	T	0.37	-12.4226	7.9704	0.30124	0.0:0.195:0.0:0.805	.	55	A6NI79	CCD69_HUMAN	Q	55	ENSP00000347586:R55Q	ENSP00000347586:R55Q	R	-	2	0	CCDC69	150561403	0.933000	0.31639	0.158000	0.22627	0.025000	0.11179	0.372000	0.20467	-0.012000	0.14223	-1.119000	0.02030	CGG	CCDC69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252435.1		-	ENST00000355417.2	Missense_Mutation	SNP	5 : 150581210 - 150581210 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	562	117
C11orf82	0	broad.mit.edu	37	11	82639965	82639965	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82639965C>T	ENST00000533655.1	+	4	472	c.260C>T	c.(259-261)gCc>gTc	p.A87V	C11orf82_ENST00000533750.1_3'UTR|C11orf82_ENST00000524921.1_Missense_Mutation_p.A87V|C11orf82_ENST00000430323.2_Missense_Mutation_p.A87V|C11orf82_ENST00000525361.1_Missense_Mutation_p.A87V|C11orf82_ENST00000525388.1_Missense_Mutation_p.A87V|C11orf82_ENST00000528759.1_Intron|C11orf82_ENST00000329143.3_Intron	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN		87					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						GGTCTTACTGCCACTGGTTTG	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	119	119			NA	NA	11		NA											NA				82639965		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000533655.1:c.260C>T	11.37:g.82639965C>T	ENSP00000435421:p.Ala87Val	NA	Q96LK6|Q9H856	37	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431538	0.83776	.	.	ENSG00000165490	ENST00000524921;ENST00000525361;ENST00000430323;ENST00000533655;ENST00000532764;ENST00000525388;ENST00000528262	T;T	0.53857	0.6;0.6	5.75	4.83	0.62350	Nucleic acid-binding, OB-fold-like (1);Replication factor A, C-terminal (1);Nucleic acid-binding, OB-fold (1);	0.111999	0.64402	D	0.000011	T	0.73241	0.3562	M	0.81239	2.535	0.41499	D	0.988277	D;D	0.89917	0.983;1.0	P;D	0.68192	0.808;0.956	T	0.77148	-0.2694	9	.	.	.	.	16.8517	0.85996	0.0:0.8715:0.1285:0.0	.	87;87	Q8IXT1-2;Q8IXT1	.;NOXIN_HUMAN	V	87;87;87;87;148;87;87	ENSP00000414687:A87V;ENSP00000435421:A87V	.	A	+	2	0	C11orf82	82317613	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.673000	0.68109	1.406000	0.46857	0.557000	0.71058	GCC	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391936.1		+	ENST00000533655.1	Missense_Mutation	SNP	11 : 82639965 - 82639965 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	454	74
CRNKL1	51340	broad.mit.edu	37	20	20016875	20016875	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20016875G>A	ENST00000377340.2	-	15	2542	c.2511C>T	c.(2509-2511)caC>caT	p.H837H	CRNKL1_ENST00000521379.1_5'UTR|CRNKL1_ENST00000377327.4_Silent_p.H825H|CRNKL1_ENST00000536226.1_Silent_p.H676H	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	837					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						CATCTGGATGGTGCTCAGCAT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	150	158			NA	NA	20		NA											NA				20016875		2203	4300	6503	SO:0001819	synonymous_variant			AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343	51340	51340			15762	protein-coding gene	gene with protein product	SYF3 pre-mRNA-splicing factor	610952	crooked neck (Drosophila Crn homolog)-like 1, Crn, crooked neck-like 1 (Drosophila), crooked neck pre-mRNA splicing factor-like 1 (Drosophila)		NA		Standard		NM_016652	NA	Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.2511C>T	20.37:g.20016875G>A		NA	A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	37	CCDS33446.1																																																																																			CRNKL1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000127787.1		-	ENST00000377340.2	Silent	SNP	20 : 20016875 - 20016875 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	709	102
ALPK3	57538	broad.mit.edu	37	15	85401163	85401163	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85401163G>A	ENST00000258888.5	+	6	3967	c.3800G>A	c.(3799-3801)gGt>gAt	p.G1267D		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1267					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGGGGTCCTGGTCCCAGCTCC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	15	16			NA	NA	15		NA											NA				85401163		2200	4290	6490	SO:0001583	missense			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383	57538	57538		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	17574	protein-coding gene	gene with protein product	myocyte induction differentiation originator, muscle alpha-kinase				NA	10021370	Standard	NM_020778	NM_020778	NA	Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.3800G>A	15.37:g.85401163G>A	ENSP00000258888:p.Gly1267Asp	NA	Q9P2L6	37	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	8.642	0.896135	0.17686	.	.	ENSG00000136383	ENST00000258888	T	0.61980	0.06	4.87	-0.919	0.10478	.	1.130040	0.06420	N	0.722229	T	0.45296	0.1335	L	0.32530	0.975	0.09310	N	1	P	0.48911	0.917	P	0.46049	0.502	T	0.35051	-0.9804	10	0.07644	T	0.81	-1.6914	1.0785	0.01638	0.1812:0.1478:0.3685:0.3026	.	1267	Q96L96	ALPK3_HUMAN	D	1267	ENSP00000258888:G1267D	ENSP00000258888:G1267D	G	+	2	0	ALPK3	83202167	0.000000	0.05858	0.013000	0.15412	0.029000	0.11900	-0.367000	0.07553	0.107000	0.17824	0.563000	0.77884	GGT	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000308997.1		+	ENST00000258888.5	Missense_Mutation	SNP	15 : 85401163 - 85401163 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	117	21
KIAA0430	9665	broad.mit.edu	37	16	15718648	15718648	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15718648C>T	ENST00000540441.2	-	9	1883	c.1819G>A	c.(1819-1821)Gca>Aca	p.A607T	KIAA0430_ENST00000548025.1_Missense_Mutation_p.A747T|KIAA0430_ENST00000344181.3_Missense_Mutation_p.A428T|KIAA0430_ENST00000602337.1_Missense_Mutation_p.A747T|KIAA0430_ENST00000551742.1_Missense_Mutation_p.A749T|KIAA0430_ENST00000396368.3_Missense_Mutation_p.A750T			Q9Y4F3	LKAP_HUMAN	KIAA0430	749						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GACTGAGATGCGAGCAGAGGA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	THR/ALA,THR/ALA,THR/ALA	0,3946		0,0,1973	115	121	119		2248,2239,2245	-7.6	0	16		119	1,8323		0,1,4161	no	missense,missense,missense	KIAA0430	NM_014647.3,NM_001184999.1,NM_001184998.1	58,58,58	0,1,6134	TT,TC,CC	NA	0.012,0.0,0.0081	benign,benign,benign	750/1743,747/1740,749/1743	15718648	1,12269	1973	4162	6135	SO:0001583	missense			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783	9665	9665		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	29562	protein-coding gene	gene with protein product	limkain b1, protein phosphatase 1, regulatory subunit 34, meiosis arrest female 1	614593			NA	9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647	NM_014647	NA	Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000540441.2:c.1819G>A	16.37:g.15718648C>T	ENSP00000439819:p.Ala607Thr	NA	A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|Q6P1R6|Q8WYR2|Q9Y4J9	37		.	.	.	.	.	.	.	.	.	.	C	5.147	0.212746	0.09757	0.0	1.2E-4	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	6.08	-7.59	0.01308	.	1.014950	0.07841	N	0.963039	T	0.09905	0.0243	N	0.01352	-0.895	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.44452	-0.9327	9	0.05959	T	0.93	.	12.1485	0.54036	0.1754:0.5963:0.0:0.2282	.	748;747;746;749	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	T	750;607;749;428;747;749;606	.	ENSP00000315718:A749T	A	-	1	0	KIAA0430	15626149	0.001000	0.12720	0.004000	0.12327	0.596000	0.36781	-0.766000	0.04725	-1.422000	0.02004	-1.083000	0.02208	GCA	KIAA0430-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000403737.1		-	ENST00000540441.2	Missense_Mutation	SNP	16 : 15718648 - 15718648 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	612	49
ABHD14A	25864	broad.mit.edu	37	3	52014483	52014483	+	Missense_Mutation	SNP	C	C	T	rs147658919		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52014483C>T	ENST00000491470.1	+	3	314				ABHD14A_ENST00000273596.3_Missense_Mutation_p.R158W|ACY1_ENST00000458031.2_Intron|ABHD14A-ACY1_ENST00000463937.1_Intron|ABHD14B_ENST00000483233.1_Intron			Q9BUJ0	ABHEA_HUMAN	abhydrolase domain containing 14A	NA						cytoplasm|integral to membrane	hydrolase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCGGGCGCTGCGGGACCTGGA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TRP/ARG	0,4406		0,0,2203	59	59	59		472	3.9	0	3	dbSNP_134	59	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABHD14A	NM_015407.4	101	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	158/272	52014483	1,13005	2203	4300	6503	SO:0001627	intron_variant			AY358201	CCDS2843.1	3p21.1	2011-02-14			ENSG00000248487	ENSG00000248487	25864	25864		Abhydrolase domain containing	24538	protein-coding gene	gene with protein product					NA		Standard	NM_015407	NM_015407	NA	Approved	DKFZP564O243, DORZ1	uc003dco.3	Q9BUJ0	OTTHUMG00000157818	ENST00000491470.1:c.282-369C>T	3.37:g.52014483C>T		NA	Q6UXU8|Q9Y3T7	37		.	.	.	.	.	.	.	.	.	.	C	13.15	2.152146	0.38021	0.0	1.16E-4	ENSG00000248487	ENST00000497864;ENST00000273596;ENST00000360889;ENST00000538216	T;T	0.35973	1.28;1.92	5.69	3.86	0.44501	.	0.985990	0.08284	N	0.969485	T	0.49525	0.1562	M	0.81682	2.555	0.51012	D	0.9999	D	0.63880	0.993	P	0.51229	0.663	T	0.44559	-0.9320	10	0.72032	D	0.01	-0.6127	5.0677	0.14591	0.1396:0.6:0.182:0.0784	.	158	Q9BUJ0	ABHEA_HUMAN	W	223;158;116;116	ENSP00000418242:R223W;ENSP00000273596:R158W	ENSP00000273596:R158W	R	+	1	2	ABHD14A	51989523	0.273000	0.24181	0.017000	0.16124	0.110000	0.19582	0.976000	0.29462	0.678000	0.31325	-0.251000	0.11542	CGG	ABHD14A-008	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000349696.1		+	ENST00000491470.1	Intron	SNP	3 : 52014483 - 52014483 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	112
HHIP	64399	broad.mit.edu	37	4	145573905	145573905	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:145573905A>G	ENST00000296575.3	+	2	1083	c.428A>G	c.(427-429)gAc>gGc	p.D143G	HHIP_ENST00000434550.2_Missense_Mutation_p.D143G|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000511314.1_3'UTR	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	143						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CTCTGCAAAGACTATTGCAAA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	130	127			NA	NA	4		NA											NA				145573905		2203	4300	6503	SO:0001583	missense			AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161	64399	64399			14866	protein-coding gene	gene with protein product		606178	hedgehog-interacting protein		NA	11435703, 11731473	Standard		NM_022475	NA	Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.428A>G	4.37:g.145573905A>G	ENSP00000296575:p.Asp143Gly	NA	Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	37	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.839939	0.91117	.	.	ENSG00000164161	ENST00000296575;ENST00000434550	T;T	0.78924	-1.22;-1.22	5.83	5.83	0.93111	Folate receptor-like (1);	0.043571	0.85682	D	0.000000	D	0.86781	0.6015	M	0.74881	2.28	0.80722	D	1	D;B	0.61697	0.99;0.291	D;B	0.63113	0.911;0.091	D	0.87923	0.2705	10	0.62326	D	0.03	-27.2646	16.2127	0.82178	1.0:0.0:0.0:0.0	.	143;143	Q96QV1;Q96QV1-2	HHIP_HUMAN;.	G	143	ENSP00000296575:D143G;ENSP00000408587:D143G	ENSP00000296575:D143G	D	+	2	0	HHIP	145793355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.236000	0.73375	0.533000	0.62120	GAC	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364887.2		+	ENST00000296575.3	Missense_Mutation	SNP	4 : 145573905 - 145573905 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	624	89
MYO15A	51168	broad.mit.edu	37	17	18054484	18054484	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18054484G>A	ENST00000205890.5	+	39	7872	c.7534G>A	c.(7534-7536)Gtg>Atg	p.V2512M		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2512	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGCCAAACCCGTGCTCCTGCG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/VAL	0,4012		0,0,2006	99	111	107		7534	5.2	1	17		107	2,8326		0,2,4162	yes	missense	MYO15A	NM_016239.3	21	0,2,6168	AA,AG,GG	NA	0.024,0.0,0.0162	probably-damaging	2512/3531	18054484	2,12338	2006	4164	6170	SO:0001583	missense			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536	51168	51168		Myosins / Myosin superfamily : Class XV	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15	NA	9603736	Standard	NM_016239	NM_016239	NA	Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.7534G>A	17.37:g.18054484G>A	ENSP00000205890:p.Val2512Met	NA		37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.685918	0.29962	0.0	2.4E-4	ENSG00000091536	ENST00000205890	D	0.88277	-2.36	5.25	5.25	0.73442	.	.	.	.	.	D	0.90645	0.7066	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	P	0.61722	0.893	D	0.90169	0.4234	9	0.54805	T	0.06	.	10.1994	0.43073	0.0917:0.0:0.9083:0.0	.	2512	Q9UKN7	MYO15_HUMAN	M	2512	ENSP00000205890:V2512M	ENSP00000205890:V2512M	V	+	1	0	MYO15A	17995209	1.000000	0.71417	0.958000	0.39756	0.201000	0.24016	4.002000	0.57053	2.608000	0.88229	0.655000	0.94253	GTG	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132048.1		+	ENST00000205890.5	Missense_Mutation	SNP	17 : 18054484 - 18054484 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1227	53
COL18A1	80781	broad.mit.edu	37	21	46908341	46908341	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46908341G>A	ENST00000359759.4	+	17	3172	c.3151G>A	c.(3151-3153)Ggc>Agc	p.G1051S	COL18A1_ENST00000400337.2_Missense_Mutation_p.G636S|COL18A1_ENST00000355480.5_Missense_Mutation_p.G816S			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1051	Triple-helical region 4 (COL4).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGGACCTCCCGGCCTGCCGGG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	101	97			NA	NA	21		NA											NA				46908341		1997	4142	6139	SO:0001583	missense				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871	80781	80781		Collagens	2195	protein-coding gene	gene with protein product	endostatin	120328	Knobloch syndrome, type 1	KNO	NA	8188291, 8776601, 10942434, 17546652	Standard		NM_130445	NA	Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.3151G>A	21.37:g.46908341G>A	ENSP00000352798:p.Gly1051Ser	NA	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	37		.	.	.	.	.	.	.	.	.	.	G	16.68	3.190930	0.58017	.	.	ENSG00000182871	ENST00000400337;ENST00000355480;ENST00000359759;ENST00000539645	D;D;D	0.99329	-5.75;-5.75;-5.75	3.39	2.48	0.30137	.	0.132732	0.49916	D	0.000132	D	0.99513	0.9826	H	0.98256	4.185	0.09310	N	0.999999	D;D;D	0.89917	1.0;1.0;0.996	D;D;P	0.67725	0.953;0.921;0.796	D	0.97195	0.9860	10	0.87932	D	0	.	7.9781	0.30166	0.0:0.0:0.7558:0.2442	.	1051;816;636	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	S	636;816;1051;1051	ENSP00000383191:G636S;ENSP00000347665:G816S;ENSP00000352798:G1051S	ENSP00000347665:G816S	G	+	1	0	COL18A1	45732769	0.903000	0.30736	0.009000	0.14445	0.097000	0.18754	3.660000	0.54496	0.763000	0.33175	0.650000	0.86243	GGC	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000206827.1		+	ENST00000359759.4	Missense_Mutation	SNP	21 : 46908341 - 46908341 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	597	50
ITSN1	6453	broad.mit.edu	37	21	35254750	35254750	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35254750G>A	ENST00000381318.3	+	35	4833	c.4545G>A	c.(4543-4545)atG>atA	p.M1515I	ITSN1_ENST00000399367.3_Missense_Mutation_p.M1510I|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381285.4_Missense_Mutation_p.M1515I|ITSN1_ENST00000437442.2_Missense_Mutation_p.M1454I	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1515	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGTATAAAATGTATAAAACAG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	48	48			NA	NA	21		NA											NA				35254750		2203	4300	6503	SO:0001583	missense			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726	6453	6453		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing, EF-hand domain containing	6183	protein-coding gene	gene with protein product	SH3 domain protein-1A, human intersectin-SH3 domain-containing protein SH3P17, Src homology 3 domain-containing protein, intersectin 1 short form variant, 11, intersectin 1 short form variant 3, intersectin short variant 12	602442		SH3D1A, ITSN	NA	9799604, 9813051	Standard	NM_003024	NM_003024	NA	Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.4545G>A	21.37:g.35254750G>A	ENSP00000370719:p.Met1515Ile	NA	O95216|Q1ED40|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	37	CCDS33545.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.033321|4.033321	0.75504|0.75504	.|.	.|.	ENSG00000205726|ENSG00000205726	ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000437442|ENST00000381284	T;T;T;T|.	0.61859|.	0.07;0.07;0.07;0.07|.	5.8|5.8	5.8|5.8	0.92144|0.92144	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73552|0.73552	0.3601|0.3601	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D;P;P|.	0.61080|.	0.989;0.943;0.943|.	D;D;D|.	0.75020|.	0.985;0.968;0.968|.	T|T	0.69343|0.69343	-0.5170|-0.5170	9|5	.|.	.|.	.|.	.|.	20.0545|20.0545	0.97645|0.97645	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1454;1510;1515|.	A8CTY3;A8CTX8;Q15811|.	.;.;ITSN1_HUMAN|.	I|I	1515;1515;1444;1510;1454|195	ENSP00000370719:M1515I;ENSP00000370685:M1515I;ENSP00000382301:M1510I;ENSP00000387377:M1454I|.	.|.	M|V	+|+	3|1	0|0	ITSN1|ITSN1	34176620|34176620	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	7.433000|7.433000	0.80362|0.80362	2.748000|2.748000	0.94277|0.94277	0.655000|0.655000	0.94253|0.94253	ATG|GTA	ITSN1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000140070.4		+	ENST00000381318.3	Missense_Mutation	SNP	21 : 35254750 - 35254750 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	169	41
FARP2	9855	broad.mit.edu	37	2	242415374	242415374	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242415374G>A	ENST00000264042.3	+	19	2404	c.2234G>A	c.(2233-2235)gGc>gAc	p.G745D		NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	745					axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GACCTGGTGGGCATAGAGAAC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	84	88			NA	NA	2		NA											NA				242415374		2203	4300	6503	SO:0001583	missense			AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607	9855	9855		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	16460	protein-coding gene	gene with protein product					NA	9872452, 12351724	Standard		NM_001282984	NA	Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.2234G>A	2.37:g.242415374G>A	ENSP00000264042:p.Gly745Asp	NA	Q53QM5|Q8WU27|Q9UFE7	37	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025654	0.75390	.	.	ENSG00000006607	ENST00000264042	T	0.51574	0.7	5.3	5.3	0.74995	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.72811	0.3507	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76820	-0.2818	10	0.66056	D	0.02	.	18.9488	0.92632	0.0:0.0:1.0:0.0	.	745	O94887	FARP2_HUMAN	D	745	ENSP00000264042:G745D	ENSP00000264042:G745D	G	+	2	0	FARP2	242064047	1.000000	0.71417	0.629000	0.29254	0.404000	0.30871	9.081000	0.94049	2.485000	0.83878	0.563000	0.77884	GGC	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323153.1		+	ENST00000264042.3	Missense_Mutation	SNP	2 : 242415374 - 242415374 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	282	42
P2RY1	5028	broad.mit.edu	37	3	152554451	152554451	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:152554451G>T	ENST00000305097.3	+	1	1716	c.880G>T	c.(880-882)Gca>Tca	p.A294S		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	294					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TCAGACCCCAGCAATGTGTGC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	111	111			NA	NA	3		NA											NA				152554451		2203	4300	6503	SO:0001583	missense			U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860	5028	5028		Purinergic receptors, GPCR / Class A : Purinergic receptors, P2Y	8539	protein-coding gene	gene with protein product		601167			NA	8579591	Standard	NM_002563	NM_002563	NA	Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.880G>T	3.37:g.152554451G>T	ENSP00000304767:p.Ala294Ser	NA		37	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	G	8.713	0.912569	0.17907	.	.	ENSG00000169860	ENST00000305097	T	0.66995	-0.24	5.58	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.318404	0.32204	N	0.006426	T	0.40094	0.1103	N	0.04043	-0.29	0.22142	N	0.999337	B	0.12013	0.005	B	0.19391	0.025	T	0.19679	-1.0298	10	0.08381	T	0.77	.	10.687	0.45850	0.0729:0.1321:0.795:0.0	.	294	P47900	P2RY1_HUMAN	S	294	ENSP00000304767:A294S	ENSP00000304767:A294S	A	+	1	0	P2RY1	154037141	1.000000	0.71417	0.993000	0.49108	0.975000	0.68041	5.233000	0.65337	1.360000	0.45960	-0.251000	0.11542	GCA	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356943.1		+	ENST00000305097.3	Missense_Mutation	SNP	3 : 152554451 - 152554451 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	526	88
TACR3	6870	broad.mit.edu	37	4	104577398	104577398	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:104577398C>A	ENST00000304883.2	-	3	981	c.841G>T	c.(841-843)Gga>Tga	p.G281*		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	281						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CAGGTATCTCCTGGGATTTCT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	138	138			NA	NA	4		NA											NA				104577398		2203	4300	6503	SO:0001587	stop_gained			M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836	6870	6870		GPCR / Class A : Tachykinin receptors	11528	protein-coding gene	gene with protein product	neurokinin beta receptor	162332			NA	1374246	Standard	NM_001059	NM_001059	NA	Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.841G>T	4.37:g.104577398C>A	ENSP00000303325:p.Gly281*	NA	Q0P510	37	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	C	39	7.817814	0.98507	.	.	ENSG00000169836	ENST00000304883	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	18.7975	0.92001	0.0:1.0:0.0:0.0	.	.	.	.	X	281	.	ENSP00000303325:G281X	G	-	1	0	TACR3	104796847	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	6.837000	0.75354	2.745000	0.94114	0.650000	0.86243	GGA	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253804.1		-	ENST00000304883.2	Nonsense_Mutation	SNP	4 : 104577398 - 104577398 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	560	112
UGT2B10	7365	broad.mit.edu	37	4	69682216	69682216	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69682216C>T	ENST00000265403.7	+	1	506	c.479C>T	c.(478-480)gCt>gTt	p.A160V	UGT2B10_ENST00000458688.2_Intron	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	160					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GAGCTGCTGGCTGAGCTATTT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(133;755 1763 25578 26334 46021)							NA				0													139	135	137			NA	NA	4		NA											NA				69682216		2202	4297	6499	SO:0001583	missense			X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181	7365	7365		UDP glucuronosyltransferases	12544	protein-coding gene	gene with protein product		600070	UDP glycosyltransferase 2 family, polypeptide B10		NA	8333863	Standard	NM_001075	NM_001075	NA	Approved		uc003hee.3	P36537		ENST00000265403.7:c.479C>T	4.37:g.69682216C>T	ENSP00000265403:p.Ala160Val	NA	A8K9M3|Q14CR8	37		.	.	.	.	.	.	.	.	.	.	c	17.94	3.510973	0.64522	.	.	ENSG00000109181	ENST00000265403	T	0.74421	-0.84	2.63	2.63	0.31362	.	0.000000	0.64402	U	0.000009	D	0.84456	0.5476	M	0.88377	2.95	0.80722	D	1	D	0.57571	0.98	P	0.59595	0.86	D	0.86687	0.1920	10	0.87932	D	0	.	10.7026	0.45937	0.0:1.0:0.0:0.0	.	160	P36537	UDB10_HUMAN	V	160	ENSP00000265403:A160V	ENSP00000265403:A160V	A	+	2	0	UGT2B10	69716805	1.000000	0.71417	0.275000	0.24674	0.013000	0.08279	6.485000	0.73625	1.309000	0.44985	0.184000	0.17185	GCT	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000365169.1		+	ENST00000265403.7	Missense_Mutation	SNP	4 : 69682216 - 69682216 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	781	129
AOC3	8639	broad.mit.edu	37	17	41004414	41004414	+	Missense_Mutation	SNP	G	G	A	rs150410758	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41004414G>A	ENST00000308423.2	+	1	1214	c.1054G>A	c.(1054-1056)Gtt>Att	p.V352I		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	352					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GATCTTTGACGTTCGCTTCCA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(3;192 220 10664 11501 16477)							NA				0								G	ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	70	68	68		1054	-1.3	0.9	17	dbSNP_134	68	0,8600		0,0,4300	yes	missense	AOC3	NM_003734.2	29	0,3,6500	AA,AG,GG	NA	0.0,0.0681,0.0231	benign	352/764	41004414	3,13003	2203	4300	6503	SO:0001583	missense			AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	8639	8639	1.4.3.21		550	protein-coding gene	gene with protein product	vascular adhesion protein 1	603735			NA	9653080, 8972912	Standard	NM_003734	NM_003734	NA	Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.1054G>A	17.37:g.41004414G>A	ENSP00000312326:p.Val352Ile	NA	B2RCI5|Q45F94	37	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	G	3.352	-0.132261	0.06753	6.81E-4	0.0	ENSG00000131471	ENST00000308423	T	0.04360	3.64	4.4	-1.33	0.09172	Copper amine oxidase, C-terminal (3);	0.348573	0.27896	N	0.017406	T	0.01523	0.0049	N	0.03281	-0.365	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.49934	-0.8886	10	0.06757	T	0.87	.	5.6195	0.17450	0.5422:0.1375:0.3203:0.0	.	352	Q16853	AOC3_HUMAN	I	352	ENSP00000312326:V352I	ENSP00000312326:V352I	V	+	1	0	AOC3	38257940	0.307000	0.24500	0.895000	0.35142	0.774000	0.43823	0.083000	0.14871	-0.216000	0.10048	0.591000	0.81541	GTT	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452444.1		+	ENST00000308423.2	Missense_Mutation	SNP	17 : 41004414 - 41004414 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	409	77
KMT2C	58508	broad.mit.edu	37	7	151842259	151842259	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151842259T>C	ENST00000262189.6	-	54	14371	c.14153A>G	c.(14152-14154)cAt>cGt	p.H4718R	KMT2C_ENST00000355193.2_Missense_Mutation_p.H4775R	NM_170606.2	NP_733751.2			lysine (K)-specific methyltransferase 2C	NA											NA						CCTCTTGACATGGGCACTCAT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	84	87			NA	NA	7		NA											NA				151842259		2203	4300	6503	SO:0001583	missense			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609	58508	58508		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	13726	protein-coding gene	gene with protein product		606833	myeloid/lymphoid or mixed-lineage leukemia 3	MLL3	NA	10819331	Standard		XM_005250026	NA	Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.14153A>G	7.37:g.151842259T>C	ENSP00000262189:p.His4718Arg	NA		37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.189627	0.57909	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877	D;D;D	0.88741	-1.76;-1.74;-2.42	5.34	5.34	0.76211	.	0.000000	0.46145	U	0.000304	D	0.90366	0.6985	L	0.38838	1.175	0.80722	D	1	D;D;D	0.67145	0.996;0.993;0.993	P;P;P	0.62184	0.852;0.899;0.899	D	0.89704	0.3907	10	0.36615	T	0.2	.	15.6055	0.76668	0.0:0.0:0.0:1.0	.	4718;3836;4775	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	R	4718;4775;1335	ENSP00000262189:H4718R;ENSP00000347325:H4775R;ENSP00000410411:H1335R	ENSP00000262189:H4718R	H	-	2	0	MLL3	151473192	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.257000	0.72480	2.152000	0.67230	0.533000	0.62120	CAT	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318887.3		-	ENST00000262189.6	Missense_Mutation	SNP	7 : 151842259 - 151842259 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	447	85
FAT4	79633	broad.mit.edu	37	4	126239005	126239005	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126239005A>G	ENST00000394329.3	+	1	1452	c.1439A>G	c.(1438-1440)tAc>tGc	p.Y480C		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	480	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGCAAGTGTACAGAGTGAAC	0.542		NA									OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	47	46			NA	NA	4		NA											NA				126239005		2197	4293	6490	SO:0001583	missense			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159	79633	79633		Cadherins / Cadherin-related	23109	protein-coding gene	gene with protein product	cadherin-related family member 11	612411	FAT tumor suppressor homolog 4 (Drosophila)		NA	15003449	Standard	NM_024582	NM_024582	NA	Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.1439A>G	4.37:g.126239005A>G	ENSP00000377862:p.Tyr480Cys	1548	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	14.36	2.511323	0.44660	.	.	ENSG00000196159	ENST00000394329	T	0.57595	0.39	4.66	3.49	0.39957	Cadherin (4);Cadherin-like (1);	0.000000	0.31859	U	0.006954	T	0.79034	0.4378	H	0.97465	4.01	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.80407	-0.1395	10	0.87932	D	0	.	7.4765	0.27378	0.8343:0.0:0.1657:0.0	.	480	Q6V0I7	FAT4_HUMAN	C	480	ENSP00000377862:Y480C	ENSP00000377862:Y480C	Y	+	2	0	FAT4	126458455	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.147000	0.58078	0.831000	0.34780	0.459000	0.35465	TAC	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256765.2		+	ENST00000394329.3	Missense_Mutation	SNP	4 : 126239005 - 126239005 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	211	38
FOXD4	2298	broad.mit.edu	37	9	118009	118009	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:118009G>A	ENST00000382500.2	-	1	408	c.111C>T	c.(109-111)gaC>gaT	p.D37D		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	37					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)		CCTCCTCCTCGTCTTCATCTT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	59	54			NA	NA	9		NA											NA				118009		2203	4300	6503	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.111C>T	9.37:g.118009G>A		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 : 118009 - 118009 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	747	117
RP1	6101	broad.mit.edu	37	8	55539291	55539291	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55539291A>C	ENST00000220676.1	+	4	2997	c.2849A>C	c.(2848-2850)aAt>aCt	p.N950T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	950					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGTAGCAATAATAGTTTTTCA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(91;1014 1389 7634 14542 40420)							NA				0													43	46	45			NA	NA	8		NA											NA				55539291		2203	4299	6502	SO:0001583	missense			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237	6101	6101			10263	protein-coding gene	gene with protein product		603937			NA	1783394	Standard	NM_006269	NM_006269	NA	Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2849A>C	8.37:g.55539291A>C	ENSP00000220676:p.Asn950Thr	NA		37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	7.822	0.718019	0.15372	.	.	ENSG00000104237	ENST00000220676	T	0.49432	0.78	5.67	-7.84	0.01196	.	1.146690	0.06426	N	0.723180	T	0.34221	0.0890	L	0.43152	1.355	0.09310	N	1	B	0.30763	0.294	B	0.27887	0.084	T	0.47983	-0.9074	10	0.72032	D	0.01	.	9.5623	0.39378	0.1535:0.1029:0.642:0.1016	.	950	P56715	RP1_HUMAN	T	950	ENSP00000220676:N950T	ENSP00000220676:N950T	N	+	2	0	RP1	55701844	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-1.341000	0.02647	-0.777000	0.04572	0.533000	0.62120	AAT	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378532.2		+	ENST00000220676.1	Missense_Mutation	SNP	8 : 55539291 - 55539291 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	337	50
ZNF516	9658	broad.mit.edu	37	18	74091237	74091237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74091237C>T	ENST00000443185.2	-	4	3150	c.2833G>A	c.(2833-2835)Gcc>Acc	p.A945T	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	945					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TTGCTATTGGCCGAGGGCTGC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	25	23			NA	NA	18		NA											NA				74091237		1775	3912	5687	SO:0001583	missense			D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493	9658	9658		Zinc fingers, C2H2-type	28990	protein-coding gene	gene with protein product		615114			NA	9039502	Standard	NM_014643	NM_014643	NA	Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.2833G>A	18.37:g.74091237C>T	ENSP00000394757:p.Ala945Thr	NA		37		.	.	.	.	.	.	.	.	.	.	C	0.077	-1.191499	0.01607	.	.	ENSG00000101493	ENST00000443185	T	0.09911	2.93	4.13	2.34	0.29019	.	1.899140	0.02400	N	0.080617	T	0.05547	0.0146	.	.	.	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.35375	-0.9791	9	0.11485	T	0.65	.	3.2019	0.06652	0.1866:0.502:0.0:0.3114	.	945	Q92618	ZN516_HUMAN	T	945	ENSP00000394757:A945T	ENSP00000394757:A945T	A	-	1	0	ZNF516	72220225	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.125000	0.15749	0.520000	0.28426	0.491000	0.48974	GCC	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding			-	ENST00000443185.2	Missense_Mutation	SNP	18 : 74091237 - 74091237 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	391	62
XAB2	56949	broad.mit.edu	37	19	7687725	7687725	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7687725G>T	ENST00000358368.4	-	10	1331	c.1294C>A	c.(1294-1296)Ctg>Atg	p.L432M	XAB2_ENST00000534844.1_Missense_Mutation_p.L429M	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	432					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						ACGCTTGCCAGGTCATCCACC	0.647		NA						Direct reversal of damage;Nucleotide excision repair (NER)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	59	65			NA	NA	19		NA											NA				7687725		2203	4300	6503	SO:0001583	missense			AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924	56949	56949			14089	protein-coding gene	gene with protein product	SYF1 homolog, RNA splicing factor (S. cerevisiae), SYF1 pre-mRNA-splicing factor	610850			NA	10944529	Standard	NM_020196	NM_020196	NA	Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.1294C>A	19.37:g.7687725G>T	ENSP00000351137:p.Leu432Met	NA	Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	37	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828483	0.71258	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.18960	2.18;2.18	5.36	2.88	0.33553	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.64402	D	0.000004	T	0.51346	0.1669	M	0.92169	3.28	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.59857	-0.7375	10	0.87932	D	0	-22.9572	9.4517	0.38729	0.2587:0.0:0.7413:0.0	.	432	Q9HCS7	SYF1_HUMAN	M	432;429	ENSP00000351137:L432M;ENSP00000438225:L429M	ENSP00000351137:L432M	L	-	1	2	XAB2	7593725	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.783000	0.55409	1.276000	0.44395	-0.140000	0.14226	CTG	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461021.1		-	ENST00000358368.4	Missense_Mutation	SNP	19 : 7687725 - 7687725 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	208	13
MSI1	4440	broad.mit.edu	37	12	120783401	120783401	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120783401T>G	ENST00000257552.2	-	14	1170	c.1082A>C	c.(1081-1083)tAc>tCc	p.Y361S		NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	361					nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTTCAGTGGTACCCATTGGT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	111	114			NA	NA	12		NA											NA				120783401		2203	4300	6503	SO:0001583	missense			AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13				4440	4440		RNA binding motif (RRM) containing	7330	protein-coding gene	gene with protein product		603328	Musashi (Drosophila) homolog 1, musashi homolog 1 (Drosophila)		NA	9790759	Standard	NM_002442	NM_002442	NA	Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.1082A>C	12.37:g.120783401T>G	ENSP00000257552:p.Tyr361Ser	NA	Q96PU0|Q96PU1|Q96PU2|Q96PU3	37	CCDS9196.1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.868890	0.72065	.	.	ENSG00000135097	ENST00000257552	T	0.39229	1.09	4.72	2.24	0.28232	.	0.000000	0.56097	D	0.000027	T	0.58409	0.2120	M	0.68952	2.095	0.51012	D	0.999903	D	0.89917	1.0	D	0.91635	0.999	T	0.57676	-0.7770	10	0.87932	D	0	.	9.8364	0.40971	0.2735:0.0:0.0:0.7265	.	361	O43347	MSI1H_HUMAN	S	361	ENSP00000257552:Y361S	ENSP00000257552:Y361S	Y	-	2	0	MSI1	119267784	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.455000	0.80726	0.276000	0.22118	0.454000	0.30748	TAC	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403629.1		-	ENST00000257552.2	Missense_Mutation	SNP	12 : 120783401 - 120783401 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	569	93
SLC9A3R2	9351	broad.mit.edu	37	16	2087936	2087936	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2087936C>T	ENST00000424542.2	+	7	1103	c.965C>T	c.(964-966)gCg>gTg	p.A322V	SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.A311V|SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.A216V|SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.A211V	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	322					protein complex assembly	apical plasma membrane|endomembrane system|nucleus	beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding			central_nervous_system(1)|endometrium(1)	2						AACAAGCGCGCGCCACAGATG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(69;105 1552 17724 23473)							NA				0													43	53	50			NA	NA	16		NA											NA				2087936		2116	4212	6328	SO:0001583	missense			AF004900	CCDS45382.1, CCDS45383.1, CCDS58407.1	16p13.3	2014-09-04	2012-03-22		ENSG00000065054	ENSG00000065054	9351	9351			11076	protein-coding gene	gene with protein product		606553	solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2, solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 2, solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2		NA	9054412, 9671706	Standard		NM_001130012	NA	Approved	SIP-1, TKA-1, NHERF-2, E3KARP	uc002coi.3	Q15599	OTTHUMG00000176956	ENST00000424542.2:c.965C>T	16.37:g.2087936C>T	ENSP00000408005:p.Ala322Val	NA	D3DU84|O00272|O00556|Q3KQY7	37	CCDS45382.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870517	0.72065	.	.	ENSG00000065054	ENST00000424542;ENST00000432365	T;T	0.55760	0.5;1.09	5.09	5.09	0.68999	EBP50, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.69878	0.3160	L	0.58810	1.83	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.949;0.994	T	0.71968	-0.4432	10	0.59425	D	0.04	-11.734	17.4642	0.87628	0.0:1.0:0.0:0.0	.	357;311;322	Q6NTG0;D3DU85;Q15599	.;.;NHRF2_HUMAN	V	322;311	ENSP00000408005:A322V;ENSP00000402857:A311V	ENSP00000408005:A322V	A	+	2	0	SLC9A3R2	2027937	1.000000	0.71417	0.939000	0.37840	0.365000	0.29674	7.125000	0.77193	2.377000	0.81083	0.491000	0.48974	GCG	SLC9A3R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434448.1		+	ENST00000424542.2	Missense_Mutation	SNP	16 : 2087936 - 2087936 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	119	19
QSER1	79832	broad.mit.edu	37	11	32955888	32955888	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32955888G>A	ENST00000399302.2	+	4	3032	c.2697G>A	c.(2695-2697)gtG>gtA	p.V899V	QSER1_ENST00000527788.1_Silent_p.V660V	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	899										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TCAGGCATGTGACTTCAGATT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	71	73			NA	NA	11		NA											NA				32955888		1875	4119	5994	SO:0001819	synonymous_variant			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749	79832	79832			26154	protein-coding gene	gene with protein product					NA		Standard	NM_024774	XM_006718323	NA	Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.2697G>A	11.37:g.32955888G>A		NA	Q6ZU30|Q6ZUR5	37	CCDS41631.1																																																																																			QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388448.1		+	ENST00000399302.2	Silent	SNP	11 : 32955888 - 32955888 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	372	62
RFWD3	55159	broad.mit.edu	37	16	74678318	74678318	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:74678318C>T	ENST00000361070.4	-	6	1118	c.1021G>A	c.(1021-1023)Gtc>Atc	p.V341I	RFWD3_ENST00000571750.1_Missense_Mutation_p.V341I	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	341					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						GCATAAAGGACGACAATGTCA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													222	193	203			NA	NA	16		NA											NA				74678318		2198	4300	6498	SO:0001583	missense			AK001382	CCDS32486.1	16q22.3	2013-01-09					55159	55159		WD repeat domain containing, RING-type (C3HC4) zinc fingers	25539	protein-coding gene	gene with protein product		614151			NA	21504906	Standard	NM_018124	XM_005256021	NA	Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.1021G>A	16.37:g.74678318C>T	ENSP00000354361:p.Val341Ile	NA	A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	37	CCDS32486.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398256	0.62177	.	.	ENSG00000168411	ENST00000361070	T	0.18338	2.22	5.93	5.93	0.95920	.	0.214399	0.39759	N	0.001263	T	0.24431	0.0592	M	0.64260	1.97	0.50039	D	0.999847	P	0.51791	0.948	B	0.41813	0.367	T	0.01111	-1.1448	10	0.39692	T	0.17	-17.5372	20.328	0.98708	0.0:1.0:0.0:0.0	.	341	Q6PCD5	RFWD3_HUMAN	I	341	ENSP00000354361:V341I	ENSP00000354361:V341I	V	-	1	0	RFWD3	73235819	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	2.167000	0.42415	2.802000	0.96397	0.561000	0.74099	GTC	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000436506.2		-	ENST00000361070.4	Missense_Mutation	SNP	16 : 74678318 - 74678318 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	853	202
HCRTR2	3062	broad.mit.edu	37	6	55128552	55128552	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55128552T>C	ENST00000370862.3	+	4	1030	c.694T>C	c.(694-696)Tac>Cac	p.Y232H		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	232					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TCTGGTGACATACATGGCACC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	117	125			NA	NA	6		NA											NA				55128552		2203	4300	6503	SO:0001583	missense			AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252	3062	3062		GPCR / Class A : Hypocretin (orexin) receptors	4849	protein-coding gene	gene with protein product		602393			NA	9491897	Standard		NM_001526	NA	Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.694T>C	6.37:g.55128552T>C	ENSP00000359899:p.Tyr232His	NA	Q5VTM0	37	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.608309	0.87258	.	.	ENSG00000137252	ENST00000370862	T	0.72505	-0.66	5.75	5.75	0.90469	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.88220	0.6378	H	0.96604	3.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92202	0.5769	10	0.87932	D	0	.	16.0445	0.80711	0.0:0.0:0.0:1.0	.	232;232	Q548Y0;O43614	.;OX2R_HUMAN	H	232	ENSP00000359899:Y232H	ENSP00000359899:Y232H	Y	+	1	0	HCRTR2	55236511	1.000000	0.71417	0.983000	0.44433	0.985000	0.73830	7.593000	0.82686	2.197000	0.70478	0.491000	0.48974	TAC	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043392.1		+	ENST00000370862.3	Missense_Mutation	SNP	6 : 55128552 - 55128552 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	210	47
EP400	57634	broad.mit.edu	37	12	132498065	132498065	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132498065G>A	ENST00000333577.4	+	19	3859	c.3750G>A	c.(3748-3750)ccG>ccA	p.P1250P	EP400_ENST00000389562.2_Silent_p.P1213P|EP400_ENST00000332482.4_Silent_p.P1177P|EP400_ENST00000389561.2_Silent_p.P1214P|EP400_ENST00000330386.6_Silent_p.P1214P			Q96L91	EP400_HUMAN	E1A binding protein p400	1250	Helicase ATP-binding.|Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCGACTCGCCGCTGCACAATA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	88	88			NA	NA	12		NA											NA				132498065		2203	4300	6503	SO:0001819	synonymous_variant			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495	57634	57634			11958	protein-coding gene	gene with protein product		606265	trinucleotide repeat containing 12	TNRC12	NA	9225980, 11509179	Standard	NM_015409	NM_015409	NA	Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.3750G>A	12.37:g.132498065G>A		NA	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	37																																																																																				EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding			+	ENST00000333577.4	Silent	SNP	12 : 132498065 - 132498065 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	569	128
C7orf25	79020	broad.mit.edu	37	7	42949837	42949837	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42949837C>T	ENST00000350427.4	-	2	938	c.663G>A	c.(661-663)caG>caA	p.Q221Q	C7orf25_ENST00000447342.1_Silent_p.Q221Q|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000431882.2_Silent_p.Q279Q|C7orf25_ENST00000438029.1_Silent_p.Q221Q			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	221										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						CTCTGGTCACCTGCAAAAGTT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	72	72			NA	NA	7		NA											NA				42949837		2203	4300	6503	SO:0001819	synonymous_variant			BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197	79020	79020			21703	protein-coding gene	gene with protein product					NA		Standard	NM_024054	NM_024054	NA	Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.663G>A	7.37:g.42949837C>T		NA	A4D1V2|Q9H779	37	CCDS5466.1																																																																																			C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250814.2		-	ENST00000350427.4	Silent	SNP	7 : 42949837 - 42949837 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	61
ZNF600	162966	broad.mit.edu	37	19	53270299	53270299	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53270299C>T	ENST00000338230.3	-	3	977	c.710G>A	c.(709-711)cGt>cAt	p.R237H		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		GTGAAGTCTACGATGGCATGT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(196;1235 2112 2375 33339 34207)							NA				0													174	166	169			NA	NA	19		NA											NA				53270299		2203	4300	6503	SO:0001583	missense			U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190	162966	162966		Zinc fingers, C2H2-type	30951	protein-coding gene	gene with protein product					NA	12576331	Standard	NM_198457	NM_198457	NA	Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.710G>A	19.37:g.53270299C>T	ENSP00000344791:p.Arg237His	NA	Q6MZR0	37	CCDS12856.1	.	.	.	.	.	.	.	.	.	.	.	7.585	0.669634	0.14776	.	.	ENSG00000189190	ENST00000338230	T	0.07688	3.17	1.62	-3.23	0.05109	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04952	0.0133	L	0.33339	1.005	0.09310	N	1	B	0.16396	0.017	B	0.10450	0.005	T	0.41233	-0.9520	9	0.40728	T	0.16	.	0.5747	0.00701	0.1747:0.2268:0.1752:0.4233	.	237	Q6ZNG1	ZN600_HUMAN	H	237	ENSP00000344791:R237H	ENSP00000344791:R237H	R	-	2	0	ZNF600	57962111	0.000000	0.05858	0.000000	0.03702	0.395000	0.30598	-0.889000	0.04144	-1.180000	0.02734	0.313000	0.20887	CGT	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463093.1		-	ENST00000338230.3	Missense_Mutation	SNP	19 : 53270299 - 53270299 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	947	192
GFAP	2670	broad.mit.edu	37	17	42985496	42985496	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42985496G>T	ENST00000253408.5	-	8	1258	c.1193C>A	c.(1192-1194)tCt>tAt	p.S398Y	GFAP_ENST00000588735.1_Intron	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	398	Tail.					cytoplasm|intermediate filament	structural constituent of cytoskeleton	p.S398C(1)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TTCTGACACAGACTTGGTGTC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	urinary_tract(1)	GRCh37	CM083521	GFAP	M							206	170	182			NA	NA	17		NA											NA				42985496		2203	4300	6503	SO:0001583	missense			S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16					2670	2670		Intermediate filaments type III	4235	protein-coding gene	gene with protein product	intermediate filament protein	137780			NA	9693047	Standard	NM_002055	NM_002055	NA	Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.1193C>A	17.37:g.42985496G>T	ENSP00000253408:p.Ser398Tyr	NA	B2RD44|D3DX59|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	37	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715042	0.68844	.	.	ENSG00000131095	ENST00000253408;ENST00000421021	D	0.97811	-4.55	5.23	5.23	0.72850	.	0.742362	0.13157	N	0.409394	D	0.95856	0.8651	L	0.27053	0.805	0.80722	D	1	P	0.45672	0.864	P	0.44597	0.454	D	0.94770	0.7944	10	0.38643	T	0.18	.	18.9902	0.92788	0.0:0.0:1.0:0.0	.	398	P14136	GFAP_HUMAN	Y	398;373	ENSP00000253408:S398Y	ENSP00000253408:S398Y	S	-	2	0	GFAP	40341022	0.999000	0.42202	0.996000	0.52242	0.981000	0.71138	7.074000	0.76791	2.735000	0.93741	0.549000	0.68633	TCT	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448701.1		-	ENST00000253408.5	Missense_Mutation	SNP	17 : 42985496 - 42985496 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	824	39
KCNJ16	3773	broad.mit.edu	37	17	68128301	68128301	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:68128301A>G	ENST00000585558.1	+	4	566	c.178A>G	c.(178-180)Att>Gtt	p.I60V	KCNJ16_ENST00000392670.1_Missense_Mutation_p.I25V|KCNJ16_ENST00000589377.1_Missense_Mutation_p.I25V|KCNJ16_ENST00000392671.1_Missense_Mutation_p.I25V|KCNJ16_ENST00000283936.1_Missense_Mutation_p.I25V|KCNJ16_ENST00000586462.1_Missense_Mutation_p.I64V			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	25					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					GCCAGAGCACATTATAGCTGA	0.453		NA											A	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	5e-04	SNP								NA				0													131	123	125			NA	NA	17		NA											NA				68128301		2203	4300	6503	SO:0001583	missense			AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822	3773	3773		Potassium channels, Voltage-gated ion channels / Potassium channels, Inwardly rectifying	6262	protein-coding gene	gene with protein product		605722			NA	11240146, 16382105	Standard	NM_018658	NM_018658	NA	Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000585558.1:c.178A>G	17.37:g.68128301A>G	ENSP00000465295:p.Ile60Val	NA		37		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	1.321	-0.599456	0.03744	.	.	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	D;D;D	0.88124	-2.34;-2.34;-2.34	5.99	-8.19	0.01049	.	1.981030	0.01750	N	0.029873	T	0.70815	0.3267	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.62793	-0.6779	9	.	.	.	.	9.4275	0.38590	0.2183:0.0992:0.5854:0.0971	.	25;25	A8K434;Q9NPI9	.;IRK16_HUMAN	V	25	ENSP00000283936:I25V;ENSP00000376439:I25V;ENSP00000376438:I25V	.	I	+	1	0	KCNJ16	65639896	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.346000	0.07760	-1.825000	0.01207	-0.248000	0.11899	ATT	KCNJ16-001	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000450884.1		+	ENST00000585558.1	Missense_Mutation	SNP	17 : 68128301 - 68128301 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	537	119
DOCK3	1795	broad.mit.edu	37	3	51399995	51399995	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51399995C>T	ENST00000266037.9	+	49	5206	c.5183C>T	c.(5182-5184)aCc>aTc	p.T1728I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1728						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GGCTCAGTCACCAACGTCTCT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	128	126			NA	NA	3		NA											NA				51399995		2099	4219	6318	SO:0001583	missense			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538	1795	1795			2989	protein-coding gene	gene with protein product		603123	dedicator of cyto-kinesis 3		NA	9205841	Standard	NM_004947	NM_004947	NA	Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5183C>T	3.37:g.51399995C>T	ENSP00000266037:p.Thr1728Ile	NA	O15017	37	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832503	0.50845	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.05139	3.49	5.26	5.26	0.73747	.	0.336637	0.33834	N	0.004503	T	0.07863	0.0197	L	0.40543	1.245	0.45427	D	0.998408	B	0.32968	0.392	B	0.31869	0.137	T	0.15350	-1.0440	10	0.56958	D	0.05	.	15.5861	0.76485	0.0:0.862:0.138:0.0	.	1728	Q8IZD9	DOCK3_HUMAN	I	1728;524	ENSP00000266037:T1728I	ENSP00000266037:T1728I	T	+	2	0	DOCK3	51375035	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.702000	0.54800	2.605000	0.88082	0.563000	0.77884	ACC	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346478.5		+	ENST00000266037.9	Missense_Mutation	SNP	3 : 51399995 - 51399995 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	279	51
NBEAL2	23218	broad.mit.edu	37	3	47047546	47047546	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47047546C>A	ENST00000450053.3	+	43	7091	c.6912C>A	c.(6910-6912)acC>acA	p.T2304T	NBEAL2_ENST00000292309.5_Silent_p.T2120T|NBEAL2_ENST00000383740.2_Silent_p.T583T	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2304	BEACH.						binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		ATTACTGCACCTATGAGGGTG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	67	63			NA	NA	3		NA											NA				47047546		2112	4230	6342	SO:0001819	synonymous_variant			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796	23218	23218		WD repeat domain containing	31928	protein-coding gene	gene with protein product		614169			NA		Standard	XM_291064	NM_015175	NA	Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.6912C>A	3.37:g.47047546C>A		NA	O60288|Q6P994|Q6UX91|Q8NAC9	37	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.020|8.020	0.759396|0.759396	0.15846|0.15846	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000443829|ENST00000416683	.|.	.|.	.|.	4.78|4.78	1.31|1.31	0.21738|0.21738	.|.	.|.	.|.	.|.	.|.	T|T	0.45256|0.45256	0.1333|0.1333	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.22277|0.22277	-1.0221|-1.0221	4|4	.|.	.|.	.|.	.|.	3.3935|3.3935	0.07298|0.07298	0.3228:0.4439:0.0:0.2333|0.3228:0.4439:0.0:0.2333	.|.	.|.	.|.	.|.	I|H	673|1592	.|.	.|.	L|P	+|+	1|2	2|0	NBEAL2|NBEAL2	47022550|47022550	0.003000|0.003000	0.15002|0.15002	0.997000|0.997000	0.53966|0.53966	0.971000|0.971000	0.66376|0.66376	-1.339000|-1.339000	0.02652|0.02652	0.049000|0.049000	0.15920|0.15920	0.561000|0.561000	0.74099|0.74099	CTA|CCT	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344363.3		+	ENST00000450053.3	Silent	SNP	3 : 47047546 - 47047546 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	445	89
NLRP13	126204	broad.mit.edu	37	19	56407480	56407480	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56407480G>A	ENST00000588751.1	-	11	2987	c.2963C>T	c.(2962-2964)gCg>gTg	p.A988V	NLRP13_ENST00000342929.3_Missense_Mutation_p.A988V			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	988							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATTGCATTTCGCCAACCTAGG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	80	80			NA	NA	19		NA											NA				56407480		2203	4300	6503	SO:0001583	missense			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572	126204	126204		Nucleotide-binding domain and leucine rich repeat containing	22937	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13	609660	NACHT, leucine rich repeat and PYD containing 13	NALP13	NA	12563287	Standard	NM_176810	NM_176810	NA	Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000588751.1:c.2963C>T	19.37:g.56407480G>A	ENSP00000467899:p.Ala988Val	NA	Q7RTR5	37		.	.	.	.	.	.	.	.	.	.	G	6.482	0.457029	0.12283	.	.	ENSG00000173572	ENST00000342929	T	0.53857	0.6	3.0	-2.83	0.05769	.	.	.	.	.	T	0.25044	0.0608	N	0.05574	-0.02	0.09310	N	1	P	0.39748	0.686	B	0.34138	0.176	T	0.18745	-1.0327	9	0.15066	T	0.55	.	11.3765	0.49730	0.0:0.0:0.7324:0.2676	.	988	Q86W25	NAL13_HUMAN	V	988	ENSP00000343891:A988V	ENSP00000343891:A988V	A	-	2	0	NLRP13	61099292	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.576000	0.05854	-0.373000	0.07979	-0.467000	0.05162	GCG	NLRP13-003	NOVEL	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000457461.1		-	ENST00000588751.1	Missense_Mutation	SNP	19 : 56407480 - 56407480 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	500	108
SLC7A4	6545	broad.mit.edu	37	22	21385522	21385522	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21385522G>T	ENST00000382932.2	-	2	647	c.580C>A	c.(580-582)Ctc>Atc	p.L194I	SLC7A4_ENST00000403586.1_Missense_Mutation_p.L194I	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	194					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GTGTGATTGAGCCAGGAGGAC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	59	60			NA	NA	22		NA											NA				21385522		2203	4300	6503	SO:0001583	missense			AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960	6545	6545		Solute carriers	11062	protein-coding gene	gene with protein product		603752	solute carrier family 7 (cationic amino acid transporter, y+ system), member 4, solute carrier family 7 (orphan transporter), member 4		NA	9598310, 11665818	Standard	NM_004173	NM_004173	NA	Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.580C>A	22.37:g.21385522G>T	ENSP00000372390:p.Leu194Ile	NA	Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	37	CCDS33608.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.230520	0.39399	.	.	ENSG00000099960	ENST00000403586;ENST00000382932	D;D	0.89552	-2.53;-2.53	5.28	1.93	0.25924	Amino acid permease domain (1);	0.204067	0.43110	D	0.000606	D	0.84543	0.5495	L	0.49455	1.56	0.42349	D	0.992363	B	0.25609	0.13	B	0.32211	0.142	T	0.76315	-0.3004	10	0.33940	T	0.23	.	9.0405	0.36314	0.0785:0.279:0.6425:0.0	.	194	O43246	CTR4_HUMAN	I	194	ENSP00000384278:L194I;ENSP00000372390:L194I	ENSP00000372390:L194I	L	-	1	0	SLC7A4	19715522	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	5.135000	0.64777	0.288000	0.22398	-0.258000	0.10820	CTC	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320467.1		-	ENST00000382932.2	Missense_Mutation	SNP	22 : 21385522 - 21385522 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	322	67
ITSN2	50618	broad.mit.edu	37	2	24533163	24533163	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24533163C>A	ENST00000355123.4	-	7	1086	c.643G>T	c.(643-645)Gga>Tga	p.G215*	ITSN2_ENST00000406921.3_Nonsense_Mutation_p.G215*|ITSN2_ENST00000361999.3_Nonsense_Mutation_p.G215*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	215					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTACTAGATCCTAAATCAATC	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													233	249	244			NA	NA	2		NA											NA				24533163		2203	4300	6503	SO:0001587	stop_gained			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399	50618	50618		Rho guanine nucleotide exchange factors, EF-hand domain containing	6184	protein-coding gene	gene with protein product	SH3 domain protein 1B, SH3P18-like WASP associated protein	604464	SH3 domain protein 1B	SH3D1B	NA	10922467, 11748279	Standard	NM_006277	NM_006277	NA	Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.643G>T	2.37:g.24533163C>A	ENSP00000347244:p.Gly215*	NA	O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	37	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	35	5.438748	0.96168	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011	.	.	.	4.97	4.09	0.47781	.	0.000000	0.32372	U	0.006187	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.4601	0.61223	0.1566:0.8434:0.0:0.0	.	.	.	.	X	215;215;215;214;215;215	.	ENSP00000347244:G215X	G	-	1	0	ITSN2	24386667	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.378000	0.66190	1.207000	0.43291	0.591000	0.81541	GGA	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207620.2		-	ENST00000355123.4	Nonsense_Mutation	SNP	2 : 24533163 - 24533163 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1775	254
SETD4	54093	broad.mit.edu	37	21	37410520	37410520	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37410520C>T	ENST00000399215.1	-	9	2488	c.1116G>A	c.(1114-1116)gaG>gaA	p.E372E	SETD4_ENST00000332131.4_Silent_p.E372E|AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000399212.1_Silent_p.E348E|SETD4_ENST00000481477.1_5'UTR			Q9NVD3	SETD4_HUMAN	SET domain containing 4	372				EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898).						autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						AACTTGTCTTCTCATTCGTAT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	173	175			NA	NA	21		NA											NA				37410520		2202	4300	6502	SO:0001819	synonymous_variant			AK001660	CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1	21q22.13	2006-02-15	2006-02-15	2006-02-15	ENSG00000185917	ENSG00000185917	54093	54093			1258	protein-coding gene	gene with protein product			chromosome 21 open reading frame 27, chromosome 21 open reading frame 18	C21orf27, C21orf18	NA		Standard	NM_017438	XM_005261000	NA	Approved		uc021wiy.1	Q9NVD3	OTTHUMG00000086483	ENST00000399215.1:c.1116G>A	21.37:g.37410520C>T		NA	B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	37	CCDS13640.1																																																																																			SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000194456.1		-	ENST00000399215.1	Silent	SNP	21 : 37410520 - 37410520 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	520	59
LAMB1	3912	broad.mit.edu	37	7	107626718	107626718	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107626718C>T	ENST00000393561.1	-	4	770	c.586G>A	c.(586-588)Gcc>Acc	p.A196T	LAMB1_ENST00000393560.1_Missense_Mutation_p.A172T|LAMB1_ENST00000222399.6_Missense_Mutation_p.A172T			P07942	LAMB1_HUMAN	laminin, beta 1	172	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.A172T(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGAAACGAGGCCTCACAGTCA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											107	104	105			NA	NA	7		NA											NA				107626718		2203	4300	6503	SO:0001583	missense			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136	3912	3912		Laminins	6486	protein-coding gene	gene with protein product		150240	cutis laxa with marfanoid phenotype	CLM	NA	2563160, 2704655, 1864606	Standard	NM_002291	NM_002291	NA	Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000393561.1:c.586G>A	7.37:g.107626718C>T	ENSP00000377191:p.Ala196Thr	NA	Q14D91	37		.	.	.	.	.	.	.	.	.	.	C	12.02	1.813822	0.32053	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.75367	-0.93;-0.93;-0.93	5.86	4.72	0.59763	Laminin, N-terminal (3);	.	.	.	.	T	0.52677	0.1749	N	0.04245	-0.25	0.25527	N	0.987313	B;B;B	0.10296	0.002;0.001;0.003	B;B;B	0.12837	0.007;0.008;0.002	T	0.39375	-0.9617	9	0.25106	T	0.35	.	11.2059	0.48769	0.0:0.0729:0.0:0.9271	.	172;172;196	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	T	196;172;172	ENSP00000377191:A196T;ENSP00000222399:A172T;ENSP00000377190:A172T	ENSP00000222399:A172T	A	-	1	0	LAMB1	107413954	0.363000	0.24989	1.000000	0.80357	0.476000	0.33039	-0.014000	0.12656	1.051000	0.40369	-0.302000	0.09304	GCC	LAMB1-003	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000314586.1		-	ENST00000393561.1	Missense_Mutation	SNP	7 : 107626718 - 107626718 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	493	72
APOB	338	broad.mit.edu	37	2	21226159	21226159	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21226159G>A	ENST00000233242.1	-	29	12262	c.12135C>T	c.(12133-12135)gtC>gtT	p.V4045V		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4045					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CAGATTCCCGGACCCTCAACT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													207	233	224			NA	NA	2		NA											NA				21226159		2203	4300	6503	SO:0001819	synonymous_variant			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674	338	338		Apolipoproteins	603	protein-coding gene	gene with protein product		107730	apolipoprotein B (including Ag(x) antigen)		NA		Standard		NM_000384	NA	Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12135C>T	2.37:g.21226159G>A		NA	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	37	CCDS1703.1																																																																																			APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207571.1		-	ENST00000233242.1	Silent	SNP	2 : 21226159 - 21226159 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2197	325
SSTR4	6754	broad.mit.edu	37	20	23016359	23016359	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23016359C>T	ENST00000255008.3	+	1	303	c.239C>T	c.(238-240)aCg>aTg	p.T80M	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	80					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	p.T80M(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AAGATGAAGACGGCTACCAAC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(15;850 1104 16640)							NA				1	Substitution - Missense(1)	large_intestine(1)											128	135	133			NA	NA	20		NA											NA				23016359		2203	4300	6503	SO:0001583	missense				CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671	6754	6754		GPCR / Class A : Somatostatin receptors	11333	protein-coding gene	gene with protein product		182454			NA	8483934	Standard		NM_001052	NA	Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.239C>T	20.37:g.23016359C>T	ENSP00000255008:p.Thr80Met	NA	Q17RM1|Q17RM3|Q9UIY1	37	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.223631	0.79576	.	.	ENSG00000132671	ENST00000255008	T	0.46819	0.86	3.58	3.58	0.41010	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000005	T	0.74222	0.3688	M	0.92970	3.365	0.58432	D	0.999995	D	0.89917	1.0	D	0.79784	0.993	T	0.82368	-0.0492	10	0.87932	D	0	.	14.3291	0.66541	0.0:1.0:0.0:0.0	.	80	P31391	SSR4_HUMAN	M	80	ENSP00000255008:T80M	ENSP00000255008:T80M	T	+	2	0	SSTR4	22964359	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.256000	0.65468	1.811000	0.52892	0.561000	0.74099	ACG	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078308.1		+	ENST00000255008.3	Missense_Mutation	SNP	20 : 23016359 - 23016359 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1065	184
BAG3	9531	broad.mit.edu	37	10	121429472	121429472	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121429472C>A	ENST00000369085.3	+	2	596	c.290C>A	c.(289-291)cCt>cAt	p.P97H		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	97					anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		ATTCCCATTCCTGTGCTCCAT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	127	127			NA	NA	10		NA											NA				121429472		2203	4300	6503	SO:0001583	missense			AF095193	CCDS7615.1	10q25.2-q26.2	2014-09-17			ENSG00000151929	ENSG00000151929	9531	9531			939	protein-coding gene	gene with protein product		603883			NA	9873016, 18094623	Standard	NM_004281	XM_005270287	NA	Approved		uc001lem.3	O95817	OTTHUMG00000019155	ENST00000369085.3:c.290C>A	10.37:g.121429472C>A	ENSP00000358081:p.Pro97His	NA	A8K5L8|Q3B763|Q9NT20|Q9P120	37	CCDS7615.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687358	0.88639	.	.	ENSG00000151929	ENST00000369085;ENST00000450186	D;D	0.91894	-1.85;-2.93	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.96027	0.8706	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96290	0.9213	10	0.87932	D	0	-10.6369	19.1934	0.93677	0.0:1.0:0.0:0.0	.	97;97	O95817;Q53GY1	BAG3_HUMAN;.	H	97;39	ENSP00000358081:P97H;ENSP00000410036:P39H	ENSP00000358081:P97H	P	+	2	0	BAG3	121419462	1.000000	0.71417	0.796000	0.32109	0.852000	0.48524	7.059000	0.76684	2.536000	0.85505	0.561000	0.74099	CCT	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050662.1		+	ENST00000369085.3	Missense_Mutation	SNP	10 : 121429472 - 121429472 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1073	65
ADAM32	203102	broad.mit.edu	37	8	39111964	39111964	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39111964C>T	ENST00000379907.4	+	18	2061	c.1934C>T	c.(1933-1935)tCg>tTg	p.S645L	ADAM32_ENST00000519315.1_Missense_Mutation_p.S539L|ADAM32_ENST00000437682.2_Missense_Mutation_p.S546L	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	645	EGF-like.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TGCCATTGTTCGCCAGGCTAT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	46	47			NA	NA	8		NA											NA				39111964		1831	4079	5910	SO:0001583	missense			BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140	203102	203102		ADAM metallopeptidase domain containing	15479	protein-coding gene	gene with protein product			a disintegrin and metalloproteinase domain 32		NA	12568724	Standard	NM_145004	NM_145004	NA	Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.1934C>T	8.37:g.39111964C>T	ENSP00000369238:p.Ser645Leu	NA	Q8TC42	37	CCDS47846.1	.	.	.	.	.	.	.	.	.	.	C	1.419	-0.573413	0.03882	.	.	ENSG00000197140	ENST00000437682;ENST00000519315;ENST00000379907	D;D;D	0.87491	-2.26;-2.26;-2.26	4.06	-7.54	0.01332	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	3.647890	0.01190	N	0.007305	T	0.80177	0.4575	M	0.66939	2.045	0.09310	N	1	P;P;B;B	0.52170	0.87;0.951;0.114;0.074	B;B;B;B	0.36092	0.101;0.217;0.011;0.031	T	0.75434	-0.3319	10	0.30078	T	0.28	.	5.7257	0.18013	0.5765:0.1463:0.0:0.2773	.	546;69;539;645	E7EPX8;Q6ZP86;E7ER82;Q8TC27	.;.;.;ADA32_HUMAN	L	546;539;645	ENSP00000405978:S546L;ENSP00000429422:S539L;ENSP00000369238:S645L	ENSP00000369238:S645L	S	+	2	0	ADAM32	39231121	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.431000	0.02432	-1.735000	0.01353	-0.314000	0.08810	TCG	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377089.1		+	ENST00000379907.4	Missense_Mutation	SNP	8 : 39111964 - 39111964 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	85	9
SNX14	57231	broad.mit.edu	37	6	86223854	86223854	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:86223854G>T	ENST00000314673.3	-	25	2667	c.2491C>A	c.(2491-2493)Ctt>Att	p.L831I	SNX14_ENST00000369627.2_Missense_Mutation_p.L822I|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000505648.1_Missense_Mutation_p.L779I|SNX14_ENST00000513865.1_Missense_Mutation_p.L550I|SNX14_ENST00000346348.3_Missense_Mutation_p.L778I	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	831					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TTACACTGAAGATAGTAATCA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	112	110			NA	NA	6		NA											NA				86223854		2203	4300	6503	SO:0001583	missense			AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317	57231	57231		Sorting nexins	14977	protein-coding gene	gene with protein product					NA	11485546, 11736640	Standard	NM_153816	XM_005248738	NA	Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.2491C>A	6.37:g.86223854G>T	ENSP00000313121:p.Leu831Ile	NA	B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	37	CCDS5004.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264596	0.40095	.	.	ENSG00000135317	ENST00000346348;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216	T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45	6.03	5.15	0.70609	Sorting nexin, C-terminal (1);	0.124399	0.56097	N	0.000029	T	0.05777	0.0151	N	0.21448	0.665	0.45899	D	0.998745	B;B;B;B	0.15473	0.007;0.013;0.009;0.007	B;B;B;B	0.19148	0.007;0.024;0.02;0.011	T	0.23940	-1.0174	10	0.02654	T	1	-7.3699	7.0157	0.24887	0.1384:0.0:0.7116:0.15	.	822;778;831;779	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	I	778;831;550;779;822;749	ENSP00000257769:L778I;ENSP00000313121:L831I;ENSP00000420938:L550I;ENSP00000427380:L779I;ENSP00000358641:L822I;ENSP00000425630:L749I	ENSP00000313121:L831I	L	-	1	0	SNX14	86280573	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.655000	0.46707	1.532000	0.49169	0.555000	0.69702	CTT	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041393.2		-	ENST00000314673.3	Missense_Mutation	SNP	6 : 86223854 - 86223854 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	21
TMED4	222068	broad.mit.edu	37	7	44621144	44621144	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44621144C>T	ENST00000289577.5	-	3	371	c.291G>A	c.(289-291)gaG>gaA	p.E97E	TMED4_ENST00000457408.2_Silent_p.E97E|TMED4_ENST00000481238.1_Silent_p.E97E|TMED4_ENST00000444131.2_5'UTR			Q7Z7H5	TMED4_HUMAN	transmembrane emp24 protein transport domain containing 4	97	GOLD.				positive regulation of I-kappaB kinase/NF-kappaB cascade|transport	endoplasmic reticulum membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TGAAGCGGCCCTCCGAGCCGT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	69	69			NA	NA	7		NA											NA				44621144		2203	4300	6503	SO:0001819	synonymous_variant			BC035467	CCDS5493.1	7p13	2004-12-21			ENSG00000158604	ENSG00000158604	222068	222068			22301	protein-coding gene	gene with protein product		612038			NA	12761501	Standard	NM_182547	NM_182547	NA	Approved	HNLF	uc003tli.3	Q7Z7H5	OTTHUMG00000129210	ENST00000289577.5:c.291G>A	7.37:g.44621144C>T		NA	A4D2K8|B4DFJ4|Q56VW3|Q7Z432|Q8N2P6	37																																																																																				TMED4-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000339388.1		-	ENST00000289577.5	Silent	SNP	7 : 44621144 - 44621144 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	526	88
NELL1	4745	broad.mit.edu	37	11	21581775	21581775	+	Silent	SNP	C	C	T	rs111554917		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:21581775C>T	ENST00000298925.5	+	18	2064	c.1911C>T	c.(1909-1911)aaC>aaT	p.N637N	NELL1_ENST00000357134.5_Silent_p.N609N|NELL1_ENST00000325319.5_Silent_p.N552N|NELL1_ENST00000532434.1_Silent_p.N562N|NELL1_ENST00000529218.1_Intron			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	609	VWFC 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CCTGTTGGAACGATTCTGCCT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	0,4406		0,0,2203	156	139	145		1827,1686	-0.5	1	11	dbSNP_132	145	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	NELL1	NM_006157.3,NM_201551.1	,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,	609/811,562/764	21581775	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973	4745	4745			7750	protein-coding gene	gene with protein product		602319	nel (chicken)-like 1		NA	8975702	Standard	NM_006157	NM_006157	NA	Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000298925.5:c.1911C>T	11.37:g.21581775C>T		NA	B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	37																																																																																				NELL1-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000387587.1		+	ENST00000298925.5	Silent	SNP	11 : 21581775 - 21581775 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	733	125
TBX21	30009	broad.mit.edu	37	17	45811195	45811195	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45811195C>T	ENST00000177694.1	+	1	586	c.375C>T	c.(373-375)taC>taT	p.Y125Y		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	125					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						GTGAGGACTACGCGCTACCCG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	13	12			NA	NA	17		NA											NA				45811195		1874	4094	5968	SO:0001819	synonymous_variant			AF093098	CCDS11514.1	17q21.2	2008-06-23				ENSG00000073861	30009	30009		T-boxes	11599	protein-coding gene	gene with protein product		604895			NA		Standard	NM_013351	NM_013351	NA	Approved	TBLYM, T-bet	uc002ilv.1	Q9UL17		ENST00000177694.1:c.375C>T	17.37:g.45811195C>T		NA		37	CCDS11514.1																																																																																			TBX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000441365.1		+	ENST00000177694.1	Silent	SNP	17 : 45811195 - 45811195 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	94	23
CTSO	1519	broad.mit.edu	37	4	156849530	156849530	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156849530C>T	ENST00000433477.3	-	7	958	c.889G>A	c.(889-891)Gta>Ata	p.V297I		NM_001334.2	NP_001325.1	P43234	CATO_HUMAN	cathepsin O	297					proteolysis	lysosome	cysteine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		TAACCATCTACTCCCCAAGAA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(148;2303 2598 8989 35298)							NA				0													108	101	103			NA	NA	4		NA											NA				156849530		2203	4300	6503	SO:0001583	missense			X77383	CCDS3794.1	4q32.1	2012-10-03			ENSG00000256043	ENSG00000256043	1519	1519		Cathepsins	2542	protein-coding gene	gene with protein product		600550		CTSO1	NA	9790772	Standard	NM_001334	NM_001334	NA	Approved		uc003ipg.3	P43234	OTTHUMG00000161942	ENST00000433477.3:c.889G>A	4.37:g.156849530C>T	ENSP00000414904:p.Val297Ile	NA		37	CCDS3794.1	.	.	.	.	.	.	.	.	.	.	C	3.991	-0.004456	0.07773	.	.	ENSG00000256043	ENST00000433477	T	0.28895	1.59	5.32	1.38	0.22167	Peptidase C1A, papain C-terminal (2);	0.587842	0.18013	N	0.154497	T	0.12475	0.0303	N	0.04203	-0.255	0.09310	N	1	B	0.06786	0.001	B	0.18263	0.021	T	0.22556	-1.0213	10	0.33940	T	0.23	.	5.6985	0.17869	0.0:0.4893:0.1324:0.3784	.	297	P43234	CATO_HUMAN	I	297	ENSP00000414904:V297I	ENSP00000281527:V297I	V	-	1	0	CTSO	157068980	0.017000	0.18338	0.379000	0.26080	0.938000	0.57974	0.020000	0.13466	-0.053000	0.13289	-0.142000	0.14014	GTA	CTSO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366469.1		-	ENST00000433477.3	Missense_Mutation	SNP	4 : 156849530 - 156849530 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	447	80
PRKDC	5591	broad.mit.edu	37	8	48701608	48701608	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:48701608A>G	ENST00000523565.1	-	0	10816				PRKDC_ENST00000314191.2_Silent_p.D3586D|PRKDC_ENST00000338368.3_Silent_p.D3586D			P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	NA					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CATTGCTCCAATCCTGTCAGG	0.343		NA						Non-homologous end-joining						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(79;1091 1253 12329 31680 40677)							NA				0													67	61	63			NA	NA	8		NA											NA				48701608		1801	4067	5868	SO:0001623	5_prime_UTR_variant				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	5591	5591	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1	NA	7638222	Standard	NM_001081640	NM_001081640	NA	Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000523565.1:c.-2692T>C	8.37:g.48701608A>G		NA	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	37																																																																																				PRKDC-002	KNOWN	basic	processed_transcript	NA	protein_coding	OTTHUMT00000377896.1		-	ENST00000523565.1	5'UTR	SNP	8 : 48701608 - 48701608 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	205	48
SLC44A2	57153	broad.mit.edu	37	19	10746125	10746125	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10746125C>T	ENST00000586078.1	+	14	1276	c.1167C>T	c.(1165-1167)aaC>aaT	p.N389N	SLC44A2_ENST00000407327.4_Silent_p.N387N|SLC44A2_ENST00000335757.5_Silent_p.N389N	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	389					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CCACTTCCAACGAAGCGGTCT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	144	142			NA	NA	19		NA											NA				10746125		2203	4300	6503	SO:0001819	synonymous_variant			AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353	57153	57153		Solute carriers	17292	protein-coding gene	gene with protein product		606106			NA	10677542, 15715662	Standard		NM_001145056	NA	Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000586078.1:c.1167C>T	19.37:g.10746125C>T		NA	B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	37																																																																																				SLC44A2-003	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000452048.1		+	ENST00000586078.1	Silent	SNP	19 : 10746125 - 10746125 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	871	154
DNAH3	55567	broad.mit.edu	37	16	21098312	21098312	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21098312T>G	ENST00000261383.3	-	19	2734	c.2735A>C	c.(2734-2736)aAa>aCa	p.K912T	DNAH3_ENST00000415178.1_Missense_Mutation_p.K912T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	912	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTGATCAGTTTATACGTTGT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													245	220	229			NA	NA	16		NA											NA				21098312		2201	4300	6501	SO:0001583	missense			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486	55567	55567		Axonemal dyneins	2949	protein-coding gene	gene with protein product		603334	dynein, axonemal, heavy polypeptide 3		NA	9256245, 9373155	Standard	NM_017539	NM_017539	NA	Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.2735A>C	16.37:g.21098312T>G	ENSP00000261383:p.Lys912Thr	NA	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	16.92	3.255099	0.59321	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.63417	-0.04;-0.04	5.58	5.58	0.84498	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.81356	0.4805	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84403	0.0561	10	0.66056	D	0.02	.	15.7487	0.77967	0.0:0.0:0.0:1.0	.	912	Q8TD57	DYH3_HUMAN	T	912	ENSP00000261383:K912T;ENSP00000394245:K912T	ENSP00000261383:K912T	K	-	2	0	DNAH3	21005813	1.000000	0.71417	0.582000	0.28627	0.133000	0.20885	7.576000	0.82467	2.126000	0.65437	0.533000	0.62120	AAA	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207361.1		-	ENST00000261383.3	Missense_Mutation	SNP	16 : 21098312 - 21098312 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	923	174
ALS2	57679	broad.mit.edu	37	2	202625825	202625825	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202625825C>A	ENST00000264276.6	-	4	1264	c.892G>T	c.(892-894)Gat>Tat	p.D298Y	ALS2_ENST00000467448.1_Missense_Mutation_p.D298Y	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	298					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						ACAGACTGATCATTTGCTACA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	165	168			NA	NA	2		NA											NA				202625825		2052	4212	6264	SO:0001583	missense			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393	57679	57679		Rho guanine nucleotide exchange factors	443	protein-coding gene	gene with protein product	alsin	606352	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6	ALS2CR6	NA	11586298	Standard	NM_020919	NM_020919	NA	Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.892G>T	2.37:g.202625825C>A	ENSP00000264276:p.Asp298Tyr	NA	Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	37	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184637	0.38609	.	.	ENSG00000003393	ENST00000264276;ENST00000467448	T;T	0.57907	0.37;0.72	6.17	3.3	0.37823	.	1.271760	0.05014	N	0.471553	T	0.38772	0.1053	N	0.22421	0.69	0.20873	N	0.999837	P;B;B;B	0.37636	0.603;0.091;0.016;0.0	B;B;B;B	0.33042	0.157;0.029;0.009;0.0	T	0.35425	-0.9789	10	0.66056	D	0.02	.	6.7842	0.23664	0.0:0.6066:0.2313:0.1621	.	298;298;298;298	Q96Q42-2;Q96Q42-3;Q6IQ41;Q96Q42	.;.;.;ALS2_HUMAN	Y	298	ENSP00000264276:D298Y;ENSP00000429223:D298Y	ENSP00000264276:D298Y	D	-	1	0	ALS2	202334070	0.002000	0.14202	0.002000	0.10522	0.002000	0.02628	1.189000	0.32114	0.951000	0.37770	0.655000	0.94253	GAT	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335562.3		-	ENST00000264276.6	Missense_Mutation	SNP	2 : 202625825 - 202625825 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	847	204
NBPF3	84224	broad.mit.edu	37	1	21771700	21771700	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21771700C>T	ENST00000342104.5	+	2	445	c.121C>T	c.(121-123)Cga>Tga	p.R41*	NBPF3_ENST00000318249.5_Nonsense_Mutation_p.R41*|NBPF3_ENST00000454000.2_Nonsense_Mutation_p.R41*|NBPF3_ENST00000318220.6_5'UTR|NBPF3_ENST00000478653.2_3'UTR	NM_001256416.1	NP_001243345.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	41						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCAAGAGCTGCGAGATCCAAC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	stop/ARG	0,4406		0,0,2203	41	42	42		121	0.7	0	1		42	1,8599		0,1,4299	no	stop-gained	NBPF3	NM_032264.2		0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077		41/634	21771700	1,13005	2203	4300	6503	SO:0001587	stop_gained			BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794	84224	84224		neuroblastoma breakpoint family	25076	protein-coding gene	gene with protein product		612992			NA	11230166, 16079250	Standard	NM_032264	NM_032264	NA	Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000342104.5:c.121C>T	1.37:g.21771700C>T	ENSP00000340336:p.Arg41*	NA	A8K965|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	37	CCDS57976.1	.	.	.	.	.	.	.	.	.	.	.	33	5.226067	0.95173	0.0	1.16E-4	ENSG00000142794	ENST00000454000;ENST00000318249;ENST00000342104	.	.	.	0.717	0.717	0.18196	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	4.8957	0.13749	0.0:1.0:0.0:0.0	.	.	.	.	X	41	.	ENSP00000316782:R41X	R	+	1	2	NBPF3	21644287	0.029000	0.19370	0.008000	0.14137	0.311000	0.27955	0.522000	0.22909	0.712000	0.32039	0.271000	0.19318	CGA	NBPF3-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000008193.1		+	ENST00000342104.5	Nonsense_Mutation	SNP	1 : 21771700 - 21771700 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	255	17
NALCN	259232	broad.mit.edu	37	13	101735213	101735213	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101735213T>C	ENST00000251127.6	-	33	3793	c.3712A>G	c.(3712-3714)Acc>Gcc	p.T1238A		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1238						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAAGGTACGGTCACCGGGTCC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	113	117			NA	NA	13		NA											NA				101735213		2203	4300	6503	SO:0001583	missense			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452	259232	259232		Ion channels / Sodium leak channels, non-selective	19082	protein-coding gene	gene with protein product		611549	voltage gated channel like 1	VGCNL1	NA	17448995	Standard	NM_052867	XM_006719943	NA	Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3712A>G	13.37:g.101735213T>C	ENSP00000251127:p.Thr1238Ala	NA	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	T	14.74	2.625989	0.46840	.	.	ENSG00000102452	ENST00000251127	D	0.97430	-4.38	5.64	5.64	0.86602	.	0.048760	0.85682	D	0.000000	D	0.95818	0.8639	L	0.57536	1.79	0.80722	D	1	B	0.22003	0.063	B	0.27715	0.082	D	0.93815	0.7113	10	0.41790	T	0.15	.	15.8512	0.78934	0.0:0.0:0.0:1.0	.	1238	Q8IZF0	NALCN_HUMAN	A	1238	ENSP00000251127:T1238A	ENSP00000251127:T1238A	T	-	1	0	NALCN	100533214	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	7.613000	0.82986	2.137000	0.66172	0.528000	0.53228	ACC	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045663.2		-	ENST00000251127.6	Missense_Mutation	SNP	13 : 101735213 - 101735213 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	348	17
SLC30A1	7779	broad.mit.edu	37	1	211749594	211749594	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:211749594T>C	ENST00000367001.4	-	2	789	c.660A>G	c.(658-660)gtA>gtG	p.V220V		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	220					cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	integral to membrane|T-tubule	calcium channel inhibitor activity|zinc ion transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		CATTCACTTGTACTTCCACTG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	41	39			NA	NA	1		NA											NA				211749594		2110	4069	6179	SO:0001819	synonymous_variant			AF323590	CCDS1499.1	1q32.3	2013-05-22			ENSG00000170385	ENSG00000170385	7779	7779		Solute carriers	11012	protein-coding gene	gene with protein product		609521		ZNT1	NA		Standard		NM_021194	NA	Approved	ZRC1	uc001hio.1	Q9Y6M5	OTTHUMG00000036995	ENST00000367001.4:c.660A>G	1.37:g.211749594T>C		NA	Q0VAK9|Q9BZF6	37	CCDS1499.1																																																																																			SLC30A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000104738.2		-	ENST00000367001.4	Silent	SNP	1 : 211749594 - 211749594 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	385	82
RFPL4B	442247	broad.mit.edu	37	6	112671386	112671386	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112671386C>T	ENST00000441065.2	+	3	788	c.476C>T	c.(475-477)tCc>tTc	p.S159F		NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	159	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		AAGTCATGGTCCCTGGGCGTC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	75	74			NA	NA	6		NA											NA				112671386		2203	4300	6503	SO:0001583	missense			AK122906	CCDS34515.1	6q21	2007-04-24			ENSG00000251258	ENSG00000251258	442247	442247		RING-type (C3HC4) zinc fingers	33264	protein-coding gene	gene with protein product					NA		Standard	NM_001013734	NM_001013734	NA	Approved	RNF211	uc003pvx.1	Q6ZWI9	OTTHUMG00000015390	ENST00000441065.2:c.476C>T	6.37:g.112671386C>T	ENSP00000423391:p.Ser159Phe	NA	A2RU91	37	CCDS34515.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.552209	0.45487	.	.	ENSG00000251258	ENST00000441065	T	0.70282	-0.47	4.14	3.27	0.37495	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.779066	0.10503	N	0.667099	T	0.52008	0.1708	L	0.35487	1.065	0.09310	N	1	D	0.62365	0.991	P	0.56163	0.793	T	0.33979	-0.9847	10	0.26408	T	0.33	.	5.4047	0.16314	0.1975:0.7003:0.0:0.1021	.	159	Q6ZWI9	RFPLB_HUMAN	F	159	ENSP00000423391:S159F	ENSP00000423391:S159F	S	+	2	0	RFPL4B	112778079	0.000000	0.05858	0.043000	0.18650	0.064000	0.16182	0.069000	0.14552	1.342000	0.45619	0.655000	0.94253	TCC	RFPL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041885.2		+	ENST00000441065.2	Missense_Mutation	SNP	6 : 112671386 - 112671386 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	387	52
PCOLCE2	26577	broad.mit.edu	37	3	142537272	142537272	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142537272C>T	ENST00000485766.1	-	0	916				PCOLCE2_ENST00000295992.3_Missense_Mutation_p.D385N			Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	NA						extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						CCTCGCCCATCTTCACCTACT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	106	109			NA	NA	3		NA											NA				142537272		2203	4300	6503	SO:0001624	3_prime_UTR_variant			AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710	26577	26577			8739	protein-coding gene	gene with protein product		607064			NA	10873381	Standard	NM_013363	NM_013363	NA	Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000485766.1:c.*2G>A	3.37:g.142537272C>T		NA	B2RCH9|D3DNG4|Q9BRH3	37		.	.	.	.	.	.	.	.	.	.	C	29.4	5.004047	0.93287	.	.	ENSG00000163710	ENST00000295992	T	0.30981	1.51	5.06	5.06	0.68205	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.099828	0.64402	D	0.000002	T	0.31482	0.0798	L	0.48642	1.525	0.80722	D	1	B	0.19583	0.037	B	0.28305	0.088	T	0.09271	-1.0682	10	0.16420	T	0.52	-22.7218	18.4156	0.90568	0.0:1.0:0.0:0.0	.	385	Q9UKZ9	PCOC2_HUMAN	N	385	ENSP00000295992:D385N	ENSP00000295992:D385N	D	-	1	0	PCOLCE2	144019962	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.978000	0.76147	2.351000	0.79841	0.655000	0.94253	GAT	PCOLCE2-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000354512.1		-	ENST00000485766.1	3'UTR	SNP	3 : 142537272 - 142537272 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	386	104
STC1	6781	broad.mit.edu	37	8	23709021	23709021	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23709021G>T	ENST00000524323.1	-	3	432	c.78C>A	c.(76-78)agC>agA	p.S26R	STC1_ENST00000290271.2_Missense_Mutation_p.S95R			P52823	STC1_HUMAN	stanniocalcin 1	95					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TGCATTTTAAGCTCTCTTTGA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	100	105			NA	NA	8		NA											NA				23709021		2203	4300	6503	SO:0001583	missense				CCDS6043.1	8p22-p12	2008-06-23			ENSG00000159167	ENSG00000159167	6781	6781			11373	protein-coding gene	gene with protein product		601185		STC	NA	9480753	Standard		NM_003155	NA	Approved		uc003xdw.1	P52823	OTTHUMG00000097853	ENST00000524323.1:c.78C>A	8.37:g.23709021G>T	ENSP00000427932:p.Ser26Arg	NA		37		.	.	.	.	.	.	.	.	.	.	G	21.4	4.141956	0.77775	.	.	ENSG00000159167	ENST00000290271;ENST00000540277;ENST00000524323	.	.	.	5.75	3.95	0.45737	.	0.034660	0.85682	D	0.000000	T	0.66046	0.2750	L	0.51914	1.62	0.58432	D	0.999996	D	0.67145	0.996	P	0.62491	0.903	T	0.68857	-0.5298	9	0.72032	D	0.01	-3.9207	11.4007	0.49868	0.1487:0.0:0.8513:0.0	.	95	P52823	STC1_HUMAN	R	95;26;26	.	ENSP00000290271:S95R	S	-	3	2	STC1	23764966	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.695000	0.47043	1.446000	0.47643	0.655000	0.94253	AGC	STC1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000376073.1		-	ENST00000524323.1	Missense_Mutation	SNP	8 : 23709021 - 23709021 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	47
KIAA1549	57670	broad.mit.edu	37	7	138529203	138529203	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138529203C>T	ENST00000440172.1	-	18	5359	c.5311G>A	c.(5311-5313)Ggt>Agt	p.G1771S	KIAA1549_ENST00000422774.1_Missense_Mutation_p.G1771S|KIAA1549_ENST00000242365.4_Missense_Mutation_p.G1721S	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1771						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGCAGCAAACCGGGGCCAAAA	0.592		NA	O	BRAF	pilocytic astrocytoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(119;1534 1718 44213 46230 50068)		Dom	yes		7	7q34	57670	KIAA1549		O	0													17	21	20			NA	NA	7		NA											NA				138529203		2033	4171	6204	SO:0001583	missense				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778	57670	57670			22219	protein-coding gene	gene with protein product		613344			NA		Standard		NM_020910	NA	Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000440172.1:c.5311G>A	7.37:g.138529203C>T	ENSP00000406661:p.Gly1771Ser	NA	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	37	CCDS47723.2	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533405	0.45073	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.21734	2.0;2.01;1.99	5.56	3.77	0.43336	.	0.502498	0.23180	N	0.051023	T	0.11922	0.0290	L	0.41710	1.295	0.36620	D	0.875696	P;B;P;B	0.51449	0.909;0.057;0.945;0.057	B;B;B;B	0.34489	0.09;0.007;0.184;0.007	T	0.14952	-1.0454	10	0.07175	T	0.84	.	10.9538	0.47345	0.0:0.8478:0.0:0.1522	.	1771;555;1771;555	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	S	1771;1721;1771	ENSP00000406661:G1771S;ENSP00000242365:G1721S;ENSP00000416040:G1771S	ENSP00000242365:G1721S	G	-	1	0	KIAA1549	138179743	0.200000	0.23398	0.220000	0.23810	0.830000	0.47004	1.338000	0.33873	0.736000	0.32559	0.650000	0.86243	GGT	KIAA1549-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347938.2		-	ENST00000440172.1	Missense_Mutation	SNP	7 : 138529203 - 138529203 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	106	17
ARHGAP10	79658	broad.mit.edu	37	4	148786101	148786101	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:148786101G>A	ENST00000336498.3	+	6	830	c.591G>A	c.(589-591)gtG>gtA	p.V197V		NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	197	BAR.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TTGAGTTTGTGGAACCTGTGA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	112	112			NA	NA	4		NA											NA				148786101		2203	4300	6503	SO:0001819	synonymous_variant			BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205	79658	79658		Rho GTPase activating proteins	26099	protein-coding gene	gene with protein product		609746			NA	8288572	Standard	NM_024605	NM_024605	NA	Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.591G>A	4.37:g.148786101G>A		NA	A1L0S5|Q2VPC4|Q2VPC5|Q96EV3|Q96S75	37	CCDS34075.1																																																																																			ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365005.1		+	ENST00000336498.3	Silent	SNP	4 : 148786101 - 148786101 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	273	58
TRIM50	135892	broad.mit.edu	37	7	72738607	72738607	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72738607A>G	ENST00000333149.2	-	2	379	c.179T>C	c.(178-180)gTg>gCg	p.V60A	TRIM50_ENST00000453152.1_Missense_Mutation_p.V60A|TRIM50_ENST00000493498.1_5'UTR	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	60						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						GCTGCCGTCCACCGCCTGCCG	0.687		NA									OREG0018105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	47	47			NA	NA	7		NA											NA				72738607		2202	4299	6501	SO:0001583	missense			AY081948	CCDS34654.1	7q11.23	2013-01-09	2011-01-25	2006-03-31	ENSG00000146755	ENSG00000146755	135892	135892		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	19017	protein-coding gene	gene with protein product		612548	tripartite motif-containing 50A, tripartite motif-containing 50	TRIM50A	NA		Standard	NM_178125	NM_001281450	NA	Approved	FLJ32804	uc003txy.1	Q86XT4	OTTHUMG00000156805	ENST00000333149.2:c.179T>C	7.37:g.72738607A>G	ENSP00000327994:p.Val60Ala	1139	Q86XT3	37	CCDS34654.1	.	.	.	.	.	.	.	.	.	.	A	10.02	1.236062	0.22626	.	.	ENSG00000146755	ENST00000333149;ENST00000453152	D;D	0.84442	-1.85;-1.85	3.7	2.48	0.30137	Zinc finger, RING/FYVE/PHD-type (1);	0.108239	0.39146	N	0.001441	T	0.78509	0.4294	L	0.53671	1.685	0.22001	N	0.999425	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.002	T	0.62388	-0.6865	10	0.23891	T	0.37	.	8.3006	0.32012	0.9005:0.0:0.0995:0.0	.	60;60	Q86XT4-2;Q86XT4	.;TRI50_HUMAN	A	60	ENSP00000327994:V60A;ENSP00000413875:V60A	ENSP00000327994:V60A	V	-	2	0	TRIM50	72376543	0.016000	0.18221	0.823000	0.32752	0.789000	0.44602	2.697000	0.47060	0.585000	0.29608	0.397000	0.26171	GTG	TRIM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345925.1		-	ENST00000333149.2	Missense_Mutation	SNP	7 : 72738607 - 72738607 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	430	82
SLX4	84464	broad.mit.edu	37	16	3639877	3639877	+	Silent	SNP	C	C	T	rs3810814	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3639877C>T	ENST00000294008.3	-	12	4402	c.3762G>A	c.(3760-3762)tcG>tcA	p.S1254S		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1254	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GCACCAGCCACGAGGTGTCTG	0.677		NA						Direct reversal of damage					C	6	0.0027	NA	NA	2184	0.01	0.9997	,	,	NA	4e-04	NA	NA	NA	0.0029	0.9473	LOWCOV,EXOME	NA	NA	9e-04	SNP								NA				0								C		1,4391		0,1,2195	30	36	34		3762	-12.1	0	16	dbSNP_107	34	0,8592		0,0,4296	no	coding-synonymous	SLX4	NM_032444.2		0,1,6491	TT,TC,CC	NA	0.0,0.0228,0.0077		1254/1835	3639877	1,12983	2196	4296	6492	SO:0001819	synonymous_variant			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827	84464	84464		Fanconi anemia, complementation groups, BTB/POZ domain containing	23845	protein-coding gene	gene with protein product	Fanconi anemia, complementation group P	613278	BTB (POZ) domain containing 12, SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)	BTBD12	NA	11347906, 19595721	Standard	NM_032444	NM_032444	NA	Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.3762G>A	16.37:g.3639877C>T		NA	Q69YT8|Q8TF15|Q96JP1	37	CCDS10506.2																																																																																			SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157301.3		-	ENST00000294008.3	Silent	SNP	16 : 3639877 - 3639877 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	606	122
ZNF175	7728	broad.mit.edu	37	19	52090174	52090174	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52090174A>G	ENST00000436511.2	+	4	297				ZNF175_ENST00000262259.2_Missense_Mutation_p.K197R			Q9Y473	ZN175_HUMAN	zinc finger protein 175	NA					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		CAACCTCAGAAATGTTGCTTA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	86	87			NA	NA	19		NA											NA				52090174		2203	4299	6502	SO:0001627	intron_variant			D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497	7728	7728		Zinc fingers, C2H2-type, -	12964	protein-coding gene	gene with protein product		601139			NA	8838321	Standard	NM_007147	NM_007147	NA	Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000436511.2:c.296-2627A>G	19.37:g.52090174A>G		NA	A8K9H2	37		.	.	.	.	.	.	.	.	.	.	A	8.124	0.781600	0.16120	.	.	ENSG00000105497	ENST00000262259	T	0.07216	3.21	2.2	-1.37	0.09056	.	.	.	.	.	T	0.03520	0.0101	N	0.08118	0	0.09310	N	1	B	0.18013	0.025	B	0.09377	0.004	T	0.40440	-0.9563	9	0.46703	T	0.11	.	3.398	0.07313	0.2846:0.0:0.1349:0.5805	.	197	Q9Y473	ZN175_HUMAN	R	197	ENSP00000262259:K197R	ENSP00000262259:K197R	K	+	2	0	ZNF175	56781986	0.000000	0.05858	0.001000	0.08648	0.728000	0.41692	-0.003000	0.12901	-0.459000	0.07013	0.533000	0.62120	AAA	ZNF175-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000396206.1		+	ENST00000436511.2	Intron	SNP	19 : 52090174 - 52090174 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	440	90
LRRK2	120892	broad.mit.edu	37	12	40702280	40702280	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40702280A>C	ENST00000298910.7	+	29	4029	c.3971A>C	c.(3970-3972)cAg>cCg	p.Q1324P		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1324					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTTCTTCAACAGCGATTAAAA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	43	42			NA	NA	12		NA											NA				40702280		2203	4298	6501	SO:0001583	missense			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906	120892	120892		Parkinson disease	18618	protein-coding gene	gene with protein product		609007	Parkinson disease (autosomal dominant) 8	PARK8	NA	15541308	Standard	XM_058513	NM_198578	NA	Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3971A>C	12.37:g.40702280A>C	ENSP00000298910:p.Gln1324Pro	NA	A6NJU2|Q6ZS50|Q8NCX9	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	18.91	3.724007	0.68959	.	.	ENSG00000188906	ENST00000298910	T	0.73047	-0.71	5.56	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.74129	0.3676	L	0.29908	0.895	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.981	T	0.76421	-0.2965	10	0.62326	D	0.03	.	11.9799	0.53113	0.8706:0.0:0.0:0.1294	.	1324;1324	Q17RV3;Q5S007	.;LRRK2_HUMAN	P	1324	ENSP00000298910:Q1324P	ENSP00000298910:Q1324P	Q	+	2	0	LRRK2	38988547	1.000000	0.71417	0.991000	0.47740	0.949000	0.60115	6.860000	0.75473	2.101000	0.63845	0.477000	0.44152	CAG	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277179.1		+	ENST00000298910.7	Missense_Mutation	SNP	12 : 40702280 - 40702280 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	196	36
KCNG4	93107	broad.mit.edu	37	16	84256170	84256170	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84256170T>C	ENST00000308251.4	-	3	1281	c.1213A>G	c.(1213-1215)Atc>Gtc	p.I405V		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	405						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GAGGCGGGGATGCTGGTGAAC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	27	27			NA	NA	16		NA											NA				84256170		2199	4299	6498	SO:0001583	missense			AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418	93107	93107		Potassium channels, Voltage-gated ion channels / Potassium channels	19697	protein-coding gene	gene with protein product		607603			NA	12060745, 16382104	Standard	NM_172347	NM_172347	NA	Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.1213A>G	16.37:g.84256170T>C	ENSP00000312129:p.Ile405Val	NA	Q96H24	37	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	T	14.93	2.683031	0.47991	.	.	ENSG00000168418	ENST00000308251	D	0.98455	-4.94	5.61	5.61	0.85477	Ion transport (1);	0.046703	0.85682	D	0.000000	D	0.96614	0.8895	L	0.55743	1.74	0.80722	D	1	P	0.35107	0.484	B	0.38225	0.268	D	0.95789	0.8823	10	0.66056	D	0.02	.	9.4757	0.38869	0.0:0.0783:0.0:0.9217	.	405	Q8TDN1	KCNG4_HUMAN	V	405	ENSP00000312129:I405V	ENSP00000312129:I405V	I	-	1	0	KCNG4	82813671	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.232000	0.58645	2.127000	0.65507	0.533000	0.62120	ATC	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269079.2		-	ENST00000308251.4	Missense_Mutation	SNP	16 : 84256170 - 84256170 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	27
C5orf42	65250	broad.mit.edu	37	5	37187945	37187945	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37187945C>T	ENST00000508244.1	-	21	3905		c.e21-1		C5orf42_ENST00000274258.7_Splice_Site|C5orf42_ENST00000425232.2_Splice_Site			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	NA										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CTGAAGCAACCTAAAGCAGGA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	66	67			NA	NA	5		NA											NA				37187945		2203	4300	6503	SO:0001630	splice_region_variant				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603	65250	65250			25801	protein-coding gene	gene with protein product		614571			NA	22264561	Standard	NM_023073	NM_023073	NA	Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.3812-1G>A	5.37:g.37187945C>T		NA		37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003492	0.54254	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	.	.	.	5.49	3.72	0.42706	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2017	0.54331	0.0:0.8613:0.0:0.1387	.	.	.	.	.	-1	.	.	.	-	.	.	C5orf42	37223702	1.000000	0.71417	0.984000	0.44739	0.698000	0.40448	4.907000	0.63300	0.810000	0.34279	0.491000	0.48974	.	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360806.1	Intron	-	ENST00000508244.1	Splice_Site	SNP	5 : 37187945 - 37187945 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	175	27
SH3D19	152503	broad.mit.edu	37	4	152069321	152069321	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:152069321G>T	ENST00000409598.4	-	11	2162	c.995C>A	c.(994-996)aCc>aAc	p.T332N	SH3D19_ENST00000514152.1_Missense_Mutation_p.T332N|SH3D19_ENST00000409252.2_Missense_Mutation_p.T332N|SH3D19_ENST00000427414.2_Missense_Mutation_p.T296N|SH3D19_ENST00000304527.4_Missense_Mutation_p.T332N|SH3D19_ENST00000455740.1_Missense_Mutation_p.T332N|SH3D19_ENST00000424281.1_Missense_Mutation_p.T296N			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	332	Pro-rich.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				AGTTGGAATGGTTTTTCCATT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	97	101			NA	NA	4		NA											NA				152069321		2203	4300	6503	SO:0001583	missense			BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686	152503	152503			30418	protein-coding gene	gene with protein product	EEN binding protein	608674			NA	12477932	Standard	NM_001009555	NM_001009555	NA	Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409598.4:c.995C>A	4.37:g.152069321G>T	ENSP00000387030:p.Thr332Asn	NA	B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	37	CCDS47144.1	.	.	.	.	.	.	.	.	.	.	G	6.001	0.368597	0.11352	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.69435	-0.4;0.23;-0.4;-0.4;-0.4;0.23;-0.4	5.57	-0.268	0.12934	.	2.146210	0.02286	N	0.069810	T	0.40719	0.1128	N	0.08118	0	0.09310	N	1	B;B;B;P	0.37176	0.246;0.021;0.006;0.586	B;B;B;B	0.30029	0.06;0.004;0.003;0.11	T	0.27706	-1.0066	10	0.14252	T	0.57	3.4621	6.4763	0.22037	0.6693:0.1355:0.1952:0.0	.	332;332;296;110	Q5HYK7;Q5HYK7-2;Q5HYK7-3;B3KY23	SH319_HUMAN;.;.;.	N	332;332;332;296;296;332;332	ENSP00000387030:T332N;ENSP00000302913:T332N;ENSP00000416708:T332N;ENSP00000404542:T296N;ENSP00000415694:T296N;ENSP00000386848:T332N;ENSP00000423449:T332N	ENSP00000302913:T332N	T	-	2	0	SH3D19	152288771	0.489000	0.26004	0.009000	0.14445	0.060000	0.15804	1.280000	0.33202	-0.275000	0.09219	0.655000	0.94253	ACC	SH3D19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333667.2		-	ENST00000409598.4	Missense_Mutation	SNP	4 : 152069321 - 152069321 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	347	81
MMP25	64386	broad.mit.edu	37	16	3100403	3100403	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3100403G>A	ENST00000336577.4	+	4	754	c.517G>A	c.(517-519)Gac>Aac	p.D173N	MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	173					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						CATCCTCATCGACTTTGCCCG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)							NA				0													52	48	49			NA	NA	16		NA											NA				3100403		2197	4300	6497	SO:0001583	missense			AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516	64386	64386			14246	protein-coding gene	gene with protein product		608482	matrix metalloproteinase 25, matrix metallopeptidase-like 1	MMPL1, MMP20	NA	10628838, 10706098	Standard	NM_022468	NM_022468	NA	Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.517G>A	16.37:g.3100403G>A	ENSP00000337816:p.Asp173Asn	NA	D3DUA8|Q9H3Q0	37	CCDS10492.1	.	.	.	.	.	.	.	.	.	.	G	8.620	0.891265	0.17613	.	.	ENSG00000008516	ENST00000336577;ENST00000325800	T	0.20463	2.07	4.96	2.83	0.33086	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.123299	0.36034	N	0.002821	T	0.21186	0.0510	L	0.54323	1.7	0.22127	N	0.999349	P;P	0.44690	0.806;0.841	B;P	0.44897	0.232;0.463	T	0.07790	-1.0754	10	0.27785	T	0.31	.	7.8239	0.29303	0.0949:0.2212:0.6838:0.0	.	97;173	O43923;Q9NPA2	.;MMP25_HUMAN	N	173;100	ENSP00000337816:D173N	ENSP00000324953:D100N	D	+	1	0	MMP25	3040404	0.000000	0.05858	0.990000	0.47175	0.115000	0.19883	0.369000	0.20416	0.380000	0.24823	0.655000	0.94253	GAC	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437116.1		+	ENST00000336577.4	Missense_Mutation	SNP	16 : 3100403 - 3100403 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	380	16
MYT1	4661	broad.mit.edu	37	20	62868708	62868708	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62868708G>A	ENST00000328439.1	+	21	3422	c.3058G>A	c.(3058-3060)Gag>Aag	p.E1020K	MYT1_ENST00000536311.1_Missense_Mutation_p.E1047K	NM_004535.2	NP_004526.1	Q01538	MYT1_HUMAN	myelin transcription factor 1	1020					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GTCCAACTCGGAGATGGAGGC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(59;481 1041 20555 21139 33705)							NA				0													63	50	54			NA	NA	20		NA											NA				62868708		2202	4296	6498	SO:0001583	missense			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132	4661	4661		Zinc fingers, C2HC-type containing	7622	protein-coding gene	gene with protein product	neural zinc finger transcription factor 2	600379		PLPB1	NA	1280325, 9268380	Standard	NM_004535	NM_004535	NA	Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.3058G>A	20.37:g.62868708G>A	ENSP00000327465:p.Glu1020Lys	NA	E1P5H0|O94922|Q9UPV2	37	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247965	0.80024	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.42131	0.98;0.98	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.53384	0.1793	L	0.39397	1.21	0.80722	D	1	D;B	0.76494	0.999;0.22	D;B	0.80764	0.994;0.052	T	0.36261	-0.9755	10	0.06099	T	0.92	-26.8619	19.7607	0.96316	0.0:0.0:1.0:0.0	.	1047;1020	F5H7M8;Q01538	.;MYT1_HUMAN	K	1020;1047	ENSP00000327465:E1020K;ENSP00000442412:E1047K	ENSP00000327465:E1020K	E	+	1	0	MYT1	62339152	1.000000	0.71417	0.979000	0.43373	0.991000	0.79684	6.520000	0.73773	2.686000	0.91538	0.561000	0.74099	GAG	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080297.1		+	ENST00000328439.1	Missense_Mutation	SNP	20 : 62868708 - 62868708 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	73	14
HIST1H2BG	8339	broad.mit.edu	37	6	26216590	26216590	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26216590C>T	ENST00000244601.3	-	1	282	c.282G>A	c.(280-282)gaG>gaA	p.E94E		NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	94					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				CGGTCTGGATCTCCCTGGAGG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	95	95			NA	NA	6		NA											NA				26216590		2203	4300	6503	SO:0001819	synonymous_variant			M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802	8339	8339		Histones / Replication-dependent	4746	protein-coding gene	gene with protein product		602798	H2B histone family, member A, histone 1, H2bg	H2BFA	NA	1916825, 12408966	Standard	NM_003518	NM_003518	NA	Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.282G>A	6.37:g.26216590C>T		NA	P02278|Q3B872|Q4VB69|Q93078|Q93080	37	CCDS4594.1																																																																																			HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040109.2		-	ENST00000244601.3	Silent	SNP	6 : 26216590 - 26216590 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	740	135
NT5C3A	51251	broad.mit.edu	37	7	33057137	33057137	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:33057137C>T	ENST00000396152.2	-	8	807	c.505G>A	c.(505-507)Gat>Aat	p.D169N	NT5C3A_ENST00000409787.1_Missense_Mutation_p.D169N|NT5C3A_ENST00000242210.7_Missense_Mutation_p.D208N|NT5C3A_ENST00000409467.1_Missense_Mutation_p.D157N|NT5C3A_ENST00000610140.1_Missense_Mutation_p.D203N|NT5C3A_ENST00000405342.1_Missense_Mutation_p.D169N|AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000381626.2_Missense_Mutation_p.D157N	NM_016489.12	NP_057573.2			5'-nucleotidase, cytosolic IIIA	NA											NA						TCTAGTACATCGCCGATTCCA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	121	122			NA	NA	7		NA											NA				33057137		2203	4300	6503	SO:0001583	missense			AF312735	CCDS34616.1, CCDS34617.1, CCDS55101.1	7p14.3	2013-03-06	2013-03-06	2013-03-06	ENSG00000122643	ENSG00000122643	51251	51251	3.1.3.5		17820	protein-coding gene	gene with protein product	lupin	606224	5'-nucleotidase, cytosolic III	NT5C3	NA	11042152, 10942414	Standard	NM_016489	NM_001002010	NA	Approved	UMPH1, PSN1, PN-I, UMPH, P5'N-1, cN-III, p36, POMP, hUMP1	uc003tdk.4	Q9H0P0	OTTHUMG00000152983	ENST00000396152.2:c.505G>A	7.37:g.33057137C>T	ENSP00000379456:p.Asp169Asn	NA		37	CCDS34617.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.549660	0.45383	.	.	ENSG00000122643	ENST00000381626;ENST00000396152;ENST00000242210;ENST00000405342;ENST00000409467;ENST00000409787	D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.19	4.32	0.51571	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.87617	0.6222	L	0.55017	1.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84783	0.0774	10	0.22109	T	0.4	.	13.8255	0.63348	0.0:0.9262:0.0:0.0738	.	208;169	Q9H0P0;Q9H0P0-1	5NT3_HUMAN;.	N	157;169;208;169;157;169	ENSP00000371039:D157N;ENSP00000379456:D169N;ENSP00000242210:D208N;ENSP00000385261:D169N;ENSP00000387166:D157N;ENSP00000387205:D169N	ENSP00000242210:D208N	D	-	1	0	NT5C3	33023662	1.000000	0.71417	0.140000	0.22221	0.043000	0.13939	7.818000	0.86416	1.186000	0.42985	0.655000	0.94253	GAT	NT5C3A-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328883.1		-	ENST00000396152.2	Missense_Mutation	SNP	7 : 33057137 - 33057137 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	491	93
TTYH1	57348	broad.mit.edu	37	19	54932493	54932493	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54932493T>C	ENST00000301194.4	+	3	470	c.348T>C	c.(346-348)agT>agC	p.S116S	TTYH1_ENST00000376531.3_Silent_p.S116S|TTYH1_ENST00000376530.3_Silent_p.S116S|TTYH1_ENST00000391739.3_Silent_p.S165S			Q9H313	TTYH1_HUMAN	tweety family member 1	116					cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		GTGAGACCAGTGATGGGGTGT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	101	108			NA	NA	19		NA											NA				54932493		2203	4300	6503	SO:0001819	synonymous_variant			AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614	57348	57348			13476	protein-coding gene	gene with protein product		605784	tweety (Drosophila) homolog 1, tweety homolog 1 (Drosophila)		NA	10950931	Standard		NM_020659	NA	Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000301194.4:c.348T>C	19.37:g.54932493T>C		NA	B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	37	CCDS56102.1																																																																																			TTYH1-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000140497.1		+	ENST00000301194.4	Silent	SNP	19 : 54932493 - 54932493 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	435	74
CAP2	10486	broad.mit.edu	37	6	17426835	17426835	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17426835G>A	ENST00000229922.2	+	3	668	c.136G>A	c.(136-138)Gtg>Atg	p.V46M	CAP2_ENST00000378990.2_Missense_Mutation_p.V46M|CAP2_ENST00000493172.1_Missense_Mutation_p.V46M|CAP2_ENST00000465994.1_Missense_Mutation_p.V46M|CAP2_ENST00000489374.1_Missense_Mutation_p.V46M	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	46					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			GGCACCCTCCGTGGAAGCCTT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	98	102			NA	NA	6		NA											NA				17426835		2203	4300	6503	SO:0001583	missense			BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186	10486	10486			20039	protein-coding gene	gene with protein product					NA	7962207, 8761950	Standard		NM_006366	NA	Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.136G>A	6.37:g.17426835G>A	ENSP00000229922:p.Val46Met	NA	B2R5Y3|Q6IAY2	37	CCDS4539.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093368	0.76756	.	.	ENSG00000112186	ENST00000229922;ENST00000378994;ENST00000489374;ENST00000378990;ENST00000493172;ENST00000465994	T;T;T;T;T	0.37915	1.17;1.17;1.17;2.42;1.17	5.57	5.57	0.84162	Adenylate cyclase-associated CAP, N-terminal (2);	0.249150	0.41396	D	0.000897	T	0.56746	0.2006	M	0.84773	2.715	0.29975	N	0.81823	D;D;D;D;P	0.89917	1.0;1.0;1.0;0.996;0.941	D;D;D;P;B	0.87578	0.998;0.997;0.998;0.826;0.257	T	0.59257	-0.7488	10	0.62326	D	0.03	-18.492	16.447	0.83937	0.0:0.0:1.0:0.0	.	46;46;46;46;46	B7Z214;B7Z385;B7Z1C4;E9PDI2;P40123	.;.;.;.;CAP2_HUMAN	M	46	ENSP00000229922:V46M;ENSP00000417705:V46M;ENSP00000368275:V46M;ENSP00000417208:V46M;ENSP00000418604:V46M	ENSP00000229922:V46M	V	+	1	0	CAP2	17534814	0.994000	0.37717	0.999000	0.59377	0.998000	0.95712	2.323000	0.43823	2.626000	0.88956	0.591000	0.81541	GTG	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039952.2		+	ENST00000229922.2	Missense_Mutation	SNP	6 : 17426835 - 17426835 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	470	80
SEMA4B	10509	broad.mit.edu	37	15	90766793	90766793	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90766793C>T	ENST00000411539.2	+	8	1124	c.864C>T	c.(862-864)ggC>ggT	p.G288G	SEMA4B_ENST00000379122.3_Silent_p.G283G|SEMA4B_ENST00000332496.6_Silent_p.G288G	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	NA										NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CCCTCCAGGGCGATGAGGGTG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	21	21			NA	NA	15		NA											NA				90766793		2113	4221	6334	SO:0001819	synonymous_variant			AB051532	CCDS45347.1	15q25	2008-07-18					10509	10509		Semaphorins	10730	protein-coding gene	gene with protein product				SEMAC	NA	7748561	Standard	NM_198925	NM_020210	NA	Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.864C>T	15.37:g.90766793C>T		NA		37	CCDS45347.1																																																																																			SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416810.1		+	ENST00000411539.2	Silent	SNP	15 : 90766793 - 90766793 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	117	16
OR8H3	390152	broad.mit.edu	37	11	55890184	55890184	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55890184T>C	ENST00000313472.3	+	1	336	c.336T>C	c.(334-336)tgT>tgC	p.C112C		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CTGCTGAATGTTATCTTCTCT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													279	267	271			NA	NA	11		NA											NA				55890184		2201	4296	6497	SO:0001819	synonymous_variant			AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761	390152	390152		GPCR / Class A : Olfactory receptors	15309	protein-coding gene	gene with protein product					NA		Standard	NM_001005201	NM_001005201	NA	Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.336T>C	11.37:g.55890184T>C		NA	Q6IFB7	37	CCDS31519.1																																																																																			OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391541.1		+	ENST00000313472.3	Silent	SNP	11 : 55890184 - 55890184 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1804	303
DPP3	10072	broad.mit.edu	37	11	66259196	66259196	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66259196C>T	ENST00000532677.1	+	9	1415	c.1014C>T	c.(1012-1014)cgC>cgT	p.R338R	DPP3_ENST00000453114.1_Silent_p.R319R|DPP3_ENST00000531863.1_Silent_p.R339R|DPP3_ENST00000360510.2_Silent_p.R319R|DPP3_ENST00000541961.1_Silent_p.R319R|DPP3_ENST00000530165.1_Silent_p.R289R	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	319					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						AGAGCTACCGCGACCCCTTTG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	170	169			NA	NA	11		NA											NA				66259196		2200	4295	6495	SO:0001819	synonymous_variant			AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	10072	10072	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	dipeptidylpeptidase III, dipeptidylpeptidase 3		NA	10773679	Standard		NM_005700	NA	Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000532677.1:c.1014C>T	11.37:g.66259196C>T		NA	B2RDB5|O95748|Q969H2|Q9BV67|Q9HAL6	37																																																																																				DPP3-001	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000393423.1		+	ENST00000532677.1	Silent	SNP	11 : 66259196 - 66259196 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1454	280
KLHDC1	122773	broad.mit.edu	37	14	50218425	50218425	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50218425C>T	ENST00000359332.2	+	13	1246	c.1156C>T	c.(1156-1158)Cga>Tga	p.R386*		NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	386						cytoplasm				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					AGCTAATCACCGAGAAGAACA	0.284		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	56	55			NA	NA	14		NA											NA				50218425		2203	4299	6502	SO:0001587	stop_gained			AF111806	CCDS9692.1	14q21.3	2007-08-01			ENSG00000197776	ENSG00000197776	122773	122773			19836	protein-coding gene	gene with protein product		611281			NA		Standard	NM_172193	NM_172193	NA	Approved	MST025	uc001www.3	Q8N7A1	OTTHUMG00000140295	ENST00000359332.2:c.1156C>T	14.37:g.50218425C>T	ENSP00000352282:p.Arg386*	NA	B3KXD9|Q8WYI1	37	CCDS9692.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.947149	0.92593	.	.	ENSG00000197776	ENST00000359332	.	.	.	5.53	4.62	0.57501	.	0.106294	0.40064	N	0.001190	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.6475	11.2832	0.49208	0.3314:0.6686:0.0:0.0	.	.	.	.	X	386	.	ENSP00000352282:R386X	R	+	1	2	KLHDC1	49288175	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	0.867000	0.27968	1.280000	0.44463	0.467000	0.42956	CGA	KLHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276882.2		+	ENST00000359332.2	Nonsense_Mutation	SNP	14 : 50218425 - 50218425 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	164	30
MAP7	9053	broad.mit.edu	37	6	136693712	136693712	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136693712G>A	ENST00000354570.3	-	8	1213	c.803C>T	c.(802-804)tCg>tTg	p.S268L	MAP7_ENST00000438100.2_Missense_Mutation_p.S253L|MAP7_ENST00000432797.2_Missense_Mutation_p.S122L|MAP7_ENST00000454590.1_Missense_Mutation_p.S290L|MAP7_ENST00000544465.1_Missense_Mutation_p.S253L	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	268					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	p.S268L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TCGATCCATCGAATTTCTAGA	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)	large_intestine(1)											206	180	189			NA	NA	6		NA											NA				136693712		2203	4300	6503	SO:0001583	missense			X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525	9053	9053			6869	protein-coding gene	gene with protein product		604108			NA	8408219	Standard	NM_003980	NM_003980	NA	Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.803C>T	6.37:g.136693712G>A	ENSP00000346581:p.Ser268Leu	NA	Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	37	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.270146	0.23221	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000432797;ENST00000345567	T;T;T;T;T	0.08720	3.06;3.06;3.06;3.06;3.06	5.67	3.83	0.44106	.	0.763445	0.11544	N	0.553417	T	0.01523	0.0049	N	0.05351	-0.065	0.23082	N	0.998324	B;B;B;B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.0;0.001;0.001;0.001	B;B;B;B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.0;0.001;0.001;0.0	T	0.47222	-0.9134	10	0.27785	T	0.31	-0.12	11.0815	0.48062	0.1542:0.0:0.8458:0.0	.	253;290;253;290;290;174;231;268	B7Z290;B7ZB64;F5H1E2;E9PCP3;B7Z400;F8W783;Q14244-2;Q14244	.;.;.;.;.;.;.;MAP7_HUMAN	L	268;290;253;253;122;174	ENSP00000346581:S268L;ENSP00000414712:S290L;ENSP00000445737:S253L;ENSP00000400790:S253L;ENSP00000414879:S122L	ENSP00000344217:S174L	S	-	2	0	MAP7	136735405	1.000000	0.71417	0.881000	0.34555	0.983000	0.72400	2.910000	0.48766	1.336000	0.45506	0.591000	0.81541	TCG	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042382.2		-	ENST00000354570.3	Missense_Mutation	SNP	6 : 136693712 - 136693712 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	72
ADAM22	53616	broad.mit.edu	37	7	87780610	87780610	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87780610A>G	ENST00000398204.4	+	20	1979	c.1656A>G	c.(1654-1656)agA>agG	p.R552R	ADAM22_ENST00000398209.3_Silent_p.R552R|ADAM22_ENST00000398201.4_Silent_p.R552R|ADAM22_ENST00000265727.7_Silent_p.R552R|ADAM22_ENST00000315984.7_Silent_p.R552R	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	552	Cys-rich.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CCAGAGATAGACAATGCAAAT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	120	122			NA	NA	7		NA											NA				87780610		1896	4104	6000	SO:0001819	synonymous_variant			AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277	53616	53616		ADAM metallopeptidase domain containing	201	protein-coding gene	gene with protein product	metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2	603709	a disintegrin and metalloproteinase domain 22		NA	9693107, 10524237	Standard	NM_021723	NM_021723	NA	Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000398204.4:c.1656A>G	7.37:g.87780610A>G		NA	O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	37	CCDS43609.1																																																																																			ADAM22-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268368.2		+	ENST00000398204.4	Silent	SNP	7 : 87780610 - 87780610 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	406	74
ZNF676	163223	broad.mit.edu	37	19	22363697	22363697	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22363697A>G	ENST00000397121.2	-	3	1139	c.822T>C	c.(820-822)atT>atC	p.I274I		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CTTCAGCATGAATTGCCTTAT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	90	88			NA	NA	19		NA											NA				22363697		2129	4261	6390	SO:0001819	synonymous_variant			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109	163223	163223		Zinc fingers, C2H2-type	20429	protein-coding gene	gene with protein product					NA		Standard	NM_001001411	NM_001001411	NA	Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.822T>C	19.37:g.22363697A>G		NA	A8MVX5	37	CCDS42539.1																																																																																			ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464392.1		-	ENST00000397121.2	Silent	SNP	19 : 22363697 - 22363697 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	501	84
AXDND1	126859	broad.mit.edu	37	1	179414170	179414170	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179414170G>T	ENST00000367618.3	+	16	2016	c.1629G>T	c.(1627-1629)aaG>aaT	p.K543N	AXDND1_ENST00000457238.2_Missense_Mutation_p.K543N|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	543										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ATACTCTCAAGATTATTAAAC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	99	97			NA	NA	1		NA											NA				179414170		2203	4300	6503	SO:0001583	missense			BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779	126859	126859			26564	protein-coding gene	gene with protein product			chromosome 1 open reading frame 125	C1orf125	NA	14702039	Standard	NM_144696	NM_144696	NA	Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.1629G>T	1.37:g.179414170G>T	ENSP00000356590:p.Lys543Asn	NA	Q6AWB2|Q96LJ3|Q96M01	37	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.423516	0.43020	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	T;T;T	0.47869	2.12;0.83;2.14	5.65	3.76	0.43208	.	0.221447	0.47852	D	0.000213	T	0.37210	0.0995	L	0.43152	1.355	0.27449	N	0.953484	B;B;B	0.25719	0.132;0.02;0.047	B;B;B	0.22386	0.017;0.012;0.039	T	0.34129	-0.9841	10	0.59425	D	0.04	-12.5854	8.0527	0.30587	0.189:0.0:0.811:0.0	.	501;543;543	E9PCJ4;Q5T1B0;F5GWM2	.;AXDN1_HUMAN;.	N	543;501;543;477	ENSP00000356590:K543N;ENSP00000416712:K543N;ENSP00000391716:K477N	ENSP00000353471:K501N	K	+	3	2	AXDND1	177680793	1.000000	0.71417	0.972000	0.41901	0.951000	0.60555	1.968000	0.40500	0.834000	0.34852	0.549000	0.68633	AAG	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085312.1		+	ENST00000367618.3	Missense_Mutation	SNP	1 : 179414170 - 179414170 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	722	183
SNX6	58533	broad.mit.edu	37	14	35036896	35036896	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35036896G>A	ENST00000396526.3	-	12	1311	c.815C>T	c.(814-816)gCa>gTa	p.A272V	SNX6_ENST00000396534.3_Missense_Mutation_p.A272V|SNX6_ENST00000362031.4_Missense_Mutation_p.A400V|SNX6_ENST00000355110.5_Missense_Mutation_p.A276V			Q9UNH7	SNX6_HUMAN	sorting nexin 6	388					cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		CACTACCTTTGCATGCTTCAG	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	71	72			NA	NA	14		NA											NA				35036896		2203	4297	6500	SO:0001583	missense			AF121856	CCDS9648.1, CCDS41942.1	14q13	2010-08-05			ENSG00000129515	ENSG00000129515	58533	58533		Sorting nexins	14970	protein-coding gene	gene with protein product		606098			NA	11279102	Standard		XM_006720224	NA	Approved		uc001wsf.1	Q9UNH7	OTTHUMG00000140213	ENST00000396526.3:c.815C>T	14.37:g.35036896G>A	ENSP00000379779:p.Ala272Val	NA	Q9Y449	37	CCDS9648.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491920	0.84962	.	.	ENSG00000129515	ENST00000396526;ENST00000396534;ENST00000362031;ENST00000355110	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	4.9	4.0	0.46444	Vps5 C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.64549	0.2608	M	0.87456	2.885	0.80722	D	1	B;B	0.28291	0.114;0.206	B;B	0.30572	0.055;0.117	T	0.70163	-0.4947	10	0.87932	D	0	-14.5445	14.1526	0.65395	0.0743:0.0:0.9257:0.0	.	276;388	B4DJS7;Q9UNH7	.;SNX6_HUMAN	V	272;272;400;276	ENSP00000379779:A272V;ENSP00000379785:A272V;ENSP00000355217:A400V;ENSP00000347230:A276V	ENSP00000347230:A276V	A	-	2	0	SNX6	34106647	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.763000	0.85283	1.386000	0.46466	0.557000	0.71058	GCA	SNX6-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276641.1		-	ENST00000396526.3	Missense_Mutation	SNP	14 : 35036896 - 35036896 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	260	49
AAGAB	79719	broad.mit.edu	37	15	67524224	67524224	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:67524224C>T	ENST00000561452.1	-	5	651	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	AAGAB_ENST00000261880.5_Missense_Mutation_p.E155K|AAGAB_ENST00000542650.1_Missense_Mutation_p.E46K			Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin binding protein	155					protein transport	cytoplasm		p.E155*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						CCTGTAGATTCTGGGAAGTCA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Nonsense(1)	large_intestine(1)											211	198	202			NA	NA	15		NA											NA				67524224		1887	4126	6013	SO:0001583	missense			AL136715	CCDS42050.1, CCDS61679.1	15q22.33-q23	2014-02-12	2009-07-20		ENSG00000103591	ENSG00000103591	79719	79719			25662	protein-coding gene	gene with protein product		614888			NA	11230166, 10477754	Standard	NM_024666	NM_024666	NA	Approved	FLJ11506, p34	uc002aqk.5	Q6PD74	OTTHUMG00000172246	ENST00000561452.1:c.136G>A	15.37:g.67524224C>T	ENSP00000453263:p.Glu46Lys	NA	Q6FI86|Q7Z5X9|Q9H0P1|Q9HAK0	37		.	.	.	.	.	.	.	.	.	.	C	34	5.306213	0.95629	.	.	ENSG00000103591	ENST00000261880;ENST00000542650	T;T	0.55588	0.51;0.51	5.21	5.21	0.72293	.	0.093945	0.64402	D	0.000001	T	0.66819	0.2828	M	0.63843	1.955	0.80722	D	1	D	0.58268	0.982	P	0.56398	0.797	T	0.69639	-0.5091	10	0.72032	D	0.01	-20.1834	18.9506	0.92640	0.0:1.0:0.0:0.0	.	155	Q6PD74	AAGAB_HUMAN	K	155;46	ENSP00000261880:E155K;ENSP00000440735:E46K	ENSP00000261880:E155K	E	-	1	0	AAGAB	65311278	1.000000	0.71417	0.998000	0.56505	0.881000	0.50899	7.225000	0.78051	2.699000	0.92147	0.650000	0.86243	GAA	AAGAB-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000417474.1		-	ENST00000561452.1	Missense_Mutation	SNP	15 : 67524224 - 67524224 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	951	171
CD151	977	broad.mit.edu	37	11	837331	837331	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:837331G>A	ENST00000528011.1	+	4	440	c.433G>A	c.(433-435)Gct>Act	p.A145T	CD151_ENST00000397420.3_Missense_Mutation_p.A145T|CD151_ENST00000397421.1_Missense_Mutation_p.A145T|CD151_ENST00000322008.4_Missense_Mutation_p.A145T			P48509	CD151_HUMAN	CD151 molecule (Raph blood group)	145					cell adhesion|hemidesmosome assembly	cytosol|integral to plasma membrane|membrane fraction	protein binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTGACCAGCGCTGTGGACCA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(14;501 559 15826 37823 38305)							NA				0													64	61	62			NA	NA	11		NA											NA				837331		2201	4297	6498	SO:0001583	missense			AL161965, BC013302, D29963	CCDS7719.1	11p15.5	2014-07-18	2006-03-28		ENSG00000177697	ENSG00000177697	977	977		CD molecules, Blood group antigens, Tetraspanins	1630	protein-coding gene	gene with protein product		602243	CD151 antigen, CD151 antigen (Raph blood group)		NA	9070943	Standard	NM_004357	NM_004357	NA	Approved	SFA-1, PETA-3, TSPAN24, RAPH	uc001lsb.3	P48509	OTTHUMG00000133311	ENST00000528011.1:c.433G>A	11.37:g.837331G>A	ENSP00000432990:p.Ala145Thr	NA	A8KAK8|Q14826|Q86U54|Q96TE3	37		.	.	.	.	.	.	.	.	.	.	G	19.20	3.782579	0.70222	.	.	ENSG00000177697	ENST00000397420;ENST00000322008;ENST00000397421;ENST00000529810;ENST00000526693;ENST00000524748;ENST00000527341;ENST00000530320;ENST00000528011	T;T;T;T;T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34	4.41	4.41	0.53225	Tetraspanin, EC2 domain (1);	0.000000	0.85682	D	0.000000	D	0.85635	0.5742	L	0.55834	1.745	0.80722	D	1	D	0.67145	0.996	P	0.60012	0.867	D	0.86569	0.1846	10	0.51188	T	0.08	.	17.1864	0.86868	0.0:0.0:1.0:0.0	.	145	P48509	CD151_HUMAN	T	145;145;145;120;145;145;145;145;145	ENSP00000380565:A145T;ENSP00000324101:A145T;ENSP00000380566:A145T;ENSP00000432258:A120T;ENSP00000435054:A145T;ENSP00000431403:A145T;ENSP00000436591:A145T;ENSP00000433787:A145T;ENSP00000432990:A145T	ENSP00000324101:A145T	A	+	1	0	CD151	827331	1.000000	0.71417	0.314000	0.25224	0.027000	0.11550	7.288000	0.78691	2.290000	0.77057	0.561000	0.74099	GCT	CD151-014	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000383118.1		+	ENST00000528011.1	Missense_Mutation	SNP	11 : 837331 - 837331 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	352	72
OR7G3	390883	broad.mit.edu	37	19	9236904	9236904	+	Silent	SNP	G	G	A	rs143566600		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9236904G>A	ENST00000305444.2	-	1	722	c.723C>T	c.(721-723)tgC>tgT	p.C241C		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						AATGTGACCCGCAGATGGAAA	0.443		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	99	101	100		723	-0.7	0.6	19	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR7G3	NM_001001958.1		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		241/313	9236904	1,13005	2203	4300	6503	SO:0001819	synonymous_variant				CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920	390883	390883		GPCR / Class A : Olfactory receptors	8467	protein-coding gene	gene with protein product					NA		Standard		NM_001001958	NA	Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.723C>T	19.37:g.9236904G>A		NA	Q6IFJ6|Q96R99	37	CCDS32899.1																																																																																			OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384611.1		-	ENST00000305444.2	Silent	SNP	19 : 9236904 - 9236904 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	707	30
ADAMTSL4	54507	broad.mit.edu	37	1	150525688	150525688	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150525688C>T	ENST00000369038.2	+	3	594	c.393C>T	c.(391-393)caC>caT	p.H131H	ADAMTSL4_ENST00000369039.5_Silent_p.H131H|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Silent_p.H131H|ADAMTSL4_ENST00000369041.5_Silent_p.H131H			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	131					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCGCTTCCCACCTAGGGAGAG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	30	29			NA	NA	1		NA											NA				150525688		2190	4283	6473	SO:0001819	synonymous_variant			BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382	54507	54507			19706	protein-coding gene	gene with protein product		610113	thrombospondin repeat containing 1	TSRC1	NA	12706885	Standard	NM_019032	NM_019032	NA	Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.393C>T	1.37:g.150525688C>T		NA	Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	37	CCDS955.1																																																																																			ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084395.4		+	ENST00000369038.2	Silent	SNP	1 : 150525688 - 150525688 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	430	65
NAALAD2	10003	broad.mit.edu	37	11	89868815	89868815	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89868815T>C	ENST00000525171.1	+	2	201	c.171T>C	c.(169-171)gcT>gcC	p.A57A	NAALAD2_ENST00000375944.3_Silent_p.A57A|NAALAD2_ENST00000321955.4_Silent_p.A57A|NAALAD2_ENST00000534061.1_Silent_p.A57A			Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	57					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AAATGAAAGCTGAAAACATCA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	111	111			NA	NA	11		NA											NA				89868815		2201	4299	6500	SO:0001819	synonymous_variant			AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	10003	10003	3.4.17.21		14526	protein-coding gene	gene with protein product	glutamate carboxypeptidase III	611636			NA	10085079	Standard	NM_005467	NM_005467	NA	Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000525171.1:c.171T>C	11.37:g.89868815T>C		NA	B3KQR4|Q4VAM9	37																																																																																				NAALAD2-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000394387.1		+	ENST00000525171.1	Silent	SNP	11 : 89868815 - 89868815 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	282	47
ZNF208	7757	broad.mit.edu	37	19	22156630	22156630	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22156630A>G	ENST00000397126.4	-	4	1354	c.1206T>C	c.(1204-1206)tgT>tgC	p.C402C	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208	NA										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AACCTTTGCCACATTCTTCAC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	48	47			NA	NA	19		NA											NA				22156630		1991	4208	6199	SO:0001819	synonymous_variant			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321	7757	7757		Zinc fingers, C2H2-type, -	12999	protein-coding gene	gene with protein product	zinc finger protein 95	603977			NA	9724325	Standard	NM_007153	NM_007153	NA	Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1206T>C	19.37:g.22156630A>G		NA		37	CCDS54240.1																																																																																			ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464302.1		-	ENST00000397126.4	Silent	SNP	19 : 22156630 - 22156630 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	401	48
NUP37	79023	broad.mit.edu	37	12	102468224	102468224	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102468224C>T	ENST00000552283.1	-	10	1028	c.889G>A	c.(889-891)Gcc>Acc	p.A297T	RP11-554E23.4_ENST00000552707.1_RNA|NUP37_ENST00000251074.1_Missense_Mutation_p.A297T			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	297					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						GATCCAACGGCTACAGAACCC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	57	60			NA	NA	12		NA											NA				102468224		2203	4300	6503	SO:0001583	missense			AF514994	CCDS9089.1	12q23.2	2014-08-12			ENSG00000075188	ENSG00000075188	79023	79023		WD repeat domain containing	29929	protein-coding gene	gene with protein product		609264			NA	12196509	Standard	NM_024057	NM_024057	NA	Approved	MGC5585, FLJ22618	uc001tjc.3	Q8NFH4	OTTHUMG00000170478	ENST00000552283.1:c.889G>A	12.37:g.102468224C>T	ENSP00000448054:p.Ala297Thr	NA	Q9H644	37	CCDS9089.1	.	.	.	.	.	.	.	.	.	.	C	2.498	-0.315945	0.05422	.	.	ENSG00000075188	ENST00000552283;ENST00000251074;ENST00000551744	T;T	0.30182	1.54;1.54	6.17	-5.45	0.02616	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.495874	0.25143	N	0.032818	T	0.11665	0.0284	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.27806	-1.0063	10	0.15066	T	0.55	-0.5591	9.5044	0.39037	0.1564:0.1692:0.5702:0.1042	.	297	Q8NFH4	NUP37_HUMAN	T	297;297;206	ENSP00000448054:A297T;ENSP00000251074:A297T	ENSP00000251074:A297T	A	-	1	0	NUP37	100992354	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.596000	0.05720	-1.025000	0.03334	-0.818000	0.03119	GCC	NUP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409330.1		-	ENST00000552283.1	Missense_Mutation	SNP	12 : 102468224 - 102468224 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	157	20
C1QTNF9	338872	broad.mit.edu	37	13	24895592	24895592	+	Missense_Mutation	SNP	G	G	A	rs146807462		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24895592G>A	ENST00000382071.2	+	4	773	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	C1QTNF9_ENST00000332018.4_Missense_Mutation_p.E230K|C1QTNF9-AS1_ENST00000449656.1_RNA			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	230	C1q.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		CCTGTATAACGAATTCAACCA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	LYS/GLU	0,4406		0,0,2203	181	160	167		688	3.1	0	13	dbSNP_134	167	3,8597		0,3,4297	no	missense	C1QTNF9	NM_178540.3	56	0,3,6500	AA,AG,GG	NA	0.0349,0.0,0.0231	benign	230/334	24895592	3,13003	2203	4300	6503	SO:0001583	missense			BC040438	CCDS9306.1	13q12.12	2010-08-18			ENSG00000240654	ENSG00000240654	338872	338872			28732	protein-coding gene	gene with protein product		614285			NA	12975309, 18787108	Standard	NM_178540	NM_178540	NA	Approved	MGC48915, CTRP9, C1QTNF9A, AQL1	uc001upj.3	P0C862	OTTHUMG00000016576	ENST00000382071.2:c.688G>A	13.37:g.24895592G>A	ENSP00000371503:p.Glu230Lys	NA	A2A3T6|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	37	CCDS9306.1	.	.	.	.	.	.	.	.	.	.	N	3.525	-0.097032	0.07010	0.0	3.49E-4	ENSG00000240654	ENST00000382071;ENST00000332018	D;D	0.93906	-3.31;-3.31	3.96	3.1	0.35709	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.666605	0.15858	N	0.241198	D	0.90246	0.6950	L	0.60845	1.875	0.09310	N	1	B	0.20780	0.048	B	0.18263	0.021	T	0.82639	-0.0358	10	0.42905	T	0.14	.	10.001	0.41929	0.1676:0.0:0.8324:0.0	.	230	P0C862	C1T9A_HUMAN	K	230	ENSP00000371503:E230K;ENSP00000333737:E230K	ENSP00000333737:E230K	E	+	1	0	C1QTNF9	23793592	0.001000	0.12720	0.026000	0.17262	0.238000	0.25445	0.911000	0.28584	2.180000	0.69256	0.430000	0.28490	GAA	C1QTNF9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044177.1		+	ENST00000382071.2	Missense_Mutation	SNP	13 : 24895592 - 24895592 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	589	124
CD101	9398	broad.mit.edu	37	1	117568492	117568492	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117568492G>A	ENST00000256652.4	+	8	2848	c.2790G>A	c.(2788-2790)gaG>gaA	p.E930E	CD101_ENST00000369470.1_Silent_p.E930E|RP11-27K13.3_ENST00000445523.1_RNA	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	930					cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CATCCGATGAGTCACAGCGGA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	67	69			NA	NA	1		NA											NA				117568492		2203	4300	6503	SO:0001819	synonymous_variant			Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256	9398	9398		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	5949	protein-coding gene	gene with protein product		604516	immunoglobulin superfamily, member 2	IGSF2	NA	7722300	Standard	NM_004258	NM_004258	NA	Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.2790G>A	1.37:g.117568492G>A		NA	Q15856	37	CCDS891.1																																																																																			CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033274.1		+	ENST00000256652.4	Silent	SNP	1 : 117568492 - 117568492 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	250	45
DYSF	8291	broad.mit.edu	37	2	71883410	71883410	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71883410G>T	ENST00000258104.3	+	42	4905	c.4628G>T	c.(4627-4629)gGt>gTt	p.G1543V	DYSF_ENST00000410041.1_Missense_Mutation_p.G1561V|DYSF_ENST00000409744.1_Missense_Mutation_p.G1551V|DYSF_ENST00000413539.2_Missense_Mutation_p.G1574V|DYSF_ENST00000410020.3_Missense_Mutation_p.G1582V|DYSF_ENST00000429174.2_Missense_Mutation_p.G1564V|DYSF_ENST00000409651.1_Missense_Mutation_p.G1575V|DYSF_ENST00000409582.3_Missense_Mutation_p.G1581V|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Missense_Mutation_p.G1565V|DYSF_ENST00000409762.1_Missense_Mutation_p.G1560V|DYSF_ENST00000394120.2_Missense_Mutation_p.G1544V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1543			G -> D (in LGMD2B).			cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TCTGTGATTGGTGAATTTAAG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM074150	DYSF	M							257	251	253			NA	NA	2		NA											NA				71883410		2203	4300	6503	SO:0001583	missense			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636	8291	8291			3097	protein-coding gene	gene with protein product	fer-1-like family member 1	603009	limb girdle muscular dystrophy 2B (autosomal recessive)	LGMD2B	NA	8320700	Standard	NM_003494	NM_003494	NA	Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4628G>T	2.37:g.71883410G>T	ENSP00000258104:p.Gly1543Val	NA	B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	37	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967841	0.74131	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.90788	-2.73;-2.69;-2.69;-2.69;-2.72;-2.73;-2.72;-2.67;-2.69;-2.69;-2.69	5.39	5.39	0.77823	C2 calcium/lipid-binding domain, CaLB (1);	0.220575	0.47093	D	0.000249	D	0.96291	0.8790	M	0.90922	3.16	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;0.997;0.998;1.0;0.998;1.0;0.999;0.998;1.0;0.995;0.997;0.998	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.85130	0.988;0.962;0.978;0.988;0.962;0.991;0.993;0.991;0.997;0.978;0.993;0.993;0.962;0.962;0.917	D	0.96680	0.9503	10	0.72032	D	0.01	-37.0403	16.7046	0.85368	0.0:0.0:1.0:0.0	.	307;1575;1582;1565;1530;1561;1551;1560;1550;1574;1581;1564;1529;1544;1543	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	V	1574;1560;1581;1564;1543;1575;1544;1551;1565;1582;1561	ENSP00000407046:G1574V;ENSP00000387137:G1560V;ENSP00000386547:G1581V;ENSP00000398305:G1564V;ENSP00000258104:G1543V;ENSP00000386683:G1575V;ENSP00000377678:G1544V;ENSP00000386285:G1551V;ENSP00000386512:G1565V;ENSP00000386881:G1582V;ENSP00000386617:G1561V	ENSP00000258104:G1543V	G	+	2	0	DYSF	71736918	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	9.524000	0.98036	2.804000	0.96469	0.655000	0.94253	GGT	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251970.3		+	ENST00000258104.3	Missense_Mutation	SNP	2 : 71883410 - 71883410 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1771	450
PAPOLB	56903	broad.mit.edu	37	7	4900560	4900560	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4900560C>T	ENST00000404991.1	-	1	1065	c.879G>A	c.(877-879)cgG>cgA	p.R293R	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	293					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AATTAAGATTCCGTTCTTCAG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	137	138			NA	NA	7		NA											NA				4900560		2201	4299	6500	SO:0001819	synonymous_variant			AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	56903	56903	2.7.7.19		15970	protein-coding gene	gene with protein product		607436			NA	11150526	Standard	NM_020144	NM_020144	NA	Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.879G>A	7.37:g.4900560C>T		NA	Q75LH1|Q8NE14	37																																																																																				PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000323797.1		-	ENST00000404991.1	Silent	SNP	7 : 4900560 - 4900560 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	643	117
CHD6	84181	broad.mit.edu	37	20	40052176	40052176	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40052176G>T	ENST00000373233.3	-	30	4688	c.4511C>A	c.(4510-4512)gCc>gAc	p.A1504D		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1504					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCGGCACATGGCCACAAAACT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													232	255	247			NA	NA	20		NA											NA				40052176		2203	4300	6503	SO:0001583	missense			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177	NA	84181			19057	protein-coding gene	gene with protein product					NA	11889561	Standard		NM_032221	NA	Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.4511C>A	20.37:g.40052176G>T	ENSP00000362330:p.Ala1504Asp	NA	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	37	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380218	0.82682	.	.	ENSG00000124177	ENST00000373233	D	0.89617	-2.54	6.07	6.07	0.98685	SANT domain, DNA binding (1);	0.194968	0.36482	N	0.002566	D	0.92773	0.7702	M	0.82323	2.585	0.80722	D	1	P	0.39883	0.693	P	0.45794	0.493	D	0.92712	0.6184	10	0.87932	D	0	-8.0985	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1504	Q8TD26	CHD6_HUMAN	D	1504	ENSP00000362330:A1504D	ENSP00000362330:A1504D	A	-	2	0	CHD6	39485590	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.654000	0.83653	2.884000	0.98904	0.655000	0.94253	GCC	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079270.1		-	ENST00000373233.3	Missense_Mutation	SNP	20 : 40052176 - 40052176 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1936	364
HECW2	57520	broad.mit.edu	37	2	197183767	197183767	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197183767G>T	ENST00000409111.1	-	7	1793	c.779C>A	c.(778-780)cCc>cAc	p.P260H	HECW2_ENST00000260983.3_Missense_Mutation_p.P616H			Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	616	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGGATCACTGGGTTCTGTTTC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	52	55			NA	NA	2		NA											NA				197183767		2203	4300	6503	SO:0001583	missense			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411	57520	57520			29853	protein-coding gene	gene with protein product					NA	10718198, 12890487	Standard	NM_020760	NM_020760	NA	Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000409111.1:c.779C>A	2.37:g.197183767G>T	ENSP00000386775:p.Pro260His	NA	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	37		.	.	.	.	.	.	.	.	.	.	G	14.37	2.516234	0.44763	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.32515	1.45;1.46	5.4	5.4	0.78164	.	1.163250	0.06052	N	0.656663	T	0.27798	0.0684	N	0.14661	0.345	0.39650	D	0.970454	D	0.52996	0.957	P	0.45998	0.5	T	0.04767	-1.0928	10	0.38643	T	0.18	.	13.4478	0.61151	0.0:0.0:0.8336:0.1664	.	616	Q9P2P5	HECW2_HUMAN	H	260;616	ENSP00000386775:P260H;ENSP00000260983:P616H	ENSP00000260983:P616H	P	-	2	0	HECW2	196892012	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.361000	0.52306	2.813000	0.96785	0.561000	0.74099	CCC	HECW2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000335314.2		-	ENST00000409111.1	Missense_Mutation	SNP	2 : 197183767 - 197183767 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	225	65
KIF6	221458	broad.mit.edu	37	6	39328261	39328261	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39328261G>A	ENST00000287152.7	-	18	2086	c.1992C>T	c.(1990-1992)atC>atT	p.I664I	KIF6_ENST00000373216.3_Silent_p.I664I|KIF6_ENST00000373213.4_Silent_p.I503I|KIF6_ENST00000229913.5_Silent_p.I115I|KIF6_ENST00000373215.3_Silent_p.I647I|KIF6_ENST00000394362.1_Silent_p.I115I|KIF6_ENST00000541946.1_Silent_p.I115I|KIF6_ENST00000538893.1_Silent_p.I608I	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	664					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GCAAGTGCTCGATCTCCACCT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	98	102			NA	NA	6		NA											NA				39328261		2203	4300	6503	SO:0001819	synonymous_variant			AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627	221458	221458		Kinesins	21202	protein-coding gene	gene with protein product		613919	chromosome 6 open reading frame 102	C6orf102	NA		Standard	NM_145027	NM_145027	NA	Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1992C>T	6.37:g.39328261G>A		NA	Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	37	CCDS4844.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319264	0.23994	.	.	ENSG00000164627	ENST00000458470	.	.	.	4.47	-2.17	0.07059	.	.	.	.	.	T	0.30386	0.0763	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29610	-1.0006	4	.	.	.	.	4.6477	0.12580	0.3828:0.0:0.3915:0.2257	.	.	.	.	L	556	.	.	S	-	2	0	KIF6	39436239	0.245000	0.23899	0.965000	0.40720	0.997000	0.91878	-0.733000	0.04898	-0.816000	0.04340	0.462000	0.41574	TCG	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040455.2		-	ENST00000287152.7	Silent	SNP	6 : 39328261 - 39328261 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	307	95
RNF144A	9781	broad.mit.edu	37	2	7170280	7170280	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:7170280C>T	ENST00000320892.6	+	8	1123	c.681C>T	c.(679-681)taC>taT	p.Y227Y	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	227						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		TGATACACTACGATAAGGGAC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	116	125			NA	NA	2		NA											NA				7170280		2203	4300	6503	SO:0001819	synonymous_variant			D79983	CCDS1657.1	2p25.2	2008-02-05	2007-08-20	2007-08-20	ENSG00000151692	ENSG00000151692	9781	9781		RING-type (C3HC4) zinc fingers	20457	protein-coding gene	gene with protein product			ring finger protein 144	RNF144	NA	8724849, 10431818	Standard	NM_014746	NM_014746	NA	Approved	UBCE7IP4, KIAA0161	uc002qys.3	P50876	OTTHUMG00000090353	ENST00000320892.6:c.681C>T	2.37:g.7170280C>T		NA	D6W4Y6|Q585H5	37	CCDS1657.1	.	.	.	.	.	.	.	.	.	.	c	7.981	0.751179	0.15778	.	.	ENSG00000151692	ENST00000432850	.	.	.	5.09	-7.49	0.01355	.	.	.	.	.	T	0.62600	0.2441	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67998	-0.5525	4	.	.	.	.	15.9038	0.79403	0.0:0.5952:0.0:0.4048	.	.	.	.	M	223	.	.	T	+	2	0	RNF144A	7087731	0.009000	0.17119	0.845000	0.33349	0.840000	0.47671	-1.079000	0.03410	-1.083000	0.03097	-0.619000	0.04042	ACG	RNF144A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206725.2		+	ENST00000320892.6	Silent	SNP	2 : 7170280 - 7170280 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	598	40
PKN1	5585	broad.mit.edu	37	19	14554324	14554324	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14554324C>T	ENST00000242783.6	+	3	530	c.365C>T	c.(364-366)gCc>gTc	p.A122V	PKN1_ENST00000342216.4_Missense_Mutation_p.A128V|PKN1_ENST00000587429.1_3'UTR	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	122					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						ACCTGCTCGGCCACCAACCTG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(185;2539 2965 10733 52867)							NA				0													47	58	54			NA	NA	19		NA											NA				14554324		2174	4292	6466	SO:0001583	missense			S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143	5585	5585			9405	protein-coding gene	gene with protein product		601032	protein kinase C-like 1	PRKCL1	NA	9570957	Standard	NM_002741, NM_213560	NM_002741	NA	Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.365C>T	19.37:g.14554324C>T	ENSP00000242783:p.Ala122Val	NA	A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	37	CCDS42513.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563159	0.45694	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.65549	-0.16;-0.16	4.01	4.01	0.46588	.	0.197201	0.34411	U	0.003983	T	0.42291	0.1196	N	0.22421	0.69	0.31609	N	0.651697	B;B	0.25609	0.13;0.079	B;B	0.16289	0.015;0.007	T	0.44726	-0.9309	10	0.22706	T	0.39	-0.0488	9.1301	0.36839	0.2185:0.7815:0.0:0.0	.	128;122	Q16512-2;Q16512	.;PKN1_HUMAN	V	122;128	ENSP00000242783:A122V;ENSP00000343325:A128V	ENSP00000242783:A122V	A	+	2	0	PKN1	14415324	0.765000	0.28485	1.000000	0.80357	0.933000	0.57130	1.622000	0.36997	1.794000	0.52575	0.491000	0.48974	GCC	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095510.1		+	ENST00000242783.6	Missense_Mutation	SNP	19 : 14554324 - 14554324 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	94	17
COL4A6	1288	broad.mit.edu	37	X	107418934	107418934	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107418934G>A	ENST00000334504.7	-	29	3013	c.2780C>T	c.(2779-2781)tCa>tTa	p.S927L	COL4A6_ENST00000545689.1_Missense_Mutation_p.S927L|COL4A6_ENST00000372216.4_Missense_Mutation_p.S928L|COL4A6_ENST00000394872.2_Missense_Mutation_p.S928L|COL4A6_ENST00000538570.1_Missense_Mutation_p.S927L	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	928	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TTTTCCAGTTGATCCTGGAAT	0.468		NA							Alport syndrome with Diffuse Leiomyomatosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(87;1895 1945 2589 7165)							NA				0													114	97	103			NA	NA	X		NA											NA				107418934		2203	4300	6503	SO:0001583	missense	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565	1288	1288		Collagens	2208	protein-coding gene	gene with protein product		303631			NA	8356449	Standard		NM_033641	NA	Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000334504.7:c.2780C>T	X.37:g.107418934G>A	ENSP00000334733:p.Ser927Leu	NA	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	37	CCDS14542.1	.	.	.	.	.	.	.	.	.	.	G	7.815	0.716629	0.15306	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.92545	-3.06;-3.06;-3.06;-3.06;-3.06	5.21	2.29	0.28610	.	0.484707	0.15540	N	0.257006	T	0.79161	0.4399	N	0.04880	-0.145	0.09310	N	1	B;B;B;B	0.27351	0.069;0.176;0.085;0.069	B;B;B;B	0.31547	0.029;0.132;0.102;0.062	T	0.66156	-0.5994	10	0.11182	T	0.66	.	5.6142	0.17422	0.2836:0.1396:0.5768:0.0	.	927;927;928;927	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	L	928;927;928;927;927;927	ENSP00000361290:S928L;ENSP00000334733:S927L;ENSP00000378340:S928L;ENSP00000443707:S927L;ENSP00000445236:S927L	ENSP00000334733:S927L	S	-	2	0	COL4A6	107305590	0.028000	0.19301	0.002000	0.10522	0.005000	0.04900	1.662000	0.37418	0.195000	0.20347	0.513000	0.50165	TCA	COL4A6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057876.2		-	ENST00000334504.7	Missense_Mutation	SNP	X : 107418934 - 107418934 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	219	62
EPO	2056	broad.mit.edu	37	7	100320732	100320732	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100320732G>T	ENST00000252723.2	+	5	739	c.558G>T	c.(556-558)gaG>gaT	p.E186D		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	186					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	ACACAGGGGAGGCCTGCAGGA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	89	89			NA	NA	7		NA											NA				100320732		2203	4300	6503	SO:0001583	missense			X02157	CCDS5705.1	7q21	2014-01-30			ENSG00000130427	ENSG00000130427	2056	2056		Endogenous ligands	3415	protein-coding gene	gene with protein product		133170			NA	9799793, 3838366	Standard	NM_000799	NM_000799	NA	Approved	EP	uc003uwi.3	P01588	OTTHUMG00000152121	ENST00000252723.2:c.558G>T	7.37:g.100320732G>T	ENSP00000252723:p.Glu186Asp	NA	Q2M2L6|Q549U2|Q9UDZ0|Q9UEZ5|Q9UHA0	37	CCDS5705.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.546256	0.45383	.	.	ENSG00000130427	ENST00000252723	T	0.50548	0.74	5.27	4.37	0.52481	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.330168	0.29376	N	0.012328	T	0.47284	0.1437	L	0.52759	1.655	0.33214	D	0.553841	D;D	0.54601	0.967;0.967	P;P	0.48901	0.594;0.594	T	0.60485	-0.7254	10	0.46703	T	0.11	-12.7599	10.3495	0.43927	0.0957:0.0:0.9043:0.0	.	185;186	B7ZKK5;P01588	.;EPO_HUMAN	D	186	ENSP00000252723:E186D	ENSP00000252723:E186D	E	+	3	2	EPO	100158668	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	1.638000	0.37165	2.616000	0.88540	0.643000	0.83706	GAG	EPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325323.1		+	ENST00000252723.2	Missense_Mutation	SNP	7 : 100320732 - 100320732 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	662	17
TERF2IP	54386	broad.mit.edu	37	16	75690139	75690139	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75690139T>C	ENST00000300086.4	+	3	927	c.830T>C	c.(829-831)aTa>aCa	p.I277T		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	277	Asp/Glu-rich (acidic).				negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						GAAATACATATAACTATGTGT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	94	93			NA	NA	16		NA											NA				75690139		2198	4300	6498	SO:0001583	missense			AK000669	CCDS32491.1	16q23.1	2012-10-03			ENSG00000166848	ENSG00000166848	54386	54386			19246	protein-coding gene	gene with protein product		605061			NA	10850490	Standard	NM_018975	NM_018975	NA	Approved	RAP1	uc002fet.2	Q9NYB0	OTTHUMG00000177136	ENST00000300086.4:c.830T>C	16.37:g.75690139T>C	ENSP00000300086:p.Ile277Thr	NA	B4DQN4|Q4W4Y2|Q8WYZ3|Q9NWR2	37	CCDS32491.1	.	.	.	.	.	.	.	.	.	.	T	14.38	2.519194	0.44866	.	.	ENSG00000166848	ENST00000300086	T	0.50548	0.74	5.02	5.02	0.67125	.	0.456793	0.24128	N	0.041294	T	0.27832	0.0685	N	0.19112	0.55	0.26115	N	0.980632	B	0.13594	0.008	B	0.09377	0.004	T	0.12993	-1.0526	10	0.14656	T	0.56	-9.2054	7.6006	0.28073	0.0:0.0938:0.0:0.9062	.	277	Q9NYB0	TE2IP_HUMAN	T	277	ENSP00000300086:I277T	ENSP00000300086:I277T	I	+	2	0	TERF2IP	74247640	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	2.165000	0.42396	2.228000	0.72767	0.482000	0.46254	ATA	TERF2IP-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000435519.1		+	ENST00000300086.4	Missense_Mutation	SNP	16 : 75690139 - 75690139 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	563	94
RET	5979	broad.mit.edu	37	10	43623580	43623580	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43623580C>T	ENST00000355710.3	+	20	3440	c.3208C>T	c.(3208-3210)Cct>Tct	p.P1070S		NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1070					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CCCGAACTGGCCTGGAGAGAG	0.448		1	T, Mis, N, F	H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6	medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC	medullary thyroid,  papillary thyroid, pheochromocytoma	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	E, O	0													164	156	158			NA	NA	10		NA											NA				43623580		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731	5979	5979		Cadherins / Cadherin-related	9967	protein-coding gene	gene with protein product	cadherin-related family member 16	164761	multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease 1	HSCR1, MEN2A, MTC1, MEN2B	NA	2687772, 1611909	Standard	NM_020975	NM_020975	NA	Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.3208C>T	10.37:g.43623580C>T	ENSP00000347942:p.Pro1070Ser	NA	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	37	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.844386	0.51164	.	.	ENSG00000165731	ENST00000355710	D	0.93547	-3.24	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.88407	0.6428	N	0.17082	0.46	0.80722	D	1	P	0.44478	0.836	B	0.43754	0.43	D	0.89203	0.3559	10	0.54805	T	0.06	.	12.7379	0.57236	0.0:0.9248:0.0:0.0751	.	1070	P07949	RET_HUMAN	S	1070	ENSP00000347942:P1070S	ENSP00000347942:P1070S	P	+	1	0	RET	42943586	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.752000	0.68728	2.593000	0.87608	0.563000	0.77884	CCT	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047694.2		+	ENST00000355710.3	Missense_Mutation	SNP	10 : 43623580 - 43623580 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	907	149
NES	10763	broad.mit.edu	37	1	156639369	156639369	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156639369G>T	ENST00000368223.3	-	4	4743	c.4611C>A	c.(4609-4611)ggC>ggA	p.G1537G		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1537	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGGACCCTGGCCATTAACAC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	84	90			NA	NA	1		NA											NA				156639369		2203	4300	6503	SO:0001819	synonymous_variant			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688	10763	10763		Intermediate filaments type IV	7756	protein-coding gene	gene with protein product		600915			NA	1478958, 9104587	Standard	NM_006617	NM_006617	NA	Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.4611C>A	1.37:g.156639369G>T		NA	O00552|Q3LIF5|Q5SYZ6	37	CCDS1151.1																																																																																			NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000082844.2		-	ENST00000368223.3	Silent	SNP	1 : 156639369 - 156639369 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	591	50
XDH	7498	broad.mit.edu	37	2	31588402	31588402	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31588402C>T	ENST00000379416.3	-	23	2513	c.2465G>A	c.(2464-2466)cGc>cAc	p.R822H		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	822					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TCGCACAGGGCGGCCGGTCCT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(66;682 1445 30109 40147)							NA				0													104	93	96			NA	NA	2		NA											NA				31588402		2203	4300	6503	SO:0001583	missense			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	7498	7498	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	xanthene dehydrogenase		NA	8224915	Standard	NM_000379	NM_000379	NA	Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.2465G>A	2.37:g.31588402C>T	ENSP00000368727:p.Arg822His	NA	Q16681|Q16712|Q4PJ16	37	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.910494	0.33721	.	.	ENSG00000158125	ENST00000379416	T	0.57436	0.4	6.17	5.25	0.73442	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.206565	0.50627	N	0.000113	T	0.60143	0.2246	M	0.86343	2.81	0.58432	D	0.999997	B	0.22800	0.075	B	0.23852	0.049	T	0.60193	-0.7311	10	0.39692	T	0.17	.	14.7869	0.69810	0.0:0.9275:0.0:0.0725	.	822	P47989	XDH_HUMAN	H	822	ENSP00000368727:R822H	ENSP00000368727:R822H	R	-	2	0	XDH	31441906	0.103000	0.21917	0.817000	0.32601	0.180000	0.23129	1.648000	0.37271	1.515000	0.48885	0.655000	0.94253	CGC	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216840.1		-	ENST00000379416.3	Missense_Mutation	SNP	2 : 31588402 - 31588402 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	677	116
LRFN1	57622	broad.mit.edu	37	19	39805276	39805276	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39805276G>A	ENST00000248668.4	-	1	700	c.701C>T	c.(700-702)tCg>tTg	p.S234L		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	234						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGTGCCCTGCGACCTCAGGAA	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	28	26			NA	NA	19		NA											NA				39805276		2114	4236	6350	SO:0001583	missense			BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011	57622	57622		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	29290	protein-coding gene	gene with protein product		612807			NA	10819331, 16828986	Standard	NM_020862	NM_020862	NA	Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.701C>T	19.37:g.39805276G>A	ENSP00000248668:p.Ser234Leu	NA	Q8TBS9	37	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118643	0.37436	.	.	ENSG00000128011	ENST00000248668	T	0.62498	0.02	4.3	4.3	0.51218	.	0.200845	0.24848	N	0.035105	T	0.54515	0.1863	L	0.54323	1.7	0.32386	N	0.553962	B	0.17038	0.02	B	0.13407	0.009	T	0.56920	-0.7899	10	0.12766	T	0.61	.	14.2826	0.66224	0.0:0.0:1.0:0.0	.	234	Q9P244	LRFN1_HUMAN	L	234	ENSP00000248668:S234L	ENSP00000248668:S234L	S	-	2	0	LRFN1	44497116	1.000000	0.71417	0.987000	0.45799	0.754000	0.42855	5.523000	0.67099	2.234000	0.73211	0.491000	0.48974	TCG	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463835.1		-	ENST00000248668.4	Missense_Mutation	SNP	19 : 39805276 - 39805276 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	140	34
GRM6	2916	broad.mit.edu	37	5	178409946	178409946	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178409946G>T	ENST00000517717.1	-	10	2439	c.2401C>A	c.(2401-2403)Ccc>Acc	p.P801T	GRM6_ENST00000231188.5_Missense_Mutation_p.P801T|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	801					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AAGAAGATGGGCACGAATGCC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	86	91			NA	NA	5		NA											NA				178409946		2203	4300	6503	SO:0001583	missense			U82083	CCDS4442.1	5q35	2014-01-28					2916	2916		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4598	protein-coding gene	gene with protein product		604096			NA	9215706	Standard		NM_000843	NA	Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.2401C>A	5.37:g.178409946G>T	ENSP00000430767:p.Pro801Thr	NA		37	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124804	0.77436	.	.	ENSG00000113262	ENST00000231188;ENST00000517717	D;D	0.90563	-2.69;-2.69	4.79	4.79	0.61399	GPCR, family 3, C-terminal (2);	.	.	.	.	D	0.96577	0.8883	H	0.94264	3.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97652	1.0155	9	0.87932	D	0	.	15.7151	0.77661	0.0:0.0:1.0:0.0	.	801;95	O15303;Q5HYM4	GRM6_HUMAN;.	T	801	ENSP00000231188:P801T;ENSP00000430767:P801T	ENSP00000231188:P801T	P	-	1	0	GRM6	178342552	1.000000	0.71417	0.990000	0.47175	0.714000	0.41099	9.661000	0.98601	2.387000	0.81309	0.313000	0.20887	CCC	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253474.2		-	ENST00000517717.1	Missense_Mutation	SNP	5 : 178409946 - 178409946 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	460	75
RPL18	6141	broad.mit.edu	37	19	49120059	49120059	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49120059C>T	ENST00000549273.1	-	4	254	c.221G>A	c.(220-222)gGc>gAc	p.G74D	RPL18_ENST00000549920.1_Missense_Mutation_p.G74D|RPL18_ENST00000550645.1_Missense_Mutation_p.G74D|RPL18_ENST00000552588.1_Missense_Mutation_p.G45D			Q07020	RL18_HUMAN	ribosomal protein L18	74					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			cervix(1)|kidney(2)	3		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		GTTTTCCCGGCCAGGAAGCTT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	82	84			NA	NA	19		NA											NA				49120059		2203	4300	6503	SO:0001583	missense			L11566	CCDS12726.1, CCDS58669.1	19q13	2011-04-06				ENSG00000063177	6141	6141		L ribosomal proteins	10310	protein-coding gene	gene with protein product	60S ribosomal protein L18	604179			NA	8218404	Standard	NM_000979	NM_000979	NA	Approved	L18	uc002pjq.2	Q07020	OTTHUMG00000169760	ENST00000549273.1:c.221G>A	19.37:g.49120059C>T	ENSP00000449610:p.Gly74Asp	NA	Q8WTZ6	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.665205|4.665205	0.88251|0.88251	.|.	.|.	ENSG00000063177|ENSG00000063177	ENST00000549920;ENST00000550645;ENST00000552588;ENST00000549273;ENST00000550973;ENST00000450952|ENST00000084795;ENST00000546623	.|.	.|.	.|.	4.34|4.34	4.34|4.34	0.51931|0.51931	Ribosomal protein L18e/L15P (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.69169|.	0.3081|.	L|L	0.58669|0.58669	1.825|1.825	0.80722|0.80722	D|D	1|1	P;B|.	0.41008|.	0.735;0.001|.	B;B|.	0.34931|.	0.192;0.019|.	T|.	0.68108|.	-0.5496|.	9|.	0.48119|.	T|.	0.1|.	-17.543|-17.543	14.7267|14.7267	0.69349|0.69349	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	74;74|.	B4DDY5;Q07020|.	.;RL18_HUMAN|.	D|X	74;74;45;74;22;74|75;46	.|.	ENSP00000407348:G74D|.	G|W	-|-	2|3	0|0	RPL18|RPL18	53811871|53811871	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	6.579000|6.579000	0.74036|0.74036	2.426000|2.426000	0.82243|0.82243	0.478000|0.478000	0.44815|0.44815	GGC|TGG	RPL18-014	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000405806.1		-	ENST00000549273.1	Missense_Mutation	SNP	19 : 49120059 - 49120059 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	405	12
PPP1R12C	54776	broad.mit.edu	37	19	55623837	55623837	+	Missense_Mutation	SNP	C	C	T	rs143271686	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55623837C>T	ENST00000263433.3	-	3	584	c.569G>A	c.(568-570)cGa>cAa	p.R190Q	PPP1R12C_ENST00000376393.2_Missense_Mutation_p.R190Q|PPP1R12C_ENST00000435544.2_Missense_Mutation_p.R116Q	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	190						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GAGCCCACCTCGGCGGGCGAT	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	GLN/ARG	1,4401		0,1,2200	18	24	22		569	4.7	1	19	dbSNP_134	22	13,8583		0,13,4285	no	missense	PPP1R12C	NM_017607.2	43	0,14,6485	TT,TC,CC	NA	0.1512,0.0227,0.1077	benign	190/783	55623837	14,12984	2201	4298	6499	SO:0001583	missense			AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503	54776	54776		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Ankyrin repeat domain containing	14947	protein-coding gene	gene with protein product	myosin-binding subunit 85	613245	leukocyte receptor cluster (LRC) member 3, protein phosphatase 1, regulatory (inhibitor) subunit 12C	LENG3	NA	11399775	Standard	NM_017607	NM_017607	NA	Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.569G>A	19.37:g.55623837C>T	ENSP00000263433:p.Arg190Gln	NA	Q59FK8|Q6ZPD1|Q7L8F7|Q96HW1|Q9H5H5|Q9NT00	37	CCDS12916.1	.	.	.	.	.	.	.	.	.	.	C	4.551	0.102327	0.08731	2.27E-4	0.001512	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	T;T;T	0.52057	0.68;0.68;0.68	4.71	4.71	0.59529	Ankyrin repeat-containing domain (3);	0.161907	0.42821	D	0.000641	T	0.20659	0.0497	N	0.04768	-0.165	0.38669	D	0.952273	P;P;P	0.48834	0.916;0.785;0.821	B;B;B	0.41088	0.347;0.197;0.298	T	0.33085	-0.9882	10	0.02654	T	1	.	9.0177	0.36179	0.0:0.9012:0.0:0.0988	.	116;190;190	B4DME2;Q9BZL4-3;Q9BZL4	.;.;PP12C_HUMAN	Q	190;190;116	ENSP00000263433:R190Q;ENSP00000365573:R190Q;ENSP00000387833:R116Q	ENSP00000263433:R190Q	R	-	2	0	PPP1R12C	60315649	1.000000	0.71417	0.997000	0.53966	0.481000	0.33189	2.806000	0.47947	2.633000	0.89246	0.561000	0.74099	CGA	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451814.2		-	ENST00000263433.3	Missense_Mutation	SNP	19 : 55623837 - 55623837 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	176	35
PXDNL	137902	broad.mit.edu	37	8	52384855	52384855	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:52384855C>T	ENST00000356297.4	-	8	804	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	PXDNL_ENST00000543296.1_Missense_Mutation_p.R235Q	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	235	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AAAAGTAATTCGGGGGCTCTC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	90	92			NA	NA	8		NA											NA				52384855		1837	4075	5912	SO:0001583	missense				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485	137902	137902		Immunoglobulin superfamily / I-set domain containing	26359	protein-coding gene	gene with protein product	polysomal ribonuclease 1 homolog (Xenopus)	615904	peroxidasin homolog-like (Drosophila)		NA	22543864	Standard	NM_144651	NM_144651	NA	Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.704G>A	8.37:g.52384855C>T	ENSP00000348645:p.Arg235Gln	NA	B5ME43|B6CGZ3|Q6ZMR2|Q96LH9	37	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	8.831	0.940018	0.18281	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.66815	-0.23;-0.23	3.84	2.96	0.34315	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51975	0.1706	N	0.25332	0.735	0.24906	N	0.992072	P	0.47350	0.894	B	0.42495	0.389	T	0.30909	-0.9962	9	0.27785	T	0.31	.	9.0746	0.36513	0.0:0.8869:0.0:0.1131	.	235	A1KZ92	PXDNL_HUMAN	Q	235	ENSP00000348645:R235Q;ENSP00000444865:R235Q	ENSP00000348645:R235Q	R	-	2	0	PXDNL	52547408	0.542000	0.26426	0.060000	0.19600	0.164000	0.22412	3.613000	0.54152	0.627000	0.30340	-0.350000	0.07774	CGA	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377905.1		-	ENST00000356297.4	Missense_Mutation	SNP	8 : 52384855 - 52384855 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	421	62
ATM	472	broad.mit.edu	37	11	108201008	108201008	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108201008C>T	ENST00000452508.2	+	51	7564	c.7375C>T	c.(7375-7377)Cgt>Tgt	p.R2459C	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.R2459C			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2459	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GAAAGAGGATCGTAAACGCTT	0.393		NA	D, Mis, N, F, S		T-PLL	leukemia, lymphoma, medulloblastoma, glioma		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		L, O	0													125	128	127			NA	NA	11		NA											NA				108201008		2201	4298	6499	SO:0001583	missense	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311	472	472			795	protein-coding gene	gene with protein product	TEL1, telomere maintenance 1, homolog (S. cerevisiae)	607585	ataxia telangiectasia mutated (includes complementation groups A, C and D), ataxia telangiectasia mutated	ATA, ATDC, ATC, ATD	NA		Standard	NM_000051	XM_005271561	NA	Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7375C>T	11.37:g.108201008C>T	ENSP00000388058:p.Arg2459Cys	NA	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749141	0.69533	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.83591	-1.74;-1.74	4.7	4.7	0.59300	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.048185	0.85682	D	0.000000	D	0.89694	0.6789	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.90611	0.4552	10	0.87932	D	0	.	12.1357	0.53970	0.1713:0.8287:0.0:0.0	.	2459	Q13315	ATM_HUMAN	C	2459	ENSP00000278616:R2459C;ENSP00000388058:R2459C	ENSP00000278616:R2459C	R	+	1	0	ATM	107706218	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	1.303000	0.33470	2.293000	0.77203	0.561000	0.74099	CGT	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389938.1		+	ENST00000452508.2	Missense_Mutation	SNP	11 : 108201008 - 108201008 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	405	78
WDR66	144406	broad.mit.edu	37	12	122380800	122380800	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122380800G>T	ENST00000397454.2	+	7	1247		c.e7-1		WDR66_ENST00000288912.4_Splice_Site	NM_001178003.1	NP_001171474.1	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	NA							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		GTCACCTACAGAAGGTATGCA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(85;849 1794 49757 52143)							NA				0													98	99	99			NA	NA	12		NA											NA				122380800		2004	4190	6194	SO:0001630	splice_region_variant			AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023	144406	144406		WD repeat domain containing	28506	protein-coding gene	gene with protein product					NA	17967944	Standard	NM_144668	NM_001178003	NA	Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000397454.2:c.1111-1G>T	12.37:g.122380800G>T		NA	C9J1W2|Q8IYA3|Q8N898|Q8NDE7	37	CCDS53840.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779734	0.31502	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7853	0.63105	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR66	120865183	1.000000	0.71417	0.967000	0.41034	0.144000	0.21451	6.434000	0.73408	2.316000	0.78162	0.557000	0.71058	.	WDR66-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401701.1	Intron	+	ENST00000397454.2	Splice_Site	SNP	12 : 122380800 - 122380800 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	341	54
C1QTNF1	114897	broad.mit.edu	37	17	77040048	77040048	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77040048A>G	ENST00000578229.1	+	0	287				C1QTNF1_ENST00000580474.1_5'UTR|C1QTNF1_ENST00000581774.1_5'UTR|C1QTNF1_ENST00000339142.2_5'UTR|C1QTNF1_ENST00000579760.1_5'UTR|C1QTNF1_ENST00000392445.2_5'UTR|C1QTNF1_ENST00000583904.1_5'UTR|C1QTNF1_ENST00000580454.1_5'UTR|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.K10E|C1QTNF1_ENST00000311661.4_Intron			Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	NA						collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			GCCCGGCAGGAAGATGGGCTC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	77	76			NA	NA	17		NA											NA				77040048		2203	4300	6503	SO:0001623	5_prime_UTR_variant			AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918	114897	114897			14324	protein-coding gene	gene with protein product	G protein coupled receptor interacting protein	610365			NA	12409230	Standard	NM_030968	NM_198593	NA	Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000578229.1:c.-249A>G	17.37:g.77040048A>G		NA	Q96NF2|Q9GZR4	37	CCDS11762.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.234876	0.58886	.	.	ENSG00000173918	ENST00000354124;ENST00000392445	T	0.76316	-1.01	3.85	3.85	0.44370	.	1.405150	0.05245	U	0.512823	T	0.69824	0.3154	.	.	.	0.19300	N	0.99997	P;B	0.39480	0.675;0.231	B;B	0.34824	0.19;0.026	T	0.62067	-0.6932	9	0.87932	D	0	.	9.2002	0.37254	1.0:0.0:0.0:0.0	.	10;10	A8K7L9;Q6ZMH6	.;.	E	10	ENSP00000343230:K10E	ENSP00000343230:K10E	K	+	1	0	C1QTNF1	74551643	0.997000	0.39634	0.844000	0.33320	0.010000	0.07245	1.976000	0.40579	1.733000	0.51620	0.459000	0.35465	AAG	C1QTNF1-006	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437394.1		+	ENST00000578229.1	5'UTR	SNP	17 : 77040048 - 77040048 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	378	88
KIAA0195	9772	broad.mit.edu	37	17	73495078	73495078	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73495078G>A	ENST00000314256.7	+	31	4307	c.3913G>A	c.(3913-3915)Gtg>Atg	p.V1305M	KIAA0195_ENST00000579208.1_Missense_Mutation_p.V956M|KIAA0195_ENST00000375248.5_Missense_Mutation_p.V1315M	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1305					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTGGAGGACGTGCCCCTGCT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	102	79	87		3913	5.9	1	17		87	0,8600		0,0,4300	no	missense	KIAA0195	NM_014738.4	21	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	possibly-damaging	1305/1357	73495078	1,13005	2203	4300	6503	SO:0001583	missense				CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728	9772	9772			28983	protein-coding gene	gene with protein product					NA	8724849	Standard	NM_014738	NM_014738	NA	Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.3913G>A	17.37:g.73495078G>A	ENSP00000313885:p.Val1305Met	NA	O75536|Q86XF1	37	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672607	0.47781	2.27E-4	0.0	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.96011	-3.88;-3.88	5.88	5.88	0.94601	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.062160	0.64402	D	0.000012	D	0.93390	0.7892	N	0.22421	0.69	0.46078	D	0.998854	P;D;D;D	0.61080	0.952;0.986;0.977;0.989	P;P;P;P	0.55923	0.714;0.681;0.591;0.787	D	0.92320	0.5865	10	0.62326	D	0.03	-22.7561	7.7162	0.28706	0.1903:0.0:0.8097:0.0	.	1315;1315;1335;1305	B4DGC6;C9JL75;Q12767-2;Q12767	.;.;.;K0195_HUMAN	M	1305;1315	ENSP00000313885:V1305M;ENSP00000364397:V1315M	ENSP00000313885:V1305M	V	+	1	0	KIAA0195	71006673	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	4.945000	0.63568	2.782000	0.95742	0.655000	0.94253	GTG	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447303.1		+	ENST00000314256.7	Missense_Mutation	SNP	17 : 73495078 - 73495078 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	357	39
LRP1B	53353	broad.mit.edu	37	2	141660727	141660727	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141660727A>G	ENST00000389484.3	-	23	4499	c.3528T>C	c.(3526-3528)tgT>tgC	p.C1176C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1176					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGTTCAGCGAACACTCATCTA	0.393		NA								TSP Lung(27;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(99;50 2074 2507 20106)							NA				0								A		0,4406		0,0,2203	73	63	67		3528	1.8	1	2		67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LRP1B	NM_018557.2		0,1,6502	GG,GA,AA	NA	0.0116,0.0,0.0077		1176/4600	141660727	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702	53353	53353		Low density lipoprotein receptors	6693	protein-coding gene	gene with protein product	LRP-deleted in tumors	608766			NA	10766186	Standard	NM_018557	NM_018557	NA	Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3528T>C	2.37:g.141660727A>G		NA	Q8WY29|Q8WY30|Q8WY31	37	CCDS2182.1																																																																																			LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254736.2		-	ENST00000389484.3	Silent	SNP	2 : 141660727 - 141660727 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	257	7
CHD7	55636	broad.mit.edu	37	8	61768711	61768711	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61768711G>T	ENST00000423902.2	+	33	7593	c.7114G>T	c.(7114-7116)Gcc>Tcc	p.A2372S	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000529472.1_3'UTR	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2372					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGTCGGCCAAGCCAGCATTAG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	36	36			NA	NA	8		NA											NA				61768711		1974	4174	6148	SO:0001583	missense			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316	55636	55636			20626	protein-coding gene	gene with protein product		608892	CHARGE association	CRG	NA	15300250, 18834967	Standard	XM_098762	NM_017780	NA	Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.7114G>T	8.37:g.61768711G>T	ENSP00000392028:p.Ala2372Ser	NA	Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.318603	0.23994	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.45668	0.89	5.94	4.13	0.48395	.	0.071226	0.56097	D	0.000031	T	0.26412	0.0645	N	0.20685	0.6	0.34300	D	0.68418	B	0.16603	0.018	B	0.16722	0.016	T	0.25882	-1.0119	10	0.15066	T	0.55	-5.4239	11.7828	0.52023	0.0662:0.1237:0.8102:0.0	.	2372	Q9P2D1	CHD7_HUMAN	S	2372	ENSP00000392028:A2372S	ENSP00000307304:A2372S	A	+	1	0	CHD7	61931265	1.000000	0.71417	0.301000	0.25044	0.853000	0.48598	4.289000	0.59013	0.825000	0.34637	0.563000	0.77884	GCC	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383468.2		+	ENST00000423902.2	Missense_Mutation	SNP	8 : 61768711 - 61768711 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	71	18
XKR8	55113	broad.mit.edu	37	1	28293620	28293620	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28293620A>G	ENST00000373884.5	+	3	1705	c.1097A>G	c.(1096-1098)tAt>tGt	p.Y366C		NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	366						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		CCAGAGGGGTATCAGCTGCCT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	52	51			NA	NA	1		NA											NA				28293620		2203	4300	6503	SO:0001583	missense			AK091615	CCDS315.1	1p35.3	2008-02-05	2006-01-12		ENSG00000158156	ENSG00000158156	55113	55113			25508	protein-coding gene	gene with protein product			X Kell blood group precursor-related family, member 8		NA	12477932	Standard	NM_018053	NM_018053	NA	Approved	FLJ10307	uc001bph.1	Q9H6D3	OTTHUMG00000003912	ENST00000373884.5:c.1097A>G	1.37:g.28293620A>G	ENSP00000362991:p.Tyr366Cys	NA		37	CCDS315.1	.	.	.	.	.	.	.	.	.	.	A	9.664	1.144827	0.21288	.	.	ENSG00000158156	ENST00000373884	.	.	.	4.86	-4.13	0.03904	.	22.119600	0.00864	U	0.001946	T	0.28433	0.0703	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25537	-1.0129	9	0.44086	T	0.13	.	7.3174	0.26507	0.6509:0.1791:0.17:0.0	.	366	Q9H6D3	XKR8_HUMAN	C	366	.	ENSP00000362991:Y366C	Y	+	2	0	XKR8	28166207	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-1.918000	0.01574	-0.592000	0.05851	-0.462000	0.05337	TAT	XKR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000011175.1		+	ENST00000373884.5	Missense_Mutation	SNP	1 : 28293620 - 28293620 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	439	40
IFT57	55081	broad.mit.edu	37	3	107885720	107885720	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:107885720G>A	ENST00000264538.3	-	8	1209	c.962C>T	c.(961-963)gCt>gTt	p.A321V	IFT57_ENST00000468021.1_5'UTR	NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57	321					activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			CTGGGCTTGAGCTGCACGATA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	122	125			NA	NA	3		NA											NA				107885720		2203	4300	6503	SO:0001583	missense			AK001009	CCDS2951.1	3q13.13	2014-07-03	2014-07-03	2005-11-02	ENSG00000114446	ENSG00000114446	55081	55081		Intraflagellar transport homologs	17367	protein-coding gene	gene with protein product		606621	estrogen-related receptor beta like 1, intraflagellar transport 57 homolog (Chlamydomonas)	ESRRBL1	NA		Standard	NM_018010	NM_018010	NA	Approved	FLJ10147, HIPPI, MHS4R2	uc003dwx.4	Q9NWB7	OTTHUMG00000159223	ENST00000264538.3:c.962C>T	3.37:g.107885720G>A	ENSP00000264538:p.Ala321Val	NA	Q96DA9	37	CCDS2951.1	.	.	.	.	.	.	.	.	.	.	G	4.999	0.185475	0.09495	.	.	ENSG00000114446	ENST00000264538	.	.	.	5.48	4.59	0.56863	.	0.152367	0.64402	D	0.000019	T	0.42108	0.1188	N	0.25426	0.745	0.50171	D	0.999854	B	0.15930	0.015	B	0.18561	0.022	T	0.24835	-1.0149	9	0.30854	T	0.27	.	10.3105	0.43706	0.1468:0.0:0.8532:0.0	.	321	Q9NWB7	IFT57_HUMAN	V	321	.	ENSP00000264538:A321V	A	-	2	0	IFT57	109368410	1.000000	0.71417	0.986000	0.45419	0.991000	0.79684	4.848000	0.62874	2.735000	0.93741	0.650000	0.86243	GCT	IFT57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353918.1		-	ENST00000264538.3	Missense_Mutation	SNP	3 : 107885720 - 107885720 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	254	52
PLEC	5339	broad.mit.edu	37	8	145024774	145024774	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145024774C>T	ENST00000322810.4	-	1	270	c.101G>A	c.(100-102)cGc>cAc	p.R34H	PLEC_ENST00000356346.3_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000527096.1_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	34	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTGCAAGCTGCGGGGCCGCCG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	15	14			NA	NA	8		NA											NA				145024774		2075	4178	6253	SO:0001583	missense			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209	5339	5339			9069	protein-coding gene	gene with protein product		601282	plectin 1, intermediate filament binding protein, 500kD, epidermolysis bullosa simplex 1 (Ogna), plectin 1, intermediate filament binding protein 500kDa	EBS1, PLEC1	NA	8633055, 8696340	Standard	NM_000445	XM_005250976	NA	Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.101G>A	8.37:g.145024774C>T	ENSP00000323856:p.Arg34His	NA	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	c	12.60	1.986930	0.35036	.	.	ENSG00000178209	ENST00000322810	T	0.76578	-1.03	4.9	1.53	0.23141	Plectin/S10, N-terminal (1);	0.165072	0.26927	U	0.021791	T	0.57169	0.2035	N	0.19112	0.55	0.80722	D	1	B	0.16396	0.017	B	0.08055	0.003	T	0.50668	-0.8801	10	0.72032	D	0.01	.	2.9172	0.05756	0.0:0.4038:0.2297:0.3665	.	34	Q15149	PLEC_HUMAN	H	34	ENSP00000323856:R34H	ENSP00000323856:R34H	R	-	2	0	PLEC	145096762	0.998000	0.40836	0.972000	0.41901	0.380000	0.30137	1.319000	0.33655	0.455000	0.26910	0.563000	0.77884	CGC	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383281.1		-	ENST00000322810.4	Missense_Mutation	SNP	8 : 145024774 - 145024774 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	93	15
CYTL1	54360	broad.mit.edu	37	4	5016925	5016925	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5016925C>A	ENST00000307746.4	-	4	390	c.364G>T	c.(364-366)Gaa>Taa	p.E122*		NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN	cytokine-like 1	122					signal transduction	extracellular space|soluble fraction	receptor binding			breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		ATTGGGTATTCCAAGGCATTG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(15;457 478 29696 43408 47165)							NA				0													130	111	117			NA	NA	4		NA											NA				5016925		2203	4300	6503	SO:0001587	stop_gained			AF193766	CCDS3379.1	4p16-p15	2007-08-01			ENSG00000170891	ENSG00000170891	54360	54360			24435	protein-coding gene	gene with protein product		607930			NA	10857752	Standard	NM_018659	NM_018659	NA	Approved	C17, C4orf4	uc003gig.3	Q9NRR1	OTTHUMG00000125479	ENST00000307746.4:c.364G>T	4.37:g.5016925C>A	ENSP00000303550:p.Glu122*	NA		37	CCDS3379.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	11.80|11.80|11.80	1.747105|1.747105|1.747105	0.30955|0.30955|0.30955	.|.|.	.|.|.	ENSG00000170891|ENSG00000170891|ENSG00000170891	ENST00000307746|ENST00000506508|ENST00000509419	.|.|.	.|.|.	.|.|.	4.46|4.46|4.46	4.46|4.46|4.46	0.54185|0.54185|0.54185	.|.|.	0.142736|.|.	0.45361|.|.	D|.|.	0.000361|.|.	.|T|T	.|0.64046|0.64046	.|0.2563|0.2563	.|.|.	.|.|.	.|.|.	0.54753|0.54753|0.54753	D|D|D	0.999988|0.999988|0.999988	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.63175|0.63175	.|-0.6696|-0.6696	.|4|4	0.72032|.|.	D|.|.	0.01|.|.	-20.4236|-20.4236|-20.4236	12.6303|12.6303|12.6303	0.56653|0.56653|0.56653	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|V|C	122|61|77	.|.|.	ENSP00000303550:E122X|.|.	E|G|W	-|-|-	1|2|3	0|0|0	CYTL1|CYTL1|CYTL1	5067826|5067826|5067826	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.809000|0.809000|0.809000	0.32408|0.32408|0.32408	0.101000|0.101000|0.101000	0.19017|0.19017|0.19017	3.648000|3.648000|3.648000	0.54410|0.54410|0.54410	2.022000|2.022000|2.022000	0.59522|0.59522|0.59522	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GAA|GGA|TGG	CYTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000246802.1		-	ENST00000307746.4	Nonsense_Mutation	SNP	4 : 5016925 - 5016925 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	165	31
DHX34	9704	broad.mit.edu	37	19	47865893	47865893	+	Silent	SNP	C	C	T	rs138426511		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47865893C>T	ENST00000328771.4	+	6	1885	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F	DHX34_ENST00000471451.1_Intron	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	512	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		ATGATGCCTTCGCCCCCTACC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4403		0,1,2201	24	25	25		1536	-2.1	1	19	dbSNP_134	25	0,8598		0,0,4299	no	coding-synonymous	DHX34	NM_014681.5		0,1,6500	TT,TC,CC	NA	0.0,0.0227,0.0077		512/1144	47865893	1,13001	2202	4299	6501	SO:0001819	synonymous_variant			D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815	9704	9704		DEAH-boxes	16719	protein-coding gene	gene with protein product		615475	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34	DDX34	NA	10708517, 8590280	Standard	NM_014681	NM_014681	NA	Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.1536C>T	19.37:g.47865893C>T		NA	B4DMY8	37	CCDS12700.1																																																																																			DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000314313.3		+	ENST00000328771.4	Silent	SNP	19 : 47865893 - 47865893 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	62
CCDC11	0	broad.mit.edu	37	18	47787442	47787442	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47787442C>T	ENST00000398545.4	-	3	582	c.465G>A	c.(463-465)caG>caA	p.Q155Q		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN		155										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		ACCTGAATTGCTGGTCTAGCT	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	157	158			NA	NA	18		NA											NA				47787442		1817	4077	5894	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000398545.4:c.465G>A	18.37:g.47787442C>T		NA	B4DXT1	37	CCDS11940.2																																																																																			CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255922.3		-	ENST00000398545.4	Silent	SNP	18 : 47787442 - 47787442 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	674	142
C19orf55	0	broad.mit.edu	37	19	36253018	36253018	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36253018C>A	ENST00000544099.1	+	4	473	c.410C>A	c.(409-411)tCt>tAt	p.S137Y	C19orf55_ENST00000396908.4_Missense_Mutation_p.S137Y|C19orf55_ENST00000537459.1_Missense_Mutation_p.S137Y|C19orf55_ENST00000421853.2_Missense_Mutation_p.S37Y|C19orf55_ENST00000536950.1_Missense_Mutation_p.S137Y			Q2NL68	CS055_HUMAN		137										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGTCTGACTCTCCAGACCCC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	40	38			NA	NA	19		NA											NA				36253018		1962	4171	6133	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000544099.1:c.410C>A	19.37:g.36253018C>A	ENSP00000467267:p.Ser137Tyr	NA	Q8NDI3|Q8WWC8|Q96NL4	37		.	.	.	.	.	.	.	.	.	.	C	18.99	3.739653	0.69304	.	.	ENSG00000167595	ENST00000444637;ENST00000396908;ENST00000301165;ENST00000537459;ENST00000545674	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	4.59	3.55	0.40652	.	0.191988	0.25885	N	0.027669	T	0.61173	0.2326	M	0.64997	1.995	0.09310	N	1	D;D;D	0.69078	0.994;0.997;0.997	P;D;D	0.80764	0.874;0.994;0.994	T	0.50709	-0.8796	10	0.62326	D	0.03	-2.4722	8.6048	0.33767	0.0:0.8937:0.0:0.1063	.	137;137;137	E5RFB9;Q2NL68-3;Q2NL68-4	.;.;.	Y	52;137;137;52;52	ENSP00000394231:S52Y;ENSP00000380116:S137Y;ENSP00000301165:S137Y;ENSP00000440357:S52Y	ENSP00000301165:S137Y	S	+	2	0	C19orf55	40944858	0.000000	0.05858	0.004000	0.12327	0.583000	0.36354	0.394000	0.20834	1.266000	0.44231	0.650000	0.86243	TCT	C19orf55-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000398160.2		+	ENST00000544099.1	Missense_Mutation	SNP	19 : 36253018 - 36253018 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	161	38
TMTC4	84899	broad.mit.edu	37	13	101257327	101257327	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101257327T>C	ENST00000328767.5	-	16	1898	c.1814A>G	c.(1813-1815)gAc>gGc	p.D605G	TMTC4_ENST00000342624.5_Missense_Mutation_p.D735G|TMTC4_ENST00000376234.3_Missense_Mutation_p.D716G			Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	716						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGCCGTGGGGTCAAGCTGCAA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													278	248	258			NA	NA	13		NA											NA				101257327		2203	4300	6503	SO:0001583	missense				CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247	84899	84899		Tetratricopeptide (TTC) repeat domain containing	25904	protein-coding gene	gene with protein product					NA		Standard	NM_032813	XM_005254082	NA	Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000328767.5:c.1814A>G	13.37:g.101257327T>C	ENSP00000365409:p.Asp605Gly	NA	A6NLI7|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	37		.	.	.	.	.	.	.	.	.	.	T	25.7	4.661990	0.88251	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.65178	-0.14;-0.14;-0.14	6.15	6.15	0.99193	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.81805	0.4900	M	0.86740	2.835	0.80722	D	1	D;D;D	0.65815	0.994;0.977;0.995	D;D;D	0.71184	0.936;0.948;0.972	D	0.83781	0.0225	10	0.52906	T	0.07	.	16.7886	0.85580	0.0:0.0:0.0:1.0	.	605;716;735	B7Z666;Q5T4D3;Q5T4D3-3	.;TMTC4_HUMAN;.	G	716;735;605	ENSP00000365408:D716G;ENSP00000343871:D735G;ENSP00000365409:D605G	ENSP00000365409:D605G	D	-	2	0	TMTC4	100055328	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	7.690000	0.84178	2.363000	0.80096	0.523000	0.50628	GAC	TMTC4-009	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000355027.1		-	ENST00000328767.5	Missense_Mutation	SNP	13 : 101257327 - 101257327 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	795	114
CRNN	49860	broad.mit.edu	37	1	152382446	152382446	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152382446G>T	ENST00000271835.3	-	3	1174	c.1112C>A	c.(1111-1113)gCt>gAt	p.A371D	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	371	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTTCTCTAGCCCCTCCGTG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													180	152	162			NA	NA	1		NA											NA				152382446		2203	4300	6503	SO:0001583	missense			AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536	49860	49860		EF-hand domain containing	1230	protein-coding gene	gene with protein product		611312	chromosome 1 open reading frame 10	C1orf10	NA	11056050, 15854041	Standard	NM_016190	NM_016190	NA	Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1112C>A	1.37:g.152382446G>T	ENSP00000271835:p.Ala371Asp	NA	B2RE60|Q8N613	37	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	G	8.443	0.851255	0.17034	.	.	ENSG00000143536	ENST00000271835	T	0.05081	3.5	4.41	0.178	0.15058	.	0.979395	0.08353	N	0.958954	T	0.01124	0.0037	L	0.31578	0.945	0.09310	N	1	B	0.18461	0.028	B	0.13407	0.009	T	0.49123	-0.8972	10	0.14656	T	0.56	.	3.5545	0.07860	0.1941:0.0:0.4613:0.3446	.	371	Q9UBG3	CRNN_HUMAN	D	371	ENSP00000271835:A371D	ENSP00000271835:A371D	A	-	2	0	CRNN	150649070	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.067000	0.14510	-0.049000	0.13379	-0.237000	0.12165	GCT	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034503.1		-	ENST00000271835.3	Missense_Mutation	SNP	1 : 152382446 - 152382446 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1203	212
KCNS3	3790	broad.mit.edu	37	2	18112762	18112762	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:18112762C>T	ENST00000403915.1	+	3	938	c.487C>T	c.(487-489)Cga>Tga	p.R163*	KCNS3_ENST00000304101.4_Nonsense_Mutation_p.R163*|KCNS3_ENST00000465292.1_Intron	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	163					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGACACACTGCGATTTGGTCA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	69	67			NA	NA	2		NA											NA				18112762		2203	4300	6503	SO:0001587	stop_gained			AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745	3790	3790		Potassium channels, Voltage-gated ion channels / Potassium channels	6302	protein-coding gene	gene with protein product		603888			NA	10484328, 16382104	Standard	NM_002252	NM_002252	NA	Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.487C>T	2.37:g.18112762C>T	ENSP00000385968:p.Arg163*	NA	D6W520|O43651|Q96B56	37	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995490	0.54147	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	.	.	.	5.88	0.769	0.18492	.	0.362862	0.30602	N	0.009277	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	4.7012	0.12828	0.4916:0.2703:0.0:0.2381	.	.	.	.	X	163	.	ENSP00000305824:R163X	R	+	1	2	KCNS3	17976243	1.000000	0.71417	0.139000	0.22197	0.009000	0.06853	2.131000	0.42074	-0.144000	0.11314	0.655000	0.94253	CGA	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323808.1		+	ENST00000403915.1	Nonsense_Mutation	SNP	2 : 18112762 - 18112762 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	31
KCNQ2	3785	broad.mit.edu	37	20	62046315	62046315	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62046315C>T	ENST00000359125.2	-	13	1640	c.1466G>A	c.(1465-1467)cGc>cAc	p.R489H	KCNQ2_ENST00000359689.1_Missense_Mutation_p.R489H|KCNQ2_ENST00000360480.3_Missense_Mutation_p.R461H|KCNQ2_ENST00000370224.1_Missense_Mutation_p.R461H|KCNQ2_ENST00000344462.4_Missense_Mutation_p.R459H|KCNQ2_ENST00000357249.2_Missense_Mutation_p.R471H|KCNQ2_ENST00000354587.3_Missense_Mutation_p.R461H	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	489					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	TGCCCGGCTGCGGTCCCCGAA	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	66	63			NA	NA	20		NA											NA				62046315		2203	4300	6503	SO:0001583	missense			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043	3785	3785		Potassium channels, Voltage-gated ion channels / Potassium channels	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1	NA	9425895, 16382104	Standard	NM_172109	NM_172107	NA	Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1466G>A	20.37:g.62046315C>T	ENSP00000352035:p.Arg489His	NA	O43796|O75580|O95845|Q4VXP4|Q5VYT8|Q96J59|Q99454	37	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.888755	0.72524	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222	D;D;D;D;D;D;D;D;D;D	0.99762	-6.67;-6.67;-6.67;-6.67;-6.67;-6.67;-6.67;-6.67;-6.67;-6.67	5.26	5.26	0.73747	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.140241	0.47852	D	0.000206	D	0.98988	0.9655	L	0.47190	1.495	0.50313	D	0.999868	B;B;B;B	0.33379	0.41;0.41;0.41;0.273	B;B;B;B	0.26202	0.018;0.027;0.04;0.067	D	0.99875	1.1103	10	0.87932	D	0	-15.9725	18.8445	0.92200	0.0:1.0:0.0:0.0	.	461;471;459;489	O43526-3;O43526-2;O43526-4;O43526	.;.;.;KCNQ2_HUMAN	H	471;489;459;461;489;459;461;449;461;461	ENSP00000349789:R471H;ENSP00000352035:R489H;ENSP00000359246:R459H;ENSP00000346601:R461H;ENSP00000352718:R489H;ENSP00000399612:R459H;ENSP00000353668:R461H;ENSP00000339611:R449H;ENSP00000359244:R461H;ENSP00000359242:R461H	ENSP00000339611:R449H	R	-	2	0	KCNQ2	61516759	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.714000	0.54889	2.462000	0.83206	0.478000	0.44815	CGC	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080353.1		-	ENST00000359125.2	Missense_Mutation	SNP	20 : 62046315 - 62046315 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	722	133
CSMD1	64478	broad.mit.edu	37	8	2818703	2818703	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:2818703G>A	ENST00000602557.1	-	63	10220	c.9665C>T	c.(9664-9666)aCg>aTg	p.T3222M	CSMD1_ENST00000542608.1_Missense_Mutation_p.T3044M|CSMD1_ENST00000602723.1_Missense_Mutation_p.T3045M|CSMD1_ENST00000537824.1_Missense_Mutation_p.T3221M|CSMD1_ENST00000520002.1_Missense_Mutation_p.T3222M|CSMD1_ENST00000400186.3_Missense_Mutation_p.T3045M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3222	Sushi 27.					integral to membrane		p.T2950K(1)|p.T3221K(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAAGTGTGGCGTACCAGGGTC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	kidney(2)											77	74	75			NA	NA	8		NA											NA				2818703		1842	4103	5945	SO:0001583	missense					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117	64478	64478		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	14026	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 24	608397			NA		Standard	NM_033225	NM_033225	NA	Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000602557.1:c.9665C>T	8.37:g.2818703G>A	ENSP00000473359:p.Thr3222Met	NA	Q0H0J5|Q96QU9|Q96RM4	37		.	.	.	.	.	.	.	.	.	.	G	15.11	2.737291	0.49045	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.81	5.81	0.92471	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.75874	0.3909	L	0.55103	1.725	0.80722	D	1	D;P;D	0.69078	0.997;0.52;0.995	D;B;D	0.66497	0.91;0.223;0.944	T	0.74131	-0.3764	10	0.48119	T	0.1	.	20.0805	0.97772	0.0:0.0:1.0:0.0	.	3222;3222;3044	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	M	3045;3222;3083;3221;3044	ENSP00000383047:T3045M;ENSP00000430733:T3222M;ENSP00000441462:T3221M;ENSP00000446243:T3044M	ENSP00000320445:T3083M	T	-	2	0	CSMD1	2806110	1.000000	0.71417	0.104000	0.21259	0.343000	0.28985	5.299000	0.65716	2.755000	0.94549	0.650000	0.86243	ACG	CSMD1-017	NOVEL	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000467636.1		-	ENST00000602557.1	Missense_Mutation	SNP	8 : 2818703 - 2818703 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	170	28
CWC22	57703	broad.mit.edu	37	2	180837941	180837941	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:180837941C>T	ENST00000410053.3	-	8	1082	c.783G>A	c.(781-783)gcG>gcA	p.A261A	CWC22_ENST00000295749.6_Silent_p.A261A	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	261	MIF4G.					catalytic step 2 spliceosome	protein binding|RNA binding	p.A261A(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TAATAAGATGCGCCACAAATT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)						T		5,3695		0,5,1845	57	53	55		783	-6.3	1	2		55	0,8194		0,0,4097	no	coding-synonymous	CWC22	NM_020943.2		0,5,5942	TT,TC,CC	NA	0.0,0.1351,0.042		261/909	180837941	5,11889	1850	4097	5947	SO:0001819	synonymous_variant				CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510	57703	57703			29322	protein-coding gene	gene with protein product	functional spliceosome-associated protein b	615186	CWC22 spliceosome-associated protein homolog (S. cerevisiae)		NA	9136012, 23236153	Standard	NM_020943	NM_020943	NA	Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.783G>A	2.37:g.180837941C>T		NA	Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	37	CCDS46465.1																																																																																			CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334537.1		-	ENST00000410053.3	Silent	SNP	2 : 180837941 - 180837941 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	85	14
CUL7	9820	broad.mit.edu	37	6	43005624	43005624	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43005624C>T	ENST00000265348.3	-	26	4984	c.4899G>A	c.(4897-4899)acG>acA	p.T1633T	CUL7_ENST00000535468.1_Silent_p.T1717T			Q14999	CUL7_HUMAN	cullin 7	1633					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGCGTCTCAGCGTGCCCTTGC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	73	78			NA	NA	6		NA											NA				43005624		2203	4300	6503	SO:0001819	synonymous_variant			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090	9820	9820			21024	protein-coding gene	gene with protein product		609577	KIAA0076	KIAA0076	NA	12481031, 12904573	Standard	NM_014780	NM_014780	NA	Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.4899G>A	6.37:g.43005624C>T		NA	Q5T654	37	CCDS4881.1																																																																																			CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040575.1		-	ENST00000265348.3	Silent	SNP	6 : 43005624 - 43005624 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	166	29
KIAA0922	23240	broad.mit.edu	37	4	154557648	154557648	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154557648C>A	ENST00000409663.3	+	35	4802	c.4750C>A	c.(4750-4752)Ctg>Atg	p.L1584M	KIAA0922_ENST00000409959.3_Missense_Mutation_p.L1585M|KIAA0922_ENST00000440693.1_Missense_Mutation_p.L1501M	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1584						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CTATATGAACCTGGACATATG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	94	95			NA	NA	4		NA											NA				154557648		2203	4300	6503	SO:0001583	missense			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210	23240	23240			29146	protein-coding gene	gene with protein product					NA	10231032, 11230166	Standard	NM_015196	NM_015196	NA	Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.4750C>A	4.37:g.154557648C>A	ENSP00000386574:p.Leu1584Met	NA	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	37	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766502	0.69878	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.37915	1.43;1.17;1.43;1.19	5.93	5.09	0.68999	.	0.000000	0.64402	D	0.000002	T	0.44644	0.1303	L	0.27053	0.805	0.52099	D	0.999946	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.45629	-0.9248	10	0.87932	D	0	-12.7261	9.5794	0.39479	0.0:0.8025:0.0:0.1975	.	1501;1585;1584	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	M	1584;1501;1585;1362	ENSP00000386574:L1584M;ENSP00000409663:L1501M;ENSP00000386787:L1585M;ENSP00000240487:L1362M	ENSP00000240487:L1362M	L	+	1	2	KIAA0922	154777098	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.719000	0.47244	1.509000	0.48786	0.655000	0.94253	CTG	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330370.1		+	ENST00000409663.3	Missense_Mutation	SNP	4 : 154557648 - 154557648 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	432	16
SYN3	8224	broad.mit.edu	37	22	33402568	33402568	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:33402568C>T	ENST00000358763.2	-	2	322	c.80G>A	c.(79-81)cGc>cAc	p.R27H	SYN3_ENST00000332840.5_Missense_Mutation_p.R27H	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	27	A.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GCTATCTGGGCGTTGCAGGTC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	110	108			NA	NA	22		NA											NA				33402568		2203	4300	6503	SO:0001583	missense			AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666	8224	8224			11496	protein-coding gene	gene with protein product		602705			NA	9539796	Standard		NM_003490	NA	Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.80G>A	22.37:g.33402568C>T	ENSP00000351614:p.Arg27His	NA		37	CCDS13908.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620197	0.66787	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000390686;ENST00000441821;ENST00000412575	T;T	0.39229	1.09;1.09	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000001	T	0.63450	0.2512	M	0.62723	1.935	0.47547	D	0.999454	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.98;0.971;0.98	T	0.65932	-0.6048	10	0.66056	D	0.02	-4.6075	18.8654	0.92290	0.0:1.0:0.0:0.0	.	27;27;27	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	H	27	ENSP00000351614:R27H;ENSP00000330219:R27H	ENSP00000330219:R27H	R	-	2	0	SYN3	31732568	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.908000	0.69916	2.509000	0.84616	0.557000	0.71058	CGC	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075892.4		-	ENST00000358763.2	Missense_Mutation	SNP	22 : 33402568 - 33402568 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	827	133
SEMA3D	223117	broad.mit.edu	37	7	84644469	84644469	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:84644469A>G	ENST00000284136.6	-	14	1652	c.1609T>C	c.(1609-1611)Tat>Cat	p.Y537H	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	537	PSI.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						GCTTTCCCATAAGTGTCGCAT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(63;442 1191 17318 29975 31528)							NA				0													149	137	141			NA	NA	7		NA											NA				84644469		2203	4300	6503	SO:0001583	missense			BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993	223117	223117		Semaphorins, Immunoglobulin superfamily / V-set domain containing	10726	protein-coding gene	gene with protein product		609907			NA		Standard	NM_152754	NM_152754	NA	Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1609T>C	7.37:g.84644469A>G	ENSP00000284136:p.Tyr537His	NA	A6NK46|Q6UW77|Q8NCQ1	37	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.686904	0.88639	.	.	ENSG00000153993	ENST00000284136	T	0.43294	0.95	5.75	5.75	0.90469	Semaphorin/CD100 antigen (1);	0.000000	0.85682	D	0.000000	T	0.65417	0.2689	M	0.74258	2.255	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.67484	-0.5659	10	0.52906	T	0.07	.	16.0459	0.80720	1.0:0.0:0.0:0.0	.	537	O95025	SEM3D_HUMAN	H	537	ENSP00000284136:Y537H	ENSP00000284136:Y537H	Y	-	1	0	SEMA3D	84482405	1.000000	0.71417	0.926000	0.36857	0.975000	0.68041	9.339000	0.96797	2.196000	0.70406	0.459000	0.35465	TAT	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336084.2		-	ENST00000284136.6	Missense_Mutation	SNP	7 : 84644469 - 84644469 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	396	101
RABEP2	79874	broad.mit.edu	37	16	28920040	28920040	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28920040G>A	ENST00000358201.4	-	8	1723	c.1135C>T	c.(1135-1137)Cgg>Tgg	p.R379W	RABEP2_ENST00000544477.1_Missense_Mutation_p.R308W|RABEP2_ENST00000357573.6_Missense_Mutation_p.R347W	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	379					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						TCATTCAACCGCTTTACCTCA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(66;639 1284 10093 31061 49099)							NA				0													136	139	138			NA	NA	16		NA											NA				28920040		2051	4191	6242	SO:0001583	missense			AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548	79874	79874			24817	protein-coding gene	gene with protein product		611869			NA	12477932	Standard	NM_024816	NM_024816	NA	Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.1135C>T	16.37:g.28920040G>A	ENSP00000350934:p.Arg379Trp	NA		37	CCDS42140.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500304	0.64298	.	.	ENSG00000177548	ENST00000358201;ENST00000357573;ENST00000544477	T;T;T	0.59083	0.29;0.29;0.29	4.78	2.71	0.32032	Rabaptin, GTPase-Rab5 binding (1);	0.305929	0.25106	N	0.033084	T	0.70202	0.3197	M	0.65498	2.005	0.34244	D	0.67799	D;D;D	0.76494	0.998;0.998;0.999	P;P;D	0.73380	0.907;0.85;0.98	T	0.77046	-0.2733	10	0.87932	D	0	-22.8773	9.8174	0.40860	0.0:0.0:0.6271:0.3729	.	308;347;379	B4DHR0;Q9H5N1-2;Q9H5N1	.;.;RABE2_HUMAN	W	379;347;308	ENSP00000350934:R379W;ENSP00000350186:R347W;ENSP00000442798:R308W	ENSP00000350186:R347W	R	-	1	2	RABEP2	28827541	1.000000	0.71417	0.977000	0.42913	0.911000	0.54048	2.256000	0.43231	0.384000	0.24942	0.462000	0.41574	CGG	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432691.1		-	ENST00000358201.4	Missense_Mutation	SNP	16 : 28920040 - 28920040 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1126	164
HCAR2	338442	broad.mit.edu	37	12	123187521	123187521	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123187521G>A	ENST00000328880.5	-	1	369	c.310C>T	c.(310-312)Ctc>Ttc	p.L104F	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	104					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	AACATGAAGAGCATCAGCCGG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	87	91			NA	NA	12		NA											NA				123187521		2203	4300	6503	SO:0001583	missense			AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782	338442	338442		GPCR / Class A : Hydroxy-carboxylic acid receptors	24827	protein-coding gene	gene with protein product	niacin receptor 1	609163	G protein-coupled receptor 109A	GPR109A	NA	21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551	NM_177551	NA	Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.310C>T	12.37:g.123187521G>A	ENSP00000375066:p.Leu104Phe	NA	A0PJL5|A7LGG3	37	CCDS9235.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107105	0.77096	.	.	ENSG00000182782	ENST00000328880;ENST00000536970	T	0.38722	1.12	5.65	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000015	T	0.56140	0.1965	M	0.67953	2.075	0.35664	D	0.812774	D	0.64830	0.994	D	0.71870	0.975	T	0.60999	-0.7151	10	0.09084	T	0.74	-29.4403	12.3652	0.55224	0.0802:0.0:0.9198:0.0	.	104	Q8TDS4	HCAR2_HUMAN	F	104	ENSP00000375066:L104F	ENSP00000375066:L104F	L	-	1	0	HCAR2	121753474	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.555000	0.60767	1.632000	0.50472	0.655000	0.94253	CTC	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370202.1		-	ENST00000328880.5	Missense_Mutation	SNP	12 : 123187521 - 123187521 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	399	82
PEX14	5195	broad.mit.edu	37	1	10689966	10689966	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10689966C>T	ENST00000356607.4	+	9	1136	c.1056C>T	c.(1054-1056)ggC>ggT	p.G352G	PEX14_ENST00000538836.1_Silent_p.G288G	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	352					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		ACCGCCGGGGCGGGGATGGGC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	154	165	162		1056	-4.7	1	1		162	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PEX14	NM_004565.2		0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077		352/378	10689966	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655	5195	5195			8856	protein-coding gene	gene with protein product		601791			NA	9653144	Standard		NM_004565	NA	Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.1056C>T	1.37:g.10689966C>T		NA	B2R7N1|B3KML6|B7Z1N2|Q8WX51	37	CCDS30582.1																																																																																			PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005414.1		+	ENST00000356607.4	Silent	SNP	1 : 10689966 - 10689966 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	74
NLRC4	58484	broad.mit.edu	37	2	32476155	32476155	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32476155C>A	ENST00000404025.2	-	5	1266	c.778G>T	c.(778-780)Gaa>Taa	p.E260*	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Nonsense_Mutation_p.E260*|NLRC4_ENST00000360906.5_Nonsense_Mutation_p.E260*			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	260	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GCTTCGATTTCTGGGCAGTTC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	105	108			NA	NA	2		NA											NA				32476155		2203	4300	6503	SO:0001587	stop_gained			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106	58484	58484		Nucleotide-binding domain and leucine rich repeat containing	16412	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4, NOD-like receptor C4	606831	caspase recruitment domain family, member 12	CARD12	NA	11374873	Standard	NM_021209	NM_021209	NA	Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.778G>T	2.37:g.32476155C>A	ENSP00000385090:p.Glu260*	NA	B2RBQ3|D6W580|Q96J81|Q96J82|Q96J83	37	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	C	37	6.210687	0.97380	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	.	.	.	3.27	3.27	0.37495	.	0.000000	0.48767	D	0.000163	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-13.4282	13.7957	0.63168	0.0:1.0:0.0:0.0	.	.	.	.	X	260	.	ENSP00000354159:E260X	E	-	1	0	NLRC4	32329659	1.000000	0.71417	0.937000	0.37676	0.911000	0.54048	2.663000	0.46774	1.836000	0.53414	0.543000	0.68304	GAA	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325222.2		-	ENST00000404025.2	Nonsense_Mutation	SNP	2 : 32476155 - 32476155 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	783	60
SLC6A17	388662	broad.mit.edu	37	1	110719341	110719341	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110719341C>T	ENST00000331565.4	+	6	1329	c.844C>T	c.(844-846)Cta>Tta	p.L282L		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	282					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TGATGGCATCCTACACATGTT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	120	130			NA	NA	1		NA											NA				110719341		2203	4300	6503	SO:0001819	synonymous_variant				CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106	388662	388662		Solute carriers	31399	protein-coding gene	gene with protein product		610299	solute carrier family 6 (neurotransmitter transporter), member 17, solute carrier family 6, member 17		NA		Standard	XM_371280	NM_001010898	NA	Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.844C>T	1.37:g.110719341C>T		NA	A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	37	CCDS30799.1																																																																																			SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032550.2		+	ENST00000331565.4	Silent	SNP	1 : 110719341 - 110719341 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	570	47
CCDC41	0	broad.mit.edu	37	12	94725559	94725559	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:94725559G>T	ENST00000397809.5	-	14	2173	c.1624C>A	c.(1624-1626)Ctt>Att	p.L542I	CCDC41_ENST00000339839.5_Missense_Mutation_p.L542I|CCDC41_ENST00000397807.2_Missense_Mutation_p.L509I	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN		534										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						CGCTCATGAAGCTTATGCTTT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													274	242	252			NA	NA	12		NA											NA				94725559		1893	4116	6009	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000397809.5:c.1624C>A	12.37:g.94725559G>T	ENSP00000380911:p.Leu542Ile	NA	A4FVB1|Q08AP1	37	CCDS41820.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177979	0.38413	.	.	ENSG00000173588	ENST00000552632;ENST00000339839;ENST00000397809;ENST00000397807	T;T;T;T	0.62105	1.98;1.98;1.98;0.05	5.79	3.96	0.45880	.	.	.	.	.	T	0.47746	0.1462	L	0.42245	1.32	0.32867	D	0.508704	B;B	0.31193	0.312;0.141	B;B	0.29524	0.103;0.028	T	0.51284	-0.8725	9	0.10902	T	0.67	-6.9572	8.4164	0.32674	0.2343:0.0:0.7657:0.0	.	509;534	Q9Y592-2;Q9Y592	.;CCD41_HUMAN	I	6;542;542;509	ENSP00000447094:L6I;ENSP00000344655:L542I;ENSP00000380911:L542I;ENSP00000380909:L509I	ENSP00000344655:L542I	L	-	1	0	CCDC41	93249690	0.996000	0.38824	0.998000	0.56505	0.965000	0.64279	1.990000	0.40717	1.459000	0.47892	0.655000	0.94253	CTT	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408147.3		-	ENST00000397809.5	Missense_Mutation	SNP	12 : 94725559 - 94725559 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	793	157
KSR1	8844	broad.mit.edu	37	17	25917918	25917918	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25917918C>T	ENST00000398988.3	+	8	1162	c.717C>T	c.(715-717)tgC>tgT	p.C239C	KSR1_ENST00000319524.6_Silent_p.C376C|KSR1_ENST00000509603.2_Silent_p.C376C|KSR1_ENST00000268763.6_Silent_p.C239C|KSR1_ENST00000581975.1_3'UTR	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	374					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GCAAGCATTGCAGGTGATGGG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(88;1120 1336 6324 10502 16832)							NA				0													43	44	44			NA	NA	17		NA											NA				25917918		2005	4184	6189	SO:0001819	synonymous_variant			U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068	8844	8844			6465	protein-coding gene	gene with protein product		601132	kinase suppressor of ras	KSR	NA	8521512	Standard	NM_014238	XM_006722151	NA	Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000398988.3:c.717C>T	17.37:g.25917918C>T		NA	Q13476	37	CCDS58532.1	.	.	.	.	.	.	.	.	.	.	c	15.31	2.795145	0.50208	.	.	ENSG00000141068	ENST00000398988	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5611	0.91100	0.0:1.0:0.0:0.0	.	.	.	.	X	112	.	.	Q	+	1	0	KSR1	22942045	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.621000	0.54210	2.647000	0.89833	0.486000	0.48141	CAG	KSR1-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255074.2		+	ENST00000398988.3	Silent	SNP	17 : 25917918 - 25917918 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	97	23
GP2	2813	broad.mit.edu	37	16	20331047	20331047	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20331047A>G	ENST00000302555.5	-	6	1051	c.902T>C	c.(901-903)gTc>gCc	p.V301A	GP2_ENST00000381360.5_Missense_Mutation_p.V157A|GP2_ENST00000573897.1_5'UTR|GP2_ENST00000341642.5_Missense_Mutation_p.V154A|GP2_ENST00000381362.4_Missense_Mutation_p.V304A			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	304	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GAAATCATTGACCAAGGAGAG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													449	418	429			NA	NA	16		NA											NA				20331047		2203	4300	6503	SO:0001583	missense			U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347	2813	2813			4441	protein-coding gene	gene with protein product		602977			NA	9605860	Standard	NM_016295	XM_005255259	NA	Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000302555.5:c.902T>C	16.37:g.20331047A>G	ENSP00000304044:p.Val301Ala	NA	A6NFM9|A6NJA8|Q13338|Q9UIF1	37	CCDS10582.2	.	.	.	.	.	.	.	.	.	.	A	1.176	-0.639563	0.03557	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	5.23	-0.144	0.13440	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	.	.	.	.	T	0.53948	0.1828	N	0.03194	-0.395	0.24878	N	0.992248	B;B;B;B	0.16166	0.001;0.016;0.001;0.001	B;B;B;B	0.23716	0.005;0.048;0.003;0.004	T	0.44620	-0.9316	9	0.02654	T	1	-6.6727	9.2908	0.37786	0.529:0.0:0.471:0.0	.	154;282;301;304	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	A	301;304;157;154;282	ENSP00000304044:V301A;ENSP00000370767:V304A;ENSP00000370765:V157A;ENSP00000343861:V154A	ENSP00000304044:V301A	V	-	2	0	GP2	20238548	0.017000	0.18338	0.922000	0.36590	0.670000	0.39368	-0.346000	0.07760	0.049000	0.15920	0.533000	0.62120	GTC	GP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254335.2		-	ENST00000302555.5	Missense_Mutation	SNP	16 : 20331047 - 20331047 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1239	217
IRF2BP2	359948	broad.mit.edu	37	1	234743289	234743289	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234743289C>A	ENST00000366609.3	-	2	1388	c.1358G>T	c.(1357-1359)aGg>aTg	p.R453M	IRF2BP2_ENST00000366610.3_Missense_Mutation_p.R437M|RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000491430.1_5'UTR	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			GTTGCTATTCCTCCTGGTAGT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	160	160			NA	NA	1		NA											NA				234743289		2203	4300	6503	SO:0001583	missense			AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264	359948	359948			21729	protein-coding gene	gene with protein product		615332			NA	12799427	Standard	NM_182972	NM_182972	NA	Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.1358G>T	1.37:g.234743289C>A	ENSP00000355568:p.Arg453Met	NA	B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	37	CCDS1602.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088416	0.76756	.	.	ENSG00000168264	ENST00000366610;ENST00000366609	T;T	0.34667	1.35;1.37	5.64	5.64	0.86602	.	0.050043	0.85682	D	0.000000	T	0.61123	0.2322	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.58819	-0.7569	10	0.48119	T	0.1	-10.4175	19.6878	0.95987	0.0:1.0:0.0:0.0	.	453;437	Q7Z5L9;Q7Z5L9-2	I2BP2_HUMAN;.	M	437;453	ENSP00000355569:R437M;ENSP00000355568:R453M	ENSP00000355568:R453M	R	-	2	0	IRF2BP2	232809912	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.341000	0.79300	2.670000	0.90874	0.655000	0.94253	AGG	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092705.1		-	ENST00000366609.3	Missense_Mutation	SNP	1 : 234743289 - 234743289 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1327	217
DOLK	22845	broad.mit.edu	37	9	131709434	131709434	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131709434G>A	ENST00000372586.3	-	1	464	c.149C>T	c.(148-150)gCa>gTa	p.A50V	RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	50					dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						GGCCTGCACTGCGAGGGCCAC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	74	75			NA	NA	9		NA											NA				131709434		2203	4300	6503	SO:0001583	missense			AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283	22845	22845			23406	protein-coding gene	gene with protein product	dolichol kinase 1	610746	transmembrane protein 15	TMEM15	NA	12975309, 16923818	Standard	NM_014908	NM_014908	NA	Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.149C>T	9.37:g.131709434G>A	ENSP00000361667:p.Ala50Val	NA	Q5SRE6	37	CCDS6915.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.716977	0.68844	.	.	ENSG00000175283	ENST00000372586;ENST00000515348	D	0.84070	-1.8	5.64	5.64	0.86602	.	0.169585	0.39544	N	0.001340	D	0.85340	0.5674	L	0.51422	1.61	0.58432	D	0.99999	P	0.49961	0.93	P	0.50440	0.641	D	0.86253	0.1650	10	0.62326	D	0.03	-12.3049	18.7019	0.91623	0.0:0.0:1.0:0.0	.	50	Q9UPQ8	DOLK_HUMAN	V	50	ENSP00000361667:A50V	ENSP00000361667:A50V	A	-	2	0	DOLK	130749255	1.000000	0.71417	0.976000	0.42696	0.994000	0.84299	7.601000	0.82783	2.655000	0.90218	0.462000	0.41574	GCA	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054515.1		-	ENST00000372586.3	Missense_Mutation	SNP	9 : 131709434 - 131709434 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	369	80
HPD	3242	broad.mit.edu	37	12	122295256	122295256	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122295256C>T	ENST00000543163.1	-	5	504	c.59G>A	c.(58-60)aGc>aAc	p.S20N	HPD_ENST00000289004.4_Missense_Mutation_p.S59N	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	59					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	GATTACATGGCTGACCACCTC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	80	80			NA	NA	12		NA											NA				122295256		2203	4300	6503	SO:0001583	missense			BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	3242	3242	1.13.11.27		5147	protein-coding gene	gene with protein product	glyoxalase domain containing 3	609695		PPD	NA		Standard	NM_002150	NM_001171993	NA	Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000543163.1:c.59G>A	12.37:g.122295256C>T	ENSP00000441677:p.Ser20Asn	NA	A8K461|Q13234	37	CCDS53839.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671351	0.88348	.	.	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	T;T	0.63913	-0.07;-0.07	5.48	4.54	0.55810	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.149579	0.64402	D	0.000008	T	0.72228	0.3434	M	0.90870	3.155	0.49915	D	0.999838	P	0.36330	0.548	B	0.41723	0.365	T	0.78094	-0.2338	10	0.72032	D	0.01	-48.2563	12.0439	0.53469	0.0:0.7096:0.2904:0.0	.	59	P32754	HPPD_HUMAN	N	59;56;20	ENSP00000289004:S59N;ENSP00000441677:S20N	ENSP00000289004:S59N	S	-	2	0	HPD	120779639	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	6.017000	0.70805	2.741000	0.93983	0.555000	0.69702	AGC	HPD-001	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402185.1		-	ENST00000543163.1	Missense_Mutation	SNP	12 : 122295256 - 122295256 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	544	74
SNX15	29907	broad.mit.edu	37	11	64803116	64803116	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64803116C>T	ENST00000377244.3	+	6	775	c.645C>T	c.(643-645)ttC>ttT	p.F215F	SNX15_ENST00000352068.5_Silent_p.F215F|RP11-399J13.3_ENST00000301886.3_3'UTR	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	215					cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						TTGCCCTCTTCGACCCCTTCT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(56;269 1304 3324 8253)							NA				0													69	70	69			NA	NA	11		NA											NA				64803116		2201	4297	6498	SO:0001819	synonymous_variant			AF175267	CCDS8089.1, CCDS8090.1	11q12	2008-05-22			ENSG00000110025	ENSG00000110025	29907	29907		Sorting nexins	14978	protein-coding gene	gene with protein product		605964			NA	11208079	Standard		NM_013306	NA	Approved			Q9NRS6	OTTHUMG00000037387	ENST00000377244.3:c.645C>T	11.37:g.64803116C>T		NA	Q9NRS5	37	CCDS8089.1																																																																																			SNX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091004.3		+	ENST00000377244.3	Silent	SNP	11 : 64803116 - 64803116 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	677	129
LLGL1	3996	broad.mit.edu	37	17	18138215	18138215	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18138215T>C	ENST00000316843.4	+	9	1064	c.968T>C	c.(967-969)gTa>gCa	p.V323A		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	323					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CGCCACTGTGTAAGTGTGCTT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	62	70			NA	NA	17		NA											NA				18138215		2203	4300	6503	SO:0001583	missense				CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899	3996	3996		WD repeat domain containing	6628	protein-coding gene	gene with protein product		600966	lethal giant larvae (Drosophila) homolog 1	DLG4, LLGL, HUGL, HUGL-1	NA	7542763, 8565641	Standard		XM_005256643	NA	Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.968T>C	17.37:g.18138215T>C	ENSP00000321537:p.Val323Ala	NA	A7MBM7|O00188|Q58F11|Q86UK6	37	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	T	30	5.056948	0.93846	.	.	ENSG00000131899	ENST00000316843	T	0.07908	3.15	5.61	5.61	0.85477	WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1);	0.118496	0.64402	D	0.000020	T	0.21674	0.0522	M	0.71206	2.165	0.53688	D	0.999977	P	0.52170	0.951	P	0.53035	0.716	T	0.00357	-1.1792	10	0.87932	D	0	-24.0971	14.8227	0.70085	0.0:0.0:0.0:1.0	.	323	Q15334	L2GL1_HUMAN	A	323	ENSP00000321537:V323A	ENSP00000321537:V323A	V	+	2	0	LLGL1	18078940	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	7.990000	0.88215	2.156000	0.67533	0.524000	0.50904	GTA	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132067.3		+	ENST00000316843.4	Missense_Mutation	SNP	17 : 18138215 - 18138215 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	183	22
VPS39	23339	broad.mit.edu	37	15	42481361	42481361	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42481361G>T	ENST00000318006.5	-	5	455	c.293C>A	c.(292-294)aCt>aAt	p.T98N	VPS39_ENST00000348544.4_Missense_Mutation_p.T109N	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	109	CNH.				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TGAAACCGTAGTGATTTGTTG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													211	176	188			NA	NA	15		NA											NA				42481361		2203	4299	6502	SO:0001583	missense			AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887	23339	23339			20593	protein-coding gene	gene with protein product		612188	vacuolar protein sorting 39 (yeast)		NA	11448994	Standard	NM_015289	XM_005254259	NA	Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000318006.5:c.293C>A	15.37:g.42481361G>T	ENSP00000326534:p.Thr98Asn	NA	O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	37	CCDS10083.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896044	0.72639	.	.	ENSG00000166887	ENST00000318006;ENST00000348544	T;T	0.04654	3.58;3.58	5.92	5.92	0.95590	Citron-like (2);	0.000000	0.85682	D	0.000000	T	0.08268	0.0206	L	0.54323	1.7	0.80722	D	1	P;P	0.45428	0.642;0.858	B;B	0.41666	0.288;0.363	T	0.42498	-0.9448	10	0.14252	T	0.57	-13.9161	20.3343	0.98733	0.0:0.0:1.0:0.0	.	109;98	Q96JC1;Q96JC1-2	VPS39_HUMAN;.	N	98;109	ENSP00000326534:T98N;ENSP00000335193:T109N	ENSP00000326534:T98N	T	-	2	0	VPS39	40268653	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.618000	0.98365	2.822000	0.97130	0.650000	0.86243	ACT	VPS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252861.1		-	ENST00000318006.5	Missense_Mutation	SNP	15 : 42481361 - 42481361 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	89
FTMT	94033	broad.mit.edu	37	5	121187676	121187676	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121187676G>A	ENST00000321339.1	+	1	27	c.18G>A	c.(16-18)agG>agA	p.R6R		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	6					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CCTGCTTCAGGCTCCTCTCCA	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	33	32			NA	NA	5		NA											NA				121187676		2201	4296	6497	SO:0001819	synonymous_variant			BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867	94033	94033			17345	protein-coding gene	gene with protein product		608847			NA	11323407	Standard	NM_177478	NM_177478	NA	Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.18G>A	5.37:g.121187676G>A		NA		37	CCDS4128.1																																																																																			FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250884.1		+	ENST00000321339.1	Silent	SNP	5 : 121187676 - 121187676 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	532	93
TF	7018	broad.mit.edu	37	3	133473446	133473446	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133473446G>A	ENST00000402696.3	+	4	918	c.433G>A	c.(433-435)Gct>Act	p.A145T	TF_ENST00000264998.3_Missense_Mutation_p.A18T|TF_ENST00000475382.1_3'UTR	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	145	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	AGGCAGGTCCGCTGGGTGGAA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	177	178			NA	NA	3		NA											NA				133473446		2203	4300	6503	SO:0001583	missense				CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513	7018	7018			11740	protein-coding gene	gene with protein product		190000			NA	6585826	Standard	NM_001063	NM_001063	NA	Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.433G>A	3.37:g.133473446G>A	ENSP00000385834:p.Ala145Thr	NA	O43890|Q1HBA5|Q9NQB8|Q9UHV0	37	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561710	0.65538	.	.	ENSG00000091513	ENST00000402696;ENST00000482271;ENST00000264998	T;T;T	0.40225	1.14;1.04;1.14	5.25	3.44	0.39384	.	0.092655	0.85682	D	0.000000	T	0.67135	0.2861	H	0.96970	3.915	0.51767	D	0.999938	D	0.56287	0.975	P	0.54590	0.756	T	0.74093	-0.3776	10	0.72032	D	0.01	-22.3783	9.3828	0.38325	0.0762:0.0:0.7801:0.1437	.	145	P02787	TRFE_HUMAN	T	145;18;18	ENSP00000385834:A145T;ENSP00000419338:A18T;ENSP00000264998:A18T	ENSP00000264998:A18T	A	+	1	0	TF	134956136	1.000000	0.71417	0.099000	0.21106	0.398000	0.30690	5.236000	0.65354	0.777000	0.33496	-0.254000	0.11334	GCT	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317775.1		+	ENST00000402696.3	Missense_Mutation	SNP	3 : 133473446 - 133473446 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1065	233
ANO3	63982	broad.mit.edu	37	11	26620437	26620437	+	Nonsense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26620437T>G	ENST00000256737.3	+	16	2415	c.1563T>G	c.(1561-1563)taT>taG	p.Y521*	ANO3_ENST00000537978.1_Nonsense_Mutation_p.Y505*|ANO3_ENST00000525139.1_Nonsense_Mutation_p.Y505*|ANO3_ENST00000531568.1_Nonsense_Mutation_p.Y375*	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	521						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AAGCCAAGTATTACAAGATGG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	66	68			NA	NA	11		NA											NA				26620437		2203	4299	6502	SO:0001587	stop_gained			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343	63982	63982		Ion channels / Chloride channels : Calcium activated : Anoctamins	14004	protein-coding gene	gene with protein product	transmembrane protein 16C (eight membrane-spanning domains)	610110	chromosome 11 open reading frame 25, transmembrane protein 16C	C11orf25, TMEM16C	NA	12739008, 15067359, 23200863, 24692353	Standard	NM_031418	NM_031418	NA	Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1563T>G	11.37:g.26620437T>G	ENSP00000256737:p.Tyr521*	NA		37	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	T	39	7.774718	0.98483	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	.	.	.	5.98	2.36	0.29203	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8325	0.35093	0.0:0.272:0.0:0.728	.	.	.	.	X	505;505;521;423;375	.	ENSP00000256737:Y521X	Y	+	3	2	ANO3	26577013	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	1.019000	0.30014	0.152000	0.19188	0.533000	0.62120	TAT	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387806.1		+	ENST00000256737.3	Nonsense_Mutation	SNP	11 : 26620437 - 26620437 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	176	23
MOK	5891	broad.mit.edu	37	14	102695660	102695660	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102695660C>T	ENST00000520266.1	-	0	627				MOK_ENST00000561150.1_Intron|MOK_ENST00000522867.1_3'UTR|MOK_ENST00000517966.1_3'UTR|MOK_ENST00000524214.1_Missense_Mutation_p.R379H|MOK_ENST00000193029.6_Intron|MOK_ENST00000519058.1_3'UTR|MOK_ENST00000522874.1_Missense_Mutation_p.R408H|MOK_ENST00000523231.1_3'UTR|MOK_ENST00000361847.2_Missense_Mutation_p.R409H|MOK_ENST00000522534.1_3'UTR|MOK_ENST00000524370.1_3'UTR			Q9UQ07	MOK_HUMAN	MOK protein kinase	NA					signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding	p.R409H(1)			NA						GGTGGGCAGGCGACACTGCTG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											63	62	62			NA	NA	14		NA											NA				102695660		2203	4300	6503	SO:0001623	5_prime_UTR_variant			AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823	5891	5891			9833	protein-coding gene	gene with protein product		605762	renal tumor antigen	RAGE	NA	8781117, 10421840	Standard		NM_014226	NA	Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000520266.1:c.-251G>A	14.37:g.102695660C>T		NA	Q92790|Q93067	37		.	.	.	.	.	.	.	.	.	.	C	4.720	0.133950	0.09032	.	.	ENSG00000080823	ENST00000522874;ENST00000361847;ENST00000524214	T;T;T	0.75589	-0.43;-0.49;-0.95	5.46	-0.693	0.11298	.	0.271371	0.34386	N	0.004016	T	0.50531	0.1621	N	0.17594	0.5	0.48087	D	0.999585	B;B	0.10296	0.003;0.002	B;B	0.04013	0.001;0.001	T	0.21143	-1.0254	10	0.13108	T	0.6	.	9.062	0.36440	0.0:0.4087:0.0:0.5913	.	379;409	E7ERR8;Q9UQ07	.;MOK_HUMAN	H	408;409;379	ENSP00000429469:R408H;ENSP00000355304:R409H;ENSP00000428942:R379H	ENSP00000355304:R409H	R	-	2	0	RAGE	101765413	0.620000	0.27068	0.480000	0.27341	0.124000	0.20399	0.202000	0.17295	0.021000	0.15133	0.561000	0.74099	CGC	MOK-027	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000381021.1		-	ENST00000520266.1	5'UTR	SNP	14 : 102695660 - 102695660 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	250	59
PHGDH	26227	broad.mit.edu	37	1	120284428	120284428	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120284428G>A	ENST00000369407.3	+	9	2522	c.1015G>A	c.(1015-1017)Gca>Aca	p.A339T	PHGDH_ENST00000482968.1_3'UTR|PHGDH_ENST00000369409.4_Missense_Mutation_p.A373T			O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	373					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	CCTAAGCCCCGCAGTCATTGT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	82	84			NA	NA	1		NA											NA				120284428		2203	4300	6503	SO:0001583	missense			BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	26227	26227	1.1.1.95		8923	protein-coding gene	gene with protein product		606879			NA		Standard	NM_006623	NM_006623	NA	Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	ENST00000369407.3:c.1015G>A	1.37:g.120284428G>A	ENSP00000358415:p.Ala339Thr	NA	B2RD08|Q5SZU3|Q9BQ01	37		.	.	.	.	.	.	.	.	.	.	.	15.47	2.843250	0.51057	.	.	ENSG00000092621	ENST00000369409;ENST00000537497;ENST00000369407	D;D	0.87103	-2.21;-2.21	5.39	4.48	0.54585	.	0.105284	0.64402	D	0.000005	D	0.86703	0.5996	M	0.68952	2.095	0.30683	N	0.752119	D;D;D;D	0.64830	0.982;0.982;0.994;0.99	P;P;P;P	0.57548	0.678;0.678;0.823;0.678	D	0.84014	0.0350	10	0.54805	T	0.06	-8.5858	11.8603	0.52461	0.0855:0.0:0.9145:0.0	.	339;339;246;373	B3KSC3;Q5SZU1;F5H634;O43175	.;.;.;SERA_HUMAN	T	373;246;339	ENSP00000358417:A373T;ENSP00000358415:A339T	ENSP00000358415:A339T	A	+	1	0	PHGDH	120085951	1.000000	0.71417	0.014000	0.15608	0.203000	0.24098	5.700000	0.68318	1.278000	0.44430	-0.136000	0.14681	GCA	PHGDH-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000033465.1		+	ENST00000369407.3	Missense_Mutation	SNP	1 : 120284428 - 120284428 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	388	46
USP32	84669	broad.mit.edu	37	17	58260584	58260584	+	Silent	SNP	G	G	A	rs144453913		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58260584G>A	ENST00000300896.4	-	31	4259	c.4065C>T	c.(4063-4065)gaC>gaT	p.D1355D	USP32_ENST00000592339.1_Silent_p.D1025D	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1355					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TCAGGAGCACGTCCTCTTCCC	0.577		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	75	68	71		4065	-2.1	0.1	17	dbSNP_134	71	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	USP32	NM_032582.3		0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154		1355/1605	58260584	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832	84669	84669		Ubiquitin-specific peptidases, EF-hand domain containing	19143	protein-coding gene	gene with protein product		607740	ubiquitin specific protease 32		NA	12838346	Standard	NM_032582	NM_032582	NA	Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.4065C>T	17.37:g.58260584G>A		NA	Q9BX85|Q9Y591	37	CCDS32697.1																																																																																			USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449235.2		-	ENST00000300896.4	Silent	SNP	17 : 58260584 - 58260584 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	441	79
RGS12	6002	broad.mit.edu	37	4	3317942	3317942	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3317942G>A	ENST00000382788.3	+	1	148	c.45G>A	c.(43-45)ccG>ccA	p.P15P	RGS12_ENST00000344733.5_Silent_p.P15P|RGS12_ENST00000336727.3_Silent_p.P15P|RGS12_ENST00000543385.1_Silent_p.P15P			O14924	RGS12_HUMAN	regulator of G-protein signaling 12	15						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGCCTGGGCCGTCGCCCCCAA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	0,4404		0,0,2202	67	81	76		45,45	-2.5	0	4		76	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	RGS12	NM_002926.3,NM_198229.2	,	0,1,6501	AA,AG,GG	NA	0.0116,0.0,0.0077	,	15/1377,15/1448	3317942	1,13003	2202	4300	6502	SO:0001819	synonymous_variant			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788	6002	6002		Regulators of G-protein signaling	9994	protein-coding gene	gene with protein product		602512	regulator of G-protein signalling 12		NA	9651375	Standard	NM_002926	NM_198229	NA	Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000382788.3:c.45G>A	4.37:g.3317942G>A		NA	B1AQ30|B1AQ31|B1AQ32|O14922|O14923|O43510|O75338	37	CCDS3367.1																																																																																			RGS12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206603.1		+	ENST00000382788.3	Silent	SNP	4 : 3317942 - 3317942 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	896	164
FREM2	341640	broad.mit.edu	37	13	39262299	39262299	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39262299G>A	ENST00000280481.7	+	1	1034	c.818G>A	c.(817-819)cGc>cAc	p.R273H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	273					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.R273H(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCCGCCAGTCGCTCACCAAAC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											57	60	59			NA	NA	13		NA											NA				39262299		2202	4299	6501	SO:0001583	missense			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893	341640	341640			25396	protein-coding gene	gene with protein product		608945			NA	15345741	Standard	NM_207361	NM_207361	NA	Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.818G>A	13.37:g.39262299G>A	ENSP00000280481:p.Arg273His	NA	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	9.263	1.043599	0.19748	.	.	ENSG00000150893	ENST00000280481	T	0.19250	2.16	5.81	0.771	0.18504	.	0.408176	0.27917	N	0.017334	T	0.13670	0.0331	L	0.46157	1.445	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.16070	-1.0415	10	0.39692	T	0.17	.	1.7756	0.03021	0.2427:0.1058:0.4352:0.2164	.	273	Q5SZK8	FREM2_HUMAN	H	273	ENSP00000280481:R273H	ENSP00000280481:R273H	R	+	2	0	FREM2	38160299	0.000000	0.05858	0.008000	0.14137	0.981000	0.71138	0.521000	0.22893	0.349000	0.23975	0.655000	0.94253	CGC	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044599.2		+	ENST00000280481.7	Missense_Mutation	SNP	13 : 39262299 - 39262299 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	641	55
VWA3B	200403	broad.mit.edu	37	2	98750327	98750327	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98750327C>A	ENST00000477737.1	+	7	1117	c.913C>A	c.(913-915)Cct>Act	p.P305T	VWA3B_ENST00000451075.2_Missense_Mutation_p.P155T|VWA3B_ENST00000435344.1_Missense_Mutation_p.P305T	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	305								p.P305S(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTAGAATTTCCTGCATTCTC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	NS(1)											290	274	279			NA	NA	2		NA											NA				98750327		2042	4196	6238	SO:0001583	missense			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658	200403	200403			28385	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_144992	NM_144992	NA	Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.913C>A	2.37:g.98750327C>A	ENSP00000417955:p.Pro305Thr	NA	B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	37	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629337	0.28978	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.22336	1.96;3.4;2.49	5.66	2.84	0.33178	.	0.306720	0.28219	N	0.016155	T	0.18718	0.0449	L	0.59436	1.845	0.09310	N	1	B;B;B	0.23442	0.04;0.085;0.066	B;B;B	0.19946	0.012;0.02;0.027	T	0.17592	-1.0364	10	0.24483	T	0.36	.	8.7159	0.34411	0.0:0.7487:0.0:0.2513	.	155;305;305	B7Z7Q7;Q502W6;Q502W6-8	.;VWA3B_HUMAN;.	T	305;305;155	ENSP00000401959:P305T;ENSP00000417955:P305T;ENSP00000389463:P155T	ENSP00000411168:P305T	P	+	1	0	VWA3B	98116759	0.001000	0.12720	0.112000	0.21494	0.007000	0.05969	0.480000	0.22244	0.730000	0.32425	-0.140000	0.14226	CCT	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353469.2		+	ENST00000477737.1	Missense_Mutation	SNP	2 : 98750327 - 98750327 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1338	210
TRPM1	4308	broad.mit.edu	37	15	31318431	31318431	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31318431G>A	ENST00000397795.2	-	26	3587	c.3474C>T	c.(3472-3474)ttC>ttT	p.F1158F	TRPM1_ENST00000542188.1_Silent_p.F1197F|RP11-348B17.1_ENST00000558755.1_RNA|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Silent_p.F1180F	NM_002420.5	NP_002411.3	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1158					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ACTGCTCCTCGAACTCATGCA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	57	56			NA	NA	15		NA											NA				31318431		2102	4233	6335	SO:0001819	synonymous_variant			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160	4308	4308		Voltage-gated ion channels / Transient receptor potential cation channels	7146	protein-coding gene	gene with protein product		603576	melastatin 1	MLSN1	NA	9806836, 9537257, 16382100	Standard	NM_002420	NM_001252020	NA	Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000397795.2:c.3474C>T	15.37:g.31318431G>A		NA	O75560|Q7Z4N1|Q7Z4N3|Q7Z4N4|Q7Z4N5	37	CCDS10024.2																																																																																			TRPM1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251378.1		-	ENST00000397795.2	Silent	SNP	15 : 31318431 - 31318431 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	196	42
OTUD7B	56957	broad.mit.edu	37	1	149937711	149937711	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149937711C>A	ENST00000369135.4	-	5	889	c.595G>T	c.(595-597)Gcc>Tcc	p.A199S	OTUD7B_ENST00000479905.1_5'UTR	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	NA	Catalytic.|OTU.|TRAF-binding.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CCAAGGGAGGCTGCATGCAGG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	53	52			NA	NA	1		NA											NA				149937711		2018	4176	6194	SO:0001583	missense			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522	56957	56957		OTU domain containing	16683	protein-coding gene	gene with protein product		611748	zinc finger, A20 domain containing 1, OTU domain containing 7B	ZA20D1	NA	11463333, 23827681	Standard	NM_020205	NM_020205	NA	Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.595G>T	1.37:g.149937711C>A	ENSP00000358131:p.Ala199Ser	NA	D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	37	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875619	0.91664	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.32988	1.43;1.43	5.09	5.09	0.68999	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.52058	0.1711	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.988	T	0.53215	-0.8470	9	.	.	.	-28.019	17.6655	0.88202	0.0:1.0:0.0:0.0	.	199;199	B7Z643;Q6GQQ9	.;OTU7B_HUMAN	S	199	ENSP00000358131:A199S;ENSP00000408231:A199S	.	A	-	1	0	OTUD7B	148204335	1.000000	0.71417	0.998000	0.56505	0.887000	0.51463	7.286000	0.78671	2.653000	0.90120	0.467000	0.42956	GCC	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034146.3		-	ENST00000369135.4	Missense_Mutation	SNP	1 : 149937711 - 149937711 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	146	23
CDKN2AIP	55602	broad.mit.edu	37	4	184368400	184368400	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184368400A>T	ENST00000504169.1	+	3	1770	c.1563A>T	c.(1561-1563)gaA>gaT	p.E521D	CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	521	DRBM.				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AAAGCAAAGAAAATGCAAAAG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	100	99			NA	NA	4		NA											NA				184368400		2203	4300	6503	SO:0001583	missense			AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564	55602	55602			24325	protein-coding gene	gene with protein product	collaborates/cooperates with ARF (alternate reading frame) protein	615914			NA	12154087, 16803988	Standard	NM_017632	NM_017632	NA	Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.1563A>T	4.37:g.184368400A>T	ENSP00000427108:p.Glu521Asp	NA	Q8TBM5|Q9NYH0	37	CCDS34110.1	.	.	.	.	.	.	.	.	.	.	A	10.08	1.253071	0.22965	.	.	ENSG00000168564	ENST00000504169	.	.	.	5.36	1.63	0.23807	Double-stranded RNA-binding (1);	0.000000	0.64402	D	0.000003	T	0.44767	0.1309	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.63793	0.918	T	0.35276	-0.9795	9	0.38643	T	0.18	-18.9966	8.8164	0.34998	0.6934:0.0:0.3066:0.0	.	521	Q9NXV6	CARF_HUMAN	D	521	.	ENSP00000427108:E521D	E	+	3	2	CDKN2AIP	184605394	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.661000	0.25023	0.482000	0.27582	0.459000	0.35465	GAA	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361488.1		+	ENST00000504169.1	Missense_Mutation	SNP	4 : 184368400 - 184368400 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	443	59
NEBL	10529	broad.mit.edu	37	10	21178809	21178809	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:21178809T>G	ENST00000377122.4	-	3	619	c.223A>C	c.(223-225)Aac>Cac	p.N75H	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000377119.1_Missense_Mutation_p.N75H|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	75				N -> T (in Ref. 2; AAF24858).	regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTTACATGGTTTAGCATAGGA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	100	100			NA	NA	10		NA											NA				21178809		2202	4300	6502	SO:0001583	missense			Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114	10529	10529			16932	protein-coding gene	gene with protein product		605491			NA	9733644, 10470015	Standard	NM_006393	NM_213569	NA	Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.223A>C	10.37:g.21178809T>G	ENSP00000366326:p.Asn75His	NA	B0YJ45|Q2TBD0|Q9UIC4	37	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.254167	0.80135	.	.	ENSG00000078114	ENST00000377122;ENST00000377119;ENST00000434381	T;T;T	0.32272	1.46;1.46;1.46	6.17	6.17	0.99709	.	0.317378	0.35067	N	0.003462	T	0.40448	0.1117	L	0.44542	1.39	0.80722	D	1	D	0.53151	0.958	P	0.53146	0.719	T	0.08868	-1.0701	10	0.44086	T	0.13	.	15.3933	0.74767	0.0:0.0:0.0:1.0	.	75	O76041	NEBL_HUMAN	H	75;75;59	ENSP00000366326:N75H;ENSP00000366323:N75H;ENSP00000396512:N59H	ENSP00000366323:N75H	N	-	1	0	NEBL	21218815	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	3.617000	0.54181	2.371000	0.80710	0.533000	0.62120	AAC	NEBL-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047113.1		-	ENST00000377122.4	Missense_Mutation	SNP	10 : 21178809 - 21178809 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	393	68
MEX3A	92312	broad.mit.edu	37	1	156047459	156047459	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156047459C>T	ENST00000532414.2	-	2	468	c.469G>A	c.(469-471)Gcc>Acc	p.A157T	MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	157	KH 1.					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					GCCCTCAAGGCCTTAATCTTG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	32	31			NA	NA	1		NA											NA				156047459		2095	4236	6331	SO:0001583	missense			AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726	92312	92312		RING-type (C3HC4) zinc fingers, Mex-3 homologs	33482	protein-coding gene	gene with protein product		611007	ring finger and KH domain containing 4, mex-3 homolog A (C. elegans)	RKHD4	NA	17267406	Standard	NM_001093725	NM_001093725	NA	Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.469G>A	1.37:g.156047459C>T	ENSP00000432845:p.Ala157Thr	NA		37	CCDS53377.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629529	0.87660	.	.	ENSG00000254726	ENST00000532414	T	0.30448	1.53	5.37	5.37	0.77165	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.42899	0.1223	L	0.55481	1.735	0.80722	D	1	D	0.71674	0.998	D	0.71870	0.975	T	0.17167	-1.0378	10	0.45353	T	0.12	.	17.6757	0.88230	0.0:1.0:0.0:0.0	.	157	A1L020	MEX3A_HUMAN	T	157	ENSP00000432845:A157T	ENSP00000432845:A157T	A	-	1	0	MEX3A	154314083	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.999000	0.70665	2.527000	0.85204	0.462000	0.41574	GCC	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046218.3		-	ENST00000532414.2	Missense_Mutation	SNP	1 : 156047459 - 156047459 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	137	33
M1AP	130951	broad.mit.edu	37	2	74802682	74802682	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74802682G>A	ENST00000409585.1	-	6	1008	c.957C>T	c.(955-957)tgC>tgT	p.C319C	M1AP_ENST00000358434.2_Silent_p.C37C|M1AP_ENST00000290536.5_Silent_p.C319C|M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000536235.1_Silent_p.C319C					meiosis 1 associated protein	NA											NA						TCAATGACTCGCAGAGCCCGC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	107	108			NA	NA	2		NA											NA				74802682		2203	4300	6503	SO:0001819	synonymous_variant				CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374	130951	130951			25183	protein-coding gene	gene with protein product	meiosis 1 arresting protein, spermatogenesis associated 37		chromosome 2 open reading frame 65	C2orf65	NA	16881047, 23269666	Standard	NM_138804	NM_138804	NA	Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000409585.1:c.957C>T	2.37:g.74802682G>A		NA		37																																																																																				M1AP-002	NOVEL	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000328570.1		-	ENST00000409585.1	Silent	SNP	2 : 74802682 - 74802682 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	692	182
HTR3A	3359	broad.mit.edu	37	11	113857382	113857382	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113857382G>A	ENST00000504030.2	+	7	1293	c.848G>A	c.(847-849)gGc>gAc	p.G283D	HTR3A_ENST00000355556.2_Missense_Mutation_p.G289D|HTR3A_ENST00000299961.5_Missense_Mutation_p.G268D|HTR3A_ENST00000506841.2_Missense_Mutation_p.G283D|HTR3A_ENST00000535865.1_Missense_Mutation_p.G27D|HTR3A_ENST00000375498.2_Missense_Mutation_p.G289D			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	283					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CTCCTCCTGGGCTACTCGGTC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	80	88			NA	NA	11		NA											NA				113857382		2201	4296	6497	SO:0001583	missense			D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03				3359	3359		5-HT (serotonin) receptors, Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic	5297	protein-coding gene	gene with protein product		182139	5-hydroxytryptamine (serotonin) receptor 3A	HTR3	NA	8530095, 12867984	Standard	NM_000869	NM_000869	NA	Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.848G>A	11.37:g.113857382G>A	ENSP00000424189:p.Gly283Asp	NA	O60854|Q99918|Q9BSZ9	37		.	.	.	.	.	.	.	.	.	.	G	24.5	4.540559	0.85917	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	D;T;D;T;D;D	0.85258	-1.96;-0.62;-1.96;-0.62;-1.96;-1.96	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.93667	0.7977	M	0.88310	2.945	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	D	0.94826	0.7991	10	0.87932	D	0	-31.8021	18.4412	0.90667	0.0:0.0:1.0:0.0	.	268;289;289	B4DSY6;G5E986;Q7KZM7	.;.;.	D	283;289;289;283;27;268	ENSP00000424189:G283D;ENSP00000347754:G289D;ENSP00000364648:G289D;ENSP00000424776:G283D;ENSP00000437776:G27D;ENSP00000299961:G268D	ENSP00000299961:G268D	G	+	2	0	HTR3A	113362592	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.813000	0.99286	2.421000	0.82119	0.561000	0.74099	GGC	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000360822.2		+	ENST00000504030.2	Missense_Mutation	SNP	11 : 113857382 - 113857382 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	507	51
ZSCAN9	7746	broad.mit.edu	37	6	28195016	28195016	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28195016C>T	ENST00000425468.2	+	2	319	c.154C>T	c.(154-156)Cga>Tga	p.R52*	ZSCAN9_ENST00000531979.1_Nonsense_Mutation_p.R52*|ZSCAN9_ENST00000531981.1_Nonsense_Mutation_p.R52*|ZSCAN9_ENST00000252207.5_Nonsense_Mutation_p.R52*|ZSCAN9_ENST00000527436.1_Nonsense_Mutation_p.R52*	NM_001199479.1	NP_001186408.1			zinc finger and SCAN domain containing 9	NA											NA						GGAAATCTTCCGAAGGCACTT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	69	71			NA	NA	6		NA											NA				28195016		2203	4300	6503	SO:0001587	stop_gained			U62392	CCDS4646.1, CCDS56407.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000137185	ENSG00000137185	7746	7746		-, Zinc fingers, C2H2-type	12984	protein-coding gene	gene with protein product		602246	zinc finger protein 193	ZNF193	NA		Standard	NM_006299	NM_001199479	NA	Approved	PRD51	uc003nkq.2	O15535	OTTHUMG00000014515	ENST00000425468.2:c.154C>T	6.37:g.28195016C>T	ENSP00000404074:p.Arg52*	NA		37	CCDS56407.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.563399	0.65651	.	.	ENSG00000137185	ENST00000425468;ENST00000252207;ENST00000531979;ENST00000527436;ENST00000527844	.	.	.	3.07	1.27	0.21489	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.2508	0.15521	0.0:0.7216:0.0:0.2784	.	.	.	.	X	52	.	ENSP00000252207:R52X	R	+	1	2	ZNF193	28302995	0.261000	0.24063	0.450000	0.26969	0.958000	0.62258	0.665000	0.25083	0.323000	0.23307	-0.258000	0.10820	CGA	ZSCAN9-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383022.1		+	ENST00000425468.2	Nonsense_Mutation	SNP	6 : 28195016 - 28195016 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	305	50
TIMM22	29928	broad.mit.edu	37	17	902750	902750	+	Splice_Site	SNP	A	A	G	rs141823779		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:902750A>G	ENST00000327158.4	+	3	461		c.e3-1			NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22 homolog (yeast)	NA					transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity			breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CCCTGCCCACAGTACCGGGGA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								A		1,4405	2.1+/-5.4	0,1,2202	270	233	245			5.7	1	17	dbSNP_134	245	0,8600		0,0,4300	no	splice-3	TIMM22	NM_013337.2		0,1,6502	GG,GA,AA	NA	0.0,0.0227,0.0077			902750	1,13005	2203	4300	6503	SO:0001630	splice_region_variant			AF155330	CCDS32521.1	17p13	2008-02-05	2003-07-22			ENSG00000177370	29928	29928			17317	protein-coding gene	gene with protein product		607251	testis-expressed sequence 4	TEX4	NA		Standard	NM_013337	NM_013337	NA	Approved		uc002fsc.3	Q9Y584		ENST00000327158.4:c.436-1A>G	17.37:g.902750A>G		NA	Q9NWI8	37	CCDS32521.1	.	.	.	.	.	.	.	.	.	.	A	16.10	3.025922	0.54683	2.27E-4	0.0	ENSG00000177370	ENST00000327158	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0767	0.72082	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TIMM22	849500	1.000000	0.71417	1.000000	0.80357	0.476000	0.33039	8.864000	0.92294	2.150000	0.67090	0.533000	0.62120	.	TIMM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450107.2	Intron	+	ENST00000327158.4	Splice_Site	SNP	17 : 902750 - 902750 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	705	125
DICER1	23405	broad.mit.edu	37	14	95590927	95590927	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95590927C>A	ENST00000526495.1	-	10	1273	c.982G>T	c.(982-984)Gaa>Taa	p.E328*	DICER1_ENST00000541352.1_Nonsense_Mutation_p.E328*|DICER1_ENST00000343455.3_Nonsense_Mutation_p.E328*|DICER1_ENST00000527414.1_Nonsense_Mutation_p.E328*|DICER1_ENST00000393063.1_Nonsense_Mutation_p.E328*			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	328	Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TTCTGTAGTTCTCTTACCATC	0.378		NA	Mis F, N		sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	dicer 1, ribonuclease type III 		E, M, O	0													95	94	94			NA	NA	14		NA											NA				95590927		2203	4300	6503	SO:0001587	stop_gained	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697	23405	23405			17098	protein-coding gene	gene with protein product	dicer 1, double-stranded RNA-specific endoribonuclease	606241	Dicer1, Dcr-1 homolog (Drosophila), multinodular goitre 1	MNG1	NA	10051563, 10786632, 21205968	Standard		NM_177438	NA	Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.982G>T	14.37:g.95590927C>A	ENSP00000437256:p.Glu328*	NA	A7E2D3|O95943|Q9UQ02	37	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	41	8.909045	0.98998	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-27.7842	19.4888	0.95042	0.0:1.0:0.0:0.0	.	.	.	.	X	328	.	ENSP00000343745:E328X	E	-	1	0	DICER1	94660680	1.000000	0.71417	0.656000	0.29637	0.992000	0.81027	7.267000	0.78462	2.607000	0.88179	0.585000	0.79938	GAA	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387997.1		-	ENST00000526495.1	Nonsense_Mutation	SNP	14 : 95590927 - 95590927 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	521	22
PGM2L1	283209	broad.mit.edu	37	11	74049647	74049647	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74049647C>A	ENST00000298198.4	-	13	1944		c.e13-1			NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	NA					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					CAGGCAGCACCTATGCAAAAT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	90	94			NA	NA	11		NA											NA				74049647		2200	4293	6493	SO:0001630	splice_region_variant			AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434	283209	283209			20898	protein-coding gene	gene with protein product	glucose-1,6-bisphosphate synthase	611610			NA	17804405	Standard	NM_173582	NM_173582	NA	Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.1633-1G>T	11.37:g.74049647C>A		NA	Q96MQ7|Q9UIK3	37	CCDS8231.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403256	0.62288	.	.	ENSG00000165434	ENST00000298198	.	.	.	5.5	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4863	0.55874	0.0:0.9183:0.0:0.0817	.	.	.	.	.	-1	.	.	.	-	.	.	PGM2L1	73727295	1.000000	0.71417	0.993000	0.49108	0.777000	0.43975	7.484000	0.81180	1.460000	0.47911	0.563000	0.77884	.	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398324.1	Intron	-	ENST00000298198.4	Splice_Site	SNP	11 : 74049647 - 74049647 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	472	71
CREB3L2	64764	broad.mit.edu	37	7	137612945	137612945	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137612945C>T	ENST00000458726.1	-	2	295	c.81G>A	c.(79-81)cgG>cgA	p.R27R	CREB3L2_ENST00000452463.1_Silent_p.R90R|CREB3L2_ENST00000330387.6_Silent_p.R90R|CREB3L2_ENST00000456390.1_Silent_p.R90R			Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	90					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GCGACTGGGCCCGAGGCTCCT	0.587		NA	T	FUS	fibromyxoid sarcoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		7	7q34	64764	cAMP responsive element binding protein 3-like 2		M	0													52	41	45			NA	NA	7		NA											NA				137612945		2202	4300	6502	SO:0001819	synonymous_variant			AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158	64764	64764		basic leucine zipper proteins	23720	protein-coding gene	gene with protein product		608834			NA		Standard	NM_194071	NM_194071	NA	Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000458726.1:c.81G>A	7.37:g.137612945C>T		NA	Q6P454|Q6ZMR6	37		.	.	.	.	.	.	.	.	.	.	C	12.44	1.938089	0.34189	.	.	ENSG00000182158	ENST00000420629	T	0.57595	0.39	5.42	1.3	0.21679	.	.	.	.	.	T	0.56077	0.1961	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55108	-0.8192	6	0.87932	D	0	-8.1521	6.3579	0.21412	0.0:0.3595:0.3711:0.2694	.	.	.	.	E	24	ENSP00000402889:G24E	ENSP00000402889:G24E	G	-	2	0	CREB3L2	137263485	0.645000	0.27286	0.996000	0.52242	0.990000	0.78478	-0.387000	0.07361	0.251000	0.21505	0.655000	0.94253	GGG	CREB3L2-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000341466.2		-	ENST00000458726.1	Silent	SNP	7 : 137612945 - 137612945 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	86	17
WAC	51322	broad.mit.edu	37	10	28878779	28878779	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28878779A>C	ENST00000375664.4	+	5	970	c.361A>C	c.(361-363)Aga>Cga	p.R121R	WAC_ENST00000428935.1_Splice_Site_p.R121R|WAC_ENST00000354911.4_Splice_Site_p.R166R|WAC_ENST00000375646.1_Splice_Site_p.R121R|WAC_ENST00000347934.4_Splice_Site_p.R166R			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	NA					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						GTGGCTTGAAAGGTAATTAGC	0.323		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	10		NA											NA				28878779		2203	4299	6502	SO:0001630	splice_region_variant			AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787	51322	51322			17327	protein-coding gene	gene with protein product		615049	WW domain-containing adaptor with coiled coil		NA	11827461	Standard	NM_100264	NR_024557	NA	Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000375664.4:c.362+1A>C	10.37:g.28878779A>C		NA	A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	37																																																																																				WAC-016	KNOWN	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000047370.2	Silent	+	ENST00000375664.4	Splice_Site	SNP	10 : 28878779 - 28878779 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	61
COX4I2	84701	broad.mit.edu	37	20	30227779	30227779	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30227779C>A	ENST00000376075.3	+	3	201	c.126C>A	c.(124-126)gcC>gcA	p.A42A	COX4I2_ENST00000490030.1_3'UTR	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	42					cellular respiration		cytochrome-c oxidase activity			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			ACTGCTATGCCCAGCGCTACT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	67	71			NA	NA	20		NA											NA				30227779		2203	4300	6503	SO:0001819	synonymous_variant			AF257180	CCDS13187.1	20q11.21	2011-07-04	2004-08-11		ENSG00000131055	ENSG00000131055	84701	84701		Mitochondrial respiratory chain complex / Complex IV	16232	protein-coding gene	gene with protein product	cytochrome c oxidase subunit IV-like 2	607976	cytochrome c oxidase subunit IV isoform 2	COX4L2	NA	11311561, 17937768	Standard	NM_032609	NM_032609	NA	Approved	COXIV-2, COX4B, dJ857M17.2, COX4-2	uc002wwj.1	Q96KJ9	OTTHUMG00000032180	ENST00000376075.3:c.126C>A	20.37:g.30227779C>A		NA	Q6GTF4|Q9H0Z4	37	CCDS13187.1																																																																																			COX4I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078548.1		+	ENST00000376075.3	Silent	SNP	20 : 30227779 - 30227779 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	314	42
PRR14	78994	broad.mit.edu	37	16	30666370	30666370	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30666370G>A	ENST00000542965.2	+	7	1535	c.1079G>A	c.(1078-1080)cGg>cAg	p.R360Q	PRR14_ENST00000300835.4_Missense_Mutation_p.R360Q|PRR14_ENST00000571654.1_Intron			Q9BWN1	PRR14_HUMAN	proline rich 14	360	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CCACGGCCGCGGCGGCACACT	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	30	28			NA	NA	16		NA											NA				30666370		2192	4295	6487	SO:0001583	missense			AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858	78994	78994			28458	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024031	NM_024031	NA	Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.1079G>A	16.37:g.30666370G>A	ENSP00000441641:p.Arg360Gln	NA	Q8WTX2	37	CCDS10687.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575059	0.86542	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.52057	0.68;0.68	5.37	5.37	0.77165	.	0.457720	0.20325	N	0.094558	T	0.67078	0.2855	M	0.67953	2.075	0.33381	D	0.574913	D	0.89917	1.0	D	0.83275	0.996	T	0.73594	-0.3933	10	0.42905	T	0.14	-12.9856	16.0349	0.80617	0.0:0.0:1.0:0.0	.	360	Q9BWN1	PRR14_HUMAN	Q	333;360;360	ENSP00000300835:R360Q;ENSP00000441641:R360Q	ENSP00000287463:R333Q	R	+	2	0	PRR14	30573871	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.502000	0.66956	2.507000	0.84556	0.563000	0.77884	CGG	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434433.1		+	ENST00000542965.2	Missense_Mutation	SNP	16 : 30666370 - 30666370 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	455	98
TLE2	7089	broad.mit.edu	37	19	3006594	3006594	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3006594C>T	ENST00000262953.6	-	15	1586	c.1324G>A	c.(1324-1326)Gcg>Acg	p.A442T	TLE2_ENST00000455444.2_Missense_Mutation_p.A320T|TLE2_ENST00000443826.3_Missense_Mutation_p.A320T|TLE2_ENST00000591529.1_Missense_Mutation_p.A456T|TLE2_ENST00000426948.2_Missense_Mutation_p.A456T|TLE2_ENST00000590536.1_Missense_Mutation_p.A443T|TLE2_ENST00000447365.2_Missense_Mutation_p.A109T|TLE2_ENST00000586422.1_Intron	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	442					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		GGGATGCCCGCGCCTACCAGT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	18	17			NA	NA	19		NA											NA				3006594		2075	4203	6278	SO:0001583	missense			M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07				7089	7089		WD repeat domain containing	11838	protein-coding gene	gene with protein product	enhancer of split groucho 2	601041	transducin-like enhancer of split 2, homolog of Drosophila E(sp1), transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)		NA	8808280	Standard	NM_003260	NM_003260	NA	Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.1324G>A	19.37:g.3006594C>T	ENSP00000262953:p.Ala442Thr	NA	Q8WVY0|Q9Y6S0	37	CCDS45911.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729813	0.48833	.	.	ENSG00000065717	ENST00000262953;ENST00000455444;ENST00000450017;ENST00000447365;ENST00000443826;ENST00000426948;ENST00000439015	T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8	3.87	-0.643	0.11482	WD40 repeat-like-containing domain (1);	0.333784	0.33496	N	0.004855	T	0.03827	0.0108	N	0.15975	0.35	0.26651	N	0.972095	B;B;B;B;B;B	0.29716	0.255;0.001;0.003;0.003;0.001;0.001	B;B;B;B;B;B	0.15484	0.013;0.0;0.002;0.003;0.0;0.0	T	0.30238	-0.9985	10	0.52906	T	0.07	-20.3281	1.0155	0.01506	0.1583:0.2763:0.1551:0.4103	.	350;320;109;456;320;442	B4DZU9;E9PEV7;B4DE62;F8WCH2;B4DE03;Q04725	.;.;.;.;.;TLE2_HUMAN	T	442;320;436;109;320;456;350	ENSP00000262953:A442T;ENSP00000413107:A320T;ENSP00000406523:A109T;ENSP00000392427:A320T;ENSP00000392869:A456T	ENSP00000262953:A442T	A	-	1	0	TLE2	2957594	0.965000	0.33210	0.620000	0.29132	0.832000	0.47134	0.456000	0.21859	0.086000	0.17137	0.456000	0.33151	GCG	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452194.2		-	ENST00000262953.6	Missense_Mutation	SNP	19 : 3006594 - 3006594 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	97	17
TMEM150C	441027	broad.mit.edu	37	4	83411247	83411247	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83411247G>T	ENST00000508701.1	-	0	556				TMEM150C_ENST00000515780.2_Missense_Mutation_p.L170M|TMEM150C_ENST00000449862.2_Missense_Mutation_p.L170M			B9EJG8	T150C_HUMAN	transmembrane protein 150C	NA						integral to membrane				ovary(1)	1						GATGCCGACAGAATAACCCGT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													193	196	195			NA	NA	4		NA											NA				83411247		1916	4138	6054	SO:0001624	3_prime_UTR_variant			BC147027	CCDS47087.1	4q21.22	2010-06-25			ENSG00000249242	ENSG00000249242	441027	441027			37263	protein-coding gene	gene with protein product					NA		Standard	NM_001080506	NM_001080506	NA	Approved	FLJ12993	uc003hmy.1	B9EJG8	OTTHUMG00000161083	ENST00000508701.1:c.*134C>A	4.37:g.83411247G>T		NA	B7Z4J5|B7Z4L3|B7Z692|B7Z6X6	37		.	.	.	.	.	.	.	.	.	.	G	12.96	2.095722	0.36952	.	.	ENSG00000249242	ENST00000449862;ENST00000515780	T;T	0.53857	0.6;0.6	5.62	4.77	0.60923	.	.	.	.	.	T	0.69459	0.3113	M	0.79011	2.435	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.71144	-0.4678	9	0.56958	D	0.05	-5.2962	8.4395	0.32808	0.292:0.0:0.708:0.0	.	170	B9EJG8	T150C_HUMAN	M	170	ENSP00000403438:L170M;ENSP00000420919:L170M	ENSP00000403438:L170M	L	-	1	2	TMEM150C	83630271	1.000000	0.71417	0.841000	0.33234	0.108000	0.19459	2.295000	0.43576	1.337000	0.45525	0.462000	0.41574	CTG	TMEM150C-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000363689.1		-	ENST00000508701.1	3'UTR	SNP	4 : 83411247 - 83411247 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	89
LCP1	3936	broad.mit.edu	37	13	46716542	46716542	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46716542C>T	ENST00000398576.2	-	16	1775	c.1387G>A	c.(1387-1389)Gcg>Acg	p.A463T	LCP1_ENST00000435666.2_Missense_Mutation_p.A32T|LCP1_ENST00000323076.2_Missense_Mutation_p.A463T			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	463	Actin-binding 2.|CH 3.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		AATTCTACCGCGTAGTTACAA	0.388		NA	T	BCL6	NHL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		13	13q14.1-q14.3	3936	lymphocyte cytosolic protein 1 (L-plastin)		L	0													129	109	116			NA	NA	13		NA											NA				46716542		2203	4300	6503	SO:0001583	missense			M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167	3936	3936		EF-hand domain containing	6528	protein-coding gene	gene with protein product	plastin 2	153430			NA	2111166	Standard	NM_002298	NM_002298	NA	Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1387G>A	13.37:g.46716542C>T	ENSP00000381581:p.Ala463Thr	NA	B2R613|Q5TBN4	37	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392492	0.83011	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000435666	D;D;D	0.97089	-4.24;-4.24;-4.24	5.64	5.64	0.86602	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98551	0.9516	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.97110	0.903;1.0	D	0.98678	1.0691	10	0.45353	T	0.12	-15.0268	18.6878	0.91571	0.0:1.0:0.0:0.0	.	32;463	B4DUA0;P13796	.;PLSL_HUMAN	T	463;463;32	ENSP00000315757:A463T;ENSP00000381581:A463T;ENSP00000405134:A32T	ENSP00000315757:A463T	A	-	1	0	LCP1	45614543	1.000000	0.71417	0.994000	0.49952	0.261000	0.26267	7.818000	0.86416	2.662000	0.90505	0.655000	0.94253	GCG	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044800.3		-	ENST00000398576.2	Missense_Mutation	SNP	13 : 46716542 - 46716542 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	449	90
DDR2	4921	broad.mit.edu	37	1	162737131	162737131	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162737131G>A	ENST00000367922.3	+	12	1713	c.1275G>A	c.(1273-1275)tgG>tgA	p.W425*	DDR2_ENST00000367921.3_Nonsense_Mutation_p.W425*	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	NA					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			GGCAGTTCTGGCAGAAAATGC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(161;314 2006 8283 19651 23192)							NA				0													97	88	91			NA	NA	1		NA											NA				162737131		2203	4300	6503	SO:0001587	stop_gained			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	4921	4921	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	discoidin domain receptor family, member 2	TYRO10, NTRKR3	NA	9659899	Standard	NM_006182	XM_005245221	NA	Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.1275G>A	1.37:g.162737131G>A	ENSP00000356899:p.Trp425*	NA	Q7Z730	37	CCDS1241.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.272855|6.272855	0.97431|0.97431	.|.	.|.	ENSG00000162733|ENSG00000162733	ENST00000433757|ENST00000367922;ENST00000367921;ENST00000458105	.|.	.|.	.|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.56963|.	0.2021|.	.|.	.|.	.|.	.|0.80722	.|D	.|1.000000	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.50915|.	-0.8771|.	3|.	.|0.18276	.|T	.|0.48	.|.	18.6038|18.6038	0.91259|0.91259	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	T|X	18|425;425;35	.|.	.|ENSP00000356898:W425X	A|W	+|+	1|3	0|0	DDR2|DDR2	161003755|161003755	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.295000|9.295000	0.96095|0.96095	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	GCA|TGG	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083213.2		+	ENST00000367922.3	Nonsense_Mutation	SNP	1 : 162737131 - 162737131 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	66
SLC24A4	123041	broad.mit.edu	37	14	92909751	92909751	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92909751G>A	ENST00000532405.1	+	7	816	c.590G>A	c.(589-591)cGt>cAt	p.R197H	SLC24A4_ENST00000351924.5_Missense_Mutation_p.R180H|SLC24A4_ENST00000531433.1_Missense_Mutation_p.R197H|SLC24A4_ENST00000298877.1_Missense_Mutation_p.R180H|SLC24A4_ENST00000393265.2_Missense_Mutation_p.R133H			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	197						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CAGGTGGTCCGTCTGACGTGG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(10;315 435 10383 28450 38798)							NA				0													149	106	120			NA	NA	14		NA											NA				92909751		2203	4300	6503	SO:0001583	missense			AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090	123041	123041		Solute carriers	10978	protein-coding gene	gene with protein product		609840			NA		Standard	NM_153646	NM_153646	NA	Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.590G>A	14.37:g.92909751G>A	ENSP00000431840:p.Arg197His	NA	B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	37	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	G	6.791	0.514922	0.12944	.	.	ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924	T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03	4.89	1.46	0.22682	Sodium/calcium exchanger membrane region (1);	0.573016	0.19313	N	0.117344	T	0.38214	0.1032	N	0.12611	0.24	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.10450	0.002;0.002;0.005	T	0.18681	-1.0329	10	0.28530	T	0.3	.	7.6125	0.28139	0.175:0.1392:0.6858:0.0	.	197;133;197	Q8NFF2-3;Q8NFF2-2;Q8NFF2	.;.;NCKX4_HUMAN	H	133;197;197;180;180	ENSP00000376948:R133H;ENSP00000433302:R197H;ENSP00000431840:R197H;ENSP00000298877:R180H;ENSP00000337789:R180H	ENSP00000298877:R180H	R	+	2	0	SLC24A4	91979504	0.837000	0.29446	0.110000	0.21437	0.929000	0.56500	1.395000	0.34520	0.459000	0.27016	0.462000	0.41574	CGT	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395240.1		+	ENST00000532405.1	Missense_Mutation	SNP	14 : 92909751 - 92909751 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	299	60
NFYC	4802	broad.mit.edu	37	1	41223914	41223914	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41223914C>T	ENST00000372652.1	+	6	777	c.509C>T	c.(508-510)aCg>aTg	p.T170M	NFYC_ENST00000456393.2_Missense_Mutation_p.T170M|NFYC_ENST00000308733.5_Missense_Mutation_p.T170M|NFYC_ENST00000427410.2_Missense_Mutation_p.T132M|NFYC_ENST00000372654.1_Missense_Mutation_p.T170M|NFYC_ENST00000372651.1_Missense_Mutation_p.T170M|NFYC_ENST00000372653.1_Missense_Mutation_p.T170M|NFYC_ENST00000440226.3_Missense_Mutation_p.T170M|NFYC_ENST00000447388.3_Missense_Mutation_p.T170M|NFYC_ENST00000425457.2_Missense_Mutation_p.T170M			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	170					protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			ACCAGCTCCACGACCACCATC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	49	51			NA	NA	1		NA											NA				41223914		2203	4300	6503	SO:0001583	missense			U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136	4802	4802			7806	protein-coding gene	gene with protein product		605344			NA	8921405, 9249075	Standard	NM_014223	NM_014223	NA	Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729	ENST00000372652.1:c.509C>T	1.37:g.41223914C>T	ENSP00000361736:p.Thr170Met	NA	D3DPV9|Q5T6K8|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	37		.	.	.	.	.	.	.	.	.	.	C	21.5	4.162681	0.78226	.	.	ENSG00000066136	ENST00000427410;ENST00000447388;ENST00000425457;ENST00000456393;ENST00000372658;ENST00000372655;ENST00000372654;ENST00000372653;ENST00000372669;ENST00000372652;ENST00000372651;ENST00000440226;ENST00000416859;ENST00000308733	T;T;T;T;T;T;T;T;T;T;T;T	0.43688	1.0;1.0;1.0;1.0;1.0;0.94;1.0;1.0;1.0;1.0;1.5;1.0	5.6	5.6	0.85130	.	0.094419	0.64402	D	0.000001	T	0.56124	0.1964	L	0.36672	1.1	0.54753	D	0.999982	D;D;D;D;D;D;D;D	0.89917	0.99;0.997;1.0;0.983;1.0;0.99;0.99;1.0	P;P;D;B;D;P;P;D	0.79784	0.725;0.855;0.926;0.321;0.951;0.725;0.725;0.993	T	0.56426	-0.7981	10	0.62326	D	0.03	.	17.0961	0.86635	0.0:1.0:0.0:0.0	.	132;76;170;170;170;170;170;170	B4DW63;B4DVS8;Q13952;Q5T6K9;Q13952-3;F8VWM3;Q13952-2;B4DUS6	.;.;NFYC_HUMAN;.;.;.;.;.	M	132;170;170;170;68;68;170;170;170;170;170;170;138;170	ENSP00000408315:T132M;ENSP00000404427:T170M;ENSP00000396620:T170M;ENSP00000408867:T170M;ENSP00000361738:T170M;ENSP00000361737:T170M;ENSP00000361754:T170M;ENSP00000361736:T170M;ENSP00000361734:T170M;ENSP00000414299:T170M;ENSP00000409219:T138M;ENSP00000312617:T170M	ENSP00000312617:T170M	T	+	2	0	NFYC	40996501	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.439000	0.80444	2.653000	0.90120	0.561000	0.74099	ACG	NFYC-004	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000020799.1		+	ENST00000372652.1	Missense_Mutation	SNP	1 : 41223914 - 41223914 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	237	12
AMOTL1	154810	broad.mit.edu	37	11	94602523	94602523	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94602523C>T	ENST00000433060.2	+	12	2790	c.2649C>T	c.(2647-2649)gcC>gcT	p.A883A	AMOTL1_ENST00000317837.9_Silent_p.A470A|AMOTL1_ENST00000317829.8_Silent_p.A833A	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	883						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				ACAAGAGTGCCGAGCTCTTCT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	44	41			NA	NA	11		NA											NA				94602523		2170	4276	6446	SO:0001819	synonymous_variant			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025	154810	154810			17811	protein-coding gene	gene with protein product	junction-enriched and associated protein	614657			NA	11733531	Standard	NM_130847	XM_005273798	NA	Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.2649C>T	11.37:g.94602523C>T		NA	Q63HK7|Q8NDN0|Q8WXD1|Q96CM5	37	CCDS44712.1																																																																																			AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396474.3		+	ENST00000433060.2	Silent	SNP	11 : 94602523 - 94602523 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	100	11
TRERF1	55809	broad.mit.edu	37	6	42231107	42231107	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42231107G>A	ENST00000372922.4	-	8	2397	c.1835C>T	c.(1834-1836)gCc>gTc	p.A612V	TRERF1_ENST00000372917.4_Intron|TRERF1_ENST00000340840.2_Intron|TRERF1_ENST00000354325.2_Intron|TRERF1_ENST00000541110.1_Missense_Mutation_p.A612V	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	612	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTGTCTCTGGCGGAGGGGGC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	65	64			NA	NA	6		NA											NA				42231107		2203	4300	6503	SO:0001583	missense			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496	55809	55809			18273	protein-coding gene	gene with protein product		610322	breast cancer anti-estrogen resistance 2	BCAR2	NA	11349124	Standard	NM_033502	XM_005249223	NA	Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.1835C>T	6.37:g.42231107G>A	ENSP00000362013:p.Ala612Val	NA	Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	37	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.877247	0.51801	.	.	ENSG00000124496	ENST00000541110;ENST00000372922	T;T	0.10382	2.89;2.88	4.98	3.08	0.35506	.	0.491767	0.18777	N	0.131437	T	0.01627	0.0052	N	0.08118	0	0.80722	D	1	B;B	0.15930	0.015;0.015	B;B	0.15870	0.014;0.014	T	0.40232	-0.9574	10	0.24483	T	0.36	-11.838	6.3266	0.21246	0.0999:0.1854:0.7147:0.0	.	612;612	Q05GC8;Q96PN7	.;TREF1_HUMAN	V	612	ENSP00000439689:A612V;ENSP00000362013:A612V	ENSP00000362013:A612V	A	-	2	0	TRERF1	42339085	0.886000	0.30341	0.970000	0.41538	0.991000	0.79684	1.357000	0.34090	1.096000	0.41439	-0.254000	0.11334	GCC	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040551.2		-	ENST00000372922.4	Missense_Mutation	SNP	6 : 42231107 - 42231107 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	635	108
ANXA6	309	broad.mit.edu	37	5	150498908	150498908	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150498908G>A	ENST00000354546.5	-	18	1618	c.1391C>T	c.(1390-1392)aCt>aTt	p.T464I	ANXA6_ENST00000356496.5_Missense_Mutation_p.T464I|ANXA6_ENST00000523714.1_Missense_Mutation_p.T432I|ANXA6_ENST00000521512.1_Missense_Mutation_p.T257I|ANXA6_ENST00000377751.5_Missense_Mutation_p.T121I	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	464						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTGGTCCGAGTGGCCAGGAT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	100	100			NA	NA	5		NA											NA				150498908		1894	4107	6001	SO:0001583	missense			J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043	309	309		Annexins	544	protein-coding gene	gene with protein product		114070		ANX6	NA	3258820	Standard	NM_001155	NM_001155	NA	Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.1391C>T	5.37:g.150498908G>A	ENSP00000346550:p.Thr464Ile	NA	D3DQH4|Q6ZT79	37	CCDS47315.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920715	0.92249	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000377751;ENST00000356496;ENST00000521512;ENST00000540153	T;T;T;T;T	0.05025	3.51;3.51;3.51;3.51;3.51	5.36	5.36	0.76844	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.31702	0.0805	M	0.87269	2.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.13335	-1.0513	10	0.87932	D	0	.	17.8553	0.88761	0.0:0.0:1.0:0.0	.	257;464;464	E5RK69;A6NN80;P08133	.;.;ANXA6_HUMAN	I	464;432;121;464;257;338	ENSP00000346550:T464I;ENSP00000430517:T432I;ENSP00000366980:T121I;ENSP00000348889:T464I;ENSP00000430420:T257I	ENSP00000346550:T464I	T	-	2	0	ANXA6	150479101	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.733000	0.74796	2.502000	0.84385	0.655000	0.94253	ACT	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377668.2		-	ENST00000354546.5	Missense_Mutation	SNP	5 : 150498908 - 150498908 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	424	89
DIAPH1	1729	broad.mit.edu	37	5	140903715	140903715	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140903715C>T	ENST00000389054.3	-	26	3787	c.3647G>A	c.(3646-3648)cGt>cAt	p.R1216H	DIAPH1_ENST00000518047.1_Missense_Mutation_p.R1207H|DIAPH1_ENST00000398557.4_Missense_Mutation_p.R1219H|DIAPH1_ENST00000389057.5_Missense_Mutation_p.R1210H|DIAPH1_ENST00000253811.6_Missense_Mutation_p.R1220H|DIAPH1_ENST00000520569.1_Missense_Mutation_p.R1162H|DIAPH1_ENST00000398566.3_Missense_Mutation_p.R1211H|DIAPH1_ENST00000398562.2_Missense_Mutation_p.R1195H			O60610	DIAP1_HUMAN	diaphanous-related formin 1	1219	Arg/Lys-rich (basic).|DAD.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTACCTTGACGGGGCCCTCT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	95	93			NA	NA	5		NA											NA				140903715		2039	4189	6228	SO:0001583	missense			BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504	1729	1729			2876	protein-coding gene	gene with protein product		602121	diaphanous (Drosophila, homolog) 1, diaphanous homolog 1 (Drosophila)	DFNA1	NA	9360932, 1350680	Standard	NM_005219	NM_005219	NA	Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000389054.3:c.3647G>A	5.37:g.140903715C>T	ENSP00000373706:p.Arg1216His	NA	A6NF18|B7ZKW2|Q59FH8|Q9UC76	37		.	.	.	.	.	.	.	.	.	.	C	25.5	4.639715	0.87760	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	D;D;D;D;D;D;D;D	0.83335	-1.69;-1.68;-1.57;-1.71;-1.7;-1.71;-1.7;-1.69	5.6	5.6	0.85130	Diaphanous autoregulatory (1);	0.060394	0.64402	D	0.000002	D	0.89515	0.6737	L	0.54323	1.7	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.991;0.996;0.996	D	0.89446	0.3727	10	0.56958	D	0.05	.	18.3841	0.90461	0.0:1.0:0.0:0.0	.	1209;1210;1219	A0RZB8;E9PEZ2;O60610	.;.;DIAP1_HUMAN	H	1216;1162;1195;1210;1211;1219;1220;1207	ENSP00000373706:R1216H;ENSP00000429282:R1162H;ENSP00000381570:R1195H;ENSP00000373709:R1210H;ENSP00000381572:R1211H;ENSP00000381565:R1219H;ENSP00000253811:R1220H;ENSP00000428268:R1207H	ENSP00000253811:R1220H	R	-	2	0	DIAPH1	140883899	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.183000	0.77697	2.647000	0.89833	0.650000	0.86243	CGT	DIAPH1-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000313771.3		-	ENST00000389054.3	Missense_Mutation	SNP	5 : 140903715 - 140903715 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	461	86
CCDC64	92558	broad.mit.edu	37	12	120502561	120502561	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120502561C>T	ENST00000397558.2	+	4	787	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	CCDC64_ENST00000446727.2_Missense_Mutation_p.R7W	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	263					Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGATCGGAAACGGGAGCTGGA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	109	108			NA	NA	12		NA											NA				120502561		1967	4143	6110	SO:0001583	missense			U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127	92558	92558			28095	protein-coding gene	gene with protein product					NA		Standard	NM_207311	NM_207311	NA	Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.787C>T	12.37:g.120502561C>T	ENSP00000380690:p.Arg263Trp	NA	A8MUC8|O95000	37	CCDS41845.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584929	0.86748	.	.	ENSG00000135127	ENST00000357093;ENST00000397558;ENST00000446727	T;T	0.78924	-1.22;1.4	5.52	5.52	0.82312	.	0.295893	0.32258	N	0.006347	T	0.80747	0.4682	L	0.43152	1.355	0.80722	D	1	D;D	0.76494	0.993;0.999	P;P	0.52514	0.653;0.701	T	0.82396	-0.0478	10	0.66056	D	0.02	-16.1118	19.4454	0.94844	0.0:1.0:0.0:0.0	.	7;263	B4DNE7;Q6ZP65	.;BICR1_HUMAN	W	244;263;7	ENSP00000380690:R263W;ENSP00000399658:R7W	ENSP00000349605:R244W	R	+	1	2	CCDC64	118986944	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.209000	0.42806	2.586000	0.87340	0.655000	0.94253	CGG	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403390.2		+	ENST00000397558.2	Missense_Mutation	SNP	12 : 120502561 - 120502561 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	700	127
MTM1	4534	broad.mit.edu	37	X	149809786	149809786	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149809786C>A	ENST00000370396.2	+	8	627	c.573C>A	c.(571-573)tgC>tgA	p.C191*	MTM1_ENST00000413012.2_Nonsense_Mutation_p.C154*|MTM1_ENST00000543350.1_Nonsense_Mutation_p.C76*|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000542741.1_Nonsense_Mutation_p.C96*	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	191	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TTAATAAGTGCTATGAGCTCT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	155	160			NA	NA	X		NA											NA				149809786		2203	4300	6503	SO:0001587	stop_gained			U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100	4534	4534		Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins	7448	protein-coding gene	gene with protein product		300415	myotubular myopathy 1		NA		Standard	NM_000252	NM_000252	NA	Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.573C>A	X.37:g.149809786C>A	ENSP00000359423:p.Cys191*	NA	A6NDB1|Q8NEL1	37	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	C	36	5.788925	0.96945	.	.	ENSG00000171100	ENST00000370396;ENST00000542741;ENST00000543350;ENST00000413012	.	.	.	5.44	3.67	0.42095	.	0.258803	0.42821	D	0.000652	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	3.5168	0.07727	0.1805:0.5115:0.0:0.3081	.	.	.	.	X	191;96;76;154	.	ENSP00000359423:C191X	C	+	3	2	MTM1	149560444	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.628000	0.24522	0.585000	0.29608	0.529000	0.55759	TGC	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060847.3		+	ENST00000370396.2	Nonsense_Mutation	SNP	X : 149809786 - 149809786 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	370	105
PAX5	5079	broad.mit.edu	37	9	37015015	37015015	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37015015G>T	ENST00000358127.4	-	3	463	c.389C>A	c.(388-390)cCt>cAt	p.P130H	PAX5_ENST00000377852.2_Missense_Mutation_p.P130H|PAX5_ENST00000522003.1_Missense_Mutation_p.P22H|PAX5_ENST00000377847.2_Missense_Mutation_p.P130H|PAX5_ENST00000520281.1_Missense_Mutation_p.P130H|PAX5_ENST00000523145.1_Missense_Mutation_p.P22H|PAX5_ENST00000414447.1_Missense_Mutation_p.P130H|PAX5_ENST00000523241.1_Missense_Mutation_p.P130H|PAX5_ENST00000377853.2_Missense_Mutation_p.P130H|PAX5_ENST00000520154.1_Missense_Mutation_p.P130H|PAX5_ENST00000446742.1_Intron	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	130	Paired.				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(42)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		ACTGACGCTAGGCACGGTGTC	0.567		NA	T, Mis, D, F, S	IGH@, ETV6, PML, FOXP1, ZNF521, ELN	NHL, ALL, B-ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		9	9p13	5079	paired box gene 5 (B-cell lineage specific activator protein)		L	42	Unknown(42)	haematopoietic_and_lymphoid_tissue(42)											180	166	171			NA	NA	9		NA											NA				37015015		2203	4300	6503	SO:0001583	missense				CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092	5079	5079		Paired boxes, Homeoboxes / PRD class	8619	protein-coding gene	gene with protein product	B-cell lineage specific activator	167414	paired box gene 5 (B-cell lineage specific activator protein), paired box gene 5 (B-cell lineage specific activator)		NA	1516825, 8431641	Standard		NM_016734	NA	Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.389C>A	9.37:g.37015015G>T	ENSP00000350844:p.Pro130His	NA	A3QVP6|A3QVP7|A3QVP8|O75933	37	CCDS6607.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.922520	0.92319	.	.	ENSG00000196092	ENST00000358127;ENST00000377849;ENST00000377853;ENST00000377852;ENST00000523241;ENST00000520154;ENST00000520281;ENST00000522003;ENST00000523145;ENST00000414447;ENST00000377847	D;D;D;D;D;D;D;D;D;D	0.99716	-6.51;-6.51;-6.51;-6.51;-6.51;-6.51;-6.51;-6.51;-6.51;-6.51	5.5	5.5	0.81552	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.056939	0.64402	D	0.000001	D	0.99857	0.9933	H	0.97291	3.975	0.80722	D	1	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	D;D;D;D;D;D;D;D	0.91635	0.998;0.985;0.998;0.999;0.997;0.998;0.998;0.998	D	0.96755	0.9557	10	0.87932	D	0	.	19.8015	0.96509	0.0:0.0:1.0:0.0	.	130;130;130;130;130;130;130;130	C0KTF8;C0KTF7;C0KTF6;E7ERW5;E7EQT0;Q6S730;Q6S731;Q02548	.;.;.;.;.;.;.;PAX5_HUMAN	H	130;22;130;130;130;130;130;22;22;130;130	ENSP00000350844:P130H;ENSP00000367084:P130H;ENSP00000367083:P130H;ENSP00000429637:P130H;ENSP00000429291:P130H;ENSP00000430773:P130H;ENSP00000429359:P22H;ENSP00000429197:P22H;ENSP00000412188:P130H;ENSP00000367078:P130H	ENSP00000350844:P130H	P	-	2	0	PAX5	37005015	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.749000	0.94314	0.650000	0.86243	CCT	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052433.1		-	ENST00000358127.4	Missense_Mutation	SNP	9 : 37015015 - 37015015 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1081	26
CDK5RAP2	55755	broad.mit.edu	37	9	123253655	123253655	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123253655T>G	ENST00000349780.4	-	13	1591	c.1412A>C	c.(1411-1413)aAa>aCa	p.K471T	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.K471T|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.K471T|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.K471T	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	471					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						ATTGTGCAATTTTTTATTGCT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													203	180	187			NA	NA	9		NA											NA				123253655		2203	4300	6503	SO:0001583	missense			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861	55755	55755			18672	protein-coding gene	gene with protein product	centrosomin	608201	microcephaly, primary autosomal recessive 3	MCPH3	NA	10721722, 17764569, 24466316	Standard	NM_018249	NM_018249	NA	Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.1412A>C	9.37:g.123253655T>G	ENSP00000343818:p.Lys471Thr	NA	Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	37	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	T	10.15	1.270117	0.23221	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000345313	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.76	4.59	0.56863	.	0.397699	0.24240	N	0.040267	T	0.53706	0.1813	M	0.64997	1.995	0.09310	N	0.999992	D;D;P;D	0.56746	0.977;0.977;0.837;0.961	P;P;B;P	0.53593	0.73;0.656;0.373;0.541	T	0.45963	-0.9225	10	0.22109	T	0.4	.	10.8935	0.47008	0.1401:0.0:0.0:0.8599	.	272;471;471;471	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8	.;.;.;CK5P2_HUMAN	T	471;471;471;471;473	ENSP00000354065:K471T;ENSP00000352258:K471T;ENSP00000343818:K471T;ENSP00000353317:K471T	ENSP00000341695:K473T	K	-	2	0	CDK5RAP2	122293476	0.842000	0.29525	0.005000	0.12908	0.050000	0.14768	3.341000	0.52151	0.965000	0.38133	0.528000	0.53228	AAA	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055535.1		-	ENST00000349780.4	Missense_Mutation	SNP	9 : 123253655 - 123253655 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	56
RBM44	375316	broad.mit.edu	37	2	238726960	238726960	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238726960G>A	ENST00000444524.2	+	3	201				RBM44_ENST00000316997.4_Silent_p.Q467Q|RBM44_ENST00000409864.1_Silent_p.Q467Q			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	NA							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		CAATTAATCAGACAGTGGACG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	94	96			NA	NA	2		NA											NA				238726960		1946	4133	6079	SO:0001627	intron_variant			AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483	375316	375316		RNA binding motif (RRM) containing	24756	protein-coding gene	gene with protein product					NA		Standard	NM_001080504	NM_001080504	NA	Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000444524.2:c.202-1858G>A	2.37:g.238726960G>A		NA	A0AUW3	37																																																																																				RBM44-003	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000400909.1		+	ENST00000444524.2	Intron	SNP	2 : 238726960 - 238726960 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	254	84
ATP4A	495	broad.mit.edu	37	19	36046143	36046143	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36046143C>T	ENST00000262623.3	-	15	2279	c.2251G>A	c.(2251-2253)Gat>Aat	p.D751N		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	751					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TTGGCAGCATCTGAGCCAGCG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	80	86			NA	NA	19		NA											NA				36046143		2203	4300	6503	SO:0001583	missense				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	495	495	3.6.3.10	ATPases / P-type	819	protein-coding gene	gene with protein product	gastric H,K-ATPase alpha subunit, H(+)-K(+)-ATPase alpha subunit, proton pump	137216			NA	1330887	Standard	NM_000704	NM_000704	NA	Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2251G>A	19.37:g.36046143C>T	ENSP00000262623:p.Asp751Asn	NA	O00738	37	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418517	0.83559	.	.	ENSG00000105675	ENST00000262623	D	0.98550	-4.99	4.66	4.66	0.58398	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.64402	D	0.000001	D	0.99357	0.9774	H	0.98133	4.155	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98344	1.0540	10	0.87932	D	0	.	15.0789	0.72099	0.0:1.0:0.0:0.0	.	751	P20648	ATP4A_HUMAN	N	751	ENSP00000262623:D751N	ENSP00000262623:D751N	D	-	1	0	ATP4A	40737983	1.000000	0.71417	0.888000	0.34837	0.752000	0.42762	7.651000	0.83577	2.425000	0.82216	0.462000	0.41574	GAT	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109470.2		-	ENST00000262623.3	Missense_Mutation	SNP	19 : 36046143 - 36046143 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	370	85
NLRP3	114548	broad.mit.edu	37	1	247611772	247611772	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247611772C>A	ENST00000336119.3	+	9	3823	c.3077C>A	c.(3076-3078)cCt>cAt	p.P1026H	NLRP3_ENST00000366497.2_Missense_Mutation_p.P969H|NLRP3_ENST00000366496.2_Missense_Mutation_p.P969H|NLRP3_ENST00000391828.3_Missense_Mutation_p.P1026H|NLRP3_ENST00000348069.2_Missense_Mutation_p.P912H|NLRP3_ENST00000391827.2_Missense_Mutation_p.P969H	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	1026					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GAAGAAAAGCCTGAGCTGACC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	101	101			NA	NA	1		NA											NA				247611772		2203	4300	6503	SO:0001583	missense			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711	114548	114548		Nucleotide-binding domain and leucine rich repeat containing	16400	protein-coding gene	gene with protein product	Cryopyrin, nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3	606416	cold autoinflammatory syndrome 1	C1orf7, CIAS1	NA	10741953	Standard	NM_004895	NM_183395	NA	Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.3077C>A	1.37:g.247611772C>A	ENSP00000337383:p.Pro1026His	NA	B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270158	0.40194	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.76448	-0.89;-0.93;-0.89;-1.02;-0.93;-0.96	4.49	4.49	0.54785	.	0.000000	0.42420	D	0.000708	D	0.86590	0.5969	M	0.78916	2.43	0.33699	D	0.614343	D;B;D;B;D	0.76494	0.999;0.298;0.999;0.268;0.998	D;B;D;B;P	0.69824	0.966;0.384;0.938;0.111;0.879	D	0.90259	0.4299	10	0.72032	D	0.01	.	13.007	0.58710	0.0:1.0:0.0:0.0	.	1006;969;912;969;1026	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	H	1026;969;1026;912;969;969	ENSP00000375704:P1026H;ENSP00000355453:P969H;ENSP00000337383:P1026H;ENSP00000294752:P912H;ENSP00000355452:P969H;ENSP00000375703:P969H	ENSP00000337383:P1026H	P	+	2	0	NLRP3	245678395	0.944000	0.32072	0.967000	0.41034	0.372000	0.29890	2.457000	0.45005	2.779000	0.95612	0.637000	0.83480	CCT	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097740.1		+	ENST00000336119.3	Missense_Mutation	SNP	1 : 247611772 - 247611772 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	398	15
PCDH15	65217	broad.mit.edu	37	10	55719536	55719536	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55719536G>T	ENST00000373965.2	-	24	3493	c.3099C>A	c.(3097-3099)gtC>gtA	p.V1033V	PCDH15_ENST00000409834.1_Silent_p.V637V|PCDH15_ENST00000361849.3_Silent_p.V1026V|PCDH15_ENST00000320301.6_Silent_p.V1026V|PCDH15_ENST00000395430.1_Silent_p.V1026V|PCDH15_ENST00000395433.1_Silent_p.V1004V|PCDH15_ENST00000395432.2_Silent_p.V989V|PCDH15_ENST00000395438.1_Silent_p.V1026V|PCDH15_ENST00000395445.1_Silent_p.V1033V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Silent_p.V955V|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Silent_p.V1031V	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1026	Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.V1031V(1)|p.V1026V(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAGGATGTAAGACAAGAATCT	0.398		NA								HNSCC(58;0.16)				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)											88	79	82			NA	NA	10		NA											NA				55719536		2203	4300	6503	SO:0001819	synonymous_variant			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275	65217	65217		Cadherins / Cadherin-related	14674	protein-coding gene	gene with protein product	cadherin-related family member 15	605514	deafness, autosomal recessive 23, protocadherin 15	USH1F, DFNB23	NA	11398101, 14570705	Standard	NM_033056	NM_033056	NA	Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.3099C>A	10.37:g.55719536G>T		NA	A6NL19|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	37																																																																																				PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000291336.1		-	ENST00000373965.2	Silent	SNP	10 : 55719536 - 55719536 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	56
CCDC27	148870	broad.mit.edu	37	1	3683818	3683818	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3683818A>G	ENST00000294600.2	+	10	1636	c.1552A>G	c.(1552-1554)Aag>Gag	p.K518E		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	518										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		ACTGGAGAGAAAGCTCACCAA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	48	48			NA	NA	1		NA											NA				3683818		2203	4300	6503	SO:0001583	missense				CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592	148870	148870			26546	protein-coding gene	gene with protein product					NA		Standard	NM_152492	NM_152492	NA	Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1552A>G	1.37:g.3683818A>G	ENSP00000294600:p.Lys518Glu	NA	Q5TBV3|Q96M50	37	CCDS50.1	.	.	.	.	.	.	.	.	.	.	A	0.225	-1.025232	0.02061	.	.	ENSG00000162592	ENST00000294600	T	0.17528	2.27	5.24	1.08	0.20341	.	0.775011	0.11797	N	0.528528	T	0.06371	0.0164	N	0.03608	-0.345	0.09310	N	1	B	0.20261	0.043	B	0.17722	0.019	T	0.44605	-0.9317	10	0.13853	T	0.58	-3.2002	7.2761	0.26286	0.4014:0.0:0.5986:0.0	.	518	Q2M243	CCD27_HUMAN	E	518	ENSP00000294600:K518E	ENSP00000294600:K518E	K	+	1	0	CCDC27	3673678	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.177000	0.16801	-0.071000	0.12886	-0.899000	0.02877	AAG	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000009740.1		+	ENST00000294600.2	Missense_Mutation	SNP	1 : 3683818 - 3683818 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	196	23
RDH10	157506	broad.mit.edu	37	8	74209428	74209428	+	Translation_Start_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:74209428G>A	ENST00000519380.1	+	0	178				RDH10_ENST00000240285.5_Splice_Site			Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	NA					retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			TCTGAGGACAGCTGGGAATGG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	64	67			NA	NA	8		NA											NA				74209428		2203	4300	6503					AF456765	CCDS6213.1	8q21.11	2011-09-20			ENSG00000121039	ENSG00000121039	157506	157506	1.1.1.-	Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3	19975	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 16C, member 4	607599			NA	12407145, 19027726	Standard		NM_172037	NA	Approved	SDR16C4	uc003xzi.3	Q8IZV5	OTTHUMG00000164492	ENST00000519380.1:c.-207G>A	8.37:g.74209428G>A		NA		37		.	.	.	.	.	.	.	.	.	.	G	18.50	3.638496	0.67130	.	.	ENSG00000121039	ENST00000240285	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9535	0.92649	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RDH10	74371982	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.337000	0.72958	2.780000	0.95670	0.655000	0.94253	.	RDH10-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000378985.1		+	ENST00000519380.1	De_novo_Start_OutOfFrame	SNP	8 : 74209428 - 74209428 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	173	36
KIF4B	285643	broad.mit.edu	37	5	154395412	154395412	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154395412A>G	ENST00000435029.4	+	1	2153	c.1993A>G	c.(1993-1995)Aag>Gag	p.K665E		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	665	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TAGACAATGGAAGCAGAAAAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	146	145			NA	NA	5		NA											NA				154395412		2203	4300	6503	SO:0001583	missense			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650	285643	285643		Kinesins	6322	protein-coding gene	gene with protein product		609184			NA		Standard		NM_001099293	NA	Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.1993A>G	5.37:g.154395412A>G	ENSP00000387875:p.Lys665Glu	NA		37	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	a	16.29	3.082917	0.55861	.	.	ENSG00000226650	ENST00000435029	T	0.10860	2.83	2.54	2.54	0.30619	.	.	.	.	.	T	0.24812	0.0602	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.09574	-1.0668	9	0.16420	T	0.52	.	8.5427	0.33402	1.0:0.0:0.0:0.0	.	665	Q2VIQ3	KIF4B_HUMAN	E	665	ENSP00000387875:K665E	ENSP00000387875:K665E	K	+	1	0	KIF4B	154375605	1.000000	0.71417	0.979000	0.43373	0.824000	0.46624	5.781000	0.68964	0.939000	0.37446	0.460000	0.39030	AAG	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377478.1		+	ENST00000435029.4	Missense_Mutation	SNP	5 : 154395412 - 154395412 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	681	118
ADD2	119	broad.mit.edu	37	2	70933384	70933384	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70933384G>A	ENST00000264436.4	-	3	601	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C	ADD2_ENST00000413157.2_Missense_Mutation_p.R53C|ADD2_ENST00000407644.2_Missense_Mutation_p.R53C|ADD2_ENST00000430656.1_Missense_Mutation_p.R69C|ADD2_ENST00000355733.3_Missense_Mutation_p.R53C	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	NA					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						ATGGTGACGCGCTTCTTCTGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	52	53			NA	NA	2		NA											NA				70933384		2203	4300	6503	SO:0001583	missense			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340	119	119			244	protein-coding gene	gene with protein product		102681			NA	1840603	Standard	NM_001617	NM_001617	NA	Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.157C>T	2.37:g.70933384G>A	ENSP00000264436:p.Arg53Cys	NA	A8K4P2|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	37	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389532	0.82902	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000522886;ENST00000264439;ENST00000356565;ENST00000517596;ENST00000413157;ENST00000430656;ENST00000415348;ENST00000425976	T;T;T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42	4.89	2.93	0.34026	.	0.148312	0.41605	D	0.000847	T	0.58004	0.2092	M	0.88105	2.93	0.58432	D	0.999994	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.991;0.999;0.974;0.999;0.999;0.975	T	0.65393	-0.6179	10	0.87932	D	0	-16.7794	10.5275	0.44957	0.0:0.0:0.5433:0.4567	.	69;53;53;53;53;53	B4DM17;P35612-4;E9PAN1;Q05DK5;P35612;P35612-3	.;.;.;.;ADDB_HUMAN;.	C	53;53;53;53;53;53;53;53;53;69;53;53	ENSP00000264436:R53C;ENSP00000384677:R53C;ENSP00000347972:R53C;ENSP00000430243:R53C;ENSP00000388072:R53C;ENSP00000398112:R69C;ENSP00000412357:R53C;ENSP00000412681:R53C	ENSP00000264436:R53C	R	-	1	0	ADD2	70786892	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.883000	0.39658	1.385000	0.46445	0.591000	0.81541	CGC	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251918.4		-	ENST00000264436.4	Missense_Mutation	SNP	2 : 70933384 - 70933384 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	423	20
KIF13B	23303	broad.mit.edu	37	8	28976427	28976427	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28976427C>A	ENST00000524189.1	-	30	3656	c.3618G>T	c.(3616-3618)gaG>gaT	p.E1206D	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1206					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CAAAGAACTCCTCTTCTTCTT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	172	172			NA	NA	8		NA											NA				28976427		1941	4155	6096	SO:0001583	missense			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892	23303	23303		Kinesins	14405	protein-coding gene	gene with protein product		607350			NA	9734811, 10859302, 16864656	Standard		NM_015254	NA	Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.3618G>T	8.37:g.28976427C>A	ENSP00000427900:p.Glu1206Asp	NA	O75134|Q9BYJ6	37	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	2.070	-0.413266	0.04799	.	.	ENSG00000197892	ENST00000524189	T	0.75704	-0.96	4.89	-6.99	0.01605	.	0.258306	0.44097	N	0.000483	T	0.35128	0.0921	N	0.04203	-0.255	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28713	-1.0035	10	0.09843	T	0.71	.	2.2038	0.03931	0.3404:0.2516:0.3025:0.1054	.	1206	F8VPJ2	.	D	1206	ENSP00000427900:E1206D	ENSP00000427900:E1206D	E	-	3	2	KIF13B	29032346	0.001000	0.12720	0.900000	0.35374	0.902000	0.53008	-1.583000	0.02115	-1.236000	0.02542	-0.471000	0.05019	GAG	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376878.1		-	ENST00000524189.1	Missense_Mutation	SNP	8 : 28976427 - 28976427 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	524	76
KDM6B	23135	broad.mit.edu	37	17	7750937	7750937	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7750937G>T	ENST00000254846.5	+	11	1720	c.1331G>T	c.(1330-1332)aGc>aTc	p.S444I	KDM6B_ENST00000448097.2_Missense_Mutation_p.S444I	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	444	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TCGGCACACAGCAGTCGGAAA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	25	24			NA	NA	17		NA											NA				7750937		2203	4300	6503	SO:0001583	missense			AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510	23135	23135		Chromatin-modifying enzymes / K-demethylases	29012	protein-coding gene	gene with protein product		611577	jumonji domain containing 3, jumonji domain containing 3, histone lysine demethylase	JMJD3	NA	10662545, 9205841	Standard	XM_043272	NM_001080424	NA	Approved	KIAA0346	uc002giw.1	O15054		ENST00000254846.5:c.1331G>T	17.37:g.7750937G>T	ENSP00000254846:p.Ser444Ile	NA	C9IZ40|Q96G33	37	CCDS32552.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.549796	0.27652	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.09163	3.01;3.01	4.19	3.23	0.37069	.	0.355288	0.27185	N	0.020531	T	0.07548	0.0190	N	0.14661	0.345	0.26903	N	0.967064	B	0.28880	0.226	B	0.34138	0.176	T	0.25117	-1.0141	10	0.52906	T	0.07	-4.2785	9.4896	0.38951	0.1015:0.0:0.8985:0.0	.	444	O15054-1	.	I	444	ENSP00000254846:S444I;ENSP00000412513:S444I	ENSP00000254846:S444I	S	+	2	0	KDM6B	7691662	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.180000	0.42537	1.129000	0.42072	0.561000	0.74099	AGC	KDM6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000440247.1		+	ENST00000254846.5	Missense_Mutation	SNP	17 : 7750937 - 7750937 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	206	41
MATK	4145	broad.mit.edu	37	19	3783843	3783843	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3783843A>G	ENST00000310132.6	-	6	949	c.551T>C	c.(550-552)gTg>gCg	p.V184A	MATK_ENST00000585778.1_Missense_Mutation_p.V184A|MATK_ENST00000395045.2_Missense_Mutation_p.V185A|MATK_ENST00000395040.2_Missense_Mutation_p.V143A	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	184	SH2.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGAAGAACACGGCCTCATC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	49	52			NA	NA	19		NA											NA				3783843		2203	4299	6502	SO:0001583	missense			L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14					4145	4145		SH2 domain containing	6906	protein-coding gene	gene with protein product	Csk-homologous kinase, tyrosine-protein kinase CTK, protein kinase HYL, hematopoietic consensus tyrosine-lacking kinase, tyrosylprotein kinase, hydroxyaryl-protein kinase, Csk-type protein tyrosine kinase, HYL tyrosine kinase, tyrosine kinase MATK, leukocyte carboxyl-terminal src kinase related	600038			NA	8288563, 7530249	Standard	NM_139355	NM_139355	NA	Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.551T>C	19.37:g.3783843A>G	ENSP00000308734:p.Val184Ala	NA		37	CCDS12114.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324334	0.41197	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	D;D;D	0.87966	-2.32;-2.32;-2.32	4.81	3.8	0.43715	SH2 motif (4);	0.663300	0.14471	N	0.317543	T	0.78387	0.4275	L	0.28014	0.82	0.27380	N	0.955432	P;P;P	0.44521	0.695;0.837;0.695	B;P;B	0.47430	0.328;0.547;0.328	T	0.67337	-0.5696	10	0.06757	T	0.87	-34.2197	4.188	0.10407	0.6184:0.0:0.0937:0.2879	.	184;185;184	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	A	185;184;143	ENSP00000378485:V185A;ENSP00000308734:V184A;ENSP00000378481:V143A	ENSP00000308734:V184A	V	-	2	0	MATK	3734843	0.000000	0.05858	0.995000	0.50966	0.939000	0.58152	0.779000	0.26746	0.708000	0.31955	0.459000	0.35465	GTG	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453639.1		-	ENST00000310132.6	Missense_Mutation	SNP	19 : 3783843 - 3783843 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	255	22
OR51A7	119687	broad.mit.edu	37	11	4929297	4929297	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4929297G>T	ENST00000359350.4	+	1	698	c.698G>T	c.(697-699)aGg>aTg	p.R233M	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGCAGAGAGGCTTAAGGCC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													238	205	216			NA	NA	11		NA											NA				4929297		2201	4298	6499	SO:0001583	missense			AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895	119687	119687		GPCR / Class A : Olfactory receptors	15188	protein-coding gene	gene with protein product					NA		Standard	NM_001004749	NM_001004749	NA	Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.698G>T	11.37:g.4929297G>T	ENSP00000352305:p.Arg233Met	NA	Q6IFH8	37	CCDS31364.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.734199	0.30684	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	T	0.46451	0.87	5.02	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000084	T	0.66607	0.2806	M	0.93283	3.4	0.09310	N	1	D	0.60575	0.988	P	0.60286	0.872	T	0.63541	-0.6614	10	0.87932	D	0	.	10.1619	0.42858	0.1499:0.0:0.8501:0.0	.	233	Q8NH64	O51A7_HUMAN	M	233;233;222	ENSP00000352305:R233M	ENSP00000352305:R233M	R	+	2	0	OR51A7	4885873	0.007000	0.16637	0.666000	0.29783	0.234000	0.25298	1.580000	0.36547	2.596000	0.87737	0.655000	0.94253	AGG	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000142175.1		+	ENST00000359350.4	Missense_Mutation	SNP	11 : 4929297 - 4929297 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	787	130
AMHR2	269	broad.mit.edu	37	12	53823984	53823984	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53823984C>T	ENST00000379791.3	+	8	1140				AMHR2_ENST00000257863.4_Missense_Mutation_p.P448L|AMHR2_ENST00000550311.1_Silent_p.L447L	NM_001164691.1	NP_001158163.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	NA					Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GGCAATACCCCTACCTCTGAT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													251	214	226			NA	NA	12		NA											NA				53823984		2203	4300	6503	SO:0001627	intron_variant			AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14					269	269			465	protein-coding gene	gene with protein product	Muellerian inhibiting substance type II receptor	600956			NA	7493017	Standard	NM_020547	NM_001164690	NA	Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000379791.3:c.1140+575C>T	12.37:g.53823984C>T		NA	A0AVE1|B9EGB7|Q13762	37	CCDS53798.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034635	0.75617	.	.	ENSG00000135409	ENST00000257863	T	0.65178	-0.14	5.09	5.09	0.68999	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.39020	N	0.001489	T	0.79423	0.4443	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81415	-0.0943	9	0.87932	D	0	.	15.8836	0.79222	0.0:1.0:0.0:0.0	.	448	Q16671	AMHR2_HUMAN	L	448	ENSP00000257863:P448L	ENSP00000257863:P448L	P	+	2	0	AMHR2	52110251	0.997000	0.39634	0.542000	0.28115	0.552000	0.35366	5.059000	0.64306	2.822000	0.97130	0.557000	0.71058	CCT	AMHR2-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407050.1		+	ENST00000379791.3	Intron	SNP	12 : 53823984 - 53823984 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1101	286
JPH2	57158	broad.mit.edu	37	20	42744440	42744440	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42744440C>T	ENST00000372980.3	-	4	2747	c.1875G>A	c.(1873-1875)aaG>aaA	p.K625K		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	625	Pro-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGATGATGGGCTTGGGCTCCA	0.741		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	22	21			NA	NA	20		NA											NA				42744440		2202	4298	6500	SO:0001819	synonymous_variant			AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596	57158	57158			14202	protein-coding gene	gene with protein product		605267			NA	10891348, 10949023	Standard		XM_006723832	NA	Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.1875G>A	20.37:g.42744440C>T		NA	E1P5X1|O95913|Q5JY74|Q9UJN4	37	CCDS13325.1																																																																																			JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080307.1		-	ENST00000372980.3	Silent	SNP	20 : 42744440 - 42744440 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	252	42
MOCS1	4337	broad.mit.edu	37	6	39877623	39877623	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39877623C>A	ENST00000373186.4	-	8	1195	c.1058G>T	c.(1057-1059)aGa>aTa	p.R353I	MOCS1_ENST00000373188.2_Missense_Mutation_p.R353I|MOCS1_ENST00000432280.2_Missense_Mutation_p.R324I|MOCS1_ENST00000373175.4_Missense_Mutation_p.R324I|MOCS1_ENST00000340692.5_Missense_Mutation_p.R353I|MOCS1_ENST00000425303.2_Missense_Mutation_p.R353I|MOCS1_ENST00000373195.3_Missense_Mutation_p.R266I|MOCS1_ENST00000308559.7_Missense_Mutation_p.R353I	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	353	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCCAATGATTCTCAGCAGCTC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)							NA				0													114	102	106			NA	NA	6		NA											NA				39877623		2203	4300	6503	SO:0001583	missense			AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615	4337	4337			7190	protein-coding gene	gene with protein product		603707			NA	9731530, 10053004	Standard	NM_005943	NM_001075098	NA	Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000373186.4:c.1058G>T	6.37:g.39877623C>A	ENSP00000362282:p.Arg353Ile	NA	B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	37	CCDS4846.1	.	.	.	.	.	.	.	.	.	.	C	9.397	1.076926	0.20227	.	.	ENSG00000124615	ENST00000373186;ENST00000308559;ENST00000373175;ENST00000373188;ENST00000373195;ENST00000340692;ENST00000425303;ENST00000432280	D;D;D;D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46	4.98	0.952	0.19584	Molybdenum cofactor synthesis C-terminal (1);	0.618843	0.16706	N	0.202889	T	0.77558	0.4148	M	0.79011	2.435	0.25476	N	0.987787	B;B;P;B;B	0.34909	0.419;0.087;0.475;0.419;0.178	B;B;B;B;B	0.36335	0.142;0.098;0.222;0.142;0.142	T	0.68891	-0.5289	9	.	.	.	1.1866	4.5072	0.11894	0.0:0.3477:0.2942:0.3581	.	353;353;353;353;353	Q9NZB8-2;Q9NZB8-5;Q9NZB8;Q9NZB8-8;Q9NZB8-6	.;.;MOCS1_HUMAN;.;.	I	353;353;324;353;266;353;353;324	ENSP00000362282:R353I;ENSP00000309843:R353I;ENSP00000362270:R324I;ENSP00000362284:R353I;ENSP00000362291:R266I;ENSP00000344794:R353I;ENSP00000416478:R353I;ENSP00000410809:R324I	.	R	-	2	0	MOCS1	39985601	0.051000	0.20477	0.016000	0.15963	0.442000	0.32017	0.454000	0.21827	-0.129000	0.11620	0.557000	0.71058	AGA	MOCS1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040472.2		-	ENST00000373186.4	Missense_Mutation	SNP	6 : 39877623 - 39877623 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	691	139
NCKIPSD	51517	broad.mit.edu	37	3	48717612	48717612	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48717612C>T	ENST00000294129.2	-	6	1262	c.1143G>A	c.(1141-1143)agG>agA	p.R381R	NCKIPSD_ENST00000416649.2_Silent_p.R374R|NCKIPSD_ENST00000341520.4_Silent_p.R381R	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	381					cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCACCTCCAGCCTCTGCTGGT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	41	43			NA	NA	3		NA											NA				48717612		2203	4300	6503	SO:0001819	synonymous_variant			AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672	51517	51517			15486	protein-coding gene	gene with protein product	dia interacting protein, diaphanous protein interacting protein, SH3 protein interacting with Nck, 90 kDa	606671			NA	10648423, 10619843	Standard	NM_016453	NM_016453	NA	Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.1143G>A	3.37:g.48717612C>T		NA	B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	37	CCDS2776.1	.	.	.	.	.	.	.	.	.	.	C	8.256	0.810200	0.16537	.	.	ENSG00000213672	ENST00000415281	.	.	.	4.88	-1.47	0.08772	.	.	.	.	.	T	0.51601	0.1684	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44143	-0.9347	4	.	.	.	.	7.2578	0.26187	0.0:0.3798:0.117:0.5032	.	.	.	.	T	117	.	.	A	-	1	0	NCKIPSD	48692616	0.171000	0.23029	0.997000	0.53966	0.907000	0.53573	-0.391000	0.07323	-0.118000	0.11851	-0.244000	0.11960	GCT	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257520.1		-	ENST00000294129.2	Silent	SNP	3 : 48717612 - 48717612 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	260	61
ELP4	26610	broad.mit.edu	37	11	31805078	31805078	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:31805078C>A	ENST00000379163.5	+	11	1438	c.1423C>A	c.(1423-1425)Cct>Act	p.P475T	ELP4_ENST00000395934.2_3'UTR|ELP4_ENST00000350638.5_3'UTR			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	0					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					TCTAGGGATTCCTCCTTAGTC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	54	52			NA	NA	11		NA											NA				31805078		1926	4136	6062	SO:0001583	missense			AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911	26610	26610		Elongator acetyltransferase complex subunits	1171	protein-coding gene	gene with protein product		606985	chromosome 11 open reading frame 19, elongation protein 4 homolog (S. cerevisiae)	C11orf19	NA	11889558, 11435442	Standard	NM_019040	XM_005252865	NA	Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000379163.5:c.1423C>A	11.37:g.31805078C>A	ENSP00000368461:p.Pro475Thr	NA	Q9H4E8|Q9NX11	37		.	.	.	.	.	.	.	.	.	.	C	11.87	1.768663	0.31320	.	.	ENSG00000109911	ENST00000379163	T	0.47869	0.83	5.51	1.13	0.20643	.	.	.	.	.	T	0.31295	0.0792	.	.	.	0.80722	D	1	B	0.28713	0.22	B	0.19148	0.024	T	0.24870	-1.0148	8	0.87932	D	0	.	3.7912	0.08721	0.0:0.264:0.3841:0.3519	.	475	B4E3W0	.	T	475	ENSP00000368461:P475T	ENSP00000368461:P475T	P	+	1	0	ELP4	31761654	0.995000	0.38212	0.462000	0.27118	0.794000	0.44872	1.032000	0.30178	0.716000	0.32124	0.557000	0.71058	CCT	ELP4-004	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000388506.1		+	ENST00000379163.5	Missense_Mutation	SNP	11 : 31805078 - 31805078 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	408	78
C1orf53	388722	broad.mit.edu	37	1	197875015	197875015	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197875015T>C	ENST00000367393.3	+	2	357	c.354T>C	c.(352-354)tcT>tcC	p.S118S	C1orf53_ENST00000542800.1_3'UTR	NM_001024594.2	NP_001019765.1	Q5VUE5	CA053_HUMAN	chromosome 1 open reading frame 53	118										endometrium(1)|lung(1)	2						GTTGTGGCTCTGCGTGCAGAC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	164	167			NA	NA	1		NA											NA				197875015		2034	4207	6241	SO:0001819	synonymous_variant			BC038214	CCDS44290.1	1q31.3	2011-01-26			ENSG00000203724	ENSG00000203724	388722	388722			30003	protein-coding gene	gene with protein product					NA	15897902	Standard	NM_001024594	NM_001024594	NA	Approved		uc001guh.3	Q5VUE5	OTTHUMG00000035659	ENST00000367393.3:c.354T>C	1.37:g.197875015T>C		NA	A1L4N2|Q5VUE4	37	CCDS44290.1	.	.	.	.	.	.	.	.	.	.	T	8.075	0.771042	0.16051	.	.	ENSG00000203724	ENST00000436652	.	.	.	5.73	-10.2	0.00374	.	.	.	.	.	T	0.31263	0.0791	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.40001	-0.9586	4	.	.	.	-5.4769	1.0786	0.01638	0.193:0.3039:0.198:0.305	.	.	.	.	R	55	.	.	C	+	1	0	C1orf53	196141638	0.023000	0.18921	0.698000	0.30274	0.812000	0.45895	-1.303000	0.02743	-1.811000	0.01229	0.533000	0.62120	TGC	C1orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086555.1		+	ENST00000367393.3	Silent	SNP	1 : 197875015 - 197875015 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	656	176
CAPN13	92291	broad.mit.edu	37	2	31010077	31010077	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31010077T>G	ENST00000295055.8	-	2	291	c.115A>C	c.(115-117)Aca>Cca	p.T39P	CAPN13_ENST00000534090.2_Missense_Mutation_p.T39P|CAPN13_ENST00000465960.2_5'UTR	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	39	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GCAGGGAATGTCTCATCCTTA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	49	48			NA	NA	2		NA											NA				31010077		1982	4163	6145	SO:0001583	missense				CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949	92291	92291			16663	protein-coding gene	gene with protein product		610228			NA	11675017	Standard	NM_144575	NM_144575	NA	Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.115A>C	2.37:g.31010077T>G	ENSP00000295055:p.Thr39Pro	NA	Q17RF0|Q580X1|Q8TE80	37	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	T	13.33	2.203808	0.38905	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	D;D	0.87650	-2.28;-2.28	5.91	3.46	0.39613	Peptidase C2, calpain, catalytic domain (3);	0.296884	0.36815	N	0.002391	D	0.90549	0.7038	M	0.81239	2.535	0.33205	D	0.552634	D	0.69078	0.997	D	0.67548	0.952	D	0.89689	0.3896	10	0.33940	T	0.23	.	4.8091	0.13335	0.1652:0.0869:0.0:0.7479	.	39	Q6MZZ7	CAN13_HUMAN	P	39	ENSP00000295055:T39P;ENSP00000431298:T39P	ENSP00000295055:T39P	T	-	1	0	CAPN13	30863581	0.609000	0.26975	0.990000	0.47175	0.135000	0.20990	1.198000	0.32223	2.266000	0.75297	0.533000	0.62120	ACA	CAPN13-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325101.2		-	ENST00000295055.8	Missense_Mutation	SNP	2 : 31010077 - 31010077 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	81	16
KIDINS220	57498	broad.mit.edu	37	2	8871069	8871069	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8871069G>A	ENST00000256707.3	-	30	5278	c.5097C>T	c.(5095-5097)ttC>ttT	p.F1699F	KIDINS220_ENST00000427284.1_Silent_p.F1680F|KIDINS220_ENST00000473731.1_Silent_p.F1680F|KIDINS220_ENST00000418530.1_Silent_p.F1600F	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1699					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCATCTCATCGAAATTTTGAT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	111	114			NA	NA	2		NA											NA				8871069		1908	4129	6037	SO:0001819	synonymous_variant			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313	57498	57498		Ankyrin repeat domain containing	29508	protein-coding gene	gene with protein product	ankyrin repeat-rich membrane-spanning protein	615759			NA	10998417, 10574462	Standard	NM_020738	NM_020738	NA	Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.5097C>T	2.37:g.8871069G>A		NA	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	37	CCDS42650.1																																																																																			KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323408.2		-	ENST00000256707.3	Silent	SNP	2 : 8871069 - 8871069 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	93
PRPF8	10594	broad.mit.edu	37	17	1585273	1585273	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1585273C>T	ENST00000572621.1	-	4	759	c.494G>A	c.(493-495)cGt>cAt	p.R165H	PRPF8_ENST00000304992.6_Missense_Mutation_p.R165H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	165						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AGGGGGAAAACGCATCCTCTT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	88	88			NA	NA	17		NA											NA				1585273		2203	4300	6503	SO:0001583	missense			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231	10594	10594			17340	protein-coding gene	gene with protein product		607300	PRP8 pre-mRNA processing factor 8 homolog (yeast), PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)	RP13	NA	11468273, 10411133	Standard		NM_006445	NA	Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.494G>A	17.37:g.1585273C>T	ENSP00000460348:p.Arg165His	NA	O14547|O75965	37	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	c	32	5.154767	0.94686	.	.	ENSG00000174231	ENST00000304992	T	0.55588	0.51	5.47	5.47	0.80525	Pre-mRNA-processing-splicing factor 8 (2);	0.000000	0.85682	D	0.000000	T	0.78117	0.4233	M	0.89287	3.02	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.82096	-0.0626	10	0.72032	D	0.01	.	19.3655	0.94460	0.0:1.0:0.0:0.0	.	165	Q6P2Q9	PRP8_HUMAN	H	165	ENSP00000304350:R165H	ENSP00000304350:R165H	R	-	2	0	PRPF8	1532023	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.789000	0.85783	2.580000	0.87095	0.550000	0.68814	CGT	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438412.2		-	ENST00000572621.1	Missense_Mutation	SNP	17 : 1585273 - 1585273 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	401	81
TEKT1	83659	broad.mit.edu	37	17	6733612	6733612	+	Translation_Start_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6733612G>A	ENST00000338694.2	-	2	213	c.84C>T	c.(82-84)gaC>gaT	p.D28D	TEKT1_ENST00000535086.1_De_novo_Start_OutOfFrame	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	28					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				ACCTTTGAGCGTCTGCTCTGT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	97	100			NA	NA	17		NA											NA				6733612		2203	4300	6503	SO:0001819	synonymous_variant				CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858	83659	83659			15534	protein-coding gene	gene with protein product		609002			NA	11606253	Standard	NM_053285	NM_053285	NA	Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.84C>T	17.37:g.6733612G>A		NA	D3DTM7	37	CCDS11083.1																																																																																			TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219867.2		-	ENST00000338694.2	Silent	SNP	17 : 6733612 - 6733612 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	350	36
ADAMTS3	9508	broad.mit.edu	37	4	73414462	73414462	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73414462C>T	ENST00000286657.4	-	3	273	c.237G>A	c.(235-237)caG>caA	p.Q79Q	ADAMTS3_ENST00000505193.1_5'UTR	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	79					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TAAAGAACAACTGCTCAGGGT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(168;1941 2048 2918 13048 43078)							NA				0													102	95	98			NA	NA	4		NA											NA				73414462		2203	4300	6503	SO:0001819	synonymous_variant			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	9508	9508	3.4.24.-	ADAM metallopeptidases with thrombospondin type 1 motif	219	protein-coding gene	gene with protein product		605011	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3		NA	10094461	Standard		NM_014243	NA	Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.237G>A	4.37:g.73414462C>T		NA	A1L3U9|Q9BXZ8	37	CCDS3553.1																																																																																			ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252164.2		-	ENST00000286657.4	Silent	SNP	4 : 73414462 - 73414462 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	466	95
KCNT1	57582	broad.mit.edu	37	9	138650335	138650335	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138650335C>A	ENST00000371757.2	+	10	902	c.835C>A	c.(835-837)Ctg>Atg	p.L279M	KCNT1_ENST00000487664.1_Missense_Mutation_p.L231M|KCNT1_ENST00000263604.3_Missense_Mutation_p.L260M|KCNT1_ENST00000486577.2_Missense_Mutation_p.L240M|KCNT1_ENST00000488444.2_Missense_Mutation_p.L260M|KCNT1_ENST00000491806.2_Missense_Mutation_p.L246M|KCNT1_ENST00000298480.5_Missense_Mutation_p.L279M|KCNT1_ENST00000490355.2_Missense_Mutation_p.L260M	NM_020822.2	NP_065873.2	B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	279						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CTGCACCCTGCTGTGCCTCGT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													239	183	202			NA	NA	9		NA											NA				138650335		2203	4300	6503	SO:0001583	missense			AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147	57582	57582		Potassium channels, Voltage-gated ion channels / Potassium channels, calcium-activated	18865	protein-coding gene	gene with protein product		608167			NA	10718198, 16382103	Standard	NM_020822	NM_020822	NA	Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000371757.2:c.835C>A	9.37:g.138650335C>A	ENSP00000360822:p.Leu279Met	NA		37	CCDS35175.2	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786275	0.49997	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000473941;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T;T	0.38560	1.6;1.13;1.13;1.13;1.13	4.58	3.44	0.39384	Ion transport 2 (1);	0.098778	0.42420	U	0.000702	T	0.57286	0.2043	M	0.68952	2.095	0.52099	D	0.999949	P;P;D;P	0.56035	0.767;0.607;0.974;0.607	P;P;P;P	0.61800	0.588;0.507;0.894;0.61	T	0.62718	-0.6795	10	0.72032	D	0.01	-27.2141	12.5974	0.56478	0.0:0.9008:0.0:0.0992	.	246;279;231;260	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	M	231;279;279;226;240;246;260;260;260	ENSP00000417851:L231M;ENSP00000298480:L279M;ENSP00000360822:L279M;ENSP00000420764:L226M;ENSP00000263604:L260M	ENSP00000263604:L260M	L	+	1	2	KCNT1	137790156	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	1.960000	0.40422	2.086000	0.62901	0.313000	0.20887	CTG	KCNT1-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055021.2		+	ENST00000371757.2	Missense_Mutation	SNP	9 : 138650335 - 138650335 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	511	102
ACTA1	58	broad.mit.edu	37	1	229568761	229568761	+	Silent	SNP	C	C	T	rs147303135		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229568761C>T	ENST00000366684.3	-	2	204	c.102G>A	c.(100-102)ccG>ccA	p.P34P	ACTA1_ENST00000366683.2_Silent_p.P34P	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	34					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	CCACGATGGACGGGAACACGG	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4404		0,0,2202	28	31	30		102	-9.4	0.1	1	dbSNP_134	30	1,8595		0,1,4297	no	coding-synonymous	ACTA1	NM_001100.3		0,1,6499	TT,TC,CC	NA	0.0116,0.0,0.0077		34/378	229568761	1,12999	2202	4298	6500	SO:0001819	synonymous_variant			J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632	58	58			129	protein-coding gene	gene with protein product	nemaline myopathy type 3	102610		ACTA	NA	10072583, 6865942	Standard	NM_001100	NM_001100	NA	Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.102G>A	1.37:g.229568761C>T		NA	P02568|P99020|Q5T8M9	37	CCDS1578.1																																																																																			ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092781.1		-	ENST00000366684.3	Silent	SNP	1 : 229568761 - 229568761 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	407	108
GPR17	2840	broad.mit.edu	37	2	128408687	128408687	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128408687C>T	ENST00000272644.3	+	3	536	c.462C>T	c.(460-462)agC>agT	p.S154S	LIMS2_ENST00000409808.2_Intron|GPR17_ENST00000393018.3_Silent_p.S154S|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000409455.1_Intron|GPR17_ENST00000544369.1_Silent_p.S154S|LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000486700.1_3'UTR	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	154						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CCTGCATCAGCGCCGACCGTT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	104	111			NA	NA	2		NA											NA				128408687		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230	NA	2840		GPCR / Class A : Orphans	4471	protein-coding gene	gene with protein product		603071			NA	8558062	Standard		NM_001161415	NA	Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.462C>T	2.37:g.128408687C>T		NA	A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	37	CCDS2148.1																																																																																			GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254390.1		+	ENST00000272644.3	Silent	SNP	2 : 128408687 - 128408687 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	839	69
TMPRSS9	360200	broad.mit.edu	37	19	2399065	2399065	+	Nonsense_Mutation	SNP	C	C	T	rs146863718		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2399065C>T	ENST00000332578.3	+	3	286	c.286C>T	c.(286-288)Cga>Tga	p.R96*		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	96					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		CTTTCTGCTGCGACCCCTCCA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	34	36			NA	NA	19		NA											NA				2399065		2203	4300	6503	SO:0001587	stop_gained			AJ488946	CCDS12088.1	19p13.3	2010-04-13					360200	360200		Serine peptidases / Transmembrane	30079	protein-coding gene	gene with protein product	polyserase 1	610477			NA	12886014	Standard	NM_182973	NM_182973	NA	Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.286C>T	19.37:g.2399065C>T	ENSP00000330264:p.Arg96*	NA	Q6ZND6|Q7Z411	37	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607283	0.87157	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	.	.	.	4.34	2.08	0.27032	.	1.477610	0.04838	N	0.439921	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.0588	0.25113	0.0:0.7286:0.1735:0.0979	.	.	.	.	X	130;96	.	ENSP00000330264:R96X	R	+	1	2	TMPRSS9	2350065	0.001000	0.12720	0.034000	0.17996	0.869000	0.49853	1.317000	0.33631	0.372000	0.24591	0.456000	0.33151	CGA	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451330.3		+	ENST00000332578.3	Nonsense_Mutation	SNP	19 : 2399065 - 2399065 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	133	22
NLRP12	91662	broad.mit.edu	37	19	54308655	54308655	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54308655C>T	ENST00000324134.6	-	5	2461	c.2293G>A	c.(2293-2295)Gct>Act	p.A765T	NLRP12_ENST00000391775.3_Missense_Mutation_p.A765T|NLRP12_ENST00000391772.1_Missense_Mutation_p.A766T|NLRP12_ENST00000351894.4_Missense_Mutation_p.A765T|NLRP12_ENST00000345770.5_Missense_Mutation_p.A766T|NLRP12_ENST00000391773.1_Missense_Mutation_p.A766T|NLRP12_ENST00000535162.1_Missense_Mutation_p.A765T|NLRP12_ENST00000354278.3_Missense_Mutation_p.A765T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	765					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCTATGAGAGCTGCAGAGAGG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	107	108			NA	NA	19		NA											NA				54308655		2203	4300	6503	SO:0001583	missense			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405	91662	91662		Nucleotide-binding domain and leucine rich repeat containing	22938	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12	609648	NACHT, leucine rich repeat and PYD containing 12	NALP12	NA	12563287, 12019269	Standard	NM_144687	NM_001277129	NA	Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.2293G>A	19.37:g.54308655C>T	ENSP00000319377:p.Ala765Thr	NA	Q8NEU4|Q9BY26	37	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.900593	0.52227	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000358661;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42	3.32	3.32	0.38043	.	.	.	.	.	T	0.64227	0.2579	L	0.48986	1.54	0.19575	N	0.999967	D;D;D;D;D	0.89917	0.999;0.991;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.985;0.939;0.997;0.998;0.999	T	0.50516	-0.8819	9	0.44086	T	0.13	.	10.3841	0.44129	0.0:1.0:0.0:0.0	.	766;48;765;765;765	F2Z321;P59046-5;A8K407;A8MTQ2;P59046	.;.;.;.;NAL12_HUMAN	T	765;765;765;765;48;765;766;766;766	ENSP00000319377:A765T;ENSP00000438030:A765T;ENSP00000340473:A765T;ENSP00000346231:A765T;ENSP00000375655:A765T;ENSP00000375653:A766T;ENSP00000375652:A766T	ENSP00000319377:A765T	A	-	1	0	NLRP12	59000467	0.018000	0.18449	0.017000	0.16124	0.245000	0.25701	2.587000	0.46128	1.893000	0.54813	0.289000	0.19496	GCT	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000134340.1		-	ENST00000324134.6	Missense_Mutation	SNP	19 : 54308655 - 54308655 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	892	155
LAMB1	3912	broad.mit.edu	37	7	107638873	107638873	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107638873C>A	ENST00000393561.1	-	2	534	c.350G>T	c.(349-351)aGc>aTc	p.S117I	LAMB1_ENST00000393560.1_Missense_Mutation_p.S93I|LAMB1_ENST00000222399.6_Missense_Mutation_p.S93I			P07942	LAMB1_HUMAN	laminin, beta 1	93	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AATGAGATGGCTGTCAGGATT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	139	147			NA	NA	7		NA											NA				107638873		2203	4300	6503	SO:0001583	missense			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136	3912	3912		Laminins	6486	protein-coding gene	gene with protein product		150240	cutis laxa with marfanoid phenotype	CLM	NA	2563160, 2704655, 1864606	Standard	NM_002291	NM_002291	NA	Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000393561.1:c.350G>T	7.37:g.107638873C>A	ENSP00000377191:p.Ser117Ile	NA	Q14D91	37		.	.	.	.	.	.	.	.	.	.	C	25.1	4.603508	0.87157	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560;ENST00000439976	T;T;T;T	0.77098	-1.03;-1.03;-1.03;-1.07	6.08	6.08	0.98989	Laminin, N-terminal (3);	.	.	.	.	D	0.90978	0.7163	M	0.89715	3.055	0.54753	D	0.99998	D;D;D;D	0.76494	0.998;0.988;0.999;0.999	D;D;D;D	0.79108	0.948;0.917;0.992;0.958	D	0.91522	0.5235	9	0.87932	D	0	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	179;93;93;117	C9J296;E7EPA6;P07942;G3XAI2	.;.;LAMB1_HUMAN;.	I	117;93;93;179	ENSP00000377191:S117I;ENSP00000222399:S93I;ENSP00000377190:S93I;ENSP00000412686:S179I	ENSP00000222399:S93I	S	-	2	0	LAMB1	107426109	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.792000	0.55476	2.894000	0.99253	0.655000	0.94253	AGC	LAMB1-003	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000314586.1		-	ENST00000393561.1	Missense_Mutation	SNP	7 : 107638873 - 107638873 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	501	75
CAMTA2	23125	broad.mit.edu	37	17	4883865	4883865	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4883865G>T	ENST00000572543.1	-	9	879	c.767C>A	c.(766-768)tCt>tAt	p.S256Y	CAMTA2_ENST00000348066.3_Missense_Mutation_p.S251Y|CAMTA2_ENST00000361571.5_Missense_Mutation_p.S250Y|CAMTA2_ENST00000358183.4_Missense_Mutation_p.S251Y|CAMTA2_ENST00000414043.3_Missense_Mutation_p.S274Y|CAMTA2_ENST00000381311.5_Missense_Mutation_p.S253Y			O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	251					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CACTTTGGGAGAGATGATGCG	0.587		NA									OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	110	107			NA	NA	17		NA											NA				4883865		2084	4217	6301	SO:0001583	missense			AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509	23125	23125			18807	protein-coding gene	gene with protein product		611508			NA	11925432	Standard	NM_015099	NM_015099	NA	Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000572543.1:c.767C>A	17.37:g.4883865G>T	ENSP00000460779:p.Ser256Tyr	622	B9EGL0|D3DTL5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	37		.	.	.	.	.	.	.	.	.	.	G	21.6	4.171901	0.78452	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.44083	2.19;1.24;0.93;1.24;1.01	4.61	4.61	0.57282	.	0.000000	0.64402	D	0.000007	T	0.50565	0.1623	N	0.24115	0.695	0.46927	D	0.999255	D;D;D;D	0.76494	0.999;0.999;0.996;0.997	D;D;D;D	0.91635	0.997;0.999;0.982;0.997	T	0.56165	-0.8024	10	0.87932	D	0	-16.0601	14.9845	0.71336	0.0:0.0:1.0:0.0	.	274;253;251;250	E7EWU5;O94983-3;O94983;O94983-4	.;.;CMTA2_HUMAN;.	Y	274;253;250;251;251	ENSP00000412886:S274Y;ENSP00000370712:S253Y;ENSP00000354828:S250Y;ENSP00000350910:S251Y;ENSP00000321813:S251Y	ENSP00000321813:S251Y	S	-	2	0	CAMTA2	4824589	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.218000	0.95166	2.388000	0.81334	0.650000	0.86243	TCT	CAMTA2-007	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000438757.1		-	ENST00000572543.1	Missense_Mutation	SNP	17 : 4883865 - 4883865 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	628	102
DSCC1	79075	broad.mit.edu	37	8	120855987	120855987	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120855987C>A	ENST00000313655.4	-	5	792	c.578G>T	c.(577-579)gGt>gTt	p.G193V		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	193					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CCTCCAATAACCTACAAATTT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	96	92			NA	NA	8		NA											NA				120855987		2203	4300	6503	SO:0001630	splice_region_variant				CCDS6330.1	8q24.12	2013-05-24	2013-05-24		ENSG00000136982	ENSG00000136982	79075	79075			24453	protein-coding gene	gene with protein product	defective in sister chromatid cohesion homolog 1 (S. cerevisiae)	613203	defective in sister chromatid cohesion 1 homolog (S. cerevisiae)		NA	12766176, 20826785	Standard	NM_024094	NM_024094	NA	Approved	DCC1, hDCC1, MGC5528	uc003yov.3	Q9BVC3	OTTHUMG00000165010	ENST00000313655.4:c.578-1G>T	8.37:g.120855987C>A		NA	Q969N5	37	CCDS6330.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312999	0.81358	.	.	ENSG00000136982	ENST00000313655	T	0.67865	-0.29	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.85379	0.5683	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87853	0.2659	10	0.87932	D	0	.	19.3011	0.94144	0.0:1.0:0.0:0.0	.	193	Q9BVC3	DCC1_HUMAN	V	193	ENSP00000322180:G193V	ENSP00000322180:G193V	G	-	2	0	DSCC1	120925168	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	7.560000	0.82277	2.642000	0.89623	0.650000	0.86243	GGT	DSCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381443.1	Missense_Mutation	-	ENST00000313655.4	Splice_Site	SNP	8 : 120855987 - 120855987 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	620	102
NDUFB5	4711	broad.mit.edu	37	3	179336307	179336307	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179336307A>G	ENST00000493866.1	+	3	316	c.291A>G	c.(289-291)ttA>ttG	p.L97L	NDUFB5_ENST00000259037.3_Silent_p.L149L|NDUFB5_ENST00000473500.1_3'UTR|NDUFB5_ENST00000472629.1_Silent_p.L137L	NM_001199957.1	NP_001186886.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	149					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		NADH(DB00157)	AGGCTGAATTACGGTAGGAAA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	56	56			NA	NA	3		NA											NA				179336307		2203	4300	6503	SO:0001819	synonymous_variant			AF047181	CCDS3234.1, CCDS56297.1, CCDS75054.1	3q27.1	2011-07-04	2002-08-29		ENSG00000136521	ENSG00000136521	4711	4711		Mitochondrial respiratory chain complex / Complex I	7700	protein-coding gene	gene with protein product	complex I SGDH subunit	603841	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5 (16kD, SGDH)		NA	9425316	Standard	NM_002492	NM_002492	NA	Approved	SGDH, CI-SGDH, MGC12314	uc003fkc.3	O43674	OTTHUMG00000157480	ENST00000493866.1:c.291A>G	3.37:g.179336307A>G		NA		37	CCDS56297.1	.	.	.	.	.	.	.	.	.	.	A	14.51	2.557860	0.45590	.	.	ENSG00000136521	ENST00000482604	.	.	.	5.97	4.84	0.62591	.	.	.	.	.	T	0.54159	0.1841	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53711	-0.8400	4	.	.	.	-13.992	5.3624	0.16095	0.7091:0.1802:0.1107:0.0	.	.	.	.	C	166	.	.	Y	+	2	0	NDUFB5	180819001	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	1.831000	0.39141	2.284000	0.76573	0.523000	0.50628	TAC	NDUFB5-002	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348938.1		+	ENST00000493866.1	Silent	SNP	3 : 179336307 - 179336307 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	168	32
TMEM150B	284417	broad.mit.edu	37	19	55824302	55824302	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55824302G>T	ENST00000326652.4	-	8	809	c.627C>A	c.(625-627)tgC>tgA	p.C209*	TMEM150B_ENST00000438693.1_Nonsense_Mutation_p.C209*	NM_001282011.1	NP_001268940.1	A6NC51	T150B_HUMAN	transmembrane protein 150B	209						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						CACACAGGGTGCAGCTCTCCA	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	29	27			NA	NA	19		NA											NA				55824302		2135	4248	6383	SO:0001587	stop_gained			BC020862	CCDS42629.1	19q13.42	2009-06-12	2009-06-12	2009-06-12		ENSG00000180061	284417	284417			34415	protein-coding gene	gene with protein product			transmembrane protein 224	TMEM224	NA		Standard	NM_001085488	XM_005258812	NA	Approved		uc010esw.1	A6NC51		ENST00000326652.4:c.627C>A	19.37:g.55824302G>T	ENSP00000320757:p.Cys209*	NA	B7ZW71	37	CCDS42629.1	.	.	.	.	.	.	.	.	.	.	.	15.46	2.839759	0.51057	.	.	ENSG00000180061	ENST00000326652;ENST00000438693	.	.	.	4.55	2.4	0.29515	.	0.319446	0.33854	N	0.004487	.	.	.	.	.	.	0.54753	D	0.999986	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-31.8358	7.383	0.26866	0.2106:0.0:0.7894:0.0	.	.	.	.	X	209	.	ENSP00000320757:C209X	C	-	3	2	TMEM150B	60516114	0.498000	0.26075	0.996000	0.52242	0.190000	0.23558	0.360000	0.20250	0.622000	0.30249	-0.350000	0.07774	TGC	TMEM150B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452685.1		-	ENST00000326652.4	Nonsense_Mutation	SNP	19 : 55824302 - 55824302 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	127	24
ACADSB	36	broad.mit.edu	37	10	124800860	124800860	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124800860C>T	ENST00000368869.4	+	4	592	c.340C>T	c.(340-342)Ctc>Ttc	p.L114F	ACADSB_ENST00000358776.4_Missense_Mutation_p.L216F|ACADSB_ENST00000496730.2_3'UTR			P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	216					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	GCACGCAGGGCTCTTTCTGGT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	133	135			NA	NA	10		NA											NA				124800860		2203	4300	6503	SO:0001583	missense			U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	36	36	1.3.99.-		91	protein-coding gene	gene with protein product		600301	acyl-Coenzyme A dehydrogenase, short/branched chain		NA	7698750, 7759115	Standard	NM_001609	NM_001609	NA	Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000368869.4:c.340C>T	10.37:g.124800860C>T	ENSP00000357862:p.Leu114Phe	NA	Q96CX7	37		.	.	.	.	.	.	.	.	.	.	C	7.442	0.640989	0.14386	.	.	ENSG00000196177	ENST00000368869;ENST00000358776	D;D	0.95482	-3.72;-3.72	6.01	2.67	0.31697	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.191034	0.45126	D	0.000390	D	0.85923	0.5810	N	0.04636	-0.2	0.44899	D	0.997917	B	0.15930	0.015	B	0.18263	0.021	T	0.79766	-0.1665	10	0.27785	T	0.31	.	8.0122	0.30359	0.3112:0.3526:0.3362:0.0	.	216	P45954	ACDSB_HUMAN	F	114;216	ENSP00000357862:L114F;ENSP00000357873:L216F	ENSP00000357873:L216F	L	+	1	0	ACADSB	124790850	0.884000	0.30299	0.868000	0.34077	0.187000	0.23431	1.331000	0.33793	1.514000	0.48869	0.650000	0.86243	CTC	ACADSB-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000402204.1		+	ENST00000368869.4	Missense_Mutation	SNP	10 : 124800860 - 124800860 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	782	122
ANKS3	124401	broad.mit.edu	37	16	4764060	4764060	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4764060C>T	ENST00000304283.4	-	7	995	c.701G>A	c.(700-702)cGg>cAg	p.R234Q	ANKS3_ENST00000446014.2_Missense_Mutation_p.R105Q|ANKS3_ENST00000585773.1_Missense_Mutation_p.R161Q|ANKS3_ENST00000450067.2_Missense_Mutation_p.R28Q	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	234										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						ACCTGGGCTCCGATAGAGGCT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	GLN/ARG,GLN/ARG	0,4394		0,0,2197	86	67	73		380,701	4.7	1	16		73	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ANKS3	NM_001242929.1,NM_133450.3	43,43	0,1,6496	TT,TC,CC	NA	0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	127/550,234/657	4764060	1,12993	2197	4300	6497	SO:0001583	missense			AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096	124401	124401		Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	29422	protein-coding gene	gene with protein product					NA	11853319	Standard	NM_133450	NM_133450	NA	Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.701G>A	16.37:g.4764060C>T	ENSP00000304586:p.Arg234Gln	NA	B4DWU4|D3DUE2|Q8TF25	37	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.909587	0.92107	0.0	1.16E-4	ENSG00000168096	ENST00000304283;ENST00000446014;ENST00000450067	T;T;T	0.52754	1.21;2.98;0.65	4.74	4.74	0.60224	.	0.393434	0.23023	N	0.052828	T	0.66107	0.2756	M	0.69823	2.125	0.40360	D	0.979238	D;D	0.89917	1.0;1.0	D;D	0.69824	0.966;0.944	T	0.67902	-0.5550	10	0.48119	T	0.1	-7.6051	14.5727	0.68224	0.0:1.0:0.0:0.0	.	28;234	Q6ZWA7;Q6ZW76	.;ANKS3_HUMAN	Q	234;105;28	ENSP00000304586:R234Q;ENSP00000406796:R105Q;ENSP00000388270:R28Q	ENSP00000304586:R234Q	R	-	2	0	ANKS3	4704061	1.000000	0.71417	0.992000	0.48379	0.945000	0.59286	4.192000	0.58378	2.472000	0.83506	0.561000	0.74099	CGG	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251642.3		-	ENST00000304283.4	Missense_Mutation	SNP	16 : 4764060 - 4764060 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	348	70
SAMHD1	25939	broad.mit.edu	37	20	35563450	35563450	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35563450C>T	ENST00000262878.4	-	4	690	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	SAMHD1_ENST00000373694.5_5'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	164	HD.				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				ATGCTCAAATCGATTGTGTGA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	108	110			NA	NA	20		NA											NA				35563450		2203	4300	6503	SO:0001583	missense			AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347	25939	25939		Sterile alpha motif (SAM) domain containing	15925	protein-coding gene	gene with protein product	HD domain containing 1, monocyte protein 5, Aicardi-Goutieres syndrome 5	606754			NA	11064105, 11230166	Standard	NM_015474	NM_015474	NA	Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.491G>A	20.37:g.35563450C>T	ENSP00000262878:p.Arg164Gln	NA	B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	37	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	C	36	5.808521	0.96967	.	.	ENSG00000101347	ENST00000262878	D	0.99936	-8.3	6.05	6.05	0.98169	Metal-dependent phosphohydrolase, HD domain (1);Metal-dependent phosphohydrolase, HD subdomain (1);HD domain (1);	0.000000	0.85682	D	0.000000	D	0.99963	0.9985	H	0.99090	4.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96570	0.9422	10	0.87932	D	0	-14.9894	20.6013	0.99457	0.0:1.0:0.0:0.0	.	164	Q9Y3Z3	SAMH1_HUMAN	Q	164	ENSP00000262878:R164Q	ENSP00000262878:R164Q	R	-	2	0	SAMHD1	34996864	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	2.878000	0.98634	0.650000	0.86243	CGA	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079062.2		-	ENST00000262878.4	Missense_Mutation	SNP	20 : 35563450 - 35563450 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	461	103
SLC36A4	120103	broad.mit.edu	37	11	92901261	92901261	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92901261C>T	ENST00000529184.1	-	7	796	c.212G>A	c.(211-213)aGt>aAt	p.S71N	SLC36A4_ENST00000326402.4_Missense_Mutation_p.S206N			Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	206					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TAGGTCAACACTTCTTCTCTC	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	126	126			NA	NA	11		NA											NA				92901261		2201	4296	6497	SO:0001583	missense			AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773	120103	120103		Solute carriers	19660	protein-coding gene	gene with protein product		613760			NA		Standard		XM_005273758	NA	Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000529184.1:c.212G>A	11.37:g.92901261C>T	ENSP00000436570:p.Ser71Asn	NA	Q86X30|Q8IVM5|Q8N8S6	37		.	.	.	.	.	.	.	.	.	.	C	12.82	2.052602	0.36181	.	.	ENSG00000180773	ENST00000326402;ENST00000529184;ENST00000534116	T;T;T	0.02301	4.35;4.35;4.35	5.47	2.57	0.30868	.	0.178651	0.51477	N	0.000097	T	0.01940	0.0061	N	0.24115	0.695	0.24548	N	0.994039	B	0.15141	0.012	B	0.25614	0.062	T	0.46693	-0.9173	10	0.28530	T	0.3	-9.6457	8.2408	0.31658	0.0:0.5642:0.2946:0.1412	.	206	Q6YBV0	S36A4_HUMAN	N	206;71;100	ENSP00000317382:S206N;ENSP00000436570:S71N;ENSP00000432061:S100N	ENSP00000317382:S206N	S	-	2	0	SLC36A4	92540909	0.323000	0.24643	0.996000	0.52242	0.996000	0.88848	0.337000	0.19841	0.275000	0.22094	0.650000	0.86243	AGT	SLC36A4-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000394331.1		-	ENST00000529184.1	Missense_Mutation	SNP	11 : 92901261 - 92901261 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	344	66
HIST1H2BF	8343	broad.mit.edu	37	6	26200158	26200158	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26200158C>A	ENST00000359985.1	+	1	411	c.372C>A	c.(370-372)agC>agA	p.S124R		NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	124					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				AGTACACCAGCTCTAAGTAAT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	62	60			NA	NA	6		NA											NA				26200158		2203	4300	6503	SO:0001583	missense			Z80779	CCDS4592.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197846	ENSG00000277224	8343	8343		Histones / Replication-dependent	4752	protein-coding gene	gene with protein product		602804	H2B histone family, member G, histone 1, H2bf	H2BFG	NA	9119399, 12408966	Standard	NM_003522	NM_003522	NA	Approved	H2B/g	uc003ngx.3	P62807	OTTHUMG00000014445	ENST00000359985.1:c.372C>A	6.37:g.26200158C>A	ENSP00000353074:p.Ser124Arg	NA	P02278|Q3B872|Q4VB69|Q93078|Q93080	37	CCDS4592.1	.	.	.	.	.	.	.	.	.	.	.	16.40	3.113885	0.56398	.	.	ENSG00000197846	ENST00000359985	T	0.24538	1.85	3.89	2.08	0.27032	.	0.000000	0.64402	D	0.000004	T	0.18509	0.0444	.	.	.	0.30597	N	0.760949	.	.	.	.	.	.	T	0.03717	-1.1010	7	0.87932	D	0	.	9.6316	0.39782	0.0:0.8218:0.0:0.1782	.	.	.	.	R	124	ENSP00000353074:S124R	ENSP00000353074:S124R	S	+	3	2	HIST1H2BF	26308137	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	2.138000	0.42140	0.384000	0.24942	-0.827000	0.03088	AGC	HIST1H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040108.1		+	ENST00000359985.1	Missense_Mutation	SNP	6 : 26200158 - 26200158 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	61
ZNF808	388558	broad.mit.edu	37	19	53058088	53058088	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53058088G>A	ENST00000359798.4	+	5	2099	c.1919G>A	c.(1918-1920)cGa>cAa	p.R640Q		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	640					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CAGCTGGCACGACATACAAGA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	70	69			NA	NA	19		NA											NA				53058088		2201	4299	6500	SO:0001583	missense			CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482	388558	388558		Zinc fingers, C2H2-type, -	33230	protein-coding gene	gene with protein product					NA		Standard	NM_001039886	NM_001039886	NA	Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.1919G>A	19.37:g.53058088G>A	ENSP00000352846:p.Arg640Gln	NA	Q68CN7	37	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	0.680	-0.798472	0.02841	.	.	ENSG00000198482	ENST00000359798	T	0.07216	3.21	1.58	-3.16	0.05217	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04003	0.0112	N	0.25201	0.72	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45702	-0.9243	9	0.12430	T	0.62	.	3.3187	0.07043	0.2243:0.0:0.2726:0.503	.	640	Q8N4W9	ZN808_HUMAN	Q	640	ENSP00000352846:R640Q	ENSP00000352846:R640Q	R	+	2	0	ZNF808	57749900	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-8.414000	0.00021	-1.761000	0.01310	-0.752000	0.03492	CGA	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350447.3		+	ENST00000359798.4	Missense_Mutation	SNP	19 : 53058088 - 53058088 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	415	88
PROP1	5626	broad.mit.edu	37	5	177421242	177421242	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177421242C>T	ENST00000308304.2	-	2	515	c.207G>A	c.(205-207)cgG>cgA	p.R69R		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	69					central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTGGCGGCGCCGGGAGTGCG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	39	38			NA	NA	5		NA											NA				177421242		2203	4300	6503	SO:0001819	synonymous_variant			AF076215	CCDS4430.1	5q35.3	2011-06-20	2007-07-12		ENSG00000175325	ENSG00000175325	5626	5626		Homeoboxes / PRD class	9455	protein-coding gene	gene with protein product		601538	prophet of Pit1, paired-like homeodomain transcription factor		NA	9462743	Standard	NM_006261	NM_006261	NA	Approved		uc003mif.1	O75360	OTTHUMG00000130887	ENST00000308304.2:c.207G>A	5.37:g.177421242C>T		NA		37	CCDS4430.1																																																																																			PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253472.1		-	ENST00000308304.2	Silent	SNP	5 : 177421242 - 177421242 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	457	77
RIOK3	8780	broad.mit.edu	37	18	21057190	21057190	+	Silent	SNP	C	C	T	rs56187215		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21057190C>T	ENST00000581585.1	+	11	1407	c.1254C>T	c.(1252-1254)caC>caT	p.H418H	RIOK3_ENST00000339486.3_Silent_p.H434H|RIOK3_ENST00000577501.1_Silent_p.H434H			O14730	RIOK3_HUMAN	RIO kinase 3	434	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCCACCCTCACGGCCTGGAGT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	138	144			NA	NA	18		NA											NA				21057190		2203	4300	6503	SO:0001819	synonymous_variant			AF013591	CCDS11877.1	18q11.2	2012-12-10	2012-12-10	2003-06-25	ENSG00000101782	ENSG00000101782	8780	8780			11451	protein-coding gene	gene with protein product		603579	sudD (suppressor of bimD6, Aspergillus nidulans) homolog, RIO kinase 3 (yeast)	SUDD	NA	9602165	Standard	NM_003831	NM_003831	NA	Approved		uc002kui.4	O14730	OTTHUMG00000131813	ENST00000581585.1:c.1254C>T	18.37:g.21057190C>T		NA	Q8IXN9	37																																																																																				RIOK3-008	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000445291.1		+	ENST00000581585.1	Silent	SNP	18 : 21057190 - 21057190 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	603	134
MAP3K1	4214	broad.mit.edu	37	5	56155658	56155658	+	Silent	SNP	T	T	C	rs67178207		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56155658T>C	ENST00000399503.3	+	3	750	c.750T>C	c.(748-750)agT>agC	p.S250S	AC008937.2_ENST00000415589.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	250					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GCCGACGCAGTCCTTCTCCTG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	45	45			NA	NA	5		NA											NA				56155658		1925	4130	6055	SO:0001819	synonymous_variant			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015	4214	4214		Mitogen-activated protein kinase cascade / Kinase kinase kinases	6848	protein-coding gene	gene with protein product		600982	mitogen-activated protein kinase kinase kinase 1	MEKK1	NA	8597633	Standard	XM_042066	NM_005921	NA	Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.750T>C	5.37:g.56155658T>C		NA		37	CCDS43318.1																																																																																			MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132309.2		+	ENST00000399503.3	Silent	SNP	5 : 56155658 - 56155658 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	183	28
MMP7	4316	broad.mit.edu	37	11	102394121	102394121	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102394121G>T	ENST00000260227.4	-	5	677	c.625C>A	c.(625-627)Ctg>Atg	p.L209M		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	209					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)		GCAGCATACAGGAAGTTAATC	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	87	89			NA	NA	11		NA											NA				102394121		2203	4299	6502	SO:0001583	missense			Z11887	CCDS8317.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000137673	ENSG00000137673	4316	4316	3.4.24.23		7174	protein-coding gene	gene with protein product		178990	matrix metalloproteinase 7 (matrilysin, uterine)	MPSL1	NA	8978768	Standard		NM_002423	NA	Approved	PUMP-1	uc001phb.3	P09237	OTTHUMG00000048193	ENST00000260227.4:c.625C>A	11.37:g.102394121G>T	ENSP00000260227:p.Leu209Met	NA	Q9BTK9	37	CCDS8317.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.877973	0.51801	.	.	ENSG00000137673	ENST00000260227	T	0.22539	1.95	5.23	1.88	0.25563	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.722580	0.11909	N	0.517868	T	0.42944	0.1225	M	0.79475	2.455	0.09310	N	0.999992	D	0.89917	1.0	D	0.77004	0.989	T	0.12682	-1.0538	10	0.87932	D	0	-2.0711	6.7537	0.23501	0.4982:0.0:0.5018:0.0	.	209	P09237	MMP7_HUMAN	M	209	ENSP00000260227:L209M	ENSP00000260227:L209M	L	-	1	2	MMP7	101899331	.	.	0.384000	0.26145	0.945000	0.59286	.	.	0.609000	0.30018	0.557000	0.71058	CTG	MMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109633.2		-	ENST00000260227.4	Missense_Mutation	SNP	11 : 102394121 - 102394121 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	390	78
PPP1R7	5510	broad.mit.edu	37	2	242122122	242122122	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242122122C>A	ENST00000234038.6	+	10	1441	c.967C>A	c.(967-969)Ctg>Atg	p.L323M	PPP1R7_ENST00000272983.8_Missense_Mutation_p.L280M|PPP1R7_ENST00000407025.1_Missense_Mutation_p.L323M	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	323						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		AGCCAGGAGCCTGGAGACAGT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(62;446 1299 5417 11238 27640)							NA				0													121	114	116			NA	NA	2		NA											NA				242122122		2203	4300	6503	SO:0001583	missense			AF067136	CCDS2546.1, CCDS63190.1, CCDS63192.1, CCDS63193.1, CCDS63194.1	2q37.3	2012-04-17	2011-10-04		ENSG00000115685	ENSG00000115685	5510	5510		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	9295	protein-coding gene	gene with protein product		602877	protein phosphatase 1, regulatory (inhibitor) subunit 7		NA	7498485, 7670491, 10231361	Standard	NM_002712	NM_001282413	NA	Approved	sds22	uc002wat.1	Q15435	OTTHUMG00000133390	ENST00000234038.6:c.967C>A	2.37:g.242122122C>A	ENSP00000234038:p.Leu323Met	NA	B4DFD4|Q9UQE5|Q9UQE6|Q9Y6K4	37	CCDS2546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.410388|4.410388	0.83340|0.83340	.|.	.|.	ENSG00000115685|ENSG00000115685	ENST00000423280;ENST00000407025;ENST00000272983;ENST00000234038|ENST00000415769	T;T;T;T|.	0.54071|.	0.59;0.59;0.59;0.59|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.81394|0.81394	0.4813|0.4813	M|M	0.93016|0.93016	3.37|3.37	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;D;D|.	0.80764|.	0.992;0.982;0.994|.	D|D	0.85414|0.85414	0.1139|0.1139	10|5	0.66056|.	D|.	0.02|.	-9.5125|-9.5125	11.7306|11.7306	0.51735|0.51735	0.0:0.9139:0.0:0.0861|0.0:0.9139:0.0:0.0861	.|.	264;280;323|.	C9J177;Q15435-2;Q15435|.	.;.;PP1R7_HUMAN|.	M|H	264;323;280;323|44	ENSP00000412092:L264M;ENSP00000385657:L323M;ENSP00000272983:L280M;ENSP00000234038:L323M|.	ENSP00000234038:L323M|.	L|P	+|+	1|2	2|0	PPP1R7|PPP1R7	241770795|241770795	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.917000|0.917000	0.54804|0.54804	4.465000|4.465000	0.60141|0.60141	2.417000|2.417000	0.82017|0.82017	0.467000|0.467000	0.42956|0.42956	CTG|CCT	PPP1R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257244.4		+	ENST00000234038.6	Missense_Mutation	SNP	2 : 242122122 - 242122122 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	480	22
PKDREJ	10343	broad.mit.edu	37	22	46657717	46657717	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46657717A>G	ENST00000253255.5	-	1	1502	c.1503T>C	c.(1501-1503)ggT>ggC	p.G501G		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	501	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATAGCATCTCACCACCTGAAG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	173	166			NA	NA	22		NA											NA				46657717		2203	4300	6503	SO:0001819	synonymous_variant			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943	10343	10343			9015	protein-coding gene	gene with protein product		604670	polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like, polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like, polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)		NA	9949214, 10591208	Standard	NM_006071	NM_006071	NA	Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.1503T>C	22.37:g.46657717A>G		NA	B1AJY3|O95850	37	CCDS14073.1																																																																																			PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318466.1		-	ENST00000253255.5	Silent	SNP	22 : 46657717 - 46657717 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1141	254
STRN3	29966	broad.mit.edu	37	14	31416418	31416418	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31416418C>A	ENST00000355683.5	-	5	809	c.594G>T	c.(592-594)caG>caT	p.Q198H	STRN3_ENST00000357479.5_Missense_Mutation_p.Q198H	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	198					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		ACCTTACCCGCTGAGACCGTA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	145	147			NA	NA	14		NA											NA				31416418		2203	4300	6503	SO:0001583	missense				CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792	29966	29966		WD repeat domain containing	15720	protein-coding gene	gene with protein product	cell cycle S/G2 nuclear autoantigen	614766			NA	7864889, 10681496	Standard	NM_014574	NM_014574	NA	Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000355683.5:c.594G>T	14.37:g.31416418C>A	ENSP00000347909:p.Gln198His	NA	A2RTX7|A6NHZ7|Q9NRA5	37	CCDS9641.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491504	0.44249	.	.	ENSG00000196792	ENST00000355683;ENST00000357479;ENST00000555152	D;D	0.86097	-2.07;-2.07	5.9	4.06	0.47325	.	0.000000	0.85682	D	0.000000	T	0.80276	0.4593	L	0.50333	1.59	0.54753	D	0.999983	P;B	0.51351	0.944;0.035	B;B	0.41202	0.35;0.028	T	0.78866	-0.2035	10	0.54805	T	0.06	0.5774	10.3793	0.44101	0.0:0.8053:0.0:0.1947	.	198;198	Q13033-2;Q13033	.;STRN3_HUMAN	H	198;198;79	ENSP00000347909:Q198H;ENSP00000350071:Q198H	ENSP00000347909:Q198H	Q	-	3	2	STRN3	30486169	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.598000	0.36740	0.812000	0.34326	0.591000	0.81541	CAG	STRN3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276609.2		-	ENST00000355683.5	Missense_Mutation	SNP	14 : 31416418 - 31416418 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	618	83
PIAS4	51588	broad.mit.edu	37	19	4037768	4037768	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4037768G>A	ENST00000262971.2	+	11	1543	c.1428G>A	c.(1426-1428)tcG>tcA	p.S476S		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	476	Asp/Glu-rich (acidic).				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCGTCCTCggaggatgagg	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	16	16			NA	NA	19		NA											NA				4037768		2188	4284	6472	SO:0001819	synonymous_variant			AF077952	CCDS12118.1	19p13.3	2011-10-11					51588	51588		Zinc fingers, MIZ-type	17002	protein-coding gene	gene with protein product	zinc finger, MIZ-type containing 6	605989			NA	9724754	Standard	NM_015897	NM_015897	NA	Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.1428G>A	19.37:g.4037768G>A		NA	O75926|Q96G19|Q9UN16	37	CCDS12118.1																																																																																			PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457496.1		+	ENST00000262971.2	Silent	SNP	19 : 4037768 - 4037768 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	97	19
ZNF236	7776	broad.mit.edu	37	18	74620380	74620380	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74620380A>C	ENST00000253159.8	+	14	2594	c.2396A>C	c.(2395-2397)gAg>gCg	p.E799A	ZNF236_ENST00000320610.9_Missense_Mutation_p.E801A	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	799					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		ATGCAGGTGGAGATCGAGAGC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	75	72			NA	NA	18		NA											NA				74620380		2099	4216	6315	SO:0001583	missense			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856	7776	7776		Zinc fingers, C2H2-type	13028	protein-coding gene	gene with protein product		604760			NA	10458916	Standard		NM_007345	NA	Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.2396A>C	18.37:g.74620380A>C	ENSP00000253159:p.Glu799Ala	NA	B2RTX9|Q9UL37	37	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	A	10.23	1.292833	0.23564	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.11385	2.78;2.94	5.23	4.07	0.47477	.	0.263343	0.35495	N	0.003164	T	0.12987	0.0315	M	0.65975	2.015	0.36641	D	0.876866	B	0.24483	0.104	B	0.19148	0.024	T	0.06110	-1.0845	10	0.33940	T	0.23	.	10.9976	0.47585	0.9261:0.0:0.0739:0.0	.	799	Q9UL36	ZN236_HUMAN	A	799	ENSP00000253159:E799A;ENSP00000444524:E799A	ENSP00000253159:E799A	E	+	2	0	ZNF236	72749368	1.000000	0.71417	0.353000	0.25747	0.228000	0.25075	4.800000	0.62524	0.941000	0.37499	0.460000	0.39030	GAG	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445776.1		+	ENST00000253159.8	Missense_Mutation	SNP	18 : 74620380 - 74620380 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	696	119
SSTR4	6754	broad.mit.edu	37	20	23016448	23016448	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23016448C>T	ENST00000255008.3	+	1	392	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	110					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGCCGCCCTGCGCCACTGGCC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(15;850 1104 16640)							NA				0													85	85	85			NA	NA	20		NA											NA				23016448		2201	4297	6498	SO:0001583	missense				CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671	6754	6754		GPCR / Class A : Somatostatin receptors	11333	protein-coding gene	gene with protein product		182454			NA	8483934	Standard		NM_001052	NA	Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.328C>T	20.37:g.23016448C>T	ENSP00000255008:p.Arg110Cys	NA	Q17RM1|Q17RM3|Q9UIY1	37	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357829	0.61403	.	.	ENSG00000132671	ENST00000255008	T	0.20463	2.07	3.73	2.78	0.32641	GPCR, rhodopsin-like superfamily (1);	0.181706	0.36854	U	0.002378	T	0.39064	0.1064	M	0.76328	2.33	0.39071	D	0.96071	D	0.61697	0.99	P	0.61658	0.892	T	0.31530	-0.9940	10	0.51188	T	0.08	.	9.8498	0.41051	0.0:0.8954:0.0:0.1045	.	110	P31391	SSR4_HUMAN	C	110	ENSP00000255008:R110C	ENSP00000255008:R110C	R	+	1	0	SSTR4	22964448	0.663000	0.27448	0.988000	0.46212	0.966000	0.64601	1.491000	0.35583	0.765000	0.33221	0.561000	0.74099	CGC	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078308.1		+	ENST00000255008.3	Missense_Mutation	SNP	20 : 23016448 - 23016448 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	894	92
KNDC1	85442	broad.mit.edu	37	10	134996942	134996942	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134996942C>T	ENST00000304613.3	+	4	476	c.455C>T	c.(454-456)gCg>gTg	p.A152V	KNDC1_ENST00000368571.2_Missense_Mutation_p.A87V|KNDC1_ENST00000368572.2_Missense_Mutation_p.A152V			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	152	KIND 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GACCTCGAGGCGCTGCTGAGC	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	25	25			NA	NA	10		NA											NA				134996942		2198	4296	6494	SO:0001583	missense			AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798	85442	85442			29374	protein-coding gene	gene with protein product			RasGEF domain family, member 2	RASGEF2, C10orf23	NA	11214970	Standard	NM_152643	NM_152643	NA	Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.455C>T	10.37:g.134996942C>T	ENSP00000304437:p.Ala152Val	NA	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	37	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034408	0.35893	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.74209	-0.82;-0.82;2.17	4.39	0.088	0.14452	KIND (2);	0.821147	0.10660	N	0.648876	T	0.52645	0.1747	L	0.36672	1.1	0.19300	N	0.99997	B;P	0.35011	0.086;0.48	B;B	0.21151	0.011;0.033	T	0.38757	-0.9646	10	0.36615	T	0.2	-2.8011	1.4725	0.02419	0.1652:0.461:0.1731:0.2008	.	87;152	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	V	152;152;87	ENSP00000304437:A152V;ENSP00000357561:A152V;ENSP00000357560:A87V	ENSP00000304437:A152V	A	+	2	0	KNDC1	134846932	0.000000	0.05858	0.970000	0.41538	0.924000	0.55760	-0.626000	0.05527	-0.182000	0.10602	0.450000	0.29827	GCG	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277044.3		+	ENST00000304613.3	Missense_Mutation	SNP	10 : 134996942 - 134996942 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	79	13
LRRC7	57554	broad.mit.edu	37	1	70226019	70226019	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70226019C>T	ENST00000310961.5	+	4	565	c.147C>T	c.(145-147)ttC>ttT	p.F49F	LRRC7_ENST00000035383.5_Silent_p.F44F|LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Silent_p.F82F			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	44						centrosome|focal adhesion|nucleolus	protein binding	p.F44F(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TCTTTAACTTCGAACGAACAT	0.393		NA											C	1	5e-04	0.002	NA	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9181	EXOME	NA	NA	6e-04	SNP								NA				1	Substitution - coding silent(1)	large_intestine(1)											84	83	83			NA	NA	1		NA											NA				70226019		2203	4300	6503	SO:0001819	synonymous_variant				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122	57554	57554			18531	protein-coding gene	gene with protein product		614453			NA	12525888	Standard	NM_020794	NM_020794	NA	Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000310961.5:c.147C>T	1.37:g.70226019C>T		NA	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	37																																																																																				LRRC7-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000131262.2		+	ENST00000310961.5	Silent	SNP	1 : 70226019 - 70226019 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	330	33
GAK	2580	broad.mit.edu	37	4	845717	845717	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:845717G>A	ENST00000314167.4	-	25	3439	c.3329C>T	c.(3328-3330)gCc>gTc	p.A1110V	GAK_ENST00000511163.1_Missense_Mutation_p.A1031V|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1110					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGGCGTGGTGGCCGTTTTGGG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	58	56			NA	NA	4		NA											NA				845717		2203	4300	6503	SO:0001583	missense			D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950	2580	2580		Heat shock proteins / DNAJ (HSP40)	4113	protein-coding gene	gene with protein product	auxilin-2	602052			NA	9299234	Standard	NM_005255	NM_005255	NA	Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.3329C>T	4.37:g.845717G>A	ENSP00000314499:p.Ala1110Val	NA	Q9BVY6	37	CCDS3340.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.19|16.19	3.052048|3.052048	0.55218|0.55218	.|.	.|.	ENSG00000178950|ENSG00000178950	ENST00000398567;ENST00000314167;ENST00000511163|ENST00000511980	T;T|.	0.78816|.	-0.75;-1.21|.	4.69|4.69	0.642|0.642	0.17765|0.17765	.|.	0.900083|.	0.09447|.	N|.	0.800923|.	T|T	0.32585|0.32585	0.0834|0.0834	L|L	0.39147|0.39147	1.195|1.195	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.23442|.	0.085;0.031;0.085;0.038|.	B;B;B;B|.	0.21151|.	0.033;0.006;0.033;0.022|.	T|T	0.25984|0.25984	-1.0116|-1.0116	10|5	0.51188|.	T|.	0.08|.	-19.6619|-19.6619	4.9436|4.9436	0.13978|0.13978	0.1951:0.3334:0.4715:0.0|0.1951:0.3334:0.4715:0.0	.|.	1012;1031;1110;995|.	B4DS37;E9PGR2;O14976;Q59HA5|.	.;.;GAK_HUMAN;.|.	V|S	386;1110;1031|266	ENSP00000314499:A1110V;ENSP00000421361:A1031V|.	ENSP00000314499:A1110V|.	A|P	-|-	2|1	0|0	GAK|GAK	835717|835717	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.575000|0.575000	0.23729|0.23729	0.179000|0.179000	0.19938|0.19938	0.561000|0.561000	0.74099|0.74099	GCC|CCA	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239188.1		-	ENST00000314167.4	Missense_Mutation	SNP	4 : 845717 - 845717 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	244	46
SERPINE1	5054	broad.mit.edu	37	7	100779051	100779051	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100779051C>T	ENST00000445463.2	+	8	1159	c.1011C>T	c.(1009-1011)aaC>aaT	p.N337N	SERPINE1_ENST00000223095.4_Silent_p.N352N			P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	352					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	TCGAGGTGAACGAGAGTGGCA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	77	80			NA	NA	7		NA											NA				100779051		2203	4300	6503	SO:0001819	synonymous_variant			M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366	5054	5054		Serine (or cysteine) peptidase inhibitors	8583	protein-coding gene	gene with protein product	plasminogen activator inhibitor, type I	173360	serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	PLANH1, PAI1	NA	3097076, 2891140, 24172014	Standard	NM_000602	NM_000602	NA	Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000445463.2:c.1011C>T	7.37:g.100779051C>T		NA		37																																																																																				SERPINE1-201	KNOWN	basic|exp_conf	protein_coding	NA	protein_coding			+	ENST00000445463.2	Silent	SNP	7 : 100779051 - 100779051 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	405	59
UBE3B	89910	broad.mit.edu	37	12	109959007	109959007	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109959007C>T	ENST00000342494.3	+	20	2726	c.2131C>T	c.(2131-2133)Cgt>Tgt	p.R711C	UBE3B_ENST00000434735.2_Missense_Mutation_p.R711C	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	711	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GGGGGTCATCCGTGTGAAGTT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	115	119			NA	NA	12		NA											NA				109959007		2203	4300	6503	SO:0001583	missense			BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148	89910	89910			13478	protein-coding gene	gene with protein product		608047			NA		Standard	NM_183415	NM_130466	NA	Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.2131C>T	12.37:g.109959007C>T	ENSP00000340596:p.Arg711Cys	NA	A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	37	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980821	0.74474	.	.	ENSG00000151148	ENST00000434735;ENST00000539599;ENST00000342494;ENST00000539584;ENST00000538070	T;T;T	0.46819	0.86;0.86;0.86	5.93	5.93	0.95920	HECT (3);	0.000000	0.85682	D	0.000000	T	0.73481	0.3592	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77882	-0.2422	10	0.87932	D	0	-7.1982	14.774	0.69703	0.1532:0.8468:0.0:0.0	.	711	Q7Z3V4	UBE3B_HUMAN	C	711;711;711;138;6	ENSP00000391529:R711C;ENSP00000443131:R711C;ENSP00000340596:R711C	ENSP00000340596:R711C	R	+	1	0	UBE3B	108443390	1.000000	0.71417	0.999000	0.59377	0.237000	0.25408	4.473000	0.60196	2.810000	0.96702	0.655000	0.94253	CGT	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403119.1		+	ENST00000342494.3	Missense_Mutation	SNP	12 : 109959007 - 109959007 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	702	158
NEURL4	84461	broad.mit.edu	37	17	7228226	7228226	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7228226G>A	ENST00000399464.2	-	9	1720	c.1705C>T	c.(1705-1707)Cgc>Tgc	p.R569C	NEURL4_ENST00000570460.1_Missense_Mutation_p.R547C|NEURL4_ENST00000315614.7_Missense_Mutation_p.R569C	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4	NA								p.R569C(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTGTCGATGCGCACCTGGAAC	0.577		NA									OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	large_intestine(2)											199	210	206			NA	NA	17		NA											NA				7228226		2180	4275	6455	SO:0001583	missense				CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041	84461	84461			34410	protein-coding gene	gene with protein product		615865	neuralized homolog 4 (Drosophila)		NA	22261722, 22441691	Standard	NM_032442	NM_001005408	NA	Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.1705C>T	17.37:g.7228226G>A	ENSP00000382390:p.Arg569Cys	640		37	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902919	0.92035	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.74209	-0.82;-0.82	5.26	5.26	0.73747	Concanavalin A-like lectin/glucanase (1);NEUZ (3);	0.059752	0.64402	D	0.000002	D	0.88651	0.6494	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.90554	0.4511	10	0.87932	D	0	-18.7945	17.9982	0.89191	0.0:0.0:1.0:0.0	.	569;569	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	C	569	ENSP00000319826:R569C;ENSP00000382390:R569C	ENSP00000319826:R569C	R	-	1	0	NEURL4	7168950	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.700000	0.84556	2.608000	0.88229	0.655000	0.94253	CGC	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255434.2		-	ENST00000399464.2	Missense_Mutation	SNP	17 : 7228226 - 7228226 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	934	177
TRPM3	80036	broad.mit.edu	37	9	73213583	73213583	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:73213583G>T	ENST00000377111.2	-	20	3007	c.2764C>A	c.(2764-2766)Ctg>Atg	p.L922M	TRPM3_ENST00000357533.2_Missense_Mutation_p.L926M|TRPM3_ENST00000358082.3_Missense_Mutation_p.L784M|TRPM3_ENST00000377106.1_Missense_Mutation_p.L794M|TRPM3_ENST00000377110.3_Missense_Mutation_p.L922M|TRPM3_ENST00000396280.5_Missense_Mutation_p.L771M|TRPM3_ENST00000423814.3_Missense_Mutation_p.L949M|TRPM3_ENST00000396292.4_Missense_Mutation_p.L794M|TRPM3_ENST00000408909.2_Missense_Mutation_p.L781M|TRPM3_ENST00000360823.2_Missense_Mutation_p.L784M|TRPM3_ENST00000396285.1_Missense_Mutation_p.L769M|TRPM3_ENST00000377105.1_Missense_Mutation_p.L781M	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	947						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TCTGACATCAGAATCTATAAG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	91	94			NA	NA	9		NA											NA				73213583		2203	4300	6503	SO:0001583	missense			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067	80036	80036		Voltage-gated ion channels / Transient receptor potential cation channels	17992	protein-coding gene	gene with protein product	melastatin 2	608961			NA	16382100	Standard	NM_206945	NM_206946	NA	Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2764C>A	9.37:g.73213583G>T	ENSP00000366315:p.Leu922Met	NA	A2A3F6|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.72|14.72	2.620421|2.620421	0.46736|0.46736	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	T;T;T;T;T;T;T;T;T;T;T|.	0.65178|.	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14|.	5.17|5.17	2.11|2.11	0.27256|0.27256	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.39279|0.39279	0.1072|0.1072	N|N	0.17764|0.17764	0.52|0.52	0.40532|0.40532	D|D	0.980949|0.980949	D;P;D;P;P;P;D;B|.	0.89917|.	0.997;0.896;0.999;0.937;0.605;0.817;1.0;0.02|.	D;P;D;P;P;P;D;B|.	0.91635|.	0.982;0.789;0.999;0.81;0.893;0.802;0.99;0.195|.	T|T	0.11397|0.11397	-1.0589|-1.0589	10|5	0.54805|.	T|.	0.06|.	-12.4354|-12.4354	9.5748|9.5748	0.39450|0.39450	0.4221:0.0:0.5779:0.0|0.4221:0.0:0.5779:0.0	.|.	922;922;912;926;784;781;894;769|.	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.;.|.	M|Y	922;922;794;784;781;926;781;769;794;784;949|770	ENSP00000366315:L922M;ENSP00000366314:L922M;ENSP00000366310:L794M;ENSP00000354066:L784M;ENSP00000366309:L781M;ENSP00000350140:L926M;ENSP00000386127:L781M;ENSP00000379581:L769M;ENSP00000379587:L794M;ENSP00000350791:L784M;ENSP00000389542:L949M|.	ENSP00000350140:L926M|.	L|S	-|-	1|2	2|0	TRPM3|TRPM3	72403403|72403403	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.964000|0.964000	0.63967|0.63967	2.047000|2.047000	0.41269|0.41269	0.595000|0.595000	0.29777|0.29777	-0.213000|-0.213000	0.12676|0.12676	CTG|TCT	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000214157.5		-	ENST00000377111.2	Missense_Mutation	SNP	9 : 73213583 - 73213583 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	503	72
IL18RAP	8807	broad.mit.edu	37	2	103068334	103068334	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103068334T>C	ENST00000409369.1	+	10	1380	c.1067T>C	c.(1066-1068)gTg>gCg	p.V356A	IL18RAP_ENST00000264260.2_Missense_Mutation_p.V498A			O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	498					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CAAGCAGCAGTGAATCTTGCC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	129	129			NA	NA	2		NA											NA				103068334		2203	4300	6503	SO:0001583	missense			AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607	8807	8807		Interleukins and interleukin receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	5989	protein-coding gene	gene with protein product		604509			NA	9792649	Standard	NM_003853	XM_005264034	NA	Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000409369.1:c.1067T>C	2.37:g.103068334T>C	ENSP00000387201:p.Val356Ala	NA	B2RPJ3|Q3KPE7|Q53TT4|Q53TU5	37		.	.	.	.	.	.	.	.	.	.	T	20.3	3.969215	0.74246	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.09445	2.98;2.98	6.02	4.86	0.63082	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.097526	0.44688	N	0.000424	T	0.30947	0.0781	M	0.82056	2.57	0.34843	D	0.740879	D	0.64830	0.994	P	0.62298	0.9	T	0.49986	-0.8880	10	0.62326	D	0.03	.	11.8534	0.52423	0.0:0.0677:0.0:0.9323	.	498	O95256	I18RA_HUMAN	A	498;356	ENSP00000264260:V498A;ENSP00000387201:V356A	ENSP00000264260:V498A	V	+	2	0	IL18RAP	102434766	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	4.227000	0.58612	1.105000	0.41606	0.528000	0.53228	GTG	IL18RAP-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000329495.1		+	ENST00000409369.1	Missense_Mutation	SNP	2 : 103068334 - 103068334 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	605	107
BRCA1	672	broad.mit.edu	37	17	41223162	41223162	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41223162A>G	ENST00000357654.3	-	15	4887	c.4769T>C	c.(4768-4770)gTt>gCt	p.V1590A	BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.V1611A|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.V486A|BRCA1_ENST00000493795.1_Missense_Mutation_p.V1543A|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Missense_Mutation_p.V81A|BRCA1_ENST00000351666.3_Missense_Mutation_p.V407A|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000352993.3_Missense_Mutation_p.V448A|BRCA1_ENST00000309486.4_Missense_Mutation_p.V1294A|BRCA1_ENST00000468300.1_Missense_Mutation_p.V486A	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1590					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TATGTTGCCAACACGAGCTGA	0.488		NA	D, Mis, N, F, S		ovarian	breast, ovarian		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0													134	133	133			NA	NA	17		NA											NA				41223162		2203	4300	6503	SO:0001583	missense	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048	672	672		RING-type (C3HC4) zinc fingers, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	1100	protein-coding gene	gene with protein product	BRCA1/BRCA2-containing complex, subunit 1, protein phosphatase 1, regulatory subunit 53	113705			NA	1676470	Standard	NM_007294	NM_007300	NA	Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.4769T>C	17.37:g.41223162A>G	ENSP00000350283:p.Val1590Ala	NA	O15129|Q3LRJ0|Q7KYU9	37	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	A	9.385	1.073954	0.20147	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000352993;ENST00000351666;ENST00000309486;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919	D;D;D;D;D;D;D;D;D;D	0.91407	-2.46;-2.52;-2.58;-2.36;-2.62;-2.84;-2.58;-2.43;-2.35;-2.58	4.56	2.26	0.28386	.	0.779810	0.11235	N	0.585222	T	0.81173	0.4767	N	0.20986	0.625	0.09310	N	1	B;B;B;B;B;B;B;B	0.29612	0.001;0.103;0.001;0.251;0.001;0.001;0.0;0.003	B;B;B;B;B;B;B;B	0.24269	0.003;0.031;0.003;0.052;0.003;0.003;0.001;0.008	T	0.70200	-0.4937	10	0.54805	T	0.06	.	4.7124	0.12879	0.7079:0.1919:0.1003:0.0	.	486;439;485;487;486;1612;1590;1590	E7EUM2;B4DES0;E7ETR2;P38398-3;Q6IN79;E9PFC7;P38398;P38398-2	.;.;.;.;.;.;BRCA1_HUMAN;.	A	1590;1611;448;407;1294;486;439;1612;1543;485;486;361;440	ENSP00000350283:V1590A;ENSP00000312236:V448A;ENSP00000338007:V407A;ENSP00000310938:V1294A;ENSP00000417148:V486A;ENSP00000377294:V439A;ENSP00000418775:V1543A;ENSP00000420412:V486A;ENSP00000419481:V361A;ENSP00000418819:V440A	ENSP00000310938:V1294A	V	-	2	0	BRCA1	38476688	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.225000	0.17757	0.331000	0.23511	-0.411000	0.06167	GTT	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348798.2		-	ENST00000357654.3	Missense_Mutation	SNP	17 : 41223162 - 41223162 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	829	134
KCND1	3750	broad.mit.edu	37	X	48823034	48823034	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48823034G>A	ENST00000218176.3	-	4	2715	c.1418C>T	c.(1417-1419)gCc>gTc	p.A473V	KCND1_ENST00000376477.1_Missense_Mutation_p.A96V	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	473						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						CTGTTCAAAGGCAGAACGGTT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	92	103			NA	NA	X		NA											NA				48823034		2203	4300	6503	SO:0001583	missense			AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057	3750	3750		Potassium channels, Voltage-gated ion channels / Potassium channels	6237	protein-coding gene	gene with protein product		300281			NA	10729221, 16382104	Standard	NM_004979	NM_004979	NA	Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.1418C>T	X.37:g.48823034G>A	ENSP00000218176:p.Ala473Val	NA	B2RCG0|O75671	37	CCDS14314.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017964	0.35606	.	.	ENSG00000102057	ENST00000376477;ENST00000218176	D;D	0.82433	-1.61;-1.61	5.66	5.66	0.87406	Potassium channel, voltage dependent, Kv4, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79505	0.4457	L	0.51422	1.61	0.58432	D	0.999999	B	0.32467	0.372	B	0.32090	0.14	T	0.76069	-0.3094	10	0.22109	T	0.4	.	17.4122	0.87489	0.0:0.0:1.0:0.0	.	473	Q9NSA2	KCND1_HUMAN	V	96;473	ENSP00000365660:A96V;ENSP00000218176:A473V	ENSP00000218176:A473V	A	-	2	0	KCND1	48707978	0.998000	0.40836	0.986000	0.45419	0.413000	0.31143	8.771000	0.91751	2.381000	0.81170	0.523000	0.50628	GCC	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060774.1		-	ENST00000218176.3	Missense_Mutation	SNP	X : 48823034 - 48823034 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	92	7
PAM	5066	broad.mit.edu	37	5	102295657	102295657	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:102295657C>A	ENST00000438793.3	+	12	1454	c.984C>A	c.(982-984)acC>acA	p.T328T	PAM_ENST00000274392.9_Silent_p.T231T|PAM_ENST00000348126.2_Silent_p.T328T|PAM_ENST00000346918.2_Silent_p.T328T|PAM_ENST00000304400.7_Silent_p.T328T|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000455264.2_Silent_p.T328T	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	328	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	CTTTCATGACCTGTACCCAGA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	137	142			NA	NA	5		NA											NA				102295657		2203	4300	6503	SO:0001819	synonymous_variant			AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	5066	5066	1.14.17.3		8596	protein-coding gene	gene with protein product	peptidyl-alpha-hydroxyglycine alpha-amidating lyase, peptidylglycine alpha-hydroxylating monooxygenase	170270			NA	2357221	Standard	NM_000919	NM_000919	NA	Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.984C>A	5.37:g.102295657C>A		NA	A6NMR0|A8K293|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	37	CCDS54885.1	.	.	.	.	.	.	.	.	.	.	C	9.657	1.143010	0.21205	.	.	ENSG00000145730	ENST00000379799	.	.	.	5.58	2.75	0.32379	.	.	.	.	.	T	0.46229	0.1382	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33394	-0.9870	4	.	.	.	.	3.1965	0.06635	0.1252:0.5677:0.1214:0.1858	.	.	.	.	M	101	.	.	L	+	1	2	PAM	102323556	0.969000	0.33509	1.000000	0.80357	0.993000	0.82548	0.210000	0.17455	0.733000	0.32492	0.460000	0.39030	CTG	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250640.2		+	ENST00000438793.3	Silent	SNP	5 : 102295657 - 102295657 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	519	97
GK	2710	broad.mit.edu	37	X	30686168	30686168	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:30686168C>T	ENST00000378941.3	+	3	192	c.192C>T	c.(190-192)gtC>gtT	p.V64V	GK_ENST00000427190.1_5'UTR|GK_ENST00000378943.3_Silent_p.V64V|GK_ENST00000378945.3_Silent_p.V64V|GK_ENST00000378946.3_Silent_p.V64V			P32189	GLPK_HUMAN	glycerol kinase	64					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						TACATTCTGTCTATGAGTGTA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	59	62			NA	NA	X		NA											NA				30686168		2202	4293	6495	SO:0001819	synonymous_variant			X78711	CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1	Xp21.3	2014-09-17			ENSG00000198814	ENSG00000198814	2710	2710	2.7.1.30	Glycerol kinases	4289	protein-coding gene	gene with protein product		300474			NA	7987308	Standard	NM_000167	NM_203391	NA	Approved	GK1, GKD	uc022buj.1	P32189	OTTHUMG00000021328	ENST00000378941.3:c.192C>T	X.37:g.30686168C>T		NA	B2R833|Q8IVR5|Q9UMP0|Q9UMP1	37																																																																																				GK-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000056171.1		+	ENST00000378941.3	Silent	SNP	X : 30686168 - 30686168 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	185	47
WDR83	84292	broad.mit.edu	37	19	12784068	12784068	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12784068C>T	ENST00000418543.3	+	10	1085	c.736C>T	c.(736-738)Cgt>Tgt	p.R246C	WDR83_ENST00000242796.4_Missense_Mutation_p.R246C	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	246					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm		p.R246C(1)		breast(2)|large_intestine(1)|lung(1)	4						CCTGAGCGAGCGTGACACACA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											157	145	149			NA	NA	19		NA											NA				12784068		2203	4300	6503	SO:0001583	missense			AK074525	CCDS12275.1	19p13.13	2013-01-09			ENSG00000123154	ENSG00000123154	84292	84292		WD repeat domain containing	32672	protein-coding gene	gene with protein product	MAPK organizer 1				NA	15118098, 16407229	Standard	NM_032332	NM_032332	NA	Approved	MORG1	uc010dyw.3	Q9BRX9	OTTHUMG00000169356	ENST00000418543.3:c.736C>T	19.37:g.12784068C>T	ENSP00000402653:p.Arg246Cys	NA	B2RAF1|Q53FT6	37	CCDS12275.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.866536	0.72065	.	.	ENSG00000123154	ENST00000418543;ENST00000242796	T;T	0.81247	-1.47;-1.47	5.43	5.43	0.79202	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.174525	0.50627	D	0.000101	T	0.78175	0.4242	N	0.25825	0.765	0.49299	D	0.999771	D	0.63046	0.992	P	0.54174	0.744	T	0.79776	-0.1661	10	0.59425	D	0.04	.	11.6736	0.51417	0.2845:0.7154:0.0:0.0	.	246	Q9BRX9	WDR83_HUMAN	C	246	ENSP00000402653:R246C;ENSP00000242796:R246C	ENSP00000242796:R246C	R	+	1	0	WDR83	12645068	1.000000	0.71417	0.984000	0.44739	0.564000	0.35744	4.499000	0.60380	2.549000	0.85964	0.561000	0.74099	CGT	WDR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403648.1		+	ENST00000418543.3	Missense_Mutation	SNP	19 : 12784068 - 12784068 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	472	79
CUL5	8065	broad.mit.edu	37	11	107923465	107923465	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:107923465C>T	ENST00000393094.2	+	5	1106	c.490C>T	c.(490-492)Cat>Tat	p.H164Y		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	164					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		GAAGCTGGTACATGCTGAGAG	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	111	112			NA	NA	11		NA											NA				107923465		2201	4298	6499	SO:0001583	missense			X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266	8065	8065			2556	protein-coding gene	gene with protein product		601741			NA	8681378, 9037604	Standard		XM_005271682	NA	Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.490C>T	11.37:g.107923465C>T	ENSP00000376808:p.His164Tyr	NA	A8K960|O14766|Q9BZC6	37	CCDS31668.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.57|16.57	3.159761|3.159761	0.57368|0.57368	.|.	.|.	ENSG00000166266|ENSG00000166266	ENST00000393094|ENST00000532782	T|.	0.30448|.	1.53|.	5.62|5.62	5.62|5.62	0.85841|0.85841	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74465|0.74465	0.3720|0.3720	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	B|.	0.10296|.	0.003|.	B|.	0.06405|.	0.002|.	T|T	0.71474|0.71474	-0.4582|-0.4582	10|5	0.59425|.	D|.	0.04|.	-15.6841|-15.6841	19.6572|19.6572	0.95847|0.95847	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	164|.	Q93034|.	CUL5_HUMAN|.	Y|I	164|60	ENSP00000376808:H164Y|.	ENSP00000376808:H164Y|.	H|T	+|+	1|2	0|0	CUL5|CUL5	107428675|107428675	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	7.786000|7.786000	0.85741|0.85741	2.651000|2.651000	0.90000|0.90000	0.549000|0.549000	0.68633|0.68633	CAT|ACA	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389429.1		+	ENST00000393094.2	Missense_Mutation	SNP	11 : 107923465 - 107923465 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	185	25
NPAT	4863	broad.mit.edu	37	11	108044536	108044536	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108044536T>C	ENST00000278612.8	-	13	1280	c.1175A>G	c.(1174-1176)aAt>aGt	p.N392S	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	392					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGGGTCATCATTCTGATAGGA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	98	101			NA	NA	11		NA											NA				108044536		1881	4101	5982	SO:0001583	missense			X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308	4863	4863			7896	protein-coding gene	gene with protein product		601448			NA	9205109	Standard	NM_002519	NM_002519	NA	Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.1175A>G	11.37:g.108044536T>C	ENSP00000278612:p.Asn392Ser	NA	A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	37	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.698758	0.00725	.	.	ENSG00000149308	ENST00000278612	T	0.03951	3.75	5.67	1.76	0.24704	.	0.510538	0.20492	N	0.091278	T	0.02767	0.0083	L	0.36672	1.1	0.24006	N	0.99619	B;B	0.14438	0.01;0.01	B;B	0.10450	0.005;0.005	T	0.45279	-0.9272	10	0.06365	T	0.9	-14.1273	0.9102	0.01293	0.1478:0.1741:0.1959:0.4822	.	392;392	B9EG70;Q14207	.;NPAT_HUMAN	S	392	ENSP00000278612:N392S	ENSP00000278612:N392S	N	-	2	0	NPAT	107549746	1.000000	0.71417	0.985000	0.45067	0.020000	0.10135	0.889000	0.28282	0.517000	0.28361	0.528000	0.53228	AAT	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389506.2		-	ENST00000278612.8	Missense_Mutation	SNP	11 : 108044536 - 108044536 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	48
ARID1A	8289	broad.mit.edu	37	1	27101019	27101019	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27101019C>T	ENST00000457599.2	+	18	4101				ARID1A_ENST00000324856.7_Missense_Mutation_p.A1434V|ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Missense_Mutation_p.A1051V	NM_139135.2	NP_624361.1	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	NA					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TATGGCAATGCCTATCCTGCC	0.617		NA	Mis, N, F, S, D		clear cell ovarian carcinoma, RCC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													67	68	68			NA	NA	1		NA											NA				27101019		2203	4300	6503	SO:0001627	intron_variant			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713	8289	8289		-	11110	protein-coding gene	gene with protein product		603024	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1, AT rich interactive domain 1A (SWI- like)	C1orf4, SMARCF1	NA	9630625, 9434167	Standard	NM_139135	NM_139135	NA	Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000457599.2:c.4102-452C>T	1.37:g.27101019C>T		NA	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	37	CCDS44091.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372725	0.61624	.	.	ENSG00000117713	ENST00000324856;ENST00000374152	T;T	0.02863	4.29;4.13	5.54	5.54	0.83059	.	0.194762	0.38605	N	0.001636	T	0.02455	0.0075	N	0.14661	0.345	0.80722	D	1	P;P;B	0.48764	0.822;0.915;0.278	B;B;B	0.35039	0.194;0.164;0.057	T	0.61352	-0.7080	10	0.56958	D	0.05	-4.606	19.6787	0.95950	0.0:1.0:0.0:0.0	.	1051;1434;1087	O14497-3;O14497;Q4LE49	.;ARI1A_HUMAN;.	V	1434;1051	ENSP00000320485:A1434V;ENSP00000363267:A1051V	ENSP00000320485:A1434V	A	+	2	0	ARID1A	26973606	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	5.460000	0.66691	2.890000	0.99128	0.650000	0.86243	GCC	ARID1A-002	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000011438.2		+	ENST00000457599.2	Intron	SNP	1 : 27101019 - 27101019 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	110
ZNF443	10224	broad.mit.edu	37	19	12541219	12541219	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12541219T>C	ENST00000301547.5	-	4	1964	c.1767A>G	c.(1765-1767)gaA>gaG	p.E589E	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	589					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						ATTGTGGACATTCATAGGATT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	123	123			NA	NA	19		NA											NA				12541219		2203	4300	6503	SO:0001819	synonymous_variant			AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855	10224	10224		Zinc fingers, C2H2-type, -	20878	protein-coding gene	gene with protein product		606697			NA	9731181	Standard	NM_005815	NM_005815	NA	Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.1767A>G	19.37:g.12541219T>C		NA		37	CCDS32918.1																																																																																			ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344084.1		-	ENST00000301547.5	Silent	SNP	19 : 12541219 - 12541219 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	592	115
SP4	6671	broad.mit.edu	37	7	21521598	21521598	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21521598G>A	ENST00000222584.3	+	5	2182	c.1964G>A	c.(1963-1965)gGt>gAt	p.G655D		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	655					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GAAGGATGTGGTAAAGTTTAT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	144	145			NA	NA	7		NA											NA				21521598		2203	4300	6503	SO:0001583	missense				CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866	6671	6671		Specificity protein transcription factors, Zinc fingers, C2H2-type	11209	protein-coding gene	gene with protein product		600540			NA	1454515	Standard	NM_003112	XM_005249828	NA	Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.1964G>A	7.37:g.21521598G>A	ENSP00000222584:p.Gly655Asp	NA	O60402|Q32M52	37	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	G	34	5.316989	0.95682	.	.	ENSG00000105866	ENST00000222584	T	0.49139	0.79	5.47	5.47	0.80525	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.69540	0.3122	M	0.81341	2.54	0.80722	D	1	D	0.61697	0.99	P	0.61070	0.883	T	0.73707	-0.3898	10	0.72032	D	0.01	.	19.3343	0.94309	0.0:0.0:1.0:0.0	.	655	Q02446	SP4_HUMAN	D	655	ENSP00000222584:G655D	ENSP00000222584:G655D	G	+	2	0	SP4	21488123	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.567000	0.86603	0.591000	0.81541	GGT	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000211617.2		+	ENST00000222584.3	Missense_Mutation	SNP	7 : 21521598 - 21521598 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	651	111
CNDP2	55748	broad.mit.edu	37	18	72187265	72187265	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72187265G>A	ENST00000324262.4	+	12	1706	c.1390G>A	c.(1390-1392)Gcc>Acc	p.A464T	CNDP2_ENST00000324301.8_Missense_Mutation_p.A380T|CNDP2_ENST00000579847.1_Missense_Mutation_p.A464T	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	464						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CAAGATGCTGGCCGCGTACCT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	94	102			NA	NA	18		NA											NA				72187265		2203	4300	6503	SO:0001583	missense			AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	55748	55748	3.4.13.18		24437	protein-coding gene	gene with protein product	cytosolic nonspecific dipeptidase	169800	peptidase A	PEPA	NA	12473676	Standard	NM_018235	NM_018235	NA	Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.1390G>A	18.37:g.72187265G>A	ENSP00000325548:p.Ala464Thr	NA	B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	37	CCDS12006.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.722165	0.68959	.	.	ENSG00000133313	ENST00000324262;ENST00000324301	T;T	0.09723	2.95;2.95	5.44	4.56	0.56223	.	0.147326	0.64402	D	0.000010	T	0.20047	0.0482	M	0.78801	2.425	0.38235	D	0.941156	P;P	0.38195	0.513;0.622	B;B	0.43251	0.291;0.413	T	0.02942	-1.1091	10	0.72032	D	0.01	-9.0077	11.9072	0.52719	0.0801:0.0:0.9199:0.0	.	380;464	Q96KP4-2;Q96KP4	.;CNDP2_HUMAN	T	464;380	ENSP00000325548:A464T;ENSP00000325756:A380T	ENSP00000325548:A464T	A	+	1	0	CNDP2	70338245	1.000000	0.71417	0.972000	0.41901	0.323000	0.28346	5.178000	0.65037	2.548000	0.85928	0.650000	0.86243	GCC	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256327.1		+	ENST00000324262.4	Missense_Mutation	SNP	18 : 72187265 - 72187265 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	210	34
ARHGAP39	80728	broad.mit.edu	37	8	145770921	145770921	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145770921C>T	ENST00000276826.5	-	5	2434	c.2233G>A	c.(2233-2235)Gag>Aag	p.E745K	ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E745K|ARHGAP39_ENST00000528810.1_5'UTR|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E745K			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	745	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TTGAAGAGCTCGCAGGCCTCC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	65	68			NA	NA	8		NA											NA				145770921		2203	4300	6503	SO:0001583	missense				CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799	80728	80728		Rho GTPase activating proteins	29351	protein-coding gene	gene with protein product	RhoGAP93B homolog (Drosophila), crossGAP homolog (Drosophila)	615880			NA	15755809	Standard		XM_005272344	NA	Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.2233G>A	8.37:g.145770921C>T	ENSP00000276826:p.Glu745Lys	NA	B4E1I1	37		.	.	.	.	.	.	.	.	.	.	C	27.8	4.860027	0.91433	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.69685	-0.42;-0.16;-0.42	4.92	4.92	0.64577	MyTH4 domain (1);	0.056351	0.64402	D	0.000002	T	0.74824	0.3767	L	0.49778	1.585	0.80722	D	1	D;D	0.76494	0.981;0.999	P;P	0.60173	0.532;0.87	T	0.76945	-0.2771	10	0.59425	D	0.04	-9.4975	15.9706	0.80013	0.0:1.0:0.0:0.0	.	745;745	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	K	745	ENSP00000276826:E745K;ENSP00000366522:E745K;ENSP00000445075:E745K	ENSP00000276826:E745K	E	-	1	0	ARHGAP39	145741729	1.000000	0.71417	0.978000	0.43139	0.967000	0.64934	7.663000	0.83820	2.427000	0.82271	0.650000	0.86243	GAG	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000382509.1		-	ENST00000276826.5	Missense_Mutation	SNP	8 : 145770921 - 145770921 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	299	30
FAM91A1	157769	broad.mit.edu	37	8	124792281	124792281	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124792281A>C	ENST00000334705.7	+	7	852	c.606A>C	c.(604-606)caA>caC	p.Q202H	FAM91A1_ENST00000521166.1_Missense_Mutation_p.Q202H	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	202										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			CAGGCCCTCAACTCTCTGGAT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	109	112			NA	NA	8		NA											NA				124792281		1864	4106	5970	SO:0001583	missense			AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853	157769	157769			26306	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_144963	XM_005250806	NA	Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.606A>C	8.37:g.124792281A>C	ENSP00000335082:p.Gln202His	NA	Q658T5|Q8TE89	37	CCDS6346.2	.	.	.	.	.	.	.	.	.	.	A	22.3	4.265700	0.80358	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	T;T	0.47869	0.83;1.41	5.51	-7.82	0.01205	.	0.000000	0.85682	U	0.000000	T	0.62122	0.2402	M	0.74647	2.275	0.58432	D	0.999998	D;D	0.64830	0.994;0.994	D;D	0.78314	0.991;0.991	T	0.74250	-0.3726	10	0.59425	D	0.04	.	17.649	0.88157	0.6315:0.0:0.3685:0.0	.	202;202	E7ER68;Q658Y4	.;F91A1_HUMAN	H	202	ENSP00000429491:Q202H;ENSP00000335082:Q202H	ENSP00000335082:Q202H	Q	+	3	2	FAM91A1	124861462	0.993000	0.37304	0.698000	0.30274	0.994000	0.84299	0.228000	0.17814	-1.609000	0.01585	-0.396000	0.06452	CAA	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256607.1		+	ENST00000334705.7	Missense_Mutation	SNP	8 : 124792281 - 124792281 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	369	74
PCDHGA9	56107	broad.mit.edu	37	5	140783390	140783390	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140783390C>A	ENST00000573521.1	+	1	871	c.871C>A	c.(871-873)Cta>Ata	p.L291I	PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1			protocadherin gamma subfamily A, 9	NA										endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAATCTCTGCTATTCCAGCT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	90	89			NA	NA	5		NA											NA				140783390		1829	4091	5920	SO:0001583	missense			AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26					56107	56107		Cadherins / Protocadherins : Clustered	8707	other	protocadherin		606296			NA	10380929	Standard	NM_018921	NM_018921	NA	Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.871C>A	5.37:g.140783390C>A	ENSP00000460274:p.Leu291Ile	NA		37	CCDS58981.1																																																																																			PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437105.1		+	ENST00000573521.1	Missense_Mutation	SNP	5 : 140783390 - 140783390 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	648	107
MUC16	94025	broad.mit.edu	37	19	9066782	9066782	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9066782C>T	ENST00000397910.4	-	3	20867	c.20664G>A	c.(20662-20664)gcG>gcA	p.A6888A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6890	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						CCACATTAGTCGCTGCTGTGC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													240	228	232			NA	NA	19		NA											NA				9066782		2122	4247	6369	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.20664G>A	19.37:g.9066782C>T		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 : 9066782 - 9066782 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1058	176
SHROOM1	134549	broad.mit.edu	37	5	132160428	132160428	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:132160428C>A	ENST00000378679.3	-	6	1924	c.1120G>T	c.(1120-1122)Gag>Tag	p.E374*	SHROOM1_ENST00000378676.1_Intron|SHROOM1_ENST00000319854.3_Nonsense_Mutation_p.E374*	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	374					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGCAGGTCTCTGAGACCCTC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	80	78			NA	NA	5		NA											NA				132160428		2203	4300	6503	SO:0001587	stop_gained			AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403	134549	134549			24084	protein-coding gene	gene with protein product		611179			NA	11853319, 16615870	Standard	NM_133456	NM_133456	NA	Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.1120G>T	5.37:g.132160428C>A	ENSP00000367950:p.Glu374*	NA	B7WP40|B7ZL01|Q8TDP0|Q8TF41	37	CCDS54902.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010848	0.93346	.	.	ENSG00000164403	ENST00000378679;ENST00000319854	.	.	.	3.49	2.58	0.30949	.	1.873330	0.02512	N	0.091585	.	.	.	.	.	.	0.29218	N	0.874146	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-6.639	6.0514	0.19787	0.0:0.8501:0.0:0.1499	.	.	.	.	X	374	.	ENSP00000324245:E374X	E	-	1	0	SHROOM1	132188327	0.001000	0.12720	0.297000	0.24988	0.651000	0.38670	0.293000	0.19029	0.986000	0.38683	0.561000	0.74099	GAG	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000133033.1		-	ENST00000378679.3	Nonsense_Mutation	SNP	5 : 132160428 - 132160428 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	527	24
SYNE1	23345	broad.mit.edu	37	6	152697632	152697632	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152697632G>A	ENST00000367255.5	-	58	9809	c.9208C>T	c.(9208-9210)Cga>Tga	p.R3070*	SYNE1_ENST00000423061.1_Nonsense_Mutation_p.R3077*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.R3109*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.R3077*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.R3070*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3070					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAGGCCTTTCGAAATCTTTGC	0.388		NA								HNSCC(10;0.0054)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	79	78			NA	NA	6		NA											NA				152697632		2203	4300	6503	SO:0001587	stop_gained			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018	23345	23345			17089	protein-coding gene	gene with protein product	myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1	608441	chromosome 6 open reading frame 98	C6orf98	NA	9872452, 10878022	Standard	NM_182961	NM_182961	NA	Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.9208C>T	6.37:g.152697632G>A	ENSP00000356224:p.Arg3070*	NA	O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711637	0.89112	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	.	.	.	5.71	3.87	0.44632	.	0.696895	0.13021	N	0.420059	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	14.2997	0.66339	0.0:0.0:0.6123:0.3877	.	.	.	.	X	3070;3077;3070;3077;3109	.	ENSP00000265368:R3070X	R	-	1	2	SYNE1	152739325	1.000000	0.71417	0.880000	0.34516	0.904000	0.53231	4.425000	0.59875	0.714000	0.32081	0.655000	0.94253	CGA	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334755.2		-	ENST00000367255.5	Nonsense_Mutation	SNP	6 : 152697632 - 152697632 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	309	51
SH2D3C	10044	broad.mit.edu	37	9	130511771	130511771	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130511771C>T	ENST00000314830.8	-	5	971	c.858G>A	c.(856-858)gaG>gaA	p.E286E	SH2D3C_ENST00000373276.3_Silent_p.E218E|SH2D3C_ENST00000420366.1_Silent_p.E128E|SH2D3C_ENST00000429553.1_5'UTR|SH2D3C_ENST00000373277.4_Silent_p.E129E|SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000373274.3_Silent_p.E126E	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	286	SH2.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGCTCTCCTGCTCAAACAGGT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	88	93			NA	NA	9		NA											NA				130511771		2203	4300	6503	SO:0001819	synonymous_variant			AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370	10044	10044		SH2 domain containing	16884	protein-coding gene	gene with protein product		604722	SH2 domain-containing 3C		NA	10187783	Standard	NM_005489	NM_170600	NA	Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.858G>A	9.37:g.130511771C>T		NA	Q5HYE5|Q6UY42|Q8N6X3|Q9Y2X5	37	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	C	9.272	1.045880	0.19748	.	.	ENSG00000095370	ENST00000440630	.	.	.	5.67	4.58	0.56647	.	.	.	.	.	T	0.69628	0.3132	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67624	-0.5623	4	.	.	.	-0.3882	14.6077	0.68493	0.0:0.9177:0.0:0.0823	.	.	.	.	N	123	.	.	S	-	2	0	SH2D3C	129551592	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.952000	0.49097	2.686000	0.91538	0.561000	0.74099	AGC	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054264.1		-	ENST00000314830.8	Silent	SNP	9 : 130511771 - 130511771 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	207	37
ZCCHC4	29063	broad.mit.edu	37	4	25363599	25363599	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25363599A>G	ENST00000302874.4	+	9	1154	c.1130A>G	c.(1129-1131)tAc>tGc	p.Y377C		NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	377							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				GAAGAAGGGTACAGGTAAGAT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	50	52			NA	NA	4		NA											NA				25363599		1863	4104	5967	SO:0001583	missense			AF161537	CCDS43218.1	4p15.31	2014-02-18			ENSG00000168228	ENSG00000168228	29063	29063		Zinc fingers, CCHC domain containing	22917	protein-coding gene	gene with protein product	zinc finger, GRF-type containing 4	611792			NA	11042152	Standard		NM_024936	NA	Approved	HSPC052, FLJ23024, ZGRF4	uc003grl.4	Q9H5U6	OTTHUMG00000160563	ENST00000302874.4:c.1130A>G	4.37:g.25363599A>G	ENSP00000303468:p.Tyr377Cys	NA	B2RXF6|Q5IW78|Q96AN7	37	CCDS43218.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.210568	0.79240	.	.	ENSG00000168228	ENST00000302874	T	0.36520	1.25	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.62332	0.2419	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.67612	-0.5626	10	0.87932	D	0	-9.4566	15.0981	0.72250	1.0:0.0:0.0:0.0	.	377	Q9H5U6	ZCHC4_HUMAN	C	377	ENSP00000303468:Y377C	ENSP00000303468:Y377C	Y	+	2	0	ZCCHC4	24972697	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.582000	0.82546	2.266000	0.75297	0.533000	0.62120	TAC	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361151.1		+	ENST00000302874.4	Missense_Mutation	SNP	4 : 25363599 - 25363599 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	163	9
NOTCH1	4851	broad.mit.edu	37	9	139397682	139397682	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139397682C>T	ENST00000277541.6	-	27	5194	c.5119G>A	c.(5119-5121)Gcc>Acc	p.A1707T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1707					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCCAGCGAGGCGAGCGCTCCC	0.642		NA	T, Mis, O	TRB@	T-ALL					HNSCC(8;0.001)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		9	9q34.3	4851	Notch homolog 1, translocation-associated (Drosophila) (TAN1)		L	0													47	58	54			NA	NA	9		NA											NA				139397682		2122	4243	6365	SO:0001583	missense			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400	4851	4851		Ankyrin repeat domain containing	7881	protein-coding gene	gene with protein product		190198	Notch (Drosophila) homolog 1 (translocation-associated), Notch homolog 1, translocation-associated (Drosophila)	TAN1	NA	1831692	Standard	NM_017617	NM_017617	NA	Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5119G>A	9.37:g.139397682C>T	ENSP00000277541:p.Ala1707Thr	NA	Q59ED8|Q5SXM3	37	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	33	5.238152	0.95240	.	.	ENSG00000148400	ENST00000277541	T	0.37058	1.22	4.81	4.81	0.61882	Notch, NODP domain (1);	0.000000	0.85682	D	0.000000	T	0.61961	0.2389	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.66356	-0.5944	10	0.52906	T	0.07	.	17.2014	0.86907	0.0:1.0:0.0:0.0	.	1707	P46531	NOTC1_HUMAN	T	1707	ENSP00000277541:A1707T	ENSP00000277541:A1707T	A	-	1	0	NOTCH1	138517503	1.000000	0.71417	0.959000	0.39883	0.568000	0.35870	5.777000	0.68931	2.376000	0.81061	0.561000	0.74099	GCC	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055087.1		-	ENST00000277541.6	Missense_Mutation	SNP	9 : 139397682 - 139397682 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	250	45
UGT3A1	133688	broad.mit.edu	37	5	35965947	35965947	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35965947C>A	ENST00000507113.1	-	3	474	c.282G>T	c.(280-282)aaG>aaT	p.K94N	UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000333811.4_Missense_Mutation_p.K74N|UGT3A1_ENST00000503189.1_Missense_Mutation_p.K128N|UGT3A1_ENST00000274278.3_Missense_Mutation_p.K128N			Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	128						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCATTATATCCTTTCTGCTTA	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	43	43			NA	NA	5		NA											NA				35965947		2203	4300	6503	SO:0001583	missense				CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626	133688	133688		UDP glucuronosyltransferases	26625	protein-coding gene	gene with protein product					NA		Standard	NM_152404	NM_152404	NA	Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000507113.1:c.282G>T	5.37:g.35965947C>A	ENSP00000426100:p.Lys94Asn	NA	Q8NAW4|Q96DM6	37		.	.	.	.	.	.	.	.	.	.	C	11.85	1.762943	0.31228	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113;ENST00000333811	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	3.0	0.921	0.19403	.	1.432420	0.04533	N	0.386617	T	0.55721	0.1938	L	0.52759	1.655	0.09310	N	1	B;B;B;B	0.17038	0.007;0.02;0.004;0.011	B;B;B;B	0.23716	0.015;0.048;0.007;0.033	T	0.44050	-0.9353	10	0.59425	D	0.04	.	3.3871	0.07276	0.4313:0.3496:0.0:0.2191	.	94;128;74;128	E9PD17;B7Z8Q8;G5E961;Q6NUS8	.;.;.;UD3A1_HUMAN	N	128;128;94;74	ENSP00000274278:K128N;ENSP00000427079:K128N;ENSP00000426100:K94N;ENSP00000328033:K74N	ENSP00000274278:K128N	K	-	3	2	UGT3A1	36001704	0.000000	0.05858	0.005000	0.12908	0.737000	0.42083	-0.697000	0.05098	0.029000	0.15352	0.313000	0.20887	AAG	UGT3A1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000367193.2		-	ENST00000507113.1	Missense_Mutation	SNP	5 : 35965947 - 35965947 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	44
ARHGEF12	23365	broad.mit.edu	37	11	120347416	120347416	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120347416G>T	ENST00000397843.2	+	34	3490	c.3324G>T	c.(3322-3324)caG>caT	p.Q1108H	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.Q1005H|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.Q1089H	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1108	PH.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ATGGCGCTCAGATTTATGAAC	0.383		NA	T	MLL	AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0													123	117	119			NA	NA	11		NA											NA				120347416		1863	4114	5977	SO:0001583	missense			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914	23365	23365		Rho guanine nucleotide exchange factors	14193	protein-coding gene	gene with protein product		604763			NA	10681437, 9205841	Standard	NM_015313	NM_001198665	NA	Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3324G>T	11.37:g.120347416G>T	ENSP00000380942:p.Gln1108His	NA	O15086|Q6P526	37	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279255	0.40294	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.46063	0.88;0.88;0.88	5.1	-1.08	0.09936	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.38217	U	0.001761	T	0.29817	0.0745	L	0.55017	1.72	0.58432	D	0.999998	B;B;B	0.30973	0.302;0.094;0.057	B;B;B	0.28385	0.089;0.044;0.02	T	0.03641	-1.1017	10	0.52906	T	0.07	-12.5972	4.5858	0.12282	0.2541:0.1396:0.4849:0.1215	.	1005;1089;1108	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	H	1108;1089;1005	ENSP00000380942:Q1108H;ENSP00000349056:Q1089H;ENSP00000432984:Q1005H	ENSP00000349056:Q1089H	Q	+	3	2	ARHGEF12	119852626	0.900000	0.30661	0.997000	0.53966	0.971000	0.66376	-0.026000	0.12392	-0.153000	0.11137	-0.471000	0.05019	CAG	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388052.1		+	ENST00000397843.2	Missense_Mutation	SNP	11 : 120347416 - 120347416 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	426	79
MEGF8	1954	broad.mit.edu	37	19	42837896	42837896	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42837896G>A	ENST00000334370.4	+	2	962	c.327G>A	c.(325-327)ccG>ccA	p.P109P	MEGF8_ENST00000251268.6_Silent_p.P109P	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	109	CUB 1.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCCGACCTCCGCCCATCGAAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	56	55			NA	NA	19		NA											NA				42837896		2077	4211	6288	SO:0001819	synonymous_variant			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429	1954	1954			3233	protein-coding gene	gene with protein product	HBV pre s2 binding protein 1	604267	EGF-like-domain, multiple 4, chromosome 19 open reading frame 49	EGFL4, C19orf49	NA	9693030	Standard	NM_001410	NM_001410	NA	Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000334370.4:c.327G>A	19.37:g.42837896G>A		NA	A8KAY0|O75097	37	CCDS12604.2																																																																																			MEGF8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317695.1		+	ENST00000334370.4	Silent	SNP	19 : 42837896 - 42837896 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	342	56
ZNF311	282890	broad.mit.edu	37	6	28967386	28967386	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28967386G>A	ENST00000377179.3	-	5	700	c.188C>T	c.(187-189)tCa>tTa	p.S63L	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	63					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						AAATGTCACTGACTCCTGAAA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	84	96			NA	NA	6		NA											NA				28967386		1511	2709	4220	SO:0001583	missense			AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935	282890	282890		Zinc fingers, C2H2-type, -	13847	protein-coding gene	gene with protein product					NA		Standard	XM_212581	XM_006715067	NA	Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.188C>T	6.37:g.28967386G>A	ENSP00000366384:p.Ser63Leu	NA	A2BFK5|Q92971	37	CCDS34357.1	.	.	.	.	.	.	.	.	.	.	G	9.221	1.033476	0.19590	.	.	ENSG00000197935	ENST00000377179	T	0.00737	5.76	3.48	-0.559	0.11792	Krueppel-associated box (1);	.	.	.	.	T	0.00144	0.0004	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.27673	-1.0067	9	0.15952	T	0.53	0.0796	0.4756	0.00539	0.3388:0.1782:0.3009:0.1821	.	63	Q5JNZ3	ZN311_HUMAN	L	63	ENSP00000366384:S63L	ENSP00000366384:S63L	S	-	2	0	ZNF311	29075365	0.000000	0.05858	0.000000	0.03702	0.258000	0.26162	0.429000	0.21412	-0.041000	0.13558	0.585000	0.79938	TCA	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076631.3		-	ENST00000377179.3	Missense_Mutation	SNP	6 : 28967386 - 28967386 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	51
C17orf102	400591	broad.mit.edu	37	17	32906007	32906007	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32906007C>T	ENST00000357754.1	-	1	381	c.293G>A	c.(292-294)gGg>gAg	p.G98E		NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN	chromosome 17 open reading frame 102	98			G -> R (in dbSNP:rs58529418).							central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						CCCAGAGCCCCCGCGGCCCGA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	52	50			NA	NA	17		NA											NA				32906007		1864	4091	5955	SO:0001583	missense				CCDS42297.1	17q12	2009-02-11			ENSG00000197322	ENSG00000197322	400591	400591			34412	protein-coding gene	gene with protein product					NA		Standard	NM_207454	NM_207454	NA	Approved	FLJ44815	uc002hie.1	A2RUQ5	OTTHUMG00000156883	ENST00000357754.1:c.293G>A	17.37:g.32906007C>T	ENSP00000350392:p.Gly98Glu	NA	A5PKX0|Q6ZTB3	37	CCDS42297.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.744526	0.30865	.	.	ENSG00000197322	ENST00000357754	T	0.46063	0.88	3.33	2.3	0.28687	.	1.147840	0.06879	U	0.802091	T	0.45796	0.1360	N	0.19112	0.55	0.09310	N	1	D	0.61697	0.99	P	0.61592	0.891	T	0.40572	-0.9556	10	0.87932	D	0	.	8.3172	0.32108	0.0:0.755:0.2449:0.0	.	98	A2RUQ5	CQ102_HUMAN	E	98	ENSP00000350392:G98E	ENSP00000350392:G98E	G	-	2	0	C17orf102	29930120	0.020000	0.18652	0.000000	0.03702	0.019000	0.09904	0.831000	0.27476	0.663000	0.31027	0.655000	0.94253	GGG	C17orf102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346435.1		-	ENST00000357754.1	Missense_Mutation	SNP	17 : 32906007 - 32906007 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	597	160
HUS1B	135458	broad.mit.edu	37	6	656841	656841	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:656841C>T	ENST00000380907.2	-	1	122	c.104G>A	c.(103-105)cGc>cAc	p.R35H	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	35										endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		GCTGTCAGGGCGCACGCGGAG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	26	26			NA	NA	6		NA											NA				656841		2202	4296	6498	SO:0001583	missense			AF508547	CCDS4470.1	6p25.3	2008-08-08	2001-11-28		ENSG00000188996	ENSG00000188996	135458	135458			16485	protein-coding gene	gene with protein product		609713	HUS1 (S. pombe) checkpoint homolog b		NA	11944979	Standard	NM_148959	NM_148959	NA	Approved		uc003mtg.3	Q8NHY5	OTTHUMG00000090059	ENST00000380907.2:c.104G>A	6.37:g.656841C>T	ENSP00000370293:p.Arg35His	NA	Q5T4Z2	37	CCDS4470.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.697071	0.30142	.	.	ENSG00000188996	ENST00000380907	T	0.11277	2.79	2.77	1.85	0.25348	.	0.428272	0.20386	U	0.093349	T	0.02494	0.0076	L	0.29908	0.895	0.09310	N	1	P	0.46277	0.875	B	0.39590	0.304	T	0.42292	-0.9460	10	0.44086	T	0.13	.	7.4847	0.27425	0.0:0.7314:0.2686:0.0	.	35	Q8NHY5	HUS1B_HUMAN	H	35	ENSP00000370293:R35H	ENSP00000370293:R35H	R	-	2	0	HUS1B	601841	0.053000	0.20554	0.001000	0.08648	0.012000	0.07955	0.084000	0.14891	0.709000	0.31976	0.491000	0.48974	CGC	HUS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000205617.2		-	ENST00000380907.2	Missense_Mutation	SNP	6 : 656841 - 656841 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	213	46
ELF3	1999	broad.mit.edu	37	1	201982144	201982144	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201982144A>G	ENST00000359651.3	+	5	3860	c.668A>G	c.(667-669)gAt>gGt	p.D223G	RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.D223G|ELF3_ENST00000367284.5_Missense_Mutation_p.D223G			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	223					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GATCCCACTGATGGCAAGCTC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	46	46			NA	NA	1		NA											NA				201982144		2203	4300	6503	SO:0001583	missense			AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435	1999	1999			3318	protein-coding gene	gene with protein product		602191		ESX	NA	9395241, 9129154	Standard	NM_004433	NM_001114309	NA	Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.668A>G	1.37:g.201982144A>G	ENSP00000352673:p.Asp223Gly	NA	B2R5Q6|Q6IAP8|Q7RU03|Q7Z3X2|Q8NFG2|Q99718	37	CCDS1419.1	.	.	.	.	.	.	.	.	.	.	A	10.71	1.425493	0.25639	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044;ENST00000446188	T;T;T;T	0.53423	2.43;2.43;2.43;0.62	5.37	4.22	0.49857	.	50.140900	0.01575	U	0.020794	T	0.48259	0.1490	M	0.68317	2.08	0.21064	N	0.999799	P	0.36282	0.546	B	0.31614	0.133	T	0.37103	-0.9720	10	0.22109	T	0.4	.	9.9729	0.41765	0.9223:0.0:0.0777:0.0	.	223	P78545	ELF3_HUMAN	G	223;223;223;200;221	ENSP00000352673:D223G;ENSP00000356253:D223G;ENSP00000356252:D223G;ENSP00000405162:D221G	ENSP00000311348:D200G	D	+	2	0	ELF3	200248767	1.000000	0.71417	0.343000	0.25615	0.125000	0.20455	6.381000	0.73163	0.858000	0.35431	0.459000	0.35465	GAT	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087360.1		+	ENST00000359651.3	Missense_Mutation	SNP	1 : 201982144 - 201982144 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	297	68
ACTG2	72	broad.mit.edu	37	2	74146577	74146577	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74146577C>T	ENST00000409731.3	+	8	998	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	ACTG2_ENST00000409624.1_Missense_Mutation_p.R336W|ACTG2_ENST00000345517.3_Missense_Mutation_p.R336W	NM_001199893.1	NP_001186822.1	P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	336					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						TCCCCCAGAGCGGAAGTACTC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	85	84			NA	NA	2		NA											NA				74146577		2203	4300	6503	SO:0001583	missense				CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017	72	72			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3	NA	1710027, 1673027	Standard	NM_001615	NM_001199893	NA	Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409731.3:c.877C>T	2.37:g.74146577C>T	ENSP00000386929:p.Arg293Trp	NA	B2R7E7|D6W5H8|P12718|Q504R1|Q6FI22	37	CCDS56124.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924572	0.52653	.	.	ENSG00000163017	ENST00000409731;ENST00000345517;ENST00000409624	D;D;D	0.96365	-3.99;-3.99;-3.99	4.95	4.05	0.47172	.	0.400763	0.20589	N	0.089385	D	0.99227	0.9731	H	0.99991	5.33	0.45452	D	0.998427	D;D	0.89917	1.0;1.0	D;D	0.78314	0.99;0.991	D	0.97857	1.0278	10	0.87932	D	0	.	13.8071	0.63238	0.1546:0.8453:0.0:0.0	.	293;336	E9PG30;P63267	.;ACTH_HUMAN	W	293;336;336	ENSP00000386929:R293W;ENSP00000295137:R336W;ENSP00000386857:R336W	ENSP00000295137:R336W	R	+	1	2	ACTG2	74000085	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.107000	0.50329	1.395000	0.46643	0.591000	0.81541	CGG	ACTG2-008	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328090.2		+	ENST00000409731.3	Missense_Mutation	SNP	2 : 74146577 - 74146577 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	533	73
KCNJ11	3767	broad.mit.edu	37	11	17408593	17408593	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17408593A>C	ENST00000339994.4	-	1	1613	c.1046T>G	c.(1045-1047)cTt>cGt	p.L349R	KCNJ11_ENST00000528731.1_Missense_Mutation_p.L262R	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	262						integral to membrane	ATP-activated inward rectifier potassium channel activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		GTCCTCATCAAGCTGGCGGGC	0.627		NA									OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	112	115			NA	NA	11		NA											NA				17408593		2200	4293	6493	SO:0001583	missense			D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05					3767	3767		Potassium channels, Voltage-gated ion channels / Potassium channels, Inwardly rectifying	6257	protein-coding gene	gene with protein product		600937			NA	7502040, 16382105	Standard	NM_000525	NM_001166290	NA	Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.1046T>G	11.37:g.17408593A>C	ENSP00000345708:p.Leu349Arg	717		37	CCDS31436.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.990903	0.74703	.	.	ENSG00000187486	ENST00000339994;ENST00000528731	D;D	0.92545	-3.06;-3.06	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000001	D	0.95557	0.8556	M	0.75150	2.29	0.58432	D	0.999999	D	0.76494	0.999	D	0.71184	0.972	D	0.96066	0.9042	10	0.87932	D	0	.	15.4806	0.75524	1.0:0.0:0.0:0.0	.	349	B2RC52	.	R	349;262	ENSP00000345708:L349R;ENSP00000434755:L262R	ENSP00000345708:L349R	L	-	2	0	KCNJ11	17365169	1.000000	0.71417	0.985000	0.45067	0.980000	0.70556	9.339000	0.96797	2.060000	0.61445	0.459000	0.35465	CTT	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387037.1		-	ENST00000339994.4	Missense_Mutation	SNP	11 : 17408593 - 17408593 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	584	44
CASP2	835	broad.mit.edu	37	7	143001775	143001775	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143001775G>A	ENST00000310447.5	+	10	1367	c.1126G>A	c.(1126-1128)Gcc>Acc	p.A376T	CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	376					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					AGGGACTGCCGCCATGCGGAA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	140	148			NA	NA	7		NA											NA				143001775		2203	4300	6503	SO:0001583	missense			AK096245, BC002427, BM998653, BX537669, CB988674, U13021	CCDS5879.1, CCDS47733.1	7q34-q35	2014-01-20	2008-08-01		ENSG00000106144	ENSG00000106144	835	835		Caspases, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	1503	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 57	600639	neural precursor cell expressed, developmentally down-regulated 2	NEDD2	NA	7789948, 8780721	Standard	NM_032982	NM_032982	NA	Approved	ICH1, PPP1R57, MGC2181	uc003wco.3	P42575	OTTHUMG00000023641	ENST00000310447.5:c.1126G>A	7.37:g.143001775G>A	ENSP00000312664:p.Ala376Thr	NA	A8K5F9|D3DXD6|P42576|Q59F21|Q7KZL6|Q86UJ3|Q9BUP7|Q9BZK9	37	CCDS5879.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325193	0.81580	.	.	ENSG00000106144	ENST00000310447	T	0.24908	1.83	5.28	5.28	0.74379	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (2);	0.155507	0.56097	D	0.000027	T	0.51991	0.1707	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.56589	-0.7954	10	0.72032	D	0.01	.	13.8831	0.63693	0.0:0.0:0.8476:0.1524	.	376	P42575	CASP2_HUMAN	T	376	ENSP00000312664:A376T	ENSP00000312664:A376T	A	+	1	0	CASP2	142711897	1.000000	0.71417	0.960000	0.40013	0.577000	0.36160	7.290000	0.78711	2.480000	0.83734	0.644000	0.83932	GCC	CASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059962.3		+	ENST00000310447.5	Missense_Mutation	SNP	7 : 143001775 - 143001775 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	628	86
GRK7	131890	broad.mit.edu	37	3	141497440	141497440	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141497440C>T	ENST00000264952.2	+	1	451	c.314C>T	c.(313-315)gCg>gTg	p.A105V		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	105	RGS.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						AAAGACAGCGCGCTGCAGGGG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	25	24			NA	NA	3		NA											NA				141497440		2199	4291	6490	SO:0001583	missense				CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124	131890	131890			17031	protein-coding gene	gene with protein product		606987		GPRK7	NA	11717351, 11754336	Standard	NM_139209	NM_139209	NA	Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.314C>T	3.37:g.141497440C>T	ENSP00000264952:p.Ala105Val	NA		37	CCDS3120.1	.	.	.	.	.	.	.	.	.	.	C	7.818	0.717074	0.15372	.	.	ENSG00000114124	ENST00000264952	T	0.02015	4.5	4.37	-3.86	0.04230	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	2.007550	0.02149	N	0.057872	T	0.01523	0.0049	N	0.24115	0.695	0.09310	N	1	P	0.42248	0.774	B	0.28784	0.094	T	0.44711	-0.9310	10	0.52906	T	0.07	2.9895	5.7512	0.18148	0.0:0.3545:0.2322:0.4132	.	105	Q8WTQ7	GRK7_HUMAN	V	105	ENSP00000264952:A105V	ENSP00000264952:A105V	A	+	2	0	GRK7	142980130	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	-0.252000	0.08806	-0.921000	0.03794	-0.471000	0.05019	GCG	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353168.1		+	ENST00000264952.2	Missense_Mutation	SNP	3 : 141497440 - 141497440 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	321	13
CCL1	6346	broad.mit.edu	37	17	32690113	32690113	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32690113C>A	ENST00000225842.3	-	1	137	c.68G>T	c.(67-69)aGc>aTc	p.S23I		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1	23					cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity				NA		Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		ACTGCTCTTGCTGTCCACATC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	105	120			NA	NA	17		NA											NA				32690113		2203	4300	6503	SO:0001583	missense			M57506	CCDS11282.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000108702	ENSG00000108702	6346	6346		Endogenous ligands	10609	protein-coding gene	gene with protein product	inflammatory cytokine I-309, T lymphocyte-secreted protein I-309	182281	small inducible cytokine A1 (I-309, homologous to mouse Tca-3)	SCYA1	NA	2212659, 10409433	Standard	NM_002981	NM_002981	NA	Approved	I-309, TCA3, P500, SISe	uc002hid.1	P22362	OTTHUMG00000132888	ENST00000225842.3:c.68G>T	17.37:g.32690113C>A	ENSP00000225842:p.Ser23Ile	NA	B2R5G9|Q2M309	37	CCDS11282.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776681	0.31411	.	.	ENSG00000108702	ENST00000225842	T	0.03413	3.94	4.42	2.41	0.29592	Chemokine interleukin-8-like domain (1);	0.529029	0.20041	N	0.100511	T	0.05640	0.0148	.	.	.	0.09310	N	1	D	0.54964	0.969	P	0.49226	0.603	T	0.29336	-1.0015	9	0.48119	T	0.1	-6.2234	6.3335	0.21282	0.0:0.6976:0.202:0.1004	.	23	P22362	CCL1_HUMAN	I	23	ENSP00000225842:S23I	ENSP00000225842:S23I	S	-	2	0	CCL1	29714226	0.008000	0.16893	0.000000	0.03702	0.022000	0.10575	0.558000	0.23469	0.802000	0.34089	0.644000	0.83932	AGC	CCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256385.2		-	ENST00000225842.3	Missense_Mutation	SNP	17 : 32690113 - 32690113 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	277	53
MDM1	56890	broad.mit.edu	37	12	68707511	68707511	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:68707511C>T	ENST00000540418.1	-	9	1197	c.682G>A	c.(682-684)Gaa>Aaa	p.E228K	MDM1_ENST00000303145.7_Missense_Mutation_p.E508K|MDM1_ENST00000411698.2_Missense_Mutation_p.E473K			Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	508						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		CCTCCTTTTTCTGAGGATACA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	76	74			NA	NA	12		NA											NA				68707511		2203	4300	6503	SO:0001583	missense			AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554	56890	56890			29917	protein-coding gene	gene with protein product		613813	Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)		NA	8619474, 9110174	Standard	NM_020128	NM_017440	NA	Approved		uc001stz.2	Q8TC05		ENST00000540418.1:c.682G>A	12.37:g.68707511C>T	ENSP00000443815:p.Glu228Lys	NA	O43406|Q8WTV9|Q9NR04	37		.	.	.	.	.	.	.	.	.	.	C	13.09	2.131855	0.37630	.	.	ENSG00000111554	ENST00000540418;ENST00000303145;ENST00000411698	T;T;T	0.24723	1.84;1.84;1.84	4.98	4.09	0.47781	.	0.558347	0.17014	N	0.190395	T	0.20941	0.0504	L	0.34521	1.04	0.80722	D	1	B;B	0.27679	0.152;0.185	B;B	0.29785	0.107;0.093	T	0.03555	-1.1025	9	.	.	.	-6.0315	12.8595	0.57906	0.0:0.9204:0.0:0.0796	.	473;508	E7EPQ3;Q8TC05	.;MDM1_HUMAN	K	228;508;473	ENSP00000443815:E228K;ENSP00000302537:E508K;ENSP00000391006:E473K	.	E	-	1	0	MDM1	66993778	0.019000	0.18553	0.931000	0.37212	0.638000	0.38207	0.861000	0.27885	1.238000	0.43771	0.484000	0.47621	GAA	MDM1-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000402401.1		-	ENST00000540418.1	Missense_Mutation	SNP	12 : 68707511 - 68707511 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	71
FLNC	2318	broad.mit.edu	37	7	128496602	128496602	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128496602T>C	ENST00000325888.8	+	44	7543	c.7282T>C	c.(7282-7284)Tcc>Ccc	p.S2428P	FLNC_ENST00000346177.6_Missense_Mutation_p.S2395P|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2428	Interaction with INPPL1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCAGCCAGCGTCCTTTGCCGT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	75	71			NA	NA	7		NA											NA				128496602		2110	4203	6313	SO:0001583	missense			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591	2318	2318			3756	protein-coding gene	gene with protein product	actin binding protein 280	102565	filamin C, gamma (actin binding protein 280)	FLN2	NA	7689010, 8088838	Standard		NM_001458	NA	Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.7282T>C	7.37:g.128496602T>C	ENSP00000327145:p.Ser2428Pro	NA	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	37	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	T	17.33	3.361949	0.61403	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.85088	-1.94;-1.94	4.94	4.94	0.65067	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93003	0.7773	M	0.89095	3.005	0.58432	D	0.999995	D;P	0.76494	0.999;0.908	D;P	0.87578	0.998;0.791	D	0.93234	0.6620	10	0.41790	T	0.15	.	14.8887	0.70590	0.0:0.0:0.0:1.0	.	2395;2428	Q14315-2;Q14315	.;FLNC_HUMAN	P	2428;2395	ENSP00000327145:S2428P;ENSP00000344002:S2395P	ENSP00000327145:S2428P	S	+	1	0	FLNC	128283838	1.000000	0.71417	0.950000	0.38849	0.308000	0.27856	7.970000	0.88000	1.969000	0.57287	0.455000	0.32223	TCC	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059948.3		+	ENST00000325888.8	Missense_Mutation	SNP	7 : 128496602 - 128496602 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	596	69
CD163L1	283316	broad.mit.edu	37	12	7559320	7559320	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7559320C>T	ENST00000416109.2	-	5	943	c.925G>A	c.(925-927)Gta>Ata	p.V309I	CD163L1_ENST00000313599.3_Missense_Mutation_p.V299I|CD163L1_ENST00000396630.1_Missense_Mutation_p.V299I	NM_174941.4	NP_777601.2	Q9NR16	C163B_HUMAN	CD163 molecule-like 1	299	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGCTTGCATACGACATCAGCT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													319	245	270			NA	NA	12		NA											NA				7559320		2203	4300	6503	SO:0001583	missense			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675	283316	283316			30375	protein-coding gene	gene with protein product		606079	CD163 antigen-like 1		NA	11124526, 11086079	Standard	NM_174941	XM_005253348	NA	Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000416109.2:c.925G>A	12.37:g.7559320C>T	ENSP00000393474:p.Val309Ile	NA	C9JHR7|Q6UWC2	37		.	.	.	.	.	.	.	.	.	.	C	14.14	2.446472	0.43429	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.39229	1.09;1.09;1.09	1.75	-1.23	0.09465	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.28001	0.0690	L	0.45581	1.43	0.09310	N	0.99999	P;P	0.40578	0.722;0.722	B;B	0.34038	0.174;0.174	T	0.10497	-1.0627	9	0.39692	T	0.17	.	5.8213	0.18528	0.0:0.5279:0.0:0.4721	.	309;299	E7EVK4;Q9NR16	.;C163B_HUMAN	I	299;309;299	ENSP00000315945:V299I;ENSP00000393474:V309I;ENSP00000379871:V299I	ENSP00000315945:V299I	V	-	1	0	CD163L1	7450587	0.001000	0.12720	0.000000	0.03702	0.356000	0.29392	0.350000	0.20079	-0.408000	0.07565	0.305000	0.20034	GTA	CD163L1-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000399330.1		-	ENST00000416109.2	Missense_Mutation	SNP	12 : 7559320 - 7559320 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	507	74
SHOC2	8036	broad.mit.edu	37	10	112771563	112771563	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:112771563G>A	ENST00000369452.4	+	9	2081	c.1736G>A	c.(1735-1737)cGt>cAt	p.R579H	SHOC2_ENST00000265277.5_Missense_Mutation_p.R533H	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	579					fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		GGTCCATATCGTGCCATGGTC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	69	70			NA	NA	10		NA											NA				112771563		2203	4300	6503	SO:0001583	missense			AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061	8036	8036			15454	protein-coding gene	gene with protein product		602775	soc-2 (suppressor of clear, C.elegans) homolog		NA	9618511, 9674433, 10783161	Standard	NM_007373	NM_007373	NA	Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.1736G>A	10.37:g.112771563G>A	ENSP00000358464:p.Arg579His	NA	A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	37	CCDS7568.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703277	0.68501	.	.	ENSG00000108061	ENST00000265277;ENST00000369452;ENST00000451838	T;T;T	0.39229	1.48;1.09;1.37	5.64	4.74	0.60224	.	0.045276	0.85682	N	0.000000	T	0.58323	0.2114	L	0.49126	1.545	0.80722	D	1	B;D	0.89917	0.003;1.0	B;D	0.74023	0.002;0.982	T	0.61729	-0.7003	10	0.72032	D	0.01	.	14.7556	0.69560	0.07:0.0:0.93:0.0	.	533;579	Q9UQ13-2;Q9UQ13	.;SHOC2_HUMAN	H	533;579;369	ENSP00000265277:R533H;ENSP00000358464:R579H;ENSP00000408275:R369H	ENSP00000265277:R533H	R	+	2	0	SHOC2	112761553	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.803000	0.99136	1.369000	0.46134	0.655000	0.94253	CGT	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050355.1		+	ENST00000369452.4	Missense_Mutation	SNP	10 : 112771563 - 112771563 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	390	77
ADAM7	8756	broad.mit.edu	37	8	24346730	24346730	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24346730G>A	ENST00000520720.1	+	6	596	c.466G>A	c.(466-468)Gat>Aat	p.D156N	RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000175238.6_Missense_Mutation_p.D384N|ADAM7_ENST00000380789.1_Missense_Mutation_p.D384N|RP11-624C23.1_ENST00000519689.1_RNA			Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	384					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GTACTTGAAGGATTATAAGCC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	134	141			NA	NA	8		NA											NA				24346730		2203	4300	6503	SO:0001583	missense			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206	8756	8756		ADAM metallopeptidase domain containing	214	protein-coding gene	gene with protein product		607310	a disintegrin and metalloproteinase domain 7		NA		Standard	NM_003817	NM_003817	NA	Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000520720.1:c.466G>A	8.37:g.24346730G>A	ENSP00000430400:p.Asp156Asn	NA	A8K8X7|O75959	37		.	.	.	.	.	.	.	.	.	.	G	10.07	1.248736	0.22880	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	T;T;T	0.62364	0.03;0.03;0.03	5.74	1.98	0.26296	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.215318	0.32343	N	0.006233	T	0.38692	0.1050	N	0.11892	0.195	0.09310	N	1	B;B	0.25048	0.046;0.117	B;B	0.31812	0.027;0.136	T	0.30090	-0.9990	10	0.09338	T	0.73	.	8.2486	0.31704	0.3886:0.0:0.6114:0.0	.	156;384	E5RK87;Q9H2U9	.;ADAM7_HUMAN	N	384;384;156;199	ENSP00000175238:D384N;ENSP00000370166:D384N;ENSP00000430400:D156N	ENSP00000175238:D384N	D	+	1	0	ADAM7	24402620	0.011000	0.17503	0.008000	0.14137	0.007000	0.05969	0.470000	0.22084	0.079000	0.16929	-0.136000	0.14681	GAT	ADAM7-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000375719.3		+	ENST00000520720.1	Missense_Mutation	SNP	8 : 24346730 - 24346730 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	377	51
PYGB	5834	broad.mit.edu	37	20	25255323	25255323	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25255323G>A	ENST00000216962.4	+	5	734	c.624G>A	c.(622-624)gaG>gaA	p.E208E		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	208					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	GACGCGTGGAGCACACCCCCG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	105	102			NA	NA	20		NA											NA				25255323		2203	4300	6503	SO:0001819	synonymous_variant				CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	5834	5834	2.4.1.1	Glycogen phosphorylases	9723	protein-coding gene	gene with protein product	glycogen phosphorylase, brain form	138550			NA		Standard	NM_002862	NM_002862	NA	Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.624G>A	20.37:g.25255323G>A		NA	Q96AK1|Q9NPX8	37	CCDS13171.1																																																																																			PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078415.2		+	ENST00000216962.4	Silent	SNP	20 : 25255323 - 25255323 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	917	27
AP1S1	1174	broad.mit.edu	37	7	100802426	100802426	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100802426C>A	ENST00000337619.5	+	4	496	c.378C>A	c.(376-378)acC>acA	p.T126T		NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	126					intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					TCCAGGACACCTCCAAGAAGA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	60	58			NA	NA	7		NA											NA				100802426		2114	4210	6324	SO:0001819	synonymous_variant			AB015319	CCDS47669.1	7q22.1	2014-02-04			ENSG00000106367	ENSG00000106367	1174	1174			559	protein-coding gene	gene with protein product	clathrin-associated/assembly/adaptor protein, small 1 (19kD), clathrin coat assembly protein AP19, sigma1A subunit of AP-1 clathrin adaptor complex, AP-1 complex subunit sigma-1A, sigma1A-adaptin, golgi adaptor HA1/AP1 adaptin sigma-1A subunit, clathrin assembly protein complex 1 sigma-1A small chain, HA1 19 kDa subunit	603531	erythrokeratodermia variabilis 3 (Kamouraska type)	CLAPS1, EKV3	NA	9653655, 9733768, 19057675	Standard	NM_001283	NM_001283	NA	Approved	AP19, SIGMA1A, WUGSC:H_DJ0747G18.2	uc003uxv.4	P61966	OTTHUMG00000157103	ENST00000337619.5:c.378C>A	7.37:g.100802426C>A		NA	B2R5D8|P82267|Q00382|Q53YA7|Q9BTN4|Q9UDW9	37	CCDS47669.1	.	.	.	.	.	.	.	.	.	.	C	9.249	1.040322	0.19669	.	.	ENSG00000106367	ENST00000429457	.	.	.	4.82	-0.323	0.12709	.	.	.	.	.	T	0.39517	0.1081	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22800	-1.0206	4	.	.	.	3.3721	0.5486	0.00658	0.2789:0.337:0.1363:0.2478	.	.	.	.	H	168	.	.	P	+	2	0	AP1S1	100589146	0.000000	0.05858	0.992000	0.48379	0.998000	0.95712	-2.737000	0.00801	-0.265000	0.09352	0.555000	0.69702	CCT	AP1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347439.1		+	ENST00000337619.5	Silent	SNP	7 : 100802426 - 100802426 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	162	37
SDF4	51150	broad.mit.edu	37	1	1154014	1154014	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1154014C>T	ENST00000263741.7	-	6	1029		c.e6-1		SDF4_ENST00000360001.6_Splice_Site	NM_016176.3|NM_016547.2	NP_057260.2|NP_057631.1	Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	NA					cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		CCGTCCTGGTCTGCGAGACGG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	78	77			NA	NA	1		NA											NA				1154014		2203	4300	6503	SO:0001630	splice_region_variant				CCDS12.1, CCDS30553.1	1p36.33	2013-01-10			ENSG00000078808	ENSG00000078808	51150	51150		EF-hand domain containing	24188	protein-coding gene	gene with protein product	calcium binding protein	614282			NA	9254016, 8609160	Standard	NM_016176	NM_016176	NA	Approved	Cab45	uc001adh.4	Q9BRK5	OTTHUMG00000001812	ENST00000263741.7:c.737-1G>A	1.37:g.1154014C>T		NA	B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53	37	CCDS12.1	.	.	.	.	.	.	.	.	.	.	c	11.54	1.668782	0.29604	.	.	ENSG00000078808	ENST00000360001;ENST00000263741;ENST00000403997	.	.	.	4.55	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2798	0.82670	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SDF4	1143877	1.000000	0.71417	0.987000	0.45799	0.027000	0.11550	6.972000	0.76110	2.058000	0.61347	0.305000	0.20034	.	SDF4-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005070.1	Intron	-	ENST00000263741.7	Splice_Site	SNP	1 : 1154014 - 1154014 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	386	50
ZSCAN1	284312	broad.mit.edu	37	19	58565026	58565026	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58565026C>T	ENST00000282326.1	+	6	1081	c.834C>T	c.(832-834)ggC>ggT	p.G278G		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	278					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CTGTTGCAGGCATCTCGGTAG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	70	69			NA	NA	19		NA											NA				58565026		2203	4300	6503	SO:0001819	synonymous_variant			AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467	284312	284312		-, Zinc fingers, C2H2-type	23712	protein-coding gene	gene with protein product			zinc finger with SCAN domain 1		NA	12477932	Standard	NM_182572	NM_182572	NA	Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.834C>T	19.37:g.58565026C>T		NA	Q3B798|Q6WLH8|Q86WS8	37	CCDS12969.1																																																																																			ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466427.1		+	ENST00000282326.1	Silent	SNP	19 : 58565026 - 58565026 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	439	37
CNOT3	4849	broad.mit.edu	37	19	54647751	54647751	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54647751C>T	ENST00000406403.1	+	5	1871	c.268C>T	c.(268-270)Cgg>Tgg	p.R90W	CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.R90W			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	90					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCAAATGGAACGGTTCAAAGT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	83	83			NA	NA	19		NA											NA				54647751		2203	4300	6503	SO:0001583	missense			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038	4849	4849			7879	protein-coding gene	gene with protein product	NOT3 (negative regulator of transcription 3, yeast) homolog	604910		NOT3	NA	10637334, 9734811	Standard	NM_014516	NM_014516	NA	Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.268C>T	19.37:g.54647751C>T	ENSP00000383954:p.Arg90Trp	NA	Q9NZN7|Q9UF76	37	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736368	0.69189	.	.	ENSG00000088038	ENST00000221232;ENST00000406403	T;T	0.53423	0.62;0.62	5.28	2.95	0.34219	Not CCR4-Not complex component, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.68146	0.2969	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	T	0.73398	-0.3995	10	0.87932	D	0	-32.5338	11.5923	0.50953	0.5082:0.4918:0.0:0.0	.	90;90;14	B7Z6J7;O75175;Q6ZMJ6	.;CNOT3_HUMAN;.	W	90	ENSP00000221232:R90W;ENSP00000383954:R90W	ENSP00000221232:R90W	R	+	1	2	CNOT3	59339563	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	2.363000	0.44178	1.327000	0.45338	0.655000	0.94253	CGG	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000142130.3		+	ENST00000406403.1	Missense_Mutation	SNP	19 : 54647751 - 54647751 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	584	87
CD58	965	broad.mit.edu	37	1	117078761	117078761	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117078761G>A	ENST00000457047.2	-	3	507	c.454C>T	c.(454-456)Cga>Tga	p.R152*	CD58_ENST00000369487.3_Nonsense_Mutation_p.R152*|CD58_ENST00000369489.5_Nonsense_Mutation_p.R152*	NM_001144822.1	NP_001138294.1	P19256	LFA3_HUMAN	CD58 molecule	152	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		ATAAGTCCTCGATGGCTGTTG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	99	102			NA	NA	1		NA											NA				117078761		2203	4300	6503	SO:0001587	stop_gained			BC005930	CCDS888.1, CCDS44199.1	1p13	2008-02-05	2006-03-28		ENSG00000116815	ENSG00000116815	965	965		CD molecules	1688	protein-coding gene	gene with protein product		153420	CD58 antigen, (lymphocyte function-associated antigen 3)	LFA3	NA	9510189	Standard	NM_001779	NM_001144822	NA	Approved		uc001egm.3	P19256	OTTHUMG00000022749	ENST00000457047.2:c.454C>T	1.37:g.117078761G>A	ENSP00000409080:p.Arg152*	NA	A8K7G5|Q5U053|Q6IB65|Q96KI9	37	CCDS44199.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235409	0.39498	.	.	ENSG00000116815	ENST00000369489;ENST00000457047;ENST00000369487	.	.	.	3.36	-6.71	0.01760	.	13.333200	0.00829	N	0.001654	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	14.9149	7.5945	0.28039	0.0:0.3752:0.2014:0.4234	.	.	.	.	X	152	.	ENSP00000358499:R152X	R	-	1	2	CD58	116880284	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.392000	0.00241	-1.425000	0.01997	-0.182000	0.12963	CGA	CD58-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387905.1		-	ENST00000457047.2	Nonsense_Mutation	SNP	1 : 117078761 - 117078761 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	247	54
KLHL20	27252	broad.mit.edu	37	1	173744779	173744779	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173744779G>A	ENST00000209884.4	+	10	1572	c.1436G>A	c.(1435-1437)cGt>cAt	p.R479H	KLHL20_ENST00000546011.1_Missense_Mutation_p.R290H	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	479					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						ACAGTGGAACGTTACAATCCT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(159;862 2695 6559 23041)							NA				0													73	69	70			NA	NA	1		NA											NA				173744779		2203	4300	6503	SO:0001583	missense			AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321	27252	27252		Kelch-like, BTB/POZ domain containing	25056	protein-coding gene	gene with protein product			kelch-like 20 (Drosophila)		NA	14668487, 20389280	Standard	NM_014458	NM_014458	NA	Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.1436G>A	1.37:g.173744779G>A	ENSP00000209884:p.Arg479His	NA	B3KMA0|Q5TZF2|Q5ZF45|Q9H457	37	CCDS1310.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861815	0.32884	.	.	ENSG00000076321	ENST00000546011;ENST00000209884	T;T	0.81247	-1.47;-1.47	5.37	5.37	0.77165	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.83613	0.5292	H	0.96208	3.785	0.80722	D	1	P;P	0.41393	0.646;0.748	B;B	0.42138	0.303;0.377	D	0.85542	0.1216	10	0.15499	T	0.54	.	17.8879	0.88862	0.0:0.0:1.0:0.0	.	290;479	B4DUR0;Q9Y2M5	.;KLH20_HUMAN	H	290;479	ENSP00000443121:R290H;ENSP00000209884:R479H	ENSP00000209884:R479H	R	+	2	0	KLHL20	172011402	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	9.296000	0.96104	2.524000	0.85096	0.655000	0.94253	CGT	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097582.1		+	ENST00000209884.4	Missense_Mutation	SNP	1 : 173744779 - 173744779 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	278	81
ZMYND11	10771	broad.mit.edu	37	10	295039	295039	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:295039G>T	ENST00000509513.2	+	14	1903	c.1694G>T	c.(1693-1695)aGt>aTt	p.S565I	ZMYND11_ENST00000397962.3_Intron|ZMYND11_ENST00000402736.1_Intron|ZMYND11_ENST00000545619.1_Intron|ZMYND11_ENST00000602682.1_Intron|ZMYND11_ENST00000381602.4_Missense_Mutation_p.S526I|ZMYND11_ENST00000403354.1_Intron|ZMYND11_ENST00000397959.3_Intron|ZMYND11_ENST00000381607.4_Intron|ZMYND11_ENST00000381604.4_Intron|ZMYND11_ENST00000535374.1_Intron|ZMYND11_ENST00000381591.1_Intron|ZMYND11_ENST00000381584.1_Intron|ZMYND11_ENST00000309776.4_Intron|ZMYND11_ENST00000558098.2_Missense_Mutation_p.S566I			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	0					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GTAAATACCAGTCTTTTTTAG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	73	74			NA	NA	10		NA											NA				295039		2203	4300	6503	SO:0001583	missense			X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171	10771	10771		Zinc fingers, MYND-type	16966	protein-coding gene	gene with protein product		608668	zinc finger, MYND domain containing 11		NA	7621829, 10734313	Standard	NM_006624	NM_006624	NA	Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000509513.2:c.1694G>T	10.37:g.295039G>T	ENSP00000424205:p.Ser565Ile	NA	B2R6G8|Q5VUI1	37	CCDS7053.2	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062397	0.36373	.	.	ENSG00000015171	ENST00000381602;ENST00000509513	.	.	.	4.79	-9.58	0.00559	.	.	.	.	.	T	0.13415	0.0325	N	0.08118	0	.	.	.	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36286	-0.9754	7	0.87932	D	0	.	2.7636	0.05314	0.3917:0.0818:0.1035:0.4231	.	566;512	Q2LD45;Q2LD46	.;.	I	526;566	.	ENSP00000371015:S526I	S	+	2	0	ZMYND11	285039	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.716000	0.01878	-3.340000	0.00183	-0.282000	0.10007	AGT	ZMYND11-002	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046381.4		+	ENST00000509513.2	Missense_Mutation	SNP	10 : 295039 - 295039 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	51
CELF4	56853	broad.mit.edu	37	18	34839169	34839169	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34839169C>T	ENST00000591287.1	-	11	1408	c.1302G>A	c.(1300-1302)gaG>gaA	p.E434E	CELF4_ENST00000361795.5_Silent_p.E434E|CELF4_ENST00000601019.1_Silent_p.E434E|CELF4_ENST00000591282.1_Silent_p.E436E|CELF4_ENST00000588597.1_Silent_p.E424E|CELF4_ENST00000603232.1_Silent_p.E435E|CELF4_ENST00000412753.1_Silent_p.E435E|CELF4_ENST00000334919.5_Intron|CELF4_ENST00000420428.2_Silent_p.E436E			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	436	RRM 3.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						TCTGCATCAGCTCAGCGTCCC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	64	67			NA	NA	18		NA											NA				34839169		2203	4300	6503	SO:0001819	synonymous_variant			AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19			56853	56853		RNA binding motif (RRM) containing	14015	protein-coding gene	gene with protein product		612679	Bruno (Drosophila) -like 4, RNA binding protein, bruno-like 4, RNA binding protein (Drosophila)	BRUNOL4	NA	10893231	Standard	NM_020180	NM_020180	NA	Approved		uc002lae.2	Q9BZC1		ENST00000591287.1:c.1302G>A	18.37:g.34839169C>T		NA	Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	37																																																																																				CELF4-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000440888.1		-	ENST00000591287.1	Silent	SNP	18 : 34839169 - 34839169 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	213	34
MED1	5469	broad.mit.edu	37	17	37584042	37584042	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37584042A>G	ENST00000394287.3	-	10	856	c.651T>C	c.(649-651)ggT>ggC	p.G217G	MED1_ENST00000300651.6_Splice_Site_p.G217G			Q15648	MED1_HUMAN	mediator complex subunit 1	217	Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TCATTAAATGACCTATAAAAA	0.303		NA								HNSCC(31;0.082)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(21;279 768 2492 4877 24026)							NA				0													73	74	74			NA	NA	17		NA											NA				37584042		2203	4300	6503	SO:0001630	splice_region_variant			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686	5469	5469			9234	protein-coding gene	gene with protein product		604311	PPAR binding protein	TRIP2, PPARGBP, PPARBP	NA	9325263, 10485914	Standard	NM_004774	NM_004774	NA	Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.650-1T>C	17.37:g.37584042A>G		NA	A2RRQ6|O43810|O75447|Q6P9H7|Q6PK58|Q9HD39	37																																																																																				MED1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000256944.1	Silent	-	ENST00000394287.3	Splice_Site	SNP	17 : 37584042 - 37584042 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	121	22
PRDM2	7799	broad.mit.edu	37	1	14107778	14107778	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:14107778A>G	ENST00000235372.7	+	8	4344	c.3488A>G	c.(3487-3489)aAa>aGa	p.K1163R	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.K962R|PRDM2_ENST00000343137.4_Missense_Mutation_p.K962R|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.K1163R	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1163						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TGGCCCTTCAAATGTGAATTT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	112	111			NA	NA	1		NA											NA				14107778		2203	4300	6503	SO:0001583	missense			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731	7799	7799		Chromatin-modifying enzymes / K-methyltransferases	9347	protein-coding gene	gene with protein product	retinoblastoma protein-binding zinc finger protein, retinoblastoma protein-interacting zinc finger protein, MTE-binding protein, zinc-finger DNA-binding protein, GATA-3 binding protein G3B	601196			NA	7538672	Standard	NM_012231	NM_012231	NA	Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.3488A>G	1.37:g.14107778A>G	ENSP00000235372:p.Lys1163Arg	NA	Q13149|Q14550|Q5VUL9	37	CCDS150.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.932550	0.73442	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.97	5.97	0.96955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.52533	0.1740	L	0.60067	1.865	0.58432	D	0.999991	D;D;D	0.89917	0.98;0.999;1.0	D;D;D	0.85130	0.912;0.994;0.997	T	0.51426	-0.8707	10	0.54805	T	0.06	.	15.2744	0.73732	1.0:0.0:0.0:0.0	.	1021;1163;1163	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	R	1163;1163;1163;962;962	ENSP00000235372:K1163R;ENSP00000312352:K1163R;ENSP00000411103:K962R;ENSP00000341621:K962R	ENSP00000235372:K1163R	K	+	2	0	PRDM2	13980365	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.281000	0.95811	2.288000	0.76882	0.533000	0.62120	AAA	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021792.2		+	ENST00000235372.7	Missense_Mutation	SNP	1 : 14107778 - 14107778 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	571	21
ZIM2	23619	broad.mit.edu	37	19	57286274	57286274	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57286274G>A	ENST00000391708.3	-	12	1908	c.1366C>T	c.(1366-1368)Cgg>Tgg	p.R456W	ZIM2_ENST00000599935.1_Missense_Mutation_p.R456W|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.R456W|ZIM2_ENST00000221722.5_Missense_Mutation_p.R456W|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.R456W|AC006115.3_ENST00000595954.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2	NA										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		TCATGTTTCCGCTGATAACGA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	69	76			NA	NA	19		NA											NA				57286274		2203	4300	6503	SO:0001583	missense			AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699	23619	23619		Zinc fingers, C2H2-type	12875	protein-coding gene	gene with protein product					NA		Standard		NM_015363	NA	Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.1366C>T	19.37:g.57286274G>A	ENSP00000375589:p.Arg456Trp	NA		37	CCDS33123.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361381	0.61403	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.05513	3.43;3.43	4.63	3.52	0.40303	.	.	.	.	.	T	0.22513	0.0543	M	0.79614	2.46	.	.	.	D	0.89917	1.0	D	0.67548	0.952	T	0.17410	-1.0370	8	0.87932	D	0	.	12.0163	0.53315	0.0:0.0:0.8271:0.1729	.	456	Q9NZV7	ZIM2_HUMAN	W	456	ENSP00000375589:R456W;ENSP00000221722:R456W	ENSP00000221722:R456W	R	-	1	2	ZIM2	61978086	0.000000	0.05858	0.731000	0.30826	0.830000	0.47004	-0.107000	0.10873	2.575000	0.86900	0.655000	0.94253	CGG	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416094.2		-	ENST00000391708.3	Missense_Mutation	SNP	19 : 57286274 - 57286274 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	285	10
SLC34A2	10568	broad.mit.edu	37	4	25674748	25674748	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25674748C>A	ENST00000382051.3	+	10	1138	c.1088C>A	c.(1087-1089)gCt>gAt	p.A363D	SLC34A2_ENST00000503434.1_Missense_Mutation_p.A362D|SLC34A2_ENST00000504570.1_Missense_Mutation_p.A362D	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	363					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CCGGATCTTGCTGTGGGCACC	0.532		NA	T	ROS1	NSCLC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		4	4p15.2	10568	solute carrier family 34 (sodium phosphate), member 2		E	0													214	188	197			NA	NA	4		NA											NA				25674748		2203	4300	6503	SO:0001583	missense			AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765	10568	10568		Solute carriers	11020	protein-coding gene	gene with protein product		604217	solute carrier family 34 (sodium phosphate), member 2		NA	10329428, 10610722	Standard	NM_006424	NM_006424	NA	Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1088C>A	4.37:g.25674748C>A	ENSP00000371483:p.Ala363Asp	NA	A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	37	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.168115	0.38315	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	T;T;T	0.25912	1.77;1.77;1.77	5.28	0.993	0.19825	.	0.197636	0.53938	D	0.000059	T	0.45935	0.1367	M	0.89214	3.015	0.53688	D	0.999974	D;P	0.60160	0.987;0.955	P;P	0.58928	0.848;0.71	T	0.43988	-0.9357	10	0.62326	D	0.03	-4.0036	7.2379	0.26079	0.0:0.6647:0.1176:0.2177	.	362;363	O95436-2;O95436	.;NPT2B_HUMAN	D	362;363;362	ENSP00000425501:A362D;ENSP00000371483:A363D;ENSP00000423021:A362D	ENSP00000371483:A363D	A	+	2	0	SLC34A2	25283846	0.032000	0.19561	0.001000	0.08648	0.024000	0.10985	0.470000	0.22084	0.223000	0.20920	0.561000	0.74099	GCT	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214990.1		+	ENST00000382051.3	Missense_Mutation	SNP	4 : 25674748 - 25674748 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	506	14
MMD2	221938	broad.mit.edu	37	7	4959909	4959909	+	Silent	SNP	G	G	A	rs149802923	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4959909G>A	ENST00000404774.3	-	3	377	c.183C>T	c.(181-183)gaC>gaT	p.D61D	MMD2_ENST00000406755.1_Silent_p.D61D|MMD2_ENST00000401401.3_Silent_p.D61D	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	61						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		CCCAGTCATCGTCCGACAGGA	0.617		NA											G	6	0.0027	0.01	NA	2184	NA	0.9995	,	,	NA	3e-04	NA	NA	NA	0.003	0.9267	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				0								G	,	21,4211		0,21,2095	53	60	58		183,183	-6.2	0.2	7	dbSNP_134	58	1,8455		0,1,4227	no	coding-synonymous,coding-synonymous	MMD2	NM_001100600.1,NM_198403.3	,	0,22,6322	AA,AG,GG	NA	0.0118,0.4962,0.1734	,	61/271,61/247	4959909	22,12666	2116	4228	6344	SO:0001819	synonymous_variant			BC037881	CCDS47529.1, CCDS47530.1, CCDS59047.1	7p22	2004-06-23			ENSG00000136297	ENSG00000136297	221938	221938			30133	protein-coding gene	gene with protein product		614581			NA	12477932	Standard	NM_198403	NM_198403	NA	Approved	PAQR10	uc003sno.4	Q8IY49	OTTHUMG00000151844	ENST00000404774.3:c.183C>T	7.37:g.4959909G>A		NA	Q6NVU5|Q6TCH0	37	CCDS47529.1																																																																																			MMD2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324136.1		-	ENST00000404774.3	Silent	SNP	7 : 4959909 - 4959909 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	74	10
COL3A1	1281	broad.mit.edu	37	2	189872614	189872614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189872614C>T	ENST00000304636.3	+	46	3537	c.3367C>T	c.(3367-3369)Cct>Tct	p.P1123S	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1123	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TTTCCAGGGCCCTGCTGGTCA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	70	69			NA	NA	2		NA											NA				189872614		2203	4300	6503	SO:0001583	missense			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542	1281	1281		Collagens	2201	protein-coding gene	gene with protein product		120180	Ehlers-Danlos syndrome type IV, autosomal dominant	EDS4A	NA	2780304, 2834369	Standard	NM_000090	NM_000090	NA	Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.3367C>T	2.37:g.189872614C>T	ENSP00000304408:p.Pro1123Ser	NA	D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91	37	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	7.410	0.634509	0.14322	.	.	ENSG00000168542	ENST00000304636	D	0.92397	-3.03	5.5	1.43	0.22495	.	0.499804	0.17163	N	0.184617	D	0.85427	0.5694	L	0.41415	1.275	0.09310	N	0.999999	B	0.06786	0.001	B	0.13407	0.009	T	0.70371	-0.4890	10	0.23302	T	0.38	.	7.5953	0.28044	0.1163:0.3413:0.475:0.0674	.	1123	P02461	CO3A1_HUMAN	S	1123	ENSP00000304408:P1123S	ENSP00000304408:P1123S	P	+	1	0	COL3A1	189580859	0.000000	0.05858	0.969000	0.41365	0.943000	0.58893	-0.751000	0.04803	0.263000	0.21812	0.650000	0.86243	CCT	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255899.3		+	ENST00000304636.3	Missense_Mutation	SNP	2 : 189872614 - 189872614 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	517	121
KIAA1045	23349	broad.mit.edu	37	9	34972508	34972508	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34972508G>T	ENST00000242315.3	+	3	626	c.544G>T	c.(544-546)Ggc>Tgc	p.G182C	KIAA1045_ENST00000544237.1_Missense_Mutation_p.G182C|KIAA1045_ENST00000476115.2_3'UTR	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	182							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			CACAGAAACAGGCTGGAGCTG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	61	56			NA	NA	9		NA											NA				34972508		2041	4172	6213	SO:0001583	missense			AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733	23349	23349			29180	protein-coding gene	gene with protein product					NA	10470851	Standard	XM_048592	NM_015297	NA	Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.544G>T	9.37:g.34972508G>T	ENSP00000242315:p.Gly182Cys	NA	B7Z253|Q58FE9|Q5T662	37	CCDS43796.1	.	.	.	.	.	.	.	.	.	.	g	33	5.206604	0.95033	.	.	ENSG00000122733	ENST00000544237;ENST00000242315	.	.	.	5.73	5.73	0.89815	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.79058	0.4382	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80106	-0.1521	9	0.87932	D	0	-2.4144	18.8848	0.92372	0.0:0.0:1.0:0.0	.	182	Q9UPV7	K1045_HUMAN	C	182	.	ENSP00000242315:G182C	G	+	1	0	KIAA1045	34962508	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.743000	0.91592	2.700000	0.92200	0.655000	0.94253	GGC	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052256.2		+	ENST00000242315.3	Missense_Mutation	SNP	9 : 34972508 - 34972508 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	488	96
ITGB4	3691	broad.mit.edu	37	17	73727036	73727036	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73727036G>T	ENST00000200181.3	+	9	1270	c.1083G>T	c.(1081-1083)gaG>gaT	p.E361D	ITGB4_ENST00000579662.1_Missense_Mutation_p.E361D|ITGB4_ENST00000339591.3_Missense_Mutation_p.E361D|ITGB4_ENST00000450894.3_Missense_Mutation_p.E361D|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Missense_Mutation_p.E361D	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	361					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCTGGAGGAGGCCTTCAATG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	82	82			NA	NA	17		NA											NA				73727036		2203	4300	6503	SO:0001583	missense				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470	3691	3691		CD molecules, Integrins, Fibronectin type III domain containing	6158	protein-coding gene	gene with protein product		147557			NA	2070796	Standard		XM_005257309	NA	Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1083G>T	17.37:g.73727036G>T	ENSP00000200181:p.Glu361Asp	NA	O14690|O14691|O15339|O15340|O15341|Q9UIQ4	37	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861215	0.32884	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.97553	-4.43;-4.43;-4.43	5.42	-3.46	0.04767	Integrin beta subunit, N-terminal (2);	0.679936	0.14303	N	0.328121	D	0.92789	0.7707	N	0.22421	0.69	0.23859	N	0.996646	B;P;P;D	0.55800	0.097;0.929;0.942;0.973	B;B;P;P	0.53401	0.099;0.399;0.634;0.725	D	0.87441	0.2395	10	0.24483	T	0.36	.	3.4322	0.07433	0.3887:0.0992:0.411:0.101	.	361;361;361;361	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	D	277;361;361;361	ENSP00000200181:E361D;ENSP00000344079:E361D;ENSP00000400217:E361D	ENSP00000200181:E361D	E	+	3	2	ITGB4	71238631	0.062000	0.20869	0.993000	0.49108	0.945000	0.59286	-0.468000	0.06656	-0.199000	0.10317	0.557000	0.71058	GAG	ITGB4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448334.1		+	ENST00000200181.3	Missense_Mutation	SNP	17 : 73727036 - 73727036 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	600	115
WDR16	146845	broad.mit.edu	37	17	9489210	9489210	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9489210G>A	ENST00000576499.1	+	2	205	c.191G>A	c.(190-192)gGc>gAc	p.G64D	WDR16_ENST00000299764.5_Missense_Mutation_p.G74D|WDR16_ENST00000396219.3_Intron|WDR16_ENST00000352665.5_Missense_Mutation_p.G64D			Q8N1V2	WDR16_HUMAN	WD repeat domain 16	NA						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CAGGGTCATGGCAACAACGTC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													201	178	185			NA	NA	17		NA											NA				9489210		2203	4300	6503	SO:0001583	missense			AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596	146845	146845		WD repeat domain containing	16053	protein-coding gene	gene with protein product	WD40-repeat protein upregulated in HCC	609804			NA	15967112	Standard	NM_145054	NM_001080556	NA	Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000576499.1:c.191G>A	17.37:g.9489210G>A	ENSP00000476293:p.Gly64Asp	NA	B2RDU7|Q5DX23|Q8TC73|Q8TCI3	37		.	.	.	.	.	.	.	.	.	.	G	0.033	-1.324719	0.01309	.	.	ENSG00000166596	ENST00000352665;ENST00000299764	T;T	0.59502	0.26;0.26	5.86	-1.66	0.08265	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.436137	0.27236	N	0.020293	T	0.27731	0.0682	N	0.12611	0.24	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.19811	-1.0294	10	0.09590	T	0.72	-3.5552	6.1656	0.20388	0.4481:0.2334:0.3185:0.0	.	74;64	Q8N1V2-2;Q8N1V2	.;WDR16_HUMAN	D	64;74	ENSP00000339449:G64D;ENSP00000299764:G74D	ENSP00000299764:G74D	G	+	2	0	WDR16	9429935	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	0.843000	0.27640	-0.189000	0.10482	-0.224000	0.12420	GGC	WDR16-009	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000439850.2		+	ENST00000576499.1	Missense_Mutation	SNP	17 : 9489210 - 9489210 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	922	177
SOX6	55553	broad.mit.edu	37	11	16077436	16077436	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16077436G>A	ENST00000352083.6	-	10	1190	c.1113C>T	c.(1111-1113)gcC>gcT	p.A371A	SOX6_ENST00000528429.1_Silent_p.A371A|SOX6_ENST00000316399.6_Silent_p.A371A|SOX6_ENST00000396356.3_Silent_p.A371A|SOX6_ENST00000527619.1_Silent_p.A333A|SOX6_ENST00000528252.1_Silent_p.A330A			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	371					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CCAGCTGAGCGGCATAGAGCT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	86	90			NA	NA	11		NA											NA				16077436		2200	4294	6494	SO:0001819	synonymous_variant			AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05					55553	55553		SRY (sex determining region Y)-boxes	16421	protein-coding gene	gene with protein product		607257			NA	11255018	Standard	NM_033326	NM_033326	NA	Approved		uc001mme.3	P35712		ENST00000352083.6:c.1113C>T	11.37:g.16077436G>A		NA	Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	37																																																																																				SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000386811.1		-	ENST00000352083.6	Silent	SNP	11 : 16077436 - 16077436 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	311	56
ZNF831	128611	broad.mit.edu	37	20	57767889	57767889	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57767889G>A	ENST00000371030.2	+	1	1815	c.1815G>A	c.(1813-1815)agG>agA	p.R605R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	605						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGGGCGGCAGGAAGTGCGGCC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	49	47			NA	NA	20		NA											NA				57767889		2063	4196	6259	SO:0001819	synonymous_variant			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203	128611	128611			16167	protein-coding gene	gene with protein product			chromosome 20 open reading frame 174	C20orf174	NA		Standard	NM_178457	NM_178457	NA	Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1815G>A	20.37:g.57767889G>A		NA	Q5TDR4|Q8TCP0	37	CCDS42894.1																																																																																			ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079916.2		+	ENST00000371030.2	Silent	SNP	20 : 57767889 - 57767889 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	452	15
CLPX	10845	broad.mit.edu	37	15	65448058	65448058	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65448058C>T	ENST00000300107.3	-	10	1471	c.1283G>A	c.(1282-1284)aGa>aAa	p.R428K		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	428					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						GCTGATGATTCTGTCTAAACC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	128	129			NA	NA	15		NA											NA				65448058		2202	4299	6501	SO:0001583	missense			AJ006267	CCDS10202.1	15q22.31	2013-09-12	2013-09-12		ENSG00000166855	ENSG00000166855	10845	10845		ATPases / AAA-type	2088	protein-coding gene	gene with protein product		615611	ClpX (caseinolytic protease X, E. coli) homolog, ClpX caseinolytic protease X homolog (E. coli), ClpX caseinolytic peptidase X homolog (E. coli)		NA	22841477	Standard	NM_006660	NM_006660	NA	Approved		uc002aom.3	O76031	OTTHUMG00000133139	ENST00000300107.3:c.1283G>A	15.37:g.65448058C>T	ENSP00000300107:p.Arg428Lys	NA	A1L428|A8K8F1|B9EGI8|Q9H4D9	37	CCDS10202.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551455	0.45487	.	.	ENSG00000166855	ENST00000300107;ENST00000546194	T	0.38240	1.15	5.98	5.98	0.97165	ATPase, AAA-2 (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.19446	0.0467	N	0.02111	-0.68	0.80722	D	1	B	0.24132	0.098	B	0.34180	0.177	T	0.17592	-1.0364	10	0.05351	T	0.99	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	428	O76031	CLPX_HUMAN	K	428	ENSP00000300107:R428K	ENSP00000300107:R428K	R	-	2	0	CLPX	63235111	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.747000	0.85070	2.838000	0.97847	0.591000	0.81541	AGA	CLPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256828.2		-	ENST00000300107.3	Missense_Mutation	SNP	15 : 65448058 - 65448058 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	634	120
PXN	5829	broad.mit.edu	37	12	120660699	120660699	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120660699C>T	ENST00000536957.1	-	4	929	c.454G>A	c.(454-456)Gct>Act	p.A152T	PXN_ENST00000458477.2_Missense_Mutation_p.A21T|PXN_ENST00000424649.2_Missense_Mutation_p.A154T|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000267257.7_Missense_Mutation_p.A154T|PXN_ENST00000228307.7_Missense_Mutation_p.A154T			P49023	PAXI_HUMAN	paxillin	154					cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGCTGTACAGCGTTCAGTTCC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	84	83			NA	NA	12		NA											NA				120660699		2012	4186	6198	SO:0001583	missense			U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159	5829	5829			9718	protein-coding gene	gene with protein product		602505			NA	7534286	Standard	NM_002859	NM_001080855	NA	Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000536957.1:c.454G>A	12.37:g.120660699C>T	ENSP00000443887:p.Ala152Thr	NA	B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	37		.	.	.	.	.	.	.	.	.	.	C	19.24	3.790286	0.70337	.	.	ENSG00000089159	ENST00000458477;ENST00000228307;ENST00000424649;ENST00000536957;ENST00000267257;ENST00000543331;ENST00000546532;ENST00000548912;ENST00000552550	T;T;T;T;T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03;0.03;0.03;0.03;0.03	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.78149	0.4238	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	T	0.73799	-0.3869	10	0.17369	T	0.5	-8.7967	18.7469	0.91797	0.0:1.0:0.0:0.0	.	154;154;154	P49023-2;P49023-3;P49023	.;.;PAXI_HUMAN	T	21;154;154;152;154;155;21;21;21	ENSP00000395536:A21T;ENSP00000228307:A154T;ENSP00000391283:A154T;ENSP00000443887:A152T;ENSP00000267257:A154T;ENSP00000443745:A155T;ENSP00000447180:A21T;ENSP00000446607:A21T;ENSP00000446650:A21T	ENSP00000228307:A154T	A	-	1	0	PXN	119145082	1.000000	0.71417	0.524000	0.27887	0.323000	0.28346	4.467000	0.60155	2.442000	0.82660	0.591000	0.81541	GCT	PXN-004	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000402737.1		-	ENST00000536957.1	Missense_Mutation	SNP	12 : 120660699 - 120660699 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	195	38
NPY4R	5540	broad.mit.edu	37	10	47087512	47087512	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:47087512G>A	ENST00000395716.1	+	2	814	c.729G>A	c.(727-729)agG>agA	p.R243R	NPY4R_ENST00000374312.1_Silent_p.R243R					neuropeptide Y receptor Y4	NA											NA						GCCTGCAGAGGCAGGGGCGCG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	126	136			NA	NA	10		NA											NA				47087512		2203	4300	6503	SO:0001819	synonymous_variant				CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174	NA	5540		GPCR / Class A : Neuropeptide receptors : Y	9329	protein-coding gene	gene with protein product		601790	pancreatic polypeptide receptor 1	PPYR1	NA	9417917	Standard		NM_005972	NA	Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.729G>A	10.37:g.47087512G>A		NA		37	CCDS31193.1																																																																																			NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047837.1		+	ENST00000395716.1	Silent	SNP	10 : 47087512 - 47087512 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	912	59
CABIN1	23523	broad.mit.edu	37	22	24561582	24561582	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24561582C>T	ENST00000405822.2	+	30	4852	c.4758C>T	c.(4756-4758)agC>agT	p.S1586S	CABIN1_ENST00000337989.7_Silent_p.S90S|CABIN1_ENST00000398319.2_Silent_p.S1665S|CABIN1_ENST00000263119.5_Silent_p.S1665S			Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1665					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ACACGCTGAGCGAGCTCGCAG	0.617		NA											C	2	9e-04	0.0041	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	9e-04	0.9768	EXOME	NA	NA	9e-04	SNP								NA				0								C	,,	2,4402	4.2+/-10.8	0,2,2200	102	65	77		4995,4845,4995	-2.5	1	22		77	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CABIN1	NM_001199281.1,NM_001201429.1,NM_012295.3	,,	0,2,6500	TT,TC,CC	NA	0.0,0.0454,0.0154	,,	1665/2221,1615/2171,1665/2221	24561582	2,13002	2202	4300	6502	SO:0001819	synonymous_variant			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991	23523	23523			24187	protein-coding gene	gene with protein product		604251			NA	9655484, 9205841	Standard	NM_012295	NM_001199281	NA	Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000405822.2:c.4758C>T	22.37:g.24561582C>T		NA	Q9Y460	37																																																																																				CABIN1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000320162.2		+	ENST00000405822.2	Silent	SNP	22 : 24561582 - 24561582 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	119	27
ZNF177	7730	broad.mit.edu	37	19	9492029	9492029	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9492029A>G	ENST00000590616.1	+	5	379				ZNF177_ENST00000434737.2_Missense_Mutation_p.D341G|ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000343499.4_Missense_Mutation_p.D181G|ZNF177_ENST00000602738.1_Missense_Mutation_p.D181G|ZNF177_ENST00000589262.1_Missense_Mutation_p.D341G|ZNF177_ENST00000541595.2_Missense_Mutation_p.D181G|ZNF177_ENST00000602856.1_3'UTR			Q13360	ZN177_HUMAN	zinc finger protein 177	NA					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						AAACCCTATGACTGTAAGGAA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	97	97			NA	NA	19		NA											NA				9492029		2203	4300	6503	SO:0001627	intron_variant			U37263, BC012012	CCDS12212.1, CCDS54214.1	19p13.2	2013-01-08					7730	7730		Zinc fingers, C2H2-type, -	12966	protein-coding gene	gene with protein product		601276			NA		Standard	NM_003451	NM_003451	NA	Approved		uc021uon.1	Q13360		ENST00000590616.1:c.337-1032A>G	19.37:g.9492029A>G		NA	Q96ER2	37		.	.	.	.	.	.	.	.	.	.	A	13.85	2.361363	0.41801	.	.	ENSG00000188629	ENST00000541595;ENST00000343499;ENST00000434737	T;T;T	0.18174	3.19;3.19;2.23	2.64	1.56	0.23342	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07773	0.0195	N	0.11023	0.085	0.25653	N	0.986071	B;B	0.32396	0.08;0.369	B;B	0.30251	0.085;0.113	T	0.21965	-1.0230	8	0.87932	D	0	.	3.3069	0.07003	0.5169:0.2449:0.0:0.2382	.	341;181	B4DY57;Q13360	.;ZN177_HUMAN	G	181;181;341	ENSP00000445323:D181G;ENSP00000341497:D181G;ENSP00000415070:D341G	ENSP00000341497:D181G	D	+	2	0	ZNF177	9353029	0.000000	0.05858	0.714000	0.30535	0.991000	0.79684	0.192000	0.17096	0.402000	0.25451	0.460000	0.39030	GAC	ZNF177-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000449029.1		+	ENST00000590616.1	Intron	SNP	19 : 9492029 - 9492029 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	295	69
KCNK13	56659	broad.mit.edu	37	14	90651173	90651173	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90651173C>T	ENST00000282146.4	+	2	1494	c.1053C>T	c.(1051-1053)gaC>gaT	p.D351D		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	351						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CCATGAAGGACTTGCTGGCAG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	47	47			NA	NA	14		NA											NA				90651173		2203	4299	6502	SO:0001819	synonymous_variant			AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315	56659	56659		Potassium channels, Voltage-gated ion channels / Potassium channels, Two-P	6275	protein-coding gene	gene with protein product		607367			NA	11060316, 16382106	Standard	NM_022054	NM_022054	NA	Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.1053C>T	14.37:g.90651173C>T		NA	Q96E79	37	CCDS9889.1																																																																																			KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411251.1		+	ENST00000282146.4	Silent	SNP	14 : 90651173 - 90651173 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	480	77
TRIM65	201292	broad.mit.edu	37	17	73888881	73888881	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73888881G>A	ENST00000269383.3	-	2	530	c.465C>T	c.(463-465)gcC>gcT	p.A155A		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	155						intracellular	zinc ion binding			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTGGCCTTCGGCCTGGGTGG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	42	43			NA	NA	17		NA											NA				73888881		2203	4300	6503	SO:0001819	synonymous_variant			BC006138	CCDS11732.1	17q25.1	2013-01-09	2011-01-25		ENSG00000141569	ENSG00000141569	201292	201292		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	27316	protein-coding gene	gene with protein product			tripartite motif-containing 65		NA	12477932	Standard	NM_173547	NM_173547	NA	Approved		uc002jpx.4	Q6PJ69	OTTHUMG00000132127	ENST00000269383.3:c.465C>T	17.37:g.73888881G>A		NA	Q4G0F0|Q6DKJ6|Q9BRP6	37	CCDS11732.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.465|0.465	-0.887240|-0.887240	0.02511|0.02511	.|.	.|.	ENSG00000141569|ENSG00000141569	ENST00000543309|ENST00000540128	.|.	.|.	.|.	4.74|4.74	-9.49|-9.49	0.00587|0.00587	.|.	.|.	.|.	.|.	.|.	T|.	0.17534|.	0.0421|.	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999996|0.999996	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.14559|.	-1.0468|.	4|.	.|.	.|.	.|.	.|.	4.94|4.94	0.13960|0.13960	0.5911:0.1913:0.1173:0.1003|0.5911:0.1913:0.1173:0.1003	.|.	.|.	.|.	.|.	L|X	29|147	.|.	.|.	P|R	-|-	2|1	0|2	TRIM65|TRIM65	71400476|71400476	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.010000|0.010000	0.07245|0.07245	-2.938000|-2.938000	0.00684|0.00684	-2.416000|-2.416000	0.00567|0.00567	0.556000|0.556000	0.70494|0.70494	CCG|CGA	TRIM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255170.2		-	ENST00000269383.3	Silent	SNP	17 : 73888881 - 73888881 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	213	41
ACTL9	284382	broad.mit.edu	37	19	8808430	8808430	+	Missense_Mutation	SNP	C	C	T	rs139329295		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8808430C>T	ENST00000324436.3	-	1	742	c.622G>A	c.(622-624)Gtc>Atc	p.V208I		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	208						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CCCTGGAAGACGGGCACTGTG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	46	47			NA	NA	19		NA											NA				8808430		2203	4300	6503	SO:0001583	missense				CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786	284382	284382			28494	protein-coding gene	gene with protein product					NA		Standard	NM_178525	NM_178525	NA	Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.622G>A	19.37:g.8808430C>T	ENSP00000316674:p.Val208Ile	NA	A8K893|Q6X960	37	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.253424	0.22965	.	.	ENSG00000181786	ENST00000324436	D	0.95622	-3.76	4.34	4.34	0.51931	.	0.000000	0.41500	D	0.000878	D	0.87281	0.6138	L	0.28192	0.835	0.30637	N	0.756871	P	0.39131	0.661	B	0.32762	0.152	T	0.83212	-0.0073	10	0.02654	T	1	.	9.7105	0.40243	0.0:0.9027:0.0:0.0973	.	208	Q8TC94	ACTL9_HUMAN	I	208	ENSP00000316674:V208I	ENSP00000316674:V208I	V	-	1	0	ACTL9	8669430	0.788000	0.28762	0.972000	0.41901	0.959000	0.62525	1.294000	0.33365	2.420000	0.82092	0.462000	0.41574	GTC	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459953.1		-	ENST00000324436.3	Missense_Mutation	SNP	19 : 8808430 - 8808430 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	67
EFCAB6	64800	broad.mit.edu	37	22	44074024	44074024	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44074024G>A	ENST00000262726.7	-	13	1524	c.1271C>T	c.(1270-1272)aCa>aTa	p.T424I	EFCAB6_ENST00000396231.2_Missense_Mutation_p.T272I|EFCAB6_ENST00000358439.4_3'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	424	EF-hand 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTCTTCTCTTGTTATCGGTCC	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	83	83			NA	NA	22		NA											NA				44074024		2203	4300	6503	SO:0001583	missense			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976	64800	64800		EF-hand domain containing	24204	protein-coding gene	gene with protein product					NA	11258795, 12612053	Standard	NM_022785	NM_022785	NA	Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1271C>T	22.37:g.44074024G>A	ENSP00000262726:p.Thr424Ile	NA	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	37	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.552644	0.45487	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	D;D	0.86030	-2.06;-2.06	4.96	1.56	0.23342	EF-hand-like domain (1);	0.232653	0.32901	N	0.005510	D	0.89815	0.6824	M	0.87547	2.89	0.09310	N	1	P	0.49090	0.919	P	0.57371	0.819	T	0.81697	-0.0815	10	0.54805	T	0.06	-8.9726	7.7694	0.28999	0.0:0.1602:0.5085:0.3313	.	424	Q5THR3	EFCB6_HUMAN	I	272;424	ENSP00000379533:T272I;ENSP00000262726:T424I	ENSP00000262726:T424I	T	-	2	0	EFCAB6	42405357	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.779000	0.26746	0.320000	0.23234	0.650000	0.86243	ACA	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353176.1		-	ENST00000262726.7	Missense_Mutation	SNP	22 : 44074024 - 44074024 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	60
ZNF574	64763	broad.mit.edu	37	19	42585196	42585196	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42585196G>A	ENST00000600245.1	+	2	3093	c.2438G>A	c.(2437-2439)cGc>cAc	p.R813H	ZNF574_ENST00000222339.7_Missense_Mutation_p.R903H|ZNF574_ENST00000359044.4_Missense_Mutation_p.R813H			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	813					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GCAGAACATCGCCGCATCCAC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	66	66			NA	NA	19		NA											NA				42585196		2203	4300	6503	SO:0001583	missense			AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732	64763	64763		Zinc fingers, C2H2-type	26166	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_022752	NM_022752	NA	Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.2438G>A	19.37:g.42585196G>A	ENSP00000469029:p.Arg813His	NA	Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	37	CCDS12596.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.79|15.79	2.936183|2.936183	0.52972|0.52972	.|.	.|.	ENSG00000105732|ENSG00000105732	ENST00000535775|ENST00000222339;ENST00000359044	.|T;T	.|0.07688	.|3.17;3.17	4.84|4.84	4.84|4.84	0.62591|0.62591	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.077728	.|0.49305	.|D	.|0.000142	T|T	0.15176|0.15176	0.0366|0.0366	L|L	0.31845|0.31845	0.965|0.965	0.34860|0.34860	D|D	0.742544|0.742544	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.74023	.|0.957;0.982	T|T	0.07908|0.07908	-1.0748|-1.0748	6|10	0.72032|0.48119	D|T	0.01|0.1	-21.3264|-21.3264	7.1979|7.1979	0.25864|0.25864	0.1825:0.0:0.8175:0.0|0.1825:0.0:0.8175:0.0	.|.	.|813;902	.|Q6ZN55;Q6ZN55-2	.|ZN574_HUMAN;.	T|H	420|903;813	.|ENSP00000222339:R903H;ENSP00000351939:R813H	ENSP00000445515:A420T|ENSP00000222339:R903H	A|R	+|+	1|2	0|0	ZNF574|ZNF574	47277036|47277036	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	1.503000|1.503000	0.35715|0.35715	2.510000|2.510000	0.84645|0.84645	0.557000|0.557000	0.71058|0.71058	GCC|CGC	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463458.1		+	ENST00000600245.1	Missense_Mutation	SNP	19 : 42585196 - 42585196 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	545	104
ZNF85	7639	broad.mit.edu	37	19	21132513	21132513	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21132513A>G	ENST00000601023.1	+	2	1662	c.1016A>G	c.(1015-1017)tAc>tGc	p.Y339C	ZNF85_ENST00000345030.6_Missense_Mutation_p.Y365C|ZNF85_ENST00000328178.8_Missense_Mutation_p.Y398C			Q03923	ZNF85_HUMAN	zinc finger protein 85	398						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						GAGAAACCTTACAAATGTAAA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	34	33			NA	NA	19		NA											NA				21132513		2199	4293	6492	SO:0001583	missense			U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750	7639	7639		Zinc fingers, C2H2-type, -	13160	protein-coding gene	gene with protein product		603899	zinc finger protein 85 (HPF4, HTF1)		NA	2505992	Standard	NM_003429	NM_003429	NA	Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000601023.1:c.1016A>G	19.37:g.21132513A>G	ENSP00000472206:p.Tyr339Cys	NA	B9ZVP4	37		.	.	.	.	.	.	.	.	.	.	.	2.088	-0.409035	0.04799	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.25414	1.8;1.8	1.35	-0.205	0.13196	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41259	0.1151	M	0.70903	2.155	0.09310	N	1	D;D;D	0.89917	1.0;1.0;0.994	D;D;D	0.91635	0.999;0.995;0.955	T	0.21999	-1.0229	9	0.66056	D	0.02	.	2.1393	0.03771	0.5521:0.0:0.193:0.2549	.	365;339;398	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	C	398;365;273	ENSP00000329793:Y398C;ENSP00000342340:Y365C	ENSP00000329793:Y398C	Y	+	2	0	ZNF85	20924353	0.000000	0.05858	0.038000	0.18304	0.086000	0.17979	-0.339000	0.07832	0.569000	0.29329	0.379000	0.24179	TAC	ZNF85-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000463433.2		+	ENST00000601023.1	Missense_Mutation	SNP	19 : 21132513 - 21132513 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	153	16
CACNG5	27091	broad.mit.edu	37	17	64881064	64881064	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:64881064G>A	ENST00000533854.1	+	6	807				CACNG5_ENST00000169565.3_Missense_Mutation_p.A286T|CACNG5_ENST00000307139.3_Intron			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	NA					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GCAGGCCCCAGCAGCGAGCCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	72	73			NA	NA	17		NA											NA				64881064		2203	4300	6503	SO:0001627	intron_variant			AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429	27091	27091		Calcium channel subunits	1409	protein-coding gene	gene with protein product		606405			NA	10613843	Standard	NM_014404, NM_145811	NM_145811	NA	Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.571-36G>A	17.37:g.64881064G>A		NA	A8K2A6|Q547R3|Q8WXS7|Q9UHM3	37	CCDS11665.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.809849	0.31961	.	.	ENSG00000075429	ENST00000169565	T	0.53640	0.61	3.43	0.0217	0.14130	.	.	.	.	.	T	0.30978	0.0782	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23368	-1.0190	5	.	.	.	.	3.1778	0.06575	0.1013:0.1654:0.5496:0.1837	.	.	.	.	T	286	ENSP00000169565:A286T	.	A	+	1	0	CACNG5	62311526	0.001000	0.12720	0.004000	0.12327	0.002000	0.02628	0.662000	0.25038	0.066000	0.16515	-0.216000	0.12614	GCA	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389882.1		+	ENST00000533854.1	Intron	SNP	17 : 64881064 - 64881064 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	306	60
EEF1G	1937	broad.mit.edu	37	11	62334931	62334931	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62334931G>T	ENST00000329251.4	-	6	722	c.592C>A	c.(592-594)Ccc>Acc	p.P198T	MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000378019.3_Missense_Mutation_p.P248T	NM_001404.4	NP_001395.1	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	198	GST C-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CGGAACTGGGGCTGGTTAATG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	40	41			NA	NA	11		NA											NA				62334931		1904	4117	6021	SO:0001583	missense			X63526	CCDS44626.1	11q12.3	2008-02-05			ENSG00000254772	ENSG00000254772	1937	1937			3213	protein-coding gene	gene with protein product		130593			NA	1598220, 1461723	Standard	NM_001404	NM_001404	NA	Approved	EF1G	uc001ntm.1	P26641	OTTHUMG00000167567	ENST00000329251.4:c.592C>A	11.37:g.62334931G>T	ENSP00000331901:p.Pro198Thr	NA	Q6PJ62|Q6PK31|Q96CU2|Q9P196	37	CCDS44626.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719014	0.89205	.	.	ENSG00000254772	ENST00000329251;ENST00000378019	T;T	0.34667	1.35;1.35	4.8	4.8	0.61643	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.68016	0.2955	M	0.93898	3.47	0.80722	D	1	D;P	0.60575	0.988;0.868	D;P	0.65573	0.936;0.817	T	0.77629	-0.2516	10	0.66056	D	0.02	.	15.7129	0.77644	0.0:0.0:1.0:0.0	.	248;198	B4DTG2;P26641	.;EF1G_HUMAN	T	198;248	ENSP00000331901:P198T;ENSP00000367258:P248T	ENSP00000331901:P198T	P	-	1	0	EEF1G	62091507	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.392000	0.97252	2.380000	0.81148	0.561000	0.74099	CCC	EEF1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395047.1		-	ENST00000329251.4	Missense_Mutation	SNP	11 : 62334931 - 62334931 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	101	21
SULT1A2	6799	broad.mit.edu	37	16	28604766	28604766	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28604766C>A	ENST00000533150.1	-	3	1574				SULT1A2_ENST00000395630.1_Nonsense_Mutation_p.E166*|SULT1A2_ENST00000335715.4_Nonsense_Mutation_p.E166*			P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	NA					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						AGCCCACCTTCTCCAGCCATG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	136	137			NA	NA	16		NA											NA				28604766		2197	4300	6497	SO:0001627	intron_variant			U34804	CCDS10636.1	16p12.1	2008-02-05			ENSG00000197165	ENSG00000197165	6799	6799	2.8.2.1	Sulfotransferases, cytosolic	11454	protein-coding gene	gene with protein product		601292		STP2	NA	8661000, 8912648	Standard	NM_001054	NM_001054	NA	Approved	HAST4	uc002dqh.2	P50226	OTTHUMG00000048082	ENST00000533150.1:c.458-964G>T	16.37:g.28604766C>A		NA	A9QY25|P78393|Q14CJ7	37		.	.	.	.	.	.	.	.	.	.	c	15.58	2.875264	0.51695	.	.	ENSG00000197165	ENST00000335715;ENST00000395630;ENST00000526384	.	.	.	4.6	-9.2	0.00682	.	0.747635	0.12823	N	0.436265	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4016	0.32590	0.0:0.1891:0.2499:0.561	.	.	.	.	X	166	.	ENSP00000338742:E166X	E	-	1	0	SULT1A2	28512267	0.002000	0.14202	0.826000	0.32828	0.145000	0.21501	-0.098000	0.11024	-1.320000	0.02283	-0.300000	0.09419	GAA	SULT1A2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000395195.1		-	ENST00000533150.1	Intron	SNP	16 : 28604766 - 28604766 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	427	94
PLCL1	5334	broad.mit.edu	37	2	199011668	199011668	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:199011668G>A	ENST00000428675.1	+	6	3668	c.3270G>A	c.(3268-3270)gaG>gaA	p.E1090E	PLCL1_ENST00000437704.2_Silent_p.E992E	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	1090					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AAAGTAGTGAGGAGAATGGGA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	68	75			NA	NA	2		NA											NA				199011668		2203	4300	6503	SO:0001819	synonymous_variant			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896	5334	5334			9063	protein-coding gene	gene with protein product	phospholipase C related, but catalytically inactive protein, protein phosphatase 1, regulatory subunit 127	600597	phospholipase C, epsilon	PLCE	NA	7633416	Standard	NM_006226	NM_006226	NA	Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.3270G>A	2.37:g.199011668G>A		NA	Q3MJ90|Q53SD3|Q7Z3S3	37	CCDS2326.2																																																																																			PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340210.1		+	ENST00000428675.1	Silent	SNP	2 : 199011668 - 199011668 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	205	32
CHRAC1	54108	broad.mit.edu	37	8	141524478	141524478	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141524478T>G	ENST00000220913.5	+	2	360	c.158T>G	c.(157-159)gTt>gGt	p.V53G	CHRAC1_ENST00000519533.1_Intron	NM_017444.5	NP_059140.1	Q9NRG0	CHRC1_HUMAN	chromatin accessibility complex 1	53					chromatin remodeling	chromatin accessibility complex|epsilon DNA polymerase complex	DNA-directed DNA polymerase activity|sequence-specific DNA binding			ovary(2)	2	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			GAGCTCTTTGTTCAATGCCTA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	51	53			NA	NA	8		NA											NA				141524478		2203	4300	6503	SO:0001583	missense			AF226076	CCDS6379.1	8q24.3	2008-08-07				ENSG00000104472	54108	54108			13544	protein-coding gene	gene with protein product	histone-fold protein CHRAC15	607268			NA	10880450, 11000277	Standard	NM_017444	NM_017444	NA	Approved	CHRAC15, YCL1	uc003yvl.3	Q9NRG0		ENST00000220913.5:c.158T>G	8.37:g.141524478T>G	ENSP00000220913:p.Val53Gly	NA		37	CCDS6379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.0|22.0	4.236441|4.236441	0.79800|0.79800	.|.	.|.	ENSG00000104472|ENSG00000104472	ENST00000519618|ENST00000220913;ENST00000518971	.|T;T	.|0.52057	.|0.78;0.68	5.63|5.63	5.63|5.63	0.86233|0.86233	.|Histone-fold (2);Transcription factor CBF/NF-Y/archaeal histone (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75852|0.75852	0.3906|0.3906	M|M	0.92077|0.92077	3.27|3.27	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.80764	.|0.994	T|T	0.82564|0.82564	-0.0394|-0.0394	5|10	.|0.87932	.|D	.|0	-13.1144|-13.1144	15.4899|15.4899	0.75597|0.75597	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|53	.|Q9NRG0	.|CHRC1_HUMAN	V|G	19|53;40	.|ENSP00000220913:V53G;ENSP00000430484:V40G	.|ENSP00000220913:V53G	F|V	+|+	1|2	0|0	CHRAC1|CHRAC1	141593660|141593660	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.900000|0.900000	0.52787|0.52787	6.923000|6.923000	0.75817|0.75817	2.133000|2.133000	0.65898|0.65898	0.533000|0.533000	0.62120|0.62120	TTC|GTT	CHRAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377816.1		+	ENST00000220913.5	Missense_Mutation	SNP	8 : 141524478 - 141524478 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	252	44
NDOR1	27158	broad.mit.edu	37	9	140109572	140109572	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140109572C>A	ENST00000371521.4	+	9	1174	c.1091C>A	c.(1090-1092)gCt>gAt	p.A364D	NDOR1_ENST00000344894.5_Missense_Mutation_p.A364D|NDOR1_ENST00000458322.2_Missense_Mutation_p.A364D|NDOR1_ENST00000427047.2_Missense_Mutation_p.A330D	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	364	FAD-binding FR-type.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CCGCACACAGCTGCCGCCATC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	65	71			NA	NA	9		NA											NA				140109572		2202	4300	6502	SO:0001583	missense			BC015735	CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1	9q34.3	2008-02-05			ENSG00000188566	ENSG00000188566	27158	27158			29838	protein-coding gene	gene with protein product	NADPH dependent FMN and FAD containing oxidoreductase	606073			NA	10625700, 12631275	Standard	NM_014434	XM_005266066	NA	Approved	NR1, bA350O14.9	uc004clx.3	Q9UHB4	OTTHUMG00000020986	ENST00000371521.4:c.1091C>A	9.37:g.140109572C>A	ENSP00000360576:p.Ala364Asp	NA	Q5VSG4|Q86US9|Q96BC6	37	CCDS48061.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.503587	0.64298	.	.	ENSG00000188566	ENST00000458322;ENST00000427047;ENST00000371521;ENST00000344894	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	4.57	4.57	0.56435	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.055734	0.64402	D	0.000001	T	0.71913	0.3396	L	0.56769	1.78	0.44908	D	0.997925	D;B;P;D	0.53151	0.958;0.367;0.948;0.958	P;B;P;P	0.57468	0.821;0.14;0.726;0.821	T	0.73943	-0.3823	10	0.49607	T	0.09	-13.2222	16.2661	0.82579	0.0:1.0:0.0:0.0	.	364;330;364;364	D3YTG6;D3YTH9;Q9UHB4-2;Q9UHB4	.;.;.;NDOR1_HUMAN	D	364;330;364;364	ENSP00000389905:A364D;ENSP00000394309:A330D;ENSP00000360576:A364D;ENSP00000343344:A364D	ENSP00000343344:A364D	A	+	2	0	NDOR1	139229393	0.971000	0.33674	0.051000	0.19133	0.087000	0.18053	4.374000	0.59543	2.249000	0.74217	0.561000	0.74099	GCT	NDOR1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055326.2		+	ENST00000371521.4	Missense_Mutation	SNP	9 : 140109572 - 140109572 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	161	7
STK35	140901	broad.mit.edu	37	20	2097346	2097346	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2097346C>T	ENST00000381482.3	+	3	1198	c.927C>T	c.(925-927)tgC>tgT	p.C309C	STK35_ENST00000246032.3_Silent_p.C176C|STK35_ENST00000400064.3_Intron			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	309	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity			large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						AGGAGCCCTGCTATCTCTGGT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													193	183	186			NA	NA	20		NA											NA				2097346		2203	4300	6503	SO:0001819	synonymous_variant			AL359916	CCDS13024.1, CCDS13024.2	20p13	2008-07-02			ENSG00000125834	ENSG00000125834	140901	140901			16254	protein-coding gene	gene with protein product	CLP-36 interacting kinase	609370			NA	11973348	Standard	NM_080836	NM_080836	NA	Approved	bA550O8.2, CLIK1	uc002wfw.4	Q8TDR2	OTTHUMG00000031688	ENST00000381482.3:c.927C>T	20.37:g.2097346C>T		NA	B2RBM3|C7ENV8|Q2NKW6|Q5T3R1|Q5T3R2|Q96AB4|Q9BZ06	37	CCDS13024.2																																																																																			STK35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077574.3		+	ENST00000381482.3	Silent	SNP	20 : 2097346 - 2097346 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	670	129
HESX1	8820	broad.mit.edu	37	3	57232919	57232919	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57232919G>A	ENST00000473921.1	-	2	238	c.219C>T	c.(217-219)agC>agT	p.S73S	HESX1_ENST00000295934.3_Silent_p.S73S			Q9UBX0	HESX1_HUMAN	HESX homeobox 1	73						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)		GATCCACCACGCTAGGGAATG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(84;267 1272 9034 48993 52677)							NA				0													185	208	200			NA	NA	3		NA											NA				57232919		2203	4300	6503	SO:0001819	synonymous_variant			AF059734	CCDS2881.1	3p14.3	2014-06-16	2007-02-16		ENSG00000163666	ENSG00000163666	8820	8820		Homeoboxes / PRD class	4877	protein-coding gene	gene with protein product		601802	homeobox, ES cell expressed 1		NA	9373136, 9620767, 7876132	Standard		NM_003865	NA	Approved	RPX, ANF	uc003din.4	Q9UBX0	OTTHUMG00000158597	ENST00000473921.1:c.219C>T	3.37:g.57232919G>A		NA	Q52LC5|Q99667	37																																																																																				HESX1-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000351431.1		-	ENST00000473921.1	Silent	SNP	3 : 57232919 - 57232919 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1716	315
ZBTB44	29068	broad.mit.edu	37	11	130106855	130106855	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130106855G>A	ENST00000357899.4	-	5	1673	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	ZBTB44_ENST00000530205.1_Intron|ZBTB44_ENST00000525842.1_Intron|ZBTB44_ENST00000397753.1_Silent_p.F467F			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		TATATTCCCCGAAGGAAGTGA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	54	54			NA	NA	11		NA											NA				130106855		1981	4164	6145	SO:0001819	synonymous_variant			AK024659	CCDS44776.1, CCDS73414.1, CCDS73415.1	11q24.3	2013-01-08	2006-09-19	2006-09-19		ENSG00000196323	29068	29068		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	25001	protein-coding gene	gene with protein product			BTB (POZ) domain containing 15	BTBD15	NA	11042152	Standard	NM_014155	NM_014155	NA	Approved	HSPC063, ZNF851	uc001qgb.4	Q8NCP5		ENST00000357899.4:c.1401C>T	11.37:g.130106855G>A		NA	Q6IPT8|Q86VJ7|Q86XX5	37		.	.	.	.	.	.	.	.	.	.	G	9.352	1.065764	0.20067	.	.	ENSG00000196323	ENST00000527478	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	T	0.75606	0.3872	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73313	-0.4022	4	.	.	.	.	19.6651	0.95890	0.0:0.0:1.0:0.0	.	.	.	.	W	446	.	.	R	-	1	2	ZBTB44	129612065	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.378000	0.97191	2.722000	0.93159	0.650000	0.86243	CGG	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000386126.1		-	ENST00000357899.4	Silent	SNP	11 : 130106855 - 130106855 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	107	33
MYH11	4629	broad.mit.edu	37	16	15829434	15829434	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15829434G>T	ENST00000452625.2	-	27	3403	c.3316C>A	c.(3316-3318)Ctt>Att	p.L1106I	MYH11_ENST00000300036.5_Splice_Site_p.L1099I|MYH11_ENST00000396324.3_Splice_Site_p.L1106I|MYH11_ENST00000576790.2_Splice_Site_p.L1099I	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1099					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCATCGTCAAGCCTTCCAGGG	0.542		NA	T	CBFB	AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		16	16p13.13-p13.12	4629	myosin, heavy polypeptide 11, smooth muscle		L	0													57	60	59			NA	NA	16		NA											NA				15829434		2197	4300	6497	SO:0001630	splice_region_variant			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392	4629	4629		Myosins / Myosin superfamily : Class II	7569	protein-coding gene	gene with protein product		160745	myosin, heavy polypeptide 11, smooth muscle		NA	7684189	Standard	NM_001040113	NM_001040113	NA	Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000452625.2:c.3315-1C>A	16.37:g.15829434G>T		NA	O00396|O94944|P78422	37	CCDS45424.1	.	.	.	.	.	.	.	.	.	.	G	6.979	0.550723	0.13374	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1	5.51	5.51	0.81932	Myosin tail (1);	0.000000	0.64402	D	0.000002	T	0.78464	0.4287	N	0.20986	0.625	0.53005	D	0.999961	B;B;B;B;B	0.11235	0.002;0.004;0.004;0.002;0.002	B;B;B;B;B	0.18263	0.021;0.02;0.02;0.02;0.012	T	0.72357	-0.4318	10	0.02654	T	1	.	18.4136	0.90561	0.0:0.0:1.0:0.0	.	1106;1099;1106;1099;1106	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	I	1099;1099;1106;1106;1106	ENSP00000300036:L1099I;ENSP00000345136:L1099I;ENSP00000379616:L1106I;ENSP00000407821:L1106I	ENSP00000300036:L1099I	L	-	1	0	MYH11	15736935	1.000000	0.71417	0.996000	0.52242	0.437000	0.31866	1.568000	0.36418	2.593000	0.87608	0.442000	0.29010	CTT	MYH11-013	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000436647.2	Missense_Mutation	-	ENST00000452625.2	Splice_Site	SNP	16 : 15829434 - 15829434 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	510	102
GAB2	9846	broad.mit.edu	37	11	77931441	77931441	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77931441G>A	ENST00000361507.4	-	9	1896	c.1811C>T	c.(1810-1812)gCc>gTc	p.A604V	GAB2_ENST00000340149.2_Missense_Mutation_p.A566V	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	604					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CTTCTTAGGGGCAGGACTGTT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	76	77			NA	NA	11		NA											NA				77931441		2200	4292	6492	SO:0001583	missense			AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327	9846	9846		Pleckstrin homology (PH) domain containing	14458	protein-coding gene	gene with protein product	Grb2-associated binder 2	606203			NA	10391903, 10068651	Standard	NM_080491	NM_080491	NA	Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1811C>T	11.37:g.77931441G>A	ENSP00000354952:p.Ala604Val	NA	A2RRM2|A6NEW9|A7MD36|O60317	37	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.205475	0.58234	.	.	ENSG00000033327	ENST00000340149;ENST00000361507	T;T	0.19806	2.12;2.12	5.61	5.61	0.85477	.	0.067531	0.64402	U	0.000018	T	0.40979	0.1139	M	0.69823	2.125	0.80722	D	1	D	0.67145	0.996	P	0.60609	0.877	T	0.18429	-1.0337	10	0.07325	T	0.83	-25.4457	20.0018	0.97417	0.0:0.0:1.0:0.0	.	604	Q9UQC2	GAB2_HUMAN	V	566;604	ENSP00000343959:A566V;ENSP00000354952:A604V	ENSP00000343959:A566V	A	-	2	0	GAB2	77609089	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.388000	0.97237	2.793000	0.96121	0.655000	0.94253	GCC	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391085.1		-	ENST00000361507.4	Missense_Mutation	SNP	11 : 77931441 - 77931441 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	68
DOCK2	1794	broad.mit.edu	37	5	169138991	169138991	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169138991G>A	ENST00000520908.1	+	3	279	c.115G>A	c.(115-117)Gac>Aac	p.D39N	DOCK2_ENST00000256935.8_Missense_Mutation_p.R512Q|DOCK2_ENST00000540750.1_5'UTR			Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	548	SH3.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCATGTTTCGACATCGGTCA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													203	171	182			NA	NA	5		NA											NA				169138991		2203	4300	6503	SO:0001583	missense			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516	1794	1794			2988	protein-coding gene	gene with protein product		603122	dedicator of cyto-kinesis 2		NA		Standard	NM_004946	NM_004946	NA	Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000520908.1:c.115G>A	5.37:g.169138991G>A	ENSP00000429283:p.Asp39Asn	NA	Q2M3I0|Q96AK7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.340564|5.340564	0.95783|0.95783	.|.	.|.	ENSG00000134516|ENSG00000134516	ENST00000520908|ENST00000256935;ENST00000343291	T|T	0.07327|0.13778	3.2|2.56	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.44180|0.44180	0.1281|0.1281	M|M	0.83603|0.83603	2.65|2.65	0.80722|0.80722	D|D	1|1	P|D;D	0.36483|0.89917	0.555|1.0;1.0	B|D;D	0.28553|0.87578	0.091|0.996;0.998	T|T	0.43845|0.43845	-0.9366|-0.9366	9|10	0.30078|0.66056	T|D	0.28|0.02	.|.	19.3773|19.3773	0.94517|0.94517	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	39|512;512	E7ERW7|E5RFJ0;Q92608	.|.;DOCK2_HUMAN	N|Q	39|512;30	ENSP00000429283:D39N|ENSP00000256935:R512Q	ENSP00000429283:D39N|ENSP00000256935:R512Q	D|R	+|+	1|2	0|0	DOCK2|DOCK2	169071569|169071569	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.956000|7.956000	0.87863|0.87863	2.577000|2.577000	0.86979|0.86979	0.655000|0.655000	0.94253|0.94253	GAC|CGA	DOCK2-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000371643.1		+	ENST00000520908.1	Missense_Mutation	SNP	5 : 169138991 - 169138991 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	572	100
FUBP3	8939	broad.mit.edu	37	9	133501820	133501820	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133501820G>A	ENST00000319725.9	+	12	1120	c.1045G>A	c.(1045-1047)Gga>Aga	p.G349R		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	349					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		CTGGAGCGTGGGAGCCCCTGG	0.602		NA									OREG0019546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	60	57			NA	NA	9		NA											NA				133501820		2060	4219	6279	SO:0001583	missense			U69127	CCDS43893.1	9q34.11	2008-02-05			ENSG00000107164	ENSG00000107164	8939	8939			4005	protein-coding gene	gene with protein product		603536		FBP3	NA	8940189	Standard		NM_003934	NA	Approved		uc004bzr.1	Q96I24	OTTHUMG00000020809	ENST00000319725.9:c.1045G>A	9.37:g.133501820G>A	ENSP00000318177:p.Gly349Arg	1603	A3KFL0|Q92946|Q9BVB6	37	CCDS43893.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224625	0.79576	.	.	ENSG00000107164	ENST00000319725	T	0.54675	0.56	5.67	5.67	0.87782	.	0.052210	0.85682	D	0.000000	T	0.63105	0.2483	M	0.71206	2.165	0.80722	D	1	D;D	0.54601	0.967;0.967	P;P	0.54270	0.747;0.747	T	0.62854	-0.6766	10	0.40728	T	0.16	-16.8512	12.112	0.53844	0.0774:0.0:0.9226:0.0	.	349;349	A3KFK8;Q96I24	.;FUBP3_HUMAN	R	349	ENSP00000318177:G349R	ENSP00000318177:G349R	G	+	1	0	FUBP3	132491641	1.000000	0.71417	0.991000	0.47740	0.873000	0.50193	8.055000	0.89453	2.677000	0.91161	0.655000	0.94253	GGA	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054666.1		+	ENST00000319725.9	Missense_Mutation	SNP	9 : 133501820 - 133501820 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	191	36
OR2M5	127059	broad.mit.edu	37	1	248308961	248308961	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248308961C>A	ENST00000366476.1	+	1	512	c.512C>A	c.(511-513)tCt>tAt	p.S171Y		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TACTGTGGGTCTCGGGAAATA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													282	266	271			NA	NA	1		NA											NA				248308961		2203	4298	6501	SO:0001583	missense				CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727	127059	127059		GPCR / Class A : Olfactory receptors	19576	protein-coding gene	gene with protein product				OR2M5P	NA		Standard	NM_001004690	NM_001004690	NA	Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.512C>A	1.37:g.248308961C>A	ENSP00000355432:p.Ser171Tyr	NA		37	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	c	19.29	3.799247	0.70567	.	.	ENSG00000162727	ENST00000366476	T	0.38722	1.12	3.28	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	0.879412	0.09254	U	0.827497	T	0.69160	0.3080	M	0.92691	3.335	0.09310	N	1	D	0.53312	0.959	P	0.62649	0.905	T	0.55134	-0.8188	10	0.87932	D	0	.	10.0254	0.42068	0.0:0.8936:0.0:0.1064	.	171	A3KFT3	OR2M5_HUMAN	Y	171	ENSP00000355432:S171Y	ENSP00000355432:S171Y	S	+	2	0	OR2M5	246375584	0.000000	0.05858	0.000000	0.03702	0.908000	0.53690	1.011000	0.29911	0.476000	0.27440	0.492000	0.49549	TCT	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097343.1		+	ENST00000366476.1	Missense_Mutation	SNP	1 : 248308961 - 248308961 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2054	257
VIL1	7429	broad.mit.edu	37	2	219295496	219295496	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219295496C>T	ENST00000248444.5	+	10	1085	c.997C>T	c.(997-999)Cag>Tag	p.Q333*	VIL1_ENST00000392114.2_Nonsense_Mutation_p.Q22*|VIL1_ENST00000440053.1_Nonsense_Mutation_p.Q333*	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	333	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTGGAGGTGCAGAATGATGG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	76	79			NA	NA	2		NA											NA				219295496		2203	4300	6503	SO:0001587	stop_gained			X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831	7429	7429			12690	protein-coding gene	gene with protein product		193040		VIL	NA	2846586	Standard	NM_007127	NM_007127	NA	Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.997C>T	2.37:g.219295496C>T	ENSP00000248444:p.Gln333*	NA	B2R9A7	37	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.401785	0.62288	.	.	ENSG00000127831	ENST00000248444;ENST00000392114;ENST00000440053	.	.	.	4.13	4.13	0.48395	.	0.173549	0.36303	N	0.002661	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-21.7601	11.3415	0.49535	0.0:0.6425:0.3575:0.0	.	.	.	.	X	333;22;333	.	ENSP00000248444:Q333X	Q	+	1	0	VIL1	219003740	1.000000	0.71417	1.000000	0.80357	0.449000	0.32228	2.972000	0.49256	2.154000	0.67381	0.462000	0.41574	CAG	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256778.3		+	ENST00000248444.5	Nonsense_Mutation	SNP	2 : 219295496 - 219295496 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	427	24
MAPK9	5601	broad.mit.edu	37	5	179666973	179666973	+	Silent	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179666973A>T	ENST00000347470.4	-	8	1047	c.756T>A	c.(754-756)atT>atA	p.I252I	MAPK9_ENST00000455781.1_Silent_p.I337I|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000343111.6_Silent_p.I337I|MAPK9_ENST00000452135.2_Silent_p.I337I|MAPK9_ENST00000393360.3_Silent_p.I337I			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	337	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|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	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCATCATAAATTTGAGGTG	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	143	146			NA	NA	5		NA											NA				179666973		2203	4300	6503	SO:0001819	synonymous_variant			U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	5601	5601	2.7.11.1	Mitogen-activated protein kinase cascade / Kinases	6886	protein-coding gene	gene with protein product	Jun kinase	602896		PRKM9	NA	8001819	Standard		NM_002752	NA	Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000347470.4:c.756T>A	5.37:g.179666973A>T		NA	A8K0S3|B5BU66|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	37																																																																																				MAPK9-006	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000373944.1		-	ENST00000347470.4	Silent	SNP	5 : 179666973 - 179666973 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	470	82
SLC2A14	144195	broad.mit.edu	37	12	7985383	7985383	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7985383T>C	ENST00000543909.1	-	8	874	c.115A>G	c.(115-117)Aca>Gca	p.T39A	SLC2A14_ENST00000431042.2_Missense_Mutation_p.T16A|SLC2A14_ENST00000396589.2_Missense_Mutation_p.T39A|SLC2A14_ENST00000542546.1_5'UTR|SLC2A14_ENST00000340749.5_Missense_Mutation_p.T16A|SLC2A14_ENST00000539924.1_Missense_Mutation_p.T54A|SLC2A14_ENST00000535295.1_5'UTR|SLC2A14_ENST00000542505.1_Intron			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	39					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GTAGCAACTGTGATGGCAAAG	0.453		NA									OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	93	96			NA	NA	12		NA											NA				7985383		2203	4300	6503	SO:0001583	missense			AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262	144195	144195		Solute carriers	18301	protein-coding gene	gene with protein product		611039	solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3	SLC2A3P3	NA	12504846	Standard	NM_153449	NM_001286234	NA	Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.115A>G	12.37:g.7985383T>C	ENSP00000440480:p.Thr39Ala	645	B3KVB5|B3KWW7|Q6UY84|Q8TDB9	37	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	C	9.396	1.076820	0.20227	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000539924;ENST00000546234;ENST00000542782;ENST00000535344;ENST00000537557;ENST00000535266;ENST00000542916;ENST00000535383;ENST00000535587	T;T;T;T;T;T;T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83	2.45	-4.91	0.03085	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.714646	0.13364	N	0.393459	T	0.42607	0.1210	N	0.05592	-0.015	0.09310	N	0.999999	B;B;B	0.14012	0.009;0.001;0.001	B;B;B	0.11329	0.006;0.004;0.006	T	0.37009	-0.9724	10	0.11182	T	0.66	.	4.7116	0.12875	0.6321:0.1178:0.0:0.2501	.	54;16;39	B7ZAC3;Q8TDB8-2;Q8TDB8	.;.;GTR14_HUMAN	A	16;39;16;39;54;16;16;16;39;39;16;16;16	ENSP00000340450:T16A;ENSP00000440480:T39A;ENSP00000407287:T16A;ENSP00000379834:T39A;ENSP00000445929:T54A;ENSP00000440043:T16A;ENSP00000438312:T16A;ENSP00000443217:T16A;ENSP00000440044:T39A;ENSP00000437653:T39A;ENSP00000442402:T16A;ENSP00000443076:T16A	ENSP00000340450:T16A	T	-	1	0	SLC2A14	7876650	0.000000	0.05858	0.003000	0.11579	0.894000	0.52154	-0.909000	0.04058	-1.551000	0.01706	-0.879000	0.02964	ACA	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399836.2		-	ENST00000543909.1	Missense_Mutation	SNP	12 : 7985383 - 7985383 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	13
MFSD2B	388931	broad.mit.edu	37	2	24239805	24239805	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24239805G>A	ENST00000406420.3	+	4	454	c.438G>A	c.(436-438)acG>acA	p.T146T	MFSD2B_ENST00000338315.4_Silent_p.T146T	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	146					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						TCTGGTACACGACTTTCTACT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	71	70			NA	NA	2		NA											NA				24239805		2024	4170	6194	SO:0001819	synonymous_variant				CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639	388931	388931			37207	protein-coding gene	gene with protein product					NA	18694395	Standard	NM_001080473	NM_001080473	NA	Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.438G>A	2.37:g.24239805G>A		NA	B5MC32	37	CCDS46228.1																																																																																			MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324307.1		+	ENST00000406420.3	Silent	SNP	2 : 24239805 - 24239805 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	433	65
FPGS	2356	broad.mit.edu	37	9	130575822	130575822	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130575822C>T	ENST00000373225.3	+	15	1762	c.1553C>T	c.(1552-1554)aCt>aTt	p.T518I	FPGS_ENST00000373245.1_3'UTR|FPGS_ENST00000373247.2_Missense_Mutation_p.T568I|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000393706.2_Missense_Mutation_p.T542I	NM_001018078.1	NP_001018088.1	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	568					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	GTGCTAGTCACTGGCAGCCTG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	46	47			NA	NA	9		NA											NA				130575822		2203	4300	6503	SO:0001583	missense				CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	2356	2356	6.3.2.17		3824	protein-coding gene	gene with protein product		136510			NA		Standard		NM_004957	NA	Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373225.3:c.1553C>T	9.37:g.130575822C>T	ENSP00000362322:p.Thr518Ile	NA	Q5JU22|Q6P2P6	37	CCDS35149.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939028	0.92526	.	.	ENSG00000136877	ENST00000373247;ENST00000393706;ENST00000373225	T;T;T	0.23147	2.22;2.21;1.92	5.33	5.33	0.75918	Mur ligase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65249	0.2673	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.77101	-0.2712	10	0.87932	D	0	-15.9135	17.9954	0.89182	0.0:1.0:0.0:0.0	.	542;568	Q05932-4;Q05932	.;FOLC_HUMAN	I	568;542;518	ENSP00000362344:T568I;ENSP00000377309:T542I;ENSP00000362322:T518I	ENSP00000362322:T518I	T	+	2	0	FPGS	129615643	1.000000	0.71417	0.968000	0.41197	0.961000	0.63080	7.355000	0.79434	2.481000	0.83766	0.655000	0.94253	ACT	FPGS-012	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054252.2		+	ENST00000373225.3	Missense_Mutation	SNP	9 : 130575822 - 130575822 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	352	61
GSK3B	2932	broad.mit.edu	37	3	119812208	119812208	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119812208C>T	ENST00000264235.8	-	1	1056	c.74G>A	c.(73-75)aGc>aAc	p.S25N	GSK3B_ENST00000316626.5_Missense_Mutation_p.S25N	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	25					axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	AACTTTCATGCTGCCAAAAGC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	112	110			NA	NA	3		NA											NA				119812208		2203	4300	6503	SO:0001583	missense			BC012760	CCDS2996.1, CCDS54628.1	3q13.3	2008-02-15			ENSG00000082701	ENSG00000082701	2932	2932			4617	protein-coding gene	gene with protein product		605004			NA	10486203	Standard		NM_002093	NA	Approved		uc003edm.3	P49841	OTTHUMG00000133765	ENST00000264235.8:c.74G>A	3.37:g.119812208C>T	ENSP00000264235:p.Ser25Asn	NA	D3DN89|Q9BWH3|Q9UL47	37	CCDS54628.1	.	.	.	.	.	.	.	.	.	.	C	9.109	1.006165	0.19199	.	.	ENSG00000082701	ENST00000264235;ENST00000316626	T;T	0.59906	0.23;0.28	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.41811	0.1175	N	0.19112	0.55	0.58432	D	0.999998	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25082	-1.0142	10	0.20046	T	0.44	-7.0844	15.0088	0.71533	0.0:1.0:0.0:0.0	.	25;25	P49841;P49841-2	GSK3B_HUMAN;.	N	25	ENSP00000264235:S25N;ENSP00000324806:S25N	ENSP00000264235:S25N	S	-	2	0	GSK3B	121294898	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.014000	0.76380	2.118000	0.64928	0.551000	0.68910	AGC	GSK3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258240.2		-	ENST00000264235.8	Missense_Mutation	SNP	3 : 119812208 - 119812208 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	472	81
MRE11A	4361	broad.mit.edu	37	11	94192582	94192582	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94192582C>T	ENST00000323929.3	-	13	1714	c.1492G>A	c.(1492-1494)Gat>Aat	p.D498N	MRE11A_ENST00000323977.3_Missense_Mutation_p.D498N|MRE11A_ENST00000393241.4_Missense_Mutation_p.D498N|MRE11A_ENST00000407439.3_Missense_Mutation_p.D501N	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	498					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				ACCTCCTCATCGATTTTGTCT	0.358		NA						Homologous recombination	Ataxia-Telangiectasia-Like Disorder					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	148	150			NA	NA	11		NA											NA				94192582		2201	4298	6499	SO:0001583	missense	Familial Cancer Database	ATLD	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922	4361	4361			7230	protein-coding gene	gene with protein product	AT-like disease	600814	meiotic recombination (S. cerevisiae) 11 homolog A	MRE11	NA	8530104	Standard	NM_005591	XM_005274007	NA	Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.1492G>A	11.37:g.94192582C>T	ENSP00000325863:p.Asp498Asn	NA	O43475	37	CCDS8299.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273580	0.59649	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000323977;ENST00000393241	T;T;T;T	0.75821	-0.97;-0.97;-0.95;-0.97	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.73845	0.3639	M	0.61703	1.905	0.80722	D	1	B;B;B	0.21753	0.06;0.058;0.06	B;B;B	0.19148	0.016;0.024;0.022	T	0.67608	-0.5627	10	0.30854	T	0.27	-27.8191	20.0493	0.97618	0.0:1.0:0.0:0.0	.	501;498;498	B3KTC7;P49959-2;P49959	.;.;MRE11_HUMAN	N	498;501;498;498	ENSP00000325863:D498N;ENSP00000385614:D501N;ENSP00000326094:D498N;ENSP00000376933:D498N	ENSP00000325863:D498N	D	-	1	0	MRE11A	93832230	1.000000	0.71417	0.998000	0.56505	0.287000	0.27160	7.695000	0.84257	2.745000	0.94114	0.491000	0.48974	GAT	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396237.3		-	ENST00000323929.3	Missense_Mutation	SNP	11 : 94192582 - 94192582 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	419	64
PRAM1	84106	broad.mit.edu	37	19	8555100	8555100	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8555100T>G	ENST00000423345.4	-	10	2506	c.1986A>C	c.(1984-1986)gaA>gaC	p.E662D	PRAM1_ENST00000255612.3_Missense_Mutation_p.E661D			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	710	SH3.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GTGGTTGGTTTTCCAGGGGAT	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	36	33			NA	NA	19		NA											NA				8555100		2173	4286	6459	SO:0001583	missense			BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246	84106	84106			30091	protein-coding gene	gene with protein product		606466			NA	11301322, 15572693	Standard	NM_032152	NM_032152	NA	Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.1986A>C	19.37:g.8555100T>G	ENSP00000408342:p.Glu662Asp	NA	Q8N6W7	37	CCDS45954.2	.	.	.	.	.	.	.	.	.	.	T	9.595	1.127164	0.20959	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.15718	2.4;2.4	3.65	-7.31	0.01441	.	0.213794	0.23524	N	0.047246	T	0.04952	0.0133	N	0.12182	0.205	0.09310	N	1	B;B	0.18013	0.01;0.025	B;B	0.18561	0.015;0.022	T	0.19778	-1.0295	10	0.22109	T	0.4	.	1.7729	0.03016	0.1194:0.182:0.3141:0.3845	.	662;710	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	D	661;662	ENSP00000255612:E661D;ENSP00000408342:E662D	ENSP00000255612:E661D	E	-	3	2	PRAM1	8461100	0.007000	0.16637	0.009000	0.14445	0.036000	0.12997	-0.959000	0.03853	-1.379000	0.02118	-0.464000	0.05259	GAA	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397040.3		-	ENST00000423345.4	Missense_Mutation	SNP	19 : 8555100 - 8555100 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	90	22
SMG6	23293	broad.mit.edu	37	17	2076037	2076037	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2076037A>G	ENST00000263073.6	-	13	3322	c.3272T>C	c.(3271-3273)cTg>cCg	p.L1091P	SMG6_ENST00000536871.2_Missense_Mutation_p.L183P|SMG6_ENST00000544865.1_Missense_Mutation_p.L1060P|SMG6_ENST00000354901.4_Missense_Mutation_p.L183P	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	NA					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ATCCTCTTCCAGGATAAGAAG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(59;28 1088 11621 25887 46638 50814)							NA				0													117	98	105			NA	NA	17		NA											NA				2076037		2203	4300	6503	SO:0001583	missense			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366	23293	23293			17809	protein-coding gene	gene with protein product	EST1 telomerase component homolog A (S. cerevisiae)	610963	chromosome 17 open reading frame 31, smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)	C17orf31	NA	12676087, 12699629	Standard		NM_017575	NA	Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.3272T>C	17.37:g.2076037A>G	ENSP00000263073:p.Leu1091Pro	NA	O94837|Q86VH6|Q9UF60	37	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	A	16.83	3.231593	0.58777	.	.	ENSG00000070366	ENST00000263073;ENST00000544865;ENST00000536871	T;T;T	0.55413	0.52;0.52;0.52	6.02	4.95	0.65309	.	0.090669	0.46145	D	0.000312	T	0.56307	0.1976	M	0.82323	2.585	0.80722	D	1	B	0.29162	0.235	B	0.29524	0.103	T	0.58951	-0.7545	10	0.87932	D	0	-5.0247	10.8308	0.46659	0.929:0.0:0.071:0.0	.	1091	Q86US8	EST1A_HUMAN	P	1091;1060;183	ENSP00000263073:L1091P;ENSP00000443920:L1060P;ENSP00000440283:L183P	ENSP00000263073:L1091P	L	-	2	0	SMG6	2022787	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.128000	0.89595	1.108000	0.41662	0.448000	0.29417	CTG	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437826.3		-	ENST00000263073.6	Missense_Mutation	SNP	17 : 2076037 - 2076037 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	412	68
PDXDC1	23042	broad.mit.edu	37	16	15116568	15116568	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15116568G>A	ENST00000396410.4	+	13	1194	c.1097G>A	c.(1096-1098)cGg>cAg	p.R366Q	PDXDC1_ENST00000455313.2_Missense_Mutation_p.R343Q|PDXDC1_ENST00000569715.1_Missense_Mutation_p.R339Q|PDXDC1_ENST00000563679.1_Missense_Mutation_p.R384Q|PDXDC1_ENST00000447912.2_Missense_Mutation_p.R275Q|PDXDC1_ENST00000535621.2_Missense_Mutation_p.R366Q|PDXDC1_ENST00000450288.2_Missense_Mutation_p.R338Q|PDXDC1_ENST00000325823.7_Missense_Mutation_p.R351Q	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	366					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CAGAGTCAACGGTTGCAGGAA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	133	139			NA	NA	16		NA											NA				15116568		2197	4300	6497	SO:0001583	missense			AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05					23042	23042			28995	protein-coding gene	gene with protein product		614244			NA		Standard	NM_015027	XM_005255173	NA	Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.1097G>A	16.37:g.15116568G>A	ENSP00000379691:p.Arg366Gln	NA	O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	37	CCDS32393.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.411756	0.25465	.	.	ENSG00000179889	ENST00000325823;ENST00000447912;ENST00000535621;ENST00000396410;ENST00000450288;ENST00000537781;ENST00000455313	T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09	4.96	4.01	0.46588	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.175291	0.49916	D	0.000131	T	0.29061	0.0722	L	0.32530	0.975	0.31088	N	0.711142	B;B;B;B;B;B	0.20052	0.004;0.004;0.014;0.004;0.004;0.041	B;B;B;B;B;B	0.11329	0.002;0.003;0.003;0.003;0.002;0.006	T	0.21621	-1.0240	10	0.26408	T	0.33	-20.2729	9.0978	0.36649	0.167:0.0:0.833:0.0	.	338;275;366;338;366;343	E7EPL4;E7EMH5;Q86XE2;B4DR55;Q6P996;Q6P996-2	.;.;.;.;PDXD1_HUMAN;.	Q	351;275;366;366;338;72;343	ENSP00000322807:R351Q;ENSP00000400310:R275Q;ENSP00000437835:R366Q;ENSP00000379691:R366Q;ENSP00000391147:R338Q;ENSP00000406703:R343Q	ENSP00000322807:R351Q	R	+	2	0	PDXDC1	15024069	0.987000	0.35691	0.119000	0.21687	0.970000	0.65996	3.786000	0.55431	1.094000	0.41399	-0.350000	0.07774	CGG	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389065.2		+	ENST00000396410.4	Missense_Mutation	SNP	16 : 15116568 - 15116568 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	373	33
MAST4	375449	broad.mit.edu	37	5	66448536	66448536	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66448536C>T	ENST00000403625.2	+	25	3662	c.3367C>T	c.(3367-3369)Cga>Tga	p.R1123*	MAST4_ENST00000261569.7_Nonsense_Mutation_p.R929*|MAST4_ENST00000405643.1_Nonsense_Mutation_p.R944*|MAST4_ENST00000404260.3_Nonsense_Mutation_p.R1126*|MAST4_ENST00000403666.1_Nonsense_Mutation_p.R934*	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1126	Ser-rich.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TTCTTCTTCACGAGATTCCTC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	131	131			NA	NA	5		NA											NA				66448536		1936	4150	6086	SO:0001587	stop_gained			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020	375449	375449			19037	protein-coding gene	gene with protein product					NA	9205841	Standard		NM_198828	NA	Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.3367C>T	5.37:g.66448536C>T	ENSP00000385727:p.Arg1123*	NA	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	37	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	8.794146|8.794146	0.98956|0.98956	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399|ENST00000443808	.|.	.|.	.|.	6.17|6.17	3.31|3.31	0.37934|0.37934	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.69984	.|0.3172	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72947	.|-0.4137	.|3	0.02654|.	T|.	1|.	-14.7051|-14.7051	15.8853|15.8853	0.79244|0.79244	0.6069:0.3931:0.0:0.0|0.6069:0.3931:0.0:0.0	.|.	.|.	.|.	.|.	X|M	1126;1123;934;944;944;929;862|179	.|.	ENSP00000261569:R929X|.	R|T	+|+	1|2	2|0	MAST4|MAST4	66484292|66484292	0.660000|0.660000	0.27420|0.27420	0.775000|0.775000	0.31657|0.31657	0.995000|0.995000	0.86356|0.86356	1.386000|1.386000	0.34419|0.34419	0.400000|0.400000	0.25396|0.25396	0.655000|0.655000	0.94253|0.94253	CGA|ACG	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326324.2		+	ENST00000403625.2	Nonsense_Mutation	SNP	5 : 66448536 - 66448536 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	714	138
MITF	4286	broad.mit.edu	37	3	69928347	69928347	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69928347G>A	ENST00000352241.4	+	2	330	c.167G>A	c.(166-168)cGc>cAc	p.R56H	MITF_ENST00000314589.5_Missense_Mutation_p.R40H|MITF_ENST00000448226.2_Missense_Mutation_p.R56H|MITF_ENST00000394355.2_Missense_Mutation_p.R31H|MITF_ENST00000472437.1_Missense_Mutation_p.R4H|MITF_ENST00000328528.6_Missense_Mutation_p.R55H	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	56					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		ATGACATCACGCATCTTGCTA	0.557		NA	A		melanoma		Waardenburg syndrome type 2, Tietz syndrome							NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(29;269 969 31479 41502 42961)		Dom	yes		3	3p14.1	4286	microphthalmia-associated transcription factor	yes	E	0													46	53	51			NA	NA	3		NA											NA				69928347		2090	4230	6320	SO:0001583	missense				CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098	4286	4286		Basic helix-loop-helix proteins	7105	protein-coding gene	gene with protein product	homolog of mouse microphthalmia	156845	Waardenburg syndrome, type 2A	WS2A, WS2	NA	8069297, 7874167, 7951321	Standard	NM_198159	NM_198159	NA	Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000352241.4:c.167G>A	3.37:g.69928347G>A	ENSP00000295600:p.Arg56His	NA	Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	37	CCDS43106.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571489	0.86542	.	.	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000429090;ENST00000433517;ENST00000472437;ENST00000457080;ENST00000328528;ENST00000451708;ENST00000314589;ENST00000394355	T;T;T;T;T;T;T;T	0.63255	1.27;0.82;0.29;-0.03;0.12;0.59;1.41;0.32	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.82079	0.4959	M	0.83118	2.625	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.85130	0.98;0.997;0.997;0.997;0.991	T	0.81824	-0.0755	9	.	.	.	.	20.3052	0.98627	0.0:0.0:1.0:0.0	.	4;31;40;55;56	E9PFN0;O75030-4;O75030-8;O75030-6;O75030-2	.;.;.;.;.	H	56;56;4;4;4;55;55;40;40;31	ENSP00000295600:R56H;ENSP00000391803:R56H;ENSP00000418845:R4H;ENSP00000391276:R55H;ENSP00000327867:R55H;ENSP00000398639:R40H;ENSP00000324443:R40H;ENSP00000377884:R31H	.	R	+	2	0	MITF	70011037	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.434000	0.97515	2.814000	0.96858	0.650000	0.86243	CGC	MITF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313920.2		+	ENST00000352241.4	Missense_Mutation	SNP	3 : 69928347 - 69928347 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	65
NACA	4666	broad.mit.edu	37	12	57114403	57114403	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57114403G>T	ENST00000550952.1	-	3	949	c.911C>A	c.(910-912)tCt>tAt	p.S304Y	NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000454682.1_Missense_Mutation_p.S304Y|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron			Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AGAGCCCAGAGAAATGGGAAA	0.483		NA	T	BCL6	NHL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0													57	55	55			NA	NA	12		NA											NA				57114403		1568	3582	5150	SO:0001583	missense			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531	4666	4666			7629	protein-coding gene	gene with protein product		601234	nascent-polypeptide-associated complex alpha polypeptide		NA	8047162	Standard	NM_005594	NM_001113202	NA	Approved	NACA1	uc001sma.2	E9PAV3		ENST00000550952.1:c.911C>A	12.37:g.57114403G>T	ENSP00000448035:p.Ser304Tyr	NA	Q3KQV4|Q53A18|Q53G46	37	CCDS44925.2	.	.	.	.	.	.	.	.	.	.	g	10.65	1.410132	0.25465	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.61158	0.13;0.46	3.97	3.06	0.35304	.	.	.	.	.	T	0.36608	0.0973	N	0.08118	0	0.09310	N	1	B;B	0.18013	0.025;0.0	B;B	0.15484	0.013;0.004	T	0.31503	-0.9941	9	0.87932	D	0	.	9.2912	0.37789	0.0:0.0:0.7871:0.2128	.	304;304	E9PAV3;F8VU71	.;.	Y	304	ENSP00000403817:S304Y;ENSP00000448035:S304Y	ENSP00000403817:S304Y	S	-	2	0	NACA	55400670	0.068000	0.21057	0.168000	0.22838	0.050000	0.14768	1.158000	0.31737	0.667000	0.31107	-1.344000	0.01245	TCT	NACA-004	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407275.1		-	ENST00000550952.1	Missense_Mutation	SNP	12 : 57114403 - 57114403 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	288	49
IGSF9B	22997	broad.mit.edu	37	11	133790610	133790610	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133790610C>T	ENST00000533871.2	-	18	3240	c.3010G>A	c.(3010-3012)Gag>Aag	p.E1004K	IGSF9B_ENST00000321016.8_Missense_Mutation_p.E1004K	NM_001277285.1	NP_001264214.1	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1004	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		AAGGGCCCCTCGGTGGGCAGG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0									LYS/GLU	0,4100		0,0,2050	35	40	38		3010	4.9	0.9	11		38	1,8361		0,1,4180	no	missense	IGSF9B	NM_014987.1	56	0,1,6230	TT,TC,CC	NA	0.012,0.0,0.0080	probably-damaging	1004/1350	133790610	1,12461	2050	4181	6231	SO:0001583	missense			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20			22997	22997		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	32326	protein-coding gene	gene with protein product		613773			NA		Standard	XM_290502	NM_001277285	NA	Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000533871.2:c.3010G>A	11.37:g.133790610C>T	ENSP00000436552:p.Glu1004Lys	NA		37		.	.	.	.	.	.	.	.	.	.	c	25.2	4.611619	0.87258	0.0	1.2E-4	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.74526	-0.55;-0.85	4.93	4.93	0.64822	.	0.000000	0.45126	D	0.000395	T	0.65396	0.2687	L	0.27053	0.805	0.42717	D	0.993663	D	0.56968	0.978	B	0.41894	0.369	T	0.72360	-0.4317	10	0.59425	D	0.04	.	17.7942	0.88565	0.0:1.0:0.0:0.0	.	1004	Q9UPX0	TUTLB_HUMAN	K	1004;846	ENSP00000317980:E1004K;ENSP00000436552:E846K	ENSP00000317980:E1004K	E	-	1	0	IGSF9B	133295820	1.000000	0.71417	0.930000	0.37139	0.951000	0.60555	7.350000	0.79385	2.286000	0.76751	0.550000	0.68814	GAG	IGSF9B-002	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000471431.1		-	ENST00000533871.2	Missense_Mutation	SNP	11 : 133790610 - 133790610 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	65
LYSMD4	145748	broad.mit.edu	37	15	100271942	100271942	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100271942G>A	ENST00000344791.2	-	3	447	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000409796.1_Missense_Mutation_p.A88V|LYSMD4_ENST00000545021.1_5'UTR|LYSMD4_ENST00000332728.4_Missense_Mutation_p.A88V	NM_001284419.1|NM_152449.2	NP_001271348.1|NP_689662.2	Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	0					cell wall macromolecule catabolic process	integral to membrane				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			ATACTGCAGCGCCAGCTTGTT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	58	58			NA	NA	15		NA											NA				100271942		2203	4300	6503	SO:0001583	missense			BC041097	CCDS10381.1, CCDS66876.1, CCDS66877.1, CCDS73788.1	15q26.3	2005-10-24			ENSG00000183060	ENSG00000183060	145748	145748			26571	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152449	NM_001284418	NA	Approved	FLJ33008	uc002bvl.3	Q5XG99	OTTHUMG00000149853	ENST00000344791.2:c.175C>T	15.37:g.100271942G>A	ENSP00000342840:p.Arg59Cys	NA	A6NII6|A8K2N1|Q96LY7	37	CCDS10381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.153457|5.153457	0.94645|0.94645	.|.	.|.	ENSG00000183060|ENSG00000183060	ENST00000409796;ENST00000332728|ENST00000344791;ENST00000450512	T;T|T;T	0.57595|0.19105	0.39;0.39|2.17;2.17	5.03|5.03	5.03|5.03	0.67393|0.67393	Peptidoglycan-binding Lysin subgroup (1);|.	.|4.488390	.|0.00732	.|N	.|0.000950	T|T	0.17831|0.17831	0.0428|0.0428	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D|P	0.89917|0.52842	1.0|0.956	D|B	0.79784|0.39152	0.993|0.292	T|T	0.49437|0.49437	-0.8940|-0.8940	9|10	0.87932|0.72032	D|D	0|0.01	-23.904|-23.904	18.3844|18.3844	0.90462|0.90462	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	88|59	Q5XG99|Q5XG99-2	LYSM4_HUMAN|.	V|C	88|59	ENSP00000386283:A88V;ENSP00000333008:A88V|ENSP00000342840:R59C;ENSP00000400054:R59C	ENSP00000333008:A88V|ENSP00000342840:R59C	A|R	-|-	2|1	0|0	LYSMD4|LYSMD4	98089465|98089465	1.000000|1.000000	0.71417|0.71417	0.871000|0.871000	0.34182|0.34182	0.996000|0.996000	0.88848|0.88848	8.816000|8.816000	0.91979|0.91979	2.325000|2.325000	0.78763|0.78763	0.655000|0.655000	0.94253|0.94253	GCG|CGC	LYSMD4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313544.1		-	ENST00000344791.2	Missense_Mutation	SNP	15 : 100271942 - 100271942 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	438	47
WNT2B	7482	broad.mit.edu	37	1	113059807	113059807	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113059807G>A	ENST00000369686.5	+	5	793	c.689G>A	c.(688-690)cGc>cAc	p.R230H	WNT2B_ENST00000256640.5_Missense_Mutation_p.R157H|WNT2B_ENST00000369684.4_Missense_Mutation_p.R249H	NM_004185.3	NP_004176.2	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	NA					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTACTCTGCGCACCTGCTGG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	72	78			NA	NA	1		NA											NA				113059807		2203	4300	6503	SO:0001583	missense			AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245	7482	7482		Wingless-type MMTV integration sites	12781	protein-coding gene	gene with protein product	XWNT2, Xenopus, homolog of, wingless-type MMTV integration site family, member 13	601968		WNT13	NA	8761309, 10944466	Standard	NM_004185	NM_024494	NA	Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369686.5:c.689G>A	1.37:g.113059807G>A	ENSP00000358700:p.Arg230His	NA	O14903|Q5TEI2|Q9HDC1|Q9HDC2	37	CCDS846.1	.	.	.	.	.	.	.	.	.	.	G	31	5.060559	0.93846	.	.	ENSG00000134245	ENST00000256640;ENST00000369686;ENST00000369684	T;T;T	0.77620	-1.11;-1.11;-1.11	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.91379	0.7280	H	0.95816	3.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.93450	0.6801	10	0.87932	D	0	.	19.0601	0.93090	0.0:0.0:1.0:0.0	.	249;230	Q93097;Q93097-2	WNT2B_HUMAN;.	H	157;230;249	ENSP00000256640:R157H;ENSP00000358700:R230H;ENSP00000358698:R249H	ENSP00000256640:R157H	R	+	2	0	WNT2B	112861330	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.062000	0.89475	2.599000	0.87857	0.555000	0.69702	CGC	WNT2B-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000030691.2		+	ENST00000369686.5	Missense_Mutation	SNP	1 : 113059807 - 113059807 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	396	79
C18orf8	29919	broad.mit.edu	37	18	21106645	21106645	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21106645C>A	ENST00000590868.1	+	11	1061	c.961C>A	c.(961-963)Ctc>Atc	p.L321I	C18orf8_ENST00000269221.3_Missense_Mutation_p.L369I			Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	369										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CATAGTAAATCTCTTACCAGA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	83	85			NA	NA	18		NA											NA				21106645		2203	4300	6503	SO:0001583	missense			AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452	29919	29919			24326	protein-coding gene	gene with protein product	colon cancer associated protein Mic1, macrophage inhibitory cytokine 1				NA	12477932	Standard	NM_013326	NM_013326	NA	Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000590868.1:c.961C>A	18.37:g.21106645C>A	ENSP00000467007:p.Leu321Ile	NA	Q9BU17|Q9Y5M0	37		.	.	.	.	.	.	.	.	.	.	C	18.22	3.574645	0.65878	.	.	ENSG00000141452	ENST00000269221;ENST00000544799;ENST00000540942;ENST00000542734	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.46347	0.1388	L	0.61387	1.9	0.80722	D	1	P	0.45126	0.851	B	0.37550	0.253	T	0.46992	-0.9151	9	0.32370	T	0.25	-20.1358	11.832	0.52301	0.0:0.9194:0.0:0.0806	.	369	Q96DM3	MIC1_HUMAN	I	369;212;321;212	.	ENSP00000269221:L369I	L	+	1	0	C18orf8	19360643	1.000000	0.71417	0.991000	0.47740	0.970000	0.65996	4.630000	0.61297	2.407000	0.81776	0.655000	0.94253	CTC	C18orf8-004	NOVEL	non_canonical_conserved|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000445389.1		+	ENST00000590868.1	Missense_Mutation	SNP	18 : 21106645 - 21106645 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	405	35
CAPRIN2	65981	broad.mit.edu	37	12	30873798	30873798	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:30873798C>T	ENST00000395805.2	-	12	2591				CAPRIN2_ENST00000251071.5_Missense_Mutation_p.D699N|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.D699N|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.D366N|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.D699N	NM_001206856.1	NP_001193785.1	Q6IMN6	CAPR2_HUMAN	caprin family member 2	NA					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GAAGCCTGATCGGTAGTAACC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ASN/ASP,ASN/ASP,ASN/ASP,	1,4405	2.1+/-5.4	0,1,2202	98	102	100		2095,2095,2095,	4.5	0.7	12		100	0,8600		0,0,4300	no	missense,missense,missense,intron	CAPRIN2	NM_001002259.1,NM_023925.3,NM_032156.3,NM_001206856.1	23,23,23,	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,	699/1128,699/1078,699/961,	30873798	1,13005	2203	4300	6503	SO:0001627	intron_variant			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888	65981	65981			21259	protein-coding gene	gene with protein product		610375	C1q domain containing 1	C1QDC1	NA	11347906, 14764709	Standard	NM_023925	NM_001002259	NA	Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.2044-1639G>A	12.37:g.30873798C>T		NA	Q149P7|Q6IMN5|Q7Z371|Q8TE70|Q8TE71|Q96RN6|Q9H667|Q9HAL4	37	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231118	0.79688	2.27E-4	0.0	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000251071;ENST00000308433;ENST00000417045;ENST00000537108	T;T;T;T;T;T	0.21734	1.99;2.0;1.99;1.99;1.99;1.99	5.35	4.46	0.54185	.	0.353866	0.30969	N	0.008504	T	0.31451	0.0797	L	0.47716	1.5	0.33215	D	0.553909	D;P;P;D	0.76494	0.999;0.926;0.947;0.984	P;B;B;P	0.56788	0.806;0.324;0.294;0.634	T	0.45425	-0.9262	10	0.51188	T	0.08	-6.765	11.2924	0.49258	0.0:0.9158:0.0:0.0842	.	699;699;699;699	Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;CAPR2_HUMAN;.;.	N	445;699;699;366;699;618	ENSP00000415407:D445N;ENSP00000298892:D699N;ENSP00000251071:D699N;ENSP00000309785:D366N;ENSP00000391479:D699N;ENSP00000438010:D618N	ENSP00000251071:D699N	D	-	1	0	CAPRIN2	30765065	0.992000	0.36948	0.727000	0.30756	0.985000	0.73830	3.019000	0.49635	1.247000	0.43917	0.591000	0.81541	GAT	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403322.2		-	ENST00000395805.2	Intron	SNP	12 : 30873798 - 30873798 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	399	73
FTSJ3	117246	broad.mit.edu	37	17	61902919	61902919	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61902919C>A	ENST00000427159.2	-	6	1022	c.377G>T	c.(376-378)tGg>tTg	p.W126L		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	126					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						ATCATGGACCCAGCTAGCCCC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	105	113			NA	NA	17		NA											NA				61902919		2203	4300	6503	SO:0001583	missense			AF327355	CCDS11644.1	17q23.3	2014-09-11			ENSG00000108592	ENSG00000108592	117246	117246			17136	protein-coding gene	gene with protein product	SPB1 RNA methyltransferase homolog (S. cerevisiae)				NA		Standard		NM_017647	NA	Approved	SPB1	uc002jca.3	Q8IY81	OTTHUMG00000179012	ENST00000427159.2:c.377G>T	17.37:g.61902919C>A	ENSP00000396673:p.Trp126Leu	NA	B2RCA5|D3DU22|Q8N3A3|Q8WXX1|Q9BWM4|Q9NXT6	37	CCDS11644.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243615	0.39697	.	.	ENSG00000108592	ENST00000427159	T	0.41758	0.99	4.76	4.76	0.60689	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.000000	0.85682	D	0.000000	T	0.70422	0.3222	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77686	-0.2495	10	0.87932	D	0	-11.1035	15.3012	0.73952	0.0:1.0:0.0:0.0	.	126	Q8IY81	RRMJ3_HUMAN	L	126	ENSP00000396673:W126L	ENSP00000396673:W126L	W	-	2	0	FTSJ3	59256651	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.030000	0.76484	2.457000	0.83068	0.455000	0.32223	TGG	FTSJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444386.1		-	ENST00000427159.2	Missense_Mutation	SNP	17 : 61902919 - 61902919 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	452	69
SCLY	51540	broad.mit.edu	37	2	238990750	238990750	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238990750C>A	ENST00000254663.6	+	6	843	c.701C>A	c.(700-702)cCt>cAt	p.P234H	SCLY_ENST00000373332.3_Missense_Mutation_p.P144H|SCLY_ENST00000422984.2_Missense_Mutation_p.P132H|SCLY_ENST00000429612.2_Intron|SCLY_ENST00000409736.2_Missense_Mutation_p.P226H|SCLY_ENST00000555827.1_Missense_Mutation_p.P226H	NM_016510.5	NP_057594.4	Q96I15	SCLY_HUMAN	selenocysteine lyase	226					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		GCTGGGCTACCTCCCATCCTC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)							NA				0													109	98	102			NA	NA	2		NA											NA				238990750		2203	4300	6503	SO:0001583	missense			AF175767	CCDS2524.1, CCDS2524.2	2q37.3	2008-02-05			ENSG00000132330	ENSG00000132330	51540	51540			18161	protein-coding gene	gene with protein product	putative selenocysteine lyase	611056			NA	10692412	Standard	NM_016510	NM_016510	NA	Approved	SCL	uc010fyv.4	Q96I15	OTTHUMG00000133336	ENST00000254663.6:c.701C>A	2.37:g.238990750C>A	ENSP00000254663:p.Pro234His	NA	B9A068|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	37	CCDS2524.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.83|13.83	2.355000|2.355000	0.41700|0.41700	.|.	.|.	ENSG00000132330|ENSG00000132330	ENST00000431487|ENST00000254663;ENST00000555827;ENST00000373332;ENST00000413463;ENST00000409736;ENST00000422984;ENST00000450965	.|T;T;T;T;T;T;T	.|0.32988	.|1.85;1.85;1.43;1.44;1.87;1.85;1.48	5.38|5.38	5.38|5.38	0.77491|0.77491	.|Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.58595|0.58595	0.2133|0.2133	M|M	0.77616|0.77616	2.38|2.38	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;1.0;0.99	.|D;D;D	.|0.76575	.|0.983;0.988;0.94	T|T	0.61964|0.61964	-0.6954|-0.6954	5|10	.|0.62326	.|D	.|0.03	-14.5538|-14.5538	17.9223|17.9223	0.88970|0.88970	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|132;226;226	.|E7ESG3;Q96I15;Q96I15-2	.|.;SCLY_HUMAN;.	I|H	72|234;226;144;140;226;132;56	.|ENSP00000254663:P234H;ENSP00000450613:P226H;ENSP00000362429:P144H;ENSP00000414165:P140H;ENSP00000387162:P226H;ENSP00000416865:P132H;ENSP00000414053:P56H	.|ENSP00000254663:P226H	L|P	+|+	1|2	0|0	SCLY|SCLY	238655489|238655489	1.000000|1.000000	0.71417|0.71417	0.947000|0.947000	0.38551|0.38551	0.017000|0.017000	0.09413|0.09413	5.615000|5.615000	0.67702|0.67702	2.519000|2.519000	0.84933|0.84933	0.655000|0.655000	0.94253|0.94253	CTC|CCT	SCLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257165.3		+	ENST00000254663.6	Missense_Mutation	SNP	2 : 238990750 - 238990750 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	537	94
CYP2J2	1573	broad.mit.edu	37	1	60377927	60377927	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:60377927C>T	ENST00000371204.3	-	3	473	c.430G>A	c.(430-432)Gca>Aca	p.A144T	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	144					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					TTCCTTAGTGCTGTCAGAGTG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													202	169	180			NA	NA	1		NA											NA				60377927		2203	4300	6503	SO:0001583	missense			BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716	1573	1573		Cytochrome P450s	2634	protein-coding gene	gene with protein product		601258	cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2		NA	9570962	Standard	NM_000775	NM_000775	NA	Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.430G>A	1.37:g.60377927C>T	ENSP00000360247:p.Ala144Thr	NA		37	CCDS613.1	.	.	.	.	.	.	.	.	.	.	C	0.525	-0.860623	0.02610	.	.	ENSG00000134716	ENST00000371204	T	0.67171	-0.25	5.85	3.59	0.41128	.	0.155125	0.56097	N	0.000022	T	0.25938	0.0632	N	0.00560	-1.38	0.19775	N	0.999956	B	0.02656	0.0	B	0.08055	0.003	T	0.36237	-0.9756	10	0.02654	T	1	.	7.9599	0.30066	0.0:0.1789:0.0:0.8211	.	144	P51589	CP2J2_HUMAN	T	144	ENSP00000360247:A144T	ENSP00000360247:A144T	A	-	1	0	CYP2J2	60150515	0.862000	0.29867	0.204000	0.23530	0.488000	0.33401	1.207000	0.32333	0.514000	0.28300	0.655000	0.94253	GCA	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000024940.1		-	ENST00000371204.3	Missense_Mutation	SNP	1 : 60377927 - 60377927 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	550	54
LCE1C	353133	broad.mit.edu	37	1	152777882	152777882	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152777882G>A	ENST00000607093.1	-	1	72	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S	LCE1C_ENST00000368768.1_Missense_Mutation_p.P25S			Q5T751	LCE1C_HUMAN	late cornified envelope 1C	25	Pro-rich.				keratinization					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			tttggggTGgggcacttggga	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	44	44			NA	NA	1		NA											NA				152777882		2203	4300	6503	SO:0001583	missense				CCDS1026.1	1q21.3	2008-02-05			ENSG00000197084	ENSG00000197084	353133	353133		Late cornified envelopes	29464	protein-coding gene	gene with protein product		612605			NA	11698679	Standard	NM_178351	NM_001276331	NA	Approved	LEP3	uc001fap.1	Q5T751	OTTHUMG00000012445	ENST00000607093.1:c.73C>T	1.37:g.152777882G>A	ENSP00000475270:p.Pro25Ser	NA		37	CCDS1026.1	.	.	.	.	.	.	.	.	.	.	G	0.310	-0.968345	0.02232	.	.	ENSG00000197084	ENST00000368768	T	0.03663	3.85	3.53	-0.578	0.11724	.	.	.	.	.	T	0.01489	0.0048	M	0.68952	2.095	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43048	-0.9415	9	0.87932	D	0	.	3.3399	0.07115	0.3664:0.2056:0.428:0.0	.	25	Q5T751	LCE1C_HUMAN	S	25	ENSP00000357757:P25S	ENSP00000357757:P25S	P	-	1	0	LCE1C	151044506	0.872000	0.30054	0.035000	0.18076	0.093000	0.18481	2.296000	0.43584	0.008000	0.14787	-0.150000	0.13652	CCC	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034658.2		-	ENST00000607093.1	Missense_Mutation	SNP	1 : 152777882 - 152777882 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	430	113
DCBLD2	131566	broad.mit.edu	37	3	98518287	98518287	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98518287G>A	ENST00000326840.6	-	16	2619	c.2257C>T	c.(2257-2259)Cca>Tca	p.P753S	DCBLD2_ENST00000326857.9_Missense_Mutation_p.P767S	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	753					cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GTGCTCTGTGGCACCTGGTAC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													216	214	215			NA	NA	3		NA											NA				98518287		1954	4160	6114	SO:0001583	missense				CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019	131566	131566			24627	protein-coding gene	gene with protein product		608698			NA	11447234	Standard	NM_080927	NM_080927	NA	Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.2257C>T	3.37:g.98518287G>A	ENSP00000321573:p.Pro753Ser	NA	B7WNL1|D3DN41|Q8N6M4|Q8TDX2	37	CCDS46878.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103204	0.76983	.	.	ENSG00000057019	ENST00000326840;ENST00000326857	T;T	0.30182	1.54;1.54	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.59018	0.2163	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.57142	-0.7862	10	0.51188	T	0.08	-16.0329	18.0345	0.89296	0.0:0.0:1.0:0.0	.	767;753	Q96PD2-2;Q96PD2	.;DCBD2_HUMAN	S	753;767	ENSP00000321573:P753S;ENSP00000321646:P767S	ENSP00000321573:P753S	P	-	1	0	DCBLD2	100000977	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	8.608000	0.90895	2.865000	0.98341	0.655000	0.94253	CCA	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324675.2		-	ENST00000326840.6	Missense_Mutation	SNP	3 : 98518287 - 98518287 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1240	229
ZC3H18	124245	broad.mit.edu	37	16	88643861	88643861	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88643861C>T	ENST00000301011.5	+	2	530	c.330C>T	c.(328-330)agC>agT	p.S110S	ZC3H18_ENST00000452588.2_Silent_p.S110S	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	110						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		ACCGGACAAGCGACCTTAGGG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(121;375 2276 20373 38669)							NA				0													47	47	47			NA	NA	16		NA											NA				88643861		2198	4300	6498	SO:0001819	synonymous_variant			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545	124245	124245		Zinc fingers, CCCH-type domain containing	25091	protein-coding gene	gene with protein product					NA	17579712	Standard	NM_144604	NM_144604	NA	Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.330C>T	16.37:g.88643861C>T		NA	Q96DG4|Q96MP7	37	CCDS10967.1																																																																																			ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269168.1		+	ENST00000301011.5	Silent	SNP	16 : 88643861 - 88643861 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	184	8
NR2C2	7182	broad.mit.edu	37	3	15070094	15070094	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15070094C>A	ENST00000425241.1	+	8	1162	c.800C>A	c.(799-801)gCt>gAt	p.A267D	NR2C2_ENST00000406272.2_Splice_Site_p.A267D|NR2C2_ENST00000393102.3_Splice_Site_p.A267D|NR2C2_ENST00000478572.1_3'UTR|NR2C2_ENST00000323373.6_Splice_Site_p.A286D			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	267					cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTTTAATAGGCTGAAACAAGC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	60	62			NA	NA	3		NA											NA				15070094		2203	4300	6503	SO:0001630	splice_region_variant			L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463	7182	7182		Nuclear hormone receptors	7972	protein-coding gene	gene with protein product		601426		TR4	NA	8661150, 8016112	Standard	NM_003298	XM_005265428	NA	Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.799-1C>A	3.37:g.15070094C>A		NA	A8K3H5|B6ZGT8|P55092	37		.	.	.	.	.	.	.	.	.	.	C	15.27	2.783963	0.49891	.	.	ENSG00000177463	ENST00000425241;ENST00000323373;ENST00000393102;ENST00000406272	D;D;D;D	0.93811	-3.29;-3.29;-3.29;-3.29	5.81	5.81	0.92471	Nuclear hormone receptor, ligand-binding (1);	0.095622	0.85682	D	0.000000	D	0.89663	0.6780	L	0.27053	0.805	0.37836	D	0.928884	B;P	0.40476	0.004;0.718	B;B	0.39299	0.005;0.296	D	0.89087	0.3480	10	0.28530	T	0.3	.	20.0912	0.97820	0.0:1.0:0.0:0.0	.	267;286	P49116;F2YGU2	NR2C2_HUMAN;.	D	267;286;267;267	ENSP00000388387:A267D;ENSP00000320447:A286D;ENSP00000376814:A267D;ENSP00000384463:A267D	ENSP00000320447:A286D	A	+	2	0	NR2C2	15045098	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.273000	0.43381	2.746000	0.94184	0.591000	0.81541	GCT	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000340729.1	Missense_Mutation	+	ENST00000425241.1	Splice_Site	SNP	3 : 15070094 - 15070094 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	136	10
ZNF358	140467	broad.mit.edu	37	19	7584405	7584405	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7584405G>A	ENST00000597229.1	+	2	447	c.277G>A	c.(277-279)Gac>Aac	p.D93N	CTD-2207O23.12_ENST00000599312.1_3'UTR|ZNF358_ENST00000394341.2_Missense_Mutation_p.D93N	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	93					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						TTCGAGTTTCGACCTCGATCC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	86	90			NA	NA	19		NA											NA				7584405		2203	4300	6503	SO:0001583	missense			AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816	140467	140467		Zinc fingers, C2H2-type	16838	protein-coding gene	gene with protein product					NA		Standard		NM_018083	NA	Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.277G>A	19.37:g.7584405G>A	ENSP00000472305:p.Asp93Asn	NA	Q9BTM7	37	CCDS32890.2	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655071	0.67472	.	.	ENSG00000198816	ENST00000361576;ENST00000394341	T	0.07327	3.2	3.91	3.91	0.45181	.	.	.	.	.	T	0.04952	0.0133	N	0.24115	0.695	0.09310	N	0.999998	P	0.43885	0.82	B	0.26969	0.075	T	0.38542	-0.9656	9	0.26408	T	0.33	-25.3346	14.2642	0.66104	0.0:0.0:1.0:0.0	.	93	Q9NW07	ZN358_HUMAN	N	93	ENSP00000377873:D93N	ENSP00000354703:D93N	D	+	1	0	ZNF358	7490405	0.975000	0.34042	0.250000	0.24296	0.609000	0.37215	3.926000	0.56491	2.137000	0.66172	0.456000	0.33151	GAC	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316747.1		+	ENST00000597229.1	Missense_Mutation	SNP	19 : 7584405 - 7584405 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	877	39
EPHB2	2048	broad.mit.edu	37	1	23222070	23222070	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23222070A>G	ENST00000400191.3	+	8	1715	c.1697A>G	c.(1696-1698)aAc>aGc	p.N566S	EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Missense_Mutation_p.N561S|EPHB2_ENST00000374630.3_Missense_Mutation_p.N566S|EPHB2_ENST00000374632.3_Missense_Mutation_p.N566S	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	566					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		ATCGTGTGTAACAGGTGGGTG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	88	92			NA	NA	1		NA											NA				23222070		2203	4300	6503	SO:0001583	missense			AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2048	2048	2.7.10.1	EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3393	protein-coding gene	gene with protein product		600997	EphB2	DRT, ERK, EPHT3	NA	1648701	Standard	NM_017449	NM_017449	NA	Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.1697A>G	1.37:g.23222070A>G	ENSP00000383053:p.Asn566Ser	NA	O43477|Q5T0U6|Q5T0U7|Q5T0U8	37		.	.	.	.	.	.	.	.	.	.	A	6.939	0.543039	0.13250	.	.	ENSG00000133216	ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T	0.09723	2.95;2.95;2.95;2.95	4.98	4.98	0.66077	.	0.430341	0.23937	N	0.043085	T	0.02848	0.0085	N	0.00525	-1.395	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45411	-0.9263	10	0.22109	T	0.4	.	8.3167	0.32104	0.9114:0.0:0.0886:0.0	.	566;584;566	P29323;Q4LE53;P29323-3	EPHB2_HUMAN;.;.	S	566;566;566;561	ENSP00000363761:N566S;ENSP00000383053:N566S;ENSP00000363763:N566S;ENSP00000363758:N561S	ENSP00000363758:N561S	N	+	2	0	EPHB2	23094657	0.955000	0.32602	1.000000	0.80357	0.993000	0.82548	1.048000	0.30379	2.082000	0.62665	0.533000	0.62120	AAC	EPHB2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000008060.2		+	ENST00000400191.3	Missense_Mutation	SNP	1 : 23222070 - 23222070 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	374	23
WFS1	7466	broad.mit.edu	37	4	6303932	6303932	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6303932C>A	ENST00000226760.1	+	8	2580	c.2410C>A	c.(2410-2412)Ctg>Atg	p.L804M	WFS1_ENST00000503569.1_Missense_Mutation_p.L804M	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	804					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GGACATCGTGCTGCGGGCCAG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	42	41			NA	NA	4		NA											NA				6303932		2203	4300	6503	SO:0001583	missense			AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501	7466	7466			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38	NA	7987399, 9771706	Standard		NM_006005	NA	Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.2410C>A	4.37:g.6303932C>A	ENSP00000226760:p.Leu804Met	NA	B2R797|D3DVT1|Q8N6I3|Q9UNW6	37	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663252	0.67700	.	.	ENSG00000109501	ENST00000503569;ENST00000226760;ENST00000540337	D;D	0.95342	-3.68;-3.68	5.59	5.59	0.84812	.	0.000000	0.64402	D	0.000001	D	0.95655	0.8587	L	0.32530	0.975	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	D	0.96219	0.9159	10	0.72032	D	0.01	-23.9621	18.573	0.91144	0.0:1.0:0.0:0.0	.	804	O76024	WFS1_HUMAN	M	804;804;182	ENSP00000423337:L804M;ENSP00000226760:L804M	ENSP00000226760:L804M	L	+	1	2	WFS1	6354833	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.248000	0.43160	2.636000	0.89361	0.561000	0.74099	CTG	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206863.1		+	ENST00000226760.1	Missense_Mutation	SNP	4 : 6303932 - 6303932 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	318	55
ZHX2	22882	broad.mit.edu	37	8	123963770	123963770	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:123963770C>T	ENST00000314393.4	+	3	855	c.20C>T	c.(19-21)tCt>tTt	p.S7F		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	7						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AAACGAAAATCTACAACTCCA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(94;1056 1388 11767 13799 49639)							NA				0													44	38	40			NA	NA	8		NA											NA				123963770		2203	4300	6503	SO:0001583	missense			AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764	22882	22882		Zinc fingers, C2H2-type, Homeoboxes / ZF class	18513	protein-coding gene	gene with protein product		609185	zinc-fingers and homeoboxes 2		NA	10048485, 12741956	Standard	NM_014943	XM_005250837	NA	Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.20C>T	8.37:g.123963770C>T	ENSP00000314709:p.Ser7Phe	NA		37	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	C	34	5.297762	0.95574	.	.	ENSG00000178764	ENST00000314393	T	0.33654	1.4	5.86	5.86	0.93980	.	0.056836	0.64402	D	0.000001	T	0.65760	0.2722	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68025	-0.5518	10	0.87932	D	0	-11.8845	20.1829	0.98210	0.0:1.0:0.0:0.0	.	7	Q9Y6X8	ZHX2_HUMAN	F	7	ENSP00000314709:S7F	ENSP00000314709:S7F	S	+	2	0	ZHX2	124032951	1.000000	0.71417	0.978000	0.43139	0.996000	0.88848	7.247000	0.78257	2.767000	0.95098	0.561000	0.74099	TCT	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381709.1		+	ENST00000314393.4	Missense_Mutation	SNP	8 : 123963770 - 123963770 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	85	21
MTR	4548	broad.mit.edu	37	1	237013811	237013811	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237013811A>G	ENST00000366577.5	+	16	2077	c.1683A>G	c.(1681-1683)acA>acG	p.T561T	MTR_ENST00000535889.1_Silent_p.T561T	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	561	Pterin-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TCCATGCAACAAAAGTCATTA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	108	112			NA	NA	1		NA											NA				237013811		2203	4300	6503	SO:0001819	synonymous_variant			U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	4548	4548	2.1.1.13		7468	protein-coding gene	gene with protein product		156570			NA	8968735	Standard	NM_000254	NM_000254	NA	Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.1683A>G	1.37:g.237013811A>G		NA	A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	37	CCDS1614.1																																																																																			MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096632.2		+	ENST00000366577.5	Silent	SNP	1 : 237013811 - 237013811 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	431	61
STK25	10494	broad.mit.edu	37	2	242438508	242438508	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242438508C>T	ENST00000316586.4	-	7	1016	c.667G>A	c.(667-669)Gtc>Atc	p.V223I	STK25_ENST00000405883.3_Missense_Mutation_p.V146I|STK25_ENST00000405585.1_Missense_Mutation_p.V146I|STK25_ENST00000403346.3_Missense_Mutation_p.V223I|STK25_ENST00000478403.1_5'UTR|STK25_ENST00000535007.1_Missense_Mutation_p.V129I|STK25_ENST00000401869.1_Missense_Mutation_p.V223I|STK25_ENST00000543554.1_Missense_Mutation_p.V129I	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	223	Protein kinase.				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		AGGAACAGGACGCGCATGGGG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(99;1100 1566 7679 28647 48345)							NA				0													70	78	76			NA	NA	2		NA											NA				242438508		2203	4300	6503	SO:0001583	missense			D63780	CCDS2549.1, CCDS63199.1, CCDS63200.1	2q37.3	2010-06-25	2010-06-25		ENSG00000115694	ENSG00000115694	10494	10494			11404	protein-coding gene	gene with protein product		602255	serine/threonine kinase 25 (Ste20, yeast homolog)		NA	8887545, 9160885, 15037601	Standard	NM_006374	NM_001271977	NA	Approved	SOK1, YSK1	uc002wbp.4	O00506	OTTHUMG00000133408	ENST00000316586.4:c.667G>A	2.37:g.242438508C>T	ENSP00000325748:p.Val223Ile	NA	A8K7D2|Q15522|Q5BJF1	37	CCDS2549.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987877	0.74589	.	.	ENSG00000115694	ENST00000316586;ENST00000403346;ENST00000401869;ENST00000405883;ENST00000545437;ENST00000405585;ENST00000543554;ENST00000535007;ENST00000450497;ENST00000424537;ENST00000442307;ENST00000413760	T;T;T;T;T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	5.29	5.29	0.74685	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.64427	0.2597	N	0.10629	0.01	0.80722	D	1	D;D;D;D	0.71674	0.998;0.979;0.979;0.998	D;D;D;D	0.69824	0.966;0.934;0.935;0.935	T	0.73487	-0.3967	10	0.87932	D	0	.	19.321	0.94240	0.0:1.0:0.0:0.0	.	149;146;223;129	B4DVS7;A8K6Z3;O00506;B4E185	.;.;STK25_HUMAN;.	I	223;223;223;146;129;146;129;129;129;127;129;129	ENSP00000325748:V223I;ENSP00000384162:V223I;ENSP00000385687:V223I;ENSP00000384444:V146I;ENSP00000385541:V146I;ENSP00000444886:V129I;ENSP00000446008:V129I;ENSP00000399212:V129I;ENSP00000417020:V127I;ENSP00000403607:V129I;ENSP00000395104:V129I	ENSP00000325748:V223I	V	-	1	0	STK25	242087181	1.000000	0.71417	0.624000	0.29186	0.046000	0.14306	7.583000	0.82559	2.637000	0.89404	0.655000	0.94253	GTC	STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257265.4		-	ENST00000316586.4	Missense_Mutation	SNP	2 : 242438508 - 242438508 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	88
ERF	2077	broad.mit.edu	37	19	42753278	42753278	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42753278C>T	ENST00000222329.4	-	4	1143	c.986G>A	c.(985-987)cGc>cAc	p.R329H	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Missense_Mutation_p.R254H	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	329					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				CAGGAAGGCGCGGGGGCTGAG	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	46	43			NA	NA	19		NA											NA				42753278		2199	4290	6489	SO:0001583	missense			U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722	2077	2077			3444	protein-coding gene	gene with protein product	Ets2 repressor factor	611888			NA	7588608, 9192842	Standard	NM_006494	XM_005258644	NA	Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.986G>A	19.37:g.42753278C>T	ENSP00000222329:p.Arg329His	NA	B2RAP1|Q59G38|Q9UPI7	37	CCDS12600.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116673	0.77323	.	.	ENSG00000105722	ENST00000222329;ENST00000440177	T;T	0.33865	1.39;1.39	4.82	3.78	0.43462	.	0.148471	0.44902	D	0.000416	T	0.52322	0.1727	L	0.57536	1.79	0.58432	D	0.99999	D	0.76494	0.999	D	0.76071	0.987	T	0.54302	-0.8314	10	0.87932	D	0	.	10.4326	0.44417	0.0:0.9038:0.0:0.0962	.	329	P50548	ERF_HUMAN	H	329;254	ENSP00000222329:R329H;ENSP00000388173:R254H	ENSP00000222329:R329H	R	-	2	0	ERF	47445118	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.506000	0.66993	2.382000	0.81193	0.655000	0.94253	CGC	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463684.1		-	ENST00000222329.4	Missense_Mutation	SNP	19 : 42753278 - 42753278 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	37
GCG	2641	broad.mit.edu	37	2	163003925	163003925	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163003925C>T	ENST00000418842.2	-	3	446	c.192G>A	c.(190-192)aaG>aaA	p.K64K	GCG_ENST00000375497.3_Silent_p.K64K	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	64					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14					Exenatide(DB01276)|Phentolamine(DB00692)	AGTCCAGATACTTGCTGTAGT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													243	240	241			NA	NA	2		NA											NA				163003925		2022	4190	6212	SO:0001819	synonymous_variant				CCDS46439.1	2q36-q37	2013-02-26			ENSG00000115263	ENSG00000115263	2641	2641		Endogenous ligands	4191	protein-coding gene	gene with protein product	glicentin-related polypeptide, glucagon-like peptide 1, glucagon-like peptide 2, preproglucagon	138030			NA	2753890, 3725587	Standard	NM_002054	NM_002054	NA	Approved	GLP1, GLP2, GRPP	uc002ucc.4	P01275	OTTHUMG00000153892	ENST00000418842.2:c.192G>A	2.37:g.163003925C>T		NA	A6NN65|Q53TP6	37	CCDS46439.1																																																																																			GCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000332860.1		-	ENST00000418842.2	Silent	SNP	2 : 163003925 - 163003925 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1183	319
JPH2	57158	broad.mit.edu	37	20	42788611	42788611	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42788611G>A	ENST00000372980.3	-	2	1688	c.816C>T	c.(814-816)ggC>ggT	p.G272G		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	272					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCTCGTCGGCGCCCTCGGCGG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	22	22			NA	NA	20		NA											NA				42788611		2199	4297	6496	SO:0001819	synonymous_variant			AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596	57158	57158			14202	protein-coding gene	gene with protein product		605267			NA	10891348, 10949023	Standard		XM_006723832	NA	Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.816C>T	20.37:g.42788611G>A		NA	E1P5X1|O95913|Q5JY74|Q9UJN4	37	CCDS13325.1																																																																																			JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080307.1		-	ENST00000372980.3	Silent	SNP	20 : 42788611 - 42788611 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	96	18
KCNQ5	56479	broad.mit.edu	37	6	73787531	73787531	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:73787531C>T	ENST00000342056.2	+	5	1237	c.839C>T	c.(838-840)tCg>tTg	p.S280L	KCNQ5_ENST00000355635.3_Missense_Mutation_p.S280L|KCNQ5_ENST00000355194.4_Missense_Mutation_p.S280L|KCNQ5_ENST00000414165.2_Missense_Mutation_p.S280L|KCNQ5_ENST00000403813.2_Missense_Mutation_p.S280L|KCNQ5_ENST00000402622.2_Missense_Mutation_p.S280L|KCNQ5_ENST00000370392.1_Missense_Mutation_p.S280L|KCNQ5_ENST00000370398.1_Missense_Mutation_p.S280L	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	280					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.S280L(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CTTATTTTTTCGTCTTTCCTT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(142;1375 1859 14391 23261 44706)							NA				1	Substitution - Missense(1)	lung(1)											138	118	125			NA	NA	6		NA											NA				73787531		2203	4300	6503	SO:0001583	missense			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760	56479	56479		Potassium channels, Voltage-gated ion channels / Potassium channels	6299	protein-coding gene	gene with protein product		607357			NA	10787416, 10816588, 16382104	Standard	NM_019842	NM_019842	NA	Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000342056.2:c.839C>T	6.37:g.73787531C>T	ENSP00000345055:p.Ser280Leu	NA	B5MC83|B7ZL37|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	37	CCDS55034.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204449	0.79127	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37	5.86	5.86	0.93980	Ion transport (1);	0.066132	0.64402	D	0.000006	D	0.97383	0.9144	L	0.58354	1.805	0.80722	D	1	P;P;D;D;P;P	0.61080	0.55;0.937;0.981;0.989;0.949;0.521	B;B;P;P;P;B	0.57101	0.167;0.358;0.813;0.778;0.687;0.054	D	0.97285	0.9920	10	0.62326	D	0.03	.	20.1823	0.98208	0.0:1.0:0.0:0.0	.	280;280;280;280;280;280	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	L	280	ENSP00000345055:S280L;ENSP00000347326:S280L;ENSP00000359425:S280L;ENSP00000359419:S280L;ENSP00000385501:S280L;ENSP00000347853:S280L;ENSP00000384453:S280L;ENSP00000409861:S280L	ENSP00000345055:S280L	S	+	2	0	KCNQ5	73844252	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.771000	0.95319	0.650000	0.86243	TCG	KCNQ5-006	NOVEL	not_organism_supported|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316124.1		+	ENST00000342056.2	Missense_Mutation	SNP	6 : 73787531 - 73787531 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	165	20
DAXX	1616	broad.mit.edu	37	6	33288802	33288802	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33288802G>A	ENST00000374542.5	-	3	954	c.750C>T	c.(748-750)ggC>ggT	p.G250G	DAXX_ENST00000477162.1_Intron|DAXX_ENST00000266000.6_Silent_p.G250G|DAXX_ENST00000414083.2_Silent_p.G175G	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	250					activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						CTATGACACGGCCGGTCAGTG	0.587		NA	Mis, F, N		Pancreatic neuroendocrine tumors. Paediatric GBM									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		6	6p21.3	1616	death-domain associated protein		E	0													72	66	68			NA	NA	6		NA											NA				33288802		2203	4300	6503	SO:0001819	synonymous_variant			AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209	1616	1616			2681	protein-coding gene	gene with protein product		603186	death-associated protein 6		NA	9407001, 9215629	Standard		NM_001141970	NA	Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.750C>T	6.37:g.33288802G>A		NA	O14747|O15141|O15208|Q5STK9|Q9BWI3	37	CCDS4776.1																																																																																			DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076403.1		-	ENST00000374542.5	Silent	SNP	6 : 33288802 - 33288802 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	506	82
SLC44A1	23446	broad.mit.edu	37	9	108110647	108110647	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:108110647C>A	ENST00000374720.3	+	5	662	c.415C>A	c.(415-417)Cta>Ata	p.L139I	SLC44A1_ENST00000374723.1_Missense_Mutation_p.L139I|SLC44A1_ENST00000374724.1_Missense_Mutation_p.L139I	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	139						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	AGGTTCAGCCCTATGTAGCTA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	110	110			NA	NA	9		NA											NA				108110647		2203	4300	6503	SO:0001583	missense			AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214	23446	23446		CD molecules, Solute carriers	18798	protein-coding gene	gene with protein product		606105	CDW92 antigen	CDW92	NA	11698453, 10677542	Standard	NM_080546	NM_080546	NA	Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.415C>A	9.37:g.108110647C>A	ENSP00000363852:p.Leu139Ile	NA	A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	37	CCDS6763.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.511130	0.44660	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724	T;T;T	0.80123	-1.34;-1.34;-1.34	5.39	3.3	0.37823	.	0.000000	0.64402	D	0.000001	T	0.78861	0.4350	M	0.62266	1.93	0.80722	D	1	B;B	0.30482	0.281;0.023	B;B	0.42214	0.38;0.007	T	0.70905	-0.4745	10	0.21014	T	0.42	-5.5214	7.2023	0.25887	0.0:0.6409:0.0:0.3591	.	139;139	Q8WWI5-3;Q8WWI5	.;CTL1_HUMAN	I	139	ENSP00000363855:L139I;ENSP00000363852:L139I;ENSP00000363856:L139I	ENSP00000363852:L139I	L	+	1	2	SLC44A1	107150468	0.997000	0.39634	0.999000	0.59377	0.926000	0.56050	1.398000	0.34554	1.276000	0.44395	0.609000	0.83330	CTA	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053500.1		+	ENST00000374720.3	Missense_Mutation	SNP	9 : 108110647 - 108110647 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	469	87
KCNG3	170850	broad.mit.edu	37	2	42720251	42720251	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:42720251C>T	ENST00000306078.1	-	1	986	c.391G>A	c.(391-393)Gag>Aag	p.E131K	KCNG3_ENST00000394973.4_Missense_Mutation_p.E131K	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	131						endoplasmic reticulum|voltage-gated potassium channel complex	protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						ACGCCCGGCTCGTCGGCCGAG	0.736		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													5	6	6			NA	NA	2		NA											NA				42720251		1757	3694	5451	SO:0001583	missense			AB070604	CCDS1809.1, CCDS42674.1	2p21	2011-07-05			ENSG00000171126	ENSG00000171126	170850	170850		Potassium channels, Voltage-gated ion channels / Potassium channels	18306	protein-coding gene	gene with protein product		606767			NA	11852086, 16382104	Standard	NM_172344	NM_133329	NA	Approved	Kv6.3	uc002rsn.3	Q8TAE7	OTTHUMG00000128604	ENST00000306078.1:c.391G>A	2.37:g.42720251C>T	ENSP00000304127:p.Glu131Lys	NA	Q53SC1	37	CCDS1809.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.929283	0.52759	.	.	ENSG00000171126	ENST00000306078;ENST00000394973	D;D	0.97553	-4.32;-4.43	3.95	3.95	0.45737	.	0.481267	0.20652	N	0.088195	D	0.92368	0.7578	L	0.42245	1.32	0.53688	D	0.999971	P;P	0.40398	0.716;0.628	B;B	0.25759	0.041;0.063	D	0.91555	0.5260	10	0.42905	T	0.14	.	9.9485	0.41626	0.0:0.9055:0.0:0.0945	.	131;131	Q8TAE7;Q8TAE7-2	KCNG3_HUMAN;.	K	131	ENSP00000304127:E131K;ENSP00000378424:E131K	ENSP00000304127:E131K	E	-	1	0	KCNG3	42573755	0.999000	0.42202	0.830000	0.32933	0.594000	0.36715	4.229000	0.58625	2.024000	0.59613	0.462000	0.41574	GAG	KCNG3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250464.2		-	ENST00000306078.1	Missense_Mutation	SNP	2 : 42720251 - 42720251 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	101	17
DIXDC1	85458	broad.mit.edu	37	11	111866170	111866170	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111866170G>A	ENST00000389821.4	+	0	1867				DIXDC1_ENST00000440460.2_Missense_Mutation_p.R523H|DIXDC1_ENST00000315253.5_Missense_Mutation_p.R312H			Q155Q3	DIXC1_HUMAN	DIX domain containing 1	NA					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		CGCAGCCTGCGCAACAGCTTC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	71	70			NA	NA	11		NA											NA				111866170		2131	4234	6365	SO:0001624	3_prime_UTR_variant			AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764	85458	85458			23695	protein-coding gene	gene with protein product		610493			NA	12792787	Standard	NM_001037954	NM_001037954	NA	Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000389821.4:c.*1864G>A	11.37:g.111866170G>A		NA	A1A5D8|Q6P2J8|Q6PIK4|Q8IVY4|Q96N69|Q9C0C8	37		.	.	.	.	.	.	.	.	.	.	G	36	5.706164	0.96812	.	.	ENSG00000150764	ENST00000440460;ENST00000315253	T;T	0.25749	1.78;1.78	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.55242	0.1908	.	.	.	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.994;0.994	T	0.54702	-0.8254	9	0.52906	T	0.07	-37.8064	19.8479	0.96722	0.0:0.0:1.0:0.0	.	189;312;524	B4DH68;E7EQ17;Q155Q3	.;.;DIXC1_HUMAN	H	523;312	ENSP00000394352:R523H;ENSP00000314068:R312H	ENSP00000314068:R312H	R	+	2	0	DIXDC1	111371380	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.205000	0.95048	2.681000	0.91329	0.655000	0.94253	CGC	DIXDC1-001	KNOWN	basic	processed_transcript	NA	protein_coding	OTTHUMT00000391833.1		+	ENST00000389821.4	3'UTR	SNP	11 : 111866170 - 111866170 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	286	53
DMTN	2039	broad.mit.edu	37	8	21926954	21926954	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21926954G>A	ENST00000517600.1	+	4	447	c.199G>A	c.(199-201)Gga>Aga	p.G67R	DMTN_ENST00000523782.2_Missense_Mutation_p.G82R|DMTN_ENST00000519907.1_Missense_Mutation_p.G107R|DMTN_ENST00000443491.2_Missense_Mutation_p.G82R|DMTN_ENST00000523266.1_Missense_Mutation_p.G107R|DMTN_ENST00000432128.1_Missense_Mutation_p.G107R|DMTN_ENST00000381470.3_Missense_Mutation_p.G107R|DMTN_ENST00000415253.1_Missense_Mutation_p.G107R|DMTN_ENST00000265800.5_Missense_Mutation_p.G107R|DMTN_ENST00000358242.3_Missense_Mutation_p.G107R					dematin actin binding protein	NA											NA						CCGGTCGCCTGGAATCATCTC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	56	55			NA	NA	8		NA											NA				21926954		2203	4300	6503	SO:0001583	missense			U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856	2039	2039			3382	protein-coding gene	gene with protein product		125305	erythrocyte membrane protein band 4.9 (dematin)	EPB49	NA	8341682, 12011427	Standard	NM_001978	NM_001978	NA	Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000517600.1:c.199G>A	8.37:g.21926954G>A	ENSP00000430618:p.Gly67Arg	NA		37		.	.	.	.	.	.	.	.	.	.	G	10.60	1.394362	0.25205	.	.	ENSG00000158856	ENST00000523300;ENST00000519850;ENST00000381470;ENST00000432128;ENST00000443491;ENST00000517600;ENST00000541895;ENST00000523623;ENST00000520174;ENST00000517804;ENST00000265800;ENST00000381455;ENST00000517418;ENST00000358242;ENST00000415253;ENST00000523266;ENST00000519907	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.40476	1.51;1.03;1.03;1.03;1.03;1.03;1.51;1.51;1.51;1.03;1.51;1.03;1.03;1.03;1.03	4.7	4.7	0.59300	.	0.607633	0.15551	N	0.256395	T	0.19967	0.0480	N	0.04245	-0.25	0.36855	D	0.888083	P;B;B;B;B;B	0.42409	0.779;0.012;0.012;0.001;0.002;0.0	B;B;B;B;B;B	0.32149	0.141;0.012;0.012;0.004;0.007;0.001	T	0.29822	-0.9999	10	0.59425	D	0.04	.	13.0621	0.59012	0.0:0.0:1.0:0.0	.	46;67;107;82;82;107	E9PD40;B4DI75;Q08495;B3KRH3;E9PEJ0;Q08495-2	.;.;DEMA_HUMAN;.;.;.	R	82;107;107;107;82;67;67;82;82;107;107;46;107;107;107;107;107	ENSP00000429116:G82R;ENSP00000430600:G107R;ENSP00000370879:G107R;ENSP00000416111:G107R;ENSP00000397904:G82R;ENSP00000430618:G67R;ENSP00000428733:G82R;ENSP00000430382:G82R;ENSP00000428415:G107R;ENSP00000265800:G107R;ENSP00000429948:G107R;ENSP00000350977:G107R;ENSP00000401291:G107R;ENSP00000427866:G107R;ENSP00000429377:G107R	ENSP00000265800:G107R	G	+	1	0	EPB49	21982900	0.994000	0.37717	0.977000	0.42913	0.023000	0.10783	5.047000	0.64232	2.472000	0.83506	0.650000	0.86243	GGA	DMTN-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000375170.1		+	ENST00000517600.1	Missense_Mutation	SNP	8 : 21926954 - 21926954 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	195	35
KIF13B	23303	broad.mit.edu	37	8	29033584	29033584	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:29033584C>T	ENST00000524189.1	-	10	984		c.e10+1		KIF13B_ENST00000521515.1_Splice_Site	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	NA					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		AACAAACTTACTTTGAGCAGC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	64	66			NA	NA	8		NA											NA				29033584		1876	4100	5976	SO:0001630	splice_region_variant			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892	23303	23303		Kinesins	14405	protein-coding gene	gene with protein product		607350			NA	9734811, 10859302, 16864656	Standard		NM_015254	NA	Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.945+1G>A	8.37:g.29033584C>T		NA	O75134|Q9BYJ6	37	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858644	0.91433	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1722	0.93583	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF13B	29089503	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.588000	0.82629	2.763000	0.94921	0.563000	0.77884	.	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376878.1	Intron	-	ENST00000524189.1	Splice_Site	SNP	8 : 29033584 - 29033584 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	106	7
HR	55806	broad.mit.edu	37	8	21982906	21982906	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21982906C>T	ENST00000381418.4	-	5	3148	c.1668G>A	c.(1666-1668)aaG>aaA	p.K556K	HR_ENST00000312841.8_Silent_p.K556K	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	556							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TGAGCAGGTGCTTGGCGAGGC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	30	29			NA	NA	8		NA											NA				21982906		2202	4298	6500	SO:0001819	synonymous_variant			AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453	55806	55806			5172	protein-coding gene	gene with protein product		602302	hairless (mouse) homolog, hairless homolog (mouse)	ALUNC	NA	10051399, 9463324	Standard		NM_018411	NA	Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.1668G>A	8.37:g.21982906C>T		NA	Q6GS30|Q96H33|Q9NPE1	37	CCDS6022.1																																																																																			HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214213.1		-	ENST00000381418.4	Silent	SNP	8 : 21982906 - 21982906 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	100	17
KLHL6	89857	broad.mit.edu	37	3	183209999	183209999	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183209999G>A	ENST00000341319.3	-	7	1617	c.1582C>T	c.(1582-1584)Ctg>Ttg	p.L528L		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	528										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TAGGCGTACAGCGCTCTCATG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	19	19			NA	NA	3		NA											NA				183209999		2201	4299	6500	SO:0001819	synonymous_variant			AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578	89857	89857		Kelch-like, BTB/POZ domain containing	18653	protein-coding gene	gene with protein product	kelch-like protein KLHL6	614214	kelch-like 6 (Drosophila)		NA	11214971, 12617994	Standard	NM_130446	NM_130446	NA	Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.1582C>T	3.37:g.183209999G>A		NA	B2RB31|D3DNS8|Q8N5I1|Q8N892	37	CCDS3245.2																																																																																			KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000309024.1		-	ENST00000341319.3	Silent	SNP	3 : 183209999 - 183209999 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	199	37
HDLBP	3069	broad.mit.edu	37	2	242192398	242192398	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242192398T>C	ENST00000391975.1	-	11	1573	c.1346A>G	c.(1345-1347)cAc>cGc	p.H449R	HDLBP_ENST00000391976.2_Missense_Mutation_p.H449R|HDLBP_ENST00000310931.4_Missense_Mutation_p.H449R|HDLBP_ENST00000427183.2_Missense_Mutation_p.H416R	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	449	KH 5.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CCCAATGAGGTGCCTGTGGAA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													196	156	170			NA	NA	2		NA											NA				242192398		2203	4300	6503	SO:0001583	missense				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677	3069	3069			4857	protein-coding gene	gene with protein product		142695	vigilin	VGL	NA	1318310, 8390966	Standard	NM_203346	NM_005336	NA	Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.1346A>G	2.37:g.242192398T>C	ENSP00000375836:p.His449Arg	NA	Q53QU2|Q9UCY3	37	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	28.0|28.0	4.885819|4.885819	0.91814|0.91814	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183|ENST00000453141	T;T;T;T|.	0.25579|.	1.79;1.79;1.79;1.79|.	5.49|5.49	5.49|5.49	0.81192|0.81192	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59211|0.59211	0.2177|0.2177	L|L	0.41573|0.41573	1.285|1.285	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.81914|.	0.995;0.988|.	T|T	0.56177|0.56177	-0.8022|-0.8022	10|5	0.72032|.	D|.	0.01|.	-31.8082|-31.8082	14.4589|14.4589	0.67435|0.67435	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	416;449|.	E7EM71;Q00341|.	.;VIGLN_HUMAN|.	R|A	449;449;449;416|327	ENSP00000375836:H449R;ENSP00000375837:H449R;ENSP00000312042:H449R;ENSP00000399139:H416R|.	ENSP00000312042:H449R|.	H|T	-|-	2|1	0|0	HDLBP|HDLBP	241841071|241841071	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.247000|7.247000	0.78257|0.78257	2.209000|2.209000	0.71365|0.71365	0.533000|0.533000	0.62120|0.62120	CAC|ACC	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257245.5		-	ENST00000391975.1	Missense_Mutation	SNP	2 : 242192398 - 242192398 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	548	146
FRY	10129	broad.mit.edu	37	13	32745307	32745307	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32745307C>T	ENST00000380250.3	+	18	2547	c.2051C>T	c.(2050-2052)tCg>tTg	p.S684L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	684					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTCCTTGATTCGTCCCTGAAG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	99	101			NA	NA	13		NA											NA				32745307		1982	4190	6172	SO:0001583	missense			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910	10129	10129			20367	protein-coding gene	gene with protein product		614818	chromosome 13 open reading frame 14	C13orf14	NA	14702039, 8812419	Standard	NM_023037	NM_023037	NA	Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.2051C>T	13.37:g.32745307C>T	ENSP00000369600:p.Ser684Leu	NA	Q9Y3N6	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040804	0.75732	.	.	ENSG00000073910	ENST00000380250	T	0.65549	-0.16	6.07	5.18	0.71444	.	0.254141	0.38381	N	0.001719	T	0.61578	0.2358	L	0.59436	1.845	0.80722	D	1	B	0.32507	0.373	B	0.35859	0.212	T	0.58482	-0.7629	10	0.31617	T	0.26	.	16.8863	0.86077	0.0:0.8721:0.1279:0.0	.	684	Q5TBA9	FRY_HUMAN	L	684	ENSP00000369600:S684L	ENSP00000369600:S684L	S	+	2	0	FRY	31643307	0.871000	0.30034	0.523000	0.27875	0.957000	0.61999	4.474000	0.60203	2.890000	0.99128	0.650000	0.86243	TCG	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044405.1		+	ENST00000380250.3	Missense_Mutation	SNP	13 : 32745307 - 32745307 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	445	59
OR8B8	26493	broad.mit.edu	37	11	124310687	124310687	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124310687T>G	ENST00000328064.2	-	1	367	c.295A>C	c.(295-297)Act>Cct	p.T99P		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AAGAGCTGAGTCATACACCCT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	92	92			NA	NA	11		NA											NA				124310687		2201	4299	6500	SO:0001583	missense			AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125	26493	26493		GPCR / Class A : Olfactory receptors	8477	protein-coding gene	gene with protein product					NA	9119360	Standard	NM_012378	NM_012378	NA	Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.295A>C	11.37:g.124310687T>G	ENSP00000330280:p.Thr99Pro	NA	A1L446|Q96RC8	37	CCDS8446.1	.	.	.	.	.	.	.	.	.	.	T	16.38	3.106168	0.56291	.	.	ENSG00000197125	ENST00000328064	T	0.08896	3.04	3.52	3.52	0.40303	GPCR, rhodopsin-like superfamily (1);	0.138563	0.33346	N	0.005003	T	0.28665	0.0710	M	0.94142	3.5	0.31201	N	0.699808	D	0.56746	0.977	P	0.57620	0.824	T	0.43734	-0.9373	10	0.87932	D	0	.	6.2589	0.20889	0.0:0.1584:0.0:0.8416	.	99	Q15620	OR8B8_HUMAN	P	99	ENSP00000330280:T99P	ENSP00000330280:T99P	T	-	1	0	OR8B8	123815897	0.000000	0.05858	1.000000	0.80357	0.986000	0.74619	-1.976000	0.01497	1.831000	0.53308	0.455000	0.32223	ACT	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387056.1		-	ENST00000328064.2	Missense_Mutation	SNP	11 : 124310687 - 124310687 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	412	35
CGA	1081	broad.mit.edu	37	6	87796039	87796039	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:87796039T>C	ENST00000369582.2	-	3	302	c.202A>G	c.(202-204)Aag>Gag	p.K68E		NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide	68					hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		ATCGTCTTCTTGGACCTTAGT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													185	182	183			NA	NA	6		NA											NA				87796039		2203	4300	6503	SO:0001583	missense			V00518	CCDS5007.1, CCDS75492.1	6q14-q21	2013-02-26			ENSG00000135346	ENSG00000135346	1081	1081		Endogenous ligands	1885	protein-coding gene	gene with protein product	follicle-stimulating hormone alpha subunit, chorionic gonadotropin, alpha polypeptide, luteinizing hormone alpha chain, lutropin alpha chain, thyroid-stimulating hormone alpha chain, glycoprotein hormones alpha chain	118850			NA	6286817	Standard	NM_000735	NM_000735	NA	Approved	HCG, GPHa, GPHA1, FSHA, LHA, TSHA	uc021zci.1	P01215	OTTHUMG00000015161	ENST00000369582.2:c.202A>G	6.37:g.87796039T>C	ENSP00000358595:p.Lys68Glu	NA		37	CCDS5007.1	.	.	.	.	.	.	.	.	.	.	T	16.67	3.187126	0.57909	.	.	ENSG00000135346	ENST00000369582	.	.	.	5.62	4.45	0.53987	.	0.129166	0.64402	D	0.000001	T	0.56381	0.1981	M	0.62723	1.935	0.50039	D	0.999847	D	0.55385	0.971	P	0.54544	0.755	T	0.62101	-0.6925	9	0.62326	D	0.03	-16.9707	12.9504	0.58397	0.0:0.0:0.1354:0.8646	.	68	P01215	GLHA_HUMAN	E	68	.	ENSP00000358595:K68E	K	-	1	0	CGA	87852758	1.000000	0.71417	1.000000	0.80357	0.169000	0.22640	5.704000	0.68347	0.948000	0.37687	-0.399000	0.06403	AAG	CGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041425.1		-	ENST00000369582.2	Missense_Mutation	SNP	6 : 87796039 - 87796039 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	903	141
PLEC	5339	broad.mit.edu	37	8	144996821	144996821	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144996821C>A	ENST00000322810.4	-	31	7856	c.7687G>T	c.(7687-7689)Gag>Tag	p.E2563*	PLEC_ENST00000356346.3_Nonsense_Mutation_p.E2412*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.E2453*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.E2430*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.E2404*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.E2426*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.E2394*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.E2426*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.E2449*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2563	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTCACCTTCTCCTGGGTGGCG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	43	42			NA	NA	8		NA											NA				144996821		2185	4279	6464	SO:0001587	stop_gained			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209	5339	5339			9069	protein-coding gene	gene with protein product		601282	plectin 1, intermediate filament binding protein, 500kD, epidermolysis bullosa simplex 1 (Ogna), plectin 1, intermediate filament binding protein 500kDa	EBS1, PLEC1	NA	8633055, 8696340	Standard	NM_000445	XM_005250976	NA	Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7687G>T	8.37:g.144996821C>A	ENSP00000323856:p.Glu2563*	NA	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	50	16.408845	0.99862	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	.	.	.	4.29	4.29	0.51040	.	0.167572	0.35970	U	0.002871	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	16.518	0.84306	0.0:1.0:0.0:0.0	.	.	.	.	X	2426;2430;2426;2394;2563;2404;2412;2453;2449	.	ENSP00000323856:E2563X	E	-	1	0	PLEC	145068809	1.000000	0.71417	0.999000	0.59377	0.825000	0.46686	2.154000	0.42291	2.228000	0.72767	0.549000	0.68633	GAG	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383281.1		-	ENST00000322810.4	Nonsense_Mutation	SNP	8 : 144996821 - 144996821 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	172	29
CLEC16A	23274	broad.mit.edu	37	16	11066877	11066877	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11066877C>T	ENST00000409790.1	+	7	917	c.687C>T	c.(685-687)agC>agT	p.S229S	CLEC16A_ENST00000409552.3_Silent_p.S227S	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	229										breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TCATTGGGAGCCATGTGATCG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	77	77			NA	NA	16		NA											NA				11066877		1967	4164	6131	SO:0001819	synonymous_variant			AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532	23274	23274		C-type lectin domain containing	29013	protein-coding gene	gene with protein product		611303	KIAA0350	KIAA0350	NA	9205841, 17632545	Standard	NM_015226	NM_015226	NA	Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.687C>T	16.37:g.11066877C>T		NA	O15058|Q6ZTB2	37	CCDS45409.1																																																																																			CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328540.2		+	ENST00000409790.1	Silent	SNP	16 : 11066877 - 11066877 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	79	19
ZXDC	79364	broad.mit.edu	37	3	126185060	126185060	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126185060C>T	ENST00000389709.3	-	5	1432	c.1379G>A	c.(1378-1380)aGa>aAa	p.R460K	ZXDC_ENST00000336332.5_Missense_Mutation_p.R460K	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	460					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		GGTGAAGAGTCTGTTGCAGGT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	94	91			NA	NA	3		NA											NA				126185060		2157	4274	6431	SO:0001583	missense			AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476	79364	79364		Zinc fingers, C2H2-type	28160	protein-coding gene	gene with protein product		615746			NA	8619474, 9110174	Standard	NM_025112	XM_005247757	NA	Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.1379G>A	3.37:g.126185060C>T	ENSP00000374359:p.Arg460Lys	NA	Q7L3L1|Q8NAU2	37	CCDS43145.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.607080	0.28623	.	.	ENSG00000070476	ENST00000389709;ENST00000336332	T;T	0.35789	1.29;1.29	5.23	4.11	0.48088	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.056668	0.64402	D	0.000003	T	0.15392	0.0371	N	0.13043	0.29	0.28752	N	0.90137	B;B	0.20368	0.035;0.044	B;B	0.20577	0.017;0.03	T	0.33292	-0.9874	10	0.02654	T	1	-20.3099	5.432	0.16458	0.0:0.7589:0.0:0.2411	.	460;460	Q2QGD7-2;Q2QGD7	.;ZXDC_HUMAN	K	460	ENSP00000374359:R460K;ENSP00000337694:R460K	ENSP00000337694:R460K	R	-	2	0	ZXDC	127667750	1.000000	0.71417	0.716000	0.30569	0.648000	0.38561	5.981000	0.70524	2.593000	0.87608	0.591000	0.81541	AGA	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370327.2		-	ENST00000389709.3	Missense_Mutation	SNP	3 : 126185060 - 126185060 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	373	18
VPS13B	157680	broad.mit.edu	37	8	100147882	100147882	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:100147882C>T	ENST00000358544.2	+	11	1595	c.1484C>T	c.(1483-1485)aCa>aTa	p.T495I	VPS13B_ENST00000355155.1_Missense_Mutation_p.T495I|VPS13B_ENST00000395996.1_Missense_Mutation_p.T495I|VPS13B_ENST00000357162.2_Missense_Mutation_p.T495I	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	495					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ACATACCTTACAAATTCATTG	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(161;2205 2542 7338 31318)							NA				0													137	121	126			NA	NA	8		NA											NA				100147882		2202	4300	6502	SO:0001583	missense			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549	157680	157680			2183	protein-coding gene	gene with protein product		607817	Cohen syndrome 1	CHS1, COH1	NA	7920642, 15498460	Standard	NM_184042	NM_181661	NA	Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.1484C>T	8.37:g.100147882C>T	ENSP00000351346:p.Thr495Ile	NA	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231371	0.79688	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	T;T;T;T	0.78364	-1.17;-0.46;-0.46;-0.17	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000002	D	0.83229	0.5209	L	0.29908	0.895	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.87578	0.998;0.996;0.998;0.974	D	0.84951	0.0871	10	0.72032	D	0.01	.	19.4358	0.94794	0.0:1.0:0.0:0.0	.	495;495;495;495	Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4	.;VP13B_HUMAN;.;.	I	495	ENSP00000347281:T495I;ENSP00000349685:T495I;ENSP00000351346:T495I;ENSP00000379318:T495I	ENSP00000347281:T495I	T	+	2	0	VPS13B	100217058	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.204000	0.77872	2.663000	0.90544	0.655000	0.94253	ACA	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277138.1		+	ENST00000358544.2	Missense_Mutation	SNP	8 : 100147882 - 100147882 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	214	41
DHX9	1660	broad.mit.edu	37	1	182847247	182847247	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182847247C>T	ENST00000367549.3	+	20	2400	c.2290C>T	c.(2290-2292)Cga>Tga	p.R764*	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	764	Helicase C-terminal.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						ACGGAAAGGGCGAGCTGGCCG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(69;210 1162 3697 13559 39565)							NA				0													94	89	91			NA	NA	1		NA											NA				182847247		1940	4144	6084	SO:0001587	stop_gained			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829	1660	1660		DEAH-boxes	2750	protein-coding gene	gene with protein product	NDH II, RNA helicase A	603115	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin), DEAH (Asp-Glu-Ala-His) box polypeptide 9	LKP, DDX9	NA	8344961, 9111062	Standard	NM_030588	NM_001357	NA	Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.2290C>T	1.37:g.182847247C>T	ENSP00000356520:p.Arg764*	NA	B2RNV4|Q5VY62|Q6PD69|Q99556	37	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	C	40	8.420901	0.98803	.	.	ENSG00000135829	ENST00000367549	.	.	.	5.78	3.87	0.44632	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.062	0.47953	0.4634:0.4233:0.1132:0.0	.	.	.	.	X	764	.	ENSP00000356520:R764X	R	+	1	2	DHX9	181113870	0.868000	0.29978	0.794000	0.32065	0.971000	0.66376	1.706000	0.37878	0.743000	0.32719	-0.169000	0.13324	CGA	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085522.2		+	ENST00000367549.3	Nonsense_Mutation	SNP	1 : 182847247 - 182847247 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	387	66
TSC2	7249	broad.mit.edu	37	16	2120560	2120560	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2120560C>T	ENST00000219476.3	+	17	2450	c.1820C>T	c.(1819-1821)gCg>gTg	p.A607V	TSC2_ENST00000353929.4_Missense_Mutation_p.A607V|TSC2_ENST00000382538.6_Missense_Mutation_p.A558V|TSC2_ENST00000568454.1_Missense_Mutation_p.A618V|TSC2_ENST00000350773.4_Missense_Mutation_p.A607V|TSC2_ENST00000401874.2_Missense_Mutation_p.A607V|TSC2_ENST00000439673.2_Missense_Mutation_p.A570V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	607			A -> T.		cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CTGCCAATCGCGAGCAGCATC	0.622		NA	D, Mis, N, F, S			hamartoma, renal cell			Tuberous Sclerosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		E, O	0			GRCh37	CM090848	TSC2	M		C	VAL/ALA,VAL/ALA,VAL/ALA	0,4396		0,0,2198	68	51	57		1820,1820,1820	5.5	1	16		57	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	TSC2	NM_000548.3,NM_001077183.1,NM_001114382.1	64,64,64	0,1,6497	TT,TC,CC	NA	0.0116,0.0,0.0077	benign,benign,benign	607/1808,607/1741,607/1785	2120560	1,12995	2198	4300	6498	SO:0001583	missense	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197	7249	7249			12363	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 160	191092		TSC4	NA	1303246, 7558029	Standard	NM_000548	NM_001077183	NA	Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1820C>T	16.37:g.2120560C>T	ENSP00000219476:p.Ala607Val	NA	A7E2E2|B4DIQ7|B4DRN2|C9J378|O75275|Q4LE71|Q8TAZ1	37	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770716	0.69992	0.0	1.16E-4	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.51	5.51	0.81932	Tuberin-type domain (1);Armadillo-type fold (1);	0.052861	0.85682	D	0.000000	D	0.89022	0.6597	L	0.38175	1.15	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.997;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.988;0.936;0.981;0.98;0.999;0.995	D	0.86560	0.1840	10	0.27785	T	0.31	-33.4261	19.4153	0.94694	0.0:1.0:0.0:0.0	.	558;570;607;607;607;607	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	V	607;607;607;570;558;607	ENSP00000219476:A607V;ENSP00000384468:A607V;ENSP00000248099:A607V;ENSP00000399232:A570V;ENSP00000371978:A558V;ENSP00000344383:A607V	ENSP00000219476:A607V	A	+	2	0	TSC2	2060561	1.000000	0.71417	0.998000	0.56505	0.610000	0.37248	5.946000	0.70234	2.595000	0.87683	0.561000	0.74099	GCG	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250657.2		+	ENST00000219476.3	Missense_Mutation	SNP	16 : 2120560 - 2120560 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	417	79
OR6X1	390260	broad.mit.edu	37	11	123624503	123624503	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123624503G>A	ENST00000327930.2	-	1	750	c.724C>T	c.(724-726)Cac>Tac	p.H242Y		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ACTGTCAGGTGCGAGGCACAG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	83	90			NA	NA	11		NA											NA				123624503		2202	4299	6501	SO:0001583	missense			AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931	390260	390260		GPCR / Class A : Olfactory receptors	14737	protein-coding gene	gene with protein product					NA		Standard	NM_001005188	NM_001005188	NA	Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.724C>T	11.37:g.123624503G>A	ENSP00000333724:p.His242Tyr	NA	B9EGW9|Q6IFA0	37	CCDS31695.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858060	0.71834	.	.	ENSG00000221931	ENST00000327930	T	0.00314	8.14	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01156	0.0038	H	0.97158	3.95	0.46954	D	0.999262	D	0.89917	1.0	D	0.91635	0.999	T	0.41342	-0.9514	9	0.87932	D	0	-14.9416	14.1152	0.65149	0.0:0.0:1.0:0.0	.	242	Q8NH79	OR6X1_HUMAN	Y	242	ENSP00000333724:H242Y	ENSP00000333724:H242Y	H	-	1	0	OR6X1	123129713	1.000000	0.71417	0.994000	0.49952	0.753000	0.42808	8.908000	0.92640	2.191000	0.70037	0.650000	0.86243	CAC	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387436.1		-	ENST00000327930.2	Missense_Mutation	SNP	11 : 123624503 - 123624503 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	464	76
ZNF14	7561	broad.mit.edu	37	19	19823186	19823186	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19823186T>C	ENST00000344099.3	-	4	1042	c.904A>G	c.(904-906)Agt>Ggt	p.S302G		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TTCTCTCCACTATGAGTCCTT	0.388		NA											T	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0													42	42	42			NA	NA	19		NA											NA				19823186		2203	4300	6503	SO:0001583	missense			AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10				7561	7561		Zinc fingers, C2H2-type, -	12924	protein-coding gene	gene with protein product		194556	zinc finger protein 14 (KOX 6)		NA		Standard	NM_021030	NM_021030	NA	Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.904A>G	19.37:g.19823186T>C	ENSP00000340514:p.Ser302Gly	NA	B9EGA4|Q9ULZ5	37	CCDS12409.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	17.64	3.438753	0.62955	.	.	ENSG00000105708	ENST00000344099	T	0.19669	2.13	1.8	1.8	0.24995	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21761	0.0524	L	0.60067	1.865	0.22240	N	0.999268	P	0.36086	0.536	B	0.40256	0.324	T	0.25222	-1.0138	9	0.87932	D	0	.	3.952	0.09374	0.3229:0.0:0.0:0.6771	.	302	P17017	ZNF14_HUMAN	G	302	ENSP00000340514:S302G	ENSP00000340514:S302G	S	-	1	0	ZNF14	19684186	1.000000	0.71417	0.031000	0.17742	0.777000	0.43975	2.010000	0.40913	0.811000	0.34303	0.383000	0.25322	AGT	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460775.1		-	ENST00000344099.3	Missense_Mutation	SNP	19 : 19823186 - 19823186 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	236	10
ABCA3	21	broad.mit.edu	37	16	2347331	2347331	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2347331G>A	ENST00000382381.3	-	16	2799	c.2088C>T	c.(2086-2088)taC>taT	p.Y696Y	ABCA3_ENST00000301732.5_Splice_Site_p.Y754Y			Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	754	ABC transporter 1.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				ACCGCTCACCGTATTTCTGCT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4396		0,0,2198	63	51	55		2262	-12.3	0	16		55	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice	ABCA3	NM_001089.2		0,1,6497	AA,AG,GG	NA	0.0116,0.0,0.0077		754/1705	2347331	1,12995	2198	4300	6498	SO:0001630	splice_region_variant			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972	21	21		ATP binding cassette transporters / subfamily A	33	protein-coding gene	gene with protein product		601615		ABC3	NA	8706931	Standard	NM_001089	NM_001089	NA	Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000382381.3:c.2089+1C>T	16.37:g.2347331G>A		NA	B2RU09|Q54A95|Q92473	37																																																																																				ABCA3-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000435440.1	Silent	-	ENST00000382381.3	Splice_Site	SNP	16 : 2347331 - 2347331 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	338	74
CCSER1	401145	broad.mit.edu	37	4	91230540	91230540	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:91230540G>T	ENST00000509176.1	+	2	1393	c.1105G>T	c.(1105-1107)Gca>Tca	p.A369S	CCSER1_ENST00000432775.2_Missense_Mutation_p.A369S|CCSER1_ENST00000333691.8_Missense_Mutation_p.A369S	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1	NA											NA						TAACCTACCAGCAGATAGTGA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	96	98			NA	NA	4		NA											NA				91230540		1834	4092	5926	SO:0001583	missense				CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305	401145	401145			29349	protein-coding gene	gene with protein product			family with sequence similarity 190, member A	FAM190A	NA	11214970	Standard	NM_001145065	NM_001145065	NA	Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.1105G>T	4.37:g.91230540G>T	ENSP00000425040:p.Ala369Ser	NA		37	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	G	3.136	-0.177356	0.06380	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.42900	1.51;0.96;1.51	4.72	1.95	0.26073	.	0.765331	0.11598	N	0.547988	T	0.24736	0.0600	N	0.14661	0.345	0.09310	N	1	B;B;B	0.25904	0.0;0.069;0.137	B;B;B	0.29942	0.003;0.055;0.109	T	0.29852	-0.9998	10	0.12766	T	0.61	-1.2731	9.6144	0.39683	0.2405:0.0:0.7595:0.0	.	369;369;369	Q9C0I3-2;Q9C0I3;E7EUW0	.;F190A_HUMAN;.	S	369	ENSP00000425040:A369S;ENSP00000389283:A369S;ENSP00000329482:A369S	ENSP00000329482:A369S	A	+	1	0	FAM190A	91449563	0.000000	0.05858	0.002000	0.10522	0.329000	0.28539	0.769000	0.26604	0.257000	0.21650	0.585000	0.79938	GCA	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363109.3		+	ENST00000509176.1	Missense_Mutation	SNP	4 : 91230540 - 91230540 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	364	75
PMF1	11243	broad.mit.edu	37	1	156209359	156209359	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156209359G>T	ENST00000368273.4	+	5	601	c.591G>T	c.(589-591)agG>agT	p.R197S	PMF1-BGLAP_ENST00000368276.4_Intron|PMF1_ENST00000368279.3_Missense_Mutation_p.G175V|PMF1-BGLAP_ENST00000490491.1_Intron|PMF1_ENST00000565805.1_Intron|PMF1-BGLAP_ENST00000320139.5_Intron|PMF1_ENST00000368277.3_Missense_Mutation_p.R195S|PMF1_ENST00000567140.1_Intron	NM_001199654.1	NP_001186583.1			polyamine-modulated factor 1	NA										kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					GAGAACAGAGGGAGCTGGTTG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(32;764 914 7316 34504 37150)|Ovarian(64;846 1195 21996 34382 40415)							NA				0													134	131	132			NA	NA	1		NA											NA				156209359		2203	4300	6503	SO:0001583	missense			AF141310	CCDS30886.1, CCDS55648.1, CCDS55649.1	1q22	2013-07-03			ENSG00000160783	ENSG00000160783	11243	11243			9112	protein-coding gene	gene with protein product		609176			NA	10419538	Standard	NM_007221	NM_007221	NA	Approved			Q6P1K2	OTTHUMG00000177123	ENST00000368273.4:c.591G>T	1.37:g.156209359G>T	ENSP00000357256:p.Arg197Ser	NA		37	CCDS55648.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.53|16.53	3.148839|3.148839	0.57151|0.57151	.|.	.|.	ENSG00000160783|ENSG00000160783	ENST00000368279|ENST00000368273;ENST00000368277	T|T;T	0.57907|0.33654	0.37|1.4;1.5	5.07|5.07	2.14|2.14	0.27477|0.27477	.|.	.|.	.|.	.|.	.|.	T|T	0.12475|0.12475	0.0303|0.0303	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	B|B	0.29301|0.23377	0.241|0.084	B|B	0.38985|0.20767	0.287|0.031	T|T	0.06807|0.06807	-1.0806|-1.0806	9|9	0.87932|0.72032	D|D	0|0.01	.|.	9.4035|9.4035	0.38447|0.38447	0.256:0.0:0.744:0.0|0.256:0.0:0.744:0.0	.|.	175|195	Q5TCK1|Q6P1K2	.|PMF1_HUMAN	V|S	175|197;195	ENSP00000357262:G175V|ENSP00000357256:R197S;ENSP00000357260:R195S	ENSP00000357262:G175V|ENSP00000357256:R197S	G|R	+|+	2|3	0|2	PMF1|PMF1	154475983|154475983	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	0.658000|0.658000	0.24979|0.24979	0.408000|0.408000	0.25621|0.25621	-0.810000|-0.810000	0.03169|0.03169	GGG|AGG	PMF1-005	KNOWN	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040864.2		+	ENST00000368273.4	Missense_Mutation	SNP	1 : 156209359 - 156209359 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	678	142
XPC	7508	broad.mit.edu	37	3	14207064	14207064	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14207064C>A	ENST00000285021.7	-	6	857	c.643G>T	c.(643-645)Gca>Tca	p.A215S	XPC_ENST00000449060.2_Missense_Mutation_p.A178S	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	215					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAGCCATTTGCTAGCAGGCAG	0.527		NA	Mis, N, F, S			skin basal cell, skin squamous cell, melanoma		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	xeroderma pigmentosum, complementation group C		E	0													55	54	54			NA	NA	3		NA											NA				14207064		1991	4176	6167	SO:0001583	missense	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767	7508	7508			12816	protein-coding gene	gene with protein product	xeroderma pigmentosum group C protein	613208			NA	1522891	Standard	NM_004628	NM_004628	NA	Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.643G>T	3.37:g.14207064C>A	ENSP00000285021:p.Ala215Ser	NA	Q53GT7|Q96AX0	37	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164672	0.78339	.	.	ENSG00000154767	ENST00000285021;ENST00000449060	T;T	0.65178	-0.14;-0.14	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.75831	0.3903	M	0.73598	2.24	0.80722	D	1	D;D	0.63046	0.99;0.992	P;P	0.56042	0.73;0.79	T	0.76130	-0.3072	10	0.45353	T	0.12	-17.5158	19.5002	0.95091	0.0:1.0:0.0:0.0	.	178;215	E9PH69;Q01831	.;XPC_HUMAN	S	215;178	ENSP00000285021:A215S;ENSP00000404002:A178S	ENSP00000285021:A215S	A	-	1	0	XPC	14182068	1.000000	0.71417	0.895000	0.35142	0.123000	0.20343	6.688000	0.74557	2.604000	0.88044	0.563000	0.77884	GCA	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340517.3		-	ENST00000285021.7	Missense_Mutation	SNP	3 : 14207064 - 14207064 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	115	26
PTGER4	5734	broad.mit.edu	37	5	40681899	40681899	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:40681899C>A	ENST00000302472.3	+	2	1828	c.804C>A	c.(802-804)atC>atA	p.I268I		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	268					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GCGCCGAGATCCAGATGGTCA	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	29	28			NA	NA	5		NA											NA				40681899		2122	4045	6167	SO:0001819	synonymous_variant			L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522	5734	5734		GPCR / Class A : Prostanoid receptors	9596	protein-coding gene	gene with protein product		601586			NA	7759114, 8661119	Standard	NM_000958	NM_000958	NA	Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.804C>A	5.37:g.40681899C>A		NA	Q3MJ87	37	CCDS3930.1																																																																																			PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000211578.2		+	ENST00000302472.3	Silent	SNP	5 : 40681899 - 40681899 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	62
NCEH1	57552	broad.mit.edu	37	3	172365723	172365723	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:172365723C>T	ENST00000475381.1	-	2	553	c.320G>A	c.(319-321)cGc>cAc	p.R107H	NCEH1_ENST00000543711.1_Intron|NCEH1_ENST00000273512.3_Missense_Mutation_p.R139H|NCEH1_ENST00000538775.1_Missense_Mutation_p.R139H			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	107					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						AACGACGCTGCGTTTCAGTGG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	68	71			NA	NA	3		NA											NA				172365723		2203	4300	6503	SO:0001583	missense			AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959	57552	57552			29260	protein-coding gene	gene with protein product		613234	arylacetamide deacetylase-like 1	AADACL1	NA	10718198	Standard	NM_020792	NM_001146276	NA	Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.320G>A	3.37:g.172365723C>T	ENSP00000418571:p.Arg107His	NA	B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|Q86WZ1|Q9P2I4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.30|17.30	3.353719|3.353719	0.61293|0.61293	.|.	.|.	ENSG00000144959|ENSG00000144959	ENST00000424772|ENST00000475381;ENST00000538775;ENST00000273512	.|T;T;T	.|0.58940	.|0.3;0.3;0.3	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.098474	.|0.64402	.|D	.|0.000003	T|T	0.73946|0.73946	0.3652|0.3652	M|M	0.75085|0.75085	2.285|2.285	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;P	.|0.68483	.|0.958;0.819	T|T	0.76170|0.76170	-0.3057|-0.3057	5|10	.|0.87932	.|D	.|0	-21.2305|-21.2305	13.348|13.348	0.60584|0.60584	0.0:0.9279:0.0:0.0721|0.0:0.9279:0.0:0.0721	.|.	.|139;107	.|F5H7K4;Q6PIU2	.|.;NCEH1_HUMAN	T|H	130|107;139;139	.|ENSP00000418571:R107H;ENSP00000442464:R139H;ENSP00000273512:R139H	.|ENSP00000273512:R139H	A|R	-|-	1|2	0|0	NCEH1|NCEH1	173848417|173848417	1.000000|1.000000	0.71417|0.71417	0.856000|0.856000	0.33681|0.33681	0.020000|0.020000	0.10135|0.10135	4.529000|4.529000	0.60588|0.60588	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	GCA|CGC	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000346367.3		-	ENST00000475381.1	Missense_Mutation	SNP	3 : 172365723 - 172365723 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	70
TMEM131	23505	broad.mit.edu	37	2	98422056	98422056	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98422056T>C	ENST00000186436.5	-	20	2394	c.2166A>G	c.(2164-2166)ttA>ttG	p.L722L		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	722						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TATTGCCCCGTAATCGTTTAT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													192	202	199			NA	NA	2		NA											NA				98422056		1817	4076	5893	SO:0001819	synonymous_variant			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568	23505	23505			30366	protein-coding gene	gene with protein product		615659			NA	9039502, 10996388	Standard	XM_371542	NM_015348	NA	Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.2166A>G	2.37:g.98422056T>C		NA		37	CCDS46368.1																																																																																			TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329285.2		-	ENST00000186436.5	Silent	SNP	2 : 98422056 - 98422056 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1403	315
TCF3	6929	broad.mit.edu	37	19	1615576	1615576	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1615576C>T	ENST00000395423.3	-	14	1569	c.1542G>A	c.(1540-1542)acG>acA	p.T514T	TCF3_ENST00000453954.2_Intron|TCF3_ENST00000344749.5_Intron|TCF3_ENST00000262965.5_Intron|TCF3_ENST00000588136.1_Intron			P15923	TFE2_HUMAN	transcription factor 3	533					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		GGGGGAAGAGCGTGGGGCCCG	0.701		NA	T	PBX1, HLF, TFPT	pre B-ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001819	synonymous_variant			M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564	6929	6929		Basic helix-loop-helix proteins	11633	protein-coding gene	gene with protein product	transcription factor E2-alpha, immunoglobulin transcription factor 1, kappa-E2-binding factor, E2A immunoglobulin enhancer-binding factor E12/E47, VDR interacting repressor	147141			NA	2308859, 1967983	Standard	NM_003200	NM_003200	NA	Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000395423.3:c.1542G>A	19.37:g.1615576C>T		NA	P15883|Q14208|Q14635|Q14636|Q2TB40|Q9UPI9	37																																																																																				TCF3-003	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000449374.1		-	ENST00000395423.3	Silent	SNP	19 : 1615576 - 1615576 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	321	55
WDR24	84219	broad.mit.edu	37	16	734755	734755	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:734755G>A	ENST00000293883.4	-	9	3111	c.2352C>T	c.(2350-2352)ggC>ggT	p.G784G	WDR24_ENST00000248142.6_Silent_p.G914G	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN	WD repeat domain 24	914										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CGCAGAGGTGGCCGCAGCCTG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	15	15			NA	NA	16		NA											NA				734755		2166	4264	6430	SO:0001819	synonymous_variant			AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580	84219	84219		WD repeat domain containing	20852	protein-coding gene	gene with protein product			chromosome 16 open reading frame 21	C16orf21	NA	11230166	Standard	NM_032259	NM_032259	NA	Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000293883.4:c.2352C>T	16.37:g.734755G>A		NA	A2IDB8|D3DU59|Q96GC7|Q9H0B7	37	CCDS10420.1																																																																																			WDR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206852.1		-	ENST00000293883.4	Silent	SNP	16 : 734755 - 734755 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	69	14
KIF1B	23095	broad.mit.edu	37	1	10363814	10363814	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10363814C>T	ENST00000377081.1	+	21	2194				KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000377083.1_Silent_p.V857V|KIF1B_ENST00000377093.4_Silent_p.V857V			O60333	KIF1B_HUMAN	kinesin family member 1B	NA					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TGGAAAAAGTCTTGCCACTGA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	47	46			NA	NA	1		NA											NA				10363814		2203	4300	6503	SO:0001627	intron_variant			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523	23095	23095		Kinesins, Pleckstrin homology (PH) domain containing	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2	NA	11389829, 10762626	Standard		NM_015074	NA	Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377081.1:c.2115+6510C>T	1.37:g.10363814C>T		NA	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	37																																																																																				KIF1B-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000005106.1		+	ENST00000377081.1	Intron	SNP	1 : 10363814 - 10363814 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	225	53
SLC30A3	7781	broad.mit.edu	37	2	27479733	27479733	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27479733C>A	ENST00000233535.4	-	6	1158	c.806G>T	c.(805-807)aGc>aTc	p.S269I	SLC30A3_ENST00000447008.2_Missense_Mutation_p.S264I	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	269					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGGAAGGTGCTGATGGGGTC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	111	108			NA	NA	2		NA											NA				27479733		2203	4300	6503	SO:0001583	missense			U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194	7781	7781		Solute carriers	11014	protein-coding gene	gene with protein product		602878		ZNT3	NA	8962159	Standard		NM_003459	NA	Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.806G>T	2.37:g.27479733C>A	ENSP00000233535:p.Ser269Ile	NA	Q8TC03	37	CCDS1743.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135643	0.77662	.	.	ENSG00000115194	ENST00000233535;ENST00000447008;ENST00000445870;ENST00000432351	T;T;T	0.61392	0.11;0.11;0.11	5.34	5.34	0.76211	.	0.087859	0.85682	D	0.000000	T	0.37544	0.1007	N	0.01454	-0.855	0.49389	D	0.999782	B;B	0.26577	0.126;0.153	B;B	0.34346	0.113;0.18	T	0.49204	-0.8964	10	0.87932	D	0	-16.6047	16.9157	0.86150	0.0:1.0:0.0:0.0	.	264;269	F5H3B7;Q99726	.;ZNT3_HUMAN	I	269;264;206;220	ENSP00000233535:S269I;ENSP00000415226:S264I;ENSP00000414320:S220I	ENSP00000233535:S269I	S	-	2	0	SLC30A3	27333237	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.605000	0.82844	2.663000	0.90544	0.555000	0.69702	AGC	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250189.2		-	ENST00000233535.4	Missense_Mutation	SNP	2 : 27479733 - 27479733 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	182	70
TGFBR3	7049	broad.mit.edu	37	1	92200439	92200439	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92200439G>T	ENST00000370399.2	-	6	1145	c.462C>A	c.(460-462)ccC>ccA	p.P154P	TGFBR3_ENST00000212355.4_Silent_p.P154P|TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000525962.1_Silent_p.P154P	NM_001195684.1	NP_001182613.1	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	154					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CATTTCCATGGGGGAAGTTCC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	165	165			NA	NA	1		NA											NA				92200439		2203	4300	6503	SO:0001819	synonymous_variant			L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702	7049	7049		Proteoglycans / Cell surface : Other	11774	protein-coding gene	gene with protein product	betaglycan proteoglycan	600742	transforming growth factor, beta receptor III (betaglycan, 300kDa)		NA	1333192, 1319842	Standard	NM_003243	NM_001195684	NA	Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000370399.2:c.462C>A	1.37:g.92200439G>T		NA	A0AUW8|B9EG88|Q5T2T4|Q5U731|Q9UGI2	37	CCDS55614.1																																																																																			TGFBR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000027926.3		-	ENST00000370399.2	Silent	SNP	1 : 92200439 - 92200439 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	857	166
CDC37	11140	broad.mit.edu	37	19	10506754	10506754	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10506754G>A	ENST00000222005.2	-	2	281	c.228C>T	c.(226-228)ggC>ggT	p.G76G		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	76					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CTGCCTTGCCGCCCTCGGCCA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	92	92			NA	NA	19		NA											NA				10506754		2203	4300	6503	SO:0001819	synonymous_variant			U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401	11140	11140			1735	protein-coding gene	gene with protein product	CDC37 cell division cycle 37 homolog, Hsp90 co-chaperone Cdc37, CDC37 (cell division cycle 37, S. cerevisiae, homolog)	605065	CDC37 (cell division cycle 37, S. cerevisiae, homolog), CDC37 cell division cycle 37 homolog (S. cerevisiae), cell division cycle 37 homolog (S. cerevisiae)		NA	8703009, 8666233	Standard	NM_007065	NM_007065	NA	Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.228C>T	19.37:g.10506754G>A		NA	Q53YA2	37	CCDS12237.1																																																																																			CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451987.1		-	ENST00000222005.2	Silent	SNP	19 : 10506754 - 10506754 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1086	214
FAM65A	79567	broad.mit.edu	37	16	67574550	67574550	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67574550G>A	ENST00000540839.3	+	11	1024	c.804G>A	c.(802-804)gtG>gtA	p.V268V	FAM65A_ENST00000422602.2_Silent_p.V268V|FAM65A_ENST00000042381.4_Silent_p.V248V|FAM65A_ENST00000428437.2_Silent_p.V262V|FAM65A_ENST00000566522.1_3'UTR|FAM65A_ENST00000379312.3_Silent_p.V252V			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	252						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GAAAGCAGGTGTGGGACAGTG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													248	219	229			NA	NA	16		NA											NA				67574550		2198	4300	6498	SO:0001819	synonymous_variant			AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523	79567	79567			25836	protein-coding gene	gene with protein product					NA	11572484	Standard	NM_024519	NM_001193522	NA	Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000540839.3:c.804G>A	16.37:g.67574550G>A		NA	Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	37		.	.	.	.	.	.	.	.	.	.	G	10.65	1.410593	0.25465	.	.	ENSG00000039523	ENST00000428437	.	.	.	5.42	3.34	0.38264	.	0.000000	0.85682	D	0.000000	T	0.71533	0.3351	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74405	-0.3676	6	0.51188	T	0.08	-9.3239	14.4179	0.67163	0.0:0.0:0.732:0.268	.	.	.	.	M	243	.	ENSP00000389456:V243M	V	+	1	0	FAM65A	66132051	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.390000	0.66261	1.253000	0.44018	0.555000	0.69702	GTG	FAM65A-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000268867.2		+	ENST00000540839.3	Silent	SNP	16 : 67574550 - 67574550 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	744	133
KIF27	55582	broad.mit.edu	37	9	86518595	86518595	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86518595C>T	ENST00000297814.2	-	4	981	c.838G>A	c.(838-840)Gct>Act	p.A280T	KIF27_ENST00000334204.2_Missense_Mutation_p.A280T|KIF27_ENST00000413982.1_Missense_Mutation_p.A280T	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	280					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TCCCCAAGAGCGCTTATTACA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	THR/ALA	0,4406		0,0,2203	78	82	81		838	4.8	1	9		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIF27	NM_017576.1	58	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	280/1402	86518595	1,13005	2203	4300	6503	SO:0001583	missense			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115	55582	55582		Kinesins	18632	protein-coding gene	gene with protein product		611253			NA		Standard	NM_017576	NM_017576	NA	Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.838G>A	9.37:g.86518595C>T	ENSP00000297814:p.Ala280Thr	NA	B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	37	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471658	0.84533	0.0	1.16E-4	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.77620	-1.11;-1.11;-1.11	5.66	4.76	0.60689	Kinesin, motor domain (3);	0.000000	0.56097	D	0.000025	D	0.89750	0.6805	M	0.92077	3.27	0.52501	D	0.999955	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.68483	0.914;0.958;0.948	D	0.91639	0.5325	10	0.72032	D	0.01	.	14.0295	0.64606	0.0:0.9279:0.0:0.0721	.	280;280;280	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	T	280	ENSP00000297814:A280T;ENSP00000401688:A280T;ENSP00000333928:A280T	ENSP00000297814:A280T	A	-	1	0	KIF27	85708415	1.000000	0.71417	0.975000	0.42487	0.856000	0.48823	6.081000	0.71309	2.657000	0.90304	0.655000	0.94253	GCT	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052861.1		-	ENST00000297814.2	Missense_Mutation	SNP	9 : 86518595 - 86518595 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	480	84
CIB2	10518	broad.mit.edu	37	15	78398138	78398138	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78398138C>T	ENST00000258930.3	-	5	813	c.485G>A	c.(484-486)gGc>gAc	p.G162D	CIB2_ENST00000557846.1_Missense_Mutation_p.G113D|CIB2_ENST00000539011.1_Missense_Mutation_p.G119D|CIB2_ENST00000560618.1_Missense_Mutation_p.G119D	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	162	EF-hand 3.						calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						GCCCAGCTTGCCGTCACCGTC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													182	149	160			NA	NA	15		NA											NA				78398138		2196	4293	6489	SO:0001583	missense			BC047381	CCDS10296.1, CCDS61722.1, CCDS61723.1	15q24	2013-01-10			ENSG00000136425	ENSG00000136425	10518	10518		EF-hand domain containing	24579	protein-coding gene	gene with protein product		605564	deafness, autosomal recessive 48, Usher syndrome 1J (autosomal recessive)	DFNB48, USH1J	NA	9931475, 23023331	Standard	NM_006383	NM_006383	NA	Approved	KIP2	uc002bdb.2	O75838	OTTHUMG00000143731	ENST00000258930.3:c.485G>A	15.37:g.78398138C>T	ENSP00000258930:p.Gly162Asp	NA		37	CCDS10296.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025649	0.75390	.	.	ENSG00000136425	ENST00000258930;ENST00000539011	D;D	0.83837	-1.77;-1.77	5.59	4.67	0.58626	EF-hand-like domain (1);	0.239373	0.43110	D	0.000604	D	0.91650	0.7361	M	0.91818	3.245	0.54753	D	0.999986	D;B	0.69078	0.997;0.439	D;B	0.63957	0.92;0.328	D	0.92658	0.6139	10	0.54805	T	0.06	-22.6145	13.2955	0.60294	0.0:0.9243:0.0:0.0757	.	162;162	B4DDF0;O75838	.;CIB2_HUMAN	D	162;119	ENSP00000258930:G162D;ENSP00000442459:G119D	ENSP00000258930:G162D	G	-	2	0	CIB2	76185193	1.000000	0.71417	0.994000	0.49952	0.852000	0.48524	3.234000	0.51320	1.364000	0.46038	0.591000	0.81541	GGC	CIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000289798.1		-	ENST00000258930.3	Missense_Mutation	SNP	15 : 78398138 - 78398138 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	350	76
VDR	7421	broad.mit.edu	37	12	48238712	48238712	+	Silent	SNP	G	G	A	rs75590999		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48238712G>A	ENST00000550325.1	-	10	1623	c.1251C>T	c.(1249-1251)atC>atT	p.I417I	VDR_ENST00000535672.1_Silent_p.I335I|VDR_ENST00000395324.2_Silent_p.I367I|VDR_ENST00000229022.3_Silent_p.I367I|VDR_ENST00000549336.1_Silent_p.I367I	NM_001017536.1	NP_001017536.1	P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	367	Ligand-binding.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GGCGGCAGCGGATGTACGTCT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	113	110			NA	NA	12		NA											NA				48238712		2203	4299	6502	SO:0001819	synonymous_variant			J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424	NA	7421		Nuclear hormone receptors	12679	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 163	601769			NA	1662663	Standard		NM_001017536	NA	Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000550325.1:c.1251C>T	12.37:g.48238712G>A		NA	B2R5Q1|Q5PSV3	37	CCDS55820.1																																																																																			VDR-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406435.1		-	ENST00000550325.1	Silent	SNP	12 : 48238712 - 48238712 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	811	136
UNC5A	90249	broad.mit.edu	37	5	176304689	176304689	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176304689C>T	ENST00000329542.4	+	10	1894	c.1620C>T	c.(1618-1620)tgC>tgT	p.C540C	UNC5A_ENST00000261961.3_Silent_p.C500C	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	540	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCAGTCGTGCGAGGGCAGCT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	23	23			NA	NA	5		NA											NA				176304689		2203	4297	6500	SO:0001819	synonymous_variant			AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763	90249	90249		Immunoglobulin superfamily / I-set domain containing	12567	protein-coding gene	gene with protein product		607869	unc5 (C.elegans homolog) a		NA		Standard	XM_030300	XM_006714927	NA	Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1620C>T	5.37:g.176304689C>T		NA	B2RXE6|Q8TF26|Q96GP4	37	CCDS34299.1																																																																																			UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372166.1		+	ENST00000329542.4	Silent	SNP	5 : 176304689 - 176304689 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	193	47
TRMT61A	115708	broad.mit.edu	37	14	103996563	103996563	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103996563G>A	ENST00000389749.4	+	2	355	c.248G>A	c.(247-249)cGc>cAc	p.R83H		NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN	tRNA methyltransferase 61 homolog A (S. cerevisiae)	83						nucleus	protein binding|tRNA (adenine-N1-)-methyltransferase activity			skin(1)	1						CTGCCGCACCGCACGCAGATC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	91	88			NA	NA	14		NA											NA				103996563		2185	4284	6469	SO:0001583	missense			AK097771	CCDS41994.1	14q32	2009-01-09	2009-01-09	2009-01-09		ENSG00000166166	115708	115708			23790	protein-coding gene	gene with protein product			chromosome 14 open reading frame 172	C14orf172	NA	16043508	Standard	NM_152307	NM_152307	NA	Approved	FLJ40452, GCD14, Gcd14p, hTRM61	uc010aws.3	Q96FX7		ENST00000389749.4:c.248G>A	14.37:g.103996563G>A	ENSP00000374399:p.Arg83His	NA	A6NN78|Q8N7Q9	37	CCDS41994.1	.	.	.	.	.	.	.	.	.	.	G	34	5.406675	0.96051	.	.	ENSG00000166166	ENST00000389749;ENST00000299201	T	0.61742	0.08	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	D	0.82747	0.5104	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87926	0.2707	10	0.52906	T	0.07	-11.4544	16.8232	0.85924	0.0:0.0:1.0:0.0	.	83	Q96FX7	TRM61_HUMAN	H	83	ENSP00000374399:R83H	ENSP00000299201:R83H	R	+	2	0	TRMT61A	103066316	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	9.448000	0.97600	2.186000	0.69663	0.462000	0.41574	CGC	TRMT61A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414988.1		+	ENST00000389749.4	Missense_Mutation	SNP	14 : 103996563 - 103996563 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	995	169
NPFFR2	10886	broad.mit.edu	37	4	72897828	72897828	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:72897828T>C	ENST00000308744.6	+	1	308	c.210T>C	c.(208-210)agT>agC	p.S70S	NPFFR2_ENST00000344413.5_Silent_p.S70S	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	70					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CTGCGAAAAGTAGCTGGAGCC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	41	40			NA	NA	4		NA											NA				72897828		2203	4300	6503	SO:0001819	synonymous_variant			AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291	10886	10886		GPCR / Class A :  Neuropeptide receptors : FF/AF, GPCR / Class A : RF amide peptide receptors	4525	protein-coding gene	gene with protein product	neuropeptide FF 2	607449	G protein-coupled receptor 74	GPR74	NA	10079187, 10851242	Standard	NM_004885	NM_001144756	NA	Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.210T>C	4.37:g.72897828T>C		NA	Q96RV1|Q9NR49	37	CCDS3551.1																																																																																			NPFFR2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252170.2		+	ENST00000308744.6	Silent	SNP	4 : 72897828 - 72897828 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	215	41
ADAM23	8745	broad.mit.edu	37	2	207424741	207424741	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207424741G>A	ENST00000264377.3	+	11	1396	c.1068G>A	c.(1066-1068)aaG>aaA	p.K356K	ADAM23_ENST00000374416.1_Silent_p.K356K|ADAM23_ENST00000374415.3_Silent_p.K356K	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	356	Peptidase M12B.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GGACTGAGAAGGATCAGATTG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(194;1127 2130 19620 24042 27855)							NA				0													127	107	114			NA	NA	2		NA											NA				207424741		2203	4300	6503	SO:0001819	synonymous_variant			AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948	8745	8745		ADAM metallopeptidase domain containing	202	protein-coding gene	gene with protein product		603710	a disintegrin and metalloproteinase domain 23		NA	9693107	Standard	NM_003812	NM_003812	NA	Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1068G>A	2.37:g.207424741G>A		NA	A2RU59	37	CCDS2369.1																																																																																			ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256431.2		+	ENST00000264377.3	Silent	SNP	2 : 207424741 - 207424741 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	267	48
NEK5	341676	broad.mit.edu	37	13	52686441	52686441	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52686441A>C	ENST00000355568.4	-	5	414	c.275T>G	c.(274-276)aTc>aGc	p.I92S		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	92	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TTGTCTATTGATCCTTTTCAT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	126	130			NA	NA	13		NA											NA				52686441		2203	4300	6503	SO:0001583	missense			BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168	341676	341676			7748	protein-coding gene	gene with protein product			NIMA (never in mitosis gene a)-related kinase 5		NA	9552363	Standard	NM_199289	XM_006719807	NA	Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.275T>G	13.37:g.52686441A>C	ENSP00000347767:p.Ile92Ser	NA	Q5TAP5	37	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.949068	0.53186	.	.	ENSG00000197168	ENST00000355568	T	0.70986	-0.53	5.29	4.11	0.48088	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.081433	0.50627	D	0.000119	D	0.85758	0.5771	M	0.91406	3.205	0.42125	D	0.991441	D	0.89917	1.0	D	0.80764	0.994	D	0.87643	0.2523	10	0.87932	D	0	.	11.2021	0.48747	0.9276:0.0:0.0724:0.0	.	92	Q6P3R8	NEK5_HUMAN	S	92	ENSP00000347767:I92S	ENSP00000347767:I92S	I	-	2	0	NEK5	51584442	1.000000	0.71417	0.899000	0.35326	0.390000	0.30446	8.200000	0.89733	0.954000	0.37851	0.383000	0.25322	ATC	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045045.3		-	ENST00000355568.4	Missense_Mutation	SNP	13 : 52686441 - 52686441 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	339	14
NEB	4703	broad.mit.edu	37	2	152468847	152468847	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152468847G>A	ENST00000604864.1	-	76	11657	c.11658C>T	c.(11656-11658)ggC>ggT	p.G3886G	NEB_ENST00000172853.10_Silent_p.G3643G|NEB_ENST00000397345.3_Silent_p.G3886G|NEB_ENST00000603639.1_Silent_p.G3886G|NEB_ENST00000409198.1_Silent_p.G3643G|NEB_ENST00000427231.2_Silent_p.G3886G			P20929	NEBU_HUMAN	nebulin	3886					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCTCTACAGAGCCAATGGGAA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	68	69			NA	NA	2		NA											NA				152468847		1906	4140	6046	SO:0001819	synonymous_variant			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091	4703	4703			7720	protein-coding gene	gene with protein product	nemaline myopathy type 2	161650		NEM2	NA	10051637, 9359044	Standard	NM_004543	NM_001164507	NA	Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000604864.1:c.11658C>T	2.37:g.152468847G>A		NA	Q15346|Q53QQ2|Q53TG8	37	CCDS54408.1																																																																																			NEB-018	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000469063.1		-	ENST00000604864.1	Silent	SNP	2 : 152468847 - 152468847 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	264	21
TRPM5	29850	broad.mit.edu	37	11	2432869	2432869	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2432869C>T	ENST00000155858.6	-	17	2611	c.2603G>A	c.(2602-2604)cGc>cAc	p.R868H	TRPM5_ENST00000533060.1_Missense_Mutation_p.R868H|TRPM5_ENST00000528453.1_Missense_Mutation_p.R868H|TRPM5_ENST00000452833.1_Missense_Mutation_p.R870H	NM_014555.3	NP_055370.1	Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	868						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCTCACCATGCGCTCTACCAC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(1;49 61 17205 18850 43201)							NA				0													60	63	62			NA	NA	11		NA											NA				2432869		2202	4299	6501	SO:0001583	missense			AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985	29850	29850		Voltage-gated ion channels / Transient receptor potential cation channels	14323	protein-coding gene	gene with protein product		604600			NA	10607831, 16382100	Standard	NM_014555	NM_014555	NA	Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.2603G>A	11.37:g.2432869C>T	ENSP00000155858:p.Arg868His	NA	A6NHS0|Q52LU2|Q9NY34	37	CCDS31340.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662312	0.67700	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58	3.88	3.88	0.44766	Ion transport (1);	0.000000	0.85682	D	0.000000	T	0.78824	0.4344	L	0.58669	1.825	0.46203	D	0.998928	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.991;0.99	T	0.80111	-0.1519	10	0.87932	D	0	-17.9194	9.5894	0.39537	0.0:0.8985:0.0:0.1015	.	868;870;868	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	H	862;868;870;868;868;868	ENSP00000434383:R862H;ENSP00000155858:R868H;ENSP00000387965:R870H;ENSP00000434121:R868H;ENSP00000436809:R868H	ENSP00000155858:R868H	R	-	2	0	TRPM5	2389445	0.974000	0.33945	0.946000	0.38457	0.592000	0.36648	3.638000	0.54332	2.120000	0.65058	0.491000	0.48974	CGC	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000027378.1		-	ENST00000155858.6	Missense_Mutation	SNP	11 : 2432869 - 2432869 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	508	85
TTI1	9675	broad.mit.edu	37	20	36640284	36640284	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36640284G>T	ENST00000373448.2	-	3	2173	c.1935C>A	c.(1933-1935)ttC>ttA	p.F645L	TTI1_ENST00000487362.1_5'UTR|TTI1_ENST00000373447.3_Missense_Mutation_p.F645L|TTI1_ENST00000449821.1_Missense_Mutation_p.F645L	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	645							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AGAGCAAACAGAAGTCTTTTC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	104	104			NA	NA	20		NA											NA				36640284		2203	4300	6503	SO:0001583	missense			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407	9675	9675			29029	protein-coding gene	gene with protein product	smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)	614425	KIAA0406, Tel2 interacting protein 1 homolog (S. pombe)	KIAA0406	NA	9455477, 20427287, 20371770	Standard	NM_014657	NM_014657	NA	Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1935C>A	20.37:g.36640284G>T	ENSP00000362547:p.Phe645Leu	NA	Q5JX67|Q96A38|Q9BR47|Q9H4K0	37	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173788	0.57692	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.63580	-0.05;-0.05;-0.05	5.23	-7.02	0.01589	Armadillo-type fold (1);	0.093144	0.85682	D	0.000000	T	0.75649	0.3878	M	0.77103	2.36	0.50313	D	0.999869	D	0.89917	1.0	D	0.87578	0.998	T	0.80390	-0.1402	10	0.66056	D	0.02	-9.5875	19.6634	0.95882	0.2446:0.0:0.7554:0.0	.	645	O43156	TTI1_HUMAN	L	645	ENSP00000362547:F645L;ENSP00000362546:F645L;ENSP00000407270:F645L	ENSP00000362546:F645L	F	-	3	2	TTI1	36073698	0.959000	0.32827	0.597000	0.28824	0.951000	0.60555	-0.060000	0.11712	-1.372000	0.02137	-0.302000	0.09304	TTC	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079138.2		-	ENST00000373448.2	Missense_Mutation	SNP	20 : 36640284 - 36640284 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	594	115
ECM2	1842	broad.mit.edu	37	9	95277420	95277420	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95277420C>A	ENST00000344604.5	-	4	696	c.547G>T	c.(547-549)Gaa>Taa	p.E183*	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Splice_Site	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	183					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TCTCTTTGTTCTGAAGAATCA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	62	61			NA	NA	9		NA											NA				95277420		2203	4300	6503	SO:0001587	stop_gained			AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823	1842	1842			3154	protein-coding gene	gene with protein product	matrix glycoprotein SC1/ECM2	603479			NA	9790758	Standard	NM_001393	NM_001393	NA	Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.547G>T	9.37:g.95277420C>A	ENSP00000344758:p.Glu183*	NA	B2R730|E2PU11|Q5T9F2|Q7Z3D0	37	CCDS6698.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.30|19.30	3.801349|3.801349	0.70567|0.70567	.|.	.|.	ENSG00000106823|ENSG00000106823	ENST00000444490|ENST00000344604	.|.	.|.	.|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.501876	.|0.22979	.|N	.|0.053335	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.46703	.|T	.|0.11	.|.	13.8795|13.8795	0.63674|0.63674	0.0:0.9266:0.0:0.0734|0.0:0.9266:0.0:0.0734	.|.	.|.	.|.	.|.	.|X	-1|183	.|.	.|ENSP00000344758:E183X	.|E	-|-	.|1	.|0	ECM2|ECM2	94317241|94317241	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.029000|4.029000	0.57253|0.57253	2.714000|2.714000	0.92807|0.92807	0.650000|0.650000	0.86243|0.86243	.|GAA	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053091.1		-	ENST00000344604.5	Nonsense_Mutation	SNP	9 : 95277420 - 95277420 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	339	80
CDH10	1008	broad.mit.edu	37	5	24487856	24487856	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:24487856G>T	ENST00000264463.4	-	12	2790	c.2283C>A	c.(2281-2283)aaC>aaA	p.N761K	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	761					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GGTAATCGTAGTTTTGGTCTC	0.438		NA								HNSCC(23;0.051)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	161	161			NA	NA	5		NA											NA				24487856		2203	4300	6503	SO:0001583	missense			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731	1008	1008		Cadherins / Major cadherins	1749	protein-coding gene	gene with protein product		604555			NA	2059658	Standard	NM_006727	NM_006727	NA	Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2283C>A	5.37:g.24487856G>T	ENSP00000264463:p.Asn761Lys	NA	Q9ULB3	37	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535813	0.45176	.	.	ENSG00000040731	ENST00000264463	T	0.76448	-1.02	5.81	2.02	0.26589	Cadherin, cytoplasmic domain (1);	0.131088	0.64402	D	0.000001	T	0.70360	0.3215	L	0.50993	1.605	0.40598	D	0.981552	B	0.15141	0.012	B	0.18263	0.021	T	0.66830	-0.5824	10	0.87932	D	0	.	10.2185	0.43184	0.2733:0.0:0.7267:0.0	.	761	Q9Y6N8	CAD10_HUMAN	K	761	ENSP00000264463:N761K	ENSP00000264463:N761K	N	-	3	2	CDH10	24523613	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.166000	0.31834	0.375000	0.24679	0.655000	0.94253	AAC	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207345.2		-	ENST00000264463.4	Missense_Mutation	SNP	5 : 24487856 - 24487856 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	919	167
MGAT1	4245	broad.mit.edu	37	5	180218780	180218780	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180218780C>T	ENST00000446023.2	-	3	1942	c.1192G>A	c.(1192-1194)Gcc>Acc	p.A398T	MGAT1_ENST00000307826.4_Missense_Mutation_p.A398T|MGAT1_ENST00000333055.3_Missense_Mutation_p.A398T|MGAT1_ENST00000427865.2_Missense_Mutation_p.A398T|MGAT1_ENST00000393340.3_Missense_Mutation_p.A398T	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	398					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAGCCTTGGCGAAAGCCTTG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	69	71			NA	NA	5		NA											NA				180218780		2203	4300	6503	SO:0001583	missense			M61829	CCDS4458.1	5q35.3	2013-02-25			ENSG00000131446	ENSG00000131446	4245	4245	2.4.1.101	Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases	7044	protein-coding gene	gene with protein product		160995		MGAT, GLYT1	NA	1827260	Standard	NM_001114618	NM_002406	NA	Approved	GNT-1, GLCNAC-TI	uc003mmg.4	P26572	OTTHUMG00000130937	ENST00000446023.2:c.1192G>A	5.37:g.180218780C>T	ENSP00000404718:p.Ala398Thr	NA	A8K404|D3DWR1|Q6IBE3	37	CCDS4458.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355865	0.82243	.	.	ENSG00000131446	ENST00000333055;ENST00000307826;ENST00000446023;ENST00000393340;ENST00000452920;ENST00000427865	D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.88134	0.6355	M	0.62723	1.935	0.80722	D	1	D	0.63880	0.993	P	0.51055	0.657	D	0.85120	0.0968	10	0.18276	T	0.48	-21.9415	15.8674	0.79074	0.0:1.0:0.0:0.0	.	398	P26572	MGAT1_HUMAN	T	398;398;398;398;255;398	ENSP00000332073:A398T;ENSP00000311888:A398T;ENSP00000404718:A398T;ENSP00000377010:A398T;ENSP00000402838:A398T	ENSP00000311888:A398T	A	-	1	0	MGAT1	180151386	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	6.840000	0.75369	2.692000	0.91855	0.655000	0.94253	GCC	MGAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368189.1		-	ENST00000446023.2	Missense_Mutation	SNP	5 : 180218780 - 180218780 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	94
PFAS	5198	broad.mit.edu	37	17	8166542	8166542	+	Missense_Mutation	SNP	A	A	G	rs35976967		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8166542A>G	ENST00000314666.6	+	13	1659	c.1526A>G	c.(1525-1527)aAc>aGc	p.N509S	PFAS_ENST00000585319.1_3'UTR|PFAS_ENST00000545834.1_Missense_Mutation_p.N85S	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	509					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCCAAGGGAAACCCCATCTGC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	123	122			NA	NA	17		NA											NA				8166542		2203	4300	6503	SO:0001583	missense			AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	5198	5198	6.3.5.3		8863	protein-coding gene	gene with protein product	FGAR amidotransferase	602133			NA	8110788	Standard		NM_012393	NA	Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.1526A>G	17.37:g.8166542A>G	ENSP00000313490:p.Asn509Ser	NA	A6H8V8	37	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	A	14.67	2.603648	0.46423	.	.	ENSG00000178921	ENST00000545834;ENST00000314666	T;T	0.32023	1.47;1.47	5.91	5.91	0.95273	AIR synthase-related protein, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.59335	0.2186	M	0.83692	2.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.65105	-0.6249	10	0.87932	D	0	-24.994	14.3033	0.66368	1.0:0.0:0.0:0.0	.	85;509	F5GWT9;O15067	.;PUR4_HUMAN	S	85;509	ENSP00000441706:N85S;ENSP00000313490:N509S	ENSP00000313490:N509S	N	+	2	0	PFAS	8107267	1.000000	0.71417	0.996000	0.52242	0.887000	0.51463	8.163000	0.89659	2.266000	0.75297	0.533000	0.62120	AAC	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226994.2		+	ENST00000314666.6	Missense_Mutation	SNP	17 : 8166542 - 8166542 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	875	83
FOXB2	442425	broad.mit.edu	37	9	79634658	79634658	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79634658G>A	ENST00000376708.1	+	1	88	c.88G>A	c.(88-90)Gcc>Acc	p.A30T		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	30					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue 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			breast(1)|lung(8)|ovary(1)	10						CCAGCACTCGGCCGAGAAGAT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	53	55			NA	NA	9		NA											NA				79634658		2203	4300	6503	SO:0001583	missense				CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612	442425	442425		Forkhead boxes	23315	protein-coding gene	gene with protein product					NA		Standard	NM_001013735	NM_001013735	NA	Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.88G>A	9.37:g.79634658G>A	ENSP00000365898:p.Ala30Thr	NA		37	CCDS35045.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629544	0.46944	.	.	ENSG00000204612	ENST00000376708	D	0.95447	-3.71	4.41	4.41	0.53225	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.367704	0.27302	N	0.019985	D	0.91838	0.7417	N	0.11818	0.18	0.37583	D	0.919881	P	0.52170	0.951	P	0.49999	0.628	D	0.93456	0.6806	10	0.52906	T	0.07	.	12.8307	0.57744	0.0:0.1646:0.8354:0.0	.	30	Q5VYV0	FOXB2_HUMAN	T	30	ENSP00000365898:A30T	ENSP00000365898:A30T	A	+	1	0	FOXB2	78824478	0.000000	0.05858	0.990000	0.47175	0.780000	0.44128	-0.169000	0.09911	2.177000	0.69029	0.561000	0.74099	GCC	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052745.1		+	ENST00000376708.1	Missense_Mutation	SNP	9 : 79634658 - 79634658 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	185	32
TRPM8	79054	broad.mit.edu	37	2	234891813	234891813	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234891813G>A	ENST00000324695.4	+	20	2746	c.2706G>A	c.(2704-2706)tcG>tcA	p.S902S	TRPM8_ENST00000433712.2_Silent_p.S480S	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	902						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TATTCCGTTCGGTCATCTACG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	126	131			NA	NA	2		NA											NA				234891813		2203	4300	6503	SO:0001819	synonymous_variant			AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481	79054	79054		Voltage-gated ion channels / Transient receptor potential cation channels	17961	protein-coding gene	gene with protein product		606678			NA	16382100	Standard	NM_024080	NM_024080	NA	Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2706G>A	2.37:g.234891813G>A		NA	Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	37	CCDS33407.1																																																																																			TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131005.4		+	ENST00000324695.4	Silent	SNP	2 : 234891813 - 234891813 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	707	29
PIK3R3	8503	broad.mit.edu	37	1	46509480	46509480	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46509480C>T	ENST00000262741.5	-	10	1940	c.1251G>A	c.(1249-1251)gaG>gaA	p.E417E	PIK3R3_ENST00000420542.1_Silent_p.E417E|PIK3R3_ENST00000340332.6_Silent_p.E322E|PIK3R3_ENST00000354242.4_Silent_p.E358E|PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000423209.1_Silent_p.E358E|PIK3R3_ENST00000540385.1_Silent_p.E463E|PIK3R3_ENST00000372006.1_Silent_p.E417E	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	417	SH2 2.				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					GGTTGTAGGGCTCTGCAAAGC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	111	118			NA	NA	1		NA											NA				46509480		2203	4300	6503	SO:0001819	synonymous_variant			BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461	8503	8503		SH2 domain containing	8981	protein-coding gene	gene with protein product		606076			NA	9524259	Standard	NM_003629	NM_003629	NA	Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.1251G>A	1.37:g.46509480C>T		NA	B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	37	CCDS529.1																																																																																			PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022171.1		-	ENST00000262741.5	Silent	SNP	1 : 46509480 - 46509480 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	181	35
TRIM56	81844	broad.mit.edu	37	7	100730929	100730929	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100730929C>T	ENST00000306085.6	+	3	633	c.336C>T	c.(334-336)acC>acT	p.T112T		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	112					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GCACCAGCACCGGGGGGCCGG	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(89;1092 1379 22756 38989 39611)							NA				0													17	21	20			NA	NA	7		NA											NA				100730929		2017	4139	6156	SO:0001819	synonymous_variant			BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871	81844	81844		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	19028	protein-coding gene	gene with protein product			tripartite motif-containing 56		NA		Standard	NM_030961	NM_030961	NA	Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.336C>T	7.37:g.100730929C>T		NA	Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	37	CCDS43625.1																																																																																			TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347185.1		+	ENST00000306085.6	Silent	SNP	7 : 100730929 - 100730929 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	351	80
KRTAP15-1	254950	broad.mit.edu	37	21	31812852	31812852	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31812852A>C	ENST00000334067.3	+	1	256	c.207A>C	c.(205-207)agA>agC	p.R69S		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	69						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						CTTTGGCCAGATCCTATCAGA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	117	119			NA	NA	21		NA											NA				31812852		2203	4300	6503	SO:0001583	missense			AP001708	CCDS13593.1	21q22.1	2008-05-21			ENSG00000186970	ENSG00000186970	254950	254950		Keratin associated proteins	18927	protein-coding gene	gene with protein product					NA	12359730	Standard		NM_181623	NA	Approved	KAP15.1	uc002yod.3	Q3LI76	OTTHUMG00000057784	ENST00000334067.3:c.207A>C	21.37:g.31812852A>C	ENSP00000334866:p.Arg69Ser	NA	Q2M3F4	37	CCDS13593.1	.	.	.	.	.	.	.	.	.	.	A	2.037	-0.420979	0.04734	.	.	ENSG00000186970	ENST00000334067	T	0.02787	4.16	4.48	0.728	0.18260	.	0.648451	0.14151	N	0.337992	T	0.01421	0.0046	N	0.10916	0.065	0.09310	N	1	B	0.24920	0.114	B	0.31686	0.134	T	0.47573	-0.9107	10	0.02654	T	1	-0.1593	4.0417	0.09755	0.6046:0.2002:0.1952:0.0	.	69	Q3LI76	KR151_HUMAN	S	69	ENSP00000334866:R69S	ENSP00000334866:R69S	R	+	3	2	KRTAP15-1	30734723	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.414000	0.21164	0.117000	0.18138	-0.331000	0.08364	AGA	KRTAP15-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128236.1		+	ENST00000334067.3	Missense_Mutation	SNP	21 : 31812852 - 31812852 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	655	69
EP400	57634	broad.mit.edu	37	12	132502101	132502101	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132502101C>T	ENST00000333577.4	+	21	4162	c.4053C>T	c.(4051-4053)agC>agT	p.S1351S	EP400_ENST00000389562.2_Silent_p.S1314S|EP400_ENST00000332482.4_Silent_p.S1278S|EP400_ENST00000389561.2_Silent_p.S1315S|EP400_ENST00000330386.6_Silent_p.S1315S			Q96L91	EP400_HUMAN	E1A binding protein p400	1351	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCTTGAAGAGCGGGCACTTTG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	83	85			NA	NA	12		NA											NA				132502101		2203	4300	6503	SO:0001819	synonymous_variant			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495	57634	57634			11958	protein-coding gene	gene with protein product		606265	trinucleotide repeat containing 12	TNRC12	NA	9225980, 11509179	Standard	NM_015409	NM_015409	NA	Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.4053C>T	12.37:g.132502101C>T		NA	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	37																																																																																				EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding			+	ENST00000333577.4	Silent	SNP	12 : 132502101 - 132502101 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	578	93
SH3TC2	79628	broad.mit.edu	37	5	148406207	148406207	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148406207A>C	ENST00000512049.1	-	12	3026	c.2960T>G	c.(2959-2961)cTc>cGc	p.L987R	SH3TC2_ENST00000394358.2_Missense_Mutation_p.S915A|SH3TC2_ENST00000538184.1_Missense_Mutation_p.L541R|SH3TC2_ENST00000515425.1_Missense_Mutation_p.L994R			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	994							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGTCCCTGAGTTGCTGAGC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	116	115			NA	NA	5		NA											NA				148406207		2203	4300	6503	SO:0001583	missense			AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247	79628	79628		Tetratricopeptide (TTC) repeat domain containing	29427	protein-coding gene	gene with protein product		608206			NA	14574644	Standard	NM_024577	NM_024577	NA	Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000512049.1:c.2960T>G	5.37:g.148406207A>C	ENSP00000421860:p.Leu987Arg	NA	B3KWE5|Q14CF5|Q9H8I5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.50|16.50	3.141326|3.141326	0.57044|0.57044	.|.	.|.	ENSG00000169247|ENSG00000169247	ENST00000538184;ENST00000515425;ENST00000512049|ENST00000394358	T;T;T|T	0.80214|0.72394	-1.07;-1.35;-1.14|-0.65	5.37|5.37	5.37|5.37	0.77165|0.77165	Tetratricopeptide-like helical (1);|.	0.076781|.	0.53938|.	D|.	0.000058|.	T|T	0.66015|0.66015	0.2747|0.2747	L|L	0.45581|0.45581	1.43|1.43	0.24075|0.24075	N|N	0.995961|0.995961	D;D;D|P	0.89917|0.43633	1.0;1.0;1.0|0.813	D;D;D|B	0.80764|0.38264	0.994;0.994;0.994|0.269	T|T	0.64659|0.64659	-0.6355|-0.6355	10|9	0.87932|0.87932	D|D	0|0	-9.2116|-9.2116	15.5409|15.5409	0.76048|0.76048	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	987;994;994|915	Q14CC0;E9PDF1;Q8TF17|C9JLC3	.;.;S3TC2_HUMAN|.	R|A	541;994;987|915	ENSP00000441427:L541R;ENSP00000423660:L994R;ENSP00000421860:L987R|ENSP00000377886:S915A	ENSP00000425627:L994R|ENSP00000377886:S915A	L|S	-|-	2|1	0|0	SH3TC2|SH3TC2	148386400|148386400	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.900000|0.900000	0.52787|0.52787	7.054000|7.054000	0.76649|0.76649	2.254000|2.254000	0.74563|0.74563	0.482000|0.482000	0.46254|0.46254	CTC|TCA	SH3TC2-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000373360.1		-	ENST00000512049.1	Missense_Mutation	SNP	5 : 148406207 - 148406207 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	671	167
ABCB4	5244	broad.mit.edu	37	7	87047935	87047935	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87047935T>C	ENST00000265723.4	-	20	2507	c.2396A>G	c.(2395-2397)gAc>gGc	p.D799G	ABCB4_ENST00000358400.3_Splice_Site_p.D799G|ABCB4_ENST00000453593.1_Splice_Site_p.D799G|ABCB4_ENST00000545634.1_Splice_Site_p.D799G|ABCB4_ENST00000359206.3_Splice_Site_p.D799G	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	799	ABC transmembrane type-1 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CCAGCTCATGTCCTATGGCAT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	91	98			NA	NA	7		NA											NA				87047935		2203	4300	6503	SO:0001630	splice_region_variant			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471	5244	5244		ATP binding cassette transporters / subfamily B	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3	NA	2892668, 11313316	Standard	NM_000443	NM_018850	NA	Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.2395-1A>G	7.37:g.87047935T>C		NA	A0A2V7|A4D1D3|A4D1D4|D6W5P3|D6W5P4|Q14813	37	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.415147	0.83449	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43	5.58	5.58	0.84498	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.096631	0.64402	D	0.000001	D	0.92427	0.7596	H	0.94306	3.52	0.80722	D	1	D;D;D	0.76494	0.992;0.999;0.999	D;D;D	0.75484	0.951;0.975;0.986	D	0.94445	0.7662	10	0.87932	D	0	-19.2171	15.7496	0.77972	0.0:0.0:0.0:1.0	.	799;799;799	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	G	799	ENSP00000352135:D799G;ENSP00000351172:D799G;ENSP00000265723:D799G;ENSP00000392983:D799G;ENSP00000437465:D799G	ENSP00000265723:D799G	D	-	2	0	ABCB4	86885871	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	6.832000	0.75329	2.117000	0.64856	0.528000	0.53228	GAC	ABCB4-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336083.1	Missense_Mutation	-	ENST00000265723.4	Splice_Site	SNP	7 : 87047935 - 87047935 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	194	33
TRPM3	80036	broad.mit.edu	37	9	73233803	73233803	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:73233803G>A	ENST00000377111.2	-	16	2545	c.2302C>T	c.(2302-2304)Cgc>Tgc	p.R768C	TRPM3_ENST00000357533.2_Missense_Mutation_p.R772C|TRPM3_ENST00000358082.3_Missense_Mutation_p.R630C|TRPM3_ENST00000377106.1_Missense_Mutation_p.R640C|TRPM3_ENST00000377110.3_Missense_Mutation_p.R768C|TRPM3_ENST00000396280.5_Missense_Mutation_p.R617C|TRPM3_ENST00000423814.3_Missense_Mutation_p.R795C|TRPM3_ENST00000396292.4_Missense_Mutation_p.R640C|TRPM3_ENST00000408909.2_Missense_Mutation_p.R627C|TRPM3_ENST00000360823.2_Missense_Mutation_p.R630C|TRPM3_ENST00000396285.1_Missense_Mutation_p.R615C|TRPM3_ENST00000377105.1_Missense_Mutation_p.R627C	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	793						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GAGTTCTTGCGCATGCGGAGC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	48	49			NA	NA	9		NA											NA				73233803		2203	4299	6502	SO:0001583	missense			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067	80036	80036		Voltage-gated ion channels / Transient receptor potential cation channels	17992	protein-coding gene	gene with protein product	melastatin 2	608961			NA	16382100	Standard	NM_206945	NM_206946	NA	Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2302C>T	9.37:g.73233803G>A	ENSP00000366315:p.Arg768Cys	NA	A2A3F6|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.9|21.9	4.222709|4.222709	0.79464|0.79464	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	.|T;T;T;T;T;T;T;T;T;T;T	.|0.75704	.|-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96	5.65|5.65	3.67|3.67	0.42095|0.42095	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84433|0.84433	0.5471|0.5471	M|M	0.69358|0.69358	2.11|2.11	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;0.98;1.0;1.0;1.0	.|D;D;D;D;P;D;D;D	.|0.79784	.|0.988;0.969;0.983;0.978;0.53;0.978;0.993;0.964	D|D	0.87201|0.87201	0.2241|0.2241	5|10	.|0.87932	.|D	.|0	-18.3508|-18.3508	16.3867|16.3867	0.83507|0.83507	0.0:0.0:0.7511:0.2489|0.0:0.0:0.7511:0.2489	.|.	.|768;768;758;772;630;627;740;615	.|Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.|.;.;.;.;.;.;.;.	V|C	616|768;768;640;630;627;772;627;615;640;630;795	.|ENSP00000366315:R768C;ENSP00000366314:R768C;ENSP00000366310:R640C;ENSP00000354066:R630C;ENSP00000366309:R627C;ENSP00000350140:R772C;ENSP00000386127:R627C;ENSP00000379581:R615C;ENSP00000379587:R640C;ENSP00000350791:R630C;ENSP00000389542:R795C	.|ENSP00000350140:R772C	A|R	-|-	2|1	0|0	TRPM3|TRPM3	72423623|72423623	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.986000|2.986000	0.49370|0.49370	1.600000|1.600000	0.50102|0.50102	0.655000|0.655000	0.94253|0.94253	GCG|CGC	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000214157.5		-	ENST00000377111.2	Missense_Mutation	SNP	9 : 73233803 - 73233803 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	71
ZFP3	124961	broad.mit.edu	37	17	4996027	4996027	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4996027G>A	ENST00000318833.3	+	2	1564	c.1228G>A	c.(1228-1230)Gtc>Atc	p.V410I		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						TCACCTTATTGTCCACCAGAG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	67	68			NA	NA	17		NA											NA				4996027		2203	4300	6503	SO:0001583	missense			BX647638	CCDS11067.1	17p13.2	2013-01-08	2012-11-27		ENSG00000180787	ENSG00000180787	124961	124961		Zinc fingers, C2H2-type	12861	protein-coding gene	gene with protein product		194480	zinc finger protein homologous to Zfp-3 in mouse, zinc finger protein 3 homolog (mouse)		NA		Standard	NM_153018	NM_153018	NA	Approved	FLJ30726, ZNF752	uc002gaq.3	Q96NJ6		ENST00000318833.3:c.1228G>A	17.37:g.4996027G>A	ENSP00000320347:p.Val410Ile	NA	A5PLL4	37	CCDS11067.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.293593	0.23564	.	.	ENSG00000180787	ENST00000318833	T	0.17854	2.25	3.96	3.0	0.34707	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33217	N	0.005159	T	0.15825	0.0381	N	0.05608	-0.01	0.09310	N	1	P	0.49862	0.929	D	0.63703	0.917	T	0.05599	-1.0875	10	0.33940	T	0.23	-9.5861	6.2776	0.20989	0.2192:0.0:0.7808:0.0	.	410	Q96NJ6	ZFP3_HUMAN	I	410	ENSP00000320347:V410I	ENSP00000320347:V410I	V	+	1	0	ZFP3	4936751	0.000000	0.05858	0.731000	0.30826	0.979000	0.70002	0.231000	0.17872	1.265000	0.44215	0.655000	0.94253	GTC	ZFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438979.1		+	ENST00000318833.3	Missense_Mutation	SNP	17 : 4996027 - 4996027 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	23
CD97	976	broad.mit.edu	37	19	14517876	14517876	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14517876G>A	ENST00000242786.5	+	18	2291	c.2211G>A	c.(2209-2211)gcG>gcA	p.A737A	CD97_ENST00000358600.3_Silent_p.A644A|CD97_ENST00000357355.3_Silent_p.A688A|CTC-548K16.5_ENST00000590626.1_RNA	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	737					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTCGCAGGGCGCTGACCATCA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	69	77			NA	NA	19		NA											NA				14517876		2203	4300	6503	SO:0001819	synonymous_variant				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146	976	976		CD molecules, -, GPCR / Class B : Orphans	1711	protein-coding gene	gene with protein product	leukocyte antigen CD97, seven-span transmembrane protein, seven-transmembrane, heterodimeric receptor associated with inflammation, seven transmembrane helix receptor	601211	CD97 antigen		NA	7636245, 8786105	Standard	NM_078481	NM_078481	NA	Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.2211G>A	19.37:g.14517876G>A		NA	A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	37	CCDS32929.1																																																																																			CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459821.2		+	ENST00000242786.5	Silent	SNP	19 : 14517876 - 14517876 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	463	36
KDM5A	5927	broad.mit.edu	37	12	432350	432350	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:432350G>A	ENST00000399788.2	-	16	2535	c.2173C>T	c.(2173-2175)Ctc>Ttc	p.L725F	KDM5A_ENST00000382815.4_Missense_Mutation_p.L725F	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	725					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AGAGAAGGGAGGTCTTCTAAT	0.328		NA	T	NUP98	AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		12	12p11	5927	lysine (K)-specific demethylase 5A, JARID1A		L	0													90	79	82			NA	NA	12		NA											NA				432350		1849	4088	5937	SO:0001583	missense				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614	5927	5927		Chromatin-modifying enzymes / K-demethylases, Zinc fingers, PHD-type	9886	protein-coding gene	gene with protein product		180202	retinoblastoma-binding protein 2, Jumonji, AT rich interactive domain 1A (RBBP2-like), jumonji, AT rich interactive domain 1A	RBBP2, JARID1A	NA	1857421	Standard	NM_005056	NM_001042603	NA	Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.2173C>T	12.37:g.432350G>A	ENSP00000382688:p.Leu725Phe	NA	A8MV76|Q4LE72|Q86XZ1	37	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.321988	0.60634	.	.	ENSG00000073614	ENST00000261253;ENST00000399787;ENST00000399788;ENST00000382815;ENST00000544760	D;D;D	0.95724	-3.79;-3.79;-3.79	5.39	5.39	0.77823	Zinc finger, C5HC2-type (1);	0.055609	0.64402	D	0.000001	D	0.96169	0.8751	M	0.83483	2.645	0.50467	D	0.999873	B;B;B	0.28178	0.202;0.118;0.017	B;B;B	0.39771	0.307;0.309;0.046	D	0.95095	0.8225	10	0.56958	D	0.05	-10.091	13.7971	0.63177	0.0737:0.0:0.9263:0.0	.	725;725;725	F5H1F7;P29375;P29375-2	.;KDM5A_HUMAN;.	F	344;684;725;725;344	ENSP00000382688:L725F;ENSP00000372265:L725F;ENSP00000440622:L344F	ENSP00000261253:L344F	L	-	1	0	KDM5A	302611	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.011000	0.70760	2.676000	0.91093	0.563000	0.77884	CTC	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397812.1		-	ENST00000399788.2	Missense_Mutation	SNP	12 : 432350 - 432350 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	220	38
ZNF583	147949	broad.mit.edu	37	19	56935280	56935280	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56935280G>A	ENST00000333201.9	+	5	1463	c.1253G>A	c.(1252-1254)aGc>aAc	p.S418N	ZNF583_ENST00000585612.1_Intron|ZNF583_ENST00000291598.7_Missense_Mutation_p.S418N	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		AAAGCCTTCAGCCAAATTGCA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	63	62			NA	NA	19		NA											NA				56935280		2203	4300	6503	SO:0001583	missense			AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440	147949	147949		Zinc fingers, C2H2-type, -	26427	protein-coding gene	gene with protein product					NA		Standard	NM_152478	NM_152478	NA	Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1253G>A	19.37:g.56935280G>A	ENSP00000388502:p.Ser418Asn	NA	O14850|Q2NKK3	37	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.956489	0.53293	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.07567	3.18;3.18	4.57	-0.998	0.10212	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000085	T	0.13670	0.0331	L	0.48218	1.51	0.09310	N	0.999994	D	0.76494	0.999	D	0.83275	0.996	T	0.12400	-1.0549	9	.	.	.	.	1.7987	0.03067	0.3461:0.1244:0.4027:0.1268	.	418	Q96ND8	ZN583_HUMAN	N	418	ENSP00000291598:S418N;ENSP00000388502:S418N	.	S	+	2	0	ZNF583	61627092	0.000000	0.05858	0.130000	0.21974	0.997000	0.91878	-4.173000	0.00280	-0.120000	0.11809	0.563000	0.77884	AGC	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401453.1		+	ENST00000333201.9	Missense_Mutation	SNP	19 : 56935280 - 56935280 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	314	43
MSANTD3	91283	broad.mit.edu	37	9	103212948	103212948	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:103212948A>C	ENST00000395067.2	+	3	799	c.528A>C	c.(526-528)agA>agC	p.R176S	MSANTD3_ENST00000489377.1_3'UTR|TMEFF1_ENST00000334943.6_Intron|MSANTD3_ENST00000374885.1_3'UTR|MSANTD3-TMEFF1_ENST00000502978.1_Intron	NM_001198805.1|NM_001198806.1|NM_080655.2	NP_001185734.1|NP_001185735.1|NP_542386.1			Myb/SANT-like DNA-binding domain containing 3	NA										endometrium(2)|lung(2)	4						CAGCTGTCAGAATAACAGCCA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	55	56			NA	NA	9		NA											NA				103212948		2203	4300	6503	SO:0001583	missense			BC008993	CCDS6749.1, CCDS56579.1	9q31.1	2012-03-13	2012-03-13	2012-03-13	ENSG00000066697	ENSG00000066697	91283	91283			23370	protein-coding gene	gene with protein product			chromosome 9 open reading frame 30	C9orf30	NA		Standard	NM_080655	NM_080655	NA	Approved	MGC17337		Q96H12	OTTHUMG00000020365	ENST00000395067.2:c.528A>C	9.37:g.103212948A>C	ENSP00000378506:p.Arg176Ser	NA		37	CCDS6749.1	.	.	.	.	.	.	.	.	.	.	A	13.45	2.239398	0.39598	.	.	ENSG00000066697	ENST00000395067;ENST00000374886	.	.	.	5.55	1.78	0.24846	.	.	.	.	.	T	0.25938	0.0632	N	0.22421	0.69	0.80722	D	1	P	0.41232	0.743	B	0.26094	0.066	T	0.06625	-1.0816	8	0.87932	D	0	-6.9505	9.221	0.37377	0.7846:0.0:0.2154:0.0	.	176	Q96H12	CI030_HUMAN	S	176	.	ENSP00000364021:R176S	R	+	3	2	C9orf30	102252769	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.139000	0.42149	0.374000	0.24650	0.383000	0.25322	AGA	MSANTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053410.1		+	ENST00000395067.2	Missense_Mutation	SNP	9 : 103212948 - 103212948 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	233	41
TNXB	7148	broad.mit.edu	37	6	32029210	32029210	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32029210G>A	ENST00000375244.3	-	21	7657	c.7456C>T	c.(7456-7458)Cgg>Tgg	p.R2486W	TNXB_ENST00000375247.2_Missense_Mutation_p.R2486W			P22105	TENX_HUMAN	tenascin XB	2546	Fibronectin type-III 17.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCACGCGCCGCCCCTCGTGG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	120	115			NA	NA	6		NA											NA				32029210		1315	2567	3882	SO:0001583	missense			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477	7148	7148		Fibrinogen C domain containing, Fibronectin type III domain containing	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2	NA	8530023	Standard	NM_019105	NM_019105	NA	Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7456C>T	6.37:g.32029210G>A	ENSP00000364393:p.Arg2486Trp	NA	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	37		.	.	.	.	.	.	.	.	.	.	G	12.14	1.849156	0.32699	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.04603	3.59;3.59	4.28	2.41	0.29592	.	0.747652	0.11920	N	0.516766	T	0.04182	0.0116	L	0.54323	1.7	0.09310	N	1	D	0.76494	0.999	P	0.57846	0.828	T	0.35375	-0.9791	10	0.66056	D	0.02	.	2.9097	0.05733	0.1003:0.1816:0.5306:0.1875	.	2486	P22105-3	.	W	2486	ENSP00000364393:R2486W;ENSP00000364396:R2486W	ENSP00000364393:R2486W	R	-	1	2	TNXB	32137188	0.002000	0.14202	0.001000	0.08648	0.114000	0.19823	1.141000	0.31528	0.383000	0.24910	0.591000	0.81541	CGG	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000268927.2		-	ENST00000375244.3	Missense_Mutation	SNP	6 : 32029210 - 32029210 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1081	45
REST	5978	broad.mit.edu	37	4	57796834	57796834	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57796834G>A	ENST00000309042.7	+	4	2124	c.1810G>A	c.(1810-1812)Gga>Aga	p.G604R		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	604	Pro-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					TGTTGAGAAGGGATCTGCTCA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	30	30			NA	NA	4		NA											NA				57796834		2190	4285	6475	SO:0001583	missense			U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093	5978	5978			9966	protein-coding gene	gene with protein product		600571			NA	7871435, 7697725	Standard	NM_005612	NM_005612	NA	Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.1810G>A	4.37:g.57796834G>A	ENSP00000311816:p.Gly604Arg	NA	A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	37	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	G	7.921	0.738503	0.15574	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.06849	3.25	4.23	4.23	0.50019	.	1.495820	0.04005	N	0.297113	T	0.09202	0.0227	N	0.19112	0.55	0.09310	N	0.999993	B;B	0.12013	0.004;0.005	B;B	0.18263	0.021;0.005	T	0.25984	-1.0116	10	0.37606	T	0.19	1.0E-4	14.3745	0.66865	0.0:0.0:1.0:0.0	.	581;604	F8WAN5;Q13127	.;REST_HUMAN	R	604;581	ENSP00000311816:G604R	ENSP00000311816:G604R	G	+	1	0	REST	57491591	0.024000	0.19004	0.011000	0.14972	0.003000	0.03518	1.939000	0.40213	2.273000	0.75805	0.491000	0.48974	GGA	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250691.2		+	ENST00000309042.7	Missense_Mutation	SNP	4 : 57796834 - 57796834 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	239	44
SOGA2	0	broad.mit.edu	37	18	8819017	8819017	+	Silent	SNP	C	C	T	rs148649890		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8819017C>T	ENST00000517570.1	+	11	2975	c.2793C>T	c.(2791-2793)gaC>gaT	p.D931D	SOGA2_ENST00000306329.11_Silent_p.D1291D|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000400050.3_Silent_p.D931D|SOGA2_ENST00000306285.7_Intron|SOGA2_ENST00000359865.3_Silent_p.D972D			Q9Y4B5	CC165_HUMAN		1282											NA						ATCAAAAAGACGGCAACGTTC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	75	73			NA	NA	18		NA											NA				8819017		2203	4300	6503	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000517570.1:c.2793C>T	18.37:g.8819017C>T		NA	E9PAY7|Q6ZMQ9|Q8IWA9	37																																																																																				SOGA2-003	KNOWN	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000379400.2		+	ENST00000517570.1	Silent	SNP	18 : 8819017 - 8819017 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	575	153
PLEKHH2	130271	broad.mit.edu	37	2	43922354	43922354	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43922354A>G	ENST00000282406.4	+	6	603	c.493A>G	c.(493-495)Aaa>Gaa	p.K165E		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	165						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AATGCAGTCAAAACTACAAGG	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	48	48			NA	NA	2		NA											NA				43922354		2198	4295	6493	SO:0001583	missense			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527	130271	130271		Pleckstrin homology (PH) domain containing	30506	protein-coding gene	gene with protein product		612723			NA		Standard	NM_172069	NM_172069	NA	Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.493A>G	2.37:g.43922354A>G	ENSP00000282406:p.Lys165Glu	NA	Q5JPJ6|Q6P4Q1|Q8N3Q3	37	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	A	19.63	3.863972	0.71949	.	.	ENSG00000152527	ENST00000282406	T	0.54279	0.58	5.58	5.58	0.84498	.	0.109197	0.64402	D	0.000007	T	0.57242	0.2040	L	0.43152	1.355	0.40111	D	0.976488	P;P	0.47034	0.524;0.889	B;P	0.51170	0.095;0.661	T	0.59418	-0.7458	10	0.48119	T	0.1	-20.5962	15.7573	0.78043	1.0:0.0:0.0:0.0	.	165;165	Q8IVE3;Q8IVE3-3	PKHH2_HUMAN;.	E	165	ENSP00000282406:K165E	ENSP00000282406:K165E	K	+	1	0	PLEKHH2	43775858	1.000000	0.71417	0.982000	0.44146	0.975000	0.68041	5.168000	0.64978	2.120000	0.65058	0.477000	0.44152	AAA	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250537.1		+	ENST00000282406.4	Missense_Mutation	SNP	2 : 43922354 - 43922354 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	76	19
FBXO21	23014	broad.mit.edu	37	12	117595739	117595739	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117595739G>A	ENST00000427718.2	-	10	1530	c.1456C>T	c.(1456-1458)Cgc>Tgc	p.R486C	FBXO21_ENST00000330622.5_Missense_Mutation_p.R493C	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	493					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		TCATCGGAGCGCAGCTTCACC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(168;452 2038 13535 17701 43680)							NA				0													211	175	187			NA	NA	12		NA											NA				117595739		2203	4300	6503	SO:0001583	missense			AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15				23014	23014		F-boxes /  other	13592	protein-coding gene	gene with protein product		609095	F-box only protein 21		NA	10048485, 10531035	Standard	NM_033624	NM_033624	NA	Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000427718.2:c.1456C>T	12.37:g.117595739G>A	ENSP00000414468:p.Arg486Cys	NA	B3KMF0|Q5BJG0|Q9H087	37	CCDS44989.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.1|29.1	4.977439|4.977439	0.92982|0.92982	.|.	.|.	ENSG00000135108|ENSG00000135108	ENST00000550180|ENST00000427718;ENST00000257563;ENST00000535590;ENST00000330622;ENST00000548840	.|T;T	.|0.58652	.|0.45;0.32	5.02|5.02	5.02|5.02	0.67125|0.67125	.|F-box domain, Skp2-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65260|0.65260	0.2674|0.2674	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0	.|P;P;P;D	.|0.66196	.|0.908;0.886;0.719;0.942	T|T	0.69705|0.69705	-0.5073|-0.5073	5|10	.|0.87932	.|D	.|0	-13.0067|-13.0067	18.5372|18.5372	0.91014|0.91014	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|342;236;493;486	.|Q8IUQ5;B3KQC8;O94952;O94952-1	.|.;.;FBX21_HUMAN;.	V|C	369|486;402;342;493;145	.|ENSP00000414468:R486C;ENSP00000328187:R493C	.|ENSP00000257563:R402C	A|R	-|-	2|1	0|0	FBXO21|FBXO21	116080122|116080122	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.993000|0.993000	0.82548|0.82548	7.406000|7.406000	0.80017|0.80017	2.607000|2.607000	0.88179|0.88179	0.655000|0.655000	0.94253|0.94253	GCG|CGC	FBXO21-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404407.1		-	ENST00000427718.2	Missense_Mutation	SNP	12 : 117595739 - 117595739 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1244	271
AKR1B1	231	broad.mit.edu	37	7	134133231	134133231	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134133231T>C	ENST00000285930.4	-	6	646	c.567A>G	c.(565-567)ccA>ccG	p.P189P		NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	189					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	GAGTGAGATATGGGTGGCACT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	96	98			NA	NA	7		NA											NA				134133231		2203	4300	6503	SO:0001819	synonymous_variant			J04795	CCDS5831.1	7q35	2010-04-08			ENSG00000085662	ENSG00000085662	231	231	1.1.1.21	Aldo-keto reductases	381	protein-coding gene	gene with protein product		103880		ALDR1	NA	1901827	Standard	NM_001628	NM_001628	NA	Approved	AR	uc003vrp.1	P15121	OTTHUMG00000155322	ENST00000285930.4:c.567A>G	7.37:g.134133231T>C		NA	B2R8N3|Q5U031|Q6FGA4|Q6ICP2|Q9BS21|Q9UCI9	37	CCDS5831.1																																																																																			AKR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339448.2		-	ENST00000285930.4	Silent	SNP	7 : 134133231 - 134133231 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	212	17
SYNE2	23224	broad.mit.edu	37	14	64532244	64532244	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64532244G>T	ENST00000554584.1	+	51	10457	c.10406G>T	c.(10405-10407)gGc>gTc	p.G3469V	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.G3436V|SYNE2_ENST00000344113.4_Missense_Mutation_p.G3436V|SYNE2_ENST00000555002.1_Missense_Mutation_p.G70V			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3436					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAAAATGATGGCATATGTTTG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	160	162			NA	NA	14		NA											NA				64532244		1948	4151	6099	SO:0001583	missense			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654	23224	23224			17084	protein-coding gene	gene with protein product	nuclear envelope spectrin repeat-2, nucleus and actin connecting element	608442			NA	10231032, 10878022	Standard	NM_182914	NM_182910	NA	Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000554584.1:c.10406G>T	14.37:g.64532244G>T	ENSP00000452570:p.Gly3469Val	NA	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	37		.	.	.	.	.	.	.	.	.	.	G	10.27	1.302938	0.23736	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002	T;T;T;T	0.47528	1.41;0.84;1.41;4.19	5.2	0.842	0.18927	.	0.684405	0.14471	N	0.317589	T	0.24851	0.0603	N	0.19112	0.55	0.09310	N	0.999998	B;P	0.36183	0.407;0.542	B;B	0.34385	0.088;0.181	T	0.10730	-1.0617	10	0.41790	T	0.15	.	1.6822	0.02834	0.2422:0.184:0.4448:0.1291	.	3436;3436	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	V	3436;3436;3469;3469;70	ENSP00000350719:G3436V;ENSP00000341781:G3436V;ENSP00000452570:G3469V;ENSP00000450831:G70V	ENSP00000261678:G3469V	G	+	2	0	SYNE2	63601997	0.007000	0.16637	0.000000	0.03702	0.264000	0.26372	1.415000	0.34748	0.171000	0.19730	0.650000	0.86243	GGC	SYNE2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000411905.1		+	ENST00000554584.1	Missense_Mutation	SNP	14 : 64532244 - 64532244 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	357	22
CPSF2	53981	broad.mit.edu	37	14	92608558	92608558	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92608558G>A	ENST00000298875.4	+	8	997	c.712G>A	c.(712-714)Gac>Aac	p.D238N		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	238					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		AATAGCAGTGGACACAGCAGG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(78;28 1788 18702 44111)							NA				0													216	192	201			NA	NA	14		NA											NA				92608558		2203	4300	6503	SO:0001583	missense			AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934	53981	53981			2325	protein-coding gene	gene with protein product		606028	cleavage and polyadenylation specific factor 2, 100kD subunit		NA	7969155, 11124543	Standard		NM_017437	NA	Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.712G>A	14.37:g.92608558G>A	ENSP00000298875:p.Asp238Asn	NA	B3KME1|Q6NSJ1|Q9H3W7	37	CCDS9902.1	.	.	.	.	.	.	.	.	.	.	G	35	5.566748	0.96540	.	.	ENSG00000165934	ENST00000298875	T	0.52295	0.67	5.5	5.5	0.81552	.	0.045879	0.85682	D	0.000000	T	0.77212	0.4097	M	0.93763	3.455	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.81466	-0.0920	10	0.46703	T	0.11	.	19.4	0.94625	0.0:0.0:1.0:0.0	.	238	Q9P2I0	CPSF2_HUMAN	N	238	ENSP00000298875:D238N	ENSP00000298875:D238N	D	+	1	0	CPSF2	91678311	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.746000	0.98859	2.575000	0.86900	0.563000	0.77884	GAC	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412123.1		+	ENST00000298875.4	Missense_Mutation	SNP	14 : 92608558 - 92608558 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	671	145
OGDHL	55753	broad.mit.edu	37	10	50955097	50955097	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50955097C>T	ENST00000374103.4	-	9	1230	c.1145G>A	c.(1144-1146)cGt>cAt	p.R382H	OGDHL_ENST00000432695.1_Missense_Mutation_p.R173H|OGDHL_ENST00000419399.1_Missense_Mutation_p.R325H	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	382					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGCATCTCCACGGTAGAACTG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	156	164			NA	NA	10		NA											NA				50955097		2203	4300	6503	SO:0001583	missense			AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444	55753	55753			25590	protein-coding gene	gene with protein product					NA	10574462	Standard	NM_018245	NM_018245	NA	Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1145G>A	10.37:g.50955097C>T	ENSP00000363216:p.Arg382His	NA	A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	37	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160670	0.57368	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	T;T;T	0.14640	2.49;2.49;3.34	5.97	5.07	0.68467	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	T	0.14830	0.0358	L	0.58969	1.84	0.80722	D	1	B;B;P	0.41420	0.305;0.052;0.749	B;B;B	0.34652	0.118;0.083;0.187	T	0.03587	-1.1022	10	0.31617	T	0.26	.	15.1812	0.72960	0.0:0.9326:0.0:0.0674	.	325;173;382	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	H	382;325;173	ENSP00000363216:R382H;ENSP00000401356:R325H;ENSP00000390240:R173H	ENSP00000363216:R382H	R	-	2	0	OGDHL	50625103	1.000000	0.71417	0.990000	0.47175	0.748000	0.42578	7.574000	0.82434	1.542000	0.49330	0.655000	0.94253	CGT	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048007.1		-	ENST00000374103.4	Missense_Mutation	SNP	10 : 50955097 - 50955097 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	494	90
WDR78	79819	broad.mit.edu	37	1	67301382	67301382	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67301382C>T	ENST00000371026.3	-	11	1715	c.1660G>A	c.(1660-1662)Gtt>Att	p.V554I	WDR78_ENST00000431318.1_Missense_Mutation_p.V300I	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	554										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TGATAGCCAACGGCTAAAAGG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	104	103	103		1660	4.4	1	1		103	0,8600		0,0,4300	no	missense	WDR78	NM_024763.4	29	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	possibly-damaging	554/849	67301382	1,13005	2203	4300	6503	SO:0001583	missense			BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763	79819	79819		WD repeat domain containing	26252	protein-coding gene	gene with protein product					NA	21953912	Standard	NM_024763	NM_207014	NA	Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.1660G>A	1.37:g.67301382C>T	ENSP00000360065:p.Val554Ile	NA	A8K9W5|B5MDT3|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	37	CCDS635.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597193	0.66332	2.27E-4	0.0	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352	T;T;T	0.67865	1.44;-0.29;-0.29	5.35	4.43	0.53597	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.162824	0.53938	D	0.000052	T	0.48114	0.1482	L	0.46157	1.445	0.41589	D	0.988782	P;P	0.40534	0.72;0.599	B;B	0.37833	0.259;0.133	T	0.55717	-0.8097	10	0.44086	T	0.13	-9.4496	14.3454	0.66658	0.0:0.9272:0.0:0.0728	.	300;554	Q5VTH9-3;Q5VTH9	.;WDR78_HUMAN	I	554;300;320	ENSP00000360065:V554I;ENSP00000393182:V300I;ENSP00000433682:V320I	ENSP00000360065:V554I	V	-	1	0	WDR78	67073970	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	3.904000	0.56325	2.514000	0.84764	0.644000	0.83932	GTT	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025404.1		-	ENST00000371026.3	Missense_Mutation	SNP	1 : 67301382 - 67301382 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	445	97
PDIA3	2923	broad.mit.edu	37	15	44059072	44059072	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44059072C>A	ENST00000300289.5	+	8	1140	c.992C>A	c.(991-993)gCt>gAt	p.A331D	PDIA3_ENST00000538521.1_Missense_Mutation_p.A311D	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	331					cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		ATCAGAACTGCTAAAGGAGAG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	129	127			NA	NA	15		NA											NA				44059072		2198	4298	6496	SO:0001583	missense				CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	2923	2923	5.3.4.1	Protein disulfide isomerases	4606	protein-coding gene	gene with protein product		602046	glucose regulated protein, 58kDa, protein disulfide isomerase-associated 3	GRP58	NA	8974399	Standard	NM_005313	NM_005313	NA	Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444	ENST00000300289.5:c.992C>A	15.37:g.44059072C>A	ENSP00000300289:p.Ala331Asp	NA	Q13453|Q14255|Q8IYF8|Q9UMU7	37	CCDS10101.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.391325	0.42410	.	.	ENSG00000167004	ENST00000300289;ENST00000538826;ENST00000537673;ENST00000538521	T;T	0.30714	1.52;1.52	5.74	5.74	0.90152	Thioredoxin-like fold (1);	0.143545	0.64402	D	0.000007	T	0.34571	0.0902	M	0.61703	1.905	0.80722	D	1	B;B	0.12630	0.003;0.006	B;B	0.09377	0.004;0.004	T	0.14952	-1.0454	10	0.18276	T	0.48	.	19.9248	0.97099	0.0:1.0:0.0:0.0	.	311;331	G5EA52;P30101	.;PDIA3_HUMAN	D	331;306;105;311	ENSP00000300289:A331D;ENSP00000438260:A311D	ENSP00000300289:A331D	A	+	2	0	PDIA3	41846364	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.937000	0.56575	2.683000	0.91414	0.655000	0.94253	GCT	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000103532.3		+	ENST00000300289.5	Missense_Mutation	SNP	15 : 44059072 - 44059072 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	771	31
EPB41L4A	64097	broad.mit.edu	37	5	111615981	111615981	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:111615981C>T	ENST00000261486.5	-	3	520	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	82	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TTGATCAGTTCTTTGTGTTCA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													224	209	214			NA	NA	5		NA											NA				111615981		1850	4099	5949	SO:0001583	missense			AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595	64097	64097			13278	protein-coding gene	gene with protein product		612141			NA	10874211	Standard		XM_005272043	NA	Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.244G>A	5.37:g.111615981C>T	ENSP00000261486:p.Glu82Lys	NA	A4FUI6	37	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455780	0.43634	.	.	ENSG00000129595	ENST00000261486	T	0.75589	-0.95	5.74	5.74	0.90152	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.065340	0.64402	D	0.000005	T	0.52403	0.1732	N	0.00894	-1.105	0.40684	D	0.982336	P	0.47253	0.892	P	0.48488	0.579	T	0.61559	-0.7038	10	0.02654	T	1	.	18.7072	0.91643	0.0:1.0:0.0:0.0	.	82	Q9HCS5	E41LA_HUMAN	K	82	ENSP00000261486:E82K	ENSP00000261486:E82K	E	-	1	0	EPB41L4A	111643880	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	6.005000	0.70716	2.715000	0.92844	0.655000	0.94253	GAA	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370969.1		-	ENST00000261486.5	Missense_Mutation	SNP	5 : 111615981 - 111615981 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1365	252
RASGRP3	25780	broad.mit.edu	37	2	33783829	33783829	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:33783829G>A	ENST00000403687.3	+	17	2536	c.1796G>A	c.(1795-1797)cGc>cAc	p.R599H	RASGRP3_ENST00000402538.3_Missense_Mutation_p.R599H|RASGRP3_ENST00000407811.1_Missense_Mutation_p.R598H|AC020594.5_ENST00000437680.1_RNA	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	599					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					GGCTCTTCTCGCAAGATCTCT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689	25780	25780		EF-hand domain containing	14545	protein-coding gene	gene with protein product		609531			NA	10048485, 10934204	Standard	NM_015376	NM_170672	NA	Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.1796G>A	2.37:g.33783829G>A	ENSP00000384192:p.Arg599His	NA	O94931	37	CCDS46256.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922374	0.52653	.	.	ENSG00000152689	ENST00000402538;ENST00000403687;ENST00000407811	T;T;T	0.78481	-1.18;-1.18;-1.18	5.45	4.57	0.56435	.	0.268189	0.36703	N	0.002459	T	0.60547	0.2277	L	0.27053	0.805	0.32515	N	0.537021	P;P	0.43633	0.813;0.813	B;B	0.32864	0.154;0.154	T	0.69003	-0.5260	10	0.39692	T	0.17	-5.3184	10.9647	0.47406	0.1982:0.0:0.8018:0.0	.	598;599	D6W583;Q8IV61	.;GRP3_HUMAN	H	599;599;598	ENSP00000385886:R599H;ENSP00000384192:R599H;ENSP00000383917:R598H	ENSP00000385886:R599H	R	+	2	0	RASGRP3	33637333	0.988000	0.35896	0.998000	0.56505	0.997000	0.91878	3.486000	0.53215	1.278000	0.44430	0.650000	0.86243	CGC	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325462.2		+	ENST00000403687.3	Missense_Mutation	SNP	2 : 33783829 - 33783829 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	364	15
MKL2	57496	broad.mit.edu	37	16	14334513	14334513	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14334513C>T	ENST00000573051.1	+	9	1126	c.968C>T	c.(967-969)gCc>gTc	p.A323V	MKL2_ENST00000571589.1_Intron|MKL2_ENST00000572567.1_3'UTR|MKL2_ENST00000318282.5_Intron|MKL2_ENST00000574045.1_Intron|MKL2_ENST00000341243.5_Intron			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	0					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTGAGAGTGGCCTGCATTCCA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	152	155			NA	NA	16		NA											NA				14334513		876	1991	2867	SO:0001583	missense			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260	57496	57496			29819	protein-coding gene	gene with protein product		609463			NA	10574462	Standard	NM_014048	NM_014048	NA	Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000573051.1:c.968C>T	16.37:g.14334513C>T	ENSP00000460589:p.Ala323Val	NA	A6ND53|Q68CT1|Q6UB16|Q86WW2|Q8N226	37		.	.	.	.	.	.	.	.	.	.	C	15.51	2.856035	0.51376	.	.	ENSG00000186260	ENST00000389126	.	.	.	4.04	-1.67	0.08238	.	.	.	.	.	T	0.27063	0.0663	.	.	.	0.25064	N	0.991046	B	0.06786	0.001	B	0.04013	0.001	T	0.27839	-1.0062	7	0.87932	D	0	.	4.212	0.10515	0.0:0.3797:0.3208:0.2994	.	323	Q9ULH7-2	.	V	405	.	ENSP00000373778:A405V	A	+	2	0	MKL2	14242014	0.000000	0.05858	0.005000	0.12908	0.018000	0.09664	-0.916000	0.04029	-0.242000	0.09667	0.467000	0.42956	GCC	MKL2-005	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000436628.2		+	ENST00000573051.1	Missense_Mutation	SNP	16 : 14334513 - 14334513 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	565	94
NAPEPLD	222236	broad.mit.edu	37	7	102760532	102760532	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102760532G>T	ENST00000417955.1	-	3	587	c.433C>A	c.(433-435)Ctc>Atc	p.L145I	NAPEPLD_ENST00000427257.1_Missense_Mutation_p.L145I|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.L145I|NAPEPLD_ENST00000455523.2_Missense_Mutation_p.L218I|NAPEPLD_ENST00000465647.1_Missense_Mutation_p.L145I			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	145					phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGATCCGTGAGAAATATGAGC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	123	136			NA	NA	7		NA											NA				102760532		2203	4300	6503	SO:0001583	missense			BC037350, AY357337	CCDS5729.1	7q22.1	2014-03-14			ENSG00000161048	ENSG00000161048	222236	222236	3.1.4.54		21683	protein-coding gene	gene with protein product	chromosome 7 open reading frame 18, N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D	612334			NA	14634025, 15820312, 18067139	Standard	NM_198990	NM_198990	NA	Approved	FMP30, C7orf18, NAPE-PLD	uc003vbd.2	Q6IQ20	OTTHUMG00000157204	ENST00000417955.1:c.433C>A	7.37:g.102760532G>T	ENSP00000407112:p.Leu145Ile	NA	Q5CZ87|Q769K1	37	CCDS5729.1	.	.	.	.	.	.	.	.	.	.	G	34	5.313779	0.95655	.	.	ENSG00000161048	ENST00000341533;ENST00000417955;ENST00000465647;ENST00000427257;ENST00000455523	D;D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1;-3.1	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.96219	0.8767	M	0.81239	2.535	0.80722	D	1	D;D	0.64830	0.994;0.994	D;P	0.67725	0.953;0.889	D	0.95625	0.8684	10	0.56958	D	0.05	-16.9828	20.3334	0.98727	0.0:0.0:1.0:0.0	.	218;145	B4E3B0;Q6IQ20	.;NAPEP_HUMAN	I	145;145;145;145;218	ENSP00000340093:L145I;ENSP00000407112:L145I;ENSP00000419188:L145I;ENSP00000392775:L145I;ENSP00000414364:L218I	ENSP00000340093:L145I	L	-	1	0	NAPEPLD	102547768	1.000000	0.71417	0.868000	0.34077	0.980000	0.70556	8.004000	0.88535	2.818000	0.97014	0.591000	0.81541	CTC	NAPEPLD-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347904.1		-	ENST00000417955.1	Missense_Mutation	SNP	7 : 102760532 - 102760532 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	474	112
SLC23A2	9962	broad.mit.edu	37	20	4855240	4855240	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:4855240C>T	ENST00000379333.1	-	10	1319	c.927G>A	c.(925-927)caG>caA	p.Q309Q	SLC23A2_ENST00000338244.1_Silent_p.Q309Q|SLC23A2_ENST00000424750.2_Silent_p.Q195Q|SLC23A2_ENST00000468355.1_5'UTR	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	309					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTTTGAACAGCTGTAACTTGT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													194	186	188			NA	NA	20		NA											NA				4855240		2203	4300	6503	SO:0001819	synonymous_variant			AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057	9962	9962		Solute carriers	10973	protein-coding gene	gene with protein product		603791	solute carrier family 23 (nucleobase transporters), member 1	SLC23A1	NA	9804989, 10331392	Standard		NM_005116	NA	Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.927G>A	20.37:g.4855240C>T		NA	Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	37	CCDS13085.1	.	.	.	.	.	.	.	.	.	.	C	0.083	-1.180732	0.01633	.	.	ENSG00000089057	ENST00000423430	.	.	.	5.44	-1.36	0.09085	.	.	.	.	.	T	0.50086	0.1595	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39354	-0.9618	4	.	.	.	-9.0181	5.6703	0.17719	0.0:0.475:0.2403:0.2847	.	.	.	.	T	66	.	.	A	-	1	0	SLC23A2	4803240	1.000000	0.71417	0.976000	0.42696	0.005000	0.04900	2.191000	0.42640	-0.233000	0.09797	-0.176000	0.13171	GCT	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077832.1		-	ENST00000379333.1	Silent	SNP	20 : 4855240 - 4855240 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	799	139
UBN2	254048	broad.mit.edu	37	7	138946167	138946167	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138946167C>T	ENST00000473989.3	+	6	1075	c.1075C>T	c.(1075-1077)Cca>Tca	p.P359S	UBN2_ENST00000288561.8_Missense_Mutation_p.P276S	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	NA										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GAATAAACCCCCATGTGCTGC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	74	74			NA	NA	7		NA											NA				138946167		1872	4104	5976	SO:0001583	missense			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741	254048	254048			21931	protein-coding gene	gene with protein product		613841			NA	19029251	Standard	NM_173569	NM_173569	NA	Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.1075C>T	7.37:g.138946167C>T	ENSP00000418648:p.Pro359Ser	NA	A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	37	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076166	0.36662	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.19394	2.15;2.15	6.08	5.2	0.72013	.	0.433070	0.27134	N	0.020763	T	0.19604	0.0471	L	0.52759	1.655	0.09310	N	0.999991	B	0.02656	0.0	B	0.04013	0.001	T	0.13953	-1.0490	9	.	.	.	-2.9185	10.8085	0.46531	0.0:0.8016:0.1305:0.0679	.	359	Q6ZU65	UBN2_HUMAN	S	359;276	ENSP00000418648:P359S;ENSP00000288561:P276S	.	P	+	1	0	UBN2	138596707	0.074000	0.21230	0.044000	0.18714	0.311000	0.27955	1.710000	0.37920	1.593000	0.50029	0.655000	0.94253	CCA	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349272.3		+	ENST00000473989.3	Missense_Mutation	SNP	7 : 138946167 - 138946167 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	409	62
TBC1D9	23158	broad.mit.edu	37	4	141578910	141578910	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141578910G>A	ENST00000442267.2	-	12	2052	c.1978C>T	c.(1978-1980)Ctg>Ttg	p.L660L		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	660	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CAGTCGTACAGCTGTGGGACG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													197	195	196			NA	NA	4		NA											NA				141578910		2124	4239	6363	SO:0001819	synonymous_variant			AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436	23158	23158		EF-hand domain containing	21710	protein-coding gene	gene with protein product			TBC1 domain family, member 9		NA	12970790	Standard	NM_015130	NM_015130	NA	Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.1978C>T	4.37:g.141578910G>A		NA	A6H8U8|D3DNZ1|O94958	37	CCDS47136.1																																																																																			TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364806.1		-	ENST00000442267.2	Silent	SNP	4 : 141578910 - 141578910 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	862	169
ESYT3	83850	broad.mit.edu	37	3	138192394	138192394	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138192394C>T	ENST00000389567.4	+	19	2440	c.2254C>T	c.(2254-2256)Cga>Tga	p.R752*	ESYT3_ENST00000460133.1_3'UTR	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	752						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GGACCTCAGGCGACGGCAGCT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	115	112			NA	NA	3		NA											NA				138192394		2053	4188	6241	SO:0001587	stop_gained			AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220	83850	83850		Synaptotagmins	24295	protein-coding gene	gene with protein product			family with sequence similarity 62 (C2 domain containing), member C	FAM62C	NA	11543631, 17672888	Standard	NM_031913	NM_031913	NA	Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.2254C>T	3.37:g.138192394C>T	ENSP00000374218:p.Arg752*	NA	A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	37	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	C	38	7.071072	0.98044	.	.	ENSG00000158220	ENST00000389567	.	.	.	4.83	1.96	0.26148	.	1.153470	0.06567	N	0.747700	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-21.8153	8.2911	0.31958	0.4533:0.3999:0.1468:0.0	.	.	.	.	X	752	.	ENSP00000374218:R752X	R	+	1	2	ESYT3	139675084	0.050000	0.20438	0.001000	0.08648	0.012000	0.07955	0.631000	0.24568	0.314000	0.23086	-0.127000	0.14921	CGA	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000303993.1		+	ENST00000389567.4	Nonsense_Mutation	SNP	3 : 138192394 - 138192394 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	856	140
TG	7038	broad.mit.edu	37	8	134025901	134025901	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:134025901G>A	ENST00000220616.4	+	37	6494	c.6454G>A	c.(6454-6456)Gtg>Atg	p.V2152M	TG_ENST00000522523.1_3'UTR|TG_ENST00000542445.1_Missense_Mutation_p.V522M|TG_ENST00000377869.1_Missense_Mutation_p.V2095M|TG_ENST00000519543.1_Missense_Mutation_p.V285M	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2152					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.V2152L(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACCTGGGGCTGTGAGATGTAT	0.517		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)											131	113	119			NA	NA	8		NA											NA				134025901		2203	4300	6503	SO:0001583	missense			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832	7038	7038			11764	protein-coding gene	gene with protein product		188450			NA		Standard	NM_003235	NM_003235	NA	Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.6454G>A	8.37:g.134025901G>A	ENSP00000220616:p.Val2152Met	NA	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	37	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.314|8.314	0.822879|0.822879	0.16678|0.16678	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000519178|ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	.|T;T;T;T	.|0.70164	.|-0.25;-0.27;-0.46;-0.44	5.18|5.18	2.39|2.39	0.29439|0.29439	.|.	.|0.507061	.|0.18166	.|N	.|0.149606	T|T	0.56717|0.56717	0.2004|0.2004	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.22414	.|0.042;0.069;0.042	.|B;B;B	.|0.24701	.|0.028;0.055;0.046	T|T	0.52609|0.52609	-0.8553|-0.8553	5|10	.|0.62326	.|D	.|0.03	.|.	5.6691|5.6691	0.17713|0.17713	0.1781:0.1606:0.6613:0.0|0.1781:0.1606:0.6613:0.0	.|.	.|285;522;2152	.|E7EVM0;F5GWW5;P01266	.|.;.;THYG_HUMAN	Y|M	607|2095;958;2152;522;285	.|ENSP00000367100:V2095M;ENSP00000220616:V2152M;ENSP00000441693:V522M;ENSP00000430430:V285M	.|ENSP00000220616:V2152M	C|V	+|+	2|1	0|0	TG|TG	134095083|134095083	0.561000|0.561000	0.26578|0.26578	0.229000|0.229000	0.23960|0.23960	0.381000|0.381000	0.30169|0.30169	1.029000|1.029000	0.30140|0.30140	0.279000|0.279000	0.22186|0.22186	-0.254000|-0.254000	0.11334|0.11334	TGT|GTG	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379606.1		+	ENST00000220616.4	Missense_Mutation	SNP	8 : 134025901 - 134025901 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	399	80
LGR5	8549	broad.mit.edu	37	12	71978503	71978503	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:71978503C>T	ENST00000266674.5	+	18	3024	c.2713C>T	c.(2713-2715)Cca>Tca	p.P905S	LGR5_ENST00000540815.2_Missense_Mutation_p.P881S|LGR5_ENST00000536515.1_Missense_Mutation_p.P833S			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	905						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GGCATTTGTCCCATGTCTCTA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	97	99			NA	NA	12		NA											NA				71978503		2203	4300	6503	SO:0001583	missense			AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12			8549	8549		GPCR / Class A : Orphans	4504	protein-coding gene	gene with protein product		606667	G protein-coupled receptor 49, leucine-rich repeat-containing G protein-coupled receptor 5	GPR67, GPR49	NA	9642114	Standard	NM_003667	NM_003667	NA	Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.2713C>T	12.37:g.71978503C>T	ENSP00000266674:p.Pro905Ser	NA	Q4VAM0|Q4VAM2|Q9UP75	37	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.317289	0.40996	.	.	ENSG00000139292	ENST00000266674;ENST00000536515;ENST00000540815	T;T;T	0.57595	0.45;0.39;0.49	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000004	T	0.45216	0.1331	L	0.43923	1.385	0.45822	D	0.998691	B;B	0.33528	0.416;0.292	B;B	0.35278	0.199;0.098	T	0.28267	-1.0049	10	0.10636	T	0.68	.	15.5055	0.75735	0.0:0.9323:0.0:0.0677	.	881;905	O75473-2;O75473	.;LGR5_HUMAN	S	905;833;881	ENSP00000266674:P905S;ENSP00000443033:P833S;ENSP00000441035:P881S	ENSP00000266674:P905S	P	+	1	0	LGR5	70264770	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.815000	0.62634	2.833000	0.97629	0.585000	0.79938	CCA	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404744.1		+	ENST00000266674.5	Missense_Mutation	SNP	12 : 71978503 - 71978503 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	672	106
PRTG	283659	broad.mit.edu	37	15	55912364	55912364	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55912364C>T	ENST00000389286.4	-	20	3346	c.3299G>A	c.(3298-3300)aGc>aAc	p.S1100N		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	1100					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TCTTGAGAAGCTGGTTGTCTG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	110	111			NA	NA	15		NA											NA				55912364		1893	4115	6008	SO:0001583	missense			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450	283659	283659		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	26373	protein-coding gene	gene with protein product	immunoglobulin superfamily, DCC subclass, member 5	613261	protogenin homolog (Gallus gallus)		NA		Standard	NM_173814	NM_173814	NA	Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.3299G>A	15.37:g.55912364C>T	ENSP00000373937:p.Ser1100Asn	NA	Q8N7D8	37	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	C	8.289	0.817317	0.16607	.	.	ENSG00000166450	ENST00000389286	T	0.53640	0.61	5.84	-0.687	0.11320	.	0.386496	0.30501	N	0.009484	T	0.28167	0.0695	L	0.31294	0.92	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.02950	-1.1090	10	0.36615	T	0.2	-6.4774	5.4248	0.16419	0.0:0.3966:0.2439:0.3595	.	1100	Q2VWP7	PRTG_HUMAN	N	1100	ENSP00000373937:S1100N	ENSP00000373937:S1100N	S	-	2	0	PRTG	53699656	0.001000	0.12720	0.912000	0.35992	0.489000	0.33432	-0.035000	0.12205	-0.109000	0.12044	-0.808000	0.03180	AGC	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419357.1		-	ENST00000389286.4	Missense_Mutation	SNP	15 : 55912364 - 55912364 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	519	82
DUSP15	128853	broad.mit.edu	37	20	30436230	30436230	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30436230C>T	ENST00000278979.3	-	10	941	c.865G>A	c.(865-867)Gct>Act	p.A289T				Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	289						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GAAGAGGAAGCGGCTCGCTTA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	45	46			NA	NA	20		NA											NA				30436230		876	1991	2867	SO:0001583	missense				CCDS13193.1, CCDS42862.1	20q11.21	2011-06-09	2005-03-09		ENSG00000149599	ENSG00000149599	128853	128853		Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases	16236	protein-coding gene	gene with protein product			dual specificity phosphatase-like 15		NA	15138252	Standard	NM_080611	NM_080611	NA	Approved	bA243J16.6, VHY	uc002wwx.1	Q9H1R2	OTTHUMG00000032182	ENST00000278979.3:c.865G>A	20.37:g.30436230C>T	ENSP00000278979:p.Ala289Thr	NA	A6NH79|Q5QP62|Q5QP63|Q5QP65|Q6PGN7|Q8N826|Q9BX24	37		.	.	.	.	.	.	.	.	.	.	C	6.441	0.449474	0.12223	.	.	ENSG00000149599	ENST00000278979	T	0.05447	3.44	3.47	-3.16	0.05217	.	1304.840000	0.00447	N	0.000094	T	0.05410	0.0143	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42207	-0.9465	9	0.87932	D	0	.	4.7351	0.12984	0.1503:0.5149:0.0:0.3348	.	289	Q9H1R2	DUS15_HUMAN	T	289	ENSP00000278979:A289T	ENSP00000278979:A289T	A	-	1	0	DUSP15	29899891	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.937000	0.00330	-0.779000	0.04560	-1.327000	0.01280	GCT	DUSP15-004	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000078555.3		-	ENST00000278979.3	Missense_Mutation	SNP	20 : 30436230 - 30436230 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	251	35
FKBP15	23307	broad.mit.edu	37	9	115965247	115965247	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115965247C>T	ENST00000238256.3	-	5	510	c.393G>A	c.(391-393)gaG>gaA	p.E131E		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	131	Important for function in growth cone organization (By similarity).				endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TTACCATTAGCTCAAAGTTCA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	73	75			NA	NA	9		NA											NA				115965247		1868	4120	5988	SO:0001819	synonymous_variant			AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321	23307	23307		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	23397	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 76, WASP and FKBP-like protein		KIAA0674	KIAA0674	NA	16756961, 20376207	Standard	NM_015258	NM_015258	NA	Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.393G>A	9.37:g.115965247C>T		NA	Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	37	CCDS48007.1																																																																																			FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding			-	ENST00000238256.3	Silent	SNP	9 : 115965247 - 115965247 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	119	19
LRP6	4040	broad.mit.edu	37	12	12274332	12274332	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12274332G>A	ENST00000543091.1	-	23	4468	c.4435C>T	c.(4435-4437)Cac>Tac	p.H1479Y	LRP6_ENST00000261349.4_Missense_Mutation_p.H1524Y|BCL2L14_ENST00000396369.1_Intron			O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1524					cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGTGCAAAGTGCCGGTAGCTA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	100	99			NA	NA	12		NA											NA				12274332		2203	4300	6503	SO:0001583	missense			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018	4040	4040		Low density lipoprotein receptors	6698	protein-coding gene	gene with protein product		603507			NA	9704021	Standard		NM_002336	NA	Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000543091.1:c.4435C>T	12.37:g.12274332G>A	ENSP00000442472:p.His1479Tyr	NA	Q17RZ2	37		.	.	.	.	.	.	.	.	.	.	G	13.79	2.343291	0.41498	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.92965	-3.08;-3.14	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000004	D	0.90208	0.6939	L	0.43152	1.355	0.58432	D	0.999998	P;B	0.46912	0.886;0.012	B;B	0.41510	0.359;0.008	D	0.90167	0.4232	10	0.49607	T	0.09	.	20.1821	0.98206	0.0:0.0:1.0:0.0	.	1479;1524	F5H7J9;O75581	.;LRP6_HUMAN	Y	1524;1479	ENSP00000261349:H1524Y;ENSP00000442472:H1479Y	ENSP00000261349:H1524Y	H	-	1	0	LRP6	12165599	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.044000	0.71012	2.780000	0.95670	0.643000	0.83706	CAC	LRP6-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000400140.1		-	ENST00000543091.1	Missense_Mutation	SNP	12 : 12274332 - 12274332 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	698	93
PDE8A	5151	broad.mit.edu	37	15	85658679	85658679	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85658679C>T	ENST00000310298.4	+	16	1612	c.1360C>T	c.(1360-1362)Cga>Tga	p.R454*	PDE8A_ENST00000339708.5_Nonsense_Mutation_p.R408*|PDE8A_ENST00000394553.1_Nonsense_Mutation_p.R454*|PDE8A_ENST00000557957.1_Nonsense_Mutation_p.R382*			O60658	PDE8A_HUMAN	phosphodiesterase 8A	454					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			GGATGGTTTGCGAAGACTATC	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	129	130			NA	NA	15		NA											NA				85658679		2202	4299	6501	SO:0001587	stop_gained			AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	5151	5151	3.1.4.17	Phosphodiesterases	8793	protein-coding gene	gene with protein product		602972			NA	9618252	Standard	NM_002605	NM_001243137	NA	Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.1360C>T	15.37:g.85658679C>T	ENSP00000311453:p.Arg454*	NA	B3KXE6|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	37	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	C	39	7.550329	0.98352	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	.	.	.	5.66	2.66	0.31614	.	0.068745	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.5494	0.45079	0.1405:0.5885:0.271:0.0	.	.	.	.	X	454;454;408	.	ENSP00000311453:R454X	R	+	1	2	PDE8A	83459683	0.953000	0.32496	0.686000	0.30086	0.798000	0.45092	2.016000	0.40971	0.288000	0.22398	-0.176000	0.13171	CGA	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000309018.1		+	ENST00000310298.4	Nonsense_Mutation	SNP	15 : 85658679 - 85658679 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	192	24
RYR1	6261	broad.mit.edu	37	19	39028579	39028579	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39028579C>A	ENST00000355481.4	+	83	11784	c.11653C>A	c.(11653-11655)Ctc>Atc	p.L3885I	RYR1_ENST00000359596.3_Missense_Mutation_p.L3890I|RYR1_ENST00000360985.3_Missense_Mutation_p.L3885I	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3890					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)	CCTACAATTGCTCTGTGAGGG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	112	121			NA	NA	19		NA											NA				39028579		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.11653C>A	19.37:g.39028579C>A	ENSP00000347667:p.Leu3885Ile	NA	Q16314|Q16368|Q9NPK1|Q9P1U4	37	CCDS42563.1	.	.	.	.	.	.	.	.	.	.	c	13.51	2.258412	0.39896	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.70516	-0.49;-0.49;-0.49	4.85	3.8	0.43715	RyR/IP3R Homology associated domain (1);	0.000000	0.64402	U	0.000016	D	0.83004	0.5160	M	0.80616	2.505	0.46874	D	0.999236	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.67103	0.915;0.915;0.949	D	0.85657	0.1286	10	0.62326	D	0.03	.	14.3277	0.66530	0.0:0.8499:0.1501:0.0	.	3885;3885;3890	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	I	3890;3885;3885	ENSP00000352608:L3890I;ENSP00000347667:L3885I;ENSP00000354254:L3885I	ENSP00000347667:L3885I	L	+	1	0	RYR1	43720419	1.000000	0.71417	0.987000	0.45799	0.982000	0.71751	5.564000	0.67359	1.386000	0.46466	0.546000	0.68486	CTC	RYR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461017.2		+	ENST00000355481.4	Missense_Mutation	SNP	19 : 39028579 - 39028579 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	586	86
C10orf68	0	broad.mit.edu	37	10	33113457	33113457	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:33113457C>T	ENST00000375030.2	+	15	1576				C10orf68_ENST00000375025.4_Nonsense_Mutation_p.R372*|C10orf68_ENST00000375028.3_Nonsense_Mutation_p.R312*			Q9H943	CJ068_HUMAN		NA										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						GACTGATGAACGATTGCATAG	0.284		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	94	92			NA	NA	10		NA											NA				33113457		2203	4295	6498	SO:0001627	intron_variant											NA	NA			NA							NA					NA						ENST00000375030.2:c.959-10286C>T	10.37:g.33113457C>T		NA	B0QZ71|Q08AN7|Q8N7T7	37		.	.	.	.	.	.	.	.	.	.	.	16.79	3.219350	0.58560	.	.	ENSG00000150076	ENST00000302316;ENST00000375028;ENST00000375025;ENST00000375037	.	.	.	2.06	0.0262	0.14149	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.3043	0.06994	0.0:0.5489:0.2756:0.1754	.	.	.	.	X	336;312;372;284	.	ENSP00000303710:R336X	R	+	1	2	C10orf68	33153463	0.000000	0.05858	0.000000	0.03702	0.239000	0.25481	-1.988000	0.01482	0.021000	0.15133	0.305000	0.20034	CGA	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000313999.2		+	ENST00000375030.2	Intron	SNP	10 : 33113457 - 33113457 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	261	58
PPARGC1A	10891	broad.mit.edu	37	4	23833186	23833186	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:23833186C>T	ENST00000264867.2	-	3	542	c.423G>A	c.(421-423)ccG>ccA	p.P141P	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	141					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TTACTAGAGACGGCTCTTCTG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(29;694 744 13796 34866 44181)							NA				0								C		0,4406		0,0,2203	167	145	153		423	2.8	1	4		153	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PPARGC1A	NM_013261.3		0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077		141/799	23833186	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819	10891	10891		RNA binding motif (RRM) containing	9237	protein-coding gene	gene with protein product		604517	peroxisome proliferative activated receptor, gamma, coactivator 1, peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	PPARGC1	NA	10585775	Standard	NM_013261	NM_013261	NA	Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.423G>A	4.37:g.23833186C>T		NA	Q9UN32	37	CCDS3429.1																																																																																			PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214976.1		-	ENST00000264867.2	Silent	SNP	4 : 23833186 - 23833186 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	693	134
IL32	9235	broad.mit.edu	37	16	3117423	3117423	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3117423C>T	ENST00000534507.1	+	3	272	c.61C>T	c.(61-63)Ctc>Ttc	p.L21F	IL32_ENST00000528163.2_Intron|IL32_ENST00000552356.1_Intron|IL32_ENST00000008180.9_Intron|IL32_ENST00000548246.1_Intron|IL32_ENST00000533097.2_Intron|IL32_ENST00000525643.2_Intron|IL32_ENST00000444393.3_Intron|IL32_ENST00000396890.2_Missense_Mutation_p.L21F|IL32_ENST00000530538.2_Intron|IL32_ENST00000382213.3_Intron|IL32_ENST00000552936.1_Intron|IL32_ENST00000548476.1_Missense_Mutation_p.L21F|IL32_ENST00000530890.1_Intron|IL32_ENST00000440815.3_Intron|IL32_ENST00000325568.5_Intron|IL32_ENST00000531965.1_Intron|IL32_ENST00000529699.1_Intron|IL32_ENST00000549213.1_Intron|IL32_ENST00000548652.1_Intron|IL32_ENST00000526464.2_Intron|IL32_ENST00000396887.3_Intron|IL32_ENST00000552664.1_Intron|IL32_ENST00000551513.1_Missense_Mutation_p.L21F|IL32_ENST00000551122.1_Intron|IL32_ENST00000529550.1_Intron			P24001	IL32_HUMAN	interleukin 32	21					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						AATGGTAATGCTCCTCCCTAC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	124	129			NA	NA	16		NA											NA				3117423		2197	4300	6497	SO:0001583	missense			M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517	9235	9235		Interleukins and interleukin receptors	16830	protein-coding gene	gene with protein product	natural killer cell transcript 4	606001			NA	1729377, 9653642	Standard	NM_004221	XM_005255686	NA	Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	ENST00000534507.1:c.61C>T	16.37:g.3117423C>T	ENSP00000431775:p.Leu21Phe	NA	D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	37		.	.	.	.	.	.	.	.	.	.	C	13.22	2.170705	0.38315	.	.	ENSG00000008517	ENST00000534507;ENST00000548807;ENST00000396890;ENST00000525377;ENST00000548476;ENST00000551513	T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42	2.13	-1.14	0.09741	.	.	.	.	.	T	0.31071	0.0785	.	.	.	0.09310	N	1	B;B;B	0.29612	0.034;0.034;0.251	B;B;B	0.31245	0.061;0.061;0.126	T	0.20207	-1.0282	7	.	.	.	.	2.7767	0.05349	0.0:0.4225:0.2516:0.3259	.	21;21;21	F8VSD2;E9PIV2;P24001	.;.;IL32_HUMAN	F	21	ENSP00000431775:L21F;ENSP00000448354:L21F;ENSP00000380099:L21F;ENSP00000433866:L21F;ENSP00000449483:L21F;ENSP00000449147:L21F	.	L	+	1	0	IL32	3057424	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.898000	0.04105	-0.226000	0.09899	0.551000	0.68910	CTC	IL32-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000394812.2		+	ENST00000534507.1	Missense_Mutation	SNP	16 : 3117423 - 3117423 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	695	136
CST9L	128821	broad.mit.edu	37	20	23549084	23549084	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23549084G>T	ENST00000376979.3	-	1	302	c.4C>A	c.(4-6)Ctg>Atg	p.L2M		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	2						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GGCAGGCCCAGCATGGTGCTG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	55	56			NA	NA	20		NA											NA				23549084		2203	4300	6503	SO:0001583	missense				CCDS13157.1	20p11.21	2012-08-14	2008-03-06		ENSG00000101435	ENSG00000101435	128821	128821			16233	protein-coding gene	gene with protein product			cystatin 9 (mouse)-like		NA	20565543	Standard	NM_080610	NM_080610	NA	Approved	bA218C14.1, CTES7B	uc002wtk.4	Q9H4G1	OTTHUMG00000032073	ENST00000376979.3:c.4C>A	20.37:g.23549084G>T	ENSP00000366178:p.Leu2Met	NA	B2R5A1	37	CCDS13157.1	.	.	.	.	.	.	.	.	.	.	G	8.927	0.962408	0.18583	.	.	ENSG00000101435	ENST00000376979	T	0.14516	2.5	1.94	-3.45	0.04781	.	.	.	.	.	T	0.04770	0.0129	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.06405	0.002	T	0.40440	-0.9563	9	0.21014	T	0.42	.	2.7249	0.05211	0.4778:0.0:0.3052:0.217	.	2	Q9H4G1	CST9L_HUMAN	M	2	ENSP00000366178:L2M	ENSP00000366178:L2M	L	-	1	2	CST9L	23497084	0.000000	0.05858	0.000000	0.03702	0.116000	0.19942	-1.321000	0.02697	-0.956000	0.03631	0.313000	0.20887	CTG	CST9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078338.1		-	ENST00000376979.3	Missense_Mutation	SNP	20 : 23549084 - 23549084 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	141	11
DPP7	29952	broad.mit.edu	37	9	140005399	140005399	+	Missense_Mutation	SNP	G	G	A	rs149094336	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140005399G>A	ENST00000371579.2	-	12	1280	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	426						cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		AGGTTCCTCCGAATCTGTGGT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG	6,4390	11.4+/-27.6	0,6,2192	87	56	66		1276	3.7	0	9	dbSNP_134	66	0,8600		0,0,4300	yes	missense	DPP7	NM_013379.2	101	0,6,6492	AA,AG,GG	NA	0.0,0.1365,0.0462	probably-damaging	426/493	140005399	6,12990	2198	4300	6498	SO:0001583	missense			AF154502	CCDS7030.1	9q34.3	2008-02-05	2006-01-12		ENSG00000176978	ENSG00000176978	29952	29952			14892	protein-coding gene	gene with protein product		610537	dipeptidylpeptidase 7		NA	10477574, 11139392	Standard	NM_013379	XM_005266075	NA	Approved	DPPII	uc004clh.3	Q9UHL4	OTTHUMG00000020977	ENST00000371579.2:c.1276C>T	9.37:g.140005399G>A	ENSP00000360635:p.Arg426Trp	NA	A8K7U7|Q5VSF1|Q969X4	37	CCDS7030.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699278	0.48307	0.001365	0.0	ENSG00000176978	ENST00000371579	D	0.92299	-3.01	4.72	3.71	0.42584	.	0.988395	0.08220	N	0.979309	D	0.89125	0.6626	L	0.57536	1.79	0.09310	N	1	D	0.56035	0.974	B	0.37943	0.261	T	0.81420	-0.0941	10	0.49607	T	0.09	-3.1443	11.0004	0.47602	0.0:0.0:0.7615:0.2385	.	426	Q9UHL4	DPP2_HUMAN	W	426	ENSP00000360635:R426W	ENSP00000360635:R426W	R	-	1	2	DPP7	139125220	0.014000	0.17966	0.008000	0.14137	0.018000	0.09664	1.387000	0.34430	2.169000	0.68431	0.561000	0.74099	CGG	DPP7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055279.1		-	ENST00000371579.2	Missense_Mutation	SNP	9 : 140005399 - 140005399 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	169	27
TNFRSF10B	8795	broad.mit.edu	37	8	22884752	22884752	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22884752C>T	ENST00000276431.4	-	7	1114	c.830G>A	c.(829-831)aGt>aAt	p.S277N	TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.S97N|TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.S248N	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	277					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		CTGCAAGATACTCACGATCTC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(94;1064 1342 1839 21060 42553)							NA				0													97	89	92			NA	NA	8		NA											NA				22884752		2203	4300	6503	SO:0001583	missense			AF012628	CCDS6035.1, CCDS6036.1	8p22-p21	2006-02-22			ENSG00000120889	ENSG00000120889	8795	8795		Tumor necrosis factor receptor superfamily, CD molecules	11905	protein-coding gene	gene with protein product		603612			NA	9285725, 9311998	Standard	NM_147187	NM_003842	NA	Approved	DR5, KILLER, TRICK2A, TRAIL-R2, TRICKB, CD262	uc003xcu.2	O14763	OTTHUMG00000097826	ENST00000276431.4:c.830G>A	8.37:g.22884752C>T	ENSP00000276431:p.Ser277Asn	NA	O14720|O15508|O15517|O15531|Q6UXM8|Q7Z360|Q9BVE0	37	CCDS6035.1	.	.	.	.	.	.	.	.	.	.	c	6.689	0.495734	0.12762	.	.	ENSG00000120889	ENST00000276431;ENST00000347739;ENST00000542226	D;D;T	0.86769	-1.91;-2.17;2.71	2.5	-3.9	0.04181	.	7739.210000	0.00166	U	0.000000	T	0.77658	0.4163	L	0.40543	1.245	0.09310	N	1	B;B;B;B;B	0.33549	0.386;0.417;0.126;0.2;0.236	B;B;B;B;B	0.30782	0.075;0.052;0.038;0.12;0.031	T	0.62774	-0.6783	10	0.35671	T	0.21	.	0.879	0.01230	0.1718:0.2412:0.3395:0.2476	.	97;277;277;248;42	B7Z588;B5BU36;O14763;O14763-2;Q7Z2I8	.;.;TR10B_HUMAN;.;.	N	277;248;97	ENSP00000276431:S277N;ENSP00000317859:S248N;ENSP00000443386:S97N	ENSP00000276431:S277N	S	-	2	0	TNFRSF10B	22940697	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.548000	0.02184	-1.047000	0.03242	-0.282000	0.10007	AGT	TNFRSF10B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000215099.2		-	ENST00000276431.4	Missense_Mutation	SNP	8 : 22884752 - 22884752 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	56
TP53INP2	58476	broad.mit.edu	37	20	33298084	33298084	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33298084G>A	ENST00000374810.3	+	5	1025	c.636G>A	c.(634-636)caG>caA	p.Q212Q	TP53INP2_ENST00000374809.2_Silent_p.Q212Q|NCOA6_ENST00000593786.1_Intron	NM_021202.1	NP_067025.1	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	212						nucleus				endometrium(1)|urinary_tract(1)	2						TCATCTACCAGCCGTGCCAGC	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	22	22			NA	NA	20		NA											NA				33298084		2203	4297	6500	SO:0001819	synonymous_variant			AL109824	CCDS13240.1	20q11.22	2010-01-05	2004-06-18	2004-06-18	ENSG00000078804	ENSG00000078804	58476	58476			16104	protein-coding gene	gene with protein product	diabetes and obesity regulated		chromosome 20 open reading frame 110	C20orf110	NA	12477932	Standard	NM_021202	NM_021202	NA	Approved	FLJ21759, FLJ23500, DKFZp434B2411, DKFZp434O0827, dJ1181N3.1, PINH, DOR	uc002xau.1	Q8IXH6	OTTHUMG00000032310	ENST00000374810.3:c.636G>A	20.37:g.33298084G>A		NA	A8K8S8|E1P5P6|Q5JX64|Q8IYL5|Q9NU00	37	CCDS13240.1																																																																																			TP53INP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078807.2		+	ENST00000374810.3	Silent	SNP	20 : 33298084 - 33298084 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	104	22
NCAM2	4685	broad.mit.edu	37	21	22664525	22664525	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22664525G>T	ENST00000400546.1	+	5	832	c.583G>T	c.(583-585)Gaa>Taa	p.E195*	NCAM2_ENST00000284894.7_Nonsense_Mutation_p.E53*|NCAM2_ENST00000535285.1_Nonsense_Mutation_p.E220*	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	195	Ig-like C2-type 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GGCCAGGGGAGAAATTGACTT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	164	165			NA	NA	21		NA											NA				22664525		1843	4092	5935	SO:0001587	stop_gained				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654	4685	4685		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	7657	protein-coding gene	gene with protein product		602040			NA	9226371	Standard	NM_004540	NM_004540	NA	Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.583G>T	21.37:g.22664525G>T	ENSP00000383392:p.Glu195*	NA	A8MQ06|Q7Z7F2	37	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	G	38	6.876320	0.97904	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-29.6042	18.2691	0.90062	0.0:0.0:1.0:0.0	.	.	.	.	X	195;53;220	.	ENSP00000284894:E53X	E	+	1	0	NCAM2	21586396	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.396000	0.97270	2.733000	0.93635	0.655000	0.94253	GAA	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000170915.1		+	ENST00000400546.1	Nonsense_Mutation	SNP	21 : 22664525 - 22664525 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	336	42
PDE4D	5144	broad.mit.edu	37	5	59064094	59064094	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:59064094C>T	ENST00000507116.1	-	1	377	c.242G>A	c.(241-243)cGt>cAt	p.R81H	PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000546160.1_Intron|PDE4D_ENST00000502575.1_Missense_Mutation_p.R81H|PDE4D_ENST00000340635.6_Intron	NM_001197218.1	NP_001184147.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0	Pro-rich.				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	CACCGTGAAACGCCGCTGTTT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													268	242	250			NA	NA	5		NA											NA				59064094		876	1991	2867	SO:0001583	missense				CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				5144	5144	3.1.4.17	Phosphodiesterases	8783	protein-coding gene	gene with protein product	phosphodiesterase E3 dunce homolog (Drosophila)	600129	phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)	DPDE3	NA		Standard		NM_006203	NA	Approved		uc003jsa.2	Q08499		ENST00000507116.1:c.242G>A	5.37:g.59064094C>T	ENSP00000424852:p.Arg81His	NA	O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	37	CCDS56373.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120364	0.77323	.	.	ENSG00000113448	ENST00000507116;ENST00000502575	T;D	0.82344	-0.39;-1.6	5.1	5.1	0.69264	.	.	.	.	.	D	0.90967	0.7160	.	.	.	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.74674	0.938;0.984	D	0.90902	0.4769	8	0.49607	T	0.09	.	18.3194	0.90232	0.0:1.0:0.0:0.0	.	81;81	Q08499-12;Q08499-6	.;.	H	81	ENSP00000424852:R81H;ENSP00000425917:R81H	ENSP00000308485:R81H	R	-	2	0	PDE4D	59099851	1.000000	0.71417	0.978000	0.43139	0.983000	0.72400	7.289000	0.78701	2.634000	0.89283	0.655000	0.94253	CGT	PDE4D-012	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368103.2		-	ENST00000507116.1	Missense_Mutation	SNP	5 : 59064094 - 59064094 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	838	164
ZNF131	7690	broad.mit.edu	37	5	43161449	43161449	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43161449C>T	ENST00000509634.1	+	4	926	c.470C>T	c.(469-471)tCa>tTa	p.S157L	ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000399534.1_Missense_Mutation_p.S157L|ZNF131_ENST00000306938.4_Missense_Mutation_p.S157L|ZNF131_ENST00000505606.2_Missense_Mutation_p.S157L|ZNF131_ENST00000509156.1_Missense_Mutation_p.S157L			P52739	ZN131_HUMAN	zinc finger protein 131	157						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						ATCACTGAGTCATTGCCATCT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	103	106			NA	NA	5		NA											NA				43161449		1879	4122	6001	SO:0001583	missense			U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262	7690	7690		Zinc fingers, C2H2-type, -, BTB/POZ domain containing	12915	protein-coding gene	gene with protein product	zinc finger and BTB domain containing 35	604073	zinc finger protein 131 (clone pHZ-10)		NA		Standard	NM_003432	XM_005248359	NA	Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000509634.1:c.470C>T	5.37:g.43161449C>T	ENSP00000421246:p.Ser157Leu	NA	B4DRL3|Q6PIF0	37	CCDS43313.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439856	0.63067	.	.	ENSG00000172262	ENST00000515326;ENST00000509156;ENST00000306938;ENST00000399534;ENST00000505606;ENST00000509634	T;T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92;-0.92	5.18	5.18	0.71444	.	0.131313	0.52532	D	0.000067	T	0.63343	0.2503	N	0.19112	0.55	0.53005	D	0.999969	B;P	0.36909	0.278;0.573	B;B	0.36666	0.057;0.23	T	0.62964	-0.6742	10	0.30078	T	0.28	-6.1519	18.6914	0.91585	0.0:1.0:0.0:0.0	.	157;157	P52739;P52739-2	ZN131_HUMAN;.	L	157	ENSP00000422079:S157L;ENSP00000426504:S157L;ENSP00000305804:S157L;ENSP00000382450:S157L;ENSP00000423945:S157L;ENSP00000421246:S157L	ENSP00000305804:S157L	S	+	2	0	ZNF131	43197206	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.592000	0.67543	2.429000	0.82318	0.650000	0.86243	TCA	ZNF131-011	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367984.1		+	ENST00000509634.1	Missense_Mutation	SNP	5 : 43161449 - 43161449 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	530	106
ASPM	259266	broad.mit.edu	37	1	197111833	197111833	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197111833C>T	ENST00000367409.4	-	3	1805	c.1549G>A	c.(1549-1551)Gca>Aca	p.A517T	ASPM_ENST00000294732.7_Missense_Mutation_p.A517T	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	517					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CATCTTTTTGCTTTTGGTTTA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	176	174			NA	NA	1		NA											NA				197111833		2203	4300	6503	SO:0001583	missense			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279	259266	259266			19048	protein-coding gene	gene with protein product		605481	microcephaly, primary autosomal recessive 5, asp (abnormal spindle)-like, microcephaly associated (Drosophila)	MCPH5	NA	11078481	Standard	NM_018136	NM_018136	NA	Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.1549G>A	1.37:g.197111833C>T	ENSP00000356379:p.Ala517Thr	NA	Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004738	0.54254	.	.	ENSG00000066279	ENST00000367409;ENST00000294732	T;T	0.59906	0.23;1.49	5.44	3.31	0.37934	.	0.252448	0.34460	N	0.003950	T	0.50429	0.1615	M	0.66939	2.045	0.26256	N	0.97866	B;B	0.18461	0.012;0.028	B;B	0.20577	0.011;0.03	T	0.41197	-0.9522	10	0.33141	T	0.24	.	6.7476	0.23470	0.3664:0.5422:0.0:0.0914	.	517;517	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	T	517	ENSP00000356379:A517T;ENSP00000294732:A517T	ENSP00000294732:A517T	A	-	1	0	ASPM	195378456	1.000000	0.71417	0.905000	0.35620	0.985000	0.73830	4.067000	0.57527	1.437000	0.47472	-0.148000	0.13756	GCA	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088256.1		-	ENST00000367409.4	Missense_Mutation	SNP	1 : 197111833 - 197111833 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	951	172
PPP2R5B	5526	broad.mit.edu	37	11	64698961	64698961	+	Splice_Site	SNP	C	C	T	rs139176991	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64698961C>T	ENST00000164133.2	+	9	1567	c.945C>T	c.(943-945)caC>caT	p.H315H		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	315					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						TGACAGAGCACGTGAGTACCT	0.592		NA											C	4	0.0018	0.01	NA	2184	0.0017	0.9999	,	,	NA	3e-04	NA	NA	NA	0.0019	0.9692	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				0								C		5,4397	9.9+/-24.2	0,5,2196	72	59	64		945	-3.9	0.9	11	dbSNP_134	64	0,8594		0,0,4297	yes	coding-synonymous-near-splice	PPP2R5B	NM_006244.3		0,5,6493	TT,TC,CC	NA	0.0,0.1136,0.0385		315/498	64698961	5,12991	2201	4297	6498	SO:0001630	splice_region_variant			L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971	5526	5526		Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits	9310	protein-coding gene	gene with protein product	PP2A, B subunit, B' beta isoform, PP2A, B subunit, B56 beta isoform, PP2A, B subunit, PR61 beta isoform, PP2A, B subunit, R5 beta isoform, serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform	601644	protein phosphatase 2, regulatory subunit B (B56), beta isoform, protein phosphatase 2, regulatory subunit B', beta isoform		NA	7592815	Standard	NM_006244	NM_006244	NA	Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.945+1C>T	11.37:g.64698961C>T		NA	Q13853	37	CCDS8085.1	4	0.0018315018315018315	3	0.006097560975609756	0	0.0	1	0.0017482517482517483	0	0.0	C	0.301	-0.973927	0.02215	0.001136	0.0	ENSG00000068971	ENST00000359279	.	.	.	4.29	-3.86	0.04230	.	.	.	.	.	T	0.59783	0.2219	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68674	-0.5346	5	0.87932	D	0	-22.0535	11.6455	0.51259	0.0:0.5824:0.0:0.4176	.	.	.	.	C	341	.	ENSP00000352225:R341C	R	+	1	0	PPP2R5B	64455537	0.000000	0.05858	0.928000	0.36995	0.262000	0.26303	-1.788000	0.01763	-0.919000	0.03803	-0.379000	0.06801	CGT	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385465.1	Silent	+	ENST00000164133.2	Splice_Site	SNP	11 : 64698961 - 64698961 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	136	34
MROH7-TTC4	100527960	broad.mit.edu	37	1	55144999	55144999	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55144999C>A	ENST00000414150.2	+	12	2391	c.2113C>A	c.(2113-2115)Ctg>Atg	p.L705M	MROH7_ENST00000339553.5_Missense_Mutation_p.L705M|MROH7_ENST00000454855.2_Missense_Mutation_p.L223M|MROH7_ENST00000421030.2_Missense_Mutation_p.L705M|MROH7_ENST00000409996.1_Missense_Mutation_p.L273M|MROH7_ENST00000395690.2_Missense_Mutation_p.L705M|MROH7_ENST00000545244.1_Missense_Mutation_p.L273M					MROH7-TTC4 readthrough (NMD candidate)	NA											NA						CCTGGAAGGGCTGAAAGGCAG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	73	71			NA	NA	1		NA											NA				55144999		1956	4151	6107	SO:0001583	missense					1p32.3	2013-09-25			ENSG00000271723	ENSG00000271723	100527960	100527960			49180	other	readthrough					NA		Standard		NR_037641	NA	Approved				OTTHUMG00000185328	ENST00000414150.2:c.2113C>A	1.37:g.55144999C>A	ENSP00000410192:p.Leu705Met	NA		37		.	.	.	.	.	.	.	.	.	.	C	9.400	1.077749	0.20227	.	.	ENSG00000184313	ENST00000421030;ENST00000545244;ENST00000414867;ENST00000339553;ENST00000409996;ENST00000454855;ENST00000395690	T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17	4.88	1.85	0.25348	.	0.178026	0.26377	N	0.024738	T	0.50888	0.1642	L	0.60455	1.87	0.20821	N	0.999847	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.987;0.995;0.983	T	0.41680	-0.9495	10	0.56958	D	0.05	-9.1048	9.4812	0.38902	0.0:0.7224:0.0:0.2776	.	705;705;273	F8W8P2;Q68CQ1;F5H7R4	.;HEAT8_HUMAN;.	M	705;273;734;705;273;223;705	ENSP00000396622:L705M;ENSP00000442333:L273M;ENSP00000343211:L705M;ENSP00000387048:L273M;ENSP00000401130:L223M;ENSP00000379044:L705M	ENSP00000343211:L705M	L	+	1	2	HEATR8	54917587	0.998000	0.40836	0.332000	0.25469	0.137000	0.21094	0.514000	0.22786	-0.128000	0.11641	-1.151000	0.01829	CTG	MROH7-TTC4-004	KNOWN	basic|appris_candidate_longest|readthrough_transcript	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000470197.1		+	ENST00000414150.2	Missense_Mutation	SNP	1 : 55144999 - 55144999 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	631	31
OLIG3	167826	broad.mit.edu	37	6	137815239	137815239	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137815239C>A	ENST00000367734.2	-	1	292	c.69G>T	c.(67-69)agG>agT	p.R23S		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	23					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		ggtggtggtCCCTCAGGTACA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	55	54			NA	NA	6		NA											NA				137815239		2203	4300	6503	SO:0001583	missense			AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468	167826	167826		Basic helix-loop-helix proteins	18003	protein-coding gene	gene with protein product		609323			NA		Standard	NM_175747	NM_175747	NA	Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.69G>T	6.37:g.137815239C>A	ENSP00000356708:p.Arg23Ser	NA	Q8N8Q0	37	CCDS5186.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.824495	0.32237	.	.	ENSG00000177468	ENST00000367734	D	0.99394	-5.82	5.55	2.91	0.33838	.	0.150750	0.43747	D	0.000533	D	0.90669	0.7073	N	0.04508	-0.205	0.40100	D	0.976369	B	0.22800	0.075	B	0.17098	0.017	D	0.87028	0.2133	10	0.05525	T	0.97	-8.7311	11.6786	0.51444	0.0:0.7315:0.0:0.2685	.	23	Q7RTU3	OLIG3_HUMAN	S	23	ENSP00000356708:R23S	ENSP00000356708:R23S	R	-	3	2	OLIG3	137856932	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	0.372000	0.20467	0.975000	0.38392	0.591000	0.81541	AGG	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042405.1		-	ENST00000367734.2	Missense_Mutation	SNP	6 : 137815239 - 137815239 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	531	102
CUX1	1523	broad.mit.edu	37	7	101916707	101916707	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101916707C>T	ENST00000560541.1	+	0	1914				CUX1_ENST00000393824.3_Silent_p.I403I|CUX1_ENST00000292538.4_Silent_p.I442I|CUX1_ENST00000425244.2_Silent_p.I396I|CUX1_ENST00000547394.2_Silent_p.I426I|CUX1_ENST00000437600.4_Silent_p.I440I			P39880	CUX1_HUMAN	cut-like homeobox 1	NA					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GAGAGCTGATCGCCCGCCTGG	0.637		NA											C	2	9e-04	0.0041	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	9e-04	1	EXOME	NA	NA	3e-04	SNP								NA				0													58	47	51			NA	NA	7		NA											NA				101916707		2203	4300	6503	SO:0001624	3_prime_UTR_variant			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923	1523	1523		Homeoboxes / CUT class	2557	protein-coding gene	gene with protein product	golgi integral membrane protein 6	116896	cut (Drosophila)-like 1 (CCAAT displacement protein), cut-like 1, CCAAT displacement protein (Drosophila)	CUTL1	NA	8468066, 9799793, 15004235	Standard	NM_001913	NM_001202543	NA	Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000560541.1:c.*1911C>T	7.37:g.101916707C>T		NA	Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	37																																																																																				CUX1-019	KNOWN	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000418419.1		+	ENST00000560541.1	3'UTR	SNP	7 : 101916707 - 101916707 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	95	16
EPAS1	2034	broad.mit.edu	37	2	46609140	46609140	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46609140A>G	ENST00000263734.3	+	14	2709	c.2199A>G	c.(2197-2199)tcA>tcG	p.S733S		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	733					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GCAGCACCTCACATTTGATGT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	48	47			NA	NA	2		NA											NA				46609140		2203	4300	6503	SO:0001819	synonymous_variant			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016	2034	2034		Basic helix-loop-helix proteins	3374	protein-coding gene	gene with protein product	HIF-1 alpha-like factor	603349			NA	9000051, 9079689, 18378852	Standard	NM_001430	NM_001430	NA	Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.2199A>G	2.37:g.46609140A>G		NA	Q86VA2|Q99630	37	CCDS1825.1																																																																																			EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250752.2		+	ENST00000263734.3	Silent	SNP	2 : 46609140 - 46609140 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	61
IFI16	3428	broad.mit.edu	37	1	158988314	158988314	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158988314C>T	ENST00000295809.7	+	5	1100	c.845C>T	c.(844-846)gCt>gTt	p.A282V	IFI16_ENST00000368132.3_Missense_Mutation_p.A282V|IFI16_ENST00000368131.4_Missense_Mutation_p.A282V|IFI16_ENST00000448393.2_Missense_Mutation_p.A282V|IFI16_ENST00000340979.6_Missense_Mutation_p.A282V|IFI16_ENST00000430894.2_Missense_Mutation_p.A230V|IFI16_ENST00000359709.3_Missense_Mutation_p.A226V			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	282	HIN-200 1.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					GTATCTGAAGCTGGTCCTAAC	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	66	66			NA	NA	1		NA											NA				158988314		2203	4300	6503	SO:0001583	missense			M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565	3428	3428			5395	protein-coding gene	gene with protein product		147586			NA	1526658, 7959953	Standard	NM_005531	NM_005531	NA	Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.845C>T	1.37:g.158988314C>T	ENSP00000295809:p.Ala282Val	NA	Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	37		.	.	.	.	.	.	.	.	.	.	C	8.937	0.964958	0.18583	.	.	ENSG00000163565	ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74	2.9	-0.208	0.13185	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.03739	0.0106	N	0.25094	0.71	0.09310	N	1	P;P;P	0.46859	0.726;0.477;0.885	B;B;B	0.32980	0.156;0.038;0.156	T	0.32214	-0.9915	8	.	.	.	.	5.1772	0.15141	0.0:0.5616:0.0:0.4384	.	230;282;282	E7EPR3;Q16666-2;Q16666	.;.;IF16_HUMAN	V	282;282;282;282;230	ENSP00000295809:A282V;ENSP00000342741:A282V;ENSP00000357113:A282V;ENSP00000357114:A282V;ENSP00000394935:A230V	.	A	+	2	0	IFI16	157254938	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	-1.061000	0.03472	0.086000	0.17137	0.555000	0.69702	GCT	IFI16-013	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000421720.1		+	ENST00000295809.7	Missense_Mutation	SNP	1 : 158988314 - 158988314 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	335	89
FGFR3	2261	broad.mit.edu	37	4	1807392	1807392	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1807392G>A	ENST00000481110.2	+	12	1905	c.1644G>A	c.(1642-1644)caG>caA	p.Q548Q	FGFR3_ENST00000352904.1_Silent_p.Q435Q|FGFR3_ENST00000412135.2_Silent_p.Q435Q|FGFR3_ENST00000440486.2_Silent_p.Q547Q|FGFR3_ENST00000260795.2_Silent_p.Q547Q|FGFR3_ENST00000340107.4_Silent_p.Q549Q			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	547	Protein kinase.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CCTGCACGCAGGGCGGTAGGT	0.647		1	Mis, T	IGH@, ETV6	bladder, MM, T-cell lymphoma		Hypochondroplasia, Thanatophoric dysplasia		Saethre-Chotzen syndrome;Muenke syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		4	4p16.3	2261	fibroblast growth factor receptor 3	yes	L, E	0													55	51	53			NA	NA	4		NA											NA				1807392		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078	2261	2261		CD molecules, Immunoglobulin superfamily / I-set domain containing	3690	protein-coding gene	gene with protein product		134934	achondroplasia, thanatophoric dwarfism	ACH	NA	1847508	Standard	NM_000142	NM_000142	NA	Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000481110.2:c.1644G>A	4.37:g.1807392G>A		NA	D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	37																																																																																				FGFR3-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000358204.2		+	ENST00000481110.2	Silent	SNP	4 : 1807392 - 1807392 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	383	70
PLCD1	5333	broad.mit.edu	37	3	38050075	38050075	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38050075G>A	ENST00000463876.1	-	12	2192	c.1839C>T	c.(1837-1839)cgC>cgT	p.R613R	PLCD1_ENST00000334661.4_Silent_p.R592R	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	592					intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TGTCCTGGAAGCGGCCCTGGT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	61	59			NA	NA	3		NA											NA				38050075		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	5333	5333	3.1.4.11	EF-hand domain containing	9060	protein-coding gene	gene with protein product		602142			NA	9345909	Standard		NM_001130964	NA	Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000463876.1:c.1839C>T	3.37:g.38050075G>A		NA	Q86VN8	37	CCDS46793.1																																																																																			PLCD1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342510.2		-	ENST00000463876.1	Silent	SNP	3 : 38050075 - 38050075 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	309	48
HS3ST1	9957	broad.mit.edu	37	4	11401429	11401429	+	Silent	SNP	C	C	T	rs148222581		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:11401429C>T	ENST00000002596.5	-	2	1375	c.201G>A	c.(199-201)acG>acA	p.T67T		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	67						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GCAGTGCGCGCGTGCCGCCCT	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4405	2.1+/-5.4	0,1,2202	48	40	43		201	-11	0.8	4	dbSNP_134	43	0,8598		0,0,4299	no	coding-synonymous	HS3ST1	NM_005114.2		0,1,6501	TT,TC,CC	NA	0.0,0.0227,0.0077		67/308	11401429	1,13003	2203	4299	6502	SO:0001819	synonymous_variant			AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	9957	9957	2.8.2.23	Sulfotransferases, membrane-bound	5194	protein-coding gene	gene with protein product		603244			NA	9988767	Standard	NM_005114	NM_005114	NA	Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.201G>A	4.37:g.11401429C>T		NA	B3KUA6|Q6PEY8	37	CCDS3408.1																																																																																			HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207073.3		-	ENST00000002596.5	Silent	SNP	4 : 11401429 - 11401429 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	316	54
KBTBD3	143879	broad.mit.edu	37	11	105924236	105924236	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:105924236T>C	ENST00000526793.1	-	3	1339	c.1180A>G	c.(1180-1182)Acc>Gcc	p.T394A	KBTBD3_ENST00000534815.1_Missense_Mutation_p.T315A|KBTBD3_ENST00000531837.1_Missense_Mutation_p.T394A	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	390										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		GTATGCATGGTTCTTGGTGTT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	84	86			NA	NA	11		NA											NA				105924236		2201	4298	6499	SO:0001583	missense			AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359	143879	143879		BTB/POZ domain containing	22934	protein-coding gene	gene with protein product			BTB and kelch domain containing 3	BKLHD3	NA		Standard	NM_152433	NM_198439	NA	Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.1180A>G	11.37:g.105924236T>C	ENSP00000436262:p.Thr394Ala	NA	Q6N066|Q86X38|Q96NK5	37	CCDS8334.1	.	.	.	.	.	.	.	.	.	.	T	18.29	3.592241	0.66219	.	.	ENSG00000182359	ENST00000534815;ENST00000526793;ENST00000531837	T;T;T	0.76709	-1.04;-1.04;-1.04	5.97	5.97	0.96955	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.81559	0.4848	L	0.31294	0.92	0.58432	D	0.999997	D;P	0.69078	0.997;0.905	D;P	0.69142	0.962;0.642	T	0.81252	-0.1017	10	0.39692	T	0.17	.	16.4383	0.83889	0.0:0.0:0.0:1.0	.	394;390	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	A	315;394;394	ENSP00000431910:T315A;ENSP00000436262:T394A;ENSP00000432163:T394A	ENSP00000436262:T394A	T	-	1	0	KBTBD3	105429446	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.287000	0.76781	0.482000	0.46254	ACC	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388705.2		-	ENST00000526793.1	Missense_Mutation	SNP	11 : 105924236 - 105924236 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	190	35
CYP26A1	1592	broad.mit.edu	37	10	94834670	94834670	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:94834670C>T	ENST00000371531.1	+	3	720	c.342C>T	c.(340-342)cgC>cgT	p.R114R	CYP26A1_ENST00000224356.4_Silent_p.R183R|CYP26A1_ENST00000394139.1_Silent_p.R114R	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	183					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				AGGTGAAGCGCCTCATGTTCC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	49	47			NA	NA	10		NA											NA				94834670		2203	4300	6503	SO:0001819	synonymous_variant			AF005418	CCDS7426.1, CCDS7427.1	10q23-q24	2003-10-06	2003-01-14		ENSG00000095596	ENSG00000095596	NA	1592		Cytochrome P450s	2603	protein-coding gene	gene with protein product		602239	cytochrome P450, subfamily XXVIA, polypeptide 1		NA	9228017, 9521883	Standard		NM_000783	NA	Approved	P450RAI, CP26, CYP26, P450RAI1	uc001kil.2	O43174	OTTHUMG00000018765	ENST00000371531.1:c.342C>T	10.37:g.94834670C>T		NA	Q5VXI0	37	CCDS7427.1																																																																																			CYP26A1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049407.1		+	ENST00000371531.1	Silent	SNP	10 : 94834670 - 94834670 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	565	102
PRX	57716	broad.mit.edu	37	19	40902860	40902860	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40902860C>A	ENST00000324001.7	-	7	1669	c.1399G>T	c.(1399-1401)Gag>Tag	p.E467*	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	467	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGCTCCACCTCTGGGAGTCGA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	89	85			NA	NA	19		NA											NA				40902860		2203	4300	6503	SO:0001587	stop_gained			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227	57716	57716			13797	protein-coding gene	gene with protein product		605725			NA	10839370, 9143514	Standard	NM_020956	NM_181882	NA	Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1399G>T	19.37:g.40902860C>A	ENSP00000326018:p.Glu467*	NA	Q9BXL9|Q9HCF2	37	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699520	0.88830	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	.	.	.	4.14	3.08	0.35506	.	0.000000	0.46758	D	0.000278	.	.	.	.	.	.	0.25965	N	0.982578	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-23.9548	7.2074	0.25915	0.0:0.7304:0.1748:0.0948	.	.	.	.	X	467	.	ENSP00000326018:E467X	E	-	1	0	PRX	45594700	0.001000	0.12720	0.098000	0.21074	0.334000	0.28698	0.561000	0.23515	1.089000	0.41292	0.462000	0.41574	GAG	PRX-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462582.1		-	ENST00000324001.7	Nonsense_Mutation	SNP	19 : 40902860 - 40902860 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1060	214
NYNRIN	57523	broad.mit.edu	37	14	24877090	24877090	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24877090C>A	ENST00000382554.3	+	3	532	c.214C>A	c.(214-216)Ctg>Atg	p.L72M		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	72					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCTGAAGGGCCTGTGCAGCCC	0.627		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	14		NA											NA				24877090		2031	4192	6223	SO:0001583	missense			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978	57523	57523			20165	protein-coding gene	gene with protein product	Cousin of GIN1		KIAA1305	KIAA1305	NA	19561090, 17114934	Standard		NM_025081	NA	Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.214C>A	14.37:g.24877090C>A	ENSP00000371994:p.Leu72Met	NA	Q6P153|Q86TR3|Q9HAC4	37	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042273	0.55003	.	.	ENSG00000205978	ENST00000382554	T	0.22539	1.95	4.46	4.46	0.54185	.	0.185553	0.23343	U	0.049219	T	0.45357	0.1338	M	0.72894	2.215	0.26018	N	0.981903	D	0.76494	0.999	D	0.75484	0.986	T	0.31668	-0.9935	10	0.87932	D	0	.	14.6529	0.68811	0.0:1.0:0.0:0.0	.	72	Q9P2P1	NYNRI_HUMAN	M	72	ENSP00000371994:L72M	ENSP00000371994:L72M	L	+	1	2	NYNRIN	23946930	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.082000	0.57635	2.306000	0.77630	0.563000	0.77884	CTG	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412939.1		+	ENST00000382554.3	Missense_Mutation	SNP	14 : 24877090 - 24877090 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	558	113
KRT16	3868	broad.mit.edu	37	17	39768755	39768755	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39768755G>A	ENST00000301653.4	-	1	250	c.186C>T	c.(184-186)tgC>tgT	p.C62C		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	62	Head.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				CCCCCAGCCCGCAGGCTCCCC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	35	32			NA	NA	17		NA											NA				39768755		2179	4266	6445	SO:0001819	synonymous_variant			S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832	3868	3868		-, Intermediate filaments type I, keratins (acidic)	6423	protein-coding gene	gene with protein product	focal non-epidermolytic palmoplantar keratoderma	148067			NA	2451124, 16831889	Standard	NM_005557	NM_005557	NA	Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.186C>T	17.37:g.39768755G>A		NA	A8K488|P30654|Q16402|Q9UBG8	37	CCDS11401.1																																																																																			KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257408.1		-	ENST00000301653.4	Silent	SNP	17 : 39768755 - 39768755 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	115	15
ANO2	57101	broad.mit.edu	37	12	5941725	5941725	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:5941725G>A	ENST00000356134.5	-	6	740	c.669C>T	c.(667-669)agC>agT	p.S223S	ANO2_ENST00000546188.1_Silent_p.S223S|ANO2_ENST00000327087.8_Silent_p.S222S	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	227						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GCAGAGCCGCGCTGAACTTCT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	92	92			NA	NA	12		NA											NA				5941725		2085	4227	6312	SO:0001819	synonymous_variant			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617	57101	57101		Ion channels / Chloride channels : Calcium activated : Anoctamins	1183	protein-coding gene	gene with protein product	transmembrane protein 16B (eight membrane-spanning domains)	610109	chromosome 12 open reading frame 3, transmembrane protein 16B, anoctamin 2	C12orf3, TMEM16B	NA	12739008, 15067359, 24692353	Standard	NM_020373	NM_001278596	NA	Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.669C>T	12.37:g.5941725G>A		NA	C4N787|Q9H847	37																																																																																				ANO2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000399019.4		-	ENST00000356134.5	Silent	SNP	12 : 5941725 - 5941725 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	219	48
PDE5A	8654	broad.mit.edu	37	4	120463721	120463721	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120463721C>T	ENST00000354960.3	-	10	1784	c.1465G>A	c.(1465-1467)Gaa>Aaa	p.E489K	RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000394439.1_Missense_Mutation_p.E437K|PDE5A_ENST00000512739.1_5'UTR|PDE5A_ENST00000264805.5_Missense_Mutation_p.E447K	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	489	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	AGAAACTGTTCGTCATTTCGG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	129	131			NA	NA	4		NA											NA				120463721		2203	4300	6503	SO:0001583	missense			D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	8654	8654	3.1.4.17	Phosphodiesterases	8784	protein-coding gene	gene with protein product		603310			NA	9714779, 9642111	Standard	NM_001083	NM_033437	NA	Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1465G>A	4.37:g.120463721C>T	ENSP00000347046:p.Glu489Lys	NA	A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	37	CCDS3713.1	.	.	.	.	.	.	.	.	.	.	C	35	5.454552	0.96223	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	T;T;T	0.68624	-0.34;-0.34;-0.34	5.37	5.37	0.77165	GAF (2);	0.050029	0.85682	N	0.000000	D	0.83326	0.5230	M	0.89095	3.005	0.80722	D	1	P;D	0.69078	0.949;0.997	P;P	0.59643	0.529;0.861	D	0.85834	0.1393	10	0.59425	D	0.04	.	19.4801	0.95007	0.0:1.0:0.0:0.0	.	489;447	O76074;O76074-2	PDE5A_HUMAN;.	K	489;437;447	ENSP00000347046:E489K;ENSP00000377957:E437K;ENSP00000264805:E447K	ENSP00000264805:E447K	E	-	1	0	PDE5A	120683169	1.000000	0.71417	0.905000	0.35620	0.991000	0.79684	7.758000	0.85224	2.698000	0.92095	0.650000	0.86243	GAA	PDE5A-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256529.1		-	ENST00000354960.3	Missense_Mutation	SNP	4 : 120463721 - 120463721 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	23
TAZ	6901	broad.mit.edu	37	X	153641878	153641878	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153641878T>G	ENST00000299328.5	+	4	633	c.344T>G	c.(343-345)tTg>tGg	p.L115W	TAZ_ENST00000369776.4_Missense_Mutation_p.L90W|TAZ_ENST00000475699.1_Missense_Mutation_p.L115W|TAZ_ENST00000369790.4_Missense_Mutation_p.L115W|TAZ_ENST00000351413.4_Missense_Mutation_p.L115W|TAZ_ENST00000350743.4_Missense_Mutation_p.L115W	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN	tafazzin	115					cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTCTTCAGCTTGGGCAAGTGT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	86	96			NA	NA	X		NA											NA				153641878		2203	4300	6503	SO:0001583	missense			X92762	CCDS14748.1, CCDS14749.1, CCDS14750.1, CCDS35450.1	Xq28	2014-09-17	2008-07-29		ENSG00000102125	ENSG00000102125	6901	6901			11577	protein-coding gene	gene with protein product	Barth syndrome	300394	endocardial fibroelastosis 2, cardiomyopathy, dilated 3A (X-linked)	CMD3A, EFE2, EFE	NA	8042670	Standard		NM_000116	NA	Approved	BTHS, XAP-2, G4.5	uc004fkx.3	Q16635	OTTHUMG00000033190	ENST00000299328.5:c.344T>G	X.37:g.153641878T>G	ENSP00000299328:p.Leu115Trp	NA	A3KQT2|D3DWX2|Q5HY43|Q5HY44|Q5HY45|Q5HY48|Q86XQ6|Q86XQ7|Q86XQ8|Q86XQ9|Q86XR0	37	CCDS14748.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.109567	0.77096	.	.	ENSG00000102125	ENST00000369790;ENST00000426834;ENST00000299328;ENST00000350743;ENST00000454722;ENST00000351413;ENST00000369776;ENST00000439735;ENST00000475699	D;D;D;D;D;D;D;D;D	0.97665	-4.48;-4.48;-4.48;-4.48;-4.48;-4.48;-4.48;-4.48;-4.48	5.8	5.8	0.92144	Phospholipid/glycerol acyltransferase (2);	0.077823	0.51477	D	0.000095	D	0.97532	0.9192	L	0.52206	1.635	0.41950	D	0.990653	D;D;D;D;P;D	0.89917	1.0;1.0;1.0;1.0;0.844;1.0	D;D;D;D;P;D	0.91635	0.997;0.999;0.995;0.997;0.645;0.999	D	0.97903	1.0304	10	0.51188	T	0.08	-0.0443	12.9201	0.58226	0.0:0.0:0.0:1.0	.	133;90;115;115;115;115	A6XNE1;Q96F92;Q16635-7;Q16635-3;Q16635-5;Q16635	.;.;.;.;.;TAZ_HUMAN	W	115;133;115;115;133;115;90;115;115	ENSP00000358805:L115W;ENSP00000411182:L133W;ENSP00000299328:L115W;ENSP00000338891:L115W;ENSP00000397388:L133W;ENSP00000218246:L115W;ENSP00000358791:L90W;ENSP00000398193:L115W;ENSP00000419854:L115W	ENSP00000299328:L115W	L	+	2	0	TAZ	153295072	1.000000	0.71417	0.983000	0.44433	0.996000	0.88848	5.795000	0.69074	1.959000	0.56917	0.478000	0.44815	TTG	TAZ-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080938.4		+	ENST00000299328.5	Missense_Mutation	SNP	X : 153641878 - 153641878 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	319	68
FNIP1	96459	broad.mit.edu	37	5	131080272	131080272	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131080272C>A	ENST00000307954.8	-	2	232	c.204G>T	c.(202-204)gaG>gaT	p.E68D	FNIP1_ENST00000307968.7_Missense_Mutation_p.E68D|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.E68D|FNIP1_ENST00000510461.1_Missense_Mutation_p.E68D|FNIP1_ENST00000511848.1_Missense_Mutation_p.E68D					folliculin interacting protein 1	NA										NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		CTGATATGTCCTCATTTCTTC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	144	149			NA	NA	5		NA											NA				131080272		2203	4300	6503	SO:0001583	missense			DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128	96459	96459			29418	protein-coding gene	gene with protein product		610594			NA	11853319, 17028174	Standard	NM_133372	NM_001008738	NA	Approved	KIAA1961		Q8TF40		ENST00000307954.8:c.204G>T	5.37:g.131080272C>A	ENSP00000310453:p.Glu68Asp	NA		37		.	.	.	.	.	.	.	.	.	.	C	12.85	2.062649	0.36373	.	.	ENSG00000217128	ENST00000514667;ENST00000307968;ENST00000307954;ENST00000510461;ENST00000511848	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.88	1.64	0.23874	.	.	.	.	.	T	0.16300	0.0392	N	0.03948	-0.315	0.43819	D	0.99638	B;B;B;B;B	0.30563	0.096;0.011;0.037;0.285;0.0	B;B;B;B;B	0.28553	0.038;0.016;0.024;0.091;0.0	T	0.05683	-1.0870	9	0.21540	T	0.41	-8.4916	6.2545	0.20865	0.1222:0.5277:0.0:0.3501	.	68;68;68;68;68	A8K8V8;Q8TF40-2;Q8TF40-3;Q8TF40;E9PCH4	.;.;.;FNIP1_HUMAN;.	D	68	ENSP00000426948:E68D;ENSP00000309266:E68D;ENSP00000310453:E68D;ENSP00000421985:E68D;ENSP00000425619:E68D	ENSP00000310453:E68D	E	-	3	2	FNIP1	131108171	0.571000	0.26659	1.000000	0.80357	0.986000	0.74619	-0.326000	0.07965	0.396000	0.25283	0.655000	0.94253	GAG	FNIP1-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000370078.1		-	ENST00000307954.8	Missense_Mutation	SNP	5 : 131080272 - 131080272 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	511	92
JAKMIP2	9832	broad.mit.edu	37	5	147024484	147024484	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147024484C>T	ENST00000265272.5	-	6	1479	c.1012G>A	c.(1012-1014)Gat>Aat	p.D338N	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.D338N|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.D296N	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	338						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCAGTTCATCGTTTCTCTTG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													207	198	201			NA	NA	5		NA											NA				147024484		2203	4300	6503	SO:0001583	missense			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049	9832	9832			29067	protein-coding gene	gene with protein product		611197			NA	9628581	Standard	NM_014790	NM_001270941	NA	Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.1012G>A	5.37:g.147024484C>T	ENSP00000265272:p.Asp338Asn	NA	A4ZZA7|A8K5G5|O60302|Q548S1	37	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	C	35	5.436271	0.96168	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	D;D;D	0.82711	-1.64;-1.64;-1.64	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.90542	0.7036	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.74023	0.982;0.982;0.982;0.982	D	0.90640	0.4574	10	0.66056	D	0.02	.	19.7589	0.96306	0.0:1.0:0.0:0.0	.	296;338;338;338	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	N	338;338;296;338	ENSP00000421398:D338N;ENSP00000265272:D338N;ENSP00000328989:D296N	ENSP00000265272:D338N	D	-	1	0	JAKMIP2	147004677	1.000000	0.71417	0.967000	0.41034	0.951000	0.60555	7.412000	0.80091	2.746000	0.94184	0.591000	0.81541	GAT	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251941.1		-	ENST00000265272.5	Missense_Mutation	SNP	5 : 147024484 - 147024484 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	702	142
PCDHB5	26167	broad.mit.edu	37	5	140515588	140515588	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140515588A>G	ENST00000231134.5	+	1	789	c.572A>G	c.(571-573)tAc>tGc	p.Y191C		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	191	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCAGAAAATACCCAGAGCTG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	74	74			NA	NA	5		NA											NA				140515588		2203	4300	6503	SO:0001583	missense			AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209	26167	26167		Cadherins / Protocadherins : Clustered	8690	other	protocadherin		606331			NA	10380929	Standard	NM_015669	NM_015669	NA	Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.572A>G	5.37:g.140515588A>G	ENSP00000231134:p.Tyr191Cys	NA	Q549F4|Q9UFU9	37	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.813791	0.50527	.	.	ENSG00000113209	ENST00000231134	T	0.20598	2.06	5.18	3.93	0.45458	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.55433	0.1920	H	0.95114	3.625	0.25307	N	0.989237	D	0.71674	0.998	D	0.72075	0.976	T	0.53208	-0.8471	9	0.87932	D	0	.	9.4626	0.38794	0.7278:0.0:0.0:0.2722	.	191	Q9Y5E4	PCDB5_HUMAN	C	191	ENSP00000231134:Y191C	ENSP00000231134:Y191C	Y	+	2	0	PCDHB5	140495772	0.000000	0.05858	1.000000	0.80357	0.927000	0.56198	-0.136000	0.10405	2.086000	0.62901	0.454000	0.30748	TAC	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251811.1		+	ENST00000231134.5	Missense_Mutation	SNP	5 : 140515588 - 140515588 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	579	102
SCN5A	6331	broad.mit.edu	37	3	38647544	38647544	+	Silent	SNP	G	G	A	rs45565936		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38647544G>A	ENST00000455624.2	-	9	1260	c.1236C>T	c.(1234-1236)gtC>gtT	p.V412V	SCN5A_ENST00000450102.2_Silent_p.V412V|SCN5A_ENST00000451551.2_Silent_p.V412V|SCN5A_ENST00000413689.1_Silent_p.V412V|SCN5A_ENST00000425664.1_Silent_p.V412V|SCN5A_ENST00000423572.2_Silent_p.V412V|SCN5A_ENST00000414099.2_Silent_p.V412V|SCN5A_ENST00000443581.1_Silent_p.V412V|SCN5A_ENST00000333535.4_Silent_p.V412V|SCN5A_ENST00000449557.2_Silent_p.V412V			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	412					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AGGCCATTGCGACCACGGCCA	0.542		NA											G	3	0.0014	0.01	NA	2184	NA	0.9998	,	,	NA	3e-04	NA	NA	NA	0.0015	0.942	EXOME	NA	NA	2e-04	SNP								NA				0								G	,,,,,	25,4115		0,25,2045	80	84	83		1236,1236,1236,1236,1236,1236	-6.6	0.9	3	dbSNP_127	83	0,8412		0,0,4206	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SCN5A	NM_000335.4,NM_001099404.1,NM_001099405.1,NM_001160160.1,NM_001160161.1,NM_198056.2	,,,,,	0,25,6251	AA,AG,GG	NA	0.0,0.6039,0.1992	,,,,,	412/2016,412/2017,412/1999,412/1984,412/1963,412/2017	38647544	25,12527	2070	4206	6276	SO:0001819	synonymous_variant			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873	6331	6331		Sodium channels, Voltage-gated ion channels / Sodium channels	10593	protein-coding gene	gene with protein product	long QT syndrome 3	600163	sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	CMD1E	NA	7842012, 15466643, 16382098	Standard	NM_198056	NM_198056	NA	Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000455624.2:c.1236C>T	3.37:g.38647544G>A		NA	A5H1P8|A6N922|A6N923|B2RTU0|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	37	CCDS54570.1																																																																																			SCN5A-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343215.2		-	ENST00000455624.2	Silent	SNP	3 : 38647544 - 38647544 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	86
MINK1	50488	broad.mit.edu	37	17	4798398	4798398	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4798398C>T	ENST00000355280.6	+	25	3142	c.2946C>T	c.(2944-2946)ctC>ctT	p.L982L	MINK1_ENST00000453408.3_Silent_p.L962L|MINK1_ENST00000347992.7_Silent_p.L953L	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	982	Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GCACTCGGCTCGACCAGCTGC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													404	373	383			NA	NA	17		NA											NA				4798398		2034	4178	6212	SO:0001819	synonymous_variant			AY775058	CCDS45588.1, CCDS45589.1, CCDS45590.1	17p13.2	2011-04-14	2010-06-24		ENSG00000141503	ENSG00000141503	50488	50488			17565	protein-coding gene	gene with protein product	misshapen/NIK-related kinase	609426	misshapen-like kinase 1 (zebrafish)		NA	10708748, 12087176	Standard	NM_015716	NM_015716	NA	Approved	B55, MINK, ZC3, MAP4K6, YSK2	uc010vsl.2	Q8N4C8		ENST00000355280.6:c.2946C>T	17.37:g.4798398C>T		NA	D3DTK3|D3DTK4|Q9P1X1|Q9P2R8	37	CCDS45588.1																																																																																			MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000439801.1		+	ENST00000355280.6	Silent	SNP	17 : 4798398 - 4798398 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	244	42
CUL4B	8450	broad.mit.edu	37	X	119668403	119668403	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119668403C>T	ENST00000371322.5	-	17	2260	c.2199G>A	c.(2197-2199)ctG>ctA	p.L733L	CUL4B_ENST00000336592.6_Silent_p.L738L|CUL4B_ENST00000404115.3_Silent_p.L751L	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	751					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTAGCAGCACCAGTGTTTGAA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	151	154			NA	NA	X		NA											NA				119668403		2203	4300	6503	SO:0001819	synonymous_variant			U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290	8450	8450			2555	protein-coding gene	gene with protein product		300304			NA	8681378	Standard	NM_003588	NM_003588	NA	Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000371322.5:c.2199G>A	X.37:g.119668403C>T		NA	B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	37	CCDS43987.1																																																																																			CUL4B-003	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058105.1		-	ENST00000371322.5	Silent	SNP	X : 119668403 - 119668403 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	626	142
CEACAM21	90273	broad.mit.edu	37	19	42083774	42083774	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42083774G>T	ENST00000187608.9	+	2	327	c.287G>T	c.(286-288)aGc>aTc	p.S96I	CEACAM21_ENST00000401445.2_Missense_Mutation_p.S96I|CEACAM21_ENST00000407170.2_5'UTR|CEACAM21_ENST00000482870.2_3'UTR	NM_001098506.1|NM_033543.3	NP_001091976.1|NP_291021	Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	96						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						CCTGCATACAGCGGTCGAGAG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	107	106			NA	NA	19		NA											NA				42083774		2181	4293	6474	SO:0001583	missense			AK023602	CCDS46086.1, CCDS46087.1, CCDS74373.1	19q13.2	2013-01-29			ENSG00000007129	ENSG00000007129	90273	90273		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	28834	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_033543	XM_005278397	NA	Approved	R29124_1, FLJ13540	uc002ore.4	Q3KPI0	OTTHUMG00000151062	ENST00000187608.9:c.287G>T	19.37:g.42083774G>T	ENSP00000187608:p.Ser96Ile	NA	B7WNQ6|O75296|Q6UY47|Q96ER7	37	CCDS46087.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.936009	0.34189	.	.	ENSG00000007129	ENST00000187608;ENST00000401445	T;T	0.69806	-0.43;-0.43	1.84	-0.702	0.11265	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83478	0.5263	H	0.96889	3.9	0.09310	N	0.999999	D;D	0.76494	0.999;0.999	D;D	0.76575	0.979;0.988	T	0.69562	-0.5112	9	0.87932	D	0	.	3.1705	0.06550	0.1868:0.2804:0.5328:0.0	.	96;96	Q3KPI0-2;Q3KPI0	.;CEA21_HUMAN	I	96	ENSP00000187608:S96I;ENSP00000385739:S96I	ENSP00000187608:S96I	S	+	2	0	CEACAM21	46775614	0.000000	0.05858	0.000000	0.03702	0.551000	0.35334	-0.462000	0.06704	-0.054000	0.13266	0.123000	0.15791	AGC	CEACAM21-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321139.2		+	ENST00000187608.9	Missense_Mutation	SNP	19 : 42083774 - 42083774 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	342	48
SV2C	22987	broad.mit.edu	37	5	75428107	75428107	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75428107A>G	ENST00000502798.2	+	2	974	c.532A>G	c.(532-534)Agt>Ggt	p.S178G	SV2C_ENST00000322285.7_Missense_Mutation_p.S178G	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	178					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CGTGTTACCCAGTGCTGAGAC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	151	154			NA	NA	5		NA											NA				75428107		2068	4205	6273	SO:0001583	missense			AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012	22987	22987			30670	protein-coding gene	gene with protein product		610291			NA	10470851, 9801366	Standard		XM_005248470	NA	Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.532A>G	5.37:g.75428107A>G	ENSP00000423541:p.Ser178Gly	NA	Q496K1|Q9UPU8	37	CCDS43331.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.979483	0.74360	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	T;T	0.47528	0.84;0.84	5.65	4.47	0.54385	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.67748	0.2926	M	0.78223	2.4	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.71441	-0.4592	10	0.87932	D	0	-11.3857	12.8594	0.57906	0.8636:0.1364:0.0:0.0	.	178	Q496J9	SV2C_HUMAN	G	178	ENSP00000423541:S178G;ENSP00000316983:S178G	ENSP00000316983:S178G	S	+	1	0	SV2C	75463863	1.000000	0.71417	0.997000	0.53966	0.929000	0.56500	9.339000	0.96797	0.962000	0.38057	-0.313000	0.08912	AGT	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368700.4		+	ENST00000502798.2	Missense_Mutation	SNP	5 : 75428107 - 75428107 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	498	83
UBR3	130507	broad.mit.edu	37	2	170917646	170917646	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170917646C>T	ENST00000272793.5	+	34	4893	c.4843C>T	c.(4843-4845)Cta>Tta	p.L1615L	UBR3_ENST00000392631.1_Silent_p.L436L|UBR3_ENST00000418381.1_Silent_p.L1615L			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1615					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						GATAAGTGAACTATTTAAAGG	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	84	83			NA	NA	2		NA											NA				170917646		2203	4298	6501	SO:0001819	synonymous_variant			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357	130507	130507		Ubiquitin protein ligase E3 component n-recognins	30467	protein-coding gene	gene with protein product		613831	zinc finger protein 650	ZNF650	NA	17462990	Standard	NM_172070	NM_172070	NA	Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.4843C>T	2.37:g.170917646C>T		NA	B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	37																																																																																				UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000255290.2		+	ENST00000272793.5	Silent	SNP	2 : 170917646 - 170917646 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	463	54
ARFGEF1	10565	broad.mit.edu	37	8	68183949	68183949	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68183949C>A	ENST00000262215.3	-	10	1949	c.1560G>T	c.(1558-1560)aaG>aaT	p.K520N		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	520					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CAATTTGCATCTTCAGATGTG	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	47	47			NA	NA	8		NA											NA				68183949		2203	4299	6502	SO:0001583	missense			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777	10565	10565			15772	protein-coding gene	gene with protein product		604141			NA	10212200, 8917509	Standard	NM_006421	NM_006421	NA	Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.1560G>T	8.37:g.68183949C>A	ENSP00000262215:p.Lys520Asn	NA	Q9NV46|Q9UFV2|Q9UNL0	37	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	c	18.87	3.715340	0.68844	.	.	ENSG00000066777	ENST00000262215	T	0.64618	-0.11	5.44	4.56	0.56223	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83031	0.5166	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85646	0.1279	10	0.66056	D	0.02	.	8.3321	0.32193	0.0:0.7776:0.0:0.2224	.	520	Q9Y6D6	BIG1_HUMAN	N	520	ENSP00000262215:K520N	ENSP00000262215:K520N	K	-	3	2	ARFGEF1	68346503	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.531000	0.36018	2.545000	0.85829	0.585000	0.79938	AAG	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379441.4		-	ENST00000262215.3	Missense_Mutation	SNP	8 : 68183949 - 68183949 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	174	33
SLC44A4	80736	broad.mit.edu	37	6	31832662	31832662	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31832662G>A	ENST00000229729.6	-	19	1877	c.1857C>T	c.(1855-1857)tcC>tcT	p.S619S	SLC44A4_ENST00000375562.4_Silent_p.S577S|SLC44A4_ENST00000544672.1_Silent_p.S543S	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	619						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GGATGCGACCGGAGAAAAAAA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	41	38			NA	NA	6		NA											NA				31832662		2203	4300	6503	SO:0001819	synonymous_variant			AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385	80736	80736		Solute carriers	13941	protein-coding gene	gene with protein product		606107	chromosome 6 open reading frame 29	C6orf29	NA	10677542, 15715662, 24379411	Standard		NM_025257	NA	Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.1857C>T	6.37:g.31832662G>A		NA	A2BED3|B0UXX8|B0UZY8|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	37	CCDS4724.2																																																																																			SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076234.3		-	ENST00000229729.6	Silent	SNP	6 : 31832662 - 31832662 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	206	40
PXDN	7837	broad.mit.edu	37	2	1687462	1687462	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1687462C>A	ENST00000252804.4	-	6	576	c.526G>T	c.(526-528)Ggg>Tgg	p.G176W		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	176					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TTAAATGTCCCTGGAACTAAA	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	46	46			NA	NA	2		NA											NA				1687462		1795	4061	5856	SO:0001583	missense			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508	7837	7837		Immunoglobulin superfamily / I-set domain containing	14966	protein-coding gene	gene with protein product		605158			NA	10441517, 9039502	Standard	XM_056455	XM_005264707	NA	Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.526G>T	2.37:g.1687462C>A	ENSP00000252804:p.Gly176Trp	NA	A8QM65|D6W4Y0|Q4KMG2	37	CCDS46221.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	18.82|18.82|18.82	3.706140|3.706140|3.706140	0.68615|0.68615|0.68615	.|.|.	.|.|.	ENSG00000130508|ENSG00000130508|ENSG00000130508	ENST00000252804;ENST00000425171|ENST00000433670|ENST00000447941	T;T|.|.	0.55413|.|.	0.52;0.92|.|.	5.43|5.43|5.43	5.43|5.43|5.43	0.79202|0.79202|0.79202	.|.|.	0.057139|.|.	0.64402|.|.	D|.|.	0.000001|.|.	D|D|D	0.83792|0.83792|0.83792	0.5331|0.5331|0.5331	M|M|M	0.87269|0.87269|0.87269	2.87|2.87|2.87	0.58432|0.58432|0.58432	D|D|D	0.999996|0.999996|0.999996	D;D|.|.	0.89917|.|.	1.0;1.0|.|.	D;D|.|.	0.97110|.|.	0.999;1.0|.|.	D|D|D	0.85695|0.85695|0.85695	0.1309|0.1309|0.1309	10|5|5	0.87932|.|.	D|.|.	0|.|.	-32.4813|-32.4813|-32.4813	19.2505|19.2505|19.2505	0.93923|0.93923|0.93923	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	176;176|.|.	Q92626-2;Q92626|.|.	.;PXDN_HUMAN|.|.	W|H|M	176;152|171|99	ENSP00000252804:G176W;ENSP00000398363:G152W|.|.	ENSP00000252804:G176W|.|.	G|Q|R	-|-|-	1|3|2	0|2|0	PXDN|PXDN|PXDN	1666469|1666469|1666469	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.428000|0.428000|0.428000	0.26697|0.26697|0.26697	0.491000|0.491000|0.491000	0.33493|0.33493|0.33493	7.505000|7.505000|7.505000	0.81655|0.81655|0.81655	2.542000|2.542000|2.542000	0.85734|0.85734|0.85734	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GGG|CAG|AGG	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322505.1		-	ENST00000252804.4	Missense_Mutation	SNP	2 : 1687462 - 1687462 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	75	13
FBL	2091	broad.mit.edu	37	19	40327287	40327287	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40327287G>T	ENST00000221801.3	-	7	817	c.704C>A	c.(703-705)gCt>gAt	p.A235D	FBL_ENST00000593503.1_5'UTR	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	235					rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		GGCCACATCAGCAAAGATCAC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	88	94			NA	NA	19		NA											NA				40327287		2203	4300	6503	SO:0001583	missense			AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202	2091	2091			3599	protein-coding gene	gene with protein product		134795			NA	1846968, 2026646	Standard	NM_001436	NM_001436	NA	Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.704C>A	19.37:g.40327287G>T	ENSP00000221801:p.Ala235Asp	NA	B5BUE8|O75259|Q6IAT5|Q9UPI6	37	CCDS12545.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605171	0.87157	.	.	ENSG00000105202	ENST00000221801	.	.	.	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.86176	0.5870	H	0.95294	3.65	0.80722	D	1	D;D	0.71674	0.993;0.998	D;D	0.69479	0.919;0.964	D	0.90595	0.4540	9	0.87932	D	0	-10.8703	15.0249	0.71663	0.0:0.0:1.0:0.0	.	174;235	Q96BS4;P22087	.;FBRL_HUMAN	D	235	.	ENSP00000221801:A235D	A	-	2	0	FBL	45019127	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	9.416000	0.97383	2.123000	0.65237	0.655000	0.94253	GCT	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462509.4		-	ENST00000221801.3	Missense_Mutation	SNP	19 : 40327287 - 40327287 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	301	66
WDR11	55717	broad.mit.edu	37	10	122630757	122630757	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:122630757C>T	ENST00000263461.6	+	10	1616	c.1370C>T	c.(1369-1371)aCg>aTg	p.T457M		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	457						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TTCCTGCTGACGGGACTGCTT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	95	100			NA	NA	10		NA											NA				122630757		2203	4300	6503	SO:0001583	missense			AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008	55717	55717		WD repeat domain containing	13831	protein-coding gene	gene with protein product		606417	bromodomain and WD repeat domain containing 2	BRWD2	NA	10718198, 11536051	Standard		NM_018117	NA	Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.1370C>T	10.37:g.122630757C>T	ENSP00000263461:p.Thr457Met	NA	Q5VWA1|Q9P2J6	37	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.242164	0.22796	.	.	ENSG00000120008	ENST00000263461	D	0.91631	-2.88	5.29	5.29	0.74685	.	0.149594	0.64402	D	0.000016	D	0.89157	0.6635	L	0.54323	1.7	0.42261	D	0.992011	P;P	0.47910	0.902;0.902	B;B	0.38458	0.274;0.274	D	0.90896	0.4765	10	0.87932	D	0	-15.858	14.2591	0.66073	0.0:0.9264:0.0:0.0736	.	457;457	Q9BZH6;B2RCJ6	WDR11_HUMAN;.	M	457	ENSP00000263461:T457M	ENSP00000263461:T457M	T	+	2	0	WDR11	122620747	0.999000	0.42202	0.069000	0.20011	0.070000	0.16714	4.530000	0.60595	2.468000	0.83385	0.591000	0.81541	ACG	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050707.2		+	ENST00000263461.6	Missense_Mutation	SNP	10 : 122630757 - 122630757 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	397	88
HERC1	8925	broad.mit.edu	37	15	64025296	64025296	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64025296C>T	ENST00000443617.2	-	14	2782	c.2695G>A	c.(2695-2697)Gta>Ata	p.V899I		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	899					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGGGAGGCTACGTGGGTATGA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	151	152			NA	NA	15		NA											NA				64025296		1967	4156	6123	SO:0001583	missense			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657	8925	8925		WD repeat domain containing	4867	protein-coding gene	gene with protein product		605109	hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1		NA	8861955, 9233772	Standard	NM_003922	NM_003922	NA	Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.2695G>A	15.37:g.64025296C>T	ENSP00000390158:p.Val899Ile	NA	Q8IW65	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.458896	0.63401	.	.	ENSG00000103657	ENST00000443617	T	0.24538	1.85	5.67	5.67	0.87782	.	0.000000	0.64402	U	0.000006	T	0.36880	0.0983	N	0.20685	0.6	0.80722	D	1	D	0.69078	0.997	D	0.68621	0.959	T	0.07908	-1.0748	10	0.29301	T	0.29	.	19.7607	0.96316	0.0:1.0:0.0:0.0	.	899	Q15751	HERC1_HUMAN	I	899	ENSP00000390158:V899I	ENSP00000390158:V899I	V	-	1	0	HERC1	61812349	1.000000	0.71417	0.916000	0.36221	0.951000	0.60555	7.709000	0.84645	2.658000	0.90341	0.655000	0.94253	GTA	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418523.1		-	ENST00000443617.2	Missense_Mutation	SNP	15 : 64025296 - 64025296 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	612	106
CTNS	1497	broad.mit.edu	37	17	3559853	3559853	+	Silent	SNP	C	C	T	rs113967200	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3559853C>T	ENST00000381870.3	+	8	993	c.534C>T	c.(532-534)atC>atT	p.I178I	CTNS_ENST00000441220.2_Silent_p.I70I|CTNS_ENST00000046640.3_Silent_p.I178I|CTNS_ENST00000414524.2_Silent_p.I31I|RP11-235E17.6_ENST00000575741.1_RNA	NM_001031681.2	NP_001026851.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	178	PQ-loop 1.				ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	TATTCAACATCGGCCTCCTCT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	5,4399	11.4+/-27.6	0,5,2197	150	109	123		534,534	-5.2	0.9	17	dbSNP_132	123	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CTNS	NM_001031681.2,NM_004937.2	,	0,5,6497	TT,TC,CC	NA	0.0,0.1135,0.0384	,	178/401,178/368	3559853	5,12999	2202	4300	6502	SO:0001819	synonymous_variant			AJ222967	CCDS11031.1, CCDS32530.1	17p13	2011-06-07	2011-06-07		ENSG00000040531	ENSG00000040531	1497	1497			2518	protein-coding gene	gene with protein product		606272	cystinosis, nephropathic		NA	9537412, 15128704	Standard	NM_004937	NM_004937	NA	Approved	CTNS-LSB, PQLC4	uc002fwa.3	O60931	OTTHUMG00000090693	ENST00000381870.3:c.534C>T	17.37:g.3559853C>T		NA	D3DTJ5|Q8IZ01|Q9UNK6	37	CCDS32530.1																																																																																			CTNS-002	KNOWN	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207377.1		+	ENST00000381870.3	Silent	SNP	17 : 3559853 - 3559853 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	235	45
CD1D	912	broad.mit.edu	37	1	158152911	158152911	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158152911G>A	ENST00000368171.3	+	5	1350	c.851G>A	c.(850-852)aGc>aAc	p.S284N		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	284	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GTGAAGCACAGCAGTCTAGAG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	80	83			NA	NA	1		NA											NA				158152911		2203	4300	6503	SO:0001583	missense			BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473	912	912		CD molecules, Immunoglobulin superfamily / C1-set domain containing	1637	protein-coding gene	gene with protein product		188410	CD1D antigen, d polypeptide, CD1d antigen		NA	2463622	Standard	NM_001766	NM_001766	NA	Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.851G>A	1.37:g.158152911G>A	ENSP00000357153:p.Ser284Asn	NA	D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	37	CCDS1173.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.915095	0.73098	.	.	ENSG00000158473	ENST00000368171	T	0.03124	4.04	5.3	3.42	0.39159	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.000000	0.64402	D	0.000012	T	0.12178	0.0296	M	0.94021	3.485	0.30875	N	0.732041	D	0.71674	0.998	D	0.78314	0.991	T	0.06607	-1.0817	10	0.87932	D	0	-21.1727	8.3195	0.32121	0.185:0.0:0.815:0.0	.	284	P15813	CD1D_HUMAN	N	284	ENSP00000357153:S284N	ENSP00000357153:S284N	S	+	2	0	CD1D	156419535	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.371000	0.59523	0.722000	0.32252	0.655000	0.94253	AGC	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058340.1		+	ENST00000368171.3	Missense_Mutation	SNP	1 : 158152911 - 158152911 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	424	13
ZNF567	163081	broad.mit.edu	37	19	37211114	37211114	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37211114C>T	ENST00000585696.1	+	3	2625	c.1395C>T	c.(1393-1395)caC>caT	p.H465H	ZNF567_ENST00000588311.1_Silent_p.H465H|ZNF567_ENST00000360729.4_Silent_p.H465H|ZNF567_ENST00000392163.2_Silent_p.H465H|ZNF567_ENST00000536254.2_Silent_p.H496H|ZNF850_ENST00000589390.1_Intron			Q8N184	ZN567_HUMAN	zinc finger protein 567	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTGATCATCACCGAACTCACA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	75	75			NA	NA	19		NA											NA				37211114		2203	4300	6503	SO:0001819	synonymous_variant			AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042	163081	163081		Zinc fingers, C2H2-type, -	28696	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152603	XM_006723064	NA	Approved	MGC45586	uc002oep.4	Q8N184		ENST00000585696.1:c.1395C>T	19.37:g.37211114C>T		NA	B3KX49|Q6N044	37	CCDS12495.1																																																																																			ZNF567-004	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453553.1		+	ENST00000585696.1	Silent	SNP	19 : 37211114 - 37211114 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	338	52
ZNF516	9658	broad.mit.edu	37	18	74154335	74154335	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74154335C>T	ENST00000443185.2	-	3	993	c.676G>A	c.(676-678)Gcg>Acg	p.A226T	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGCCCCTGCGCGGTGATGTGG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	20	19			NA	NA	18		NA											NA				74154335		2129	4244	6373	SO:0001583	missense			D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493	9658	9658		Zinc fingers, C2H2-type	28990	protein-coding gene	gene with protein product		615114			NA	9039502	Standard	NM_014643	NM_014643	NA	Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.676G>A	18.37:g.74154335C>T	ENSP00000394757:p.Ala226Thr	NA		37		.	.	.	.	.	.	.	.	.	.	C	15.53	2.860693	0.51482	.	.	ENSG00000101493	ENST00000443185	T	0.11169	2.8	4.4	4.4	0.53042	.	0.073018	0.53938	D	0.000045	T	0.07279	0.0184	.	.	.	0.28717	N	0.903243	B	0.31968	0.349	B	0.21546	0.035	T	0.16335	-1.0406	9	0.33141	T	0.24	-2.0811	12.0526	0.53515	0.0:0.9159:0.0:0.0841	.	226	Q92618	ZN516_HUMAN	T	226	ENSP00000394757:A226T	ENSP00000394757:A226T	A	-	1	0	ZNF516	72283323	0.998000	0.40836	0.673000	0.29887	0.881000	0.50899	3.696000	0.54757	2.443000	0.82685	0.563000	0.77884	GCG	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding			-	ENST00000443185.2	Missense_Mutation	SNP	18 : 74154335 - 74154335 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	216	53
ZNF132	7691	broad.mit.edu	37	19	58945596	58945596	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58945596G>A	ENST00000254166.3	-	3	1615	c.1215C>T	c.(1213-1215)tgC>tgT	p.C405C		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	405						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		CACATTGACTGCACTCATAAG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	105	108			NA	NA	19		NA											NA				58945596		2203	4300	6503	SO:0001819	synonymous_variant			U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849	7691	7691		Zinc fingers, C2H2-type, -	12916	protein-coding gene	gene with protein product		604074	zinc finger protein 132 (clone pHZ-12)		NA	7557990	Standard	NM_003433	NM_003433	NA	Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.1215C>T	19.37:g.58945596G>A		NA	Q32MI9	37	CCDS12980.1																																																																																			ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000467035.1		-	ENST00000254166.3	Silent	SNP	19 : 58945596 - 58945596 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	476	46
TJP1	7082	broad.mit.edu	37	15	30010931	30010931	+	Missense_Mutation	SNP	A	A	G	rs141258029	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30010931A>G	ENST00000400011.2	-	21	3428	c.3187T>C	c.(3187-3189)Tct>Cct	p.S1063P	TJP1_ENST00000346128.6_Missense_Mutation_p.S1139P|TJP1_ENST00000356107.6_Missense_Mutation_p.S1139P|TJP1_ENST00000545208.2_Missense_Mutation_p.S1059P			Q07157	ZO1_HUMAN	tight junction protein 1	1139					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CTGTCGTAAGACAGAGGGGCT	0.537		NA											A	2	9e-04	0.0041	NA	2184	NA	0.9996	,	,	NA	3e-04	NA	NA	NA	0.0011	0.8394	LOWCOV,EXOME	NA	NA	4e-04	SNP	Melanoma(77;681 1843 6309 6570)							NA				0													144	146	145			NA	NA	15		NA											NA				30010931		2092	4212	6304	SO:0001583	missense				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067	7082	7082			11827	protein-coding gene	gene with protein product	zona occludens 1, tight junction protein ZO-1	601009			NA	8825647	Standard	NM_003257	XM_005254616	NA	Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000400011.2:c.3187T>C	15.37:g.30010931A>G	ENSP00000382890:p.Ser1063Pro	NA	B4E3K1|Q2NKP3|Q4ZGJ6	37		2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	A	13.50	2.254561	0.39896	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.08008	3.14;3.25	5.93	-2.63	0.06133	.	0.565561	0.20714	N	0.087029	T	0.06600	0.0169	L	0.56769	1.78	0.25561	N	0.986993	B;B;B;B	0.06786	0.0;0.001;0.0;0.001	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.25779	-1.0122	10	0.39692	T	0.17	.	2.7068	0.05164	0.2688:0.3544:0.2722:0.1047	.	1132;1059;1139;1063	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	P	1139;1063;1139;1059;1059	ENSP00000281537:S1139P;ENSP00000382890:S1063P	ENSP00000281537:S1139P	S	-	1	0	TJP1	27798223	0.966000	0.33281	0.010000	0.14722	0.859000	0.49053	0.557000	0.23454	-0.367000	0.08052	0.460000	0.39030	TCT	TJP1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000268241.2		-	ENST00000400011.2	Missense_Mutation	SNP	15 : 30010931 - 30010931 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	868	144
EYA4	2070	broad.mit.edu	37	6	133836487	133836487	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:133836487C>T	ENST00000452339.2	+	16	1924	c.1368C>T	c.(1366-1368)gcC>gcT	p.A456A	EYA4_ENST00000431403.2_Silent_p.A510A|EYA4_ENST00000367895.5_Silent_p.A510A|EYA4_ENST00000355167.3_Silent_p.A510A|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000355286.6_Silent_p.A487A|EYA4_ENST00000525849.1_Silent_p.A487A|EYA4_ENST00000531901.1_Silent_p.A516A|EYA4_ENST00000430974.2_Silent_p.A462A			O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	510					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		AGAGGGATGCCTGGCTACAGT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(57;398 1237 3528 4702 7415)							NA				0													162	155	157			NA	NA	6		NA											NA				133836487		2203	4300	6503	SO:0001819	synonymous_variant			Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319	2070	2070		Protein tyrosine phosphatases / Asp-based PTPs	3522	protein-coding gene	gene with protein product		603550	eyes absent (Drosophila) homolog 4, eyes absent homolog 4 (Drosophila)	DFNA10, CMD1J	NA	9887327, 11159937	Standard	NM_004100	NM_004100	NA	Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000452339.2:c.1368C>T	6.37:g.133836487C>T		NA	O95464|O95679|Q8IW39|Q9NTR7	37																																																																																				EYA4-006	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000391009.1		+	ENST00000452339.2	Silent	SNP	6 : 133836487 - 133836487 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	587	100
ZFYVE9	9372	broad.mit.edu	37	1	52703750	52703750	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52703750A>C	ENST00000371591.1	+	3	792	c.661A>C	c.(661-663)Aca>Cca	p.T221P	ZFYVE9_ENST00000287727.3_Missense_Mutation_p.T221P|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.T221P	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	221					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TAGACCGAAAACAGAGGGGAG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	92	91			NA	NA	1		NA											NA				52703750		2203	4300	6503	SO:0001583	missense			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077	9372	9372		Zinc fingers, FYVE domain containing	6775	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 173	603755	MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor	MADHIP	NA	9865696	Standard	NM_007324	NM_007324	NA	Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.661A>C	1.37:g.52703750A>C	ENSP00000360647:p.Thr221Pro	NA	Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	37	CCDS563.1	.	.	.	.	.	.	.	.	.	.	A	0.335	-0.953594	0.02285	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.12	-9.75	0.00506	.	0.651366	0.13926	N	0.353228	T	0.14485	0.0350	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.0;0.002	T	0.05257	-1.0896	10	0.33940	T	0.23	.	1.5073	0.02489	0.2786:0.1846:0.3538:0.183	.	221;221;221	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	P	221	ENSP00000349737:T221P;ENSP00000355358:T221P;ENSP00000287727:T221P;ENSP00000360647:T221P	ENSP00000287727:T221P	T	+	1	0	ZFYVE9	52476338	0.000000	0.05858	0.042000	0.18584	0.020000	0.10135	-1.926000	0.01562	-1.906000	0.01089	-1.410000	0.01125	ACA	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022083.1		+	ENST00000371591.1	Missense_Mutation	SNP	1 : 52703750 - 52703750 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	573	64
APBB1	322	broad.mit.edu	37	11	6422833	6422833	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6422833C>T	ENST00000609360.1	-	10	1573	c.1474G>A	c.(1474-1476)Gcc>Acc	p.A492T	APBB1_ENST00000608394.1_Missense_Mutation_p.A233T|APBB1_ENST00000311051.3_Missense_Mutation_p.A490T|APBB1_ENST00000389906.2_Missense_Mutation_p.A492T|APBB1_ENST00000608655.1_Missense_Mutation_p.A272T|APBB1_ENST00000608704.1_Missense_Mutation_p.A233T|APBB1_ENST00000529519.1_Missense_Mutation_p.A17T|APBB1_ENST00000609331.1_Missense_Mutation_p.A257T|APBB1_ENST00000608645.1_Missense_Mutation_p.A233T|APBB1_ENST00000299402.6_Missense_Mutation_p.A490T|APBB1_ENST00000530885.1_Missense_Mutation_p.A270T	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	NA	PID 1.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		AGGCTGGTGGCGATGTTCTTG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(147;1810 2556 5672 39622)							NA				0													154	112	126			NA	NA	11		NA											NA				6422833		2201	4296	6497	SO:0001583	missense			L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313	322	322			581	protein-coding gene	gene with protein product		602709		RIR	NA	8955346, 8894693	Standard	NM_001164	NM_001164	NA	Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1474G>A	11.37:g.6422833C>T	ENSP00000477213:p.Ala492Thr	NA	A6NH82|A6NL69|D3DQT2|Q96A93	37		.	.	.	.	.	.	.	.	.	.	C	19.72	3.880540	0.72294	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758;ENST00000536523;ENST00000544288;ENST00000530885;ENST00000533407	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	4.15	4.15	0.48705	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.075519	0.51477	N	0.000085	T	0.47002	0.1422	M	0.67700	2.07	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.985;0.973;1.0	D;B;P;D	0.68483	0.958;0.378;0.497;0.939	T	0.49504	-0.8933	10	0.62326	D	0.03	-3.8853	13.9432	0.64069	0.0:1.0:0.0:0.0	.	95;492;270;490	B7Z4M4;O00213;B7Z2Y0;O00213-2	.;APBB1_HUMAN;.;.	T	490;490;492;341;233;257;270;231	ENSP00000299402:A490T;ENSP00000311912:A490T;ENSP00000374556:A492T;ENSP00000433338:A270T;ENSP00000437114:A231T	ENSP00000299402:A490T	A	-	1	0	APBB1	6379409	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.425000	0.80255	2.137000	0.66172	0.591000	0.81541	GCC	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000471831.1		-	ENST00000609360.1	Missense_Mutation	SNP	11 : 6422833 - 6422833 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	55
C18orf25	147339	broad.mit.edu	37	18	43842923	43842923	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43842923A>T	ENST00000282059.6	+	5	1428	c.1054A>T	c.(1054-1056)Agt>Tgt	p.S352C	C18orf25_ENST00000321319.6_Missense_Mutation_p.S291C	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	352										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						TGTGATTCAGAGTGTTTCTTC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	155	162			NA	NA	18		NA											NA				43842923		2026	4195	6221	SO:0001583	missense			AL713661	CCDS42430.1, CCDS42431.1	18q21.1	2014-01-03			ENSG00000152242	ENSG00000152242	147339	147339			28172	protein-coding gene	gene with protein product	ARKadia-like 1				NA	15722956	Standard	NM_145055	NM_001008239	NA	Approved	MGC12909, ARKL1, RNF111L1	uc002lbw.3	Q96B23		ENST00000282059.6:c.1054A>T	18.37:g.43842923A>T	ENSP00000282059:p.Ser352Cys	NA	A8K123|A8KAB6|Q5XG78|Q6N058|Q86TB5|Q8TCQ5	37	CCDS42430.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.986319	0.74589	.	.	ENSG00000152242	ENST00000282059;ENST00000321319	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.75649	0.3878	L	0.58101	1.795	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.993;0.995	T	0.78630	-0.2129	9	0.87932	D	0	-7.6025	14.9214	0.70841	1.0:0.0:0.0:0.0	.	291;352	Q96B23-2;Q96B23	.;CR025_HUMAN	C	352;291	.	ENSP00000282059:S352C	S	+	1	0	C18orf25	42096921	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.584000	0.82572	1.920000	0.55613	0.460000	0.39030	AGT	C18orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445242.1		+	ENST00000282059.6	Missense_Mutation	SNP	18 : 43842923 - 43842923 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	490	75
RYR3	6263	broad.mit.edu	37	15	33926885	33926885	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33926885C>T	ENST00000389232.4	+	25	3196	c.3126C>T	c.(3124-3126)cgC>cgT	p.R1042R	RYR3_ENST00000415757.3_Silent_p.R1042R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1042	4 X approximate repeats.|B30.2/SPRY 2.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAGCTGTGCGCACTTTTGTTG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	152	153			NA	NA	15		NA											NA				33926885		1927	4141	6068	SO:0001819	synonymous_variant				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838	6263	6263		Ion channels / Ryanodine receptors, EF-hand domain containing	10485	protein-coding gene	gene with protein product		180903			NA	8276408	Standard		NM_001036	NA	Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.3126C>T	15.37:g.33926885C>T		NA	O15175|Q15412	37	CCDS45210.1																																																																																			RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417514.1		+	ENST00000389232.4	Silent	SNP	15 : 33926885 - 33926885 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	518	106
BOD1L1	259282	broad.mit.edu	37	4	13601946	13601946	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13601946G>A	ENST00000040738.5	-	10	6713	c.6578C>T	c.(6577-6579)cCt>cTt	p.P2193L		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	2193							DNA binding				NA						ACTGGGCATAGGCCCCTCAAA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	65	68			NA	NA	4		NA											NA				13601946		2203	4300	6503	SO:0001583	missense			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219	259282	259282			31792	protein-coding gene	gene with protein product			family with sequence similarity 44, member A, biorientation of chromosomes in cell division 1-like	FAM44A, BOD1L	NA		Standard	NM_148894	XM_005248150	NA	Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.6578C>T	4.37:g.13601946G>A	ENSP00000040738:p.Pro2193Leu	NA	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	37	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764525	0.69878	.	.	ENSG00000038219	ENST00000040738	T	0.27402	1.67	5.26	5.26	0.73747	.	0.000000	0.53938	D	0.000059	T	0.57814	0.2079	M	0.77313	2.365	0.58432	D	0.999992	D	0.89917	1.0	D	0.83275	0.996	T	0.62599	-0.6820	10	0.87932	D	0	-5.29	16.0157	0.80439	0.0:0.0:1.0:0.0	.	2193	Q8NFC6	BOD1L_HUMAN	L	2193	ENSP00000040738:P2193L	ENSP00000040738:P2193L	P	-	2	0	BOD1L	13211044	1.000000	0.71417	0.993000	0.49108	0.572000	0.35998	5.826000	0.69293	2.461000	0.83175	0.555000	0.69702	CCT	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207321.1		-	ENST00000040738.5	Missense_Mutation	SNP	4 : 13601946 - 13601946 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	252	51
SYT17	51760	broad.mit.edu	37	16	19195263	19195263	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19195263C>T	ENST00000568115.1	+	4	1100	c.562C>T	c.(562-564)Cgc>Tgc	p.R188C	SYT17_ENST00000355377.2_Missense_Mutation_p.R249C|SYT17_ENST00000562711.2_Missense_Mutation_p.R245C|SYT17_ENST00000562034.1_Missense_Mutation_p.R188C			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	249	C2 1.					membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CGGGGTCAAACGCAAGACCCA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0									CYS/ARG	0,4394		0,0,2197	125	114	118		745	5.7	1	16		118	1,8599	1.2+/-3.3	0,1,4299	no	missense	SYT17	NM_016524.2	180	0,1,6496	TT,TC,CC	NA	0.0116,0.0,0.0077	benign	249/475	19195263	1,12993	2197	4300	6497	SO:0001583	missense				CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528	51760	51760		Synaptotagmins	24119	protein-coding gene	gene with protein product	B/K protein				NA	10493829	Standard	NM_016524	NM_016524	NA	Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000568115.1:c.562C>T	16.37:g.19195263C>T	ENSP00000456009:p.Arg188Cys	NA	O43330|Q9NZ18	37		.	.	.	.	.	.	.	.	.	.	c	19.59	3.855826	0.71834	0.0	1.16E-4	ENSG00000103528	ENST00000355377	T	0.70749	-0.51	5.65	5.65	0.86999	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000007	T	0.74558	0.3732	M	0.65975	2.015	0.80722	D	1	B;B	0.24618	0.107;0.061	B;B	0.31946	0.095;0.138	T	0.73033	-0.4110	10	0.87932	D	0	.	19.7405	0.96228	0.0:1.0:0.0:0.0	.	249;188	Q9BSW7;B4DJB2	SYT17_HUMAN;.	C	249	ENSP00000347538:R249C	ENSP00000347538:R249C	R	+	1	0	SYT17	19102764	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.747000	0.62141	2.661000	0.90470	0.558000	0.71614	CGC	SYT17-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000435875.2		+	ENST00000568115.1	Missense_Mutation	SNP	16 : 19195263 - 19195263 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	928	149
SLC2A10	81031	broad.mit.edu	37	20	45354819	45354819	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45354819G>A	ENST00000359271.2	+	2	1394	c.1144G>A	c.(1144-1146)Gac>Aac	p.D382N		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	382						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CAGATCTGGAGACCCCTCAGC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	67	67			NA	NA	20		NA											NA				45354819		2203	4300	6503	SO:0001583	missense			AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496	81031	81031		Solute carriers	13444	protein-coding gene	gene with protein product		606145			NA	11247674	Standard		NM_030777	NA	Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.1144G>A	20.37:g.45354819G>A	ENSP00000352216:p.Asp382Asn	NA	A8K4J6|Q3MIX5|Q9H4I6	37	CCDS13402.1	.	.	.	.	.	.	.	.	.	.	G	6.685	0.495024	0.12702	.	.	ENSG00000197496	ENST00000359271	D	0.81499	-1.5	5.75	-0.0688	0.13754	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.765990	0.01175	N	0.006943	T	0.65112	0.2660	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.52335	-0.8589	10	0.16896	T	0.51	5.2667	11.1698	0.48565	0.4681:0.0:0.5319:0.0	.	382	O95528	GTR10_HUMAN	N	382	ENSP00000352216:D382N	ENSP00000352216:D382N	D	+	1	0	SLC2A10	44788226	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.638000	0.24674	0.099000	0.17552	-0.126000	0.14955	GAC	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079578.2		+	ENST00000359271.2	Missense_Mutation	SNP	20 : 45354819 - 45354819 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	373	50
SLC4A10	57282	broad.mit.edu	37	2	162833294	162833294	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162833294A>G	ENST00000415876.2	+	24	3343	c.3162A>G	c.(3160-3162)atA>atG	p.I1054M	SLC4A10_ENST00000446997.1_Missense_Mutation_p.I1084M|SLC4A10_ENST00000272716.5_Missense_Mutation_p.I1054M|SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000375514.5_Missense_Mutation_p.I1065M	NM_022058.3	NP_071341.2	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	1084					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGATCAATATATCTGATGAAA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	52	53			NA	NA	2		NA											NA				162833294		1837	4080	5917	SO:0001583	missense				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290	57282	57282		Solute carriers	13811	protein-coding gene	gene with protein product		605556	solute carrier family 4, sodium bicarbonate transporter-like, member 10		NA	10964153, 18319254	Standard	NM_022058	NM_022058	NA	Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000415876.2:c.3162A>G	2.37:g.162833294A>G	ENSP00000395797:p.Ile1054Met	NA	B7ZLC5|B9EG69|Q4ZFX6|Q8TCP2|Q9HCQ6	37	CCDS46438.1	.	.	.	.	.	.	.	.	.	.	A	18.65	3.669050	0.67814	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000415711	D;D;D;D	0.83163	-1.67;-1.65;-1.66;-1.69	6.03	3.61	0.41365	.	0.000000	0.85682	D	0.000000	D	0.91703	0.7377	M	0.92317	3.295	0.52099	D	0.999946	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.977	D	0.90605	0.4547	10	0.87932	D	0	.	8.317	0.32106	0.1205:0.0646:0.0:0.815	.	1065;1054;1084	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	M	1065;1054;1054;1053;1084;1083	ENSP00000364664:I1065M;ENSP00000395797:I1054M;ENSP00000272716:I1054M;ENSP00000393066:I1084M	ENSP00000272716:I1054M	I	+	3	3	SLC4A10	162541540	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.808000	0.38912	0.508000	0.28173	-0.302000	0.09304	ATA	SLC4A10-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333087.2		+	ENST00000415876.2	Missense_Mutation	SNP	2 : 162833294 - 162833294 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	63	16
CLCN2	1181	broad.mit.edu	37	3	184079203	184079203	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184079203A>G	ENST00000434054.2	-	1	187		c.e1+1		CLCN2_ENST00000457512.1_Splice_Site|CLCN2_ENST00000265593.4_Splice_Site|CLCN2_ENST00000423355.2_Splice_Site|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Splice_Site	NM_001171088.2	NP_001164559.1	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	NA						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	AGCTTCACTTACCAGGGTCTG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	62	61			NA	NA	3		NA											NA				184079203		2203	4300	6503	SO:0001630	splice_region_variant			S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859	1181	1181		Ion channels / Chloride channels : Voltage-sensitive	2020	protein-coding gene	gene with protein product		600570	chloride channel 2		NA	7795595	Standard		NM_004366	NA	Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000434054.2:c.63+1T>C	3.37:g.184079203A>G		NA	O14864|Q6IPA9|Q8WU13	37	CCDS54690.1	.	.	.	.	.	.	.	.	.	.	a	9.801	1.180565	0.21787	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	.	.	.	3.81	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2202	0.37373	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLCN2	185561897	0.998000	0.40836	0.998000	0.56505	0.088000	0.18126	1.702000	0.37836	1.742000	0.51746	0.370000	0.22315	.	CLCN2-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345573.1	Intron	-	ENST00000434054.2	Splice_Site	SNP	3 : 184079203 - 184079203 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	489	71
MARK4	57787	broad.mit.edu	37	19	45781209	45781209	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45781209A>C	ENST00000300843.4	+	9	1112	c.815A>C	c.(814-816)aAg>aCg	p.K272T	MARK4_ENST00000262891.4_Missense_Mutation_p.K272T	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	272	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CTCAGAGGGAAGTACCGGGTC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	102	101			NA	NA	19		NA											NA				45781209		2203	4300	6503	SO:0001583	missense			AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	57787	57787	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	MAP/microtubule affinity-regulating kinase like 1	MARKL1	NA	23400999, 11326310, 9108484	Standard	NM_031417	NM_001199867	NA	Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000300843.4:c.815A>C	19.37:g.45781209A>C	ENSP00000300843:p.Lys272Thr	NA	Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	37	CCDS12658.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.356875	0.82243	.	.	ENSG00000007047	ENST00000262893;ENST00000262891;ENST00000300843	T;T	0.66638	-0.22;-0.22	4.19	4.19	0.49359	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66406	0.2786	N	0.11284	0.12	0.80722	D	1	P;P;P	0.40066	0.701;0.518;0.462	D;P;P	0.64410	0.925;0.825;0.732	T	0.71988	-0.4426	10	0.87932	D	0	.	11.5216	0.50553	1.0:0.0:0.0:0.0	.	138;272;272	Q8N2N5;Q96L34;Q96L34-2	.;MARK4_HUMAN;.	T	302;272;272	ENSP00000262891:K272T;ENSP00000300843:K272T	ENSP00000262891:K272T	K	+	2	0	MARK4	50473049	1.000000	0.71417	0.967000	0.41034	0.974000	0.67602	8.993000	0.93524	1.906000	0.55180	0.379000	0.24179	AAG	MARK4-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457538.1		+	ENST00000300843.4	Missense_Mutation	SNP	19 : 45781209 - 45781209 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	435	81
BCL11A	53335	broad.mit.edu	37	2	60688136	60688136	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:60688136C>T	ENST00000335712.6	-	4	2138	c.1911G>A	c.(1909-1911)aaG>aaA	p.K637K	BCL11A_ENST00000358510.4_Silent_p.K603K|BCL11A_ENST00000537768.1_Silent_p.K306K|BCL11A_ENST00000538214.1_Silent_p.K603K|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Silent_p.K637K	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	637					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CCTTCTCGAGCTTGATGCGCT	0.687		NA	T	IGH@	B-CLL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		2	2p13	53335	B-cell CLL/lymphoma 11A		L	0													22	25	24			NA	NA	2		NA											NA				60688136		2198	4299	6497	SO:0001819	synonymous_variant			AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866	53335	53335		Zinc fingers, C2H2-type	13221	protein-coding gene	gene with protein product		606557	ecotropic viral integration site 9	EVI9	NA	11719382, 18245381	Standard	NM_022893	NM_018014	NA	Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1911G>A	2.37:g.60688136C>T		NA	D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	37	CCDS1862.1																																																																																			BCL11A-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251579.2		-	ENST00000335712.6	Silent	SNP	2 : 60688136 - 60688136 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	370	80
TUBGCP3	10426	broad.mit.edu	37	13	113174253	113174253	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113174253C>T	ENST00000261965.3	-	15	2014	c.1828G>A	c.(1828-1830)Gca>Aca	p.A610T	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.A610T	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	610					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	p.A610T(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	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)					TCAAACTGTGCGTTGGTGGCT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											120	120	120			NA	NA	13		NA											NA				113174253		2203	4300	6503	SO:0001583	missense			AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216	10426	10426			18598	protein-coding gene	gene with protein product	spindle pole body protein				NA	9566967, 9566969	Standard	NM_006322	XM_005268293	NA	Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.1828G>A	13.37:g.113174253C>T	ENSP00000261965:p.Ala610Thr	NA	O43631|O60852|O60853|Q7Z4K1|Q96I79	37	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079384	0.94050	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.08807	3.05;3.05	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.31857	0.0810	M	0.81614	2.55	0.80722	D	1	D;P;D	0.76494	0.999;0.879;0.998	D;P;D	0.70227	0.968;0.653;0.957	T	0.06092	-1.0846	10	0.49607	T	0.09	-23.55	18.4225	0.90595	0.0:1.0:0.0:0.0	.	600;610;610	B4DYP7;Q96CW5-2;Q96CW5	.;.;GCP3_HUMAN	T	610	ENSP00000261965:A610T;ENSP00000364821:A610T	ENSP00000261965:A610T	A	-	1	0	TUBGCP3	112222254	1.000000	0.71417	0.803000	0.32268	0.919000	0.55068	7.106000	0.77039	2.336000	0.79503	0.558000	0.71614	GCA	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045825.2		-	ENST00000261965.3	Missense_Mutation	SNP	13 : 113174253 - 113174253 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	589	97
IQCA1	79781	broad.mit.edu	37	2	237406070	237406070	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237406070C>A	ENST00000409907.3	-	2	346	c.72G>T	c.(70-72)gaG>gaT	p.E24D	IQCA1_ENST00000309507.5_Missense_Mutation_p.E20D|IQCA1_ENST00000431676.2_Missense_Mutation_p.E24D	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	24							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TCTTCTGAGGCTCTTTATCGA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	52	52			NA	NA	2		NA											NA				237406070		1848	4087	5935	SO:0001583	missense			AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321	79781	79781		ATPases / AAA-type	26195	protein-coding gene	gene with protein product	dynein regulatory complex subunit 11		IQ motif containing with AAA domain	IQCA	NA	23427265	Standard	NM_024726	NM_024726	NA	Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.72G>T	2.37:g.237406070C>A	ENSP00000387347:p.Glu24Asp	NA	Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	37	CCDS46549.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.28|14.28	2.487286|2.487286	0.44249|0.44249	.|.	.|.	ENSG00000132321|ENSG00000132321	ENST00000418802|ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	.|D;D;D	.|0.95205	.|-3.5;-3.46;-3.64	5.52|5.52	2.71|2.71	0.32032|0.32032	.|.	.|0.000000	.|0.64402	.|D	.|0.000007	D|D	0.95802|0.95802	0.8634|0.8634	L|L	0.56280|0.56280	1.765|1.765	0.34624|0.34624	D|D	0.718933|0.718933	.|D;D;D	.|0.89917	.|0.965;1.0;0.965	.|P;D;P	.|0.91635	.|0.523;0.999;0.523	D|D	0.96316|0.96316	0.9232|0.9232	5|10	.|0.56958	.|D	.|0.05	.|.	12.8231|12.8231	0.57704|0.57704	0.0:0.7967:0.0:0.2033|0.0:0.7967:0.0:0.2033	.|.	.|24;31;24	.|E7EWQ0;E9PH78;Q86XH1	.|.;.;IQCA1_HUMAN	S|D	43|24;31;20;24;20	.|ENSP00000387347:E24D;ENSP00000311951:E20D;ENSP00000407213:E24D	.|ENSP00000254653:E24D	A|E	-|-	1|3	0|2	IQCA1|IQCA1	237070809|237070809	0.356000|0.356000	0.24930|0.24930	0.991000|0.991000	0.47740|0.47740	0.487000|0.487000	0.33371|0.33371	0.131000|0.131000	0.15870|0.15870	0.036000|0.036000	0.15547|0.15547	-0.797000|-0.797000	0.03246|0.03246	GCC|GAG	IQCA1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329266.1		-	ENST00000409907.3	Missense_Mutation	SNP	2 : 237406070 - 237406070 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	175	13
ZNF341	84905	broad.mit.edu	37	20	32333101	32333101	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32333101G>A	ENST00000342427.2	+	3	700	c.335G>A	c.(334-336)cGc>cAc	p.R112H	ZNF341_ENST00000375200.1_Missense_Mutation_p.R112H	NM_032819.3	NP_116208.3	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CCTGCCAATCGCCAGGTATTT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	32	32			NA	NA	20		NA											NA				32333101		2203	4300	6503	SO:0001583	missense			AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061	84905	84905		Zinc fingers, C2H2-type	15992	protein-coding gene	gene with protein product					NA		Standard		NM_001282933	NA	Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000342427.2:c.335G>A	20.37:g.32333101G>A	ENSP00000344308:p.Arg112His	NA	A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	37	CCDS13227.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363913	0.82353	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.11169	3.08;2.8	5.58	5.58	0.84498	.	0.218649	0.42053	D	0.000766	T	0.18299	0.0439	N	0.17082	0.46	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.19095	-1.0316	10	0.17369	T	0.5	-29.7316	17.3441	0.87305	0.0:0.0:1.0:0.0	.	112;112	Q9BYN7;Q9BYN7-2	ZN341_HUMAN;.	H	112	ENSP00000344308:R112H;ENSP00000364346:R112H	ENSP00000344308:R112H	R	+	2	0	ZNF341	31796762	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.325000	0.90007	2.638000	0.89438	0.563000	0.77884	CGC	ZNF341-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078741.2		+	ENST00000342427.2	Missense_Mutation	SNP	20 : 32333101 - 32333101 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	230	43
CCNG2	901	broad.mit.edu	37	4	78082647	78082647	+	Missense_Mutation	SNP	G	G	A	rs34067647		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78082647G>A	ENST00000316355.5	+	5	898	c.542G>A	c.(541-543)aGc>aAc	p.S181N	CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000354403.5_Missense_Mutation_p.S181N|CCNG2_ENST00000502280.1_Missense_Mutation_p.S181N|CCNG2_ENST00000395640.1_Missense_Mutation_p.S181N|CCNG2_ENST00000509972.1_Missense_Mutation_p.S181N	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	181					cell cycle checkpoint|cell division|mitosis	cytoplasm				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						GAAATACTGAGCCTTGATAAA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	58	56			NA	NA	4		NA											NA				78082647		2203	4300	6503	SO:0001583	missense			BC032518	CCDS3581.1	4q21.22	2009-05-07			ENSG00000138764	ENSG00000138764	901	901			1593	protein-coding gene	gene with protein product		603203			NA	8806701	Standard	NM_004354	NM_004354	NA	Approved		uc003hkq.4	Q16589	OTTHUMG00000130100	ENST00000316355.5:c.542G>A	4.37:g.78082647G>A	ENSP00000315743:p.Ser181Asn	NA		37	CCDS3581.1	.	.	.	.	.	.	.	.	.	.	G	8.160	0.789230	0.16258	.	.	ENSG00000138764	ENST00000316355;ENST00000354403;ENST00000502280;ENST00000395640;ENST00000509972	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.79	1.94	0.25998	.	0.206903	0.64402	N	0.000008	T	0.12305	0.0299	N	0.08118	0	0.35924	D	0.832029	B;B	0.02656	0.0;0.0	B;B	0.09377	0.003;0.004	T	0.25606	-1.0127	10	0.07482	T	0.82	-6.0749	9.1384	0.36888	0.5175:0.0:0.4825:0.0	.	181;181	B4DF25;Q16589	.;CCNG2_HUMAN	N	181	ENSP00000315743:S181N;ENSP00000346379:S181N;ENSP00000424665:S181N;ENSP00000379002:S181N;ENSP00000426476:S181N	ENSP00000315743:S181N	S	+	2	0	CCNG2	78301671	0.987000	0.35691	0.933000	0.37362	0.985000	0.73830	1.740000	0.38228	0.311000	0.23014	-0.345000	0.07892	AGC	CCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252404.3		+	ENST00000316355.5	Missense_Mutation	SNP	4 : 78082647 - 78082647 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	325	61
DENND4C	55667	broad.mit.edu	37	9	19346246	19346246	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:19346246G>T	ENST00000602925.1	+	22	3748	c.3332G>T	c.(3331-3333)aGg>aTg	p.R1111M	DENND4C_ENST00000380432.2_Missense_Mutation_p.R875M|DENND4C_ENST00000434457.2_Missense_Mutation_p.R1160M	NM_017925.5	NP_060395.5	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	875						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CCTGATAGTAGGACTTGTATG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	146	151			NA	NA	9		NA											NA				19346246		2203	4300	6503	SO:0001583	missense			AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145	55667	55667		DENN/MADD domain containing	26079	protein-coding gene	gene with protein product			chromosome 9 open reading frame 55B, chromosome 9 open reading frame 55	C9orf55B, C9orf55	NA	12906859	Standard	NM_017925	NM_017925	NA	Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000602925.1:c.3332G>T	9.37:g.19346246G>T	ENSP00000473565:p.Arg1111Met	NA	A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	37	CCDS6491.3	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090810	0.36855	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000453857;ENST00000540671;ENST00000380432;ENST00000380427	T;T	0.25414	1.8;1.81	5.29	4.37	0.52481	.	0.992377	0.08205	N	0.981578	T	0.40546	0.1121	L	0.47716	1.5	0.35036	D	0.759271	D;D;D;D	0.76494	0.996;0.986;0.999;0.976	P;P;P;P	0.60682	0.878;0.855;0.843;0.72	T	0.30563	-0.9974	10	0.49607	T	0.09	-17.6969	10.094	0.42464	0.0732:0.1359:0.7909:0.0	.	205;875;57;875	B7Z660;Q5VZ89-5;Q5VZ89-3;Q5VZ89	.;.;.;DEN4C_HUMAN	M	875;348;57;205;348;57	ENSP00000305795:R348M;ENSP00000443804:R205M	ENSP00000305795:R348M	R	+	2	0	DENND4C	19336246	0.998000	0.40836	0.949000	0.38748	0.041000	0.13682	2.918000	0.48829	2.741000	0.93983	0.650000	0.86243	AGG	DENND4C-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000099627.4		+	ENST00000602925.1	Missense_Mutation	SNP	9 : 19346246 - 19346246 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	704	135
SLC30A3	7781	broad.mit.edu	37	2	27480182	27480182	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27480182C>T	ENST00000233535.4	-	5	969	c.617G>A	c.(616-618)aGc>aAc	p.S206N	SLC30A3_ENST00000447008.2_Missense_Mutation_p.S201N	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	206					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGACCCGTGGCTGTGGGGGGG	0.662		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	2		NA											NA				27480182		2202	4299	6501	SO:0001583	missense			U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194	7781	7781		Solute carriers	11014	protein-coding gene	gene with protein product		602878		ZNT3	NA	8962159	Standard		NM_003459	NA	Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.617G>A	2.37:g.27480182C>T	ENSP00000233535:p.Ser206Asn	NA	Q8TC03	37	CCDS1743.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018026	0.75275	.	.	ENSG00000115194	ENST00000233535;ENST00000447008;ENST00000445870;ENST00000432351;ENST00000426924	T;T;T;T	0.80033	-0.38;-0.37;-1.31;-1.33	5.23	5.23	0.72850	.	0.258927	0.43919	D	0.000511	D	0.83064	0.5173	M	0.63428	1.95	0.48395	D	0.999647	P;P	0.45634	0.863;0.774	P;P	0.49953	0.614;0.627	T	0.79848	-0.1630	10	0.21540	T	0.41	-15.5946	16.6802	0.85290	0.0:1.0:0.0:0.0	.	201;206	F5H3B7;Q99726	.;ZNT3_HUMAN	N	206;201;143;157;193	ENSP00000233535:S206N;ENSP00000415226:S201N;ENSP00000414320:S157N;ENSP00000393545:S193N	ENSP00000233535:S206N	S	-	2	0	SLC30A3	27333686	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.237000	0.51344	2.605000	0.88082	0.555000	0.69702	AGC	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250189.2		-	ENST00000233535.4	Missense_Mutation	SNP	2 : 27480182 - 27480182 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	183	21
ROBO2	6092	broad.mit.edu	37	3	77671486	77671486	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:77671486C>T	ENST00000332191.8	+	23	3719	c.3663C>T	c.(3661-3663)gcC>gcT	p.A1221A	ROBO2_ENST00000461745.1_Silent_p.A1221A|ROBO2_ENST00000487694.3_Silent_p.A1237A			Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1221					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ATGATGATGCCGACGACGAAG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	122	122			NA	NA	3		NA											NA				77671486		1923	4148	6071	SO:0001819	synonymous_variant			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008	6092	6092		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	10250	protein-coding gene	gene with protein product		602431	roundabout (axon guidance receptor, Drosophila) homolog 2		NA	9458045	Standard	XM_031246	NM_002942	NA	Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000332191.8:c.3663C>T	3.37:g.77671486C>T		NA	O43608|Q19AB4	37		.	.	.	.	.	.	.	.	.	.	c	0.036	-1.305500	0.01353	.	.	ENSG00000185008	ENST00000475334	.	.	.	5.56	0.436	0.16549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.1656	0.03836	0.1058:0.2915:0.1526:0.4501	.	.	.	.	X	53	.	.	R	+	1	2	ROBO2	77754176	0.971000	0.33674	0.854000	0.33618	0.003000	0.03518	-1.082000	0.03400	-0.148000	0.11234	-1.874000	0.00550	CGA	ROBO2-003	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000352601.1		+	ENST00000332191.8	Silent	SNP	3 : 77671486 - 77671486 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	387	61
EED	8726	broad.mit.edu	37	11	85967452	85967452	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85967452T>C	ENST00000528180.1	+	5	927	c.450T>C	c.(448-450)tgT>tgC	p.C150C	EED_ENST00000263360.6_Silent_p.C150C|EED_ENST00000351625.6_Silent_p.C150C|EED_ENST00000327320.4_Silent_p.C150C			O75530	EED_HUMAN	embryonic ectoderm development	150	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				TTTACACTTGTGCATGGACCT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	95	95			NA	NA	11		NA											NA				85967452		2202	4299	6501	SO:0001819	synonymous_variant			AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266	8726	8726		WD repeat domain containing	3188	protein-coding gene	gene with protein product	WD protein associating with integrin cytoplasmic tails 1	605984			NA	9765275, 9806832	Standard	NM_003797	NM_003797	NA	Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000528180.1:c.450T>C	11.37:g.85967452T>C		NA	A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	37																																																																																				EED-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000393734.1		+	ENST00000528180.1	Silent	SNP	11 : 85967452 - 85967452 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	82
BMI1	648	broad.mit.edu	37	10	22618434	22618434	+	Nonsense_Mutation	SNP	C	C	A	rs140326477		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22618434C>A	ENST00000376663.3	+	10	1449	c.944C>A	c.(943-945)tCa>tAa	p.S315*	COMMD3-BMI1_ENST00000602390.1_Nonsense_Mutation_p.S458*	NM_005180.8	NP_005171.4			BMI1 proto-oncogene, polycomb ring finger	NA								p.S315L(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						CCTCGAAAATCATCAGTAAAT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	skin(1)											122	118	119			NA	NA	10		NA											NA				22618434		2203	4300	6503	SO:0001587	stop_gained			BC011652	CCDS7138.1	10p13	2014-06-26	2014-06-26	2006-04-26	ENSG00000168283	ENSG00000168283	648	648		RING-type (C3HC4) zinc fingers, Polycomb group ring fingers	1066	protein-coding gene	gene with protein product		164831	polycomb group ring finger 4, B lymphoma Mo-MLV insertion region 1 homolog (mouse)	PCGF4	NA	8268912	Standard	NM_005180	NM_005180	NA	Approved	RNF51		P35226	OTTHUMG00000017807	ENST00000376663.3:c.944C>A	10.37:g.22618434C>A	ENSP00000365851:p.Ser315*	NA		37	CCDS7138.1	.	.	.	.	.	.	.	.	.	.	C	37	6.341758	0.97489	.	.	ENSG00000168283	ENST00000376691;ENST00000376663	.	.	.	5.58	5.58	0.84498	.	0.421653	0.25817	N	0.028101	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-4.5961	12.541	0.56169	0.0:0.9231:0.0:0.0769	.	.	.	.	X	227;315	.	ENSP00000365851:S315X	S	+	2	0	BMI1	22658440	0.997000	0.39634	0.999000	0.59377	0.991000	0.79684	4.119000	0.57891	2.638000	0.89438	0.650000	0.86243	TCA	BMI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047176.1		+	ENST00000376663.3	Nonsense_Mutation	SNP	10 : 22618434 - 22618434 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	419	71
CRAMP1L	57585	broad.mit.edu	37	16	1691164	1691164	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1691164A>C	ENST00000397412.3	+	6	902	c.803A>C	c.(802-804)aAg>aCg	p.K268T	LA16c-431H6.6_ENST00000454337.1_Missense_Mutation_p.K72N|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.K265T|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.K268T			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	268						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						AATGCAACAAAGCTGAATGAA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	134	134			NA	NA	16		NA											NA				1691164		1866	4114	5980	SO:0001583	missense			AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545	57585	57585			14122	protein-coding gene	gene with protein product			Crm (Cramped Drosophila)-like		NA		Standard		NM_020825	NA	Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.803A>C	16.37:g.1691164A>C	ENSP00000380559:p.Lys268Thr	NA	A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	37	CCDS10440.2	.	.	.	.	.	.	.	.	.	.	A	16.60	3.167663	0.57476	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138	.	.	.	5.46	5.46	0.80206	.	0.058546	0.64402	D	0.000003	T	0.76421	0.3985	M	0.67397	2.05	0.80722	D	1	D	0.67145	0.996	D	0.66497	0.944	T	0.79485	-0.1784	9	0.87932	D	0	-21.7209	15.5282	0.75928	1.0:0.0:0.0:0.0	.	268	Q96RY5	CRML_HUMAN	T	268;268;265	.	ENSP00000293925:K268T	K	+	2	0	CRAMP1L	1631165	1.000000	0.71417	0.967000	0.41034	0.582000	0.36321	8.836000	0.92105	2.076000	0.62316	0.459000	0.35465	AAG	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157297.4		+	ENST00000397412.3	Missense_Mutation	SNP	16 : 1691164 - 1691164 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	9
GFER	2671	broad.mit.edu	37	16	2035969	2035969	+	Silent	SNP	C	C	T	rs142220504		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2035969C>T	ENST00000248114.6	+	3	564	c.558C>T	c.(556-558)ttC>ttT	p.F186F	GFER_ENST00000569451.1_3'UTR|GFER_ENST00000567719.1_Silent_p.F111F|AC005606.14_ENST00000564438.1_lincRNA	NM_005262.2	NP_005253.3	P55789	ALR_HUMAN	growth factor, augmenter of liver regeneration	186	ERV/ALR sulfhydryl oxidase.				cell proliferation|spermatogenesis	extracellular region|mitochondrial intermembrane space	growth factor activity|thiol oxidase activity	p.F186F(1)		endometrium(1)|large_intestine(1)|lung(3)	5						AGCCTGACTTCGACTGCTCAA	0.607		NA											c	2	9e-04	NA	0.01	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	0.001	0.9359	EXOME	NA	NA	4e-04	SNP								NA				1	Substitution - coding silent(1)	large_intestine(1)											92	86	88			NA	NA	16		NA											NA				2035969		2198	4300	6498	SO:0001819	synonymous_variant			BC002429	CCDS32368.1	16p13.3-p13.12	2011-06-22	2008-08-01		ENSG00000127554	ENSG00000127554	2671	2671			4236	protein-coding gene	gene with protein product	ERV1 homolog (S. cerevisiae)	600924	growth factor, erv1 (S. cerevisiae)-like (augmenter of liver regeneration)		NA	8575761	Standard	NM_005262	NM_005262	NA	Approved	HSS, ERV1, ALR, HERV1, HPO1, HPO2	uc002cob.3	P55789		ENST00000248114.6:c.558C>T	16.37:g.2035969C>T		NA	Q8TAH6|Q9H290|Q9UK40	37	CCDS32368.1																																																																																			GFER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434243.1		+	ENST00000248114.6	Silent	SNP	16 : 2035969 - 2035969 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	696	124
MEP1A	4224	broad.mit.edu	37	6	46806754	46806754	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46806754C>T	ENST00000230588.4	+	14	2131	c.2122C>T	c.(2122-2124)Cgc>Tgc	p.R708C		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	708	EGF-like.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CACGGGGGAGCGCTGTCAGGC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	130	135			NA	NA	6		NA											NA				46806754		2203	4300	6503	SO:0001583	missense				CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	4224	4224	3.4.24.18		7015	protein-coding gene	gene with protein product		600388			NA	7774936	Standard	NM_005588	NM_005588	NA	Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.2122C>T	6.37:g.46806754C>T	ENSP00000230588:p.Arg708Cys	NA	A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	37	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925138	0.73213	.	.	ENSG00000112818	ENST00000230588	D	0.93811	-3.29	5.8	4.88	0.63580	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.383602	0.31963	N	0.006797	D	0.94417	0.8204	M	0.71036	2.16	0.50039	D	0.999846	D;D	0.76494	0.999;0.996	P;P	0.57283	0.817;0.803	D	0.94627	0.7818	10	0.87932	D	0	-9.3579	14.1676	0.65488	0.2205:0.7795:0.0:0.0	.	736;708	B7ZL91;Q16819	.;MEP1A_HUMAN	C	708	ENSP00000230588:R708C	ENSP00000230588:R708C	R	+	1	0	MEP1A	46914713	0.998000	0.40836	1.000000	0.80357	0.476000	0.33039	2.820000	0.48057	2.751000	0.94390	0.650000	0.86243	CGC	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040803.1		+	ENST00000230588.4	Missense_Mutation	SNP	6 : 46806754 - 46806754 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	940	168
ACTR3C	653857	broad.mit.edu	37	7	149983532	149983532	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149983532G>A	ENST00000539352.1	-	5	646	c.395C>T	c.(394-396)gCg>gTg	p.A132V	ACTR3C_ENST00000252071.4_Missense_Mutation_p.A132V	NM_001164458.1	NP_001157930.1	Q9C0K3	ARP3C_HUMAN	ARP3 actin-related protein 3 homolog C (yeast)	132					regulation of actin filament polymerization	cytoskeleton	actin binding|ATP binding				NA						CTGGTTGATCGCATTGATACC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	169	166			NA	NA	7		NA											NA				149983532		692	1591	2283	SO:0001583	missense				CCDS47744.1	7q36.1	2009-09-23			ENSG00000106526	ENSG00000106526	653857	653857			37282	protein-coding gene	gene with protein product					NA	11162478, 14651955	Standard		NM_001164458	NA	Approved	ARP11	uc022aps.1	Q9C0K3	OTTHUMG00000158323	ENST00000539352.1:c.395C>T	7.37:g.149983532G>A	ENSP00000440990:p.Ala132Val	NA	Q5CZI4	37	CCDS47744.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.383883	0.25031	.	.	ENSG00000106526	ENST00000478393;ENST00000252071;ENST00000539352	T;T;T	0.07216	3.21;3.21;3.21	2.3	2.3	0.28687	.	0.163294	0.39687	N	0.001298	T	0.06188	0.0160	L	0.33485	1.01	0.32708	N	0.511942	B	0.21606	0.058	B	0.06405	0.002	T	0.13072	-1.0523	9	.	.	.	.	10.7476	0.46189	0.0:0.0:1.0:0.0	.	132	Q9C0K3	ARP3C_HUMAN	V	130;132;132	ENSP00000417426:A130V;ENSP00000252071:A132V;ENSP00000440990:A132V	.	A	-	2	0	ACTR3C	149614465	1.000000	0.71417	0.951000	0.38953	0.275000	0.26752	5.805000	0.69143	1.604000	0.50143	0.184000	0.17185	GCG	ACTR3C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350676.2		-	ENST00000539352.1	Missense_Mutation	SNP	7 : 149983532 - 149983532 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	919	137
OR6N1	128372	broad.mit.edu	37	1	158735907	158735907	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158735907C>T	ENST00000335094.2	-	1	585	c.566G>A	c.(565-567)tGc>tAc	p.C189Y		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					CGTATCAGTGCAAGCCAAACT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	113	111			NA	NA	1		NA											NA				158735907		2203	4300	6503	SO:0001583	missense			BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403	128372	128372		GPCR / Class A : Olfactory receptors	15034	protein-coding gene	gene with protein product					NA		Standard	NM_001005185	NM_001005185	NA	Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.566G>A	1.37:g.158735907C>T	ENSP00000335535:p.Cys189Tyr	NA	Q5VUU8|Q96R35	37	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558087	0.65538	.	.	ENSG00000197403	ENST00000335094	T	0.00462	7.26	4.78	4.78	0.61160	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000116	T	0.01421	0.0046	M	0.93678	3.445	0.52099	D	0.999947	D	0.89917	1.0	D	0.91635	0.999	T	0.44847	-0.9301	10	0.87932	D	0	-13.5291	16.7399	0.85456	0.0:1.0:0.0:0.0	.	189	Q8NGY5	OR6N1_HUMAN	Y	189	ENSP00000335535:C189Y	ENSP00000335535:C189Y	C	-	2	0	OR6N1	157002531	0.955000	0.32602	1.000000	0.80357	0.966000	0.64601	2.281000	0.43452	2.454000	0.82982	0.655000	0.94253	TGC	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059067.1		-	ENST00000335094.2	Missense_Mutation	SNP	1 : 158735907 - 158735907 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	601	135
PHKB	5257	broad.mit.edu	37	16	47727313	47727313	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47727313C>T	ENST00000299167.8	+	28	2815	c.2790C>T	c.(2788-2790)atC>atT	p.I930I	PHKB_ENST00000323584.5_Silent_p.I930I|PHKB_ENST00000455779.1_Silent_p.I923I|PHKB_ENST00000566044.1_Silent_p.I923I			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	930	Calmodulin-binding (Potential).				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GGCGTCAGATCGATGGGTCTT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	81	83			NA	NA	16		NA											NA				47727313		2201	4300	6501	SO:0001819	synonymous_variant				CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	5257	5257	2.7.11.19		8927	protein-coding gene	gene with protein product		172490			NA		Standard		NM_000293	NA	Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000299167.8:c.2790C>T	16.37:g.47727313C>T		NA	Q8N4T5	37																																																																																				PHKB-001	KNOWN	alternative_5_UTR|basic	protein_coding	NA	protein_coding	OTTHUMT00000256767.3		+	ENST00000299167.8	Silent	SNP	16 : 47727313 - 47727313 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	214	38
PRLR	5618	broad.mit.edu	37	5	35065452	35065452	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35065452C>T	ENST00000310101.5	-	9	1035	c.1036G>A	c.(1036-1038)Gcc>Acc	p.A346T	PRLR_ENST00000397391.3_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000342362.5_Silent_p.K435K|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Silent_p.K435K|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000382002.5_Silent_p.K536K	NM_001204315.1	NP_001191244.1	P16471	PRLR_HUMAN	prolactin receptor	0					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GAGTCCCGGGCTTCTTGGGCT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	84	85			NA	NA	5		NA											NA				35065452		2203	4300	6503	SO:0001583	missense				CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494	5618	5618			9446	protein-coding gene	gene with protein product		176761			NA		Standard		NM_001204315	NA	Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000310101.5:c.1036G>A	5.37:g.35065452C>T	ENSP00000309008:p.Ala346Thr	NA	B2R882|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	37	CCDS56362.1	.	.	.	.	.	.	.	.	.	.	C	4.643	0.119560	0.08881	.	.	ENSG00000113494	ENST00000310101	T	0.76316	-1.01	5.77	2.92	0.33932	.	.	.	.	.	T	0.71937	0.3399	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.63752	-0.6566	6	0.62326	D	0.03	-2.6829	3.6693	0.08268	0.1317:0.4836:0.2567:0.128	.	.	.	.	T	346	ENSP00000309008:A346T	ENSP00000309008:A346T	A	-	1	0	PRLR	35101209	0.002000	0.14202	0.076000	0.20297	0.003000	0.03518	-0.165000	0.09968	0.304000	0.22809	0.655000	0.94253	GCC	PRLR-009	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366866.1		-	ENST00000310101.5	Missense_Mutation	SNP	5 : 35065452 - 35065452 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	405	56
PEX1	5189	broad.mit.edu	37	7	92135622	92135622	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92135622T>C	ENST00000428214.1	-	11	1839	c.1840A>G	c.(1840-1842)Aaa>Gaa	p.K614E	PEX1_ENST00000248633.4_Missense_Mutation_p.K614E|PEX1_ENST00000541751.1_Missense_Mutation_p.K31E|PEX1_ENST00000438045.1_Missense_Mutation_p.K292E	NM_001282677.1	NP_001269606.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	614					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AATGCTTCTTTACAGATTGCT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	152	155			NA	NA	7		NA											NA				92135622		2203	4300	6503	SO:0001583	missense			AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980	5189	5189		ATPases / AAA-type	8850	protein-coding gene	gene with protein product		602136	peroxisome biogenesis factor 1, Zellweger syndrome 1, Zellweger syndrome	ZWS1, ZWS	NA	9398848	Standard	NM_000466	NM_001282677	NA	Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000428214.1:c.1840A>G	7.37:g.92135622T>C	ENSP00000394413:p.Lys614Glu	NA	A4D1G3|A8KA90|Q96S71|Q96S72|Q96S73|Q99994	37	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	T	15.66	2.900065	0.52227	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214;ENST00000541751;ENST00000545192	D;D;T;D	0.93076	-3.16;-3.16;2.25;-3.16	5.2	2.75	0.32379	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.326457	0.36338	N	0.002645	D	0.89952	0.6864	L	0.38175	1.15	0.35821	D	0.824617	P;P;P	0.41366	0.698;0.698;0.747	B;B;B	0.43386	0.338;0.341;0.418	D	0.89190	0.3550	10	0.48119	T	0.1	-8.6891	11.8096	0.52175	0.0:0.0:0.3037:0.6963	.	292;406;614	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	E	292;614;614;31;614	ENSP00000410438:K292E;ENSP00000248633:K614E;ENSP00000394413:K614E;ENSP00000438637:K31E	ENSP00000248633:K614E	K	-	1	0	PEX1	91973558	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.065000	0.49994	0.278000	0.22164	0.454000	0.30748	AAA	PEX1-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342659.1		-	ENST00000428214.1	Missense_Mutation	SNP	7 : 92135622 - 92135622 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	615	140
HAO2	51179	broad.mit.edu	37	1	119923708	119923708	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:119923708A>C	ENST00000361035.4	+	3	322	c.39A>C	c.(37-39)gaA>gaC	p.E13D	HAO2_ENST00000325945.3_5'UTR			Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	0	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		AAGGTCCAGAAATGTCCTTGG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													177	170	172			NA	NA	1		NA											NA				119923708		2203	4300	6503	SO:0001583	missense			AF231917	CCDS901.1	1p13.3-p13.1	2008-07-18			ENSG00000116882	ENSG00000116882	51179	51179	1.1.3.15		4810	protein-coding gene	gene with protein product	(S)-2-hydroxy-acid oxidase, glycolate oxidase, long-chain L-2-hydroxy acid oxidase, growth-inhibiting protein 16	605176			NA	10777549	Standard	NM_001005783	XM_005270913	NA	Approved	HAOX2, GIG16	uc001ehr.1	Q9NYQ3	OTTHUMG00000012410	ENST00000361035.4:c.39A>C	1.37:g.119923708A>C	ENSP00000354314:p.Glu13Asp	NA	Q2TU86|Q9UJS6	37		.	.	.	.	.	.	.	.	.	.	A	8.040	0.763721	0.15914	.	.	ENSG00000116882	ENST00000361035	T	0.30182	1.54	5.4	3.02	0.34903	.	0.798993	0.10999	N	0.610682	T	0.15262	0.0368	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.17410	-1.0370	6	.	.	.	-8.5004	5.014	0.14326	0.7215:0.0:0.1439:0.1346	.	.	.	.	D	13	ENSP00000354314:E13D	.	E	+	3	2	HAO2	119725231	1.000000	0.71417	0.998000	0.56505	0.248000	0.25809	1.749000	0.38319	0.333000	0.23563	0.533000	0.62120	GAA	HAO2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000034532.2		+	ENST00000361035.4	Missense_Mutation	SNP	1 : 119923708 - 119923708 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	863	79
MYOM1	8736	broad.mit.edu	37	18	3173962	3173962	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3173962G>T	ENST00000356443.4	-	8	1481	c.1148C>A	c.(1147-1149)gCt>gAt	p.A383D	MYOM1_ENST00000400569.3_Missense_Mutation_p.A383D|MYOM1_ENST00000261606.7_Missense_Mutation_p.A383D	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	383						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GGAAGCCCCAGCGTGGAAGCG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	77	78			NA	NA	18		NA											NA				3173962		1865	4105	5970	SO:0001583	missense			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605	8736	8736		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	7613	protein-coding gene	gene with protein product	skelemin	603508	myomesin 1 (skelemin) (185kD), myomesin 1 (skelemin) 185kDa, myomesin 1, 185kDa		NA	9806852	Standard	NM_003803	NM_019856	NA	Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.1148C>A	18.37:g.3173962G>T	ENSP00000348821:p.Ala383Asp	NA	Q14BD6|Q6H969|Q6ZUU0	37	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	9.558	1.117782	0.20877	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.49720	0.9;0.91;0.77	5.97	3.07	0.35406	.	0.740364	0.13140	N	0.410730	T	0.28566	0.0707	N	0.08118	0	0.20489	N	0.999899	B;B	0.25772	0.127;0.134	B;B	0.29942	0.109;0.051	T	0.22871	-1.0204	10	0.15952	T	0.53	.	12.3769	0.55285	0.0:0.2439:0.6345:0.1216	.	383;383	P52179-2;P52179	.;MYOM1_HUMAN	D	383	ENSP00000348821:A383D;ENSP00000383413:A383D;ENSP00000261606:A383D	ENSP00000261606:A383D	A	-	2	0	MYOM1	3163962	0.931000	0.31567	0.010000	0.14722	0.534000	0.34807	2.833000	0.48159	0.349000	0.23975	0.655000	0.94253	GCT	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000441037.2		-	ENST00000356443.4	Missense_Mutation	SNP	18 : 3173962 - 3173962 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	43
MORC1	27136	broad.mit.edu	37	3	108778706	108778706	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108778706C>A	ENST00000483760.1	-	12	1021	c.978G>T	c.(976-978)caG>caT	p.Q326H	MORC1_ENST00000232603.5_Missense_Mutation_p.Q326H			Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	326					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CCAAAGCTCTCTGTAATACAT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	120	126			NA	NA	3		NA											NA				108778706		2203	4300	6503	SO:0001583	missense			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487	27136	27136			7198	protein-coding gene	gene with protein product	cancer/testis antigen 33	603205	microrchidia (mouse) homolog, microrchidia homolog (mouse)	MORC	NA	10369865	Standard		NM_014429	NA	Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.978G>T	3.37:g.108778706C>A	ENSP00000417282:p.Gln326His	NA	Q7L8E2|Q9NSG7|Q9Y6D4	37		.	.	.	.	.	.	.	.	.	.	C	11.56	1.673784	0.29693	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.06218	3.33;3.34	5.02	1.29	0.21616	.	0.730120	0.11841	N	0.524317	T	0.15132	0.0365	M	0.63428	1.95	0.27887	N	0.93948	D;D	0.67145	0.996;0.99	P;P	0.58820	0.846;0.827	T	0.10359	-1.0633	10	0.45353	T	0.12	0.2174	7.7351	0.28810	0.0:0.6924:0.0:0.3076	.	326;326	E7ERX1;Q86VD1	.;MORC1_HUMAN	H	326	ENSP00000232603:Q326H;ENSP00000417282:Q326H	ENSP00000232603:Q326H	Q	-	3	2	MORC1	110261396	1.000000	0.71417	0.573000	0.28510	0.944000	0.59088	1.231000	0.32624	0.053000	0.16036	0.650000	0.86243	CAG	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000353844.1		-	ENST00000483760.1	Missense_Mutation	SNP	3 : 108778706 - 108778706 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	35
GPCPD1	56261	broad.mit.edu	37	20	5539456	5539456	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5539456T>C	ENST00000379019.4	-	18	1754	c.1542A>G	c.(1540-1542)caA>caG	p.Q514Q	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	514	GDPD.				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						TGTTCTGCTTTTGCCGAACCC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	57	56			NA	NA	20		NA											NA				5539456		2203	4300	6503	SO:0001819	synonymous_variant				CCDS13090.1	20p12.3	2011-01-25			ENSG00000125772	ENSG00000125772	56261	56261			26957	protein-coding gene	gene with protein product		614124			NA	10718198, 20576599	Standard	NM_019593	NM_019593	NA	Approved	KIAA1434, GDE5, GDPD6	uc002wme.4	Q9NPB8	OTTHUMG00000031806	ENST00000379019.4:c.1542A>G	20.37:g.5539456T>C		NA	D3DW06|Q9BQL8|Q9NUX0	37	CCDS13090.1	.	.	.	.	.	.	.	.	.	.	T	7.941	0.742788	0.15642	.	.	ENSG00000125772	ENST00000418646	.	.	.	5.22	-1.59	0.08453	.	.	.	.	.	T	0.39733	0.1089	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27365	-1.0076	4	.	.	.	-9.3187	1.6724	0.02814	0.1453:0.2905:0.2971:0.2671	.	.	.	.	E	106	.	.	K	-	1	0	GPCPD1	5487456	0.038000	0.19896	0.997000	0.53966	0.998000	0.95712	-0.952000	0.03881	-0.142000	0.11354	0.533000	0.62120	AAA	GPCPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077869.1		-	ENST00000379019.4	Silent	SNP	20 : 5539456 - 5539456 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	167	32
GRM8	2918	broad.mit.edu	37	7	126746697	126746697	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:126746697G>A	ENST00000339582.2	-	3	1388	c.580C>T	c.(580-582)Cga>Tga	p.R194*	GRM8_ENST00000358373.3_Nonsense_Mutation_p.R194*|GRM8_ENST00000405249.1_Nonsense_Mutation_p.R194*|GRM8_ENST00000444921.2_Nonsense_Mutation_p.R194*|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	194				R -> A (in Ref. 1; AAB72040).	negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GGAACCACTCGAGAGAAAAAG	0.488		NA								HNSCC(24;0.065)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	142	142			NA	NA	7		NA											NA				126746697		2203	4300	6503	SO:0001587	stop_gained				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603	NA	2918		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4600	protein-coding gene	gene with protein product		601116			NA	8824806	Standard		NM_000845	NA	Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.580C>T	7.37:g.126746697G>A	ENSP00000344173:p.Arg194*	NA	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	37	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	G	38	7.190590	0.98125	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830;ENST00000465844	.	.	.	4.91	4.02	0.46733	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6223	0.62144	0.0:0.0:0.8439:0.1561	.	.	.	.	X	194;194;194;194;194;4	.	ENSP00000344173:R194X	R	-	1	2	GRM8	126533933	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.990000	0.88215	1.038000	0.40049	0.563000	0.77884	CGA	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059209.4		-	ENST00000339582.2	Nonsense_Mutation	SNP	7 : 126746697 - 126746697 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	318	67
AHI1	54806	broad.mit.edu	37	6	135763781	135763781	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135763781G>T	ENST00000367800.4	-	12	2067	c.1851C>A	c.(1849-1851)ttC>ttA	p.F617L	AHI1_ENST00000457866.2_Missense_Mutation_p.F617L|AHI1_ENST00000327035.6_Missense_Mutation_p.F617L|AHI1_ENST00000417892.2_5'UTR	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	617						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CATTGTGGGAGAAATCAAGAC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	61	62			NA	NA	6		NA											NA				135763781		1864	4102	5966	SO:0001583	missense			AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541	54806	54806		WD repeat domain containing	21575	protein-coding gene	gene with protein product	Jouberin	608894	Abelson helper integration site		NA	15060101, 16240161	Standard	NM_017651	NM_017651	NA	Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.1851C>A	6.37:g.135763781G>T	ENSP00000356774:p.Phe617Leu	NA	E1P584|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	37	CCDS47483.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.356206|4.356206	0.82243|0.82243	.|.	.|.	ENSG00000135541|ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801|ENST00000367799	T;T;T;T|.	0.70986|.	-0.53;-0.53;-0.53;-0.53|.	5.96|5.96	5.1|5.1	0.69264|0.69264	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61788|0.61788	0.2375|0.2375	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.999|.	D;D;D|.	0.87578|.	0.997;0.998;0.996|.	T|T	0.63184|0.63184	-0.6694|-0.6694	10|5	0.72032|.	D|.	0.01|.	-10.329|-10.329	14.8195|14.8195	0.70062|0.70062	0.0695:0.0:0.9305:0.0|0.0695:0.0:0.9305:0.0	.|.	617;617;617|.	Q8N157-2;Q8N157;Q4FD35|.	.;AHI1_HUMAN;.|.	L|Y	617|117	ENSP00000356774:F617L;ENSP00000388650:F617L;ENSP00000265602:F617L;ENSP00000322478:F617L|.	ENSP00000265602:F617L|.	F|S	-|-	3|2	2|0	AHI1|AHI1	135805474|135805474	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.705000|3.705000	0.54823|0.54823	1.536000|1.536000	0.49237|0.49237	-0.136000|-0.136000	0.14681|0.14681	TTC|TCT	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391948.1		-	ENST00000367800.4	Missense_Mutation	SNP	6 : 135763781 - 135763781 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	71	16
ROBO1	6091	broad.mit.edu	37	3	78680428	78680428	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:78680428C>A	ENST00000464233.1	-	25	3622	c.3509G>T	c.(3508-3510)aGa>aTa	p.R1170I	ROBO1_ENST00000467549.1_Missense_Mutation_p.R1070I|ROBO1_ENST00000495273.1_Missense_Mutation_p.R1125I|ROBO1_ENST00000436010.2_Missense_Mutation_p.R1131I	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1170					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CTTGGGTGTTCTTGCCCCTTT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	163	164			NA	NA	3		NA											NA				78680428		2061	4190	6251	SO:0001583	missense			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855	6091	6091		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	10249	protein-coding gene	gene with protein product		602430	roundabout (axon guidance receptor, Drosophila) homolog 1		NA	9458045, 9608531	Standard	NM_002941	NM_002941	NA	Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.3509G>T	3.37:g.78680428C>A	ENSP00000420321:p.Arg1170Ile	NA	D3DU36|Q7Z300|Q9BUS7	37	CCDS54611.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.3|29.3	4.998365|4.998365	0.93227|0.93227	.|.	.|.	ENSG00000169855|ENSG00000169855	ENST00000472273|ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	.|D;D;D;D	.|0.85484	.|-1.99;-1.99;-1.99;-1.99	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.90410	.|0.6998	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|D;B;D;P;B	.|0.69078	.|0.997;0.294;0.973;0.883;0.264	.|D;B;P;B;B	.|0.80764	.|0.994;0.171;0.713;0.272;0.196	.|D	.|0.88927	.|0.3370	.|9	.|.	.|.	.|.	.|.	19.484|19.484	0.95022|0.95022	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1134;1170;1125;1070;1131	.|Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.|.;ROBO1_HUMAN;.;.;.	X|I	97|1131;1125;1170;1125;1070;1174	.|ENSP00000406043:R1131I;ENSP00000420321:R1170I;ENSP00000420637:R1125I;ENSP00000417992:R1070I	.|.	E|R	-|-	1|2	0|0	ROBO1|ROBO1	78763118|78763118	1.000000|1.000000	0.71417|0.71417	0.787000|0.787000	0.31911|0.31911	0.932000|0.932000	0.56968|0.56968	7.445000|7.445000	0.80570|0.80570	2.669000|2.669000	0.90835|0.90835	0.650000|0.650000	0.86243|0.86243	GAA|AGA	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352610.1		-	ENST00000464233.1	Missense_Mutation	SNP	3 : 78680428 - 78680428 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	162	25
SLC7A2	6542	broad.mit.edu	37	8	17422552	17422552	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17422552T>G	ENST00000470360.1	+	14	2108	c.1991T>G	c.(1990-1992)gTt>gGt	p.V664G	SLC7A2_ENST00000494857.1_Missense_Mutation_p.V625G|SLC7A2_ENST00000004531.10_Missense_Mutation_p.V665G|SLC7A2_ENST00000522656.1_Missense_Mutation_p.V625G|SLC7A2_ENST00000398090.3_Missense_Mutation_p.V664G			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	625					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CCAGACAACGTTCATGCAGCA	0.408		NA											T	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	0.001	SNP								NA				0													112	95	101			NA	NA	8		NA											NA				17422552		2203	4300	6503	SO:0001583	missense			D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989	6542	6542		Solute carriers	11060	protein-coding gene	gene with protein product		601872		ATRC2	NA	8954799	Standard	NM_003046	NM_001164771	NA	Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000470360.1:c.1991T>G	8.37:g.17422552T>G	ENSP00000419873:p.Val664Gly	NA	B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	37	CCDS6002.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	0.597	-0.830718	0.02734	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.88354	-2.19;-2.19;-2.37;-2.22;-2.37	5.11	-0.393	0.12438	.	1.923250	0.01901	N	0.039188	T	0.79125	0.4393	N	0.14661	0.345	0.09310	N	1	B;B;B	0.16396	0.0;0.017;0.004	B;B;B	0.19666	0.001;0.026;0.005	T	0.65278	-0.6207	10	0.23302	T	0.38	.	5.3749	0.16160	0.0:0.1784:0.4299:0.3916	.	665;664;625	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	G	625;625;664;665;664	ENSP00000419140:V625G;ENSP00000430464:V625G;ENSP00000419873:V664G;ENSP00000004531:V665G;ENSP00000381164:V664G	ENSP00000004531:V665G	V	+	2	0	SLC7A2	17466826	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.558000	0.05978	0.123000	0.18342	-0.263000	0.10527	GTT	SLC7A2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253368.3		+	ENST00000470360.1	Missense_Mutation	SNP	8 : 17422552 - 17422552 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	224	41
HIPK2	28996	broad.mit.edu	37	7	139416452	139416452	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139416452T>G	ENST00000406875.3	-	2	476	c.382A>C	c.(382-384)Aaa>Caa	p.K128Q	HIPK2_ENST00000342645.6_Missense_Mutation_p.K128Q|HIPK2_ENST00000428878.2_Missense_Mutation_p.K128Q	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	128	Transcriptional corepression (By similarity).				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					AGTCCACATTTTTGGTAGGTA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	84	90			NA	NA	7		NA											NA				139416452		1568	3582	5150	SO:0001583	missense			AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393	28996	28996			14402	protein-coding gene	gene with protein product		606868	homeodomain-interacting protein kinase 2		NA	11120354	Standard	NM_022740	NM_001113239	NA	Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.382A>C	7.37:g.139416452T>G	ENSP00000385571:p.Lys128Gln	NA	Q75MR7|Q8WWI4|Q9H2Y1	37		.	.	.	.	.	.	.	.	.	.	T	20.3	3.959497	0.74016	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.51817	0.69;0.72;0.7	5.28	5.28	0.74379	.	.	.	.	.	T	0.38374	0.1038	.	.	.	0.44254	D	0.997109	P;P	0.39665	0.682;0.59	B;B	0.33690	0.115;0.168	T	0.27839	-1.0062	8	0.39692	T	0.17	.	15.2194	0.73299	0.0:0.0:0.0:1.0	.	128;128	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	Q	128	ENSP00000385571:K128Q;ENSP00000413724:K128Q;ENSP00000343108:K128Q	ENSP00000343108:K128Q	K	-	1	0	HIPK2	139062938	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.346000	0.65992	1.987000	0.57996	0.460000	0.39030	AAA	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000349430.3		-	ENST00000406875.3	Missense_Mutation	SNP	7 : 139416452 - 139416452 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	191	24
USP53	54532	broad.mit.edu	37	4	120190845	120190845	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120190845G>A	ENST00000274030.6	+	15	2467		c.e15-1		USP53_ENST00000450251.1_Splice_Site	NM_019050.2	NP_061923.2	Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	NA					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TTCTTTTACAGCTAAGTTAAG	0.259		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	60	60			NA	NA	4		NA											NA				120190845		1796	4054	5850	SO:0001630	splice_region_variant			BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390	54532	54532		Ubiquitin-specific peptidases	29255	protein-coding gene	gene with protein product			ubiquitin specific protease 53		NA	10718198, 14715245	Standard	XM_052597	NM_019050	NA	Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.1289-1G>A	4.37:g.120190845G>A		NA	Q68DA5|Q8WVQ5|Q9P2J7	37	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816201	0.70912	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5008	0.87731	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	USP53	120410293	1.000000	0.71417	0.716000	0.30569	0.937000	0.57800	7.366000	0.79548	2.567000	0.86603	0.561000	0.74099	.	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364564.2	Intron	+	ENST00000274030.6	Splice_Site	SNP	4 : 120190845 - 120190845 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	64
KLHL10	317719	broad.mit.edu	37	17	40001975	40001975	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40001975G>A	ENST00000293303.4	+	3	1435	c.1282G>A	c.(1282-1284)Gcc>Acc	p.A428T		NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	428						cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				TGATGCAAGCGCCACAACACT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	50	50			NA	NA	17		NA											NA				40001975		2110	4230	6340	SO:0001583	missense			AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594	317719	317719		Kelch-like, BTB/POZ domain containing	18829	protein-coding gene	gene with protein product		608778	kelch-like 10 (Drosophila)		NA		Standard	NM_152467	NM_152467	NA	Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.1282G>A	17.37:g.40001975G>A	ENSP00000293303:p.Ala428Thr	NA	Q6NW28|Q96MC0	37	CCDS42340.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248200	0.80024	.	.	ENSG00000161594	ENST00000293303	T	0.80214	-1.35	6.07	6.07	0.98685	Galactose oxidase, beta-propeller (1);	0.202592	0.50627	D	0.000103	D	0.88108	0.6348	M	0.71296	2.17	0.51767	D	0.999933	D;D	0.71674	0.989;0.998	P;P	0.60415	0.627;0.874	D	0.86624	0.1881	9	.	.	.	.	19.2231	0.93806	0.0:0.0:1.0:0.0	.	422;428	B4DXV2;Q6JEL2	.;KLH10_HUMAN	T	428	ENSP00000293303:A428T	.	A	+	1	0	KLHL10	37255501	1.000000	0.71417	0.996000	0.52242	0.739000	0.42172	3.880000	0.56145	2.885000	0.99019	0.655000	0.94253	GCC	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326535.1		+	ENST00000293303.4	Missense_Mutation	SNP	17 : 40001975 - 40001975 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	279	50
TSSK6	83983	broad.mit.edu	37	19	19626064	19626064	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19626064G>A	ENST00000360913.3	-	1	774	c.173C>T	c.(172-174)cCg>cTg	p.P58L	TSSK6_ENST00000585580.3_Missense_Mutation_p.P58L			Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	58	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						CAGCTCTCGCGGCAGGAACTT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	53	55			NA	NA	19		NA											NA				19626064		2203	4300	6503	SO:0001583	missense			AK172841	CCDS12403.1	19p13.11	2009-03-12				ENSG00000178093	83983	83983			30410	protein-coding gene	gene with protein product	cancer/testis antigen 72	610712			NA	15044604	Standard	NM_032037	NM_032037	NA	Approved	SSTK, FLJ24002, CT72	uc002nmr.3	Q9BXA6		ENST00000360913.3:c.173C>T	19.37:g.19626064G>A	ENSP00000354168:p.Pro58Leu	NA	B2R9F8|Q6ZMC4|Q96LJ4	37	CCDS12403.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.725415	0.89298	.	.	ENSG00000178093	ENST00000360913	T	0.20069	2.1	4.96	4.96	0.65561	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.41396	U	0.000886	T	0.20129	0.0484	N	0.10782	0.045	0.80722	D	1	P	0.51057	0.941	P	0.54060	0.741	T	0.05920	-1.0856	10	0.36615	T	0.2	.	13.7493	0.62897	0.0:0.0:1.0:0.0	.	58	Q9BXA6	TSSK6_HUMAN	L	58	ENSP00000354168:P58L	ENSP00000354168:P58L	P	-	2	0	TSSK6	19487064	1.000000	0.71417	0.985000	0.45067	0.937000	0.57800	4.371000	0.59523	2.324000	0.78689	0.306000	0.20318	CCG	TSSK6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459733.3		-	ENST00000360913.3	Missense_Mutation	SNP	19 : 19626064 - 19626064 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	365	73
ARHGAP21	57584	broad.mit.edu	37	10	24880606	24880606	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24880606A>C	ENST00000396432.2	-	23	4495	c.4009T>G	c.(4009-4011)Tgg>Ggg	p.W1337G	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.W1124G	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1336	Rho-GAP.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTGAAAAACCAGTCATGCTAA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	81	80			NA	NA	10		NA											NA				24880606		2203	4300	6503	SO:0001583	missense			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863	57584	57584		Rho GTPase activating proteins, Pleckstrin homology (PH) domain containing	23725	protein-coding gene	gene with protein product		609870			NA	12056806	Standard	NM_020824	NM_020824	NA	Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.4009T>G	10.37:g.24880606A>C	ENSP00000379709:p.Trp1337Gly	NA	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	37	CCDS7144.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.44|15.44	2.833261|2.833261	0.50951|0.50951	.|.	.|.	ENSG00000107863|ENSG00000107863	ENST00000418033|ENST00000396432;ENST00000447364;ENST00000320481	.|T;T	.|0.11169	.|2.8;2.8	5.43|5.43	4.3|4.3	0.51218|0.51218	.|Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	.|0.123729	.|0.64402	.|D	.|0.000015	T|T	0.35128|0.35128	0.0921|0.0921	M|M	0.85373|0.85373	2.75|2.75	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.15549|0.15549	-1.0433|-1.0433	5|10	.|0.62326	.|D	.|0.03	.|.	11.3975|11.3975	0.49851|0.49851	0.9288:0.0:0.0711:0.0|0.9288:0.0:0.0711:0.0	.|.	.|1336	.|Q5T5U3	.|RHG21_HUMAN	R|G	150|1337;786;1124	.|ENSP00000379709:W1337G;ENSP00000365604:W1124G	.|ENSP00000365604:W1124G	L|W	-|-	2|1	0|0	ARHGAP21|ARHGAP21	24920612|24920612	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.670000|8.670000	0.91168|0.91168	1.010000|1.010000	0.39314|0.39314	0.460000|0.460000	0.39030|0.39030	CTG|TGG	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047229.4		-	ENST00000396432.2	Missense_Mutation	SNP	10 : 24880606 - 24880606 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	483	77
FBN1	2200	broad.mit.edu	37	15	48720570	48720570	+	Missense_Mutation	SNP	C	C	T	rs148831709		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48720570C>T	ENST00000316623.5	-	57	7425	c.6970G>A	c.(6970-6972)Gcc>Acc	p.A2324T		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2324	EGF-like 40; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTGGGGCTGGCGGTAAACCCA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	THR/ALA	0,4396		0,0,2198	129	92	105		6970	2.8	0.4	15	dbSNP_134	105	1,8591	1.2+/-3.3	0,1,4295	no	missense	FBN1	NM_000138.4	58	0,1,6493	TT,TC,CC	NA	0.0116,0.0,0.0077	benign	2324/2872	48720570	1,12987	2198	4296	6494	SO:0001583	missense			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147	2200	2200			3603	protein-coding gene	gene with protein product	Marfan syndrome	134797	fibrillin 1 (Marfan syndrome)	FBN, MFS1, WMS	NA	10036187, 12525539	Standard		NM_000138	NA	Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.6970G>A	15.37:g.48720570C>T	ENSP00000325527:p.Ala2324Thr	NA	B2RUU0|Q15972|Q75N87	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.590464	0.28357	0.0	1.16E-4	ENSG00000166147	ENST00000316623;ENST00000389087	D	0.91996	-2.95	5.76	2.81	0.32909	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.202371	0.51477	D	0.000092	D	0.85017	0.5601	N	0.21448	0.665	0.80722	D	1	B	0.21381	0.055	B	0.14578	0.011	T	0.75393	-0.3333	10	0.12766	T	0.61	.	16.8327	0.85949	0.0:0.6384:0.3616:0.0	.	2324	P35555	FBN1_HUMAN	T	2324;892	ENSP00000325527:A2324T	ENSP00000325527:A2324T	A	-	1	0	FBN1	46507862	0.078000	0.21339	0.390000	0.26220	0.652000	0.38707	0.390000	0.20768	0.335000	0.23614	0.555000	0.69702	GCC	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417355.1		-	ENST00000316623.5	Missense_Mutation	SNP	15 : 48720570 - 48720570 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	24
ANKRD11	29123	broad.mit.edu	37	16	89341273	89341273	+	Silent	SNP	G	G	T	rs139657234		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89341273G>T	ENST00000301030.4	-	11	8122	c.7662C>A	c.(7660-7662)gcC>gcA	p.A2554A	ANKRD11_ENST00000378330.2_Silent_p.A2554A	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2554						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCATCGTGCAGGCGCTGAATG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	60	61			NA	NA	16		NA											NA				89341273		2198	4300	6498	SO:0001819	synonymous_variant			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522	29123	29123		Ankyrin repeat domain containing	21316	protein-coding gene	gene with protein product		611192			NA	11483580	Standard	NM_013275	NM_001256182	NA	Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.7662C>A	16.37:g.89341273G>T		NA	Q6NTG1|Q6QMF8	37	CCDS32513.1																																																																																			ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000430462.3		-	ENST00000301030.4	Silent	SNP	16 : 89341273 - 89341273 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	445	16
RBM7	10179	broad.mit.edu	37	11	114278261	114278261	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:114278261G>A	ENST00000540163.1	+	5	1175	c.533G>A	c.(532-534)aGt>aAt	p.S178N	RBM7_ENST00000541475.1_3'UTR|RP11-212D19.4_ENST00000544347.1_Intron|RBM7_ENST00000375490.5_Missense_Mutation_p.S179N|RBM7_ENST00000545678.1_Missense_Mutation_p.S58N|RBM7_ENST00000544582.1_Intron			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	178					meiosis		nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		CAATCACACAGTCATAGTTTC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	117	120			NA	NA	11		NA											NA				114278261		2201	4296	6497	SO:0001583	missense			AF156098	CCDS8370.1, CCDS66233.1, CCDS73395.1	11q23.1-q23.2	2013-02-12			ENSG00000076053	ENSG00000076053	10179	10179		RNA binding motif (RRM) containing	9904	protein-coding gene	gene with protein product		612413			NA	12477932	Standard	NM_016090	NM_001286045	NA	Approved		uc001pov.3	Q9Y580		ENST00000540163.1:c.533G>A	11.37:g.114278261G>A	ENSP00000439918:p.Ser178Asn	NA	B2R6K8|Q9NUT4	37	CCDS8370.1	.	.	.	.	.	.	.	.	.	.	G	2.582	-0.297191	0.05532	.	.	ENSG00000076053	ENST00000540163;ENST00000375490;ENST00000545678	T;T	0.28666	1.6;2.56	5.75	-3.26	0.05064	.	0.953562	0.08863	N	0.882799	T	0.14700	0.0355	N	0.14661	0.345	0.18873	N	0.999982	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36817	-0.9732	10	0.13853	T	0.58	-8.5023	9.279	0.37716	0.2992:0.1276:0.5733:0.0	.	178;178	Q6IRX3;Q9Y580	.;RBM7_HUMAN	N	178;179;58	ENSP00000439918:S178N;ENSP00000364639:S179N	ENSP00000364639:S179N	S	+	2	0	RBM7	113783471	0.122000	0.22280	0.380000	0.26093	0.198000	0.23893	0.087000	0.14958	-0.502000	0.06596	-1.078000	0.02229	AGT	RBM7-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399010.1		+	ENST00000540163.1	Missense_Mutation	SNP	11 : 114278261 - 114278261 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	702	125
PRPS1L1	221823	broad.mit.edu	37	7	18066654	18066654	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18066654C>A	ENST00000506618.2	-	1	832	c.752G>T	c.(751-753)gGa>gTa	p.G251V		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	251					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					AGAAAAGATTCCATGAGTCAA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	103	103			NA	NA	7		NA											NA				18066654		2200	4300	6500	SO:0001583	missense			M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937	221823	221823			9463	protein-coding gene	gene with protein product		611566		PRPSL	NA	2168892	Standard	NM_175886	NM_175886	NA	Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.752G>T	7.37:g.18066654C>A	ENSP00000424595:p.Gly251Val	NA	Q6P5P6	37	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757981	0.49468	.	.	ENSG00000229937	ENST00000506618	D	0.82893	-1.66	4.44	4.44	0.53790	.	.	.	.	.	D	0.94696	0.8289	H	0.98754	4.32	.	.	.	D	0.89917	1.0	D	0.97110	1.0	D	0.96343	0.9252	8	0.66056	D	0.02	.	14.9557	0.71110	0.0:1.0:0.0:0.0	.	251	P21108	PRPS3_HUMAN	V	251	ENSP00000424595:G251V	ENSP00000424595:G251V	G	-	2	0	PRPS1L1	18033179	1.000000	0.71417	0.845000	0.33349	0.246000	0.25737	7.115000	0.77110	2.482000	0.83794	0.650000	0.86243	GGA	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327667.1		-	ENST00000506618.2	Missense_Mutation	SNP	7 : 18066654 - 18066654 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	513	84
PCDHGA11	56105	broad.mit.edu	37	5	140802413	140802413	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140802413A>G	ENST00000398587.2	+	1	1652	c.1619A>G	c.(1618-1620)gAc>gGc	p.D540G	PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.D540G	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1			protocadherin gamma subfamily A, 11	NA										breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAGCGGGGACCCGCCCCTC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	158	151			NA	NA	5		NA											NA				140802413		2203	4300	6503	SO:0001583	missense			AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873	56105	56105		Cadherins / Protocadherins : Clustered	8698	other	protocadherin		606298			NA	10380929	Standard	NM_018914	NM_018914	NA	Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.1619A>G	5.37:g.140802413A>G	ENSP00000381589:p.Asp540Gly	NA		37	CCDS47294.1	.	.	.	.	.	.	.	.	.	.	a	7.478	0.648163	0.14516	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	T;T	0.49432	0.78;0.78	5.72	4.5	0.54988	Cadherin (4);Cadherin-like (1);	1.020620	0.07964	U	0.982835	T	0.36413	0.0966	N	0.16602	0.42	0.23356	N	0.997842	B;B;B	0.26876	0.071;0.162;0.036	B;B;B	0.28638	0.068;0.092;0.087	T	0.27191	-1.0081	10	0.66056	D	0.02	.	11.175	0.48595	0.6659:0.3341:0.0:0.0	.	540;540;540	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	G	540	ENSP00000381589:D540G;ENSP00000428333:D540G	ENSP00000381589:D540G	D	+	2	0	PCDHGA11	140782597	0.003000	0.15002	0.684000	0.30055	0.018000	0.09664	2.131000	0.42074	2.189000	0.69895	0.533000	0.62120	GAC	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376974.1		+	ENST00000398587.2	Missense_Mutation	SNP	5 : 140802413 - 140802413 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1202	247
ARFGEF1	10565	broad.mit.edu	37	8	68117025	68117025	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68117025G>A	ENST00000262215.3	-	35	5238	c.4849C>T	c.(4849-4851)Ctg>Ttg	p.L1617L	ARFGEF1_ENST00000520381.1_Silent_p.L1071L|ARFGEF1_ENST00000518230.1_Silent_p.L455L	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1617					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTAATCAACAGGGCAGCAAAC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	88	91			NA	NA	8		NA											NA				68117025		2203	4300	6503	SO:0001819	synonymous_variant			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777	10565	10565			15772	protein-coding gene	gene with protein product		604141			NA	10212200, 8917509	Standard	NM_006421	NM_006421	NA	Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4849C>T	8.37:g.68117025G>A		NA	Q9NV46|Q9UFV2|Q9UNL0	37	CCDS6199.1																																																																																			ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379441.4		-	ENST00000262215.3	Silent	SNP	8 : 68117025 - 68117025 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	566	86
C1orf51	0	broad.mit.edu	37	1	150255695	150255695	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150255695C>T	ENST00000290363.5	+	1	467	c.18C>T	c.(16-18)agC>agT	p.S6S	C1orf51_ENST00000469255.1_3'UTR|C1orf51_ENST00000369095.1_Silent_p.S6S|C1orf51_ENST00000369094.1_Intron	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN		6	Ser-rich.									endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCCATCTAGCGTTTCTTCCT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													227	215	219			NA	NA	1		NA											NA				150255695		2203	4298	6501	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000290363.5:c.18C>T	1.37:g.150255695C>T		NA	B2RD43|D3DV01|Q8N795|Q96MG6	37	CCDS949.1																																																																																			C1orf51-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000035058.1		+	ENST00000290363.5	Silent	SNP	1 : 150255695 - 150255695 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1364	340
GEMIN4	50628	broad.mit.edu	37	17	650235	650235	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:650235C>T	ENST00000437269.1	-	0	817				GEMIN4_ENST00000576778.1_Missense_Mutation_p.D339N|GEMIN4_ENST00000319004.5_Missense_Mutation_p.D350N			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	NA					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GTCAGACTGTCGCACAGCCGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ASN/ASP	2,4246		0,2,2122	64	69	67		1048	5	1	17		67	0,8454		0,0,4227	no	missense	GEMIN4	NM_015721.2	23	0,2,6349	TT,TC,CC	NA	0.0,0.0471,0.0157	probably-damaging	350/1059	650235	2,12700	2124	4227	6351	SO:0001624	3_prime_UTR_variant			AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409	50628	50628			15717	protein-coding gene	gene with protein product	HCC-associated protein 1, component of gems 4	606969			NA	10725331	Standard	NM_015721	NM_015721	NA	Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000437269.1:c.*231G>A	17.37:g.650235C>T		NA	Q9NZS7|Q9UG32|Q9Y4Q2	37		.	.	.	.	.	.	.	.	.	.	C	11.87	1.769060	0.31320	4.71E-4	0.0	ENSG00000179409	ENST00000319004	T	0.17854	2.25	5.95	4.99	0.66335	.	0.163861	0.53938	D	0.000060	T	0.19127	0.0459	M	0.64997	1.995	0.80722	D	1	B	0.20261	0.043	B	0.19391	0.025	T	0.02758	-1.1114	10	0.45353	T	0.12	-22.2074	9.6685	0.39998	0.0:0.7851:0.1413:0.0736	.	350	P57678	GEMI4_HUMAN	N	350	ENSP00000321706:D350N	ENSP00000321706:D350N	D	-	1	0	GEMIN4	596985	0.973000	0.33851	1.000000	0.80357	0.353000	0.29299	2.408000	0.44574	1.527000	0.49086	0.563000	0.77884	GAC	GEMIN4-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000437183.1		-	ENST00000437269.1	3'UTR	SNP	17 : 650235 - 650235 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	446	96
ZNF385D	79750	broad.mit.edu	37	3	21462878	21462878	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:21462878G>A	ENST00000281523.2	-	8	1534	c.1016C>T	c.(1015-1017)cCt>cTt	p.P339L		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	339						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						agctgctAGAGGATTTGGTAG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	42	41			NA	NA	3		NA											NA				21462878		2203	4300	6503	SO:0001583	missense			BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789	79750	79750			26191	protein-coding gene	gene with protein product			zinc finger protein 659	ZNF659	NA	12477932	Standard	NM_024697	NM_024697	NA	Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.1016C>T	3.37:g.21462878G>A	ENSP00000281523:p.Pro339Leu	NA		37	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232462	0.39498	.	.	ENSG00000151789	ENST00000281523	T	0.36340	1.26	6.08	6.08	0.98989	.	0.206063	0.46442	D	0.000292	T	0.37812	0.1017	L	0.45352	1.415	0.49130	D	0.999759	B	0.21225	0.053	B	0.16722	0.016	T	0.11275	-1.0594	10	0.87932	D	0	-23.679	20.6593	0.99626	0.0:0.0:1.0:0.0	.	339	Q9H6B1	Z385D_HUMAN	L	339	ENSP00000281523:P339L	ENSP00000281523:P339L	P	-	2	0	ZNF385D	21437882	0.998000	0.40836	0.243000	0.24186	0.238000	0.25445	2.679000	0.46909	2.887000	0.99086	0.650000	0.86243	CCT	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252884.1		-	ENST00000281523.2	Missense_Mutation	SNP	3 : 21462878 - 21462878 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	183	19
CD109	135228	broad.mit.edu	37	6	74497138	74497138	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74497138C>T	ENST00000287097.5	+	21	2631	c.2519C>T	c.(2518-2520)aCt>aTt	p.T840I	CD109_ENST00000422508.2_Missense_Mutation_p.T763I|CD109_ENST00000437994.2_Missense_Mutation_p.T840I			Q6YHK3	CD109_HUMAN	CD109 molecule	840						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTTTCACCCACTGCTTCTGAT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	103	104			NA	NA	6		NA											NA				74497138		2203	4300	6503	SO:0001583	missense			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535	135228	135228		CD molecules	21685	protein-coding gene	gene with protein product		608859	CD109 antigen (Gov platelet alloantigens)		NA	11861284, 11861285	Standard	NM_133493	XM_005248659	NA	Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.2519C>T	6.37:g.74497138C>T	ENSP00000287097:p.Thr840Ile	NA	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	37	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	C	4.359	0.066072	0.08388	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.21734	1.99;2.2;1.99	5.45	-2.97	0.05530	.	1.575850	0.04485	U	0.378552	T	0.03520	0.0101	L	0.28014	0.82	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.0	B;B;B	0.19391	0.004;0.025;0.002	T	0.38001	-0.9681	10	0.21014	T	0.42	.	2.6389	0.04965	0.0932:0.2575:0.2987:0.3506	.	763;840;840	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	I	840;763;840	ENSP00000388062:T840I;ENSP00000404475:T763I;ENSP00000287097:T840I	ENSP00000287097:T840I	T	+	2	0	CD109	74553859	0.001000	0.12720	0.089000	0.20774	0.724000	0.41520	-0.157000	0.10085	-0.433000	0.07286	0.650000	0.86243	ACT	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041230.3		+	ENST00000287097.5	Missense_Mutation	SNP	6 : 74497138 - 74497138 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	473	68
PTPRF	5792	broad.mit.edu	37	1	44071037	44071037	+	Silent	SNP	G	G	A	rs149446507		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44071037G>A	ENST00000359947.4	+	18	3652	c.3312G>A	c.(3310-3312)ccG>ccA	p.P1104P	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Silent_p.P1104P|PTPRF_ENST00000422171.2_Silent_p.P452P|PTPRF_ENST00000372413.3_Silent_p.P1095P|PTPRF_ENST00000438120.1_Silent_p.P1095P	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1104					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTCACAAGCCGCTGCCTGCCT	0.637		NA											g	1	5e-04	NA	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	EXOME	NA	NA	4e-04	SNP								NA				0								A	,	1,4405	2.1+/-5.4	0,1,2202	47	51	50		3312,3285	-10.6	0	1	dbSNP_134	50	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PTPRF	NM_002840.3,NM_130440.2	,	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	,	1104/1908,1095/1899	44071037	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949	5792	5792		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	9670	protein-coding gene	gene with protein product		179590		LAR	NA	7558042	Standard		NM_130440	NA	Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3312G>A	1.37:g.44071037G>A		NA	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	37	CCDS489.2	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	g|g	1.624|1.624	-0.520643|-0.520643	0.04171|0.04171	2.27E-4|2.27E-4	0.0|0.0	ENSG00000142949|ENSG00000142949	ENST00000412568;ENST00000414879|ENST00000429895	.|.	.|.	.|.	5.31|5.31	-10.6|-10.6	0.00265|0.00265	.|.	.|.	.|.	.|.	.|.	T|T	0.39627|0.39627	0.1085|0.1085	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.46484|0.46484	-0.9188|-0.9188	4|4	.|.	.|.	.|.	.|.	4.2496|4.2496	0.10688|0.10688	0.5499:0.158:0.1774:0.1148|0.5499:0.158:0.1774:0.1148	.|.	.|.	.|.	.|.	T|H	477;518|750	.|.	.|.	A|R	+|+	1|2	0|0	PTPRF|PTPRF	43843624|43843624	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.287000|0.287000	0.27160|0.27160	-1.888000|-1.888000	0.01616|0.01616	-2.539000|-2.539000	0.00486|0.00486	-1.290000|-1.290000	0.01357|0.01357	GCT|CGC	PTPRF-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019710.1		+	ENST00000359947.4	Silent	SNP	1 : 44071037 - 44071037 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	392	42
TTN	7273	broad.mit.edu	37	2	179478614	179478614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179478614C>T	ENST00000589042.1	-	263	49620	c.49396G>A	c.(49396-49398)Gca>Aca	p.A16466T	TTN_ENST00000591111.1_Missense_Mutation_p.A14825T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A7526T|TTN_ENST00000460472.2_Missense_Mutation_p.A7401T|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A13898T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A7593T|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14825	Fibronectin type-III 19.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAGTCACTGCGTCTTTAGTG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	166	167			NA	NA	2		NA											NA				179478614		1964	4169	6133	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.49396G>A	2.37:g.179478614C>T	ENSP00000467141:p.Ala16466Thr	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660471	0.47572	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	6.07	5.15	0.70609	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35799	0.0944	N	0.11106	0.095	0.45502	D	0.998463	P;P;P;P	0.49862	0.929;0.929;0.929;0.929	B;B;B;B	0.42361	0.385;0.385;0.385;0.385	T	0.37220	-0.9715	9	0.87932	D	0	.	12.6162	0.56578	0.3127:0.6873:0.0:0.0	.	7401;7526;7593;14825	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	13898;7401;7593;7526;7401	ENSP00000343764:A13898T;ENSP00000434586:A7401T;ENSP00000340554:A7593T;ENSP00000352154:A7526T	ENSP00000340554:A7593T	A	-	1	0	TTN	179186859	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.200000	0.42724	2.885000	0.99019	0.655000	0.94253	GCA	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179478614 - 179478614 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	737	186
KMT2C	58508	broad.mit.edu	37	7	151878356	151878356	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151878356G>A	ENST00000262189.6	-	36	6807	c.6589C>T	c.(6589-6591)Cag>Tag	p.Q2197*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q2197*	NM_170606.2	NP_733751.2			lysine (K)-specific methyltransferase 2C	NA								p.Q2197*(1)			NA						GAATGCCTCTGATTTGTTACA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Nonsense(1)	central_nervous_system(1)											101	94	97			NA	NA	7		NA											NA				151878356		2203	4300	6503	SO:0001587	stop_gained			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609	58508	58508		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	13726	protein-coding gene	gene with protein product		606833	myeloid/lymphoid or mixed-lineage leukemia 3	MLL3	NA	10819331	Standard		XM_005250026	NA	Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6589C>T	7.37:g.151878356G>A	ENSP00000262189:p.Gln2197*	NA		37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	47	13.240273	0.99729	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.37	5.37	0.77165	.	0.165964	0.28109	N	0.016568	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	19.4763	0.94991	0.0:0.0:1.0:0.0	.	.	.	.	X	2197	.	ENSP00000262189:Q2197X	Q	-	1	0	MLL3	151509289	1.000000	0.71417	0.701000	0.30321	0.278000	0.26855	5.413000	0.66399	2.677000	0.91161	0.655000	0.94253	CAG	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318887.3		-	ENST00000262189.6	Nonsense_Mutation	SNP	7 : 151878356 - 151878356 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	280	9
TSPAN9	10867	broad.mit.edu	37	12	3387723	3387723	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3387723C>T	ENST00000011898.5	+	4	361	c.200C>T	c.(199-201)aCg>aTg	p.T67M	TSPAN9_ENST00000492305.1_3'UTR|TSPAN9_ENST00000407263.1_Missense_Mutation_p.T67M|TSPAN9_ENST00000537971.1_Missense_Mutation_p.T67M	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	67						integral to plasma membrane|membrane fraction				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			GTCATGGTGACGGGCTTCCTC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	114	119			NA	NA	12		NA											NA				3387723		2203	4300	6503	SO:0001583	missense			AF089749	CCDS8520.1	12p13.33-p13.32	2013-02-14			ENSG00000011105	ENSG00000011105	10867	10867		Tetraspanins	21640	protein-coding gene	gene with protein product		613137			NA	10719184, 11739647	Standard	NM_006675	NM_006675	NA	Approved	NET-5	uc021qtd.1	O75954	OTTHUMG00000150333	ENST00000011898.5:c.200C>T	12.37:g.3387723C>T	ENSP00000011898:p.Thr67Met	NA	D3DUQ7|Q53FV2|Q6FGJ8	37	CCDS8520.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805945	0.70682	.	.	ENSG00000011105	ENST00000537971;ENST00000011898;ENST00000407263	T;T;T	0.79653	-1.29;-1.29;-1.29	4.98	4.98	0.66077	Tetraspanin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.84611	0.5510	L	0.38838	1.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.77557	0.99	D	0.84440	0.0582	10	0.41790	T	0.15	.	15.7621	0.78091	0.0:1.0:0.0:0.0	.	67	O75954	TSN9_HUMAN	M	67	ENSP00000444799:T67M;ENSP00000011898:T67M;ENSP00000384488:T67M	ENSP00000011898:T67M	T	+	2	0	TSPAN9	3257984	1.000000	0.71417	0.999000	0.59377	0.900000	0.52787	4.985000	0.63845	2.314000	0.78098	0.561000	0.74099	ACG	TSPAN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317606.2		+	ENST00000011898.5	Missense_Mutation	SNP	12 : 3387723 - 3387723 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	530	94
DOCK2	1794	broad.mit.edu	37	5	169116331	169116331	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169116331C>A	ENST00000256935.8	+	9	917	c.837C>A	c.(835-837)gtC>gtA	p.V279V		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	279					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAAGGTGGTCTTCACGGTGA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	126	134			NA	NA	5		NA											NA				169116331		2203	4300	6503	SO:0001819	synonymous_variant			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516	1794	1794			2988	protein-coding gene	gene with protein product		603122	dedicator of cyto-kinesis 2		NA		Standard	NM_004946	NM_004946	NA	Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.837C>A	5.37:g.169116331C>A		NA	Q2M3I0|Q96AK7	37	CCDS4371.1																																																																																			DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252828.2		+	ENST00000256935.8	Silent	SNP	5 : 169116331 - 169116331 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	240	45
TTN	7273	broad.mit.edu	37	2	179395508	179395508	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179395508C>T	ENST00000589042.1	-	358	106058	c.105834G>A	c.(105832-105834)caG>caA	p.Q35278Q	TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000591111.1_Silent_p.Q33637Q|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.Q26338Q|TTN-AS1_ENST00000587944.1_RNA|TTN_ENST00000460472.2_Silent_p.Q26213Q|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN_ENST00000342992.6_Silent_p.Q32710Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342175.6_Silent_p.Q26405Q|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33637							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGGAGGTGCTGAACTTTCT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	137	138			NA	NA	2		NA											NA				179395508		1933	4119	6052	SO:0001819	synonymous_variant			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.105834G>A	2.37:g.179395508C>T		NA	E7ET18	37	CCDS59435.1																																																																																			TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Silent	SNP	2 : 179395508 - 179395508 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	232	11
SACS	26278	broad.mit.edu	37	13	23911291	23911291	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23911291C>T	ENST00000382292.3	-	9	6997	c.6724G>A	c.(6724-6726)Gca>Aca	p.A2242T	SACS_ENST00000402364.1_Missense_Mutation_p.A1492T|SACS_ENST00000382298.3_Missense_Mutation_p.A2242T			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2242					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGGTCAGTTGCTGCAAACATG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	65	65			NA	NA	13		NA											NA				23911291		2202	4299	6501	SO:0001583	missense			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835	26278	26278		Heat shock proteins / DNAJ (HSP40)	10519	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 138	604490	spastic ataxia of Charlevoix-Saguenay (sacsin)		NA	10610707, 15057823, 21726565	Standard	NM_014363	NM_001278055	NA	Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.6724G>A	13.37:g.23911291C>T	ENSP00000371729:p.Ala2242Thr	NA	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995804	0.74703	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88509	-2.24;-2.39;-2.24	5.75	5.75	0.90469	.	0.055383	0.64402	D	0.000001	D	0.92100	0.7496	M	0.61703	1.905	0.48696	D	0.999694	D	0.59357	0.985	P	0.53518	0.728	D	0.92488	0.5998	10	0.87932	D	0	.	19.949	0.97192	0.0:1.0:0.0:0.0	.	2242	Q9NZJ4	SACS_HUMAN	T	2242;1492;2242	ENSP00000371729:A2242T;ENSP00000385844:A1492T;ENSP00000371735:A2242T	ENSP00000371729:A2242T	A	-	1	0	SACS	22809291	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.584000	0.67490	2.706000	0.92434	0.655000	0.94253	GCA	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044148.3		-	ENST00000382292.3	Missense_Mutation	SNP	13 : 23911291 - 23911291 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	311	58
PRSS16	10279	broad.mit.edu	37	6	27222472	27222472	+	Splice_Site	SNP	A	A	G	rs145885657		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27222472A>G	ENST00000230582.3	+	10	1166	c.1151A>G	c.(1150-1152)tAt>tGt	p.Y384C	PRSS16_ENST00000421826.2_Splice_Site_p.Y127C|PRSS16_ENST00000377456.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	384					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCCTACACAGATGTCACCTGT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(178;1118 2105 17078 23587 44429)							NA				0													115	108	111			NA	NA	6		NA											NA				27222472		2203	4300	6503	SO:0001630	splice_region_variant			AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812	10279	10279		Serine peptidases / Serine peptidases	9480	protein-coding gene	gene with protein product		607169			NA	10527559	Standard		NM_005865	NA	Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.1151-1A>G	6.37:g.27222472A>G		NA	O75416	37	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	A	4.065	0.009916	0.07912	.	.	ENSG00000112812	ENST00000421826;ENST00000230582	T;T	0.17854	2.25;2.25	4.68	4.68	0.58851	.	0.253691	0.41097	D	0.000956	T	0.19967	0.0480	M	0.78285	2.405	0.48452	D	0.999651	D;P	0.53745	0.962;0.654	P;B	0.51701	0.677;0.24	T	0.01512	-1.1336	10	0.40728	T	0.16	.	10.7158	0.46011	1.0:0.0:0.0:0.0	.	127;384	F2Z2N5;Q9NQE7	.;TSSP_HUMAN	C	127;384	ENSP00000404349:Y127C;ENSP00000230582:Y384C	ENSP00000230582:Y384C	Y	+	2	0	PRSS16	27330451	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.570000	0.45981	2.106000	0.64143	0.455000	0.32223	TAT	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043418.2	Missense_Mutation	+	ENST00000230582.3	Splice_Site	SNP	6 : 27222472 - 27222472 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	714	114
ZRSR2	8233	broad.mit.edu	37	X	15827333	15827333	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15827333G>A	ENST00000307771.7	+	7	473	c.449G>A	c.(448-450)gGt>gAt	p.G150D		NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	150					spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					TTGGAAAATGGTACCACATGG	0.378		NA	F, S, Mis		MDS, CLL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(197;1631 3042 5741 31152)		Rec	yes		X	Xp22.1	8233	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2		L	0													112	102	106			NA	NA	X		NA											NA				15827333		2203	4300	6503	SO:0001583	missense			BC050451	CCDS14172.1	Xp22.1	2014-09-17	2006-09-26	2006-09-26	ENSG00000169249	ENSG00000169249	8233	8233		Zinc fingers, CCCH-type domain containing, RNA binding motif (RRM) containing	23019	protein-coding gene	gene with protein product		300028	U2(RNU2) small nuclear RNA auxiliary factor 1-like 2, U2 small nuclear RNA auxiliary factor 1-like 2	U2AF1L2	NA	8586425, 9237760, 15146077	Standard	NM_005089	NM_005089	NA	Approved	U2AF1-RS2, URP	uc004cxg.4	Q15696	OTTHUMG00000021184	ENST00000307771.7:c.449G>A	X.37:g.15827333G>A	ENSP00000303015:p.Gly150Asp	NA	Q14D69	37	CCDS14172.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378601	0.61735	.	.	ENSG00000169249	ENST00000307771	D	0.85955	-2.05	5.31	3.44	0.39384	.	0.322273	0.37219	N	0.002193	D	0.86859	0.6034	M	0.69358	2.11	0.80722	D	1	D	0.59357	0.985	P	0.51945	0.685	D	0.84916	0.0851	10	0.46703	T	0.11	.	11.3939	0.49830	0.0:0.1333:0.725:0.1417	.	150	Q15696	U2AFM_HUMAN	D	150	ENSP00000303015:G150D	ENSP00000303015:G150D	G	+	2	0	ZRSR2	15737254	1.000000	0.71417	0.035000	0.18076	0.985000	0.73830	5.920000	0.70017	0.475000	0.27415	0.594000	0.82650	GGT	ZRSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055889.1		+	ENST00000307771.7	Missense_Mutation	SNP	X : 15827333 - 15827333 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	546	153
AREL1	9870	broad.mit.edu	37	14	75130641	75130641	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75130641G>A	ENST00000356357.4	-	19	2845	c.2330C>T	c.(2329-2331)gCc>gTc	p.A777V	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1	NA											NA						GGTCGGAGCGGCAATAATCTG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	139	136			NA	NA	14		NA											NA				75130641		2156	4273	6429	SO:0001583	missense			AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682	9870	9870			20363	protein-coding gene	gene with protein product		615380	KIAA0317	KIAA0317	NA	9205841, 23479728	Standard	NM_014821	XM_006720344	NA	Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.2330C>T	14.37:g.75130641G>A	ENSP00000348714:p.Ala777Val	NA		37	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700186	0.88924	.	.	ENSG00000119682	ENST00000356357;ENST00000543377;ENST00000556202	T;T	0.57436	0.4;0.4	5.73	5.73	0.89815	HECT (4);	0.045635	0.85682	D	0.000000	T	0.53351	0.1791	L	0.41124	1.26	0.80722	D	1	P	0.37688	0.605	P	0.44921	0.464	T	0.54057	-0.8350	10	0.54805	T	0.06	.	15.3969	0.74801	0.0:0.1386:0.8614:0.0	.	777	O15033	K0317_HUMAN	V	777;616;616	ENSP00000348714:A777V;ENSP00000452101:A616V	ENSP00000348714:A777V	A	-	2	0	KIAA0317	74200394	1.000000	0.71417	0.917000	0.36280	0.956000	0.61745	5.548000	0.67255	2.711000	0.92665	0.650000	0.86243	GCC	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335517.2		-	ENST00000356357.4	Missense_Mutation	SNP	14 : 75130641 - 75130641 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	648	39
LAPTM5	7805	broad.mit.edu	37	1	31208047	31208047	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31208047C>A	ENST00000294507.3	-	7	746	c.672G>T	c.(670-672)gaG>gaT	p.E224D		NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	224					transport	integral to plasma membrane|lysosomal membrane				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		AGTTTCTCTTCTCCTCCACCG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													314	273	287			NA	NA	1		NA											NA				31208047		2203	4300	6503	SO:0001583	missense			U51240	CCDS337.1	1p34	2009-07-20	2009-07-20		ENSG00000162511	ENSG00000162511	7805	7805			29612	protein-coding gene	gene with protein product		601476	lysosomal multispanning membrane protein 5		NA	8661146, 12527926	Standard	NM_006762	NM_006762	NA	Approved		uc001bsc.2	Q13571	OTTHUMG00000003707	ENST00000294507.3:c.672G>T	1.37:g.31208047C>A	ENSP00000294507:p.Glu224Asp	NA	Q13240|Q14698|Q3KP54	37	CCDS337.1	.	.	.	.	.	.	.	.	.	.	C	7.208	0.594858	0.13875	.	.	ENSG00000162511	ENST00000294507;ENST00000424259	T	0.48522	0.81	5.7	0.173	0.15036	.	0.836425	0.10819	N	0.630715	T	0.32071	0.0817	L	0.33485	1.01	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.23013	-1.0200	10	0.26408	T	0.33	-1.0306	6.6261	0.22830	0.0:0.3532:0.4728:0.1741	.	224	Q13571	LAPM5_HUMAN	D	224	ENSP00000294507:E224D	ENSP00000294507:E224D	E	-	3	2	LAPTM5	30980634	0.005000	0.15991	0.001000	0.08648	0.000000	0.00434	0.306000	0.19279	0.321000	0.23259	-0.844000	0.03045	GAG	LAPTM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000010463.1		-	ENST00000294507.3	Missense_Mutation	SNP	1 : 31208047 - 31208047 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1133	111
ARHGAP33	115703	broad.mit.edu	37	19	36278174	36278174	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36278174G>A	ENST00000378944.5	+	20	2753	c.2299G>A	c.(2299-2301)Gcc>Acc	p.A767T	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.A742T|ARHGAP33_ENST00000007510.4_Missense_Mutation_p.A903T	NM_001172630.1	NP_001166101.1	O14559	RHG33_HUMAN	Rho GTPase activating protein 33	903					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CATGGCCCTGGCCCTGGCTGA	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	26	24			NA	NA	19		NA											NA				36278174		2195	4283	6478	SO:0001583	missense			AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777	115703	115703		Rho GTPase activating proteins	23085	protein-coding gene	gene with protein product		614902	sorting nexin 26	SNX26	NA	12297274, 12461558	Standard	NM_052948	NM_052948	NA	Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000378944.5:c.2299G>A	19.37:g.36278174G>A	ENSP00000368227:p.Ala767Thr	NA	O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	37	CCDS54254.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316283	0.60524	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.27557	1.78;1.66;2.01	4.91	3.84	0.44239	.	0.314786	0.24016	N	0.042336	T	0.31482	0.0798	L	0.58101	1.795	0.32584	N	0.528092	B;B;B	0.18461	0.028;0.021;0.021	B;B;B	0.18561	0.016;0.022;0.015	T	0.40459	-0.9562	10	0.59425	D	0.04	.	12.694	0.56992	0.0:0.3178:0.6822:0.0	.	903;767;742	O14559;O14559-10;O14559-11	RHG33_HUMAN;.;.	T	903;742;767	ENSP00000007510:A903T;ENSP00000320038:A742T;ENSP00000368227:A767T	ENSP00000007510:A903T	A	+	1	0	ARHGAP33	40970014	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.237000	0.58681	0.996000	0.38943	0.462000	0.41574	GCC	ARHGAP33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459118.1		+	ENST00000378944.5	Missense_Mutation	SNP	19 : 36278174 - 36278174 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	71
ARHGEF11	9826	broad.mit.edu	37	1	156928923	156928923	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156928923G>A	ENST00000368194.3	-	16	2333	c.1294C>T	c.(1294-1296)Cgg>Tgg	p.R432W	ARHGEF11_ENST00000361409.2_Missense_Mutation_p.R392W	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	392	RGSL.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCGCTGTTCCGCAGGCGCGAG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	61	65			NA	NA	1		NA											NA				156928923		2203	4300	6503	SO:0001583	missense			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694	9826	9826		Rho guanine nucleotide exchange factors	14580	protein-coding gene	gene with protein product		605708			NA	10526156, 9205841	Standard	NM_198236	NM_014784	NA	Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000368194.3:c.1294C>T	1.37:g.156928923G>A	ENSP00000357177:p.Arg432Trp	NA	D3DVD0|Q5VY40	37	CCDS1163.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.456397	0.43634	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	D;D	0.82803	-1.65;-1.65	4.69	3.78	0.43462	Regulator of G protein signalling (2);Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.000000	0.50627	D	0.000108	T	0.80649	0.4663	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.984	T	0.80393	-0.1401	10	0.38643	T	0.18	-19.5508	11.0799	0.48053	0.0875:0.0:0.9125:0.0	.	392;432	O15085;O15085-2	ARHGB_HUMAN;.	W	432;392	ENSP00000357177:R432W;ENSP00000354644:R392W	ENSP00000354644:R392W	R	-	1	2	ARHGEF11	155195547	1.000000	0.71417	0.810000	0.32431	0.027000	0.11550	7.354000	0.79424	1.204000	0.43247	0.491000	0.48974	CGG	ARHGEF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000098930.1		-	ENST00000368194.3	Missense_Mutation	SNP	1 : 156928923 - 156928923 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	194	43
ANKRD9	122416	broad.mit.edu	37	14	102974022	102974022	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102974022C>T	ENST00000286918.4	-	4	801	c.205G>A	c.(205-207)Gcc>Acc	p.A69T	ANKRD9_ENST00000559651.1_Missense_Mutation_p.A69T|ANKRD9_ENST00000560748.1_Missense_Mutation_p.A69T	NM_152326.2	NP_689539.1	Q96BM1	ANKR9_HUMAN	ankyrin repeat domain 9	69										pancreas(1)|skin(1)	2						GGCGAGTAGGCGGCGGCGCGC	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													6	7	7			NA	NA	14		NA											NA				102974022		1928	3806	5734	SO:0001583	missense			BC015422	CCDS9973.1	14q32.33	2013-01-11				ENSG00000156381	NA	122416		Ankyrin repeat domain containing	20096	protein-coding gene	gene with protein product					NA		Standard		NM_152326	NA	Approved		uc001ylz.1	Q96BM1		ENST00000286918.4:c.205G>A	14.37:g.102974022C>T	ENSP00000286918:p.Ala69Thr	NA	A8K753	37	CCDS9973.1	.	.	.	.	.	.	.	.	.	.	C	8.521	0.868827	0.17322	.	.	ENSG00000156381	ENST00000286918	D	0.87029	-2.2	3.7	1.26	0.21427	.	0.358652	0.28016	U	0.016922	T	0.57562	0.2062	N	0.02539	-0.55	0.29704	N	0.839951	B	0.12630	0.006	B	0.09377	0.004	T	0.52961	-0.8505	10	0.02654	T	1	-18.6369	0.8062	0.01084	0.1896:0.359:0.1902:0.2612	.	69	Q96BM1	ANKR9_HUMAN	T	69	ENSP00000286918:A69T	ENSP00000286918:A69T	A	-	1	0	ANKRD9	102043775	0.880000	0.30214	0.993000	0.49108	0.836000	0.47400	0.460000	0.21924	0.532000	0.28657	0.478000	0.44815	GCC	ANKRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415057.1		-	ENST00000286918.4	Missense_Mutation	SNP	14 : 102974022 - 102974022 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	85	18
PRUNE2	158471	broad.mit.edu	37	9	79325119	79325119	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79325119G>T	ENST00000376718.3	-	8	2194	c.2071C>A	c.(2071-2073)Cca>Aca	p.P691T	PRUNE2_ENST00000428286.1_Missense_Mutation_p.P332T	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	691					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATGGAGCTTGGCTTATGCTCT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	42	43			NA	NA	9		NA											NA				79325119		1568	3582	5150	SO:0001583	missense			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772	158471	158471			25209	protein-coding gene	gene with protein product	olfaxin	610691	chromosome 9 open reading frame 65, KIAA0367	C9orf65, KIAA0367	NA	16288218	Standard	NM_138818	NM_015225	NA	Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.2071C>A	9.37:g.79325119G>T	ENSP00000365908:p.Pro691Thr	NA	B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	37	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.007|0.007	-2.011002|-2.011002	0.00422|0.00422	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.21361	.|2.01;2.01	5.86|5.86	1.57|1.57	0.23409|0.23409	.|.	.|0.269957	.|0.26867	.|N	.|0.022094	T|T	0.10981|0.10981	0.0268|0.0268	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.18967|0.18967	-1.0320|-1.0320	5|10	.|0.29301	.|T	.|0.29	-4.4713|-4.4713	1.4712|1.4712	0.02416|0.02416	0.1602:0.3388:0.2185:0.2825|0.1602:0.3388:0.2185:0.2825	.|.	.|691	.|Q8WUY3	.|PRUN2_HUMAN	D|T	12|691;332;690	.|ENSP00000365908:P691T;ENSP00000397425:P332T	.|ENSP00000365908:P691T	A|P	-|-	2|1	0|0	PRUNE2|PRUNE2	78514939|78514939	0.715000|0.715000	0.27946|0.27946	0.757000|0.757000	0.31301|0.31301	0.159000|0.159000	0.22180|0.22180	-0.008000|-0.008000	0.12788|0.12788	0.313000|0.313000	0.23062|0.23062	-1.251000|-1.251000	0.01509|0.01509	GCC|CCA	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052730.2		-	ENST00000376718.3	Missense_Mutation	SNP	9 : 79325119 - 79325119 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	155	31
PPOX	5498	broad.mit.edu	37	1	161140296	161140296	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161140296G>A	ENST00000367999.4	+	10	1351	c.1085G>A	c.(1084-1086)gGc>gAc	p.G362D	PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000352210.5_Missense_Mutation_p.G362D|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000432542.2_Missense_Mutation_p.G107D|PPOX_ENST00000535223.1_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	362					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGCCCCCCTGGCCTCAGAGTG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CI992582	PPOX	I							83	84	84			NA	NA	1		NA											NA				161140296		2203	4300	6503	SO:0001583	missense			BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	5498	5498	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	variegate porphyria	VP	NA	8575762, 10457135	Standard	NM_000309	NM_000309	NA	Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.1085G>A	1.37:g.161140296G>A	ENSP00000356978:p.Gly362Asp	NA	D3DVG0|Q5VTW8	37	CCDS1221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.11|13.11	2.140231|2.140231	0.37825|0.37825	.|.	.|.	ENSG00000143224|ENSG00000143224	ENST00000537523;ENST00000537829|ENST00000352210;ENST00000367999;ENST00000435935;ENST00000432542	.|D;D;D	.|0.94280	.|-3.13;-3.13;-3.39	5.42|5.42	4.51|4.51	0.55191|0.55191	.|Amine oxidase (1);	.|0.289920	.|0.38272	.|N	.|0.001745	D|D	0.91586|0.91586	0.7342|0.7342	L|L	0.41710|0.41710	1.295|1.295	0.34783|0.34783	D|D	0.734969|0.734969	.|B;B;P;B	.|0.42409	.|0.023;0.147;0.779;0.348	.|B;P;P;P	.|0.58970	.|0.046;0.546;0.849;0.694	D|D	0.91807|0.91807	0.5456|0.5456	5|10	.|0.51188	.|T	.|0.08	5.9863|5.9863	10.12|10.12	0.42614|0.42614	0.09:0.0:0.91:0.0|0.09:0.0:0.91:0.0	.|.	.|107;33;200;362	.|B4DQQ7;Q96SE3;B3KT30;P50336	.|.;.;.;PPOX_HUMAN	T|D	115;85|362;362;329;107	.|ENSP00000343943:G362D;ENSP00000356978:G362D;ENSP00000396841:G107D	.|ENSP00000343943:G362D	A|G	+|+	1|2	0|0	PPOX|PPOX	159406920|159406920	0.997000|0.997000	0.39634|0.39634	0.997000|0.997000	0.53966|0.53966	0.799000|0.799000	0.45148|0.45148	2.632000|2.632000	0.46511|0.46511	1.524000|1.524000	0.49035|0.49035	-0.157000|-0.157000	0.13467|0.13467	GCC|GGC	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000082993.1		+	ENST00000367999.4	Missense_Mutation	SNP	1 : 161140296 - 161140296 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	435	107
PREX1	57580	broad.mit.edu	37	20	47269916	47269916	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47269916G>A	ENST00000371941.3	-	20	2351	c.2329C>T	c.(2329-2331)Cgg>Tgg	p.R777W	PREX1_ENST00000396220.1_Missense_Mutation_p.R777W	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	777					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TCTTCGCGCCGACTCCGGAAT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	84	86	85		2329	3	0.2	20		85	0,8600		0,0,4300	no	missense	PREX1	NM_020820.3	101	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging	777/1660	47269916	1,13005	2203	4300	6503	SO:0001583	missense			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126	57580	57580		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	32594	protein-coding gene	gene with protein product		606905			NA	11955434, 15545267, 16301320	Standard	NM_020820	NM_020820	NA	Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.2329C>T	20.37:g.47269916G>A	ENSP00000361009:p.Arg777Trp	NA	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709441	0.48517	2.27E-4	0.0	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.38560	1.13;1.13	5.12	2.95	0.34219	PDZ/DHR/GLGF (1);	1.252740	0.06178	U	0.678964	T	0.49609	0.1567	L	0.42245	1.32	0.22142	N	0.999336	P;D	0.63046	0.918;0.992	B;P	0.52710	0.368;0.707	T	0.46735	-0.9170	10	0.87932	D	0	.	11.6856	0.51483	0.0:0.0:0.6956:0.3044	.	777;74	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	W	777	ENSP00000361009:R777W;ENSP00000379522:R777W	ENSP00000361009:R777W	R	-	1	2	PREX1	46703323	0.578000	0.26717	0.188000	0.23233	0.355000	0.29361	1.778000	0.38614	2.386000	0.81285	0.462000	0.41574	CGG	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079623.1		-	ENST00000371941.3	Missense_Mutation	SNP	20 : 47269916 - 47269916 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	815	140
GABRG3	2567	broad.mit.edu	37	15	27572106	27572106	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27572106G>A	ENST00000333743.6	+	4	675	c.421G>A	c.(421-423)Gct>Act	p.A141T	GABRG3_ENST00000555083.1_Missense_Mutation_p.A141T	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	141					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		AACCGCAGAGGCTCACTGGAT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(114;800 1656 7410 37729 45293)							NA				0													87	87	87			NA	NA	15		NA											NA				27572106		1992	4183	6175	SO:0001583	missense				CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256	2567	2567		GABA receptors, Ligand-gated ion channels / GABA(A) receptors	4088	protein-coding gene	gene with protein product	GABA(G) receptor, gamma 3	600233			NA	7601451	Standard		NM_033223	NA	Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.421G>A	15.37:g.27572106G>A	ENSP00000331912:p.Ala141Thr	NA	Q9HD46|Q9NYT2	37	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822371	0.71028	.	.	ENSG00000182256	ENST00000333743;ENST00000555083;ENST00000554696	T;T;T	0.77620	-1.11;-1.11;-1.11	5.79	5.79	0.91817	Neurotransmitter-gated ion-channel ligand-binding (3);	0.053250	0.85682	D	0.000000	D	0.84674	0.5524	L	0.60455	1.87	0.41409	D	0.987727	P;P	0.41978	0.767;0.725	P;P	0.54431	0.752;0.611	D	0.84862	0.0820	10	0.62326	D	0.03	.	19.0355	0.92976	0.0:0.0:1.0:0.0	.	141;141	Q99928;G3V594	GBRG3_HUMAN;.	T	141;141;83	ENSP00000331912:A141T;ENSP00000452244:A141T;ENSP00000451862:A83T	ENSP00000331912:A141T	A	+	1	0	GABRG3	25154852	1.000000	0.71417	0.995000	0.50966	0.517000	0.34286	4.933000	0.63484	2.722000	0.93159	0.655000	0.94253	GCT	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000103584.2		+	ENST00000333743.6	Missense_Mutation	SNP	15 : 27572106 - 27572106 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	304	63
CHSY3	337876	broad.mit.edu	37	5	129521060	129521060	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:129521060A>G	ENST00000305031.4	+	3	2583	c.2225A>G	c.(2224-2226)tAc>tGc	p.Y742C		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	742						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CAACAGGTGTACTATCCCATC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	110	113			NA	NA	5		NA											NA				129521060		2203	4300	6503	SO:0001583	missense			AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	337876	337876	2.4.1.175, 2.4.1.226	Beta 3-glycosyltransferases, Beta 4-glycosyltransferases	24293	protein-coding gene	gene with protein product		609963			NA	12907687	Standard	NM_175856	XM_005271982	NA	Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.2225A>G	5.37:g.129521060A>G	ENSP00000302629:p.Tyr742Cys	NA	B2RP97|Q76L22|Q86Y52	37	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.932410	0.52866	.	.	ENSG00000198108	ENST00000305031	T	0.26957	1.7	4.33	4.33	0.51752	.	0.000000	0.48286	D	0.000198	T	0.56601	0.1996	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65565	-0.6137	9	.	.	.	-3.2014	14.5729	0.68224	1.0:0.0:0.0:0.0	.	742	Q70JA7	CHSS3_HUMAN	C	742	ENSP00000302629:Y742C	.	Y	+	2	0	CHSY3	129548959	1.000000	0.71417	0.977000	0.42913	0.913000	0.54294	9.087000	0.94110	2.171000	0.68590	0.528000	0.53228	TAC	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000371453.1		+	ENST00000305031.4	Missense_Mutation	SNP	5 : 129521060 - 129521060 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	606	115
API5	8539	broad.mit.edu	37	11	43357578	43357578	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43357578G>T	ENST00000534600.1	+	13	1558	c.1526G>T	c.(1525-1527)aGa>aTa	p.R509I	API5_ENST00000531273.1_Intron|API5_ENST00000529334.1_Intron|API5_ENST00000420461.2_Intron|API5_ENST00000534695.1_Intron|RP11-484D2.2_ENST00000526220.1_RNA|API5_ENST00000378852.3_Intron|API5_ENST00000455725.2_Intron			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	509					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						AGGAATATGAGAGATTAGGCA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(1;98 122 5625 20895 49453)							NA				0													70	70	70			NA	NA	11		NA											NA				43357578		2203	4300	6503	SO:0001583	missense			U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181	8539	8539			594	protein-coding gene	gene with protein product	API5-like 1, fibroblast growth factor 2-interacting factor 2, migration-inducing protein MIG8	609774			NA	9307294	Standard	NM_006595	NR_024625	NA	Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000534600.1:c.1526G>T	11.37:g.43357578G>T	ENSP00000434462:p.Arg509Ile	NA	D3DR21|O15441|Q9Y4J7	37		.	.	.	.	.	.	.	.	.	.	G	12.64	1.998040	0.35226	.	.	ENSG00000166181	ENST00000534600	T	0.23147	1.92	5.6	2.75	0.32379	.	.	.	.	.	T	0.15609	0.0376	.	.	.	0.09310	N	1	B	0.25955	0.138	B	0.25884	0.064	T	0.29971	-0.9994	7	.	.	.	.	7.5235	0.27641	0.3369:0.0:0.6631:0.0	.	509	G3V1C3	.	I	509	ENSP00000434462:R509I	.	R	+	2	0	API5	43314154	0.000000	0.05858	0.003000	0.11579	0.020000	0.10135	0.029000	0.13666	0.332000	0.23536	-0.145000	0.13849	AGA	API5-005	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000389554.2		+	ENST00000534600.1	Missense_Mutation	SNP	11 : 43357578 - 43357578 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	609	127
RFX6	222546	broad.mit.edu	37	6	117199106	117199106	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117199106C>T	ENST00000332958.2	+	2	387	c.371C>T	c.(370-372)aCg>aTg	p.T124M		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	124					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						ACACAGCTCACGCTGCAGTGG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	57	59			NA	NA	6		NA											NA				117199106		2203	4300	6503	SO:0001583	missense			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002	222546	222546			21478	protein-coding gene	gene with protein product		612659	regulatory factor X domain containing 1	RFXDC1	NA		Standard	NM_173560	NM_173560	NA	Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.371C>T	6.37:g.117199106C>T	ENSP00000332208:p.Thr124Met	NA	Q5T6B3	37	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704563	0.88924	.	.	ENSG00000185002	ENST00000332958	D	0.83419	-1.72	5.36	4.47	0.54385	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.000000	0.56097	D	0.000029	D	0.88145	0.6358	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88648	0.3180	10	0.87932	D	0	-17.2098	14.6252	0.68616	0.0:0.9287:0.0:0.0713	.	124	Q8HWS3	RFX6_HUMAN	M	124	ENSP00000332208:T124M	ENSP00000332208:T124M	T	+	2	0	RFX6	117305799	1.000000	0.71417	0.983000	0.44433	0.995000	0.86356	5.142000	0.64820	2.789000	0.95967	0.591000	0.81541	ACG	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041970.2		+	ENST00000332958.2	Missense_Mutation	SNP	6 : 117199106 - 117199106 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	229	39
DDHD2	23259	broad.mit.edu	37	8	38105252	38105252	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38105252G>T	ENST00000397166.2	+	10	1672	c.1147G>T	c.(1147-1149)Gat>Tat	p.D383Y	DDHD2_ENST00000520272.2_Missense_Mutation_p.D383Y|DDHD2_ENST00000517385.1_Missense_Mutation_p.D2Y|DDHD2_ENST00000528888.1_3'UTR	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	383					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			TATTGTAATGGATCAAGGAGA	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	63	62			NA	NA	8		NA											NA				38105252		2203	4295	6498	SO:0001583	missense			AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07			23259	23259		Sterile alpha motif (SAM) domain containing	29106	protein-coding gene	gene with protein product		615003	SAM, WWE and DDHD domain containing 1	SAMWD1	NA	9872452, 11788596, 19632984, 20932832	Standard	XM_291291	NM_015214	NA	Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.1147G>T	8.37:g.38105252G>T	ENSP00000380352:p.Asp383Tyr	NA	B3KWV2|Q9H8X7	37	CCDS34883.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360789	0.61403	.	.	ENSG00000085788	ENST00000397166;ENST00000520272;ENST00000440212;ENST00000517385	T;T	0.33438	1.41;1.41	5.88	5.88	0.94601	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (1);	0.876669	0.10238	N	0.698732	T	0.29458	0.0734	L	0.50333	1.59	0.80722	D	1	B;B	0.26041	0.14;0.028	B;B	0.26770	0.073;0.015	T	0.14952	-1.0454	10	0.02654	T	1	-3.7601	15.7372	0.77853	0.0:0.0:1.0:0.0	.	195;383	B4DSR3;O94830	.;DDHD2_HUMAN	Y	383;383;195;2	ENSP00000380352:D383Y;ENSP00000429932:D383Y	ENSP00000380352:D383Y	D	+	1	0	DDHD2	38224409	1.000000	0.71417	0.888000	0.34837	0.932000	0.56968	6.196000	0.72094	2.788000	0.95919	0.555000	0.69702	GAT	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377251.2		+	ENST00000397166.2	Missense_Mutation	SNP	8 : 38105252 - 38105252 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	343	49
TEX35	84066	broad.mit.edu	37	1	178489945	178489945	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178489945C>T	ENST00000367641.3	+	7	538	c.479C>T	c.(478-480)aCg>aTg	p.T160M	TEX35_ENST00000258298.2_Missense_Mutation_p.T84M|TEX35_ENST00000367639.1_Missense_Mutation_p.T168M|TEX35_ENST00000367642.3_3'UTR|TEX35_ENST00000367643.3_Missense_Mutation_p.T160M|TEX35_ENST00000319416.2_Missense_Mutation_p.T160M					testis expressed 35	NA											NA						CACAAGAAGACGATGGCACCA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	80	81			NA	NA	1		NA											NA				178489945		2203	4300	6503	SO:0001583	missense			AL136694	CCDS1323.1, CCDS53433.1, CCDS53434.1	1q25.2	2014-01-28	2012-06-29	2012-06-29	ENSG00000240021	ENSG00000240021	84066	84066			25366	protein-coding gene	gene with protein product	Testis-Specific Conserved gene 24kDa		chromosome 1 open reading frame 49	C1orf49	NA	11230166, 17077512	Standard	NM_032126	NM_032126	NA	Approved	DKFZP564J047, TSC24	uc001glt.2	Q5T0J7	OTTHUMG00000035023	ENST00000367641.3:c.479C>T	1.37:g.178489945C>T	ENSP00000356613:p.Thr160Met	NA		37		.	.	.	.	.	.	.	.	.	.	C	7.044	0.563165	0.13498	.	.	ENSG00000240021	ENST00000319416;ENST00000258298;ENST00000367643;ENST00000367641;ENST00000367639	T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31	4.09	-8.18	0.01053	.	2.124760	0.01894	N	0.038781	T	0.07773	0.0195	N	0.19112	0.55	0.09310	N	1	B;B;B	0.20887	0.049;0.049;0.049	B;B;B	0.11329	0.006;0.006;0.006	T	0.19549	-1.0302	10	0.25106	T	0.35	0.302	1.0225	0.01521	0.3358:0.132:0.1119:0.4203	.	168;160;160	Q5T0J7-2;Q5T0J7-3;Q5T0J7	.;.;CA049_HUMAN	M	160;84;160;160;168	ENSP00000323795:T160M;ENSP00000258298:T84M;ENSP00000356615:T160M;ENSP00000356613:T160M;ENSP00000356611:T168M	ENSP00000258298:T84M	T	+	2	0	C1orf49	176756568	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.723000	0.01866	-1.638000	0.01529	0.536000	0.68110	ACG	TEX35-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000084918.1		+	ENST00000367641.3	Missense_Mutation	SNP	1 : 178489945 - 178489945 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	301	61
CPO	130749	broad.mit.edu	37	2	207824388	207824388	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207824388C>T	ENST00000272852.3	+	5	452	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	136					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CTCAAGTATACGCAAGCTCCT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	126	127			NA	NA	2		NA											NA				207824388		2203	4300	6503	SO:0001583	missense				CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410	130749	130749			21011	protein-coding gene	gene with protein product	metallocarboxypeptidase O, metallocarboxypeptidase C	609563			NA	11836249	Standard	NM_173077	NM_173077	NA	Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.406C>T	2.37:g.207824388C>T	ENSP00000272852:p.Arg136Cys	NA	Q2M277|Q7RTW7	37	CCDS2372.1	.	.	.	.	.	.	.	.	.	.	C	9.071	0.996849	0.19043	.	.	ENSG00000144410	ENST00000272852	T	0.11712	2.75	5.03	-0.188	0.13264	Peptidase M14, carboxypeptidase A (2);	0.831951	0.11639	N	0.544001	T	0.18467	0.0443	M	0.85542	2.76	0.09310	N	1	D	0.61697	0.99	P	0.47376	0.545	T	0.11891	-1.0569	10	0.66056	D	0.02	.	4.8295	0.13432	0.4353:0.3095:0.2552:0.0	.	136	Q8IVL8	CBPO_HUMAN	C	136	ENSP00000272852:R136C	ENSP00000272852:R136C	R	+	1	0	CPO	207532633	0.000000	0.05858	0.004000	0.12327	0.035000	0.12851	0.373000	0.20484	-0.165000	0.10908	-0.397000	0.06425	CGC	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000202040.2		+	ENST00000272852.3	Missense_Mutation	SNP	2 : 207824388 - 207824388 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	360	40
SLC44A5	204962	broad.mit.edu	37	1	75683626	75683626	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75683626C>T	ENST00000370855.5	-	18	1662	c.1549G>A	c.(1549-1551)Gca>Aca	p.A517T	SLC44A5_ENST00000535611.1_Missense_Mutation_p.A387T|SLC44A5_ENST00000370859.3_Missense_Mutation_p.A517T	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	517						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.A517S(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GATCCAAATGCTAGGGATCCT	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											49	53	52			NA	NA	1		NA											NA				75683626		2203	4299	6502	SO:0001583	missense			BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968	204962	204962		Solute carriers	28524	protein-coding gene	gene with protein product					NA	15715662	Standard	NM_152697	NM_152697	NA	Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1549G>A	1.37:g.75683626C>T	ENSP00000359892:p.Ala517Thr	NA	B5MCU3|Q4G0K0|Q8NA44|Q8NB86	37	CCDS667.1	.	.	.	.	.	.	.	.	.	.	C	34	5.341665	0.95783	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.30182	1.54;1.54;1.54	5.93	5.93	0.95920	.	0.105434	0.64402	D	0.000004	T	0.64940	0.2644	H	0.94345	3.525	0.80722	D	1	D;D;D;D;D	0.76494	0.996;0.999;0.999;0.997;0.999	D;D;D;D;D	0.80764	0.993;0.994;0.993;0.974;0.99	T	0.73401	-0.3994	10	0.62326	D	0.03	-18.1034	20.3261	0.98701	0.0:1.0:0.0:0.0	.	511;556;517;517;556	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	T	517;556;517;387;510	ENSP00000359896:A517T;ENSP00000359892:A517T;ENSP00000443090:A387T	ENSP00000359892:A517T	A	-	1	0	SLC44A5	75456214	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.461000	0.80834	2.814000	0.96858	0.655000	0.94253	GCA	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026921.1		-	ENST00000370855.5	Missense_Mutation	SNP	1 : 75683626 - 75683626 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	182	36
CATSPER1	117144	broad.mit.edu	37	11	65790401	65790401	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65790401C>T	ENST00000312106.5	-	2	1485	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	450					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						ATGAAAGTTTCAAAGGCCAAG	0.537		NA									OREG0021092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	107	108			NA	NA	11		NA											NA				65790401		2201	4296	6497	SO:0001583	missense			AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294	117144	117144		Voltage-gated ion channels / Cation channels, sperm associated	17116	protein-coding gene	gene with protein product		606389			NA	11675491, 11595941, 16382101	Standard	NM_053054	NM_053054	NA	Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.1348G>A	11.37:g.65790401C>T	ENSP00000309052:p.Glu450Lys	1086	Q96P76	37	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423332	0.83559	.	.	ENSG00000175294	ENST00000312106	D	0.97642	-4.47	5.62	4.71	0.59529	.	0.000000	0.33272	N	0.005097	D	0.95834	0.8644	L	0.47190	1.495	0.28563	N	0.911045	P	0.37573	0.6	P	0.45343	0.477	D	0.92427	0.5950	10	0.44086	T	0.13	-18.6629	11.9808	0.53119	0.1731:0.8269:0.0:0.0	.	450	Q8NEC5	CTSR1_HUMAN	K	450	ENSP00000309052:E450K	ENSP00000309052:E450K	E	-	1	0	CATSPER1	65546977	1.000000	0.71417	0.138000	0.22173	0.034000	0.12701	3.104000	0.50306	1.372000	0.46190	0.563000	0.77884	GAA	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391055.1		-	ENST00000312106.5	Missense_Mutation	SNP	11 : 65790401 - 65790401 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	508	36
C12orf42	374470	broad.mit.edu	37	12	103696338	103696338	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:103696338C>T	ENST00000548048.1	-	9	927		c.e9-1		C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548883.1_Splice_Site|C12orf42_ENST00000378113.2_Splice_Site			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	NA										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						GCGGCAGAACCTGGAAGGCAA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	25	24			NA	NA	12		NA											NA				103696338		1981	4151	6132	SO:0001630	splice_region_variant			AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088	374470	374470			24729	protein-coding gene	gene with protein product					NA		Standard	NM_198521	NM_001099336	NA	Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000548048.1:c.431-1G>A	12.37:g.103696338C>T		NA	Q49A64|Q4G0S2	37		.	.	.	.	.	.	.	.	.	.	C	14.57	2.574459	0.45902	.	.	ENSG00000179088	ENST00000548883;ENST00000548048;ENST00000378113	.	.	.	4.24	3.35	0.38373	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.7242	0.18004	0.1933:0.7017:0.0:0.105	.	.	.	.	.	-1	.	.	.	-	.	.	C12orf42	102220468	0.971000	0.33674	0.849000	0.33467	0.259000	0.26198	1.384000	0.34396	1.075000	0.40932	0.561000	0.74099	.	C12orf42-003	PUTATIVE	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000406947.1	Intron	-	ENST00000548048.1	Splice_Site	SNP	12 : 103696338 - 103696338 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	309	47
SLFN5	162394	broad.mit.edu	37	17	33591403	33591403	+	Missense_Mutation	SNP	A	A	C	rs138507199	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33591403A>C	ENST00000542451.1	+	4	1251				SLFN5_ENST00000299977.4_Missense_Mutation_p.N447T			Q08AF3	SLFN5_HUMAN	schlafen family member 5	NA					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		ATTTCCCAGAACAACACCCCT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	118	119			NA	NA	17		NA											NA				33591403		2203	4300	6503	SO:0001627	intron_variant			BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750	162394	162394			28286	protein-coding gene	gene with protein product		614952			NA	9846487	Standard	NM_144975	NM_144975	NA	Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000542451.1:c.1139-688A>C	17.37:g.33591403A>C		NA	Q08AF2|Q8WU54|Q96A82	37		.	.	.	.	.	.	.	.	.	.	a	12.40	1.926981	0.34002	.	.	ENSG00000166750	ENST00000299977	T	0.02369	4.32	3.46	3.46	0.39613	.	0.332867	0.21783	N	0.069164	T	0.05318	0.0141	M	0.78049	2.395	0.25796	N	0.984569	P	0.37781	0.608	B	0.36534	0.227	T	0.15578	-1.0432	10	0.87932	D	0	.	8.5002	0.33152	1.0:0.0:0.0:0.0	.	447	Q08AF3	SLFN5_HUMAN	T	447	ENSP00000299977:N447T	ENSP00000299977:N447T	N	+	2	0	SLFN5	30615516	0.000000	0.05858	0.049000	0.19019	0.978000	0.69477	0.471000	0.22100	1.579000	0.49836	0.533000	0.62120	AAC	SLFN5-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000448650.1		+	ENST00000542451.1	Intron	SNP	17 : 33591403 - 33591403 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	372	80
ZFP69	339559	broad.mit.edu	37	1	40960960	40960960	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40960960C>A	ENST00000372706.1	+	6	1816	c.810C>A	c.(808-810)acC>acA	p.T270T	ZFP69_ENST00000372705.3_Silent_p.T270T|RP11-656D10.3_ENST00000450713.1_RNA					ZFP69 zinc finger protein	NA											NA						GAACAAAAACCTATGAATGTA	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	44	43			NA	NA	1		NA											NA				40960960		2202	4299	6501	SO:0001819	synonymous_variant			AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815	339559	339559		Zinc fingers, C2H2-type, -, -, -	24708	protein-coding gene	gene with protein product	ZFP69 zinc finger protein A		zinc finger protein 642	ZNF642	NA		Standard	NM_198494	XM_005270808	NA	Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.810C>A	1.37:g.40960960C>A		NA		37	CCDS30686.1																																																																																			ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019082.1		+	ENST00000372706.1	Silent	SNP	1 : 40960960 - 40960960 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	216	30
STRADA	92335	broad.mit.edu	37	17	61781939	61781939	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61781939G>A	ENST00000582137.1	-	9	874	c.775C>T	c.(775-777)Ctg>Ttg	p.L259L	STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000375840.4_Silent_p.L230L|STRADA_ENST00000392950.4_Silent_p.L251L|STRADA_ENST00000245865.5_3'UTR|STRADA_ENST00000336174.6_Silent_p.L288L|STRADA_ENST00000447001.3_Silent_p.L244L|STRADA_ENST00000579340.1_Silent_p.C172C|RP11-51F16.8_ENST00000580553.1_3'UTR			Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	288	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						TTCTCTAGCAGCATCTGGGGA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	41	40			NA	NA	17		NA											NA				61781939		2203	4299	6502	SO:0001819	synonymous_variant			AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173	92335	92335			30172	protein-coding gene	gene with protein product	STE20-like pseudokinase	608626			NA	12805220, 17921699	Standard		NM_153335	NA	Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000582137.1:c.775C>T	17.37:g.61781939G>A		NA	Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	37	CCDS58585.1																																																																																			STRADA-006	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443897.1		-	ENST00000582137.1	Silent	SNP	17 : 61781939 - 61781939 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	328	64
NEB	4703	broad.mit.edu	37	2	152419185	152419185	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152419185C>T	ENST00000604864.1	-	118	18830	c.18831G>A	c.(18829-18831)acG>acA	p.T6277T	NEB_ENST00000172853.10_Silent_p.T4576T|NEB_ENST00000397345.3_Silent_p.T6277T|NEB_ENST00000603639.1_Silent_p.T6277T|NEB_ENST00000409198.1_Silent_p.T4576T|NEB_ENST00000427231.2_Silent_p.T6277T			P20929	NEBU_HUMAN	nebulin	6286					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCAGAAGAGACGTCCACTGGT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,	1,4051		0,1,2025	127	120	122		18831,18831,13728	-11.5	0	2		122	0,8330		0,0,4165	no	coding-synonymous,coding-synonymous,coding-synonymous	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	,,	0,1,6190	TT,TC,CC	NA	0.0,0.0247,0.0081	,,	6277/8526,6277/8526,4576/6670	152419185	1,12381	2026	4165	6191	SO:0001819	synonymous_variant			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091	4703	4703			7720	protein-coding gene	gene with protein product	nemaline myopathy type 2	161650		NEM2	NA	10051637, 9359044	Standard	NM_004543	NM_001164507	NA	Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000604864.1:c.18831G>A	2.37:g.152419185C>T		NA	Q15346|Q53QQ2|Q53TG8	37	CCDS54408.1																																																																																			NEB-018	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000469063.1		-	ENST00000604864.1	Silent	SNP	2 : 152419185 - 152419185 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	92	13
DNM2	1785	broad.mit.edu	37	19	10934554	10934554	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10934554C>T	ENST00000359692.6	+	16	2010	c.1860C>T	c.(1858-1860)ggC>ggT	p.G620G	DNM2_ENST00000314646.5_Silent_p.G624G|DNM2_ENST00000355667.6_Silent_p.G624G|DNM2_ENST00000585892.1_Silent_p.G624G|DNM2_ENST00000408974.4_Silent_p.G620G|DNM2_ENST00000389253.4_Silent_p.G624G	NM_004945.3	NP_004936.2	P50570	DYN2_HUMAN	dynamin 2	624	PH.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TCCGAGCTGGCGTCTACCCCG	0.662		NA	F, N, Splice, Mis, O		ETP ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		19	19p13.2	1785	dynamin 2		L	0													53	45	48			NA	NA	19		NA											NA				10934554		2203	4300	6503	SO:0001819	synonymous_variant				CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17					1785	1785		Pleckstrin homology (PH) domain containing	2974	protein-coding gene	gene with protein product	dynamin II, cytoskeletal protein	602378			NA	7590285, 9143510	Standard	NM_004945	NM_001190716	NA	Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000359692.6:c.1860C>T	19.37:g.10934554C>T		NA	Q5I0Y0|Q7Z5S3|Q9UPH4	37	CCDS32907.1																																																																																			DNM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452591.1		+	ENST00000359692.6	Silent	SNP	19 : 10934554 - 10934554 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	309	62
BICC1	80114	broad.mit.edu	37	10	60588555	60588555	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:60588555G>A	ENST00000373886.3	+	21	2833	c.2829G>A	c.(2827-2829)tcG>tcA	p.S943S		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	943			S -> P (in dbSNP:rs4948550).		multicellular organismal development		RNA binding	p.S943S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TTTTTGAATCGCCAAATGCAC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											91	83	86			NA	NA	10		NA											NA				60588555		2203	4300	6503	SO:0001819	synonymous_variant			AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870	80114	80114		Sterile alpha motif (SAM) domain containing	19351	protein-coding gene	gene with protein product		614295	bicaudal C homolog 1 (Drosophila)		NA		Standard	NM_025044	XM_005270166	NA	Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.2829G>A	10.37:g.60588555G>A		NA		37	CCDS31206.1																																																																																			BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048150.2		+	ENST00000373886.3	Silent	SNP	10 : 60588555 - 60588555 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	17
SEC14L4	284904	broad.mit.edu	37	22	30890926	30890926	+	Missense_Mutation	SNP	G	G	A	rs142766376	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30890926G>A	ENST00000381982.3	-	6	484	c.446C>T	c.(445-447)gCg>gTg	p.A149V	SEC14L4_ENST00000392772.2_Missense_Mutation_p.A95V|SEC14L4_ENST00000255858.7_Missense_Mutation_p.A149V|SEC14L4_ENST00000540456.1_Missense_Mutation_p.A134V			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	149	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CACCATCAGCGCCATCTCGAT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA,VAL/ALA	5,4401	9.9+/-24.2	0,5,2198	140	111	121		446,446	2.8	0	22	dbSNP_134	121	0,8600		0,0,4300	yes	missense,missense	SEC14L4	NM_001161368.1,NM_174977.3	64,64	0,5,6498	AA,AG,GG	NA	0.0,0.1135,0.0384	benign,benign	149/361,149/407	30890926	5,13001	2203	4300	6503	SO:0001583	missense			AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488	284904	284904			20627	protein-coding gene	gene with protein product		612825			NA		Standard	NM_174977	NM_174977	NA	Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000381982.3:c.446C>T	22.37:g.30890926G>A	ENSP00000371412:p.Ala149Val	NA		37	CCDS54517.1	.	.	.	.	.	.	.	.	.	.	g	7.980	0.751077	0.15778	0.001135	0.0	ENSG00000133488	ENST00000255858;ENST00000540456;ENST00000392772;ENST00000381982	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	4.95	2.8	0.32819	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.516723	0.20813	N	0.085214	T	0.44664	0.1304	N	0.03000	-0.44	0.24522	N	0.994152	B;B;B	0.10296	0.001;0.003;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.27400	-1.0075	10	0.13853	T	0.58	-14.846	7.4929	0.27473	0.8194:0.0:0.1806:0.0	.	95;134;149	B3KSF0;G3V1L4;Q9UDX3	.;.;S14L4_HUMAN	V	149;134;95;149	ENSP00000255858:A149V;ENSP00000440848:A134V;ENSP00000376525:A95V;ENSP00000371412:A149V	ENSP00000255858:A149V	A	-	2	0	SEC14L4	29220926	0.305000	0.24481	0.000000	0.03702	0.048000	0.14542	3.833000	0.55790	0.326000	0.23384	-0.373000	0.07131	GCG	SEC14L4-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321947.1		-	ENST00000381982.3	Missense_Mutation	SNP	22 : 30890926 - 30890926 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	461	87
MNX1	3110	broad.mit.edu	37	7	156803024	156803024	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156803024G>A	ENST00000252971.6	-	1	321	c.21C>T	c.(19-21)ttC>ttT	p.F7F		NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1	7					humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGTCGATGCGGAAATTTTTGG	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													8	10	10			NA	NA	7		NA											NA				156803024		1655	3164	4819	SO:0001819	synonymous_variant			AF107457	CCDS34788.1, CCDS55187.1	7q36	2012-03-09	2007-08-09	2007-08-09	ENSG00000130675	ENSG00000130675	3110	3110		Homeoboxes / ANTP class : HOXL subclass	4979	protein-coding gene	gene with protein product		142994	homeo box HB9, homeobox HB9	HLXB9	NA	9843207	Standard		NM_001165255	NA	Approved	HB9, HOXHB9, SCRA1	uc003wmz.4	P50219	OTTHUMG00000157181	ENST00000252971.6:c.21C>T	7.37:g.156803024G>A		NA	Q9Y648	37	CCDS34788.1																																																																																			MNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347796.3		-	ENST00000252971.6	Silent	SNP	7 : 156803024 - 156803024 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	112	21
ACKR3	57007	broad.mit.edu	37	2	237489978	237489978	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237489978G>A	ENST00000272928.3	+	2	1180	c.870G>A	c.(868-870)gaG>gaA	p.E290E		NM_020311.2	NP_064707.1			atypical chemokine receptor 3	NA											NA						GCCGGCTGGAGCACGCCCTCT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	118	126			NA	NA	2		NA											NA				237489978		2203	4300	6503	SO:0001819	synonymous_variant			BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476	57007	57007		CD molecules, GPCR / Class A : Chemokine receptors : Atypical	23692	protein-coding gene	gene with protein product		610376	chemokine orphan receptor 1, chemokine (C-X-C motif) receptor 7	CMKOR1, CXCR7	NA	16107333, 16148	Standard	NM_020311	NM_020311	NA	Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.870G>A	2.37:g.237489978G>A		NA		37	CCDS2516.1																																																																																			ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257079.2		+	ENST00000272928.3	Silent	SNP	2 : 237489978 - 237489978 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	820	265
SLC2A3	6515	broad.mit.edu	37	12	8083844	8083844	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8083844G>T	ENST00000075120.7	-	4	747	c.507C>A	c.(505-507)gcC>gcA	p.A169A		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	169					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		AGAGTACCTGGGCCACCAGAA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(96;424 1461 14416 20933 23688)							NA				0													60	59	59			NA	NA	12		NA											NA				8083844		2203	4300	6503	SO:0001819	synonymous_variant			M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804	6515	6515		Solute carriers	11007	protein-coding gene	gene with protein product		138170		GLUT3	NA		Standard	NM_006931	NM_006931	NA	Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.507C>A	12.37:g.8083844G>T		NA	B2R606|D3DUU6|Q6I9U2|Q9UG15	37	CCDS8586.1																																																																																			SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257914.1		-	ENST00000075120.7	Silent	SNP	12 : 8083844 - 8083844 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	335	63
KCND2	3751	broad.mit.edu	37	7	119915676	119915676	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:119915676G>A	ENST00000331113.4	+	1	1955	c.990G>A	c.(988-990)tcG>tcA	p.S330S		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	330					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TGCTTTTCTCGCTCACCATGG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	119	132			NA	NA	7		NA											NA				119915676		2203	4300	6503	SO:0001819	synonymous_variant			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408	3751	3751		Potassium channels, Voltage-gated ion channels / Potassium channels	6238	protein-coding gene	gene with protein product		605410			NA	10551270, 16382104	Standard	NM_012281	NM_012281	NA	Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.990G>A	7.37:g.119915676G>A		NA	O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	37	CCDS5776.1																																																																																			KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346996.1		+	ENST00000331113.4	Silent	SNP	7 : 119915676 - 119915676 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	597	110
KIAA0196	9897	broad.mit.edu	37	8	126093973	126093973	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:126093973G>A	ENST00000318410.7	-	5	797	c.448C>T	c.(448-450)Cta>Tta	p.L150L	KIAA0196_ENST00000517845.1_Silent_p.L2L	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	150					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			ATGACCAGTAGCATAACTCCA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	134	142			NA	NA	8		NA											NA				126093973		2203	4300	6503	SO:0001819	synonymous_variant				CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961	9897	9897			28984	protein-coding gene	gene with protein product	strumpellin	610657	spastic paraplegia 8 (autosomal dominant)	SPG8	NA	9973294, 17160902, 23085491	Standard	NM_014846	NM_014846	NA	Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.448C>T	8.37:g.126093973G>A		NA	A8K4R7|Q3KQX5|Q8TBQ2	37	CCDS6355.1																																																																																			KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381369.1		-	ENST00000318410.7	Silent	SNP	8 : 126093973 - 126093973 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	382	54
TCF7	6932	broad.mit.edu	37	5	133473798	133473798	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133473798G>A	ENST00000395029.1	+	4	685	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	TCF7_ENST00000378560.4_Missense_Mutation_p.E49K|TCF7_ENST00000321584.4_Missense_Mutation_p.E164K|TCF7_ENST00000432532.2_Missense_Mutation_p.E49K|TCF7_ENST00000378564.1_Missense_Mutation_p.E164K|TCF7_ENST00000517478.1_3'UTR|TCF7_ENST00000520958.1_Missense_Mutation_p.E49K|TCF7_ENST00000518915.1_Missense_Mutation_p.E49K|TCF7_ENST00000342854.5_Missense_Mutation_p.E164K|TCF7_ENST00000321603.6_Missense_Mutation_p.E164K|TCF7_ENST00000395023.1_Missense_Mutation_p.E49K			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	164					cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding	p.E164K(2)		kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCTCTCTACGAACATTTCAA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	large_intestine(2)											128	119	122			NA	NA	5		NA											NA				133473798		2203	4300	6503	SO:0001583	missense			Z47362	CCDS4169.1, CCDS4170.1, CCDS43362.1, CCDS47263.1, CCDS47263.2	5q31	2008-02-05			ENSG00000081059	ENSG00000081059	6932	6932			11639	protein-coding gene	gene with protein product		189908			NA		Standard	NM_201634	NM_003202	NA	Approved	TCF-1	uc003kyt.3	P36402	OTTHUMG00000129124	ENST00000395029.1:c.490G>A	5.37:g.133473798G>A	ENSP00000378472:p.Glu164Lys	NA	B3KSH3|Q86WR9|Q9UKI4	37		.	.	.	.	.	.	.	.	.	.	G	18.57	3.653312	0.67472	.	.	ENSG00000081059	ENST00000342854;ENST00000361590;ENST00000321603;ENST00000321584;ENST00000378564;ENST00000395029;ENST00000518887;ENST00000517851;ENST00000521639;ENST00000522375;ENST00000378560;ENST00000432532;ENST00000520958;ENST00000518915;ENST00000395023;ENST00000519037	D;D;D;D;D;D;D;D;D;D;T	0.99282	-5.68;-5.65;-5.66;-5.67;-5.67;-5.59;-5.61;-5.64;-5.6;-5.64;0.7	4.52	4.52	0.55395	CTNNB1 binding, N-teminal (1);	0.313405	0.29280	N	0.012602	D	0.99214	0.9727	M	0.77616	2.38	0.42677	D	0.993534	P;D;D;B	0.76494	0.607;0.991;0.999;0.33	B;P;P;B	0.62740	0.086;0.689;0.906;0.049	D	0.99136	1.0854	10	0.87932	D	0	.	14.5747	0.68238	0.0:0.0:1.0:0.0	.	164;164;164;164	P36402-9;B7WNT5;P36402;P36402-5	.;.;TCF7_HUMAN;.	K	164;164;164;164;164;164;49;49;49;49;49;49;49;49;49;24	ENSP00000340347:E164K;ENSP00000326654:E164K;ENSP00000326540:E164K;ENSP00000367827:E164K;ENSP00000378472:E164K;ENSP00000367822:E49K;ENSP00000397946:E49K;ENSP00000429547:E49K;ENSP00000430179:E49K;ENSP00000378469:E49K;ENSP00000429696:E24K	ENSP00000326540:E164K	E	+	1	0	TCF7	133501697	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	5.586000	0.67503	2.346000	0.79739	0.557000	0.71058	GAA	TCF7-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000251173.1		+	ENST00000395029.1	Missense_Mutation	SNP	5 : 133473798 - 133473798 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	608	101
ATP6V0A4	50617	broad.mit.edu	37	7	138394541	138394541	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138394541C>A	ENST00000310018.2	-	21	2540		c.e21-1		ATP6V0A4_ENST00000393054.1_Splice_Site|ATP6V0A4_ENST00000353492.4_Splice_Site	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	NA					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TCAGACAGTTCTGCAAGGTAC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	68	68			NA	NA	7		NA											NA				138394541		2203	4300	6503	SO:0001630	splice_region_variant			AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929	50617	50617		ATPases / V-type	866	protein-coding gene	gene with protein product		605239	ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B, ATPase, H+ transporting, lysosomal V0 subunit a isoform 4, ATPase, H+ transporting, lysosomal V0 subunit A4	ATP6N1B, ATP6N2, RTA1C	NA	10577919, 10973252	Standard	NM_020632	XM_005250393	NA	Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.2258-1G>T	7.37:g.138394541C>A		NA	A8KA80	37	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.841343	0.91197	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8636	0.96797	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATP6V0A4	138045081	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.818000	0.86416	2.694000	0.91930	0.655000	0.94253	.	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347514.1	Intron	-	ENST00000310018.2	Splice_Site	SNP	7 : 138394541 - 138394541 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	555	61
PLXNB2	23654	broad.mit.edu	37	22	50719911	50719911	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50719911G>A	ENST00000449103.1	-	22	3680	c.3540C>T	c.(3538-3540)cgC>cgT	p.R1180R	PLXNB2_ENST00000359337.4_Silent_p.R1180R			O15031	PLXB2_HUMAN	plexin B2	1180					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCACCCACTCGCGAGAGCCGA	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	27	25			NA	NA	22		NA											NA				50719911		2164	4250	6414	SO:0001819	synonymous_variant				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576	23654	23654		Plexins	9104	protein-coding gene	gene with protein product		604293			NA	10520995, 12183458	Standard	NM_012401	NM_012401	NA	Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3540C>T	22.37:g.50719911G>A		NA	A6QRH0|Q7KZU3|Q9BSU7	37	CCDS43035.1																																																																																			PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316874.3		-	ENST00000449103.1	Silent	SNP	22 : 50719911 - 50719911 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	275	53
SLC25A29	123096	broad.mit.edu	37	14	100759254	100759254	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100759254A>G	ENST00000554912.1	-	2	3367	c.80T>C	c.(79-81)cTc>cCc	p.L27P	SLC25A29_ENST00000555927.1_Missense_Mutation_p.L27P|SLC25A29_ENST00000556505.1_Missense_Mutation_p.L27P|SLC25A29_ENST00000359232.3_Missense_Mutation_p.L93P|RP11-638I2.6_ENST00000556458.1_lincRNA|SLC25A29_ENST00000392908.3_Silent_p.P78P|SLC25A29_ENST00000539621.1_Missense_Mutation_p.L27P			Q8N8R3	MCATL_HUMAN	solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29	93						integral to membrane|mitochondrial inner membrane	binding			NS(1)|endometrium(1)|ovary(1)	3		Melanoma(154;0.152)			L-Carnitine(DB00583)	GAACTGGTTGAGGGGCGAGTC	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													9	12	11			NA	NA	14		NA											NA				100759254		2127	4178	6305	SO:0001583	missense			AK095532	CCDS32156.1	14q32.2	2013-05-22	2012-03-29	2004-01-21	ENSG00000197119	ENSG00000197119	123096	123096		Solute carriers	20116	protein-coding gene	gene with protein product		615064	chromosome 14 open reading frame 69, solute carrier family 25, member 29	C14orf69	NA		Standard		XM_005267343	NA	Approved	FLJ38975	uc010twx.2	Q8N8R3	OTTHUMG00000171569	ENST00000554912.1:c.80T>C	14.37:g.100759254A>G	ENSP00000450913:p.Leu27Pro	NA	Q541V0	37		.	.	.	.	.	.	.	.	.	.	A	9.282	1.048416	0.19827	.	.	ENSG00000197119	ENST00000359232;ENST00000554912;ENST00000539621;ENST00000556505;ENST00000555927;ENST00000554291	T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	4.99	4.99	0.66335	Mitochondrial carrier domain (2);	0.498441	0.20697	N	0.087352	T	0.79592	0.4472	L	0.39326	1.205	0.80722	D	1	P	0.38788	0.647	P	0.46419	0.516	T	0.77707	-0.2487	10	0.33940	T	0.23	-8.3233	14.6953	0.69118	1.0:0.0:0.0:0.0	.	93	Q8N8R3	MCATL_HUMAN	P	93;27;27;27;27;27	ENSP00000352167:L93P;ENSP00000450913:L27P;ENSP00000442985:L27P;ENSP00000452446:L27P;ENSP00000452078:L27P;ENSP00000452324:L27P	ENSP00000352167:L93P	L	-	2	0	SLC25A29	99829007	0.989000	0.36119	0.675000	0.29917	0.023000	0.10783	2.824000	0.48088	1.883000	0.54544	0.460000	0.39030	CTC	SLC25A29-005	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000414210.1		-	ENST00000554912.1	Missense_Mutation	SNP	14 : 100759254 - 100759254 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	101	15
PATL1	219988	broad.mit.edu	37	11	59425059	59425059	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59425059C>A	ENST00000300146.9	-	5	649	c.565G>T	c.(565-567)Gct>Tct	p.A189S		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	189	Pro-rich.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						ATGGGGACAGCTCTAACAGGA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	123	125			NA	NA	11		NA											NA				59425059		1915	4124	6039	SO:0001583	missense			AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889	219988	219988			26721	protein-coding gene	gene with protein product		614660			NA	17936923	Standard	NM_152716	NM_152716	NA	Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.565G>T	11.37:g.59425059C>A	ENSP00000300146:p.Ala189Ser	NA	B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	37	CCDS44613.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303311	0.81136	.	.	ENSG00000166889	ENST00000300146;ENST00000428532	T	0.48836	0.8	5.64	5.64	0.86602	.	0.175531	0.48286	D	0.000184	T	0.60521	0.2275	L	0.46157	1.445	0.58432	D	0.999999	D;D	0.65815	0.994;0.995	D;D	0.67103	0.915;0.949	T	0.50030	-0.8875	10	0.13470	T	0.59	-13.813	19.3278	0.94270	0.0:1.0:0.0:0.0	.	189;189	Q86TB9-4;Q86TB9	.;PATL1_HUMAN	S	189	ENSP00000300146:A189S	ENSP00000300146:A189S	A	-	1	0	PATL1	59181635	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.889000	0.63171	2.653000	0.90120	0.655000	0.94253	GCT	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394559.1		-	ENST00000300146.9	Missense_Mutation	SNP	11 : 59425059 - 59425059 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	494	21
PBX1	5087	broad.mit.edu	37	1	164789358	164789358	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:164789358C>T	ENST00000559240.1	+	6	837				PBX1_ENST00000367897.1_Intron|PBX1_ENST00000540246.1_Silent_p.S244S|PBX1_ENST00000560641.1_Silent_p.S244S|PBX1_ENST00000540236.1_Silent_p.S349S|PBX1_ENST00000420696.2_Silent_p.S349S|PBX1_ENST00000401534.1_Intron			P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	NA					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						TGTTCATGAGCGTGCAGTCAC	0.483		NA	T	TCF3, EWSR1	pre B-ALL, myoepithelioma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1q23	5087	pre-B-cell leukemia transcription factor 1		L, M	0													93	92	92			NA	NA	1		NA											NA				164789358		2203	4300	6503	SO:0001627	intron_variant			M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630	5087	5087		Homeoboxes / TALE class	8632	protein-coding gene	gene with protein product		176310	pre-B-cell leukemia transcription factor 1		NA		Standard	NM_002585	NM_002585	NA	Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000559240.1:c.838-1416C>T	1.37:g.164789358C>T		NA	Q5T488	37	CCDS1246.1																																																																																			PBX1-012	NOVEL	not_organism_supported|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417688.1		+	ENST00000559240.1	Intron	SNP	1 : 164789358 - 164789358 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	449	68
SPNS2	124976	broad.mit.edu	37	17	4436361	4436361	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4436361G>A	ENST00000329078.3	+	7	1235	c.1025G>A	c.(1024-1026)cGc>cAc	p.R342H		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	342					lipid transport|transmembrane transport	integral to membrane				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						TACCTGCACCGCGCCCAAGTT	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	29	29			NA	NA	17		NA											NA				4436361		1568	3582	5150	SO:0001583	missense			BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018	124976	124976			26992	protein-coding gene	gene with protein product		612584			NA	12815463	Standard		NM_001124758	NA	Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.1025G>A	17.37:g.4436361G>A	ENSP00000333292:p.Arg342His	NA	B9A1T3	37	CCDS42237.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.662842	0.47572	.	.	ENSG00000183018	ENST00000329078	T	0.59083	0.29	4.75	4.75	0.60458	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.49847	0.1581	L	0.46741	1.465	0.53005	D	0.999968	P	0.34662	0.462	B	0.33254	0.16	T	0.46512	-0.9186	10	0.18276	T	0.48	.	16.29	0.82742	0.0:0.0:1.0:0.0	.	342	Q8IVW8	SPNS2_HUMAN	H	342	ENSP00000333292:R342H	ENSP00000333292:R342H	R	+	2	0	SPNS2	4383110	1.000000	0.71417	0.986000	0.45419	0.164000	0.22412	7.614000	0.82996	2.189000	0.69895	0.313000	0.20887	CGC	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438802.1		+	ENST00000329078.3	Missense_Mutation	SNP	17 : 4436361 - 4436361 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	189	32
SP140L	93349	broad.mit.edu	37	2	231264881	231264881	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231264881G>A	ENST00000415673.2	+	15	1323	c.1237G>A	c.(1237-1239)Ggg>Agg	p.G413R	SP140L_ENST00000243810.6_Missense_Mutation_p.G413R|SP140L_ENST00000396563.4_Missense_Mutation_p.G378R|SP140L_ENST00000444636.1_Missense_Mutation_p.G413R	NM_138402.4	NP_612411.4	Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	413						nucleus	DNA binding|metal ion binding	p.G413W(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						CCGGGACGGAGGGGAGCTGTT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(2)											190	196	194			NA	NA	2		NA											NA				231264881		2082	4238	6320	SO:0001583	missense			BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404	93349	93349		Zinc fingers, PHD-type	25105	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_138402	NM_138402	NA	Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.1237G>A	2.37:g.231264881G>A	ENSP00000397911:p.Gly413Arg	NA	Q2M375|Q4ZG65|Q9BSP3	37	CCDS46538.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848324	0.51164	.	.	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563	D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41	3.5	2.61	0.31194	.	.	.	.	.	D	0.94611	0.8263	M	0.93062	3.375	0.09310	N	1	D;D	0.89917	1.0;0.994	D;D	0.80764	0.994;0.962	D	0.85800	0.1373	9	0.87932	D	0	.	6.6587	0.23002	0.1347:0.0:0.8653:0.0	.	378;413	Q9H930-2;Q9H930-4	.;.	R	413;413;413;378	ENSP00000395195:G413R;ENSP00000397911:G413R;ENSP00000243810:G413R;ENSP00000379811:G378R	ENSP00000243810:G413R	G	+	1	0	SP140L	230973125	0.965000	0.33210	0.012000	0.15200	0.175000	0.22909	2.883000	0.48554	0.806000	0.34183	0.491000	0.48974	GGG	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374538.1		+	ENST00000415673.2	Missense_Mutation	SNP	2 : 231264881 - 231264881 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	610	128
MAPK8IP1	9479	broad.mit.edu	37	11	45924210	45924210	+	Missense_Mutation	SNP	G	G	A	rs141639373		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45924210G>A	ENST00000395629.2	+	5	1192	c.862G>A	c.(862-864)Gcc>Acc	p.A288T	MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.A298T			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	298					vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		GCCCACCTCCGCCTTCCTGCC	0.662		NA											G	1	5e-04	0.002	NA	2184	NA	0.9998	,	,	NA	3e-04	NA	NA	NA	5e-04	0.8148	EXOME	NA	NA	0.0016	SNP								NA				0								G	THR/ALA	2,4400		0,2,2199	20	24	22		892	1.5	0.6	11	dbSNP_134	22	1,8587		0,1,4293	yes	missense	MAPK8IP1	NM_005456.3	58	0,3,6492	AA,AG,GG	NA	0.0116,0.0454,0.0231	benign	298/712	45924210	3,12987	2201	4294	6495	SO:0001583	missense				CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653	9479	9479			6882	protein-coding gene	gene with protein product		604641		PRKM8IP	NA	9235893, 9442013	Standard	NM_005456	NM_005456	NA	Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000395629.2:c.862G>A	11.37:g.45924210G>A	ENSP00000378991:p.Ala288Thr	NA	D3DQP4|O43407	37		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	7.492	0.650899	0.14516	4.54E-4	1.16E-4	ENSG00000121653	ENST00000241014;ENST00000395629	T;T	0.36157	1.27;1.27	4.58	1.52	0.23074	.	0.564273	0.19607	N	0.110250	T	0.13200	0.0320	N	0.12182	0.205	0.21064	N	0.999796	B	0.02656	0.0	B	0.01281	0.0	T	0.29579	-1.0007	10	0.02654	T	1	-13.8899	2.9285	0.05792	0.1779:0.1808:0.5165:0.1248	.	298	Q9UQF2	JIP1_HUMAN	T	298;288	ENSP00000241014:A298T;ENSP00000378991:A288T	ENSP00000241014:A298T	A	+	1	0	MAPK8IP1	45880786	0.001000	0.12720	0.573000	0.28510	0.710000	0.40934	0.934000	0.28910	0.219000	0.20840	0.561000	0.74099	GCC	MAPK8IP1-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000259407.2		+	ENST00000395629.2	Missense_Mutation	SNP	11 : 45924210 - 45924210 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	256	60
MTMR4	9110	broad.mit.edu	37	17	56569901	56569901	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56569901G>T	ENST00000323456.5	-	18	3505	c.3381C>A	c.(3379-3381)ttC>ttA	p.F1127L	MTMR4_ENST00000579925.1_Missense_Mutation_p.F1070L	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1127						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGCCAACCAGAATTCACAGT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													228	223	225			NA	NA	17		NA											NA				56569901		2203	4300	6503	SO:0001583	missense			AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389	9110	9110		Zinc fingers, FYVE domain containing, Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins	7452	protein-coding gene	gene with protein product		603559			NA	9736772	Standard	NM_004687	NM_004687	NA	Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.3381C>A	17.37:g.56569901G>T	ENSP00000325285:p.Phe1127Leu	NA	D3DTZ6|Q8IV27|Q9Y4D5	37	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988516	0.93106	.	.	ENSG00000108389	ENST00000323456	D	0.84800	-1.9	5.82	4.73	0.59995	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.94135	0.8119	H	0.95328	3.655	0.41506	D	0.988312	D	0.76494	0.999	D	0.83275	0.996	D	0.94967	0.8113	10	0.87932	D	0	.	11.6908	0.51514	0.1039:0.0:0.8961:0.0	.	1127	Q9NYA4	MTMR4_HUMAN	L	1127	ENSP00000325285:F1127L	ENSP00000325285:F1127L	F	-	3	2	MTMR4	53924900	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.353000	0.66034	1.213000	0.43380	0.655000	0.94253	TTC	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444721.1		-	ENST00000323456.5	Missense_Mutation	SNP	17 : 56569901 - 56569901 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1015	228
MMRN2	79812	broad.mit.edu	37	10	88696774	88696774	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88696774T>C	ENST00000372027.5	-	7	2897	c.2576A>G	c.(2575-2577)cAt>cGt	p.H859R		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	NA	C1q.					extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						GAAGTAGCCATGTTCAGGGAA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	94	100			NA	NA	10		NA											NA				88696774		2203	4300	6503	SO:0001583	missense			AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269	79812	79812		EMI domain containing	19888	protein-coding gene	gene with protein product		608925	elastin microfibril interfacer 3	EMILIN3	NA	11559704	Standard	NM_024756	NM_024756	NA	Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.2576A>G	10.37:g.88696774T>C	ENSP00000361097:p.His859Arg	NA	Q504V7|Q6P2N2	37	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	T	17.36	3.368757	0.61624	.	.	ENSG00000173269	ENST00000372027;ENST00000443699	T	0.74737	-0.87	4.9	4.9	0.64082	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.369029	0.25750	N	0.028548	D	0.85418	0.5692	M	0.80028	2.48	0.36349	D	0.859949	D;D	0.76494	0.999;0.998	D;D	0.72338	0.977;0.968	D	0.89244	0.3586	10	0.51188	T	0.08	-9.9338	13.1707	0.59595	0.0:0.0:0.0:1.0	.	637;859	E7EN39;Q9H8L6	.;MMRN2_HUMAN	R	859;637	ENSP00000361097:H859R	ENSP00000361097:H859R	H	-	2	0	MMRN2	88686754	0.988000	0.35896	0.195000	0.23364	0.970000	0.65996	2.644000	0.46613	1.858000	0.53909	0.456000	0.33151	CAT	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049179.2		-	ENST00000372027.5	Missense_Mutation	SNP	10 : 88696774 - 88696774 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	328	17
TMTC4	84899	broad.mit.edu	37	13	101288908	101288908	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101288908C>T	ENST00000328767.5	-	7	774	c.690G>A	c.(688-690)atG>atA	p.M230I	TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000342624.5_Missense_Mutation_p.M360I|TMTC4_ENST00000376234.3_Missense_Mutation_p.M341I			Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	341						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGATGCAGCCCATTGACCAAT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	128	131			NA	NA	13		NA											NA				101288908		2203	4300	6503	SO:0001583	missense				CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247	84899	84899		Tetratricopeptide (TTC) repeat domain containing	25904	protein-coding gene	gene with protein product					NA		Standard	NM_032813	XM_005254082	NA	Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000328767.5:c.690G>A	13.37:g.101288908C>T	ENSP00000365409:p.Met230Ile	NA	A6NLI7|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	37		.	.	.	.	.	.	.	.	.	.	C	33	5.229546	0.95173	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.53640	0.61;0.61;0.61	6.17	6.17	0.99709	Domain of unknown function DUF1736 (1);	0.000000	0.85682	D	0.000000	T	0.76133	0.3945	M	0.91140	3.18	0.80722	D	1	P;D;D;P	0.63046	0.94;0.992;0.977;0.929	P;D;P;P	0.64144	0.897;0.922;0.893;0.614	T	0.79509	-0.1774	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	230;341;341;360	B7Z666;Q5T4D3-2;Q5T4D3;Q5T4D3-3	.;.;TMTC4_HUMAN;.	I	341;360;230	ENSP00000365408:M341I;ENSP00000343871:M360I;ENSP00000365409:M230I	ENSP00000365409:M230I	M	-	3	0	TMTC4	100086909	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	ATG	TMTC4-009	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000355027.1		-	ENST00000328767.5	Missense_Mutation	SNP	13 : 101288908 - 101288908 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	468	14
AP5Z1	9907	broad.mit.edu	37	7	4820858	4820858	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4820858C>A	ENST00000348624.4	+	2	188	c.94C>A	c.(94-96)Ctg>Atg	p.L32M	AP5Z1_ENST00000401897.1_Missense_Mutation_p.L32M	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	32					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding				NA						CTGTAAACTGCTGCAGGCGGA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	62	60			NA	NA	7		NA											NA				4820858		1988	4180	6168	SO:0001583	missense			AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802	9907	9907			22197	protein-coding gene	gene with protein product		613653	KIAA0415	KIAA0415	NA	20613862, 22022230	Standard		NM_014855	NA	Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.94C>A	7.37:g.4820858C>A	ENSP00000297562:p.Leu32Met	NA	Q8N3X2|Q96H80	37	CCDS47528.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.145985	0.57044	.	.	ENSG00000242802	ENST00000348624;ENST00000401897	T;T	0.75367	-0.93;-0.32	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000003	D	0.86280	0.5895	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87905	0.2693	10	0.87932	D	0	.	16.1738	0.81836	0.0:1.0:0.0:0.0	.	32	O43299	K0415_HUMAN	M	32	ENSP00000297562:L32M;ENSP00000384980:L32M	ENSP00000297562:L32M	L	+	1	2	KIAA0415	4787384	1.000000	0.71417	0.998000	0.56505	0.025000	0.11179	6.680000	0.74518	2.494000	0.84150	0.655000	0.94253	CTG	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323771.1		+	ENST00000348624.4	Missense_Mutation	SNP	7 : 4820858 - 4820858 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	348	52
SLC17A7	57030	broad.mit.edu	37	19	49938140	49938140	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49938140C>A	ENST00000221485.3	-	4	606		c.e4-1		SLC17A7_ENST00000600601.1_Splice_Site|SLC17A7_ENST00000543531.1_Splice_Site	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	NA					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GCCGAAAACTCTGATGGGAAG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	53	54			NA	NA	19		NA											NA				49938140		2203	4300	6503	SO:0001630	splice_region_variant			AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888	57030	57030		Solute carriers	16704	protein-coding gene	gene with protein product	vesicular glutamate transporter 1	605208	solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7		NA	8632143, 10820226	Standard		NM_020309	NA	Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.435-1G>T	19.37:g.49938140C>A		NA	Q6PCD0	37	CCDS12764.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652502	0.67472	.	.	ENSG00000104888	ENST00000221485;ENST00000543531	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0618	0.80841	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC17A7	54629952	1.000000	0.71417	0.998000	0.56505	0.766000	0.43426	7.191000	0.77763	2.741000	0.93983	0.585000	0.79938	.	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465367.2	Intron	-	ENST00000221485.3	Splice_Site	SNP	19 : 49938140 - 49938140 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	112	17
ADAD1	132612	broad.mit.edu	37	4	123342523	123342523	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123342523C>T	ENST00000388725.2	+	11	1737	c.1541C>T	c.(1540-1542)gCt>gTt	p.A514V	ADAD1_ENST00000388724.2_Missense_Mutation_p.A521V|ADAD1_ENST00000296513.2_Missense_Mutation_p.A532V	NM_001159295.1	NP_001152767.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	532	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTACTTGAAGCTGGTACATAT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	71	72			NA	NA	4		NA											NA				123342523		2203	4300	6503	SO:0001583	missense			AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113	132612	132612			30713	protein-coding gene	gene with protein product		614130			NA	7543294, 9541871	Standard	NM_139243	NM_139243	NA	Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000388725.2:c.1541C>T	4.37:g.123342523C>T	ENSP00000373377:p.Ala514Val	NA	A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	37	CCDS54801.1	.	.	.	.	.	.	.	.	.	.	C	2.396	-0.338793	0.05243	.	.	ENSG00000164113	ENST00000296513;ENST00000388724;ENST00000388725	D;D;D	0.93547	-3.24;-3.24;-3.24	4.93	3.15	0.36227	Adenosine deaminase/editase (3);	0.353444	0.30859	N	0.008732	D	0.84620	0.5512	N	0.25485	0.75	0.28122	N	0.930573	B;B	0.25667	0.009;0.131	B;B	0.26310	0.022;0.068	T	0.69982	-0.4997	10	0.13853	T	0.58	-11.4565	5.6847	0.17797	0.1681:0.6553:0.0:0.1766	.	521;532	Q96M93-2;Q96M93	.;ADAD1_HUMAN	V	532;521;514	ENSP00000296513:A532V;ENSP00000373376:A521V;ENSP00000373377:A514V	ENSP00000296513:A532V	A	+	2	0	ADAD1	123561973	0.563000	0.26594	0.999000	0.59377	0.982000	0.71751	1.029000	0.30140	2.277000	0.76020	0.650000	0.86243	GCT	ADAD1-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316454.1		+	ENST00000388725.2	Missense_Mutation	SNP	4 : 123342523 - 123342523 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	207	15
PCSK5	5125	broad.mit.edu	37	9	78771994	78771994	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:78771994C>T	ENST00000376752.4	+	11	1823	c.1346C>T	c.(1345-1347)gCa>gTa	p.A449V	PCSK5_ENST00000545128.1_Missense_Mutation_p.A449V|PCSK5_ENST00000376767.3_Missense_Mutation_p.A449V	NM_006200.3	NP_006191.2	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	449	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTGATGGACGCAGAAGCCATG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	135	144			NA	NA	9		NA											NA				78771994		2203	4300	6503	SO:0001583	missense				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139	5125	5125			8747	protein-coding gene	gene with protein product		600488			NA	7782070	Standard		NM_001190482	NA	Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000376752.4:c.1346C>T	9.37:g.78771994C>T	ENSP00000365943:p.Ala449Val	NA	Q13527|Q96EP4	37	CCDS6652.1	.	.	.	.	.	.	.	.	.	.	C	36	5.739395	0.96873	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000376767;ENST00000396108;ENST00000376752;ENST00000424854	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.94709	0.8293	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.94909	0.8063	10	0.87932	D	0	-17.4375	19.9458	0.97181	0.0:1.0:0.0:0.0	.	449;449	Q92824-2;B1AMG5	.;.	V	449;152;449;449;449;122	ENSP00000446280:A449V;ENSP00000365958:A449V;ENSP00000365943:A449V;ENSP00000411654:A122V	ENSP00000365943:A449V	A	+	2	0	PCSK5	77961814	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.474000	0.81024	2.720000	0.93068	0.591000	0.81541	GCA	PCSK5-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052716.1		+	ENST00000376752.4	Missense_Mutation	SNP	9 : 78771994 - 78771994 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	600	123
ATP6V1F	9296	broad.mit.edu	37	7	128505495	128505495	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128505495C>T	ENST00000492758.1	+	3	308	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	ATP6V1F_ENST00000249289.4_Missense_Mutation_p.R75W	NM_001198909.1	NP_001185838.1	Q16864	VATF_HUMAN	ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F	75					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|membrane fraction|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATPase activity, uncoupled|hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding|proton-transporting ATPase activity, rotational mechanism			lung(1)|ovary(1)|prostate(1)	3						AGAGATGGTGCGGCATGCCCT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	67	70			NA	NA	7		NA											NA				128505495		2203	4300	6503	SO:0001583	missense			D49400	CCDS5807.1, CCDS56511.1	7q32.1	2010-04-21	2002-08-29		ENSG00000128524	ENSG00000128524	9296	9296	3.6.3.14	ATPases / V-type	16832	protein-coding gene	gene with protein product		607160			NA	8581736, 8621738	Standard	NM_004231	NM_004231	NA	Approved	ATP6S14, VATF, Vma7	uc022all.1	Q16864	OTTHUMG00000158365	ENST00000492758.1:c.307C>T	7.37:g.128505495C>T	ENSP00000417378:p.Arg103Trp	NA	Q6IBA8	37	CCDS56511.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242052	0.79912	.	.	ENSG00000128524	ENST00000249289;ENST00000492758	T;T	0.51817	0.69;0.69	5.02	1.92	0.25849	.	0.000000	0.85682	D	0.000000	T	0.68622	0.3021	H	0.97611	4.04	0.80722	D	1	P	0.35272	0.493	B	0.43478	0.421	T	0.76372	-0.2983	10	0.87932	D	0	-11.3352	12.7996	0.57578	0.425:0.575:0.0:0.0	.	75	Q16864	VATF_HUMAN	W	75;103	ENSP00000249289:R75W;ENSP00000417378:R103W	ENSP00000249289:R75W	R	+	1	2	ATP6V1F	128292731	1.000000	0.71417	0.995000	0.50966	0.954000	0.61252	3.472000	0.53114	0.455000	0.26910	0.591000	0.81541	CGG	ATP6V1F-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350801.1		+	ENST00000492758.1	Missense_Mutation	SNP	7 : 128505495 - 128505495 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	275	41
TENC1	23371	broad.mit.edu	37	12	53456960	53456960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53456960G>A	ENST00000546602.1	+	26	3620	c.3620G>A	c.(3619-3621)aGc>aAc	p.S1207N	TENC1_ENST00000379902.3_Missense_Mutation_p.S1180N|TENC1_ENST00000549700.1_Missense_Mutation_p.S1239N|TENC1_ENST00000314250.6_Missense_Mutation_p.S1304N|TENC1_ENST00000451358.1_Missense_Mutation_p.S1294N|TENC1_ENST00000552570.1_Missense_Mutation_p.S1302N|TENC1_ENST00000314276.3_Missense_Mutation_p.S1314N			Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	1304	SH2.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GCAGCTCTGAGCTGTAGCCCC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	47	47			NA	NA	12		NA											NA				53456960		2203	4300	6503	SO:0001583	missense			AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077	23371	23371		Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs, SH2 domain containing	19737	protein-coding gene	gene with protein product	tensin 2	607717	tensin like C1 domain-containing phosphatase		NA		Standard	NM_170754	NM_015319	NA	Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000546602.1:c.3620G>A	12.37:g.53456960G>A	ENSP00000449363:p.Ser1207Asn	NA	A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	37		.	.	.	.	.	.	.	.	.	.	G	12.05	1.820665	0.32145	.	.	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000443113;ENST00000546602;ENST00000552570;ENST00000549700	T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51	3.91	3.01	0.34805	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);Tensin phosphotyrosine-binding domain (1);	0.410378	0.23215	N	0.050621	T	0.22003	0.0530	L	0.37850	1.14	0.32095	N	0.591301	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.002;0.002;0.0;0.003;0.003	T	0.13899	-1.0492	10	0.49607	T	0.09	.	7.4795	0.27395	0.1205:0.0:0.8795:0.0	.	1302;1304;1207;1304;1314	Q63HR2-6;A7E2A6;Q63HR2-2;Q63HR2;Q63HR2-4	.;.;.;TENC1_HUMAN;.	N	1180;1314;1304;1294;676;1207;1302;1239	ENSP00000369232:S1180N;ENSP00000319756:S1314N;ENSP00000319684:S1304N;ENSP00000393362:S1294N;ENSP00000449363:S1207N;ENSP00000447021:S1302N;ENSP00000449361:S1239N	ENSP00000319684:S1304N	S	+	2	0	TENC1	51743227	0.973000	0.33851	1.000000	0.80357	0.982000	0.71751	1.105000	0.31086	0.997000	0.38969	0.511000	0.50034	AGC	TENC1-008	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000405791.2		+	ENST00000546602.1	Missense_Mutation	SNP	12 : 53456960 - 53456960 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	347	27
APBA2	321	broad.mit.edu	37	15	29385310	29385310	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:29385310G>A	ENST00000558402.1	+	8	1701	c.1102G>A	c.(1102-1104)Gac>Aac	p.D368N	APBA2_ENST00000561069.1_Missense_Mutation_p.D368N|APBA2_ENST00000411764.1_Missense_Mutation_p.D368N|APBA2_ENST00000558259.1_Missense_Mutation_p.D368N|APBA2_ENST00000558330.1_Missense_Mutation_p.D368N			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	368	PID.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AGACCTCATCGACGGGATCAT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	107	111			NA	NA	15		NA											NA				29385310		2203	4300	6503	SO:0001583	missense			AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053	321	321			579	protein-coding gene	gene with protein product		602712	X11-like, amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)	X11L, MINT2	NA	8955346	Standard	NM_005503	NM_005503	NA	Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1102G>A	15.37:g.29385310G>A	ENSP00000453293:p.Asp368Asn	NA	O60571	37	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303623	0.81136	.	.	ENSG00000034053	ENST00000411764;ENST00000219865;ENST00000382938	T	0.54675	0.56	5.01	5.01	0.66863	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.64159	0.2573	L	0.46157	1.445	0.80722	D	1	P;P;D;P	0.71674	0.863;0.86;0.998;0.936	B;B;P;B	0.60682	0.255;0.189;0.878;0.425	T	0.66352	-0.5945	10	0.56958	D	0.05	.	17.3238	0.87242	0.0:0.0:1.0:0.0	.	368;72;368;368	Q5XKC0;Q6ZVB1;E9PGI4;Q99767	.;.;.;APBA2_HUMAN	N	368;368;72	ENSP00000409312:D368N	ENSP00000219865:D368N	D	+	1	0	APBA2	27172602	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	9.569000	0.98170	2.331000	0.79229	0.555000	0.69702	GAC	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251362.3		+	ENST00000558402.1	Missense_Mutation	SNP	15 : 29385310 - 29385310 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	558	47
ATP13A4	84239	broad.mit.edu	37	3	193171892	193171892	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193171892C>T	ENST00000342695.4	-	17	2347	c.2025G>A	c.(2023-2025)acG>acA	p.T675T	ATP13A4_ENST00000392443.3_Silent_p.T656T	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	675					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCATTTACCTCGTCAAGGTAG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4405	2.1+/-5.4	0,1,2202	125	105	112		2025	-6.6	0	3		112	0,8600		0,0,4300	no	coding-synonymous	ATP13A4	NM_032279.2		0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077		675/1197	193171892	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249	84239	84239		ATPases / P-type	25422	protein-coding gene	gene with protein product		609556			NA	14702039, 12975309	Standard	NM_032279	XM_005247829	NA	Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2025G>A	3.37:g.193171892C>T		NA	B7WPC7|Q6UY23|Q8N1Q9|Q9H043	37	CCDS3304.2																																																																																			ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157244.4		-	ENST00000342695.4	Silent	SNP	3 : 193171892 - 193171892 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	316	69
CIC	23152	broad.mit.edu	37	19	42792029	42792029	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42792029G>A	ENST00000572681.2	+	7	3628	c.3560G>A	c.(3559-3561)aGc>aAc	p.S1187N	CIC_ENST00000575354.2_Missense_Mutation_p.S278N|CIC_ENST00000160740.3_Missense_Mutation_p.S278N			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	278	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AAGAAGTCCAGCTCAGAGGCC	0.647		NA	Mis, F, S		oligodendroglioma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		19	19q13.2	23152	capicua homolog		O	0													28	25	26			NA	NA	19		NA											NA				42792029		2202	4300	6502	SO:0001583	missense			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432	23152	23152			14214	protein-coding gene	gene with protein product		612082	capicua (Drosophila) homolog, capicua homolog (Drosophila)		NA	12393275, 15981098	Standard		NM_015125	NA	Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000572681.2:c.3560G>A	19.37:g.42792029G>A	ENSP00000459719:p.Ser1187Asn	NA	Q7LGI1|Q9UEG5|Q9Y6T1	37		.	.	.	.	.	.	.	.	.	.	G	14.72	2.620010	0.46736	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.59	4.59	0.56863	High mobility group, HMG1/HMG2 (1);	.	.	.	.	T	0.68339	0.2990	L	0.55213	1.73	0.41738	D	0.989599	D	0.69078	0.997	P	0.60789	0.879	T	0.72747	-0.4200	8	0.87932	D	0	-12.7475	14.9544	0.71101	0.0:0.0:1.0:0.0	.	278	Q96RK0	CIC_HUMAN	N	278	.	ENSP00000160740:S278N	S	+	2	0	CIC	47483869	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.802000	0.62539	2.391000	0.81399	0.555000	0.69702	AGC	CIC-002	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000438528.3		+	ENST00000572681.2	Missense_Mutation	SNP	19 : 42792029 - 42792029 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	85	6
C1orf173	0	broad.mit.edu	37	1	75036989	75036989	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75036989C>A	ENST00000326665.5	-	14	4623	c.4405G>T	c.(4405-4407)Gga>Tga	p.G1469*	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN		1469	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCAGCTGCTCCTGTCTCCTGC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	107	112			NA	NA	1		NA											NA				75036989		2203	4300	6503	SO:0001587	stop_gained											NA	NA			NA							NA					NA						ENST00000326665.5:c.4405G>T	1.37:g.75036989C>A	ENSP00000322609:p.Gly1469*	NA	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	43	9.919568	0.99295	.	.	ENSG00000178965	ENST00000326665	.	.	.	4.77	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.40158	D	0.977036	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-8.6351	10.9771	0.47472	0.0:0.9068:0.0:0.0932	.	.	.	.	X	1469	.	ENSP00000322609:G1469X	G	-	1	0	C1orf173	74809577	0.000000	0.05858	0.007000	0.13788	0.001000	0.01503	0.475000	0.22164	0.995000	0.38917	-0.254000	0.11334	GGA	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026516.1		-	ENST00000326665.5	Nonsense_Mutation	SNP	1 : 75036989 - 75036989 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	856	155
CCDC134	79879	broad.mit.edu	37	22	42209411	42209411	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42209411G>A	ENST00000255784.5	+	5	558	c.454G>A	c.(454-456)Gtc>Atc	p.V152I	CCDC134_ENST00000402061.3_Intron	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134	152						extracellular region				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						CCAGACAGGCGTCTTCAACCA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ILE/VAL	0,4406		0,0,2203	65	61	63		454	3.4	0.9	22		63	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC134	NM_024821.2	29	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	possibly-damaging	152/230	42209411	1,13005	2203	4300	6503	SO:0001583	missense			AL021453	CCDS33654.1	22q13.2	2010-12-24			ENSG00000100147	ENSG00000100147	79879	79879			26185	protein-coding gene	gene with protein product					NA	18087676	Standard	NM_024821	NM_024821	NA	Approved	FLJ22349	uc003bbh.1	Q9H6E4	OTTHUMG00000151262	ENST00000255784.5:c.454G>A	22.37:g.42209411G>A	ENSP00000255784:p.Val152Ile	NA		37	CCDS33654.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385119	0.25031	0.0	1.16E-4	ENSG00000100147	ENST00000255784	.	.	.	5.51	3.42	0.39159	.	0.184989	0.47852	N	0.000220	T	0.42494	0.1205	L	0.33485	1.01	0.44000	D	0.996703	B	0.21821	0.061	B	0.14578	0.011	T	0.33059	-0.9883	9	0.36615	T	0.2	-26.7955	9.1116	0.36732	0.2197:0.0:0.7803:0.0	.	152	Q9H6E4	CC134_HUMAN	I	152	.	ENSP00000255784:V152I	V	+	1	0	CCDC134	40539357	1.000000	0.71417	0.914000	0.36105	0.070000	0.16714	3.181000	0.50903	1.466000	0.48025	0.655000	0.94253	GTC	CCDC134-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321964.1		+	ENST00000255784.5	Missense_Mutation	SNP	22 : 42209411 - 42209411 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	341	65
MATK	4145	broad.mit.edu	37	19	3784220	3784220	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3784220G>A	ENST00000310132.6	-	5	662	c.264C>T	c.(262-264)cgC>cgT	p.R88R	MATK_ENST00000585778.1_Silent_p.R88R|MATK_ENST00000395045.2_Silent_p.R89R|MATK_ENST00000395040.2_Silent_p.R47R	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	88	SH3.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGCTTGACGCGGTACCAGC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	60	58			NA	NA	19		NA											NA				3784220		2203	4300	6503	SO:0001819	synonymous_variant			L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14					4145	4145		SH2 domain containing	6906	protein-coding gene	gene with protein product	Csk-homologous kinase, tyrosine-protein kinase CTK, protein kinase HYL, hematopoietic consensus tyrosine-lacking kinase, tyrosylprotein kinase, hydroxyaryl-protein kinase, Csk-type protein tyrosine kinase, HYL tyrosine kinase, tyrosine kinase MATK, leukocyte carboxyl-terminal src kinase related	600038			NA	8288563, 7530249	Standard	NM_139355	NM_139355	NA	Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.264C>T	19.37:g.3784220G>A		NA		37	CCDS12114.1																																																																																			MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453639.1		-	ENST00000310132.6	Silent	SNP	19 : 3784220 - 3784220 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	517	102
PALB2	79728	broad.mit.edu	37	16	23641691	23641691	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23641691T>G	ENST00000261584.4	-	5	1936	c.1784A>C	c.(1783-1785)gAt>gCt	p.D595A		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	595					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CAGCATTCCATCCCTATGAAA	0.393		NA	F, N, Mis			Wilms tumor, medulloblastoma, AML ,breast		Involved in tolerance or repair of DNA crosslinks						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Fanconi anaemia N, breast cancer susceptibility 	16	16p12.1	79728	partner and localizer of BRCA2		L, O, E	0													66	58	61			NA	NA	16		NA											NA				23641691		2197	4300	6497	SO:0001583	missense				CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093	79728	79728		Fanconi anemia, complementation groups	26144	protein-coding gene	gene with protein product	Fanconi anemia, complementation group N	610355			NA	16793542, 17200672	Standard	NM_024675	NM_024675	NA	Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.1784A>C	16.37:g.23641691T>G	ENSP00000261584:p.Asp595Ala	NA	A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	37	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	T	9.184	1.024334	0.19433	.	.	ENSG00000083093	ENST00000261584	T	0.15139	2.45	5.89	3.65	0.41850	.	1.087770	0.06976	N	0.818945	T	0.14485	0.0350	N	0.22421	0.69	0.09310	N	1	B	0.23249	0.082	B	0.28011	0.085	T	0.38156	-0.9674	10	0.59425	D	0.04	-0.2254	7.4692	0.27338	0.0:0.2393:0.0:0.7607	.	595	Q86YC2	PALB2_HUMAN	A	595	ENSP00000261584:D595A	ENSP00000261584:D595A	D	-	2	0	PALB2	23549192	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	1.219000	0.32479	0.475000	0.27415	-0.250000	0.11733	GAT	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000435287.2		-	ENST00000261584.4	Missense_Mutation	SNP	16 : 23641691 - 23641691 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	22
ZNF644	84146	broad.mit.edu	37	1	91405757	91405757	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91405757T>C	ENST00000370440.1	-	3	1371	c.1154A>G	c.(1153-1155)aAt>aGt	p.N385S	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.N385S			Q9H582	ZN644_HUMAN	zinc finger protein 644	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTTAAGGTATTTGAAAGAAA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	102	101			NA	NA	1		NA											NA				91405757		2203	4300	6503	SO:0001583	missense			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482	84146	84146			29222	protein-coding gene	gene with protein product		614159			NA	10574462	Standard	NM_032186	NM_032186	NA	Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.1154A>G	1.37:g.91405757T>C	ENSP00000359469:p.Asn385Ser	NA	A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	37	CCDS731.1	.	.	.	.	.	.	.	.	.	.	T	9.350	1.065165	0.20067	.	.	ENSG00000122482	ENST00000370440;ENST00000337393	T;T	0.00585	6.39;6.39	5.58	4.45	0.53987	.	0.334787	0.35936	N	0.002883	T	0.00271	0.0008	L	0.32530	0.975	0.43652	D	0.996066	B	0.10296	0.003	B	0.08055	0.003	T	0.59521	-0.7439	10	0.33141	T	0.24	-6.1922	11.4023	0.49876	0.0:0.0706:0.0:0.9294	.	385	Q9H582	ZN644_HUMAN	S	385	ENSP00000359469:N385S;ENSP00000337008:N385S	ENSP00000337008:N385S	N	-	2	0	ZNF644	91178345	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.106000	0.41835	0.958000	0.37956	0.533000	0.62120	AAT	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000027846.2		-	ENST00000370440.1	Missense_Mutation	SNP	1 : 91405757 - 91405757 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	615	136
ZNF256	10172	broad.mit.edu	37	19	58452630	58452630	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58452630C>A	ENST00000282308.3	-	3	1742	c.1546G>T	c.(1546-1548)Gaa>Taa	p.E516*	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	516					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		TAAGGCCTTTCTCCAGTGTGA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(55;1313 1552 8040 11996)							NA				0													82	77	79			NA	NA	19		NA											NA				58452630		2203	4300	6503	SO:0001587	stop_gained			AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454	10172	10172		Zinc fingers, C2H2-type, -	13049	protein-coding gene	gene with protein product		606956			NA		Standard		NM_005773	NA	Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.1546G>T	19.37:g.58452630C>A	ENSP00000282308:p.Glu516*	NA	B2RA92|Q53Y85|Q9BV71	37	CCDS12966.1	.	.	.	.	.	.	.	.	.	.	.	39	7.808358	0.98501	.	.	ENSG00000152454	ENST00000282308	.	.	.	2.66	1.59	0.23543	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.4272	0.32735	0.0:0.8724:0.0:0.1276	.	.	.	.	X	516	.	ENSP00000282308:E516X	E	-	1	0	ZNF256	63144442	0.000000	0.05858	0.006000	0.13384	0.969000	0.65631	0.933000	0.28897	0.434000	0.26340	0.467000	0.42956	GAA	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466702.1		-	ENST00000282308.3	Nonsense_Mutation	SNP	19 : 58452630 - 58452630 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	449	61
MICAL1	64780	broad.mit.edu	37	6	109765460	109765460	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109765460G>A	ENST00000358807.3	-	25	3449	c.3138C>T	c.(3136-3138)gcC>gcT	p.A1046A	MICAL1_ENST00000368952.4_Silent_p.A1065A|MICAL1_ENST00000358577.3_Silent_p.A960A	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	1046					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		AGCGGATGAGGGCATCTCTCT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	40	40			NA	NA	6		NA											NA				109765460		2203	4300	6503	SO:0001819	synonymous_variant			AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596	64780	64780			20619	protein-coding gene	gene with protein product		607129	NEDD9 interacting protein with calponin homology and LIM domains	NICAL	NA	11827972	Standard	NM_022765	NM_022765	NA	Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.3138C>T	6.37:g.109765460G>A		NA	E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	37	CCDS5076.1																																																																																			MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041759.2		-	ENST00000358807.3	Silent	SNP	6 : 109765460 - 109765460 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	275	43
WDR92	116143	broad.mit.edu	37	2	68361924	68361924	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68361924T>G	ENST00000295121.6	-	7	892	c.776A>C	c.(775-777)aAa>aCa	p.K259T	RP11-474G23.1_ENST00000406334.3_3'UTR|WDR92_ENST00000409164.1_Missense_Mutation_p.K259T|WDR92_ENST00000492039.2_5'UTR|WDR92_ENST00000406245.2_Missense_Mutation_p.K158T	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	259					apoptosis|histone lysine methylation		methylated histone residue binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						CACAGTAGATTTATGAGCCTA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	38	36			NA	NA	2		NA											NA				68361924		2203	4300	6503	SO:0001583	missense			AK056303	CCDS1884.1, CCDS58712.1	2p14	2013-01-09			ENSG00000243667	ENSG00000243667	116143	116143		WD repeat domain containing	25176	protein-coding gene	gene with protein product		610729			NA	16487927	Standard	NM_138458	NM_138458	NA	Approved	FLJ31741, Monad	uc002see.2	Q96MX6	OTTHUMG00000152561	ENST00000295121.6:c.776A>C	2.37:g.68361924T>G	ENSP00000295121:p.Lys259Thr	NA		37	CCDS1884.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.25|17.25	3.341843|3.341843	0.61073|0.61073	.|.	.|.	ENSG00000243667|ENSG00000243667	ENST00000295121;ENST00000406245;ENST00000409164|ENST00000457114	D;T;T|.	0.90563|.	-2.69;1.63;-0.13|.	5.65|5.65	5.65|5.65	0.86999|0.86999	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61986|0.61986	0.2391|0.2391	L|L	0.47016|0.47016	1.485|1.485	0.80722|0.80722	D|D	1|1	B|.	0.31931|.	0.347|.	B|.	0.31686|.	0.134|.	T|T	0.59532|0.59532	-0.7437|-0.7437	10|5	0.26408|.	T|.	0.33|.	.|.	14.4531|14.4531	0.67399|0.67399	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	259|.	Q96MX6|.	WDR92_HUMAN|.	T|H	259;158;259|63	ENSP00000295121:K259T;ENSP00000384518:K158T;ENSP00000386746:K259T|.	ENSP00000295121:K259T|.	K|N	-|-	2|1	0|0	WDR92|WDR92	68215428|68215428	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.909000|0.909000	0.53808|0.53808	8.040000|8.040000	0.89188|0.89188	2.155000|2.155000	0.67459|0.67459	0.533000|0.533000	0.62120|0.62120	AAA|AAT	WDR92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251754.2		-	ENST00000295121.6	Missense_Mutation	SNP	2 : 68361924 - 68361924 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	390	68
ITIH2	3698	broad.mit.edu	37	10	7786082	7786082	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7786082G>T	ENST00000379587.4	+	17	2249	c.2214G>T	c.(2212-2214)aaG>aaT	p.K738N	ITIH2_ENST00000358415.4_Missense_Mutation_p.K749N			P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	749					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GTGCCAAGAAGCCCAACAATG	0.383		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	10		NA											NA				7786082		2203	4300	6503	SO:0001583	missense			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655	3698	3698			6167	protein-coding gene	gene with protein product		146640	inter-alpha (globulin) inhibitor, H2 polypeptide		NA	1385302, 10100603	Standard	NM_002216	NM_002216	NA	Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000379587.4:c.2214G>T	10.37:g.7786082G>T	ENSP00000368906:p.Lys738Asn	NA	Q14659|Q15484|Q5T986	37		.	.	.	.	.	.	.	.	.	.	G	17.41	3.381513	0.61845	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.12984	2.63;2.63	5.43	3.58	0.41010	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.239649	0.41396	D	0.000883	T	0.29288	0.0729	M	0.76838	2.35	0.32661	N	0.518123	P	0.45986	0.87	P	0.55785	0.784	T	0.36016	-0.9765	10	0.36615	T	0.2	-16.9467	10.0692	0.42322	0.2721:0.0:0.7279:0.0	.	749	P19823	ITIH2_HUMAN	N	749;738	ENSP00000351190:K749N;ENSP00000368906:K738N	ENSP00000351190:K749N	K	+	3	2	ITIH2	7826088	0.993000	0.37304	0.883000	0.34634	0.939000	0.58152	1.666000	0.37460	0.662000	0.31006	0.655000	0.94253	AAG	ITIH2-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000046679.2		+	ENST00000379587.4	Missense_Mutation	SNP	10 : 7786082 - 7786082 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	220	42
DMRTA2	63950	broad.mit.edu	37	1	50885223	50885223	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:50885223G>T	ENST00000404795.3	-	3	1135	c.743C>A	c.(742-744)tCt>tAt	p.S248Y	DMRTA2_ENST00000418121.1_Missense_Mutation_p.S248Y	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	248	Gly-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(4)|pancreas(1)	6						GGGCGAACCAGAAAAGGACTC	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(196;1651 2045 3292 36497 38236)|Esophageal Squamous(2;257 258 11567 27043 43804)							NA				0													6	8	7			NA	NA	1		NA											NA				50885223		1837	4020	5857	SO:0001583	missense			AJ301580	CCDS44141.1	1p33	2008-08-04			ENSG00000142700	ENSG00000142700	63950	63950			13908	protein-coding gene	gene with protein product		614804			NA	11863363	Standard	NM_032110	NM_032110	NA	Approved		uc010onb.2	Q96SC8	OTTHUMG00000007884	ENST00000404795.3:c.743C>A	1.37:g.50885223G>T	ENSP00000383909:p.Ser248Tyr	NA	Q5TFQ3	37	CCDS44141.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.787807	0.31593	.	.	ENSG00000142700	ENST00000404795;ENST00000418121	T;T	0.33654	1.4;1.4	3.76	2.84	0.33178	.	0.678240	0.13285	N	0.399480	T	0.19287	0.0463	N	0.22421	0.69	0.30662	N	0.75429	P	0.46020	0.871	B	0.37304	0.246	T	0.09618	-1.0666	10	0.45353	T	0.12	-9.2124	4.3626	0.11210	0.3172:0.0:0.6828:0.0	.	248	Q96SC8	DMTA2_HUMAN	Y	248	ENSP00000383909:S248Y;ENSP00000399370:S248Y	ENSP00000383909:S248Y	S	-	2	0	DMRTA2	50657810	0.999000	0.42202	0.995000	0.50966	0.353000	0.29299	4.988000	0.63863	2.078000	0.62432	0.462000	0.41574	TCT	DMRTA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351074.1		-	ENST00000404795.3	Missense_Mutation	SNP	1 : 50885223 - 50885223 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	103	14
SOCS6	9306	broad.mit.edu	37	18	67992860	67992860	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:67992860A>C	ENST00000397942.3	+	2	1272	c.956A>C	c.(955-957)aAt>aCt	p.N319T	SOCS6_ENST00000582322.1_Missense_Mutation_p.N319T	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	319					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				CCAATGCAGAATAATCAAATC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(84;1024 1361 24382 36583 42651)							NA				0													77	73	75			NA	NA	18		NA											NA				67992860		2203	4300	6503	SO:0001583	missense			AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677	9306	9306		Suppressors of cytokine signaling, SH2 domain containing	16833	protein-coding gene	gene with protein product		605118	suppressor of cytokine signaling 4	SOCS4	NA	9344848, 11042152	Standard		NM_004232	NA	Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.956A>C	18.37:g.67992860A>C	ENSP00000381034:p.Asn319Thr	NA	Q8WUM3	37	CCDS11998.1	.	.	.	.	.	.	.	.	.	.	A	8.832	0.940237	0.18281	.	.	ENSG00000170677	ENST00000397942	T	0.26223	1.75	5.08	1.63	0.23807	.	0.292022	0.31177	N	0.008102	T	0.10937	0.0267	N	0.11560	0.145	0.34538	D	0.709975	B	0.02656	0.0	B	0.04013	0.001	T	0.18681	-1.0329	10	0.25106	T	0.35	-6.9417	5.9643	0.19316	0.6703:0.169:0.1607:0.0	.	319	O14544	SOCS6_HUMAN	T	319	ENSP00000381034:N319T	ENSP00000381034:N319T	N	+	2	0	SOCS6	66143840	0.982000	0.34865	0.169000	0.22859	0.978000	0.69477	1.537000	0.36083	0.057000	0.16193	0.459000	0.35465	AAT	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256270.2		+	ENST00000397942.3	Missense_Mutation	SNP	18 : 67992860 - 67992860 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	73
HAGH	3029	broad.mit.edu	37	16	1866938	1866938	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1866938C>T	ENST00000566709.1	-	7	843	c.559G>A	c.(559-561)Gag>Aag	p.E187K	HAGH_ENST00000397356.3_Missense_Mutation_p.E235K|HAGH_ENST00000397353.2_Missense_Mutation_p.E187K|HAGH_ENST00000455446.2_Nonsense_Mutation_p.W198*			Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	235					glutathione biosynthetic process	cytoplasm|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	TTGCCGGGCTCCACGTGGCGT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(55;1048 1176 25227 40124 41333)							NA				0													101	84	90			NA	NA	16		NA											NA				1866938		2199	4300	6499	SO:0001583	missense			X90999	CCDS32366.1, CCDS10447.2, CCDS66900.1	16p13.3	2012-10-02	2003-11-04		ENSG00000063854	ENSG00000063854	3029	3029	3.1.2.6		4805	protein-coding gene	gene with protein product		138760	hydroxyacyl glutathione hydrolase		NA	3025077, 7327557	Standard	NM_005326	NM_001286249	NA	Approved	GLO2, GLXII, HAGH1	uc002cna.3	Q16775	OTTHUMG00000128662	ENST00000566709.1:c.559G>A	16.37:g.1866938C>T	ENSP00000455422:p.Glu187Lys	NA	A8K290|B4DRA7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.675775|5.675775	0.96764|0.96764	.|.	.|.	ENSG00000063854|ENSG00000063854	ENST00000397356;ENST00000397353|ENST00000455446	D;D|.	0.96041|.	-3.89;-3.89|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.87305|.	0.6144|.	H|H	0.95611|0.95611	3.695|3.695	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.78314|.	0.991;0.989|.	D|.	0.91263|.	0.5038|.	10|.	0.87932|0.72032	D|D	0|0.01	-1.0464|-1.0464	17.2325|17.2325	0.86988|0.86988	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	rs35956038|rs35956038	187;235|.	Q16775-2;Q16775|.	.;GLO2_HUMAN|.	K|X	235;187|198	ENSP00000380514:E235K;ENSP00000380511:E187K|.	ENSP00000380511:E187K|ENSP00000406552:W198X	E|W	-|-	1|3	0|0	HAGH|HAGH	1806939|1806939	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.767000|0.767000	0.43475|0.43475	7.442000|7.442000	0.80503|0.80503	2.313000|2.313000	0.78055|0.78055	0.655000|0.655000	0.94253|0.94253	GAG|TGG	HAGH-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000433838.1		-	ENST00000566709.1	Missense_Mutation	SNP	16 : 1866938 - 1866938 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	250	38
LRWD1	222229	broad.mit.edu	37	7	102106440	102106440	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102106440C>T	ENST00000292616.5	+	2	409	c.257C>T	c.(256-258)gCc>gTc	p.A86V		NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	86					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GATGTTACTGCCTTGTGCCAG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	48	48			NA	NA	7		NA											NA				102106440		2203	4300	6503	SO:0001583	missense			AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036	222229	222229		WD repeat domain containing	21769	protein-coding gene	gene with protein product	origin recognition complex associated, centromere protein 33	615167			NA	20932478, 20850016, 20180869	Standard	NM_152892	NM_152892	NA	Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.257C>T	7.37:g.102106440C>T	ENSP00000292616:p.Ala86Val	NA	A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	37	CCDS34715.1	.	.	.	.	.	.	.	.	.	.	C	9.450	1.090407	0.20471	.	.	ENSG00000161036	ENST00000292616	T	0.60040	0.22	5.19	-0.411	0.12370	.	1.003600	0.08021	N	0.991985	T	0.32255	0.0823	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14117	-1.0484	10	0.23302	T	0.38	-21.2124	1.2457	0.01972	0.1397:0.3396:0.2726:0.2481	.	86	Q9UFC0	LRWD1_HUMAN	V	86	ENSP00000292616:A86V	ENSP00000292616:A86V	A	+	2	0	LRWD1	101893445	0.000000	0.05858	0.000000	0.03702	0.707000	0.40811	0.133000	0.15912	-0.382000	0.07870	0.561000	0.74099	GCC	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349493.1		+	ENST00000292616.5	Missense_Mutation	SNP	7 : 102106440 - 102106440 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	214	22
CCKAR	886	broad.mit.edu	37	4	26483316	26483316	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26483316C>A	ENST00000295589.3	-	5	1425	c.1231G>T	c.(1231-1233)Gcc>Tcc	p.A411S		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	411					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GACAGAGAGGCTCCTGTGGTC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	98	98			NA	NA	4		NA											NA				26483316		2203	4300	6503	SO:0001583	missense			L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394	886	886		GPCR / Class A : Cholecystokinin receptors	1570	protein-coding gene	gene with protein product		118444			NA		Standard		NM_000730	NA	Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.1231G>T	4.37:g.26483316C>A	ENSP00000295589:p.Ala411Ser	NA	B2R9Z5	37	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156622	0.57259	.	.	ENSG00000163394	ENST00000295589	T	0.52754	0.65	5.26	5.26	0.73747	.	0.267689	0.37136	N	0.002234	T	0.59376	0.2189	M	0.74258	2.255	0.37303	D	0.908806	D	0.55605	0.972	P	0.53102	0.718	T	0.60934	-0.7164	10	0.09084	T	0.74	.	18.8577	0.92259	0.0:1.0:0.0:0.0	.	411	P32238	CCKAR_HUMAN	S	411	ENSP00000295589:A411S	ENSP00000295589:A411S	A	-	1	0	CCKAR	26092414	1.000000	0.71417	0.802000	0.32245	0.053000	0.15095	6.257000	0.72480	2.452000	0.82932	0.563000	0.77884	GCC	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250418.2		-	ENST00000295589.3	Missense_Mutation	SNP	4 : 26483316 - 26483316 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	816	96
MCM6	4175	broad.mit.edu	37	2	136614334	136614334	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136614334G>A	ENST00000264156.2	-	11	1650	c.1590C>T	c.(1588-1590)ttC>ttT	p.F530F	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	530	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)	AGAAGAGATCGAATCGGGACA	0.413		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		1,4405	2.1+/-5.4	0,1,2202	137	132	134		1590	4.5	1	2		134	0,8600		0,0,4300	no	coding-synonymous	MCM6	NM_005915.4		0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077		530/822	136614334	1,13005	2203	4300	6503	SO:0001819	synonymous_variant				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.1590C>T	2.37:g.136614334G>A		NA	B2R6H2|Q13504|Q99859	37	CCDS2179.1																																																																																			MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254658.1		-	ENST00000264156.2	Silent	SNP	2 : 136614334 - 136614334 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	484	152
ASPM	259266	broad.mit.edu	37	1	197074013	197074013	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197074013C>T	ENST00000367409.4	-	18	4624	c.4368G>A	c.(4366-4368)tgG>tgA	p.W1456*	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1456					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTCTTAAATGCCATTCTCTAA	0.284		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	76	77			NA	NA	1		NA											NA				197074013		2203	4296	6499	SO:0001587	stop_gained			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279	259266	259266			19048	protein-coding gene	gene with protein product		605481	microcephaly, primary autosomal recessive 5, asp (abnormal spindle)-like, microcephaly associated (Drosophila)	MCPH5	NA	11078481	Standard	NM_018136	NM_018136	NA	Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.4368G>A	1.37:g.197074013C>T	ENSP00000356379:p.Trp1456*	NA	Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	44	11.166462	0.99525	.	.	ENSG00000066279	ENST00000367409	.	.	.	5.27	5.27	0.74061	.	0.172650	0.42172	D	0.000745	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2403	0.89966	0.0:1.0:0.0:0.0	.	.	.	.	X	1456	.	ENSP00000356379:W1456X	W	-	3	0	ASPM	195340636	1.000000	0.71417	0.958000	0.39756	0.821000	0.46438	5.308000	0.65768	2.636000	0.89361	0.484000	0.47621	TGG	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088256.1		-	ENST00000367409.4	Nonsense_Mutation	SNP	1 : 197074013 - 197074013 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	227	31
CXXC11	0	broad.mit.edu	37	2	242814506	242814506	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242814506G>T	ENST00000343216.3	+	2	827	c.799G>T	c.(799-801)Gac>Tac	p.D267Y		NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN		267						integral to membrane					NA						GGCCATTGGAGACCCCCTCTT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	39	38			NA	NA	2		NA											NA				242814506		1918	4127	6045	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000343216.3:c.799G>T	2.37:g.242814506G>T	ENSP00000345374:p.Asp267Tyr	NA	Q8N2A5	37	CCDS42843.1	.	.	.	.	.	.	.	.	.	.	.	11.69	1.712907	0.30413	.	.	ENSG00000188011	ENST00000343216	T	0.25579	1.79	2.79	0.926	0.19430	.	.	.	.	.	T	0.15609	0.0376	N	0.08118	0	0.09310	N	1	D	0.61080	0.989	P	0.50708	0.648	T	0.08827	-1.0703	9	0.56958	D	0.05	-1.4578	2.5208	0.04679	0.2641:0.0:0.5009:0.2351	.	267	Q14D33	CB085_HUMAN	Y	267	ENSP00000345374:D267Y	ENSP00000345374:D267Y	D	+	1	0	C2orf85	242463179	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.275000	0.02817	0.252000	0.21531	0.450000	0.29827	GAC	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322310.1		+	ENST00000343216.3	Missense_Mutation	SNP	2 : 242814506 - 242814506 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	417	149
COL24A1	255631	broad.mit.edu	37	1	86590924	86590924	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86590924C>A	ENST00000370571.2	-	3	1461	c.1095G>T	c.(1093-1095)gaG>gaT	p.E365D	COL24A1_ENST00000436319.1_Missense_Mutation_p.E365D	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	365					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AGCTAAATTTCTCTTTGGTAT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	140	146			NA	NA	1		NA											NA				86590924		1925	4124	6049	SO:0001583	missense			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502	255631	255631		Collagens	20821	protein-coding gene	gene with protein product		610025			NA		Standard	NM_152890	NM_152890	NA	Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1095G>T	1.37:g.86590924C>A	ENSP00000359603:p.Glu365Asp	NA	C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	37	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	0.738	-0.777566	0.02929	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.94330	-3.4;-3.4	5.45	1.25	0.21368	.	0.372941	0.19618	N	0.109968	T	0.68339	0.2990	N	0.24115	0.695	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.001	T	0.58912	-0.7552	10	0.13108	T	0.6	.	2.3708	0.04330	0.2633:0.4555:0.1282:0.153	.	365;365	F8WDM8;Q17RW2	.;COOA1_HUMAN	D	365	ENSP00000359603:E365D;ENSP00000392531:E365D	ENSP00000359603:E365D	E	-	3	2	COL24A1	86363512	0.001000	0.12720	0.152000	0.22495	0.217000	0.24651	0.072000	0.14617	-0.020000	0.14032	0.563000	0.77884	GAG	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029335.4		-	ENST00000370571.2	Missense_Mutation	SNP	1 : 86590924 - 86590924 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	399	33
DNMT3L	29947	broad.mit.edu	37	21	45678505	45678505	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45678505G>T	ENST00000270172.3	-	6	900	c.417C>A	c.(415-417)aaC>aaA	p.N139K	DNMT3L_ENST00000418993.1_Missense_Mutation_p.N139K	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	139	ADD.				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		AGCACACCCAGTTGCTCATGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	39	39			NA	NA	21		NA											NA				45678505		2200	4300	6500	SO:0001583	missense			AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182	29947	29947			2980	protein-coding gene	gene with protein product	cytosine-5-methyltransferase 3-like protein, human cytosine-5-methyltransferase 3-like protein	606588			NA	10857753	Standard	NM_013369	NM_013369	NA	Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000270172.3:c.417C>A	21.37:g.45678505G>T	ENSP00000270172:p.Asn139Lys	NA	E9PB42|Q9BUJ4	37	CCDS13705.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.974125	0.34848	.	.	ENSG00000142182	ENST00000270172;ENST00000418993;ENST00000431166	T;T;T	0.76060	-0.99;-0.99;-0.99	3.61	0.579	0.17397	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.541236	0.19810	N	0.105545	T	0.58524	0.2128	L	0.31207	0.915	0.23271	N	0.998008	P;P	0.49961	0.93;0.93	P;P	0.45856	0.495;0.495	T	0.50792	-0.8786	10	0.34782	T	0.22	-19.8175	3.1666	0.06538	0.2642:0.2316:0.5042:0.0	.	139;139	Q9UJW3-2;Q9UJW3	.;DNM3L_HUMAN	K	139;139;124	ENSP00000270172:N139K;ENSP00000412862:N139K;ENSP00000400242:N124K	ENSP00000270172:N139K	N	-	3	2	DNMT3L	44502933	0.757000	0.28394	0.991000	0.47740	0.982000	0.71751	-0.026000	0.12392	0.286000	0.22352	0.561000	0.74099	AAC	DNMT3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195820.1		-	ENST00000270172.3	Missense_Mutation	SNP	21 : 45678505 - 45678505 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	144	10
CD48	962	broad.mit.edu	37	1	160654834	160654834	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160654834G>A	ENST00000368045.3	-	2	267	c.228C>T	c.(226-228)taC>taT	p.Y76Y	CD48_ENST00000368046.3_Silent_p.Y76Y			P09326	CD48_HUMAN	CD48 molecule	76	Ig-like C2-type 1.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TGGATTCAAAGTACTTAGATT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	118	116			NA	NA	1		NA											NA				160654834		2203	4300	6503	SO:0001819	synonymous_variant			BC016182	CCDS1208.1, CCDS72955.1	1q21.3-q22	2013-01-29	2006-03-31		ENSG00000117091	ENSG00000117091	962	962		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	1683	protein-coding gene	gene with protein product		109530	CD48 antigen (B-cell membrane protein), CD48 molecule 	BCM1	NA	2828034	Standard	NM_001778	NM_001256030	NA	Approved	BLAST, mCD48, hCD48, SLAMF2	uc001fwo.2	P09326	OTTHUMG00000024009	ENST00000368045.3:c.228C>T	1.37:g.160654834G>A		NA	Q5U055	37																																																																																				CD48-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000060472.1		-	ENST00000368045.3	Silent	SNP	1 : 160654834 - 160654834 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	734	144
RELN	5649	broad.mit.edu	37	7	103191616	103191616	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103191616G>T	ENST00000428762.1	-	41	6359	c.6200C>A	c.(6199-6201)tCt>tAt	p.S2067Y	RELN_ENST00000424685.2_Missense_Mutation_p.S2067Y|RELN_ENST00000343529.5_Missense_Mutation_p.S2067Y	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2067					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)		GGAGCATAAAGAGCTGACGTG	0.597		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													78	57	64			NA	NA	7		NA											NA				103191616		2203	4300	6503	SO:0001583	missense				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.6200C>A	7.37:g.103191616G>T	ENSP00000392423:p.Ser2067Tyr	NA	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807492	0.70797	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.22336	1.96;1.96;1.96	5.7	5.7	0.88788	Neuraminidase (1);	0.114362	0.64402	D	0.000008	T	0.41190	0.1148	L	0.40543	1.245	0.58432	D	0.999993	D;D	0.76494	0.995;0.999	P;D	0.76071	0.823;0.987	T	0.12243	-1.0555	10	0.66056	D	0.02	.	19.8383	0.96670	0.0:0.0:1.0:0.0	.	2067;2067	P78509-2;P78509	.;RELN_HUMAN	Y	2067	ENSP00000392423:S2067Y;ENSP00000345694:S2067Y;ENSP00000388446:S2067Y	ENSP00000345694:S2067Y	S	-	2	0	RELN	102978852	1.000000	0.71417	0.992000	0.48379	0.282000	0.26991	9.081000	0.94049	2.683000	0.91414	0.650000	0.86243	TCT	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348148.1		-	ENST00000428762.1	Missense_Mutation	SNP	7 : 103191616 - 103191616 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	252	27
COL11A2	1302	broad.mit.edu	37	6	33144231	33144231	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33144231G>T	ENST00000374708.4	-	25	2148	c.1890C>A	c.(1888-1890)taC>taA	p.Y630*	COL11A2_ENST00000374712.1_Nonsense_Mutation_p.Y635*|COL11A2_ENST00000341947.2_Nonsense_Mutation_p.Y716*|COL11A2_ENST00000374714.1_Nonsense_Mutation_p.Y690*|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000357486.1_Nonsense_Mutation_p.Y695*|COL11A2_ENST00000374713.1_Nonsense_Mutation_p.Y669*|COL11A2_ENST00000361917.1_Nonsense_Mutation_p.Y609*|COL11A2_ENST00000395197.1_Nonsense_Mutation_p.Y656*	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	716	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GAGGTCCTGGGTATCCTAGAG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(1;90 116 3946 5341 17093)							NA				0													38	39	39			NA	NA	6		NA											NA				33144231		1511	2709	4220	SO:0001587	stop_gained			U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248	1302	1302		Collagens	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53	NA	7559422, 10581026	Standard		NM_080679	NA	Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.1890C>A	6.37:g.33144231G>T	ENSP00000363840:p.Tyr630*	NA	Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q99866|Q9UIP9	37	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	G	42	9.337532	0.99142	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	.	.	.	4.88	3.11	0.35812	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.8654	0.24091	0.2806:0.0:0.7194:0.0	.	.	.	.	X	630;716;695;690;669;656;635;609	.	ENSP00000339915:Y716X	Y	-	3	2	COL11A2	33252209	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.868000	0.39509	0.675000	0.31264	0.549000	0.68633	TAC	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076032.2		-	ENST00000374708.4	Nonsense_Mutation	SNP	6 : 33144231 - 33144231 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	184	38
EPHA1	2041	broad.mit.edu	37	7	143091949	143091949	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143091949A>G	ENST00000275815.3	-	14	2390	c.2304T>C	c.(2302-2304)ttT>ttC	p.F768F		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	768	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GAGTCAGGCCAAAGTCAGACA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	116	120			NA	NA	7		NA											NA				143091949		2203	4300	6503	SO:0001819	synonymous_variant			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2041	2041	2.7.10.1	EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3385	protein-coding gene	gene with protein product		179610	EphA1	EPHT, EPHT1	NA	9267020	Standard		NM_005232	NA	Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.2304T>C	7.37:g.143091949A>G		NA	A1L3V3|Q15405	37	CCDS5884.1																																																																																			EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342154.1		-	ENST00000275815.3	Silent	SNP	7 : 143091949 - 143091949 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	345	57
ZBTB22	9278	broad.mit.edu	37	6	33284326	33284326	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33284326T>C	ENST00000431845.2	-	2	519	c.368A>G	c.(367-369)gAc>gGc	p.D123G	ZBTB22_ENST00000418724.1_Missense_Mutation_p.D123G	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GTTGACAATGTCAGCAGCAGC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	104	104			NA	NA	6		NA											NA				33284326		2203	4300	6503	SO:0001583	missense			Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104	NA	9278		-, BTB/POZ domain containing, Zinc fingers, C2H2-type	13085	protein-coding gene	gene with protein product		611439	zinc finger protein 297	ZNF297	NA		Standard		NM_005453	NA	Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.368A>G	6.37:g.33284326T>C	ENSP00000407545:p.Asp123Gly	NA	B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	37	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	T	18.38	3.611789	0.66558	.	.	ENSG00000236104	ENST00000418724;ENST00000431845;ENST00000441117	T;T;T	0.68765	-0.35;-0.35;-0.35	4.44	4.44	0.53790	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.35585	N	0.003104	T	0.71039	0.3293	L	0.59967	1.855	0.58432	D	0.999999	D	0.89917	1.0	D	0.76071	0.987	T	0.74601	-0.3611	10	0.59425	D	0.04	.	11.7181	0.51666	0.0:0.0:0.0:1.0	.	123	O15209	ZBT22_HUMAN	G	123	ENSP00000404403:D123G;ENSP00000407545:D123G;ENSP00000413172:D123G	ENSP00000404403:D123G	D	-	2	0	ZBTB22	33392304	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.114000	0.71560	1.870000	0.54199	0.450000	0.29827	GAC	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076183.2		-	ENST00000431845.2	Missense_Mutation	SNP	6 : 33284326 - 33284326 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	896	165
TMED10	10972	broad.mit.edu	37	14	75618848	75618848	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75618848T>C	ENST00000303575.4	-	2	277		c.e2-2			NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)	NA					protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		ATCTGTGATCTAAAATAAGAA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	59	60			NA	NA	14		NA											NA				75618848		2203	4300	6503	SO:0001630	splice_region_variant			AL832012, X97442	CCDS9840.1	14q24.3	2008-08-11			ENSG00000170348	ENSG00000170348	10972	10972			16998	protein-coding gene	gene with protein product		605406			NA	7596406, 8663407	Standard	NM_006827	NM_006827	NA	Approved	TMP21, P24(DELTA)	uc001xrm.1	P49755		ENST00000303575.4:c.226-2A>G	14.37:g.75618848T>C		NA	B2R605|Q15602|Q16536|Q86TC2|Q86TS5	37	CCDS9840.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.937216	0.73557	.	.	ENSG00000170348	ENST00000303575	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5719	0.76345	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMED10	74688601	1.000000	0.71417	0.997000	0.53966	0.752000	0.42762	7.655000	0.83696	2.142000	0.66516	0.459000	0.35465	.	TMED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415034.1	Intron	-	ENST00000303575.4	Splice_Site	SNP	14 : 75618848 - 75618848 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	259	32
OR1C1	26188	broad.mit.edu	37	1	247921228	247921228	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247921228C>T	ENST00000408896.2	-	1	754	c.481G>A	c.(481-483)Gtc>Atc	p.V161I		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GCTATTAGGACAGTATGCAGG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	69	69			NA	NA	1		NA											NA				247921228		2084	4232	6316	SO:0001583	missense			X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888	26188	26188		GPCR / Class A : Olfactory receptors	8182	protein-coding gene	gene with protein product					NA	9119360	Standard		NM_012353	NA	Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.481G>A	1.37:g.247921228C>T	ENSP00000386138:p.Val161Ile	NA	B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	37	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	C	1.094	-0.662999	0.03428	.	.	ENSG00000221888	ENST00000408896	T	0.37058	1.22	3.19	-6.38	0.01957	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.18718	0.0449	N	0.26092	0.79	0.09310	N	1	B	0.06786	0.001	B	0.19666	0.026	T	0.31110	-0.9955	9	0.72032	D	0.01	.	1.1296	0.01743	0.3319:0.3316:0.1089:0.2276	.	161	Q15619	OR1C1_HUMAN	I	161	ENSP00000386138:V161I	ENSP00000386138:V161I	V	-	1	0	OR1C1	245987851	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.647000	0.00860	-1.514000	0.01786	-1.099000	0.02127	GTC	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096855.1		-	ENST00000408896.2	Missense_Mutation	SNP	1 : 247921228 - 247921228 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	204	51
FAM208B	54906	broad.mit.edu	37	10	5788293	5788293	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5788293G>A	ENST00000328090.5	+	15	3534	c.2909G>A	c.(2908-2910)gGc>gAc	p.G970D		NM_017782.4	NP_060252	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	970											NA						TCTTACAGTGGCACTGTTACT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	69	68			NA	NA	10		NA											NA				5788293		1973	4157	6130	SO:0001583	missense			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021	54906	54906			23484	protein-coding gene	gene with protein product			chromosome 10 open reading frame 18	C10orf18	NA	12477932	Standard	NM_017782	NM_017782	NA	Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.2909G>A	10.37:g.5788293G>A	ENSP00000328426:p.Gly970Asp	NA	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	37	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.380718	0.00205	.	.	ENSG00000108021	ENST00000328090	D	0.97161	-4.27	5.2	-1.54	0.08584	.	0.549868	0.16528	N	0.210512	D	0.83543	0.5277	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.78026	-0.2365	10	0.02654	T	1	.	0.8265	0.01121	0.4343:0.1622:0.2456:0.1579	.	970	Q5VWN6	F208B_HUMAN	D	970	ENSP00000328426:G970D	ENSP00000328426:G970D	G	+	2	0	C10orf18	5828299	0.005000	0.15991	0.006000	0.13384	0.001000	0.01503	0.480000	0.22244	0.056000	0.16144	-0.136000	0.14681	GGC	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046571.2		+	ENST00000328090.5	Missense_Mutation	SNP	10 : 5788293 - 5788293 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	393	75
PPP2R1B	5519	broad.mit.edu	37	11	111622994	111622994	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111622994G>A	ENST00000341980.6	-	9	1098	c.1092C>T	c.(1090-1092)atC>atT	p.I364I	PPP2R1B_ENST00000393055.2_Silent_p.I282I|PPP2R1B_ENST00000426998.2_Silent_p.I345I|PPP2R1B_ENST00000427203.2_Silent_p.I248I|PPP2R1B_ENST00000311129.5_Silent_p.I409I|PPP2R1B_ENST00000527614.1_Silent_p.I409I			P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	409							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		AGAGCTGACGGATTCCAATCA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	103	107			NA	NA	11		NA											NA				111622994		2201	4297	6498	SO:0001819	synonymous_variant			AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	5519	5519	3.1.3.16	Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits	9303	protein-coding gene	gene with protein product	PP2A-A-beta, protein phosphatase 2A, regulatory subunit A, beta isoform	603113	protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform, protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform		NA	2159327, 9795170	Standard	NM_002716	NM_181699	NA	Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000341980.6:c.1092C>T	11.37:g.111622994G>A		NA	B0YJ69|O75620|Q8NHV8	37	CCDS53708.1	.	.	.	.	.	.	.	.	.	.	G	9.935	1.216002	0.22373	.	.	ENSG00000137713	ENST00000531890	.	.	.	5.57	3.7	0.42460	.	.	.	.	.	T	0.61286	0.2335	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57335	-0.7829	4	.	.	.	-5.2892	10.441	0.44466	0.1598:0.0:0.8402:0.0	.	.	.	.	S	110	.	.	P	-	1	0	PPP2R1B	111128204	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.189000	0.42621	0.818000	0.34468	-0.149000	0.13747	CCG	PPP2R1B-005	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391300.1		-	ENST00000341980.6	Silent	SNP	11 : 111622994 - 111622994 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	564	115
TTF1	7270	broad.mit.edu	37	9	135277105	135277105	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135277105C>T	ENST00000334270.2	-	2	1143	c.1104G>A	c.(1102-1104)ggG>ggA	p.G368G		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	368					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CTTCCACAGTCCCAACCTCAC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	156	164			NA	NA	9		NA											NA				135277105		2203	4300	6503	SO:0001819	synonymous_variant			BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482	7270	7270			12397	protein-coding gene	gene with protein product		600777			NA	7597036	Standard	NM_007344	NM_007344	NA	Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.1104G>A	9.37:g.135277105C>T		NA	A1L160|Q4VXF3|Q58EY2|Q6P5T5	37	CCDS6948.1																																																																																			TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054784.2		-	ENST00000334270.2	Silent	SNP	9 : 135277105 - 135277105 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	880	153
LRRC4	64101	broad.mit.edu	37	7	127670198	127670198	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127670198C>T	ENST00000249363.3	-	2	753	c.496G>A	c.(496-498)Gcc>Acc	p.A166T	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	166						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		CGGTTGAAGGCGTAAGAGGGG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	70	69			NA	NA	7		NA											NA				127670198		2203	4300	6503	SO:0001583	missense			AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594	64101	64101		Immunoglobulin superfamily / I-set domain containing	15586	protein-coding gene	gene with protein product		610486	leucine-rich repeat-containing 4		NA	12969517	Standard	NM_022143	NM_022143	NA	Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.496G>A	7.37:g.127670198C>T	ENSP00000249363:p.Ala166Thr	NA	A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	37	CCDS5799.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412267	0.62511	.	.	ENSG00000128594	ENST00000249363	D	0.92752	-3.1	4.44	4.44	0.53790	.	0.000000	0.64402	D	0.000001	D	0.93396	0.7894	L	0.47078	1.49	0.80722	D	1	D	0.71674	0.998	D	0.65773	0.938	D	0.92091	0.5680	10	0.31617	T	0.26	.	14.6035	0.68460	0.0:1.0:0.0:0.0	.	166	Q9HBW1	LRRC4_HUMAN	T	166	ENSP00000249363:A166T	ENSP00000249363:A166T	A	-	1	0	LRRC4	127457434	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	5.841000	0.69409	2.250000	0.74265	0.655000	0.94253	GCC	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349170.1		-	ENST00000249363.3	Missense_Mutation	SNP	7 : 127670198 - 127670198 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	620	80
HAO1	54363	broad.mit.edu	37	20	7886939	7886939	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:7886939G>A	ENST00000378789.3	-	4	634	c.583C>T	c.(583-585)Cct>Tct	p.P195S		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	195	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TTTTCCTCAGGAGAAAATGAT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	80	80			NA	NA	20		NA											NA				7886939		2203	4300	6503	SO:0001583	missense			AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	54363	54363	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1	NA	9891009	Standard		NM_017545	NA	Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.583C>T	20.37:g.7886939G>A	ENSP00000368066:p.Pro195Ser	NA	Q14CQ0|Q9UPZ0|Q9Y3I7	37	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	G	0.862	-0.734970	0.03111	.	.	ENSG00000101323	ENST00000378789	T	0.32988	1.43	5.54	3.37	0.38596	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.247105	0.42172	N	0.000751	T	0.13114	0.0318	N	0.17564	0.495	0.39356	D	0.965848	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.10543	-1.0625	10	0.08599	T	0.76	21.5237	3.2671	0.06869	0.3628:0.2371:0.4001:0.0	.	195;195	A8K058;Q9UJM8	.;HAOX1_HUMAN	S	195	ENSP00000368066:P195S	ENSP00000368066:P195S	P	-	1	0	HAO1	7834939	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	2.344000	0.44010	1.321000	0.45227	0.591000	0.81541	CCT	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077926.2		-	ENST00000378789.3	Missense_Mutation	SNP	20 : 7886939 - 7886939 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	57
SCFD2	152579	broad.mit.edu	37	4	53786923	53786923	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:53786923G>A	ENST00000401642.3	-	6	1809	c.1676C>T	c.(1675-1677)tCt>tTt	p.S559F	SCFD2_ENST00000388940.4_Missense_Mutation_p.S559F	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	559					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AACATATACAGACTTAAACTG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	98	97			NA	NA	4		NA											NA				53786923		2203	4300	6503	SO:0001583	missense			AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178	152579	152579			30676	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152540	NM_152540	NA	Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.1676C>T	4.37:g.53786923G>A	ENSP00000384182:p.Ser559Phe	NA	Q8N5F3|Q8N8H0|Q96ED3	37	CCDS33984.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553179	0.65425	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	T;T	0.78816	-1.11;-1.21	4.81	4.81	0.61882	.	0.053112	0.85682	D	0.000000	D	0.85137	0.5628	M	0.61703	1.905	0.50467	D	0.999871	D;D	0.69078	0.997;0.997	D;D	0.83275	0.994;0.996	D	0.83956	0.0319	10	0.40728	T	0.16	.	13.5539	0.61749	0.0:0.0:1.0:0.0	.	559;559	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	F	559	ENSP00000384182:S559F;ENSP00000373592:S559F	ENSP00000373592:S559F	S	-	2	0	SCFD2	53481680	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	5.436000	0.66538	2.659000	0.90383	0.561000	0.74099	TCT	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361311.3		-	ENST00000401642.3	Missense_Mutation	SNP	4 : 53786923 - 53786923 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	390	65
C7orf31	136895	broad.mit.edu	37	7	25181949	25181949	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:25181949G>T	ENST00000409280.1	-	9	1170	c.862C>A	c.(862-864)Ctg>Atg	p.L288M	C7orf31_ENST00000283905.3_Missense_Mutation_p.L288M			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	288										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						ATGGGCCCCAGACCTTAATGG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	78	81			NA	NA	7		NA											NA				25181949		2203	4300	6503	SO:0001583	missense			AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790	136895	136895			21722	protein-coding gene	gene with protein product					NA		Standard	NM_138811	NM_138811	NA	Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.862C>A	7.37:g.25181949G>T	ENSP00000386604:p.Leu288Met	NA	A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	37	CCDS5394.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687199	0.48097	.	.	ENSG00000153790	ENST00000409280;ENST00000283905	T;T	0.06528	3.29;3.29	5.48	1.41	0.22369	.	0.446761	0.19074	N	0.123417	T	0.05181	0.0138	L	0.38838	1.175	0.25151	N	0.990429	P	0.37955	0.612	B	0.39503	0.301	T	0.32508	-0.9904	10	0.32370	T	0.25	-37.6172	4.6255	0.12476	0.1732:0.0:0.402:0.4248	.	288	Q8N865	CG031_HUMAN	M	288	ENSP00000386604:L288M;ENSP00000283905:L288M	ENSP00000283905:L288M	L	-	1	2	C7orf31	25148474	0.998000	0.40836	1.000000	0.80357	0.962000	0.63368	0.566000	0.23593	0.773000	0.33404	0.491000	0.48974	CTG	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326929.1		-	ENST00000409280.1	Missense_Mutation	SNP	7 : 25181949 - 25181949 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	46
MFN1	55669	broad.mit.edu	37	3	179069810	179069810	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179069810G>A	ENST00000471841.1	+	3	361	c.235G>A	c.(235-237)Gca>Aca	p.A79T	MFN1_ENST00000280653.7_Missense_Mutation_p.A79T|MFN1_ENST00000263969.5_Missense_Mutation_p.A79T	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	79					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CATGAAGGTGGCATTTTTTGG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	154	152			NA	NA	3		NA											NA				179069810		2203	4300	6503	SO:0001583	missense			AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109	55669	55669			18262	protein-coding gene	gene with protein product		608506			NA	8358434, 11181170	Standard	NM_017927	NM_033540	NA	Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.235G>A	3.37:g.179069810G>A	ENSP00000420617:p.Ala79Thr	NA	B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	37	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095365	0.76870	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000467174;ENST00000263969	D;D;D;D	0.96967	-4.19;-4.19;-4.19;-4.19	5.16	5.16	0.70880	Dynamin, GTPase domain (1);	0.101398	0.64402	D	0.000003	D	0.98324	0.9444	M	0.89095	3.005	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.70227	0.968;0.938	D	0.98423	1.0578	10	0.46703	T	0.11	-9.1443	19.0061	0.92851	0.0:0.0:1.0:0.0	.	107;79	Q4AEJ4;Q8IWA4	.;MFN1_HUMAN	T	79	ENSP00000420617:A79T;ENSP00000280653:A79T;ENSP00000419134:A79T;ENSP00000263969:A79T	ENSP00000263969:A79T	A	+	1	0	MFN1	180552504	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	9.366000	0.97143	2.571000	0.86741	0.467000	0.42956	GCA	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348654.2		+	ENST00000471841.1	Missense_Mutation	SNP	3 : 179069810 - 179069810 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1002	166
PIR	8544	broad.mit.edu	37	X	15403175	15403175	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15403175T>G	ENST00000380421.3	-	10	1284	c.824A>C	c.(823-825)aAa>aCa	p.K275T	PIR_ENST00000380420.5_Missense_Mutation_p.K275T	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)	275					transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					AAACCCATTTTTTGCGTTTCT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(180;1587 2015 10555 34192 51653)							NA				0													137	119	125			NA	NA	X		NA											NA				15403175		2202	4300	6502	SO:0001583	missense			Y07868	CCDS14167.1	Xp22.31	2008-02-05			ENSG00000087842	ENSG00000087842	8544	8544			30048	protein-coding gene	gene with protein product		300931			NA	9079676	Standard	NM_003662	NM_003662	NA	Approved		uc004cwv.3	O00625	OTTHUMG00000021176	ENST00000380421.3:c.824A>C	X.37:g.15403175T>G	ENSP00000369786:p.Lys275Thr	NA	Q5U0G0|Q6FHD2	37	CCDS14167.1	.	.	.	.	.	.	.	.	.	.	T	7.107	0.575318	0.13623	.	.	ENSG00000087842	ENST00000380420;ENST00000380421	T;T	0.44881	0.91;0.91	5.28	4.09	0.47781	Cupin, RmlC-type (1);Pirin, C-terminal (1);	0.302120	0.37178	N	0.002203	T	0.22205	0.0535	N	0.13140	0.3	0.29606	N	0.847304	B	0.15141	0.012	B	0.21151	0.033	T	0.07443	-1.0772	10	0.27082	T	0.32	-0.8345	5.3461	0.16010	0.0:0.0995:0.1951:0.7054	.	275	O00625	PIR_HUMAN	T	275	ENSP00000369785:K275T;ENSP00000369786:K275T	ENSP00000369785:K275T	K	-	2	0	PIR	15313096	0.943000	0.32029	0.989000	0.46669	0.372000	0.29890	0.392000	0.20801	1.871000	0.54225	0.430000	0.28490	AAA	PIR-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055863.1		-	ENST00000380421.3	Missense_Mutation	SNP	X : 15403175 - 15403175 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	431	24
SPATA7	55812	broad.mit.edu	37	14	88904553	88904553	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88904553C>T	ENST00000556553.1	+	12	2050	c.1491C>T	c.(1489-1491)gaC>gaT	p.D497D	SPATA7_ENST00000356583.5_Silent_p.D497D|SPATA7_ENST00000393545.4_Silent_p.D529D|SPATA7_ENST00000045347.7_Intron			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	529					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						GTATTTCAGACAGTTTAACAG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	76	77			NA	NA	14		NA											NA				88904553		2203	4300	6503	SO:0001819	synonymous_variant			AF144487	CCDS9883.1, CCDS32132.1	14q31.3	2011-02-17				ENSG00000042317	55812	55812			20423	protein-coding gene	gene with protein product		609868	Leber congenital amaurosis 3	LCA3	NA	9799089, 19268277	Standard		NM_018418	NA	Approved	HSD3	uc001xwq.3	Q9P0W8		ENST00000556553.1:c.1491C>T	14.37:g.88904553C>T		NA	Q5BKY5|Q8WX30|Q96HF3|Q9H0X0|Q9P0W7	37	CCDS32132.1																																																																																			SPATA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410171.2		+	ENST00000556553.1	Silent	SNP	14 : 88904553 - 88904553 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	396	52
DNAJC13	23317	broad.mit.edu	37	3	132169692	132169692	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132169692G>A	ENST00000260818.6	+	6	785		c.e6+1		DNAJC13_ENST00000486798.1_Splice_Site	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	NA							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TAGTAGATTGGTAAGTACTAT	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	41	39			NA	NA	3		NA											NA				132169692		2202	4291	6493	SO:0001630	splice_region_variant			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246	23317	23317		Heat shock proteins / DNAJ (HSP40)	30343	protein-coding gene	gene with protein product		614334			NA	12438707	Standard	NM_015268	NM_015268	NA	Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.537+1G>A	3.37:g.132169692G>A		NA	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	37	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540277	0.85917	.	.	ENSG00000138246	ENST00000260818	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0371	0.97565	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAJC13	133652382	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.593000	0.98250	2.734000	0.93682	0.655000	0.94253	.	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356807.2	Intron	+	ENST00000260818.6	Splice_Site	SNP	3 : 132169692 - 132169692 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	312	61
GLT1D1	144423	broad.mit.edu	37	12	129360481	129360481	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:129360481C>T	ENST00000442111.2	+	2	179	c.91C>T	c.(91-93)Cac>Tac	p.H31Y	GLT1D1_ENST00000537468.1_Missense_Mutation_p.H20Y|GLT1D1_ENST00000542193.1_5'UTR|GLT1D1_ENST00000281703.6_Missense_Mutation_p.H31Y			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	31					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		GGCTGCAGGGCACGTGTGCGT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	141	140			NA	NA	12		NA											NA				129360481		2203	4300	6503	SO:0001583	missense				CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948	144423	144423		Glycosyltransferase group 1 domain containing	26483	protein-coding gene	gene with protein product					NA		Standard	NM_144669	NM_144669	NA	Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.91C>T	12.37:g.129360481C>T	ENSP00000394692:p.His31Tyr	NA	Q86XG8	37		.	.	.	.	.	.	.	.	.	.	C	17.16	3.319101	0.60524	.	.	ENSG00000151948	ENST00000442111;ENST00000281703;ENST00000537468	T;T;T	0.49720	0.77;0.77;0.8	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.69993	0.3173	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.80764	0.987;0.994	T	0.71424	-0.4597	10	0.51188	T	0.08	-28.2328	17.2721	0.87105	0.0:1.0:0.0:0.0	.	20;31	F5H088;Q96MS3-2	.;.	Y	31;31;20	ENSP00000394692:H31Y;ENSP00000281703:H31Y;ENSP00000438158:H20Y	ENSP00000281703:H31Y	H	+	1	0	GLT1D1	127926434	0.983000	0.35010	0.236000	0.24074	0.492000	0.33523	4.528000	0.60580	2.583000	0.87209	0.655000	0.94253	CAC	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000399740.1		+	ENST00000442111.2	Missense_Mutation	SNP	12 : 129360481 - 129360481 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	856	142
GRSF1	2926	broad.mit.edu	37	4	71693715	71693715	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71693715C>T	ENST00000502323.1	-	6	764	c.503G>A	c.(502-504)cGa>cAa	p.R168Q	GRSF1_ENST00000254799.6_Missense_Mutation_p.R330Q|GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000545193.1_Missense_Mutation_p.R212Q|GRSF1_ENST00000439371.1_Missense_Mutation_p.R168Q			Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	330	RRM 1.				mRNA polyadenylation		mRNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			GACATGTGTTCGAACTTCATT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	139	142			NA	NA	4		NA											NA				71693715		1843	4090	5933	SO:0001583	missense			BC040485	CCDS47069.1, CCDS47070.1	4q13	2013-07-16				ENSG00000132463	2926	2926		RNA binding motif (RRM) containing	4610	protein-coding gene	gene with protein product		604851			NA	8036161	Standard	NM_002092	NM_001098477	NA	Approved		uc010iia.1	Q12849		ENST00000502323.1:c.503G>A	4.37:g.71693715C>T	ENSP00000425430:p.Arg168Gln	NA	Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	37	CCDS47070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.323593|5.323593	0.95708|0.95708	.|.	.|.	ENSG00000132463|ENSG00000132463	ENST00000514161|ENST00000254799;ENST00000439371;ENST00000540657;ENST00000499044;ENST00000502323;ENST00000545193	.|T;T;T;T;T	.|0.06371	.|3.31;3.31;3.31;3.31;3.31	6.07|6.07	6.07|6.07	0.98685|0.98685	.|Nucleotide-binding, alpha-beta plait (1);	.|0.268407	.|0.37857	.|N	.|0.001914	T|T	0.14442|0.14442	0.0349|0.0349	N|N	0.24115|0.24115	0.695|0.695	0.50632|0.50632	D|D	0.999887|0.999887	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.79108	.|0.92;0.992	T|T	0.29458|0.29458	-1.0011|-1.0011	6|10	0.13108|0.17369	T|T	0.6|0.5	-0.9839|-0.9839	19.424|19.424	0.94734|0.94734	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|243;330	.|B7Z5F9;Q12849	.|.;GRSF1_HUMAN	K|Q	267|330;168;262;303;168;212	.|ENSP00000254799:R330Q;ENSP00000389219:R168Q;ENSP00000427354:R303Q;ENSP00000425430:R168Q;ENSP00000443380:R212Q	ENSP00000427644:E95K|ENSP00000254799:R330Q	E|R	-|-	1|2	0|0	GRSF1|GRSF1	71912579|71912579	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	2.468000|2.468000	0.45102|0.45102	2.890000|2.890000	0.99128|0.99128	0.585000|0.585000	0.79938|0.79938	GAA|CGA	GRSF1-006	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362647.2		-	ENST00000502323.1	Missense_Mutation	SNP	4 : 71693715 - 71693715 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	357	72
GBF1	8729	broad.mit.edu	37	10	104136509	104136509	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104136509C>T	ENST00000369983.3	+	32	4497	c.4237C>T	c.(4237-4239)Ctc>Ttc	p.L1413F		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1413					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CAACTTTGAGCTCTGCGTCAA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	76	77			NA	NA	10		NA											NA				104136509		2203	4300	6503	SO:0001583	missense			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862	8729	8729			4181	protein-coding gene	gene with protein product		603698	golgi-specific brefeldin A resistance factor 1		NA	9828135	Standard		NM_004193	NA	Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.4237C>T	10.37:g.104136509C>T	ENSP00000359000:p.Leu1413Phe	NA	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	37	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032462	0.54790	.	.	ENSG00000107862	ENST00000369983	T	0.11495	2.77	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.24431	0.0592	M	0.62723	1.935	0.80722	D	1	D;D;D	0.71674	0.998;0.993;0.995	P;P;P	0.59221	0.854;0.733;0.795	T	0.04551	-1.0943	10	0.09843	T	0.71	-13.8769	18.4763	0.90793	0.0:1.0:0.0:0.0	.	1413;1413;1413	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	F	1413	ENSP00000359000:L1413F	ENSP00000359000:L1413F	L	+	1	0	GBF1	104126499	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.651000	0.83577	2.598000	0.87819	0.462000	0.41574	CTC	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050051.1		+	ENST00000369983.3	Missense_Mutation	SNP	10 : 104136509 - 104136509 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	364	65
APH1A	51107	broad.mit.edu	37	1	150240131	150240131	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150240131G>A	ENST00000360244.4	-	3	835	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	APH1A_ENST00000414276.2_Intron|APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000369109.3_Missense_Mutation_p.R115C	NM_016022.3	NP_057106.2	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	115					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCATCTGGCGGATGGAGATG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	42	40			NA	NA	1		NA											NA				150240131		1968	4158	6126	SO:0001583	missense			AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362	51107	51107			29509	protein-coding gene	gene with protein product		607629	anterior pharynx defective 1 homolog A (C. elegans)		NA	10810093, 12110170	Standard	NM_016022	NM_001077628	NA	Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000360244.4:c.343C>T	1.37:g.150240131G>A	ENSP00000353380:p.Arg115Cys	NA	Q5TB23|Q969R6|Q9BVG0|Q9Y386	37	CCDS41391.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113317	0.77210	.	.	ENSG00000117362	ENST00000369109;ENST00000360244;ENST00000236017	T;T;T	0.48522	0.81;0.81;0.81	4.98	4.98	0.66077	.	0.139815	0.49916	D	0.000132	T	0.61677	0.2366	M	0.80028	2.48	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	P;P;D;D	0.65874	0.81;0.857;0.912;0.939	T	0.62120	-0.6921	10	0.40728	T	0.16	-4.3304	15.7896	0.78343	0.0:0.0:1.0:0.0	.	58;115;115;115	B4DUG7;Q96BI3-2;Q5TB22;Q96BI3	.;.;.;APH1A_HUMAN	C	115;115;58	ENSP00000358105:R115C;ENSP00000353380:R115C;ENSP00000236017:R58C	ENSP00000236017:R58C	R	-	1	0	APH1A	148506755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.833000	0.69349	2.583000	0.87209	0.491000	0.48974	CGC	APH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000035047.1		-	ENST00000360244.4	Missense_Mutation	SNP	1 : 150240131 - 150240131 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	108	16
EMC4	51234	broad.mit.edu	37	15	34520760	34520760	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34520760G>A	ENST00000559421.1	+	3	250				EMC4_ENST00000559078.1_Intron|EMC4_ENST00000267750.4_Silent_p.S162S|EMC4_ENST00000557879.1_3'UTR|EMC4_ENST00000249209.4_Intron					ER membrane protein complex subunit 4	NA								p.S162S(1)			NA						CACATGCATCGGATTGGTTAG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)						G		0,4402		0,0,2201	221	199	206		486	3.3	1	15		206	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	TMEM85	NM_016454.2		0,1,6498	AA,AG,GG	NA	0.0116,0.0,0.0077		162/184	34520760	1,12997	2201	4298	6499	SO:0001627	intron_variant			BC016348	CCDS10035.1, CCDS66732.1	15q14	2012-05-23	2012-05-23	2012-05-23	ENSG00000128463	ENSG00000128463	51234	51234			28032	protein-coding gene	gene with protein product			transmembrane protein 85	TMEM85	NA	18586032, 22119785	Standard	NM_016454	NM_001286420	NA	Approved	FLJ90746, MGC24415, PIG17	uc001zhq.3	Q5J8M3	OTTHUMG00000129411	ENST00000559421.1:c.202-1194G>A	15.37:g.34520760G>A		NA		37																																																																																				EMC4-012	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000417985.1		+	ENST00000559421.1	Intron	SNP	15 : 34520760 - 34520760 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	734	156
EDN1	1906	broad.mit.edu	37	6	12292728	12292728	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:12292728G>A	ENST00000379375.5	+	2	486	c.219G>A	c.(217-219)tgG>tgA	p.W73*		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	73		Cleavage; by KEL.			artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				ACATCATTTGGGTCAACACTC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	75	77			NA	NA	6		NA											NA				12292728		2203	4300	6503	SO:0001587	stop_gained			S56805	CCDS4522.1	6p24.1	2014-03-19			ENSG00000078401	ENSG00000078401	1906	1906		Endogenous ligands	3176	protein-coding gene	gene with protein product		131240			NA		Standard	NM_001955	NM_001168319	NA	Approved	ET1	uc003nae.4	P05305	OTTHUMG00000014266	ENST00000379375.5:c.219G>A	6.37:g.12292728G>A	ENSP00000368683:p.Trp73*	NA	Q96DA1	37	CCDS4522.1	.	.	.	.	.	.	.	.	.	.	G	40	8.185874	0.98696	.	.	ENSG00000078401	ENST00000379375	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3417	20.0417	0.97594	0.0:0.0:1.0:0.0	.	.	.	.	X	73	.	ENSP00000368683:W73X	W	+	3	0	EDN1	12400714	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.484000	0.97940	2.736000	0.93811	0.655000	0.94253	TGG	EDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039872.1		+	ENST00000379375.5	Nonsense_Mutation	SNP	6 : 12292728 - 12292728 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	475	76
DDI1	414301	broad.mit.edu	37	11	103907738	103907738	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103907738C>T	ENST00000302259.3	+	1	431	c.188C>T	c.(187-189)tCc>tTc	p.S63F	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	63	Ubiquitin-like.				proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TCCCTGGGCTCCTACGGCCTC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	140	144			NA	NA	11		NA											NA				103907738		2202	4299	6501	SO:0001583	missense				CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967	414301	414301			18961	protein-coding gene	gene with protein product			DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)		NA		Standard	NM_001001711	NM_001001711	NA	Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.188C>T	11.37:g.103907738C>T	ENSP00000302805:p.Ser63Phe	NA	Q7Z4U6|Q8WTS3	37	CCDS31660.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.59|14.59	2.580993|2.580993	0.46006|0.46006	.|.	.|.	ENSG00000170962|ENSG00000170967	ENST00000529268|ENST00000302259	T|T	0.36520|0.74002	1.25|-0.8	4.97|4.97	4.04|4.04	0.47022|0.47022	.|Ubiquitin supergroup (1);Ubiquitin (2);	.|0.318671	.|0.34555	.|N	.|0.003868	D|D	0.83505|0.83505	0.5269|0.5269	M|M	0.75447|0.75447	2.3|2.3	0.30488|0.30488	N|N	0.771676|0.771676	.|D	.|0.69078	.|0.997	.|D	.|0.69824	.|0.966	T|T	0.82246|0.82246	-0.0552|-0.0552	7|10	0.72032|0.72032	D|D	0.01|0.01	-8.519|-8.519	10.7048|10.7048	0.45948|0.45948	0.1902:0.8098:0.0:0.0|0.1902:0.8098:0.0:0.0	.|.	.|63	.|Q8WTU0	.|DDI1_HUMAN	E|F	6|63	ENSP00000432909:G6E|ENSP00000302805:S63F	ENSP00000432909:G6E|ENSP00000302805:S63F	G|S	-|+	2|2	0|0	PDGFD|DDI1	103412948|103412948	0.998000|0.998000	0.40836|0.40836	0.995000|0.995000	0.50966|0.50966	0.333000|0.333000	0.28666|0.28666	1.837000|1.837000	0.39201|0.39201	1.417000|1.417000	0.47077|0.47077	0.655000|0.655000	0.94253|0.94253	GGA|TCC	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387326.1		+	ENST00000302259.3	Missense_Mutation	SNP	11 : 103907738 - 103907738 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1037	201
HK3	3101	broad.mit.edu	37	5	176317669	176317669	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176317669G>A	ENST00000292432.5	-	6	688	c.597C>T	c.(595-597)gtC>gtT	p.V199V		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	199	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCAGCAGCTGGACCACATCCT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													220	210	214			NA	NA	5		NA											NA				176317669		2203	4300	6503	SO:0001819	synonymous_variant				CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	3101	3101	2.7.1.1		4925	protein-coding gene	gene with protein product		142570			NA	8812439	Standard		NM_002115	NA	Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.597C>T	5.37:g.176317669G>A		NA	Q8N1E7	37	CCDS4407.1																																																																																			HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253428.1		-	ENST00000292432.5	Silent	SNP	5 : 176317669 - 176317669 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1980	274
TPH2	121278	broad.mit.edu	37	12	72425041	72425041	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72425041G>A	ENST00000333850.3	+	10	1309	c.1168G>A	c.(1168-1170)Gcc>Acc	p.A390T		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	390					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TTTGCAGCACGCCCTTTCTGA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	111	108			NA	NA	12		NA											NA				72425041		2203	4300	6503	SO:0001583	missense			AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	121278	121278	1.14.16.4		20692	protein-coding gene	gene with protein product		607478			NA	12511643	Standard	NM_173353	NM_173353	NA	Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.1168G>A	12.37:g.72425041G>A	ENSP00000329093:p.Ala390Thr	NA	A6NGA4|Q14CB0	37	CCDS31859.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.953843	0.92660	.	.	ENSG00000139287	ENST00000333850	D	0.99758	-6.65	5.56	5.56	0.83823	Aromatic amino acid hydroxylase, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.99684	0.9881	M	0.93106	3.38	0.80722	D	1	D	0.53151	0.958	P	0.48627	0.584	D	0.98415	1.0574	10	0.72032	D	0.01	-17.6951	19.8892	0.96923	0.0:0.0:1.0:0.0	.	390	Q8IWU9	TPH2_HUMAN	T	390	ENSP00000329093:A390T	ENSP00000329093:A390T	A	+	1	0	TPH2	70711308	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.929000	0.87595	2.777000	0.95525	0.591000	0.81541	GCC	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405234.1		+	ENST00000333850.3	Missense_Mutation	SNP	12 : 72425041 - 72425041 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	544	86
ZNF347	84671	broad.mit.edu	37	19	53645126	53645126	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53645126A>G	ENST00000452676.2	-	5	1384	c.958T>C	c.(958-960)Tgt>Cgt	p.C320R	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.C320R|ZNF347_ENST00000334197.7_Missense_Mutation_p.C319R	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CACTCATTACATTTGTAACGT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(64;205 1597 17324 45721)							NA				0													153	145	148			NA	NA	19		NA											NA				53645126		2203	4300	6503	SO:0001583	missense			AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937	84671	84671		Zinc fingers, C2H2-type, -	16447	protein-coding gene	gene with protein product					NA		Standard	NM_032584	NM_032584	NA	Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000452676.2:c.958T>C	19.37:g.53645126A>G	ENSP00000405218:p.Cys320Arg	NA	B9EG59|Q8TCN1	37	CCDS54314.1	.	.	.	.	.	.	.	.	.	.	A	14.98	2.696074	0.48202	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	D;D	0.85258	-1.96;-1.96	2.85	2.85	0.33270	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94565	0.8249	H	0.98525	4.255	0.37637	D	0.921891	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94998	0.8140	9	0.72032	D	0.01	.	9.1425	0.36912	1.0:0.0:0.0:0.0	.	320;319	G5E9N4;Q96SE7	.;ZN347_HUMAN	R	319;320	ENSP00000334146:C319R;ENSP00000405218:C320R	ENSP00000334146:C319R	C	-	1	0	ZNF347	58336938	0.623000	0.27094	0.005000	0.12908	0.003000	0.03518	4.785000	0.62418	1.326000	0.45319	0.533000	0.62120	TGT	ZNF347-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464172.2		-	ENST00000452676.2	Missense_Mutation	SNP	19 : 53645126 - 53645126 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	741	72
ADCY9	115	broad.mit.edu	37	16	4029235	4029235	+	Missense_Mutation	SNP	C	C	T	rs142198070		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4029235C>T	ENST00000294016.3	-	8	3099	c.2561G>A	c.(2560-2562)cGc>cAc	p.R854H		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	854					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTCCAGCAGGCGCTTGGTGCA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG	1,4393	2.1+/-5.4	0,1,2196	60	60	60		2561	2.1	1	16	dbSNP_134	60	0,8600		0,0,4300	no	missense	ADCY9	NM_001116.3	29	0,1,6496	TT,TC,CC	NA	0.0,0.0228,0.0077	benign	854/1354	4029235	1,12993	2197	4300	6497	SO:0001583	missense			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	115	115	4.6.1.1	Adenylate cyclases	240	protein-coding gene	gene with protein product		603302			NA	9628827	Standard		NM_001116	NA	Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2561G>A	16.37:g.4029235C>T	ENSP00000294016:p.Arg854His	NA	A7E2V5|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	37	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577186	0.45902	2.28E-4	0.0	ENSG00000162104	ENST00000294016	D	0.83335	-1.71	5.54	2.08	0.27032	.	0.544492	0.20631	N	0.088598	T	0.69700	0.3140	L	0.27053	0.805	0.30493	N	0.771183	B	0.09022	0.002	B	0.04013	0.001	T	0.58446	-0.7635	10	0.13470	T	0.59	.	12.0346	0.53417	0.0:0.7791:0.0:0.2209	.	854	O60503	ADCY9_HUMAN	H	854	ENSP00000294016:R854H	ENSP00000294016:R854H	R	-	2	0	ADCY9	3969236	0.002000	0.14202	1.000000	0.80357	0.997000	0.91878	0.107000	0.15375	0.713000	0.32060	0.655000	0.94253	CGC	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438076.1		-	ENST00000294016.3	Missense_Mutation	SNP	16 : 4029235 - 4029235 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	466	79
SYNE1	23345	broad.mit.edu	37	6	152462355	152462355	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152462355G>A	ENST00000367255.5	-	139	25830	c.25229C>T	c.(25228-25230)aCc>aTc	p.T8410I	SYNE1_ENST00000354674.4_Missense_Mutation_p.T588I|SYNE1_ENST00000341594.5_Missense_Mutation_p.T8022I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Missense_Mutation_p.T2934I|SYNE1_ENST00000423061.1_Missense_Mutation_p.T8362I|SYNE1_ENST00000539504.1_Missense_Mutation_p.T565I|SYNE1_ENST00000448038.1_Missense_Mutation_p.T8362I|SYNE1_ENST00000265368.4_Missense_Mutation_p.T8410I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8410					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGGGTTTCGGTACTATGCAG	0.483		NA								HNSCC(10;0.0054)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													184	157	166			NA	NA	6		NA											NA				152462355		2203	4300	6503	SO:0001583	missense			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018	23345	23345			17089	protein-coding gene	gene with protein product	myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1	608441	chromosome 6 open reading frame 98	C6orf98	NA	9872452, 10878022	Standard	NM_182961	NM_182961	NA	Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.25229C>T	6.37:g.152462355G>A	ENSP00000356224:p.Thr8410Ile	NA	O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035821	0.54896	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.54071	0.68;4.82;1.7;0.7;0.59;0.69;0.77;2.74;1.85;4.83	5.84	5.84	0.93424	.	0.000000	0.56097	D	0.000029	T	0.68026	0.2956	M	0.74881	2.28	0.40134	D	0.97675	D;D;D;D;B	0.71674	0.996;0.996;0.998;0.996;0.399	D;D;D;D;B	0.71414	0.94;0.94;0.973;0.94;0.265	T	0.64232	-0.6456	10	0.37606	T	0.19	.	20.1277	0.97990	0.0:0.0:1.0:0.0	.	8410;8410;8362;8362;612	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	I	8410;565;1056;8362;8410;8362;8022;2934;595;590;1355;588	ENSP00000356224:T8410I;ENSP00000441052:T565I;ENSP00000356226:T1056I;ENSP00000396024:T8362I;ENSP00000265368:T8410I;ENSP00000390975:T8362I;ENSP00000341887:T8022I;ENSP00000349276:T2934I;ENSP00000356220:T1355I;ENSP00000346701:T588I	ENSP00000265368:T8410I	T	-	2	0	SYNE1	152504048	1.000000	0.71417	0.039000	0.18376	0.534000	0.34807	6.160000	0.71862	2.755000	0.94549	0.563000	0.77884	ACC	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334755.2		-	ENST00000367255.5	Missense_Mutation	SNP	6 : 152462355 - 152462355 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	677	121
SLITRK1	114798	broad.mit.edu	37	13	84453725	84453725	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:84453725C>T	ENST00000377084.2	-	1	2803	c.1918G>A	c.(1918-1920)Gtg>Atg	p.V640M		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	640						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AGGATAAACACGAGCATGCCC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	64	69			NA	NA	13		NA											NA				84453725		2203	4300	6503	SO:0001583	missense			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235	114798	114798			20297	protein-coding gene	gene with protein product		609678	leucine rich repeat containing 12	LRRC12	NA	14557068, 12975309	Standard	NM_052910	NM_001281503	NA	Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1918G>A	13.37:g.84453725C>T	ENSP00000366288:p.Val640Met	NA	Q5U5I6|Q96SF9	37	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111056	0.77210	.	.	ENSG00000178235	ENST00000377084	T	0.64991	-0.13	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.64538	0.2607	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.72865	-0.4163	10	0.87932	D	0	-13.4456	18.3497	0.90335	0.0:1.0:0.0:0.0	.	640	Q96PX8	SLIK1_HUMAN	M	640	ENSP00000366288:V640M	ENSP00000366288:V640M	V	-	1	0	SLITRK1	83351726	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.047000	0.71038	2.756000	0.94617	0.655000	0.94253	GTG	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045396.1		-	ENST00000377084.2	Missense_Mutation	SNP	13 : 84453725 - 84453725 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	182	34
MIS18BP1	55320	broad.mit.edu	37	14	45693599	45693599	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45693599G>T	ENST00000310806.4	-	11	2649	c.2191C>A	c.(2191-2193)Ctt>Att	p.L731I		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	731					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TCCTTTTCAAGGTTAGATATT	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	72	71			NA	NA	14		NA											NA				45693599		2203	4300	6503	SO:0001583	missense			AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534	55320	55320			20190	protein-coding gene	gene with protein product	kinetochore null 2 homolog (C. elegans)		chromosome 14 open reading frame 106	C14orf106	NA	17339379, 17199038	Standard		NM_018353	NA	Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2191C>A	14.37:g.45693599G>T	ENSP00000309790:p.Leu731Ile	NA	D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	37	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	G	5.683	0.310554	0.10733	.	.	ENSG00000129534	ENST00000310806	T	0.17370	2.28	5.72	-1.52	0.08637	.	1.308880	0.04551	N	0.389881	T	0.11110	0.0271	N	0.22421	0.69	0.09310	N	1	P	0.38335	0.627	B	0.32022	0.139	T	0.35101	-0.9802	10	0.40728	T	0.16	0.9183	9.64	0.39833	0.5702:0.0:0.4298:0.0	.	731	Q6P0N0	M18BP_HUMAN	I	731	ENSP00000309790:L731I	ENSP00000309790:L731I	L	-	1	0	MIS18BP1	44763349	0.001000	0.12720	0.001000	0.08648	0.045000	0.14185	-0.051000	0.11885	-0.254000	0.09500	-0.150000	0.13652	CTT	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276795.2		-	ENST00000310806.4	Missense_Mutation	SNP	14 : 45693599 - 45693599 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	473	88
KDM4A	9682	broad.mit.edu	37	1	44163674	44163674	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44163674A>C	ENST00000372396.3	+	19	2965	c.2831A>C	c.(2830-2832)gAg>gCg	p.E944A		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	944	Tudor 1.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						CTTTATCCTGAGGACATAGTG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	98	99			NA	NA	1		NA											NA				44163674		2203	4300	6503	SO:0001583	missense			AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135	9682	9682		Chromatin-modifying enzymes / K-demethylases, Tudor domain containing	22978	protein-coding gene	gene with protein product	jumonji C domain-containing histone demethylase 3A, tudor domain containing 14A	609764	jumonji domain containing 2, jumonji domain containing 2A	JMJD2, JMJD2A	NA	9734811, 15138608	Standard	NM_014663	XM_005271354	NA	Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.2831A>C	1.37:g.44163674A>C	ENSP00000361473:p.Glu944Ala	NA	Q5VVB1	37	CCDS491.1	.	.	.	.	.	.	.	.	.	.	A	33	5.263999	0.95399	.	.	ENSG00000066135	ENST00000372396	T	0.20598	2.06	6.08	6.08	0.98989	Tudor domain (1);	0.043479	0.85682	D	0.000000	T	0.32224	0.0822	M	0.80982	2.52	0.80722	D	1	P	0.52316	0.952	B	0.41860	0.368	T	0.31081	-0.9956	10	0.66056	D	0.02	-26.9569	16.6438	0.85155	1.0:0.0:0.0:0.0	.	944	O75164	KDM4A_HUMAN	A	944	ENSP00000361473:E944A	ENSP00000361473:E944A	E	+	2	0	KDM4A	43936261	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.333000	0.79357	0.533000	0.62120	GAG	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019960.1		+	ENST00000372396.3	Missense_Mutation	SNP	1 : 44163674 - 44163674 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	75
TP63	8626	broad.mit.edu	37	3	189597951	189597951	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:189597951G>A	ENST00000418709.2	+	11	1476	c.1448G>A	c.(1447-1449)cGa>cAa	p.R483Q	TP63_ENST00000392461.3_Intron|TP63_ENST00000437221.1_Missense_Mutation_p.R389Q|TP63_ENST00000392460.3_Intron|TP63_ENST00000449992.1_Intron|TP63_ENST00000354600.5_Intron|TP63_ENST00000320472.5_Intron|TP63_ENST00000382063.4_Intron|TP63_ENST00000264731.3_Intron|TP63_ENST00000440651.2_Intron|TP63_ENST00000392463.2_Intron|TP63_ENST00000456148.1_Intron	NM_001114979.1	NP_001108451.1	Q9H3D4	P63_HUMAN	tumor protein p63	0					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCCCCAAACCGATCAGTGTAC	0.453		NA								HNSCC(45;0.13)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	96	99			NA	NA	3		NA											NA				189597951		1568	3582	5150	SO:0001583	missense			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282	8626	8626			15979	protein-coding gene	gene with protein product		603273	tumor protein p73-like, tumor protein p53-like, tumor protein p53-competing protein	TP73L, TP53L, TP53CP	NA	9774969, 9662378, 11181441, 11181451	Standard	NM_003722	NM_003722	NA	Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000418709.2:c.1448G>A	3.37:g.189597951G>A	ENSP00000407144:p.Arg483Gln	NA	O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	37	CCDS46977.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.183900	0.38609	.	.	ENSG00000073282	ENST00000418709;ENST00000437221	D;D	0.99680	-6.35;-6.38	5.79	2.15	0.27550	.	.	.	.	.	D	0.98074	0.9365	.	.	.	0.80722	D	1	B;B	0.15719	0.014;0.014	B;B	0.17979	0.003;0.02	D	0.97189	0.9856	7	.	.	.	.	6.8668	0.24098	0.2163:0.3309:0.4529:0.0	.	389;483	Q9H3D4-6;Q9H3D4-5	.;.	Q	483;389	ENSP00000407144:R483Q;ENSP00000392488:R389Q	.	R	+	2	0	TP63	191080645	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	0.536000	0.23129	0.512000	0.28257	0.655000	0.94253	CGA	TP63-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343866.1		+	ENST00000418709.2	Missense_Mutation	SNP	3 : 189597951 - 189597951 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	387	71
GTF3C1	2975	broad.mit.edu	37	16	27481690	27481690	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27481690G>T	ENST00000356183.4	-	31	4568	c.4553C>A	c.(4552-4554)aCc>aAc	p.T1518N	GTF3C1_ENST00000561623.1_Missense_Mutation_p.T1518N	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1518						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CGTGCAGATGGTGCTTGGAAA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	124	121			NA	NA	16		NA											NA				27481690		2197	4300	6497	SO:0001583	missense			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235	2975	2975		General transcription factors	4664	protein-coding gene	gene with protein product		603246	general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )		NA	8164661, 8127861	Standard	NM_001520	NM_001520	NA	Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.4553C>A	16.37:g.27481690G>T	ENSP00000348510:p.Thr1518Asn	NA	B2RP21|Q12838|Q6DKN9|Q9Y4W9	37	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658758	0.67586	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.22945	1.93	5.57	5.57	0.84162	.	0.120412	0.64402	D	0.000017	T	0.38108	0.1028	M	0.65975	2.015	0.31874	N	0.619404	P;D	0.53312	0.732;0.959	B;P	0.48030	0.202;0.564	T	0.42965	-0.9420	10	0.33940	T	0.23	-12.9464	19.1631	0.93543	0.0:0.0:1.0:0.0	.	1518;1518	Q12789;Q12789-3	TF3C1_HUMAN;.	N	1518;1514	ENSP00000348510:T1518N	ENSP00000348510:T1518N	T	-	2	0	GTF3C1	27389191	1.000000	0.71417	0.822000	0.32727	0.979000	0.70002	6.373000	0.73128	2.618000	0.88619	0.591000	0.81541	ACC	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000433856.1		-	ENST00000356183.4	Missense_Mutation	SNP	16 : 27481690 - 27481690 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	919	26
PALM	5064	broad.mit.edu	37	19	746669	746669	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:746669C>A	ENST00000264560.7	+	8	1081	c.887C>A	c.(886-888)cCt>cAt	p.P296H	PALM_ENST00000338448.5_Missense_Mutation_p.P340H|PALM_ENST00000593172.1_3'UTR	NM_001040134.1	NP_001035224.1	O75781	PALM_HUMAN	paralemmin	340					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		CCCAAGGAGCCTGCACCACCC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	23	24			NA	NA	19		NA											NA				746669		2201	4300	6501	SO:0001583	missense			Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864	5064	5064			8594	protein-coding gene	gene with protein product		608134			NA	9615234, 9813098	Standard	NM_002579	XM_005259565	NA	Approved	KIAA0270	uc002lpm.1	O75781		ENST00000264560.7:c.887C>A	19.37:g.746669C>A	ENSP00000264560:p.Pro296His	NA	O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	37	CCDS32858.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306653	0.40795	.	.	ENSG00000099864	ENST00000338448;ENST00000264560;ENST00000538247	T;T	0.17054	2.3;2.3	4.72	4.72	0.59763	.	0.620673	0.15422	U	0.263170	T	0.22742	0.0549	M	0.72118	2.19	0.30887	N	0.730813	B;B	0.22746	0.074;0.053	B;B	0.22152	0.022;0.038	T	0.08513	-1.0718	10	0.54805	T	0.06	-9.4528	12.4245	0.55538	0.1799:0.8201:0.0:0.0	.	296;340	O75781-2;O75781	.;PALM_HUMAN	H	340;296;205	ENSP00000341911:P340H;ENSP00000264560:P296H	ENSP00000264560:P296H	P	+	2	0	PALM	697669	0.000000	0.05858	0.761000	0.31378	0.168000	0.22595	1.022000	0.30052	2.154000	0.67381	0.462000	0.41574	CCT	PALM-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457591.1		+	ENST00000264560.7	Missense_Mutation	SNP	19 : 746669 - 746669 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	141	32
HSF5	124535	broad.mit.edu	37	17	56557601	56557601	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56557601C>T	ENST00000323777.3	-	2	687	c.578G>A	c.(577-579)cGg>cAg	p.R193Q		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	193						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACGAAATGACCGGTGAAATTG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	65	67			NA	NA	17		NA											NA				56557601		2203	4300	6503	SO:0001583	missense			BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160	124535	124535			26862	protein-coding gene	gene with protein product					NA		Standard	XM_064190	NM_001080439	NA	Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.578G>A	17.37:g.56557601C>T	ENSP00000313243:p.Arg193Gln	NA	Q08EH7|Q8N7V2	37	CCDS32690.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742215	0.89573	.	.	ENSG00000176160	ENST00000412540;ENST00000323777	T	0.49139	0.79	5.62	5.62	0.85841	.	0.000000	0.53938	D	0.000053	T	0.54598	0.1868	N	0.24115	0.695	0.44492	D	0.997434	D	0.76494	0.999	D	0.72625	0.978	T	0.51196	-0.8736	10	0.33940	T	0.23	.	16.3777	0.83410	0.0:1.0:0.0:0.0	.	193	Q4G112	HSF5_HUMAN	Q	93;193	ENSP00000313243:R193Q	ENSP00000313243:R193Q	R	-	2	0	HSF5	53912600	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.274000	0.51631	2.646000	0.89796	0.655000	0.94253	CGG	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444719.1		-	ENST00000323777.3	Missense_Mutation	SNP	17 : 56557601 - 56557601 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	407	84
CSE1L	1434	broad.mit.edu	37	20	47691952	47691952	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47691952T>G	ENST00000262982.2	+	12	1353	c.1230T>G	c.(1228-1230)aaT>aaG	p.N410K	CSE1L_ENST00000396192.3_Missense_Mutation_p.N354K|CSE1L_ENST00000542325.1_Missense_Mutation_p.N193K	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	410					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			GTTATGTTAATTCCATGCTGC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	129	131			NA	NA	20		NA											NA				47691952		2203	4300	6503	SO:0001583	missense			U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207	1434	1434		Exportins	2431	protein-coding gene	gene with protein product	cellular apoptosis susceptibility	601342	chromosome segregation 1 (yeast homolog)-like		NA	8963895, 7479798	Standard	NM_001316	NM_001316	NA	Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.1230T>G	20.37:g.47691952T>G	ENSP00000262982:p.Asn410Lys	NA	B2R5T4|E1P5Y0|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	37	CCDS13412.1	.	.	.	.	.	.	.	.	.	.	T	9.525	1.109234	0.20714	.	.	ENSG00000124207	ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.65916	-0.18;-0.18;-0.18	5.68	3.35	0.38373	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.083086	0.85682	D	0.000000	T	0.42562	0.1208	L	0.31476	0.935	0.58432	D	0.99999	B;B;B;B;B	0.18968	0.002;0.002;0.016;0.032;0.006	B;B;B;B;B	0.16722	0.007;0.012;0.016;0.016;0.012	T	0.15321	-1.0441	10	0.07325	T	0.83	-24.4379	8.1045	0.30877	0.0:0.3166:0.0:0.6834	.	99;193;354;354;410	F5GX54;B4DUC5;A3RLL6;F8W904;P55060	.;.;.;.;XPO2_HUMAN	K	410;193;354	ENSP00000262982:N410K;ENSP00000446477:N193K;ENSP00000379495:N354K	ENSP00000262982:N410K	N	+	3	2	CSE1L	47125359	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.550000	0.45811	0.403000	0.25479	-0.366000	0.07423	AAT	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080345.2		+	ENST00000262982.2	Missense_Mutation	SNP	20 : 47691952 - 47691952 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	549	116
IGSF5	150084	broad.mit.edu	37	21	41137582	41137582	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41137582G>A	ENST00000380588.4	+	3	324	c.221G>A	c.(220-222)aGt>aAt	p.S74N	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	74	Ig-like V-type 1.					integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				TGGGCTCTCAGTGACATGGTG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	72	80			NA	NA	21		NA											NA				41137582		2203	4300	6503	SO:0001583	missense				CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067	150084	150084		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	5952	protein-coding gene	gene with protein product	junctional adhesion molecule 4	610638			NA		Standard		NM_001080444	NA	Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.221G>A	21.37:g.41137582G>A	ENSP00000369962:p.Ser74Asn	NA		37	CCDS33562.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.499102	0.00157	.	.	ENSG00000183067	ENST00000380588	T	0.23348	1.91	3.71	2.54	0.30619	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.810362	0.11545	N	0.553365	T	0.04588	0.0125	N	0.00142	-2.005	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37820	-0.9689	10	0.02654	T	1	-2.3909	7.3042	0.26438	0.8149:0.0:0.1851:0.0	.	74	Q9NSI5	IGSF5_HUMAN	N	74	ENSP00000369962:S74N	ENSP00000369962:S74N	S	+	2	0	IGSF5	40059452	0.005000	0.15991	0.071000	0.20095	0.006000	0.05464	1.999000	0.40806	0.131000	0.18576	-0.381000	0.06696	AGT	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195005.1		+	ENST00000380588.4	Missense_Mutation	SNP	21 : 41137582 - 41137582 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	229	10
WNT2	7472	broad.mit.edu	37	7	116960776	116960776	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116960776C>T	ENST00000265441.3	-	2	454	c.155G>A	c.(154-156)cGg>cAg	p.R52Q	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	52					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		ACACAGCTGCCGCTGGCTGCT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	45	48			NA	NA	7		NA											NA				116960776		2203	4300	6503	SO:0001583	missense			X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989	7472	7472		Wingless-type MMTV integration sites, Endogenous ligands	12780	protein-coding gene	gene with protein product	secreted growth factor	147870		INT1L1	NA	2971536	Standard	NM_003391	NM_003391	NA	Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.155G>A	7.37:g.116960776C>T	ENSP00000265441:p.Arg52Gln	NA	Q75N05|Q9UDP9	37	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	C	35	5.542970	0.96474	.	.	ENSG00000105989	ENST00000265441;ENST00000491214	T;T	0.76448	-1.02;-1.02	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.87748	0.6255	M	0.76433	2.335	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	D	0.86304	0.1682	10	0.38643	T	0.18	.	18.5879	0.91197	0.0:1.0:0.0:0.0	.	52	P09544	WNT2_HUMAN	Q	52	ENSP00000265441:R52Q;ENSP00000419466:R52Q	ENSP00000265441:R52Q	R	-	2	0	WNT2	116748012	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.419000	0.80179	2.691000	0.91804	0.655000	0.94253	CGG	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059749.3		-	ENST00000265441.3	Missense_Mutation	SNP	7 : 116960776 - 116960776 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	159	30
HIST1H3J	8356	broad.mit.edu	37	6	27858533	27858533	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27858533C>T	ENST00000479986.1	-	0	401				HIST1H3J_ENST00000359303.2_Missense_Mutation_p.G13D			P68431	H31_HUMAN	histone cluster 1, H3j	NA					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						TGCCTTGCCGCCGGTAGACTT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	33	32			NA	NA	6		NA											NA				27858533		2192	4287	6479	SO:0001623	5_prime_UTR_variant			Z83737	CCDS4638.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197153	ENSG00000197153	8356	8356		Histones / Replication-dependent	4774	protein-coding gene	gene with protein product		602817	H3 histone family, member J, histone 1, H3j	H3FJ	NA	9439656, 12408966	Standard	NM_003535	NM_003535	NA	Approved	H3/j	uc003nka.3	P68431	OTTHUMG00000016185	ENST00000479986.1:c.-121G>A	6.37:g.27858533C>T		NA	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	37		.	.	.	.	.	.	.	.	.	.	C	13.12	2.141759	0.37825	.	.	ENSG00000197153	ENST00000359303	T	0.46063	0.88	4.06	4.06	0.47325	.	.	.	.	.	T	0.51652	0.1687	.	.	.	0.52501	D	0.999954	.	.	.	.	.	.	T	0.56080	-0.8038	6	0.66056	D	0.02	.	16.036	0.80628	0.0:1.0:0.0:0.0	.	.	.	.	D	13	ENSP00000352252:G13D	ENSP00000352252:G13D	G	-	2	0	HIST1H3J	27966512	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	7.290000	0.78711	2.560000	0.86352	0.655000	0.94253	GGC	HIST1H3J-002	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000331293.1		-	ENST00000479986.1	5'UTR	SNP	6 : 27858533 - 27858533 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	40
ANKS3	124401	broad.mit.edu	37	16	4780014	4780014	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4780014C>T	ENST00000304283.4	-	3	431	c.137G>A	c.(136-138)gGc>gAc	p.G46D	ANKS3_ENST00000446014.2_5'UTR|ANKS3_ENST00000585773.1_Intron|ANKS3_ENST00000592711.1_Missense_Mutation_p.G46D|ANKS3_ENST00000450067.2_5'UTR	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	46										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						TTCATACTGGCCAATGGAAGC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													177	158	164			NA	NA	16		NA											NA				4780014		2197	4300	6497	SO:0001583	missense			AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096	124401	124401		Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	29422	protein-coding gene	gene with protein product					NA	11853319	Standard	NM_133450	NM_133450	NA	Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.137G>A	16.37:g.4780014C>T	ENSP00000304586:p.Gly46Asp	NA	B4DWU4|D3DUE2|Q8TF25	37	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.951772	0.92660	.	.	ENSG00000168096	ENST00000304283	T	0.62232	0.04	5.82	5.82	0.92795	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.83830	0.5339	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86223	0.1632	10	0.72032	D	0.01	-1.4544	19.0811	0.93182	0.0:1.0:0.0:0.0	.	46	Q6ZW76	ANKS3_HUMAN	D	46	ENSP00000304586:G46D	ENSP00000304586:G46D	G	-	2	0	ANKS3	4720015	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	7.466000	0.80914	2.756000	0.94617	0.561000	0.74099	GGC	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251642.3		-	ENST00000304283.4	Missense_Mutation	SNP	16 : 4780014 - 4780014 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1083	159
TATDN2	9797	broad.mit.edu	37	3	10291033	10291033	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10291033G>T	ENST00000287652.4	+	2	1200	c.149G>T	c.(148-150)aGc>aTc	p.S50I	TATDN2_ENST00000448281.2_Missense_Mutation_p.S50I	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	50						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						GGAGGGCCCAGCAGCCCCAAG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	62	58			NA	NA	3		NA											NA				10291033		2202	4299	6501	SO:0001583	missense			D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014	9797	9797			28988	protein-coding gene	gene with protein product					NA	9039502	Standard	XM_376203	NM_014760	NA	Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.149G>T	3.37:g.10291033G>T	ENSP00000287652:p.Ser50Ile	NA	Q3MIL9|Q5BKU0	37	CCDS33698.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.596076	0.28445	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.25250	1.81;1.81	4.16	4.16	0.48862	.	.	.	.	.	T	0.28863	0.0716	L	0.57536	1.79	0.28926	N	0.891843	B	0.32693	0.38	B	0.34180	0.177	T	0.24048	-1.0171	9	0.87932	D	0	-5.437	12.1708	0.54157	0.0:0.0:1.0:0.0	.	50	Q93075	TATD2_HUMAN	I	50	ENSP00000287652:S50I;ENSP00000408736:S50I	ENSP00000287652:S50I	S	+	2	0	TATDN2	10266033	0.805000	0.28982	0.883000	0.34634	0.029000	0.11900	1.465000	0.35299	2.304000	0.77564	0.563000	0.77884	AGC	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339641.1		+	ENST00000287652.4	Missense_Mutation	SNP	3 : 10291033 - 10291033 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	831	156
KIAA2013	90231	broad.mit.edu	37	1	11980383	11980383	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11980383G>T	ENST00000376572.3	-	3	2079	c.1894C>A	c.(1894-1896)Ccc>Acc	p.P632T		NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	632						integral to membrane				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CAGACACTGGGATCTTCCTGT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													177	156	163			NA	NA	1		NA											NA				11980383		2203	4300	6503	SO:0001583	missense			AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685	90231	90231			28513	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_138346	NM_138346	NA	Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.1894C>A	1.37:g.11980383G>T	ENSP00000365756:p.Pro632Thr	NA	Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	37	CCDS141.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.879388	0.33162	.	.	ENSG00000116685	ENST00000376572	.	.	.	5.64	4.72	0.59763	.	.	.	.	.	T	0.35451	0.0932	N	0.08118	0	0.80722	D	1	P	0.40970	0.734	B	0.40329	0.326	T	0.32798	-0.9893	8	0.45353	T	0.12	.	14.0044	0.64453	0.0:0.1512:0.8488:0.0	.	632	Q8IYS2	K2013_HUMAN	T	632	.	ENSP00000365756:P632T	P	-	1	0	KIAA2013	11902970	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.176000	0.58269	1.363000	0.46019	0.655000	0.94253	CCC	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006858.1		-	ENST00000376572.3	Missense_Mutation	SNP	1 : 11980383 - 11980383 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	692	66
SLC12A6	9990	broad.mit.edu	37	15	34532995	34532995	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34532995T>C	ENST00000354181.3	-	19	2795	c.2303A>G	c.(2302-2304)gAc>gGc	p.D768G	SLC12A6_ENST00000290209.5_Missense_Mutation_p.D717G|SLC12A6_ENST00000560611.1_Missense_Mutation_p.D768G|SLC12A6_ENST00000558589.1_Missense_Mutation_p.D759G|SLC12A6_ENST00000397707.2_Missense_Mutation_p.D753G|SLC12A6_ENST00000451844.2_Missense_Mutation_p.D580G|SLC12A6_ENST00000558667.1_Missense_Mutation_p.D768G|SLC12A6_ENST00000560164.1_Missense_Mutation_p.D580G|SLC12A6_ENST00000458406.2_Missense_Mutation_p.D709G|SLC12A6_ENST00000397702.2_Missense_Mutation_p.D709G			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	768					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GACATGTAAGTCTTCATCTAG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	77	83			NA	NA	15		NA											NA				34532995		2201	4298	6499	SO:0001583	missense			AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199	9990	9990		Solute carriers	10914	protein-coding gene	gene with protein product		604878	agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)	KCC3, ACCPN	NA	10187864, 10347194	Standard	NM_005135	NM_133647	NA	Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.2303A>G	15.37:g.34532995T>C	ENSP00000346112:p.Asp768Gly	NA	Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	37	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	T	17.08	3.298737	0.60195	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.92639	0.7661	M	0.79475	2.455	0.58432	D	0.999999	B;P;P;P	0.42584	0.367;0.76;0.784;0.588	B;B;B;B	0.44224	0.059;0.416;0.444;0.206	D	0.93407	0.6765	10	0.66056	D	0.02	.	13.793	0.63152	0.0:0.0:0.0:1.0	.	753;768;717;580	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	G	717;753;759;709;709;580	ENSP00000290209:D717G;ENSP00000380819:D753G;ENSP00000380814:D709G;ENSP00000387725:D709G;ENSP00000390199:D580G	ENSP00000290209:D717G	D	-	2	0	SLC12A6	32320287	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.127000	0.71642	2.086000	0.62901	0.482000	0.46254	GAC	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417991.1		-	ENST00000354181.3	Missense_Mutation	SNP	15 : 34532995 - 34532995 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	180	37
PTPRU	10076	broad.mit.edu	37	1	29587277	29587277	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29587277G>A	ENST00000373779.3	+	7	1135	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T	PTPRU_ENST00000323874.8_Missense_Mutation_p.A336T|PTPRU_ENST00000428026.2_Missense_Mutation_p.A336T|PTPRU_ENST00000345512.3_Missense_Mutation_p.A336T|PTPRU_ENST00000460170.2_Missense_Mutation_p.A336T|PTPRU_ENST00000356870.3_Missense_Mutation_p.A336T	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	336	Fibronectin type-III 1.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGAGGTGCACGCCGTCAGCCT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	60	61			NA	NA	1		NA											NA				29587277		2203	4300	6503	SO:0001583	missense			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656	10076	10076		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing	9683	protein-coding gene	gene with protein product	pi R-PTP-Psi	602454			NA	8700514, 9434160	Standard		NM_133178	NA	Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000373779.3:c.1006G>A	1.37:g.29587277G>A	ENSP00000362884:p.Ala336Thr	NA	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	37	CCDS335.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.958342	0.73902	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39	5.22	4.25	0.50352	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.152411	0.42682	D	0.000668	T	0.58921	0.2156	L	0.56769	1.78	0.49051	D	0.999743	D;D;D;D;D	0.63046	0.99;0.99;0.99;0.992;0.992	P;P;P;P;P	0.52343	0.57;0.57;0.57;0.696;0.696	T	0.59878	-0.7371	9	.	.	.	.	14.3429	0.66641	0.0:0.1488:0.8512:0.0	.	336;336;336;336;336	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	T	336	ENSP00000334941:A336T;ENSP00000362884:A336T;ENSP00000349333:A336T;ENSP00000314987:A336T;ENSP00000392332:A336T;ENSP00000432906:A336T	.	A	+	1	0	PTPRU	29459864	1.000000	0.71417	0.990000	0.47175	0.380000	0.30137	7.926000	0.87569	2.418000	0.82041	0.462000	0.41574	GCC	PTPRU-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000010445.2		+	ENST00000373779.3	Missense_Mutation	SNP	1 : 29587277 - 29587277 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	408	27
G3BP1	10146	broad.mit.edu	37	5	151183461	151183461	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151183461G>T	ENST00000394123.3	+	12	1355	c.1210G>T	c.(1210-1212)Ggt>Tgt	p.G404C	G3BP1_ENST00000356245.3_Missense_Mutation_p.G404C|G3BP1_ENST00000543466.1_Missense_Mutation_p.G222C			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	404	RRM.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			CATGTTCAGAGGTGAGGTCCG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	67	67			NA	NA	5		NA											NA				151183461		2203	4300	6503	SO:0001583	missense			BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907	10146	10146		RNA binding motif (RRM) containing	30292	protein-coding gene	gene with protein product	Ras-GTPase-activating protein SH3-domain-binding protein	608431			NA	8649363, 9889278	Standard	NM_005754	NM_005754	NA	Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.1210G>T	5.37:g.151183461G>T	ENSP00000377681:p.Gly404Cys	NA		37	CCDS4319.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.223942	0.58668	.	.	ENSG00000145907	ENST00000394123;ENST00000543466;ENST00000356245;ENST00000274596	T;T;T	0.80304	-1.24;-1.36;-1.24	5.51	5.51	0.81932	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.046297	0.85682	D	0.000000	T	0.80884	0.4709	L	0.60455	1.87	0.80722	D	1	P	0.38420	0.63	B	0.38616	0.277	T	0.82744	-0.0306	10	0.87932	D	0	0.4932	19.7859	0.96437	0.0:0.0:1.0:0.0	.	404	Q13283	G3BP1_HUMAN	C	404;222;404;246	ENSP00000377681:G404C;ENSP00000445035:G222C;ENSP00000348578:G404C	ENSP00000274596:G246C	G	+	1	0	G3BP1	151163654	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.018000	0.93657	2.746000	0.94184	0.655000	0.94253	GGT	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252431.1		+	ENST00000394123.3	Missense_Mutation	SNP	5 : 151183461 - 151183461 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	490	34
ESPNL	339768	broad.mit.edu	37	2	239016582	239016582	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239016582C>T	ENST00000343063.3	+	4	1086	c.823C>T	c.(823-825)Ctc>Ttc	p.L275F	ESPNL_ENST00000409169.1_Missense_Mutation_p.L275F	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	275										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TGGGACCCCCCTCCACGACGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	34	35			NA	NA	2		NA											NA				239016582		2199	4300	6499	SO:0001583	missense			AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488	339768	339768		Ankyrin repeat domain containing	27937	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_194312	NM_194312	NA	Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.823C>T	2.37:g.239016582C>T	ENSP00000339115:p.Leu275Phe	NA	Q66K27|Q6ZVG1|Q8IVU2	37	CCDS2525.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388675	0.82902	.	.	ENSG00000144488	ENST00000343063;ENST00000409169	T;D	0.81996	-1.3;-1.56	5.51	5.51	0.81932	Ankyrin repeat-containing domain (4);	0.000000	0.49916	U	0.000140	D	0.90933	0.7150	M	0.77406	2.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.992;0.993	D	0.91720	0.5388	10	0.72032	D	0.01	-31.9858	16.3304	0.83010	0.0:1.0:0.0:0.0	.	275;275	Q6ZVH7-2;Q6ZVH7	.;ESPNL_HUMAN	F	275	ENSP00000339115:L275F;ENSP00000386577:L275F	ENSP00000339115:L275F	L	+	1	0	ESPNL	238681321	1.000000	0.71417	0.317000	0.25265	0.941000	0.58515	5.079000	0.64431	2.580000	0.87095	0.655000	0.94253	CTC	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257164.2		+	ENST00000343063.3	Missense_Mutation	SNP	2 : 239016582 - 239016582 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	202	48
KIF13A	63971	broad.mit.edu	37	6	17777518	17777518	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17777518T>A	ENST00000378814.5	-	33	4120	c.4121A>T	c.(4120-4122)aAt>aTt	p.N1374I	KIF13A_ENST00000259711.6_Missense_Mutation_p.N1387I|KIF13A_ENST00000378826.2_Missense_Mutation_p.N1387I|KIF13A_ENST00000378816.5_Missense_Mutation_p.N1387I|KIF13A_ENST00000378843.2_Missense_Mutation_p.N1374I	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1387					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			ATTATGAACATTTGGTGTACT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	75	73			NA	NA	6		NA											NA				17777518		1963	4157	6120	SO:0001583	missense			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177	63971	63971		Kinesins	14566	protein-coding gene	gene with protein product		605433			NA	11106728	Standard		NM_022113	NA	Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000378814.5:c.4121A>T	6.37:g.17777518T>A	ENSP00000368091:p.Asn1374Ile	NA	A0JP21|A0JP22|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	37	CCDS47380.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	36|36	5.859464|5.859464	0.97036|0.97036	.|.	.|.	ENSG00000137177|ENSG00000137177	ENST00000358380|ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	.|T;T;T;T;T;T	.|0.74315	.|-0.79;1.52;-0.83;-0.79;-0.79;-0.79	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84492|0.84492	0.5484|0.5484	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.996;1.0;0.998;1.0	.|D;D;D;D	.|0.91635	.|0.934;0.999;0.969;0.998	D|D	0.87022|0.87022	0.2129|0.2129	5|10	.|0.87932	.|D	.|0	.|.	16.0773|16.0773	0.80976|0.80976	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1374;1387;1387;1374	.|Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.|.;.;KI13A_HUMAN;.	L|I	781|1374;391;1387;1387;1374;1387	.|ENSP00000368091:N1374I;ENSP00000425616:N391I;ENSP00000259711:N1387I;ENSP00000368103:N1387I;ENSP00000368120:N1374I;ENSP00000368093:N1387I	.|ENSP00000259711:N1387I	M|N	-|-	1|2	0|0	KIF13A|KIF13A	17885497|17885497	1.000000|1.000000	0.71417|0.71417	0.157000|0.157000	0.22605|0.22605	0.992000|0.992000	0.81027|0.81027	7.655000|7.655000	0.83696|0.83696	2.254000|2.254000	0.74563|0.74563	0.482000|0.482000	0.46254|0.46254	ATG|AAT	KIF13A-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367778.1		-	ENST00000378814.5	Missense_Mutation	SNP	6 : 17777518 - 17777518 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	86	10
C16orf46	123775	broad.mit.edu	37	16	81097352	81097352	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81097352G>A	ENST00000378611.4	-	2	324	c.209C>T	c.(208-210)gCa>gTa	p.A70V	C16orf46_ENST00000299578.5_Splice_Site_p.A70V|C16orf46_ENST00000444657.3_Intron|RP11-303E16.8_ENST00000564536.1_RNA	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	70										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						GATACTCACTGCCTCTTCCCA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	135	138			NA	NA	16		NA											NA				81097352		2202	4300	6502	SO:0001630	splice_region_variant			BC064143	CCDS10932.1, CCDS42201.1	16q23.2	2012-10-09			ENSG00000166455	ENSG00000166455	123775	123775			26525	protein-coding gene	gene with protein product					NA		Standard	NM_152337	NM_152337	NA	Approved	FLJ32702	uc002fgc.4	Q6P387	OTTHUMG00000137629	ENST00000378611.4:c.210+1C>T	16.37:g.81097352G>A		NA	Q96MA7	37	CCDS42201.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724517	0.68959	.	.	ENSG00000166455	ENST00000378611;ENST00000299578	T;T	0.27890	1.64;1.64	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000005	T	0.47655	0.1457	L	0.36672	1.1	0.45403	D	0.998388	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.41034	-0.9531	10	0.87932	D	0	.	16.9976	0.86372	0.0:0.0:1.0:0.0	.	70;70	Q6P387-2;Q6P387	.;CP046_HUMAN	V	70	ENSP00000367874:A70V;ENSP00000299578:A70V	ENSP00000299578:A70V	A	-	2	0	C16orf46	79654853	1.000000	0.71417	0.999000	0.59377	0.234000	0.25298	5.178000	0.65037	2.822000	0.97130	0.563000	0.77884	GCA	C16orf46-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269055.1	Missense_Mutation	-	ENST00000378611.4	Splice_Site	SNP	16 : 81097352 - 81097352 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	477	117
CHRNA1	1134	broad.mit.edu	37	2	175614714	175614714	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:175614714C>T	ENST00000409219.1	-	7	979	c.962G>A	c.(961-963)cGc>cAc	p.R321H	CHRNA1_ENST00000261007.5_Missense_Mutation_p.R346H|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000348749.5_Missense_Mutation_p.R321H|CHRNA1_ENST00000409542.1_Missense_Mutation_p.R239H			P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	346					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.R346L(2)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						GCTGGGTGAGCGGTGGTGTGT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(2)											171	133	146			NA	NA	2		NA											NA				175614714		2203	4300	6503	SO:0001583	missense			Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435	1134	1134		Cholinergic receptors, Ligand-gated ion channels / Acetylcholine receptors, nicotinic	1955	protein-coding gene	gene with protein product	acetylcholine receptor, nicotinic, alpha 1 (muscle)	100690	cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)	CHRNA	NA		Standard		NM_001039523	NA	Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000409219.1:c.962G>A	2.37:g.175614714C>T	ENSP00000386611:p.Arg321His	NA	B4DRV6|D3DPE8	37		.	.	.	.	.	.	.	.	.	.	C	24.2	4.499947	0.85176	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542;ENST00000409219	D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42	5.4	5.4	0.78164	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.049415	0.85682	D	0.000000	D	0.94466	0.8219	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.94813	0.7980	10	0.87932	D	0	.	19.1684	0.93567	0.0:1.0:0.0:0.0	.	321;346	Q53SH4;P02708	.;ACHA_HUMAN	H	321;346;239;321	ENSP00000261008:R321H;ENSP00000261007:R346H;ENSP00000387026:R239H;ENSP00000386611:R321H	ENSP00000261007:R346H	R	-	2	0	CHRNA1	175322960	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.815000	0.86186	2.527000	0.85204	0.655000	0.94253	CGC	CHRNA1-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000334119.1		-	ENST00000409219.1	Missense_Mutation	SNP	2 : 175614714 - 175614714 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	399	55
TRAF4	9618	broad.mit.edu	37	17	27075073	27075073	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27075073C>T	ENST00000262395.5	+	4	468	c.339C>T	c.(337-339)tgC>tgT	p.C113C	TRAF4_ENST00000444415.3_Silent_p.C113C|TRAF4_ENST00000262396.6_Silent_p.C113C	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	113					apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			TCATTCCCTGCCCTAATCGCT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	90	90			NA	NA	17		NA											NA				27075073		2203	4300	6503	SO:0001819	synonymous_variant			X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604	9618	9618		RING-type (C3HC4) zinc fingers	12034	protein-coding gene	gene with protein product		602464			NA	7592751, 7490069	Standard	NM_145751	NM_004295	NA	Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.339C>T	17.37:g.27075073C>T		NA	O75615|Q14848|Q2KJU4|Q2PJN8	37	CCDS11243.1																																																																																			TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255944.2		+	ENST00000262395.5	Silent	SNP	17 : 27075073 - 27075073 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	418	87
SKIV2L2	23517	broad.mit.edu	37	5	54674996	54674996	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54674996G>T	ENST00000230640.5	+	18	2279	c.2025G>T	c.(2023-2025)gtG>gtT	p.V675V	SKIV2L2_ENST00000545714.1_Silent_p.V574V	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	675					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GAGTAGTGGTGAATTTCTCAA	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(2;92 134 23744 29976 33782)							NA				0													50	56	54			NA	NA	5		NA											NA				54674996		2203	4298	6501	SO:0001819	synonymous_variant			D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123	23517	23517			18734	protein-coding gene	gene with protein product	functional spliceosome-associated protein 118		KIAA0052	KIAA0052	NA		Standard		NM_015360	NA	Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.2025G>T	5.37:g.54674996G>T		NA	Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	37	CCDS3967.1																																																																																			SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214108.1		+	ENST00000230640.5	Silent	SNP	5 : 54674996 - 54674996 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	251	48
OR2K2	26248	broad.mit.edu	37	9	114090685	114090685	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114090685C>T	ENST00000302681.1	-	1	28	c.29G>A	c.(28-30)aGc>aAc	p.S10N	OR2K2_ENST00000374428.1_Missense_Mutation_p.S39N	NM_205859.1	NP_995581.1	Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GAAAAAAATGCTCCAAATGGT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	50	49			NA	NA	9		NA											NA				114090685		2203	4299	6502	SO:0001583	missense			X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133	26248	26248		GPCR / Class A : Olfactory receptors	8264	protein-coding gene	gene with protein product				OR2AR1P	NA	1370859, 17010214	Standard	NM_205859	NM_205859	NA	Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000302681.1:c.29G>A	9.37:g.114090685C>T	ENSP00000305055:p.Ser10Asn	NA	Q2TA61|Q5VYK4|Q6IFI5	37	CCDS6778.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.194496	0.58017	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.00575	6.46;6.46	4.47	0.0536	0.14307	.	0.334685	0.21273	U	0.077285	T	0.00496	0.0016	L	0.39326	1.205	0.09310	N	1	P	0.40000	0.698	B	0.36134	0.218	T	0.53114	-0.8484	10	0.23302	T	0.38	.	6.853	0.24024	0.0:0.5422:0.2849:0.1729	.	39	Q8NGT1	OR2K2_HUMAN	N	10;39	ENSP00000305055:S10N;ENSP00000363550:S39N	ENSP00000305055:S10N	S	-	2	0	OR2K2	113130506	0.009000	0.17119	0.027000	0.17364	0.973000	0.67179	-0.574000	0.05868	0.200000	0.20447	0.655000	0.94253	AGC	OR2K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053636.1		-	ENST00000302681.1	Missense_Mutation	SNP	9 : 114090685 - 114090685 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	310	71
GPRIN3	285513	broad.mit.edu	37	4	90169956	90169956	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90169956C>T	ENST00000609438.1	-	2	1824	c.1306G>A	c.(1306-1308)Gaa>Aaa	p.E436K	GPRIN3_ENST00000333209.4_Missense_Mutation_p.E436K	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	NA										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CTCCCATCTTCTTTACACGTA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	95	95			NA	NA	4		NA											NA				90169956		2203	4300	6503	SO:0001583	missense			AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477	285513	285513			27733	protein-coding gene	gene with protein product		611241			NA	15488195	Standard	NM_198281	NM_198281	NA	Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.1306G>A	4.37:g.90169956C>T	ENSP00000476603:p.Glu436Lys	NA	Q8IVE4	37	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613589	0.28712	.	.	ENSG00000185477	ENST00000333209	T	0.10860	2.83	4.82	2.05	0.26809	.	0.481105	0.15476	N	0.260322	T	0.07818	0.0196	L	0.32530	0.975	0.09310	N	1	B	0.19583	0.037	B	0.19946	0.027	T	0.41770	-0.9490	10	0.17369	T	0.5	-8.3944	8.4706	0.32982	0.0:0.6282:0.2928:0.0789	.	436	Q6ZVF9	GRIN3_HUMAN	K	436	ENSP00000328672:E436K	ENSP00000328672:E436K	E	-	1	0	GPRIN3	90388979	0.000000	0.05858	0.003000	0.11579	0.212000	0.24457	0.180000	0.16860	0.211000	0.20683	0.563000	0.77884	GAA	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363540.2		-	ENST00000609438.1	Missense_Mutation	SNP	4 : 90169956 - 90169956 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	570	100
OSBP2	23762	broad.mit.edu	37	22	31091406	31091406	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31091406C>T	ENST00000332585.6	+	1	614	c.510C>T	c.(508-510)ggC>ggT	p.G170G	OSBP2_ENST00000407373.1_Intron|OSBP2_ENST00000382310.3_Silent_p.G170G|OSBP2_ENST00000403222.3_Intron|OSBP2_ENST00000446658.2_Silent_p.G170G	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	170					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CGGGGACTGGCACGACCTCCA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	50	48			NA	NA	22		NA											NA				31091406		2037	4182	6219	SO:0001819	synonymous_variant				CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792	23762	23762		Oxysterol binding proteins, Pleckstrin homology (PH) domain containing	8504	protein-coding gene	gene with protein product		606729		OSBPL1	NA	10591208, 11278871, 11802775	Standard	NM_030758	NM_001282738	NA	Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.510C>T	22.37:g.31091406C>T		NA	B0QYG1|O60396|Q9BY96|Q9BZF0	37	CCDS43002.1																																																																																			OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321547.2		+	ENST00000332585.6	Silent	SNP	22 : 31091406 - 31091406 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	401	68
PMF1	11243	broad.mit.edu	37	1	156203496	156203496	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156203496C>T	ENST00000368273.4	+	3	361	c.351C>T	c.(349-351)ggC>ggT	p.G117G	PMF1-BGLAP_ENST00000368276.4_Silent_p.G115G|PMF1_ENST00000368279.3_Silent_p.G115G|PMF1-BGLAP_ENST00000490491.1_Silent_p.G115G|PMF1_ENST00000565805.1_Silent_p.G115G|PMF1-BGLAP_ENST00000320139.5_Silent_p.G115G|PMF1_ENST00000368277.3_Silent_p.G115G|PMF1_ENST00000567140.1_Silent_p.G115G	NM_001199654.1	NP_001186583.1			polyamine-modulated factor 1	NA										kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					TGGAAGAAGGCAAAGTCCGCA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(32;764 914 7316 34504 37150)|Ovarian(64;846 1195 21996 34382 40415)							NA				0													105	113	110			NA	NA	1		NA											NA				156203496		2203	4300	6503	SO:0001819	synonymous_variant			AF141310	CCDS30886.1, CCDS55648.1, CCDS55649.1	1q22	2013-07-03			ENSG00000160783	ENSG00000160783	11243	11243			9112	protein-coding gene	gene with protein product		609176			NA	10419538	Standard	NM_007221	NM_007221	NA	Approved			Q6P1K2	OTTHUMG00000177123	ENST00000368273.4:c.351C>T	1.37:g.156203496C>T		NA		37	CCDS55648.1																																																																																			PMF1-005	KNOWN	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040864.2		+	ENST00000368273.4	Silent	SNP	1 : 156203496 - 156203496 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	760	205
TCFL5	10732	broad.mit.edu	37	20	61488887	61488887	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61488887G>A	ENST00000335351.3	-	4	1190	c.1098C>T	c.(1096-1098)ggC>ggT	p.G366G	TCFL5_ENST00000217162.5_Silent_p.G318G	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	366					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity	p.G366G(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					TGGCACCTTCGCCCACATTCT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											114	106	108			NA	NA	20		NA											NA				61488887		2203	4300	6503	SO:0001819	synonymous_variant			AB012124	CCDS13506.1	20q13.33	2013-09-19			ENSG00000101190	ENSG00000101190	10732	10732		Basic helix-loop-helix proteins	11646	protein-coding gene	gene with protein product	HPV-16 E2 binding protein 1	604745			NA	9763657	Standard	NM_006602	XM_005260185	NA	Approved	Figlb, E2BP-1, CHA, bHLHe82	uc002ydp.3	Q9UL49	OTTHUMG00000032939	ENST00000335351.3:c.1098C>T	20.37:g.61488887G>A		NA	O94771|Q9BYW0	37	CCDS13506.1																																																																																			TCFL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080079.2		-	ENST00000335351.3	Silent	SNP	20 : 61488887 - 61488887 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	679	126
MDGA1	266727	broad.mit.edu	37	6	37619936	37619936	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:37619936C>T	ENST00000434837.3	-	7	2341	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H	MDGA1_ENST00000505425.1_Missense_Mutation_p.R388H|MDGA1_ENST00000297153.7_Missense_Mutation_p.R388H	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	NA	Ig-like 4.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						AGGATCATTGCGGGTCACCAG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	64	63			NA	NA	6		NA											NA				37619936		2039	4162	6201	SO:0001583	missense			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139	266727	266727		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	19267	protein-coding gene	gene with protein product		609626			NA	15922729, 15019943	Standard		NM_153487	NA	Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.1163G>A	6.37:g.37619936C>T	ENSP00000402584:p.Arg388His	NA	A6NHG0|Q8NBE3	37	CCDS47417.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238185	0.79800	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425	T;T;T	0.67345	-0.26;-0.26;-0.26	5.36	5.36	0.76844	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.43919	D	0.000519	T	0.73385	0.3580	L	0.50993	1.605	0.47584	D	0.999464	D	0.89917	1.0	D	0.85130	0.997	T	0.71728	-0.4505	10	0.40728	T	0.16	.	18.0867	0.89460	0.0:1.0:0.0:0.0	.	388	Q8NFP4	MDGA1_HUMAN	H	388	ENSP00000402584:R388H;ENSP00000297153:R388H;ENSP00000422042:R388H	ENSP00000297153:R388H	R	-	2	0	MDGA1	37727914	0.999000	0.42202	0.999000	0.59377	0.985000	0.73830	2.214000	0.42853	2.524000	0.85096	0.655000	0.94253	CGC	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040419.3		-	ENST00000434837.3	Missense_Mutation	SNP	6 : 37619936 - 37619936 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	437	70
KLHL22	84861	broad.mit.edu	37	22	20819860	20819860	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20819860G>A	ENST00000328879.4	-	4	553	c.397C>T	c.(397-399)Cca>Tca	p.P133S	KLHL22_ENST00000440659.2_5'UTR	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	133					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			ATAATTTCTGGGATCTGCAGA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	49	48			NA	NA	22		NA											NA				20819860		2203	4298	6501	SO:0001583	missense				CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910	84861	84861		Kelch-like, BTB/POZ domain containing	25888	protein-coding gene	gene with protein product			kelch-like 22 (Drosophila)		NA	12477932	Standard	NM_032775	NM_032775	NA	Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.397C>T	22.37:g.20819860G>A	ENSP00000331682:p.Pro133Ser	NA	A8K3Q4|A8MTV3|D3DX30|Q96B68|Q96KC6	37	CCDS13780.1	.	.	.	.	.	.	.	.	.	.	G	5.913	0.352446	0.11182	.	.	ENSG00000099910	ENST00000328879;ENST00000451553;ENST00000444967;ENST00000458248;ENST00000443285	T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39	5.43	5.43	0.79202	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.228496	0.47093	D	0.000260	T	0.43700	0.1259	N	0.13352	0.335	0.80722	D	1	B	0.14012	0.009	B	0.15052	0.012	T	0.37150	-0.9718	10	0.06494	T	0.89	.	10.2156	0.43166	0.0903:0.0:0.9097:0.0	.	133	Q53GT1	KLH22_HUMAN	S	133;56;165;133;167	ENSP00000331682:P133S;ENSP00000400095:P56S;ENSP00000403999:P165S;ENSP00000398616:P133S;ENSP00000397882:P167S	ENSP00000331682:P133S	P	-	1	0	KLHL22	19149860	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	4.144000	0.58057	2.555000	0.86185	0.655000	0.94253	CCA	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320045.2		-	ENST00000328879.4	Missense_Mutation	SNP	22 : 20819860 - 20819860 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	252	58
GNB1	2782	broad.mit.edu	37	1	1718817	1718817	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1718817C>T	ENST00000378609.4	-	11	1307	c.976G>A	c.(976-978)Gct>Act	p.A326T		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	326					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GTCGCCACAGCCATGCCATCG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	101	106			NA	NA	1		NA											NA				1718817		2203	4300	6503	SO:0001583	missense			BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369	2782	2782		WD repeat domain containing	4396	protein-coding gene	gene with protein product		139380			NA		Standard	NM_002074	NM_002074	NA	Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.976G>A	1.37:g.1718817C>T	ENSP00000367872:p.Ala326Thr	NA	B1AJZ7|P04697|P04901	37	CCDS34.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.051123|6.051123	0.97236|0.97236	.|.	.|.	ENSG00000078369|ENSG00000078369	ENST00000378609;ENST00000455156;ENST00000378606|ENST00000424622	T|.	0.59224|.	0.28|.	5.74|5.74	5.74|5.74	0.90152|0.90152	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.100656|.	0.64402|.	D|.	0.000003|.	T|.	0.57169|.	0.2035|.	N|N	0.25789|0.25789	0.76|0.76	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.76071|.	0.987|.	T|.	0.50056|.	-0.8872|.	10|.	0.31617|.	T|.	0.26|.	-16.5478|-16.5478	18.9108|18.9108	0.92483|0.92483	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	326|.	P62873|.	GBB1_HUMAN|.	T|X	326;226;326|183	ENSP00000367872:A326T|.	ENSP00000367869:A326T|.	A|W	-|-	1|3	0|0	GNB1|GNB1	1708677|1708677	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.600000|7.600000	0.82769|0.82769	2.720000|2.720000	0.93068|0.93068	0.561000|0.561000	0.74099|0.74099	GCT|TGG	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000002762.3		-	ENST00000378609.4	Missense_Mutation	SNP	1 : 1718817 - 1718817 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	477	42
CHRNA2	1135	broad.mit.edu	37	8	27327295	27327295	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27327295C>T	ENST00000520933.2	-	2	430	c.277G>A	c.(277-279)Gct>Act	p.A93T	CHRNA2_ENST00000407991.1_Missense_Mutation_p.A93T|CHRNA2_ENST00000240132.2_Intron			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	93						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	ATGAGCTGAGCGATGGACAGT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	114	121			NA	NA	8		NA											NA				27327295		2203	4300	6503	SO:0001583	missense			U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903	NA	1135		Cholinergic receptors, Ligand-gated ion channels / Acetylcholine receptors, nicotinic	1956	protein-coding gene	gene with protein product	acetylcholine receptor, nicotinic, alpha 2 (neuronal)	118502	cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)		NA	1505988	Standard		NM_000742	NA	Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.277G>A	8.37:g.27327295C>T	ENSP00000429616:p.Ala93Thr	NA	A8KAX3|Q9HAQ3	37	CCDS6059.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283043	0.80803	.	.	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000524096	T;T;T	0.78481	-1.18;-1.18;-1.18	4.77	4.77	0.60923	Neurotransmitter-gated ion-channel ligand-binding (3);	0.101921	0.64402	D	0.000002	T	0.65585	0.2705	N	0.17723	0.515	0.58432	D	0.999999	P	0.47034	0.889	B	0.40782	0.34	T	0.68606	-0.5364	10	0.39692	T	0.17	.	15.6641	0.77213	0.0:1.0:0.0:0.0	.	93	Q15822	ACHA2_HUMAN	T	93	ENSP00000385026:A93T;ENSP00000429616:A93T;ENSP00000430422:A93T	ENSP00000385026:A93T	A	-	1	0	CHRNA2	27383212	0.992000	0.36948	0.914000	0.36105	0.807000	0.45602	3.017000	0.49615	2.653000	0.90120	0.561000	0.74099	GCT	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376125.4		-	ENST00000520933.2	Missense_Mutation	SNP	8 : 27327295 - 27327295 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	823	135
KIDINS220	57498	broad.mit.edu	37	2	8957806	8957806	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8957806T>C	ENST00000256707.3	-	4	429	c.248A>G	c.(247-249)cAt>cGt	p.H83R	KIDINS220_ENST00000473731.1_Missense_Mutation_p.H83R|KIDINS220_ENST00000319688.5_Missense_Mutation_p.H83R|KIDINS220_ENST00000418530.1_Missense_Mutation_p.H41R|KIDINS220_ENST00000427284.1_Missense_Mutation_p.H83R	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	83					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GATGTGCACATGCCCTTCTTT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													191	178	182			NA	NA	2		NA											NA				8957806		1903	4096	5999	SO:0001583	missense			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313	57498	57498		Ankyrin repeat domain containing	29508	protein-coding gene	gene with protein product	ankyrin repeat-rich membrane-spanning protein	615759			NA	10998417, 10574462	Standard	NM_020738	NM_020738	NA	Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.248A>G	2.37:g.8957806T>C	ENSP00000256707:p.His83Arg	NA	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	37	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	T	18.26	3.584883	0.65992	.	.	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T	0.65732	-0.12;-0.12;-0.17;-0.12;-0.12;-0.12	5.77	5.77	0.91146	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.69251	0.3090	N	0.26162	0.8	0.80722	D	1	D;D;D	0.89917	0.968;0.999;1.0	D;D;D	0.91635	0.969;0.999;0.999	T	0.73094	-0.4091	10	0.72032	D	0.01	.	15.0783	0.72093	0.0:0.0:0.0:1.0	.	83;41;83	B4DK94;Q9ULH0-2;Q9ULH0	.;.;KDIS_HUMAN	R	83;83;41;83;83;83	ENSP00000256707:H83R;ENSP00000411849:H83R;ENSP00000414923:H41R;ENSP00000418974:H83R;ENSP00000419964:H83R;ENSP00000319947:H83R	ENSP00000256707:H83R	H	-	2	0	KIDINS220	8875257	1.000000	0.71417	0.915000	0.36163	0.446000	0.32137	6.861000	0.75478	2.199000	0.70637	0.533000	0.62120	CAT	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323408.2		-	ENST00000256707.3	Missense_Mutation	SNP	2 : 8957806 - 8957806 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	799	191
KIF21B	23046	broad.mit.edu	37	1	200978481	200978481	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200978481C>A	ENST00000332129.2	-	2	493	c.177G>T	c.(175-177)tgG>tgT	p.W59C	KIF21B_ENST00000461742.2_Missense_Mutation_p.W59C|KIF21B_ENST00000422435.2_Missense_Mutation_p.W59C|KIF21B_ENST00000360529.5_Missense_Mutation_p.W59C	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	59	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TCTGTTCTTGCCAGGTGTCCA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	125	128			NA	NA	1		NA											NA				200978481		2203	4300	6503	SO:0001583	missense			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852	23046	23046		Kinesins, WD repeat domain containing	29442	protein-coding gene	gene with protein product		608322			NA	9455484	Standard	XM_371332	NM_001252100	NA	Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000332129.2:c.177G>T	1.37:g.200978481C>A	ENSP00000328494:p.Trp59Cys	NA	Q5T4J3	37	CCDS30965.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.955987	0.34471	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	4.53	4.53	0.55603	Kinesin, motor domain (4);	0.302314	0.33534	N	0.004803	T	0.59155	0.2173	N	0.01576	-0.805	0.80722	D	1	D;D;D;D	0.63880	0.993;0.993;0.983;0.992	P;P;P;P	0.60173	0.87;0.87;0.749;0.794	T	0.71656	-0.4527	10	0.56958	D	0.05	.	13.2344	0.59961	0.0:0.8405:0.1595:0.0	.	59;59;59;59	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	C	59	ENSP00000328494:W59C;ENSP00000353724:W59C;ENSP00000433808:W59C;ENSP00000411831:W59C	ENSP00000328494:W59C	W	-	3	0	KIF21B	199245104	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.063000	0.49978	2.341000	0.79615	0.650000	0.86243	TGG	KIF21B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087055.2		-	ENST00000332129.2	Missense_Mutation	SNP	1 : 200978481 - 200978481 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	83
CNBP	7555	broad.mit.edu	37	3	128889940	128889940	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128889940G>A	ENST00000422453.2	-	4	558	c.398C>T	c.(397-399)aCc>aTc	p.T133I	CNBP_ENST00000446936.2_Missense_Mutation_p.T128I|CNBP_ENST00000441626.2_Missense_Mutation_p.T135I|CNBP_ENST00000504813.1_Missense_Mutation_p.T123I|CNBP_ENST00000502976.1_Missense_Mutation_p.T126I|CNBP_ENST00000451728.2_Missense_Mutation_p.T134I|CNBP_ENST00000500450.2_Missense_Mutation_p.T116I	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	133					cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						CTTCACTTTGGTGCAGTCTTT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	89	93			NA	NA	3		NA											NA				128889940		2203	4300	6503	SO:0001583	missense			U19765	CCDS3056.1, CCDS46906.1, CCDS46907.1, CCDS46908.1, CCDS54637.1	3q21	2013-01-09	2006-06-29	2006-06-29			7555	7555		RING-type (C3HC4) zinc fingers, Zinc fingers, CCHC domain containing	13164	protein-coding gene	gene with protein product		116955	zinc finger protein 9 (a cellular retroviral nucleic acid binding protein), zinc finger protein 9	DM2, ZNF9	NA	2249857, 11486088	Standard	NM_003418	NM_003418	NA	Approved	RNF163, ZCCHC22, CNBP1	uc021xdw.1	P62633		ENST00000422453.2:c.398C>T	3.37:g.128889940G>A	ENSP00000410619:p.Thr133Ile	NA	B2RAV9|D3DNB9|D3DNC0|D3DNC1|P20694|Q5QJR0|Q6PJI7|Q96NV3	37	CCDS3056.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792571	0.50102	.	.	ENSG00000169714	ENST00000502976;ENST00000422453;ENST00000451728;ENST00000446936;ENST00000500450;ENST00000504813;ENST00000441626	.	.	.	5.74	5.74	0.90152	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (3);	0.152074	0.64402	D	0.000015	T	0.74275	0.3695	M	0.72576	2.205	0.51233	D	0.999914	P;D;P	0.54964	0.955;0.969;0.908	P;P;P	0.55785	0.784;0.675;0.776	T	0.74777	-0.3550	9	0.49607	T	0.09	-4.9209	17.4245	0.87522	0.0:0.0:1.0:0.0	.	116;126;133	B4DP17;P62633-2;P62633	.;.;CNBP_HUMAN	I	126;133;134;128;116;123;135	.	ENSP00000410619:T133I	T	-	2	0	CNBP	130372630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.013000	0.76373	2.732000	0.93576	0.591000	0.81541	ACC	CNBP-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358419.1		-	ENST00000422453.2	Missense_Mutation	SNP	3 : 128889940 - 128889940 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	406	63
DBF4B	80174	broad.mit.edu	37	17	42828513	42828513	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42828513C>A	ENST00000315005.3	+	14	1878	c.1740C>A	c.(1738-1740)tcC>tcA	p.S580S	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	580					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CCTTCCCCTCCTATCTCAATG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	97	102			NA	NA	17		NA											NA				42828513		2203	4300	6503	SO:0001819	synonymous_variant			AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692	80174	80174		Zinc fingers, DBF-type	17883	protein-coding gene	gene with protein product	chiffon homolog B (Drosophila), zinc finger, DBF-type containing 1B	611661	DBF4 homolog B (S. cerevisiae)		NA	15668232	Standard	NM_025104	NM_145663	NA	Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.1740C>A	17.37:g.42828513C>A		NA	D3DX56|Q8TEX0|Q96B19|Q9H912	37	CCDS11485.1																																																																																			DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385930.1		+	ENST00000315005.3	Silent	SNP	17 : 42828513 - 42828513 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	764	132
MYO15A	51168	broad.mit.edu	37	17	18025224	18025224	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18025224A>G	ENST00000205890.5	+	2	3448	c.3110A>G	c.(3109-3111)gAt>gGt	p.D1037G		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1037	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCTCCCAAGGATGTCACTCCC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	79	77			NA	NA	17		NA											NA				18025224		1963	4151	6114	SO:0001583	missense			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536	51168	51168		Myosins / Myosin superfamily : Class XV	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15	NA	9603736	Standard	NM_016239	NM_016239	NA	Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.3110A>G	17.37:g.18025224A>G	ENSP00000205890:p.Asp1037Gly	NA		37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	A	5.810	0.333662	0.11013	.	.	ENSG00000091536	ENST00000205890	D	0.87334	-2.24	0.717	-1.43	0.08884	.	.	.	.	.	T	0.66336	0.2779	N	0.08118	0	0.09310	N	1	B	0.28850	0.225	B	0.15870	0.014	T	0.55418	-0.8144	9	0.32370	T	0.25	.	2.8426	0.05534	0.5027:0.4973:0.0:0.0	.	1037	Q9UKN7	MYO15_HUMAN	G	1037	ENSP00000205890:D1037G	ENSP00000205890:D1037G	D	+	2	0	MYO15A	17965949	0.008000	0.16893	0.066000	0.19879	0.076000	0.17211	0.332000	0.19751	0.077000	0.16863	0.076000	0.15429	GAT	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132048.1		+	ENST00000205890.5	Missense_Mutation	SNP	17 : 18025224 - 18025224 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	754	170
ASH1L	55870	broad.mit.edu	37	1	155348095	155348095	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155348095G>A	ENST00000368346.3	-	10	6963	c.6324C>T	c.(6322-6324)ggC>ggT	p.G2108G	ASH1L_ENST00000392403.3_Silent_p.G2103G			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2108	AWS.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CATCAACACAGCCCTTCCTGG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													219	212	214			NA	NA	1		NA											NA				155348095		2203	4300	6503	SO:0001819	synonymous_variant			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539	55870	55870		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	19088	protein-coding gene	gene with protein product		607999			NA	10860993, 16545939	Standard	NM_018489	NM_018489	NA	Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.6324C>T	1.37:g.155348095G>A		NA	Q59GP1|Q5T714|Q5T715|Q9P2C7	37																																																																																				ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000039400.1		-	ENST00000368346.3	Silent	SNP	1 : 155348095 - 155348095 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	918	281
MYO3A	53904	broad.mit.edu	37	10	26305807	26305807	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26305807G>A	ENST00000265944.5	+	7	733	c.567G>A	c.(565-567)ccG>ccA	p.P189P	MYO3A_ENST00000543632.1_Silent_p.P189P|MYO3A_ENST00000376302.1_Silent_p.P189P|MYO3A_ENST00000376301.1_Silent_p.P189P	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	189	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TAGGAACACCGTTTTGGATGG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	106	109			NA	NA	10		NA											NA				26305807		2203	4300	6503	SO:0001819	synonymous_variant			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777	53904	53904		Myosins / Myosin superfamily : Class III	7601	protein-coding gene	gene with protein product		606808	deafness, autosomal recessive 30	DFNB30	NA	10936054	Standard	NM_017433	NM_017433	NA	Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.567G>A	10.37:g.26305807G>A		NA	Q5VZ28|Q8WX17|Q9NYS8	37	CCDS7148.1																																																																																			MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047259.1		+	ENST00000265944.5	Silent	SNP	10 : 26305807 - 26305807 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	417	62
MON2	23041	broad.mit.edu	37	12	62861091	62861091	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:62861091T>G	ENST00000552738.1	+	1	464	c.104T>G	c.(103-105)gTc>gGc	p.V35G	MON2_ENST00000393629.2_Missense_Mutation_p.V35G|MON2_ENST00000552115.1_Missense_Mutation_p.V35G|MON2_ENST00000546600.1_Missense_Mutation_p.V35G|MON2_ENST00000393630.3_Missense_Mutation_p.V35G|MON2_ENST00000549378.1_3'UTR|MON2_ENST00000280379.6_Missense_Mutation_p.V35G|MON2_ENST00000393632.2_Missense_Mutation_p.V35G			Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	35					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTCCCACCTGTCAAAGAGGTA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	65	65			NA	NA	12		NA											NA				62861091		2203	4300	6503	SO:0001583	missense				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987	23041	23041			29177	protein-coding gene	gene with protein product			MON2 homolog (yeast)		NA	16301316, 24285343	Standard	NM_015026	NM_015026	NA	Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000552738.1:c.104T>G	12.37:g.62861091T>G	ENSP00000449215:p.Val35Gly	NA	A5D8U7|A7E2Y0|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	37		.	.	.	.	.	.	.	.	.	.	T	31	5.103451	0.94245	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.66815	-0.23;-0.22;-0.23;-0.23;-0.22;-0.23;-0.2	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.80864	0.4705	M	0.74647	2.275	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.76575	0.961;0.983;0.983;0.988	T	0.81688	-0.0819	9	.	.	.	-9.4158	14.8857	0.70567	0.0:0.0:0.0:1.0	.	35;35;35;35	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4	.;.;.;.	G	35	ENSP00000377252:V35G;ENSP00000377250:V35G;ENSP00000280379:V35G;ENSP00000447407:V35G;ENSP00000449215:V35G;ENSP00000377249:V35G;ENSP00000446635:V35G	.	V	+	2	0	MON2	61147358	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.157000	0.77461	2.206000	0.71126	0.528000	0.53228	GTC	MON2-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000406847.2		+	ENST00000552738.1	Missense_Mutation	SNP	12 : 62861091 - 62861091 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	421	84
HECW2	57520	broad.mit.edu	37	2	197184558	197184558	+	Silent	SNP	G	G	A	rs61752163		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197184558G>A	ENST00000409111.1	-	0	1002				HECW2_ENST00000260983.3_Silent_p.S352S			Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	NA					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CCTCGTCATCGGAAGGGCTAC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	69	72			NA	NA	2		NA											NA				197184558		2203	4300	6503	SO:0001623	5_prime_UTR_variant			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411	57520	57520			29853	protein-coding gene	gene with protein product					NA	10718198, 12890487	Standard	NM_020760	NM_020760	NA	Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000409111.1:c.-13C>T	2.37:g.197184558G>A		NA	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	37																																																																																				HECW2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000335314.2		-	ENST00000409111.1	5'UTR	SNP	2 : 197184558 - 197184558 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	286	55
RANBP2	5903	broad.mit.edu	37	2	109352168	109352168	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109352168G>T	ENST00000283195.6	+	5	712	c.586G>T	c.(586-588)Gct>Tct	p.A196S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	196					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GAGGAACATAGCTTTGCGTTC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													225	257	245			NA	NA	2		NA											NA				109352168		1355	2296	3651	SO:0001583	missense			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201	5903	5903		Tetratricopeptide (TTC) repeat domain containing	9848	protein-coding gene	gene with protein product		601181	acute necrotizing encephalopathy 1 (autosomal dominant)	ANE1	NA	7724562, 19118815	Standard	NM_006267	NM_006267	NA	Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.586G>T	2.37:g.109352168G>T	ENSP00000283195:p.Ala196Ser	NA	Q13074|Q15280|Q53TE2|Q59FH7	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974458	0.53720	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.29142	1.58	5.0	5.0	0.66597	.	.	.	.	.	T	0.30262	0.0759	M	0.61703	1.905	0.23661	N	0.997177	B	0.21381	0.055	B	0.18561	0.022	T	0.12656	-1.0539	9	0.21014	T	0.42	-13.8792	10.8541	0.46789	0.0:0.1481:0.7165:0.1353	.	196	P49792	RBP2_HUMAN	S	196	ENSP00000283195:A196S	ENSP00000283195:A196S	A	+	1	0	RANBP2	108718600	0.001000	0.12720	0.925000	0.36789	0.967000	0.64934	0.027000	0.13621	2.498000	0.84270	0.455000	0.32223	GCT	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253594.1		+	ENST00000283195.6	Missense_Mutation	SNP	2 : 109352168 - 109352168 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1350	491
LIPE	3991	broad.mit.edu	37	19	42910490	42910490	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42910490G>T	ENST00000244289.4	-	7	2464	c.2188C>A	c.(2188-2190)Ctc>Atc	p.L730I	LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	730					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GTGAAGCAGAGGTTCCCGCCT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	54	55			NA	NA	19		NA											NA				42910490		2203	4300	6503	SO:0001583	missense			L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3991	3991	3.1.1.3		6621	protein-coding gene	gene with protein product		151750			NA	8506334	Standard	NM_005357	NM_005357	NA	Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.2188C>A	19.37:g.42910490G>T	ENSP00000244289:p.Leu730Ile	NA	Q3LRT2|Q6NSL7	37	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268992	0.80469	.	.	ENSG00000079435	ENST00000244289	T	0.19938	2.11	4.74	4.74	0.60224	Alpha/beta hydrolase fold-3 (1);	0.208552	0.30959	N	0.008530	T	0.39627	0.1085	M	0.88775	2.98	0.46901	D	0.999244	B	0.24920	0.114	B	0.34590	0.186	T	0.47209	-0.9135	10	0.62326	D	0.03	-21.1728	16.925	0.86174	0.0:0.0:1.0:0.0	.	730	Q05469	LIPS_HUMAN	I	730	ENSP00000244289:L730I	ENSP00000244289:L730I	L	-	1	0	LIPE	47602330	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.180000	0.58296	2.367000	0.80283	0.579000	0.79373	CTC	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463861.1		-	ENST00000244289.4	Missense_Mutation	SNP	19 : 42910490 - 42910490 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	52
GSE1	23199	broad.mit.edu	37	16	85701835	85701835	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85701835G>A	ENST00000253458.7	+	14	3396	c.3220G>A	c.(3220-3222)Gcc>Acc	p.A1074T	GSE1_ENST00000393243.1_Missense_Mutation_p.A1001T|GSE1_ENST00000405402.2_Missense_Mutation_p.A970T	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein	NA											NA						CTCCAGCCGCGCCCCTCCACC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	90	88			NA	NA	16		NA											NA				85701835		2198	4300	6498	SO:0001583	missense			D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149	23199	23199			28979	protein-coding gene	gene with protein product	genetic suppressor element 1		KIAA0182, Gse1 coiled-coil protein homolog (mouse)	KIAA0182	NA	8724849, 8786132	Standard	NM_014615	NM_014615	NA	Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.3220G>A	16.37:g.85701835G>A	ENSP00000253458:p.Ala1074Thr	NA		37	CCDS10952.1	.	.	.	.	.	.	.	.	.	.	G	8.753	0.921705	0.17982	.	.	ENSG00000131149	ENST00000405402;ENST00000253458;ENST00000393243	T;T;T	0.31247	1.5;1.5;1.5	5.53	1.14	0.20703	.	0.499109	0.20844	N	0.084654	T	0.17152	0.0412	N	0.08118	0	0.09310	N	1	P;P;D;P	0.54047	0.711;0.903;0.964;0.939	B;B;B;B	0.36922	0.112;0.228;0.228;0.236	T	0.18650	-1.0330	10	0.34782	T	0.22	-6.7814	22.498	0.99972	0.0:0.7778:0.2222:0.0	.	837;970;1001;1074	Q59GZ0;Q14687-2;Q14687-3;Q14687	.;.;.;GSE1_HUMAN	T	970;1074;1001	ENSP00000384839:A970T;ENSP00000253458:A1074T;ENSP00000376934:A1001T	ENSP00000253458:A1074T	A	+	1	0	KIAA0182	84259336	0.000000	0.05858	0.000000	0.03702	0.224000	0.24922	0.412000	0.21131	0.006000	0.14734	0.561000	0.74099	GCC	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325527.1		+	ENST00000253458.7	Missense_Mutation	SNP	16 : 85701835 - 85701835 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	871	129
ZNF444	55311	broad.mit.edu	37	19	56658505	56658505	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56658505C>T	ENST00000337080.3	+	3	592	c.225C>T	c.(223-225)gaC>gaT	p.D75D	ZNF444_ENST00000592949.1_Silent_p.D75D	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN	zinc finger protein 444	75	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|lung(5)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0531)		TGCCCGCCGACACGCAGGCCT	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													8	9	9			NA	NA	19		NA											NA				56658505		2157	4220	6377	SO:0001819	synonymous_variant			AB052954	CCDS12939.1, CCDS59426.1	19q13.43	2013-01-09			ENSG00000167685	ENSG00000167685	55311	55311		-, Zinc fingers, C2H2-type	16052	protein-coding gene	gene with protein product		607874			NA	11978792, 19760602	Standard	NM_018337	NM_001253792	NA	Approved	ZSCAN17, FLJ11137, EZF2	uc002qmm.3	Q8N0Y2		ENST00000337080.3:c.225C>T	19.37:g.56658505C>T		NA	Q8TEQ9|Q8WU35|Q9NUU1	37	CCDS12939.1																																																																																			ZNF444-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457503.1		+	ENST00000337080.3	Silent	SNP	19 : 56658505 - 56658505 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	76	12
KRT17	3872	broad.mit.edu	37	17	39777096	39777096	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39777096C>A	ENST00000311208.8	-	6	1063	c.996G>T	c.(994-996)gaG>gaT	p.E332D	JUP_ENST00000540235.1_Missense_Mutation_p.E491D	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	332	Coil 2.|Peptide epitope S4; induces T-cell and keratinocyte proliferation and IFN-gamma production.|Rod.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				AGTAGCGGTTCTCTGTCTCCG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(92;1242 2086 39193 50508)							NA				0													49	50	49			NA	NA	17		NA											NA				39777096		2202	4300	6502	SO:0001583	missense			X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422	3872	3872		-, Intermediate filaments type I, keratins (acidic)	6427	protein-coding gene	gene with protein product		148069		PCHC1	NA	7539673, 1281771, 16831889	Standard	NM_000422	NM_000422	NA	Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.996G>T	17.37:g.39777096C>A	ENSP00000308452:p.Glu332Asp	NA	A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	37	CCDS11402.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076142	0.55646	.	.	ENSG00000128422;ENSG00000173801	ENST00000311208;ENST00000540235	D;D	0.91894	-2.93;-2.93	4.0	3.03	0.35002	Filament (1);	0.138484	0.32868	N	0.005548	D	0.93252	0.7850	M	0.86268	2.805	0.23287	N	0.99798	B	0.27823	0.19	B	0.40375	0.327	D	0.88549	0.3115	10	0.72032	D	0.01	.	10.116	0.42591	0.0:0.8399:0.0:0.1601	.	332	Q04695	K1C17_HUMAN	D	332;491	ENSP00000308452:E332D;ENSP00000441751:E491D	ENSP00000441751:E491D	E	-	3	2	JUP;KRT17	37030622	0.006000	0.16342	1.000000	0.80357	0.983000	0.72400	0.138000	0.16016	2.234000	0.73211	0.462000	0.41574	GAG	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257460.1		-	ENST00000311208.8	Missense_Mutation	SNP	17 : 39777096 - 39777096 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	465	104
LONRF2	164832	broad.mit.edu	37	2	100903511	100903511	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100903511C>A	ENST00000393437.3	-	11	2574	c.1935G>T	c.(1933-1935)gaG>gaT	p.E645D	LONRF2_ENST00000409647.1_Missense_Mutation_p.E402D	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	645	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						GTTCTTCATACTCTGGACCCT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	67	75			NA	NA	2		NA											NA				100903511		2203	4300	6503	SO:0001583	missense			AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500	164832	164832		RING-type (C3HC4) zinc fingers	24788	protein-coding gene	gene with protein product					NA		Standard	NM_198461	NM_198461	NA	Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1935G>T	2.37:g.100903511C>A	ENSP00000377086:p.Glu645Asp	NA	B9A006|Q6ZSR4	37	CCDS2046.2	.	.	.	.	.	.	.	.	.	.	C	5.254	0.232343	0.09969	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	D;D	0.86562	-1.99;-2.14	4.95	1.78	0.24846	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.356504	0.31031	N	0.008395	T	0.77916	0.4202	L	0.35288	1.05	0.34150	D	0.667401	B	0.22541	0.071	B	0.29785	0.107	T	0.69030	-0.5253	10	0.14656	T	0.56	-6.4393	8.2426	0.31669	0.0:0.5979:0.1406:0.2615	.	645	Q1L5Z9	LONF2_HUMAN	D	645;402	ENSP00000377086:E645D;ENSP00000386823:E402D	ENSP00000377086:E645D	E	-	3	2	LONRF2	100269943	0.230000	0.23740	0.173000	0.22940	0.351000	0.29236	-0.455000	0.06762	0.390000	0.25115	0.655000	0.94253	GAG	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253161.2		-	ENST00000393437.3	Missense_Mutation	SNP	2 : 100903511 - 100903511 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	231	51
SDHA	6389	broad.mit.edu	37	5	251561	251561	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:251561C>T	ENST00000264932.6	+	13	1887	c.1772C>T	c.(1771-1773)gCg>gTg	p.A591V	SDHA_ENST00000504309.1_Intron|SDHA_ENST00000510361.1_Missense_Mutation_p.A543V|SDHA_ENST00000507522.1_3'UTR	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	591				A -> T (in Ref. 3; AAD51006).	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TCACGGGGCGCGCATGCCAGG	0.627		NA							Familial Paragangliomas					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								T	VAL/ALA	0,4406		0,0,2203	47	53	51		1772	3.8	0	5		51	1,8599		0,1,4299	no	missense	SDHA	NM_004168.2	64	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	591/665	251561	1,13005	2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578	6389	6389		Mitochondrial respiratory chain complex / Complex II	10680	protein-coding gene	gene with protein product		600857		SDH2	NA	7798181	Standard	NM_004168	XM_005248329	NA	Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1772C>T	5.37:g.251561C>T	ENSP00000264932:p.Ala591Val	NA	A8K5J6|Q16395|Q9UMY5	37	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	N	12.84	2.058988	0.36373	0.0	1.16E-4	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000510361;ENST00000509564	D;D;D	0.85258	-1.96;-1.96;-1.96	3.79	3.79	0.43588	Fumarate reductase/succinate dehydrogenase flavoprotein-like, C-terminal (2);Fumarate reductase/succinate dehydrogenase flavoprotein, C-terminal (1);	0.145674	0.45606	U	0.000356	D	0.93301	0.7865	M	0.92691	3.335	0.80722	D	1	D;P;D;P	0.89917	1.0;0.912;0.998;0.825	D;B;P;B	0.71656	0.974;0.321;0.845;0.207	D	0.94746	0.7923	10	0.87932	D	0	.	13.5022	0.61462	0.0:1.0:0.0:0.0	.	543;591;185;591	E9PBJ5;B4DYN5;B3KYA5;P31040	.;.;.;DHSA_HUMAN	V	591;446;543;37	ENSP00000264932:A591V;ENSP00000427703:A543V;ENSP00000421911:A37V	ENSP00000264932:A591V	A	+	2	0	SDHA	304561	1.000000	0.71417	0.018000	0.16275	0.025000	0.11179	5.353000	0.66034	1.853000	0.53794	0.305000	0.20034	GCG	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206599.1		+	ENST00000264932.6	Missense_Mutation	SNP	5 : 251561 - 251561 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	283	56
LAMA5	3911	broad.mit.edu	37	20	60922054	60922054	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60922054G>A	ENST00000252999.3	-	7	1053	c.987C>T	c.(985-987)tgC>tgT	p.C329C	LAMA5_ENST00000370692.3_Silent_p.C329C|LAMA5_ENST00000370677.3_Silent_p.C329C	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	329	Laminin EGF-like 1.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGTGCCCCCGCAGGTGTTGT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4403	2.1+/-5.4	0,1,2201	34	35	34		987	-6.9	0.1	20		34	0,8584		0,0,4292	no	coding-synonymous	LAMA5	NM_005560.3		0,1,6493	AA,AG,GG	NA	0.0,0.0227,0.0077		329/3696	60922054	1,12987	2202	4292	6494	SO:0001819	synonymous_variant			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702	3911	3911		Laminins	6485	protein-coding gene	gene with protein product		601033			NA	9271224	Standard	NM_005560	NM_005560	NA	Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.987C>T	20.37:g.60922054G>A		NA	Q8TDF8|Q8WZA7|Q9H1P1	37	CCDS33502.1																																																																																			LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080014.2		-	ENST00000252999.3	Silent	SNP	20 : 60922054 - 60922054 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	222	38
PTPRE	5791	broad.mit.edu	37	10	129868066	129868066	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129868066A>G	ENST00000254667.3	+	13	1397	c.1118A>G	c.(1117-1119)cAg>cGg	p.Q373R	PTPRE_ENST00000419012.2_Missense_Mutation_p.Q373R|PTPRE_ENST00000306042.5_Missense_Mutation_p.Q315R	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	373	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				ATCCGTAATCAGCGCCCTCAG	0.542		NA									OREG0020623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(52;977 1184 20575 41685)							NA				0													266	210	229			NA	NA	10		NA											NA				129868066		2203	4300	6503	SO:0001583	missense			AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334	5791	5791		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like	9669	protein-coding gene	gene with protein product		600926			NA	8595895	Standard		NM_130435	NA	Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.1118A>G	10.37:g.129868066A>G	ENSP00000254667:p.Gln373Arg	1575	Q13345|Q5VWH3|Q96KQ6	37	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.819271	0.90873	.	.	ENSG00000132334	ENST00000254667;ENST00000439034;ENST00000419012;ENST00000306042	D;D;D	0.85861	-2.04;-2.04;-2.04	5.0	5.0	0.66597	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.93086	0.7799	M	0.90198	3.095	0.80722	D	1	D;D;P;D	0.76494	0.999;0.985;0.949;0.985	D;D;P;D	0.72338	0.977;0.93;0.814;0.93	D	0.93555	0.6890	10	0.45353	T	0.12	.	14.5529	0.68081	1.0:0.0:0.0:0.0	.	351;373;315;373	F5H0X4;Q5VWH4;P23469-2;P23469	.;.;.;PTPRE_HUMAN	R	373;351;373;315	ENSP00000254667:Q373R;ENSP00000402337:Q373R;ENSP00000303350:Q315R	ENSP00000254667:Q373R	Q	+	2	0	PTPRE	129758056	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.106000	0.94253	2.099000	0.63709	0.533000	0.62120	CAG	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050990.1		+	ENST00000254667.3	Missense_Mutation	SNP	10 : 129868066 - 129868066 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	599	98
SLC9A5	6553	broad.mit.edu	37	16	67292264	67292264	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67292264C>T	ENST00000299798.11	+	10	1605	c.1540C>T	c.(1540-1542)Cga>Tga	p.R514*		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	514					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GCTGCTGATGCGACGATCAGC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	66	64			NA	NA	16		NA											NA				67292264		2071	4214	6285	SO:0001587	stop_gained				CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740	6553	6553		Solute carriers	11078	protein-coding gene	gene with protein product		600477	solute carrier family 9 (sodium/hydrogen exchanger), isoform 5, solute carrier family 9 (sodium/hydrogen exchanger), member 5		NA	7759094, 9933642	Standard		NM_004594	NA	Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1540C>T	16.37:g.67292264C>T	ENSP00000299798:p.Arg514*	NA	A5PKY7|Q9Y626	37	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	c	36	5.912023	0.97099	.	.	ENSG00000135740	ENST00000299798;ENST00000360183	.	.	.	5.24	4.28	0.50868	.	0.105727	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.837	0.57780	0.4038:0.5962:0.0:0.0	.	.	.	.	X	514;2	.	ENSP00000299798:R514X	R	+	1	2	SLC9A5	65849765	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	0.943000	0.29030	1.445000	0.47624	0.556000	0.70494	CGA	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421386.1		+	ENST00000299798.11	Nonsense_Mutation	SNP	16 : 67292264 - 67292264 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	295	55
REV3L	5980	broad.mit.edu	37	6	111678315	111678315	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111678315C>T	ENST00000358835.3	-	19	7540	c.7086G>A	c.(7084-7086)caG>caA	p.Q2362Q	REV3L_ENST00000368802.3_Silent_p.Q2362Q|REV3L_ENST00000368805.1_Silent_p.Q2362Q|REV3L_ENST00000435970.1_Silent_p.Q2284Q			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2362					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GTAATGGAGTCTGATATCTGA	0.269		NA						DNA polymerases (catalytic subunits)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	69	67			NA	NA	6		NA											NA				111678315		2203	4298	6501	SO:0001819	synonymous_variant			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413	5980	5980		DNA polymerases	9968	protein-coding gene	gene with protein product	polymerase, DNA, zeta	602776	REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta, REV3-like, catalytic subunit of DNA polymerase zeta (yeast)		NA	9618506, 9925914	Standard	NM_002912	NM_001286431	NA	Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.7086G>A	6.37:g.111678315C>T		NA	O43214|Q5TC33	37	CCDS5091.2																																																																																			REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043695.1		-	ENST00000358835.3	Silent	SNP	6 : 111678315 - 111678315 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	409	70
TINAGL1	64129	broad.mit.edu	37	1	32050933	32050933	+	Missense_Mutation	SNP	G	G	A	rs146987687		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32050933G>A	ENST00000271064.7	+	8	1115	c.1039G>A	c.(1039-1041)Ggc>Agc	p.G347S	TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000457433.2_Missense_Mutation_p.G316S	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	347					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CTACCGCCTCGGCTCCAACGT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	SER/GLY,SER/GLY,SER/GLY	4,4402	8.1+/-20.4	0,4,2199	83	92	89		946,724,1039	4.3	0.8	1	dbSNP_134	89	0,8600		0,0,4300	no	missense,missense,missense	TINAGL1	NM_001204414.1,NM_001204415.1,NM_022164.2	56,56,56	0,4,6499	AA,AG,GG	NA	0.0,0.0908,0.0308	benign,benign,benign	316/437,242/363,347/468	32050933	4,13002	2203	4300	6503	SO:0001583	missense			AB050716	CCDS343.1, CCDS55586.1, CCDS72745.1	1p34.3	2014-04-22	2005-08-18	2005-08-18	ENSG00000142910	ENSG00000142910	64129	64129			19168	protein-coding gene	gene with protein product			lipocalin 7, TINAG-like 1	LCN7	NA	11170462	Standard	NM_022164	NM_022164	NA	Approved	P3ECSL, LIECG3, ARG1, TINAGRP	uc001bta.3	Q9GZM7	OTTHUMG00000003884	ENST00000271064.7:c.1039G>A	1.37:g.32050933G>A	ENSP00000271064:p.Gly347Ser	NA	A8K9Q5|D3DPN8|Q8TEJ9|Q8WZ23|Q96GZ4|Q96JW3	37	CCDS343.1	.	.	.	.	.	.	.	.	.	.	g	0.036	-1.304398	0.01353	9.08E-4	0.0	ENSG00000142910	ENST00000457433;ENST00000271064;ENST00000403321	D;D	0.86097	-2.07;-2.07	5.31	4.29	0.51040	Peptidase C1A, papain C-terminal (2);	0.229383	0.45361	D	0.000367	T	0.55289	0.1911	N	0.00413	-1.525	0.80722	D	1	B;B	0.20671	0.037;0.047	B;B	0.15052	0.009;0.012	T	0.64347	-0.6429	10	0.02654	T	1	.	15.0297	0.71696	0.0:0.0:0.8029:0.1971	.	316;347	B4DPK6;Q9GZM7	.;TINAL_HUMAN	S	316;347;335	ENSP00000395137:G316S;ENSP00000271064:G347S	ENSP00000271064:G347S	G	+	1	0	TINAGL1	31823520	0.999000	0.42202	0.790000	0.31976	0.009000	0.06853	3.019000	0.49635	2.655000	0.90218	0.655000	0.94253	GGC	TINAGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000011072.1		+	ENST00000271064.7	Missense_Mutation	SNP	1 : 32050933 - 32050933 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	654	150
KRTAP5-1	387264	broad.mit.edu	37	11	1606276	1606276	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1606276G>A	ENST00000382171.2	-	1	237	c.204C>T	c.(202-204)ggC>ggT	p.G68G	KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	68	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AAGAGCCACAGCCCCCTTTGC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	94	89			NA	NA	11		NA											NA				1606276		2201	4299	6500	SO:0001819	synonymous_variant			AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869	387264	387264		Keratin associated proteins	23596	protein-coding gene	gene with protein product		148022	keratin, cuticle, ultrahigh sulphur 1-like	KRN1L	NA	15144888	Standard	NM_001005922	NM_001005922	NA	Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.204C>T	11.37:g.1606276G>A		NA		37	CCDS31330.1																																																																																			KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000127922.1		-	ENST00000382171.2	Silent	SNP	11 : 1606276 - 1606276 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1496	268
PRKACG	5568	broad.mit.edu	37	9	71628546	71628546	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71628546C>T	ENST00000377276.2	-	1	493	c.463G>A	c.(463-465)Gtc>Atc	p.V155I		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	155	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AGGTACTGGACGGCCAGGACG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(110;2236 2623 32146)							NA				0													56	49	51			NA	NA	9		NA											NA				71628546		2203	4300	6503	SO:0001583	missense			M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	5568	5568	2.7.11.1		9382	protein-coding gene	gene with protein product		176893			NA	2342480, 9598317	Standard		NM_002732	NA	Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.463G>A	9.37:g.71628546C>T	ENSP00000366488:p.Val155Ile	NA	O60850|Q5VZ02|Q86YI1	37	CCDS6625.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.878012	0.51801	.	.	ENSG00000165059	ENST00000377276	T	0.08008	3.14	1.49	-2.77	0.05877	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.32028	U	0.006695	T	0.03263	0.0095	N	0.16602	0.42	0.09310	N	0.999999	B	0.10296	0.003	B	0.04013	0.001	T	0.33111	-0.9881	10	0.31617	T	0.26	.	0.4807	0.00547	0.4379:0.2053:0.1547:0.2021	.	155	P22612	KAPCG_HUMAN	I	155	ENSP00000366488:V155I	ENSP00000366488:V155I	V	-	1	0	PRKACG	70818366	0.241000	0.23857	0.000000	0.03702	0.002000	0.02628	1.058000	0.30504	-1.715000	0.01389	-0.520000	0.04383	GTC	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052559.1		-	ENST00000377276.2	Missense_Mutation	SNP	9 : 71628546 - 71628546 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	157	32
HMCN1	83872	broad.mit.edu	37	1	186022185	186022185	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186022185A>C	ENST00000271588.4	+	43	6908	c.6679A>C	c.(6679-6681)Aat>Cat	p.N2227H	HMCN1_ENST00000367492.2_Missense_Mutation_p.N2227H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2227	Ig-like C2-type 20.				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						TCCACCCCCAAATCTCATCTG	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	93	94			NA	NA	1		NA											NA				186022185		2203	4300	6503	SO:0001583	missense			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.6679A>C	1.37:g.186022185A>C	ENSP00000271588:p.Asn2227His	NA	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	12.56	1.974850	0.34848	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67345	-0.26;-0.26	5.3	2.85	0.33270	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.220495	0.53938	D	0.000048	T	0.48995	0.1531	L	0.31420	0.93	0.24021	N	0.996143	B	0.11235	0.004	B	0.13407	0.009	T	0.38001	-0.9681	10	0.45353	T	0.12	.	5.1565	0.15038	0.638:0.1428:0.2192:0.0	.	2227	Q96RW7	HMCN1_HUMAN	H	2227	ENSP00000271588:N2227H;ENSP00000356462:N2227H	ENSP00000271588:N2227H	N	+	1	0	HMCN1	184288808	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	3.908000	0.56355	0.273000	0.22049	0.455000	0.32223	AAT	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131848.1		+	ENST00000271588.4	Missense_Mutation	SNP	1 : 186022185 - 186022185 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	513	83
TH	7054	broad.mit.edu	37	11	2186913	2186913	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2186913G>T	ENST00000381178.1	-	12	1296	c.1278C>A	c.(1276-1278)tcC>tcA	p.S426S	TH_ENST00000333684.5_Silent_p.S305S|TH_ENST00000352909.3_Silent_p.S395S|TH_ENST00000381175.1_Silent_p.S422S	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	426					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GCTCCCCGTAGGAGGACAGCA	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	55	56			NA	NA	11		NA											NA				2186913		2199	4297	6496	SO:0001819	synonymous_variant			X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	7054	7054	1.14.16.2		11782	protein-coding gene	gene with protein product	tyrosine 3-monooxygenase	191290			NA		Standard	NM_000360	NM_199292	NA	Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.1278C>A	11.37:g.2186913G>T		NA	B7ZL70|Q15585|Q15588|Q15589	37	CCDS7731.1	.	.	.	.	.	.	.	.	.	.	G	3.918	-0.018787	0.07681	.	.	ENSG00000180176	ENST00000412076	.	.	.	4.03	4.03	0.46877	.	.	.	.	.	T	0.60971	0.2310	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59473	-0.7448	4	.	.	.	5.293	10.8905	0.46992	0.0:0.0:0.812:0.188	.	.	.	.	I	115	.	.	L	-	1	2	TH	2143489	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	1.446000	0.35090	1.970000	0.57323	0.491000	0.48974	CTA	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026597.1		-	ENST00000381178.1	Silent	SNP	11 : 2186913 - 2186913 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	196	29
HMX2	3167	broad.mit.edu	37	10	124909094	124909094	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124909094A>G	ENST00000339992.3	+	2	534	c.277A>G	c.(277-279)Aag>Gag	p.K93E		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	93					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		AGGTACCCCCAAGGGCAGCGG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	34	31			NA	NA	10		NA											NA				124909094		2116	4235	6351	SO:0001583	missense				CCDS31305.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188816	ENSG00000188816	3167	3167		Homeoboxes / ANTP class : NKL subclass	5018	protein-coding gene	gene with protein product		600647	homeo box (H6 family) 2		NA	7647458	Standard	XM_370580	XM_005269743	NA	Approved	NKX5-2	uc001lhc.1	A2RU54	OTTHUMG00000019198	ENST00000339992.3:c.277A>G	10.37:g.124909094A>G	ENSP00000341108:p.Lys93Glu	NA	B2RNV5	37	CCDS31305.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.738077	0.49045	.	.	ENSG00000188816	ENST00000339992	D	0.89939	-2.59	4.79	4.79	0.61399	.	0.175281	0.48767	D	0.000163	T	0.77491	0.4138	L	0.27053	0.805	0.43857	D	0.996451	B	0.12013	0.005	B	0.09377	0.004	T	0.67995	-0.5526	10	0.05721	T	0.95	.	8.4983	0.33141	0.913:0.0:0.087:0.0	.	93	A2RU54	HMX2_HUMAN	E	93	ENSP00000341108:K93E	ENSP00000341108:K93E	K	+	1	0	HMX2	124899084	0.997000	0.39634	1.000000	0.80357	0.947000	0.59692	3.684000	0.54671	2.004000	0.58718	0.533000	0.62120	AAG	HMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050841.1		+	ENST00000339992.3	Missense_Mutation	SNP	10 : 124909094 - 124909094 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	508	98
ADAMTS4	9507	broad.mit.edu	37	1	161161259	161161259	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161161259G>A	ENST00000367996.5	-	9	2611	c.2183C>T	c.(2182-2184)gCc>gTc	p.A728V		NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	NA	Spacer.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CAGCTTCAGGGCCAAGTAGAT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	69	68			NA	NA	1		NA											NA				161161259		2203	4300	6503	SO:0001583	missense			AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859	9507	9507		ADAM metallopeptidases with thrombospondin type 1 motif	220	protein-coding gene	gene with protein product		603876	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4		NA	10094461	Standard	NM_005099	NM_005099	NA	Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.2183C>T	1.37:g.161161259G>A	ENSP00000356975:p.Ala728Val	NA	Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	37	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.867031	0.91511	.	.	ENSG00000158859	ENST00000367996	T	0.63255	-0.03	4.39	4.39	0.52855	ADAM-TS Spacer 1 (1);	0.088861	0.46758	D	0.000278	T	0.67813	0.2933	M	0.78801	2.425	0.80722	D	1	P	0.45474	0.859	P	0.51777	0.679	T	0.74281	-0.3716	10	0.87932	D	0	.	16.2366	0.82380	0.0:0.0:1.0:0.0	.	728	O75173	ATS4_HUMAN	V	728	ENSP00000356975:A728V	ENSP00000356975:A728V	A	-	2	0	ADAMTS4	159427883	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.382000	0.79729	2.428000	0.82296	0.561000	0.74099	GCC	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083066.2		-	ENST00000367996.5	Missense_Mutation	SNP	1 : 161161259 - 161161259 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	550	102
TTC27	55622	broad.mit.edu	37	2	33036232	33036232	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:33036232C>T	ENST00000317907.4	+	17	2371	c.2140C>T	c.(2140-2142)Ctg>Ttg	p.L714L		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	714							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						AATCTGGAGGCTGTATGCCCA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	112	113			NA	NA	2		NA											NA				33036232		2203	4300	6503	SO:0001819	synonymous_variant			BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699	55622	55622		Tetratricopeptide (TTC) repeat domain containing	25986	protein-coding gene	gene with protein product					NA		Standard	NM_017735	NM_001193509	NA	Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.2140C>T	2.37:g.33036232C>T		NA	A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	37	CCDS33176.1																																																																																			TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325395.1		+	ENST00000317907.4	Silent	SNP	2 : 33036232 - 33036232 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	291	53
SAP18	10284	broad.mit.edu	37	13	21720978	21720978	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21720978G>A	ENST00000382533.4	+	3	313	c.274G>A	c.(274-276)Gta>Ata	p.V92I	SAP18_ENST00000607003.1_Missense_Mutation_p.V73I	NM_005870.4	NP_005861.2	O00422	SAP18_HUMAN	Sin3A-associated protein, 18kDa	73					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|plasma membrane	protein binding|transcription corepressor activity			kidney(1)|large_intestine(1)|lung(4)	6		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)		GACAAGCTTAGTAAAAGAAGT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	98	99			NA	NA	13		NA											NA				21720978		2203	4300	6503	SO:0001583	missense			U96915	CCDS9295.2	13q12.11	2008-02-05	2006-02-02		ENSG00000150459	ENSG00000150459	10284	10284			10530	protein-coding gene	gene with protein product		602949	sin3A-associated protein, 18kDa		NA	9150135	Standard	NM_005870	NM_005870	NA	Approved	SAP18p, 2HOR0202, MGC27131	uc001uns.3	O00422	OTTHUMG00000016535	ENST00000382533.4:c.274G>A	13.37:g.21720978G>A	ENSP00000371973:p.Val92Ile	NA	B2R494|Q2TTR4|Q6IAW9|Q8N606|Q9UF14	37	CCDS9295.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.05|15.05	2.719292|2.719292	0.48728|0.48728	.|.	.|.	ENSG00000150459|ENSG00000150459	ENST00000450573|ENST00000382533	.|.	.|.	.|.	5.72|5.72	4.88|4.88	0.63580|0.63580	.|.	.|0.051574	.|0.85682	.|D	.|0.000000	T|T	0.55033|0.55033	0.1895|0.1895	L|L	0.35288|0.35288	1.05|1.05	0.80722|0.80722	D|D	1|1	.|B	.|0.18863	.|0.031	.|B	.|0.32211	.|0.142	T|T	0.49380|0.49380	-0.8946|-0.8946	5|9	.|0.25751	.|T	.|0.34	-27.8251|-27.8251	14.9155|14.9155	0.70792|0.70792	0.0689:0.0:0.9311:0.0|0.0689:0.0:0.9311:0.0	.|.	.|73	.|O00422	.|SAP18_HUMAN	N|I	86|92	.|.	.|ENSP00000371973:V92I	S|V	+|+	2|1	0|0	SAP18|SAP18	20618978|20618978	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	9.614000|9.614000	0.98353|0.98353	1.424000|1.424000	0.47217|0.47217	0.555000|0.555000	0.69702|0.69702	AGT|GTA	SAP18-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044109.3		+	ENST00000382533.4	Missense_Mutation	SNP	13 : 21720978 - 21720978 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	352	61
ESPNL	339768	broad.mit.edu	37	2	239040166	239040166	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239040166G>T	ENST00000343063.3	+	9	3074	c.2811G>T	c.(2809-2811)acG>acT	p.T937T	ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409169.1_Silent_p.T893T|ESPNL_ENST00000409506.1_Silent_p.T569T	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	937										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCTGGGATACGGAGCCTGGCC	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	15	14			NA	NA	2		NA											NA				239040166		2185	4276	6461	SO:0001819	synonymous_variant			AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488	339768	339768		Ankyrin repeat domain containing	27937	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_194312	NM_194312	NA	Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.2811G>T	2.37:g.239040166G>T		NA	Q66K27|Q6ZVG1|Q8IVU2	37	CCDS2525.1																																																																																			ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257164.2		+	ENST00000343063.3	Silent	SNP	2 : 239040166 - 239040166 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	194	35
FBXW5	54461	broad.mit.edu	37	9	139836053	139836053	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139836053C>T	ENST00000325285.3	-	7	1259	c.1180G>A	c.(1180-1182)Gcg>Acg	p.A394T	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	394							catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		TGGTCCAGCGCGTCGAAGAAG	0.662		NA											C	1	5e-04	NA	NA	2184	NA	0.9999	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.9135	EXOME	NA	NA	7e-04	SNP								NA				0													84	68	73			NA	NA	9		NA											NA				139836053		2197	4296	6493	SO:0001583	missense			BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069	54461	54461		F-boxes / WD-40 domains, WD repeat domain containing	13613	protein-coding gene	gene with protein product		609072	F-box and WD-40 domain protein 5		NA		Standard	NM_018998	NM_018998	NA	Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.1180G>A	9.37:g.139836053C>T	ENSP00000313034:p.Ala394Thr	NA	B2RDZ6|Q5SPZ8|Q5SPZ9|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	37	CCDS7014.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	10.45	1.352848	0.24512	.	.	ENSG00000159069	ENST00000325285;ENST00000433269	T;T	0.64438	-0.1;1.64	4.09	0.713	0.18173	WD40/YVTN repeat-like-containing domain (1);Soluble quinoprotein glucose/sorbosone dehydrogenase (1);	0.246961	0.42548	D	0.000693	T	0.40743	0.1129	L	0.29908	0.895	0.39497	D	0.968138	P;P	0.37122	0.583;0.455	B;B	0.27887	0.084;0.035	T	0.28839	-1.0031	10	0.18276	T	0.48	-13.1478	12.3652	0.55224	0.5479:0.4521:0.0:0.0	.	259;394	Q59ET5;Q969U6	.;FBXW5_HUMAN	T	394;229	ENSP00000313034:A394T;ENSP00000409102:A229T	ENSP00000313034:A394T	A	-	1	0	FBXW5	138955874	0.693000	0.27728	0.054000	0.19295	0.435000	0.31806	1.513000	0.35823	0.416000	0.25844	0.561000	0.74099	GCG	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055227.1		-	ENST00000325285.3	Missense_Mutation	SNP	9 : 139836053 - 139836053 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	88	18
SBNO2	22904	broad.mit.edu	37	19	1109544	1109544	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1109544C>T	ENST00000587024.1	-	28	3357	c.3147G>A	c.(3145-3147)gcG>gcA	p.A1049A	SBNO2_ENST00000361757.3_Silent_p.A1059A|SBNO2_ENST00000438103.2_Silent_p.A1002A			Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	1059					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCCGTCAGCGCCAGCGACT	0.731		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													7	9	8			NA	NA	19		NA											NA				1109544		1863	4049	5912	SO:0001819	synonymous_variant			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932	22904	22904			29158	protein-coding gene	gene with protein product		615729	KIAA0963	KIAA0963	NA	10231032	Standard	NM_014963	NM_014963	NA	Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000587024.1:c.3147G>A	19.37:g.1109544C>T		NA	A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	37																																																																																				SBNO2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000458060.1		-	ENST00000587024.1	Silent	SNP	19 : 1109544 - 1109544 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	70	10
RABL3	285282	broad.mit.edu	37	3	120428633	120428633	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120428633C>T	ENST00000273375.3	-	3	291	c.262G>A	c.(262-264)Gta>Ata	p.V88I	RABL3_ENST00000483733.1_Missense_Mutation_p.V88I|RABL3_ENST00000491398.1_5'UTR	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	88	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		TTACCATTTACGGAGTTGTAG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ILE/VAL	0,4406		0,0,2203	83	82	82		262	3.9	1	3		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	RABL3	NM_173825.3	29	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign	88/237	120428633	1,13005	2203	4300	6503	SO:0001583	missense			BC020832	CCDS3001.1	3q13.33	2008-02-05			ENSG00000144840	ENSG00000144840	285282	285282			18072	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_173825	NM_173825	NA	Approved	MGC23920	uc003edx.3	Q5HYI8	OTTHUMG00000159668	ENST00000273375.3:c.262G>A	3.37:g.120428633C>T	ENSP00000273375:p.Val88Ile	NA	Q8WUD3	37	CCDS3001.1	.	.	.	.	.	.	.	.	.	.	C	4.558	0.103688	0.08731	0.0	1.16E-4	ENSG00000144840	ENST00000273375;ENST00000483733	T;T	0.74526	-0.85;-0.85	5.72	3.94	0.45596	.	0.171115	0.50627	N	0.000107	T	0.42517	0.1206	N	0.02697	-0.525	0.42127	D	0.99145	B	0.12013	0.005	B	0.08055	0.003	T	0.12915	-1.0529	10	0.15952	T	0.53	-3.7258	2.9984	0.06005	0.1445:0.5599:0.1399:0.1558	.	88	Q5HYI8	RABL3_HUMAN	I	88	ENSP00000273375:V88I;ENSP00000419986:V88I	ENSP00000273375:V88I	V	-	1	0	RABL3	121911323	1.000000	0.71417	0.998000	0.56505	0.928000	0.56348	2.196000	0.42686	0.766000	0.33244	0.655000	0.94253	GTA	RABL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356776.1		-	ENST00000273375.3	Missense_Mutation	SNP	3 : 120428633 - 120428633 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	332	26
PDE4DIP	9659	broad.mit.edu	37	1	144882762	144882762	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144882762G>A	ENST00000530740.1	-	27	3706	c.3668C>T	c.(3667-3669)aCt>aTt	p.T1223I	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.T1086I|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.T1086I|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.T1223I			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1086					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGTTACCACAGTCTCAACCAT	0.502		NA	T	PDGFRB	MPD									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													304	272	283			NA	NA	1		NA											NA				144882762		2203	4296	6499	SO:0001583	missense			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104	9659	9659			15580	protein-coding gene	gene with protein product	myomegalin	608117	cardiomyopathy associated 2	CMYA2	NA	9455484, 11134006	Standard	NM_022359	NM_022359	NA	Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000530740.1:c.3668C>T	1.37:g.144882762G>A	ENSP00000435654:p.Thr1223Ile	NA	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	37		.	.	.	.	.	.	.	.	.	.	G	14.90	2.672060	0.47781	.	.	ENSG00000178104	ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T	0.01474	4.86;4.86;4.85;4.86	5.27	3.32	0.38043	.	.	.	.	.	T	0.01222	0.0040	L	0.51422	1.61	0.18873	N	0.999989	D	0.56521	0.976	P	0.47864	0.559	T	0.53027	-0.8496	9	0.42905	T	0.14	.	5.7399	0.18087	0.0915:0.0:0.5945:0.314	.	1086	Q5VU43	MYOME_HUMAN	I	1086;1086;1223;1223	ENSP00000358360:T1086I;ENSP00000358363:T1086I;ENSP00000435654:T1223I;ENSP00000358366:T1223I	ENSP00000358360:T1086I	T	-	2	0	PDE4DIP	143594119	0.389000	0.25205	0.098000	0.21074	0.858000	0.48976	1.796000	0.38794	2.742000	0.94016	0.655000	0.94253	ACT	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000384663.2		-	ENST00000530740.1	Missense_Mutation	SNP	1 : 144882762 - 144882762 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1570	71
DEPDC1	55635	broad.mit.edu	37	1	68954087	68954087	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:68954087G>A	ENST00000456315.2	-	5	805	c.691C>T	c.(691-693)Cgt>Tgt	p.R231C	DEPDC1_ENST00000370966.5_Missense_Mutation_p.R231C	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	231					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		ACTACTCCACGTTTACTTGTA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/ARG,CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	150	140	143		691,691	5.3	1	1		143	0,8598		0,0,4299	no	missense,missense	DEPDC1	NM_001114120.1,NM_017779.4	180,180	0,1,6499	AA,AG,GG	NA	0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	231/812,231/528	68954087	1,12999	2201	4299	6500	SO:0001583	missense			AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526	55635	55635			22949	protein-coding gene	gene with protein product		612002			NA		Standard	NM_017779	NM_001114120	NA	Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.691C>T	1.37:g.68954087G>A	ENSP00000412292:p.Arg231Cys	NA	A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	37	CCDS44159.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.467382	0.43839	2.27E-4	0.0	ENSG00000024526	ENST00000456315;ENST00000370966;ENST00000370964;ENST00000525124	T;T;T	0.18174	2.23;2.23;2.23	5.34	5.34	0.76211	Rho GTPase activation protein (1);	0.133715	0.64402	D	0.000002	T	0.07908	0.0198	N	0.14661	0.345	0.38425	D	0.946294	P;P	0.52842	0.837;0.956	B;B	0.42882	0.326;0.401	T	0.09164	-1.0687	10	0.66056	D	0.02	-2.1483	19.0216	0.92917	0.0:0.0:1.0:0.0	.	231;231	Q5TB30;Q5TB30-2	DEP1A_HUMAN;.	C	231;231;176;10	ENSP00000412292:R231C;ENSP00000360005:R231C;ENSP00000431477:R10C	ENSP00000360003:R176C	R	-	1	0	DEPDC1	68726675	1.000000	0.71417	0.998000	0.56505	0.103000	0.19146	8.664000	0.91139	2.488000	0.83962	0.585000	0.79938	CGT	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025514.2		-	ENST00000456315.2	Missense_Mutation	SNP	1 : 68954087 - 68954087 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	275	22
F8	2157	broad.mit.edu	37	X	154175987	154175987	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:154175987G>A	ENST00000360256.4	-	13	2299	c.2099C>T	c.(2098-2100)tCg>tTg	p.S700L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	700	F5/8 type A 2.|Plastocyanin-like 4.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.S700L(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GTTTTCCATCGACATGAAGAC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	large_intestine(2)	GRCh37	CM010857	F8	M							147	139	142			NA	NA	X		NA											NA				154175987		2203	4300	6503	SO:0001583	missense			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010	2157	2157			3546	protein-coding gene	gene with protein product	Factor VIIIF8B, hemophilia A	300841		F8C	NA	6438528, 3935400	Standard		NM_000132	NA	Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.2099C>T	X.37:g.154175987G>A	ENSP00000353393:p.Ser700Leu	NA	Q5HY69	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	G	8.872	0.949534	0.18356	.	.	ENSG00000185010	ENST00000360256	D	0.98207	-4.79	4.55	3.68	0.42216	Cupredoxin (2);	0.708495	0.13962	N	0.350791	D	0.93959	0.8066	N	0.21097	0.63	0.24012	N	0.996173	D	0.55172	0.97	B	0.39840	0.311	D	0.88960	0.3393	10	0.51188	T	0.08	-11.974	6.0793	0.19933	0.1092:0.1868:0.704:0.0	.	700	P00451	FA8_HUMAN	L	700	ENSP00000353393:S700L	ENSP00000353393:S700L	S	-	2	0	F8	153829181	0.890000	0.30428	0.997000	0.53966	0.299000	0.27559	1.647000	0.37260	0.829000	0.34733	-0.192000	0.12808	TCG	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058869.4		-	ENST00000360256.4	Missense_Mutation	SNP	X : 154175987 - 154175987 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	489	54
SNRK	54861	broad.mit.edu	37	3	43344702	43344702	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:43344702G>T	ENST00000296088.7	+	3	311	c.7G>T	c.(7-9)Gga>Tga	p.G3*	SNRK_ENST00000454177.1_Nonsense_Mutation_p.G3*|SNRK_ENST00000429705.2_Nonsense_Mutation_p.G3*|SNRK_ENST00000462810.1_3'UTR|SNRK_ENST00000437827.1_Intron	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	3					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		CAGCATGGCAGGATTTAAGCG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	84	85			NA	NA	3		NA											NA				43344702		1825	4087	5912	SO:0001587	stop_gained			D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788	54861	54861			30598	protein-coding gene	gene with protein product		612760			NA	8654423, 7788527	Standard	NM_017719	NM_017719	NA	Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.7G>T	3.37:g.43344702G>T	ENSP00000296088:p.Gly3*	NA	B2RAV6|Q14706|Q68D15|Q6IQ46|Q9NXI7	37	CCDS43075.1	.	.	.	.	.	.	.	.	.	.	G	40	8.126873	0.98667	.	.	ENSG00000163788	ENST00000454177;ENST00000429705;ENST00000296088	.	.	.	5.8	4.92	0.64577	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.8493	0.85989	0.0:0.1286:0.8714:0.0	.	.	.	.	X	3	.	ENSP00000296088:G3X	G	+	1	0	SNRK	43319706	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.476000	0.97823	1.425000	0.47237	0.655000	0.94253	GGA	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344325.1		+	ENST00000296088.7	Nonsense_Mutation	SNP	3 : 43344702 - 43344702 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	334	55
VIPR2	7434	broad.mit.edu	37	7	158835849	158835849	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158835849C>T	ENST00000262178.2	-	6	659	c.474G>A	c.(472-474)agG>agA	p.R158R	VIPR2_ENST00000377633.3_Silent_p.R142R|VIPR2_ENST00000402066.1_Silent_p.R299R	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	158					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		GGATGTAATTCCTGGTGCAGT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(154;1876 1931 2329 17914 20079)							NA				0													113	98	103			NA	NA	7		NA											NA				158835849		2203	4300	6503	SO:0001819	synonymous_variant			CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018	7434	7434		GPCR / Class B : VIP and PACAP (ADCYAP1) receptors	12695	protein-coding gene	gene with protein product	VIP and PACAP receptor 2	601970			NA	7811244	Standard	NM_003382	NM_003382	NA	Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.474G>A	7.37:g.158835849C>T		NA	Q13053|Q15870|Q53Y09|Q9UCW0	37	CCDS5950.1																																																																																			VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322675.1		-	ENST00000262178.2	Silent	SNP	7 : 158835849 - 158835849 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	193	33
CWH43	80157	broad.mit.edu	37	4	49000506	49000506	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:49000506G>A	ENST00000513409.1	+	6	847	c.662G>A	c.(661-663)gGa>gAa	p.G221E	CWH43_ENST00000226432.4_Missense_Mutation_p.G248E			Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	248					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TTGGCAAGTGGATTGATGCTT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													565	430	476			NA	NA	4		NA											NA				49000506		2203	4300	6503	SO:0001583	missense				CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182	80157	80157			26133	protein-coding gene	gene with protein product					NA	17714445, 17761529	Standard	NM_025087	NM_025087	NA	Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000513409.1:c.662G>A	4.37:g.49000506G>A	ENSP00000422802:p.Gly221Glu	NA	B2RPD7	37		.	.	.	.	.	.	.	.	.	.	G	16.32	3.089447	0.55968	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.52526	1.22;0.66	4.16	4.16	0.48862	.	0.000000	0.47455	D	0.000229	T	0.66839	0.2830	M	0.69823	2.125	0.46437	D	0.999042	D	0.89917	1.0	D	0.97110	1.0	T	0.67573	-0.5636	9	.	.	.	.	15.8982	0.79350	0.0:0.0:1.0:0.0	.	248	Q9H720	PG2IP_HUMAN	E	248;221	ENSP00000226432:G248E;ENSP00000422802:G221E	.	G	+	2	0	CWH43	48695263	1.000000	0.71417	0.997000	0.53966	0.370000	0.29829	5.658000	0.68003	2.618000	0.88619	0.591000	0.81541	GGA	CWH43-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000361404.2		+	ENST00000513409.1	Missense_Mutation	SNP	4 : 49000506 - 49000506 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	572	85
POM121	9883	broad.mit.edu	37	7	72413671	72413671	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72413671T>G	ENST00000395270.1	+	14	3385	c.2344T>G	c.(2344-2346)Ttc>Gtc	p.F782V	POM121_ENST00000358357.3_Missense_Mutation_p.F782V|POM121_ENST00000434423.2_Missense_Mutation_p.F1047V|POM121_ENST00000446813.1_Missense_Mutation_p.F782V|POM121_ENST00000257622.4_Missense_Mutation_p.F782V	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1047	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GGCTTCGGCCTTCGGCGCTCC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	41	40			NA	NA	7		NA											NA				72413671		2203	4296	6499	SO:0001583	missense			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313	9883	9883		-	19702	protein-coding gene	gene with protein product		615753	POM121 membrane glycoprotein (rat), POM121 membrane glycoprotein		NA	8335683, 9734811, 17900573	Standard		NM_172020	NA	Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000395270.1:c.2344T>G	7.37:g.72413671T>G	ENSP00000378687:p.Phe782Val	NA	A6NFS9|A8CDT4|A8K933|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	37	CCDS59059.1	.	.	.	.	.	.	.	.	.	.	T	10.83	1.461648	0.26248	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.09163	3.01;3.13;3.01;3.13;3.37	2.87	2.87	0.33458	.	0.000000	0.40728	N	0.001028	T	0.24122	0.0584	M	0.77820	2.39	0.09310	N	1	D;D	0.61697	0.986;0.99	P;D	0.63192	0.797;0.912	T	0.08411	-1.0723	10	0.15952	T	0.53	.	8.67	0.34145	0.0:0.0:0.0:1.0	.	782;1047	A8MXF9;Q96HA1	.;P121A_HUMAN	V	782;782;782;782;1047	ENSP00000393020:F782V;ENSP00000257622:F782V;ENSP00000378687:F782V;ENSP00000351124:F782V;ENSP00000405562:F1047V	ENSP00000257622:F782V	F	+	1	0	POM121	72051607	1.000000	0.71417	0.030000	0.17652	0.090000	0.18270	5.284000	0.65627	1.316000	0.45131	0.145000	0.16022	TTC	POM121-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252020.1		+	ENST00000395270.1	Missense_Mutation	SNP	7 : 72413671 - 72413671 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	598	71
NFIX	4784	broad.mit.edu	37	19	13192511	13192511	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13192511G>T	ENST00000360105.4	+	7	1047	c.982G>T	c.(982-984)Gca>Tca	p.A328S	NFIX_ENST00000587260.1_Missense_Mutation_p.A365S|NFIX_ENST00000358552.3_Missense_Mutation_p.A324S|NFIX_ENST00000397661.2_Missense_Mutation_p.A366S|NFIX_ENST00000587760.1_Missense_Mutation_p.A358S|NFIX_ENST00000585575.1_Missense_Mutation_p.A358S|NFIX_ENST00000592199.1_Missense_Mutation_p.A366S|NFIX_ENST00000588228.1_Missense_Mutation_p.A319S			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	346					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CCGGGCCACAGCATCAGCCCT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	58	55			NA	NA	19		NA											NA				13192511		2151	4246	6397	SO:0001583	missense			U18761	CCDS45996.1, CCDS59359.1	19p13.3	2008-02-05				ENSG00000008441	4784	4784			7788	protein-coding gene	gene with protein product		164005			NA	8340106, 7590749	Standard	NM_002501	NM_001271043	NA	Approved	NF1A	uc010xmx.2	Q14938		ENST00000360105.4:c.982G>T	19.37:g.13192511G>T	ENSP00000353219:p.Ala328Ser	NA	O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	37		.	.	.	.	.	.	.	.	.	.	G	14.63	2.592520	0.46214	.	.	ENSG00000008441	ENST00000397661;ENST00000360105;ENST00000264825;ENST00000358552	T;T	0.41758	0.99;0.99	5.8	5.8	0.92144	.	0.053036	0.85682	D	0.000000	T	0.56863	0.2014	L	0.52364	1.645	0.51233	D	0.999917	D;D;D;D;D	0.89917	1.0;0.999;0.996;1.0;0.999	D;D;D;D;D	0.87578	0.998;0.994;0.987;0.998;0.994	T	0.44452	-0.9327	10	0.07482	T	0.82	.	18.8323	0.92145	0.0:0.0:1.0:0.0	.	374;365;328;366;366	B4DHW2;Q14938-5;F8W8H9;Q14938;Q14938-3	.;.;.;NFIX_HUMAN;.	S	366;366;328;324	ENSP00000380781:A366S;ENSP00000351354:A324S	ENSP00000264825:A328S	A	+	1	0	NFIX	13053511	1.000000	0.71417	0.448000	0.26945	0.969000	0.65631	4.895000	0.63214	2.755000	0.94549	0.655000	0.94253	GCA	NFIX-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000452768.1		+	ENST00000360105.4	Missense_Mutation	SNP	19 : 13192511 - 13192511 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	302	44
TLN1	7094	broad.mit.edu	37	9	35705570	35705570	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35705570G>A	ENST00000314888.9	-	43	6064	c.5711C>T	c.(5710-5712)gCg>gTg	p.A1904V	TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Intron	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1904	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGCAGCCACCGCTGCAGGCTT	0.602		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	68	71	70		5711	5.7	1	9		70	1,8599	1.2+/-3.3	0,1,4299	no	missense	TLN1	NM_006289.3	64	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	1904/2542	35705570	1,13005	2203	4300	6503	SO:0001583	missense			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076	7094	7094			11845	protein-coding gene	gene with protein product		186745		TLN	NA	7635475, 10610730	Standard	NM_006289	NM_006289	NA	Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.5711C>T	9.37:g.35705570G>A	ENSP00000316029:p.Ala1904Val	NA	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	37	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058624	0.55325	0.0	1.16E-4	ENSG00000137076	ENST00000314888	T	0.25749	1.78	5.66	5.66	0.87406	Vinculin-binding site-containing domain (1);	0.102540	0.64402	D	0.000003	T	0.26085	0.0636	L	0.49350	1.555	0.80722	D	1	B	0.28324	0.207	B	0.21917	0.037	T	0.05338	-1.0891	10	0.16420	T	0.52	-10.0954	19.7433	0.96241	0.0:0.0:1.0:0.0	.	1904	Q9Y490	TLN1_HUMAN	V	1904	ENSP00000316029:A1904V	ENSP00000316029:A1904V	A	-	2	0	TLN1	35695570	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.598000	0.82745	2.662000	0.90505	0.555000	0.69702	GCG	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052353.2		-	ENST00000314888.9	Missense_Mutation	SNP	9 : 35705570 - 35705570 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	700	136
HIST1H1A	3024	broad.mit.edu	37	6	26017371	26017371	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26017371G>T	ENST00000244573.3	-	1	669	c.590C>A	c.(589-591)gCt>gAt	p.A197D		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	197					nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						CGTCACCCTAGCCTTGGCCGC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	141	140			NA	NA	6		NA											NA				26017371		2203	4300	6503	SO:0001583	missense			AF531299	CCDS4569.1	6p22.1	2012-11-16	2006-10-11	2003-02-21	ENSG00000124610	ENSG00000124610	3024	3024		Histones / Replication-dependent	4715	protein-coding gene	gene with protein product		142709	H1 histone family, member 1, histone 1, H1a	H1F1	NA	2759094, 12408966	Standard	NM_005325	NM_005325	NA	Approved	H1.1, H1a	uc003nfo.3	Q02539	OTTHUMG00000016413	ENST00000244573.3:c.590C>A	6.37:g.26017371G>T	ENSP00000244573:p.Ala197Asp	NA	Q3MJ34	37	CCDS4569.1	.	.	.	.	.	.	.	.	.	.	N	9.614	1.131968	0.21041	.	.	ENSG00000124610	ENST00000244573	T	0.15017	2.46	4.31	0.178	0.15058	.	0.421494	0.25194	N	0.032428	T	0.04407	0.0121	L	0.34521	1.04	0.29056	N	0.884229	B	0.32245	0.361	B	0.32289	0.143	T	0.29731	-1.0002	10	0.52906	T	0.07	-0.0034	9.339	0.38067	0.3167:0.0:0.6833:0.0	.	197	Q02539	H11_HUMAN	D	197	ENSP00000244573:A197D	ENSP00000244573:A197D	A	-	2	0	HIST1H1A	26125350	0.321000	0.24625	0.001000	0.08648	0.193000	0.23685	1.411000	0.34702	-0.110000	0.12022	-0.320000	0.08662	GCT	HIST1H1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043884.1		-	ENST00000244573.3	Missense_Mutation	SNP	6 : 26017371 - 26017371 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1160	195
PABPC5	140886	broad.mit.edu	37	X	90691094	90691094	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:90691094G>A	ENST00000312600.3	+	2	732	c.518G>A	c.(517-519)cGc>cAc	p.R173H	PABPC5_ENST00000373105.1_Missense_Mutation_p.R9H	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	173	RRM 2.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CTCAACAACCGCCAGGTGTAT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	36	37			NA	NA	X		NA											NA				90691094		2203	4300	6503	SO:0001583	missense			AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740	140886	140886		RNA binding motif (RRM) containing	13629	protein-coding gene	gene with protein product		300407	poly(A)-binding protein, cytoplasmic 5		NA	11374897	Standard	NM_080832	NM_080832	NA	Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.518G>A	X.37:g.90691094G>A	ENSP00000308012:p.Arg173His	NA	A8K240|Q5JQF4|Q6P529|Q9UFE5	37	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059164	0.55325	.	.	ENSG00000174740	ENST00000373105;ENST00000312600;ENST00000402906	T;T	0.22743	1.94;2.1	4.29	4.29	0.51040	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.32823	0.0842	M	0.67569	2.06	0.58432	D	0.999999	D	0.69078	0.997	P	0.50934	0.654	T	0.15235	-1.0444	10	0.66056	D	0.02	.	13.6186	0.62123	0.0:0.0:1.0:0.0	.	173	Q96DU9	PABP5_HUMAN	H	9;173;141	ENSP00000362197:R9H;ENSP00000308012:R173H	ENSP00000308012:R173H	R	+	2	0	PABPC5	90577750	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.407000	0.80029	2.382000	0.81193	0.600000	0.82982	CGC	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057429.1		+	ENST00000312600.3	Missense_Mutation	SNP	X : 90691094 - 90691094 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	211	75
TTBK2	146057	broad.mit.edu	37	15	43067457	43067457	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43067457G>T	ENST00000267890.6	-	13	1982	c.1874C>A	c.(1873-1875)cCt>cAt	p.P625H		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	625					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		AGCAGTAGGAGGACCCTCTGC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	111	112			NA	NA	15		NA											NA				43067457		1871	4110	5981	SO:0001583	missense			AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881	146057	146057			19141	protein-coding gene	gene with protein product		611695	spinocerebellar ataxia 11	SCA11	NA	10048485	Standard	NM_173500	NM_173500	NA	Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.1874C>A	15.37:g.43067457G>T	ENSP00000267890:p.Pro625His	NA	O94932|Q6ZN52|Q8IVV1	37	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	G	7.666	0.685987	0.14973	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.37411	1.2	5.77	5.77	0.91146	.	0.411457	0.25587	N	0.029660	T	0.33962	0.0881	L	0.51422	1.61	0.80722	D	1	B;B	0.17667	0.023;0.003	B;B	0.16289	0.015;0.002	T	0.05666	-1.0871	10	0.39692	T	0.17	.	13.1575	0.59527	0.0:0.16:0.84:0.0	.	556;625	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	H	625;555;1030	ENSP00000267890:P625H	ENSP00000263802:P1030H	P	-	2	0	TTBK2	40854749	1.000000	0.71417	0.999000	0.59377	0.211000	0.24417	1.884000	0.39668	2.726000	0.93360	0.650000	0.86243	CCT	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000431106.2		-	ENST00000267890.6	Missense_Mutation	SNP	15 : 43067457 - 43067457 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	670	117
TMPRSS11D	9407	broad.mit.edu	37	4	68688070	68688070	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68688070T>C	ENST00000283916.6	-	10	1340	c.1242A>G	c.(1240-1242)caA>caG	p.Q414Q	UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Silent_p.Q297Q	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	414	Peptidase S1.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TCCCAGTTTGTTGCCTAATCC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													186	171	176			NA	NA	4		NA											NA				68688070		2203	4300	6503	SO:0001819	synonymous_variant			AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802	9407	9407		Serine peptidases / Transmembrane	24059	protein-coding gene	gene with protein product	airway trypsin like protease	605369			NA	9565616, 9070615	Standard	NM_004262	XM_005265710	NA	Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.1242A>G	4.37:g.68688070T>C		NA	Q08AF6	37	CCDS3518.1																																																																																			TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251430.3		-	ENST00000283916.6	Silent	SNP	4 : 68688070 - 68688070 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	942	172
NRBP1	29959	broad.mit.edu	37	2	27659651	27659651	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27659651G>A	ENST00000233557.3	+	9	1525	c.693G>A	c.(691-693)aaG>aaA	p.K231K	NRBP1_ENST00000379863.3_Silent_p.K239K|NRBP1_ENST00000379852.3_Silent_p.K231K			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	231	Protein kinase.				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ATCATGTGAAGACTTGTCGAG	0.498		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	2		NA											NA				27659651		2203	4300	6503	SO:0001819	synonymous_variant			AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216	29959	29959			7993	protein-coding gene	gene with protein product		606010	nuclear receptor binding protein	NRBP	NA	10843813, 11956649	Standard	NM_013392	NM_013392	NA	Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.693G>A	2.37:g.27659651G>A		NA	B3KV40|D6W558|Q53FZ5|Q96SU3	37	CCDS1753.1																																																																																			NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000215033.1		+	ENST00000233557.3	Silent	SNP	2 : 27659651 - 27659651 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	386	96
SIN3B	23309	broad.mit.edu	37	19	16977334	16977334	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16977334C>T	ENST00000379803.1	+	13	1883	c.1869C>T	c.(1867-1869)agC>agT	p.S623S	SIN3B_ENST00000595541.1_Silent_p.S181S|SIN3B_ENST00000248054.5_Silent_p.S591S	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	623					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GCTCCAAGAGCTTGCTCAACG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	97	111			NA	NA	19		NA											NA				16977334		2203	4300	6503	SO:0001819	synonymous_variant			AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21				23309	23309			19354	protein-coding gene	gene with protein product		607777	SIN3 homolog B, transcription regulator (yeast), SIN3 transcription regulator homolog B (yeast)		NA	9734811	Standard	NM_015260	XM_005259832	NA	Approved	KIAA0700	uc002ney.2	O75182		ENST00000379803.1:c.1869C>T	19.37:g.16977334C>T		NA	Q2NL91|Q68GC2|Q6P4B8|Q8TB34|Q9BSC8	37	CCDS32946.1																																																																																			SIN3B-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462848.1		+	ENST00000379803.1	Silent	SNP	19 : 16977334 - 16977334 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	503	73
HSPB11	51668	broad.mit.edu	37	1	54387388	54387388	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54387388T>G	ENST00000194214.5	-	6	760	c.371A>C	c.(370-372)gAt>gCt	p.D124A	HSPB11_ENST00000371378.2_Intron|HSPB11_ENST00000489675.1_5'UTR	NM_016126.2	NP_057210.2	Q9Y547	HSB11_HUMAN	heat shock protein family B (small), member 11	124					cell adhesion|response to stress					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	9						TGCAAAATGATCAAAGGCTGA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	111	114			NA	NA	1		NA											NA				54387388		1879	4126	6005	SO:0001583	missense			AF100747	CCDS41341.1	1p32	2014-02-21	2008-06-24	2008-06-24	ENSG00000081870	ENSG00000081870	51668	51668		Intraflagellar transport homologs, Heat shock proteins / HSPB	25019	protein-coding gene	gene with protein product	intraflagellar transport 25 homolog (Chlamydomonas)		chromosome 1 open reading frame 41	C1orf41	NA	11042152, 19253336	Standard	NM_016126	NM_016126	NA	Approved	HSPCO34, PP25, IFT25	uc001cwh.3	Q9Y547	OTTHUMG00000008408	ENST00000194214.5:c.371A>C	1.37:g.54387388T>G	ENSP00000194214:p.Asp124Ala	NA	A6NG57|D3DQ45|Q9Y684	37	CCDS41341.1	.	.	.	.	.	.	.	.	.	.	T	17.51	3.406711	0.62399	.	.	ENSG00000081870	ENST00000194214;ENST00000371378	T;T	0.81163	-1.46;-1.46	5.46	5.46	0.80206	Coagulation factor 5/8 C-terminal type domain (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.82737	0.5102	M	0.64567	1.98	0.80722	D	1	P	0.50156	0.932	P	0.51701	0.677	T	0.81915	-0.0714	10	0.35671	T	0.21	-25.3596	11.9234	0.52806	0.0:0.0:0.0:1.0	.	124	Q9Y547	HSB11_HUMAN	A	124	ENSP00000194214:D124A;ENSP00000360429:D124A	ENSP00000194214:D124A	D	-	2	0	HSPB11	54159976	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	4.426000	0.59882	2.089000	0.63090	0.533000	0.62120	GAT	HSPB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000023114.1		-	ENST00000194214.5	Missense_Mutation	SNP	1 : 54387388 - 54387388 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	406	42
TRIM35	23087	broad.mit.edu	37	8	27145212	27145212	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27145212C>T	ENST00000305364.4	-	6	1420	c.1337G>A	c.(1336-1338)cGc>cAc	p.R446H		NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	446	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GTGGCAGTGGCGCTCCGCGTC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			AB029021	CCDS6056.2	8p21.2	2013-01-09	2011-01-25		ENSG00000104228	ENSG00000104228	23087	23087		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	16285	protein-coding gene	gene with protein product			tripartite motif-containing 35		NA	11331580, 14662771, 12692137	Standard	NM_171982	XM_005273451	NA	Approved	KIAA1098, MAIR, HLS5	uc003xfl.1	Q9UPQ4	OTTHUMG00000102047	ENST00000305364.4:c.1337G>A	8.37:g.27145212C>T	ENSP00000301924:p.Arg446His	NA	Q86XQ0|Q8WVA4	37	CCDS6056.2	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527742	0.44969	.	.	ENSG00000104228	ENST00000305364;ENST00000380544	T	0.61392	0.11	5.23	3.45	0.39498	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.338941	0.29572	N	0.011771	T	0.48537	0.1505	L	0.48986	1.54	0.21627	N	0.999612	B	0.06786	0.001	B	0.06405	0.002	T	0.47142	-0.9140	10	0.66056	D	0.02	.	7.9606	0.30068	0.0:0.8115:0.0:0.1885	.	446	Q9UPQ4	TRI35_HUMAN	H	446	ENSP00000301924:R446H	ENSP00000301924:R446H	R	-	2	0	TRIM35	27201129	0.000000	0.05858	0.854000	0.33618	0.525000	0.34531	0.002000	0.13061	0.607000	0.29982	0.462000	0.41574	CGC	TRIM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219848.2		-	ENST00000305364.4	Missense_Mutation	SNP	8 : 27145212 - 27145212 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	81	17
PDCD6IP	10015	broad.mit.edu	37	3	33885712	33885712	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33885712G>T	ENST00000307296.3	+	11	1845	c.1468G>T	c.(1468-1470)Gca>Tca	p.A490S	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.A495S			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	490	Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						GCCTTTAAGAGCAGGTAAAAA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	58	58			NA	NA	3		NA											NA				33885712		2203	4299	6502	SO:0001583	missense			BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248	10015	10015			8766	protein-coding gene	gene with protein product	ALG-2 interacting protein X	608074	programmed cell death 6-interacting protein		NA	9880530	Standard		NM_001162429	NA	Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.1468G>T	3.37:g.33885712G>T	ENSP00000307387:p.Ala490Ser	NA	Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	37	CCDS2660.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.550891	0.27739	.	.	ENSG00000170248	ENST00000307296;ENST00000457054	T;T	0.28069	1.63;1.63	5.27	4.4	0.53042	.	0.369300	0.31949	N	0.006801	T	0.15305	0.0369	N	0.20766	0.605	0.48632	D	0.999686	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.14578	0.009;0.011;0.005	T	0.07654	-1.0761	10	0.07644	T	0.81	-6.8926	6.2042	0.20593	0.1533:0.0:0.6964:0.1503	.	271;495;490	B7Z5C1;E9PFU1;Q8WUM4	.;.;PDC6I_HUMAN	S	490;495	ENSP00000307387:A490S;ENSP00000411825:A495S	ENSP00000307387:A490S	A	+	1	0	PDCD6IP	33860716	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.287000	0.43505	1.238000	0.43771	-0.259000	0.10710	GCA	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253251.2		+	ENST00000307296.3	Missense_Mutation	SNP	3 : 33885712 - 33885712 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	312	64
KCNK3	3777	broad.mit.edu	37	2	26951339	26951339	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26951339G>A	ENST00000302909.3	+	2	1213	c.1088G>A	c.(1087-1089)tGc>tAc	p.C363Y		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	363					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCTGCCTGTGCAGCGGGGCG	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(80;1457 1631 27100 45946)							NA				0													11	10	10			NA	NA	2		NA											NA				26951339		2179	4255	6434	SO:0001583	missense			AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303	3777	3777		Potassium channels, Voltage-gated ion channels / Potassium channels, Two-P	6278	protein-coding gene	gene with protein product		603220			NA	9312005, 9721223, 16382106	Standard	NM_002246	NM_002246	NA	Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.1088G>A	2.37:g.26951339G>A	ENSP00000306275:p.Cys363Tyr	NA	Q53SU2	37	CCDS1727.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.202469	0.58234	.	.	ENSG00000171303	ENST00000538762;ENST00000302909	T	0.22134	1.97	3.35	3.35	0.38373	.	1.338500	0.04478	N	0.377265	T	0.34571	0.0902	L	0.55481	1.735	0.51482	D	0.999926	D	0.69078	0.997	P	0.60682	0.878	T	0.54289	-0.8316	10	0.02654	T	1	.	10.5589	0.45133	0.0:0.0:1.0:0.0	.	363	O14649	KCNK3_HUMAN	Y	240;363	ENSP00000306275:C363Y	ENSP00000306275:C363Y	C	+	2	0	KCNK3	26804843	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.760000	0.62235	2.198000	0.70561	0.555000	0.69702	TGC	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000246861.2		+	ENST00000302909.3	Missense_Mutation	SNP	2 : 26951339 - 26951339 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	58	15
HAPLN3	145864	broad.mit.edu	37	15	89424833	89424833	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89424833C>T	ENST00000562889.1	-	4	572	c.434G>A	c.(433-435)cGt>cAt	p.R145H	HAPLN3_ENST00000359595.3_Missense_Mutation_p.R83H			Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	83	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					GACACGCACACGCCGCGGGGA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	70	71			NA	NA	15		NA											NA				89424833		2200	4299	6499	SO:0001583	missense			AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511	145864	145864		Immunoglobulin superfamily / V-set domain containing	21446	protein-coding gene	gene with protein product			extracellular link domain containing, 1	EXLD1	NA	12663660	Standard	NM_178232	NM_178232	NA	Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000562889.1:c.434G>A	15.37:g.89424833C>T	ENSP00000457180:p.Arg145His	NA	A8K7P0	37		.	.	.	.	.	.	.	.	.	.	C	4.290	0.052971	0.08291	.	.	ENSG00000140511	ENST00000359595	T	0.64991	-0.13	4.22	1.13	0.20643	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.478425	0.18864	N	0.129039	T	0.38692	0.1050	N	0.11927	0.2	0.09310	N	1	B;B	0.22983	0.078;0.078	B;B	0.21546	0.035;0.035	T	0.19484	-1.0304	10	0.37606	T	0.19	-2.6237	7.3451	0.26658	0.0:0.2601:0.2903:0.4496	.	83;83	A8K7T8;Q96S86	.;HPLN3_HUMAN	H	83	ENSP00000352606:R83H	ENSP00000352606:R83H	R	-	2	0	HAPLN3	87225837	0.540000	0.26410	0.013000	0.15412	0.006000	0.05464	0.918000	0.28678	-0.072000	0.12864	-0.823000	0.03104	CGT	HAPLN3-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000415570.2		-	ENST00000562889.1	Missense_Mutation	SNP	15 : 89424833 - 89424833 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	696	123
KIF4B	285643	broad.mit.edu	37	5	154393593	154393593	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154393593T>C	ENST00000435029.4	+	1	334	c.174T>C	c.(172-174)tgT>tgC	p.C58C		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	58	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTGACCCCTGTACTGAGCAGG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	98	99			NA	NA	5		NA											NA				154393593		2203	4300	6503	SO:0001819	synonymous_variant			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650	285643	285643		Kinesins	6322	protein-coding gene	gene with protein product		609184			NA		Standard		NM_001099293	NA	Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.174T>C	5.37:g.154393593T>C		NA		37	CCDS47324.1																																																																																			KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377478.1		+	ENST00000435029.4	Silent	SNP	5 : 154393593 - 154393593 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	65
PNPLA7	375775	broad.mit.edu	37	9	140437993	140437993	+	Missense_Mutation	SNP	G	G	T	rs146033561		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140437993G>T	ENST00000277531.4	-	5	508	c.322C>A	c.(322-324)Ctg>Atg	p.L108M	PNPLA7_ENST00000406427.1_Missense_Mutation_p.L133M	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	108					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TTGGGCTGCAGGGCCGGGTAT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	46	44			NA	NA	9		NA											NA				140437993		2203	4300	6503	SO:0001583	missense			AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653	375775	375775		Patatin-like phospholipase domain containing	24768	protein-coding gene	gene with protein product		612122	chromosome 9 open reading frame 111	C9orf111	NA	16799181, 12640454, 19029121	Standard	NM_152286	XM_005266082	NA	Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.322C>A	9.37:g.140437993G>T	ENSP00000277531:p.Leu108Met	NA	B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	37	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.519916	0.64634	.	.	ENSG00000130653	ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090;ENST00000371450	T;T;T	0.64438	-0.09;-0.1;-0.08	4.19	0.496	0.16896	.	0.084717	0.49916	D	0.000137	T	0.72415	0.3457	M	0.72118	2.19	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.73380	0.978;0.98	T	0.70769	-0.4782	10	0.66056	D	0.02	-17.7145	8.5224	0.33285	0.3393:0.0:0.6607:0.0	.	133;108	Q6ZV29-5;Q6ZV29	.;PLPL7_HUMAN	M	108;133;108;99;133	ENSP00000277531:L108M;ENSP00000384610:L133M;ENSP00000400582:L99M	ENSP00000277531:L108M	L	-	1	2	PNPLA7	139557814	1.000000	0.71417	0.843000	0.33291	0.982000	0.71751	2.622000	0.46427	0.135000	0.18707	0.563000	0.77884	CTG	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254787.1		-	ENST00000277531.4	Missense_Mutation	SNP	9 : 140437993 - 140437993 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	55
C2CD3	26005	broad.mit.edu	37	11	73814473	73814473	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73814473C>A	ENST00000313663.7	-	14	2509	c.2283G>T	c.(2281-2283)caG>caT	p.Q761H	C2CD3_ENST00000334126.7_Missense_Mutation_p.Q761H	NM_015531.4	NP_056346.3	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	761						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GCACCAAGTTCTGTGCTTTCT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													206	207	207			NA	NA	11		NA											NA				73814473		2200	4293	6493	SO:0001583	missense			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014	26005	26005			24564	protein-coding gene	gene with protein product		615944			NA		Standard	NM_015531	XM_005273897	NA	Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000313663.7:c.2283G>T	11.37:g.73814473C>A	ENSP00000323339:p.Gln761His	NA	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	37	CCDS31636.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077006	0.36662	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.11169	2.8;2.83	5.81	2.59	0.31030	.	0.837535	0.11047	N	0.605427	T	0.24470	0.0593	M	0.64997	1.995	0.09310	N	1	D	0.76494	0.999	D	0.69479	0.964	T	0.07731	-1.0757	10	0.66056	D	0.02	-0.3047	5.2091	0.15307	0.0:0.5886:0.1741:0.2374	.	761	Q4AC94-1	.	H	761	ENSP00000334379:Q761H;ENSP00000323339:Q761H	ENSP00000323339:Q761H	Q	-	3	2	C2CD3	73492121	0.981000	0.34729	0.078000	0.20375	0.089000	0.18198	1.026000	0.30103	1.457000	0.47850	0.650000	0.86243	CAG	C2CD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398210.1		-	ENST00000313663.7	Missense_Mutation	SNP	11 : 73814473 - 73814473 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	470	82
PCBP2	5094	broad.mit.edu	37	12	53873226	53873226	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53873226G>A	ENST00000455667.3	+	12	1021	c.957G>A	c.(955-957)taG>taA	p.*319*	PCBP2_ENST00000552296.2_Silent_p.*362*|PCBP2_ENST00000437231.1_Silent_p.*319*|PCBP2_ENST00000548933.1_Silent_p.*336*|PCBP2_ENST00000359462.5_Silent_p.*367*|PCBP2_ENST00000546463.1_Silent_p.*363*|PCBP2_ENST00000552819.1_Silent_p.*323*|PCBP2_ENST00000439930.3_Silent_p.*366*|PCBP2_ENST00000359282.5_Silent_p.*332*|PCBP2_ENST00000603815.1_Silent_p.*366*|PCBP2_ENST00000447282.1_Silent_p.*336*|PCBP2_ENST00000549863.1_Silent_p.*322*			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	0	KH 3.				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						GGAGCAGCTAGAACAATGCAG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	127	135			NA	NA	12		NA											NA				53873226		2203	4300	6503	SO:0001819	synonymous_variant			BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111	5094	5094			8648	protein-coding gene	gene with protein product	heterogenous nuclear ribonucleoprotein E2	601210	poly(rC)-binding protein 2		NA	8833161	Standard	NM_005016	NM_001098620	NA	Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000455667.3:c.957G>A	12.37:g.53873226G>A		NA	Q6PKG5	37	CCDS44904.1																																																																																			PCBP2-006	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404035.4		+	ENST00000455667.3	Silent	SNP	12 : 53873226 - 53873226 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	211	46
DDX5	1655	broad.mit.edu	37	17	62499117	62499117	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62499117C>A	ENST00000578804.1	-	8	1076	c.910G>T	c.(910-912)Gca>Tca	p.A304S	DDX5_ENST00000225792.5_Missense_Mutation_p.A304S|DDX5_ENST00000450599.2_Missense_Mutation_p.A225S			P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	304					cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			AGTTCAAGTGCACCAATGTTT	0.373		NA	T	ETV4	prostate									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(22;406 813 4871 19580 40307)		Dom	yes		17	17q21	1655	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5		E	0													132	128	129			NA	NA	17		NA											NA				62499117		2203	4300	6503	SO:0001583	missense			AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654	1655	1655		DEAD-boxes	2746	protein-coding gene	gene with protein product		180630	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD), DEAD (Asp-Glu-Ala-Asp) box polypeptide 5	HLR1, G17P1	NA	22156369, 18698352	Standard	NM_004396	NM_004396	NA	Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000578804.1:c.910G>T	17.37:g.62499117C>A	ENSP00000462885:p.Ala304Ser	NA	B5BU21|D3DU32|O75681|Q53Y61	37		.	.	.	.	.	.	.	.	.	.	C	16.64	3.178353	0.57692	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	.	.	.	5.91	5.91	0.95273	DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	T	0.31606	0.0802	N	0.01874	-0.695	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.13407	0.009;0.002;0.002;0.002	T	0.41592	-0.9500	9	0.02654	T	1	-10.9695	20.2985	0.98592	0.0:1.0:0.0:0.0	.	225;304;293;304	B4DLW8;B5BUE6;B4DN41;P17844	.;.;.;DDX5_HUMAN	S	304;234;293	.	ENSP00000225792:A293S	A	-	1	0	DDX5	59929579	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.300000	0.78841	2.793000	0.96121	0.655000	0.94253	GCA	DDX5-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000444032.1		-	ENST00000578804.1	Missense_Mutation	SNP	17 : 62499117 - 62499117 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	657	127
CD86	942	broad.mit.edu	37	3	121810499	121810499	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121810499T>C	ENST00000330540.2	+	2	180		c.e2+2		CD86_ENST00000264468.5_Splice_Site|CD86_ENST00000493101.1_Splice_Site|CD86_ENST00000469710.1_Intron|CD86_ENST00000393627.2_Splice_Site|CD86_ENST00000483949.1_3'UTR	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	NA					interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TGCTCTCTGGTAAGAACCTTT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(67;1379 1389 36064 39806)							NA				0													281	268	273			NA	NA	3		NA											NA				121810499		2203	4300	6503	SO:0001630	splice_region_variant				CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013	942	942		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	1705	protein-coding gene	gene with protein product	B-lymphocyte antigen B7-2	601020	CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)	CD28LG2	NA	7513726	Standard	NM_006889	NM_006889	NA	Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.64+2T>C	3.37:g.121810499T>C		NA	A0N0P0|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	37	CCDS3009.1	.	.	.	.	.	.	.	.	.	.	T	8.352	0.831086	0.16820	.	.	ENSG00000114013	ENST00000493101;ENST00000330540;ENST00000264468;ENST00000482356;ENST00000393627;ENST00000478741	.	.	.	4.42	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3554	0.43960	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD86	123293189	1.000000	0.71417	1.000000	0.80357	0.190000	0.23558	3.066000	0.50002	2.216000	0.71823	0.533000	0.62120	.	CD86-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355671.1	Intron	+	ENST00000330540.2	Splice_Site	SNP	3 : 121810499 - 121810499 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1336	299
SCN4A	6329	broad.mit.edu	37	17	62045589	62045589	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62045589C>A	ENST00000578147.1	-	6	906	c.830G>T	c.(829-831)aGg>aTg	p.R277M	SCN4A_ENST00000435607.1_Missense_Mutation_p.R277M			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	277					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	ACACTTCTGCCTCAGGTTTCC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	137	135			NA	NA	17		NA											NA				62045589		2179	4283	6462	SO:0001583	missense			U24693		17q23.3	2012-02-26	2007-01-23				6329	6329		Sodium channels, Voltage-gated ion channels / Sodium channels	10591	protein-coding gene	gene with protein product		603967		HYKPP	NA	1654742, 1659948, 16382098	Standard	NM_000334	XM_005257566	NA	Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000578147.1:c.830G>T	17.37:g.62045589C>A	ENSP00000463963:p.Arg277Met	NA	Q15478|Q16447|Q7Z6B1	37		.	.	.	.	.	.	.	.	.	.	C	24.7	4.562933	0.86335	.	.	ENSG00000007314	ENST00000435607	D	0.98732	-5.1	5.21	5.21	0.72293	Ion transport (1);	0.055852	0.64402	D	0.000002	D	0.99354	0.9773	M	0.93720	3.45	0.49687	D	0.999815	D	0.89917	1.0	D	0.79108	0.992	D	0.98850	1.0758	10	0.54805	T	0.06	.	17.9347	0.89009	0.0:1.0:0.0:0.0	.	277	P35499	SCN4A_HUMAN	M	277	ENSP00000396320:R277M	ENSP00000396320:R277M	R	-	2	0	SCN4A	59399321	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.651000	0.83577	2.717000	0.92951	0.655000	0.94253	AGG	SCN4A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000444562.1		-	ENST00000578147.1	Missense_Mutation	SNP	17 : 62045589 - 62045589 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	522	112
NLGN2	57555	broad.mit.edu	37	17	7318933	7318933	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7318933G>A	ENST00000302926.2	+	6	1214	c.1141G>A	c.(1141-1143)Ggc>Agc	p.G381S	NLGN2_ENST00000575301.1_Missense_Mutation_p.G381S	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	381					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CATGCTCATCGGCGTCAACCA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													202	157	172			NA	NA	17		NA											NA				7318933		2203	4300	6503	SO:0001583	missense			AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992	57555	57555			14290	protein-coding gene	gene with protein product		606479			NA	10767552, 10819331	Standard	NM_020795	NM_020795	NA	Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.1141G>A	17.37:g.7318933G>A	ENSP00000305288:p.Gly381Ser	NA	Q9P2I1	37	CCDS11103.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948818	0.92660	.	.	ENSG00000169992	ENST00000302926	D	0.86030	-2.06	5.41	5.41	0.78517	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	D	0.93485	0.7921	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94163	0.7416	10	0.87932	D	0	.	16.7464	0.85473	0.0:0.0:1.0:0.0	.	381	Q8NFZ4	NLGN2_HUMAN	S	381	ENSP00000305288:G381S	ENSP00000305288:G381S	G	+	1	0	NLGN2	7259657	1.000000	0.71417	0.928000	0.36995	0.911000	0.54048	9.507000	0.97996	2.826000	0.97356	0.561000	0.74099	GGC	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226941.2		+	ENST00000302926.2	Missense_Mutation	SNP	17 : 7318933 - 7318933 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	834	141
BAG3	9531	broad.mit.edu	37	10	121429651	121429651	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121429651G>A	ENST00000369085.3	+	2	775	c.469G>A	c.(469-471)Gcg>Acg	p.A157T		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	157					anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GGTGGCAGCGGCGGCGGCAGC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	30	28			NA	NA	10		NA											NA				121429651		2189	4275	6464	SO:0001583	missense			AF095193	CCDS7615.1	10q25.2-q26.2	2014-09-17			ENSG00000151929	ENSG00000151929	9531	9531			939	protein-coding gene	gene with protein product		603883			NA	9873016, 18094623	Standard	NM_004281	XM_005270287	NA	Approved		uc001lem.3	O95817	OTTHUMG00000019155	ENST00000369085.3:c.469G>A	10.37:g.121429651G>A	ENSP00000358081:p.Ala157Thr	NA	A8K5L8|Q3B763|Q9NT20|Q9P120	37	CCDS7615.1	.	.	.	.	.	.	.	.	.	.	G	9.183	1.024051	0.19433	.	.	ENSG00000151929	ENST00000369085;ENST00000450186	T;T	0.74737	-0.83;-0.87	5.28	4.36	0.52297	.	0.414011	0.28290	N	0.015893	T	0.66713	0.2817	L	0.53249	1.67	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.12837	0.008;0.008	T	0.55108	-0.8192	10	0.30854	T	0.27	-2.4151	9.2785	0.37714	0.0737:0.0:0.7831:0.1432	.	157;157	O95817;Q53GY1	BAG3_HUMAN;.	T	157;99	ENSP00000358081:A157T;ENSP00000410036:A99T	ENSP00000358081:A157T	A	+	1	0	BAG3	121419641	1.000000	0.71417	0.016000	0.15963	0.045000	0.14185	3.823000	0.55715	1.195000	0.43115	0.561000	0.74099	GCG	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050662.1		+	ENST00000369085.3	Missense_Mutation	SNP	10 : 121429651 - 121429651 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	432	68
PDE4DIP	9659	broad.mit.edu	37	1	144863415	144863415	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144863415C>T	ENST00000530740.1	-	39	6281	c.6243G>A	c.(6241-6243)caG>caA	p.Q2081Q	PDE4DIP_ENST00000369356.4_Silent_p.Q1996Q|PDE4DIP_ENST00000369354.3_Silent_p.Q1996Q|PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000313382.9_Silent_p.Q1890Q|PDE4DIP_ENST00000369359.4_Silent_p.Q2132Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1996					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CACACTGTTGCTGCAGGAGAA	0.532		NA	T	PDGFRB	MPD									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													185	176	179			NA	NA	1		NA											NA				144863415		2203	4300	6503	SO:0001819	synonymous_variant			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104	9659	9659			15580	protein-coding gene	gene with protein product	myomegalin	608117	cardiomyopathy associated 2	CMYA2	NA	9455484, 11134006	Standard	NM_022359	NM_022359	NA	Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000530740.1:c.6243G>A	1.37:g.144863415C>T		NA	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	37		.	.	.	.	.	.	.	.	.	.	C	9.443	1.088585	0.20390	.	.	ENSG00000178104	ENST00000530130	.	.	.	4.83	2.92	0.33932	.	.	.	.	.	T	0.44138	0.1279	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35051	-0.9804	4	.	.	.	.	8.6048	0.33767	0.0:0.8033:0.0:0.1967	.	.	.	.	N	153	.	.	S	-	2	0	PDE4DIP	143574772	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.648000	0.37271	0.542000	0.28846	0.484000	0.47621	AGC	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000384663.2		-	ENST00000530740.1	Silent	SNP	1 : 144863415 - 144863415 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	961	78
TTN	7273	broad.mit.edu	37	2	179446443	179446443	+	Silent	SNP	G	G	A	rs146502705	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179446443G>A	ENST00000589042.1	-	316	66776	c.66552C>T	c.(66550-66552)ggC>ggT	p.G22184G	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Silent_p.G20543G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.G13244G|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.G13119G|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.G19616G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.G13311G|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20543							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGGGCTGCCGCCGTCATAGG	0.493		NA											G	1	5e-04	0.002	NA	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	4e-04	0.8551	LOWCOV	NA	NA	0.0012	SNP								NA				0													26	27	27			NA	NA	2		NA											NA				179446443		1894	4107	6001	SO:0001819	synonymous_variant			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.66552C>T	2.37:g.179446443G>A		NA	E7ET18	37	CCDS59435.1																																																																																			TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Silent	SNP	2 : 179446443 - 179446443 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	83	21
PTPN23	25930	broad.mit.edu	37	3	47451949	47451949	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47451949C>A	ENST00000265562.4	+	20	2738	c.2661C>A	c.(2659-2661)atC>atA	p.I887I	PTPN23_ENST00000431726.1_Silent_p.I761I	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	887	His.|Pro-rich.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TAGATAGCATCCAGGCGCCCA	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	25	24			NA	NA	3		NA											NA				47451949		2202	4297	6499	SO:0001819	synonymous_variant			AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201	25930	25930		Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor	14406	protein-coding gene	gene with protein product		606584			NA	11095967	Standard	NM_015466	NM_015466	NA	Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.2661C>A	3.37:g.47451949C>A		NA	A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	37	CCDS2754.1																																																																																			PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257492.2		+	ENST00000265562.4	Silent	SNP	3 : 47451949 - 47451949 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	155	21
MAGEC1	9947	broad.mit.edu	37	X	140994195	140994195	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140994195G>T	ENST00000285879.4	+	4	1291	c.1005G>T	c.(1003-1005)caG>caT	p.Q335H	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	335							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GTTTTCCCCAGTCTCTTCTCC	0.458		NA								HNSCC(15;0.026)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	121	120			NA	NA	X		NA											NA				140994195		2202	4296	6498	SO:0001583	missense			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495	9947	9947			6812	protein-coding gene	gene with protein product	cancer/testis antigen family 7, member 1	300223			NA	9485030, 9618514	Standard	NM_005462	NM_005462	NA	Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1005G>T	X.37:g.140994195G>T	ENSP00000285879:p.Gln335His	NA	O75451|Q8TCV4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	1.900	-0.453329	0.04540	.	.	ENSG00000155495	ENST00000285879	T	0.02236	4.38	.	.	.	.	.	.	.	.	T	0.01156	0.0038	N	0.08118	0	0.40806	D	0.983384	P	0.50156	0.932	B	0.37144	0.242	T	0.67684	-0.5607	8	0.87932	D	0	.	5.9409	0.19192	6.0E-4:0.0:0.9994:0.0	.	335	O60732	MAGC1_HUMAN	H	335	ENSP00000285879:Q335H	ENSP00000285879:Q335H	Q	+	3	2	MAGEC1	140821861	0.347000	0.24853	0.136000	0.22124	0.136000	0.21042	1.465000	0.35299	0.148000	0.19059	0.150000	0.16122	CAG	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058604.1		+	ENST00000285879.4	Missense_Mutation	SNP	X : 140994195 - 140994195 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	993	294
SPATA9	83890	broad.mit.edu	37	5	95011277	95011277	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95011277C>T	ENST00000274432.8	-	3	358	c.217G>A	c.(217-219)Gca>Aca	p.A73T	SPATA9_ENST00000395899.3_Missense_Mutation_p.A73T|RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000477047.2_5'UTR	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	73					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		ATTAATGTTGCTCGATTAATC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													195	166	176			NA	NA	5		NA											NA				95011277		2203	4300	6503	SO:0001583	missense			AK093225	CCDS4076.1	5q15	2008-02-05			ENSG00000145757	ENSG00000145757	83890	83890			22988	protein-coding gene	gene with protein product		608039			NA	12493713	Standard	NM_031952	NM_031952	NA	Approved	NYD-SP16, FLJ35906	uc003klj.1	Q9BWV2	OTTHUMG00000121169	ENST00000274432.8:c.217G>A	5.37:g.95011277C>T	ENSP00000274432:p.Ala73Thr	NA	A8K8H3|Q4G122|Q86X33|Q8NA28	37	CCDS4076.1	.	.	.	.	.	.	.	.	.	.	C	0.195	-1.049475	0.01981	.	.	ENSG00000145757	ENST00000274432;ENST00000395899	T	0.45668	0.89	4.91	-1.22	0.09494	.	0.750081	0.12247	N	0.486018	T	0.17323	0.0416	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.16289	0.015	T	0.14868	-1.0457	10	0.29301	T	0.29	-2.4842	2.8354	0.05513	0.1166:0.4832:0.1141:0.286	.	73	Q9BWV2	SPAT9_HUMAN	T	73	ENSP00000274432:A73T	ENSP00000274432:A73T	A	-	1	0	SPATA9	95037033	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.809000	0.27168	-0.645000	0.05458	-2.879000	0.00098	GCA	SPATA9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000304036.1		-	ENST00000274432.8	Missense_Mutation	SNP	5 : 95011277 - 95011277 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	352	61
PLEC	5339	broad.mit.edu	37	8	145007511	145007511	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145007511C>A	ENST00000322810.4	-	13	1852	c.1683G>T	c.(1681-1683)cgG>cgT	p.R561R	PLEC_ENST00000356346.3_Silent_p.R410R|PLEC_ENST00000436759.2_Silent_p.R451R|PLEC_ENST00000357649.2_Silent_p.R428R|PLEC_ENST00000354958.2_Silent_p.R402R|PLEC_ENST00000345136.3_Silent_p.R424R|PLEC_ENST00000398774.2_Silent_p.R392R|PLEC_ENST00000354589.3_Silent_p.R424R|PLEC_ENST00000527096.1_Silent_p.R447R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	561	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CAGCCAGCAGCCGGACATCCT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	67	65			NA	NA	8		NA											NA				145007511		2126	4232	6358	SO:0001819	synonymous_variant			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209	5339	5339			9069	protein-coding gene	gene with protein product		601282	plectin 1, intermediate filament binding protein, 500kD, epidermolysis bullosa simplex 1 (Ogna), plectin 1, intermediate filament binding protein 500kDa	EBS1, PLEC1	NA	8633055, 8696340	Standard	NM_000445	XM_005250976	NA	Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.1683G>T	8.37:g.145007511C>A		NA	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	37	CCDS43772.1																																																																																			PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383281.1		-	ENST00000322810.4	Silent	SNP	8 : 145007511 - 145007511 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	74
GANAB	23193	broad.mit.edu	37	11	62393376	62393376	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62393376A>G	ENST00000346178.4	-	25	2827	c.2812T>C	c.(2812-2814)Tcc>Ccc	p.S938P	GANAB_ENST00000534779.1_Missense_Mutation_p.S824P|GANAB_ENST00000540933.1_Missense_Mutation_p.S819P|GANAB_ENST00000356638.3_Missense_Mutation_p.S916P	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	916					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TGCTGGAAGGACAGGCGGCTT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(23;1005 1074 15747 18937)							NA				0													94	90	91			NA	NA	11		NA											NA				62393376		2202	4299	6501	SO:0001583	missense			AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	23193	23193	3.2.1.20		4138	protein-coding gene	gene with protein product		104160			NA	10764838, 6342981	Standard	NM_198334	NM_198335	NA	Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000346178.4:c.2812T>C	11.37:g.62393376A>G	ENSP00000340466:p.Ser938Pro	NA	A6NC20|Q8WTS9|Q9P0X0	37	CCDS41656.1	.	.	.	.	.	.	.	.	.	.	A	11.80	1.746685	0.30955	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.88896	-2.38;-2.33;-2.44;-2.38	4.84	0.998	0.19857	.	0.571109	0.17907	N	0.157987	T	0.77705	0.4170	N	0.16790	0.44	0.29699	N	0.84028	B;B;B;B	0.23249	0.082;0.082;0.0;0.0	B;B;B;B	0.27262	0.078;0.078;0.002;0.001	T	0.70185	-0.4941	10	0.48119	T	0.1	-5.0023	6.0398	0.19728	0.3491:0.489:0.0:0.162	.	802;824;916;938	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	P	938;916;824;819	ENSP00000340466:S938P;ENSP00000349053:S916P;ENSP00000435306:S824P;ENSP00000442962:S819P	ENSP00000340466:S938P	S	-	1	0	GANAB	62149952	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	1.455000	0.35190	0.693000	0.31634	0.459000	0.35465	TCC	GANAB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395688.2		-	ENST00000346178.4	Missense_Mutation	SNP	11 : 62393376 - 62393376 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	37
BSX	390259	broad.mit.edu	37	11	122848527	122848527	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122848527C>A	ENST00000343035.2	-	3	580	c.532G>T	c.(532-534)Gca>Tca	p.A178S		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	178										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CCGTCTGGTGCTTTGGGTTCG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	60	59			NA	NA	11		NA											NA				122848527		1889	4117	6006	SO:0001583	missense				CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909	390259	390259		Homeoboxes / ANTP class : NKL subclass	20450	protein-coding gene	gene with protein product		611074			NA		Standard	NM_001098169	NM_001098169	NA	Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.532G>T	11.37:g.122848527C>A	ENSP00000344285:p.Ala178Ser	NA		37	CCDS41728.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.385453	0.25031	.	.	ENSG00000188909	ENST00000343035	D	0.92805	-3.11	5.4	5.4	0.78164	Homeodomain-like (1);	0.297348	0.35739	N	0.003004	T	0.81588	0.4854	N	0.14661	0.345	0.26143	N	0.980247	B	0.09022	0.002	B	0.09377	0.004	T	0.63585	-0.6604	10	0.07482	T	0.82	.	9.9018	0.41353	0.0:0.8441:0.0:0.1559	.	178	Q3C1V8	BSH_HUMAN	S	178	ENSP00000344285:A178S	ENSP00000344285:A178S	A	-	1	0	BSX	122353737	0.693000	0.27728	0.989000	0.46669	0.367000	0.29736	1.139000	0.31504	2.516000	0.84829	0.561000	0.74099	GCA	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317076.1		-	ENST00000343035.2	Missense_Mutation	SNP	11 : 122848527 - 122848527 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	64
PRSS16	10279	broad.mit.edu	37	6	27218821	27218821	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27218821T>C	ENST00000230582.3	+	6	607	c.592T>C	c.(592-594)Ttc>Ctc	p.F198L	PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	198					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCTCCCTTAGTTCCCCCATCT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(178;1118 2105 17078 23587 44429)							NA				0													64	71	69			NA	NA	6		NA											NA				27218821		2203	4300	6503	SO:0001630	splice_region_variant			AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812	10279	10279		Serine peptidases / Serine peptidases	9480	protein-coding gene	gene with protein product		607169			NA	10527559	Standard		NM_005865	NA	Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.592-1T>C	6.37:g.27218821T>C		NA	O75416	37	CCDS4623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.8|22.8	4.343518|4.343518	0.82022|0.82022	.|.	.|.	ENSG00000112812|ENSG00000112812	ENST00000230582;ENST00000343467|ENST00000475106	T|.	0.16897|.	2.31|.	3.87|3.87	3.87|3.87	0.44632|0.44632	.|.	0.163731|.	0.53938|.	D|.	0.000042|.	T|T	0.71005|0.71005	0.3289|0.3289	M|M	0.88979|0.88979	2.995|2.995	0.47862|0.47862	D|D	0.999538|0.999538	D;P|.	0.57257|.	0.979;0.587|.	D;B|.	0.71414|.	0.973;0.333|.	T|T	0.75714|0.75714	-0.3221|-0.3221	9|5	.|.	.|.	.|.	-12.8934|-12.8934	9.3482|9.3482	0.38122|0.38122	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	198;198|.	C9JI59;Q9NQE7|.	.;TSSP_HUMAN|.	L|A	198|89	ENSP00000230582:F198L|.	.|.	F|V	+|+	1|2	0|0	PRSS16|PRSS16	27326800|27326800	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.713000|0.713000	0.41058|0.41058	1.194000|1.194000	0.32174|0.32174	1.987000|1.987000	0.57996|0.57996	0.460000|0.460000	0.39030|0.39030	TTC|GTT	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043418.2	Missense_Mutation	+	ENST00000230582.3	Splice_Site	SNP	6 : 27218821 - 27218821 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	643	100
DSTYK	25778	broad.mit.edu	37	1	205156672	205156672	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205156672C>T	ENST00000367162.3	-	2	558	c.528G>A	c.(526-528)acG>acA	p.T176T	DSTYK_ENST00000367161.3_Silent_p.T176T|DSTYK_ENST00000367160.4_Silent_p.T176T	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	176						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T176T(1)		breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						GAGCAACCAGCGTGTGCACTA	0.572		NA												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)						C	,	0,4406		0,0,2203	88	66	74		528,528	-7.5	0.9	1		74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DSTYK	NM_015375.2,NM_199462.2	,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,	176/930,176/885	205156672	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059	25778	25778			29043	protein-coding gene	gene with protein product		612666	receptor interacting protein kinase 5	RIPK5	NA	15178406	Standard	NM_015375	NM_015375	NA	Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.528G>A	1.37:g.205156672C>T		NA	B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	37	CCDS1451.1																																																																																			DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090345.1		-	ENST00000367162.3	Silent	SNP	1 : 205156672 - 205156672 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	304	77
ETHE1	23474	broad.mit.edu	37	19	44015646	44015646	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44015646C>T	ENST00000600651.1	-	4	471	c.448G>A	c.(448-450)Gcc>Acc	p.A150T	ETHE1_ENST00000292147.2_Missense_Mutation_p.A150T			O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	150						mitochondrial matrix|nucleus	hydrolase activity|metal ion binding			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				CCAGTGAAGGCCATGCTGTGG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	76	85			NA	NA	19		NA											NA				44015646		2203	4300	6503	SO:0001583	missense				CCDS12622.1	19q13.32	2014-06-20				ENSG00000105755	23474	23474	1.13.11.18		23287	protein-coding gene	gene with protein product		608451			NA	19136963	Standard	NM_014297	NM_014297	NA	Approved	YF13H12, HSCO	uc002owp.3	O95571		ENST00000600651.1:c.448G>A	19.37:g.44015646C>T	ENSP00000469037:p.Ala150Thr	NA	Q96HR0|Q9H001	37		.	.	.	.	.	.	.	.	.	.	C	34	5.400492	0.96030	.	.	ENSG00000105755	ENST00000292147	T	0.80824	-1.42	5.04	5.04	0.67666	Beta-lactamase-like (2);	0.056346	0.64402	D	0.000002	D	0.92476	0.7611	H	0.95470	3.675	0.58432	D	0.999999	D;D	0.76494	0.992;0.999	P;D	0.72075	0.823;0.976	D	0.93924	0.7208	10	0.62326	D	0.03	-1.0203	16.3468	0.83138	0.0:1.0:0.0:0.0	.	123;150	B2RCZ7;O95571	.;ETHE1_HUMAN	T	150	ENSP00000292147:A150T	ENSP00000292147:A150T	A	-	1	0	ETHE1	48707486	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.703000	0.74633	2.808000	0.96608	0.549000	0.68633	GCC	ETHE1-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000463186.1		-	ENST00000600651.1	Missense_Mutation	SNP	19 : 44015646 - 44015646 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	271	38
AASS	10157	broad.mit.edu	37	7	121726195	121726195	+	Silent	SNP	G	G	A	rs145793131		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121726195G>A	ENST00000393376.1	-	18	2150	c.2055C>T	c.(2053-2055)gcC>gcT	p.A685A	AASS_ENST00000417368.2_Silent_p.A685A|AASS_ENST00000473553.1_5'UTR			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	685	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	TGGACGTAACGGCATCAAGAA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		4,4402	8.1+/-20.4	0,4,2199	72	69	70		2055	-12.2	0	7	dbSNP_134	70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	AASS	NM_005763.3		0,5,6498	AA,AG,GG	NA	0.0116,0.0908,0.0384		685/927	121726195	5,13001	2203	4300	6503	SO:0001819	synonymous_variant			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311	10157	10157			17366	protein-coding gene	gene with protein product		605113			NA	10775527	Standard	NM_005763	NM_005763	NA	Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.2055C>T	7.37:g.121726195G>A		NA	O95462	37	CCDS5783.1																																																																																			AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347300.1		-	ENST00000393376.1	Silent	SNP	7 : 121726195 - 121726195 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	186	38
COL4A3BP	10087	broad.mit.edu	37	5	74676924	74676924	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74676924G>A	ENST00000380494.5	-	17	2397	c.2104C>T	c.(2104-2106)Cta>Tta	p.L702L	COL4A3BP_ENST00000405807.4_Silent_p.L574L|COL4A3BP_ENST00000508692.1_Intron|COL4A3BP_ENST00000261415.7_Silent_p.L548L	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	574					ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		ATCTTGCATAGAATGTTGTCC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													241	215	224			NA	NA	5		NA											NA				74676924		2203	4300	6503	SO:0001819	synonymous_variant			AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163	10087	10087		StAR-related lipid transfer (START) domain containing, Pleckstrin homology (PH) domain containing	2205	protein-coding gene	gene with protein product	ceramide transporter, StAR-related lipid transfer (START) domain containing 11	604677			NA	10212244	Standard	NM_005713	NM_001130105	NA	Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000380494.5:c.2104C>T	5.37:g.74676924G>A		NA	A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	37	CCDS47235.1	.	.	.	.	.	.	.	.	.	.	G	9.121	1.009043	0.19199	.	.	ENSG00000113163	ENST00000508809	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	T	0.76905	0.4053	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74396	-0.3679	4	.	.	.	-7.9902	20.0985	0.97858	0.0:0.0:1.0:0.0	.	.	.	.	F	75	.	.	S	-	2	0	COL4A3BP	74712680	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.644000	0.61397	2.742000	0.94016	0.579000	0.79373	TCT	COL4A3BP-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219874.3		-	ENST00000380494.5	Silent	SNP	5 : 74676924 - 74676924 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	883	153
LMTK2	22853	broad.mit.edu	37	7	97823515	97823515	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97823515C>T	ENST00000297293.5	+	11	4031	c.3738C>T	c.(3736-3738)tcC>tcT	p.S1246S		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1246					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGGACAAGTCCCTGTCCAGCC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	51	49			NA	NA	7		NA											NA				97823515		2203	4300	6503	SO:0001819	synonymous_variant			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715	22853	22853			17880	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 100	610989			NA	15005709	Standard	NM_014916	NM_014916	NA	Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.3738C>T	7.37:g.97823515C>T		NA	A4D272|Q75MG7|Q9UPS3	37	CCDS5654.1																																																																																			LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334560.1		+	ENST00000297293.5	Silent	SNP	7 : 97823515 - 97823515 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	248	47
SYT8	90019	broad.mit.edu	37	11	1857478	1857478	+	Silent	SNP	G	G	A	rs114726683	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1857478G>A	ENST00000341958.3	+	4	782	c.480G>A	c.(478-480)acG>acA	p.T160T	SYT8_ENST00000483280.1_3'UTR|SYT8_ENST00000381968.3_Silent_p.T174T|SYT8_ENST00000436964.2_3'UTR|SYT8_ENST00000535046.1_3'UTR			Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	174	C2 1.					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACCGAGGCACGCTCTGCCCCG	0.677		NA											g	10	0.0046	0.02	NA	2184	NA	0.9995	,	,	NA	3e-04	NA	NA	NA	0.0048	0.9481	EXOME	NA	NA	3e-04	SNP								NA				0								G		48,4348		0,48,2150	52	41	45		522	-4.5	0.1	11	dbSNP_133	45	0,8594		0,0,4297	no	coding-synonymous	SYT8	NM_138567.3		0,48,6447	AA,AG,GG	NA	0.0,1.0919,0.3695		174/402	1857478	48,12942	2198	4297	6495	SO:0001819	synonymous_variant			AL137708	CCDS7726.2	11p15.5	2013-01-21			ENSG00000149043	ENSG00000149043	90019	90019		Synaptotagmins	19264	protein-coding gene	gene with protein product		607719			NA	7791877	Standard		XM_005253216	NA	Approved	DKFZp434K0322	uc001lue.1	Q8NBV8	OTTHUMG00000009026	ENST00000341958.3:c.480G>A	11.37:g.1857478G>A		NA	A6NFJ4|Q9NSV9	37		10	0.004578754578754579	10	0.02032520325203252	0	0.0	0	0.0	0	0.0	g	7.453	0.643171	0.14451	0.010919	0.0	ENSG00000149043	ENST00000381978	.	.	.	2.76	-4.5	0.03493	.	.	.	.	.	T	0.30759	0.0775	.	.	.	0.41016	D	0.985049	.	.	.	.	.	.	T	0.40997	-0.9533	4	.	.	.	.	5.7237	0.18000	0.4233:0.3498:0.2269:0.0	.	.	.	.	T	173	.	.	A	+	1	0	SYT8	1814054	0.000000	0.05858	0.142000	0.22268	0.727000	0.41649	-6.358000	0.00069	-0.682000	0.05197	0.313000	0.20887	GCT	SYT8-004	NOVEL	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000027550.3		+	ENST00000341958.3	Silent	SNP	11 : 1857478 - 1857478 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	105	13
NT5DC1	221294	broad.mit.edu	37	6	116439102	116439102	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116439102T>C	ENST00000319550.4	+	6	605	c.523T>C	c.(523-525)Ttt>Ctt	p.F175L		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	175							hydrolase activity|metal ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		AATGTCAGCTTTTAAGGGTAA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(128;1440 1664 38087 41475 42869)							NA				0													92	93	92			NA	NA	6		NA											NA				116439102		2203	4298	6501	SO:0001583	missense			BC015138	CCDS5104.1	6q22.31	2008-02-05	2006-01-27	2006-01-27	ENSG00000178425	ENSG00000178425	221294	221294			21556	protein-coding gene	gene with protein product			5'-nucleotidase, cytosolic II-like 1	NT5C2L1	NA		Standard	NM_152729	NM_152729	NA	Approved	dJ486I3.1, MGC24302	uc003pwj.3	Q5TFE4	OTTHUMG00000015428	ENST00000319550.4:c.523T>C	6.37:g.116439102T>C	ENSP00000326858:p.Phe175Leu	NA	B2RND9|Q6XYD5	37	CCDS5104.1	.	.	.	.	.	.	.	.	.	.	T	34	5.311997	0.95655	.	.	ENSG00000178425	ENST00000368618;ENST00000319550;ENST00000419791	T;T	0.20881	2.85;2.04	5.76	5.76	0.90799	HAD-like domain (1);	0.109289	0.64402	D	0.000002	T	0.32102	0.0818	L	0.53561	1.675	0.80722	D	1	D;P;D	0.59767	0.986;0.94;0.984	D;P;P	0.67900	0.954;0.884;0.721	T	0.02567	-1.1140	10	0.52906	T	0.07	-8.5095	16.3634	0.83296	0.0:0.0:0.0:1.0	.	125;175;175	B3KR35;A8K2Z3;Q5TFE4	.;.;NT5D1_HUMAN	L	175	ENSP00000326858:F175L;ENSP00000393578:F175L	ENSP00000326858:F175L	F	+	1	0	NT5DC1	116545795	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.866000	0.75506	2.324000	0.78689	0.533000	0.62120	TTT	NT5DC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041931.3		+	ENST00000319550.4	Missense_Mutation	SNP	6 : 116439102 - 116439102 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	233	48
UNC79	57578	broad.mit.edu	37	14	94088131	94088131	+	Missense_Mutation	SNP	C	C	T	rs139010639		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94088131C>T	ENST00000553484.1	+	31	4772	c.4618C>T	c.(4618-4620)Cgt>Tgt	p.R1540C	UNC79_ENST00000393151.2_Missense_Mutation_p.R1518C|UNC79_ENST00000555664.1_Missense_Mutation_p.R1518C|UNC79_ENST00000256339.4_Missense_Mutation_p.R1341C			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1518						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AGACGAACATCGTAGGAAGTC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	95	97			NA	NA	14		NA											NA				94088131		2203	4300	6503	SO:0001583	missense			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958	57578	57578			19966	protein-coding gene	gene with protein product			KIAA1409	KIAA1409	NA	20714347, 21040849	Standard	XM_028395	NM_020818	NA	Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000553484.1:c.4618C>T	14.37:g.94088131C>T	ENSP00000451360:p.Arg1540Cys	NA	Q6ZUT7	37		.	.	.	.	.	.	.	.	.	.	C	18.60	3.659859	0.67586	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.32753	1.5;1.44;1.51;1.5	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.49012	0.1532	L	0.32530	0.975	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.44065	-0.9352	10	0.87932	D	0	-17.992	20.4561	0.99145	0.0:1.0:0.0:0.0	.	1540	C9JQL1	.	C	1341;1518;1540;1518;1540	ENSP00000256339:R1341C;ENSP00000450868:R1518C;ENSP00000451360:R1540C;ENSP00000376858:R1518C	ENSP00000256339:R1341C	R	+	1	0	KIAA1409	93157884	1.000000	0.71417	0.983000	0.44433	0.989000	0.77384	5.717000	0.68446	2.847000	0.97988	0.591000	0.81541	CGT	UNC79-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000074289.4		+	ENST00000553484.1	Missense_Mutation	SNP	14 : 94088131 - 94088131 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	448	87
GSTCD	79807	broad.mit.edu	37	4	106640301	106640301	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:106640301A>G	ENST00000515279.1	+	3	731	c.511A>G	c.(511-513)Act>Gct	p.T171A	GSTCD_ENST00000507281.1_Missense_Mutation_p.T84A|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000394728.3_Missense_Mutation_p.T171A|GSTCD_ENST00000360505.5_Missense_Mutation_p.T171A|GSTCD_ENST00000394730.3_Missense_Mutation_p.T84A			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	171	GST C-terminal.					cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		CCAGCCCCCAACTATACCTGT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	95	92			NA	NA	4		NA											NA				106640301		2203	4300	6503	SO:0001583	missense			BC032942	CCDS3672.2, CCDS43257.1	4q24	2008-02-05	2006-05-09		ENSG00000138780	ENSG00000138780	79807	79807			25806	protein-coding gene	gene with protein product		615912	Glutathione S-transferase, C-terminal domain containing		NA	12477932	Standard	NM_024751	NM_001031720	NA	Approved	FLJ13273	uc003hxz.4	Q8NEC7	OTTHUMG00000131211	ENST00000515279.1:c.511A>G	4.37:g.106640301A>G	ENSP00000422354:p.Thr171Ala	NA	A8K8J0|A8MVD3|Q9H8S3	37	CCDS43257.1	.	.	.	.	.	.	.	.	.	.	A	0.071	-1.202745	0.01581	.	.	ENSG00000138780	ENST00000394730;ENST00000507281;ENST00000515279;ENST00000360505;ENST00000394728	.	.	.	5.17	-10.3	0.00346	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	0.899655	0.09733	N	0.762952	T	0.18923	0.0454	L	0.28504	0.86	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.09377	0.004;0.002	T	0.17228	-1.0376	9	0.10111	T	0.7	-14.6755	6.6856	0.23144	0.3021:0.0757:0.4727:0.1494	.	84;171	D6R9W2;Q8NEC7	.;GSTCD_HUMAN	A	84;84;171;171;171	.	ENSP00000353695:T171A	T	+	1	0	GSTCD	106859750	0.000000	0.05858	0.000000	0.03702	0.124000	0.20399	-1.378000	0.02556	-1.941000	0.01042	-0.417000	0.06048	ACT	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363981.1		+	ENST00000515279.1	Missense_Mutation	SNP	4 : 106640301 - 106640301 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	713	159
DOCK4	9732	broad.mit.edu	37	7	111386404	111386404	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111386404G>A	ENST00000428084.1	-	44	4935	c.4663C>T	c.(4663-4665)Ctg>Ttg	p.L1555L	DOCK4_ENST00000437633.1_Silent_p.L1546L|DOCK4_ENST00000494651.2_Silent_p.L429L			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1546	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TCAAGCATCAGCTCTCTTAAT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	97	98			NA	NA	7		NA											NA				111386404		1909	4136	6045	SO:0001819	synonymous_variant				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512	9732	9732			19192	protein-coding gene	gene with protein product		607679			NA	12432077, 12628187	Standard	NM_014705	XM_006716188	NA	Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000428084.1:c.4663C>T	7.37:g.111386404G>A		NA	O14584|O94824|Q8NB45	37																																																																																				DOCK4-005	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000338943.2		-	ENST00000428084.1	Silent	SNP	7 : 111386404 - 111386404 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	92	16
CTNNB1	1499	broad.mit.edu	37	3	41266622	41266622	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41266622T>A	ENST00000349496.5	+	4	699	c.419T>A	c.(418-420)aTt>aAt	p.I140N	CTNNB1_ENST00000405570.1_Missense_Mutation_p.I140N|CTNNB1_ENST00000396185.3_Missense_Mutation_p.I140N|CTNNB1_ENST00000453024.1_Missense_Mutation_p.I133N|CTNNB1_ENST00000396183.3_Missense_Mutation_p.I140N	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	140					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.A5_Q143del(7)|p.W25_I140del(3)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.M5_N141>D(2)|p.M1_V173del(1)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.I35_K170del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GTAAACTTGATTAACTATCAA	0.438		15	H, Mis, T	PLAG1	colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma				Pilomatrixoma, Familial Clustering of					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(6;3 56 14213 18255)		Dom	yes		3	3p22-p21.3	1499	catenin (cadherin-associated protein), beta 1		E, M, O	22	Deletion - In frame(16)|Complex - deletion inframe(6)	liver(21)|skin(1)											143	126	131			NA	NA	3		NA											NA				41266622		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036	1499	1499		Armadillo repeat containing	2514	protein-coding gene	gene with protein product		116806	catenin (cadherin-associated protein), beta 1 (88kD)	CTNNB	NA	7829088	Standard	NM_001098210	NM_001098210	NA	Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.419T>A	3.37:g.41266622T>A	ENSP00000344456:p.Ile140Asn	NA	A8K1L7|Q8NEW9|Q8NI94|Q9H391	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.018389	0.75275	.	.	ENSG00000168036	ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T;T	0.65549	-0.16;0.94;-0.16;-0.16;-0.16;-0.16	5.4	5.4	0.78164	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78997	0.4372	M	0.78344	2.41	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.71414	0.973;0.973	T	0.81586	-0.0865	10	0.62326	D	0.03	-26.5655	15.7251	0.77751	0.0:0.0:0.0:1.0	.	68;140	B4DSW9;P35222	.;CTNB1_HUMAN	N	140;140;140;140;133;140	ENSP00000385604:I140N;ENSP00000412219:I140N;ENSP00000379486:I140N;ENSP00000344456:I140N;ENSP00000411226:I133N;ENSP00000379488:I140N	ENSP00000344456:I140N	I	+	2	0	CTNNB1	41241626	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.997000	0.88414	2.175000	0.68902	0.533000	0.62120	ATT	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254182.2		+	ENST00000349496.5	Missense_Mutation	SNP	3 : 41266622 - 41266622 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	369	90
PRKCH	5583	broad.mit.edu	37	14	62014512	62014512	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:62014512G>A	ENST00000332981.5	+	13	2198	c.1813G>A	c.(1813-1815)Gag>Aag	p.E605K	PRKCH_ENST00000556245.1_3'UTR|RP11-47I22.4_ENST00000556347.1_Silent_p.A109A|PRKCH_ENST00000555082.1_Missense_Mutation_p.E444K	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	605	Protein kinase.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TCAGGGAGGCGAGCACGCCAT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(135;863 1779 8064 14443 26348)							NA				0													263	261	262			NA	NA	14		NA											NA				62014512		2203	4300	6503	SO:0001583	missense			M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	5583	5583	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL	NA	1986216, 1545821	Standard	NM_006255	NM_006255	NA	Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.1813G>A	14.37:g.62014512G>A	ENSP00000329127:p.Glu605Lys	NA	Q16246|Q8NE03	37	CCDS9752.1	.	.	.	.	.	.	.	.	.	.	G	35	5.424392	0.96111	.	.	ENSG00000027075	ENST00000332981;ENST00000555082	T;T	0.53206	0.63;0.63	5.99	5.99	0.97316	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000003	T	0.61311	0.2337	L	0.33137	0.985	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.61123	-0.7126	10	0.66056	D	0.02	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	605	P24723	KPCL_HUMAN	K	605;444	ENSP00000329127:E605K;ENSP00000450981:E444K	ENSP00000329127:E605K	E	+	1	0	PRKCH	61084265	1.000000	0.71417	0.927000	0.36925	0.595000	0.36748	9.805000	0.99149	2.840000	0.97914	0.655000	0.94253	GAG	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276974.2		+	ENST00000332981.5	Missense_Mutation	SNP	14 : 62014512 - 62014512 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1919	317
WDR52	0	broad.mit.edu	37	3	113120491	113120491	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113120491A>G	ENST00000295868.2	-	10	1428	c.1266T>C	c.(1264-1266)aaT>aaC	p.N422N	WDR52_ENST00000393845.2_Silent_p.N422N	NM_018338.3	NP_060808.2	Q96MT7	WDR52_HUMAN		422										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						AGAGATTCACATTCTTGTCTA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	119	120			NA	NA	3		NA											NA				113120491		2203	4300	6503	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000295868.2:c.1266T>C	3.37:g.113120491A>G		NA		37	CCDS2972.1																																																																																			WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354128.3		-	ENST00000295868.2	Silent	SNP	3 : 113120491 - 113120491 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	229	45
ANKRD17	26057	broad.mit.edu	37	4	73990976	73990976	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73990976C>T	ENST00000358602.4	-	17	3404	c.3288G>A	c.(3286-3288)gaG>gaA	p.E1096E	ANKRD17_ENST00000509867.2_Silent_p.E983E|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Silent_p.E845E	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1096					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTACCAGTTCCTCGTGGCCAC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	147	148			NA	NA	4		NA											NA				73990976		2203	4300	6503	SO:0001819	synonymous_variant			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466	26057	26057		Ankyrin repeat domain containing	23575	protein-coding gene	gene with protein product		615929			NA	11165478	Standard	NM_032217	NM_032217	NA	Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.3288G>A	4.37:g.73990976C>T		NA	Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	37	CCDS34004.1																																																																																			ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362475.1		-	ENST00000358602.4	Silent	SNP	4 : 73990976 - 73990976 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	706	140
MAP1B	4131	broad.mit.edu	37	5	71491850	71491850	+	Missense_Mutation	SNP	G	G	A	rs139604402		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71491850G>A	ENST00000296755.7	+	5	2966	c.2668G>A	c.(2668-2670)Gag>Aag	p.E890K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	890						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGGTCCTGCCGAGTCCCCTGA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(17;367 822 11631 31730 47712)							NA				0								G	LYS/GLU	0,4406		0,0,2203	106	109	108		2668	5.4	1	5	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MAP1B	NM_005909.3	56	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	890/2469	71491850	1,13005	2203	4300	6503	SO:0001583	missense			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711	4131	4131			6836	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 102	157129			NA	1881920	Standard	NM_005909	NM_005909	NA	Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.2668G>A	5.37:g.71491850G>A	ENSP00000296755:p.Glu890Lys	NA	A2BDK5	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861569	0.91433	0.0	1.16E-4	ENSG00000131711	ENST00000296755	T	0.03920	3.76	5.44	5.44	0.79542	.	0.187730	0.37761	N	0.001952	T	0.10121	0.0248	L	0.52573	1.65	0.80722	D	1	D;D	0.56521	0.976;0.957	P;B	0.46275	0.51;0.267	T	0.01269	-1.1400	10	0.66056	D	0.02	-21.0008	19.2467	0.93905	0.0:0.0:1.0:0.0	.	764;890	A2BDK6;P46821	.;MAP1B_HUMAN	K	890	ENSP00000296755:E890K	ENSP00000296755:E890K	E	+	1	0	MAP1B	71527606	1.000000	0.71417	0.999000	0.59377	0.822000	0.46500	8.012000	0.88631	2.557000	0.86248	0.591000	0.81541	GAG	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000218561.6		+	ENST00000296755.7	Missense_Mutation	SNP	5 : 71491850 - 71491850 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	896	167
KHNYN	23351	broad.mit.edu	37	14	24901383	24901383	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24901383G>A	ENST00000251343.5	+	3	1055	c.916G>A	c.(916-918)Gcc>Acc	p.A306T	KHNYN_ENST00000556842.1_Missense_Mutation_p.A306T|KHNYN_ENST00000553935.1_Missense_Mutation_p.A306T			O15037	KHNYN_HUMAN	KH and NYN domain containing	306										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GAAAGGGAAGGCCCTGGGGAA	0.647		NA									OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	86	85			NA	NA	14		NA											NA				24901383		2203	4300	6503	SO:0001583	missense			AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441	23351	23351			20166	protein-coding gene	gene with protein product			KIAA0323	KIAA0323	NA	17114934	Standard		NM_015299	NA	Approved		uc001wph.4	O15037		ENST00000251343.5:c.916G>A	14.37:g.24901383G>A	ENSP00000251343:p.Ala306Thr	774	Q86TZ6|Q8IUQ2|Q96BA9	37	CCDS32058.1	.	.	.	.	.	.	.	.	.	.	G	6.926	0.540476	0.13250	.	.	ENSG00000100441	ENST00000251343;ENST00000556842;ENST00000553935	T;T;T	0.23950	1.88;1.88;1.88	4.96	1.95	0.26073	.	1.291830	0.04908	N	0.452731	T	0.14700	0.0355	L	0.27053	0.805	0.19775	N	0.99995	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.24905	-1.0147	10	0.02654	T	1	.	4.1275	0.10134	0.1963:0.0:0.6217:0.182	.	347;306	D3DS77;O15037	.;KHNYN_HUMAN	T	306	ENSP00000251343:A306T;ENSP00000451106:A306T;ENSP00000450799:A306T	ENSP00000251343:A306T	A	+	1	0	KHNYN	23971223	0.741000	0.28217	0.110000	0.21437	0.668000	0.39293	1.130000	0.31393	0.507000	0.28148	-0.448000	0.05591	GCC	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412928.1		+	ENST00000251343.5	Missense_Mutation	SNP	14 : 24901383 - 24901383 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	252	53
GRIN2A	2903	broad.mit.edu	37	16	9858386	9858386	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:9858386T>G	ENST00000396573.2	-	14	3324	c.3015A>C	c.(3013-3015)aaA>aaC	p.K1005N	GRIN2A_ENST00000396575.2_Missense_Mutation_p.K1005N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.K1005N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.K1005N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.K848N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.K1005N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1005					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TAGAGTTCGCTTTGGATTCTG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	93	94			NA	NA	16		NA											NA				9858386		2197	4300	6497	SO:0001583	missense				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454	NA	2903		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4585	protein-coding gene	gene with protein product		138253		NMDAR2A	NA	9480759	Standard		XM_005255267	NA	Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3015A>C	16.37:g.9858386T>G	ENSP00000379818:p.Lys1005Asn	NA	O00669	37	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	T	6.706	0.498927	0.12762	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.12465	2.69;2.68;2.68;2.69;2.69	5.33	-2.16	0.07080	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.138656	0.64402	D	0.000005	T	0.13841	0.0335	L	0.51422	1.61	0.29012	N	0.886792	B;P;P	0.39576	0.358;0.679;0.611	B;B;B	0.43413	0.106;0.248;0.419	T	0.11494	-1.0585	9	.	.	.	.	10.8181	0.46589	0.0:0.4309:0.0:0.569	.	848;1005;1005	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	N	1005;1005;848;1005;1005	ENSP00000379818:K1005N;ENSP00000385872:K1005N;ENSP00000441572:K848N;ENSP00000332549:K1005N;ENSP00000379820:K1005N	.	K	-	3	2	GRIN2A	9765887	0.876000	0.30132	0.497000	0.27552	0.541000	0.35023	0.365000	0.20348	-0.475000	0.06852	0.533000	0.62120	AAA	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251930.3		-	ENST00000396573.2	Missense_Mutation	SNP	16 : 9858386 - 9858386 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	536	118
DOPEY2	9980	broad.mit.edu	37	21	37617836	37617836	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37617836G>A	ENST00000399151.3	+	19	3643	c.3558G>A	c.(3556-3558)acG>acA	p.T1186T		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1186					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CGGACAAGACGCAGGCTTCTG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	40	40			NA	NA	21		NA											NA				37617836		2203	4300	6503	SO:0001819	synonymous_variant			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197	9980	9980			1291	protein-coding gene	gene with protein product		604803	chromosome 21 open reading frame 5	C21orf5	NA	16301316, 16303751, 10931277	Standard	NM_005128	NM_005128	NA	Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.3558G>A	21.37:g.37617836G>A		NA	D3DSG5|Q6PJQ7|Q9UEZ3	37	CCDS13643.1																																																																																			DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000194636.1		+	ENST00000399151.3	Silent	SNP	21 : 37617836 - 37617836 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	58
PRG2	5553	broad.mit.edu	37	11	57156117	57156117	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57156117C>T	ENST00000311862.5	-	4	504	c.431G>A	c.(430-432)cGa>cAa	p.R144Q	PRG2_ENST00000533605.1_Missense_Mutation_p.R133Q|PRG2_ENST00000525955.1_Missense_Mutation_p.R144Q	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3			proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)	NA										central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				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)		ACACTGGATTCGATAATTAAT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	149	140	143		431	-10.6	0	11		143	0,8592		0,0,4296	no	missense	PRG2	NM_002728.4	43	0,1,6496	TT,TC,CC	NA	0.0,0.0227,0.0077		144/223	57156117	1,12993	2201	4296	6497	SO:0001583	missense			BC005929	CCDS7955.1, CCDS58133.1	11q12	2005-11-25				ENSG00000186652	5553	5553			9362	protein-coding gene	gene with protein product		605601			NA	1565101	Standard	NM_002728	NM_001243245	NA	Approved	MBP, BMPG		P13727		ENST00000311862.5:c.431G>A	11.37:g.57156117C>T	ENSP00000312134:p.Arg144Gln	NA		37	CCDS7955.1	.	.	.	.	.	.	.	.	.	.	C	9.222	1.033745	0.19590	2.27E-4	0.0	ENSG00000186652	ENST00000311862;ENST00000533605;ENST00000525955	T;T;T	0.18502	2.21;2.21;2.21	5.32	-10.6	0.00265	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.450750	0.04539	N	0.387862	T	0.06508	0.0167	N	0.05177	-0.1	0.09310	N	1	B;B	0.20550	0.0;0.046	B;B	0.15870	0.001;0.014	T	0.30031	-0.9992	10	0.27082	T	0.32	.	9.5745	0.39450	0.216:0.5966:0.0:0.1874	.	133;144	A6XMW0;P13727	.;PRG2_HUMAN	Q	144;133;144	ENSP00000312134:R144Q;ENSP00000433231:R133Q;ENSP00000433016:R144Q	ENSP00000312134:R144Q	R	-	2	0	PRG2	56912693	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.161000	0.00283	-1.470000	0.01888	-2.087000	0.00375	CGA	PRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392468.1		-	ENST00000311862.5	Missense_Mutation	SNP	11 : 57156117 - 57156117 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	948	176
MAPK8IP3	23162	broad.mit.edu	37	16	1816924	1816924	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1816924C>A	ENST00000250894.4	+	25	3194	c.3037C>A	c.(3037-3039)Ctg>Atg	p.L1013M	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.L1007M	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1013					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AGGCCGTGTGCTGGTGGCTCT	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	60	57			NA	NA	16		NA											NA				1816924		2100	4210	6310	SO:0001583	missense			AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834	23162	23162			6884	protein-coding gene	gene with protein product	homolog of Drosophila Sunday driver 2	605431			NA	10523642, 10629060	Standard	NM_001040439	XM_005255187	NA	Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.3037C>A	16.37:g.1816924C>A	ENSP00000250894:p.Leu1013Met	NA	A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	37	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921714	0.73213	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.38887	1.11;1.11	4.03	4.03	0.46877	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.176079	0.38436	N	0.001696	T	0.64702	0.2622	M	0.73598	2.24	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.989;0.993;0.998	T	0.71115	-0.4686	10	0.72032	D	0.01	-15.1615	16.1662	0.81757	0.0:1.0:0.0:0.0	.	1014;1007;1013	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	M	1013;1007	ENSP00000250894:L1013M;ENSP00000348290:L1007M	ENSP00000250894:L1013M	L	+	1	2	MAPK8IP3	1756925	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	3.686000	0.54685	1.976000	0.57569	0.591000	0.81541	CTG	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250508.2		+	ENST00000250894.4	Missense_Mutation	SNP	16 : 1816924 - 1816924 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	486	98
FXR1	8087	broad.mit.edu	37	3	180666195	180666195	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:180666195C>T	ENST00000357559.4	+	5	715	c.331C>T	c.(331-333)Cga>Tga	p.R111*	FXR1_ENST00000480918.1_Nonsense_Mutation_p.R98*|FXR1_ENST00000305586.7_Nonsense_Mutation_p.R26*|FXR1_ENST00000468861.1_Nonsense_Mutation_p.R26*|FXR1_ENST00000491062.1_Nonsense_Mutation_p.R62*|FXR1_ENST00000445140.2_Nonsense_Mutation_p.R111*	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	111					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			CACATTTGAACGACTTCGGCC	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	53	53			NA	NA	3		NA											NA				180666195		2203	4300	6503	SO:0001587	stop_gained			M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416	NA	8087			4023	protein-coding gene	gene with protein product		600819			NA	7781595, 9642279	Standard		NM_005087	NA	Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.331C>T	3.37:g.180666195C>T	ENSP00000350170:p.Arg111*	NA	A8K9B8|Q7Z450|Q8N6R8	37	CCDS3238.1	.	.	.	.	.	.	.	.	.	.	C	38	6.876758	0.97904	.	.	ENSG00000114416	ENST00000469882;ENST00000484790;ENST00000465551;ENST00000357559;ENST00000305586;ENST00000491062;ENST00000468861;ENST00000445140;ENST00000484958;ENST00000480918;ENST00000484042	.	.	.	5.84	2.92	0.33932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.4776	15.6882	0.77426	0.4626:0.5374:0.0:0.0	.	.	.	.	X	26;26;26;111;26;62;26;111;26;98;115	.	ENSP00000307633:R26X	R	+	1	2	FXR1	182148889	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.668000	0.46816	0.761000	0.33130	0.650000	0.86243	CGA	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350265.5		+	ENST00000357559.4	Nonsense_Mutation	SNP	3 : 180666195 - 180666195 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	277	43
GLRA1	2741	broad.mit.edu	37	5	151208548	151208548	+	Silent	SNP	G	G	A	rs17112272	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151208548G>A	ENST00000274576.4	-	8	1285	c.993C>T	c.(991-993)gcC>gcT	p.A331A	GLRA1_ENST00000455880.2_Silent_p.A331A|GLRA1_ENST00000545569.1_Silent_p.A248A	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	331					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CAAAGTTAACGGCAGCATATT	0.512		NA											G	6	0.0027	0.01	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0028	0.9921	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0								G	,	55,4351	55.5+/-91.7	0,55,2148	123	119	120		993,993	-7.3	0.2	5	dbSNP_123	120	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GLRA1	NM_000171.3,NM_001146040.1	,	0,55,6448	AA,AG,GG	NA	0.0,1.2483,0.4229	,	331/450,331/458	151208548	55,12951	2203	4300	6503	SO:0001819	synonymous_variant				CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888	2741	2741		Ligand-gated ion channels / Glycine receptors	4326	protein-coding gene	gene with protein product	startle disease/hyperekplexia, stiff person syndrome	138491	glycine receptor, alpha 1 (startle disease/hyperekplexia)	STHE	NA	1355335, 8298642	Standard		NM_000171	NA	Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000274576.4:c.993C>T	5.37:g.151208548G>A		NA	B2R6T3|Q14C77|Q6DJV9	37	CCDS4320.1																																																																																			GLRA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252429.2		-	ENST00000274576.4	Silent	SNP	5 : 151208548 - 151208548 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	756	161
MYO15A	51168	broad.mit.edu	37	17	18054176	18054176	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18054176G>A	ENST00000205890.5	+	38	7760	c.7422G>A	c.(7420-7422)acG>acA	p.T2474T		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2474	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGCAGGCCACGGCACTCCAGC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4072		0,0,2036	20	26	24		7422	4	1	17		24	1,8353		0,1,4176	no	coding-synonymous	MYO15A	NM_016239.3		0,1,6212	AA,AG,GG	NA	0.012,0.0,0.0080		2474/3531	18054176	1,12425	2036	4177	6213	SO:0001819	synonymous_variant			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536	51168	51168		Myosins / Myosin superfamily : Class XV	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15	NA	9603736	Standard	NM_016239	NM_016239	NA	Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.7422G>A	17.37:g.18054176G>A		NA		37	CCDS42271.1																																																																																			MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132048.1		+	ENST00000205890.5	Silent	SNP	17 : 18054176 - 18054176 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	69	8
CAPN5	726	broad.mit.edu	37	11	76825452	76825452	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76825452G>A	ENST00000456580.2	+	6	928	c.791G>A	c.(790-792)cGg>cAg	p.R264Q	CAPN5_ENST00000529629.1_Missense_Mutation_p.R224Q|CAPN5_ENST00000278559.3_Missense_Mutation_p.R224Q|CAPN5_ENST00000531028.1_Intron			O15484	CAN5_HUMAN	calpain 5	224	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						GTGCACAGCCGGGGCGGCCTC	0.587		NA									OREG0021255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	4e-04	0.95	EXOME	NA	NA	3e-04	SNP								NA				0								G	GLN/ARG	0,4400		0,0,2200	173	167	169		671	4.7	1	11		169	1,8583	1.2+/-3.3	0,1,4291	no	missense	CAPN5	NM_004055.4	43	0,1,6491	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	224/641	76825452	1,12983	2200	4292	6492	SO:0001583	missense				CCDS8248.1	11q14	2014-01-29				ENSG00000149260	726	726			1482	protein-coding gene	gene with protein product		602537	vitreoretinopathy, neovascular inflammatory	VRNI	NA	9503024, 9367857, 23055945	Standard	NM_004055	NM_004055	NA	Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000456580.2:c.791G>A	11.37:g.76825452G>A	ENSP00000409996:p.Arg264Gln	1171	O00263	37		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	32	5.115359	0.94339	0.0	1.16E-4	ENSG00000149260	ENST00000278559;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	D;D;D	0.88201	-2.35;-2.35;-2.35	4.72	4.72	0.59763	Peptidase C2, calpain, catalytic domain (3);	0.120719	0.56097	D	0.000029	D	0.93831	0.8027	M	0.71206	2.165	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;0.991;0.991;1.0	D;P;P;D	0.91635	0.999;0.701;0.701;0.999	D	0.94435	0.7653	10	0.72032	D	0.01	.	16.8563	0.86007	0.0:0.0:1.0:0.0	.	262;264;264;224	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	Q	224;264;224;264;264	ENSP00000278559:R224Q;ENSP00000432332:R224Q;ENSP00000409996:R264Q	ENSP00000278559:R224Q	R	+	2	0	CAPN5	76503100	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	7.860000	0.86993	2.438000	0.82558	0.655000	0.94253	CGG	CAPN5-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000382568.1		+	ENST00000456580.2	Missense_Mutation	SNP	11 : 76825452 - 76825452 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1363	235
AGRN	375790	broad.mit.edu	37	1	989228	989228	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:989228C>T	ENST00000379370.2	+	34	5797	c.5747C>T	c.(5746-5748)gCa>gTa	p.A1916V		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1916	Laminin G-like 3.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		ACGGAGCGGGCAGACTATGTG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	41	45			NA	NA	1		NA											NA				989228		2200	4298	6498	SO:0001583	missense			XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157	375790	375790		Proteoglycans / Extracellular Matrix : Other	329	protein-coding gene	gene with protein product	agrin proteoglycan	103320			NA	1851019, 12270958	Standard	NM_198576	NM_198576	NA	Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.5747C>T	1.37:g.989228C>T	ENSP00000368678:p.Ala1916Val	NA	Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	37	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.150289	0.57151	.	.	ENSG00000188157	ENST00000379370;ENST00000379364	T	0.79653	-1.29	4.47	4.47	0.54385	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.184656	0.35151	N	0.003403	T	0.78761	0.4334	L	0.29908	0.895	0.50039	D	0.99984	P	0.47253	0.892	P	0.51055	0.657	T	0.77446	-0.2585	10	0.30078	T	0.28	-7.4485	16.7343	0.85443	0.0:1.0:0.0:0.0	.	1916	O00468	AGRIN_HUMAN	V	1916;278	ENSP00000368678:A1916V	ENSP00000368671:A278V	A	+	2	0	AGRN	979091	1.000000	0.71417	0.574000	0.28523	0.013000	0.08279	7.574000	0.82434	2.042000	0.60477	0.462000	0.41574	GCA	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097990.2		+	ENST00000379370.2	Missense_Mutation	SNP	1 : 989228 - 989228 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	80	16
HECTD1	25831	broad.mit.edu	37	14	31576881	31576881	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31576881G>A	ENST00000399332.1	-	37	6998	c.6510C>T	c.(6508-6510)ggC>ggT	p.G2170G	HECTD1_ENST00000553700.1_Silent_p.G2170G	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2170	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TGGGTCCCAAGCCAGTTCCTT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	63	64			NA	NA	14		NA											NA				31576881		1804	4071	5875	SO:0001819	synonymous_variant			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148	25831	25831		Ankyrin repeat domain containing	20157	protein-coding gene	gene with protein product			HECT domain containing 1		NA	10574461	Standard		XM_005267502	NA	Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.6510C>T	14.37:g.31576881G>A		NA	Q6P445|Q86VJ1|Q96F34|Q9UFZ7	37	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	G	6.123	0.390926	0.11581	.	.	ENSG00000092148	ENST00000554882	.	.	.	5.4	0.363	0.16118	.	.	.	.	.	T	0.41834	0.1176	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21861	-1.0233	4	.	.	.	-7.9649	1.3289	0.02130	0.2089:0.1226:0.4159:0.2526	.	.	.	.	V	536	.	.	A	-	2	0	HECTD1	30646632	0.997000	0.39634	0.992000	0.48379	0.992000	0.81027	0.423000	0.21313	-0.210000	0.10140	-0.274000	0.10170	GCT	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409942.1		-	ENST00000399332.1	Silent	SNP	14 : 31576881 - 31576881 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	72
SYNE1	23345	broad.mit.edu	37	6	152485435	152485435	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152485435C>T	ENST00000367255.5	-	131	24254	c.23653G>A	c.(23653-23655)Gta>Ata	p.V7885I	SYNE1_ENST00000423061.1_Missense_Mutation_p.V7814I|SYNE1_ENST00000341594.5_Missense_Mutation_p.V7497I|SYNE1_ENST00000448038.1_Missense_Mutation_p.V7814I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Missense_Mutation_p.V40I|SYNE1_ENST00000539504.1_Missense_Mutation_p.V40I|SYNE1_ENST00000265368.4_Missense_Mutation_p.V7885I|SYNE1_ENST00000356820.4_Missense_Mutation_p.V2409I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7885					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCACGGCTACCAGGGTCTCC	0.552		NA								HNSCC(10;0.0054)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	66	68			NA	NA	6		NA											NA				152485435		2203	4300	6503	SO:0001583	missense			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018	23345	23345			17089	protein-coding gene	gene with protein product	myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1	608441	chromosome 6 open reading frame 98	C6orf98	NA	9872452, 10878022	Standard	NM_182961	NM_182961	NA	Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.23653G>A	6.37:g.152485435C>T	ENSP00000356224:p.Val7885Ile	NA	O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	32	5.180579	0.94846	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.56275	0.57;0.68;1.45;0.58;0.47;0.58;0.68;2.6;1.62;0.68	5.44	5.44	0.79542	.	0.000000	0.49305	D	0.000154	T	0.62233	0.2411	M	0.63428	1.95	0.80722	D	1	P;P;D;D;B	0.55605	0.673;0.673;0.965;0.972;0.215	B;P;P;P;B	0.62298	0.39;0.6;0.839;0.9;0.188	T	0.58423	-0.7639	10	0.37606	T	0.19	.	19.2685	0.93998	0.0:1.0:0.0:0.0	.	7885;7885;7814;7814;87	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	I	7885;40;531;7814;7885;7814;7497;2409;47;42;807;40	ENSP00000356224:V7885I;ENSP00000441052:V40I;ENSP00000356226:V531I;ENSP00000396024:V7814I;ENSP00000265368:V7885I;ENSP00000390975:V7814I;ENSP00000341887:V7497I;ENSP00000349276:V2409I;ENSP00000356220:V807I;ENSP00000346701:V40I	ENSP00000265368:V7885I	V	-	1	0	SYNE1	152527128	1.000000	0.71417	0.966000	0.40874	0.975000	0.68041	4.041000	0.57339	2.555000	0.86185	0.585000	0.79938	GTA	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334755.2		-	ENST00000367255.5	Missense_Mutation	SNP	6 : 152485435 - 152485435 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	478	92
FBN1	2200	broad.mit.edu	37	15	48779354	48779354	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48779354G>A	ENST00000316623.5	-	29	3962	c.3507C>T	c.(3505-3507)ggC>ggT	p.G1169G		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1169	EGF-like 18; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCACGCAACGGCCATTGGGGC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	71	74			NA	NA	15		NA											NA				48779354		2198	4296	6494	SO:0001819	synonymous_variant			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147	2200	2200			3603	protein-coding gene	gene with protein product	Marfan syndrome	134797	fibrillin 1 (Marfan syndrome)	FBN, MFS1, WMS	NA	10036187, 12525539	Standard		NM_000138	NA	Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3507C>T	15.37:g.48779354G>A		NA	B2RUU0|Q15972|Q75N87	37	CCDS32232.1																																																																																			FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417355.1		-	ENST00000316623.5	Silent	SNP	15 : 48779354 - 48779354 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	255	41
TBC1D9B	23061	broad.mit.edu	37	5	179291064	179291064	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179291064T>C	ENST00000356834.3	-	22	3174	c.3137A>G	c.(3136-3138)gAc>gGc	p.D1046G	TBC1D9B_ENST00000518085.1_5'UTR|TBC1D9B_ENST00000519746.1_Missense_Mutation_p.D205G|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.D1029G|TBC1D9B_ENST00000444477.2_Missense_Mutation_p.D187G	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1046						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGGTACAGGTCCTGCTCCAT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	38	40			NA	NA	5		NA											NA				179291064		2203	4300	6503	SO:0001583	missense			AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226	23061	23061		EF-hand domain containing	29097	protein-coding gene	gene with protein product					NA	9734811	Standard	NM_015043	NM_198868	NA	Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.3137A>G	5.37:g.179291064T>C	ENSP00000349291:p.Asp1046Gly	NA	D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	37	CCDS43408.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.61|17.61	3.433074|3.433074	0.62844|0.62844	.|.	.|.	ENSG00000197226|ENSG00000197226	ENST00000356834;ENST00000355235;ENST00000519746;ENST00000444477;ENST00000544438|ENST00000524222	T;T;T;T|.	0.36878|.	2.96;3.06;1.23;1.49|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.189265|.	0.44483|.	D|.	0.000454|.	T|T	0.68979|0.68979	0.3060|0.3060	L|L	0.55481|0.55481	1.735|1.735	0.51482|0.51482	D|D	0.999928|0.999928	B;B;B;B;B|.	0.15930|.	0.001;0.002;0.001;0.002;0.015|.	B;B;B;B;B|.	0.18561|.	0.005;0.012;0.005;0.006;0.022|.	T|T	0.67436|0.67436	-0.5671|-0.5671	10|5	0.62326|.	D|.	0.03|.	-23.3488|-23.3488	15.3622|15.3622	0.74487|0.74487	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1028;1029;1046;245;120|.	A1L3A9;Q66K14-2;Q66K14;B3KM54;F5H5B8|.	.;.;TBC9B_HUMAN;.;.|.	G|A	1046;1029;205;187;120|89	ENSP00000349291:D1046G;ENSP00000347375:D1029G;ENSP00000430293:D205G;ENSP00000401585:D187G|.	ENSP00000347375:D1029G|.	D|T	-|-	2|1	0|0	TBC1D9B|TBC1D9B	179223670|179223670	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.989000|0.989000	0.77384|0.77384	3.457000|3.457000	0.53007|0.53007	2.028000|2.028000	0.59812|0.59812	0.379000|0.379000	0.24179|0.24179	GAC|ACC	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253501.3		-	ENST00000356834.3	Missense_Mutation	SNP	5 : 179291064 - 179291064 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	268	70
SMC2	10592	broad.mit.edu	37	9	106875687	106875687	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:106875687G>T	ENST00000286398.7	+	11	1633	c.1345G>T	c.(1345-1347)Gaa>Taa	p.E449*	SMC2_ENST00000374793.3_Nonsense_Mutation_p.E449*|SMC2_ENST00000303219.8_Nonsense_Mutation_p.E449*|SMC2_ENST00000374787.3_Nonsense_Mutation_p.E449*	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	449					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GAAGGATCAAGAAGCTCTAGA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	71	71			NA	NA	9		NA											NA				106875687		2203	4299	6502	SO:0001587	stop_gained			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824	10592	10592		Structural maintenance of chromosomes proteins	14011	protein-coding gene	gene with protein product		605576	SMC2 (structural maintenance of chromosomes 2, yeast)-like 1, SMC2 structural maintenance of chromosomes 2-like 1 (yeast)	SMC2L1	NA	9789013	Standard		NM_006444	NA	Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.1345G>T	9.37:g.106875687G>T	ENSP00000286398:p.Glu449*	NA	Q6IEE0|Q9P1P2	37	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	40	8.432230	0.98808	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	.	.	.	4.86	3.96	0.45880	.	0.276742	0.42682	D	0.000671	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8318	9.247	0.37532	0.1751:0.0:0.8249:0.0	.	.	.	.	X	449	.	ENSP00000286398:E449X	E	+	1	0	SMC2	105915508	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.341000	0.79300	1.265000	0.44215	0.650000	0.86243	GAA	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053470.1		+	ENST00000286398.7	Nonsense_Mutation	SNP	9 : 106875687 - 106875687 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	50
SERINC3	10955	broad.mit.edu	37	20	43133515	43133515	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43133515G>A	ENST00000342374.4	-	7	958	c.801C>T	c.(799-801)tcC>tcT	p.S267S	SERINC3_ENST00000255175.1_Silent_p.S267S|SERINC3_ENST00000541235.1_Silent_p.S212S	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	267						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GCAAGAGGCCGGAGCGAGGCT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	115	120			NA	NA	20		NA											NA				43133515		2203	4300	6503	SO:0001819	synonymous_variant			U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824	10955	10955			11699	protein-coding gene	gene with protein product		607165	tumor differentially expressed 1	TDE1	NA	10559794	Standard	NM_006811	NM_006811	NA	Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.801C>T	20.37:g.43133515G>A		NA	O43717|Q9BR33	37	CCDS13333.1																																																																																			SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080544.3		-	ENST00000342374.4	Silent	SNP	20 : 43133515 - 43133515 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	207	34
IL6ST	3572	broad.mit.edu	37	5	55247894	55247894	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55247894T>C	ENST00000381298.2	-	13	1874	c.1562A>G	c.(1561-1563)aAa>aGa	p.K521R	IL6ST_ENST00000502326.3_Missense_Mutation_p.K521R|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000381294.3_Missense_Mutation_p.K460R|IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000336909.5_Missense_Mutation_p.K521R|IL6ST_ENST00000536319.1_3'UTR	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	521	Fibronectin type-III 5.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				AGTAGGTCCTTTGGAAGGTGC	0.343		NA	O		hepatocellular ca									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		5	5q11	3572	interleukin 6 signal transducer (gp130, oncostatin M receptor)		E	0													69	60	63			NA	NA	5		NA											NA				55247894		2203	4300	6503	SO:0001583	missense			M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352	3572	3572		Interleukins and interleukin receptors, CD molecules, Fibronectin type III domain containing	6021	protein-coding gene	gene with protein product	gp130, oncostatin M receptor	600694	interleukin 6 signal transducer (gp130, oncostatin M receptor)		NA	2261637	Standard	NM_002184	NM_002184	NA	Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.1562A>G	5.37:g.55247894T>C	ENSP00000370698:p.Lys521Arg	NA	A0N0L4|Q9UQ41	37	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	T	11.84	1.757534	0.31137	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294	T;T;T	0.53640	0.61;0.61;2.3	5.83	-3.57	0.04612	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.460210	0.28109	N	0.016572	T	0.25644	0.0624	L	0.28458	0.855	0.52099	D	0.999945	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.13407	0.002;0.009;0.002	T	0.15521	-1.0434	10	0.10902	T	0.67	.	8.4371	0.32793	0.1046:0.4327:0.0:0.4626	.	521;460;521	Q17RA0;Q5FC04;P40189	.;.;IL6RB_HUMAN	R	521;521;460	ENSP00000370698:K521R;ENSP00000338799:K521R;ENSP00000370694:K460R	ENSP00000338799:K521R	K	-	2	0	IL6ST	55283651	0.747000	0.28283	0.976000	0.42696	0.953000	0.61014	-0.512000	0.06313	-0.357000	0.08175	-0.899000	0.02877	AAA	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214146.3		-	ENST00000381298.2	Missense_Mutation	SNP	5 : 55247894 - 55247894 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	211	9
KMT2C	58508	broad.mit.edu	37	7	151884856	151884856	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151884856A>G	ENST00000262189.6	-	32	4955	c.4737T>C	c.(4735-4737)ccT>ccC	p.P1579P	KMT2C_ENST00000355193.2_Silent_p.P1579P	NM_170606.2	NP_733751.2			lysine (K)-specific methyltransferase 2C	NA											NA						GTCCGCTTCCAGGTGGCAAAG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	104	106			NA	NA	7		NA											NA				151884856		2203	4300	6503	SO:0001819	synonymous_variant			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609	58508	58508		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	13726	protein-coding gene	gene with protein product		606833	myeloid/lymphoid or mixed-lineage leukemia 3	MLL3	NA	10819331	Standard		XM_005250026	NA	Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.4737T>C	7.37:g.151884856A>G		NA		37	CCDS5931.1																																																																																			KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318887.3		-	ENST00000262189.6	Silent	SNP	7 : 151884856 - 151884856 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	578	89
LRRC43	254050	broad.mit.edu	37	12	122669187	122669187	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122669187G>A	ENST00000339777.4	+	2	300	c.272G>A	c.(271-273)cGc>cAc	p.R91H	LRRC43_ENST00000425921.1_5'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	91								p.R91H(1)		NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GTCCGCAGCCGCCACTCCCCC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	breast(1)											38	42	41			NA	NA	12		NA											NA				122669187		1948	4134	6082	SO:0001583	missense			AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113	254050	254050			28562	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152759	NM_152759	NA	Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.272G>A	12.37:g.122669187G>A	ENSP00000344233:p.Arg91His	NA	Q6ZVT9	37	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907017	0.52333	.	.	ENSG00000158113	ENST00000339777	T	0.55588	0.51	4.94	0.924	0.19418	.	.	.	.	.	T	0.23649	0.0572	N	0.08118	0	0.58432	D	0.999993	B	0.33807	0.426	B	0.11329	0.006	T	0.03981	-1.0987	9	0.52906	T	0.07	-2.3834	5.9409	0.19192	0.1277:0.4215:0.3783:0.0725	.	91	Q8N309	LRC43_HUMAN	H	91	ENSP00000344233:R91H	ENSP00000344233:R91H	R	+	2	0	LRRC43	121235140	0.001000	0.12720	0.996000	0.52242	0.951000	0.60555	-0.107000	0.10873	0.125000	0.18397	-0.384000	0.06662	CGC	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401589.1		+	ENST00000339777.4	Missense_Mutation	SNP	12 : 122669187 - 122669187 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	215	13
SLC6A16	28968	broad.mit.edu	37	19	49812269	49812269	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49812269G>T	ENST00000454748.3	-	7	1294	c.1093C>A	c.(1093-1095)Ccc>Acc	p.P365T	SLC6A16_ENST00000335875.4_Missense_Mutation_p.P365T			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	365						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		TTGGACTGGGGCATGTAGGAG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	136	137			NA	NA	19		NA											NA				49812269		2067	4182	6249	SO:0001583	missense			AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127	28968	28968		Solute carriers	13622	protein-coding gene	gene with protein product	NTT5 protein	607972	solute carrier family 6 (neurotransmitter transporter), member 16		NA	10471414, 11112352	Standard	NM_014037	XM_005258820	NA	Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000454748.3:c.1093C>A	19.37:g.49812269G>T	ENSP00000404022:p.Pro365Thr	NA	Q9Y5I9	37		.	.	.	.	.	.	.	.	.	.	G	13.37	2.215951	0.39201	.	.	ENSG00000063127	ENST00000335875;ENST00000454748	T;T	0.75050	-0.9;-0.9	4.38	-7.37	0.01412	.	0.693049	0.14340	N	0.325763	T	0.51517	0.1679	L	0.39566	1.225	0.09310	N	1	P;P	0.36789	0.57;0.57	B;B	0.37943	0.261;0.261	T	0.48896	-0.8994	10	0.23891	T	0.37	.	0.833	0.01134	0.2528:0.3354:0.1588:0.2531	.	365;365	Q8IYV4;Q9GZN6	.;S6A16_HUMAN	T	365	ENSP00000338627:P365T;ENSP00000404022:P365T	ENSP00000338627:P365T	P	-	1	0	SLC6A16	54504081	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.867000	0.04241	-1.132000	0.02907	-0.258000	0.10820	CCC	SLC6A16-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000465504.1		-	ENST00000454748.3	Missense_Mutation	SNP	19 : 49812269 - 49812269 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	661	121
GALNTL5	168391	broad.mit.edu	37	7	151668056	151668056	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151668056G>T	ENST00000392800.2	+	3	528	c.274G>T	c.(274-276)Gaa>Taa	p.E92*	GALNTL5_ENST00000431418.2_Nonsense_Mutation_p.E92*	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	92						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		TACAAACCCAGAACTTCATAA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	67	66			NA	NA	7		NA											NA				151668056		2203	4297	6500	SO:0001587	stop_gained			AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648	168391	168391		Glycosyltransferase family 2 domain containing	21725	protein-coding gene	gene with protein product	polypeptide GalNAc transferase-like 5	615133	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15, UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	GALNT15	NA		Standard	NM_145292	NM_145292	NA	Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.274G>T	7.37:g.151668056G>T	ENSP00000376548:p.Glu92*	NA	Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	37	CCDS5929.1	.	.	.	.	.	.	.	.	.	.	G	32	5.144923	0.94603	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	.	.	.	4.94	3.14	0.36123	.	1.405840	0.04436	N	0.370099	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	7.6325	0.28247	0.1907:0.0:0.8093:0.0	.	.	.	.	X	92	.	ENSP00000376548:E92X	E	+	1	0	GALNTL5	151298989	0.757000	0.28394	0.028000	0.17463	0.023000	0.10783	1.917000	0.39996	0.788000	0.33755	-0.140000	0.14226	GAA	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348395.1		+	ENST00000392800.2	Nonsense_Mutation	SNP	7 : 151668056 - 151668056 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	257	35
LARP1	23367	broad.mit.edu	37	5	154174798	154174798	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154174798T>C	ENST00000336314.4	+	8	1089	c.1065T>C	c.(1063-1065)gcT>gcC	p.A355A		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	432							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAATGGATGCTGATGGTTTCC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													187	155	166			NA	NA	5		NA											NA				154174798		2203	4300	6503	SO:0001819	synonymous_variant			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506	23367	23367		La ribonucleoprotein domain containing	29531	protein-coding gene	gene with protein product		612059			NA	9872452, 10878606	Standard	NM_033551	NM_015315	NA	Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1065T>C	5.37:g.154174798T>C		NA	O94836|Q8N4M2|Q8NB73|Q9UFD7	37	CCDS4328.1																																																																																			LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252509.1		+	ENST00000336314.4	Silent	SNP	5 : 154174798 - 154174798 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	392	93
LRRC39	127495	broad.mit.edu	37	1	100624921	100624921	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100624921A>C	ENST00000370138.1	-	5	468	c.270T>G	c.(268-270)ctT>ctG	p.L90L	LRRC39_ENST00000370137.1_Silent_p.L90L|LRRC39_ENST00000342895.3_Silent_p.L90L	NM_001256385.1	NP_001243314.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	90										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		CAGTTCTATGAAGTTGCCATT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	104	104			NA	NA	1		NA											NA				100624921		2203	4300	6503	SO:0001819	synonymous_variant			AK096892	CCDS766.1, CCDS58014.1	1p21.3	2008-02-05			ENSG00000122477	ENSG00000122477	127495	127495			28228	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_144620	NM_001256385	NA	Approved	MGC14816	uc001dsx.2	Q96DD0	OTTHUMG00000010839	ENST00000370138.1:c.270T>G	1.37:g.100624921A>C		NA	B3KUD2|D3DT56|Q5VVK7	37	CCDS58014.1																																																																																			LRRC39-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000030088.1		-	ENST00000370138.1	Silent	SNP	1 : 100624921 - 100624921 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	465	92
ERC2	26059	broad.mit.edu	37	3	56330455	56330455	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:56330455C>A	ENST00000288221.6	-	3	921	c.666G>T	c.(664-666)caG>caT	p.Q222H		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	222						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GGATTGTCAACTGTAGGTGCT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	59	60			NA	NA	3		NA											NA				56330455		2001	4171	6172	SO:0001583	missense			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672	26059	26059			31922	protein-coding gene	gene with protein product					NA		Standard	NM_015576	NM_015576	NA	Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.666G>T	3.37:g.56330455C>A	ENSP00000288221:p.Gln222His	NA	Q2T9F6|Q86TK4	37	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.632651	0.47049	.	.	ENSG00000187672	ENST00000288221	T	0.54479	0.57	5.86	3.14	0.36123	.	0.000000	0.85682	D	0.000000	T	0.64103	0.2568	L	0.53729	1.69	0.44181	D	0.996993	D	0.62365	0.991	D	0.75484	0.986	T	0.60924	-0.7166	10	0.46703	T	0.11	-27.0337	10.2316	0.43258	0.0:0.7198:0.0:0.2802	.	222	O15083	ERC2_HUMAN	H	222	ENSP00000288221:Q222H	ENSP00000288221:Q222H	Q	-	3	2	ERC2	56305495	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.649000	0.46656	0.496000	0.27904	0.650000	0.86243	CAG	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350884.2		-	ENST00000288221.6	Missense_Mutation	SNP	3 : 56330455 - 56330455 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	283	60
PIGQ	9091	broad.mit.edu	37	16	624165	624165	+	Missense_Mutation	SNP	G	G	A	rs148273392		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:624165G>A	ENST00000321878.5	+	2	250	c.91G>A	c.(91-93)Gtg>Atg	p.V31M	PIGQ_ENST00000409527.2_Missense_Mutation_p.V31M|PIGQ_ENST00000026218.5_Missense_Mutation_p.V31M|PIGQ_ENST00000470411.2_Missense_Mutation_p.V31M	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	31					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GAGCAGCGCCGTGGTCCTGGC	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/VAL,MET/VAL	0,4400		0,0,2200	76	61	66		91,91	5.2	0.9	16	dbSNP_134	66	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	PIGQ	NM_004204.3,NM_148920.1	21,21	0,1,6497	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging	31/582,31/761	624165	1,12995	2200	4298	6498	SO:0001583	missense			AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541	9091	9091		Phosphatidylinositol glycan anchor biosynthesis	14135	protein-coding gene	gene with protein product		605754	phosphatidylinositol glycan, class Q		NA	9463366, 9729469	Standard	NM_004204	NM_004204	NA	Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000321878.5:c.91G>A	16.37:g.624165G>A	ENSP00000326674:p.Val31Met	NA	A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	37	CCDS10412.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620397	0.66787	0.0	1.16E-4	ENSG00000007541	ENST00000293874;ENST00000409527;ENST00000409439;ENST00000422307;ENST00000321878;ENST00000439574;ENST00000026218;ENST00000470411	T;T;T;T;T;T;T;T	0.58652	0.38;0.43;0.36;0.42;0.43;0.42;1.68;0.32	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.74222	0.3688	M	0.63843	1.955	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.981;0.982;0.992;0.988	T	0.77101	-0.2712	10	0.87932	D	0	-31.9028	17.6476	0.88153	0.0:0.0:1.0:0.0	.	45;31;31;31	E7ERP4;Q9BRB3;Q9BRB3-2;Q9BRB3-3	.;PIGQ_HUMAN;.;.	M	31	ENSP00000293874:V31M;ENSP00000386760:V31M;ENSP00000386554:V31M;ENSP00000413753:V31M;ENSP00000326674:V31M;ENSP00000387820:V31M;ENSP00000026218:V31M;ENSP00000439650:V31M	ENSP00000026218:V31M	V	+	1	0	PIGQ	564166	1.000000	0.71417	0.943000	0.38184	0.593000	0.36681	6.413000	0.73308	2.409000	0.81822	0.511000	0.50034	GTG	PIGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109083.3		+	ENST00000321878.5	Missense_Mutation	SNP	16 : 624165 - 624165 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	243	61
NXPE3	91775	broad.mit.edu	37	3	101535756	101535756	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101535756T>G	ENST00000491511.2	+	7	1996	c.1040T>G	c.(1039-1041)aTt>aGt	p.I347S	NXPE3_ENST00000422132.1_Missense_Mutation_p.I347S|NXPE3_ENST00000477909.1_Missense_Mutation_p.I347S|NXPE3_ENST00000273347.5_Missense_Mutation_p.I347S	NM_001134456.1	NP_001127928.1			neurexophilin and PC-esterase domain family, member 3	NA											NA						CCTGACAACATTACAGAGTGC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													180	175	176			NA	NA	3		NA											NA				101535756		2203	4300	6503	SO:0001583	missense			AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815	91775	91775			28238	protein-coding gene	gene with protein product			family with sequence similarity 55, member C	FAM55C	NA	12975309	Standard	NM_145037	NM_001134456	NA	Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.1040T>G	3.37:g.101535756T>G	ENSP00000417485:p.Ile347Ser	NA		37	CCDS2945.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.828500	0.90955	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	5.86	5.86	0.93980	.	0.252557	0.45126	D	0.000400	T	0.31575	0.0801	M	0.85462	2.755	0.80722	D	1	P	0.47253	0.892	P	0.47941	0.562	T	0.16364	-1.0405	10	0.72032	D	0.01	-14.4097	16.5602	0.84551	0.0:0.0:0.0:1.0	.	347	Q969Y0	FA55C_HUMAN	S	347	ENSP00000273347:I347S;ENSP00000417485:I347S;ENSP00000418369:I347S;ENSP00000396421:I347S	ENSP00000273347:I347S	I	+	2	0	FAM55C	103018446	0.945000	0.32115	0.997000	0.53966	0.975000	0.68041	6.164000	0.71885	2.367000	0.80283	0.528000	0.53228	ATT	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353711.2		+	ENST00000491511.2	Missense_Mutation	SNP	3 : 101535756 - 101535756 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	910	184
DNAH9	1770	broad.mit.edu	37	17	11865483	11865483	+	Silent	SNP	G	G	A	rs138480985		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11865483G>A	ENST00000454412.2	+	67	12915	c.12915G>A	c.(12913-12915)acG>acA	p.T4305T	DNAH9_ENST00000608377.1_Silent_p.T693T|DNAH9_ENST00000262442.4_Silent_p.T4381T|DNAH9_ENST00000396001.2_3'UTR|RP11-1096G20.5_ENST00000580270.1_RNA			Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4381					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTGACATGACGAAGAAGAACA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								A	,	0,4406		0,0,2203	76	76	76		13143,2079	-10.1	0.4	17	dbSNP_134	76	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	DNAH9	NM_001372.3,NM_004662.2	,	0,3,6500	AA,AG,GG	NA	0.0349,0.0,0.0231	,	4381/4487,693/799	11865483	3,13003	2203	4300	6503	SO:0001819	synonymous_variant			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174	1770	1770		Axonemal dyneins	2953	protein-coding gene	gene with protein product		603330	dynein, axonemal, heavy polypeptide 17-like, dynein, axonemal, heavy polypeptide 9	DNAH17L	NA	8812413, 11247663	Standard	NM_001372	NM_001372	NA	Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000454412.2:c.12915G>A	17.37:g.11865483G>A		NA	O15064|O95494|Q9NQ28	37																																																																																				DNAH9-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000252758.4		+	ENST00000454412.2	Silent	SNP	17 : 11865483 - 11865483 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	423	37
CTPS1	1503	broad.mit.edu	37	1	41461643	41461643	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41461643G>A	ENST00000372621.4	+	8	1283	c.775G>A	c.(775-777)Gag>Aag	p.E259K	CTPS1_ENST00000372616.1_Missense_Mutation_p.E259K|CTPS1_ENST00000541520.1_Missense_Mutation_p.E28K|CTPS1_ENST00000543104.1_Missense_Mutation_p.E266K	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN	CTP synthase 1	259					CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding			endometrium(3)|lung(10)	13					L-Glutamine(DB00130)	GTTGTTAGAGGAGCAAGGGGT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	113	112			NA	NA	1		NA											NA				41461643		2203	4300	6503	SO:0001583	missense			BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	1503	1503	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	CTP synthase	CTPS	NA	1783378	Standard	NM_001905	XM_005270536	NA	Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.775G>A	1.37:g.41461643G>A	ENSP00000361704:p.Glu259Lys	NA	D3DPW1|Q5VW67|Q96GK6	37	CCDS459.1	.	.	.	.	.	.	.	.	.	.	G	9.347	1.064417	0.20067	.	.	ENSG00000171793	ENST00000372621;ENST00000541520;ENST00000543104;ENST00000372616	T;T;T	0.44083	0.94;0.93;0.94	5.81	4.9	0.64082	CTP synthase, N-terminal (1);	0.140808	0.64402	D	0.000008	T	0.31638	0.0803	L	0.31845	0.965	0.58432	D	0.99999	B;B	0.14805	0.001;0.011	B;B	0.21546	0.009;0.035	T	0.08534	-1.0717	10	0.11182	T	0.66	.	13.6622	0.62374	0.0746:0.0:0.9254:0.0	.	266;259	B7Z9C4;P17812	.;PYRG1_HUMAN	K	259;28;266;259	ENSP00000361704:E259K;ENSP00000442646:E28K;ENSP00000361699:E259K	ENSP00000361699:E259K	E	+	1	0	CTPS	41234230	1.000000	0.71417	1.000000	0.80357	0.125000	0.20455	5.178000	0.65037	1.466000	0.48025	-0.145000	0.13849	GAG	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000015629.1		+	ENST00000372621.4	Missense_Mutation	SNP	1 : 41461643 - 41461643 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	418	37
CCDC88C	440193	broad.mit.edu	37	14	91805638	91805638	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91805638G>A	ENST00000389857.6	-	8	879	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	265					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGCCTGACGCGCCGCAGCCTG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	47	45			NA	NA	14		NA											NA				91805638		2199	4296	6495	SO:0001583	missense				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133	440193	440193			19967	protein-coding gene	gene with protein product	Dvl-associating protein with a high frequency of leucine residues, spinocerebellar ataxia 40	611204	KIAA1509	KIAA1509	NA	17185515, 25062847	Standard	XM_029353	NM_001080414	NA	Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.793C>T	14.37:g.91805638G>A	ENSP00000374507:p.Arg265Cys	NA	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	37	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.583325	0.65992	.	.	ENSG00000015133	ENST00000389857;ENST00000541408	T	0.46063	0.88	5.25	3.21	0.36854	.	0.000000	0.47455	U	0.000234	T	0.59838	0.2223	M	0.83012	2.62	0.80722	D	1	D	0.67145	0.996	D	0.63793	0.918	T	0.63010	-0.6732	10	0.87932	D	0	-13.8149	7.375	0.26823	0.0:0.1158:0.4603:0.4238	.	265	Q9P219	DAPLE_HUMAN	C	265;229	ENSP00000374507:R265C	ENSP00000374507:R265C	R	-	1	0	CCDC88C	90875391	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	2.344000	0.44010	1.185000	0.42971	0.561000	0.74099	CGC	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411650.1		-	ENST00000389857.6	Missense_Mutation	SNP	14 : 91805638 - 91805638 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	187	44
TEKT3	64518	broad.mit.edu	37	17	15234932	15234932	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15234932C>T	ENST00000395930.1	-	3	158		c.e3-1		TEKT3_ENST00000338696.2_5'UTR	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	NA					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TAAATCTCTCCTGTTAAAAAA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	28	28			NA	NA	17		NA											NA				15234932		2203	4300	6503	SO:0001630	splice_region_variant			AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409	64518	64518			14293	protein-coding gene	gene with protein product		612683			NA	11381029, 14735490	Standard	NM_031898	NM_031898	NA	Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.29-1G>A	17.37:g.15234932C>T		NA	B2RAS7|D3DTT0|Q8N5R5|Q96M48	37	CCDS11169.1																																																																																			TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130385.2	Intron	-	ENST00000395930.1	Splice_Site	SNP	17 : 15234932 - 15234932 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	141	29
ISLR	3671	broad.mit.edu	37	15	74467777	74467777	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74467777C>T	ENST00000249842.3	+	2	935	c.578C>T	c.(577-579)aCa>aTa	p.T193I	ISLR_ENST00000395118.1_Missense_Mutation_p.T193I|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	193	LRRCT.				cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TGGCTCAAGACATGGGCCCTG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	47	50			NA	NA	15		NA											NA				74467777		2198	4297	6495	SO:0001583	missense			AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009	3671	3671		Immunoglobulin superfamily / I-set domain containing	6133	protein-coding gene	gene with protein product		602059			NA	9325048	Standard	NM_005545	NM_005545	NA	Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.578C>T	15.37:g.74467777C>T	ENSP00000249842:p.Thr193Ile	NA		37	CCDS10260.1	.	.	.	.	.	.	.	.	.	.	C	3.180	-0.168026	0.06461	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.52983	0.64;0.64	4.05	2.86	0.33363	Cysteine-rich flanking region, C-terminal (1);	1.087340	0.07255	U	0.866544	T	0.37183	0.0994	L	0.49350	1.555	0.09310	N	1	B	0.27625	0.183	B	0.16289	0.015	T	0.32161	-0.9917	10	0.42905	T	0.14	.	2.7872	0.05377	0.3256:0.4383:0.1303:0.1058	.	193	O14498	ISLR_HUMAN	I	193	ENSP00000249842:T193I;ENSP00000378550:T193I	ENSP00000249842:T193I	T	+	2	0	ISLR	72254830	0.469000	0.25846	0.855000	0.33649	0.120000	0.20174	1.615000	0.36922	1.822000	0.53115	0.313000	0.20887	ACA	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269044.1		+	ENST00000249842.3	Missense_Mutation	SNP	15 : 74467777 - 74467777 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	59
DSCAML1	57453	broad.mit.edu	37	11	117651219	117651219	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117651219C>T	ENST00000321322.6	-	2	534	c.533G>A	c.(532-534)cGc>cAc	p.R178H	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	118	Ig-like C2-type 2.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGCTTTGACGCGGATGTTGGG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	92	92			NA	NA	11		NA											NA				117651219		2201	4296	6497	SO:0001583	missense				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103	57453	57453		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	14656	protein-coding gene	gene with protein product		611782			NA	11453658	Standard	NM_020693	NM_020693	NA	Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.533G>A	11.37:g.117651219C>T	ENSP00000315465:p.Arg178His	NA	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	37	CCDS8384.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.48|10.48	1.363367|1.363367	0.24684|0.24684	.|.	.|.	ENSG00000177103|ENSG00000177103	ENST00000525836|ENST00000321322	.|T	.|0.39997	.|1.05	5.1|5.1	5.1|5.1	0.69264|0.69264	.|Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|.	.|.	.|.	.|.	T|T	0.19805|0.19805	0.0476|0.0476	N|N	0.01771|0.01771	-0.73|-0.73	0.80722|0.80722	D|D	1|1	.|B	.|0.09022	.|0.002	.|B	.|0.04013	.|0.001	T|T	0.14783|0.14783	-1.0460|-1.0460	6|9	0.87932|0.09843	D|T	0|0.71	.|.	18.9124|18.9124	0.92491|0.92491	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|118	.|Q8TD84	.|DSCL1_HUMAN	T|H	20|178	.|ENSP00000315465:R178H	ENSP00000436387:A20T|ENSP00000315465:R178H	A|R	-|-	1|2	0|0	DSCAML1|DSCAML1	117156429|117156429	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.436000|2.436000	0.44819|0.44819	2.536000|2.536000	0.85505|0.85505	0.563000|0.563000	0.77884|0.77884	GCG|CGC	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392907.2		-	ENST00000321322.6	Missense_Mutation	SNP	11 : 117651219 - 117651219 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	878	157
PHLPP2	23035	broad.mit.edu	37	16	71713307	71713307	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71713307A>G	ENST00000393524.2	-	6	1755	c.1022T>C	c.(1021-1023)aTt>aCt	p.I341T	PHLPP2_ENST00000568954.1_Missense_Mutation_p.I341T|PHLPP2_ENST00000356272.3_Missense_Mutation_p.I341T|PHLPP2_ENST00000360429.3_Missense_Mutation_p.I341T|PHLPP2_ENST00000567016.1_Missense_Mutation_p.I376T			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	341						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CAGATTGCCAATTTGACTTGG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	87	88			NA	NA	16		NA											NA				71713307		2198	4300	6498	SO:0001583	missense			BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199	23035	23035		Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent, Pleckstrin homology (PH) domain containing	29149	protein-coding gene	gene with protein product		611066	PH domain and leucine rich repeat protein phosphatase-like	PHLPPL	NA	17386267	Standard	NM_015020	NM_001289003	NA	Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000393524.2:c.1022T>C	16.37:g.71713307A>G	ENSP00000377159:p.Ile341Thr	NA	A1L374|Q9NV17|Q9Y2E3	37		.	.	.	.	.	.	.	.	.	.	A	18.64	3.667761	0.67814	.	.	ENSG00000040199	ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524;ENST00000538126	T;T;T	0.26067	1.76;1.76;1.76	6.03	6.03	0.97812	.	0.047074	0.85682	D	0.000000	T	0.52933	0.1765	M	0.80847	2.515	0.45528	D	0.998486	P;D	0.69078	0.949;0.997	P;D	0.65874	0.675;0.939	T	0.58132	-0.7690	10	0.87932	D	0	-20.5139	15.7393	0.77876	1.0:0.0:0.0:0.0	.	341;341	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	T	148;341;341;341;341	ENSP00000353610:I341T;ENSP00000348611:I341T;ENSP00000377159:I341T	ENSP00000299971:I148T	I	-	2	0	PHLPP2	70270808	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.079000	0.94032	2.308000	0.77769	0.533000	0.62120	ATT	PHLPP2-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000434140.1		-	ENST00000393524.2	Missense_Mutation	SNP	16 : 71713307 - 71713307 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	386	74
CACNG4	27092	broad.mit.edu	37	17	65026808	65026808	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65026808G>A	ENST00000262138.3	+	4	674	c.672G>A	c.(670-672)gcG>gcA	p.A224A		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	224					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	p.A224A(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			TCCTTAAGGCGTCTTCCTCTT	0.542		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)						G		0,4406		0,0,2203	81	84	83		672	-9.7	0.2	17		83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CACNG4	NM_014405.3		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		224/328	65026808	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AH008289	CCDS11667.1	17q24	2006-01-23				ENSG00000075461	27092	27092		Calcium channel subunits	1408	protein-coding gene	gene with protein product		606404			NA	10613843	Standard	NM_014405	NM_014405	NA	Approved	MGC11138, MGC24983	uc002jft.2	Q9UBN1		ENST00000262138.3:c.672G>A	17.37:g.65026808G>A		NA	B2RCK0	37	CCDS11667.1																																																																																			CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447036.1		+	ENST00000262138.3	Silent	SNP	17 : 65026808 - 65026808 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	735	119
PLXNB3	5365	broad.mit.edu	37	X	153038807	153038807	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153038807G>A	ENST00000361971.5	+	18	3143	c.3029G>A	c.(3028-3030)cGc>cAc	p.R1010H	PLXNB3_ENST00000538966.1_Missense_Mutation_p.R1033H|PLXNB3_ENST00000538776.1_Missense_Mutation_p.R663H|PLXNB3_ENST00000538282.1_Missense_Mutation_p.R620H	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1010	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCCCCTTCCGCTACACCGCC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG,HIS/ARG	0,3811		0,0,1626,559	32	26	28		3029,3098	-9.6	0.6	X		28	1,6716		0,1,2426,1863	no	missense,missense	PLXNB3	NM_005393.2,NM_001163257.1	29,29	0,1,4052,2422	AA,AG,GG,G	NA	0.0149,0.0,0.0095	benign,benign	1010/1910,1033/1933	153038807	1,10527	2185	4290	6475	SO:0001583	missense			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753	5365	5365		Plexins	9105	protein-coding gene	gene with protein product		300214		PLXN6	NA	10520995	Standard		NM_005393	NA	Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.3029G>A	X.37:g.153038807G>A	ENSP00000355378:p.Arg1010His	NA	Q9HDA4	37	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.286038	0.23478	0.0	1.49E-4	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	4.94	-9.61	0.00550	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.850231	0.10782	N	0.634810	T	0.50154	0.1599	N	0.11000	0.08	0.09310	N	1	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.09377	0.002;0.003;0.004	T	0.33979	-0.9847	10	0.40728	T	0.16	.	7.8288	0.29330	0.2055:0.0935:0.6149:0.0861	.	663;1033;1010	B7Z3H9;F5H773;Q9ULL4	.;.;PLXB3_HUMAN	H	1033;1010;663;620	ENSP00000442736:R1033H;ENSP00000355378:R1010H;ENSP00000445569:R663H;ENSP00000441919:R620H	ENSP00000355378:R1010H	R	+	2	0	PLXNB3	152692001	0.000000	0.05858	0.592000	0.28758	0.389000	0.30415	-0.818000	0.04467	-2.030000	0.00929	-0.422000	0.05995	CGC	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000061063.1		+	ENST00000361971.5	Missense_Mutation	SNP	X : 153038807 - 153038807 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	93	21
CACNA1E	777	broad.mit.edu	37	1	181762906	181762906	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181762906C>T	ENST00000367573.2	+	45	6004	c.6004C>T	c.(6004-6006)Cca>Tca	p.P2002S	CACNA1E_ENST00000357570.5_Missense_Mutation_p.P1953S|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P1983S|CACNA1E_ENST00000367567.4_Intron|CACNA1E_ENST00000367570.1_Intron|CACNA1E_ENST00000526775.1_Intron|CACNA1E_ENST00000358338.5_Intron	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2002					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ATCTTCTATGCCACGTCTGAC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	30	31			NA	NA	1		NA											NA				181762906		876	1991	2867	SO:0001583	missense			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216	777	777		Calcium channel subunits, Voltage-gated ion channels / Calcium channels, EF-hand domain containing	1392	protein-coding gene	gene with protein product		601013		CACNL1A6	NA	8388125, 16382099	Standard	NM_000721	NM_001205293	NA	Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6004C>T	1.37:g.181762906C>T	ENSP00000356545:p.Pro2002Ser	NA	B1AM12|B1AM13|B1AM14|Q14580|Q14581	37	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035955	0.93630	.	.	ENSG00000198216	ENST00000357570;ENST00000360108;ENST00000367573	D;D;D	0.99557	-6.15;-6.15;-6.16	5.8	5.8	0.92144	.	0.264086	0.37623	N	0.002001	D	0.99227	0.9731	L	0.42245	1.32	0.80722	D	1	.	.	.	.	.	.	D	0.99841	1.1062	8	0.62326	D	0.03	.	19.6581	0.95851	0.0:1.0:0.0:0.0	.	.	.	.	S	1953;1983;2002	ENSP00000350183:P1953S;ENSP00000353222:P1983S;ENSP00000356545:P2002S	ENSP00000350183:P1953S	P	+	1	0	CACNA1E	180029529	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.347000	0.73004	2.735000	0.93741	0.655000	0.94253	CCA	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090793.2		+	ENST00000367573.2	Missense_Mutation	SNP	1 : 181762906 - 181762906 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	104	25
CMYA5	202333	broad.mit.edu	37	5	79029439	79029439	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79029439G>T	ENST00000446378.2	+	2	4882	c.4851G>T	c.(4849-4851)gaG>gaT	p.E1617D		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1617						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTTTGGCAGAGCTGTCTTTGG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	96	96			NA	NA	5		NA											NA				79029439		1871	4105	5976	SO:0001583	missense			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309	202333	202333		Tripartite motif containing / Tripartite motif containing, A-kinase anchor proteins, Fibronectin type III domain containing	14305	protein-coding gene	gene with protein product	genethonin-3, tripartite motif-containing 76	612193	chromosome 5 open reading frame 10	C5orf10	NA	14688250	Standard	NM_153610	NM_153610	NA	Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.4851G>T	5.37:g.79029439G>T	ENSP00000394770:p.Glu1617Asp	NA	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	37	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.079586	0.36662	.	.	ENSG00000164309	ENST00000446378	T	0.03860	3.78	5.08	-2.29	0.06805	.	1.025470	0.07765	N	0.950714	T	0.03305	0.0096	L	0.29908	0.895	0.09310	N	1	B	0.23650	0.089	B	0.19946	0.027	T	0.47598	-0.9105	10	0.72032	D	0.01	.	0.5008	0.00579	0.2705:0.1329:0.326:0.2706	.	1617	Q8N3K9	CMYA5_HUMAN	D	1617	ENSP00000394770:E1617D	ENSP00000394770:E1617D	E	+	3	2	CMYA5	79065195	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.401000	0.07232	-0.064000	0.13043	-0.140000	0.14226	GAG	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369497.1		+	ENST00000446378.2	Missense_Mutation	SNP	5 : 79029439 - 79029439 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	571	122
ATAD3A	55210	broad.mit.edu	37	1	1459323	1459323	+	Silent	SNP	C	C	T	rs113640550	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1459323C>T	ENST00000378755.5	+	10	1306	c.1212C>T	c.(1210-1212)acC>acT	p.T404T	ATAD3A_ENST00000536055.1_Silent_p.T277T|ATAD3A_ENST00000378756.3_Silent_p.T356T	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	404							ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		CACCAGGCACCGGGAAGACGC	0.637		NA											c	18	0.01	0.04	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0082	1	LOWCOV,EXOME	NA	NA	0.0016	SNP								NA				0								C	,,	113,4293	85.3+/-124.0	2,109,2092	92	86	88		1068,831,1212	-9.4	0.1	1	dbSNP_132	88	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ATAD3A	NM_001170535.1,NM_001170536.1,NM_018188.3	,,	2,109,6392	TT,TC,CC	NA	0.0,2.5647,0.8688	,,	356/587,277/508,404/635	1459323	113,12893	2203	4300	6503	SO:0001819	synonymous_variant			AK025865	CCDS31.1, CCDS53259.1, CCDS53260.1	1p36.33	2010-04-21		2007-02-08	ENSG00000197785	ENSG00000197785	55210	55210		ATPases / AAA-type	25567	protein-coding gene	gene with protein product		612316			NA	12477932	Standard	NM_018188	NM_018188	NA	Approved	FLJ10709	uc001afz.2	Q9NVI7	OTTHUMG00000000575	ENST00000378755.5:c.1212C>T	1.37:g.1459323C>T		NA	Q5SV23|Q8N275|Q96A50	37	CCDS31.1	18	0.008241758241758242	18	0.036585365853658534	0	0.0	0	0.0	0	0.0	c	0.340	-0.951160	0.02285	0.025647	0.0	ENSG00000197785	ENST00000339113	.	.	.	4.7	-9.41	0.00613	.	.	.	.	.	T	0.13329	0.0323	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41698	-0.9494	4	.	.	.	.	4.3205	0.11015	0.0748:0.3435:0.2407:0.341	.	.	.	.	W	342	.	.	R	+	1	2	ATAD3A	1449186	0.000000	0.05858	0.063000	0.19743	0.076000	0.17211	-2.358000	0.01085	-2.405000	0.00575	-0.300000	0.09419	CGG	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000001365.1		+	ENST00000378755.5	Silent	SNP	1 : 1459323 - 1459323 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	493	52
SIX1	6495	broad.mit.edu	37	14	61115456	61115456	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61115456G>A	ENST00000554986.1	-	2	77				SIX1_ENST00000247182.6_Missense_Mutation_p.P151L			Q15475	SIX1_HUMAN	SIX homeobox 1	NA					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CTTCTCACGCGGCGATGGGTA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	51	52			NA	NA	14		NA											NA				61115456		2203	4300	6503	SO:0001627	intron_variant			X91868	CCDS9748.1	14q23.1	2011-06-20	2007-07-13		ENSG00000126778	ENSG00000126778	6495	6495		Homeoboxes / SINE class	10887	protein-coding gene	gene with protein product		601205	sine oculis homeobox (Drosophila) homolog 1, sine oculis homeobox homolog 1 (Drosophila), deafness, autosomal dominant 23	DFNA23	NA	8617500, 15141091	Standard		NM_005982	NA	Approved		uc001xfb.4	Q15475	OTTHUMG00000140334	ENST00000554986.1:c.42-2161C>T	14.37:g.61115456G>A		NA	Q96H64	37		.	.	.	.	.	.	.	.	.	.	G	34	5.344548	0.95807	.	.	ENSG00000126778	ENST00000247182	D	0.95918	-3.85	5.97	5.97	0.96955	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96917	0.8993	L	0.50919	1.6	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	D	0.97063	0.9772	10	0.87932	D	0	-26.2444	20.0189	0.97489	0.0:0.0:1.0:0.0	.	151	Q15475	SIX1_HUMAN	L	151	ENSP00000247182:P151L	ENSP00000247182:P151L	P	-	2	0	SIX1	60185209	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.797000	0.99108	2.828000	0.97474	0.655000	0.94253	CCG	SIX1-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000412199.3		-	ENST00000554986.1	Intron	SNP	14 : 61115456 - 61115456 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	278	55
RBL1	5933	broad.mit.edu	37	20	35696435	35696435	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35696435T>G	ENST00000373664.3	-	3	511	c.445A>C	c.(445-447)Aat>Cat	p.N149H	RBL1_ENST00000344359.3_Missense_Mutation_p.N149H	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	149					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TCATATGGATTTTGAAATATA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	72	70			NA	NA	20		NA											NA				35696435		2203	4298	6501	SO:0001583	missense			L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839	5933	5933			9893	protein-coding gene	gene with protein product		116957			NA	1833063	Standard	NM_002895	NM_183404	NA	Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.445A>C	20.37:g.35696435T>G	ENSP00000362768:p.Asn149His	NA	A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	37	CCDS13289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.19|15.19	2.759401|2.759401	0.49468|0.49468	.|.	.|.	ENSG00000080839|ENSG00000080839	ENST00000525052|ENST00000373664;ENST00000344359	.|T;T	.|0.73789	.|-0.78;-0.78	5.34|5.34	5.34|5.34	0.76211|0.76211	.|Domain of unknown function DUF3452, retinoblastoma-associated (1);	.|0.049235	.|0.85682	.|D	.|0.000000	D|D	0.82999|0.82999	0.5159|0.5159	L|L	0.57536|0.57536	1.79|1.79	0.54753|0.54753	D|D	0.999982|0.999982	.|D;B	.|0.89917	.|1.0;0.368	.|D;B	.|0.74348	.|0.983;0.275	T|T	0.82133|0.82133	-0.0608|-0.0608	5|10	.|0.37606	.|T	.|0.19	-9.9237|-9.9237	15.4744|15.4744	0.75465|0.75465	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|149;149	.|P28749-2;P28749	.|.;RBL1_HUMAN	N|H	8|149	.|ENSP00000362768:N149H;ENSP00000343646:N149H	.|ENSP00000343646:N149H	K|N	-|-	3|1	2|0	RBL1|RBL1	35129849|35129849	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.767000|2.767000	0.47637|0.47637	2.242000|2.242000	0.73789|0.73789	0.482000|0.482000	0.46254|0.46254	AAA|AAT	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079067.2		-	ENST00000373664.3	Missense_Mutation	SNP	20 : 35696435 - 35696435 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	498	80
CPA1	1357	broad.mit.edu	37	7	130022008	130022008	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130022008G>T	ENST00000011292.3	+	4	591	c.441G>T	c.(439-441)caG>caT	p.Q147H	CPA1_ENST00000484324.1_Missense_Mutation_p.Q59H	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	147					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GCAAGATCCAGATTGGCAACA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	104	114			NA	NA	7		NA											NA				130022008		2203	4300	6503	SO:0001583	missense				CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	1357	1357	3.4.17.1		2296	protein-coding gene	gene with protein product	pancreatic carboxypeptidase A	114850		CPA	NA		Standard	NM_001868	NM_001868	NA	Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.441G>T	7.37:g.130022008G>T	ENSP00000011292:p.Gln147His	NA	A4D1M1|Q53XU0|Q9BS67|Q9UCF2	37	CCDS5820.1	.	.	.	.	.	.	.	.	.	.	G	9.349	1.064932	0.20067	.	.	ENSG00000091704	ENST00000481342;ENST00000011292;ENST00000476062;ENST00000484324	T;T;T;T	0.10960	2.82;2.82;2.82;2.82	5.46	2.23	0.28157	Peptidase M14, carboxypeptidase A (2);	0.558393	0.20964	N	0.082509	T	0.08537	0.0212	L	0.37897	1.145	0.35752	D	0.819525	B;B	0.10296	0.002;0.003	B;B	0.13407	0.009;0.005	T	0.12016	-1.0564	10	0.40728	T	0.16	.	8.373	0.32425	0.0889:0.298:0.6131:0.0	.	59;147	B4DDW9;P15085	.;CBPA1_HUMAN	H	59;147;59;59	ENSP00000420218:Q59H;ENSP00000011292:Q147H;ENSP00000419408:Q59H;ENSP00000419497:Q59H	ENSP00000011292:Q147H	Q	+	3	2	CPA1	129809244	1.000000	0.71417	0.990000	0.47175	0.571000	0.35966	2.309000	0.43699	1.296000	0.44742	-0.305000	0.09177	CAG	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349736.2		+	ENST00000011292.3	Missense_Mutation	SNP	7 : 130022008 - 130022008 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	363	60
LSP1	4046	broad.mit.edu	37	11	1901374	1901374	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1901374G>T	ENST00000381775.1	+	3	603	c.495G>T	c.(493-495)caG>caT	p.Q165H	LSP1_ENST00000406638.2_5'UTR|LSP1_ENST00000311604.3_Missense_Mutation_p.Q37H|LSP1_ENST00000405957.2_5'UTR	NM_001242932.1	NP_001229861.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	37					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		AGCAATGCCAGCATGAGAGAG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	63	68			NA	NA	11		NA											NA				1901374		2202	4299	6501	SO:0001583	missense			M33552	CCDS31334.1, CCDS31335.1, CCDS58110.1	11p15.5	2008-02-05			ENSG00000130592	ENSG00000130592	4046	4046			6707	protein-coding gene	gene with protein product		153432			NA	2174784	Standard	NM_002339	NM_001242932	NA	Approved	WP34	uc001luj.3	P33241	OTTHUMG00000012252	ENST00000381775.1:c.495G>T	11.37:g.1901374G>T	ENSP00000371194:p.Gln165His	NA	Q16096|Q53H48|Q6FHM3|Q9BUY8	37	CCDS58110.1	.	.	.	.	.	.	.	.	.	.	.	13.98	2.400235	0.42613	.	.	ENSG00000130592	ENST00000311604;ENST00000381775;ENST00000457279;ENST00000429923;ENST00000418975	T;T;T;T;T	0.49139	1.86;1.79;1.86;1.4;0.79	3.24	-0.0138	0.13982	.	0.367615	0.15648	U	0.251555	T	0.30417	0.0764	L	0.36672	1.1	0.09310	N	0.999992	B;B	0.28512	0.214;0.07	B;B	0.22753	0.041;0.025	T	0.14392	-1.0474	10	0.51188	T	0.08	-12.2831	4.5777	0.12241	0.237:0.183:0.58:0.0	.	165;37	E9PFP3;P33241	.;LSP1_HUMAN	H	37;165;28;20;55	ENSP00000308383:Q37H;ENSP00000371194:Q165H;ENSP00000400346:Q28H;ENSP00000400999:Q20H;ENSP00000403460:Q55H	ENSP00000308383:Q37H	Q	+	3	2	LSP1	1857950	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.424000	0.07025	-0.097000	0.12307	0.491000	0.48974	CAG	LSP1-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034042.3		+	ENST00000381775.1	Missense_Mutation	SNP	11 : 1901374 - 1901374 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	257	45
RAF1	5894	broad.mit.edu	37	3	12626108	12626108	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12626108G>T	ENST00000251849.4	-	17	2291	c.1852C>A	c.(1852-1854)Cgg>Agg	p.R618R	RAF1_ENST00000534997.1_Silent_p.R403R|RAF1_ENST00000542177.1_Silent_p.R537R|RAF1_ENST00000442415.2_Silent_p.R638R	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	618					activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	GAAGCGCTCCGGTTGATCTTC	0.532		NA	T	SRGAP3	pilocytic astrocytoma				Noonan syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		3	3p25	5894	v-raf-1 murine leukemia viral oncogene homolog 1		M	0													142	125	131			NA	NA	3		NA											NA				12626108		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155	5894	5894			9829	protein-coding gene	gene with protein product	C-Raf proto-oncogene, serine/threonine kinase	164760	v-raf-1 murine leukemia viral oncogene homolog 1		NA	1611909	Standard	NM_002880	NM_002880	NA	Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.1852C>A	3.37:g.12626108G>T		NA	B0LPH8|B2R5N3|Q15278|Q9UC20	37	CCDS2612.1																																																																																			RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252015.2		-	ENST00000251849.4	Silent	SNP	3 : 12626108 - 12626108 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	64
KCNK9	51305	broad.mit.edu	37	8	140714976	140714976	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:140714976G>A	ENST00000520439.1	-	1	323	c.260C>T	c.(259-261)gCg>gTg	p.A87V	KCNK9_ENST00000303015.1_Missense_Mutation_p.A87V	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	87						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			GACCGTGATCGCAAAGTAGAA	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	34	34			NA	NA	8		NA											NA				140714976		2202	4299	6501	SO:0001583	missense			AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427	51305	51305		Potassium channels, Voltage-gated ion channels / Potassium channels, Two-P	6283	protein-coding gene	gene with protein product		605874			NA	10734076, 16382106	Standard	NM_016601	NM_001282534	NA	Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.260C>T	8.37:g.140714976G>A	ENSP00000430676:p.Ala87Val	NA	Q2M290|Q540F2	37	CCDS6377.1	.	.	.	.	.	.	.	.	.	.	G	32	5.164005	0.94727	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.28454	1.61;1.61;1.61	3.87	3.87	0.44632	Ion transport 2 (1);	0.000000	0.64402	D	0.000001	T	0.48259	0.1490	M	0.73430	2.235	0.80722	D	1	D	0.63880	0.993	P	0.55391	0.775	T	0.54200	-0.8329	10	0.46703	T	0.11	.	15.1508	0.72696	0.0:0.0:1.0:0.0	.	87	Q9NPC2	KCNK9_HUMAN	V	87	ENSP00000429847:A87V;ENSP00000302166:A87V;ENSP00000430676:A87V	ENSP00000302166:A87V	A	-	2	0	KCNK9	140784158	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.704000	0.91351	1.839000	0.53478	0.555000	0.69702	GCG	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378473.1		-	ENST00000520439.1	Missense_Mutation	SNP	8 : 140714976 - 140714976 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	143	7
POMC	5443	broad.mit.edu	37	2	25384073	25384073	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25384073G>T	ENST00000405623.1	-	3	1136	c.681C>A	c.(679-681)cgC>cgA	p.R227R	POMC_ENST00000380794.1_Silent_p.R227R|POMC_ENST00000395826.2_Silent_p.R227R|POMC_ENST00000264708.3_Silent_p.R227R			P01189	COLI_HUMAN	proopiomelanocortin	227					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	GGCTGCCCCAGCGGAAGTGCT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(110;1515 1566 8452 10082 43216)							NA				0													35	37	36			NA	NA	2		NA											NA				25384073		2203	4300	6503	SO:0001819	synonymous_variant				CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138	5443	5443		Endogenous ligands	9201	protein-coding gene	gene with protein product	adrenocorticotropin, beta-lipotropin, alpha-melanocyte stimulating hormone, beta-melanocyte stimulating hormone, beta-endorphin, adrenocorticotropic hormone, opiomelanocortin prepropeptide	176830			NA	6254047, 9620771	Standard	NM_001035256	NM_001035256	NA	Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.681C>A	2.37:g.25384073G>T		NA	P78442|Q9UD39|Q9UD40	37	CCDS1717.1																																																																																			POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000211573.3		-	ENST00000405623.1	Silent	SNP	2 : 25384073 - 25384073 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	305	39
CDC16	8881	broad.mit.edu	37	13	115002285	115002285	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:115002285G>T	ENST00000356221.3	+	3	223	c.115G>T	c.(115-117)Gac>Tac	p.D39Y	CDC16_ENST00000375308.1_5'UTR|CDC16_ENST00000252457.5_Missense_Mutation_p.D38Y|CDC16_ENST00000375312.3_5'UTR|CDC16_ENST00000360383.3_Missense_Mutation_p.D39Y|CDC16_ENST00000252458.6_5'UTR|CDC16_ENST00000375310.1_5'UTR			Q13042	CDC16_HUMAN	cell division cycle 16	39					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding			endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			AGAACCCCAGGACATCTATTG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	129	129			NA	NA	13		NA											NA				115002285		2203	4300	6503	SO:0001583	missense			U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177	8881	8881		Anaphase promoting complex subunits, Tetratricopeptide (TTC) repeat domain containing	1720	protein-coding gene	gene with protein product	anaphase-promoting complex, subunit 6	603461	CDC16 (cell division cycle 16, S. cerevisiae, homolog), CDC16 cell division cycle 16 homolog (S. cerevisiae), cell division cycle 16 homolog (S. cerevisiae)		NA	7736578	Standard	NM_003903	NM_001078645	NA	Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.115G>T	13.37:g.115002285G>T	ENSP00000348554:p.Asp39Tyr	NA	A2A365|Q5T8C8|Q96AE6|Q9Y564	37	CCDS9542.2	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126752	0.56721	.	.	ENSG00000130177	ENST00000360383;ENST00000356221;ENST00000252457	T;T;T	0.35973	1.28;1.28;1.28	5.43	5.43	0.79202	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.66752	0.2821	M	0.87328	2.875	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.988;0.992;0.989	T	0.70019	-0.4987	9	.	.	.	-6.0586	18.4048	0.90532	0.0:0.0:1.0:0.0	.	39;38;38;39	B4DK74;Q13042-3;Q13042-2;Q13042	.;.;.;CDC16_HUMAN	Y	39;39;38	ENSP00000353549:D39Y;ENSP00000348554:D39Y;ENSP00000252457:D38Y	.	D	+	1	0	CDC16	114020387	1.000000	0.71417	1.000000	0.80357	0.031000	0.12232	8.425000	0.90270	2.824000	0.97209	0.655000	0.94253	GAC	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276737.1		+	ENST00000356221.3	Missense_Mutation	SNP	13 : 115002285 - 115002285 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	718	121
TMEM214	54867	broad.mit.edu	37	2	27262629	27262629	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27262629C>A	ENST00000238788.9	+	14	1608	c.1546C>A	c.(1546-1548)Ctt>Att	p.L516I	TMEM214_ENST00000404032.3_Missense_Mutation_p.L471I	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	516						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TGGCCGGTTGCTTCGATCATC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	152	151			NA	NA	2		NA											NA				27262629		2049	4190	6239	SO:0001583	missense				CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777	54867	54867			25983	protein-coding gene	gene with protein product					NA	23661706	Standard	NM_017727	NM_001083590	NA	Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.1546C>A	2.37:g.27262629C>A	ENSP00000238788:p.Leu516Ile	NA	A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	37	CCDS42664.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937911	0.73557	.	.	ENSG00000119777	ENST00000238788;ENST00000404032;ENST00000537397;ENST00000444135	T;T;T	0.52983	0.64;0.64;0.64	5.59	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.65502	0.2697	M	0.76328	2.33	0.52501	D	0.999953	D;D	0.89917	1.0;1.0	D;D	0.81914	0.987;0.995	T	0.67975	-0.5531	10	0.72032	D	0.01	-12.0634	10.6416	0.45596	0.0:0.8766:0.0:0.1234	.	471;516	Q6NUQ4-2;Q6NUQ4	.;TM214_HUMAN	I	516;471;256;176	ENSP00000238788:L516I;ENSP00000384417:L471I;ENSP00000392442:L176I	ENSP00000238788:L516I	L	+	1	0	TMEM214	27116133	0.996000	0.38824	0.998000	0.56505	0.965000	0.64279	1.541000	0.36126	2.640000	0.89533	0.561000	0.74099	CTT	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324748.1		+	ENST00000238788.9	Missense_Mutation	SNP	2 : 27262629 - 27262629 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	669	174
GPM6A	2823	broad.mit.edu	37	4	176573004	176573004	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:176573004G>T	ENST00000280187.7	-	5	567	c.522C>A	c.(520-522)tgC>tgA	p.C174*	GPM6A_ENST00000393658.2_Nonsense_Mutation_p.C174*|GPM6A_ENST00000506894.1_Nonsense_Mutation_p.C163*|GPM6A_ENST00000515090.1_Nonsense_Mutation_p.C167*	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	174						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		GAAGGTCCAAGCAGAGATTTG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	136	139			NA	NA	4		NA											NA				176573004		2203	4300	6503	SO:0001587	stop_gained				CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625	2823	2823			4460	protein-coding gene	gene with protein product		601275		GPM6	NA	8661015, 18574501	Standard		NM_005277	NA	Approved		uc003iug.4	P51674		ENST00000280187.7:c.522C>A	4.37:g.176573004G>T	ENSP00000280187:p.Cys174*	NA	Q92602	37	CCDS3824.1	.	.	.	.	.	.	.	.	.	.	G	36	5.723191	0.96847	.	.	ENSG00000150625	ENST00000280187;ENST00000393658;ENST00000506894;ENST00000515090;ENST00000503397;ENST00000512610;ENST00000502754	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.9161	14.235	0.65919	0.0712:0.0:0.9288:0.0	.	.	.	.	X	174;174;163;167;166;111;111	.	ENSP00000280187:C174X	C	-	3	2	GPM6A	176809998	1.000000	0.71417	0.984000	0.44739	0.986000	0.74619	6.327000	0.72910	2.822000	0.97130	0.650000	0.86243	TGC	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362163.1		-	ENST00000280187.7	Nonsense_Mutation	SNP	4 : 176573004 - 176573004 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	491	71
DYNC1LI1	51143	broad.mit.edu	37	3	32572011	32572011	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32572011A>G	ENST00000273130.4	-	9	1185	c.1082T>C	c.(1081-1083)tTt>tCt	p.F361S	DYNC1LI1_ENST00000432458.2_Splice_Site_p.F245S	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	361					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						CTCATGTACAAACTGAAATGA	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	78	78			NA	NA	3		NA											NA				32572011		2203	4297	6500	SO:0001630	splice_region_variant			AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635	51143	51143		Cytoplasmic dyneins	18745	protein-coding gene	gene with protein product		615890	dynein, cytoplasmic, light intermediate polypeptide 1	DNCLI1	NA	16260502	Standard	NM_016141	NM_016141	NA	Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.1081-1T>C	3.37:g.32572011A>G		NA	A2RRG7|Q53HC8|Q53HK7	37	CCDS2654.1	.	.	.	.	.	.	.	.	.	.	A	14.11	2.437829	0.43326	.	.	ENSG00000144635	ENST00000273130;ENST00000432458	T;T	0.18960	2.18;2.18	5.95	5.95	0.96441	.	0.093290	0.85682	D	0.000000	T	0.14917	0.0360	N	0.12182	0.205	0.58432	D	0.999991	P;B	0.47191	0.891;0.007	B;B	0.43225	0.412;0.013	T	0.11743	-1.0575	10	0.21014	T	0.42	-17.4934	16.4069	0.83677	1.0:0.0:0.0:0.0	.	245;361	E9PHI6;Q9Y6G9	.;DC1L1_HUMAN	S	361;245	ENSP00000273130:F361S;ENSP00000407279:F245S	ENSP00000273130:F361S	F	-	2	0	DYNC1LI1	32547015	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.252000	0.78309	2.272000	0.75746	0.460000	0.39030	TTT	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253250.1	Missense_Mutation	-	ENST00000273130.4	Splice_Site	SNP	3 : 32572011 - 32572011 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	339	69
RGS8	85397	broad.mit.edu	37	1	182635136	182635136	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182635136G>A	ENST00000483095.2	-	5	418	c.161C>T	c.(160-162)gCa>gTa	p.A54V	RGS8_ENST00000367557.4_Missense_Mutation_p.A54V|RGS8_ENST00000367556.1_Missense_Mutation_p.A54V|RGS8_ENST00000258302.4_Missense_Mutation_p.A72V|RGS8_ENST00000491420.2_5'UTR			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	54					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						AAAGGAATCTGCCCACCTCGT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(189;1262 3804 41973)							NA				0													170	170	170			NA	NA	1		NA											NA				182635136		2203	4300	6503	SO:0001583	missense			AF297015	CCDS1349.1, CCDS41443.1	1q25	2008-07-18	2007-08-14		ENSG00000135824	ENSG00000135824	85397	85397		Regulators of G-protein signaling	16810	protein-coding gene	gene with protein product		607189	regulator of G-protein signalling 8		NA	11318611	Standard	NM_033345	NM_001102450	NA	Approved	MGC119067, MGC119068, MGC119069	uc001gpm.1	P57771	OTTHUMG00000035219	ENST00000483095.2:c.161C>T	1.37:g.182635136G>A	ENSP00000426289:p.Ala54Val	NA	B4DGL9|Q3SYD2	37	CCDS41443.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220884	0.58560	.	.	ENSG00000135824	ENST00000483095;ENST00000258302;ENST00000367557;ENST00000367556;ENST00000508450	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.47	5.47	0.80525	Regulator of G protein signalling (1);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.058699	0.64402	D	0.000002	T	0.32615	0.0835	L	0.61218	1.895	0.44862	D	0.997874	B;P	0.39424	0.398;0.673	B;B	0.37480	0.047;0.251	T	0.17228	-1.0376	10	0.66056	D	0.02	.	12.5654	0.56306	0.0:0.1673:0.8327:0.0	.	54;72	P57771;P57771-2	RGS8_HUMAN;.	V	54;72;54;54;54	ENSP00000426289:A54V;ENSP00000258302:A72V;ENSP00000356528:A54V;ENSP00000356527:A54V	ENSP00000258302:A72V	A	-	2	0	RGS8	180901759	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.191000	0.58372	2.561000	0.86390	0.655000	0.94253	GCA	RGS8-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358979.1		-	ENST00000483095.2	Missense_Mutation	SNP	1 : 182635136 - 182635136 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	647	125
PIP4K2A	5305	broad.mit.edu	37	10	23003205	23003205	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23003205C>A	ENST00000376573.4	-	1	279	c.51G>T	c.(49-51)aaG>aaT	p.K17N		NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	17							1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding	p.K17N(1)		endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						TCTTCTTGGTCTTGGTCTTGC	0.647		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)											87	79	82			NA	NA	10		NA											NA				23003205		2203	4300	6503	SO:0001583	missense			S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867	5305	5305			8997	protein-coding gene	gene with protein product		603140	phosphatidylinositol-4-phosphate 5-kinase, type II, alpha	PIP5K2A	NA	7852364, 9367159	Standard	NM_005028	NM_005028	NA	Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.51G>T	10.37:g.23003205C>A	ENSP00000365757:p.Lys17Asn	NA	B0YJ66|D3DRV1|P53807|Q5VUX3	37	CCDS7141.1	.	.	.	.	.	.	.	.	.	.	c	20.2	3.943268	0.73672	.	.	ENSG00000150867	ENST00000376573	T	0.48522	0.81	3.71	2.81	0.32909	.	0.000000	0.64402	U	0.000008	T	0.65375	0.2685	M	0.84846	2.72	0.80722	D	1	D	0.62365	0.991	P	0.61328	0.887	T	0.68465	-0.5401	10	0.62326	D	0.03	.	9.9501	0.41634	0.0:0.8969:0.0:0.1031	.	17	P48426	PI42A_HUMAN	N	17	ENSP00000365757:K17N	ENSP00000365757:K17N	K	-	3	2	PIP4K2A	23043211	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	2.370000	0.44240	0.812000	0.34326	0.274000	0.19336	AAG	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047193.1		-	ENST00000376573.4	Missense_Mutation	SNP	10 : 23003205 - 23003205 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	224	8
SERPINF2	5345	broad.mit.edu	37	17	1652003	1652003	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1652003G>A	ENST00000324015.3	+	8	904	c.827G>A	c.(826-828)cGc>cAc	p.R276H	SERPINF2_ENST00000382061.4_Missense_Mutation_p.R276H|SERPINF2_ENST00000450523.2_Missense_Mutation_p.R212H	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	276					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	TACCCGCTGCGCTGGTTCTTG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	89	90			NA	NA	17		NA											NA				1652003		2203	4300	6503	SO:0001583	missense			D00174	CCDS11011.1, CCDS54064.1	17p13.3	2014-02-18	2005-08-18		ENSG00000167711	ENSG00000167711	5345	5345		Serine (or cysteine) peptidase inhibitors	9075	protein-coding gene	gene with protein product	alpha-2-plasmin inhibitor, alpha-2-antiplasmin	613168	serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	PLI	NA	3416655, 24172014	Standard	NM_000934	NM_000934	NA	Approved	API, ALPHA-2-PI, A2AP, AAP	uc002ftk.1	P08697	OTTHUMG00000090552	ENST00000324015.3:c.827G>A	17.37:g.1652003G>A	ENSP00000321853:p.Arg276His	NA	Q8N5U7|Q9UCG2|Q9UCG3	37	CCDS11011.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.071902	0.36566	.	.	ENSG00000167711	ENST00000324015;ENST00000450523;ENST00000453723;ENST00000382061	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	4.95	2.97	0.34412	Serpin domain (3);	0.131813	0.64402	N	0.000003	T	0.78104	0.4231	L	0.49778	1.585	0.33688	D	0.612924	B;B	0.29378	0.243;0.097	B;B	0.18263	0.021;0.009	T	0.76686	-0.2868	9	.	.	.	.	11.6226	0.51126	0.1465:0.0:0.8535:0.0	.	212;276	B4E1B7;P08697	.;A2AP_HUMAN	H	276;212;160;276	ENSP00000321853:R276H;ENSP00000403877:R212H;ENSP00000402056:R160H;ENSP00000371493:R276H	.	R	+	2	0	SERPINF2	1598753	1.000000	0.71417	0.947000	0.38551	0.101000	0.19017	4.817000	0.62650	0.617000	0.30160	-0.244000	0.11960	CGC	SERPINF2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207078.3		+	ENST00000324015.3	Missense_Mutation	SNP	17 : 1652003 - 1652003 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	721	41
OGT	8473	broad.mit.edu	37	X	70777093	70777093	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70777093A>G	ENST00000373719.3	+	11	1586	c.1369A>G	c.(1369-1371)Aaa>Gaa	p.K457E	OGT_ENST00000373701.3_Missense_Mutation_p.K447E	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	457					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CACGGCTCTGAAACTTAAGCC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	52	54			NA	NA	X		NA											NA				70777093		2203	4300	6503	SO:0001583	missense			U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	8473	8473	2.4.1.255	Tetratricopeptide (TTC) repeat domain containing	8127	protein-coding gene	gene with protein product	UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase	300255	O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)		NA	9083068	Standard	NM_003605, NM_181672	NM_181672	NA	Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.1369A>G	X.37:g.70777093A>G	ENSP00000362824:p.Lys457Glu	NA	Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	37	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	A	19.71	3.879038	0.72294	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.15952	2.38;2.38	5.77	5.77	0.91146	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.18299	0.0439	N	0.04655	-0.195	0.80722	D	1	D;P;D	0.58620	0.983;0.615;0.966	D;B;P	0.64877	0.93;0.391;0.832	T	0.36744	-0.9735	10	0.16896	T	0.51	-38.1856	15.0385	0.71767	1.0:0.0:0.0:0.0	.	331;447;457	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	E	457;447	ENSP00000362824:K457E;ENSP00000362805:K447E	ENSP00000362805:K447E	K	+	1	0	OGT	70693818	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.266000	0.95659	1.934000	0.56057	0.481000	0.45027	AAA	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000081829.3		+	ENST00000373719.3	Missense_Mutation	SNP	X : 70777093 - 70777093 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	69	11
CHST5	23563	broad.mit.edu	37	16	75563056	75563056	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75563056C>T	ENST00000336257.3	-	3	2621	c.1227G>A	c.(1225-1227)tcG>tcA	p.S409S	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Silent_p.S415S	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	409					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CTCAGTCAGGCGATGCCCAGC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	25	27			NA	NA	16		NA											NA				75563056		2197	4298	6495	SO:0001819	synonymous_variant			AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702	23563	23563		Sulfotransferases, membrane-bound	1973	protein-coding gene	gene with protein product		604817			NA	10491328, 11017086	Standard	NM_012126	NM_024533	NA	Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.1227G>A	16.37:g.75563056C>T		NA	B2RV23|Q7LCN3|Q9UBY3	37	CCDS10919.1																																																																																			CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269025.2		-	ENST00000336257.3	Silent	SNP	16 : 75563056 - 75563056 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	209	12
SAMD9	54809	broad.mit.edu	37	7	92734899	92734899	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92734899T>A	ENST00000379958.2	-	3	781	c.512A>T	c.(511-513)aAt>aTt	p.N171I		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	171						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ACGATATGGATTACTGAATTC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	143	144			NA	NA	7		NA											NA				92734899		2203	4300	6503	SO:0001583	missense			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413	54809	54809		Sterile alpha motif (SAM) domain containing	1348	protein-coding gene	gene with protein product		610456	chromosome 7 open reading frame 5	C7orf5	NA		Standard	NM_017654	NM_017654	NA	Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.512A>T	7.37:g.92734899T>A	ENSP00000369292:p.Asn171Ile	NA	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	37	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	T	11.52	1.663551	0.29515	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.14391	2.51;2.51	4.7	3.53	0.40419	.	0.485095	0.17700	N	0.164974	T	0.07548	0.0190	N	0.14661	0.345	0.09310	N	1	B	0.20671	0.047	B	0.17098	0.017	T	0.25882	-1.0119	10	0.72032	D	0.01	.	4.973	0.14125	0.1622:0.089:0.0:0.7488	.	171	Q5K651	SAMD9_HUMAN	I	171	ENSP00000369292:N171I;ENSP00000414529:N171I	ENSP00000369292:N171I	N	-	2	0	SAMD9	92572835	0.002000	0.14202	0.020000	0.16555	0.966000	0.64601	0.554000	0.23407	0.934000	0.37316	0.491000	0.48974	AAT	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341761.1		-	ENST00000379958.2	Missense_Mutation	SNP	7 : 92734899 - 92734899 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	665	59
OVCH1	341350	broad.mit.edu	37	12	29644056	29644056	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29644056G>A	ENST00000318184.5	-	5	523	c.524C>T	c.(523-525)tCc>tTc	p.S175F		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	175	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CCATCCACTGGATAAGCAAAG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	129	131			NA	NA	12		NA											NA				29644056		1846	4093	5939	SO:0001583	missense			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950	341350	341350			23080	protein-coding gene	gene with protein product					NA	12838346	Standard	NM_183378	NM_183378	NA	Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.524C>T	12.37:g.29644056G>A	ENSP00000326708:p.Ser175Phe	NA		37		.	.	.	.	.	.	.	.	.	.	G	11.28	1.592696	0.28357	.	.	ENSG00000187950	ENST00000318184	D	0.92699	-3.09	2.47	0.599	0.17519	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.84037	0.5384	N	0.21194	0.64	0.09310	N	0.999997	B	0.24721	0.11	B	0.27500	0.08	T	0.73845	-0.3854	9	0.59425	D	0.04	.	4.6686	0.12678	0.3229:0.0:0.6771:0.0	.	175	Q7RTY7	OVCH1_HUMAN	F	175	ENSP00000326708:S175F	ENSP00000326708:S175F	S	-	2	0	OVCH1	29535323	0.757000	0.28394	0.327000	0.25402	0.064000	0.16182	0.845000	0.27668	0.150000	0.19136	-0.244000	0.11960	TCC	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000395997.2		-	ENST00000318184.5	Missense_Mutation	SNP	12 : 29644056 - 29644056 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	77
RBPJL	11317	broad.mit.edu	37	20	43944880	43944880	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43944880C>T	ENST00000343694.3	+	10	1146	c.1074C>T	c.(1072-1074)tgC>tgT	p.C358C	RBPJL_ENST00000372741.3_Silent_p.C358C|RBPJL_ENST00000464504.1_Intron|RBPJL_ENST00000372743.1_Silent_p.C358C	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	358					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				ACAGCTCTTGCTGGACCATCA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	88	90			NA	NA	20		NA											NA				43944880		2203	4300	6503	SO:0001819	synonymous_variant			AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232	11317	11317			13761	protein-coding gene	gene with protein product			recombining binding protein suppressor of hairless (Drosophila)-like	RBPSUHL	NA	9929984	Standard	NM_014276	NM_014276	NA	Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.1074C>T	20.37:g.43944880C>T		NA	O95723|Q5QPU9|Q5QPV0|Q9ULV9	37	CCDS13349.1																																																																																			RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080391.1		+	ENST00000343694.3	Silent	SNP	20 : 43944880 - 43944880 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	480	58
SLC6A3	6531	broad.mit.edu	37	5	1403077	1403077	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1403077G>A	ENST00000270349.9	-	13	1854	c.1727C>T	c.(1726-1728)gCg>gTg	p.A576V	SLC6A3_ENST00000453492.2_Missense_Mutation_p.A576V	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	576	Interaction with TGFB1I1.				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	CTTGTAGGCCGCATAGATGGG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	61	64			NA	NA	5		NA											NA				1403077		2203	4300	6503	SO:0001583	missense				CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319	6531	6531		Solute carriers	11049	protein-coding gene	gene with protein product	dopamine transporter	126455	solute carrier family 6 (neurotransmitter transporter, dopamine), member 3, dopamine transporter 1	DAT1	NA	1406597	Standard	NM_001044	NM_001044	NA	Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1727C>T	5.37:g.1403077G>A	ENSP00000270349:p.Ala576Val	NA	Q14996	37	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	g	16.65	3.181833	0.57800	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.75477	-0.94;-0.94	4.18	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.66416	0.2787	L	0.56769	1.78	0.80722	D	1	B	0.28783	0.222	B	0.27076	0.076	T	0.62077	-0.6930	10	0.06757	T	0.87	.	14.0283	0.64599	0.0:0.0:1.0:0.0	.	576	Q01959	SC6A3_HUMAN	V	576	ENSP00000270349:A576V;ENSP00000399806:A576V	ENSP00000270349:A576V	A	-	2	0	SLC6A3	1456077	1.000000	0.71417	0.110000	0.21437	0.909000	0.53808	6.701000	0.74624	1.905000	0.55150	0.298000	0.19748	GCG	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253650.3		-	ENST00000270349.9	Missense_Mutation	SNP	5 : 1403077 - 1403077 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	212	31
OR14A16	284532	broad.mit.edu	37	1	247978191	247978191	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247978191T>C	ENST00000357627.1	-	1	840	c.841A>G	c.(841-843)Acc>Gcc	p.T281A		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GGATTAAAGGTTGGGGGCAGC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(112;180 1586 15073 21914 33526)							NA				0													63	62	62			NA	NA	1		NA											NA				247978191		2203	4300	6503	SO:0001583	missense			BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772	284532	284532		GPCR / Class A : Olfactory receptors	15022	protein-coding gene	gene with protein product			olfactory receptor, family 5, subfamily AT, member 1	OR5AT1	NA		Standard	NM_001001966	NM_001001966	NA	Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.841A>G	1.37:g.247978191T>C	ENSP00000350248:p.Thr281Ala	NA	Q6IF96	37	CCDS31097.1	.	.	.	.	.	.	.	.	.	.	T	5.920	0.353733	0.11182	.	.	ENSG00000196772	ENST00000357627	T	0.34472	1.36	3.69	-6.23	0.02052	GPCR, rhodopsin-like superfamily (1);	0.484707	0.16856	U	0.196758	T	0.13884	0.0336	N	0.17674	0.51	0.09310	N	1	B	0.20671	0.047	B	0.18263	0.021	T	0.35076	-0.9803	10	0.07644	T	0.81	.	6.2342	0.20754	0.6221:0.1559:0.0:0.222	.	281	Q8NHC5	O14AG_HUMAN	A	281	ENSP00000350248:T281A	ENSP00000350248:T281A	T	-	1	0	OR14A16	246044814	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.457000	0.02374	-1.478000	0.01869	-1.447000	0.01057	ACC	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096856.1		-	ENST00000357627.1	Missense_Mutation	SNP	1 : 247978191 - 247978191 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	302	53
LRRCC1	85444	broad.mit.edu	37	8	86042165	86042165	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86042165C>A	ENST00000414626.2	+	10	2467	c.1578C>A	c.(1576-1578)atC>atA	p.I526I	LRRCC1_ENST00000360375.3_Silent_p.I546I			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	546					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TAAGACTGATCCAAGAGGTGG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	94	93			NA	NA	8		NA											NA				86042165		1824	4081	5905	SO:0001819	synonymous_variant			BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739	85444	85444			29373	protein-coding gene	gene with protein product	centrosomal leucine-rich repeat and coiled-coil containing protein, variable number of flagella 1 homolog (Chlamydomonas)		leucine rich repeat and coiled-coil domain containing 1		NA	11214970, 18728398	Standard	NM_033402	NM_033402	NA	Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000414626.2:c.1578C>A	8.37:g.86042165C>A		NA	B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	37		.	.	.	.	.	.	.	.	.	.	C	6.180	0.401444	0.11696	.	.	ENSG00000133739	ENST00000426019	.	.	.	5.27	1.93	0.25924	.	.	.	.	.	T	0.42921	0.1224	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.10660	-1.0620	5	0.21014	T	0.42	-0.2633	5.4284	0.16440	0.0:0.3821:0.1529:0.465	.	.	.	.	T	266	.	ENSP00000400370:P266T	P	+	1	0	LRRCC1	86229417	0.954000	0.32549	0.949000	0.38748	0.763000	0.43281	0.082000	0.14847	0.158000	0.19367	-0.345000	0.07892	CCA	LRRCC1-006	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000380272.1		+	ENST00000414626.2	Silent	SNP	8 : 86042165 - 86042165 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	590	96
STK31	56164	broad.mit.edu	37	7	23775265	23775265	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23775265G>A	ENST00000354639.3	+	7	987	c.523G>A	c.(523-525)Gat>Aat	p.D175N	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.D198N|STK31_ENST00000433467.2_Missense_Mutation_p.D198N|STK31_ENST00000428484.1_Missense_Mutation_p.D175N	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	198							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGGCAGTGTGGATATAGGGGA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	126	129			NA	NA	7		NA											NA				23775265		2203	4300	6503	SO:0001583	missense			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335	56164	56164		Tudor domain containing	11407	protein-coding gene	gene with protein product		605790			NA	11279525	Standard	NM_031414	NM_031414	NA	Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000354639.3:c.523G>A	7.37:g.23775265G>A	ENSP00000346660:p.Asp175Asn	NA	B7WPP5|Q6PCD3|Q9BXH8	37	CCDS43556.1	.	.	.	.	.	.	.	.	.	.	g	23.7	4.449376	0.84101	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.16	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.42765	0.1217	L	0.34521	1.04	0.43255	D	0.99518	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.32322	-0.9911	10	0.72032	D	0.01	-19.5725	12.3752	0.55275	0.0841:0.0:0.9159:0.0	.	198;198	B4DZ06;Q9BXU1	.;STK31_HUMAN	N	198;198;175;175	ENSP00000348132:D198N;ENSP00000411852:D198N;ENSP00000346660:D175N;ENSP00000406146:D175N	ENSP00000346660:D175N	D	+	1	0	STK31	23741790	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.680000	0.61656	2.557000	0.86248	0.467000	0.42956	GAT	STK31-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326723.1		+	ENST00000354639.3	Missense_Mutation	SNP	7 : 23775265 - 23775265 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	686	129
CMYA5	202333	broad.mit.edu	37	5	79034527	79034527	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79034527C>T	ENST00000446378.2	+	2	9970	c.9939C>T	c.(9937-9939)acC>acT	p.T3313T		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3313						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATGTGGAGACCGTTGGTAACG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	112	111			NA	NA	5		NA											NA				79034527		2037	4187	6224	SO:0001819	synonymous_variant			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309	202333	202333		Tripartite motif containing / Tripartite motif containing, A-kinase anchor proteins, Fibronectin type III domain containing	14305	protein-coding gene	gene with protein product	genethonin-3, tripartite motif-containing 76	612193	chromosome 5 open reading frame 10	C5orf10	NA	14688250	Standard	NM_153610	NM_153610	NA	Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.9939C>T	5.37:g.79034527C>T		NA	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	37	CCDS47238.1																																																																																			CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369497.1		+	ENST00000446378.2	Silent	SNP	5 : 79034527 - 79034527 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	469	86
TENM1	10178	broad.mit.edu	37	X	123514421	123514421	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:123514421G>T	ENST00000371130.3	-	31	8206	c.8143C>A	c.(8143-8145)Cac>Aac	p.H2715N	TENM1_ENST00000422452.2_Missense_Mutation_p.H2722N|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2			teneurin transmembrane protein 1	NA											NA						CTCATAAAGTGAATATTATTG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	94	95			NA	NA	X		NA											NA				123514421		2203	4300	6503	SO:0001583	missense			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694	10178	10178			8117	protein-coding gene	gene with protein product		300588	tenascin M, odz, odd Oz/ten-m homolog 1 (Drosophila)	ODZ3, TNM, ODZ1	NA	10331952, 10341219	Standard	NM_014253	NM_001163278	NA	Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.8143C>A	X.37:g.123514421G>T	ENSP00000360171:p.His2715Asn	NA		37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703967	0.68501	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.85339	-1.97;-1.94	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.91408	0.7289	M	0.61703	1.905	0.80722	D	1	D;D;D	0.63880	0.993;0.985;0.965	D;P;P	0.70227	0.968;0.787;0.72	D	0.91575	0.5274	10	0.59425	D	0.04	.	18.9144	0.92499	0.0:0.0:1.0:0.0	.	2721;2722;2715	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	N	2715;2722	ENSP00000360171:H2715N;ENSP00000403954:H2722N	ENSP00000360171:H2715N	H	-	1	0	ODZ1	123342102	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.414000	0.81942	0.538000	0.68166	CAC	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058985.1		-	ENST00000371130.3	Missense_Mutation	SNP	X : 123514421 - 123514421 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	348	83
TLE2	7089	broad.mit.edu	37	19	3008916	3008916	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3008916G>A	ENST00000262953.6	-	14	1463	c.1201C>T	c.(1201-1203)Cga>Tga	p.R401*	TLE2_ENST00000455444.2_Nonsense_Mutation_p.R279*|TLE2_ENST00000443826.3_Nonsense_Mutation_p.R279*|TLE2_ENST00000591529.1_Nonsense_Mutation_p.R415*|TLE2_ENST00000426948.2_Nonsense_Mutation_p.R415*|TLE2_ENST00000590536.1_Nonsense_Mutation_p.R402*|TLE2_ENST00000447365.2_Nonsense_Mutation_p.R68*|TLE2_ENST00000586422.1_Intron	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	401					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		GATGACCCTCGGAGATGGGGA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	56	53			NA	NA	19		NA											NA				3008916		2020	4173	6193	SO:0001587	stop_gained			M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07				7089	7089		WD repeat domain containing	11838	protein-coding gene	gene with protein product	enhancer of split groucho 2	601041	transducin-like enhancer of split 2, homolog of Drosophila E(sp1), transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)		NA	8808280	Standard	NM_003260	NM_003260	NA	Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.1201C>T	19.37:g.3008916G>A	ENSP00000262953:p.Arg401*	NA	Q8WVY0|Q9Y6S0	37	CCDS45911.1	.	.	.	.	.	.	.	.	.	.	g	45	11.444582	0.99562	.	.	ENSG00000065717	ENST00000262953;ENST00000455444;ENST00000450017;ENST00000447365;ENST00000443826;ENST00000426948;ENST00000439015	.	.	.	3.99	3.99	0.46301	.	0.116373	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.8716	9.2923	0.37793	0.0:0.0:0.7855:0.2145	.	.	.	.	X	401;279;395;68;279;415;309	.	ENSP00000262953:R401X	R	-	1	2	TLE2	2959916	1.000000	0.71417	0.946000	0.38457	0.532000	0.34746	0.437000	0.21543	2.512000	0.84698	0.549000	0.68633	CGA	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452194.2		-	ENST00000262953.6	Nonsense_Mutation	SNP	19 : 3008916 - 3008916 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	43	5
FAM129B	64855	broad.mit.edu	37	9	130269465	130269465	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130269465G>A	ENST00000373312.3	-	14	2113	c.1900C>T	c.(1900-1902)Ccc>Tcc	p.P634S	FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Missense_Mutation_p.P621S	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	634							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GCCTCAAAGGGCAGCCCCACC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	26	27			NA	NA	9		NA											NA				130269465		2201	4299	6500	SO:0001583	missense			AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830	64855	64855			25282	protein-coding gene	gene with protein product		614045	chromosome 9 open reading frame 88	C9orf88	NA	14702039, 19362540	Standard	NM_022833	XM_005252135	NA	Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.1900C>T	9.37:g.130269465G>A	ENSP00000362409:p.Pro634Ser	NA	Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	37	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237203	0.39498	.	.	ENSG00000136830	ENST00000373314;ENST00000538931;ENST00000373312	T;T	0.24538	1.85;1.85	5.25	3.38	0.38709	.	0.053669	0.85682	N	0.000000	T	0.32194	0.0821	L	0.34521	1.04	0.40266	D	0.978236	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.12016	-1.0564	10	0.40728	T	0.16	-27.8978	4.6178	0.12435	0.1807:0.0:0.644:0.1753	.	621;634	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	S	621;284;634	ENSP00000362411:P621S;ENSP00000362409:P634S	ENSP00000362409:P634S	P	-	1	0	FAM129B	129309286	1.000000	0.71417	0.997000	0.53966	0.027000	0.11550	4.216000	0.58540	1.344000	0.45657	-0.291000	0.09656	CCC	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054196.1		-	ENST00000373312.3	Missense_Mutation	SNP	9 : 130269465 - 130269465 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	145	26
CSF1	1435	broad.mit.edu	37	1	110466000	110466000	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110466000C>T	ENST00000329608.6	+	6	1148	c.757C>T	c.(757-759)Cca>Tca	p.P253S	CSF1_ENST00000344188.5_Missense_Mutation_p.P253S|CSF1_ENST00000369802.3_Missense_Mutation_p.P253S|CSF1_ENST00000369801.1_Missense_Mutation_p.P253S|CSF1_ENST00000420111.2_Intron	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	253					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAAGCAGCGGCCACCCAGGAG	0.652		NA									OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	47	45			NA	NA	1		NA											NA				110466000		2203	4300	6503	SO:0001583	missense			BC021117	CCDS816.1, CCDS817.1, CCDS30797.1	1p13.3	2012-09-20			ENSG00000184371	ENSG00000184371	1435	1435			2432	protein-coding gene	gene with protein product		120420			NA	1540160	Standard	NM_000757	NM_172210	NA	Approved	M-CSF, MCSF, MGC31930	uc001dyw.4	P09603	OTTHUMG00000011646	ENST00000329608.6:c.757C>T	1.37:g.110466000C>T	ENSP00000327513:p.Pro253Ser	1427	A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8	37	CCDS816.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164293	0.38217	.	.	ENSG00000184371	ENST00000344188;ENST00000329608;ENST00000488198;ENST00000369802;ENST00000369801	T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13	4.42	3.43	0.39272	.	0.298004	0.23547	N	0.047009	T	0.46386	0.1390	M	0.63428	1.95	0.32806	D	0.500822	D;D	0.76494	0.999;0.999	D;D	0.72982	0.979;0.96	T	0.34551	-0.9824	10	0.32370	T	0.25	.	12.0079	0.53270	0.0:0.8257:0.1743:0.0	.	253;253	P09603;P09603-2	CSF1_HUMAN;.	S	253;253;212;253;253	ENSP00000342718:P253S;ENSP00000327513:P253S;ENSP00000433837:P212S;ENSP00000358817:P253S;ENSP00000358816:P253S	ENSP00000327513:P253S	P	+	1	0	CSF1	110267523	0.587000	0.26791	1.000000	0.80357	0.353000	0.29299	0.357000	0.20199	2.152000	0.67230	0.313000	0.20887	CCA	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032208.1		+	ENST00000329608.6	Missense_Mutation	SNP	1 : 110466000 - 110466000 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	433	57
EGLN2	112398	broad.mit.edu	37	19	41306816	41306816	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41306816G>T	ENST00000593726.1	+	1	1367	c.339G>T	c.(337-339)cgG>cgT	p.R113R	EGLN2_ENST00000303961.4_Silent_p.R113R|RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000406058.2_Silent_p.R113R			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	113					cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	AGGGCGCACGGCCTGAGGCCC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	14	14			NA	NA	19		NA											NA				41306816		2193	4290	6483	SO:0001819	synonymous_variant			AJ310544	CCDS12567.1	19q13.2	2013-08-21	2013-08-21		ENSG00000269858	ENSG00000269858	112398	112398			14660	protein-coding gene	gene with protein product	HIF prolyl hydroxylase 1	606424	EGL nine (C.elegans) homolog 2, egl nine homolog 2 (C. elegans)		NA		Standard		NM_080732	NA	Approved	PHD1, HIFPH1	uc002oph.3	Q96KS0		ENST00000593726.1:c.339G>T	19.37:g.41306816G>T		NA	A8K5S0|Q8WWY4|Q9BV14	37	CCDS12567.1																																																																																			EGLN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463218.1		+	ENST00000593726.1	Silent	SNP	19 : 41306816 - 41306816 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	114	11
ADCY3	109	broad.mit.edu	37	2	25141705	25141705	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25141705C>T	ENST00000260600.5	-	1	1003	c.152G>A	c.(151-153)cGc>cAc	p.R51H		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	51					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CCGCATGAAGCGAGGCAGGCA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	45	44			NA	NA	2		NA											NA				25141705		2203	4300	6503	SO:0001583	missense			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	109	109	4.6.1.1	Adenylate cyclases	234	protein-coding gene	gene with protein product		600291			NA	9920776	Standard		NM_004036	NA	Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.152G>A	2.37:g.25141705C>T	ENSP00000260600:p.Arg51His	NA	Q53T54|Q9UDB1	37	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403834	0.62288	.	.	ENSG00000138031	ENST00000260600;ENST00000415879;ENST00000435135;ENST00000438445	T;T;T	0.80738	-1.41;-1.02;0.65	4.27	3.37	0.38596	.	0.198405	0.45126	D	0.000381	T	0.72011	0.3408	L	0.51422	1.61	0.80722	D	1	P;P	0.40332	0.713;0.713	B;B	0.35114	0.182;0.196	T	0.74312	-0.3706	10	0.44086	T	0.13	.	11.2568	0.49058	0.0:0.907:0.0:0.0929	.	51;51	B7ZLX9;O60266	.;ADCY3_HUMAN	H	51;26;51;51	ENSP00000260600:R51H;ENSP00000389799:R51H;ENSP00000406153:R51H	ENSP00000260600:R51H	R	-	2	0	ADCY3	24995209	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	2.815000	0.48018	2.211000	0.71520	0.563000	0.77884	CGC	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000211574.2		-	ENST00000260600.5	Missense_Mutation	SNP	2 : 25141705 - 25141705 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	393	24
ABI3BP	25890	broad.mit.edu	37	3	100569529	100569529	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100569529A>G	ENST00000471714.1	-	16	1531	c.1422T>C	c.(1420-1422)acT>acC	p.T474T	ABI3BP_ENST00000495063.1_Silent_p.T474T|ABI3BP_ENST00000284322.5_Silent_p.T425T			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	427	Pro-rich.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GCTGTTCAAGAGTTCTAGAAG	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	127	128			NA	NA	3		NA											NA				100569529		1807	4070	5877	SO:0001819	synonymous_variant			AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175	25890	25890		Fibronectin type III domain containing	17265	protein-coding gene	gene with protein product	target of Nesh-SH3	606279			NA	11501947	Standard		NM_015429	NA	Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000471714.1:c.1422T>C	3.37:g.100569529A>G		NA	B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.425|9.425	1.084092|1.084092	0.20309|0.20309	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000533855|ENST00000459682	.|.	.|.	.|.	5.87|5.87	3.32|3.32	0.38043|0.38043	.|.	.|.	.|.	.|.	.|.	T|T	0.60314|0.60314	0.2259|0.2259	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.57505|0.57505	-0.7800|-0.7800	4|4	.|.	.|.	.|.	-11.1312|-11.1312	10.663|10.663	0.45712|0.45712	0.7473:0.0:0.0:0.2526|0.7473:0.0:0.0:0.2526	.|.	.|.	.|.	.|.	P|P	103|51	.|.	.|.	L|S	-|-	2|1	0|0	ABI3BP|ABI3BP	102052219|102052219	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.996000|2.996000	0.49449|0.49449	1.131000|1.131000	0.42111|0.42111	0.533000|0.533000	0.62120|0.62120	CTC|TCT	ABI3BP-002	NOVEL	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000353261.1		-	ENST00000471714.1	Silent	SNP	3 : 100569529 - 100569529 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	309	64
ESYT3	83850	broad.mit.edu	37	3	138191410	138191410	+	Missense_Mutation	SNP	G	G	A	rs147770352	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138191410G>A	ENST00000389567.4	+	18	2132	c.1946G>A	c.(1945-1947)aGt>aAt	p.S649N		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	649						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						ACCACCACCAGTGCTACCACC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	154	149			NA	NA	3		NA											NA				138191410		2094	4221	6315	SO:0001583	missense			AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220	83850	83850		Synaptotagmins	24295	protein-coding gene	gene with protein product			family with sequence similarity 62 (C2 domain containing), member C	FAM62C	NA	11543631, 17672888	Standard	NM_031913	NM_031913	NA	Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.1946G>A	3.37:g.138191410G>A	ENSP00000374218:p.Ser649Asn	NA	A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	37	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	G	2.209	-0.381065	0.05000	.	.	ENSG00000158220	ENST00000389567	T	0.38887	1.11	3.35	2.35	0.29111	.	2.072220	0.02129	N	0.056260	T	0.35278	0.0926	L	0.36672	1.1	0.19575	N	0.999969	B	0.02656	0.0	B	0.04013	0.001	T	0.15665	-1.0429	10	0.18710	T	0.47	-0.1719	9.3357	0.38049	0.0:0.0:0.7719:0.2281	.	649	A0FGR9	ESYT3_HUMAN	N	649	ENSP00000374218:S649N	ENSP00000374218:S649N	S	+	2	0	ESYT3	139674100	0.143000	0.22626	0.094000	0.20943	0.717000	0.41224	0.770000	0.26618	1.713000	0.51359	0.462000	0.41574	AGT	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000303993.1		+	ENST00000389567.4	Missense_Mutation	SNP	3 : 138191410 - 138191410 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	829	155
DNAJC2	27000	broad.mit.edu	37	7	102967077	102967077	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102967077G>T	ENST00000379263.3	-	5	735	c.485C>A	c.(484-486)cCt>cAt	p.P162H	DNAJC2_ENST00000249270.7_Missense_Mutation_p.P162H|PMPCB_ENST00000420236.2_Intron	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	162	ZRF1-UBD.				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						ATCAAAAGTAGGATCTACACT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	85	88			NA	NA	7		NA											NA				102967077		1849	4089	5938	SO:0001583	missense			X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821	27000	27000		Heat shock proteins / DNAJ (HSP40)	13192	protein-coding gene	gene with protein product		605502	zuotin related factor 1	ZRF1	NA	8885239	Standard		NM_001129887	NA	Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.485C>A	7.37:g.102967077G>T	ENSP00000368565:p.Pro162His	NA	A4VCI0|Q9BVX1	37	CCDS43628.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.257838|4.257838	0.80246|0.80246	.|.	.|.	ENSG00000105821|ENSG00000105821	ENST00000426036|ENST00000249270;ENST00000379263;ENST00000537811;ENST00000454277	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.097634	.|0.64402	.|D	.|0.000001	D|D	0.83631|0.83631	0.5296|0.5296	M|M	0.81614|0.81614	2.55|2.55	0.80722|0.80722	D|D	1|1	.|P;D	.|0.89917	.|0.684;1.0	.|P;D	.|0.87578	.|0.511;0.998	D|D	0.84601|0.84601	0.0672|0.0672	5|9	.|0.72032	.|D	.|0.01	-18.9832|-18.9832	19.7069|19.7069	0.96076|0.96076	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|162;162	.|Q99543-2;Q99543	.|.;DNJC2_HUMAN	I|H	151|162;162;162;88	.|.	.|ENSP00000249270:P162H	L|P	-|-	1|2	2|0	DNAJC2|DNAJC2	102754313|102754313	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.955000|8.955000	0.93058|0.93058	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	CTA|CCT	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347891.1		-	ENST00000379263.3	Missense_Mutation	SNP	7 : 102967077 - 102967077 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	235	36
SYNE2	23224	broad.mit.edu	37	14	64496734	64496734	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64496734C>A	ENST00000554584.1	+	43	6887	c.6836C>A	c.(6835-6837)cCt>cAt	p.P2279H	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.P2279H|SYNE2_ENST00000344113.4_Missense_Mutation_p.P2279H			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2279					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCTGATAAGCCTGTGGATCAA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	67	68			NA	NA	14		NA											NA				64496734		1840	4082	5922	SO:0001583	missense			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654	23224	23224			17084	protein-coding gene	gene with protein product	nuclear envelope spectrin repeat-2, nucleus and actin connecting element	608442			NA	10231032, 10878022	Standard	NM_182914	NM_182910	NA	Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000554584.1:c.6836C>A	14.37:g.64496734C>A	ENSP00000452570:p.Pro2279His	NA	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	37		.	.	.	.	.	.	.	.	.	.	C	11.34	1.609305	0.28623	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.36878	1.23;1.23;1.23	5.03	3.17	0.36434	.	0.856008	0.10108	N	0.715018	T	0.33818	0.0876	N	0.24115	0.695	0.19945	N	0.999941	D;D	0.61697	0.983;0.99	P;P	0.56474	0.635;0.799	T	0.05550	-1.0878	10	0.07813	T	0.8	.	9.4087	0.38477	0.0:0.8198:0.0:0.1802	.	2279;2279	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	H	2279	ENSP00000350719:P2279H;ENSP00000341781:P2279H;ENSP00000452570:P2279H	ENSP00000261678:P2279H	P	+	2	0	SYNE2	63566487	0.014000	0.17966	0.009000	0.14445	0.889000	0.51656	2.798000	0.47884	1.249000	0.43950	0.655000	0.94253	CCT	SYNE2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000411905.1		+	ENST00000554584.1	Missense_Mutation	SNP	14 : 64496734 - 64496734 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	229	42
HERC2	8924	broad.mit.edu	37	15	28360609	28360609	+	Missense_Mutation	SNP	G	G	T	rs28548731		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28360609G>T	ENST00000261609.7	-	89	13796	c.13688C>A	c.(13687-13689)gCt>gAt	p.A4563D		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4563	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCTCATCCCAGCCAGCTGCTT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	57	60			NA	NA	15		NA											NA				28360609		2203	4300	6503	SO:0001583	missense			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731	8924	8924			4868	protein-coding gene	gene with protein product		605837	hect domain and RLD 2		NA	9949213	Standard	NM_004667	NM_004667	NA	Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.13688C>A	15.37:g.28360609G>T	ENSP00000261609:p.Ala4563Asp	NA	Q86SV7|Q86SV8|Q86SV9|Q86YY3|Q86YY4|Q86YY5|Q86YY6|Q86YY7|Q86YY8|Q86YY9|Q86YZ0|Q86YZ1	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	36	5.687309	0.96784	.	.	ENSG00000128731	ENST00000261609	T	0.58506	0.33	5.56	5.56	0.83823	HECT (4);	0.000000	0.85682	D	0.000000	T	0.78572	0.4304	M	0.79805	2.47	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.72982	0.979;0.972	T	0.81004	-0.1129	10	0.87932	D	0	.	19.5343	0.95242	0.0:0.0:1.0:0.0	.	4563;252	O95714;Q8ND39	HERC2_HUMAN;.	D	4563	ENSP00000261609:A4563D	ENSP00000261609:A4563D	A	-	2	0	HERC2	26034204	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.860000	0.99555	2.601000	0.87937	0.655000	0.94253	GCT	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251358.2		-	ENST00000261609.7	Missense_Mutation	SNP	15 : 28360609 - 28360609 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	255	43
HECW1	23072	broad.mit.edu	37	7	43484460	43484460	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43484460C>T	ENST00000453890.1	+	10	2013	c.1689C>T	c.(1687-1689)atC>atT	p.I563I	HECW1_ENST00000395891.2_Silent_p.I563I			Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	563					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACATCCGCATCCACACCCTGC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	48	46			NA	NA	7		NA											NA				43484460		2125	4232	6357	SO:0001819	synonymous_variant			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746	23072	23072			22195	protein-coding gene	gene with protein product		610384			NA	12690205, 14684739	Standard	NM_015052	XM_005249665	NA	Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000453890.1:c.1689C>T	7.37:g.43484460C>T		NA	A7E2X0|A8MYS3|O15036|Q9HCC7	37																																																																																				HECW1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000338775.1		+	ENST00000453890.1	Silent	SNP	7 : 43484460 - 43484460 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	548	85
LRRTM3	347731	broad.mit.edu	37	10	68687299	68687299	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:68687299G>A	ENST00000361320.4	+	2	1203	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	209						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CAGACTCAAAGAACTTCACCT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	102	101			NA	NA	10		NA											NA				68687299		2203	4300	6503	SO:0001583	missense			BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739	347731	347731			19410	protein-coding gene	gene with protein product		610869			NA	12676565	Standard	NM_178011	XR_247527	NA	Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.625G>A	10.37:g.68687299G>A	ENSP00000355187:p.Glu209Lys	NA	A8K2A3|Q2NKX7|Q6N0A3	37	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798719	0.70567	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.57907	0.37	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000007	T	0.67429	0.2892	L	0.46819	1.47	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.994;0.999	T	0.65796	-0.6081	10	0.44086	T	0.13	.	17.9918	0.89171	0.0:0.0:1.0:0.0	.	209;209	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	K	209	ENSP00000355187:E209K	ENSP00000355187:E209K	E	+	1	0	LRRTM3	68357305	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.538000	0.85594	0.650000	0.86243	GAA	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048277.2		+	ENST00000361320.4	Missense_Mutation	SNP	10 : 68687299 - 68687299 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	670	97
SRMS	6725	broad.mit.edu	37	20	62178461	62178461	+	Splice_Site	SNP	G	G	A	rs143524113	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62178461G>A	ENST00000217188.1	-	1	396	c.356C>T	c.(355-357)cCc>cTc	p.P119L		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	119							ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AGGTACTCACGGTTGGTCTGA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	LEU/PRO	8,4398	12.9+/-30.5	0,8,2195	49	54	52		356	2.3	0.8	20	dbSNP_134	52	0,8598		0,0,4299	yes	missense-near-splice	SRMS	NM_080823.2	98	0,8,6494	AA,AG,GG	NA	0.0,0.1816,0.0615	probably-damaging	119/489	62178461	8,12996	2203	4299	6502	SO:0001630	splice_region_variant				CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508	6725	6725		SH2 domain containing	11298	protein-coding gene	gene with protein product			chromosome 20 open reading frame 148	C20orf148	NA	7935409	Standard	NM_080823	NM_080823	NA	Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.356+1C>T	20.37:g.62178461G>A		NA		37	CCDS13525.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942287	0.53079	0.001816	0.0	ENSG00000125508	ENST00000217188	T	0.29142	1.58	4.34	2.3	0.28687	Src homology-3 domain (1);SH2 motif (2);	0.251627	0.28082	N	0.016680	T	0.26268	0.0641	M	0.66939	2.045	0.80722	D	1	P	0.37914	0.611	B	0.32022	0.139	T	0.02983	-1.1086	9	.	.	.	.	8.5409	0.33393	0.0839:0.0:0.7645:0.1517	.	119	Q9H3Y6	SRMS_HUMAN	L	119	ENSP00000217188:P119L	.	P	-	2	0	SRMS	61648905	1.000000	0.71417	0.800000	0.32199	0.928000	0.56348	1.731000	0.38135	0.249000	0.21456	0.491000	0.48974	CCC	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080148.1	Missense_Mutation	-	ENST00000217188.1	Splice_Site	SNP	20 : 62178461 - 62178461 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	10
NREP	9315	broad.mit.edu	37	5	111071197	111071197	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:111071197T>C	ENST00000379671.3	-	4	275	c.11A>G	c.(10-12)tAc>tGc	p.Y4C	NREP_ENST00000455559.2_Missense_Mutation_p.Y4C|NREP_ENST00000453526.2_Missense_Mutation_p.Y4C|NREP_ENST00000395634.3_Missense_Mutation_p.Y48C|NREP_ENST00000508870.1_Missense_Mutation_p.Y4C|NREP_ENST00000450761.2_Missense_Mutation_p.Y4C|NREP_ENST00000257435.7_Missense_Mutation_p.Y4C|NREP_ENST00000507742.1_5'UTR|STARD4-AS1_ENST00000500779.2_RNA|NREP_ENST00000509427.1_Missense_Mutation_p.Y4C|NREP_ENST00000446294.2_Missense_Mutation_p.Y4C|NREP_ENST00000419114.2_Missense_Mutation_p.Y4C|NREP_ENST00000509979.1_Missense_Mutation_p.Y4C|NREP_ENST00000509025.1_Missense_Mutation_p.Y4C|NREP_ENST00000515855.1_Missense_Mutation_p.Y4C|NREP_ENST00000447165.2_Missense_Mutation_p.Y4C	NM_001142478.1	NP_001135950.1	Q16612	NP311_HUMAN	neuronal regeneration related protein	4						cytoplasm					NA						GAGTTCTGGGTAATAAACCTA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	89	89			NA	NA	5		NA											NA				111071197		2202	4300	6502	SO:0001583	missense			AF119859	CCDS4105.1, CCDS47255.1	5q22.1	2012-12-07	2012-12-07	2012-01-23	ENSG00000134986	ENSG00000134986	9315	9315			16834	protein-coding gene	gene with protein product	neuronal protein 3.1	607332	chromosome 5 open reading frame 13, neuronal regeneration related protein homolog (rat)	C5orf13	NA	8261136, 10981724, 15485502	Standard	NM_004772	NM_004772	NA	Approved	P311, D4S114, PRO1873, PTZ17, SEZ17	uc011cvr.2	Q16612	OTTHUMG00000128795	ENST00000379671.3:c.11A>G	5.37:g.111071197T>C	ENSP00000368993:p.Tyr4Cys	NA	B2RDN8|D3DSZ8	37	CCDS4105.1	.	.	.	.	.	.	.	.	.	.	T	11.16	1.555628	0.27739	.	.	ENSG00000134986	ENST00000509025;ENST00000379671;ENST00000257435;ENST00000447165;ENST00000446294;ENST00000395634;ENST00000515855;ENST00000509979;ENST00000450761;ENST00000419114;ENST00000509427;ENST00000453526;ENST00000455559;ENST00000508870;ENST00000513100;ENST00000508161;ENST00000507032	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.31	4.11	0.48088	.	0.398139	0.21371	N	0.075628	T	0.39410	0.1077	.	.	.	0.34410	D	0.696253	B;B;B	0.29378	0.243;0.243;0.031	B;B;B	0.33799	0.17;0.17;0.031	T	0.49254	-0.8959	9	0.34782	T	0.22	-1.824	9.4843	0.38919	0.0:0.0815:0.0:0.9185	.	4;48;4	D6RIC9;B7Z5D2;Q16612	.;.;NP311_HUMAN	C	4;4;4;4;4;48;4;4;4;4;4;4;4;4;4;4;4	ENSP00000426834:Y4C;ENSP00000368993:Y4C;ENSP00000257435:Y4C;ENSP00000408839:Y4C;ENSP00000402965:Y4C;ENSP00000378996:Y48C;ENSP00000422278:Y4C;ENSP00000423320:Y4C;ENSP00000416617:Y4C;ENSP00000399766:Y4C;ENSP00000422630:Y4C;ENSP00000403383:Y4C;ENSP00000392559:Y4C;ENSP00000427149:Y4C;ENSP00000427476:Y4C;ENSP00000422046:Y4C	ENSP00000257435:Y4C	Y	-	2	0	C5orf13	111099096	1.000000	0.71417	0.961000	0.40146	0.628000	0.37860	2.011000	0.40922	0.935000	0.37341	0.533000	0.62120	TAC	NREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250722.1		-	ENST00000379671.3	Missense_Mutation	SNP	5 : 111071197 - 111071197 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	14
ALDH16A1	126133	broad.mit.edu	37	19	49969029	49969029	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49969029C>T	ENST00000293350.4	+	13	1766	c.1603C>T	c.(1603-1605)Cgt>Tgt	p.R535C	ALDH16A1_ENST00000433981.2_Missense_Mutation_p.R370C|CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.R484C|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.R372C	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	535							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CGTTGGGGGCCGTTTCCAGGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	41	47	45		1450,1603	3.9	1	19		45	0,8600		0,0,4300	no	missense,missense	ALDH16A1	NM_001145396.1,NM_153329.3	180,180	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging	484/752,535/803	49969029	1,13005	2203	4300	6503	SO:0001583	missense			AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618	126133	126133		Aldehyde dehydrogenases	28114	protein-coding gene	gene with protein product		613358			NA		Standard	NM_153329	NM_153329	NA	Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.1603C>T	19.37:g.49969029C>T	ENSP00000293350:p.Arg535Cys	NA	C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	37	CCDS12766.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249887	0.80024	2.27E-4	0.0	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.05	3.94	0.45596	Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.723110	0.13548	N	0.379647	T	0.28797	0.0714	N	0.08118	0	0.43226	D	0.995112	D;D;D	0.69078	0.996;0.996;0.997	P;P;P	0.56278	0.795;0.53;0.628	T	0.20438	-1.0275	10	0.87932	D	0	-19.8971	11.934	0.52864	0.1745:0.8255:0.0:0.0	.	372;484;535	F5H4B6;B4DLQ1;Q8IZ83	.;.;A16A1_HUMAN	C	535;484;372;370	ENSP00000293350:R535C;ENSP00000410142:R484C;ENSP00000445088:R372C;ENSP00000398675:R370C	ENSP00000293350:R535C	R	+	1	0	ALDH16A1	54660841	0.637000	0.27216	1.000000	0.80357	0.990000	0.78478	1.559000	0.36320	2.349000	0.79799	0.561000	0.74099	CGT	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465358.1		+	ENST00000293350.4	Missense_Mutation	SNP	19 : 49969029 - 49969029 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	475	101
RFC1	5981	broad.mit.edu	37	4	39310294	39310294	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39310294C>T	ENST00000381897.1	-	13	1980	c.1847G>A	c.(1846-1848)cGa>cAa	p.R616Q	RFC1_ENST00000349703.2_Missense_Mutation_p.R616Q	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	616					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TTGCCAGTTTCGGAGCCAGCG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)							NA				0													148	155	153			NA	NA	4		NA											NA				39310294		2203	4300	6503	SO:0001583	missense			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928	5981	5981		ATPases / AAA-type	9969	protein-coding gene	gene with protein product		102579	replication factor C (activator 1) 1 (145kD)		NA	8114700	Standard	NM_002913	NM_002913	NA	Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.1847G>A	4.37:g.39310294C>T	ENSP00000371321:p.Arg616Gln	NA	A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	37	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071495	0.36566	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.17370	2.28;2.28	5.91	3.03	0.35002	.	0.309163	0.32416	N	0.006135	T	0.06735	0.0172	N	0.05199	-0.095	0.29184	N	0.876329	B;B	0.16802	0.005;0.019	B;B	0.14023	0.004;0.01	T	0.32640	-0.9899	10	0.15952	T	0.53	-2.8818	6.7029	0.23234	0.0:0.5824:0.0:0.4176	.	616;616	P35251;P35251-2	RFC1_HUMAN;.	Q	616	ENSP00000371321:R616Q;ENSP00000261424:R616Q	ENSP00000261424:R616Q	R	-	2	0	RFC1	38986689	0.208000	0.23494	0.998000	0.56505	0.976000	0.68499	0.502000	0.22594	0.706000	0.31912	0.655000	0.94253	CGA	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216808.1		-	ENST00000381897.1	Missense_Mutation	SNP	4 : 39310294 - 39310294 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1034	185
HELZ	9931	broad.mit.edu	37	17	65083046	65083046	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65083046A>C	ENST00000358691.5	-	32	5559	c.5393T>G	c.(5392-5394)tTt>tGt	p.F1798C	HELZ_ENST00000580168.1_Missense_Mutation_p.F1799C	NM_014877.3	NP_055692			helicase with zinc finger	NA										NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CGGGGATGAAAAGTTGAAAGA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	155	153			NA	NA	17		NA											NA				65083046		2031	4194	6225	SO:0001583	missense			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265	9931	9931		Zinc fingers, CCCH-type domain containing	16878	protein-coding gene	gene with protein product	down-regulated in human cancers	606699			NA	10471385, 12691822	Standard	NM_014877	NM_014877	NA	Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.5393T>G	17.37:g.65083046A>C	ENSP00000351524:p.Phe1798Cys	NA		37	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	A	12.84	2.059441	0.36373	.	.	ENSG00000198265	ENST00000358691	D	0.84800	-1.9	5.7	4.59	0.56863	.	0.053448	0.85682	D	0.000000	T	0.75213	0.3819	N	0.14661	0.345	0.39299	D	0.964868	D;D	0.57257	0.979;0.979	P;P	0.46362	0.514;0.514	T	0.79391	-0.1823	10	0.87932	D	0	-17.7225	8.4921	0.33106	0.608:0.0:0.0:0.392	.	1799;1798	B7ZLW2;P42694	.;HELZ_HUMAN	C	1798	ENSP00000351524:F1798C	ENSP00000351524:F1798C	F	-	2	0	HELZ	62513508	1.000000	0.71417	0.981000	0.43875	0.990000	0.78478	4.895000	0.63214	2.166000	0.68216	0.528000	0.53228	TTT	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447068.1		-	ENST00000358691.5	Missense_Mutation	SNP	17 : 65083046 - 65083046 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	636	116
WIPF1	7456	broad.mit.edu	37	2	175439979	175439979	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:175439979A>G	ENST00000410117.1	-	4	517	c.311T>C	c.(310-312)tTc>tCc	p.F104S	WIPF1_ENST00000409891.1_Missense_Mutation_p.F104S|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000392546.2_Missense_Mutation_p.F104S|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000409415.3_Missense_Mutation_p.F104S|WIPF1_ENST00000359761.3_Missense_Mutation_p.F104S|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.F104S|WIPF1_ENST00000392547.2_Missense_Mutation_p.F104S			O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	104					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						TCCAGCCTGGAACAATCCTCC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	127	128			NA	NA	2		NA											NA				175439979		2203	4300	6503	SO:0001583	missense			AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935	7456	7456			12736	protein-coding gene	gene with protein product		602357	Wiskott-Aldrich syndrome protein interacting protein	WASPIP	NA	9405671	Standard	NM_003387	NM_001077269	NA	Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000410117.1:c.311T>C	2.37:g.175439979A>G	ENSP00000386757:p.Phe104Ser	NA	B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	37		.	.	.	.	.	.	.	.	.	.	A	29.1	4.977920	0.92982	.	.	ENSG00000115935	ENST00000392547;ENST00000392548;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891;ENST00000409415;ENST00000455428;ENST00000410117	D;D;D;D;D;D;T;T	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;2.58;2.58	5.55	5.55	0.83447	.	0.054881	0.64402	D	0.000001	D	0.93726	0.7995	M	0.84326	2.69	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.85130	0.997;0.996;0.997;0.994	D	0.94433	0.7651	10	0.66056	D	0.02	.	15.7042	0.77565	1.0:0.0:0.0:0.0	.	104;104;104;104	O43516-3;E9PB87;O43516-2;O43516	.;.;.;WIPF1_HUMAN	S	104;104;104;104;104;104;104;101;104	ENSP00000376330:F104S;ENSP00000272746:F104S;ENSP00000352802:F104S;ENSP00000376329:F104S;ENSP00000386431:F104S;ENSP00000387150:F104S;ENSP00000391785:F101S;ENSP00000386757:F104S	ENSP00000272746:F104S	F	-	2	0	WIPF1	175148225	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.123000	0.89586	2.113000	0.64589	0.379000	0.24179	TTC	WIPF1-016	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000334143.1		-	ENST00000410117.1	Missense_Mutation	SNP	2 : 175439979 - 175439979 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1122	319
RLF	6018	broad.mit.edu	37	1	40702892	40702892	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40702892C>A	ENST00000372771.4	+	8	2545	c.2518C>A	c.(2518-2520)Ctt>Att	p.L840I		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	840					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			ATCAGTGAAACTTGAGGAGTC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	41	41			NA	NA	1		NA											NA				40702892		2203	4300	6503	SO:0001583	missense				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000	6018	6018		Zinc fingers, C2H2-type	10025	protein-coding gene	gene with protein product		180610	rearranged L-myc fusion sequence		NA	1649386	Standard	NM_012421	NM_012421	NA	Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.2518C>A	1.37:g.40702892C>A	ENSP00000361857:p.Leu840Ile	NA	Q14CQ1|Q9NU60	37	CCDS448.1	.	.	.	.	.	.	.	.	.	.	C	1.635	-0.518082	0.04171	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.15372	2.43	5.65	3.72	0.42706	.	0.431666	0.27586	N	0.018704	T	0.12178	0.0296	L	0.38838	1.175	0.28583	N	0.910047	B;B	0.09022	0.001;0.002	B;B	0.11329	0.003;0.006	T	0.13629	-1.0502	10	0.22706	T	0.39	-3.5999	8.1302	0.31022	0.0:0.733:0.1318:0.1352	.	533;840	F5H2M5;Q13129	.;RLF_HUMAN	I	840;533	ENSP00000361857:L840I	ENSP00000361857:L840I	L	+	1	0	RLF	40475479	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.488000	0.35551	1.586000	0.49944	0.655000	0.94253	CTT	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000015767.1		+	ENST00000372771.4	Missense_Mutation	SNP	1 : 40702892 - 40702892 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	225	46
PAFAH1B3	5050	broad.mit.edu	37	19	42804140	42804140	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42804140C>A	ENST00000262890.3	-	4	651	c.390G>T	c.(388-390)caG>caT	p.Q130H	PAFAH1B3_ENST00000538771.1_Missense_Mutation_p.Q130H	NM_002573.3	NP_002564.1	Q15102	PA1B3_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)	130					lipid catabolic process|nervous system development	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|protein binding			breast(1)|large_intestine(2)|ovary(1)	4		Prostate(69;0.0704)				CAACCCGGGCCTGGGGCTGTC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	120	122			NA	NA	19		NA											NA				42804140		2203	4300	6503	SO:0001583	missense			D63391	CCDS12602.1	19q13.1	2011-10-24	2010-02-10			ENSG00000079462	5050	5050			8576	protein-coding gene	gene with protein product	PAF-AH1b alpha 1 subunit	603074	platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit (29kD), platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit 29kDa, platelet-activating factor acetylhydrolase, isoform Ib, subunit 3 (29kDa)		NA	7669037	Standard	NM_002573	NM_002573	NA	Approved		uc010xwj.1	Q15102		ENST00000262890.3:c.390G>T	19.37:g.42804140C>A	ENSP00000262890:p.Gln130His	NA	Q53X88	37	CCDS12602.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241555	0.39598	.	.	ENSG00000079462	ENST00000538771;ENST00000262890	T;T	0.42900	0.96;0.96	5.59	3.42	0.39159	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	0.230320	0.44483	N	0.000445	T	0.32912	0.0845	L	0.61387	1.9	0.41722	D	0.989517	B	0.32425	0.371	B	0.26969	0.075	T	0.11792	-1.0573	10	0.36615	T	0.2	-25.9708	5.0651	0.14578	0.1687:0.6609:0.0:0.1704	.	130	Q15102	PA1B3_HUMAN	H	130	ENSP00000444935:Q130H;ENSP00000262890:Q130H	ENSP00000262890:Q130H	Q	-	3	2	PAFAH1B3	47495980	0.997000	0.39634	1.000000	0.80357	0.986000	0.74619	0.531000	0.23052	0.687000	0.31509	0.563000	0.77884	CAG	PAFAH1B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463726.1		-	ENST00000262890.3	Missense_Mutation	SNP	19 : 42804140 - 42804140 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	765	18
GAS2L2	246176	broad.mit.edu	37	17	34073243	34073243	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34073243T>A	ENST00000254466.6	-	6	1300	c.1273A>T	c.(1273-1275)Aca>Tca	p.T425S	GAS2L2_ENST00000587565.1_Missense_Mutation_p.T409S	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	425					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAGCTGTCTGTTTCTTCATGA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	138	134			NA	NA	17		NA											NA				34073243		2203	4300	6503	SO:0001583	missense			AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765	246176	246176			24846	protein-coding gene	gene with protein product		611398			NA	12584248	Standard	NM_139285	NM_139285	NA	Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1273A>T	17.37:g.34073243T>A	ENSP00000254466:p.Thr425Ser	NA	Q8NHY4	37	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	T	5.545	0.285394	0.10513	.	.	ENSG00000132139	ENST00000254466	T	0.18016	2.24	4.97	2.76	0.32466	.	0.820742	0.10977	N	0.613112	T	0.11836	0.0288	L	0.51422	1.61	0.09310	N	1	P	0.35077	0.483	B	0.30943	0.122	T	0.27938	-1.0059	10	0.10377	T	0.69	-0.3814	3.8482	0.08943	0.0:0.1962:0.1864:0.6173	.	425	Q8NHY3	GA2L2_HUMAN	S	425	ENSP00000254466:T425S	ENSP00000254466:T425S	T	-	1	0	GAS2L2	31097356	0.000000	0.05858	0.002000	0.10522	0.057000	0.15508	-0.053000	0.11846	0.496000	0.27904	0.533000	0.62120	ACA	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256497.1		-	ENST00000254466.6	Missense_Mutation	SNP	17 : 34073243 - 34073243 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1046	110
C1orf74	148304	broad.mit.edu	37	1	209956447	209956447	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209956447C>T	ENST00000294811.1	-	2	789	c.533G>A	c.(532-534)gGc>gAc	p.G178D		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	178										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		AACAGGATAGCCCAGGAGGAT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	110	108			NA	NA	1		NA											NA				209956447		2203	4300	6503	SO:0001583	missense			AK057807	CCDS1491.1	1q32.2	2008-02-05			ENSG00000162757	ENSG00000162757	148304	148304			26319	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152485	NM_152485	NA	Approved	FLJ25078	uc001hhp.1	Q96LT6	OTTHUMG00000036483	ENST00000294811.1:c.533G>A	1.37:g.209956447C>T	ENSP00000294811:p.Gly178Asp	NA		37	CCDS1491.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131307	0.77549	.	.	ENSG00000162757	ENST00000294811	T	0.57752	0.38	5.27	5.27	0.74061	.	0.120074	0.56097	D	0.000026	T	0.70631	0.3246	M	0.75264	2.295	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.73260	-0.4039	10	0.62326	D	0.03	-20.993	12.2654	0.54674	0.0:0.922:0.0:0.078	.	178	Q96LT6	CA074_HUMAN	D	178	ENSP00000294811:G178D	ENSP00000294811:G178D	G	-	2	0	C1orf74	208023070	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.448000	0.66612	2.460000	0.83146	0.655000	0.94253	GGC	C1orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088745.1		-	ENST00000294811.1	Missense_Mutation	SNP	1 : 209956447 - 209956447 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	503	141
SLC44A5	204962	broad.mit.edu	37	1	75704231	75704231	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75704231G>A	ENST00000370855.5	-	10	736	c.623C>T	c.(622-624)aCa>aTa	p.T208I	SLC44A5_ENST00000535611.1_Missense_Mutation_p.T78I|SLC44A5_ENST00000370859.3_Missense_Mutation_p.T208I	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	208						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AACACTTCTTGTCCCTCCATT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													188	161	170			NA	NA	1		NA											NA				75704231		2203	4300	6503	SO:0001583	missense			BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968	204962	204962		Solute carriers	28524	protein-coding gene	gene with protein product					NA	15715662	Standard	NM_152697	NM_152697	NA	Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.623C>T	1.37:g.75704231G>A	ENSP00000359892:p.Thr208Ile	NA	B5MCU3|Q4G0K0|Q8NA44|Q8NB86	37	CCDS667.1	.	.	.	.	.	.	.	.	.	.	G	6.363	0.435159	0.12045	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.14766	2.87;2.86;2.48	4.9	-1.86	0.07760	.	1.053510	0.07321	N	0.877559	T	0.02848	0.0085	L	0.39085	1.19	0.09310	N	1	B;B;B;B;B	0.16603	0.001;0.01;0.004;0.007;0.018	B;B;B;B;B	0.17979	0.003;0.005;0.003;0.02;0.012	T	0.46555	-0.9183	10	0.33141	T	0.24	0.6744	4.3939	0.11353	0.3631:0.0:0.3885:0.2484	.	202;247;208;208;247	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	I	208;247;208;78;201	ENSP00000359896:T208I;ENSP00000359892:T208I;ENSP00000443090:T78I	ENSP00000359892:T208I	T	-	2	0	SLC44A5	75476819	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	-0.285000	0.08410	-0.293000	0.08986	-0.218000	0.12543	ACA	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026921.1		-	ENST00000370855.5	Missense_Mutation	SNP	1 : 75704231 - 75704231 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	67
ZNF91	7644	broad.mit.edu	37	19	23545140	23545140	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23545140T>G	ENST00000300619.7	-	4	846	c.641A>C	c.(640-642)gAa>gCa	p.E214A	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.E182A	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	214						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				NA		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTTTTCACATTCTTTACATTT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	77	76			NA	NA	19		NA											NA				23545140		2129	4266	6395	SO:0001583	missense			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232	7644	7644		Zinc fingers, C2H2-type, -	13166	protein-coding gene	gene with protein product		603971	zinc finger protein 91 (HPF7, HTF10)		NA	2023909, 2505992	Standard	NM_003430	XR_430154	NA	Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.641A>C	19.37:g.23545140T>G	ENSP00000300619:p.Glu214Ala	NA	A8K5E1|B7Z6G6	37	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	T	6.550	0.469727	0.12461	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.16897	2.31;2.31	1.64	0.397	0.16314	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24470	0.0593	M	0.88377	2.95	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.10450	0.005;0.002	T	0.30090	-0.9990	9	0.66056	D	0.02	.	6.3699	0.21475	0.0:0.0:0.2523:0.7477	.	182;214	Q05481-2;Q05481	.;ZNF91_HUMAN	A	214;182	ENSP00000300619:E214A;ENSP00000380272:E182A	ENSP00000300619:E214A	E	-	2	0	ZNF91	23336980	0.000000	0.05858	0.012000	0.15200	0.012000	0.07955	0.261000	0.18442	-0.159000	0.11021	0.147000	0.16070	GAA	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465891.1		-	ENST00000300619.7	Missense_Mutation	SNP	19 : 23545140 - 23545140 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	282	10
TTN	7273	broad.mit.edu	37	2	179418655	179418655	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179418655G>A	ENST00000589042.1	-	333	89407	c.89183C>T	c.(89182-89184)gCt>gTt	p.A29728V	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A28087V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A20788V|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A20663V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A27160V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A20855V|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28087	Fibronectin type-III 116.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGATCAGCAGCTTTGTAGAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	62	62			NA	NA	2		NA											NA				179418655		1925	4139	6064	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.89183C>T	2.37:g.179418655G>A	ENSP00000467141:p.Ala29728Val	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673021	0.88445	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.61	5.61	0.85477	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70491	0.3230	L	0.55834	1.745	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.994;0.994;0.994;0.994	T	0.71331	-0.4625	9	0.87932	D	0	.	20.0018	0.97417	0.0:0.0:1.0:0.0	.	20663;20788;20855;28087	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	27160;20663;20855;20788;20660	ENSP00000343764:A27160V;ENSP00000434586:A20663V;ENSP00000340554:A20855V;ENSP00000352154:A20788V	ENSP00000340554:A20855V	A	-	2	0	TTN	179126901	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.837000	0.99465	2.793000	0.96121	0.655000	0.94253	GCT	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179418655 - 179418655 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	240	43
DYSF	8291	broad.mit.edu	37	2	71797772	71797772	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71797772G>A	ENST00000258104.3	+	29	3352	c.3075G>A	c.(3073-3075)aaG>aaA	p.K1025K	DYSF_ENST00000410041.1_Silent_p.K1043K|DYSF_ENST00000409744.1_Silent_p.K1012K|DYSF_ENST00000413539.2_Silent_p.K1056K|DYSF_ENST00000410020.3_Silent_p.K1043K|DYSF_ENST00000429174.2_Silent_p.K1025K|DYSF_ENST00000409651.1_Silent_p.K1057K|DYSF_ENST00000409582.3_Silent_p.K1042K|DYSF_ENST00000409366.1_Silent_p.K1026K|DYSF_ENST00000409762.1_Silent_p.K1042K|DYSF_ENST00000394120.2_Silent_p.K1026K	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1025						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGAAGCCGAAGCACTGGGTCC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	62	62			NA	NA	2		NA											NA				71797772		2201	4300	6501	SO:0001819	synonymous_variant			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636	8291	8291			3097	protein-coding gene	gene with protein product	fer-1-like family member 1	603009	limb girdle muscular dystrophy 2B (autosomal recessive)	LGMD2B	NA	8320700	Standard	NM_003494	NM_003494	NA	Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3075G>A	2.37:g.71797772G>A		NA	B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	37	CCDS1918.1																																																																																			DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251970.3		+	ENST00000258104.3	Silent	SNP	2 : 71797772 - 71797772 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	220	48
ABCA9	10350	broad.mit.edu	37	17	67012395	67012395	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67012395T>C	ENST00000340001.4	-	22	3249	c.3038A>G	c.(3037-3039)gAa>gGa	p.E1013G	ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000453985.2_Splice_Site_p.E1013G|ABCA9_ENST00000370732.2_Splice_Site_p.E1013G	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1013					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TATACTTACTTCAAAAAATGT	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	75	74			NA	NA	17		NA											NA				67012395		2203	4300	6503	SO:0001630	splice_region_variant			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258	10350	10350		ATP binding cassette transporters / subfamily A	39	protein-coding gene	gene with protein product		612507			NA		Standard	NM_172386	XM_005256934	NA	Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.3039+1A>G	17.37:g.67012395T>C		NA	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	37	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	T	2.146	-0.395629	0.04899	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.87729	-2.29;-2.29	5.1	1.41	0.22369	.	0.315900	0.21806	N	0.068845	T	0.79488	0.4454	L	0.55834	1.745	0.19575	N	0.999967	B;B	0.12013	0.004;0.005	B;B	0.15052	0.007;0.012	T	0.61860	-0.6976	10	0.22706	T	0.39	.	4.7522	0.13066	0.2888:0.0834:0.0:0.6278	.	1013;1013	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	G	1013;996;1013;1008	ENSP00000342216:E1013G;ENSP00000359767:E1013G	ENSP00000342216:E1013G	E	-	2	0	ABCA9	64523990	0.000000	0.05858	0.995000	0.50966	0.008000	0.06430	-0.336000	0.07863	0.274000	0.22072	-0.468000	0.05107	GAA	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277072.2	Missense_Mutation	-	ENST00000340001.4	Splice_Site	SNP	17 : 67012395 - 67012395 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	304	31
ELAC2	60528	broad.mit.edu	37	17	12903547	12903547	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:12903547G>A	ENST00000338034.4	-	15	1588	c.1349C>T	c.(1348-1350)gCg>gTg	p.A450V	ELAC2_ENST00000395962.2_Missense_Mutation_p.A431V|ELAC2_ENST00000426905.3_Missense_Mutation_p.A410V	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	450					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding	p.A450V(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						AAGCTGCAGCGCCTCAACTAT	0.577		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	63	64			NA	NA	17		NA											NA				12903547		2203	4300	6503	SO:0001583	missense			AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	60528	60528	3.1.26.11		14198	protein-coding gene	gene with protein product	tRNase Z (long form)	605367	elaC (E. coli) homolog 2, elaC homolog 2 (E. coli)		NA	10986046, 16636667, 21559454	Standard		NM_018127	NA	Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.1349C>T	17.37:g.12903547G>A	ENSP00000337445:p.Ala450Val	NA	Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	37	CCDS11164.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860073	0.32884	.	.	ENSG00000006744	ENST00000426905;ENST00000338034;ENST00000395962;ENST00000457438	T;T;T	0.65178	0.29;-0.13;-0.14	5.0	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.72946	0.3524	M	0.62723	1.935	0.80722	D	1	D;B;D;B;D;D;P;P	0.89917	1.0;0.414;0.999;0.414;1.0;0.987;0.888;0.55	D;B;D;B;D;P;B;B	0.87578	0.998;0.087;0.966;0.041;0.998;0.64;0.28;0.18	T	0.70135	-0.4955	10	0.27785	T	0.31	-20.3679	11.023	0.47728	0.0901:0.0:0.9099:0.0	.	410;433;431;248;450;210;435;78	B4DPL9;E9PGJ0;G5E9D5;E7ES68;Q9BQ52;B3KSU9;B4DT15;Q9BQ52-3	.;.;.;.;RNZ2_HUMAN;.;.;.	V	410;450;431;128	ENSP00000405223:A410V;ENSP00000337445:A450V;ENSP00000379291:A431V	ENSP00000337445:A450V	A	-	2	0	ELAC2	12844272	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	7.790000	0.85794	1.345000	0.45676	0.650000	0.86243	GCG	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000129934.5		-	ENST00000338034.4	Missense_Mutation	SNP	17 : 12903547 - 12903547 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	303	52
SCN10A	6336	broad.mit.edu	37	3	38770385	38770385	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38770385A>G	ENST00000449082.2	-	15	2287	c.2288T>C	c.(2287-2289)gTa>gCa	p.V763A		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	763					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CAGCTTGAATACGCGCAGCTG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	90	90			NA	NA	3		NA											NA				38770385		2203	4300	6503	SO:0001583	missense			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313	6336	6336		Sodium channels, Voltage-gated ion channels / Sodium channels	10582	protein-coding gene	gene with protein product		604427	sodium channel, voltage-gated, type X, alpha polypeptide		NA	9839820, 10198179, 16382098	Standard	NM_006514	NM_006514	NA	Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2288T>C	3.37:g.38770385A>G	ENSP00000390600:p.Val763Ala	NA	A6NDQ1	37	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.234726	0.79800	.	.	ENSG00000185313	ENST00000449082	D	0.98437	-4.93	4.83	4.83	0.62350	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98201	0.9405	M	0.85630	2.765	0.54753	D	0.999984	P	0.52170	0.951	P	0.48770	0.589	D	0.98897	1.0775	10	0.87932	D	0	.	14.5588	0.68120	1.0:0.0:0.0:0.0	.	763	Q9Y5Y9	SCNAA_HUMAN	A	763	ENSP00000390600:V763A	ENSP00000390600:V763A	V	-	2	0	SCN10A	38745389	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	9.083000	0.94067	2.028000	0.59812	0.533000	0.62120	GTA	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109745.3		-	ENST00000449082.2	Missense_Mutation	SNP	3 : 38770385 - 38770385 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	381	69
CTR9	9646	broad.mit.edu	37	11	10783548	10783548	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10783548C>T	ENST00000361367.2	+	7	1222	c.796C>T	c.(796-798)Cct>Tct	p.P266S		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	266					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TACTATTGATCCTAGCAACCC	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	115	117			NA	NA	11		NA											NA				10783548		2201	4294	6495	SO:0001583	missense			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730	9646	9646		Tetratricopeptide (TTC) repeat domain containing	16850	protein-coding gene	gene with protein product		609366	SH2 domain binding protein 1 (tetratricopeptide repeat containing), Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	SH2BP1	NA	8590280, 8636124	Standard	NM_014633	NM_014633	NA	Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.796C>T	11.37:g.10783548C>T	ENSP00000355013:p.Pro266Ser	NA	D3DQV8|Q15015	37	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.838796	0.32513	.	.	ENSG00000198730	ENST00000361367	T	0.54479	0.57	4.98	4.98	0.66077	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.34890	0.0913	N	0.05619	-0.005	0.80722	D	1	B	0.24426	0.103	B	0.22753	0.041	T	0.12967	-1.0527	10	0.25106	T	0.35	-13.9099	18.239	0.89960	0.0:1.0:0.0:0.0	.	266	Q6PD62	CTR9_HUMAN	S	266	ENSP00000355013:P266S	ENSP00000355013:P266S	P	+	1	0	CTR9	10740124	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.776000	0.68924	2.315000	0.78130	0.460000	0.39030	CCT	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386215.1		+	ENST00000361367.2	Missense_Mutation	SNP	11 : 10783548 - 10783548 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	342	55
DCUN1D4	23142	broad.mit.edu	37	4	52740552	52740552	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52740552G>A	ENST00000334635.5	+	4	431		c.e4+1		DCUN1D4_ENST00000381441.3_Splice_Site|DCUN1D4_ENST00000451288.2_Splice_Site|DCUN1D4_ENST00000381437.4_Splice_Site|DCUN1D4_ENST00000513800.1_Splice_Site	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	NA										endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			GACATGATAGGTATGATGTAG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	94	95			NA	NA	4		NA											NA				52740552		2203	4300	6503	SO:0001630	splice_region_variant			D87466	CCDS3487.2, CCDS33982.1, CCDS75123.1	4q11	2013-06-10	2013-06-10		ENSG00000109184	ENSG00000109184	23142	23142			28998	protein-coding gene	gene with protein product		612977	DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae)		NA	15988528	Standard	NM_015115	XM_005265731	NA	Approved	KIAA0276	uc003gze.3	Q92564	OTTHUMG00000128700	ENST00000334635.5:c.251+1G>A	4.37:g.52740552G>A		NA	Q7Z3F3|Q7Z6B8	37	CCDS33982.1	.	.	.	.	.	.	.	.	.	.	g	16.78	3.216602	0.58452	.	.	ENSG00000109184	ENST00000334635;ENST00000381441;ENST00000381437;ENST00000505403;ENST00000451288	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6259	0.76855	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DCUN1D4	52435309	1.000000	0.71417	0.998000	0.56505	0.650000	0.38633	7.843000	0.86859	2.366000	0.80165	0.651000	0.88453	.	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250599.2	Intron	+	ENST00000334635.5	Splice_Site	SNP	4 : 52740552 - 52740552 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	346	61
SLC35A5	55032	broad.mit.edu	37	3	112299496	112299496	+	Missense_Mutation	SNP	C	C	T	rs144280370		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112299496C>T	ENST00000492406.1	+	6	815	c.532C>T	c.(532-534)Cgt>Tgt	p.R178C	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	178						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity	p.R178S(1)		endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						CTTGGCAGGACGTGGATTTCA	0.463		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)						C	CYS/ARG	0,4406		0,0,2203	116	113	114		532	5.8	1	3	dbSNP_134	114	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC35A5	NM_017945.2	180	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	possibly-damaging	178/425	112299496	1,13005	2203	4300	6503	SO:0001583	missense			AK000737	CCDS2967.1	3q13.13	2013-05-22			ENSG00000138459	ENSG00000138459	55032	55032		Solute carriers	20792	protein-coding gene	gene with protein product					NA		Standard	NM_017945	NM_017945	NA	Approved	FLJ20730	uc003dze.4	Q9BS91	OTTHUMG00000159263	ENST00000492406.1:c.532C>T	3.37:g.112299496C>T	ENSP00000417654:p.Arg178Cys	NA	D3DN66|Q69YY6|Q6ZMD6|Q9NWM9	37	CCDS2967.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.289704	0.59976	0.0	1.16E-4	ENSG00000138459	ENST00000492406	T	0.47177	0.85	5.76	5.76	0.90799	.	0.314260	0.39475	N	0.001341	T	0.33089	0.0851	N	0.08118	0	0.38054	D	0.935873	P	0.47762	0.9	B	0.43575	0.424	T	0.22034	-1.0228	9	.	.	.	-12.1866	18.1556	0.89689	0.0:1.0:0.0:0.0	.	178	Q9BS91	S35A5_HUMAN	C	178	ENSP00000417654:R178C	.	R	+	1	0	SLC35A5	113782186	0.997000	0.39634	1.000000	0.80357	0.539000	0.34962	3.555000	0.53727	2.724000	0.93272	0.585000	0.79938	CGT	SLC35A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354184.1		+	ENST00000492406.1	Missense_Mutation	SNP	3 : 112299496 - 112299496 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	454	74
NOP56	10528	broad.mit.edu	37	20	2636638	2636638	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2636638C>T	ENST00000329276.5	+	8	1484	c.968C>T	c.(967-969)gCa>gTa	p.A323V	NOP56_ENST00000492135.1_3'UTR	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	323	Nop.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						AAGTATCCAGCATCCACAGTG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	65	70			NA	NA	20		NA											NA				2636638		2203	4300	6503	SO:0001583	missense			Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361	10528	10528			15911	protein-coding gene	gene with protein product	spinocerebellar ataxia 36	614154	nucleolar protein 5A (56kD with KKE/D repeat), nucleolar protein 5A (56kDa with KKE/D repeat), NOP56 ribonucleoprotein homolog (yeast)	NOL5A	NA	9372940, 21683323	Standard	NM_006392	NR_027700	NA	Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.968C>T	20.37:g.2636638C>T	ENSP00000370589:p.Ala323Val	NA	Q2M3T6|Q9NQ05	37	CCDS13030.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.8|24.8	4.569305|4.569305	0.86439|0.86439	.|.	.|.	ENSG00000101361|ENSG00000101361	ENST00000329276;ENST00000381169|ENST00000415272	D|.	0.81579|.	-1.51|.	5.43|5.43	5.43|5.43	0.79202|0.79202	Pre-mRNA processing ribonucleoprotein, snoRNA-binding domain (1);|.	0.097174|.	0.64402|.	D|.	0.000001|.	D|D	0.91637|0.91637	0.7357|0.7357	H|H	0.99877|0.99877	4.88|4.88	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.79108|.	0.992;0.986|.	D|D	0.94971|0.94971	0.8117|0.8117	10|5	0.87932|.	D|.	0|.	-12.1857|-12.1857	14.7342|14.7342	0.69404|0.69404	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	70;323|.	E9PDI8;O00567|.	.;NOP56_HUMAN|.	V|Y	323;70|64	ENSP00000370589:A323V|.	ENSP00000370589:A323V|.	A|H	+|+	2|1	0|0	NOP56|NOP56	2584638|2584638	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.640000|7.640000	0.83355|0.83355	2.532000|2.532000	0.85374|0.85374	0.561000|0.561000	0.74099|0.74099	GCA|CAT	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077631.2		+	ENST00000329276.5	Missense_Mutation	SNP	20 : 2636638 - 2636638 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	274	43
KRT1	3848	broad.mit.edu	37	12	53073598	53073598	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53073598G>A	ENST00000252244.3	-	1	593	c.535C>T	c.(535-537)Cga>Tga	p.R179*		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	179	Head.		Missing (in palmoplantar keratoderma; and mild ichthyosis largely limited to the flexural areas).		complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						TCCCTTTCTCGAGACTTCACC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													255	238	244			NA	NA	12		NA											NA				53073598		2203	4300	6503	SO:0001587	stop_gained			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768	3848	3848		-, Intermediate filaments type II, keratins (basic)	6412	protein-coding gene	gene with protein product		139350	epidermolytic hyperkeratosis 1	EHK1	NA	2461420, 2470667, 16831889	Standard	NM_006121	NM_006121	NA	Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.535C>T	12.37:g.53073598G>A	ENSP00000252244:p.Arg179*	NA	B2RA01|Q14720|Q6GSJ0|Q9H298	37	CCDS8836.1	.	.	.	.	.	.	.	.	.	.	G	36	5.742985	0.96873	.	.	ENSG00000167768	ENST00000252244	.	.	.	4.61	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	14.0804	0.64917	0.0:0.4309:0.5691:0.0	.	.	.	.	X	179	.	ENSP00000252244:R179X	R	-	1	2	KRT1	51359865	0.263000	0.24083	0.917000	0.36280	0.919000	0.55068	1.490000	0.35573	1.057000	0.40506	0.448000	0.29417	CGA	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405706.1		-	ENST00000252244.3	Nonsense_Mutation	SNP	12 : 53073598 - 53073598 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	717	121
SOAT2	8435	broad.mit.edu	37	12	53497948	53497948	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53497948G>A	ENST00000301466.3	+	2	156	c.96G>A	c.(94-96)acG>acA	p.T32T		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	32					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						ACACTGAGACGCACAGAGCCC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4405	2.1+/-5.4	0,1,2202	106	97	100		96	-7.6	0	12		100	0,8600		0,0,4300	no	coding-synonymous	SOAT2	NM_003578.3		0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077		32/523	53497948	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	8435	8435	2.3.1.26		11178	protein-coding gene	gene with protein product		601311			NA	9756920	Standard		NM_003578	NA	Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.96G>A	12.37:g.53497948G>A		NA	Q4VB99|Q96TD4|Q9UNR2	37	CCDS8847.1																																																																																			SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405817.1		+	ENST00000301466.3	Silent	SNP	12 : 53497948 - 53497948 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	475	73
FTCD	10841	broad.mit.edu	37	21	47556926	47556926	+	Missense_Mutation	SNP	T	T	A	rs144456078		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47556926T>A	ENST00000291670.5	-	14	1644	c.1601A>T	c.(1600-1602)gAc>gTc	p.D534V	FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397748.1_Silent_p.G527G|FTCD_ENST00000397743.1_3'UTR|FTCD_ENST00000359679.2_Silent_p.G527G|FTCD_ENST00000397746.3_Missense_Mutation_p.D534V|FTCD_ENST00000355384.2_3'UTR	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	534	Cyclodeaminase/cyclohydrolase (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CTCCAAGCAGTCCAGCACCAG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	62	63			NA	NA	21		NA											NA				47556926		2202	4299	6501	SO:0001583	missense			U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	10841	10841	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	formiminotransferase cyclodeaminase		NA	10029623, 10773664	Standard	NM_006657	NM_006657	NA	Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.1601A>T	21.37:g.47556926T>A	ENSP00000291670:p.Asp534Val	NA	B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	37	CCDS13731.1	.	.	.	.	.	.	.	.	.	.	T	3.124	-0.179945	0.06380	.	.	ENSG00000160282	ENST00000291670;ENST00000446405;ENST00000397746	T;T	0.45668	0.89;0.89	3.5	1.03	0.20045	Cyclodeaminase/cyclohydrolase (1);	.	.	.	.	T	0.35098	0.0920	M	0.65498	2.005	0.54753	D	0.999984	B	0.25955	0.138	B	0.24006	0.05	T	0.17837	-1.0356	9	0.48119	T	0.1	.	4.1292	0.10141	0.0:0.2331:0.1798:0.587	.	534	O95954	FTCD_HUMAN	V	534;68;534	ENSP00000291670:D534V;ENSP00000380854:D534V	ENSP00000291670:D534V	D	-	2	0	FTCD	46381354	0.011000	0.17503	0.469000	0.27204	0.064000	0.16182	0.238000	0.18004	0.365000	0.24400	0.374000	0.22700	GAC	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206962.1		-	ENST00000291670.5	Missense_Mutation	SNP	21 : 47556926 - 47556926 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	201	45
HHAT	55733	broad.mit.edu	37	1	210796957	210796957	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210796957G>T	ENST00000367010.1	+	11	1560	c.1333G>T	c.(1333-1335)Gta>Tta	p.V445L	HHAT_ENST00000413764.2_Missense_Mutation_p.V445L|HHAT_ENST00000545781.1_Missense_Mutation_p.V382L|HHAT_ENST00000391905.3_Missense_Mutation_p.V445L|HHAT_ENST00000545154.1_Missense_Mutation_p.V446L|HHAT_ENST00000308852.6_Missense_Mutation_p.V400L|HHAT_ENST00000537898.1_Missense_Mutation_p.V380L|HHAT_ENST00000367009.1_Missense_Mutation_p.V135L|HHAT_ENST00000541565.1_Missense_Mutation_p.V308L|HHAT_ENST00000261458.3_Missense_Mutation_p.V445L	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	445					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GTCCAACCTGGTATTTCTTGG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													290	273	278			NA	NA	1		NA											NA				210796957		2203	4300	6503	SO:0001583	missense			AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392	55733	55733			18270	protein-coding gene	gene with protein product		605743			NA	11160356	Standard	NM_018194	NM_001170587	NA	Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.1333G>T	1.37:g.210796957G>T	ENSP00000355977:p.Val445Leu	NA	D3DT91|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	37	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.401967	0.62288	.	.	ENSG00000054392	ENST00000413764;ENST00000541565;ENST00000545154;ENST00000537898;ENST00000391905;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000367009	T;T;T;T;T;T;T;T;T;T	0.46451	2.17;0.87;2.16;2.16;2.13;2.2;2.17;2.2;2.17;0.88	6.06	6.06	0.98353	.	0.065429	0.64402	D	0.000012	T	0.42017	0.1184	L	0.42686	1.345	0.37062	D	0.898122	P;D;P;P;P	0.53745	0.937;0.962;0.894;0.919;0.937	B;P;B;B;B	0.47827	0.239;0.558;0.437;0.327;0.377	T	0.46569	-0.9182	10	0.49607	T	0.09	-28.2492	11.4562	0.50183	0.0812:0.0:0.9188:0.0	.	400;446;308;380;445	B7Z2U8;F5H444;B7Z4D5;B7Z5I1;Q5VTY9	.;.;.;.;HHAT_HUMAN	L	445;308;446;380;445;382;445;400;445;135	ENSP00000416845:V445L;ENSP00000444995:V308L;ENSP00000438468:V446L;ENSP00000442625:V380L;ENSP00000375773:V445L;ENSP00000439229:V382L;ENSP00000261458:V445L;ENSP00000308628:V400L;ENSP00000355977:V445L;ENSP00000355976:V135L	ENSP00000261458:V445L	V	+	1	0	HHAT	208863580	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	2.638000	0.46562	2.879000	0.98667	0.650000	0.86243	GTA	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088662.1		+	ENST00000367010.1	Missense_Mutation	SNP	1 : 210796957 - 210796957 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2038	556
SOX8	30812	broad.mit.edu	37	16	1035032	1035032	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1035032C>T	ENST00000293894.3	+	3	1102	c.987C>T	c.(985-987)acC>acT	p.T329T		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	329					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CGTCGCCCACCGAGACGGGTC	0.751		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													4	5	5			NA	NA	16		NA											NA				1035032		1823	3784	5607	SO:0001819	synonymous_variant			AF164104	CCDS10428.1	16p13.3	2008-05-23			ENSG00000005513	ENSG00000005513	30812	30812		SRY (sex determining region Y)-boxes	11203	protein-coding gene	gene with protein product		605923			NA	10662550, 10684944	Standard		NM_014587	NA	Approved		uc002ckn.3	P57073	OTTHUMG00000122101	ENST00000293894.3:c.987C>T	16.37:g.1035032C>T		NA	Q9NZW2	37	CCDS10428.1																																																																																			SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000242867.1		+	ENST00000293894.3	Silent	SNP	16 : 1035032 - 1035032 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	100	19
ACAN	176	broad.mit.edu	37	15	89400745	89400745	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89400745C>A	ENST00000559004.1	+	12	4987	c.4929C>A	c.(4927-4929)ccC>ccA	p.P1643P	ACAN_ENST00000561243.1_Silent_p.P1643P|ACAN_ENST00000352105.7_Silent_p.P1643P|ACAN_ENST00000439576.2_Silent_p.P1643P			E7EX88	E7EX88_HUMAN	aggrecan	1643					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GTGGCCCACCCTCTGGCCTGC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	148	147			NA	NA	15		NA											NA				89400745		1935	4123	6058	SO:0001819	synonymous_variant			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766	176	176		Immunoglobulin superfamily / V-set domain containing, Proteoglycans / Extracellular Matrix : Hyalectans	319	protein-coding gene	gene with protein product	aggrecan proteoglycan	155760	chondroitin sulfate proteoglycan 1, aggrecan 1	MSK16, CSPG1, AGC1	NA	1985970	Standard	NM_001135	NM_013227	NA	Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000559004.1:c.4929C>A	15.37:g.89400745C>A		NA		37																																																																																				ACAN-008	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000418839.1		+	ENST00000559004.1	Silent	SNP	15 : 89400745 - 89400745 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	698	142
MAST4	375449	broad.mit.edu	37	5	66461256	66461256	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66461256C>T	ENST00000403625.2	+	29	6544	c.6249C>T	c.(6247-6249)ccC>ccT	p.P2083P	MAST4_ENST00000261569.7_Silent_p.P1889P|MAST4_ENST00000405643.1_Silent_p.P1904P|MAST4_ENST00000404260.3_Silent_p.P2086P|MAST4_ENST00000403666.1_Silent_p.P1894P	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2086						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AACCCAAGCCCGAAGCGCTTC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	52	49			NA	NA	5		NA											NA				66461256		1983	4147	6130	SO:0001819	synonymous_variant			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020	375449	375449			19037	protein-coding gene	gene with protein product					NA	9205841	Standard		NM_198828	NA	Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.6249C>T	5.37:g.66461256C>T		NA	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	37	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	4.866	0.160941	0.09287	.	.	ENSG00000069020	ENST00000443808	.	.	.	4.6	-9.2	0.00682	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0454	7.8471	0.29431	0.0:0.2763:0.3432:0.3804	.	.	.	.	X	1140	.	.	R	+	1	2	MAST4	66497012	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-3.217000	0.00553	-1.397000	0.02068	-1.000000	0.02509	CGA	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326324.2		+	ENST00000403625.2	Silent	SNP	5 : 66461256 - 66461256 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	353	64
CTBP2	1488	broad.mit.edu	37	10	126691615	126691615	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:126691615T>C	ENST00000309035.6	-	3	2022	c.1892A>G	c.(1891-1893)gAc>gGc	p.D631G	CTBP2_ENST00000337195.5_Missense_Mutation_p.D91G|CTBP2_ENST00000334808.6_Missense_Mutation_p.D159G|CTBP2_ENST00000494626.2_Missense_Mutation_p.D91G|CTBP2_ENST00000531469.1_Missense_Mutation_p.D91G|CTBP2_ENST00000411419.2_Missense_Mutation_p.D91G	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	91					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CTTCTCCAGGTCCTCCCTGGT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	69	75			NA	NA	10		NA											NA				126691615		2203	4300	6503	SO:0001583	missense			AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029	1488	1488			2495	protein-coding gene	gene with protein product		602619			NA	9479502, 11864595	Standard	NM_001083914	NM_022802	NA	Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000309035.6:c.1892A>G	10.37:g.126691615T>C	ENSP00000311825:p.Asp631Gly	NA	A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	37	CCDS7644.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.001605	0.74818	.	.	ENSG00000175029	ENST00000337195;ENST00000309035;ENST00000334808;ENST00000531469;ENST00000494626;ENST00000411419	T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27	4.94	4.94	0.65067	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.76807	0.4039	M	0.79693	2.465	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.995;0.996;0.997	T	0.80723	-0.1255	10	0.72032	D	0.01	.	14.9022	0.70687	0.0:0.0:0.0:1.0	.	91;631;159	P56545;P56545-2;Q5SQP8	CTBP2_HUMAN;.;.	G	91;631;159;91;91;91	ENSP00000338615:D91G;ENSP00000311825:D631G;ENSP00000357816:D159G;ENSP00000434630:D91G;ENSP00000436285:D91G;ENSP00000410474:D91G	ENSP00000311825:D631G	D	-	2	0	CTBP2	126681605	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	8.033000	0.88852	1.998000	0.58463	0.459000	0.35465	GAC	CTBP2-006	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050905.1		-	ENST00000309035.6	Missense_Mutation	SNP	10 : 126691615 - 126691615 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	16
MUC5B	727897	broad.mit.edu	37	11	1255461	1255461	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1255461G>A	ENST00000529681.1	+	20	2462	c.2404G>A	c.(2404-2406)Gac>Aac	p.D802N	MUC5B_ENST00000447027.1_Missense_Mutation_p.D805N	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	802					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGTGTACCTGGACTGCAGCAA	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	18	17			NA	NA	11		NA											NA				1255461		1972	4134	6106	SO:0001583	missense			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983	727897	727897		Mucins	7516	protein-coding gene	gene with protein product		600770	mucin 5, subtype B, tracheobronchial	MUC5	NA	9804771	Standard	XM_001126093	NM_002458	NA	Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2404G>A	11.37:g.1255461G>A	ENSP00000436812:p.Asp802Asn	NA	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	g	10.19	1.282631	0.23392	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.16324	2.35;2.35	4.21	3.28	0.37604	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (1);	.	.	.	.	T	0.18882	0.0453	L	0.37507	1.11	0.31973	N	0.606944	B;P;P	0.42357	0.077;0.777;0.777	B;B;B	0.42738	0.136;0.396;0.396	T	0.09079	-1.0691	9	0.87932	D	0	.	15.1372	0.72576	0.0779:0.0:0.9221:0.0	.	802;1461;805	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	N	802;805;803;838	ENSP00000436812:D802N;ENSP00000415793:D805N	ENSP00000343037:D803N	D	+	1	0	MUC5B	1212037	0.995000	0.38212	0.873000	0.34254	0.350000	0.29205	2.155000	0.42301	0.431000	0.26258	-1.634000	0.00779	GAC	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390041.2		+	ENST00000529681.1	Missense_Mutation	SNP	11 : 1255461 - 1255461 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	79	16
NAIF1	203245	broad.mit.edu	37	9	130829277	130829277	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130829277A>G	ENST00000373078.4	-	1	323	c.104T>C	c.(103-105)tTc>tCc	p.F35S		NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	35	Required for nuclear localization and apoptosis-inducing activity.				apoptosis|induction of apoptosis	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCCGGCGTTGAAGTGGTTCAC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	96	96			NA	NA	9		NA											NA				130829277		2203	4300	6503	SO:0001583	missense			AK122729	CCDS6889.1	9q34.11	2008-04-10	2008-04-10	2008-04-10	ENSG00000171169	ENSG00000171169	203245	203245			25446	protein-coding gene	gene with protein product	nuclear apoptosis-inducing factor 1	610673	chromosome 9 open reading frame 90	C9orf90	NA	14702039, 16378748	Standard	NM_197956	NM_197956	NA	Approved	DKFZp762G199, bA379C10.2	uc004bta.3	Q69YI7	OTTHUMG00000020727	ENST00000373078.4:c.104T>C	9.37:g.130829277A>G	ENSP00000362170:p.Phe35Ser	NA	B3KV81|Q8WU12	37	CCDS6889.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.520958	0.85495	.	.	ENSG00000171169	ENST00000373078	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.73628	0.3611	L	0.59436	1.845	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.70385	-0.4886	9	0.22706	T	0.39	-9.5899	14.2657	0.66116	1.0:0.0:0.0:0.0	.	35	Q69YI7	NAIF1_HUMAN	S	35	.	ENSP00000362170:F35S	F	-	2	0	NAIF1	129869098	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.622000	0.90953	1.972000	0.57404	0.460000	0.39030	TTC	NAIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054330.1		-	ENST00000373078.4	Missense_Mutation	SNP	9 : 130829277 - 130829277 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1093	167
WWP2	11060	broad.mit.edu	37	16	69971090	69971090	+	Silent	SNP	C	C	T	rs144693307	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69971090C>T	ENST00000359154.2	+	20	2288	c.2187C>T	c.(2185-2187)aaC>aaT	p.N729N	WWP2_ENST00000568684.1_Silent_p.N290N|WWP2_ENST00000542271.1_Silent_p.N613N|WWP2_ENST00000356003.2_Silent_p.N729N|WWP2_ENST00000448661.1_Silent_p.N729N|WWP2_ENST00000544162.1_3'UTR	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	729	HECT.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATGGCTTCAACGAGGTGGCCC	0.612		NA											C	2	9e-04	0.0041	NA	2184	NA	0.9998	,	,	NA	3e-04	NA	NA	NA	8e-04	0.911	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0								C	,	0,4396		0,0,2198	78	73	75		2187,870	-9.8	0.5	16	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	WWP2	NM_007014.3,NM_199424.1	,	0,1,6497	TT,TC,CC	NA	0.0116,0.0,0.0077	,	729/871,290/432	69971090	1,12995	2198	4300	6498	SO:0001819	synonymous_variant			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373	11060	11060			16804	protein-coding gene	gene with protein product		602308			NA	9169421, 12167593	Standard	NM_007014	NM_007014	NA	Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.2187C>T	16.37:g.69971090C>T		NA	A6NEP1|B2R706|Q96CZ2|Q9BWN6	37	CCDS10885.1																																																																																			WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268954.1		+	ENST00000359154.2	Silent	SNP	16 : 69971090 - 69971090 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	342	68
CLOCK	9575	broad.mit.edu	37	4	56304679	56304679	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56304679T>C	ENST00000309964.4	-	21	2381	c.2131A>G	c.(2131-2133)Acc>Gcc	p.T711A	CLOCK_ENST00000513440.1_Missense_Mutation_p.T711A|CLOCK_ENST00000381322.1_Missense_Mutation_p.T711A	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	711					circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			ACTAATTTGGTCACAAGTTGT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	68	73			NA	NA	4		NA											NA				56304679		2203	4300	6503	SO:0001583	missense			AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852	9575	9575		Chromatin-modifying enzymes / K-acetyltransferases, Basic helix-loop-helix proteins	2082	protein-coding gene	gene with protein product		601851	clock (mouse) homolog, clock homolog (mouse)		NA	10198158	Standard	NM_004898	NM_001267843	NA	Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.2131A>G	4.37:g.56304679T>C	ENSP00000308741:p.Thr711Ala	NA	A0AV01|A2I2N9|O14516|Q9UIT8	37	CCDS3500.1	.	.	.	.	.	.	.	.	.	.	T	17.80	3.477432	0.63849	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	T;T;T	0.05447	3.44;3.44;3.44	5.73	5.73	0.89815	.	0.093123	0.85682	D	0.000000	T	0.19525	0.0469	M	0.76574	2.34	0.80722	D	1	D	0.54772	0.968	P	0.54346	0.749	T	0.00356	-1.1793	9	.	.	.	.	16.0255	0.80541	0.0:0.0:0.0:1.0	.	711	O15516	CLOCK_HUMAN	A	711	ENSP00000308741:T711A;ENSP00000370723:T711A;ENSP00000426983:T711A	.	T	-	1	0	CLOCK	55999436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.195000	0.70347	0.477000	0.44152	ACC	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361993.2		-	ENST00000309964.4	Missense_Mutation	SNP	4 : 56304679 - 56304679 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	241	35
NCOR1	9611	broad.mit.edu	37	17	16024477	16024477	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16024477G>A	ENST00000268712.3	-	16	1998	c.1741C>T	c.(1741-1743)Cgt>Tgt	p.R581C	NCOR1_ENST00000395851.1_Missense_Mutation_p.R581C|NCOR1_ENST00000583226.1_5'UTR|NCOR1_ENST00000395848.1_Missense_Mutation_p.R472C	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	581					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CGGCCCTTACGGCGGCCCTGA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	80	79			NA	NA	17		NA											NA				16024477		2203	4300	6503	SO:0001583	missense			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027	9611	9611			7672	protein-coding gene	gene with protein product	thyroid hormone- and retinoic acid receptor-associated corepressor 1, protein phosphatase 1, regulatory subunit 109	600849	nuclear receptor co-repressor 1		NA	7566114, 9724795	Standard	NM_006311	NM_006311	NA	Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.1741C>T	17.37:g.16024477G>A	ENSP00000268712:p.Arg581Cys	NA	B3DLF8|Q9UPV5|Q9UQ18	37	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524587	0.85600	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395848	T;T;T	0.33865	1.39;1.39;1.39	5.7	2.48	0.30137	.	0.000000	0.85682	D	0.000000	T	0.56731	0.2005	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	0.999;0.989;1.0	P;P;D	0.87578	0.863;0.556;0.998	T	0.59322	-0.7476	10	0.87932	D	0	-9.9335	14.0288	0.64601	0.0:0.0:0.5936:0.4064	.	472;581;581	E9PGV6;O75376;O75376-2	.;NCOR1_HUMAN;.	C	581;581;472;472	ENSP00000268712:R581C;ENSP00000379192:R581C;ENSP00000379189:R472C	ENSP00000268712:R581C	R	-	1	0	NCOR1	15965202	1.000000	0.71417	0.922000	0.36590	0.990000	0.78478	3.895000	0.56258	0.268000	0.21939	0.655000	0.94253	CGT	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131751.5		-	ENST00000268712.3	Missense_Mutation	SNP	17 : 16024477 - 16024477 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	865	150
MAST2	23139	broad.mit.edu	37	1	46489643	46489643	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46489643T>C	ENST00000361297.2	+	15	2054	c.1771T>C	c.(1771-1773)Tac>Cac	p.Y591H	MAST2_ENST00000372009.2_Missense_Mutation_p.Y521H	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	591	Protein kinase.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GGTGATGGAGTACGTTGAAGG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	73	75			NA	NA	1		NA											NA				46489643		2202	4300	6502	SO:0001583	missense			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015	23139	23139			19035	protein-coding gene	gene with protein product		612257			NA		Standard	NM_015112	NM_015112	NA	Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.1771T>C	1.37:g.46489643T>C	ENSP00000354671:p.Tyr591His	NA	O94899|Q5VT07|Q5VT08|Q7LGC4|Q8NDG1|Q96B94|Q9BYE8	37	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.865492	0.91511	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000372008	T;T;T	0.32753	1.44;1.44;1.44	5.48	5.48	0.80851	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.59004	0.2162	M	0.80616	2.505	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.991;0.996;0.999;0.998	T	0.64791	-0.6324	10	0.87932	D	0	-11.6789	15.8795	0.79193	0.0:0.0:0.0:1.0	.	265;521;265;521;591	B3KU51;Q6P0Q8-2;E7EWL1;E7ERL6;Q6P0Q8	.;.;.;.;MAST2_HUMAN	H	591;521;265;476	ENSP00000354671:Y591H;ENSP00000361079:Y521H;ENSP00000361078:Y476H	ENSP00000354671:Y591H	Y	+	1	0	MAST2	46262230	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.040000	0.89188	2.221000	0.72209	0.454000	0.30748	TAC	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021977.1		+	ENST00000361297.2	Missense_Mutation	SNP	1 : 46489643 - 46489643 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	42
GOT1	2805	broad.mit.edu	37	10	101180479	101180479	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101180479T>G	ENST00000370508.5	-	2	229	c.202A>C	c.(202-204)Aat>Cat	p.N68H	GOT1_ENST00000471741.1_5'UTR|GOT1_ENST00000543866.1_Missense_Mutation_p.N47H	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	68					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TACTCGTGATTTAGGCTATTG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(173;770 3544 21601)							NA				0													164	155	158			NA	NA	10		NA											NA				101180479		2203	4300	6503	SO:0001583	missense			M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2805	2805	2.6.1.1		4432	protein-coding gene	gene with protein product	aspartate aminotransferase 1, aspartate transaminase 1	138180	glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)		NA	1974457	Standard	NM_002079	NM_002079	NA	Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.202A>C	10.37:g.101180479T>G	ENSP00000359539:p.Asn68His	NA	B2R6R7|Q5VW80	37	CCDS7479.1	.	.	.	.	.	.	.	.	.	.	T	16.86	3.239518	0.58995	.	.	ENSG00000120053	ENST00000370508;ENST00000543866	D;D	0.90955	-2.76;-2.76	5.77	5.77	0.91146	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.92642	0.7662	M	0.85299	2.745	0.80722	D	1	P;P	0.52577	0.954;0.954	P;P	0.45971	0.499;0.499	D	0.93775	0.7078	10	0.87932	D	0	6.6169	15.3757	0.74602	0.0:0.0:0.0:1.0	.	68;68	Q2TU84;P17174	.;AATC_HUMAN	H	68;47	ENSP00000359539:N68H;ENSP00000445578:N47H	ENSP00000359539:N68H	N	-	1	0	GOT1	101170469	1.000000	0.71417	0.920000	0.36463	0.027000	0.11550	7.533000	0.81994	2.326000	0.78906	0.533000	0.62120	AAT	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049794.1		-	ENST00000370508.5	Missense_Mutation	SNP	10 : 101180479 - 101180479 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	579	110
LILRB2	10288	broad.mit.edu	37	19	54778643	54778643	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54778643T>C	ENST00000391748.1	-	14	1815	c.1688A>G	c.(1687-1689)cAg>cGg	p.Q563R	LILRB2_ENST00000434421.1_Missense_Mutation_p.Q448R|LILRB2_ENST00000391749.4_Missense_Mutation_p.Q564R|LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000314446.5_Missense_Mutation_p.Q563R	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	564					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCTGTGCAGCTGGGCGTAGGT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	96	99			NA	NA	19		NA											NA				54778643		2203	4300	6503	SO:0001583	missense			AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042	NA	10288		Leukocyte immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	6606	protein-coding gene	gene with protein product		604815			NA	9151699, 9079806	Standard		XM_006722966	NA	Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391748.1:c.1688A>G	19.37:g.54778643T>C	ENSP00000375628:p.Gln563Arg	NA	O75017|Q8NHJ7|Q8NHJ8	37	CCDS42612.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.598581	0.46318	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000434421	T;T;T;T	0.00625	6.27;6.27;6.25;6.14	1.31	1.31	0.21738	.	.	.	.	.	T	0.02970	0.0088	M	0.87900	2.915	0.18873	N	0.999982	D;D	0.69078	0.997;0.994	D;D	0.75020	0.985;0.979	T	0.33828	-0.9853	9	0.66056	D	0.02	.	4.8943	0.13742	0.0:0.0:0.0:1.0	.	580;564	E7EVY1;Q8N423	.;LIRB2_HUMAN	R	563;563;564;448	ENSP00000375628:Q563R;ENSP00000319960:Q563R;ENSP00000375629:Q564R;ENSP00000410117:Q448R	ENSP00000319960:Q563R	Q	-	2	0	LILRB2	59470455	0.934000	0.31675	0.664000	0.29753	0.267000	0.26476	0.579000	0.23788	0.885000	0.36088	0.246000	0.17985	CAG	LILRB2-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000139335.2		-	ENST00000391748.1	Missense_Mutation	SNP	19 : 54778643 - 54778643 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	666	125
MKI67	4288	broad.mit.edu	37	10	129906354	129906354	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129906354G>T	ENST00000368654.3	-	13	4125	c.3750C>A	c.(3748-3750)ccC>ccA	p.P1250P	MKI67_ENST00000368653.3_Silent_p.P890P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1250	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GAGAGTCGCAGGGTATTTTAG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	124	124			NA	NA	10		NA											NA				129906354		2203	4300	6503	SO:0001819	synonymous_variant			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773	4288	4288			7107	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 105	176741	antigen identified by monoclonal antibody Ki-67		NA	2571566, 16206250	Standard	NM_002417	NM_002417	NA	Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3750C>A	10.37:g.129906354G>T		NA	Q5VWH2	37	CCDS7659.1																																																																																			MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050999.1		-	ENST00000368654.3	Silent	SNP	10 : 129906354 - 129906354 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	639	129
ZFP91	80829	broad.mit.edu	37	11	58381795	58381795	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58381795C>T	ENST00000316059.6	+	9	1252	c.1081C>T	c.(1081-1083)Cga>Tga	p.R361*	ZFP91-CNTF_ENST00000389919.4_Nonsense_Mutation_p.R361*	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	361	Interaction with MAP3K14/NIK.				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GCAACTTCTGCGACATGCCAA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	83	86			NA	NA	11		NA											NA				58381795		2201	4294	6495	SO:0001587	stop_gained			AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660	80829	80829		Zinc fingers, C2H2-type	14983	protein-coding gene	gene with protein product			zinc finger protein homologous to Zfp91 in mouse, zinc finger protein 91 homolog (mouse)		NA	12738986, 20682767	Standard	NM_053023	NM_053023	NA	Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.1081C>T	11.37:g.58381795C>T	ENSP00000339030:p.Arg361*	NA	A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	37	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	C	39	7.811760	0.98504	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	.	.	.	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0583	19.2039	0.93722	0.0:1.0:0.0:0.0	.	.	.	.	X	361	.	ENSP00000374569:R361X	R	+	1	2	ZFP91	58138371	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	7.487000	0.81328	2.833000	0.97629	0.585000	0.79938	CGA	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268674.1		+	ENST00000316059.6	Nonsense_Mutation	SNP	11 : 58381795 - 58381795 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	267	37
DAXX	1616	broad.mit.edu	37	6	33288663	33288663	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33288663C>A	ENST00000374542.5	-	3	1093	c.889G>T	c.(889-891)Gct>Tct	p.A297S	DAXX_ENST00000266000.6_Missense_Mutation_p.A297S|DAXX_ENST00000477162.1_Intron|DAXX_ENST00000414083.2_Missense_Mutation_p.A222S	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	297					activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	p.A297P(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TGTCGGGCAGCTGCCTTCTCT	0.597		NA	Mis, F, N		Pancreatic neuroendocrine tumors. Paediatric GBM									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		6	6p21.3	1616	death-domain associated protein		E	1	Substitution - Missense(1)	pancreas(1)											85	73	77			NA	NA	6		NA											NA				33288663		2203	4300	6503	SO:0001583	missense			AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209	1616	1616			2681	protein-coding gene	gene with protein product		603186	death-associated protein 6		NA	9407001, 9215629	Standard		NM_001141970	NA	Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.889G>T	6.37:g.33288663C>A	ENSP00000363668:p.Ala297Ser	NA	O14747|O15141|O15208|Q5STK9|Q9BWI3	37	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116827	0.37339	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	4.67	3.79	0.43588	.	0.109437	0.64402	D	0.000010	T	0.36166	0.0957	L	0.50919	1.6	0.33157	D	0.546452	P;D;D	0.58268	0.738;0.982;0.982	B;P;P	0.60117	0.441;0.869;0.869	T	0.24476	-1.0159	9	0.21540	T	0.41	-9.2936	5.725	0.18008	0.1955:0.7078:0.0:0.0968	.	309;297;297	B4E1C1;B2R7M0;Q9UER7	.;.;DAXX_HUMAN	S	297;297;222	.	ENSP00000266000:A297S	A	-	1	0	DAXX	33396641	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.756000	0.55205	1.186000	0.42985	0.643000	0.83706	GCT	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076403.1		-	ENST00000374542.5	Missense_Mutation	SNP	6 : 33288663 - 33288663 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	550	119
CLUH	23277	broad.mit.edu	37	17	2604557	2604557	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2604557G>T	ENST00000570628.2	-	7	893	c.788C>A	c.(787-789)tCc>tAc	p.S263Y	CLUH_ENST00000435359.1_Missense_Mutation_p.S263Y|CLUH_ENST00000538975.1_Missense_Mutation_p.S263Y					clustered mitochondria (cluA/CLU1) homolog	NA											NA						ATAAGCTGTGGACCTGCAGGG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	29	28			NA	NA	17		NA											NA				2604557		1975	4155	6130	SO:0001583	missense			AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361	23277	23277			29094	protein-coding gene	gene with protein product			KIAA0664	KIAA0664	NA		Standard	NM_015229	XM_005256567	NA	Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.788C>A	17.37:g.2604557G>T	ENSP00000458986:p.Ser263Tyr	NA		37	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437338	0.62955	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	D;D	0.88975	-2.45;-2.45	4.74	4.74	0.60224	GSKIP/TIF31 domain (1);	0.107611	0.64402	D	0.000003	D	0.95695	0.8600	M	0.92459	3.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.984	D	0.96713	0.9527	10	0.87932	D	0	.	16.8771	0.86054	0.0:0.0:1.0:0.0	.	263;263	O75153;C9J6D7	K0664_HUMAN;.	Y	263	ENSP00000388872:S263Y;ENSP00000439628:S263Y	ENSP00000320468:S263Y	S	-	2	0	KIAA0664	2551307	1.000000	0.71417	0.998000	0.56505	0.190000	0.23558	9.232000	0.95325	2.466000	0.83321	0.655000	0.94253	TCC	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437807.2		-	ENST00000570628.2	Missense_Mutation	SNP	17 : 2604557 - 2604557 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	130	9
ZNF85	7639	broad.mit.edu	37	19	21132044	21132044	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21132044T>C	ENST00000601023.1	+	2	1193	c.547T>C	c.(547-549)Tcc>Ccc	p.S183P	ZNF85_ENST00000345030.6_Missense_Mutation_p.S209P|ZNF85_ENST00000328178.8_Missense_Mutation_p.S242P			Q03923	ZNF85_HUMAN	zinc finger protein 85	242						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						CTTTAACCAGTCCTCAAACCT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	30	29			NA	NA	19		NA											NA				21132044		2185	4280	6465	SO:0001583	missense			U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750	7639	7639		Zinc fingers, C2H2-type, -	13160	protein-coding gene	gene with protein product		603899	zinc finger protein 85 (HPF4, HTF1)		NA	2505992	Standard	NM_003429	NM_003429	NA	Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000601023.1:c.547T>C	19.37:g.21132044T>C	ENSP00000472206:p.Ser183Pro	NA	B9ZVP4	37		.	.	.	.	.	.	.	.	.	.	.	5.177	0.218265	0.09810	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.01084	5.36;5.36	1.35	-2.7	0.06004	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00666	0.0022	L	0.28115	0.83	0.09310	N	1	B;P;B	0.41748	0.016;0.761;0.012	B;B;B	0.29942	0.013;0.109;0.016	T	0.45934	-0.9227	9	0.48119	T	0.1	.	0.2719	0.00232	0.3076:0.2934:0.1852:0.2138	.	209;183;242	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	P	242;209;117	ENSP00000329793:S242P;ENSP00000342340:S209P	ENSP00000329793:S242P	S	+	1	0	ZNF85	20923884	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.318000	0.19504	-0.366000	0.08064	-0.464000	0.05259	TCC	ZNF85-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000463433.2		+	ENST00000601023.1	Missense_Mutation	SNP	19 : 21132044 - 21132044 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	249	37
AP4E1	23431	broad.mit.edu	37	15	51207651	51207651	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51207651A>T	ENST00000261842.5	+	3	335	c.229A>T	c.(229-231)Atg>Ttg	p.M77L	AP4E1_ENST00000560508.1_Missense_Mutation_p.M2L	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	77					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TCAGAAAATGATGAAGGAATG	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	121	119			NA	NA	15		NA											NA				51207651		2195	4292	6487	SO:0001583	missense			AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014	23431	23431			573	protein-coding gene	gene with protein product		607244			NA	10436028, 21620353	Standard		NM_007347	NA	Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.229A>T	15.37:g.51207651A>T	ENSP00000261842:p.Met77Leu	NA	A0AVD6|A1L4A9|A6NNX7|Q9Y588	37	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.885118	0.51908	.	.	ENSG00000081014	ENST00000261842	T	0.24908	1.83	5.58	5.58	0.84498	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.042722	0.85682	N	0.000000	T	0.21427	0.0516	L	0.31578	0.945	0.53005	D	0.999962	B;B	0.16603	0.0;0.018	B;B	0.19666	0.001;0.026	T	0.03000	-1.1084	10	0.33940	T	0.23	-11.7069	14.9133	0.70776	1.0:0.0:0.0:0.0	.	77;77	B4DM48;Q9UPM8	.;AP4E1_HUMAN	L	77	ENSP00000261842:M77L	ENSP00000261842:M77L	M	+	1	0	AP4E1	48994943	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.727000	0.91480	2.252000	0.74401	0.529000	0.55759	ATG	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418656.1		+	ENST00000261842.5	Missense_Mutation	SNP	15 : 51207651 - 51207651 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	396	72
PDE10A	10846	broad.mit.edu	37	6	165809938	165809938	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165809938C>T	ENST00000366882.1	-	15	1413	c.1259G>A	c.(1258-1260)aGa>aAa	p.R420K	PDE10A_ENST00000354448.4_Missense_Mutation_p.R420K|PDE10A_ENST00000539869.2_Missense_Mutation_p.R430K			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	420					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.R420K(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GTGGCGAATTCTATGATACAT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(22;308 615 5753 12038 40624)							NA				1	Substitution - Missense(1)	lung(1)											145	127	133			NA	NA	6		NA											NA				165809938		2203	4300	6503	SO:0001583	missense			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	10846	10846	3.1.4.17	Phosphodiesterases	8772	protein-coding gene	gene with protein product		610652			NA	10373451	Standard		NM_001130690	NA	Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1259G>A	6.37:g.165809938C>T	ENSP00000355847:p.Arg420Lys	NA	Q6FHX1|Q9HCP9|Q9NTV4|Q9Y5T1	37		.	.	.	.	.	.	.	.	.	.	C	10.63	1.403901	0.25291	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.67865	-0.29;-0.29	5.34	5.34	0.76211	GAF (1);	0.000000	0.85682	D	0.000000	T	0.53786	0.1818	N	0.16656	0.425	0.53688	D	0.999977	P;B	0.52842	0.956;0.023	D;B	0.65010	0.931;0.014	T	0.54166	-0.8334	10	0.02654	T	1	.	19.0469	0.93025	0.0:1.0:0.0:0.0	.	430;420	Q9ULW9;Q9Y233	.;PDE10_HUMAN	K	420;448;430;420;419	ENSP00000355847:R420K;ENSP00000346435:R420K	ENSP00000341187:R430K	R	-	2	0	PDE10A	165729928	1.000000	0.71417	0.006000	0.13384	0.661000	0.39034	7.463000	0.80869	2.508000	0.84585	0.650000	0.86243	AGA	PDE10A-001	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000043031.1		-	ENST00000366882.1	Missense_Mutation	SNP	6 : 165809938 - 165809938 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	530	92
GRWD1	83743	broad.mit.edu	37	19	48953963	48953963	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48953963C>A	ENST00000253237.5	+	5	956	c.723C>A	c.(721-723)ctC>ctA	p.L241L		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	241						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		ACATCCACCTCTGGACACCTA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	44	45			NA	NA	19		NA											NA				48953963		2203	4300	6503	SO:0001819	synonymous_variant			AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447	83743	83743		WD repeat domain containing	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597			NA	15885502	Standard	NM_031485	NM_031485	NA	Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		ENST00000253237.5:c.723C>A	19.37:g.48953963C>A		NA	Q8TF59	37	CCDS12720.1																																																																																			GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466122.1		+	ENST00000253237.5	Silent	SNP	19 : 48953963 - 48953963 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	353	67
TMEM131	23505	broad.mit.edu	37	2	98429173	98429173	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98429173C>T	ENST00000186436.5	-	16	1885	c.1657G>A	c.(1657-1659)Gat>Aat	p.D553N		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	553						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						ACTCCAAAATCTATGAAACGT	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ASN/ASP	0,3612		0,0,1806	55	56	55		1657	5.6	1	2		55	1,8121		0,1,4060	no	missense	TMEM131	NM_015348.1	23	0,1,5866	TT,TC,CC	NA	0.0123,0.0,0.0085	probably-damaging	553/1884	98429173	1,11733	1806	4061	5867	SO:0001583	missense			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568	23505	23505			30366	protein-coding gene	gene with protein product		615659			NA	9039502, 10996388	Standard	XM_371542	NM_015348	NA	Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1657G>A	2.37:g.98429173C>T	ENSP00000186436:p.Asp553Asn	NA		37	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385078	0.82792	0.0	1.23E-4	ENSG00000075568	ENST00000186436	T	0.41400	1.0	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.57359	0.2048	L	0.39397	1.21	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.52653	-0.8547	10	0.44086	T	0.13	-19.9906	18.0982	0.89497	0.0:1.0:0.0:0.0	.	553	Q92545	TM131_HUMAN	N	553	ENSP00000186436:D553N	ENSP00000186436:D553N	D	-	1	0	TMEM131	97795605	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.540000	0.73861	2.785000	0.95823	0.591000	0.81541	GAT	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329285.2		-	ENST00000186436.5	Missense_Mutation	SNP	2 : 98429173 - 98429173 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	290	12
HOXB3	3213	broad.mit.edu	37	17	46628304	46628304	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46628304G>A	ENST00000489475.1	-	5	1170	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000485909.2_Missense_Mutation_p.R98W|HOXB3_ENST00000472863.1_Missense_Mutation_p.R157W|HOXB3_ENST00000490677.1_Missense_Mutation_p.R96W|HOXB3_ENST00000470495.1_Missense_Mutation_p.R230W|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000311626.4_Missense_Mutation_p.R230W|HOXB3_ENST00000460160.1_Missense_Mutation_p.R98W|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000476342.1_Missense_Mutation_p.R230W|HOXB3_ENST00000498678.1_Missense_Mutation_p.R230W			P14651	HXB3_HUMAN	homeobox B3	230	Gly-rich.				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						TTGATCTGCCGCTCGCTGAGG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	103	102			NA	NA	17		NA											NA				46628304		2203	4300	6503	SO:0001583	missense				CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093	3213	3213		Homeoboxes / ANTP class : HOXL subclass	5114	protein-coding gene	gene with protein product		142966	homeo box B3	HOX2, HOX2G	NA	1973146, 1358459	Standard		XM_006721854	NA	Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000489475.1:c.469C>T	17.37:g.46628304G>A	ENSP00000418729:p.Arg157Trp	NA	A8K567|D3DTV3|O95615|P17484	37		.	.	.	.	.	.	.	.	.	.	G	16.87	3.241850	0.58995	.	.	ENSG00000120093	ENST00000470495;ENST00000472863;ENST00000311626;ENST00000498678;ENST00000490677;ENST00000460160;ENST00000485909;ENST00000489475;ENST00000476342	D;D;D;D;D;D;D;D;D	0.96856	-4.15;-4.15;-4.15;-4.15;-4.15;-4.15;-4.15;-4.15;-4.15	3.43	3.43	0.39272	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98579	0.9525	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.98479	1.0604	10	0.87932	D	0	.	10.6315	0.45538	0.0:0.0:0.6691:0.3309	.	230	P14651	HXB3_HUMAN	W	230;157;230;230;96;98;98;157;230	ENSP00000417207:R230W;ENSP00000419676:R157W;ENSP00000308252:R230W;ENSP00000420595:R230W;ENSP00000449977:R96W;ENSP00000418035:R98W;ENSP00000438747:R98W;ENSP00000418729:R157W;ENSP00000418892:R230W	ENSP00000308252:R230W	R	-	1	2	HOXB3	43983303	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.259000	0.32956	1.954000	0.56735	0.644000	0.83932	CGG	HOXB3-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000358265.1		-	ENST00000489475.1	Missense_Mutation	SNP	17 : 46628304 - 46628304 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	786	70
ABHD11	83451	broad.mit.edu	37	7	73151260	73151260	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73151260G>T	ENST00000437775.2	-	5	847	c.793C>A	c.(793-795)Cat>Aat	p.H265N	ABHD11_ENST00000395147.4_Splice_Site_p.H215N|ABHD11_ENST00000222800.3_Splice_Site_p.H272N|ABHD11_ENST00000458339.1_Intron	NM_148913.2	NP_683711.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	272							hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTAGCTTACTGCACGAACTGG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	120	121			NA	NA	7		NA											NA				73151260		2203	4300	6503	SO:0001630	splice_region_variant			AF217971	CCDS5558.1, CCDS47607.1, CCDS47608.1, CCDS75615.1	7q11.23	2010-08-05	2005-01-24	2005-01-27	ENSG00000106077	ENSG00000106077	83451	83451		Abhydrolase domain containing	16407	protein-coding gene	gene with protein product			Williams Beuren syndrome chromosome region 21	WBSCR21	NA	12073013	Standard		NR_026910	NA	Approved	PP1226	uc003tzb.3	Q8NFV4	OTTHUMG00000130029	ENST00000437775.2:c.794+1C>A	7.37:g.73151260G>T		NA	Q6PJU0|Q8N722|Q8N723|Q8NFV2|Q8NFV3|Q9HBS8	37	CCDS47608.1	.	.	.	.	.	.	.	.	.	.	G	6.964	0.547811	0.13312	.	.	ENSG00000106077	ENST00000437775;ENST00000222800;ENST00000395147	T;T;T	0.66995	-0.24;-0.24;-0.24	4.38	2.47	0.30058	Alpha/beta hydrolase fold-1 (1);	0.522037	0.21087	N	0.080383	T	0.34658	0.0905	N	0.02802	-0.49	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.06405	0.002;0.002	T	0.16719	-1.0393	10	0.17832	T	0.49	1.1316	6.0827	0.19950	0.1074:0.1897:0.7029:0.0	.	265;272	Q8NFV4-4;Q8NFV4	.;ABHDB_HUMAN	N	265;272;215	ENSP00000416970:H265N;ENSP00000222800:H272N;ENSP00000378579:H215N	ENSP00000222800:H272N	H	-	1	0	ABHD11	72789196	0.161000	0.22892	0.479000	0.27329	0.245000	0.25701	2.379000	0.44318	0.823000	0.34589	0.561000	0.74099	CAT	ABHD11-003	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348052.1	Missense_Mutation	-	ENST00000437775.2	Splice_Site	SNP	7 : 73151260 - 73151260 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	833	166
C12orf4	57102	broad.mit.edu	37	12	4609488	4609488	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4609488C>T	ENST00000261250.3	-	11	1343	c.1256G>A	c.(1255-1257)cGg>cAg	p.R419Q	C12orf4_ENST00000545746.1_Missense_Mutation_p.R419Q|C12orf4_ENST00000509318.2_5'UTR	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	419										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		ATTAGAATGCCGTGTAATATA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	66	67			NA	NA	12		NA											NA				4609488		2203	4300	6503	SO:0001583	missense			AJ272205	CCDS8528.1	12p13.3	2012-08-10			ENSG00000047621	ENSG00000047621	57102	57102			1184	protein-coding gene	gene with protein product					NA		Standard	NM_020374	NM_020374	NA	Approved		uc001qms.3	Q9NQ89	OTTHUMG00000168258	ENST00000261250.3:c.1256G>A	12.37:g.4609488C>T	ENSP00000261250:p.Arg419Gln	NA	D3DUQ8|Q6MZH5	37	CCDS8528.1	.	.	.	.	.	.	.	.	.	.	C	33	5.257807	0.95368	.	.	ENSG00000047621	ENST00000261250;ENST00000545746	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.83788	0.5330	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	D	0.85399	0.1130	9	0.72032	D	0.01	.	19.7784	0.96405	0.0:1.0:0.0:0.0	.	419	Q9NQ89	CL004_HUMAN	Q	419	.	ENSP00000261250:R419Q	R	-	2	0	C12orf4	4479749	1.000000	0.71417	0.992000	0.48379	0.793000	0.44817	7.412000	0.80091	2.658000	0.90341	0.591000	0.81541	CGG	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398992.1		-	ENST00000261250.3	Missense_Mutation	SNP	12 : 4609488 - 4609488 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	260	26
KIAA0100	9703	broad.mit.edu	37	17	26947532	26947532	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26947532G>A	ENST00000528896.2	-	29	5433	c.5359C>T	c.(5359-5361)Cgg>Tgg	p.R1787W	KIAA0100_ENST00000544884.1_Missense_Mutation_p.R1644W|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R1644W	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1787						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CTCACCTTCCGCTTAGGTTCT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	121	130			NA	NA	17		NA											NA				26947532		2203	4300	6503	SO:0001583	missense			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202	9703	9703			28960	protein-coding gene	gene with protein product	cancer/testis antigen 101, breast cancer overexpressed gene 1	610664			NA	16289875	Standard	NM_014680	NM_014680	NA	Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.5359C>T	17.37:g.26947532G>A	ENSP00000436773:p.Arg1787Trp	NA	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	37	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328096	0.60743	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.46063	0.88;0.88	5.24	4.25	0.50352	FMP27,  C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60547	0.2277	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.64300	-0.6440	10	0.72032	D	0.01	.	14.6988	0.69142	0.0:0.0:0.8534:0.1466	.	1787	Q14667	K0100_HUMAN	W	1787;1757;1787;1644	ENSP00000436773:R1787W;ENSP00000446443:R1644W	ENSP00000005905:R1787W	R	-	1	2	KIAA0100	23971659	1.000000	0.71417	0.998000	0.56505	0.801000	0.45260	4.403000	0.59729	1.188000	0.43014	0.462000	0.41574	CGG	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390571.3		-	ENST00000528896.2	Missense_Mutation	SNP	17 : 26947532 - 26947532 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	297	17
SAMD9L	219285	broad.mit.edu	37	7	92763168	92763168	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92763168G>T	ENST00000318238.4	-	5	3333	c.2117C>A	c.(2116-2118)tCt>tAt	p.S706Y	SAMD9L_ENST00000437805.1_Missense_Mutation_p.S706Y|SAMD9L_ENST00000411955.1_Missense_Mutation_p.S706Y	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	706										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AAAATCTGAAGAATAGTTTTC	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	55	54			NA	NA	7		NA											NA				92763168		2200	4294	6494	SO:0001583	missense			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409	219285	219285		Sterile alpha motif (SAM) domain containing	1349	protein-coding gene	gene with protein product		611170	chromosome 7 open reading frame 6	C7orf6	NA		Standard	NM_152703	NM_152703	NA	Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.2117C>A	7.37:g.92763168G>T	ENSP00000326247:p.Ser706Tyr	NA	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	37	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680810	0.47886	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.25085	1.82;1.82;1.82	4.55	4.55	0.56014	.	0.482216	0.19226	N	0.119549	T	0.41442	0.1159	M	0.63843	1.955	0.29057	N	0.884132	P	0.46142	0.873	P	0.54026	0.74	T	0.33059	-0.9883	10	0.72032	D	0.01	-9.738	13.7229	0.62740	0.0:0.1554:0.8446:0.0	.	706	Q8IVG5	SAM9L_HUMAN	Y	706	ENSP00000326247:S706Y;ENSP00000405760:S706Y;ENSP00000408796:S706Y	ENSP00000326247:S706Y	S	-	2	0	SAMD9L	92601104	0.961000	0.32948	1.000000	0.80357	0.864000	0.49448	2.549000	0.45803	2.372000	0.80975	0.467000	0.42956	TCT	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341730.1		-	ENST00000318238.4	Missense_Mutation	SNP	7 : 92763168 - 92763168 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	451	113
HYOU1	10525	broad.mit.edu	37	11	118919076	118919076	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118919076G>A	ENST00000525859.1	-	20	2334	c.2074C>T	c.(2074-2076)Ctg>Ttg	p.L692L	HYOU1_ENST00000529972.1_Silent_p.L692L|HYOU1_ENST00000404233.3_Silent_p.L754L|HYOU1_ENST00000543287.1_3'UTR			Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	754						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GGCTGGTACAGCTTGTCCTGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	0,4400		0,0,2200	82	81	81		2260,2260	4.6	1	11		81	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous,coding-synonymous	HYOU1	NM_001130991.1,NM_006389.3	,	0,1,6494	AA,AG,GG	NA	0.0116,0.0,0.0077	,	754/1000,754/1000	118919076	1,12989	2200	4295	6495	SO:0001819	synonymous_variant			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428	10525	10525		Heat shock proteins / HSP70	16931	protein-coding gene	gene with protein product	glucose-regulated protein 170	601746			NA	9020069, 10037731	Standard	NM_006389	XM_005271390	NA	Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000525859.1:c.2074C>T	11.37:g.118919076G>A		NA	Q2I204|Q53H25	37																																																																																				HYOU1-005	NOVEL	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000389359.1		-	ENST00000525859.1	Silent	SNP	11 : 118919076 - 118919076 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	581	125
MLLT1	4298	broad.mit.edu	37	19	6222534	6222534	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6222534G>A	ENST00000252674.7	-	6	871	c.708C>T	c.(706-708)ggC>ggT	p.G236G		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	236					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						TGGGCAGCCGGCCCTCGCCCA	0.642		NA	T	MLL	AL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		19	19p13.3	4298	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)		L	0													33	32	33			NA	NA	19		NA											NA				6222534		2203	4300	6503	SO:0001819	synonymous_variant				CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382	4298	4298			7134	protein-coding gene	gene with protein product		159556	myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1		NA		Standard	NM_005934	XM_005259561	NA	Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.708C>T	19.37:g.6222534G>A		NA	Q14768	37	CCDS12160.1																																																																																			MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452909.1		-	ENST00000252674.7	Silent	SNP	19 : 6222534 - 6222534 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	213	49
C7orf66	154907	broad.mit.edu	37	7	108524165	108524165	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:108524165G>A	ENST00000379007.2	-	2	301	c.247C>T	c.(247-249)Cat>Tat	p.H83Y		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	83						integral to membrane				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						TATCCCTCATGAATTCTAGTT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													187	161	169			NA	NA	7		NA											NA				108524165		2203	4300	6503	SO:0001583	missense			AF103078	CCDS34735.1	7q31.1	2009-03-06			ENSG00000205174	ENSG00000205174	154907	154907			33712	protein-coding gene	gene with protein product					NA		Standard	NM_001024607	NM_001024607	NA	Approved		uc003vfo.3	A4D0T2	OTTHUMG00000154867	ENST00000379007.2:c.247C>T	7.37:g.108524165G>A	ENSP00000368292:p.His83Tyr	NA		37	CCDS34735.1	.	.	.	.	.	.	.	.	.	.	g	6.269	0.417657	0.11870	.	.	ENSG00000205174	ENST00000379007	.	.	.	3.84	1.97	0.26223	.	.	.	.	.	T	0.17195	0.0413	N	0.08118	0	0.09310	N	1	B	0.27656	0.184	B	0.32289	0.143	T	0.30119	-0.9989	7	.	.	.	.	4.4772	0.11750	0.1159:0.0:0.6639:0.2202	.	83	A4D0T2	CG066_HUMAN	Y	83	.	.	H	-	1	0	C7orf66	108311401	0.228000	0.23718	0.009000	0.14445	0.085000	0.17905	0.634000	0.24614	0.552000	0.29026	0.552000	0.68991	CAT	C7orf66-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337420.1		-	ENST00000379007.2	Missense_Mutation	SNP	7 : 108524165 - 108524165 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	410	61
TTC31	64427	broad.mit.edu	37	2	74719130	74719130	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74719130G>T	ENST00000410003.1	+	9	885		c.e9-1		TTC31_ENST00000442235.2_Intron|TTC31_ENST00000233623.5_Splice_Site			Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	NA							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						CCTATCCCCAGGCATCTCCGG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	63	62			NA	NA	2		NA											NA				74719130		1984	4166	6150	SO:0001630	splice_region_variant			AK026819	CCDS42701.1	2p13.1	2013-01-11			ENSG00000115282	ENSG00000115282	64427	64427		Tetratricopeptide (TTC) repeat domain containing	25759	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_022492	NM_022492	NA	Approved	FLJ12788	uc002slt.2	Q49AM3	OTTHUMG00000152887	ENST00000410003.1:c.877-1G>T	2.37:g.74719130G>T		NA	Q4KN40|Q53FD4|Q9H9F7	37		.	.	.	.	.	.	.	.	.	.	G	8.749	0.920848	0.17982	.	.	ENSG00000115282	ENST00000410003;ENST00000233623;ENST00000414247	.	.	.	4.12	3.24	0.37175	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4006	0.26962	0.1197:0.0:0.8803:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTC31	74572638	0.978000	0.34361	0.250000	0.24296	0.357000	0.29423	2.111000	0.41883	0.954000	0.37851	0.561000	0.74099	.	TTC31-005	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000328426.1	Intron	+	ENST00000410003.1	Splice_Site	SNP	2 : 74719130 - 74719130 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	378	67
POMGNT2	84892	broad.mit.edu	37	3	43121639	43121639	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:43121639G>A	ENST00000344697.2	-	2	1630	c.1285C>T	c.(1285-1287)Cgt>Tgt	p.R429C	POMGNT2_ENST00000441964.1_Missense_Mutation_p.R429C	NM_032806.5	NP_116195.2			protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	NA											NA						GGGACCTCACGGCTTTGCAGG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	39	39			NA	NA	3		NA											NA				43121639		2203	4300	6503	SO:0001583	missense			AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647	84892	84892			25902	protein-coding gene	gene with protein product		614828	chromosome 3 open reading frame 39, glycosyltransferase-like domain containing 2	C3orf39, GTDC2	NA	12477932	Standard	NM_032806	NM_032806	NA	Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.1285C>T	3.37:g.43121639G>A	ENSP00000344125:p.Arg429Cys	NA		37	CCDS2709.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190638	0.38707	.	.	ENSG00000144647	ENST00000441964;ENST00000344697	T;T	0.77489	-1.1;-1.1	5.23	4.36	0.52297	.	0.346611	0.27886	N	0.017460	T	0.64159	0.2573	L	0.44542	1.39	0.43347	D	0.995409	P	0.45212	0.853	B	0.34452	0.183	T	0.66388	-0.5936	10	0.62326	D	0.03	-18.827	7.1044	0.25356	0.0847:0.0:0.6494:0.2658	.	429	Q8NAT1	AGO61_HUMAN	C	429	ENSP00000408992:R429C;ENSP00000344125:R429C	ENSP00000344125:R429C	R	-	1	0	C3orf39	43096643	1.000000	0.71417	0.943000	0.38184	0.706000	0.40770	3.364000	0.52328	1.350000	0.45770	0.650000	0.86243	CGT	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256643.1		-	ENST00000344697.2	Missense_Mutation	SNP	3 : 43121639 - 43121639 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	231	47
OR4M1	441670	broad.mit.edu	37	14	20249045	20249045	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20249045C>A	ENST00000315957.4	+	1	645	c.564C>A	c.(562-564)gcC>gcA	p.A188A		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCGGATTGCCTGTGCCAACA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													300	265	277			NA	NA	14		NA											NA				20249045		2203	4297	6500	SO:0001819	synonymous_variant				CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299	441670	441670		GPCR / Class A : Olfactory receptors	14735	protein-coding gene	gene with protein product					NA		Standard		NM_001005500	NA	Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.564C>A	14.37:g.20249045C>A		NA	B9EH18|Q6IFA3	37	CCDS32021.1																																																																																			OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409770.1		+	ENST00000315957.4	Silent	SNP	14 : 20249045 - 20249045 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1845	230
KLB	152831	broad.mit.edu	37	4	39448080	39448080	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39448080T>G	ENST00000257408.4	+	4	1831	c.1734T>G	c.(1732-1734)gaT>gaG	p.D578E		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	578	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						AATGCACAGATTTTGTAAACA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	104	103			NA	NA	4		NA											NA				39448080		2203	4300	6503	SO:0001583	missense			AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962	152831	152831			15527	protein-coding gene	gene with protein product		611135			NA		Standard	NM_175737	NM_175737	NA	Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.1734T>G	4.37:g.39448080T>G	ENSP00000257408:p.Asp578Glu	NA	Q2M3K8	37	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.984487	0.74474	.	.	ENSG00000134962	ENST00000257408	T	0.29142	1.58	5.68	-0.762	0.11034	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.045170	0.85682	D	0.000000	T	0.38401	0.1039	L	0.53617	1.68	0.35765	D	0.820461	D;D	0.56746	0.977;0.977	P;P	0.57283	0.817;0.817	T	0.44050	-0.9353	10	0.42905	T	0.14	-24.6571	10.2208	0.43196	0.0:0.4305:0.0:0.5695	.	569;578	B7ZL50;Q86Z14	.;KLOTB_HUMAN	E	578	ENSP00000257408:D578E	ENSP00000257408:D578E	D	+	3	2	KLB	39124475	0.964000	0.33143	0.915000	0.36163	0.850000	0.48378	0.088000	0.14979	-0.100000	0.12241	0.397000	0.26171	GAT	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250429.1		+	ENST00000257408.4	Missense_Mutation	SNP	4 : 39448080 - 39448080 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	425	75
ABCA12	26154	broad.mit.edu	37	2	215838750	215838750	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215838750C>A	ENST00000272895.7	-	36	5704	c.5485G>T	c.(5485-5487)Gac>Tac	p.D1829Y	ABCA12_ENST00000389661.4_Missense_Mutation_p.D1511Y	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1829					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCCAGACTGTCTTTGTTTAAA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(66;664 1488 5121 34295)							NA				0													225	200	208			NA	NA	2		NA											NA				215838750		2203	4300	6503	SO:0001583	missense			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452	26154	26154		ATP binding cassette transporters / subfamily A	14637	protein-coding gene	gene with protein product		607800	ichthyosis congenita II, lamellar ichthyosis B	ICR2B	NA	11435397, 12915478, 8845852, 10094194	Standard	NM_173076	NM_015657	NA	Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.5485G>T	2.37:g.215838750C>A	ENSP00000272895:p.Asp1829Tyr	NA	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	9.541	1.113260	0.20795	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.89123	-2.47;-2.46	5.51	-1.58	0.08479	.	1.268040	0.05120	N	0.490566	D	0.86188	0.5873	N	0.24115	0.695	0.09310	N	1	P;P	0.45240	0.854;0.744	P;P	0.49999	0.628;0.495	T	0.76833	-0.2813	10	0.66056	D	0.02	.	9.9501	0.41634	0.0:0.5154:0.0:0.4846	.	1829;1511	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	Y	1829;1511	ENSP00000272895:D1829Y;ENSP00000374312:D1511Y	ENSP00000272895:D1829Y	D	-	1	0	ABCA12	215546995	0.000000	0.05858	0.000000	0.03702	0.163000	0.22366	0.124000	0.15728	-0.409000	0.07553	0.557000	0.71058	GAC	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337111.1		-	ENST00000272895.7	Missense_Mutation	SNP	2 : 215838750 - 215838750 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	55
ZNF292	23036	broad.mit.edu	37	6	87970351	87970351	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:87970351G>A	ENST00000369577.3	+	8	7047	c.7004G>A	c.(7003-7005)cGa>cAa	p.R2335Q	ZNF292_ENST00000339907.4_Missense_Mutation_p.R2330Q	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AAGACCAAACGAAAGAAAAAA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	GLN/ARG	18,3664		0,18,1823	38	41	40		7004	5.6	1	6		40	0,8166		0,0,4083	yes	missense	ZNF292	NM_015021.1	43	0,18,5906	AA,AG,GG	NA	0.0,0.4889,0.1519	probably-damaging	2335/2724	87970351	18,11830	1841	4083	5924	SO:0001583	missense			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994	23036	23036		Zinc fingers, C2H2-type	18410	protein-coding gene	gene with protein product					NA	9628581	Standard	NM_015021	NM_015021	NA	Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.7004G>A	6.37:g.87970351G>A	ENSP00000358590:p.Arg2335Gln	NA	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	37	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.301151	0.60195	0.004889	0.0	ENSG00000188994	ENST00000369577;ENST00000339907;ENST00000496806	T;T;T	0.54479	3.18;3.19;0.57	5.62	5.62	0.85841	.	0.175405	0.42172	D	0.000744	T	0.61476	0.2350	L	0.51422	1.61	0.34193	D	0.672324	D	0.89917	1.0	D	0.79108	0.992	T	0.59247	-0.7490	10	0.38643	T	0.18	.	19.6484	0.95791	0.0:0.0:1.0:0.0	.	2335	O60281	ZN292_HUMAN	Q	2335;2330;253	ENSP00000358590:R2335Q;ENSP00000342847:R2330Q;ENSP00000428857:R253Q	ENSP00000342847:R2330Q	R	+	2	0	ZNF292	88027070	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	1.499000	0.35671	2.659000	0.90383	0.585000	0.79938	CGA	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376192.2		+	ENST00000369577.3	Missense_Mutation	SNP	6 : 87970351 - 87970351 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	225	46
CCDC174	51244	broad.mit.edu	37	3	14703105	14703105	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14703105G>A	ENST00000383794.3	+	5	449	c.376G>A	c.(376-378)Gag>Aag	p.E126K	CCDC174_ENST00000303688.7_Missense_Mutation_p.E126K	NM_016474.4	NP_057558.3			coiled-coil domain containing 174	NA											NA						CAAAGAAATGGAGGCATCTGG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	121	123			NA	NA	3		NA											NA				14703105		2203	4300	6503	SO:0001583	missense			AF151046	CCDS2620.2	3p25.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000154781	ENSG00000154781	51244	51244			28033	protein-coding gene	gene with protein product			chromosome 3 open reading frame 19	C3orf19	NA	11042152	Standard	NM_016474	NM_016474	NA	Approved	FLJ33839	uc003byw.3	Q6PII3	OTTHUMG00000129837	ENST00000383794.3:c.376G>A	3.37:g.14703105G>A	ENSP00000373304:p.Glu126Lys	NA		37	CCDS2620.2	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509475	0.64522	.	.	ENSG00000154781	ENST00000383794;ENST00000303688;ENST00000285042	T;T	0.48836	0.8;0.86	5.65	1.65	0.23941	.	0.506471	0.22097	N	0.064676	T	0.24699	0.0599	N	0.20986	0.625	0.09310	N	0.999999	B	0.25441	0.126	B	0.18263	0.021	T	0.11397	-1.0589	10	0.13853	T	0.58	-19.5421	5.0934	0.14720	0.0857:0.4464:0.346:0.1219	.	126	Q6PII3	CC019_HUMAN	K	126;126;31	ENSP00000373304:E126K;ENSP00000302344:E126K	ENSP00000285042:E31K	E	+	1	0	C3orf19	14678109	0.946000	0.32159	0.157000	0.22605	0.936000	0.57629	2.108000	0.41854	0.717000	0.32145	0.467000	0.42956	GAG	CCDC174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252077.2		+	ENST00000383794.3	Missense_Mutation	SNP	3 : 14703105 - 14703105 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	732	30
SMC3	9126	broad.mit.edu	37	10	112335133	112335133	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:112335133G>A	ENST00000361804.4	+	4	296	c.170G>A	c.(169-171)cGt>cAt	p.R57H	SMC3_ENST00000462899.1_3'UTR	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	57					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AGTCATCTTCGTCCAGAACAG	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	130	132			NA	NA	10		NA											NA				112335133		2203	4300	6503	SO:0001583	missense			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055	9126	9126		Structural maintenance of chromosomes proteins, Proteoglycans / Extracellular Matrix : Other	2468	protein-coding gene	gene with protein product	bamacan proteoglycan	606062	chondroitin sulfate proteoglycan 6 (bamacan)	CSPG6	NA	9506951, 10358101	Standard	NM_005445	NM_005445	NA	Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.170G>A	10.37:g.112335133G>A	ENSP00000354720:p.Arg57His	NA	A8K156|O60464|Q5T482	37	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.823357	0.90873	.	.	ENSG00000108055	ENST00000361804	T	0.77229	-1.08	5.37	5.37	0.77165	RecF/RecN/SMC (1);	0.050875	0.85682	D	0.000000	D	0.89522	0.6739	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90974	0.4822	10	0.87932	D	0	.	16.4957	0.84242	0.0:0.1307:0.8693:0.0	.	57	Q9UQE7	SMC3_HUMAN	H	57	ENSP00000354720:R57H	ENSP00000354720:R57H	R	+	2	0	SMC3	112325123	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.323000	0.96364	2.677000	0.91161	0.467000	0.42956	CGT	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050337.1		+	ENST00000361804.4	Missense_Mutation	SNP	10 : 112335133 - 112335133 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	20
SPINK5	11005	broad.mit.edu	37	5	147486674	147486674	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147486674T>C	ENST00000359874.3	+	17	1627	c.1554T>C	c.(1552-1554)cgT>cgC	p.R518R	SPINK5_ENST00000398454.1_Silent_p.R518R|SPINK5_ENST00000256084.7_Silent_p.R518R	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	518	Kazal-like 8.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCTGTCCGTGGCCCAGATG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	156	157			NA	NA	5		NA											NA				147486674		2022	4183	6205	SO:0001819	synonymous_variant			AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710	11005	11005		Serine peptidase inhibitors, Kazal type	15464	protein-coding gene	gene with protein product	lymphoepithelial Kazal-type-related inhibitor	605010	serine protease inhibitor, Kazal type 5		NA	10419450	Standard	NM_001127698	NM_001127698	NA	Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000359874.3:c.1554T>C	5.37:g.147486674T>C		NA	A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	37	CCDS47300.1																																																																																			SPINK5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000259217.1		+	ENST00000359874.3	Silent	SNP	5 : 147486674 - 147486674 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	514	136
DYNC1H1	1778	broad.mit.edu	37	14	102446777	102446777	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102446777C>T	ENST00000360184.4	+	5	1015	c.851C>T	c.(850-852)gCg>gTg	p.A284V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	284	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTGGAACGTGCGTTATACCGC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	102	102			NA	NA	14		NA											NA				102446777		2203	4300	6503	SO:0001583	missense			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102	1778	1778		Cytoplasmic dyneins	2961	protein-coding gene	gene with protein product		600112	dynein, cytoplasmic, heavy polypeptide 1	DNECL, DNCL, DNCH1	NA	16260502, 8666668	Standard	NM_001376	NM_001376	NA	Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.851C>T	14.37:g.102446777C>T	ENSP00000348965:p.Ala284Val	NA	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.828299	0.90955	.	.	ENSG00000197102	ENST00000360184	T	0.57436	0.4	5.24	5.24	0.73138	Dynein heavy chain, domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.79499	0.4456	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.82104	-0.0622	10	0.41790	T	0.15	.	19.1779	0.93611	0.0:1.0:0.0:0.0	.	284	Q14204	DYHC1_HUMAN	V	284	ENSP00000348965:A284V	ENSP00000348965:A284V	A	+	2	0	DYNC1H1	101516530	1.000000	0.71417	0.889000	0.34880	0.305000	0.27757	7.383000	0.79741	2.601000	0.87937	0.591000	0.81541	GCG	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414574.1		+	ENST00000360184.4	Missense_Mutation	SNP	14 : 102446777 - 102446777 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	45
FAM83G	644815	broad.mit.edu	37	17	18881887	18881887	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18881887G>T	ENST00000388995.6	-	5	1315	c.1092C>A	c.(1090-1092)tcC>tcA	p.S364S	SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000345041.4_Silent_p.S364S|FAM83G_ENST00000585154.2_Silent_p.S364S|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395643.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	364										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GCTTCTCAGAGGAGATCTTGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	61	59			NA	NA	17		NA											NA				18881887		1955	4151	6106	SO:0001819	synonymous_variant			AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522	644815	644815			32554	protein-coding gene	gene with protein product	protein associated with SMAD1	615886			NA	24554596	Standard		NM_001039999	NA	Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.1092C>A	17.37:g.18881887G>T		NA	Q3KQZ4|Q6ZW60	37	CCDS42276.1																																																																																			FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253108.4		-	ENST00000388995.6	Silent	SNP	17 : 18881887 - 18881887 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	392	74
WDR64	128025	broad.mit.edu	37	1	241959584	241959584	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241959584T>G	ENST00000366552.2	+	26	3281	c.3074T>G	c.(3073-3075)tTt>tGt	p.F1025C	WDR64_ENST00000437684.2_Missense_Mutation_p.F858C	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	1025										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			AGTCTAAGATTTCTTCCACTG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	90	94			NA	NA	1		NA											NA				241959584		2203	4300	6503	SO:0001583	missense			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843	128025	128025		WD repeat domain containing	26570	protein-coding gene	gene with protein product					NA		Standard	NM_144625	NM_144625	NA	Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.3074T>G	1.37:g.241959584T>G	ENSP00000355510:p.Phe1025Cys	NA	B1ANT0|Q7Z573|Q96LY9	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.17|11.17	1.560402|1.560402	0.27827|0.27827	.|.	.|.	ENSG00000162843|ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635|ENST00000425826	T;T;T|T	0.46819|0.34472	1.1;0.86;0.87|1.36	5.22|5.22	2.69|2.69	0.31865|0.31865	.|.	0.684160|0.684160	0.13676|0.13676	N|N	0.370531|0.370531	T|T	0.39963|0.39963	0.1098|0.1098	L|L	0.57536|0.57536	1.79|1.79	0.21325|0.21325	N|N	0.99972|0.99972	D;P|.	0.76494|.	0.999;0.947|.	P;P|.	0.59703|.	0.862;0.541|.	T|T	0.24693|0.24693	-1.0153|-1.0153	10|8	0.59425|0.48119	D|T	0.04|0.1	-7.4809|-7.4809	7.511|7.511	0.27573|0.27573	0.3467:0.0:0.0:0.6533|0.3467:0.0:0.0:0.6533	.|.	1025;578|.	B1ANS9;D1MPS4|.	WDR64_HUMAN;.|.	C|V	1025;858;629|504	ENSP00000355510:F1025C;ENSP00000402446:F858C;ENSP00000406656:F629C|ENSP00000406342:F504V	ENSP00000355510:F1025C|ENSP00000406342:F504V	F|F	+|+	2|1	0|0	WDR64|WDR64	240026207|240026207	0.996000|0.996000	0.38824|0.38824	0.599000|0.599000	0.28851|0.28851	0.041000|0.041000	0.13682|0.13682	0.723000|0.723000	0.25939|0.25939	0.897000|0.897000	0.36392|0.36392	-0.490000|-0.490000	0.04691|0.04691	TTT|TTC	WDR64-201	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding			+	ENST00000366552.2	Missense_Mutation	SNP	1 : 241959584 - 241959584 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	375	109
FAT1	2195	broad.mit.edu	37	4	187540331	187540331	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187540331C>A	ENST00000441802.2	-	10	7618	c.7409G>T	c.(7408-7410)gGa>gTa	p.G2470V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2470	Cadherin 22.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCTAAAAACTCCATCAGACAC	0.448		NA								HNSCC(5;0.00058)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(197;1040 2055 4143 4984 49344)							NA				0													201	199	199			NA	NA	4		NA											NA				187540331		1956	4144	6100	SO:0001583	missense			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857	2195	2195		Cadherins / Cadherin-related	3595	protein-coding gene	gene with protein product	cadherin-related family member 8	600976	FAT tumor suppressor (Drosophila) homolog, FAT tumor suppressor homolog 1 (Drosophila)	FAT	NA	8586420	Standard	NM_005245	XM_005262834	NA	Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7409G>T	4.37:g.187540331C>A	ENSP00000406229:p.Gly2470Val	NA		37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532735	0.64972	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.04502	3.61	5.09	5.09	0.68999	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	H	0.97390	3.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.58482	-0.7629	10	0.72032	D	0.01	.	19.0561	0.93066	0.0:1.0:0.0:0.0	.	2470	Q14517	FAT1_HUMAN	V	2470;2472	ENSP00000406229:G2470V	ENSP00000260147:G2472V	G	-	2	0	FAT1	187777325	1.000000	0.71417	0.984000	0.44739	0.491000	0.33493	7.609000	0.82925	2.810000	0.96702	0.650000	0.86243	GGA	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360209.3		-	ENST00000441802.2	Missense_Mutation	SNP	4 : 187540331 - 187540331 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1083	81
GCC1	79571	broad.mit.edu	37	7	127224652	127224652	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127224652C>T	ENST00000321407.2	-	1	1009	c.585G>A	c.(583-585)caG>caA	p.Q195Q	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	195						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCTCTAAGTCCTGTTTCATCT	0.527		NA									OREG0003809	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	106	103			NA	NA	7		NA											NA				127224652		2203	4300	6503	SO:0001819	synonymous_variant			AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562	79571	79571			19095	protein-coding gene	gene with protein product		607418	golgi coiled-coil 1		NA	10209125	Standard	NM_024523	NM_024523	NA	Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.585G>A	7.37:g.127224652C>T		1555	Q9H6N7	37	CCDS5796.1																																																																																			GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059911.3		-	ENST00000321407.2	Silent	SNP	7 : 127224652 - 127224652 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	741	139
SETD5	55209	broad.mit.edu	37	3	9506325	9506325	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9506325C>T	ENST00000406341.1	+	17	2883	c.2693C>T	c.(2692-2694)gCt>gTt	p.A898V	SETD5_ENST00000302463.6_Missense_Mutation_p.A800V|SETD5_ENST00000402466.1_Missense_Mutation_p.A800V|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000407969.1_Missense_Mutation_p.A917V|SETD5_ENST00000402198.1_Missense_Mutation_p.A898V			Q9C0A6	SETD5_HUMAN	SET domain containing 5	898										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CTTACTACTGCTAGTCGCTGC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	133	135			NA	NA	3		NA											NA				9506325		1985	4171	6156	SO:0001583	missense			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137	55209	55209			25566	protein-coding gene	gene with protein product		615743			NA	11214970	Standard	XM_371614	XM_005265299	NA	Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.2693C>T	3.37:g.9506325C>T	ENSP00000383939:p.Ala898Val	NA	Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	37	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362848	0.82353	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	D;D;D;D;D	0.93133	-2.85;-3.17;-2.85;-2.84;-3.17	5.05	5.05	0.67936	.	0.253628	0.38326	N	0.001729	D	0.89853	0.6835	N	0.19112	0.55	0.46954	D	0.999267	P;P;B;P	0.46952	0.887;0.767;0.427;0.884	B;B;B;B	0.43889	0.435;0.273;0.1;0.414	D	0.91383	0.5129	10	0.66056	D	0.02	-16.0861	19.2942	0.94115	0.0:1.0:0.0:0.0	.	567;800;898;917	B3KXG4;Q9C0A6-3;Q9C0A6;E7EWN3	.;.;SETD5_HUMAN;.	V	898;800;898;917;800	ENSP00000385852:A898V;ENSP00000384429:A800V;ENSP00000383939:A898V;ENSP00000384114:A917V;ENSP00000302028:A800V	ENSP00000302028:A800V	A	+	2	0	SETD5	9481325	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.155000	0.71833	2.724000	0.93272	0.655000	0.94253	GCT	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318425.1		+	ENST00000406341.1	Missense_Mutation	SNP	3 : 9506325 - 9506325 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	655	111
CAPZA3	93661	broad.mit.edu	37	12	18891833	18891833	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:18891833G>A	ENST00000317658.3	+	1	789	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	211					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GGACCTGAAAGAAAGCTTGGA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	67	67			NA	NA	12		NA											NA				18891833		2203	4300	6503	SO:0001583	missense			AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938	93661	93661			24205	protein-coding gene	gene with protein product		608722			NA	12029070	Standard	NM_033328	NM_033328	NA	Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.631G>A	12.37:g.18891833G>A	ENSP00000326238:p.Glu211Lys	NA	Q969J0	37	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941575	0.73557	.	.	ENSG00000177938	ENST00000317658	.	.	.	4.8	4.8	0.61643	.	0.298320	0.31123	N	0.008212	T	0.67599	0.2910	M	0.62723	1.935	0.44611	D	0.997587	P	0.51449	0.945	P	0.55055	0.767	T	0.70454	-0.4867	9	0.59425	D	0.04	-22.2472	14.7091	0.69215	0.0:0.0:1.0:0.0	.	211	Q96KX2	CAZA3_HUMAN	K	211	.	ENSP00000326238:E211K	E	+	1	0	CAPZA3	18783100	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.119000	0.50422	2.498000	0.84270	0.462000	0.41574	GAA	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401902.1		+	ENST00000317658.3	Missense_Mutation	SNP	12 : 18891833 - 18891833 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	249	55
OR2S2	56656	broad.mit.edu	37	9	35957155	35957155	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35957155G>A	ENST00000341959.2	-	1	996	c.941C>T	c.(940-942)cCa>cTa	p.P314L		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			GAAGCCTTTTGGTCTCAGCAG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(172;293 2036 17878 24427 30946)							NA				0													79	76	77			NA	NA	9		NA											NA				35957155		2203	4299	6502	SO:0001583	missense			AL135841	CCDS6596.2	9p13.3	2012-08-09			ENSG00000122718	ENSG00000122718	56656	56656		GPCR / Class A : Olfactory receptors	8276	protein-coding gene	gene with protein product					NA		Standard	NM_019897	NM_019897	NA	Approved		uc011lpi.2	Q9NQN1	OTTHUMG00000019891	ENST00000341959.2:c.941C>T	9.37:g.35957155G>A	ENSP00000344040:p.Pro314Leu	NA	Q2M3L0|Q6IF19|Q96R42	37	CCDS6596.2	.	.	.	.	.	.	.	.	.	.	G	10.45	1.354899	0.24512	.	.	ENSG00000122718	ENST00000341959	T	0.36520	1.25	3.94	-3.85	0.04243	.	1.656080	0.03819	N	0.267279	T	0.17023	0.0409	N	0.05510	-0.035	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20009	-1.0288	10	0.72032	D	0.01	.	2.3083	0.04180	0.1374:0.4289:0.1723:0.2615	.	314	Q9NQN1	OR2S1_HUMAN	L	314	ENSP00000344040:P314L	ENSP00000344040:P314L	P	-	2	0	OR2S2	35947155	0.022000	0.18835	0.000000	0.03702	0.005000	0.04900	-0.017000	0.12590	-0.723000	0.04915	-0.142000	0.14014	CCA	OR2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052400.2		-	ENST00000341959.2	Missense_Mutation	SNP	9 : 35957155 - 35957155 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	481	97
CCDC65	85478	broad.mit.edu	37	12	49314776	49314776	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49314776C>T	ENST00000266984.5	+	7	1317	c.1090C>T	c.(1090-1092)Ctg>Ttg	p.L364L	RP11-302B13.5_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Silent_p.L364L			Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	364										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AGAAAAAGTGCTGCCTTTTTA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	64	62			NA	NA	12		NA											NA				49314776		2203	4300	6503	SO:0001819	synonymous_variant				CCDS8772.1	12q13.12	2014-07-18			ENSG00000139537	ENSG00000139537	85478	85478			29937	protein-coding gene	gene with protein product		611088			NA	17089017, 21700706	Standard	NM_033124	NM_033124	NA	Approved	NYD-SP28, FLJ35732, FAP250, CILD27	uc001rso.3	Q8IXS2		ENST00000266984.5:c.1090C>T	12.37:g.49314776C>T		NA	A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	37																																																																																				CCDC65-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000408919.1		+	ENST00000266984.5	Silent	SNP	12 : 49314776 - 49314776 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	352	48
SDHA	6389	broad.mit.edu	37	5	235284	235284	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:235284G>A	ENST00000264932.6	+	9	1205	c.1090G>A	c.(1090-1092)Gtc>Atc	p.V364I	SDHA_ENST00000504309.1_Missense_Mutation_p.V364I|SDHA_ENST00000510361.1_Missense_Mutation_p.V316I	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	364					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GAAAGATCACGTCTACCTGCA	0.567		NA							Familial Paragangliomas					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ILE/VAL	0,4406		0,0,2203	59	53	55		1090	5.1	1	5		55	1,8595		0,1,4297	no	missense	SDHA	NM_004168.2	29	0,1,6500	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	364/665	235284	1,13001	2203	4298	6501	SO:0001583	missense	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578	6389	6389		Mitochondrial respiratory chain complex / Complex II	10680	protein-coding gene	gene with protein product		600857		SDH2	NA	7798181	Standard	NM_004168	XM_005248329	NA	Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1090G>A	5.37:g.235284G>A	ENSP00000264932:p.Val364Ile	NA	A8K5J6|Q16395|Q9UMY5	37	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	N	10.43	1.347429	0.24426	0.0	1.16E-4	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	T;T;T	0.71698	-0.59;-0.59;-0.59	5.12	5.12	0.69794	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.000000	0.64402	U	0.000002	T	0.53449	0.1797	N	0.17764	0.52	0.80722	D	1	B;B;B;B;B	0.26602	0.154;0.05;0.002;0.001;0.001	B;B;B;B;B	0.27500	0.08;0.04;0.013;0.009;0.009	T	0.51888	-0.8648	10	0.02654	T	1	.	16.4201	0.83755	0.0:0.0:1.0:0.0	.	316;364;364;364;370	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	I	364;219;364;316	ENSP00000264932:V364I;ENSP00000426514:V364I;ENSP00000427703:V316I	ENSP00000264932:V364I	V	+	1	0	SDHA	288284	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.024000	0.93689	2.541000	0.85698	0.557000	0.71058	GTC	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206599.1		+	ENST00000264932.6	Missense_Mutation	SNP	5 : 235284 - 235284 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	341	35
ZFHX3	463	broad.mit.edu	37	16	72828120	72828120	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72828120C>A	ENST00000268489.5	-	9	9133	c.8461G>T	c.(8461-8463)Gtt>Ttt	p.V2821F	ZFHX3_ENST00000397992.5_Missense_Mutation_p.V1907F	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2821					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTTAGATTAACTGAGGACATG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	131	136			NA	NA	16		NA											NA				72828120		2198	4300	6498	SO:0001583	missense			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836	463	463		Zinc fingers, C2H2-type, Homeoboxes / ZF class	777	protein-coding gene	gene with protein product		104155	AT-binding transcription factor 1	ATBF1	NA	1719379, 7592926	Standard	NM_006885	NM_006885	NA	Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.8461G>T	16.37:g.72828120C>A	ENSP00000268489:p.Val2821Phe	NA	D3DWS8|O15101|Q13719	37	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.363561	0.24684	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74526	-0.85;-0.83	5.96	5.96	0.96718	.	0.000000	0.45126	D	0.000396	D	0.83004	0.5160	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.82592	-0.0381	10	0.59425	D	0.04	.	20.4043	0.99006	0.0:1.0:0.0:0.0	.	2821	Q15911	ZFHX3_HUMAN	F	2821;1907	ENSP00000268489:V2821F;ENSP00000438926:V1907F	ENSP00000268489:V2821F	V	-	1	0	ZFHX3	71385621	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	4.849000	0.62882	2.823000	0.97156	0.650000	0.86243	GTT	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269008.1		-	ENST00000268489.5	Missense_Mutation	SNP	16 : 72828120 - 72828120 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	620	40
POGK	57645	broad.mit.edu	37	1	166819057	166819057	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166819057A>G	ENST00000367875.1	+	5	1601	c.1241A>G	c.(1240-1242)tAc>tGc	p.Y414C	POGK_ENST00000536514.1_Missense_Mutation_p.Y329C|POGK_ENST00000367876.4_Missense_Mutation_p.Y414C|POGK_ENST00000537173.1_Missense_Mutation_p.Y296C			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	414	DDE.				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						TTACCACCGTACATCATTTTG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(76;192 1530 30153 48742)							NA				0													75	68	70			NA	NA	1		NA											NA				166819057		2203	4300	6503	SO:0001583	missense			AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157	57645	57645		-	18800	protein-coding gene	gene with protein product	KRAB box domain containing 2				NA		Standard	NM_017542	NM_017542	NA	Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.1241A>G	1.37:g.166819057A>G	ENSP00000356849:p.Tyr414Cys	NA	Q8TE07	37	CCDS1254.1	.	.	.	.	.	.	.	.	.	.	A	10.97	1.500626	0.26861	.	.	ENSG00000143157	ENST00000537173;ENST00000536514;ENST00000367876;ENST00000367875	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.5	4.36	0.52297	.	0.000000	0.46145	D	0.000308	T	0.30947	0.0781	L	0.27053	0.805	0.40234	D	0.977881	P;D;D	0.65815	0.461;0.995;0.992	B;D;P	0.68039	0.343;0.955;0.75	T	0.21724	-1.0237	8	.	.	.	-29.3824	8.3146	0.32093	0.6828:0.0:0.0:0.3172	.	296;329;414	G3V1P0;B4DS22;Q9P215	.;.;POGK_HUMAN	C	296;329;414;414	ENSP00000442763:Y296C;ENSP00000441187:Y329C;ENSP00000356850:Y414C;ENSP00000356849:Y414C	.	Y	+	2	0	POGK	165085681	0.999000	0.42202	0.879000	0.34478	0.341000	0.28922	2.486000	0.45259	1.079000	0.41038	0.533000	0.62120	TAC	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000082888.1		+	ENST00000367875.1	Missense_Mutation	SNP	1 : 166819057 - 166819057 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	293	44
RPL10L	140801	broad.mit.edu	37	14	47120482	47120482	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:47120482C>T	ENST00000298283.3	-	1	546	c.458G>A	c.(457-459)cGc>cAc	p.R153H		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	153					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CTTGGCCCTGCGCAAGGCTTC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	85	85			NA	NA	14		NA											NA				47120482		2203	4300	6503	SO:0001583	missense			AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496	140801	140801		L ribosomal proteins	17976	protein-coding gene	gene with protein product					NA	19123937	Standard		NM_080746	NA	Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.458G>A	14.37:g.47120482C>T	ENSP00000298283:p.Arg153His	NA	Q8IUD1	37	CCDS32071.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419639	0.62622	.	.	ENSG00000165496	ENST00000298283	T	0.74947	-0.89	4.57	4.57	0.56435	Ribosomal protein L10e/L16 (2);	0.242055	0.39909	N	0.001228	T	0.82181	0.4981	H	0.95470	3.675	0.80722	D	1	B	0.06786	0.001	B	0.15052	0.012	T	0.82851	-0.0253	10	0.59425	D	0.04	-28.0503	15.6671	0.77238	0.0:1.0:0.0:0.0	.	153	Q96L21	RL10L_HUMAN	H	153	ENSP00000298283:R153H	ENSP00000298283:R153H	R	-	2	0	RPL10L	46190232	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	6.929000	0.75852	2.824000	0.97209	0.655000	0.94253	CGC	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349819.1		-	ENST00000298283.3	Missense_Mutation	SNP	14 : 47120482 - 47120482 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	533	111
HSPA5	3309	broad.mit.edu	37	9	128001387	128001387	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128001387C>A	ENST00000324460.6	-	5	1032	c.829G>T	c.(829-831)Gat>Tat	p.D277Y		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	277					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	p.D277Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	TTCCTGACATCTTTGCCCGTC	0.468		NA								Prostate(1;0.17)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											79	78	78			NA	NA	9		NA											NA				128001387		2203	4300	6503	SO:0001583	missense				CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574	3309	3309		Heat shock proteins / HSP70	5238	protein-coding gene	gene with protein product		138120	heat shock 70kD protein 5 (glucose-regulated protein, 78kD)	GRP78	NA		Standard		NM_005347	NA	Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.829G>T	9.37:g.128001387C>A	ENSP00000324173:p.Asp277Tyr	NA	B0QZ61|Q2EF78|Q9NPF1|Q9UK02	37	CCDS6863.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697494	0.68386	.	.	ENSG00000044574	ENST00000324460	T	0.01705	4.68	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.12347	0.0300	H	0.99475	4.585	0.80722	D	1	P	0.44044	0.825	B	0.43728	0.429	T	0.37009	-0.9724	10	0.87932	D	0	-12.4	15.4514	0.75277	0.0:1.0:0.0:0.0	.	277	P11021	GRP78_HUMAN	Y	277	ENSP00000324173:D277Y	ENSP00000324173:D277Y	D	-	1	0	HSPA5	127041208	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	7.795000	0.85887	1.864000	0.54056	0.462000	0.41574	GAT	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054062.1		-	ENST00000324460.6	Missense_Mutation	SNP	9 : 128001387 - 128001387 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	387	57
LRP1B	53353	broad.mit.edu	37	2	141200074	141200074	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141200074G>A	ENST00000389484.3	-	66	11384	c.10413C>T	c.(10411-10413)tgC>tgT	p.C3471C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3471	LDL-receptor class A 24.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GACACTCACCGCAGTTGGCCT	0.448		NA								TSP Lung(27;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(99;50 2074 2507 20106)							NA				0													140	127	131			NA	NA	2		NA											NA				141200074		2203	4300	6503	SO:0001630	splice_region_variant			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702	53353	53353		Low density lipoprotein receptors	6693	protein-coding gene	gene with protein product	LRP-deleted in tumors	608766			NA	10766186	Standard	NM_018557	NM_018557	NA	Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10414+1C>T	2.37:g.141200074G>A		NA	Q8WY29|Q8WY30|Q8WY31	37	CCDS2182.1																																																																																			LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254736.2	Silent	-	ENST00000389484.3	Splice_Site	SNP	2 : 141200074 - 141200074 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	466	132
ARHGAP29	9411	broad.mit.edu	37	1	94668169	94668169	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94668169G>A	ENST00000260526.6	-	11	1256	c.1074C>T	c.(1072-1074)ggC>ggT	p.G358G	ARHGAP29_ENST00000370217.3_Silent_p.G358G	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	358					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTGCTAATCCGCCACTTGAAG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	135	138			NA	NA	1		NA											NA				94668169		2203	4300	6503	SO:0001819	synonymous_variant				CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962	9411	9411		Rho GTPase activating proteins	30207	protein-coding gene	gene with protein product		610496			NA	9305890	Standard	NM_004815	NM_004815	NA	Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.1074C>T	1.37:g.94668169G>A		NA	O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	37	CCDS748.1																																																																																			ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029376.2		-	ENST00000260526.6	Silent	SNP	1 : 94668169 - 94668169 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	721	153
HLA-F	3134	broad.mit.edu	37	6	29691495	29691495	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29691495G>A	ENST00000376861.1	+	3	509	c.125G>A	c.(124-126)cGc>cAc	p.R42H	HLA-F_ENST00000259951.7_Missense_Mutation_p.R42H|HLA-F_ENST00000334668.4_Missense_Mutation_p.R42H|HLA-F_ENST00000434407.2_Missense_Mutation_p.R42H|HLA-F_ENST00000440587.2_5'UTR			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	42	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GGGGAGCCCCGCTACATCGCC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	22	21			NA	NA	6		NA											NA				29691495		1480	2692	4172	SO:0001583	missense			AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642	3134	3134		Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing	4963	protein-coding gene	gene with protein product		143110			NA	1688605	Standard	NM_018950	NM_018950	NA	Approved		uc003nno.4	P30511	OTTHUMG00000031156	ENST00000376861.1:c.125G>A	6.37:g.29691495G>A	ENSP00000366057:p.Arg42His	NA	Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	37	CCDS43438.1	.	.	.	.	.	.	.	.	.	.	.	3.867	-0.028772	0.07589	.	.	ENSG00000204642	ENST00000376861;ENST00000414333;ENST00000449921;ENST00000334668;ENST00000259951;ENST00000399258;ENST00000434407	T;T;T;T;T	0.00856	9.34;5.61;9.34;9.34;9.34	1.63	0.666	0.17901	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.288637	0.18382	U	0.142933	T	0.01905	0.0060	M	0.90198	3.095	0.21675	N	0.999592	P;D;D;D	0.76494	0.837;0.999;0.996;0.998	B;D;B;D	0.70716	0.228;0.916;0.198;0.97	T	0.36016	-0.9765	10	0.87932	D	0	.	4.0933	0.09980	0.2471:0.0:0.7529:0.0	.	42;42;42;42	A8MVU7;P30511;P30511-3;P30511-2	.;HLAF_HUMAN;.;.	H	42	ENSP00000366057:R42H;ENSP00000389590:R42H;ENSP00000334263:R42H;ENSP00000259951:R42H;ENSP00000397376:R42H	ENSP00000259951:R42H	R	+	2	0	HLA-F	29799474	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.327000	0.07955	0.015000	0.14971	0.436000	0.28706	CGC	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195083.1		+	ENST00000376861.1	Missense_Mutation	SNP	6 : 29691495 - 29691495 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	198	8
RAD51D	5892	broad.mit.edu	37	17	33434103	33434103	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33434103C>T	ENST00000345365.6	-	5	639	c.384G>A	c.(382-384)ctG>ctA	p.L128L	RAD51D_ENST00000590380.1_Intron|RAD51D_ENST00000335858.7_Intron|RAD51L3-RFFL_ENST00000593039.1_Intron|RAD51D_ENST00000394589.4_Silent_p.L128L|RAD51D_ENST00000590016.1_Silent_p.L148L|RAD51D_ENST00000460118.2_Silent_p.L9L|RAD51D_ENST00000360276.3_Intron	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN	RAD51 paralog D	128					DNA repair|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CGTTTTGCTGCAGGCCATGGG	0.547		NA						Direct reversal of damage						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	90	92			NA	NA	17		NA											NA				33434103		2203	4300	6503	SO:0001819	synonymous_variant			AF034956	CCDS11287.1, CCDS11288.1, CCDS45646.1	17q11	2014-09-17	2013-07-02	2011-07-01	ENSG00000185379	ENSG00000185379	5892	5892			9823	protein-coding gene	gene with protein product	recombination repair protein, DNA repair protein RAD51 homolog 4	602954	RAD51 (S. cerevisiae)-like 3, RAD51-like 3 (S. cerevisiae), RAD51 homolog D (S. cerevisiae)	RAD51L3	NA	9570954	Standard	NM_002878	NM_001142571	NA	Approved	R51H3, Trad, HsTRAD	uc010ctj.2	O75771	OTTHUMG00000132930	ENST00000345365.6:c.384G>A	17.37:g.33434103C>T		NA	E1P637|O43537|O60355|O75196|O75847|O75848|O76073|O76085|O94908|Q9UFU5	37	CCDS11287.1																																																																																			RAD51D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256446.1		-	ENST00000345365.6	Silent	SNP	17 : 33434103 - 33434103 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	557	95
MAB21L2	10586	broad.mit.edu	37	4	151504591	151504591	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151504591C>T	ENST00000317605.4	+	1	1515	c.410C>T	c.(409-411)gCc>gTc	p.A137V	LRBA_ENST00000357115.3_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000510413.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	137					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		ACGCTGGTGGCCCAGGCGGTG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	99	100			NA	NA	4		NA											NA				151504591		2203	4300	6503	SO:0001583	missense			AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541	10586	10586			6758	protein-coding gene	gene with protein product		604357	mab-21 (C. elegans)-like 2		NA		Standard	NM_006439	NM_006439	NA	Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.410C>T	4.37:g.151504591C>T	ENSP00000324701:p.Ala137Val	NA	B3KP37|Q9HBA7	37	CCDS3774.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657904	0.88154	.	.	ENSG00000181541	ENST00000317605	T	0.08634	3.07	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.31071	0.0785	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.01393	-1.1366	10	0.27082	T	0.32	-11.1366	19.4696	0.94958	0.0:1.0:0.0:0.0	.	137	Q9Y586	MB212_HUMAN	V	137	ENSP00000324701:A137V	ENSP00000324701:A137V	A	+	2	0	MAB21L2	151724041	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.590000	0.87494	0.561000	0.74099	GCC	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364937.1		+	ENST00000317605.4	Missense_Mutation	SNP	4 : 151504591 - 151504591 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	633	129
PLEC	5339	broad.mit.edu	37	8	144992998	144992998	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144992998T>C	ENST00000322810.4	-	32	11571	c.11402A>G	c.(11401-11403)aAc>aGc	p.N3801S	PLEC_ENST00000356346.3_Missense_Mutation_p.N3650S|PLEC_ENST00000436759.2_Missense_Mutation_p.N3691S|PLEC_ENST00000357649.2_Missense_Mutation_p.N3668S|PLEC_ENST00000354958.2_Missense_Mutation_p.N3642S|PLEC_ENST00000345136.3_Missense_Mutation_p.N3664S|PLEC_ENST00000398774.2_Missense_Mutation_p.N3632S|PLEC_ENST00000354589.3_Missense_Mutation_p.N3664S|PLEC_ENST00000527096.1_Missense_Mutation_p.N3687S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3801	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCGGAGCAGGTTGTAGGTCTC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	40	38			NA	NA	8		NA											NA				144992998		2010	4159	6169	SO:0001583	missense			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209	5339	5339			9069	protein-coding gene	gene with protein product		601282	plectin 1, intermediate filament binding protein, 500kD, epidermolysis bullosa simplex 1 (Ogna), plectin 1, intermediate filament binding protein 500kDa	EBS1, PLEC1	NA	8633055, 8696340	Standard	NM_000445	XM_005250976	NA	Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.11402A>G	8.37:g.144992998T>C	ENSP00000323856:p.Asn3801Ser	NA	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	T	10.83	1.460107	0.26248	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29	4.25	1.7	0.24286	.	0.081077	0.47093	N	0.000254	T	0.60392	0.2265	M	0.65498	2.005	0.39526	D	0.968589	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.04013	0.001;0.001;0.001;0.0;0.001;0.001;0.001;0.001	T	0.55140	-0.8187	10	0.40728	T	0.16	.	9.5558	0.39337	0.0:0.1089:0.0:0.8911	.	3691;3650;3642;3801;3632;3664;3668;3664	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	S	3664;3668;3664;3632;3801;3642;3650;3691;3687	ENSP00000344848:N3664S;ENSP00000350277:N3668S;ENSP00000346602:N3664S;ENSP00000381756:N3632S;ENSP00000323856:N3801S;ENSP00000347044:N3642S;ENSP00000348702:N3650S;ENSP00000388180:N3691S;ENSP00000434583:N3687S	ENSP00000323856:N3801S	N	-	2	0	PLEC	145064986	1.000000	0.71417	0.940000	0.37924	0.948000	0.59901	1.617000	0.36943	0.154000	0.19237	0.368000	0.22195	AAC	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383281.1		-	ENST00000322810.4	Missense_Mutation	SNP	8 : 144992998 - 144992998 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	386	45
CCDC90B	60492	broad.mit.edu	37	11	82976975	82976975	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82976975T>C	ENST00000529689.1	-	8	1075	c.641A>G	c.(640-642)gAc>gGc	p.D214G	CCDC90B_ENST00000525503.1_Missense_Mutation_p.D113G|CCDC90B_ENST00000529611.1_Missense_Mutation_p.D113G|CCDC90B_ENST00000529073.1_Missense_Mutation_p.T203A|CCDC90B_ENST00000525504.1_5'UTR|CCDC90B_ENST00000455220.2_Missense_Mutation_p.D205G			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B	214						integral to membrane|mitochondrion				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				AATTTCAGCGTCAATTTTATT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	136	137			NA	NA	11		NA											NA				82976975		2202	4298	6500	SO:0001583	missense			BC048795	CCDS8266.1, CCDS66190.1, CCDS66191.1	11q14.1	2006-10-23			ENSG00000137500	ENSG00000137500	60492	60492			28108	protein-coding gene	gene with protein product					NA	11230166	Standard	NM_021825	XM_005274154	NA	Approved	MDS025, MDS011	uc001pae.3	Q9GZT6	OTTHUMG00000167078	ENST00000529689.1:c.641A>G	11.37:g.82976975T>C	ENSP00000434724:p.Asp214Gly	NA	A8K8I4|B4E3L2|Q3B781|Q9GZU6	37	CCDS8266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.9|27.9	4.876845|4.876845	0.91664|0.91664	.|.	.|.	ENSG00000137500|ENSG00000137500	ENST00000529689;ENST00000455220;ENST00000525503;ENST00000529611|ENST00000529073	T;T;T;T|T	0.61627|0.32023	0.09;0.09;0.09;0.09|1.47	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.087407|.	0.85682|.	D|.	0.000000|.	T|T	0.58509|0.58509	0.2127|0.2127	M|M	0.88105|0.88105	2.93|2.93	0.32384|0.32384	N|N	0.554177|0.554177	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.73285|0.73285	-0.4031|-0.4031	9|6	.|.	.|.	.|.	-12.0863|-12.0863	15.933|15.933	0.79679|0.79679	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	205;214|.	Q9GZT6-2;Q9GZT6|.	.;CC90B_HUMAN|.	G|A	214;205;113;113|203	ENSP00000434724:D214G;ENSP00000390990:D205G;ENSP00000431424:D113G;ENSP00000431345:D113G|ENSP00000431523:T203A	.|.	D|T	-|-	2|1	0|0	CCDC90B|CCDC90B	82654623|82654623	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.044000|7.044000	0.76578|0.76578	2.155000|2.155000	0.67459|0.67459	0.460000|0.460000	0.39030|0.39030	GAC|ACG	CCDC90B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392940.2		-	ENST00000529689.1	Missense_Mutation	SNP	11 : 82976975 - 82976975 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	431	74
PTCH1	5727	broad.mit.edu	37	9	98209400	98209400	+	Missense_Mutation	SNP	C	C	T	rs111481152		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:98209400C>T	ENST00000430669.2	-	23	4525	c.3940G>A	c.(3940-3942)Gcc>Acc	p.A1314T	PTCH1_ENST00000331920.6_Missense_Mutation_p.A1380T|PTCH1_ENST00000418258.1_Missense_Mutation_p.A1229T|PTCH1_ENST00000437951.1_Missense_Mutation_p.A1314T|PTCH1_ENST00000375274.2_Missense_Mutation_p.A1379T|PTCH1_ENST00000429896.2_Missense_Mutation_p.A1229T|PTCH1_ENST00000421141.1_Missense_Mutation_p.A1229T			Q13635	PTC1_HUMAN	patched 1	1380					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GGGTGCACGGCGACAGTCACG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4402		0,0,2201	26	31	29		4138,3940,4135,3685,3685,3685,3685	5.1	0.1	9	dbSNP_132	29	1,8591		0,1,4295	no	missense,missense,missense,missense,missense,missense,missense	PTCH1	NM_000264.3,NM_001083602.1,NM_001083603.1,NM_001083604.1,NM_001083605.1,NM_001083606.1,NM_001083607.1	58,58,58,58,58,58,58	0,1,6496	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1380/1448,1314/1382,1379/1447,1229/1297,1229/1297,1229/1297,1229/1297	98209400	1,12993	2201	4296	6497	SO:0001583	missense			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920	5727	5727			9585	protein-coding gene	gene with protein product		601309	patched (Drosophila) homolog, patched homolog (Drosophila), patched homolog 1 (Drosophila)	NBCCS, PTCH	NA	8658145	Standard	NM_000264	NM_001083603	NA	Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000430669.2:c.3940G>A	9.37:g.98209400C>T	ENSP00000410287:p.Ala1314Thr	NA	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	37	CCDS47996.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744437	0.69418	0.0	1.16E-4	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000375284;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.93426	-3.21;-3.17;-3.18;-3.18;-3.17;-3.18;-3.22	5.12	5.12	0.69794	.	0.052411	0.85682	D	0.000000	D	0.93697	0.7986	L	0.55481	1.735	0.80722	D	1	P;D;D	0.60160	0.943;0.987;0.978	B;P;B	0.49637	0.399;0.617;0.413	D	0.94295	0.7532	10	0.72032	D	0.01	-22.9428	18.7592	0.91843	0.0:1.0:0.0:0.0	.	1314;1379;1380	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	T	1380;1314;1229;1229;1314;172;1229;1379	ENSP00000332353:A1380T;ENSP00000389744:A1314T;ENSP00000399981:A1229T;ENSP00000396135:A1229T;ENSP00000410287:A1314T;ENSP00000414823:A1229T;ENSP00000364423:A1379T	ENSP00000332353:A1380T	A	-	1	0	PTCH1	97249221	1.000000	0.71417	0.075000	0.20258	0.104000	0.19210	7.608000	0.82898	2.659000	0.90383	0.655000	0.94253	GCC	PTCH1-003	KNOWN	not_organism_supported|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053231.2		-	ENST00000430669.2	Missense_Mutation	SNP	9 : 98209400 - 98209400 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	481	17
SEZ6	124925	broad.mit.edu	37	17	27283229	27283229	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27283229T>C	ENST00000317338.12	-	16	3328	c.2900A>G	c.(2899-2901)tAc>tGc	p.Y967C	SEZ6_ENST00000335960.6_Silent_p.L499L|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000360295.9_Missense_Mutation_p.Y967C|SEZ6_ENST00000442608.3_Missense_Mutation_p.Y954C			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	967						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			AATGCGGTTGTAggggcgggg	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	21	20			NA	NA	17		NA											NA				27283229		2116	4245	6361	SO:0001583	missense			AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015	124925	124925			15955	protein-coding gene	gene with protein product			seizure related gene 6 (mouse) homolog		NA	17086543	Standard		NM_178860	NA	Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.2900A>G	17.37:g.27283229T>C	ENSP00000312942:p.Tyr967Cys	NA	B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	37	CCDS45639.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.177799	0.57692	.	.	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000540632	T	0.42131	0.98	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.66436	0.2789	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.87578	0.998;0.905	T	0.71702	-0.4513	10	0.87932	D	0	.	14.3395	0.66617	0.0:0.0:0.0:1.0	.	967;967	Q53EL9-3;Q53EL9	.;SEZ6_HUMAN	C	967;967;842;84	ENSP00000353440:Y967C	ENSP00000312942:Y842C	Y	-	2	0	SEZ6	24307355	1.000000	0.71417	0.987000	0.45799	0.939000	0.58152	4.466000	0.60148	2.055000	0.61198	0.402000	0.26972	TAC	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397475.3		-	ENST00000317338.12	Missense_Mutation	SNP	17 : 27283229 - 27283229 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	122	24
CPNE4	131034	broad.mit.edu	37	3	131274360	131274360	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:131274360C>A	ENST00000512055.1	-	16	3223	c.1097G>T	c.(1096-1098)aGg>aTg	p.R366M	CPNE4_ENST00000511604.1_Missense_Mutation_p.R366M|CPNE4_ENST00000502818.1_Missense_Mutation_p.R384M|CPNE4_ENST00000429747.1_Missense_Mutation_p.R366M|CPNE4_ENST00000512332.1_Missense_Mutation_p.R384M			Q96A23	CPNE4_HUMAN	copine IV	366	VWFA.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TGGAGGTATCCTGGCGCCAAA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	103	109			NA	NA	3		NA											NA				131274360		2203	4300	6503	SO:0001583	missense			H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353	131034	131034			2317	protein-coding gene	gene with protein product	copine 8	604208			NA	9430674, 12670487	Standard	NM_130808	XM_005247107	NA	Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.1097G>T	3.37:g.131274360C>A	ENSP00000421705:p.Arg366Met	NA	D3DNC5|Q8TEX1	37	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916781	0.73098	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	5.51	5.51	0.81932	von Willebrand factor, type A (1);Copine (1);	0.198870	0.53938	D	0.000053	T	0.55289	0.1911	M	0.90019	3.08	0.50313	D	0.999867	P;D	0.58268	0.745;0.982	P;P	0.56788	0.747;0.806	T	0.65582	-0.6133	10	0.87932	D	0	-26.6481	18.1887	0.89800	0.0:1.0:0.0:0.0	.	384;366	Q96A23-2;Q96A23	.;CPNE4_HUMAN	M	366;366;384;366;384	ENSP00000421705:R366M;ENSP00000411904:R366M;ENSP00000424853:R384M;ENSP00000423811:R366M;ENSP00000421646:R384M	ENSP00000411904:R366M	R	-	2	0	CPNE4	132757050	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.207000	0.42788	2.580000	0.87095	0.655000	0.94253	AGG	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356583.4		-	ENST00000512055.1	Missense_Mutation	SNP	3 : 131274360 - 131274360 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	156	24
EPG5	57724	broad.mit.edu	37	18	43438734	43438734	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43438734C>A	ENST00000282041.5	-	41	7057	c.7023G>T	c.(7021-7023)caG>caT	p.Q2341H	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2341					autophagy			p.Q2341H(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ATCCTGAATTCTGATTGAGAG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											54	51	52			NA	NA	18		NA											NA				43438734		1856	4109	5965	SO:0001583	missense			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223	57724	57724			29331	protein-coding gene	gene with protein product		615068	KIAA1632	KIAA1632	NA	10997877, 20550938	Standard	NM_020964	XM_005258323	NA	Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.7023G>T	18.37:g.43438734C>A	ENSP00000282041:p.Gln2341His	NA	A2BDF3|Q9H8C8	37	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	11.59	1.682618	0.29872	.	.	ENSG00000152223	ENST00000282041;ENST00000540322;ENST00000308403	T	0.10573	2.86	5.92	-2.62	0.06152	.	.	.	.	.	T	0.08626	0.0214	L	0.43152	1.355	0.22081	N	0.999372	B	0.24920	0.114	B	0.21917	0.037	T	0.34502	-0.9826	9	0.49607	T	0.09	-9.0147	6.6056	0.22724	0.212:0.4535:0.0:0.3344	.	2341	Q9HCE0	EPG5_HUMAN	H	2341;269;1216	ENSP00000282041:Q2341H	ENSP00000282041:Q2341H	Q	-	3	2	EPG5	41692732	0.940000	0.31905	0.113000	0.21522	0.745000	0.42441	0.071000	0.14594	-0.302000	0.08869	-0.367000	0.07326	CAG	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445081.1		-	ENST00000282041.5	Missense_Mutation	SNP	18 : 43438734 - 43438734 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	251	47
IGFBP2	3485	broad.mit.edu	37	2	217526595	217526595	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217526595G>A	ENST00000456764.1	+	3	374	c.255G>A	c.(253-255)caG>caA	p.Q85Q	IGFBP2_ENST00000233809.4_Silent_p.Q229Q			P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2, 36kDa	229	IGFBP N-terminal.				positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway	extracellular space	insulin-like growth factor I binding|insulin-like growth factor II binding			endometrium(2)|large_intestine(1)|lung(2)	5		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		CCTGCCAACAGGAACTGGACC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	51	49			NA	NA	2		NA											NA				217526595		2177	4273	6450	SO:0001819	synonymous_variant				CCDS42815.1	2q35	2014-09-16	2002-08-29		ENSG00000115457	ENSG00000115457	3485	3485			5471	protein-coding gene	gene with protein product		146731	insulin-like growth factor binding protein 2 (36kD)	IBP2	NA	1697583	Standard	NM_000597	NM_000597	NA	Approved		uc021vwn.1	P18065	OTTHUMG00000155341	ENST00000456764.1:c.255G>A	2.37:g.217526595G>A		NA	Q14619|Q9UCL3	37		.	.	.	.	.	.	.	.	.	.	G	15.10	2.733021	0.48939	.	.	ENSG00000115457	ENST00000436812	.	.	.	4.6	0.0849	0.14439	.	.	.	.	.	T	0.63943	0.2554	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64296	-0.6441	5	0.87932	D	0	-4.1961	9.88	0.41227	0.2733:0.0:0.7267:0.0	.	.	.	.	K	52	.	ENSP00000400308:R52K	R	+	2	0	IGFBP2	217234840	1.000000	0.71417	0.846000	0.33378	0.969000	0.65631	5.169000	0.64984	-0.102000	0.12197	0.655000	0.94253	AGG	IGFBP2-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000339543.1		+	ENST00000456764.1	Silent	SNP	2 : 217526595 - 217526595 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	233	48
SDK1	221935	broad.mit.edu	37	7	4285374	4285374	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4285374C>T	ENST00000389531.3	+	43	6258	c.6258C>T	c.(6256-6258)aaC>aaT	p.N2086N	SDK1_ENST00000404826.2_Silent_p.N2106N|SDK1_ENST00000466611.1_3'UTR			Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	2106					cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACAAGTACAACGGCGCCGTGC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	76	80			NA	NA	7		NA											NA				4285374		2203	4300	6503	SO:0001819	synonymous_variant			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555	221935	221935		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	19307	protein-coding gene	gene with protein product		607216	sidekick homolog 1 (chicken), sidekick homolog 1, cell adhesion molecule (chicken)		NA	12230981, 17307840, 15213259	Standard	NM_152744	NM_001079653	NA	Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000389531.3:c.6258C>T	7.37:g.4285374C>T		NA	Q8TEN9|Q8TEP5|Q96N44	37																																																																																				SDK1-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000323705.2		+	ENST00000389531.3	Silent	SNP	7 : 4285374 - 4285374 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	432	71
FREM2	341640	broad.mit.edu	37	13	39263542	39263542	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39263542G>T	ENST00000280481.7	+	1	2277	c.2061G>T	c.(2059-2061)caG>caT	p.Q687H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	687					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCGGGCTACAGCGGTTTGTGA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	84	84			NA	NA	13		NA											NA				39263542		2203	4300	6503	SO:0001583	missense			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893	341640	341640			25396	protein-coding gene	gene with protein product		608945			NA	15345741	Standard	NM_207361	NM_207361	NA	Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2061G>T	13.37:g.39263542G>T	ENSP00000280481:p.Gln687His	NA	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	0.136	-1.108269	0.01813	.	.	ENSG00000150893	ENST00000280481	T	0.26373	1.74	5.97	0.709	0.18150	.	0.217752	0.49916	N	0.000137	T	0.12135	0.0295	N	0.26042	0.785	0.22754	N	0.998775	B	0.02656	0.0	B	0.04013	0.001	T	0.36187	-0.9758	10	0.06099	T	0.92	.	7.0458	0.25044	0.2654:0.2226:0.512:0.0	.	687	Q5SZK8	FREM2_HUMAN	H	687	ENSP00000280481:Q687H	ENSP00000280481:Q687H	Q	+	3	2	FREM2	38161542	0.899000	0.30636	0.853000	0.33588	0.926000	0.56050	1.122000	0.31295	0.136000	0.18733	0.655000	0.94253	CAG	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044599.2		+	ENST00000280481.7	Missense_Mutation	SNP	13 : 39263542 - 39263542 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	578	87
RGS3	5998	broad.mit.edu	37	9	116353676	116353676	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116353676C>T	ENST00000374140.2	+	22	3288	c.3079C>T	c.(3079-3081)Cta>Tta	p.L1027L	RGS3_ENST00000394646.3_Splice_Site_p.L420L|RGS3_ENST00000374134.3_Splice_Site_p.L348L|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000462143.1_Splice_Site_p.L348L|RGS3_ENST00000350696.5_Splice_Site_p.L1027L|RGS3_ENST00000343817.5_Splice_Site_p.L746L	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1027					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GAGCAAAAACCTGTACGTTGG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	86	89			NA	NA	9		NA											NA				116353676		2203	4300	6503	SO:0001630	splice_region_variant			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835	5998	5998		Regulators of G-protein signaling	9999	protein-coding gene	gene with protein product		602189	regulator of G-protein signalling 3		NA	8602223, 11034339	Standard	NM_017790	NM_001276260	NA	Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3080+1C>T	9.37:g.116353676C>T		NA	A6NHA0|A8K0V1|Q5VXB8|Q5VXC1|Q5VZ05|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8TD59|Q8TD68|Q8WXA0	37	CCDS43869.1																																																																																			RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055561.3	Silent	+	ENST00000374140.2	Splice_Site	SNP	9 : 116353676 - 116353676 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	261	49
SYT7	9066	broad.mit.edu	37	11	61323619	61323619	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61323619G>T	ENST00000542836.1	-	2	109	c.92C>A	c.(91-93)aCt>aAt	p.T31N	SYT7_ENST00000263846.4_Missense_Mutation_p.T31N|SYT7_ENST00000535826.1_Missense_Mutation_p.T31N|SYT7_ENST00000539008.1_Missense_Mutation_p.T31N|SYT7_ENST00000540677.1_Missense_Mutation_p.T31N|SYT7_ENST00000542670.1_Missense_Mutation_p.T31N			O43581	SYT7_HUMAN	synaptotagmin VII	31						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GAGGACGACAGTGACGCTAAG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	57	61			NA	NA	11		NA											NA				61323619		2202	4299	6501	SO:0001583	missense			AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347	9066	9066		Synaptotagmins	11514	protein-coding gene	gene with protein product		604146	prostate cancer associated protein 7	PCANAP7	NA	9615227	Standard	NM_004200	NM_001252065	NA	Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000542836.1:c.92C>A	11.37:g.61323619G>T	ENSP00000444568:p.Thr31Asn	NA	Q08AH6	37		.	.	.	.	.	.	.	.	.	.	G	24.1	4.494952	0.85069	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826;ENST00000545053	T;T;T;T;T;T;T	0.59083	0.41;0.29;0.52;0.38;0.36;0.37;1.84	4.98	4.98	0.66077	.	0.441308	0.22038	N	0.065486	T	0.46502	0.1396	N	0.14661	0.345	0.29298	N	0.868872	D;P	0.54207	0.965;0.666	P;B	0.44811	0.461;0.13	T	0.46978	-0.9152	10	0.37606	T	0.19	.	18.2399	0.89963	0.0:0.0:1.0:0.0	.	31;31	F5GZU9;O43581	.;SYT7_HUMAN	N	31	ENSP00000263846:T31N;ENSP00000444201:T31N;ENSP00000439694:T31N;ENSP00000444568:T31N;ENSP00000444019:T31N;ENSP00000437720:T31N;ENSP00000443576:T31N	ENSP00000263846:T31N	T	-	2	0	SYT7	61080195	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.544000	0.67231	2.460000	0.83146	0.591000	0.81541	ACT	SYT7-008	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000398738.1		-	ENST00000542836.1	Missense_Mutation	SNP	11 : 61323619 - 61323619 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	203	31
LZTS1	11178	broad.mit.edu	37	8	20110415	20110415	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:20110415G>A	ENST00000381569.1	-	3	1384	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	LZTS1_ENST00000265801.6_Missense_Mutation_p.R343W|LZTS1_ENST00000522290.1_Missense_Mutation_p.R343W			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	343					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CGGAGCTGCCGCTTCTCCTGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	20	19			NA	NA	8		NA											NA				20110415		2198	4297	6495	SO:0001583	missense			AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337	11178	11178			13861	protein-coding gene	gene with protein product		606551	F37/Esophageal cancer-related gene-coding leucine-zipper motif		NA	10097140, 17349584	Standard	NM_021020	NM_021020	NA	Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1027C>T	8.37:g.20110415G>A	ENSP00000370981:p.Arg343Trp	NA	D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	37	CCDS6015.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101228	0.56183	.	.	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	T;T;T	0.25912	2.09;2.09;1.77	5.45	3.44	0.39384	.	0.253086	0.40640	N	0.001051	T	0.34716	0.0907	L	0.52573	1.65	0.30304	N	0.789216	D;D	0.69078	0.997;0.991	P;B	0.52856	0.711;0.332	T	0.37220	-0.9715	10	0.87932	D	0	-60.708	13.3416	0.60549	0.0:0.0:0.7027:0.2973	.	343;343	Q9Y250-4;Q9Y250	.;LZTS1_HUMAN	W	343	ENSP00000370981:R343W;ENSP00000265801:R343W;ENSP00000429263:R343W	ENSP00000265801:R343W	R	-	1	2	LZTS1	20154695	0.971000	0.33674	1.000000	0.80357	0.883000	0.51084	0.166000	0.16583	1.282000	0.44496	0.561000	0.74099	CGG	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214122.1		-	ENST00000381569.1	Missense_Mutation	SNP	8 : 20110415 - 20110415 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	240	38
SLC4A5	57835	broad.mit.edu	37	2	74482960	74482960	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74482960C>T	ENST00000394019.2	-	13	1364	c.967G>A	c.(967-969)Gtg>Atg	p.V323M	SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000377634.4_Missense_Mutation_p.V323M|SLC4A5_ENST00000377632.1_Missense_Mutation_p.V323M|SLC4A5_ENST00000346834.4_Missense_Mutation_p.V323M|SLC4A5_ENST00000357822.5_Missense_Mutation_p.V323M|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000359484.4_Missense_Mutation_p.V259M|SLC4A5_ENST00000358683.4_Missense_Mutation_p.V259M|SLC4A5_ENST00000423644.1_Missense_Mutation_p.V323M	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	323						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ATGAGGCGCACGAACGCGATG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	108	119			NA	NA	2		NA											NA				74482960		2203	4300	6503	SO:0001583	missense			AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687	57835	57835		Solute carriers	18168	protein-coding gene	gene with protein product		606757	solute carrier family 4, sodium bicarbonate cotransporter, member 5		NA	10978526, 11087115	Standard		NM_133478	NA	Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000394019.2:c.967G>A	2.37:g.74482960C>T	ENSP00000377587:p.Val323Met	NA	Q32MA7|Q59EQ9|Q8WXD3|Q8WXD7|Q96DS7|Q96DS8|Q9HBU5	37	CCDS1937.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453625	0.84209	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249	T;T;T;T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	5.06	4.19	0.49359	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.118223	0.56097	D	0.000025	D	0.89715	0.6795	M	0.93375	3.41	0.41103	D	0.985681	D;D;P;D;D	0.89917	0.999;0.993;0.925;0.987;1.0	D;D;P;D;D	0.72075	0.958;0.921;0.784;0.935;0.976	D	0.91362	0.5112	10	0.66056	D	0.02	.	11.2704	0.49136	0.0:0.9113:0.0:0.0887	.	323;323;259;323;323	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	M	323;323;323;259;323;259;323;323;323;323	ENSP00000377587:V323M;ENSP00000251768:V323M;ENSP00000352461:V259M;ENSP00000395804:V323M;ENSP00000351513:V259M;ENSP00000350475:V323M;ENSP00000366859:V323M;ENSP00000366861:V323M;ENSP00000405678:V323M	ENSP00000251768:V323M	V	-	1	0	SLC4A5	74336468	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	5.896000	0.69822	1.363000	0.46019	0.655000	0.94253	GTG	SLC4A5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206584.2		-	ENST00000394019.2	Missense_Mutation	SNP	2 : 74482960 - 74482960 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	327	80
PGM5	5239	broad.mit.edu	37	9	71098868	71098868	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71098868C>T	ENST00000396396.1	+	9	1612	c.1383C>T	c.(1381-1383)ggC>ggT	p.G461G		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	461					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CCTTCATTGGCCAGCAGTTTG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	116	123			NA	NA	9		NA											NA				71098868		2203	4300	6503	SO:0001819	synonymous_variant			L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330	5239	5239			8908	protein-coding gene	gene with protein product	phosphoglucomutase-related protein	600981			NA	8586438, 8631316	Standard	NM_021965	NM_021965	NA	Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1383C>T	9.37:g.71098868C>T		NA	B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	37	CCDS6622.2																																																																																			PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052548.2		+	ENST00000396396.1	Silent	SNP	9 : 71098868 - 71098868 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	467	75
GRB7	2886	broad.mit.edu	37	17	37899218	37899218	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37899218G>A	ENST00000309156.4	+	4	631	c.374G>A	c.(373-375)cGc>cAc	p.R125H	GRB7_ENST00000394209.2_Missense_Mutation_p.R125H|GRB7_ENST00000309185.3_Missense_Mutation_p.R125H|GRB7_ENST00000445327.2_Missense_Mutation_p.R148H|GRB7_ENST00000394204.1_Missense_Mutation_p.R125H|GRB7_ENST00000578702.1_Intron|GRB7_ENST00000394211.3_Missense_Mutation_p.R125H	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	125	Ras-associating.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCCACAGCTCGCCACGTGTGT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	66	67			NA	NA	17		NA											NA				37899218		2203	4300	6503	SO:0001583	missense			D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738	2886	2886		Pleckstrin homology (PH) domain containing, SH2 domain containing	4567	protein-coding gene	gene with protein product		601522			NA		Standard	NM_005310	NM_005310	NA	Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.374G>A	17.37:g.37899218G>A	ENSP00000310771:p.Arg125His	NA	B2RAV1|B3KNL0|B3KWP9|B7WP75|Q53YD3|Q92568|Q96DF9|Q9Y220	37	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813108	0.50527	.	.	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18	4.77	4.77	0.60923	Ras-association (3);	0.168736	0.51477	D	0.000089	T	0.23171	0.0560	L	0.60845	1.875	0.80722	D	1	B;P	0.36535	0.021;0.557	B;B	0.31337	0.004;0.128	T	0.07102	-1.0790	10	0.59425	D	0.04	-20.5719	17.0724	0.86578	0.0:0.0:1.0:0.0	.	125;125	Q14451-2;Q14451	.;GRB7_HUMAN	H	125;125;125;125;148;125	ENSP00000311752:R125H;ENSP00000310771:R125H;ENSP00000377761:R125H;ENSP00000377759:R125H;ENSP00000403459:R148H;ENSP00000377754:R125H	ENSP00000310771:R125H	R	+	2	0	GRB7	35152744	0.998000	0.40836	0.969000	0.41365	0.046000	0.14306	5.327000	0.65881	2.653000	0.90120	0.561000	0.74099	CGC	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257024.2		+	ENST00000309156.4	Missense_Mutation	SNP	17 : 37899218 - 37899218 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	15
SPTBN1	6711	broad.mit.edu	37	2	54753662	54753662	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54753662C>T	ENST00000356805.4	+	2	388	c.107C>T	c.(106-108)tCt>tTt	p.S36F	AC092839.3_ENST00000433475.1_RNA	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	36	Actin-binding.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GAGAACAGCTCTGCGCGGCTT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	122	126			NA	NA	2		NA											NA				54753662		2203	4300	6503	SO:0001583	missense				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306	NA	6711		Pleckstrin homology (PH) domain containing	11275	protein-coding gene	gene with protein product		182790			NA		Standard		NM_003128	NA	Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.107C>T	2.37:g.54753662C>T	ENSP00000349259:p.Ser36Phe	NA	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	37	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	34	5.394759	0.96009	.	.	ENSG00000115306	ENST00000356805;ENST00000389980	T;T	0.27402	1.67;1.67	5.77	5.77	0.91146	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.57272	0.2042	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.57522	-0.7797	10	0.87932	D	0	.	20.0007	0.97408	0.0:1.0:0.0:0.0	.	36	Q01082	SPTB2_HUMAN	F	36	ENSP00000349259:S36F;ENSP00000374630:S36F	ENSP00000349259:S36F	S	+	2	0	SPTBN1	54607166	1.000000	0.71417	0.963000	0.40424	0.964000	0.63967	7.794000	0.85869	2.726000	0.93360	0.650000	0.86243	TCT	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258115.3		+	ENST00000356805.4	Missense_Mutation	SNP	2 : 54753662 - 54753662 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	430	69
B3GNT3	10331	broad.mit.edu	37	19	17919059	17919059	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17919059G>A	ENST00000318683.6	+	2	590	c.443G>A	c.(442-444)gGc>gAc	p.G148D	B3GNT3_ENST00000595387.1_Missense_Mutation_p.G148D	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	148					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						TTCCTGGTGGGCACAGCCTCC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	33	33			NA	NA	19		NA											NA				17919059		2203	4300	6503	SO:0001583	missense			AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913	10331	10331		Beta 3-glycosyltransferases	13528	protein-coding gene	gene with protein product	putative type II membrane protein, beta-1,3-N-acetylglucosaminyltransferase bGnT-3, transmembrane protein 3	605863		TMEM3	NA	10072769, 11042166	Standard	NM_014256	NM_014256	NA	Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.443G>A	19.37:g.17919059G>A	ENSP00000321874:p.Gly148Asp	NA	B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	37	CCDS12364.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253128	0.80135	.	.	ENSG00000179913	ENST00000318683	D	0.83673	-1.75	3.92	3.92	0.45320	.	0.000000	0.85682	U	0.000000	D	0.93598	0.7956	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94776	0.7949	10	0.87932	D	0	.	11.4409	0.50096	0.0:0.0:1.0:0.0	.	148	Q9Y2A9	B3GN3_HUMAN	D	148	ENSP00000321874:G148D	ENSP00000321874:G148D	G	+	2	0	B3GNT3	17780059	1.000000	0.71417	0.967000	0.41034	0.749000	0.42624	9.080000	0.94040	1.733000	0.51620	0.297000	0.19635	GGC	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466877.1		+	ENST00000318683.6	Missense_Mutation	SNP	19 : 17919059 - 17919059 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	316	61
COL25A1	84570	broad.mit.edu	37	4	109769940	109769940	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:109769940C>A	ENST00000399132.1	-	27	1939	c.1409G>T	c.(1408-1410)gGa>gTa	p.G470V	COL25A1_ENST00000399126.1_Missense_Mutation_p.G470V|COL25A1_ENST00000399127.1_Missense_Mutation_p.G443V	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	470	Collagen-like 6.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TCCTGGGATTCCTGGAGATCC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	111	115			NA	NA	4		NA											NA				109769940		1832	4084	5916	SO:0001583	missense			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517	84570	84570		Collagens	18603	protein-coding gene	gene with protein product		610004			NA	11927537	Standard	NM_032518	NM_001256074	NA	Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1409G>T	4.37:g.109769940C>A	ENSP00000382083:p.Gly470Val	NA	A8MPZ6|Q9BXR9	37	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172581	0.38315	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;D;D	0.99186	-5.53;-5.53;-5.53	5.01	5.01	0.66863	.	0.106996	0.64402	D	0.000006	D	0.99569	0.9845	H	0.97365	3.99	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.91635	0.859;0.999	D	0.97804	1.0246	9	.	.	.	-6.4959	16.4954	0.84238	0.0:1.0:0.0:0.0	.	470;470	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	V	470;472;451;443;470;400	ENSP00000382083:G470V;ENSP00000382078:G443V;ENSP00000382077:G470V	.	G	-	2	0	COL25A1	109989389	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	4.635000	0.61332	2.494000	0.84150	0.552000	0.68991	GGA	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000315938.2		-	ENST00000399132.1	Missense_Mutation	SNP	4 : 109769940 - 109769940 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	657	140
CIC	23152	broad.mit.edu	37	19	42795086	42795086	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42795086G>A	ENST00000572681.2	+	11	4961	c.4893G>A	c.(4891-4893)ccG>ccA	p.P1631P	CIC_ENST00000575354.2_Silent_p.P722P|CIC_ENST00000160740.3_Silent_p.P722P			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	722					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGGGCTCCCCGCTGGGTGTCA	0.647		NA	Mis, F, S		oligodendroglioma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		19	19q13.2	23152	capicua homolog		O	0													26	27	26			NA	NA	19		NA											NA				42795086		2199	4293	6492	SO:0001819	synonymous_variant			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432	23152	23152			14214	protein-coding gene	gene with protein product		612082	capicua (Drosophila) homolog, capicua homolog (Drosophila)		NA	12393275, 15981098	Standard		NM_015125	NA	Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000572681.2:c.4893G>A	19.37:g.42795086G>A		NA	Q7LGI1|Q9UEG5|Q9Y6T1	37																																																																																				CIC-002	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000438528.3		+	ENST00000572681.2	Silent	SNP	19 : 42795086 - 42795086 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	254	42
ABCA4	24	broad.mit.edu	37	1	94522198	94522198	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94522198C>T	ENST00000370225.3	-	15	2427	c.2341G>A	c.(2341-2343)Gcc>Acc	p.A781T	ABCA4_ENST00000535735.1_Intron	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	781					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCCTGCCAGGCGAAGCACAGG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	59	63			NA	NA	1		NA											NA				94522198		2203	4300	6503	SO:0001583	missense			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691	24	24		ATP binding cassette transporters / subfamily A	34	protein-coding gene	gene with protein product	Stargardt disease	601691	ATP-binding cassette transporter, retinal-specific	STGD1, ABCR, RP19, STGD	NA	9490294	Standard	NM_000350	NM_000350	NA	Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2341G>A	1.37:g.94522198C>T	ENSP00000359245:p.Ala781Thr	NA	O15112|O60438|O60915|Q4LE31	37	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	36	5.685822	0.96784	.	.	ENSG00000198691	ENST00000370225	T	0.77750	-1.12	5.36	5.36	0.76844	.	0.051999	0.85682	D	0.000000	T	0.70176	0.3194	M	0.64630	1.985	0.80722	D	1	B	0.34329	0.449	B	0.35470	0.203	T	0.70938	-0.4736	10	0.36615	T	0.2	.	19.4483	0.94857	0.0:1.0:0.0:0.0	.	781	P78363	ABCA4_HUMAN	T	781	ENSP00000359245:A781T	ENSP00000359245:A781T	A	-	1	0	ABCA4	94294786	0.995000	0.38212	0.996000	0.52242	0.986000	0.74619	3.270000	0.51600	2.673000	0.90976	0.561000	0.74099	GCC	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029320.1		-	ENST00000370225.3	Missense_Mutation	SNP	1 : 94522198 - 94522198 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	177	26
LAMA5	3911	broad.mit.edu	37	20	60900582	60900582	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60900582C>T	ENST00000252999.3	-	41	5385	c.5319G>A	c.(5317-5319)gaG>gaA	p.E1773E		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1773	Laminin IV type A.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTTGCGCGTCTCCGTATGCC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	49	54			NA	NA	20		NA											NA				60900582		2203	4298	6501	SO:0001819	synonymous_variant			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702	3911	3911		Laminins	6485	protein-coding gene	gene with protein product		601033			NA	9271224	Standard	NM_005560	NM_005560	NA	Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.5319G>A	20.37:g.60900582C>T		NA	Q8TDF8|Q8WZA7|Q9H1P1	37	CCDS33502.1																																																																																			LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080014.2		-	ENST00000252999.3	Silent	SNP	20 : 60900582 - 60900582 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	202	26
RSAD2	91543	broad.mit.edu	37	2	7027154	7027154	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:7027154C>T	ENST00000382040.3	+	3	733	c.597C>T	c.(595-597)aaC>aaT	p.N199N	RSAD2_ENST00000541728.1_Silent_p.N92N	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	199					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		GAAAGAAGAACCATGTGGAAA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	105	107			NA	NA	2		NA											NA				7027154		2203	4300	6503	SO:0001819	synonymous_variant			AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321	91543	91543			30908	protein-coding gene	gene with protein product		607810			NA	11752458	Standard	NM_080657	NM_080657	NA	Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.597C>T	2.37:g.7027154C>T		NA	Q8WVI4	37	CCDS1656.1																																																																																			RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206724.2		+	ENST00000382040.3	Silent	SNP	2 : 7027154 - 7027154 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	376	81
NFKBIZ	64332	broad.mit.edu	37	3	101570965	101570965	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101570965G>A	ENST00000326172.5	+	2	441	c.326G>A	c.(325-327)gGc>gAc	p.G109D	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.G109D|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.G9D	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CAGCAGAGAGGCCCCTTTCAA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	104	103			NA	NA	3		NA											NA				101570965		2203	4300	6503	SO:0001583	missense			AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802	64332	64332		Ankyrin repeat domain containing	29805	protein-coding gene	gene with protein product	IL-1 inducible nuclear ankyrin-repeat protein	608004			NA	12565889, 16513645	Standard	NM_031419	NM_031419	NA	Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.326G>A	3.37:g.101570965G>A	ENSP00000325663:p.Gly109Asp	NA	B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	37	CCDS2946.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066465	0.76187	.	.	ENSG00000144802	ENST00000461724;ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172;ENST00000491281	T;T;D;T	0.83163	-1.34;-1.39;-1.69;-1.39	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000002	D	0.87581	0.6213	L	0.32530	0.975	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.88539	0.3108	10	0.66056	D	0.02	-22.1952	19.0279	0.92941	0.0:0.0:1.0:0.0	.	109;109	Q9BYH8-3;Q9BYH8	.;IKBZ_HUMAN	D	109;9;9;109;109;9	ENSP00000419800:G9D;ENSP00000377618:G9D;ENSP00000325593:G109D;ENSP00000325663:G109D	ENSP00000325593:G109D	G	+	2	0	NFKBIZ	103053655	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	7.314000	0.78988	2.584000	0.87258	0.563000	0.77884	GGC	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353793.1		+	ENST00000326172.5	Missense_Mutation	SNP	3 : 101570965 - 101570965 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	669	138
LRP3	4037	broad.mit.edu	37	19	33696652	33696652	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33696652T>C	ENST00000253193.7	+	5	1178	c.976T>C	c.(976-978)Tcc>Ccc	p.S326P		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	326	CUB 2.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GCAGACGCTGTCCTACCGCAG	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													8	11	10			NA	NA	19		NA											NA				33696652		2139	4201	6340	SO:0001583	missense			AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881	4037	4037		Low density lipoprotein receptors	6695	protein-coding gene	gene with protein product		603159			NA	9693042, 7959795	Standard		NM_002333	NA	Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.976T>C	19.37:g.33696652T>C	ENSP00000253193:p.Ser326Pro	NA	B3KQD6|B4DKF2	37	CCDS12430.1	.	.	.	.	.	.	.	.	.	.	T	18.45	3.627330	0.66901	.	.	ENSG00000130881	ENST00000431491;ENST00000253193	T	0.18960	2.18	5.02	5.02	0.67125	CUB (5);	0.000000	0.85682	D	0.000000	T	0.42040	0.1185	L	0.60455	1.87	0.54753	D	0.999988	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79784	0.985;0.993;0.985	T	0.26677	-1.0096	10	0.54805	T	0.06	-44.833	13.9237	0.63950	0.0:0.0:0.0:1.0	.	200;326;244	C9J8W0;O75074;B7ZAJ9	.;LRP3_HUMAN;.	P	200;326	ENSP00000253193:S326P	ENSP00000253193:S326P	S	+	1	0	LRP3	38388492	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	4.917000	0.63369	1.897000	0.54924	0.260000	0.18958	TCC	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450842.4		+	ENST00000253193.7	Missense_Mutation	SNP	19 : 33696652 - 33696652 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	112	18
STRADA	92335	broad.mit.edu	37	17	61781025	61781025	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61781025G>A	ENST00000582137.1	-	0	1151				STRADA_ENST00000375840.4_Silent_p.D352D|STRADA_ENST00000392950.4_3'UTR|STRADA_ENST00000245865.5_3'UTR|STRADA_ENST00000336174.6_Silent_p.D410D|STRADA_ENST00000447001.3_3'UTR|RP11-51F16.8_ENST00000580553.1_3'UTR			Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	NA					activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						TTCCACTGTGGTCCTGAGACT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	66	67			NA	NA	17		NA											NA				61781025		2203	4300	6503	SO:0001624	3_prime_UTR_variant			AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173	92335	92335			30172	protein-coding gene	gene with protein product	STE20-like pseudokinase	608626			NA	12805220, 17921699	Standard		NM_153335	NA	Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000582137.1:c.*107C>T	17.37:g.61781025G>A		NA	Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	37	CCDS58585.1																																																																																			STRADA-006	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443897.1		-	ENST00000582137.1	3'UTR	SNP	17 : 61781025 - 61781025 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	43
FBXO31	79791	broad.mit.edu	37	16	87364932	87364932	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87364932C>T	ENST00000311635.7	-	9	1594	c.1582G>A	c.(1582-1584)Gat>Aat	p.D528N	RP11-178L8.4_ENST00000568879.1_Intron	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	528					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGCATCTCATCGAAGGCCTGT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	71	80			NA	NA	16		NA											NA				87364932		2198	4300	6498	SO:0001583	missense			BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264	79791	79791		F-boxes /  other	16510	protein-coding gene	gene with protein product		609102	F-box only protein 31		NA		Standard	NM_024735	NM_024735	NA	Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.1582G>A	16.37:g.87364932C>T	ENSP00000310841:p.Asp528Asn	NA	Q5K680|Q8WYV1|Q96D73|Q9UFV4	37	CCDS32501.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236583	0.79800	.	.	ENSG00000103264	ENST00000311635	.	.	.	4.86	4.86	0.63082	.	0.108090	0.64402	D	0.000006	T	0.55513	0.1925	L	0.36672	1.1	0.51767	D	0.999931	P;D	0.54047	0.939;0.964	B;P	0.45971	0.303;0.499	T	0.62695	-0.6800	9	0.72032	D	0.01	-29.6364	18.3459	0.90322	0.0:1.0:0.0:0.0	.	528;420	Q5XUX0;Q5XUX0-2	FBX31_HUMAN;.	N	528	.	ENSP00000310841:D528N	D	-	1	0	FBXO31	85922433	1.000000	0.71417	0.940000	0.37924	0.953000	0.61014	7.269000	0.78482	2.404000	0.81709	0.561000	0.74099	GAT	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000430799.2		-	ENST00000311635.7	Missense_Mutation	SNP	16 : 87364932 - 87364932 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	372	59
LONP2	83752	broad.mit.edu	37	16	48290601	48290601	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48290601A>G	ENST00000285737.4	+	3	642	c.549A>G	c.(547-549)ttA>ttG	p.L183L	LONP2_ENST00000535754.1_Intron	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	183	Lon.				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GGGAAGCTTTACCAGACATCT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	106	107			NA	NA	16		NA											NA				48290601		2200	4300	6500	SO:0001819	synonymous_variant			AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910	83752	83752		ATPases / AAA-type	20598	protein-coding gene	gene with protein product					NA	14561759	Standard	NM_031490	XM_005256191	NA	Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.549A>G	16.37:g.48290601A>G		NA	Q0D2H6|Q8N3B9|Q8NCE9|Q96K43	37	CCDS10734.1																																																																																			LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256839.2		+	ENST00000285737.4	Silent	SNP	16 : 48290601 - 48290601 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	393	17
OR2W3	343171	broad.mit.edu	37	1	248059435	248059435	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248059435G>A	ENST00000360358.3	+	1	547	c.547G>A	c.(547-549)Gcc>Acc	p.A183T	OR2W3_ENST00000537741.1_Missense_Mutation_p.A183T	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A183S(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGAGATGCCCGCCCTGATCCG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)						G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	127	105	112		547	2.2	0	1		112	3,8597	3.0+/-9.4	0,3,4297	yes	missense	OR2W3	NM_001001957.2	58	0,4,6499	AA,AG,GG	NA	0.0349,0.0227,0.0308	benign	183/315	248059435	4,13002	2203	4300	6503	SO:0001583	missense			N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243	343171	343171		GPCR / Class A : Olfactory receptors	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P	NA	14983052	Standard	NM_001001957	NM_001001957	NA	Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.547G>A	1.37:g.248059435G>A	ENSP00000353516:p.Ala183Thr	NA	Q6IF06|Q8NG86	37	CCDS31099.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319015	0.41096	2.27E-4	3.49E-4	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.00130	8.69;8.69	5.28	2.22	0.28083	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000012	T	0.00271	0.0008	M	0.80332	2.49	0.09310	N	1	D	0.54047	0.964	P	0.51385	0.668	T	0.38564	-0.9655	10	0.66056	D	0.02	.	5.4106	0.16346	0.0813:0.3111:0.4944:0.1132	.	183	Q7Z3T1	OR2W3_HUMAN	T	183	ENSP00000445853:A183T;ENSP00000353516:A183T	ENSP00000353516:A183T	A	+	1	0	OR2W3	246126058	0.000000	0.05858	0.026000	0.17262	0.275000	0.26752	-0.601000	0.05687	0.784000	0.33661	0.603000	0.83216	GCC	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096861.1		+	ENST00000360358.3	Missense_Mutation	SNP	1 : 248059435 - 248059435 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	642	105
TBX6	6911	broad.mit.edu	37	16	30100374	30100374	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30100374G>A	ENST00000553607.1	-	3	1204	c.511C>T	c.(511-513)Cgt>Tgt	p.R171C	TBX6_ENST00000279386.2_Missense_Mutation_p.R171C|TBX6_ENST00000395224.2_Missense_Mutation_p.R171C			O95947	TBX6_HUMAN	T-box 6	171					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						ATGTAGACACGGTCAGGCAGG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	62	61			NA	NA	16		NA											NA				30100374		2197	4300	6497	SO:0001583	missense			AJ007989	CCDS10670.1	16p11.2	2008-02-05			ENSG00000149922	ENSG00000149922	6911	6911		T-boxes	11605	protein-coding gene	gene with protein product		602427			NA	9888994, 9933572	Standard	NM_004608, NM_080758	NM_004608	NA	Approved		uc010veh.2	O95947	OTTHUMG00000132115	ENST00000553607.1:c.511C>T	16.37:g.30100374G>A	ENSP00000461223:p.Arg171Cys	NA	Q8TAS4	37		.	.	.	.	.	.	.	.	.	.	G	21.1	4.092673	0.76756	.	.	ENSG00000149922	ENST00000395224;ENST00000279386;ENST00000553607	D;D;D	0.90732	-2.72;-2.72;-2.72	5.8	5.8	0.92144	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.94178	0.8132	M	0.76938	2.355	0.80722	D	1	D;D	0.64830	0.994;0.973	P;B	0.55222	0.771;0.414	D	0.94483	0.7695	10	0.87932	D	0	.	18.8306	0.92137	0.0:0.0:1.0:0.0	.	171;171	O95947;Q9HA44	TBX6_HUMAN;.	C	171	ENSP00000378650:R171C;ENSP00000279386:R171C;ENSP00000461223:R171C	ENSP00000279386:R171C	R	-	1	0	TBX6	30007875	1.000000	0.71417	0.987000	0.45799	0.596000	0.36781	6.172000	0.71932	2.747000	0.94245	0.462000	0.41574	CGT	TBX6-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000410856.4		-	ENST00000553607.1	Missense_Mutation	SNP	16 : 30100374 - 30100374 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	603	119
DERL3	91319	broad.mit.edu	37	22	24179333	24179333	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24179333C>T	ENST00000406855.3	-	6	550	c.532G>A	c.(532-534)Gtg>Atg	p.V178M	DERL3_ENST00000404056.1_Missense_Mutation_p.V151M|DERL3_ENST00000476077.1_Missense_Mutation_p.V178M|DERL3_ENST00000318109.7_Missense_Mutation_p.V178M	NM_001002862.2|NM_001135751.1|NM_198440.3	NP_001002862.1|NP_001129223.1|NP_940842.2	Q96Q80	DERL3_HUMAN	derlin 3	178					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process	integral to endoplasmic reticulum membrane	protein binding			ovary(1)|prostate(1)|skin(1)	3						ATATGGCCCACCGCAATCCCT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	59	61			NA	NA	22		NA											NA				24179333		2203	4300	6503	SO:0001583	missense			AB049213	CCDS33615.1, CCDS42986.1, CCDS46672.1	22q11.23	2012-02-01	2012-02-01	2004-11-02	ENSG00000099958	ENSG00000099958	91319	91319			14236	protein-coding gene	gene with protein product		610305	chromosome 22 open reading frame 14, Der1-like domain family, member 3	C22orf14	NA	15215855	Standard	NM_198440	NM_198440	NA	Approved	FLJ43842, MGC71803, derlin-3, IZP6	uc002zyk.4	Q96Q80	OTTHUMG00000150743	ENST00000406855.3:c.532G>A	22.37:g.24179333C>T	ENSP00000384744:p.Val178Met	NA	Q6ICJ6|Q6PEX0|Q6ZUB5	37	CCDS46672.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737813	0.69304	.	.	ENSG00000099958	ENST00000406855;ENST00000404056;ENST00000318109;ENST00000476077	T;T;T;T	0.33865	2.66;1.39;2.66;2.66	4.63	3.59	0.41128	.	0.070231	0.56097	D	0.000031	T	0.64940	0.2644	M	0.90082	3.085	0.58432	D	0.999992	D;D	0.76494	0.999;0.998	D;D	0.73708	0.972;0.981	T	0.73275	-0.4034	10	0.72032	D	0.01	.	13.4842	0.61355	0.1578:0.8422:0.0:0.0	.	178;178	Q96Q80-2;Q96Q80	.;DERL3_HUMAN	M	178;151;178;178	ENSP00000384744:V178M;ENSP00000384473:V151M;ENSP00000315303:V178M;ENSP00000419399:V178M	ENSP00000315303:V178M	V	-	1	0	DERL3	22509333	1.000000	0.71417	0.711000	0.30485	0.851000	0.48451	5.767000	0.68850	1.074000	0.40909	0.558000	0.71614	GTG	DERL3-001	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319904.1		-	ENST00000406855.3	Missense_Mutation	SNP	22 : 24179333 - 24179333 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	245	13
EI24	9538	broad.mit.edu	37	11	125451139	125451139	+	Nonsense_Mutation	SNP	G	G	T	rs3017282		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125451139G>T	ENST00000530985.1	+	0	1134				STT3A-AS1_ENST00000530526.1_RNA|STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000278903.6_Nonsense_Mutation_p.E236*|EI24_ENST00000343678.4_Intron			O14681	EI24_HUMAN	etoposide induced 2.4	NA					apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		GTCTAACATAGAAAGGAATTG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	93	94			NA	NA	11		NA											NA				125451139		1826	4091	5917	SO:0001624	3_prime_UTR_variant			AF010313	CCDS73410.1	11q24.2	2012-11-19	2012-11-16		ENSG00000149547	ENSG00000149547	9538	9538			13276	protein-coding gene	gene with protein product	ectopic P-granules autophagy protein 4 homolog (C. elegans)	605170	etoposide induced 2.4 mRNA		NA	10594026, 9305847	Standard	NM_004879	NM_001290135	NA	Approved	PIG8, TP53I8, EPG4	uc001qcb.3	O14681	OTTHUMG00000165851	ENST00000530985.1:c.*1131G>T	11.37:g.125451139G>T		NA	A8K7D6|Q9BUQ1	37		.	.	.	.	.	.	.	.	.	.	G	39	7.653943	0.98412	.	.	ENSG00000149547	ENST00000278903	.	.	.	5.41	5.41	0.78517	.	0.091308	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9966	0.92815	0.0:0.0:1.0:0.0	.	.	.	.	X	236	.	ENSP00000278903:E236X	E	+	1	0	EI24	124956349	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.904000	0.92590	2.826000	0.97356	0.655000	0.94253	GAA	EI24-002	KNOWN	basic	processed_transcript	NA	protein_coding	OTTHUMT00000386671.1		+	ENST00000530985.1	3'UTR	SNP	11 : 125451139 - 125451139 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	185	26
ARGLU1	55082	broad.mit.edu	37	13	107211878	107211878	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:107211878G>A	ENST00000400198.3	-	2	719	c.475C>T	c.(475-477)Cga>Tga	p.R159*	ARGLU1_ENST00000375926.1_Silent_p.S8S	NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	159	Glu-rich.									large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TCCACCCTTCGGAGAACTTCT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													173	170	171			NA	NA	13		NA											NA				107211878		1896	4124	6020	SO:0001587	stop_gained			BC071587	CCDS41906.1	13q33.3	2011-10-03	2007-11-28		ENSG00000134884	ENSG00000134884	55082	55082			25482	protein-coding gene	gene with protein product		614046			NA	21454576	Standard	NM_018011	NM_018011	NA	Approved	FLJ10154	uc001vqk.4	Q9NWB6	OTTHUMG00000017321	ENST00000400198.3:c.475C>T	13.37:g.107211878G>A	ENSP00000383059:p.Arg159*	NA	Q5T257|Q6IQ34	37	CCDS41906.1	.	.	.	.	.	.	.	.	.	.	G	39	7.386779	0.98252	.	.	ENSG00000134884	ENST00000400198;ENST00000426600	.	.	.	5.51	4.66	0.58398	.	0.063133	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.2596	16.3132	0.82904	0.0:0.1324:0.8676:0.0	.	.	.	.	X	159;109	.	ENSP00000383059:R159X	R	-	1	2	ARGLU1	106009879	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.357000	0.97099	1.308000	0.44962	0.655000	0.94253	CGA	ARGLU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045727.1		-	ENST00000400198.3	Nonsense_Mutation	SNP	13 : 107211878 - 107211878 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	895	44
HSP90AA1	3320	broad.mit.edu	37	14	102549964	102549964	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102549964C>T	ENST00000334701.7	-	9	2052	c.1771G>A	c.(1771-1773)Gcc>Acc	p.A591T	HSP90AA1_ENST00000441629.2_Missense_Mutation_p.A290T|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.A469T	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	469					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	TCACCAGAGGCAGATGTGTAG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	108	109			NA	NA	14		NA											NA				102549964		2203	4300	6503	SO:0001583	missense			M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824	3320	3320		Heat shock proteins / HSPC	5253	protein-coding gene	gene with protein product		140571	heat shock 90kD protein 1, alpha, heat shock 90kDa protein 1, alpha	HSPC1, HSPCA	NA	2527334, 16269234	Standard	NM_005348	NM_001017963	NA	Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000334701.7:c.1771G>A	14.37:g.102549964C>T	ENSP00000335153:p.Ala591Thr	NA	A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	37	CCDS32160.1	.	.	.	.	.	.	.	.	.	.	N	14.36	2.511341	0.44660	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000441629	T;T;T	0.09817	2.94;2.94;2.94	4.61	4.61	0.57282	Ribosomal protein S5 domain 2-type fold (1);	0.134283	0.49305	U	0.000156	T	0.12646	0.0307	L	0.41492	1.28	0.80722	D	1	B;P;B	0.40638	0.009;0.725;0.236	B;B;B	0.40009	0.008;0.316;0.173	T	0.05784	-1.0864	10	0.41790	T	0.15	-25.0233	17.4958	0.87717	0.0:1.0:0.0:0.0	.	290;591;469	Q86U12;P07900-2;P07900	.;.;HS90A_HUMAN	T	469;591;290	ENSP00000216281:A469T;ENSP00000335153:A591T;ENSP00000396189:A290T	ENSP00000216281:A469T	A	-	1	0	HSP90AA1	101619717	1.000000	0.71417	0.886000	0.34754	0.123000	0.20343	3.722000	0.54948	2.299000	0.77371	0.650000	0.86243	GCC	HSP90AA1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414953.1		-	ENST00000334701.7	Missense_Mutation	SNP	14 : 102549964 - 102549964 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	589	77
LHX1	3975	broad.mit.edu	37	17	35298099	35298099	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35298099C>T	ENST00000254457.5	+	3	2001	c.590C>T	c.(589-591)gCc>gTc	p.A197V	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	197					cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				ACGCTGAAGGCCGCCTTCGCT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	31	30			NA	NA	17		NA											NA				35298099		2195	4298	6493	SO:0001583	missense			U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706	3975	3975		Homeoboxes / LIM class	6593	protein-coding gene	gene with protein product		601999			NA	9212161	Standard	NM_005568	NM_005568	NA	Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.590C>T	17.37:g.35298099C>T	ENSP00000254457:p.Ala197Val	NA	Q3MIW0	37	CCDS11316.1	.	.	.	.	.	.	.	.	.	.	C	36	5.806526	0.96967	.	.	ENSG00000132130	ENST00000254457	D	0.96522	-4.04	4.26	4.26	0.50523	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96870	0.8978	L	0.47190	1.495	0.80722	D	1	P;D	0.59767	0.952;0.986	P;D	0.63033	0.884;0.91	D	0.97090	0.9790	10	0.59425	D	0.04	.	17.9822	0.89145	0.0:1.0:0.0:0.0	.	183;197	B4DPA6;P48742	.;LHX1_HUMAN	V	197	ENSP00000254457:A197V	ENSP00000254457:A197V	A	+	2	0	LHX1	32372212	1.000000	0.71417	0.792000	0.32020	0.997000	0.91878	5.871000	0.69628	2.648000	0.89879	0.561000	0.74099	GCC	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256704.3		+	ENST00000254457.5	Missense_Mutation	SNP	17 : 35298099 - 35298099 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	148	36
ATP6V1C2	245973	broad.mit.edu	37	2	10912016	10912016	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10912016C>T	ENST00000381661.3	+	7	631	c.522C>T	c.(520-522)ttC>ttT	p.F174F	ATP6V1C2_ENST00000272238.4_Silent_p.F174F	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	174					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		p.F174L(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		AAGAGGACTTCGTGCTGGATT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(188;1042 2136 10807 16813 47705)							NA				2	Substitution - Missense(2)	lung(2)											192	177	182			NA	NA	2		NA											NA				10912016		2203	4300	6503	SO:0001819	synonymous_variant			AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882	245973	245973		ATPases / V-type	18264	protein-coding gene	gene with protein product			ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2, ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2		NA	12384298	Standard	NM_144583	XR_426949	NA	Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000381661.3:c.522C>T	2.37:g.10912016C>T		NA	Q96EL8	37	CCDS1674.1																																																																																			ATP6V1C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206906.1		+	ENST00000381661.3	Silent	SNP	2 : 10912016 - 10912016 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1083	271
KEAP1	9817	broad.mit.edu	37	19	10599948	10599948	+	Missense_Mutation	SNP	G	G	A	rs111830952		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10599948G>A	ENST00000171111.5	-	5	2175	c.1628C>T	c.(1627-1629)aCg>aTg	p.T543M	KEAP1_ENST00000393623.2_Missense_Mutation_p.T543M	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GAAAGTCCACGTCTCTGTTTC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	62	69			NA	NA	19		NA											NA				10599948		2203	4300	6503	SO:0001583	missense			AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999	9817	9817		Kelch-like, BTB/POZ domain containing	23177	protein-coding gene	gene with protein product	kelch-like family member 19	606016			NA		Standard	NM_012289	NM_012289	NA	Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1628C>T	19.37:g.10599948G>A	ENSP00000171111:p.Thr543Met	NA	B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	37	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	G	8.476	0.858697	0.17178	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.80393	-1.37;-1.37	5.73	2.31	0.28768	Kelch-type beta propeller (1);	0.704760	0.14924	N	0.290506	T	0.76198	0.3954	M	0.80746	2.51	0.09310	N	1	P	0.47034	0.889	B	0.40825	0.341	T	0.69316	-0.5177	10	0.48119	T	0.1	.	2.3283	0.04228	0.1659:0.1499:0.5294:0.1548	.	543	Q14145	KEAP1_HUMAN	M	543	ENSP00000171111:T543M;ENSP00000377245:T543M	ENSP00000171111:T543M	T	-	2	0	KEAP1	10460948	0.001000	0.12720	0.004000	0.12327	0.055000	0.15305	0.984000	0.29565	0.805000	0.34159	-0.225000	0.12378	ACG	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452000.1		-	ENST00000171111.5	Missense_Mutation	SNP	19 : 10599948 - 10599948 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	214	31
PARP11	57097	broad.mit.edu	37	12	3939112	3939112	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3939112C>T	ENST00000228820.4	-	2	235	c.91G>A	c.(91-93)Gat>Aat	p.D31N	PARP11_ENST00000427057.2_5'UTR|PARP11_ENST00000397096.2_Missense_Mutation_p.D24N|PARP11_ENST00000447133.3_5'UTR	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	24	WWE.						NAD+ ADP-ribosyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			CACTGGGTATCTGACGTGTCC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													180	161	168			NA	NA	12		NA											NA				3939112		2203	4300	6503	SO:0001583	missense			AF263540	CCDS8523.2, CCDS66281.1	12p13.3	2014-01-28	2004-08-25	2004-08-26	ENSG00000111224	ENSG00000111224	57097	57097		Poly (ADP-ribose) polymerases	1186	protein-coding gene	gene with protein product			chromosome 12 open reading frame 6	C12orf6	NA	15273990	Standard		NM_001286522	NA	Approved		uc001qml.2	Q9NR21	OTTHUMG00000156442	ENST00000228820.4:c.91G>A	12.37:g.3939112C>T	ENSP00000228820:p.Asp31Asn	NA	B4DRQ0|Q68DS1|Q8N5Y9	37	CCDS8523.2	.	.	.	.	.	.	.	.	.	.	C	33	5.223274	0.95139	.	.	ENSG00000111224	ENST00000397096;ENST00000228820	T;T	0.29142	1.58;1.58	5.52	5.52	0.82312	WWE domain (1);	0.147781	0.64402	D	0.000013	T	0.46444	0.1393	L	0.47716	1.5	0.80722	D	1	D;D	0.69078	0.996;0.997	P;D	0.64321	0.876;0.924	T	0.07214	-1.0784	10	0.30078	T	0.28	.	16.978	0.86319	0.0:1.0:0.0:0.0	.	31;24	Q9NR21-4;Q9NR21	.;PAR11_HUMAN	N	24;31	ENSP00000380284:D24N;ENSP00000228820:D31N	ENSP00000228820:D31N	D	-	1	0	PARP11	3809373	1.000000	0.71417	0.138000	0.22173	0.901000	0.52897	6.884000	0.75600	2.873000	0.98535	0.563000	0.77884	GAT	PARP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344213.1		-	ENST00000228820.4	Missense_Mutation	SNP	12 : 3939112 - 3939112 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	367	15
PRSS54	221191	broad.mit.edu	37	16	58319950	58319950	+	Missense_Mutation	SNP	G	G	A	rs149972398		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58319950G>A	ENST00000219301.4	-	5	807	c.413C>T	c.(412-414)gCg>gTg	p.A138V	PRSS54_ENST00000567164.1_Missense_Mutation_p.A138V|PRSS54_ENST00000543437.1_Missense_Mutation_p.A39V	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	138	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAAATGCATCGCTGTGTCTGT	0.493		NA											G	1	5e-04	NA	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0								G	VAL/ALA	0,4396		0,0,2198	279	241	254		413	3.5	0	16	dbSNP_134	254	1,8599	1.2+/-3.3	0,1,4299	no	missense	PRSS54	NM_001080492.1	64	0,1,6497	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	138/396	58319950	1,12995	2198	4300	6498	SO:0001583	missense			AK058068	CCDS32463.1	16q21	2010-05-07			ENSG00000103023	ENSG00000103023	221191	221191		Serine peptidases / Serine peptidases	26336	protein-coding gene	gene with protein product	cancer/testis antigen 67				NA	17521433	Standard	NM_001080492	NM_001080492	NA	Approved	FLJ25339, KLKBL4, CT67	uc002enf.3	Q6PEW0		ENST00000219301.4:c.413C>T	16.37:g.58319950G>A	ENSP00000219301:p.Ala138Val	NA	Q96LN9|Q9NT77	37	CCDS32463.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	13.36	2.213193	0.39102	0.0	1.16E-4	ENSG00000103023	ENST00000219301;ENST00000543437	T;T	0.59906	0.23;0.23	5.5	3.47	0.39725	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.437819	0.21555	N	0.072678	T	0.70894	0.3276	M	0.73962	2.25	0.09310	N	1	D	0.89917	1.0	P	0.62885	0.908	T	0.62656	-0.6808	10	0.54805	T	0.06	-5.0004	11.0333	0.47787	0.0:0.0:0.634:0.366	.	138	Q6PEW0	PRS54_HUMAN	V	138;39	ENSP00000219301:A138V;ENSP00000437705:A39V	ENSP00000219301:A138V	A	-	2	0	PRSS54	56877451	0.018000	0.18449	0.001000	0.08648	0.542000	0.35054	1.985000	0.40668	0.614000	0.30107	-0.284000	0.09977	GCG	PRSS54-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000422556.1		-	ENST00000219301.4	Missense_Mutation	SNP	16 : 58319950 - 58319950 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	796	64
PABPC3	5042	broad.mit.edu	37	13	25671625	25671625	+	Missense_Mutation	SNP	G	G	A	rs150466188	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25671625G>A	ENST00000281589.3	+	1	1326	c.1289G>A	c.(1288-1290)cGc>cAc	p.R430H		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	430					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CCAAGTCCTCGCTGGACTGCT	0.512		NA											G	7	0.0032	0.01	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0032	1	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0								G	HIS/ARG	11,4395	19.1+/-41.9	0,11,2192	160	156	157		1289	0.7	0.7	13	dbSNP_134	157	1,8599	1.2+/-3.3	0,1,4299	no	missense	PABPC3	NM_030979.2	29	0,12,6491	AA,AG,GG	NA	0.0116,0.2497,0.0923	benign	430/632	25671625	12,12994	2203	4300	6503	SO:0001583	missense			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846	5042	5042		RNA binding motif (RRM) containing	8556	protein-coding gene	gene with protein product	testis PABP	604680	poly(A)-binding protein, cytoplasmic 3	PABPL3	NA	8432538, 10543404	Standard	NM_030979	NM_030979	NA	Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1289G>A	13.37:g.25671625G>A	ENSP00000281589:p.Arg430His	NA	Q8NHV0|Q9H086	37	CCDS9311.1	7	0.003205128205128205	6	0.012195121951219513	1	0.0027624309392265192	0	0.0	0	0.0	G	10.73	1.431968	0.25813	0.002497	1.16E-4	ENSG00000151846	ENST00000281589	T	0.30182	1.54	0.664	0.664	0.17890	.	0.428123	0.18857	U	0.129224	T	0.20373	0.0490	M	0.71206	2.165	0.36017	D	0.838447	B	0.26195	0.144	B	0.21708	0.036	T	0.14952	-1.0454	10	0.34782	T	0.22	.	7.0697	0.25171	1.0E-4:0.0:0.9999:0.0	.	430	Q9H361	PABP3_HUMAN	H	430	ENSP00000281589:R430H	ENSP00000281589:R430H	R	+	2	0	PABPC3	24569625	1.000000	0.71417	0.701000	0.30321	0.012000	0.07955	3.832000	0.55783	0.593000	0.29745	0.313000	0.20887	CGC	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044220.2		+	ENST00000281589.3	Missense_Mutation	SNP	13 : 25671625 - 25671625 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	940	141
ZEB2	9839	broad.mit.edu	37	2	145161567	145161567	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:145161567A>G	ENST00000558170.2	-	6	1907	c.723T>C	c.(721-723)ttT>ttC	p.F241F	ZEB2_ENST00000303660.4_Silent_p.F241F|ZEB2_ENST00000409487.3_Silent_p.F241F|ZEB2_ENST00000539609.3_Silent_p.F217F	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	241						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GAGGGCAGGAAAAGTTCTCTT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(33;1235 1264 5755 16332)							NA				0													250	239	243			NA	NA	2		NA											NA				145161567		2203	4300	6503	SO:0001819	synonymous_variant			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554	9839	9839		Zinc fingers, C2H2-type, Homeoboxes / ZF class	14881	protein-coding gene	gene with protein product	SMAD interacting protein 1	605802	zinc finger homeobox 1b	ZFHX1B	NA		Standard	NM_014795	NM_014795	NA	Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.723T>C	2.37:g.145161567A>G		NA	A0JP09|Q9UED1	37	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	A	6.344	0.431506	0.12045	.	.	ENSG00000169554	ENST00000419938	T	0.32988	1.43	5.65	2.05	0.26809	.	0.000000	0.85682	D	0.000000	T	0.41119	0.1145	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.19647	-1.0299	7	0.72032	D	0.01	-9.4435	8.6271	0.33897	0.6345:0.0:0.3655:0.0	.	.	.	.	S	130	ENSP00000394777:F130S	ENSP00000394777:F130S	F	-	2	0	ZEB2	144878037	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.639000	0.37176	0.118000	0.18165	0.533000	0.62120	TTT	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254778.5		-	ENST00000558170.2	Silent	SNP	2 : 145161567 - 145161567 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	731	80
TEX13B	56156	broad.mit.edu	37	X	107225187	107225187	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107225187G>A	ENST00000302917.1	-	2	263	c.171C>T	c.(169-171)agC>agT	p.S57S		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	57								p.S57S(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						TGGGCACCTCGCTGTCCTCCA	0.602		NA												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)											99	91	94			NA	NA	X		NA											NA				107225187		2199	4300	6499	SO:0001819	synonymous_variant			AF285598	CCDS14534.1	Xq23	2008-02-05	2007-03-13		ENSG00000170925	ENSG00000170925	NA	56156			11736	protein-coding gene	gene with protein product		300313	testis expressed sequence 13B		NA	11279525	Standard		NM_031273	NA	Approved	TSGA5, TGC3B	uc004enn.1	Q9BXU2	OTTHUMG00000022174	ENST00000302917.1:c.171C>T	X.37:g.107225187G>A		NA	Q5JYF6	37	CCDS14534.1																																																																																			TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057857.1		-	ENST00000302917.1	Silent	SNP	X : 107225187 - 107225187 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	712	26
SIGLEC6	946	broad.mit.edu	37	19	52033991	52033991	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52033991A>C	ENST00000346477.3	-	3	718	c.650T>G	c.(649-651)gTg>gGg	p.V217G	SIGLEC6_ENST00000391797.3_Missense_Mutation_p.V206G|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.V217G|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.V217G|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.V181G|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.V217G	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	217	Ig-like C2-type 1.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGGGAACGTCACCTGACAGGT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	69	66			NA	NA	19		NA											NA				52033991		2202	4300	6502	SO:0001583	missense			D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492	946	946		Sialic acid binding Ig-like lectins, CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1	NA	9465907	Standard	NM_001245	NM_001245	NA	Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000346477.3:c.650T>G	19.37:g.52033991A>C	ENSP00000344064:p.Val217Gly	NA	A8MV71|B2RTS8|O15388|O43700	37	CCDS12835.3	.	.	.	.	.	.	.	.	.	.	A	11.68	1.711806	0.30322	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000436458;ENST00000343300	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	3.6	2.57	0.30868	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.33691	N	0.004643	T	0.59918	0.2229	H	0.94462	3.54	0.46609	D	0.999123	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.999;1.0;0.999	D;D;D;D;D;D	0.87578	0.995;0.998;0.991;0.991;0.995;0.995	T	0.60414	-0.7268	10	0.87932	D	0	.	5.5093	0.16872	0.8679:0.0:0.1321:0.0	.	217;181;206;217;217;217	F8WA78;C9JBE5;O43699-4;O43699-2;O43699-3;O43699	.;.;.;.;.;SIGL6_HUMAN	G	206;217;217;217;181;217	ENSP00000401502:V217G;ENSP00000353071:V217G;ENSP00000410679:V181G;ENSP00000345907:V217G	ENSP00000345907:V217G	V	-	2	0	SIGLEC6	56725803	0.012000	0.17670	0.508000	0.27688	0.115000	0.19883	0.974000	0.29436	0.569000	0.29329	0.460000	0.39030	GTG	SIGLEC6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257671.2		-	ENST00000346477.3	Missense_Mutation	SNP	19 : 52033991 - 52033991 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	545	106
GLI1	2735	broad.mit.edu	37	12	57860099	57860099	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57860099G>T	ENST00000228682.2	+	8	930	c.839G>T	c.(838-840)aGg>aTg	p.R280M	GLI1_ENST00000543426.1_Missense_Mutation_p.R152M|GLI1_ENST00000546141.1_Missense_Mutation_p.R239M	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	280					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			AGGGAGCTGAGGCCCTTCAAA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(157;841 1936 10503 41495 50368)							NA				0													106	100	102			NA	NA	12		NA											NA				57860099		2203	4300	6503	SO:0001583	missense				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087	2735	2735		Zinc fingers, C2H2-type	4317	protein-coding gene	gene with protein product		165220	glioma-associated oncogene homolog 1 (zinc finger protein), glioma-associated oncogene family zinc finger 1	GLI	NA	2850480	Standard	NM_005269	NM_005269	NA	Approved		uc001snx.3	P08151		ENST00000228682.2:c.839G>T	12.37:g.57860099G>T	ENSP00000228682:p.Arg280Met	NA	Q8TDN9	37	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116063	0.77323	.	.	ENSG00000111087	ENST00000532291;ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;D;D;D;D	0.94092	0.54;-3.35;-3.35;-3.35;-3.35	4.12	4.12	0.48240	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000117	D	0.95079	0.8406	L	0.49455	1.56	0.54753	D	0.999982	D	0.54397	0.966	D	0.66847	0.947	D	0.95639	0.8696	10	0.87932	D	0	.	15.6904	0.77446	0.0:0.0:1.0:0.0	.	280	P08151	GLI1_HUMAN	M	152;152;280;239;239;152	ENSP00000436671:R152M;ENSP00000437607:R152M;ENSP00000228682:R280M;ENSP00000441006:R239M;ENSP00000434408:R239M	ENSP00000228682:R280M	R	+	2	0	GLI1	56146366	0.997000	0.39634	1.000000	0.80357	0.866000	0.49608	2.340000	0.43974	2.295000	0.77249	0.655000	0.94253	AGG	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394197.1		+	ENST00000228682.2	Missense_Mutation	SNP	12 : 57860099 - 57860099 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	800	160
GAS7	8522	broad.mit.edu	37	17	9837492	9837492	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9837492G>T	ENST00000323816.4	-	10	858	c.696C>A	c.(694-696)ttC>ttA	p.F232L	GAS7_ENST00000432992.2_Missense_Mutation_p.F292L|GAS7_ENST00000437099.2_Missense_Mutation_p.F228L|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000396115.2_Intron|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000579158.1_Missense_Mutation_p.F228L|GAS7_ENST00000580865.1_Missense_Mutation_p.F152L|GAS7_ENST00000542249.1_Missense_Mutation_p.F228L|GAS7_ENST00000585266.1_Missense_Mutation_p.F232L			O60861	GAS7_HUMAN	growth arrest-specific 7	296	FCH.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						CCTTGGCAGAGAACTTGAGGT	0.532		NA	T	MLL	AML*									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		17	17p	8522	growth arrest-specific 7		L	0													123	91	102			NA	NA	17		NA											NA				9837492		2203	4300	6503	SO:0001583	missense			AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18					8522	8522			4169	protein-coding gene	gene with protein product		603127			NA	9736752	Standard	NM_003644, NM_201432, NM_201433	NM_001130831	NA	Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000323816.4:c.696C>A	17.37:g.9837492G>T	ENSP00000322608:p.Phe232Leu	NA	B2RCK9|O43144|Q53Y77|Q7Z571	37		.	.	.	.	.	.	.	.	.	.	G	19.99	3.929126	0.73327	.	.	ENSG00000007237	ENST00000323816;ENST00000396115;ENST00000437099;ENST00000432992;ENST00000537970;ENST00000541114	T	0.15256	2.44	4.79	3.75	0.43078	Fps/Fes/Fer/CIP4 homology (2);	0.000000	0.85682	D	0.000000	T	0.19248	0.0462	N	0.25647	0.755	0.58432	D	0.999997	P;P;B;P	0.52061	0.592;0.95;0.28;0.95	P;P;B;P	0.59424	0.688;0.857;0.144;0.835	T	0.01059	-1.1465	9	.	.	.	-14.102	5.7423	0.18100	0.1848:0.0:0.8152:0.0	.	244;232;152;292	B7Z2L1;A8KAC2;O60861-2;O60861	.;.;.;GAS7_HUMAN	L	292;232;231;152;232;106	ENSP00000379421:F232L	.	F	-	3	2	GAS7	9778217	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.687000	0.46976	2.506000	0.84524	0.655000	0.94253	TTC	GAS7-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000439868.3		-	ENST00000323816.4	Missense_Mutation	SNP	17 : 9837492 - 9837492 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	218	25
AMACR	23600	broad.mit.edu	37	5	33989288	33989288	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33989288T>C	ENST00000502637.1	-	5	1098	c.1014A>G	c.(1012-1014)atA>atG	p.I338M	AMACR_ENST00000335606.6_Missense_Mutation_p.I353M|AMACR_ENST00000382072.2_3'UTR|RP11-1084J3.4_ENST00000382079.3_3'UTR|AMACR_ENST00000382085.3_Missense_Mutation_p.I353M|AMACR_ENST00000514195.1_5'UTR			Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	353					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						ATTCTTCAAGTATCTCCTCAG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	95	94			NA	NA	5		NA											NA				33989288		2203	4300	6503	SO:0001583	missense			AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	23600	23600	5.1.99.4		451	protein-coding gene	gene with protein product		604489			NA	9307041	Standard	NM_014324	NM_014324	NA	Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000502637.1:c.1014A>G	5.37:g.33989288T>C	ENSP00000424351:p.Ile338Met	NA	A5YM47|B8Y916|B8Y918|O43673|Q96GH1|Q9Y3Q1	37		.	.	.	.	.	.	.	.	.	.	T	18.57	3.653167	0.67472	.	.	ENSG00000242110	ENST00000335606;ENST00000382085;ENST00000502637	T;T;T	0.58652	0.32;0.32;0.32	5.6	-3.41	0.04839	CoA-transferase family III domain (1);	0.157701	0.64402	D	0.000020	T	0.64193	0.2576	M	0.83603	2.65	0.80722	D	1	D;D;D	0.56746	0.977;0.96;0.96	D;P;P	0.63877	0.919;0.832;0.832	T	0.62642	-0.6811	10	0.59425	D	0.04	-6.6573	0.5428	0.00648	0.3107:0.1306:0.2361:0.3225	.	353;338;353	F8W9N1;D6RB81;Q9UHK6	.;.;AMACR_HUMAN	M	353;353;338	ENSP00000334424:I353M;ENSP00000371517:I353M;ENSP00000424351:I338M	ENSP00000334424:I353M	I	-	3	3	AMACR	34025045	0.408000	0.25360	0.953000	0.39169	0.897000	0.52465	-0.417000	0.07088	-0.358000	0.08162	0.519000	0.50382	ATA	AMACR-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000364406.1		-	ENST00000502637.1	Missense_Mutation	SNP	5 : 33989288 - 33989288 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	397	65
PRKAR1A	5573	broad.mit.edu	37	17	66520194	66520194	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66520194G>A	ENST00000588188.2	+	4	478	c.478G>A	c.(478-480)Gca>Aca	p.A160T	PRKAR1A_ENST00000589228.1_Missense_Mutation_p.A160T|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.A160T|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.A160T|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.A160T|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.A160T	NM_001276290.1	NP_001263219.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	160					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					CTCCTTTATCGCAGGAGAGAC	0.418		NA	T, Mis, N, F, S	RET	papillary thyroid	myxoma, endocrine, papillary thyroid			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(167;637 1670 33025 39608 46699 51856)	yes	Dom, Rec	yes	Carney complex	17	17q23-q24	5573	protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)		E, M	0													142	137	139			NA	NA	17		NA											NA				66520194		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	5573	5573	2.7.11.1		9388	protein-coding gene	gene with protein product	Carney complex type 1	188830	tissue specific extinguisher 1	PRKAR1, TSE1	NA	3479018, 10973256	Standard		NM_212471	NA	Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000588188.2:c.478G>A	17.37:g.66520194G>A	ENSP00000468106:p.Ala160Thr	NA	Q567S7	37		.	.	.	.	.	.	.	.	.	.	G	18.42	3.619415	0.66787	.	.	ENSG00000108946	ENST00000358598;ENST00000392711;ENST00000392710;ENST00000536854	D;D;D	0.93604	-3.25;-3.25;-3.25	6.08	6.08	0.98989	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.093232	0.64402	D	0.000001	D	0.93442	0.7908	M	0.69823	2.125	0.80722	D	1	P;P	0.36647	0.563;0.563	B;B	0.38296	0.27;0.27	D	0.91781	0.5435	10	0.37606	T	0.19	-26.6197	20.2751	0.98485	0.0:0.0:1.0:0.0	.	160;160	B2R5T5;P10644	.;KAP0_HUMAN	T	160	ENSP00000351410:A160T;ENSP00000376475:A160T;ENSP00000445625:A160T	ENSP00000351410:A160T	A	+	1	0	PRKAR1A	64031789	1.000000	0.71417	1.000000	0.80357	0.141000	0.21300	9.869000	0.99810	2.890000	0.99128	0.655000	0.94253	GCA	PRKAR1A-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000449895.2		+	ENST00000588188.2	Missense_Mutation	SNP	17 : 66520194 - 66520194 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	641	91
RASA1	5921	broad.mit.edu	37	5	86672311	86672311	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:86672311T>C	ENST00000456692.2	+	16	1697	c.1582T>C	c.(1582-1584)Tcc>Ccc	p.S528P	CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000506290.1_Missense_Mutation_p.S539P|RASA1_ENST00000512763.1_Missense_Mutation_p.S538P|RASA1_ENST00000274376.6_Missense_Mutation_p.S705P	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	705	PH.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TGAACCAGGGTCCCTGCGTGT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	95	96			NA	NA	5		NA											NA				86672311		2203	4300	6503	SO:0001583	missense				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715	5921	5921		Pleckstrin homology (PH) domain containing, SH2 domain containing	9871	protein-coding gene	gene with protein product	capillary malformation-arteriovenous malformation	139150		RASA	NA	15917201	Standard	NM_002890	NM_022650	NA	Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000456692.2:c.1582T>C	5.37:g.86672311T>C	ENSP00000411221:p.Ser528Pro	NA	B2R6W3|Q9UDI1	37	CCDS47243.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.312935	0.81358	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	5.54	4.31	0.51392	C2 calcium/lipid-binding domain, CaLB (1);Ras GTPase-activating protein (1);	0.048785	0.85682	D	0.000000	T	0.81004	0.4733	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;0.999	D;D;D;D;D	0.74348	0.959;0.983;0.959;0.982;0.959	T	0.81720	-0.0804	10	0.51188	T	0.08	.	11.465	0.50232	0.1347:0.0:0.0:0.8653	.	539;538;539;528;705	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	P	705;738;528;538;539	ENSP00000274376:S705P;ENSP00000411221:S528P;ENSP00000422008:S538P;ENSP00000420905:S539P	ENSP00000274376:S705P	S	+	1	0	RASA1	86708067	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.197000	0.58413	2.102000	0.63906	0.460000	0.39030	TCC	RASA1-002	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369730.1		+	ENST00000456692.2	Missense_Mutation	SNP	5 : 86672311 - 86672311 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	77
PTPN11	5781	broad.mit.edu	37	12	112919958	112919958	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112919958C>T	ENST00000351677.2	+	10	1371	c.1173C>T	c.(1171-1173)agC>agT	p.S391S	PTPN11_ENST00000392597.1_Silent_p.S391S	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	391	Tyrosine-protein phosphatase.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						TCAAAGAAAGCGCCGCTCATG	0.398		NA	Mis		JMML, AML, MDS		Noonan Syndrome		Noonan syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		12	12q24.1	5781	protein tyrosine phosphatase, non-receptor type 11	yes	L	0													93	87	89			NA	NA	12		NA											NA				112919958		2203	4298	6501	SO:0001819	synonymous_variant	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295	5781	5781		Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor, SH2 domain containing	9644	protein-coding gene	gene with protein product		176876	Noonan syndrome 1	NS1	NA	7894486, 1280823	Standard		NM_080601	NA	Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.1173C>T	12.37:g.112919958C>T		NA	A8K1D9|Q96HD7	37	CCDS9163.1																																																																																			PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000259496.2		+	ENST00000351677.2	Silent	SNP	12 : 112919958 - 112919958 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	569	97
FBXO24	26261	broad.mit.edu	37	7	100189512	100189512	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100189512G>A	ENST00000241071.6	+	4	867	c.545G>A	c.(544-546)cGt>cAt	p.R182H	FBXO24_ENST00000468962.1_Missense_Mutation_p.R170H|FBXO24_ENST00000465843.1_Missense_Mutation_p.R168H|FBXO24_ENST00000360609.2_Missense_Mutation_p.R168H|FBXO24_ENST00000427939.2_Missense_Mutation_p.R220H|PCOLCE-AS1_ENST00000442166.2_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	182						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GTGTTGTGTCGTGGAGCCAAG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	68	71			NA	NA	7		NA											NA				100189512		2203	4300	6503	SO:0001583	missense			AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336	26261	26261		F-boxes /  other	13595	protein-coding gene	gene with protein product		609097	F-box only protein 24		NA	10531035, 10531037	Standard		NM_012172	NA	Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.545G>A	7.37:g.100189512G>A	ENSP00000241071:p.Arg182His	NA	A4D2D4|Q9H0G1	37	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450584	0.63290	.	.	ENSG00000106336	ENST00000241071;ENST00000360609;ENST00000465843;ENST00000466053;ENST00000468962;ENST00000427939	T;T;T;T;T	0.50001	2.38;0.76;0.76;2.39;2.37	4.89	4.01	0.46588	.	0.099062	0.44902	D	0.000415	T	0.29556	0.0737	N	0.08118	0	0.33463	D	0.585146	P;D;P;D	0.57257	0.923;0.968;0.923;0.979	B;B;B;P	0.47786	0.247;0.354;0.247;0.557	T	0.35051	-0.9804	9	.	.	.	-10.6204	7.7322	0.28793	0.1875:0.0:0.8125:0.0	.	170;220;182;168	B4DY42;B4DX91;O75426;O75426-2	.;.;FBX24_HUMAN;.	H	182;168;168;187;170;220	ENSP00000241071:R182H;ENSP00000353821:R168H;ENSP00000419602:R168H;ENSP00000420239:R170H;ENSP00000416558:R220H	.	R	+	2	0	FBXO24	100027448	0.998000	0.40836	0.852000	0.33557	0.784000	0.44337	3.124000	0.50461	1.296000	0.44742	0.558000	0.71614	CGT	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356104.1		+	ENST00000241071.6	Missense_Mutation	SNP	7 : 100189512 - 100189512 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	495	84
NKX2-8	26257	broad.mit.edu	37	14	37050665	37050665	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:37050665C>T	ENST00000258829.5	-	2	379	c.162G>A	c.(160-162)tcG>tcA	p.S54S		NM_014360.2	NP_055175.2	O15522	NKX28_HUMAN	NK2 homeobox 8	54					liver development|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0171)		TGCTCTCGTCCGAGGCTAGGG	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													6	7	7			NA	NA	14		NA											NA				37050665		1994	4134	6128	SO:0001819	synonymous_variant				CCDS9660.1	14q13.3	2012-03-09	2007-07-09	2002-10-04	ENSG00000136327	ENSG00000136327	26257	26257		Homeoboxes / ANTP class : NKL subclass	16364	protein-coding gene	gene with protein product		603245	NK-2 homolog H (Drosophila), NK2 transcription factor related, locus 8 (Drosophila)	NKX2H	NA	9446603	Standard		NM_014360	NA	Approved	NKX2.8, Nkx2-9	uc001wtx.3	O15522	OTTHUMG00000028772	ENST00000258829.5:c.162G>A	14.37:g.37050665C>T		NA	Q8IUT7	37	CCDS9660.1																																																																																			NKX2-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071844.6		-	ENST00000258829.5	Silent	SNP	14 : 37050665 - 37050665 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	81	12
ZNF419	79744	broad.mit.edu	37	19	58004751	58004751	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58004751G>A	ENST00000424930.2	+	5	1058	c.829G>A	c.(829-831)Gaa>Aaa	p.E277K	ZNF419_ENST00000426954.2_Missense_Mutation_p.E264K|ZNF419_ENST00000415379.2_Missense_Mutation_p.E230K|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000347466.6_Missense_Mutation_p.E244K|ZNF419_ENST00000354197.4_Missense_Mutation_p.E264K|ZNF419_ENST00000442920.2_Missense_Mutation_p.E263K|ZNF419_ENST00000221735.7_Missense_Mutation_p.E276K	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN	zinc finger protein 419	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		TCACCTCATTGAACACCAGAG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	90	90			NA	NA	19		NA											NA				58004751		2203	4300	6503	SO:0001583	missense			AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136	79744	79744		Zinc fingers, C2H2-type, -	20648	protein-coding gene	gene with protein product			zinc finger protein 419A	ZNF419A	NA		Standard	NM_024691	NM_001098492	NA	Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000424930.2:c.829G>A	19.37:g.58004751G>A	ENSP00000388864:p.Glu277Lys	NA	Q9H5P0	37	CCDS54325.1	.	.	.	.	.	.	.	.	.	.	G	7.686	0.690053	0.15039	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000354197;ENST00000427558;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;3.12;2.37;2.37	2.42	-4.83	0.03161	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04588	0.0125	N	0.05050	-0.12	0.09310	N	1	B;B;B;B;B;B;B	0.27732	0.006;0.082;0.187;0.082;0.006;0.127;0.006	B;B;B;B;B;B;B	0.24006	0.001;0.05;0.046;0.031;0.002;0.029;0.002	T	0.37407	-0.9707	9	0.07482	T	0.82	.	1.9963	0.03457	0.4678:0.1655:0.253:0.1137	.	230;230;263;264;277;244;276	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	K	251;277;264;264;147;263;277;244;230;276	ENSP00000388864:E277K;ENSP00000390916:E264K;ENSP00000346136:E264K;ENSP00000414709:E263K;ENSP00000299860:E244K;ENSP00000392129:E230K;ENSP00000221735:E276K	ENSP00000221735:E276K	E	+	1	0	ZNF419	62696563	0.000000	0.05858	0.000000	0.03702	0.394000	0.30568	-4.423000	0.00236	-1.092000	0.03062	0.195000	0.17529	GAA	ZNF419-004	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378502.2		+	ENST00000424930.2	Missense_Mutation	SNP	19 : 58004751 - 58004751 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	515	77
KIF9	64147	broad.mit.edu	37	3	47299019	47299019	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47299019T>G	ENST00000265529.3	-	11	1693	c.1013A>C	c.(1012-1014)aAg>aCg	p.K338T	KIF9_ENST00000352910.4_Missense_Mutation_p.K245T|KIF9_ENST00000335044.2_Missense_Mutation_p.K338T|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000452770.2_Missense_Mutation_p.K338T|KIF9_ENST00000444589.2_Missense_Mutation_p.K338T			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	338					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GGTGACTAGCTTCATCCTGCT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(44;962 1147 15977 24541)							NA				0													175	144	155			NA	NA	3		NA											NA				47299019		2203	4300	6503	SO:0001583	missense			AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727	64147	64147		Kinesins	16666	protein-coding gene	gene with protein product		607910			NA	11483511	Standard		NM_022342	NA	Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.1013A>C	3.37:g.47299019T>G	ENSP00000265529:p.Lys338Thr	NA	Q86Z28|Q9H8A4	37	CCDS2752.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248045	0.80024	.	.	ENSG00000088727	ENST00000335044;ENST00000265529;ENST00000444589;ENST00000452770;ENST00000352910	T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25	5.47	5.47	0.80525	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	T	0.81264	0.4786	M	0.69248	2.105	0.52501	D	0.999959	P;D	0.55385	0.856;0.971	P;P	0.50270	0.631;0.636	T	0.82218	-0.0566	10	0.46703	T	0.11	.	14.5097	0.67776	0.0:0.0:0.0:1.0	.	338;338	Q9HAQ2-2;Q9HAQ2	.;KIF9_HUMAN	T	338;338;338;338;245	ENSP00000333942:K338T;ENSP00000265529:K338T;ENSP00000414987:K338T;ENSP00000391100:K338T;ENSP00000292334:K245T	ENSP00000265529:K338T	K	-	2	0	KIF9	47274023	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.476000	0.60216	2.296000	0.77279	0.533000	0.62120	AAG	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257475.2		-	ENST00000265529.3	Missense_Mutation	SNP	3 : 47299019 - 47299019 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	489	80
SCN5A	6331	broad.mit.edu	37	3	38603958	38603958	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38603958G>A	ENST00000455624.2	-	21	3932	c.3908C>T	c.(3907-3909)aCg>aTg	p.T1303M	SCN5A_ENST00000450102.2_Missense_Mutation_p.T1250M|SCN5A_ENST00000443581.1_Missense_Mutation_p.T1303M|SCN5A_ENST00000413689.1_Missense_Mutation_p.T1304M|SCN5A_ENST00000425664.1_Missense_Mutation_p.T1304M|SCN5A_ENST00000449557.2_Missense_Mutation_p.T1250M|SCN5A_ENST00000451551.2_Missense_Mutation_p.T1250M|SCN5A_ENST00000423572.2_Missense_Mutation_p.T1303M|SCN5A_ENST00000414099.2_Missense_Mutation_p.T1304M|SCN5A_ENST00000333535.4_Missense_Mutation_p.T1304M			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1304					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGCACGCAGCGTCCGCAGTGA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM992663	SCN5A	M		G	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	1,4175		0,1,2087	41	44	43		3908,3911,3911,3908,3749,3911	4	0.9	3		43	4,8464		0,4,4230	yes	missense,missense,missense,missense,missense,missense	SCN5A	NM_000335.4,NM_001099404.1,NM_001099405.1,NM_001160160.1,NM_001160161.1,NM_198056.2	81,81,81,81,81,81	0,5,6317	AA,AG,GG	NA	0.0472,0.0239,0.0395	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1303/2016,1304/2017,1304/1999,1303/1984,1250/1963,1304/2017	38603958	5,12639	2088	4234	6322	SO:0001583	missense			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873	6331	6331		Sodium channels, Voltage-gated ion channels / Sodium channels	10593	protein-coding gene	gene with protein product	long QT syndrome 3	600163	sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	CMD1E	NA	7842012, 15466643, 16382098	Standard	NM_198056	NM_198056	NA	Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000455624.2:c.3908C>T	3.37:g.38603958G>A	ENSP00000399524:p.Thr1303Met	NA	A5H1P8|A6N922|A6N923|B2RTU0|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	37	CCDS54570.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001180	0.54254	2.39E-4	4.72E-4	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96	4.04	4.04	0.47022	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99217	0.9728	H	0.94503	3.545	0.58432	D	0.999991	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;0.999;1.0;0.988	D	0.98908	1.0779	10	0.87932	D	0	.	16.4146	0.83729	0.0:0.0:1.0:0.0	.	1250;1303;1304;1304;1304;1303;1304	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	M	1304;1303;1304;1250;1303;1304;1304;1303;1250;1250	ENSP00000398962:T1304M;ENSP00000398266:T1303M;ENSP00000410257:T1304M;ENSP00000388797:T1250M;ENSP00000397915:T1303M;ENSP00000416634:T1304M;ENSP00000328968:T1304M;ENSP00000399524:T1303M;ENSP00000403355:T1250M;ENSP00000413996:T1250M	ENSP00000328968:T1304M	T	-	2	0	SCN5A	38578962	1.000000	0.71417	0.890000	0.34922	0.068000	0.16541	9.657000	0.98554	2.105000	0.64084	0.655000	0.94253	ACG	SCN5A-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343215.2		-	ENST00000455624.2	Missense_Mutation	SNP	3 : 38603958 - 38603958 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	134	18
TOP3A	7156	broad.mit.edu	37	17	18181033	18181033	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18181033T>C	ENST00000321105.5	-	18	2997	c.2783A>G	c.(2782-2784)cAg>cGg	p.Q928R	TOP3A_ENST00000542570.1_Missense_Mutation_p.Q833R|TOP3A_ENST00000540524.1_Missense_Mutation_p.Q458R	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	928					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GCCACACTGCTGCTCTCTCGG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	115	120			NA	NA	17		NA											NA				18181033		2203	4300	6503	SO:0001583	missense			U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302	7156	7156			11992	protein-coding gene	gene with protein product	zinc finger, GRF-type containing 7	601243		TOP3	NA	9450867	Standard		NM_004618	NA	Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.2783A>G	17.37:g.18181033T>C	ENSP00000321636:p.Gln928Arg	NA	A8KA61|D3DXC7|Q13473	37	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	T	15.01	2.705739	0.48412	.	.	ENSG00000177302	ENST00000321105;ENST00000540524;ENST00000542570	T;T;T	0.22539	1.95;1.95;1.95	5.65	5.65	0.86999	Zinc finger, GRF-type (1);	0.101533	0.64402	D	0.000001	T	0.28034	0.0691	L	0.52364	1.645	0.80722	D	1	P;P	0.49307	0.922;0.656	P;B	0.46850	0.529;0.424	T	0.01215	-1.1416	10	0.39692	T	0.17	-10.0837	15.8707	0.79117	0.0:0.0:0.0:1.0	.	833;928	B4DK80;Q13472	.;TOP3A_HUMAN	R	928;458;833	ENSP00000321636:Q928R;ENSP00000446425:Q458R;ENSP00000442336:Q833R	ENSP00000321636:Q928R	Q	-	2	0	TOP3A	18121758	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	5.918000	0.69996	2.162000	0.67917	0.448000	0.29417	CAG	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132052.2		-	ENST00000321105.5	Missense_Mutation	SNP	17 : 18181033 - 18181033 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	575	86
SCYL1	57410	broad.mit.edu	37	11	65302805	65302805	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65302805C>T	ENST00000524944.1	+	10	1371	c.1338C>T	c.(1336-1338)tgC>tgT	p.C446C	SCYL1_ENST00000527009.1_Silent_p.C303C|SCYL1_ENST00000279270.6_Silent_p.C446C|SCYL1_ENST00000525364.1_Silent_p.C446C|SCYL1_ENST00000270176.5_Silent_p.C446C|SCYL1_ENST00000533862.1_Silent_p.C446C|SCYL1_ENST00000420247.2_Silent_p.C446C			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	446					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						CCATCCGCTGCAACACCACAG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	124	121			NA	NA	11		NA											NA				65302805		2160	4253	6413	SO:0001819	synonymous_variant			AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186	57410	57410			14372	protein-coding gene	gene with protein product	teratoma-associated tyrosine kinase, telomerase transcriptional elements-interacting factor, telomerase regulation-associated protein	607982	N-terminal kinase-like	NTKL	NA	11118629	Standard	NM_020680	NM_020680	NA	Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000524944.1:c.1338C>T	11.37:g.65302805C>T		NA	A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	37																																																																																				SCYL1-005	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000389161.2		+	ENST00000524944.1	Silent	SNP	11 : 65302805 - 65302805 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	692	85
IKBKB	3551	broad.mit.edu	37	8	42183581	42183581	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42183581G>A	ENST00000520810.1	+	20	2266	c.2080G>A	c.(2080-2082)Gcc>Acc	p.A694T	IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.A692T|IKBKB_ENST00000416505.2_Missense_Mutation_p.A635T|IKBKB_ENST00000379708.3_Missense_Mutation_p.A471T	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	694					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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 transcription, DNA-dependent|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	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	GCCCTCCACGGCCTCCAACAG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	75	79			NA	NA	8		NA											NA				42183581		2203	4300	6503	SO:0001583	missense			AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365	3551	3551			5960	protein-coding gene	gene with protein product		603258			NA	9878263, 9763654	Standard		NM_001556	NA	Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.2080G>A	8.37:g.42183581G>A	ENSP00000430684:p.Ala694Thr	NA	B4DZ30|O75327	37	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	G	3.381	-0.126295	0.06795	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;T;T;T	0.75050	-0.82;-0.9;-0.72;2.92	5.59	3.82	0.43975	.	0.700478	0.14486	N	0.316644	T	0.45155	0.1328	N	0.01874	-0.695	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.001;0.0	B;B;B;B	0.10450	0.001;0.005;0.001;0.001	T	0.31586	-0.9938	10	0.19590	T	0.45	-19.7841	7.2678	0.26239	0.1521:0.1388:0.7091:0.0	.	635;692;471;694	B4E0U4;O14920-2;B3KRB7;O14920	.;.;.;IKKB_HUMAN	T	694;635;692;471	ENSP00000430684:A694T;ENSP00000404920:A635T;ENSP00000430868:A692T;ENSP00000369030:A471T	ENSP00000369030:A471T	A	+	1	0	IKBKB	42302738	0.004000	0.15560	0.106000	0.21319	0.013000	0.08279	0.339000	0.19875	0.743000	0.32719	-0.448000	0.05591	GCC	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377214.1		+	ENST00000520810.1	Missense_Mutation	SNP	8 : 42183581 - 42183581 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	346	69
NYNRIN	57523	broad.mit.edu	37	14	24884802	24884802	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24884802C>T	ENST00000382554.3	+	9	4165	c.3847C>T	c.(3847-3849)Cgc>Tgc	p.R1283C		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1283					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GGGGGAGAACCGCCTGCTCAC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG	0,3992		0,0,1996	61	66	64		3847	4	0.8	14		64	1,8307		0,1,4153	no	missense	NYNRIN	NM_025081.2	180	0,1,6149	TT,TC,CC	NA	0.012,0.0,0.0081	probably-damaging	1283/1899	24884802	1,12299	1996	4154	6150	SO:0001583	missense			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978	57523	57523			20165	protein-coding gene	gene with protein product	Cousin of GIN1		KIAA1305	KIAA1305	NA	19561090, 17114934	Standard		NM_025081	NA	Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.3847C>T	14.37:g.24884802C>T	ENSP00000371994:p.Arg1283Cys	NA	Q6P153|Q86TR3|Q9HAC4	37	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	C	9.931	1.214810	0.22373	0.0	1.2E-4	ENSG00000205978	ENST00000382554	T	0.10477	2.87	4.93	4.01	0.46588	.	.	.	.	.	T	0.07593	0.0191	N	0.14661	0.345	0.09310	N	1	D	0.56968	0.978	B	0.41299	0.353	T	0.26087	-1.0113	9	0.48119	T	0.1	.	13.0809	0.59114	0.0:0.8251:0.1749:0.0	.	1283	Q9P2P1	NYNRI_HUMAN	C	1283	ENSP00000371994:R1283C	ENSP00000371994:R1283C	R	+	1	0	NYNRIN	23954642	0.996000	0.38824	0.775000	0.31657	0.428000	0.31595	3.095000	0.50235	2.551000	0.86045	0.655000	0.94253	CGC	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412939.1		+	ENST00000382554.3	Missense_Mutation	SNP	14 : 24884802 - 24884802 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	623	108
ZNF382	84911	broad.mit.edu	37	19	37118250	37118250	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37118250G>T	ENST00000435416.1	+	3	2943	c.1448G>T	c.(1447-1449)aGa>aTa	p.R483I	ZNF382_ENST00000439428.1_Missense_Mutation_p.R483I|ZNF382_ENST00000423582.1_Missense_Mutation_p.R435I|ZNF382_ENST00000292928.2_Missense_Mutation_p.R484I			Q96SR6	ZN382_HUMAN	zinc finger protein 382	484	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GTTCATCACAGAATACATACA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	62	61			NA	NA	19		NA											NA				37118250		2203	4300	6503	SO:0001583	missense			AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298	84911	84911		Zinc fingers, C2H2-type, -	17409	protein-coding gene	gene with protein product		609516			NA		Standard	NM_032825	NM_032825	NA	Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000435416.1:c.1448G>T	19.37:g.37118250G>T	ENSP00000410113:p.Arg483Ile	NA	A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	37		.	.	.	.	.	.	.	.	.	.	G	17.00	3.275734	0.59649	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	4.27	4.27	0.50696	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46442	D	0.000297	T	0.46833	0.1413	M	0.88031	2.925	0.45025	D	0.998047	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.70016	0.967;0.967;0.927	T	0.56547	-0.7961	10	0.66056	D	0.02	.	14.5487	0.68050	0.0:0.0:1.0:0.0	.	483;483;484	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	I	435;484;483;483	ENSP00000389722:R435I;ENSP00000292928:R484I;ENSP00000407593:R483I;ENSP00000410113:R483I	ENSP00000292928:R484I	R	+	2	0	ZNF382	41810090	0.000000	0.05858	1.000000	0.80357	0.993000	0.82548	0.470000	0.22084	2.375000	0.81037	0.591000	0.81541	AGA	ZNF382-004	KNOWN	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000340399.1		+	ENST00000435416.1	Missense_Mutation	SNP	19 : 37118250 - 37118250 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	272	47
OSBPL11	114885	broad.mit.edu	37	3	125286413	125286413	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125286413T>C	ENST00000296220.5	-	6	982	c.693A>G	c.(691-693)caA>caG	p.Q231Q		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	231					lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						TTAAGTCTCTTTGTTGTCCTT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	144	151			NA	NA	3		NA											NA				125286413		2203	4300	6503	SO:0001819	synonymous_variant			AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909	114885	114885		Oxysterol binding proteins, Pleckstrin homology (PH) domain containing	16397	protein-coding gene	gene with protein product		606739			NA		Standard	NM_022776	NM_022776	NA	Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.693A>G	3.37:g.125286413T>C		NA	A8K9I7	37	CCDS3033.1																																																																																			OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356295.1		-	ENST00000296220.5	Silent	SNP	3 : 125286413 - 125286413 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	398	42
ACTN2	88	broad.mit.edu	37	1	236902766	236902766	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236902766G>A	ENST00000366578.4	+	10	1207	c.1041G>A	c.(1039-1041)acG>acA	p.T347T	ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Silent_p.T347T	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	347					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ACTTCAACACGCTGCAGACCA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	111	122			NA	NA	1		NA											NA				236902766		2203	4300	6503	SO:0001819	synonymous_variant			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522	88	88		EF-hand domain containing	164	protein-coding gene	gene with protein product		102573			NA	1339456	Standard	NM_001103	NM_001103	NA	Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1041G>A	1.37:g.236902766G>A		NA	B1ANE4|Q86TF4|Q86TI8	37	CCDS1613.1																																																																																			ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096628.1		+	ENST00000366578.4	Silent	SNP	1 : 236902766 - 236902766 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	431	66
C9orf114	51490	broad.mit.edu	37	9	131591124	131591124	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131591124T>C	ENST00000361256.5	-	3	138	c.98A>G	c.(97-99)aAa>aGa	p.K33R		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	33										kidney(2)|large_intestine(4)|ovary(1)	7						CTTCCATTTTTTTTTCTCCTC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	119	117			NA	NA	9		NA											NA				131591124		2203	4300	6503	SO:0001583	missense				CCDS6913.1	9q34.11	2014-05-29			ENSG00000198917	ENSG00000198917	51490	51490			26933	protein-coding gene	gene with protein product	centromere protein 32				NA	20813266	Standard	NM_016390	NM_016390	NA	Approved	HSPC109, CENP-32	uc004bwd.3	Q5T280	OTTHUMG00000020762	ENST00000361256.5:c.98A>G	9.37:g.131591124T>C	ENSP00000354812:p.Lys33Arg	NA	Q0D2P6|Q6P469|Q6PGP9|Q6PIJ1|Q6PJV9	37	CCDS6913.1	.	.	.	.	.	.	.	.	.	.	T	11.48	1.651316	0.29336	.	.	ENSG00000198917	ENST00000361256;ENST00000372618	T	0.24908	1.83	5.16	5.16	0.70880	.	0.092768	0.64402	D	0.000001	T	0.20292	0.0488	L	0.52126	1.63	0.36410	D	0.86368	P;B	0.42409	0.779;0.289	B;B	0.32149	0.141;0.048	T	0.23440	-1.0188	10	0.18710	T	0.47	-15.4133	14.4699	0.67509	0.0:0.0:0.0:1.0	.	33;33	E7ESY7;Q5T280	.;CI114_HUMAN	R	33	ENSP00000354812:K33R	ENSP00000354812:K33R	K	-	2	0	C9orf114	130630945	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.638000	0.54332	2.068000	0.61886	0.459000	0.35465	AAA	C9orf114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054500.1		-	ENST00000361256.5	Missense_Mutation	SNP	9 : 131591124 - 131591124 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	876	166
TLN2	83660	broad.mit.edu	37	15	63029241	63029241	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63029241C>T	ENST00000561311.1	+	28	3753	c.3523C>T	c.(3523-3525)Ctg>Ttg	p.L1175L	TLN2_ENST00000306829.6_Silent_p.L1175L|TLN2_ENST00000559908.1_3'UTR			Q9Y4G6	TLN2_HUMAN	talin 2	1175	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CAAGCAGGCCCTGATTGCACC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	60	61			NA	NA	15		NA											NA				63029241		2203	4300	6503	SO:0001819	synonymous_variant			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914	83660	83660			15447	protein-coding gene	gene with protein product		607349			NA	9205841, 11527381	Standard		NM_015059	NA	Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.3523C>T	15.37:g.63029241C>T		NA	A6NLB8	37	CCDS32261.1																																																																																			TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257878.2		+	ENST00000561311.1	Silent	SNP	15 : 63029241 - 63029241 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	291	23
IKZF2	22807	broad.mit.edu	37	2	213878658	213878658	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:213878658A>G	ENST00000434687.1	-	8	1022	c.713T>C	c.(712-714)gTa>gCa	p.V238A	IKZF2_ENST00000374319.4_Splice_Site_p.V212A|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000342002.2_Splice_Site_p.V244A|IKZF2_ENST00000451136.2_Splice_Site_p.V166A|IKZF2_ENST00000374327.4_Splice_Site_p.V93A|IKZF2_ENST00000457361.1_Splice_Site_p.V238A			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CATAGGAGGTACTATACAAAA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	84	84			NA	NA	2		NA											NA				213878658		2203	4300	6503	SO:0001630	splice_region_variant			AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419	22807	22807		Zinc fingers, C2H2-type, IKAROS zinc fingers	13177	protein-coding gene	gene with protein product		606234	zinc finger protein, subfamily 1A, 2 (Helios)	ZNFN1A2	NA	9512513, 9560339	Standard	NM_016260	NM_001079526	NA	Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.713-1T>C	2.37:g.213878658A>G		NA	Q8N6S1	37	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	A	11.26	1.585743	0.28268	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000374327	T;T;T;T;T;T	0.13307	3.32;3.28;3.32;3.33;3.31;2.6	5.4	5.4	0.78164	.	0.169511	0.40818	N	0.001012	T	0.25005	0.0607	L	0.47716	1.5	0.80722	D	1	D;B;B;B;P	0.61697	0.99;0.0;0.001;0.002;0.877	D;B;B;B;P	0.73380	0.98;0.001;0.003;0.001;0.728	T	0.03852	-1.0998	10	0.02654	T	1	.	14.2769	0.66187	1.0:0.0:0.0:0.0	.	166;93;212;238;16	C9JCG7;F5H8M1;Q9UKS7-2;Q9UKS7;Q96LD7	.;.;.;IKZF2_HUMAN;.	A	238;244;238;212;166;93	ENSP00000410447:V238A;ENSP00000342876:V244A;ENSP00000412869:V238A;ENSP00000363439:V212A;ENSP00000395203:V166A;ENSP00000363447:V93A	ENSP00000342876:V244A	V	-	2	0	IKZF2	213586903	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.779000	0.62375	2.171000	0.68590	0.459000	0.35465	GTA	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256593.3	Missense_Mutation	-	ENST00000434687.1	Splice_Site	SNP	2 : 213878658 - 213878658 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	352	60
RAPGEF2	9693	broad.mit.edu	37	4	160262774	160262774	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:160262774G>A	ENST00000264431.4	+	14	2529	c.2110G>A	c.(2110-2112)Gag>Aag	p.E704K		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	704					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AGATGCTCAGGAGTTGTTGAG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	70	71			NA	NA	4		NA											NA				160262774		1909	4136	6045	SO:0001583	missense			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01			9693	9693			16854	protein-coding gene	gene with protein product	Rap GEP	609530	PDZ domain containing guanine nucleotide exchange factor (GEF) 1	PDZGEF1	NA	9205841, 10934204	Standard	NM_014247	NM_014247	NA	Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.2110G>A	4.37:g.160262774G>A	ENSP00000264431:p.Glu704Lys	NA	D3DP27	37	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549779	0.86127	.	.	ENSG00000109756	ENST00000264431	T	0.28666	1.6	5.76	5.76	0.90799	Guanine-nucleotide dissociation stimulator CDC25 (1);Ras guanine nucleotide exchange factor, domain (1);	0.088202	0.85682	D	0.000000	T	0.44705	0.1306	L	0.60455	1.87	0.80722	D	1	P	0.51057	0.941	P	0.49451	0.611	T	0.35599	-0.9782	10	0.87932	D	0	.	20.3277	0.98707	0.0:0.0:1.0:0.0	.	704	Q9Y4G8	RPGF2_HUMAN	K	704	ENSP00000264431:E704K	ENSP00000264431:E704K	E	+	1	0	RAPGEF2	160482224	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	9.841000	0.99482	2.879000	0.98667	0.650000	0.86243	GAG	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364980.2		+	ENST00000264431.4	Missense_Mutation	SNP	4 : 160262774 - 160262774 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	318	49
SYNE1	23345	broad.mit.edu	37	6	152683354	152683354	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152683354C>A	ENST00000367255.5	-	64	10851	c.10250G>T	c.(10249-10251)aGg>aTg	p.R3417M	SYNE1_ENST00000423061.1_Missense_Mutation_p.R3424M|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000448038.1_Missense_Mutation_p.R3424M|SYNE1_ENST00000265368.4_Missense_Mutation_p.R3417M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3417					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CGCATGCTGCCTTTCTGATTC	0.483		NA								HNSCC(10;0.0054)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	119	124			NA	NA	6		NA											NA				152683354		2203	4300	6503	SO:0001583	missense			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018	23345	23345			17089	protein-coding gene	gene with protein product	myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1	608441	chromosome 6 open reading frame 98	C6orf98	NA	9872452, 10878022	Standard	NM_182961	NM_182961	NA	Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.10250G>T	6.37:g.152683354C>A	ENSP00000356224:p.Arg3417Met	NA	O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713306	0.30413	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.28	4.39	0.52855	.	0.096293	0.44285	D	0.000461	T	0.37461	0.1004	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.65815	0.992;0.992;0.992;0.995	P;P;P;P	0.61800	0.786;0.786;0.786;0.894	T	0.22173	-1.0224	10	0.46703	T	0.11	.	10.8188	0.46593	0.0:0.8525:0.0:0.1475	.	3417;3417;3417;3424	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	M	3417;3424;3417;3424	ENSP00000356224:R3417M;ENSP00000396024:R3424M;ENSP00000265368:R3417M;ENSP00000390975:R3424M	ENSP00000265368:R3417M	R	-	2	0	SYNE1	152725047	1.000000	0.71417	0.940000	0.37924	0.033000	0.12548	2.954000	0.49113	1.315000	0.45114	0.655000	0.94253	AGG	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334755.2		-	ENST00000367255.5	Missense_Mutation	SNP	6 : 152683354 - 152683354 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	402	71
BCMO1	0	broad.mit.edu	37	16	81298250	81298250	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81298250T>G	ENST00000258168.2	+	5	938	c.477T>G	c.(475-477)gaT>gaG	p.D159E	BCMO1_ENST00000425577.2_Missense_Mutation_p.D90E	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN		159					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						TGCAGGTTGATTATCGTAAAT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	130	135			NA	NA	16		NA											NA				81298250		2202	4300	6502	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000258168.2:c.477T>G	16.37:g.81298250T>G	ENSP00000258168:p.Asp159Glu	NA	A0AV48|A0AV50|Q9NVH5	37	CCDS10934.1	.	.	.	.	.	.	.	.	.	.	T	16.99	3.273056	0.59649	.	.	ENSG00000135697	ENST00000258168;ENST00000425577	D;D	0.95656	-3.77;-3.77	4.71	3.61	0.41365	.	0.365800	0.33834	N	0.004502	D	0.96790	0.8952	M	0.85197	2.74	0.42593	D	0.99325	D;D	0.63880	0.993;0.96	D;P	0.63283	0.913;0.856	D	0.95147	0.8269	10	0.39692	T	0.17	-14.6836	7.3337	0.26596	0.0:0.2278:0.0:0.7722	.	90;159	E7EM88;Q9HAY6	.;BCDO1_HUMAN	E	159;90	ENSP00000258168:D159E;ENSP00000400586:D90E	ENSP00000258168:D159E	D	+	3	2	BCMO1	79855751	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	1.050000	0.30404	0.761000	0.33130	0.449000	0.29647	GAT	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269056.1		+	ENST00000258168.2	Missense_Mutation	SNP	16 : 81298250 - 81298250 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	684	180
C1orf173	0	broad.mit.edu	37	1	75037224	75037224	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75037224C>A	ENST00000326665.5	-	14	4388	c.4170G>T	c.(4168-4170)caG>caT	p.Q1390H	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN		1390	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTAACTCATCCTGTTGGTGCC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	100	101			NA	NA	1		NA											NA				75037224		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000326665.5:c.4170G>T	1.37:g.75037224C>A	ENSP00000322609:p.Gln1390His	NA	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	9.727	1.161345	0.21538	.	.	ENSG00000178965	ENST00000326665	T	0.12569	2.67	4.73	0.676	0.17958	.	.	.	.	.	T	0.02418	0.0074	N	0.08118	0	0.09310	N	1	B	0.28584	0.216	B	0.34385	0.181	T	0.45585	-0.9251	9	0.46703	T	0.11	-1.062	8.0007	0.30295	0.0:0.5457:0.0:0.4543	.	1390	Q5RHP9	CA173_HUMAN	H	1390	ENSP00000322609:Q1390H	ENSP00000322609:Q1390H	Q	-	3	2	C1orf173	74809812	0.000000	0.05858	0.002000	0.10522	0.018000	0.09664	0.087000	0.14958	0.081000	0.16988	0.561000	0.74099	CAG	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026516.1		-	ENST00000326665.5	Missense_Mutation	SNP	1 : 75037224 - 75037224 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	581	118
CEP135	9662	broad.mit.edu	37	4	56831839	56831839	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56831839C>T	ENST00000257287.4	+	8	982	c.858C>T	c.(856-858)gaC>gaT	p.D286D		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	286					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					CTAATAAAGACCTGGAGAAGC	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	51	51			NA	NA	4		NA											NA				56831839		2203	4300	6503	SO:0001819	synonymous_variant			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799	9662	9662			29086	protein-coding gene	gene with protein product		611423	KIAA0635, centrosomal protein 4	KIAA0635, CEP4	NA	9734811, 14654843	Standard	NM_025009	NM_025009	NA	Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.858C>T	4.37:g.56831839C>T		NA	B2RMY0|O75130|Q58F25|Q9H8H7	37	CCDS33986.1																																																																																			CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362092.2		+	ENST00000257287.4	Silent	SNP	4 : 56831839 - 56831839 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	232	43
MED12L	116931	broad.mit.edu	37	3	151129262	151129262	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151129262C>T	ENST00000474524.1	+	39	6040	c.6002C>T	c.(6001-6003)tCg>tTg	p.S2001L	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2001	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGCAGGCCTCGCCGTACCTG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	72	72			NA	NA	3		NA											NA				151129262		2203	4300	6503	SO:0001583	missense			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893	116931	116931			16050	protein-coding gene	gene with protein product		611318	mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like		NA	11524702	Standard	NM_053002	XM_006713487	NA	Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.6002C>T	3.37:g.151129262C>T	ENSP00000417235:p.Ser2001Leu	NA	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	37	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084020	0.55861	.	.	ENSG00000144893	ENST00000474524	T	0.57907	0.37	5.75	5.75	0.90469	Mediator complex, subunit Med12, catenin-binding (1);	0.198038	0.45361	D	0.000371	T	0.45337	0.1337	L	0.29908	0.895	0.80722	D	1	B	0.23591	0.088	B	0.23275	0.045	T	0.36817	-0.9732	10	0.62326	D	0.03	-4.2631	17.7294	0.88373	0.0:1.0:0.0:0.0	.	2001	Q86YW9	MD12L_HUMAN	L	2001	ENSP00000417235:S2001L	ENSP00000417235:S2001L	S	+	2	0	MED12L	152611952	0.197000	0.23362	0.555000	0.28281	0.539000	0.34962	5.434000	0.66526	2.708000	0.92522	0.650000	0.86243	TCG	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357707.2		+	ENST00000474524.1	Missense_Mutation	SNP	3 : 151129262 - 151129262 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	540	76
PIAS2	9063	broad.mit.edu	37	18	44470901	44470901	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44470901G>A	ENST00000585916.1	-	2	140	c.141C>T	c.(139-141)agC>agT	p.S47S	PIAS2_ENST00000545673.1_Intron|PIAS2_ENST00000324794.7_Silent_p.S47S	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	47					androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						GGCTGCAGCCGCTCTTCAATA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	71	71			NA	NA	18		NA											NA				44470901		2203	4300	6503	SO:0001819	synonymous_variant			AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043	9063	9063		Zinc fingers, MIZ-type	17311	protein-coding gene	gene with protein product	zinc finger, MIZ-type containing 4	603567			NA	9724754, 9256341	Standard	NM_004671	NM_004671	NA	Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.141C>T	18.37:g.44470901G>A		NA	O75927|Q96BT5|Q96KE3	37	CCDS32824.1																																																																																			PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445656.2		-	ENST00000585916.1	Silent	SNP	18 : 44470901 - 44470901 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	570	67
SPOCD1	90853	broad.mit.edu	37	1	32262200	32262200	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32262200C>T	ENST00000360482.2	-	10	2391	c.2262G>A	c.(2260-2262)gaG>gaA	p.E754E	SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Silent_p.E247E|SPOCD1_ENST00000533231.1_Silent_p.E754E	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	754					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		ccaccaGATCCTCCAGGGTCA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	126	138			NA	NA	1		NA											NA				32262200		2203	4300	6503	SO:0001819	synonymous_variant			AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668	90853	90853			26338	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 146				NA	12477932	Standard	NM_144569	NM_144569	NA	Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.2262G>A	1.37:g.32262200C>T		NA	Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	37	CCDS347.1																																																																																			SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381912.1		-	ENST00000360482.2	Silent	SNP	1 : 32262200 - 32262200 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	456	53
SLITRK4	139065	broad.mit.edu	37	X	142717676	142717676	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:142717676T>C	ENST00000381779.4	-	2	1474	c.1249A>G	c.(1249-1251)Aag>Gag	p.K417E	SLITRK4_ENST00000356928.1_Missense_Mutation_p.K417E|SLITRK4_ENST00000338017.4_Missense_Mutation_p.K417E	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	417						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					ACGTCTCCCTTAATCACTGTA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	113	120			NA	NA	X		NA											NA				142717676		2203	4300	6503	SO:0001583	missense			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542	139065	139065			23502	protein-coding gene	gene with protein product		300562			NA	14557068	Standard	NM_173078	NM_001184749	NA	Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1249A>G	X.37:g.142717676T>C	ENSP00000371198:p.Lys417Glu	NA	Q5JXG3|Q8TCM8|Q96DL3	37	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	T	9.702	1.154735	0.21371	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.50001	0.76;0.76;0.76	5.29	4.09	0.47781	.	0.172029	0.47852	D	0.000218	T	0.18841	0.0452	N	0.01817	-0.705	0.35030	D	0.758698	B	0.02656	0.0	B	0.06405	0.002	T	0.15263	-1.0443	10	0.10902	T	0.67	-12.1744	9.6744	0.40032	0.0:0.0:0.3327:0.6672	.	417	Q8IW52	SLIK4_HUMAN	E	417	ENSP00000371198:K417E;ENSP00000349400:K417E;ENSP00000336627:K417E	ENSP00000336627:K417E	K	-	1	0	SLITRK4	142545342	1.000000	0.71417	0.885000	0.34714	0.972000	0.66771	1.931000	0.40134	0.718000	0.32166	0.437000	0.28790	AAG	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058617.1		-	ENST00000381779.4	Missense_Mutation	SNP	X : 142717676 - 142717676 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	424	126
GZF1	64412	broad.mit.edu	37	20	23350364	23350364	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23350364C>T	ENST00000338121.5	+	5	1848	c.1771C>T	c.(1771-1773)Cgg>Tgg	p.R591W	GZF1_ENST00000377051.2_Missense_Mutation_p.R591W|GZF1_ENST00000544236.1_Missense_Mutation_p.R115W|GZF1_ENST00000542987.1_Missense_Mutation_p.R100W			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	591					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GTCCACTCTTCGGCGGCACAC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	68	74			NA	NA	20		NA											NA				23350364		2203	4300	6503	SO:0001583	missense			AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812	64412	64412		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	15808	protein-coding gene	gene with protein product		613842	zinc finger protein 336	ZNF336	NA	14522971, 16049025	Standard	NM_022482	NM_022482	NA	Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.1771C>T	20.37:g.23350364C>T	ENSP00000338290:p.Arg591Trp	NA	A8K199|B2RBC3|B3KPL4|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	37	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869343	0.91587	.	.	ENSG00000125812	ENST00000544236;ENST00000338121;ENST00000542987;ENST00000377051	T;T;T;T	0.35973	3.16;1.28;3.16;1.28	5.95	5.0	0.66597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000097	T	0.58119	0.2100	M	0.69185	2.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57763	-0.7755	10	0.37606	T	0.19	.	15.7072	0.77592	0.1377:0.8623:0.0:0.0	.	591	Q9H116	GZF1_HUMAN	W	115;591;100;591	ENSP00000445458:R115W;ENSP00000338290:R591W;ENSP00000445118:R100W;ENSP00000366250:R591W	ENSP00000338290:R591W	R	+	1	2	GZF1	23298364	0.988000	0.35896	0.996000	0.52242	0.969000	0.65631	4.887000	0.63156	1.507000	0.48752	0.655000	0.94253	CGG	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078333.1		+	ENST00000338121.5	Missense_Mutation	SNP	20 : 23350364 - 23350364 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	406	72
ZNF646	9726	broad.mit.edu	37	16	31089384	31089384	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31089384G>A	ENST00000394979.2	+	1	2162	c.1739G>A	c.(1738-1740)tGt>tAt	p.C580Y	ZNF646_ENST00000300850.5_Missense_Mutation_p.C580Y			O15015	ZN646_HUMAN	zinc finger protein 646	580					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TGTAGCATCTGTGGGCTGCTC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	102	101			NA	NA	16		NA											NA				31089384		2197	4300	6497	SO:0001583	missense			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395	9726	9726		Zinc fingers, C2H2-type	29004	protein-coding gene	gene with protein product					NA		Standard	NM_014699	NM_014699	NA	Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.1739G>A	16.37:g.31089384G>A	ENSP00000378429:p.Cys580Tyr	NA	Q8IVD8	37		.	.	.	.	.	.	.	.	.	.	G	17.61	3.431314	0.62844	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.57752	0.38;0.38	5.2	5.2	0.72013	.	.	.	.	.	T	0.61739	0.2371	L	0.32530	0.975	0.43300	D	0.995291	D	0.67145	0.996	D	0.63192	0.912	T	0.64732	-0.6338	9	0.87932	D	0	-3.1242	17.6776	0.88235	0.0:0.0:1.0:0.0	.	580	O15015-2	.	Y	580	ENSP00000300850:C580Y;ENSP00000378429:C580Y	ENSP00000300850:C580Y	C	+	2	0	ZNF646	30996885	1.000000	0.71417	0.982000	0.44146	0.936000	0.57629	2.425000	0.44723	2.722000	0.93159	0.655000	0.94253	TGT	ZNF646-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000108510.2		+	ENST00000394979.2	Missense_Mutation	SNP	16 : 31089384 - 31089384 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	412	62
ERC2	26059	broad.mit.edu	37	3	56468991	56468991	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:56468991A>G	ENST00000288221.6	-	2	300	c.45T>C	c.(43-45)ccT>ccC	p.P15P		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	15						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GGGATCTGGAAGGGCTACCTT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	99	101			NA	NA	3		NA											NA				56468991		1901	4124	6025	SO:0001819	synonymous_variant			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672	26059	26059			31922	protein-coding gene	gene with protein product					NA		Standard	NM_015576	NM_015576	NA	Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.45T>C	3.37:g.56468991A>G		NA	Q2T9F6|Q86TK4	37	CCDS46851.1																																																																																			ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350884.2		-	ENST00000288221.6	Silent	SNP	3 : 56468991 - 56468991 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	236	36
NLGN1	22871	broad.mit.edu	37	3	173998885	173998885	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:173998885G>A	ENST00000457714.1	+	7	2693	c.2264G>A	c.(2263-2265)cGg>cAg	p.R755Q	NLGN1_ENST00000401917.3_Missense_Mutation_p.R795Q|NLGN1_ENST00000545397.1_Missense_Mutation_p.R755Q|NLGN1_ENST00000361589.4_Missense_Mutation_p.R755Q	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	772					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.R755Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GTGGTTCTTCGGACCGCCTGT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											175	151	159			NA	NA	3		NA											NA				173998885		2203	4300	6503	SO:0001583	missense			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760	22871	22871			14291	protein-coding gene	gene with protein product		600568			NA	10767552, 10819331	Standard	NM_014932	NM_014932	NA	Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.2264G>A	3.37:g.173998885G>A	ENSP00000392500:p.Arg755Gln	NA	Q9UPT2	37	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	35	5.583377	0.96578	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.70399	-0.47;-0.47;-0.47;-0.48	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.84492	0.5484	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	D	0.85217	0.1024	10	0.72032	D	0.01	.	19.9737	0.97296	0.0:0.0:1.0:0.0	.	755	Q8N2Q7-2	.	Q	755;755;755;795	ENSP00000392500:R755Q;ENSP00000354541:R755Q;ENSP00000441108:R755Q;ENSP00000385750:R795Q	ENSP00000354541:R755Q	R	+	2	0	NLGN1	175481579	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.009000	0.88606	2.793000	0.96121	0.591000	0.81541	CGG	NLGN1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347054.3		+	ENST00000457714.1	Missense_Mutation	SNP	3 : 173998885 - 173998885 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	443	78
SYNE3	161176	broad.mit.edu	37	14	95921720	95921720	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95921720G>T	ENST00000334258.5	-	5	1145	c.1131C>A	c.(1129-1131)cgC>cgA	p.R377R	SYNE3_ENST00000557275.1_Silent_p.R377R|SYNE3_ENST00000554873.1_Silent_p.R134R|SYNE3_ENST00000553340.1_Silent_p.R377R	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3	NA										breast(1)|endometrium(2)|lung(25)	28						TTACCGAGTAGCGTCTCCAGT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	31	30			NA	NA	14		NA											NA				95921720		2202	4299	6501	SO:0001819	synonymous_variant			AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438	161176	161176			19861	protein-coding gene	gene with protein product		610861	chromosome 14 open reading frame 49	C14orf49	NA		Standard	NM_152592	NM_152592	NA	Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.1131C>A	14.37:g.95921720G>T		NA		37	CCDS9935.1																																																																																			SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000420529.2		-	ENST00000334258.5	Silent	SNP	14 : 95921720 - 95921720 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	218	37
LPAR1	1902	broad.mit.edu	37	9	113704156	113704156	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113704156G>A	ENST00000374431.3	-	4	721	c.338C>T	c.(337-339)aCt>aTt	p.T113I	LPAR1_ENST00000358883.4_Missense_Mutation_p.T113I|LPAR1_ENST00000374430.2_Missense_Mutation_p.T113I|LPAR1_ENST00000538760.1_Missense_Mutation_p.T114I|LPAR1_ENST00000541779.1_Missense_Mutation_p.T114I	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	113					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						CAGTCTCCGAGTATTGGGTCC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(115;661 2323 9836 34256)							NA				0													151	153	152			NA	NA	9		NA											NA				113704156		2203	4300	6503	SO:0001583	missense			U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121	1902	1902		GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid	3166	protein-coding gene	gene with protein product		602282	endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2	EDG2	NA	8922387, 9070858	Standard	NM_057159	NM_001401	NA	Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.338C>T	9.37:g.113704156G>A	ENSP00000363553:p.Thr113Ile	NA	O00656|O00722|P78351	37	CCDS6777.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.474455	0.84640	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760;ENST00000441240	T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	5.53	5.53	0.82687	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.86176	0.5870	M	0.84773	2.715	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79108	0.992;0.992;0.992	D	0.88001	0.2756	10	0.87932	D	0	.	18.45	0.90700	0.0:0.0:1.0:0.0	.	114;114;113	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	I	113;114;113;113;95;114;113	ENSP00000363553:T113I;ENSP00000445697:T114I;ENSP00000363552:T113I;ENSP00000351755:T113I;ENSP00000440201:T114I;ENSP00000401810:T113I	ENSP00000351755:T113I	T	-	2	0	LPAR1	112743977	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	9.869000	0.99810	2.616000	0.88540	0.655000	0.94253	ACT	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053631.1		-	ENST00000374431.3	Missense_Mutation	SNP	9 : 113704156 - 113704156 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	934	147
SCRIB	23513	broad.mit.edu	37	8	144893409	144893409	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144893409C>A	ENST00000356994.2	-	10	1019	c.1013G>T	c.(1012-1014)aGc>aTc	p.S338I	SCRIB_ENST00000377533.3_Missense_Mutation_p.S257I|SCRIB_ENST00000320476.3_Missense_Mutation_p.S338I	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	338	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGAGAGGACGCTGAGTGCCAC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(51;966 1133 10533 14576 29674)							NA				0													30	25	27			NA	NA	8		NA											NA				144893409		2200	4296	6496	SO:0001583	missense			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900	23513	23513			30377	protein-coding gene	gene with protein product		607733	scribbled homolog (Drosophila)		NA	11027293, 14681682	Standard	NM_015356	NM_182706	NA	Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000356994.2:c.1013G>T	8.37:g.144893409C>A	ENSP00000349486:p.Ser338Ile	NA	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	37	CCDS6412.1	.	.	.	.	.	.	.	.	.	.	C	8.457	0.854506	0.17106	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.52295	2.24;0.67;1.85	3.28	1.39	0.22231	.	.	.	.	.	T	0.31670	0.0804	N	0.20328	0.56	0.32440	N	0.546881	P;P	0.43973	0.725;0.823	B;B	0.43838	0.347;0.433	T	0.43393	-0.9394	9	0.72032	D	0.01	.	4.1911	0.10421	0.0:0.5296:0.2014:0.2691	.	338;338	Q14160;Q14160-3	SCRIB_HUMAN;.	I	338;338;257	ENSP00000349486:S338I;ENSP00000322938:S338I;ENSP00000366756:S257I	ENSP00000322938:S338I	S	-	2	0	SCRIB	144965397	0.998000	0.40836	0.056000	0.19401	0.002000	0.02628	3.038000	0.49783	0.694000	0.31654	-0.302000	0.09304	AGC	SCRIB-002	NOVEL	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382214.2		-	ENST00000356994.2	Missense_Mutation	SNP	8 : 144893409 - 144893409 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	113	20
C5AR2	27202	broad.mit.edu	37	19	47844125	47844125	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47844125C>T	ENST00000595464.1	+	2	287	c.69C>T	c.(67-69)tgC>tgT	p.C23C	C5AR2_ENST00000600626.1_Silent_p.C23C|C5AR2_ENST00000257267.2_Silent_p.C23C	NM_001271749.1	NP_001258678.1			complement component 5a receptor 2	NA											NA						CTGTGGACTGCCTGGATGGCG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	63	62			NA	NA	19		NA											NA				47844125		2203	4300	6503	SO:0001819	synonymous_variant			AB038237	CCDS12699.1	19q13.33	2013-01-28	2013-01-28	2013-01-28		ENSG00000134830	27202	27202		GPCR / Class A : Complement component receptors	4527	protein-coding gene	gene with protein product		609949	G protein-coupled receptor 77	GPR77	NA	11165367	Standard	NM_018485	NM_018485	NA	Approved	C5L2	uc010ela.1	Q9P296		ENST00000595464.1:c.69C>T	19.37:g.47844125C>T		NA		37	CCDS12699.1																																																																																			C5AR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466926.1		+	ENST00000595464.1	Silent	SNP	19 : 47844125 - 47844125 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	708	41
COL19A1	1310	broad.mit.edu	37	6	70608839	70608839	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70608839G>A	ENST00000322773.4	+	3	193		c.e3-1			NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	NA					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TTTTTAAATAGAAGAGTCATG	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	69	68			NA	NA	6		NA											NA				70608839		2203	4298	6501	SO:0001630	splice_region_variant				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293	1310	1310		Collagens	2196	protein-coding gene	gene with protein product		120165			NA	7916703, 9143499	Standard		NM_001858	NA	Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.92-1G>A	6.37:g.70608839G>A		NA	Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	37	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.263867	0.23136	.	.	ENSG00000082293	ENST00000322773	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1338	0.72545	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL19A1	70665560	0.997000	0.39634	0.935000	0.37517	0.032000	0.12392	2.586000	0.46119	2.721000	0.93114	0.650000	0.86243	.	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041127.1	Intron	+	ENST00000322773.4	Splice_Site	SNP	6 : 70608839 - 70608839 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	238	43
MAP1B	4131	broad.mit.edu	37	5	71495341	71495341	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71495341G>T	ENST00000296755.7	+	5	6457	c.6159G>T	c.(6157-6159)caG>caT	p.Q2053H		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2053						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GAACCCCTCAGGCATCCACAT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(17;367 822 11631 31730 47712)							NA				0													119	130	126			NA	NA	5		NA											NA				71495341		2203	4300	6503	SO:0001583	missense			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711	4131	4131			6836	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 102	157129			NA	1881920	Standard	NM_005909	NM_005909	NA	Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.6159G>T	5.37:g.71495341G>T	ENSP00000296755:p.Gln2053His	NA	A2BDK5	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	3.864	-0.029292	0.07589	.	.	ENSG00000131711	ENST00000296755	T	0.03272	3.99	5.68	2.4	0.29515	.	0.098257	0.45126	D	0.000385	T	0.02380	0.0073	N	0.08118	0	0.09310	N	0.999998	D;B	0.58970	0.984;0.011	P;B	0.46796	0.527;0.005	T	0.44742	-0.9308	10	0.52906	T	0.07	-18.0727	3.7741	0.08653	0.313:0.0:0.4124:0.2745	.	1927;2053	A2BDK6;P46821	.;MAP1B_HUMAN	H	2053	ENSP00000296755:Q2053H	ENSP00000296755:Q2053H	Q	+	3	2	MAP1B	71531097	0.273000	0.24181	0.614000	0.29051	0.294000	0.27393	0.403000	0.20982	0.711000	0.32018	0.655000	0.94253	CAG	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000218561.6		+	ENST00000296755.7	Missense_Mutation	SNP	5 : 71495341 - 71495341 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	785	138
GEMIN4	50628	broad.mit.edu	37	17	650531	650531	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:650531G>A	ENST00000437269.1	-	3	530				GEMIN4_ENST00000576778.1_Missense_Mutation_p.A240V|GEMIN4_ENST00000319004.5_Missense_Mutation_p.A251V			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	NA					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CTCTGTCAGCGCAAACACAGT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	95	92			NA	NA	17		NA											NA				650531		2176	4267	6443	SO:0001627	intron_variant			AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409	50628	50628			15717	protein-coding gene	gene with protein product	HCC-associated protein 1, component of gems 4	606969			NA	10725331	Standard	NM_015721	NM_015721	NA	Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000437269.1:c.499-9C>T	17.37:g.650531G>A		NA	Q9NZS7|Q9UG32|Q9Y4Q2	37		.	.	.	.	.	.	.	.	.	.	G	14.88	2.667588	0.47677	.	.	ENSG00000179409	ENST00000319004	T	0.18174	2.23	5.5	5.5	0.81552	.	0.382752	0.28834	N	0.013998	T	0.34513	0.0900	M	0.62723	1.935	0.80722	D	1	D	0.69078	0.997	P	0.59056	0.851	T	0.02214	-1.1194	10	0.18276	T	0.48	-12.6579	18.3807	0.90449	0.0:0.0:1.0:0.0	.	251	P57678	GEMI4_HUMAN	V	251	ENSP00000321706:A251V	ENSP00000321706:A251V	A	-	2	0	GEMIN4	597281	1.000000	0.71417	0.956000	0.39512	0.119000	0.20118	4.413000	0.59795	2.591000	0.87537	0.650000	0.86243	GCG	GEMIN4-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000437183.1		-	ENST00000437269.1	Intron	SNP	17 : 650531 - 650531 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	535	124
RTCB	51493	broad.mit.edu	37	22	32808119	32808119	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32808119G>A	ENST00000216038.5	-	1	123	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L	RTCB_ENST00000451746.2_Silent_p.L9L	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase	NA											NA						AAGAACTGCAGCTCATCATTA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	92	92			NA	NA	22		NA											NA				32808119		2203	4300	6503	SO:0001819	synonymous_variant			BC016707	CCDS13905.1	22q12.3	2013-05-22	2013-05-22	2013-05-22	ENSG00000100220	ENSG00000100220	51493	51493	6.5.1.3		26935	protein-coding gene	gene with protein product	focal adhesion-associated protein	613901	chromosome 22 open reading frame 28	C22orf28	NA	11042152, 21209330, 21311021	Standard	NM_014306	NM_014306	NA	Approved	HSPC117, FAAP		Q9Y3I0	OTTHUMG00000030300	ENST00000216038.5:c.25C>T	22.37:g.32808119G>A		NA		37	CCDS13905.1																																																																																			RTCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075188.3		-	ENST00000216038.5	Silent	SNP	22 : 32808119 - 32808119 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	830	155
ZNF76	7629	broad.mit.edu	37	6	35255528	35255528	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35255528T>C	ENST00000373953.3	+	5	604	c.338T>C	c.(337-339)gTa>gCa	p.V113A	ZNF76_ENST00000339411.5_Missense_Mutation_p.V113A|ZNF76_ENST00000440666.2_Missense_Mutation_p.V87A	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	113					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						ATCCTGGCCGTACAGACAGAG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(52;92 1039 20612 23956 34676)							NA				0													105	91	95			NA	NA	6		NA											NA				35255528		2203	4300	6503	SO:0001583	missense			M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029	7629	7629		Zinc fingers, C2H2-type	13149	protein-coding gene	gene with protein product		194549	zinc finger protein 76 (expressed in testis)	D6S229E	NA	1427894	Standard	NM_003427	XM_005249364	NA	Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.338T>C	6.37:g.35255528T>C	ENSP00000363064:p.Val113Ala	NA	Q9BQB2	37	CCDS4801.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.146691	0.37923	.	.	ENSG00000065029	ENST00000469195;ENST00000448999;ENST00000373953;ENST00000417184;ENST00000440666;ENST00000339411	T;T;T;T	0.09445	2.98;3.01;2.99;3.0	5.17	5.17	0.71159	.	0.000000	0.38897	N	0.001531	T	0.12518	0.0304	L	0.39397	1.21	0.45852	D	0.998718	P;D;B;B	0.61697	0.745;0.99;0.093;0.029	B;P;B;B	0.57371	0.251;0.819;0.026;0.012	T	0.01130	-1.1442	10	0.72032	D	0.01	.	14.3428	0.66639	0.0:0.0:0.0:1.0	.	113;113;113;113	B7Z851;B7Z991;P36508-2;P36508	.;.;.;ZNF76_HUMAN	A	113;113;113;113;87;113	ENSP00000419106:V113A;ENSP00000363064:V113A;ENSP00000392243:V87A;ENSP00000344097:V113A	ENSP00000229405:V113A	V	+	2	0	ZNF76	35363506	1.000000	0.71417	0.980000	0.43619	0.001000	0.01503	7.493000	0.81493	2.167000	0.68274	0.533000	0.62120	GTA	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040279.2		+	ENST00000373953.3	Missense_Mutation	SNP	6 : 35255528 - 35255528 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	220	42
SLC5A7	60482	broad.mit.edu	37	2	108609485	108609485	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:108609485C>T	ENST00000264047.2	+	4	626	c.350C>T	c.(349-351)cCg>cTg	p.P117L	SLC5A7_ENST00000409059.1_Missense_Mutation_p.P117L|SLC5A7_ENST00000540517.1_Missense_Mutation_p.P12L	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	117					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	ATGTTAGACCCGTTTCAGCAA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	148	148			NA	NA	2		NA											NA				108609485		2203	4300	6503	SO:0001583	missense			AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665	60482	60482		Solute carriers	14025	protein-coding gene	gene with protein product		608761	solute carrier family 5 (choline transporter), member 7		NA	11027560	Standard		NM_021815	NA	Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.350C>T	2.37:g.108609485C>T	ENSP00000264047:p.Pro117Leu	NA	Q53TF2	37	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	C	35	5.509118	0.96386	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.86030	-2.06;-2.06;-2.06	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.94712	0.8294	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93150	0.6549	10	0.34782	T	0.22	-2.5788	20.8598	0.99761	0.0:1.0:0.0:0.0	.	117	Q9GZV3	SC5A7_HUMAN	L	117;12;117	ENSP00000387346:P117L;ENSP00000445351:P12L;ENSP00000264047:P117L	ENSP00000264047:P117L	P	+	2	0	SLC5A7	107975917	1.000000	0.71417	0.986000	0.45419	0.997000	0.91878	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	CCG	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253562.1		+	ENST00000264047.2	Missense_Mutation	SNP	2 : 108609485 - 108609485 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	773	197
AP4E1	23431	broad.mit.edu	37	15	51289963	51289963	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51289963G>A	ENST00000561397.1	+	0	18				AP4E1_ENST00000560508.1_Silent_p.V854V|AP4E1_ENST00000261842.5_Silent_p.V929V			Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	NA					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		CTATATCAGTGTCTTCTTATA	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	62	60			NA	NA	15		NA											NA				51289963		2196	4294	6490	SO:0001624	3_prime_UTR_variant			AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014	23431	23431			573	protein-coding gene	gene with protein product		607244			NA	10436028, 21620353	Standard		NM_007347	NA	Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000561397.1:c.*15G>A	15.37:g.51289963G>A		NA	A0AVD6|A1L4A9|A6NNX7|Q9Y588	37																																																																																				AP4E1-006	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000418659.1		+	ENST00000561397.1	3'UTR	SNP	15 : 51289963 - 51289963 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	53
TH	7054	broad.mit.edu	37	11	2189854	2189854	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2189854G>A	ENST00000381178.1	-	4	465	c.447C>T	c.(445-447)gcC>gcT	p.A149A	TH_ENST00000333684.5_Silent_p.A122A|TH_ENST00000352909.3_Silent_p.A118A|TH_ENST00000381175.1_Silent_p.A145A	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	149					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GCGGCCTCTGGGCGGGCCGGG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	15	14			NA	NA	11		NA											NA				2189854		2176	4284	6460	SO:0001819	synonymous_variant			X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	7054	7054	1.14.16.2		11782	protein-coding gene	gene with protein product	tyrosine 3-monooxygenase	191290			NA		Standard	NM_000360	NM_199292	NA	Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.447C>T	11.37:g.2189854G>A		NA	B7ZL70|Q15585|Q15588|Q15589	37	CCDS7731.1																																																																																			TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026597.1		-	ENST00000381178.1	Silent	SNP	11 : 2189854 - 2189854 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	236	62
IL6ST	3572	broad.mit.edu	37	5	55237234	55237234	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55237234C>T	ENST00000381298.2	-	17	2745	c.2433G>A	c.(2431-2433)agG>agA	p.R811R	IL6ST_ENST00000502326.3_Silent_p.R811R|CTD-2031P19.5_ENST00000576302.1_RNA|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000381294.3_Silent_p.R750R|IL6ST_ENST00000336909.5_Silent_p.R811R|IL6ST_ENST00000536319.1_3'UTR	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	811					interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				AGTACTGTTGCCTGGGCAAAA	0.433		NA	O		hepatocellular ca									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		5	5q11	3572	interleukin 6 signal transducer (gp130, oncostatin M receptor)		E	0													95	97	96			NA	NA	5		NA											NA				55237234		2203	4300	6503	SO:0001819	synonymous_variant			M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352	3572	3572		Interleukins and interleukin receptors, CD molecules, Fibronectin type III domain containing	6021	protein-coding gene	gene with protein product	gp130, oncostatin M receptor	600694	interleukin 6 signal transducer (gp130, oncostatin M receptor)		NA	2261637	Standard	NM_002184	NM_002184	NA	Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.2433G>A	5.37:g.55237234C>T		NA	A0N0L4|Q9UQ41	37	CCDS3971.1																																																																																			IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214146.3		-	ENST00000381298.2	Silent	SNP	5 : 55237234 - 55237234 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	723	137
CACNA1C	775	broad.mit.edu	37	12	2774091	2774091	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2774091A>C	ENST00000399655.1	+	35	4598	c.4333A>C	c.(4333-4335)Aca>Cca	p.T1445P	CACNA1C_ENST00000399597.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T1434P|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T1473P|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T1470P|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000347598.4_Missense_Mutation_p.T1493P|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T1432P|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T1434P|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T1465P|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T1462P|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T1467P|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T1445P	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1493					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GGAGGGTGAAACACCCTGTGG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	59	57			NA	NA	12		NA											NA				2774091		2203	4300	6503	SO:0001583	missense			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067	775	775		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1	NA	1650913, 16382099	Standard	NM_000719	NM_001129832	NA	Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000399655.1:c.4333A>C	12.37:g.2774091A>C	ENSP00000382563:p.Thr1445Pro	NA	B2RUT3|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	37	CCDS44794.1	.	.	.	.	.	.	.	.	.	.	A	5.093	0.202823	0.09652	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96365	-3.92;-3.92;-3.92;-3.88;-3.91;-3.93;-3.83;-3.88;-3.91;-3.81;-3.84;-3.92;-3.94;-3.83;-3.76;-3.99;-3.93;-3.91;-3.94;-3.85;-3.94;-3.99	4.07	-1.38	0.09027	Ion transport (1);	0.447550	0.25619	N	0.029437	D	0.88153	0.6360	N	0.04959	-0.14	0.09310	N	1	B;P;P;B;B;B;P;B;B;B;B;P;B;B;P;B;P;B;B;B;B;B;B;B;B	0.45827	0.001;0.755;0.49;0.009;0.351;0.351;0.49;0.228;0.016;0.129;0.228;0.683;0.009;0.429;0.492;0.003;0.867;0.0;0.351;0.0;0.256;0.351;0.351;0.003;0.256	B;P;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.44518	0.005;0.452;0.315;0.032;0.334;0.264;0.315;0.322;0.141;0.15;0.264;0.409;0.022;0.322;0.357;0.026;0.439;0.003;0.334;0.003;0.099;0.264;0.264;0.005;0.176	D	0.84372	0.0544	10	0.40728	T	0.16	.	5.47	0.16664	0.3668:0.3625:0.2706:0.0	.	136;1467;1442;1493;1445;1445;1445;1462;1473;1445;1465;1445;1405;1493;1445;1445;1445;1434;1432;1434;1434;1445;1445;1445;1445	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	P	1470;1445;1445;1473;1445;1445;1445;1434;1445;1493;1465;1445;1467;1462;1445;1432;1445;1445;1445;1445;1445;1434;1275	ENSP00000336982:T1470P;ENSP00000382563:T1445P;ENSP00000382552:T1445P;ENSP00000382547:T1473P;ENSP00000382506:T1445P;ENSP00000382530:T1445P;ENSP00000382546:T1445P;ENSP00000382500:T1434P;ENSP00000382549:T1445P;ENSP00000266376:T1493P;ENSP00000382515:T1465P;ENSP00000382510:T1445P;ENSP00000341092:T1467P;ENSP00000382537:T1462P;ENSP00000329877:T1445P;ENSP00000382557:T1432P;ENSP00000385724:T1445P;ENSP00000382512:T1445P;ENSP00000382542:T1445P;ENSP00000382526:T1445P;ENSP00000385896:T1445P;ENSP00000382504:T1434P	ENSP00000323129:T1275P	T	+	1	0	CACNA1C	2644352	0.001000	0.12720	0.000000	0.03702	0.008000	0.06430	0.426000	0.21363	-0.335000	0.08451	-1.251000	0.01509	ACA	CACNA1C-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317019.2		+	ENST00000399655.1	Missense_Mutation	SNP	12 : 2774091 - 2774091 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	183	28
FCGBP	8857	broad.mit.edu	37	19	40357401	40357401	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40357401C>T	ENST00000221347.6	-	34	15919	c.15912G>A	c.(15910-15912)acG>acA	p.T5304T		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5304	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TTGGAGTCAACGTCACCATCC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	127	129			NA	NA	19		NA											NA				40357401		2203	4300	6503	SO:0001819	synonymous_variant			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395	8857	8857			13572	protein-coding gene	gene with protein product	IgG Fc binding protein, Human Fc gamma BP				NA	9182547	Standard	NM_003890	NM_003890	NA	Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15912G>A	19.37:g.40357401C>T		NA	O95784	37	CCDS12546.1																																																																																			FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462507.1		-	ENST00000221347.6	Silent	SNP	19 : 40357401 - 40357401 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	36
BTBD11	121551	broad.mit.edu	37	12	107937870	107937870	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107937870G>A	ENST00000280758.5	+	3	1972	c.1444G>A	c.(1444-1446)Gaa>Aaa	p.E482K	BTBD11_ENST00000490090.2_Missense_Mutation_p.E482K|BTBD11_ENST00000420571.2_Missense_Mutation_p.E482K	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	482						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AATGGAATGGGAAAACCCCAA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	58	61			NA	NA	12		NA											NA				107937870		2203	4300	6503	SO:0001583	missense			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136	121551	121551		BTB/POZ domain containing, Ankyrin repeat domain containing	23844	protein-coding gene	gene with protein product					NA		Standard	NM_152322	XM_005268645	NA	Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1444G>A	12.37:g.107937870G>A	ENSP00000280758:p.Glu482Lys	NA	A4FU41|C9J019|C9JK80|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	37	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857972	0.91433	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000550706;ENST00000415943	T;T;T;T;T	0.48522	1.22;1.29;1.26;0.82;0.81	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.69904	0.3163	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	0.998;0.997;1.0	D;D;D	0.91635	0.991;0.98;0.999	T	0.65882	-0.6060	10	0.32370	T	0.25	.	19.76	0.96311	0.0:0.0:1.0:0.0	.	482;482;482	A6QL63-2;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	K	482;482;482;113;116	ENSP00000280758:E482K;ENSP00000413889:E482K;ENSP00000447319:E482K;ENSP00000447606:E113K;ENSP00000407416:E116K	ENSP00000280758:E482K	E	+	1	0	BTBD11	106462000	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.852000	0.99516	2.666000	0.90696	0.655000	0.94253	GAA	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318003.1		+	ENST00000280758.5	Missense_Mutation	SNP	12 : 107937870 - 107937870 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	272	7
TAF1L	138474	broad.mit.edu	37	9	32632632	32632632	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32632632G>T	ENST00000242310.4	-	1	3035	c.2946C>A	c.(2944-2946)ttC>ttA	p.F982L		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	982					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCACATAGGAGAATCCTTCAC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													200	183	189			NA	NA	9		NA											NA				32632632		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.2946C>A	9.37:g.32632632G>T	ENSP00000418379:p.Phe982Leu	NA	Q0VG57	37	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164757	0.78339	.	.	ENSG00000122728	ENST00000242310	T	0.15139	2.45	1.04	-1.05	0.10036	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.113396	0.64402	D	0.000003	T	0.41488	0.1161	M	0.94021	3.485	0.53688	D	0.999975	D	0.69078	0.997	D	0.70716	0.97	T	0.24476	-1.0159	10	0.87932	D	0	.	4.2663	0.10764	0.725:0.0:0.275:0.0	.	982	Q8IZX4	TAF1L_HUMAN	L	982	ENSP00000418379:F982L	ENSP00000418379:F982L	F	-	3	2	TAF1L	32622632	1.000000	0.71417	0.991000	0.47740	0.866000	0.49608	2.705000	0.47127	-0.347000	0.08299	0.195000	0.17529	TTC	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052012.2		-	ENST00000242310.4	Missense_Mutation	SNP	9 : 32632632 - 32632632 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	663	20
PAQR8	85315	broad.mit.edu	37	6	52268422	52268422	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52268422G>A	ENST00000442253.2	+	2	585	c.411G>A	c.(409-411)gaG>gaA	p.E137E	PAQR8_ENST00000360726.3_Silent_p.E137E	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	137					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					CCAAGTCAGAGCTCTCCCACT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	137	145			NA	NA	6		NA											NA				52268422		2203	4300	6503	SO:0001819	synonymous_variant			AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915	85315	85315			15708	protein-coding gene	gene with protein product		607780	chromosome 6 open reading frame 33	C6orf33	NA	11676489, 12574519	Standard	NM_133367	NM_133367	NA	Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.411G>A	6.37:g.52268422G>A		NA	B2RCF6|Q86WL0|Q8N6D3|Q9HD02	37	CCDS4941.1																																																																																			PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040903.2		+	ENST00000442253.2	Silent	SNP	6 : 52268422 - 52268422 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	690	143
MAPKBP1	23005	broad.mit.edu	37	15	42116132	42116132	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42116132C>T	ENST00000457542.2	+	29	4372	c.4086C>T	c.(4084-4086)ccC>ccT	p.P1362P	MAPKBP1_ENST00000260357.7_Silent_p.P1201P|MAPKBP1_ENST00000514566.1_Intron|MAPKBP1_ENST00000456763.2_Silent_p.P1368P|MAPKBP1_ENST00000221214.6_Silent_p.P1245P	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1368										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CCAGCAGCCCCTGTGCCCAGC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	62	59			NA	NA	15		NA											NA				42116132		2203	4300	6503	SO:0001819	synonymous_variant			AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802	23005	23005		WD repeat domain containing	29536	protein-coding gene	gene with protein product			mitogen activated protein kinase binding protein 1		NA	9628581, 10471813	Standard	NM_014994	NM_014994	NA	Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000457542.2:c.4086C>T	15.37:g.42116132C>T		NA	A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	37	CCDS32201.1																																																																																			MAPKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359744.1		+	ENST00000457542.2	Silent	SNP	15 : 42116132 - 42116132 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	653	117
RGS9BP	388531	broad.mit.edu	37	19	33167833	33167833	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33167833C>T	ENST00000334176.3	+	1	1521	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L		NM_207391.2	NP_997274.2	Q6ZS82	R9BP_HUMAN	regulator of G protein signaling 9 binding protein	222					negative regulation of signal transduction	integral to membrane				central_nervous_system(1)|lung(2)	3	Esophageal squamous(110;0.137)					CGCCGTGCTGCTGGCGGCTGT	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													7	10	9			NA	NA	19		NA											NA				33167833		1756	3593	5349	SO:0001819	synonymous_variant			AW302149	CCDS12424.1	19q13.11	2008-02-05	2007-08-14			ENSG00000186326	388531	388531			30304	protein-coding gene	gene with protein product		607814	regulator of G protein signalling 9 binding protein		NA	12119397, 8889548	Standard	NM_207391	NM_207391	NA	Approved	FLJ45744, PERRS, R9AP, RGS9	uc002ntp.1	Q6ZS82		ENST00000334176.3:c.664C>T	19.37:g.33167833C>T		NA	Q6ZVJ6	37	CCDS12424.1																																																																																			RGS9BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450337.1		+	ENST00000334176.3	Silent	SNP	19 : 33167833 - 33167833 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	150	25
B3GALT4	8705	broad.mit.edu	37	6	33245950	33245950	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33245950C>T	ENST00000451237.1	+	1	1034	c.754C>T	c.(754-756)Cct>Tct	p.P252S		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	252					protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						GGAGCAGTGGCCTCACACCTG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	51	50			NA	NA	6		NA											NA				33245950		2203	4300	6503	SO:0001583	missense			Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863	8705	8705		Beta 3-glycosyltransferases	919	protein-coding gene	gene with protein product		603095			NA	9582303	Standard		NM_003782	NA	Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.754C>T	6.37:g.33245950C>T	ENSP00000390784:p.Pro252Ser	NA		37	CCDS34425.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229448	0.58777	.	.	ENSG00000235863	ENST00000451237	T	0.55234	0.53	4.49	4.49	0.54785	.	0.155147	0.42548	D	0.000681	T	0.39172	0.1068	L	0.58969	1.84	0.37649	D	0.922334	P	0.47677	0.899	P	0.45998	0.5	T	0.45220	-0.9276	10	0.49607	T	0.09	.	8.3233	0.32142	0.0:0.8953:0.0:0.1047	.	252	O96024	B3GT4_HUMAN	S	252	ENSP00000390784:P252S	ENSP00000390784:P252S	P	+	1	0	B3GALT4	33353928	0.998000	0.40836	0.998000	0.56505	0.918000	0.54935	2.563000	0.45922	2.334000	0.79466	0.643000	0.83706	CCT	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076162.2		+	ENST00000451237.1	Missense_Mutation	SNP	6 : 33245950 - 33245950 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	486	108
ERBB3	2065	broad.mit.edu	37	12	56489582	56489582	+	Missense_Mutation	SNP	C	C	T	rs56387488		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56489582C>T	ENST00000267101.3	+	17	2487	c.2047C>T	c.(2047-2049)Cgg>Tgg	p.R683W	ERBB3_ENST00000450146.2_Missense_Mutation_p.R40W|ERBB3_ENST00000415288.2_Missense_Mutation_p.R624W	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	683			R -> W (in dbSNP:rs56387488).		cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ATACTTGGAACGGGGTGAGGT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	145	132	137		2047	4	1	12	dbSNP_129	137	0,8600		0,0,4300	yes	missense	ERBB3	NM_001982.3	101	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging	683/1343	56489582	1,13005	2203	4300	6503	SO:0001583	missense			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361	2065	2065			3431	protein-coding gene	gene with protein product		190151	lethal congenital contracture syndrome 2	LCCS2	NA		Standard		NM_001982	NA	Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.2047C>T	12.37:g.56489582C>T	ENSP00000267101:p.Arg683Trp	NA	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	37	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804868	0.70682	2.27E-4	0.0	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288	T;T;T	0.78595	-1.19;-1.09;-1.18	4.86	3.96	0.45880	.	0.000000	0.56097	D	0.000031	T	0.80116	0.4564	L	0.29908	0.895	0.44579	D	0.997543	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.965	T	0.81385	-0.0957	10	0.87932	D	0	.	10.8559	0.46798	0.4657:0.5343:0.0:0.0	rs56387488	624;683	P21860-4;P21860	.;ERBB3_HUMAN	W	683;40;624	ENSP00000267101:R683W;ENSP00000399178:R40W;ENSP00000408340:R624W	ENSP00000267101:R683W	R	+	1	2	ERBB3	54775849	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	0.540000	0.23191	1.258000	0.44101	0.655000	0.94253	CGG	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407619.3		+	ENST00000267101.3	Missense_Mutation	SNP	12 : 56489582 - 56489582 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	543	99
TUBA8	51807	broad.mit.edu	37	22	18609586	18609586	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18609586G>A	ENST00000316027.6	+	4	991	c.643G>A	c.(643-645)Gcc>Acc	p.A215T	TUBA8_ENST00000330423.3_Missense_Mutation_p.A281T	NM_001193414.1	NP_001180343.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	281					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						TGCCGAGAAAGCCTATCACGA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	92	99			NA	NA	22		NA											NA				18609586		2203	4300	6503	SO:0001583	missense			AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785	51807	51807		Tubulins	12410	protein-coding gene	gene with protein product		605742		TUBAL2	NA	10772959, 10591208	Standard	NM_018943	NM_001193414	NA	Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000316027.6:c.643G>A	22.37:g.18609586G>A	ENSP00000318575:p.Ala215Thr	NA	B2RCX2|Q2M3N4	37	CCDS54495.1	.	.	.	.	.	.	.	.	.	.	.	21.7	4.183629	0.78677	.	.	ENSG00000183785	ENST00000316027;ENST00000330423;ENST00000416740	D;D;D	0.82081	-1.57;-1.57;-1.57	5.67	5.67	0.87782	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92443	0.7601	H	0.96048	3.76	0.80722	D	1	P;P;B	0.49783	0.91;0.928;0.064	P;P;B	0.51945	0.569;0.685;0.058	D	0.94254	0.7496	10	0.87932	D	0	.	19.1191	0.93355	0.0:0.0:1.0:0.0	.	215;305;281	B3KPW9;C9J2C0;Q9NY65	.;.;TBA8_HUMAN	T	215;281;305	ENSP00000318575:A215T;ENSP00000333326:A281T;ENSP00000412646:A305T	ENSP00000318575:A215T	A	+	1	0	TUBA8	16989586	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.837000	0.97791	0.655000	0.94253	GCC	TUBA8-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316233.2		+	ENST00000316027.6	Missense_Mutation	SNP	22 : 18609586 - 18609586 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	617	118
ZNF558	148156	broad.mit.edu	37	19	8931980	8931980	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8931980G>A	ENST00000601372.1	-	7	834	c.123C>T	c.(121-123)ggC>ggT	p.G41G	ZNF558_ENST00000444186.2_5'UTR|ZNF558_ENST00000301475.1_Silent_p.G41G			Q96NG5	ZN558_HUMAN	zinc finger protein 558	41					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						AGGTTACCAAGCCCTAAAGCA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	136	142			NA	NA	19		NA											NA				8931980		2203	4300	6503	SO:0001819	synonymous_variant			AK055494	CCDS12208.1	19p13.2	2013-09-20			ENSG00000167785	ENSG00000167785	148156	148156		Zinc fingers, C2H2-type, -	26422	protein-coding gene	gene with protein product					NA		Standard	NM_144693	NM_144693	NA	Approved	FLJ30932	uc002mkn.1	Q96NG5	OTTHUMG00000182196	ENST00000601372.1:c.123C>T	19.37:g.8931980G>A		NA	A8K5F0	37	CCDS12208.1																																																																																			ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459955.2		-	ENST00000601372.1	Silent	SNP	19 : 8931980 - 8931980 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	542	114
LRP1	4035	broad.mit.edu	37	12	57588276	57588276	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57588276C>T	ENST00000243077.3	+	49	8524	c.8058C>T	c.(8056-8058)cgC>cgT	p.R2686R		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2686	LDL-receptor class A 14.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTGATGAGCGCGACTGCCCAG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	85	85			NA	NA	12		NA											NA				57588276		2203	4299	6502	SO:0001819	synonymous_variant			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384	4035	4035		CD molecules, Low density lipoprotein receptors	6692	protein-coding gene	gene with protein product		107770	alpha-2-macroglobulin receptor	APR, A2MR	NA	2548950	Standard	NM_002332	NM_002332	NA	Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.8058C>T	12.37:g.57588276C>T		NA	Q2PP12|Q8IVG8	37	CCDS8932.1																																																																																			LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412772.2		+	ENST00000243077.3	Silent	SNP	12 : 57588276 - 57588276 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1091	95
FBXL18	80028	broad.mit.edu	37	7	5521531	5521531	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5521531C>T	ENST00000382368.3	-	5	2155	c.2032G>A	c.(2032-2034)Gtc>Atc	p.V678I		NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	0									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GGGAAGATGACGACGTTTAAC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	83	80			NA	NA	7		NA											NA				5521531		2056	4180	6236	SO:0001583	missense			AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034	80028	80028		F-boxes / Leucine-rich repeats	21874	protein-coding gene	gene with protein product		609084			NA		Standard	NM_024963	NM_024963	NA	Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.2032G>A	7.37:g.5521531C>T	ENSP00000371805:p.Val678Ile	NA	Q9BR90|Q9BTC7|Q9HAK7	37	CCDS43546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.93|19.93	3.918844|3.918844	0.73098|0.73098	.|.	.|.	ENSG00000155034|ENSG00000155034	ENST00000297035|ENST00000382368	.|T	.|0.52295	.|0.67	4.83|4.83	3.95|3.95	0.45737|0.45737	.|.	.|.	.|.	.|.	.|.	T|T	0.41743|0.41743	0.1172|0.1172	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.62365	.|0.991	.|P	.|0.46110	.|0.504	T|T	0.19811|0.19811	-1.0294|-1.0294	5|8	0.87932|0.32370	D|T	0|0.25	.|.	8.5691|8.5691	0.33558|0.33558	0.0:0.7655:0.1521:0.0824|0.0:0.7655:0.1521:0.0824	.|.	.|678	.|Q96ME1-4	.|.	H|I	237|678	.|ENSP00000371805:V678I	ENSP00000297035:R237H|ENSP00000371805:V678I	R|V	-|-	2|1	0|0	FBXL18|FBXL18	5488057|5488057	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.845000|0.845000	0.48019|0.48019	3.693000|3.693000	0.54735|0.54735	1.167000|1.167000	0.42706|0.42706	-0.294000|-0.294000	0.09567|0.09567	CGT|GTC	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324093.1		-	ENST00000382368.3	Missense_Mutation	SNP	7 : 5521531 - 5521531 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	734	124
LYST	1130	broad.mit.edu	37	1	235826308	235826308	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235826308G>A	ENST00000389794.3	-	53	11512	c.11338C>T	c.(11338-11340)Cgg>Tgg	p.R3780W	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.R3780W			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3780					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGGTCCTTCCGACACCAGGCA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	114	113			NA	NA	1		NA											NA				235826308		2203	4300	6503	SO:0001583	missense			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669	1130	1130		WD repeat domain containing	1968	protein-coding gene	gene with protein product		606897	Chediak-Higashi syndrome 1	CHS1	NA	8717042, 8896560	Standard		NM_000081	NA	Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.11338C>T	1.37:g.235826308G>A	ENSP00000374444:p.Arg3780Trp	NA	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.974511	0.92919	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.28666	1.6;1.6	5.87	4.94	0.65067	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.056042	0.64402	D	0.000001	T	0.41143	0.1146	N	0.16833	0.445	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.48433	-0.9036	10	0.87932	D	0	.	16.154	0.81644	0.0:0.0:0.8655:0.1345	.	3780	Q99698	LYST_HUMAN	W	3780	ENSP00000374444:R3780W;ENSP00000374443:R3780W	ENSP00000374443:R3780W	R	-	1	2	LYST	233892931	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	7.789000	0.85783	1.443000	0.47586	0.655000	0.94253	CGG	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097533.5		-	ENST00000389794.3	Missense_Mutation	SNP	1 : 235826308 - 235826308 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	748	181
GRM7	2917	broad.mit.edu	37	3	7620618	7620618	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:7620618G>A	ENST00000486284.1	+	8	2299	c.2025G>A	c.(2023-2025)acG>acA	p.T675T	GRM7_ENST00000403881.1_Silent_p.T675T|GRM7_ENST00000389336.4_Silent_p.T675T|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Silent_p.T675T|GRM7_ENST00000357716.4_Silent_p.T675T	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	675					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CCCTCTTGACGAAAACAAATC	0.458		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	100	90	93		2025,2025	-12.3	0.7	3		93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	GRM7	NM_000844.3,NM_181874.2	,	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	,	675/916,675/923	7620618	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277	2917	2917		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4599	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 87	604101			NA	8288585, 8840028	Standard	NM_000844	NM_000844	NA	Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000486284.1:c.2025G>A	3.37:g.7620618G>A		NA	Q8NFS2|Q8NFS3|Q8NFS4	37																																																																																				GRM7-015	PUTATIVE	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000354360.1		+	ENST00000486284.1	Silent	SNP	3 : 7620618 - 7620618 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	314	36
KMT2C	58508	broad.mit.edu	37	7	151842307	151842307	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151842307G>A	ENST00000262189.6	-	54	14323	c.14105C>T	c.(14104-14106)gCc>gTc	p.A4702V	KMT2C_ENST00000355193.2_Missense_Mutation_p.A4759V	NM_170606.2	NP_733751.2			lysine (K)-specific methyltransferase 2C	NA											NA						GGGGTTAACGGCAAGAGGAAG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	86	90			NA	NA	7		NA											NA				151842307		2203	4300	6503	SO:0001583	missense			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609	58508	58508		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	13726	protein-coding gene	gene with protein product		606833	myeloid/lymphoid or mixed-lineage leukemia 3	MLL3	NA	10819331	Standard		XM_005250026	NA	Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.14105C>T	7.37:g.151842307G>A	ENSP00000262189:p.Ala4702Val	NA		37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876461	0.72180	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877	D;D;D	0.89746	-1.9;-1.89;-2.56	5.23	5.23	0.72850	.	0.000000	0.44285	U	0.000465	D	0.92701	0.7680	L	0.54323	1.7	0.80722	D	1	D;D;D	0.76494	0.999;0.995;0.995	D;P;P	0.80764	0.994;0.893;0.893	D	0.90036	0.4138	10	0.22109	T	0.4	.	19.161	0.93531	0.0:0.0:1.0:0.0	.	4702;3820;4759	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	V	4702;4759;1319	ENSP00000262189:A4702V;ENSP00000347325:A4759V;ENSP00000410411:A1319V	ENSP00000262189:A4702V	A	-	2	0	MLL3	151473240	1.000000	0.71417	0.984000	0.44739	0.996000	0.88848	5.497000	0.66924	2.607000	0.88179	0.655000	0.94253	GCC	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318887.3		-	ENST00000262189.6	Missense_Mutation	SNP	7 : 151842307 - 151842307 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	426	86
EPC1	80314	broad.mit.edu	37	10	32560597	32560597	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32560597G>A	ENST00000319778.6	-	13	2556	c.2254C>T	c.(2254-2256)Cga>Tga	p.R752*	EPC1_ENST00000263062.8_Nonsense_Mutation_p.R775*|EPC1_ENST00000375110.2_Nonsense_Mutation_p.R702*	NM_001272004.1|NM_001272019.2	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	775					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				GGTATATGTCGTGCATTTATT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													216	197	204			NA	NA	10		NA											NA				32560597		2203	4300	6503	SO:0001587	stop_gained			AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616	80314	80314			19876	protein-coding gene	gene with protein product		610999			NA	10976108	Standard		NM_025209	NA	Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000319778.6:c.2254C>T	10.37:g.32560597G>A	ENSP00000318559:p.Arg752*	NA	B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	37		.	.	.	.	.	.	.	.	.	.	G	42	9.302857	0.99130	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	.	.	.	5.24	5.24	0.73138	.	0.247523	0.41001	D	0.000976	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-7.3252	18.8808	0.92354	0.0:0.0:1.0:0.0	.	.	.	.	X	702;752;775	.	ENSP00000263062:R775X	R	-	1	2	EPC1	32600603	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.245000	0.72398	2.442000	0.82660	0.306000	0.20318	CGA	EPC1-002	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000047482.1		-	ENST00000319778.6	Nonsense_Mutation	SNP	10 : 32560597 - 32560597 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1130	198
NIN	51199	broad.mit.edu	37	14	51224230	51224230	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51224230G>A	ENST00000530997.2	-	16	3517	c.3518C>T	c.(3517-3519)tCt>tTt	p.S1173F	NIN_ENST00000453196.1_Missense_Mutation_p.S1173F|NIN_ENST00000382041.3_Missense_Mutation_p.S1173F|NIN_ENST00000389868.3_Intron|NIN_ENST00000245441.5_Missense_Mutation_p.S1173F|NIN_ENST00000324330.9_Missense_Mutation_p.S1173F|NIN_ENST00000382043.4_Intron			Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1173					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TGAAGCTTCAGACTCCTCTAT	0.493		NA	T	PDGFRB	MPD									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0													125	130	128			NA	NA	14		NA											NA				51224230		2203	4300	6503	SO:0001583	missense			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503	51199	51199		EF-hand domain containing	14906	protein-coding gene	gene with protein product		608684			NA	11004522, 11162463	Standard	NM_182946	NM_020921	NA	Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000530997.2:c.3518C>T	14.37:g.51224230G>A	ENSP00000436092:p.Ser1173Phe	NA	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	37		.	.	.	.	.	.	.	.	.	.	G	8.869	0.948780	0.18356	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	T;T;T;T	0.08282	3.37;3.11;3.11;3.11	5.78	3.91	0.45181	.	0.571186	0.18572	N	0.137314	T	0.15955	0.0384	M	0.67953	2.075	0.20074	N	0.999934	D;D;D;D	0.56746	0.968;0.968;0.977;0.96	P;P;P;P	0.54100	0.68;0.727;0.742;0.605	T	0.11179	-1.0598	10	0.48119	T	0.1	-6.9812	5.2825	0.15682	0.2186:0.2878:0.4936:0.0	.	1179;1173;1173;1173	Q8N4C6-5;C9J066;Q8N4C6;Q8N4C6-7	.;.;NIN_HUMAN;.	F	1173;1156;1179;1173;1173;1173	ENSP00000245441:S1173F;ENSP00000371472:S1173F;ENSP00000324210:S1173F;ENSP00000412391:S1173F	ENSP00000245441:S1173F	S	-	2	0	NIN	50293980	0.011000	0.17503	0.912000	0.35992	0.102000	0.19082	0.647000	0.24812	0.761000	0.33130	0.563000	0.77884	TCT	NIN-017	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000395210.2		-	ENST00000530997.2	Missense_Mutation	SNP	14 : 51224230 - 51224230 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	835	21
CBFA2T2	9139	broad.mit.edu	37	20	32199034	32199034	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32199034C>T	ENST00000492345.1	+	5	938	c.253C>T	c.(253-255)Cga>Tga	p.R85*	CBFA2T2_ENST00000375279.2_Nonsense_Mutation_p.R114*|CBFA2T2_ENST00000359606.3_Nonsense_Mutation_p.R124*|CBFA2T2_ENST00000342704.6_Nonsense_Mutation_p.R105*|CBFA2T2_ENST00000346541.3_Nonsense_Mutation_p.R114*|CBFA2T2_ENST00000397800.1_Nonsense_Mutation_p.R85*|CBFA2T2_ENST00000344201.3_Nonsense_Mutation_p.R85*|CBFA2T2_ENST00000397798.2_Nonsense_Mutation_p.R85*			O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	114	Pro-rich.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						TTGTGGTGCTCGACAACTCAG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(174;142 1955 14837 21276 28041)							NA				0													183	156	165			NA	NA	20		NA											NA				32199034		2203	4300	6503	SO:0001587	stop_gained			AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699	9139	9139		Zinc fingers, MYND-type	1536	protein-coding gene	gene with protein product		603672			NA	9790752	Standard	NM_001032999	XM_006723886	NA	Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000492345.1:c.253C>T	20.37:g.32199034C>T	ENSP00000433270:p.Arg85*	NA	B2RAE6|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	37		.	.	.	.	.	.	.	.	.	.	C	40	8.059881	0.98632	.	.	ENSG00000078699	ENST00000375279;ENST00000342704;ENST00000417366;ENST00000344201;ENST00000346541;ENST00000397800;ENST00000397798;ENST00000359606	.	.	.	5.54	3.5	0.40072	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.3704	13.1758	0.59626	0.42:0.58:0.0:0.0	.	.	.	.	X	114;105;105;85;114;85;85;124	.	ENSP00000345810:R105X	R	+	1	2	CBFA2T2	31662695	0.995000	0.38212	1.000000	0.80357	0.986000	0.74619	1.525000	0.35953	0.614000	0.30107	0.655000	0.94253	CGA	CBFA2T2-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000078709.3		+	ENST00000492345.1	Nonsense_Mutation	SNP	20 : 32199034 - 32199034 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	764	146
DCAF12L2	340578	broad.mit.edu	37	X	125299102	125299102	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:125299102G>A	ENST00000360028.2	-	1	832	c.806C>T	c.(805-807)gCc>gTc	p.A269V	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.A269V			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	269										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCCGCTGAAGGCCAGGGCCCG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	48	47			NA	NA	X		NA											NA				125299102		2203	4300	6503	SO:0001583	missense			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354	340578	340578		WD repeat domain containing	32950	protein-coding gene	gene with protein product			WD repeat domain 40C	WDR40C	NA		Standard	NM_001013628	NM_001013628	NA	Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.806C>T	X.37:g.125299102G>A	ENSP00000353128:p.Ala269Val	NA	B2RN42	37	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.666061	0.67700	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.66995	-0.24;-0.24	3.72	2.81	0.32909	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.36134	N	0.002769	T	0.76026	0.3930	M	0.66939	2.045	0.35993	D	0.836822	D	0.89917	1.0	D	0.83275	0.996	T	0.78768	-0.2075	10	0.51188	T	0.08	.	7.8955	0.29704	0.0:0.2492:0.7508:0.0	.	269	Q5VW00	DC122_HUMAN	V	269	ENSP00000441489:A269V;ENSP00000353128:A269V	ENSP00000353128:A269V	A	-	2	0	DCAF12L2	125126783	1.000000	0.71417	0.930000	0.37139	0.970000	0.65996	8.043000	0.89432	0.876000	0.35872	0.544000	0.68410	GCC	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058181.1		-	ENST00000360028.2	Missense_Mutation	SNP	X : 125299102 - 125299102 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	79
FILIP1	27145	broad.mit.edu	37	6	76072528	76072528	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76072528G>A	ENST00000393004.2	-	3	603	c.382C>T	c.(382-384)Cac>Tac	p.H128Y	RP11-415D17.3_ENST00000588761.1_RNA|FILIP1_ENST00000237172.7_Missense_Mutation_p.H128Y|RP11-415D17.3_ENST00000440220.1_RNA|RP11-415D17.3_ENST00000591821.2_RNA|FILIP1_ENST00000370020.1_Missense_Mutation_p.H29Y|RP11-415D17.3_ENST00000415457.2_RNA|RP11-415D17.3_ENST00000419709.1_RNA			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	128								p.H128N(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GCATCTCGGTGCAGGACCCGC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											118	118	118			NA	NA	6		NA											NA				76072528		2203	4300	6503	SO:0001583	missense			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407	27145	27145			21015	protein-coding gene	gene with protein product		607307			NA	10574462	Standard	XM_029179	XM_005248713	NA	Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000393004.2:c.382C>T	6.37:g.76072528G>A	ENSP00000376728:p.His128Tyr	NA	B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	37		.	.	.	.	.	.	.	.	.	.	G	29.9	5.049184	0.93740	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.43688	0.94;0.94;0.94	5.99	5.99	0.97316	Cortactin-binding protein-2, N-terminal (1);	0.051098	0.85682	D	0.000000	T	0.36276	0.0961	N	0.22421	0.69	0.80722	D	1	D;P;P	0.59767	0.986;0.941;0.927	P;P;P	0.53006	0.715;0.592;0.561	T	0.14531	-1.0469	10	0.54805	T	0.06	-19.3947	20.4777	0.99188	0.0:0.0:1.0:0.0	.	128;128;128	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	Y	128;128;29	ENSP00000376728:H128Y;ENSP00000237172:H128Y;ENSP00000359037:H29Y	ENSP00000237172:H128Y	H	-	1	0	FILIP1	76129248	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.993000	0.88291	2.840000	0.97914	0.655000	0.94253	CAC	FILIP1-004	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000471226.1		-	ENST00000393004.2	Missense_Mutation	SNP	6 : 76072528 - 76072528 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	578	90
ANKS1B	56899	broad.mit.edu	37	12	99837462	99837462	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:99837462T>C	ENST00000547776.2	-	11	1563	c.1564A>G	c.(1564-1566)Att>Gtt	p.I522V	ANKS1B_ENST00000547010.1_Missense_Mutation_p.I102V|ANKS1B_ENST00000329257.7_Missense_Mutation_p.I522V	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	522						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TGGGGTCGAATGACTTTTACA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	148	150			NA	NA	12		NA											NA				99837462		1887	4109	5996	SO:0001583	missense			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10					56899	56899		Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	24600	protein-coding gene	gene with protein product		607815			NA	10490826, 12415113	Standard	NM_020140	NM_020140	NA	Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.1564A>G	12.37:g.99837462T>C	ENSP00000449629:p.Ile522Val	NA	A5PKY5|A7E259|A8K153|A8MSN4|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	37	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	T	17.60	3.430242	0.62844	.	.	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000549866	T;T;T;T	0.61627	0.87;0.09;0.87;0.72	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.67562	0.2906	L	0.40543	1.245	0.80722	D	1	D;P;P	0.56968	0.978;0.948;0.803	D;D;P	0.70227	0.968;0.949;0.847	T	0.65372	-0.6184	9	.	.	.	-11.2955	15.1596	0.72771	0.0:0.0:0.0:1.0	.	488;102;522	F8VVQ4;Q7Z6G8-6;Q7Z6G8	.;.;ANS1B_HUMAN	V	522;102;522;101;488	ENSP00000449629:I522V;ENSP00000448512:I102V;ENSP00000331381:I522V;ENSP00000449894:I488V	.	I	-	1	0	ANKS1B	98361593	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	6.759000	0.74934	2.317000	0.78254	0.460000	0.39030	ATT	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408421.3		-	ENST00000547776.2	Missense_Mutation	SNP	12 : 99837462 - 99837462 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	298	40
SUGP2	10147	broad.mit.edu	37	19	19129997	19129997	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19129997C>T	ENST00000601879.1	-	4	2068	c.1771G>A	c.(1771-1773)Gac>Aac	p.D591N	SUGP2_ENST00000456085.2_Missense_Mutation_p.D360N|SUGP2_ENST00000600377.1_Missense_Mutation_p.D605N|SUGP2_ENST00000337018.6_Missense_Mutation_p.D591N|SUGP2_ENST00000452918.2_Missense_Mutation_p.D591N			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	591					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ACAAGCTGGTCGATGGTGCCC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	83	88			NA	NA	19		NA											NA				19129997		2203	4300	6503	SO:0001583	missense			AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607	10147	10147		G patch domain containing	18641	protein-coding gene	gene with protein product		607993	splicing factor, arginine/serine-rich 14	SFRS14	NA	12594045	Standard	NM_001017392	NM_014884	NA	Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.1771G>A	19.37:g.19129997C>T	ENSP00000472286:p.Asp591Asn	NA	C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	37	CCDS12392.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.712747	0.30413	.	.	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918;ENST00000456085	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.59	4.56	0.56223	SWAP/Surp (1);	0.357866	0.26959	N	0.021622	T	0.35068	0.0919	L	0.27053	0.805	0.30034	N	0.813201	B;B;B	0.25719	0.132;0.044;0.018	B;B;B	0.22386	0.039;0.027;0.018	T	0.40572	-0.9556	10	0.87932	D	0	-11.2567	11.5267	0.50584	0.0:0.9163:0.0:0.0837	.	360;591;591	E7ETX7;A8K5G0;Q8IX01	.;.;SUGP2_HUMAN	N	591;591;591;360	ENSP00000337926:D591N;ENSP00000332373:D591N;ENSP00000389380:D591N;ENSP00000409603:D360N	ENSP00000332373:D591N	D	-	1	0	SUGP2	18990997	0.987000	0.35691	0.869000	0.34112	0.027000	0.11550	2.858000	0.48356	1.368000	0.46115	0.655000	0.94253	GAC	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464627.1		-	ENST00000601879.1	Missense_Mutation	SNP	19 : 19129997 - 19129997 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	251	35
PLEC	5339	broad.mit.edu	37	8	144997698	144997698	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144997698C>T	ENST00000322810.4	-	31	6979	c.6810G>A	c.(6808-6810)gcG>gcA	p.A2270A	PLEC_ENST00000356346.3_Silent_p.A2119A|PLEC_ENST00000436759.2_Silent_p.A2160A|PLEC_ENST00000357649.2_Silent_p.A2137A|PLEC_ENST00000354958.2_Silent_p.A2111A|PLEC_ENST00000345136.3_Silent_p.A2133A|PLEC_ENST00000398774.2_Silent_p.A2101A|PLEC_ENST00000354589.3_Silent_p.A2133A|PLEC_ENST00000527096.1_Silent_p.A2156A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2270	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCTCTGCAGCCGCCTGTGCCT	0.736		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													8	10	10			NA	NA	8		NA											NA				144997698		1961	4043	6004	SO:0001819	synonymous_variant			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209	5339	5339			9069	protein-coding gene	gene with protein product		601282	plectin 1, intermediate filament binding protein, 500kD, epidermolysis bullosa simplex 1 (Ogna), plectin 1, intermediate filament binding protein 500kDa	EBS1, PLEC1	NA	8633055, 8696340	Standard	NM_000445	XM_005250976	NA	Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6810G>A	8.37:g.144997698C>T		NA	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	37	CCDS43772.1																																																																																			PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383281.1		-	ENST00000322810.4	Silent	SNP	8 : 144997698 - 144997698 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	179	33
GTPBP3	84705	broad.mit.edu	37	19	17452019	17452019	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17452019C>T	ENST00000324894.8	+	8	1209	c.1141C>T	c.(1141-1143)Ccg>Tcg	p.P381S	GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000361619.5_Missense_Mutation_p.P403S|GTPBP3_ENST00000358792.7_Missense_Mutation_p.P413S|GTPBP3_ENST00000600625.1_Missense_Mutation_p.P360S	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	381					tRNA modification	mitochondrion	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						CCTGCTGTCCCCGGAGGGCCC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	34	34			NA	NA	19		NA											NA				17452019		2203	4300	6503	SO:0001583	missense			AF360742	CCDS32950.1, CCDS32951.1, CCDS56088.1, CCDS59364.1	19p13.2	2008-02-05				ENSG00000130299	84705	84705			14880	protein-coding gene	gene with protein product		608536			NA	1290633	Standard	NM_032620	NM_001128855	NA	Approved	MSS1, THDF1, GTPBG3, MTGP1, FLJ14700	uc010xpo.2	Q969Y2		ENST00000324894.8:c.1141C>T	19.37:g.17452019C>T	ENSP00000313818:p.Pro381Ser	NA	A6NFH1|A6NKR4|A8K7B4|Q8TCY6|Q8WUW9|Q969G4|Q9BX61	37	CCDS32951.1	.	.	.	.	.	.	.	.	.	.	C	9.463	1.093545	0.20471	.	.	ENSG00000130299	ENST00000361619;ENST00000324894;ENST00000358792	T;T;T	0.13420	2.59;2.59;2.59	5.31	-10.6	0.00265	.	1.867520	0.02671	N	0.108547	T	0.04861	0.0131	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.0;0.002;0.001	T	0.29150	-1.0021	10	0.40728	T	0.16	1.6133	1.9569	0.03378	0.1559:0.2459:0.3338:0.2643	.	403;381;360;413	A6NIG5;Q969Y2;Q969Y2-3;Q969Y2-2	.;GTPB3_HUMAN;.;.	S	403;381;413	ENSP00000354598:P403S;ENSP00000313818:P381S;ENSP00000351644:P413S	ENSP00000313818:P381S	P	+	1	0	GTPBP3	17313019	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-3.115000	0.00598	-1.760000	0.01312	-1.370000	0.01191	CCG	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463624.1		+	ENST00000324894.8	Missense_Mutation	SNP	19 : 17452019 - 17452019 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	197	10
ZNF239	8187	broad.mit.edu	37	10	44053102	44053102	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44053102C>A	ENST00000306006.6	-	2	1078	c.426G>T	c.(424-426)caG>caT	p.Q142H	ZNF239_ENST00000426961.1_Missense_Mutation_p.Q142H|ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000374446.2_Missense_Mutation_p.Q142H|ZNF239_ENST00000535642.1_Missense_Mutation_p.Q142H	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATTCTTTTAACTGGCCATTCT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	96	99			NA	NA	10		NA											NA				44053102		1893	4117	6010	SO:0001583	missense			X82125	CCDS41502.1	10q11.22-q11.23	2013-01-08			ENSG00000196793	ENSG00000196793	NA	8187		Zinc fingers, C2H2-type	13031	protein-coding gene	gene with protein product		601069			NA	8903737, 8587123	Standard		NM_005674	NA	Approved	MOK2, HOK-2	uc009xmk.3	Q16600	OTTHUMG00000018033	ENST00000306006.6:c.426G>T	10.37:g.44053102C>A	ENSP00000307774:p.Gln142His	NA	Q5T1G9|Q8TAS5	37	CCDS41502.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726442	0.48833	.	.	ENSG00000196793	ENST00000306006;ENST00000374446;ENST00000426961;ENST00000535642;ENST00000339962	T;T;T;T	0.06449	3.3;3.3;3.3;3.3	4.1	-1.44	0.08856	.	.	.	.	.	T	0.04092	0.0114	N	0.22421	0.69	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.40572	-0.9556	9	0.72032	D	0.01	-18.9363	4.2722	0.10792	0.0:0.3819:0.1717:0.4463	.	142	Q16600	ZN239_HUMAN	H	142	ENSP00000307774:Q142H;ENSP00000363569:Q142H;ENSP00000398202:Q142H;ENSP00000443907:Q142H	ENSP00000307774:Q142H	Q	-	3	2	ZNF239	43373108	.	.	0.003000	0.11579	0.652000	0.38707	.	.	-0.263000	0.09378	-0.136000	0.14681	CAG	ZNF239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047710.1		-	ENST00000306006.6	Missense_Mutation	SNP	10 : 44053102 - 44053102 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	64
AHNAK	79026	broad.mit.edu	37	11	62285818	62285818	+	Silent	SNP	G	G	A	rs137898001		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62285818G>A	ENST00000378024.4	-	5	16345	c.16071C>T	c.(16069-16071)aaC>aaT	p.N5357N	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5357					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTGCCCCAACGTTAAGCTTTG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	0,4404		0,0,2202	122	93	103		16071,	-5	0	11	dbSNP_134	103	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous,intron	AHNAK	NM_001620.1,NM_024060.2	,	0,2,6499	AA,AG,GG	NA	0.0233,0.0,0.0154	,	5357/5891,	62285818	2,13000	2202	4299	6501	SO:0001819	synonymous_variant			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942	79026	79026			347	protein-coding gene	gene with protein product	desmoyokin	103390	AHNAK nucleoprotein (desmoyokin)		NA	7987395, 12153988	Standard	NM_024060	NM_024060	NA	Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.16071C>T	11.37:g.62285818G>A		NA		37	CCDS31584.1																																																																																			AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395572.1		-	ENST00000378024.4	Silent	SNP	11 : 62285818 - 62285818 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	499	94
LIG4	3981	broad.mit.edu	37	13	108861083	108861083	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108861083A>G	ENST00000356922.4	-	2	2806	c.2534T>C	c.(2533-2535)cTt>cCt	p.L845P	LIG4_ENST00000405925.1_Missense_Mutation_p.L845P|LIG4_ENST00000442234.1_Missense_Mutation_p.L845P	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	845	BRCT 2.				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ATGAAACCGAAGCTCCAAGGC	0.403		NA						Non-homologous end-joining						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	99	99			NA	NA	13		NA											NA				108861083		2203	4300	6503	SO:0001583	missense			X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	3981	3981	6.5.1.1		6601	protein-coding gene	gene with protein product	polydeoxyribonucleotide synthase [ATP] 4, polynucleotide ligase, sealase, DNA repair enzyme, DNA joinase	601837			NA	7760816	Standard	NM_002312	NM_001098268	NA	Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.2534T>C	13.37:g.108861083A>G	ENSP00000349393:p.Leu845Pro	NA	Q8IY66|Q8TEU5	37	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.214628	0.79352	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	D;D;D	0.81499	-1.5;-1.5;-1.5	5.75	5.75	0.90469	BRCT (4);	0.193178	0.45606	D	0.000356	D	0.89136	0.6629	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.90222	0.4272	10	0.72032	D	0.01	.	15.2891	0.73852	1.0:0.0:0.0:0.0	.	845	P49917	DNLI4_HUMAN	P	845	ENSP00000385955:L845P;ENSP00000402030:L845P;ENSP00000349393:L845P	ENSP00000349393:L845P	L	-	2	0	LIG4	107659084	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.652000	0.91083	2.209000	0.71365	0.462000	0.41574	CTT	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045738.4		-	ENST00000356922.4	Missense_Mutation	SNP	13 : 108861083 - 108861083 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	10
ZNF385D	79750	broad.mit.edu	37	3	21462771	21462771	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:21462771G>A	ENST00000281523.2	-	8	1641	c.1123C>T	c.(1123-1125)Ctc>Ttc	p.L375F		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	375						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GGCCGCAGGAGTGCCGGAGGA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	53	53			NA	NA	3		NA											NA				21462771		2203	4300	6503	SO:0001583	missense			BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789	79750	79750			26191	protein-coding gene	gene with protein product			zinc finger protein 659	ZNF659	NA	12477932	Standard	NM_024697	NM_024697	NA	Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.1123C>T	3.37:g.21462771G>A	ENSP00000281523:p.Leu375Phe	NA		37	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741734	0.49151	.	.	ENSG00000151789	ENST00000281523	T	0.51574	0.7	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.45074	0.1324	L	0.42744	1.35	0.53005	D	0.999964	B	0.28636	0.218	B	0.23150	0.044	T	0.34403	-0.9830	10	0.59425	D	0.04	-29.8816	20.3747	0.98911	0.0:0.0:1.0:0.0	.	375	Q9H6B1	Z385D_HUMAN	F	375	ENSP00000281523:L375F	ENSP00000281523:L375F	L	-	1	0	ZNF385D	21437775	1.000000	0.71417	0.976000	0.42696	0.961000	0.63080	4.681000	0.61663	2.819000	0.97034	0.557000	0.71058	CTC	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252884.1		-	ENST00000281523.2	Missense_Mutation	SNP	3 : 21462771 - 21462771 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	195	27
ABLIM3	22885	broad.mit.edu	37	5	148627370	148627370	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148627370T>G	ENST00000506113.1	+	17	2059	c.1577T>G	c.(1576-1578)aTt>aGt	p.I526S	ABLIM3_ENST00000309868.7_Missense_Mutation_p.I526S|ABLIM3_ENST00000504238.1_Missense_Mutation_p.I415S|ABLIM3_ENST00000517451.1_Missense_Mutation_p.I12S|ABLIM3_ENST00000508983.1_Missense_Mutation_p.I493S|ABLIM3_ENST00000326685.7_Missense_Mutation_p.I431S|RP11-331K21.1_ENST00000512647.2_RNA|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000356541.3_Missense_Mutation_p.I415S|RP11-331K21.1_ENST00000522685.1_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	526					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCGGCTGATTCTGAAGGAA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	48	47			NA	NA	5		NA											NA				148627370		2203	4300	6503	SO:0001583	missense			AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210	22885	22885			29132	protein-coding gene	gene with protein product		611305			NA		Standard	NM_014945	XM_005268392	NA	Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1577T>G	5.37:g.148627370T>G	ENSP00000425394:p.Ile526Ser	NA	A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	37	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.352173	0.82132	.	.	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983;ENST00000517451;ENST00000536903	T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.56558	0.1993	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.89917	1.0;0.987;0.987;0.982	D;D;D;P	0.83275	0.996;0.976;0.974;0.758	T	0.59263	-0.7487	10	0.87932	D	0	.	15.806	0.78513	0.0:0.0:0.0:1.0	.	12;431;415;526	O94929-4;O94929-3;O94929-2;O94929	.;.;.;ABLM3_HUMAN	S	431;415;526;526;415;493;12;11	ENSP00000315841:I431S;ENSP00000348938:I415S;ENSP00000310309:I526S;ENSP00000425394:I526S;ENSP00000421183:I415S;ENSP00000420855:I493S;ENSP00000430150:I12S	ENSP00000310309:I526S	I	+	2	0	ABLIM3	148607563	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.130000	0.77235	2.142000	0.66516	0.459000	0.35465	ATT	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373435.1		+	ENST00000506113.1	Missense_Mutation	SNP	5 : 148627370 - 148627370 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	310	29
ORC2	4999	broad.mit.edu	37	2	201822814	201822814	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201822814C>T	ENST00000234296.2	-	3	282	c.33G>A	c.(31-33)atG>atA	p.M11I	ORC2_ENST00000467605.1_Intron	NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	11					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						GAACCTCCAGCATCTTGTCTT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													180	155	163			NA	NA	2		NA											NA				201822814		2203	4299	6502	SO:0001583	missense				CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942	4999	4999			8488	protein-coding gene	gene with protein product		601182	origin recognition complex, subunit 2 (yeast homolog)-like, origin recognition complex, subunit 2-like (yeast), origin recognition complex, subunit 2 homolog (yeast)	ORC2L	NA	8808289	Standard	NM_006190	NM_006190	NA	Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.33G>A	2.37:g.201822814C>T	ENSP00000234296:p.Met11Ile	NA	Q13204|Q53TX5	37	CCDS2334.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.618154	0.46736	.	.	ENSG00000115942	ENST00000234296;ENST00000410039;ENST00000457595	T;T	0.40476	1.63;1.03	6.01	5.13	0.70059	.	0.448742	0.27008	N	0.021384	T	0.27629	0.0679	N	0.19112	0.55	0.22521	N	0.999026	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.12656	-1.0539	10	0.16420	T	0.52	-2.8989	13.347	0.60580	0.0:0.8421:0.1579:0.0	.	11;11	B4DYU9;Q13416	.;ORC2_HUMAN	I	11	ENSP00000234296:M11I;ENSP00000386390:M11I	ENSP00000234296:M11I	M	-	3	0	ORC2	201531059	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.295000	0.33377	1.533000	0.49186	0.655000	0.94253	ATG	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256191.2		-	ENST00000234296.2	Missense_Mutation	SNP	2 : 201822814 - 201822814 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	624	157
TRIM46	80128	broad.mit.edu	37	1	155148076	155148076	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155148076G>A	ENST00000368382.1	+	2	346	c.209G>A	c.(208-210)cGc>cAc	p.R70H	TRIM46_ENST00000545012.1_Intron|TRIM46_ENST00000334634.4_Missense_Mutation_p.R93H|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000543729.1_Missense_Mutation_p.R100H|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368385.4_Missense_Mutation_p.R93H|TRIM46_ENST00000368383.3_Missense_Mutation_p.R93H|TRIM46_ENST00000392451.2_Missense_Mutation_p.R93H	NM_001256599.1|NM_001256600.1|NM_001256601.1|NM_025058.4	NP_001243528.1|NP_001243529.1|NP_001243530.1|NP_079334.3	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	93						intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGCCTCTCCCGCAGAACTCTC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	0,4354		0,0,2177	33	39	37		278	4.5	1	1		37	1,8505		0,1,4252	no	missense	TRIM46	NM_025058.3	29	0,1,6429	AA,AG,GG	NA	0.0118,0.0,0.0078	probably-damaging	93/760	155148076	1,12859	2177	4253	6430	SO:0001583	missense				CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462	80128	80128		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	19019	protein-coding gene	gene with protein product		600986	tripartite motif-containing 46		NA		Standard	NM_025058	NM_025058	NA	Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000368382.1:c.209G>A	1.37:g.155148076G>A	ENSP00000357366:p.Arg70His	NA	A0AVI6|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	37	CCDS58033.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183414	0.78677	0.0	1.18E-4	ENSG00000163462	ENST00000543729;ENST00000430513;ENST00000368385;ENST00000392451;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T;T;T	0.60548	0.75;0.49;0.68;0.43;0.18;0.23	4.54	4.54	0.55810	Zinc finger, RING-type (1);	0.000000	0.85682	D	0.000000	T	0.68201	0.2975	M	0.70275	2.135	0.80722	D	1	D;D;P;B;D;D	0.89917	0.999;1.0;0.946;0.403;1.0;1.0	D;D;B;B;D;D	0.85130	0.991;0.991;0.347;0.025;0.991;0.997	T	0.69308	-0.5179	10	0.44086	T	0.13	.	15.1629	0.72798	0.0:0.0:1.0:0.0	.	80;93;80;70;93;93	F5H5Z2;Q5VT61;B7Z3S2;B1AVQ4;Q7Z4K8;Q7Z4K8-2	.;.;.;.;TRI46_HUMAN;.	H	100;80;93;93;93;70;93	ENSP00000442719:R100H;ENSP00000357369:R93H;ENSP00000376245:R93H;ENSP00000357367:R93H;ENSP00000357366:R70H;ENSP00000334657:R93H	ENSP00000334657:R93H	R	+	2	0	TRIM46	153414700	1.000000	0.71417	0.988000	0.46212	0.962000	0.63368	5.694000	0.68272	2.227000	0.72691	0.655000	0.94253	CGC	TRIM46-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086729.2		+	ENST00000368382.1	Missense_Mutation	SNP	1 : 155148076 - 155148076 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	684	104
ALDOB	229	broad.mit.edu	37	9	104193076	104193076	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104193076C>T	ENST00000374855.4	-	2	218	c.94G>A	c.(94-96)Gct>Act	p.A32T		NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	32					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TCATCTGCAGCCAGGATCCCC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	96	100			NA	NA	9		NA											NA				104193076		2203	4300	6503	SO:0001583	missense			X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	229	229	4.1.2.13		417	protein-coding gene	gene with protein product		612724			NA		Standard		NM_000035	NA	Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.94G>A	9.37:g.104193076C>T	ENSP00000363988:p.Ala32Thr	NA	Q13741|Q13742|Q5T7D6	37	CCDS6756.1	.	.	.	.	.	.	.	.	.	.	C	33	5.243158	0.95272	.	.	ENSG00000136872	ENST00000374855;ENST00000430164	D	0.93547	-3.24	5.63	5.63	0.86233	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.96911	0.8991	M	0.82433	2.59	0.80722	D	1	D	0.67145	0.996	D	0.74348	0.983	D	0.96813	0.9598	10	0.62326	D	0.03	-18.5194	19.045	0.93016	0.0:1.0:0.0:0.0	.	32	P05062	ALDOB_HUMAN	T	32	ENSP00000363988:A32T	ENSP00000363988:A32T	A	-	1	0	ALDOB	103232897	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.826000	0.97356	0.655000	0.94253	GCT	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053434.2		-	ENST00000374855.4	Missense_Mutation	SNP	9 : 104193076 - 104193076 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	278	49
LPPR4	0	broad.mit.edu	37	1	99771377	99771377	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:99771377G>A	ENST00000370185.3	+	7	1600	c.1103G>A	c.(1102-1104)gGa>gAa	p.G368E	LPPR4_ENST00000370184.1_Missense_Mutation_p.G210E|LPPR4_ENST00000457765.1_Missense_Mutation_p.G310E	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		368							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AGCAGTGATGGAATTGCTCAT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	116	117			NA	NA	1		NA											NA				99771377		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000370185.3:c.1103G>A	1.37:g.99771377G>A	ENSP00000359204:p.Gly368Glu	NA	O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	37	CCDS757.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.584365	0.00872	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.20069	2.68;2.71;2.1	5.62	5.62	0.85841	.	1.058360	0.07212	N	0.859466	T	0.10937	0.0267	N	0.12182	0.205	0.44562	D	0.997521	P;B	0.49783	0.928;0.276	P;B	0.47573	0.55;0.142	T	0.19160	-1.0314	9	.	.	.	-21.9674	15.9536	0.79861	0.0:0.1349:0.8651:0.0	.	310;368	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	E	368;310;368;210	ENSP00000359204:G368E;ENSP00000394913:G310E;ENSP00000359203:G210E	.	G	+	2	0	RP4-788L13.1	99543965	1.000000	0.71417	0.997000	0.53966	0.152000	0.21847	5.988000	0.70579	2.633000	0.89246	0.655000	0.94253	GGA	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029670.2		+	ENST00000370185.3	Missense_Mutation	SNP	1 : 99771377 - 99771377 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	503	49
ZBTB45	84878	broad.mit.edu	37	19	59027866	59027866	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59027866G>A	ENST00000594051.1	-	2	1655	c.1175C>T	c.(1174-1176)cCt>cTt	p.P392L	ZBTB45_ENST00000600990.1_Missense_Mutation_p.P392L|ZBTB45_ENST00000354590.3_Missense_Mutation_p.P392L			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	392	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GGTGCGAGCAGGGGTGCCTGA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(164;1383 2017 5233 27540 46677)							NA				0													38	39	39			NA	NA	19		NA											NA				59027866		2203	4300	6503	SO:0001583	missense			AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574	84878	84878		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	23715	protein-coding gene	gene with protein product			zinc finger protein 499	ZNF499	NA		Standard	NM_032792	NM_032792	NA	Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.1175C>T	19.37:g.59027866G>A	ENSP00000469089:p.Pro392Leu	NA		37	CCDS12984.1	.	.	.	.	.	.	.	.	.	.	g	11.36	1.615762	0.28801	.	.	ENSG00000119574	ENST00000354590	T	0.11712	2.75	3.41	2.31	0.28768	.	0.269932	0.29760	N	0.011269	T	0.07279	0.0184	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.30060	-0.9991	10	0.54805	T	0.06	.	10.4857	0.44719	0.0:0.2004:0.7996:0.0	.	392	Q96K62	ZBT45_HUMAN	L	392	ENSP00000346603:P392L	ENSP00000346603:P392L	P	-	2	0	ZBTB45	63719678	0.827000	0.29292	0.005000	0.12908	0.256000	0.26092	4.923000	0.63412	0.953000	0.37825	0.467000	0.42956	CCT	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000467067.1		-	ENST00000594051.1	Missense_Mutation	SNP	19 : 59027866 - 59027866 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	189	34
ALPI	248	broad.mit.edu	37	2	233321314	233321314	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233321314C>T	ENST00000295463.3	+	3	286	c.209C>T	c.(208-210)gCc>gTc	p.A70V		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	70					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ACGGTGACAGCCACCAGGATC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	39	38			NA	NA	2		NA											NA				233321314		2203	4299	6502	SO:0001583	missense			M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	248	248	3.1.3.1		437	protein-coding gene	gene with protein product		171740			NA	3468508, 3469665	Standard	NM_001631	NM_001631	NA	Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.209C>T	2.37:g.233321314C>T	ENSP00000295463:p.Ala70Val	NA	B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	37	CCDS2492.1	.	.	.	.	.	.	.	.	.	.	c	21.2	4.111299	0.77210	.	.	ENSG00000163295	ENST00000295463	D	0.97772	-4.53	5.7	5.7	0.88788	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.108147	0.64402	D	0.000007	D	0.99184	0.9717	H	0.95745	3.715	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.99177	1.0866	10	0.87932	D	0	.	18.8019	0.92022	0.0:1.0:0.0:0.0	.	70	P09923	PPBI_HUMAN	V	70	ENSP00000295463:A70V	ENSP00000295463:A70V	A	+	2	0	ALPI	233029558	1.000000	0.71417	0.758000	0.31321	0.178000	0.23041	7.441000	0.80485	2.861000	0.98227	0.655000	0.94253	GCC	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257035.2		+	ENST00000295463.3	Missense_Mutation	SNP	2 : 233321314 - 233321314 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	188	33
PCDHA5	56143	broad.mit.edu	37	5	140202462	140202462	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140202462A>G	ENST00000529859.1	+	1	1102	c.1102A>G	c.(1102-1104)Att>Gtt	p.I368V	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.I368V|PCDHA5_ENST00000378126.3_Missense_Mutation_p.I368V	NM_018908.2	NP_061731.1			protocadherin alpha 5	NA										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCACGGTCATTGCTCTGAT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	95	99			NA	NA	5		NA											NA				140202462		2203	4300	6503	SO:0001583	missense			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965	56143	56143		Cadherins / Protocadherins : Clustered	8671	other	complex locus constituent	ortholog of mouse CNR6, KIAA0345-like 9	606311		CNRS6	NA	10380929, 10662547	Standard	NM_018908	NM_018908	NA	Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1102A>G	5.37:g.140202462A>G	ENSP00000436557:p.Ile368Val	NA		37	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.614497	0.00835	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.41758	0.99;0.99;0.99	3.84	3.84	0.44239	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.28067	0.0692	N	0.02357	-0.585	0.24350	N	0.994924	B;B;B	0.27971	0.196;0.163;0.163	P;B;B	0.46208	0.507;0.133;0.21	T	0.40136	-0.9579	9	0.38643	T	0.18	.	4.7341	0.12979	0.7127:0.0:0.2873:0.0	.	368;368;368	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	V	368	ENSP00000433416:I368V;ENSP00000436557:I368V;ENSP00000367366:I368V	ENSP00000367366:I368V	I	+	1	0	PCDHA5	140182646	0.615000	0.27026	0.168000	0.22838	0.075000	0.17131	1.124000	0.31320	1.492000	0.48499	0.460000	0.39030	ATT	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372883.2		+	ENST00000529859.1	Missense_Mutation	SNP	5 : 140202462 - 140202462 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	594	118
KIAA1430	0	broad.mit.edu	37	4	186111392	186111392	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186111392G>A	ENST00000458385.2	-	2	1078	c.959C>T	c.(958-960)tCc>tTc	p.S320F	KIAA1430_ENST00000296775.6_Missense_Mutation_p.S320F|KIAA1430_ENST00000514798.1_Missense_Mutation_p.S320F	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		320										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		CGACTTTGAGGAGACATCAGG	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	74	76			NA	NA	4		NA											NA				186111392		1848	4099	5947	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000458385.2:c.959C>T	4.37:g.186111392G>A	ENSP00000409964:p.Ser320Phe	NA	B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	37	CCDS47168.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.840766	0.00573	.	.	ENSG00000164323	ENST00000458385;ENST00000514798;ENST00000296775	T;T;T	0.42513	1.56;0.97;0.97	4.96	0.873	0.19118	.	0.644381	0.14490	N	0.316429	T	0.21761	0.0524	N	0.22421	0.69	0.09310	N	1	P;B	0.39157	0.662;0.159	B;B	0.33196	0.159;0.024	T	0.12091	-1.0561	10	0.59425	D	0.04	2.7903	3.7265	0.08477	0.1869:0.0:0.477:0.3361	.	320;320	Q9P2B7-2;Q9P2B7	.;K1430_HUMAN	F	320	ENSP00000409964:S320F;ENSP00000423312:S320F;ENSP00000296775:S320F	ENSP00000296775:S320F	S	-	2	0	KIAA1430	186348386	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.391000	0.20784	0.320000	0.23234	0.609000	0.83330	TCC	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360717.2		-	ENST00000458385.2	Missense_Mutation	SNP	4 : 186111392 - 186111392 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	126	35
CLEC2B	9976	broad.mit.edu	37	12	10005919	10005919	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10005919A>G	ENST00000228438.2	-	5	1363	c.430T>C	c.(430-432)Tgc>Cgc	p.C144R	CLEC2B_ENST00000538152.1_Missense_Mutation_p.C75R	NM_005127.2	NP_005118.2	Q92478	CLC2B_HUMAN	C-type lectin domain family 2, member B	144	C-type lectin.					integral to plasma membrane	sugar binding			endometrium(1)|large_intestine(3)|lung(1)	5						CTTTTCCTGCAAATCCATTTT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													177	148	158			NA	NA	12		NA											NA				10005919		2203	4300	6503	SO:0001583	missense			X96719	CCDS8605.1	12p13-p12	2005-02-09	2005-02-09	2005-02-09		ENSG00000110852	9976	9976		C-type lectin domain containing	2053	protein-coding gene	gene with protein product		603242	C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 2 (activation-induced)	CLECSF2	NA	9038101	Standard	NM_005127	NM_005127	NA	Approved	AICL, HP10085	uc001qwn.3	Q92478		ENST00000228438.2:c.430T>C	12.37:g.10005919A>G	ENSP00000228438:p.Cys144Arg	NA	B2R9U1|Q8IZE9|Q9BS74|Q9UQB4	37	CCDS8605.1	.	.	.	.	.	.	.	.	.	.	A	11.50	1.657279	0.29425	.	.	ENSG00000110852	ENST00000228438;ENST00000538152	D;D	0.97688	-4.49;-4.49	2.94	2.94	0.34122	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.47093	D	0.000257	D	0.98861	0.9615	H	0.95884	3.735	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.98563	1.0642	10	0.87932	D	0	.	7.7084	0.28663	1.0:0.0:0.0:0.0	.	144	Q92478	CLC2B_HUMAN	R	144;75	ENSP00000228438:C144R;ENSP00000437946:C75R	ENSP00000228438:C144R	C	-	1	0	CLEC2B	9897186	0.996000	0.38824	0.958000	0.39756	0.154000	0.21943	2.948000	0.49066	1.604000	0.50143	0.528000	0.53228	TGC	CLEC2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399881.1		-	ENST00000228438.2	Missense_Mutation	SNP	12 : 10005919 - 10005919 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	220	42
EYS	346007	broad.mit.edu	37	6	66053985	66053985	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:66053985G>A	ENST00000393380.2	-	10	2082	c.1545C>T	c.(1543-1545)aaC>aaT	p.N515N	EYS_ENST00000342421.5_Silent_p.N515N|EYS_ENST00000370618.3_Silent_p.N515N|EYS_ENST00000370616.2_Silent_p.N515N|EYS_ENST00000503581.1_Silent_p.N515N|EYS_ENST00000370621.3_Silent_p.N515N	NM_001142801.1	NP_001136273.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	515					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CTTCAGGATCGTTCACATAGG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	98	98			NA	NA	6		NA											NA				66053985		2203	4300	6503	SO:0001819	synonymous_variant				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107	346007	346007			21555	protein-coding gene	gene with protein product		612424	chromosome 6 open reading frame 180, EGF-like-domain, multiple 11, retinitis pigmentosa 25 (autosomal recessive), EGF-like-domain, multiple 10, chromosome 6 open reading frame 178, chromosome 6 open reading frame 179	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179	NA	18836446, 18976725	Standard	XM_294050	NM_001142800	NA	Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000393380.2:c.1545C>T	6.37:g.66053985G>A		NA	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	37	CCDS47446.1																																																																																			EYS-006	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041109.2		-	ENST00000393380.2	Silent	SNP	6 : 66053985 - 66053985 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	64
PRPF8	10594	broad.mit.edu	37	17	1563232	1563232	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1563232G>A	ENST00000572621.1	-	30	5114	c.4849C>T	c.(4849-4851)Cga>Tga	p.R1617*	PRPF8_ENST00000304992.6_Nonsense_Mutation_p.R1617*			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1617						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TATGACTTTCGGGGATGGATT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	146	157			NA	NA	17		NA											NA				1563232		2203	4300	6503	SO:0001587	stop_gained			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231	10594	10594			17340	protein-coding gene	gene with protein product		607300	PRP8 pre-mRNA processing factor 8 homolog (yeast), PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)	RP13	NA	11468273, 10411133	Standard		NM_006445	NA	Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.4849C>T	17.37:g.1563232G>A	ENSP00000460348:p.Arg1617*	NA	O14547|O75965	37	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	g	45	12.059471	0.99632	.	.	ENSG00000174231	ENST00000304992;ENST00000540177	.	.	.	6.06	3.86	0.44501	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5008	15.7685	0.78146	0.0:0.0:0.6624:0.3376	.	.	.	.	X	1617;144	.	ENSP00000304350:R1617X	R	-	1	2	PRPF8	1509982	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.556000	0.45862	1.533000	0.49186	0.655000	0.94253	CGA	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438412.2		-	ENST00000572621.1	Nonsense_Mutation	SNP	17 : 1563232 - 1563232 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	484	87
CSMD3	114788	broad.mit.edu	37	8	113504912	113504912	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113504912G>A	ENST00000297405.5	-	31	5328	c.5084C>T	c.(5083-5085)gCa>gTa	p.A1695V	CSMD3_ENST00000343508.3_Splice_Site_p.A1655V|CSMD3_ENST00000352409.3_Splice_Site_p.A1695V|CSMD3_ENST00000455883.2_Splice_Site_p.A1591V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1695	CUB 9.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCGCAGTTTTGCTGTAAAACA	0.393		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	97	99			NA	NA	8		NA											NA				113504912		2203	4300	6503	SO:0001630	splice_region_variant			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796	114788	114788			19291	protein-coding gene	gene with protein product		608399			NA		Standard	NM_052900	NM_052900	NA	Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5084-1C>T	8.37:g.113504912G>A		NA	Q96PZ3	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650331	0.87958	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	4.9	4.9	0.64082	CUB (4);	0.000000	0.64402	D	0.000001	T	0.41050	0.1142	L	0.59436	1.845	0.36825	D	0.886589	D;D;P	0.62365	0.991;0.985;0.935	D;P;P	0.63703	0.917;0.828;0.647	T	0.23013	-1.0200	10	0.27785	T	0.31	.	18.6241	0.91331	0.0:0.0:1.0:0.0	.	1591;1695;1655	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	1655;1695;1035;1591;1695	ENSP00000345799:A1655V;ENSP00000297405:A1695V;ENSP00000341558:A1035V;ENSP00000412263:A1591V;ENSP00000343124:A1695V	ENSP00000297405:A1695V	A	-	2	0	CSMD3	113574088	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.315000	0.59172	2.704000	0.92352	0.585000	0.79938	GCA	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347141.1	Missense_Mutation	-	ENST00000297405.5	Splice_Site	SNP	8 : 113504912 - 113504912 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	69
LRRN2	10446	broad.mit.edu	37	1	204587617	204587617	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204587617G>T	ENST00000367175.1	-	1	3716	c.1504C>A	c.(1504-1506)Ctg>Atg	p.L502M	LRRN2_ENST00000367176.3_Missense_Mutation_p.L502M|LRRN2_ENST00000367177.3_Missense_Mutation_p.L502M			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	502	Ig-like C2-type.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GCCCCCACCAGGTTCTGGGCC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	69	69			NA	NA	1		NA											NA				204587617		2203	4300	6503	SO:0001583	missense			AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382	10446	10446		Immunoglobulin superfamily / I-set domain containing	16914	protein-coding gene	gene with protein product	leucine rich and ankyrin repeats 1, fibronectin type III, immunoglobulin and leucine rich repeat domain 7	605492	leucine rich repeat neuronal 5	LRRN5	NA	9662332	Standard	NM_006338	NM_006338	NA	Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.1504C>A	1.37:g.204587617G>T	ENSP00000356143:p.Leu502Met	NA	B2R624|Q5T0Y0|Q6UXM0|Q8N182	37	CCDS1448.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690355	0.29962	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.67171	-0.25;-0.25;-0.25	5.37	2.4	0.29515	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.32120	N	0.006559	T	0.68559	0.3014	L	0.31752	0.955	0.35431	D	0.794037	D	0.89917	1.0	D	0.87578	0.998	T	0.72197	-0.4363	10	0.44086	T	0.13	.	9.3331	0.38034	0.3601:0.0:0.6399:0.0	.	502	O75325	LRRN2_HUMAN	M	502	ENSP00000356144:L502M;ENSP00000356145:L502M;ENSP00000356143:L502M	ENSP00000356143:L502M	L	-	1	2	LRRN2	202854240	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	0.626000	0.24492	0.615000	0.30124	0.591000	0.81541	CTG	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089894.1		-	ENST00000367175.1	Missense_Mutation	SNP	1 : 204587617 - 204587617 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	81
PAX9	5083	broad.mit.edu	37	14	37132272	37132272	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:37132272C>T	ENST00000361487.6	+	2	400	c.175C>T	c.(175-177)Cga>Tga	p.R59*	PAX9_ENST00000402703.2_Nonsense_Mutation_p.R59*|PAX9_ENST00000554201.1_5'UTR			P55771	PAX9_HUMAN	paired box 9	59	Paired.				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		GATCCTGGCGCGATACAACGA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM077220	PAX9	M							45	45	45			NA	NA	14		NA											NA				37132272		2203	4300	6503	SO:0001587	stop_gained			AJ238381	CCDS9662.1	14q13.3	2007-07-12	2007-07-12		ENSG00000198807	ENSG00000198807	5083	5083		Paired boxes	8623	protein-coding gene	gene with protein product		167416	paired box gene 9		NA	7981748	Standard		NM_006194	NA	Approved		uc001wty.4	P55771	OTTHUMG00000140251	ENST00000361487.6:c.175C>T	14.37:g.37132272C>T	ENSP00000355245:p.Arg59*	NA	Q99582|Q9UQR4	37	CCDS9662.1	.	.	.	.	.	.	.	.	.	.	C	43	9.951174	0.99303	.	.	ENSG00000198807	ENST00000402703;ENST00000361487	.	.	.	5.11	5.11	0.69529	.	0.054030	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.5219	0.90956	0.0:1.0:0.0:0.0	.	.	.	.	X	59	.	ENSP00000355245:R59X	R	+	1	2	PAX9	36202023	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.876000	0.63079	2.383000	0.81215	0.561000	0.74099	CGA	PAX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276733.2		+	ENST00000361487.6	Nonsense_Mutation	SNP	14 : 37132272 - 37132272 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	42
AMZ1	155185	broad.mit.edu	37	7	2752047	2752047	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2752047G>A	ENST00000407112.1	+	6	1175	c.862G>A	c.(862-864)Gcc>Acc	p.A288T	AMZ1_ENST00000312371.4_Silent_p.P344P|AMZ1_ENST00000489665.1_Intron			Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	0							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		AGGACACCCCGCCTGCCAGCG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	26	24			NA	NA	7		NA											NA				2752047		2202	4298	6500	SO:0001583	missense			AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945	155185	155185			22231	protein-coding gene	gene with protein product	archaemetzincin-1	615168			NA	15972818	Standard	NM_133463	NM_133463	NA	Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000407112.1:c.862G>A	7.37:g.2752047G>A	ENSP00000386020:p.Ala288Thr	NA	Q8TF51	37		.	.	.	.	.	.	.	.	.	.	g	4.290	0.053063	0.08291	.	.	ENSG00000174945	ENST00000407112	T	0.37058	1.22	4.66	-2.71	0.05986	.	.	.	.	.	T	0.20333	0.0489	.	.	.	0.09310	N	1	B	0.15141	0.012	B	0.14578	0.011	T	0.29518	-1.0009	8	0.72032	D	0.01	-5.1853	1.1093	0.01700	0.3229:0.1307:0.3488:0.1977	.	288	B3KRS0	.	T	288	ENSP00000386020:A288T	ENSP00000386020:A288T	A	+	1	0	AMZ1	2718573	0.001000	0.12720	0.001000	0.08648	0.020000	0.10135	-0.282000	0.08445	-0.480000	0.06803	-0.355000	0.07637	GCC	AMZ1-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000325245.1		+	ENST00000407112.1	Missense_Mutation	SNP	7 : 2752047 - 2752047 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	164	18
MELK	9833	broad.mit.edu	37	9	36589623	36589623	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36589623G>A	ENST00000298048.2	+	4	419	c.235G>A	c.(235-237)Gcc>Acc	p.A79T	MELK_ENST00000538311.1_5'UTR|MELK_ENST00000541717.1_Missense_Mutation_p.A79T|MELK_ENST00000536329.1_Intron|MELK_ENST00000543751.1_Missense_Mutation_p.A47T|MELK_ENST00000536860.1_Missense_Mutation_p.A79T|MELK_ENST00000545008.1_Missense_Mutation_p.A79T|MELK_ENST00000487398.1_3'UTR|MELK_ENST00000536987.1_5'UTR	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	79	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			GCTAGAGACAGCCAACAAAAT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(82;980 1317 7225 14391 18624)							NA				0													162	142	149			NA	NA	9		NA											NA				36589623		2203	4300	6503	SO:0001583	missense			D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304	9833	9833			16870	protein-coding gene	gene with protein product		607025			NA	8724849, 9136115	Standard	NM_014791	NM_001256689	NA	Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.235G>A	9.37:g.36589623G>A	ENSP00000298048:p.Ala79Thr	NA	B1AMQ6|D3DRP8|Q7L3C3	37	CCDS6606.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.634630	0.29068	.	.	ENSG00000165304	ENST00000298048;ENST00000545008;ENST00000536860;ENST00000541717;ENST00000543751	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	5.21	1.06	0.20224	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.606548	0.18547	N	0.138023	T	0.10208	0.0250	N	0.10837	0.055	0.49582	D	0.999807	B;B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.10450	0.001;0.005;0.001;0.001;0.001;0.002	T	0.18493	-1.0335	10	0.45353	T	0.12	1.4915	0.5174	0.00605	0.2484:0.2733:0.2663:0.212	.	47;79;79;79;47;79	B7Z1G6;F5H2R4;F5H0Y0;F5H689;A6P3A7;Q14680	.;.;.;.;.;MELK_HUMAN	T	79;79;79;79;47	ENSP00000298048:A79T;ENSP00000445452:A79T;ENSP00000439792:A79T;ENSP00000437804:A79T;ENSP00000441596:A47T	ENSP00000298048:A79T	A	+	1	0	MELK	36579623	0.482000	0.25948	0.999000	0.59377	0.994000	0.84299	0.017000	0.13399	0.213000	0.20722	0.655000	0.94253	GCC	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052428.3		+	ENST00000298048.2	Missense_Mutation	SNP	9 : 36589623 - 36589623 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	487	24
FAM219A	203259	broad.mit.edu	37	9	34402709	34402709	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34402709C>T	ENST00000379089.1	-	3	545	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	FAM219A_ENST00000297620.4_Missense_Mutation_p.R69Q|FAM219A_ENST00000379081.1_Missense_Mutation_p.R57Q|FAM219A_ENST00000379084.1_Missense_Mutation_p.R68Q|FAM219A_ENST00000379080.1_Missense_Mutation_p.R74Q|FAM219A_ENST00000379087.1_Missense_Mutation_p.R68Q|FAM219A_ENST00000379078.1_Missense_Mutation_p.R85Q|FAM219A_ENST00000445726.1_Missense_Mutation_p.R86Q			Q8IW50	CI025_HUMAN	family with sequence similarity 219, member A	86								p.R69Q(1)			NA						CTACCTTGTTCGGGCCATGAC	0.622		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)											180	126	144			NA	NA	9		NA											NA				34402709		2203	4300	6503	SO:0001583	missense			AK096350	CCDS6556.1, CCDS55304.1	9p11.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164970	ENSG00000164970	203259	203259			19920	protein-coding gene	gene with protein product			chromosome 9 open reading frame 25	C9orf25	NA	9110174, 8619474	Standard	NM_001184940	NM_147202	NA	Approved	bA573M23.5, FLJ39031	uc011lok.2	Q8IW50	OTTHUMG00000019822	ENST00000379089.1:c.254G>A	9.37:g.34402709C>T	ENSP00000368382:p.Arg85Gln	NA	A2A364|B4DFE1|B4DSR8|Q5T590|Q5T591|Q5T592|Q5T594|Q5T595|Q8TAZ8	37		.	.	.	.	.	.	.	.	.	.	C	34	5.397987	0.96030	.	.	ENSG00000164970	ENST00000379089;ENST00000379087;ENST00000379084;ENST00000379081;ENST00000379080;ENST00000445726;ENST00000297620;ENST00000422409;ENST00000379078	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.79488	0.4454	M	0.75447	2.3	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.998	D;D;D;D;D	0.83275	0.995;0.99;0.996;0.99;0.979	T	0.81302	-0.0994	9	0.59425	D	0.04	-6.0991	17.6693	0.88212	0.0:1.0:0.0:0.0	.	75;86;58;58;69	Q8IW50-4;Q8IW50;Q8IW50-3;Q8IW50-2;Q8IW50-6	.;CI025_HUMAN;.;.;.	Q	85;68;68;57;74;86;69;85;85	.	ENSP00000297620:R69Q	R	-	2	0	C9orf25	34392709	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.226000	0.78060	2.415000	0.81967	0.561000	0.74099	CGA	FAM219A-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000052179.1		-	ENST00000379089.1	Missense_Mutation	SNP	9 : 34402709 - 34402709 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	351	61
PRRT3	285368	broad.mit.edu	37	3	9991052	9991052	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9991052G>A	ENST00000412055.1	-	2	877	c.748C>T	c.(748-750)Cct>Tct	p.P250S	PRRT3_ENST00000411976.2_Missense_Mutation_p.P250S|PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	250	Pro-rich.					integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						CCAACATCAGGGGCTGCTGGA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	SER/PRO	0,4300		0,0,2150	44	52	49		748	0.7	0	3		49	1,8559		0,1,4279	no	missense	PRRT3	NM_207351.3	74	0,1,6429	AA,AG,GG	NA	0.0117,0.0,0.0078	benign	250/982	9991052	1,12859	2150	4280	6430	SO:0001583	missense			AK090993	CCDS43049.1	3p25.3	2011-10-10			ENSG00000163704	ENSG00000163704	285368	285368		Proline-rich transmembrane proteins	26591	protein-coding gene	gene with protein product					NA		Standard	NM_207351	NM_207351	NA	Approved	FLJ33674	uc003bul.2	Q5FWE3	OTTHUMG00000155285	ENST00000412055.1:c.748C>T	3.37:g.9991052G>A	ENSP00000392511:p.Pro250Ser	NA	Q49AD0|Q6UXY6|Q8NBC9	37	CCDS43049.1	.	.	.	.	.	.	.	.	.	.	G	0.466	-0.886714	0.02511	0.0	1.17E-4	ENSG00000163704	ENST00000412055;ENST00000411976	T;T	0.21734	2.35;1.99	3.52	0.734	0.18294	.	0.471138	0.18199	N	0.148572	T	0.10380	0.0254	N	0.16656	0.425	0.09310	N	1	B;B	0.25563	0.011;0.129	B;B	0.20767	0.018;0.031	T	0.32745	-0.9895	9	.	.	.	-0.9377	8.1237	0.30986	0.3086:0.0:0.6914:0.0	.	250;250	Q5FWE3-3;Q5FWE3	.;PRRT3_HUMAN	S	250	ENSP00000392511:P250S;ENSP00000404512:P250S	.	P	-	1	0	PRRT3	9966052	0.739000	0.28196	0.028000	0.17463	0.001000	0.01503	0.645000	0.24782	-0.071000	0.12886	-0.813000	0.03139	CCT	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339322.1		-	ENST00000412055.1	Missense_Mutation	SNP	3 : 9991052 - 9991052 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	417	74
ZCCHC6	79670	broad.mit.edu	37	9	88938254	88938254	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:88938254G>A	ENST00000277141.6	-	14	2702	c.278C>T	c.(277-279)gCc>gTc	p.A93V	ZCCHC6_ENST00000375961.2_Missense_Mutation_p.A804V|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.A681V|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.A804V			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	804					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						ATCTAAAGTGGCAAGTCCCTC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	141	144			NA	NA	9		NA											NA				88938254		2203	4300	6503	SO:0001583	missense			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223	79670	79670		Zinc fingers, CCHC domain containing	25817	protein-coding gene	gene with protein product	TUTase7				NA	11214970	Standard	NM_024617	NM_001185059	NA	Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000277141.6:c.278C>T	9.37:g.88938254G>A	ENSP00000277141:p.Ala93Val	NA	Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	37		.	.	.	.	.	.	.	.	.	.	G	9.986	1.229520	0.22542	.	.	ENSG00000083223	ENST00000277141;ENST00000375960;ENST00000375961;ENST00000375963	T;T;T;T	0.54866	0.55;0.99;0.98;0.98	5.29	2.23	0.28157	.	1.199960	0.05745	N	0.602137	T	0.36880	0.0983	N	0.24115	0.695	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.21861	-1.0233	10	0.30854	T	0.27	-4.5993	4.6312	0.12502	0.4745:0.2327:0.2929:0.0	.	681;804	Q5VYS8-4;Q5VYS8	.;TUT7_HUMAN	V	93;681;804;804	ENSP00000277141:A93V;ENSP00000365127:A681V;ENSP00000365128:A804V;ENSP00000365130:A804V	ENSP00000277141:A93V	A	-	2	0	ZCCHC6	88128074	0.219000	0.23619	0.002000	0.10522	0.252000	0.25951	0.778000	0.26732	0.324000	0.23333	0.585000	0.79938	GCC	ZCCHC6-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000052920.1		-	ENST00000277141.6	Missense_Mutation	SNP	9 : 88938254 - 88938254 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	797	150
C9orf50	375759	broad.mit.edu	37	9	132375527	132375527	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132375527G>A	ENST00000372478.4	-	6	1248	c.1047C>T	c.(1045-1047)tcC>tcT	p.S349S	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	349										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				TCTTCTGGGTGGACCTGGGGG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	38	39			NA	NA	9		NA											NA				132375527		2201	4294	6495	SO:0001819	synonymous_variant			AK093122	CCDS35159.1	9q34.2	2012-03-15			ENSG00000179058	ENSG00000179058	375759	375759			23677	protein-coding gene	gene with protein product					NA		Standard	NM_199350	NM_199350	NA	Approved	FLJ35803	uc004byc.4	Q5SZB4	OTTHUMG00000020786	ENST00000372478.4:c.1047C>T	9.37:g.132375527G>A		NA	Q2M1I2|Q8NA65	37	CCDS35159.1																																																																																			C9orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054593.1		-	ENST00000372478.4	Silent	SNP	9 : 132375527 - 132375527 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	61
NELFE	7936	broad.mit.edu	37	6	31922863	31922863	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31922863C>T	ENST00000375429.3	-	6	603	c.377G>A	c.(376-378)cGt>cAt	p.R126H	NELFE_ENST00000375425.5_Missense_Mutation_p.R133H|NELFE_ENST00000444811.2_Missense_Mutation_p.R126H	NM_002904.5	NP_002895.3			negative elongation factor complex member E	NA											NA						CCTCTGGGGACGTCTGGATGA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	100	97			NA	NA	6		NA											NA				31922863		1511	2709	4220	SO:0001583	missense			M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356	7936	7936		RNA binding motif (RRM) containing	13974	protein-coding gene	gene with protein product		154040	RD RNA-binding protein, RD RNA binding protein	RDBP	NA		Standard		XM_006715205	NA	Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.377G>A	6.37:g.31922863C>T	ENSP00000364578:p.Arg126His	NA		37	CCDS4730.1	.	.	.	.	.	.	.	.	.	.	c	19.40	3.819864	0.71028	.	.	ENSG00000204356	ENST00000375429;ENST00000375425;ENST00000444811;ENST00000441998;ENST00000454913;ENST00000436289;ENST00000426722	T;T;T;T;T;T	0.42131	1.47;1.47;1.47;0.98;1.47;0.98	5.79	4.93	0.64822	.	0.061417	0.64402	N	0.000010	T	0.40595	0.1123	L	0.32530	0.975	0.40364	D	0.979274	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	P;D;D;P	0.69654	0.893;0.965;0.948;0.893	T	0.36407	-0.9749	10	0.42905	T	0.14	-3.5668	14.0431	0.64689	0.0:0.9268:0.0:0.0732	.	126;126;126;126	B4DUN1;A2ABK1;E9PCL7;P18615	.;.;.;NELFE_HUMAN	H	126;133;126;126;126;126;126	ENSP00000364578:R126H;ENSP00000364574:R133H;ENSP00000388400:R126H;ENSP00000397914:R126H;ENSP00000409389:R126H;ENSP00000414029:R126H	ENSP00000364574:R133H	R	-	2	0	RDBP	32030842	1.000000	0.71417	0.999000	0.59377	0.773000	0.43773	4.743000	0.62110	1.478000	0.48253	-0.119000	0.15052	CGT	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076047.4		-	ENST00000375429.3	Missense_Mutation	SNP	6 : 31922863 - 31922863 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	441	66
SFXN1	94081	broad.mit.edu	37	5	174940564	174940564	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174940564C>T	ENST00000321442.5	+	7	949	c.695C>T	c.(694-696)tCc>tTc	p.S232F		NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	232					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GTTGTCGTGTCCAGGATTCTC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	92	96			NA	NA	5		NA											NA				174940564		2203	4300	6503	SO:0001583	missense			AF327346	CCDS4394.1	5q35.3	2008-02-05			ENSG00000164466	ENSG00000164466	94081	94081		Sideroflexins	16085	protein-coding gene	gene with protein product		615569			NA		Standard	NM_022754	NM_022754	NA	Approved	FLJ12876	uc003mda.2	Q9H9B4	OTTHUMG00000130555	ENST00000321442.5:c.695C>T	5.37:g.174940564C>T	ENSP00000316905:p.Ser232Phe	NA	B3KPW3|D3DQN2|Q9HA53	37	CCDS4394.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.638720	0.67130	.	.	ENSG00000164466	ENST00000321442	T	0.45668	0.89	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.73737	0.3625	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.82045	-0.0652	10	0.87932	D	0	-34.1264	17.5333	0.87820	0.0:1.0:0.0:0.0	.	232	Q9H9B4	SFXN1_HUMAN	F	232	ENSP00000316905:S232F	ENSP00000316905:S232F	S	+	2	0	SFXN1	174873170	1.000000	0.71417	0.986000	0.45419	0.178000	0.23041	7.572000	0.82409	2.434000	0.82447	0.462000	0.41574	TCC	SFXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252980.2		+	ENST00000321442.5	Missense_Mutation	SNP	5 : 174940564 - 174940564 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	364	56
HECTD3	79654	broad.mit.edu	37	1	45470286	45470286	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45470286C>A	ENST00000372172.4	-	16	2199	c.2128G>T	c.(2128-2130)Gag>Tag	p.E710*	HECTD3_ENST00000372168.3_Nonsense_Mutation_p.E320*|HECTD3_ENST00000486132.1_5'UTR	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	710	HECT.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					TCCTTGCTCTCCTCTAGCCGT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	132	131			NA	NA	1		NA											NA				45470286		2073	4210	6283	SO:0001587	stop_gained			BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107	79654	79654			26117	protein-coding gene	gene with protein product			HECT domain containing 3		NA	12477932	Standard	NM_024602	NM_024602	NA	Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.2128G>T	1.37:g.45470286C>A	ENSP00000361245:p.Glu710*	NA	B3KPV7|B3KRH4|Q5T448|Q9H783	37	CCDS41318.1	.	.	.	.	.	.	.	.	.	.	.	39	7.810838	0.98501	.	.	ENSG00000126107	ENST00000372172;ENST00000372168	.	.	.	5.28	5.28	0.74379	.	0.046750	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	19.0867	0.93206	0.0:1.0:0.0:0.0	.	.	.	.	X	710;320	.	ENSP00000361241:E320X	E	-	1	0	HECTD3	45242873	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.316000	0.79007	2.735000	0.93741	0.549000	0.68633	GAG	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000023734.1		-	ENST00000372172.4	Nonsense_Mutation	SNP	1 : 45470286 - 45470286 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	476	31
TBX3	6926	broad.mit.edu	37	12	115120759	115120759	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:115120759G>A	ENST00000349155.2	-	1	1210	c.247C>T	c.(247-249)Ccc>Tcc	p.P83S	TBX3_ENST00000257566.3_Missense_Mutation_p.P83S	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	83					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TGCGCCTGGGGCCCCAGGGAG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	30	28			NA	NA	12		NA											NA				115120759		2201	4298	6499	SO:0001583	missense			BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111	6926	6926		T-boxes	11602	protein-coding gene	gene with protein product		601621	ulnar mammary syndrome	UMS	NA	8988164	Standard	NM_016569, NM_005996	NM_005996	NA	Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000349155.2:c.247C>T	12.37:g.115120759G>A	ENSP00000257567:p.Pro83Ser	NA	Q8TB20|Q9UKF8	37	CCDS9175.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997824	0.35226	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.87103	-2.21;-2.21	5.17	5.17	0.71159	.	0.140152	0.64402	D	0.000004	T	0.77363	0.4119	N	0.12182	0.205	0.41046	D	0.985269	B;B;B	0.25719	0.003;0.132;0.018	B;B;B	0.35278	0.002;0.199;0.014	T	0.71461	-0.4586	10	0.07482	T	0.82	.	14.416	0.67151	0.0:0.0:0.8519:0.1481	.	83;83;83	B4E3A6;O15119-2;O15119	.;.;TBX3_HUMAN	S	83	ENSP00000257567:P83S;ENSP00000257566:P83S	ENSP00000257566:P83S	P	-	1	0	TBX3	113605142	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.658000	0.83755	2.419000	0.82065	0.655000	0.94253	CCC	TBX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404945.1		-	ENST00000349155.2	Missense_Mutation	SNP	12 : 115120759 - 115120759 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	321	71
ARHGEF15	22899	broad.mit.edu	37	17	8215524	8215524	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8215524C>A	ENST00000361926.3	+	2	277	c.167C>A	c.(166-168)cCa>cAa	p.P56Q	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P56Q	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	56	Pro-rich.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GCACCAACCCCAATGTGCACC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	102	101			NA	NA	17		NA											NA				8215524		2203	4300	6503	SO:0001583	missense			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844	22899	22899		Rho guanine nucleotide exchange factors	15590	protein-coding gene	gene with protein product	Rho guanine exchange factor (GEF) 15	608504			NA	10048485	Standard	NM_173728	NM_173728	NA	Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.167C>A	17.37:g.8215524C>A	ENSP00000355026:p.Pro56Gln	NA	A8K6G1|Q8N449|Q9H8B4	37	CCDS11139.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.850|5.850	0.341069|0.341069	0.11069|0.11069	.|.	.|.	ENSG00000198844|ENSG00000198844	ENST00000361926;ENST00000421050|ENST00000455564	T;T|.	0.72051|.	-0.62;-0.62|.	5.14|5.14	0.796|0.796	0.18648|0.18648	.|.	0.685542|.	0.12656|.	N|.	0.450016|.	T|T	0.25005|0.25005	0.0607|0.0607	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	B;B|.	0.13145|.	0.007;0.007|.	B;B|.	0.09377|.	0.002;0.004|.	T|T	0.23940|0.23940	-1.0174|-1.0174	10|6	0.66056|0.52906	D|T	0.02|0.07	-0.5385|-0.5385	3.993|3.993	0.09545|0.09545	0.1636:0.5705:0.0:0.2659|0.1636:0.5705:0.0:0.2659	.|.	56;56|.	D3DTR7;O94989|.	.;ARHGF_HUMAN|.	Q|K	56|18	ENSP00000355026:P56Q;ENSP00000412505:P56Q|.	ENSP00000355026:P56Q|ENSP00000413324:Q18K	P|Q	+|+	2|1	0|0	ARHGEF15|ARHGEF15	8156249|8156249	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.798000|0.798000	0.45092|0.45092	0.024000|0.024000	0.13555|0.13555	0.056000|0.056000	0.16144|0.16144	-0.145000|-0.145000	0.13849|0.13849	CCA|CAA	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226993.2		+	ENST00000361926.3	Missense_Mutation	SNP	17 : 8215524 - 8215524 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	770	147
C2orf44	80304	broad.mit.edu	37	2	24261218	24261218	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24261218C>A	ENST00000406895.3	-	2	1212	c.1147G>T	c.(1147-1149)Gag>Tag	p.E383*	C2orf44_ENST00000295148.4_Nonsense_Mutation_p.E383*	NM_001142319.1	NP_001135791.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	383							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAGTGTTCTCTAATCGAATT	0.373		NA	T	ALK	NSCLC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		2	2p23.3	80304	chromosome 2 open reading frame 44		E	0													82	87	85			NA	NA	2		NA											NA				24261218		2203	4300	6503	SO:0001587	stop_gained			AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026	80304	80304			26157	protein-coding gene	gene with protein product					NA	22327622	Standard	NM_025203	NM_025203	NA	Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000406895.3:c.1147G>T	2.37:g.24261218C>A	ENSP00000385816:p.Glu383*	NA	D6W532|Q8IYK0|Q9HBP5	37	CCDS46229.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.728379	0.89390	.	.	ENSG00000163026	ENST00000295148;ENST00000406895	.	.	.	5.38	5.38	0.77491	.	0.101360	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-23.6847	19.5062	0.95116	0.0:1.0:0.0:0.0	.	.	.	.	X	383	.	ENSP00000295148:E383X	E	-	1	0	C2orf44	24114722	1.000000	0.71417	0.882000	0.34594	0.688000	0.40055	4.782000	0.62396	2.701000	0.92244	0.655000	0.94253	GAG	C2orf44-002	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324347.2		-	ENST00000406895.3	Nonsense_Mutation	SNP	2 : 24261218 - 24261218 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	763	136
SCUBE1	80274	broad.mit.edu	37	22	43687117	43687117	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43687117T>G	ENST00000360835.4	-	4	545	c.419A>C	c.(418-420)gAg>gCg	p.E140A	SCUBE1_ENST00000290460.7_Missense_Mutation_p.E140A	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	NA	EGF-like 3; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GCACTGACACTCGTAGCTGCC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	66	81			NA	NA	22		NA											NA				43687117		2203	4300	6503	SO:0001583	missense				CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307	80274	80274			13441	protein-coding gene	gene with protein product		611746			NA	11087664	Standard	NM_173050	NM_173050	NA	Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.419A>C	22.37:g.43687117T>G	ENSP00000354080:p.Glu140Ala	NA	Q5R336	37	CCDS14048.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.637175	0.87760	.	.	ENSG00000159307	ENST00000360835;ENST00000434132;ENST00000290460	D;D	0.96522	-4.04;-4.04	4.97	4.97	0.65823	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.95118	0.8418	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.975;0.999	D	0.92922	0.6356	10	0.13470	T	0.59	.	14.8172	0.70045	0.0:0.0:0.0:1.0	.	140;140	B1AH90;Q8IWY4	.;SCUB1_HUMAN	A	140	ENSP00000354080:E140A;ENSP00000290460:E140A	ENSP00000290460:E140A	E	-	2	0	SCUBE1	42017061	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.686000	0.84128	2.077000	0.62373	0.533000	0.62120	GAG	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319582.3		-	ENST00000360835.4	Missense_Mutation	SNP	22 : 43687117 - 43687117 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	156	36
SERTAD3	29946	broad.mit.edu	37	19	40947463	40947463	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40947463G>T	ENST00000322354.3	-	2	1021	c.525C>A	c.(523-525)ttC>ttA	p.F175L	SERTAD3_ENST00000392028.4_Missense_Mutation_p.F175L	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	SERTA domain containing 3	175					negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			kidney(1)|large_intestine(4)|lung(2)	7			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGGGGCACAGAAGAGGTTGT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	97	94			NA	NA	19		NA											NA				40947463		2203	4300	6503	SO:0001583	missense			AF192529	CCDS12558.1	19q13.2	2008-02-05				ENSG00000167565	29946	29946			17931	protein-coding gene	gene with protein product	RPA-binding trans-activator	612125			NA	10982866, 11331592	Standard	NM_013368	NM_013368	NA	Approved	RBT1	uc002onv.4	Q9UJW9		ENST00000322354.3:c.525C>A	19.37:g.40947463G>T	ENSP00000325414:p.Phe175Leu	NA	B3KQB3|Q96CQ2	37	CCDS12558.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533168	0.45073	.	.	ENSG00000167565	ENST00000322354;ENST00000392028	.	.	.	6.0	3.9	0.45041	.	0.172395	0.39341	N	0.001382	T	0.28797	0.0714	N	0.08118	0	0.34746	D	0.731295	B	0.12013	0.005	B	0.08055	0.003	T	0.24154	-1.0168	9	0.22706	T	0.39	-14.1294	9.171	0.37081	0.1658:0.0:0.8342:0.0	.	175	Q9UJW9	SRTD3_HUMAN	L	175	.	ENSP00000325414:F175L	F	-	3	2	SERTAD3	45639303	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	3.376000	0.52417	0.885000	0.36088	0.655000	0.94253	TTC	SERTAD3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462573.1		-	ENST00000322354.3	Missense_Mutation	SNP	19 : 40947463 - 40947463 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	615	99
PRUNE2	158471	broad.mit.edu	37	9	79438601	79438601	+	Translation_Start_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79438601G>T	ENST00000376718.3	-	6	826	c.703C>A	c.(703-705)Ctg>Atg	p.L235M	PRUNE2_ENST00000376713.3_Missense_Mutation_p.L235M|PRUNE2_ENST00000428286.1_De_novo_Start_InFrame	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	235					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CCATCTGACAGCTCCTTTAGA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	123	131			NA	NA	9		NA											NA				79438601		2203	4300	6503	SO:0001583	missense			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772	158471	158471			25209	protein-coding gene	gene with protein product	olfaxin	610691	chromosome 9 open reading frame 65, KIAA0367	C9orf65, KIAA0367	NA	16288218	Standard	NM_138818	NM_015225	NA	Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.703C>A	9.37:g.79438601G>T	ENSP00000365908:p.Leu235Met	NA	B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	37	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009893	0.35415	.	.	ENSG00000106772	ENST00000376718;ENST00000422033;ENST00000376713	T	0.49139	0.79	5.58	3.77	0.43336	DHHA2 (1);	0.195283	0.35555	N	0.003133	T	0.58481	0.2125	L	0.61218	1.895	0.80722	D	1	D;P	0.89917	1.0;0.954	D;P	0.81914	0.995;0.867	T	0.59005	-0.7535	10	0.72032	D	0.01	.	3.3472	0.07140	0.1412:0.1347:0.5853:0.1388	.	235;235	Q8WUY3;D6RTK6	PRUN2_HUMAN;.	M	235;234;235	ENSP00000365908:L235M	ENSP00000365903:L235M	L	-	1	2	PRUNE2	78628421	1.000000	0.71417	0.991000	0.47740	0.455000	0.32408	1.101000	0.31037	0.743000	0.32719	-1.008000	0.02478	CTG	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052730.2		-	ENST00000376718.3	Missense_Mutation	SNP	9 : 79438601 - 79438601 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	483	91
KRTAP21-1	337977	broad.mit.edu	37	21	32127556	32127556	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32127556G>T	ENST00000335093.3	-	1	190	c.141C>A	c.(139-141)ggC>ggA	p.G47G		NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	47						intermediate filament				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						cataaccacagccataatggg	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	135	142			NA	NA	21		NA											NA				32127556		2203	4300	6503	SO:0001819	synonymous_variant			AP001709	CCDS13606.1	21q22.1	2006-03-13			ENSG00000187005	ENSG00000187005	337977	337977		Keratin associated proteins	18945	protein-coding gene	gene with protein product					NA	12359730	Standard		NM_181619	NA	Approved	KAP21.1	uc011adi.2	Q3LI58	OTTHUMG00000057777	ENST00000335093.3:c.141C>A	21.37:g.32127556G>T		NA		37	CCDS13606.1																																																																																			KRTAP21-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128229.2		-	ENST00000335093.3	Silent	SNP	21 : 32127556 - 32127556 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1123	201
ACTL7B	10880	broad.mit.edu	37	9	111617062	111617062	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111617062G>A	ENST00000374667.3	-	1	2177	c.1149C>T	c.(1147-1149)ggC>ggT	p.G383G		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	383						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	p.G383G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GGATGGAACCGCCGGTCCACA	0.657		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)											36	44	42			NA	NA	9		NA											NA				111617062		2201	4297	6498	SO:0001819	synonymous_variant			BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156	10880	10880			162	protein-coding gene	gene with protein product		604304			NA	10373328, 12907721	Standard	NM_006686	NM_006686	NA	Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.1149C>T	9.37:g.111617062G>A		NA	B2R9Q2|Q5JSV1	37	CCDS6771.1																																																																																			ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053571.1		-	ENST00000374667.3	Silent	SNP	9 : 111617062 - 111617062 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	530	57
GP9	2815	broad.mit.edu	37	3	128780850	128780850	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128780850G>A	ENST00000307395.4	+	3	490	c.268G>A	c.(268-270)Gac>Aac	p.D90N		NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN	glycoprotein IX (platelet)	90	LRRCT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding			NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	CTGGCACTGTGACTGCAGCCT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	44	45			NA	NA	3		NA											NA				128780850		2203	4300	6503	SO:0001583	missense				CCDS3055.1	3q21.3	2014-09-17				ENSG00000169704	2815	2815		CD molecules	4444	protein-coding gene	gene with protein product		173515			NA	2253772	Standard		XM_005247374	NA	Approved	CD42a, GPIX	uc003elm.2	P14770		ENST00000307395.4:c.268G>A	3.37:g.128780850G>A	ENSP00000303942:p.Asp90Asn	NA	Q14445|Q8N1D1|Q92525	37	CCDS3055.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.291792	0.80914	.	.	ENSG00000169704	ENST00000307395	D	0.91068	-2.78	4.17	4.17	0.49024	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	U	0.000000	D	0.91723	0.7383	M	0.69185	2.1	0.45791	D	0.998672	D	0.63880	0.993	P	0.52309	0.695	D	0.91489	0.5210	10	0.42905	T	0.14	-34.9611	13.9974	0.64411	0.0:0.0:1.0:0.0	.	90	P14770	GPIX_HUMAN	N	90	ENSP00000303942:D90N	ENSP00000303942:D90N	D	+	1	0	GP9	130263540	1.000000	0.71417	0.996000	0.52242	0.932000	0.56968	3.765000	0.55272	2.120000	0.65058	0.462000	0.41574	GAC	GP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358428.1		+	ENST00000307395.4	Missense_Mutation	SNP	3 : 128780850 - 128780850 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	431	80
SIN3B	23309	broad.mit.edu	37	19	16987345	16987345	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16987345C>T	ENST00000379803.1	+	17	2925	c.2911C>T	c.(2911-2913)Ctg>Ttg	p.L971L	SIN3B_ENST00000595541.1_Silent_p.L529L|SIN3B_ENST00000248054.5_Silent_p.L939L	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	971					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CATCGAGCTCCTGGACACCGA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	57	62			NA	NA	19		NA											NA				16987345		2203	4300	6503	SO:0001819	synonymous_variant			AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21				23309	23309			19354	protein-coding gene	gene with protein product		607777	SIN3 homolog B, transcription regulator (yeast), SIN3 transcription regulator homolog B (yeast)		NA	9734811	Standard	NM_015260	XM_005259832	NA	Approved	KIAA0700	uc002ney.2	O75182		ENST00000379803.1:c.2911C>T	19.37:g.16987345C>T		NA	Q2NL91|Q68GC2|Q6P4B8|Q8TB34|Q9BSC8	37	CCDS32946.1																																																																																			SIN3B-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462848.1		+	ENST00000379803.1	Silent	SNP	19 : 16987345 - 16987345 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	63
BSN	8927	broad.mit.edu	37	3	49692063	49692063	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49692063G>A	ENST00000296452.4	+	5	5188	c.5074G>A	c.(5074-5076)Gaa>Aaa	p.E1692K		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1692					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCTTGCTGTGGAAGCGAGGAA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	96	98			NA	NA	3		NA											NA				49692063		2203	4300	6503	SO:0001583	missense			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061	8927	8927			1117	protein-coding gene	gene with protein product	zinc finger protein 231, neuronal double zinc finger protein	604020	bassoon (presynaptic cytomatrix protein)	ZNF231	NA	9806829, 10329005	Standard	NM_003458	NM_003458	NA	Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.5074G>A	3.37:g.49692063G>A	ENSP00000296452:p.Glu1692Lys	NA	O43161|Q7LGH3	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602687	0.66445	.	.	ENSG00000164061	ENST00000296452	T	0.24350	1.86	5.16	5.16	0.70880	.	0.051936	0.85682	D	0.000000	T	0.49355	0.1552	M	0.64997	1.995	0.58432	D	0.999999	D	0.76494	0.999	D	0.69654	0.965	T	0.47812	-0.9088	10	0.54805	T	0.06	.	18.6541	0.91441	0.0:0.0:1.0:0.0	.	1692	Q9UPA5	BSN_HUMAN	K	1692	ENSP00000296452:E1692K	ENSP00000296452:E1692K	E	+	1	0	BSN	49667067	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.869000	0.99810	2.420000	0.82092	0.561000	0.74099	GAA	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258164.1		+	ENST00000296452.4	Missense_Mutation	SNP	3 : 49692063 - 49692063 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	458	99
WDR96	0	broad.mit.edu	37	10	105927385	105927385	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105927385A>G	ENST00000278064.2	-	22	2920	c.2595T>C	c.(2593-2595)tgT>tgC	p.C865C	WDR96_ENST00000357060.3_Silent_p.C934C|WDR96_ENST00000428666.1_Silent_p.C935C			Q8NDM7	WDR96_HUMAN		934										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTACTTTAAGACACTCTGCTT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								A		1,4405	2.1+/-5.4	0,1,2202	93	97	95		2802	-1.7	1	10		95	0,8600		0,0,4300	no	coding-synonymous	WDR96	NM_025145.5		0,1,6502	GG,GA,AA	NA	0.0,0.0227,0.0077		934/1666	105927385	1,13005	2203	4300	6503	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000278064.2:c.2595T>C	10.37:g.105927385A>G		NA	Q8N9Z8|Q8NE17|Q9H085|Q9H5W3	37		.	.	.	.	.	.	.	.	.	.	A	7.532	0.658789	0.14645	2.27E-4	0.0	ENSG00000197748	ENST00000434629	.	.	.	5.74	-1.67	0.08238	.	.	.	.	.	T	0.50871	0.1641	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	T	0.43766	-0.9371	4	.	.	.	.	6.5222	0.22281	0.6144:0.0:0.2743:0.1114	.	.	.	.	A	295	.	.	V	-	2	0	WDR96	105917375	1.000000	0.71417	0.994000	0.49952	0.748000	0.42578	1.070000	0.30653	-0.099000	0.12263	0.528000	0.53228	GTC	WDR96-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000050200.1		-	ENST00000278064.2	Silent	SNP	10 : 105927385 - 105927385 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	64
ZNF540	163255	broad.mit.edu	37	19	38103199	38103199	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38103199G>A	ENST00000592533.1	+	5	1350	c.1018G>A	c.(1018-1020)Gga>Aga	p.G340R	ZNF540_ENST00000316433.4_Missense_Mutation_p.G340R|ZNF540_ENST00000589117.1_Missense_Mutation_p.G308R|ZNF540_ENST00000343599.5_Missense_Mutation_p.G340R	NM_152606.4	NP_689819.1			zinc finger protein 540	NA										breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAGTGTATGCGGACAACTTAC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	70	71			NA	NA	19		NA											NA				38103199		2203	4300	6503	SO:0001583	missense			AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817	163255	163255		Zinc fingers, C2H2-type, -	25331	protein-coding gene	gene with protein product		613903			NA		Standard	NM_152606	NM_152606	NA	Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1018G>A	19.37:g.38103199G>A	ENSP00000466274:p.Gly340Arg	NA		37	CCDS12506.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.662799	0.29515	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T	0.10288	2.89	2.16	-0.686	0.11324	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04634	0.0126	N	0.11673	0.155	0.09310	N	1	P;P	0.42757	0.789;0.684	B;B	0.36567	0.228;0.114	T	0.36456	-0.9747	9	0.51188	T	0.08	.	5.4742	0.16686	0.0:0.1763:0.5265:0.2972	.	308;340	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	R	340;308	ENSP00000324598:G340R	ENSP00000324598:G340R	G	+	1	0	ZNF540	42795039	0.000000	0.05858	0.000000	0.03702	0.126000	0.20510	-4.809000	0.00183	0.211000	0.20683	0.305000	0.20034	GGA	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459481.1		+	ENST00000592533.1	Missense_Mutation	SNP	19 : 38103199 - 38103199 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	59
AP3D1	8943	broad.mit.edu	37	19	2121812	2121812	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2121812T>C	ENST00000355272.6	-	12	1228	c.1022A>G	c.(1021-1023)cAc>cGc	p.H341R	AP3D1_ENST00000356926.4_Missense_Mutation_p.H250R|AP3D1_ENST00000345016.5_Missense_Mutation_p.H341R|AP3D1_ENST00000350812.6_Missense_Mutation_p.H172R|AP3D1_ENST00000590683.1_5'UTR	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	341					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGTCCTTGTGGGACTGCAC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	144	138			NA	NA	19		NA											NA				2121812		2137	4221	6358	SO:0001583	missense			U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000	8943	8943			568	protein-coding gene	gene with protein product		607246			NA	9151686, 9303295	Standard		NM_003938	NA	Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000355272.6:c.1022A>G	19.37:g.2121812T>C	ENSP00000347416:p.His341Arg	NA	O00202|O75262|Q59HF5|Q96G11|Q9H3C6	37	CCDS58638.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.802321	0.90538	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.14391	2.51;2.51;2.51;2.51	4.39	4.39	0.52855	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45716	0.1356	M	0.94101	3.495	0.80722	D	1	P;D;P	0.53885	0.903;0.963;0.921	P;D;P	0.67103	0.699;0.949;0.851	T	0.59172	-0.7504	10	0.72032	D	0.01	-49.3114	13.0686	0.59048	0.0:0.0:0.0:1.0	.	341;341;250	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	R	250;341;341;341;172	ENSP00000349398:H250R;ENSP00000344055:H341R;ENSP00000347416:H341R;ENSP00000342321:H172R	ENSP00000341579:H341R	H	-	2	0	AP3D1	2072812	1.000000	0.71417	0.996000	0.52242	0.963000	0.63663	7.813000	0.86123	1.759000	0.51996	0.379000	0.24179	CAC	AP3D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450910.2		-	ENST00000355272.6	Missense_Mutation	SNP	19 : 2121812 - 2121812 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	965	173
C17orf62	79415	broad.mit.edu	37	17	80402326	80402326	+	Missense_Mutation	SNP	C	C	T	rs143814965		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80402326C>T	ENST00000583617.1	-	6	495	c.440G>A	c.(439-441)cGc>cAc	p.R147H	C17orf62_ENST00000306645.5_Missense_Mutation_p.R147H|C17orf62_ENST00000336995.7_5'UTR|C17orf62_ENST00000342572.8_Missense_Mutation_p.R23H|C17orf62_ENST00000434650.2_Missense_Mutation_p.R133H|C17orf62_ENST00000437807.2_Missense_Mutation_p.R147H|C17orf62_ENST00000577436.1_Missense_Mutation_p.R133H|C17orf62_ENST00000585064.1_Missense_Mutation_p.R147H|C17orf62_ENST00000585080.1_Missense_Mutation_p.R147H|C17orf62_ENST00000577732.1_Missense_Mutation_p.R147H|C17orf62_ENST00000578913.1_Missense_Mutation_p.R147H|C17orf62_ENST00000578919.1_Missense_Mutation_p.R147H			Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	147						integral to membrane	protein binding			breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GCCTTACCTGCGGTGGCCCAT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	88	76	80		440,440,398,440,440,440,440	4.8	1	17	dbSNP_134	80	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense,missense,missense,missense,missense	C17orf62	NM_001033046.3,NM_001100407.2,NM_001100408.2,NM_001193653.1,NM_001193654.1,NM_001193655.1,NM_001193657.1	29,29,29,29,29,29,29	0,3,6500	TT,TC,CC	NA	0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	147/188,147/188,133/174,147/188,147/188,147/188,147/188	80402326	3,13003	2203	4300	6503	SO:0001583	missense			AK074950	CCDS32776.1, CCDS45817.1	17q25.3	2014-06-09			ENSG00000178927	ENSG00000178927	79415	79415			28672	protein-coding gene	gene with protein product					NA		Standard	NM_001033046	NM_001100407	NA	Approved	MGC4368, FLJ90469	uc021ufr.1	Q9BQA9		ENST00000583617.1:c.440G>A	17.37:g.80402326C>T	ENSP00000462515:p.Arg147His	NA		37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.47|19.47	3.834230|3.834230	0.71373|0.71373	0.0|0.0	3.49E-4|3.49E-4	ENSG00000178927|ENSG00000178927	ENST00000342572|ENST00000536759;ENST00000437807;ENST00000306645;ENST00000434650	.|.	.|.	.|.	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	.|.	.|.	.|.	.|.	T|T	0.77525|0.77525	0.4143|0.4143	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.87578	.|0.933;0.998	T|T	0.78548|0.78548	-0.2162|-0.2162	6|8	0.87932|0.48119	D|T	0|0.1	.|.	16.9278|16.9278	0.86181|0.86181	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|133;147	.|E1B6X3;Q9BQA9	.|.;CQ062_HUMAN	T|H	37|4;147;147;133	.|.	ENSP00000342228:A37T|ENSP00000307765:R147H	A|R	-|-	1|2	0|0	C17orf62|C17orf62	77995615|77995615	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.681000|0.681000	0.39784|0.39784	2.764000|2.764000	0.47613|0.47613	2.229000|2.229000	0.72834|0.72834	0.561000|0.561000	0.74099|0.74099	GCA|CGC	C17orf62-037	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000443265.1		-	ENST00000583617.1	Missense_Mutation	SNP	17 : 80402326 - 80402326 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	372	61
PLEC	5339	broad.mit.edu	37	8	144995861	144995861	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144995861G>A	ENST00000322810.4	-	32	8708	c.8539C>T	c.(8539-8541)Ctg>Ttg	p.L2847L	PLEC_ENST00000356346.3_Silent_p.L2696L|PLEC_ENST00000436759.2_Silent_p.L2737L|PLEC_ENST00000357649.2_Silent_p.L2714L|PLEC_ENST00000354958.2_Silent_p.L2688L|PLEC_ENST00000345136.3_Silent_p.L2710L|PLEC_ENST00000398774.2_Silent_p.L2678L|PLEC_ENST00000354589.3_Silent_p.L2710L|PLEC_ENST00000527096.1_Silent_p.L2733L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2847	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TAAACACTCAGCTTCTCATTG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	47	45			NA	NA	8		NA											NA				144995861		2172	4265	6437	SO:0001819	synonymous_variant			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209	5339	5339			9069	protein-coding gene	gene with protein product		601282	plectin 1, intermediate filament binding protein, 500kD, epidermolysis bullosa simplex 1 (Ogna), plectin 1, intermediate filament binding protein 500kDa	EBS1, PLEC1	NA	8633055, 8696340	Standard	NM_000445	XM_005250976	NA	Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8539C>T	8.37:g.144995861G>A		NA	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	37	CCDS43772.1																																																																																			PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383281.1		-	ENST00000322810.4	Silent	SNP	8 : 144995861 - 144995861 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	429	76
ARL10	285598	broad.mit.edu	37	5	175798762	175798762	+	Missense_Mutation	SNP	G	G	A	rs148633924	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175798762G>A	ENST00000310389.5	+	4	695	c.599G>A	c.(598-600)cGg>cAg	p.R200Q		NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	200							GTP binding			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		GAGCTGCAGCGGGAGCTGGGT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	98	105	103		599	-1.5	1	5	dbSNP_134	103	4,8596	3.7+/-12.6	0,4,4296	yes	missense	ARL10	NM_173664.4	43	0,5,6498	AA,AG,GG	NA	0.0465,0.0227,0.0384	benign	200/245	175798762	5,13001	2203	4300	6503	SO:0001583	missense			BK001673	CCDS4400.1	5q35.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000175414	ENSG00000175414	285598	285598		ADP-ribosylation factors-like, ADP-ribosylation factors	22042	protein-coding gene	gene with protein product			ADP-ribosylation factor-like 10A	ARL10A	NA		Standard	NM_173664	NM_173664	NA	Approved		uc003mec.1	Q8N8L6	OTTHUMG00000130655	ENST00000310389.5:c.599G>A	5.37:g.175798762G>A	ENSP00000308496:p.Arg200Gln	NA		37	CCDS4400.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.570061	0.28003	2.27E-4	4.65E-4	ENSG00000175414	ENST00000310389	T	0.62639	0.01	5.39	-1.55	0.08558	.	4.336230	0.00664	N	0.000603	T	0.36963	0.0986	N	0.04768	-0.165	0.21782	N	0.999548	B	0.16396	0.017	B	0.09377	0.004	T	0.44081	-0.9351	10	0.02654	T	1	-5.0117	9.7024	0.40196	0.6775:0.0:0.3225:0.0	.	200	Q8N8L6	ARL10_HUMAN	Q	200	ENSP00000308496:R200Q	ENSP00000308496:R200Q	R	+	2	0	ARL10	175731368	1.000000	0.71417	0.993000	0.49108	0.903000	0.53119	0.716000	0.25836	-0.310000	0.08766	-1.202000	0.01658	CGG	ARL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253145.2		+	ENST00000310389.5	Missense_Mutation	SNP	5 : 175798762 - 175798762 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	714	197
ZIC5	85416	broad.mit.edu	37	13	100617847	100617847	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:100617847C>A	ENST00000267294.4	-	2	2009	c.1776G>T	c.(1774-1776)ggG>ggT	p.G592G		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	592					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCACTGGAGTCCCCACTGATG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	105	105			NA	NA	13		NA											NA				100617847		2203	4300	6503	SO:0001819	synonymous_variant			AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800	85416	85416		Zinc fingers, C2H2-type	20322	protein-coding gene	gene with protein product			Zic family member 5 (odd-paired homolog, Drosophila)		NA		Standard	NM_033132	NM_033132	NA	Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1776G>T	13.37:g.100617847C>A		NA	Q5VYB0	37	CCDS9494.2																																																																																			ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045623.3		-	ENST00000267294.4	Silent	SNP	13 : 100617847 - 100617847 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	716	117
HRG	3273	broad.mit.edu	37	3	186395415	186395415	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186395415C>T	ENST00000232003.4	+	7	1401	c.1321C>T	c.(1321-1323)Cga>Tga	p.R441*		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	441	His/Pro-rich (HRR).				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CTTAAGAAGGCGAGGCCCAGG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	stop/ARG	0,4406		0,0,2203	69	62	64		1321	2.4	0	3		64	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	HRG	NM_000412.2		0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077		441/526	186395415	1,13005	2203	4300	6503	SO:0001587	stop_gained				CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905	3273	3273			5181	protein-coding gene	gene with protein product	histidine-proline rich glycoprotein, thrombophilia due to elevated HRG	142640			NA	1678514	Standard	NM_000412	NM_000412	NA	Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.1321C>T	3.37:g.186395415C>T	ENSP00000232003:p.Arg441*	NA	B9EK35|D3DNU7	37	CCDS3280.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676245	0.47886	0.0	1.16E-4	ENSG00000113905	ENST00000232003	.	.	.	4.88	2.37	0.29283	.	0.270380	0.26590	N	0.023525	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8229	8.8476	0.35179	0.6:0.4:0.0:0.0	.	.	.	.	X	441	.	ENSP00000232003:R441X	R	+	1	2	HRG	187878109	0.002000	0.14202	0.035000	0.18076	0.002000	0.02628	0.913000	0.28611	1.016000	0.39470	-0.410000	0.06199	CGA	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344655.1		+	ENST00000232003.4	Nonsense_Mutation	SNP	3 : 186395415 - 186395415 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	376	79
SLC25A2	83884	broad.mit.edu	37	5	140682987	140682987	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140682987C>T	ENST00000239451.4	-	1	625	c.446G>A	c.(445-447)aGc>aAc	p.S149N		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	149					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	TGTATTATGGCTTTTTGCTAT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	102	101			NA	NA	5		NA											NA				140682987		2203	4300	6503	SO:0001583	missense			AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329	83884	83884		Solute carriers	22921	protein-coding gene	gene with protein product		608157			NA	11004451	Standard	NM_031947	NM_031947	NA	Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.446G>A	5.37:g.140682987C>T	ENSP00000239451:p.Ser149Asn	NA	Q496C1|Q6XUI0|Q8NFZ2	37	CCDS4258.1	.	.	.	.	.	.	.	.	.	.	C	9.389	1.075023	0.20227	.	.	ENSG00000120329	ENST00000239451	T	0.79247	-1.25	3.78	2.91	0.33838	Mitochondrial carrier domain (2);	0.514389	0.22545	N	0.058679	T	0.68550	0.3013	L	0.47716	1.5	0.21527	N	0.999656	B	0.20368	0.044	B	0.23018	0.043	T	0.56183	-0.8021	10	0.28530	T	0.3	-21.2554	9.8762	0.41205	0.0:0.8956:0.0:0.1044	.	149	Q9BXI2	ORNT2_HUMAN	N	149	ENSP00000239451:S149N	ENSP00000239451:S149N	S	-	2	0	SLC25A2	140663171	1.000000	0.71417	0.005000	0.12908	0.759000	0.43091	6.595000	0.74109	1.181000	0.42912	0.650000	0.86243	AGC	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251799.2		-	ENST00000239451.4	Missense_Mutation	SNP	5 : 140682987 - 140682987 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	713	118
NADSYN1	55191	broad.mit.edu	37	11	71183494	71183494	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71183494G>T	ENST00000319023.2	+	6	595		c.e6-1			NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	NA					NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTCCTCTCCAGGCACACAGAG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(79;763 1781 6490 50276)							NA				0													94	84	87			NA	NA	11		NA											NA				71183494		2200	4294	6494	SO:0001630	splice_region_variant			AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890	55191	55191			29832	protein-coding gene	gene with protein product		608285			NA	12547821	Standard	NM_018161	NM_018161	NA	Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.408-1G>T	11.37:g.71183494G>T		NA	Q86SN2|Q9HA25|Q9NVM8	37	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.701848	0.48307	.	.	ENSG00000172890	ENST00000319023	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5064	0.50468	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NADSYN1	70861142	1.000000	0.71417	0.687000	0.30102	0.115000	0.19883	6.783000	0.75078	2.073000	0.62155	0.561000	0.74099	.	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394356.1	Intron	+	ENST00000319023.2	Splice_Site	SNP	11 : 71183494 - 71183494 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	264	43
RPLP2	6181	broad.mit.edu	37	11	812603	812603	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:812603G>T	ENST00000321153.4	+	4	635	c.241G>T	c.(241-243)Gcc>Tcc	p.A81S	RPLP2_ENST00000532004.1_3'UTR|RPLP2_ENST00000530797.1_Missense_Mutation_p.A81S	NM_001004.3	NP_000995.1	P05387	RLA2_HUMAN	ribosomal protein, large, P2	81					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			lung(1)	1		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGCTCTGCAGCCCCTGCTGC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	41	42			NA	NA	11		NA											NA				812603		2203	4299	6502	SO:0001583	missense			M17887	CCDS7717.1	11p15.5	2011-07-29			ENSG00000177600	ENSG00000177600	6181	6181		L ribosomal proteins	10377	protein-coding gene	gene with protein product	60S acidic ribosomal protein P2, acidic ribosomal phosphoprotein P2	180530		D11S2243E	NA	3323886	Standard	NM_001004	NM_001004	NA	Approved	P2, RPP2, MGC71408, LP2	uc001lrq.1	P05387	OTTHUMG00000133317	ENST00000321153.4:c.241G>T	11.37:g.812603G>T	ENSP00000322419:p.Ala81Ser	NA		37	CCDS7717.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.10|15.10	2.733433|2.733433	0.48939|0.48939	.|.	.|.	ENSG00000177600|ENSG00000177600	ENST00000321153;ENST00000530797|ENST00000530398	.|.	.|.	.|.	4.82|4.82	4.82|4.82	0.62117|0.62117	.|.	0.258634|.	0.36854|.	N|.	0.002380|.	T|T	0.73860|0.73860	0.3641|0.3641	M|M	0.69248|0.69248	2.105|2.105	0.80722|0.80722	D|D	1|1	P|.	0.49447|.	0.924|.	P|.	0.47673|.	0.554|.	T|T	0.73789|0.73789	-0.3872|-0.3872	9|5	0.51188|.	T|.	0.08|.	-13.2689|-13.2689	17.898|17.898	0.88895|0.88895	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	81|.	P05387|.	RLA2_HUMAN|.	S|H	81|57	.|.	ENSP00000322419:A81S|.	A|Q	+|+	1|3	0|2	RPLP2|RPLP2	802603|802603	1.000000|1.000000	0.71417|0.71417	0.912000|0.912000	0.35992|0.35992	0.191000|0.191000	0.23601|0.23601	6.804000|6.804000	0.75186|0.75186	2.394000|2.394000	0.81467|0.81467	0.561000|0.561000	0.74099|0.74099	GCC|CAG	RPLP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257115.2		+	ENST00000321153.4	Missense_Mutation	SNP	11 : 812603 - 812603 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	176	7
GPR128	84873	broad.mit.edu	37	3	100378676	100378676	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100378676G>A	ENST00000475887.1	+	8	1352	c.1083G>A	c.(1081-1083)caG>caA	p.Q361Q	GPR128_ENST00000273352.3_Silent_p.Q656Q|GPR128_ENST00000481506.1_3'UTR			Q96K78	GP128_HUMAN	G protein-coupled receptor 128	656					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						AGAATAACCAGAACCTGACAA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(87;185 1975 7223 18722)							NA				0													134	125	128			NA	NA	3		NA											NA				100378676		2203	4300	6503	SO:0001819	synonymous_variant			AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820	84873	84873		-, GPCR / Class B : Orphans	19241	protein-coding gene	gene with protein product		612307			NA		Standard		NM_032787	NA	Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000475887.1:c.1083G>A	3.37:g.100378676G>A		NA	Q14D94|Q86SQ2	37																																																																																				GPR128-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000353237.1		+	ENST00000475887.1	Silent	SNP	3 : 100378676 - 100378676 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	353	60
RERE	473	broad.mit.edu	37	1	8421825	8421825	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8421825G>A	ENST00000337907.3	-	18	2648	c.2014C>T	c.(2014-2016)Cag>Tag	p.Q672*	RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Nonsense_Mutation_p.Q118*|RERE_ENST00000377464.1_Nonsense_Mutation_p.Q404*|RERE_ENST00000400908.2_Nonsense_Mutation_p.Q672*	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	672					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AACCTCACCTGCGTTTTTGTC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	86	88			NA	NA	1		NA											NA				8421825		2203	4300	6503	SO:0001587	stop_gained			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599	473	473		GATA zinc finger domain containing	9965	protein-coding gene	gene with protein product		605226		ATN1L	NA	10814707, 10729226	Standard		NM_012102	NA	Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.2014C>T	1.37:g.8421825G>A	ENSP00000338629:p.Gln672*	NA	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	37	CCDS95.1	.	.	.	.	.	.	.	.	.	.	G	43	10.035055	0.99321	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908;ENST00000505225	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-19.8783	18.2489	0.89996	0.0:0.0:1.0:0.0	.	.	.	.	X	672;404;118;672;92	.	ENSP00000338629:Q672X	Q	-	1	0	RERE	8344412	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.951000	0.87819	2.576000	0.86940	0.561000	0.74099	CAG	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000004916.1		-	ENST00000337907.3	Nonsense_Mutation	SNP	1 : 8421825 - 8421825 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	360	73
PAPSS1	9061	broad.mit.edu	37	4	108615089	108615089	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:108615089G>T	ENST00000265174.4	-	3	521	c.249C>A	c.(247-249)tgC>tgA	p.C83*	PAPSS1_ENST00000511304.1_Intron	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	83					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		CCAGAGTGTAGCATGGAATAC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	104	108			NA	NA	4		NA											NA				108615089		2203	4300	6503	SO:0001587	stop_gained			Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	9061	9061	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262			NA	9576487, 9771708	Standard		NM_005443	NA	Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.249C>A	4.37:g.108615089G>T	ENSP00000265174:p.Cys83*	NA	O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	37	CCDS3676.1	.	.	.	.	.	.	.	.	.	.	G	38	6.966792	0.97967	.	.	ENSG00000138801	ENST00000265174	.	.	.	5.67	3.82	0.43975	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-25.2707	7.7654	0.28976	0.3465:0.0:0.6535:0.0	.	.	.	.	X	83	.	ENSP00000265174:C83X	C	-	3	2	PAPSS1	108834538	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.722000	0.47269	0.633000	0.30452	0.556000	0.70494	TGC	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253946.2		-	ENST00000265174.4	Nonsense_Mutation	SNP	4 : 108615089 - 108615089 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	44
MFSD2B	388931	broad.mit.edu	37	2	24236237	24236237	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24236237C>A	ENST00000406420.3	+	2	195	c.179C>A	c.(178-180)gCc>gAc	p.A60D	MFSD2B_ENST00000338315.4_Missense_Mutation_p.A60D	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	60					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						GCCTCCAGCGCCACAGCCTTT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	54	54			NA	NA	2		NA											NA				24236237		1981	4154	6135	SO:0001583	missense				CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639	388931	388931			37207	protein-coding gene	gene with protein product					NA	18694395	Standard	NM_001080473	NM_001080473	NA	Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.179C>A	2.37:g.24236237C>A	ENSP00000385527:p.Ala60Asp	NA	B5MC32	37	CCDS46228.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510031	0.85282	.	.	ENSG00000205639	ENST00000406420;ENST00000338315	D;D	0.81739	-1.53;-1.53	5.34	5.34	0.76211	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	U	0.000000	D	0.90055	0.6894	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91059	0.4884	10	0.87932	D	0	-23.2717	16.9131	0.86144	0.0:1.0:0.0:0.0	.	60	A6NFX1	MFS2B_HUMAN	D	60	ENSP00000385527:A60D;ENSP00000342501:A60D	ENSP00000342501:A60D	A	+	2	0	MFSD2B	24089741	1.000000	0.71417	0.990000	0.47175	0.674000	0.39518	6.388000	0.73195	2.677000	0.91161	0.462000	0.41574	GCC	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324307.1		+	ENST00000406420.3	Missense_Mutation	SNP	2 : 24236237 - 24236237 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	72	23
SLIT2	9353	broad.mit.edu	37	4	20568888	20568888	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20568888C>A	ENST00000504154.1	+	27	2981	c.2729C>A	c.(2728-2730)cCt>cAt	p.P910H	SLIT2_ENST00000503823.1_Missense_Mutation_p.P902H|SLIT2_ENST00000503837.1_Missense_Mutation_p.P906H|SLIT2_ENST00000273739.5_Missense_Mutation_p.P914H	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	910					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TTTTCAGGTCCTGTGGATGTC	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	183	182			NA	NA	4		NA											NA				20568888		2203	4299	6502	SO:0001583	missense			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147	9353	9353			11086	protein-coding gene	gene with protein product		603746	slit (Drosophila) homolog 2	SLIL3	NA	9813312, 18269211	Standard		XM_005248211	NA	Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2729C>A	4.37:g.20568888C>A	ENSP00000422591:p.Pro910His	NA	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	37	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418949	0.83559	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000511508	D;D;T;D;D	0.88975	-1.54;-1.56;-1.47;-1.53;-2.45	5.67	5.67	0.87782	.	0.101407	0.64402	D	0.000002	D	0.93562	0.7945	M	0.78637	2.42	0.80722	D	1	D;D	0.69078	0.997;0.989	D;P	0.63381	0.914;0.823	D	0.90823	0.4710	10	0.17369	T	0.5	.	19.7654	0.96337	0.0:1.0:0.0:0.0	.	902;910	O94813-3;O94813	.;SLIT2_HUMAN	H	902;910;914;906;906;122	ENSP00000427548:P902H;ENSP00000422591:P910H;ENSP00000273739:P914H;ENSP00000422261:P906H;ENSP00000421975:P122H	ENSP00000273739:P914H	P	+	2	0	SLIT2	20177986	1.000000	0.71417	0.985000	0.45067	0.745000	0.42441	6.071000	0.71229	2.659000	0.90383	0.655000	0.94253	CCT	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250396.2		+	ENST00000504154.1	Missense_Mutation	SNP	4 : 20568888 - 20568888 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	925	172
USPL1	10208	broad.mit.edu	37	13	31232400	31232400	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:31232400A>C	ENST00000255304.4	+	9	2528	c.2186A>C	c.(2185-2187)gAa>gCa	p.E729A		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	729					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AAGAAAAAAGAAACTACAGCA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(60;318 1180 1554 28110 31601)							NA				0													60	63	62			NA	NA	13		NA											NA				31232400		2203	4300	6503	SO:0001583	missense			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952	10208	10208			20294	protein-coding gene	gene with protein product			chromosome 13 open reading frame 22	C13orf22	NA	22878415	Standard	NM_005800	NM_005800	NA	Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.2186A>C	13.37:g.31232400A>C	ENSP00000255304:p.Glu729Ala	NA	Q14109|Q6AI45|Q8IY30|Q8IYE8	37	CCDS9336.1	.	.	.	.	.	.	.	.	.	.	A	11.01	1.513919	0.27123	.	.	ENSG00000132952	ENST00000255304	T	0.15603	2.41	5.38	5.38	0.77491	.	0.683044	0.15114	N	0.279779	T	0.25717	0.0626	L	0.60455	1.87	0.09310	N	1	P	0.49559	0.925	P	0.47075	0.536	T	0.10222	-1.0639	10	0.41790	T	0.15	-18.7669	13.9512	0.64118	1.0:0.0:0.0:0.0	.	729	Q5W0Q7	USPL1_HUMAN	A	729	ENSP00000255304:E729A	ENSP00000255304:E729A	E	+	2	0	USPL1	30130400	0.910000	0.30920	0.140000	0.22221	0.121000	0.20230	5.665000	0.68052	2.040000	0.60383	0.533000	0.62120	GAA	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044369.1		+	ENST00000255304.4	Missense_Mutation	SNP	13 : 31232400 - 31232400 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	478	98
TMEM132B	114795	broad.mit.edu	37	12	126128656	126128656	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:126128656G>T	ENST00000299308.3	+	6	1465	c.1457G>T	c.(1456-1458)gGg>gTg	p.G486V	TMEM132B_ENST00000535886.1_5'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	486						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TTTGTGAATGGGAAGGAAATG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	93	93			NA	NA	12		NA											NA				126128656		1984	4159	6143	SO:0001583	missense			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02					114795	114795			29397	protein-coding gene	gene with protein product					NA	11572484	Standard	NM_052907	NM_001286219	NA	Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1457G>T	12.37:g.126128656G>T	ENSP00000299308:p.Gly486Val	NA	A2RRG8|Q8NA73|Q96JN9|Q96PY1	37	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.758301	0.49468	.	.	ENSG00000139364	ENST00000299308	T	0.35236	1.32	5.52	4.63	0.57726	.	0.000000	0.53938	U	0.000047	T	0.61763	0.2373	M	0.81239	2.535	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.67975	-0.5531	10	0.87932	D	0	.	14.2899	0.66270	0.0716:0.0:0.9284:0.0	.	486	Q14DG7	T132B_HUMAN	V	486	ENSP00000299308:G486V	ENSP00000299308:G486V	G	+	2	0	TMEM132B	124694609	1.000000	0.71417	0.994000	0.49952	0.009000	0.06853	9.449000	0.97603	1.324000	0.45282	0.655000	0.94253	GGG	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400043.1		+	ENST00000299308.3	Missense_Mutation	SNP	12 : 126128656 - 126128656 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	61
FMNL1	752	broad.mit.edu	37	17	43311026	43311026	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43311026A>G	ENST00000331495.3	+	5	749	c.413A>G	c.(412-414)gAg>gGg	p.E138G	FMNL1_ENST00000328118.3_Missense_Mutation_p.E138G|FMNL1_ENST00000592006.1_3'UTR	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	138	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						TGGGTGCAGGAGTTCCTCAAT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(164;1247 1997 8702 11086 51972)							NA				0													143	127	132			NA	NA	17		NA											NA				43311026		2203	4300	6503	SO:0001583	missense			AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922	752	752			1212	protein-coding gene	gene with protein product		604656	formin-like	C17orf1B, FMNL	NA	9799091	Standard	NM_005892	NM_005892	NA	Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.413A>G	17.37:g.43311026A>G	ENSP00000329219:p.Glu138Gly	NA	Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	37	CCDS11497.1	.	.	.	.	.	.	.	.	.	.	A	18.31	3.594788	0.66219	.	.	ENSG00000184922	ENST00000328118;ENST00000331495	D;D	0.88818	-2.43;-2.43	5.14	5.14	0.70334	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.054446	0.64402	D	0.000001	D	0.95162	0.8432	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.95901	0.8915	10	0.72032	D	0.01	.	13.7986	0.63186	1.0:0.0:0.0:0.0	.	138;138	O95466-2;O95466	.;FMNL_HUMAN	G	138	ENSP00000327442:E138G;ENSP00000329219:E138G	ENSP00000327442:E138G	E	+	2	0	FMNL1	40666809	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	7.362000	0.79507	1.946000	0.56461	0.459000	0.35465	GAG	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450198.1		+	ENST00000331495.3	Missense_Mutation	SNP	17 : 43311026 - 43311026 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	57
AS3MT	57412	broad.mit.edu	37	10	104650340	104650340	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104650340A>G	ENST00000369880.3	+	10	1002	c.925A>G	c.(925-927)Atc>Gtc	p.I309V	C10orf32-ASMT_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenite methyltransferase	309					arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		AACAGCAGCTATCTTGAAGAA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	109	112			NA	NA	10		NA											NA				104650340		1837	4081	5918	SO:0001583	missense			AF226730	CCDS41567.1	10q24.33	2014-05-09	2014-05-09		ENSG00000214435	ENSG00000214435	57412	57412	2.1.1.137		17452	protein-coding gene	gene with protein product		611806	arsenic (+3 oxidation state) methyltransferase		NA	11790780	Standard	NM_020682	NM_020682	NA	Approved	CYT19	uc001kwk.3	Q9HBK9	OTTHUMG00000018972	ENST00000369880.3:c.925A>G	10.37:g.104650340A>G	ENSP00000358896:p.Ile309Val	NA	A6NP79|Q5PZ02	37	CCDS41567.1	.	.	.	.	.	.	.	.	.	.	A	12.43	1.935135	0.34189	.	.	ENSG00000214435	ENST00000369880	T	0.23552	1.9	5.08	1.25	0.21368	.	0.103406	0.64402	N	0.000005	T	0.23451	0.0567	M	0.62209	1.925	0.25357	N	0.988814	B;B;B	0.22746	0.074;0.044;0.044	B;B;B	0.21917	0.037;0.026;0.026	T	0.17471	-1.0368	9	0.38643	T	0.18	-5.2001	8.5109	0.33217	0.7531:0.0:0.2469:0.0	.	309;309;309	Q0VDK3;Q9HBK9;Q0VDK4	.;AS3MT_HUMAN;.	V	309	ENSP00000358896:I309V	ENSP00000358896:I309V	I	+	1	0	AS3MT	104640330	0.412000	0.25392	0.952000	0.39060	0.984000	0.73092	-0.020000	0.12525	0.320000	0.23234	0.413000	0.27773	ATC	AS3MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050107.1		+	ENST00000369880.3	Missense_Mutation	SNP	10 : 104650340 - 104650340 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	528	113
MAP1A	4130	broad.mit.edu	37	15	43818982	43818982	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43818982C>T	ENST00000382031.1	+	5	6056	c.6025C>T	c.(6025-6027)Cgc>Tgc	p.R2009C	MAP1A_ENST00000300231.5_Missense_Mutation_p.R1771C|MAP1A_ENST00000399453.1_Missense_Mutation_p.R1771C			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1771						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGAGGTGGAGCGCTGGCTTGC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	86	86			NA	NA	15		NA											NA				43818982		1973	4150	6123	SO:0001583	missense			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963	4130	4130			6835	protein-coding gene	gene with protein product		600178		MAP1L	NA	7806212, 7629894	Standard	NM_002373	XM_005254385	NA	Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000382031.1:c.6025C>T	15.37:g.43818982C>T	ENSP00000371462:p.Arg2009Cys	NA	O95643|Q12973|Q15882|Q9UJT4	37		.	.	.	.	.	.	.	.	.	.	C	12.67	2.006320	0.35415	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01947	4.54;4.54;4.55	4.46	4.46	0.54185	.	0.000000	0.34314	N	0.004061	T	0.04048	0.0113	L	0.32530	0.975	0.43512	D	0.995775	D	0.69078	0.997	P	0.52710	0.707	T	0.48387	-0.9040	10	0.72032	D	0.01	-0.4217	9.7751	0.40614	0.0:0.9038:0.0:0.0962	.	1771	P78559	MAP1A_HUMAN	C	2009;1771;1771	ENSP00000371462:R2009C;ENSP00000382380:R1771C;ENSP00000300231:R1771C	ENSP00000300231:R1771C	R	+	1	0	MAP1A	41606274	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	1.270000	0.33086	2.321000	0.78463	0.455000	0.32223	CGC	MAP1A-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000132895.2		+	ENST00000382031.1	Missense_Mutation	SNP	15 : 43818982 - 43818982 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	851	133
ASNS	440	broad.mit.edu	37	7	97498296	97498296	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97498296C>T	ENST00000422745.1	-	2	238	c.110G>A	c.(109-111)gGa>gAa	p.G37E	ASNS_ENST00000437628.1_Intron|ASNS_ENST00000455086.1_Intron|ASNS_ENST00000444334.1_Missense_Mutation_p.G37E|ASNS_ENST00000175506.4_Missense_Mutation_p.G58E|ASNS_ENST00000394309.3_Missense_Mutation_p.G58E|ASNS_ENST00000394308.3_Missense_Mutation_p.G58E			P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	58	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TGGCTGCATTCCAAACAGCGG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)							NA				0													87	76	80			NA	NA	7		NA											NA				97498296		2203	4300	6503	SO:0001583	missense			M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	440	440	6.3.5.4		753	protein-coding gene	gene with protein product		108370	asparagine synthetase		NA		Standard	NM_001673, NM_183356	NM_001673	NA	Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000422745.1:c.110G>A	7.37:g.97498296C>T	ENSP00000414901:p.Gly37Glu	NA	A4D1I8|D6W5R3|P08184|Q15666|Q549T9|Q96HD0	37	CCDS55132.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345652	0.82022	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000394308;ENST00000422745;ENST00000444334;ENST00000442734;ENST00000437657;ENST00000448127;ENST00000453600	T;T;T;T;T;T	0.57907	0.4;0.4;0.4;0.37;0.37;0.58	3.77	3.77	0.43336	Glutamine amidotransferase, type II (1);	0.054876	0.64402	D	0.000001	T	0.82038	0.4950	H	0.98664	4.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88657	0.3186	10	0.87932	D	0	-17.7657	13.4946	0.61416	0.0:1.0:0.0:0.0	.	58	P08243	ASNS_HUMAN	E	58;58;58;37;37;58;58;58;37	ENSP00000175506:G58E;ENSP00000377846:G58E;ENSP00000377845:G58E;ENSP00000414901:G37E;ENSP00000406994:G37E;ENSP00000400422:G58E	ENSP00000175506:G58E	G	-	2	0	ASNS	97336232	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.026000	0.76455	2.120000	0.65058	0.555000	0.69702	GGA	ASNS-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333642.1		-	ENST00000422745.1	Missense_Mutation	SNP	7 : 97498296 - 97498296 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	406	100
IFLTD1	0	broad.mit.edu	37	12	25699363	25699363	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25699363T>C	ENST00000539744.1	-	4	561	c.82A>G	c.(82-84)Aaa>Gaa	p.K28E	IFLTD1_ENST00000413632.2_Missense_Mutation_p.K146E|IFLTD1_ENST00000458174.2_Missense_Mutation_p.K146E|IFLTD1_ENST00000282881.6_Missense_Mutation_p.K125E|IFLTD1_ENST00000445693.1_Missense_Mutation_p.K62E	NM_001256266.1	NP_001243195.1	Q8N9Z9	ILFT1_HUMAN		125						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					TTTAAAGTTTTCTGAGTGTAG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	88	89			NA	NA	12		NA											NA				25699363		2203	4299	6502	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000539744.1:c.82A>G	12.37:g.25699363T>C	ENSP00000443132:p.Lys28Glu	NA	B4DL27|B4DY70|Q8IY38	37	CCDS58218.1	.	.	.	.	.	.	.	.	.	.	T	11.92	1.783311	0.31593	.	.	ENSG00000152936	ENST00000282881;ENST00000539744;ENST00000458174;ENST00000445693;ENST00000413632;ENST00000538178;ENST00000540106	T;T;T;T;T	0.15718	2.61;2.66;2.61;2.63;2.4	4.9	2.19	0.27852	.	.	.	.	.	T	0.11750	0.0286	N	0.24115	0.695	0.09310	N	1	P;P;P;P	0.42941	0.458;0.794;0.793;0.689	B;B;B;B	0.42738	0.194;0.194;0.396;0.223	T	0.20505	-1.0273	9	0.25106	T	0.35	-14.7294	6.9359	0.24466	0.0:0.1707:0.0:0.8293	.	62;146;146;125	Q8N9Z9-3;Q8N9Z9-5;Q8N9Z9-4;Q8N9Z9	.;.;.;ILFT1_HUMAN	E	125;28;146;62;146;100;100	ENSP00000282881:K125E;ENSP00000443132:K28E;ENSP00000407353:K146E;ENSP00000407043:K62E;ENSP00000393150:K146E	ENSP00000282881:K125E	K	-	1	0	IFLTD1	25590630	0.014000	0.17966	0.018000	0.16275	0.004000	0.04260	1.174000	0.31932	0.326000	0.23384	0.533000	0.62120	AAA	IFLTD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402078.1		-	ENST00000539744.1	Missense_Mutation	SNP	12 : 25699363 - 25699363 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	339	70
ITPR2	3709	broad.mit.edu	37	12	26816642	26816642	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:26816642C>T	ENST00000381340.3	-	15	2105	c.1689G>A	c.(1687-1689)tcG>tcA	p.S563S		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	563					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AATCCTGCTGCGAGTGTCTCA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													240	241	240			NA	NA	12		NA											NA				26816642		1874	4108	5982	SO:0001819	synonymous_variant			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104	3709	3709		Ion channels / Inositol triphosphate receptors	6181	protein-coding gene	gene with protein product	cilia and flagella associated protein 48	600144	inositol 1,4,5-triphosphate receptor, type 2		NA	8081734	Standard	NM_002223	XM_006719064	NA	Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.1689G>A	12.37:g.26816642C>T		NA	O94773	37	CCDS41764.1																																																																																			ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402732.1		-	ENST00000381340.3	Silent	SNP	12 : 26816642 - 26816642 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1839	365
NBEAL1	65065	broad.mit.edu	37	2	204016309	204016309	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204016309C>T	ENST00000449802.1	+	34	5830	c.5497C>T	c.(5497-5499)Ctg>Ttg	p.L1833L		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1833							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GAGAGATAATCTGGGTGAGTT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	69	70			NA	NA	2		NA											NA				204016309		1856	4108	5964	SO:0001819	synonymous_variant			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426	65065	65065		WD repeat domain containing	20681	protein-coding gene	gene with protein product		609816	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17, amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16	ALS2CR17, ALS2CR16	NA	15193433	Standard		NM_001114132	NA	Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.5497C>T	2.37:g.204016309C>T		NA	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	37	CCDS46495.1																																																																																			NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333982.4		+	ENST00000449802.1	Silent	SNP	2 : 204016309 - 204016309 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	42
TMED7	51014	broad.mit.edu	37	5	114956247	114956247	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114956247A>C	ENST00000503010.1	-	0	309				TMED7-TICAM2_ENST00000333314.3_Missense_Mutation_p.F108C|TMED7_ENST00000456936.3_Missense_Mutation_p.F108C|AC010226.4_ENST00000515570.1_RNA|TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.F108C|TICAM2_ENST00000408996.4_Missense_Mutation_p.F108C					transmembrane emp24 protein transport domain containing 7	NA										breast(1)|endometrium(2)|liver(1)|lung(1)|urinary_tract(1)	6		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;3.34e-07)|Epithelial(69;1.08e-06)|all cancers(49;4.56e-05)		GCTGAAGCAAAATTTGTATGT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(167;237 2002 3207 14549 49356)							NA				0													126	128	127			NA	NA	5		NA											NA				114956247		2202	4300	6502	SO:0001623	5_prime_UTR_variant			AK074962	CCDS4120.1	5q22.3	2011-04-19			ENSG00000134970	ENSG00000134970	51014	51014			24253	protein-coding gene	gene with protein product					NA	10810093	Standard	NM_181836	NM_181836	NA	Approved	CGI-109, FLJ90481		Q9Y3B3	OTTHUMG00000132013	ENST00000503010.1:c.-496T>G	5.37:g.114956247A>C		NA		37		.	.	.	.	.	.	.	.	.	.	a	24.8	4.571078	0.86542	.	.	ENSG00000243414;ENSG00000251201;ENSG00000251201;ENSG00000134970	ENST00000408996;ENST00000282382;ENST00000333314;ENST00000456936	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.92	5.92	0.95590	GOLD (3);	0.097816	0.64402	D	0.000001	T	0.75867	0.3908	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.993	T	0.82096	-0.0626	10	0.72032	D	0.01	-15.079	15.3535	0.74409	1.0:0.0:0.0:0.0	.	108;108	Q9Y3B3;Q6JUT2	TMED7_HUMAN;.	C	108	ENSP00000386341:F108C;ENSP00000282382:F108C;ENSP00000333650:F108C;ENSP00000405926:F108C	ENSP00000405926:F108C	F	-	2	0	TMED7;TICAM2;TMED7-TICAM2	114984146	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.335000	0.96500	2.267000	0.75376	0.477000	0.44152	TTT	TMED7-004	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000371012.1		-	ENST00000503010.1	5'UTR	SNP	5 : 114956247 - 114956247 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	83
GPR152	390212	broad.mit.edu	37	11	67219490	67219490	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67219490C>T	ENST00000312457.2	-	1	710	c.706G>A	c.(706-708)Gcc>Acc	p.A236T		NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	236						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GCCACACGGGCGAAGCCCCGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(102;800 1581 2723 7382 33622)							NA				0													31	33	33			NA	NA	11		NA											NA				67219490		2200	4295	6495	SO:0001583	missense			AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514	390212	390212		GPCR / Class A : Orphans	23622	protein-coding gene	gene with protein product					NA	12679517	Standard		NM_206997	NA	Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.706G>A	11.37:g.67219490C>T	ENSP00000310255:p.Ala236Thr	NA	Q0VD88|Q86SM0	37	CCDS8165.1	.	.	.	.	.	.	.	.	.	.	C	9.934	1.215546	0.22373	.	.	ENSG00000175514	ENST00000312457	T	0.73469	-0.75	4.58	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	0.190474	0.25648	N	0.029228	T	0.58509	0.2127	N	0.14661	0.345	0.30379	N	0.782109	D	0.55172	0.97	P	0.46208	0.507	T	0.58595	-0.7609	10	0.32370	T	0.25	.	9.2278	0.37418	0.3228:0.6772:0.0:0.0	.	236	Q8TDT2	GP152_HUMAN	T	236	ENSP00000310255:A236T	ENSP00000310255:A236T	A	-	1	0	GPR152	66976066	0.000000	0.05858	0.870000	0.34147	0.133000	0.20885	0.582000	0.23834	2.350000	0.79820	0.561000	0.74099	GCC	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397623.1		-	ENST00000312457.2	Missense_Mutation	SNP	11 : 67219490 - 67219490 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	26
CBLC	23624	broad.mit.edu	37	19	45287578	45287578	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45287578C>T	ENST00000270279.3	+	5	900	c.837C>T	c.(835-837)agC>agT	p.S279S	CBLC_ENST00000341505.4_Intron	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	279	Cbl-PTB.|SH2-like.				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				GCTATGTGAGCTCAGATGGCA	0.597		NA	M		AML						OREG0025542	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		19	19q13.2	23624	Cas-Br-M (murine) ecotropic retroviral transforming sequence c		L	0													129	85	100			NA	NA	19		NA											NA				45287578		2203	4300	6503	SO:0001819	synonymous_variant			AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273	23624	23624		RING-type (C3HC4) zinc fingers	15961	protein-coding gene	gene with protein product		608453	Cas-Br-M (murine) ectropic retroviral transforming sequence c, Cas-Br-M (murine) ecotropic retroviral transforming sequence c		NA	10362357, 10571044	Standard	NM_012116	NM_012116	NA	Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.837C>T	19.37:g.45287578C>T		930	Q8N1E5|Q9Y5Z2|Q9Y5Z3	37	CCDS12643.1																																																																																			CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319732.2		+	ENST00000270279.3	Silent	SNP	19 : 45287578 - 45287578 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	316	14
CLIP4	79745	broad.mit.edu	37	2	29397296	29397296	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29397296G>T	ENST00000320081.5	+	15	2036	c.1781G>T	c.(1780-1782)aGa>aTa	p.R594I	CLIP4_ENST00000401605.1_Missense_Mutation_p.R594I|CLIP4_ENST00000401617.2_Missense_Mutation_p.R487I|CLIP4_ENST00000404424.1_Missense_Mutation_p.R594I	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	594										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					ATTAACAGAAGAAATGCTTTT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	82	81			NA	NA	2		NA											NA				29397296		2203	4300	6503	SO:0001583	missense			AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295	79745	79745		Ankyrin repeat domain containing	26108	protein-coding gene	gene with protein product			restin-like 2	RSNL2	NA		Standard	NM_024692	XM_005264562	NA	Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.1781G>T	2.37:g.29397296G>T	ENSP00000327009:p.Arg594Ile	NA	A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	37	CCDS1770.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524429	0.85600	.	.	ENSG00000115295	ENST00000401605;ENST00000401617;ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000530644	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	6.07	6.07	0.98685	Cytoskeleton-associated protein, Gly-rich domain (1);	0.095372	0.64402	D	0.000001	T	0.46698	0.1406	L	0.27053	0.805	0.80722	D	1	P	0.49961	0.93	P	0.44860	0.462	T	0.36335	-0.9752	10	0.38643	T	0.18	.	17.8153	0.88630	0.0:0.0:1.0:0.0	.	594	Q8N3C7	CLIP4_HUMAN	I	594;487;594;596;594;612;554	ENSP00000384242:R594I;ENSP00000385148:R487I;ENSP00000385594:R594I;ENSP00000327009:R594I	ENSP00000327009:R594I	R	+	2	0	CLIP4	29250800	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.806000	0.55583	2.885000	0.99019	0.655000	0.94253	AGA	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000215123.2		+	ENST00000320081.5	Missense_Mutation	SNP	2 : 29397296 - 29397296 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	310	36
NOL4	8715	broad.mit.edu	37	18	31537445	31537445	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31537445G>A	ENST00000535384.1	-	4	656	c.418C>T	c.(418-420)Cga>Tga	p.R140*	NOL4_ENST00000538587.1_Nonsense_Mutation_p.R351*|NOL4_ENST00000261592.5_Nonsense_Mutation_p.R425*|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000535475.1_Intron|NOL4_ENST00000589544.1_Intron	NM_001198549.1	NP_001185478.1	O94818	NOL4_HUMAN	nucleolar protein 4	425						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GGGACCATTCGGTCCAAGTTT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	74	80			NA	NA	18		NA											NA				31537445		2203	4300	6503	SO:0001587	stop_gained			AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746	8715	8715			7870	protein-coding gene	gene with protein product	cancer/testis antigen 125	603577			NA	9813152	Standard	NM_003787	NM_003787	NA	Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000535384.1:c.418C>T	18.37:g.31537445G>A	ENSP00000445733:p.Arg140*	NA	Q6IBS2|Q9BWF1	37	CCDS56058.1	.	.	.	.	.	.	.	.	.	.	G	40	8.247237	0.98724	.	.	ENSG00000101746	ENST00000261592;ENST00000535384;ENST00000538587	.	.	.	6.01	6.01	0.97437	.	0.000000	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4849	20.5073	0.99209	0.0:0.0:1.0:0.0	.	.	.	.	X	425;140;351	.	ENSP00000261592:R425X	R	-	1	2	NOL4	29791443	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.855000	0.98099	0.585000	0.79938	CGA	NOL4-006	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442111.1		-	ENST00000535384.1	Nonsense_Mutation	SNP	18 : 31537445 - 31537445 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	231	30
SGK1	6446	broad.mit.edu	37	6	134495755	134495755	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:134495755G>A	ENST00000367857.5	-	1	248	c.16C>T	c.(16-18)Cgt>Tgt	p.R6C	SGK1_ENST00000475719.2_Intron|SGK1_ENST00000237305.7_Intron|SGK1_ENST00000367858.5_Intron|SGK1_ENST00000528577.1_Intron|SGK1_ENST00000413996.3_Intron			O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	0	Necessary for localization to the cytoplasm.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	p.R6S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		ATAAAGAAACGTTTAGACGGC	0.463		NA									OREG0017675	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											68	68	68			NA	NA	6		NA											NA				134495755		2203	4300	6503	SO:0001583	missense			AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515	6446	6446			10810	protein-coding gene	gene with protein product		602958	serum/glucocorticoid regulated kinase	SGK	NA	9114008, 9722955	Standard		NM_005627	NA	Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000367857.5:c.16C>T	6.37:g.134495755G>A	ENSP00000356831:p.Arg6Cys	1611	B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	37		.	.	.	.	.	.	.	.	.	.	G	18.98	3.738657	0.69304	.	.	ENSG00000118515	ENST00000367857	T	0.32023	1.47	4.99	0.593	0.17478	.	.	.	.	.	T	0.24470	0.0593	.	.	.	0.09310	N	0.999995	D	0.61697	0.99	P	0.59171	0.853	T	0.04427	-1.0952	7	.	.	.	.	5.8485	0.18679	0.329:0.0:0.5363:0.1347	.	6	O00141-4	.	C	6	ENSP00000356831:R6C	.	R	-	1	0	SGK1	134537448	0.099000	0.21834	0.000000	0.03702	0.080000	0.17528	0.394000	0.20834	0.212000	0.20703	-0.345000	0.07892	CGT	SGK1-011	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000042314.2		-	ENST00000367857.5	Missense_Mutation	SNP	6 : 134495755 - 134495755 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	247	52
C17orf67	339210	broad.mit.edu	37	17	54893177	54893177	+	Translation_Start_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54893177C>A	ENST00000397861.2	-	0	1274				C17orf67_ENST00000575658.1_Missense_Mutation_p.G23C|C17orf67_ENST00000397862.2_Missense_Mutation_p.G23C			Q0P5P2	CQ067_HUMAN	chromosome 17 open reading frame 67	NA						extracellular region				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7	Breast(9;2.49e-06)					TTCATCCTGCCTTGGTTCCTC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	92	91			NA	NA	17		NA											NA				54893177		2130	4243	6373					BC041467	CCDS42364.1, CCDS42364.2	17q23.2	2012-10-11			ENSG00000214226	ENSG00000214226	339210	339210			27900	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_001085430	NM_001085430	NA	Approved		uc002iuq.4	Q0P5P2	OTTHUMG00000132083	ENST00000397861.2:c.-6G>T	17.37:g.54893177C>A		NA		37	CCDS42364.2	.	.	.	.	.	.	.	.	.	.	C	6.632	0.485154	0.12641	.	.	ENSG00000214226	ENST00000397861;ENST00000397862	.	.	.	3.37	2.39	0.29439	.	.	.	.	.	T	0.19805	0.0476	N	0.08118	0	0.20563	N	0.999885	D	0.58268	0.982	P	0.50490	0.642	T	0.05435	-1.0885	8	0.37606	T	0.19	-3.932	5.3929	0.16253	0.0:0.7225:0.0:0.2775	.	23	Q0P5P2	CQ067_HUMAN	C	23	.	ENSP00000380959:G23C	G	-	1	0	C17orf67	52248176	0.038000	0.19896	0.670000	0.29842	0.427000	0.31564	0.004000	0.13106	0.751000	0.32900	-0.271000	0.10264	GGC	C17orf67-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255111.2		-	ENST00000397861.2	De_novo_Start_OutOfFrame	SNP	17 : 54893177 - 54893177 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	228	46
GRID1	2894	broad.mit.edu	37	10	87373312	87373312	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:87373312C>T	ENST00000327946.7	-	15	2538	c.2453G>A	c.(2452-2454)aGc>aAc	p.S818N	GRID1_ENST00000536331.1_Missense_Mutation_p.S389N	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	818						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GGCCTGGGCGCTGGCATGGCT	0.647		NA								Multiple Myeloma(13;0.14)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	73	70			NA	NA	10		NA											NA				87373312		2203	4300	6503	SO:0001583	missense			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771	2894	2894		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4575	protein-coding gene	gene with protein product		610659			NA		Standard	XM_043613	NM_017551	NA	Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2453G>A	10.37:g.87373312C>T	ENSP00000330148:p.Ser818Asn	NA	B3KXD5|Q8IXT3	37	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.344150	0.24339	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.15017	2.64;2.46	5.74	4.84	0.62591	Ionotropic glutamate receptor (1);	0.732309	0.14818	N	0.296678	T	0.08403	0.0209	N	0.10645	0.015	0.21675	N	0.999598	B	0.02656	0.0	B	0.04013	0.001	T	0.32640	-0.9899	10	0.22706	T	0.39	.	7.7553	0.28921	0.0:0.7523:0.0:0.2477	.	818	Q9ULK0	GRID1_HUMAN	N	818;389	ENSP00000330148:S818N;ENSP00000444455:S389N	ENSP00000330148:S818N	S	-	2	0	GRID1	87363292	0.002000	0.14202	0.856000	0.33681	0.776000	0.43924	0.701000	0.25616	1.433000	0.47394	0.650000	0.86243	AGC	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049148.3		-	ENST00000327946.7	Missense_Mutation	SNP	10 : 87373312 - 87373312 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	573	110
SPATC1	375686	broad.mit.edu	37	8	145095869	145095869	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145095869A>G	ENST00000377470.3	+	3	1269	c.1167A>G	c.(1165-1167)ccA>ccG	p.P389P	SPATC1_ENST00000447830.2_Silent_p.P389P	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	389										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-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;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCACTCCCCACCTCGTACCT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													222	96	139			NA	NA	8		NA											NA				145095869		2202	4299	6501	SO:0001819	synonymous_variant			BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583	375686	375686			30510	protein-coding gene	gene with protein product		610874			NA	15280373	Standard	NM_198572	NM_198572	NA	Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.1167A>G	8.37:g.145095869A>G		NA	Q5U5I8|Q7Z6L7	37	CCDS6413.2																																																																																			SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346926.1		+	ENST00000377470.3	Silent	SNP	8 : 145095869 - 145095869 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	495	91
PPP2R3A	5523	broad.mit.edu	37	3	135822208	135822208	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:135822208C>T	ENST00000264977.3	+	12	3829	c.3212C>T	c.(3211-3213)gCg>gTg	p.A1071V	PPP2R3A_ENST00000469270.1_3'UTR|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.A335V|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.A450V	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	1071					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GATCCCTTTGCGGTCCAGAAG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	79	79			NA	NA	3		NA											NA				135822208		2203	4300	6503	SO:0001583	missense			L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	5523	5523	3.1.3.16	Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits, EF-hand domain containing	9307	protein-coding gene	gene with protein product		604944	protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform, protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha	PPP2R3	NA	8392071	Standard	NM_002718	NM_002718	NA	Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.3212C>T	3.37:g.135822208C>T	ENSP00000264977:p.Ala1071Val	NA	A8KAE7|B7ZAE3|Q06189|Q9NPQ5	37	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928315	0.92389	.	.	ENSG00000073711	ENST00000264977;ENST00000490467;ENST00000334546	T;T;T	0.25414	3.19;1.8;2.11	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.44498	0.1296	L	0.50993	1.605	0.80722	D	1	D;D	0.76494	0.993;0.999	P;P	0.62382	0.796;0.901	T	0.18524	-1.0334	10	0.51188	T	0.08	.	18.4735	0.90783	0.0:1.0:0.0:0.0	.	450;1071	Q06190-2;Q06190	.;P2R3A_HUMAN	V	1071;335;450	ENSP00000264977:A1071V;ENSP00000419344:A335V;ENSP00000334748:A450V	ENSP00000264977:A1071V	A	+	2	0	PPP2R3A	137304898	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	7.776000	0.85560	2.677000	0.91161	0.561000	0.74099	GCG	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357232.1		+	ENST00000264977.3	Missense_Mutation	SNP	3 : 135822208 - 135822208 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	346	72
PMEPA1	56937	broad.mit.edu	37	20	56227303	56227303	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:56227303G>A	ENST00000341744.3	-	4	989	c.670C>T	c.(670-672)Cgc>Tgc	p.R224C	PMEPA1_ENST00000395814.1_Missense_Mutation_p.R174C|PMEPA1_ENST00000347215.4_Missense_Mutation_p.R189C|PMEPA1_ENST00000395816.3_Missense_Mutation_p.R174C|PMEPA1_ENST00000265626.4_Missense_Mutation_p.R174C	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	224					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						CCCTCCATGCGCCCGCCGCTG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	18	17			NA	NA	20		NA											NA				56227303		2196	4295	6491	SO:0001583	missense			AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225	56937	56937			14107	protein-coding gene	gene with protein product	solid tumor-associated 1	606564	transmembrane, prostate androgen induced RNA	TMEPAI	NA	10873380	Standard	NM_020182	NM_020182	NA	Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.670C>T	20.37:g.56227303G>A	ENSP00000345826:p.Arg224Cys	NA	Q5TDR6|Q96B72|Q9UJD3	37	CCDS13463.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208425	0.79240	.	.	ENSG00000124225	ENST00000341744;ENST00000347215;ENST00000395816;ENST00000265626;ENST00000395814;ENST00000414037	T;T;T;T;T;T	0.55760	0.5;0.55;0.55;0.55;0.55;0.58	5.47	4.45	0.53987	.	0.000000	0.64402	D	0.000001	T	0.70570	0.3239	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.74016	-0.3800	10	0.87932	D	0	-47.2292	12.9373	0.58322	0.0:0.0:0.7534:0.2465	.	189;224	Q5JY37;Q969W9	.;PMEPA_HUMAN	C	224;189;174;174;174;196	ENSP00000345826:R224C;ENSP00000344014:R189C;ENSP00000379161:R174C;ENSP00000265626:R174C;ENSP00000379159:R174C;ENSP00000401506:R196C	ENSP00000265626:R174C	R	-	1	0	PMEPA1	55660709	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	4.650000	0.61440	2.555000	0.86185	0.650000	0.86243	CGC	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079858.2		-	ENST00000341744.3	Missense_Mutation	SNP	20 : 56227303 - 56227303 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	167	28
SHROOM3	57619	broad.mit.edu	37	4	77631357	77631357	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77631357C>T	ENST00000296043.6	+	3	1325	c.372C>T	c.(370-372)ttC>ttT	p.F124F	SHROOM3_ENST00000473602.1_3'UTR	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	124					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCTCTAACTTCGTCAGCCCAG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	99	103			NA	NA	4		NA											NA				77631357		2203	4300	6503	SO:0001819	synonymous_variant			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771	57619	57619			30422	protein-coding gene	gene with protein product		604570			NA	10589677, 16615870	Standard	NM_020859	NM_020859	NA	Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.372C>T	4.37:g.77631357C>T		NA	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	37	CCDS3579.2																																																																																			SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252408.2		+	ENST00000296043.6	Silent	SNP	4 : 77631357 - 77631357 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	478	93
COMMD6	170622	broad.mit.edu	37	13	76104365	76104365	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:76104365C>T	ENST00000377619.5	-	2	274	c.137G>A	c.(136-138)aGc>aAc	p.S46N	COMMD6_ENST00000355801.4_Missense_Mutation_p.S31N|COMMD6_ENST00000377615.3_Missense_Mutation_p.S31N|COMMD6_ENST00000460675.1_5'UTR|COMMD6_ENST00000406936.3_Missense_Mutation_p.S31N			Q7Z4G1	COMD6_HUMAN	COMM domain containing 6	31	COMM.					cytoplasm|nucleus	protein binding			breast(1)|lung(1)|urinary_tract(1)	3		Breast(118;0.0979)|Prostate(6;0.122)		GBM - Glioblastoma multiforme(99;0.0104)		AGTGTCTGAGCTCACAGCCAT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	88	90			NA	NA	13		NA											NA				76104365		2203	4300	6503	SO:0001583	missense			AY542161	CCDS9451.1, CCDS9452.1	13q22	2004-02-18			ENSG00000188243	ENSG00000188243	170622	170622			24015	protein-coding gene	gene with protein product		612377			NA	15799966	Standard	XM_085023	NM_203497	NA	Approved	Acrg	uc001vjn.1	Q7Z4G1	OTTHUMG00000017089	ENST00000377619.5:c.137G>A	13.37:g.76104365C>T	ENSP00000366845:p.Ser46Asn	NA	A6NF28|B7ZLN0|Q5TBK4	37		.	.	.	.	.	.	.	.	.	.	C	24.6	4.545648	0.86022	.	.	ENSG00000188243	ENST00000406936;ENST00000377615;ENST00000377619;ENST00000355801	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	5.09	5.09	0.68999	COMM domain (1);	0.040721	0.85682	D	0.000000	T	0.38852	0.1056	.	.	.	0.58432	D	0.999999	D;D	0.64830	0.994;0.993	D;D	0.66716	0.946;0.91	T	0.22068	-1.0227	9	0.72032	D	0.01	.	18.4553	0.90718	0.0:1.0:0.0:0.0	.	31;31	Q7Z4G1;Q7Z4G1-2	COMD6_HUMAN;.	N	31;31;46;31	ENSP00000385660:S31N;ENSP00000366841:S31N;ENSP00000366845:S46N;ENSP00000348054:S31N	ENSP00000348054:S31N	S	-	2	0	COMMD6	75002366	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.591000	0.67536	2.525000	0.85131	0.655000	0.94253	AGC	COMMD6-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000045290.2		-	ENST00000377619.5	Missense_Mutation	SNP	13 : 76104365 - 76104365 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	462	20
OBSCN	84033	broad.mit.edu	37	1	228469832	228469832	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228469832C>A	ENST00000570156.2	+	36	9757	c.9683C>A	c.(9682-9684)gCt>gAt	p.A3228D	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A2799D|OBSCN_ENST00000359599.6_Missense_Mutation_p.A1646D|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.A2799D	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2262	Ig-like 32.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTCCGGGAGGCTGCACCAAGT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	40	38			NA	NA	1		NA											NA				228469832		2016	4176	6192	SO:0001583	missense			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358	84033	84033		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	15719	protein-coding gene	gene with protein product		608616			NA	11448995, 11814696	Standard	NM_052843	NM_001098623	NA	Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000570156.2:c.9683C>A	1.37:g.228469832C>A	ENSP00000455507:p.Ala3228Asp	NA	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	37	CCDS59204.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.741893	0.30865	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599;ENST00000366706;ENST00000366704	T;T;T	0.71103	-0.54;-0.54;-0.54	4.45	2.56	0.30785	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.192642	0.34676	N	0.003775	D	0.83339	0.5233	M	0.88570	2.965	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;P;D	0.80764	0.993;0.885;0.994	T	0.82165	-0.0592	10	0.66056	D	0.02	.	7.9133	0.29803	0.0:0.645:0.0:0.355	.	2799;2799;2799	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	D	2799;2799;1646;498;205	ENSP00000284548:A2799D;ENSP00000409493:A2799D;ENSP00000352613:A1646D	ENSP00000284548:A2799D	A	+	2	0	OBSCN	226536455	0.951000	0.32395	0.003000	0.11579	0.004000	0.04260	1.801000	0.38843	0.428000	0.26173	0.462000	0.41574	GCT	OBSCN-011	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421354.3		+	ENST00000570156.2	Missense_Mutation	SNP	1 : 228469832 - 228469832 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	167	14
LCA5	167691	broad.mit.edu	37	6	80198831	80198831	+	Missense_Mutation	SNP	C	C	T	rs141821682		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:80198831C>T	ENST00000392959.1	-	8	1812	c.1201G>A	c.(1201-1203)Gta>Ata	p.V401I	LCA5_ENST00000467898.3_Missense_Mutation_p.V401I|LCA5_ENST00000369846.4_Missense_Mutation_p.V401I	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	401					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TCCTGTTTTACGACATGGAGT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	167	160	162		1201,1201	0.6	0	6	dbSNP_134	162	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	LCA5	NM_001122769.2,NM_181714.3	29,29	0,3,6500	TT,TC,CC	NA	0.0233,0.0227,0.0231	benign,benign	401/698,401/698	80198831	3,13003	2203	4300	6503	SO:0001583	missense				CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338	167691	167691			31923	protein-coding gene	gene with protein product	lebercilin	611408	chromosome 6 open reading frame 152	C6orf152	NA	10631161, 17546029	Standard	NM_181714	NM_181714	NA	Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.1201G>A	6.37:g.80198831C>T	ENSP00000376686:p.Val401Ile	NA	E1P542|Q9BWX7	37	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	C	7.408	0.634144	0.14322	2.27E-4	2.33E-4	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.30714	1.52;1.52	5.29	0.64	0.17752	.	1.834740	0.02223	N	0.064199	T	0.10121	0.0248	L	0.46157	1.445	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.14062	-1.0486	10	0.33940	T	0.23	-1.0538	4.2696	0.10780	0.2156:0.3739:0.0:0.4106	.	401	Q86VQ0	LCA5_HUMAN	I	401	ENSP00000358861:V401I;ENSP00000376686:V401I	ENSP00000358861:V401I	V	-	1	0	LCA5	80255550	0.000000	0.05858	0.009000	0.14445	0.018000	0.09664	-0.074000	0.11450	0.115000	0.18071	-0.123000	0.14984	GTA	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000259269.1		-	ENST00000392959.1	Missense_Mutation	SNP	6 : 80198831 - 80198831 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	525	79
FAM53C	51307	broad.mit.edu	37	5	137681135	137681135	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137681135C>T	ENST00000239906.5	+	4	1186	c.758C>T	c.(757-759)gCa>gTa	p.A253V	FAM53C_ENST00000434981.2_Missense_Mutation_p.A253V|FAM53C_ENST00000513056.1_Missense_Mutation_p.H63Y|FAM53C_ENST00000507506.1_3'UTR	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	253										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AGCTCTCCCGCATCCTCCCCA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	60	56			NA	NA	5		NA											NA				137681135		2203	4300	6503	SO:0001583	missense			AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709	51307	51307			1336	protein-coding gene	gene with protein product		609372	chromosome 5 open reading frame 6	C5orf6	NA	11087669, 11161817	Standard	NM_016605	NM_001135647	NA	Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.758C>T	5.37:g.137681135C>T	ENSP00000239906:p.Ala253Val	NA	B2RDJ5|D3DQB9	37	CCDS4204.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.346|9.346	1.064224|1.064224	0.20067|0.20067	.|.	.|.	ENSG00000120709|ENSG00000120709	ENST00000434981;ENST00000239906|ENST00000513056	T;T|T	0.45668|0.50277	0.89;0.89|0.75	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.257566|.	0.40469|.	N|.	0.001100|.	T|T	0.46541|0.46541	0.1398|0.1398	L|L	0.47190|0.47190	1.495|1.495	0.29900|0.29900	N|N	0.824489|0.824489	B|P	0.33238|0.52692	0.403|0.955	B|B	0.22601|0.41088	0.04|0.347	T|T	0.54050|0.54050	-0.8351|-0.8351	10|9	0.66056|0.66056	D|D	0.02|0.02	-3.7722|-3.7722	18.4386|18.4386	0.90656|0.90656	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	253|63	Q9NYF3|D6RE00	FA53C_HUMAN|.	V|Y	253|63	ENSP00000403705:A253V;ENSP00000239906:A253V|ENSP00000425154:H63Y	ENSP00000239906:A253V|ENSP00000425154:H63Y	A|H	+|+	2|1	0|0	FAM53C|FAM53C	137709034|137709034	0.675000|0.675000	0.27558|0.27558	0.775000|0.775000	0.31657|0.31657	0.053000|0.053000	0.15095|0.15095	3.901000|3.901000	0.56303|0.56303	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GCA|CAT	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251278.2		+	ENST00000239906.5	Missense_Mutation	SNP	5 : 137681135 - 137681135 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	804	165
MAGI3	260425	broad.mit.edu	37	1	114215988	114215988	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114215988C>T	ENST00000307546.9	+	19	3165	c.3090C>T	c.(3088-3090)ggC>ggT	p.G1030G	MAGI3_ENST00000369611.4_Silent_p.G1030G|MAGI3_ENST00000369615.1_Silent_p.G1030G|MAGI3_ENST00000369617.4_Silent_p.G1055G	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1055					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCCCCGGGGCTTTGGATTCA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	85	82			NA	NA	1		NA											NA				114215988		2203	4300	6503	SO:0001819	synonymous_variant			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026	260425	260425			29647	protein-coding gene	gene with protein product		615943			NA	10997877, 10748157	Standard	NM_152900	NM_152900	NA	Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.3090C>T	1.37:g.114215988C>T		NA	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	37	CCDS44196.1																																																																																			MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032429.1		+	ENST00000307546.9	Silent	SNP	1 : 114215988 - 114215988 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	570	106
SYNGAP1	8831	broad.mit.edu	37	6	33399973	33399973	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33399973C>A	ENST00000418600.2	+	4	432	c.331C>A	c.(331-333)Cca>Aca	p.P111T	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.P52T|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.P111T|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	111					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GAAGAGTGTCCCAGGGGGGAA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	50	51			NA	NA	6		NA											NA				33399973		2203	4300	6503	SO:0001583	missense			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283	8831	8831			11497	protein-coding gene	gene with protein product		603384	synaptic Ras GTPase activating protein 1 homolog (rat)		NA	9581761, 18323856	Standard	XM_166407	NM_006772	NA	Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.331C>A	6.37:g.33399973C>A	ENSP00000403636:p.Pro111Thr	NA	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	37	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	C	12.72	2.022972	0.35701	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.17528	2.27;2.36;2.36	4.49	2.68	0.31781	Pleckstrin homology domain (1);	1.042200	0.07610	N	0.925251	T	0.06325	0.0163	L	0.52573	1.65	0.30470	N	0.773439	B;P;B	0.36535	0.421;0.557;0.016	B;B;B	0.29785	0.05;0.107;0.017	T	0.30238	-0.9985	10	0.87932	D	0	.	8.0326	0.30474	0.0:0.7472:0.1608:0.092	.	111;111;111	Q96PV0;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.	T	111;111;111;52	ENSP00000293748:P111T;ENSP00000403636:P111T;ENSP00000412475:P52T	ENSP00000293748:P111T	P	+	1	0	SYNGAP1	33507951	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	3.648000	0.54410	0.440000	0.26502	0.467000	0.42956	CCA	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076151.4		+	ENST00000418600.2	Missense_Mutation	SNP	6 : 33399973 - 33399973 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	280	38
ITGAE	3682	broad.mit.edu	37	17	3632827	3632827	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3632827C>A	ENST00000263087.4	-	24	2955	c.2857G>T	c.(2857-2859)Gcc>Tcc	p.A953S	ITGAE_ENST00000571185.1_Intron|CTD-3195I5.4_ENST00000575043.1_RNA	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	953					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GTCTCGTTGGCCAAAGACCGT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(182;635 2928 8995 38788)							NA				0													219	174	189			NA	NA	17		NA											NA				3632827		2203	4300	6503	SO:0001583	missense			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457	3682	3682		CD molecules, Integrins	6147	protein-coding gene	gene with protein product		604682			NA	8119947	Standard	NM_002208	NM_002208	NA	Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.2857G>T	17.37:g.3632827C>A	ENSP00000263087:p.Ala953Ser	NA	Q17RS6|Q9NZU9	37	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	C	7.423	0.637074	0.14386	.	.	ENSG00000083457	ENST00000263087	T	0.43294	0.95	4.19	3.17	0.36434	Integrin alpha-2 (1);	.	.	.	.	T	0.28333	0.0700	L	0.36672	1.1	0.09310	N	1	P	0.47191	0.891	B	0.40199	0.322	T	0.05007	-1.0912	9	0.09338	T	0.73	.	9.5334	0.39207	0.2294:0.7706:0.0:0.0	.	953	P38570	ITAE_HUMAN	S	953	ENSP00000263087:A953S	ENSP00000263087:A953S	A	-	1	0	ITGAE	3579576	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	0.818000	0.27295	1.261000	0.44149	0.655000	0.94253	GCC	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438169.1		-	ENST00000263087.4	Missense_Mutation	SNP	17 : 3632827 - 3632827 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	525	80
MOGS	7841	broad.mit.edu	37	2	74691694	74691694	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74691694T>C	ENST00000233616.4	-	2	670	c.508A>G	c.(508-510)Act>Gct	p.T170A	MOGS_ENST00000535045.1_Intron|MOGS_ENST00000462443.1_Intron|MOGS_ENST00000452063.2_Missense_Mutation_p.T64A|MOGS_ENST00000409065.1_Missense_Mutation_p.T170A	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	170					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						ACGAACTCAGTGGTGAGCCTT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	73	70			NA	NA	2		NA											NA				74691694		2008	4165	6173	SO:0001583	missense			X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	7841	7841	3.2.1.106		24862	protein-coding gene	gene with protein product	glucosidase I, processing A-glucosidase I	601336			NA	7635146, 8786151	Standard	NM_006302	NM_006302	NA	Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.508A>G	2.37:g.74691694T>C	ENSP00000233616:p.Thr170Ala	NA	A8K938|Q17RN9|Q8TCT5	37	CCDS42700.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.794219	0.90453	.	.	ENSG00000115275	ENST00000233616;ENST00000452063;ENST00000409065;ENST00000448666;ENST00000414701	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.60248	0.2254	M	0.82323	2.585	0.80722	D	1	P	0.48089	0.905	P	0.54401	0.751	T	0.64698	-0.6346	10	0.51188	T	0.08	-12.3794	13.3999	0.60876	0.0:0.0:0.0:1.0	.	170	Q13724	MOGS_HUMAN	A	170;64;170;64;51	ENSP00000233616:T170A;ENSP00000388201:T64A;ENSP00000386493:T170A;ENSP00000410992:T64A;ENSP00000396298:T51A	ENSP00000233616:T170A	T	-	1	0	MOGS	74545202	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.711000	0.74675	2.254000	0.74563	0.533000	0.62120	ACT	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328382.1		-	ENST00000233616.4	Missense_Mutation	SNP	2 : 74691694 - 74691694 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	635	103
SERPINE1	5054	broad.mit.edu	37	7	100777156	100777156	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100777156G>A	ENST00000445463.2	+	6	984	c.836G>A	c.(835-837)cGc>cAc	p.R279H	SERPINE1_ENST00000223095.4_Missense_Mutation_p.R294H			P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	294					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	AGGCTGCCCCGCCTCCTGGTT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	85	90			NA	NA	7		NA											NA				100777156		2203	4300	6503	SO:0001583	missense			M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366	5054	5054		Serine (or cysteine) peptidase inhibitors	8583	protein-coding gene	gene with protein product	plasminogen activator inhibitor, type I	173360	serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	PLANH1, PAI1	NA	3097076, 2891140, 24172014	Standard	NM_000602	NM_000602	NA	Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000445463.2:c.836G>A	7.37:g.100777156G>A	ENSP00000396766:p.Arg279His	NA		37		.	.	.	.	.	.	.	.	.	.	G	22.4	4.287680	0.80803	.	.	ENSG00000106366	ENST00000223095;ENST00000445463;ENST00000536888	T;T	0.21932	1.98;1.98	5.47	5.47	0.80525	Serpin domain (3);	0.061905	0.64402	D	0.000010	T	0.43233	0.1238	L	0.54323	1.7	0.48571	D	0.999676	D;D	0.89917	1.0;1.0	D;D	0.76575	0.977;0.988	T	0.14643	-1.0465	10	0.59425	D	0.04	.	17.1908	0.86879	0.0:0.0:1.0:0.0	.	279;294	F8WD53;P05121	.;PAI1_HUMAN	H	294;279;71	ENSP00000223095:R294H;ENSP00000396766:R279H	ENSP00000223095:R294H	R	+	2	0	SERPINE1	100563876	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.424000	0.66464	2.724000	0.93272	0.561000	0.74099	CGC	SERPINE1-201	KNOWN	basic|exp_conf	protein_coding	NA	protein_coding			+	ENST00000445463.2	Missense_Mutation	SNP	7 : 100777156 - 100777156 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	367	32
CSNK1D	1453	broad.mit.edu	37	17	80202665	80202665	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80202665G>A	ENST00000314028.6	-	9	1589	c.1240C>T	c.(1240-1242)Cac>Tac	p.H414Y	CSNK1D_ENST00000398519.5_Intron|CSNK1D_ENST00000392334.2_3'UTR	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	414					circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			TCTCATCGGTGCACGACAGAC	0.567		NA									OREG0024822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	87	97			NA	NA	17		NA											NA				80202665		2203	4300	6503	SO:0001583	missense				CCDS11805.1, CCDS11806.1	17q25	2013-01-17				ENSG00000141551	1453	1453			2452	protein-coding gene	gene with protein product		600864			NA	7797465	Standard	NM_139062	NM_001893	NA	Approved	HCKID, CKID, CKIdelta	uc002kej.3	P48730		ENST00000314028.6:c.1240C>T	17.37:g.80202665G>A	ENSP00000324464:p.His414Tyr	1196	A2I2P2|Q96KZ6|Q9BTN5	37	CCDS11805.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208789	0.58343	.	.	ENSG00000141551	ENST00000314028;ENST00000398519	T	0.61158	0.13	5.51	4.48	0.54585	.	0.473238	0.23896	N	0.043484	T	0.32615	0.0835	N	0.08118	0	0.80722	D	1	B	0.21821	0.061	B	0.15484	0.013	T	0.23084	-1.0198	10	0.02654	T	1	.	14.9006	0.70675	0.0:0.1436:0.8564:0.0	.	414	P48730	KC1D_HUMAN	Y	414;357	ENSP00000324464:H414Y	ENSP00000324464:H414Y	H	-	1	0	CSNK1D	77795954	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.153000	0.77428	2.605000	0.88082	0.655000	0.94253	CAC	CSNK1D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442632.1		-	ENST00000314028.6	Missense_Mutation	SNP	17 : 80202665 - 80202665 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	376	74
NCOR1	9611	broad.mit.edu	37	17	15989754	15989754	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15989754G>T	ENST00000268712.3	-	23	3276	c.3019C>A	c.(3019-3021)Ctt>Att	p.L1007I	NCOR1_ENST00000395851.1_Missense_Mutation_p.L1023I	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1007	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCAGGCTGAAGGACTTTTAAA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	63	63			NA	NA	17		NA											NA				15989754		2203	4300	6503	SO:0001583	missense			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027	9611	9611			7672	protein-coding gene	gene with protein product	thyroid hormone- and retinoic acid receptor-associated corepressor 1, protein phosphatase 1, regulatory subunit 109	600849	nuclear receptor co-repressor 1		NA	7566114, 9724795	Standard	NM_006311	NM_006311	NA	Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.3019C>A	17.37:g.15989754G>T	ENSP00000268712:p.Leu1007Ile	NA	B3DLF8|Q9UPV5|Q9UQ18	37	CCDS11175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.58|16.58	3.162501|3.162501	0.57368|0.57368	.|.	.|.	ENSG00000141027|ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849|ENST00000436068	D;D|.	0.85171|.	-1.95;-1.95|.	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.55940|0.55940	0.1952|0.1952	N|N	0.25647|0.25647	0.755|0.755	0.80722|0.80722	D|D	1|1	D;P;P|.	0.69078|.	0.997;0.629;0.745|.	D;B;P|.	0.72625|.	0.978;0.212;0.504|.	T|T	0.48559|0.48559	-0.9025|-0.9025	10|5	0.11485|.	T|.	0.65|.	-7.6952|-7.6952	17.5022|17.5022	0.87735|0.87735	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	914;1007;1023|.	Q7Z516;O75376;O75376-2|.	.;NCOR1_HUMAN;.|.	I|H	1007;1023;914|78	ENSP00000268712:L1007I;ENSP00000379192:L1023I|.	ENSP00000268712:L1007I|.	L|P	-|-	1|2	0|0	NCOR1|NCOR1	15930479|15930479	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.833000|0.833000	0.47200|0.47200	5.911000|5.911000	0.69939|0.69939	2.816000|2.816000	0.96949|0.96949	0.644000|0.644000	0.83932|0.83932	CTT|CCT	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131751.5		-	ENST00000268712.3	Missense_Mutation	SNP	17 : 15989754 - 15989754 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	247	58
EIF4G3	8672	broad.mit.edu	37	1	21268212	21268212	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21268212C>T	ENST00000602326.1	-	12	1868	c.1285G>A	c.(1285-1287)Gct>Act	p.A429T	EIF4G3_ENST00000536266.1_Missense_Mutation_p.A27T|EIF4G3_ENST00000264211.8_Missense_Mutation_p.A423T|EIF4G3_ENST00000356916.3_Missense_Mutation_p.A434T|EIF4G3_ENST00000400422.1_Missense_Mutation_p.A423T|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000374937.3_Missense_Mutation_p.A429T|EIF4G3_ENST00000374927.4_Missense_Mutation_p.A423T	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	423					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ggaggagaagctggaggagtt	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	98	100			NA	NA	1		NA											NA				21268212		2203	4300	6503	SO:0001583	missense			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151	8672	8672			3298	protein-coding gene	gene with protein product		603929			NA	9418880	Standard	NM_003760	NM_001198801	NA	Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000602326.1:c.1285G>A	1.37:g.21268212C>T	ENSP00000473510:p.Ala429Thr	NA	Q15597|Q5SWC3|Q8NEN1	37	CCDS55580.1	.	.	.	.	.	.	.	.	.	.	C	5.342	0.248320	0.10130	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374937;ENST00000536266;ENST00000356916;ENST00000374927;ENST00000537059	T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97	5.62	2.7	0.31948	.	0.540393	0.20858	N	0.084418	T	0.09686	0.0238	N	0.08118	0	0.18873	N	0.999989	B;B;B;B;B;B	0.12013	0.005;0.003;0.003;0.001;0.0;0.001	B;B;B;B;B;B	0.12156	0.007;0.005;0.004;0.003;0.001;0.001	T	0.33879	-0.9851	10	0.24483	T	0.36	-1.3839	8.2271	0.31575	0.0:0.6398:0.1419:0.2183	.	423;618;549;27;429;423	B4DXR2;Q59GJ0;B1AN89;F5H564;B9EGQ7;O43432	.;.;.;.;.;IF4G3_HUMAN	T	423;619;423;429;27;549;423;434	ENSP00000264211:A423T;ENSP00000383274:A423T;ENSP00000364073:A429T;ENSP00000444693:A27T;ENSP00000364062:A423T	ENSP00000264211:A423T	A	-	1	0	EIF4G3	21140799	0.105000	0.21958	0.808000	0.32385	0.663000	0.39108	0.121000	0.15667	0.045000	0.15804	-0.797000	0.03246	GCT	EIF4G3-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000467634.1		-	ENST00000602326.1	Missense_Mutation	SNP	1 : 21268212 - 21268212 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	416	58
COL5A1	1289	broad.mit.edu	37	9	137630649	137630649	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137630649G>T	ENST00000371817.3	+	11	1903	c.1489G>T	c.(1489-1491)Gaa>Taa	p.E497*		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	497	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGACCCTGGAGAAAGGGTAAG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	76	76			NA	NA	9		NA											NA				137630649		2203	4300	6503	SO:0001587	stop_gained			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635	1289	1289		Collagens	2209	protein-coding gene	gene with protein product	alpha 1 type V collagen	120215			NA	1572660	Standard	NM_000093	NM_001278074	NA	Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1489G>T	9.37:g.137630649G>T	ENSP00000360882:p.Glu497*	NA	Q15094|Q5SUX4	37	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	43	10.520879	0.99420	.	.	ENSG00000130635	ENST00000371817	.	.	.	4.69	4.69	0.59074	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	16.3829	0.83481	0.0:0.0:1.0:0.0	.	.	.	.	X	497	.	ENSP00000360882:E497X	E	+	1	0	COL5A1	136770470	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.337000	0.72958	2.166000	0.68216	0.491000	0.48974	GAA	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054954.2		+	ENST00000371817.3	Nonsense_Mutation	SNP	9 : 137630649 - 137630649 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	523	74
MTOR	2475	broad.mit.edu	37	1	11270930	11270930	+	Missense_Mutation	SNP	G	G	T	rs139709356	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11270930G>T	ENST00000361445.4	-	24	3671	c.3595C>A	c.(3595-3597)Ctg>Atg	p.L1199M		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1199					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TGTCGCACCAGAACTTTATTC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	83	86			NA	NA	1		NA											NA				11270930		2203	4300	6503	SO:0001583	missense			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793	2475	2475			3942	protein-coding gene	gene with protein product	FK506 binding protein 12-rapamycin associated protein 2, rapamycin target protein, FKBP12-rapamycin complex-associated protein 1, FKBP-rapamycin associated protein, rapamycin associated protein FRAP2, dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1), rapamycin and FKBP12 target 1, mammalian target of rapamycin	601231	FK506 binding protein 12-rapamycin associated protein 1	FRAP, FRAP2, FRAP1	NA	8008069, 8660990	Standard	NM_004958	NM_004958	NA	Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.3595C>A	1.37:g.11270930G>T	ENSP00000354558:p.Leu1199Met	NA	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784378	0.31593	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.74737	-0.87	6.06	6.06	0.98353	Armadillo-like helical (1);Armadillo-type fold (1);	0.126361	0.52532	D	0.000065	T	0.61185	0.2327	N	0.25789	0.76	0.80722	D	1	B	0.09022	0.002	B	0.12837	0.008	T	0.55166	-0.8183	10	0.32370	T	0.25	-12.831	10.8679	0.46866	0.1389:0.0:0.8611:0.0	.	1199	P42345	MTOR_HUMAN	M	1199	ENSP00000354558:L1199M	ENSP00000354558:L1199M	L	-	1	2	MTOR	11193517	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	3.317000	0.51968	2.882000	0.98803	0.655000	0.94253	CTG	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005558.1		-	ENST00000361445.4	Missense_Mutation	SNP	1 : 11270930 - 11270930 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	57
C20orf96	140680	broad.mit.edu	37	20	259966	259966	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:259966C>T	ENST00000360321.2	-	5	450	c.312G>A	c.(310-312)tcG>tcA	p.S104S	C20orf96_ENST00000400269.3_Silent_p.S46S|C20orf96_ENST00000382369.5_Silent_p.S69S	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	104										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CGCTCCTGAGCGAGGTCTGCG	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	46	50			NA	NA	20		NA											NA				259966		2203	4300	6503	SO:0001819	synonymous_variant			AL034548	CCDS12994.1, CCDS74685.1	20p13	2012-10-30			ENSG00000196476	ENSG00000196476	140680	140680			16227	protein-coding gene	gene with protein product					NA		Standard	NM_153269	NM_153269	NA	Approved	dJ1103G7.2	uc002wde.2	Q9NUD7	OTTHUMG00000031626	ENST00000360321.2:c.312G>A	20.37:g.259966C>T		NA	A3KPE0|B2RPH9|Q8N840|Q8NAX5	37	CCDS12994.1																																																																																			C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077439.2		-	ENST00000360321.2	Silent	SNP	20 : 259966 - 259966 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	286	49
MFSD9	84804	broad.mit.edu	37	2	103353247	103353247	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103353247T>C	ENST00000258436.5	-	1	66	c.23A>G	c.(22-24)gAc>gGc	p.D8G		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	8					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						CGAGTTCATGTCCCAGTGACC	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	30	28			NA	NA	2		NA											NA				103353247		2203	4299	6502	SO:0001583	missense				CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953	84804	84804			28158	protein-coding gene	gene with protein product					NA		Standard	NM_032718	NM_032718	NA	Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.23A>G	2.37:g.103353247T>C	ENSP00000258436:p.Asp8Gly	NA	Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	37	CCDS2063.1	.	.	.	.	.	.	.	.	.	.	T	2.866	-0.235011	0.05983	.	.	ENSG00000135953	ENST00000258436	T	0.64991	-0.13	4.24	-4.59	0.03400	.	1.454500	0.04609	N	0.399982	T	0.30135	0.0755	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18209	-1.0344	10	0.08381	T	0.77	-4.4032	3.5159	0.07725	0.4053:0.2354:0.0:0.3594	.	8	Q8NBP5	MFSD9_HUMAN	G	8	ENSP00000258436:D8G	ENSP00000258436:D8G	D	-	2	0	MFSD9	102719679	0.312000	0.24545	0.000000	0.03702	0.002000	0.02628	0.000000	0.12993	-0.778000	0.04566	-1.589000	0.00846	GAC	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253295.2		-	ENST00000258436.5	Missense_Mutation	SNP	2 : 103353247 - 103353247 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	31
DSG1	1828	broad.mit.edu	37	18	28935055	28935055	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28935055G>T	ENST00000257192.4	+	15	3108	c.2896G>T	c.(2896-2898)Ggc>Tgc	p.G966C	RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.G325C	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	966					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGGAATTAGTGGCACCACTGG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	154	156			NA	NA	18		NA											NA				28935055		2203	4300	6503	SO:0001583	missense			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760	1828	1828		Cadherins / Major cadherins	3048	protein-coding gene	gene with protein product		125670		DSG	NA	1889810	Standard	NM_001942	NM_001942	NA	Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.2896G>T	18.37:g.28935055G>T	ENSP00000257192:p.Gly966Cys	NA		37	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	G	1.269	-0.613598	0.03690	.	.	ENSG00000134760	ENST00000257192	T	0.60299	0.2	6.11	4.32	0.51571	.	0.000000	0.53938	D	0.000054	T	0.51210	0.1661	N	0.08118	0	0.25503	N	0.987539	D	0.76494	0.999	D	0.62955	0.909	T	0.43343	-0.9397	10	0.62326	D	0.03	.	8.8549	0.35223	0.2249:0.0:0.7751:0.0	.	966	Q02413	DSG1_HUMAN	C	966	ENSP00000257192:G966C	ENSP00000257192:G966C	G	+	1	0	DSG1	27189053	0.984000	0.35163	0.114000	0.21550	0.003000	0.03518	1.520000	0.35899	1.600000	0.50102	0.655000	0.94253	GGC	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254947.1		+	ENST00000257192.4	Missense_Mutation	SNP	18 : 28935055 - 28935055 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	927	170
TEKT1	83659	broad.mit.edu	37	17	6704113	6704113	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6704113T>G	ENST00000338694.2	-	7	1131	c.1002A>C	c.(1000-1002)caA>caC	p.Q334H	TEKT1_ENST00000535086.1_Missense_Mutation_p.Q188H	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	334					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TTAGCCTATATTGTGCGACAT	0.572		NA									OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													225	202	210			NA	NA	17		NA											NA				6704113		2203	4300	6503	SO:0001583	missense				CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858	83659	83659			15534	protein-coding gene	gene with protein product		609002			NA	11606253	Standard	NM_053285	NM_053285	NA	Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.1002A>C	17.37:g.6704113T>G	ENSP00000341346:p.Gln334His	636	D3DTM7	37	CCDS11083.1	.	.	.	.	.	.	.	.	.	.	T	11.54	1.667815	0.29604	.	.	ENSG00000167858	ENST00000338694;ENST00000535086	T;T	0.03772	3.81;3.81	5.85	2.82	0.32997	.	0.000000	0.85682	D	0.000000	T	0.08582	0.0213	M	0.69248	2.105	0.51233	D	0.99991	B	0.23990	0.095	B	0.34873	0.191	T	0.09207	-1.0685	10	0.34782	T	0.22	.	10.0039	0.41946	0.0:0.778:0.0:0.222	.	334	Q969V4	TEKT1_HUMAN	H	334;188	ENSP00000341346:Q334H;ENSP00000444142:Q188H	ENSP00000341346:Q334H	Q	-	3	2	TEKT1	6644837	0.835000	0.29415	0.781000	0.31783	0.005000	0.04900	0.516000	0.22817	0.495000	0.27882	-0.789000	0.03336	CAA	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219867.2		-	ENST00000338694.2	Missense_Mutation	SNP	17 : 6704113 - 6704113 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	947	170
UTRN	7402	broad.mit.edu	37	6	144768443	144768443	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144768443C>T	ENST00000367545.3	+	14	1711	c.1711C>T	c.(1711-1713)Cga>Tga	p.R571*		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	571	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.R571*(2)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGTCAGTGTTCGACGTCTGGC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Nonsense(2)	large_intestine(1)|breast(1)											118	104	109			NA	NA	6		NA											NA				144768443		2203	4300	6503	SO:0001587	stop_gained			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818	7402	7402			12635	protein-coding gene	gene with protein product		128240	utrophin (homologous to dystrophin)	DMDL	NA	1426262	Standard		NM_007124	NA	Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.1711C>T	6.37:g.144768443C>T	ENSP00000356515:p.Arg571*	NA	Q5SZ57	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	C	38	7.240768	0.98157	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	.	.	.	5.85	4.98	0.66077	.	0.000000	0.44902	D	0.000415	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7217	0.40306	0.1401:0.7897:0.0:0.0702	.	.	.	.	X	571	.	ENSP00000356499:R571X	R	+	1	2	UTRN	144810136	1.000000	0.71417	0.110000	0.21437	0.686000	0.39977	4.662000	0.61525	1.470000	0.48102	0.561000	0.74099	CGA	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042551.1		+	ENST00000367545.3	Nonsense_Mutation	SNP	6 : 144768443 - 144768443 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	140	17
CCDC62	84660	broad.mit.edu	37	12	123265728	123265728	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123265728A>G	ENST00000253079.6	+	3	591	c.247A>G	c.(247-249)Act>Gct	p.T83A	CCDC62_ENST00000392441.4_Missense_Mutation_p.T83A|CCDC62_ENST00000537566.1_5'UTR	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	83						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		ACATAAAAGAACTGAAATAAT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	82	84			NA	NA	12		NA											NA				123265728		2203	4300	6503	SO:0001583	missense				CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783	84660	84660			30723	protein-coding gene	gene with protein product	cancer/testis antigen 109	613481			NA	18563714, 19126643	Standard	NM_032573	NM_201435	NA	Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.247A>G	12.37:g.123265728A>G	ENSP00000253079:p.Thr83Ala	NA	A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	37	CCDS9238.1	.	.	.	.	.	.	.	.	.	.	A	16.85	3.236661	0.58886	.	.	ENSG00000130783	ENST00000253079;ENST00000392441	T;T	0.30714	1.52;1.52	5.5	4.33	0.51752	.	0.307141	0.28499	N	0.015125	T	0.21801	0.0525	L	0.41236	1.265	0.80722	D	1	B;P	0.37207	0.4;0.587	B;B	0.36464	0.173;0.225	T	0.02603	-1.1135	10	0.09084	T	0.74	-10.1062	9.9655	0.41721	0.8481:0.0:0.0:0.1519	.	83;83	Q6P9F0-2;Q6P9F0	.;CCD62_HUMAN	A	83	ENSP00000253079:T83A;ENSP00000376236:T83A	ENSP00000253079:T83A	T	+	1	0	CCDC62	121831681	1.000000	0.71417	0.992000	0.48379	0.971000	0.66376	4.664000	0.61540	0.891000	0.36235	0.528000	0.53228	ACT	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400930.1		+	ENST00000253079.6	Missense_Mutation	SNP	12 : 123265728 - 123265728 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	66
DROSHA	29102	broad.mit.edu	37	5	31486629	31486629	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:31486629G>A	ENST00000511367.2	-	13	2127	c.1883C>T	c.(1882-1884)aCg>aTg	p.T628M	DROSHA_ENST00000344624.3_Missense_Mutation_p.T628M|DROSHA_ENST00000513349.1_Missense_Mutation_p.T591M|DROSHA_ENST00000442743.1_Missense_Mutation_p.T591M	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	628	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GAAATGAATCGTGTAGTCTAT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	133	132			NA	NA	5		NA											NA				31486629		1942	4152	6094	SO:0001583	missense			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	29102	29102	3.1.26.3		17904	protein-coding gene	gene with protein product	drosha, ribonuclease type III, drosha, double-stranded RNA-specific endoribonuclease	608828	ribonuclease type III, nuclear	RNASEN	NA	10713462, 10948199	Standard	NM_013235	NM_013235	NA	Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.1883C>T	5.37:g.31486629G>A	ENSP00000425979:p.Thr628Met	NA	Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	37	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261408	0.80358	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.56426	0.1984	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.64595	0.927;0.893	T	0.56823	-0.7915	10	0.87932	D	0	-15.8364	19.8331	0.96643	0.0:0.0:1.0:0.0	.	591;628	E7EMP9;Q9NRR4	.;RNC_HUMAN	M	628;628;591;591;553;584	ENSP00000425979:T628M;ENSP00000339845:T628M;ENSP00000409335:T591M;ENSP00000424161:T591M	ENSP00000265075:T553M	T	-	2	0	DROSHA	31522386	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.307000	0.89964	2.779000	0.95612	0.650000	0.86243	ACG	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366561.3		-	ENST00000511367.2	Missense_Mutation	SNP	5 : 31486629 - 31486629 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	57
FREM2	341640	broad.mit.edu	37	13	39450468	39450468	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39450468C>T	ENST00000280481.7	+	20	8709	c.8493C>T	c.(8491-8493)acC>acT	p.T2831T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2831					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGCCAGTCACCTGCAACCCCA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	105	112			NA	NA	13		NA											NA				39450468		2203	4300	6503	SO:0001819	synonymous_variant			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893	341640	341640			25396	protein-coding gene	gene with protein product		608945			NA	15345741	Standard	NM_207361	NM_207361	NA	Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8493C>T	13.37:g.39450468C>T		NA	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	37	CCDS31960.1																																																																																			FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044599.2		+	ENST00000280481.7	Silent	SNP	13 : 39450468 - 39450468 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	468	83
NCKAP5L	57701	broad.mit.edu	37	12	50188802	50188802	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50188802G>A	ENST00000335999.6	-	8	3042	c.2841C>T	c.(2839-2841)ggC>ggT	p.G947G		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	943										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GGAGCGGGGAGCCCCCGCCAG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	14	14			NA	NA	12		NA											NA				50188802		1927	4113	6040	SO:0001819	synonymous_variant			AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566	57701	57701			29321	protein-coding gene	gene with protein product		615104	KIAA1602	KIAA1602	NA		Standard	XM_035497	NM_001037806	NA	Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.2841C>T	12.37:g.50188802G>A		NA	Q2TB26|Q71RH1|Q8N4W1|Q96HX2	37	CCDS41781.2	.	.	.	.	.	.	.	.	.	.	G	4.167	0.029544	0.08054	.	.	ENSG00000167566	ENST00000433948	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	T	0.63355	0.2504	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61088	-0.7133	4	.	.	.	-18.2225	11.476	0.50297	0.0845:0.0:0.9155:0.0	.	.	.	.	F	662	.	.	L	-	1	0	NCKAP5L	48475069	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	2.512000	0.45485	2.619000	0.88677	0.462000	0.41574	CTC	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346884.2		-	ENST00000335999.6	Silent	SNP	12 : 50188802 - 50188802 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	64	15
PCDHGA6	56109	broad.mit.edu	37	5	140754632	140754632	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140754632C>T	ENST00000517434.1	+	1	982	c.982C>T	c.(982-984)Cga>Tga	p.R328*	PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			protocadherin gamma subfamily A, 6	NA										breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAGGTCTTCGAGACAGAGC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	156	154			NA	NA	5		NA											NA				140754632		1875	4098	5973	SO:0001587	stop_gained			AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731	56109	56109		Cadherins / Protocadherins : Clustered	8704	other	protocadherin		606293			NA	10380929	Standard	NM_018919	NM_018919	NA	Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.982C>T	5.37:g.140754632C>T	ENSP00000429601:p.Arg328*	NA		37	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	19.12	3.764994	0.69878	.	.	ENSG00000253731	ENST00000517434	.	.	.	5.25	1.19	0.21007	.	3.053800	0.03411	U	0.204832	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	3.5292	0.07770	0.5634:0.2093:0.1253:0.102	.	.	.	.	X	328	.	ENSP00000429601:R328X	R	+	1	2	PCDHGA6	140734816	0.000000	0.05858	0.582000	0.28627	0.675000	0.39556	-0.383000	0.07398	0.355000	0.24131	0.655000	0.94253	CGA	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374743.1		+	ENST00000517434.1	Nonsense_Mutation	SNP	5 : 140754632 - 140754632 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	951	155
STX8	9482	broad.mit.edu	37	17	9471724	9471724	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9471724T>C	ENST00000573373.1	-	0	92				STX8_ENST00000306357.4_Silent_p.R27R|STX8_ENST00000574431.1_Intron			Q9UNK0	STX8_HUMAN	syntaxin 8	NA					transport	endoplasmic reticulum|integral to plasma membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						CATATTGATTTCGTTGTTGAA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	136	149			NA	NA	17		NA											NA				9471724		2203	4300	6503	SO:0001623	5_prime_UTR_variant			AF115323	CCDS32565.1	17p13.1	2012-05-25			ENSG00000170310	ENSG00000170310	9482	9482			11443	protein-coding gene	gene with protein product		604203			NA	9852078, 10198254	Standard	NM_004853	NM_004853	NA	Approved	CARB	uc002glx.3	Q9UNK0	OTTHUMG00000177844	ENST00000573373.1:c.-557A>G	17.37:g.9471724T>C		NA	O60712|Q53XT8	37																																																																																				STX8-002	KNOWN	NMD_likely_if_extended|basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000439211.2		-	ENST00000573373.1	5'UTR	SNP	17 : 9471724 - 9471724 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	95	12
CIZ1	25792	broad.mit.edu	37	9	130942771	130942771	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130942771G>A	ENST00000393608.1	-	7	916	c.714C>T	c.(712-714)atC>atT	p.I238I	CIZ1_ENST00000372948.3_Silent_p.I238I|CIZ1_ENST00000541172.1_Silent_p.I137I|CIZ1_ENST00000277465.4_Silent_p.I238I|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000357558.5_Silent_p.I238I|CIZ1_ENST00000325721.8_Silent_p.I209I|CIZ1_ENST00000372938.5_Silent_p.I238I|CIZ1_ENST00000538431.1_Silent_p.I238I|CIZ1_ENST00000372954.1_Silent_p.I214I	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	238						nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						TTTCCTTGGCGATGTCCTCTG	0.547		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	256	215	229		714,714,699,642,714	0.3	0	9		229	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CIZ1	NM_001131015.1,NM_001131016.1,NM_001131017.1,NM_001131018.1,NM_012127.2	,,,,	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	,,,,	238/843,238/899,233/838,214/819,238/899	130942771	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337	25792	25792			16744	protein-coding gene	gene with protein product		611420			NA	10529385	Standard	NM_012127	NM_001131015	NA	Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.714C>T	9.37:g.130942771G>A		NA	A8K9J8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	37	CCDS6894.1																																																																																			CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054399.1		-	ENST00000393608.1	Silent	SNP	9 : 130942771 - 130942771 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	704	113
PRSS35	167681	broad.mit.edu	37	6	84234319	84234319	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84234319G>A	ENST00000369700.3	+	2	1336	c.1159G>A	c.(1159-1161)Gtt>Att	p.V387I	PRSS35_ENST00000536636.1_Missense_Mutation_p.V387I	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	387	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GGACTACAACGTTGCTGTTCG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	73	57	63		1159,1159	5.9	1	6		63	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PRSS35	NM_001170423.1,NM_153362.2	29,29	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging	387/414,387/414	84234319	1,13005	2203	4300	6503	SO:0001583	missense			BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250	167681	167681		Serine peptidases / Serine peptidases	21387	protein-coding gene	gene with protein product			chromosome 6 open reading frame 158	C6orf158	NA		Standard	NM_153362	NM_153362	NA	Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.1159G>A	6.37:g.84234319G>A	ENSP00000358714:p.Val387Ile	NA	A8K7B3|Q9BQP6	37	CCDS4999.1	.	.	.	.	.	.	.	.	.	.	G	33	5.210808	0.95069	0.0	1.16E-4	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.47177	0.85;0.85	5.91	5.91	0.95273	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.85682	D	0.000000	T	0.64638	0.2616	M	0.69185	2.1	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.65113	-0.6247	10	0.72032	D	0.01	-20.4384	20.2946	0.98546	0.0:0.0:1.0:0.0	.	387	Q8N3Z0	PRS35_HUMAN	I	387	ENSP00000440870:V387I;ENSP00000358714:V387I	ENSP00000358714:V387I	V	+	1	0	PRSS35	84291038	1.000000	0.71417	0.999000	0.59377	0.937000	0.57800	9.476000	0.97823	2.804000	0.96469	0.462000	0.41574	GTT	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041352.1		+	ENST00000369700.3	Missense_Mutation	SNP	6 : 84234319 - 84234319 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	299	56
CELF2	10659	broad.mit.edu	37	10	11312657	11312657	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11312657T>C	ENST00000315874.4	+	7	861	c.554T>C	c.(553-555)tTt>tCt	p.F185S	CELF2_ENST00000354897.3_Missense_Mutation_p.F185S|CELF2_ENST00000399850.3_Missense_Mutation_p.F185S|CELF2_ENST00000379261.4_Missense_Mutation_p.F209S|CELF2_ENST00000354440.2_Missense_Mutation_p.F185S|CELF2_ENST00000417956.2_Missense_Mutation_p.F185S|CELF2_ENST00000608830.1_Missense_Mutation_p.F185S|CELF2_ENST00000609692.1_Missense_Mutation_p.F185S|CELF2_ENST00000542579.1_Missense_Mutation_p.F216S|CELF2_ENST00000416382.2_Missense_Mutation_p.F209S|CELF2_ENST00000537122.1_Missense_Mutation_p.F98S|CELF2_ENST00000450189.1_Missense_Mutation_p.F216S|CELF2_ENST00000427450.1_Missense_Mutation_p.F185S	NM_001025076.2|NM_001083591.1	NP_001020247.1|NP_001077060.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	NA	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						GTGGTGAAGTTTGCTGACACT	0.582		NA									OREG0020007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	50	48			NA	NA	10		NA											NA				11312657		2065	4225	6290	SO:0001583	missense			U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740	10659	10659		RNA binding motif (RRM) containing	2550	protein-coding gene	gene with protein product		602538	CUG triplet repeat, RNA-binding protein 2, CUG triplet repeat, RNA binding protein 2	CUGBP2	NA	7869393, 9887331	Standard		NM_006561	NA	Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000315874.4:c.554T>C	10.37:g.11312657T>C	ENSP00000315328:p.Phe185Ser	671	B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	37	CCDS41488.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.222595	0.79464	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450;ENST00000537122;ENST00000538632	T;T;T;T;T;T;T;T;T;T	0.06371	3.31;3.31;3.31;3.31;3.31;3.31;3.31;3.31;3.31;3.31	5.7	5.7	0.88788	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.29716	0.0742	M	0.84511	2.7	0.80722	D	1	D;D;D;D;D;D	0.76494	0.992;0.992;0.99;0.999;0.997;0.992	P;P;P;D;D;P	0.80764	0.729;0.799;0.66;0.994;0.945;0.799	T	0.06463	-1.0825	10	0.87932	D	0	-11.1953	15.9599	0.79923	0.0:0.0:0.0:1.0	.	193;209;204;216;204;209	B4DDE7;B4DS31;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;.;CELF2_HUMAN	S	209;209;216;216;185;185;185;185;185;185;98;15	ENSP00000368563:F209S;ENSP00000406451:F209S;ENSP00000389951:F216S;ENSP00000443926:F216S;ENSP00000382743:F185S;ENSP00000404834:F185S;ENSP00000315328:F185S;ENSP00000346426:F185S;ENSP00000388530:F185S;ENSP00000438884:F98S	ENSP00000315328:F185S	F	+	2	0	CELF2	11352663	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	7.988000	0.88194	2.153000	0.67306	0.533000	0.62120	TTT	CELF2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046758.2		+	ENST00000315874.4	Missense_Mutation	SNP	10 : 11312657 - 11312657 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	63
CLASRP	11129	broad.mit.edu	37	19	45563854	45563854	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45563854C>T	ENST00000544944.2	+	9	1524	c.832C>T	c.(832-834)Cgg>Tgg	p.R278W	CLASRP_ENST00000221455.3_Missense_Mutation_p.R278W|CLASRP_ENST00000391953.4_Missense_Mutation_p.R216W			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	278					mRNA processing|RNA splicing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						TCGGGAGAAGCGGCTGAGGGG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	26	25			NA	NA	19		NA											NA				45563854		2203	4300	6503	SO:0001583	missense			AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859	11129	11129			17731	protein-coding gene	gene with protein product	Clk4 associating SR-related protein		splicing factor, arginine/serine-rich 16	SFRS16	NA	12169693	Standard	NM_007056	NM_007056	NA	Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000544944.2:c.832C>T	19.37:g.45563854C>T	ENSP00000438702:p.Arg278Trp	NA	O96026|Q6UW71|Q96DX2	37		.	.	.	.	.	.	.	.	.	.	C	18.27	3.587263	0.66105	.	.	ENSG00000104859	ENST00000221455;ENST00000391952;ENST00000391953;ENST00000544944	T;T;T;T	0.60299	0.97;0.94;0.2;0.91	4.5	3.41	0.39046	.	0.000000	0.32719	U	0.005738	T	0.68696	0.3029	M	0.62723	1.935	0.49051	D	0.999747	D;D;D	0.89917	1.0;1.0;1.0	P;D;P	0.65010	0.858;0.931;0.854	T	0.72121	-0.4386	10	0.87932	D	0	-14.7167	11.4395	0.50088	0.1912:0.8088:0.0:0.0	.	216;278;278	F8WAG9;F5H0Q6;Q8N2M8	.;.;CLASR_HUMAN	W	278;278;216;278	ENSP00000221455:R278W;ENSP00000375814:R278W;ENSP00000375815:R216W;ENSP00000438702:R278W	ENSP00000221455:R278W	R	+	1	2	CLASRP	50255694	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.037000	0.30241	2.340000	0.79590	0.563000	0.77884	CGG	CLASRP-004	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000453285.1		+	ENST00000544944.2	Missense_Mutation	SNP	19 : 45563854 - 45563854 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	128	11
HECW1	23072	broad.mit.edu	37	7	43484384	43484384	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43484384C>A	ENST00000453890.1	+	10	1937	c.1613C>A	c.(1612-1614)cCt>cAt	p.P538H	HECW1_ENST00000395891.2_Missense_Mutation_p.P538H			Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	538					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGCTCCTTGCCTGTGTCCGAG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	47	44			NA	NA	7		NA											NA				43484384		2108	4227	6335	SO:0001583	missense			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746	23072	23072			22195	protein-coding gene	gene with protein product		610384			NA	12690205, 14684739	Standard	NM_015052	XM_005249665	NA	Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000453890.1:c.1613C>A	7.37:g.43484384C>A	ENSP00000407774:p.Pro538His	NA	A7E2X0|A8MYS3|O15036|Q9HCC7	37		.	.	.	.	.	.	.	.	.	.	C	14.23	2.471918	0.43942	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.63913	1.02;-0.07	5.32	3.53	0.40419	.	1.104460	0.06890	N	0.804018	T	0.71745	0.3376	L	0.59436	1.845	0.52099	D	0.999947	D;D	0.58970	0.984;0.984	P;P	0.54372	0.75;0.75	T	0.61212	-0.7108	10	0.87932	D	0	.	11.6784	0.51442	0.0:0.8567:0.0:0.1433	.	538;538	B4DH42;Q76N89	.;HECW1_HUMAN	H	538	ENSP00000379228:P538H;ENSP00000407774:P538H	ENSP00000265522:P538H	P	+	2	0	HECW1	43450909	1.000000	0.71417	0.010000	0.14722	0.236000	0.25371	4.701000	0.61810	0.635000	0.30488	-0.136000	0.14681	CCT	HECW1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000338775.1		+	ENST00000453890.1	Missense_Mutation	SNP	7 : 43484384 - 43484384 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	10
SBNO2	22904	broad.mit.edu	37	19	1112516	1112516	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1112516C>A	ENST00000587024.1	-	21	2580	c.2370G>T	c.(2368-2370)gaG>gaT	p.E790D	SBNO2_ENST00000361757.3_Missense_Mutation_p.E800D|SBNO2_ENST00000438103.2_Missense_Mutation_p.E743D			Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	800					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTGGAGGCCTCCGAGATGA	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	18	17			NA	NA	19		NA											NA				1112516		2013	4158	6171	SO:0001583	missense			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932	22904	22904			29158	protein-coding gene	gene with protein product		615729	KIAA0963	KIAA0963	NA	10231032	Standard	NM_014963	NM_014963	NA	Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000587024.1:c.2370G>T	19.37:g.1112516C>A	ENSP00000468520:p.Glu790Asp	NA	A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	37		.	.	.	.	.	.	.	.	.	.	C	33	5.203957	0.95033	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	T;T	0.73152	-0.72;-0.72	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.65729	0.2719	N	0.17345	0.48	0.45995	D	0.998807	P;P	0.44429	0.835;0.802	P;P	0.49637	0.617;0.482	T	0.67011	-0.5778	10	0.36615	T	0.2	-35.3467	17.03	0.86458	0.0:1.0:0.0:0.0	.	800;743	Q9Y2G9;Q9Y2G9-3	SBNO2_HUMAN;.	D	800;743;807	ENSP00000354733:E800D;ENSP00000400762:E743D	ENSP00000250872:E807D	E	-	3	2	SBNO2	1063516	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.577000	0.23758	2.265000	0.75225	0.448000	0.29417	GAG	SBNO2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000458060.1		-	ENST00000587024.1	Missense_Mutation	SNP	19 : 1112516 - 1112516 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	110	16
YTHDF1	54915	broad.mit.edu	37	20	61834989	61834989	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61834989G>A	ENST00000370334.4	-	4	379				YTHDF1_ENST00000370333.4_Silent_p.H51H|YTHDF1_ENST00000370339.3_Silent_p.H101H			Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	NA										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						AAACAGCATCGTGCATAAAAT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	104	103			NA	NA	20		NA											NA				61834989		2203	4300	6503	SO:0001627	intron_variant			AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658	54915	54915			15867	protein-coding gene	gene with protein product			YTH domain family 1	C20orf21	NA		Standard	NM_017798	NM_017798	NA	Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370334.4:c.133-6903C>T	20.37:g.61834989G>A		NA	Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	37																																																																																				YTHDF1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000080111.2		-	ENST00000370334.4	Intron	SNP	20 : 61834989 - 61834989 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	419	84
MAGEC1	9947	broad.mit.edu	37	X	140994977	140994977	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140994977C>T	ENST00000285879.4	+	4	2073	c.1787C>T	c.(1786-1788)cCt>cTt	p.P596L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	596							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CACTACTTTCCTCAGAGCCCT	0.577		NA								HNSCC(15;0.026)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													223	238	233			NA	NA	X		NA											NA				140994977		2203	4300	6503	SO:0001583	missense			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495	9947	9947			6812	protein-coding gene	gene with protein product	cancer/testis antigen family 7, member 1	300223			NA	9485030, 9618514	Standard	NM_005462	NM_005462	NA	Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1787C>T	X.37:g.140994977C>T	ENSP00000285879:p.Pro596Leu	NA	O75451|Q8TCV4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	13.27	2.187076	0.38609	.	.	ENSG00000155495	ENST00000285879	T	0.15139	2.45	0.96	0.96	0.19631	.	.	.	.	.	T	0.17874	0.0429	N	0.08118	0	0.58432	D	0.999999	D	0.64830	0.994	D	0.73708	0.981	T	0.09552	-1.0669	9	0.87932	D	0	.	7.647	0.28325	0.0:0.9999:0.0:1.0E-4	.	596	O60732	MAGC1_HUMAN	L	596	ENSP00000285879:P596L	ENSP00000285879:P596L	P	+	2	0	MAGEC1	140822643	0.000000	0.05858	0.008000	0.14137	0.008000	0.06430	-0.017000	0.12590	0.187000	0.20147	0.190000	0.17370	CCT	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058604.1		+	ENST00000285879.4	Missense_Mutation	SNP	X : 140994977 - 140994977 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1734	466
MAST4	375449	broad.mit.edu	37	5	66461635	66461635	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66461635C>T	ENST00000403625.2	+	29	6923	c.6628C>T	c.(6628-6630)Cgg>Tgg	p.R2210W	MAST4_ENST00000261569.7_Missense_Mutation_p.R2016W|MAST4_ENST00000405643.1_Missense_Mutation_p.R2031W|MAST4_ENST00000404260.3_Missense_Mutation_p.R2213W|MAST4_ENST00000403666.1_Missense_Mutation_p.R2021W	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2213	Pro-rich.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCACCCCGACCGGTCCCTCTC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	17	16			NA	NA	5		NA											NA				66461635		1858	4102	5960	SO:0001583	missense			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020	375449	375449			19037	protein-coding gene	gene with protein product					NA	9205841	Standard		NM_198828	NA	Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.6628C>T	5.37:g.66461635C>T	ENSP00000385727:p.Arg2210Trp	NA	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	37	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.02|12.02	1.813212|1.813212	0.32053|0.32053	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000443808|ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	.|T;T;T;T;T	.|0.71222	.|-0.53;-0.53;-0.55;-0.55;-0.53	4.86|4.86	1.07|1.07	0.20283|0.20283	.|.	.|0.211736	.|0.32901	.|N	.|0.005507	T|T	0.70692|0.70692	0.3253|0.3253	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	.|D;D	.|0.71674	.|0.997;0.998	.|P;P	.|0.59546	.|0.803;0.859	T|T	0.65557|0.65557	-0.6139|-0.6139	5|10	.|0.72032	.|D	.|0.01	-14.3162|-14.3162	11.8586|11.8586	0.52453|0.52453	0.5134:0.4866:0.0:0.0|0.5134:0.4866:0.0:0.0	.|.	.|2213;2021	.|O15021;O15021-3	.|MAST4_HUMAN;.	L|W	1266|2213;2210;2021;2031;2031;2016	.|ENSP00000385048:R2213W;ENSP00000385727:R2210W;ENSP00000384313:R2021W;ENSP00000384099:R2031W;ENSP00000261569:R2016W	.|ENSP00000261569:R2016W	P|R	+|+	2|1	0|2	MAST4|MAST4	66497391|66497391	0.096000|0.096000	0.21769|0.21769	0.586000|0.586000	0.28679|0.28679	0.010000|0.010000	0.07245|0.07245	0.580000|0.580000	0.23803|0.23803	0.034000|0.034000	0.15491|0.15491	-0.397000|-0.397000	0.06425|0.06425	CCG|CGG	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326324.2		+	ENST00000403625.2	Missense_Mutation	SNP	5 : 66461635 - 66461635 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	122	19
C1QTNF6	114904	broad.mit.edu	37	22	37578293	37578293	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37578293A>G	ENST00000337843.2	-	3	847	c.772T>C	c.(772-774)Tac>Cac	p.Y258H	C1QTNF6_ENST00000255836.6_Missense_Mutation_p.Y134H|C1QTNF6_ENST00000397110.2_Missense_Mutation_p.Y258H|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000470655.1_5'UTR	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	239	C1q.					collagen				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						TCGTTGCTGTAGATGGCGTTC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	71	74			NA	NA	22		NA											NA				37578293		2203	4300	6503	SO:0001583	missense			AF329842	CCDS13943.1	22q13.1	2014-02-21			ENSG00000133466	ENSG00000133466	114904	114904			14343	protein-coding gene	gene with protein product		614910			NA	12975309	Standard	NM_182486	NM_031910	NA	Approved	CTRP6, ZACRP6	uc003aqy.1	Q9BXI9	OTTHUMG00000150538	ENST00000337843.2:c.772T>C	22.37:g.37578293A>G	ENSP00000338812:p.Tyr258His	NA	Q5H9G8|Q6ZRM7	37	CCDS13943.1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.063942	0.55432	.	.	ENSG00000133466	ENST00000397110;ENST00000337843;ENST00000255836	T;T;T	0.76316	-1.01;-1.01;-1.01	4.94	4.94	0.65067	Tumour necrosis factor-like (2);Complement C1q protein (2);	0.000000	0.85682	D	0.000000	D	0.84790	0.5550	M	0.73217	2.22	0.58432	D	0.999995	D;D	0.60575	0.959;0.988	P;P	0.61722	0.749;0.893	D	0.83886	0.0282	10	0.31617	T	0.26	.	14.6139	0.68534	1.0:0.0:0.0:0.0	.	258;239	Q9BXI9-2;Q9BXI9	.;C1QT6_HUMAN	H	258;258;134	ENSP00000380299:Y258H;ENSP00000338812:Y258H;ENSP00000255836:Y134H	ENSP00000255836:Y134H	Y	-	1	0	C1QTNF6	35908239	1.000000	0.71417	0.958000	0.39756	0.141000	0.21300	9.326000	0.96389	1.855000	0.53841	0.459000	0.35465	TAC	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318807.1		-	ENST00000337843.2	Missense_Mutation	SNP	22 : 37578293 - 37578293 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	256	50
CUX2	23316	broad.mit.edu	37	12	111758430	111758430	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111758430C>T	ENST00000261726.6	+	17	2771	c.2617C>T	c.(2617-2619)Ccg>Tcg	p.P873S		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	873						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GGCCTACGTGCCGCGCACCCT	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													7	8	8			NA	NA	12		NA											NA				111758430		2136	4237	6373	SO:0001583	missense			AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249	23316	23316		Homeoboxes / CUT class	19347	protein-coding gene	gene with protein product		610648	cut-like 2 (Drosophila)	CUTL2	NA		Standard	NM_015267	NM_015267	NA	Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.2617C>T	12.37:g.111758430C>T	ENSP00000261726:p.Pro873Ser	NA	A7E2Y4	37	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159415	0.78226	.	.	ENSG00000111249	ENST00000261726	T	0.46063	0.88	4.13	4.13	0.48395	.	0.111705	0.64402	D	0.000007	T	0.50582	0.1624	L	0.34521	1.04	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.38972	-0.9636	10	0.12430	T	0.62	-18.0431	16.4424	0.83906	0.0:1.0:0.0:0.0	.	873	O14529	CUX2_HUMAN	S	873	ENSP00000261726:P873S	ENSP00000261726:P873S	P	+	1	0	CUX2	110242813	1.000000	0.71417	0.959000	0.39883	0.954000	0.61252	5.678000	0.68153	1.866000	0.54105	0.289000	0.19496	CCG	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404765.1		+	ENST00000261726.6	Missense_Mutation	SNP	12 : 111758430 - 111758430 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	127	12
BIRC2	329	broad.mit.edu	37	11	102220830	102220830	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102220830A>G	ENST00000532672.1	+	3	519	c.182A>G	c.(181-183)aAa>aGa	p.K61R	BIRC2_ENST00000530675.1_Missense_Mutation_p.K33R|BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000227758.2_Missense_Mutation_p.K82R			Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	82					cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		GACAAGGTCAAATGCTTCTGT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								A	ARG/LYS	1,4405	2.1+/-5.4	0,1,2202	100	98	98		245	3.3	1	11		98	0,8598		0,0,4299	no	missense	BIRC2	NM_001166.3	26	0,1,6501	GG,GA,AA	NA	0.0,0.0227,0.0077	benign	82/619	102220830	1,13003	2203	4299	6502	SO:0001583	missense			L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330	329	329		Baculoviral IAP repeat containing, RING-type (C3HC4) zinc fingers	590	protein-coding gene	gene with protein product	NFR2-TRAF signalling complex protein, apoptosis inhibitor 1	601712	baculoviral IAP repeat-containing 2	API1	NA	8552191, 8548810	Standard	NM_001166	NM_001166	NA	Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000532672.1:c.182A>G	11.37:g.102220830A>G	ENSP00000434979:p.Lys61Arg	NA	Q16516|Q4TTG0	37		.	.	.	.	.	.	.	.	.	.	A	15.75	2.927061	0.52759	2.27E-4	0.0	ENSG00000110330	ENST00000530675;ENST00000227758;ENST00000541741;ENST00000532672;ENST00000527465	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	5.65	3.35	0.38373	Baculoviral inhibition of apoptosis protein repeat (5);	0.180898	0.64402	N	0.000010	T	0.57666	0.2069	N	0.17723	0.515	0.41648	D	0.989116	B	0.28350	0.208	B	0.36766	0.232	T	0.53968	-0.8363	10	0.46703	T	0.11	-4.2378	9.2562	0.37584	0.8532:0.0:0.1468:0.0	.	82	Q13490	BIRC2_HUMAN	R	33;82;82;61;61	ENSP00000431723:K33R;ENSP00000227758:K82R;ENSP00000434979:K61R;ENSP00000434708:K61R	ENSP00000227758:K82R	K	+	2	0	BIRC2	101726040	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.930000	0.48924	0.567000	0.29293	0.533000	0.62120	AAA	BIRC2-003	PUTATIVE	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000394171.1		+	ENST00000532672.1	Missense_Mutation	SNP	11 : 102220830 - 102220830 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	494	83
MAML3	55534	broad.mit.edu	37	4	140811481	140811481	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:140811481G>T	ENST00000509479.2	-	2	1965	c.1109C>A	c.(1108-1110)tCc>tAc	p.S370Y	MAML3_ENST00000327122.5_Missense_Mutation_p.S214Y	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	370					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					AGATCCCATGGAGACATGTGC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	83	83			NA	NA	4		NA											NA				140811481		1991	4177	6168	SO:0001583	missense			AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782	55534	55534			16272	protein-coding gene	gene with protein product	mastermind (drosophila)-like 3	608991	trinucleotide repeat containing 3	TNRC3	NA	12370315, 12386158	Standard		NM_018717	NA	Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1109C>A	4.37:g.140811481G>T	ENSP00000421180:p.Ser370Tyr	NA	B2RNU9|B3KVV7	37	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642178	0.47153	.	.	ENSG00000196782	ENST00000509479;ENST00000327122	T	0.26223	1.75	5.05	5.05	0.67936	.	0.195581	0.43919	D	0.000515	T	0.27169	0.0666	L	0.42245	1.32	0.80722	D	1	P	0.44195	0.828	B	0.40101	0.319	T	0.06972	-1.0797	10	0.62326	D	0.03	.	18.4404	0.90665	0.0:0.0:1.0:0.0	.	370	Q96JK9	MAML3_HUMAN	Y	370;214	ENSP00000421180:S370Y	ENSP00000313316:S214Y	S	-	2	0	MAML3	141030931	1.000000	0.71417	0.945000	0.38365	0.714000	0.41099	6.123000	0.71614	2.318000	0.78349	0.650000	0.86243	TCC	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364934.2		-	ENST00000509479.2	Missense_Mutation	SNP	4 : 140811481 - 140811481 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	497	90
FREM1	158326	broad.mit.edu	37	9	14747318	14747318	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14747318C>A	ENST00000380880.3	-	33	6736	c.5953G>T	c.(5953-5955)Gaa>Taa	p.E1985*	FREM1_ENST00000422223.2_Nonsense_Mutation_p.E1985*|FREM1_ENST00000380881.4_Nonsense_Mutation_p.E1986*|FREM1_ENST00000380894.1_Nonsense_Mutation_p.E521*			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1985					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGAGGCAGTTCTGCCACTTTG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													222	207	212			NA	NA	9		NA											NA				14747318		1943	4155	6098	SO:0001587	stop_gained			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946	158326	158326			23399	protein-coding gene	gene with protein product		608944	chromosome 9 open reading frame 154	C9orf154	NA	12838346, 15345741	Standard	NM_144966	NM_144966	NA	Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.5953G>T	9.37:g.14747318C>A	ENSP00000370262:p.Glu1985*	NA	Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	37	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	50	16.906635	0.99874	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880	.	.	.	5.64	4.73	0.59995	.	0.592171	0.18006	N	0.154748	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-11.2242	14.7377	0.69427	0.0:0.8557:0.1443:0.0	.	.	.	.	X	1986;1985;521;1985	.	ENSP00000370262:E1985X	E	-	1	0	FREM1	14737318	0.998000	0.40836	0.161000	0.22692	0.466000	0.32739	3.625000	0.54238	1.340000	0.45581	0.655000	0.94253	GAA	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339474.2		-	ENST00000380880.3	Nonsense_Mutation	SNP	9 : 14747318 - 14747318 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	737	99
GAB3	139716	broad.mit.edu	37	X	153927748	153927748	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153927748C>T	ENST00000369575.3	-	6	1194	c.1163G>A	c.(1162-1164)aGt>aAt	p.S388N	GAB3_ENST00000424127.2_Missense_Mutation_p.S389N|GAB3_ENST00000496390.1_5'UTR	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	388										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GTCTTCGATACTGGCTGAAGC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	63	65			NA	NA	X		NA											NA				153927748		2203	4300	6503	SO:0001583	missense			AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219	139716	139716		Pleckstrin homology (PH) domain containing	17515	protein-coding gene	gene with protein product	DOS/Gab family member 3, Gab3 scaffolding protein	300482			NA	11739737	Standard	NM_001081573	XM_005274648	NA	Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.1163G>A	X.37:g.153927748C>T	ENSP00000358588:p.Ser388Asn	NA		37	CCDS14760.1	.	.	.	.	.	.	.	.	.	.	C	6.811	0.518775	0.13005	.	.	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	T;T;T	0.26957	1.7;1.7;1.7	5.85	4.09	0.47781	.	0.454231	0.28284	N	0.015909	T	0.18964	0.0455	L	0.47716	1.5	0.09310	N	1	P;B;P	0.42871	0.792;0.056;0.682	B;B;B	0.40329	0.326;0.047;0.326	T	0.13202	-1.0518	10	0.02654	T	1	-1.7537	9.8274	0.40921	0.0:0.8291:0.0:0.1709	.	389;389;388	A6NHF8;E9PB44;Q8WWW8	.;.;GAB3_HUMAN	N	388;389;389	ENSP00000358588:S388N;ENSP00000358581:S389N;ENSP00000399588:S389N	ENSP00000358581:S389N	S	-	2	0	GAB3	153580942	0.057000	0.20700	0.003000	0.11579	0.152000	0.21847	1.057000	0.30492	0.623000	0.30267	0.529000	0.55759	AGT	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000061192.2		-	ENST00000369575.3	Missense_Mutation	SNP	X : 153927748 - 153927748 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	328	75
PIK3AP1	118788	broad.mit.edu	37	10	98405355	98405355	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98405355G>T	ENST00000339364.5	-	8	1369	c.1250C>A	c.(1249-1251)gCt>gAt	p.A417D	PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.A239D	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	417						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CTCGTACACAGCATCAGCCTC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													187	146	160			NA	NA	10		NA											NA				98405355		2203	4300	6503	SO:0001583	missense			AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629	118788	118788			30034	protein-coding gene	gene with protein product		607942			NA	1251844, 11163197	Standard	NM_152309	NM_152309	NA	Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1250C>A	10.37:g.98405355G>T	ENSP00000339826:p.Ala417Asp	NA	Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	37	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.679631	0.00751	.	.	ENSG00000155629	ENST00000339364;ENST00000371110	T;T	0.15372	3.1;2.43	5.81	1.62	0.23740	.	0.570773	0.20462	N	0.091861	T	0.06917	0.0176	N	0.04508	-0.205	0.18873	N	0.999987	B	0.06786	0.001	B	0.09377	0.004	T	0.39251	-0.9623	10	0.02654	T	1	-1.1317	14.6981	0.69136	0.0:0.0:0.4863:0.5137	.	417	Q6ZUJ8	BCAP_HUMAN	D	417;239	ENSP00000339826:A417D;ENSP00000360151:A239D	ENSP00000339826:A417D	A	-	2	0	PIK3AP1	98395345	0.137000	0.22531	0.004000	0.12327	0.275000	0.26752	2.701000	0.47094	0.025000	0.15241	-0.169000	0.13324	GCT	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049619.2		-	ENST00000339364.5	Missense_Mutation	SNP	10 : 98405355 - 98405355 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	418	67
MAP1B	4131	broad.mit.edu	37	5	71490541	71490541	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71490541G>A	ENST00000296755.7	+	5	1657	c.1359G>A	c.(1357-1359)ctG>ctA	p.L453L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	453						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AATTCATTCTGCCTAATGGTC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(17;367 822 11631 31730 47712)							NA				0													106	107	106			NA	NA	5		NA											NA				71490541		2203	4300	6503	SO:0001819	synonymous_variant			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711	4131	4131			6836	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 102	157129			NA	1881920	Standard	NM_005909	NM_005909	NA	Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.1359G>A	5.37:g.71490541G>A		NA	A2BDK5	37	CCDS4012.1																																																																																			MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000218561.6		+	ENST00000296755.7	Silent	SNP	5 : 71490541 - 71490541 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	504	86
TGFBR2	7048	broad.mit.edu	37	3	30713754	30713754	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:30713754A>C	ENST00000295754.5	+	4	1461	c.1079A>C	c.(1078-1080)cAc>cCc	p.H360P	TGFBR2_ENST00000359013.4_Missense_Mutation_p.H385P	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	360	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GGGATTGCTCACCTCCACAGT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM075033	TGFBR2	M							170	153	159			NA	NA	3		NA											NA				30713754		2203	4300	6503	SO:0001583	missense				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513	7048	7048			11773	protein-coding gene	gene with protein product		190182	transforming growth factor, beta receptor II (70-80kD)	MFS2	NA	1319842, 15235604	Standard		NM_001024847	NA	Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1079A>C	3.37:g.30713754A>C	ENSP00000295754:p.His360Pro	NA	B4DTV5|Q15580|Q6DKT6|Q99474	37	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.048007	0.75846	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	T;T	0.67865	-0.29;-0.29	4.84	4.84	0.62591	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83945	0.5364	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.87437	0.2392	10	0.87932	D	0	.	14.4331	0.67264	1.0:0.0:0.0:0.0	.	360;385	P37173;D2JYI1	TGFR2_HUMAN;.	P	360;385;190	ENSP00000295754:H360P;ENSP00000351905:H385P	ENSP00000295754:H360P	H	+	2	0	TGFBR2	30688758	1.000000	0.71417	0.991000	0.47740	0.936000	0.57629	9.335000	0.96500	1.809000	0.52856	0.528000	0.53228	CAC	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252994.2		+	ENST00000295754.5	Missense_Mutation	SNP	3 : 30713754 - 30713754 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	857	172
OSBPL10	114884	broad.mit.edu	37	3	31918002	31918002	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:31918002C>T	ENST00000396556.2	-	3	582	c.460G>A	c.(460-462)Gct>Act	p.A154T	OSBPL10_ENST00000438237.2_Missense_Mutation_p.A154T	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	154	PH.				lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TTTGCATCAGCAGCTAAAATA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	86	87			NA	NA	3		NA											NA				31918002		2203	4300	6503	SO:0001583	missense			AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645	114884	114884		Oxysterol binding proteins, Pleckstrin homology (PH) domain containing	16395	protein-coding gene	gene with protein product		606738			NA		Standard		NM_001174060	NA	Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.460G>A	3.37:g.31918002C>T	ENSP00000379804:p.Ala154Thr	NA	Q9BTU5	37	CCDS2651.1	.	.	.	.	.	.	.	.	.	.	C	7.053	0.564909	0.13498	.	.	ENSG00000144645	ENST00000396556;ENST00000438237	T;T	0.45276	0.9;2.26	5.26	4.37	0.52481	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.361080	0.27956	N	0.017174	T	0.25865	0.0630	N	0.20401	0.57	0.26882	N	0.967524	P;B	0.43578	0.811;0.053	B;B	0.40825	0.341;0.088	T	0.07347	-1.0777	10	0.16896	T	0.51	-6.2716	9.3779	0.38295	0.1528:0.7726:0.0:0.0745	.	154;154	B4E212;Q9BXB5	.;OSB10_HUMAN	T	154	ENSP00000379804:A154T;ENSP00000406124:A154T	ENSP00000379804:A154T	A	-	1	0	OSBPL10	31893006	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.571000	0.36450	1.182000	0.42928	0.563000	0.77884	GCT	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253165.2		-	ENST00000396556.2	Missense_Mutation	SNP	3 : 31918002 - 31918002 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	273	40
CCNO	10309	broad.mit.edu	37	5	54527267	54527267	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54527267G>A	ENST00000282572.4	-	3	1145	c.989C>T	c.(988-990)tCc>tTc	p.S330F		NM_021147.3	NP_066970.3	P22674	CCNO_HUMAN	cyclin O	330					cell cycle|cell division|depyrimidination|regulation of cyclin-dependent protein kinase activity	nucleoplasm	protein kinase binding|uracil DNA N-glycosylase activity			endometrium(1)|lung(3)|skin(1)	5		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)			GTGAGTCAAGGAAGTACTGTT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	73	73			NA	NA	5		NA											NA				54527267		2203	4300	6503	SO:0001583	missense			M87499	CCDS34157.1	5q11.2	2010-11-15	2007-07-26	2007-07-26	ENSG00000152669	ENSG00000152669	10309	10309			18576	protein-coding gene	gene with protein product		607752	cyclin U	CCNU	NA		Standard	NM_021147	NR_125346	NA	Approved	UDG2, FLJ22422, UNG2	uc003jpw.3	P22674	OTTHUMG00000162598	ENST00000282572.4:c.989C>T	5.37:g.54527267G>A	ENSP00000282572:p.Ser330Phe	NA	A8K1W5|Q0P6J2|Q9H6B0|Q9UMD5	37	CCDS34157.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321669	0.41096	.	.	ENSG00000152669	ENST00000282572	T	0.19394	2.15	5.7	5.7	0.88788	.	0.363150	0.27673	N	0.018331	T	0.31513	0.0799	L	0.35414	1.06	0.23984	N	0.996264	D	0.60575	0.988	P	0.59288	0.855	T	0.22941	-1.0202	10	0.15499	T	0.54	.	19.4402	0.94817	0.0:0.0:1.0:0.0	.	330	P22674	CCNO_HUMAN	F	330	ENSP00000282572:S330F	ENSP00000282572:S330F	S	-	2	0	CCNO	54563024	0.989000	0.36119	0.683000	0.30040	0.765000	0.43378	4.199000	0.58426	2.696000	0.92011	0.561000	0.74099	TCC	CCNO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369707.1		-	ENST00000282572.4	Missense_Mutation	SNP	5 : 54527267 - 54527267 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	392	61
MID2	11043	broad.mit.edu	37	X	107084366	107084366	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107084366T>C	ENST00000262843.6	+	2	1019	c.471T>C	c.(469-471)tgT>tgC	p.C157C	MID2_ENST00000443968.2_Silent_p.C157C	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	157						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						GCATCACCTGTGAGGTCTCCT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	46	49			NA	NA	X		NA											NA				107084366		2203	4300	6503	SO:0001819	synonymous_variant				CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561	11043	11043		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers, Fibronectin type III domain containing	7096	protein-coding gene	gene with protein product		300204			NA	10400986	Standard	NM_012216	NM_012216	NA	Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.471T>C	X.37:g.107084366T>C		NA	A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	37	CCDS14532.2																																																																																			MID2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057852.2		+	ENST00000262843.6	Silent	SNP	X : 107084366 - 107084366 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	165	43
DDR2	4921	broad.mit.edu	37	1	162741822	162741822	+	Missense_Mutation	SNP	G	G	A	rs115169993	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162741822G>A	ENST00000367922.3	+	14	1951	c.1513G>A	c.(1513-1515)Ggt>Agt	p.G505S	DDR2_ENST00000367921.3_Missense_Mutation_p.G505S	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	NA					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			AGGCTGCAGCGGTGTTGTGAA	0.567		NA											G	5	0.0023	0.01	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	0.0023	1	LOWCOV,EXOME	NA	NA	9e-04	SNP	NSCLC(161;314 2006 8283 19651 23192)							NA				0								G	SER/GLY,SER/GLY	37,4369	39.2+/-71.8	0,37,2166	38	32	34		1513,1513	2	0.8	1	dbSNP_132	34	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	DDR2	NM_001014796.1,NM_006182.2	56,56	0,38,6465	AA,AG,GG	NA	0.0116,0.8398,0.2922	benign,benign	505/856,505/856	162741822	38,12968	2203	4300	6503	SO:0001583	missense			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	4921	4921	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	discoidin domain receptor family, member 2	TYRO10, NTRKR3	NA	9659899	Standard	NM_006182	XM_005245221	NA	Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.1513G>A	1.37:g.162741822G>A	ENSP00000356899:p.Gly505Ser	NA	Q7Z730	37	CCDS1241.1	5|5	0.0022893772893772895|0.0022893772893772895	4|4	0.008130081300813009|0.008130081300813009	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	G|G	10.21|10.21	1.286147|1.286147	0.23478|0.23478	0.008398|0.008398	1.16E-4|1.16E-4	ENSG00000162733|ENSG00000162733	ENST00000367922;ENST00000367921|ENST00000433757	D;D|.	0.83335|.	-1.71;-1.71|.	5.27|5.27	1.98|1.98	0.26296|0.26296	.|.	0.433730|.	0.26907|.	N|.	0.021892|.	T|T	0.21550|0.21550	0.0519|0.0519	L|L	0.54323|0.54323	1.7|1.7	.|.	.|.	.|.	B|.	0.25850|.	0.136|.	B|.	0.19148|.	0.024|.	T|T	0.19418|0.19418	-1.0306|-1.0306	9|4	0.20046|.	T|.	0.44|.	.|.	2.398|2.398	0.04394|0.04394	0.1828:0.1446:0.5245:0.1481|0.1828:0.1446:0.5245:0.1481	.|.	505|.	Q16832|.	DDR2_HUMAN|.	S|Q	505|97	ENSP00000356899:G505S;ENSP00000356898:G505S|.	ENSP00000356898:G505S|.	G|R	+|+	1|2	0|0	DDR2|DDR2	161008446|161008446	0.608000|0.608000	0.26966|0.26966	0.759000|0.759000	0.31340|0.31340	0.151000|0.151000	0.21798|0.21798	0.821000|0.821000	0.27338|0.27338	1.132000|1.132000	0.42129|0.42129	0.655000|0.655000	0.94253|0.94253	GGT|CGG	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083213.2		+	ENST00000367922.3	Missense_Mutation	SNP	1 : 162741822 - 162741822 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	103	14
GRID1	2894	broad.mit.edu	37	10	87379700	87379700	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:87379700C>T	ENST00000327946.7	-	14	2369	c.2284G>A	c.(2284-2286)Ggc>Agc	p.G762S	GRID1_ENST00000536331.1_Missense_Mutation_p.G333S	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	762						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	ATGCTGTTGCCGATGACAGTC	0.582		NA								Multiple Myeloma(13;0.14)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	96	108			NA	NA	10		NA											NA				87379700		2203	4300	6503	SO:0001583	missense			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771	2894	2894		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4575	protein-coding gene	gene with protein product		610659			NA		Standard	XM_043613	NM_017551	NA	Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2284G>A	10.37:g.87379700C>T	ENSP00000330148:p.Gly762Ser	NA	B3KXD5|Q8IXT3	37	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.851330	0.71719	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.14640	2.49;2.49	5.28	1.4	0.22301	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.199677	0.52532	N	0.000065	T	0.21227	0.0511	M	0.85542	2.76	0.80722	D	1	P	0.45715	0.865	B	0.43194	0.411	T	0.03555	-1.1025	10	0.59425	D	0.04	.	9.3267	0.37997	0.0:0.7095:0.0:0.2905	.	762	Q9ULK0	GRID1_HUMAN	S	762;333	ENSP00000330148:G762S;ENSP00000444455:G333S	ENSP00000330148:G762S	G	-	1	0	GRID1	87369680	0.902000	0.30710	0.140000	0.22221	0.797000	0.45037	1.842000	0.39250	-0.002000	0.14469	-0.291000	0.09656	GGC	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049148.3		-	ENST00000327946.7	Missense_Mutation	SNP	10 : 87379700 - 87379700 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	321	34
ZNF433	163059	broad.mit.edu	37	19	12125782	12125782	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12125782G>A	ENST00000419886.2	-	5	2086	c.1795C>T	c.(1795-1797)Cga>Tga	p.R599*	ZNF433_ENST00000344980.6_Nonsense_Mutation_p.R634*|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	634					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						CCATGCCTTCGAAGGTTTGAG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	stop/ARG	5,4395	8.1+/-20.4	0,5,2195	82	86	85		1900	-2.7	0	19		85	0,8600		0,0,4300	no	stop-gained	ZNF433	NM_001080411.1		0,5,6495	AA,AG,GG	NA	0.0,0.1136,0.0385		634/674	12125782	5,12995	2200	4300	6500	SO:0001587	stop_gained			AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647	163059	163059		Zinc fingers, C2H2-type, -	20811	protein-coding gene	gene with protein product					NA		Standard	NM_152602	NM_001080411	NA	Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000419886.2:c.1795C>T	19.37:g.12125782G>A	ENSP00000393416:p.Arg599*	NA	Q86VX3	37		.	.	.	.	.	.	.	.	.	.	G	36	5.838562	0.97009	0.001136	0.0	ENSG00000197647	ENST00000419886;ENST00000344980	.	.	.	1.35	-2.71	0.05986	.	.	.	.	.	.	.	.	.	.	.	0.54753	D	0.999981	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	0.4753	0.00538	0.2561:0.1476:0.3216:0.2746	.	.	.	.	X	599;634	.	ENSP00000339767:R634X	R	-	1	2	ZNF433	11986782	0.000000	0.05858	0.000000	0.03702	0.974000	0.67602	-2.246000	0.01191	-1.887000	0.01115	0.313000	0.20887	CGA	ZNF433-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000344143.2		-	ENST00000419886.2	Nonsense_Mutation	SNP	19 : 12125782 - 12125782 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	394	76
UBE2E1	7324	broad.mit.edu	37	3	23932089	23932089	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:23932089G>A	ENST00000306627.3	+	6	793	c.574G>A	c.(574-576)Gct>Act	p.A192T	UBE2E1_ENST00000475680.1_3'UTR|UBE2E1_ENST00000346855.3_Missense_Mutation_p.A175T|UBE2E1_ENST00000424381.1_Missense_Mutation_p.A159T	NM_003341.4	NP_003332.1	P51965	UB2E1_HUMAN	ubiquitin-conjugating enzyme E2E 1	192					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|histone H2B ubiquitination|histone monoubiquitination|ISG15-protein conjugation|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K48-linked ubiquitination	cytosol|nucleoplasm|ubiquitin ligase complex	ATP binding|ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|large_intestine(4)	7						CAAGAGATACGCTACATAAAT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	88	91			NA	NA	3		NA											NA				23932089		2203	4300	6503	SO:0001583	missense			X92963	CCDS2638.1, CCDS2639.1, CCDS56244.1	3p24.2	2011-05-19	2011-05-19		ENSG00000170142	ENSG00000170142	7324	7324		Ubiquitin-conjugating enzymes E2	12477	protein-coding gene	gene with protein product		602916	ubiquitin-conjugating enzyme E2E 1 (homologous to yeast UBC4/5), ubiquitin-conjugating enzyme E2E 1 (UBC4/5 homolog, yeast)		NA	8576257	Standard	NM_003341	NM_003341	NA	Approved	UbcH6	uc003cch.3	P51965	OTTHUMG00000130483	ENST00000306627.3:c.574G>A	3.37:g.23932089G>A	ENSP00000303709:p.Ala192Thr	NA	B2RBX4	37	CCDS2638.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.707835	0.89018	.	.	ENSG00000170142	ENST00000306627;ENST00000346855;ENST00000424381;ENST00000452012	T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89	5.86	5.0	0.66597	Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.64402	D	0.000001	D	0.91506	0.7318	H	0.99058	4.415	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	D	0.94761	0.7936	10	0.87932	D	0	.	15.0642	0.71980	0.0678:0.0:0.9321:0.0	.	192	P51965	UB2E1_HUMAN	T	192;175;159;150	ENSP00000303709:A192T;ENSP00000329113:A175T;ENSP00000411351:A159T;ENSP00000393088:A150T	ENSP00000303709:A192T	A	+	1	0	UBE2E1	23907093	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.869000	0.99810	1.494000	0.48533	0.655000	0.94253	GCT	UBE2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252882.2		+	ENST00000306627.3	Missense_Mutation	SNP	3 : 23932089 - 23932089 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	202	33
ARHGAP8	23779	broad.mit.edu	37	22	45255624	45255624	+	Silent	SNP	C	C	T	rs144257107		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45255624C>T	ENST00000336963.4	+	11	973				PRR5-ARHGAP8_ENST00000361473.5_Silent_p.S428S|ARHGAP8_ENST00000517296.3_Silent_p.S507S|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.S507S|ARHGAP8_ENST00000389773.5_Silent_p.S419S|ARHGAP8_ENST00000356099.6_Silent_p.S297S|ARHGAP8_ENST00000389774.2_Silent_p.S328S	NM_001198726.1	NP_001185655.1			Rho GTPase activating protein 8	NA										breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		TGGAGAGCAGCCTGCGTGTCA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	50	52			NA	NA	22		NA											NA				45255624		2203	4300	6503	SO:0001627	intron_variant			AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484	23779	23779		Rho GTPase activating proteins	677	protein-coding gene	gene with protein product		609405			NA	10591208	Standard	NM_017701	NM_001198726	NA	Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000336963.4:c.878-2531C>T	22.37:g.45255624C>T		NA		37	CCDS56233.1	.	.	.	.	.	.	.	.	.	.	C	0.881	-0.728824	0.03135	.	.	ENSG00000248405	ENST00000515632	.	.	.	4.14	0.806	0.18708	.	.	.	.	.	T	0.51958	0.1705	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37731	-0.9693	4	.	.	.	.	5.938	0.19177	0.0:0.5978:0.1399:0.2623	.	.	.	.	V	368	.	.	A	+	2	0	PRR5-ARHGAP8	43634288	1.000000	0.71417	0.999000	0.59377	0.049000	0.14656	0.876000	0.28092	0.069000	0.16605	-1.512000	0.00943	GCC	ARHGAP8-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157074.1		+	ENST00000336963.4	Intron	SNP	22 : 45255624 - 45255624 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	183	35
IQCA1	79781	broad.mit.edu	37	2	237272537	237272537	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237272537G>T	ENST00000409907.3	-	15	2029	c.1755C>A	c.(1753-1755)gtC>gtA	p.V585V	IQCA1_ENST00000309507.5_Silent_p.V582V|IQCA1_ENST00000431676.2_Silent_p.V544V	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	585							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						AGATGGCATGGACCAGCATTT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	169	170			NA	NA	2		NA											NA				237272537		1994	4154	6148	SO:0001819	synonymous_variant			AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321	79781	79781		ATPases / AAA-type	26195	protein-coding gene	gene with protein product	dynein regulatory complex subunit 11		IQ motif containing with AAA domain	IQCA	NA	23427265	Standard	NM_024726	NM_024726	NA	Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.1755C>A	2.37:g.237272537G>T		NA	Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	37	CCDS46549.1																																																																																			IQCA1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329266.1		-	ENST00000409907.3	Silent	SNP	2 : 237272537 - 237272537 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	571	150
ADRA2A	150	broad.mit.edu	37	10	112839042	112839042	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:112839042G>A	ENST00000280155.2	+	1	2253	c.1288G>A	c.(1288-1290)Ggc>Agc	p.G430S		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	415					actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	CTTCTGGTTCGGCTACTGCAA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(173;605 2658 7278 49362)							NA				0													144	128	134			NA	NA	10		NA											NA				112839042		2203	4300	6503	SO:0001583	missense			AF284095	CCDS7569.2	10q25.2	2012-08-08	2012-05-09		ENSG00000150594	ENSG00000150594	150	150		GPCR / Class A : Adrenoceptors : alpha	281	protein-coding gene	gene with protein product	alpha-2AAR subtype C10,  alpha-2A-adrenergic receptor	104210	adrenergic, alpha-2A-, receptor	ADRA2, ADRA2R	NA		Standard	NM_000681	NM_000681	NA	Approved	ADRAR	uc001kzo.3	P08913	OTTHUMG00000019050	ENST00000280155.2:c.1288G>A	10.37:g.112839042G>A	ENSP00000280155:p.Gly430Ser	NA	B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	37	CCDS7569.2	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756472	0.89843	.	.	ENSG00000150594	ENST00000280155	T	0.36157	1.27	3.82	3.82	0.43975	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000001	T	0.60676	0.2287	M	0.90814	3.15	0.58432	D	0.999999	D	0.61697	0.99	P	0.55615	0.78	T	0.73943	-0.3823	10	0.87932	D	0	.	15.8745	0.79151	0.0:0.0:1.0:0.0	.	415	P08913	ADA2A_HUMAN	S	430	ENSP00000280155:G430S	ENSP00000280155:G430S	G	+	1	0	ADRA2A	112829032	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.350000	0.97070	1.936000	0.56123	0.462000	0.41574	GGC	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050372.2		+	ENST00000280155.2	Missense_Mutation	SNP	10 : 112839042 - 112839042 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	888	153
UCP3	7352	broad.mit.edu	37	11	73712499	73712499	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73712499C>T	ENST00000314032.4	-	7	1449	c.897G>A	c.(895-897)cgG>cgA	p.R299R	UCP3_ENST00000348534.4_Silent_p.R197R	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	299	Purine nucleotide binding (By similarity).				mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					TCATCAGGGCCCGTTTCAGCT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	118	130			NA	NA	11		NA											NA				73712499		2200	4293	6493	SO:0001819	synonymous_variant			AF001787	CCDS8229.1, CCDS44677.1	11q13.4	2013-05-22				ENSG00000175564	7352	7352		Solute carriers	12519	protein-coding gene	gene with protein product		602044			NA	9480760, 9196039	Standard	NM_003356	NM_003356	NA	Approved	SLC25A9	uc001our.3	P55916		ENST00000314032.4:c.897G>A	11.37:g.73712499C>T		NA	O60475|Q96HL3	37	CCDS8229.1																																																																																			UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398200.1		-	ENST00000314032.4	Silent	SNP	11 : 73712499 - 73712499 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	54
PTPLA	9200	broad.mit.edu	37	10	17636234	17636234	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17636234G>T	ENST00000361271.3	-	6	791	c.754C>A	c.(754-756)Ctt>Att	p.L252I		NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A	252					fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						GTTATAAGAAGAAAATAATAG	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	61	60			NA	NA	10		NA											NA				17636234		2202	4295	6497	SO:0001583	missense			AF114494	CCDS7121.1	10p14-p13	2008-08-01	2005-11-11		ENSG00000165996	ENSG00000165996	9200	9200			9639	protein-coding gene	gene with protein product	cementum attachment protein	610467	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a		NA	10644438	Standard	NM_014241	XM_005252641	NA	Approved	CAP	uc001ipg.3	B0YJ81	OTTHUMG00000017750	ENST00000361271.3:c.754C>A	10.37:g.17636234G>T	ENSP00000355308:p.Leu252Ile	NA	B0YJ80|Q6JIC5|Q96FW7|Q9HB93|Q9UHX2	37	CCDS7121.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.892142	0.91889	.	.	ENSG00000165996	ENST00000361271	T	0.36340	1.26	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.57154	0.2034	M	0.72353	2.195	0.80722	D	1	P	0.46859	0.885	P	0.55222	0.771	T	0.55667	-0.8105	10	0.59425	D	0.04	-21.2146	20.2406	0.98372	0.0:0.0:1.0:0.0	.	252	B0YJ81	HACD1_HUMAN	I	252	ENSP00000355308:L252I	ENSP00000355308:L252I	L	-	1	0	PTPLA	17676240	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.846000	0.99502	2.857000	0.98124	0.650000	0.86243	CTT	PTPLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047046.1		-	ENST00000361271.3	Missense_Mutation	SNP	10 : 17636234 - 17636234 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	307	38
PHLDB2	90102	broad.mit.edu	37	3	111658364	111658364	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111658364C>A	ENST00000495180.1	+	6	953	c.931C>A	c.(931-933)Ctg>Atg	p.L311M	PHLDB2_ENST00000393923.3_Missense_Mutation_p.L709M|PHLDB2_ENST00000393925.3_Missense_Mutation_p.L725M|PHLDB2_ENST00000412622.1_Missense_Mutation_p.L682M|PHLDB2_ENST00000431670.2_Missense_Mutation_p.L725M|PHLDB2_ENST00000481953.1_Missense_Mutation_p.L682M			Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	725						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CTTTGAAGACCTGGAGTTCCA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	118	120			NA	NA	3		NA											NA				111658364		2203	4300	6503	SO:0001583	missense				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824	90102	90102		Pleckstrin homology (PH) domain containing	29573	protein-coding gene	gene with protein product		610298			NA	12376540	Standard	NM_145753	NM_145753	NA	Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000495180.1:c.931C>A	3.37:g.111658364C>A	ENSP00000420303:p.Leu311Met	NA	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	37		.	.	.	.	.	.	.	.	.	.	C	18.39	3.613049	0.66672	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.60672	0.54;0.17;0.55;0.64;0.17;0.55;1.44	5.53	1.7	0.24286	.	0.000000	0.64402	D	0.000007	T	0.67720	0.2923	M	0.64567	1.98	0.43430	D	0.995596	D;D;D;D	0.76494	0.989;0.998;0.999;0.984	P;D;D;D	0.68039	0.78;0.95;0.955;0.926	T	0.65705	-0.6103	10	0.62326	D	0.03	.	9.5472	0.39288	0.0:0.7006:0.0:0.2994	.	311;725;682;709	E9PGF6;Q86SQ0;Q86SQ0-2;Q86SQ0-3	.;PHLB2_HUMAN;.;.	M	709;709;725;682;682;725;682;311	ENSP00000377500:L709M;ENSP00000405405:L725M;ENSP00000405292:L682M;ENSP00000418296:L682M;ENSP00000377502:L725M;ENSP00000418319:L682M;ENSP00000420303:L311M	ENSP00000352764:L709M	L	+	1	2	PHLDB2	113141054	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	1.150000	0.31639	0.090000	0.17273	0.650000	0.86243	CTG	PHLDB2-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000354340.1		+	ENST00000495180.1	Missense_Mutation	SNP	3 : 111658364 - 111658364 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	535	94
PCSK4	54760	broad.mit.edu	37	19	1483417	1483417	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1483417G>A	ENST00000300954.5	-	12	1498	c.1437C>T	c.(1435-1437)tgC>tgT	p.C479C		NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	479					proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGGCCGGCGCAGGCCGATA	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	28	26			NA	NA	19		NA											NA				1483417		2174	4237	6411	SO:0001819	synonymous_variant			AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257	54760	54760			8746	protein-coding gene	gene with protein product		600487			NA	7782070	Standard	NM_017573	XM_005259586	NA	Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.1437C>T	19.37:g.1483417G>A		NA	Q8IY88|Q9UF79	37	CCDS12069.2																																																																																			PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449703.1		-	ENST00000300954.5	Silent	SNP	19 : 1483417 - 1483417 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	261	80
LIPG	9388	broad.mit.edu	37	18	47110060	47110060	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47110060G>A	ENST00000427224.2	+	7	1319	c.1070G>A	c.(1069-1071)cGc>cAc	p.R357H	LIPG_ENST00000261292.4_Missense_Mutation_p.R431H			Q9Y5X9	LIPE_HUMAN	lipase, endothelial	431	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						AAGGAGTTTCGCAGCTACCTG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(126;280 1778 12814 26243 34948)							NA				0													72	64	67			NA	NA	18		NA											NA				47110060		2203	4300	6503	SO:0001583	missense			AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670	9388	9388			6623	protein-coding gene	gene with protein product		603684			NA	10318835, 10192396	Standard	NM_006033	XM_005258390	NA	Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000427224.2:c.1070G>A	18.37:g.47110060G>A	ENSP00000387978:p.Arg357His	NA	B0LPG6|Q6P9C8|Q6UW82	37		.	.	.	.	.	.	.	.	.	.	G	18.71	3.683239	0.68157	.	.	ENSG00000101670	ENST00000261292;ENST00000427224	D;D	0.86627	-2.15;-1.64	5.38	4.51	0.55191	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.214441	0.47852	D	0.000208	D	0.90525	0.7031	M	0.63428	1.95	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.69654	0.965;0.912	D	0.89655	0.3872	10	0.51188	T	0.08	-20.9923	8.7691	0.34722	0.2273:0.0:0.7727:0.0	.	357;431	B4DTR8;Q9Y5X9	.;LIPE_HUMAN	H	431;357	ENSP00000261292:R431H;ENSP00000387978:R357H	ENSP00000261292:R431H	R	+	2	0	LIPG	45364058	0.005000	0.15991	1.000000	0.80357	0.965000	0.64279	1.242000	0.32755	1.274000	0.44362	0.561000	0.74099	CGC	LIPG-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000447547.1		+	ENST00000427224.2	Missense_Mutation	SNP	18 : 47110060 - 47110060 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	236	43
SQSTM1	8878	broad.mit.edu	37	5	179260107	179260107	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179260107G>T	ENST00000389805.4	+	6	1008	c.830G>T	c.(829-831)aGc>aTc	p.S277I	SQSTM1_ENST00000510187.1_Missense_Mutation_p.S277I|SQSTM1_ENST00000360718.5_Missense_Mutation_p.S193I|SQSTM1_ENST00000376929.3_Missense_Mutation_p.S193I|SQSTM1_ENST00000402874.3_Missense_Mutation_p.S193I	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	277	Interaction with NTRK1 (By similarity).|Ser-rich.				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGAGTTCCAGCACAGAGGAG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	51	50			NA	NA	5		NA											NA				179260107		2203	4300	6503	SO:0001583	missense			U46751	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011	8878	8878			11280	protein-coding gene	gene with protein product		601530	Paget disease of bone 3, oxidative stress induced like	PDB3, OSIL	NA	8650207, 8551575	Standard		NM_003900	NA	Approved	p62, p60, p62B, A170	uc003mkw.4	Q13501	OTTHUMG00000150643	ENST00000389805.4:c.830G>T	5.37:g.179260107G>T	ENSP00000374455:p.Ser277Ile	NA	A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	37	CCDS34317.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.524800	0.44969	.	.	ENSG00000161011	ENST00000376929;ENST00000389805;ENST00000454378;ENST00000402874;ENST00000510187;ENST00000360718	D;D;D;T;D	0.83250	-1.7;-1.69;-1.7;2.29;-1.7	5.0	4.12	0.48240	.	0.387327	0.34088	N	0.004266	D	0.82318	0.5011	M	0.62723	1.935	0.35179	D	0.77226	B;P	0.50943	0.229;0.94	B;P	0.44860	0.087;0.462	D	0.87969	0.2735	10	0.66056	D	0.02	-13.9965	13.5979	0.62002	0.0:0.157:0.843:0.0	.	277;277	Q13501;E7EMC7	SQSTM_HUMAN;.	I	193;277;133;193;277;193	ENSP00000366128:S193I;ENSP00000374455:S277I;ENSP00000385553:S193I;ENSP00000424477:S277I;ENSP00000353944:S193I	ENSP00000353944:S193I	S	+	2	0	SQSTM1	179192713	0.042000	0.20092	0.195000	0.23364	0.168000	0.22595	1.631000	0.37092	1.225000	0.43566	0.491000	0.48974	AGC	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319344.1		+	ENST00000389805.4	Missense_Mutation	SNP	5 : 179260107 - 179260107 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	42
ZNF217	7764	broad.mit.edu	37	20	52198796	52198796	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:52198796T>G	ENST00000371471.2	-	2	995	c.570A>C	c.(568-570)caA>caC	p.Q190H	ZNF217_ENST00000302342.3_Missense_Mutation_p.Q190H			O75362	ZN217_HUMAN	zinc finger protein 217	190					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TCTCCAAGCCTTGCTGCAGTT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	163	163			NA	NA	20		NA											NA				52198796		2203	4300	6503	SO:0001583	missense			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940	7764	7764		Zinc fingers, C2H2-type	13009	protein-coding gene	gene with protein product		602967			NA	9671742	Standard	NM_006526	NM_006526	NA	Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.570A>C	20.37:g.52198796T>G	ENSP00000360526:p.Gln190His	NA	E1P5Y6|Q14DB8	37	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.310239	0.60414	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.10288	2.89;2.89	5.15	-10.3	0.00346	.	0.432865	0.11934	U	0.515418	T	0.12390	0.0301	L	0.32530	0.975	0.38519	D	0.948665	D	0.62365	0.991	P	0.57324	0.818	T	0.57820	-0.7745	10	0.49607	T	0.09	-11.1182	12.6688	0.56857	0.0:0.622:0.1:0.2781	.	190	O75362	ZN217_HUMAN	H	190	ENSP00000360526:Q190H;ENSP00000304308:Q190H	ENSP00000304308:Q190H	Q	-	3	2	ZNF217	51632203	0.000000	0.05858	0.234000	0.24042	0.679000	0.39708	-1.241000	0.02911	-2.023000	0.00937	0.482000	0.46254	CAA	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079757.2		-	ENST00000371471.2	Missense_Mutation	SNP	20 : 52198796 - 52198796 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1105	52
MUC6	4588	broad.mit.edu	37	11	1028689	1028689	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1028689C>A	ENST00000421673.2	-	13	1598	c.1548G>T	c.(1546-1548)caG>caT	p.Q516H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	516	VWFD 2.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGACATAGGCCTGGAAGATGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	41	40			NA	NA	11		NA											NA				1028689		2089	4202	6291	SO:0001583	missense			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956	4588	4588		Mucins	7517	protein-coding gene	gene with protein product		158374	mucin 6, gastric		NA	7680650	Standard	XM_290540	NM_005961	NA	Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.1548G>T	11.37:g.1028689C>A	ENSP00000406861:p.Gln516His	NA	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.371993	0.24857	.	.	ENSG00000184956	ENST00000421673	T	0.60548	0.18	4.34	2.37	0.29283	von Willebrand factor, type D domain (3);	0.000000	0.29987	U	0.010684	T	0.67192	0.2867	L	0.55743	1.74	0.30497	N	0.770732	D	0.89917	1.0	D	0.79784	0.993	T	0.65961	-0.6041	10	0.87932	D	0	.	9.1739	0.37100	0.0:0.8102:0.0:0.1898	.	516	Q6W4X9	MUC6_HUMAN	H	516	ENSP00000406861:Q516H	ENSP00000406861:Q516H	Q	-	3	2	MUC6	1018689	0.040000	0.19996	0.834000	0.33040	0.213000	0.24496	0.097000	0.15168	0.940000	0.37473	0.313000	0.20887	CAG	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382120.2		-	ENST00000421673.2	Missense_Mutation	SNP	11 : 1028689 - 1028689 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	117	14
CASC1	55259	broad.mit.edu	37	12	25263104	25263104	+	Missense_Mutation	SNP	C	C	T	rs139550496		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25263104C>T	ENST00000354189.5	-	15	2059	c.2024G>A	c.(2023-2025)aGc>aAc	p.S675N	CASC1_ENST00000395987.3_Missense_Mutation_p.S617N|CASC1_ENST00000537577.1_Missense_Mutation_p.S499N|CASC1_ENST00000395990.2_Missense_Mutation_p.S571N|CASC1_ENST00000545133.1_Missense_Mutation_p.S552N|CASC1_ENST00000320267.9_Missense_Mutation_p.S611N	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	611										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			GTTCCACTTGCTCCAACCAAA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	106	104			NA	NA	12		NA											NA				25263104		2203	4300	6503	SO:0001583	missense			AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307	55259	55259		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	29599	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 54				NA	14583591	Standard	NM_018272	NM_018272	NA	Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000354189.5:c.2024G>A	12.37:g.25263104C>T	ENSP00000346126:p.Ser675Asn	NA	Q17RL2|Q4G171|Q5U5K5|Q9NV50	37	CCDS41763.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418820	0.83559	.	.	ENSG00000118307	ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000537577;ENST00000545133;ENST00000389246	T;T;T;T;T	0.80566	-1.39;-0.45;-0.45;-0.99;-0.95	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.89591	0.6759	M	0.75777	2.31	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.998;0.999;0.996;0.998	D	0.90453	0.4440	10	0.72032	D	0.01	-16.7377	17.6995	0.88290	0.0:1.0:0.0:0.0	.	499;552;675;611;617	F5H555;F5H6T6;Q6TDU7-3;Q6TDU7;F8W8F9	.;.;.;CASC1_HUMAN;.	N	675;617;611;571;499;552;421	ENSP00000346126:S675N;ENSP00000379310:S617N;ENSP00000313141:S611N;ENSP00000379313:S571N;ENSP00000437373:S552N	ENSP00000313141:S611N	S	-	2	0	CASC1	25154371	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	5.739000	0.68622	2.540000	0.85666	0.655000	0.94253	AGC	CASC1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316764.1		-	ENST00000354189.5	Missense_Mutation	SNP	12 : 25263104 - 25263104 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	339	67
AJAP1	55966	broad.mit.edu	37	1	4772030	4772030	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:4772030C>A	ENST00000378191.4	+	2	481	c.100C>A	c.(100-102)Ctc>Atc	p.L34I	AJAP1_ENST00000378190.3_Missense_Mutation_p.L34I|AJAP1_ENST00000466761.1_3'UTR	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	34					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CATGTTTCAGCTCGCCGTGGA	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	103	95			NA	NA	1		NA											NA				4772030		2200	4297	6497	SO:0001583	missense			AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581	55966	55966			30801	protein-coding gene	gene with protein product	transmembrane protein SHREW1	610972			NA	14595118	Standard	NM_018836	NM_001042478	NA	Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.100C>A	1.37:g.4772030C>A	ENSP00000367433:p.Leu34Ile	NA	Q9Y229	37	CCDS54.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772168	0.90108	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.60797	0.16;0.16	5.08	5.08	0.68730	.	0.077313	0.50627	D	0.000116	T	0.65760	0.2722	L	0.32530	0.975	0.53005	D	0.999967	D	0.76494	0.999	D	0.80764	0.994	T	0.68006	-0.5523	10	0.59425	D	0.04	-18.5667	13.9496	0.64109	0.0:1.0:0.0:0.0	.	34	Q9UKB5	AJAP1_HUMAN	I	34	ENSP00000367432:L34I;ENSP00000367433:L34I	ENSP00000367432:L34I	L	+	1	0	AJAP1	4671890	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	4.198000	0.58419	2.322000	0.78497	0.563000	0.77884	CTC	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000001542.3		+	ENST00000378191.4	Missense_Mutation	SNP	1 : 4772030 - 4772030 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1927	183
ATG9A	79065	broad.mit.edu	37	2	220088899	220088899	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220088899G>A	ENST00000409618.1	-	8	1633	c.1194C>T	c.(1192-1194)gaC>gaT	p.D398D	ATG9A_ENST00000409422.1_Silent_p.D337D|ATG9A_ENST00000361242.4_Silent_p.D398D|ATG9A_ENST00000396761.2_Silent_p.D398D			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	398					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACACATCTTCGTCATAAATGG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	170	167			NA	NA	2		NA											NA				220088899		2131	4236	6367	SO:0001819	synonymous_variant			AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925	79065	79065			22408	protein-coding gene	gene with protein product		612204	APG9 autophagy 9-like 1 (S. cerevisiae), ATG9 autophagy related 9 homolog A (S. cerevisiae)	APG9L1	NA		Standard	NM_024085	NM_024085	NA	Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.1194C>T	2.37:g.220088899G>A		NA	Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	37	CCDS42820.1																																																																																			ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335930.1		-	ENST00000409618.1	Silent	SNP	2 : 220088899 - 220088899 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1512	278
C3AR1	719	broad.mit.edu	37	12	8212009	8212009	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8212009A>G	ENST00000307637.4	-	2	976	c.773T>C	c.(772-774)gTa>gCa	p.V258A		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	258					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		AGGTTTAAATACATTAGAATA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	66	65			NA	NA	12		NA											NA				8212009		2203	4300	6503	SO:0001583	missense			U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860	719	719		Complement system, GPCR / Class A : Complement component receptors	1319	protein-coding gene	gene with protein product		605246			NA	8605247	Standard		NM_004054	NA	Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.773T>C	12.37:g.8212009A>G	ENSP00000302079:p.Val258Ala	NA	O43771|Q92868	37	CCDS8588.1	.	.	.	.	.	.	.	.	.	.	A	1.748	-0.489924	0.04322	.	.	ENSG00000171860	ENST00000307637	T	0.71222	-0.55	3.99	-1.59	0.08453	GPCR, rhodopsin-like superfamily (1);	2.097880	0.02844	N	0.128232	T	0.55497	0.1924	N	0.24115	0.695	0.09310	N	1	B	0.18461	0.028	B	0.16722	0.016	T	0.45234	-0.9275	10	0.72032	D	0.01	.	4.1551	0.10256	0.399:0.3827:0.2183:0.0	.	258	Q16581	C3AR_HUMAN	A	258	ENSP00000302079:V258A	ENSP00000302079:V258A	V	-	2	0	C3AR1	8103276	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	1.092000	0.30927	-0.370000	0.08016	-0.250000	0.11733	GTA	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400254.1		-	ENST00000307637.4	Missense_Mutation	SNP	12 : 8212009 - 8212009 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	391	55
DNAH1	25981	broad.mit.edu	37	3	52393941	52393941	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52393941C>A	ENST00000420323.2	+	27	4678	c.4417C>A	c.(4417-4419)Ctg>Atg	p.L1473M		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1473	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCTCAGTGATCTGGTGGCCCT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	163	161			NA	NA	3		NA											NA				52393941		2131	4242	6373	SO:0001583	missense			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841	25981	25981		Axonemal dyneins	2940	protein-coding gene	gene with protein product		603332	dynein, axonemal, heavy polypeptide 1		NA	8812413, 9256245	Standard	NM_015512	NM_015512	NA	Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.4417C>A	3.37:g.52393941C>A	ENSP00000401514:p.Leu1473Met	NA	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494211	0.44352	.	.	ENSG00000114841	ENST00000420323	T	0.58210	0.35	5.13	3.33	0.38152	.	0.000000	0.42294	D	0.000740	T	0.68952	0.3057	M	0.85777	2.775	0.43808	D	0.996361	D	0.65815	0.995	P	0.61722	0.893	T	0.69658	-0.5086	10	0.46703	T	0.11	.	9.803	0.40775	0.0:0.7571:0.0:0.2429	.	1473	C9JXH6	.	M	1473	ENSP00000401514:L1473M	ENSP00000401514:L1473M	L	+	1	2	DNAH1	52368981	0.787000	0.28750	1.000000	0.80357	0.763000	0.43281	0.671000	0.25172	0.744000	0.32741	0.561000	0.74099	CTG	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350816.1		+	ENST00000420323.2	Missense_Mutation	SNP	3 : 52393941 - 52393941 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1143	229
SMG6	23293	broad.mit.edu	37	17	2202719	2202719	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2202719G>T	ENST00000263073.6	-	2	1378	c.1328C>A	c.(1327-1329)tCt>tAt	p.S443Y	SMG6_ENST00000544865.1_Missense_Mutation_p.S412Y	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	NA	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCAACTCCGAGATCCCTTACT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(59;28 1088 11621 25887 46638 50814)							NA				0													97	109	105			NA	NA	17		NA											NA				2202719		2203	4300	6503	SO:0001583	missense			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366	23293	23293			17809	protein-coding gene	gene with protein product	EST1 telomerase component homolog A (S. cerevisiae)	610963	chromosome 17 open reading frame 31, smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)	C17orf31	NA	12676087, 12699629	Standard		NM_017575	NA	Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.1328C>A	17.37:g.2202719G>T	ENSP00000263073:p.Ser443Tyr	NA	O94837|Q86VH6|Q9UF60	37	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001912	0.54254	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.09538	2.97;2.97	5.54	5.54	0.83059	.	0.498560	0.22116	N	0.064408	T	0.08802	0.0218	N	0.19112	0.55	0.26833	N	0.968548	P	0.36789	0.57	B	0.36885	0.235	T	0.18681	-1.0329	10	0.66056	D	0.02	-3.384	12.7756	0.57445	0.0749:0.0:0.9251:0.0	.	443	Q86US8	EST1A_HUMAN	Y	443;412	ENSP00000263073:S443Y;ENSP00000443920:S412Y	ENSP00000263073:S443Y	S	-	2	0	SMG6	2149469	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	4.268000	0.58883	2.592000	0.87571	0.650000	0.86243	TCT	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437826.3		-	ENST00000263073.6	Missense_Mutation	SNP	17 : 2202719 - 2202719 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1055	163
IGFL3	388555	broad.mit.edu	37	19	46627247	46627247	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46627247G>T	ENST00000341415.2	-	3	270	c.246C>A	c.(244-246)tgC>tgA	p.C82*	AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3	82						extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		ACTCGGGACAGCAGAGCTCAA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	113	106			NA	NA	19		NA											NA				46627247		2185	4300	6485	SO:0001587	stop_gained			AY358434	CCDS33058.1	19q13.32	2006-07-14				ENSG00000188624	388555	388555			32930	protein-coding gene	gene with protein product		610546			NA	14702039	Standard	NM_207393	NM_207393	NA	Approved	UNQ483	uc002pea.1	Q6UXB1		ENST00000341415.2:c.246C>A	19.37:g.46627247G>T	ENSP00000344860:p.Cys82*	NA		37	CCDS33058.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.745593	0.49151	.	.	ENSG00000188624	ENST00000341415	.	.	.	1.65	1.65	0.23941	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.2435	6.749	0.23477	0.0:0.0:1.0:0.0	.	.	.	.	X	82	.	ENSP00000344860:C82X	C	-	3	2	IGFL3	51319087	0.984000	0.35163	0.825000	0.32803	0.111000	0.19643	1.977000	0.40589	1.217000	0.43442	0.411000	0.27672	TGC	IGFL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421323.1		-	ENST00000341415.2	Nonsense_Mutation	SNP	19 : 46627247 - 46627247 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1148	228
SETDB1	9869	broad.mit.edu	37	1	150915038	150915038	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150915038G>T	ENST00000271640.5	+	6	737		c.e6-1		SETDB1_ENST00000368962.2_Splice_Site|SETDB1_ENST00000368969.4_Splice_Site|SETDB1_ENST00000368963.1_Splice_Site|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTCTTCTATAGGAACCTTGAG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	92	93			NA	NA	1		NA											NA				150915038		2203	4300	6503	SO:0001630	splice_region_variant			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379	9869	9869		Chromatin-modifying enzymes / K-methyltransferases, Tudor domain containing	10761	protein-coding gene	gene with protein product	tudor domain containing 21	604396			NA	10343109	Standard		NM_001145415	NA	Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.548-1G>T	1.37:g.150915038G>T		NA	A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	37	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.970091	0.53614	.	.	ENSG00000143379	ENST00000271640;ENST00000368962;ENST00000534805;ENST00000368969;ENST00000368963;ENST00000498193	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7031	0.69168	0.0:0.1458:0.8542:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SETDB1	149181662	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	4.689000	0.61723	2.906000	0.99361	0.655000	0.94253	.	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084717.2	Intron	+	ENST00000271640.5	Splice_Site	SNP	1 : 150915038 - 150915038 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	632	45
CBFA2T2	9139	broad.mit.edu	37	20	32212784	32212784	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32212784C>A	ENST00000492345.1	+	8	1532	c.847C>A	c.(847-849)Cta>Ata	p.L283I	CBFA2T2_ENST00000375279.2_Missense_Mutation_p.L312I|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.L322I|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.L303I|CBFA2T2_ENST00000346541.3_Missense_Mutation_p.L312I|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.L283I			O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	312						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						CAACAAGATGCTAGAGCATCG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(174;142 1955 14837 21276 28041)							NA				0													93	79	84			NA	NA	20		NA											NA				32212784		2203	4300	6503	SO:0001583	missense			AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699	9139	9139		Zinc fingers, MYND-type	1536	protein-coding gene	gene with protein product		603672			NA	9790752	Standard	NM_001032999	XM_006723886	NA	Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000492345.1:c.847C>A	20.37:g.32212784C>A	ENSP00000433270:p.Leu283Ile	NA	B2RAE6|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	37		.	.	.	.	.	.	.	.	.	.	C	12.59	1.984649	0.35036	.	.	ENSG00000078699	ENST00000397803;ENST00000375279;ENST00000342704;ENST00000346541;ENST00000397800;ENST00000359606	T;T;T;T;T	0.45276	0.9;0.91;0.9;0.9;1.49	5.73	0.186	0.15105	.	0.492494	0.21336	N	0.076220	T	0.14570	0.0352	N	0.08118	0	0.49051	D	0.999741	P;P	0.41848	0.651;0.763	B;B	0.36845	0.212;0.234	T	0.12041	-1.0563	10	0.22109	T	0.4	-5.9758	1.2921	0.02062	0.3155:0.3121:0.2058:0.1666	.	312;303	O43439;F8W6D7	MTG8R_HUMAN;.	I	86;312;303;312;283;322	ENSP00000364428:L312I;ENSP00000345810:L303I;ENSP00000262653:L312I;ENSP00000380902:L283I;ENSP00000352622:L322I	ENSP00000345810:L303I	L	+	1	2	CBFA2T2	31676445	0.110000	0.22057	0.990000	0.47175	0.870000	0.49936	-0.432000	0.06956	-0.172000	0.10779	-0.182000	0.12963	CTA	CBFA2T2-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000078709.3		+	ENST00000492345.1	Missense_Mutation	SNP	20 : 32212784 - 32212784 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	68
PCDHA7	56141	broad.mit.edu	37	5	140214937	140214937	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140214937C>T	ENST00000525929.1	+	1	969	c.969C>T	c.(967-969)gtC>gtT	p.V323V	PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.V323V|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018910.2	NP_061733.1			protocadherin alpha 7	NA										NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGAGGCTGTCGATAAAGGCT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(160;258 2013 5070 22440 28951)							NA				0													138	122	127			NA	NA	5		NA											NA				140214937		2203	4300	6503	SO:0001819	synonymous_variant			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963	56141	56141		Cadherins / Protocadherins : Clustered	8673	other	complex locus constituent	KIAA0345-like 7, ortholog to mouse CNR4	606313		CNRS4	NA	10380929, 10662547	Standard	NM_018910	NM_018910	NA	Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.969C>T	5.37:g.140214937C>T		NA		37	CCDS54918.1																																																																																			PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372887.2		+	ENST00000525929.1	Silent	SNP	5 : 140214937 - 140214937 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	486	80
TACC2	10579	broad.mit.edu	37	10	123842597	123842597	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123842597C>T	ENST00000369005.1	+	4	922	c.582C>T	c.(580-582)atC>atT	p.I194I	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Silent_p.I194I|TACC2_ENST00000334433.3_Silent_p.I194I|TACC2_ENST00000515603.1_Silent_p.I194I|TACC2_ENST00000453444.2_Silent_p.I194I	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	194						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCAGTGGCATCGACCAGTCAC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	30	31			NA	NA	10		NA											NA				123842597		2203	4300	6503	SO:0001819	synonymous_variant			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162	10579	10579			11523	protein-coding gene	gene with protein product		605302			NA	14767476	Standard		XM_005269388	NA	Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.582C>T	10.37:g.123842597C>T		NA	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	37	CCDS7626.1																																																																																			TACC2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090004.1		+	ENST00000369005.1	Silent	SNP	10 : 123842597 - 123842597 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	202	18
FBXW8	26259	broad.mit.edu	37	12	117423069	117423069	+	Silent	SNP	C	C	T	rs138454816	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117423069C>T	ENST00000455858.2	+	6	769	c.696C>T	c.(694-696)caC>caT	p.H232H	FBXW8_ENST00000551773.1_3'UTR|RP11-231I16.1_ENST00000548738.1_RNA|FBXW8_ENST00000309909.5_Silent_p.H298H	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	298							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		GTTTTGAGCACGATGCAAGAA	0.453		NA											C	23	0.01	0.04	0.01	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0105	0.9979	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0								C	,	157,4249	107.8+/-146.2	5,147,2051	139	123	129		696,894	-7.3	0.7	12	dbSNP_134	129	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous,coding-synonymous	FBXW8	NM_012174.1,NM_153348.2	,	5,149,6349	TT,TC,CC	NA	0.0233,3.5633,1.2225	,	232/533,298/599	117423069	159,12847	2203	4300	6503	SO:0001819	synonymous_variant			AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13			26259	26259		F-boxes / WD-40 domains, WD repeat domain containing	13597	protein-coding gene	gene with protein product		609073	F-box only protein 29, F-box and WD-40 domain protein 8	FBXO29	NA	10531035, 10531037	Standard	NM_012174	NM_012174	NA	Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	ENST00000455858.2:c.696C>T	12.37:g.117423069C>T		NA	Q9UK95	37	CCDS44988.1																																																																																			FBXW8-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403562.1		+	ENST00000455858.2	Silent	SNP	12 : 117423069 - 117423069 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	269	51
CTD-3074O7.11	0	broad.mit.edu	37	11	66294149	66294149	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66294149C>T	ENST00000419755.3	+	13	1399	c.1321C>T	c.(1321-1323)Cgt>Tgt	p.R441C	BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000455748.2_Missense_Mutation_p.R307C|BBS1_ENST00000318312.7_Missense_Mutation_p.R404C|ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000393994.2_Missense_Mutation_p.R275C						NA											NA						GATCCTGAAGCGTACAGCAGT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	161	165			NA	NA	11		NA											NA				66294149		2200	4295	6495	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000419755.3:c.1321C>T	11.37:g.66294149C>T	ENSP00000398526:p.Arg441Cys	NA		37		.	.	.	.	.	.	.	.	.	.	C	21.4	4.138372	0.77775	.	.	ENSG00000256349;ENSG00000174483;ENSG00000174483;ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000455748;ENST00000393994	D;D;D;D	0.98996	-5.27;-5.31;-5.12;-5.2	4.69	3.69	0.42338	.	.	.	.	.	D	0.99199	0.9722	M	0.88906	2.99	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;0.999;1.0;1.0;1.0	D	0.98674	1.0689	9	0.87932	D	0	.	9.5267	0.39169	0.3191:0.6809:0.0:0.0	.	79;307;275;292;404;441	B4DH75;E7EQH1;Q32MM9;Q4G0L2;Q8NFJ9;Q8NFJ9-2	.;.;.;.;BBS1_HUMAN;.	C	441;404;307;275	ENSP00000398526:R441C;ENSP00000317469:R404C;ENSP00000405764:R307C;ENSP00000377563:R275C	ENSP00000317469:R404C	R	+	1	0	BBS1;CTD-3074O7.11	66050725	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	2.304000	0.43655	2.548000	0.85928	0.655000	0.94253	CGT	CTD-3074O7.11-001	KNOWN	basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000395848.2		+	ENST00000419755.3	Missense_Mutation	SNP	11 : 66294149 - 66294149 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	612	51
WDR33	55339	broad.mit.edu	37	2	128471362	128471362	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128471362G>A	ENST00000322313.4	-	18	3261	c.3103C>T	c.(3103-3105)Cga>Tga	p.R1035*		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1035					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGTCCTCCTCGCCCCTCAAAT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	125	124			NA	NA	2		NA											NA				128471362		2203	4300	6503	SO:0001587	stop_gained				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709	55339	55339		WD repeat domain containing	25651	protein-coding gene	gene with protein product					NA	11162572	Standard	NM_018383	NM_001006622	NA	Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3103C>T	2.37:g.128471362G>A	ENSP00000325377:p.Arg1035*	NA	Q05DP8|Q53FG9|Q587J1|Q9NUL1	37	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	G	41	9.042449	0.99046	.	.	ENSG00000136709	ENST00000322313	.	.	.	5.81	4.86	0.63082	.	0.068596	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.982	13.5976	0.62000	0.0:0.0:0.7371:0.2629	.	.	.	.	X	1035	.	ENSP00000325377:R1035X	R	-	1	2	WDR33	128187832	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	1.170000	0.31883	2.738000	0.93877	0.655000	0.94253	CGA	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331141.2		-	ENST00000322313.4	Nonsense_Mutation	SNP	2 : 128471362 - 128471362 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1457	230
CACNG5	27091	broad.mit.edu	37	17	64881352	64881352	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:64881352T>C	ENST00000533854.1	+	6	1060	c.823T>C	c.(823-825)Tgc>Cgc	p.C275R	CACNG5_ENST00000307139.3_Missense_Mutation_p.C275R			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	275				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CTCTTCACCCTGCTGAGCCTC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	49	52			NA	NA	17		NA											NA				64881352		2200	4293	6493	SO:0001583	missense			AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429	27091	27091		Calcium channel subunits	1409	protein-coding gene	gene with protein product		606405			NA	10613843	Standard	NM_014404, NM_145811	NM_145811	NA	Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.823T>C	17.37:g.64881352T>C	ENSP00000436836:p.Cys275Arg	NA	A8K2A6|Q547R3|Q8WXS7|Q9UHM3	37	CCDS11665.1	.	.	.	.	.	.	.	.	.	.	T	18.94	3.729119	0.69074	.	.	ENSG00000075429	ENST00000533854;ENST00000307139	T;T	0.55413	0.52;0.52	3.27	3.27	0.37495	.	.	.	.	.	T	0.35682	0.0940	N	0.19112	0.55	0.80722	D	1	P	0.47350	0.894	B	0.38562	0.276	T	0.41963	-0.9479	9	0.87932	D	0	.	11.8613	0.52467	0.0:0.0:0.0:1.0	.	275	Q9UF02	CCG5_HUMAN	R	275	ENSP00000436836:C275R;ENSP00000303092:C275R	ENSP00000303092:C275R	C	+	1	0	CACNG5	62311814	1.000000	0.71417	0.999000	0.59377	0.919000	0.55068	7.114000	0.77103	1.744000	0.51775	0.491000	0.48974	TGC	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389882.1		+	ENST00000533854.1	Missense_Mutation	SNP	17 : 64881352 - 64881352 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	456	76
C6	729	broad.mit.edu	37	5	41160256	41160256	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41160256C>A	ENST00000263413.3	-	11	1936	c.1672G>T	c.(1672-1674)Gat>Tat	p.D558Y	C6_ENST00000337836.5_Missense_Mutation_p.D558Y	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	558					complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GATTTATAATCTGGAGACTGT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	91	91			NA	NA	5		NA											NA				41160256		2203	4300	6503	SO:0001583	missense			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537	729	729		Complement system	1339	protein-coding gene	gene with protein product		217050			NA		Standard		NM_001115131	NA	Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1672G>T	5.37:g.41160256C>A	ENSP00000263413:p.Asp558Tyr	NA		37	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751077	0.69533	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.62639	0.01;0.01	6.06	6.06	0.98353	.	1.329030	0.04512	N	0.382988	D	0.83566	0.5282	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	T	0.71902	-0.4452	10	0.72032	D	0.01	-18.6999	20.6208	0.99490	0.0:1.0:0.0:0.0	.	558	P13671	CO6_HUMAN	Y	558	ENSP00000338861:D558Y;ENSP00000263413:D558Y	ENSP00000263413:D558Y	D	-	1	0	C6	41196013	1.000000	0.71417	0.489000	0.27452	0.316000	0.28119	7.459000	0.80802	2.882000	0.98803	0.655000	0.94253	GAT	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000211592.1		-	ENST00000263413.3	Missense_Mutation	SNP	5 : 41160256 - 41160256 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	423	91
VAT1	10493	broad.mit.edu	37	17	41169881	41169881	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41169881G>T	ENST00000420567.3	-	4	576	c.431C>A	c.(430-432)cCc>cAc	p.P144H	VAT1_ENST00000355653.3_Missense_Mutation_p.P278H|VAT1_ENST00000587173.1_Missense_Mutation_p.P210H			Q99536	VAT1_HUMAN	vesicle amine transport 1	278						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TTTGCCCATGGGTTTCAGGAG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	93	98			NA	NA	17		NA											NA				41169881		2203	4300	6503	SO:0001583	missense			U18009	CCDS11451.1	17q21	2013-08-23	2013-08-23			ENSG00000108828	10493	10493			16919	protein-coding gene	gene with protein product		604631	vesicle amine transport protein 1 homolog (T. californica)		NA	7774926, 8938427	Standard	NM_006373	NM_006373	NA	Approved	VATI, FLJ20230	uc002icm.1	Q99536		ENST00000420567.3:c.431C>A	17.37:g.41169881G>T	ENSP00000408553:p.Pro144His	NA	A8K345|Q13035|Q5BKZ7|Q96A39|Q9BUT8	37		.	.	.	.	.	.	.	.	.	.	G	25.0	4.588434	0.86851	.	.	ENSG00000108828	ENST00000355653;ENST00000542468;ENST00000420567	T;T	0.04706	3.57;3.57	5.38	5.38	0.77491	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.050173	0.85682	D	0.000000	T	0.24661	0.0598	M	0.84585	2.705	0.80722	D	1	D;D	0.56746	0.977;0.976	P;D	0.66979	0.679;0.948	T	0.01692	-1.1294	10	0.30854	T	0.27	-4.7138	19.1326	0.93413	0.0:0.0:1.0:0.0	.	210;278	B4DPX4;Q99536	.;VAT1_HUMAN	H	278;185;144	ENSP00000347872:P278H;ENSP00000408553:P144H	ENSP00000347872:P278H	P	-	2	0	VAT1	38423407	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.848000	0.99507	2.515000	0.84797	0.462000	0.41574	CCC	VAT1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000453104.1		-	ENST00000420567.3	Missense_Mutation	SNP	17 : 41169881 - 41169881 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	298	45
LRP2	4036	broad.mit.edu	37	2	170058137	170058137	+	Splice_Site	SNP	C	C	T	rs80338748		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170058137C>T	ENST00000263816.3	-	44	8738		c.e44+1			NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	NA					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GATAAACTTACGGCAATTTTT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CS073498	LRP2	S	rs80338748						105	104	104			NA	NA	2		NA											NA				170058137		2203	4300	6503	SO:0001630	splice_region_variant				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479	4036	4036		Low density lipoprotein receptors	6694	protein-coding gene	gene with protein product	megalin	600073			NA	7959795	Standard	NM_004525	NM_004525	NA	Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8452+1G>A	2.37:g.170058137C>T		NA	O00711|Q16215	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	33	5.242369	0.95272	.	.	ENSG00000081479	ENST00000263816	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.327	0.98704	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRP2	169766383	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.701000	0.84566	2.794000	0.96219	0.650000	0.86243	.	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255231.2	Intron	-	ENST00000263816.3	Splice_Site	SNP	2 : 170058137 - 170058137 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	375	26
GBP2	2634	broad.mit.edu	37	1	89587545	89587545	+	Silent	SNP	C	C	T	rs140687152	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89587545C>T	ENST00000370466.3	-	2	373	c.105G>A	c.(103-105)acG>acA	p.T35T		NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	35					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		CCACAGGCTGCGTAATTGCAG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		6,4400	11.4+/-27.6	0,6,2197	158	145	150		105	-6.9	0	1	dbSNP_134	150	0,8600		0,0,4300	no	coding-synonymous	GBP2	NM_004120.3		0,6,6497	TT,TC,CC	NA	0.0,0.1362,0.0461		35/592	89587545	6,13000	2203	4300	6503	SO:0001819	synonymous_variant			BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645	2634	2634			4183	protein-coding gene	gene with protein product		600412			NA	1715024	Standard	NM_004120	NM_004120	NA	Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.105G>A	1.37:g.89587545C>T		NA	Q6GPH0|Q6IAU2|Q86TB0	37	CCDS719.1																																																																																			GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029406.2		-	ENST00000370466.3	Silent	SNP	1 : 89587545 - 89587545 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	639	145
GRAP	10750	broad.mit.edu	37	17	18925281	18925281	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18925281C>T	ENST00000573099.1	-	4	546	c.476G>A	c.(475-477)tGc>tAc	p.C159Y	SLC5A10_ENST00000317977.6_3'UTR|GRAP_ENST00000395635.1_Silent_p.V186V|GRAP_ENST00000284154.5_Silent_p.V215V			Q13588	GRAP_HUMAN	GRB2-related adaptor protein	0	SH3 2.				cell-cell signaling|Ras protein signal transduction	cytoplasm	SH3/SH2 adaptor activity			large_intestine(1)|urinary_tract(1)	2	all_cancers(12;0.0183)					CTCACAGGTGCACGGGCTGCA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													8	11	10			NA	NA	17		NA											NA				18925281		2187	4286	6473	SO:0001583	missense			U52518	CCDS11202.1	17p11.2	2013-02-14			ENSG00000154016	ENSG00000154016	10750	10750		SH2 domain containing	4562	protein-coding gene	gene with protein product		604330			NA	8647802, 8995379	Standard	NM_006613	NM_006613	NA	Approved		uc002guy.3	Q13588	OTTHUMG00000059436	ENST00000573099.1:c.476G>A	17.37:g.18925281C>T	ENSP00000459833:p.Cys159Tyr	NA		37																																																																																				GRAP-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000440772.1		-	ENST00000573099.1	Missense_Mutation	SNP	17 : 18925281 - 18925281 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	108	17
PRICKLE1	144165	broad.mit.edu	37	12	42862549	42862549	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:42862549A>G	ENST00000455697.1	-	5	752	c.467T>C	c.(466-468)tTt>tCt	p.F156S	PRICKLE1_ENST00000345127.3_Missense_Mutation_p.F156S|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.F156S|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.F156S|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.F156S	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	156	LIM zinc-binding 1.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GAAACAGACAAAACAGGATGG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	90	90			NA	NA	12		NA											NA				42862549		2203	4300	6503	SO:0001583	missense			AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174	NA	144165			17019	protein-coding gene	gene with protein product		608500	prickle-like 1 (Drosophila)		NA	12525887, 18976727	Standard		NM_153026	NA	Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.467T>C	12.37:g.42862549A>G	ENSP00000401060:p.Phe156Ser	NA	Q14C83|Q71QF8|Q96N00	37	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	A	33	5.193653	0.94960	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240;ENST00000552108	D;D;D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33;-3.33;-3.22	5.56	5.56	0.83823	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.98444	0.9482	H	0.99746	4.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99758	1.1020	10	0.87932	D	0	-16.4253	16.0092	0.80385	1.0:0.0:0.0:0.0	.	156	Q96MT3	PRIC1_HUMAN	S	156	ENSP00000401060:F156S;ENSP00000398947:F156S;ENSP00000448359:F156S;ENSP00000345064:F156S;ENSP00000449819:F156S;ENSP00000447870:F156S	ENSP00000345064:F156S	F	-	2	0	PRICKLE1	41148816	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.910000	0.92685	2.240000	0.73641	0.533000	0.62120	TTT	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404069.1		-	ENST00000455697.1	Missense_Mutation	SNP	12 : 42862549 - 42862549 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	374	77
GRIK2	2898	broad.mit.edu	37	6	102266352	102266352	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:102266352C>A	ENST00000369138.1	+	9	1801	c.1311C>A	c.(1309-1311)acC>acA	p.T437T	GRIK2_ENST00000369134.4_Silent_p.T388T|GRIK2_ENST00000421544.1_Silent_p.T437T|GRIK2_ENST00000369137.3_Silent_p.T437T|GRIK2_ENST00000318991.6_Silent_p.T437T|GRIK2_ENST00000413795.1_Silent_p.T437T	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	437					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TTGTTACCACCATTTTGGTAA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	163	169			NA	NA	6		NA											NA				102266352		2203	4300	6503	SO:0001819	synonymous_variant				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418	2898	2898		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4580	protein-coding gene	gene with protein product		138244		GLUR6	NA	8034316	Standard		NM_021956	NA	Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000369138.1:c.1311C>A	6.37:g.102266352C>A		NA	A6NMY9|B5MCV0|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	37	CCDS55045.1																																																																																			GRIK2-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043720.1		+	ENST00000369138.1	Silent	SNP	6 : 102266352 - 102266352 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	165	29
SEMA4B	10509	broad.mit.edu	37	15	90771368	90771368	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90771368C>T	ENST00000411539.2	+	14	2267	c.2007C>T	c.(2005-2007)agC>agT	p.S669S	SEMA4B_ENST00000379122.3_Silent_p.S664S|SEMA4B_ENST00000332496.6_Silent_p.S669S	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	NA										NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TGGTAGCCAGCTACTGCCCAG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	51	49			NA	NA	15		NA											NA				90771368		2070	4189	6259	SO:0001819	synonymous_variant			AB051532	CCDS45347.1	15q25	2008-07-18					10509	10509		Semaphorins	10730	protein-coding gene	gene with protein product				SEMAC	NA	7748561	Standard	NM_198925	NM_020210	NA	Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.2007C>T	15.37:g.90771368C>T		NA		37	CCDS45347.1																																																																																			SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416810.1		+	ENST00000411539.2	Silent	SNP	15 : 90771368 - 90771368 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	106	19
ANKRD11	29123	broad.mit.edu	37	16	89348524	89348524	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89348524G>A	ENST00000301030.4	-	9	4886	c.4426C>T	c.(4426-4428)Cac>Tac	p.H1476Y	ANKRD11_ENST00000378330.2_Missense_Mutation_p.H1476Y	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1476	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTGTCCCGGTGCctctccttc	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	60	74			NA	NA	16		NA											NA				89348524		2198	4300	6498	SO:0001583	missense			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522	29123	29123		Ankyrin repeat domain containing	21316	protein-coding gene	gene with protein product		611192			NA	11483580	Standard	NM_013275	NM_001256182	NA	Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.4426C>T	16.37:g.89348524G>A	ENSP00000301030:p.His1476Tyr	NA	Q6NTG1|Q6QMF8	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.397951	0.25205	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.37235	1.21;1.21	5.11	5.11	0.69529	.	0.312185	0.31847	N	0.006979	T	0.36690	0.0976	L	0.55103	1.725	0.80722	D	1	P	0.45283	0.855	B	0.37650	0.255	T	0.40251	-0.9573	10	0.62326	D	0.03	.	18.4974	0.90870	0.0:0.0:1.0:0.0	.	1476	Q6UB99	ANR11_HUMAN	Y	1476	ENSP00000301030:H1476Y;ENSP00000367581:H1476Y	ENSP00000301030:H1476Y	H	-	1	0	ANKRD11	87876025	1.000000	0.71417	0.143000	0.22291	0.004000	0.04260	5.766000	0.68843	2.530000	0.85305	0.563000	0.77884	CAC	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000430462.3		-	ENST00000301030.4	Missense_Mutation	SNP	16 : 89348524 - 89348524 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	62
SLC25A52	147407	broad.mit.edu	37	18	29339989	29339989	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29339989G>A	ENST00000269205.5	-	1	854	c.666C>T	c.(664-666)gtC>gtT	p.V222V	SLC25A52_ENST00000579441.2_Silent_p.V212V	NM_001034172.2	NP_001029344.3	Q3SY17	MCAR2_HUMAN	solute carrier family 25, member 52	212					transport	integral to membrane|mitochondrial inner membrane					NA						TAAAATCATTGACCAAATGAG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	84	85			NA	NA	18		NA											NA				29339989		2203	4300	6503	SO:0001819	synonymous_variant				CCDS32812.1, CCDS32812.2	18q12.1	2013-07-15	2012-03-29	2012-03-29	ENSG00000141437	ENSG00000141437	147407	147407		Solute carriers	23324	protein-coding gene	gene with protein product			mitochondrial carrier triple repeat 2	MCART2	NA		Standard	XM_084000	NM_001034172	NA	Approved		uc002kxa.3	Q3SY17	OTTHUMG00000179617	ENST00000269205.5:c.666C>T	18.37:g.29339989G>A		NA		37	CCDS32812.2																																																																																			SLC25A52-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447377.2		-	ENST00000269205.5	Silent	SNP	18 : 29339989 - 29339989 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	536	49
CCDC136	64753	broad.mit.edu	37	7	128457910	128457910	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128457910C>T	ENST00000487361.1	+	10	1939	c.1545C>T	c.(1543-1545)tcC>tcT	p.S515S	CCDC136_ENST00000378685.4_Silent_p.S434S|CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000297788.4_Silent_p.S1154S|CCDC136_ENST00000464832.1_Silent_p.S446S			Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1154						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						AGACGTCGTCCTAATGCAGGT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													209	209	209			NA	NA	7		NA											NA				128457910		2116	4233	6349	SO:0001819	synonymous_variant				CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596	64753	64753			22225	protein-coding gene	gene with protein product		611902			NA	15112360	Standard	NM_022742	NM_022742	NA	Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000487361.1:c.1545C>T	7.37:g.128457910C>T		NA	A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	37																																																																																				CCDC136-006	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000350646.1		+	ENST00000487361.1	Silent	SNP	7 : 128457910 - 128457910 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	794	116
TNFRSF10B	8795	broad.mit.edu	37	8	22887129	22887129	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22887129C>T	ENST00000276431.4	-	4	754	c.470G>A	c.(469-471)cGc>cAc	p.R157H	TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.R6H|TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.R157H|TNFRSF10B_ENST00000519910.1_5'UTR	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	157					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		TCACCCTGTGCGGCACTTCCG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(94;1064 1342 1839 21060 42553)							NA				0													41	35	37			NA	NA	8		NA											NA				22887129		2203	4300	6503	SO:0001583	missense			AF012628	CCDS6035.1, CCDS6036.1	8p22-p21	2006-02-22			ENSG00000120889	ENSG00000120889	8795	8795		Tumor necrosis factor receptor superfamily, CD molecules	11905	protein-coding gene	gene with protein product		603612			NA	9285725, 9311998	Standard	NM_147187	NM_003842	NA	Approved	DR5, KILLER, TRICK2A, TRAIL-R2, TRICKB, CD262	uc003xcu.2	O14763	OTTHUMG00000097826	ENST00000276431.4:c.470G>A	8.37:g.22887129C>T	ENSP00000276431:p.Arg157His	NA	O14720|O15508|O15517|O15531|Q6UXM8|Q7Z360|Q9BVE0	37	CCDS6035.1	.	.	.	.	.	.	.	.	.	.	c	9.154	1.017022	0.19355	.	.	ENSG00000120889	ENST00000276431;ENST00000347739;ENST00000542226	T;T;T	0.31510	1.49;1.49;1.49	3.65	-4.47	0.03525	TNFR/CD27/30/40/95 cysteine-rich region (3);	3.140280	0.02103	U	0.054152	T	0.16896	0.0406	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.27823	0.006;0.044;0.19;0.185	B;B;B;B	0.09377	0.001;0.002;0.003;0.004	T	0.16571	-1.0398	10	0.48119	T	0.1	.	5.1719	0.15114	0.1396:0.2021:0.5525:0.1057	.	6;157;157;157	B7Z588;B5BU36;O14763;O14763-2	.;.;TR10B_HUMAN;.	H	157;157;6	ENSP00000276431:R157H;ENSP00000317859:R157H;ENSP00000443386:R6H	ENSP00000276431:R157H	R	-	2	0	TNFRSF10B	22943074	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.993000	0.00656	-0.682000	0.05197	-0.176000	0.13171	CGC	TNFRSF10B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000215099.2		-	ENST00000276431.4	Missense_Mutation	SNP	8 : 22887129 - 22887129 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	81	13
ITGA7	3679	broad.mit.edu	37	12	56092293	56092293	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56092293A>G	ENST00000257879.6	-	7	1281	c.1066T>C	c.(1066-1068)Tat>Cat	p.Y356H	ITGA7_ENST00000394230.2_Missense_Mutation_p.Y360H|ITGA7_ENST00000553804.1_Missense_Mutation_p.Y360H|ITGA7_ENST00000452168.2_Missense_Mutation_p.Y263H|ITGA7_ENST00000555728.1_Missense_Mutation_p.Y400H|ITGA7_ENST00000257880.7_Missense_Mutation_p.Y400H|ITGA7_ENST00000347027.6_Missense_Mutation_p.Y356H|ITGA7_ENST00000394229.2_Missense_Mutation_p.Y356H	NM_002206.2	NP_002197.2	Q13683	ITA7_HUMAN	integrin, alpha 7	400					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AAGTACACATACACAGCACCC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	76	73			NA	NA	12		NA											NA				56092293		2203	4300	6503	SO:0001583	missense				CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424	3679	3679		Integrins	6143	protein-coding gene	gene with protein product		600536			NA	7607681	Standard	NM_002206	NM_002206	NA	Approved		uc001shh.3	Q13683		ENST00000257879.6:c.1066T>C	12.37:g.56092293A>G	ENSP00000257879:p.Tyr356His	NA	B4E3U0|C9JMD3|C9JMZ6|O43197|Q9NY89|Q9UET0|Q9UEV2	37	CCDS8888.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.171337	0.78452	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000003	D	0.85111	0.5622	M	0.87328	2.875	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.999;1.0	D	0.87713	0.2568	10	0.87932	D	0	.	12.8385	0.57788	1.0:0.0:0.0:0.0	.	263;400;360;419	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	H	360;356;356;263;400;360;356;400;400	ENSP00000452120:Y360H;ENSP00000257879:Y356H;ENSP00000343009:Y356H;ENSP00000393844:Y263H;ENSP00000257880:Y400H;ENSP00000377777:Y360H;ENSP00000377776:Y356H;ENSP00000452387:Y400H	ENSP00000257879:Y356H	Y	-	1	0	ITGA7	54378560	1.000000	0.71417	0.999000	0.59377	0.702000	0.40608	9.239000	0.95389	1.988000	0.58038	0.459000	0.35465	TAT	ITGA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410049.1		-	ENST00000257879.6	Missense_Mutation	SNP	12 : 56092293 - 56092293 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	542	92
FAIM2	23017	broad.mit.edu	37	12	50295144	50295144	+	Translation_Start_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50295144G>T	ENST00000550890.1	-	0	1018				FAIM2_ENST00000320634.3_Intron			Q9BWQ8	FAIM2_HUMAN	Fas apoptotic inhibitory molecule 2	NA					anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						ATAGTCACCAGGGAAAGGGAG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	22	22			NA	NA	12		NA											NA				50295144		2203	4300	6503					AB023167	CCDS8791.1	12q13	2010-03-18				ENSG00000135472	23017	23017			17067	protein-coding gene	gene with protein product	transmembrane BAX inhibitor motif containing 2	604306			NA	10231032, 10535980	Standard	NM_012306	NM_012306	NA	Approved	KIAA0950, LFG, NMP35, LIFEGUARD, TMBIM2, LFG2	uc001rvj.2	Q9BWQ8	OTTHUMG00000169808	ENST00000550890.1:	12.37:g.50295144G>T		NA	A8K1W6|Q9UJY9|Q9Y2F7	37																																																																																				FAIM2-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000405985.1		-	ENST00000550890.1	De_novo_Start_InFrame	SNP	12 : 50295144 - 50295144 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	171	21
PABPC3	5042	broad.mit.edu	37	13	25671076	25671076	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25671076C>A	ENST00000281589.3	+	1	777	c.740C>A	c.(739-741)gCt>gAt	p.A247D		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	247	RRM 3.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GCACAGAAAGCTGTAGATGAG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	103	107			NA	NA	13		NA											NA				25671076		2203	4300	6503	SO:0001583	missense			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846	5042	5042		RNA binding motif (RRM) containing	8556	protein-coding gene	gene with protein product	testis PABP	604680	poly(A)-binding protein, cytoplasmic 3	PABPL3	NA	8432538, 10543404	Standard	NM_030979	NM_030979	NA	Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.740C>A	13.37:g.25671076C>A	ENSP00000281589:p.Ala247Asp	NA	Q8NHV0|Q9H086	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.106558	0.37145	.	.	ENSG00000151846	ENST00000281589	T	0.38077	1.16	0.875	0.875	0.19130	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.46758	U	0.000270	T	0.70718	0.3256	H	0.99325	4.515	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.74355	-0.3692	10	0.87932	D	0	.	7.5489	0.27783	0.0:1.0:0.0:0.0	.	247	Q9H361	PABP3_HUMAN	D	247	ENSP00000281589:A247D	ENSP00000281589:A247D	A	+	2	0	PABPC3	24569076	1.000000	0.71417	0.997000	0.53966	0.250000	0.25880	5.305000	0.65750	0.759000	0.33084	0.313000	0.20887	GCT	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044220.2		+	ENST00000281589.3	Missense_Mutation	SNP	13 : 25671076 - 25671076 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	507	99
LAMA1	284217	broad.mit.edu	37	18	7013955	7013955	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7013955G>A	ENST00000389658.3	-	23	3315	c.3222C>T	c.(3220-3222)tgC>tgT	p.C1074C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1074	Laminin EGF-like 12.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AACACTGATCGCAGGCCCGGC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	40	43			NA	NA	18		NA											NA				7013955		2203	4300	6503	SO:0001819	synonymous_variant			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680	284217	284217		Laminins	6481	protein-coding gene	gene with protein product		150320		LAMA	NA	2591971	Standard	NM_005559	NM_005559	NA	Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3222C>T	18.37:g.7013955G>A		NA		37	CCDS32787.1																																																																																			LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257369.1		-	ENST00000389658.3	Silent	SNP	18 : 7013955 - 7013955 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	150	28
MOV10	4343	broad.mit.edu	37	1	113238174	113238174	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113238174G>A	ENST00000369644.1	+	12	2618	c.1589G>A	c.(1588-1590)cGc>cAc	p.R530H	MOV10_ENST00000357443.2_Missense_Mutation_p.R586H|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000413052.2_Missense_Mutation_p.R586H|MOV10_ENST00000369645.1_Missense_Mutation_p.R586H			Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	586					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	p.R586L(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		AGGGACATCCGCATGGTACCT	0.602		NA											G	1	5e-04	NA	NA	2184	0.0017	0.9998	,	,	NA	3e-04	NA	NA	NA	5e-04	0.8271	LOWCOV,EXOME	NA	NA	2e-04	SNP								NA				1	Substitution - Missense(1)	lung(1)											54	48	50			NA	NA	1		NA											NA				113238174		2203	4300	6503	SO:0001583	missense			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363	4343	4343			7200	protein-coding gene	gene with protein product	functional spliceosome-associated protein 113	610742	Mov10 (Moloney leukemia virus 10, mouse) homolog, Mov10, Moloney leukemia virus 10, homolog (mouse)		NA	12226669	Standard	NM_020963	NM_001286072	NA	Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000369644.1:c.1589G>A	1.37:g.113238174G>A	ENSP00000358658:p.Arg530His	NA	Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	37		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.91	2.377101	0.42105	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	5.67	2.45	0.29901	.	0.688797	0.14861	N	0.294066	T	0.59622	0.2207	L	0.39898	1.24	0.09310	N	0.999996	B;B	0.11235	0.001;0.004	B;B	0.10450	0.005;0.005	T	0.55457	-0.8138	10	0.42905	T	0.14	-5.1003	9.3777	0.38292	0.3334:0.0:0.6666:0.0	.	530;586	Q5JR04;Q9HCE1	.;MOV10_HUMAN	H	586;586;530;586;524	ENSP00000399797:R586H;ENSP00000358659:R586H;ENSP00000358658:R530H;ENSP00000350028:R586H	ENSP00000350028:R586H	R	+	2	0	MOV10	113039697	0.002000	0.14202	0.999000	0.59377	0.992000	0.81027	1.012000	0.29924	0.768000	0.33290	0.655000	0.94253	CGC	MOV10-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000032908.1		+	ENST00000369644.1	Missense_Mutation	SNP	1 : 113238174 - 113238174 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	175	20
MDGA2	161357	broad.mit.edu	37	14	47504353	47504353	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:47504353C>T	ENST00000426342.1	-	8	1532	c.786G>A	c.(784-786)atG>atA	p.M262I	MDGA2_ENST00000357362.3_Missense_Mutation_p.M262I|MDGA2_ENST00000399232.2_Missense_Mutation_p.M491I|MDGA2_ENST00000439988.3_Missense_Mutation_p.M560I	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	491	Ig-like 3.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TCTCCATTTGCATTGATCCAT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													275	250	258			NA	NA	14		NA											NA				47504353		1971	4173	6144	SO:0001583	missense			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915	161357	161357		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	19835	protein-coding gene	gene with protein product		611128	MAM domain containing 1	MAMDC1	NA	15019943	Standard	NM_182830	NM_001113498	NA	Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000426342.1:c.786G>A	14.37:g.47504353C>T	ENSP00000405456:p.Met262Ile	NA		37	CCDS41948.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189648	0.57909	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.52	5.52	0.82312	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000006	T	0.41465	0.1160	N	0.04018	-0.295	0.80722	D	1	B;B	0.14438	0.01;0.001	B;B	0.18263	0.012;0.021	T	0.32798	-0.9893	10	0.15066	T	0.55	.	18.0085	0.89216	0.0:1.0:0.0:0.0	.	262;491	F6W3S7;Q7Z553	.;MDGA2_HUMAN	I	491;262;560;262	ENSP00000400011:M491I;ENSP00000405456:M262I;ENSP00000382178:M560I;ENSP00000349925:M262I	ENSP00000349925:M262I	M	-	3	0	MDGA2	46574103	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.818000	0.86416	2.608000	0.88229	0.491000	0.48974	ATG	MDGA2-202	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277084.2		-	ENST00000426342.1	Missense_Mutation	SNP	14 : 47504353 - 47504353 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1063	46
GTPBP3	84705	broad.mit.edu	37	19	17449816	17449816	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17449816G>A	ENST00000324894.8	+	5	713	c.645G>A	c.(643-645)gaG>gaA	p.E215E	GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000361619.5_Silent_p.E237E|GTPBP3_ENST00000358792.7_Silent_p.E215E|GTPBP3_ENST00000600625.1_Silent_p.E215E	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	215					tRNA modification	mitochondrion	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						ACAACCTGGAGGAGGGGGTCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	69	71			NA	NA	19		NA											NA				17449816		2203	4300	6503	SO:0001819	synonymous_variant			AF360742	CCDS32950.1, CCDS32951.1, CCDS56088.1, CCDS59364.1	19p13.2	2008-02-05				ENSG00000130299	84705	84705			14880	protein-coding gene	gene with protein product		608536			NA	1290633	Standard	NM_032620	NM_001128855	NA	Approved	MSS1, THDF1, GTPBG3, MTGP1, FLJ14700	uc010xpo.2	Q969Y2		ENST00000324894.8:c.645G>A	19.37:g.17449816G>A		NA	A6NFH1|A6NKR4|A8K7B4|Q8TCY6|Q8WUW9|Q969G4|Q9BX61	37	CCDS32951.1																																																																																			GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463624.1		+	ENST00000324894.8	Silent	SNP	19 : 17449816 - 17449816 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	491	87
NOVA1	4857	broad.mit.edu	37	14	26941524	26941524	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:26941524A>C	ENST00000344429.5	-	4	523		c.e4+1		NOVA1_ENST00000465357.2_Intron|NOVA1_ENST00000539517.2_Splice_Site|NOVA1_ENST00000267422.7_Splice_Site|NOVA1_ENST00000547619.1_Missense_Mutation_p.V174G	NM_006491.2	NP_006482.1	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	NA					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		ATGATACTGTACCTGATTAGC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													227	184	199			NA	NA	14		NA											NA				26941524		2203	4300	6503	SO:0001630	splice_region_variant			U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910	4857	4857			7886	protein-coding gene	gene with protein product		602157			NA	8558240	Standard	NM_006491	NM_006489	NA	Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000344429.5:c.519+1T>G	14.37:g.26941524A>C		NA	A8K0S4|A8K4Q7|D3DS82|Q6B004	37	CCDS9635.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.02|19.02	3.746807|3.746807	0.69418|0.69418	.|.	.|.	ENSG00000139910|ENSG00000139910	ENST00000539517;ENST00000267422;ENST00000449198;ENST00000549146;ENST00000549571;ENST00000344429|ENST00000547619	.|T	.|0.48522	.|0.81	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|.	.|.	.|.	.|.	.|T	.|0.66396	.|0.2785	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70044	.|-0.4980	.|6	.|0.87932	.|D	.|0	.|.	16.3782|16.3782	0.83418|0.83418	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	.|G	-1|174	.|ENSP00000448157:V174G	.|ENSP00000448157:V174G	.|V	-|-	.|2	.|0	NOVA1|NOVA1	26011364|26011364	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.165000|7.165000	0.77544|0.77544	2.277000|2.277000	0.76020|0.76020	0.528000|0.528000	0.53228|0.53228	.|GTA	NOVA1-001	KNOWN	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276557.1	Intron	-	ENST00000344429.5	Splice_Site	SNP	14 : 26941524 - 26941524 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	153	32
NOD2	64127	broad.mit.edu	37	16	50745492	50745492	+	Missense_Mutation	SNP	G	G	A	rs104895436		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50745492G>A	ENST00000300589.2	+	4	1775	c.1670G>A	c.(1669-1671)gGc>gAc	p.G557D		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	557	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GCTCTGTGGGGCCTGGGCATG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	34	34			NA	NA	16		NA											NA				50745492		2198	4300	6498	SO:0001583	missense			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207	64127	64127		Nucleotide-binding domain and leucine rich repeat containing	5331	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2, NOD-like receptor C2, NLR family, CARD domain containing 2	605956	caspase recruitment domain family, member 15	IBD1, CARD15	NA	7809109, 8587604	Standard	NM_022162	XM_005256084	NA	Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1670G>A	16.37:g.50745492G>A	ENSP00000300589:p.Gly557Asp	NA	Q96RH5|Q96RH6|Q96RH8	37	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593940	0.66219	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.74526	-0.85	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000008	D	0.88804	0.6536	M	0.93106	3.38	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.91025	0.4860	10	0.66056	D	0.02	.	14.1217	0.65192	0.0:0.0:1.0:0.0	.	341;530;557	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	D	530;557	ENSP00000300589:G557D	ENSP00000300589:G557D	G	+	2	0	NOD2	49302993	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	5.344000	0.65981	2.399000	0.81585	0.556000	0.70494	GGC	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256876.2		+	ENST00000300589.2	Missense_Mutation	SNP	16 : 50745492 - 50745492 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	245	50
DOPEY2	9980	broad.mit.edu	37	21	37617678	37617678	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37617678G>A	ENST00000399151.3	+	19	3485	c.3400G>A	c.(3400-3402)Gac>Aac	p.D1134N		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1134					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCCTTCCCACGACCTGCAGGA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	85	98			NA	NA	21		NA											NA				37617678		2203	4300	6503	SO:0001583	missense			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197	9980	9980			1291	protein-coding gene	gene with protein product		604803	chromosome 21 open reading frame 5	C21orf5	NA	16301316, 16303751, 10931277	Standard	NM_005128	NM_005128	NA	Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.3400G>A	21.37:g.37617678G>A	ENSP00000382104:p.Asp1134Asn	NA	D3DSG5|Q6PJQ7|Q9UEZ3	37	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432271	0.43122	.	.	ENSG00000142197	ENST00000399151	T	0.28666	1.6	5.55	2.74	0.32292	.	0.476618	0.26227	N	0.025593	T	0.25938	0.0632	L	0.50333	1.59	0.35569	D	0.805348	B;B	0.20550	0.046;0.027	B;B	0.11329	0.006;0.003	T	0.16867	-1.0388	10	0.59425	D	0.04	.	8.2768	0.31877	0.1344:0.0:0.7372:0.1284	.	1134;1134	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	N	1134	ENSP00000382104:D1134N	ENSP00000382104:D1134N	D	+	1	0	DOPEY2	36539548	0.998000	0.40836	0.432000	0.26747	0.858000	0.48976	2.887000	0.48586	0.385000	0.24970	0.650000	0.86243	GAC	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000194636.1		+	ENST00000399151.3	Missense_Mutation	SNP	21 : 37617678 - 37617678 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	421	92
TJP2	9414	broad.mit.edu	37	9	71861684	71861684	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71861684C>T	ENST00000377245.4	+	18	2853	c.2645C>T	c.(2644-2646)gCg>gTg	p.A882V	TJP2_ENST00000265384.7_Missense_Mutation_p.A882V|TJP2_ENST00000498204.1_3'UTR|TJP2_ENST00000348208.4_Missense_Mutation_p.A882V|TJP2_ENST00000453658.2_Missense_Mutation_p.A859V|TJP2_ENST00000535702.1_Missense_Mutation_p.A886V|TJP2_ENST00000539225.1_Missense_Mutation_p.A913V	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	882					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CAAGGAGAAGCGGTTTGGGTC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	104	106			NA	NA	9		NA											NA				71861684		2203	4300	6503	SO:0001583	missense			L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139	9414	9414			11828	protein-coding gene	gene with protein product	Friedreich ataxia region gene X104 (tight junction protein ZO-2), zona occludens 2	607709	deafness, autosomal dominant 51	DFNA51	NA	7951235, 20602916	Standard	NM_201629	NM_001170630	NA	Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.2645C>T	9.37:g.71861684C>T	ENSP00000366453:p.Ala882Val	NA	A2A3H9|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	37	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168643	0.78339	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35;2.35	5.15	5.15	0.70609	.	0.060656	0.64402	D	0.000003	T	0.40222	0.1108	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.994;0.999;0.986;0.999;1.0	D;P;P;P;P;D	0.91635	0.997;0.861;0.891;0.469;0.891;0.999	T	0.02026	-1.1227	10	0.39692	T	0.17	.	19.1782	0.93612	0.0:1.0:0.0:0.0	.	913;886;859;882;882;882	F5H301;F5H886;B7Z2R3;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;.;ZO2_HUMAN;.	V	859;882;882;882;886;913	ENSP00000392178:A859V;ENSP00000366453:A882V;ENSP00000345893:A882V;ENSP00000265384:A882V;ENSP00000442090:A886V;ENSP00000438262:A913V	ENSP00000265384:A882V	A	+	2	0	TJP2	71051504	1.000000	0.71417	0.983000	0.44433	0.947000	0.59692	4.626000	0.61269	2.838000	0.97847	0.655000	0.94253	GCG	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052572.2		+	ENST00000377245.4	Missense_Mutation	SNP	9 : 71861684 - 71861684 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	507	91
DAB2IP	153090	broad.mit.edu	37	9	124522508	124522508	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124522508C>T	ENST00000408936.3	+	6	1142	c.960C>T	c.(958-960)ggC>ggT	p.G320G	DAB2IP_ENST00000259371.2_Silent_p.G292G|DAB2IP_ENST00000309989.1_Silent_p.G196G			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	320					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						ACCCCAAGGGCGGCAAGGGCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	60	65			NA	NA	9		NA											NA				124522508		2203	4300	6503	SO:0001819	synonymous_variant			AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848	153090	153090			17294	protein-coding gene	gene with protein product	nGAP-like protein, DOC-2/DAB2 interactive protein, ASK-interacting protein, ASK1-interacting protein 1	609205			NA	11944990, 11812785	Standard	NM_032552	XM_005251721	NA	Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.960C>T	9.37:g.124522508C>T		NA	A6H8V2|A6NHI9|B0QZB1|Q8TDL2|Q96SE1|Q9C0C0	37																																																																																				DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000317857.1		+	ENST00000408936.3	Silent	SNP	9 : 124522508 - 124522508 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	271	38
SREK1	140890	broad.mit.edu	37	5	65474603	65474603	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:65474603G>A	ENST00000334121.6	+	12	1941	c.1782G>A	c.(1780-1782)aaG>aaA	p.K594K	SREK1_ENST00000284041.3_3'UTR|SREK1_ENST00000380918.3_Silent_p.K478K	NM_001077199.2|NM_001270492.1	NP_001070667.1|NP_001257421.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	478					mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						TAGATGACAAGGATGCACCAA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(10;31 347 27684 38976 41583)							NA				0													145	127	133			NA	NA	5		NA											NA				65474603		2203	4300	6503	SO:0001819	synonymous_variant			AF459094	CCDS3991.1, CCDS43323.1, CCDS75253.1	5q11.2-q12.1	2013-02-12	2010-09-08	2010-09-08	ENSG00000153914	ENSG00000153914	140890	140890		RNA binding motif (RRM) containing	17882	protein-coding gene	gene with protein product	serine-arginine-rich splicing regulatory protein 508	609268	splicing factor, arginine/serine-rich 12	SFRS12	NA	12043562	Standard	NM_001077199	NM_001077199	NA	Approved	DKFZp564B176, SRrp86, SRrp508	uc003jun.4	Q8WXA9	OTTHUMG00000097809	ENST00000334121.6:c.1782G>A	5.37:g.65474603G>A		NA	A4FTW3|Q2M1J0|Q86X37	37	CCDS43323.1																																																																																			SREK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000215071.1		+	ENST00000334121.6	Silent	SNP	5 : 65474603 - 65474603 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	71
SERPING1	710	broad.mit.edu	37	11	57373534	57373534	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57373534G>T	ENST00000378323.4	+	5	809	c.752G>T	c.(751-753)aGc>aTc	p.S251I	SERPING1_ENST00000378324.2_Missense_Mutation_p.S194I|SERPING1_ENST00000403558.1_Missense_Mutation_p.S280I|SERPING1_ENST00000278407.4_Missense_Mutation_p.S246I|SERPING1_ENST00000340687.6_Missense_Mutation_p.S246I			P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	246					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CTGTACAGCAGCAGCCCCAGA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													187	172	177			NA	NA	11		NA											NA				57373534		2201	4296	6497	SO:0001583	missense			X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131	710	710		Serine (or cysteine) peptidase inhibitors	1228	protein-coding gene	gene with protein product	plasma protease C1 inhibitor, angioedema, hereditary	606860	serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)	C1NH	NA	2026152, 24172014	Standard	NM_000062	NM_000062	NA	Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000378323.4:c.752G>T	11.37:g.57373534G>T	ENSP00000367574:p.Ser251Ile	NA	A6NMU0|A8KAI9|B2R6L5|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	37		.	.	.	.	.	.	.	.	.	.	G	15.34	2.806050	0.50421	.	.	ENSG00000149131	ENST00000278407;ENST00000340687;ENST00000378323;ENST00000378324;ENST00000403558	D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96	5.23	2.22	0.28083	Serpin domain (3);	0.426738	0.28036	N	0.016851	D	0.90549	0.7038	M	0.86864	2.845	0.37094	D	0.899581	D;D;D;D	0.76494	0.99;0.999;0.99;0.99	P;D;P;P	0.68192	0.904;0.956;0.904;0.904	D	0.89377	0.3679	10	0.87932	D	0	.	4.7356	0.12986	0.1933:0.1795:0.6271:0.0	.	251;280;246;246	B4E1F0;E9PGN7;E9KL26;P05155	.;.;.;IC1_HUMAN	I	246;246;251;194;280	ENSP00000278407:S246I;ENSP00000341861:S246I;ENSP00000367574:S251I;ENSP00000367575:S194I;ENSP00000384420:S280I	ENSP00000278407:S246I	S	+	2	0	SERPING1	57130110	0.240000	0.23847	1.000000	0.80357	0.333000	0.28666	0.306000	0.19279	0.552000	0.29026	0.561000	0.74099	AGC	SERPING1-005	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000317469.2		+	ENST00000378323.4	Missense_Mutation	SNP	11 : 57373534 - 57373534 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	788	136
VPS13A	23230	broad.mit.edu	37	9	79867222	79867222	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79867222T>G	ENST00000360280.3	+	22	2502	c.2242T>G	c.(2242-2244)Ttg>Gtg	p.L748V	VPS13A_ENST00000376636.3_Missense_Mutation_p.L748V|VPS13A_ENST00000376634.4_Missense_Mutation_p.L748V|VPS13A_ENST00000357409.5_Missense_Mutation_p.L748V	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	748					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCACTTCAATTTGGAACTGTC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													230	222	225			NA	NA	9		NA											NA				79867222		2203	4300	6503	SO:0001583	missense			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969	23230	23230			1908	protein-coding gene	gene with protein product	chorein	605978	chorea acanthocytosis, vacuolar protein sorting 13A (yeast)	CHAC	NA	9382101, 11381253	Standard	NM_015186	NM_001018038	NA	Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.2242T>G	9.37:g.79867222T>G	ENSP00000353422:p.Leu748Val	NA	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	T	1.599	-0.527033	0.04141	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.37411	1.2;1.2;1.2;1.2	5.46	2.52	0.30459	.	0.372540	0.24647	N	0.036745	T	0.09686	0.0238	N	0.00760	-1.21	0.80722	D	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.06405	0.002;0.001;0.001;0.001	T	0.06607	-1.0817	10	0.28530	T	0.3	.	3.2004	0.06647	0.2078:0.1156:0.5499:0.1267	.	748;748;748;748	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	V	748	ENSP00000365821:L748V;ENSP00000365823:L748V;ENSP00000353422:L748V;ENSP00000349985:L748V	ENSP00000349985:L748V	L	+	1	2	VPS13A	79057042	1.000000	0.71417	0.993000	0.49108	0.943000	0.58893	1.953000	0.40352	0.625000	0.30304	-0.396000	0.06452	TTG	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052753.2		+	ENST00000360280.3	Missense_Mutation	SNP	9 : 79867222 - 79867222 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	824	156
DDX11	1663	broad.mit.edu	37	12	31255888	31255888	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:31255888C>T	ENST00000407793.2	+	24	2642	c.2391C>T	c.(2389-2391)ggC>ggT	p.G797G	DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Silent_p.G771G|DDX11_ENST00000545668.1_Silent_p.G797G|DDX11_ENST00000350437.4_Silent_p.G747G|DDX11_ENST00000542838.1_Silent_p.G797G	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	797					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGATGGTGGGCATGCCCTTCC	0.607		NA								Multiple Myeloma(12;0.14)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	61	62			NA	NA	12		NA											NA				31255888		2203	4300	6503	SO:0001819	synonymous_variant			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573	1663	1663		DEAD-boxes	2736	protein-coding gene	gene with protein product	CHL1-like helicase homolog (S. cerevisiae)	601150	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase), DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11		NA		Standard	NM_030653	NM_030653	NA	Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.2391C>T	12.37:g.31255888C>T		NA	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	37	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	C	8.941	0.965738	0.18583	.	.	ENSG00000013573	ENST00000539702	.	.	.	3.29	2.36	0.29203	.	.	.	.	.	T	0.53578	0.1805	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44081	-0.9351	4	.	.	.	.	5.4916	0.16779	0.2209:0.541:0.2381:0.0	.	.	.	.	V	63	.	.	A	+	2	0	DDX11	31147155	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.767000	0.26575	0.538000	0.28769	0.505000	0.49811	GCA	DDX11-202	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399728.1		+	ENST00000407793.2	Silent	SNP	12 : 31255888 - 31255888 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	336	46
ANAPC4	29945	broad.mit.edu	37	4	25390499	25390499	+	Silent	SNP	C	C	T	rs140263991		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25390499C>T	ENST00000315368.3	+	7	652	c.510C>T	c.(508-510)gaC>gaT	p.D170D	ANAPC4_ENST00000510092.1_Silent_p.D170D	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	170					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TCTTGGGAGACGTCAGGTAAA	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4356		0,0,2178	43	48	46		510	-0.5	1	4	dbSNP_134	46	1,8565		0,1,4282	no	coding-synonymous	ANAPC4	NM_013367.2		0,1,6460	TT,TC,CC	NA	0.0117,0.0,0.0077		170/809	25390499	1,12921	2178	4283	6461	SO:0001819	synonymous_variant			AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900	29945	29945		Anaphase promoting complex subunits	19990	protein-coding gene	gene with protein product		606947			NA	6180011	Standard	NM_013367	NM_013367	NA	Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.510C>T	4.37:g.25390499C>T		NA	A8K8H1|Q6PCC6|Q9NSH6	37	CCDS3434.1																																																																																			ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214986.1		+	ENST00000315368.3	Silent	SNP	4 : 25390499 - 25390499 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	235	30
SMG1	23049	broad.mit.edu	37	16	18856783	18856783	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:18856783T>C	ENST00000446231.2	-	39	6599	c.6187A>G	c.(6187-6189)Aag>Gag	p.K2063E	SMG1_ENST00000389467.3_Missense_Mutation_p.K2063E			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2063					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTCCCAGGCTTTGCAGGGTTC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	68	70			NA	NA	16		NA											NA				18856783		1864	4100	5964	SO:0001583	missense			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106	23049	23049			30045	protein-coding gene	gene with protein product	phosphatidylinositol 3-kinase-related kinase	607032	smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)		NA	9455477, 11331269, 17229728	Standard	NM_015092	NM_015092	NA	Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.6187A>G	16.37:g.18856783T>C	ENSP00000402515:p.Lys2063Glu	NA	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	37	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.152266	0.78001	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01076	5.37;5.37	5.79	5.79	0.91817	Protein kinase-like domain (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.01627	0.0052	L	0.38175	1.15	0.42668	D	0.993502	B;B	0.25809	0.135;0.039	B;B	0.25405	0.06;0.027	T	0.66056	-0.6018	10	0.31617	T	0.26	.	16.1343	0.81471	0.0:0.0:0.0:1.0	.	1923;2063	Q96Q15-2;Q96Q15	.;SMG1_HUMAN	E	2063	ENSP00000402515:K2063E;ENSP00000374118:K2063E	ENSP00000374118:K2063E	K	-	1	0	SMG1	18764284	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.008000	0.88588	2.209000	0.71365	0.533000	0.62120	AAG	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391817.1		-	ENST00000446231.2	Missense_Mutation	SNP	16 : 18856783 - 18856783 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	57
ZNF773	374928	broad.mit.edu	37	19	58018058	58018058	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58018058G>A	ENST00000282292.4	+	4	735	c.595G>A	c.(595-597)Gcc>Acc	p.A199T	ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.A198T|ZNF773_ENST00000599847.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		ATGTGGGAAAGCCTTTGGTCA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	56	56			NA	NA	19		NA											NA				58018058		2203	4299	6502	SO:0001583	missense			BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439	374928	374928		Zinc fingers, C2H2-type, -	30487	protein-coding gene	gene with protein product			zinc finger protein 419B	ZNF419B	NA	12477932	Standard	NM_198542	NM_198542	NA	Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.595G>A	19.37:g.58018058G>A	ENSP00000282292:p.Ala199Thr	NA	Q96DL8	37	CCDS33134.1	.	.	.	.	.	.	.	.	.	.	G	1.618	-0.522152	0.04171	.	.	ENSG00000152439	ENST00000282292	T	0.00848	5.62	1.25	1.25	0.21368	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00666	0.0022	N	0.20845	0.615	0.09310	N	1	B;P	0.34562	0.095;0.457	B;B	0.31390	0.026;0.129	T	0.48801	-0.9003	9	0.26408	T	0.33	.	3.5081	0.07698	0.0:0.2776:0.442:0.2804	.	198;199	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	T	199	ENSP00000282292:A199T	ENSP00000282292:A199T	A	+	1	0	ZNF773	62709870	0.000000	0.05858	0.027000	0.17364	0.680000	0.39746	-2.333000	0.01108	0.992000	0.38840	0.313000	0.20887	GCC	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466475.1		+	ENST00000282292.4	Missense_Mutation	SNP	19 : 58018058 - 58018058 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	62
ITGB4	3691	broad.mit.edu	37	17	73745092	73745092	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73745092G>T	ENST00000200181.3	+	27	3469	c.3282G>T	c.(3280-3282)caG>caT	p.Q1094H	ITGB4_ENST00000579662.1_Missense_Mutation_p.Q1094H|ITGB4_ENST00000339591.3_Missense_Mutation_p.Q1094H|ITGB4_ENST00000450894.3_Missense_Mutation_p.Q1094H|ITGB4_ENST00000449880.2_Missense_Mutation_p.Q1094H	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1094					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACCTGGGCCAGCCCCACTCCA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	30	29			NA	NA	17		NA											NA				73745092		2202	4300	6502	SO:0001583	missense				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470	3691	3691		CD molecules, Integrins, Fibronectin type III domain containing	6158	protein-coding gene	gene with protein product		147557			NA	2070796	Standard		XM_005257309	NA	Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.3282G>T	17.37:g.73745092G>T	ENSP00000200181:p.Gln1094His	NA	O14690|O14691|O15339|O15340|O15341|Q9UIQ4	37	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899867	0.33535	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.27402	1.67;1.67;1.67	5.45	-1.39	0.08997	.	0.230210	0.37348	N	0.002134	T	0.21227	0.0511	N	0.24115	0.695	0.30210	N	0.797787	P;P;P	0.51057	0.941;0.744;0.835	P;B;P	0.50860	0.652;0.252;0.45	T	0.17077	-1.0381	10	0.72032	D	0.01	.	2.7314	0.05228	0.5264:0.1284:0.2149:0.1304	.	1094;1094;1094	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	H	1094	ENSP00000200181:Q1094H;ENSP00000344079:Q1094H;ENSP00000400217:Q1094H	ENSP00000200181:Q1094H	Q	+	3	2	ITGB4	71256687	0.422000	0.25473	0.998000	0.56505	0.939000	0.58152	-0.305000	0.08188	0.041000	0.15688	0.650000	0.86243	CAG	ITGB4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448334.1		+	ENST00000200181.3	Missense_Mutation	SNP	17 : 73745092 - 73745092 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	191	27
MYO1F	4542	broad.mit.edu	37	19	8612995	8612995	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8612995G>A	ENST00000338257.8	-	12	1461	c.1194C>T	c.(1192-1194)ttC>ttT	p.F398F		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	398	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.F398F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AAAACTGCTCGAAGCCATTTT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											147	143	144			NA	NA	19		NA											NA				8612995		1933	4142	6075	SO:0001819	synonymous_variant			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347	4542	4542		Myosins / Myosin superfamily : Class I	7600	protein-coding gene	gene with protein product		601480			NA	9119401, 8884266	Standard		NM_012335	NA	Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1194C>T	19.37:g.8612995G>A		NA	Q8WWN7	37	CCDS42494.1																																																																																			MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342716.2		-	ENST00000338257.8	Silent	SNP	19 : 8612995 - 8612995 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1260	230
PCDH8	5100	broad.mit.edu	37	13	53422137	53422137	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53422137G>A	ENST00000377942.3	-	1	638	c.435C>T	c.(433-435)tcC>tcT	p.S145S	PCDH8_ENST00000338862.4_Silent_p.S145S	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	145	Cadherin 2.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	p.S145S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCGCACCCTCGGACACCTCTA	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(36;25 841 9273 49207)							NA				1	Substitution - coding silent(1)	lung(1)											28	28	28			NA	NA	13		NA											NA				53422137		2193	4292	6485	SO:0001819	synonymous_variant			AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099	5100	5100		Cadherins / Protocadherins : Non-clustered	8660	protein-coding gene	gene with protein product		603580			NA	9787079, 9315676	Standard	NM_002590	NM_002590	NA	Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.435C>T	13.37:g.53422137G>A		NA	B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	37	CCDS9438.1																																																																																			PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045108.2		-	ENST00000377942.3	Silent	SNP	13 : 53422137 - 53422137 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	264	50
DUPD1	338599	broad.mit.edu	37	10	76803669	76803669	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76803669C>T	ENST00000338487.5	-	2	306	c.307G>A	c.(307-309)Gac>Aac	p.D103N		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	103	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					ATGTCCATGTCGCGGTAGTAG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	85	88			NA	NA	10		NA											NA				76803669		2203	4300	6503	SO:0001583	missense				CCDS31223.1	10q22.3	2011-06-09			ENSG00000188716	ENSG00000188716	338599	338599		Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases	23481	protein-coding gene	gene with protein product					NA		Standard	XM_291741	NM_001003892	NA	Approved	DUSP27	uc001jwq.1	Q68J44	OTTHUMG00000018512	ENST00000338487.5:c.307G>A	10.37:g.76803669C>T	ENSP00000340609:p.Asp103Asn	NA	B2RP93	37	CCDS31223.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377292	0.42105	.	.	ENSG00000188716	ENST00000338487	T	0.61158	0.13	4.93	4.02	0.46733	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.052989	0.64402	D	0.000001	T	0.51176	0.1659	L	0.59967	1.855	0.51482	D	0.999928	B	0.23591	0.088	B	0.19666	0.026	T	0.45644	-0.9247	10	0.29301	T	0.29	-37.7159	11.4852	0.50350	0.0:0.8483:0.0:0.1517	.	103	Q68J44	DUPD1_HUMAN	N	103	ENSP00000340609:D103N	ENSP00000340609:D103N	D	-	1	0	DUPD1	76473675	0.998000	0.40836	0.994000	0.49952	0.446000	0.32137	3.767000	0.55288	1.055000	0.40461	0.650000	0.86243	GAC	DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048777.2		-	ENST00000338487.5	Missense_Mutation	SNP	10 : 76803669 - 76803669 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	472	16
DOCK10	55619	broad.mit.edu	37	2	225651780	225651780	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:225651780G>A	ENST00000409592.3	-	50	5709	c.5596C>T	c.(5596-5598)Cgg>Tgg	p.R1866W	DOCK10_ENST00000258390.7_Missense_Mutation_p.R1872W			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1872	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CCAAACAGCCGCTTCTCCGAA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	127	128			NA	NA	2		NA											NA				225651780		1890	4117	6007	SO:0001583	missense			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905	55619	55619		Pleckstrin homology (PH) domain containing	23479	protein-coding gene	gene with protein product	zizimin3	611518			NA	12432077	Standard		NM_014689	NA	Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000409592.3:c.5596C>T	2.37:g.225651780G>A	ENSP00000386694:p.Arg1866Trp	NA	O75178|Q9NW06|Q9NXI8	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.045660|4.045660	0.75846|0.75846	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000535663|ENST00000409592;ENST00000258390;ENST00000373702	.|T;T	.|0.33865	.|1.39;1.39	5.99|5.99	4.15|4.15	0.48705|0.48705	.|.	.|0.111909	.|0.56097	.|D	.|0.000022	T|T	0.68815|0.68815	0.3042|0.3042	M|M	0.93328|0.93328	3.405|3.405	0.47737|0.47737	D|D	0.999502|0.999502	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.998;0.999;0.999	T|T	0.77456|0.77456	-0.2581|-0.2581	5|10	.|0.87932	.|D	.|0	.|.	14.1883|14.1883	0.65620|0.65620	0.0:0.0:0.6072:0.3928|0.0:0.0:0.6072:0.3928	.|.	.|1872;693;1866;534	.|Q96BY6;B4DF07;B3FL70;B4DEY4	.|DOC10_HUMAN;.;.;.	V|W	19|1866;1872;377	.|ENSP00000386694:R1866W;ENSP00000258390:R1872W	.|ENSP00000258390:R1872W	A|R	-|-	2|1	0|2	DOCK10|DOCK10	225360024|225360024	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.115000|3.115000	0.50391|0.50391	0.822000|0.822000	0.34565|0.34565	0.655000|0.655000	0.94253|0.94253	GCG|CGG	DOCK10-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000331158.2		-	ENST00000409592.3	Missense_Mutation	SNP	2 : 225651780 - 225651780 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	696	187
CTC1	80169	broad.mit.edu	37	17	8135057	8135057	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8135057G>T	ENST00000315684.8	-	14	2469	c.2462C>A	c.(2461-2463)gCt>gAt	p.A821D		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	821					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GGGGCCAGGAGCTATGAGTCG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	67	66			NA	NA	17		NA											NA				8135057		1942	4144	6086	SO:0001583	missense			AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971	80169	80169			26169	protein-coding gene	gene with protein product	conserved telomere maintenance component 1, alpha accessory factor 132, conserved telomere capping protein 1	613129	tmp494178, chromosome 17 open reading frame 68	C17orf68	NA	19854130, 19854131	Standard	NM_025099	NM_025099	NA	Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.2462C>A	17.37:g.8135057G>T	ENSP00000313759:p.Ala821Asp	NA	B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	37	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	G	7.177	0.588796	0.13812	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.86562	-2.14;-2.14	5.8	2.37	0.29283	.	0.338447	0.29737	N	0.011339	D	0.84302	0.5442	M	0.64997	1.995	0.09310	N	1	P	0.48016	0.904	P	0.47573	0.55	T	0.76903	-0.2787	10	0.66056	D	0.02	-8.7372	3.0329	0.06112	0.098:0.1799:0.5351:0.187	.	821	Q2NKJ3	CTC1_HUMAN	D	821;786	ENSP00000313759:A821D;ENSP00000396018:A786D	ENSP00000313759:A821D	A	-	2	0	CTC1	8075782	0.201000	0.23410	0.885000	0.34714	0.461000	0.32589	0.687000	0.25407	1.451000	0.47736	0.655000	0.94253	GCT	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442012.1		-	ENST00000315684.8	Missense_Mutation	SNP	17 : 8135057 - 8135057 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	470	66
ITGB6	3694	broad.mit.edu	37	2	161029111	161029111	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:161029111C>A	ENST00000428609.2	-	5	998	c.764G>T	c.(763-765)aGc>aTc	p.S255I	ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409967.2_Missense_Mutation_p.S297I|ITGB6_ENST00000409872.1_Missense_Mutation_p.S297I|ITGB6_ENST00000283249.2_Missense_Mutation_p.S297I			P18564	ITB6_HUMAN	integrin, beta 6	297	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TTCATTCTTGCTGTCCAAGTG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	139	144			NA	NA	2		NA											NA				161029111		2203	4300	6503	SO:0001583	missense				CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221	3694	3694		Integrins	6161	protein-coding gene	gene with protein product		147558			NA	1729173, 8120056	Standard	NM_000888	NM_001282353	NA	Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000428609.2:c.764G>T	2.37:g.161029111C>A	ENSP00000408024:p.Ser255Ile	NA	B2R9W5|Q0VA95|Q16500|Q53RG5|Q53RR6	37		.	.	.	.	.	.	.	.	.	.	C	14.54	2.566658	0.45694	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.97831	-4.56;-4.56;-4.56;-4.56	5.49	2.16	0.27623	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.596265	0.20136	N	0.098493	D	0.95714	0.8606	L	0.58101	1.795	0.24406	N	0.994683	P;P	0.42337	0.776;0.776	B;B	0.41813	0.367;0.257	D	0.90379	0.4386	10	0.52906	T	0.07	.	8.6805	0.34205	0.0:0.5591:0.0:0.4409	.	255;297	E9PEE8;P18564	.;ITB6_HUMAN	I	297;255;297;297	ENSP00000283249:S297I;ENSP00000408024:S255I;ENSP00000386828:S297I;ENSP00000386367:S297I	ENSP00000283249:S297I	S	-	2	0	ITGB6	160737357	0.967000	0.33354	1.000000	0.80357	0.999000	0.98932	0.172000	0.16704	0.181000	0.19994	0.655000	0.94253	AGC	ITGB6-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000334016.1		-	ENST00000428609.2	Missense_Mutation	SNP	2 : 161029111 - 161029111 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	658	18
CYTH2	9266	broad.mit.edu	37	19	48977504	48977504	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48977504C>T	ENST00000452733.2	+	7	1089	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W	CYTH2_ENST00000427476.1_Missense_Mutation_p.R205W			Q99418	CYH2_HUMAN	cytohesin 2	205					actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TCCCAATGTCCGGGACAAGCC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	86	91			NA	NA	19		NA											NA				48977504		2203	4300	6503	SO:0001583	missense			X99753	CCDS12722.1	19q13.32	2014-05-02	2008-08-14	2008-08-14	ENSG00000105443	ENSG00000105443	9266	9266		Pleckstrin homology (PH) domain containing	9502	protein-coding gene	gene with protein product		602488	pleckstrin homology, Sec7 and coiled/coil domains 2 (cytohesin-2), pleckstrin homology, Sec7 and coiled-coil domains 2	PSCD2L, PSCD2	NA	8706128, 8945478, 20525696	Standard	NM_004228	NM_004228	NA	Approved	CTS18.1, Sec7p-L, ARNO, Sec7p-like, cytohesin-2	uc002pjj.4	Q99418	OTTHUMG00000150245	ENST00000452733.2:c.613C>T	19.37:g.48977504C>T	ENSP00000408236:p.Arg205Trp	NA	A8K8P0|Q8IXY9|Q92958	37	CCDS12722.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.462289	0.63513	.	.	ENSG00000105443	ENST00000452733;ENST00000427476;ENST00000325139	T;T;T	0.55930	0.49;0.49;0.49	4.16	0.172	0.15031	.	0.000000	0.85682	D	0.000000	T	0.65228	0.2671	M	0.70903	2.155	0.54753	D	0.999981	D	0.65815	0.995	D	0.63793	0.918	T	0.68693	-0.5341	10	0.87932	D	0	.	11.7766	0.51989	0.3952:0.6048:0.0:0.0	.	205	Q99418-2	.	W	205;205;227	ENSP00000408236:R205W;ENSP00000391648:R205W;ENSP00000314566:R227W	ENSP00000314566:R227W	R	+	1	2	CYTH2	53669316	0.954000	0.32549	0.971000	0.41717	0.651000	0.38670	1.644000	0.37228	0.320000	0.23234	0.561000	0.74099	CGG	CYTH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317060.1		+	ENST00000452733.2	Missense_Mutation	SNP	19 : 48977504 - 48977504 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	704	113
PARM1	25849	broad.mit.edu	37	4	75959104	75959104	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:75959104G>A	ENST00000307428.7	+	3	993	c.781G>A	c.(781-783)Gcc>Acc	p.A261T	PARM1_ENST00000513238.1_Missense_Mutation_p.A19T|RP11-44F21.2_ENST00000513770.1_RNA	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	261					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CAGCATCGCCGCCATTACCGT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	45	43			NA	NA	4		NA											NA				75959104		2035	4186	6221	SO:0001583	missense			AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116	25849	25849			24536	protein-coding gene	gene with protein product	Prostatic androgen-repressed message 1, Castration-induced prostatic apoptosis-related protein 1, WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)				NA	10499539, 12772192, 18027867	Standard	NM_015393	NM_015393	NA	Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.781G>A	4.37:g.75959104G>A	ENSP00000370224:p.Ala261Thr	NA	B3KMQ9|Q96DV8|Q9Y4S1	37	CCDS47077.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.755231	0.89843	.	.	ENSG00000169116	ENST00000513238;ENST00000307428	T;T	0.24908	1.83;1.83	5.76	5.76	0.90799	.	0.000000	0.56097	D	0.000034	T	0.40398	0.1115	L	0.29908	0.895	0.44500	D	0.997441	D	0.89917	1.0	D	0.97110	1.0	T	0.19321	-1.0309	10	0.87932	D	0	-32.4485	15.4761	0.75481	0.0:0.0:1.0:0.0	.	261	Q6UWI2	PARM1_HUMAN	T	19;261	ENSP00000424276:A19T;ENSP00000370224:A261T	ENSP00000370224:A261T	A	+	1	0	PARM1	76178128	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	5.204000	0.65180	2.713000	0.92767	0.655000	0.94253	GCC	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362494.1		+	ENST00000307428.7	Missense_Mutation	SNP	4 : 75959104 - 75959104 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	67	8
TMEM132E	124842	broad.mit.edu	37	17	32956037	32956037	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32956037C>T	ENST00000321639.5	+	5	1210	c.882C>T	c.(880-882)ggC>ggT	p.G294G		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	294						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCAGGGAGGGCCAGGGCCCCT	0.612		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	17		NA											NA				32956037		2203	4300	6503	SO:0001819	synonymous_variant			BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291	124842	124842			26991	protein-coding gene	gene with protein product					NA		Standard	NM_207313	NM_207313	NA	Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.882C>T	17.37:g.32956037C>T		NA	Q8WUF4|Q8WVA5	37	CCDS11283.1																																																																																			TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256440.2		+	ENST00000321639.5	Silent	SNP	17 : 32956037 - 32956037 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	716	41
ANK3	288	broad.mit.edu	37	10	61846505	61846505	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61846505T>C	ENST00000280772.2	-	30	3869	c.3678A>G	c.(3676-3678)tcA>tcG	p.S1226S	ANK3_ENST00000355288.2_Silent_p.S360S|ANK3_ENST00000503366.1_Silent_p.S1227S|ANK3_ENST00000373827.2_Silent_p.S1220S	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	NA					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CACCTTCTCCTGAGGGCGGGG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	133	137			NA	NA	10		NA											NA				61846505		2203	4300	6503	SO:0001819	synonymous_variant			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150	288	288		Ankyrin repeat domain containing	494	protein-coding gene	gene with protein product	ankyrin-3, node of Ranvier, ankyrin-G	600465			NA	7665168	Standard	NM_020987	NM_020987	NA	Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3678A>G	10.37:g.61846505T>C		NA	Q5VXD5	37	CCDS7258.1																																																																																			ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048201.4		-	ENST00000280772.2	Silent	SNP	10 : 61846505 - 61846505 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	458	78
ZSCAN25	221785	broad.mit.edu	37	7	99226926	99226926	+	Silent	SNP	C	C	T	rs149961438	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99226926C>T	ENST00000394152.2	+	8	1245	c.918C>T	c.(916-918)ctC>ctT	p.L306L	ZSCAN25_ENST00000466948.1_Intron|ZSCAN25_ENST00000334715.3_Silent_p.L306L|ZSCAN25_ENST00000262941.6_Silent_p.L234L	NM_145115.2	NP_660090.2			zinc finger and SCAN domain containing 25	NA											NA						GCCCTGGGCTCGGAAGGGTCT	0.632		NA											C	5	0.0023	NA	NA	2184	0.01	0.9999	,	,	NA	3e-04	NA	NA	NA	0.0023	0.9813	LOWCOV,EXOME	NA	NA	7e-04	SNP								NA				0								C		0,4406		0,0,2203	54	57	56		918	-8.8	0	7	dbSNP_134	56	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ZNF498	NM_145115.2		0,2,6501	TT,TC,CC	NA	0.0233,0.0,0.0154		306/545	99226926	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037	221785	221785		-, Zinc fingers, C2H2-type	21961	protein-coding gene	gene with protein product			zinc finger protein 498	ZNF498	NA	11179890	Standard	NM_145115	XM_005250194	NA	Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.918C>T	7.37:g.99226926C>T		NA		37	CCDS5671.2																																																																																			ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157203.4		+	ENST00000394152.2	Silent	SNP	7 : 99226926 - 99226926 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	483	89
CPT1C	126129	broad.mit.edu	37	19	50203964	50203964	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50203964G>A	ENST00000392518.4	+	5	677	c.305G>A	c.(304-306)cGg>cAg	p.R102Q	CPT1C_ENST00000354199.5_Missense_Mutation_p.R102Q|CPT1C_ENST00000598293.1_Missense_Mutation_p.R102Q|CPT1C_ENST00000405931.2_Missense_Mutation_p.R102Q|CPT1C_ENST00000323446.5_Missense_Mutation_p.R102Q	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	102					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CACGGGCTCCGGGGGGTCCTG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	82	82			NA	NA	19		NA											NA				50203964		2203	4300	6503	SO:0001583	missense			AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169	126129	126129			18540	protein-coding gene	gene with protein product		608846			NA	12376098, 11001805	Standard	NM_152359	NM_001136052	NA	Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.305G>A	19.37:g.50203964G>A	ENSP00000376303:p.Arg102Gln	NA	Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	37	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	G	1.148	-0.647378	0.03506	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	4.47	-0.363	0.12556	.	0.620826	0.13466	N	0.385764	T	0.37705	0.1013	N	0.02142	-0.665	0.22185	N	0.999302	B;B;B	0.14012	0.009;0.001;0.001	B;B;B	0.10450	0.005;0.002;0.001	T	0.31558	-0.9939	10	0.08381	T	0.77	-23.8765	3.325	0.07063	0.377:0.2079:0.415:0.0	.	102;102;102	Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;CPT1C_HUMAN	Q	102	ENSP00000376303:R102Q;ENSP00000346138:R102Q;ENSP00000384465:R102Q;ENSP00000319343:R102Q	ENSP00000319343:R102Q	R	+	2	0	CPT1C	54895776	0.154000	0.22792	0.936000	0.37596	0.025000	0.11179	0.712000	0.25779	0.142000	0.18901	-0.749000	0.03505	CGG	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465873.1		+	ENST00000392518.4	Missense_Mutation	SNP	19 : 50203964 - 50203964 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	895	83
R3HDM1	23518	broad.mit.edu	37	2	136409370	136409370	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136409370C>T	ENST00000410054.1	+	14	1857	c.1526C>T	c.(1525-1527)cCt>cTt	p.P509L	R3HDM1_ENST00000329971.3_Missense_Mutation_p.P435L|R3HDM1_ENST00000264160.4_Missense_Mutation_p.P564L|R3HDM1_ENST00000409606.1_Missense_Mutation_p.P565L|R3HDM1_ENST00000409478.1_Missense_Mutation_p.P436L	NM_001282800.1	NP_001269729.1	Q15032	R3HD1_HUMAN	R3H domain containing 1	564							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		GGTTCTGACCCTCATGCCGCC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													203	181	189			NA	NA	2		NA											NA				136409370		2203	4300	6503	SO:0001583	missense			D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991	23518	23518			9757	protein-coding gene	gene with protein product			R3H domain (binds single-stranded nucleic acids) containing	R3HDM	NA	7584026	Standard	NM_015361	NM_001282798	NA	Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000410054.1:c.1526C>T	2.37:g.136409370C>T	ENSP00000386877:p.Pro509Leu	NA	Q8IW32	37		.	.	.	.	.	.	.	.	.	.	C	27.8	4.863531	0.91511	.	.	ENSG00000048991	ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.42	5.42	0.78866	.	0.061254	0.64402	D	0.000002	T	0.68568	0.3015	M	0.75777	2.31	0.80722	D	1	D;P;D;D	0.61697	0.99;0.937;0.986;0.986	D;B;P;P	0.62955	0.909;0.328;0.674;0.674	T	0.71978	-0.4429	10	0.72032	D	0.01	-9.5794	19.2069	0.93734	0.0:1.0:0.0:0.0	.	436;565;509;564	G5E9G8;E9PBB4;E9PG42;Q15032	.;.;.;R3HD1_HUMAN	L	436;564;435;509;565	ENSP00000386457:P436L;ENSP00000264160:P564L;ENSP00000331396:P435L;ENSP00000386877:P509L;ENSP00000387010:P565L	ENSP00000264160:P564L	P	+	2	0	R3HDM1	136125840	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	4.235000	0.58666	2.520000	0.84964	0.561000	0.74099	CCT	R3HDM1-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000331546.2		+	ENST00000410054.1	Missense_Mutation	SNP	2 : 136409370 - 136409370 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1174	280
MYOT	9499	broad.mit.edu	37	5	137219167	137219167	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137219167G>A	ENST00000515645.1	+	8	849	c.566G>A	c.(565-567)gGt>gAt	p.G189D	MYOT_ENST00000239926.4_Missense_Mutation_p.G304D|RP11-381K20.2_ENST00000508281.2_RNA|MYOT_ENST00000509812.1_Intron|MYOT_ENST00000421631.2_Missense_Mutation_p.G120D|RP11-381K20.2_ENST00000514616.1_RNA			Q9UBF9	MYOTI_HUMAN	myotilin	304					muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TCTGAGAAGGGTCTTCATTCA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	120	123			NA	NA	5		NA											NA				137219167		2203	4300	6503	SO:0001583	missense			AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729	9499	9499		Immunoglobulin superfamily / I-set domain containing	12399	protein-coding gene	gene with protein product		604103	titin immunoglobulin domain protein (myotilin), limb-girdle muscular dystrophy 1A (autosomal dominant)	TTID, LGMD1A, LGMD1	NA	10486214, 10369880	Standard	NM_006790	NM_006790	NA	Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000515645.1:c.566G>A	5.37:g.137219167G>A	ENSP00000426281:p.Gly189Asp	NA	A0A4R6	37		.	.	.	.	.	.	.	.	.	.	G	33	5.203947	0.95033	.	.	ENSG00000120729	ENST00000239926;ENST00000421631;ENST00000515645	T;T;T	0.66995	-0.24;-0.24;-0.24	5.08	5.08	0.68730	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	T	0.80565	0.4647	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.81899	-0.0721	10	0.62326	D	0.03	.	18.8467	0.92210	0.0:0.0:1.0:0.0	.	304	Q9UBF9	MYOTI_HUMAN	D	304;120;189	ENSP00000239926:G304D;ENSP00000391185:G120D;ENSP00000426281:G189D	ENSP00000239926:G304D	G	+	2	0	MYOT	137247066	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.497000	0.84241	0.655000	0.94253	GGT	MYOT-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000372398.1		+	ENST00000515645.1	Missense_Mutation	SNP	5 : 137219167 - 137219167 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	526	95
JAK3	3718	broad.mit.edu	37	19	17937567	17937567	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17937567G>T	ENST00000527670.1	-	23	3389	c.3360C>A	c.(3358-3360)tcC>tcA	p.S1120S	JAK3_ENST00000458235.1_Silent_p.S1120S			P52333	JAK3_HUMAN	Janus kinase 3	1120					B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						AAAAGGACAGGGAGTGGTGTT	0.617		2	Mis		acute megakaryocytic leukemia, ETP ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0													173	146	155			NA	NA	19		NA											NA				17937567		2203	4300	6503	SO:0001819	synonymous_variant			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	3718	3718	2.7.10.1		6193	protein-coding gene	gene with protein product	tyrosine-protein kinase JAK3, leukocyte Janus kinase	600173			NA	8921370, 9226382	Standard	NM_000215	NM_000215	NA	Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.3360C>A	19.37:g.17937567G>T		NA	Q13259|Q13260|Q13611|Q99699|Q9Y6S2	37	CCDS12366.1																																																																																			JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385549.1		-	ENST00000527670.1	Silent	SNP	19 : 17937567 - 17937567 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	826	141
OAS3	4940	broad.mit.edu	37	12	113405976	113405976	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113405976C>T	ENST00000228928.7	+	14	3280	c.3101C>T	c.(3100-3102)cCc>cTc	p.P1034L	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	1034	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CTTCAGAAGCCCAGGTTCAGG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	34	34			NA	NA	12		NA											NA				113405976		1913	4123	6036	SO:0001583	missense			AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331	4940	4940			8088	protein-coding gene	gene with protein product		603351	2'-5'-oligoadenylate synthetase 3 (100 kD)		NA	9790745	Standard		NM_006187	NA	Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.3101C>T	12.37:g.113405976C>T	ENSP00000228928:p.Pro1034Leu	NA	Q2HJ14|Q9H3P5	37	CCDS44981.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.273682	0.40194	.	.	ENSG00000111331	ENST00000228928;ENST00000323881	T	0.43688	0.94	4.88	3.99	0.46301	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	.	.	.	.	T	0.48732	0.1516	M	0.82517	2.595	0.80722	D	1	P	0.50617	0.937	P	0.45428	0.48	T	0.55823	-0.8080	9	0.66056	D	0.02	.	8.9477	0.35769	0.0:0.899:0.0:0.101	.	1034	Q9Y6K5	OAS3_HUMAN	L	1034;1033	ENSP00000228928:P1034L	ENSP00000228928:P1034L	P	+	2	0	OAS3	111890359	0.807000	0.29009	0.936000	0.37596	0.082000	0.17680	1.627000	0.37050	1.270000	0.44297	-0.136000	0.14681	CCC	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405920.1		+	ENST00000228928.7	Missense_Mutation	SNP	12 : 113405976 - 113405976 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	169	47
KIAA1407	57577	broad.mit.edu	37	3	113720481	113720481	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113720481C>A	ENST00000295878.3	-	13	2270	c.2124G>T	c.(2122-2124)caG>caT	p.Q708H	KIAA1407_ENST00000545063.1_3'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	708										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TTCTTTCAAGCTGTGCCTCCT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													319	302	308			NA	NA	3		NA											NA				113720481		2203	4300	6503	SO:0001583	missense			AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617	57577	57577			29272	protein-coding gene	gene with protein product					NA	10718198	Standard	NM_020817	NM_020817	NA	Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.2124G>T	3.37:g.113720481C>A	ENSP00000295878:p.Gln708His	NA	Q9P2E0	37	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.125908	0.56721	.	.	ENSG00000163617	ENST00000295878	T	0.35048	1.33	5.19	-1.44	0.08856	.	0.303015	0.36200	N	0.002729	T	0.47893	0.1470	M	0.72118	2.19	0.50813	D	0.999891	D	0.69078	0.997	P	0.60473	0.875	T	0.45220	-0.9276	10	0.42905	T	0.14	.	9.9535	0.41653	0.0:0.3164:0.0:0.6836	.	708	Q8NCU4	K1407_HUMAN	H	708	ENSP00000295878:Q708H	ENSP00000295878:Q708H	Q	-	3	2	KIAA1407	115203171	0.796000	0.28864	0.651000	0.29564	0.985000	0.73830	-0.007000	0.12810	-0.159000	0.11021	-0.355000	0.07637	CAG	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354724.2		-	ENST00000295878.3	Missense_Mutation	SNP	3 : 113720481 - 113720481 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	990	74
FAM47B	170062	broad.mit.edu	37	X	34961432	34961432	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:34961432G>A	ENST00000329357.5	+	1	520	c.484G>A	c.(484-486)Gct>Act	p.A162T		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	162										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GCTGGAGGACGCTTGGGCTCG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	42	44			NA	NA	X		NA											NA				34961432		2202	4300	6502	SO:0001583	missense			BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132	170062	170062			26659	protein-coding gene	gene with protein product					NA	14702039	Standard	NM_152631	NM_152631	NA	Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.484G>A	X.37:g.34961432G>A	ENSP00000328307:p.Ala162Thr	NA	Q5JQN5|Q6PIG3	37	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.570869	0.00133	.	.	ENSG00000189132	ENST00000329357	T	0.20069	2.1	0.843	-1.69	0.08186	.	.	.	.	.	T	0.08403	0.0209	N	0.17922	0.545	0.09310	N	1	B	0.18741	0.03	B	0.16722	0.016	T	0.38499	-0.9658	9	0.02654	T	1	.	2.5263	0.04692	0.3189:0.0:0.4299:0.2512	.	162	Q8NA70	FA47B_HUMAN	T	162	ENSP00000328307:A162T	ENSP00000328307:A162T	A	+	1	0	FAM47B	34871353	0.008000	0.16893	0.007000	0.13788	0.001000	0.01503	-0.704000	0.05058	-1.178000	0.02741	-1.891000	0.00535	GCT	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056211.1		+	ENST00000329357.5	Missense_Mutation	SNP	X : 34961432 - 34961432 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	195	54
FSTL3	10272	broad.mit.edu	37	19	677877	677877	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:677877C>T	ENST00000166139.4	+	2	221	c.189C>T	c.(187-189)gcC>gcT	p.A63A		NM_005860.2	NP_005851.1	O95633	FSTL3_HUMAN	follistatin-like 3 (secreted glycoprotein)	63	TB.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	extracellular space|nucleus	activin binding|fibronectin binding				NA		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTGCTGTGCCTCCGGCAACA	0.647		NA	T	CCND1	B-CLL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		19	19p13	10272	follistatin-like 3 (secreted glycoprotein)		L	0													101	85	91			NA	NA	19		NA											NA				677877		2203	4300	6503	SO:0001819	synonymous_variant			U76702	CCDS12040.1	19p13	2008-07-16				ENSG00000070404	10272	10272			3973	protein-coding gene	gene with protein product	follistatin-related protein	605343			NA	9671416, 15527507	Standard	NM_005860	NM_005860	NA	Approved	FLRG, FSRP	uc002lpk.1	O95633		ENST00000166139.4:c.189C>T	19.37:g.677877C>T		NA	A8K7E3	37	CCDS12040.1																																																																																			FSTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452479.1		+	ENST00000166139.4	Silent	SNP	19 : 677877 - 677877 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	456	103
TMBIM4	51643	broad.mit.edu	37	12	66547187	66547187	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:66547187G>A	ENST00000286424.7	-	3	290	c.280C>T	c.(280-282)Ctc>Ttc	p.L94F	TMBIM4_ENST00000358230.3_Missense_Mutation_p.L47F|TMBIM4_ENST00000556010.1_Missense_Mutation_p.L47F|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000542724.1_Missense_Mutation_p.L16F|TMBIM4_ENST00000539652.1_Missense_Mutation_p.L47F|TMBIM4_ENST00000398033.4_Missense_Mutation_p.L47F			Q9HC24	TMBI4_HUMAN	transmembrane BAX inhibitor motif containing 4	47						integral to membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		GTAGTTAAGAGAACCTGCAGA	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	76	77			NA	NA	12		NA											NA				66547187		1820	4062	5882	SO:0001583	missense			AF113127	CCDS41805.1, CCDS61187.1, CCDS73493.1	12q14.3	2014-05-09			ENSG00000155957	ENSG00000155957	51643	51643			24257	protein-coding gene	gene with protein product					NA	11042152, 10810093	Standard	NM_016056	NM_001282609	NA	Approved	CGI-119, S1R, ZPRO, LFG4, GAAP	uc001stc.3	Q9HC24	OTTHUMG00000168973	ENST00000286424.7:c.280C>T	12.37:g.66547187G>A	ENSP00000286424:p.Leu94Phe	NA	Q542Z6|Q9UHY5|Q9Y3C2	37		.	.	.	.	.	.	.	.	.	.	G	13.66	2.302088	0.40694	.	.	ENSG00000155957	ENST00000556010;ENST00000358230;ENST00000426857;ENST00000286424;ENST00000398033;ENST00000539043;ENST00000539427;ENST00000542724	T;T;T;T;T	0.54279	0.72;0.72;0.72;0.72;0.58	5.46	5.46	0.80206	.	0.064425	0.64402	D	0.000009	T	0.54727	0.1876	L	0.61387	1.9	0.52099	D	0.999947	P;B;P;B;B	0.35844	0.524;0.185;0.524;0.087;0.179	B;B;B;B;B	0.42112	0.376;0.14;0.376;0.063;0.33	T	0.53034	-0.8495	9	.	.	.	-14.5531	12.2315	0.54490	0.0821:0.0:0.9179:0.0	.	47;94;47;16;47	E7EWY5;G3XAA5;E7EQ00;G3V1M2;Q9HC24	.;.;.;.;TMBI4_HUMAN	F	47;47;47;94;47;47;93;16	ENSP00000451688:L47F;ENSP00000350965:L47F;ENSP00000286424:L94F;ENSP00000381114:L47F;ENSP00000441291:L16F	.	L	-	1	0	TMBIM4	64833454	1.000000	0.71417	1.000000	0.80357	0.423000	0.31445	2.312000	0.43726	2.548000	0.85928	0.655000	0.94253	CTC	TMBIM4-006	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000401833.1		-	ENST00000286424.7	Missense_Mutation	SNP	12 : 66547187 - 66547187 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	336	56
LRP5L	91355	broad.mit.edu	37	22	25750768	25750768	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25750768G>A	ENST00000444995.3	-	6	1150	c.450C>T	c.(448-450)gtC>gtT	p.V150V	LRP5L_ENST00000402785.2_Silent_p.V150V|LRP5L_ENST00000402859.2_Silent_p.V150V			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	150								p.V150V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						TCGTCTCATCGACACTGATCG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	cervix(1)											110	97	101			NA	NA	22		NA											NA				25750768		2200	4300	6500	SO:0001819	synonymous_variant			AL137651	CCDS33626.1	22q11.23	2013-05-30			ENSG00000100068	ENSG00000100068	91355	91355			25323	protein-coding gene	gene with protein product					NA		Standard	NM_182492	NM_182492	NA	Approved	DKFZp434O0213	uc011ajz.2	A4QPB2	OTTHUMG00000150900	ENST00000444995.3:c.450C>T	22.37:g.25750768G>A		NA	B0QYF3|B0QYF4|B2RPI5	37																																																																																				LRP5L-005	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000320480.2		-	ENST00000444995.3	Silent	SNP	22 : 25750768 - 25750768 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	268	52
SMARCAD1	56916	broad.mit.edu	37	4	95174129	95174129	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:95174129C>T	ENST00000354268.4	+	9	1325	c.1252C>T	c.(1252-1254)Ctc>Ttc	p.L418F	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.L418F			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	418					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		GATAACAGAACTCCGGCCCTT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	101	98			NA	NA	4		NA											NA				95174129		2203	4300	6503	SO:0001583	missense			AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104	56916	56916			18398	protein-coding gene	gene with protein product		612761			NA	11031099	Standard	NM_020159	NM_001128430	NA	Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.1252C>T	4.37:g.95174129C>T	ENSP00000346217:p.Leu418Phe	NA	Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	37	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310151	0.60414	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268	D;D;D	0.89196	-2.48;-2.48;-2.47	5.49	5.49	0.81192	.	0.000000	0.44688	D	0.000424	D	0.92071	0.7487	M	0.69823	2.125	0.80722	D	1	P;D	0.55800	0.954;0.973	P;P	0.59889	0.668;0.865	D	0.89337	0.3651	10	0.14656	T	0.56	-7.8768	15.7026	0.77552	0.0:0.8632:0.1368:0.0	.	418;418	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	F	418	ENSP00000351947:L418F;ENSP00000415576:L418F;ENSP00000346217:L418F	ENSP00000346217:L418F	L	+	1	0	SMARCAD1	95393152	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.814000	0.55643	2.582000	0.87167	0.655000	0.94253	CTC	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253583.1		+	ENST00000354268.4	Missense_Mutation	SNP	4 : 95174129 - 95174129 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	819	154
KIAA0226	9711	broad.mit.edu	37	3	197408739	197408739	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197408739G>A	ENST00000273582.5	-	16	2568	c.2023C>T	c.(2023-2025)Cgc>Tgc	p.R675C	KIAA0226_ENST00000389665.5_Missense_Mutation_p.R745C|KIAA0226_ENST00000296343.5_Missense_Mutation_p.R720C	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	720					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CCTGCACAGCGGTAATTCTGC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(3;167 355 3763 15924)							NA				0								G	CYS/ARG,CYS/ARG	0,4318		0,0,2159	100	112	108		2023,2158	5.4	1	3		108	1,8501		0,1,4250	no	missense,missense	KIAA0226	NM_001145642.2,NM_014687.1	180,180	0,1,6409	AA,AG,GG	NA	0.0118,0.0,0.0078	probably-damaging,probably-damaging	675/928,720/973	197408739	1,12819	2159	4251	6410	SO:0001583	missense			D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016	9711	9711			28991	protein-coding gene	gene with protein product	RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein	613516			NA	9039502, 19270693, 20826435	Standard	XM_032901	XM_005269374	NA	Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000273582.5:c.2023C>T	3.37:g.197408739G>A	ENSP00000273582:p.Arg675Cys	NA	Q96CK5	37	CCDS46987.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.0|25.0	4.594923|4.594923	0.86953|0.86953	0.0|0.0	1.18E-4|1.18E-4	ENSG00000145016|ENSG00000145016	ENST00000413360|ENST00000273582;ENST00000296343;ENST00000389665	.|.	.|.	.|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.119767	.|0.64402	.|D	.|0.000019	T|T	0.79293|0.79293	0.4421|0.4421	M|M	0.75615|0.75615	2.305|2.305	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.78314	.|0.991;0.975;0.988	T|T	0.79654|0.79654	-0.1713|-0.1713	5|9	.|0.52906	.|T	.|0.07	.|.	17.798|17.798	0.88579|0.88579	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|745;675;720	.|Q92622-3;Q92622-2;Q92622	.|.;.;RUBIC_HUMAN	L|C	681|675;720;745	.|.	.|ENSP00000273582:R675C	P|R	-|-	2|1	0|0	KIAA0226|KIAA0226	198893136|198893136	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.984000|4.984000	0.63838|0.63838	2.709000|2.709000	0.92574|0.92574	0.655000|0.655000	0.94253|0.94253	CCG|CGC	KIAA0226-001	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340174.3		-	ENST00000273582.5	Missense_Mutation	SNP	3 : 197408739 - 197408739 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	282	35
N6AMT2	221143	broad.mit.edu	37	13	21303256	21303256	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21303256T>C	ENST00000382758.1	-	5	655	c.608A>G	c.(607-609)tAt>tGt	p.Y203C	N6AMT2_ENST00000382754.4_Missense_Mutation_p.Y203C			Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2 (putative)	203							methyltransferase activity|nucleic acid binding			endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ATAATTCACATAACAGCGAAA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													225	211	215			NA	NA	13		NA											NA				21303256		2203	4300	6503	SO:0001583	missense			AK055408	CCDS9293.1	13q12.11	2006-12-14			ENSG00000150456	ENSG00000150456	221143	221143			27351	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_174928	NM_174928	NA	Approved		uc001uno.1	Q8WVE0	OTTHUMG00000016519	ENST00000382758.1:c.608A>G	13.37:g.21303256T>C	ENSP00000372206:p.Tyr203Cys	NA	B5G4V1	37	CCDS9293.1	.	.	.	.	.	.	.	.	.	.	T	18.98	3.737635	0.69304	.	.	ENSG00000150456	ENST00000382758;ENST00000382754	T;T	0.54279	0.58;0.58	5.86	4.66	0.58398	.	0.124958	0.56097	D	0.000029	T	0.59500	0.2198	M	0.82323	2.585	0.80722	D	1	B	0.27997	0.197	B	0.34242	0.178	T	0.60424	-0.7266	10	0.54805	T	0.06	.	12.3921	0.55364	0.1262:0.0:0.0:0.8737	.	203	Q8WVE0	N6MT2_HUMAN	C	203	ENSP00000372206:Y203C;ENSP00000372202:Y203C	ENSP00000372202:Y203C	Y	-	2	0	N6AMT2	20201256	1.000000	0.71417	0.981000	0.43875	0.917000	0.54804	4.848000	0.62874	1.025000	0.39708	0.533000	0.62120	TAT	N6AMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044083.1		-	ENST00000382758.1	Missense_Mutation	SNP	13 : 21303256 - 21303256 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1067	160
ZBTB47	92999	broad.mit.edu	37	3	42705408	42705408	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42705408C>T	ENST00000232974.6	+	5	2138	c.1857C>T	c.(1855-1857)ttC>ttT	p.F619F	ZBTB47_ENST00000505904.1_Silent_p.F165F|ZBTB47_ENST00000457842.3_Silent_p.F243F			Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		AGCAGTACTTCGATGAGCACA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	63	63			NA	NA	3		NA											NA				42705408		2203	4299	6502	SO:0001819	synonymous_variant			AB033016	CCDS46805.1, CCDS46805.2	3p22.1	2013-01-08	2006-09-19	2006-09-19	ENSG00000114853	ENSG00000114853	92999	92999		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	26955	protein-coding gene	gene with protein product			zinc finger protein 651	ZNF651	NA	10574461	Standard	NM_145166	NM_145166	NA	Approved	KIAA1190, DKFZp434N0615	uc003clu.2	Q9UFB7	OTTHUMG00000156207	ENST00000232974.6:c.1857C>T	3.37:g.42705408C>T		NA	Q8WTY8|Q9ULN0	37	CCDS46805.2																																																																																			ZBTB47-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343485.3		+	ENST00000232974.6	Silent	SNP	3 : 42705408 - 42705408 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	126	29
SMARCA2	6595	broad.mit.edu	37	9	2073274	2073274	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2073274C>T	ENST00000382203.1	+	11	2018	c.1809C>T	c.(1807-1809)ggC>ggT	p.G603G	SMARCA2_ENST00000357248.2_Silent_p.G603G|SMARCA2_ENST00000382194.1_Silent_p.G603G|SMARCA2_ENST00000349721.2_Silent_p.G603G			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	603					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CAGAAACCGGCAAGGTTCTGT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	75	75			NA	NA	9		NA											NA				2073274		2203	4300	6503	SO:0001819	synonymous_variant			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503	6595	6595			11098	protein-coding gene	gene with protein product		600014		SNF2L2	NA	8012116	Standard	NM_003070	NM_003070	NA	Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.1809C>T	9.37:g.2073274C>T		NA	B1ALG3|B1ALG4|D3DRH4|D3DRH5	37	CCDS34977.1																																																																																			SMARCA2-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051505.1		+	ENST00000382203.1	Silent	SNP	9 : 2073274 - 2073274 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	249	35
BICD2	23299	broad.mit.edu	37	9	95481113	95481113	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95481113C>A	ENST00000356884.6	-	5	1881	c.1814G>T	c.(1813-1815)aGc>aTc	p.S605I	BICD2_ENST00000375512.3_Missense_Mutation_p.S605I	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	605					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CGAGGGGCTGCTGTCCCCCGT	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	24	25			NA	NA	9		NA											NA				95481113		2196	4296	6492	SO:0001583	missense			AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963	23299	23299			17208	protein-coding gene	gene with protein product		609797			NA	9734811	Standard	NM_015250	NM_001003800	NA	Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000356884.6:c.1814G>T	9.37:g.95481113C>A	ENSP00000349351:p.Ser605Ile	NA	O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	37	CCDS35064.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.948065	0.34377	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.43688	0.94;0.94	5.18	4.27	0.50696	.	0.256048	0.45606	D	0.000344	T	0.34774	0.0909	L	0.34521	1.04	0.26791	N	0.969393	P;P	0.45474	0.859;0.772	B;P	0.46629	0.387;0.522	T	0.12604	-1.0541	10	0.36615	T	0.2	-22.7187	7.5499	0.27790	0.0:0.8025:0.0:0.1975	.	605;605	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	I	605	ENSP00000349351:S605I;ENSP00000364662:S605I	ENSP00000349351:S605I	S	-	2	0	BICD2	94520934	1.000000	0.71417	1.000000	0.80357	0.158000	0.22134	2.114000	0.41911	1.307000	0.44944	0.561000	0.74099	AGC	BICD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055507.1		-	ENST00000356884.6	Missense_Mutation	SNP	9 : 95481113 - 95481113 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	199	45
WSCD2	9671	broad.mit.edu	37	12	108626655	108626655	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108626655G>A	ENST00000332082.4	+	8	1945	c.1127G>A	c.(1126-1128)gGc>gAc	p.G376D	WSCD2_ENST00000549903.1_Missense_Mutation_p.G376D|WSCD2_ENST00000261400.3_Missense_Mutation_p.G376D|WSCD2_ENST00000547525.1_Missense_Mutation_p.G376D			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	376						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TACTTCGATGGCTCCCTCTAC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	46	46			NA	NA	12		NA											NA				108626655		2067	4218	6285	SO:0001583	missense				CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035	9671	9671			29117	protein-coding gene	gene with protein product					NA		Standard	NM_014653	NM_014653	NA	Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.1127G>A	12.37:g.108626655G>A	ENSP00000331933:p.Gly376Asp	NA	B2RN48|Q8IY35|Q9Y4B7	37	CCDS41828.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764889	0.90020	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000332082;ENST00000549903	T;T;T;T	0.30981	1.51;4.64;1.51;4.64	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.54303	0.1850	M	0.64080	1.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.977;0.998	T	0.54029	-0.8354	10	0.56958	D	0.05	-32.4055	17.703	0.88301	0.0:0.0:1.0:0.0	.	376;376	Q2TBF2-2;Q2TBF2	.;WSCD2_HUMAN	D	376	ENSP00000448047:G376D;ENSP00000261400:G376D;ENSP00000331933:G376D;ENSP00000447272:G376D	ENSP00000261400:G376D	G	+	2	0	WSCD2	107150785	1.000000	0.71417	0.993000	0.49108	0.971000	0.66376	9.263000	0.95617	2.644000	0.89710	0.563000	0.77884	GGC	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405554.1		+	ENST00000332082.4	Missense_Mutation	SNP	12 : 108626655 - 108626655 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	47
ARID1A	8289	broad.mit.edu	37	1	27059196	27059196	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27059196G>T	ENST00000457599.2	+	4	1833	c.1833G>T	c.(1831-1833)caG>caT	p.Q611H	ARID1A_ENST00000374152.2_Missense_Mutation_p.Q228H|ARID1A_ENST00000324856.7_Missense_Mutation_p.Q611H	NM_139135.2	NP_624361.1	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	611					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TTGGGTCTCAGGCATCCTCAG	0.473		NA	Mis, N, F, S, D		clear cell ovarian carcinoma, RCC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													138	121	127			NA	NA	1		NA											NA				27059196		2203	4300	6503	SO:0001583	missense			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713	8289	8289		-	11110	protein-coding gene	gene with protein product		603024	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1, AT rich interactive domain 1A (SWI- like)	C1orf4, SMARCF1	NA	9630625, 9434167	Standard	NM_139135	NM_139135	NA	Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000457599.2:c.1833G>T	1.37:g.27059196G>T	ENSP00000387636:p.Gln611His	NA	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	37	CCDS44091.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332250	0.41297	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.02737	4.38;4.18;4.22	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.07188	0.0182	L	0.57536	1.79	0.80722	D	1	P;D;P	0.54601	0.944;0.967;0.944	P;P;P	0.52217	0.497;0.693;0.497	T	0.04946	-1.0916	10	0.49607	T	0.09	-6.0683	9.9444	0.41600	0.151:0.0:0.849:0.0	.	611;611;265	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	H	611;611;228	ENSP00000320485:Q611H;ENSP00000387636:Q611H;ENSP00000363267:Q228H	ENSP00000320485:Q611H	Q	+	3	2	ARID1A	26931783	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.698000	0.47068	2.592000	0.87571	0.491000	0.48974	CAG	ARID1A-002	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000011438.2		+	ENST00000457599.2	Missense_Mutation	SNP	1 : 27059196 - 27059196 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	380	61
GAL3ST1	9514	broad.mit.edu	37	22	30951676	30951676	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30951676G>A	ENST00000402321.1	-	3	853	c.536C>T	c.(535-537)cCg>cTg	p.P179L	GAL3ST1_ENST00000406361.1_Missense_Mutation_p.P179L|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.P179L|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.P179L|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.P179L|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.P179L|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.P179L			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	179					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GGGCACCACCGGCCCGAAGTA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	55	54			NA	NA	22		NA											NA				30951676		2203	4300	6503	SO:0001583	missense			D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242	9514	9514		Sulfotransferases, membrane-bound	24240	protein-coding gene	gene with protein product	cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase	602300			NA	9847074, 9030544	Standard	NM_004861	NM_004861	NA	Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.536C>T	22.37:g.30951676G>A	ENSP00000385735:p.Pro179Leu	NA	Q96C63	37	CCDS13879.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304641	0.23736	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111;ENST00000441967;ENST00000431313;ENST00000452827;ENST00000437282	T;T;T;T;T;T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53	5.25	4.02	0.46733	.	0.516617	0.20886	N	0.083911	T	0.04770	0.0129	N	0.02751	-0.505	0.21579	N	0.999634	B	0.06786	0.001	B	0.04013	0.001	T	0.41142	-0.9525	10	0.10636	T	0.68	-13.4125	8.4766	0.33016	0.0979:0.2798:0.6223:0.0	.	179	Q99999	G3ST1_HUMAN	L	179;179;179;179;179;179;179;179;180;179;179	ENSP00000385825:P179L;ENSP00000385735:P179L;ENSP00000384122:P179L;ENSP00000384388:P179L;ENSP00000343234:P179L;ENSP00000385207:P179L;ENSP00000402587:P179L;ENSP00000390545:P179L;ENSP00000395080:P180L;ENSP00000405017:P179L;ENSP00000401426:P179L	ENSP00000343234:P179L	P	-	2	0	GAL3ST1	29281676	0.006000	0.16342	0.044000	0.18714	0.959000	0.62525	1.643000	0.37217	2.462000	0.83206	0.491000	0.48974	CCG	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321745.1		-	ENST00000402321.1	Missense_Mutation	SNP	22 : 30951676 - 30951676 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	570	104
THEMIS	387357	broad.mit.edu	37	6	128134756	128134756	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:128134756G>A	ENST00000368250.1	-	5	1291	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W	THEMIS_ENST00000543064.1_Missense_Mutation_p.R344W|THEMIS_ENST00000537166.1_Missense_Mutation_p.R309W|THEMIS_ENST00000368248.2_Missense_Mutation_p.R344W			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	344	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CTCGGTCGCCGCTTGAACTTG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	89	88			NA	NA	6		NA											NA				128134756		2203	4300	6503	SO:0001583	missense			AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673	387357	387357			21569	protein-coding gene	gene with protein product	thymocyte expressed molecule involved in selection	613607	chromosome 6 open reading frame 207, chromosome 6 open reading frame 190, thymocyte selection pathway associated	C6orf207, C6orf190, TSEPA	NA	19597499, 19597498, 19597497	Standard	NM_001010923	NM_001010923	NA	Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368250.1:c.793C>T	6.37:g.128134756G>A	ENSP00000357233:p.Arg265Trp	NA	A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|Q5T3C4|Q5T3C5|Q6MZT7	37		.	.	.	.	.	.	.	.	.	.	G	17.11	3.304997	0.60305	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166;ENST00000434358	T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4	5.55	-2.58	0.06228	.	0.000000	0.85682	D	0.000000	T	0.33556	0.0867	M	0.83223	2.63	0.44816	D	0.997821	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.59731	-0.7399	10	0.87932	D	0	-12.3425	18.7037	0.91630	0.0:0.0:0.1846:0.8154	.	344;344	F5H1J9;Q8N1K5	.;THMS1_HUMAN	W	265;344;344;309;112	ENSP00000357233:R265W;ENSP00000439594:R344W;ENSP00000357231:R344W;ENSP00000439863:R309W;ENSP00000387740:R112W	ENSP00000357231:R344W	R	-	1	2	THEMIS	128176449	0.996000	0.38824	0.996000	0.52242	0.990000	0.78478	0.253000	0.18296	-0.097000	0.12307	0.462000	0.41574	CGG	THEMIS-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000042156.1		-	ENST00000368250.1	Missense_Mutation	SNP	6 : 128134756 - 128134756 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	554	108
CNOT4	4850	broad.mit.edu	37	7	135079029	135079029	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135079029A>G	ENST00000428680.2	-	10	1538	c.1259T>C	c.(1258-1260)cTg>cCg	p.L420P	CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000361528.4_Missense_Mutation_p.L420P|CNOT4_ENST00000315544.5_Missense_Mutation_p.L423P|CNOT4_ENST00000423368.2_Missense_Mutation_p.L423P|CNOT4_ENST00000541284.1_Missense_Mutation_p.L423P|CNOT4_ENST00000451834.1_Missense_Mutation_p.L420P	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	423					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TTGAACGGACAGTTCCTTCTC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(51;766 1130 5502 35047 50875)							NA				0													134	135	135			NA	NA	7		NA											NA				135079029		1979	4154	6133	SO:0001583	missense			AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802	4850	4850		RNA binding motif (RRM) containing	7880	protein-coding gene	gene with protein product		604911		NOT4	NA	10637334	Standard	NM_013316	NM_013316	NA	Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000428680.2:c.1259T>C	7.37:g.135079029A>G	ENSP00000399108:p.Leu420Pro	NA	O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	37	CCDS47719.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.105960	0.77096	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000428680;ENST00000315544	T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.61035	0.2315	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D	0.71674	0.997;0.998;0.995;0.997;0.997;0.997	D;D;D;D;D;D	0.78314	0.942;0.974;0.979;0.991;0.991;0.991	T	0.58487	-0.7628	10	0.31617	T	0.26	-6.5092	15.5295	0.75942	1.0:0.0:0.0:0.0	.	420;423;423;420;423;420	E7ET38;F8VQP3;O95628;O95628-2;O95628-4;O95628-8	.;.;CNOT4_HUMAN;.;.;.	P	423;420;423;423;420;420;423	ENSP00000445508:L423P;ENSP00000388491:L420P;ENSP00000406777:L423P;ENSP00000354673:L420P;ENSP00000399108:L420P;ENSP00000326731:L423P	ENSP00000262563:L423P	L	-	2	0	CNOT4	134729569	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.254000	0.74563	0.533000	0.62120	CTG	CNOT4-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340669.1		-	ENST00000428680.2	Missense_Mutation	SNP	7 : 135079029 - 135079029 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	511	87
ESRRB	2103	broad.mit.edu	37	14	76905708	76905708	+	Silent	SNP	C	C	T	rs1141580		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76905708C>T	ENST00000509242.1	+	3	110	c.12C>T	c.(10-12)gaC>gaT	p.D4D	ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000261532.7_Silent_p.D4D|ESRRB_ENST00000556177.1_Silent_p.D4D|ESRRB_ENST00000380887.2_Silent_p.D4D	NM_004452.3	NP_004443.3	A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	4						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TGTCCTCGGACGACAGGCACC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	67	65			NA	NA	14		NA											NA				76905708		2195	4287	6482	SO:0001819	synonymous_variant			X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715	2103	2103		Nuclear hormone receptors	3473	protein-coding gene	gene with protein product		602167	deafness, autosomal recessive 35	ESRL2, DFNB35	NA	3267207, 9344655, 18179891	Standard		NM_004452	NA	Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.12C>T	14.37:g.76905708C>T		NA		37	CCDS9850.2																																																																																			ESRRB-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360663.1		+	ENST00000509242.1	Silent	SNP	14 : 76905708 - 76905708 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	844	142
TYW5	129450	broad.mit.edu	37	2	200820134	200820134	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200820134C>T	ENST00000354611.4	-	1	325	c.60G>A	c.(58-60)atG>atA	p.M20I	TYW5_ENST00000452512.2_5'UTR|C2orf69_ENST00000491721.1_3'UTR|C2orf47_ENST00000295079.2_Intron	NM_001039693.2	NP_001034782.1	A2RUC4	TYW5_HUMAN	tRNA-yW synthesizing protein 5	20					wybutosine biosynthetic process		iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein homodimerization activity|tRNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(1)	8						AGAGGTGCTGCATGAACTGCT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	33	32			NA	NA	2		NA											NA				200820134		1942	4144	6086	SO:0001583	missense			AK095272	CCDS42795.1	2q33.1	2011-05-09	2011-05-09	2011-05-09	ENSG00000162971	ENSG00000162971	129450	129450			26754	protein-coding gene	gene with protein product			chromosome 2 open reading frame 60	C2orf60	NA	20739293	Standard	NM_001039693	NM_001039693	NA	Approved	FLJ37953	uc002uvi.4	A2RUC4	OTTHUMG00000132770	ENST00000354611.4:c.60G>A	2.37:g.200820134C>T	ENSP00000346627:p.Met20Ile	NA	B2RNE3|Q8N1R2	37	CCDS42795.1	.	.	.	.	.	.	.	.	.	.	C	9.670	1.146499	0.21288	.	.	ENSG00000162971	ENST00000354611	T	0.22134	1.97	5.65	1.73	0.24493	.	0.243441	0.27531	N	0.018948	T	0.04998	0.0134	N	0.00729	-1.24	0.50313	D	0.999866	B;B	0.11235	0.004;0.0	B;B	0.10450	0.005;0.0	T	0.28618	-1.0038	10	0.19590	T;T	0.45;0.45	0.0457	5.8009	0.18414	0.0:0.5295:0.2576:0.2129	.	20;20	A8KAJ9;A2RUC4	.;TYW5_HUMAN	I	20	ENSP00000346627:M20I	ENSP00000346627:M20I;ENSP00000346627:M20I	M	-	3	0	TYW5	200528379	0.000000	0.05858	0.017000	0.16124	0.076000	0.17211	-0.496000	0.06436	0.146000	0.19002	0.655000	0.94253	ATG	TYW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256144.3		-	ENST00000354611.4	Missense_Mutation	SNP	2 : 200820134 - 200820134 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	140	9
KALRN	8997	broad.mit.edu	37	3	124211723	124211723	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124211723G>T	ENST00000240874.3	+	32	4977	c.4820G>T	c.(4819-4821)aGt>aTt	p.S1607I	KALRN_ENST00000360013.3_Missense_Mutation_p.S1607I|KALRN_ENST00000460856.1_Missense_Mutation_p.S1598I	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1607					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGGAACAATAGTAAGAGGTAA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	110	107			NA	NA	3		NA											NA				124211723		2203	4300	6503	SO:0001583	missense			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145	8997	8997		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	4814	protein-coding gene	gene with protein product	serine/threonine kinase with Dbl and pleckstrin homology domains	604605	huntingtin-associated protein interacting protein (duo)	HAPIP	NA	9285789, 10023074	Standard	NM_003947	NM_001024660	NA	Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.4820G>T	3.37:g.124211723G>T	ENSP00000240874:p.Ser1607Ile	NA	A8MSI4|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	37	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.92|14.92	2.680189|2.680189	0.47886|0.47886	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|.	0.22945|.	1.93;1.93;1.93|.	5.55|5.55	5.55|5.55	0.83447|0.83447	Pleckstrin homology-type (1);|.	0.049843|.	0.85682|.	D|.	0.000000|.	T|T	0.59142|0.59142	0.2172|0.2172	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	B;B;P|.	0.46512|.	0.042;0.421;0.879|.	B;B;B|.	0.43103|.	0.016;0.079;0.408|.	T|T	0.50857|0.50857	-0.8778|-0.8778	10|5	0.49607|.	T|.	0.09|.	.|.	19.6941|19.6941	0.96016|0.96016	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1598;1607;1607|.	C9IZQ6;O60229;O60229-2|.	.;KALRN_HUMAN;.|.	I|L	1598;1607;1607|1576	ENSP00000418611:S1598I;ENSP00000240874:S1607I;ENSP00000353109:S1607I|.	ENSP00000240874:S1607I|.	S|V	+|+	2|1	0|0	KALRN|KALRN	125694413|125694413	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.087000|5.087000	0.64480|0.64480	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	AGT|GTA	KALRN-005	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258843.4		+	ENST00000240874.3	Missense_Mutation	SNP	3 : 124211723 - 124211723 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	355	74
TRIM56	81844	broad.mit.edu	37	7	100730866	100730866	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100730866T>C	ENST00000306085.6	+	3	570	c.273T>C	c.(271-273)tgT>tgC	p.C91C		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	91					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CCCGGGCCTGTGGAGACCTGC	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(89;1092 1379 22756 38989 39611)							NA				0													31	39	37			NA	NA	7		NA											NA				100730866		2122	4226	6348	SO:0001819	synonymous_variant			BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871	81844	81844		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	19028	protein-coding gene	gene with protein product			tripartite motif-containing 56		NA		Standard	NM_030961	NM_030961	NA	Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.273T>C	7.37:g.100730866T>C		NA	Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	37	CCDS43625.1																																																																																			TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347185.1		+	ENST00000306085.6	Silent	SNP	7 : 100730866 - 100730866 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	656	116
RBPJ	3516	broad.mit.edu	37	4	26417218	26417218	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26417218G>T	ENST00000504907.1	+	4	450	c.274G>T	c.(274-276)Gga>Tga	p.G92*	RBPJ_ENST00000348160.4_Nonsense_Mutation_p.G93*|RBPJ_ENST00000355476.3_Nonsense_Mutation_p.G92*|RBPJ_ENST00000342295.1_Nonsense_Mutation_p.G106*|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000342320.4_Nonsense_Mutation_p.G92*|RBPJ_ENST00000507561.1_Nonsense_Mutation_p.G71*|RBPJ_ENST00000361572.6_Nonsense_Mutation_p.G106*|RBPJ_ENST00000345843.3_Nonsense_Mutation_p.G91*			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	106					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TATTGGGATAGGAAATAGTGA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	144	142			NA	NA	4		NA											NA				26417218		2203	4300	6503	SO:0001587	stop_gained			L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214	3516	3516			5724	protein-coding gene	gene with protein product	suppressor of hairless homolog (Drosophila)	147183	recombining binding protein suppressor of hairless (Drosophila)	IGKJRB1, RBPSUH	NA	8406481, 9290259	Standard	NM_015874	NM_005349	NA	Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000504907.1:c.274G>T	4.37:g.26417218G>T	ENSP00000423703:p.Gly92*	NA	Q5XKH9|Q6P1N3	37		.	.	.	.	.	.	.	.	.	.	G	33	5.278968	0.95489	.	.	ENSG00000168214	ENST00000512351;ENST00000510778;ENST00000506956;ENST00000512671;ENST00000345843;ENST00000342295;ENST00000361572;ENST00000348160;ENST00000355476;ENST00000507561;ENST00000514730;ENST00000507574;ENST00000514675;ENST00000515573;ENST00000511546;ENST00000504907;ENST00000342320;ENST00000504938	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-17.5728	19.4292	0.94758	0.0:0.0:1.0:0.0	.	.	.	.	X	92;129;92;106;91;106;106;93;92;71;92;71;92;71;92;92;92;71	.	ENSP00000345206:G106X	G	+	1	0	RBPJ	26026316	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.378000	0.97191	2.664000	0.90586	0.650000	0.86243	GGA	RBPJ-010	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000360124.1		+	ENST00000504907.1	Nonsense_Mutation	SNP	4 : 26417218 - 26417218 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	946	165
ENOX2	10495	broad.mit.edu	37	X	129771328	129771328	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129771328G>T	ENST00000370935.1	-	10	1457	c.1186C>A	c.(1186-1188)Ctc>Atc	p.L396I	ENOX2_ENST00000338144.3_Missense_Mutation_p.L425I|ENOX2_ENST00000370927.1_Missense_Mutation_p.L425I|ENOX2_ENST00000394363.1_Missense_Mutation_p.L396I	NM_001281736.1	NP_001268665.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	425					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	p.L425I(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TAGGCATCGAGCTGCCAACGG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(101;828 1506 2951 9500 35258)							NA				1	Substitution - Missense(1)	endometrium(1)											240	188	206			NA	NA	X		NA											NA				129771328		2203	4300	6503	SO:0001583	missense			AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675	10495	10495		RNA binding motif (RRM) containing	2259	protein-coding gene	gene with protein product		300282	cytosolic ovarian carcinoma antigen 1	COVA1	NA	8150545, 11888291	Standard	NM_182314	NM_006375	NA	Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370935.1:c.1186C>A	X.37:g.129771328G>T	ENSP00000359973:p.Leu396Ile	NA	A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	37	CCDS14627.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622491	0.66787	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927	T;T	0.30448	1.53;1.53	5.09	4.19	0.49359	.	0.077113	0.53938	D	0.000052	T	0.38134	0.1029	M	0.73217	2.22	0.47659	D	0.999484	P;P	0.38020	0.615;0.615	B;B	0.43082	0.407;0.407	T	0.20672	-1.0268	9	.	.	.	-9.705	12.2879	0.54803	0.0:0.1667:0.8333:0.0	.	425;453	Q16206;A4QPE1	ENOX2_HUMAN;.	I	396;396;425;396;453;425	ENSP00000337146:L425I;ENSP00000359965:L425I	.	L	-	1	0	ENOX2	129599009	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	5.113000	0.64640	2.345000	0.79718	0.600000	0.82982	CTC	ENOX2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058276.1		-	ENST00000370935.1	Missense_Mutation	SNP	X : 129771328 - 129771328 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	513	171
POU6F1	5463	broad.mit.edu	37	12	51589917	51589917	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51589917C>T	ENST00000389243.4	-	8	1024	c.85G>A	c.(85-87)Gtg>Atg	p.V29M	POU6F1_ENST00000550824.1_Missense_Mutation_p.V29M|POU6F1_ENST00000333640.10_Missense_Mutation_p.V29M			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	29	Gln/Pro-rich.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						GGGGCCGCCACACTAGCTGAG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	21	20			NA	NA	12		NA											NA				51589917		2199	4296	6495	SO:0001583	missense			AL832881	CCDS31803.1	12q13.13	2011-06-20	2007-07-13			ENSG00000184271	5463	5463		Homeoboxes / POU class	9224	protein-coding gene	gene with protein product			POU domain, class 6, transcription factor 1		NA	7908264	Standard	NM_002702	NM_002702	NA	Approved	BRN5, MPOU, TCFB1	uc001rxz.3	Q14863		ENST00000389243.4:c.85G>A	12.37:g.51589917C>T	ENSP00000373895:p.Val29Met	NA	Q15944|Q6DK47|Q7Z7P6	37	CCDS31803.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443141	0.43326	.	.	ENSG00000184271	ENST00000389243;ENST00000333640;ENST00000550824;ENST00000547855	D;D;D	0.85484	-1.99;-1.99;-1.99	5.5	2.01	0.26516	.	2.733070	0.01422	N	0.014403	T	0.76652	0.4017	N	0.22421	0.69	0.23356	N	0.997846	B	0.11235	0.004	B	0.11329	0.006	T	0.62515	-0.6838	10	0.38643	T	0.18	.	5.3209	0.15881	0.0:0.5829:0.1638:0.2533	.	29	Q14863	PO6F1_HUMAN	M	29	ENSP00000373895:V29M;ENSP00000330190:V29M;ENSP00000448389:V29M	ENSP00000330190:V29M	V	-	1	0	POU6F1	49876184	0.000000	0.05858	0.982000	0.44146	0.989000	0.77384	-0.065000	0.11617	1.333000	0.45449	0.555000	0.69702	GTG	POU6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405126.1		-	ENST00000389243.4	Missense_Mutation	SNP	12 : 51589917 - 51589917 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	114	17
SLC44A1	23446	broad.mit.edu	37	9	108136980	108136980	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:108136980C>T	ENST00000374720.3	+	13	1843	c.1596C>T	c.(1594-1596)atC>atT	p.I532I	SLC44A1_ENST00000343170.7_Silent_p.I324I|SLC44A1_ENST00000374723.1_Silent_p.I532I|SLC44A1_ENST00000374724.1_Silent_p.I532I	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	532						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TGGCTACCATCAACACAGTAG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	150	154			NA	NA	9		NA											NA				108136980		2203	4300	6503	SO:0001819	synonymous_variant			AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214	23446	23446		CD molecules, Solute carriers	18798	protein-coding gene	gene with protein product		606105	CDW92 antigen	CDW92	NA	11698453, 10677542	Standard	NM_080546	NM_080546	NA	Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.1596C>T	9.37:g.108136980C>T		NA	A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	37	CCDS6763.1																																																																																			SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053500.1		+	ENST00000374720.3	Silent	SNP	9 : 108136980 - 108136980 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	536	108
GRIN1	2902	broad.mit.edu	37	9	140057086	140057086	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140057086G>A	ENST00000371561.3	+	14	3005	c.1908G>A	c.(1906-1908)tgG>tgA	p.W636*	GRIN1_ENST00000315048.3_Nonsense_Mutation_p.W636*|GRIN1_ENST00000371555.4_Nonsense_Mutation_p.W657*|GRIN1_ENST00000371550.4_Nonsense_Mutation_p.W636*|GRIN1_ENST00000371559.4_Nonsense_Mutation_p.W636*|GRIN1_ENST00000371546.4_Nonsense_Mutation_p.W657*|GRIN1_ENST00000371553.3_Nonsense_Mutation_p.W657*|GRIN1_ENST00000350902.5_Nonsense_Mutation_p.W636*|GRIN1_ENST00000371560.3_Nonsense_Mutation_p.W657*|GRIN1_ENST00000471122.1_3'UTR	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	636					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GCATGGTGTGGGCCGGCTTTG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(113;717 1653 2089 20474 37618)							NA				0													21	25	24			NA	NA	9		NA											NA				140057086		2199	4293	6492	SO:0001587	stop_gained				CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884	2902	2902		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4584	protein-coding gene	gene with protein product		138249	N-methyl-D-aspartate receptor subunit NR1	NMDAR1	NA	1350383	Standard	NM_007327	NM_000832	NA	Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.1908G>A	9.37:g.140057086G>A	ENSP00000360616:p.Trp636*	NA	A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF6|Q5VSF7|Q5VSF8	37	CCDS7031.1	.	.	.	.	.	.	.	.	.	.	g	40	8.208381	0.98706	.	.	ENSG00000176884	ENST00000371561;ENST00000315048;ENST00000350902;ENST00000371550;ENST00000371546;ENST00000371555;ENST00000371553;ENST00000371559;ENST00000371560	.	.	.	4.54	4.54	0.55810	.	0.185434	0.51477	D	0.000100	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8918	0.79305	0.0:0.0:1.0:0.0	.	.	.	.	X	636;636;636;636;657;657;657;636;657	.	ENSP00000316696:W636X	W	+	3	0	GRIN1	139176907	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.543000	0.82106	2.093000	0.63338	0.450000	0.29827	TGG	GRIN1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055267.3		+	ENST00000371561.3	Nonsense_Mutation	SNP	9 : 140057086 - 140057086 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	143	22
ENTPD4	9583	broad.mit.edu	37	8	23305394	23305394	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23305394G>T	ENST00000358689.4	-	4	446	c.211C>A	c.(211-213)Ctg>Atg	p.L71M	ENTPD4_ENST00000356206.6_Missense_Mutation_p.L71M|ENTPD4_ENST00000417069.2_Missense_Mutation_p.L71M	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	71					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		ACTCGTGCCAGGTACCTTGTA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	126	140			NA	NA	8		NA											NA				23305394		2203	4300	6503	SO:0001583	missense			AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217	9583	9583			14573	protein-coding gene	gene with protein product		607577	lysosomal apyrase-like 1	LYSAL1	NA	10393803, 9205841	Standard	NM_004901	NM_001128930	NA	Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.211C>A	8.37:g.23305394G>T	ENSP00000351520:p.Leu71Met	NA	D3DSS3|O15092	37	CCDS6041.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.959102	0.53400	.	.	ENSG00000197217	ENST00000356206;ENST00000358689;ENST00000417069;ENST00000518718	T;T;T	0.16457	2.34;2.35;2.36	5.81	0.734	0.18294	.	0.000000	0.85682	D	0.000000	T	0.30355	0.0762	L	0.59436	1.845	0.49213	D	0.999767	D;D;D;D	0.71674	0.997;0.992;0.998;0.997	D;D;D;D	0.74674	0.965;0.945;0.984;0.973	T	0.01205	-1.1419	10	0.38643	T	0.18	-15.7581	8.388	0.32512	0.4174:0.0:0.5826:0.0	.	71;71;71;71	B4DU21;Q8NE73;Q9Y227-2;Q9Y227	.;.;.;ENTP4_HUMAN	M	71;71;71;37	ENSP00000348536:L71M;ENSP00000351520:L71M;ENSP00000408573:L71M	ENSP00000348536:L71M	L	-	1	2	ENTPD4	23361339	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	0.772000	0.26647	0.127000	0.18452	-0.781000	0.03364	CTG	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000215142.1		-	ENST00000358689.4	Missense_Mutation	SNP	8 : 23305394 - 23305394 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	447	44
OR6B1	135946	broad.mit.edu	37	7	143701395	143701395	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143701395C>T	ENST00000408922.2	+	1	374	c.306C>T	c.(304-306)taC>taT	p.Y102Y		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TACAACTGTACTTCTTCATTG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	158	158			NA	NA	7		NA											NA				143701395		2149	4276	6425	SO:0001819	synonymous_variant				CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813	135946	135946		GPCR / Class A : Olfactory receptors	8354	protein-coding gene	gene with protein product					NA		Standard		NM_001005281	NA	Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.306C>T	7.37:g.143701395C>T		NA	A4D2G2|B9EH47|Q6IFP6|Q96R38	37	CCDS43667.1																																																																																			OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349566.1		+	ENST00000408922.2	Silent	SNP	7 : 143701395 - 143701395 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	733	132
HSD17B4	3295	broad.mit.edu	37	5	118861665	118861665	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118861665C>T	ENST00000515320.1	+	18	1652	c.1573C>T	c.(1573-1575)Cgt>Tgt	p.R525C	HSD17B4_ENST00000509514.1_Missense_Mutation_p.R281C|HSD17B4_ENST00000510025.1_Missense_Mutation_p.R519C|HSD17B4_ENST00000256216.6_Missense_Mutation_p.R543C|HSD17B4_ENST00000504811.1_Missense_Mutation_p.R568C|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000513628.1_Missense_Mutation_p.R406C|HSD17B4_ENST00000414835.2_Missense_Mutation_p.R403C	NM_001199292.1	NP_001186221.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	543	Enoyl-CoA hydratase 2.|MaoC-like.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	TTCTGCCAGGCGTGTGTTACA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(35;490 801 34689 41394 43344)							NA				0													178	171	173			NA	NA	5		NA											NA				118861665		2202	4300	6502	SO:0001583	missense				CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	3295	3295	4.2.1.107, 1.1.1.35	Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3	5213	protein-coding gene	gene with protein product	17beta-estradiol dehydrogenase type IV, peroxisomal multifunctional protein 2, 17-beta-HSD IV, 17-beta-hydroxysteroid dehydrogenase 4, D-bifunctional protein, peroxisomal, D-3-hydroxyacyl-CoA dehydratase, 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase, beta-keto-reductase, beta-hydroxyacyl dehydrogenase, short chain dehydrogenase/reductase family 8C, member 1	601860			NA	8938456, 19027726	Standard	NM_000414	NM_000414	NA	Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000515320.1:c.1573C>T	5.37:g.118861665C>T	ENSP00000424613:p.Arg525Cys	NA		37	CCDS56378.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447464	0.84101	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	T;T;T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34	5.21	5.21	0.72293	MaoC-like dehydratase (1);	0.140082	0.64402	D	0.000005	T	0.79167	0.4400	N	0.10916	0.065	0.48696	D	0.999692	D;D;D;D;D	0.76494	0.999;0.959;0.994;0.994;0.977	P;P;B;P;B	0.60012	0.825;0.796;0.294;0.867;0.294	D	0.83981	0.0332	10	0.72032	D	0.01	-13.1573	17.5177	0.87779	0.0:1.0:0.0:0.0	.	568;525;519;281;543	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	C	543;525;519;568;403;406;281	ENSP00000256216:R543C;ENSP00000424613:R525C;ENSP00000424940:R519C;ENSP00000420914:R568C;ENSP00000411960:R403C;ENSP00000425993:R406C;ENSP00000426272:R281C	ENSP00000256216:R543C	R	+	1	0	HSD17B4	118889564	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	4.714000	0.61902	2.433000	0.82419	0.591000	0.81541	CGT	HSD17B4-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000371138.1		+	ENST00000515320.1	Missense_Mutation	SNP	5 : 118861665 - 118861665 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	657	99
PHLPP2	23035	broad.mit.edu	37	16	71692594	71692594	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71692594T>C	ENST00000393524.2	-	12	2642	c.1909A>G	c.(1909-1911)Agc>Ggc	p.S637G	RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000568954.1_Missense_Mutation_p.S704G|PHLPP2_ENST00000540628.1_5'UTR|PHLPP2_ENST00000356272.3_Missense_Mutation_p.S704G|PHLPP2_ENST00000360429.3_Missense_Mutation_p.S704G|PHLPP2_ENST00000567016.1_Missense_Mutation_p.S739G			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	704						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GGGAAAATGCTGATGTTGTTG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													277	244	255			NA	NA	16		NA											NA				71692594		2198	4300	6498	SO:0001583	missense			BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199	23035	23035		Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent, Pleckstrin homology (PH) domain containing	29149	protein-coding gene	gene with protein product		611066	PH domain and leucine rich repeat protein phosphatase-like	PHLPPL	NA	17386267	Standard	NM_015020	NM_001289003	NA	Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000393524.2:c.1909A>G	16.37:g.71692594T>C	ENSP00000377159:p.Ser637Gly	NA	A1L374|Q9NV17|Q9Y2E3	37		.	.	.	.	.	.	.	.	.	.	T	20.3	3.972492	0.74246	.	.	ENSG00000040199	ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524	T;T;T	0.26373	1.74;2.11;2.08	5.82	5.82	0.92795	.	0.040777	0.85682	D	0.000000	T	0.30823	0.0777	N	0.19112	0.55	0.51012	D	0.999909	D;P	0.56968	0.978;0.919	P;B	0.56343	0.796;0.35	T	0.04593	-1.0940	10	0.44086	T	0.13	-18.2593	15.3644	0.74510	0.0:0.0:0.0:1.0	.	637;704	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	G	511;704;704;637	ENSP00000353610:S704G;ENSP00000348611:S704G;ENSP00000377159:S637G	ENSP00000299971:S511G	S	-	1	0	PHLPP2	70250095	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.157000	0.64911	2.228000	0.72767	0.533000	0.62120	AGC	PHLPP2-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000434140.1		-	ENST00000393524.2	Missense_Mutation	SNP	16 : 71692594 - 71692594 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	634	126
KMT2C	58508	broad.mit.edu	37	7	151878579	151878579	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151878579T>C	ENST00000262189.6	-	36	6584	c.6366A>G	c.(6364-6366)atA>atG	p.I2122M	KMT2C_ENST00000355193.2_Missense_Mutation_p.I2122M	NM_170606.2	NP_733751.2			lysine (K)-specific methyltransferase 2C	NA											NA						TTGGCCTTGATATGGTTCCAG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	112	111			NA	NA	7		NA											NA				151878579		2203	4300	6503	SO:0001583	missense			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609	58508	58508		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	13726	protein-coding gene	gene with protein product		606833	myeloid/lymphoid or mixed-lineage leukemia 3	MLL3	NA	10819331	Standard		XM_005250026	NA	Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6366A>G	7.37:g.151878579T>C	ENSP00000262189:p.Ile2122Met	NA		37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	7.288	0.610557	0.14066	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.82984	-1.66;-1.67	5.38	0.13	0.14746	.	0.283649	0.24771	N	0.035737	T	0.64505	0.2604	N	0.25144	0.715	0.19300	N	0.999974	B;B	0.23316	0.083;0.032	B;B	0.14023	0.01;0.008	T	0.48536	-0.9027	10	0.30854	T	0.27	.	3.8341	0.08886	0.3223:0.2846:0.0:0.393	.	2122;1183	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	M	2122	ENSP00000262189:I2122M;ENSP00000347325:I2122M	ENSP00000262189:I2122M	I	-	3	3	MLL3	151509512	0.292000	0.24362	0.896000	0.35187	0.990000	0.78478	-0.692000	0.05127	0.038000	0.15604	0.460000	0.39030	ATA	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318887.3		-	ENST00000262189.6	Missense_Mutation	SNP	7 : 151878579 - 151878579 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	408	66
DBP	1628	broad.mit.edu	37	19	49134162	49134162	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49134162C>T	ENST00000222122.5	-	4	1353	c.910G>A	c.(910-912)Gtg>Atg	p.V304M	DBP_ENST00000593500.1_Missense_Mutation_p.V102M|DBP_ENST00000599385.1_Missense_Mutation_p.V102M	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	304	Leucine-zipper.				regulation of transcription from RNA polymerase II promoter|rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		TCCTGGCGCACGGCCACAACT	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	22	21			NA	NA	19		NA											NA				49134162		2202	4300	6502	SO:0001583	missense			U06936	CCDS12728.1	19q13.33	2013-09-20			ENSG00000105516	ENSG00000105516	1628	1628			2697	protein-coding gene	gene with protein product		124097			NA	1535333, 7835883	Standard	NM_001352	XR_243907	NA	Approved	DABP	uc002pjx.4	Q10586	OTTHUMG00000183319	ENST00000222122.5:c.910G>A	19.37:g.49134162C>T	ENSP00000222122:p.Val304Met	NA	A2I2P4	37	CCDS12728.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462057	0.43736	.	.	ENSG00000105516	ENST00000222122	T	0.44083	0.93	4.28	4.28	0.50868	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.187492	0.43919	U	0.000519	T	0.28101	0.0693	N	0.16266	0.395	0.37155	D	0.902331	B	0.33739	0.422	B	0.38458	0.274	T	0.25641	-1.0126	10	0.44086	T	0.13	-14.5292	8.2508	0.31717	0.0:0.8921:0.0:0.1079	.	304	Q10586	DBP_HUMAN	M	304	ENSP00000222122:V304M	ENSP00000222122:V304M	V	-	1	0	DBP	53825974	0.002000	0.14202	0.971000	0.41717	0.865000	0.49528	-0.017000	0.12590	2.364000	0.80123	0.563000	0.77884	GTG	DBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466167.1		-	ENST00000222122.5	Missense_Mutation	SNP	19 : 49134162 - 49134162 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	96	17
JMJD1C	221037	broad.mit.edu	37	10	64937606	64937606	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64937606C>A	ENST00000399262.2	-	23	7313	c.7095G>T	c.(7093-7095)aaG>aaT	p.K2365N	JMJD1C_ENST00000402544.1_Missense_Mutation_p.K2128N|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.K2183N	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2365	JmjC.				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CCTCAAATTTCTTGAGAATTC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	87	89			NA	NA	10		NA											NA				64937606		1828	4077	5905	SO:0001583	missense			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988	221037	221037			12313	protein-coding gene	gene with protein product		604503	thyroid hormone receptor interactor 8	TRIP8	NA	7776974	Standard	NM_004241	XM_005269624	NA	Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.7095G>T	10.37:g.64937606C>A	ENSP00000382204:p.Lys2365Asn	NA	Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	37	CCDS41532.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.077728|4.077728	0.76528|0.76528	.|.	.|.	ENSG00000171988|ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000542921|ENST00000327520	T;T;T|.	0.58940|.	0.64;0.3;0.64|.	6.05|6.05	5.15|5.15	0.70609|0.70609	Transcription factor jumonji/aspartyl beta-hydroxylase (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68393|0.68393	0.2996|0.2996	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;D;B|.	0.89917|.	1.0;1.0;0.367|.	D;D;B|.	0.91635|.	0.999;0.999;0.35|.	T|T	0.66842|0.66842	-0.5821|-0.5821	10|5	0.72032|.	D|.	0.01|.	-14.9126|-14.9126	14.7894|14.7894	0.69827|0.69827	0.0:0.9308:0.0:0.0692|0.0:0.9308:0.0:0.0692	.|.	2183;2365;2183|.	B7ZLC8;Q15652;A0T124|.	.;JHD2C_HUMAN;.|.	N|I	2365;2128;2183|912	ENSP00000382204:K2365N;ENSP00000384990:K2128N;ENSP00000444682:K2183N|.	ENSP00000382204:K2365N|.	K|R	-|-	3|2	2|0	JMJD1C|JMJD1C	64607612|64607612	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	1.768000|1.768000	0.38511|0.38511	1.576000|1.576000	0.49790|0.49790	0.650000|0.650000	0.86243|0.86243	AAG|AGA	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048249.2		-	ENST00000399262.2	Missense_Mutation	SNP	10 : 64937606 - 64937606 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	152	32
MUC16	94025	broad.mit.edu	37	19	9047105	9047105	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9047105A>C	ENST00000397910.4	-	5	34729	c.34526T>G	c.(34525-34527)tTt>tGt	p.F11509C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11511	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						ACTATGGGAAAACTTGGGAGT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	146	148			NA	NA	19		NA											NA				9047105		2058	4202	6260	SO:0001583	missense			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.34526T>G	19.37:g.9047105A>C	ENSP00000381008:p.Phe11509Cys	NA	Q6ZQW5|Q96RK2	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	3.552	-0.091455	0.07053	.	.	ENSG00000181143	ENST00000397910	T	0.02197	4.4	2.48	1.45	0.22620	.	.	.	.	.	T	0.05640	0.0148	L	0.55481	1.735	.	.	.	D	0.61080	0.989	P	0.59012	0.85	T	0.25152	-1.0140	8	0.87932	D	0	.	4.1958	0.10443	0.8262:0.0:0.1738:0.0	.	11509	B5ME49	.	C	11509	ENSP00000381008:F11509C	ENSP00000381008:F11509C	F	-	2	0	MUC16	8908105	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.007000	0.12810	0.381000	0.24851	0.478000	0.44815	TTT	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Missense_Mutation	SNP	19 : 9047105 - 9047105 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	565	92
CCDC82	79780	broad.mit.edu	37	11	96092228	96092228	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:96092228C>T	ENST00000278520.5	-	8	1923	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K	CCDC82_ENST00000542662.1_Missense_Mutation_p.E499K|CCDC82_ENST00000423339.2_Missense_Mutation_p.E499K			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	499							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TGTTCATCTTCAACTTCTTCT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	176	178			NA	NA	11		NA											NA				96092228		2200	4298	6498	SO:0001583	missense			AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231	79780	79780			26282	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024725	NM_024725	NA	Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.1495G>A	11.37:g.96092228C>T	ENSP00000278520:p.Glu499Lys	NA	B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	37	CCDS8307.1	.	.	.	.	.	.	.	.	.	.	C	9.488	1.100002	0.20552	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339	T;T;T	0.24908	1.83;1.83;1.83	5.78	4.86	0.63082	.	0.181349	0.46758	N	0.000262	T	0.25419	0.0618	L	0.54323	1.7	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.13575	-1.0504	10	0.27082	T	0.32	-12.0923	13.1438	0.59450	0.0:0.8154:0.116:0.0686	.	499	Q8N4S0	CCD82_HUMAN	K	499	ENSP00000278520:E499K;ENSP00000444010:E499K;ENSP00000397156:E499K	ENSP00000278520:E499K	E	-	1	0	CCDC82	95731876	0.061000	0.20836	0.132000	0.22025	0.707000	0.40811	1.190000	0.32126	0.919000	0.36945	-0.797000	0.03246	GAA	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395542.2		-	ENST00000278520.5	Missense_Mutation	SNP	11 : 96092228 - 96092228 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	554	114
GRID2	2895	broad.mit.edu	37	4	94344105	94344105	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:94344105G>A	ENST00000282020.4	+	10	1789	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K	GRID2_ENST00000510992.1_Missense_Mutation_p.E416K	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	511					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CTTGGTAGGAGAACTTGTCTT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	100	101			NA	NA	4		NA											NA				94344105		2203	4300	6503	SO:0001583	missense			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208	2895	2895		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4576	protein-coding gene	gene with protein product		602368			NA	9465309	Standard		NM_001510	NA	Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1531G>A	4.37:g.94344105G>A	ENSP00000282020:p.Glu511Lys	NA	Q4KKU9|Q4KKV0|Q59FZ1	37	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	33	5.286897	0.95517	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.27256	1.68;1.68	5.55	5.55	0.83447	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.52613	0.1745	M	0.65975	2.015	0.80722	D	1	D;D	0.76494	0.992;0.999	D;D	0.87578	0.994;0.998	T	0.53373	-0.8448	10	0.87932	D	0	.	19.4969	0.95077	0.0:0.0:1.0:0.0	.	416;511	E9PH24;O43424	.;GRID2_HUMAN	K	511;416	ENSP00000282020:E511K;ENSP00000421257:E416K	ENSP00000282020:E511K	E	+	1	0	GRID2	94563128	1.000000	0.71417	0.988000	0.46212	0.946000	0.59487	9.864000	0.99589	2.611000	0.88343	0.650000	0.86243	GAA	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253588.2		+	ENST00000282020.4	Missense_Mutation	SNP	4 : 94344105 - 94344105 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	293	58
STRN4	29888	broad.mit.edu	37	19	47232005	47232005	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47232005C>T	ENST00000391910.3	-	7	1359	c.909G>A	c.(907-909)atG>atA	p.M303I	CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000539396.1_Missense_Mutation_p.M184I|STRN4_ENST00000263280.6_Missense_Mutation_p.M303I			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	303						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CCTCGTCTTCCATTTCGGGCA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	90	91			NA	NA	19		NA											NA				47232005		2203	4300	6503	SO:0001583	missense			AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372	29888	29888		WD repeat domain containing	15721	protein-coding gene	gene with protein product		614767			NA	10748158	Standard		XM_006723171	NA	Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000391910.3:c.909G>A	19.37:g.47232005C>T	ENSP00000375777:p.Met303Ile	NA	Q8NE53	37	CCDS42581.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.507207	0.44558	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396;ENST00000435164	T;T;T	0.63096	-0.02;-0.02;0.1	4.64	2.47	0.30058	.	0.375150	0.27936	N	0.017251	T	0.32556	0.0833	N	0.02539	-0.55	0.35125	D	0.76744	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.20207	-1.0282	10	0.37606	T	0.19	-11.0569	8.5626	0.33520	0.0:0.8136:0.0:0.1864	.	303;303	F8VYA6;Q9NRL3	.;STRN4_HUMAN	I	303;303;184;184	ENSP00000375777:M303I;ENSP00000263280:M303I;ENSP00000440901:M184I	ENSP00000263280:M303I	M	-	3	0	STRN4	51923845	1.000000	0.71417	0.974000	0.42286	0.835000	0.47333	1.872000	0.39549	0.561000	0.29186	0.561000	0.74099	ATG	STRN4-002	KNOWN	NMD_exception|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466606.2		-	ENST00000391910.3	Missense_Mutation	SNP	19 : 47232005 - 47232005 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	613	104
PLAT	5327	broad.mit.edu	37	8	42039493	42039493	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42039493C>T	ENST00000524009.1	-	7	681	c.584G>A	c.(583-585)cGc>cAc	p.R195H	PLAT_ENST00000352041.3_Missense_Mutation_p.R238H|PLAT_ENST00000429089.2_Missense_Mutation_p.R284H|PLAT_ENST00000429710.2_Missense_Mutation_p.R158H|PLAT_ENST00000270189.6_Intron|PLAT_ENST00000220809.4_Missense_Mutation_p.R284H|PLAT_ENST00000519510.1_Missense_Mutation_p.R221H			P00750	TPA_HUMAN	plasminogen activator, tissue	284	Kringle 1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CGTCAGCCTGCGGTTCTTCAG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	80	86			NA	NA	8		NA											NA				42039493		2203	4300	6503	SO:0001583	missense				CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368	5327	5327			9051	protein-coding gene	gene with protein product		173370			NA		Standard	NM_000930	NM_033011	NA	Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000524009.1:c.584G>A	8.37:g.42039493C>T	ENSP00000429401:p.Arg195His	NA	A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	37		.	.	.	.	.	.	.	.	.	.	C	1.133	-0.651723	0.03506	.	.	ENSG00000104368	ENST00000429089;ENST00000220809;ENST00000352041;ENST00000519510;ENST00000429710;ENST00000524009	T;T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01;0.01	6.05	-0.0581	0.13798	Kringle (4);Kringle-like fold (1);	0.766331	0.13192	N	0.406602	T	0.44664	0.1304	L	0.48362	1.52	0.09310	N	1	B;B;B;B;B	0.09022	0.002;0.002;0.0;0.002;0.002	B;B;B;B;B	0.10450	0.005;0.005;0.003;0.005;0.004	T	0.25328	-1.0135	10	0.19590	T	0.45	.	1.122	0.01727	0.3109:0.3407:0.1012:0.2473	.	158;195;284;238;284	B4DNJ1;B4DN26;B8ZX62;P00750-3;P00750	.;.;.;.;TPA_HUMAN	H	284;284;238;221;158;195	ENSP00000392045:R284H;ENSP00000220809:R284H;ENSP00000270188:R238H;ENSP00000428886:R221H;ENSP00000407861:R158H;ENSP00000429401:R195H	ENSP00000220809:R284H	R	-	2	0	PLAT	42158650	0.000000	0.05858	0.016000	0.15963	0.015000	0.08874	-1.321000	0.02697	-0.307000	0.08804	-0.158000	0.13435	CGC	PLAT-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000377104.1		-	ENST00000524009.1	Missense_Mutation	SNP	8 : 42039493 - 42039493 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	228	35
SPHKAP	80309	broad.mit.edu	37	2	228881731	228881731	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228881731G>A	ENST00000392056.3	-	7	3885	c.3839C>T	c.(3838-3840)gCg>gTg	p.A1280V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A1280V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1280						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGATGAGGACGCGCTACTGAC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	82	82			NA	NA	2		NA											NA				228881731		2203	4300	6503	SO:0001583	missense				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820	80309	80309		A-kinase anchor proteins	30619	protein-coding gene	gene with protein product	sphingosine kinase type 1-interacting protein	611646			NA	12080051, 11214970	Standard	NM_030623	NM_030623	NA	Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3839C>T	2.37:g.228881731G>A	ENSP00000375909:p.Ala1280Val	NA	Q68DA3|Q68DR8|Q9C0I5	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.597112	0.00857	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.42900	0.96;0.96	6.08	3.98	0.46160	.	0.362355	0.31381	N	0.007752	T	0.25232	0.0613	L	0.33137	0.985	0.09310	N	0.999992	B;B;B	0.17465	0.007;0.014;0.022	B;B;B	0.11329	0.002;0.001;0.006	T	0.12319	-1.0552	10	0.15499	T	0.54	.	4.4234	0.11492	0.4415:0.0:0.5585:0.0	.	311;1280;1280	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	V	1280	ENSP00000375909:A1280V;ENSP00000339886:A1280V	ENSP00000339886:A1280V	A	-	2	0	SPHKAP	228589975	0.002000	0.14202	0.045000	0.18777	0.002000	0.02628	1.742000	0.38248	1.503000	0.48686	0.655000	0.94253	GCG	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331750.1		-	ENST00000392056.3	Missense_Mutation	SNP	2 : 228881731 - 228881731 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	479	40
TPI1	7167	broad.mit.edu	37	12	6976836	6976836	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6976836G>A	ENST00000229270.4	+	1	554	c.217G>A	c.(217-219)Gcc>Acc	p.A73T	TPI1_ENST00000396705.5_Missense_Mutation_p.A36T	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	36			G -> A (in TPI deficiency).		fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						CAAGGTGCCGGCCGACACCGG	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	14	14			NA	NA	12		NA											NA				6976836		2186	4279	6465	SO:0001583	missense				CCDS8566.1, CCDS53740.1, CCDS58206.1	12p13.31	2012-10-02			ENSG00000111669	ENSG00000111669	7167	7167	5.3.1.1		12009	protein-coding gene	gene with protein product		190450			NA		Standard	NM_000365	NM_000365	NA	Approved		uc001qrk.4	P60174	OTTHUMG00000133767	ENST00000229270.4:c.217G>A	12.37:g.6976836G>A	ENSP00000229270:p.Ala73Thr	NA	P00938|Q6FHP9|Q6IS07|Q8WWD0|Q96AG5	37	CCDS53740.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878122	0.51801	.	.	ENSG00000111669	ENST00000229270;ENST00000396705	D;D	0.93953	-3.32;-3.32	5.18	4.28	0.50868	Aldolase-type TIM barrel (1);	0.146358	0.45361	U	0.000372	D	0.89427	0.6712	L	0.39397	1.21	0.80722	D	1	B	0.16166	0.016	B	0.15484	0.013	D	0.84739	0.0750	10	0.27082	T	0.32	.	14.7388	0.69437	0.0:0.0:0.8539:0.1461	.	73	P60174	TPIS_HUMAN	T	73;36	ENSP00000229270:A73T;ENSP00000379933:A36T	ENSP00000229270:A73T	A	+	1	0	TPI1	6847097	0.941000	0.31946	0.994000	0.49952	0.592000	0.36648	1.613000	0.36900	1.156000	0.42514	-0.357000	0.07601	GCC	TPI1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258252.1		+	ENST00000229270.4	Missense_Mutation	SNP	12 : 6976836 - 6976836 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	164	36
FBXW9	84261	broad.mit.edu	37	19	12800936	12800936	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12800936A>T	ENST00000587955.1	-	6	931	c.932T>A	c.(931-933)aTc>aAc	p.I311N	FBXW9_ENST00000393261.3_Intron|FBXW9_ENST00000544494.1_Intron|FBXW9_ENST00000380339.3_Missense_Mutation_p.I321N			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	321							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						TTCATGGGTGATGGGCCGGTG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	79	76			NA	NA	19		NA											NA				12800936		2202	4300	6502	SO:0001583	missense			BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004	84261	84261		F-boxes / WD-40 domains, WD repeat domain containing	28136	protein-coding gene	gene with protein product		609074	F-box and WD-40 domain protein 9		NA	12477932	Standard	NM_032301	NM_032301	NA	Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000587955.1:c.932T>A	19.37:g.12800936A>T	ENSP00000465387:p.Ile311Asn	NA	B3KVP7|Q9BT89	37	CCDS12278.2	.	.	.	.	.	.	.	.	.	.	A	10.55	1.380447	0.24944	.	.	ENSG00000132004	ENST00000380339	T	0.48522	0.81	3.58	0.0602	0.14335	.	3.720110	0.01781	U	0.031735	T	0.31199	0.0789	.	.	.	0.09310	N	1	B	0.32160	0.358	B	0.29440	0.102	T	0.13124	-1.0521	8	.	.	.	.	5.5629	0.17154	0.5412:0.0:0.4588:0.0	.	311	Q5XUX1-2	.	N	321	ENSP00000369696:I321N	.	I	-	2	0	FBXW9	12661936	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.229000	0.17833	0.071000	0.16664	0.402000	0.26972	ATC	FBXW9-003	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450779.1		-	ENST00000587955.1	Missense_Mutation	SNP	19 : 12800936 - 12800936 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	363	71
VAV1	7409	broad.mit.edu	37	19	6836997	6836997	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6836997G>A	ENST00000596764.1	+	20	1900	c.1820G>A	c.(1819-1821)gGc>gAc	p.G607D	VAV1_ENST00000539284.1_Splice_Site_p.G542D|VAV1_ENST00000599806.1_Splice_Site_p.G584D|VAV1_ENST00000602142.1_Splice_Site_p.G639D|VAV1_ENST00000304076.2_Intron	NM_001258207.1	NP_001245136.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	639					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GGTGTTTAGGGCAGAAATACA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	160	161			NA	NA	19		NA											NA				6836997		2203	4300	6503	SO:0001630	splice_region_variant				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968	7409	7409		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing, SH2 domain containing	12657	protein-coding gene	gene with protein product		164875	vav 1 oncogene	VAV	NA	9438848	Standard		NM_005428	NA	Approved		uc010xjh.2	P15498		ENST00000596764.1:c.1819-1G>A	19.37:g.6836997G>A		NA	Q15860	37	CCDS59342.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092902	0.56075	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.58940	0.67;0.3	4.95	4.95	0.65309	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.79604	0.4474	M	0.88704	2.975	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.87578	0.967;0.987;0.998	D	0.83437	0.0041	10	0.59425	D	0.04	.	15.7303	0.77794	0.0:0.0:1.0:0.0	.	542;584;639	F5H5P4;Q96D37;P15498	.;.;VAV_HUMAN	D	639;542	ENSP00000302269:G639D;ENSP00000443242:G542D	ENSP00000302269:G639D	G	+	2	0	VAV1	6787997	1.000000	0.71417	0.999000	0.59377	0.294000	0.27393	7.495000	0.81514	2.307000	0.77673	0.478000	0.44815	GGC	VAV1-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458476.1	Missense_Mutation	+	ENST00000596764.1	Splice_Site	SNP	19 : 6836997 - 6836997 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	759	110
MYCBP2	23077	broad.mit.edu	37	13	77625140	77625140	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77625140C>T	ENST00000544440.2	-	82	13816	c.13799G>A	c.(13798-13800)tGt>tAt	p.C4600Y	MYCBP2_ENST00000357337.6_Missense_Mutation_p.C4600Y|MYCBP2_ENST00000407578.2_Missense_Mutation_p.C4638Y			O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4600					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ACCTGCAGGACAGTGTGGTAG	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	75	75			NA	NA	13		NA											NA				77625140		2203	4300	6503	SO:0001583	missense			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810	23077	23077			23386	protein-coding gene	gene with protein product		610392	MYC binding protein 2		NA	9689053, 15057823	Standard	NM_015057	NM_015057	NA	Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.13799G>A	13.37:g.77625140C>T	ENSP00000444596:p.Cys4600Tyr	NA	A6NJC6|Q5JSX8|Q5VZN6|Q6PIB6|Q9UQ11|Q9Y6E4	37		.	.	.	.	.	.	.	.	.	.	C	22.4	4.286163	0.80803	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.62105	0.05;0.05;0.05	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.83105	0.5182	M	0.89287	3.02	0.80722	D	1	D	0.57571	0.98	D	0.71656	0.974	D	0.85873	0.1417	10	0.87932	D	0	.	19.5331	0.95237	0.0:1.0:0.0:0.0	.	4600	O75592	MYCB2_HUMAN	Y	4600;4638;4600	ENSP00000349892:C4600Y;ENSP00000384288:C4638Y;ENSP00000444596:C4600Y	ENSP00000349892:C4600Y	C	-	2	0	MYCBP2	76523141	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.627000	0.88993	0.655000	0.94253	TGT	MYCBP2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000045326.1		-	ENST00000544440.2	Missense_Mutation	SNP	13 : 77625140 - 77625140 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	322	35
NFAT5	10725	broad.mit.edu	37	16	69725910	69725910	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69725910C>T	ENST00000354436.2	+	12	2446	c.2128C>T	c.(2128-2130)Cag>Tag	p.Q710*	NFAT5_ENST00000432919.1_Nonsense_Mutation_p.Q728*|NFAT5_ENST00000566899.1_Nonsense_Mutation_p.Q634*|NFAT5_ENST00000393742.2_Nonsense_Mutation_p.Q634*|NFAT5_ENST00000567239.1_Nonsense_Mutation_p.Q727*|NFAT5_ENST00000349945.1_Nonsense_Mutation_p.Q634*	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	710					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GCAGGCTACACAGTTTCAGAC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	98	100			NA	NA	16		NA											NA				69725910		2198	4300	6498	SO:0001587	stop_gained			AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908	10725	10725		Nuclear factor of activated T-cells	7774	protein-coding gene	gene with protein product		604708			NA	10377394	Standard	NM_138714	NM_173214	NA	Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2128C>T	16.37:g.69725910C>T	ENSP00000346420:p.Gln710*	NA	A6H8V5|O95693|Q9UN18	37	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	39	7.348624	0.98228	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	.	.	.	6.08	6.08	0.98989	.	0.270197	0.42964	D	0.000628	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	0.16	20.6634	0.99662	0.0:1.0:0.0:0.0	.	.	.	.	X	728;727;634;710;634	.	ENSP00000338806:Q634X	Q	+	1	0	NFAT5	68283411	1.000000	0.71417	0.998000	0.56505	0.663000	0.39108	3.648000	0.54410	2.894000	0.99253	0.655000	0.94253	CAG	NFAT5-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268952.2		+	ENST00000354436.2	Nonsense_Mutation	SNP	16 : 69725910 - 69725910 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	412	79
SWT1	54823	broad.mit.edu	37	1	185153444	185153444	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:185153444T>C	ENST00000367500.4	+	8	1373	c.1208T>C	c.(1207-1209)tTt>tCt	p.F403S	SWT1_ENST00000367501.3_Missense_Mutation_p.F403S	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	403	PINc.									breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						CATCTCAAATTTGTTAGAATT	0.269		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	48	47			NA	NA	1		NA											NA				185153444		2189	4278	6467	SO:0001583	missense			AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668	54823	54823			16785	protein-coding gene	gene with protein product			chromosome 1 open reading frame 26	C1orf26	NA	11318611, 19127978, 23768067	Standard	NM_017673	NM_017673	NA	Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.1208T>C	1.37:g.185153444T>C	ENSP00000356470:p.Phe403Ser	NA	Q8NEK9|Q9BZQ7|Q9NXQ0	37	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.944107	0.73672	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.20738	2.05;2.05	5.05	5.05	0.67936	Nucleotide binding protein, PINc (1);	0.059804	0.64402	D	0.000002	T	0.41119	0.1145	L	0.56199	1.76	0.52099	D	0.999947	D	0.89917	1.0	D	0.91635	0.999	T	0.18935	-1.0321	10	0.52906	T	0.07	.	13.6594	0.62357	0.0:0.0:0.0:1.0	.	403	Q5T5J6	SWT1_HUMAN	S	403	ENSP00000356471:F403S;ENSP00000356470:F403S	ENSP00000356470:F403S	F	+	2	0	SWT1	183420067	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.118000	0.64673	1.999000	0.58509	0.528000	0.53228	TTT	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085790.1		+	ENST00000367500.4	Missense_Mutation	SNP	1 : 185153444 - 185153444 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	174	56
STX4	6810	broad.mit.edu	37	16	31051083	31051083	+	Missense_Mutation	SNP	G	G	A	rs149552887		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31051083G>A	ENST00000394998.1	+	11	1190	c.847G>A	c.(847-849)Gtc>Atc	p.V283I	STX4_ENST00000493902.1_3'UTR|STX4_ENST00000313843.3_Missense_Mutation_p.V285I	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN	syntaxin 4	285	Interaction with CENPF (By similarity).				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						CATCACCGTCGTCCTCCTAGC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													328	246	274			NA	NA	16		NA											NA				31051083		2197	4300	6497	SO:0001583	missense			AF026007	CCDS10700.1, CCDS61916.1	16p11.2	2008-02-05	2006-04-25	2006-04-25	ENSG00000103496	ENSG00000103496	6810	6810			11439	protein-coding gene	gene with protein product		186591	syntaxin 4A (placental)	STX4A	NA	8206394, 16339081	Standard	NM_004604	NM_001272095	NA	Approved	p35-2	uc002eak.4	Q12846	OTTHUMG00000132404	ENST00000394998.1:c.847G>A	16.37:g.31051083G>A	ENSP00000378447:p.Val283Ile	NA	Q15525|Q6FHE8	37		.	.	.	.	.	.	.	.	.	.	G	0.167	-1.075803	0.01903	.	.	ENSG00000103496	ENST00000394998;ENST00000313843	T;T	0.34667	1.35;1.55	6.08	1.95	0.26073	.	0.454422	0.23652	N	0.045909	T	0.14442	0.0349	N	0.03281	-0.365	0.21553	N	0.999647	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28459	-1.0043	10	0.10636	T	0.68	-4.7427	11.2572	0.49060	0.2188:0.3492:0.432:0.0	.	285;283	Q12846;A8MXY0	STX4_HUMAN;.	I	283;285	ENSP00000378447:V283I;ENSP00000317714:V285I	ENSP00000317714:V285I	V	+	1	0	STX4	30958584	0.998000	0.40836	0.707000	0.30419	0.044000	0.14063	0.405000	0.21015	0.153000	0.19213	-0.882000	0.02950	GTC	STX4-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000438720.3		+	ENST00000394998.1	Missense_Mutation	SNP	16 : 31051083 - 31051083 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1039	242
EEPD1	80820	broad.mit.edu	37	7	36324351	36324351	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36324351C>T	ENST00000242108.4	+	5	1816	c.1098C>T	c.(1096-1098)gaC>gaT	p.D366D	EEPD1_ENST00000534978.1_Silent_p.D366D	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	366					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						AGCTGAGAGACGCGGGTTCAC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	78	75			NA	NA	7		NA											NA				36324351		2203	4300	6503	SO:0001819	synonymous_variant			AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547	80820	80820			22223	protein-coding gene	gene with protein product					NA		Standard	NM_030636	NM_030636	NA	Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.1098C>T	7.37:g.36324351C>T		NA	Q96K64|Q9C0F7	37	CCDS34619.1																																																																																			EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337602.1		+	ENST00000242108.4	Silent	SNP	7 : 36324351 - 36324351 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	896	175
TECTB	6975	broad.mit.edu	37	10	114057903	114057903	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114057903C>T	ENST00000369422.3	+	7	748	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	250	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		CAATGCTTTCCGGTTCCAGAA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	119	123			NA	NA	10		NA											NA				114057903		2203	4300	6503	SO:0001583	missense			AF312827	CCDS7571.1	10q25-q26	2005-06-09			ENSG00000119913	ENSG00000119913	6975	6975			11721	protein-coding gene	gene with protein product		602653			NA	9079715	Standard	NM_058222	NM_058222	NA	Approved		uc001kzr.1	Q96PL2	OTTHUMG00000019056	ENST00000369422.3:c.748C>T	10.37:g.114057903C>T	ENSP00000358430:p.Arg250Trp	NA	Q5VW53	37	CCDS7571.1	.	.	.	.	.	.	.	.	.	.	C	32	5.191743	0.94923	.	.	ENSG00000119913	ENST00000369422	D	0.84370	-1.84	6.03	6.03	0.97812	Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.93207	0.7836	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92939	0.6370	10	0.72032	D	0.01	-24.7951	20.5666	0.99351	0.0:1.0:0.0:0.0	.	250	Q96PL2	TECTB_HUMAN	W	250	ENSP00000358430:R250W	ENSP00000358430:R250W	R	+	1	2	TECTB	114047893	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.575000	0.74018	2.854000	0.98071	0.655000	0.94253	CGG	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050381.1		+	ENST00000369422.3	Missense_Mutation	SNP	10 : 114057903 - 114057903 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	364	62
ZBBX	79740	broad.mit.edu	37	3	167031904	167031904	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167031904A>C	ENST00000392766.2	-	16	1615	c.1275T>G	c.(1273-1275)agT>agG	p.S425R	ZBBX_ENST00000307529.5_Splice_Site_p.S425R|ZBBX_ENST00000455345.2_Splice_Site_p.S425R|ZBBX_ENST00000392764.1_Splice_Site_p.S396R|ZBBX_ENST00000392767.2_Splice_Site_p.S425R	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	425						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GAAAAGCACAACTTTCACATG	0.279		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	75	78			NA	NA	3		NA											NA				167031904		1813	4071	5884	SO:0001630	splice_region_variant			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064	79740	79740			26245	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024687	NM_024687	NA	Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1275-1T>G	3.37:g.167031904A>C		NA	A8MV69|B3KSC1|B5MDJ6|Q9H5T8	37	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	A	5.686	0.311074	0.10789	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.15256	2.62;2.62;2.64;2.64;2.44	5.29	4.1	0.47936	.	0.565498	0.19403	N	0.115122	T	0.15478	0.0373	L	0.41824	1.3	0.30198	N	0.798877	P;B	0.39157	0.662;0.21	B;B	0.38655	0.278;0.144	T	0.06391	-1.0829	10	0.87932	D	0	.	9.318	0.37946	0.8187:0.1813:0.0:0.0	.	425;425	A8MT70-2;A8MT70	.;ZBBX_HUMAN	R	425;425;425;425;396	ENSP00000376519:S425R;ENSP00000376520:S425R;ENSP00000390232:S425R;ENSP00000305065:S425R;ENSP00000376517:S396R	ENSP00000305065:S425R	S	-	3	2	ZBBX	168514598	0.501000	0.26099	0.643000	0.29450	0.011000	0.07611	0.742000	0.26216	0.911000	0.36747	0.533000	0.62120	AGT	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257657.3	Missense_Mutation	-	ENST00000392766.2	Splice_Site	SNP	3 : 167031904 - 167031904 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	288	49
RGPD3	653489	broad.mit.edu	37	2	107041054	107041054	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:107041054G>T	ENST00000409886.3	-	20	3456	c.3369C>A	c.(3367-3369)ctC>ctA	p.L1123L	RGPD3_ENST00000304514.7_Silent_p.L1123L	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1123	RanBD1 1.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTGATCCAGAGAGGGGCTTCA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													2	2	2			NA	NA	2		NA											NA				107041054		586	1330	1916	SO:0001819	synonymous_variant				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165	653489	653489		Tetratricopeptide (TTC) repeat domain containing	32416	protein-coding gene	gene with protein product		612706			NA	15710750, 15815621	Standard	XM_929931	NM_001144013	NA	Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.3369C>A	2.37:g.107041054G>T		NA	B8ZZM4	37	CCDS46379.1																																																																																			RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329975.1		-	ENST00000409886.3	Silent	SNP	2 : 107041054 - 107041054 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1267	40
GABRE	2564	broad.mit.edu	37	X	151129810	151129810	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151129810G>A	ENST00000370325.1	-	5	644	c.591C>T	c.(589-591)ctC>ctT	p.L197L	GABRE_ENST00000393914.3_Intron|GABRE_ENST00000370328.3_Silent_p.L197L			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	197					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGCATGTGGAGTGAGCATC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	121	125			NA	NA	X		NA											NA				151129810		2203	4300	6503	SO:0001819	synonymous_variant			Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287	2564	2564		GABA receptors, Ligand-gated ion channels / GABA(A) receptors	4085	protein-coding gene	gene with protein product	GABA(A) receptor, epsilon	300093			NA	9039914, 9084408	Standard	NM_004961, NM_021990, NM_021984	NM_004961	NA	Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370325.1:c.591C>T	X.37:g.151129810G>A		NA	O15345|O15346|Q99520	37																																																																																				GABRE-002	NOVEL	non_canonical_other|basic	protein_coding	NA	protein_coding	OTTHUMT00000060904.1		-	ENST00000370325.1	Silent	SNP	X : 151129810 - 151129810 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	417	60
EIF3H	8667	broad.mit.edu	37	8	117668207	117668207	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:117668207C>T	ENST00000276682.4	-	7	1403	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	EIF3H_ENST00000521861.1_Missense_Mutation_p.E199K			O15372	EIF3H_HUMAN	eukaryotic translation initiation factor 3, subunit H	199					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					GGCACTTCTTCAAACATGTAC	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	117	118			NA	NA	8		NA											NA				117668207		2203	4300	6503	SO:0001583	missense			U54559	CCDS6319.1	8q24.11	2007-07-27	2007-07-27	2007-07-27	ENSG00000147677	ENSG00000147677	8667	8667			3273	protein-coding gene	gene with protein product		603912	eukaryotic translation initiation factor 3, subunit 3 gamma, 40kDa	EIF3S3	NA	9341143	Standard	NM_003756	NM_003756	NA	Approved	eIF3-gamma, eIF3-p40, eIF3h	uc003yoa.3	O15372	OTTHUMG00000164919	ENST00000276682.4:c.637G>A	8.37:g.117668207C>T	ENSP00000276682:p.Glu213Lys	NA		37		.	.	.	.	.	.	.	.	.	.	C	36	5.600966	0.96614	.	.	ENSG00000147677	ENST00000521861;ENST00000276682;ENST00000518949;ENST00000518995	T;T;T	0.50548	0.75;0.74;0.76	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.68063	0.2960	M	0.86097	2.795	0.80722	D	1	D;D	0.62365	0.991;0.983	P;P	0.53313	0.723;0.723	T	0.70226	-0.4930	10	0.54805	T	0.06	-24.4333	20.8598	0.99761	0.0:1.0:0.0:0.0	.	213;199	B3KS98;O15372	.;EIF3H_HUMAN	K	199;213;167;215	ENSP00000429931:E199K;ENSP00000276682:E213K;ENSP00000428669:E215K	ENSP00000276682:E213K	E	-	1	0	EIF3H	117737388	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GAA	EIF3H-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000380913.1		-	ENST00000276682.4	Missense_Mutation	SNP	8 : 117668207 - 117668207 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	485	44
CABIN1	23523	broad.mit.edu	37	22	24480696	24480696	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24480696C>T	ENST00000405822.2	+	20	3019	c.2925C>T	c.(2923-2925)agC>agT	p.S975S	CABIN1_ENST00000398319.2_Silent_p.S1025S|CABIN1_ENST00000263119.5_Silent_p.S1025S			Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1025					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CAGCCCTTAGCCTGGACAAAG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	77	81			NA	NA	22		NA											NA				24480696		2203	4300	6503	SO:0001819	synonymous_variant			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991	23523	23523			24187	protein-coding gene	gene with protein product		604251			NA	9655484, 9205841	Standard	NM_012295	NM_001199281	NA	Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000405822.2:c.2925C>T	22.37:g.24480696C>T		NA	Q9Y460	37																																																																																				CABIN1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000320162.2		+	ENST00000405822.2	Silent	SNP	22 : 24480696 - 24480696 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	413	78
STRN3	29966	broad.mit.edu	37	14	31374730	31374730	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31374730G>T	ENST00000355683.5	-	13	1886	c.1671C>A	c.(1669-1671)ggC>ggA	p.G557G	STRN3_ENST00000357479.5_Silent_p.G641G	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	641					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		CTGGATCACAGCCTATAAAGT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	100	103			NA	NA	14		NA											NA				31374730		2203	4299	6502	SO:0001819	synonymous_variant				CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792	29966	29966		WD repeat domain containing	15720	protein-coding gene	gene with protein product	cell cycle S/G2 nuclear autoantigen	614766			NA	7864889, 10681496	Standard	NM_014574	NM_014574	NA	Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000355683.5:c.1671C>A	14.37:g.31374730G>T		NA	A2RTX7|A6NHZ7|Q9NRA5	37	CCDS9641.1																																																																																			STRN3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276609.2		-	ENST00000355683.5	Silent	SNP	14 : 31374730 - 31374730 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	66
OVGP1	5016	broad.mit.edu	37	1	111966237	111966237	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111966237G>A	ENST00000369732.3	-	5	466	c.411C>T	c.(409-411)gaC>gaT	p.D137D	OVGP1_ENST00000540696.1_Silent_p.D77D	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	137					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		AGAAGAAAAGGTCAAGACCAT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	99	103			NA	NA	1		NA											NA				111966237		2203	4300	6503	SO:0001819	synonymous_variant			U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465	5016	5016		Mucins	8524	protein-coding gene	gene with protein product	oviductin	603578	mucin 9	MUC9	NA	7819450, 9341614	Standard	NM_002557	NM_002557	NA	Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.411C>T	1.37:g.111966237G>A		NA	A0AV19|B9EGE1|Q15841	37	CCDS834.1	.	.	.	.	.	.	.	.	.	.	G	0.286	-0.982861	0.02180	.	.	ENSG00000085465	ENST00000434331	.	.	.	4.54	1.62	0.23740	.	.	.	.	.	T	0.48223	0.1488	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49322	-0.8952	5	0.52906	T	0.07	-34.5513	8.1245	0.30990	0.3582:0.0:0.6418:0.0	.	.	.	.	I	7	.	ENSP00000397065:T7I	T	-	2	0	OVGP1	111767760	1.000000	0.71417	0.996000	0.52242	0.049000	0.14656	0.627000	0.24506	0.256000	0.21614	-1.094000	0.02160	ACC	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032461.1		-	ENST00000369732.3	Silent	SNP	1 : 111966237 - 111966237 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	55
DNAAF3	352909	broad.mit.edu	37	19	55672787	55672787	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55672787C>T	ENST00000527223.2	-	7	869		c.e7-1		DNAAF3_ENST00000524407.2_Splice_Site|DNAAF3_ENST00000391720.4_Splice_Site|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000455045.1_Splice_Site	NM_001256714.1	NP_001243643	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	NA											NA						TGACTTGAGCCTGGGGTGGGG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	16	14			NA	NA	19		NA											NA				55672787		1877	4045	5922	SO:0001630	splice_region_variant			AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646	352909	352909			30492	protein-coding gene	gene with protein product		614566	chromosome 19 open reading frame 51, ciliary dyskinesia, primary 2	C19orf51, CILD2	NA	22387996	Standard	NM_178837	NM_001256714	NA	Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000527223.2:c.868-1G>A	19.37:g.55672787C>T		NA	A8MUY0|Q6P4F6|Q8N9W0|Q96AR2	37	CCDS58680.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.874690	0.33069	.	.	ENSG00000167646	ENST00000301249;ENST00000455045;ENST00000391720	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9309	0.70914	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C19orf51	60364599	1.000000	0.71417	0.931000	0.37212	0.201000	0.24016	3.913000	0.56394	2.324000	0.78689	0.549000	0.68633	.	DNAAF3-001	KNOWN	downstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250386.4	Intron	-	ENST00000527223.2	Splice_Site	SNP	19 : 55672787 - 55672787 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	157	26
WDR96	0	broad.mit.edu	37	10	105948089	105948089	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105948089C>T	ENST00000278064.2	-	13	1744	c.1419G>A	c.(1417-1419)tcG>tcA	p.S473S	WDR96_ENST00000357060.3_Silent_p.S542S|WDR96_ENST00000428666.1_Silent_p.S543S			Q8NDM7	WDR96_HUMAN		542										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTTCTGGAAGCGAGGAAAGCA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	135	145			NA	NA	10		NA											NA				105948089		2203	4300	6503	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000278064.2:c.1419G>A	10.37:g.105948089C>T		NA	Q8N9Z8|Q8NE17|Q9H085|Q9H5W3	37																																																																																				WDR96-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000050200.1		-	ENST00000278064.2	Silent	SNP	10 : 105948089 - 105948089 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	291	57
PPP2R2A	5520	broad.mit.edu	37	8	26227791	26227791	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:26227791G>T	ENST00000380737.3	+	10	1535	c.1206G>T	c.(1204-1206)aaG>aaT	p.K402N	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.K412N	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha	NA										kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		CAAGTGGCAAGCGAAAGAAAG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	79	79			NA	NA	8		NA											NA				26227791		2203	4300	6503	SO:0001583	missense			M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	5520	5520	3.1.3.16	Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits, WD repeat domain containing	9304	protein-coding gene	gene with protein product	PP2A subunit B isoform alpha	604941	protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform, protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform		NA	1849734	Standard	NM_002717	NM_001177591	NA	Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.1206G>T	8.37:g.26227791G>T	ENSP00000370113:p.Lys402Asn	NA		37	CCDS34867.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978364	0.53720	.	.	ENSG00000221914	ENST00000380737;ENST00000524169;ENST00000315985	T;T;T	0.47528	1.46;0.84;1.45	5.25	4.37	0.52481	WD40 repeat-like-containing domain (1);	0.000000	0.85682	U	0.000000	T	0.67822	0.2934	M	0.86028	2.79	0.58432	D	0.999999	P;B;D	0.60575	0.885;0.182;0.988	B;B;D	0.65233	0.365;0.032;0.933	T	0.70988	-0.4722	10	0.59425	D	0.04	-20.1387	12.1547	0.54070	0.1307:0.0:0.8693:0.0	.	412;402;403	B4E1T7;P63151;Q6ZP32	.;2ABA_HUMAN;.	N	402;181;412	ENSP00000370113:K402N;ENSP00000430320:K181N;ENSP00000325074:K412N	ENSP00000325074:K412N	K	+	3	2	PPP2R2A	26283708	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.670000	0.37502	2.885000	0.99019	0.655000	0.94253	AAG	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375954.2		+	ENST00000380737.3	Missense_Mutation	SNP	8 : 26227791 - 26227791 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	186	12
SYNGR1	9145	broad.mit.edu	37	22	39777719	39777719	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39777719G>T	ENST00000328933.5	+	4	517	c.502G>T	c.(502-504)Gcc>Tcc	p.A168S		NM_004711.4	NP_004702.2			synaptogyrin 1	NA										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					GGCTGTGCTGGCCTTCCAGCG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	39	38			NA	NA	22		NA											NA				39777719		2203	4300	6503	SO:0001583	missense			AJ002303	CCDS13989.1, CCDS13990.1, CCDS13991.1	22q13	2008-06-10			ENSG00000100321	ENSG00000100321	9145	9145			11498	protein-coding gene	gene with protein product		603925			NA	9760194, 10595519	Standard	NM_004711	NM_004711	NA	Approved			O43759	OTTHUMG00000030978	ENST00000328933.5:c.502G>T	22.37:g.39777719G>T	ENSP00000332287:p.Ala168Ser	NA		37	CCDS13989.1	.	.	.	.	.	.	.	.	.	.	.	18.96	3.733179	0.69189	.	.	ENSG00000100321	ENST00000328933	T	0.72282	-0.64	4.52	4.52	0.55395	Marvel (1);	0.159554	0.53938	D	0.000052	T	0.68137	0.2968	M	0.66378	2.025	0.80722	D	1	B	0.34200	0.441	B	0.28553	0.091	T	0.71820	-0.4477	10	0.46703	T	0.11	.	17.4528	0.87597	0.0:0.0:1.0:0.0	.	168	O43759	SNG1_HUMAN	S	168	ENSP00000332287:A168S	ENSP00000332287:A168S	A	+	1	0	SYNGR1	38107665	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.249000	0.95470	2.341000	0.79615	0.462000	0.41574	GCC	SYNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075866.2		+	ENST00000328933.5	Missense_Mutation	SNP	22 : 39777719 - 39777719 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	462	90
DNAH10	196385	broad.mit.edu	37	12	124359997	124359997	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124359997C>A	ENST00000409039.3	+	46	7829	c.7804C>A	c.(7804-7806)Ctg>Atg	p.L2602M		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2602	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGAGGAGTCTCTGCATTTAAT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	122	125			NA	NA	12		NA											NA				124359997		1883	4113	5996	SO:0001583	missense			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653	196385	196385		Axonemal dyneins	2941	protein-coding gene	gene with protein product		605884	dynein, axonemal, heavy polypeptide 10		NA		Standard		NM_207437	NA	Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.7804C>A	12.37:g.124359997C>A	ENSP00000386770:p.Leu2602Met	NA	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516031	0.64634	.	.	ENSG00000197653	ENST00000409039	T	0.52754	0.65	5.41	-5.07	0.02938	.	0.000000	0.56097	U	0.000029	T	0.63438	0.2511	M	0.71036	2.16	0.40633	D	0.981872	D	0.89917	1.0	D	0.87578	0.998	T	0.67325	-0.5699	10	0.29301	T	0.29	.	20.508	0.99210	0.0:0.8064:0.0:0.1936	.	2602	Q8IVF4	DYH10_HUMAN	M	2602	ENSP00000386770:L2602M	ENSP00000386770:L2602M	L	+	1	2	DNAH10	122925950	0.003000	0.15002	0.361000	0.25849	0.946000	0.59487	0.056000	0.14256	-1.066000	0.03164	-0.484000	0.04775	CTG	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335420.3		+	ENST00000409039.3	Missense_Mutation	SNP	12 : 124359997 - 124359997 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	384	75
AAAS	8086	broad.mit.edu	37	12	53708104	53708104	+	Missense_Mutation	SNP	C	C	T	rs141013947		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53708104C>T	ENST00000209873.4	-	7	832	c.667G>A	c.(667-669)Gac>Aac	p.D223N	AAAS_ENST00000549983.1_5'UTR|AAAS_ENST00000550286.1_Missense_Mutation_p.D99N|AAAS_ENST00000394384.3_Missense_Mutation_p.D190N	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	223					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						GAGGTAGGGTCCAGGGTCCAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	139	142			NA	NA	12		NA											NA				53708104		2203	4300	6503	SO:0001583	missense			AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914	8086	8086		WD repeat domain containing	13666	protein-coding gene	gene with protein product	aladin, Allgrove, triple-A	605378	achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)		NA	11062474	Standard		NM_015665	NA	Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.667G>A	12.37:g.53708104C>T	ENSP00000209873:p.Asp223Asn	NA	Q9NWI6|Q9UG19	37	CCDS8856.1	.	.	.	.	.	.	.	.	.	.	C	33	5.267049	0.95399	.	.	ENSG00000094914	ENST00000209873;ENST00000394384;ENST00000550286;ENST00000547757	D;D;D;T	0.96073	-3.9;-3.89;-3.9;-0.01	5.16	5.16	0.70880	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.97139	0.9065	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.96428	0.9317	10	0.44086	T	0.13	-24.581	16.5538	0.84479	0.0:1.0:0.0:0.0	.	190;223	Q5JB47;Q9NRG9	.;AAAS_HUMAN	N	223;190;99;190	ENSP00000209873:D223N;ENSP00000377908:D190N;ENSP00000446885:D99N;ENSP00000448020:D190N	ENSP00000209873:D223N	D	-	1	0	AAAS	51994371	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.094000	0.76944	2.859000	0.98148	0.591000	0.81541	GAC	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405632.1		-	ENST00000209873.4	Missense_Mutation	SNP	12 : 53708104 - 53708104 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	833	122
SLC10A6	345274	broad.mit.edu	37	4	87752952	87752952	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:87752952A>C	ENST00000273905.6	-	3	725	c.578T>G	c.(577-579)aTt>aGt	p.I193S	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	193						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		CACCTTGAGAATGATTTTGGA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	98	108			NA	NA	4		NA											NA				87752952		2203	4300	6503	SO:0001583	missense			AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283	345274	345274		Solute carriers	30603	protein-coding gene	gene with protein product		613366			NA	15020217, 17491011	Standard	NM_197965	NM_197965	NA	Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.578T>G	4.37:g.87752952A>C	ENSP00000273905:p.Ile193Ser	NA	Q70EX7	37	CCDS3614.1	.	.	.	.	.	.	.	.	.	.	A	17.51	3.406940	0.62399	.	.	ENSG00000145283	ENST00000273905	T	0.11821	2.74	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000008	T	0.35799	0.0944	M	0.75264	2.295	0.36869	D	0.888834	D	0.89917	1.0	D	0.85130	0.997	T	0.43845	-0.9366	10	0.87932	D	0	-18.9054	11.2388	0.48958	1.0:0.0:0.0:0.0	.	193	Q3KNW5	SOAT_HUMAN	S	193	ENSP00000273905:I193S	ENSP00000273905:I193S	I	-	2	0	SLC10A6	87971976	1.000000	0.71417	0.994000	0.49952	0.845000	0.48019	6.311000	0.72835	1.958000	0.56883	0.533000	0.62120	ATT	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253043.2		-	ENST00000273905.6	Missense_Mutation	SNP	4 : 87752952 - 87752952 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	132	22
CCDC74A	90557	broad.mit.edu	37	2	132290277	132290277	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132290277C>T	ENST00000295171.6	+	5	937	c.799C>T	c.(799-801)Cga>Tga	p.R267*	CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Nonsense_Mutation_p.R201*	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	267										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CCTTCCCCTGCGAAAGCCCAC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	81	80			NA	NA	2		NA											NA				132290277		2203	4300	6503	SO:0001587	stop_gained				CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040	90557	90557			25197	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_138770	NM_138770	NA	Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.799C>T	2.37:g.132290277C>T	ENSP00000295171:p.Arg267*	NA	Q6P4I5	37	CCDS2167.1	.	.	.	.	.	.	.	.	.	.	.	16.06	3.014665	0.54468	.	.	ENSG00000163040	ENST00000295171;ENST00000409856	.	.	.	2.66	2.66	0.31614	.	0.235784	0.21781	U	0.069216	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0698	0.36486	0.0:1.0:0.0:0.0	.	.	.	.	X	267;201	.	ENSP00000295171:R267X	R	+	1	2	CCDC74A	132006747	1.000000	0.71417	0.995000	0.50966	0.059000	0.15707	2.382000	0.44345	1.192000	0.43071	0.194000	0.17425	CGA	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254570.2		+	ENST00000295171.6	Nonsense_Mutation	SNP	2 : 132290277 - 132290277 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	979	77
CDC20B	166979	broad.mit.edu	37	5	54442668	54442668	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54442668T>C	ENST00000296733.1	-	3	317	c.143A>G	c.(142-144)aAt>aGt	p.N48S	CDC20B_ENST00000322374.6_Missense_Mutation_p.N48S|CDC20B_ENST00000334206.5_Missense_Mutation_p.N48S|CDC20B_ENST00000331730.3_Missense_Mutation_p.N27S|CDC20B_ENST00000381375.2_Missense_Mutation_p.N48S	NM_001170402.1|NM_152623.2	NP_001163873.1|NP_689836.2	Q86Y33	CD20B_HUMAN	cell division cycle 20B	48										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			ATACGTAGCATTAACTGAATC	0.428		NA									OREG0016610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	66	67			NA	NA	5		NA											NA				54442668		2203	4300	6503	SO:0001583	missense			AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287	166979	166979		WD repeat domain containing	24222	protein-coding gene	gene with protein product			CDC20 cell division cycle 20 homolog B (S. cerevisiae), cell division cycle 20 homolog B (S. cerevisiae)		NA		Standard	NM_152623	NM_152623	NA	Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000296733.1:c.143A>G	5.37:g.54442668T>C	ENSP00000296733:p.Asn48Ser	1000	B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	37	CCDS3966.1	.	.	.	.	.	.	.	.	.	.	T	4.960	0.178261	0.09443	.	.	ENSG00000164287	ENST00000334206;ENST00000296733;ENST00000381375;ENST00000322374;ENST00000331730	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;2.31	4.79	0.18	0.15068	.	0.978663	0.08339	N	0.961176	T	0.14614	0.0353	N	0.15975	0.35	0.09310	N	1	B;B;B;B	0.09022	0.002;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.0	T	0.34453	-0.9828	10	0.10902	T	0.67	-9.7405	5.6196	0.17450	0.0:0.2196:0.4748:0.3055	.	48;48;48;48	Q86Y33-4;Q86Y33-3;Q86Y33;Q86Y33-2	.;.;CD20B_HUMAN;.	S	48;48;48;48;27	ENSP00000335664:N48S;ENSP00000296733:N48S;ENSP00000370781:N48S;ENSP00000315720:N48S;ENSP00000330566:N27S	ENSP00000296733:N48S	N	-	2	0	CDC20B	54478425	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.066000	0.14489	0.137000	0.18759	-0.280000	0.10049	AAT	CDC20B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253908.2		-	ENST00000296733.1	Missense_Mutation	SNP	5 : 54442668 - 54442668 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	255	46
RB1	5925	broad.mit.edu	37	13	48955427	48955427	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:48955427C>A	ENST00000267163.4	+	17	1681	c.1543C>A	c.(1543-1545)Cca>Aca	p.P515T		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	515	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTTGTCTTTCCCATGGATTCT	0.303		6	D, Mis, N, F, S		retinoblastoma, sarcoma, breast, small cell lung	retinoblastoma, sarcoma, breast, small cell lung			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		L, E, M, O	23	Whole gene deletion(15)|Unknown(8)	bone(11)|breast(5)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)											47	46	46			NA	NA	13		NA											NA				48955427		2202	4300	6502	SO:0001583	missense	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687	5925	5925		Endogenous ligands	9884	protein-coding gene	gene with protein product	prepro-retinoblastoma-associated protein, protein phosphatase 1, regulatory subunit 130	614041	osteosarcoma	OSRC	NA	1857421, 15057823	Standard		NM_000321	NA	Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1543C>A	13.37:g.48955427C>A	ENSP00000267163:p.Pro515Thr	NA	A8K5E3|P78499|Q5VW46|Q8IZL4	37	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454404	0.84209	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.96073	-3.9	5.34	5.34	0.76211	Retinoblastoma-associated protein, A-box (1);Cyclin-like (2);	0.000000	0.85682	D	0.000000	D	0.98124	0.9381	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99010	1.0814	10	0.87932	D	0	.	19.0281	0.92941	0.0:1.0:0.0:0.0	.	515	P06400	RB_HUMAN	T	494;515	ENSP00000267163:P515T	ENSP00000267163:P515T	P	+	1	0	RB1	47853428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.484000	0.81180	2.488000	0.83962	0.650000	0.86243	CCA	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044884.1		+	ENST00000267163.4	Missense_Mutation	SNP	13 : 48955427 - 48955427 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	116	20
DUS3L	56931	broad.mit.edu	37	19	5786851	5786851	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5786851G>A	ENST00000309061.7	-	9	1491	c.1395C>T	c.(1393-1395)caC>caT	p.H465H	DUS3L_ENST00000320699.8_Silent_p.H223H	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	465					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GAGAGCGGCCGTGGAGCTGGG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	22	20			NA	NA	19		NA											NA				5786851		2198	4293	6491	SO:0001819	synonymous_variant				CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994	56931	56931			26920	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_020175	NM_020175	NA	Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.1395C>T	19.37:g.5786851G>A		NA	Q96HM5|Q9BSU4|Q9H877|Q9NPR1	37	CCDS32880.1																																																																																			DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451870.2		-	ENST00000309061.7	Silent	SNP	19 : 5786851 - 5786851 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	108	20
CC2D1B	200014	broad.mit.edu	37	1	52824952	52824952	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52824952C>T	ENST00000371586.2	-	10	1234	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M	CC2D1B_ENST00000284376.3_Missense_Mutation_p.V366M|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000438831.1_De_novo_Start_InFrame	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	366										breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						GGGGCCATCACTGGCTGCACT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	43	41			NA	NA	1		NA											NA				52824952		2203	4300	6503	SO:0001583	missense			AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222	200014	200014			29386	protein-coding gene	gene with protein product					NA	11347906	Standard	NM_032449	NM_032449	NA	Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.1096G>A	1.37:g.52824952C>T	ENSP00000360642:p.Val366Met	NA	Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	37	CCDS30714.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.534462	0.45073	.	.	ENSG00000154222	ENST00000371586;ENST00000284376;ENST00000371573	T;T	0.26518	1.73;1.73	4.3	3.38	0.38709	.	0.357869	0.22207	N	0.063158	T	0.24851	0.0603	L	0.55481	1.735	0.80722	D	1	B;B	0.32968	0.392;0.392	B;B	0.34779	0.157;0.189	T	0.04708	-1.0932	10	0.45353	T	0.12	-5.1845	9.661	0.39954	0.2081:0.7919:0.0:0.0	.	152;366	Q5T0G1;Q5T0F9	.;C2D1B_HUMAN	M	366;366;280	ENSP00000360642:V366M;ENSP00000284376:V366M	ENSP00000284376:V366M	V	-	1	0	CC2D1B	52597540	0.989000	0.36119	1.000000	0.80357	0.965000	0.64279	1.850000	0.39328	1.153000	0.42468	0.650000	0.86243	GTG	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022189.1		-	ENST00000371586.2	Missense_Mutation	SNP	1 : 52824952 - 52824952 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	337	84
AP1G2	8906	broad.mit.edu	37	14	24033572	24033572	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24033572C>T	ENST00000308724.5	-	9	1702	c.947G>A	c.(946-948)cGc>cAc	p.R316H	AP1G2_ENST00000397120.3_Missense_Mutation_p.R316H|RP11-66N24.3_ENST00000555968.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	316					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		GAGTAGGAAGCGACCAAGAAT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	121	131			NA	NA	14		NA											NA				24033572		2203	4300	6503	SO:0001583	missense			AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983	8906	8906			556	protein-coding gene	gene with protein product		603534			NA	9733768, 9762922	Standard	NM_003917	XM_005268167	NA	Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.947G>A	14.37:g.24033572C>T	ENSP00000312442:p.Arg316His	NA	D3DS51|O75504	37	CCDS9602.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434074	0.83776	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000545295;ENST00000535852	T;T	0.28454	1.61;1.61	4.38	4.38	0.52667	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65801	0.2726	H	0.94886	3.595	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.76868	-0.2800	10	0.87932	D	0	-6.1322	14.4989	0.67707	0.0:1.0:0.0:0.0	.	316;171	O75843;Q86V28	AP1G2_HUMAN;.	H	316;316;85;171	ENSP00000312442:R316H;ENSP00000380309:R316H	ENSP00000312442:R316H	R	-	2	0	AP1G2	23103412	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	4.751000	0.62169	2.269000	0.75478	0.557000	0.71058	CGC	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071812.4		-	ENST00000308724.5	Missense_Mutation	SNP	14 : 24033572 - 24033572 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	412	53
ZZEF1	23140	broad.mit.edu	37	17	3912991	3912991	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3912991G>A	ENST00000381638.2	-	53	8764	c.8640C>T	c.(8638-8640)taC>taT	p.Y2880Y		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2880							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CAAACAGGCCGTACTCCATGT	0.612		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	87	72	77		8640	0.2	1	17		77	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZZEF1	NM_015113.3		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		2880/2962	3912991	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755	23140	23140		Zinc fingers, ZZ-type, EF-hand domain containing	29027	protein-coding gene	gene with protein product			zinc finger, ZZ-type with EF hand domain 1		NA	9455477	Standard	NM_015113	XM_005256560	NA	Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.8640C>T	17.37:g.3912991G>A		NA	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	37	CCDS11043.1																																																																																			ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207480.1		-	ENST00000381638.2	Silent	SNP	17 : 3912991 - 3912991 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	244	53
KCNH3	23416	broad.mit.edu	37	12	49948160	49948160	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49948160G>T	ENST00000257981.6	+	11	2219	c.1959G>T	c.(1957-1959)gaG>gaT	p.E653D		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	653					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CCCGGCGGGAGCAGGTGGTAA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	78	76			NA	NA	12		NA											NA				49948160		2203	4300	6503	SO:0001583	missense			AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519	23416	23416		Potassium channels, Voltage-gated ion channels / Potassium channels	6252	protein-coding gene	gene with protein product		604527			NA	10455180, 16382104	Standard	NM_012284	NM_012284	NA	Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.1959G>T	12.37:g.49948160G>T	ENSP00000257981:p.Glu653Asp	NA	Q9UQ06	37	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	G	7.062	0.566553	0.13560	.	.	ENSG00000135519	ENST00000257981	D	0.96427	-4.01	4.81	1.93	0.25924	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.47455	D	0.000228	D	0.82536	0.5058	N	0.01751	-0.74	0.33808	D	0.627452	B	0.02656	0.0	B	0.04013	0.001	T	0.76503	-0.2935	10	0.02654	T	1	.	3.61	0.08057	0.2804:0.0:0.5456:0.174	.	653	Q9ULD8	KCNH3_HUMAN	D	653	ENSP00000257981:E653D	ENSP00000257981:E653D	E	+	3	2	KCNH3	48234427	0.895000	0.30542	0.999000	0.59377	0.992000	0.81027	-0.060000	0.11712	0.697000	0.31718	0.563000	0.77884	GAG	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404571.2		+	ENST00000257981.6	Missense_Mutation	SNP	12 : 49948160 - 49948160 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	953	177
HNF4G	3174	broad.mit.edu	37	8	76465367	76465367	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:76465367C>A	ENST00000396423.2	+	5	674	c.550C>A	c.(550-552)Ctc>Atc	p.L184I	HNF4G_ENST00000354370.1_Missense_Mutation_p.L147I	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	147					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GAAACAGCAGCTCTTAGTCTT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	114	117			NA	NA	8		NA											NA				76465367		2203	4300	6503	SO:0001583	missense				CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749	3174	3174		Nuclear hormone receptors	5026	protein-coding gene	gene with protein product		605966			NA	8622695, 12220494	Standard	NM_004133	NM_004133	NA	Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000396423.2:c.550C>A	8.37:g.76465367C>A	ENSP00000379701:p.Leu184Ile	NA	Q7Z2V9|Q9UH81|Q9UIS6	37	CCDS6220.2	.	.	.	.	.	.	.	.	.	.	C	32	5.182110	0.94885	.	.	ENSG00000164749	ENST00000354370;ENST00000396423	D;D	0.97404	-4.37;-4.37	5.4	5.4	0.78164	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.121290	0.56097	D	0.000027	D	0.98682	0.9558	M	0.89287	3.02	0.80722	D	1	P;D	0.59357	0.883;0.985	D;D	0.75020	0.949;0.985	D	0.99035	1.0822	9	.	.	.	.	19.3716	0.94490	0.0:1.0:0.0:0.0	.	184;147	F1D8Q4;Q14541	.;HNF4G_HUMAN	I	147;184	ENSP00000346339:L147I;ENSP00000379701:L184I	.	L	+	1	0	HNF4G	76627922	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.247000	0.78257	2.805000	0.96524	0.655000	0.94253	CTC	HNF4G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313913.1		+	ENST00000396423.2	Missense_Mutation	SNP	8 : 76465367 - 76465367 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	449	79
DDX24	57062	broad.mit.edu	37	14	94545647	94545647	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94545647C>T	ENST00000555054.1	-	2	404	c.313G>A	c.(313-315)Gtc>Atc	p.V105I	DDX24_ENST00000544005.1_Intron|DDX24_ENST00000330836.5_Missense_Mutation_p.V148I			Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	148					RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GCAGTTTGGACCAGGTTTTCT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	96	95			NA	NA	14		NA											NA				94545647		2203	4300	6503	SO:0001583	missense			AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737	57062	57062		DEAD-boxes	13266	protein-coding gene	gene with protein product		606181	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24, DEAD (Asp-Glu-Ala-Asp) box polypeptide 24		NA	10936056, 18289627	Standard	NM_020414	NM_020414	NA	Approved		uc001ycj.3	Q9GZR7		ENST00000555054.1:c.313G>A	14.37:g.94545647C>T	ENSP00000452145:p.Val105Ile	NA		37		.	.	.	.	.	.	.	.	.	.	C	8.240	0.806722	0.16467	.	.	ENSG00000089737	ENST00000330836;ENST00000440370;ENST00000555054;ENST00000542247	T;T	0.03152	4.03;4.05	5.31	-3.75	0.04372	.	1.340160	0.04202	N	0.330315	T	0.01765	0.0056	N	0.08118	0	0.09310	N	1	B	0.23442	0.085	B	0.16722	0.016	T	0.44544	-0.9321	10	0.29301	T	0.29	-1.4457	1.0959	0.01673	0.1641:0.2669:0.2463:0.3226	.	148	Q9GZR7	DDX24_HUMAN	I	148;148;105;105	ENSP00000328690:V148I;ENSP00000452145:V105I	ENSP00000328690:V148I	V	-	1	0	DDX24	93615400	0.000000	0.05858	0.000000	0.03702	0.371000	0.29859	-0.267000	0.08619	-0.393000	0.07739	0.650000	0.86243	GTC	DDX24-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000412863.1		-	ENST00000555054.1	Missense_Mutation	SNP	14 : 94545647 - 94545647 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	717	46
FAXC	84553	broad.mit.edu	37	6	99781260	99781260	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99781260G>A	ENST00000389677.5	-	3	848	c.566C>T	c.(565-567)gCg>gTg	p.A189V	FAXC_ENST00000538471.1_Intron	NM_032511.2	NP_115900.1	Q5TGI0	CF168_HUMAN	failed axon connections homolog (Drosophila)	189											NA						CTTGGTCACCGCTCTGGAGAT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	108	110			NA	NA	6		NA											NA				99781260		2203	4300	6503	SO:0001583	missense			BC011583	CCDS34500.1	6q16.3	2012-02-07	2012-02-07	2012-02-07	ENSG00000146267	ENSG00000146267	84553	84553			20742	protein-coding gene	gene with protein product			chromosome 6 open reading frame 168	C6orf168	NA	12477932	Standard	NM_032511	NM_032511	NA	Approved	MGC2817, dJ273F20	uc003ppj.4	Q5TGI0	OTTHUMG00000015261	ENST00000389677.5:c.566C>T	6.37:g.99781260G>A	ENSP00000374328:p.Ala189Val	NA	B3KU39|Q96F61|Q96LU3|Q9BSS2	37	CCDS34500.1	.	.	.	.	.	.	.	.	.	.	G	33	5.215320	0.95104	.	.	ENSG00000146267	ENST00000389677	T	0.14391	2.51	5.65	5.65	0.86999	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.32010	0.0815	M	0.70842	2.15	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00961	-1.1499	10	0.48119	T	0.1	-6.0637	20.0965	0.97849	0.0:0.0:1.0:0.0	.	189	Q5TGI0	CF168_HUMAN	V	189	ENSP00000374328:A189V	ENSP00000374328:A189V	A	-	2	0	C6orf168	99887981	1.000000	0.71417	0.981000	0.43875	0.997000	0.91878	9.420000	0.97426	2.824000	0.97209	0.655000	0.94253	GCG	FAXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041589.4		-	ENST00000389677.5	Missense_Mutation	SNP	6 : 99781260 - 99781260 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	86
RMDN2	151393	broad.mit.edu	37	2	38202392	38202392	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:38202392G>A	ENST00000407257.1	+	4	1346	c.1199G>A	c.(1198-1200)cGt>cAt	p.R400H	RMDN2_ENST00000406384.1_Missense_Mutation_p.R222H|RMDN2_ENST00000234195.3_Missense_Mutation_p.R400H|RMDN2_ENST00000354545.2_Missense_Mutation_p.R222H|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000417700.2_Missense_Mutation_p.R77H					regulator of microtubule dynamics 2	NA											NA						CGATTTGCTCGTGCTTATGGA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	120	121			NA	NA	2		NA											NA				38202392		2203	4300	6503	SO:0001583	missense			AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841	151393	151393			26567	protein-coding gene	gene with protein product		611872	family with sequence similarity 82, member A1	FAM82A, FAM82A1	NA	12477932	Standard	NM_144713	XM_005264161	NA	Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000407257.1:c.1199G>A	2.37:g.38202392G>A	ENSP00000385049:p.Arg400His	NA		37		.	.	.	.	.	.	.	.	.	.	G	19.46	3.831327	0.71258	.	.	ENSG00000115841	ENST00000354545;ENST00000406384;ENST00000407257;ENST00000417700;ENST00000234195;ENST00000442857	T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35	4.98	4.98	0.66077	.	0.072416	0.56097	D	0.000028	T	0.72740	0.3498	M	0.80847	2.515	0.40703	D	0.982502	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.992;0.992;0.991	T	0.77046	-0.2733	10	0.72032	D	0.01	.	13.6036	0.62035	0.0:0.0:1.0:0.0	.	400;77;222;77	Q96LZ7-2;Q96LZ7-4;Q96LZ7;Q96LZ7-3	.;.;RMD2_HUMAN;.	H	222;222;400;77;400;77	ENSP00000346549:R222H;ENSP00000386004:R222H;ENSP00000385049:R400H;ENSP00000392977:R77H;ENSP00000234195:R400H;ENSP00000416367:R77H	ENSP00000234195:R400H	R	+	2	0	FAM82A1	38055896	0.995000	0.38212	0.638000	0.29380	0.956000	0.61745	5.275000	0.65575	2.576000	0.86940	0.563000	0.77884	CGT	RMDN2-005	PUTATIVE	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000325578.1		+	ENST00000407257.1	Missense_Mutation	SNP	2 : 38202392 - 38202392 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	106
UBA7	7318	broad.mit.edu	37	3	49847012	49847012	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49847012C>A	ENST00000333486.3	-	16	2209	c.2051G>T	c.(2050-2052)gGc>gTc	p.G684V		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	684					ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTGTTTGATGCCATAATGAAA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	133	131			NA	NA	3		NA											NA				49847012		2203	4300	6503	SO:0001583	missense			BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179	7318	7318		Ubiquitin-like modifier activating enzymes	12471	protein-coding gene	gene with protein product	UBA1, ubiquitin-activating enzyme E1 homolog B (yeast), UBA7, ubiquitin-activating enzyme E1	191325	ubiquitin-activating enzyme E1-like	UBE1L	NA	8327486	Standard	NM_003335	NM_003335	NA	Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.2051G>T	3.37:g.49847012C>A	ENSP00000333266:p.Gly684Val	NA	Q9BRB2	37	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.984739	0.35036	.	.	ENSG00000182179	ENST00000333486	T	0.62788	-0.0	5.92	4.0	0.46444	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.745824	0.14247	N	0.331665	T	0.52008	0.1708	L	0.50333	1.59	0.46279	D	0.998968	B	0.19706	0.038	B	0.23275	0.045	T	0.42310	-0.9459	10	0.31617	T	0.26	-2.5993	4.8671	0.13613	0.0:0.5587:0.1533:0.2879	.	684	P41226	UBA7_HUMAN	V	684	ENSP00000333266:G684V	ENSP00000333266:G684V	G	-	2	0	UBA7	49822016	0.116000	0.22171	0.522000	0.27862	0.938000	0.57974	0.364000	0.20325	0.694000	0.31654	0.655000	0.94253	GGC	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350503.1		-	ENST00000333486.3	Missense_Mutation	SNP	3 : 49847012 - 49847012 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1242	225
CERCAM	51148	broad.mit.edu	37	9	131198036	131198036	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131198036G>A	ENST00000372842.1	+	13	4550	c.1406G>A	c.(1405-1407)aGt>aAt	p.S469N	CERCAM_ENST00000372838.4_Missense_Mutation_p.S547N			Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	547					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GAGTGGCTCAGTGACACGGAG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	27	29			NA	NA	9		NA											NA				131198036		2203	4300	6503	SO:0001583	missense			AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123	51148	51148			23723	protein-coding gene	gene with protein product	glycosyltransferase 25 domain containing 3		cerebral cell adhesion molecule	CEECAM1	NA	10608765	Standard	NM_016174	NM_016174	NA	Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372842.1:c.1406G>A	9.37:g.131198036G>A	ENSP00000361933:p.Ser469Asn	NA	A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	37		.	.	.	.	.	.	.	.	.	.	G	34	5.337214	0.95758	.	.	ENSG00000167123	ENST00000372842;ENST00000372838;ENST00000413863	D;D	0.85013	-1.85;-1.93	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.93041	0.7785	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94160	0.7413	10	0.87932	D	0	-6.5656	16.9993	0.86377	0.0:0.0:1.0:0.0	.	547	Q5T4B2	GT253_HUMAN	N	469;547;500	ENSP00000361933:S469N;ENSP00000361929:S547N	ENSP00000361929:S547N	S	+	2	0	CERCAM	130237857	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	9.664000	0.98607	2.340000	0.79590	0.561000	0.74099	AGT	CERCAM-005	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000054438.1		+	ENST00000372842.1	Missense_Mutation	SNP	9 : 131198036 - 131198036 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	158	25
SH3TC2	79628	broad.mit.edu	37	5	148422323	148422323	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148422323C>T	ENST00000512049.1	-	5	508	c.442G>A	c.(442-444)Gag>Aag	p.E148K	SH3TC2_ENST00000394358.2_Missense_Mutation_p.E40K|SH3TC2_ENST00000515425.1_Missense_Mutation_p.E155K			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	155							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTGGATCTCTGTATCCTCC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	162	167			NA	NA	5		NA											NA				148422323		2203	4300	6503	SO:0001583	missense			AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247	79628	79628		Tetratricopeptide (TTC) repeat domain containing	29427	protein-coding gene	gene with protein product		608206			NA	14574644	Standard	NM_024577	NM_024577	NA	Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000512049.1:c.442G>A	5.37:g.148422323C>T	ENSP00000421860:p.Glu148Lys	NA	B3KWE5|Q14CF5|Q9H8I5	37		.	.	.	.	.	.	.	.	.	.	C	10.35	1.325966	0.24080	.	.	ENSG00000169247	ENST00000515425;ENST00000512049;ENST00000394358	T;T;T	0.76968	-1.06;-1.05;-0.72	5.12	3.19	0.36642	.	0.227351	0.36338	N	0.002644	T	0.63873	0.2548	L	0.31926	0.97	0.38647	D	0.951752	B;B;B	0.34255	0.355;0.445;0.445	B;B;B	0.28638	0.092;0.077;0.077	T	0.65319	-0.6197	10	0.33141	T	0.24	.	12.0414	0.53454	0.0:0.8348:0.0:0.1652	.	40;148;155	C9JLC3;Q14CC0;Q8TF17	.;.;S3TC2_HUMAN	K	155;148;40	ENSP00000423660:E155K;ENSP00000421860:E148K;ENSP00000377886:E40K	ENSP00000313025:E155K	E	-	1	0	SH3TC2	148402516	0.930000	0.31532	0.955000	0.39395	0.270000	0.26580	1.869000	0.39519	1.380000	0.46344	0.655000	0.94253	GAG	SH3TC2-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000373360.1		-	ENST00000512049.1	Missense_Mutation	SNP	5 : 148422323 - 148422323 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	519	45
WNK4	65266	broad.mit.edu	37	17	40939316	40939316	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40939316T>C	ENST00000246914.5	+	7	1518	c.1497T>C	c.(1495-1497)tgT>tgC	p.C499C	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	499					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GCTTGGTCTGTGAAGCCGATT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(6;201 374 4964 23855 42828)							NA				0													50	51	50			NA	NA	17		NA											NA				40939316		2203	4300	6503	SO:0001819	synonymous_variant			AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562	65266	65266			14544	protein-coding gene	gene with protein product		601844	protein kinase, lysine deficient 4	PRKWNK4	NA		Standard		NM_032387	NA	Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.1497T>C	17.37:g.40939316T>C		NA	Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	37	CCDS11439.1																																																																																			WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452389.1		+	ENST00000246914.5	Silent	SNP	17 : 40939316 - 40939316 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	299	44
DNM2	1785	broad.mit.edu	37	19	10893745	10893745	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10893745G>A	ENST00000359692.6	+	6	948	c.798G>A	c.(796-798)cgG>cgA	p.R266R	DNM2_ENST00000314646.5_Silent_p.R266R|DNM2_ENST00000355667.6_Silent_p.R266R|DNM2_ENST00000585892.1_Silent_p.R266R|DNM2_ENST00000408974.4_Silent_p.R266R|DNM2_ENST00000389253.4_Silent_p.R266R	NM_004945.3	NP_004936.2	P50570	DYN2_HUMAN	dynamin 2	266					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CGGCCTACCGGCACATGGCCG	0.592		NA	F, N, Splice, Mis, O		ETP ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		19	19p13.2	1785	dynamin 2		L	0													76	56	63			NA	NA	19		NA											NA				10893745		2203	4300	6503	SO:0001819	synonymous_variant				CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17					1785	1785		Pleckstrin homology (PH) domain containing	2974	protein-coding gene	gene with protein product	dynamin II, cytoskeletal protein	602378			NA	7590285, 9143510	Standard	NM_004945	NM_001190716	NA	Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000359692.6:c.798G>A	19.37:g.10893745G>A		NA	Q5I0Y0|Q7Z5S3|Q9UPH4	37	CCDS32907.1																																																																																			DNM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452591.1		+	ENST00000359692.6	Silent	SNP	19 : 10893745 - 10893745 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	409	68
RBMXL2	27288	broad.mit.edu	37	11	7111476	7111476	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7111476C>T	ENST00000306904.5	+	1	1312	c.1125C>T	c.(1123-1125)ggC>ggT	p.G375G		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	375	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)		TGCCCAGGGGCGGAGGCCGTC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	13	12			NA	NA	11		NA											NA				7111476		2199	4293	6492	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.1125C>T	11.37:g.7111476C>T		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 : 7111476 - 7111476 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	116	21
ING1	3621	broad.mit.edu	37	13	111366616	111366616	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111366616C>T	ENST00000333219.7	+	1	992	c.120C>T	c.(118-120)atC>atT	p.I40I	ING1_ENST00000338450.7_Intron|ING1_ENST00000375775.3_Intron	NM_001267728.1|NM_198219.2	NP_001254657.1|NP_937862.1	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	0					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TGCGGGAGATCGACGCGAAAT	0.672		NA											C	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	EXOME	NA	NA	4e-04	SNP								NA				0													64	51	55			NA	NA	13		NA											NA				111366616		2203	4300	6503	SO:0001819	synonymous_variant				CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487	3621	3621		Zinc fingers, PHD-type	6062	protein-coding gene	gene with protein product	inhibitor of growth 1, tumor suppressor ING1, growth inhibitor ING1, growth inhibitory protein ING1	601566			NA	8944021, 9186514	Standard	NM_005537	NM_198219	NA	Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000333219.7:c.120C>T	13.37:g.111366616C>T		NA	O00532|O43658|Q5T9G8|Q5T9G9|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	37	CCDS9516.1																																																																																			ING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045767.1		+	ENST00000333219.7	Silent	SNP	13 : 111366616 - 111366616 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	199	30
LAMA3	3909	broad.mit.edu	37	18	21494442	21494442	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21494442C>T	ENST00000313654.9	+	57	7639	c.7398C>T	c.(7396-7398)gaC>gaT	p.D2466D	LAMA3_ENST00000399516.3_Silent_p.D2410D|LAMA3_ENST00000269217.6_Silent_p.D857D|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.D801D	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2466	Laminin G-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCTGGGGGACCGTGAGGCTG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	84	87			NA	NA	18		NA											NA				21494442		2203	4300	6503	SO:0001819	synonymous_variant			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747	3909	3909		Laminins	6483	protein-coding gene	gene with protein product		600805	laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)	LAMNA	NA	8077230	Standard	NM_000227, NM_198129	NM_000227	NA	Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.7398C>T	18.37:g.21494442C>T		NA	Q13679|Q13680|Q6VU68|Q76E14|Q96TG0	37	CCDS42419.1																																																																																			LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254824.3		+	ENST00000313654.9	Silent	SNP	18 : 21494442 - 21494442 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	303	53
SLC35F2	54733	broad.mit.edu	37	11	107682519	107682519	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:107682519G>A	ENST00000525071.1	-	6	876	c.288C>T	c.(286-288)ggC>ggT	p.G96G	SLC35F2_ENST00000525815.1_Splice_Site_p.G96G|SLC35F2_ENST00000265836.7_5'UTR|SLC35F2_ENST00000429869.1_Splice_Site_p.G96G|SLC35F2_ENST00000375682.4_Splice_Site_p.G49G			Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	96					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		GGTTATCACTGCCTGGTTGAA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	147	151			NA	NA	11		NA											NA				107682519		1849	4091	5940	SO:0001630	splice_region_variant				CCDS41709.1	11q22.3	2013-05-22			ENSG00000110660	ENSG00000110660	54733	54733		Solute carriers	23615	protein-coding gene	gene with protein product					NA	9119394	Standard	NM_017515	NM_017515	NA	Approved	FLJ13018	uc001pjq.3	Q8IXU6	OTTHUMG00000166366	ENST00000525071.1:c.287-1C>T	11.37:g.107682519G>A		NA	Q14963|Q5JPA8|Q6ZRQ3|Q9H947	37																																																																																				SLC35F2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000389418.1	Silent	-	ENST00000525071.1	Splice_Site	SNP	11 : 107682519 - 107682519 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	575	101
RP1	6101	broad.mit.edu	37	8	55537454	55537454	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55537454C>T	ENST00000220676.1	+	4	1160	c.1012C>T	c.(1012-1014)Cga>Tga	p.R338*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	338					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GATGAAAGTTCGATTCAGAAT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(91;1014 1389 7634 14542 40420)							NA				0													68	67	67			NA	NA	8		NA											NA				55537454		2203	4300	6503	SO:0001587	stop_gained			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237	6101	6101			10263	protein-coding gene	gene with protein product		603937			NA	1783394	Standard	NM_006269	NM_006269	NA	Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1012C>T	8.37:g.55537454C>T	ENSP00000220676:p.Arg338*	NA		37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	37	6.509009	0.97624	.	.	ENSG00000104237	ENST00000220676	.	.	.	5.08	4.19	0.49359	.	0.148426	0.31577	N	0.007406	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8105	0.69992	0.1453:0.8547:0.0:0.0	.	.	.	.	X	338	.	ENSP00000220676:R338X	R	+	1	2	RP1	55700007	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.954000	0.63631	1.111000	0.41721	0.655000	0.94253	CGA	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378532.2		+	ENST00000220676.1	Nonsense_Mutation	SNP	8 : 55537454 - 55537454 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	233	44
NRROS	375387	broad.mit.edu	37	3	196387788	196387788	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196387788C>A	ENST00000328557.4	+	3	1477	c.1274C>A	c.(1273-1275)gCt>gAt	p.A425D		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species	NA											NA						TTCGCCAATGCTAGGAACATC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	118	117			NA	NA	3		NA											NA				196387788		2203	4300	6503	SO:0001583	missense			AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004	375387	375387			24613	protein-coding gene	gene with protein product		615322	leucine rich repeat containing 33	LRRC33	NA	12975309	Standard	NM_198565	NM_198565	NA	Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.1274C>A	3.37:g.196387788C>A	ENSP00000328625:p.Ala425Asp	NA		37	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.832946	0.32421	.	.	ENSG00000174004	ENST00000328557	T	0.00976	5.48	6.03	6.03	0.97812	.	0.190802	0.47455	D	0.000229	T	0.02267	0.0070	L	0.33710	1.025	0.80722	D	1	D	0.60575	0.988	P	0.57057	0.812	T	0.64812	-0.6319	10	0.66056	D	0.02	.	13.7229	0.62740	0.0:0.9301:0.0:0.0699	.	425	Q86YC3	LRC33_HUMAN	D	425	ENSP00000328625:A425D	ENSP00000328625:A425D	A	+	2	0	LRRC33	197872185	0.943000	0.32029	0.528000	0.27938	0.083000	0.17756	4.655000	0.61476	2.854000	0.98071	0.655000	0.94253	GCT	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340676.1		+	ENST00000328557.4	Missense_Mutation	SNP	3 : 196387788 - 196387788 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1086	239
ATCAY	85300	broad.mit.edu	37	19	3910849	3910849	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3910849C>T	ENST00000450849.2	+	8	1295	c.828C>T	c.(826-828)ttC>ttT	p.F276F	ATCAY_ENST00000301260.6_Silent_p.F276F|ATCAY_ENST00000600960.1_Silent_p.F276F|ATCAY_ENST00000398448.3_Silent_p.F282F	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	276	CRAL-TRIO.				transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		CCTCGTGGTTCATTCGGACTG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	131	128			NA	NA	19		NA											NA				3910849		2138	4237	6375	SO:0001819	synonymous_variant				CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654	85300	85300			779	protein-coding gene	gene with protein product	Cayman ataxia, caytaxin	608179			NA	8845847, 14556008	Standard		NM_033064	NA	Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.828C>T	19.37:g.3910849C>T		NA	Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	37	CCDS45923.1																																																																																			ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457872.2		+	ENST00000450849.2	Silent	SNP	19 : 3910849 - 3910849 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	478	96
MYLK	4638	broad.mit.edu	37	3	123348342	123348342	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123348342T>G	ENST00000346322.5	-	29	5179	c.4886A>C	c.(4885-4887)aAt>aCt	p.N1629T	MYLK_ENST00000360304.3_Missense_Mutation_p.N1698T|MYLK_ENST00000475616.1_Missense_Mutation_p.N1698T|MYLK_ENST00000359169.1_Intron|MYLK-AS1_ENST00000463408.1_RNA|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000360772.3_Intron|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000354792.5_Missense_Mutation_p.N498T	NM_053026.3	NP_444254.3	Q15746	MYLK_HUMAN	myosin light chain kinase	1698	Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTTCAGCAGATTGCTGATGAA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	122	126			NA	NA	3		NA											NA				123348342		2203	4300	6503	SO:0001583	missense			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	4638	4638	2.7.11.18	Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	7590	protein-coding gene	gene with protein product	smooth muscle myosin light chain kinase	600922	myosin, light polypeptide kinase		NA	8575746	Standard	NM_053025	NM_053026	NA	Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000346322.5:c.4886A>C	3.37:g.123348342T>G	ENSP00000320622:p.Asn1629Thr	NA	O95796|O95797|O95798|O95799|Q14844|Q16794|Q5MY99|Q5MYA0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UIT9	37	CCDS43141.1	.	.	.	.	.	.	.	.	.	.	T	15.33	2.800906	0.50315	.	.	ENSG00000065534	ENST00000360304;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.65	-3.02	0.05446	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.60235	0.2253	N	0.13043	0.29	0.24979	N	0.991617	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.70487	0.962;0.938;0.969	T	0.59579	-0.7428	9	0.44086	T	0.13	.	13.1719	0.59604	0.0:0.542:0.0:0.458	.	1698;1629;1698	Q15746-6;Q15746-2;Q15746	.;.;MYLK_HUMAN	T	1698;1629;498;1698	ENSP00000353452:N1698T;ENSP00000320622:N1629T;ENSP00000346846:N498T;ENSP00000418335:N1698T	ENSP00000320622:N1629T	N	-	2	0	MYLK	124831032	0.841000	0.29509	0.016000	0.15963	0.503000	0.33858	0.656000	0.24948	-0.692000	0.05128	-0.904000	0.02843	AAT	MYLK-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280601.1		-	ENST00000346322.5	Missense_Mutation	SNP	3 : 123348342 - 123348342 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	86
DCTN4	51164	broad.mit.edu	37	5	150097898	150097898	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150097898G>T	ENST00000447998.2	-	11	1126	c.1011C>A	c.(1009-1011)acC>acA	p.T337T	DCTN4_ENST00000424236.1_Silent_p.T280T|DCTN4_ENST00000446090.2_Silent_p.T344T	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	337						centrosome|nucleus	protein N-terminus binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGTCACATGGGTGAGGTTCT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	114	120			NA	NA	5		NA											NA				150097898		2203	4300	6503	SO:0001819	synonymous_variant			AF195120	CCDS4310.1, CCDS47310.1, CCDS47311.1	5q31-q32	2008-05-23			ENSG00000132912	ENSG00000132912	51164	51164			15518	protein-coding gene	gene with protein product		614758			NA	10843801, 16554302	Standard		NM_016221	NA	Approved		uc010jhi.3	Q9UJW0	OTTHUMG00000130079	ENST00000447998.2:c.1011C>A	5.37:g.150097898G>T		NA	B3KWW0|D3DQH0|E5RGT5|Q8TAN8	37	CCDS4310.1																																																																																			DCTN4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252372.1		-	ENST00000447998.2	Silent	SNP	5 : 150097898 - 150097898 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	181	7
CMIP	80790	broad.mit.edu	37	16	81739151	81739151	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81739151C>T	ENST00000537098.3	+	19	2211	c.2139C>T	c.(2137-2139)ctC>ctT	p.L713L	CMIP_ENST00000539778.2_Silent_p.L619L|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Silent_p.L560L	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	679						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						TCACCATGCTCCAGGTGCTGA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	50	49			NA	NA	16		NA											NA				81739151		2027	4170	6197	SO:0001819	synonymous_variant			AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815	80790	80790			24319	protein-coding gene	gene with protein product		610112			NA	11214970, 12939343	Standard	NM_030629	NM_030629	NA	Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.2139C>T	16.37:g.81739151C>T		NA	Q9C0G9	37	CCDS54044.1																																																																																			CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432399.2		+	ENST00000537098.3	Silent	SNP	16 : 81739151 - 81739151 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	128	29
NLRP14	338323	broad.mit.edu	37	11	7079535	7079535	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7079535G>T	ENST00000299481.4	+	8	2833	c.2487G>T	c.(2485-2487)gaG>gaT	p.E829D		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	829					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GTCTCACAGAGGCTGGCTGTG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	151	155			NA	NA	11		NA											NA				7079535		2201	4296	6497	SO:0001583	missense			BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077	338323	338323		Nucleotide-binding domain and leucine rich repeat containing	22939	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14	609665	NACHT, leucine rich repeat and PYD containing 14	NALP14	NA	12563287	Standard	NM_176822	NM_176822	NA	Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2487G>T	11.37:g.7079535G>T	ENSP00000299481:p.Glu829Asp	NA	Q7RTR6	37	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	G	0.194	-1.050293	0.01981	.	.	ENSG00000158077	ENST00000299481	T	0.19806	2.12	4.06	1.68	0.24146	.	0.403035	0.18198	N	0.148618	T	0.09202	0.0227	N	0.16478	0.41	0.09310	N	1	B	0.31435	0.323	B	0.29176	0.099	T	0.25606	-1.0127	10	0.21014	T	0.42	.	2.9839	0.05962	0.6653:0.0:0.1217:0.213	.	829	Q86W24	NAL14_HUMAN	D	829	ENSP00000299481:E829D	ENSP00000299481:E829D	E	+	3	2	NLRP14	7036111	0.000000	0.05858	0.287000	0.24848	0.436000	0.31835	-0.474000	0.06607	0.231000	0.21079	-1.107000	0.02091	GAG	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384551.1		+	ENST00000299481.4	Missense_Mutation	SNP	11 : 7079535 - 7079535 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	607	114
MYH11	4629	broad.mit.edu	37	16	15844149	15844149	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15844149G>A	ENST00000452625.2	-	17	2012	c.1925C>T	c.(1924-1926)aCg>aTg	p.T642M	MYH11_ENST00000300036.5_Missense_Mutation_p.T635M|MYH11_ENST00000396324.3_Missense_Mutation_p.T642M|MYH11_ENST00000576790.2_Missense_Mutation_p.T635M	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	635	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.T635M(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGAGCTCTCCGTCATCTTGGC	0.627		NA	T	CBFB	AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		16	16p13.13-p13.12	4629	myosin, heavy polypeptide 11, smooth muscle		L	1	Substitution - Missense(1)	large_intestine(1)											93	69	77			NA	NA	16		NA											NA				15844149		2197	4300	6497	SO:0001583	missense			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392	4629	4629		Myosins / Myosin superfamily : Class II	7569	protein-coding gene	gene with protein product		160745	myosin, heavy polypeptide 11, smooth muscle		NA	7684189	Standard	NM_001040113	NM_001040113	NA	Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000452625.2:c.1925C>T	16.37:g.15844149G>A	ENSP00000407821:p.Thr642Met	NA	O00396|O94944|P78422	37	CCDS45424.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993385	0.74703	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26	5.47	5.47	0.80525	Myosin head, motor domain (2);	0.123826	0.53938	D	0.000050	D	0.87313	0.6146	L	0.47190	1.495	0.80722	D	1	D;P;P;P;P;P	0.54397	0.966;0.619;0.619;0.619;0.904;0.619	P;P;P;P;P;P	0.49799	0.622;0.5;0.5;0.5;0.5;0.5	D	0.88077	0.2804	10	0.56958	D	0.05	.	15.4747	0.75468	0.0:0.1387:0.8613:0.0	.	642;635;635;642;635;642	B1PS43;D2JYH7;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;.;MYH11_HUMAN;.;.;.	M	635;635;642;642;642	ENSP00000300036:T635M;ENSP00000345136:T635M;ENSP00000379616:T642M;ENSP00000407821:T642M	ENSP00000300036:T635M	T	-	2	0	MYH11	15751650	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	6.660000	0.74417	2.571000	0.86741	0.561000	0.74099	ACG	MYH11-013	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000436647.2		-	ENST00000452625.2	Missense_Mutation	SNP	16 : 15844149 - 15844149 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	140	23
RHD	6007	broad.mit.edu	37	1	25628130	25628130	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25628130G>T	ENST00000328664.4	+	5	909	c.754G>T	c.(754-756)Gcc>Tcc	p.A252S	RHD_ENST00000417538.2_Missense_Mutation_p.A252S|RHD_ENST00000454452.2_Missense_Mutation_p.A252S|RHD_ENST00000342055.5_Missense_Mutation_p.A252S|RHD_ENST00000423810.2_Missense_Mutation_p.A252S|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000568195.1_Missense_Mutation_p.A252S|RHD_ENST00000357542.4_Missense_Mutation_p.A252S	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	252						integral to plasma membrane				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CGTGGTGACAGCCATCTCAGG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	139	154			NA	NA	1		NA											NA				25628130		2128	3764	5892	SO:0001583	missense			AB012623	CCDS262.1, CCDS53285.1, CCDS60027.1, CCDS60028.1, CCDS60029.1, CCDS60030.1, CCDS60031.1	1p36.11	2014-07-19	2013-10-02		ENSG00000187010	ENSG00000187010	6007	6007		CD molecules, Blood group antigens	10009	protein-coding gene	gene with protein product		111680	Rhesus blood group, D antigen, Rh blood group, D antigen	RH	NA	8220426	Standard	NM_016124	NM_016124	NA	Approved	Rh30a, Rh4, RhPI, RhII, DIIIc, CD240D	uc001bjz.3	Q02161	OTTHUMG00000003476	ENST00000328664.4:c.754G>T	1.37:g.25628130G>T	ENSP00000331871:p.Ala252Ser	NA	Q02162|Q07618|Q16147|Q16235|Q16355|Q5VSK0|Q9NPK0|Q9UQ20|Q9UQ21|Q9UQ22|Q9UQ23	37	CCDS262.1	.	.	.	.	.	.	.	.	.	.	.	12.14	1.848895	0.32699	.	.	ENSG00000187010	ENST00000328664;ENST00000419831;ENST00000454452;ENST00000342055;ENST00000357542;ENST00000417538;ENST00000423810	T;T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76;1.76	3.8	3.8	0.43715	Ammonium transporter AmtB-like (3);	0.112422	0.64402	D	0.000013	T	0.37128	0.0992	L	0.35723	1.085	0.48901	D	0.999723	D;P;D;P;P;D;P;P	0.69078	0.96;0.828;0.997;0.828;0.928;0.979;0.932;0.72	P;P;D;P;P;P;P;P	0.79108	0.764;0.58;0.992;0.654;0.687;0.87;0.859;0.654	T	0.06516	-1.0822	10	0.39692	T	0.17	-11.8312	11.213	0.48810	0.0:0.0:1.0:0.0	.	252;252;252;252;252;252;252;252	B4DLT8;Q5XLT1;Q5XLS9;Q5XLT2;Q5XLT3;E7EVW1;Q5XLT0;Q02161	.;.;.;.;.;.;.;RHD_HUMAN	S	252	ENSP00000331871:A252S;ENSP00000413849:A252S;ENSP00000339577:A252S;ENSP00000350150:A252S;ENSP00000396420:A252S;ENSP00000399640:A252S	ENSP00000331871:A252S	A	+	1	0	RHD	25500717	1.000000	0.71417	0.479000	0.27329	0.022000	0.10575	2.282000	0.43461	1.671000	0.50874	0.184000	0.17185	GCC	RHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000009660.5		+	ENST00000328664.4	Missense_Mutation	SNP	1 : 25628130 - 25628130 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	843	24
OSBPL8	114882	broad.mit.edu	37	12	76784265	76784265	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76784265G>A	ENST00000261183.3	-	11	1581	c.1102C>T	c.(1102-1104)Cct>Tct	p.P368S	OSBPL8_ENST00000393250.4_Missense_Mutation_p.P326S|OSBPL8_ENST00000393249.2_Missense_Mutation_p.P326S	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	368					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						ACAGGCTCAGGTTCGATATAT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													256	217	230			NA	NA	12		NA											NA				76784265		2203	4300	6503	SO:0001583	missense			AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039	114882	114882		Oxysterol binding proteins, Pleckstrin homology (PH) domain containing	16396	protein-coding gene	gene with protein product		606736			NA	1735225, 17991739	Standard	NM_020841	NM_020841	NA	Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.1102C>T	12.37:g.76784265G>A	ENSP00000261183:p.Pro368Ser	NA	A8K1T2|Q52LQ3|Q8WXP8|Q9P277	37	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.306712	0.23736	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946	T;T;T;T;T	0.41758	1.55;1.54;1.55;0.99;1.0	5.48	4.59	0.56863	.	0.181563	0.49305	D	0.000143	T	0.24470	0.0593	N	0.08118	0	0.49582	D	0.999806	B;B	0.22851	0.009;0.076	B;B	0.13407	0.009;0.008	T	0.03231	-1.1058	10	0.25106	T	0.35	-15.2772	15.7765	0.78224	0.0:0.0:0.8627:0.1373	.	343;368	F8VUA7;Q9BZF1	.;OSBL8_HUMAN	S	326;368;353;326;368;368;343	ENSP00000376939:P326S;ENSP00000261183:P368S;ENSP00000376940:P326S;ENSP00000450238:P368S;ENSP00000447893:P343S	ENSP00000261183:P368S	P	-	1	0	OSBPL8	75308396	1.000000	0.71417	0.979000	0.43373	0.615000	0.37417	2.702000	0.47102	1.309000	0.44985	-0.158000	0.13435	CCT	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406357.1		-	ENST00000261183.3	Missense_Mutation	SNP	12 : 76784265 - 76784265 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	585	116
PRB3	5544	broad.mit.edu	37	12	11420871	11420871	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:11420871T>C	ENST00000279573.7	-	3	447	c.312A>G	c.(310-312)ccA>ccG	p.P104P	PRB3_ENST00000538488.1_Silent_p.P104P|PRB3_ENST00000381842.3_Silent_p.P104P|PRB3_ENST00000440870.3_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	NA	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTCCTCCTTGTGGGGGTTGTC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	179	168			NA	NA	12		NA											NA				11420871		2031	4209	6240	SO:0001819	synonymous_variant					12p13.2	2012-10-02				ENSG00000197870	5544	5544			9339	protein-coding gene	gene with protein product		168840			NA	1894623	Standard	NM_006249	NM_006249	NA	Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.312A>G	12.37:g.11420871T>C		NA	Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	37																																																																																				PRB3-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000402119.5		-	ENST00000279573.7	Silent	SNP	12 : 11420871 - 11420871 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1714	393
MYF5	4617	broad.mit.edu	37	12	81111163	81111163	+	Missense_Mutation	SNP	G	G	T	rs138763221		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81111163G>T	ENST00000228644.3	+	1	473	c.321G>T	c.(319-321)aaG>aaT	p.K107N		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	107	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						AAACCCTCAAGAGGTGTACCA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	67	69			NA	NA	12		NA											NA				81111163		2203	4300	6503	SO:0001583	missense				CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049	4617	4617		Basic helix-loop-helix proteins	7565	protein-coding gene	gene with protein product		159990			NA	8978788, 12105204	Standard	NM_005593	NM_005593	NA	Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.321G>T	12.37:g.81111163G>T	ENSP00000228644:p.Lys107Asn	NA	Q6ISR9	37	CCDS9020.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956824	0.73902	.	.	ENSG00000111049	ENST00000228644	D	0.98381	-4.9	6.06	6.06	0.98353	Helix-loop-helix DNA-binding (5);	0.044574	0.85682	D	0.000000	D	0.98748	0.9579	M	0.83483	2.645	0.54753	D	0.999983	D	0.89917	1.0	D	0.87578	0.998	D	0.98572	1.0646	10	0.66056	D	0.02	-14.152	10.1967	0.43058	0.0701:0.1373:0.7927:0.0	.	107	P13349	MYF5_HUMAN	N	107	ENSP00000228644:K107N	ENSP00000228644:K107N	K	+	3	2	MYF5	79635294	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.083000	0.41615	2.882000	0.98803	0.655000	0.94253	AAG	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407757.1		+	ENST00000228644.3	Missense_Mutation	SNP	12 : 81111163 - 81111163 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	475	52
TLDC2	140711	broad.mit.edu	37	20	35517697	35517697	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35517697G>A	ENST00000217320.3	+	6	600	c.556G>A	c.(556-558)Gga>Aga	p.G186R	TLDC2_ENST00000602922.1_Missense_Mutation_p.G186R	NM_080628.1	NP_542195.1			TBC/LysM-associated domain containing 2	NA											NA						GTTCCGCGGGGGAAGCTCCCC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	80	84			NA	NA	20		NA											NA				35517697		2203	4300	6503	SO:0001583	missense			AL079335	CCDS33465.1	20q11.23	2013-03-14	2013-03-14	2013-03-14	ENSG00000101342	ENSG00000101342	140711	140711			16112	protein-coding gene	gene with protein product	hypothetical protein LOC140711, TLD domain containing 2		chromosome 20 open reading frame 118	C20orf118	NA		Standard	NM_080628	NM_080628	NA	Approved	dJ132F21.2	uc002xgg.1	A0PJX2	OTTHUMG00000032400	ENST00000217320.3:c.556G>A	20.37:g.35517697G>A	ENSP00000217320:p.Gly186Arg	NA		37	CCDS33465.1	.	.	.	.	.	.	.	.	.	.	G	0.509	-0.867492	0.02590	.	.	ENSG00000101342	ENST00000217320	T	0.40225	1.04	5.41	4.46	0.54185	TLDc (2);	0.113706	0.64402	N	0.000012	T	0.18087	0.0434	N	0.04275	-0.24	0.39126	D	0.96176	B	0.02656	0.0	B	0.09377	0.004	T	0.14090	-1.0485	10	0.02654	T	1	-7.3498	11.9132	0.52751	0.0819:0.0:0.9181:0.0	.	186	A0PJX2	CT118_HUMAN	R	186	ENSP00000217320:G186R	ENSP00000217320:G186R	G	+	1	0	C20orf118	34951111	0.933000	0.31639	0.830000	0.32933	0.180000	0.23129	1.651000	0.37302	1.275000	0.44379	0.655000	0.94253	GGA	TLDC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079060.2		+	ENST00000217320.3	Missense_Mutation	SNP	20 : 35517697 - 35517697 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	466	16
RNASEH2A	10535	broad.mit.edu	37	19	12924273	12924273	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12924273G>T	ENST00000221486.4	+	8	987	c.893G>T	c.(892-894)aGc>aTc	p.S298I		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	298					DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	metal ion binding|ribonuclease H activity|RNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						TCAGCAACCAGCCTCTAGCAG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	55	57			NA	NA	19		NA											NA				12924273		2203	4300	6503	SO:0001583	missense			Z97029	CCDS12282.1	19p13.13	2014-09-17	2006-08-17			ENSG00000104889	10535	10535	3.1.26.-		18518	protein-coding gene	gene with protein product		606034	ribonuclease H2, large subunit, Aicardi-Goutieres syndrome 4		NA	9789007, 16845400	Standard	NM_006397	NM_006397	NA	Approved	RNASEHI, RNHIA, RNHL, AGS4	uc002mvg.1	O75792		ENST00000221486.4:c.893G>T	19.37:g.12924273G>T	ENSP00000221486:p.Ser298Ile	NA	B2RCY1|Q96F11	37	CCDS12282.1	.	.	.	.	.	.	.	.	.	.	G	9.021	0.984866	0.18889	.	.	ENSG00000104889	ENST00000221486	D	0.82984	-1.67	4.06	-5.83	0.02325	.	1.265410	0.05450	N	0.549285	T	0.71736	0.3375	L	0.47716	1.5	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.53878	-0.8376	10	0.39692	T	0.17	-2.3073	2.6883	0.05113	0.1069:0.1625:0.392:0.3386	.	298	O75792	RNH2A_HUMAN	I	298	ENSP00000221486:S298I	ENSP00000221486:S298I	S	+	2	0	RNASEH2A	12785273	0.000000	0.05858	0.017000	0.16124	0.800000	0.45204	-0.203000	0.09438	-0.960000	0.03613	-0.211000	0.12701	AGC	RNASEH2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451507.1		+	ENST00000221486.4	Missense_Mutation	SNP	19 : 12924273 - 12924273 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	407	39
ALAS2	212	broad.mit.edu	37	X	55035746	55035746	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:55035746C>T	ENST00000396198.3	-	11	1677	c.1592G>A	c.(1591-1593)gGg>gAg	p.G531E	ALAS2_ENST00000330807.5_Missense_Mutation_p.G544E|ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000335854.4_Missense_Mutation_p.G507E	NM_001037968.3	NP_001033057.1	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	544					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	GAGGGGCAGCCCCACCGCAGT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	21	22			NA	NA	X		NA											NA				55035746		2200	4297	6497	SO:0001583	missense				CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	212	212	2.3.1.37		397	protein-coding gene	gene with protein product	sideroblastic/hypochromic anemia	301300	aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)	ASB	NA	1577484	Standard	NM_000032	NM_000032	NA	Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000396198.3:c.1592G>A	X.37:g.55035746C>T	ENSP00000379501:p.Gly531Glu	NA	Q13735	37	CCDS43960.1	.	.	.	.	.	.	.	.	.	.	C	9.778	1.174616	0.21704	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.97328	-4.34;-4.15;-4.12	5.39	4.52	0.55395	Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.047841	0.85682	D	0.000000	D	0.96147	0.8744	M	0.77820	2.39	0.58432	D	0.999999	B;B;B	0.31859	0.343;0.343;0.343	B;B;B	0.37833	0.167;0.259;0.216	D	0.94339	0.7569	10	0.48119	T	0.1	-16.5056	8.0581	0.30617	0.1612:0.753:0.0:0.0858	.	507;531;544	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	E	544;531;507	ENSP00000332369:G544E;ENSP00000379501:G531E;ENSP00000337131:G507E	ENSP00000332369:G544E	G	-	2	0	ALAS2	55052471	1.000000	0.71417	0.913000	0.36048	0.012000	0.07955	4.961000	0.63681	1.161000	0.42604	-0.237000	0.12165	GGG	ALAS2-007	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056844.2		-	ENST00000396198.3	Missense_Mutation	SNP	X : 55035746 - 55035746 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	57	16
CARD17	440068	broad.mit.edu	37	11	104971328	104971328	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104971328A>G	ENST00000375707.1	-	2	202	c.186T>C	c.(184-186)atT>atC	p.I62I	CASP1_ENST00000593315.1_Intron|CASP1_ENST00000594519.1_Intron|CARD16_ENST00000525374.1_Intron|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000415981.2_Intron	NM_001007232.1	NP_001007233.1			caspase recruitment domain family, member 17	NA										breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	6						CCCCTTTCCGAATAACAGAGT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	140	144			NA	NA	11		NA											NA				104971328		2202	4299	6501	SO:0001819	synonymous_variant				CCDS31662.1	11q22.3	2009-01-13				ENSG00000255221	440068	440068			33827	protein-coding gene	gene with protein product	Inhibitory CARD	609490			NA	15383541	Standard	NM_001007232	NM_001007232	NA	Approved	INCA	uc001pir.1	Q5XLA6		ENST00000375707.1:c.186T>C	11.37:g.104971328A>G		NA		37	CCDS31662.1																																																																																			CARD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388181.1		-	ENST00000375707.1	Silent	SNP	11 : 104971328 - 104971328 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	715	65
CEP44	80817	broad.mit.edu	37	4	175231080	175231080	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:175231080C>T	ENST00000503780.1	+	8	1172	c.758C>T	c.(757-759)tCg>tTg	p.S253L	CEP44_ENST00000426172.1_Missense_Mutation_p.S253L|CEP44_ENST00000296519.4_Missense_Mutation_p.S253L|CEP44_ENST00000457424.2_Missense_Mutation_p.S253L	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	253						centrosome|midbody|spindle pole		p.S253L(1)		endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						AAACTGACTTCGATAGAGAAA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											67	73	71			NA	NA	4		NA											NA				175231080		2203	4300	6503	SO:0001583	missense			AB051499	CCDS34106.1, CCDS47163.1	4q34	2014-02-20	2011-05-06	2011-05-06	ENSG00000164118	ENSG00000164118	80817	80817			29356	protein-coding gene	gene with protein product			KIAA1712	KIAA1712	NA	21399614	Standard	NM_030633	NM_001040157	NA	Approved		uc010iro.2	Q9C0F1	OTTHUMG00000160752	ENST00000503780.1:c.758C>T	4.37:g.175231080C>T	ENSP00000423153:p.Ser253Leu	NA	A8K8W9|A8MW11|B3KT53|D3DP42|Q8IXZ4	37	CCDS34106.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.979512	0.00448	.	.	ENSG00000164118	ENST00000503780;ENST00000457424;ENST00000426172;ENST00000296519	T;T;T;T	0.39406	1.11;1.08;1.08;1.11	5.71	-5.99	0.02213	.	1.760470	0.02397	N	0.080302	T	0.09468	0.0233	N	0.00583	-1.355	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31166	-0.9953	10	0.02654	T	1	.	3.1926	0.06623	0.1208:0.1606:0.3153:0.4033	.	253;253	Q9C0F1-2;Q9C0F1	.;CEP44_HUMAN	L	253	ENSP00000423153:S253L;ENSP00000389427:S253L;ENSP00000408221:S253L;ENSP00000296519:S253L	ENSP00000296519:S253L	S	+	2	0	CEP44	175467655	0.001000	0.12720	0.000000	0.03702	0.036000	0.12997	-0.168000	0.09925	-0.988000	0.03489	-1.900000	0.00529	TCG	CEP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362109.2		+	ENST00000503780.1	Missense_Mutation	SNP	4 : 175231080 - 175231080 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	176	29
E2F6	1876	broad.mit.edu	37	2	11597324	11597324	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11597324T>C	ENST00000381525.3	-	2	413	c.144A>G	c.(142-144)gtA>gtG	p.V48V	E2F6_ENST00000542100.1_5'UTR|E2F6_ENST00000362009.4_Silent_p.V48V|E2F6_ENST00000546212.1_Intron|E2F6_ENST00000307236.4_Silent_p.V16V	NM_198256.2	NP_937987.2	O75461	E2F6_HUMAN	E2F transcription factor 6	48					negative regulation of transcription from RNA polymerase II promoter	MLL1 complex|transcription factor complex	DNA binding|transcription corepressor activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		ACACATATTGTACATTATCTT	0.249		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	73	75			NA	NA	2		NA											NA				11597324		1788	4061	5849	SO:0001819	synonymous_variant			AF041381	CCDS1680.2, CCDS62858.1, CCDS62859.1	2p25.1	2008-02-05			ENSG00000169016	ENSG00000169016	1876	1876			3120	protein-coding gene	gene with protein product		602944			NA	9501179	Standard	NM_001952	NM_198256	NA	Approved	E2F-6	uc002rbh.4	O75461	OTTHUMG00000090565	ENST00000381525.3:c.144A>G	2.37:g.11597324T>C		NA	A8K2Z8|O60544|Q53QY9|Q7Z2H6	37	CCDS1680.2																																																																																			E2F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207101.2		-	ENST00000381525.3	Silent	SNP	2 : 11597324 - 11597324 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	190	53
RASGRP1	10125	broad.mit.edu	37	15	38791016	38791016	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:38791016C>A	ENST00000310803.5	-	15	2029	c.1852G>T	c.(1852-1854)Gga>Tga	p.G618*	RASGRP1_ENST00000558164.1_Intron|RASGRP1_ENST00000539159.1_Nonsense_Mutation_p.G570*|RASGRP1_ENST00000450598.2_Nonsense_Mutation_p.G583*|RASGRP1_ENST00000559830.1_Nonsense_Mutation_p.G583*|RASGRP1_ENST00000561180.1_Nonsense_Mutation_p.G669*	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	618					cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TCTTTGGCTCCCAATGAGCAA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	109	109			NA	NA	15		NA											NA				38791016		1873	4095	5968	SO:0001587	stop_gained			AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575	10125	10125		EF-hand domain containing	9878	protein-coding gene	gene with protein product		603962			NA	10087292, 9789079	Standard	NM_005739	NM_005739	NA	Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.1852G>T	15.37:g.38791016C>A	ENSP00000310244:p.Gly618*	NA	Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	37	CCDS45222.1	.	.	.	.	.	.	.	.	.	.	C	36	5.629023	0.96671	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000539159	.	.	.	5.39	5.39	0.77823	.	0.399974	0.27130	N	0.020800	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-15.4143	19.34	0.94337	0.0:1.0:0.0:0.0	.	.	.	.	X	618;583;583;570	.	ENSP00000310244:G618X	G	-	1	0	RASGRP1	36578308	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	5.190000	0.65104	2.808000	0.96608	0.655000	0.94253	GGA	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418223.1		-	ENST00000310803.5	Nonsense_Mutation	SNP	15 : 38791016 - 38791016 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	548	100
ZNF613	79898	broad.mit.edu	37	19	52448197	52448197	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52448197G>A	ENST00000293471.6	+	6	1740	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H	ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Missense_Mutation_p.R318H	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AAAGCATTCCGCTGGAAATCA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	97	97			NA	NA	19		NA											NA				52448197		2203	4300	6503	SO:0001583	missense			AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08					79898	79898		Zinc fingers, C2H2-type, -	25827	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024840	NM_001031721	NA	Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.1061G>A	19.37:g.52448197G>A	ENSP00000293471:p.Arg354His	NA	Q96SS9	37	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905323	0.52333	.	.	ENSG00000176024	ENST00000293471;ENST00000391794;ENST00000535279	T;T	0.07567	3.18;3.18	3.26	2.21	0.28008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.950270	0.02940	N	0.140304	T	0.10981	0.0268	L	0.53249	1.67	0.22926	N	0.998558	B	0.25351	0.124	B	0.23419	0.046	T	0.32428	-0.9907	10	0.54805	T	0.06	.	4.6272	0.12484	0.1284:0.2282:0.6434:0.0	.	354	Q6PF04	ZN613_HUMAN	H	354;318;28	ENSP00000293471:R354H;ENSP00000375671:R318H	ENSP00000293471:R354H	R	+	2	0	ZNF613	57140009	0.000000	0.05858	0.793000	0.32043	0.922000	0.55478	-2.036000	0.01421	0.708000	0.31955	0.655000	0.94253	CGC	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461104.2		+	ENST00000293471.6	Missense_Mutation	SNP	19 : 52448197 - 52448197 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	505	63
PROS1	5627	broad.mit.edu	37	3	93611924	93611924	+	Silent	SNP	G	G	A	rs141208672		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:93611924G>A	ENST00000394236.3	-	10	1324	c.1008C>T	c.(1006-1008)ggC>ggT	p.G336G	PROS1_ENST00000407433.1_Silent_p.G205G	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	336	Laminin G-like 1.		G -> D (in PROS1D).|G -> S (in PROS1D).|G -> V (in PROS1D; expresses very low/ undetectable PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found).		leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	ACAGTATCACGCCTTCTGAAT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4405	2.1+/-5.4	0,1,2202	69	65	66		1008	-1.5	1	3	dbSNP_134	66	0,8600		0,0,4300	no	coding-synonymous	PROS1	NM_000313.3		0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077		336/677	93611924	1,13005	2203	4300	6503	SO:0001819	synonymous_variant				CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500	5627	5627			9456	protein-coding gene	gene with protein product		176880		PROS	NA	214811, 1833851	Standard	NM_000313	NM_000313	NA	Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.1008C>T	3.37:g.93611924G>A		NA	A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	37	CCDS2923.1																																																																																			PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317762.1		-	ENST00000394236.3	Silent	SNP	3 : 93611924 - 93611924 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	231	46
DFNB59	494513	broad.mit.edu	37	2	179318256	179318256	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179318256G>A	ENST00000409117.3	+	2	476	c.120G>A	c.(118-120)aaG>aaA	p.K40K	DFNB59_ENST00000375129.4_Silent_p.K40K	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	40					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TGGTAAAAAAGAAGCGATGCT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	93	96			NA	NA	2		NA											NA				179318256		1846	4093	5939	SO:0001819	synonymous_variant			BC020859, BQ887979	CCDS42787.1	2q31.2	2011-07-01			ENSG00000204311	ENSG00000204311	494513	494513			29502	protein-coding gene	gene with protein product		610219			NA	16804542	Standard		NM_001042702	NA	Approved	pejvakin	uc002umi.4	Q0ZLH3	OTTHUMG00000154425	ENST00000409117.3:c.120G>A	2.37:g.179318256G>A		NA	A0PK14|B9EJE2	37	CCDS42787.1																																																																																			DFNB59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335160.1		+	ENST00000409117.3	Silent	SNP	2 : 179318256 - 179318256 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	312	82
KDELC1	79070	broad.mit.edu	37	13	103440220	103440220	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103440220G>A	ENST00000376004.4	-	8	1683	c.1347C>T	c.(1345-1347)ggC>ggT	p.G449G	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	449						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ATATGTCATCGCCCATGAGAT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	101	103			NA	NA	13		NA											NA				103440220		2202	4299	6501	SO:0001819	synonymous_variant			BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901	79070	79070			19350	protein-coding gene	gene with protein product		611613			NA		Standard		NM_024089	NA	Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.1347C>T	13.37:g.103440220G>A		NA	Q53HL3|Q9BVD2	37	CCDS9504.1																																																																																			KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045699.1		-	ENST00000376004.4	Silent	SNP	13 : 103440220 - 103440220 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	464	72
KRT19	3880	broad.mit.edu	37	17	39684192	39684192	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39684192G>A	ENST00000361566.3	-	1	368	c.308C>T	c.(307-309)gCg>gTg	p.A103V		NM_002276.4	NP_002267.2			keratin 19	NA										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				GCCGTTGGCCGCCTCCAGGGC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	58	56			NA	NA	17		NA											NA				39684192		2203	4300	6503	SO:0001583	missense				CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345	3880	3880		-, Intermediate filaments type I, keratins (acidic)	6436	protein-coding gene	gene with protein product	keratin, type I cytoskeletal 19, keratin, type I, 40-kd, cytokeratin 19, 40-kDa keratin intermediate filament	148020			NA	16831889	Standard	NM_002276	NM_002276	NA	Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.308C>T	17.37:g.39684192G>A	ENSP00000355124:p.Ala103Val	NA		37	CCDS11399.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425371	0.62733	.	.	ENSG00000171345	ENST00000361566;ENST00000455635	D;D	0.89552	-2.53;-2.53	4.83	-2.78	0.05859	Filament (1);	2.457230	0.01645	N	0.024244	D	0.85535	0.5719	L	0.42632	1.34	0.09310	N	1	P	0.44260	0.83	B	0.37239	0.244	T	0.77362	-0.2616	10	0.66056	D	0.02	.	14.817	0.70041	0.0:0.0657:0.7151:0.2192	.	103	P08727	K1C19_HUMAN	V	103	ENSP00000355124:A103V;ENSP00000408759:A103V	ENSP00000355124:A103V	A	-	2	0	KRT19	36937718	0.000000	0.05858	0.252000	0.24328	0.992000	0.81027	-0.060000	0.11712	-0.783000	0.04534	0.462000	0.41574	GCG	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257285.1		-	ENST00000361566.3	Missense_Mutation	SNP	17 : 39684192 - 39684192 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	782	122
SLC5A7	60482	broad.mit.edu	37	2	108609533	108609533	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:108609533C>T	ENST00000264047.2	+	4	674	c.398C>T	c.(397-399)cCt>cTt	p.P133L	SLC5A7_ENST00000409059.1_Missense_Mutation_p.P133L|SLC5A7_ENST00000540517.1_Missense_Mutation_p.P28L	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	133					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CTGTTTATTCCTGCACTGATG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	117	121			NA	NA	2		NA											NA				108609533		2203	4300	6503	SO:0001583	missense			AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665	60482	60482		Solute carriers	14025	protein-coding gene	gene with protein product		608761	solute carrier family 5 (choline transporter), member 7		NA	11027560	Standard		NM_021815	NA	Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.398C>T	2.37:g.108609533C>T	ENSP00000264047:p.Pro133Leu	NA	Q53TF2	37	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	C	32	5.120112	0.94385	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.87650	-2.28;-2.28;-2.28	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.94863	0.8340	M	0.89715	3.055	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.93309	0.6683	10	0.36615	T	0.2	-21.9717	20.6397	0.99537	0.0:1.0:0.0:0.0	.	133	Q9GZV3	SC5A7_HUMAN	L	133;28;133	ENSP00000387346:P133L;ENSP00000445351:P28L;ENSP00000264047:P133L	ENSP00000264047:P133L	P	+	2	0	SLC5A7	107975965	1.000000	0.71417	0.985000	0.45067	0.692000	0.40212	7.818000	0.86416	2.880000	0.98712	0.650000	0.86243	CCT	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253562.1		+	ENST00000264047.2	Missense_Mutation	SNP	2 : 108609533 - 108609533 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	497	87
TRPV1	7442	broad.mit.edu	37	17	3493604	3493604	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3493604C>A	ENST00000310522.5	-	4	686	c.687G>T	c.(685-687)caG>caT	p.Q229H	TRPV1_ENST00000174621.6_Missense_Mutation_p.Q227H|TRPV1_ENST00000571088.1_Missense_Mutation_p.Q229H|SHPK_ENST00000572705.1_Missense_Mutation_p.Q229H|TRPV1_ENST00000576351.1_Missense_Mutation_p.Q229H|TRPV1_ENST00000399759.3_Missense_Mutation_p.Q229H|TRPV1_ENST00000425167.2_Missense_Mutation_p.Q229H|TRPV1_ENST00000399756.4_Missense_Mutation_p.Q229H			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	229					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	GGGCCGCAGCCTGGACGTCTG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(38;962 1762 15789)							NA				0													71	78	75			NA	NA	17		NA											NA				3493604		2106	4229	6335	SO:0001583	missense			AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304	7442	7442		Voltage-gated ion channels / Transient receptor potential cation channels, Ankyrin repeat domain containing	12716	protein-coding gene	gene with protein product		602076	vanilloid receptor subtype 1	VR1	NA	9349813, 11549313, 16382100	Standard	NM_018727	NM_018727	NA	Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000310522.5:c.687G>T	17.37:g.3493604C>A	ENSP00000311692:p.Gln229His	NA	A2RUA9|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	37	CCDS45576.1	.	.	.	.	.	.	.	.	.	.	C	0.208	-1.038881	0.02013	.	.	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000174621;ENST00000425167;ENST00000310522	T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08	5.12	4.04	0.47022	Ankyrin repeat-containing domain (4);	0.047547	0.85682	D	0.000000	T	0.29556	0.0737	N	0.02286	-0.61	0.34797	D	0.736369	B;B;B;B	0.12013	0.001;0.001;0.001;0.005	B;B;B;B	0.11329	0.002;0.004;0.003;0.006	T	0.38045	-0.9679	10	0.02654	T	1	-12.4387	10.4822	0.44700	0.3709:0.6291:0.0:0.0	.	229;227;229;229	Q8NER1;E7EQ80;E7ESJ2;E7EQ78	TRPV1_HUMAN;.;.;.	H	229;229;227;229;229	ENSP00000382661:Q229H;ENSP00000382659:Q229H;ENSP00000174621:Q227H;ENSP00000409627:Q229H;ENSP00000311692:Q229H	ENSP00000174621:Q227H	Q	-	3	2	TRPV1	3440353	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	0.683000	0.25349	2.555000	0.86185	0.467000	0.42956	CAG	TRPV1-006	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438259.1		-	ENST00000310522.5	Missense_Mutation	SNP	17 : 3493604 - 3493604 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	455	49
FAT1	2195	broad.mit.edu	37	4	187540695	187540695	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187540695C>A	ENST00000441802.2	-	10	7254	c.7045G>T	c.(7045-7047)Gat>Tat	p.D2349Y		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2349	Cadherin 21.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGCTCGTAATCCAGGGTTCTG	0.498		NA								HNSCC(5;0.00058)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(197;1040 2055 4143 4984 49344)							NA				0													146	149	148			NA	NA	4		NA											NA				187540695		2126	4237	6363	SO:0001583	missense			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857	2195	2195		Cadherins / Cadherin-related	3595	protein-coding gene	gene with protein product	cadherin-related family member 8	600976	FAT tumor suppressor (Drosophila) homolog, FAT tumor suppressor homolog 1 (Drosophila)	FAT	NA	8586420	Standard	NM_005245	XM_005262834	NA	Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7045G>T	4.37:g.187540695C>A	ENSP00000406229:p.Asp2349Tyr	NA		37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803103	0.50315	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.04275	3.66	5.45	5.45	0.79879	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.41351	0.1155	H	0.98769	4.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64909	-0.6296	10	0.87932	D	0	.	19.4782	0.94998	0.0:1.0:0.0:0.0	.	2349	Q14517	FAT1_HUMAN	Y	2349;2351	ENSP00000406229:D2349Y	ENSP00000260147:D2351Y	D	-	1	0	FAT1	187777689	1.000000	0.71417	1.000000	0.80357	0.046000	0.14306	7.651000	0.83577	2.838000	0.97847	0.655000	0.94253	GAT	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360209.3		-	ENST00000441802.2	Missense_Mutation	SNP	4 : 187540695 - 187540695 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	726	53
CCDC57	284001	broad.mit.edu	37	17	80159683	80159683	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80159683C>T	ENST00000392343.3	-	3	492	c.138G>A	c.(136-138)gcG>gcA	p.A46A	CCDC57_ENST00000392347.1_Silent_p.A46A|CCDC57_ENST00000389641.4_Silent_p.A46A			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	46										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GTTTCCCCTGCGCCTCCTCCA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4280		0,0,2140	41	48	46		138	-9.9	0.1	17		46	1,8489		0,1,4244	no	coding-synonymous	CCDC57	NM_198082.2		0,1,6384	TT,TC,CC	NA	0.0118,0.0,0.0078		46/916	80159683	1,12769	2140	4245	6385	SO:0001819	synonymous_variant			BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155	284001	284001			27564	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_198082	XM_006722279	NA	Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000392343.3:c.138G>A	17.37:g.80159683C>T		NA	A6NP51|A8MQC7|Q8IWG2|Q8TER3	37																																																																																				CCDC57-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000277183.1		-	ENST00000392343.3	Silent	SNP	17 : 80159683 - 80159683 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	384	97
PHIP	55023	broad.mit.edu	37	6	79650542	79650542	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79650542A>G	ENST00000275034.4	-	40	5501	c.5334T>C	c.(5332-5334)taT>taC	p.Y1778Y	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1778					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CATCCTCATTATAGAAAGCTG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													586	577	580			NA	NA	6		NA											NA				79650542		2203	4300	6503	SO:0001819	synonymous_variant			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247	55023	55023		WD repeat domain containing, DDB1 and CUL4 associated factors	15673	protein-coding gene	gene with protein product	DDB1 and CUL4 associated factor 14	612870		WDR11	NA	11018022	Standard		NM_017934	NA	Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.5334T>C	6.37:g.79650542A>G		NA	B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	37	CCDS4987.1																																																																																			PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041297.2		-	ENST00000275034.4	Silent	SNP	6 : 79650542 - 79650542 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	413	90
RP11-219A15.1	0	broad.mit.edu	37	17	16594033	16594033	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16594033G>A	ENST00000448331.3	+	1	459	c.319G>A	c.(319-321)Gtg>Atg	p.V107M	CCDC144A_ENST00000443444.2_Missense_Mutation_p.V107M|CCDC144A_ENST00000456009.1_Missense_Mutation_p.V107M|CCDC144A_ENST00000360524.8_Missense_Mutation_p.V107M|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000399273.1_Missense_Mutation_p.V107M|CCDC144A_ENST00000340621.5_Missense_Mutation_p.V107M						NA											NA						AGACACTGGCGTGGACAAGAG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	128	126			NA	NA	17		NA											NA				16594033		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000448331.3:c.319G>A	17.37:g.16594033G>A	ENSP00000440655:p.Val107Met	NA		37		.	.	.	.	.	.	.	.	.	.	.	2.800	-0.249347	0.05867	.	.	ENSG00000170160	ENST00000420937;ENST00000340621;ENST00000399273;ENST00000436374;ENST00000399264;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000456009;ENST00000360495	T;T;T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75;1.75;1.75	0.542	-1.08	0.09936	.	.	.	.	.	T	0.13884	0.0336	N	0.22421	0.69	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.23797	-1.0178	8	0.41790	T	0.15	.	.	.	.	.	107	A2RUR9	C144A_HUMAN	M	107	ENSP00000344740:V107M;ENSP00000382215:V107M;ENSP00000439262:V107M;ENSP00000440655:V107M;ENSP00000353717:V107M;ENSP00000394201:V107M;ENSP00000353685:V107M	ENSP00000344740:V107M	V	+	1	0	CCDC144A	16534758	0.749000	0.28305	0.009000	0.14445	0.004000	0.04260	-0.912000	0.04046	-0.411000	0.07530	-0.779000	0.03376	GTG	RP11-219A15.1-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000445382.1		+	ENST00000448331.3	Missense_Mutation	SNP	17 : 16594033 - 16594033 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1123	229
LEMD1	93273	broad.mit.edu	37	1	205350901	205350901	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205350901A>G	ENST00000367153.4	-	6	533	c.431T>C	c.(430-432)aTc>aCc	p.I144T	LEMD1_ENST00000367152.1_Missense_Mutation_p.I103T|LEMD1_ENST00000367151.2_Missense_Mutation_p.I103T|LEMD1_ENST00000367149.3_Missense_Mutation_p.S56P|LEMD1_ENST00000391936.2_Missense_Mutation_p.S97P|LEMD1-AS1_ENST00000447832.1_RNA|LEMD1_ENST00000367154.1_Missense_Mutation_p.S97P|LEMD1_ENST00000476884.1_5'UTR	NM_001199050.1	NP_001185979.1	Q68G75	LEMD1_HUMAN	LEM domain containing 1	144						integral to membrane|nuclear envelope				breast(1)|lung(2)	3	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			CCAGCTCTCGATAGTCTGGTC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													328	280	296			NA	NA	1		NA											NA				205350901		2203	4300	6503	SO:0001583	missense				CCDS30986.1, CCDS55677.1, CCDS55678.1, CCDS55679.1	1q32.1	2009-03-25			ENSG00000186007	ENSG00000186007	93273	93273			18725	protein-coding gene	gene with protein product	cancer/testis antigen 50	610480			NA	15254688	Standard	NM_001001552	NM_001199050	NA	Approved	LEMP-1, CT50	uc001hcj.2	Q68G75	OTTHUMG00000037201	ENST00000367153.4:c.431T>C	1.37:g.205350901A>G	ENSP00000356121:p.Ile144Thr	NA	Q6L9T9|Q6L9U0|Q6L9U1|Q6L9U2|Q6L9U3|Q6L9U4	37	CCDS55679.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.321|8.321	0.824374|0.824374	0.16678|0.16678	.|.	.|.	ENSG00000186007|ENSG00000186007	ENST00000367152;ENST00000367153;ENST00000367151|ENST00000367154;ENST00000391936;ENST00000367149	T;T;T|T;T;T	0.46819|0.55930	0.86;0.89;0.86|0.86;0.86;0.49	4.52|4.52	-9.04|-9.04	0.00734|0.00734	.|.	5.603240|.	0.00397|.	N|.	0.000042|.	T|T	0.32285|0.32285	0.0824|0.0824	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B|B	0.06786|0.02656	0.001;0.0|0.0	B;B|B	0.04013|0.01281	0.001;0.0|0.0	T|T	0.34229|0.34229	-0.9837|-0.9837	9|8	0.59425|0.87932	D|D	0.04|0	-43.6463|-43.6463	4.6566|4.6566	0.12620|0.12620	0.5749:0.1058:0.2172:0.1021|0.5749:0.1058:0.2172:0.1021	.|.	103;144|97	Q68G75-3;Q68G75|Q68G75-5	.;LEMD1_HUMAN|.	T|P	103;144;103|97;97;56	ENSP00000356120:I103T;ENSP00000356121:I144T;ENSP00000356119:I103T|ENSP00000356122:S97P;ENSP00000375801:S97P;ENSP00000356117:S56P	ENSP00000356119:I103T|ENSP00000356117:S56P	I|S	-|-	2|1	0|0	LEMD1|LEMD1	203617524|203617524	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.482000|-1.482000	0.02320|0.02320	-2.209000|-2.209000	0.00739|0.00739	-0.934000|-0.934000	0.02701|0.02701	ATC|TCG	LEMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090401.1		-	ENST00000367153.4	Missense_Mutation	SNP	1 : 205350901 - 205350901 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1123	97
DST	667	broad.mit.edu	37	6	56473301	56473301	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56473301C>T	ENST00000361203.3	-	36	5499	c.5492G>A	c.(5491-5493)cGt>cAt	p.R1831H	DST_ENST00000446842.2_Missense_Mutation_p.R1505H|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Missense_Mutation_p.R1831H|DST_ENST00000370754.5_Missense_Mutation_p.R2009H|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.R1831H|DST_ENST00000370788.2_Intron			Q03001	DYST_HUMAN	dystonin	1831					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TACAGTTAAACGCTTGGCAGG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	61	61			NA	NA	6		NA											NA				56473301		1911	4127	6038	SO:0001583	missense			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914	667	667		EF-hand domain containing	1090	protein-coding gene	gene with protein product		113810	bullous pemphigoid antigen 1, 230/240kDa	BPAG1	NA	2461961, 2276744	Standard	NM_001723	NM_001144770	NA	Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.5492G>A	6.37:g.56473301C>T	ENSP00000354508:p.Arg1831His	NA	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	37		.	.	.	.	.	.	.	.	.	.	C	16.59	3.166951	0.57476	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	5.21	5.21	0.72293	.	0.000000	0.52532	D	0.000064	T	0.65037	0.2653	.	.	.	0.34191	D	0.672011	P	0.43607	0.812	B	0.41440	0.357	T	0.74352	-0.3693	8	0.87932	D	0	.	12.1534	0.54062	0.0:0.9201:0.0:0.0799	.	1505	Q03001-9	.	H	2009;1831;1505;1831;1831;1505	ENSP00000359790:R2009H;ENSP00000359805:R1831H;ENSP00000393645:R1505H;ENSP00000307959:R1831H;ENSP00000354508:R1831H;ENSP00000404924:R1505H	ENSP00000307959:R1831H	R	-	2	0	DST	56581260	0.996000	0.38824	0.275000	0.24674	0.979000	0.70002	3.817000	0.55668	2.584000	0.87258	0.455000	0.32223	CGT	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000041021.3		-	ENST00000361203.3	Missense_Mutation	SNP	6 : 56473301 - 56473301 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	160	27
CHRM5	1133	broad.mit.edu	37	15	34355538	34355538	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34355538C>A	ENST00000383263.5	+	3	1290	c.620C>A	c.(619-621)tCt>tAt	p.S207Y	CHRM5_ENST00000557872.1_Missense_Mutation_p.S207Y	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	207					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	ATCCCTGTTTCTGTCATGACC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													251	261	257			NA	NA	15		NA											NA				34355538		2201	4298	6499	SO:0001583	missense				CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984	NA	1133		Cholinergic receptors, GPCR / Class A : Cholinergic receptors, muscarinic	1954	protein-coding gene	gene with protein product	acetylcholine receptor, muscarinic 5	118496			NA		Standard		NM_012125	NA	Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.620C>A	15.37:g.34355538C>A	ENSP00000372750:p.Ser207Tyr	NA	Q96RG7	37	CCDS10031.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948850	0.73787	.	.	ENSG00000184984	ENST00000383263	T	0.38560	1.13	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	0.130454	0.53938	D	0.000044	T	0.68668	0.3026	M	0.83603	2.65	0.80722	D	1	D	0.71674	0.998	D	0.70227	0.968	T	0.72924	-0.4144	10	0.87932	D	0	-14.5017	19.1883	0.93653	0.0:1.0:0.0:0.0	.	207	P08912	ACM5_HUMAN	Y	207	ENSP00000372750:S207Y	ENSP00000372750:S207Y	S	+	2	0	CHRM5	32142830	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.764000	0.94973	0.650000	0.86243	TCT	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251521.2		+	ENST00000383263.5	Missense_Mutation	SNP	15 : 34355538 - 34355538 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1666	318
ITPRIP	85450	broad.mit.edu	37	10	106075312	106075312	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106075312G>T	ENST00000337478.1	-	2	669	c.498C>A	c.(496-498)ggC>ggA	p.G166G	ITPRIP_ENST00000358187.2_Silent_p.G166G|ITPRIP_ENST00000278071.2_Silent_p.G166G	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	166						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CATCCACGAAGCCTTCCAGGA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	56	55			NA	NA	10		NA											NA				106075312		2202	4300	6502	SO:0001819	synonymous_variant			AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841	85450	85450			29370	protein-coding gene	gene with protein product			KIAA1754, inositol 1,4,5-triphosphate receptor interacting protein	KIAA1754	NA	11214970, 16990268	Standard	NM_033397	NM_001272012	NA	Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.498C>A	10.37:g.106075312G>T		NA	D3DRA5|Q5JU17|Q96MS8|Q9C0A9	37	CCDS7557.1																																																																																			ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050204.1		-	ENST00000337478.1	Silent	SNP	10 : 106075312 - 106075312 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	506	84
KIF19	124602	broad.mit.edu	37	17	72339244	72339244	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72339244C>T	ENST00000389916.4	+	5	539	c.401C>T	c.(400-402)gCc>gTc	p.A134V		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	134	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CTCTTCCGTGCCATCGAGGAG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	77	85			NA	NA	17		NA											NA				72339244		2203	4300	6503	SO:0001583	missense			AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169	124602	124602		Kinesins	26735	protein-coding gene	gene with protein product					NA	11416179	Standard	NM_153209	NM_153209	NA	Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.401C>T	17.37:g.72339244C>T	ENSP00000374566:p.Ala134Val	NA	A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	37	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274337	0.59649	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.75260	-0.65;-0.92	5.48	4.51	0.55191	Kinesin, motor domain (4);	.	.	.	.	T	0.74390	0.3710	L	0.33137	0.985	0.58432	D	0.999995	P;D;P;P	0.60575	0.943;0.988;0.611;0.611	P;P;B;B	0.59643	0.811;0.861;0.219;0.408	T	0.69617	-0.5097	9	0.17369	T	0.5	.	13.3003	0.60321	0.0:0.9221:0.0:0.0779	.	134;134;134;134	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	V	134	ENSP00000449134:A134V;ENSP00000374566:A134V	ENSP00000374566:A134V	A	+	2	0	KIF19	69850839	1.000000	0.71417	0.943000	0.38184	0.254000	0.26022	5.590000	0.67530	1.342000	0.45619	-0.265000	0.10407	GCC	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319644.2		+	ENST00000389916.4	Missense_Mutation	SNP	17 : 72339244 - 72339244 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	175	9
ARHGAP28	79822	broad.mit.edu	37	18	6837372	6837372	+	Missense_Mutation	SNP	A	A	G	rs2303978		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6837372A>G	ENST00000419673.2	+	2	242	c.25A>G	c.(25-27)Atc>Gtc	p.I9V	ARHGAP28_ENST00000531294.1_Missense_Mutation_p.I9V|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.I9V|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.I9V|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.I168V|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.I168V|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.I116V	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	0					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				TAAGCAATCTATCAGGGATGT	0.468		NA											A	4	0.0018	NA	NA	2184	0.01	1	,	,	NA	3e-04	NA	NA	NA	0.0018	1	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0													111	102	105			NA	NA	18		NA											NA				6837372		2203	4300	6503	SO:0001583	missense			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756	79822	79822		Rho GTPase activating proteins	25509	protein-coding gene	gene with protein product		610592			NA	10718198	Standard	XM_371108	NM_001010000	NA	Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000419673.2:c.25A>G	18.37:g.6837372A>G	ENSP00000392660:p.Ile9Val	NA		37	CCDS32785.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	A	0.008	-1.907140	0.00512	.	.	ENSG00000088756	ENST00000400091;ENST00000532723;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986	T;T;T;T;T;T;T	0.19938	2.11;2.26;2.11;3.46;3.46;3.46;3.39	5.65	0.755	0.18415	.	0.444690	0.26297	N	0.025190	T	0.03608	0.0103	N	0.01209	-0.955	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.41980	-0.9478	10	0.02654	T	1	.	10.7975	0.46470	0.3132:0.0:0.6868:0.0	rs2303978;rs52829196;rs2303978	9;116	F6VKJ9;Q9P2N2-2	.;.	V	168;116;116;9;9;9;9	ENSP00000382963:I168V;ENSP00000433390:I116V;ENSP00000262227:I116V;ENSP00000392660:I9V;ENSP00000437262:I9V;ENSP00000313506:I9V;ENSP00000406907:I9V	ENSP00000262227:I116V	I	+	1	0	ARHGAP28	6827372	0.175000	0.23083	0.002000	0.10522	0.206000	0.24218	0.912000	0.28597	-0.069000	0.12931	-0.766000	0.03442	ATC	ARHGAP28-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395706.1		+	ENST00000419673.2	Missense_Mutation	SNP	18 : 6837372 - 6837372 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	61
KRT74	121391	broad.mit.edu	37	12	52964527	52964527	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52964527C>T	ENST00000549343.1	-	5	972	c.934G>A	c.(934-936)Gct>Act	p.A312T	KRT74_ENST00000305620.2_Missense_Mutation_p.A312T			Q7RTS7	K2C74_HUMAN	keratin 74	312	Coil 2.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CGGACCTCAGCGATGATGCTG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	97	107			NA	NA	12		NA											NA				52964527		2203	4300	6503	SO:0001583	missense			BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484	121391	121391		-, Intermediate filaments type II, keratins (basic)	28929	protein-coding gene	gene with protein product		608248			NA	12648212, 16831889	Standard	NM_175053	NM_175053	NA	Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000549343.1:c.934G>A	12.37:g.52964527C>T	ENSP00000447447:p.Ala312Thr	NA	B5MD61|Q86Y45	37		.	.	.	.	.	.	.	.	.	.	C	9.264	1.044029	0.19748	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	D;D	0.89343	-2.5;-2.5	4.49	-5.18	0.02840	Filament (1);	1.291780	0.05733	N	0.599964	D	0.86948	0.6056	M	0.83223	2.63	0.09310	N	1	B	0.21606	0.058	B	0.18263	0.021	T	0.72659	-0.4226	10	0.72032	D	0.01	.	5.0395	0.14452	0.0934:0.2911:0.0922:0.5233	.	312	Q7RTS7	K2C74_HUMAN	T	312	ENSP00000447447:A312T;ENSP00000307240:A312T	ENSP00000307240:A312T	A	-	1	0	KRT74	51250794	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-1.364000	0.02590	-1.384000	0.02103	-0.182000	0.12963	GCT	KRT74-003	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000405323.1		-	ENST00000549343.1	Missense_Mutation	SNP	12 : 52964527 - 52964527 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	274	33
DHH	50846	broad.mit.edu	37	12	49485151	49485151	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49485151C>T	ENST00000266991.2	-	2	631	c.325G>A	c.(325-327)Gct>Act	p.A109T	RP11-386G11.8_ENST00000553174.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	109					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			breast(1)|large_intestine(3)|lung(4)	8						ATGGCCAAAGCGTTCACCCGC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	67	73			NA	NA	12		NA											NA				49485151		2203	4300	6503	SO:0001583	missense			AB010994	CCDS8779.1	12q13.1	2010-06-24	2010-06-24			ENSG00000139549	50846	50846			2865	protein-coding gene	gene with protein product		605423	desert hedgehog (Drosophila) homolog		NA	10773676, 10640830	Standard	NM_021044	NM_021044	NA	Approved	HHG-3, MGC35145	uc001rtf.3	O43323	OTTHUMG00000170408	ENST00000266991.2:c.325G>A	12.37:g.49485151C>T	ENSP00000266991:p.Ala109Thr	NA	Q15794	37	CCDS8779.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.980759	0.34942	.	.	ENSG00000139549	ENST00000266991	D	0.99418	-5.87	5.12	5.12	0.69794	Hedgehog/DD-peptidase (2);Hedgehog, N-terminal signaling domain (1);	0.173927	0.50627	D	0.000109	D	0.96027	0.8706	N	0.00873	-1.125	0.46954	D	0.99926	D	0.67145	0.996	P	0.47705	0.555	D	0.95758	0.8798	10	0.08381	T	0.77	0.4377	17.7162	0.88337	0.0:1.0:0.0:0.0	.	109	O43323	DHH_HUMAN	T	109	ENSP00000266991:A109T	ENSP00000266991:A109T	A	-	1	0	DHH	47771418	0.993000	0.37304	0.998000	0.56505	0.593000	0.36681	1.178000	0.31981	2.564000	0.86499	0.650000	0.86243	GCT	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408973.1		-	ENST00000266991.2	Missense_Mutation	SNP	12 : 49485151 - 49485151 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	212	40
NLRP10	338322	broad.mit.edu	37	11	7982118	7982118	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7982118G>A	ENST00000328600.2	-	2	1202	c.1041C>T	c.(1039-1041)ctC>ctT	p.L347L		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	347	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACGCTTTGTAGAGAATGTCAT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	81	84			NA	NA	11		NA											NA				7982118		2201	4296	6497	SO:0001819	synonymous_variant			AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261	338322	338322		Nucleotide-binding domain and leucine rich repeat containing	21464	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10	609662	NACHT, leucine rich repeat and PYD containing 10	NALP10	NA	12563287	Standard	NM_176821	NM_176821	NA	Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1041C>T	11.37:g.7982118G>A		NA	Q2M3C4|Q6JGT0	37	CCDS7784.1																																																																																			NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385705.1		-	ENST00000328600.2	Silent	SNP	11 : 7982118 - 7982118 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	448	26
TGM4	7047	broad.mit.edu	37	3	44943361	44943361	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44943361G>A	ENST00000296125.4	+	8	977	c.909G>A	c.(907-909)acG>acA	p.T303T		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	303					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.T303T(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GGAACCTCACGGTGGACACCT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											127	117	121			NA	NA	3		NA											NA				44943361		2203	4300	6503	SO:0001819	synonymous_variant			BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	7047	7047	2.3.2.13	Transglutaminases	11780	protein-coding gene	gene with protein product		600585	transglutaminase 4 (prostate)		NA	7665178, 7916568	Standard	NM_003241	NM_003241	NA	Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.909G>A	3.37:g.44943361G>A		NA	Q16707|Q96QN4	37	CCDS2723.1																																																																																			TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256755.2		+	ENST00000296125.4	Silent	SNP	3 : 44943361 - 44943361 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	280	50
PDGFRA	5156	broad.mit.edu	37	4	55156639	55156639	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55156639G>A	ENST00000257290.5	+	22	3371	c.3040G>A	c.(3040-3042)Gct>Act	p.A1014T	FIP1L1_ENST00000507166.1_Missense_Mutation_p.A774T	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1014					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.A1014_S1016delADS(2)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GAGACTGAGCGCTGACAGTGG	0.557		NA	Mis, O, T	FIP1L1	GIST, idiopathic hypereosinophilic syndrome, paediatric GBM				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(151;208 1913 7310 23853 37092)		Dom	yes		4	4q11-q13	5156	platelet-derived growth factor, alpha-receptor		L, M, O	2	Deletion - In frame(2)	liver(2)											189	156	167			NA	NA	4		NA											NA				55156639		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853	5156	5156		CD molecules, Immunoglobulin superfamily / I-set domain containing	8803	protein-coding gene	gene with protein product		173490			NA		Standard	NM_006206	NM_006206	NA	Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.3040G>A	4.37:g.55156639G>A	ENSP00000257290:p.Ala1014Thr	NA	B2RE69|Q96KZ7|Q9UD28	37	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123092	0.56613	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	T;T	0.77229	-1.08;-0.9	5.93	5.08	0.68730	.	0.000000	0.31976	U	0.006774	T	0.60792	0.2296	L	0.36672	1.1	0.80722	D	1	P	0.40360	0.714	B	0.24541	0.054	T	0.62058	-0.6934	10	0.11182	T	0.66	.	14.5376	0.67971	0.0697:0.0:0.9303:0.0	.	1014	P16234	PGFRA_HUMAN	T	774;1014	ENSP00000423325:A774T;ENSP00000257290:A1014T	ENSP00000423325:A774T	A	+	1	0	FIP1L1;PDGFRA	54851396	1.000000	0.71417	0.854000	0.33618	0.934000	0.57294	5.717000	0.68446	2.814000	0.96858	0.563000	0.77884	GCT	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250598.2		+	ENST00000257290.5	Missense_Mutation	SNP	4 : 55156639 - 55156639 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	592	116
CLEC12B	387837	broad.mit.edu	37	12	10167267	10167267	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10167267G>T	ENST00000396502.1	+	3	464	c.336G>T	c.(334-336)caG>caT	p.Q112H	CLEC12B_ENST00000338896.5_Missense_Mutation_p.Q112H	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	112						integral to membrane|plasma membrane	receptor activity|sugar binding			central_nervous_system(2)|large_intestine(2)|lung(5)	9						TCAAGTCACAGATCTCCAGTG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	92	94			NA	NA	12		NA											NA				10167267		2203	4300	6503	SO:0001583	missense			AK128243	CCDS8610.1, CCDS44830.1	12p13.2	2010-08-17			ENSG00000256660	ENSG00000256660	387837	387837		C-type lectin domain containing	31966	protein-coding gene	gene with protein product					NA	17562706	Standard	NM_205852	NM_205852	NA	Approved		uc001qwz.2	Q2HXU8	OTTHUMG00000168397	ENST00000396502.1:c.336G>T	12.37:g.10167267G>T	ENSP00000379759:p.Gln112His	NA	Q6UWF2|Q6ZRG0	37	CCDS8610.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.467313	0.43839	.	.	ENSG00000256660	ENST00000396502;ENST00000338896	T;T	0.17854	2.25;2.25	4.13	0.963	0.19649	C-type lectin fold (1);Ly49-like N-terminal (1);	0.508822	0.16725	N	0.202096	T	0.20700	0.0498	M	0.77313	2.365	0.22982	N	0.998474	P;P	0.36789	0.57;0.514	B;B	0.43990	0.438;0.311	T	0.12578	-1.0542	10	0.17832	T	0.49	.	3.235	0.06761	0.2275:0.0:0.5672:0.2053	.	112;112	Q2HXU8;Q2HXU8-2	CL12B_HUMAN;.	H	112	ENSP00000379759:Q112H;ENSP00000344563:Q112H	ENSP00000344563:Q112H	Q	+	3	2	CLEC12B	10058534	1.000000	0.71417	0.932000	0.37286	0.819000	0.46315	1.450000	0.35134	0.477000	0.27464	0.462000	0.41574	CAG	CLEC12B-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399561.1		+	ENST00000396502.1	Missense_Mutation	SNP	12 : 10167267 - 10167267 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	60
SGK2	10110	broad.mit.edu	37	20	42208675	42208675	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42208675C>T	ENST00000373100.1	+	13	1373	c.913C>T	c.(913-915)Cta>Tta	p.L305L	SGK2_ENST00000373092.3_Silent_p.L305L|SGK2_ENST00000426287.1_Silent_p.L331L|SGK2_ENST00000423407.3_Silent_p.L305L|SGK2_ENST00000373077.1_Silent_p.L304L|SGK2_ENST00000341458.4_Silent_p.L365L			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	365	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCACAAGAGGCTAACTCCACC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	112	117			NA	NA	20		NA											NA				42208675		2203	4300	6503	SO:0001819	synonymous_variant			AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049	10110	10110			13900	protein-coding gene	gene with protein product		607589			NA	10548550	Standard		NM_016276	NA	Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000373100.1:c.913C>T	20.37:g.42208675C>T		NA	Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	37	CCDS13321.1																																																																																			SGK2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080386.1		+	ENST00000373100.1	Silent	SNP	20 : 42208675 - 42208675 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	344	58
PDE6B	5158	broad.mit.edu	37	4	649781	649781	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:649781G>A	ENST00000255622.6	+	7	1088	c.1045G>A	c.(1045-1047)Gca>Aca	p.A349T	PDE6B_ENST00000496514.1_Missense_Mutation_p.A349T|PDE6B_ENST00000429163.2_Missense_Mutation_p.A70T	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	349	GAF 2.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						AAGCTACGTGGCAGAAAGCGG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(71;463 1194 9848 25922 46834)							NA				0													96	82	87			NA	NA	4		NA											NA				649781		2203	4300	6503	SO:0001583	missense			BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	5158	5158	3.1.4.17	Phosphodiesterases	8786	protein-coding gene	gene with protein product	congenital stationary night blindness 3, autosomal dominant	180072		PDEB	NA	1313787	Standard	NM_000283	NM_001145292	NA	Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000255622.6:c.1045G>A	4.37:g.649781G>A	ENSP00000255622:p.Ala349Thr	NA	Q53XN5|Q9BWH5|Q9UD49	37	CCDS54703.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098517	0.94197	.	.	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000487902;ENST00000429163	T;T;T;T	0.76186	-0.47;-0.47;-1.0;-0.47	4.94	4.94	0.65067	GAF (2);	0.000000	0.85682	D	0.000000	D	0.87920	0.6299	M	0.92555	3.32	0.80722	D	1	P;P	0.50369	0.934;0.919	P;P	0.59643	0.861;0.783	D	0.90962	0.4813	10	0.87932	D	0	.	15.6552	0.77129	0.0:0.0:1.0:0.0	.	349;349	P35913;P35913-2	PDE6B_HUMAN;.	T	349;349;70;70	ENSP00000255622:A349T;ENSP00000420295:A349T;ENSP00000418256:A70T;ENSP00000406334:A70T	ENSP00000255622:A349T	A	+	1	0	PDE6B	639781	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	9.409000	0.97331	2.275000	0.75901	0.561000	0.74099	GCA	PDE6B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358108.1		+	ENST00000255622.6	Missense_Mutation	SNP	4 : 649781 - 649781 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	57
PLXNA1	5361	broad.mit.edu	37	3	126741119	126741119	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126741119G>T	ENST00000393409.2	+	21	4230	c.4230G>T	c.(4228-4230)caG>caT	p.Q1410H	PLXNA1_ENST00000251772.4_Missense_Mutation_p.Q1387H	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1410					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGCTCAAGCAGCTGCTTTCCG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	61	61			NA	NA	3		NA											NA				126741119		2203	4300	6503	SO:0001583	missense			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554	5361	5361		Plexins	9099	protein-coding gene	gene with protein product		601055		PLXN1	NA	8570614	Standard	NM_032242	NM_032242	NA	Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.4230G>T	3.37:g.126741119G>T	ENSP00000377061:p.Gln1410His	NA		37	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	15.83	2.950038	0.53186	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.17691	2.26;2.26	3.36	3.36	0.38483	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.098879	0.43919	D	0.000501	T	0.19525	0.0469	L	0.39467	1.215	0.80722	D	1	B	0.21309	0.054	B	0.33254	0.16	T	0.14755	-1.0461	10	0.52906	T	0.07	.	16.0072	0.80372	0.0:0.0:1.0:0.0	.	1410	Q9UIW2	PLXA1_HUMAN	H	1410;1387	ENSP00000377061:Q1410H;ENSP00000251772:Q1387H	ENSP00000251772:Q1387H	Q	+	3	2	PLXNA1	128223809	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	5.379000	0.66196	2.177000	0.69029	0.467000	0.42956	CAG	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356451.1		+	ENST00000393409.2	Missense_Mutation	SNP	3 : 126741119 - 126741119 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	169	35
GLT6D1	360203	broad.mit.edu	37	9	138516299	138516299	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138516299C>T	ENST00000371763.1	-	5	728	c.475G>A	c.(475-477)Gcc>Acc	p.A159T		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	159					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	p.A159T(1)		endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		ATGTGACTGGCGATGTGTTCA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											44	46	45			NA	NA	9		NA											NA				138516299		1995	4161	6156	SO:0001583	missense			AY336054	CCDS43900.1	9q34.3	2013-02-22	2004-09-16	2004-09-17	ENSG00000204007	ENSG00000204007	360203	360203		Glycosyltransferase family 6 domain containing	23671	protein-coding gene	gene with protein product		613699	galactosyltransferase family 6 domain containing 1	GLTDC1	NA		Standard	NM_182974	NM_182974	NA	Approved		uc010nbd.1	Q7Z4J2	OTTHUMG00000020911	ENST00000371763.1:c.475G>A	9.37:g.138516299C>T	ENSP00000360829:p.Ala159Thr	NA		37	CCDS43900.1	.	.	.	.	.	.	.	.	.	.	C	0.086	-1.175931	0.01646	.	.	ENSG00000204007	ENST00000371763	T	0.01246	5.11	3.49	-6.99	0.01605	.	2.131500	0.02486	N	0.088984	T	0.01421	0.0046	L	0.41492	1.28	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43925	-0.9361	10	0.11182	T	0.66	-4.1633	6.7334	0.23395	0.1521:0.4874:0.2584:0.1022	.	159	Q7Z4J2	GL6D1_HUMAN	T	159	ENSP00000360829:A159T	ENSP00000360829:A159T	A	-	1	0	GLT6D1	137656120	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.909000	0.04058	-4.466000	0.00047	-1.708000	0.00717	GCC	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055005.2		-	ENST00000371763.1	Missense_Mutation	SNP	9 : 138516299 - 138516299 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	10
SLC17A5	26503	broad.mit.edu	37	6	74325115	74325115	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74325115G>T	ENST00000355773.5	-	8	1302	c.1034C>A	c.(1033-1035)tCt>tAt	p.S345Y	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	345					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGCTTGACCAGACAGGATCAT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	94	96			NA	NA	6		NA											NA				74325115		2203	4300	6503	SO:0001583	missense			AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899	26503	26503		Solute carriers	10933	protein-coding gene	gene with protein product		604322	sialic acid storage disease, solute carrier family 17 (anion/sugar transporter), member 5	SIASD	NA	10581036, 8198127	Standard		NM_012434	NA	Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.1034C>A	6.37:g.74325115G>T	ENSP00000348019:p.Ser345Tyr	NA	Q5SZ76|Q8NBR5|Q9UGH0	37	CCDS4981.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.627768	0.46944	.	.	ENSG00000119899	ENST00000355773	T	0.59364	0.27	4.83	3.94	0.45596	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.372016	0.29767	N	0.011245	T	0.57799	0.2078	L	0.51422	1.61	0.80722	D	1	P;P	0.51791	0.843;0.948	P;P	0.60345	0.873;0.815	T	0.61382	-0.7074	10	0.51188	T	0.08	.	14.6465	0.68764	0.0:0.1519:0.8481:0.0	.	407;345	E1P537;Q9NRA2	.;S17A5_HUMAN	Y	345	ENSP00000348019:S345Y	ENSP00000348019:S345Y	S	-	2	0	SLC17A5	74381836	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.192000	0.58378	0.980000	0.38523	0.561000	0.74099	TCT	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041228.1		-	ENST00000355773.5	Missense_Mutation	SNP	6 : 74325115 - 74325115 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	53
MYO5C	55930	broad.mit.edu	37	15	52539194	52539194	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52539194G>T	ENST00000261839.7	-	16	2060	c.1899C>A	c.(1897-1899)taC>taA	p.Y633*	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	633	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CCATGAGCAAGTACAGAGAGC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	115	116			NA	NA	15		NA											NA				52539194		2007	4173	6180	SO:0001587	stop_gained			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833	55930	55930		Myosins / Myosin superfamily : Class V	7604	protein-coding gene	gene with protein product	myosin 5C	610022			NA	11870218	Standard	NM_018728	NM_018728	NA	Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.1899C>A	15.37:g.52539194G>T	ENSP00000261839:p.Tyr633*	NA		37	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	G	40	7.983179	0.98594	.	.	ENSG00000128833	ENST00000261839	.	.	.	5.27	4.12	0.48240	.	0.660669	0.15813	N	0.243391	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.7352	0.23405	0.2559:0.0:0.7441:0.0	.	.	.	.	X	633	.	ENSP00000261839:Y633X	Y	-	3	2	MYO5C	50326486	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	1.936000	0.40183	2.628000	0.89032	0.561000	0.74099	TAC	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419562.1		-	ENST00000261839.7	Nonsense_Mutation	SNP	15 : 52539194 - 52539194 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	385	59
RNPEP	6051	broad.mit.edu	37	1	201972481	201972481	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201972481G>A	ENST00000295640.4	+	9	1586	c.1543G>A	c.(1543-1545)Gag>Aag	p.E515K	RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000471105.1_3'UTR|RNPEP_ENST00000367286.3_Missense_Mutation_p.E476K	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	515					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GTGGGCAGCCGAGGAGCTGGA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(19;39 479 7473 13131 19462)							NA				0								G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	74	63	67		1543	-3.7	0	1		67	0,8600		0,0,4300	no	missense	RNPEP	NM_020216.3	56	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	benign	515/651	201972481	1,13005	2203	4300	6503	SO:0001583	missense			BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	6051	6051	3.4.11.6		10078	protein-coding gene	gene with protein product		602675			NA	9533033, 10467730	Standard	NM_020216	NM_020216	NA	Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.1543G>A	1.37:g.201972481G>A	ENSP00000295640:p.Glu515Lys	NA	Q9BVM9|Q9H1D4|Q9NPT7	37	CCDS1418.1	.	.	.	.	.	.	.	.	.	.	G	0.219	-1.030092	0.02045	2.27E-4	0.0	ENSG00000176393	ENST00000295640;ENST00000367286	T;T	0.39787	1.06;1.06	5.33	-3.72	0.04411	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);	1.082770	0.06964	N	0.816941	T	0.15998	0.0385	N	0.12182	0.205	0.09310	N	1	B;B	0.20052	0.041;0.016	B;B	0.20955	0.032;0.032	T	0.22941	-1.0202	10	0.06757	T	0.87	-6.6993	0.4726	0.00534	0.3803:0.2115:0.1831:0.2251	.	523;515	Q7RU04;Q9H4A4	.;AMPB_HUMAN	K	515;476	ENSP00000295640:E515K;ENSP00000356255:E476K	ENSP00000295640:E515K	E	+	1	0	RNPEP	200239104	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	-0.531000	0.06171	-0.692000	0.05128	0.561000	0.74099	GAG	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087345.1		+	ENST00000295640.4	Missense_Mutation	SNP	1 : 201972481 - 201972481 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	246	69
ANKRD50	57182	broad.mit.edu	37	4	125590747	125590747	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:125590747G>A	ENST00000504087.1	-	4	4722	c.3685C>T	c.(3685-3687)Cga>Tga	p.R1229*	ANKRD50_ENST00000515641.1_Nonsense_Mutation_p.R1050*	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1229	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ATTGACTGTCGACTTCTACTG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													204	196	199			NA	NA	4		NA											NA				125590747		2203	4300	6503	SO:0001587	stop_gained			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458	57182	57182		Ankyrin repeat domain containing	29223	protein-coding gene	gene with protein product					NA		Standard	NM_020337	NM_020337	NA	Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3685C>T	4.37:g.125590747G>A	ENSP00000425658:p.Arg1229*	NA	A8K4V3|Q6N064|Q6ZSE6	37	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	49	15.225748	0.99827	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	.	.	.	5.36	3.43	0.39272	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0537	0.58967	0.0:0.0:0.609:0.391	.	.	.	.	X	1229;1050	.	ENSP00000425658:R1229X	R	-	1	2	ANKRD50	125810197	1.000000	0.71417	0.961000	0.40146	0.955000	0.61496	2.587000	0.46128	1.436000	0.47453	0.561000	0.74099	CGA	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364775.1		-	ENST00000504087.1	Nonsense_Mutation	SNP	4 : 125590747 - 125590747 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1335	246
MX2	4600	broad.mit.edu	37	21	42748845	42748845	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:42748845C>A	ENST00000330714.3	+	2	196	c.12C>A	c.(10-12)gcC>gcA	p.A4A	MX2_ENST00000543692.1_Silent_p.A4A	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	4					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TGTCTAAGGCCCACAAGCCTT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	72	71			NA	NA	21		NA											NA				42748845		2203	4300	6503	SO:0001819	synonymous_variant				CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486	4600	4600			7533	protein-coding gene	gene with protein product	interferon-regulated resistance GTP-binding protein MXB, second interferon-induced protein p78	147890	myxovirus (influenza) resistance 2, homolog of murine, myxovirus (influenza virus) resistance 2 (mouse)		NA	2481229, 8798556	Standard	NM_002463	NM_002463	NA	Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.12C>A	21.37:g.42748845C>A		NA	D3DSI7	37	CCDS13672.1																																																																																			MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195147.1		+	ENST00000330714.3	Silent	SNP	21 : 42748845 - 42748845 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	510	91
OR2T33	391195	broad.mit.edu	37	1	248436839	248436839	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248436839G>T	ENST00000318021.2	-	1	299	c.278C>A	c.(277-279)gCt>gAt	p.A93D		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACCACAGCCAGCGCGGGAGAT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	67	69			NA	NA	1		NA											NA				248436839		2203	4297	6500	SO:0001583	missense				CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212	391195	391195		GPCR / Class A : Olfactory receptors	31255	protein-coding gene	gene with protein product					NA		Standard	NM_001004695	NM_001004695	NA	Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.278C>A	1.37:g.248436839G>T	ENSP00000324687:p.Ala93Asp	NA	B2RNN0	37	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	10.28	1.307644	0.23821	.	.	ENSG00000177212	ENST00000318021	T	0.00397	7.57	2.7	2.7	0.31948	GPCR, rhodopsin-like superfamily (1);	0.230385	0.21954	U	0.066696	T	0.00666	0.0022	M	0.70275	2.135	0.09310	N	1	D	0.56287	0.975	P	0.60345	0.873	T	0.46992	-0.9151	10	0.56958	D	0.05	.	10.2203	0.43192	0.0:0.0:0.8002:0.1997	.	93	Q8NG76	O2T33_HUMAN	D	93	ENSP00000324687:A93D	ENSP00000324687:A93D	A	-	2	0	OR2T33	246503462	0.000000	0.05858	0.014000	0.15608	0.002000	0.02628	-0.134000	0.10436	1.437000	0.47472	0.494000	0.49563	GCT	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097354.1		-	ENST00000318021.2	Missense_Mutation	SNP	1 : 248436839 - 248436839 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1636	117
FLNA	2316	broad.mit.edu	37	X	153592426	153592426	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153592426G>T	ENST00000344736.4	-	14	2286	c.2244C>A	c.(2242-2244)tcC>tcA	p.S748S	FLNA_ENST00000369850.3_Silent_p.S748S|FLNA_ENST00000422373.1_Silent_p.S748S|FLNA_ENST00000360319.4_Silent_p.S748S			P21333	FLNA_HUMAN	filamin A, alpha	748					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGCCTCCCCAGGACACCATGG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	90	87			NA	NA	X		NA											NA				153592426		2079	4189	6268	SO:0001819	synonymous_variant			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924	NA	2316			3754	protein-coding gene	gene with protein product	actin binding protein 280	300017	filamin A, alpha (actin binding protein 280)	FLN1, FLN, OPD2, OPD1	NA	8406501, 12612583	Standard		NM_001456	NA	Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000344736.4:c.2244C>A	X.37:g.153592426G>T		NA	Q5HY53|Q5HY55|Q8NF52	37																																																																																				FLNA-010	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000130295.1		-	ENST00000344736.4	Silent	SNP	X : 153592426 - 153592426 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	604	147
PIGS	94005	broad.mit.edu	37	17	26888486	26888486	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26888486C>A	ENST00000308360.7	-	6	1005	c.630G>T	c.(628-630)gaG>gaT	p.E210D	PIGS_ENST00000395346.2_Missense_Mutation_p.E202D|PIGS_ENST00000543734.1_Missense_Mutation_p.E149D|PIGS_ENST00000465444.1_5'UTR	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	210					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					TCCACTTGTCCTCTGGAAGGT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	60	65			NA	NA	17		NA											NA				26888486		2203	4300	6503	SO:0001583	missense				CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111	94005	94005		Phosphatidylinositol glycan anchor biosynthesis	14937	protein-coding gene	gene with protein product	GPI transamidase subunit	610271	phosphatidylinositol glycan, class S		NA		Standard	NM_033198	NM_033198	NA	Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.630G>T	17.37:g.26888486C>A	ENSP00000309430:p.Glu210Asp	NA	Q6UVX6	37	CCDS11235.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.062502	0.36373	.	.	ENSG00000087111	ENST00000395346;ENST00000308360;ENST00000543734	T;T;T	0.45276	0.9;0.9;0.9	5.68	2.66	0.31614	.	0.475758	0.25750	N	0.028551	T	0.22282	0.0537	N	0.20685	0.6	0.27407	N	0.954689	B;B	0.15930	0.015;0.012	B;B	0.13407	0.009;0.005	T	0.14364	-1.0475	10	0.22109	T	0.4	-26.0276	4.72	0.12913	0.2364:0.5327:0.0:0.2309	.	210;202	Q96S52;Q96S52-2	PIGS_HUMAN;.	D	202;210;149	ENSP00000378755:E202D;ENSP00000309430:E210D;ENSP00000438447:E149D	ENSP00000309430:E210D	E	-	3	2	PIGS	23912613	0.957000	0.32711	1.000000	0.80357	0.996000	0.88848	0.682000	0.25335	0.356000	0.24157	-0.136000	0.14681	GAG	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255833.3		-	ENST00000308360.7	Missense_Mutation	SNP	17 : 26888486 - 26888486 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	215	9
ADAD1	132612	broad.mit.edu	37	4	123302264	123302264	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123302264C>T	ENST00000388725.2	+	3	432	c.236C>T	c.(235-237)cCt>cTt	p.P79L	ADAD1_ENST00000388724.2_Missense_Mutation_p.P97L|ADAD1_ENST00000296513.2_Missense_Mutation_p.P97L|ADAD1_ENST00000492454.1_3'UTR	NM_001159295.1	NP_001152767.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	97					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						GAGATAAATCCTGTGTCAGCC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	101	98			NA	NA	4		NA											NA				123302264		2203	4300	6503	SO:0001583	missense			AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113	132612	132612			30713	protein-coding gene	gene with protein product		614130			NA	7543294, 9541871	Standard	NM_139243	NM_139243	NA	Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000388725.2:c.236C>T	4.37:g.123302264C>T	ENSP00000373377:p.Pro79Leu	NA	A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	37	CCDS54801.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.278034	0.80692	.	.	ENSG00000164113	ENST00000446706;ENST00000296513;ENST00000439307;ENST00000388724;ENST00000388725	T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48	5.23	4.37	0.52481	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.058440	0.64402	D	0.000001	D	0.88897	0.6562	M	0.81682	2.555	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.968;0.981	D	0.90180	0.4242	10	0.87932	D	0	-17.469	13.1832	0.59666	0.0:0.9193:0.0:0.0807	.	97;97	Q96M93-2;Q96M93	.;ADAD1_HUMAN	L	97;97;97;97;79	ENSP00000390510:P97L;ENSP00000296513:P97L;ENSP00000397254:P97L;ENSP00000373376:P97L;ENSP00000373377:P79L	ENSP00000296513:P97L	P	+	2	0	ADAD1	123521714	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	6.958000	0.76025	2.423000	0.82170	0.563000	0.77884	CCT	ADAD1-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316454.1		+	ENST00000388725.2	Missense_Mutation	SNP	4 : 123302264 - 123302264 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	610	92
AHDC1	27245	broad.mit.edu	37	1	27877908	27877908	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27877908G>A	ENST00000247087.5	-	5	1315	c.719C>T	c.(718-720)gCt>gTt	p.A240V	AHDC1_ENST00000374011.2_Missense_Mutation_p.A240V			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	240	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GTCGGCGTCAGCAAGTTCTGA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	47	45			NA	NA	1		NA											NA				27877908		2203	4300	6503	SO:0001583	missense			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705	27245	27245			25230	protein-coding gene	gene with protein product		615790			NA	8619474, 9110174	Standard		XM_005245848	NA	Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.719C>T	1.37:g.27877908G>A	ENSP00000247087:p.Ala240Val	NA	Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	37	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110079	0.77210	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.49139	0.79;0.79	5.16	4.24	0.50183	.	0.000000	0.34314	U	0.004067	T	0.30885	0.0779	N	0.19112	0.55	0.36790	D	0.884808	B	0.26602	0.154	B	0.20955	0.032	T	0.36163	-0.9759	10	0.56958	D	0.05	-6.5369	10.2596	0.43419	0.0938:0.0:0.9062:0.0	.	240	Q5TGY3	AHDC1_HUMAN	V	240	ENSP00000247087:A240V;ENSP00000363123:A240V	ENSP00000247087:A240V	A	-	2	0	AHDC1	27750495	0.998000	0.40836	0.581000	0.28614	0.797000	0.45037	3.824000	0.55723	2.407000	0.81776	0.467000	0.42956	GCT	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000009523.3		-	ENST00000247087.5	Missense_Mutation	SNP	1 : 27877908 - 27877908 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	56
PALM	5064	broad.mit.edu	37	19	746591	746591	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:746591C>T	ENST00000264560.7	+	8	1003	c.809C>T	c.(808-810)aCc>aTc	p.T270I	PALM_ENST00000338448.5_Missense_Mutation_p.T314I|PALM_ENST00000593172.1_3'UTR	NM_001040134.1	NP_001035224.1	O75781	PALM_HUMAN	paralemmin	314					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		GAGGCCGAGACCAAGAAGGTG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	36	39			NA	NA	19		NA											NA				746591		2203	4300	6503	SO:0001583	missense			Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864	5064	5064			8594	protein-coding gene	gene with protein product		608134			NA	9615234, 9813098	Standard	NM_002579	XM_005259565	NA	Approved	KIAA0270	uc002lpm.1	O75781		ENST00000264560.7:c.809C>T	19.37:g.746591C>T	ENSP00000264560:p.Thr270Ile	NA	O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	37	CCDS32858.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751746	0.69533	.	.	ENSG00000099864	ENST00000338448;ENST00000264560;ENST00000538247	T;T	0.30182	1.54;1.54	4.92	1.25	0.21368	.	0.110204	0.64402	D	0.000010	T	0.51126	0.1656	M	0.77103	2.36	0.45762	D	0.99865	D;D	0.76494	0.999;0.999	D;D	0.73708	0.968;0.981	T	0.53655	-0.8408	10	0.87932	D	0	-25.5817	10.0812	0.42391	0.1401:0.5653:0.2946:0.0	.	270;314	O75781-2;O75781	.;PALM_HUMAN	I	314;270;179	ENSP00000341911:T314I;ENSP00000264560:T270I	ENSP00000264560:T270I	T	+	2	0	PALM	697591	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	3.710000	0.54860	0.444000	0.26612	0.462000	0.41574	ACC	PALM-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457591.1		+	ENST00000264560.7	Missense_Mutation	SNP	19 : 746591 - 746591 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	254	39
ZNF578	147660	broad.mit.edu	37	19	53005079	53005079	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53005079G>T	ENST00000421239.2	+	4	225		c.e4-1			NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				NA				GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TCCACATACAGGATTGATTTC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	158	156			NA	NA	19		NA											NA				53005079		2203	4300	6503	SO:0001630	splice_region_variant			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405	147660	147660		Zinc fingers, C2H2-type, -	26449	protein-coding gene	gene with protein product					NA		Standard	NM_152472	NM_001099694	NA	Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.-19-1G>T	19.37:g.53005079G>T		NA		37	CCDS54310.1																																																																																			ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344298.3	Intron	+	ENST00000421239.2	Splice_Site	SNP	19 : 53005079 - 53005079 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	422	78
OR13A1	79290	broad.mit.edu	37	10	45799016	45799016	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:45799016G>A	ENST00000553795.1	-	4	1163	c.855C>T	c.(853-855)agC>agT	p.S285S	OR13A1_ENST00000374401.2_Silent_p.S285S|OR13A1_ENST00000536058.1_Silent_p.S285S	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TCTTCCCTGCGCTGTAGCCAG	0.552		NA											c	1	5e-04	NA	0.0028	2184	NA	1	,	,	NA	2e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0								C		1,4405		0,1,2202	70	65	67		855	-2.4	0	10		67	0,8600		0,0,4300	no	coding-synonymous	OR13A1	NM_001004297.2		0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077		285/329	45799016	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574	79290	79290		GPCR / Class A : Olfactory receptors	14772	protein-coding gene	gene with protein product					NA		Standard	NM_001004297	NM_001004297	NA	Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.855C>T	10.37:g.45799016G>A		NA	Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	37	CCDS31188.1																																																																																			OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047779.2		-	ENST00000553795.1	Silent	SNP	10 : 45799016 - 45799016 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	56
PLCL1	5334	broad.mit.edu	37	2	198949647	198949647	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198949647G>A	ENST00000428675.1	+	2	1804	c.1406G>A	c.(1405-1407)cGa>cAa	p.R469Q	PLCL1_ENST00000437704.2_Missense_Mutation_p.R371Q	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	469	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.R371Q(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GTTTCCTTTCGAAGTGTCATA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											54	53	53			NA	NA	2		NA											NA				198949647		2203	4300	6503	SO:0001583	missense			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896	5334	5334			9063	protein-coding gene	gene with protein product	phospholipase C related, but catalytically inactive protein, protein phosphatase 1, regulatory subunit 127	600597	phospholipase C, epsilon	PLCE	NA	7633416	Standard	NM_006226	NM_006226	NA	Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1406G>A	2.37:g.198949647G>A	ENSP00000402861:p.Arg469Gln	NA	Q3MJ90|Q53SD3|Q7Z3S3	37	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	G	10.67	1.414630	0.25465	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.65178	-0.14;-0.14	5.94	1.98	0.26296	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.650704	0.14405	N	0.321604	T	0.46073	0.1374	L	0.48642	1.525	0.42717	D	0.993666	B;B	0.32604	0.377;0.254	B;B	0.28232	0.087;0.055	T	0.23619	-1.0183	9	.	.	.	.	2.9874	0.05972	0.2537:0.1133:0.5166:0.1164	.	469;395	Q15111;B4DYZ4	PLCL1_HUMAN;.	Q	469;371	ENSP00000402861:R469Q;ENSP00000414138:R371Q	.	R	+	2	0	PLCL1	198657892	1.000000	0.71417	0.990000	0.47175	0.980000	0.70556	2.506000	0.45433	0.083000	0.17047	0.561000	0.74099	CGA	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340210.1		+	ENST00000428675.1	Missense_Mutation	SNP	2 : 198949647 - 198949647 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	225	53
PIK3C2B	5287	broad.mit.edu	37	1	204429749	204429749	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204429749G>A	ENST00000367187.3	-	7	1907	c.1351C>T	c.(1351-1353)Cgc>Tgc	p.R451C	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R451C	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	451					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	p.R451C(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TCAAACTTGCGGCAGTATTGG	0.562		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)											153	120	131			NA	NA	1		NA											NA				204429749		2203	4300	6503	SO:0001583	missense			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	5287	5287	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	phosphoinositide-3-kinase, class 2, beta polypeptide		NA	9144573, 9830063	Standard	NM_002646	NM_002646	NA	Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.1351C>T	1.37:g.204429749G>A	ENSP00000356155:p.Arg451Cys	NA	O95666|Q5SW99	37	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524363	0.64747	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.61742	0.08;0.11	5.81	5.81	0.92471	Phosphoinositide 3-kinase, ras-binding (2);	0.297810	0.33023	N	0.005363	T	0.67767	0.2928	L	0.43923	1.385	0.48236	D	0.999613	D;D	0.89917	0.998;1.0	P;D	0.87578	0.827;0.998	T	0.66380	-0.5938	10	0.46703	T	0.11	.	12.5393	0.56161	0.0:0.0:0.8338:0.1662	.	451;451	F5GWN5;O00750	.;P3C2B_HUMAN	C	451	ENSP00000356155:R451C;ENSP00000400561:R451C	ENSP00000356155:R451C	R	-	1	0	PIK3C2B	202696372	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	2.537000	0.45702	2.746000	0.94184	0.655000	0.94253	CGC	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087965.1		-	ENST00000367187.3	Missense_Mutation	SNP	1 : 204429749 - 204429749 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	377	70
ADAMTS18	170692	broad.mit.edu	37	16	77401620	77401620	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77401620A>C	ENST00000282849.5	-	4	914	c.496T>G	c.(496-498)Tca>Gca	p.S166A	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	166					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ATTAAACCTGACTAAAAAGCC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	89	92			NA	NA	16		NA											NA				77401620		2198	4300	6498	SO:0001630	splice_region_variant			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873	170692	170692		ADAM metallopeptidases with thrombospondin type 1 motif	17110	protein-coding gene	gene with protein product		607512	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18	ADAMTS21	NA	11867212, 17546048	Standard		NM_199355	NA	Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.496-1T>G	16.37:g.77401620A>C		NA	Q6P4R5|Q6ZWJ9	37	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	A	11.92	1.781749	0.31502	.	.	ENSG00000140873	ENST00000282849;ENST00000449265	T;T	0.05996	3.36;3.36	4.72	3.62	0.41486	Peptidase M12B, propeptide (1);	0.157146	0.44902	D	0.000408	T	0.04998	0.0134	L	0.33485	1.01	0.41481	D	0.988164	B	0.12013	0.005	B	0.18263	0.021	T	0.30060	-0.9991	10	0.09843	T	0.71	.	10.0528	0.42225	0.8493:0.0:0.0:0.1507	.	166	Q8TE60	ATS18_HUMAN	A	166	ENSP00000282849:S166A;ENSP00000392540:S166A	ENSP00000282849:S166A	S	-	1	0	ADAMTS18	75959121	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.863000	0.56016	0.813000	0.34350	0.454000	0.30748	TCA	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269037.1	Missense_Mutation	-	ENST00000282849.5	Splice_Site	SNP	16 : 77401620 - 77401620 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	459	108
ARAP2	116984	broad.mit.edu	37	4	36118684	36118684	+	Splice_Site	SNP	C	C	T	rs139889832		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:36118684C>T	ENST00000303965.4	-	25	4526	c.4037G>A	c.(4036-4038)cGg>cAg	p.R1346Q		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1346	Ras-associating.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						AGAACTTACCCGAATTATAAT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	GLN/ARG	2,4404	2.1+/-5.4	0,2,2201	67	66	67		4037	5.8	1	4	dbSNP_134	67	4,8596	3.7+/-12.6	0,4,4296	yes	missense-near-splice	ARAP2	NM_015230.3	43	0,6,6497	TT,TC,CC	NA	0.0465,0.0454,0.0461	probably-damaging	1346/1705	36118684	6,13000	2203	4300	6503	SO:0001630	splice_region_variant			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365	116984	116984		ADP-ribosylation factor GTPase activating proteins, Sterile alpha motif (SAM) domain containing, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing	16924	protein-coding gene	gene with protein product		606645	centaurin, delta 1	CENTD1	NA		Standard	NM_015230	NM_015230	NA	Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.4038+1G>A	4.37:g.36118684C>T		NA	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	37	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.660559	0.88154	4.54E-4	4.65E-4	ENSG00000047365	ENST00000303965	T	0.18338	2.22	5.76	5.76	0.90799	Ras-association (2);	0.056391	0.64402	D	0.000002	T	0.28267	0.0698	L	0.28274	0.84	0.42707	D	0.993635	D	0.63046	0.992	P	0.58391	0.838	T	0.00695	-1.1606	10	0.51188	T	0.08	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	1346	Q8WZ64	ARAP2_HUMAN	Q	1346	ENSP00000302895:R1346Q	ENSP00000302895:R1346Q	R	-	2	0	ARAP2	35795079	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	3.102000	0.50291	2.880000	0.98712	0.650000	0.86243	CGG	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000215074.2	Missense_Mutation	-	ENST00000303965.4	Splice_Site	SNP	4 : 36118684 - 36118684 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	143	21
XRN2	22803	broad.mit.edu	37	20	21314400	21314400	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21314400G>T	ENST00000377191.3	+	11	1087	c.992G>T	c.(991-993)aGc>aTc	p.S331I	XRN2_ENST00000430571.2_Missense_Mutation_p.S255I|XRN2_ENST00000539513.1_Missense_Mutation_p.S277I	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	331					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						GTTGAGAGGAGCATTGATGAC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													297	273	281			NA	NA	20		NA											NA				21314400		2203	4300	6503	SO:0001583	missense			AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	22803	22803	3.1.13.-		12836	protein-coding gene	gene with protein product		608851			NA	10409438	Standard	NM_012255	NM_012255	NA	Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.992G>T	20.37:g.21314400G>T	ENSP00000366396:p.Ser331Ile	NA	Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	37	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009093	0.54361	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.25749	1.78;1.78;1.78	5.83	3.85	0.44370	.	0.000000	0.85682	D	0.000000	T	0.09992	0.0245	N	0.05199	-0.095	0.80722	D	1	B	0.25441	0.126	B	0.18561	0.022	T	0.12708	-1.0537	10	0.02654	T	1	-15.4121	11.5221	0.50558	0.0655:0.0:0.8104:0.1241	.	331	Q9H0D6	XRN2_HUMAN	I	331;255;277	ENSP00000366396:S331I;ENSP00000413548:S255I;ENSP00000441113:S277I	ENSP00000366396:S331I	S	+	2	0	XRN2	21262400	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.982000	0.88131	1.456000	0.47831	0.655000	0.94253	AGC	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078273.2		+	ENST00000377191.3	Missense_Mutation	SNP	20 : 21314400 - 21314400 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1527	287
PCDH10	57575	broad.mit.edu	37	4	134073339	134073339	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134073339G>A	ENST00000264360.5	+	1	2870	c.2044G>A	c.(2044-2046)Gcc>Acc	p.A682T		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	NA	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGTGGATGGCGCCGTGGAGCC	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	27	25			NA	NA	4		NA											NA				134073339		2191	4276	6467	SO:0001583	missense			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650	57575	57575		Cadherins / Protocadherins : Non-clustered	13404	protein-coding gene	gene with protein product		608286			NA	10835267	Standard	NM_032961	NM_020815	NA	Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2044G>A	4.37:g.134073339G>A	ENSP00000264360:p.Ala682Thr	NA	Q4W5F6	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	1.108	-0.658915	0.03454	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.53206	0.63	4.62	3.78	0.43462	Cadherin (1);	0.000000	0.44902	D	0.000401	T	0.24890	0.0604	N	0.19112	0.55	0.35519	D	0.801305	P;P	0.35612	0.491;0.512	B;B	0.26416	0.028;0.069	T	0.27088	-1.0084	10	0.27082	T	0.32	.	6.9938	0.24769	0.0899:0.0:0.7385:0.1716	.	682;682	Q9P2E7;Q96SF0	PCD10_HUMAN;.	T	682	ENSP00000264360:A682T	ENSP00000264360:A682T	A	+	1	0	PCDH10	134292789	0.569000	0.26643	0.191000	0.23289	0.012000	0.07955	1.811000	0.38942	1.171000	0.42768	-0.136000	0.14681	GCC	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364457.2		+	ENST00000264360.5	Missense_Mutation	SNP	4 : 134073339 - 134073339 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	293	63
SYNE2	23224	broad.mit.edu	37	14	64434512	64434512	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64434512T>C	ENST00000554584.1	+	10	1127	c.1076T>C	c.(1075-1077)cTg>cCg	p.L359P	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.L359P|SYNE2_ENST00000344113.4_Missense_Mutation_p.L359P			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	359					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTGGATGAGCTGGACAAGGAT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	127	129			NA	NA	14		NA											NA				64434512		1904	4137	6041	SO:0001583	missense			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654	23224	23224			17084	protein-coding gene	gene with protein product	nuclear envelope spectrin repeat-2, nucleus and actin connecting element	608442			NA	10231032, 10878022	Standard	NM_182914	NM_182910	NA	Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000554584.1:c.1076T>C	14.37:g.64434512T>C	ENSP00000452570:p.Leu359Pro	NA	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	37		.	.	.	.	.	.	.	.	.	.	T	7.910	0.736240	0.15574	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.62364	0.38;0.38;0.03	5.24	2.8	0.32819	.	0.454238	0.16247	N	0.222862	T	0.56292	0.1975	M	0.61703	1.905	0.80722	D	1	B;B	0.32800	0.266;0.385	B;B	0.33295	0.077;0.161	T	0.53718	-0.8399	10	0.87932	D	0	.	6.9347	0.24461	0.0:0.0775:0.1499:0.7727	.	359;359	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	P	359	ENSP00000350719:L359P;ENSP00000341781:L359P;ENSP00000452570:L359P	ENSP00000261678:L359P	L	+	2	0	SYNE2	63504265	0.033000	0.19621	0.323000	0.25347	0.034000	0.12701	0.576000	0.23744	0.284000	0.22305	0.482000	0.46254	CTG	SYNE2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000411905.1		+	ENST00000554584.1	Missense_Mutation	SNP	14 : 64434512 - 64434512 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	430	94
CNP	1267	broad.mit.edu	37	17	40120260	40120260	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40120260G>A	ENST00000393892.3	+	2	322	c.178G>A	c.(178-180)Gga>Aga	p.G60R	CNP_ENST00000592446.1_3'UTR|CNP_ENST00000393888.1_Missense_Mutation_p.G40R|CNP_ENST00000472031.1_Intron|CNP_ENST00000591072.1_Intron	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	NA					cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		CGGCCTGCCAGGAAGCGGCAA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	43	42			NA	NA	17		NA											NA				40120260		2136	4229	6365	SO:0001583	missense				CCDS11414.2	17q21	2008-02-05			ENSG00000173786	ENSG00000173786	1267	1267	3.1.4.37		2158	protein-coding gene	gene with protein product		123830			NA	1322358	Standard		XM_006721701	NA	Approved		uc002hyl.1	P09543	OTTHUMG00000133502	ENST00000393892.3:c.178G>A	17.37:g.40120260G>A	ENSP00000377470:p.Gly60Arg	NA		37	CCDS11414.2	.	.	.	.	.	.	.	.	.	.	G	33	5.246472	0.95305	.	.	ENSG00000173786	ENST00000393892;ENST00000310262;ENST00000393888;ENST00000441615	T;T;T	0.68479	-0.33;-0.33;-0.33	4.86	4.86	0.63082	Zeta toxin domain (1);	0.171566	0.50627	D	0.000109	D	0.83571	0.5283	M	0.82716	2.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.86021	0.1507	10	0.87932	D	0	-26.7928	18.5312	0.90993	0.0:0.0:1.0:0.0	.	60;60;40	B4DI06;P09543;P09543-2	.;CN37_HUMAN;.	R	60;60;40;40	ENSP00000377470:G60R;ENSP00000377466:G40R;ENSP00000413104:G40R	ENSP00000309643:G60R	G	+	1	0	CNP	37373786	1.000000	0.71417	0.930000	0.37139	0.989000	0.77384	8.357000	0.90088	2.683000	0.91414	0.555000	0.69702	GGA	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257443.2		+	ENST00000393892.3	Missense_Mutation	SNP	17 : 40120260 - 40120260 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	214	27
NPHS1	4868	broad.mit.edu	37	19	36332624	36332624	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36332624G>A	ENST00000378910.5	-	20	2807	c.2808C>T	c.(2806-2808)gtC>gtT	p.V936V	NPHS1_ENST00000353632.6_Silent_p.V936V	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	936	Ig-like C2-type 8.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TACTGATGCTGACAAGTTGAA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	119	133			NA	NA	19		NA											NA				36332624		2203	4300	6503	SO:0001819	synonymous_variant				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270	4868	4868		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	7908	protein-coding gene	gene with protein product		602716			NA	9915943, 9660941	Standard		NM_004646	NA	Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2808C>T	19.37:g.36332624G>A		NA	A6NDH2|C3RX61	37	CCDS32996.1																																																																																			NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452553.1		-	ENST00000378910.5	Silent	SNP	19 : 36332624 - 36332624 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	252	32
SP140L	93349	broad.mit.edu	37	2	231264950	231264950	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231264950A>G	ENST00000415673.2	+	15	1392	c.1306A>G	c.(1306-1308)Agt>Ggt	p.S436G	SP140L_ENST00000243810.6_Missense_Mutation_p.S436G|SP140L_ENST00000396563.4_Missense_Mutation_p.S401G|SP140L_ENST00000444636.1_Missense_Mutation_p.S436G	NM_138402.4	NP_612411.4	Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	436						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						ACCTGTGGAAAGTGAGAAGTA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	118	116			NA	NA	2		NA											NA				231264950		2090	4242	6332	SO:0001583	missense			BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404	93349	93349		Zinc fingers, PHD-type	25105	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_138402	NM_138402	NA	Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.1306A>G	2.37:g.231264950A>G	ENSP00000397911:p.Ser436Gly	NA	Q2M375|Q4ZG65|Q9BSP3	37	CCDS46538.1	.	.	.	.	.	.	.	.	.	.	a	8.272	0.813488	0.16537	.	.	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563	D;D;D;D	0.85339	-1.64;-1.97;-1.64;-1.76	2.8	-4.25	0.03766	.	.	.	.	.	T	0.76976	0.4063	L	0.46819	1.47	0.09310	N	1	B;B	0.19331	0.035;0.03	B;B	0.23716	0.048;0.043	T	0.64411	-0.6414	9	0.66056	D	0.02	.	5.9102	0.19025	0.1977:0.0:0.6305:0.1718	.	401;436	Q9H930-2;Q9H930-4	.;.	G	436;436;436;401	ENSP00000395195:S436G;ENSP00000397911:S436G;ENSP00000243810:S436G;ENSP00000379811:S401G	ENSP00000243810:S436G	S	+	1	0	SP140L	230973194	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.530000	0.02221	-0.912000	0.03837	-2.382000	0.00231	AGT	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374538.1		+	ENST00000415673.2	Missense_Mutation	SNP	2 : 231264950 - 231264950 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	311	59
DCC	1630	broad.mit.edu	37	18	50278519	50278519	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:50278519G>A	ENST00000442544.2	+	2	803	c.187G>A	c.(187-189)Gcg>Acg	p.A63T		NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	63	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CGACTGCTCCGCGGAGTCCGA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	70	71			NA	NA	18		NA											NA				50278519		2203	4300	6503	SO:0001583	missense			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323	1630	1630		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	2701	protein-coding gene	gene with protein product	immunoglobulin superfamily, DCC subclass, member 1	120470	deleted in colorectal carcinoma		NA	2294591, 24400119	Standard	NM_005215	NM_005215	NA	Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.187G>A	18.37:g.50278519G>A	ENSP00000389140:p.Ala63Thr	NA		37	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.851659	0.71719	.	.	ENSG00000187323	ENST00000442544	T	0.15603	2.41	5.66	5.66	0.87406	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.44932	0.1317	M	0.84082	2.675	0.80722	D	1	D	0.71674	0.998	P	0.61477	0.889	T	0.45760	-0.9239	10	0.72032	D	0.01	.	18.5252	0.90969	0.0:0.0:1.0:0.0	.	63	P43146	DCC_HUMAN	T	63	ENSP00000389140:A63T	ENSP00000389140:A63T	A	+	1	0	DCC	48532517	1.000000	0.71417	0.850000	0.33497	0.146000	0.21551	4.507000	0.60434	2.676000	0.91093	0.655000	0.94253	GCG	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255996.3		+	ENST00000442544.2	Missense_Mutation	SNP	18 : 50278519 - 50278519 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	45
TOPBP1	11073	broad.mit.edu	37	3	133375563	133375563	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133375563G>T	ENST00000260810.5	-	5	633	c.502C>A	c.(502-504)Ctt>Att	p.L168I	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	168	BRCT 1.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						CAAGAGGGAAGCAAAATAGGT	0.323		NA						Other conserved DNA damage response genes						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(21;193 658 4424 15423 17362)							NA				0													107	104	105			NA	NA	3		NA											NA				133375563		1823	4088	5911	SO:0001583	missense			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781	11073	11073			17008	protein-coding gene	gene with protein product		607760			NA	9461304, 9039502	Standard	NM_007027	NM_007027	NA	Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.502C>A	3.37:g.133375563G>T	ENSP00000260810:p.Leu168Ile	NA	B7Z7W8|Q7LGC1|Q9UEB9	37	CCDS46919.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.8|21.8	4.195804|4.195804	0.78902|0.78902	.|.	.|.	ENSG00000163781|ENSG00000163781	ENST00000508524|ENST00000260810	.|T	.|0.79247	.|-1.25	5.33|5.33	5.33|5.33	0.75918|0.75918	.|BRCT (4);	.|0.071226	.|0.56097	.|D	.|0.000021	.|D	.|0.87071	.|0.6086	M|M	0.70595|0.70595	2.14|2.14	0.58432|0.58432	D|D	0.99999|0.99999	.|D	.|0.71674	.|0.998	.|D	.|0.68765	.|0.96	.|D	.|0.85799	.|0.1372	.|10	.|0.37606	.|T	.|0.19	.|.	19.0309|19.0309	0.92957|0.92957	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|168	.|Q92547	.|TOPB1_HUMAN	X|I	12|168	.|ENSP00000260810:L168I	.|ENSP00000260810:L168I	C|L	-|-	3|1	2|0	TOPBP1|TOPBP1	134858253|134858253	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.582000|5.582000	0.67477|0.67477	2.496000|2.496000	0.84212|0.84212	0.563000|0.563000	0.77884|0.77884	TGC|CTT	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357254.1		-	ENST00000260810.5	Missense_Mutation	SNP	3 : 133375563 - 133375563 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	92
MIA2	117153	broad.mit.edu	37	14	39706205	39706205	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:39706205G>T	ENST00000280082.3	+	2	394	c.195G>T	c.(193-195)gaG>gaT	p.E65D	RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.E65D|MIA2_ENST00000556784.1_Missense_Mutation_p.E65D	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	65	SH3.					extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		AGGGAGAAGAGATATCTGTTT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	82	84			NA	NA	14		NA											NA				39706205		2203	4300	6503	SO:0001583	missense			BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526	117153	117153			18432	protein-coding gene	gene with protein product		608001			NA	12586826	Standard	NM_054024	NM_054024	NA	Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.195G>T	14.37:g.39706205G>T	ENSP00000280082:p.Glu65Asp	NA	A1L4H0|Q9H6C1	37	CCDS9672.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799117	0.70567	.	.	ENSG00000150526;ENSG00000150526;ENSG00000150526;ENSG00000150526;ENSG00000258941	ENST00000557148;ENST00000555143;ENST00000280082;ENST00000556784;ENST00000553728	T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46	5.26	2.41	0.29592	.	0.000000	0.38548	N	0.001651	T	0.81029	0.4738	L	0.39898	1.24	0.31873	N	0.61949	D	0.89917	1.0	D	0.77004	0.989	T	0.77536	-0.2551	9	.	.	.	-13.5182	4.4414	0.11575	0.3:0.0:0.5536:0.1464	.	65	Q96PC5-2	.	D	65	ENSP00000451883:E65D;ENSP00000451217:E65D;ENSP00000280082:E65D;ENSP00000451934:E65D;ENSP00000452252:E65D	.	E	+	3	2	MIA2;RP11-407N17.3	38775956	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.637000	0.24659	0.223000	0.20920	0.655000	0.94253	GAG	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276768.3		+	ENST00000280082.3	Missense_Mutation	SNP	14 : 39706205 - 39706205 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	231	37
RBM33	155435	broad.mit.edu	37	7	155504066	155504066	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:155504066C>T	ENST00000401878.3	+	8	1316	c.1118C>T	c.(1117-1119)aCc>aTc	p.T373I	RBM33_ENST00000486747.1_3'UTR	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	373	Pro-rich.						nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		ATGATGATGACCCCGCCACCC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	78	73			NA	NA	7		NA											NA				155504066		2110	4218	6328	SO:0001583	missense			AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863	155435	155435		RNA binding motif (RRM) containing	27223	protein-coding gene	gene with protein product			proline rich 8	PRR8	NA		Standard	NM_001008408	NM_053043	NA	Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.1118C>T	7.37:g.155504066C>T	ENSP00000384160:p.Thr373Ile	NA	A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	37	CCDS5941.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.04|16.04	3.010313|3.010313	0.54361|0.54361	.|.	.|.	ENSG00000184863|ENSG00000184863	ENST00000392761|ENST00000401878;ENST00000440108	.|T	.|0.52754	.|0.65	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	.|.	.|.	.|.	.|.	T|T	0.58935|0.58935	0.2157|0.2157	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.998;0.998	.|D;D	.|0.64776	.|0.929;0.929	T|T	0.56275|0.56275	-0.8006|-0.8006	5|9	.|0.36615	.|T	.|0.2	.|.	13.1715|13.1715	0.59602|0.59602	0.1595:0.8405:0.0:0.0|0.1595:0.8405:0.0:0.0	.|.	.|90;373	.|B4DVQ2;Q96EV2	.|.;RBM33_HUMAN	S|I	145|373;274	.|ENSP00000384160:T373I	.|ENSP00000384160:T373I	P|T	+|+	1|2	0|0	RBM33|RBM33	155196827|155196827	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.768000|0.768000	0.43524|0.43524	3.648000|3.648000	0.54410|0.54410	2.292000|2.292000	0.77174|0.77174	0.557000|0.557000	0.71058|0.71058	CCC|ACC	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317225.3		+	ENST00000401878.3	Missense_Mutation	SNP	7 : 155504066 - 155504066 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	261	40
TFE3	7030	broad.mit.edu	37	X	48888050	48888050	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48888050G>T	ENST00000315869.7	-	10	1606	c.1347C>A	c.(1345-1347)tcC>tcA	p.S449S		NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	449					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCGTGGCCAAGGAAAGCAGCC	0.587		NA	T	SFPQ, ASPSCR1, PRCC, NONO, CLTC	papillary renal, alveolar soft part sarcoma, renal									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		X	Xp11.22	7030	transcription factor binding to IGHM enhancer 3		E	0													54	49	51			NA	NA	X		NA											NA				48888050		2203	4300	6503	SO:0001819	synonymous_variant			X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323	7030	7030		Basic helix-loop-helix proteins	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310			NA	1672758, 1685140	Standard	NM_006521	NM_006521	NA	Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1347C>A	X.37:g.48888050G>T		NA	A8MZL6|Q92757|Q92758|Q99964	37	CCDS14315.3																																																																																			TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058872.2		-	ENST00000315869.7	Silent	SNP	X : 48888050 - 48888050 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	339	22
C22orf29	79680	broad.mit.edu	37	22	19838878	19838878	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19838878G>T	ENST00000405640.1	-	2	1575	c.907C>A	c.(907-909)Ctg>Atg	p.L303M	C22orf29_ENST00000407472.1_Missense_Mutation_p.L303M|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000403325.1_Intron|GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000484072.1_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.L303M|GNB1L_ENST00000405009.1_Intron			Q7L3V2	CV029_HUMAN	chromosome 22 open reading frame 29	303	Pro-rich.									NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					GACTCCGACAGTCTAGGGACA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	54	54			NA	NA	22		NA											NA				19838878		2203	4300	6503	SO:0001583	missense			BX640998	CCDS13769.1	22q11.21	2006-07-05			ENSG00000215012	ENSG00000215012	79680	79680			26112	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024627	NM_024627	NA	Approved	FLJ21125	uc002zqh.3	Q7L3V2	OTTHUMG00000030314	ENST00000405640.1:c.907C>A	22.37:g.19838878G>T	ENSP00000384924:p.Leu303Met	NA	D3DX21|Q6MZM8|Q6N000|Q9H7A0	37	CCDS13769.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.456317	0.26161	.	.	ENSG00000215012	ENST00000407472;ENST00000328554;ENST00000405640	T;T;T	0.26223	1.75;1.75;1.75	3.8	-1.02	0.10135	.	.	.	.	.	T	0.12433	0.0302	N	0.08118	0	0.09310	N	1	P	0.47677	0.899	P	0.45681	0.49	T	0.11084	-1.0602	9	0.62326	D	0.03	.	1.3263	0.02126	0.2023:0.1685:0.4561:0.1731	.	303	Q7L3V2	CV029_HUMAN	M	303	ENSP00000386111:L303M;ENSP00000330596:L303M;ENSP00000384924:L303M	ENSP00000330596:L303M	L	-	1	2	C22orf29	18218878	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.014000	0.12656	-0.058000	0.13177	0.650000	0.86243	CTG	C22orf29-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317290.2		-	ENST00000405640.1	Missense_Mutation	SNP	22 : 19838878 - 19838878 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	56
ACRBP	84519	broad.mit.edu	37	12	6753300	6753300	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6753300T>C	ENST00000536350.1	-	5	973	c.947A>G	c.(946-948)tAt>tGt	p.Y316C	ACRBP_ENST00000414226.2_Intron|ACRBP_ENST00000229243.2_Intron			Q8NEB7	ACRBP_HUMAN	acrosin binding protein	0				L -> F (in Ref. 1; BAB39388).		acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						AAACTTCCTATACCTGCCAGG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	66	66			NA	NA	12		NA											NA				6753300		2203	4300	6503	SO:0001583	missense			AB051833	CCDS8554.1	12p13.31	2009-03-12			ENSG00000111644	ENSG00000111644	84519	84519			17195	protein-coding gene	gene with protein product	proacrosin binding protein sp32, cancer/testis antigen 23	608352			NA	11248070	Standard	NM_032489	NM_032489	NA	Approved	SP32, OY-TES-1, CT23	uc001qpu.1	Q8NEB7	OTTHUMG00000168715	ENST00000536350.1:c.947A>G	12.37:g.6753300T>C	ENSP00000443153:p.Tyr316Cys	NA	Q9BY87	37		.	.	.	.	.	.	.	.	.	.	T	14.75	2.627340	0.46944	.	.	ENSG00000111644	ENST00000536350	.	.	.	4.25	4.25	0.50352	.	.	.	.	.	T	0.46328	0.1387	.	.	.	0.26229	N	0.97904	.	.	.	.	.	.	T	0.42155	-0.9468	5	0.87932	D	0	.	9.9285	0.41507	0.0:0.0:0.0:1.0	.	.	.	.	C	316	.	ENSP00000443153:Y316C	Y	-	2	0	ACRBP	6623561	1.000000	0.71417	0.972000	0.41901	0.475000	0.33008	3.315000	0.51951	1.907000	0.55213	0.459000	0.35465	TAT	ACRBP-009	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000400707.1		-	ENST00000536350.1	Missense_Mutation	SNP	12 : 6753300 - 6753300 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	488	55
MFSD8	256471	broad.mit.edu	37	4	128841803	128841803	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128841803A>C	ENST00000296468.3	-	13	1666	c.1539T>G	c.(1537-1539)taT>taG	p.Y513*	MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Nonsense_Mutation_p.Y468*	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	513					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						GAATCCTCCCATATCTTACAG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	98	98			NA	NA	4		NA											NA				128841803		2203	4300	6503	SO:0001587	stop_gained			AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073	256471	256471			28486	protein-coding gene	gene with protein product		611124	ceroid-lipofuscinosis, neuronal 7, late infantile, variant	CLN7	NA	17564970	Standard	NM_152778	NM_152778	NA	Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.1539T>G	4.37:g.128841803A>C	ENSP00000296468:p.Tyr513*	NA	B2RDM1|Q8N2P3	37	CCDS3736.1	.	.	.	.	.	.	.	.	.	.	A	35	5.477345	0.96291	.	.	ENSG00000164073	ENST00000296468;ENST00000513559	.	.	.	4.33	3.11	0.35812	.	0.376195	0.29565	N	0.011790	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.2271	9.9504	0.41636	0.9176:0.0:0.0824:0.0	.	.	.	.	X	513;468	.	ENSP00000296468:Y513X	Y	-	3	2	MFSD8	129061253	1.000000	0.71417	0.915000	0.36163	0.620000	0.37586	1.365000	0.34182	1.830000	0.53286	0.459000	0.35465	TAT	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257097.1		-	ENST00000296468.3	Nonsense_Mutation	SNP	4 : 128841803 - 128841803 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	476	86
TCN1	6947	broad.mit.edu	37	11	59631526	59631526	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59631526G>T	ENST00000257264.3	-	2	217	c.113C>A	c.(112-114)cCt>cAt	p.P38H	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	38					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATTCAACAGAGGTTTTAGGCG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													207	200	202			NA	NA	11		NA											NA				59631526		2201	4294	6495	SO:0001583	missense			J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827	6947	6947			11652	protein-coding gene	gene with protein product	haptocorin, haptocorrin	189905			NA		Standard	NM_001062	NM_001062	NA	Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.113C>A	11.37:g.59631526G>T	ENSP00000257264:p.Pro38His	NA	A8KAC5|Q8WV77	37	CCDS7978.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899915	0.52227	.	.	ENSG00000134827	ENST00000257264	T	0.34667	1.35	4.54	3.61	0.41365	.	0.602001	0.15518	N	0.258174	T	0.32164	0.0820	M	0.63428	1.95	0.22710	N	0.998822	P	0.41159	0.74	B	0.37346	0.247	T	0.11012	-1.0605	10	0.17832	T	0.49	-2.6499	10.4549	0.44544	0.0:0.0:0.8044:0.1956	.	38	P20061	TCO1_HUMAN	H	38	ENSP00000257264:P38H	ENSP00000257264:P38H	P	-	2	0	TCN1	59388102	0.862000	0.29867	0.189000	0.23252	0.005000	0.04900	0.571000	0.23669	1.193000	0.43086	0.655000	0.94253	CCT	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394503.1		-	ENST00000257264.3	Missense_Mutation	SNP	11 : 59631526 - 59631526 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	823	64
PWWP2B	170394	broad.mit.edu	37	10	134218335	134218335	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134218335G>A	ENST00000305233.5	+	2	390	c.331G>A	c.(331-333)Gcc>Acc	p.A111T	PWWP2B_ENST00000368609.4_Missense_Mutation_p.A111T	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	111	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GCCGCTGCCCGCCGGAAGCCT	0.756		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													7	7	7			NA	NA	10		NA											NA				134218335		1698	3287	4985	SO:0001583	missense			AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813	170394	170394			25150	protein-coding gene	gene with protein product			PWWP domain containing 2	PWWP2	NA		Standard	NM_138499	NM_001098637	NA	Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.331G>A	10.37:g.134218335G>A	ENSP00000306324:p.Ala111Thr	NA	A6NM90|B5MDQ1|Q5SZI0|Q6ZQX5|Q96F43	37	CCDS7667.2	.	.	.	.	.	.	.	.	.	.	G	0.107	-1.143618	0.01728	.	.	ENSG00000171813	ENST00000305233;ENST00000368609	T;T	0.55760	0.5;1.5	3.71	2.72	0.32119	.	0.363325	0.20623	U	0.088734	T	0.35711	0.0941	L	0.38175	1.15	0.18873	N	0.999989	B	0.17852	0.024	B	0.06405	0.002	T	0.13764	-1.0497	10	0.23302	T	0.38	-1.9873	5.7131	0.17945	0.1733:0.0:0.8267:0.0	.	111	Q6NUJ5	PWP2B_HUMAN	T	111	ENSP00000306324:A111T;ENSP00000357598:A111T	ENSP00000306324:A111T	A	+	1	0	PWWP2B	134068325	0.001000	0.12720	0.069000	0.20011	0.392000	0.30506	-0.086000	0.11233	0.825000	0.34637	0.557000	0.71058	GCC	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051075.3		+	ENST00000305233.5	Missense_Mutation	SNP	10 : 134218335 - 134218335 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	90	20
CYP2J2	1573	broad.mit.edu	37	1	60377919	60377919	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:60377919C>A	ENST00000371204.3	-	3	481	c.438G>T	c.(436-438)agG>agT	p.R146S	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	146					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					AACCAAAGTTCCTTAGTGCTG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													204	168	180			NA	NA	1		NA											NA				60377919		2203	4300	6503	SO:0001583	missense			BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716	1573	1573		Cytochrome P450s	2634	protein-coding gene	gene with protein product		601258	cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2		NA	9570962	Standard	NM_000775	NM_000775	NA	Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.438G>T	1.37:g.60377919C>A	ENSP00000360247:p.Arg146Ser	NA		37	CCDS613.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404074	0.62288	.	.	ENSG00000134716	ENST00000371204	T	0.76578	-1.03	5.85	4.94	0.65067	.	0.045766	0.85682	D	0.000000	D	0.89567	0.6752	H	0.94658	3.565	0.40386	D	0.979495	D	0.60575	0.988	D	0.64595	0.927	D	0.91533	0.5244	10	0.87932	D	0	.	10.1236	0.42637	0.0:0.8462:0.0:0.1538	.	146	P51589	CP2J2_HUMAN	S	146	ENSP00000360247:R146S	ENSP00000360247:R146S	R	-	3	2	CYP2J2	60150507	0.302000	0.24454	0.994000	0.49952	0.775000	0.43874	-0.146000	0.10250	1.491000	0.48482	-0.136000	0.14681	AGG	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000024940.1		-	ENST00000371204.3	Missense_Mutation	SNP	1 : 60377919 - 60377919 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	627	51
NEUROD6	63974	broad.mit.edu	37	7	31378468	31378468	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31378468C>T	ENST00000297142.3	-	2	737	c.415G>A	c.(415-417)Gcc>Acc	p.A139T		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	139	Helix-loop-helix motif.				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						TAGTTTTTGGCCAGTCGTAAA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	75	74			NA	NA	7		NA											NA				31378468		2203	4300	6503	SO:0001583	missense			AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600	63974	63974		Basic helix-loop-helix proteins	13804	protein-coding gene	gene with protein product		611513	neurogenic differentiation 6		NA	12357074	Standard	NM_022728	NM_022728	NA	Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.415G>A	7.37:g.31378468C>T	ENSP00000297142:p.Ala139Thr	NA	Q9H3H6	37	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109882	0.77210	.	.	ENSG00000164600	ENST00000297142	D	0.99422	-5.88	5.25	5.25	0.73442	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99576	0.9847	M	0.87617	2.895	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.98231	1.0483	10	0.87932	D	0	-15.8261	18.86	0.92268	0.0:1.0:0.0:0.0	.	139	Q96NK8	NDF6_HUMAN	T	139	ENSP00000297142:A139T	ENSP00000297142:A139T	A	-	1	0	NEUROD6	31344993	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.770000	0.85390	2.459000	0.83118	0.650000	0.86243	GCC	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000215050.1		-	ENST00000297142.3	Missense_Mutation	SNP	7 : 31378468 - 31378468 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	12
FAM83G	644815	broad.mit.edu	37	17	18881119	18881119	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18881119G>A	ENST00000388995.6	-	5	2083	c.1860C>T	c.(1858-1860)ttC>ttT	p.F620F	SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000345041.4_Silent_p.F620F|FAM83G_ENST00000585154.2_Silent_p.F620F|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395643.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	620										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CTCTCACCTCGAAGTACTCCT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	37	36			NA	NA	17		NA											NA				18881119		2017	4177	6194	SO:0001819	synonymous_variant			AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522	644815	644815			32554	protein-coding gene	gene with protein product	protein associated with SMAD1	615886			NA	24554596	Standard		NM_001039999	NA	Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.1860C>T	17.37:g.18881119G>A		NA	Q3KQZ4|Q6ZW60	37	CCDS42276.1																																																																																			FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253108.4		-	ENST00000388995.6	Silent	SNP	17 : 18881119 - 18881119 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	357	64
COMMD1	150684	broad.mit.edu	37	2	62132863	62132863	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:62132863A>C	ENST00000311832.5	+	1	82	c.50A>C	c.(49-51)aAt>aCt	p.N17T	COMMD1_ENST00000472729.1_Intron|COMMD1_ENST00000538736.1_Missense_Mutation_p.N17T	NM_152516.2	NP_689729.1	Q8N668	COMD1_HUMAN	copper metabolism (Murr1) domain containing 1	17					copper ion homeostasis|negative regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|regulation of proteasomal ubiquitin-dependent protein catabolic process	cell junction|Cul2-RING ubiquitin ligase complex|cytoplasm|nucleolus	copper ion binding|protein homodimerization activity			large_intestine(1)|liver(2)|lung(5)|ovary(1)	9	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)			GGGCTGCTGAATGCGCTGGCC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	24	23			NA	NA	2		NA											NA				62132863		2203	4300	6503	SO:0001583	missense			BC022046	CCDS1869.1	2p15	2004-03-02	2004-02-13	2004-02-18	ENSG00000173163	ENSG00000173163	150684	150684			23024	protein-coding gene	gene with protein product	copper metabolism gene MURR1	607238	chromosome 2 open reading frame 5 (MURR1)	C2orf5	NA	9001233, 11809725	Standard	NM_152516	NM_152516	NA	Approved	MURR1, MGC27155	uc002sbp.3	Q8N668	OTTHUMG00000129445	ENST00000311832.5:c.50A>C	2.37:g.62132863A>C	ENSP00000308236:p.Asn17Thr	NA	Q96GS0	37	CCDS1869.1	.	.	.	.	.	.	.	.	.	.	A	9.487	1.099746	0.20552	.	.	ENSG00000173163	ENST00000311832;ENST00000538736	T;T	0.10573	2.86;2.86	5.6	-3.72	0.04411	.	0.441952	0.26927	N	0.021794	T	0.10723	0.0262	L	0.61218	1.895	0.24354	N	0.994901	B	0.25486	0.127	B	0.36418	0.224	T	0.29971	-0.9994	10	0.72032	D	0.01	.	2.5888	0.04837	0.4597:0.1174:0.3032:0.1197	.	17	Q8N668	COMD1_HUMAN	T	17	ENSP00000308236:N17T;ENSP00000438961:N17T	ENSP00000308236:N17T	N	+	2	0	COMMD1	61986367	0.923000	0.31300	0.114000	0.21550	0.008000	0.06430	-0.100000	0.10990	-0.831000	0.04256	-0.912000	0.02778	AAT	COMMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251607.2		+	ENST00000311832.5	Missense_Mutation	SNP	2 : 62132863 - 62132863 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	99	34
UNC13C	440279	broad.mit.edu	37	15	54825191	54825191	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54825191A>C	ENST00000260323.11	+	25	5623	c.5623A>C	c.(5623-5625)Aca>Cca	p.T1875P	UNC13C_ENST00000545554.1_Missense_Mutation_p.T1875P|UNC13C_ENST00000537900.1_Missense_Mutation_p.T1873P	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1875					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGGAAACACCACATCTAATAA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	82	81			NA	NA	15		NA											NA				54825191		1824	4090	5914	SO:0001583	missense			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766	440279	440279			23149	protein-coding gene	gene with protein product		614568			NA		Standard	NM_173166	NM_001080534	NA	Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5623A>C	15.37:g.54825191A>C	ENSP00000260323:p.Thr1875Pro	NA	Q0P613|Q8ND48|Q96NP3	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	A	8.458	0.854665	0.17106	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.13901	2.55;2.55;2.55	5.69	-1.44	0.08856	.	0.457329	0.24452	N	0.038410	T	0.04815	0.0130	N	0.03608	-0.345	0.09310	N	1	B	0.18166	0.026	B	0.24974	0.057	T	0.36529	-0.9744	10	0.30078	T	0.28	.	6.431	0.21796	0.4589:0.0:0.4189:0.1221	.	1875	Q8NB66	UN13C_HUMAN	P	1875;1875;1873	ENSP00000260323:T1875P;ENSP00000438156:T1875P;ENSP00000442569:T1873P	ENSP00000260323:T1875P	T	+	1	0	UNC13C	52612483	0.000000	0.05858	0.000000	0.03702	0.968000	0.65278	-0.379000	0.07437	-0.249000	0.09569	0.459000	0.35465	ACA	UNC13C-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419028.3		+	ENST00000260323.11	Missense_Mutation	SNP	15 : 54825191 - 54825191 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	68	9
FOXD4	2298	broad.mit.edu	37	9	117437	117437	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117437C>T	ENST00000382500.2	-	1	980	c.683G>A	c.(682-684)cGc>cAc	p.R228H		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	228	Pro-rich.				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	p.R228H(1)		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)		AGGGCCTGGGCGGGGGTTGTG	0.741		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	skin(1)											19	31	27			NA	NA	9		NA											NA				117437		1322	2695	4017	SO:0001583	missense			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.683G>A	9.37:g.117437C>T	ENSP00000371940:p.Arg228His	NA	B2RN05|B9EGL7|Q5VVK1|Q8WXT6	37	CCDS34975.1	.	.	.	.	.	.	.	.	.	.	.	3.441	-0.114120	0.06881	.	.	ENSG00000170122	ENST00000382500	D	0.94723	-3.5	1.69	0.405	0.16361	.	.	.	.	.	T	0.80999	0.4732	N	0.03608	-0.345	0.21355	N	0.999716	B	0.06786	0.001	B	0.01281	0.0	T	0.68534	-0.5383	9	0.07644	T	0.81	.	4.2202	0.10554	0.0:0.1344:0.2029:0.6628	.	228	Q12950	FOXD4_HUMAN	H	228	ENSP00000371940:R228H	ENSP00000371940:R228H	R	-	2	0	FOXD4	107437	0.072000	0.21174	0.005000	0.12908	0.226000	0.24999	0.211000	0.17474	-0.288000	0.09051	-1.039000	0.02377	CGC	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055433.1		-	ENST00000382500.2	Missense_Mutation	SNP	9 : 117437 - 117437 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	785	76
HGSNAT	138050	broad.mit.edu	37	8	43027471	43027471	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:43027471G>A	ENST00000379644.4	+	8	804	c.762G>A	c.(760-762)atG>atA	p.M254I	HGSNAT_ENST00000458501.2_Missense_Mutation_p.M282I	NM_152419.2	NP_689632.2	Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	282					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TTATACTCATGGTCTTTGTCA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													203	196	198			NA	NA	8		NA											NA				43027471		1870	4091	5961	SO:0001583	missense				CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	138050	138050	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	transmembrane protein 76	TMEM76	NA	17033958, 16960811	Standard	XM_372038	NM_152419	NA	Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000379644.4:c.762G>A	8.37:g.43027471G>A	ENSP00000368965:p.Met254Ile	NA	B4E2V0	37	CCDS47852.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275747	0.80580	.	.	ENSG00000165102	ENST00000458501;ENST00000379644;ENST00000522082	D;D;D	0.95103	-3.61;-3.61;-3.03	5.37	5.37	0.77165	.	0.043313	0.85682	D	0.000000	D	0.97216	0.9090	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97781	1.0232	10	0.87932	D	0	-37.2059	16.7067	0.85374	0.0:0.0:1.0:0.0	.	282	Q68CP4	HGNAT_HUMAN	I	282;254;1	ENSP00000389524:M282I;ENSP00000368965:M254I;ENSP00000430151:M1I	ENSP00000368965:M254I	M	+	3	0	HGSNAT	43146628	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	7.894000	0.87336	2.533000	0.85409	0.644000	0.83932	ATG	HGSNAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377293.1		+	ENST00000379644.4	Missense_Mutation	SNP	8 : 43027471 - 43027471 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	542	83
NDNF	79625	broad.mit.edu	37	4	121957901	121957901	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:121957901G>T	ENST00000379692.4	-	4	1751	c.1225C>A	c.(1225-1227)Ctt>Att	p.L409I		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	409										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TTTCCTCTAAGCTGAAACTGC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	112	112			NA	NA	4		NA											NA				121957901		2203	4300	6503	SO:0001583	missense			BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376	79625	79625			26256	protein-coding gene	gene with protein product			chromosome 4 open reading frame 31	C4orf31	NA	12975309, 20969804	Standard	NM_024574	NM_024574	NA	Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.1225C>A	4.37:g.121957901G>T	ENSP00000369014:p.Leu409Ile	NA	Q6UWE5|Q9H5P7	37	CCDS3717.2	.	.	.	.	.	.	.	.	.	.	G	9.359	1.067490	0.20067	.	.	ENSG00000173376	ENST00000379692	.	.	.	5.64	2.76	0.32466	.	0.059400	0.64402	D	0.000002	T	0.47377	0.1442	L	0.49350	1.555	0.58432	D	0.999994	B	0.09022	0.002	B	0.17098	0.017	T	0.33828	-0.9853	9	0.29301	T	0.29	-18.5846	8.5616	0.33514	0.0722:0.0:0.6552:0.2726	.	409	Q8TB73	NDNF_HUMAN	I	409	.	ENSP00000369014:L409I	L	-	1	0	NDNF	122177351	1.000000	0.71417	0.960000	0.40013	0.941000	0.58515	3.281000	0.51685	0.698000	0.31739	0.655000	0.94253	CTT	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256532.2		-	ENST00000379692.4	Missense_Mutation	SNP	4 : 121957901 - 121957901 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	729	148
XPNPEP3	63929	broad.mit.edu	37	22	41282496	41282496	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41282496A>G	ENST00000357137.4	+	4	853	c.769A>G	c.(769-771)Att>Gtt	p.I257V	XPNPEP3_ENST00000541156.1_Missense_Mutation_p.I257V|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.I234V|XPNPEP3_ENST00000414396.1_Missense_Mutation_p.I257V	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	257					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						ACGAATGCAGATTGCTGGGAA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(145;306 1841 7037 21878 30110)							NA				0													74	78	76			NA	NA	22		NA											NA				41282496		2203	4300	6503	SO:0001583	missense				CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236	63929	63929			28052	protein-coding gene	gene with protein product		613553			NA	15708373, 20179356	Standard	NM_022098	NM_022098	NA	Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.769A>G	22.37:g.41282496A>G	ENSP00000349658:p.Ile257Val	NA	B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	37	CCDS14007.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.002692	0.35320	.	.	ENSG00000196236	ENST00000541156;ENST00000414396;ENST00000357137;ENST00000544094	T;T	0.76186	-1.0;-1.0	5.74	0.825	0.18824	Peptidase M24, structural domain (3);	0.518896	0.22027	N	0.065658	T	0.52613	0.1745	N	0.16233	0.39	0.26831	N	0.968589	B;B	0.09022	0.002;0.0	B;B	0.09377	0.004;0.004	T	0.37478	-0.9704	10	0.36615	T	0.2	.	6.5065	0.22198	0.6254:0.1244:0.2502:0.0	.	257;257	Q9NQH7-5;Q9NQH7	.;XPP3_HUMAN	V	257;257;257;234	ENSP00000349658:I257V;ENSP00000441942:I234V	ENSP00000349658:I257V	I	+	1	0	XPNPEP3	39612442	0.889000	0.30405	0.998000	0.56505	0.997000	0.91878	1.347000	0.33975	0.103000	0.17682	0.455000	0.32223	ATT	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322201.2		+	ENST00000357137.4	Missense_Mutation	SNP	22 : 41282496 - 41282496 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	429	98
GPR132	29933	broad.mit.edu	37	14	105517442	105517442	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105517442G>A	ENST00000392585.2	-	3	1178	c.1005C>T	c.(1003-1005)acC>acT	p.T335T	GPR132_ENST00000539291.2_Silent_p.T344T|GPR132_ENST00000329797.3_Silent_p.T344T	NM_001278695.1	NP_001265624.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	344					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GCAGCTCCTCGGTGTCCCTGC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													173	142	152			NA	NA	14		NA											NA				105517442		2203	4300	6503	SO:0001819	synonymous_variant			AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484	29933	29933		GPCR / Class A : Orphans	17482	protein-coding gene	gene with protein product	G2 accumulation	606167			NA	12086852	Standard	NM_013345	NM_013345	NA	Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000392585.2:c.1005C>T	14.37:g.105517442G>A		NA	Q9BSU2	37																																																																																				GPR132-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000409279.1		-	ENST00000392585.2	Silent	SNP	14 : 105517442 - 105517442 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	17
TNKS1BP1	85456	broad.mit.edu	37	11	57068363	57068363	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57068363G>A	ENST00000532437.1	-	9	5435	c.5124C>T	c.(5122-5124)tcC>tcT	p.S1708S	TNKS1BP1_ENST00000358252.3_Silent_p.S1708S			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1708	Arg/Glu/Lys-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CCTACCCTGAGGATTTCTCTG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	142	149			NA	NA	11		NA											NA				57068363		2201	4296	6497	SO:0001819	synonymous_variant			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115	85456	85456			19081	protein-coding gene	gene with protein product		607104			NA	11854288	Standard	NM_033396	NM_033396	NA	Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.5124C>T	11.37:g.57068363G>A		NA	A7E2F8|Q6PJ35|Q6ZV74	37	CCDS7951.1																																																																																			TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392455.1		-	ENST00000532437.1	Silent	SNP	11 : 57068363 - 57068363 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	903	169
PDE11A	50940	broad.mit.edu	37	2	178592804	178592804	+	Missense_Mutation	SNP	G	G	A	rs142279060		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178592804G>A	ENST00000286063.6	-	11	2202	c.1885C>T	c.(1885-1887)Cgg>Tgg	p.R629W	PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Missense_Mutation_p.R271W|PDE11A_ENST00000449286.2_Missense_Mutation_p.R271W|PDE11A_ENST00000389683.3_Missense_Mutation_p.R185W|PDE11A_ENST00000358450.4_Missense_Mutation_p.R379W	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	NA					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			ATGAACATCCGGAGAGCAGCT	0.468		NA							Primary Pigmented Nodular Adrenocortical Disease, Familial					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	91	86	88		553,1135,811,1885	5.5	1	2	dbSNP_134	88	0,8600		0,0,4300	yes	missense,missense,missense,missense	PDE11A	NM_001077196.1,NM_001077197.1,NM_001077358.1,NM_016953.3	101,101,101,101	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	185/490,379/684,271/576,629/934	178592804	1,13005	2203	4300	6503	SO:0001583	missense	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	50940	50940	3.1.4.17	Phosphodiesterases	8773	protein-coding gene	gene with protein product		604961			NA	10725373	Standard		NM_001077196	NA	Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1885C>T	2.37:g.178592804G>A	ENSP00000286063:p.Arg629Trp	NA	Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	37	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376199	0.82682	2.27E-4	0.0	ENSG00000128655	ENST00000286063;ENST00000358450;ENST00000409504;ENST00000389683;ENST00000449286	T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13	5.54	5.54	0.83059	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.85682	D	0.000000	D	0.88654	0.6495	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.979	D	0.89515	0.3774	10	0.87932	D	0	.	19.4884	0.95039	0.0:0.0:1.0:0.0	.	379;629	Q9HCR9-2;Q9HCR9	.;PDE11_HUMAN	W	629;379;271;185;271	ENSP00000286063:R629W;ENSP00000351232:R379W;ENSP00000386539:R271W;ENSP00000374333:R185W;ENSP00000390599:R271W	ENSP00000286063:R629W	R	-	1	2	PDE11A	178301050	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	4.344000	0.59354	2.609000	0.88269	0.563000	0.77884	CGG	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334313.2		-	ENST00000286063.6	Missense_Mutation	SNP	2 : 178592804 - 178592804 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	106
ZNF559	84527	broad.mit.edu	37	19	9453386	9453386	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9453386G>A	ENST00000586255.1	+	6	657				ZNF559_ENST00000603380.1_Missense_Mutation_p.R420Q|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000587557.1_Missense_Mutation_p.R484Q|ZNF559_ENST00000393883.2_Missense_Mutation_p.R420Q|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000538743.1_Missense_Mutation_p.R340Q|ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000602856.1_Intron			Q9BR84	ZN559_HUMAN	zinc finger protein 559	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						GCCTTCATTCGATCCTCATTT	0.418		NA											G	1	5e-04	NA	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0													82	65	71			NA	NA	19		NA											NA				9453386		2203	4300	6503	SO:0001627	intron_variant			AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321	84527	84527		Zinc fingers, C2H2-type, -	28197	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_032497	NM_001202406	NA	Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000586255.1:c.327+1526G>A	19.37:g.9453386G>A		NA		37		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	2.445	-0.327701	0.05314	.	.	ENSG00000188321	ENST00000317221;ENST00000538743;ENST00000393883	T;T	0.15017	2.46;2.46	2.22	-4.44	0.03557	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12263	0.0298	N	0.17278	0.47	0.09310	N	1	P;D;P	0.76494	0.937;0.999;0.544	B;P;B	0.61592	0.162;0.891;0.032	T	0.05750	-1.0866	9	0.02654	T	1	.	3.6878	0.08335	0.2228:0.0:0.325:0.4522	.	420;420;340	B3KPL8;Q9BR84;B4DP29	.;ZN559_HUMAN;.	Q	420;340;420	ENSP00000442832:R340Q;ENSP00000377461:R420Q	ENSP00000325393:R420Q	R	+	2	0	ZNF559	9314386	0.000000	0.05858	0.000000	0.03702	0.305000	0.27757	-2.816000	0.00752	-1.259000	0.02468	0.313000	0.20887	CGA	ZNF559-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000449016.2		+	ENST00000586255.1	Intron	SNP	19 : 9453386 - 9453386 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	352	69
PER2	8864	broad.mit.edu	37	2	239161789	239161789	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239161789G>T	ENST00000254657.3	-	19	3154	c.2875C>A	c.(2875-2877)Cca>Aca	p.P959T	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	959	Pro-rich.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CAAGCACATGGCTGTCTGGGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	48	48			NA	NA	2		NA											NA				239161789		2203	4300	6503	SO:0001583	missense			AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326	8864	8864			8846	protein-coding gene	gene with protein product		603426	period (Drosophila) homolog 2, period homolog 2 (Drosophila)		NA	9427249, 17218255	Standard	NM_022817	NM_022817	NA	Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.2875C>A	2.37:g.239161789G>T	ENSP00000254657:p.Pro959Thr	NA	A2I2P7|Q4ZG49|Q9UQ45	37	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	G	2.933	-0.220607	0.06061	.	.	ENSG00000132326	ENST00000254657	T	0.11821	2.74	4.24	2.43	0.29744	.	3.118280	0.01951	U	0.042658	T	0.20251	0.0487	M	0.75264	2.295	0.09310	N	0.999999	B;B	0.30068	0.267;0.164	B;B	0.28139	0.086;0.06	T	0.26292	-1.0107	10	0.38643	T	0.18	-9.1142	6.8517	0.24018	0.3024:0.0:0.6976:0.0	.	959;959	B4DH14;O15055	.;PER2_HUMAN	T	959	ENSP00000254657:P959T	ENSP00000254657:P959T	P	-	1	0	PER2	238826528	0.035000	0.19736	0.002000	0.10522	0.034000	0.12701	1.910000	0.39927	0.514000	0.28300	-0.126000	0.14955	CCA	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257167.1		-	ENST00000254657.3	Missense_Mutation	SNP	2 : 239161789 - 239161789 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	407	128
ZNF480	147657	broad.mit.edu	37	19	52825079	52825079	+	Missense_Mutation	SNP	A	A	C	rs149769756		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52825079A>C	ENST00000490272.1	+	0	384				CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000334564.7_Missense_Mutation_p.Q149H|ZNF480_ENST00000335090.6_Missense_Mutation_p.Q115H|ZNF480_ENST00000595962.1_Missense_Mutation_p.Q192H			Q8WV37	ZN480_HUMAN	zinc finger protein 480	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TTCTCCCACAAGAACAGAAAG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	85	85			NA	NA	19		NA											NA				52825079		2203	4300	6503	SO:0001624	3_prime_UTR_variant			AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464	147657	147657		Zinc fingers, C2H2-type, -	23305	protein-coding gene	gene with protein product		613910			NA	15219843	Standard	NM_144684	XM_005258525	NA	Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000490272.1:c.*134A>C	19.37:g.52825079A>C		NA	Q5JPG9|Q6P0Q4|Q8N1M5	37		.	.	.	.	.	.	.	.	.	.	A	10.06	1.247096	0.22796	.	.	ENSG00000198464	ENST00000468240;ENST00000334564;ENST00000335090	T;T;T	0.28895	1.59;3.28;3.12	1.99	-2.69	0.06022	.	.	.	.	.	T	0.26484	0.0647	L	0.48218	1.51	0.09310	N	1	B;D	0.62365	0.191;0.991	B;P	0.49012	0.093;0.598	T	0.08889	-1.0700	9	0.45353	T	0.12	.	2.2863	0.04127	0.4394:0.0:0.3282:0.2324	.	149;192	F8WEZ9;Q8WV37	.;ZN480_HUMAN	H	192;149;115	ENSP00000417424:Q192H;ENSP00000334164:Q149H;ENSP00000335670:Q115H	ENSP00000334164:Q149H	Q	+	3	2	ZNF480	57516891	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.832000	0.04400	-1.193000	0.02688	-1.645000	0.00762	CAA	ZNF480-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000349002.1		+	ENST00000490272.1	3'UTR	SNP	19 : 52825079 - 52825079 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	423	61
ADH7	131	broad.mit.edu	37	4	100341936	100341936	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100341936G>T	ENST00000437033.2	-	6	1082	c.579C>A	c.(577-579)tcC>tcA	p.S193S	ADH7_ENST00000476959.1_Silent_p.S213S|ADH7_ENST00000482593.1_Silent_p.S136S|ADH7_ENST00000209665.4_Silent_p.S205S			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	205					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	CGACGCAAGTGGAACCAGGTT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	58	61			NA	NA	4		NA											NA				100341936		2203	4300	6503	SO:0001819	synonymous_variant			X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	131	131	1.1.1.1	Alcohol dehydrogenases	256	protein-coding gene	gene with protein product		600086			NA	8195208	Standard	NM_000673	NM_000673	NA	Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000437033.2:c.579C>A	4.37:g.100341936G>T		NA	A2RRB6|B2R760|Q13713	37																																																																																				ADH7-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000354562.1		-	ENST00000437033.2	Silent	SNP	4 : 100341936 - 100341936 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	215	38
ABCG4	64137	broad.mit.edu	37	11	119030980	119030980	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119030980C>T	ENST00000449422.2	+	13	1669	c.1481C>T	c.(1480-1482)aCg>aTg	p.T494M	ABCG4_ENST00000307417.3_Missense_Mutation_p.T494M|ABCG4_ENST00000531739.1_Missense_Mutation_p.T494M	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	494	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	p.T494M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TACTGGATGACGGGCCAGCCC	0.647		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)						C	MET/THR,MET/THR	1,4399	2.1+/-5.4	0,1,2199	83	74	77		1481,1481	5.2	1	11		77	0,8590		0,0,4295	yes	missense,missense	ABCG4	NM_001142505.1,NM_022169.4	81,81	0,1,6494	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging	494/647,494/647	119030980	1,12989	2200	4295	6495	SO:0001583	missense			AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350	64137	64137		ATP binding cassette transporters / subfamily G	13884	protein-coding gene	gene with protein product	putative ABC transporter, ATP-binding cassette, subfamily G, member 4	607784			NA	11435397	Standard	NM_022169	NM_022169	NA	Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1481C>T	11.37:g.119030980C>T	ENSP00000406874:p.Thr494Met	NA	A8K1B5	37	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	C	33	5.223466	0.95139	2.27E-4	0.0	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.73047	-0.71;-0.71;-0.71	5.2	5.2	0.72013	ABC-2 type transporter (1);	0.000000	0.85682	D	0.000000	D	0.85452	0.5700	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86992	0.2111	10	0.87932	D	0	-9.1283	18.9923	0.92798	0.0:1.0:0.0:0.0	.	494	Q9H172	ABCG4_HUMAN	M	494	ENSP00000304111:T494M;ENSP00000406874:T494M;ENSP00000434318:T494M	ENSP00000304111:T494M	T	+	2	0	ABCG4	118536190	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	7.629000	0.83207	2.720000	0.93068	0.558000	0.71614	ACG	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388215.1		+	ENST00000449422.2	Missense_Mutation	SNP	11 : 119030980 - 119030980 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	642	99
NUP210	23225	broad.mit.edu	37	3	13381381	13381381	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:13381381C>A	ENST00000254508.5	-	25	3526	c.3444G>T	c.(3442-3444)gaG>gaT	p.E1148D	NUP210_ENST00000485755.1_5'UTR	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1148					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					ccttgccGGTCTCTGCATCCA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	102	104			NA	NA	3		NA											NA				13381381		2203	4300	6503	SO:0001583	missense			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182	23225	23225			30052	protein-coding gene	gene with protein product		607703			NA	2184032, 7504063	Standard	NM_024923	NM_024923	NA	Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.3444G>T	3.37:g.13381381C>A	ENSP00000254508:p.Glu1148Asp	NA	A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	37	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	9.647	1.140653	0.21205	.	.	ENSG00000132182	ENST00000254508	T	0.43688	0.94	5.19	3.38	0.38709	Bacterial Ig-like, group 2 (2);	0.000000	0.85682	D	0.000000	T	0.41026	0.1141	L	0.28740	0.885	0.50313	D	0.999862	D	0.69078	0.997	D	0.66497	0.944	T	0.35699	-0.9778	10	0.11794	T	0.64	-27.8704	5.6999	0.17877	0.0:0.6331:0.1434:0.2235	.	1148	Q8TEM1	PO210_HUMAN	D	1148	ENSP00000254508:E1148D	ENSP00000254508:E1148D	E	-	3	2	NUP210	13356381	1.000000	0.71417	0.880000	0.34516	0.450000	0.32258	0.943000	0.29030	0.574000	0.29417	0.655000	0.94253	GAG	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340085.1		-	ENST00000254508.5	Missense_Mutation	SNP	3 : 13381381 - 13381381 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	904	224
COL4A6	1288	broad.mit.edu	37	X	107417832	107417832	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107417832A>G	ENST00000334504.7	-	31	3209	c.2976T>C	c.(2974-2976)ggT>ggC	p.G992G	COL4A6_ENST00000545689.1_Silent_p.G992G|COL4A6_ENST00000372216.4_Silent_p.G993G|COL4A6_ENST00000394872.2_Silent_p.G993G|COL4A6_ENST00000538570.1_Silent_p.G992G	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	993	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GTCCAGGTCGACCAGCCTCTC	0.547		NA							Alport syndrome with Diffuse Leiomyomatosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(87;1895 1945 2589 7165)							NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001819	synonymous_variant	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565	1288	1288		Collagens	2208	protein-coding gene	gene with protein product		303631			NA	8356449	Standard		NM_033641	NA	Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000334504.7:c.2976T>C	X.37:g.107417832A>G		NA	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	37	CCDS14542.1																																																																																			COL4A6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057876.2		-	ENST00000334504.7	Silent	SNP	X : 107417832 - 107417832 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	216	65
OR4D5	219875	broad.mit.edu	37	11	123811251	123811251	+	Missense_Mutation	SNP	G	G	T	rs143337717		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123811251G>T	ENST00000307033.2	+	1	1002	c.928G>T	c.(928-930)Ggt>Tgt	p.G310C		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGACCCTATTGGTCCCCTGGA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/GLY	0,4404		0,0,2202	63	64	64		928	0.9	0	11	dbSNP_134	64	1,8597	1.2+/-3.3	0,1,4298	no	missense	OR4D5	NM_001001965.1	159	0,1,6500	TT,TG,GG	NA	0.0116,0.0,0.0077	possibly-damaging	310/319	123811251	1,13001	2202	4299	6501	SO:0001583	missense			BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014	219875	219875		GPCR / Class A : Olfactory receptors	14852	protein-coding gene	gene with protein product					NA		Standard	NM_001001965	NM_001001965	NA	Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.928G>T	11.37:g.123811251G>T	ENSP00000305970:p.Gly310Cys	NA	B9EGZ4|Q6IFE6	37	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732086	0.30684	0.0	1.16E-4	ENSG00000171014	ENST00000307033	T	0.00291	8.27	4.06	0.94	0.19513	.	1.922100	0.03237	U	0.179774	T	0.00178	0.0005	L	0.27053	0.805	0.09310	N	1	P	0.51933	0.949	B	0.39185	0.293	T	0.43048	-0.9415	10	0.72032	D	0.01	1.7891	4.7886	0.13238	0.2185:0.1741:0.6074:0.0	.	310	Q8NGN0	OR4D5_HUMAN	C	310	ENSP00000305970:G310C	ENSP00000305970:G310C	G	+	1	0	OR4D5	123316461	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.090000	0.15025	0.080000	0.16959	-1.109000	0.02080	GGT	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387263.1		+	ENST00000307033.2	Missense_Mutation	SNP	11 : 123811251 - 123811251 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	436	79
PCK2	5106	broad.mit.edu	37	14	24566204	24566204	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24566204C>T	ENST00000560657.1	+	0	491				PCK2_ENST00000545054.2_5'UTR|PCK2_ENST00000561286.1_Intron|PCK2_ENST00000558096.1_5'UTR|NRL_ENST00000561028.1_Intron|PCK2_ENST00000216780.4_Nonsense_Mutation_p.R45*|PCK2_ENST00000396973.4_Nonsense_Mutation_p.R45*|PCK2_ENST00000559250.1_Nonsense_Mutation_p.R57*			Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	NA					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		CACTGGCATTCGAGATTTTGT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	84	88			NA	NA	14		NA											NA				24566204		2203	4300	6503	SO:0001624	3_prime_UTR_variant			AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	5106	5106	4.1.1.32		8725	protein-coding gene	gene with protein product		614095			NA	8645161, 9657976	Standard	NM_001018073	XM_005267726	NA	Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000560657.1:c.*488C>T	14.37:g.24566204C>T		NA	O43253|Q86U01|Q9BV62	37		.	.	.	.	.	.	.	.	.	.	C	16.01	3.000904	0.54254	.	.	ENSG00000100889	ENST00000216780;ENST00000396973	.	.	.	5.52	4.58	0.56647	.	0.179793	0.47852	D	0.000211	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.0504	12.1787	0.54199	0.2581:0.7419:0.0:0.0	.	.	.	.	X	45	.	ENSP00000216780:R45X	R	+	1	2	PCK2	23636044	0.569000	0.26643	0.955000	0.39395	0.004000	0.04260	0.894000	0.28350	2.746000	0.94184	0.650000	0.86243	CGA	PCK2-016	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000416438.1		+	ENST00000560657.1	3'UTR	SNP	14 : 24566204 - 24566204 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	389	93
ANO2	57101	broad.mit.edu	37	12	5841705	5841705	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:5841705G>A	ENST00000356134.5	-	16	1600	c.1529C>T	c.(1528-1530)aCg>aTg	p.T510M	ANO2_ENST00000327087.8_Missense_Mutation_p.T509M|ANO2_ENST00000546188.1_Missense_Mutation_p.T510M|ANO2_ENST00000538154.1_5'UTR	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	514						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ACACTCCGTCGTGTTTGTTTC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	113	113			NA	NA	12		NA											NA				5841705		2052	4196	6248	SO:0001583	missense			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617	57101	57101		Ion channels / Chloride channels : Calcium activated : Anoctamins	1183	protein-coding gene	gene with protein product	transmembrane protein 16B (eight membrane-spanning domains)	610109	chromosome 12 open reading frame 3, transmembrane protein 16B, anoctamin 2	C12orf3, TMEM16B	NA	12739008, 15067359, 24692353	Standard	NM_020373	NM_001278596	NA	Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1529C>T	12.37:g.5841705G>A	ENSP00000348453:p.Thr510Met	NA	C4N787|Q9H847	37		.	.	.	.	.	.	.	.	.	.	G	6.554	0.470520	0.12461	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277;ENST00000545860	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	4.62	-3.57	0.04612	.	1.022950	0.07770	N	0.951566	T	0.35653	0.0939	N	0.14661	0.345	0.09310	N	1	B	0.13594	0.008	B	0.15484	0.013	T	0.13415	-1.0510	10	0.30854	T	0.27	.	1.7965	0.03062	0.3634:0.1684:0.3517:0.1165	.	509	Q9NQ90-3	.	M	509;510;510;514;69	ENSP00000314048:T509M;ENSP00000348453:T510M;ENSP00000440981:T510M;ENSP00000443813:T69M	ENSP00000314048:T509M	T	-	2	0	ANO2	5711966	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.636000	0.05465	-0.560000	0.06102	-0.119000	0.15052	ACG	ANO2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000399019.4		-	ENST00000356134.5	Missense_Mutation	SNP	12 : 5841705 - 5841705 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	256	41
GIMAP1	170575	broad.mit.edu	37	7	150417696	150417696	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150417696G>A	ENST00000307194.5	+	3	744	c.604G>A	c.(604-606)Gag>Aag	p.E202K		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1	NA										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCCCAGGTGGAGCAGCTGCT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	29	27			NA	NA	7		NA											NA				150417696		2202	4300	6502	SO:0001583	missense			AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203	170575	170575		GTPases, IMAP	23237	protein-coding gene	gene with protein product	immune-associated nucleotide-binding protein 2	608084			NA	15474311, 18701445	Standard	NM_130759	NM_130759	NA	Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.604G>A	7.37:g.150417696G>A	ENSP00000302833:p.Glu202Lys	NA		37	CCDS5906.1	.	.	.	.	.	.	.	.	.	.	G	0.104	-1.148281	0.01714	.	.	ENSG00000213203	ENST00000307194	T	0.05081	3.5	4.81	-9.61	0.00550	AIG1 (1);	1.483890	0.04627	U	0.402865	T	0.01730	0.0055	N	0.01640	-0.785	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.42120	-0.9470	10	0.02654	T	1	.	9.6635	0.39969	0.3531:0.5014:0.1455:0.0	.	202	Q8WWP7	GIMA1_HUMAN	K	202	ENSP00000302833:E202K	ENSP00000302833:E202K	E	+	1	0	GIMAP1	150048629	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-2.913000	0.00697	-2.035000	0.00923	-0.172000	0.13284	GAG	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348951.2		+	ENST00000307194.5	Missense_Mutation	SNP	7 : 150417696 - 150417696 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	184	27
PRDM9	56979	broad.mit.edu	37	5	23509692	23509692	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:23509692G>A	ENST00000296682.3	+	3	365	c.183G>A	c.(181-183)ctG>ctA	p.L61L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	61	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATAATGCACTGATTACTATAG	0.433		NA								HNSCC(3;0.000094)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	144	147			NA	NA	5		NA											NA				23509692		1868	4113	5981	SO:0001819	synonymous_variant			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256	56979	56979		-, Zinc fingers, C2H2-type	13994	protein-coding gene	gene with protein product	PR-domain containing protein 9	609760	minisatellite binding protein 3, 115kDa, minisatellite binding protein 3 (115kD)	MSBP3	NA	10668202, 2062643, 24634223	Standard	NM_020227	NM_020227	NA	Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.183G>A	5.37:g.23509692G>A		NA	B4DX22|Q27Q50	37	CCDS43307.1																																																																																			PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366375.1		+	ENST00000296682.3	Silent	SNP	5 : 23509692 - 23509692 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	496	100
INTS10	55174	broad.mit.edu	37	8	19689592	19689592	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19689592A>C	ENST00000397977.3	+	11	1746	c.1348A>C	c.(1348-1350)Atc>Ctc	p.I450L		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	450					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TTGGTTAAGAATCTTCCTCAC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	138	141			NA	NA	8		NA											NA				19689592		1930	4124	6054	SO:0001583	missense			AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613	55174	55174			25548	protein-coding gene	gene with protein product		611353	chromosome 8 open reading frame 35	C8orf35	NA	16239144	Standard	NM_018142	XM_005273558	NA	Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.1348A>C	8.37:g.19689592A>C	ENSP00000381064:p.Ile450Leu	NA	Q6IA93|Q7L538|Q7L8C8|Q9H3W8	37	CCDS6011.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	12.59|12.59|12.59	1.982892|1.982892|1.982892	0.34942|0.34942|0.34942	.|.|.	.|.|.	ENSG00000104613|ENSG00000104613|ENSG00000104613	ENST00000523846|ENST00000397977|ENST00000518799	.|.|.	.|.|.	.|.|.	5.82|5.82|5.82	5.82|5.82|5.82	0.92795|0.92795|0.92795	.|.|.	.|0.046970|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.58481|0.58481|0.58481	0.2125|0.2125|0.2125	L|L|L	0.38531|0.38531|0.38531	1.155|1.155|1.155	0.58432|0.58432|0.58432	D|D|D	0.999998|0.999998|0.999998	.|B|.	.|0.12013|.	.|0.005|.	.|B|.	.|0.12156|.	.|0.007|.	T|T|T	0.55055|0.55055|0.55055	-0.8200|-0.8200|-0.8200	5|9|5	.|0.40728|.	.|T|.	.|0.16|.	-25.6753|-25.6753|-25.6753	14.9937|14.9937|14.9937	0.71412|0.71412|0.71412	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	.|450|.	.|Q9NVR2|.	.|INT10_HUMAN|.	D|L|T	225|450|32	.|.|.	.|ENSP00000381064:I450L|.	E|I|N	+|+|+	3|1|2	2|0|0	INTS10|INTS10|INTS10	19733872|19733872|19733872	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	7.036000|7.036000|7.036000	0.76524|0.76524|0.76524	2.221000|2.221000|2.221000	0.72209|0.72209|0.72209	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	GAA|ATC|AAT	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253724.2		+	ENST00000397977.3	Missense_Mutation	SNP	8 : 19689592 - 19689592 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	27
SESN2	83667	broad.mit.edu	37	1	28601432	28601432	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28601432C>A	ENST00000253063.3	+	8	1438	c.1117C>A	c.(1117-1119)Ctc>Atc	p.L373I		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	373					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		AGCCTATAGCCTCACCTACAA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	94	101			NA	NA	1		NA											NA				28601432		2203	4300	6503	SO:0001583	missense			AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766	83667	83667			20746	protein-coding gene	gene with protein product		607767			NA	12607115, 12203114	Standard		NM_031459	NA	Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.1117C>A	1.37:g.28601432C>A	ENSP00000253063:p.Leu373Ile	NA	Q5T7D0|Q96SI5	37	CCDS321.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671385	0.67814	.	.	ENSG00000130766	ENST00000253063	T	0.39787	1.06	5.18	2.27	0.28462	.	0.067603	0.64402	D	0.000018	T	0.50616	0.1626	M	0.82132	2.575	0.58432	D	0.999999	P	0.51240	0.943	P	0.49421	0.61	T	0.54801	-0.8239	10	0.56958	D	0.05	-16.154	9.5751	0.39452	0.0:0.7637:0.0:0.2363	.	373	P58004	SESN2_HUMAN	I	373	ENSP00000253063:L373I	ENSP00000253063:L373I	L	+	1	0	SESN2	28474019	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	2.982000	0.49337	0.689000	0.31550	0.655000	0.94253	CTC	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000009840.1		+	ENST00000253063.3	Missense_Mutation	SNP	1 : 28601432 - 28601432 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	333	14
SCNN1A	6337	broad.mit.edu	37	12	6457292	6457292	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6457292C>T	ENST00000543768.1	-	13	1918	c.1826G>A	c.(1825-1827)cGa>cAa	p.R609Q	SCNN1A_ENST00000228916.2_Missense_Mutation_p.R586Q|SCNN1A_ENST00000358945.3_Missense_Mutation_p.R608Q|SCNN1A_ENST00000360168.3_Missense_Mutation_p.R645Q|SCNN1A_ENST00000540037.1_Missense_Mutation_p.R286Q|SCNN1A_ENST00000396966.2_3'UTR	NM_001159575.1	NP_001153047.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	586					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	TCGGAACCTTCGGAGCAGCAT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	53	53			NA	NA	12		NA											NA				6457292		2203	4300	6503	SO:0001583	missense			Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319	NA	6337		Ion channels / Sodium channel, nonvoltage-gated, Sodium channels	10599	protein-coding gene	gene with protein product		600228	sodium channel, nonvoltage-gated 1 alpha, sodium channel, non-voltage-gated 1 alpha	SCNN1	NA	7896277	Standard		NM_001038	NA	Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000543768.1:c.1826G>A	12.37:g.6457292C>T	ENSP00000438739:p.Arg609Gln	NA	A5X2U9|C5HTZ0|O43271|Q6GSQ6|Q9UM64	37	CCDS53739.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563445	0.45694	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000540037;ENST00000228916;ENST00000543768	T;T;T;T;T	0.72615	-0.63;-0.67;-0.42;-0.63;-0.62	4.54	3.62	0.41486	.	0.121926	0.37178	N	0.002204	T	0.60051	0.2239	L	0.58669	1.825	0.27237	N	0.959242	D;P;B	0.52996	0.957;0.858;0.414	B;B;B	0.36378	0.223;0.163;0.084	T	0.56141	-0.8028	10	0.35671	T	0.21	-15.5739	10.7741	0.46340	0.0:0.9035:0.0:0.0965	.	609;586;645	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	Q	645;608;286;586;609	ENSP00000353292:R645Q;ENSP00000351825:R608Q;ENSP00000440876:R286Q;ENSP00000228916:R586Q;ENSP00000438739:R609Q	ENSP00000228916:R586Q	R	-	2	0	SCNN1A	6327553	1.000000	0.71417	0.996000	0.52242	0.632000	0.37999	1.091000	0.30915	0.879000	0.35944	0.561000	0.74099	CGA	SCNN1A-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399058.1		-	ENST00000543768.1	Missense_Mutation	SNP	12 : 6457292 - 6457292 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	257	15
OR4A15	81328	broad.mit.edu	37	11	55135508	55135508	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55135508A>C	ENST00000314706.3	+	1	149	c.149A>C	c.(148-150)gAg>gCg	p.E50A		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CAGAACCCTGAGGGGCAAAAG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	65	67			NA	NA	11		NA											NA				55135508		2201	4296	6497	SO:0001583	missense			AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958	81328	81328		GPCR / Class A : Olfactory receptors	15152	protein-coding gene	gene with protein product					NA		Standard	NM_001005275	NM_001005275	NA	Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.149A>C	11.37:g.55135508A>C	ENSP00000325065:p.Glu50Ala	NA	Q6IFL4|Q96R65	37	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	a	6.125	0.391311	0.11581	.	.	ENSG00000181958	ENST00000314706	T	0.00438	7.42	3.48	0.908	0.19326	.	0.125811	0.35495	N	0.003167	T	0.00384	0.0012	M	0.70842	2.15	0.09310	N	1	B	0.14438	0.01	B	0.16289	0.015	T	0.43343	-0.9397	10	0.36615	T	0.2	.	7.5998	0.28069	0.5696:0.4304:0.0:0.0	.	50	Q8NGL6	O4A15_HUMAN	A	50	ENSP00000325065:E50A	ENSP00000325065:E50A	E	+	2	0	OR4A15	54892084	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.029000	0.13666	-0.017000	0.14103	-0.677000	0.03784	GAG	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391161.1		+	ENST00000314706.3	Missense_Mutation	SNP	11 : 55135508 - 55135508 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	346	58
MRPL47	57129	broad.mit.edu	37	3	179320442	179320442	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179320442G>T	ENST00000476781.1	-	2	271	c.242C>A	c.(241-243)tCt>tAt	p.S81Y	MRPL47_ENST00000392659.2_Intron|MRPL47_ENST00000259038.2_Missense_Mutation_p.S61Y	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	81					translation	mitochondrial ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			TATCTCACCAGATTTTACTTT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	70	69			NA	NA	3		NA											NA				179320442		2203	4299	6502	SO:0001583	missense			AF285120	CCDS3232.1, CCDS3233.1	3q26.33	2012-11-14			ENSG00000136522	ENSG00000136522	57129	57129		Mitochondrial ribosomal proteins / large subunits	16652	protein-coding gene	gene with protein product	nasopharyngeal carcinoma metastasis-related 1	611852			NA	11551941	Standard	NM_020409	NM_177988	NA	Approved	CGI-204, NCM1	uc003fjz.3	Q9HD33	OTTHUMG00000157784	ENST00000476781.1:c.242C>A	3.37:g.179320442G>T	ENSP00000417602:p.Ser81Tyr	NA	Q6XRG1|Q8N5D1	37	CCDS3232.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872083	0.72180	.	.	ENSG00000136522	ENST00000476781;ENST00000259038	T;T	0.33865	1.39;1.42	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.46521	0.1397	L	0.41415	1.275	0.80722	D	1	D;D	0.61080	0.966;0.989	P;D	0.69307	0.831;0.963	T	0.22730	-1.0208	10	0.02654	T	1	-23.0982	17.9188	0.88960	0.0:0.0:1.0:0.0	.	61;81	Q9HD33-2;Q9HD33	.;RM47_HUMAN	Y	81;61	ENSP00000417602:S81Y;ENSP00000259038:S61Y	ENSP00000259038:S61Y	S	-	2	0	MRPL47	180803136	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.879000	0.75572	2.511000	0.84671	0.650000	0.86243	TCT	MRPL47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349623.1		-	ENST00000476781.1	Missense_Mutation	SNP	3 : 179320442 - 179320442 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	387	79
AUTS2	26053	broad.mit.edu	37	7	70255978	70255978	+	Missense_Mutation	SNP	G	G	A	rs148604002		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:70255978G>A	ENST00000342771.4	+	19	4097	c.3776G>A	c.(3775-3777)cGa>cAa	p.R1259Q	AUTS2_ENST00000406775.2_Missense_Mutation_p.R1235Q	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1259										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ATCGAGGCCCGATAAGCCGAG	0.602		NA											G	2	9e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	0.0013	NA	NA	9e-04	1	LOWCOV,EXOME	NA	NA	7e-04	SNP								NA				0								G	GLN/ARG,GLN/ARG	0,4404		0,0,2202	20	22	21		3704,3776	5.1	0.2	7	dbSNP_134	21	2,8592		0,2,4295	yes	missense,missense	AUTS2	NM_001127231.1,NM_015570.2	43,43	0,2,6497	AA,AG,GG	NA	0.0233,0.0,0.0154	probably-damaging,probably-damaging	1235/1236,1259/1260	70255978	2,12996	2202	4297	6499	SO:0001583	missense			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321	26053	26053			14262	protein-coding gene	gene with protein product		607270			NA	12160723	Standard		XM_005250257	NA	Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.3776G>A	7.37:g.70255978G>A	ENSP00000344087:p.Arg1259Gln	NA	A4D1Y9|Q5D049|Q9Y4F2	37	CCDS5539.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	19.09	3.759010	0.69763	0.0	2.33E-4	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.65364	-0.11;-0.15	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.75925	0.3916	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.83275	0.996;0.99;0.99	T	0.74671	-0.3587	9	.	.	.	.	18.5749	0.91151	0.0:0.0:1.0:0.0	.	711;1235;1259	B4DLG0;Q8WXX7-2;Q8WXX7	.;.;AUTS2_HUMAN	Q	1235;1259	ENSP00000385263:R1235Q;ENSP00000344087:R1259Q	.	R	+	2	0	AUTS2	69893914	1.000000	0.71417	0.192000	0.23308	0.238000	0.25445	7.416000	0.80143	2.391000	0.81399	0.655000	0.94253	CGA	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251971.2		+	ENST00000342771.4	Missense_Mutation	SNP	7 : 70255978 - 70255978 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	107	14
RBM8A	9939	broad.mit.edu	37	1	145508545	145508545	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145508545A>C	ENST00000330165.8	+	4	345	c.276A>C	c.(274-276)aaA>aaC	p.K92N	RBM8A_ENST00000369307.3_Missense_Mutation_p.K91N	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A	NA	RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	mRNA binding|nucleotide binding|protein binding			kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TACACGACAAATTCGCAGAAT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	100	102			NA	NA	1		NA											NA				145508545		2203	4300	6503	SO:0001583	missense			AF127761	CCDS72872.1	1q21.1	2013-02-12			ENSG00000131795		9939	9939		RNA binding motif (RRM) containing	9905	protein-coding gene	gene with protein product		605313		RBM8	NA	11004516, 11013075	Standard	NM_005105	NM_005105	NA	Approved	ZNRP, BOV-1A, BOV-1B, BOV-1C, RBM8B, Y14	uc001ent.2	Q9Y5S9	OTTHUMG00000013736	ENST00000330165.8:c.276A>C	1.37:g.145508545A>C	ENSP00000333001:p.Lys92Asn	NA	B3KQI9|Q6FHD1|Q6IQ40|Q9GZX8|Q9NZI4	37	CCDS916.1	.	.	.	.	.	.	.	.	.	.	A	15.06	2.720441	0.48728	.	.	ENSG00000131795	ENST00000330165;ENST00000369307	T;T	0.15952	2.38;2.38	4.32	1.93	0.25924	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.055524	0.64402	D	0.000001	T	0.05456	0.0144	L	0.40543	1.245	0.58432	D	0.999998	B;B	0.28760	0.185;0.221	B;B	0.32762	0.094;0.152	T	0.20207	-1.0282	10	0.41790	T	0.15	-8.5494	5.7489	0.18136	0.7769:0.0:0.2231:0.0	.	91;92	Q9Y5S9-2;Q9Y5S9	.;RBM8A_HUMAN	N	92;91	ENSP00000333001:K92N;ENSP00000358313:K91N	ENSP00000333001:K92N	K	+	3	2	RBM8A	144219902	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	0.661000	0.25023	0.217000	0.20800	0.459000	0.35465	AAA	RBM8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000038503.2		+	ENST00000330165.8	Missense_Mutation	SNP	1 : 145508545 - 145508545 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	481	135
ELMO3	79767	broad.mit.edu	37	16	67233635	67233635	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67233635G>A	ENST00000360833.1	+	3	384	c.327G>A	c.(325-327)ggG>ggA	p.G109G	ELMO3_ENST00000393997.2_Silent_p.G109G|ELMO3_ENST00000477898.1_5'UTR			Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	56					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TTGCGGATGGGCACCGGAGAT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	59	56			NA	NA	16		NA											NA				67233635		2089	4202	6291	SO:0001819	synonymous_variant				CCDS10833.2	16q22.1	2010-03-18	2006-01-20		ENSG00000102890	ENSG00000102890	79767	79767		Engulfment and cell motility proteins	17289	protein-coding gene	gene with protein product		606422	engulfment and cell motility 3 (ced-12 homolog, C. elegans)		NA	11595183	Standard	NM_024712	NM_024712	NA	Approved	FLJ13824, CED12, ELMO-3, CED-12	uc002esa.3	Q96BJ8	OTTHUMG00000133570	ENST00000360833.1:c.327G>A	16.37:g.67233635G>A		NA	B4DV86|Q9H8A5	37																																																																																				ELMO3-001	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000257667.2		+	ENST00000360833.1	Silent	SNP	16 : 67233635 - 67233635 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	179	33
TRANK1	9881	broad.mit.edu	37	3	36872371	36872371	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36872371C>A	ENST00000428977.2	-	11	7196	c.6921G>T	c.(6919-6921)tgG>tgT	p.W2307C	TRANK1_ENST00000429976.2_Missense_Mutation_p.W2857C|TRANK1_ENST00000301807.6_Missense_Mutation_p.W2307C			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2857					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TACCGCCAGCCCAGGCCTTCC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	47	47			NA	NA	3		NA											NA				36872371		1957	4158	6115	SO:0001583	missense			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016	9881	9881		Ankyrin repeat domain containing, Tetratricopeptide (TTC) repeat domain containing	29011	protein-coding gene	gene with protein product	lupus brain antigen 1, KIAA0342				NA	9205841	Standard	NM_014831	NM_014831	NA	Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000428977.2:c.6921G>T	3.37:g.36872371C>A	ENSP00000416826:p.Trp2307Cys	NA	Q8N8K0	37		.	.	.	.	.	.	.	.	.	.	C	17.25	3.340832	0.60963	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.62498	0.02;0.43;0.02	5.22	5.22	0.72569	.	0.000000	0.56097	D	0.000038	T	0.72463	0.3463	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75425	-0.3322	10	0.87932	D	0	.	19.172	0.93581	0.0:1.0:0.0:0.0	.	2857	O15050	TRNK1_HUMAN	C	2307;2857;2307	ENSP00000416826:W2307C;ENSP00000416168:W2857C;ENSP00000301807:W2307C	ENSP00000301807:W2307C	W	-	3	0	TRANK1	36847375	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	5.359000	0.66074	2.607000	0.88179	0.561000	0.74099	TGG	TRANK1-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000369655.1		-	ENST00000428977.2	Missense_Mutation	SNP	3 : 36872371 - 36872371 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	279	61
TFAP2C	7022	broad.mit.edu	37	20	55206408	55206408	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:55206408C>T	ENST00000201031.2	+	2	439	c.196C>T	c.(196-198)Cag>Tag	p.Q66*	TFAP2C_ENST00000544508.1_5'UTR	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	66	Gln/Pro-rich (transactivation domain).				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			TCCCTACCAGCAGCTGGCCTA	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	31	31			NA	NA	20		NA											NA				55206408		2203	4300	6503	SO:0001587	stop_gained				CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510	7022	7022			11744	protein-coding gene	gene with protein product	estrogen receptor factor 1	601602	transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)		NA	8661133	Standard	NM_003222	NM_003222	NA	Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.196C>T	20.37:g.55206408C>T	ENSP00000201031:p.Gln66*	NA	O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	37	CCDS13454.1	.	.	.	.	.	.	.	.	.	.	C	37	6.629559	0.97718	.	.	ENSG00000087510	ENST00000201031;ENST00000416606	.	.	.	5.67	5.67	0.87782	.	0.215838	0.49916	D	0.000133	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-23.8604	19.7658	0.96340	0.0:1.0:0.0:0.0	.	.	.	.	X	66;54	.	ENSP00000201031:Q66X	Q	+	1	0	TFAP2C	54639815	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	6.977000	0.76141	2.683000	0.91414	0.561000	0.74099	CAG	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079823.2		+	ENST00000201031.2	Nonsense_Mutation	SNP	20 : 55206408 - 55206408 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	303	58
SPI1	6688	broad.mit.edu	37	11	47381477	47381477	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47381477C>T	ENST00000533030.1	-	2	215				SPI1_ENST00000533968.1_Missense_Mutation_p.R86H|SPI1_ENST00000378538.3_Missense_Mutation_p.R86H|SPI1_ENST00000227163.4_Missense_Mutation_p.R87H			P17947	SPI1_HUMAN	Spi-1 proto-oncogene	NA					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		CTCCATGTGGCGGTAGAGCTG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	48	51			NA	NA	11		NA											NA				47381477		2200	4298	6498	SO:0001627	intron_variant			X52056	CCDS7933.2, CCDS44591.1	11p12-p11.22	2014-06-25	2014-06-25		ENSG00000066336	ENSG00000066336	6688	6688			11241	protein-coding gene	gene with protein product	hematopoietic transcription factor PU.1, 31 kDa transforming protein	165170	spleen focus forming virus (SFFV) proviral integration oncogene		NA	1693183	Standard	NM_003120	NM_003120	NA	Approved	PU.1, SPI-A, OF, SFPI1, SPI-1	uc001nfb.1	P17947	OTTHUMG00000150150	ENST00000533030.1:c.46-4380G>A	11.37:g.47381477C>T		NA		37		.	.	.	.	.	.	.	.	.	.	C	21.0	4.082220	0.76528	.	.	ENSG00000066336	ENST00000378538;ENST00000227163;ENST00000533968	T;T	0.22336	1.96;1.97	3.59	3.59	0.41128	.	0.064020	0.64402	D	0.000012	T	0.42562	0.1208	M	0.75777	2.31	0.53688	D	0.999979	D;D;D	0.89917	1.0;0.996;1.0	D;P;D	0.71184	0.966;0.84;0.972	T	0.37663	-0.9696	10	0.15499	T	0.54	-27.9195	15.7696	0.78157	0.0:1.0:0.0:0.0	.	86;86;87	F5H3K6;P17947;P17947-2	.;SPI1_HUMAN;.	H	86;87;86	ENSP00000367799:R86H;ENSP00000227163:R87H	ENSP00000227163:R87H	R	-	2	0	SPI1	47338053	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.526000	0.45607	1.985000	0.57927	0.655000	0.94253	CGC	SPI1-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000395644.2		-	ENST00000533030.1	Intron	SNP	11 : 47381477 - 47381477 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	26
CYP20A1	57404	broad.mit.edu	37	2	204131313	204131313	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204131313G>A	ENST00000429815.2	+	5	590	c.509G>A	c.(508-510)gGt>gAt	p.G170D	CYP20A1_ENST00000356079.4_Missense_Mutation_p.G170D|CYP20A1_ENST00000461371.1_3'UTR			Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	170						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						CATATGCTTGGTTTTGCTATG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	131	134			NA	NA	2		NA											NA				204131313		2203	4300	6503	SO:0001583	missense			AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004	57404	57404		Cytochrome P450s	20576	protein-coding gene	gene with protein product					NA		Standard	NM_020674	NM_177538	NA	Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000429815.2:c.509G>A	2.37:g.204131313G>A	ENSP00000407860:p.Gly170Asp	NA	Q4ZG61|Q8N4Q8|Q8WWA9	37		.	.	.	.	.	.	.	.	.	.	G	24.2	4.504620	0.85176	.	.	ENSG00000119004	ENST00000356079;ENST00000421618;ENST00000429815;ENST00000443941	T;T;T	0.67345	-0.26;-0.26;-0.26	5.19	5.19	0.71726	.	0.168452	0.51477	D	0.000082	T	0.75474	0.3854	L	0.47716	1.5	0.58432	D	0.999999	D;P	0.62365	0.991;0.732	P;B	0.61070	0.883;0.377	T	0.75485	-0.3301	10	0.45353	T	0.12	-13.052	18.708	0.91645	0.0:0.0:1.0:0.0	.	170;170	E9PHG5;Q6UW02	.;CP20A_HUMAN	D	170	ENSP00000348380:G170D;ENSP00000407860:G170D;ENSP00000411341:G170D	ENSP00000348380:G170D	G	+	2	0	CYP20A1	203839558	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.123000	0.89586	2.383000	0.81215	0.650000	0.86243	GGT	CYP20A1-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000336102.1		+	ENST00000429815.2	Missense_Mutation	SNP	2 : 204131313 - 204131313 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	773	202
C17orf70	80233	broad.mit.edu	37	17	79514338	79514338	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79514338G>T	ENST00000327787.8	-	5	1816	c.1770C>A	c.(1768-1770)ggC>ggA	p.G590G	C17orf70_ENST00000537152.1_Silent_p.G439G|C17orf70_ENST00000425898.2_Silent_p.G239G			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	590					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GGTCGAGCCCGCCGTTCTCAC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	33	33			NA	NA	17		NA											NA				79514338		2201	4290	6491	SO:0001819	synonymous_variant			BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504	80233	80233			26171	protein-coding gene	gene with protein product	Fanconi anemia-associated protein, 100kDa	611301			NA	17396147	Standard	NM_025161	NM_025161	NA	Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.1770C>A	17.37:g.79514338G>T		NA	A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	37	CCDS32765.2																																																																																			C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396170.1		-	ENST00000327787.8	Silent	SNP	17 : 79514338 - 79514338 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	438	98
TYW1	55253	broad.mit.edu	37	7	66514984	66514984	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66514984G>A	ENST00000359626.5	+	8	1197	c.1033G>A	c.(1033-1035)Ggg>Agg	p.G345R		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	345					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CAGGAACATGGGGAGGAATGA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	57	57			NA	NA	7		NA											NA				66514984		2203	4296	6499	SO:0001583	missense			AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874	55253	55253			25598	protein-coding gene	gene with protein product	tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)	611243	radical S-adenosyl methionine and flavodoxin domains 1	RSAFD1	NA	16162496, 17150819	Standard	NM_018264	NM_018264	NA	Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1033G>A	7.37:g.66514984G>A	ENSP00000352645:p.Gly345Arg	NA	Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	37	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	G	3.073	-0.190598	0.06299	.	.	ENSG00000198874	ENST00000359626	T	0.17691	2.26	3.92	2.99	0.34606	.	0.653207	0.13336	U	0.395557	T	0.14960	0.0361	L	0.39898	1.24	0.30899	N	0.729503	B	0.25563	0.129	B	0.30029	0.11	T	0.18304	-1.0341	10	0.16420	T	0.52	.	11.1751	0.48595	0.0:0.1887:0.8113:0.0	.	345	Q9NV66	TYW1_HUMAN	R	345	ENSP00000352645:G345R	ENSP00000352645:G345R	G	+	1	0	TYW1	66152419	0.127000	0.22367	0.224000	0.23877	0.076000	0.17211	1.244000	0.32778	0.931000	0.37242	0.563000	0.77884	GGG	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251932.2		+	ENST00000359626.5	Missense_Mutation	SNP	7 : 66514984 - 66514984 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	51
PKD2L2	27039	broad.mit.edu	37	5	137243502	137243502	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137243502G>A	ENST00000508638.1	+	7	1102	c.1047G>A	c.(1045-1047)ttG>ttA	p.L349L	PKD2L2_ENST00000290431.5_Silent_p.L349L|PKD2L2_ENST00000502810.1_Silent_p.L327L|PKD2L2_ENST00000350250.4_Silent_p.L315L|PKD2L2_ENST00000508883.1_Silent_p.L349L	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	349						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GACAGCTGTTGAAAAGTACTG	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	92	97			NA	NA	5		NA											NA				137243502		1788	4068	5856	SO:0001819	synonymous_variant			AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795	27039	27039		Voltage-gated ion channels / Transient receptor potential cation channels	9012	protein-coding gene	gene with protein product		604669			NA	10602361	Standard	NM_014386	NM_014386	NA	Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508638.1:c.1047G>A	5.37:g.137243502G>A		NA	A6NK98|Q9UNJ0	37	CCDS58971.1																																																																																			PKD2L2-006	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372526.2		+	ENST00000508638.1	Silent	SNP	5 : 137243502 - 137243502 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	134	27
FARP1	10160	broad.mit.edu	37	13	99047599	99047599	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:99047599C>A	ENST00000376586.2	+	13	1619	c.1283C>A	c.(1282-1284)cCt>cAt	p.P428H	FARP1_ENST00000319562.6_Missense_Mutation_p.P428H|FARP1_ENST00000595437.1_Missense_Mutation_p.P428H			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	428					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CACCCGAGCCCTGCGCCGAGG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	22	20			NA	NA	13		NA											NA				99047599		2193	4281	6474	SO:0001583	missense			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767	10160	10160		Rho guanine nucleotide exchange factors, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Pleckstrin homology (PH) domain containing	3591	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 75	602654			NA	9425278	Standard	NM_005766	NM_005766	NA	Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000376586.2:c.1283C>A	13.37:g.99047599C>A	ENSP00000365771:p.Pro428His	NA	Q6IQ29	37		.	.	.	.	.	.	.	.	.	.	C	18.73	3.685884	0.68157	.	.	ENSG00000152767	ENST00000376586;ENST00000376584;ENST00000319562	T;T	0.79247	-1.25;-1.07	4.59	4.59	0.56863	.	0.340804	0.30742	N	0.008966	T	0.79257	0.4415	M	0.62723	1.935	0.58432	D	0.999997	P;P	0.43287	0.8;0.802	B;B	0.44224	0.436;0.444	T	0.82307	-0.0522	10	0.56958	D	0.05	.	17.4097	0.87482	0.0:1.0:0.0:0.0	.	428;428	Q9Y4F1;C9JME2	FARP1_HUMAN;.	H	428;133;428	ENSP00000365771:P428H;ENSP00000322926:P428H	ENSP00000322926:P428H	P	+	2	0	FARP1	97845600	0.971000	0.33674	0.186000	0.23195	0.007000	0.05969	2.259000	0.43259	2.095000	0.63458	0.462000	0.41574	CCT	FARP1-201	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000462315.1		+	ENST00000376586.2	Missense_Mutation	SNP	13 : 99047599 - 99047599 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	34
ABCA12	26154	broad.mit.edu	37	2	215928871	215928871	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215928871C>A	ENST00000272895.7	-	3	454	c.235G>T	c.(235-237)Gac>Tac	p.D79Y		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	79					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CATTTAGAGTCTGTGTCACAG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(66;664 1488 5121 34295)							NA				0													194	182	186			NA	NA	2		NA											NA				215928871		2203	4300	6503	SO:0001583	missense			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452	26154	26154		ATP binding cassette transporters / subfamily A	14637	protein-coding gene	gene with protein product		607800	ichthyosis congenita II, lamellar ichthyosis B	ICR2B	NA	11435397, 12915478, 8845852, 10094194	Standard	NM_173076	NM_015657	NA	Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.235G>T	2.37:g.215928871C>A	ENSP00000272895:p.Asp79Tyr	NA	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816495	0.70912	.	.	ENSG00000144452	ENST00000272895	D	0.98512	-4.97	5.65	4.77	0.60923	.	0.596143	0.16633	N	0.205982	D	0.98277	0.9429	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.98008	1.0364	10	0.66056	D	0.02	.	11.6926	0.51525	0.0:0.9166:0.0:0.0834	.	79	Q86UK0	ABCAC_HUMAN	Y	79	ENSP00000272895:D79Y	ENSP00000272895:D79Y	D	-	1	0	ABCA12	215637116	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.681000	0.61663	1.372000	0.46190	0.655000	0.94253	GAC	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337111.1		-	ENST00000272895.7	Missense_Mutation	SNP	2 : 215928871 - 215928871 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	648	96
DSCAM	1826	broad.mit.edu	37	21	41384987	41384987	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41384987A>G	ENST00000400454.1	-	33	6490	c.6013T>C	c.(6013-6015)Tac>Cac	p.Y2005H		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	2005				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GATTTTGCGTAAGGATTGTTT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(134;970 1778 1785 21664 32388)							NA				0													69	67	68			NA	NA	21		NA											NA				41384987		1890	4126	6016	SO:0001583	missense			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587	1826	1826		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	3039	protein-coding gene	gene with protein product		602523			NA	9426258	Standard	NM_001389	NM_001271534	NA	Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.6013T>C	21.37:g.41384987A>G	ENSP00000383303:p.Tyr2005His	NA	O60468	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	.	17.07	3.295528	0.60086	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.71222	-0.41;-0.55	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.82066	0.4956	M	0.63843	1.955	0.45097	D	0.998111	D	0.71674	0.998	D	0.78314	0.991	D	0.84193	0.0446	10	0.87932	D	0	.	15.4267	0.75059	1.0:0.0:0.0:0.0	.	2005	O60469	DSCAM_HUMAN	H	2005;1739	ENSP00000383303:Y2005H;ENSP00000385342:Y1739H	ENSP00000383303:Y2005H	Y	-	1	0	DSCAM	40306857	1.000000	0.71417	0.997000	0.53966	0.655000	0.38815	8.686000	0.91250	2.041000	0.60428	0.455000	0.32223	TAC	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195029.1		-	ENST00000400454.1	Missense_Mutation	SNP	21 : 41384987 - 41384987 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	251	12
NUP188	23511	broad.mit.edu	37	9	131761996	131761996	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131761996G>A	ENST00000372577.2	+	34	3776	c.3755G>A	c.(3754-3756)aGt>aAt	p.S1252N		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1252					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ACCCGCCACAGTCTGGCATTA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	65	68			NA	NA	9		NA											NA				131761996		2203	4300	6503	SO:0001583	missense			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319	23511	23511			17859	protein-coding gene	gene with protein product		615587	KIAA0169	KIAA0169	NA	11029043	Standard		NM_015354	NA	Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.3755G>A	9.37:g.131761996G>A	ENSP00000361658:p.Ser1252Asn	NA	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	37	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	G	9.867	1.197801	0.22037	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.32753	1.44	5.28	5.28	0.74379	.	0.249110	0.46145	D	0.000301	T	0.26955	0.0660	L	0.60455	1.87	0.34919	D	0.748258	P;B	0.34462	0.454;0.244	B;B	0.29663	0.105;0.037	T	0.34229	-0.9837	10	0.23302	T	0.38	-29.9441	11.3822	0.49763	0.0831:0.0:0.9169:0.0	.	585;1252	E9PET9;Q5SRE5	.;NU188_HUMAN	N	1141;1252	ENSP00000361658:S1252N	ENSP00000349125:S1141N	S	+	2	0	NUP188	130801817	1.000000	0.71417	0.977000	0.42913	0.531000	0.34715	2.879000	0.48522	2.473000	0.83533	0.563000	0.77884	AGT	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054529.2		+	ENST00000372577.2	Missense_Mutation	SNP	9 : 131761996 - 131761996 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	48
EML5	161436	broad.mit.edu	37	14	89083140	89083140	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89083140C>T	ENST00000554922.1	-	42	5974	c.5726G>A	c.(5725-5727)gGa>gAa	p.G1909E	EML5_ENST00000380664.5_Missense_Mutation_p.G1901E|EML5_ENST00000352093.5_Missense_Mutation_p.G1863E	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1901						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AAGACTGATTCCTGAATGAGA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	84	86			NA	NA	14		NA											NA				89083140		1931	4136	6067	SO:0001583	missense			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521	161436	161436		WD repeat domain containing	18197	protein-coding gene	gene with protein product					NA		Standard		NM_183387	NA	Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000554922.1:c.5726G>A	14.37:g.89083140C>T	ENSP00000451998:p.Gly1909Glu	NA	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	37	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969264	0.92855	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.22134	1.97;1.97;1.97	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.48647	-0.9017	10	0.48119	T	0.1	-16.733	19.2291	0.93831	0.0:1.0:0.0:0.0	.	1901	Q05BV3	EMAL5_HUMAN	E	1909;1863;1901	ENSP00000451998:G1909E;ENSP00000298315:G1863E;ENSP00000370039:G1901E	ENSP00000298315:G1863E	G	-	2	0	EML5	88152893	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.445000	0.80570	2.614000	0.88457	0.655000	0.94253	GGA	EML5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410488.2		-	ENST00000554922.1	Missense_Mutation	SNP	14 : 89083140 - 89083140 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	248	50
COL4A2	1284	broad.mit.edu	37	13	111111123	111111123	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111111123G>A	ENST00000360467.5	+	22	1744	c.1438G>A	c.(1438-1440)Gct>Act	p.A480T	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	480	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGCAGGTGACGCTGGGGAATG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	121	119			NA	NA	13		NA											NA				111111123		2091	4226	6317	SO:0001583	missense			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871	1284	1284		Collagens	2203	protein-coding gene	gene with protein product	canstatin, collagen type IV alpha 2	120090			NA	2439508, 3025878	Standard	NM_001846	NM_001846	NA	Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1438G>A	13.37:g.111111123G>A	ENSP00000353654:p.Ala480Thr	NA	Q14052|Q548C3|Q5VZA9|Q66K23	37	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	7.161	0.585683	0.13749	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.93604	-3.25	5.37	1.36	0.22044	.	0.568329	0.15913	N	0.238523	T	0.80019	0.4547	N	0.17474	0.49	0.80722	D	1	P	0.44429	0.835	B	0.35413	0.202	T	0.73228	-0.4049	10	0.10902	T	0.67	.	2.5355	0.04713	0.0888:0.271:0.2813:0.3589	.	480	P08572	CO4A2_HUMAN	T	480	ENSP00000353654:A480T	ENSP00000257309:A480T	A	+	1	0	COL4A2	109909124	0.000000	0.05858	0.006000	0.13384	0.094000	0.18550	-0.225000	0.09151	0.203000	0.20529	-0.182000	0.12963	GCT	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045761.2		+	ENST00000360467.5	Missense_Mutation	SNP	13 : 111111123 - 111111123 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	872	37
SLC7A8	23428	broad.mit.edu	37	14	23609809	23609809	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23609809T>G	ENST00000469263.1	-	5	1385	c.659A>C	c.(658-660)aAg>aCg	p.K220T	SLC7A8_ENST00000422941.2_Intron|SLC7A8_ENST00000529705.2_Missense_Mutation_p.K115T|SLC7A8_ENST00000532568.1_5'UTR|SLC7A8_ENST00000316902.7_Missense_Mutation_p.K220T|SLC7A8_ENST00000453702.1_Missense_Mutation_p.K17T			Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	220					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	AAATGCATTCTTTGGCTCCAG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	121	121			NA	NA	14		NA											NA				23609809		2203	4300	6503	SO:0001583	missense			Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068	23428	23428		Solute carriers	11066	protein-coding gene	gene with protein product		604235			NA	10080183, 10391915	Standard		NM_001267036	NA	Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000469263.1:c.659A>C	14.37:g.23609809T>G	ENSP00000435114:p.Lys220Thr	NA	B2R8Q4|D3DS46|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	37		.	.	.	.	.	.	.	.	.	.	T	13.65	2.301603	0.40694	.	.	ENSG00000092068	ENST00000316902;ENST00000334354;ENST00000469263;ENST00000453702;ENST00000529705;ENST00000206514	D;D;D;D	0.89270	-2.49;-2.49;-2.22;-2.49	4.81	4.81	0.61882	Amino acid permease domain (1);	0.116516	0.64402	D	0.000020	T	0.76227	0.3958	N	0.04090	-0.28	0.80722	D	1	B;B;B	0.14012	0.009;0.001;0.001	B;B;B	0.18263	0.021;0.006;0.005	T	0.71220	-0.4657	10	0.22706	T	0.39	.	13.6703	0.62420	0.0:0.0:0.0:1.0	.	115;220;220	B4DKT4;E9PLV9;Q9UHI5	.;.;LAT2_HUMAN	T	220;17;220;17;115;17	ENSP00000320378:K220T;ENSP00000435114:K220T;ENSP00000391577:K17T;ENSP00000434345:K115T	ENSP00000206514:K17T	K	-	2	0	SLC7A8	22679649	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.870000	0.39529	1.946000	0.56461	0.460000	0.39030	AAG	SLC7A8-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000071720.3		-	ENST00000469263.1	Missense_Mutation	SNP	14 : 23609809 - 23609809 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	696	145
VDAC1	7416	broad.mit.edu	37	5	133326749	133326749	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133326749T>C	ENST00000265333.3	-	4	458	c.214A>G	c.(214-216)Aca>Gca	p.T72A	VDAC1_ENST00000395047.2_Missense_Mutation_p.T72A|VDAC1_ENST00000466080.1_5'UTR|VDAC1_ENST00000395044.3_Missense_Mutation_p.T72A	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	72					apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	CATTTCTCTGTAAACGTCAGG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(127;1776 1806 35523 41489 48154)							NA				0													212	191	198			NA	NA	5		NA											NA				133326749		2203	4300	6503	SO:0001583	missense				CCDS4168.1	5q31	2011-11-15			ENSG00000213585	ENSG00000213585	7416	7416		Voltage-dependent anion channels	12669	protein-coding gene	gene with protein product		604492			NA	7517385	Standard		NM_003374	NA	Approved	MGC111064, PORIN	uc003kyr.2	P21796	OTTHUMG00000129118	ENST00000265333.3:c.214A>G	5.37:g.133326749T>C	ENSP00000265333:p.Thr72Ala	NA	B3KVK4|D3DQ93|Q5FVE7|Q9UIQ5|Q9UPL0	37	CCDS4168.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.303855	0.81136	.	.	ENSG00000213585	ENST00000265333;ENST00000395044;ENST00000395047;ENST00000425992	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.91	5.91	0.95273	.	0.044704	0.85682	D	0.000000	T	0.65133	0.2662	M	0.89715	3.055	0.80722	D	1	B	0.23058	0.079	B	0.37015	0.239	T	0.67760	-0.5587	10	0.72032	D	0.01	.	16.3483	0.83171	0.0:0.0:0.0:1.0	.	72	P21796	VDAC1_HUMAN	A	72	ENSP00000265333:T72A;ENSP00000378484:T72A;ENSP00000378487:T72A;ENSP00000390129:T72A	ENSP00000265333:T72A	T	-	1	0	VDAC1	133354648	1.000000	0.71417	0.977000	0.42913	0.897000	0.52465	7.970000	0.88000	2.254000	0.74563	0.533000	0.62120	ACA	VDAC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000259208.1		-	ENST00000265333.3	Missense_Mutation	SNP	5 : 133326749 - 133326749 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	981	192
CNTNAP2	26047	broad.mit.edu	37	7	146471401	146471401	+	Missense_Mutation	SNP	G	G	A	rs137924687	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:146471401G>A	ENST00000361727.3	+	2	652	c.136G>A	c.(136-138)Gtg>Atg	p.V46M		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	46	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACTCCCCCATGTGGCTTTCAG	0.438		NA								HNSCC(39;0.1)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/VAL	9,4397	15.5+/-35.6	0,9,2194	74	72	72		136	1.7	0	7	dbSNP_134	72	0,8600		0,0,4300	yes	missense	CNTNAP2	NM_014141.5	21	0,9,6494	AA,AG,GG	NA	0.0,0.2043,0.0692	benign	46/1332	146471401	9,12997	2203	4300	6503	SO:0001583	missense			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469	26047	26047			13830	protein-coding gene	gene with protein product		604569			NA	10624965, 10048485	Standard		NM_014141	NA	Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.136G>A	7.37:g.146471401G>A	ENSP00000354778:p.Val46Met	NA	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	37	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	7.220	0.597235	0.13875	0.002043	0.0	ENSG00000174469	ENST00000361727	D	0.97186	-4.28	5.74	1.69	0.24217	Coagulation factor 5/8 C-terminal type domain (2);Galactose-binding domain-like (1);	1.629630	0.04097	N	0.312269	D	0.91962	0.7454	N	0.16368	0.405	0.09310	N	1	B	0.17852	0.024	B	0.13407	0.009	T	0.82900	-0.0228	10	0.36615	T	0.2	.	2.1205	0.03724	0.1681:0.2845:0.401:0.1463	.	46	Q9UHC6	CNTP2_HUMAN	M	46	ENSP00000354778:V46M	ENSP00000354778:V46M	V	+	1	0	CNTNAP2	146102334	0.000000	0.05858	0.001000	0.08648	0.376000	0.30014	0.138000	0.16016	0.029000	0.15352	0.650000	0.86243	GTG	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327668.1		+	ENST00000361727.3	Missense_Mutation	SNP	7 : 146471401 - 146471401 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	208	26
MAP3K9	4293	broad.mit.edu	37	14	71209278	71209278	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71209278G>A	ENST00000553414.1	-	5	754	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	MAP3K9_ENST00000381250.4_Missense_Mutation_p.R453W|MAP3K9_ENST00000554752.2_Missense_Mutation_p.R453W|MAP3K9_ENST00000554146.1_Missense_Mutation_p.R190W|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R453W			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	453	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		AGTGCAGCCCGCGTCAGCTCC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(114;411 1587 13539 28235 50070)							NA				0													38	36	36			NA	NA	14		NA											NA				71209278		2203	4300	6503	SO:0001583	missense			AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432	4293	4293		Mitogen-activated protein kinase cascade / Kinase kinase kinases	6861	protein-coding gene	gene with protein product		600136		MLK1	NA		Standard		NM_001284231	NA	Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000553414.1:c.439C>T	14.37:g.71209278G>A	ENSP00000451038:p.Arg147Trp	NA	A3KN85|Q0D2G7|Q6EH31|Q9H2N5	37		.	.	.	.	.	.	.	.	.	.	G	18.72	3.683396	0.68157	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	6.06	5.12	0.69794	Protein kinase-like domain (1);	0.115517	0.64402	D	0.000011	D	0.90417	0.7000	M	0.71871	2.18	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.999;0.998	D	0.90899	0.4767	10	0.87932	D	0	.	16.8654	0.86028	0.0:0.128:0.872:0.0	.	190;453;453;147	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	W	453;453;147;453;190;181	ENSP00000451612:R453W;ENSP00000451038:R147W;ENSP00000370649:R453W;ENSP00000451921:R190W	ENSP00000005198:R453W	R	-	1	2	MAP3K9	70279031	1.000000	0.71417	0.972000	0.41901	0.028000	0.11728	6.623000	0.74238	2.882000	0.98803	0.655000	0.94253	CGG	MAP3K9-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000412552.1		-	ENST00000553414.1	Missense_Mutation	SNP	14 : 71209278 - 71209278 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	259	46
GAS2	2620	broad.mit.edu	37	11	22777449	22777449	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22777449C>T	ENST00000454584.2	+	7	978	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	GAS2_ENST00000433790.1_Missense_Mutation_p.R225W|GAS2_ENST00000278187.3_Missense_Mutation_p.R225W	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	225	GAR.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						CTGTGTGGAGCGGCTCTCCCA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	80	80			NA	NA	11		NA											NA				22777449		2203	4299	6502	SO:0001583	missense			BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935	2620	2620			4167	protein-coding gene	gene with protein product		602835			NA	9521882	Standard	NM_177553	NM_005256	NA	Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.673C>T	11.37:g.22777449C>T	ENSP00000401145:p.Arg225Trp	NA	B2R9C8|D3DQZ0|Q6ICV8	37	CCDS7858.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073711	0.76415	.	.	ENSG00000148935	ENST00000454584;ENST00000278187;ENST00000433790	T;T;T	0.51071	0.72;0.72;0.72	5.61	1.2	0.21068	Growth-arrest-specific protein 2 domain (5);	0.000000	0.85682	D	0.000000	T	0.65428	0.2690	M	0.70595	2.14	0.53688	D	0.999979	D	0.89917	1.0	D	0.75020	0.985	T	0.68401	-0.5418	10	0.87932	D	0	-13.4615	15.0604	0.71947	0.6008:0.3992:0.0:0.0	.	225	O43903	GAS2_HUMAN	W	225	ENSP00000401145:R225W;ENSP00000278187:R225W;ENSP00000396708:R225W	ENSP00000278187:R225W	R	+	1	2	GAS2	22734025	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	1.064000	0.30579	-0.059000	0.13154	0.655000	0.94253	CGG	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387717.1		+	ENST00000454584.2	Missense_Mutation	SNP	11 : 22777449 - 22777449 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	50
FAM179B	23116	broad.mit.edu	37	14	45431712	45431712	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45431712G>A	ENST00000361462.2	+	1	271	c.88G>A	c.(88-90)Gcc>Acc	p.A30T	FAM179B_ENST00000361577.3_Missense_Mutation_p.A30T|FAM179B_ENST00000382233.2_Missense_Mutation_p.A30T			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	30							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TCGTCCTTCCGCCCCAGAGAC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	30	29			NA	NA	14		NA											NA				45431712		2203	4300	6503	SO:0001583	missense			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718	23116	23116			19959	protein-coding gene	gene with protein product			KIAA0423	KIAA0423	NA		Standard	XM_113781	XM_005267451	NA	Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361462.2:c.88G>A	14.37:g.45431712G>A	ENSP00000354917:p.Ala30Thr	NA	Q68D66|Q6PG27	37		.	.	.	.	.	.	.	.	.	.	G	9.195	1.027082	0.19512	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.36520	2.47;2.47;1.25	4.88	0.561	0.17285	.	0.305959	0.23642	N	0.046008	T	0.16300	0.0392	N	0.12182	0.205	0.25685	N	0.98576	B;B;B;B	0.15930	0.015;0.006;0.006;0.006	B;B;B;B	0.08055	0.003;0.003;0.003;0.003	T	0.15694	-1.0428	10	0.27082	T	0.32	0.0	6.2572	0.20879	0.4888:0.0:0.5112:0.0	.	30;30;30;30	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	T	30	ENSP00000355045:A30T;ENSP00000354917:A30T;ENSP00000371668:A30T	ENSP00000354917:A30T	A	+	1	0	FAM179B	44501462	0.955000	0.32602	0.999000	0.59377	0.647000	0.38526	0.783000	0.26802	0.220000	0.20860	0.655000	0.94253	GCC	FAM179B-002	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000276792.1		+	ENST00000361462.2	Missense_Mutation	SNP	14 : 45431712 - 45431712 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	224	58
SPATA31A2	642265	broad.mit.edu	37	9	39887020	39887020	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:39887020C>T	ENST00000456183.2	+	3	291	c.262C>T	c.(262-264)Cgg>Tgg	p.R88W		NM_001040065.1	NP_001035154.1			SPATA31 subfamily A, member 2	NA								p.R88R(1)			NA						TAGAGAGTGCCGGAGAGGCCT	0.602		NA												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)											82	86	84			NA	NA	9		NA											NA				39887020		1837	4048	5885	SO:0001583	missense					9p13.1	2012-10-15	2012-10-12	2012-10-12	ENSG00000204848		642265	NA			32002	protein-coding gene	gene with protein product			family with sequence similarity 75, member A2	FAM75A2	NA	20850414	Standard	NM_001040065		NA	Approved	OTTHUMG00000013563	uc004abm.3	Q5RGS2	OTTHUMG00000013563	ENST00000456183.2:c.262C>T	9.37:g.39887020C>T	ENSP00000406957:p.Arg88Trp	NA		37	CCDS43809.1	.	.	.	.	.	.	.	.	.	.	C	7.230	0.599059	0.13939	.	.	ENSG00000204848	ENST00000456183	T	0.04603	3.59	1.51	1.51	0.23008	.	0.630203	0.12182	N	0.492007	T	0.02929	0.0087	N	0.14661	0.345	0.09310	N	1	B	0.22276	0.067	B	0.11329	0.006	T	0.42447	-0.9451	10	0.37606	T	0.19	.	6.4898	0.22109	0.0:1.0:0.0:0.0	.	88	Q5RGS2	F75A2_HUMAN	W	88	ENSP00000406957:R88W	ENSP00000406957:R88W	R	+	1	2	FAM75A2	39877020	0.001000	0.12720	0.039000	0.18376	0.008000	0.06430	0.141000	0.16076	1.172000	0.42781	0.184000	0.17185	CGG	SPATA31A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000037739.1		+	ENST00000456183.2	Missense_Mutation	SNP	9 : 39887020 - 39887020 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	983	132
GRIN2B	2904	broad.mit.edu	37	12	13906396	13906396	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13906396G>A	ENST00000609686.1	-	3	1074	c.865C>T	c.(865-867)Ctc>Ttc	p.L289F		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	NA					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTGGCGGGGAGGCCATAGTCC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	85	88			NA	NA	12		NA											NA				13906396		2203	4300	6503	SO:0001583	missense				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079		2904	2904		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4586	protein-coding gene	gene with protein product		138252		NMDAR2B	NA	1350383	Standard		NM_000834	NA	Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.865C>T	12.37:g.13906396G>A	ENSP00000477455:p.Leu289Phe	NA	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	37	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846065	0.91277	.	.	ENSG00000150086	ENST00000279593	T	0.10763	2.84	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.23572	0.0570	M	0.85299	2.745	0.80722	D	1	P	0.34780	0.468	B	0.35278	0.199	T	0.02539	-1.1144	10	0.56958	D	0.05	.	20.1865	0.98220	0.0:0.0:1.0:0.0	.	289	Q13224	NMDE2_HUMAN	F	289	ENSP00000279593:L289F	ENSP00000279593:L289F	L	-	1	0	GRIN2B	13797663	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.461000	0.73522	2.775000	0.95449	0.655000	0.94253	CTC	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268014.2		-	ENST00000609686.1	Missense_Mutation	SNP	12 : 13906396 - 13906396 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	285	38
ANO3	63982	broad.mit.edu	37	11	26463513	26463513	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26463513C>T	ENST00000256737.3	+	2	947	c.95C>T	c.(94-96)cCg>cTg	p.P32L	ANO3_ENST00000537978.1_Missense_Mutation_p.P16L|ANO3_ENST00000525139.1_Missense_Mutation_p.P16L|ANO3_ENST00000531646.1_Missense_Mutation_p.P32L	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	32						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TCGTTAAAACCGTCTCGGAGA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	134	133			NA	NA	11		NA											NA				26463513		2203	4300	6503	SO:0001583	missense			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343	63982	63982		Ion channels / Chloride channels : Calcium activated : Anoctamins	14004	protein-coding gene	gene with protein product	transmembrane protein 16C (eight membrane-spanning domains)	610110	chromosome 11 open reading frame 25, transmembrane protein 16C	C11orf25, TMEM16C	NA	12739008, 15067359, 23200863, 24692353	Standard	NM_031418	NM_031418	NA	Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.95C>T	11.37:g.26463513C>T	ENSP00000256737:p.Pro32Leu	NA		37	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439921	0.63067	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000531646	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.49012	0.1532	N	0.19112	0.55	0.58432	D	0.999996	D	0.52996	0.957	B	0.41440	0.357	T	0.53865	-0.8378	10	0.49607	T	0.09	.	15.5776	0.76404	0.0:1.0:0.0:0.0	.	32	Q9BYT9	ANO3_HUMAN	L	16;16;32;32	ENSP00000440737:P16L;ENSP00000432576:P16L;ENSP00000256737:P32L;ENSP00000435275:P32L	ENSP00000256737:P32L	P	+	2	0	ANO3	26420089	0.995000	0.38212	0.981000	0.43875	0.633000	0.38033	4.172000	0.58243	2.831000	0.97527	0.650000	0.86243	CCG	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387806.1		+	ENST00000256737.3	Missense_Mutation	SNP	11 : 26463513 - 26463513 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	958	163
SSTR4	6754	broad.mit.edu	37	20	23016650	23016650	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23016650T>A	ENST00000255008.3	+	1	594	c.530T>A	c.(529-531)gTc>gAc	p.V177D	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	177					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCCCTGTTGGTCACTCTCCCC	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(15;850 1104 16640)							NA				0													48	54	52			NA	NA	20		NA											NA				23016650		2195	4284	6479	SO:0001583	missense				CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671	6754	6754		GPCR / Class A : Somatostatin receptors	11333	protein-coding gene	gene with protein product		182454			NA	8483934	Standard		NM_001052	NA	Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.530T>A	20.37:g.23016650T>A	ENSP00000255008:p.Val177Asp	NA	Q17RM1|Q17RM3|Q9UIY1	37	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	T	16.41	3.114789	0.56505	.	.	ENSG00000132671	ENST00000255008	T	0.74421	-0.84	3.87	3.87	0.44632	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	U	0.000039	D	0.87549	0.6205	M	0.91818	3.245	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.89683	0.3892	10	0.87932	D	0	.	11.6214	0.51119	0.0:0.0:0.0:1.0	.	177	P31391	SSR4_HUMAN	D	177	ENSP00000255008:V177D	ENSP00000255008:V177D	V	+	2	0	SSTR4	22964650	1.000000	0.71417	1.000000	0.80357	0.207000	0.24258	4.361000	0.59461	1.603000	0.50134	0.533000	0.62120	GTC	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078308.1		+	ENST00000255008.3	Missense_Mutation	SNP	20 : 23016650 - 23016650 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	653	123
C1orf110	339512	broad.mit.edu	37	1	162824821	162824821	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162824821C>T	ENST00000367910.1	-	4	763	c.643G>A	c.(643-645)Gct>Act	p.A215T	C1orf110_ENST00000367911.2_Intron|C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367912.2_Intron	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	215										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						GGCTTTAGAGCAACATCTTTT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													189	173	178			NA	NA	1		NA											NA				162824821		1953	4181	6134	SO:0001583	missense			BC040018	CCDS44269.1	1q23.3	2012-06-26			ENSG00000185860	ENSG00000185860	339512	339512			28736	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_178550	NM_178550	NA	Approved	MGC48998	uc001gck.2	Q86UF4	OTTHUMG00000034421	ENST00000367910.1:c.643G>A	1.37:g.162824821C>T	ENSP00000356886:p.Ala215Thr	NA	Q5JSG1|Q6ZW57	37	CCDS44269.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.435252	0.25813	.	.	ENSG00000185860	ENST00000367910	.	.	.	4.41	-0.526	0.11913	.	1.624330	0.03204	N	0.175223	T	0.10895	0.0266	N	0.19112	0.55	0.22888	N	0.998608	B	0.10296	0.003	B	0.10450	0.005	T	0.17228	-1.0376	8	0.30854	T	0.27	-0.394	7.2838	0.26326	0.0:0.5225:0.0:0.4775	.	215	Q86UF4	CA110_HUMAN	T	215	.	ENSP00000356886:A215T	A	-	1	0	C1orf110	161091445	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.340000	0.02650	-0.025000	0.13918	-0.302000	0.09304	GCT	C1orf110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083211.2		-	ENST00000367910.1	Missense_Mutation	SNP	1 : 162824821 - 162824821 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	615	85
ORC5	5001	broad.mit.edu	37	7	103828724	103828724	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103828724C>T	ENST00000297431.4	-	6	801	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	ORC5_ENST00000485726.1_5'UTR|ORC5_ENST00000447452.2_Missense_Mutation_p.R220Q|ORC5_ENST00000545943.1_Missense_Mutation_p.R88Q	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5	220					cell cycle checkpoint|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	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						TTTCAAATCTCGACAAACAGT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	91	91			NA	NA	7		NA											NA				103828724		2203	4300	6503	SO:0001583	missense				CCDS5734.1, CCDS47681.1	7q22.1	2014-06-13	2010-10-12	2010-10-12	ENSG00000164815	ENSG00000164815	5001	5001			8491	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 117	602331	origin recognition complex, subunit 5 (yeast homolog)-like, origin recognition complex, subunit 5-like (yeast), origin recognition complex, subunit 5 homolog (yeast)	ORC5L	NA	9417919, 9829972	Standard	NM_002553	NM_002553	NA	Approved	Orc5p, ORC5T, PPP1R117	uc003vcb.3	O43913	OTTHUMG00000157275	ENST00000297431.4:c.659G>A	7.37:g.103828724C>T	ENSP00000297431:p.Arg220Gln	NA	O60590	37	CCDS5734.1	.	.	.	.	.	.	.	.	.	.	C	36	5.627341	0.96671	.	.	ENSG00000164815	ENST00000297431;ENST00000545943;ENST00000447452	T;T;T	0.62639	1.6;0.6;0.01	5.43	5.43	0.79202	.	0.051598	0.64402	D	0.000001	T	0.81098	0.4752	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.79108	0.992;0.99;0.806	T	0.82768	-0.0294	10	0.59425	D	0.04	.	17.7801	0.88522	0.0:1.0:0.0:0.0	.	220;220;220	A4D0P7;O43913-2;O43913	.;.;ORC5_HUMAN	Q	220;88;220	ENSP00000297431:R220Q;ENSP00000438018:R88Q;ENSP00000395747:R220Q	ENSP00000297431:R220Q	R	-	2	0	ORC5	103615960	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.060000	0.76692	2.700000	0.92200	0.655000	0.94253	CGA	ORC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348286.1		-	ENST00000297431.4	Missense_Mutation	SNP	7 : 103828724 - 103828724 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	343	58
UBE2O	63893	broad.mit.edu	37	17	74392554	74392554	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74392554C>T	ENST00000319380.7	-	14	2528	c.2464G>A	c.(2464-2466)Gag>Aag	p.E822K		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	822							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TTGAGGCTCTCCAGGATCTTG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	124	121			NA	NA	17		NA											NA				74392554		2203	4300	6503	SO:0001583	missense			AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931	63893	63893			29554	protein-coding gene	gene with protein product					NA	11311559, 11214970	Standard	NM_022066	NM_022066	NA	Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.2464G>A	17.37:g.74392554C>T	ENSP00000323687:p.Glu822Lys	NA	A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	37	CCDS32742.1	.	.	.	.	.	.	.	.	.	.	C	30	5.055298	0.93793	.	.	ENSG00000175931	ENST00000319380	T	0.81247	-1.47	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	D	0.82949	0.5148	L	0.27053	0.805	0.58432	D	0.999997	D	0.63880	0.993	D	0.68192	0.956	T	0.82697	-0.0329	10	0.34782	T	0.22	.	17.5355	0.87829	0.0:1.0:0.0:0.0	.	822	Q9C0C9	UBE2O_HUMAN	K	822	ENSP00000323687:E822K	ENSP00000323687:E822K	E	-	1	0	UBE2O	71904149	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	5.790000	0.69038	2.206000	0.71126	0.462000	0.41574	GAG	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450123.1		-	ENST00000319380.7	Missense_Mutation	SNP	17 : 74392554 - 74392554 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1323	46
OLFML2A	169611	broad.mit.edu	37	9	127572492	127572492	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127572492C>A	ENST00000373580.3	+	8	1760	c.1760C>A	c.(1759-1761)gCc>gAc	p.A587D	OLFML2A_ENST00000288815.5_Missense_Mutation_p.A373D	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	587	Olfactomedin-like.									endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						ATCCTGTATGCCGTGGACACG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	96	101			NA	NA	9		NA											NA				127572492		2203	4300	6503	SO:0001583	missense			AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585	169611	169611			27270	protein-coding gene	gene with protein product		615899			NA	12477932	Standard	NM_182487	NM_001282715	NA	Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.1760C>A	9.37:g.127572492C>A	ENSP00000362682:p.Ala587Asp	NA	Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	37	CCDS6857.2	.	.	.	.	.	.	.	.	.	.	C	31	5.059241	0.93846	.	.	ENSG00000185585	ENST00000342100;ENST00000373580;ENST00000288815	T;D	0.90563	1.27;-2.69	5.52	5.52	0.82312	Olfactomedin-like (3);	0.057190	0.64402	D	0.000001	D	0.96172	0.8752	M	0.91510	3.215	0.80722	D	1	D;D	0.56968	0.974;0.978	D;D	0.65233	0.915;0.933	D	0.96831	0.9611	10	0.87932	D	0	.	18.0092	0.89218	0.0:1.0:0.0:0.0	.	373;587	Q68BL7-3;Q68BL7	.;OLM2A_HUMAN	D	279;587;373	ENSP00000362682:A587D;ENSP00000288815:A373D	ENSP00000288815:A373D	A	+	2	0	OLFML2A	126612313	1.000000	0.71417	0.955000	0.39395	0.823000	0.46562	7.818000	0.86416	2.586000	0.87340	0.655000	0.94253	GCC	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054046.2		+	ENST00000373580.3	Missense_Mutation	SNP	9 : 127572492 - 127572492 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	76
AHNAK2	113146	broad.mit.edu	37	14	105411530	105411530	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105411530G>T	ENST00000557457.1	-	2	24				AHNAK2_ENST00000333244.5_Missense_Mutation_p.L3420I			Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	NA						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGACTTTTAGGTCCAGCTTG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	171	166			NA	NA	14		NA											NA				105411530		1892	4131	6023	SO:0001627	intron_variant			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567	113146	113146			20125	protein-coding gene	gene with protein product		608570	chromosome 14 open reading frame 78	C14orf78	NA	15007166	Standard	NM_138420	NM_138420	NA	Approved		uc010axc.1	Q8IVF2		ENST00000557457.1:c.220-4215C>A	14.37:g.105411530G>T		NA	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	37		.	.	.	.	.	.	.	.	.	.	g	3.767	-0.048412	0.07407	.	.	ENSG00000185567	ENST00000333244	T	0.01902	4.57	4.31	-5.55	0.02536	.	.	.	.	.	T	0.01695	0.0054	L	0.28014	0.82	0.09310	N	1	B	0.33940	0.433	B	0.26310	0.068	T	0.34153	-0.9840	9	0.19147	T	0.46	.	15.6144	0.76753	0.0:0.7229:0.1753:0.1018	.	3420	Q8IVF2	AHNK2_HUMAN	I	3420	ENSP00000353114:L3420I	ENSP00000353114:L3420I	L	-	1	2	AHNAK2	104482575	.	.	0.040000	0.18447	0.017000	0.09413	.	.	-1.090000	0.03069	-0.479000	0.04858	CTA	AHNAK2-003	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000410299.1		-	ENST00000557457.1	Intron	SNP	14 : 105411530 - 105411530 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1410	303
LAMA1	284217	broad.mit.edu	37	18	6948455	6948455	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6948455T>C	ENST00000389658.3	-	60	8750	c.8657A>G	c.(8656-8658)tAc>tGc	p.Y2886C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2886					axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCCACTGCGTAGCACCTGTT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	108	127			NA	NA	18		NA											NA				6948455		2203	4300	6503	SO:0001583	missense			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680	284217	284217		Laminins	6481	protein-coding gene	gene with protein product		150320		LAMA	NA	2591971	Standard	NM_005559	NM_005559	NA	Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8657A>G	18.37:g.6948455T>C	ENSP00000374309:p.Tyr2886Cys	NA		37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	T	11.24	1.579569	0.28180	.	.	ENSG00000101680	ENST00000389658	T	0.18960	2.18	5.7	3.27	0.37495	Concanavalin A-like lectin/glucanase, subgroup (1);	0.234553	0.36665	N	0.002474	T	0.41305	0.1153	M	0.70595	2.14	0.32520	N	0.536383	D;D	0.76494	0.999;0.999	D;D	0.65684	0.935;0.937	T	0.55211	-0.8176	10	0.72032	D	0.01	.	11.188	0.48669	0.2451:0.0:0.0:0.7549	.	2886;216	P25391;B3KSD8	LAMA1_HUMAN;.	C	2886	ENSP00000374309:Y2886C	ENSP00000374309:Y2886C	Y	-	2	0	LAMA1	6938455	0.993000	0.37304	0.480000	0.27341	0.012000	0.07955	2.448000	0.44926	0.412000	0.25729	-0.444000	0.05651	TAC	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257369.1		-	ENST00000389658.3	Missense_Mutation	SNP	18 : 6948455 - 6948455 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	250	45
SRRM2	23524	broad.mit.edu	37	16	2817777	2817777	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2817777A>C	ENST00000574593.1	+	0	270				SRRM2_ENST00000301740.8_Missense_Mutation_p.Q2416H			Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	NA						Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCCCAAGCCAATCTAGGATGA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	67	71			NA	NA	16		NA											NA				2817777		2198	4300	6498	SO:0001624	3_prime_UTR_variant			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978	23524	23524			16639	protein-coding gene	gene with protein product		606032			NA	10668804, 11004489	Standard		NM_016333	NA	Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000574593.1:c.*267A>C	16.37:g.2817777A>C		NA	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	37		.	.	.	.	.	.	.	.	.	.	G	10.19	1.281883	0.23392	.	.	ENSG00000167978	ENST00000301740;ENST00000544933	T	0.79247	-1.25	5.91	-0.206	0.13193	.	0.095774	0.46442	N	0.000283	T	0.58148	0.2102	N	0.19112	0.55	0.26150	N	0.980158	B	0.06786	0.001	B	0.04013	0.001	T	0.50004	-0.8878	10	0.62326	D	0.03	-2.6915	6.4015	0.21640	0.3947:0.1244:0.4809:0.0	.	2416	Q9UQ35	SRRM2_HUMAN	H	2416;1668	ENSP00000301740:Q2416H	ENSP00000301740:Q2416H	Q	+	3	2	SRRM2	2757778	1.000000	0.71417	0.986000	0.45419	0.622000	0.37654	0.476000	0.22180	-0.086000	0.12550	-0.119000	0.15052	CAA	SRRM2-022	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000436432.1		+	ENST00000574593.1	3'UTR	SNP	16 : 2817777 - 2817777 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	67
PLXNA2	5362	broad.mit.edu	37	1	208266196	208266196	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208266196G>A	ENST00000367033.3	-	9	2789	c.2032C>T	c.(2032-2034)Cgc>Tgc	p.R678C		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	678					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CAGAGGTTGCGGTACTTGCAC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	86	91			NA	NA	1		NA											NA				208266196		2203	4300	6503	SO:0001583	missense			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356	5362	5362		Plexins	9100	protein-coding gene	gene with protein product	plexin 2, plexin-A2, semaphorin receptor OCT, transmembrane protein OCT	601054		PLXN2	NA	8570614	Standard	NM_025179	NM_025179	NA	Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.2032C>T	1.37:g.208266196G>A	ENSP00000356000:p.Arg678Cys	NA	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	37	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971966	0.92919	.	.	ENSG00000076356	ENST00000367033	T	0.18502	2.21	5.86	5.86	0.93980	.	0.047707	0.85682	D	0.000000	T	0.51227	0.1662	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.55528	-0.8127	10	0.72032	D	0.01	.	20.1772	0.98182	0.0:0.0:1.0:0.0	.	678	O75051	PLXA2_HUMAN	C	678	ENSP00000356000:R678C	ENSP00000356000:R678C	R	-	1	0	PLXNA2	206332819	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.249000	0.72427	2.778000	0.95560	0.655000	0.94253	CGC	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088932.6		-	ENST00000367033.3	Missense_Mutation	SNP	1 : 208266196 - 208266196 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	34
ARHGAP31	57514	broad.mit.edu	37	3	119084170	119084170	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119084170C>T	ENST00000264245.4	+	2	640	c.108C>T	c.(106-108)taC>taT	p.Y36Y		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	36	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TAGTTCCATACGTTTTGAAGA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(7;176 297 5394 51128 51241)							NA				0													83	75	78			NA	NA	3		NA											NA				119084170		1842	4105	5947	SO:0001819	synonymous_variant				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081	57514	57514		Rho GTPase activating proteins	29216	protein-coding gene	gene with protein product		610911			NA	9786927, 12819203, 16519628	Standard		NM_020754	NA	Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.108C>T	3.37:g.119084170C>T		NA	Q9ULL6	37	CCDS43135.1																																																																																			ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354942.2		+	ENST00000264245.4	Silent	SNP	3 : 119084170 - 119084170 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	306	55
MAST1	22983	broad.mit.edu	37	19	12976850	12976850	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12976850C>T	ENST00000251472.4	+	17	2002	c.1963C>T	c.(1963-1965)Ctg>Ttg	p.L655L		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	655	AGC-kinase C-terminal.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CTGGACAGGGCTGCTGAGGCA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	59	61			NA	NA	19		NA											NA				12976850		2203	4300	6503	SO:0001819	synonymous_variant			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613	22983	22983			19034	protein-coding gene	gene with protein product		612256			NA		Standard	NM_014975	NM_014975	NA	Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1963C>T	19.37:g.12976850C>T		NA	O00114|Q8N6X0	37	CCDS32921.1																																																																																			MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451733.2		+	ENST00000251472.4	Silent	SNP	19 : 12976850 - 12976850 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	267	10
CEP170B	283638	broad.mit.edu	37	14	105353570	105353570	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105353570C>T	ENST00000414716.3	+	12	3222	c.2994C>T	c.(2992-2994)acC>acT	p.T998T	CEP170B_ENST00000453495.1_Silent_p.T999T|CEP170B_ENST00000556508.1_Silent_p.T928T|CEP170B_ENST00000418279.1_Silent_p.T928T	NM_001112726.2	NP_001106197.1			centrosomal protein 170B	NA											NA						CGGGAGGCACCGCCCTGGTCA	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	20	18			NA	NA	14		NA											NA				105353570		2098	4214	6312	SO:0001819	synonymous_variant			AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814	283638	283638			20362	protein-coding gene	gene with protein product	Cep170-related		KIAA0284	KIAA0284	NA	23087211	Standard	NM_001112726	NM_015005	NA	Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.2994C>T	14.37:g.105353570C>T		NA		37	CCDS45175.1																																																																																			CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410289.2		+	ENST00000414716.3	Silent	SNP	14 : 105353570 - 105353570 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	209	37
RUVBL2	10856	broad.mit.edu	37	19	49513315	49513315	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49513315G>T	ENST00000595090.1	+	8	1119	c.655G>T	c.(655-657)Ggc>Tgc	p.G219C	RUVBL2_ENST00000601968.1_Missense_Mutation_p.G174C|RUVBL2_ENST00000413176.2_Missense_Mutation_p.G174C	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	219					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CGACGCTATGGGCTCCCAGGT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	34	33			NA	NA	19		NA											NA				49513315		1941	4115	6056	SO:0001583	missense			AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12				10856	10856		INO80 complex subunits, ATPases / AAA-type	10475	protein-coding gene	gene with protein product	reptin, INO80 complex subunit J	604788	RuvB (E coli homolog)-like 2, RuvB-like 2 (E. coli)		NA	10428817, 10998447	Standard		XM_005258426	NA	Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.655G>T	19.37:g.49513315G>T	ENSP00000473172:p.Gly219Cys	NA	Q6FIB9|Q6PK27|Q9Y361	37	CCDS42588.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038964	0.75617	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T	0.47177	0.85	4.19	4.19	0.49359	TIP49, C-terminal (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.77585	0.4152	H	0.95982	3.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	D	0.85128	0.0973	10	0.87932	D	0	-33.5793	14.4091	0.67103	0.0:0.0:1.0:0.0	.	219;219;185	B4DW30;Q9Y230;B3KNL2	.;RUVB2_HUMAN;.	C	219;174	ENSP00000413890:G174C	ENSP00000221413:G219C	G	+	1	0	RUVBL2	54205127	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	8.327000	0.90012	2.341000	0.79615	0.650000	0.86243	GGC	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466235.1		+	ENST00000595090.1	Missense_Mutation	SNP	19 : 49513315 - 49513315 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	254	50
KRT40	125115	broad.mit.edu	37	17	39137307	39137307	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39137307G>A	ENST00000398486.2	-	6	944	c.784C>T	c.(784-786)Cgc>Tgc	p.R262C	KRT40_ENST00000377755.4_Missense_Mutation_p.R262C	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	262	Coil 2.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				CACTGACAGCGCATCTCATCC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	170	167			NA	NA	17		NA											NA				39137307		2058	4214	6272	SO:0001583	missense			AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889	125115	125115		-, Intermediate filaments type I, keratins (acidic)	26707	protein-coding gene	gene with protein product					NA	16831889	Standard	NM_182497	NM_182497	NA	Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.784C>T	17.37:g.39137307G>A	ENSP00000381500:p.Arg262Cys	NA	Q6IFU5	37	CCDS42320.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297020	0.81025	.	.	ENSG00000204889	ENST00000377755;ENST00000398486	D;D	0.93426	-3.22;-3.22	5.4	4.37	0.52481	Filament (1);	0.000000	0.33092	N	0.005282	D	0.98055	0.9359	H	0.99211	4.47	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.98052	1.0388	10	0.87932	D	0	.	12.4322	0.55581	0.0:0.0:0.7146:0.2854	.	262	Q6A162	K1C40_HUMAN	C	262	ENSP00000366984:R262C;ENSP00000381500:R262C	ENSP00000366984:R262C	R	-	1	0	KRT40	36390833	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.085000	0.30840	2.688000	0.91661	0.655000	0.94253	CGC	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257701.3		-	ENST00000398486.2	Missense_Mutation	SNP	17 : 39137307 - 39137307 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	809	182
KMT2A	4297	broad.mit.edu	37	11	118355026	118355026	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118355026T>C	ENST00000534358.1	+	9	4238	c.4215T>C	c.(4213-4215)ttT>ttC	p.F1405F	KMT2A_ENST00000389506.5_Silent_p.F1405F|KMT2A_ENST00000354520.4_Silent_p.F1405F|KMT2A_ENST00000420751.2_3'UTR	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A	NA											NA						GAGTGGACTTTAAGGTAAAGG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	63	65			NA	NA	11		NA											NA				118355026		2200	4296	6496	SO:0001819	synonymous_variant			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058	4297	4297		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	7132	protein-coding gene	gene with protein product		159555	myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog), myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)	MLL	NA	1720549	Standard	NM_005933	NM_001197104	NA	Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000534358.1:c.4215T>C	11.37:g.118355026T>C		NA		37	CCDS55791.1																																																																																			KMT2A-001	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389228.2		+	ENST00000534358.1	Silent	SNP	11 : 118355026 - 118355026 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	73
MYT1	4661	broad.mit.edu	37	20	62837056	62837056	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62837056G>T	ENST00000328439.1	+	6	664	c.300G>T	c.(298-300)aaG>aaT	p.K100N	MYT1_ENST00000536311.1_Missense_Mutation_p.K100N|MYT1_ENST00000360149.4_Missense_Mutation_p.K100N	NM_004535.2	NP_004526.1	Q01538	MYT1_HUMAN	myelin transcription factor 1	100					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CTGAGGTGAAGGACGCCTCTG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(59;481 1041 20555 21139 33705)							NA				0													81	71	74			NA	NA	20		NA											NA				62837056		2203	4300	6503	SO:0001583	missense			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132	4661	4661		Zinc fingers, C2HC-type containing	7622	protein-coding gene	gene with protein product	neural zinc finger transcription factor 2	600379		PLPB1	NA	1280325, 9268380	Standard	NM_004535	NM_004535	NA	Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.300G>T	20.37:g.62837056G>T	ENSP00000327465:p.Lys100Asn	NA	E1P5H0|O94922|Q9UPV2	37	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153901	0.57259	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.50548	0.74;1.57;1.57	5.58	5.58	0.84498	.	0.252000	0.41194	D	0.000928	T	0.60051	0.2239	M	0.66939	2.045	0.24673	N	0.993402	D;D	0.59357	0.958;0.985	P;P	0.55508	0.558;0.777	T	0.58306	-0.7659	10	0.59425	D	0.04	-41.3035	13.5078	0.61493	0.0756:0.0:0.9244:0.0	.	100;100	Q01538;Q6P6D5	MYT1_HUMAN;.	N	100	ENSP00000353269:K100N;ENSP00000327465:K100N;ENSP00000442412:K100N	ENSP00000327465:K100N	K	+	3	2	MYT1	62307500	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	2.868000	0.48436	2.642000	0.89623	0.655000	0.94253	AAG	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080297.1		+	ENST00000328439.1	Missense_Mutation	SNP	20 : 62837056 - 62837056 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	245	25
NME4	4833	broad.mit.edu	37	16	449418	449418	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:449418C>T	ENST00000397722.1	+	3	529	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	NME4_ENST00000382940.4_Missense_Mutation_p.R97W|NME4_ENST00000450036.1_Missense_Mutation_p.R19W|NME4_ENST00000219479.2_Missense_Mutation_p.R89W			O00746	NDKM_HUMAN	NME/NM23 nucleoside diphosphate kinase 4	89					CTP biosynthetic process|GTP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|UTP biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			NS(1)|lung(1)|stomach(1)|urinary_tract(1)	4		Hepatocellular(16;0.00015)				CCAGGACCTGCGGAGGAAGCC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	161	162			NA	NA	16		NA											NA				449418		2202	4300	6502	SO:0001583	missense			Y07604	CCDS10408.1, CCDS66886.1, CCDS73797.1	16p13.3	2013-04-29	2012-05-18		ENSG00000103202	ENSG00000103202	4833	4833			7852	protein-coding gene	gene with protein product		601818	non-metastatic cells 4, protein expressed in		NA	9099850, 19852809	Standard	NM_005009	NM_005009	NA	Approved	nm23-H4, NM23H4, NDPKD	uc002cgz.3	O00746	OTTHUMG00000047995	ENST00000397722.1:c.55C>T	16.37:g.449418C>T	ENSP00000380834:p.Arg19Trp	NA	Q5U0M9	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.08|12.08	1.831977|1.831977	0.32421|0.32421	.|.	.|.	ENSG00000103202|ENSG00000103202	ENST00000433358|ENST00000397722;ENST00000454619;ENST00000219479;ENST00000382940;ENST00000450036	.|T;T;T;T;T	.|0.57107	.|0.42;0.42;0.42;0.42;0.42	4.74|4.74	-0.194|-0.194	0.13240|0.13240	.|.	.|0.575824	.|0.19021	.|N	.|0.124809	T|T	0.66839|0.66839	0.2830|0.2830	M|M	0.89715|0.89715	3.055|3.055	0.09310|0.09310	N|N	1|1	.|D	.|0.63046	.|0.992	.|P	.|0.51550	.|0.673	T|T	0.66980|0.66980	-0.5786|-0.5786	5|10	.|0.87932	.|D	.|0	-5.5321|-5.5321	13.8811|13.8811	0.63682|0.63682	0.5062:0.4938:0.0:0.0|0.5062:0.4938:0.0:0.0	.|.	.|89	.|O00746	.|NDKM_HUMAN	V|W	84|19;19;89;97;19	.|ENSP00000380834:R19W;ENSP00000406317:R19W;ENSP00000219479:R89W;ENSP00000372398:R97W;ENSP00000389048:R19W	.|ENSP00000219479:R89W	A|R	+|+	2|1	0|2	NME4|NME4	389419|389419	0.021000|0.021000	0.18746|0.18746	0.001000|0.001000	0.08648|0.08648	0.345000|0.345000	0.29048|0.29048	1.056000|1.056000	0.30480|0.30480	0.161000|0.161000	0.19458|0.19458	-0.521000|-0.521000	0.04368|0.04368	GCG|CGG	NME4-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000139525.4		+	ENST00000397722.1	Missense_Mutation	SNP	16 : 449418 - 449418 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1348	298
ZNF749	388567	broad.mit.edu	37	19	57954768	57954768	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57954768G>A	ENST00000334181.4	+	3	502	c.252G>A	c.(250-252)caG>caA	p.Q84Q	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	84	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TGAAGGCCCAGCCCTGCAAGA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	75	78			NA	NA	19		NA											NA				57954768		2203	4300	6503	SO:0001819	synonymous_variant			AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230	388567	388567		Zinc fingers, C2H2-type, -	32783	protein-coding gene	gene with protein product					NA		Standard	NM_001023561	NM_001023561	NA	Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.252G>A	19.37:g.57954768G>A		NA		37	CCDS33132.2																																																																																			ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317879.1		+	ENST00000334181.4	Silent	SNP	19 : 57954768 - 57954768 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	244	57
PRTG	283659	broad.mit.edu	37	15	55964735	55964735	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55964735C>T	ENST00000389286.4	-	11	1996	c.1949G>A	c.(1948-1950)gGc>gAc	p.G650D		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	650	Fibronectin type-III 3.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CAGCTTGTAGCCCTGAATAGC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	118	119			NA	NA	15		NA											NA				55964735		1950	4125	6075	SO:0001583	missense			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450	283659	283659		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	26373	protein-coding gene	gene with protein product	immunoglobulin superfamily, DCC subclass, member 5	613261	protogenin homolog (Gallus gallus)		NA		Standard	NM_173814	NM_173814	NA	Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1949G>A	15.37:g.55964735C>T	ENSP00000373937:p.Gly650Asp	NA	Q8N7D8	37	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004642	0.93287	.	.	ENSG00000166450	ENST00000389286	T	0.37235	1.21	5.52	5.52	0.82312	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.267337	0.42964	D	0.000640	T	0.68787	0.3039	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75439	-0.3317	10	0.72032	D	0.01	-15.1368	18.4581	0.90728	0.0:1.0:0.0:0.0	.	650	Q2VWP7	PRTG_HUMAN	D	650	ENSP00000373937:G650D	ENSP00000373937:G650D	G	-	2	0	PRTG	53752027	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.537000	0.82033	2.591000	0.87537	0.650000	0.86243	GGC	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419357.1		-	ENST00000389286.4	Missense_Mutation	SNP	15 : 55964735 - 55964735 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	377	75
ANO9	338440	broad.mit.edu	37	11	420737	420737	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:420737G>A	ENST00000332826.6	-	18	1698	c.1614C>T	c.(1612-1614)ttC>ttT	p.F538F		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	538						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						TGAACTCGTCGAACAGGCTGA	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	25	24			NA	NA	11		NA											NA				420737		2198	4296	6494	SO:0001819	synonymous_variant			U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101	338440	338440		Ion channels / Chloride channels : Calcium activated : Anoctamins	20679	protein-coding gene	gene with protein product			tumor protein p53 inducible protein 5, transmembrane protein 16J	TP53I5, TMEM16J	NA	9305847, 24692353	Standard	NM_001012302	NM_001012302	NA	Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.1614C>T	11.37:g.420737G>A		NA	B3KUC4|B4E134|Q8TEN4	37	CCDS31326.1																																																																																			ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384116.1		-	ENST00000332826.6	Silent	SNP	11 : 420737 - 420737 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	145	27
MYBPC3	4607	broad.mit.edu	37	11	47355139	47355139	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47355139C>A	ENST00000545968.1	-	29	3213	c.3159G>T	c.(3157-3159)gaG>gaT	p.E1053D	MYBPC3_ENST00000399249.2_Missense_Mutation_p.E1053D|MYBPC3_ENST00000256993.4_Missense_Mutation_p.E1052D	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1052	Ig-like C2-type 6.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TGGCCTTGTCCTCCATGTTCT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	75	73			NA	NA	11		NA											NA				47355139		2178	4257	6435	SO:0001583	missense			X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571	4607	4607		Myosin binding proteins, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	7551	protein-coding gene	gene with protein product		600958	myosin-binding protein C, cardiac	CMH4	NA	7744002, 8358441	Standard		NM_000256	NA	Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.3159G>T	11.37:g.47355139C>A	ENSP00000442795:p.Glu1053Asp	NA	Q16410|Q6R2F7|Q9UE27|Q9UM53	37	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.642978	0.67244	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.69435	-0.4;-0.4;-0.4	5.22	3.21	0.36854	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69851	0.3157	M	0.80982	2.52	0.42771	D	0.993839	P	0.37015	0.578	P	0.45712	0.491	T	0.65187	-0.6229	9	0.19590	T	0.45	.	8.5207	0.33273	0.2191:0.6975:0.0:0.0834	.	1052	Q14896	MYPC3_HUMAN	D	1053;1053;1052	ENSP00000442795:E1053D;ENSP00000382193:E1053D;ENSP00000256993:E1052D	ENSP00000256993:E1052D	E	-	3	2	MYBPC3	47311715	0.983000	0.35010	1.000000	0.80357	0.974000	0.67602	0.206000	0.17375	1.198000	0.43158	0.484000	0.47621	GAG	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392271.3		-	ENST00000545968.1	Missense_Mutation	SNP	11 : 47355139 - 47355139 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	321	55
YIPF3	25844	broad.mit.edu	37	6	43480031	43480031	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43480031G>T	ENST00000506469.1	-	9	1078	c.945C>A	c.(943-945)ggC>ggA	p.G315G	YIPF3_ENST00000372422.2_Silent_p.G309G			Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	309					cell differentiation	integral to membrane|plasma membrane|transport vesicle				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GGATGTTGGGGCCCTCCAGTG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	79	76			NA	NA	6		NA											NA				43480031		2203	4300	6503	SO:0001819	synonymous_variant			AK000946	CCDS4899.1	6p21.1	2009-10-06	2005-07-04	2005-07-04	ENSG00000137207	ENSG00000137207	25844	25844		Yip1 domain family	21023	protein-coding gene	gene with protein product		609775	chromosome 6 open reading frame 109	C6orf109	NA		Standard	NM_015388	NM_015388	NA	Approved	DKFZp566C243, KLIP1, dJ337H4.3, FinGER3	uc003ovl.2	Q9GZM5	OTTHUMG00000014738	ENST00000506469.1:c.945C>A	6.37:g.43480031G>T		NA	Q5JTD2|Q6FI85|Q8NI57|Q9NWE3|Q9Y3U9	37																																																																																				YIPF3-012	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000358714.1		-	ENST00000506469.1	Silent	SNP	6 : 43480031 - 43480031 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	531	99
ANKLE2	23141	broad.mit.edu	37	12	133331501	133331501	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133331501G>T	ENST00000539605.1	-	1	6898	c.214C>A	c.(214-216)Cca>Aca	p.P72T	ANKLE2_ENST00000357997.5_Missense_Mutation_p.P134T|ANKLE2_ENST00000337516.5_Missense_Mutation_p.P134T			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	134	LEM.					cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		ATCCTTTGTGGGTCCTGGCTG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	61	61			NA	NA	12		NA											NA				133331501		1909	4130	6039	SO:0001583	missense			AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915	23141	23141		Ankyrin repeat domain containing	29101	protein-coding gene	gene with protein product	LEM domain containing 7		KIAA0692	KIAA0692	NA	9734811	Standard		XM_005266159	NA	Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000539605.1:c.214C>A	12.37:g.133331501G>T	ENSP00000446268:p.Pro72Thr	NA	O75176|Q6P6A5|Q8TAZ9|Q96DH4	37		.	.	.	.	.	.	.	.	.	.	G	0.036	-1.304815	0.01353	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516	T;T;T	0.27104	2.11;2.12;1.69	5.27	0.0898	0.14460	.	0.936787	0.09106	N	0.847758	T	0.04003	0.0112	N	0.00099	-2.14	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38607	-0.9653	10	0.02654	T	1	-5.3471	5.8122	0.18471	0.0:0.1446:0.2667:0.5888	.	134;134	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	T	72;134;134	ENSP00000446268:P72T;ENSP00000350686:P134T;ENSP00000337651:P134T	ENSP00000337651:P134T	P	-	1	0	ANKLE2	131841574	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.065000	0.11617	-0.217000	0.10033	-0.265000	0.10407	CCA	ANKLE2-002	KNOWN	alternative_5_UTR|basic	protein_coding	NA	protein_coding	OTTHUMT00000397711.1		-	ENST00000539605.1	Missense_Mutation	SNP	12 : 133331501 - 133331501 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	314	71
CSHL1	1444	broad.mit.edu	37	17	61988202	61988202	+	Silent	SNP	G	G	T	rs112072490	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61988202G>T	ENST00000309894.5	-	2	92	c.93C>A	c.(91-93)ccC>ccA	p.P31P	CSHL1_ENST00000392824.4_Silent_p.P31P|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000561003.1_Intron	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	31						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						GCCTGGATAAGGGAACGGTTT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	61	60			NA	NA	17		NA											NA				61988202		2203	4300	6503	SO:0001819	synonymous_variant			BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02					1444	1444			2442	protein-coding gene	gene with protein product	chorionic somatomammotropin CS-5	603515		CSHP1	NA	8083227	Standard	NM_022579	NM_001318	NA	Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406		ENST00000309894.5:c.93C>A	17.37:g.61988202G>T		NA	D3DU26|D3DU27|Q0VDB2	37	CCDS11652.1																																																																																			CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444557.1		-	ENST00000309894.5	Silent	SNP	17 : 61988202 - 61988202 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	650	95
SLIT3	6586	broad.mit.edu	37	5	168139347	168139347	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:168139347G>T	ENST00000519560.1	-	24	2915	c.2496C>A	c.(2494-2496)ggC>ggA	p.G832G	SLIT3_ENST00000404867.3_Silent_p.G832G|SLIT3_ENST00000332966.8_Silent_p.G832G|CTC-558O2.1_ENST00000522615.1_RNA	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	832					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAATGTCATTGCCATGGAGGG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(29;311 847 10864 17279 24903)							NA				0													140	127	131			NA	NA	5		NA											NA				168139347		2203	4300	6503	SO:0001819	synonymous_variant			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347	6586	6586			11087	protein-coding gene	gene with protein product		603745	slit (Drosophila) homolog 3	SLIL2	NA	9693030, 9813312	Standard	NM_003062	NM_001271946	NA	Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.2496C>A	5.37:g.168139347G>T		NA	A6H8U9|O95804|Q9UFH5	37	CCDS4369.1																																																																																			SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252792.4		-	ENST00000519560.1	Silent	SNP	5 : 168139347 - 168139347 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	375	30
ATCAY	85300	broad.mit.edu	37	19	3909544	3909544	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3909544C>T	ENST00000450849.2	+	7	1175	c.708C>T	c.(706-708)aaC>aaT	p.N236N	ATCAY_ENST00000301260.6_Silent_p.N236N|ATCAY_ENST00000600960.1_Silent_p.N236N|ATCAY_ENST00000398448.3_Silent_p.N242N	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	236	CRAL-TRIO.				transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		TGTACCTGAACGGTGCCACGC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	55	53			NA	NA	19		NA											NA				3909544		2132	4241	6373	SO:0001819	synonymous_variant				CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654	85300	85300			779	protein-coding gene	gene with protein product	Cayman ataxia, caytaxin	608179			NA	8845847, 14556008	Standard		NM_033064	NA	Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.708C>T	19.37:g.3909544C>T		NA	Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	37	CCDS45923.1																																																																																			ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457872.2		+	ENST00000450849.2	Silent	SNP	19 : 3909544 - 3909544 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	188	38
VPS36	51028	broad.mit.edu	37	13	53007820	53007820	+	Nonsense_Mutation	SNP	C	C	A	rs144817587		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53007820C>A	ENST00000378060.4	-	6	532	c.505G>T	c.(505-507)Gaa>Taa	p.E169*		NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	169					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding	p.E169K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		TTGTCAGTTTCTTTTCTTTTT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	skin(1)											127	149	141			NA	NA	13		NA											NA				53007820		2201	4299	6500	SO:0001587	stop_gained			AF151903	CCDS9434.1, CCDS73577.1	13q14.13	2008-02-05	2007-01-12	2005-08-02	ENSG00000136100	ENSG00000136100	51028	51028			20312	protein-coding gene	gene with protein product		610903	chromosome 13 open reading frame 9, vacuolar protein sorting 36 homolog (yeast)	C13orf9	NA	11278625, 15755741	Standard		NM_016075	NA	Approved	CGI-145, Eap45	uc001vgs.3	Q86VN1	OTTHUMG00000016964	ENST00000378060.4:c.505G>T	13.37:g.53007820C>A	ENSP00000367299:p.Glu169*	NA	A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	37	CCDS9434.1	.	.	.	.	.	.	.	.	.	.	.	36	5.669719	0.96754	.	.	ENSG00000136100	ENST00000378060	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-1.1812	19.1901	0.93663	0.0:1.0:0.0:0.0	.	.	.	.	X	169	.	ENSP00000367299:E169X	E	-	1	0	VPS36	51905821	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.307000	0.78920	2.776000	0.95493	0.655000	0.94253	GAA	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045059.3		-	ENST00000378060.4	Nonsense_Mutation	SNP	13 : 53007820 - 53007820 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	272	47
STMN1	3925	broad.mit.edu	37	1	26230290	26230290	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26230290C>A	ENST00000399728.1	-	3	391	c.28G>T	c.(28-30)Gaa>Taa	p.E10*	STMN1_ENST00000357865.2_Nonsense_Mutation_p.E10*|STMN1_ENST00000426559.2_Nonsense_Mutation_p.E10*|STMN1_ENST00000465604.1_5'UTR|STMN1_ENST00000374291.1_Nonsense_Mutation_p.E10*|STMN1_ENST00000455785.2_Nonsense_Mutation_p.E10*	NM_203401.1	NP_981946.1	P16949	STMN1_HUMAN	stathmin 1	10					cell differentiation|intracellular signal transduction|microtubule depolymerization|mitotic spindle organization|nervous system development|response to virus	cytoplasm|microtubule	signal transducer activity|tubulin binding			breast(2)|large_intestine(2)|skin(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000163)|all_lung(284;0.000234)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.013)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTCCAGTTCTTTCACCTGG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	43	42			NA	NA	1		NA											NA				26230290		2202	4300	6502	SO:0001587	stop_gained			J04991	CCDS269.1, CCDS44090.1	1p36.11	2011-02-09	2009-04-28	2001-07-13	ENSG00000117632	ENSG00000117632	3925	3925			6510	protein-coding gene	gene with protein product	oncoprotein 18	151442	chromosome 1 open reading frame 215, stathmin 1/oncoprotein 18	LAP18, C1orf215	NA	2917975	Standard	NM_005563	NM_005563	NA	Approved	SMN, OP18, PR22, PP19, PP17, Lag, FLJ32206	uc010oev.2	P16949	OTTHUMG00000007389	ENST00000399728.1:c.28G>T	1.37:g.26230290C>A	ENSP00000382633:p.Glu10*	NA	A2A2D1|B2R4E7|B7Z8N4|D3DPJ5	37	CCDS269.1	.	.	.	.	.	.	.	.	.	.	C	41	9.112063	0.99069	.	.	ENSG00000117632	ENST00000426559;ENST00000455785;ENST00000399728;ENST00000357865;ENST00000374291;ENST00000446334	.	.	.	5.72	5.72	0.89469	.	0.104283	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	19.5069	0.95121	0.0:1.0:0.0:0.0	.	.	.	.	X	10	.	ENSP00000350531:E10X	E	-	1	0	STMN1	26102877	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.762000	0.85270	2.717000	0.92951	0.655000	0.94253	GAA	STMN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019359.1		-	ENST00000399728.1	Nonsense_Mutation	SNP	1 : 26230290 - 26230290 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	31
MYBPC1	4604	broad.mit.edu	37	12	102067280	102067280	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102067280T>G	ENST00000549145.1	+	25	2807	c.2707T>G	c.(2707-2709)Tct>Gct	p.S903A	MYBPC1_ENST00000553190.1_Missense_Mutation_p.S872A|MYBPC1_ENST00000392934.3_Missense_Mutation_p.S859A|MYBPC1_ENST00000545503.2_Missense_Mutation_p.S872A|MYBPC1_ENST00000547509.1_Missense_Mutation_p.S858A|MYBPC1_ENST00000361466.2_Missense_Mutation_p.S897A|MYBPC1_ENST00000452455.2_Missense_Mutation_p.S890A|MYBPC1_ENST00000441232.1_Missense_Mutation_p.S890A|MYBPC1_ENST00000551300.1_Missense_Mutation_p.S773A|MYBPC1_ENST00000361685.2_Missense_Mutation_p.S897A|MYBPC1_ENST00000360610.2_Missense_Mutation_p.S890A|MYBPC1_ENST00000541119.1_Missense_Mutation_p.S860A|MYBPC1_ENST00000547405.1_Missense_Mutation_p.S846A|MYBPC1_ENST00000550270.1_Missense_Mutation_p.S890A|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Missense_Mutation_p.S853A			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	890	Ig-like C2-type 6.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CATTCGCAACTCTGAGACTGA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	153	150			NA	NA	12		NA											NA				102067280		2203	4300	6503	SO:0001583	missense				CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091	4604	4604		Myosin binding proteins, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	7549	protein-coding gene	gene with protein product		160794	myosin-binding protein C, slow-type		NA	8375400, 16918501	Standard		NM_002465	NA	Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000549145.1:c.2707T>G	12.37:g.102067280T>G	ENSP00000447660:p.Ser903Ala	NA	Q15497|Q569K7|Q8N3L2	37		.	.	.	.	.	.	.	.	.	.	T	15.39	2.818772	0.50633	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.75	5.75	0.90469	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.144208	0.32287	N	0.006318	T	0.78761	0.4334	M	0.79123	2.44	0.38230	D	0.941003	B;B;B;B;B;B;B;B;B;B	0.24317	0.006;0.051;0.101;0.025;0.013;0.089;0.023;0.028;0.094;0.004	B;B;P;B;B;P;B;B;B;B	0.48598	0.102;0.361;0.583;0.261;0.159;0.583;0.247;0.428;0.302;0.111	T	0.81300	-0.0995	10	0.87932	D	0	.	9.6098	0.39657	0.2618:0.0:0.0:0.7382	.	853;860;890;872;859;846;872;890;897;897	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	A	846;890;890;890;859;858;897;903;872;872;853;860;897;773;890	ENSP00000448175:S846A;ENSP00000400908:S890A;ENSP00000388989:S890A;ENSP00000353822:S890A;ENSP00000376665:S859A;ENSP00000447362:S858A;ENSP00000354845:S897A;ENSP00000447660:S903A;ENSP00000447900:S872A;ENSP00000440034:S872A;ENSP00000446128:S853A;ENSP00000442847:S860A;ENSP00000354849:S897A;ENSP00000447116:S773A;ENSP00000449702:S890A	ENSP00000353822:S890A	S	+	1	0	MYBPC1	100591411	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.124000	0.64709	2.189000	0.69895	0.454000	0.30748	TCT	MYBPC1-013	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000408273.2		+	ENST00000549145.1	Missense_Mutation	SNP	12 : 102067280 - 102067280 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	790	167
CNTNAP1	8506	broad.mit.edu	37	17	40837321	40837321	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40837321G>A	ENST00000264638.4	+	5	815	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	200					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GGACGTGTTCGCCTTCAGCTT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	87	93			NA	NA	17		NA											NA				40837321		2203	4300	6503	SO:0001583	missense			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797	8506	8506			8011	protein-coding gene	gene with protein product	neurexin 4	602346		NRXN4	NA	9118959	Standard	NM_003632	NM_003632	NA	Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.598G>A	17.37:g.40837321G>A	ENSP00000264638:p.Ala200Thr	NA		37	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480734	0.63849	.	.	ENSG00000108797	ENST00000264638	T	0.78816	-1.21	5.11	4.11	0.48088	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.284951	0.29466	N	0.012079	T	0.62085	0.2399	L	0.29908	0.895	0.38646	D	0.951717	D	0.53312	0.959	B	0.38225	0.268	T	0.63001	-0.6734	10	0.34782	T	0.22	.	9.6221	0.39727	0.0:0.1434:0.6871:0.1696	.	200	P78357	CNTP1_HUMAN	T	200	ENSP00000264638:A200T	ENSP00000264638:A200T	A	+	1	0	CNTNAP1	38090847	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.834000	0.55798	1.069000	0.40788	0.561000	0.74099	GCC	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452342.1		+	ENST00000264638.4	Missense_Mutation	SNP	17 : 40837321 - 40837321 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	465	106
DDX51	317781	broad.mit.edu	37	12	132625245	132625245	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132625245C>T	ENST00000397333.3	-	10	1514	c.1476G>A	c.(1474-1476)ccG>ccA	p.P492P		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	492					rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GGACGACCAGCGGCTTAGAGC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	75	71			NA	NA	12		NA											NA				132625245		2071	4207	6278	SO:0001819	synonymous_variant			BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163	317781	317781		DEAD-boxes	20082	protein-coding gene	gene with protein product					NA		Standard	NM_175066	NM_175066	NA	Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.1476G>A	12.37:g.132625245C>T		NA	A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	37	CCDS41865.1																																																																																			DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398978.1		-	ENST00000397333.3	Silent	SNP	12 : 132625245 - 132625245 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	445	36
HECTD1	25831	broad.mit.edu	37	14	31597990	31597990	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31597990G>T	ENST00000399332.1	-	25	5075	c.4587C>A	c.(4585-4587)agC>agA	p.S1529R	HECTD1_ENST00000553700.1_Missense_Mutation_p.S1529R	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1529	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTGCACTAGAGCTCATAGGGG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	63	65			NA	NA	14		NA											NA				31597990		1910	4126	6036	SO:0001583	missense			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148	25831	25831		Ankyrin repeat domain containing	20157	protein-coding gene	gene with protein product			HECT domain containing 1		NA	10574461	Standard		XM_005267502	NA	Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.4587C>A	14.37:g.31597990G>T	ENSP00000382269:p.Ser1529Arg	NA	Q6P445|Q86VJ1|Q96F34|Q9UFZ7	37	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036545	0.35893	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	T;T;T	0.56103	0.85;0.85;0.48	6.16	5.28	0.74379	.	0.000000	0.85682	U	0.000000	T	0.53818	0.1820	N	0.19112	0.55	0.80722	D	1	D;D	0.61697	0.99;0.99	D;D	0.69142	0.962;0.962	T	0.54853	-0.8231	10	0.40728	T	0.16	-7.3109	9.5157	0.39104	0.2074:0.0:0.7926:0.0	.	1529;1529	D3DS86;Q9ULT8	.;HECD1_HUMAN	R	1529;1531;1529;956	ENSP00000450697:S1529R;ENSP00000382269:S1529R;ENSP00000451860:S956R	ENSP00000261312:S1531R	S	-	3	2	HECTD1	30667741	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.709000	0.54853	1.626000	0.50381	0.650000	0.86243	AGC	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409942.1		-	ENST00000399332.1	Missense_Mutation	SNP	14 : 31597990 - 31597990 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	203	48
PPP1R27	116729	broad.mit.edu	37	17	79792819	79792819	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79792819C>A	ENST00000570394.1	-	1	107	c.11G>T	c.(10-12)aGa>aTa	p.R4I	PPP1R27_ENST00000330261.4_Missense_Mutation_p.R4I			Q86WC6	DYSI1_HUMAN	protein phosphatase 1, regulatory subunit 27	4											NA						GCGGGCAGTTCTGCTAGGCAT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	22	21			NA	NA	17		NA											NA				79792819		2202	4295	6497	SO:0001583	missense			AF434846	CCDS32767.1	17q25.3	2013-01-10	2011-10-11	2011-10-11	ENSG00000182676	ENSG00000182676	116729	116729		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Ankyrin repeat domain containing	16813	protein-coding gene	gene with protein product			dysferlin-interacting protein 1 (toonin), dysferlin interacting protein 1 (toonin), dysferlin interacting protein 1	DYSFIP1	NA		Standard	NM_001007533	NM_001007533	NA	Approved	toonin	uc002kbj.1	Q86WC6		ENST00000570394.1:c.11G>T	17.37:g.79792819C>A	ENSP00000459421:p.Arg4Ile	NA		37		.	.	.	.	.	.	.	.	.	.	C	23.4	4.417275	0.83449	.	.	ENSG00000182676	ENST00000330261	T	0.62639	0.01	4.86	3.85	0.44370	.	0.384765	0.24683	N	0.036441	T	0.39009	0.1062	N	0.08118	0	0.44207	D	0.997034	B	0.26935	0.164	B	0.21917	0.037	T	0.38090	-0.9677	10	0.49607	T	0.09	.	9.9909	0.41870	0.1517:0.7011:0.1473:0.0	.	4	Q86WC6	PPR27_HUMAN	I	4	ENSP00000331065:R4I	ENSP00000331065:R4I	R	-	2	0	DYSFIP1	77386108	0.391000	0.25221	0.988000	0.46212	0.907000	0.53573	0.988000	0.29616	2.251000	0.74343	0.561000	0.74099	AGA	PPP1R27-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000439694.1		-	ENST00000570394.1	Missense_Mutation	SNP	17 : 79792819 - 79792819 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	116	19
DSP	1832	broad.mit.edu	37	6	7579637	7579637	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7579637T>C	ENST00000379802.3	+	23	3555	c.3214T>C	c.(3214-3216)Ttc>Ctc	p.F1072L	DSP_ENST00000418664.2_Missense_Mutation_p.F1072L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1072	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GTGTTCCCAGTTCAAAGCGAA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	74	72			NA	NA	6		NA											NA				7579637		2203	4300	6503	SO:0001583	missense			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696	1832	1832			3052	protein-coding gene	gene with protein product		125647	desmoplakin (DPI, DPII)		NA	1889810	Standard	NM_004415	NM_004415	NA	Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.3214T>C	6.37:g.7579637T>C	ENSP00000369129:p.Phe1072Leu	NA	B2RTT2|O75993|Q14189|Q9UHN4	37	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	T	12.16	1.854328	0.32791	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.71222	-0.55;-0.55	5.67	5.67	0.87782	.	0.088267	0.49916	D	0.000125	T	0.18215	0.0437	N	0.02539	-0.55	0.33600	D	0.602217	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.09552	-1.0669	10	0.02654	T	1	.	8.5066	0.33190	0.0:0.1149:0.0:0.8851	.	1119;1072	Q4LE79;P15924	.;DESP_HUMAN	L	1072;1072;877	ENSP00000369129:F1072L;ENSP00000396591:F1072L	ENSP00000369129:F1072L	F	+	1	0	DSP	7524636	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.058000	0.57463	2.159000	0.67721	0.454000	0.30748	TTC	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039786.2		+	ENST00000379802.3	Missense_Mutation	SNP	6 : 7579637 - 7579637 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	409	22
ARMC1	55156	broad.mit.edu	37	8	66539594	66539594	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:66539594C>T	ENST00000276569.3	-	2	284	c.40G>A	c.(40-42)Gct>Act	p.A14T	ARMC1_ENST00000523384.1_5'UTR|ARMC1_ENST00000458464.2_5'UTR	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	14					metal ion transport		metal ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			ACCGATAGAGCGTCAGGCTCT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	124	127			NA	NA	8		NA											NA				66539594		2203	4300	6503	SO:0001583	missense			BC011607	CCDS6181.1, CCDS69490.1	8q12.3	2013-02-14			ENSG00000104442	ENSG00000104442	55156	55156		Armadillo repeat containing	17684	protein-coding gene	gene with protein product					NA		Standard	NM_018120	XM_005251264	NA	Approved	FLJ10511, Arcp	uc003xvl.3	Q9NVT9	OTTHUMG00000164374	ENST00000276569.3:c.40G>A	8.37:g.66539594C>T	ENSP00000276569:p.Ala14Thr	NA	Q9H018|Q9H820	37	CCDS6181.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548034	0.86022	.	.	ENSG00000104442	ENST00000276569;ENST00000518908;ENST00000519352	T;T;T	0.51071	0.72;0.72;0.72	5.61	5.61	0.85477	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.49779	0.1577	M	0.74881	2.28	0.80722	D	1	P	0.48640	0.913	B	0.36378	0.223	T	0.60870	-0.7177	10	0.59425	D	0.04	.	19.6375	0.95740	0.0:1.0:0.0:0.0	.	14	Q9NVT9	ARMC1_HUMAN	T	14	ENSP00000276569:A14T;ENSP00000429191:A14T;ENSP00000429715:A14T	ENSP00000276569:A14T	A	-	1	0	ARMC1	66702148	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	7.474000	0.81024	2.640000	0.89533	0.655000	0.94253	GCT	ARMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378480.1		-	ENST00000276569.3	Missense_Mutation	SNP	8 : 66539594 - 66539594 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	608	115
ANKS6	203286	broad.mit.edu	37	9	101536359	101536359	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101536359G>A	ENST00000375019.2	-	8	1040	c.718C>T	c.(718-720)Cga>Tga	p.R240*	ANKS6_ENST00000353234.4_Nonsense_Mutation_p.R541*|ANKS6_ENST00000540940.1_Nonsense_Mutation_p.R346*|ANKS6_ENST00000375018.1_Nonsense_Mutation_p.R541*			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	541										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GCTCCGTTTCGAAGCTGAAAA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	35	33			NA	NA	9		NA											NA				101536359		1896	4122	6018	SO:0001587	stop_gained			AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138	203286	203286		Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	26724	protein-coding gene	gene with protein product		615370	sterile alpha motif domain containing 6, ankyrin repeat domain 14	SAMD6, ANKRD14	NA	23793029	Standard	NM_173551	XM_005251793	NA	Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000375019.2:c.718C>T	9.37:g.101536359G>A	ENSP00000364159:p.Arg240*	NA	A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.348455|5.348455	0.95807|0.95807	.|.	.|.	ENSG00000165138|ENSG00000165138	ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940|ENST00000444472	.|.	.|.	.|.	5.48|5.48	4.5|4.5	0.54988|0.54988	.|.	0.107337|.	0.64402|.	D|.	0.000008|.	.|T	.|0.61009	.|0.2313	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67658	.|-0.5614	.|3	0.02654|.	T|.	1|.	-11.1796|-11.1796	12.2897|12.2897	0.54810|0.54810	0.0:0.0:0.7562:0.2438|0.0:0.0:0.7562:0.2438	.|.	.|.	.|.	.|.	X|L	240;541;541;346|9	.|.	ENSP00000297837:R541X|.	R|S	-|-	1|2	2|0	ANKS6|ANKS6	100576180|100576180	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.954000|0.954000	0.61252|0.61252	4.849000|4.849000	0.62882|0.62882	2.580000|2.580000	0.87095|0.87095	0.561000|0.561000	0.74099|0.74099	CGA|TCG	ANKS6-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000053378.2		-	ENST00000375019.2	Nonsense_Mutation	SNP	9 : 101536359 - 101536359 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	229	30
MN1	4330	broad.mit.edu	37	22	28195094	28195094	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28195094C>T	ENST00000302326.4	-	1	2392	c.1438G>A	c.(1438-1440)Ggc>Agc	p.G480S		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	480							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TCCAGAGCGCCGTTGTGCATG	0.682		NA	T	ETV6	AML, meningioma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		L, O	0													16	20	19			NA	NA	22		NA											NA				28195094		2115	4230	6345	SO:0001583	missense			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184	4330	4330			7180	protein-coding gene	gene with protein product	probable tumor suppressor protein MN1	156100	meningioma chromosome region	MGCR	NA	7731706, 12569362	Standard	NM_002430	NM_002430	NA	Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1438G>A	22.37:g.28195094C>T	ENSP00000304956:p.Gly480Ser	NA	A9Z1V9	37	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100381	0.56183	.	.	ENSG00000169184	ENST00000302326	T	0.45668	0.89	4.54	4.54	0.55810	.	0.220885	0.31156	N	0.008158	T	0.21962	0.0529	N	0.14661	0.345	0.27568	N	0.94996	P	0.38300	0.626	B	0.29267	0.1	T	0.10520	-1.0626	10	0.25751	T	0.34	-14.7531	12.6665	0.56846	0.0:0.8326:0.1674:0.0	.	480	Q10571	MN1_HUMAN	S	480	ENSP00000304956:G480S	ENSP00000304956:G480S	G	-	1	0	MN1	26525094	1.000000	0.71417	0.997000	0.53966	0.762000	0.43233	2.263000	0.43293	2.074000	0.62210	0.313000	0.20887	GGC	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320737.1		-	ENST00000302326.4	Missense_Mutation	SNP	22 : 28195094 - 28195094 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	180	29
PXDNL	137902	broad.mit.edu	37	8	52258438	52258438	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:52258438C>A	ENST00000356297.4	-	20	4071	c.3971G>T	c.(3970-3972)aGc>aTc	p.S1324I	PXDNL_ENST00000543296.1_Intron	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1324					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AACAGGATAGCTGTATTGAGC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	138	141			NA	NA	8		NA											NA				52258438		1924	4125	6049	SO:0001583	missense				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485	137902	137902		Immunoglobulin superfamily / I-set domain containing	26359	protein-coding gene	gene with protein product	polysomal ribonuclease 1 homolog (Xenopus)	615904	peroxidasin homolog-like (Drosophila)		NA	22543864	Standard	NM_144651	NM_144651	NA	Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3971G>T	8.37:g.52258438C>A	ENSP00000348645:p.Ser1324Ile	NA	B5ME43|B6CGZ3|Q6ZMR2|Q96LH9	37	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.86|11.86	1.765638|1.765638	0.31228|0.31228	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000522933|ENST00000356297	.|T	.|0.67698	.|-0.28	4.53|4.53	-0.773|-0.773	0.10995|0.10995	.|.	.|.	.|.	.|.	.|.	T|T	0.55832|0.55832	0.1945|0.1945	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	.|P	.|0.48016	.|0.904	.|P	.|0.46543	.|0.52	T|T	0.49000|0.49000	-0.8984|-0.8984	5|9	.|0.51188	.|T	.|0.08	.|.	6.3897|6.3897	0.21579|0.21579	0.0:0.5412:0.1284:0.3304|0.0:0.5412:0.1284:0.3304	.|.	.|1324	.|A1KZ92	.|PXDNL_HUMAN	S|I	398|1324	.|ENSP00000348645:S1324I	.|ENSP00000348645:S1324I	A|S	-|-	1|2	0|0	PXDNL|PXDNL	52420991|52420991	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.259000|-0.259000	0.08721|0.08721	-0.976000|-0.976000	0.03542|0.03542	-0.797000|-0.797000	0.03246|0.03246	GCT|AGC	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377905.1		-	ENST00000356297.4	Missense_Mutation	SNP	8 : 52258438 - 52258438 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	274	45
KLK15	55554	broad.mit.edu	37	19	51330304	51330304	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51330304C>T	ENST00000326856.4	-	4	437	c.308G>A	c.(307-309)cGc>cAc	p.R103H	KLK15_ENST00000416184.1_Missense_Mutation_p.R104H|KLK15_ENST00000596931.1_Missense_Mutation_p.R103H|KLK15_ENST00000301421.2_Missense_Mutation_p.R104H|KLK15_ENST00000598239.1_Missense_Mutation_p.R104H	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	104	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GATGTCGTTGCGGTGGCTGCG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(140;10 2513 7143 9246)							NA				0													65	58	61			NA	NA	19		NA											NA				51330304		2200	4298	6498	SO:0001583	missense			AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562	55554	55554		Kallikreins	20453	protein-coding gene	gene with protein product		610601	kallikrein 15		NA	11010966, 12439720, 16800724, 16800723	Standard	NM_017509	NM_017509	NA	Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000326856.4:c.308G>A	19.37:g.51330304C>T	ENSP00000314783:p.Arg103His	NA	A0AUY8|Q15358|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	37		.	.	.	.	.	.	.	.	.	.	c	14.60	2.584354	0.46110	.	.	ENSG00000174562	ENST00000326856;ENST00000416184;ENST00000301421;ENST00000544946	D;D	0.88586	-2.4;-2.4	4.39	-8.27	0.01017	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.832426	0.10336	N	0.686950	T	0.72095	0.3418	N	0.11673	0.155	0.09310	N	0.999995	B;B;B;B	0.28419	0.097;0.063;0.211;0.208	B;B;B;B	0.30716	0.038;0.032;0.119;0.11	T	0.62581	-0.6824	10	0.59425	D	0.04	.	5.7109	0.17935	0.5217:0.2582:0.0:0.22	.	104;103;104;104	Q6UBM2;Q6ISI0;Q9H2R5-4;Q9H2R5	.;.;.;KLK15_HUMAN	H	104	ENSP00000415136:R104H;ENSP00000301421:R104H	ENSP00000301421:R104H	R	-	2	0	KLK15	56022116	0.014000	0.17966	0.002000	0.10522	0.227000	0.25037	0.169000	0.16641	-1.179000	0.02737	0.555000	0.69702	CGC	KLK15-001	NOVEL	NAGNAG_splice_site|basic	protein_coding	NA	protein_coding	OTTHUMT00000465158.1		-	ENST00000326856.4	Missense_Mutation	SNP	19 : 51330304 - 51330304 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	595	27
ADAM2	2515	broad.mit.edu	37	8	39606846	39606846	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39606846G>A	ENST00000379853.2	-	14	1555	c.1531C>T	c.(1531-1533)Cca>Tca	p.P511S	ADAM2_ENST00000347580.4_Missense_Mutation_p.P648S|ADAM2_ENST00000521880.1_Missense_Mutation_p.P604S|ADAM2_ENST00000265708.4_Missense_Mutation_p.P667S			Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	667	Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AGTCTGGCTGGTATAGCTACA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	60	60			NA	NA	8		NA											NA				39606846		2203	4298	6501	SO:0001583	missense			U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755	2515	2515		ADAM metallopeptidase domain containing	198	protein-coding gene	gene with protein product	cancer/testis antigen 15	601533	fertilin beta	FTNB	NA	8702389, 9070941	Standard	NM_001464	NM_001278113	NA	Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000379853.2:c.1531C>T	8.37:g.39606846G>A	ENSP00000369182:p.Pro511Ser	NA	P78326|Q9UQQ8	37		.	.	.	.	.	.	.	.	.	.	G	1.936	-0.444814	0.04604	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.02032	5.13;4.49;5.37;5.3	1.93	-3.85	0.04243	.	.	.	.	.	T	0.01800	0.0057	L	0.40543	1.245	0.09310	N	1	B;B;P;B	0.38078	0.036;0.127;0.617;0.007	B;B;B;B	0.37144	0.013;0.045;0.242;0.006	T	0.43458	-0.9390	9	0.12430	T	0.62	.	6.3253	0.21240	0.0:0.5358:0.2579:0.2063	.	604;511;648;667	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	S	648;511;667;604	ENSP00000343854:P648S;ENSP00000369182:P511S;ENSP00000265708:P667S;ENSP00000429352:P604S	ENSP00000265708:P667S	P	-	1	0	ADAM2	39726003	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.825000	0.00747	-1.126000	0.02929	-0.300000	0.09419	CCA	ADAM2-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000376925.1		-	ENST00000379853.2	Missense_Mutation	SNP	8 : 39606846 - 39606846 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	352	67
PKD2L2	27039	broad.mit.edu	37	5	137261573	137261573	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137261573C>T	ENST00000508638.1	+	10	1378	c.1323C>T	c.(1321-1323)agC>agT	p.S441S	PKD2L2_ENST00000290431.5_Silent_p.S542S|PKD2L2_ENST00000502810.1_Silent_p.S520S|PKD2L2_ENST00000350250.4_Silent_p.S508S|PKD2L2_ENST00000508883.1_Silent_p.S542S	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	542						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCAAAGGCAGCGGAGATTTGG	0.348		NA											C	1	5e-04	NA	NA	2184	0.0017	0.9998	,	,	NA	2e-04	NA	NA	NA	5e-04	0.7784	EXOME	NA	NA	4e-04	SNP								NA				0													110	97	101			NA	NA	5		NA											NA				137261573		1822	4077	5899	SO:0001819	synonymous_variant			AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795	27039	27039		Voltage-gated ion channels / Transient receptor potential cation channels	9012	protein-coding gene	gene with protein product		604669			NA	10602361	Standard	NM_014386	NM_014386	NA	Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508638.1:c.1323C>T	5.37:g.137261573C>T		NA	A6NK98|Q9UNJ0	37	CCDS58971.1																																																																																			PKD2L2-006	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372526.2		+	ENST00000508638.1	Silent	SNP	5 : 137261573 - 137261573 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	197	16
CDH13	1012	broad.mit.edu	37	16	83704532	83704532	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:83704532C>T	ENST00000268613.10	+	10	1473	c.1380C>T	c.(1378-1380)atC>atT	p.I460I	CDH13_ENST00000566620.1_Silent_p.I413I|CDH13_ENST00000428848.3_Silent_p.I374I			P55290	CAD13_HUMAN	cadherin 13	413	Cadherin 3.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GCTTTGAAATCCACACCAACC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	145	145			NA	NA	16		NA											NA				83704532		1957	4143	6100	SO:0001819	synonymous_variant			U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945	1012	1012		Cadherins / Major cadherins	1753	protein-coding gene	gene with protein product	T-cadherin, H-cadherin (heart)	601364			NA	8673923, 9468307	Standard	NM_001257	NM_001257	NA	Approved	CDHH	uc010vns.2	P55290		ENST00000268613.10:c.1380C>T	16.37:g.83704532C>T		NA	Q6GTW4|Q8TBX3	37	CCDS58485.1																																																																																			CDH13-009	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432918.1		+	ENST00000268613.10	Silent	SNP	16 : 83704532 - 83704532 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	850	63
C3orf72	0	broad.mit.edu	37	3	138669383	138669383	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138669383C>T	ENST00000383165.3	+	3	628	c.497C>T	c.(496-498)gCt>gTt	p.A166V		NM_001040061.2	NP_001035150.1	Q6ZUU3	CC072_HUMAN		166										large_intestine(1)|lung(3)	4						CGGTGCTTGGCTAGCAAAGGG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	94	90			NA	NA	3		NA											NA				138669383		2030	4196	6226	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000383165.3:c.497C>T	3.37:g.138669383C>T	ENSP00000372651:p.Ala166Val	NA	A6NGX0	37	CCDS43155.1	.	.	.	.	.	.	.	.	.	.	C	6.740	0.505377	0.12822	.	.	ENSG00000206262	ENST00000383165	.	.	.	3.79	-3.56	0.04626	.	.	.	.	.	T	0.14098	0.0341	N	0.08118	0	0.09310	N	1	B	0.16802	0.019	B	0.15484	0.013	T	0.18713	-1.0328	8	0.87932	D	0	.	0.1327	0.00075	0.2483:0.2598:0.1865:0.3054	.	166	Q6ZUU3	CC072_HUMAN	V	166	.	ENSP00000372651:A166V	A	+	2	0	C3orf72	140152073	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.650000	0.05378	-1.077000	0.03121	-1.184000	0.01707	GCT	C3orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357986.1		+	ENST00000383165.3	Missense_Mutation	SNP	3 : 138669383 - 138669383 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	564	115
PDE6C	5146	broad.mit.edu	37	10	95396763	95396763	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:95396763G>T	ENST00000371447.3	+	11	1563	c.1425G>T	c.(1423-1425)gaG>gaT	p.E475D		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	475					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				AATTTCAAGAGAAGTTAAATG	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	77	76			NA	NA	10		NA											NA				95396763		2201	4299	6500	SO:0001583	missense			U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	5146	5146	3.1.4.17	Phosphodiesterases	8787	protein-coding gene	gene with protein product		600827			NA		Standard	NM_006204	NM_006204	NA	Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.1425G>T	10.37:g.95396763G>T	ENSP00000360502:p.Glu475Asp	NA	A6NCR6|Q5VY29	37	CCDS7429.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.904077	0.33628	.	.	ENSG00000095464	ENST00000371447	T	0.65549	-0.16	5.0	0.877	0.19145	.	0.047002	0.85682	D	0.000000	T	0.50394	0.1613	L	0.54965	1.715	0.48975	D	0.999737	B	0.15719	0.014	B	0.16289	0.015	T	0.41840	-0.9486	10	0.44086	T	0.13	.	6.0976	0.20028	0.2834:0.0:0.5933:0.1234	.	475	P51160	PDE6C_HUMAN	D	475	ENSP00000360502:E475D	ENSP00000360502:E475D	E	+	3	2	PDE6C	95386753	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	1.304000	0.33482	0.398000	0.25338	0.561000	0.74099	GAG	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049437.1		+	ENST00000371447.3	Missense_Mutation	SNP	10 : 95396763 - 95396763 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	137	19
IER5L	389792	broad.mit.edu	37	9	131940297	131940297	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131940297C>A	ENST00000372491.2	-	1	243	c.35G>T	c.(34-36)aGc>aTc	p.S12I	RP11-247A12.2_ENST00000372490.3_RNA	NM_203434.2	NP_982258.2	Q5T953	IER5L_HUMAN	immediate early response 5-like	12											NA		Ovarian(14;0.0448)|Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		CAGGGAGATGCTGATCAGGCT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	23	22			NA	NA	9		NA											NA				131940297		2164	4285	6449	SO:0001583	missense			BC013070	CCDS43888.1	9q34.11	2013-09-20			ENSG00000188483	ENSG00000188483	389792	389792			23679	protein-coding gene	gene with protein product					NA		Standard		NM_203434	NA	Approved	bA247A12.2	uc010myt.1	Q5T953	OTTHUMG00000020773	ENST00000372491.2:c.35G>T	9.37:g.131940297C>A	ENSP00000361569:p.Ser12Ile	NA	Q6P3E2	37	CCDS43888.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103186	0.56183	.	.	ENSG00000188483	ENST00000372491	T	0.18016	2.24	3.73	1.72	0.24424	.	0.224820	0.36101	U	0.002792	T	0.13286	0.0322	L	0.32530	0.975	0.30159	N	0.802383	P	0.45634	0.863	B	0.43783	0.431	T	0.06844	-1.0804	10	0.87932	D	0	-12.8614	6.8164	0.23833	0.0:0.6869:0.1959:0.1172	.	12	Q5T953	IER5L_HUMAN	I	12	ENSP00000361569:S12I	ENSP00000361569:S12I	S	-	2	0	IER5L	130980118	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.473000	0.53122	0.779000	0.33543	0.298000	0.19748	AGC	IER5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054556.2		-	ENST00000372491.2	Missense_Mutation	SNP	9 : 131940297 - 131940297 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	72	16
NLRP3	114548	broad.mit.edu	37	1	247582145	247582145	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247582145C>A	ENST00000336119.3	+	1	795	c.49C>A	c.(49-51)Ctg>Atg	p.L17M	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.L17M|NLRP3_ENST00000366497.2_Missense_Mutation_p.L17M|NLRP3_ENST00000391828.3_Missense_Mutation_p.L17M|NLRP3_ENST00000348069.2_Missense_Mutation_p.L17M|NLRP3_ENST00000391827.2_Missense_Mutation_p.L17M	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	17	DAPIN.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CCTGGAGGACCTGGAGGATGT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	46	46			NA	NA	1		NA											NA				247582145		2203	4300	6503	SO:0001583	missense			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711	114548	114548		Nucleotide-binding domain and leucine rich repeat containing	16400	protein-coding gene	gene with protein product	Cryopyrin, nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3	606416	cold autoinflammatory syndrome 1	C1orf7, CIAS1	NA	10741953	Standard	NM_004895	NM_183395	NA	Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.49C>A	1.37:g.247582145C>A	ENSP00000337383:p.Leu17Met	NA	B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631923	0.46944	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	4.49	1.59	0.23543	Pyrin (2);DEATH-like (2);	0.232835	0.22666	N	0.057123	T	0.80639	0.4661	M	0.88241	2.94	0.26695	N	0.971287	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.994;1.0;0.999;1.0	T	0.70124	-0.4958	10	0.87932	D	0	.	6.5523	0.22442	0.0:0.6946:0.0:0.3054	.	17;17;17;17;17	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	M	17	ENSP00000375704:L17M;ENSP00000355453:L17M;ENSP00000337383:L17M;ENSP00000294752:L17M;ENSP00000355452:L17M;ENSP00000375703:L17M	ENSP00000337383:L17M	L	+	1	2	NLRP3	245648768	0.045000	0.20229	0.519000	0.27824	0.728000	0.41692	0.354000	0.20146	0.254000	0.21573	-0.258000	0.10820	CTG	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097740.1		+	ENST00000336119.3	Missense_Mutation	SNP	1 : 247582145 - 247582145 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	290	53
KCNMB4	27345	broad.mit.edu	37	12	70760741	70760741	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70760741G>A	ENST00000258111.4	+	1	686	c.227G>A	c.(226-228)tGc>tAc	p.C76Y		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	76					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GGCGCCGACTGCAGGGGCACC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	62	63			NA	NA	12		NA											NA				70760741		2203	4300	6503	SO:0001583	missense			AF207992	CCDS8997.1	12q15	2006-06-10			ENSG00000135643	ENSG00000135643	27345	27345		Potassium channels	6289	protein-coding gene	gene with protein product		605223			NA	10692449, 10828459	Standard	NM_014505	NM_014505	NA	Approved		uc001svx.3	Q86W47	OTTHUMG00000167586	ENST00000258111.4:c.227G>A	12.37:g.70760741G>A	ENSP00000258111:p.Cys76Tyr	NA	Q8IVR3|Q9NPA4|Q9P0G5	37	CCDS8997.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994370	0.74703	.	.	ENSG00000135643	ENST00000258111	T	0.13538	2.58	3.37	2.44	0.29823	.	0.055295	0.64402	D	0.000001	T	0.26048	0.0635	M	0.74647	2.275	0.49130	D	0.999751	D	0.55385	0.971	P	0.52109	0.69	T	0.03910	-1.0993	10	0.66056	D	0.02	-5.2443	11.7488	0.51837	0.0:0.0:0.8218:0.1782	.	76	Q86W47	KCMB4_HUMAN	Y	76	ENSP00000258111:C76Y	ENSP00000258111:C76Y	C	+	2	0	KCNMB4	69047008	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	8.311000	0.89973	0.472000	0.27344	0.491000	0.48974	TGC	KCNMB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395208.1		+	ENST00000258111.4	Missense_Mutation	SNP	12 : 70760741 - 70760741 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	554	106
PRLR	5618	broad.mit.edu	37	5	35065420	35065420	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35065420G>T	ENST00000382002.5	-	10	2066	c.1640C>A	c.(1639-1641)gCc>gAc	p.A547D	PRLR_ENST00000397391.3_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.A446D|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.A446D|PRLR_ENST00000310101.5_3'UTR|PRLR_ENST00000348262.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	547					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GGACACCTTGGCATACTCCTT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	87	90			NA	NA	5		NA											NA				35065420		2203	4300	6503	SO:0001583	missense				CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494	5618	5618			9446	protein-coding gene	gene with protein product		176761			NA		Standard		NM_001204315	NA	Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.1640C>A	5.37:g.35065420G>T	ENSP00000371432:p.Ala547Asp	NA	B2R882|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	37	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944679	0.34283	.	.	ENSG00000113494	ENST00000342362;ENST00000382002;ENST00000511486	D;D;D	0.89343	-2.5;-1.57;-2.5	5.77	4.9	0.64082	.	0.246910	0.46145	D	0.000310	D	0.92195	0.7525	M	0.74881	2.28	0.26422	N	0.976087	P;D	0.56035	0.956;0.974	P;P	0.54590	0.575;0.756	D	0.87310	0.2311	10	0.72032	D	0.01	-4.9035	14.5909	0.68365	0.0697:0.0:0.9303:0.0	.	547;446	P16471;P16471-2	PRLR_HUMAN;.	D	446;547;446	ENSP00000339213:A446D;ENSP00000371432:A547D;ENSP00000422556:A446D	ENSP00000339213:A446D	A	-	2	0	PRLR	35101177	0.614000	0.27017	0.307000	0.25127	0.035000	0.12851	4.279000	0.58953	1.444000	0.47605	0.655000	0.94253	GCC	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207575.2		-	ENST00000382002.5	Missense_Mutation	SNP	5 : 35065420 - 35065420 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	45
KIAA0368	23392	broad.mit.edu	37	9	114134091	114134091	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114134091C>T	ENST00000338205.5	-	42	4766	c.4547G>A	c.(4546-4548)cGa>cAa	p.R1516Q	KIAA0368_ENST00000259335.4_Missense_Mutation_p.R1694Q|KIAA0368_ENST00000374378.3_5'UTR					KIAA0368	NA										NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CAGGTATAATCGAATGCCACC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	67	68			NA	NA	9		NA											NA				114134091		1828	4076	5904	SO:0001583	missense			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813	23392	23392			29020	protein-coding gene	gene with protein product	ECM29 homolog (S. cerevisiae)				NA	9205841, 15496406, 20682791	Standard	NM_014686	NM_001080398	NA	Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.4547G>A	9.37:g.114134091C>T	ENSP00000339889:p.Arg1516Gln	NA		37		.	.	.	.	.	.	.	.	.	.	C	34	5.312779	0.95655	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.50277	0.75	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.64461	0.2600	M	0.78049	2.395	0.80722	D	1	D	0.56521	0.976	P	0.52514	0.701	T	0.67348	-0.5693	10	0.56958	D	0.05	.	19.9064	0.97008	0.0:1.0:0.0:0.0	.	991	B3KXF2	.	Q	1516;1694;991	ENSP00000259335:R1694Q	ENSP00000259335:R1694Q	R	-	2	0	KIAA0368	113173912	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.487000	0.81328	2.693000	0.91896	0.655000	0.94253	CGA	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000053637.2		-	ENST00000338205.5	Missense_Mutation	SNP	9 : 114134091 - 114134091 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	405	74
KIFAP3	22920	broad.mit.edu	37	1	169941689	169941689	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169941689G>A	ENST00000367765.1	-	17	3329	c.1828C>T	c.(1828-1830)Cga>Tga	p.R610*	KIFAP3_ENST00000540905.1_Nonsense_Mutation_p.R352*|KIFAP3_ENST00000367767.1_Nonsense_Mutation_p.R606*|KIFAP3_ENST00000361580.2_Nonsense_Mutation_p.R650*|KIFAP3_ENST00000538366.1_Nonsense_Mutation_p.R572*	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	650					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAGACCTTTCGGATTTCATTA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	56	56			NA	NA	1		NA											NA				169941689		2198	4284	6482	SO:0001587	stop_gained			U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945	22920	22920			17060	protein-coding gene	gene with protein product	Smg GDS	601836			NA	8900189	Standard	NM_014970	NM_014970	NA	Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000367765.1:c.1828C>T	1.37:g.169941689G>A	ENSP00000356739:p.Arg610*	NA	B2RDL1|Q8NHU7|Q9H416	37	CCDS55660.1	.	.	.	.	.	.	.	.	.	.	G	40	8.162878	0.98683	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000540905;ENST00000538366	.	.	.	5.22	2.1	0.27182	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.5189	13.7898	0.63133	0.0:0.0:0.599:0.401	.	.	.	.	X	650;610;606;352;572	.	.	R	-	1	2	KIFAP3	168208313	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	2.632000	0.46511	0.212000	0.20703	0.555000	0.69702	CGA	KIFAP3-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087569.1		-	ENST00000367765.1	Nonsense_Mutation	SNP	1 : 169941689 - 169941689 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	64	7
ECEL1	9427	broad.mit.edu	37	2	233346501	233346501	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233346501C>T	ENST00000304546.1	-	13	2065	c.1855G>A	c.(1855-1857)Gac>Aac	p.D619N	ECEL1_ENST00000409941.1_Missense_Mutation_p.D617N	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	619					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCCCAGTCGTCGTAGCCGTGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	76	78			NA	NA	2		NA											NA				233346501		2203	4300	6503	SO:0001583	missense			Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551	9427	9427			3147	protein-coding gene	gene with protein product	damage induced neuronal endopeptidase	605896			NA	9931490, 11352565	Standard	NM_004826	NM_004826	NA	Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1855G>A	2.37:g.233346501C>T	ENSP00000302051:p.Asp619Asn	NA	Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	37	CCDS2493.1	.	.	.	.	.	.	.	.	.	.	C	34	5.304761	0.95601	.	.	ENSG00000171551	ENST00000411860;ENST00000304546;ENST00000409941	D;D;D	0.89939	-2.59;-2.59;-2.59	5.54	5.54	0.83059	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.049237	0.85682	D	0.000000	D	0.97216	0.9090	H	0.98818	4.34	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.996	D	0.98643	1.0676	10	0.87932	D	0	-5.4806	19.5428	0.95281	0.0:1.0:0.0:0.0	.	617;619	O95672-2;O95672	.;ECEL1_HUMAN	N	34;619;617	ENSP00000412683:D34N;ENSP00000302051:D619N;ENSP00000386333:D617N	ENSP00000302051:D619N	D	-	1	0	ECEL1	233054745	1.000000	0.71417	0.921000	0.36526	0.925000	0.55904	7.704000	0.84595	2.615000	0.88500	0.558000	0.71614	GAC	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257039.2		-	ENST00000304546.1	Missense_Mutation	SNP	2 : 233346501 - 233346501 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	654	151
EPX	8288	broad.mit.edu	37	17	56270749	56270749	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56270749G>A	ENST00000225371.5	+	3	298	c.188G>A	c.(187-189)cGc>cAc	p.R63H		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	63					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	p.R63H(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CAGCGGCTTCGCAGCGGTTCA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											95	95	95			NA	NA	17		NA											NA				56270749		2203	4300	6503	SO:0001583	missense			M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	8288	8288	1.11.1.7		3423	protein-coding gene	gene with protein product		131399			NA	2550461, 2541222	Standard	NM_000502	NM_000502	NA	Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.188G>A	17.37:g.56270749G>A	ENSP00000225371:p.Arg63His	NA	Q4TVP3	37	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.513668	0.27123	.	.	ENSG00000121053	ENST00000225371	T	0.71103	-0.54	4.86	-6.89	0.01660	.	1.143690	0.06082	N	0.662044	T	0.59321	0.2185	L	0.61387	1.9	0.09310	N	1	B	0.16166	0.016	B	0.09377	0.004	T	0.50915	-0.8771	10	0.52906	T	0.07	-2.2677	3.4732	0.07575	0.4946:0.108:0.2882:0.1092	.	63	P11678	PERE_HUMAN	H	63	ENSP00000225371:R63H	ENSP00000225371:R63H	R	+	2	0	EPX	53625748	0.000000	0.05858	0.015000	0.15790	0.419000	0.31324	-0.761000	0.04751	-1.086000	0.03084	0.549000	0.68633	CGC	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443367.1		+	ENST00000225371.5	Missense_Mutation	SNP	17 : 56270749 - 56270749 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1023	128
DSE	29940	broad.mit.edu	37	6	116747899	116747899	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116747899C>T	ENST00000331677.3	+	4	1023	c.579C>T	c.(577-579)taC>taT	p.Y193Y	DSE_ENST00000537543.1_Silent_p.Y212Y|DSE_ENST00000452085.3_Silent_p.Y193Y|DSE_ENST00000359564.2_Silent_p.Y193Y			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	193					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		AAACTTCATACAGGAGAGGAT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	95	99			NA	NA	6		NA											NA				116747899		2203	4300	6503	SO:0001819	synonymous_variant			AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	29940	29940	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	squamous cell carcinoma antigen recognized by T cells 2	SART2	NA	11920522, 16505484	Standard	NM_013352	NM_001080976	NA	Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.579C>T	6.37:g.116747899C>T		NA	Q5R3K6	37	CCDS5107.1																																																																																			DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041940.2		+	ENST00000331677.3	Silent	SNP	6 : 116747899 - 116747899 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	554	111
LCN9	392399	broad.mit.edu	37	9	138557746	138557746	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138557746C>T	ENST00000277526.3	+	6	515	c.515C>T	c.(514-516)cCt>cTt	p.P172L	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	172						extracellular region	pheromone binding|transporter activity			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		CCGCCCAGGCCTCCCATGCGT	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	23	22			NA	NA	9		NA											NA				138557746		1928	4125	6053	SO:0001583	missense			AY301270	CCDS56593.1	9q34	2011-11-14			ENSG00000148386	ENSG00000148386	392399	392399		Lipocalins	17442	protein-coding gene	gene with protein product	MUP-like lipocalin, epididymal-specific lipocalin-9	612903			NA	15363845	Standard	NM_001001676	NM_001001676	NA	Approved		uc004cgk.2	Q8WX39	OTTHUMG00000020916	ENST00000277526.3:c.515C>T	9.37:g.138557746C>T	ENSP00000277526:p.Pro172Leu	NA	C9J5F0|Q6JVE7	37	CCDS56593.1	.	.	.	.	.	.	.	.	.	.	C	7.838	0.721389	0.15372	.	.	ENSG00000148386	ENST00000277526	T	0.20200	2.09	2.68	-1.14	0.09741	.	.	.	.	.	T	0.07324	0.0185	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.39800	-0.9596	9	0.06891	T	0.86	.	4.6366	0.12527	0.0:0.4144:0.4294:0.1562	.	172	Q8WX39	LCN9_HUMAN	L	172	ENSP00000277526:P172L	ENSP00000277526:P186L	P	+	2	0	LCN9	137697567	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.542000	0.06091	-0.431000	0.07307	-0.802000	0.03209	CCT	LCN9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410711.1		+	ENST00000277526.3	Missense_Mutation	SNP	9 : 138557746 - 138557746 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	117	8
DNAJB5	25822	broad.mit.edu	37	9	34993428	34993428	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34993428G>A	ENST00000541010.1	+	1	3210	c.198G>A	c.(196-198)caG>caA	p.Q66Q	DNAJB5_ENST00000545841.1_Silent_p.Q66Q|DNAJB5_ENST00000312316.5_Silent_p.Q66Q|DNAJB5_ENST00000453597.3_Silent_p.Q180Q|DNAJB5_ENST00000454002.2_Silent_p.Q138Q|DNAJB5_ENST00000335998.3_Silent_p.Q100Q			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	66	J.				protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			TGTATGACCAGTATGGGGAGG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	91	90			NA	NA	9		NA											NA				34993428		2203	4300	6503	SO:0001819	synonymous_variant			AF088982	CCDS35007.1, CCDS47959.1, CCDS47960.1, CCDS47960.2	9p	2011-09-02			ENSG00000137094	ENSG00000137094	25822	25822		Heat shock proteins / DNAJ (HSP40)	14887	protein-coding gene	gene with protein product		611328			NA	10570961, 11147971	Standard		NM_001135004	NA	Approved	Hsc40	uc003zvs.4	O75953	OTTHUMG00000019840	ENST00000541010.1:c.198G>A	9.37:g.34993428G>A		NA	B3KN14|Q5T656|Q8TDR7|Q96EM4	37	CCDS35007.1																																																																																			DNAJB5-008	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401397.1		+	ENST00000541010.1	Silent	SNP	9 : 34993428 - 34993428 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	609	117
LIF	3976	broad.mit.edu	37	22	30640766	30640766	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30640766G>A	ENST00000249075.3	-	2	331	c.176C>T	c.(175-177)gCc>gTc	p.A59V	LIF_ENST00000403987.3_Intron	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	leukemia inhibitory factor	59					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			GAGGGCATTGGCACTGCCATT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	144	152			NA	NA	22		NA											NA				30640766		2203	4300	6503	SO:0001583	missense				CCDS13872.1, CCDS58799.1	22q12.2	2012-02-09	2012-02-09		ENSG00000128342	ENSG00000128342	3976	3976			6596	protein-coding gene	gene with protein product	differentiation inhibitory activity, differentiation-inducing factor, hepatocyte-stimulating factor III, cholinergic differentiation factor, human interleukin in DA cells	159540			NA	1714745, 8058719	Standard	NM_002309	NM_002309	NA	Approved	CDF, DIA, HILDA	uc003agz.3	P15018	OTTHUMG00000150910	ENST00000249075.3:c.176C>T	22.37:g.30640766G>A	ENSP00000249075:p.Ala59Val	NA	B2RCW7|Q52LZ2	37	CCDS13872.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735491	0.89482	.	.	ENSG00000128342	ENST00000249075	T	0.80393	-1.37	4.56	4.56	0.56223	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.56097	D	0.000031	D	0.88760	0.6524	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90180	0.4242	10	0.87932	D	0	-38.7843	14.432	0.67257	0.0:0.0:1.0:0.0	.	59	P15018	LIF_HUMAN	V	59	ENSP00000249075:A59V	ENSP00000249075:A59V	A	-	2	0	LIF	28970766	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.574000	0.53863	2.226000	0.72624	0.563000	0.77884	GCC	LIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320508.1		-	ENST00000249075.3	Missense_Mutation	SNP	22 : 30640766 - 30640766 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	327	64
PKNOX2	63876	broad.mit.edu	37	11	125267823	125267823	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125267823C>T	ENST00000298282.9	+	7	724	c.453C>T	c.(451-453)gtC>gtT	p.V151V	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Silent_p.V87V	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	151						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		TGGAGAAAGTCAATGAACTCT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	120	117			NA	NA	11		NA											NA				125267823		1984	4186	6170	SO:0001819	synonymous_variant			AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495	63876	63876		Homeoboxes / TALE class	16714	protein-coding gene	gene with protein product		613066			NA	11549286	Standard		NM_022062	NA	Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.453C>T	11.37:g.125267823C>T		NA	Q63HL6|Q86XD1	37	CCDS41730.1																																																																																			PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386866.3		+	ENST00000298282.9	Silent	SNP	11 : 125267823 - 125267823 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	488	102
MCF2L	23263	broad.mit.edu	37	13	113740496	113740496	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113740496G>T	ENST00000397030.1	+	21	2442	c.2405G>T	c.(2404-2406)aGc>aTc	p.S802I	MCF2L_ENST00000535094.2_Missense_Mutation_p.S769I|MCF2L_ENST00000375597.4_Missense_Mutation_p.S767I|MCF2L_ENST00000434480.2_Missense_Mutation_p.S775I|MCF2L_ENST00000442652.2_Missense_Mutation_p.S799I|MCF2L_ENST00000421756.1_Missense_Mutation_p.S773I|MCF2L_ENST00000375608.3_Missense_Mutation_p.S799I|MCF2L_ENST00000375604.2_Missense_Mutation_p.S826I|MCF2L_ENST00000375601.3_Missense_Mutation_p.S773I|MCF2L_ENST00000423482.2_Missense_Mutation_p.S767I			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	799	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GAGGCGCTGAGCTCCATCCTG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	66	71			NA	NA	13		NA											NA				113740496		2203	4300	6503	SO:0001583	missense			AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217	23263	23263		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	14576	protein-coding gene	gene with protein product		609499			NA	9205841	Standard		NM_001112732	NA	Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000397030.1:c.2405G>T	13.37:g.113740496G>T	ENSP00000380225:p.Ser802Ile	NA	A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DIL6|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.60|12.60	1.986538|1.986538	0.35036|0.35036	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000397017|ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749	.|T;T;T;T;T;T;T;T;T;T	.|0.64260	.|-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	4.67|4.67	3.8|3.8	0.43715|0.43715	.|Dbl homology (DH) domain (5);	.|0.220796	.|0.45361	.|D	.|0.000373	T|T	0.57388|0.57388	0.2050|0.2050	L|L	0.31294|0.31294	0.92|0.92	0.37373|0.37373	D|D	0.911736|0.911736	.|D;P;D;D;P;D	.|0.63046	.|0.972;0.933;0.992;0.985;0.817;0.978	.|B;B;P;P;B;P	.|0.54629	.|0.426;0.426;0.644;0.757;0.426;0.679	T|T	0.61855|0.61855	-0.6977|-0.6977	5|10	.|0.45353	.|T	.|0.12	.|.	7.5177|7.5177	0.27610|0.27610	0.1088:0.4278:0.4634:0.0|0.1088:0.4278:0.4634:0.0	.|.	.|767;769;826;731;767;799	.|E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068	.|.;.;.;.;.;MCF2L_HUMAN	D|I	429|799;799;826;802;769;773;773;775;767;767;610	.|ENSP00000364758:S799I;ENSP00000401422:S799I;ENSP00000364754:S826I;ENSP00000380225:S802I;ENSP00000440374:S769I;ENSP00000397285:S773I;ENSP00000364751:S773I;ENSP00000407722:S775I;ENSP00000405639:S767I;ENSP00000364747:S767I	.|ENSP00000364747:S767I	E|S	+|+	3|2	2|0	MCF2L|MCF2L	112788497|112788497	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.240000|0.240000	0.25518|0.25518	4.451000|4.451000	0.60047|0.60047	2.157000|2.157000	0.67596|0.67596	0.196000|0.196000	0.17591|0.17591	GAG|AGC	MCF2L-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000045850.3		+	ENST00000397030.1	Missense_Mutation	SNP	13 : 113740496 - 113740496 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	252	51
MEGF10	84466	broad.mit.edu	37	5	126781188	126781188	+	Missense_Mutation	SNP	G	G	A	rs138372925		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:126781188G>A	ENST00000274473.6	+	21	2798	c.2531G>A	c.(2530-2532)cGa>cAa	p.R844Q	MEGF10_ENST00000510828.1_Intron|MEGF10_ENST00000503335.2_Missense_Mutation_p.R844Q	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	844	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AGCTTAAGCCGAACCAGTACT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	GLN/ARG	0,4406		0,0,2203	160	153	156		2531	4.8	1	5	dbSNP_134	156	1,8599	1.2+/-3.3	0,1,4299	no	missense	MEGF10	NM_032446.2	43	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	844/1141	126781188	1,13005	2203	4300	6503	SO:0001583	missense			AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794	84466	84466			29634	protein-coding gene	gene with protein product		612453			NA	11347906	Standard	NM_032446	NM_032446	NA	Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.2531G>A	5.37:g.126781188G>A	ENSP00000274473:p.Arg844Gln	NA	Q68DE5|Q8WUL3	37	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928558	0.52759	0.0	1.16E-4	ENSG00000145794	ENST00000503335;ENST00000274473	T;T	0.56611	0.45;0.45	5.68	4.8	0.61643	.	0.129752	0.34314	N	0.004080	T	0.38453	0.1041	L	0.27053	0.805	0.36034	D	0.839609	B	0.18610	0.029	B	0.06405	0.002	T	0.36456	-0.9747	10	0.18276	T	0.48	-14.8769	14.9152	0.70792	0.0699:0.0:0.9301:0.0	.	844	Q96KG7	MEG10_HUMAN	Q	844	ENSP00000423354:R844Q;ENSP00000274473:R844Q	ENSP00000274473:R844Q	R	+	2	0	MEGF10	126809087	1.000000	0.71417	0.997000	0.53966	0.761000	0.43186	4.733000	0.62036	2.681000	0.91329	0.563000	0.77884	CGA	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250973.2		+	ENST00000274473.6	Missense_Mutation	SNP	5 : 126781188 - 126781188 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	497	22
C5orf42	65250	broad.mit.edu	37	5	37201716	37201716	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37201716G>T	ENST00000508244.1	-	18	3577	c.3484C>A	c.(3484-3486)Ccc>Acc	p.P1162T	C5orf42_ENST00000274258.7_Missense_Mutation_p.P43T|C5orf42_ENST00000425232.2_Missense_Mutation_p.P1162T			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1162										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GCTGGCTGGGGACAGTACAAT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	89	89			NA	NA	5		NA											NA				37201716		2203	4300	6503	SO:0001583	missense				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603	65250	65250			25801	protein-coding gene	gene with protein product		614571			NA	22264561	Standard	NM_023073	NM_023073	NA	Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.3484C>A	5.37:g.37201716G>T	ENSP00000421690:p.Pro1162Thr	NA		37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675047	0.88445	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.78003	-0.98;-0.98;-1.14;-1.12	5.48	4.6	0.57074	.	0.165071	0.29185	N	0.012897	T	0.81211	0.4775	L	0.29908	0.895	0.46654	D	0.999146	D;D	0.89917	0.999;1.0	D;D	0.71414	0.973;0.973	D	0.83379	0.0011	10	0.87932	D	0	.	14.1668	0.65483	0.0724:0.0:0.9276:0.0	.	1162;43	E9PH94;Q9H799	.;CE042_HUMAN	T	1162;1162;43;210;43	ENSP00000421690:P1162T;ENSP00000389014:P1162T;ENSP00000274258:P43T;ENSP00000424223:P210T	ENSP00000274258:P43T	P	-	1	0	C5orf42	37237473	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.992000	0.93519	1.315000	0.45114	0.313000	0.20887	CCC	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360806.1		-	ENST00000508244.1	Missense_Mutation	SNP	5 : 37201716 - 37201716 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	489	92
PCDH20	64881	broad.mit.edu	37	13	61987229	61987229	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:61987229C>A	ENST00000409186.1	-	5	3108	c.1003G>T	c.(1003-1005)Gtg>Ttg	p.V335L	PCDH20_ENST00000409204.4_Missense_Mutation_p.V335L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	308	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGGGTGCCCACTGTAGCATTC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	93	92			NA	NA	13		NA											NA				61987229		2203	4300	6503	SO:0001583	missense			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991	64881	64881		Cadherins / Protocadherins : Non-clustered	14257	protein-coding gene	gene with protein product		614449			NA		Standard	NM_022843	NM_022843	NA	Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1003G>T	13.37:g.61987229C>A	ENSP00000386653:p.Val335Leu	NA	B1AQU2|Q8NDN4|Q9NRT9	37	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	C	7.658	0.684406	0.14907	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.59502	0.26;0.26	5.76	5.76	0.90799	.	0.114954	0.38663	N	0.001605	T	0.39306	0.1073	L	0.28115	0.83	0.30609	N	0.759682	B	0.09022	0.002	B	0.14578	0.011	T	0.29882	-0.9997	10	0.19147	T	0.46	.	6.7269	0.23361	0.0:0.686:0.1652:0.1488	.	335	A8K1K9	.	L	335;335;81	ENSP00000387250:V335L;ENSP00000386653:V335L	ENSP00000351500:V81L	V	-	1	0	PCDH20	60885230	0.990000	0.36364	1.000000	0.80357	0.648000	0.38561	2.585000	0.46111	2.732000	0.93576	0.655000	0.94253	GTG	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333054.2		-	ENST00000409186.1	Missense_Mutation	SNP	13 : 61987229 - 61987229 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	509	85
LCE1C	353133	broad.mit.edu	37	1	152777708	152777708	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152777708G>A	ENST00000607093.1	-	1	246	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C	LCE1C_ENST00000368768.1_Missense_Mutation_p.R83C			Q5T751	LCE1C_HUMAN	late cornified envelope 1C	83	Gly-rich.				keratinization					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGGGACCTACGGCGCCTGTGG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	36	33			NA	NA	1		NA											NA				152777708		2201	4286	6487	SO:0001583	missense				CCDS1026.1	1q21.3	2008-02-05			ENSG00000197084	ENSG00000197084	353133	353133		Late cornified envelopes	29464	protein-coding gene	gene with protein product		612605			NA	11698679	Standard	NM_178351	NM_001276331	NA	Approved	LEP3	uc001fap.1	Q5T751	OTTHUMG00000012445	ENST00000607093.1:c.247C>T	1.37:g.152777708G>A	ENSP00000475270:p.Arg83Cys	NA		37	CCDS1026.1	.	.	.	.	.	.	.	.	.	.	G	0.227	-1.023866	0.02061	.	.	ENSG00000197084	ENST00000368768	T	0.04406	3.63	3.16	1.01	0.19927	.	0.314770	0.14807	N	0.297281	T	0.01976	0.0062	M	0.66939	2.045	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.39099	-0.9630	10	0.87932	D	0	.	3.3949	0.07302	0.1428:0.0:0.607:0.2503	.	83	Q5T751	LCE1C_HUMAN	C	83	ENSP00000357757:R83C	ENSP00000357757:R83C	R	-	1	0	LCE1C	151044332	0.048000	0.20356	0.197000	0.23402	0.030000	0.12068	1.863000	0.39459	0.659000	0.30945	-0.137000	0.14449	CGT	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034658.2		-	ENST00000607093.1	Missense_Mutation	SNP	1 : 152777708 - 152777708 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	657	101
POLG	5428	broad.mit.edu	37	15	89865049	89865049	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89865049G>A	ENST00000268124.5	-	16	2849	c.2516C>T	c.(2515-2517)gCc>gTc	p.A839V	POLG_ENST00000442287.2_Missense_Mutation_p.A839V	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	839					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GGGCAGGATGGCCCCATAGAG	0.622		NA						DNA polymerases (catalytic subunits)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(73;648 1203 11348 18386 27782)							NA				0													59	59	59			NA	NA	15		NA											NA				89865049		2200	4299	6499	SO:0001583	missense			X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521	5428	5428		DNA polymerases	9179	protein-coding gene	gene with protein product		174763			NA	9465903	Standard	NM_002693	NM_002693	NA	Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.2516C>T	15.37:g.89865049G>A	ENSP00000268124:p.Ala839Val	NA	Q8NFM2|Q92515	37	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.938706	0.92526	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.98362	-4.89;-4.89	5.37	5.37	0.77165	DNA-directed DNA polymerase, family A, palm domain (1);	0.103397	0.64402	D	0.000003	D	0.97993	0.9339	L	0.57536	1.79	0.80722	D	1	D	0.63046	0.992	P	0.61477	0.889	D	0.97162	0.9838	10	0.13108	T	0.6	-20.404	14.6815	0.69020	0.0:0.145:0.855:0.0	.	839	P54098	DPOG1_HUMAN	V	839	ENSP00000268124:A839V;ENSP00000399851:A839V	ENSP00000268124:A839V	A	-	2	0	POLG	87666053	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.478000	0.81082	2.529000	0.85273	0.561000	0.74099	GCC	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000312854.2		-	ENST00000268124.5	Missense_Mutation	SNP	15 : 89865049 - 89865049 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	438	79
ARMCX2	9823	broad.mit.edu	37	X	100911224	100911224	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100911224C>T	ENST00000328766.5	-	5	1804	c.1351G>A	c.(1351-1353)Gcc>Acc	p.A451T	ARMCX2_ENST00000356824.4_Missense_Mutation_p.A451T|ARMCX2_ENST00000330154.2_Missense_Mutation_p.A451T	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	451						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TTATTCATGGCCATTAAGGCT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	122	124			NA	NA	X		NA											NA				100911224		2203	4300	6503	SO:0001583	missense			AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867	9823	9823		Armadillo repeat containing	16869	protein-coding gene	gene with protein product		300363			NA	9628581, 11162520, 16221301, 22569362	Standard	NM_014782	XM_005278109	NA	Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.1351G>A	X.37:g.100911224C>T	ENSP00000331662:p.Ala451Thr	NA	O60267|Q5H9D9	37	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945747	0.53079	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	T;T;T	0.58060	0.36;0.36;0.36	3.87	3.87	0.44632	Armadillo-like helical (1);Armadillo-type fold (1);	0.110754	0.64402	D	0.000008	T	0.54431	0.1858	L	0.48362	1.52	0.43798	D	0.996347	P	0.46457	0.878	P	0.54210	0.745	T	0.47114	-0.9142	10	0.25106	T	0.35	-2.7442	10.2206	0.43194	0.0:1.0:0.0:0.0	.	451	Q7L311	ARMX2_HUMAN	T	451	ENSP00000331662:A451T;ENSP00000328631:A451T;ENSP00000349281:A451T	ENSP00000331662:A451T	A	-	1	0	ARMCX2	100797880	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.075000	0.41538	2.167000	0.68274	0.422000	0.28245	GCC	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057586.1		-	ENST00000328766.5	Missense_Mutation	SNP	X : 100911224 - 100911224 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	423	139
STEAP3	55240	broad.mit.edu	37	2	120005630	120005630	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120005630C>T	ENST00000354888.5	+	4	1372	c.868C>T	c.(868-870)Cgc>Tgc	p.R290C	STEAP3_ENST00000393106.2_Missense_Mutation_p.R290C|STEAP3_ENST00000393108.2_Missense_Mutation_p.R290C|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000425223.2_Missense_Mutation_p.R290C|STEAP3_ENST00000393110.2_Missense_Mutation_p.R300C|STEAP3_ENST00000450943.2_Missense_Mutation_p.R290C|STEAP3_ENST00000409811.1_Missense_Mutation_p.R290C|STEAP3_ENST00000393107.2_Missense_Mutation_p.R290C	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	290	Ferric oxidoreductase.				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CAAGTACCAGCGCTTCCCCGA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	32	31	31		868,868,898	3.6	0.8	2		31	1,8595		0,1,4297	no	missense,missense,missense	STEAP3	NM_001008410.1,NM_018234.2,NM_182915.2	180,180,180	0,1,6500	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	290/489,290/489,300/499	120005630	1,13001	2203	4298	6501	SO:0001583	missense			AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107	55240	55240			24592	protein-coding gene	gene with protein product		609671			NA	12606722	Standard	NM_018234	NM_182915	NA	Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.868C>T	2.37:g.120005630C>T	ENSP00000346961:p.Arg290Cys	NA	A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	37	CCDS2125.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276574	0.80580	0.0	1.16E-4	ENSG00000115107	ENST00000393108;ENST00000354888;ENST00000450943;ENST00000393110;ENST00000393106;ENST00000409811;ENST00000393107;ENST00000425223	D;D;D;D;D;D;D;D	0.91521	-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86	4.49	3.61	0.41365	Flavoprotein transmembrane component (1);	0.000000	0.85682	D	0.000000	D	0.94525	0.8237	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.993	D	0.94122	0.7380	9	.	.	.	-30.3131	13.0605	0.59003	0.1616:0.8383:0.0:0.0	.	290;300;290	B8ZZX6;Q658P3-2;Q658P3	.;.;STEA3_HUMAN	C	290;290;290;300;290;290;290;290	ENSP00000376820:R290C;ENSP00000346961:R290C;ENSP00000396873:R290C;ENSP00000376822:R300C;ENSP00000376818:R290C;ENSP00000386510:R290C;ENSP00000376819:R290C;ENSP00000396214:R290C	.	R	+	1	0	STEAP3	119722100	1.000000	0.71417	0.836000	0.33094	0.963000	0.63663	4.725000	0.61979	1.107000	0.41642	0.462000	0.41574	CGC	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254193.1		+	ENST00000354888.5	Missense_Mutation	SNP	2 : 120005630 - 120005630 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	330	11
MICALL1	85377	broad.mit.edu	37	22	38308422	38308422	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38308422C>A	ENST00000215957.6	+	3	386	c.260C>A	c.(259-261)tCc>tAc	p.S87Y		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	87	CH.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					GACATGGTCTCCATGAGCGTC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	87	92			NA	NA	22		NA											NA				38308422		2203	4300	6503	SO:0001583	missense			BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139	85377	85377			29804	protein-coding gene	gene with protein product	molecule interacting with Rab13				NA	11258795, 12110185	Standard	NM_033386	NM_033386	NA	Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.260C>A	22.37:g.38308422C>A	ENSP00000215957:p.Ser87Tyr	NA	Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	37	CCDS13961.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000656	0.74818	.	.	ENSG00000100139	ENST00000445494;ENST00000215957	T;D	0.94184	-0.82;-3.37	4.81	3.78	0.43462	Calponin homology domain (5);	0.462106	0.18277	N	0.146127	D	0.95529	0.8547	L	0.58302	1.8	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.95483	0.8562	10	0.59425	D	0.04	.	15.5965	0.76587	0.0:0.8619:0.138:0.0	.	87	Q8N3F8	MILK1_HUMAN	Y	3;87	ENSP00000404543:S3Y;ENSP00000215957:S87Y	ENSP00000215957:S87Y	S	+	2	0	MICALL1	36638368	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.958000	0.49145	1.387000	0.46486	0.632000	0.83419	TCC	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319545.4		+	ENST00000215957.6	Missense_Mutation	SNP	22 : 38308422 - 38308422 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	454	95
SLC35A4	113829	broad.mit.edu	37	5	139947326	139947326	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139947326T>C	ENST00000514199.1	+	2	2258	c.572T>C	c.(571-573)cTc>cCc	p.L191P	SLC35A4_ENST00000323146.3_Missense_Mutation_p.L191P|APBB3_ENST00000507279.1_Intron			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	191	Leu-rich.					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCTGCTGCTCCTCATTCTG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	94	95			NA	NA	5		NA											NA				139947326		2203	4300	6503	SO:0001583	missense			AJ420598	CCDS4231.1	5q31.3	2013-05-22			ENSG00000176087	ENSG00000176087	113829	113829		Solute carriers	20753	protein-coding gene	gene with protein product					NA		Standard	NM_080670	NM_080670	NA	Approved		uc003lgg.1	Q96G79	OTTHUMG00000129495	ENST00000514199.1:c.572T>C	5.37:g.139947326T>C	ENSP00000424566:p.Leu191Pro	NA	A8K013	37	CCDS4231.1	.	.	.	.	.	.	.	.	.	.	T	10.94	1.493211	0.26774	.	.	ENSG00000176087	ENST00000323146;ENST00000514199	T;T	0.48201	0.82;0.82	4.68	4.68	0.58851	.	0.000000	0.64402	D	0.000004	T	0.66426	0.2788	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68135	-0.5489	9	.	.	.	-9.4098	13.9451	0.64080	0.0:0.0:0.0:1.0	.	191	Q96G79	S35A4_HUMAN	P	191	ENSP00000327133:L191P;ENSP00000424566:L191P	.	L	+	2	0	SLC35A4	139927510	1.000000	0.71417	0.962000	0.40283	0.427000	0.31564	7.487000	0.81328	1.961000	0.56991	0.379000	0.24179	CTC	SLC35A4-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372815.1		+	ENST00000514199.1	Missense_Mutation	SNP	5 : 139947326 - 139947326 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	745	145
HGS	9146	broad.mit.edu	37	17	79667816	79667816	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79667816C>T	ENST00000329138.4	+	20	2243	c.2108C>T	c.(2107-2109)tCc>tTc	p.S703F		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	703	Gln-rich.|Interaction with NF2.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CAGTCAGTCTCCATGGGCTAC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	43	44			NA	NA	17		NA											NA				79667816		2203	4300	6503	SO:0001583	missense			D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359	9146	9146		Zinc fingers, FYVE domain containing	4897	protein-coding gene	gene with protein product		604375			NA	9407053, 9630564	Standard	NM_004712	NM_004712	NA	Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.2108C>T	17.37:g.79667816C>T	ENSP00000331201:p.Ser703Phe	NA	Q9NR36	37	CCDS11784.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487308	0.84854	.	.	ENSG00000185359	ENST00000329138;ENST00000442335	T	0.39997	1.05	4.49	4.49	0.54785	.	0.120001	0.34906	U	0.003594	T	0.33962	0.0881	N	0.19112	0.55	0.38773	D	0.95459	P	0.35923	0.528	B	0.39299	0.296	T	0.40117	-0.9580	10	0.51188	T	0.08	-22.7626	16.3251	0.82977	0.0:1.0:0.0:0.0	.	703	O14964	HGS_HUMAN	F	703;617	ENSP00000331201:S703F	ENSP00000331201:S703F	S	+	2	0	HGS	77278221	1.000000	0.71417	0.988000	0.46212	0.992000	0.81027	3.762000	0.55250	2.302000	0.77476	0.561000	0.74099	TCC	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000440541.1		+	ENST00000329138.4	Missense_Mutation	SNP	17 : 79667816 - 79667816 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	76
ALDH1L1	10840	broad.mit.edu	37	3	125833403	125833403	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125833403C>A	ENST00000273450.3	-	18	2326	c.2109G>T	c.(2107-2109)caG>caT	p.Q703H	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.Q693H|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.Q592H|ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000393434.2_Missense_Mutation_p.Q693H	NM_001270364.1	NP_001257293.1	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	693	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCCTCACCATCTGCACAGCCT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	97	100			NA	NA	3		NA											NA				125833403		2203	4300	6503	SO:0001583	missense			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	10840	10840	1.5.1.6	Aldehyde dehydrogenases	3978	protein-coding gene	gene with protein product	cytosolic 10-formyltetrahydrofolate dehydrogenase	600249	formyltetrahydrofolate dehydrogenase	FTHFD	NA		Standard	NM_012190	NM_012190	NA	Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000273450.3:c.2109G>T	3.37:g.125833403C>A	ENSP00000273450:p.Gln703His	NA	Q68CS1	37	CCDS58851.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045867	0.36085	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	T;T;T;T	0.08193	3.12;3.12;3.12;3.12	3.82	1.0	0.19881	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.212560	0.40554	N	0.001072	T	0.09949	0.0244	L	0.38531	1.155	0.80722	D	1	D;D;P	0.59767	0.973;0.986;0.707	P;P;P	0.54889	0.71;0.763;0.5	T	0.19257	-1.0311	10	0.72032	D	0.01	.	2.8212	0.05471	0.2024:0.4583:0.0:0.3393	.	592;228;693	E9PBX3;Q6ZV71;O75891	.;.;AL1L1_HUMAN	H	703;693;592;693	ENSP00000273450:Q703H;ENSP00000420293:Q693H;ENSP00000395881:Q592H;ENSP00000377083:Q693H	ENSP00000273450:Q703H	Q	-	3	2	ALDH1L1	127316093	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	1.044000	0.30329	0.407000	0.25591	-0.339000	0.08088	CAG	ALDH1L1-001	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000246897.1		-	ENST00000273450.3	Missense_Mutation	SNP	3 : 125833403 - 125833403 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	419	81
SMARCD2	6603	broad.mit.edu	37	17	61910761	61910761	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61910761G>A	ENST00000448276.2	-	11	1602	c.1337C>T	c.(1336-1338)tCc>tTc	p.S446F	SMARCD2_ENST00000225742.9_Missense_Mutation_p.S371F|SMARCD2_ENST00000323347.10_Missense_Mutation_p.S398F	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	446					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						CTGGTTGATGGACTCAATGGT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	132	131			NA	NA	17		NA											NA				61910761		2062	4231	6293	SO:0001583	missense			U66618	CCDS45756.1	17q23.3	2014-07-16			ENSG00000108604	ENSG00000108604	6603	6603			11107	protein-coding gene	gene with protein product	mammalian chromatin remodeling complex BRG1-associated factor 60B, Swp73-like protein, chromatin remodeling complex BAF60B subunit, SWI/SNF complex 60 kDa subunit B	601736			NA	8804307, 9693044	Standard	NM_001098426	NM_001098426	NA	Approved	BAF60B, Rsc6p, CRACD2, PRO2451	uc010deb.1	Q92925	OTTHUMG00000179045	ENST00000448276.2:c.1337C>T	17.37:g.61910761G>A	ENSP00000392617:p.Ser446Phe	NA	A5PLL5|A6NNQ7|B4DV56|B4E1R6|Q7L2I6|Q9UHZ1	37	CCDS45756.1	.	.	.	.	.	.	.	.	.	.	.	8.546	0.874368	0.17395	.	.	ENSG00000108604	ENST00000448276;ENST00000225742;ENST00000450364;ENST00000323347	T;T	0.46451	0.87;0.88	5.44	5.44	0.79542	.	0.050846	0.85682	D	0.000000	T	0.44201	0.1282	M	0.62016	1.91	0.58432	D	0.999994	B;P;P	0.44521	0.386;0.837;0.837	B;B;B	0.39876	0.053;0.29;0.312	T	0.50642	-0.8804	10	0.72032	D	0.01	-0.0812	16.7916	0.85590	0.0:0.0:1.0:0.0	.	398;409;446	Q92925-3;B9EGA3;Q92925	.;.;SMRD2_HUMAN	F	446;388;409;398	ENSP00000392617:S446F;ENSP00000318451:S398F	ENSP00000225742:S388F	S	-	2	0	SMARCD2	59264493	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	6.221000	0.72243	2.833000	0.97629	0.650000	0.86243	TCC	SMARCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444544.1		-	ENST00000448276.2	Missense_Mutation	SNP	17 : 61910761 - 61910761 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	418	97
UBE3C	9690	broad.mit.edu	37	7	156974923	156974923	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156974923C>A	ENST00000348165.5	+	8	1252	c.892C>A	c.(892-894)Ctg>Atg	p.L298M	UBE3C_ENST00000389103.4_Missense_Mutation_p.L255M	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	298					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CGAGCCCTTTCTGAATGCACT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	101	101			NA	NA	7		NA											NA				156974923		2203	4300	6503	SO:0001583	missense			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335	9690	9690			16803	protein-coding gene	gene with protein product		614454			NA	7584026, 11278995	Standard	NM_014671	NM_014671	NA	Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.892C>A	7.37:g.156974923C>A	ENSP00000309198:p.Leu298Met	NA	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	37	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.259424	0.59321	.	.	ENSG00000009335	ENST00000348165;ENST00000389103	T	0.55588	0.51	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.71074	0.3297	M	0.67953	2.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.981;0.998;0.999	T	0.69105	-0.5233	10	0.33940	T	0.23	.	18.4758	0.90792	0.0:1.0:0.0:0.0	.	298;298;255	Q15386;Q15386-2;Q15386-3	UBE3C_HUMAN;.;.	M	298;255	ENSP00000309198:L298M	ENSP00000309198:L298M	L	+	1	2	UBE3C	156667684	1.000000	0.71417	0.705000	0.30386	0.062000	0.15995	7.455000	0.80726	2.366000	0.80165	0.455000	0.32223	CTG	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348108.1		+	ENST00000348165.5	Missense_Mutation	SNP	7 : 156974923 - 156974923 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	630	106
CRY1	1407	broad.mit.edu	37	12	107393758	107393758	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107393758G>A	ENST00000008527.5	-	6	1654	c.787C>T	c.(787-789)Cga>Tga	p.R263*		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	263	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding	p.R263*(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						TAAAACAGTCGACATGACAAA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Nonsense(1)	large_intestine(1)											67	68	68			NA	NA	12		NA											NA				107393758		2203	4300	6503	SO:0001587	stop_gained			BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405	1407	1407			2384	protein-coding gene	gene with protein product		601933	cryptochrome 1 (photolyase-like)	PHLL1	NA	8921389	Standard	NM_004075	NM_004075	NA	Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.787C>T	12.37:g.107393758G>A	ENSP00000008527:p.Arg263*	NA		37	CCDS9112.1	.	.	.	.	.	.	.	.	.	.	G	45	11.598548	0.99580	.	.	ENSG00000008405	ENST00000008527	.	.	.	5.82	4.91	0.64330	.	0.056923	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.14	15.7241	0.77740	0.0:0.0:0.8524:0.1475	.	.	.	.	X	263	.	ENSP00000008527:R263X	R	-	1	2	CRY1	105917888	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.411000	0.73298	1.387000	0.46486	0.650000	0.86243	CGA	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406827.1		-	ENST00000008527.5	Nonsense_Mutation	SNP	12 : 107393758 - 107393758 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	299	49
VPS13A	23230	broad.mit.edu	37	9	79933430	79933430	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79933430C>T	ENST00000360280.3	+	41	5496	c.5236C>T	c.(5236-5238)Ctg>Ttg	p.L1746L	VPS13A_ENST00000376636.3_Silent_p.L1707L|VPS13A_ENST00000376634.4_Silent_p.L1746L|VPS13A_ENST00000357409.5_Silent_p.L1746L|VPS13A_ENST00000423463.2_3'UTR	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1746					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACCTATGCTTCTGGCAAAGTC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	70	70			NA	NA	9		NA											NA				79933430		2203	4299	6502	SO:0001819	synonymous_variant			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969	23230	23230			1908	protein-coding gene	gene with protein product	chorein	605978	chorea acanthocytosis, vacuolar protein sorting 13A (yeast)	CHAC	NA	9382101, 11381253	Standard	NM_015186	NM_001018038	NA	Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.5236C>T	9.37:g.79933430C>T		NA	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	37	CCDS6655.1																																																																																			VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052753.2		+	ENST00000360280.3	Silent	SNP	9 : 79933430 - 79933430 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	506	38
DNAH8	1769	broad.mit.edu	37	6	38840488	38840488	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38840488C>T	ENST00000359357.3	+	48	6770	c.6516C>T	c.(6514-6516)gaC>gaT	p.D2172D	DNAH8_ENST00000441566.1_Silent_p.D2136D|DNAH8_ENST00000449981.2_Silent_p.D2389D					dynein, axonemal, heavy chain 8	NA										NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCAGACTGGACACTGCTACCA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	93	94			NA	NA	6		NA											NA				38840488		2203	4300	6503	SO:0001819	synonymous_variant			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721	1769	1769		Axonemal dyneins	2952	protein-coding gene	gene with protein product		603337	dynein, axonemal, heavy polypeptide 8		NA	9373155	Standard	NM_001206927	NM_001206927	NA	Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.6516C>T	6.37:g.38840488C>T		NA		37																																																																																				DNAH8-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000043574.1		+	ENST00000359357.3	Silent	SNP	6 : 38840488 - 38840488 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	377	67
ANO3	63982	broad.mit.edu	37	11	26669283	26669283	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26669283T>C	ENST00000256737.3	+	24	3308	c.2456T>C	c.(2455-2457)aTc>aCc	p.I819T	ANO3_ENST00000537978.1_Missense_Mutation_p.I803T|ANO3_ENST00000525139.1_Missense_Mutation_p.I803T|ANO3_ENST00000531568.1_Missense_Mutation_p.I673T	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	819						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CTCGAAGGAATCGGTATATTG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	126	129			NA	NA	11		NA											NA				26669283		2203	4299	6502	SO:0001583	missense			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343	63982	63982		Ion channels / Chloride channels : Calcium activated : Anoctamins	14004	protein-coding gene	gene with protein product	transmembrane protein 16C (eight membrane-spanning domains)	610110	chromosome 11 open reading frame 25, transmembrane protein 16C	C11orf25, TMEM16C	NA	12739008, 15067359, 23200863, 24692353	Standard	NM_031418	NM_031418	NA	Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.2456T>C	11.37:g.26669283T>C	ENSP00000256737:p.Ile819Thr	NA		37	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	T	19.00	3.742311	0.69418	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	5.49	5.49	0.81192	.	0.047425	0.85682	D	0.000000	D	0.84710	0.5532	M	0.89968	3.075	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.78314	0.986;0.991	D	0.88120	0.2831	10	0.87932	D	0	.	15.2657	0.73660	0.0:0.0:0.0:1.0	.	721;819	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	T	803;803;819;721;673	ENSP00000440737:I803T;ENSP00000432576:I803T;ENSP00000256737:I819T;ENSP00000432394:I673T	ENSP00000256737:I819T	I	+	2	0	ANO3	26625859	1.000000	0.71417	0.959000	0.39883	0.556000	0.35491	8.040000	0.89188	2.096000	0.63516	0.528000	0.53228	ATC	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387806.1		+	ENST00000256737.3	Missense_Mutation	SNP	11 : 26669283 - 26669283 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	80
POLR2B	5431	broad.mit.edu	37	4	57887134	57887134	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57887134G>A	ENST00000381227.1	+	18	2806	c.2393G>A	c.(2392-2394)cGt>cAt	p.R798H	POLR2B_ENST00000441246.2_Missense_Mutation_p.R791H|POLR2B_ENST00000431623.2_Missense_Mutation_p.R723H|POLR2B_ENST00000314595.5_Missense_Mutation_p.R798H			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	798					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					ATCATGAATCGTTCAGCTGTA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	117	120			NA	NA	4		NA											NA				57887134		2203	4300	6503	SO:0001583	missense				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315	5431	5431		RNA polymerase subunits	9188	protein-coding gene	gene with protein product		180661	polymerase (RNA) II (DNA directed) polypeptide B (140kD)		NA	1518060, 8034326	Standard	NM_000938	NM_000938	NA	Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.2393G>A	4.37:g.57887134G>A	ENSP00000370625:p.Arg798His	NA	A8K1A8|Q8IZ61	37	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	G	34	5.306685	0.95629	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.64	5.64	0.86602	DNA-directed RNA polymerase, subunit 2, domain 6 (2);	0.108661	0.64402	D	0.000005	T	0.77585	0.4152	L	0.49571	1.57	0.80722	D	1	P;P	0.47034	0.889;0.889	P;P	0.44477	0.451;0.451	T	0.80692	-0.1269	10	0.87932	D	0	.	17.8818	0.88842	0.0:0.0:1.0:0.0	.	723;798	C9J4M6;P30876	.;RPB2_HUMAN	H	798;723;791;798	ENSP00000370625:R798H;ENSP00000391096:R723H;ENSP00000391452:R791H;ENSP00000312735:R798H	ENSP00000312735:R798H	R	+	2	0	POLR2B	57581891	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.884000	0.87274	2.657000	0.90304	0.655000	0.94253	CGT	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250692.1		+	ENST00000381227.1	Missense_Mutation	SNP	4 : 57887134 - 57887134 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	498	90
HBP1	26959	broad.mit.edu	37	7	106820368	106820368	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:106820368G>A	ENST00000222574.4	+	2	216	c.30G>A	c.(28-30)atG>atA	p.M10I	HBP1_ENST00000468410.1_Missense_Mutation_p.M10I|HBP1_ENST00000485846.1_Missense_Mutation_p.M10I	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	10					cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						CAAATCAGATGCCTAATGCAG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	151	154			NA	NA	7		NA											NA				106820368		2203	4300	6503	SO:0001583	missense			BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856	26959	26959			23200	protein-coding gene	gene with protein product					NA	9030690, 11500377	Standard	NM_012257	NM_001244262	NA	Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.30G>A	7.37:g.106820368G>A	ENSP00000222574:p.Met10Ile	NA	B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	37	CCDS5741.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.222338	0.39300	.	.	ENSG00000105856	ENST00000468410;ENST00000478930;ENST00000464009;ENST00000222574;ENST00000468401;ENST00000497535;ENST00000485846;ENST00000479011;ENST00000498408	D;D;D	0.99051	-5.37;-5.37;-5.37	5.92	5.92	0.95590	.	0.152031	0.64402	D	0.000014	D	0.97188	0.9081	N	0.24115	0.695	0.48185	D	0.9996	B;B;B	0.14012	0.009;0.001;0.009	B;B;B	0.19666	0.026;0.005;0.026	D	0.93205	0.6595	10	0.72032	D	0.01	-5.92	20.3214	0.98679	0.0:0.0:1.0:0.0	.	20;10;10	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	I	10;10;10;10;10;10;10;10;2	ENSP00000420500:M10I;ENSP00000222574:M10I;ENSP00000418738:M10I	ENSP00000222574:M10I	M	+	3	0	HBP1	106607604	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.194000	0.65125	2.804000	0.96469	0.655000	0.94253	ATG	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349297.1		+	ENST00000222574.4	Missense_Mutation	SNP	7 : 106820368 - 106820368 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	618	46
PSMB10	5699	broad.mit.edu	37	16	67969889	67969889	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67969889G>A	ENST00000358514.4	-	4	697	c.360C>T	c.(358-360)cgC>cgT	p.R120R		NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN	proteasome (prosome, macropain) subunit, beta type, 10	120					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|humoral immune response|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		GGCGCAGGATGCGAGTGACCG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	24	23			NA	NA	16		NA											NA				67969889		2190	4280	6470	SO:0001819	synonymous_variant			Y13640	CCDS10853.1	16q22.1	2008-02-05			ENSG00000205220	ENSG00000205220	5699	5699		Proteasome (prosome, macropain) subunits	9538	protein-coding gene	gene with protein product		176847		MECL1	NA	8268911	Standard	NM_002801	NM_002801	NA	Approved	LMP10, MGC1665, beta2i	uc002eux.2	P40306	OTTHUMG00000137553	ENST00000358514.4:c.360C>T	16.37:g.67969889G>A		NA	B2R5J4|Q5U098	37	CCDS10853.1																																																																																			PSMB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268887.1		-	ENST00000358514.4	Silent	SNP	16 : 67969889 - 67969889 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	282	56
SLC35F6	54978	broad.mit.edu	37	2	27000925	27000925	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27000925T>G	ENST00000344420.5	+	6	724	c.662T>G	c.(661-663)gTg>gGg	p.V221G	SLC35F6_ENST00000482746.1_3'UTR|SLC35F6_ENST00000416475.2_Missense_Mutation_p.V138G|CENPA_ENST00000475662.1_Intron	NM_017877.3	NP_060347.2			solute carrier family 35, member F6	NA											NA						TTTGGCTTTGTGATCCTCTCC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	137	142			NA	NA	2		NA											NA				27000925		2203	4300	6503	SO:0001583	missense			AK075164	CCDS1728.1	2p24.1	2012-12-13	2012-12-07	2012-12-07	ENSG00000213699	ENSG00000213699	54978	54978			26055	protein-coding gene	gene with protein product	ANT2-binding protein, transport and golgi organization 9 homolog (Drosophila)		chromosome 2 open reading frame 18	C2orf18	NA	15911612, 19154410	Standard	NM_017877	NM_017877	NA	Approved	FLJ20555, ANT2BP, TANGO9	uc002rhp.1	Q8N357	OTTHUMG00000128407	ENST00000344420.5:c.662T>G	2.37:g.27000925T>G	ENSP00000345528:p.Val221Gly	NA		37	CCDS1728.1	.	.	.	.	.	.	.	.	.	.	T	14.24	2.477788	0.44044	.	.	ENSG00000213699	ENST00000344420;ENST00000416475	.	.	.	5.35	5.35	0.76521	.	0.173476	0.49916	D	0.000131	T	0.57184	0.2036	L	0.52126	1.63	0.80722	D	1	B;B;B	0.19445	0.008;0.036;0.001	B;B;B	0.19666	0.006;0.026;0.006	T	0.54323	-0.8311	9	0.37606	T	0.19	.	14.1701	0.65503	0.0:0.0:0.0:1.0	.	74;138;221	E7ET27;B4DLH2;Q8N357	.;.;CB018_HUMAN	G	221;138	.	ENSP00000345528:V221G	V	+	2	0	C2orf18	26854429	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	5.519000	0.67074	2.037000	0.60232	0.459000	0.35465	GTG	SLC35F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250187.2		+	ENST00000344420.5	Missense_Mutation	SNP	2 : 27000925 - 27000925 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	485	118
BTN2A1	11120	broad.mit.edu	37	6	26459981	26459981	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26459981G>T	ENST00000429381.1	+	3	567	c.355G>T	c.(355-357)Gaa>Taa	p.E119*	BTN2A1_ENST00000469185.1_Nonsense_Mutation_p.E119*|BTN2A1_ENST00000312541.5_Nonsense_Mutation_p.E119*|BTN2A1_ENST00000541522.1_Nonsense_Mutation_p.E58*			Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	119	Ig-like V-type.			E -> G (in Ref. 1; AAC02650/AAC02653).	lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						CACAGCCCAGGAAAACGGCAC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	90	100			NA	NA	6		NA											NA				26459981		2203	4300	6503	SO:0001587	stop_gained			U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763	11120	11120		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Butyrophilins	1136	protein-coding gene	gene with protein product		613590			NA	9382921, 9149941	Standard	NM_007049	NM_007049	NA	Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000429381.1:c.355G>T	6.37:g.26459981G>T	ENSP00000416945:p.Glu119*	NA	O00475|P78408|Q7KYQ7|Q7Z386|Q9NU62	37	CCDS47390.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.046061	0.55110	.	.	ENSG00000112763	ENST00000312541;ENST00000493173;ENST00000541522;ENST00000429381;ENST00000265424;ENST00000469185	.	.	.	3.01	2.13	0.27403	.	0.523957	0.17331	N	0.178112	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.2759	0.31873	0.1251:0.0:0.8749:0.0	.	.	.	.	X	119;58;58;119;119;119	.	ENSP00000265424:E119X	E	+	1	0	BTN2A1	26567960	0.997000	0.39634	0.004000	0.12327	0.171000	0.22731	5.379000	0.66196	0.843000	0.35070	0.561000	0.74099	GAA	BTN2A1-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354193.1		+	ENST00000429381.1	Nonsense_Mutation	SNP	6 : 26459981 - 26459981 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	224	9
DCHS2	54798	broad.mit.edu	37	4	155157462	155157462	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155157462T>G	ENST00000357232.4	-	25	6976	c.6977A>C	c.(6976-6978)aAt>aCt	p.N2326T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	NA	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AATAGGCAGATTTTCTGGAAC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	94	97			NA	NA	4		NA											NA				155157462		2203	4300	6503	SO:0001583	missense			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410	54798	54798		Cadherins / Cadherin-related	23111	protein-coding gene	gene with protein product	cadherin-related family member 7	612486	cadherin-like 27, dachsous 2 (Drosophila)	CDH27, PCDH23	NA	15003449	Standard	NM_001142552	NM_017639	NA	Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.6977A>C	4.37:g.155157462T>G	ENSP00000349768:p.Asn2326Thr	NA	Q4W5P9|Q6ZS61|Q9NXU8	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	T	14.70	2.612391	0.46631	.	.	ENSG00000197410	ENST00000357232	T	0.25414	1.8	5.68	5.68	0.88126	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000001	T	0.56688	0.2002	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63778	-0.6560	10	0.72032	D	0.01	.	15.9379	0.79729	0.0:0.0:0.0:1.0	.	2326	Q6V1P9	PCD23_HUMAN	T	2326	ENSP00000349768:N2326T	ENSP00000349768:N2326T	N	-	2	0	DCHS2	155376912	1.000000	0.71417	0.921000	0.36526	0.010000	0.07245	6.287000	0.72671	2.151000	0.67156	0.523000	0.50628	AAT	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365281.2		-	ENST00000357232.4	Missense_Mutation	SNP	4 : 155157462 - 155157462 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	599	108
MR1	3140	broad.mit.edu	37	1	181019366	181019366	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181019366G>A	ENST00000367580.5	+	3	553	c.548G>A	c.(547-549)tGt>tAt	p.C183Y	MR1_ENST00000434571.2_Missense_Mutation_p.C183Y|MR1_ENST00000282990.6_Missense_Mutation_p.C183Y|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000367579.3_Missense_Mutation_p.C138Y	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	183	Alpha-2.|Ligand-binding.				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						GAAGAAGAATGTATTGCCTGG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(174;1412 1962 45296 46549 47110)							NA				0													101	101	101			NA	NA	1		NA											NA				181019366		2203	4300	6503	SO:0001583	missense			AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029	3140	3140		Immunoglobulin superfamily / C1-set domain containing	4975	protein-coding gene	gene with protein product		600764	major histocompatibility complex, class I-like sequence	HLALS	NA	7624800, 9784382	Standard	NM_001531	NM_001194999	NA	Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.548G>A	1.37:g.181019366G>A	ENSP00000356552:p.Cys183Tyr	NA	A8K2V9|O97985|O97986|Q53GM1|Q95HB8|Q9NPL2|Q9TQB9|Q9TQK3	37	CCDS1342.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.472613	0.63737	.	.	ENSG00000153029	ENST00000434571;ENST00000367580;ENST00000282990;ENST00000367579	T;T;T;D	0.99413	7.85;7.85;7.85;-5.86	4.81	3.87	0.44632	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.000000	0.64402	D	0.000004	D	0.99635	0.9866	H	0.96805	3.885	0.58432	D	0.999993	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.998;0.998;0.999;0.998	D	0.98210	1.0472	10	0.87932	D	0	.	10.0672	0.42311	0.1034:0.0:0.8966:0.0	.	183;183;138;183;183	B4E3B1;Q95460-3;Q95460-2;Q95460;Q95460-4	.;.;.;HMR1_HUMAN;.	Y	183;183;183;138	ENSP00000388504:C183Y;ENSP00000356552:C183Y;ENSP00000282990:C183Y;ENSP00000356551:C138Y	ENSP00000282990:C183Y	C	+	2	0	MR1	179285989	0.998000	0.40836	0.992000	0.48379	0.870000	0.49936	2.947000	0.49058	1.174000	0.42811	0.557000	0.71058	TGT	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085134.2		+	ENST00000367580.5	Missense_Mutation	SNP	1 : 181019366 - 181019366 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	481	79
CCAR1	55749	broad.mit.edu	37	10	70515188	70515188	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70515188C>T	ENST00000265872.6	+	13	1639	c.1520C>T	c.(1519-1521)tCg>tTg	p.S507L	CCAR1_ENST00000535016.1_Missense_Mutation_p.S492L|CCAR1_ENST00000543719.1_Missense_Mutation_p.S492L|CCAR1_ENST00000483264.1_3'UTR	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	507					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TGGTCTCCTTCGTTGGATGGA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	175	176			NA	NA	10		NA											NA				70515188		2203	4300	6503	SO:0001583	missense			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339	55749	55749			24236	protein-coding gene	gene with protein product		612569			NA	12816952	Standard	NM_018237	NM_018237	NA	Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.1520C>T	10.37:g.70515188C>T	ENSP00000265872:p.Ser507Leu	NA	A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	37	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217857	0.58560	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73	5.72	5.72	0.89469	.	0.063959	0.64402	D	0.000004	T	0.74275	0.3695	M	0.84433	2.695	0.80722	D	1	P;P;D	0.89917	0.472;0.528;1.0	B;B;D	0.87578	0.141;0.221;0.998	T	0.77635	-0.2514	10	0.87932	D	0	-1.9755	19.8722	0.96854	0.0:1.0:0.0:0.0	.	492;507;481	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	L	507;492;492;492;481;312	ENSP00000265872:S507L;ENSP00000441820:S492L;ENSP00000445254:S492L;ENSP00000439252:S492L;ENSP00000438610:S481L;ENSP00000439642:S312L	ENSP00000265872:S507L	S	+	2	0	CCAR1	70185194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.015000	0.70791	2.700000	0.92200	0.585000	0.79938	TCG	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048356.2		+	ENST00000265872.6	Missense_Mutation	SNP	10 : 70515188 - 70515188 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	578	117
NYNRIN	57523	broad.mit.edu	37	14	24868646	24868646	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24868646C>T	ENST00000382554.3	+	2	512	c.194C>T	c.(193-195)gCc>gTc	p.A65V		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	65					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						ATGGGCAAAGCCAAGGTAAAC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	23	22			NA	NA	14		NA											NA				24868646		1928	4126	6054	SO:0001583	missense			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978	57523	57523			20165	protein-coding gene	gene with protein product	Cousin of GIN1		KIAA1305	KIAA1305	NA	19561090, 17114934	Standard		NM_025081	NA	Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.194C>T	14.37:g.24868646C>T	ENSP00000371994:p.Ala65Val	NA	Q6P153|Q86TR3|Q9HAC4	37	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987209	0.93106	.	.	ENSG00000205978	ENST00000382554	T	0.37915	1.17	4.13	4.13	0.48395	.	0.000000	0.33732	U	0.004607	T	0.59878	0.2226	M	0.77820	2.39	0.33606	D	0.603016	D	0.76494	0.999	D	0.75484	0.986	T	0.74228	-0.3733	10	0.87932	D	0	.	13.9118	0.63871	0.0:1.0:0.0:0.0	.	65	Q9P2P1	NYNRI_HUMAN	V	65	ENSP00000371994:A65V	ENSP00000371994:A65V	A	+	2	0	NYNRIN	23938486	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.676000	0.46883	2.129000	0.65627	0.313000	0.20887	GCC	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412939.1		+	ENST00000382554.3	Missense_Mutation	SNP	14 : 24868646 - 24868646 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	98	16
ERBB2	2064	broad.mit.edu	37	17	37864607	37864607	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37864607G>A	ENST00000584450.1	+	3	474	c.259G>A	c.(259-261)Gct>Act	p.A87T	ERBB2_ENST00000540147.1_Missense_Mutation_p.A57T|ERBB2_ENST00000541774.1_Missense_Mutation_p.A72T|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000584601.1_Missense_Mutation_p.A57T|ERBB2_ENST00000406381.2_Missense_Mutation_p.A57T|ERBB2_ENST00000578199.1_Missense_Mutation_p.A57T|ERBB2_ENST00000540042.1_Missense_Mutation_p.A57T|ERBB2_ENST00000269571.5_Missense_Mutation_p.A87T			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	87					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CGTGCTCATCGCTCACAACCA	0.612		1	A, Mis, O		breast, ovarian, other tumour types, NSCLC, gastric					TCGA GBM(5;<1E-08)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		17	17q21.1	2064	v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)		E	0													79	74	76			NA	NA	17		NA											NA				37864607		2203	4300	6503	SO:0001583	missense			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736	2064	2064		CD molecules	3430	protein-coding gene	gene with protein product	neuro/glioblastoma derived oncogene homolog	164870	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)	NGL	NA		Standard		XM_005257140	NA	Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000584450.1:c.259G>A	17.37:g.37864607G>A	ENSP00000463714:p.Ala87Thr	NA	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4	37		.	.	.	.	.	.	.	.	.	.	G	19.04	3.750857	0.69533	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32	5.21	5.21	0.72293	EGF receptor, L domain (1);	.	.	.	.	D	0.86871	0.6037	L	0.43152	1.355	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.936	D	0.87494	0.2429	9	0.87932	D	0	.	18.9063	0.92462	0.0:0.0:1.0:0.0	.	57;72;87;87	F5H1T4;P04626-4;P04626;Q9UK79	.;.;ERBB2_HUMAN;.	T	57;72;87;57;57	ENSP00000385185:A57T;ENSP00000446466:A72T;ENSP00000269571:A87T;ENSP00000443562:A57T;ENSP00000446382:A57T	ENSP00000269571:A87T	A	+	1	0	ERBB2	35118133	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	9.448000	0.97600	2.873000	0.98535	0.561000	0.74099	GCT	ERBB2-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000445618.1		+	ENST00000584450.1	Missense_Mutation	SNP	17 : 37864607 - 37864607 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	494	102
LLGL2	3993	broad.mit.edu	37	17	73566533	73566533	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73566533G>T	ENST00000392550.3	+	16	2096	c.1979G>T	c.(1978-1980)aGc>aTc	p.S660I	LLGL2_ENST00000577200.1_Missense_Mutation_p.S660I|LLGL2_ENST00000167462.5_Missense_Mutation_p.S660I	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	660					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			ATGCGTCGGAGCCGGGTGTCC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	19	20			NA	NA	17		NA											NA				73566533		2189	4288	6477	SO:0001583	missense			X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350	3993	3993		WD repeat domain containing	6629	protein-coding gene	gene with protein product			lethal giant larvae (Drosophila) homolog 2		NA		Standard	NM_004524	XR_243659	NA	Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.1979G>T	17.37:g.73566533G>T	ENSP00000376333:p.Ser660Ile	NA	Q14521|Q9BR62	37	CCDS32733.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147517	0.37923	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.65364	-0.15;-0.15	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.79656	0.4483	M	0.76328	2.33	0.58432	D	0.999999	D;D;D;D;D	0.89917	0.991;0.999;1.0;1.0;0.999	P;D;D;D;D	0.87578	0.872;0.996;0.998;0.993;0.979	T	0.82030	-0.0659	10	0.62326	D	0.03	-0.551	18.2389	0.89960	0.0:0.0:1.0:0.0	.	287;649;649;660;660	B4DVR9;B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;.;L2GL2_HUMAN	I	660;660;649	ENSP00000167462:S660I;ENSP00000376333:S660I	ENSP00000167462:S660I	S	+	2	0	LLGL2	71078128	1.000000	0.71417	0.937000	0.37676	0.141000	0.21300	9.801000	0.99128	2.314000	0.78098	0.549000	0.68633	AGC	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447633.1		+	ENST00000392550.3	Missense_Mutation	SNP	17 : 73566533 - 73566533 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	60	11
SIPA1	6494	broad.mit.edu	37	11	65408725	65408725	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65408725T>C	ENST00000527525.1	+	2	580	c.333T>C	c.(331-333)ctT>ctC	p.L111L	SIPA1_ENST00000394227.3_Silent_p.L111L|SIPA1_ENST00000534313.1_Silent_p.L111L|SIPA1_ENST00000394224.3_Silent_p.L111L			Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	111					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CACCAGTGCTTGAGCCTCGAT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	80	80			NA	NA	11		NA											NA				65408725		2201	4297	6498	SO:0001819	synonymous_variant			AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445	6494	6494			10885	protein-coding gene	gene with protein product		602180			NA	9027487	Standard	NM_006747	NM_006747	NA	Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000527525.1:c.333T>C	11.37:g.65408725T>C		NA	O14518|O60484|O60618|Q2YD83	37																																																																																				SIPA1-002	NOVEL	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000390355.1		+	ENST00000527525.1	Silent	SNP	11 : 65408725 - 65408725 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	740	26
FLG	2312	broad.mit.edu	37	1	152276040	152276040	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152276040G>A	ENST00000368799.1	-	3	11357	c.11322C>T	c.(11320-11322)caC>caT	p.H3774H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3774	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.H3774H(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGATTGCTCGTGGTAGGATC	0.592		NA							Ichthyosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - coding silent(2)	lung(1)|prostate(1)											379	367	371			NA	NA	1		NA											NA				152276040		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631	2312	2312		EF-hand domain containing	3748	protein-coding gene	gene with protein product		135940			NA	2740331, 2248957, 16444271	Standard	NM_002016	NM_002016	NA	Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11322C>T	1.37:g.152276040G>A		NA	Q01720|Q5T583|Q9UC71	37	CCDS30860.1																																																																																			FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033742.1		-	ENST00000368799.1	Silent	SNP	1 : 152276040 - 152276040 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	3092	264
LOXL2	4017	broad.mit.edu	37	8	23198655	23198655	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23198655C>T	ENST00000389131.3	-	4	962	c.593G>A	c.(592-594)cGc>cAc	p.R198H	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	198	SRCR 2.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CACTGGGGTGCGCTTGCGGTA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	126	138			NA	NA	8		NA											NA				23198655		2203	4300	6503	SO:0001583	missense			U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013	4017	4017			6666	protein-coding gene	gene with protein product		606663			NA	9722957	Standard		NM_002318	NA	Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.593G>A	8.37:g.23198655C>T	ENSP00000373783:p.Arg198His	NA	Q9BW70|Q9Y5Y8	37	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029717	0.54790	.	.	ENSG00000134013	ENST00000389131	T	0.01258	5.09	5.68	4.81	0.61882	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.051494	0.85682	D	0.000000	T	0.02688	0.0081	M	0.66439	2.03	0.80722	D	1	B	0.33288	0.406	B	0.35240	0.198	T	0.54262	-0.8320	10	0.36615	T	0.2	.	11.5499	0.50715	0.0:0.9169:0.0:0.0831	.	198	Q9Y4K0	LOXL2_HUMAN	H	198	ENSP00000373783:R198H	ENSP00000373783:R198H	R	-	2	0	LOXL2	23254600	1.000000	0.71417	0.662000	0.29724	0.110000	0.19582	6.007000	0.70731	1.400000	0.46741	0.655000	0.94253	CGC	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375603.1		-	ENST00000389131.3	Missense_Mutation	SNP	8 : 23198655 - 23198655 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	641	107
ZNF225	7768	broad.mit.edu	37	19	44636026	44636026	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44636026G>T	ENST00000262894.6	+	5	1539	c.1259G>T	c.(1258-1260)aGa>aTa	p.R420I	ZNF225_ENST00000590612.1_Missense_Mutation_p.R420I|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				TCTCACCAGAGAGCGCACAGT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	105	103			NA	NA	19		NA											NA				44636026		2197	4297	6494	SO:0001583	missense			AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294	7768	7768		Zinc fingers, C2H2-type, -	13018	protein-coding gene	gene with protein product					NA		Standard		NM_013362	NA	Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.1259G>T	19.37:g.44636026G>T	ENSP00000262894:p.Arg420Ile	NA	A8K8S2|Q53F12|Q9NS46|Q9UID8	37	CCDS46100.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.619663	0.46736	.	.	ENSG00000256294	ENST00000262894;ENST00000544184	T	0.24908	1.83	2.65	-5.3	0.02738	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24547	0.0595	M	0.71036	2.16	0.09310	N	1	D	0.53462	0.96	P	0.44673	0.457	T	0.07849	-1.0751	9	0.59425	D	0.04	.	4.1269	0.10131	0.2968:0.0:0.3695:0.3337	.	420	Q9UK10	ZN225_HUMAN	I	420;384	ENSP00000262894:R420I	ENSP00000262894:R420I	R	+	2	0	ZNF225	49327866	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.654000	0.01984	-1.272000	0.02427	-0.314000	0.08810	AGA	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460581.1		+	ENST00000262894.6	Missense_Mutation	SNP	19 : 44636026 - 44636026 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	611	122
KIAA1598	57698	broad.mit.edu	37	10	118738814	118738814	+	Translation_Start_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118738814C>A	ENST00000260777.10	-	2	349	c.64G>T	c.(64-66)Ggc>Tgc	p.G22C	KIAA1598_ENST00000392903.2_Missense_Mutation_p.G22C|KIAA1598_ENST00000355371.4_Missense_Mutation_p.G22C|KIAA1598_ENST00000392901.4_De_novo_Start_OutOfFrame	NM_018330.6	NP_060800.2	A0MZ66	SHOT1_HUMAN	KIAA1598	22					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		TCATATTCGCCTATTGCTAAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	109	110			NA	NA	10		NA											NA				118738814		2203	4300	6503	SO:0001583	missense			BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164	57698	57698			29319	protein-coding gene	gene with protein product		611171			NA	10997877, 17030985	Standard	NM_018330	NM_001127211	NA	Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000260777.10:c.64G>T	10.37:g.118738814C>A	ENSP00000260777:p.Gly22Cys	NA	A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	37	CCDS31293.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.836339	0.71373	.	.	ENSG00000187164	ENST00000392903;ENST00000260777;ENST00000355371	D;D;D	0.91631	-2.88;-2.88;-2.88	6.07	6.07	0.98685	.	0.291016	0.34362	N	0.004035	D	0.92721	0.7686	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93178	0.6572	10	0.59425	D	0.04	-10.5094	16.1594	0.81686	0.0:1.0:0.0:0.0	.	22;22	A0MZ66;A0MZ66-2	SHOT1_HUMAN;.	C	22	ENSP00000376636:G22C;ENSP00000260777:G22C;ENSP00000347532:G22C	ENSP00000260777:G22C	G	-	1	0	KIAA1598	118728804	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.029000	0.57253	2.885000	0.99019	0.655000	0.94253	GGC	KIAA1598-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050553.1		-	ENST00000260777.10	Missense_Mutation	SNP	10 : 118738814 - 118738814 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	44
RIF1	55183	broad.mit.edu	37	2	152322075	152322075	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152322075C>T	ENST00000243326.5	+	29	6524	c.6041C>T	c.(6040-6042)aCg>aTg	p.T2014M	RIF1_ENST00000444746.2_Missense_Mutation_p.T2014M|RIF1_ENST00000430328.2_Missense_Mutation_p.T2014M|RIF1_ENST00000428287.2_Missense_Mutation_p.T2014M|RIF1_ENST00000453091.2_Missense_Mutation_p.T2014M			Q5UIP0	RIF1_HUMAN	replication timing regulatory factor 1	NA	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TCTGAAGAAACGAATACCAAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	59	60			NA	NA	2		NA											NA				152322075		2203	4300	6503	SO:0001583	missense			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345	55183	55183			23207	protein-coding gene	gene with protein product		608952	RAP1 interacting factor homolog (yeast)		NA	15342490, 15042697, 22850674	Standard		NM_018151	NA	Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.6041C>T	2.37:g.152322075C>T	ENSP00000243326:p.Thr2014Met	NA	A6NC27|C9JBR1|Q5H9R3|Q5UIP2|Q66YK6|Q6PRU2|Q8TE94|Q99772|Q9H830|Q9H9B9|Q9NVP5|Q9Y4R4	37	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	C	4.859	0.159683	0.09287	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.08634	3.07;3.07;3.07;3.07;3.07	5.12	1.5	0.22942	.	1.526730	0.03207	N	0.175587	T	0.03305	0.0096	N	0.01352	-0.895	0.18873	N	0.999982	B;B	0.15719	0.008;0.014	B;B	0.08055	0.001;0.003	T	0.34403	-0.9830	10	0.33940	T	0.23	0.8415	4.687	0.12762	0.0:0.1799:0.1638:0.6563	.	2014;2014	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	M	2014	ENSP00000390181:T2014M;ENSP00000414615:T2014M;ENSP00000415691:T2014M;ENSP00000243326:T2014M;ENSP00000416123:T2014M	ENSP00000243326:T2014M	T	+	2	0	RIF1	152030321	0.005000	0.15991	0.010000	0.14722	0.003000	0.03518	0.278000	0.18753	0.106000	0.17784	-0.312000	0.09012	ACG	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254836.3		+	ENST00000243326.5	Missense_Mutation	SNP	2 : 152322075 - 152322075 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	203	30
KAT6B	23522	broad.mit.edu	37	10	76784866	76784866	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76784866A>G	ENST00000287239.4	+	17	4012	c.3523A>G	c.(3523-3525)Acc>Gcc	p.T1175A	KAT6B_ENST00000372714.1_Missense_Mutation_p.T883A|KAT6B_ENST00000490365.1_3'UTR|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372711.1_Missense_Mutation_p.T992A|KAT6B_ENST00000372724.1_Missense_Mutation_p.T883A|KAT6B_ENST00000372725.1_Missense_Mutation_p.T883A	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1175					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding				NA						GCTGGAGCCTACCTGTGAGAT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	91	95			NA	NA	10		NA											NA				76784866		2203	4300	6503	SO:0001583	missense			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650	23522	23522		Chromatin-modifying enzymes / K-acetyltransferases, Zinc fingers, C2HC-type containing, Zinc fingers, PHD-type	17582	protein-coding gene	gene with protein product	MOZ-related factor	605880	MYST histone acetyltransferase (monocytic leukemia) 4	MYST4	NA	9205841, 10497217	Standard	NM_012330	NM_012330	NA	Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.3523A>G	10.37:g.76784866A>G	ENSP00000287239:p.Thr1175Ala	NA	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	37	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.087274	0.76642	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.78707	2.21;2.21;-1.2;2.21;-1.19	5.8	5.8	0.92144	.	0.000000	0.47455	D	0.000221	D	0.85173	0.5636	L	0.55990	1.75	0.53005	D	0.999961	D;P;D	0.67145	0.996;0.891;0.982	D;P;D	0.76071	0.987;0.543;0.952	D	0.86026	0.1510	10	0.59425	D	0.04	-10.4242	14.7076	0.69203	1.0:0.0:0.0:0.0	.	992;883;1175	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	A	883;883;1175;883;992	ENSP00000361810:T883A;ENSP00000361809:T883A;ENSP00000287239:T1175A;ENSP00000361799:T883A;ENSP00000361796:T992A	ENSP00000287239:T1175A	T	+	1	0	KAT6B	76454872	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.186000	0.65082	2.212000	0.71576	0.533000	0.62120	ACC	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048771.1		+	ENST00000287239.4	Missense_Mutation	SNP	10 : 76784866 - 76784866 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	344	60
MGAT5B	146664	broad.mit.edu	37	17	74944060	74944060	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74944060C>T	ENST00000569840.2	+	17	2646	c.2072C>T	c.(2071-2073)gCc>gTc	p.A691V	MGAT5B_ENST00000301618.4_Missense_Mutation_p.A689V|MGAT5B_ENST00000428789.2_Missense_Mutation_p.A700V	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	691						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCCCTGCGGGCCTGGCTGGCC	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	22	22			NA	NA	17		NA											NA				74944060		2201	4298	6499	SO:0001583	missense			AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889	146664	146664		Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases	24140	protein-coding gene	gene with protein product		612441	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B		NA	14617637, 14623122	Standard	NM_144677	NM_001199172	NA	Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.2072C>T	17.37:g.74944060C>T	ENSP00000456037:p.Ala691Val	NA	Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	37	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	C	3.394	-0.123698	0.06795	.	.	ENSG00000167889	ENST00000301618;ENST00000428789	T;T	0.38560	1.14;1.13	4.66	3.66	0.41972	.	0.238298	0.34411	N	0.003988	T	0.10508	0.0257	N	0.01048	-1.04	0.33707	D	0.615329	B;B;B	0.24823	0.018;0.01;0.112	B;B;B	0.22601	0.011;0.007;0.04	T	0.33954	-0.9848	10	0.02654	T	1	-28.8763	4.132	0.10154	0.0:0.4802:0.3008:0.219	.	96;700;689	Q3V5L5-4;Q3V5L5-2;Q3V5L5-5	.;.;.	V	689;700	ENSP00000301618:A689V;ENSP00000391227:A700V	ENSP00000301618:A689V	A	+	2	0	MGAT5B	72455655	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	1.601000	0.36773	2.129000	0.65627	0.557000	0.71058	GCC	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460624.2		+	ENST00000569840.2	Missense_Mutation	SNP	17 : 74944060 - 74944060 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	169	28
SORBS1	10580	broad.mit.edu	37	10	97096906	97096906	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97096906G>A	ENST00000371227.4	-	28	3062	c.2873C>T	c.(2872-2874)aCc>aTc	p.T958I	SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371247.2_Missense_Mutation_p.T1004I|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000361941.3_Missense_Mutation_p.T1004I			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	1004					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CAAGGGTGGGGTCAGGGCCAG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	38	36			NA	NA	10		NA											NA				97096906		2203	4300	6503	SO:0001583	missense			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637	10580	10580			14565	protein-coding gene	gene with protein product	c-Cbl-associated protein	605264	SH3-domain protein 5 (ponsin)	SH3D5	NA	10085297, 11001060	Standard		XM_005269405	NA	Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000371227.4:c.2873C>T	10.37:g.97096906G>A	ENSP00000360271:p.Thr958Ile	NA	A0AED4|A6NEK3|A6NID8|A6NJS4|A7MD40|D3DR42|O43857|Q5T923|Q5T924|Q5T927|Q5T928|Q5T929|Q5T930|Q5T931|Q5T932|Q7LBE5|Q8IVK0|Q8IVQ4|Q96KF3|Q96KF4|Q9BX64|Q9BX65|Q9P2Q0|Q9UFT2|Q9UHN7|Q9Y338	37		.	.	.	.	.	.	.	.	.	.	G	25.6	4.653179	0.88056	.	.	ENSG00000095637	ENST00000371247;ENST00000371227;ENST00000361941	T;T;T	0.10668	2.87;2.85;2.87	5.58	5.58	0.84498	.	0.000000	0.43579	D	0.000555	T	0.20170	0.0485	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.13818	-1.0495	10	0.17832	T	0.49	-13.6303	19.5597	0.95367	0.0:0.0:1.0:0.0	.	958;1004	Q9BX66-11;Q9BX66	.;SRBS1_HUMAN	I	1004;958;1004	ENSP00000360293:T1004I;ENSP00000360271:T958I;ENSP00000355136:T1004I	ENSP00000355136:T1004I	T	-	2	0	SORBS1	97086896	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.188000	0.94921	2.641000	0.89580	0.561000	0.74099	ACC	SORBS1-015	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000049528.2		-	ENST00000371227.4	Missense_Mutation	SNP	10 : 97096906 - 97096906 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	28
CEP72	55722	broad.mit.edu	37	5	639260	639260	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:639260G>A	ENST00000264935.5	+	8	1353	c.1263G>A	c.(1261-1263)gcG>gcA	p.A421A	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	421					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			TGCAGGCGGCGCTCCTGGAGA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	43	41			NA	NA	5		NA											NA				639260		2203	4300	6503	SO:0001819	synonymous_variant			BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877	55722	55722			25547	protein-coding gene	gene with protein product					NA	10819331	Standard	NM_018140	NM_018140	NA	Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.1263G>A	5.37:g.639260G>A		NA	B4DR26|Q9BV03|Q9BWM3|Q9NVR4	37	CCDS34126.1																																																																																			CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365967.3		+	ENST00000264935.5	Silent	SNP	5 : 639260 - 639260 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	422	18
MROH9	80133	broad.mit.edu	37	1	170965707	170965707	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:170965707T>C	ENST00000367758.3	+	14	1496	c.1397T>C	c.(1396-1398)aTt>aCt	p.I466T	MROH9_ENST00000367759.4_Missense_Mutation_p.I466T	NM_025063.2	NP_079339.2			maestro heat-like repeat family member 9	NA											NA						CAGGTGGATATTACTCTAATG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	170	172			NA	NA	1		NA											NA				170965707		1876	4111	5987	SO:0001583	missense			AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501	80133	80133		maestro heat-like repeat containing	26287	protein-coding gene	gene with protein product			chromosome 1 open reading frame 129	C1orf129	NA		Standard	NM_025063	NM_025063	NA	Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1397T>C	1.37:g.170965707T>C	ENSP00000356732:p.Ile466Thr	NA		37	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	T	4.605	0.112402	0.08831	.	.	ENSG00000117501	ENST00000367759;ENST00000367758	T;T	0.12984	4.32;2.63	5.75	-11.5	0.00074	.	2.917160	0.00639	N	0.000512	T	0.01905	0.0060	N	0.25647	0.755	0.09310	N	1	B;B	0.17667	0.023;0.023	B;B	0.08055	0.003;0.003	T	0.19386	-1.0307	10	0.19147	T	0.46	5.379	8.5234	0.33291	0.1652:0.5609:0.1613:0.1125	.	466;466	F5GWX6;Q5TGP6	.;CA129_HUMAN	T	466	ENSP00000356733:I466T;ENSP00000356732:I466T	ENSP00000356732:I466T	I	+	2	0	C1orf129	169232331	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-4.968000	0.00165	-2.614000	0.00443	-0.250000	0.11733	ATT	MROH9-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000099327.1		+	ENST00000367758.3	Missense_Mutation	SNP	1 : 170965707 - 170965707 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	665	22
ITIH5	80760	broad.mit.edu	37	10	7682770	7682770	+	Missense_Mutation	SNP	C	C	A	rs146396908	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7682770C>A	ENST00000256861.6	-	4	426	c.348G>T	c.(346-348)aaG>aaT	p.K116N	ITIH5_ENST00000397146.2_Missense_Mutation_p.K116N|ITIH5_ENST00000397145.2_Missense_Mutation_p.K116N|ITIH5_ENST00000446830.2_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	116	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CACCACTCTTCTTTTCTCTCT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													260	252	255			NA	NA	10		NA											NA				7682770		2203	4300	6503	SO:0001583	missense					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243	80760	80760			21449	protein-coding gene	gene with protein product		609783	inter-alpha (globulin) inhibitor H5		NA	14744536	Standard	NM_030569	NM_001001851	NA	Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.348G>T	10.37:g.7682770C>A	ENSP00000256861:p.Lys116Asn	NA	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	37		.	.	.	.	.	.	.	.	.	.	C	15.82	2.945221	0.53079	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000397145	T;T;T	0.24538	1.85;1.85;1.85	5.71	3.86	0.44501	Vault protein inter-alpha-trypsin (2);	0.364388	0.33253	N	0.005109	T	0.40743	0.1129	.	.	.	0.42723	D	0.993683	P;D	0.60575	0.956;0.988	P;P	0.55785	0.637;0.784	T	0.31558	-0.9939	9	0.66056	D	0.02	-27.732	10.2142	0.43158	0.0:0.8446:0.0:0.1554	.	116;116	G5E9D8;Q86UX2	.;ITIH5_HUMAN	N	116	ENSP00000256861:K116N;ENSP00000380333:K116N;ENSP00000380332:K116N	ENSP00000256861:K116N	K	-	3	2	ITIH5	7722776	1.000000	0.71417	0.358000	0.25811	0.384000	0.30261	1.835000	0.39181	0.751000	0.32900	0.563000	0.77884	AAG	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000046688.1		-	ENST00000256861.6	Missense_Mutation	SNP	10 : 7682770 - 7682770 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	848	107
WDR7	23335	broad.mit.edu	37	18	54385226	54385226	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:54385226C>T	ENST00000254442.3	+	13	1821	c.1610C>T	c.(1609-1611)gCc>gTc	p.A537V	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.A537V	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	537										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TGCTCTGTAGCCAGTGACCAC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	121	125			NA	NA	18		NA											NA				54385226		2203	4300	6503	SO:0001583	missense			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157	23335	23335		WD repeat domain containing	13490	protein-coding gene	gene with protein product		613473			NA	10828621	Standard		XM_005266674	NA	Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.1610C>T	18.37:g.54385226C>T	ENSP00000254442:p.Ala537Val	NA	A7E2C8|Q86UX5|Q86VP2|Q96PS7	37	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806809	0.90623	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.69306	-0.39;-0.37	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.70378	0.3217	M	0.76002	2.32	0.80722	D	1	P;P	0.44946	0.846;0.813	B;B	0.43783	0.431;0.357	T	0.75508	-0.3293	10	0.72032	D	0.01	.	14.7507	0.69522	0.0:0.8555:0.1445:0.0	.	537;537	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	V	537	ENSP00000254442:A537V;ENSP00000350187:A537V	ENSP00000254442:A537V	A	+	2	0	WDR7	52536224	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.909000	0.69923	2.632000	0.89209	0.655000	0.94253	GCC	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256062.1		+	ENST00000254442.3	Missense_Mutation	SNP	18 : 54385226 - 54385226 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	708	124
CMYA5	202333	broad.mit.edu	37	5	79034343	79034343	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79034343C>A	ENST00000446378.2	+	2	9786	c.9755C>A	c.(9754-9756)tCt>tAt	p.S3252Y		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3252						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CATGACACATCTCTAACTCAA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	76	77			NA	NA	5		NA											NA				79034343		1891	4117	6008	SO:0001583	missense			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309	202333	202333		Tripartite motif containing / Tripartite motif containing, A-kinase anchor proteins, Fibronectin type III domain containing	14305	protein-coding gene	gene with protein product	genethonin-3, tripartite motif-containing 76	612193	chromosome 5 open reading frame 10	C5orf10	NA	14688250	Standard	NM_153610	NM_153610	NA	Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.9755C>A	5.37:g.79034343C>A	ENSP00000394770:p.Ser3252Tyr	NA	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	37	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450866	0.43531	.	.	ENSG00000164309	ENST00000446378	T	0.29397	1.57	5.78	4.9	0.64082	.	0.275088	0.26428	N	0.024434	T	0.39253	0.1071	L	0.60455	1.87	0.09310	N	1	D	0.61080	0.989	P	0.55667	0.781	T	0.40590	-0.9555	10	0.87932	D	0	.	4.5866	0.12285	0.1603:0.602:0.1544:0.0834	.	3252	Q8N3K9	CMYA5_HUMAN	Y	3252	ENSP00000394770:S3252Y	ENSP00000394770:S3252Y	S	+	2	0	CMYA5	79070099	0.070000	0.21116	1.000000	0.80357	0.990000	0.78478	0.886000	0.28241	1.426000	0.47256	0.655000	0.94253	TCT	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369497.1		+	ENST00000446378.2	Missense_Mutation	SNP	5 : 79034343 - 79034343 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	230	42
RNF32	140545	broad.mit.edu	37	7	156468458	156468458	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156468458C>T	ENST00000405335.1	+	9	1162	c.753C>T	c.(751-753)atC>atT	p.I251I	RNF32_ENST00000343665.4_Silent_p.I227I|RNF32_ENST00000311822.8_Silent_p.I251I|RNF32_ENST00000317955.5_Silent_p.I251I|RNF32_ENST00000392743.2_Silent_p.I251I|LMBR1_ENST00000430825.2_Intron|RNF32_ENST00000432459.2_Silent_p.I251I			Q9H0A6	RNF32_HUMAN	ring finger protein 32	251						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TTGCAGAAATCGATCAGTGCT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	147	149			NA	NA	7		NA											NA				156468458		2203	4300	6503	SO:0001819	synonymous_variant				CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982	140545	140545		RING-type (C3HC4) zinc fingers	17118	protein-coding gene	gene with protein product		610241			NA	11890671	Standard	NM_030936	NM_001184996	NA	Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.753C>T	7.37:g.156468458C>T		NA	Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	37	CCDS5944.1																																																																																			RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322660.2		+	ENST00000405335.1	Silent	SNP	7 : 156468458 - 156468458 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	693	116
SHROOM2	357	broad.mit.edu	37	X	9905433	9905433	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:9905433C>T	ENST00000380913.3	+	7	3937	c.3847C>T	c.(3847-3849)Ccc>Tcc	p.P1283S	SHROOM2_ENST00000418909.2_Missense_Mutation_p.P118S	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1283					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TGAGCCCCAGCCCCTGGGCAC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	18	18			NA	NA	X		NA											NA				9905433		2197	4297	6494	SO:0001583	missense			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950	357	357			630	protein-coding gene	gene with protein product		300103	apical protein, Xenopus laevis-like, apical protein-like (Xenopus laevis)	APXL	NA	7795590, 16615870	Standard	NM_001649	NM_001649	NA	Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3847C>T	X.37:g.9905433C>T	ENSP00000370299:p.Pro1283Ser	NA	B9EIQ7	37	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	C	3.144	-0.175695	0.06421	.	.	ENSG00000146950	ENST00000380913;ENST00000418909;ENST00000452575;ENST00000540923	T;T;T	0.43688	2.51;1.53;0.94	4.98	2.05	0.26809	.	1.337090	0.04799	N	0.433171	T	0.49830	0.1580	L	0.40543	1.245	0.09310	N	1	B;D	0.76494	0.004;0.999	B;D	0.63381	0.007;0.914	T	0.34329	-0.9833	10	0.22109	T	0.4	-4.5046	6.3194	0.21208	0.0:0.5636:0.2776:0.1588	.	118;1283	Q68DU3;Q13796	.;SHRM2_HUMAN	S	1283;118;118;118	ENSP00000370299:P1283S;ENSP00000415229:P118S;ENSP00000406724:P118S	ENSP00000370299:P1283S	P	+	1	0	SHROOM2	9865433	0.021000	0.18746	0.026000	0.17262	0.052000	0.14988	0.471000	0.22100	0.343000	0.23821	0.594000	0.82650	CCC	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055721.1		+	ENST00000380913.3	Missense_Mutation	SNP	X : 9905433 - 9905433 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	102	37
PSMC2	5701	broad.mit.edu	37	7	103008360	103008360	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103008360C>T	ENST00000435765.1	+	13	1572	c.1161C>T	c.(1159-1161)agC>agT	p.S387S	SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393735.2_Intron|PSMC2_ENST00000544811.1_Silent_p.S250S|SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000292644.3_Silent_p.S387S	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	387					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	p.S387S(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						AGATTAGAAGCGTCTGCACAG	0.408		NA											C	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	2e-04	NA	NA	NA	4e-04	0.95	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				1	Substitution - coding silent(1)	cervix(1)											98	95	96			NA	NA	7		NA											NA				103008360		2203	4300	6503	SO:0001819	synonymous_variant			D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057	5701	5701		Proteasome (prosome, macropain) subunits, ATPases / AAA-type	9548	protein-coding gene	gene with protein product	proteasome 26S subunit, ATPase, 2, mammalian suppressor of sgv-1 of yeast, protease 26S subunit 7, putative protein product of Nbla10058	154365			NA	9473509, 1377363	Standard	NM_002803	NM_002803	NA	Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.1161C>T	7.37:g.103008360C>T		NA	A4D0Q1|Q3LIA5|Q9UDI3	37	CCDS5731.1																																																																																			PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347922.1		+	ENST00000435765.1	Silent	SNP	7 : 103008360 - 103008360 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	600	94
MAP3K9	4293	broad.mit.edu	37	14	71267726	71267726	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71267726G>A	ENST00000554752.2	-	2	477	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C	MAP3K9_ENST00000381250.4_Missense_Mutation_p.R160C|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R160C	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	160	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CAGAAAGCACGATAGACCTTC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(114;411 1587 13539 28235 50070)							NA				0													97	92	94			NA	NA	14		NA											NA				71267726		2203	4300	6503	SO:0001583	missense			AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432	4293	4293		Mitogen-activated protein kinase cascade / Kinase kinase kinases	6861	protein-coding gene	gene with protein product		600136		MLK1	NA		Standard		NM_001284231	NA	Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.478C>T	14.37:g.71267726G>A	ENSP00000451612:p.Arg160Cys	NA	A3KN85|Q0D2G7|Q6EH31|Q9H2N5	37		.	.	.	.	.	.	.	.	.	.	G	23.3	4.395903	0.83011	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000381250	D;D	0.90004	-2.6;-2.6	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95487	0.8534	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.95031	0.8169	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	160;160	P80192;P80192-4	M3K9_HUMAN;.	C	160	ENSP00000451612:R160C;ENSP00000370649:R160C	ENSP00000005198:R160C	R	-	1	0	MAP3K9	70337479	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.503000	0.73699	2.941000	0.99782	0.655000	0.94253	CGT	MAP3K9-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000412550.2		-	ENST00000554752.2	Missense_Mutation	SNP	14 : 71267726 - 71267726 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	518	104
LMTK2	22853	broad.mit.edu	37	7	97822802	97822802	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97822802C>A	ENST00000297293.5	+	11	3318	c.3025C>A	c.(3025-3027)Cta>Ata	p.L1009I		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1009					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCACGAAGCGCTACTGGACTC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	106	104			NA	NA	7		NA											NA				97822802		2203	4300	6503	SO:0001583	missense			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715	22853	22853			17880	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 100	610989			NA	15005709	Standard	NM_014916	NM_014916	NA	Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.3025C>A	7.37:g.97822802C>A	ENSP00000297293:p.Leu1009Ile	NA	A4D272|Q75MG7|Q9UPS3	37	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	C	3.829	-0.036078	0.07497	.	.	ENSG00000164715	ENST00000297293	T	0.78126	-1.15	5.03	-2.43	0.06522	.	0.495348	0.19662	N	0.108944	T	0.66396	0.2785	L	0.48362	1.52	0.09310	N	1	P	0.42456	0.78	B	0.40636	0.335	T	0.61476	-0.7055	10	0.16896	T	0.51	.	12.0446	0.53473	0.0:0.6114:0.0:0.3886	.	1009	Q8IWU2	LMTK2_HUMAN	I	1009	ENSP00000297293:L1009I	ENSP00000297293:L1009I	L	+	1	2	LMTK2	97660738	0.012000	0.17670	0.000000	0.03702	0.004000	0.04260	0.226000	0.17776	-0.627000	0.05589	-0.312000	0.09012	CTA	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334560.1		+	ENST00000297293.5	Missense_Mutation	SNP	7 : 97822802 - 97822802 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	820	174
ATP2A3	489	broad.mit.edu	37	17	3844772	3844772	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3844772C>T	ENST00000397041.3	-	13	1849	c.1722G>A	c.(1720-1722)gaG>gaA	p.E574E	ATP2A3_ENST00000359983.3_Silent_p.E574E|ATP2A3_ENST00000309890.7_Silent_p.E574E|ATP2A3_ENST00000397035.3_Silent_p.E574E|ATP2A3_ENST00000352011.3_Silent_p.E574E|ATP2A3_ENST00000397043.3_Silent_p.E574E|ATP2A3_ENST00000397039.1_5'UTR	NM_005173.3|NM_174957.2	NP_005164.2|NP_777617.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	574					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCTCCATGTCCTCCTTCCTTG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(32;29 774 15719 37967)							NA				0													99	95	96			NA	NA	17		NA											NA				3844772		2203	4300	6503	SO:0001819	synonymous_variant				CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	489	489	3.6.3.8	ATPases / P-type	813	protein-coding gene	gene with protein product	sarcoplasmic/endoplasmic reticulum calcium ATPase 3, calcium pump 3	601929			NA	8809064	Standard	NM_174953	NM_005173	NA	Approved	SERCA3	uc002fwy.2	Q93084		ENST00000397041.3:c.1722G>A	17.37:g.3844772C>T		NA	A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q8TEX5|Q8TEX6	37	CCDS45579.1																																																																																			ATP2A3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438394.1		-	ENST00000397041.3	Silent	SNP	17 : 3844772 - 3844772 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	842	148
KIT	3815	broad.mit.edu	37	4	55569916	55569916	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55569916C>A	ENST00000288135.5	+	5	880	c.783C>A	c.(781-783)agC>agA	p.S261R		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	261	Ig-like C2-type 3.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AATATAATAGCTGGCATCACG	0.343		1	Mis, O		GIST, AML, TGCT, mastocytosis, mucosal melanoma	GIST, epithelioma	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	L, M, O, E	0													84	85	84			NA	NA	4		NA											NA				55569916		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404	3815	3815		CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	6342	protein-coding gene	gene with protein product		164920	piebald trait	PBT	NA	9027509	Standard		NM_001093772	NA	Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.783C>A	4.37:g.55569916C>A	ENSP00000288135:p.Ser261Arg	NA	Q99662|Q9UM99	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893441	0.52121	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	T;T	0.21031	2.03;2.03	5.24	4.41	0.53225	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.076622	0.56097	D	0.000031	T	0.41834	0.1176	M	0.68952	2.095	0.41590	D	0.988792	P;D	0.76494	0.807;0.999	B;D	0.74348	0.206;0.983	T	0.26121	-1.0112	10	0.40728	T	0.16	.	12.3268	0.55015	0.0:0.9225:0.0:0.0775	.	261;261	P10721-2;P10721	.;KIT_HUMAN	R	261	ENSP00000288135:S261R;ENSP00000390987:S261R	ENSP00000288135:S261R	S	+	3	2	KIT	55264673	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	2.267000	0.43329	1.468000	0.48064	0.650000	0.86243	AGC	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250618.1		+	ENST00000288135.5	Missense_Mutation	SNP	4 : 55569916 - 55569916 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	305	35
OR6K6	128371	broad.mit.edu	37	1	158725615	158725615	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158725615G>T	ENST00000368144.2	+	1	1106	c.1010G>T	c.(1009-1011)aGg>aTg	p.R337M		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	337					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TATCAGAAGAGGGCTGGTTGG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	84	82			NA	NA	1		NA											NA				158725615		2203	4300	6503	SO:0001583	missense			BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433	128371	128371		GPCR / Class A : Olfactory receptors	15033	protein-coding gene	gene with protein product					NA		Standard	NM_001005184	NM_001005184	NA	Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.1010G>T	1.37:g.158725615G>T	ENSP00000357126:p.Arg337Met	NA	B9EIM8|Q5VUU9|Q6IFR4	37	CCDS30904.1	.	.	.	.	.	.	.	.	.	.	G	10.00	1.233255	0.22626	.	.	ENSG00000180433	ENST00000368144	T	0.38401	1.14	5.26	1.03	0.20045	.	1.356070	0.05214	N	0.507211	T	0.06554	0.0168	N	0.12182	0.205	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.29336	-1.0015	10	0.33940	T	0.23	-0.0036	2.9484	0.05853	0.1606:0.4079:0.2922:0.1393	.	337	Q8NGW6	OR6K6_HUMAN	M	337	ENSP00000357126:R337M	ENSP00000357126:R337M	R	+	2	0	OR6K6	156992239	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	0.014000	0.13333	0.031000	0.15407	0.655000	0.94253	AGG	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059065.2		+	ENST00000368144.2	Missense_Mutation	SNP	1 : 158725615 - 158725615 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	488	126
ZNF676	163223	broad.mit.edu	37	19	22363338	22363338	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22363338T>G	ENST00000397121.2	-	3	1498	c.1181A>C	c.(1180-1182)aAa>aCa	p.K394T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTCTTCACATTTGTAGGGCTT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	79	78			NA	NA	19		NA											NA				22363338		2126	4263	6389	SO:0001583	missense			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109	163223	163223		Zinc fingers, C2H2-type	20429	protein-coding gene	gene with protein product					NA		Standard	NM_001001411	NM_001001411	NA	Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1181A>C	19.37:g.22363338T>G	ENSP00000380310:p.Lys394Thr	NA	A8MVX5	37	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	5.934	0.356324	0.11239	.	.	ENSG00000196109	ENST00000397121	T	0.58060	0.36	0.81	0.81	0.18732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.54351	0.1853	L	0.28740	0.885	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.39078	-0.9631	9	0.59425	D	0.04	.	4.4263	0.11505	0.0:0.0:0.3425:0.6574	.	394	Q8N7Q3	ZN676_HUMAN	T	394	ENSP00000380310:K394T	ENSP00000380310:K394T	K	-	2	0	ZNF676	22155178	0.000000	0.05858	0.023000	0.16930	0.023000	0.10783	-1.058000	0.03482	0.156000	0.19299	0.155000	0.16302	AAA	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464392.1		-	ENST00000397121.2	Missense_Mutation	SNP	19 : 22363338 - 22363338 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	572	73
ERF	2077	broad.mit.edu	37	19	42752816	42752816	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42752816C>T	ENST00000222329.4	-	4	1605	c.1448G>A	c.(1447-1449)cGc>cAc	p.R483H	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Missense_Mutation_p.R408H	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	483					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				CCGCTTAAAGCGTAGCTTGAG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	41	39			NA	NA	19		NA											NA				42752816		2203	4292	6495	SO:0001583	missense			U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722	2077	2077			3444	protein-coding gene	gene with protein product	Ets2 repressor factor	611888			NA	7588608, 9192842	Standard	NM_006494	XM_005258644	NA	Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1448G>A	19.37:g.42752816C>T	ENSP00000222329:p.Arg483His	NA	B2RAP1|Q59G38|Q9UPI7	37	CCDS12600.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448516	0.84101	.	.	ENSG00000105722	ENST00000222329;ENST00000440177	T;T	0.39229	2.07;1.09	4.12	4.12	0.48240	.	0.000000	0.33040	U	0.005349	T	0.58538	0.2129	L	0.55990	1.75	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.62656	-0.6808	10	0.87932	D	0	.	14.2641	0.66104	0.0:1.0:0.0:0.0	.	483	P50548	ERF_HUMAN	H	483;408	ENSP00000222329:R483H;ENSP00000388173:R408H	ENSP00000222329:R483H	R	-	2	0	ERF	47444656	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.317000	0.72862	2.297000	0.77311	0.561000	0.74099	CGC	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463684.1		-	ENST00000222329.4	Missense_Mutation	SNP	19 : 42752816 - 42752816 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	642	105
BAI1	575	broad.mit.edu	37	8	143607953	143607953	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143607953C>T	ENST00000517894.1	+	24	4257	c.3363C>T	c.(3361-3363)gaC>gaT	p.D1121D	BAI1_ENST00000323289.5_Silent_p.D1121D			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1121					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TGTCCAAAGACGGCATCACGG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	42	40			NA	NA	8		NA											NA				143607953		1981	4154	6135	SO:0001819	synonymous_variant			AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790	575	575		-, GPCR / Class B : Orphans	943	protein-coding gene	gene with protein product		602682			NA	9533023	Standard	NM_001702	NM_001702	NA	Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3363C>T	8.37:g.143607953C>T		NA		37																																																																																				BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000379963.3		+	ENST00000517894.1	Silent	SNP	8 : 143607953 - 143607953 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	141	19
DOCK9	23348	broad.mit.edu	37	13	99667822	99667822	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:99667822C>T	ENST00000448493.2	-	1	151	c.41G>A	c.(40-42)cGc>cAc	p.R14H	DOCK9_ENST00000339416.2_Intron			Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	0					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AAAAACGGTGCGGATGCCTTT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	80	83			NA	NA	13		NA											NA				99667822		876	1991	2867	SO:0001583	missense			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387	23348	23348		Pleckstrin homology (PH) domain containing	14132	protein-coding gene	gene with protein product	zizimin1	607325			NA	12172552, 12432077	Standard	NM_015296	NM_015296	NA	Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000448493.2:c.41G>A	13.37:g.99667822C>T	ENSP00000401958:p.Arg14His	NA	Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	37		.	.	.	.	.	.	.	.	.	.	C	15.66	2.898014	0.52227	.	.	ENSG00000088387	ENST00000448493	T	0.23147	1.92	5.91	5.03	0.67393	.	.	.	.	.	T	0.37919	0.1021	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.07635	-1.0762	5	.	.	.	.	13.0188	0.58773	0.0:0.9191:0.0:0.0809	.	.	.	.	H	14	ENSP00000401958:R14H	.	R	-	2	0	DOCK9	98465823	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.096000	0.57734	1.411000	0.46957	0.655000	0.94253	CGC	DOCK9-203	KNOWN	basic	protein_coding	NA	protein_coding			-	ENST00000448493.2	Missense_Mutation	SNP	13 : 99667822 - 99667822 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	216	13
CCDC158	339965	broad.mit.edu	37	4	77305391	77305391	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77305391G>A	ENST00000434846.2	-	5	746	c.576C>T	c.(574-576)atC>atT	p.I192I	CCDC158_ENST00000388914.3_Silent_p.I192I			Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	192										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						AGTCAACTAGGATTGACCGGA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	127	130			NA	NA	4		NA											NA				77305391		1895	4118	6013	SO:0001819	synonymous_variant			BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749	339965	339965			26374	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_001042784	NM_001042784	NA	Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000434846.2:c.576C>T	4.37:g.77305391G>A		NA	Q8IYQ1|Q8N7D4|Q8N7E3	37																																																																																				CCDC158-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000362692.2		-	ENST00000434846.2	Silent	SNP	4 : 77305391 - 77305391 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	634	119
GCAT	23464	broad.mit.edu	37	22	38208974	38208974	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38208974C>T	ENST00000323205.6	+	3	549	c.486C>T	c.(484-486)gaC>gaT	p.D162D	GCAT_ENST00000415371.1_3'UTR|GCAT_ENST00000248924.6_Silent_p.D136D	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	136					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	GCTGTTATGACGCCAACGCCG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	77	80			NA	NA	22		NA											NA				38208974		2203	4300	6503	SO:0001819	synonymous_variant			AF077740	CCDS13957.1, CCDS54527.1	22q13.1	2010-01-19	2010-01-19		ENSG00000100116	ENSG00000100116	23464	23464	2.3.1.29		4188	protein-coding gene	gene with protein product	2-amino-3-ketobutyrate coenzyme A ligase	607422	glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)		NA		Standard	NM_014291.2	NM_014291	NA	Approved	KBL	uc003aua.2	O75600	OTTHUMG00000150664	ENST00000323205.6:c.486C>T	22.37:g.38208974C>T		NA	Q96CA9	37	CCDS54527.1	.	.	.	.	.	.	.	.	.	.	C	4.950	0.176494	0.09443	.	.	ENSG00000100116	ENST00000451984	.	.	.	5.73	1.01	0.19927	.	.	.	.	.	T	0.56963	0.2021	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49466	-0.8937	4	.	.	.	-19.321	8.9862	0.35994	0.0:0.2989:0.0:0.7011	.	.	.	.	M	121	.	.	T	+	2	0	GCAT	36538920	1.000000	0.71417	0.998000	0.56505	0.464000	0.32679	0.826000	0.27407	0.112000	0.17975	-0.290000	0.09829	ACG	GCAT-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319507.1		+	ENST00000323205.6	Silent	SNP	22 : 38208974 - 38208974 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	462	72
ZNF479	90827	broad.mit.edu	37	7	57187947	57187947	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:57187947C>T	ENST00000331162.4	-	5	1445	c.1175G>A	c.(1174-1176)cGc>cAc	p.R392H		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TGCTGAGGAGCGCCTAAAGTC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG	1,3835		0,1,1917	21	19	20		1175	-1.9	0	7		20	1,8037		0,1,4018	no	missense	ZNF479	NM_033273.1	29	0,2,5935	TT,TC,CC	NA	0.0124,0.0261,0.0168	possibly-damaging	392/525	57187947	2,11872	1918	4019	5937	SO:0001583	missense			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177	90827	90827		Zinc fingers, C2H2-type, -	23258	protein-coding gene	gene with protein product					NA	11410164	Standard	XM_291202	NM_033273	NA	Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1175G>A	7.37:g.57187947C>T	ENSP00000333776:p.Arg392His	NA		37	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	c	0.139	-1.104087	0.01828	2.61E-4	1.24E-4	ENSG00000185177	ENST00000331162	T	0.36340	1.26	0.946	-1.89	0.07689	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16514	0.0397	N	0.21097	0.63	0.09310	N	1	D	0.60575	0.988	B	0.41466	0.358	T	0.17018	-1.0383	9	0.13108	T	0.6	.	2.1819	0.03877	0.2491:0.2114:0.0:0.5395	.	392	Q96JC4	ZN479_HUMAN	H	392	ENSP00000333776:R392H	ENSP00000333776:R392H	R	-	2	0	ZNF479	57191889	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.551000	0.06027	-1.510000	0.01796	-1.496000	0.00964	CGC	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345302.1		-	ENST00000331162.4	Missense_Mutation	SNP	7 : 57187947 - 57187947 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	503	60
RTF1	23168	broad.mit.edu	37	15	41745191	41745191	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41745191C>A	ENST00000389629.4	+	3	414	c.402C>A	c.(400-402)gcC>gcA	p.A134A	RTF1_ENST00000462276.1_3'UTR	NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	134					histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		ACAAAACTGCCTCCTCAGGCA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	74	76			NA	NA	15		NA											NA				41745191		2203	4300	6503	SO:0001819	synonymous_variant			D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815	23168	23168			28996	protein-coding gene	gene with protein product		611633	KIAA0252	KIAA0252	NA	15632063	Standard	NM_015138	NM_015138	NA	Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.402C>A	15.37:g.41745191C>A		NA	Q96BX6	37	CCDS32200.2																																																																																			RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258111.1		+	ENST00000389629.4	Silent	SNP	15 : 41745191 - 41745191 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	49
KCTD18	130535	broad.mit.edu	37	2	201355148	201355148	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201355148C>T	ENST00000359878.3	-	7	1466	c.956G>A	c.(955-957)cGc>cAc	p.R319H	KCTD18_ENST00000409157.1_Missense_Mutation_p.R319H	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	319						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TGCCTTTCTGCGGCTACCACT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	40	38			NA	NA	2		NA											NA				201355148		2203	4300	6503	SO:0001583	missense			AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729	130535	130535			26446	protein-coding gene	gene with protein product			potassium channel tetramerisation domain containing 18		NA		Standard	NM_152387	NM_152387	NA	Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.956G>A	2.37:g.201355148C>T	ENSP00000352941:p.Arg319His	NA	Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	37	CCDS2330.1	.	.	.	.	.	.	.	.	.	.	C	8.799	0.932449	0.18131	.	.	ENSG00000155729	ENST00000359878;ENST00000409157	T;T	0.34275	1.37;1.37	3.3	-0.435	0.12279	.	3.470240	0.00839	N	0.001735	T	0.18002	0.0432	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08722	-1.0708	10	0.25751	T	0.34	-0.0013	2.148	0.03792	0.2456:0.3222:0.0:0.4322	.	319	Q6PI47	KCD18_HUMAN	H	319	ENSP00000352941:R319H;ENSP00000386751:R319H	ENSP00000352941:R319H	R	-	2	0	KCTD18	201063393	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.366000	0.07563	-0.199000	0.10317	0.655000	0.94253	CGC	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256188.1		-	ENST00000359878.3	Missense_Mutation	SNP	2 : 201355148 - 201355148 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	397	107
PLIN4	729359	broad.mit.edu	37	19	4510584	4510584	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4510584C>A	ENST00000301286.3	-	3	3345	c.3346G>T	c.(3346-3348)Ggc>Tgc	p.G1116C		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1116						lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TCCTCCCTGCCTGGGGCGGCC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	36	34			NA	NA	19		NA											NA				4510584		2133	4232	6365	SO:0001583	missense			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676	729359	729359		Perilipins	29393	protein-coding gene	gene with protein product		613247	KIAA1881	KIAA1881	NA	11572484, 19638644	Standard	XM_170901	NM_001080400	NA	Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.3346G>T	19.37:g.4510584C>A	ENSP00000301286:p.Gly1116Cys	NA	A6NEI2	37	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817730	0.32145	.	.	ENSG00000167676	ENST00000301286	T	0.04706	3.57	3.85	-0.00379	0.14024	.	1.488490	0.04874	N	0.446490	T	0.09730	0.0239	N	0.24115	0.695	0.09310	N	1	D	0.76494	0.999	D	0.65573	0.936	T	0.34976	-0.9807	10	0.72032	D	0.01	-5.4226	5.6695	0.17715	0.4127:0.401:0.1863:0.0	.	1116	Q96Q06	PLIN4_HUMAN	C	1116	ENSP00000301286:G1116C	ENSP00000301286:G1116C	G	-	1	0	PLIN4	4461584	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.248000	0.18198	0.117000	0.18138	-0.295000	0.09555	GGC	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395095.1		-	ENST00000301286.3	Missense_Mutation	SNP	19 : 4510584 - 4510584 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	119	23
NUP214	8021	broad.mit.edu	37	9	134073818	134073818	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134073818C>A	ENST00000359428.5	+	29	5081	c.4937C>A	c.(4936-4938)gCt>gAt	p.A1646D	NUP214_ENST00000451030.1_Missense_Mutation_p.A1647D|NUP214_ENST00000411637.2_Missense_Mutation_p.A1636D|NUP214_ENST00000483497.2_Missense_Mutation_p.A472D			P35658	NU214_HUMAN	nucleoporin 214kDa	1646	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TCCGTCTTTGCTCAGCCTCCT	0.597		NA	T	DEK, SET, ABL1	AML, T-ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(4;24 48 25510 30394 32571)		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0													138	112	121			NA	NA	9		NA											NA				134073818		2203	4300	6503	SO:0001583	missense			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883	8021	8021			8064	protein-coding gene	gene with protein product	nuclear pore complex protein Nup214, CAN protein, putative oncogene	114350	nucleoporin 214kD (CAIN)		NA	8108440, 2370860	Standard	NM_005085	NM_005085	NA	Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.4937C>A	9.37:g.134073818C>A	ENSP00000352400:p.Ala1646Asp	NA	A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	37	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.057623	0.55325	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497;ENST00000531600;ENST00000541688	T;T;T;T;T	0.47177	1.45;0.89;0.89;0.89;0.85	5.67	5.67	0.87782	.	0.356872	0.20531	N	0.090505	T	0.32194	0.0821	N	0.08118	0	0.09310	N	0.999999	P;B;P;B;B	0.37276	0.589;0.435;0.589;0.152;0.152	B;B;B;B;B	0.35770	0.21;0.153;0.153;0.051;0.051	T	0.31364	-0.9946	10	0.46703	T	0.11	-6.1278	18.3398	0.90302	0.0:1.0:0.0:0.0	.	472;1075;1240;1636;1646	B7ZAV2;F5H131;Q5JUP9;P35658-4;P35658	.;.;.;.;NU214_HUMAN	D	1646;1636;1647;1625;1240;1075;472;423;423	ENSP00000352400:A1646D;ENSP00000396576:A1636D;ENSP00000405014:A1647D;ENSP00000436793:A472D;ENSP00000435364:A423D	ENSP00000352400:A1646D	A	+	2	0	NUP214	133063639	0.072000	0.21174	0.897000	0.35233	0.793000	0.44817	1.713000	0.37951	2.661000	0.90470	0.462000	0.41574	GCT	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054694.2		+	ENST00000359428.5	Missense_Mutation	SNP	9 : 134073818 - 134073818 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	640	117
NRXN1	9378	broad.mit.edu	37	2	50724826	50724826	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:50724826G>A	ENST00000404971.1	-	15	3983	c.2644C>T	c.(2644-2646)Ctg>Ttg	p.L882L	NRXN1_ENST00000406316.2_Silent_p.L842L|NRXN1_ENST00000402717.3_Silent_p.L834L|NRXN1_ENST00000405472.3_Silent_p.L834L|NRXN1_ENST00000401669.2_Silent_p.L842L|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Silent_p.L842L	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	842	Laminin G-like 4.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGGAACTCCAGCCTAGTATGA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	76	78			NA	NA	2		NA											NA				50724826		1907	4119	6026	SO:0001819	synonymous_variant			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915	9378	9378			8008	protein-coding gene	gene with protein product		600565			NA		Standard		NM_001135659	NA	Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000404971.1:c.2644C>T	2.37:g.50724826G>A		NA	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	37	CCDS46282.1																																																																																			NRXN1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323894.3		-	ENST00000404971.1	Silent	SNP	2 : 50724826 - 50724826 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	377	64
CXorf67	340602	broad.mit.edu	37	X	51150956	51150956	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:51150956C>A	ENST00000342995.2	+	1	1190	c.1088C>A	c.(1087-1089)tCt>tAt	p.S363Y						chromosome X open reading frame 67	NA										breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						CGCTCTCTGTCTGGGTCAGCT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	38	40			NA	NA	X		NA											NA				51150956		2203	4300	6503	SO:0001583	missense			BC046248		Xp11.22	2014-04-30			ENSG00000187690	ENSG00000187690	340602	340602			33738	protein-coding gene	gene with protein product					NA	23959973	Standard	NM_203407	XR_113306	NA	Approved			Q86X51	OTTHUMG00000187481	ENST00000342995.2:c.1088C>A	X.37:g.51150956C>A	ENSP00000342680:p.Ser363Tyr	NA		37		.	.	.	.	.	.	.	.	.	.	c	8.941	0.965848	0.18659	.	.	ENSG00000187690	ENST00000342995	T	0.53640	0.61	3.23	1.34	0.21922	.	0.454593	0.16449	N	0.213970	T	0.49966	0.1588	.	.	.	0.09310	N	1	D	0.59767	0.986	P	0.56865	0.808	T	0.32903	-0.9889	9	0.36615	T	0.2	-2.7354	4.8626	0.13592	0.2113:0.6608:0.0:0.128	.	363	Q86X51	CX067_HUMAN	Y	363	ENSP00000342680:S363Y	ENSP00000342680:S363Y	S	+	2	0	CXorf67	51167696	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.531000	0.06171	0.219000	0.20840	0.597000	0.82753	TCT	CXorf67-201	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding			+	ENST00000342995.2	Missense_Mutation	SNP	X : 51150956 - 51150956 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	236	71
RPL34	6164	broad.mit.edu	37	4	109546294	109546294	+	Missense_Mutation	SNP	G	G	A	rs148986705		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:109546294G>A	ENST00000394668.2	+	5	346	c.280G>A	c.(280-282)Gct>Act	p.A94T	RPL34_ENST00000506397.1_Missense_Mutation_p.A94T|RPL34_ENST00000502534.1_Missense_Mutation_p.A94T|RPL34_ENST00000394667.3_Missense_Mutation_p.A94T|RPL34_ENST00000394665.1_Missense_Mutation_p.A94T	NM_033625.2	NP_296374.1	P49207	RL34_HUMAN	ribosomal protein L34	94					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			kidney(2)|lung(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000286)		GATCAAGCGTGCTTTCCTTAT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA,THR/ALA	0,4406		0,0,2203	46	48	47		280,280	4.6	1	4	dbSNP_134	47	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RPL34	NM_000995.3,NM_033625.2	58,58	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging	94/118,94/118	109546294	1,13005	2203	4300	6503	SO:0001583	missense			AB007181	CCDS3680.1	4q25	2011-04-06			ENSG00000109475	ENSG00000109475	6164	6164		L ribosomal proteins	10340	protein-coding gene	gene with protein product					NA	9582194, 7490091	Standard	NM_033625, NM_000995	XM_005263172	NA	Approved	L34	uc003hyz.3	P49207	OTTHUMG00000131839	ENST00000394668.2:c.280G>A	4.37:g.109546294G>A	ENSP00000378163:p.Ala94Thr	NA	Q6FG66|Q9BUZ2	37	CCDS3680.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025344	0.93518	0.0	1.16E-4	ENSG00000109475	ENST00000394667;ENST00000502534;ENST00000394665;ENST00000506397;ENST00000394668	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.86347	0.5911	H	0.94183	3.505	0.80722	D	1	D	0.67145	0.996	D	0.68943	0.961	D	0.90789	0.4685	9	0.87932	D	0	.	17.4109	0.87485	0.0:0.0:1.0:0.0	.	94	P49207	RL34_HUMAN	T	94	.	ENSP00000378160:A94T	A	+	1	0	RPL34	109765743	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.364000	0.97136	2.278000	0.76064	0.655000	0.94253	GCT	RPL34-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363468.1		+	ENST00000394668.2	Missense_Mutation	SNP	4 : 109546294 - 109546294 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	173	20
SLC9A6	10479	broad.mit.edu	37	X	135067752	135067752	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135067752C>A	ENST00000370695.4	+	1	126	c.91C>A	c.(91-93)Ctc>Atc	p.L31I	SLC9A6_ENST00000370701.1_Intron|SLC9A6_ENST00000370698.3_Missense_Mutation_p.L31I	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	31					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CCTTTGGTTGCTCCTCGCAGT	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	28	27			NA	NA	X		NA											NA				135067752		2203	4296	6499	SO:0001583	missense			AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689	10479	10479		Solute carriers	11079	protein-coding gene	gene with protein product		300231	solute carrier family 9 (sodium/hydrogen exchanger), isoform 6, solute carrier family 9 (sodium/hydrogen exchanger), member 6		NA	9507001	Standard	NM_006359	NM_001042537	NA	Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370695.4:c.91C>A	X.37:g.135067752C>A	ENSP00000359729:p.Leu31Ile	NA	Q5JPP9	37	CCDS44003.1	.	.	.	.	.	.	.	.	.	.	c	15.28	2.786621	0.49997	.	.	ENSG00000198689	ENST00000370698;ENST00000370695	T;T	0.58060	0.39;0.36	4.18	3.29	0.37713	.	0.425334	0.22521	N	0.058974	T	0.35128	0.0921	L	0.27053	0.805	0.31981	N	0.60592	B;B	0.22683	0.073;0.039	B;B	0.18561	0.022;0.014	T	0.38308	-0.9667	10	0.41790	T	0.15	.	7.4117	0.27021	0.0:0.7844:0.0:0.2156	.	31;31	Q92581-2;Q92581	.;SL9A6_HUMAN	I	31	ENSP00000359732:L31I;ENSP00000359729:L31I	ENSP00000359729:L31I	L	+	1	0	SLC9A6	134895418	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	2.741000	0.47426	1.913000	0.55393	0.373000	0.22412	CTC	SLC9A6-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058451.1		+	ENST00000370695.4	Missense_Mutation	SNP	X : 135067752 - 135067752 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	217	70
CSNK2A1	1457	broad.mit.edu	37	20	478425	478425	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:478425C>A	ENST00000217244.3	-	7	742		c.e7-1		CSNK2A1_ENST00000400217.2_Splice_Site|CSNK2A1_ENST00000400227.3_Splice_Site|CSNK2A1_ENST00000349736.5_Splice_Site	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	NA					axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			GGTACAATTGCTGTTAAAGAC	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	87	87			NA	NA	20		NA											NA				478425		2203	4300	6503	SO:0001630	splice_region_variant			M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266	1457	1457			2457	protein-coding gene	gene with protein product		115440			NA	2174700, 1766873	Standard	NM_001895	NM_177559	NA	Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.367-1G>T	20.37:g.478425C>A		NA	D3DVV8|P19138|P20426|Q14013|Q5U065	37	CCDS13003.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680195	0.88542	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4678	0.90762	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSNK2A1	426425	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.651000	0.83577	2.847000	0.97988	0.591000	0.81541	.	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077466.1	Intron	-	ENST00000217244.3	Splice_Site	SNP	20 : 478425 - 478425 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	279	42
HEATR1	55127	broad.mit.edu	37	1	236749565	236749565	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236749565G>T	ENST00000366582.3	-	15	2017	c.1903C>A	c.(1903-1905)Cct>Act	p.P635T	HEATR1_ENST00000366581.2_Missense_Mutation_p.P635T	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	635					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTTAATAGAGGGTGCAGGGAG	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	42	41			NA	NA	1		NA											NA				236749565		2202	4300	6502	SO:0001583	missense			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285	55127	55127			25517	protein-coding gene	gene with protein product	UTP10, small subunit (SSU) processome component, homolog (yeast)				NA	17699751	Standard	XM_375853	NM_018072	NA	Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.1903C>A	1.37:g.236749565G>T	ENSP00000355541:p.Pro635Thr	NA	Q5T3Q8|Q6P197|Q9NW23	37	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615465	0.66672	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.62105	0.05;0.05	5.42	4.51	0.55191	Armadillo-type fold (1);	0.103033	0.64402	D	0.000002	T	0.75443	0.3850	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.74890	-0.3510	10	0.35671	T	0.21	.	14.2206	0.65823	0.0721:0.0:0.9279:0.0	.	635	Q9H583	HEAT1_HUMAN	T	635	ENSP00000355541:P635T;ENSP00000355540:P635T	ENSP00000355540:P635T	P	-	1	0	HEATR1	234816188	1.000000	0.71417	0.504000	0.27639	0.963000	0.63663	5.780000	0.68956	1.423000	0.47198	0.563000	0.77884	CCT	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096635.1		-	ENST00000366582.3	Missense_Mutation	SNP	1 : 236749565 - 236749565 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	281	44
PRKD2	25865	broad.mit.edu	37	19	47194999	47194999	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47194999G>T	ENST00000291281.4	-	12	1920	c.1695C>A	c.(1693-1695)gtC>gtA	p.V565V	PRKD2_ENST00000600194.1_Silent_p.V408V|PRKD2_ENST00000601806.1_Silent_p.V408V|PRKD2_ENST00000595515.1_Silent_p.V565V|PRKD2_ENST00000433867.1_Silent_p.V565V			Q9BZL6	KPCD2_HUMAN	protein kinase D2	565	Protein kinase.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CACCTCCATAGACCACTCCAA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	87	88			NA	NA	19		NA											NA				47194999		2203	4300	6503	SO:0001819	synonymous_variant			AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287	25865	25865		Pleckstrin homology (PH) domain containing	17293	protein-coding gene	gene with protein product		607074			NA	11042152, 11062248	Standard	NM_016457	NM_001079880	NA	Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1695C>A	19.37:g.47194999G>T		NA	Q8TB08|Q9P0T6|Q9Y3X8	37	CCDS12689.1																																																																																			PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466591.1		-	ENST00000291281.4	Silent	SNP	19 : 47194999 - 47194999 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	542	84
HCN1	348980	broad.mit.edu	37	5	45262687	45262687	+	Missense_Mutation	SNP	G	G	A	rs142280884	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:45262687G>A	ENST00000303230.4	-	8	2066	c.2009C>T	c.(2008-2010)gCg>gTg	p.A670V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	670						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CAGGCTGGTCGCTGTGTACAC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	135	133	134		2009	5.4	0.2	5	dbSNP_134	134	2,8598	2.2+/-6.3	0,2,4298	yes	missense	HCN1	NM_021072.3	64	0,3,6500	AA,AG,GG	NA	0.0233,0.0227,0.0231	benign	670/891	45262687	3,13003	2203	4300	6503	SO:0001583	missense			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588	348980	348980		Voltage-gated ion channels / Cyclic nucleotide-regulated channels	4845	protein-coding gene	gene with protein product		602780		BCNG1	NA	9405696, 9630217, 16382102	Standard	NM_021072	NM_021072	NA	Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2009C>T	5.37:g.45262687G>A	ENSP00000307342:p.Ala670Val	NA		37	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.534289	0.27475	2.27E-4	2.33E-4	ENSG00000164588	ENST00000303230	D	0.97620	-4.46	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000010	D	0.93432	0.7905	L	0.34521	1.04	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	D	0.85769	0.1354	10	0.46703	T	0.11	.	10.5844	0.45273	0.0731:0.1347:0.7923:0.0	.	670	O60741	HCN1_HUMAN	V	670	ENSP00000307342:A670V	ENSP00000307342:A670V	A	-	2	0	HCN1	45298444	0.019000	0.18553	0.244000	0.24202	0.967000	0.64934	1.899000	0.39818	2.528000	0.85240	0.563000	0.77884	GCG	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253847.1		-	ENST00000303230.4	Missense_Mutation	SNP	5 : 45262687 - 45262687 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	70
TRIM39	56658	broad.mit.edu	37	6	30297258	30297258	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30297258G>A	ENST00000376659.5	+	3	762	c.164G>A	c.(163-165)cGc>cAc	p.R55H	TRIM39_ENST00000396551.3_Missense_Mutation_p.R55H|TRIM39_ENST00000396548.1_Missense_Mutation_p.R55H|TRIM39_ENST00000540416.1_Missense_Mutation_p.R55H|TRIM39_ENST00000396547.1_Missense_Mutation_p.R55H|TRIM39_ENST00000376656.4_Missense_Mutation_p.R55H	NM_172016.2	NP_742013.1			tripartite motif containing 39	NA										ovary(3)	3						TGCATCACCCGCTGGTGGGAG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													173	158	163			NA	NA	6		NA											NA				30297258		1509	2708	4217	SO:0001583	missense			BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599	56658	56658		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	10065	protein-coding gene	gene with protein product		605700	ring finger protein 23, tripartite motif-containing 39	RNF23	NA	11006080	Standard	NM_172016	NM_021253	NA	Approved			Q9HCM9	OTTHUMG00000031066	ENST00000376659.5:c.164G>A	6.37:g.30297258G>A	ENSP00000365847:p.Arg55His	NA		37	CCDS34378.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.782143	0.70222	.	.	ENSG00000204599	ENST00000458516;ENST00000440271;ENST00000396551;ENST00000376656;ENST00000545104;ENST00000540416;ENST00000449040;ENST00000428728;ENST00000396548;ENST00000428404;ENST00000376659;ENST00000396547	D;D;D;D;D;T;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91;2.18;-1.91;-1.91;-1.91;-1.91	5.15	2.36	0.29203	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.53938	D	0.000043	T	0.80560	0.4646	L	0.52126	1.63	0.26498	N	0.974821	D;B	0.76494	0.999;0.201	D;B	0.63192	0.912;0.064	T	0.71314	-0.4630	10	0.41790	T	0.15	.	7.3567	0.26723	0.3472:0.0:0.6528:0.0	.	55;55	Q9HCM9;Q9HCM9-2	TRI39_HUMAN;.	H	55	ENSP00000405928:R55H;ENSP00000394768:R55H;ENSP00000379800:R55H;ENSP00000365844:R55H;ENSP00000439400:R55H;ENSP00000406019:R55H;ENSP00000379797:R55H;ENSP00000405498:R55H;ENSP00000365847:R55H;ENSP00000379796:R55H	ENSP00000365844:R55H	R	+	2	0	TRIM39	30405237	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	0.462000	0.21956	0.754000	0.32968	0.561000	0.74099	CGC	TRIM39-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256045.1		+	ENST00000376659.5	Missense_Mutation	SNP	6 : 30297258 - 30297258 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	767	146
UGT3A2	167127	broad.mit.edu	37	5	36038073	36038073	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36038073C>T	ENST00000513300.1	-	5	1111	c.1019G>A	c.(1018-1020)aGc>aAc	p.S340N	UGT3A2_ENST00000282507.3_Missense_Mutation_p.S374N|UGT3A2_ENST00000545528.1_Missense_Mutation_p.S72N	NM_001168316.1	NP_001161788.1	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	374						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTCCATTATGCTATTCTGCCC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	81	80			NA	NA	5		NA											NA				36038073		2203	4300	6503	SO:0001583	missense				CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671	167127	167127		UDP glucuronosyltransferases	27266	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_174914	NM_174914	NA	Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000513300.1:c.1019G>A	5.37:g.36038073C>T	ENSP00000427404:p.Ser340Asn	NA	Q6UXC4|Q8NBP2	37	CCDS54842.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707516	0.68615	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;T	0.76578	-1.03;-1.03;2.04	3.32	3.32	0.38043	.	0.000000	0.85682	U	0.000000	D	0.90793	0.7109	H	0.95402	3.665	0.41111	D	0.985742	P;D	0.89917	0.89;1.0	P;D	0.76071	0.758;0.987	D	0.93692	0.7008	10	0.87932	D	0	.	14.5961	0.68407	0.0:1.0:0.0:0.0	.	340;374	E9PFK7;Q3SY77	.;UD3A2_HUMAN	N	374;340;72	ENSP00000282507:S374N;ENSP00000427404:S340N;ENSP00000445367:S72N	ENSP00000282507:S374N	S	-	2	0	UGT3A2	36073830	0.866000	0.29940	0.464000	0.27143	0.662000	0.39071	4.879000	0.63100	2.159000	0.67721	0.563000	0.77884	AGC	UGT3A2-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367177.1		-	ENST00000513300.1	Missense_Mutation	SNP	5 : 36038073 - 36038073 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	524	97
HNRNPUL2	221092	broad.mit.edu	37	11	62482812	62482812	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62482812G>T	ENST00000301785.5	-	14	2395	c.2203C>A	c.(2203-2205)Cga>Aga	p.R735R	HNRNPUL2-BSCL2_ENST00000403734.2_Intron	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	735	Tyr-rich.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CTGTAGTATCGGTCTCTGTCC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	147	145			NA	NA	11		NA											NA				62482812		1959	4127	6086	SO:0001819	synonymous_variant				CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753	221092	221092			25451	protein-coding gene	gene with protein product				HNRPUL2	NA		Standard	XM_495877	NM_001079559	NA	Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.2203C>A	11.37:g.62482812G>T		NA	Q8N3B3	37	CCDS41659.1																																																																																			HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396208.2		-	ENST00000301785.5	Silent	SNP	11 : 62482812 - 62482812 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	586	109
BTBD9	114781	broad.mit.edu	37	6	38312855	38312855	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38312855A>C	ENST00000419706.2	-	7	1337	c.1079T>G	c.(1078-1080)gTt>gGt	p.V360G	BTBD9_ENST00000481247.1_Missense_Mutation_p.V390G|BTBD9_ENST00000408958.1_Missense_Mutation_p.V322G|BTBD9_ENST00000314100.6_Missense_Mutation_p.V322G|BTBD9_ENST00000403056.1_Missense_Mutation_p.V390G			Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	390					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						GTGAGTCCCAACAATTCGAAT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	85	87			NA	NA	6		NA											NA				38312855		1836	4097	5933	SO:0001583	missense				CCDS43458.1, CCDS47418.1, CCDS54998.1	6p21	2014-01-28			ENSG00000183826	ENSG00000183826	114781	114781		BTB/POZ domain containing	21228	protein-coding gene	gene with protein product		611237			NA	11572484	Standard	NM_152733	NM_052893	NA	Approved	KIAA1880, dJ322I12.1	uc010jwx.3	Q96Q07	OTTHUMG00000014634	ENST00000419706.2:c.1079T>G	6.37:g.38312855A>C	ENSP00000415365:p.Val360Gly	NA	Q96M00	37	CCDS54998.1	.	.	.	.	.	.	.	.	.	.	A	13.47	2.245619	0.39697	.	.	ENSG00000183826	ENST00000314100;ENST00000481247;ENST00000419706;ENST00000403056;ENST00000408958	D;D;T;D;D	0.98296	-4.85;-4.85;-1.23;-4.85;-4.85	5.45	5.45	0.79879	Coagulation factor 5/8 C-terminal type domain (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.98924	0.9635	M	0.86953	2.85	0.80722	D	1	B;D	0.59357	0.003;0.985	B;D	0.73708	0.003;0.981	D	0.99840	1.1061	10	0.87932	D	0	.	15.5183	0.75842	1.0:0.0:0.0:0.0	.	360;390	Q494V9;Q96Q07	.;BTBD9_HUMAN	G	322;390;360;390;322	ENSP00000323408:V322G;ENSP00000418751:V390G;ENSP00000415365:V360G;ENSP00000386121:V390G;ENSP00000386211:V322G	ENSP00000323408:V322G	V	-	2	0	BTBD9	38420833	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.179000	0.89692	2.073000	0.62155	0.383000	0.25322	GTT	BTBD9-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040436.3		-	ENST00000419706.2	Missense_Mutation	SNP	6 : 38312855 - 38312855 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	343	65
JAK3	3718	broad.mit.edu	37	19	17946822	17946822	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17946822C>A	ENST00000527670.1	-	13	1854	c.1825G>T	c.(1825-1827)Gac>Tac	p.D609Y	JAK3_ENST00000534444.1_Missense_Mutation_p.D609Y|JAK3_ENST00000458235.1_Missense_Mutation_p.D609Y			P52333	JAK3_HUMAN	Janus kinase 3	609	Protein kinase 1.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						AGATACATGTCTATGGCCCCC	0.582		2	Mis		acute megakaryocytic leukemia, ETP ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0													104	93	97			NA	NA	19		NA											NA				17946822		2203	4300	6503	SO:0001583	missense			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	3718	3718	2.7.10.1		6193	protein-coding gene	gene with protein product	tyrosine-protein kinase JAK3, leukocyte Janus kinase	600173			NA	8921370, 9226382	Standard	NM_000215	NM_000215	NA	Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1825G>T	19.37:g.17946822C>A	ENSP00000432511:p.Asp609Tyr	NA	Q13259|Q13260|Q13611|Q99699|Q9Y6S2	37	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852453	0.51270	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	T;T;T	0.62105	0.05;0.05;0.05	4.96	4.96	0.65561	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80592	0.4652	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.83983	0.0333	10	0.87932	D	0	-38.7413	15.7013	0.77544	0.0:1.0:0.0:0.0	.	609;609	P52333-2;P52333	.;JAK3_HUMAN	Y	609	ENSP00000391676:D609Y;ENSP00000432511:D609Y;ENSP00000436421:D609Y	ENSP00000391676:D609Y	D	-	1	0	JAK3	17807822	1.000000	0.71417	0.721000	0.30653	0.031000	0.12232	7.320000	0.79064	2.294000	0.77228	0.455000	0.32223	GAC	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385549.1		-	ENST00000527670.1	Missense_Mutation	SNP	19 : 17946822 - 17946822 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	432	92
EMR2	30817	broad.mit.edu	37	19	14877892	14877892	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14877892G>T	ENST00000315576.3	-	6	836	c.385C>A	c.(385-387)Ctc>Atc	p.L129I	EMR2_ENST00000601345.1_Missense_Mutation_p.L129I|EMR2_ENST00000594294.1_Missense_Mutation_p.L129I|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000392965.3_Missense_Mutation_p.L129I|EMR2_ENST00000353005.1_Intron|EMR2_ENST00000392964.3_5'UTR|EMR2_ENST00000392967.2_Missense_Mutation_p.L129I|EMR2_ENST00000596991.2_Missense_Mutation_p.L129I|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000346057.1_Missense_Mutation_p.L129I|EMR2_ENST00000353876.1_Intron	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	129	EGF-like 3; calcium-binding.				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CTTTTACAGAGCCTTGGGTTC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	77	79			NA	NA	19		NA											NA				14877892		2203	4298	6501	SO:0001583	missense			AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507	30817	30817		CD molecules, -, GPCR / Class B : Orphans	3337	protein-coding gene	gene with protein product		606100	egf-like module containing, mucin-like, hormone receptor-like sequence 2		NA		Standard		NM_013447	NA	Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.385C>A	19.37:g.14877892G>T	ENSP00000319883:p.Leu129Ile	NA	E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	37	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	G	2.433	-0.330439	0.05314	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000360222;ENST00000392965;ENST00000392962	D;D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93;-2.93	3.72	-7.44	0.01379	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.78194	0.4245	N	0.11313	0.125	0.09310	N	1	B;B;B;B	0.15473	0.004;0.008;0.013;0.007	B;B;B;B	0.17098	0.005;0.007;0.017;0.006	T	0.64980	-0.6279	9	0.27785	T	0.31	.	5.1675	0.15094	0.0949:0.4357:0.3466:0.1228	.	129;129;129;129	E7ESD7;Q9UHX3-3;Q9UHX3;Q9UHX3-2	.;.;EMR2_HUMAN;.	I	129	ENSP00000319883:L129I;ENSP00000376694:L129I;ENSP00000263380:L129I;ENSP00000376692:L129I;ENSP00000376689:L129I	ENSP00000319883:L129I	L	-	1	0	EMR2	14738892	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-5.110000	0.00150	-2.490000	0.00517	-0.429000	0.05907	CTC	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466502.2		-	ENST00000315576.3	Missense_Mutation	SNP	19 : 14877892 - 14877892 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	572	21
PTPN14	5784	broad.mit.edu	37	1	214546067	214546067	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214546067A>G	ENST00000366956.5	-	16	3217	c.3023T>C	c.(3022-3024)gTc>gCc	p.V1008A	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	1008	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CTCTGCAGTGACCATGGCAAT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(92;557 1424 24372 34121 40073)							NA				0													156	138	144			NA	NA	1		NA											NA				214546067		2203	4300	6503	SO:0001583	missense			X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104	5784	5784		Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor	9647	protein-coding gene	gene with protein product		603155			NA	7733990	Standard	NM_005401	NM_005401	NA	Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.3023T>C	1.37:g.214546067A>G	ENSP00000355923:p.Val1008Ala	NA	Q5VSI0	37	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.012882	0.75161	.	.	ENSG00000152104	ENST00000366956	T	0.14266	2.52	5.4	5.4	0.78164	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.063634	0.64402	D	0.000007	T	0.31136	0.0787	L	0.46947	1.48	0.80722	D	1	D	0.69078	0.997	D	0.74348	0.983	T	0.01532	-1.1331	10	0.62326	D	0.03	.	15.716	0.77670	1.0:0.0:0.0:0.0	.	1008	Q15678	PTN14_HUMAN	A	1008	ENSP00000355923:V1008A	ENSP00000355923:V1008A	V	-	2	0	PTPN14	212612690	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	9.097000	0.94193	2.167000	0.68274	0.528000	0.53228	GTC	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089918.2		-	ENST00000366956.5	Missense_Mutation	SNP	1 : 214546067 - 214546067 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	763	131
CAPN15	6650	broad.mit.edu	37	16	599309	599309	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:599309G>A	ENST00000219611.2	+	6	2043	c.1680G>A	c.(1678-1680)gtG>gtA	p.V560V	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1			calpain 15	NA											NA						CCCTGGCGGTGCTGGCGGAGC	0.741		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													10	10	10			NA	NA	16		NA											NA				599309		2122	4233	6355	SO:0001819	synonymous_variant			U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326	6650	6650			11182	protein-coding gene	gene with protein product		603267	small optic lobes (Drosophila) homolog, small optic lobes homolog (Drosophila)	SOLH	NA	9722942	Standard	NM_005632	NM_005632	NA	Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.1680G>A	16.37:g.599309G>A		NA		37	CCDS10410.1																																																																																			CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239271.1		+	ENST00000219611.2	Silent	SNP	16 : 599309 - 599309 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	101	25
STXBP5	134957	broad.mit.edu	37	6	147632647	147632647	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147632647G>A	ENST00000367481.3	+	11	1237	c.1129G>A	c.(1129-1131)Gac>Aac	p.D377N	STXBP5_ENST00000367480.3_Missense_Mutation_p.D377N|STXBP5_ENST00000179882.6_Missense_Mutation_p.D48N|STXBP5_ENST00000321680.6_Missense_Mutation_p.D377N	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	377					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AGTACTTATAGACCTTGCACA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	126	125			NA	NA	6		NA											NA				147632647		2203	4299	6502	SO:0001583	missense			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506	NA	134957		WD repeat domain containing	19665	protein-coding gene	gene with protein product		604586			NA	9620695, 14767561	Standard		NM_139244	NA	Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000367481.3:c.1129G>A	6.37:g.147632647G>A	ENSP00000356451:p.Asp377Asn	NA	Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	37	CCDS5211.1	.	.	.	.	.	.	.	.	.	.	G	33	5.284916	0.95517	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.27890	2.51;2.51;2.03;1.64	5.64	5.64	0.86602	WD40 repeat-like-containing domain (2);Lethal giant larvae homologue 2 (1);	0.000000	0.85682	D	0.000000	T	0.59500	0.2198	M	0.88704	2.975	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.83275	0.961;0.99;0.996	T	0.66999	-0.5781	10	0.87932	D	0	.	19.6979	0.96034	0.0:0.0:1.0:0.0	.	377;377;48	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	N	377;377;377;48	ENSP00000356451:D377N;ENSP00000321826:D377N;ENSP00000356450:D377N;ENSP00000179882:D48N	ENSP00000179882:D48N	D	+	1	0	STXBP5	147674340	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.750000	0.98875	2.660000	0.90430	0.561000	0.74099	GAC	STXBP5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042605.1		+	ENST00000367481.3	Missense_Mutation	SNP	6 : 147632647 - 147632647 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	222	36
HRC	3270	broad.mit.edu	37	19	49657295	49657295	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49657295C>T	ENST00000252825.4	-	1	1386	c.1200G>A	c.(1198-1200)aaG>aaA	p.K400K	HRC_ENST00000595625.1_Silent_p.K400K	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	400					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CTTCATCACTCTTGTGGCCTC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(37;75 1097 24567 25669 30645)							NA				0													118	110	113			NA	NA	19		NA											NA				49657295		2203	4300	6503	SO:0001819	synonymous_variant				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528	3270	3270			5178	protein-coding gene	gene with protein product		142705	histidine-rich calcium-binding protein		NA	2037293	Standard	NM_002152	XR_243928	NA	Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1200G>A	19.37:g.49657295C>T		NA	Q504Y6	37	CCDS12759.1																																																																																			HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465649.1		-	ENST00000252825.4	Silent	SNP	19 : 49657295 - 49657295 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	607	100
IRX2	153572	broad.mit.edu	37	5	2749890	2749890	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2749890G>A	ENST00000502957.1	-	0	208				IRX2_ENST00000382611.6_Silent_p.Y87Y|IRX2_ENST00000302057.5_Silent_p.Y87Y			Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	NA						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TGTGCGCGTCGTAGGGTGCGC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	52	50			NA	NA	5		NA											NA				2749890		2203	4299	6502	SO:0001623	5_prime_UTR_variant			AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561	153572	153572		Homeoboxes / TALE class	14359	protein-coding gene	gene with protein product		606198			NA	11435706	Standard		NM_033267	NA	Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000502957.1:c.-637C>T	5.37:g.2749890G>A		NA	Q68A19|Q7Z2I7	37																																																																																				IRX2-003	KNOWN	mRNA_end_NF|basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000365963.2		-	ENST00000502957.1	5'UTR	SNP	5 : 2749890 - 2749890 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	50
TMEM132B	114795	broad.mit.edu	37	12	126138750	126138750	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:126138750G>T	ENST00000299308.3	+	9	2739	c.2731G>T	c.(2731-2733)Gcc>Tcc	p.A911S	TMEM132B_ENST00000535886.1_Missense_Mutation_p.A423S	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	911						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CTTCTGTCTGGCCATTCTGGT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	96	97			NA	NA	12		NA											NA				126138750		2035	4221	6256	SO:0001583	missense			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02					114795	114795			29397	protein-coding gene	gene with protein product					NA	11572484	Standard	NM_052907	NM_001286219	NA	Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2731G>T	12.37:g.126138750G>T	ENSP00000299308:p.Ala911Ser	NA	A2RRG8|Q8NA73|Q96JN9|Q96PY1	37	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282492	0.80692	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.23348	1.91;1.91	5.43	5.43	0.79202	.	0.093223	0.47093	N	0.000257	T	0.55862	0.1947	M	0.79926	2.475	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.60895	-0.7172	10	0.87932	D	0	.	19.2594	0.93961	0.0:0.0:1.0:0.0	.	911	Q14DG7	T132B_HUMAN	S	911;423	ENSP00000299308:A911S;ENSP00000440436:A423S	ENSP00000299308:A911S	A	+	1	0	TMEM132B	124704703	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.576000	0.98192	2.543000	0.85770	0.655000	0.94253	GCC	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400043.1		+	ENST00000299308.3	Missense_Mutation	SNP	12 : 126138750 - 126138750 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	567	77
TNFSF11	8600	broad.mit.edu	37	13	43148613	43148613	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:43148613C>T	ENST00000239849.6	+	1	325	c.174C>T	c.(172-174)ggC>ggT	p.G58G	TNFSF11_ENST00000358545.2_Intron|TNFSF11_ENST00000398795.2_5'UTR|TNFSF11_ENST00000544862.1_5'UTR|TNFSF11_ENST00000405262.2_Intron			O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	58					immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		TGGGGCTGGGCCAGGTTGTCT	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	17	16			NA	NA	13		NA											NA				43148613		1825	3472	5297	SO:0001819	synonymous_variant			AF013171	CCDS9384.1, CCDS9385.1	13q14	2008-02-05			ENSG00000120659	ENSG00000120659	NA	8600		Tumor necrosis factor (ligand) superfamily, CD molecules	11926	protein-coding gene	gene with protein product		602642			NA	9312132, 9367155	Standard		NM_003701	NA	Approved	TRANCE, RANKL, OPGL, ODF, CD254	uc001uyu.2	O14788	OTTHUMG00000016807	ENST00000239849.6:c.174C>T	13.37:g.43148613C>T		NA	O14723|Q96Q17|Q9P2Q3	37	CCDS9384.1																																																																																			TNFSF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044702.2		+	ENST00000239849.6	Silent	SNP	13 : 43148613 - 43148613 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	153	30
ADNP2	22850	broad.mit.edu	37	18	77896474	77896474	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77896474G>T	ENST00000262198.4	+	4	3633	c.3178G>T	c.(3178-3180)Gat>Tat	p.D1060Y		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	1060					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ATTTCTTAAAGATTATTTCCA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	49	47			NA	NA	18		NA											NA				77896474		2200	4297	6497	SO:0001583	missense			AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544	22850	22850		Homeoboxes / ZF class, Zinc fingers, C2H2-type	23803	protein-coding gene	gene with protein product			zinc finger protein 508	ZNF508	NA		Standard	NM_014913	NM_014913	NA	Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.3178G>T	18.37:g.77896474G>T	ENSP00000262198:p.Asp1060Tyr	NA	A8K951|O94943|Q9H9P3	37	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404616	0.42613	.	.	ENSG00000101544	ENST00000262198	D	0.92199	-2.99	4.75	4.75	0.60458	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.159508	0.43579	D	0.000542	D	0.93719	0.7993	L	0.54323	1.7	0.39665	D	0.970677	D	0.76494	0.999	D	0.69479	0.964	D	0.93066	0.6478	9	.	.	.	-27.2568	11.4188	0.49969	0.0823:0.0:0.9177:0.0	.	1060	Q6IQ32	ADNP2_HUMAN	Y	1060	ENSP00000262198:D1060Y	.	D	+	1	0	ADNP2	75997465	0.999000	0.42202	1.000000	0.80357	0.889000	0.51656	3.598000	0.54038	2.482000	0.83794	0.561000	0.74099	GAT	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418979.1		+	ENST00000262198.4	Missense_Mutation	SNP	18 : 77896474 - 77896474 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	256	51
BRMS1	25855	broad.mit.edu	37	11	66109606	66109606	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66109606G>A	ENST00000359957.3	-	2	260	c.100C>T	c.(100-102)Cgg>Tgg	p.R34W	BRMS1_ENST00000425825.2_Missense_Mutation_p.R34W	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	34					apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						CTGCCGCTCCGCTCCTCCTCA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(7;55 307 2662 20856 28942)							NA				0													159	121	134			NA	NA	11		NA											NA				66109606		2200	4295	6495	SO:0001583	missense			AF147350	CCDS8135.1, CCDS44654.1	11q13-q13.2	2008-02-05				ENSG00000174744	25855	25855			17262	protein-coding gene	gene with protein product		606259			NA	10850410	Standard	NM_015399	XM_005273883	NA	Approved	DKFZP564A063	uc001oho.1	Q9HCU9		ENST00000359957.3:c.100C>T	11.37:g.66109606G>A	ENSP00000353042:p.Arg34Trp	NA	Q6IAI2	37	CCDS8135.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031453	0.75504	.	.	ENSG00000174744	ENST00000425825;ENST00000359957;ENST00000530756	.	.	.	4.49	4.49	0.54785	.	0.435802	0.22217	N	0.063014	T	0.38639	0.1048	L	0.36672	1.1	0.31392	N	0.677761	D;D	0.67145	0.979;0.996	B;P	0.47573	0.183;0.55	T	0.50808	-0.8784	9	0.87932	D	0	-21.9512	11.0319	0.47779	0.0:0.1891:0.8109:0.0	.	34;34	Q9HCU9;G5E9I4	BRMS1_HUMAN;.	W	34	.	ENSP00000353042:R34W	R	-	1	2	BRMS1	65866182	0.865000	0.29922	0.991000	0.47740	0.987000	0.75469	3.129000	0.50500	2.234000	0.73211	0.591000	0.81541	CGG	BRMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392958.2		-	ENST00000359957.3	Missense_Mutation	SNP	11 : 66109606 - 66109606 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	386	33
LRRC37B	114659	broad.mit.edu	37	17	30361959	30361959	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30361959C>T	ENST00000543378.2	+	9	2096	c.1761C>T	c.(1759-1761)gtC>gtT	p.V587V	LRRC37B_ENST00000394713.3_Silent_p.V618V|LRRC37B_ENST00000341671.7_Silent_p.V669V|LRRC37B_ENST00000327564.7_Silent_p.V696V|LRRC37B_ENST00000584368.1_Silent_p.V630V			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	669						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TGACTACTGTCGAAGATCCAT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	56	57			NA	NA	17		NA											NA				30361959		2203	4297	6500	SO:0001819	synonymous_variant			AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158	114659	114659			29070	protein-coding gene	gene with protein product	KIAA0563-related				NA	11468690, 10843809	Standard	NM_052888	NM_052888	NA	Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000543378.2:c.1761C>T	17.37:g.30361959C>T		NA	Q5YKG6	37																																																																																				LRRC37B-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000446503.1		+	ENST00000543378.2	Silent	SNP	17 : 30361959 - 30361959 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	242	27
ITSN1	6453	broad.mit.edu	37	21	35094941	35094941	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35094941T>C	ENST00000381318.3	+	4	458	c.170T>C	c.(169-171)gTt>gCt	p.V57A	ITSN1_ENST00000379960.5_Missense_Mutation_p.V57A|ITSN1_ENST00000437442.2_Missense_Mutation_p.V57A|ITSN1_ENST00000399367.3_Missense_Mutation_p.V57A|ITSN1_ENST00000399355.2_Missense_Mutation_p.V57A|ITSN1_ENST00000399326.3_Missense_Mutation_p.V57A|ITSN1_ENST00000399338.4_Missense_Mutation_p.V57A|ITSN1_ENST00000381285.4_Missense_Mutation_p.V57A|ITSN1_ENST00000399353.1_Missense_Mutation_p.V57A|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Missense_Mutation_p.V57A|ITSN1_ENST00000381291.4_Missense_Mutation_p.V57A|ITSN1_ENST00000399352.1_Missense_Mutation_p.V57A	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	57	EF-hand 1.|EH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CCTCAACCTGTTTTAGCACAG	0.279		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	21		NA											NA				35094941		2202	4295	6497	SO:0001583	missense			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726	6453	6453		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing, EF-hand domain containing	6183	protein-coding gene	gene with protein product	SH3 domain protein-1A, human intersectin-SH3 domain-containing protein SH3P17, Src homology 3 domain-containing protein, intersectin 1 short form variant, 11, intersectin 1 short form variant 3, intersectin short variant 12	602442		SH3D1A, ITSN	NA	9799604, 9813051	Standard	NM_003024	NM_003024	NA	Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.170T>C	21.37:g.35094941T>C	ENSP00000370719:p.Val57Ala	NA	O95216|Q1ED40|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	37	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	T	18.30	3.594035	0.66219	.	.	ENSG00000205726	ENST00000399353;ENST00000444491;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000451686;ENST00000381283;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.9	5.9	0.94986	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.119758	0.56097	D	0.000027	T	0.55970	0.1954	M	0.75264	2.295	0.58432	D	0.999996	P;P;P;P;D;P;P;P;P	0.65815	0.528;0.528;0.528;0.528;0.995;0.528;0.528;0.719;0.528	P;B;B;B;D;B;B;P;B	0.68039	0.491;0.414;0.414;0.414;0.955;0.414;0.414;0.494;0.414	T	0.59984	-0.7351	10	0.87932	D	0	.	15.9811	0.80111	0.0:0.0:0.0:1.0	.	57;57;57;57;57;57;57;57;57	A8D7D0;A7XZY7;A8CTY7;A8CTY3;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;ITSN1_HUMAN;.;.	A	57	ENSP00000382290:V57A;ENSP00000400079:V57A;ENSP00000370719:V57A;ENSP00000370691:V57A;ENSP00000370685:V57A;ENSP00000382301:V57A;ENSP00000382289:V57A;ENSP00000382292:V57A;ENSP00000382286:V57A;ENSP00000407132:V57A;ENSP00000370683:V57A;ENSP00000382275:V57A;ENSP00000387377:V57A;ENSP00000382265:V57A;ENSP00000369294:V57A	ENSP00000369294:V57A	V	+	2	0	ITSN1	34016811	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.331000	0.72929	2.248000	0.74166	0.459000	0.35465	GTT	ITSN1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000140070.4		+	ENST00000381318.3	Missense_Mutation	SNP	21 : 35094941 - 35094941 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	243	64
MT1HL1	645745	broad.mit.edu	37	1	237167644	237167644	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237167644C>T	ENST00000464121.2	-	1	74	c.29G>A	c.(28-30)gGa>gAa	p.G10E		NM_001276687.1	NP_001263616.1			metallothionein 1H-like 1	NA											NA						GTAGGAGCCTCCAGCGGCGCA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	36	35			NA	NA	1		NA											NA				237167644		692	1591	2283	SO:0001583	missense			AF333388	CCDS31068.1	1q43	2013-03-07	2013-03-07	2013-03-07	ENSG00000244020	ENSG00000244020	645745	645745		Metallothioneins	31864	protein-coding gene	gene with protein product			metallothionein 1 pseudogene 2	MT1P2	NA		Standard	NM_001039954	NM_001276687	NA	Approved		uc001hyk.2	P0DM35	OTTHUMG00000040065	ENST00000464121.2:c.29G>A	1.37:g.237167644C>T	ENSP00000476141:p.Gly10Glu	NA		37																																																																																				MT1HL1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000096642.4		-	ENST00000464121.2	Missense_Mutation	SNP	1 : 237167644 - 237167644 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	14
SFT2D2	375035	broad.mit.edu	37	1	168205957	168205957	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:168205957A>G	ENST00000271375.4	+	6	434	c.362A>G	c.(361-363)aAc>aGc	p.N121S	SFT2D2_ENST00000367829.1_Missense_Mutation_p.T94A|SFT2D2_ENST00000471981.1_3'UTR|SFT2D2_ENST00000367825.3_Missense_Mutation_p.T94A	NM_199344.2	NP_955376.1	O95562	SFT2B_HUMAN	SFT2 domain containing 2	NA					protein transport|vesicle-mediated transport	integral to membrane				lung(3)|skin(1)	4	all_hematologic(923;0.215)					CAGTGGCATAACAAGGGACTT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													241	237	238			NA	NA	1		NA											NA				168205957		2203	4300	6503	SO:0001583	missense			AL035297	CCDS1271.1	1q24.2	2008-02-05			ENSG00000213064	ENSG00000213064	375035	375035			25140	protein-coding gene	gene with protein product					NA		Standard	NM_199344	NM_199344	NA	Approved	UNQ512, dJ747L4.C1.2	uc001gfi.4	O95562	OTTHUMG00000034650	ENST00000271375.4:c.362A>G	1.37:g.168205957A>G	ENSP00000271375:p.Asn121Ser	NA	A8K2R0|Q6UWR8	37	CCDS1271.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.30|16.30	3.083832|3.083832	0.55861|0.55861	.|.	.|.	ENSG00000213064|ENSG00000213064	ENST00000271375|ENST00000367829;ENST00000367825	T|.	0.35789|.	1.29|.	5.18|5.18	4.04|4.04	0.47022|0.47022	.|.	0.168207|.	0.49916|.	U|.	0.000130|.	T|T	0.19886|0.19886	0.0478|0.0478	N|N	0.16166|0.16166	0.38|0.38	0.09310|.	N|.	0.999993|.	B|.	0.13594|.	0.008|.	B|.	0.18871|.	0.023|.	T|T	0.08638|0.08638	-1.0712|-1.0712	9|5	0.02654|0.56958	T|D	1|0.05	-8.6714|-8.6714	9.2735|9.2735	0.37686|0.37686	0.8392:0.0:0.0:0.1608|0.8392:0.0:0.0:0.1608	.|.	121|.	O95562|.	SFT2B_HUMAN|.	S|A	121|94	ENSP00000271375:N121S|.	ENSP00000271375:N121S|ENSP00000356799:T94A	N|T	+|+	2|1	0|0	SFT2D2|SFT2D2	166472581|166472581	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.508000|5.508000	0.67006|0.67006	0.790000|0.790000	0.33803|0.33803	0.528000|0.528000	0.53228|0.53228	AAC|ACA	SFT2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083827.2		+	ENST00000271375.4	Missense_Mutation	SNP	1 : 168205957 - 168205957 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1515	110
AIFM2	84883	broad.mit.edu	37	10	71880912	71880912	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71880912C>T	ENST00000307864.1	-	4	563	c.350G>A	c.(349-351)gGc>gAc	p.G117D	AIFM2_ENST00000373248.1_Missense_Mutation_p.G117D	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	117					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						ATTAAACTTGCCCGGGAAGGG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	61	62			NA	NA	10		NA											NA				71880912		2203	4300	6503	SO:0001583	missense			AK027403	CCDS7297.1	10q22.2	2006-11-16	2006-11-16	2006-11-16	ENSG00000042286	ENSG00000042286	84883	84883			21411	protein-coding gene	gene with protein product		605159	apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death	AMID	NA	12135761, 11980907, 15958387	Standard	NM_032797	NM_001198696	NA	Approved	FLJ14497, PRG3	uc001jqp.2	Q9BRQ8	OTTHUMG00000018398	ENST00000307864.1:c.350G>A	10.37:g.71880912C>T	ENSP00000312370:p.Gly117Asp	NA	B3KXI0|Q63Z39	37	CCDS7297.1	.	.	.	.	.	.	.	.	.	.	C	33	5.209168	0.95069	.	.	ENSG00000042286	ENST00000373248;ENST00000307864	T;T	0.63417	-0.04;-0.04	6.17	6.17	0.99709	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.80560	0.4646	M	0.76328	2.33	0.80722	D	1	D	0.71674	0.998	D	0.74348	0.983	T	0.79997	-0.1567	10	0.66056	D	0.02	-36.0769	20.4898	0.99202	0.0:1.0:0.0:0.0	.	117	Q9BRQ8	AIFM2_HUMAN	D	117	ENSP00000362345:G117D;ENSP00000312370:G117D	ENSP00000312370:G117D	G	-	2	0	AIFM2	71550918	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	6.639000	0.74314	2.941000	0.99782	0.655000	0.94253	GGC	AIFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048487.1		-	ENST00000307864.1	Missense_Mutation	SNP	10 : 71880912 - 71880912 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	438	76
KLF5	688	broad.mit.edu	37	13	73636671	73636671	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:73636671C>T	ENST00000377687.4	+	2	1470	c.934C>T	c.(934-936)Cca>Tca	p.P312S	KLF5_ENST00000539231.1_Missense_Mutation_p.P221S|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	312					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		GCCTGGAAGTCCAGATAGACA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	114	122			NA	NA	13		NA											NA				73636671		2203	4300	6503	SO:0001583	missense			D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554	688	688		Kruppel-like transcription factors, Zinc fingers, C2H2-type	6349	protein-coding gene	gene with protein product		602903		BTEB2	NA	8479902, 9973612	Standard		NM_001730	NA	Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.934C>T	13.37:g.73636671C>T	ENSP00000366915:p.Pro312Ser	NA	Q9UHP8	37	CCDS9448.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656232	0.67586	.	.	ENSG00000102554	ENST00000539231;ENST00000377687;ENST00000545883	T;T	0.12039	2.96;2.72	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.34483	0.0899	L	0.48362	1.52	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00468	-1.1721	10	0.54805	T	0.06	.	20.3085	0.98641	0.0:1.0:0.0:0.0	.	312	Q13887	KLF5_HUMAN	S	221;312;292	ENSP00000440407:P221S;ENSP00000366915:P312S	ENSP00000366915:P312S	P	+	1	0	KLF5	72534672	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.338000	0.79269	2.797000	0.96272	0.555000	0.69702	CCA	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045263.1		+	ENST00000377687.4	Missense_Mutation	SNP	13 : 73636671 - 73636671 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	524	67
EPHB3	2049	broad.mit.edu	37	3	184290757	184290757	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184290757G>A	ENST00000330394.2	+	3	1101	c.649G>A	c.(649-651)Gca>Aca	p.A217T	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	217	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.A217T(1)		breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ATCCACCACCGCAGGCTTCGC	0.632		NA											G	1	5e-04	NA	NA	2184	0.0017	0.9998	,	,	NA	4e-04	NA	NA	NA	6e-04	0.8138	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				1	Substitution - Missense(1)	stomach(1)											56	58	57			NA	NA	3		NA											NA				184290757		2203	4300	6503	SO:0001583	missense			X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580	2049	2049		EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3394	protein-coding gene	gene with protein product		601839	EphB3	ETK2	NA	8397371	Standard	NM_004443	NM_004443	NA	Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.649G>A	3.37:g.184290757G>A	ENSP00000332118:p.Ala217Thr	NA	Q7Z740	37	CCDS3268.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	25.4	4.638959	0.87760	.	.	ENSG00000182580	ENST00000330394	T	0.73258	-0.73	5.27	5.27	0.74061	.	0.056206	0.64402	D	0.000001	T	0.78824	0.4344	L	0.38175	1.15	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.79706	-0.1691	10	0.52906	T	0.07	.	17.8822	0.88843	0.0:0.0:1.0:0.0	.	217	P54753	EPHB3_HUMAN	T	217	ENSP00000332118:A217T	ENSP00000332118:A217T	A	+	1	0	EPHB3	185773451	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	7.872000	0.87187	2.445000	0.82738	0.561000	0.74099	GCA	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345413.1		+	ENST00000330394.2	Missense_Mutation	SNP	3 : 184290757 - 184290757 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	465	78
C2CD3	26005	broad.mit.edu	37	11	73789414	73789414	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73789414G>T	ENST00000313663.7	-	23	4575	c.4349C>A	c.(4348-4350)cCt>cAt	p.P1450H	C2CD3_ENST00000334126.7_Missense_Mutation_p.P1450H	NM_015531.4	NP_056346.3	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1450						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CTTCTTGAGAGGGGTCCAAAA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	80	82			NA	NA	11		NA											NA				73789414		2200	4293	6493	SO:0001583	missense			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014	26005	26005			24564	protein-coding gene	gene with protein product		615944			NA		Standard	NM_015531	XM_005273897	NA	Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000313663.7:c.4349C>A	11.37:g.73789414G>T	ENSP00000323339:p.Pro1450His	NA	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	37	CCDS31636.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355783	0.61293	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	D;D;D	0.89875	-2.58;-2.58;-2.58	5.35	5.35	0.76521	.	0.393546	0.28203	N	0.016218	D	0.91442	0.7299	L	0.42245	1.32	0.31271	N	0.691796	D	0.89917	1.0	D	0.72338	0.977	D	0.90329	0.4350	10	0.51188	T	0.08	-8.1999	13.3976	0.60863	0.0776:0.0:0.9224:0.0	.	1450	Q4AC94-1	.	H	1450;1450;1431;258	ENSP00000334379:P1450H;ENSP00000323339:P1450H;ENSP00000388750:P258H	ENSP00000323339:P1450H	P	-	2	0	C2CD3	73467062	0.999000	0.42202	1.000000	0.80357	0.952000	0.60782	2.187000	0.42602	2.502000	0.84385	0.650000	0.86243	CCT	C2CD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398210.1		-	ENST00000313663.7	Missense_Mutation	SNP	11 : 73789414 - 73789414 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	489	21
MGEA5	10724	broad.mit.edu	37	10	103567613	103567613	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103567613T>C	ENST00000361464.3	-	5	921	c.526A>G	c.(526-528)Ata>Gta	p.I176V	MGEA5_ENST00000370094.3_Missense_Mutation_p.I176V|MGEA5_ENST00000439817.1_Missense_Mutation_p.I176V|MGEA5_ENST00000419011.2_3'UTR|MGEA5_ENST00000357797.5_Missense_Mutation_p.I176V	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	176					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TTATGGTCTATATCATCAAAA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	145	143			NA	NA	10		NA											NA				103567613		2203	4300	6503	SO:0001583	missense			AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408	10724	10724			7056	protein-coding gene	gene with protein product	nuclear cytoplasmic O-GlcNAcase and acetyltransferase	604039			NA	9811929, 16356930	Standard	NM_012215	NM_012215	NA	Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.526A>G	10.37:g.103567613T>C	ENSP00000354850:p.Ile176Val	NA	B7WPB9|D3DR79|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	37	CCDS7520.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.369227	0.82463	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797;ENST00000370094;ENST00000429860	T;T;T;T	0.41758	1.1;1.03;1.13;0.99	5.35	5.35	0.76521	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.62636	0.2444	M	0.69463	2.115	0.80722	D	1	D;D;D;D	0.71674	0.994;0.993;0.997;0.998	D;D;D;D	0.70935	0.923;0.921;0.966;0.971	T	0.66618	-0.5878	10	0.87932	D	0	-19.0523	15.6177	0.76780	0.0:0.0:0.0:1.0	.	176;176;176;176	E9PGF9;O60502-2;O60502-3;O60502	.;.;.;NCOAT_HUMAN	V	176;176;176;176;124	ENSP00000409973:I176V;ENSP00000354850:I176V;ENSP00000350445:I176V;ENSP00000359112:I176V	ENSP00000350445:I176V	I	-	1	0	MGEA5	103557603	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.997000	0.88414	2.156000	0.67533	0.477000	0.44152	ATA	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049987.1		-	ENST00000361464.3	Missense_Mutation	SNP	10 : 103567613 - 103567613 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	892	168
GFRA3	2676	broad.mit.edu	37	5	137593567	137593567	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137593567G>A	ENST00000274721.3	-	4	792	c.546C>T	c.(544-546)taC>taT	p.Y182Y	GFRA3_ENST00000378362.3_Silent_p.Y151Y	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	182					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACGCCTCCCCGTAGGCCTTGC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	31	30			NA	NA	5		NA											NA				137593567		2203	4300	6503	SO:0001819	synonymous_variant			AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013	2676	2676			4245	protein-coding gene	gene with protein product		605710			NA	9407096	Standard	NM_001496	NM_001496	NA	Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.546C>T	5.37:g.137593567G>A		NA	B2RA36|B4DMY9|Q6UW20|Q8IUZ2	37	CCDS4201.1																																																																																			GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251277.1		-	ENST00000274721.3	Silent	SNP	5 : 137593567 - 137593567 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	304	40
MAP7D1	55700	broad.mit.edu	37	1	36642393	36642393	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36642393G>A	ENST00000316156.4	+	7	1671	c.1218G>A	c.(1216-1218)ctG>ctA	p.L406L	MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373150.4_Silent_p.L411L|MAP7D1_ENST00000373151.2_Silent_p.L443L			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	443						cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GCCAGTCGCTGCCCGCCTCCC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	36	33			NA	NA	1		NA											NA				36642393		2187	4280	6467	SO:0001819	synonymous_variant			AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871	55700	55700			25514	protein-coding gene	gene with protein product			proline arginine rich coiled coil 1, arginine/proline rich coiled-coil 1	PARCC1, RPRC1	NA	10574461	Standard	NM_018067	XM_005271024	NA	Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000316156.4:c.1218G>A	1.37:g.36642393G>A		NA	D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	37		.	.	.	.	.	.	.	.	.	.	G	9.221	1.033468	0.19590	.	.	ENSG00000116871	ENST00000530975	.	.	.	5.04	-0.339	0.12647	.	.	.	.	.	T	0.50309	0.1608	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34875	-0.9811	4	.	.	.	-14.0724	5.145	0.14979	0.241:0.2783:0.4807:0.0	.	.	.	.	T	26	.	.	A	+	1	0	MAP7D1	36414980	0.997000	0.39634	0.940000	0.37924	0.584000	0.36387	0.232000	0.17891	-0.243000	0.09653	-0.254000	0.11334	GCC	MAP7D1-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000020762.1		+	ENST00000316156.4	Silent	SNP	1 : 36642393 - 36642393 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	78	9
TEC	7006	broad.mit.edu	37	4	48151572	48151572	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48151572A>G	ENST00000381501.3	-	11	1164		c.e11+1		TEC_ENST00000511471.2_Splice_Site	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	NA					intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CAGCTCACTTACCTGCTGCAT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	142	144			NA	NA	4		NA											NA				48151572		2203	4300	6503	SO:0001630	splice_region_variant			D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605	7006	7006		Pleckstrin homology (PH) domain containing, SH2 domain containing	11719	protein-coding gene	gene with protein product		600583			NA	7934162	Standard		NM_003215	NA	Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.1006+1T>C	4.37:g.48151572A>G		NA	B7ZKZ6|Q3MIS5	37	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.311049	0.40895	.	.	ENSG00000135605	ENST00000381501	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1606	0.81704	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TEC	47846329	1.000000	0.71417	0.981000	0.43875	0.135000	0.20990	9.307000	0.96226	2.227000	0.72691	0.460000	0.39030	.	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250492.3	Intron	-	ENST00000381501.3	Splice_Site	SNP	4 : 48151572 - 48151572 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	52
CASD1	64921	broad.mit.edu	37	7	94184895	94184895	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94184895T>C	ENST00000297273.4	+	18	2506	c.2219T>C	c.(2218-2220)gTc>gCc	p.V740A		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	740						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AACATCATTGTCAGCACTTTC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	92	96			NA	NA	7		NA											NA				94184895		2203	4300	6503	SO:0001583	missense			AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995	64921	64921			16014	protein-coding gene	gene with protein product	chromosome 7 open reading frame 12	611686			NA	11703667, 11528394	Standard	NM_022900	NM_022900	NA	Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.2219T>C	7.37:g.94184895T>C	ENSP00000297273:p.Val740Ala	NA	B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	37	CCDS5636.1	.	.	.	.	.	.	.	.	.	.	T	14.98	2.697164	0.48202	.	.	ENSG00000127995	ENST00000297273	T	0.52754	0.65	5.29	4.14	0.48551	.	0.115568	0.64402	N	0.000017	T	0.49406	0.1555	M	0.78049	2.395	0.49389	D	0.999789	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.007	T	0.51332	-0.8719	10	0.87932	D	0	.	11.1885	0.48671	0.0:0.0728:0.0:0.9272	.	740;740	Q8WZ77;Q96PB1	.;CASD1_HUMAN	A	740	ENSP00000297273:V740A	ENSP00000297273:V740A	V	+	2	0	CASD1	94022831	1.000000	0.71417	0.999000	0.59377	0.442000	0.32017	6.114000	0.71560	0.970000	0.38263	-0.333000	0.08304	GTC	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255216.1		+	ENST00000297273.4	Missense_Mutation	SNP	7 : 94184895 - 94184895 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	343	61
ZNF878	729747	broad.mit.edu	37	19	12155662	12155662	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12155662G>T	ENST00000547628.1	-	4	691	c.554C>A	c.(553-555)tCt>tAt	p.S185Y	ZNF878_ENST00000602107.1_Missense_Mutation_p.S232Y|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TCTACGAACAGAACTGGGAAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	185	181			NA	NA	19		NA											NA				12155662		2114	4259	6373	SO:0001583	missense				CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446	729747	729747		Zinc fingers, C2H2-type, -	37246	protein-coding gene	gene with protein product					NA		Standard	NM_001080404	NM_001080404	NA	Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.554C>A	19.37:g.12155662G>T	ENSP00000447931:p.Ser185Tyr	NA		37	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	G	1.280	-0.610728	0.03690	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.07567	3.18	1.3	-2.6	0.06190	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09247	0.0228	N	0.25992	0.78	0.09310	N	1	D	0.64830	0.994	P	0.61658	0.892	T	0.17471	-1.0368	9	0.14656	T	0.56	.	3.84	0.08911	0.2036:0.0:0.1891:0.6073	.	185	C9JN71	ZN878_HUMAN	Y	185;232	ENSP00000447931:S185Y	ENSP00000447931:S185Y	S	-	2	0	AC022415.4;ZNF878	12016662	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.401000	0.07232	-0.859000	0.04105	-0.656000	0.03901	TCT	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403723.1		-	ENST00000547628.1	Missense_Mutation	SNP	19 : 12155662 - 12155662 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1108	177
EPB41L3	23136	broad.mit.edu	37	18	5415823	5415823	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:5415823C>A	ENST00000341928.2	-	13	2401	c.2061G>T	c.(2059-2061)gaG>gaT	p.E687D	EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.E687D|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000542652.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	687	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						ACACCTCTTCCTCTGAACTGT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	74	74			NA	NA	18		NA											NA				5415823		2203	4300	6503	SO:0001583	missense			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397	23136	23136			3380	protein-coding gene	gene with protein product		605331			NA	9828140, 9892180	Standard	NM_012307	NM_012307	NA	Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2061G>T	18.37:g.5415823C>A	ENSP00000343158:p.Glu687Asp	NA	O95713|Q9BRP5	37	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174364	0.57692	.	.	ENSG00000082397	ENST00000341928;ENST00000342933	D;D	0.82167	-1.58;-1.58	5.65	5.65	0.86999	.	0.356014	0.28889	N	0.013812	T	0.71187	0.3310	N	0.14661	0.345	0.80722	D	1	B	0.17465	0.022	B	0.14578	0.011	T	0.66056	-0.6018	10	0.36615	T	0.2	.	14.5656	0.68173	0.1461:0.8539:0.0:0.0	.	687	Q9Y2J2	E41L3_HUMAN	D	687	ENSP00000343158:E687D;ENSP00000341138:E687D	ENSP00000343158:E687D	E	-	3	2	EPB41L3	5405823	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.704000	0.61831	2.655000	0.90218	0.655000	0.94253	GAG	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254424.1		-	ENST00000341928.2	Missense_Mutation	SNP	18 : 5415823 - 5415823 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	77
AZIN1	51582	broad.mit.edu	37	8	103845355	103845355	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103845355G>A	ENST00000337198.5	-	9	1996	c.833C>T	c.(832-834)tCt>tTt	p.S278F	AZIN1_ENST00000347770.4_Missense_Mutation_p.S278F	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	278					polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	catalytic activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			AAATGCAGAAGACACATAGTA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	90	88			NA	NA	8		NA											NA				103845355		2203	4300	6503	SO:0001583	missense			AAC25391	CCDS6295.1	8p22-q21.3	2005-03-21	2005-03-21	2005-03-21		ENSG00000155096	NA	51582			16432	protein-coding gene	gene with protein product	ornithine decarboxylase 1-like	607909	ornithine decarboxylase antizyme inhibitor	OAZIN	NA	9349715, 9110174	Standard		XM_005250969	NA	Approved	OAZI, ODC1L	uc003yky.3	O14977		ENST00000337198.5:c.833C>T	8.37:g.103845355G>A	ENSP00000337180:p.Ser278Phe	NA	A6NCD5|Q6IBQ7|Q96D20	37	CCDS6295.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.534590	0.45073	.	.	ENSG00000155096	ENST00000337198;ENST00000347770	T;T	0.46063	0.88;0.88	6.06	6.06	0.98353	Orn/DAP/Arg decarboxylase 2, N-terminal (1);Alanine racemase/group IV decarboxylase, C-terminal (2);	0.050710	0.85682	D	0.000000	T	0.50939	0.1645	L	0.55743	1.74	0.58432	D	0.999999	B	0.29341	0.242	B	0.39068	0.289	T	0.45527	-0.9255	10	0.56958	D	0.05	-14.8825	20.6208	0.99490	0.0:0.0:1.0:0.0	.	278	O14977	AZIN1_HUMAN	F	278	ENSP00000337180:S278F;ENSP00000321507:S278F	ENSP00000337180:S278F	S	-	2	0	AZIN1	103914531	1.000000	0.71417	1.000000	0.80357	0.205000	0.24178	7.647000	0.83462	2.882000	0.98803	0.655000	0.94253	TCT	AZIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380133.1		-	ENST00000337198.5	Missense_Mutation	SNP	8 : 103845355 - 103845355 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	365	61
KCNJ10	3766	broad.mit.edu	37	1	160011435	160011435	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160011435C>T	ENST00000509700.1	-	1	462				KCNJ10_ENST00000368089.3_Silent_p.V296V			P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	NA						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGAAGTGCGCACCTGACAGG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(167;1368 2014 14817 36425 43215)							NA				0													78	71	73			NA	NA	1		NA											NA				160011435		2203	4300	6503	SO:0001627	intron_variant			U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807	3766	3766		Potassium channels, Voltage-gated ion channels / Potassium channels, Inwardly rectifying	6256	protein-coding gene	gene with protein product		602208			NA	9367690, 8995301, 16382105	Standard	NM_002241	NM_002241	NA	Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000509700.1:c.131+188G>A	1.37:g.160011435C>T		NA	A3KME7|Q5VUT9|Q8N4I7|Q92808	37																																																																																				KCNJ10-002	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000470343.1		-	ENST00000509700.1	Intron	SNP	1 : 160011435 - 160011435 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	198	38
NRXN1	9378	broad.mit.edu	37	2	50149333	50149333	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:50149333G>A	ENST00000404971.1	-	24	5732	c.4393C>T	c.(4393-4395)Cgg>Tgg	p.R1465W	NRXN1_ENST00000406316.2_Missense_Mutation_p.R1395W|NRXN1_ENST00000402717.3_Missense_Mutation_p.R1417W|NRXN1_ENST00000405472.3_Missense_Mutation_p.R1417W|NRXN1_ENST00000401669.2_Missense_Mutation_p.R1425W|NRXN1_ENST00000342183.5_Missense_Mutation_p.R360W|NRXN1_ENST00000406859.3_Missense_Mutation_p.R1395W|NRXN1_ENST00000401710.1_Missense_Mutation_p.R413W	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1395					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTGGACTCCCGGATCACTTCT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	59	63			NA	NA	2		NA											NA				50149333		2203	4300	6503	SO:0001583	missense			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915	9378	9378			8008	protein-coding gene	gene with protein product		600565			NA		Standard		NM_001135659	NA	Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000404971.1:c.4393C>T	2.37:g.50149333G>A	ENSP00000385142:p.Arg1465Trp	NA	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	37	CCDS46282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.115777|4.115777	0.77323|0.77323	.|.	.|.	ENSG00000179915|ENSG00000179915	ENST00000378262|ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	.|T;T;T;T;T;T;T;T	.|0.73789	.|0.74;1.97;-0.08;-0.09;-0.78;-0.67;-0.38;-0.23	5.95|5.95	5.04|5.04	0.67666|0.67666	.|.	.|0.000000	.|0.48286	.|U	.|0.000200	D|D	0.85230|0.85230	0.5649|0.5649	M|M	0.72118|0.72118	2.19|2.19	0.49483|0.49483	D|D	0.999792|0.999792	.|D;D;D;D;D;D	.|0.89917	.|0.995;1.0;0.999;0.999;0.999;0.999	.|P;D;D;D;D;D	.|0.78314	.|0.802;0.963;0.991;0.932;0.918;0.967	D|D	0.86372|0.86372	0.1724|0.1724	5|10	.|0.87932	.|D	.|0	.|.	16.6034|16.6034	0.84822|0.84822	0.0:0.0:0.8694:0.1306|0.0:0.0:0.8694:0.1306	.|.	.|60;1465;360;1395;1414;57	.|B4DIT5;Q9ULB1-3;P58400;F8WB18;A7E294;Q5HYI0	.|.;.;NRX1B_HUMAN;.;.;.	L|W	61|360;314;413;1465;1395;1417;1425;1466;1417;1395	.|ENSP00000341184:R360W;ENSP00000385580:R413W;ENSP00000385142:R1465W;ENSP00000384311:R1395W;ENSP00000434015:R1417W;ENSP00000385017:R1425W;ENSP00000385434:R1417W;ENSP00000385681:R1395W	.|ENSP00000341184:R360W	P|R	-|-	2|1	0|2	NRXN1|NRXN1	50002837|50002837	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.987000|0.987000	0.75469|0.75469	8.001000|8.001000	0.88508|0.88508	2.817000|2.817000	0.96982|0.96982	0.563000|0.563000	0.77884|0.77884	CCG|CGG	NRXN1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323894.3		-	ENST00000404971.1	Missense_Mutation	SNP	2 : 50149333 - 50149333 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	305	48
UNC45B	146862	broad.mit.edu	37	17	33495095	33495095	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33495095C>A	ENST00000268876.5	+	10	1264	c.1167C>A	c.(1165-1167)ccC>ccA	p.P389P	UNC45B_ENST00000378449.1_Silent_p.P389P|UNC45B_ENST00000394570.2_Silent_p.P389P|UNC45B_ENST00000591048.1_Silent_p.P389P|UNC45B_ENST00000433649.1_Silent_p.P389P	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	389					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				AGTTTGACCCCCAGGACATGG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	60	62			NA	NA	17		NA											NA				33495095		2203	4300	6503	SO:0001819	synonymous_variant			AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161	146862	146862			14304	protein-coding gene	gene with protein product		611220	cardiomyopathy associated 4	CMYA4	NA	12356907	Standard	NM_173167	NM_001267052	NA	Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1167C>A	17.37:g.33495095C>A		NA	Q495Q8|Q495Q9	37	CCDS11292.1																																																																																			UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256458.2		+	ENST00000268876.5	Silent	SNP	17 : 33495095 - 33495095 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	45
OR5T1	390155	broad.mit.edu	37	11	56044027	56044027	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56044027C>T	ENST00000313033.2	+	1	999	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R305W(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					CTACAGTTTGCGGAACAAAGA	0.338		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)						C	TRP/ARG	1,4401	2.1+/-5.4	0,1,2200	99	94	95		913	2.5	1	11		95	0,8592		0,0,4296	no	missense	OR5T1	NM_001004745.1	101	0,1,6496	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging	305/327	56044027	1,12993	2201	4296	6497	SO:0001583	missense			AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698	390155	390155		GPCR / Class A : Olfactory receptors	14821	protein-coding gene	gene with protein product				OR5T1P	NA		Standard	NM_001004745	NM_001004745	NA	Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.913C>T	11.37:g.56044027C>T	ENSP00000323612:p.Arg305Trp	NA	B2RNM9	37	CCDS31525.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707520	0.48412	2.27E-4	0.0	ENSG00000181698	ENST00000313033	T	0.41065	1.01	3.63	2.48	0.30137	.	0.000000	0.52532	D	0.000078	T	0.66877	0.2834	M	0.92026	3.265	0.20307	N	0.999912	D	0.89917	1.0	D	0.91635	0.999	T	0.58864	-0.7561	10	0.87932	D	0	.	8.4943	0.33119	0.8021:0.1979:0.0:0.0	.	305	Q8NG75	OR5T1_HUMAN	W	305	ENSP00000323612:R305W	ENSP00000323612:R305W	R	+	1	2	OR5T1	55800603	0.132000	0.22450	1.000000	0.80357	0.953000	0.61014	1.223000	0.32527	0.576000	0.29452	-0.607000	0.04081	CGG	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391600.1		+	ENST00000313033.2	Missense_Mutation	SNP	11 : 56044027 - 56044027 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	508	24
STK33	65975	broad.mit.edu	37	11	8414220	8414220	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8414220T>G	ENST00000447869.1	-	12	2300	c.1382A>C	c.(1381-1383)aAg>aCg	p.K461T	STK33_ENST00000315204.1_Missense_Mutation_p.K461T|STK33_ENST00000396673.1_Missense_Mutation_p.K395T|STK33_ENST00000534493.1_Missense_Mutation_p.K420T|STK33_ENST00000358872.3_Missense_Mutation_p.K274T|STK33_ENST00000396672.1_Missense_Mutation_p.K461T|STK33_ENST00000473980.1_5'UTR			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	461						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		AAAGTTGTCCTTACTGGTTGC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	110	113			NA	NA	11		NA											NA				8414220		2201	4296	6497	SO:0001583	missense			AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413	65975	65975			14568	protein-coding gene	gene with protein product		607670			NA	11738831	Standard	NM_030906	NM_030906	NA	Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.1382A>C	11.37:g.8414220T>G	ENSP00000416750:p.Lys461Thr	NA	Q658S6|Q8NEF5	37	CCDS7789.1	.	.	.	.	.	.	.	.	.	.	T	17.31	3.357246	0.61293	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000358872;ENST00000396673;ENST00000444064;ENST00000534493	T;T;T;T;T;T;T	0.71817	-0.55;-0.55;-0.55;-0.6;2.02;2.02;-0.54	5.8	2.13	0.27403	.	0.169760	0.33572	N	0.004776	T	0.48003	0.1476	N	0.22421	0.69	0.22354	N	0.99918	P	0.43477	0.808	B	0.39706	0.307	T	0.33574	-0.9863	10	0.16896	T	0.51	.	5.0636	0.14570	0.3919:0.0:0.1627:0.4453	.	461	Q9BYT3	STK33_HUMAN	T	461;461;461;274;395;150;420	ENSP00000416750:K461T;ENSP00000320754:K461T;ENSP00000379905:K461T;ENSP00000351743:K274T;ENSP00000379906:K395T;ENSP00000415688:K150T;ENSP00000436418:K420T	ENSP00000320754:K461T	K	-	2	0	STK33	8370796	0.665000	0.27466	0.997000	0.53966	0.263000	0.26337	0.601000	0.24119	0.986000	0.38683	0.533000	0.62120	AAG	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276819.2		-	ENST00000447869.1	Missense_Mutation	SNP	11 : 8414220 - 8414220 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	438	99
PRKCSH	5589	broad.mit.edu	37	19	11560084	11560084	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11560084C>T	ENST00000591462.1	+	18	1730	c.1435C>T	c.(1435-1437)Cgc>Tgc	p.R479C	PRKCSH_ENST00000587327.1_Missense_Mutation_p.R479C|PRKCSH_ENST00000412601.1_Missense_Mutation_p.R479C|PRKCSH_ENST00000252455.2_Missense_Mutation_p.R482C|PRKCSH_ENST00000589838.1_Missense_Mutation_p.R482C|PRKCSH_ENST00000592741.1_Missense_Mutation_p.R489C			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	482					innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						TCCCCAGGTGCGCCTCCTGTG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	46	48			NA	NA	19		NA											NA				11560084		2203	4300	6503	SO:0001583	missense				CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	5589	5589	2.7.11.1	EF-hand domain containing	9411	protein-coding gene	gene with protein product		177060	polycystic liver disease	G19P1, PCLD, PLD1	NA	12529853	Standard		NM_002743	NA	Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000591462.1:c.1435C>T	19.37:g.11560084C>T	ENSP00000465489:p.Arg479Cys	NA	Q96BU9|Q96D06|Q9P0W9	37	CCDS45977.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921617	0.52653	.	.	ENSG00000130175	ENST00000252455;ENST00000412601	T;T	0.77229	-1.08;-1.08	3.46	2.3	0.28687	Mannose-6-phosphate receptor, binding (1);	0.293432	0.28493	N	0.015158	T	0.80292	0.4596	L	0.52011	1.625	0.44762	D	0.997761	D;D;D;D	0.89917	1.0;1.0;0.99;1.0	D;D;P;D	0.65874	0.939;0.939;0.86;0.939	T	0.77608	-0.2524	10	0.38643	T	0.18	-25.7659	8.2518	0.31730	0.4322:0.5678:0.0:0.0	.	489;489;479;482	E7EQZ9;B4DJQ5;A8K318;P14314	.;.;.;GLU2B_HUMAN	C	482;479	ENSP00000252455:R482C;ENSP00000395616:R479C	ENSP00000252455:R482C	R	+	1	0	PRKCSH	11421084	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	2.509000	0.45459	1.928000	0.55862	0.563000	0.77884	CGC	PRKCSH-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458806.1		+	ENST00000591462.1	Missense_Mutation	SNP	19 : 11560084 - 11560084 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	531	84
SASH1	23328	broad.mit.edu	37	6	148865907	148865907	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:148865907C>A	ENST00000367467.3	+	18	3776	c.3301C>A	c.(3301-3303)Ctg>Atg	p.L1101M		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1101							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TGAAAACAAGCTGCACGCTGA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	34	34			NA	NA	6		NA											NA				148865907		2203	4300	6503	SO:0001583	missense			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961	23328	23328		SAM and SH3 domain containing, Sterile alpha motif (SAM) domain containing	19182	protein-coding gene	gene with protein product		607955			NA	9872452, 12771949	Standard	NM_015278	NM_015278	NA	Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.3301C>A	6.37:g.148865907C>A	ENSP00000356437:p.Leu1101Met	NA	Q5TGN5|Q8TAI0|Q9H7R7	37	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.622732	0.46840	.	.	ENSG00000111961	ENST00000367467;ENST00000537769	T	0.59906	0.23	5.11	0.216	0.15258	.	0.000000	0.85682	D	0.000000	T	0.27384	0.0672	N	0.20986	0.625	0.33179	D	0.549298	D;D	0.53312	0.959;0.959	P;P	0.47744	0.556;0.556	T	0.12760	-1.0535	10	0.51188	T	0.08	-9.1589	6.814	0.23820	0.1209:0.5368:0.0:0.3422	.	1082;1101	Q6P4R9;O94885	.;SASH1_HUMAN	M	1101;511	ENSP00000356437:L1101M	ENSP00000356437:L1101M	L	+	1	2	SASH1	148907600	0.996000	0.38824	0.481000	0.27354	0.759000	0.43091	0.410000	0.21098	0.107000	0.17824	0.655000	0.94253	CTG	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042619.1		+	ENST00000367467.3	Missense_Mutation	SNP	6 : 148865907 - 148865907 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	64	12
ENOX1	55068	broad.mit.edu	37	13	43935567	43935567	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:43935567A>C	ENST00000261488.6	-	6	807	c.230T>G	c.(229-231)tTt>tGt	p.F77C	ENOX1_ENST00000412891.1_Missense_Mutation_p.F77C	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	77					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GCTTGGATCAAAGCCTGGGAC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	85	83			NA	NA	13		NA											NA				43935567		2203	4300	6503	SO:0001583	missense			EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658	55068	55068		RNA binding motif (RRM) containing	25474	protein-coding gene	gene with protein product		610914			NA	11360993	Standard	NM_017993	NM_001127615	NA	Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.230T>G	13.37:g.43935567A>C	ENSP00000261488:p.Phe77Cys	NA	A4GU15|A6NMH9|Q2TU81|Q5VT11|Q9NWE0	37	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	A	18.99	3.739477	0.69304	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.50001	0.76;0.76	5.52	5.52	0.82312	.	0.055352	0.64402	D	0.000001	T	0.59500	0.2198	L	0.55481	1.735	0.80722	D	1	D	0.69078	0.997	P	0.56865	0.808	T	0.63251	-0.6679	10	0.72032	D	0.01	-7.1115	15.6384	0.76973	1.0:0.0:0.0:0.0	.	77	Q8TC92	ENOX1_HUMAN	C	77	ENSP00000261488:F77C;ENSP00000415054:F77C	ENSP00000261488:F77C	F	-	2	0	ENOX1	42833567	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.053000	0.76641	2.105000	0.64084	0.533000	0.62120	TTT	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044717.2		-	ENST00000261488.6	Missense_Mutation	SNP	13 : 43935567 - 43935567 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	328	51
XIRP2	129446	broad.mit.edu	37	2	168108257	168108257	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168108257A>C	ENST00000409195.1	+	9	10444	c.10355A>C	c.(10354-10356)aAg>aCg	p.K3452T	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K3230T|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.K3452T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3277					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGTGACTTCAAGCATGCCCCA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	61	60			NA	NA	2		NA											NA				168108257		1914	4139	6053	SO:0001583	missense			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092	129446	129446			14303	protein-coding gene	gene with protein product	myomaxin	609778	cardiomyopathy associated 3	CMYA3	NA	17046827, 12203715, 15454575	Standard	NM_152381	NM_001079810	NA	Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.10355A>C	2.37:g.168108257A>C	ENSP00000386840:p.Lys3452Thr	NA	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.114071	0.77210	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.03496	3.92;3.92;3.91	6.16	6.16	0.99307	.	0.184931	0.49916	D	0.000125	T	0.18087	0.0434	M	0.71581	2.175	0.49213	D	0.999768	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.997;0.999;0.964	T	0.00035	-1.2259	10	0.72032	D	0.01	-20.7223	15.7887	0.78332	1.0:0.0:0.0:0.0	.	3277;3277;3230	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	T	3452;3452;3230;866	ENSP00000386840:K3452T;ENSP00000295237:K3452T;ENSP00000387255:K3230T	ENSP00000295237:K3452T	K	+	2	0	XIRP2	167816503	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.501000	0.45389	2.367000	0.80283	0.528000	0.53228	AAG	XIRP2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333547.1		+	ENST00000409195.1	Missense_Mutation	SNP	2 : 168108257 - 168108257 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	343	70
IRX1	79192	broad.mit.edu	37	5	3599698	3599698	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:3599698C>T	ENST00000302006.3	+	2	688	c.636C>T	c.(634-636)ggC>ggT	p.G212G	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	212						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACACCGAGGGCGACCCGGAGA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	60	62			NA	NA	5		NA											NA				3599698		2203	4300	6503	SO:0001819	synonymous_variant			U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549	79192	79192		Homeoboxes / TALE class	14358	protein-coding gene	gene with protein product		606197			NA		Standard	NM_024337	NM_024337	NA	Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.636C>T	5.37:g.3599698C>T		NA	Q7Z2F8|Q8N312	37	CCDS34132.1																																																																																			IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365546.1		+	ENST00000302006.3	Silent	SNP	5 : 3599698 - 3599698 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	325	15
KIAA1549L	25758	broad.mit.edu	37	11	33572673	33572673	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33572673G>A	ENST00000321505.4	+	4	2878	c.2698G>A	c.(2698-2700)Gaa>Aaa	p.E900K	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.E906K|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.E906K					KIAA1549-like	NA											NA						TGTGGTGATCGAAATGCTGGG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													210	211	210			NA	NA	11		NA											NA				33572673		2165	4265	6430	SO:0001583	missense			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427	25758	25758			24836	protein-coding gene	gene with protein product		612297	chromosome 11 open reading frame 69, chromosome 11 open reading frame 41	C11orf69, C11orf41	NA		Standard	NM_012194	NM_012194	NA	Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.2698G>A	11.37:g.33572673G>A	ENSP00000315295:p.Glu900Lys	NA		37	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222933	0.58668	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	6.17	6.17	0.99709	.	0.421117	0.29273	N	0.012636	T	0.59335	0.2186	L	0.27053	0.805	0.39925	D	0.974203	D;D	0.61080	0.957;0.989	B;P	0.52758	0.225;0.708	T	0.61043	-0.7142	9	0.54805	T	0.06	-4.4623	18.6524	0.91435	0.0:0.0:1.0:0.0	.	906;906	E9PAT2;Q6ZVL6-2	.;.	K	900;906;906;739	.	ENSP00000265654:E906K	E	+	1	0	C11orf41	33529249	1.000000	0.71417	0.110000	0.21437	0.185000	0.23345	7.224000	0.78042	2.941000	0.99782	0.655000	0.94253	GAA	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317998.1		+	ENST00000321505.4	Missense_Mutation	SNP	11 : 33572673 - 33572673 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	786	286
ZNF638	27332	broad.mit.edu	37	2	71654323	71654323	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71654323T>G	ENST00000409544.1	+	24	5954	c.5324T>G	c.(5323-5325)gTt>gGt	p.V1775G	ZNF638_ENST00000264447.4_Missense_Mutation_p.V1775G|ZNF638_ENST00000409407.1_Missense_Mutation_p.V715G|ZNF638_ENST00000355812.3_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1775					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CTTAATTTTGTTACTGTTGAT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	109	107			NA	NA	2		NA											NA				71654323		2203	4300	6503	SO:0001583	missense			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292	27332	27332		RNA binding motif (RRM) containing	17894	protein-coding gene	gene with protein product		614349	zinc finger, matrin-like	ZFML	NA	8647861	Standard	NM_014497	NM_014497	NA	Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.5324T>G	2.37:g.71654323T>G	ENSP00000386433:p.Val1775Gly	NA	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	37	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	T	19.41	3.821830	0.71028	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407	T;T;T	0.50813	0.73;0.73;1.13	5.71	5.71	0.89125	.	0.000000	0.47093	D	0.000259	T	0.54464	0.1860	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.975	T	0.56962	-0.7892	10	0.49607	T	0.09	-14.1295	13.9308	0.63994	0.0:0.0:0.0:1.0	.	1775;1775	Q14966-3;Q14966	.;ZN638_HUMAN	G	1775;1775;715	ENSP00000264447:V1775G;ENSP00000386433:V1775G;ENSP00000386813:V715G	ENSP00000264447:V1775G	V	+	2	0	ZNF638	71507831	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.904000	0.69886	2.169000	0.68431	0.533000	0.62120	GTT	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327431.1		+	ENST00000409544.1	Missense_Mutation	SNP	2 : 71654323 - 71654323 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	801	142
SLC22A3	6581	broad.mit.edu	37	6	160858187	160858187	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160858187C>T	ENST00000275300.2	+	7	1384	c.1232C>T	c.(1231-1233)gCg>gTg	p.A411V	SLC22A3_ENST00000392145.1_Missense_Mutation_p.A411V	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	411						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		CTCCCCTTTGCGGCAAGCAAT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	144	142			NA	NA	6		NA											NA				160858187		2203	4300	6503	SO:0001583	missense			AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477	6581	6581		Solute carriers	10967	protein-coding gene	gene with protein product		604842	solute carrier family 22 (extraneuronal monoamine transporter), member 3		NA	9632645, 9933568	Standard	NM_021977	NM_021977	NA	Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.1232C>T	6.37:g.160858187C>T	ENSP00000275300:p.Ala411Val	NA	Q9UP02	37	CCDS5277.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495541	0.64186	.	.	ENSG00000146477	ENST00000275300;ENST00000392145	T;T	0.58652	0.32;0.47	5.83	5.83	0.93111	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.46502	0.1396	M	0.63843	1.955	0.35287	D	0.78182	D	0.60160	0.987	P	0.45232	0.474	T	0.54899	-0.8224	10	0.41790	T	0.15	.	12.5881	0.56428	0.0:0.9242:0.0:0.0758	.	411	O75751	S22A3_HUMAN	V	411	ENSP00000275300:A411V;ENSP00000375989:A411V	ENSP00000275300:A411V	A	+	2	0	SLC22A3	160778177	0.987000	0.35691	0.000000	0.03702	0.974000	0.67602	2.768000	0.47645	2.756000	0.94617	0.655000	0.94253	GCG	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042953.1		+	ENST00000275300.2	Missense_Mutation	SNP	6 : 160858187 - 160858187 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	888	174
RIPK4	54101	broad.mit.edu	37	21	43161895	43161895	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43161895G>A	ENST00000332512.3	-	8	1522	c.1458C>T	c.(1456-1458)gtC>gtT	p.V486V	RIPK4_ENST00000542057.1_Silent_p.V423V|RIPK4_ENST00000544709.1_Silent_p.V423V|RIPK4_ENST00000352483.2_Silent_p.V534V	NM_020639.2	NP_065690.2	Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	486						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGAGCTCCACGACACCCCGCA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	87	92			NA	NA	21		NA											NA				43161895		2203	4300	6503	SO:0001819	synonymous_variant			AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421	54101	54101		Ankyrin repeat domain containing	496	protein-coding gene	gene with protein product	protein kinase C-associated kinase, PKC-delta-interacting protein kinase	605706	ankyrin repeat domain 3	ANKRD3	NA	10830953	Standard	NM_020639	NM_020639	NA	Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000332512.3:c.1458C>T	21.37:g.43161895G>A		NA		37	CCDS13675.1																																																																																			RIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195204.1		-	ENST00000332512.3	Silent	SNP	21 : 43161895 - 43161895 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	551	120
DNAJC5	80331	broad.mit.edu	37	20	62560765	62560765	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62560765G>A	ENST00000360864.4	+	3	361	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	DNAJC5_ENST00000369911.2_Missense_Mutation_p.A70T	NM_025219.2	NP_079495.1	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	70	J.				neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCTCACGGACGCCACAAAAAG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	123	135			NA	NA	20		NA											NA				62560765		2203	4300	6503	SO:0001583	missense				CCDS13546.1	20q13.33	2014-09-17			ENSG00000101152	ENSG00000101152	80331	80331		Heat shock proteins / DNAJ (HSP40)	16235	protein-coding gene	gene with protein product		611203	ceroid-lipofuscinosis, neuronal 4 (Kufs disease)	CLN4	NA		Standard	NM_025219	NM_025219	NA	Approved	FLJ00118, FLJ13070, DNAJC5A	uc002yhf.3	Q9H3Z4	OTTHUMG00000033007	ENST00000360864.4:c.208G>A	20.37:g.62560765G>A	ENSP00000354111:p.Ala70Thr	NA	A8K0M0|B3KY68|E1P5G8|Q9H3Z5|Q9H7H2	37	CCDS13546.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974454	0.53720	.	.	ENSG00000101152	ENST00000369911;ENST00000360864	T;T	0.29917	1.55;1.55	5.4	4.44	0.53790	Heat shock protein DnaJ, N-terminal (5);Heat shock protein DnaJ, conserved site (1);	0.051899	0.85682	D	0.000000	T	0.21590	0.0520	N	0.17278	0.47	0.37425	D	0.913797	B;B	0.19583	0.014;0.037	B;B	0.13407	0.005;0.009	T	0.06588	-1.0818	10	0.41790	T	0.15	.	16.0043	0.80349	0.0:0.0:0.8645:0.1355	.	70;70	Q9H3Z4-2;Q9H3Z4	.;DNJC5_HUMAN	T	70	ENSP00000358927:A70T;ENSP00000354111:A70T	ENSP00000354111:A70T	A	+	1	0	DNAJC5	62031209	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.856000	0.55964	1.409000	0.46915	0.650000	0.86243	GCC	DNAJC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080244.1		+	ENST00000360864.4	Missense_Mutation	SNP	20 : 62560765 - 62560765 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	522	90
SFMBT2	57713	broad.mit.edu	37	10	7326106	7326106	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7326106G>A	ENST00000361972.4	-	6	622	c.532C>T	c.(532-534)Cga>Tga	p.R178*	SFMBT2_ENST00000397167.1_Nonsense_Mutation_p.R178*	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	178					regulation of transcription, DNA-dependent	nucleus		p.R178*(2)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CCTTTCCCTCGCAGAGGCTGT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Nonsense(2)	skin(2)											63	63	63			NA	NA	10		NA											NA				7326106		2202	4298	6500	SO:0001587	stop_gained			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879	57713	57713		Sterile alpha motif (SAM) domain containing	20256	protein-coding gene	gene with protein product		615392	Scm-related gene containing four mbt domains 2		NA	10997877	Standard	NM_001029880	NM_001029880	NA	Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.532C>T	10.37:g.7326106G>A	ENSP00000355109:p.Arg178*	NA	A7MD09|Q9HCF5	37	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	g	22.9	4.353451	0.82243	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	.	.	.	4.45	4.45	0.53987	.	0.063541	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	17.4436	0.87572	0.0:0.0:1.0:0.0	.	.	.	.	X	178	.	ENSP00000355109:R178X	R	-	1	2	SFMBT2	7366112	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.897000	0.56273	2.195000	0.70347	0.431000	0.28591	CGA	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046673.1		-	ENST00000361972.4	Nonsense_Mutation	SNP	10 : 7326106 - 7326106 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	528	59
ZC3H12C	85463	broad.mit.edu	37	11	110035963	110035963	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110035963G>A	ENST00000528673.1	+	6	2235	c.2156G>A	c.(2155-2157)cGg>cAg	p.R719Q	ZC3H12C_ENST00000278590.3_Missense_Mutation_p.R718Q|ZC3H12C_ENST00000453089.2_Missense_Mutation_p.R687Q			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	718							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GTGGGCGCCCGGTCCAGCTGT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	161	154			NA	NA	11		NA											NA				110035963		2144	4233	6377	SO:0001583	missense				CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289	85463	85463		Zinc fingers, CCCH-type domain containing	29362	protein-coding gene	gene with protein product	MCP induced protein 3	615001			NA	11214970, 18178554	Standard	NM_033390	NM_033390	NA	Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000528673.1:c.2156G>A	11.37:g.110035963G>A	ENSP00000431821:p.Arg719Gln	NA		37		.	.	.	.	.	.	.	.	.	.	G	28.3	4.909367	0.92107	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.37584	1.19;1.19;1.21	5.94	5.94	0.96194	.	0.249928	0.40144	N	0.001167	T	0.60932	0.2307	M	0.68593	2.085	0.43703	D	0.996161	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72625	0.978;0.978;0.978	T	0.55617	-0.8113	10	0.44086	T	0.13	-20.721	20.3591	0.98849	0.0:0.0:1.0:0.0	.	719;718;718	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	Q	718;719;687	ENSP00000278590:R718Q;ENSP00000431821:R719Q;ENSP00000413094:R687Q	ENSP00000278590:R718Q	R	+	2	0	ZC3H12C	109541173	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.331000	0.72929	2.816000	0.96949	0.561000	0.74099	CGG	ZC3H12C-003	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000390492.1		+	ENST00000528673.1	Missense_Mutation	SNP	11 : 110035963 - 110035963 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1098	243
DHX57	90957	broad.mit.edu	37	2	39082360	39082360	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39082360G>T	ENST00000295373.6	-	8	1870	c.1744C>A	c.(1744-1746)Ctg>Atg	p.L582M		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	582	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GAATCATCCAGAATAAACTGC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(191;1090 2095 4375 23729 47341)							NA				0													124	119	120			NA	NA	2		NA											NA				39082360		2203	4300	6503	SO:0001583	missense			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214	90957	90957		DEAH-boxes	20086	protein-coding gene	gene with protein product					NA		Standard	NM_145646	NM_198963	NA	Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.1744C>A	2.37:g.39082360G>T	ENSP00000295373:p.Leu582Met	NA	A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	37	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564249	0.65651	.	.	ENSG00000163214	ENST00000295373	T	0.07688	3.17	5.26	4.38	0.52667	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.40728	N	0.001022	T	0.24353	0.0590	M	0.74546	2.27	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.00862	-1.1536	10	0.66056	D	0.02	.	6.7108	0.23276	0.3053:0.0:0.6947:0.0	.	582;582;582	Q6P158-2;Q6P158;B4DKW2	.;DHX57_HUMAN;.	M	582	ENSP00000295373:L582M	ENSP00000295373:L582M	L	-	1	2	DHX57	38935864	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.516000	0.53436	1.350000	0.45770	0.650000	0.86243	CTG	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219940.2		-	ENST00000295373.6	Missense_Mutation	SNP	2 : 39082360 - 39082360 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	873	222
AHCTF1	25909	broad.mit.edu	37	1	247013648	247013648	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247013648A>C	ENST00000366508.1	-	33	5901	c.5765T>G	c.(5764-5766)aTt>aGt	p.I1922S	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Missense_Mutation_p.I1887S|AHCTF1_ENST00000326225.3_Missense_Mutation_p.I1896S			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1887	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ATCATTTATAATTTCAACACT	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(145;197 1800 4745 15099 26333)							NA				0													47	50	49			NA	NA	1		NA											NA				247013648		2188	4284	6472	SO:0001583	missense				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207	25909	25909			24618	protein-coding gene	gene with protein product	ELYS transcription factor like protein TMBS62	610853			NA	11952839	Standard	NM_015446	NM_015446	NA	Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000366508.1:c.5765T>G	1.37:g.247013648A>C	ENSP00000355464:p.Ile1922Ser	NA	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	37		.	.	.	.	.	.	.	.	.	.	A	4.158	0.027809	0.08054	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.32023	1.47;1.48;1.48	5.51	4.38	0.52667	.	0.533640	0.19487	N	0.113088	T	0.19366	0.0465	L	0.36672	1.1	0.09310	N	1	B;B;B	0.28850	0.225;0.029;0.017	B;B;B	0.30316	0.114;0.009;0.004	T	0.25984	-1.0116	10	0.08381	T	0.77	-8.8873	5.734	0.18057	0.7059:0.1436:0.1505:0.0	.	748;1922;1887	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	S	1922;1896;1887	ENSP00000355464:I1922S;ENSP00000355465:I1896S;ENSP00000375705:I1887S	ENSP00000355465:I1896S	I	-	2	0	AHCTF1	245080271	0.000000	0.05858	0.691000	0.30163	0.930000	0.56654	0.611000	0.24268	1.018000	0.39521	0.533000	0.62120	ATT	AHCTF1-001	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000097817.1		-	ENST00000366508.1	Missense_Mutation	SNP	1 : 247013648 - 247013648 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	422	113
ASIC5	51802	broad.mit.edu	37	4	156764950	156764950	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156764950G>A	ENST00000537611.2	-	5	790	c.744C>T	c.(742-744)ttC>ttT	p.F248F		NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	248						integral to membrane|plasma membrane					NA						CAGCATCAACGAAACCAAGGG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	100	108			NA	NA	4		NA											NA				156764950		2203	4300	6503	SO:0001819	synonymous_variant			AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394	51802	51802			17537	protein-coding gene	gene with protein product			amiloride-sensitive cation channel 5, intestinal	ACCN5	NA	10767424	Standard		NM_017419	NA	Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.744C>T	4.37:g.156764950G>A		NA		37	CCDS3793.1																																																																																			ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366464.1		-	ENST00000537611.2	Silent	SNP	4 : 156764950 - 156764950 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	335	75
PIWIL4	143689	broad.mit.edu	37	11	94310447	94310447	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94310447C>A	ENST00000299001.6	+	4	513	c.302C>A	c.(301-303)tCc>tAc	p.S101Y	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	101					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCTTCAGGTTCCAGTGGAATA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	53	54			NA	NA	11		NA											NA				94310447		2201	4298	6499	SO:0001583	missense			AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627	143689	143689		Argonaute/PIWI family	18444	protein-coding gene	gene with protein product		610315	piwi-like 4 (Drosophila)		NA	12906857	Standard	NM_152431	NM_152431	NA	Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.302C>A	11.37:g.94310447C>A	ENSP00000299001:p.Ser101Tyr	NA	B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	37	CCDS31656.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.884465	0.72410	.	.	ENSG00000134627	ENST00000299001;ENST00000545603	T;T	0.15487	2.42;2.42	5.28	5.28	0.74379	.	0.194570	0.33938	N	0.004404	T	0.36744	0.0978	M	0.79475	2.455	0.80722	D	1	D	0.52996	0.957	P	0.52627	0.704	T	0.19976	-1.0289	10	0.87932	D	0	-21.238	17.8577	0.88771	0.0:1.0:0.0:0.0	.	101	Q7Z3Z4	PIWL4_HUMAN	Y	101;32	ENSP00000299001:S101Y;ENSP00000440499:S32Y	ENSP00000299001:S101Y	S	+	2	0	PIWIL4	93950095	0.986000	0.35501	1.000000	0.80357	0.857000	0.48899	1.039000	0.30266	2.746000	0.94184	0.655000	0.94253	TCC	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396388.1		+	ENST00000299001.6	Missense_Mutation	SNP	11 : 94310447 - 94310447 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	285	37
SFTPC	6440	broad.mit.edu	37	8	22021513	22021513	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22021513G>A	ENST00000524255.1	+	4	416	c.394G>A	c.(394-396)Gtg>Atg	p.V132M	SFTPC_ENST00000521315.1_Missense_Mutation_p.V179M|SFTPC_ENST00000522109.1_3'UTR|SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000437090.2_3'UTR|SFTPC_ENST00000318561.3_Missense_Mutation_p.V185M			P11686	PSPC_HUMAN	surfactant protein C	185	BRICHOS.				respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGGCATGGCCGTGAGCACCCT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	53	50			NA	NA	8		NA											NA				22021513		2044	4179	6223	SO:0001583	missense				CCDS43722.1, CCDS55209.1	8p21	2012-10-10	2008-08-26		ENSG00000168484	ENSG00000168484	6440	6440		BRICHOS domain containing	10802	protein-coding gene	gene with protein product	BRICHOS domain containing 6	178620	surfactant, pulmonary-associated protein C	SFTP2	NA	1859376, 16709565	Standard	NM_003018	NM_003018	NA	Approved	SP-C, PSP-C, SMDP2, BRICD6	uc003xay.4	P11686	OTTHUMG00000163775	ENST00000524255.1:c.394G>A	8.37:g.22021513G>A	ENSP00000429552:p.Val132Met	NA	A6XNE4|B2RE00|P11687|Q12793|Q7Z5D0	37		.	.	.	.	.	.	.	.	.	.	G	11.77	1.738685	0.30774	.	.	ENSG00000168484	ENST00000318561;ENST00000521315;ENST00000524255	D;D;D	0.81739	-1.53;-1.53;-1.53	5.5	-2.12	0.07165	BRICHOS (2);	0.969423	0.08458	N	0.942799	T	0.60418	0.2267	L	0.35288	1.05	0.19575	N	0.999963	B;P	0.34800	0.141;0.469	B;B	0.21708	0.036;0.036	T	0.50303	-0.8844	10	0.41790	T	0.15	-20.3838	0.8375	0.01142	0.3083:0.3001:0.2394:0.1522	.	179;185	E9PGX3;P11686	.;PSPC_HUMAN	M	185;179;132	ENSP00000316152:V185M;ENSP00000430410:V179M;ENSP00000429552:V132M	ENSP00000316152:V185M	V	+	1	0	SFTPC	22077458	0.000000	0.05858	0.026000	0.17262	0.897000	0.52465	-0.533000	0.06157	-0.254000	0.09500	0.650000	0.86243	GTG	SFTPC-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000375370.1		+	ENST00000524255.1	Missense_Mutation	SNP	8 : 22021513 - 22021513 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	448	77
COPRS	55352	broad.mit.edu	37	17	30180005	30180005	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30180005C>T	ENST00000378634.2	-	3	428	c.175G>A	c.(175-177)Gag>Aag	p.E59K	COPRS_ENST00000302362.6_Missense_Mutation_p.E71K					coordinator of PRMT5, differentiation stimulator	NA											NA						TGGGTGCCCTCACCCCGGGCA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													177	181	180			NA	NA	17		NA											NA				30180005		2203	4300	6503	SO:0001583	missense			AJ272196	CCDS11268.1	17q11.2	2012-11-16	2012-11-16	2012-11-16	ENSG00000172301	ENSG00000172301	55352	55352			28848	protein-coding gene	gene with protein product	cooperator of PRMT5		chromosome 17 open reading frame 79	C17orf79	NA	10843809, 18404153	Standard	NM_018405	NM_018405	NA	Approved	TTP1, HSA272196, COPR5	uc002hgp.3	Q9NQ92	OTTHUMG00000132812	ENST00000378634.2:c.175G>A	17.37:g.30180005C>T	ENSP00000367901:p.Glu59Lys	NA		37		.	.	.	.	.	.	.	.	.	.	C	18.80	3.701964	0.68501	.	.	ENSG00000172301	ENST00000302362;ENST00000378634	T;T	0.49139	0.79;0.79	5.79	3.25	0.37280	.	0.335010	0.23813	N	0.044309	T	0.33235	0.0856	L	0.34521	1.04	0.09310	N	1	B	0.28998	0.23	B	0.27170	0.077	T	0.27434	-1.0074	10	0.72032	D	0.01	-12.8105	6.3167	0.21194	0.0:0.7003:0.1642:0.1354	.	71	Q9NQ92	COPR5_HUMAN	K	71;59	ENSP00000304327:E71K;ENSP00000367901:E59K	ENSP00000304327:E71K	E	-	1	0	C17orf79	27204118	0.114000	0.22134	0.033000	0.17914	0.012000	0.07955	1.176000	0.31957	0.483000	0.27608	0.563000	0.77884	GAG	COPRS-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000256258.1		-	ENST00000378634.2	Missense_Mutation	SNP	17 : 30180005 - 30180005 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1302	217
SSFA2	6744	broad.mit.edu	37	2	182783536	182783536	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182783536C>T	ENST00000409136.1	+	5	1559	c.1447C>T	c.(1447-1449)Caa>Taa	p.Q483*	SSFA2_ENST00000320370.7_Nonsense_Mutation_p.Q974*|SSFA2_ENST00000431877.2_Nonsense_Mutation_p.Q974*|SSFA2_ENST00000409001.1_Nonsense_Mutation_p.Q974*|SSFA2_ENST00000428267.2_Nonsense_Mutation_p.Q821*			P28290	SSFA2_HUMAN	sperm specific antigen 2	974						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GTTTAGAACACAAATGATGGA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	71	70			NA	NA	2		NA											NA				182783536		2203	4300	6503	SO:0001587	stop_gained			M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434	6744	6744			11319	protein-coding gene	gene with protein product	cleavage signal-1 protein, KRAS-induced actin-interacting protein, sperm associated antigen 13	118990			NA	1555770	Standard	NM_006751	XM_005246812	NA	Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000409136.1:c.1447C>T	2.37:g.182783536C>T	ENSP00000386916:p.Gln483*	NA	A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.729520|9.729520	0.99249|0.99249	.|.	.|.	ENSG00000138434|ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136|ENST00000457421	.|.	.|.	.|.	6.11|6.11	6.11|6.11	0.99139|0.99139	.|.	0.051759|.	0.85682|.	D|.	0.000000|.	.|D	.|0.83440	.|0.5255	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.83973	.|0.0328	.|4	0.32370|0.87932	T|D	0.25|0	-15.6619|-15.6619	20.7342|20.7342	0.99715|0.99715	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	974;974;974;821;483|12	.|.	ENSP00000314669:Q974X|ENSP00000390457:T12I	Q|T	+|+	1|2	0|0	SSFA2|SSFA2	182491781|182491781	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.538000|6.538000	0.73852|0.73852	2.906000|2.906000	0.99361|0.99361	0.655000|0.655000	0.94253|0.94253	CAA|ACA	SSFA2-009	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000334804.1		+	ENST00000409136.1	Nonsense_Mutation	SNP	2 : 182783536 - 182783536 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	319	53
URB2	9816	broad.mit.edu	37	1	229795022	229795022	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229795022G>A	ENST00000258243.2	+	10	4689	c.4553G>A	c.(4552-4554)gGa>gAa	p.G1518E		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1518						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						AAACATGAAGGAGAGAAAAGA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	110	108			NA	NA	1		NA											NA				229795022		2203	4300	6503	SO:0001583	missense			D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763	9816	9816			28967	protein-coding gene	gene with protein product	nucleolar preribosomal-associated protein 1		KIAA0133	KIAA0133	NA	8590280	Standard	NM_014777	NM_014777	NA	Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.4553G>A	1.37:g.229795022G>A	ENSP00000258243:p.Gly1518Glu	NA	Q5VYC9	37	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282062	0.80692	.	.	ENSG00000135763	ENST00000258243	T	0.50548	0.74	5.5	5.5	0.81552	.	0.050544	0.85682	D	0.000000	T	0.63046	0.2478	M	0.61703	1.905	0.58432	D	0.999998	D	0.76494	0.999	D	0.64144	0.922	T	0.61695	-0.7010	9	.	.	.	-11.8818	14.6098	0.68507	0.0:0.1456:0.8543:0.0	.	1518	Q14146	URB2_HUMAN	E	1518	ENSP00000258243:G1518E	.	G	+	2	0	URB2	227861645	1.000000	0.71417	0.663000	0.29738	0.965000	0.64279	6.264000	0.72527	2.576000	0.86940	0.650000	0.86243	GGA	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095232.1		+	ENST00000258243.2	Missense_Mutation	SNP	1 : 229795022 - 229795022 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	864	219
BRF2	55290	broad.mit.edu	37	8	37702272	37702272	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37702272C>T	ENST00000220659.6	-	4	1116	c.996G>A	c.(994-996)ggG>ggA	p.G332G	BRF2_ENST00000520601.1_3'UTR|GPR124_ENST00000315215.7_3'UTR	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	332					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			CTTCTCCTTGCCCCTGTCCCC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	40	41			NA	NA	8		NA											NA				37702272		2203	4300	6503	SO:0001819	synonymous_variant			AF298153	CCDS6098.1	8p11.23	2013-05-29	2013-05-29		ENSG00000104221	ENSG00000104221	55290	55290			17298	protein-coding gene	gene with protein product		607013	BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like		NA	11483580, 11564744	Standard	NM_018310	NM_018310	NA	Approved	FLJ11052, BRFU, TFIIIB50	uc003xkk.3	Q9HAW0	OTTHUMG00000164025	ENST00000220659.6:c.996G>A	8.37:g.37702272C>T		NA	B2RD62|D3DSW6|Q9H2Y3|Q9H3B3|Q9NUY6	37	CCDS6098.1																																																																																			BRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376811.2		-	ENST00000220659.6	Silent	SNP	8 : 37702272 - 37702272 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	269	62
ZKSCAN4	387032	broad.mit.edu	37	6	28213501	28213501	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28213501C>T	ENST00000377294.2	-	5	1274	c.1031G>A	c.(1030-1032)gGt>gAt	p.G344D	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.G189D	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	344					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GGGTTTCTCACCAGTGTGGAT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	111	115			NA	NA	6		NA											NA				28213501		2203	4300	6503	SO:0001583	missense			AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626	387032	387032		Zinc fingers, C2H2-type, -, -, -	13854	protein-coding gene	gene with protein product		611643	zinc finger protein 307, zinc finger protein 427	ZNF307, ZNF427	NA	12477932	Standard	NM_019110	NM_019110	NA	Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.1031G>A	6.37:g.28213501C>T	ENSP00000366509:p.Gly344Asp	NA	B2RE32|Q5U7L4	37	CCDS4647.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.958964	0.74016	.	.	ENSG00000187626	ENST00000377294;ENST00000423974;ENST00000449813;ENST00000356796	T;T	0.01599	4.74;4.74	5.1	5.1	0.69264	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06872	0.0175	M	0.73753	2.245	0.49915	D	0.999836	D	0.89917	1.0	D	0.91635	0.999	T	0.07347	-1.0777	9	0.87932	D	0	.	17.6454	0.88147	0.0:1.0:0.0:0.0	.	344	Q969J2	ZKSC4_HUMAN	D	344;189;50;220	ENSP00000366509:G344D;ENSP00000401978:G189D	ENSP00000349249:G220D	G	-	2	0	ZKSCAN4	28321480	0.969000	0.33509	0.438000	0.26821	0.499000	0.33736	4.030000	0.57260	2.522000	0.85027	0.655000	0.94253	GGT	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040179.1		-	ENST00000377294.2	Missense_Mutation	SNP	6 : 28213501 - 28213501 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	459	93
COG1	9382	broad.mit.edu	37	17	71197321	71197321	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71197321T>G	ENST00000299886.4	+	7	1435	c.1355T>G	c.(1354-1356)cTt>cGt	p.L452R		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	452					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			TTGCAGGAACTTGAAAGCAGC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	115	117			NA	NA	17		NA											NA				71197321		2203	4300	6503	SO:0001583	missense				CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685	9382	9382		Components of oligomeric golgi complex	6545	protein-coding gene	gene with protein product		606973	low density lipoprotein receptor defect B complementing	LDLB	NA	9927668	Standard		NM_018714	NA	Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.1355T>G	17.37:g.71197321T>G	ENSP00000299886:p.Leu452Arg	NA	Q9NPV9|Q9P2G6	37	CCDS11692.1	.	.	.	.	.	.	.	.	.	.	T	10.50	1.368777	0.24771	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.30182	1.54;1.54	5.28	4.17	0.49024	.	0.126983	0.53938	N	0.000047	T	0.52853	0.1760	M	0.77616	2.38	0.58432	D	0.999998	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.73708	0.959;0.981;0.959	T	0.50931	-0.8769	10	0.29301	T	0.29	-13.324	12.3305	0.55038	0.0:0.0:0.1416:0.8584	.	452;452;452	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	R	452	ENSP00000400111:L452R;ENSP00000299886:L452R	ENSP00000299886:L452R	L	+	2	0	COG1	68708916	1.000000	0.71417	0.116000	0.21606	0.749000	0.42624	7.457000	0.80775	0.906000	0.36621	0.533000	0.62120	CTT	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000441638.1		+	ENST00000299886.4	Missense_Mutation	SNP	17 : 71197321 - 71197321 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	679	126
ADH5	128	broad.mit.edu	37	4	99998042	99998042	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:99998042C>T	ENST00000296412.8	-	5	427	c.377G>A	c.(376-378)gGt>gAt	p.G126D	ADH5_ENST00000512991.1_5'UTR	NM_000671.3	NP_000662.3	P11766	ADHX_HUMAN	alcohol dehydrogenase 5 (class III), chi polypeptide	126					ethanol oxidation|response to redox state		alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	NADH(DB00157)	TCTGCTGGTACCATCTGGCAT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	34	34			NA	NA	4		NA											NA				99998042		1844	4077	5921	SO:0001583	missense			M29872	CCDS47111.1	4q23	2012-07-13	2003-06-19		ENSG00000197894	ENSG00000197894	128	128	1.1.1.284	Alcohol dehydrogenases	253	protein-coding gene	gene with protein product		103710	formaldehyde dehydrogenase	FDH	NA	1446828, 6424546	Standard	NM_000671	NM_000671	NA	Approved	ADH-3, ADHX	uc003hui.3	P11766	OTTHUMG00000161230	ENST00000296412.8:c.377G>A	4.37:g.99998042C>T	ENSP00000296412:p.Gly126Asp	NA	Q6FHR2	37	CCDS47111.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.413953	0.62511	.	.	ENSG00000197894	ENST00000296412;ENST00000503130	T;T	0.03717	3.83;3.83	5.2	4.28	0.50868	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.498508	0.24988	N	0.034012	T	0.15176	0.0366	M	0.88906	2.99	0.58432	D	0.999993	P;P;P	0.43519	0.809;0.809;0.809	P;P;P	0.50825	0.651;0.651;0.651	T	0.00206	-1.1921	9	.	.	.	.	14.3347	0.66581	0.0:0.9184:0.0:0.0816	.	126;126;126	Q5U043;Q6IRT1;P11766	.;.;ADHX_HUMAN	D	126;113	ENSP00000296412:G126D;ENSP00000427049:G113D	.	G	-	2	0	ADH5	100217065	0.002000	0.14202	0.992000	0.48379	0.995000	0.86356	0.281000	0.18810	2.716000	0.92895	0.650000	0.86243	GGT	ADH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364224.1		-	ENST00000296412.8	Missense_Mutation	SNP	4 : 99998042 - 99998042 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	127	9
CCDC25	55246	broad.mit.edu	37	8	27605688	27605688	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27605688G>A	ENST00000356537.4	-	7	550	c.457C>T	c.(457-459)Cgt>Tgt	p.R153C	RP11-16P20.3_ENST00000521510.1_RNA|CCDC25_ENST00000522915.1_Missense_Mutation_p.R85C|CCDC25_ENST00000539095.1_Missense_Mutation_p.R85C	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	153										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		CTCTCTTCACGATCTCTGCAT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	124	126			NA	NA	8		NA											NA				27605688		2203	4300	6503	SO:0001583	missense			AK001715	CCDS6062.2	8p21.1	2006-09-20			ENSG00000147419	ENSG00000147419	55246	55246			25591	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_018246	NM_018246	NA	Approved	FLJ10853	uc003xgc.3	Q86WR0	OTTHUMG00000132173	ENST00000356537.4:c.457C>T	8.37:g.27605688G>A	ENSP00000348933:p.Arg153Cys	NA	Q96SI2|Q9NV98	37	CCDS6062.2	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481698	0.44147	.	.	ENSG00000147419	ENST00000356537;ENST00000539095;ENST00000522915	.	.	.	5.37	5.37	0.77165	.	0.205907	0.40469	N	0.001099	T	0.59514	0.2199	L	0.52823	1.66	0.53688	D	0.999978	B	0.14012	0.009	B	0.06405	0.002	T	0.56655	-0.7943	9	0.48119	T	0.1	-0.3323	16.5983	0.84802	0.0:0.0:1.0:0.0	.	153	Q86WR0	CCD25_HUMAN	C	153;85;85	.	ENSP00000348933:R153C	R	-	1	0	CCDC25	27661607	1.000000	0.71417	0.977000	0.42913	0.971000	0.66376	3.308000	0.51896	2.523000	0.85059	0.655000	0.94253	CGT	CCDC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255224.1		-	ENST00000356537.4	Missense_Mutation	SNP	8 : 27605688 - 27605688 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	559	85
SLC34A1	6569	broad.mit.edu	37	5	176813505	176813505	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176813505C>T	ENST00000512593.1	+	5	571	c.470C>T	c.(469-471)aCc>aTc	p.T157I	SLC34A1_ENST00000324417.5_Missense_Mutation_p.T157I	NM_001167579.1	NP_001161051.1	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	157					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCCTGGTGACCGTGCTGGTG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	74	76			NA	NA	5		NA											NA				176813505		2203	4300	6503	SO:0001583	missense			L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183	6569	6569		Solute carriers	11019	protein-coding gene	gene with protein product	sodium/phosphate co-transporter, solute carrier family 17 (sodium phosphate), member 2, Na+-phosphate cotransporter type II	182309	solute carrier family 34 (sodium phosphate), member 1	NPT2, SLC17A2	NA	8327470, 8693007	Standard	NM_003052	NM_003052	NA	Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000512593.1:c.470C>T	5.37:g.176813505C>T	ENSP00000423022:p.Thr157Ile	NA		37	CCDS54953.1	.	.	.	.	.	.	.	.	.	.	C	32	5.141158	0.94560	.	.	ENSG00000131183	ENST00000512593;ENST00000324417	D;D	0.94138	-3.36;-3.36	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.98245	0.9419	H	0.97874	4.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99297	1.0900	10	0.87932	D	0	-28.0744	19.6385	0.95748	0.0:1.0:0.0:0.0	.	157	Q06495	NPT2A_HUMAN	I	157	ENSP00000423022:T157I;ENSP00000321424:T157I	ENSP00000321424:T157I	T	+	2	0	SLC34A1	176746111	1.000000	0.71417	0.957000	0.39632	0.944000	0.59088	7.770000	0.85390	2.648000	0.89879	0.563000	0.77884	ACC	SLC34A1-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373162.1		+	ENST00000512593.1	Missense_Mutation	SNP	5 : 176813505 - 176813505 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	625	99
NCEH1	57552	broad.mit.edu	37	3	172351691	172351691	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:172351691G>A	ENST00000475381.1	-	5	1034	c.801C>T	c.(799-801)atC>atT	p.I267I	NCEH1_ENST00000543711.1_Silent_p.I134I|NCEH1_ENST00000273512.3_Silent_p.I299I|NCEH1_ENST00000538775.1_Silent_p.I307I			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	267					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						GATTGTTAACGATCATTGCCT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	110	113			NA	NA	3		NA											NA				172351691		2203	4300	6503	SO:0001819	synonymous_variant			AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959	57552	57552			29260	protein-coding gene	gene with protein product		613234	arylacetamide deacetylase-like 1	AADACL1	NA	10718198	Standard	NM_020792	NM_001146276	NA	Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.801C>T	3.37:g.172351691G>A		NA	B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|Q86WZ1|Q9P2I4	37		.	.	.	.	.	.	.	.	.	.	G	0.019	-1.457690	0.01071	.	.	ENSG00000144959	ENST00000424772	.	.	.	5.61	-11.2	0.00127	.	.	.	.	.	T	0.22126	0.0533	.	.	.	0.30940	N	0.725957	.	.	.	.	.	.	T	0.15093	-1.0449	4	.	.	.	-6.8028	4.8734	0.13644	0.2386:0.2399:0.4538:0.0677	.	.	.	.	L	298	.	.	S	-	2	0	NCEH1	173834385	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.984000	0.01487	-4.969000	0.00025	-2.032000	0.00423	TCG	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000346367.3		-	ENST00000475381.1	Silent	SNP	3 : 172351691 - 172351691 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	369	19
C10orf88	80007	broad.mit.edu	37	10	124692104	124692104	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124692104G>A	ENST00000481909.1	-	6	1401	c.1177C>T	c.(1177-1179)Ctt>Ttt	p.L393F	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	393										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		TAATCCATAAGTTTCTTTTCC	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	93	94			NA	NA	10		NA											NA				124692104		2203	4300	6503	SO:0001583	missense			AK023552	CCDS7632.1	10q26.13	2012-11-09			ENSG00000119965	ENSG00000119965	80007	80007			25822	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024942	NM_024942	NA	Approved	FLJ13490, Em:AC073585.5	uc001lgw.2	Q9H8K7	OTTHUMG00000019190	ENST00000481909.1:c.1177C>T	10.37:g.124692104G>A	ENSP00000419126:p.Leu393Phe	NA	Q0P6C6|Q8N597	37	CCDS7632.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121303	0.56613	.	.	ENSG00000119965	ENST00000481909	.	.	.	4.99	3.11	0.35812	.	0.000000	0.52532	U	0.000075	T	0.72045	0.3412	M	0.79475	2.455	0.40647	D	0.982001	D	0.89917	1.0	D	0.91635	0.999	T	0.74009	-0.3802	9	0.87932	D	0	.	7.8941	0.29695	0.2521:0.0:0.7479:0.0	.	393	Q9H8K7	CJ088_HUMAN	F	393	.	ENSP00000419126:L393F	L	-	1	0	C10orf88	124682094	1.000000	0.71417	0.622000	0.29159	0.897000	0.52465	2.723000	0.47277	1.081000	0.41110	-0.150000	0.13652	CTT	C10orf88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050807.1		-	ENST00000481909.1	Missense_Mutation	SNP	10 : 124692104 - 124692104 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	245	43
SLCO2A1	6578	broad.mit.edu	37	3	133654654	133654654	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133654654G>A	ENST00000493729.1	-	12	1661	c.1550C>T	c.(1549-1551)gCc>gTc	p.A517V	SLCO2A1_ENST00000310926.4_Missense_Mutation_p.A593V			Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	593					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GTAGGCGCAGGCCCCTCGCCT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	65	69			NA	NA	3		NA											NA				133654654		2203	4300	6503	SO:0001583	missense				CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640	6578	6578		Solute carriers	10955	protein-coding gene	gene with protein product		601460	solute carrier family 21 (prostaglandin transporter), member 2, matrin F/G 1	SLC21A2, MATR1	NA	8787677, 9618293	Standard	NM_005630	NM_005630	NA	Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000493729.1:c.1550C>T	3.37:g.133654654G>A	ENSP00000418893:p.Ala517Val	NA	Q86V98|Q8IUN2	37		.	.	.	.	.	.	.	.	.	.	G	1.617	-0.522622	0.04141	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.44881	0.91;0.91	5.4	5.4	0.78164	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.205268	0.50627	D	0.000101	T	0.56790	0.2009	M	0.78344	2.41	0.45704	D	0.998616	D;D	0.59767	0.978;0.986	P;P	0.58077	0.832;0.765	T	0.52041	-0.8628	10	0.14656	T	0.56	.	13.5921	0.61966	0.076:0.0:0.924:0.0	.	517;593	E7EU40;Q92959	.;SO2A1_HUMAN	V	593;517	ENSP00000311291:A593V;ENSP00000418893:A517V	ENSP00000311291:A593V	A	-	2	0	SLCO2A1	135137344	1.000000	0.71417	1.000000	0.80357	0.098000	0.18820	4.218000	0.58554	2.802000	0.96397	0.561000	0.74099	GCC	SLCO2A1-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000357134.1		-	ENST00000493729.1	Missense_Mutation	SNP	3 : 133654654 - 133654654 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	180	30
FAT3	120114	broad.mit.edu	37	11	92258078	92258078	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92258078A>G	ENST00000525166.1	+	2	3143	c.3121A>G	c.(3121-3123)Aat>Gat	p.N1041D	FAT3_ENST00000409404.2_Missense_Mutation_p.N1191D|FAT3_ENST00000541502.1_Missense_Mutation_p.N1191D|FAT3_ENST00000298047.6_Missense_Mutation_p.N1191D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1191	Cadherin 9.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TACAAGTGGAAATCCTCAGAA	0.383		NA								TCGA Ovarian(4;0.039)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	43	43			NA	NA	11		NA											NA				92258078		1843	4098	5941	SO:0001583	missense			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323	120114	120114		Cadherins / Cadherin-related	23112	protein-coding gene	gene with protein product	cadherin-related family member 10	612483	FAT tumor suppressor homolog 3 (Drosophila)		NA	11811999	Standard	NM_001008781	NM_001008781	NA	Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000525166.1:c.3121A>G	11.37:g.92258078A>G	ENSP00000432586:p.Asn1041Asp	NA	B5MDB0|Q96AU6	37		.	.	.	.	.	.	.	.	.	.	A	26.8	4.774069	0.90108	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.53	5.53	0.82687	.	.	.	.	.	T	0.63367	0.2505	L	0.49513	1.565	0.54753	D	0.99998	D	0.76494	0.999	D	0.85130	0.997	T	0.62732	-0.6792	9	0.44086	T	0.13	.	15.6674	0.77242	1.0:0.0:0.0:0.0	.	1191	Q8TDW7-3	.	D	1191;1191;1191;1041	ENSP00000298047:N1191D;ENSP00000387040:N1191D;ENSP00000443786:N1191D;ENSP00000432586:N1041D	ENSP00000298047:N1191D	N	+	1	0	FAT3	91897726	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.262000	0.95591	2.112000	0.64535	0.455000	0.32223	AAT	FAT3-001	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000335363.3		+	ENST00000525166.1	Missense_Mutation	SNP	11 : 92258078 - 92258078 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	233	44
RAB40C	57799	broad.mit.edu	37	16	677435	677435	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:677435G>A	ENST00000248139.3	+	6	862	c.659G>A	c.(658-660)aGc>aAc	p.S220N	RAB40C_ENST00000538492.1_Missense_Mutation_p.S220N|RAB40C_ENST00000535977.1_Missense_Mutation_p.S220N|RAB40C_ENST00000539661.1_Missense_Mutation_p.S220N	NM_021168.4	NP_066991.3	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	220	SOCS box.				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				ACCATCAAGAGCCACCTCAAG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(123;1631 1690 28262 44104 44957)							NA				0													176	146	157			NA	NA	16		NA											NA				677435		2201	4300	6501	SO:0001583	missense			Z84779	CCDS10413.1	16p13.3	2008-07-28	2003-10-14		ENSG00000197562	ENSG00000197562	57799	57799		RAB, member RAS oncogene	18285	protein-coding gene	gene with protein product			RAS-like, family 8, member C	RASL8C	NA	11697911, 18485483	Standard	NM_021168	NM_021168	NA	Approved	RARL	uc021szv.1	Q96S21	OTTHUMG00000047854	ENST00000248139.3:c.659G>A	16.37:g.677435G>A	ENSP00000248139:p.Ser220Asn	NA	A2IDE2|D3DU54|O60795|Q4TT41	37	CCDS10413.1	.	.	.	.	.	.	.	.	.	.	G	32	5.145907	0.94603	.	.	ENSG00000197562	ENST00000535977;ENST00000539661;ENST00000538492;ENST00000248139	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.17	4.21	0.49690	SOCS protein, C-terminal (4);	0.264812	0.41823	N	0.000801	T	0.57621	0.2066	M	0.62723	1.935	0.58432	D	0.999996	D;D	0.57571	0.98;0.98	P;P	0.62740	0.906;0.906	T	0.61227	-0.7105	10	0.87932	D	0	.	12.3215	0.54987	0.0817:0.0:0.9183:0.0	.	220;201	Q96S21;Q5PXE8	RB40C_HUMAN;.	N	220	ENSP00000438492:S220N;ENSP00000445050:S220N;ENSP00000438382:S220N;ENSP00000248139:S220N	ENSP00000248139:S220N	S	+	2	0	RAB40C	617436	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.365000	0.79537	1.169000	0.42739	0.561000	0.74099	AGC	RAB40C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109079.4		+	ENST00000248139.3	Missense_Mutation	SNP	16 : 677435 - 677435 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	878	138
POT1	25913	broad.mit.edu	37	7	124465393	124465393	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:124465393G>A	ENST00000357628.3	-	18	2303	c.1705C>T	c.(1705-1707)Cca>Tca	p.P569S	POT1_ENST00000393329.1_Missense_Mutation_p.P438S	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	569					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TCTGATGCTGGAATCTGGAAG	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)							NA				0													56	56	56			NA	NA	7		NA											NA				124465393		2203	4300	6503	SO:0001583	missense			AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513	25913	25913			17284	protein-coding gene	gene with protein product		606478	protection of telomeres 1 homolog (S. pombe)		NA	11349150, 12391173	Standard		NR_003102	NA	Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.1705C>T	7.37:g.124465393G>A	ENSP00000350249:p.Pro569Ser	NA	O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	37	CCDS5793.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.70|12.70	2.015367|2.015367	0.35511|0.35511	.|.	.|.	ENSG00000128513|ENSG00000128513	ENST00000357628;ENST00000393329|ENST00000436534	T;T|.	0.46063|.	0.97;0.88|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.207319|.	0.44902|.	D|.	0.000417|.	T|T	0.60130|0.60130	0.2245|0.2245	L|L	0.52573|0.52573	1.65|1.65	0.39108|0.39108	D|D	0.961418|0.961418	D|.	0.53312|.	0.959|.	P|.	0.46076|.	0.503|.	T|T	0.60556|0.60556	-0.7240|-0.7240	10|5	0.21540|.	T|.	0.41|.	-19.2466|-19.2466	10.2755|10.2755	0.43507|0.43507	0.0894:0.0:0.9106:0.0|0.0894:0.0:0.9106:0.0	.|.	569|.	Q9NUX5|.	POTE1_HUMAN|.	S|F	569;438|67	ENSP00000350249:P569S;ENSP00000377002:P438S|.	ENSP00000350249:P569S|.	P|S	-|-	1|2	0|0	POT1|POT1	124252629|124252629	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.625000|0.625000	0.37756|0.37756	4.430000|4.430000	0.59907|0.59907	2.569000|2.569000	0.86673|0.86673	0.650000|0.650000	0.86243|0.86243	CCA|TCC	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347861.1		-	ENST00000357628.3	Missense_Mutation	SNP	7 : 124465393 - 124465393 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	161	25
MID1	4281	broad.mit.edu	37	X	10417463	10417463	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:10417463A>C	ENST00000317552.4	-	10	2349	c.1949T>G	c.(1948-1950)aTt>aGt	p.I650S	MID1_ENST00000453318.2_Missense_Mutation_p.I650S|MID1_ENST00000380779.1_Missense_Mutation_p.I650S|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000380785.1_Missense_Mutation_p.I650S|MID1_ENST00000380787.1_Missense_Mutation_p.I650S|MID1_ENST00000380780.1_Missense_Mutation_p.I650S	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	650	B30.2/SPRY.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCCAGTGATAATCGTCAGACA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	70	76			NA	NA	X		NA											NA				10417463		2203	4300	6503	SO:0001583	missense			Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871	NA	4281		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers, Fibronectin type III domain containing	7095	protein-coding gene	gene with protein product	Opitz/BBB syndrome	300552			NA	9354791, 9425238	Standard		NM_001098624	NA	Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.1949T>G	X.37:g.10417463A>C	ENSP00000312678:p.Ile650Ser	NA	B2RCG2|O75361|Q9BZX5	37	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.857486	0.91433	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000454373	T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	T	0.81399	0.4814	M	0.80332	2.49	0.58432	D	0.999999	D;D;D	0.57899	0.981;0.981;0.961	P;P;D	0.64410	0.891;0.868;0.925	D	0.84339	0.0526	10	0.87932	D	0	.	14.7167	0.69275	1.0:0.0:0.0:0.0	.	650;650;600	A8K5A0;O15344;B4DLX8	.;TRI18_HUMAN;.	S	650;650;650;650;650;650;600	ENSP00000414521:I650S;ENSP00000312678:I650S;ENSP00000370162:I650S;ENSP00000370156:I650S;ENSP00000370164:I650S;ENSP00000370157:I650S	ENSP00000312678:I650S	I	-	2	0	MID1	10377463	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	8.772000	0.91757	1.857000	0.53885	0.345000	0.21793	ATT	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055738.1		-	ENST00000317552.4	Missense_Mutation	SNP	X : 10417463 - 10417463 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	71
LAMA2	3908	broad.mit.edu	37	6	129511410	129511410	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129511410G>A	ENST00000421865.2	+	11	1577	c.1528G>A	c.(1528-1530)Gat>Aat	p.D510N		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	510	Laminin EGF-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTTGCAAGAGGATAATTGGAA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	129	129			NA	NA	6		NA											NA				129511410		2203	4300	6503	SO:0001583	missense			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569	3908	3908		Laminins	6482	protein-coding gene	gene with protein product	merosin, congenital muscular dystrophy	156225		LAMM	NA	2185464, 8294519	Standard		NM_000426	NA	Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.1528G>A	6.37:g.129511410G>A	ENSP00000400365:p.Asp510Asn	NA	Q14736|Q5VUM2|Q93022	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	9.182	1.023845	0.19433	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.61859	0.07	5.79	2.64	0.31445	EGF-like, laminin (4);	0.619591	0.16364	N	0.217639	T	0.13756	0.0333	N	0.04805	-0.155	0.27801	N	0.942499	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.003	T	0.28267	-1.0049	10	0.13108	T	0.6	.	11.4699	0.50261	0.2851:0.0:0.7149:0.0	.	510;510	A6NF00;P24043	.;LAMA2_HUMAN	N	510	ENSP00000400365:D510N	ENSP00000346769:D510N	D	+	1	0	LAMA2	129553103	1.000000	0.71417	0.906000	0.35671	0.980000	0.70556	1.345000	0.33953	0.805000	0.34159	-0.136000	0.14681	GAT	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042180.1		+	ENST00000421865.2	Missense_Mutation	SNP	6 : 129511410 - 129511410 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	321	53
MUC16	94025	broad.mit.edu	37	19	8974076	8974076	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8974076G>A	ENST00000397910.4	-	76	42798	c.42595C>T	c.(42595-42597)Cgg>Tgg	p.R14199W	MUC16_ENST00000380951.5_Missense_Mutation_p.R840W|MUC16_ENST00000596956.1_5'UTR	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14230	SEA 14.			Missing (in Ref. 3; AAK74120).	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						TACTCGCCCCGGATTGATAAA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	88	90			NA	NA	19		NA											NA				8974076		1884	4115	5999	SO:0001583	missense			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.42595C>T	19.37:g.8974076G>A	ENSP00000381008:p.Arg14199Trp	NA	Q6ZQW5|Q96RK2	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	11.88	1.771491	0.31320	.	.	ENSG00000181143	ENST00000397910;ENST00000380951	T	0.01981	4.52	4.64	-3.0	0.05480	.	2.408930	0.02423	N	0.082720	T	0.04861	0.0131	M	0.78637	2.42	.	.	.	B;P	0.41643	0.002;0.758	B;B	0.38954	0.002;0.286	T	0.47522	-0.9111	9	0.51188	T	0.08	.	8.8916	0.35437	0.5282:0.0:0.4718:0.0	.	21844;14199	Q8WXI7;B5ME49	MUC16_HUMAN;.	W	14199;840	ENSP00000381008:R14199W	ENSP00000370338:R840W	R	-	1	2	MUC16	8835076	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.189000	0.17037	-0.452000	0.07087	-0.766000	0.03442	CGG	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Missense_Mutation	SNP	19 : 8974076 - 8974076 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	88	10
MBLAC2	153364	broad.mit.edu	37	5	89770000	89770000	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:89770000C>T	ENST00000316610.6	-	1	585	c.110G>A	c.(109-111)gGc>gAc	p.G37D	MBLAC2_ENST00000514906.1_Missense_Mutation_p.G37D	NM_203406.1	NP_981951	Q68D91	MBLC2_HUMAN	metallo-beta-lactamase domain containing 2	37							hydrolase activity|metal ion binding			kidney(1)|liver(1)|lung(3)	5						CTGCTCGGAGCCGCGCACCAG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	25	26			NA	NA	5		NA											NA				89770000		2202	4300	6502	SO:0001583	missense			BC038230	CCDS4067.1	5q14.3	2009-04-08	2009-04-08		ENSG00000176055	ENSG00000176055	153364	153364			33711	protein-coding gene	gene with protein product					NA		Standard	NM_203406	NM_203406	NA	Approved	DKFZp686P15118, MGC46734	uc003kjp.3	Q68D91	OTTHUMG00000131327	ENST00000316610.6:c.110G>A	5.37:g.89770000C>T	ENSP00000314776:p.Gly37Asp	NA	D6RJI1|Q8IY16|Q8N8D8	37	CCDS4067.1	.	.	.	.	.	.	.	.	.	.	C	36	5.653877	0.96724	.	.	ENSG00000176055;ENSG00000176055;ENSG00000259131	ENST00000316610;ENST00000514906;ENST00000556122	T;T	0.80214	-1.35;-1.35	5.37	5.37	0.77165	Beta-lactamase-like (2);	0.000000	0.85682	D	0.000000	D	0.86510	0.5950	L	0.54908	1.71	0.80722	D	1	P	0.45474	0.859	P	0.61397	0.888	T	0.82841	-0.0258	10	0.23302	T	0.38	-1.1889	18.7291	0.91728	0.0:1.0:0.0:0.0	.	37	Q68D91	MBLC2_HUMAN	D	37	ENSP00000314776:G37D;ENSP00000425600:G37D	ENSP00000314776:G37D	G	-	2	0	AC093510.2;MBLAC2	89805756	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.504000	0.66968	2.496000	0.84212	0.655000	0.94253	GGC	MBLAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254098.2		-	ENST00000316610.6	Missense_Mutation	SNP	5 : 89770000 - 89770000 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	67	10
NOS3	4846	broad.mit.edu	37	7	150696386	150696386	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150696386C>T	ENST00000484524.1	+	8	1065	c.1065C>T	c.(1063-1065)ggC>ggT	p.G355G	NOS3_ENST00000467517.1_Silent_p.G355G|NOS3_ENST00000297494.3_Silent_p.G355G|NOS3_ENST00000461406.1_Silent_p.G149G	NM_001160111.1	NP_001153583.1	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	355	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CCTTCAGTGGCTGGTACATGA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	95	93			NA	NA	7		NA											NA				150696386		2201	4293	6494	SO:0001819	synonymous_variant				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	4846	4846	1.14.13.39		7876	protein-coding gene	gene with protein product	endothelial nitric oxide synthase	163729			NA	1379542	Standard	NM_000603	NM_000603	NA	Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1065C>T	7.37:g.150696386C>T		NA	A8KA63|B2RCQ1|Q13662|Q14251|Q14434|Q548C1|Q6GSL5|Q9UDC6	37	CCDS55182.1																																																																																			NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351550.1		+	ENST00000484524.1	Silent	SNP	7 : 150696386 - 150696386 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	946	123
PTPRZ1	5803	broad.mit.edu	37	7	121652806	121652806	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121652806C>T	ENST00000449182.1	+	12	2402				PTPRZ1_ENST00000393386.2_Silent_p.L1236L|PTPRZ1_ENST00000483028.1_Intron	NM_001206839.1	NP_001193768.1	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	NA					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGAAAACATGCTGCACTCTAC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	159	159			NA	NA	7		NA											NA				121652806		2203	4300	6503	SO:0001627	intron_variant			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278	5803	5803		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ	NA	7736789, 8387522	Standard	NM_002851	NM_001206838	NA	Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000449182.1:c.2263+1443C>T	7.37:g.121652806C>T		NA	A4D0W5|O76043|Q9UDR6	37	CCDS56505.1																																																																																			PTPRZ1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347289.1		+	ENST00000449182.1	Intron	SNP	7 : 121652806 - 121652806 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	792	175
RNF169	254225	broad.mit.edu	37	11	74545772	74545772	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74545772G>T	ENST00000299563.4	+	5	907	c.894G>T	c.(892-894)caG>caT	p.Q298H		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	298							zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						ACACAGCCCAGGAAAGAGCGA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	96	94			NA	NA	11		NA											NA				74545772		2031	4204	6235	SO:0001583	missense			AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439	254225	254225		RING-type (C3HC4) zinc fingers	26961	protein-coding gene	gene with protein product					NA	12056414	Standard	XM_495886	NM_001098638	NA	Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516	ENST00000299563.4:c.894G>T	11.37:g.74545772G>T	ENSP00000299563:p.Gln298His	NA	Q6N015	37	CCDS41691.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.636237	0.67130	.	.	ENSG00000166439	ENST00000299563	T	0.50001	0.76	5.86	-0.421	0.12332	.	0.363893	0.35040	N	0.003491	T	0.58736	0.2143	M	0.73962	2.25	0.80722	D	1	D	0.71674	0.998	D	0.69142	0.962	T	0.56498	-0.7969	10	0.66056	D	0.02	-2.5919	5.2435	0.15485	0.454:0.0:0.4111:0.1349	.	298	Q8NCN4	RN169_HUMAN	H	298	ENSP00000299563:Q298H	ENSP00000299563:Q298H	Q	+	3	2	RNF169	74223420	0.994000	0.37717	0.989000	0.46669	0.965000	0.64279	0.144000	0.16135	-0.030000	0.13804	-0.145000	0.13849	CAG	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384741.1		+	ENST00000299563.4	Missense_Mutation	SNP	11 : 74545772 - 74545772 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	227	16
ETS2	2114	broad.mit.edu	37	21	40184962	40184962	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40184962G>A	ENST00000360214.3	+	4	568	c.108G>A	c.(106-108)ctG>ctA	p.L36L	ETS2_ENST00000360938.3_Silent_p.L36L	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	36					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				ATGGGTCCCTGTTTGCTGTTT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	133	134			NA	NA	21		NA											NA				40184962		2203	4300	6503	SO:0001819	synonymous_variant				CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557	2114	2114			3489	protein-coding gene	gene with protein product		164740	v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)		NA	17986575	Standard		NM_001256295	NA	Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.108G>A	21.37:g.40184962G>A		NA	A6NM68|D3DSH6|Q53Y89	37	CCDS13659.1																																																																																			ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207544.1		+	ENST00000360214.3	Silent	SNP	21 : 40184962 - 40184962 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	576	123
RP11-144F15.1	0	broad.mit.edu	37	12	106903307	106903307	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:106903307C>T	ENST00000551505.1	-	2	229				POLR3B_ENST00000228347.4_Silent_p.L1128L|POLR3B_ENST00000539066.1_Silent_p.L1070L						NA											NA						CAGGTTAAAACTGTCCAAGTA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	94	99			NA	NA	12		NA											NA				106903307		2203	4300	6503	SO:0001627	intron_variant											NA	NA			NA							NA					NA						ENST00000551505.1:c.210-9347G>A	12.37:g.106903307C>T		NA		37																																																																																				RP11-144F15.1-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000407171.1		-	ENST00000551505.1	Intron	SNP	12 : 106903307 - 106903307 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	284	76
FLVCR1	28982	broad.mit.edu	37	1	213032418	213032418	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:213032418C>T	ENST00000366971.4	+	1	822	c.624C>T	c.(622-624)tgC>tgT	p.C208C		NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	208					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		TGGGCCAGTGCTTGTGCTCGG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(199;2235 2952 19233 26256)							NA				0													66	55	58			NA	NA	1		NA											NA				213032418		2203	4300	6503	SO:0001819	synonymous_variant			AF118637	CCDS1510.1	1q32.3	2014-05-30			ENSG00000162769	ENSG00000162769	28982	28982		Solute carriers	24682	protein-coding gene	gene with protein product		609144	ataxia, posterior column 1, with retinitis pigmentosa	AXPC1	NA	10400745, 10648427, 21070897	Standard	NM_014053	NM_014053	NA	Approved	FLVCR, MFSD7B, PCA	uc001hjt.3	Q9Y5Y0	OTTHUMG00000036924	ENST00000366971.4:c.624C>T	1.37:g.213032418C>T		NA	Q1HE16|Q86XY9|Q9NVR9	37	CCDS1510.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.632584	0.29068	.	.	ENSG00000162769	ENST00000419102	.	.	.	5.5	2.5	0.30297	.	.	.	.	.	T	0.55210	0.1906	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48068	-0.9067	4	.	.	.	-19.1226	7.0555	0.25097	0.0:0.5941:0.2596:0.1463	.	.	.	.	V	54	.	.	A	+	2	0	FLVCR1	211099041	0.000000	0.05858	0.974000	0.42286	0.989000	0.77384	-0.401000	0.07232	0.685000	0.31468	0.655000	0.94253	GCT	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089678.2		+	ENST00000366971.4	Silent	SNP	1 : 213032418 - 213032418 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	330	71
BBS2	583	broad.mit.edu	37	16	56519606	56519606	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56519606C>T	ENST00000245157.5	-	16	2375	c.1955G>A	c.(1954-1956)aGa>aAa	p.R652K	BBS2_ENST00000568104.1_Missense_Mutation_p.R606K	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	652					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TAGCAAGTCTCTATTAAGGTC	0.368		NA							Bardet-Biedl syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	134	137			NA	NA	16		NA											NA				56519606		2198	4300	6498	SO:0001583	missense	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124	583	583			967	protein-coding gene	gene with protein product		606151		BBS	NA	11285252	Standard	NM_031885	NM_031885	NA	Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.1955G>A	16.37:g.56519606C>T	ENSP00000245157:p.Arg652Lys	NA	Q96CM0|Q96SN9	37	CCDS32451.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.647083	0.29246	.	.	ENSG00000125124	ENST00000245157	D	0.90444	-2.67	5.64	3.41	0.39046	.	0.131453	0.64402	N	0.000003	D	0.82563	0.5064	L	0.33245	0.995	0.34455	D	0.701105	B	0.09022	0.002	B	0.13407	0.009	T	0.75164	-0.3414	10	0.22109	T	0.4	-9.6526	7.1628	0.25672	0.0:0.4023:0.0:0.5977	.	652	Q9BXC9	BBS2_HUMAN	K	652	ENSP00000245157:R652K	ENSP00000245157:R652K	R	-	2	0	BBS2	55077107	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.301000	0.43628	0.433000	0.26313	-0.482000	0.04802	AGA	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434386.2		-	ENST00000245157.5	Missense_Mutation	SNP	16 : 56519606 - 56519606 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	556	118
PDE4DIP	9659	broad.mit.edu	37	1	144855838	144855838	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144855838C>G	ENST00000530740.1	-	43	7008	c.6970G>C	c.(6970-6972)Gcc>Ccc	p.A2324P	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A2239P|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.A2239P|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A2133P|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.A2375P			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2239					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGGTGCAGGGCACTGGTGCTG	0.582		NA	T	PDGFRB	MPD									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													55	51	52			NA	NA	1		NA											NA				144855838		2203	4296	6499	SO:0001583	missense			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104	9659	9659			15580	protein-coding gene	gene with protein product	myomegalin	608117	cardiomyopathy associated 2	CMYA2	NA	9455484, 11134006	Standard	NM_022359	NM_022359	NA	Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000530740.1:c.6970G>C	1.37:g.144855838C>G	ENSP00000435654:p.Ala2324Pro	NA	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	37		.	.	.	.	.	.	.	.	.	.	.	27.6	4.843624	0.91197	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01787	4.64;4.75;4.74;4.74;4.75	4.42	3.22	0.36961	.	.	.	.	.	T	0.01940	0.0061	M	0.67953	2.075	0.32038	N	0.598654	P;D	0.55800	0.95;0.973	P;P	0.52424	0.698;0.674	T	0.43015	-0.9417	9	0.62326	D	0.03	.	4.5549	0.12131	0.0:0.7086:0.0:0.2914	.	2133;2239	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	P	2133;2239;2239;2324;2375	ENSP00000327209:A2133P;ENSP00000358360:A2239P;ENSP00000358363:A2239P;ENSP00000435654:A2324P;ENSP00000358366:A2375P	ENSP00000327209:A2133P	A	-	1	0	PDE4DIP	143567195	0.994000	0.37717	0.894000	0.35097	0.641000	0.38312	2.755000	0.47540	2.191000	0.70037	0.549000	0.68633	GCC	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000384663.2		-	ENST00000530740.1	Missense_Mutation	SNP	1 : 144855838 - 144855838 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	372	56
NUP98	4928	broad.mit.edu	37	11	3800140	3800140	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3800140G>A	ENST00000324932.7	-	4	738	c.318C>T	c.(316-318)aaC>aaT	p.N106N	NUP98_ENST00000397007.4_Silent_p.N106N|NUP98_ENST00000355260.3_Silent_p.N106N|NUP98_ENST00000397004.4_Silent_p.N106N|NUP98_ENST00000359171.4_Silent_p.N106N	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	106	Gly/Thr-rich.				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CAAAGGCATTGTTTTGGGATG	0.443		NA	T	HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11	AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0													165	157	160			NA	NA	11		NA											NA				3800140		2201	4298	6499	SO:0001819	synonymous_variant			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713	4928	4928			8068	protein-coding gene	gene with protein product		601021	nucleoporin 98kD		NA	9166830	Standard	NM_016320	NM_139131	NA	Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.318C>T	11.37:g.3800140G>A		NA	Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	37	CCDS7746.1																																																																																			NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032766.3		-	ENST00000324932.7	Silent	SNP	11 : 3800140 - 3800140 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	507	66
GCC2	9648	broad.mit.edu	37	2	109088536	109088536	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109088536A>G	ENST00000309863.6	+	6	3465	c.2751A>G	c.(2749-2751)gaA>gaG	p.E917E		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	917					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AACAAAAAGAATTACGAGATA	0.284		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	44	43			NA	NA	2		NA											NA				109088536		2157	4260	6417	SO:0001819	synonymous_variant			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968	9648	9648			23218	protein-coding gene	gene with protein product		612711	GRIP and coiled-coil domain-containing 2		NA	12446665	Standard	NM_014635	NM_181453	NA	Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.2751A>G	2.37:g.109088536A>G		NA	A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	37	CCDS33268.1																																																																																			GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358516.3		+	ENST00000309863.6	Silent	SNP	2 : 109088536 - 109088536 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	86
ZMAT3	64393	broad.mit.edu	37	3	178785445	178785445	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:178785445C>A	ENST00000311417.2	-	2	837	c.96G>T	c.(94-96)caG>caT	p.Q32H	ZMAT3_ENST00000432729.1_Missense_Mutation_p.Q32H	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	zinc finger, matrin-type 3	32					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			GTGGTGGAAGCTGCAAGGTTC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	129	130			NA	NA	3		NA											NA				178785445		2203	4300	6503	SO:0001583	missense			AK122768	CCDS3224.1, CCDS46962.1	3q26.32	2012-10-05	2010-09-15		ENSG00000172667	ENSG00000172667	64393	64393		Zinc fingers, matrin-type	29983	protein-coding gene	gene with protein product		606452			NA	9400996, 11689294	Standard	NM_152240	NM_022470	NA	Approved	WIG1, MGC10613, FLJ12296, WIG-1, PAG608	uc003fjg.3	Q9HA38	OTTHUMG00000157290	ENST00000311417.2:c.96G>T	3.37:g.178785445C>A	ENSP00000311221:p.Gln32His	NA	B3KVA6|D3DNR1|Q96A21	37	CCDS3224.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.623280	0.46840	.	.	ENSG00000172667	ENST00000311417;ENST00000432729;ENST00000414084	T;T;T	0.48201	0.93;0.92;0.82	5.86	4.99	0.66335	.	0.693387	0.14830	N	0.295886	T	0.30885	0.0779	N	0.14661	0.345	0.37288	D	0.908141	P;P	0.42649	0.786;0.681	B;B	0.40066	0.318;0.169	T	0.16630	-1.0396	10	0.32370	T	0.25	-19.4788	9.7286	0.40348	0.0:0.8038:0.0:0.1962	.	32;32	Q9HA38-2;Q9HA38	.;ZMAT3_HUMAN	H	32	ENSP00000311221:Q32H;ENSP00000396506:Q32H;ENSP00000398920:Q32H	ENSP00000311221:Q32H	Q	-	3	2	ZMAT3	180268139	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.452000	0.35156	1.481000	0.48307	0.563000	0.77884	CAG	ZMAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348336.2		-	ENST00000311417.2	Missense_Mutation	SNP	3 : 178785445 - 178785445 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	722	140
CIZ1	25792	broad.mit.edu	37	9	130947959	130947959	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130947959G>T	ENST00000393608.1	-	5	657	c.455C>A	c.(454-456)cCc>cAc	p.P152H	CIZ1_ENST00000372948.3_Missense_Mutation_p.P152H|CIZ1_ENST00000541172.1_Missense_Mutation_p.P51H|CIZ1_ENST00000277465.4_Missense_Mutation_p.P152H|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000357558.5_Missense_Mutation_p.P152H|CIZ1_ENST00000325721.8_Missense_Mutation_p.P128H|CIZ1_ENST00000372938.5_Missense_Mutation_p.P152H|CIZ1_ENST00000538431.1_Missense_Mutation_p.P152H|CIZ1_ENST00000372954.1_Missense_Mutation_p.P128H	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	152						nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						AGTGGCCTGGGGAAAGAACTG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	58	58			NA	NA	9		NA											NA				130947959		2203	4300	6503	SO:0001583	missense			AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337	25792	25792			16744	protein-coding gene	gene with protein product		611420			NA	10529385	Standard	NM_012127	NM_001131015	NA	Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.455C>A	9.37:g.130947959G>T	ENSP00000377232:p.Pro152His	NA	A8K9J8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	37	CCDS6894.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446937	0.84101	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372941;ENST00000372948;ENST00000372938;ENST00000415526;ENST00000324544;ENST00000420484	D;D;D;D;D;D;D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.33	5.33	0.75918	.	0.000000	0.52532	D	0.000074	D	0.88119	0.6351	L	0.29908	0.895	0.38617	D	0.951046	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.997;0.998;1.0;0.999	D;P;D;D;D;P;D;P	0.91635	0.998;0.885;0.999;0.946;0.926;0.875;0.999;0.885	D	0.89937	0.4070	10	0.87932	D	0	-25.5097	15.8799	0.79195	0.0:0.0:1.0:0.0	.	152;152;152;152;128;152;128;152	B7Z3U7;B4E0A3;F5H2X7;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;.;CIZ1_HUMAN;.;.	H	128;152;152;152;128;119;51;152;128;152;152;79;152;152	ENSP00000362045:P128H;ENSP00000377232:P152H;ENSP00000439244:P152H;ENSP00000350169:P152H;ENSP00000320374:P128H;ENSP00000445057:P51H;ENSP00000277465:P152H;ENSP00000362039:P152H;ENSP00000362029:P152H;ENSP00000398011:P79H;ENSP00000321780:P152H;ENSP00000407265:P152H	ENSP00000277465:P152H	P	-	2	0	CIZ1	129987780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.234000	0.65343	2.775000	0.95449	0.655000	0.94253	CCC	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054399.1		-	ENST00000393608.1	Missense_Mutation	SNP	9 : 130947959 - 130947959 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	301	49
RNF103	7844	broad.mit.edu	37	2	86831267	86831267	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86831267C>A	ENST00000237455.4	-	4	2725	c.1757G>T	c.(1756-1758)aGc>aTc	p.S586I	RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000597638.1_RNA|CHMP3_ENST00000439940.2_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	586					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						TTCACATGGGCTGGTCTGACA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													191	182	185			NA	NA	2		NA											NA				86831267		2203	4300	6503	SO:0001583	missense			D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305	7844	7844		RING-type (C3HC4) zinc fingers	12859	protein-coding gene	gene with protein product		602507	zinc finger protein 103 homolog (mouse)	ZFP103	NA	9070305	Standard	NM_005667	NM_005667	NA	Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.1757G>T	2.37:g.86831267C>A	ENSP00000237455:p.Ser586Ile	NA	A6NFV6|Q53SU6|Q8IVB9	37	CCDS33237.1	.	.	.	.	.	.	.	.	.	.	C	7.136	0.580949	0.13686	.	.	ENSG00000239305	ENST00000237455	T	0.45668	0.89	5.51	4.63	0.57726	.	0.566379	0.20534	N	0.090448	T	0.29028	0.0721	N	0.22421	0.69	0.35951	D	0.833929	B	0.19583	0.037	B	0.17433	0.018	T	0.25882	-1.0119	10	0.49607	T	0.09	-1.1683	9.7379	0.40399	0.0:0.8259:0.0:0.1741	.	586	O00237	RN103_HUMAN	I	586	ENSP00000237455:S586I	ENSP00000237455:S586I	S	-	2	0	RNF103	86684778	0.861000	0.29849	0.998000	0.56505	0.363000	0.29612	1.594000	0.36697	1.329000	0.45376	0.460000	0.39030	AGC	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330041.2		-	ENST00000237455.4	Missense_Mutation	SNP	2 : 86831267 - 86831267 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1192	296
C3orf33	285315	broad.mit.edu	37	3	155481469	155481469	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:155481469C>A	ENST00000340171.2	-	5	820	c.722G>T	c.(721-723)aGt>aTt	p.S241I	C3orf33_ENST00000534941.1_Missense_Mutation_p.S198I			Q96NB5	Q96NB5_HUMAN	chromosome 3 open reading frame 33	198							hydrolase activity, acting on ester bonds|nucleic acid binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)	8			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTTTAAAAAACTGTCCTTTTT	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	63	65			NA	NA	3		NA											NA				155481469		1780	4057	5837	SO:0001583	missense			AF115515	CCDS54659.1	3q25.31	2012-10-31			ENSG00000174928	ENSG00000174928	285315	285315			26434	protein-coding gene	gene with protein product					NA	20680465	Standard	NM_173657	NM_173657	NA	Approved	FLJ31139, AC3-33	uc003fal.1	Q6P1S2	OTTHUMG00000158496	ENST00000340171.2:c.722G>T	3.37:g.155481469C>A	ENSP00000342512:p.Ser241Ile	NA		37		.	.	.	.	.	.	.	.	.	.	C	11.96	1.795647	0.31777	.	.	ENSG00000174928	ENST00000534941;ENST00000340171;ENST00000537385	T;T	0.46063	0.88;0.88	5.13	0.327	0.15913	.	0.942736	0.08977	N	0.866334	T	0.50446	0.1616	L	0.57536	1.79	0.09310	N	0.999999	D	0.53151	0.958	P	0.54312	0.748	T	0.43861	-0.9365	10	0.72032	D	0.01	-5.5109	8.8689	0.35303	0.0:0.5147:0.0:0.4853	.	241	Q6P1S2	CC033_HUMAN	I	198;241;241	ENSP00000445446:S198I;ENSP00000342512:S241I	ENSP00000342512:S241I	S	-	2	0	C3orf33	156964163	0.000000	0.05858	0.308000	0.25141	0.521000	0.34408	-1.494000	0.02296	-0.005000	0.14395	0.650000	0.86243	AGT	C3orf33-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000351167.1		-	ENST00000340171.2	Missense_Mutation	SNP	3 : 155481469 - 155481469 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	204	24
PAN2	9924	broad.mit.edu	37	12	56712063	56712063	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56712063C>A	ENST00000425394.2	-	25	3908	c.3532G>T	c.(3532-3534)Gac>Tac	p.D1178Y	PAN2_ENST00000549090.1_5'UTR|PAN2_ENST00000440411.3_Missense_Mutation_p.D1174Y|PAN2_ENST00000257931.5_Missense_Mutation_p.D1177Y|PAN2_ENST00000548043.1_Missense_Mutation_p.D1178Y	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit	1178					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ACCTTCCAGTCCATCTTTCTG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	158	162			NA	NA	12		NA											NA				56712063		2203	4300	6503	SO:0001583	missense			AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473	9924	9924		Ubiquitin-specific peptidases	20074	protein-coding gene	gene with protein product	PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)		ubiquitin specific protease 52, ubiquitin specific peptidase 52, PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	USP52	NA	12838346, 14583602	Standard	NM_014871	NM_014871	NA	Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.3532G>T	12.37:g.56712063C>A	ENSP00000401721:p.Asp1178Tyr	NA	O75189|Q76E12|Q8IVE1	37	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477596	0.84640	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	5.44	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.44850	0.1313	M	0.62723	1.935	0.54753	D	0.999984	D;D;D	0.64830	0.994;0.994;0.99	P;P;P	0.60789	0.879;0.879;0.76	T	0.44605	-0.9317	10	0.59425	D	0.04	-11.281	14.8958	0.70644	0.1447:0.8553:0.0:0.0	.	1177;1174;1178	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	Y	1178;1174;1177;1178	ENSP00000401721:D1178Y;ENSP00000388231:D1174Y;ENSP00000257931:D1177Y;ENSP00000449861:D1178Y	ENSP00000257931:D1177Y	D	-	1	0	PAN2	54998330	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.581000	0.82535	1.421000	0.47157	0.563000	0.77884	GAC	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409024.1		-	ENST00000425394.2	Missense_Mutation	SNP	12 : 56712063 - 56712063 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	800	122
HSD17B12	51144	broad.mit.edu	37	11	43837021	43837021	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43837021A>G	ENST00000278353.4	+	5	545	c.426A>G	c.(424-426)gaA>gaG	p.E142E	HSD17B12_ENST00000529261.1_3'UTR	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	142					long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity			endometrium(2)|large_intestine(4)|lung(4)	10						AGTATCCTGAATACTTTTTGG	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(58;548 1143 13948 16572 34258)							NA				0													159	147	151			NA	NA	11		NA											NA				43837021		2203	4300	6503	SO:0001819	synonymous_variant			AF078850	CCDS7905.1	11q11	2011-09-20				ENSG00000149084	51144	51144	1.1.1.62	Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3	18646	protein-coding gene	gene with protein product	3-ketoacyl-CoA reductase, short chain dehydrogenase/reductase family 12C, member 1	609574			NA	12482854, 19027726	Standard		NM_016142	NA	Approved	KAR, SDR12C1	uc001mxq.4	Q53GQ0		ENST00000278353.4:c.426A>G	11.37:g.43837021A>G		NA	A8K9B0|D3DR23|Q96JU2|Q9Y6G8	37	CCDS7905.1																																																																																			HSD17B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389594.1		+	ENST00000278353.4	Silent	SNP	11 : 43837021 - 43837021 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	483	88
RGL4	266747	broad.mit.edu	37	22	24034358	24034358	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24034358C>T	ENST00000401461.1	+	3	884				RGL4_ENST00000290691.5_Silent_p.G47G|AP000347.2_ENST00000417194.1_RNA|KB-1572G7.2_ENST00000421064.1_RNA|GUSBP11_ENST00000455485.1_RNA			Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	NA					small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						TGCTGTATGGCCAGGTCTGCC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	93	96			NA	NA	22		NA											NA				24034358		2203	4300	6503	SO:0001627	intron_variant				CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496	266747	266747			31911	protein-coding gene	gene with protein product	RalGDS related oncogene	612214			NA	9178890, 10851075	Standard	NM_153615	NM_153615	NA	Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000401461.1:c.-229-164C>T	22.37:g.24034358C>T		NA		37																																																																																				RGL4-003	PUTATIVE	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000319712.2		+	ENST00000401461.1	Intron	SNP	22 : 24034358 - 24034358 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	555	125
QSER1	79832	broad.mit.edu	37	11	32956758	32956758	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32956758C>A	ENST00000399302.2	+	4	3902	c.3567C>A	c.(3565-3567)ccC>ccA	p.P1189P	QSER1_ENST00000527788.1_Silent_p.P950P	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1189										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CATTTTGTCCCCCACCACTTC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	108	107			NA	NA	11		NA											NA				32956758		1911	4108	6019	SO:0001819	synonymous_variant			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749	79832	79832			26154	protein-coding gene	gene with protein product					NA		Standard	NM_024774	XM_006718323	NA	Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.3567C>A	11.37:g.32956758C>A		NA	Q6ZU30|Q6ZUR5	37	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.495042	0.01009	.	.	ENSG00000060749	ENST00000524678	T	0.37752	1.18	5.31	2.36	0.29203	.	0.177489	0.38548	N	0.001651	T	0.32376	0.0827	.	.	.	0.49915	D	0.99983	.	.	.	.	.	.	T	0.08973	-1.0696	7	0.37606	T	0.19	.	2.5447	0.04734	0.3181:0.4219:0.1144:0.1456	.	.	.	.	H	210	ENSP00000432136:P210H	ENSP00000432136:P210H	P	+	2	0	QSER1	32913334	0.087000	0.21565	0.998000	0.56505	0.227000	0.25037	-0.313000	0.08103	0.605000	0.29947	-0.373000	0.07131	CCC	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388448.1		+	ENST00000399302.2	Silent	SNP	11 : 32956758 - 32956758 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	572	109
SLC38A2	54407	broad.mit.edu	37	12	46758265	46758265	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46758265G>T	ENST00000256689.5	-	10	1224	c.780C>A	c.(778-780)acC>acA	p.T260T	SLC38A2_ENST00000551374.1_Silent_p.T98T	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	260					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		GCTGTGTTAAGGTGGTGTTTA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(9;448 492 8335 28722 40361)							NA				0													263	263	263			NA	NA	12		NA											NA				46758265		2203	4300	6503	SO:0001819	synonymous_variant			AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294	54407	54407		Solute carriers	13448	protein-coding gene	gene with protein product		605180			NA	10747860, 17237199	Standard		NM_018976	NA	Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.780C>A	12.37:g.46758265G>T		NA	Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	37	CCDS8749.1																																																																																			SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404226.1		-	ENST00000256689.5	Silent	SNP	12 : 46758265 - 46758265 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1399	114
SIPA1L2	57568	broad.mit.edu	37	1	232650199	232650199	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232650199C>T	ENST00000366630.1	-	2	1245	c.887G>A	c.(886-888)cGa>cAa	p.R296Q	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R296Q			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	296					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTTAACAGTTCGAAGCTTTCG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	69	68			NA	NA	1		NA											NA				232650199		1916	4123	6039	SO:0001583	missense			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991	57568	57568			23800	protein-coding gene	gene with protein product		611609			NA		Standard	XM_045839	NM_020808	NA	Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.887G>A	1.37:g.232650199C>T	ENSP00000355589:p.Arg296Gln	NA	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	37	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961471	0.74016	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.84442	-1.85;-1.85	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.91560	0.7334	M	0.69358	2.11	0.51767	D	0.999933	D	0.76494	0.999	D	0.67900	0.954	D	0.91448	0.5179	10	0.66056	D	0.02	-24.867	19.6787	0.95950	0.0:1.0:0.0:0.0	.	296	Q9P2F8	SI1L2_HUMAN	Q	296	ENSP00000355589:R296Q;ENSP00000262861:R296Q	ENSP00000262861:R296Q	R	-	2	0	SIPA1L2	230716822	0.975000	0.34042	0.930000	0.37139	0.978000	0.69477	5.694000	0.68272	2.890000	0.99128	0.650000	0.86243	CGA	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092318.1		-	ENST00000366630.1	Missense_Mutation	SNP	1 : 232650199 - 232650199 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	433	102
APOL1	8542	broad.mit.edu	37	22	36651007	36651007	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36651007G>T	ENST00000319136.4	+	3	321	c.54G>T	c.(52-54)gaG>gaT	p.E18D	APOL1_ENST00000347595.7_Intron|APOL1_ENST00000397279.4_Missense_Mutation_p.E2D|APOL1_ENST00000426053.1_Missense_Mutation_p.E2D|APOL1_ENST00000440669.2_Missense_Mutation_p.E2D|APOL1_ENST00000422706.1_Missense_Mutation_p.E2D|APOL1_ENST00000397278.3_Missense_Mutation_p.E2D	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	2					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						GCGACATGGAGGGAGCTGCTT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	68	70			NA	NA	22		NA											NA				36651007		2203	4300	6503	SO:0001583	missense			AF019225	CCDS13925.1, CCDS13926.1, CCDS46702.1	22q13.1	2014-09-17			ENSG00000100342	ENSG00000100342	8542	8542		Apolipoproteins	618	protein-coding gene	gene with protein product		603743		APOL	NA	9325276, 11374903, 16020735	Standard	NM_145343	NM_003661	NA	Approved		uc011amp.2	O14791	OTTHUMG00000030427	ENST00000319136.4:c.54G>T	22.37:g.36651007G>T	ENSP00000317674:p.Glu18Asp	NA	A5PLQ4|O60804|Q5R3P7|Q5R3P8|Q96AB8|Q96PM4|Q9BQ03	37	CCDS13925.1	.	.	.	.	.	.	.	.	.	.	g	12.20	1.865132	0.32977	.	.	ENSG00000100342	ENST00000397278;ENST00000422706;ENST00000426053;ENST00000319136;ENST00000438034;ENST00000427990;ENST00000397279;ENST00000433768;ENST00000440669	T;T;T;T;T;T	0.22945	3.53;3.53;3.17;3.48;1.93;3.53	1.83	0.579	0.17397	.	416.553000	0.01513	U	0.018039	T	0.22627	0.0546	N	0.19112	0.55	0.18873	N	0.999982	D;D;D	0.64830	0.989;0.989;0.994	P;B;P	0.49226	0.496;0.399;0.603	T	0.09400	-1.0676	10	0.56958	D	0.05	.	3.2446	0.06793	0.4761:0.0:0.5239:0.0	.	2;2;18	E9PF24;O14791;O14791-2	.;APOL1_HUMAN;.	D	2;2;2;18;31;2;2;2;2	ENSP00000380448:E2D;ENSP00000411507:E2D;ENSP00000388477:E2D;ENSP00000317674:E18D;ENSP00000391302:E2D;ENSP00000380449:E2D	ENSP00000317674:E18D	E	+	3	2	APOL1	34980953	0.004000	0.15560	0.009000	0.14445	0.224000	0.24922	-0.005000	0.12855	0.149000	0.19098	0.184000	0.17185	GAG	APOL1-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075315.5		+	ENST00000319136.4	Missense_Mutation	SNP	22 : 36651007 - 36651007 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	409	50
DCBLD1	285761	broad.mit.edu	37	6	117841037	117841037	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117841037A>G	ENST00000338728.5	+	3	504	c.384A>G	c.(382-384)gtA>gtG	p.V128V	DCBLD1_ENST00000296955.8_Silent_p.V128V|DCBLD1_ENST00000368503.4_Silent_p.V128V|GOPC_ENST00000467125.1_Intron			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	128	CUB.				cell adhesion	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		CAAGTGAAGTAACCGTCCGCT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	130	134			NA	NA	6		NA											NA				117841037		2203	4300	6503	SO:0001819	synonymous_variant			AK055462	CCDS34522.1	6q22.31	2003-06-20			ENSG00000164465	ENSG00000164465	285761	285761			21479	protein-coding gene	gene with protein product					NA		Standard	NM_173674	NM_173674	NA	Approved	MGC46341, dJ94G16.1	uc003pxs.3	Q8N8Z6	OTTHUMG00000015455	ENST00000338728.5:c.384A>G	6.37:g.117841037A>G		NA	Q5H992|Q8IYK5|Q8N7L9|Q96NH2	37																																																																																				DCBLD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000041979.2		+	ENST00000338728.5	Silent	SNP	6 : 117841037 - 117841037 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	439	90
PCSK7	9159	broad.mit.edu	37	11	117077055	117077055	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117077055G>A	ENST00000320934.3	-	17	2646	c.2016C>T	c.(2014-2016)ggC>ggT	p.G672G	PCSK7_ENST00000529458.1_5'UTR|PCSK7_ENST00000540028.1_3'UTR	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	672					peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CGGTGAAACAGCCTACCAGCA	0.527		NA	T	IGH@	MLCLS									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	0													42	50	47			NA	NA	11		NA											NA				117077055		2201	4296	6497	SO:0001819	synonymous_variant			U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613	9159	9159			8748	protein-coding gene	gene with protein product		604872			NA	8615762, 9820811	Standard	NM_004716	XM_006718938	NA	Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.2016C>T	11.37:g.117077055G>A		NA	B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	37	CCDS8382.1																																																																																			PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385529.2		-	ENST00000320934.3	Silent	SNP	11 : 117077055 - 117077055 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	394	14
PPP2R3A	5523	broad.mit.edu	37	3	135741936	135741936	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:135741936C>T	ENST00000334546.2	+	1	360	c.25C>T	c.(25-27)Cga>Tga	p.R9*	PPP2R3A_ENST00000264977.3_Intron|PPP2R3A_ENST00000490467.1_Intron	NM_181897.2	NP_871626.1	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	0					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AACATCTCTACGAAGGGACCC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	130	130			NA	NA	3		NA											NA				135741936		2203	4300	6503	SO:0001587	stop_gained			L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	5523	5523	3.1.3.16	Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits, EF-hand domain containing	9307	protein-coding gene	gene with protein product		604944	protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform, protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha	PPP2R3	NA	8392071	Standard	NM_002718	NM_002718	NA	Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000334546.2:c.25C>T	3.37:g.135741936C>T	ENSP00000334748:p.Arg9*	NA	A8KAE7|B7ZAE3|Q06189|Q9NPQ5	37	CCDS3088.1	.	.	.	.	.	.	.	.	.	.	C	40	8.049605	0.98629	.	.	ENSG00000073711	ENST00000334546	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4805	0.67579	0.1467:0.8533:0.0:0.0	.	.	.	.	X	9	.	ENSP00000334748:R9X	R	+	1	2	PPP2R3A	137224626	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.390000	0.52523	2.885000	0.99019	0.655000	0.94253	CGA	PPP2R3A-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357234.1		+	ENST00000334546.2	Nonsense_Mutation	SNP	3 : 135741936 - 135741936 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	445	79
CDKAL1	54901	broad.mit.edu	37	6	20781393	20781393	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:20781393C>T	ENST00000378610.1	+	6	545	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L	CDKAL1_ENST00000274695.4_Silent_p.L179L|RP3-348I23.2_ENST00000421167.1_RNA|CDKAL1_ENST00000378624.4_Silent_p.L109L			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	179					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TGTGAGACTGCTGGGTCAGAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	152	153			NA	NA	6		NA											NA				20781393		2203	4300	6503	SO:0001819	synonymous_variant			AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996	54901	54901			21050	protein-coding gene	gene with protein product		611259			NA		Standard	NM_017774	NM_017774	NA	Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.535C>T	6.37:g.20781393C>T		NA	A8K6S0|Q6P385|Q6ZR27|Q9NXB3	37	CCDS4546.1																																																																																			CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039986.1		+	ENST00000378610.1	Silent	SNP	6 : 20781393 - 20781393 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	538	91
TGFBR2	7048	broad.mit.edu	37	3	30732970	30732970	+	Missense_Mutation	SNP	G	G	A	rs104893815		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:30732970G>A	ENST00000295754.5	+	7	1965	c.1583G>A	c.(1582-1584)cGt>cAt	p.R528H	TGFBR2_ENST00000359013.4_Missense_Mutation_p.R553H	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	528	Protein kinase.		R -> C (in LDS1B).|R -> H (in LDS1B).		activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.R528H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CCAGAGGCCCGTCTCACAGCC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)	GRCh37	CM050762	TGFBR2	M	rs104893815						72	68	69			NA	NA	3		NA											NA				30732970		2203	4300	6503	SO:0001583	missense				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513	7048	7048			11773	protein-coding gene	gene with protein product		190182	transforming growth factor, beta receptor II (70-80kD)	MFS2	NA	1319842, 15235604	Standard		NM_001024847	NA	Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1583G>A	3.37:g.30732970G>A	ENSP00000295754:p.Arg528His	NA	B4DTV5|Q15580|Q6DKT6|Q99474	37	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	G	35	5.592391	0.96590	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.99264	-5.65;-5.65	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99732	0.9895	H	0.98507	4.25	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97303	0.9932	9	0.87932	D	0	.	20.2857	0.98533	0.0:0.0:1.0:0.0	.	528;553	P37173;D2JYI1	TGFR2_HUMAN;.	H	528;553;358	ENSP00000295754:R528H;ENSP00000351905:R553H	ENSP00000295754:R528H	R	+	2	0	TGFBR2	30707974	1.000000	0.71417	0.982000	0.44146	0.982000	0.71751	9.869000	0.99810	2.803000	0.96430	0.650000	0.86243	CGT	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252994.2		+	ENST00000295754.5	Missense_Mutation	SNP	3 : 30732970 - 30732970 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	438	78
VTI1A	143187	broad.mit.edu	37	10	114575062	114575062	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114575062C>T	ENST00000393077.2	+	8	690	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C		NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	0					intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		CATCCAGAACCGCATCCTGCT	0.493		NA	T	TCF7L2	colorectal									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		10	10q25.2	143187	vesicle transport through interaction with t-SNAREs homolog 1A		E	0													144	138	140			NA	NA	10		NA											NA				114575062		2057	4191	6248	SO:0001583	missense			BC017052	CCDS7575.2	10q25.2	2012-12-10	2012-12-10		ENSG00000151532	ENSG00000151532	143187	143187			17792	protein-coding gene	gene with protein product		614316	vesicle transport through interaction with t-SNAREs homolog 1A (yeast)		NA	9446565	Standard		NM_145206	NA	Approved	MVti1, Vti1a, Vti1-rp2	uc001kzz.3	Q96AJ9	OTTHUMG00000019063	ENST00000393077.2:c.574C>T	10.37:g.114575062C>T	ENSP00000376792:p.Arg192Cys	NA	A2A307|B4E137	37	CCDS7575.2	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605788	0.87157	.	.	ENSG00000151532	ENST00000393077	.	.	.	6.02	6.02	0.97574	.	3.193000	0.00659	N	0.000585	D	0.86961	0.6059	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.71882	-0.4458	9	0.87932	D	0	-49.539	20.5407	0.99260	0.0:1.0:0.0:0.0	.	192	Q5W0D7	.	C	192	.	ENSP00000376792:R192C	R	+	1	0	VTI1A	114565052	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.263000	0.78421	2.865000	0.98341	0.655000	0.94253	CGC	VTI1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050397.2		+	ENST00000393077.2	Missense_Mutation	SNP	10 : 114575062 - 114575062 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	394	73
PON1	5444	broad.mit.edu	37	7	94940825	94940825	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94940825T>G	ENST00000222381.3	-	5	666	c.435A>C	c.(433-435)aaA>aaC	p.K145N	PON1_ENST00000542556.1_Missense_Mutation_p.K145N	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	145					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	CTTCTTGAAATTTAAACAACT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(119;715 1622 17358 22490 33240)							NA				0													162	155	157			NA	NA	7		NA											NA				94940825		2203	4300	6503	SO:0001583	missense			AF539592	CCDS5638.1	7q21.3	2014-03-14			ENSG00000005421	ENSG00000005421	5444	5444	3.1.1.2	Paraoxonases	9204	protein-coding gene	gene with protein product	esterase A, arylesterase 1	168820		PON	NA	8661009, 15450851	Standard	NM_000446	NM_000446	NA	Approved	ESA	uc003uns.3	P27169	OTTHUMG00000153894	ENST00000222381.3:c.435A>C	7.37:g.94940825T>G	ENSP00000222381:p.Lys145Asn	NA	B2RA40|Q16052|Q6B0J6|Q9UCB1	37	CCDS5638.1	.	.	.	.	.	.	.	.	.	.	T	15.15	2.748396	0.49257	.	.	ENSG00000005421	ENST00000222381;ENST00000542556	T;T	0.44482	0.92;0.92	4.64	1.07	0.20283	Six-bladed beta-propeller, TolB-like (1);	0.146914	0.64402	D	0.000015	T	0.38799	0.1054	M	0.73598	2.24	0.46298	D	0.998975	P;P	0.47191	0.891;0.826	B;B	0.39935	0.314;0.259	T	0.38112	-0.9676	10	0.72032	D	0.01	-24.5318	8.3656	0.32385	0.0:0.312:0.0:0.688	.	145;145	F5H4W9;P27169	.;PON1_HUMAN	N	145	ENSP00000222381:K145N;ENSP00000444854:K145N	ENSP00000222381:K145N	K	-	3	2	PON1	94778761	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	0.796000	0.26986	0.394000	0.25230	0.533000	0.62120	AAA	PON1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000332865.2		-	ENST00000222381.3	Missense_Mutation	SNP	7 : 94940825 - 94940825 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	485	98
DNAH7	56171	broad.mit.edu	37	2	196746544	196746544	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:196746544C>T	ENST00000312428.6	-	36	6036	c.5936G>A	c.(5935-5937)gGa>gAa	p.G1979E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1979	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTCCCAGTTCCTGTTGGTCC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	144	148			NA	NA	2		NA											NA				196746544		1839	4087	5926	SO:0001583	missense			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997	56171	56171		Axonemal dyneins, EF-hand domain containing	18661	protein-coding gene	gene with protein product		610061	dynein, axonemal, heavy polypeptide 7		NA	9373155, 11877439	Standard	NM_018897	NM_018897	NA	Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.5936G>A	2.37:g.196746544C>T	ENSP00000311273:p.Gly1979Glu	NA	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506106	0.85282	.	.	ENSG00000118997	ENST00000312428	D	0.90620	-2.7	5.1	5.1	0.69264	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97250	0.9101	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98479	1.0604	10	0.87932	D	0	.	18.2971	0.90150	0.0:1.0:0.0:0.0	.	1979	Q8WXX0	DYH7_HUMAN	E	1979	ENSP00000311273:G1979E	ENSP00000311273:G1979E	G	-	2	0	DNAH7	196454789	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	7.237000	0.78164	2.665000	0.90641	0.585000	0.79938	GGA	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335202.3		-	ENST00000312428.6	Missense_Mutation	SNP	2 : 196746544 - 196746544 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	576	95
PRL	5617	broad.mit.edu	37	6	22290448	22290448	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:22290448C>T	ENST00000306482.1	-	4	965	c.447G>A	c.(445-447)gaG>gaA	p.E149E	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	149					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					GTTTGGTTTGCTCCTCAATCT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	95	97			NA	NA	6		NA											NA				22290448		2203	4300	6503	SO:0001819	synonymous_variant			D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179	5617	5617			9445	protein-coding gene	gene with protein product		176760			NA		Standard	NM_000948	NM_000948	NA	Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.447G>A	6.37:g.22290448C>T		NA	Q15199|Q92996	37	CCDS4548.1																																																																																			PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043327.1		-	ENST00000306482.1	Silent	SNP	6 : 22290448 - 22290448 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	402	61
E2F5	1875	broad.mit.edu	37	8	86115478	86115478	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86115478C>A	ENST00000418930.2	+	3	690	c.494C>A	c.(493-495)tCc>tAc	p.S165Y	E2F5_ENST00000416274.2_Missense_Mutation_p.S165Y|E2F5_ENST00000517476.1_Missense_Mutation_p.S4Y|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000256117.5_Missense_Mutation_p.S165Y|E2F5_ENST00000521429.1_5'UTR			Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	165	Dimerization (Potential).				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						ATGGACGATTCCATTAATAAT	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	55	56			NA	NA	8		NA											NA				86115478		1832	4093	5925	SO:0001583	missense			X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740	1875	1875			3119	protein-coding gene	gene with protein product		600967			NA	7892279	Standard	NM_001951	NM_001083588	NA	Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000418930.2:c.494C>A	8.37:g.86115478C>A	ENSP00000414312:p.Ser165Tyr	NA	Q16601|Q92756	37	CCDS47886.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468270	0.63625	.	.	ENSG00000133740	ENST00000418930;ENST00000256117;ENST00000416274;ENST00000517476	D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92	5.55	5.55	0.83447	.	0.050297	0.85682	D	0.000000	D	0.88890	0.6560	M	0.69823	2.125	0.80722	D	1	P;P	0.48089	0.905;0.847	P;B	0.49085	0.6;0.284	D	0.89516	0.3775	10	0.59425	D	0.04	-2.4367	19.4996	0.95089	0.0:1.0:0.0:0.0	.	165;165	Q15329-2;Q15329	.;E2F5_HUMAN	Y	165;165;165;4	ENSP00000414312:S165Y;ENSP00000256117:S165Y;ENSP00000398124:S165Y;ENSP00000429120:S4Y	ENSP00000256117:S165Y	S	+	2	0	E2F5	86302730	0.983000	0.35010	1.000000	0.80357	0.926000	0.56050	7.718000	0.84743	2.606000	0.88127	0.650000	0.86243	TCC	E2F5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380273.1		+	ENST00000418930.2	Missense_Mutation	SNP	8 : 86115478 - 86115478 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	133	25
ZC3H6	376940	broad.mit.edu	37	2	113088934	113088934	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113088934C>T	ENST00000409871.1	+	12	2840	c.2439C>T	c.(2437-2439)ggC>ggT	p.G813G	ZC3H6_ENST00000343936.4_Silent_p.G813G	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	813							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CAAATGCTGGCACTAATGTCA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	114	116			NA	NA	2		NA											NA				113088934		1933	4163	6096	SO:0001819	synonymous_variant			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177	376940	376940		Zinc fingers, CCCH-type domain containing	24762	protein-coding gene	gene with protein product			zinc finger CCCH-type domain containing 6	ZC3HDC6	NA		Standard	NM_198581	NM_198581	NA	Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.2439C>T	2.37:g.113088934C>T		NA	A9JR71|Q6ZW96	37	CCDS46393.1																																																																																			ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330551.1		+	ENST00000409871.1	Silent	SNP	2 : 113088934 - 113088934 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	609	92
PCLO	27445	broad.mit.edu	37	7	82544139	82544139	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82544139G>T	ENST00000333891.9	-	7	13500	c.13163C>A	c.(13162-13164)aCc>aAc	p.T4388N	PCLO_ENST00000437081.1_Missense_Mutation_p.T1108N|PCLO_ENST00000423517.2_Missense_Mutation_p.T4388N	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	NA					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGATCCCTGGTGTCTGCAGA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	89	88			NA	NA	7		NA											NA				82544139		2047	4194	6241	SO:0001583	missense			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472	27445	27445			13406	protein-coding gene	gene with protein product	aczonin	604918	piccolo (presynaptic cytomatrix protein)		NA	8900486, 9628581	Standard	NM_014510	NM_014510	NA	Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13163C>A	7.37:g.82544139G>T	ENSP00000334319:p.Thr4388Asn	NA	A4D1A7|A6NNX9|O43373|O60305|Q08E72|Q9BVC8|Q9UIV2|Q9Y6U9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347387	0.41599	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.17691	2.26;2.26	5.75	5.75	0.90469	.	.	.	.	.	T	0.42426	0.1202	M	0.65498	2.005	0.50039	D	0.999844	D;D;D	0.71674	0.988;0.998;0.998	P;D;D	0.66351	0.779;0.943;0.943	T	0.17561	-1.0365	9	0.87932	D	0	.	19.9522	0.97203	0.0:0.0:1.0:0.0	.	4319;4388;4388	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	N	4388;4388;1108	ENSP00000334319:T4388N;ENSP00000388393:T4388N	ENSP00000334319:T4388N	T	-	2	0	PCLO	82382075	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.984000	0.88150	2.725000	0.93324	0.655000	0.94253	ACC	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337368.5		-	ENST00000333891.9	Missense_Mutation	SNP	7 : 82544139 - 82544139 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	243	48
ARID3A	1820	broad.mit.edu	37	19	964313	964313	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:964313C>A	ENST00000263620.3	+	5	1159	c.832C>A	c.(832-834)Ctg>Atg	p.L278M		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	278	ARID.					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGTACGTGCTGGTGACGGA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(29;54 1022 32760 50921)							NA				0													154	117	129			NA	NA	19		NA											NA				964313		2203	4300	6503	SO:0001583	missense			U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017	1820	1820		-	3031	protein-coding gene	gene with protein product		603265	dead ringer-like 1 (Drosophila), AT rich interactive domain 3A (BRIGHT- like)	DRIL1	NA	9722953	Standard	NM_005224	NM_005224	NA	Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.832C>A	19.37:g.964313C>A	ENSP00000263620:p.Leu278Met	NA	Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	37	CCDS12050.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578725	0.65878	.	.	ENSG00000116017	ENST00000263620	T	0.68025	-0.3	4.5	3.2	0.36748	ARID/BRIGHT DNA-binding domain (5);	0.152498	0.45361	D	0.000380	T	0.79423	0.4443	M	0.78916	2.43	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.81448	-0.0928	10	0.72032	D	0.01	-15.9204	10.6806	0.45813	0.0:0.8824:0.0:0.1176	.	278	Q99856	ARI3A_HUMAN	M	278	ENSP00000263620:L278M	ENSP00000263620:L278M	L	+	1	2	ARID3A	915313	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.605000	0.61119	2.061000	0.61500	0.561000	0.74099	CTG	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458219.1		+	ENST00000263620.3	Missense_Mutation	SNP	19 : 964313 - 964313 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	249	43
SFTPC	6440	broad.mit.edu	37	8	22020132	22020132	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22020132C>T	ENST00000524255.1	+	2	64				SFTPC_ENST00000521315.1_Missense_Mutation_p.P30S|SFTPC_ENST00000522109.1_Missense_Mutation_p.P30S|SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000437090.2_Missense_Mutation_p.P30S|SFTPC_ENST00000318561.3_Missense_Mutation_p.P30S			P11686	PSPC_HUMAN	surfactant protein C	NA					respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TCCCTGCTGCCCAGTGCACCT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	140	137			NA	NA	8		NA											NA				22020132		2078	4204	6282	SO:0001627	intron_variant				CCDS43722.1, CCDS55209.1	8p21	2012-10-10	2008-08-26		ENSG00000168484	ENSG00000168484	6440	6440		BRICHOS domain containing	10802	protein-coding gene	gene with protein product	BRICHOS domain containing 6	178620	surfactant, pulmonary-associated protein C	SFTP2	NA	1859376, 16709565	Standard	NM_003018	NM_003018	NA	Approved	SP-C, PSP-C, SMDP2, BRICD6	uc003xay.4	P11686	OTTHUMG00000163775	ENST00000524255.1:c.43-461C>T	8.37:g.22020132C>T		NA	A6XNE4|B2RE00|P11687|Q12793|Q7Z5D0	37		.	.	.	.	.	.	.	.	.	.	C	17.49	3.403037	0.62288	.	.	ENSG00000168484	ENST00000318561;ENST00000521315;ENST00000437090;ENST00000522109;ENST00000518615	D;D;D;D;D	0.95342	-3.68;-3.68;-3.68;-3.68;-3.68	4.54	4.54	0.55810	Surfactant protein C, N-terminal propeptide (1);	0.000000	0.42420	D	0.000715	D	0.96393	0.8823	M	0.67953	2.075	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.999;0.999;0.999	D	0.96590	0.9437	10	0.72032	D	0.01	-24.4444	13.1596	0.59537	0.0:1.0:0.0:0.0	.	30;30;30;30;30	P11686-2;E9PGX3;C9JYF6;P11686;E5RI92	.;.;.;PSPC_HUMAN;.	S	30	ENSP00000316152:P30S;ENSP00000430410:P30S;ENSP00000407931:P30S;ENSP00000429496:P30S;ENSP00000428817:P30S	ENSP00000316152:P30S	P	+	1	0	SFTPC	22076077	0.991000	0.36638	0.580000	0.28601	0.466000	0.32739	1.409000	0.34680	2.234000	0.73211	0.655000	0.94253	CCA	SFTPC-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000375370.1		+	ENST00000524255.1	Intron	SNP	8 : 22020132 - 22020132 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	571	112
ITPR3	3710	broad.mit.edu	37	6	33663516	33663516	+	Missense_Mutation	SNP	C	C	T	rs138851075		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33663516C>T	ENST00000374316.5	+	59	9035	c.7975C>T	c.(7975-7977)Cgc>Tgc	p.R2659C	ITPR3_ENST00000605930.1_Missense_Mutation_p.R2659C			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2659					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						ACGCAGGCAACGCCTAGGCTT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	132	114	120		7975	3.5	0.8	6	dbSNP_134	120	0,8600		0,0,4300	no	missense	ITPR3	NM_002224.3	180	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging	2659/2672	33663516	1,13005	2203	4300	6503	SO:0001583	missense			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433	3710	3710		Ion channels / Inositol triphosphate receptors	6182	protein-coding gene	gene with protein product		147267	inositol 1,4,5-triphosphate receptor, type 3		NA	8081734, 8288584	Standard	NM_002224	NM_002224	NA	Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.7975C>T	6.37:g.33663516C>T	ENSP00000363435:p.Arg2659Cys	NA	Q14649|Q5TAQ2	37	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111247	0.77210	2.27E-4	0.0	ENSG00000096433	ENST00000374316	D	0.95980	-3.87	5.43	3.49	0.39957	.	0.106304	0.64402	D	0.000015	D	0.97340	0.9130	M	0.89214	3.015	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.97884	1.0293	10	0.87932	D	0	-29.3951	12.1209	0.53891	0.5423:0.4577:0.0:0.0	.	2659	Q14573	ITPR3_HUMAN	C	2659	ENSP00000363435:R2659C	ENSP00000363435:R2659C	R	+	1	0	ITPR3	33771494	0.594000	0.26849	0.820000	0.32676	0.980000	0.70556	1.012000	0.29924	1.268000	0.44264	0.561000	0.74099	CGC	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040204.2		+	ENST00000374316.5	Missense_Mutation	SNP	6 : 33663516 - 33663516 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	703	125
HOOK1	51361	broad.mit.edu	37	1	60330860	60330860	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:60330860G>T	ENST00000371208.3	+	18	1944	c.1687G>T	c.(1687-1689)Gaa>Taa	p.E563*	HOOK1_ENST00000395561.2_Nonsense_Mutation_p.E521*|HOOK1_ENST00000465876.1_Intron	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	563					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					GGTCCATGAAGAATTACAGAA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	74	73			NA	NA	1		NA											NA				60330860		2203	4300	6503	SO:0001587	stop_gained			AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709	51361	51361			19884	protein-coding gene	gene with protein product		607820	hook homolog 1 (Drosophila)		NA	9927460	Standard	NM_015888	XM_005270922	NA	Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.1687G>T	1.37:g.60330860G>T	ENSP00000360252:p.Glu563*	NA	A8K8E9|O60561|Q5TG44	37	CCDS612.1	.	.	.	.	.	.	.	.	.	.	G	42	9.638907	0.99226	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	.	.	.	6.03	6.03	0.97812	.	0.047134	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	20.6398	0.99548	0.0:0.0:1.0:0.0	.	.	.	.	X	563;521	.	ENSP00000360252:E563X	E	+	1	0	HOOK1	60103448	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.183000	0.89700	2.881000	0.98747	0.650000	0.86243	GAA	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000024934.1		+	ENST00000371208.3	Nonsense_Mutation	SNP	1 : 60330860 - 60330860 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	268	32
GRHL2	79977	broad.mit.edu	37	8	102611284	102611284	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:102611284G>A	ENST00000251808.3	+	8	1341		c.e8-1		GRHL2_ENST00000395927.1_Splice_Site	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	NA						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TAATGTTACAGCCGATTACAA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	81	83			NA	NA	8		NA											NA				102611284		2203	4300	6503	SO:0001630	splice_region_variant			AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307	79977	79977			2799	protein-coding gene	gene with protein product		608576	deafness, autosomal dominant 28, transcription factor CP2-like 3	DFNA28, TFCP2L3	NA	12393799	Standard	NM_024915	NM_024915	NA	Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.1004-1G>A	8.37:g.102611284G>A		NA	A1L303|Q6NT03|Q9H8B8	37	CCDS34931.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905809	0.92107	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2602	0.98440	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRHL2	102680460	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	9.725000	0.98778	2.861000	0.98227	0.655000	0.94253	.	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313882.1	Intron	+	ENST00000251808.3	Splice_Site	SNP	8 : 102611284 - 102611284 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	204	16
SLC7A9	11136	broad.mit.edu	37	19	33355629	33355629	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33355629C>T	ENST00000023064.4	-	3	332	c.141G>A	c.(139-141)ggG>ggA	p.G47G	SLC7A9_ENST00000590341.1_Silent_p.G47G|SLC7A9_ENST00000587772.1_Silent_p.G47G	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	47					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	AAACGAAGATCCCAGAGCCAA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(181;1335 2108 9644 44178 46689)							NA				0													170	155	160			NA	NA	19		NA											NA				33355629		2203	4300	6503	SO:0001819	synonymous_variant			AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488	11136	11136		Solute carriers	11067	protein-coding gene	gene with protein product		604144		CSNU3	NA	10471498	Standard		NM_014270	NA	Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.141G>A	19.37:g.33355629C>T		NA	B2R9A6	37	CCDS12425.1																																																																																			SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450585.1		-	ENST00000023064.4	Silent	SNP	19 : 33355629 - 33355629 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1086	198
CAMP	820	broad.mit.edu	37	3	48266102	48266102	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48266102C>T	ENST00000296435.2	+	3	484	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	CAMP_ENST00000576243.1_Missense_Mutation_p.R107W	NM_004345.4	NP_004336.3	P49913	CAMP_HUMAN	cathelicidin antimicrobial peptide	107					killing by host of symbiont cells|negative regulation of growth of symbiont on or near host surface	extracellular region				endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCTGGTGAAGCGGTGTATGGG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	133	136			NA	NA	3		NA											NA				48266102		2203	4300	6503	SO:0001583	missense			BC055089	CCDS2762.1, CCDS2762.2	3p21.3	2014-01-30			ENSG00000164047	ENSG00000164047	820	820		Endogenous ligands	1472	protein-coding gene	gene with protein product		600474			NA	7624374	Standard	NM_004345	NM_004345	NA	Approved	CAP18, FALL39, FALL-39, LL37	uc003csj.3	P49913	OTTHUMG00000133526	ENST00000296435.2:c.328C>T	3.37:g.48266102C>T	ENSP00000296435:p.Arg110Trp	NA	Q71SN9	37	CCDS2762.2	.	.	.	.	.	.	.	.	.	.	C	10.08	1.252772	0.22965	.	.	ENSG00000164047	ENST00000296435	.	.	.	5.49	0.3	0.15776	.	1.302650	0.04982	N	0.465755	T	0.27384	0.0672	L	0.28115	0.83	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.25293	-1.0136	9	0.51188	T	0.08	-12.3855	1.361	0.02191	0.1512:0.4512:0.147:0.2506	.	107	P49913	CAMP_HUMAN	W	107	.	ENSP00000296435:R107W	R	+	1	2	CAMP	48241106	0.008000	0.16893	0.009000	0.14445	0.756000	0.42949	-0.105000	0.10907	0.099000	0.17552	-0.254000	0.11334	CGG	CAMP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257501.2		+	ENST00000296435.2	Missense_Mutation	SNP	3 : 48266102 - 48266102 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	589	83
MARK4	57787	broad.mit.edu	37	19	45774951	45774951	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45774951C>T	ENST00000300843.4	+	8	1068	c.771C>T	c.(769-771)gaC>gaT	p.D257D	MARK4_ENST00000262891.4_Silent_p.D257D	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	257	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGCCCTTCGACGGGCACAACC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	52	50			NA	NA	19		NA											NA				45774951		2203	4300	6503	SO:0001819	synonymous_variant			AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	57787	57787	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	MAP/microtubule affinity-regulating kinase like 1	MARKL1	NA	23400999, 11326310, 9108484	Standard	NM_031417	NM_001199867	NA	Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000300843.4:c.771C>T	19.37:g.45774951C>T		NA	Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	37	CCDS12658.1																																																																																			MARK4-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457538.1		+	ENST00000300843.4	Silent	SNP	19 : 45774951 - 45774951 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	556	116
RAD51AP2	729475	broad.mit.edu	37	2	17698488	17698488	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17698488C>T	ENST00000399080.2	-	1	1218	c.1195G>A	c.(1195-1197)Gtt>Att	p.V399I		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	399										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATATGTCTAACGTTACAGTCC	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	53	53			NA	NA	2		NA											NA				17698488		1805	4076	5881	SO:0001583	missense			AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842	729475	729475			34417	protein-coding gene	gene with protein product					NA	16990250	Standard	NM_001099218	NM_001099218	NA	Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.1195G>A	2.37:g.17698488C>T	ENSP00000382030:p.Val399Ile	NA		37	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	C	0.706	-0.788986	0.02884	.	.	ENSG00000214842	ENST00000399080	T	0.25912	1.77	4.22	0.373	0.16178	.	.	.	.	.	T	0.06600	0.0169	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39354	-0.9618	9	0.05620	T	0.96	.	5.0445	0.14477	0.0:0.3547:0.1593:0.486	.	399	Q09MP3	R51A2_HUMAN	I	399	ENSP00000382030:V399I	ENSP00000382030:V399I	V	-	1	0	RAD51AP2	17561969	0.001000	0.12720	0.001000	0.08648	0.054000	0.15201	0.865000	0.27940	0.245000	0.21373	-0.440000	0.05779	GTT	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323801.3		-	ENST00000399080.2	Missense_Mutation	SNP	2 : 17698488 - 17698488 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	351	49
SELO	0	broad.mit.edu	37	22	50655270	50655270	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50655270C>T	ENST00000380903.2	+	7	1711	c.1653C>T	c.(1651-1653)aaC>aaT	p.N551N	SELO_ENST00000492092.1_3'UTR	NM_031454.1	NP_113642.1	Q9BVL4	SELO_HUMAN		NA											NA		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		AGAGCAGGAACCAGGGCCACT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	32	29			NA	NA	22		NA											NA				50655270		2185	4272	6457	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000380903.2:c.1653C>T	22.37:g.50655270C>T		NA	Q2TAL2|Q5JZ81|Q8WUI0	37	CCDS43034.1																																																																																			SELO-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	NA	protein_coding	OTTHUMT00000075003.2		+	ENST00000380903.2	Silent	SNP	22 : 50655270 - 50655270 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	229	28
ABCB5	340273	broad.mit.edu	37	7	20682938	20682938	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20682938C>A	ENST00000404938.2	+	6	1098	c.446C>A	c.(445-447)gCa>gAa	p.A149E		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	333	ABC transporter 1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TCAGTTTTGGCACAGGACATC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	84	86			NA	NA	7		NA											NA				20682938		1568	3582	5150	SO:0001583	missense			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846	340273	340273		ATP binding cassette transporters / subfamily B	46	protein-coding gene	gene with protein product	P-glycoprotein ABCB5, ATP-binding cassette protein	611785			NA	8894702, 12960149	Standard	NM_178559	NM_001163942	NA	Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.446C>A	7.37:g.20682938C>A	ENSP00000384881:p.Ala149Glu	NA	A4D131|B7WPL1|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	37	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.441668	0.25900	.	.	ENSG00000004846	ENST00000404938	D	0.88509	-2.39	3.75	3.75	0.43078	.	.	.	.	.	D	0.85217	0.5646	L	0.43152	1.355	0.80722	D	1	P	0.36171	0.541	B	0.36608	0.229	D	0.87183	0.2229	9	0.87932	D	0	.	13.867	0.63594	0.0:1.0:0.0:0.0	.	149	A7BKA4	.	E	149	ENSP00000384881:A149E	ENSP00000384881:A149E	A	+	2	0	ABCB5	20649463	0.898000	0.30612	0.873000	0.34254	0.154000	0.21943	1.722000	0.38042	2.398000	0.81561	0.563000	0.77884	GCA	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326736.2		+	ENST00000404938.2	Missense_Mutation	SNP	7 : 20682938 - 20682938 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	256	34
MYOZ3	91977	broad.mit.edu	37	5	150052037	150052037	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150052037G>T	ENST00000297130.4	+	6	759	c.560G>T	c.(559-561)aGc>aTc	p.S187I	MYOZ3_ENST00000520112.1_Missense_Mutation_p.Q103H|MYOZ3_ENST00000517768.1_Missense_Mutation_p.S187I	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2	Q8TDC0	MYOZ3_HUMAN	myozenin 3	187	Binding to ACTN2.					sarcomere	protein binding			large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACACCCCCAGCCCCAACGAC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	43	42			NA	NA	5		NA											NA				150052037		2203	4300	6503	SO:0001583	missense			AF480443	CCDS4309.1	5q33.2	2008-07-18			ENSG00000164591	ENSG00000164591	91977	91977			18565	protein-coding gene	gene with protein product	calsarcin 3, FATZ related protein 3	610735			NA	11842093	Standard	NM_001122853	NM_001122853	NA	Approved	CS-3, CS3, FRP3	uc003lsr.3	Q8TDC0	OTTHUMG00000130077	ENST00000297130.4:c.560G>T	5.37:g.150052037G>T	ENSP00000297130:p.Ser187Ile	NA	B2R9Q4|Q8IVM1|Q8IVN1	37	CCDS4309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.004|6.004	0.369069|0.369069	0.11352|0.11352	.|.	.|.	ENSG00000164591|ENSG00000164591	ENST00000520112|ENST00000517768;ENST00000297130;ENST00000523553	.|T;T;T	.|0.64803	.|-0.12;-0.12;-0.12	4.71|4.71	0.856|0.856	0.19019|0.19019	.|.	.|0.558332	.|0.17869	.|N	.|0.159246	T|T	0.41766|0.41766	0.1173|0.1173	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.12156	.|0.007	T|T	0.18935|0.18935	-1.0321|-1.0321	6|10	0.87932|0.35671	D|T	0|0.21	-3.4812|-3.4812	4.3584|4.3584	0.11190|0.11190	0.2635:0.0:0.5748:0.1616|0.2635:0.0:0.5748:0.1616	.|.	.|187	.|Q8TDC0	.|MYOZ3_HUMAN	H|I	103|187;187;95	.|ENSP00000428815:S187I;ENSP00000297130:S187I;ENSP00000430913:S95I	ENSP00000429439:Q103H|ENSP00000297130:S187I	Q|S	+|+	3|2	2|0	MYOZ3|MYOZ3	150032230|150032230	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.011000|0.011000	0.07611|0.07611	-0.065000|-0.065000	0.11617|0.11617	-0.035000|-0.035000	0.13691|0.13691	-0.254000|-0.254000	0.11334|0.11334	CAG|AGC	MYOZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252369.1		+	ENST00000297130.4	Missense_Mutation	SNP	5 : 150052037 - 150052037 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	189	32
ABCD3	5825	broad.mit.edu	37	1	94955289	94955289	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94955289C>A	ENST00000370214.4	+	14	1190	c.1166C>A	c.(1165-1167)gCt>gAt	p.A389D	ABCD3_ENST00000536817.1_Missense_Mutation_p.A316D|ABCD3_ENST00000454898.2_Missense_Mutation_p.A413D|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000394233.2_Missense_Mutation_p.A279D	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	389					peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		AGTTTTACTGCTCGGATTACA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	59	59			NA	NA	1		NA											NA				94955289		2203	4300	6503	SO:0001583	missense			M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528	5825	5825		ATP binding cassette transporters / subfamily D	67	protein-coding gene	gene with protein product		170995		PXMP1	NA	1301993, 8449508	Standard	NM_002858	NM_002858	NA	Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1166C>A	1.37:g.94955289C>A	ENSP00000359233:p.Ala389Asp	NA	D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	37	CCDS749.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203575	0.79127	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000536817;ENST00000370214	D;D;D;D	0.97710	-3.44;-4.5;-4.5;-4.5	5.74	5.74	0.90152	ABC transporter, transmembrane domain, type 1 (1);	0.051119	0.85682	D	0.000000	D	0.98015	0.9346	M	0.66506	2.035	0.80722	D	1	P;D;P	0.63046	0.913;0.992;0.751	B;P;B	0.57101	0.382;0.813;0.382	D	0.98364	1.0550	10	0.72032	D	0.01	-15.5917	19.9326	0.97124	0.0:1.0:0.0:0.0	.	413;279;389	E7EUE1;P28288-2;P28288	.;.;ABCD3_HUMAN	D	279;413;316;389	ENSP00000377780:A279D;ENSP00000403357:A413D;ENSP00000440692:A316D;ENSP00000359233:A389D	ENSP00000359233:A389D	A	+	2	0	ABCD3	94727877	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.720000	0.93068	0.650000	0.86243	GCT	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029597.1		+	ENST00000370214.4	Missense_Mutation	SNP	1 : 94955289 - 94955289 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	175	43
EIF4G3	8672	broad.mit.edu	37	1	21268446	21268446	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21268446T>C	ENST00000602326.1	-	12	1634	c.1051A>G	c.(1051-1053)Aat>Gat	p.N351D	EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000264211.8_Missense_Mutation_p.N345D|EIF4G3_ENST00000356916.3_Missense_Mutation_p.N356D|EIF4G3_ENST00000400422.1_Missense_Mutation_p.N345D|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000374937.3_Missense_Mutation_p.N351D|EIF4G3_ENST00000374927.4_Missense_Mutation_p.N345D	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	345					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GGAATATCATTAGGTGCTACA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	160	161			NA	NA	1		NA											NA				21268446		2203	4300	6503	SO:0001583	missense			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151	8672	8672			3298	protein-coding gene	gene with protein product		603929			NA	9418880	Standard	NM_003760	NM_001198801	NA	Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000602326.1:c.1051A>G	1.37:g.21268446T>C	ENSP00000473510:p.Asn351Asp	NA	Q15597|Q5SWC3|Q8NEN1	37	CCDS55580.1	.	.	.	.	.	.	.	.	.	.	T	7.730	0.699011	0.15106	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374937;ENST00000356916;ENST00000374927;ENST00000537059	T;T;T;T	0.21191	2.02;2.02;2.02;2.02	6.17	5.03	0.67393	.	0.349556	0.32578	N	0.005906	T	0.10208	0.0250	N	0.14661	0.345	0.22541	N	0.99901	B;B;B;B;B	0.32467	0.185;0.167;0.372;0.023;0.094	B;B;B;B;B	0.30316	0.049;0.016;0.114;0.01;0.01	T	0.29305	-1.0016	10	0.13470	T	0.59	-2.3801	7.646	0.28321	0.0:0.073:0.3841:0.5429	.	345;540;471;351;345	B4DXR2;Q59GJ0;B1AN89;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	D	345;541;345;351;471;345;356	ENSP00000264211:N345D;ENSP00000383274:N345D;ENSP00000364073:N351D;ENSP00000364062:N345D	ENSP00000264211:N345D	N	-	1	0	EIF4G3	21141033	0.477000	0.25909	1.000000	0.80357	0.982000	0.71751	0.318000	0.19504	1.134000	0.42165	0.533000	0.62120	AAT	EIF4G3-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000467634.1		-	ENST00000602326.1	Missense_Mutation	SNP	1 : 21268446 - 21268446 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	986	98
DHX57	90957	broad.mit.edu	37	2	39033740	39033740	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39033740A>G	ENST00000295373.6	-	22	3903	c.3777T>C	c.(3775-3777)gaT>gaC	p.D1259D		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1259							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GTACATATCCATCGTTCTTGG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(191;1090 2095 4375 23729 47341)							NA				0													221	189	200			NA	NA	2		NA											NA				39033740		2203	4300	6503	SO:0001819	synonymous_variant			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214	90957	90957		DEAH-boxes	20086	protein-coding gene	gene with protein product					NA		Standard	NM_145646	NM_198963	NA	Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.3777T>C	2.37:g.39033740A>G		NA	A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	37	CCDS1800.1																																																																																			DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219940.2		-	ENST00000295373.6	Silent	SNP	2 : 39033740 - 39033740 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	594	50
PDLIM3	27295	broad.mit.edu	37	4	186425703	186425703	+	Silent	SNP	C	C	T	rs61734674	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186425703C>T	ENST00000284770.5	-	7	904	c.831G>A	c.(829-831)ccG>ccA	p.P277P	PDLIM3_ENST00000284771.6_Silent_p.P229P|PDLIM3_ENST00000284767.5_3'UTR	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	277						sarcomere	zinc ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		CTTTCGTCACCGGAGCTCTCA	0.542		NA											C	13	0.01	0.02	0.01	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	0.006	0.993	LOWCOV,EXOME	NA	NA	7e-04	SNP								NA				0								C	,	135,4271	96.7+/-135.4	4,127,2072	65	57	60		687,831	-11.1	0.4	4	dbSNP_129	60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PDLIM3	NM_001114107.3,NM_014476.4	,	4,128,6371	TT,TC,CC	NA	0.0116,3.064,1.0457	,	229/317,277/365	186425703	136,12870	2203	4300	6503	SO:0001819	synonymous_variant			AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553	27295	27295			20767	protein-coding gene	gene with protein product		605889			NA	10063829, 8828038	Standard	NM_014476	NM_014476	NA	Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.831G>A	4.37:g.186425703C>T		NA	B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	37	CCDS3844.1																																																																																			PDLIM3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360499.2		-	ENST00000284770.5	Silent	SNP	4 : 186425703 - 186425703 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	191	30
TUBA3C	7278	broad.mit.edu	37	13	19751686	19751686	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:19751686C>T	ENST00000400113.3	-	4	541	c.437G>A	c.(436-438)gGc>gAc	p.G146D		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	146					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GAACCCAGAGCCAGTGCCACC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	69	69			NA	NA	13		NA											NA				19751686		2203	4300	6503	SO:0001583	missense			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033	7278	7278		Tubulins	12408	protein-coding gene	gene with protein product		602528	tubulin, alpha 2	TUBA2	NA	9465305	Standard	NM_006001	NM_006001	NA	Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.437G>A	13.37:g.19751686C>T	ENSP00000382982:p.Gly146Asp	NA	A6NJQ0|Q5W099|Q6PEY3|Q96F18	37	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	c	9.493	1.101209	0.20632	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.96200	-3.94	1.19	1.19	0.21007	.	0.000000	0.48286	U	0.000187	D	0.95478	0.8531	.	.	.	0.51482	D	0.999924	.	.	.	.	.	.	D	0.94286	0.7524	7	0.87932	D	0	.	8.3041	0.32032	0.0:1.0:0.0:0.0	.	.	.	.	D	146	ENSP00000382982:G146D	ENSP00000354037:G146D	G	-	2	0	TUBA3C	18649686	1.000000	0.71417	0.994000	0.49952	0.186000	0.23388	6.253000	0.72453	0.966000	0.38159	0.162000	0.16502	GGC	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044007.2		-	ENST00000400113.3	Missense_Mutation	SNP	13 : 19751686 - 19751686 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	490	62
ZNF677	342926	broad.mit.edu	37	19	53747046	53747046	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53747046G>A	ENST00000598513.1	-	4	270	c.120C>T	c.(118-120)aaC>aaT	p.N40N	ZNF677_ENST00000601413.1_Silent_p.N40N|ZNF677_ENST00000598806.1_Silent_p.N40N|ZNF677_ENST00000333952.4_Silent_p.N40N|ZNF677_ENST00000594681.1_Silent_p.N40N|ZNF677_ENST00000599012.1_Silent_p.N40N|ZNF677_ENST00000601828.1_Silent_p.N40N	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		GGTTCCTGTAGTTCTCCAACA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	114	118			NA	NA	19		NA											NA				53747046		2203	4300	6503	SO:0001819	synonymous_variant			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928	342926	342926		Zinc fingers, C2H2-type, -	28730	protein-coding gene	gene with protein product	hypothetical protein MGC48625				NA	12477932	Standard	NM_182609	NM_182609	NA	Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.120C>T	19.37:g.53747046G>A		NA		37	CCDS12861.1																																																																																			ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464189.1		-	ENST00000598513.1	Silent	SNP	19 : 53747046 - 53747046 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	531	98
TAF1	6872	broad.mit.edu	37	X	70586298	70586298	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70586298A>G	ENST00000373790.4	+	1	185	c.134A>G	c.(133-135)aAc>aGc	p.N45S	TAF1_ENST00000423759.1_Missense_Mutation_p.N45S|TAF1_ENST00000449580.1_Missense_Mutation_p.N45S|TAF1_ENST00000276072.3_Missense_Mutation_p.N45S	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	45	Protein kinase 1.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CTTTTCGGCAACATCAATGGA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	34	34			NA	NA	X		NA											NA				70586298		2203	4300	6503	SO:0001583	missense				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133	6872	6872		Chromatin-modifying enzymes / K-acetyltransferases	11535	protein-coding gene	gene with protein product		313650	TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD, dystonia 3 (with Parkinsonism)	TAF2A, BA2R, CCG1, CCGS, DYT3	NA	3556424, 12928496, 17952504	Standard	NM_004606	XM_005262295	NA	Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.134A>G	X.37:g.70586298A>G	ENSP00000362895:p.Asn45Ser	NA	A5CVD0|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	37	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	27.5	4.836481	0.91117	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.49139	1.05;1.2;0.83;0.79	4.99	4.99	0.66335	TAFII-230 TBP-binding (2);	0.000000	0.85682	D	0.000000	T	0.67002	0.2847	M	0.80616	2.505	0.58432	D	0.999995	P;D	0.61697	0.897;0.99	P;D	0.63703	0.498;0.917	T	0.72364	-0.4316	10	0.87932	D	0	.	12.403	0.55424	1.0:0.0:0.0:0.0	.	45;45	P21675;P21675-2	TAF1_HUMAN;.	S	45	ENSP00000362895:N45S;ENSP00000389000:N45S;ENSP00000406549:N45S;ENSP00000276072:N45S	ENSP00000276072:N45S	N	+	2	0	TAF1	70503023	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.385000	0.90163	1.790000	0.52503	0.414000	0.27820	AAC	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058995.2		+	ENST00000373790.4	Missense_Mutation	SNP	X : 70586298 - 70586298 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	147	44
DEFB128	245939	broad.mit.edu	37	20	168663	168663	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:168663C>T	ENST00000334391.4	-	2	203	c.146G>A	c.(145-147)gGg>gAg	p.G49E		NM_001037732.1	NP_001032821.1	Q7Z7B8	DB128_HUMAN	defensin, beta 128	49					defense response to bacterium	extracellular region				breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		all_cancers(10;0.00499)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			ACATAATTTCCCACTTAGACA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													344	319	328			NA	NA	20		NA											NA				168663		2203	4300	6503	SO:0001583	missense			AF525930	CCDS33430.1	20p13	2011-03-29			ENSG00000185982	ENSG00000185982	245939	245939		Defensins, beta	18106	protein-coding gene	gene with protein product	defensin, beta 28				NA	11854508, 16033865	Standard	NM_001037732	NM_001037732	NA	Approved	DEFB-28	uc002wcz.1	Q7Z7B8	OTTHUMG00000043057	ENST00000334391.4:c.146G>A	20.37:g.168663C>T	ENSP00000335382:p.Gly49Glu	NA	B2RU29	37	CCDS33430.1	.	.	.	.	.	.	.	.	.	.	c	14.49	2.550653	0.45383	.	.	ENSG00000185982	ENST00000334391	T	0.13538	2.58	4.3	2.38	0.29361	.	0.427123	0.20219	N	0.096725	T	0.17874	0.0429	.	.	.	0.09310	N	1	P	0.42078	0.77	P	0.48840	0.592	T	0.04840	-1.0923	9	0.66056	D	0.02	-4.7649	6.5449	0.22400	0.0:0.7865:0.0:0.2135	.	49	Q7Z7B8	DB128_HUMAN	E	49	ENSP00000335382:G49E	ENSP00000335382:G49E	G	-	2	0	DEFB128	116663	0.002000	0.14202	0.144000	0.22314	0.081000	0.17604	0.437000	0.21543	0.751000	0.32900	0.651000	0.88453	GGG	DEFB128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000101361.2		-	ENST00000334391.4	Missense_Mutation	SNP	20 : 168663 - 168663 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1168	212
MUC16	94025	broad.mit.edu	37	19	9060121	9060121	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9060121T>A	ENST00000397910.4	-	3	27528	c.27325A>T	c.(27325-27327)Act>Tct	p.T9109S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9111	Ser-rich.|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						TGAGATGCAGTTGAGTGGGTC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	110	113			NA	NA	19		NA											NA				9060121		1923	4137	6060	SO:0001583	missense			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.27325A>T	19.37:g.9060121T>A	ENSP00000381008:p.Thr9109Ser	NA	Q6ZQW5|Q96RK2	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	9.422	1.083164	0.20309	.	.	ENSG00000181143	ENST00000397910	T	0.26223	1.75	2.5	-4.42	0.03579	.	.	.	.	.	T	0.12178	0.0296	N	0.24115	0.695	.	.	.	B	0.23990	0.095	B	0.20767	0.031	T	0.29671	-1.0004	8	0.87932	D	0	.	0.5924	0.00730	0.1927:0.3402:0.1947:0.2725	.	9109	B5ME49	.	S	9109	ENSP00000381008:T9109S	ENSP00000381008:T9109S	T	-	1	0	MUC16	8921121	0.000000	0.05858	0.000000	0.03702	0.363000	0.29612	-2.678000	0.00839	-0.967000	0.03582	0.378000	0.23410	ACT	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Missense_Mutation	SNP	19 : 9060121 - 9060121 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	431	79
USP11	8237	broad.mit.edu	37	X	47103933	47103933	+	Missense_Mutation	SNP	C	C	A	rs143527670		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47103933C>A	ENST00000377107.2	+	14	2181	c.1827C>A	c.(1825-1827)gaC>gaA	p.D609E	USP11_ENST00000218348.3_Missense_Mutation_p.D652E			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	652					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						ATGATGAGGACGATGGGGATG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	63	68			NA	NA	X		NA											NA				47103933		2203	4300	6503	SO:0001583	missense			U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226	8237	8237		Ubiquitin-specific peptidases	12609	protein-coding gene	gene with protein product		300050	ubiquitin specific protease 11		NA	12838346	Standard	NM_004651	XM_005272674	NA	Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000377107.2:c.1827C>A	X.37:g.47103933C>A	ENSP00000366311:p.Asp609Glu	NA	B2RTX1|Q8IUG6|Q9BWE1	37		.	.	.	.	.	.	.	.	.	.	C	1.752	-0.488887	0.04352	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.19806	2.13;2.12	5.29	-10.6	0.00265	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.135832	0.33496	N	0.004844	T	0.08088	0.0202	N	0.17082	0.46	0.19945	N	0.999943	B;B	0.30511	0.011;0.282	B;B	0.25506	0.061;0.057	T	0.08330	-1.0727	10	0.11182	T	0.66	-11.0471	15.5878	0.76499	0.0787:0.6963:0.0:0.225	.	379;652	B3KP28;P51784	.;UBP11_HUMAN	E	609;652	ENSP00000366311:D609E;ENSP00000218348:D652E	ENSP00000218348:D652E	D	+	3	2	USP11	46988877	0.001000	0.12720	0.049000	0.19019	0.845000	0.48019	-4.332000	0.00251	-3.730000	0.00114	-1.851000	0.00568	GAC	USP11-002	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000056399.2		+	ENST00000377107.2	Missense_Mutation	SNP	X : 47103933 - 47103933 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	219	46
RELN	5649	broad.mit.edu	37	7	103276725	103276725	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103276725G>A	ENST00000428762.1	-	18	2419	c.2260C>T	c.(2260-2262)Cgg>Tgg	p.R754W	RELN_ENST00000424685.2_Missense_Mutation_p.R754W|RELN_ENST00000343529.5_Missense_Mutation_p.R754W	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	754					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)		AGCTGACGCCGCCCATCTTTG	0.443		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													74	65	68			NA	NA	7		NA											NA				103276725		2203	4300	6503	SO:0001583	missense				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.2260C>T	7.37:g.103276725G>A	ENSP00000392423:p.Arg754Trp	NA	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420106	0.62622	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.26518	1.73;1.73;1.73	5.76	2.0	0.26442	.	0.000000	0.85682	D	0.000000	T	0.43567	0.1253	L	0.50333	1.59	0.50632	D	0.999888	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.988	T	0.24764	-1.0151	10	0.62326	D	0.03	.	14.2494	0.66009	0.0:0.0:0.4862:0.5137	.	754;754	P78509-2;P78509	.;RELN_HUMAN	W	754	ENSP00000392423:R754W;ENSP00000345694:R754W;ENSP00000388446:R754W	ENSP00000345694:R754W	R	-	1	2	RELN	103063961	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	1.132000	0.31418	0.091000	0.17302	-0.282000	0.10007	CGG	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348148.1		-	ENST00000428762.1	Missense_Mutation	SNP	7 : 103276725 - 103276725 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	197	39
RBM48	84060	broad.mit.edu	37	7	92164195	92164195	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92164195G>T	ENST00000481551.1	+	4	969	c.928G>T	c.(928-930)Gga>Tga	p.G310*	RBM48_ENST00000265732.5_Nonsense_Mutation_p.G310*			Q5RL73	CG064_HUMAN	RNA binding motif protein 48	310							nucleotide binding				NA						GATTATGATTGGACCTCTGTT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	57	57			NA	NA	7		NA											NA				92164195		1869	4108	5977	SO:0001587	stop_gained			AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993	84060	84060		RNA binding motif (RRM) containing	21785	protein-coding gene	gene with protein product			chromosome 7 open reading frame 64	C7orf64	NA		Standard	NM_032120	NM_032120	NA	Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000481551.1:c.928G>T	7.37:g.92164195G>T	ENSP00000419242:p.Gly310*	NA	B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	37		.	.	.	.	.	.	.	.	.	.	G	36	5.797389	0.96952	.	.	ENSG00000127993	ENST00000265732;ENST00000481551;ENST00000450580	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-0.3793	19.0892	0.93219	0.0:0.0:1.0:0.0	.	.	.	.	X	310	.	ENSP00000265732:G310X	G	+	1	0	C7orf64	92002131	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.956000	0.93066	2.746000	0.94184	0.591000	0.81541	GGA	RBM48-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000356077.1		+	ENST00000481551.1	Nonsense_Mutation	SNP	7 : 92164195 - 92164195 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	336	75
AMOTL1	154810	broad.mit.edu	37	11	94554837	94554837	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94554837G>A	ENST00000539727.1	+	0	228				AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000433060.2_Silent_p.P421P|AMOTL1_ENST00000317829.8_Silent_p.P371P			Q8IY63	AMOL1_HUMAN	angiomotin like 1	NA						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CACAGCCCCCGCCTGCCGCCT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		2,4040		0,2,2019	32	37	36		1263	-4.8	0.2	11		36	1,8323		0,1,4161	no	coding-synonymous	AMOTL1	NM_130847.2		0,3,6180	AA,AG,GG	NA	0.012,0.0495,0.0243		421/957	94554837	3,12363	2021	4162	6183	SO:0001624	3_prime_UTR_variant			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025	154810	154810			17811	protein-coding gene	gene with protein product	junction-enriched and associated protein	614657			NA	11733531	Standard	NM_130847	XM_005273798	NA	Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000539727.1:c.*225G>A	11.37:g.94554837G>A		NA	Q63HK7|Q8NDN0|Q8WXD1|Q96CM5	37																																																																																				AMOTL1-006	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000397843.1		+	ENST00000539727.1	3'UTR	SNP	11 : 94554837 - 94554837 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	189	43
BATF	10538	broad.mit.edu	37	14	76012831	76012831	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76012831C>T	ENST00000286639.6	+	3	453	c.195C>T	c.(193-195)aaC>aaT	p.N65N	BATF_ENST00000555504.1_Intron|BATF_ENST00000555795.1_3'UTR	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	65	Leucine-zipper.					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		AGAAACAGAACGCGGCTCTAC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	56	60			NA	NA	14		NA											NA				76012831		2203	4300	6503	SO:0001819	synonymous_variant			AF016898	CCDS9843.1	14q24	2013-01-10				ENSG00000156127	10538	10538		basic leucine zipper proteins	958	protein-coding gene	gene with protein product	activating transcription factor B, SF-HT-activated gene 2	612476			NA	8570175, 8630063	Standard	NM_006399	NM_006399	NA	Approved	B-ATF, SFA-2, BATF1	uc001xrr.3	Q16520		ENST00000286639.6:c.195C>T	14.37:g.76012831C>T		NA		37	CCDS9843.1																																																																																			BATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413669.1		+	ENST00000286639.6	Silent	SNP	14 : 76012831 - 76012831 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	290	24
MTL5	9633	broad.mit.edu	37	11	68517673	68517673	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68517673G>A	ENST00000443940.2	-	2	542	c.456C>T	c.(454-456)ggC>ggT	p.G152G	MTL5_ENST00000255087.5_Silent_p.G152G|MTL5_ENST00000540869.1_5'UTR|MTL5_ENST00000544963.1_Silent_p.G152G			Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	152					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			TCATGCGGACGCCCGGGTGGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													10	11	11			NA	NA	11		NA											NA				68517673		2178	4277	6455	SO:0001819	synonymous_variant			U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749	9633	9633			7446	protein-coding gene	gene with protein product	CXC domain containing 2	604374			NA	1091092	Standard	NM_004923	XR_428932	NA	Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000443940.2:c.456C>T	11.37:g.68517673G>A		NA	A8K8J3|Q4G182|Q6P2E2|Q8NCC8	37																																																																																				MTL5-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000396848.1		-	ENST00000443940.2	Silent	SNP	11 : 68517673 - 68517673 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	98	21
POMGNT1	55624	broad.mit.edu	37	1	46663544	46663544	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46663544C>A	ENST00000371992.1	-	2	601		c.e2-1		POMGNT1_ENST00000371986.3_Splice_Site|POMGNT1_ENST00000371984.3_Splice_Site|POMGNT1_ENST00000396420.3_Splice_Site	NM_001243766.1	NP_001230695	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	NA					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					CTTCAGGAATCTGAAGGGACC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	35	35			NA	NA	1		NA											NA				46663544		2203	4300	6503	SO:0001630	splice_region_variant				CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	55624	55624	2.4.1.-	Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases	19139	protein-coding gene	gene with protein product	protein O-mannose beta-1,2-N-acetylglucosaminyltransferase	606822	muscle-eye-brain disease, protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase	MEB	NA	11742540, 12788071	Standard	NM_017739	NM_017739	NA	Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371992.1:c.50-1G>T	1.37:g.46663544C>A		NA	D3DQ16|Q5VST2|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	37	CCDS57995.1																																																																																			POMGNT1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000020147.1	Intron	-	ENST00000371992.1	Splice_Site	SNP	1 : 46663544 - 46663544 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	238	48
ZNRF3	84133	broad.mit.edu	37	22	29446300	29446300	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29446300G>A	ENST00000544604.2	+	8	2306	c.2131G>A	c.(2131-2133)Gcc>Acc	p.A711T	ZNRF3_ENST00000402174.1_Missense_Mutation_p.A611T|ZNRF3_ENST00000406323.3_Missense_Mutation_p.A611T|ZNRF3_ENST00000332811.4_Missense_Mutation_p.A611T	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	711						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GCCGTCGTGTGCCTGCTGCTG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													10	12	11			NA	NA	22		NA											NA				29446300		1936	4099	6035	SO:0001583	missense			AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579	84133	84133		RING-type (C3HC4) zinc fingers	18126	protein-coding gene	gene with protein product		612062			NA	10574461	Standard	XM_290972	NM_032173	NA	Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.2131G>A	22.37:g.29446300G>A	ENSP00000443824:p.Ala711Thr	NA	Q6ICH1|Q6NTF8|Q8WU18	37	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	G	9.245	1.039167	0.19669	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.01	-0.87	0.10646	.	0.391529	0.31721	N	0.007180	T	0.71108	0.3301	L	0.45581	1.43	0.26122	N	0.980535	B	0.18863	0.031	B	0.13407	0.009	T	0.56214	-0.8016	10	0.26408	T	0.33	-15.1449	6.8353	0.23933	0.2316:0.2021:0.5663:0.0	.	711	Q9ULT6	ZNRF3_HUMAN	T	711;611;418;611;611	ENSP00000443824:A711T;ENSP00000328614:A611T;ENSP00000384456:A611T;ENSP00000384553:A611T	ENSP00000328614:A611T	A	+	1	0	ZNRF3	27776300	0.995000	0.38212	0.990000	0.47175	0.411000	0.31082	1.868000	0.39509	0.515000	0.28320	-0.140000	0.14226	GCC	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320943.2		+	ENST00000544604.2	Missense_Mutation	SNP	22 : 29446300 - 29446300 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	190	38
GNPDA1	10007	broad.mit.edu	37	5	141384674	141384674	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141384674G>A	ENST00000513454.1	-	5	455	c.417C>T	c.(415-417)ggC>ggT	p.G139G	GNPDA1_ENST00000458112.2_Silent_p.G105G|GNPDA1_ENST00000311337.6_Silent_p.G139G|GNPDA1_ENST00000503794.1_Silent_p.G139G|GNPDA1_ENST00000542860.1_Intron|GNPDA1_ENST00000500692.2_Silent_p.G139G|GNPDA1_ENST00000508177.1_Silent_p.G139G			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	139					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCATCAGGGCCGATGCCTA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	44	45			NA	NA	5		NA											NA				141384674		2203	4300	6503	SO:0001819	synonymous_variant			AF048826	CCDS4272.1	5q21	2008-02-05	2003-10-17	2003-10-22	ENSG00000113552	ENSG00000113552	10007	10007	3.5.99.6		4417	protein-coding gene	gene with protein product	glucosamine-6-phosphate deaminase, oscillin	601798	glucosamine-6-phosphate isomerase	GNPI	NA	9714720, 9438414	Standard	NM_005471	NM_005471	NA	Approved	GNPDA, HLN, GPI, KIAA0060	uc010jgh.3	P46926	OTTHUMG00000129657	ENST00000513454.1:c.417C>T	5.37:g.141384674G>A		NA	D3DQE7	37																																																																																				GNPDA1-013	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000370641.1		-	ENST00000513454.1	Silent	SNP	5 : 141384674 - 141384674 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	136	18
SCN10A	6336	broad.mit.edu	37	3	38753722	38753722	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38753722C>T	ENST00000449082.2	-	22	4018	c.4019G>A	c.(4018-4020)aGc>aAc	p.S1340N		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1340					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCAGAAGAAGCTGCCAGTGGA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	116	117			NA	NA	3		NA											NA				38753722		2203	4300	6503	SO:0001583	missense			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313	6336	6336		Sodium channels, Voltage-gated ion channels / Sodium channels	10582	protein-coding gene	gene with protein product		604427	sodium channel, voltage-gated, type X, alpha polypeptide		NA	9839820, 10198179, 16382098	Standard	NM_006514	NM_006514	NA	Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4019G>A	3.37:g.38753722C>T	ENSP00000390600:p.Ser1340Asn	NA	A6NDQ1	37	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	6.831	0.522538	0.13066	.	.	ENSG00000185313	ENST00000449082	D	0.98493	-4.96	4.37	-6.51	0.01878	Ion transport (1);	1.098550	0.06870	N	0.800618	D	0.86171	0.5869	N	0.00191	-1.88	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	D	0.83562	0.0107	10	0.21540	T	0.41	.	6.5023	0.22176	0.0:0.2823:0.3314:0.3862	.	1340	Q9Y5Y9	SCNAA_HUMAN	N	1340	ENSP00000390600:S1340N	ENSP00000390600:S1340N	S	-	2	0	SCN10A	38728726	0.000000	0.05858	0.000000	0.03702	0.148000	0.21650	-1.875000	0.01634	-1.092000	0.03062	-0.378000	0.06908	AGC	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109745.3		-	ENST00000449082.2	Missense_Mutation	SNP	3 : 38753722 - 38753722 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	600	90
CEP152	22995	broad.mit.edu	37	15	49054658	49054658	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49054658G>T	ENST00000380950.2	-	18	2679	c.2492C>A	c.(2491-2493)gCc>gAc	p.A831D	CEP152_ENST00000399334.3_Missense_Mutation_p.A831D|CEP152_ENST00000325747.5_Missense_Mutation_p.A738D	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	831					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CCCCTTGATGGCTATGTCCTT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	152	156			NA	NA	15		NA											NA				49054658		1846	4087	5933	SO:0001583	missense			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20					22995	22995			29298	protein-coding gene	gene with protein product	asterless	613529	microcephaly, primary autosomal recessive 4	MCPH4	NA	14654843, 21131973	Standard	NM_014985	NM_014985	NA	Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.2492C>A	15.37:g.49054658G>T	ENSP00000370337:p.Ala831Asp	NA	Q17RV1|Q6NTA0	37	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256788	0.39896	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.69806	-0.43;-0.39;-0.36	5.18	4.27	0.50696	.	0.173091	0.50627	D	0.000120	T	0.77903	0.4200	M	0.71581	2.175	0.09310	N	0.999998	D;D;D	0.76494	0.999;0.996;0.996	D;P;P	0.71414	0.973;0.858;0.907	T	0.68655	-0.5351	10	0.48119	T	0.1	-2.873	10.953	0.47341	0.0867:0.0:0.9133:0.0	.	738;831;831	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	D	831;738;831	ENSP00000370337:A831D;ENSP00000321000:A738D;ENSP00000382271:A831D	ENSP00000321000:A738D	A	-	2	0	CEP152	46841950	0.008000	0.16893	0.008000	0.14137	0.349000	0.29174	1.461000	0.35255	1.562000	0.49601	0.650000	0.86243	GCC	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417365.1		-	ENST00000380950.2	Missense_Mutation	SNP	15 : 49054658 - 49054658 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	547	103
MET	4233	broad.mit.edu	37	7	116403139	116403139	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116403139T>C	ENST00000397752.3	+	11	2600	c.2400T>C	c.(2398-2400)tgT>tgC	p.C800C	MET_ENST00000318493.6_Silent_p.C818C	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	MET proto-oncogene, receptor tyrosine kinase	800	IPT/TIG 3.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AGATAATCTGTTGTACCACTC	0.408		NA	Mis		papillary renal, head-neck squamous cell 	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0													101	95	97			NA	NA	7		NA											NA				116403139		1934	4123	6057	SO:0001819	synonymous_variant	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	NA	4233	2.7.10.1		7029	protein-coding gene	gene with protein product	hepatocyte growth factor receptor	164860	met proto-oncogene		NA	1846706, 1611909	Standard		NM_001127500	NA	Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000397752.3:c.2400T>C	7.37:g.116403139T>C		NA	O60366|Q12875|Q9UDX7|Q9UPL8	37	CCDS43636.1																																																																																			MET-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000141947.3		+	ENST00000397752.3	Silent	SNP	7 : 116403139 - 116403139 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	539	107
FMO3	2328	broad.mit.edu	37	1	171083225	171083225	+	Silent	SNP	C	C	T	rs2066536		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171083225C>T	ENST00000367755.4	+	7	1017	c.906C>T	c.(904-906)aaC>aaT	p.N302N	FMO3_ENST00000542847.1_Silent_p.N282N|FMO3_ENST00000392085.2_Silent_p.N302N|FMO3_ENST00000538429.1_Silent_p.N239N	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	302					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TAAAGCCTAACGTGAAGGAAT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	2,4404	4.2+/-10.8	0,2,2201	139	122	128		906,906	-5.5	0.9	1	dbSNP_98	128	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	FMO3	NM_001002294.2,NM_006894.5	,	0,2,6501	TT,TC,CC	NA	0.0,0.0454,0.0154	,	302/533,302/533	171083225	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2328	2328	2.6.1.16		3771	protein-coding gene	gene with protein product		136132			NA	8486388, 9417913	Standard	NM_006894	NM_001002294	NA	Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.906C>T	1.37:g.171083225C>T		NA	B2R816|Q14854|Q8N5N5	37	CCDS1292.1																																																																																			FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086219.1		+	ENST00000367755.4	Silent	SNP	1 : 171083225 - 171083225 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	102
RMND5A	64795	broad.mit.edu	37	2	87000470	87000470	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:87000470G>A	ENST00000283632.4	+	9	1607		c.e9-1		RMND5A_ENST00000472843.1_Splice_Site	NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	NA										kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						TTTGTCTTTAGATTAAAATGT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	106	106			NA	NA	2		NA											NA				87000470		2203	4300	6503	SO:0001630	splice_region_variant			BC012165	CCDS1991.1	2p11.2	2012-07-20			ENSG00000153561	ENSG00000153561	64795	64795			25850	protein-coding gene	gene with protein product	GID complex subunit 2 homolog A				NA	12477932	Standard	NM_022780	NM_022780	NA	Approved	FLJ13910, RMD5, GID2, GID2A	uc002srs.4	Q9H871	OTTHUMG00000130262	ENST00000283632.4:c.1113-1G>A	2.37:g.87000470G>A		NA	D6W5M6|Q6NTF0|Q9H6W5|Q9H9H2	37	CCDS1991.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338521	0.41398	.	.	ENSG00000153561	ENST00000283632	.	.	.	5.28	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1808	0.65574	0.0725:0.0:0.9275:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RMND5A	86853981	1.000000	0.71417	0.981000	0.43875	0.677000	0.39632	9.468000	0.97676	1.377000	0.46286	-0.251000	0.11542	.	RMND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252591.2	Intron	+	ENST00000283632.4	Splice_Site	SNP	2 : 87000470 - 87000470 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	357	55
CRB2	286204	broad.mit.edu	37	9	126132468	126132468	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:126132468G>A	ENST00000373631.3	+	7	1137	c.1136G>A	c.(1135-1137)gGc>gAc	p.G379D	CRB2_ENST00000373629.2_Missense_Mutation_p.G47D|CRB2_ENST00000359999.3_Missense_Mutation_p.G379D	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	379	EGF-like 8; calcium-binding (Potential).					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						ACTGTGGCAGGCTATATCTGC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	52	51			NA	NA	9		NA											NA				126132468		2203	4300	6503	SO:0001583	missense			AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204	286204	286204			18688	protein-coding gene	gene with protein product		609720	crumbs homolog 2 (Drosophila)		NA	14767562	Standard	NM_173689	XM_005251934	NA	Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.1136G>A	9.37:g.126132468G>A	ENSP00000362734:p.Gly379Asp	NA	A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	37	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	G	0.707	-0.788613	0.02884	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	D;D;D	0.92965	-2.27;-2.27;-3.14	4.86	2.63	0.31362	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.209127	0.24215	N	0.040488	D	0.86590	0.5969	M	0.67953	2.075	0.32023	N	0.600576	B;B	0.12013	0.005;0.005	B;B	0.14578	0.005;0.011	T	0.74985	-0.3477	10	0.14656	T	0.56	.	2.3514	0.04284	0.2896:0.3183:0.392:0.0	.	379;379	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	D	379;379;47	ENSP00000353092:G379D;ENSP00000362734:G379D;ENSP00000362732:G47D	ENSP00000353092:G379D	G	+	2	0	CRB2	125172289	0.978000	0.34361	0.979000	0.43373	0.061000	0.15899	0.925000	0.28791	0.978000	0.38470	0.448000	0.29417	GGC	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053990.3		+	ENST00000373631.3	Missense_Mutation	SNP	9 : 126132468 - 126132468 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	321	60
SPAG16	79582	broad.mit.edu	37	2	214354799	214354799	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:214354799A>C	ENST00000331683.5	+	10	1150	c.1055A>C	c.(1054-1056)gAa>gCa	p.E352A	SPAG16_ENST00000374309.3_Missense_Mutation_p.E258A	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	352					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AGACTCCATGAACTTCCAGTG	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	60	58			NA	NA	2		NA											NA				214354799		2202	4297	6499	SO:0001583	missense			AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451	79582	79582		WD repeat domain containing	23225	protein-coding gene	gene with protein product		612173			NA	12391165, 11867345	Standard	NM_024532	NM_024532	NA	Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1055A>C	2.37:g.214354799A>C	ENSP00000332592:p.Glu352Ala	NA	Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	37	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	A	10.65	1.408981	0.25378	.	.	ENSG00000144451	ENST00000331683;ENST00000374309;ENST00000451561	T;T;T	0.62941	-0.01;-0.01;-0.01	5.93	5.93	0.95920	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.207947	0.37095	N	0.002242	T	0.66177	0.2763	M	0.72479	2.2	0.30218	N	0.797086	P;P;B;P	0.51449	0.945;0.631;0.137;0.856	P;B;B;P	0.48454	0.578;0.229;0.115;0.492	T	0.67122	-0.5750	10	0.22706	T	0.39	.	12.7704	0.57417	1.0:0.0:0.0:0.0	.	258;203;292;352	B4DYB5;Q8N0X2-2;Q4G1A2;Q8N0X2	.;.;.;SPG16_HUMAN	A	352;258;38	ENSP00000332592:E352A;ENSP00000363428:E258A;ENSP00000416600:E38A	ENSP00000332592:E352A	E	+	2	0	SPAG16	214063044	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	4.663000	0.61532	2.269000	0.75478	0.454000	0.30748	GAA	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256601.2		+	ENST00000331683.5	Missense_Mutation	SNP	2 : 214354799 - 214354799 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	45
PTPDC1	138639	broad.mit.edu	37	9	96860214	96860214	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96860214G>A	ENST00000288976.3	+	6	1427	c.1360G>A	c.(1360-1362)Gag>Aag	p.E454K	PTPDC1_ENST00000375360.3_Missense_Mutation_p.E402K	NM_001253829.1|NM_152422.4	NP_001240758.1|NP_689635.3	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	402							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						AAAGAGGGCCGAGAACCTCCT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	54	53			NA	NA	9		NA											NA				96860214		2203	4300	6503	SO:0001583	missense			BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079	138639	138639		Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s	30184	protein-coding gene	gene with protein product	protein tyrosine phosphatase PTP9Q22				NA	14702039	Standard	NM_177995, NM_152422	NM_152422	NA	Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000288976.3:c.1360G>A	9.37:g.96860214G>A	ENSP00000288976:p.Glu454Lys	NA	Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	37	CCDS6708.1	.	.	.	.	.	.	.	.	.	.	.	10.38	1.333160	0.24167	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.12984	2.64;2.63	5.52	3.64	0.41730	.	0.187387	0.56097	N	0.000026	T	0.11324	0.0276	L	0.47716	1.5	0.18873	N	0.999986	B;B;B;B	0.19445	0.021;0.036;0.021;0.021	B;B;B;B	0.13407	0.004;0.009;0.004;0.004	T	0.32955	-0.9887	10	0.15066	T	0.55	-12.7677	9.6524	0.39906	0.0779:0.1424:0.7797:0.0	.	456;454;456;402	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	K	402;454	ENSP00000364509:E402K;ENSP00000288976:E454K	ENSP00000288976:E454K	E	+	1	0	PTPDC1	95900035	0.998000	0.40836	0.014000	0.15608	0.642000	0.38348	3.373000	0.52394	0.660000	0.30964	0.655000	0.94253	GAG	PTPDC1-002	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053171.2		+	ENST00000288976.3	Missense_Mutation	SNP	9 : 96860214 - 96860214 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	302	46
NEXN	91624	broad.mit.edu	37	1	78383276	78383276	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78383276T>C	ENST00000334785.7	+	3	237	c.53T>C	c.(52-54)gTc>gCc	p.V18A	NEXN_ENST00000457030.1_Missense_Mutation_p.V18A|NEXN_ENST00000330010.8_Intron|NEXN_ENST00000294624.8_Missense_Mutation_p.V18A	NM_144573.3	NP_653174.3	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	18					regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		TCTAAACCTGTCCCAAAAACC	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	62	64			NA	NA	1		NA											NA				78383276		1818	4083	5901	SO:0001583	missense			AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614	91624	91624		Immunoglobulin superfamily / I-set domain containing	29557	protein-coding gene	gene with protein product		613121			NA	12053183, 8227983	Standard	NM_144573	NM_144573	NA	Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.53T>C	1.37:g.78383276T>C	ENSP00000333938:p.Val18Ala	NA	A0PJ84|Q0D2H2|Q14CC2|Q14CC3|Q16081|Q7Z2X0|Q96DL0|Q9Y2V1	37	CCDS41351.1	.	.	.	.	.	.	.	.	.	.	T	18.23	3.577398	0.65878	.	.	ENSG00000162614	ENST00000457030;ENST00000294624;ENST00000334785;ENST00000440324	T;T;T;T	0.72505	-0.25;-0.66;-0.25;-0.55	5.51	5.51	0.81932	.	0.620166	0.13881	N	0.356346	T	0.56366	0.1980	L	0.54323	1.7	0.34155	D	0.668015	B	0.28971	0.229	B	0.25405	0.06	T	0.63686	-0.6581	10	0.87932	D	0	-0.3105	15.9178	0.79535	0.0:0.0:0.0:1.0	.	18	Q0ZGT2	NEXN_HUMAN	A	18	ENSP00000388048:V18A;ENSP00000294624:V18A;ENSP00000333938:V18A;ENSP00000411902:V18A	ENSP00000294624:V18A	V	+	2	0	NEXN	78155864	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.525000	0.81892	2.216000	0.71823	0.533000	0.62120	GTC	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097549.1		+	ENST00000334785.7	Missense_Mutation	SNP	1 : 78383276 - 78383276 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	52
TEK	7010	broad.mit.edu	37	9	27197484	27197484	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:27197484C>T	ENST00000519097.1	+	10	1805	c.1355C>T	c.(1354-1356)tCg>tTg	p.S452L	TEK_ENST00000380036.4_Missense_Mutation_p.S599L|TEK_ENST00000406359.4_Missense_Mutation_p.S556L			Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	599	Fibronectin type-III 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		AACTTGACTTCGGTGCTACTT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	92	96			NA	NA	9		NA											NA				27197484		2203	4300	6503	SO:0001583	missense			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156	7010	7010		CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	11724	protein-coding gene	gene with protein product		600221	venous malformations, multiple cutaneous and mucosal	VMCM	NA	1312667, 7833915	Standard		XM_005251561	NA	Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000519097.1:c.1355C>T	9.37:g.27197484C>T	ENSP00000430686:p.Ser452Leu	NA	A8K6W0|D3DRK5|Q5TCU2	37		.	.	.	.	.	.	.	.	.	.	C	13.92	2.381519	0.42207	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359;ENST00000519080	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	5.54	3.52	0.40303	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.168921	0.28420	N	0.015417	T	0.34193	0.0889	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.34313	0.448;0.008;0.197;0.013	B;B;B;B	0.25759	0.063;0.005;0.027;0.005	T	0.30995	-0.9959	10	0.48119	T	0.1	.	10.2421	0.43319	0.0:0.6052:0.3212:0.0736	.	452;632;556;599	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	L	452;599;556;409	ENSP00000430686:S452L;ENSP00000369375:S599L;ENSP00000383977:S556L;ENSP00000428337:S409L	ENSP00000369375:S599L	S	+	2	0	TEK	27187484	0.037000	0.19845	0.818000	0.32626	0.966000	0.64601	1.174000	0.31932	2.619000	0.88677	0.655000	0.94253	TCG	TEK-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000379465.1		+	ENST00000519097.1	Missense_Mutation	SNP	9 : 27197484 - 27197484 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	516	91
CPNE5	57699	broad.mit.edu	37	6	36742762	36742762	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36742762G>T	ENST00000244751.2	-	10	1337	c.713C>A	c.(712-714)gCc>gAc	p.A238D		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	238	C2 2.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GTTGCAGAGGGCTCTCACGGG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													191	155	167			NA	NA	6		NA											NA				36742762		2203	4300	6503	SO:0001583	missense			H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772	57699	57699			2318	protein-coding gene	gene with protein product		604209			NA	9430674	Standard	NM_020939	NM_020939	NA	Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.713C>A	6.37:g.36742762G>T	ENSP00000244751:p.Ala238Asp	NA		37	CCDS4825.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276253	0.40294	.	.	ENSG00000124772	ENST00000244751	T	0.38240	1.15	5.28	4.4	0.53042	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.107348	0.64402	D	0.000007	T	0.12860	0.0312	N	0.10685	0.025	0.80722	D	1	B	0.24576	0.106	B	0.35899	0.213	T	0.11446	-1.0587	10	0.62326	D	0.03	.	12.2525	0.54605	0.0:0.3298:0.6702:0.0	.	238	Q9HCH3	CPNE5_HUMAN	D	238	ENSP00000244751:A238D	ENSP00000244751:A238D	A	-	2	0	CPNE5	36850740	1.000000	0.71417	0.994000	0.49952	0.302000	0.27658	9.282000	0.95840	1.187000	0.43000	0.448000	0.29417	GCC	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040351.1		-	ENST00000244751.2	Missense_Mutation	SNP	6 : 36742762 - 36742762 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	205	45
ALG9	79796	broad.mit.edu	37	11	111711410	111711410	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111711410G>A	ENST00000398006.2	-	10	1536	c.628C>T	c.(628-630)Ctc>Ttc	p.L210F	ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000531154.1_Missense_Mutation_p.L210F|ALG9_ENST00000524880.1_3'UTR	NM_001077690.1|NM_001077691.1|NM_001077692.1	NP_001071158.1|NP_001071159.1|NP_001071160.1	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	381					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		GCGCCACAGAGACATATAAGT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	107	105			NA	NA	11		NA											NA				111711410		1903	4119	6022	SO:0001583	missense				CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	79796	79796	2.4.1.259, 2.4.1.261	Dolichyl D-mannosyl phosphate dependent mannosyltransferases	15672	protein-coding gene	gene with protein product	dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase, dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase, dol-P-Man dependent alpha-1,2-mannosyltransferase	606941	disrupted in bipolar affective disorder 1, asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase), asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase), asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)	DIBD1	NA	12030331, 15148656	Standard	NM_024740	NM_024740	NA	Approved		uc021qql.1	Q9H6U8	OTTHUMG00000166819	ENST00000398006.2:c.628C>T	11.37:g.111711410G>A	ENSP00000381090:p.Leu210Phe	NA	Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	37	CCDS53709.1	.	.	.	.	.	.	.	.	.	.	G	32	5.118509	0.94385	.	.	ENSG00000086848	ENST00000531154;ENST00000398006;ENST00000428306	T;T	0.69926	-0.44;-0.44	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.82499	0.5050	M	0.75085	2.285	0.80722	D	1	D;D;D;P	0.89917	1.0;0.981;1.0;0.937	D;D;D;P	0.87578	0.998;0.948;0.994;0.896	T	0.82975	-0.0190	10	0.56958	D	0.05	-18.0339	19.5951	0.95533	0.0:0.0:1.0:0.0	.	210;381;614;381	B4DQI3;Q9H6U8-3;B4DYW0;Q9H6U8	.;.;.;ALG9_HUMAN	F	210;210;614	ENSP00000435517:L210F;ENSP00000381090:L210F	ENSP00000381090:L210F	L	-	1	0	ALG9	111216620	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.813000	0.99286	2.705000	0.92388	0.591000	0.81541	CTC	ALG9-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391486.1		-	ENST00000398006.2	Missense_Mutation	SNP	11 : 111711410 - 111711410 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	541	107
C16orf72	29035	broad.mit.edu	37	16	9196949	9196949	+	Missense_Mutation	SNP	G	G	A	rs146827336	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:9196949G>A	ENST00000327827.7	+	3	813	c.416G>A	c.(415-417)cGt>cAt	p.R139H		NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	139										endometrium(4)|large_intestine(2)|lung(2)	8						AGAACTATTCGTCGAGAAGAT	0.453		NA											G	1	5e-04	0.002	NA	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	4e-04	0.8551	EXOME	NA	NA	8e-04	SNP								NA				0								G	HIS/ARG	9,4385	15.5+/-35.6	0,9,2188	100	92	95		416	5.8	1	16	dbSNP_134	95	0,8600		0,0,4300	yes	missense	C16orf72	NM_014117.2	29	0,9,6488	AA,AG,GG	NA	0.0,0.2048,0.0693	probably-damaging	139/276	9196949	9,12985	2197	4300	6497	SO:0001583	missense			AK123266	CCDS10538.1	16p13.2	2012-11-19			ENSG00000182831	ENSG00000182831	29035	29035			30103	protein-coding gene	gene with protein product					NA	8889548	Standard	NM_014117	NM_014117	NA	Approved	FLJ41272, PRO0149	uc002czm.3	Q14CZ0	OTTHUMG00000178147	ENST00000327827.7:c.416G>A	16.37:g.9196949G>A	ENSP00000331720:p.Arg139His	NA		37	CCDS10538.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	34	5.379836	0.95945	0.002048	0.0	ENSG00000182831	ENST00000327827	T	0.54479	0.57	5.84	5.84	0.93424	.	0.052554	0.85682	D	0.000000	T	0.74711	0.3752	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.75479	-0.3303	10	0.66056	D	0.02	-4.3905	20.1294	0.97995	0.0:0.0:1.0:0.0	.	139	Q14CZ0	CP072_HUMAN	H	139	ENSP00000331720:R139H	ENSP00000331720:R139H	R	+	2	0	C16orf72	9104450	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.751000	0.98889	2.758000	0.94735	0.591000	0.81541	CGT	C16orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000440760.2		+	ENST00000327827.7	Missense_Mutation	SNP	16 : 9196949 - 9196949 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	88
ARHGAP24	83478	broad.mit.edu	37	4	86863294	86863294	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:86863294T>C	ENST00000395184.1	+	5	933	c.467T>C	c.(466-468)gTg>gCg	p.V156A	ARHGAP24_ENST00000264343.4_Missense_Mutation_p.V63A|ARHGAP24_ENST00000503995.1_Missense_Mutation_p.V156A|ARHGAP24_ENST00000395183.2_Missense_Mutation_p.V61A	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	156	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CCGATGTTGGTGGAGCAGTGC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	85	86			NA	NA	4		NA											NA				86863294		2203	4300	6503	SO:0001583	missense			AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639	83478	83478		Rho GTPase activating proteins, Pleckstrin homology (PH) domain containing	25361	protein-coding gene	gene with protein product		610586			NA	11230166, 15254788	Standard	NM_031305	NM_001042669	NA	Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.467T>C	4.37:g.86863294T>C	ENSP00000378611:p.Val156Ala	NA	Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	37	CCDS34025.1	.	.	.	.	.	.	.	.	.	.	T	33	5.205174	0.95033	.	.	ENSG00000138639	ENST00000395184;ENST00000503995;ENST00000512201;ENST00000395183;ENST00000509300;ENST00000514229;ENST00000264343	T;T;T;T;T;T;T	0.52295	1.77;1.77;0.67;1.77;1.77;1.77;1.77	5.98	5.98	0.97165	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.78013	0.4217	H	0.94462	3.54	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.997;0.996;0.999	D	0.84349	0.0531	10	0.72032	D	0.01	.	16.4731	0.84124	0.0:0.0:0.0:1.0	.	61;63;156;156	Q8N264-3;Q8N264-2;Q8N264;Q8N264-4	.;.;RHG24_HUMAN;.	A	156;156;61;61;30;71;63	ENSP00000378611:V156A;ENSP00000423206:V156A;ENSP00000426105:V61A;ENSP00000378610:V61A;ENSP00000424256:V30A;ENSP00000425589:V71A;ENSP00000264343:V63A	ENSP00000264343:V63A	V	+	2	0	ARHGAP24	87082318	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.970000	0.88000	2.293000	0.77203	0.528000	0.53228	GTG	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252815.2		+	ENST00000395184.1	Missense_Mutation	SNP	4 : 86863294 - 86863294 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	298	52
SLC11A2	4891	broad.mit.edu	37	12	51390647	51390647	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51390647C>T	ENST00000262052.5	-	9	896	c.784G>A	c.(784-786)Gct>Act	p.A262T	SLC11A2_ENST00000394904.3_Missense_Mutation_p.A291T|SLC11A2_ENST00000547198.1_Missense_Mutation_p.A262T|SLC11A2_ENST00000262051.7_Missense_Mutation_p.A262T|SLC11A2_ENST00000541174.2_Missense_Mutation_p.A262T|SLC11A2_ENST00000547688.1_Missense_Mutation_p.A291T|SLC11A2_ENST00000545993.2_Missense_Mutation_p.A258T|SLC11A2_ENST00000546743.1_Missense_Mutation_p.A183T	NM_000617.2|NM_001174128.1	NP_000608.1|NP_001167599.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	262					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						ATGATGACAGCTCCCACGATG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													227	147	174			NA	NA	12		NA											NA				51390647		2203	4300	6503	SO:0001583	missense			AB015355	CCDS8805.1, CCDS53791.1, CCDS53792.1, CCDS53793.1	12q13	2013-07-18	2013-07-18		ENSG00000110911	ENSG00000110911	4891	4891		Solute carriers	10908	protein-coding gene	gene with protein product		600523		NRAMP2	NA	7613023	Standard		NM_000617	NA	Approved	DCT1, DMT1	uc001rxk.2	P49281	OTTHUMG00000169493	ENST00000262052.5:c.784G>A	12.37:g.51390647C>T	ENSP00000262052:p.Ala262Thr	NA	B3KT08|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35	37	CCDS8805.1	.	.	.	.	.	.	.	.	.	.	C	36	5.819946	0.96989	.	.	ENSG00000110911	ENST00000262051;ENST00000547198;ENST00000262052;ENST00000394904;ENST00000547688;ENST00000541174;ENST00000545993;ENST00000546743	T;T;T;T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.91841	0.7418	H	0.99425	4.56	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.998;0.998;0.998;0.999;0.999	D	0.95025	0.8164	10	0.87932	D	0	-14.8869	18.8085	0.92048	0.0:1.0:0.0:0.0	.	225;258;291;262;111;262	B7Z9M2;F5H741;P49281-3;P49281-2;B3KY44;P49281	.;.;.;.;.;NRAM2_HUMAN	T	262;262;262;291;291;262;258;183	ENSP00000262051:A262T;ENSP00000446769:A262T;ENSP00000262052:A262T;ENSP00000378364:A291T;ENSP00000449200:A291T;ENSP00000444542:A262T;ENSP00000442810:A258T;ENSP00000446914:A183T	ENSP00000262051:A262T	A	-	1	0	SLC11A2	49676914	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.492000	0.81482	2.734000	0.93682	0.655000	0.94253	GCT	SLC11A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404386.1		-	ENST00000262052.5	Missense_Mutation	SNP	12 : 51390647 - 51390647 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	56
MDP1	145553	broad.mit.edu	37	14	24683543	24683543	+	Missense_Mutation	SNP	G	G	A	rs2295317	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24683543G>A	ENST00000288087.7	-	5	487	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	MDP1_ENST00000532557.1_Intron|MDP1_ENST00000396833.2_Intron|AL136419.6_ENST00000565988.1_RNA|NEDD8-MDP1_ENST00000534348.1_Missense_Mutation_p.R143W	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2			magnesium-dependent phosphatase 1	NA										breast(2)|large_intestine(2)|lung(3)	7						ACAATATTCCGCCTCTCATCA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	144	137	139		,376,427,376	4.1	1	14	dbSNP_100	139	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense,missense,missense	MDP1,NEDD8-MDP1	NM_001199821.1,NM_001199822.1,NM_001199823.1,NM_138476.3	,101,101,101	0,2,6501	AA,AG,GG	NA	0.0116,0.0227,0.0154	,probably-damaging,probably-damaging,probably-damaging	,126/138,143/194,126/177	24683543	2,13004	2203	4300	6503	SO:0001583	missense			BC046912	CCDS9620.1, CCDS55908.1	14q12	2009-07-09			ENSG00000213920	ENSG00000213920	145553	145553			28781	protein-coding gene	gene with protein product	fructosamine-6-phosphatase				NA	10889041, 16670083	Standard	NM_138476	NM_138476	NA	Approved	MGC5987, FN6Pase		Q86V88	OTTHUMG00000133477	ENST00000288087.7:c.376C>T	14.37:g.24683543G>A	ENSP00000288087:p.Arg126Trp	NA		37	CCDS9620.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149115	0.78001	2.27E-4	1.16E-4	ENSG00000213920;ENSG00000255526	ENST00000288087;ENST00000534348	D;D	0.97404	-4.37;-4.37	5.0	4.1	0.47936	HAD-like domain (2);HAD-superfamily phosphatase, subfamily IIIC (1);	0.000000	0.27991	U	0.017029	D	0.97914	0.9314	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97380	0.9982	10	0.41790	T	0.15	-13.1301	10.6353	0.45560	0.0:0.0:0.8088:0.1912	.	126	Q86V88	MGDP1_HUMAN	W	126;143	ENSP00000288087:R126W;ENSP00000431482:R143W	ENSP00000288087:R126W	R	-	1	2	MDP1;NEDD8-MDP1	23753383	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.475000	0.45162	1.323000	0.45263	0.655000	0.94253	CGG	MDP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257367.1		-	ENST00000288087.7	Missense_Mutation	SNP	14 : 24683543 - 24683543 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	778	133
ADAMTS3	9508	broad.mit.edu	37	4	73188804	73188804	+	Missense_Mutation	SNP	A	A	C	rs61757480		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73188804A>C	ENST00000286657.4	-	6	908	c.872T>G	c.(871-873)aTt>aGt	p.I291S	RP11-373J21.1_ENST00000503918.1_RNA	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	291	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATCATGGTAAATTTCATTCAC	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(168;1941 2048 2918 13048 43078)							NA				0													142	143	143			NA	NA	4		NA											NA				73188804		2203	4300	6503	SO:0001583	missense			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	9508	9508	3.4.24.-	ADAM metallopeptidases with thrombospondin type 1 motif	219	protein-coding gene	gene with protein product		605011	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3		NA	10094461	Standard		NM_014243	NA	Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.872T>G	4.37:g.73188804A>C	ENSP00000286657:p.Ile291Ser	NA	A1L3U9|Q9BXZ8	37	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.629833	0.87660	.	.	ENSG00000156140	ENST00000286657	T	0.66995	-0.24	6.06	6.06	0.98353	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.84942	0.5584	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87671	0.2541	10	0.87932	D	0	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	291	O15072	ATS3_HUMAN	S	291	ENSP00000286657:I291S	ENSP00000286657:I291S	I	-	2	0	ADAMTS3	73407668	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.699000	0.91316	2.324000	0.78689	0.533000	0.62120	ATT	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252164.2		-	ENST00000286657.4	Missense_Mutation	SNP	4 : 73188804 - 73188804 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	804	157
CCDC88C	440193	broad.mit.edu	37	14	91804434	91804434	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91804434G>A	ENST00000389857.6	-	10	1051	c.965C>T	c.(964-966)gCg>gTg	p.A322V		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	322					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CACGCGGTTCGCCTTCTCCCG	0.622		NA											G	1	5e-04	NA	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	8e-04	SNP								NA				0													43	48	47			NA	NA	14		NA											NA				91804434		2111	4231	6342	SO:0001583	missense				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133	440193	440193			19967	protein-coding gene	gene with protein product	Dvl-associating protein with a high frequency of leucine residues, spinocerebellar ataxia 40	611204	KIAA1509	KIAA1509	NA	17185515, 25062847	Standard	XM_029353	NM_001080414	NA	Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.965C>T	14.37:g.91804434G>A	ENSP00000374507:p.Ala322Val	NA	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	37	CCDS45151.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	36	5.631770	0.96682	.	.	ENSG00000015133	ENST00000389857	T	0.18502	2.21	5.54	5.54	0.83059	.	0.000000	0.48286	U	0.000193	T	0.40272	0.1110	M	0.75447	2.3	0.80722	D	1	D	0.56746	0.977	P	0.56960	0.81	T	0.25537	-1.0129	10	0.87932	D	0	-26.7377	19.4767	0.94992	0.0:0.0:1.0:0.0	.	322	Q9P219	DAPLE_HUMAN	V	322	ENSP00000374507:A322V	ENSP00000374507:A322V	A	-	2	0	CCDC88C	90874187	1.000000	0.71417	0.972000	0.41901	0.971000	0.66376	7.991000	0.88244	2.623000	0.88846	0.561000	0.74099	GCG	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411650.1		-	ENST00000389857.6	Missense_Mutation	SNP	14 : 91804434 - 91804434 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	58
IDO2	169355	broad.mit.edu	37	8	39873093	39873093	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39873093T>C	ENST00000389060.4	+	10	1196	c.1196T>C	c.(1195-1197)tTg>tCg	p.L399S	IDO2_ENST00000502986.2_Missense_Mutation_p.L412S|IDO2_ENST00000343295.4_3'UTR			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	399					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						GATAAGACCTTGGAGTCAATC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	99	100			NA	NA	8		NA											NA				39873093		1971	4152	6123	SO:0001583	missense			AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676	169355	169355			27269	protein-coding gene	gene with protein product		612129	indoleamine-pyrrole 2,3 dioxygenase-like 1	INDOL1	NA		Standard	NM_194294	NM_194294	NA	Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.1196T>C	8.37:g.39873093T>C	ENSP00000426447:p.Leu399Ser	NA	A4UD41	37		.	.	.	.	.	.	.	.	.	.	T	7.742	0.701517	0.15172	.	.	ENSG00000188676	ENST00000502986;ENST00000389060	T;T	0.46819	0.86;0.86	5.93	1.95	0.26073	.	0.356037	0.26700	N	0.022959	T	0.28764	0.0713	L	0.36672	1.1	0.09310	N	1	B;B	0.16802	0.019;0.013	B;B	0.12837	0.005;0.008	T	0.09487	-1.0672	9	.	.	.	.	1.7147	0.02899	0.2668:0.0793:0.1567:0.4972	.	412;399	F5H5G0;Q6ZQW0	.;I23O2_HUMAN	S	412;399	ENSP00000443432:L412S;ENSP00000426447:L399S	.	L	+	2	0	IDO2	39992250	0.009000	0.17119	0.005000	0.12908	0.014000	0.08584	0.496000	0.22499	0.455000	0.26910	0.533000	0.62120	TTG	IDO2-004	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000372742.1		+	ENST00000389060.4	Missense_Mutation	SNP	8 : 39873093 - 39873093 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	428	79
COL4A6	1288	broad.mit.edu	37	X	107434631	107434631	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107434631C>A	ENST00000334504.7	-	19	1546	c.1313G>T	c.(1312-1314)gGc>gTc	p.G438V	COL4A6_ENST00000545689.1_Missense_Mutation_p.G438V|COL4A6_ENST00000372216.4_Missense_Mutation_p.G439V|COL4A6_ENST00000394872.2_Missense_Mutation_p.G439V|COL4A6_ENST00000538570.1_Missense_Mutation_p.G438V	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	439	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						ACTAGGTGGGCCTGGTGGACC	0.542		NA							Alport syndrome with Diffuse Leiomyomatosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(87;1895 1945 2589 7165)							NA				0													159	141	147			NA	NA	X		NA											NA				107434631		2203	4300	6503	SO:0001583	missense	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565	1288	1288		Collagens	2208	protein-coding gene	gene with protein product		303631			NA	8356449	Standard		NM_033641	NA	Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000334504.7:c.1313G>T	X.37:g.107434631C>A	ENSP00000334733:p.Gly438Val	NA	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	37	CCDS14542.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.065035	0.36470	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.99186	-5.53;-5.53;-5.53;-5.53;-5.53	5.35	5.35	0.76521	.	0.000000	0.43260	D	0.000600	D	0.99432	0.9799	M	0.91768	3.24	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.98693	1.0697	10	0.72032	D	0.01	.	17.3384	0.87288	0.0:1.0:0.0:0.0	.	438;438;439;438	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	V	439;438;439;438;438;438	ENSP00000361290:G439V;ENSP00000334733:G438V;ENSP00000378340:G439V;ENSP00000443707:G438V;ENSP00000445236:G438V	ENSP00000334733:G438V	G	-	2	0	COL4A6	107321287	1.000000	0.71417	0.557000	0.28306	0.877000	0.50540	5.212000	0.65225	2.562000	0.86427	0.600000	0.82982	GGC	COL4A6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057876.2		-	ENST00000334504.7	Missense_Mutation	SNP	X : 107434631 - 107434631 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	740	160
TMEM182	130827	broad.mit.edu	37	2	103414328	103414328	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103414328G>A	ENST00000412401.2	+	4	543	c.338G>A	c.(337-339)cGt>cAt	p.R113H	TMEM182_ENST00000409528.1_Missense_Mutation_p.R17H|TMEM182_ENST00000486293.1_3'UTR|TMEM182_ENST00000409173.1_Missense_Mutation_p.R70H	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	113						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						CCAGTTTACCGTGGTTTCTGG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	88	92	91		338	5.2	1	2		91	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM182	NM_144632.3	29	0,3,6500	AA,AG,GG	NA	0.0116,0.0454,0.0231	probably-damaging	113/230	103414328	3,13003	2203	4300	6503	SO:0001583	missense			AK054856	CCDS2064.1	2q12.1	2009-08-25			ENSG00000170417	ENSG00000170417	130827	130827			26391	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_144632	NM_144632	NA	Approved	FLJ30294	uc010fjb.3	Q6ZP80	OTTHUMG00000130779	ENST00000412401.2:c.338G>A	2.37:g.103414328G>A	ENSP00000394178:p.Arg113His	NA	C9JML7|Q3B7B8|Q53TT9|Q6GMU0|Q8WW45|Q96NR4	37	CCDS2064.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.032092	0.93575	4.54E-4	1.16E-4	ENSG00000170417	ENST00000454536;ENST00000409528;ENST00000409173;ENST00000412401	T;T;T	0.69040	-0.37;-0.37;-0.37	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.81978	0.4937	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.83688	0.0175	10	0.87932	D	0	-17.6232	19.1731	0.93588	0.0:0.0:1.0:0.0	.	113;70	Q6ZP80;B8ZZ71	TM182_HUMAN;.	H	70;17;70;113	ENSP00000387258:R17H;ENSP00000387184:R70H;ENSP00000394178:R113H	ENSP00000387184:R70H	R	+	2	0	TMEM182	102780760	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	8.939000	0.92951	2.613000	0.88420	0.655000	0.94253	CGT	TMEM182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253293.1		+	ENST00000412401.2	Missense_Mutation	SNP	2 : 103414328 - 103414328 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	567	151
ZNF205	7755	broad.mit.edu	37	16	3170128	3170128	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3170128G>A	ENST00000382192.3	+	7	1672	c.1467G>A	c.(1465-1467)tcG>tcA	p.S489S	RP11-473M20.14_ENST00000575139.1_RNA|RP11-473M20.14_ENST00000576490.1_RNA|ZNF205_ENST00000219091.4_Silent_p.S489S	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						GCCACAGCTCGCACCTCACCG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	82	86			NA	NA	16		NA											NA				3170128		2197	4300	6497	SO:0001819	synonymous_variant			AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386	7755	7755		Zinc fingers, C2H2-type, -	12996	protein-coding gene	gene with protein product		603436		ZNF210	NA	9787081	Standard	NM_003456	NM_003456	NA	Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.1467G>A	16.37:g.3170128G>A		NA	A8MZK0|D3DUB4|Q9BU95	37	CCDS10494.2																																																																																			ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000309057.1		+	ENST00000382192.3	Silent	SNP	16 : 3170128 - 3170128 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	701	132
SMPD4	55627	broad.mit.edu	37	2	130925111	130925111	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130925111T>G	ENST00000409031.1	-	9	1977	c.829A>C	c.(829-831)Aag>Cag	p.K277Q	SMPD4_ENST00000473720.1_5'UTR|SMPD4_ENST00000431183.2_Missense_Mutation_p.K204Q|SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000339679.7_Missense_Mutation_p.K164Q|SMPD4_ENST00000443958.2_5'UTR|SMPD4_ENST00000452225.2_5'UTR|SMPD4_ENST00000426662.2_5'UTR|SMPD4_ENST00000351288.6_Missense_Mutation_p.K277Q	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	238					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	ATGTGTCGCTTTAGGAGGCTA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	82	86			NA	NA	2		NA											NA				130925111		2203	4300	6503	SO:0001583	missense			AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699	55627	55627			32949	protein-coding gene	gene with protein product		610457			NA	16517606	Standard	NM_017751	NM_001171083	NA	Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.829A>C	2.37:g.130925111T>G	ENSP00000386531:p.Lys277Gln	NA	Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	37	CCDS42751.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	21.6|21.6|21.6	4.170904|4.170904|4.170904	0.78452|0.78452|0.78452	.|.|.	.|.|.	ENSG00000136699|ENSG00000136699|ENSG00000136699	ENST00000351288;ENST00000409031;ENST00000431183;ENST00000339679;ENST00000451542|ENST00000430682|ENST00000439886	.|.|.	.|.|.	.|.|.	3.87|3.87|3.87	3.87|3.87|3.87	0.44632|0.44632|0.44632	.|.|.	0.000000|0.000000|.	0.85682|0.85682|.	D|D|.	0.000000|0.000000|.	T|T|.	0.70859|0.70859|.	0.3272|0.3272|.	M|M|M	0.75447|0.75447|0.75447	2.3|2.3|2.3	0.80722|0.80722|0.80722	D|D|D	1|1|1	B;B;B;P;D|.|.	0.63046|.|.	0.066;0.138;0.026;0.492;0.992|.|.	B;B;B;B;P|.|.	0.59171|.|.	0.044;0.073;0.038;0.245;0.853|.|.	T|T|.	0.71076|0.71076|.	-0.4697|-0.4697|.	9|6|.	0.48119|.|.	T|.|.	0.1|.|.	.|.|.	10.6337|10.6337|10.6337	0.45551|0.45551|0.45551	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	204;164;238;238;277|.|.	E7ESA2;B4E0T5;Q9NXE4-2;Q9NXE4;B1PBA3|.|.	.;.;.;NSMA3_HUMAN;.|.|.	Q|T|Y	277;277;204;164;54|66|105	.|.|.	ENSP00000339721:K164Q|.|.	K|K|X	-|-|-	1|2|3	0|0|2	SMPD4|SMPD4|SMPD4	130641581|130641581|130641581	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.980000|0.980000|0.980000	0.70556|0.70556|0.70556	7.375000|7.375000|7.375000	0.79646|0.79646|0.79646	1.378000|1.378000|1.378000	0.46305|0.46305|0.46305	0.379000|0.379000|0.379000	0.24179|0.24179|0.24179	AAG|AAA|TAA	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254516.3		-	ENST00000409031.1	Missense_Mutation	SNP	2 : 130925111 - 130925111 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	36
XXYLT1	152002	broad.mit.edu	37	3	194790697	194790697	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:194790697A>C	ENST00000460582.1	-	0	370				XXYLT1_ENST00000310380.6_Missense_Mutation_p.L310R|XXYLT1_ENST00000355729.4_Missense_Mutation_p.L107R|XXYLT1_ENST00000429994.1_Missense_Mutation_p.L164R|XXYLT1_ENST00000356740.5_Missense_Mutation_p.L104R|XXYLT1_ENST00000437101.1_Missense_Mutation_p.L107R			Q8NBI6	CC021_HUMAN	xyloside xylosyltransferase 1	NA						integral to membrane	transferase activity, transferring glycosyl groups				NA						CGCCGGCTCCAGCAGGCGGCT	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	38	36			NA	NA	3		NA											NA				194790697		1944	4144	6088	SO:0001623	5_prime_UTR_variant			AK075551	CCDS43188.1	3q29	2013-02-22	2011-10-19	2011-10-19	ENSG00000173950	ENSG00000173950	152002	152002		Glycosyltransferase family 8 domain containing	26639	protein-coding gene	gene with protein product		614552	chromosome 3 open reading frame 21	C3orf21	NA	22117070	Standard	NM_152531	NM_152531	NA	Approved	FLJ35155	uc003fum.4	Q8NBI6	OTTHUMG00000155915	ENST00000460582.1:c.-376T>G	3.37:g.194790697A>C		NA	D3DNW5|Q8NAL3|Q8WV03|Q96ME0	37		.	.	.	.	.	.	.	.	.	.	A	28.6	4.933216	0.92458	.	.	ENSG00000173950	ENST00000310380;ENST00000437101;ENST00000355729;ENST00000429994;ENST00000356740	T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000001	T	0.52175	0.1718	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.91635	0.995;0.949;0.999	T	0.50127	-0.8864	10	0.22706	T	0.39	-0.5896	15.4921	0.75615	1.0:0.0:0.0:0.0	.	310;107;104	Q8NBI6;Q8NBI6-2;Q8NBI6-3	XXLT1_HUMAN;.;.	R	310;107;107;164;104	ENSP00000309640:L310R;ENSP00000409865:L107R;ENSP00000347967:L107R;ENSP00000399422:L164R;ENSP00000349179:L104R	ENSP00000309640:L310R	L	-	2	0	C3orf21	196271986	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.273000	0.95719	2.257000	0.74773	0.460000	0.39030	CTG	XXYLT1-012	PUTATIVE	mRNA_end_NF|basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000342301.1		-	ENST00000460582.1	5'UTR	SNP	3 : 194790697 - 194790697 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	333	72
KIF15	56992	broad.mit.edu	37	3	44867676	44867676	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44867676C>A	ENST00000326047.4	+	21	2844	c.2695C>A	c.(2695-2697)Ctg>Atg	p.L899M	KIF15_ENST00000425755.1_Missense_Mutation_p.L534M	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	899					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GAAATCTGATCTGAATGTATG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	134	129			NA	NA	3		NA											NA				44867676		2202	4300	6502	SO:0001583	missense			AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808	56992	56992		Kinesins	17273	protein-coding gene	gene with protein product			kinesin-like 7	KNSL7	NA	10878014	Standard		NM_020242	NA	Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.2695C>A	3.37:g.44867676C>A	ENSP00000324020:p.Leu899Met	NA	Q17RV9|Q69YL6|Q96JX7|Q9H280	37	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983609	0.53827	.	.	ENSG00000163808	ENST00000326047;ENST00000481166;ENST00000396031;ENST00000425755	T;T;T	0.59906	0.23;0.23;0.23	5.72	4.85	0.62838	.	0.000000	0.40908	D	0.000998	T	0.70859	0.3272	M	0.64997	1.995	0.80722	D	1	D	0.71674	0.998	D	0.64595	0.927	T	0.73493	-0.3965	10	0.59425	D	0.04	.	13.7611	0.62966	0.0:0.9248:0.0:0.0752	.	899	Q9NS87	KIF15_HUMAN	M	899;671;898;534	ENSP00000324020:L899M;ENSP00000425499:L671M;ENSP00000389982:L534M	ENSP00000324020:L899M	L	+	1	2	KIF15	44842680	0.712000	0.27916	0.985000	0.45067	0.522000	0.34438	1.053000	0.30442	1.431000	0.47355	0.591000	0.81541	CTG	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343831.2		+	ENST00000326047.4	Missense_Mutation	SNP	3 : 44867676 - 44867676 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	624	21
WIPF2	147179	broad.mit.edu	37	17	38430111	38430111	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38430111G>A	ENST00000323571.4	+	6	1280	c.1040G>A	c.(1039-1041)cGa>cAa	p.R347Q	WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000394103.3_Missense_Mutation_p.R89Q|WIPF2_ENST00000536600.1_Missense_Mutation_p.R89Q|WIPF2_ENST00000583130.1_Missense_Mutation_p.R347Q|WIPF2_ENST00000585043.1_Missense_Mutation_p.R347Q	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	347						cytoplasm|cytoskeleton	actin binding	p.R347Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CCACCATACCGAATGCATGGG	0.612		NA								HNSCC(43;0.11)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	prostate(1)											67	62	64			NA	NA	17		NA											NA				38430111		2203	4300	6503	SO:0001583	missense			BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475	147179	147179			30923	protein-coding gene	gene with protein product		609692			NA	12213210, 11829459	Standard	NM_133264	XM_005257083	NA	Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.1040G>A	17.37:g.38430111G>A	ENSP00000320924:p.Arg347Gln	NA	A8K0L3|Q658J8|Q71RE1|Q8TE44	37	CCDS11364.1	.	.	.	.	.	.	.	.	.	.	G	36	5.627069	0.96671	.	.	ENSG00000171475	ENST00000323571;ENST00000394103;ENST00000536600	T;T;T	0.48836	1.27;0.8;0.8	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.57272	0.2042	L	0.59436	1.845	0.58432	D	0.999998	D;D	0.69078	0.962;0.997	B;P	0.52598	0.194;0.703	T	0.52859	-0.8519	10	0.30854	T	0.27	-6.6071	18.9492	0.92635	0.0:0.0:1.0:0.0	.	89;347	A8MWR2;Q8TF74	.;WIPF2_HUMAN	Q	347;89;89	ENSP00000320924:R347Q;ENSP00000377663:R89Q;ENSP00000439175:R89Q	ENSP00000320924:R347Q	R	+	2	0	WIPF2	35683637	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.554000	0.67294	2.646000	0.89796	0.561000	0.74099	CGA	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257157.2		+	ENST00000323571.4	Missense_Mutation	SNP	17 : 38430111 - 38430111 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	470	25
ZNF546	339327	broad.mit.edu	37	19	40504294	40504294	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40504294C>T	ENST00000347077.4	+	3	277	c.61C>T	c.(61-63)Cct>Tct	p.P21S	ZNF546_ENST00000600094.1_Intron|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCAAATCATTCCTCTGCACTC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	93	94			NA	NA	19		NA											NA				40504294		2203	4300	6503	SO:0001583	missense			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187	339327	339327		Zinc fingers, C2H2-type, -	28671	protein-coding gene	gene with protein product				ZNF49	NA	12477932	Standard	NM_178544	XM_005258853	NA	Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.61C>T	19.37:g.40504294C>T	ENSP00000339823:p.Pro21Ser	NA	A8K913	37	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	c	6.497	0.459971	0.12342	.	.	ENSG00000187187	ENST00000347077	T	0.05855	3.38	1.66	-2.3	0.06785	.	.	.	.	.	T	0.02494	0.0076	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46317	-0.9200	9	0.21540	T	0.41	.	2.7014	0.05149	0.0:0.3319:0.2577:0.4104	.	21	Q86UE3	ZN546_HUMAN	S	21	ENSP00000339823:P21S	ENSP00000339823:P21S	P	+	1	0	ZNF546	45196134	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.425000	0.07017	-0.575000	0.05982	-0.142000	0.14014	CCT	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462495.2		+	ENST00000347077.4	Missense_Mutation	SNP	19 : 40504294 - 40504294 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	254	24
NKAP	79576	broad.mit.edu	37	X	119070262	119070262	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119070262C>T	ENST00000371410.3	-	4	837	c.671G>A	c.(670-672)aGt>aAt	p.S224N	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	224	Lys-rich.|Necessary for interaction with CIR1.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						GTTCTTACCACTGGAGTCTGT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	150	159			NA	NA	X		NA											NA				119070262		2203	4300	6503	SO:0001583	missense			BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882	79576	79576			29873	protein-coding gene	gene with protein product	NF kappaB activating protein	300766			NA	14550261	Standard	NM_024528	NM_024528	NA	Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.671G>A	X.37:g.119070262C>T	ENSP00000360464:p.Ser224Asn	NA	Q6IPW6|Q96BQ2|Q9H638	37	CCDS14592.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.268188	0.23136	.	.	ENSG00000101882	ENST00000371410	T	0.17054	2.3	5.02	4.13	0.48395	.	0.323216	0.35772	N	0.002996	T	0.19485	0.0468	L	0.33245	0.995	0.38041	D	0.935452	P;P	0.51791	0.948;0.939	P;P	0.52598	0.508;0.703	T	0.02933	-1.1092	10	0.28530	T	0.3	-6.188	10.8319	0.46665	0.0:0.9031:0.0:0.0969	.	224;224	Q8N5F7;A0PJ73	NKAP_HUMAN;.	N	224	ENSP00000360464:S224N	ENSP00000360464:S224N	S	-	2	0	NKAP	118954290	1.000000	0.71417	0.679000	0.29978	0.969000	0.65631	2.600000	0.46240	2.225000	0.72522	0.594000	0.82650	AGT	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058072.1		-	ENST00000371410.3	Missense_Mutation	SNP	X : 119070262 - 119070262 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	436	16
UCMA	221044	broad.mit.edu	37	10	13276255	13276255	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13276255T>G	ENST00000378681.3	-	1	76	c.4A>C	c.(4-6)Act>Cct	p.T2P	UCMA_ENST00000463405.2_Missense_Mutation_p.T2P	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	2						proteinaceous extracellular matrix				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						TGTCTCCAAGTCATCTTTGCA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	54	59			NA	NA	10		NA											NA				13276255		2203	4300	6503	SO:0001583	missense			BC018068	CCDS31147.1	10p13	2009-03-25	2009-03-25	2009-03-25	ENSG00000165623	ENSG00000165623	221044	221044			25205	protein-coding gene	gene with protein product			chromosome 10 open reading frame 49	C10orf49	NA	12477932	Standard	NM_145314	NM_145314	NA	Approved		uc001imd.3	Q8WVF2	OTTHUMG00000017692	ENST00000378681.3:c.4A>C	10.37:g.13276255T>G	ENSP00000367952:p.Thr2Pro	NA		37	CCDS31147.1	.	.	.	.	.	.	.	.	.	.	T	12.53	1.966081	0.34659	.	.	ENSG00000165623	ENST00000378681	.	.	.	5.08	1.47	0.22746	.	0.707604	0.14026	N	0.346452	T	0.28101	0.0693	L	0.36672	1.1	0.22280	N	0.999234	B	0.25105	0.118	B	0.26416	0.069	T	0.23691	-1.0181	9	0.46703	T	0.11	1.1185	2.6256	0.04928	0.2076:0.2732:0.0:0.5192	.	2	Q8WVF2	UCMA_HUMAN	P	2	.	ENSP00000367952:T2P	T	-	1	0	UCMA	13316261	0.998000	0.40836	0.984000	0.44739	0.555000	0.35460	0.630000	0.24553	0.008000	0.14787	0.459000	0.35465	ACT	UCMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046843.2		-	ENST00000378681.3	Missense_Mutation	SNP	10 : 13276255 - 13276255 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	194	29
RORA	6095	broad.mit.edu	37	15	60803641	60803641	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:60803641T>C	ENST00000335670.6	-	5	704	c.604A>G	c.(604-606)Aac>Gac	p.N202D	RP11-219B17.1_ENST00000501579.2_RNA|RORA_ENST00000261523.5_Missense_Mutation_p.N235D|RP11-219B17.1_ENST00000558235.1_RNA|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000449337.2_Missense_Mutation_p.N147D|RP11-219B17.1_ENST00000559902.1_RNA|RP11-219B17.1_ENST00000558140.1_RNA|RORA_ENST00000309157.4_Missense_Mutation_p.N227D	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	235	Hinge.|Poly-Gln.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						TCAATGTAGTTACTGAGGTCG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													205	151	169			NA	NA	15		NA											NA				60803641		2203	4300	6503	SO:0001583	missense			U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667	6095	6095		Nuclear hormone receptors	10258	protein-coding gene	gene with protein product		600825			NA	7926749	Standard		NM_134261	NA	Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.604A>G	15.37:g.60803641T>C	ENSP00000335087:p.Asn202Asp	NA	P35397|P35399|P45445|Q495X4|Q96H83	37	CCDS10177.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.184127	0.57800	.	.	ENSG00000069667	ENST00000335670;ENST00000449337;ENST00000309157;ENST00000261523	D;D;D;D	0.94330	-3.36;-3.36;-3.4;-3.32	5.9	4.78	0.61160	.	0.345548	0.38111	N	0.001813	T	0.79003	0.4373	N	0.02539	-0.55	0.34849	D	0.741446	B;B;B;B	0.33022	0.016;0.005;0.394;0.0	B;B;B;B	0.27076	0.05;0.037;0.076;0.001	T	0.78861	-0.2037	10	0.13470	T	0.59	.	9.0528	0.36387	0.0:0.1401:0.0:0.8599	.	202;227;235;147	P35398-2;P35398-3;P35398;P35398-4	.;.;RORA_HUMAN;.	D	202;147;227;235	ENSP00000335087:N202D;ENSP00000402971:N147D;ENSP00000309753:N227D;ENSP00000261523:N235D	ENSP00000261523:N235D	N	-	1	0	RORA	58590933	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	3.728000	0.54991	1.059000	0.40554	0.528000	0.53228	AAC	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256142.2		-	ENST00000335670.6	Missense_Mutation	SNP	15 : 60803641 - 60803641 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	735	60
LACC1	144811	broad.mit.edu	37	13	44464409	44464409	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:44464409A>G	ENST00000441843.1	+	6	1778	c.1293A>G	c.(1291-1293)tgA>tgG	p.*431W	LACC1_ENST00000325686.6_Splice_Site_p.*431W	NM_001128303.1	NP_001121775.1	Q8IV20	CM031_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	0											NA						TTAAAGAATGAGGTACAGTAG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	112	112			NA	NA	13		NA											NA				44464409		2203	4300	6503	SO:0001630	splice_region_variant			AK096044	CCDS9391.1	13q14.11	2012-05-11	2011-08-09	2011-08-09	ENSG00000179630	ENSG00000179630	144811	144811			26789	protein-coding gene	gene with protein product		613409	chromosome 13 open reading frame 31	C13orf31	NA	16740638, 22504414	Standard	NM_153218	NM_153218	NA	Approved	FLJ38725	uc010acg.3	Q8IV20	OTTHUMG00000016826	ENST00000441843.1:c.1290+1A>G	13.37:g.44464409A>G		NA	A2A3Z6|Q8N8X5	37	CCDS9391.1	.	.	.	.	.	.	.	.	.	.	A	13.37	2.217386	0.39201	.	.	ENSG00000179630	ENST00000441843;ENST00000325686	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0034	0.80327	1.0:0.0:0.0:0.0	.	.	.	.	W	431	.	.	X	+	3	0	LACC1	43362409	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	5.516000	0.67055	2.371000	0.80710	0.533000	0.62120	TGA	LACC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044726.3	Nonstop_Mutation	+	ENST00000441843.1	Splice_Site	SNP	13 : 44464409 - 44464409 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	235	46
C17orf77	146723	broad.mit.edu	37	17	72588204	72588204	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72588204T>C	ENST00000392620.1	+	3	381	c.19T>C	c.(19-21)Tca>Cca	p.S7P	C17orf77_ENST00000328023.2_Missense_Mutation_p.S7P|CD300LD_ENST00000375352.1_Intron	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	7						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						ATTGGCGCTGTCATTTTCCCT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	111	111			NA	NA	17		NA											NA				72588204		2203	4300	6503	SO:0001583	missense				CCDS32721.1	17q25.1	2006-01-16			ENSG00000182352	ENSG00000182352	146723	146723			26480	protein-coding gene	gene with protein product					NA		Standard	NM_152460	NM_152460	NA	Approved	FLJ31882	uc002jla.1	Q96MU5	OTTHUMG00000067611	ENST00000392620.1:c.19T>C	17.37:g.72588204T>C	ENSP00000376396:p.Ser7Pro	NA		37	CCDS32721.1	.	.	.	.	.	.	.	.	.	.	T	3.776	-0.046570	0.07407	.	.	ENSG00000182352	ENST00000524389;ENST00000392620;ENST00000328023	T;T	0.54866	0.55;0.55	2.47	-2.1	0.07210	.	.	.	.	.	T	0.28200	0.0696	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.18967	-1.0320	9	0.87932	D	0	.	6.4509	0.21903	0.0:0.3307:0.0:0.6693	.	7	Q96MU5	CQ077_HUMAN	P	7	ENSP00000376396:S7P;ENSP00000329353:S7P	ENSP00000329353:S7P	S	+	1	0	C17orf77	70099799	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.118000	0.10692	-0.473000	0.06871	-0.961000	0.02630	TCA	C17orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000145090.2		+	ENST00000392620.1	Missense_Mutation	SNP	17 : 72588204 - 72588204 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	693	119
OR1N2	138882	broad.mit.edu	37	9	125316257	125316257	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125316257G>A	ENST00000373688.2	+	1	867	c.809G>A	c.(808-810)gGg>gAg	p.G270E		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CTCTTCTATGGGTCTCTTATG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													227	230	229			NA	NA	9		NA											NA				125316257		2203	4300	6503	SO:0001583	missense				CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501	138882	138882		GPCR / Class A : Olfactory receptors	15111	protein-coding gene	gene with protein product					NA		Standard		NM_001004457	NA	Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.809G>A	9.37:g.125316257G>A	ENSP00000362792:p.Gly270Glu	NA	A3KFM2|B2RNY4|Q6IF17|Q96RA3	37	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511782	0.44660	.	.	ENSG00000171501	ENST00000373688	T	0.39056	1.1	4.56	3.66	0.41972	GPCR, rhodopsin-like superfamily (1);	0.138036	0.32819	N	0.005604	T	0.73321	0.3572	H	0.96489	3.83	0.09310	N	1	D	0.61697	0.99	D	0.74348	0.983	T	0.70543	-0.4843	10	0.72032	D	0.01	.	13.188	0.59693	0.0:0.0:0.8393:0.1607	.	270	Q8NGR9	OR1N2_HUMAN	E	270	ENSP00000362792:G270E	ENSP00000362792:G270E	G	+	2	0	OR1N2	124356078	0.000000	0.05858	0.212000	0.23672	0.842000	0.47809	-0.121000	0.10643	1.148000	0.42385	0.644000	0.83932	GGG	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053937.2		+	ENST00000373688.2	Missense_Mutation	SNP	9 : 125316257 - 125316257 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	665	123
STXBP5	134957	broad.mit.edu	37	6	147694892	147694892	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147694892C>T	ENST00000367481.3	+	24	3107	c.2999C>T	c.(2998-3000)cCt>cTt	p.P1000L	STXBP5_ENST00000367480.3_Missense_Mutation_p.P983L|STXBP5_ENST00000179882.6_Missense_Mutation_p.P691L|STXBP5_ENST00000321680.6_Missense_Mutation_p.P1036L	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	1036					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		CTCTTCACTCCTGTAGAAACA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	116	116			NA	NA	6		NA											NA				147694892		2203	4300	6503	SO:0001583	missense			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506	NA	134957		WD repeat domain containing	19665	protein-coding gene	gene with protein product		604586			NA	9620695, 14767561	Standard		NM_139244	NA	Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000367481.3:c.2999C>T	6.37:g.147694892C>T	ENSP00000356451:p.Pro1000Leu	NA	Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	37	CCDS5211.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.472193	0.63737	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.17854	2.33;2.25;2.45;2.89	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.08980	0.0222	L	0.46157	1.445	0.80722	D	1	B;B;B	0.17268	0.021;0.007;0.007	B;B;B	0.19148	0.013;0.024;0.024	T	0.06588	-1.0818	10	0.28530	T	0.3	.	14.9973	0.71443	0.0:0.9298:0.0:0.0702	.	1000;1036;691	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	L	1000;1036;983;691	ENSP00000356451:P1000L;ENSP00000321826:P1036L;ENSP00000356450:P983L;ENSP00000179882:P691L	ENSP00000179882:P691L	P	+	2	0	STXBP5	147736585	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.651000	0.67951	2.705000	0.92388	0.585000	0.79938	CCT	STXBP5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042605.1		+	ENST00000367481.3	Missense_Mutation	SNP	6 : 147694892 - 147694892 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	298	59
CTSV	1515	broad.mit.edu	37	9	99799653	99799653	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99799653C>A	ENST00000259470.5	-	4	526	c.277G>T	c.(277-279)Ggt>Tgt	p.G93C	CTSV_ENST00000538255.1_Missense_Mutation_p.G93C|CTSV_ENST00000479932.1_5'UTR	NM_001333.3	NP_001324.2			cathepsin V	NA											NA						CGAAAGCAACCCATCATCTGC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	104	104			NA	NA	9		NA											NA				99799653		2203	4300	6503	SO:0001583	missense			Y14734	CCDS6723.1	9q22.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000136943	ENSG00000136943	1515	1515		Cathepsins	2538	protein-coding gene	gene with protein product		603308	cathepsin L2	CTSL2	NA	9563472, 10029531	Standard	NM_001333	NM_001201575	NA	Approved	CTSU	uc004awt.3	O60911	OTTHUMG00000020314	ENST00000259470.5:c.277G>T	9.37:g.99799653C>A	ENSP00000259470:p.Gly93Cys	NA		37	CCDS6723.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513075	0.27123	.	.	ENSG00000136943	ENST00000259470;ENST00000538255	T;T	0.23754	1.89;1.89	3.81	2.69	0.31865	.	0.089923	0.85682	D	0.000000	T	0.26666	0.0652	M	0.64080	1.96	0.31860	N	0.621044	B;B	0.33073	0.396;0.396	B;B	0.39068	0.289;0.289	T	0.22034	-1.0228	9	.	.	.	.	7.0341	0.24983	0.0:0.1164:0.0:0.8835	.	93;93	B2R717;O60911	.;CATL2_HUMAN	C	93	ENSP00000259470:G93C;ENSP00000445052:G93C	.	G	-	1	0	CTSL2	98839474	1.000000	0.71417	0.997000	0.53966	0.164000	0.22412	5.621000	0.67743	0.852000	0.35287	-0.367000	0.07326	GGT	CTSV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053301.2		-	ENST00000259470.5	Missense_Mutation	SNP	9 : 99799653 - 99799653 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	538	68
CRIM1	51232	broad.mit.edu	37	2	36691752	36691752	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:36691752C>T	ENST00000280527.2	+	5	1312	c.945C>T	c.(943-945)ggC>ggT	p.G315G		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	315					nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	p.G315G(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TCTCTCGTGGCGATGGGACAC	0.502		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)						C		1,4405	2.1+/-5.4	0,1,2202	307	280	289		945	3.6	1	2		289	0,8600		0,0,4300	no	coding-synonymous	CRIM1	NM_016441.2		0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077		315/1037	36691752	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938	51232	51232			2359	protein-coding gene	gene with protein product		606189	cysteine-rich motor neuron 1	S52	NA	10642437	Standard	NM_016441	NM_016441	NA	Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.945C>T	2.37:g.36691752C>T		NA	Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	37	CCDS1783.1																																																																																			CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216878.2		+	ENST00000280527.2	Silent	SNP	2 : 36691752 - 36691752 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1083	174
RHBDF1	64285	broad.mit.edu	37	16	113124	113124	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:113124T>C	ENST00000262316.6	-	5	661	c.519A>G	c.(517-519)gaA>gaG	p.E173E	RHBDF1_ENST00000454039.2_Silent_p.E173E	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	173					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CACTCAGGCCTTCCGCAGTGT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	39	39			NA	NA	16		NA											NA				113124		2183	4274	6457	SO:0001819	synonymous_variant			BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384	64285	64285			20561	protein-coding gene	gene with protein product		614403	chromosome 16 open reading frame 8, rhomboid family 1 (Drosophila)	C16orf8	NA	8318735, 15965977	Standard	NM_022450	NM_022450	NA	Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.519A>G	16.37:g.113124T>C		NA	Q1W6H2|Q4TT59|Q96S34|Q9H6E1	37	CCDS32344.1																																																																																			RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000134178.2		-	ENST00000262316.6	Silent	SNP	16 : 113124 - 113124 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	90	16
GSE1	23199	broad.mit.edu	37	16	85699592	85699592	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85699592G>A	ENST00000253458.7	+	13	2945	c.2769G>A	c.(2767-2769)acG>acA	p.T923T	GSE1_ENST00000393243.1_Silent_p.T850T|GSE1_ENST00000405402.2_Silent_p.T819T	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein	NA											NA						AACCAGCCACGCAGCAAGCCT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	46	44			NA	NA	16		NA											NA				85699592		2198	4300	6498	SO:0001819	synonymous_variant			D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149	23199	23199			28979	protein-coding gene	gene with protein product	genetic suppressor element 1		KIAA0182, Gse1 coiled-coil protein homolog (mouse)	KIAA0182	NA	8724849, 8786132	Standard	NM_014615	NM_014615	NA	Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.2769G>A	16.37:g.85699592G>A		NA		37	CCDS10952.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.697885	0.00725	.	.	ENSG00000131149	ENST00000412692;ENST00000438180	.	.	.	5.28	-4.61	0.03380	.	.	.	.	.	T	0.52853	0.1760	.	.	.	0.52501	D	0.999957	.	.	.	.	.	.	T	0.50792	-0.8786	4	.	.	.	-6.0061	9.7617	0.40537	0.5143:0.0:0.3964:0.0893	.	.	.	.	H	692;125	.	.	R	+	2	0	KIAA0182	84257093	0.003000	0.15002	0.390000	0.26220	0.009000	0.06853	-0.179000	0.09768	-1.811000	0.01229	-4.500000	0.00005	CGC	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325527.1		+	ENST00000253458.7	Silent	SNP	16 : 85699592 - 85699592 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	109
ZNF345	25850	broad.mit.edu	37	19	37368396	37368396	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37368396C>T	ENST00000529555.1	+	2	1452	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.R222W|ZNF345_ENST00000589046.1_Missense_Mutation_p.R222W|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	222					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAACATCGGCGGATTCATAC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	71	72			NA	NA	19		NA											NA				37368396		2203	4300	6503	SO:0001583	missense			X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247	25850	25850		Zinc fingers, C2H2-type	16367	protein-coding gene	gene with protein product					NA	7865130	Standard		NM_003419	NA	Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.664C>T	19.37:g.37368396C>T	ENSP00000431202:p.Arg222Trp	NA		37	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.558761	0.45590	.	.	ENSG00000251247	ENST00000420450;ENST00000529555	T;T	0.02498	4.27;4.27	4.14	0.46	0.16684	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14917	0.0360	M	0.82323	2.585	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02901	-1.1096	8	.	.	.	.	12.5431	0.56184	0.2942:0.7058:0.0:0.0	.	222	Q14585	ZN345_HUMAN	W	222	ENSP00000431216:R222W;ENSP00000431202:R222W	.	R	+	1	2	ZNF345	42060236	0.000000	0.05858	0.542000	0.28115	0.991000	0.79684	-0.512000	0.06313	-0.073000	0.12842	0.561000	0.74099	CGG	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388258.1		+	ENST00000529555.1	Missense_Mutation	SNP	19 : 37368396 - 37368396 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	60
TTN	7273	broad.mit.edu	37	2	179472319	179472319	+	Missense_Mutation	SNP	C	C	T	rs72646808	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179472319C>T	ENST00000589042.1	-	277	53320	c.53096G>A	c.(53095-53097)cGc>cAc	p.R17699H	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R16058H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R8759H|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R8634H|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15131H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R8826H|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16058	Fibronectin type-III 28.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R15131H(2)|p.R8826H(1)|p.R8759H(1)|p.R8634H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGTACAGGGCGACCAGTCAC	0.448		NA											C	2	9e-04	NA	NA	2184	NA	0.9993	,	,	NA	4e-04	0.0026	NA	NA	0.0012	0.7789	LOWCOV	NA	NA	5e-04	SNP								NA				5	Substitution - Missense(5)	lung(5)						C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	2,3750		0,2,1874	281	266	271		25901,45392,26276,26477	6	1	2	dbSNP_130	271	25,8189		0,25,4082	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	29,29,29,29	0,27,5956	TT,TC,CC	NA	0.3044,0.0533,0.2256	probably-damaging,probably-damaging,probably-damaging,probably-damaging	8634/26927,15131/33424,8759/27052,8826/27119	179472319	27,11939	1876	4107	5983	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.53096G>A	2.37:g.179472319C>T	ENSP00000467141:p.Arg17699His	NA	E7ET18	37	CCDS59435.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	12.60	1.987804	0.35036	5.33E-4	0.003044	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.99	5.99	0.97316	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77054	0.4074	L	0.35723	1.085	0.52099	D	0.99994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.74674	0.971;0.971;0.971;0.984	T	0.77621	-0.2519	9	0.87932	D	0	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	8634;8759;8826;16058	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	15131;8634;8826;8759;8634	ENSP00000343764:R15131H;ENSP00000434586:R8634H;ENSP00000340554:R8826H;ENSP00000352154:R8759H	ENSP00000340554:R8826H	R	-	2	0	TTN	179180564	1.000000	0.71417	0.970000	0.41538	0.837000	0.47467	4.428000	0.59894	2.840000	0.97914	0.655000	0.94253	CGC	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179472319 - 179472319 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1790	445
ULK4	54986	broad.mit.edu	37	3	41756938	41756938	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41756938C>A	ENST00000301831.4	-	24	3040		c.e24+1			NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	NA							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TACAATAGTACCTGTGAAGTT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	94	95			NA	NA	3		NA											NA				41756938		1901	4127	6028	SO:0001630	splice_region_variant			AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038	54986	54986			15784	protein-coding gene	gene with protein product			unc-51-like kinase 4 (C. elegans)		NA	12477932	Standard	XM_929989	NM_017886	NA	Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.2577+1G>T	3.37:g.41756938C>A		NA	A6NF15|Q8IW79|Q9NWV6|Q9UF96	37	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383800	0.61845	.	.	ENSG00000168038	ENST00000301831	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8774	0.96884	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ULK4	41731942	1.000000	0.71417	1.000000	0.80357	0.405000	0.30901	6.775000	0.75018	2.703000	0.92315	0.650000	0.86243	.	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343490.1	Intron	-	ENST00000301831.4	Splice_Site	SNP	3 : 41756938 - 41756938 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	392	73
GFAP	2670	broad.mit.edu	37	17	42990750	42990750	+	Missense_Mutation	SNP	C	C	T	rs56679084		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42990750C>T	ENST00000253408.5	-	4	732	c.667G>A	c.(667-669)Gag>Aag	p.E223K	GFAP_ENST00000586793.1_Missense_Mutation_p.E223K|GFAP_ENST00000435360.2_Missense_Mutation_p.E223K|GFAP_ENST00000588735.1_Intron	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	223	Linker 12.|Rod.		E -> Q (in ALEXD; adult form; dbSNP:rs56679084).			cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				ACGTCAAGCTCCACATGGACC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM034656	GFAP	M	rs56679084						81	64	70			NA	NA	17		NA											NA				42990750		2203	4300	6503	SO:0001583	missense			S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16					2670	2670		Intermediate filaments type III	4235	protein-coding gene	gene with protein product	intermediate filament protein	137780			NA	9693047	Standard	NM_002055	NM_002055	NA	Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.667G>A	17.37:g.42990750C>T	ENSP00000253408:p.Glu223Lys	NA	B2RD44|D3DX59|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	37	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036126	0.75617	.	.	ENSG00000131095	ENST00000253408;ENST00000421021;ENST00000435360	D;D	0.92495	-3.05;-3.05	4.93	4.93	0.64822	Filament (1);	0.058017	0.64402	D	0.000002	D	0.94823	0.8328	M	0.73319	2.225	0.58432	D	0.999992	D;D	0.56968	0.978;0.972	P;D	0.62955	0.829;0.909	D	0.92488	0.5998	10	0.20046	T	0.44	.	18.3229	0.90244	0.0:1.0:0.0:0.0	.	223;223	E9PAX3;P14136	.;GFAP_HUMAN	K	223;198;223	ENSP00000253408:E223K;ENSP00000403962:E223K	ENSP00000253408:E223K	E	-	1	0	GFAP	40346276	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	7.651000	0.83577	2.746000	0.94184	0.655000	0.94253	GAG	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448701.1		-	ENST00000253408.5	Missense_Mutation	SNP	17 : 42990750 - 42990750 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	402	82
MYO5B	4645	broad.mit.edu	37	18	47363955	47363955	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47363955G>A	ENST00000285039.7	-	37	5369	c.5070C>T	c.(5068-5070)aaC>aaT	p.N1690N	SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000592688.1_Silent_p.N260N|MYO5B_ENST00000324581.6_Silent_p.N805N|RP11-886H22.1_ENST00000590532.2_Silent_p.N13N	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1690	Dilute.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GAGTCACTGCGTTGATCATGT	0.512		NA											G	1	5e-04	NA	0.0028	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	4e-04	0.8999	EXOME	NA	NA	6e-04	SNP								NA				0								G		1,4077		0,1,2038	68	65	66		5070	-3.4	0.4	18		66	0,8374		0,0,4187	no	coding-synonymous	MYO5B	NM_001080467.2		0,1,6225	AA,AG,GG	NA	0.0,0.0245,0.0080		1690/1849	47363955	1,12451	2039	4187	6226	SO:0001819	synonymous_variant			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306	4645	4645		Myosins / Myosin superfamily : Class V	7603	protein-coding gene	gene with protein product		606540			NA	8884266, 17462998	Standard		NM_001080467	NA	Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.5070C>T	18.37:g.47363955G>A		NA	B0I1R3	37	CCDS42436.1																																																																																			MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448515.2		-	ENST00000285039.7	Silent	SNP	18 : 47363955 - 47363955 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	280	59
KLHL34	257240	broad.mit.edu	37	X	21675171	21675171	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:21675171C>T	ENST00000379499.2	-	1	1277	c.736G>A	c.(736-738)Gcc>Acc	p.A246T		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	246										cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						TTGACCCGGGCGGGCAGCACG	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	18	18			NA	NA	X		NA											NA				21675171		2198	4293	6491	SO:0001583	missense			AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915	257240	257240		Kelch-like, BTB/POZ domain containing	26634	protein-coding gene	gene with protein product			kelch-like 34 (Drosophila)		NA		Standard	NM_153270	NM_153270	NA	Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.736G>A	X.37:g.21675171C>T	ENSP00000368813:p.Ala246Thr	NA		37	CCDS14199.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.692502	0.00731	.	.	ENSG00000185915	ENST00000379499	T	0.72505	-0.66	4.65	-0.922	0.10468	.	0.198499	0.44097	N	0.000496	T	0.46171	0.1379	L	0.31578	0.945	0.09310	N	0.999999	B	0.09022	0.002	B	0.04013	0.001	T	0.14615	-1.0466	10	0.12430	T	0.62	.	3.0359	0.06122	0.13:0.4688:0.248:0.1531	.	246	Q8N239	KLH34_HUMAN	T	246	ENSP00000368813:A246T	ENSP00000368813:A246T	A	-	1	0	KLHL34	21585092	0.000000	0.05858	0.009000	0.14445	0.381000	0.30169	-0.519000	0.06260	-0.187000	0.10516	0.422000	0.28245	GCC	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056022.1		-	ENST00000379499.2	Missense_Mutation	SNP	X : 21675171 - 21675171 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	118	32
MAMDC4	158056	broad.mit.edu	37	9	139752883	139752883	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139752883C>T	ENST00000317446.2	+	22	2756	c.2706C>T	c.(2704-2706)ggC>ggT	p.G902G	MAMDC4_ENST00000445819.1_Silent_p.G981G|MAMDC4_ENST00000485732.1_3'UTR	NM_206920.2	NP_996803.2	Q6UXC1	AEGP_HUMAN	MAM domain containing 4	981	MAM 5.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GCCTGTGTGGCTGGAGCCACC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	47	45			NA	NA	9		NA											NA				139752883		2199	4299	6498	SO:0001819	synonymous_variant			AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943	158056	158056			24083	protein-coding gene	gene with protein product	apical early endosomal glycoprotein precursor, endotubin				NA	7829488	Standard	NM_206920	NM_206920	NA	Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.2706C>T	9.37:g.139752883C>T		NA	A2A3D4|B0QZ81|Q5T5S2|Q8NCX7	37	CCDS7010.1																																																																																			MAMDC4-005	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254642.3		+	ENST00000317446.2	Silent	SNP	9 : 139752883 - 139752883 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	312	59
XIRP1	165904	broad.mit.edu	37	3	39229562	39229562	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39229562G>A	ENST00000340369.3	-	2	1603	c.1375C>T	c.(1375-1377)Ctg>Ttg	p.L459L	XIRP1_ENST00000396251.1_Silent_p.L459L|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	459							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCATGGGCCAGAACCTCACCC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	169	165			NA	NA	3		NA											NA				39229562		2203	4300	6503	SO:0001819	synonymous_variant			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334	165904	165904			14301	protein-coding gene	gene with protein product		609777	cardiomyopathy associated 1	CMYA1	NA	12203715, 15454575	Standard	XM_093522	NM_001198621	NA	Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.1375C>T	3.37:g.39229562G>A		NA	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	37	CCDS2683.1																																																																																			XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254065.1		-	ENST00000340369.3	Silent	SNP	3 : 39229562 - 39229562 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1503	274
USHBP1	83878	broad.mit.edu	37	19	17373654	17373654	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17373654C>A	ENST00000252597.3	-	4	522	c.349G>T	c.(349-351)Gat>Tat	p.D117Y	USHBP1_ENST00000431146.2_Missense_Mutation_p.D53Y|USHBP1_ENST00000598570.1_5'UTR	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	117							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TGAAACACATCGGGGGCCCCA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	65	62			NA	NA	19		NA											NA				17373654		2203	4300	6503	SO:0001583	missense			AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307	83878	83878			24058	protein-coding gene	gene with protein product		611810			NA	11311560	Standard	NM_031941	XM_005260093	NA	Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.349G>T	19.37:g.17373654C>A	ENSP00000252597:p.Asp117Tyr	NA	Q8NBX7|Q96KH3|Q9BYI8	37	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	C	9.302	1.053407	0.19907	.	.	ENSG00000130307	ENST00000252597;ENST00000431146;ENST00000324554	T;T	0.23950	1.92;1.88	3.98	1.83	0.25207	.	0.503260	0.17836	N	0.160369	T	0.30665	0.0772	L	0.29908	0.895	0.09310	N	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.69654	0.936;0.965;0.965	T	0.03354	-1.1045	10	0.87932	D	0	-7.551	4.9626	0.14074	0.0:0.7191:0.0:0.2809	.	53;117;117	B4DUE8;Q8N8Y1;Q8N6Y0	.;.;USBP1_HUMAN	Y	117;53;117	ENSP00000252597:D117Y;ENSP00000407902:D53Y	ENSP00000252597:D117Y	D	-	1	0	USHBP1	17234654	0.005000	0.15991	0.045000	0.18777	0.018000	0.09664	1.028000	0.30128	0.960000	0.38005	0.563000	0.77884	GAT	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463328.1		-	ENST00000252597.3	Missense_Mutation	SNP	19 : 17373654 - 17373654 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	686	152
TEAD3	7005	broad.mit.edu	37	6	35443205	35443205	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35443205A>G	ENST00000338863.7	-	12	1329	c.1102T>C	c.(1102-1104)Tgc>Cgc	p.C368R	TEAD3_ENST00000402886.3_Missense_Mutation_p.C308R	NM_003214.3	NP_003205	Q99594	TEAD3_HUMAN	TEA domain family member 3	368	Transcriptional activation (Potential).				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						ATGTACTCGCACATGGGCGAG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	97	98			NA	NA	6		NA											NA				35443205		2203	4300	6503	SO:0001583	missense			X94439	CCDS47414.1	6p21.2	2008-07-28			ENSG00000007866	ENSG00000007866	7005	7005			11716	protein-coding gene	gene with protein product		603170		TEAD5	NA	9889009, 9148898	Standard		NM_003214	NA	Approved	TEF-5, ETFR-1	uc003oku.4	Q99594	OTTHUMG00000014571	ENST00000338863.7:c.1102T>C	6.37:g.35443205A>G	ENSP00000345772:p.Cys368Arg	NA	O95910|Q5BJG7|Q8N6Y4	37	CCDS47414.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.076978	0.76415	.	.	ENSG00000007866	ENST00000338863;ENST00000402886;ENST00000373905	T;T	0.32988	1.43;1.43	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.60143	0.2246	H	0.94886	3.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	T	0.73575	-0.3939	10	0.87932	D	0	-32.1485	14.5092	0.67772	1.0:0.0:0.0:0.0	.	308;384;368	B5MCM0;Q7Z6V0;Q99594	.;.;TEAD3_HUMAN	R	368;308;384	ENSP00000345772:C368R;ENSP00000384577:C308R	ENSP00000345772:C368R	C	-	1	0	TEAD3	35551183	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.265000	0.95647	2.023000	0.59567	0.374000	0.22700	TGC	TEAD3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040298.2		-	ENST00000338863.7	Missense_Mutation	SNP	6 : 35443205 - 35443205 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	377	30
VPS9D1	9605	broad.mit.edu	37	16	89774857	89774857	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89774857G>T	ENST00000561976.1	-	13	1947	c.1570C>A	c.(1570-1572)Ctg>Atg	p.L524M	VPS9D1_ENST00000389386.3_Missense_Mutation_p.L594M					VPS9 domain containing 1	NA											NA						AACTCCTCCAGGGCCGCGCAC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	29	27			NA	NA	16		NA											NA				89774857		2104	4217	6321	SO:0001583	missense			AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399	9605	9605			13526	protein-coding gene	gene with protein product			chromosome 16 open reading frame 7	C16orf7	NA	10231027	Standard	NM_004913	NM_004913	NA	Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000561976.1:c.1570C>A	16.37:g.89774857G>T	ENSP00000454244:p.Leu524Met	NA		37		.	.	.	.	.	.	.	.	.	.	G	13.70	2.315701	0.40996	.	.	ENSG00000075399	ENST00000389386	T	0.32272	1.46	5.13	3.16	0.36331	Vacuolar sorting protein 9 (2);	0.000000	0.64402	D	0.000001	T	0.32585	0.0834	N	0.16266	0.395	0.46954	D	0.99926	D	0.89917	1.0	D	0.97110	1.0	T	0.04065	-1.0980	10	0.12103	T	0.63	-1.9553	10.4986	0.44791	0.1606:0.0:0.8394:0.0	.	594	Q9Y2B5	CP007_HUMAN	M	594	ENSP00000374037:L594M	ENSP00000374037:L594M	L	-	1	2	C16orf7	88302358	0.743000	0.28239	1.000000	0.80357	0.880000	0.50808	0.999000	0.29757	0.563000	0.29222	0.462000	0.41574	CTG	VPS9D1-001	PUTATIVE	non_canonical_conserved|basic	protein_coding	NA	protein_coding	OTTHUMT00000422507.1		-	ENST00000561976.1	Missense_Mutation	SNP	16 : 89774857 - 89774857 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	173	45
ISLR2	57611	broad.mit.edu	37	15	74425273	74425273	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74425273G>A	ENST00000361742.3	+	4	947	c.178G>A	c.(178-180)Gcg>Acg	p.A60T	ISLR2_ENST00000565159.1_Missense_Mutation_p.A60T|ISLR2_ENST00000453268.2_Missense_Mutation_p.A60T|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000435464.1_Missense_Mutation_p.A60T|ISLR2_ENST00000565540.1_Missense_Mutation_p.A60T|ISLR2_ENST00000445793.1_Missense_Mutation_p.A60T|ISLR2_ENST00000419208.1_Missense_Mutation_p.A60T	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	60					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						TAGTCTGTCCGCGAACAAGAT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	60	64			NA	NA	15		NA											NA				74425273		2198	4297	6495	SO:0001583	missense				CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178	57611	57611		Immunoglobulin superfamily / Immunoglobulin-like domain containing	29286	protein-coding gene	gene with protein product		614179			NA	10819331, 12975309	Standard	NM_020851	NM_001130136	NA	Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.178G>A	15.37:g.74425273G>A	ENSP00000355402:p.Ala60Thr	NA	A8K352|Q9P263	37	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.714877	0.68844	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000395121;ENST00000419208	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.49150	0.1540	N	0.20845	0.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.44620	-0.9316	10	0.23891	T	0.37	.	17.5608	0.87906	0.0:0.0:1.0:0.0	.	60	Q6UXK2	ISLR2_HUMAN	T	60	ENSP00000403244:A60T;ENSP00000355402:A60T;ENSP00000411443:A60T;ENSP00000411834:A60T;ENSP00000408872:A60T	ENSP00000355402:A60T	A	+	1	0	ISLR2	72212326	1.000000	0.71417	0.995000	0.50966	0.242000	0.25591	9.661000	0.98601	2.151000	0.67156	0.407000	0.27541	GCG	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269046.1		+	ENST00000361742.3	Missense_Mutation	SNP	15 : 74425273 - 74425273 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	578	116
HPD	3242	broad.mit.edu	37	12	122281734	122281734	+	Missense_Mutation	SNP	C	C	T	rs140144597	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122281734C>T	ENST00000543163.1	-	13	1164	c.719G>A	c.(718-720)cGc>cAc	p.R240H	HPD_ENST00000289004.4_Missense_Mutation_p.R279H	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	279					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TCTCAAGTGGCGAATCTGTTT	0.537		NA											C	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	0.0018	SNP								NA				0								C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	114	107	109		719,836	2.3	1	12	dbSNP_134	109	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	HPD	NM_001171993.1,NM_002150.2	29,29	0,3,6500	TT,TC,CC	NA	0.0349,0.0,0.0231	possibly-damaging,possibly-damaging	240/355,279/394	122281734	3,13003	2203	4300	6503	SO:0001583	missense			BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	3242	3242	1.13.11.27		5147	protein-coding gene	gene with protein product	glyoxalase domain containing 3	609695		PPD	NA		Standard	NM_002150	NM_001171993	NA	Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000543163.1:c.719G>A	12.37:g.122281734C>T	ENSP00000441677:p.Arg240His	NA	A8K461|Q13234	37	CCDS53839.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.07	1.826537	0.32329	0.0	3.49E-4	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	T;T	0.64803	-0.12;-0.12	4.32	2.32	0.28847	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.558450	0.19279	N	0.118206	T	0.64605	0.2613	M	0.82517	2.595	0.36281	D	0.855792	P	0.40083	0.702	B	0.39617	0.305	T	0.74559	-0.3625	10	0.48119	T	0.1	-25.6894	12.6809	0.56922	0.0:0.4062:0.5938:0.0	.	279	P32754	HPPD_HUMAN	H	279;276;240	ENSP00000289004:R279H;ENSP00000441677:R240H	ENSP00000289004:R279H	R	-	2	0	HPD	120766117	0.999000	0.42202	0.992000	0.48379	0.502000	0.33828	1.786000	0.38694	1.003000	0.39130	0.511000	0.50034	CGC	HPD-001	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402185.1		-	ENST00000543163.1	Missense_Mutation	SNP	12 : 122281734 - 122281734 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	306	48
ACAN	176	broad.mit.edu	37	15	89403630	89403630	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89403630C>T	ENST00000561243.1	+	12	6906	c.6906C>T	c.(6904-6906)tgC>tgT	p.C2302C	ACAN_ENST00000352105.7_Intron|ACAN_ENST00000439576.2_Silent_p.C2302C|ACAN_ENST00000559004.1_Intron			E7EX88	E7EX88_HUMAN	aggrecan	2302					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			ACGTCATATGCCTGTGCCCCC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	47	46			NA	NA	15		NA											NA				89403630		2057	4176	6233	SO:0001819	synonymous_variant			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766	176	176		Immunoglobulin superfamily / V-set domain containing, Proteoglycans / Extracellular Matrix : Hyalectans	319	protein-coding gene	gene with protein product	aggrecan proteoglycan	155760	chondroitin sulfate proteoglycan 1, aggrecan 1	MSK16, CSPG1, AGC1	NA	1985970	Standard	NM_001135	NM_013227	NA	Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.6906C>T	15.37:g.89403630C>T		NA		37	CCDS53970.1																																																																																			ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416267.2		+	ENST00000561243.1	Silent	SNP	15 : 89403630 - 89403630 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	141	17
RPSA	3921	broad.mit.edu	37	3	39450202	39450202	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39450202G>T	ENST00000301821.6	+	3	348	c.239G>T	c.(238-240)aGg>aTg	p.R80M	RPSA_ENST00000478027.1_3'UTR|RPSA_ENST00000443003.1_Missense_Mutation_p.R80M	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2	P08865	RSSA_HUMAN	ribosomal protein SA	80	Interaction with PPP1R16B.				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		ATATCCTCCAGGAATACTGGC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	57	56			NA	NA	3		NA											NA				39450202		2203	4299	6502	SO:0001583	missense			S37431	CCDS2686.1	3p21.3	2014-09-17	2002-08-29	2005-02-11	ENSG00000168028	ENSG00000168028	3921	3921			6502	protein-coding gene	gene with protein product		150370	laminin receptor 1 (67kD, ribosomal protein SA)	LAMR1	NA	1534510, 8760291	Standard	NM_002295	NM_001012321	NA	Approved	LRP, 37LRP, p40, SA	uc003cjp.3	P08865	OTTHUMG00000131296	ENST00000301821.6:c.239G>T	3.37:g.39450202G>T	ENSP00000346067:p.Arg80Met	NA	P11085|P12030|Q16471|Q6IPD1|Q6IPD2|Q6NSD1|Q6NXQ8|Q86VC0	37	CCDS2686.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753442	0.89753	.	.	ENSG00000168028	ENST00000301821;ENST00000458478;ENST00000443003	T;T;T	0.52057	0.68;0.68;0.68	4.53	4.53	0.55603	Ribosomal protein S2, flavodoxin-like domain (1);	0.000000	0.85682	U	0.000000	T	0.80555	0.4645	H	0.99225	4.475	0.58432	D	0.999999	D;D	0.65815	0.995;0.995	D;P	0.65233	0.933;0.895	D	0.89040	0.3448	10	0.87932	D	0	.	15.1272	0.72493	0.0:0.0:1.0:0.0	.	80;80	C9J9K3;P08865	.;RSSA_HUMAN	M	80	ENSP00000346067:R80M;ENSP00000410848:R80M;ENSP00000389351:R80M	ENSP00000346067:R80M	R	+	2	0	RPSA	39425206	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.463000	0.97652	2.220000	0.72140	0.462000	0.41574	AGG	RPSA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254064.3		+	ENST00000301821.6	Missense_Mutation	SNP	3 : 39450202 - 39450202 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	578	33
DLL1	28514	broad.mit.edu	37	6	170592876	170592876	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170592876G>A	ENST00000366756.3	-	9	1824	c.1491C>T	c.(1489-1491)caC>caT	p.H497H		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	497	EGF-like 8.				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		GGCCCCTCTCGTGGCAGGTGG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	14	14			NA	NA	6		NA											NA				170592876		2187	4279	6466	SO:0001819	synonymous_variant			AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719	28514	28514			2908	protein-coding gene	gene with protein product		606582	delta (Drosophila)-like 1		NA		Standard		NM_005618	NA	Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.1491C>T	6.37:g.170592876G>A		NA	B2RAK7|Q9NU41|Q9UJV2	37	CCDS5313.1																																																																																			DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043254.1		-	ENST00000366756.3	Silent	SNP	6 : 170592876 - 170592876 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	74	13
ROBO1	6091	broad.mit.edu	37	3	78701024	78701024	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:78701024A>C	ENST00000464233.1	-	19	2783	c.2670T>G	c.(2668-2670)atT>atG	p.I890M	ROBO1_ENST00000467549.1_Missense_Mutation_p.I854M|ROBO1_ENST00000495273.1_Missense_Mutation_p.I854M|ROBO1_ENST00000436010.2_Missense_Mutation_p.I851M	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	890					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CCACATCTGAAATCTGCTGAG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	140	141			NA	NA	3		NA											NA				78701024		2040	4192	6232	SO:0001583	missense			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855	6091	6091		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	10249	protein-coding gene	gene with protein product		602430	roundabout (axon guidance receptor, Drosophila) homolog 1		NA	9458045, 9608531	Standard	NM_002941	NM_002941	NA	Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.2670T>G	3.37:g.78701024A>C	ENSP00000420321:p.Ile890Met	NA	D3DU36|Q7Z300|Q9BUS7	37	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.965960	0.34659	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.63255	-0.0;-0.03;-0.01;0.08	5.98	-3.3	0.05003	.	0.000000	0.85682	D	0.000000	T	0.69628	0.3132	L	0.56769	1.78	0.44221	D	0.997057	D;D;D;D;D	0.89917	0.997;0.999;1.0;0.999;0.993	D;D;D;D;D	0.85130	0.994;0.974;0.997;0.95;0.963	T	0.66384	-0.5937	9	.	.	.	.	12.2667	0.54683	0.2272:0.0:0.6642:0.1086	.	854;890;854;854;851	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	M	851;854;890;854;854;894	ENSP00000406043:I851M;ENSP00000420321:I890M;ENSP00000420637:I854M;ENSP00000417992:I854M	.	I	-	3	3	ROBO1	78783714	1.000000	0.71417	0.561000	0.28357	0.019000	0.09904	0.902000	0.28459	-0.923000	0.03785	-1.054000	0.02325	ATT	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352610.1		-	ENST00000464233.1	Missense_Mutation	SNP	3 : 78701024 - 78701024 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	736	137
IRF8	3394	broad.mit.edu	37	16	85942733	85942733	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85942733C>T	ENST00000268638.5	+	3	734	c.312C>T	c.(310-312)tcC>tcT	p.S104S	IRF8_ENST00000563180.1_Silent_p.S104S	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	104					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				TGGACATTTCCGAGCCATACA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	56	56			NA	NA	16		NA											NA				85942733		2198	4300	6498	SO:0001819	synonymous_variant			M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968	3394	3394			5358	protein-coding gene	gene with protein product		601565	interferon consensus sequence binding protein 1	ICSBP1	NA	1460054, 11997525	Standard	NM_002163	NM_002163	NA	Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.312C>T	16.37:g.85942733C>T		NA	A0AV82	37	CCDS10956.1																																																																																			IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269100.2		+	ENST00000268638.5	Silent	SNP	16 : 85942733 - 85942733 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	330	57
HES2	54626	broad.mit.edu	37	1	6479365	6479365	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6479365G>T	ENST00000377834.4	-	3	275	c.177C>A	c.(175-177)gtC>gtA	p.V59V	HES2_ENST00000377836.4_Intron|HES2_ENST00000489730.1_Silent_p.V59V|HES2_ENST00000377837.1_Intron|HES2_ENST00000487437.1_Intron	NM_019089.4	NP_061962.2	Q9Y543	HES2_HUMAN	hes family bHLH transcription factor 2	59	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				lung(1)|ovary(1)	2	Ovarian(185;0.0634)|all_lung(157;0.154)	all_cancers(23;1.05e-30)|all_epithelial(116;1.37e-17)|all_hematologic(16;1.81e-05)|all_lung(118;2.27e-05)|Acute lymphoblastic leukemia(12;4.98e-05)|Lung NSC(185;9.97e-05)|Colorectal(325;0.0002)|all_neural(13;0.000531)|Renal(390;0.00188)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.02e-35)|GBM - Glioblastoma multiforme(13;1.75e-28)|Colorectal(212;6.1e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000888)|BRCA - Breast invasive adenocarcinoma(365;0.00106)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		TCATTTCCAGGACGTCTGCCT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	36	34			NA	NA	1		NA											NA				6479365		2200	4297	6497	SO:0001819	synonymous_variant			AL031848	CCDS30574.1	1p36.31	2013-10-17	2013-10-17		ENSG00000069812	ENSG00000069812	54626	54626		Basic helix-loop-helix proteins	16005	protein-coding gene	gene with protein product		609970	hairy and enhancer of split 2 (Drosophila)		NA	15254753	Standard	NM_019089	NM_019089	NA	Approved	bHLHb40	uc001amx.3	Q9Y543	OTTHUMG00000000752	ENST00000377834.4:c.177C>A	1.37:g.6479365G>T		NA	Q96EN4|Q9Y542	37	CCDS30574.1																																																																																			HES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000001881.1		-	ENST00000377834.4	Silent	SNP	1 : 6479365 - 6479365 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	186	16
TMPRSS6	164656	broad.mit.edu	37	22	37499282	37499282	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37499282G>A	ENST00000381792.2	-	2	316	c.176C>T	c.(175-177)gCg>gTg	p.A59V	TMPRSS6_ENST00000406725.1_Missense_Mutation_p.A59V|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.A59V|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.A68V|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.A68V			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	68					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TAGCACCCCCGCCGAAGCCAG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	50	50			NA	NA	22		NA											NA				37499282		2203	4300	6503	SO:0001583	missense			AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045	164656	164656		Serine peptidases / Transmembrane	16517	protein-coding gene	gene with protein product		609862			NA		Standard	NM_153609	NM_001289000	NA	Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000381792.2:c.176C>T	22.37:g.37499282G>A	ENSP00000371211:p.Ala59Val	NA	B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	37		.	.	.	.	.	.	.	.	.	.	G	0.010	-1.776603	0.00640	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000442782;ENST00000423761	D;D;D;D;T;D	0.91740	-2.9;-2.9;-2.9;-2.9;-0.88;-2.44	4.39	-3.81	0.04294	.	0.568873	0.16744	N	0.201301	T	0.76371	0.3978	N	0.14661	0.345	0.09310	N	0.999992	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.0	T	0.66822	-0.5826	10	0.05620	T	0.96	.	6.138	0.20243	0.2238:0.3691:0.4071:0.0	.	68;59;68	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	V	59;68;59;59;68;59	ENSP00000371211:A59V;ENSP00000334962:A68V;ENSP00000385453:A59V;ENSP00000384964:A59V;ENSP00000397691:A68V;ENSP00000400317:A59V	ENSP00000334962:A68V	A	-	2	0	TMPRSS6	35829228	0.412000	0.25392	0.426000	0.26672	0.059000	0.15707	0.133000	0.15912	-0.296000	0.08947	-0.362000	0.07510	GCG	TMPRSS6-201	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000318821.1		-	ENST00000381792.2	Missense_Mutation	SNP	22 : 37499282 - 37499282 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	435	89
MMP21	118856	broad.mit.edu	37	10	127461256	127461256	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127461256C>T	ENST00000368808.3	-	3	760	c.761G>A	c.(760-762)cGc>cAc	p.R254H		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	254					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GTCACCTAGGCGCCAGGCGTG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	102	109			NA	NA	10		NA											NA				127461256		2203	4300	6503	SO:0001583	missense			AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485	118856	118856			14357	protein-coding gene	gene with protein product		608416	matrix metalloproteinase 21		NA	11255011	Standard		NM_147191	NA	Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.761G>A	10.37:g.127461256C>T	ENSP00000357798:p.Arg254His	NA	Q5VZP9|Q8NG02	37	CCDS7647.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.389139	0.25118	.	.	ENSG00000154485	ENST00000368808	T	0.17854	2.25	4.51	0.116	0.14647	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.522000	0.20933	N	0.083075	T	0.09379	0.0231	L	0.32530	0.975	0.37047	D	0.897399	B	0.15141	0.012	B	0.14023	0.01	T	0.20505	-1.0273	10	0.25106	T	0.35	-19.268	2.7793	0.05356	0.3403:0.3532:0.0:0.3065	.	254	Q8N119	MMP21_HUMAN	H	254	ENSP00000357798:R254H	ENSP00000357798:R254H	R	-	2	0	MMP21	127451246	0.999000	0.42202	1.000000	0.80357	0.952000	0.60782	0.563000	0.23547	0.150000	0.19136	0.561000	0.74099	CGC	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050928.1		-	ENST00000368808.3	Missense_Mutation	SNP	10 : 127461256 - 127461256 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	355	73
EPX	8288	broad.mit.edu	37	17	56274612	56274612	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56274612C>A	ENST00000225371.5	+	7	1224	c.1114C>A	c.(1114-1116)Ctg>Atg	p.L372M		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	372					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CCCCTGCTTCCTGGCAGGTCA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	46	45			NA	NA	17		NA											NA				56274612		2203	4300	6503	SO:0001583	missense			M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	8288	8288	1.11.1.7		3423	protein-coding gene	gene with protein product		131399			NA	2550461, 2541222	Standard	NM_000502	NM_000502	NA	Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1114C>A	17.37:g.56274612C>A	ENSP00000225371:p.Leu372Met	NA	Q4TVP3	37	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.961240	0.53400	.	.	ENSG00000121053	ENST00000225371	T	0.75154	-0.91	4.86	3.9	0.45041	.	0.304053	0.31438	N	0.007660	D	0.83695	0.5310	M	0.80183	2.485	0.43149	D	0.994916	D	0.76494	0.999	D	0.72982	0.979	D	0.83894	0.0286	10	0.59425	D	0.04	-8.0465	7.8255	0.29313	0.0:0.8096:0.0:0.1904	.	372	P11678	PERE_HUMAN	M	372	ENSP00000225371:L372M	ENSP00000225371:L372M	L	+	1	2	EPX	53629611	0.405000	0.25336	1.000000	0.80357	0.974000	0.67602	0.042000	0.13949	1.185000	0.42971	0.462000	0.41574	CTG	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443367.1		+	ENST00000225371.5	Missense_Mutation	SNP	17 : 56274612 - 56274612 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	372	43
RBP4	5950	broad.mit.edu	37	10	95353756	95353756	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:95353756G>A	ENST00000371467.1	-	5	711	c.392C>T	c.(391-393)aCg>aTg	p.T131M	RBP4_ENST00000371469.2_Missense_Mutation_p.T129M|RBP4_ENST00000371464.3_Missense_Mutation_p.T131M|FFAR4_ENST00000604414.1_Intron			P02753	RET4_HUMAN	retinol binding protein 4, plasma	131					cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	CACGGCATACGTGTCGTAGTC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(5;160 256 1117 46697 50185)							NA				0													157	111	126			NA	NA	10		NA											NA				95353756		2203	4300	6503	SO:0001583	missense			BC020633	CCDS31249.1	10q23.33	2014-01-22	2001-11-28		ENSG00000138207	ENSG00000138207	5950	5950		Lipocalins	9922	protein-coding gene	gene with protein product		180250	retinol-binding protein 4, plasma		NA		Standard	NM_006744	XM_005270023	NA	Approved		uc001kit.3	P02753	OTTHUMG00000018773	ENST00000371467.1:c.392C>T	10.37:g.95353756G>A	ENSP00000360522:p.Thr131Met	NA	D3DR38|O43478|O43479|Q5VY24|Q8WWA3|Q9P178	37	CCDS31249.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480046	0.84747	.	.	ENSG00000138207	ENST00000371464;ENST00000371469;ENST00000371467;ENST00000371463	D;D	0.83250	-1.7;-1.7	5.82	5.82	0.92795	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.044055	0.85682	D	0.000000	D	0.90352	0.6981	M	0.67953	2.075	0.53005	D	0.999966	D	0.89917	1.0	D	0.66497	0.944	D	0.90539	0.4501	10	0.87932	D	0	-28.7418	20.0851	0.97797	0.0:0.0:1.0:0.0	.	131	P02753	RET4_HUMAN	M	131;129;131;129	ENSP00000360519:T131M;ENSP00000360522:T131M	ENSP00000360518:T129M	T	-	2	0	RBP4	95343746	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	5.843000	0.69424	2.743000	0.94032	0.563000	0.77884	ACG	RBP4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049431.1		-	ENST00000371467.1	Missense_Mutation	SNP	10 : 95353756 - 95353756 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	414	88
PARP8	79668	broad.mit.edu	37	5	50091153	50091153	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:50091153C>T	ENST00000281631.5	+	12	1488	c.1330C>T	c.(1330-1332)Ctt>Ttt	p.L444F	PARP8_ENST00000514342.2_Missense_Mutation_p.L197F|PARP8_ENST00000505554.1_Missense_Mutation_p.L423F|PARP8_ENST00000514067.2_Missense_Mutation_p.L444F|PARP8_ENST00000505697.2_Missense_Mutation_p.L444F|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503750.2_Missense_Mutation_p.L444F	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	444						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CAAAACTGAGCTTTTCAAGGA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	86	85			NA	NA	5		NA											NA				50091153		2203	4300	6503	SO:0001583	missense			AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883	79668	79668		Poly (ADP-ribose) polymerases	26124	protein-coding gene	gene with protein product					NA	15273990	Standard	NM_024615	NM_001178055	NA	Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1330C>T	5.37:g.50091153C>T	ENSP00000281631:p.Leu444Phe	NA	Q3KRB7|Q6DHZ1|Q9H754	37	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672488	0.47781	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	.	.	.	5.45	4.56	0.56223	.	0.323692	0.29205	N	0.012822	T	0.19485	0.0468	N	0.08118	0	0.30756	N	0.74455	B;P;B	0.43701	0.177;0.815;0.437	B;B;B	0.37047	0.068;0.24;0.068	T	0.04203	-1.0969	8	.	.	.	-5.7094	15.8371	0.78808	0.1369:0.8631:0.0:0.0	.	336;444;444	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	F	444;444;197;444;444;423;197;197	.	.	L	+	1	0	PARP8	50126910	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.495000	0.22483	1.379000	0.46325	0.650000	0.86243	CTT	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214035.3		+	ENST00000281631.5	Missense_Mutation	SNP	5 : 50091153 - 50091153 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	505	79
CCL21	6366	broad.mit.edu	37	9	34709608	34709608	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34709608A>T	ENST00000259607.2	-	3	317	c.260T>A	c.(259-261)aTg>aAg	p.M87K	CCL21_ENST00000378792.1_Missense_Mutation_p.M87K	NM_002989.2	NP_002980.1	O00585	CCL21_HUMAN	chemokine (C-C motif) ligand 21	87					activation of Rho GTPase activity|cell maturation|cell-cell signaling|dendritic cell chemotaxis|dendritic cell dendrite assembly|establishment of T cell polarity|immune response|immunological synapse formation|inflammatory response|mesangial cell-matrix adhesion|negative regulation of leukocyte apoptosis|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of cell-matrix adhesion|positive regulation of dendritic cell antigen processing and presentation|positive regulation of ERK1 and ERK2 cascade|positive regulation of filopodium assembly|positive regulation of glycoprotein biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of myeloid dendritic cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of pseudopodium assembly|positive regulation of receptor-mediated endocytosis|release of sequestered calcium ion into cytosol|response to prostaglandin E stimulus|ruffle organization|T cell costimulation	extracellular space	CCR7 chemokine receptor binding|chemokine activity			large_intestine(4)	4	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		CAGATGCTGCATCAGCTGCTG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	53	53			NA	NA	9		NA											NA				34709608		2203	4300	6503	SO:0001583	missense			AB002409	CCDS6571.1	9p13	2014-05-16	2002-08-22	2002-08-23	ENSG00000137077	ENSG00000137077	6366	6366		Chemokine ligands, Endogenous ligands	10620	protein-coding gene	gene with protein product	beta chemokine exodus-2, secondary lymphoid tissue chemokine, Efficient Chemoattractant for Lymphocytes	602737	small inducible cytokine subfamily A (Cys-Cys), member 21	SCYA21	NA	9235955	Standard	NM_002989	NM_002989	NA	Approved	SLC, exodus-2, TCA4, CKb9, 6Ckine, ECL	uc003zvo.4	O00585	OTTHUMG00000019838	ENST00000259607.2:c.260T>A	9.37:g.34709608A>T	ENSP00000259607:p.Met87Lys	NA		37	CCDS6571.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.505179	0.85282	.	.	ENSG00000137077	ENST00000259607;ENST00000378792	T;T	0.06449	3.3;3.3	5.51	5.51	0.81932	Chemokine interleukin-8-like domain (3);	0.085402	0.51477	D	0.000087	T	0.21267	0.0512	M	0.81239	2.535	0.44976	D	0.997993	D	0.59357	0.985	P	0.57620	0.824	T	0.00433	-1.1742	10	0.87932	D	0	-29.6242	12.2957	0.54844	1.0:0.0:0.0:0.0	.	87	O00585	CCL21_HUMAN	K	87	ENSP00000259607:M87K;ENSP00000368069:M87K	ENSP00000259607:M87K	M	-	2	0	CCL21	34699608	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	4.071000	0.57556	2.212000	0.71576	0.528000	0.53228	ATG	CCL21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052245.1		-	ENST00000259607.2	Missense_Mutation	SNP	9 : 34709608 - 34709608 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	293	70
BHMT2	23743	broad.mit.edu	37	5	78376548	78376548	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78376548G>T	ENST00000521567.1	+	3	274				DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000255192.3_Missense_Mutation_p.R99S	NM_001178005.1	NP_001171476.1	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	NA					methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	ACCTCGCCAGGGAAGTGGCTG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	115	114			NA	NA	5		NA											NA				78376548		2203	4300	6503	SO:0001627	intron_variant				CCDS4045.1, CCDS54871.1	5q13	2010-04-28	2010-04-28		ENSG00000132840	ENSG00000132840	23743	23743	2.1.1.5		1048	protein-coding gene	gene with protein product		605932			NA	11087663, 18230605	Standard	NM_017614	NM_017614	NA	Approved		uc003kft.3	Q9H2M3	OTTHUMG00000108158	ENST00000521567.1:c.258+1265G>T	5.37:g.78376548G>T		NA	Q9NXX7	37	CCDS54871.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.088877	0.55968	.	.	ENSG00000132840	ENST00000255192;ENST00000518666	T;T	0.40476	1.03;1.03	6.16	1.31	0.21738	Homocysteine S-methyltransferase (4);	0.151545	0.56097	D	0.000024	T	0.45054	0.1323	M	0.79693	2.465	0.80722	D	1	B	0.31519	0.327	B	0.35607	0.206	T	0.43196	-0.9406	10	0.66056	D	0.02	-7.7479	9.095	0.36634	0.6855:0.0:0.3145:0.0	.	99	Q9H2M3	BHMT2_HUMAN	S	99;39	ENSP00000255192:R99S;ENSP00000428640:R39S	ENSP00000255192:R99S	R	+	3	2	BHMT2	78412304	1.000000	0.71417	0.945000	0.38365	0.881000	0.50899	1.262000	0.32992	0.123000	0.18342	0.650000	0.86243	AGG	BHMT2-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370819.1		+	ENST00000521567.1	Intron	SNP	5 : 78376548 - 78376548 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	569	121
MYEOV2	150678	broad.mit.edu	37	2	241073376	241073376	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241073376T>G	ENST00000307266.3	-	2	202	c.203A>C	c.(202-204)aAg>aCg	p.K68T	MYEOV2_ENST00000489698.1_5'UTR|MYEOV2_ENST00000607357.1_Missense_Mutation_p.K37T	NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	37										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		ATGAACGGCCTTTTCATTGGC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	127	126			NA	NA	2		NA											NA				241073376		2203	4300	6503	SO:0001583	missense			AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428	150678	150678			21314	protein-coding gene	gene with protein product					NA		Standard	NM_138336	NM_138336	NA	Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352	ENST00000307266.3:c.203A>C	2.37:g.241073376T>G	ENSP00000304147:p.Lys68Thr	NA	Q8N110	37	CCDS2532.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.280652	0.80692	.	.	ENSG00000172428	ENST00000307266;ENST00000403160	.	.	.	4.55	4.55	0.56014	.	0.000000	0.85682	U	0.000000	T	0.77705	0.4170	.	.	.	0.80722	D	1	D;D	0.67145	0.968;0.996	D;D	0.75484	0.969;0.986	T	0.80828	-0.1208	8	0.87932	D	0	-11.1793	12.1591	0.54093	0.0:0.0:0.0:1.0	.	37;68	Q8WXC6;Q8WXC6-1	MYOV2_HUMAN;.	T	68;58	.	ENSP00000304147:K68T	K	-	2	0	MYEOV2	240722049	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	6.262000	0.72514	1.817000	0.53016	0.528000	0.53228	AAG	MYEOV2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257182.2		-	ENST00000307266.3	Missense_Mutation	SNP	2 : 241073376 - 241073376 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	675	102
MARK2	2011	broad.mit.edu	37	11	63667527	63667527	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63667527T>C	ENST00000509502.2	+	8	1077	c.614T>C	c.(613-615)gTt>gCt	p.V205A	MARK2_ENST00000361128.5_Missense_Mutation_p.V238A|MARK2_ENST00000408948.3_Missense_Mutation_p.V205A|MARK2_ENST00000425897.2_Missense_Mutation_p.V205A|MARK2_ENST00000502399.3_Missense_Mutation_p.V238A|MARK2_ENST00000513765.2_Missense_Mutation_p.V205A|MARK2_ENST00000377809.4_Missense_Mutation_p.V238A|MARK2_ENST00000315032.8_Missense_Mutation_p.V238A|MARK2_ENST00000402010.2_Missense_Mutation_p.V238A|MARK2_ENST00000377810.3_Missense_Mutation_p.V205A|MARK2_ENST00000413835.2_Missense_Mutation_p.V238A|MARK2_ENST00000350490.7_Missense_Mutation_p.V238A|MARK2_ENST00000508192.1_Missense_Mutation_p.V238A	NM_017490.3	NP_059672.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	238	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						AGCCTAGGAGTTATCCTCTAT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	176	172			NA	NA	11		NA											NA				63667527		2201	4297	6498	SO:0001583	missense			BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518	2011	2011			3332	protein-coding gene	gene with protein product	ELKL motif kinase 1, serine/threonine kinase, protein-serine/threonine kinase, Ser/Thr protein kinase PAR-1B	600526	ELKL motif kinase	EMK1	NA	9730619, 10516437	Standard	NM_017490	NM_017490	NA	Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.614T>C	11.37:g.63667527T>C	ENSP00000423974:p.Val205Ala	NA	Q15449|Q15524|Q5XGA3|Q68A18|Q96HB3|Q96RG0	37	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	t	29.0	4.966610	0.92855	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51	5.47	5.47	0.80525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.54143	0.1840	M	0.66378	2.025	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.986;0.999;0.994;0.999;0.998	T	0.57266	-0.7841	10	0.87932	D	0	.	14.7005	0.69152	0.0:0.0:0.0:1.0	.	205;205;238;238;238;238	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	A	238;238;238;238;205;238;238;238;238;205;205;205;205	ENSP00000385751:V238A;ENSP00000326632:V238A;ENSP00000367040:V238A;ENSP00000389184:V238A;ENSP00000367041:V205A;ENSP00000425765:V238A;ENSP00000355091:V238A;ENSP00000294247:V238A;ENSP00000423974:V205A;ENSP00000421075:V205A;ENSP00000386128:V205A;ENSP00000415494:V205A	ENSP00000326632:V238A	V	+	2	0	MARK2	63424103	1.000000	0.71417	0.984000	0.44739	0.993000	0.82548	7.865000	0.87049	2.301000	0.77427	0.524000	0.50904	GTT	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360862.2		+	ENST00000509502.2	Missense_Mutation	SNP	11 : 63667527 - 63667527 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1081	197
KRI1	65095	broad.mit.edu	37	19	10672384	10672384	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10672384C>T	ENST00000312962.6	-	6	484	c.465G>A	c.(463-465)tcG>tcA	p.S155S	KRI1_ENST00000537964.1_5'UTR|KRI1_ENST00000361821.5_Silent_p.S151S	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	155	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			AACTTTGCGACGATGTCTCCT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	142	143			NA	NA	19		NA											NA				10672384		2203	4300	6503	SO:0001819	synonymous_variant				CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347	65095	65095			25769	protein-coding gene	gene with protein product					NA	12878157	Standard	NM_023008	NM_023008	NA	Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.465G>A	19.37:g.10672384C>T		NA	Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	37	CCDS12242.1	.	.	.	.	.	.	.	.	.	.	C	2.214	-0.379965	0.05000	.	.	ENSG00000129347	ENST00000543682	.	.	.	3.7	-2.84	0.05751	.	.	.	.	.	T	0.27663	0.0680	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.31052	-0.9957	4	.	.	.	-2.2623	5.8817	0.18858	0.0:0.4384:0.2387:0.3229	.	.	.	.	H	93	.	.	R	-	2	0	KRI1	10533384	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.565000	0.00918	-0.676000	0.05238	-2.893000	0.00094	CGT	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317705.1		-	ENST00000312962.6	Silent	SNP	19 : 10672384 - 10672384 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1045	206
YRDC	79693	broad.mit.edu	37	1	38272774	38272774	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38272774G>A	ENST00000373044.2	-	2	507	c.503C>T	c.(502-504)cCt>cTt	p.P168L	C1orf122_ENST00000373043.1_5'UTR	NM_024640.3	NP_078916.3	Q86U90	YRDC_HUMAN	yrdC N(6)-threonylcarbamoyltransferase domain containing	168	YrdC-like.				negative regulation of transport	membrane|mitochondrion				lung(2)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTGACTCACAGGCGTAAAAGG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	94	94			NA	NA	1		NA											NA				38272774		2203	4300	6503	SO:0001630	splice_region_variant				CCDS30675.1	1p34.3	2013-09-12	2013-09-12		ENSG00000196449	ENSG00000196449	79693	79693			28905	protein-coding gene	gene with protein product	ischemia/reperfusion inducible protein	612276	yrdC domain containing (E.coli), yrdC domain containing (E. coli)		NA	12730717	Standard	NM_024640	NM_024640	NA	Approved	FLJ23476, IRIP, SUA5	uc001cca.1	Q86U90	OTTHUMG00000004318	ENST00000373044.2:c.504+1C>T	1.37:g.38272774G>A		NA	Q4W4X8|Q6NVW3|Q7L4E4|Q7Z2I4|Q9H5F8	37	CCDS30675.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.292376	0.23564	.	.	ENSG00000196449	ENST00000373044	.	.	.	4.96	2.01	0.26516	DHBP synthase RibB-like alpha/beta domain (2);Sua5/YciO/YrdC, N-terminal (2);Sua5/YciO/YrdC/YwlC (1);	0.418875	0.26847	N	0.022194	T	0.61022	0.2314	M	0.78285	2.405	0.47698	D	0.999497	B	0.11235	0.004	B	0.19666	0.026	T	0.57335	-0.7829	9	0.54805	T	0.06	.	10.0128	0.41997	0.0724:0.259:0.6685:0.0	.	168	Q86U90	YRDC_HUMAN	L	168	.	ENSP00000362135:P168L	P	-	2	0	YRDC	38045361	0.999000	0.42202	0.991000	0.47740	0.273000	0.26683	3.742000	0.55097	0.134000	0.18681	-0.251000	0.11542	CCT	YRDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000012470.1	Missense_Mutation	-	ENST00000373044.2	Splice_Site	SNP	1 : 38272774 - 38272774 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	54
ERCC6-PGBD3	101243544	broad.mit.edu	37	10	50724850	50724850	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50724850C>A	ENST00000515869.1	-	6	1835	c.1715G>T	c.(1714-1716)aGg>aTg	p.R572M	PGBD3_ENST00000508005.2_Missense_Mutation_p.R104M|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.R572M|PGBD3_ENST00000374127.3_Missense_Mutation_p.R104M|ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000603152.1_Missense_Mutation_p.R572M	NM_001277059.1	NP_001263988.1			ERCC6-PGBD3 readthrough	NA											NA						CATTTTCCTCCTCCTTGATGG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	113	115			NA	NA	10		NA											NA				50724850		2203	4300	6503	SO:0001583	missense				CCDS60529.1	10q11.23	2013-05-10			ENSG00000258838	ENSG00000258838	101243544	101243544			48347	other	readthrough					NA		Standard		NM_001277058	NA	Approved				OTTHUMG00000171334	ENST00000515869.1:c.1715G>T	10.37:g.50724850C>A	ENSP00000423550:p.Arg572Met	NA		37		.	.	.	.	.	.	.	.	.	.	C	7.302	0.613294	0.14066	.	.	ENSG00000243251;ENSG00000243251;ENSG00000258838;ENSG00000258838	ENST00000374127;ENST00000508005;ENST00000515869;ENST00000447839	T;T;T;T	0.18502	2.21;2.21;3.13;3.13	0.468	-0.558	0.11796	.	.	.	.	.	T	0.06600	0.0169	N	0.08118	0	0.21220	N	0.999754	P;B	0.50819	0.939;0.004	B;B	0.38880	0.284;0.0	T	0.25882	-1.0119	8	0.46703	T	0.11	-28.964	.	.	.	.	572;104	E7EV46;Q8N328	.;PGBD3_HUMAN	M	104;104;572;572	ENSP00000363242:R104M;ENSP00000426963:R104M;ENSP00000423550:R572M;ENSP00000387966:R572M	ENSP00000387966:R572M	R	-	2	0	PGBD3;RP11-123B3.6	50394856	0.960000	0.32886	0.042000	0.18584	0.037000	0.13140	0.100000	0.15231	-0.344000	0.08338	-0.339000	0.08088	AGG	ERCC6-PGBD3-001	NOVEL	basic|appris_principal|readthrough_transcript	protein_coding	NA	protein_coding	OTTHUMT00000413019.1		-	ENST00000515869.1	Missense_Mutation	SNP	10 : 50724850 - 50724850 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	597	121
ERBB2IP	55914	broad.mit.edu	37	5	65324108	65324108	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:65324108G>T	ENST00000511297.1	+	14	1280	c.1143G>T	c.(1141-1143)aaG>aaT	p.K381N	ERBB2IP_ENST00000416865.2_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.K381N|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.K381N|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000284037.5_Missense_Mutation_p.K381N			Q96RT1	LAP2_HUMAN	erbb2 interacting protein	381					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		ACAGATTAAAGAATTTACCCT	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	65	65			NA	NA	5		NA											NA				65324108		2202	4299	6501	SO:0001583	missense				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851	55914	55914			15842	protein-coding gene	gene with protein product	densin-180-like protein, ERBB2-interacting protein	606944	erbb2-interacting protein		NA	10574462, 10878805	Standard	NM_018695	NM_001253697	NA	Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000511297.1:c.1143G>T	5.37:g.65324108G>T	ENSP00000422766:p.Lys381Asn	NA	Q86W38|Q9NR18|Q9NW48|Q9ULJ5	37	CCDS58951.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.119212	0.56505	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T;T	0.59638	0.25;0.25;2.32;0.25;0.25;0.25;0.25;0.25;0.25;0.25	5.65	3.78	0.43462	.	0.134464	0.64402	D	0.000002	T	0.60117	0.2244	N	0.20357	0.565	0.44890	D	0.997901	P;P;P;P;D;D;P;D	0.89917	0.624;0.915;0.627;0.931;1.0;0.991;0.593;1.0	B;P;B;P;D;P;B;D	0.91635	0.42;0.763;0.348;0.848;0.999;0.864;0.295;0.997	T	0.62025	-0.6941	10	0.72032	D	0.01	.	10.39	0.44162	0.221:0.0:0.779:0.0	.	381;381;381;381;381;381;381;381	B4DIP2;Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;.;LAP2_HUMAN;.;.	N	381	ENSP00000284037:K381N;ENSP00000370330:K381N;ENSP00000397833:K381N;ENSP00000370326:K381N;ENSP00000370323:K381N;ENSP00000370322:K381N;ENSP00000370325:K381N;ENSP00000422766:K381N;ENSP00000426632:K381N;ENSP00000422015:K381N	ENSP00000284037:K381N	K	+	3	2	ERBB2IP	65359864	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	4.542000	0.60677	0.662000	0.31006	-0.244000	0.11960	AAG	ERBB2IP-006	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368829.1		+	ENST00000511297.1	Missense_Mutation	SNP	5 : 65324108 - 65324108 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	181	19
C11orf94	143678	broad.mit.edu	37	11	45928432	45928432	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45928432C>T	ENST00000449465.1	-	2	199	c.163G>A	c.(163-165)Ggc>Agc	p.G55S		NM_001080446.2	NP_001073915.2	C9JXX5	CK094_HUMAN	chromosome 11 open reading frame 94	55						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1)	7						TCCACCAGGCCGGAAAGTGGC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	81	77			NA	NA	11		NA											NA				45928432		2017	4165	6182	SO:0001583	missense				CCDS44577.1	11p11.2	2012-08-10			ENSG00000234776	ENSG00000234776	143678	143678			37213	protein-coding gene	gene with protein product					NA		Standard	NM_001080446	NM_001080446	NA	Approved		uc001nbs.4	C9JXX5	OTTHUMG00000167004	ENST00000449465.1:c.163G>A	11.37:g.45928432C>T	ENSP00000401498:p.Gly55Ser	NA		37	CCDS44577.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832458	0.50845	.	.	ENSG00000234776	ENST00000449465	T	0.54675	0.56	4.73	2.84	0.33178	.	.	.	.	.	T	0.41119	0.1145	.	.	.	0.27540	N	0.950833	P	0.38020	0.615	B	0.33121	0.158	T	0.26710	-1.0095	8	0.87932	D	0	-4.7454	9.5199	0.39129	0.0:0.8542:0.0:0.1458	.	55	C9JXX5	CK094_HUMAN	S	55	ENSP00000401498:G55S	ENSP00000401498:G55S	G	-	1	0	C11orf94	45885008	0.897000	0.30589	0.264000	0.24511	0.265000	0.26407	1.715000	0.37971	0.422000	0.26005	0.591000	0.81541	GGC	C11orf94-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392395.1		-	ENST00000449465.1	Missense_Mutation	SNP	11 : 45928432 - 45928432 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	575	85
GCM2	9247	broad.mit.edu	37	6	10877453	10877453	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10877453G>A	ENST00000379491.4	-	2	410	c.263C>T	c.(262-264)aCa>aTa	p.T88I	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	88					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GCAGGCCTGTGTACACACCAC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	78	84			NA	NA	6		NA											NA				10877453		2203	4300	6503	SO:0001583	missense			AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827	9247	9247			4198	protein-coding gene	gene with protein product		603716	glial cells missing (Drosophila) homolog b	GCMB	NA	9928992	Standard		NM_004752	NA	Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.263C>T	6.37:g.10877453G>A	ENSP00000368805:p.Thr88Ile	NA	Q5THN5	37	CCDS4517.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.362783	0.41902	.	.	ENSG00000124827	ENST00000379491	T	0.74526	-0.85	5.69	3.91	0.45181	.	0.421727	0.30732	N	0.009000	T	0.40272	0.1110	N	0.19112	0.55	0.46678	D	0.999157	B	0.18013	0.025	B	0.18871	0.023	T	0.41161	-0.9524	10	0.59425	D	0.04	-0.6723	6.5058	0.22194	0.0688:0.1309:0.6643:0.136	.	88	O75603	GCM2_HUMAN	I	88	ENSP00000368805:T88I	ENSP00000368805:T88I	T	-	2	0	GCM2	10985439	0.714000	0.27936	0.033000	0.17914	0.873000	0.50193	4.669000	0.61575	0.754000	0.32968	0.650000	0.86243	ACA	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039844.1		-	ENST00000379491.4	Missense_Mutation	SNP	6 : 10877453 - 10877453 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	460	85
PLOD2	5352	broad.mit.edu	37	3	145803071	145803071	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:145803071A>C	ENST00000461497.1	-	1	605	c.97T>G	c.(97-99)Ttc>Gtc	p.F33V	PLOD2_ENST00000282903.5_Intron|PLOD2_ENST00000494950.1_Intron|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000360060.3_Intron			O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	0					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	CTAACAGTGAAAAAGAAAATG	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	45	45			NA	NA	3		NA											NA				145803071		2201	4298	6499	SO:0001583	missense			U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952	5352	5352			9082	protein-coding gene	gene with protein product	lysyl hydroxlase 2	601865	procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2		NA	9054364	Standard	NM_000935	XM_005247535	NA	Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000461497.1:c.97T>G	3.37:g.145803071A>C	ENSP00000419354:p.Phe33Val	NA	Q59ED2|Q8N170	37		.	.	.	.	.	.	.	.	.	.	A	7.585	0.669571	0.14776	.	.	ENSG00000152952	ENST00000461497	D	0.89617	-2.54	5.59	-0.33	0.12683	.	.	.	.	.	T	0.78207	0.4247	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.61869	-0.6974	8	0.21540	T	0.41	.	6.4656	0.21980	0.4409:0.3824:0.1766:0.0	.	33	B3KWS3	.	V	33	ENSP00000419354:F33V	ENSP00000419354:F33V	F	-	1	0	PLOD2	147285761	1.000000	0.71417	0.023000	0.16930	0.003000	0.03518	1.203000	0.32284	0.020000	0.15106	-0.408000	0.06270	TTC	PLOD2-005	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000355188.1		-	ENST00000461497.1	Missense_Mutation	SNP	3 : 145803071 - 145803071 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	189	39
VPS13C	54832	broad.mit.edu	37	15	62283994	62283994	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:62283994C>A	ENST00000261517.5	-	17	1434	c.1361G>T	c.(1360-1362)cGg>cTg	p.R454L	VPS13C_ENST00000395896.4_Missense_Mutation_p.R454L|VPS13C_ENST00000249837.3_Missense_Mutation_p.R411L|VPS13C_ENST00000395898.3_Missense_Mutation_p.R411L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	454					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTGCCCAGACCGAATCACCTG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	119	117			NA	NA	15		NA											NA				62283994		2203	4300	6503	SO:0001583	missense			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003	54832	54832			23594	protein-coding gene	gene with protein product		608879	vacuolar protein sorting 13C (yeast)		NA		Standard	NM_017684	NM_018080	NA	Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.1361G>T	15.37:g.62283994C>A	ENSP00000261517:p.Arg454Leu	NA	Q6ISR4|Q702P2|Q702P3|Q709C9|Q9NXN8|Q9P2C6	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.639418	0.87760	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.49139	0.79;0.79;0.95	5.78	4.86	0.63082	.	0.078555	0.48767	D	0.000166	T	0.56426	0.1984	M	0.69823	2.125	0.53688	D	0.999978	P;P;P;P	0.47350	0.894;0.798;0.798;0.696	P;P;B;B	0.48425	0.577;0.577;0.392;0.3	T	0.62163	-0.6912	10	0.66056	D	0.02	.	13.9353	0.64021	0.0:0.9261:0.0:0.0738	.	411;454;411;454	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	L	411;454;454;454	ENSP00000249837:R411L;ENSP00000261517:R454L;ENSP00000379233:R454L	ENSP00000249837:R411L	R	-	2	0	VPS13C	60071286	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	4.735000	0.62051	1.420000	0.47138	0.591000	0.81541	CGG	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415997.1		-	ENST00000261517.5	Missense_Mutation	SNP	15 : 62283994 - 62283994 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	760	84
PPARGC1A	10891	broad.mit.edu	37	4	23815518	23815518	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:23815518A>T	ENST00000264867.2	-	8	1707	c.1588T>A	c.(1588-1590)Tcc>Acc	p.S530T	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	530					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AATGAATAGGATTGCGTGCCA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(29;694 744 13796 34866 44181)							NA				0													146	139	142			NA	NA	4		NA											NA				23815518		2203	4300	6503	SO:0001583	missense			AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819	10891	10891		RNA binding motif (RRM) containing	9237	protein-coding gene	gene with protein product		604517	peroxisome proliferative activated receptor, gamma, coactivator 1, peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	PPARGC1	NA	10585775	Standard	NM_013261	NM_013261	NA	Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1588T>A	4.37:g.23815518A>T	ENSP00000264867:p.Ser530Thr	NA	Q9UN32	37	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	A	11.37	1.618834	0.28801	.	.	ENSG00000109819	ENST00000264867	T	0.22539	1.95	6.16	3.67	0.42095	.	0.316917	0.38272	N	0.001760	T	0.15262	0.0368	L	0.55481	1.735	0.80722	D	1	P	0.39782	0.688	B	0.33750	0.169	T	0.08806	-1.0704	10	0.15066	T	0.55	-0.2608	7.3919	0.26915	0.712:0.1518:0.1362:0.0	.	530	Q9UBK2	PRGC1_HUMAN	T	530	ENSP00000264867:S530T	ENSP00000264867:S530T	S	-	1	0	PPARGC1A	23424616	0.469000	0.25846	0.716000	0.30569	0.992000	0.81027	0.998000	0.29744	0.532000	0.28657	0.528000	0.53228	TCC	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214976.1		-	ENST00000264867.2	Missense_Mutation	SNP	4 : 23815518 - 23815518 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	666	118
CDCA5	113130	broad.mit.edu	37	11	64846905	64846905	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64846905C>T	ENST00000275517.3	-	5	770	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	CDCA5_ENST00000404147.3_Missense_Mutation_p.A200T	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	200					cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						ATGTCTGGGGCCCAGGGCTTT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	77	75			NA	NA	11		NA											NA				64846905		2201	4297	6498	SO:0001583	missense			BG354578	CCDS8091.1	11q13.1	2011-01-31			ENSG00000146670	ENSG00000146670	113130	113130			14626	protein-coding gene	gene with protein product	sororin	609374			NA	12188893, 15837422	Standard	NM_080668	NM_080668	NA	Approved		uc001ocp.2	Q96FF9	OTTHUMG00000150420	ENST00000275517.3:c.598G>A	11.37:g.64846905C>T	ENSP00000275517:p.Ala200Thr	NA	A8K625	37	CCDS8091.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.661948	0.47572	.	.	ENSG00000146670	ENST00000275517;ENST00000404147	T;T	0.43688	0.94;0.94	5.29	-0.127	0.13510	.	0.451135	0.23805	N	0.044381	T	0.34542	0.0901	L	0.57536	1.79	0.09310	N	1	P	0.39352	0.669	B	0.38106	0.265	T	0.19582	-1.0301	10	0.33141	T	0.24	.	9.3783	0.38297	0.0:0.5908:0.0:0.4092	.	200	Q96FF9	CDCA5_HUMAN	T	200	ENSP00000275517:A200T;ENSP00000385711:A200T	ENSP00000275517:A200T	A	-	1	0	CDCA5	64603481	0.172000	0.23043	0.032000	0.17829	0.676000	0.39594	0.288000	0.18939	-0.032000	0.13758	-0.151000	0.13558	GCC	CDCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385186.1		-	ENST00000275517.3	Missense_Mutation	SNP	11 : 64846905 - 64846905 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	413	80
CAPN15	6650	broad.mit.edu	37	16	599006	599006	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:599006T>G	ENST00000219611.2	+	5	1826	c.1463T>G	c.(1462-1464)tTc>tGc	p.F488C	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1			calpain 15	NA											NA						AATGTGAGCTTCGTGGATGAC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	97	104			NA	NA	16		NA											NA				599006		2199	4297	6496	SO:0001583	missense			U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326	6650	6650			11182	protein-coding gene	gene with protein product		603267	small optic lobes (Drosophila) homolog, small optic lobes homolog (Drosophila)	SOLH	NA	9722942	Standard	NM_005632	NM_005632	NA	Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.1463T>G	16.37:g.599006T>G	ENSP00000219611:p.Phe488Cys	NA		37	CCDS10410.1	.	.	.	.	.	.	.	.	.	.	t	17.40	3.381250	0.61845	.	.	ENSG00000103326	ENST00000219611	T	0.66995	-0.24	5.04	5.04	0.67666	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.87712	0.6246	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91711	0.5381	10	0.87932	D	0	.	13.6292	0.62186	0.0:0.0:0.0:1.0	.	488	O75808	CAN15_HUMAN	C	488	ENSP00000219611:F488C	ENSP00000219611:F488C	F	+	2	0	SOLH	539007	1.000000	0.71417	0.970000	0.41538	0.304000	0.27724	7.777000	0.85628	1.903000	0.55091	0.454000	0.30748	TTC	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239271.1		+	ENST00000219611.2	Missense_Mutation	SNP	16 : 599006 - 599006 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	790	133
C6orf118	168090	broad.mit.edu	37	6	165715084	165715084	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165715084C>T	ENST00000230301.8	-	2	747	c.727G>A	c.(727-729)Gcg>Acg	p.A243T	C6orf118_ENST00000543069.1_Missense_Mutation_p.A139T	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	243										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TCGTGGCCCGCGGCCGCCTTG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	53	52			NA	NA	6		NA											NA				165715084		2203	4300	6503	SO:0001583	missense				CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539	168090	168090			21233	protein-coding gene	gene with protein product					NA		Standard	NM_144980	NM_144980	NA	Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.727G>A	6.37:g.165715084C>T	ENSP00000230301:p.Ala243Thr	NA	Q8TC11	37	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	C	8.376	0.836530	0.16891	.	.	ENSG00000112539	ENST00000230301;ENST00000543069	T;T	0.13901	2.55;2.55	4.92	-9.32	0.00643	.	3.383220	0.00839	N	0.001730	T	0.01124	0.0037	N	0.03608	-0.345	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.25984	-1.0116	10	0.14656	T	0.56	0.9594	7.83	0.29336	0.0:0.2349:0.4167:0.3484	.	243	Q5T5N4	CF118_HUMAN	T	243;139	ENSP00000230301:A243T;ENSP00000439288:A139T	ENSP00000230301:A243T	A	-	1	0	C6orf118	165635074	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.956000	0.01522	-2.139000	0.00807	-1.239000	0.01543	GCG	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043026.1		-	ENST00000230301.8	Missense_Mutation	SNP	6 : 165715084 - 165715084 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	475	77
AP4B1	10717	broad.mit.edu	37	1	114445332	114445332	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114445332G>A	ENST00000369569.1	-	2	546	c.266C>T	c.(265-267)aCg>aTg	p.T89M	AP4B1_ENST00000369566.3_Missense_Mutation_p.T89M|AP4B1_ENST00000256658.4_Missense_Mutation_p.T89M|AP4B1_ENST00000369567.1_Intron	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	89					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTGCACAGCGTATTGATGGC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	112	120			NA	NA	1		NA											NA				114445332		2203	4300	6503	SO:0001583	missense			AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262	10717	10717			572	protein-coding gene	gene with protein product	beta 4 subunit of AP-4	607245	spastic paraplegia 47	SPG47	NA	10066790	Standard	NM_006594	NM_006594	NA	Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.266C>T	1.37:g.114445332G>A	ENSP00000358582:p.Thr89Met	NA	Q59EJ4|Q96CL6	37	CCDS865.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983200	0.93044	.	.	ENSG00000134262	ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369571	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.3	5.3	0.74995	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59046	0.2165	M	0.90198	3.095	0.35726	D	0.817514	D;D	0.89917	1.0;1.0	D;D	0.85130	0.953;0.997	T	0.70439	-0.4871	10	0.72032	D	0.01	-6.4216	18.9713	0.92716	0.0:0.0:1.0:0.0	.	89;89	B7Z4X3;Q9Y6B7	.;AP4B1_HUMAN	M	89	ENSP00000358582:T89M;ENSP00000256658:T89M;ENSP00000358579:T89M;ENSP00000358584:T89M	ENSP00000256658:T89M	T	-	2	0	AP4B1	114246855	1.000000	0.71417	0.957000	0.39632	0.989000	0.77384	7.244000	0.78228	2.465000	0.83290	0.655000	0.94253	ACG	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033037.1		-	ENST00000369569.1	Missense_Mutation	SNP	1 : 114445332 - 114445332 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	35
WDR90	197335	broad.mit.edu	37	16	705640	705640	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:705640C>A	ENST00000549091.1	+	16	1878	c.1786C>A	c.(1786-1788)Cgc>Agc	p.R596S	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000293879.4_Missense_Mutation_p.R596S	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	596										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GCGGCATGCCCGCCGCCTGCT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	21	20			NA	NA	16		NA											NA				705640		2169	4262	6431	SO:0001583	missense			AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996	197335	197335		WD repeat domain containing	26960	protein-coding gene	gene with protein product			chromosome 16 open reading frame 17, chromosome 16 open reading frame 15, chromosome 16 open reading frame 16, chromosome 16 open reading frame 19, chromosome 16 open reading frame 18	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18	NA	11572484, 11157797	Standard	NM_145294	XM_005255160	NA	Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000549091.1:c.1786C>A	16.37:g.705640C>A	ENSP00000448122:p.Arg596Ser	NA	Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	37		.	.	.	.	.	.	.	.	.	.	C	14.46	2.541312	0.45280	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.33438	1.44;1.41	4.67	4.67	0.58626	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.64402	U	0.000002	T	0.50582	0.1624	M	0.76328	2.33	0.80722	D	1	D;D;D;D	0.89917	0.998;0.998;0.998;1.0	D;D;D;D	0.70227	0.923;0.919;0.921;0.968	T	0.46005	-0.9222	10	0.23302	T	0.38	.	11.7813	0.52016	0.1755:0.8245:0.0:0.0	.	596;596;597;596	F8VUX9;Q96KV7;C9JMK1;Q96KV7-3	.;WDR90_HUMAN;.;.	S	596	ENSP00000448122:R596S;ENSP00000293879:R596S	ENSP00000293879:R596S	R	+	1	0	WDR90	645641	0.988000	0.35896	0.302000	0.25058	0.141000	0.21300	2.803000	0.47924	2.157000	0.67596	0.561000	0.74099	CGC	WDR90-001	NOVEL	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000109343.3		+	ENST00000549091.1	Missense_Mutation	SNP	16 : 705640 - 705640 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	101	9
LONRF3	79836	broad.mit.edu	37	X	118112410	118112410	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118112410G>A	ENST00000371628.3	+	2	951	c.920G>A	c.(919-921)cGc>cAc	p.R307H	LONRF3_ENST00000422289.2_5'UTR|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000304778.7_Missense_Mutation_p.R307H	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	307					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						TGTAAGCTCCGCCCGATGGGT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	107	112			NA	NA	X		NA											NA				118112410		2203	4300	6503	SO:0001583	missense			AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556	79836	79836		RING-type (C3HC4) zinc fingers	21152	protein-coding gene	gene with protein product			ring finger protein 127	RNF127	NA		Standard	NM_024778	XM_005262476	NA	Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.920G>A	X.37:g.118112410G>A	ENSP00000360690:p.Arg307His	NA	Q5JPN6|Q8NB00|Q9H647	37	CCDS35374.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652612	0.67472	.	.	ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628	T;T;T	0.60171	0.21;0.21;0.21	5.46	4.41	0.53225	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.369547	0.26812	N	0.022377	T	0.52645	0.1747	L	0.29908	0.895	0.80722	D	1	D;D	0.55605	0.964;0.972	P;P	0.53954	0.666;0.738	T	0.54879	-0.8227	10	0.59425	D	0.04	-3.9659	6.1812	0.20472	0.2769:0.0:0.7231:0.0	.	307;307	Q496Y0-2;Q496Y0	.;LONF3_HUMAN	H	307	ENSP00000360691:R307H;ENSP00000307732:R307H;ENSP00000360690:R307H	ENSP00000307732:R307H	R	+	2	0	LONRF3	117996438	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	3.323000	0.52014	2.301000	0.77427	0.600000	0.82982	CGC	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355124.2		+	ENST00000371628.3	Missense_Mutation	SNP	X : 118112410 - 118112410 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	280	66
SCN9A	6335	broad.mit.edu	37	2	167138288	167138288	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167138288G>A	ENST00000409672.1	-	13	2318	c.1972C>T	c.(1972-1974)Cgt>Tgt	p.R658C	SCN9A_ENST00000375387.4_Missense_Mutation_p.R670C|SCN9A_ENST00000409435.1_Missense_Mutation_p.R669C|SCN9A_ENST00000303354.6_Missense_Mutation_p.R670C|AC010127.3_ENST00000447809.2_RNA	NM_002977.3	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	669						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GAACTACAACGCCTTTTCTTG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/ARG	5,3729		0,5,1862	162	155	157		1972	2.7	0.8	2		157	0,8228		0,0,4114	no	missense	SCN9A	NM_002977.3	180	0,5,5976	AA,AG,GG	NA	0.0,0.1339,0.0418	possibly-damaging	658/1978	167138288	5,11957	1867	4114	5981	SO:0001583	missense			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432	6335	6335		Sodium channels, Voltage-gated ion channels / Sodium channels	10597	protein-coding gene	gene with protein product		603415	sodium channel, voltage-gated, type IX, alpha polypeptide		NA	7720699, 10198179, 16382098	Standard	NM_002977	NM_002977	NA	Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409672.1:c.1972C>T	2.37:g.167138288G>A	ENSP00000386306:p.Arg658Cys	NA	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	37	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	G	9.329	1.060097	0.19987	0.001339	0.0	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.96522	-2.86;-2.86;-2.86;-2.86;-4.04;-2.86	5.71	2.73	0.32206	Domain of unknown function DUF3451 (1);	0.310145	0.27744	N	0.018033	D	0.95037	0.8393	M	0.85710	2.77	0.43417	D	0.995564	B;B;B	0.15719	0.006;0.014;0.001	B;B;B	0.19666	0.016;0.026;0.011	D	0.92168	0.5741	10	0.62326	D	0.03	.	5.7959	0.18387	0.0675:0.1193:0.5719:0.2413	.	658;669;670	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	C	658;670;670;669;523;534	ENSP00000386306:R658C;ENSP00000364536:R670C;ENSP00000304748:R670C;ENSP00000386330:R669C;ENSP00000413212:R523C;ENSP00000393141:R534C	ENSP00000304748:R670C	R	-	1	0	SCN9A	166846534	0.000000	0.05858	0.797000	0.32132	0.058000	0.15608	0.210000	0.17455	0.854000	0.35336	0.650000	0.86243	CGT	SCN9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333636.1		-	ENST00000409672.1	Missense_Mutation	SNP	2 : 167138288 - 167138288 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	440	29
GP6	51206	broad.mit.edu	37	19	55543732	55543732	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55543732G>A	ENST00000310373.3	-	3	127	c.100C>T	c.(100-102)Ccc>Tcc	p.P34S	CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000586961.1_RNA|GP6_ENST00000417454.1_Missense_Mutation_p.P34S|GP6_ENST00000333884.2_Missense_Mutation_p.P34S|CTC-550B14.6_ENST00000585492.1_RNA	NM_001083899.1	NP_001077368	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	34	Ig-like C2-type 1.				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		AGGGAGCTGGGCAGAGCCTGG	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	22	21			NA	NA	19		NA											NA				55543732		1959	4138	6097	SO:0001583	missense			AB035073	CCDS42626.1, CCDS46184.1, CCDS58678.1	19q13.4	2013-01-29			ENSG00000088053	ENSG00000088053	51206	51206		Immunoglobulin superfamily / Immunoglobulin-like domain containing	14388	protein-coding gene	gene with protein product		605546			NA	11027634	Standard		NM_001083899	NA	Approved	GPVI	uc002qil.3	Q9HCN6	OTTHUMG00000159709	ENST00000310373.3:c.100C>T	19.37:g.55543732G>A	ENSP00000308782:p.Pro34Ser	NA	Q9HCN7|Q9UIF2	37	CCDS42626.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.396014	0.62177	.	.	ENSG00000088053	ENST00000417454;ENST00000310373;ENST00000333884	T;T;T	0.12879	2.64;2.64;2.64	3.96	3.96	0.45880	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35128	0.0921	M	0.78285	2.405	0.26996	N	0.965039	D;P;D	0.65815	0.987;0.709;0.995	P;P;D	0.63597	0.766;0.663;0.916	T	0.07290	-1.0780	9	0.87932	D	0	.	11.6946	0.51536	0.0:0.0:1.0:0.0	.	34;34;34	Q9HCN6-2;Q9HCN6-3;Q9HCN6	.;.;GPVI_HUMAN	S	34	ENSP00000394922:P34S;ENSP00000308782:P34S;ENSP00000334552:P34S	ENSP00000308782:P34S	P	-	1	0	GP6	60235544	0.910000	0.30920	0.196000	0.23383	0.956000	0.61745	3.954000	0.56708	2.234000	0.73211	0.561000	0.74099	CCC	GP6-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357007.1		-	ENST00000310373.3	Missense_Mutation	SNP	19 : 55543732 - 55543732 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	208	40
ZNF543	125919	broad.mit.edu	37	19	57839196	57839196	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57839196G>T	ENST00000321545.4	+	4	711	c.366G>T	c.(364-366)aaG>aaT	p.K122N		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGCAATCCAAGGATCAGGATG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	65	64			NA	NA	19		NA											NA				57839196		2203	4300	6503	SO:0001583	missense			AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229	125919	125919		Zinc fingers, C2H2-type, -	25281	protein-coding gene	gene with protein product					NA		Standard	XM_064865	NM_213598	NA	Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.366G>T	19.37:g.57839196G>T	ENSP00000322545:p.Lys122Asn	NA	Q495U9|Q495V0|Q6ZMP4|Q8NCX4	37	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	G	2.947	-0.217578	0.06101	.	.	ENSG00000178229	ENST00000321545	T	0.27890	1.64	2.87	0.42	0.16444	.	.	.	.	.	T	0.18509	0.0444	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23547	-1.0185	9	0.27082	T	0.32	.	5.6372	0.17544	0.1319:0.2037:0.6644:0.0	.	122	Q08ER8	ZN543_HUMAN	N	122	ENSP00000322545:K122N	ENSP00000322545:K122N	K	+	3	2	ZNF543	62531008	0.000000	0.05858	0.004000	0.12327	0.029000	0.11900	0.122000	0.15687	0.544000	0.28883	0.555000	0.69702	AAG	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465780.1		+	ENST00000321545.4	Missense_Mutation	SNP	19 : 57839196 - 57839196 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	307	54
RMDN1	51115	broad.mit.edu	37	8	87487169	87487169	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:87487169G>T	ENST00000406452.3	-	9	933	c.774C>A	c.(772-774)ttC>ttA	p.F258L	RMDN1_ENST00000519966.1_Intron|RMDN1_ENST00000430676.2_Missense_Mutation_p.F228L|RMDN1_ENST00000523911.1_Intron	NM_016033.2	NP_057117.2			regulator of microtubule dynamics 1	NA											NA						TTTTGCTGTAGAAGTTTGGAT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	120	123			NA	NA	8		NA											NA				87487169		2203	4300	6503	SO:0001583	missense			AK000672	CCDS34918.1, CCDS69509.1, CCDS69510.1	8q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000176623	ENSG00000176623	51115	51115			24285	protein-coding gene	gene with protein product		611871	family with sequence similarity 82, member B	FAM82B	NA	10810093	Standard	NM_016033	NM_016033	NA	Approved	CGI-90, FLJ20665, RMD1	uc003ydu.3	Q96DB5	OTTHUMG00000163692	ENST00000406452.3:c.774C>A	8.37:g.87487169G>T	ENSP00000385927:p.Phe258Leu	NA		37	CCDS34918.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.125243|4.125243	0.77436|0.77436	.|.	.|.	ENSG00000176623|ENSG00000176623	ENST00000406452;ENST00000430676|ENST00000517710;ENST00000519639;ENST00000522942	T;T|.	0.54279|.	0.58;0.58|.	5.49|5.49	3.31|3.31	0.37934|0.37934	Tetratricopeptide-like helical (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74359|0.74359	0.3706|0.3706	M|M	0.86028|0.86028	2.79|2.79	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.959|.	D;P|.	0.91635|.	0.999;0.816|.	T|T	0.76189|0.76189	-0.3050|-0.3050	10|5	0.30854|.	T|.	0.27|.	-13.0414|-13.0414	9.3135|9.3135	0.37919|0.37919	0.2623:0.0:0.7377:0.0|0.2623:0.0:0.7377:0.0	.|.	228;258|.	B4DZW6;Q96DB5|.	.;RMD1_HUMAN|.	L|Y	258;228|45;104;64	ENSP00000385927:F258L;ENSP00000409661:F228L|.	ENSP00000385927:F258L|.	F|S	-|-	3|2	2|0	FAM82B|FAM82B	87556285|87556285	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	2.682000|2.682000	0.46934|0.46934	1.442000|1.442000	0.47568|0.47568	0.563000|0.563000	0.77884|0.77884	TTC|TCT	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374770.2		-	ENST00000406452.3	Missense_Mutation	SNP	8 : 87487169 - 87487169 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	393	33
DPPA2	151871	broad.mit.edu	37	3	109026937	109026937	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:109026937C>A	ENST00000478945.1	-	6	846	c.600G>T	c.(598-600)aaG>aaT	p.K200N		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	200						nucleus	nucleic acid binding	p.K200K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AATTCAAAGCCTTAGGCTGAA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	ovary(1)											112	102	105			NA	NA	3		NA											NA				109026937		2203	4300	6503	SO:0001583	missense			AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530	151871	151871			19197	protein-coding gene	gene with protein product	cancer/testis antigen 100	614445			NA	15583978	Standard	NM_138815	NM_138815	NA	Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.600G>T	3.37:g.109026937C>A	ENSP00000417710:p.Lys200Asn	NA	Q8WVF0	37	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.502876	0.44558	.	.	ENSG00000163530	ENST00000478945	T	0.58358	0.34	4.43	2.29	0.28610	.	0.205916	0.34460	N	0.003947	T	0.58278	0.2111	L	0.53249	1.67	0.09310	N	1	D	0.69078	0.997	D	0.63793	0.918	T	0.47586	-0.9106	10	0.66056	D	0.02	-10.1475	4.4885	0.11801	0.0:0.6333:0.2128:0.1539	.	200	Q7Z7J5	DPPA2_HUMAN	N	200	ENSP00000417710:K200N	ENSP00000417710:K200N	K	-	3	2	DPPA2	110509627	0.000000	0.05858	0.013000	0.15412	0.163000	0.22366	0.097000	0.15168	0.589000	0.29677	0.555000	0.69702	AAG	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353938.1		-	ENST00000478945.1	Missense_Mutation	SNP	3 : 109026937 - 109026937 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	352	70
CLPB	81570	broad.mit.edu	37	11	72145200	72145200	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72145200C>T	ENST00000294053.3	-	1	492	c.319G>A	c.(319-321)Gtc>Atc	p.V107I	CLPB_ENST00000538039.1_Missense_Mutation_p.V107I|CLPB_ENST00000340729.5_Missense_Mutation_p.V107I|CLPB_ENST00000437826.2_Missense_Mutation_p.G26D|CLPB_ENST00000445069.2_Intron|CLPB_ENST00000543042.1_5'UTR	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	107					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CTGCTGGGGACCCCGTTCCAG	0.622		NA									OREG0021194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	55	54			NA	NA	11		NA											NA				72145200		2200	4293	6493	SO:0001583	missense			BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129	81570	81570		Ankyrin repeat domain containing	30664	protein-coding gene	gene with protein product	suppressor of potassium transport defect 3				NA	11230166, 7835694	Standard	NM_030813	NM_030813	NA	Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.319G>A	11.37:g.72145200C>T	ENSP00000294053:p.Val107Ile	1135	Q8ND11|Q9H8Y0	37	CCDS8215.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.86|13.86	2.364430|2.364430	0.41902|0.41902	.|.	.|.	ENSG00000162129|ENSG00000162129	ENST00000535990;ENST00000437826|ENST00000294053;ENST00000538039;ENST00000340729	T;T|T;T;T	0.36157|0.66638	1.27;2.27|1.92;1.21;-0.22	4.51|4.51	3.57|3.57	0.40892|0.40892	.|.	.|0.224693	.|0.27451	.|N	.|0.019310	T|T	0.47544|0.47544	0.1451|0.1451	N|N	0.14661|0.14661	0.345|0.345	0.25689|0.25689	N|N	0.985717|0.985717	B|B;B;B	0.17667|0.24483	0.023|0.03;0.034;0.104	B|B;B;B	0.18263|0.24394	0.021|0.037;0.053;0.024	T|T	0.44997|0.44997	-0.9291|-0.9291	9|10	0.87932|0.52906	D|T	0|0.07	-9.4933|-9.4933	9.7795|9.7795	0.40640|0.40640	0.2059:0.7941:0.0:0.0|0.2059:0.7941:0.0:0.0	.|.	26|107;107;107	E7EWN6|F8W7P6;Q9H078-2;Q9H078	.|.;.;CLPB_HUMAN	D|I	76;26|107	ENSP00000443822:G76D;ENSP00000407296:G26D|ENSP00000294053:V107I;ENSP00000441518:V107I;ENSP00000340385:V107I	ENSP00000407296:G26D|ENSP00000294053:V107I	G|V	-|-	2|1	0|0	CLPB|CLPB	71822848|71822848	0.822000|0.822000	0.29219|0.29219	0.929000|0.929000	0.37066|0.37066	0.422000|0.422000	0.31414|0.31414	1.858000|1.858000	0.39408|0.39408	1.206000|1.206000	0.43276|0.43276	0.655000|0.655000	0.94253|0.94253	GGT|GTC	CLPB-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396889.1		-	ENST00000294053.3	Missense_Mutation	SNP	11 : 72145200 - 72145200 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	586	14
OVCH1	341350	broad.mit.edu	37	12	29649590	29649590	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29649590G>A	ENST00000318184.5	-	2	81	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	28					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.R28C(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TTGACCATGCGAATTCCACAC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											133	125	127			NA	NA	12		NA											NA				29649590		1877	4126	6003	SO:0001583	missense			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950	341350	341350			23080	protein-coding gene	gene with protein product					NA	12838346	Standard	NM_183378	NM_183378	NA	Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.82C>T	12.37:g.29649590G>A	ENSP00000326708:p.Arg28Cys	NA		37		.	.	.	.	.	.	.	.	.	.	g	10.08	1.251177	0.22880	.	.	ENSG00000187950	ENST00000318184	D	0.88431	-2.38	2.88	-1.01	0.10169	Peptidase cysteine/serine, trypsin-like (1);	.	.	.	.	T	0.74344	0.3704	N	0.08118	0	0.09310	N	1	B	0.19445	0.036	B	0.08055	0.003	T	0.62310	-0.6881	9	0.72032	D	0.01	.	6.136	0.20233	0.5204:0.0:0.4796:0.0	.	28	Q7RTY7	OVCH1_HUMAN	C	28	ENSP00000326708:R28C	ENSP00000326708:R28C	R	-	1	0	OVCH1	29540857	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.060000	0.14342	-0.246000	0.09611	-1.003000	0.02500	CGC	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000395997.2		-	ENST00000318184.5	Missense_Mutation	SNP	12 : 29649590 - 29649590 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	514	94
KLHDC4	54758	broad.mit.edu	37	16	87764186	87764186	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87764186G>T	ENST00000270583.5	-	6	629	c.571C>A	c.(571-573)Ctg>Atg	p.L191M	KLHDC4_ENST00000353170.5_Missense_Mutation_p.L134M|KLHDC4_ENST00000347925.5_Intron|KLHDC4_ENST00000566349.1_5'UTR	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	191										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		CCACCAAACAGGATCAATTGT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	127	134			NA	NA	16		NA											NA				87764186		2198	4300	6498	SO:0001583	missense			AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731	54758	54758			25272	protein-coding gene	gene with protein product					NA		Standard	NM_017566	NM_001184854	NA	Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.571C>A	16.37:g.87764186G>T	ENSP00000270583:p.Leu191Met	NA	D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	37	CCDS10963.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528879	0.64860	.	.	ENSG00000104731	ENST00000270583;ENST00000316853;ENST00000353170	T;T	0.69040	-0.37;-0.37	4.92	1.22	0.21188	Kelch-type beta propeller (1);	0.291280	0.32593	N	0.005883	T	0.65217	0.2670	L	0.31476	0.935	0.31859	N	0.621278	D;D;B	0.64830	0.994;0.991;0.397	D;P;B	0.65987	0.94;0.894;0.206	T	0.66110	-0.6005	10	0.45353	T	0.12	-21.5663	7.3044	0.26438	0.0:0.3857:0.3034:0.311	.	10;134;191	Q9UF94;Q8TBB5-2;Q8TBB5	.;.;KLDC4_HUMAN	M	191;10;134	ENSP00000270583:L191M;ENSP00000262530:L134M	ENSP00000270583:L191M	L	-	1	2	KLHDC4	86321687	0.043000	0.20138	0.538000	0.28064	0.827000	0.46813	-0.176000	0.09811	1.010000	0.39314	0.655000	0.94253	CTG	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269109.2		-	ENST00000270583.5	Missense_Mutation	SNP	16 : 87764186 - 87764186 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	565	150
ZDHHC6	64429	broad.mit.edu	37	10	114190566	114190566	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114190566C>T	ENST00000369405.3	-	11	1661	c.1238G>A	c.(1237-1239)aGa>aAa	p.R413K	ZDHHC6_ENST00000482410.1_Intron|ZDHHC6_ENST00000369404.3_Missense_Mutation_p.R409K	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	413						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		CAGCAGCTATCTATTTTTCTT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	84	84			NA	NA	10		NA											NA				114190566		2203	4300	6503	SO:0001583	missense			AK025605	CCDS7574.1	10q26.11	2008-05-02			ENSG00000023041	ENSG00000023041	64429	64429		Zinc fingers, DHHC-type	19160	protein-coding gene	gene with protein product					NA		Standard	NM_022494	NM_022494	NA	Approved	ZNF376, FLJ21952	uc001kzv.3	Q9H6R6	OTTHUMG00000019062	ENST00000369405.3:c.1238G>A	10.37:g.114190566C>T	ENSP00000358413:p.Arg413Lys	NA	D3DRB6|Q53G45|Q96IV7|Q9H605	37	CCDS7574.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.260108	0.39995	.	.	ENSG00000023041	ENST00000369405;ENST00000369404	T;T	0.64803	0.62;-0.12	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.53384	0.1793	L	0.39633	1.23	0.40040	D	0.975638	B;B	0.06786	0.001;0.0	B;B	0.08055	0.001;0.003	T	0.46843	-0.9162	10	0.27785	T	0.31	-1.2885	15.0839	0.72135	0.0:0.93:0.0:0.07	.	409;413	Q9H6R6-2;Q9H6R6	.;ZDHC6_HUMAN	K	413;409	ENSP00000358413:R413K;ENSP00000358412:R409K	ENSP00000358412:R409K	R	-	2	0	ZDHHC6	114180556	1.000000	0.71417	0.998000	0.56505	0.813000	0.45954	3.275000	0.51639	2.785000	0.95823	0.650000	0.86243	AGA	ZDHHC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050393.1		-	ENST00000369405.3	Missense_Mutation	SNP	10 : 114190566 - 114190566 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	374	55
XIRP2	129446	broad.mit.edu	37	2	168107754	168107754	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168107754G>A	ENST00000409195.1	+	9	9941	c.9852G>A	c.(9850-9852)gtG>gtA	p.V3284V	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Silent_p.V3062V|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Silent_p.V3284V	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3109					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATCACATGGTGCCCGACACTG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	94	94			NA	NA	2		NA											NA				168107754		2019	4176	6195	SO:0001819	synonymous_variant			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092	129446	129446			14303	protein-coding gene	gene with protein product	myomaxin	609778	cardiomyopathy associated 3	CMYA3	NA	17046827, 12203715, 15454575	Standard	NM_152381	NM_001079810	NA	Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9852G>A	2.37:g.168107754G>A		NA	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	37	CCDS42769.1																																																																																			XIRP2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333547.1		+	ENST00000409195.1	Silent	SNP	2 : 168107754 - 168107754 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	706	189
PMS2	5395	broad.mit.edu	37	7	6017283	6017283	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6017283G>A	ENST00000265849.7	-	14	2486	c.2381C>T	c.(2380-2382)cCt>cTt	p.P794L	PMS2_ENST00000441476.2_Missense_Mutation_p.P688L|PMS2_ENST00000382321.4_Missense_Mutation_p.P393L	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	794					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CATGACCCCAGGGCTGTCGCT	0.542		NA	Mis, N, F			colorectal, endometrial, ovarian, medulloblastoma, glioma		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Hereditary non-polyposis colorectal cancer, Turcot syndrome	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	0													23	21	22			NA	NA	7		NA											NA				6017283		2142	4137	6279	SO:0001583	missense	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512	5395	5395			9122	protein-coding gene	gene with protein product		600259	postmeiotic segregation increased (S. cerevisiae) 2	PMSL2	NA	8072530	Standard	NM_000535	NM_000535	NA	Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.2381C>T	7.37:g.6017283G>A	ENSP00000265849:p.Pro794Leu	NA	B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	37	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	G	34	5.302696	0.95601	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000382321;ENST00000441476	T;T;T	0.73681	-0.77;-0.77;-0.77	5.75	5.75	0.90469	MutL, C-terminal, dimerisation (2);	0.000000	0.85682	D	0.000000	D	0.87989	0.6317	M	0.87827	2.91	0.80722	D	1	D;P;D	0.89917	1.0;0.939;1.0	D;P;D	0.97110	0.999;0.823;1.0	D	0.86008	0.1499	10	0.29301	T	0.29	-13.193	18.9294	0.92558	0.0:0.0:1.0:0.0	.	393;794;688	P54278-2;P54278;C9J167	.;PMS2_HUMAN;.	L	794;747;393;688	ENSP00000265849:P794L;ENSP00000371758:P393L;ENSP00000392843:P688L	ENSP00000265849:P794L	P	-	2	0	PMS2	5983809	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	9.859000	0.99545	2.728000	0.93425	0.549000	0.68633	CCT	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207353.3		-	ENST00000265849.7	Missense_Mutation	SNP	7 : 6017283 - 6017283 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	549	65
CRELD1	78987	broad.mit.edu	37	3	9982832	9982832	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9982832G>T	ENST00000383811.3	+	6	1274	c.675G>T	c.(673-675)gaG>gaT	p.E225D	CRELD1_ENST00000326434.5_Missense_Mutation_p.E225D|CRELD1_ENST00000397170.3_Missense_Mutation_p.E225D|CRELD1_ENST00000489674.1_3'UTR|CRELD1_ENST00000452070.1_Missense_Mutation_p.E225D	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	225					cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						CAGGACCTGAGGAATCAAACT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	110	112			NA	NA	3		NA											NA				9982832		2203	4300	6503	SO:0001583	missense			AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703	78987	78987			14630	protein-coding gene	gene with protein product		607170	atrioventricular septal defect 2	AVSD2	NA	10922384, 12137942	Standard	NM_015513	NM_015513	NA	Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.675G>T	3.37:g.9982832G>T	ENSP00000373322:p.Glu225Asp	NA	A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	37	CCDS2593.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109127	0.37242	.	.	ENSG00000163703	ENST00000397170;ENST00000383811;ENST00000452070;ENST00000326434	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	4.96	3.11	0.35812	Growth factor, receptor (1);	0.192965	0.43919	D	0.000509	T	0.67353	0.2884	N	0.03608	-0.345	0.39846	D	0.97317	P;B	0.38922	0.651;0.42	B;B	0.35859	0.212;0.099	T	0.63220	-0.6686	9	.	.	.	-11.5993	8.3398	0.32237	0.0873:0.1569:0.7558:0.0	.	225;225	Q96HD1;Q96HD1-2	CREL1_HUMAN;.	D	225	ENSP00000380355:E225D;ENSP00000373322:E225D;ENSP00000393643:E225D;ENSP00000321856:E225D	.	E	+	3	2	CRELD1	9957832	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.240000	0.58701	0.637000	0.30526	0.561000	0.74099	GAG	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250533.1		+	ENST00000383811.3	Missense_Mutation	SNP	3 : 9982832 - 9982832 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	445	77
TTN	7273	broad.mit.edu	37	2	179462653	179462653	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179462653C>T	ENST00000589042.1	-	293	57468	c.57244G>A	c.(57244-57246)Gaa>Aaa	p.E19082K	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E17441K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E10142K|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E10017K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E16514K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E10209K|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17441	Fibronectin type-III 38.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTTCATTTCAATGACATCT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	155	157			NA	NA	2		NA											NA				179462653		1899	4125	6024	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.57244G>A	2.37:g.179462653C>T	ENSP00000467141:p.Glu19082Lys	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307995	0.60305	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.87	5.87	0.94306	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44371	0.1290	N	0.11313	0.125	0.58432	D	0.999994	D;D;D;D	0.58620	0.966;0.966;0.966;0.983	P;P;P;P	0.51016	0.505;0.505;0.505;0.656	T	0.51841	-0.8654	9	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	10017;10142;10209;17441	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	16514;10017;10209;10142;10015	ENSP00000343764:E16514K;ENSP00000434586:E10017K;ENSP00000340554:E10209K;ENSP00000352154:E10142K	ENSP00000340554:E10209K	E	-	1	0	TTN	179170898	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.904000	0.69886	2.941000	0.99782	0.655000	0.94253	GAA	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179462653 - 179462653 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	523	87
MXD1	4084	broad.mit.edu	37	2	70165302	70165302	+	Silent	SNP	C	C	T	rs148753961		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70165302C>T	ENST00000465446.1	+	0	19				MXD1_ENST00000540449.1_Silent_p.S174S|MXD1_ENST00000264444.2_Silent_p.S184S			Q05195	MAD1_HUMAN	MAX dimerization protein 1	NA					cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						GCAGTGTGAGCGACTCTGACG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,	0,4406		0,0,2203	118	112	114		549,522,552	-5.1	0.9	2	dbSNP_134	114	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	MXD1	NM_001202513.1,NM_001202514.1,NM_002357.3	,,	0,2,6501	TT,TC,CC	NA	0.0233,0.0,0.0154	,,	183/221,174/212,184/222	70165302	2,13004	2203	4300	6503	SO:0001624	3_prime_UTR_variant				CCDS1896.1, CCDS56123.1	2p13-p12	2010-07-07		2005-02-11	ENSG00000059728	ENSG00000059728	4084	4084		MAX dimerization proteins, Basic helix-loop-helix proteins	6761	protein-coding gene	gene with protein product		600021		MAD	NA	7829091	Standard	NM_002357	NM_002357	NA	Approved	MAD1, bHLHc58	uc002sfy.3	Q05195	OTTHUMG00000129646	ENST00000465446.1:c.*16C>T	2.37:g.70165302C>T		NA	B2R6V8|D6W5G2|Q6FI41	37																																																																																				MXD1-005	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000327377.1		+	ENST00000465446.1	3'UTR	SNP	2 : 70165302 - 70165302 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	112
EFHC1	114327	broad.mit.edu	37	6	52343868	52343868	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52343868T>A	ENST00000371068.5	+	8	1415	c.1312T>A	c.(1312-1314)Ttt>Att	p.F438I	EFHC1_ENST00000538167.1_Missense_Mutation_p.F419I|EFHC1_ENST00000433625.2_Missense_Mutation_p.F347I	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	438	DM10 3.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					AGACCGCAGATTTGTCTTCTC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	103	105			NA	NA	6		NA											NA				52343868		2203	4300	6503	SO:0001583	missense			AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093	114327	114327		EF-hand domain containing	16406	protein-coding gene	gene with protein product	myoclonin-1	608815	epilepsy, juvenile myoclonic 1	EJM1, EJM	NA	15258581	Standard	NM_018100	NM_018100	NA	Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.1312T>A	6.37:g.52343868T>A	ENSP00000360107:p.Phe438Ile	NA	Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	37	CCDS4942.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.514557	0.85389	.	.	ENSG00000096093	ENST00000371068;ENST00000433625;ENST00000538167	D;D;D	0.85629	-1.79;-1.98;-2.01	5.89	5.89	0.94794	Uncharacterised domain DM10 (2);	0.000000	0.85682	D	0.000000	D	0.93226	0.7842	M	0.91406	3.205	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.989	D	0.94628	0.7819	10	0.87932	D	0	-4.1261	16.3071	0.82852	0.0:0.0:0.0:1.0	.	419;347;438	F5GZD8;B7Z2S4;Q5JVL4	.;.;EFHC1_HUMAN	I	438;347;419	ENSP00000360107:F438I;ENSP00000416492:F347I;ENSP00000444521:F419I	ENSP00000360107:F438I	F	+	1	0	EFHC1	52451827	1.000000	0.71417	0.905000	0.35620	0.391000	0.30476	7.794000	0.85869	2.250000	0.74265	0.477000	0.44152	TTT	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040905.2		+	ENST00000371068.5	Missense_Mutation	SNP	6 : 52343868 - 52343868 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	550	22
TCF3	6929	broad.mit.edu	37	19	1625590	1625590	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1625590C>T	ENST00000262965.5	-	7	828	c.484G>A	c.(484-486)Gca>Aca	p.A162T	TCF3_ENST00000453954.2_Missense_Mutation_p.A78T|TCF3_ENST00000344749.5_Missense_Mutation_p.A162T|TCF3_ENST00000395423.3_Missense_Mutation_p.A111T|TCF3_ENST00000588136.1_Missense_Mutation_p.A162T	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN	transcription factor 3	162					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		CTGCCGTCTGCCGCTCTCCGC	0.697		NA	T	PBX1, HLF, TFPT	pre B-ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	0													10	12	11			NA	NA	19		NA											NA				1625590		2175	4270	6445	SO:0001583	missense			M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564	6929	6929		Basic helix-loop-helix proteins	11633	protein-coding gene	gene with protein product	transcription factor E2-alpha, immunoglobulin transcription factor 1, kappa-E2-binding factor, E2A immunoglobulin enhancer-binding factor E12/E47, VDR interacting repressor	147141			NA	2308859, 1967983	Standard	NM_003200	NM_003200	NA	Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.484G>A	19.37:g.1625590C>T	ENSP00000262965:p.Ala162Thr	NA	P15883|Q14208|Q14635|Q14636|Q2TB40|Q9UPI9	37	CCDS12074.1	.	.	.	.	.	.	.	.	.	.	C	4.556	0.103203	0.08731	.	.	ENSG00000071564	ENST00000262965;ENST00000344749;ENST00000453954;ENST00000395423	T;T;T	0.55234	0.53;0.53;0.53	4.52	3.48	0.39840	.	0.287580	0.34628	N	0.003805	T	0.41259	0.1151	L	0.46157	1.445	0.32262	N	0.570039	B;B;P	0.37688	0.269;0.012;0.605	B;B;B	0.34093	0.088;0.012;0.175	T	0.52275	-0.8597	10	0.39692	T	0.17	-13.5314	9.4074	0.38471	0.0:0.898:0.0:0.102	.	162;162;111	P15923-2;P15923;Q2TB39	.;TFE2_HUMAN;.	T	162;162;162;111	ENSP00000262965:A162T;ENSP00000344375:A162T;ENSP00000378813:A111T	ENSP00000262965:A162T	A	-	1	0	TCF3	1576590	0.883000	0.30277	0.250000	0.24296	0.053000	0.15095	1.336000	0.33850	0.886000	0.36113	0.561000	0.74099	GCA	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449367.1		-	ENST00000262965.5	Missense_Mutation	SNP	19 : 1625590 - 1625590 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	101	22
ACADS	35	broad.mit.edu	37	12	121175748	121175748	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121175748C>T	ENST00000242592.4	+	5	732	c.581C>T	c.(580-582)gCt>gTt	p.A194V	ACADS_ENST00000411593.2_Intron	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	194						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	GAGGCTTCGGCTGCCGTGGTC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	57	57			NA	NA	12		NA											NA				121175748		2203	4300	6503	SO:0001583	missense			M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	35	35	1.3.8.1		90	protein-coding gene	gene with protein product		606885	acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain		NA	2565344	Standard	NM_000017	NM_000017	NA	Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.581C>T	12.37:g.121175748C>T	ENSP00000242592:p.Ala194Val	NA	P78331	37	CCDS9207.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429904	0.62844	.	.	ENSG00000122971	ENST00000242592	D	0.94828	-3.53	4.95	4.95	0.65309	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.000000	0.85682	D	0.000000	D	0.84229	0.5426	N	0.02266	-0.62	0.80722	D	1	B;B	0.15141	0.012;0.012	B;B	0.12837	0.008;0.008	T	0.80852	-0.1197	10	0.05959	T	0.93	.	18.1749	0.89758	0.0:1.0:0.0:0.0	.	194;194	E5KSD5;P16219	.;ACADS_HUMAN	V	194	ENSP00000242592:A194V	ENSP00000242592:A194V	A	+	2	0	ACADS	119660131	1.000000	0.71417	0.282000	0.24776	0.900000	0.52787	7.459000	0.80802	2.288000	0.76882	0.462000	0.41574	GCT	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402861.1		+	ENST00000242592.4	Missense_Mutation	SNP	12 : 121175748 - 121175748 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	508	89
PCYOX1L	78991	broad.mit.edu	37	5	148747604	148747604	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148747604G>T	ENST00000514349.1	+	5	1181	c.602G>T	c.(601-603)aGc>aTc	p.S201I	PCYOX1L_ENST00000274569.4_Missense_Mutation_p.S291I			Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	291					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAGGCAACAGCTCTGACTTC	0.527		NA									OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(62;1136 1477 27277 27495)							NA				0													141	134	136			NA	NA	5		NA											NA				148747604		2203	4300	6503	SO:0001583	missense				CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882	78991	78991			28477	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024028	NM_024028	NA	Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000514349.1:c.602G>T	5.37:g.148747604G>T	ENSP00000428512:p.Ser201Ile	1719	Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	37		.	.	.	.	.	.	.	.	.	.	G	9.689	1.151505	0.21371	.	.	ENSG00000145882	ENST00000274569;ENST00000514349	T;T	0.15256	2.9;2.44	5.53	4.47	0.54385	Prenylcysteine lyase (1);	0.425451	0.27354	N	0.019756	T	0.11965	0.0291	N	0.08118	0	0.28518	N	0.913217	B;B;P	0.37594	0.033;0.364;0.601	B;B;B	0.41571	0.066;0.36;0.178	T	0.11641	-1.0579	10	0.37606	T	0.19	-20.1905	15.2515	0.73549	0.0788:0.0:0.9212:0.0	.	173;201;291	B3KXF9;E7EVZ5;Q8NBM8	.;.;PCYXL_HUMAN	I	291;201	ENSP00000274569:S291I;ENSP00000428512:S201I	ENSP00000274569:S291I	S	+	2	0	PCYOX1L	148727797	0.981000	0.34729	0.910000	0.35882	0.327000	0.28475	2.055000	0.41345	2.590000	0.87494	0.561000	0.74099	AGC	PCYOX1L-005	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000373488.2		+	ENST00000514349.1	Missense_Mutation	SNP	5 : 148747604 - 148747604 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	748	29
ARID2	196528	broad.mit.edu	37	12	46233202	46233202	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46233202G>A	ENST00000334344.6	+	11	1593	c.1421G>A	c.(1420-1422)aGt>aAt	p.S474N	ARID2_ENST00000422737.1_Missense_Mutation_p.S325N|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.S84N	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	474					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCAAGTTCCAGTCATCAAATG	0.403		NA	N, S, F		hepatocellular carcinoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0													176	160	166			NA	NA	12		NA											NA				46233202		2203	4300	6503	SO:0001583	missense				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079	196528	196528		-	18037	protein-coding gene	gene with protein product		609539			NA		Standard	XM_350875	NM_152641	NA	Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.1421G>A	12.37:g.46233202G>A	ENSP00000335044:p.Ser474Asn	NA	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	37	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.012622	0.35511	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	T	0.31510	1.49	5.09	0.249	0.15531	.	0.491901	0.23801	N	0.044436	T	0.11922	0.0290	N	0.16478	0.41	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.30475	-0.9977	10	0.02654	T	1	-0.8804	4.9068	0.13802	0.3033:0.2931:0.4036:0.0	.	474;325;474	Q68CP9-3;F8WCU9;Q68CP9	.;.;ARID2_HUMAN	N	474;325;84	ENSP00000335044:S474N	ENSP00000335044:S474N	S	+	2	0	ARID2	44519469	0.998000	0.40836	0.998000	0.56505	0.981000	0.71138	0.597000	0.24059	0.205000	0.20568	0.655000	0.94253	AGT	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318380.2		+	ENST00000334344.6	Missense_Mutation	SNP	12 : 46233202 - 46233202 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	610	118
C1orf173	0	broad.mit.edu	37	1	75078406	75078406	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75078406C>A	ENST00000326665.5	-	9	1306	c.1088G>T	c.(1087-1089)aGc>aTc	p.S363I	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.S166I	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN		363										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ACAACAGGAGCTTAACCTGTT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	100	101			NA	NA	1		NA											NA				75078406		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000326665.5:c.1088G>T	1.37:g.75078406C>A	ENSP00000322609:p.Ser363Ile	NA	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	32	5.114819	0.94339	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.61980	0.56;0.06	5.63	5.63	0.86233	.	.	.	.	.	T	0.78941	0.4363	M	0.80183	2.485	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.80400	-0.1398	9	0.87932	D	0	-16.7027	19.649	0.95793	0.0:1.0:0.0:0.0	.	166;363	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	I	363;166	ENSP00000322609:S363I;ENSP00000398581:S166I	ENSP00000322609:S363I	S	-	2	0	C1orf173	74850994	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.419000	0.80179	2.808000	0.96608	0.655000	0.94253	AGC	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026516.1		-	ENST00000326665.5	Missense_Mutation	SNP	1 : 75078406 - 75078406 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	278	42
ITGA10	8515	broad.mit.edu	37	1	145536894	145536894	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145536894C>T	ENST00000369304.3	+	18	2449	c.2274C>T	c.(2272-2274)acC>acT	p.T758T	ITGA10_ENST00000539363.1_Silent_p.T615T|ITGA10_ENST00000538811.1_Silent_p.T627T	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	758					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGACTGTGACCTTTGCCTTGG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													197	177	184			NA	NA	1		NA											NA				145536894		2203	4300	6503	SO:0001819	synonymous_variant			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127	8515	8515		Integrins	6135	protein-coding gene	gene with protein product		604042			NA	9685391, 10702680	Standard	NM_003637	NM_003637	NA	Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.2274C>T	1.37:g.145536894C>T		NA	B2RAM4|Q6UXJ6|Q9UHZ8	37	CCDS918.1																																																																																			ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000038537.2		+	ENST00000369304.3	Silent	SNP	1 : 145536894 - 145536894 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1138	289
SALL2	6297	broad.mit.edu	37	14	21993139	21993139	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21993139G>T	ENST00000327430.3	-	2	1017	c.723C>A	c.(721-723)ctC>ctA	p.L241L	SALL2_ENST00000450879.2_Intron|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	241							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TGGGGCTGAAGAGGGGTAGTA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	50	50			NA	NA	14		NA											NA				21993139		2203	4300	6503	SO:0001819	synonymous_variant			AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821	6297	6297		Zinc fingers, C2H2-type	10526	protein-coding gene	gene with protein product		602219	sal (Drosophila)-like 2, sal-like 2 (Drosophila)		NA	8975705	Standard	NM_005407	XM_005267983	NA	Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.723C>A	14.37:g.21993139G>T		NA	B2RMX6|B9EGK8|Q9Y4G1	37	CCDS32045.1																																																																																			SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401242.1		-	ENST00000327430.3	Silent	SNP	14 : 21993139 - 21993139 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	283	35
BAIAP2L2	80115	broad.mit.edu	37	22	38505149	38505149	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38505149C>T	ENST00000381669.3	-	2	262	c.118G>A	c.(118-120)Gcc>Acc	p.A40T	BAIAP2L2_ENST00000332536.5_Missense_Mutation_p.A40T	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	40	IMD.				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					CCGTGGAAGGCACGCAGGTAG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	66	64			NA	NA	22		NA											NA				38505149		1995	4162	6157	SO:0001583	missense			BC015619	CCDS43018.1	22q13.1	2005-02-09			ENSG00000128298	ENSG00000128298	80115	80115			26203	protein-coding gene	gene with protein product					NA		Standard	NM_025045	NM_025045	NA	Approved	FLJ22582	uc003auw.3	Q6UXY1	OTTHUMG00000151197	ENST00000381669.3:c.118G>A	22.37:g.38505149C>T	ENSP00000371085:p.Ala40Thr	NA	B0QYE2|Q96BG7	37	CCDS43018.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189363	0.57909	.	.	ENSG00000128298	ENST00000381669;ENST00000402500;ENST00000332536	.	.	.	5.03	3.97	0.46021	IRSp53/MIM homology domain (IMD) (3);	0.055036	0.64402	D	0.000001	T	0.67173	0.2865	M	0.80616	2.505	0.58432	D	0.999999	P	0.35872	0.525	B	0.39258	0.295	T	0.71573	-0.4552	9	0.66056	D	0.02	-1.8304	14.3751	0.66867	0.1494:0.8506:0.0:0.0	.	40	Q6UXY1	BI2L2_HUMAN	T	40	.	ENSP00000328876:A40T	A	-	1	0	BAIAP2L2	36835095	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	3.721000	0.54941	1.034000	0.39945	0.313000	0.20887	GCC	BAIAP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321727.1		-	ENST00000381669.3	Missense_Mutation	SNP	22 : 38505149 - 38505149 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	318	48
MUC16	94025	broad.mit.edu	37	19	9075035	9075035	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9075035G>T	ENST00000397910.4	-	3	12614	c.12411C>A	c.(12409-12411)ctC>ctA	p.L4137L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4139	Ser-rich.|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						CTTTGCTAAAGAGAGTGGTCT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	131	134			NA	NA	19		NA											NA				9075035		2043	4182	6225	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.12411C>A	19.37:g.9075035G>T		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 : 9075035 - 9075035 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	434	67
DHX32	55760	broad.mit.edu	37	10	127542554	127542554	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127542554G>A	ENST00000284690.3	-	4	1558	c.1068C>T	c.(1066-1068)atC>atT	p.I356I	DHX32_ENST00000284688.6_Intron|DHX32_ENST00000368721.1_5'UTR	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	356						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)				CACCCACATCGATAACAAATC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	128	129			NA	NA	10		NA											NA				127542554		2203	4300	6503	SO:0001819	synonymous_variant				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.1068C>T	10.37:g.127542554G>A		NA	A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	37	CCDS7652.1																																																																																			DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050945.2		-	ENST00000284690.3	Silent	SNP	10 : 127542554 - 127542554 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	556	98
ROS1	6098	broad.mit.edu	37	6	117704623	117704623	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117704623C>T	ENST00000368508.3	-	16	2551	c.2353G>A	c.(2353-2355)Gtg>Atg	p.V785M	ROS1_ENST00000368507.3_Missense_Mutation_p.V780M|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	785					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AATAGCTTCACGTGGGTAACA	0.418		NA	T	GOPC, SDC4, SLC34A2, EZR, LRIG3	glioblastoma, NSCLC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		O, E	0													226	203	211			NA	NA	6		NA											NA				117704623		2203	4300	6503	SO:0001583	missense			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936	6098	6098		Fibronectin type III domain containing	10261	protein-coding gene	gene with protein product		165020	v-ros avian UR2 sarcoma virus oncogene homolog 1, v-ros UR2 sarcoma virus oncogene homolog 1 (avian), c-ros oncogene 1 , receptor tyrosine kinase		NA	1611909	Standard		NM_002944	NA	Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.2353G>A	6.37:g.117704623C>T	ENSP00000357494:p.Val785Met	NA	Q15368|Q5TDB5	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.524783	0.44969	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.91577	-2.87;-2.87	4.57	3.68	0.42216	.	0.126462	0.35378	N	0.003247	D	0.87229	0.6125	N	0.19112	0.55	0.36010	D	0.837963	D	0.76494	0.999	D	0.65987	0.94	D	0.89157	0.3527	10	0.72032	D	0.01	.	11.0181	0.47701	0.0:0.9065:0.0:0.0935	.	785	P08922	ROS1_HUMAN	M	785;780	ENSP00000357494:V785M;ENSP00000357493:V780M	ENSP00000357493:V780M	V	-	1	0	ROS1	117811316	0.997000	0.39634	0.916000	0.36221	0.490000	0.33462	3.832000	0.55783	2.260000	0.74910	0.655000	0.94253	GTG	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043464.1		-	ENST00000368508.3	Missense_Mutation	SNP	6 : 117704623 - 117704623 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	999	162
RNF32	140545	broad.mit.edu	37	7	156468427	156468427	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156468427A>C	ENST00000405335.1	+	9	1131	c.722A>C	c.(721-723)aAc>aCc	p.N241T	RNF32_ENST00000343665.4_Missense_Mutation_p.N217T|RNF32_ENST00000311822.8_Missense_Mutation_p.N241T|RNF32_ENST00000317955.5_Missense_Mutation_p.N241T|RNF32_ENST00000392743.2_Missense_Mutation_p.N241T|LMBR1_ENST00000430825.2_Intron|RNF32_ENST00000432459.2_Missense_Mutation_p.N241T			Q9H0A6	RNF32_HUMAN	ring finger protein 32	241						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TGCTCATACAACACCAACATT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	128	129			NA	NA	7		NA											NA				156468427		2203	4300	6503	SO:0001583	missense				CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982	140545	140545		RING-type (C3HC4) zinc fingers	17118	protein-coding gene	gene with protein product		610241			NA	11890671	Standard	NM_030936	NM_001184996	NA	Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.722A>C	7.37:g.156468427A>C	ENSP00000385285:p.Asn241Thr	NA	Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	37	CCDS5944.1	.	.	.	.	.	.	.	.	.	.	A	3.878	-0.026452	0.07589	.	.	ENSG00000105982	ENST00000432459;ENST00000317955;ENST00000405335;ENST00000311822;ENST00000392743;ENST00000343665	T;T;T;T;T;T	0.22743	2.3;2.3;2.3;1.94;2.3;1.97	5.23	1.57	0.23409	.	0.722210	0.14790	N	0.298282	T	0.14013	0.0339	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.11235	0.004;0.003	B;B	0.11329	0.006;0.001	T	0.27054	-1.0085	10	0.30854	T	0.27	-3.3078	8.2561	0.31758	0.6967:0.0:0.3033:0.0	.	241;241	G5E940;Q9H0A6	.;RNF32_HUMAN	T	241;241;241;241;241;217	ENSP00000405588:N241T;ENSP00000315950:N241T;ENSP00000385285:N241T;ENSP00000308894:N241T;ENSP00000376499:N241T;ENSP00000341185:N217T	ENSP00000308894:N241T	N	+	2	0	RNF32	156161188	0.000000	0.05858	0.052000	0.19188	0.584000	0.36387	0.021000	0.13489	0.029000	0.15352	-0.274000	0.10170	AAC	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322660.2		+	ENST00000405335.1	Missense_Mutation	SNP	7 : 156468427 - 156468427 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	608	96
FAM76B	143684	broad.mit.edu	37	11	95519306	95519306	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:95519306G>A	ENST00000358780.5	-	4	652	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	FAM76B_ENST00000536839.1_Missense_Mutation_p.R114W	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN	family with sequence similarity 76, member B	114										breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCCTCCTTCCGATCAAAAGCA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG	0,4118		0,0,2059	148	144	145		340	6	1	11		145	1,8471		0,1,4235	no	missense	FAM76B	NM_144664.4	101	0,1,6294	AA,AG,GG	NA	0.0118,0.0,0.0079	probably-damaging	114/340	95519306	1,12589	2059	4236	6295	SO:0001583	missense				CCDS41700.1	11q21	2008-02-05			ENSG00000077458	ENSG00000077458	143684	143684			28492	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_144664	NM_144664	NA	Approved	MGC33371	uc001pfn.2	Q5HYJ3	OTTHUMG00000167739	ENST00000358780.5:c.340C>T	11.37:g.95519306G>A	ENSP00000351631:p.Arg114Trp	NA	Q6PIU3|Q8TC53	37	CCDS41700.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.026245	0.93518	0.0	1.18E-4	ENSG00000077458	ENST00000358780;ENST00000536839	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.84370	0.5457	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.85294	0.1069	9	0.87932	D	0	-4.671	20.4008	0.98991	0.0:0.0:1.0:0.0	.	114	Q5HYJ3	FA76B_HUMAN	W	114	.	ENSP00000351631:R114W	R	-	1	2	FAM76B	95158954	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.305000	0.72805	2.826000	0.97356	0.655000	0.94253	CGG	FAM76B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395969.1		-	ENST00000358780.5	Missense_Mutation	SNP	11 : 95519306 - 95519306 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	650	116
MRPS36	92259	broad.mit.edu	37	5	68524042	68524042	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:68524042G>T	ENST00000256441.4	+	3	192	c.122G>T	c.(121-123)aGa>aTa	p.R41I	MRPS36_ENST00000512880.1_5'UTR|MRPS36_ENST00000507022.1_3'UTR|MRPS36_ENST00000602380.1_5'UTR	NM_033281.5	NP_150597.1	P82909	RT36_HUMAN	mitochondrial ribosomal protein S36	41					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1)	7		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)		GAAGCTTTGAGATCAGCAGGG	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	53	52			NA	NA	5		NA											NA				68524042		2203	4300	6503	SO:0001583	missense				CCDS34174.1	5q13.2	2013-09-20			ENSG00000134056	ENSG00000134056	92259	92259		Mitochondrial ribosomal proteins / small subunits	16631	protein-coding gene	gene with protein product		611996			NA	11279123	Standard	NM_033281	NM_033281	NA	Approved	DC47, MRP-S36	uc003jvq.3	P82909	OTTHUMG00000162443	ENST00000256441.4:c.122G>T	5.37:g.68524042G>T	ENSP00000256441:p.Arg41Ile	NA	Q9H2H4	37	CCDS34174.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927759	0.52759	.	.	ENSG00000134056	ENST00000256441	.	.	.	5.49	4.43	0.53597	.	0.250556	0.36854	N	0.002374	T	0.42607	0.1210	L	0.29908	0.895	0.53688	D	0.999973	P	0.36249	0.545	B	0.41988	0.372	T	0.42327	-0.9458	9	0.62326	D	0.03	-2.6775	7.3681	0.26785	0.2318:0.0:0.7682:0.0	.	41	P82909	RT36_HUMAN	I	41	.	ENSP00000256441:R41I	R	+	2	0	MRPS36	68559798	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	2.502000	0.45398	2.575000	0.86900	0.460000	0.39030	AGA	MRPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368940.1		+	ENST00000256441.4	Missense_Mutation	SNP	5 : 68524042 - 68524042 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	295	46
ZZZ3	26009	broad.mit.edu	37	1	78031830	78031830	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78031830G>A	ENST00000370801.3	-	14	2978	c.2503C>T	c.(2503-2505)Cgg>Tgg	p.R835W	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.R341W	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	835					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CAATGCCACCGAACACCCTGG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	58	59			NA	NA	1		NA											NA				78031830		2203	4300	6503	SO:0001583	missense			AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549	26009	26009		Zinc fingers, ZZ-type	24523	protein-coding gene	gene with protein product	ATAC component 1 homolog (Drosophila)				NA	16428443, 21304275	Standard	NM_015534	NM_015534	NA	Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.2503C>T	1.37:g.78031830G>A	ENSP00000359837:p.Arg835Trp	NA	B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	37	CCDS677.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.102886	0.56183	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	D;D	0.96554	-4.05;-4.05	5.23	4.3	0.51218	Zinc finger, ZZ-type (4);	0.000000	0.64402	D	0.000001	D	0.98182	0.9399	M	0.92077	3.27	0.80722	D	1	D;D;D	0.76494	0.998;0.997;0.999	P;D;D	0.65987	0.809;0.94;0.917	D	0.99167	1.0863	10	0.87932	D	0	.	16.0294	0.80567	0.0:0.1346:0.8654:0.0	.	341;835;834	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	W	835;341	ENSP00000359837:R835W;ENSP00000359834:R341W	ENSP00000359834:R341W	R	-	1	2	ZZZ3	77804418	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	7.698000	0.84413	1.301000	0.44836	0.655000	0.94253	CGG	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026615.1		-	ENST00000370801.3	Missense_Mutation	SNP	1 : 78031830 - 78031830 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	102	21
KIAA1324	57535	broad.mit.edu	37	1	109714519	109714519	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109714519G>A	ENST00000369939.3	+	4	682	c.499G>A	c.(499-501)Gcc>Acc	p.A167T	KIAA1324_ENST00000529753.1_Missense_Mutation_p.A167T	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	167					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CGACTACATCGCCTCCAACAC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	81	88			NA	NA	1		NA											NA				109714519		2203	4300	6503	SO:0001583	missense			AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299	57535	57535			29618	protein-coding gene	gene with protein product	estrogen induced gene 121	611298			NA	10718198, 16322283	Standard	NM_020775	NM_020775	NA	Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.499G>A	1.37:g.109714519G>A	ENSP00000358955:p.Ala167Thr	NA	Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	37	CCDS794.1	.	.	.	.	.	.	.	.	.	.	g	4.897	0.166757	0.09339	.	.	ENSG00000116299	ENST00000531664;ENST00000369939;ENST00000457623;ENST00000529753	T;T;T;T	0.44083	1.56;0.93;0.93;0.93	5.99	1.81	0.25067	.	0.348105	0.32533	N	0.005968	T	0.14270	0.0345	L	0.40543	1.245	0.23751	N	0.996942	B;B;B;B	0.20671	0.018;0.047;0.011;0.011	B;B;B;B	0.17433	0.006;0.018;0.009;0.009	T	0.30208	-0.9986	10	0.19147	T	0.46	-15.5327	14.3279	0.66532	0.0659:0.0:0.8093:0.1248	.	167;167;167;167	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	T	167	ENSP00000431349:A167T;ENSP00000358955:A167T;ENSP00000393964:A167T;ENSP00000434595:A167T	ENSP00000358955:A167T	A	+	1	0	KIAA1324	109516042	1.000000	0.71417	0.998000	0.56505	0.564000	0.35744	2.737000	0.47393	0.051000	0.15978	-0.127000	0.14921	GCC	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032389.2		+	ENST00000369939.3	Missense_Mutation	SNP	1 : 109714519 - 109714519 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	316	28
KANSL3	55683	broad.mit.edu	37	2	97268076	97268076	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97268076C>T	ENST00000431828.1	-	19	2336		c.e19-1		KANSL3_ENST00000599854.1_Splice_Site|KANSL3_ENST00000487070.1_Intron|KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000440133.1_Splice_Site			Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	NA											NA						CACTGGTGGCCTGTGGGACAC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	24	23			NA	NA	2		NA											NA				97268076		2047	4194	6241	SO:0001630	splice_region_variant			BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982	55683	55683			25473	protein-coding gene	gene with protein product			KIAA1310	KIAA1310	NA		Standard	NM_017991	NM_001115016	NA	Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.2260-1G>A	2.37:g.97268076C>T		NA	A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	37	CCDS46361.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.849365	0.71603	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000440133;ENST00000444759	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5727	0.76352	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA1310	96631803	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.928000	0.70088	2.738000	0.93877	0.655000	0.94253	.	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339040.2	Intron	-	ENST00000431828.1	Splice_Site	SNP	2 : 97268076 - 97268076 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	83	12
KANK4	163782	broad.mit.edu	37	1	62739298	62739298	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:62739298C>A	ENST00000371153.4	-	3	1856	c.1478G>T	c.(1477-1479)aGc>aTc	p.S493I	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	493										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GGAGAGGAAGCTATGTACAGA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	97	97			NA	NA	1		NA											NA				62739298		2203	4300	6503	SO:0001583	missense			AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854	163782	163782		KN motif and ankyrin repeat domain containing, Ankyrin repeat domain containing	27263	protein-coding gene	gene with protein product		614612	ankyrin repeat domain 38	ANKRD38	NA	17996375, 19554261	Standard	NM_181712	NM_181712	NA	Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.1478G>T	1.37:g.62739298C>A	ENSP00000360195:p.Ser493Ile	NA	B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	37	CCDS620.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305397	0.60305	.	.	ENSG00000132854	ENST00000371153	T	0.50277	0.75	4.63	4.63	0.57726	.	0.000000	0.45126	D	0.000394	T	0.64193	0.2576	M	0.64997	1.995	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.65985	-0.6035	10	0.62326	D	0.03	-21.4958	13.195	0.59732	0.0:1.0:0.0:0.0	.	493	Q5T7N3	KANK4_HUMAN	I	493	ENSP00000360195:S493I	ENSP00000360195:S493I	S	-	2	0	KANK4	62511886	0.999000	0.42202	0.996000	0.52242	0.365000	0.29674	2.290000	0.43531	2.563000	0.86464	0.655000	0.94253	AGC	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000024877.1		-	ENST00000371153.4	Missense_Mutation	SNP	1 : 62739298 - 62739298 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	601	129
EPHA10	284656	broad.mit.edu	37	1	38185149	38185149	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38185149C>A	ENST00000373048.4	-	15	2692	c.2693G>T	c.(2692-2694)aGc>aTc	p.S898I	EPHA10_ENST00000540011.1_Intron|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000330210.7_Missense_Mutation_p.S393I|EPHA10_ENST00000427468.2_Missense_Mutation_p.S898I	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	898	Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCTCAGGATGCTGTGGATCTG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	55	52			NA	NA	1		NA											NA				38185149		2057	4197	6254	SO:0001583	missense			AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317	284656	284656		EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	19987	protein-coding gene	gene with protein product		611123			NA	12477932	Standard	NM_173641	NM_001099439	NA	Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.2693G>T	1.37:g.38185149C>A	ENSP00000362139:p.Ser898Ile	NA	A4FU89|Q6NW42	37	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400763	0.62177	.	.	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000373048	D;D;D	0.83506	-1.73;-1.73;-1.73	5.04	2.92	0.33932	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.616022	0.13585	N	0.377082	D	0.82444	0.5038	L	0.57130	1.785	0.80722	D	1	P	0.45474	0.859	P	0.49829	0.623	T	0.81006	-0.1128	10	0.87932	D	0	.	5.1972	0.15245	0.0:0.6077:0.1722:0.2201	.	898	Q5JZY3	EPHAA_HUMAN	I	393;898;898	ENSP00000330379:S393I;ENSP00000397746:S898I;ENSP00000362139:S898I	ENSP00000330379:S393I	S	-	2	0	EPHA10	37957736	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	0.617000	0.24359	1.163000	0.42636	0.491000	0.48974	AGC	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000012497.2		-	ENST00000373048.4	Missense_Mutation	SNP	1 : 38185149 - 38185149 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	236	58
DMD	1756	broad.mit.edu	37	X	32841471	32841471	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:32841471C>T	ENST00000357033.4	-	5	504	c.298G>A	c.(298-300)Gta>Ata	p.V100I	DMD_ENST00000288447.4_Missense_Mutation_p.V92I|DMD_ENST00000378677.2_Missense_Mutation_p.V96I	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	100	Actin-binding.|CH 1.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTTCCATCTACGATGTCAGTA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	145	149			NA	NA	X		NA											NA				32841471		2202	4300	6502	SO:0001583	missense			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947	1756	1756			2928	protein-coding gene	gene with protein product	muscular dystrophy, Duchenne and Becker types	300377	dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, mental retardation, X-linked 85	MRX85	NA	3282674, 3607877, 23900271	Standard	NM_004006	NM_004019	NA	Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.298G>A	X.37:g.32841471C>T	ENSP00000354923:p.Val100Ile	NA	Q02295|Q14169|Q14170|Q5JYU0|Q7KZ48|Q9UCW3|Q9UCW4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931665	0.92389	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000288447;ENST00000447523	D;D;D;D	0.95622	-3.76;-3.76;-3.76;-3.76	5.68	5.68	0.88126	Actinin-type, actin-binding, conserved site (1);Calponin homology domain (5);	0.000000	0.33457	U	0.004883	D	0.97723	0.9253	M	0.79614	2.46	0.80722	D	1	D;D;D;D	0.89917	0.997;0.996;1.0;0.997	P;P;D;P	0.85130	0.732;0.612;0.997;0.732	D	0.98391	1.0563	10	0.87932	D	0	.	18.8699	0.92309	0.0:1.0:0.0:0.0	.	92;92;100;96	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	I	92;96;100;100;92;63	ENSP00000367948:V96I;ENSP00000354923:V100I;ENSP00000288447:V92I;ENSP00000395904:V63I	ENSP00000288447:V92I	V	-	1	0	DMD	32751392	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.487000	0.81328	2.403000	0.81681	0.523000	0.50628	GTA	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056182.2		-	ENST00000357033.4	Missense_Mutation	SNP	X : 32841471 - 32841471 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	337	94
CLIP2	7461	broad.mit.edu	37	7	73790432	73790432	+	Silent	SNP	C	C	T	rs138546692		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73790432C>T	ENST00000361545.5	+	9	1923	c.1596C>T	c.(1594-1596)taC>taT	p.Y532Y	CLIP2_ENST00000223398.6_Silent_p.Y567Y|CLIP2_ENST00000395060.1_Silent_p.Y567Y	NM_032421.2	NP_115797	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	567						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GGGATAAATACGAGAAGGCCC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	0,4406		0,0,2203	29	32	31		1701,1596	2.2	1	7	dbSNP_134	31	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CLIP2	NM_003388.4,NM_032421.2	,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,	567/1047,532/1012	73790432	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665	7461	7461			2586	protein-coding gene	gene with protein product		603432	cytoplasmic linker 2, Williams-Beuren syndrome chromosome region 3	WBSCR4, CYLN2, WBSCR3	NA	8812460, 9799601	Standard	NM_003388	NM_003388	NA	Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000361545.5:c.1596C>T	7.37:g.73790432C>T		NA	O14527|O43611	37	CCDS5570.1																																																																																			CLIP2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252555.1		+	ENST00000361545.5	Silent	SNP	7 : 73790432 - 73790432 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	227	38
SAMD9	54809	broad.mit.edu	37	7	92735170	92735170	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92735170C>T	ENST00000379958.2	-	3	510	c.241G>A	c.(241-243)Gat>Aat	p.D81N		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	81						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TGAATCGAATCTTCAATGGCT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	160	161			NA	NA	7		NA											NA				92735170		2203	4300	6503	SO:0001583	missense			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413	54809	54809		Sterile alpha motif (SAM) domain containing	1348	protein-coding gene	gene with protein product		610456	chromosome 7 open reading frame 5	C7orf5	NA		Standard	NM_017654	NM_017654	NA	Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.241G>A	7.37:g.92735170C>T	ENSP00000369292:p.Asp81Asn	NA	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	37	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	C	3.196	-0.164680	0.06502	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.22336	1.96;2.77	4.6	-1.92	0.07618	.	1.084970	0.07229	N	0.862159	T	0.10981	0.0268	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38929	-0.9638	10	0.09338	T	0.73	.	6.1642	0.20380	0.1447:0.2554:0.0:0.5999	.	81	Q5K651	SAMD9_HUMAN	N	81	ENSP00000369292:D81N;ENSP00000414529:D81N	ENSP00000369292:D81N	D	-	1	0	SAMD9	92573106	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.208000	0.03005	-0.177000	0.10690	-0.924000	0.02725	GAT	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341761.1		-	ENST00000379958.2	Missense_Mutation	SNP	7 : 92735170 - 92735170 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	777	163
CNTNAP4	85445	broad.mit.edu	37	16	76569448	76569448	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:76569448C>T	ENST00000476707.1	+	17	2910	c.2771C>T	c.(2770-2772)aCg>aTg	p.T924M	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.T848M|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.T872M|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.T920M			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	921	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTAGGTGGAACGGCCACCAGA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	57	56			NA	NA	16		NA											NA				76569448		2190	4299	6489	SO:0001583	missense			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910	85445	85445			18747	protein-coding gene	gene with protein product		610518			NA	12093160	Standard	NM_033401	NM_033401	NA	Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2771C>T	16.37:g.76569448C>T	ENSP00000417628:p.Thr924Met	NA		37		.	.	.	.	.	.	.	.	.	.	C	23.9	4.475060	0.84640	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.18	5.18	0.71444	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.42821	D	0.000641	T	0.71178	0.3309	.	.	.	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.994;0.99;0.997	T	0.74636	-0.3599	9	0.87932	D	0	.	18.8927	0.92412	0.0:1.0:0.0:0.0	.	848;924;921	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	M	920;872;848;924	ENSP00000306893:T920M;ENSP00000439733:T872M;ENSP00000418741:T848M;ENSP00000417628:T924M	ENSP00000306893:T920M	T	+	2	0	CNTNAP4	75126949	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.651000	0.83577	2.687000	0.91594	0.655000	0.94253	ACG	CNTNAP4-005	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000348216.1		+	ENST00000476707.1	Missense_Mutation	SNP	16 : 76569448 - 76569448 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	52
LYG1	129530	broad.mit.edu	37	2	99909020	99909020	+	Missense_Mutation	SNP	G	G	A	rs149258901	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99909020G>A	ENST00000409448.1	-	5	443	c.127C>T	c.(127-129)Cgt>Tgt	p.R43C	LYG1_ENST00000308528.4_Missense_Mutation_p.R43C			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	43					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						AGGCCGTGACGTCTTCCAATC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	178	166	170		127	-0.6	0	2	dbSNP_134	170	1,8599	1.2+/-3.3	0,1,4299	yes	missense	LYG1	NM_174898.2	180	0,4,6499	AA,AG,GG	NA	0.0116,0.0681,0.0308	benign	43/195	99909020	4,13002	2203	4300	6503	SO:0001583	missense			BC029126	CCDS2043.1	2q11.2	2008-02-05			ENSG00000144214	ENSG00000144214	129530	129530			27014	protein-coding gene	gene with protein product					NA	12574869	Standard	NM_174898	NM_174898	NA	Approved	SALW1939	uc002szy.3	Q8N1E2	OTTHUMG00000130639	ENST00000409448.1:c.127C>T	2.37:g.99909020G>A	ENSP00000386923:p.Arg43Cys	NA	Q53RV9	37	CCDS2043.1	.	.	.	.	.	.	.	.	.	.	G	5.387	0.256644	0.10185	6.81E-4	1.16E-4	ENSG00000144214	ENST00000308528;ENST00000409448	.	.	.	5.07	-0.638	0.11500	Lysozyme-like domain (1);	0.951849	0.08712	N	0.904759	T	0.29850	0.0746	L	0.51422	1.61	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.29243	-1.0018	8	.	.	.	-2.7594	1.3392	0.02151	0.2605:0.1757:0.4246:0.1392	.	43	Q8N1E2	LYG1_HUMAN	C	43	.	.	R	-	1	0	LYG1	99275452	0.152000	0.22762	0.007000	0.13788	0.007000	0.05969	1.098000	0.31000	0.013000	0.14918	-0.742000	0.03525	CGT	LYG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330315.1		-	ENST00000409448.1	Missense_Mutation	SNP	2 : 99909020 - 99909020 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	537	91
ZCWPW1	55063	broad.mit.edu	37	7	100006173	100006173	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100006173G>A	ENST00000490721.1	-	7	1055	c.618C>T	c.(616-618)taC>taT	p.Y206Y	ZCWPW1_ENST00000324725.6_Silent_p.Y206Y|ZCWPW1_ENST00000398027.2_Silent_p.Y326Y|ZCWPW1_ENST00000360951.4_Silent_p.Y327Y			Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	326							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGGGTAACCGTATTGCTTGG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	148	149			NA	NA	7		NA											NA				100006173		2004	4163	6167	SO:0001819	synonymous_variant			AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487	55063	55063			23486	protein-coding gene	gene with protein product			zinc finger, CW-type with PWWP domain 1		NA	11230166, 14607086, 20826339	Standard	NM_017984	NM_017984	NA	Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000490721.1:c.618C>T	7.37:g.100006173G>A		NA	A8MVF5|Q8NA98|Q9BUD0|Q9NWF7	37																																																																																				ZCWPW1-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000356086.1		-	ENST00000490721.1	Silent	SNP	7 : 100006173 - 100006173 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	602	109
C1S	716	broad.mit.edu	37	12	7177355	7177355	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7177355C>T	ENST00000402681.3	+	11	1613	c.966C>T	c.(964-966)tcC>tcT	p.S322S	C1S_ENST00000328916.3_Silent_p.S489S|C1S_ENST00000495061.1_3'UTR|C1S_ENST00000360817.5_Silent_p.S489S|C1S_ENST00000406697.1_Silent_p.S489S			P09871	C1S_HUMAN	complement component 1, s subcomponent	489	Sushi 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	ATGTTGGGTCCACCTCAGTGC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(156;750 1943 12971 24779 31015)							NA				0													57	50	52			NA	NA	12		NA											NA				7177355		2203	4300	6503	SO:0001819	synonymous_variant				CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	716	716	3.4.21.42	Complement system	1247	protein-coding gene	gene with protein product		120580			NA		Standard	NM_001734	NM_201442	NA	Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000402681.3:c.966C>T	12.37:g.7177355C>T		NA	D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	37																																																																																				C1S-017	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000401825.1		+	ENST00000402681.3	Silent	SNP	12 : 7177355 - 7177355 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	177	26
VAC14	55697	broad.mit.edu	37	16	70815788	70815788	+	Silent	SNP	G	G	A	rs145425796		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70815788G>A	ENST00000261776.5	-	8	1190	c.930C>T	c.(928-930)taC>taT	p.Y310Y		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	310					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TGCGGTCATCGTAGGCCAAGC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4396		0,0,2198	55	53	54		930	-3.4	0.9	16	dbSNP_134	54	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	VAC14	NM_018052.3		0,2,6496	AA,AG,GG	NA	0.0233,0.0,0.0154		310/783	70815788	2,12994	2198	4300	6498	SO:0001819	synonymous_variant			AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043	55697	55697			25507	protein-coding gene	gene with protein product		604632	Tax1 (human T-cell leukemia virus type I) binding protein 2	TAX1BP2	NA	15542851, 12719380	Standard	NM_018052	NM_018052	NA	Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.930C>T	16.37:g.70815788G>A		NA	B3KPJ5|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	37	CCDS10896.1																																																																																			VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268973.3		-	ENST00000261776.5	Silent	SNP	16 : 70815788 - 70815788 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	332	35
TRRAP	8295	broad.mit.edu	37	7	98565232	98565232	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98565232C>T	ENST00000446306.3	+	48	7409	c.7348C>T	c.(7348-7350)Cgt>Tgt	p.R2450C	TRRAP_ENST00000355540.3_Missense_Mutation_p.R2450C|TRRAP_ENST00000359863.4_Missense_Mutation_p.R2468C			Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2468					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTCCATGAAACGTCGTGTCTA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	75	80			NA	NA	7		NA											NA				98565232		2203	4300	6503	SO:0001583	missense			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367	8295	8295			12347	protein-coding gene	gene with protein product		603015			NA	9708738, 9885574	Standard	NM_003496	NM_003496	NA	Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000446306.3:c.7348C>T	7.37:g.98565232C>T	ENSP00000403708:p.Arg2450Cys	NA	A4D265|O75218|Q9Y631|Q9Y6H4	37		.	.	.	.	.	.	.	.	.	.	C	35	5.537194	0.96460	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.03386	3.95;3.95	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.20414	0.0491	M	0.75085	2.285	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.69824	0.966;0.88;0.932	T	0.00002	-1.2633	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	2450;2189;2468	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	C	2468;2450;2449	ENSP00000352925:R2468C;ENSP00000347733:R2450C	ENSP00000347733:R2450C	R	+	1	0	TRRAP	98403168	1.000000	0.71417	0.988000	0.46212	0.984000	0.73092	5.970000	0.70431	2.941000	0.99782	0.655000	0.94253	CGT	TRRAP-004	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000317981.3		+	ENST00000446306.3	Missense_Mutation	SNP	7 : 98565232 - 98565232 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	411	28
C20orf26	0	broad.mit.edu	37	20	20279025	20279025	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20279025C>T	ENST00000245957.5	+	25	3493	c.3417C>T	c.(3415-3417)ctC>ctT	p.L1139L	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		1139										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TCACAGATCTCTATAGGTGAG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	53	55			NA	NA	20		NA											NA				20279025		2203	4300	6503	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000245957.5:c.3417C>T	20.37:g.20279025C>T		NA	A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	37	CCDS33447.1																																																																																			C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078228.3		+	ENST00000245957.5	Silent	SNP	20 : 20279025 - 20279025 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	160	27
NEDD4	4734	broad.mit.edu	37	15	56132913	56132913	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56132913G>A	ENST00000506154.1	-	16	3336	c.3060C>T	c.(3058-3060)acC>acT	p.T1020T	NEDD4_ENST00000435532.3_Silent_p.T617T|NEDD4_ENST00000338963.2_Silent_p.T964T|NEDD4_ENST00000508342.1_Silent_p.T1036T	NM_001284339.1	NP_001271268.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1036	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTATCTGTAGGGTATAATTGT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	138	135			NA	NA	15		NA											NA				56132913		2193	4292	6485	SO:0001819	synonymous_variant			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869	4734	4734			7727	protein-coding gene	gene with protein product	receptor-potentiating factor 1	602278	neural precursor cell expressed, developmentally down-regulated 4		NA	9073511, 8649367	Standard	NM_198400	XR_243101	NA	Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000506154.1:c.3060C>T	15.37:g.56132913G>A		NA	A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	37		.	.	.	.	.	.	.	.	.	.	G	8.466	0.856497	0.17106	.	.	ENSG00000069869	ENST00000508871	.	.	.	5.96	3.05	0.35203	.	.	.	.	.	T	0.51890	0.1701	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40869	-0.9540	4	.	.	.	.	4.4455	0.11595	0.2991:0.0:0.5536:0.1473	.	.	.	.	L	627	.	.	P	-	2	0	NEDD4	53920205	0.658000	0.27402	0.998000	0.56505	0.998000	0.95712	-0.196000	0.09532	0.398000	0.25338	0.655000	0.94253	CCC	NEDD4-003	KNOWN	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000359818.1		-	ENST00000506154.1	Silent	SNP	15 : 56132913 - 56132913 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	760	64
AKAP7	9465	broad.mit.edu	37	6	131486247	131486247	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131486247G>T	ENST00000431975.2	+	4	416	c.318G>T	c.(316-318)caG>caT	p.Q106H	AKAP7_ENST00000368123.4_Missense_Mutation_p.Q84H|AKAP7_ENST00000366358.2_3'UTR|AKAP7_ENST00000541650.1_Missense_Mutation_p.Q105H	NM_016377.3	NP_057461.2	O43687	AKA7A_HUMAN	A kinase (PRKA) anchor protein 7	0					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		AGATCCTGCAGAATGCAATAA	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	81	82			NA	NA	6		NA											NA				131486247		2203	4300	6503	SO:0001583	missense			AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507	9465	9465		A-kinase anchor proteins	377	protein-coding gene	gene with protein product		604693			NA	9545239	Standard	NM_004842	NM_016377	NA	Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.318G>T	6.37:g.131486247G>T	ENSP00000405252:p.Gln106His	NA	A8K2K6|Q5TBR9|Q5TBS0|Q9HCZ8|Q9P0G4	37	CCDS5142.2	.	.	.	.	.	.	.	.	.	.	g	13.98	2.398757	0.42512	.	.	ENSG00000118507	ENST00000431975;ENST00000541650;ENST00000368123	T;T;T	0.70045	-0.45;-0.45;-0.45	5.8	0.68	0.17980	RNA ligase/cyclic nucleotide phosphodiesterase (1);Protein kinase A anchor protein, nuclear localisation signal domain (1);	0.000000	0.85682	D	0.000000	T	0.71056	0.3295	M	0.80746	2.51	0.36895	D	0.890105	D	0.76494	0.999	D	0.77004	0.989	T	0.72616	-0.4239	10	0.66056	D	0.02	-9.2246	8.3215	0.32132	0.6761:0.0:0.3239:0.0	.	106	Q9P0M2	AKA7G_HUMAN	H	106;105;84	ENSP00000405252:Q106H;ENSP00000441048:Q105H;ENSP00000357105:Q84H	ENSP00000357105:Q84H	Q	+	3	2	AKAP7	131527940	0.997000	0.39634	0.641000	0.29422	0.742000	0.42306	0.436000	0.21526	0.125000	0.18397	-0.295000	0.09555	CAG	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042209.2		+	ENST00000431975.2	Missense_Mutation	SNP	6 : 131486247 - 131486247 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	190	33
SLC52A2	79581	broad.mit.edu	37	8	145584275	145584275	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145584275T>C	ENST00000526752.1	+	2	241				SLC52A2_ENST00000530047.1_Missense_Mutation_p.S343P|SLC52A2_ENST00000329994.2_Missense_Mutation_p.S343P|SLC52A2_ENST00000532887.1_Missense_Mutation_p.S343P|SLC52A2_ENST00000527078.1_Missense_Mutation_p.S343P|SLC52A2_ENST00000540505.1_Missense_Mutation_p.S255P|SLC52A2_ENST00000402965.1_Missense_Mutation_p.S343P			Q9HAB3	RFT3_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	NA						integral to plasma membrane	receptor activity|riboflavin transporter activity				NA						GGGCGGCCTCTCTCTGCTGGG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	62	59			NA	NA	8		NA											NA				145584275		2203	4300	6503	SO:0001627	intron_variant			AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803	79581	79581		Solute carriers	30224	protein-coding gene	gene with protein product		607882	G protein-coupled receptor 172A	GPR172A	NA	12740431	Standard	NM_024531	NM_024531	NA	Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000526752.1:c.131-188T>C	8.37:g.145584275T>C		NA	A8K6B6|D3DWL8|Q86UT1	37		.	.	.	.	.	.	.	.	.	.	T	13.24	2.178639	0.38511	.	.	ENSG00000185803	ENST00000530047;ENST00000527078;ENST00000402965;ENST00000532887;ENST00000329994;ENST00000540505	T;T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	4.69	2.03	0.26663	.	0.445806	0.24615	N	0.037015	T	0.78704	0.4325	M	0.75615	2.305	0.09310	N	0.999997	P	0.51933	0.949	P	0.53102	0.718	T	0.69924	-0.5013	10	0.66056	D	0.02	.	9.3756	0.38281	0.0:0.0:0.3446:0.6553	.	343	Q9HAB3	RFT3_HUMAN	P	343;343;343;343;343;255	ENSP00000435820:S343P;ENSP00000434728:S343P;ENSP00000385961:S343P;ENSP00000436768:S343P;ENSP00000333638:S343P;ENSP00000440400:S255P	ENSP00000333638:S343P	S	+	1	0	GPR172A	145555083	0.019000	0.18553	0.004000	0.12327	0.402000	0.30811	0.298000	0.19120	0.616000	0.30141	0.379000	0.24179	TCT	SLC52A2-012	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000382410.1		+	ENST00000526752.1	Intron	SNP	8 : 145584275 - 145584275 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	485	127
FAT1	2195	broad.mit.edu	37	4	187630410	187630410	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187630410C>T	ENST00000441802.2	-	2	781	c.572G>A	c.(571-573)cGa>cAa	p.R191Q		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	191	Cadherin 2.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CATATCTGTTCGATCTTTAAA	0.433		NA								HNSCC(5;0.00058)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(197;1040 2055 4143 4984 49344)							NA				0													117	118	118			NA	NA	4		NA											NA				187630410		2109	4247	6356	SO:0001583	missense			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857	2195	2195		Cadherins / Cadherin-related	3595	protein-coding gene	gene with protein product	cadherin-related family member 8	600976	FAT tumor suppressor (Drosophila) homolog, FAT tumor suppressor homolog 1 (Drosophila)	FAT	NA	8586420	Standard	NM_005245	XM_005262834	NA	Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.572G>A	4.37:g.187630410C>T	ENSP00000406229:p.Arg191Gln	NA		37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388905	0.82902	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509647	T;T	0.60299	0.2;0.2	5.2	5.2	0.72013	Cadherin (4);Cadherin-like (1);	0.123299	0.56097	D	0.000030	T	0.54902	0.1887	N	0.19112	0.55	0.47476	D	0.999434	D	0.59767	0.986	P	0.54590	0.756	T	0.46247	-0.9205	10	0.14252	T	0.57	.	18.5053	0.90894	0.0:1.0:0.0:0.0	.	191	Q14517	FAT1_HUMAN	Q	191	ENSP00000406229:R191Q;ENSP00000423736:R191Q	ENSP00000260147:R191Q	R	-	2	0	FAT1	187867404	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.909000	0.56363	2.704000	0.92352	0.591000	0.81541	CGA	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360209.3		-	ENST00000441802.2	Missense_Mutation	SNP	4 : 187630410 - 187630410 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	548	67
SMG7	9887	broad.mit.edu	37	1	183513549	183513549	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183513549C>T	ENST00000367537.3	+	16	2048	c.1853C>T	c.(1852-1854)aCt>aTt	p.T618I	SMG7_ENST00000507469.1_Missense_Mutation_p.T589I|SMG7_ENST00000508461.1_Missense_Mutation_p.T593I|SMG7_ENST00000347615.2_Missense_Mutation_p.T635I|SMG7_ENST00000515829.2_Missense_Mutation_p.T589I|SMG7_ENST00000456731.2_Missense_Mutation_p.T547I			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	635					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						ACACCTGTAACTCAAACCCCA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	117	120			NA	NA	1		NA											NA				183513549		2203	4300	6503	SO:0001583	missense			D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698	9887	9887			16792	protein-coding gene	gene with protein product	EST1 telomerase component homolog C (S. cerevisiae)	610964	chromosome 1 open reading frame 16, smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)	C1orf16	NA	14636577, 15721257	Standard	NM_014837	NM_173156	NA	Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000367537.3:c.1853C>T	1.37:g.183513549C>T	ENSP00000356507:p.Thr618Ile	NA	Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	37		.	.	.	.	.	.	.	.	.	.	C	21.9	4.221780	0.79464	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5	5.91	5.91	0.95273	.	0.095984	0.64402	D	0.000001	T	0.64360	0.2591	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;P	0.76494	0.999;0.998;0.998;0.999;0.999;0.624	D;D;D;D;D;B	0.80764	0.991;0.987;0.987;0.994;0.991;0.206	T	0.61997	-0.6947	10	0.44086	T	0.13	-4.6888	20.2985	0.98592	0.0:1.0:0.0:0.0	.	593;618;547;589;635;589	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	I	547;618;593;547;635;589;589	ENSP00000407629:T547I;ENSP00000356507:T618I;ENSP00000426915:T593I;ENSP00000388390:T547I;ENSP00000340766:T635I;ENSP00000425133:T589I;ENSP00000421358:T589I	ENSP00000340766:T635I	T	+	2	0	SMG7	181780172	1.000000	0.71417	0.998000	0.56505	0.896000	0.52359	5.507000	0.66999	2.793000	0.96121	0.655000	0.94253	ACT	SMG7-001	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000085204.3		+	ENST00000367537.3	Missense_Mutation	SNP	1 : 183513549 - 183513549 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	526	143
LAMA2	3908	broad.mit.edu	37	6	129612818	129612818	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129612818T>G	ENST00000421865.2	+	20	2858	c.2809T>G	c.(2809-2811)Tgt>Ggt	p.C937G		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	937	Laminin EGF-like 9.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AACTGGACAGTGTGAGTGCAG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	89	94			NA	NA	6		NA											NA				129612818		2203	4300	6503	SO:0001583	missense			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569	3908	3908		Laminins	6482	protein-coding gene	gene with protein product	merosin, congenital muscular dystrophy	156225		LAMM	NA	2185464, 8294519	Standard		NM_000426	NA	Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2809T>G	6.37:g.129612818T>G	ENSP00000400365:p.Cys937Gly	NA	Q14736|Q5VUM2|Q93022	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.158311	0.57368	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	D	0.94280	-3.39	5.56	5.56	0.83823	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.98257	0.9423	H	0.99143	4.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99828	1.1052	10	0.87932	D	0	.	16.0068	0.80367	0.0:0.0:0.0:1.0	.	937;937	A6NF00;P24043	.;LAMA2_HUMAN	G	937	ENSP00000400365:C937G	ENSP00000346769:C937G	C	+	1	0	LAMA2	129654511	1.000000	0.71417	0.984000	0.44739	0.041000	0.13682	7.696000	0.84270	2.241000	0.73720	0.482000	0.46254	TGT	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042180.1		+	ENST00000421865.2	Missense_Mutation	SNP	6 : 129612818 - 129612818 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	192	43
NBEAL1	65065	broad.mit.edu	37	2	204032000	204032000	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204032000C>A	ENST00000449802.1	+	37	6160	c.5827C>A	c.(5827-5829)Ctc>Atc	p.L1943I		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1943							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AGAGATTCATCTCCGGCGTTA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	118	121			NA	NA	2		NA											NA				204032000		1813	4084	5897	SO:0001583	missense			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426	65065	65065		WD repeat domain containing	20681	protein-coding gene	gene with protein product		609816	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17, amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16	ALS2CR17, ALS2CR16	NA	15193433	Standard		NM_001114132	NA	Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.5827C>A	2.37:g.204032000C>A	ENSP00000399903:p.Leu1943Ile	NA	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	37	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.734574	0.69189	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.56275	0.47	5.29	-1.69	0.08186	PH-BEACH domain (1);	0.144540	0.46758	D	0.000266	T	0.67268	0.2875	M	0.81497	2.545	0.50467	D	0.999871	D;D	0.69078	0.997;0.997	D;D	0.78314	0.991;0.991	T	0.66200	-0.5983	10	0.26408	T	0.33	.	12.7381	0.57236	0.0:0.2437:0.0:0.7563	.	1943;1932	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	I	1943	ENSP00000399903:L1943I	ENSP00000344985:L1943I	L	+	1	0	NBEAL1	203740245	0.839000	0.29477	0.359000	0.25824	0.897000	0.52465	0.416000	0.21198	-0.285000	0.09089	0.563000	0.77884	CTC	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333982.4		+	ENST00000449802.1	Missense_Mutation	SNP	2 : 204032000 - 204032000 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	618	101
KCNK3	3777	broad.mit.edu	37	2	26916011	26916011	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26916011G>A	ENST00000302909.3	+	1	393	c.268G>A	c.(268-270)Gtc>Atc	p.V90I		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	90					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCCATCACCGTCATCACCAC	0.746		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(80;1457 1631 27100 45946)							NA				0													16	18	17			NA	NA	2		NA											NA				26916011		2151	4237	6388	SO:0001583	missense			AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303	3777	3777		Potassium channels, Voltage-gated ion channels / Potassium channels, Two-P	6278	protein-coding gene	gene with protein product		603220			NA	9312005, 9721223, 16382106	Standard	NM_002246	NM_002246	NA	Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.268G>A	2.37:g.26916011G>A	ENSP00000306275:p.Val90Ile	NA	Q53SU2	37	CCDS1727.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419167	0.83559	.	.	ENSG00000171303	ENST00000302909	T	0.24908	1.83	3.15	3.15	0.36227	Ion transport 2 (1);	0.000000	0.64402	D	0.000006	T	0.43211	0.1237	L	0.53561	1.675	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.41840	-0.9486	10	0.87932	D	0	.	11.793	0.52080	0.0:0.0:1.0:0.0	.	90	O14649	KCNK3_HUMAN	I	90	ENSP00000306275:V90I	ENSP00000306275:V90I	V	+	1	0	KCNK3	26769515	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	8.776000	0.91776	1.625000	0.50366	0.305000	0.20034	GTC	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000246861.2		+	ENST00000302909.3	Missense_Mutation	SNP	2 : 26916011 - 26916011 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	256	126
TPP2	7174	broad.mit.edu	37	13	103249462	103249462	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103249462C>A	ENST00000376052.3	+	1	90	c.74C>A	c.(73-75)tCc>tAc	p.S25Y	TPP2_ENST00000376065.4_Missense_Mutation_p.S25Y			P29144	TPP2_HUMAN	tripeptidyl peptidase II	25					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGAGCCGCCTCCTTCCTCTGC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	16	15			NA	NA	13		NA											NA				103249462		2167	4244	6411	SO:0001583	missense			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	7174	7174	3.4.14.10		12016	protein-coding gene	gene with protein product		190470			NA	1670990	Standard		NM_003291	NA	Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376052.3:c.74C>A	13.37:g.103249462C>A	ENSP00000365220:p.Ser25Tyr	NA	Q5VZU8	37		.	.	.	.	.	.	.	.	.	.	C	19.50	3.839087	0.71373	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	T;T	0.45276	0.9;0.9	5.37	4.53	0.55603	Peptidase S8/S53, subtilisin/kexin/sedolisin (1);	0.349320	0.30501	N	0.009485	T	0.33876	0.0878	L	0.48642	1.525	0.49299	D	0.999778	P	0.39576	0.679	B	0.35413	0.202	T	0.20174	-1.0283	10	0.66056	D	0.02	.	9.7119	0.40251	0.0:0.7857:0.1404:0.0739	.	25	P29144	TPP2_HUMAN	Y	25	ENSP00000365233:S25Y;ENSP00000365220:S25Y	ENSP00000365220:S25Y	S	+	2	0	TPP2	102047463	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	4.876000	0.63079	1.261000	0.44149	0.650000	0.86243	TCC	TPP2-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000045684.2		+	ENST00000376052.3	Missense_Mutation	SNP	13 : 103249462 - 103249462 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	148	31
TOE1	114034	broad.mit.edu	37	1	45806997	45806997	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45806997G>T	ENST00000372090.5	+	3	801	c.218G>T	c.(217-219)aGg>aTg	p.R73M	TOE1_ENST00000495703.1_3'UTR|TOE1_ENST00000539779.1_Missense_Mutation_p.Q25H	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	73						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					CTTGGGGACAGGAAGAGTTTG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	84	83			NA	NA	1		NA											NA				45806997		2203	4300	6503	SO:0001583	missense				CCDS521.1	1p33	2011-02-03			ENSG00000132773	ENSG00000132773	114034	114034			15954	protein-coding gene	gene with protein product		613931			NA	12562764	Standard	NM_025077	NM_025077	NA	Approved		uc009vxq.3	Q96GM8	OTTHUMG00000007678	ENST00000372090.5:c.218G>T	1.37:g.45806997G>T	ENSP00000361162:p.Arg73Met	NA	Q6IA35|Q8IWN5|Q9H846	37	CCDS521.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.070978|5.070978	0.93950|0.93950	.|.	.|.	ENSG00000132773|ENSG00000132773	ENST00000539779|ENST00000372090	T|T	0.30448|0.24723	1.53|1.84	5.61|5.61	5.61|5.61	0.85477|0.85477	.|Ribonuclease H-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.56659|0.56659	0.2000|0.2000	M|M	0.81682|0.81682	2.555|2.555	0.38079|0.38079	D|D	0.936615|0.936615	P|D;D	0.50819|0.89917	0.939|1.0;1.0	P|D;D	0.57548|0.97110	0.823|1.0;0.998	T|T	0.62338|0.62338	-0.6875|-0.6875	9|10	0.87932|0.72032	D|D	0|0.01	-20.7764|-20.7764	19.5968|19.5968	0.95544|0.95544	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	25|79;73	B4DEM6|B4DP23;Q96GM8	.|.;TOE1_HUMAN	H|M	25|73	ENSP00000438900:Q25H|ENSP00000361162:R73M	ENSP00000438900:Q25H|ENSP00000361162:R73M	Q|R	+|+	3|2	2|0	TOE1|TOE1	45579584|45579584	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	8.669000|8.669000	0.91163|0.91163	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	CAG|AGG	TOE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000020517.1		+	ENST00000372090.5	Missense_Mutation	SNP	1 : 45806997 - 45806997 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	388	71
RP4-539M6.19	0	broad.mit.edu	37	22	30823180	30823180	+	Missense_Mutation	SNP	G	G	A	rs144789689		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30823180G>A	ENST00000439838.1	+	8	734	c.734G>A	c.(733-735)cGc>cAc	p.R245H	MTFP1_ENST00000355143.4_Intron|MTFP1_ENST00000266263.5_Missense_Mutation_p.R73H|MTFP1_ENST00000407550.3_Intron						NA											NA						GAAGCAGGCCGCAGCGCCAGG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	97	98			NA	NA	22		NA											NA				30823180		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000439838.1:c.734G>A	22.37:g.30823180G>A	ENSP00000415178:p.Arg245His	NA		37		.	.	.	.	.	.	.	.	.	.	G	12.77	2.036618	0.35893	.	.	ENSG00000249590;ENSG00000242114	ENST00000439838;ENST00000266263	T	0.69685	-0.42	4.87	4.87	0.63330	.	0.104089	0.64402	D	0.000008	T	0.57257	0.2041	L	0.38531	1.155	0.80722	D	1	B	0.32693	0.38	B	0.31547	0.132	T	0.57636	-0.7777	10	0.36615	T	0.2	-5.8358	15.9659	0.79970	0.0:0.0:1.0:0.0	.	73	Q9UDX5	MTFP1_HUMAN	H	245;73	ENSP00000415178:R245H	ENSP00000266263:R73H	R	+	2	0	MTFP1;RP4-539M6.19	29153180	0.068000	0.21057	1.000000	0.80357	0.257000	0.26127	0.969000	0.29370	2.528000	0.85240	0.655000	0.94253	CGC	RP4-539M6.19-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest|readthrough_transcript	protein_coding	NA	protein_coding	OTTHUMT00000362674.1		+	ENST00000439838.1	Missense_Mutation	SNP	22 : 30823180 - 30823180 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	887	90
ANPEP	290	broad.mit.edu	37	15	90342699	90342699	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90342699C>A	ENST00000300060.6	-	13	2224	c.1911G>T	c.(1909-1911)gaG>gaT	p.E637D	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	637	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	TCCTCCAGTTCTCTTCGTCGT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(30;827 977 2459 19669 26125)							NA				0													137	124	128			NA	NA	15		NA											NA				90342699		2200	4299	6499	SO:0001583	missense			M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	290	290	3.4.11.2	CD molecules	500	protein-coding gene	gene with protein product	aminopeptidase N, aminopeptidase M, microsomal aminopeptidase	151530		CD13, PEPN	NA	2428842, 1977688	Standard		NM_001150	NA	Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.1911G>T	15.37:g.90342699C>A	ENSP00000300060:p.Glu637Asp	NA	Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	37	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	C	2.615	-0.289855	0.05568	.	.	ENSG00000166825	ENST00000300060	T	0.29397	1.57	5.15	0.631	0.17699	.	1.719790	0.02482	N	0.088618	T	0.21227	0.0511	N	0.17631	0.505	0.21719	N	0.999573	B	0.06786	0.001	B	0.15052	0.012	T	0.20806	-1.0264	10	0.10377	T	0.69	.	10.3218	0.43771	0.0:0.5417:0.3197:0.1385	.	637	P15144	AMPN_HUMAN	D	637	ENSP00000300060:E637D	ENSP00000300060:E637D	E	-	3	2	ANPEP	88143703	0.000000	0.05858	0.287000	0.24848	0.281000	0.26958	-0.806000	0.04525	0.154000	0.19237	-0.256000	0.11100	GAG	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313425.1		-	ENST00000300060.6	Missense_Mutation	SNP	15 : 90342699 - 90342699 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	337	14
LPIN1	23175	broad.mit.edu	37	2	11955257	11955257	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11955257A>C	ENST00000396097.1	+	13	1778	c.1375A>C	c.(1375-1377)Atg>Ctg	p.M459L	LPIN1_ENST00000449576.2_Missense_Mutation_p.M814L|LPIN1_ENST00000425416.2_Missense_Mutation_p.M735L|LPIN1_ENST00000404113.2_Missense_Mutation_p.M230L|LPIN1_ENST00000396099.1_Missense_Mutation_p.M771L|LPIN1_ENST00000256720.2_Missense_Mutation_p.M729L			Q14693	LPIN1_HUMAN	lipin 1	729					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TGCCATCGGGATGGCGGACAT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	56	56			NA	NA	2		NA											NA				11955257		2203	4300	6503	SO:0001583	missense			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324	23175	23175			13345	protein-coding gene	gene with protein product		605518			NA	11138012, 8724849, 16950137	Standard	NM_145693	NM_145693	NA	Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000396097.1:c.1375A>C	2.37:g.11955257A>C	ENSP00000379404:p.Met459Leu	NA	Q53T25	37		.	.	.	.	.	.	.	.	.	.	A	28.1	4.886297	0.91814	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113	T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	4.95	4.95	0.65309	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	T	0.80618	0.4657	L	0.41573	1.285	0.80722	D	1	P;D;B	0.67145	0.853;0.996;0.096	P;D;B	0.80764	0.717;0.994;0.345	T	0.81385	-0.0957	10	0.49607	T	0.09	-35.1722	14.6363	0.68692	1.0:0.0:0.0:0.0	.	230;814;729	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	L	814;771;735;729;459;230	ENSP00000397908:M814L;ENSP00000379406:M771L;ENSP00000401522:M735L;ENSP00000256720:M729L;ENSP00000379404:M459L;ENSP00000386120:M230L	ENSP00000256720:M729L	M	+	1	0	LPIN1	11872708	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.780000	0.91799	1.860000	0.53959	0.460000	0.39030	ATG	LPIN1-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000277151.1		+	ENST00000396097.1	Missense_Mutation	SNP	2 : 11955257 - 11955257 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	293	8
CDH6	1004	broad.mit.edu	37	5	31316320	31316320	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:31316320C>T	ENST00000265071.2	+	9	1661	c.1396C>T	c.(1396-1398)Cca>Tca	p.P466S	CDH6_ENST00000514738.1_Missense_Mutation_p.P411S	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	466	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GACAGATAATCCAAAGCAAAG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	56	55			NA	NA	5		NA											NA				31316320		2203	4300	6503	SO:0001583	missense			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361	1004	1004		Cadherins / Major cadherins	1765	protein-coding gene	gene with protein product	K-Cadherin	603007			NA	7743525, 10191097	Standard	NM_004932	NM_004932	NA	Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1396C>T	5.37:g.31316320C>T	ENSP00000265071:p.Pro466Ser	NA	A8K5H5|Q9BWS0	37	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.468432	0.43839	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.56776	0.44;0.44	5.02	4.13	0.48395	Cadherin (4);Cadherin-like (1);	0.102637	0.64402	D	0.000002	T	0.51312	0.1667	L	0.55213	1.73	0.58432	D	0.999999	B;B	0.33857	0.08;0.429	B;B	0.38378	0.074;0.272	T	0.49978	-0.8881	10	0.30078	T	0.28	.	15.1114	0.72359	0.1428:0.8572:0.0:0.0	.	466;466	P55285;P55285-2	CADH6_HUMAN;.	S	411;466	ENSP00000424843:P411S;ENSP00000265071:P466S	ENSP00000265071:P466S	P	+	1	0	CDH6	31352077	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.278000	0.78587	1.444000	0.47605	0.591000	0.81541	CCA	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207355.2		+	ENST00000265071.2	Missense_Mutation	SNP	5 : 31316320 - 31316320 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	41
MYBPC2	4606	broad.mit.edu	37	19	50958825	50958825	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50958825A>G	ENST00000357701.5	+	20	2313	c.2262A>G	c.(2260-2262)acA>acG	p.T754T		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	754	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CCACCACCACACTCAAGTGGA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	96	95			NA	NA	19		NA											NA				50958825		2013	4179	6192	SO:0001819	synonymous_variant				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967	4606	4606		Myosin binding proteins, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	7550	protein-coding gene	gene with protein product	fast-type muscle myosin-binding-protein C	160793	myosin-binding protein C, fast-type		NA	8375400	Standard	NM_004533	NM_004533	NA	Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.2262A>G	19.37:g.50958825A>G		NA	A1L4G9	37	CCDS46152.1																																																																																			MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464751.1		+	ENST00000357701.5	Silent	SNP	19 : 50958825 - 50958825 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	458	97
RASAL1	8437	broad.mit.edu	37	12	113545942	113545942	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113545942C>T	ENST00000546530.1	-	15	1748	c.1463G>A	c.(1462-1464)cGg>cAg	p.R488Q	RASAL1_ENST00000446861.3_Missense_Mutation_p.R487Q|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.R487Q|RASAL1_ENST00000261729.5_Missense_Mutation_p.R487Q	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	487	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GTGTTGGTCCCGAAGGTCAAA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	59	62			NA	NA	12		NA											NA				113545942		2203	4300	6503	SO:0001583	missense			AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344	8437	8437		Pleckstrin homology (PH) domain containing	9873	protein-coding gene	gene with protein product		604118			NA	9751798	Standard	NM_004658	NM_001193520	NA	Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000546530.1:c.1463G>A	12.37:g.113545942C>T	ENSP00000450244:p.Arg488Gln	NA	C9JFK5|Q52M03|Q96CC7	37	CCDS55889.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096439	0.76870	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	5.0	5.0	0.66597	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.110844	0.64402	D	0.000017	T	0.78868	0.4351	L	0.56396	1.775	0.54753	D	0.999981	P;P;P;P;P;P;P	0.52316	0.743;0.532;0.698;0.902;0.852;0.952;0.88	B;B;B;B;B;P;B	0.45971	0.2;0.221;0.126;0.319;0.263;0.499;0.213	T	0.82514	-0.0419	10	0.72032	D	0.01	.	17.116	0.86689	0.0:1.0:0.0:0.0	.	487;487;487;500;488;487;487	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	Q	488;487;487;487	ENSP00000450244:R488Q;ENSP00000261729:R487Q;ENSP00000395920:R487Q;ENSP00000448510:R487Q	ENSP00000261729:R487Q	R	-	2	0	RASAL1	112030325	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	7.280000	0.78610	2.323000	0.78572	0.555000	0.69702	CGG	RASAL1-008	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405528.1		-	ENST00000546530.1	Missense_Mutation	SNP	12 : 113545942 - 113545942 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	223	51
CPAMD8	27151	broad.mit.edu	37	19	17013581	17013581	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17013581C>T	ENST00000443236.1	-	35	4735	c.4704G>A	c.(4702-4704)ccG>ccA	p.P1568P		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1521						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCATGGGGGGCGGGCGTCCCT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		2,3928		0,2,1963	44	52	49		4704	-4.5	0	19		49	9,8273		0,9,4132	no	coding-synonymous	CPAMD8	NM_015692.2		0,11,6095	TT,TC,CC	NA	0.1087,0.0509,0.0901		1568/1933	17013581	11,12201	1965	4141	6106	SO:0001819	synonymous_variant			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111	27151	27151			23228	protein-coding gene	gene with protein product		608841			NA	10574462	Standard	NM_015692	NM_015692	NA	Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.4704G>A	19.37:g.17013581C>T		NA	Q8NC09|Q9ULD7	37	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	C	2.048	-0.418387	0.04766	5.09E-4	0.001087	ENSG00000160111	ENST00000443236	.	.	.	2.24	-4.49	0.03504	.	.	.	.	.	T	0.17066	0.0410	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23726	-1.0180	4	.	.	.	.	0.9537	0.01381	0.1533:0.3568:0.1509:0.339	.	.	.	.	H	1579	.	.	R	-	2	0	CPAMD8	16874581	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.634000	0.00869	-1.209000	0.02631	-2.791000	0.00116	CGC	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257531.2		-	ENST00000443236.1	Silent	SNP	19 : 17013581 - 17013581 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	643	126
DEPDC5	9681	broad.mit.edu	37	22	32217617	32217617	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32217617C>A	ENST00000382112.3	+	22	2070	c.2000C>A	c.(1999-2001)gCt>gAt	p.A667D	DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000382111.2_Missense_Mutation_p.A667D|DEPDC5_ENST00000400249.2_Missense_Mutation_p.A667D|DEPDC5_ENST00000266091.3_Missense_Mutation_p.A667D|DEPDC5_ENST00000400248.2_Missense_Mutation_p.A667D|DEPDC5_ENST00000400246.1_Missense_Mutation_p.A667D|DEPDC5_ENST00000536766.1_Intron	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	667					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CATGAAGCTGCTGGAAGGTGA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	126	124			NA	NA	22		NA											NA				32217617		2119	4242	6361	SO:0001583	missense			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150	9681	9681			18423	protein-coding gene	gene with protein product		614191			NA	23542697, 23542701	Standard	NM_014662	NM_001242896	NA	Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.2000C>A	22.37:g.32217617C>A	ENSP00000371546:p.Ala667Asp	NA	A6H8V6|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	37	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.184099|4.184099	0.78677|0.78677	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000266091;ENST00000400249;ENST00000400246;ENST00000382112;ENST00000382111;ENST00000400248|ENST00000433147	T;T;T;T;T;T|.	0.24908|.	1.85;1.9;1.83;1.9;1.83;1.9|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.058834|.	0.64402|.	D|.	0.000001|.	T|.	0.53481|.	0.1799|.	N|N	0.17474|0.17474	0.49|0.49	0.80722|0.80722	D|D	1|1	B;P;B;B|.	0.35272|.	0.418;0.493;0.039;0.181|.	B;B;B;B|.	0.26864|.	0.046;0.074;0.034;0.034|.	T|.	0.46020|.	-0.9221|.	10|.	0.16896|.	T|.	0.51|.	.|.	19.2671|19.2671	0.93993|0.93993	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	667;667;667;667|.	B9EGN9;O75140-4;A8MPX9;O75140|.	.;.;.;DEPD5_HUMAN|.	D|X	667|64	ENSP00000266091:A667D;ENSP00000383108:A667D;ENSP00000383105:A667D;ENSP00000371546:A667D;ENSP00000371545:A667D;ENSP00000383107:A667D|.	ENSP00000266091:A667D|.	A|C	+|+	2|3	0|2	DEPDC5|DEPDC5	30547617|30547617	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.999000|0.999000	0.98932|0.98932	5.624000|5.624000	0.67764|0.67764	2.801000|2.801000	0.96364|0.96364	0.655000|0.655000	0.94253|0.94253	GCT|TGC	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000129087.1		+	ENST00000382112.3	Missense_Mutation	SNP	22 : 32217617 - 32217617 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	790	163
NFIC	4782	broad.mit.edu	37	19	3381920	3381920	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3381920C>T	ENST00000589123.1	+	2	334	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	NFIC_ENST00000443272.2_Missense_Mutation_p.R81C|NFIC_ENST00000346156.5_Missense_Mutation_p.R72C|NFIC_ENST00000395111.3_Missense_Mutation_p.R72C|NFIC_ENST00000590282.1_Missense_Mutation_p.R81C|NFIC_ENST00000341919.3_Missense_Mutation_p.R81C|NFIC_ENST00000586919.1_Missense_Mutation_p.R72C	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	81					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		GGCCAAGCTGCGCAAGGACAT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	87	85			NA	NA	19		NA											NA				3381920		2203	4300	6503	SO:0001583	missense			X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905	4782	4782			7786	protein-coding gene	gene with protein product		600729		NFI	NA	3398920, 7590749	Standard	NM_005597	NM_205843	NA	Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000589123.1:c.214C>T	19.37:g.3381920C>T	ENSP00000465655:p.Arg72Cys	NA	A8K1H0|B7Z9C3|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	37	CCDS45914.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.363580	0.61513	.	.	ENSG00000141905	ENST00000443272;ENST00000395111;ENST00000346156;ENST00000341919;ENST00000343825;ENST00000269778	T;T;T	0.78246	-1.16;-1.16;-1.16	3.88	1.71	0.24356	MAD homology 1, Dwarfin-type (2);CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.84460	0.5477	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.998;0.997;0.997;0.997	T	0.82851	-0.0253	10	0.87932	D	0	.	8.8194	0.35016	0.0:0.8083:0.0:0.1917	.	81;81;72;81;72	B7Z4U5;P08651;P08651-3;P08651-5;P08651-2	.;NFIC_HUMAN;.;.;.	C	72;72;72;81;81;81	ENSP00000378543:R72C;ENSP00000301935:R72C;ENSP00000342194:R81C	ENSP00000269778:R81C	R	+	1	0	NFIC	3332920	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.438000	0.44837	0.251000	0.21505	-0.373000	0.07131	CGC	NFIC-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452784.3		+	ENST00000589123.1	Missense_Mutation	SNP	19 : 3381920 - 3381920 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	902	184
HERC3	8916	broad.mit.edu	37	4	89571092	89571092	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89571092G>A	ENST00000402738.1	+	4	567	c.328G>A	c.(328-330)Gca>Aca	p.A110T	HERC3_ENST00000407637.1_Missense_Mutation_p.A110T|HERC3_ENST00000264345.3_Missense_Mutation_p.A110T	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	110					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TTCTTGGGGTGCAGGGAGTGA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	145	147			NA	NA	4		NA											NA				89571092		2203	4300	6503	SO:0001583	missense			D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641	8916	8916			4876	protein-coding gene	gene with protein product		605200	hect domain and RLD 3		NA	10702688	Standard	NM_014606	NM_014606	NA	Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.328G>A	4.37:g.89571092G>A	ENSP00000385684:p.Ala110Thr	NA	A8K1S5	37	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.770586	0.49680	.	.	ENSG00000138641	ENST00000402738;ENST00000431413;ENST00000407637;ENST00000426683;ENST00000452979;ENST00000264345	D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.32	5.32	0.75619	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.054047	0.64402	D	0.000001	D	0.86952	0.6057	L	0.41492	1.28	0.80722	D	1	B;D	0.67145	0.372;0.996	B;P	0.61070	0.216;0.883	D	0.85247	0.1042	9	.	.	.	.	14.0809	0.64922	0.0:0.0:0.8496:0.1504	.	110;110	Q15034;Q8IXX3	HERC3_HUMAN;.	T	110	ENSP00000385684:A110T;ENSP00000405863:A110T;ENSP00000384005:A110T;ENSP00000389991:A110T;ENSP00000406210:A110T;ENSP00000264345:A110T	.	A	+	1	0	HERC3	89790115	0.937000	0.31787	1.000000	0.80357	0.997000	0.91878	2.734000	0.47368	2.772000	0.95346	0.650000	0.86243	GCA	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318081.2		+	ENST00000402738.1	Missense_Mutation	SNP	4 : 89571092 - 89571092 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	607	115
TCERG1	10915	broad.mit.edu	37	5	145849232	145849232	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145849232G>A	ENST00000296702.5	+	7	1362	c.1324G>A	c.(1324-1326)Gat>Aat	p.D442N	TCERG1_ENST00000394421.2_Missense_Mutation_p.D421N	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	442	WW 2.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAAAACAGCAGATGGGAAGAC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	125	120			NA	NA	5		NA											NA				145849232		2203	4300	6503	SO:0001583	missense			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649	10915	10915			15630	protein-coding gene	gene with protein product	transcription factor CA150, co-activator of 150 kDa, TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD, TATA box-binding protein-associated factor 2S	605409	TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD	TAF2S	NA	9315662, 11003711	Standard	NM_001040006	XM_005268365	NA	Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1324G>A	5.37:g.145849232G>A	ENSP00000296702:p.Asp442Asn	NA	Q2NKN2|Q59EA1	37	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795679	0.90453	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	D;D	0.83506	-1.73;-1.73	5.71	5.71	0.89125	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	D	0.88005	0.6321	L	0.48877	1.53	0.80722	D	1	D;D;D	0.59767	0.986;0.965;0.972	P;P;P	0.61800	0.894;0.558;0.685	D	0.87553	0.2466	10	0.52906	T	0.07	-21.2535	19.8493	0.96733	0.0:0.0:1.0:0.0	.	421;421;442	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	N	442;421	ENSP00000296702:D442N;ENSP00000377943:D421N	ENSP00000296702:D442N	D	+	1	0	TCERG1	145829425	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.701000	0.92244	0.563000	0.77884	GAT	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251886.1		+	ENST00000296702.5	Missense_Mutation	SNP	5 : 145849232 - 145849232 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1075	224
PDZRN3	23024	broad.mit.edu	37	3	73432936	73432936	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:73432936G>A	ENST00000479530.1	-	8	2128	c.1932C>T	c.(1930-1932)agC>agT	p.S644S	PDZRN3_ENST00000535920.1_Silent_p.S649S|PDZRN3_ENST00000462146.2_Silent_p.S584S|PDZRN3_ENST00000263666.4_Silent_p.S927S|PDZRN3_ENST00000466780.1_Silent_p.S584S			Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	927							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GCGTCCCGTCGCTGCGGATCT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	36	36			NA	NA	3		NA											NA				73432936		2203	4300	6503	SO:0001819	synonymous_variant			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440	23024	23024		RING-type (C3HC4) zinc fingers	17704	protein-coding gene	gene with protein product	likely ortholog of mouse semaF cytoplasmic domain associated protein 3	609729			NA	10470851	Standard	XM_041363	XM_005264718	NA	Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000479530.1:c.1932C>T	3.37:g.73432936G>A		NA	A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.606|5.606	0.296515|0.296515	0.10622|0.10622	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000494559|ENST00000416926	.|.	.|.	.|.	5.4|5.4	2.58|2.58	0.30949|0.30949	.|.	.|.	.|.	.|.	.|.	T|.	0.58850|.	0.2151|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.53809|.	-0.8386|.	4|.	.|0.36615	.|T	.|0.2	.|.	9.4405|9.4405	0.38666|0.38666	0.3016:0.0:0.6984:0.0|0.3016:0.0:0.6984:0.0	.|.	.|.	.|.	.|.	V|X	243|647	.|.	.|ENSP00000392657:R647X	A|R	-|-	2|1	0|2	PDZRN3|PDZRN3	73515626|73515626	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.813000|0.813000	0.45954|0.45954	0.602000|0.602000	0.24134|0.24134	0.633000|0.633000	0.30452|0.30452	0.655000|0.655000	0.94253|0.94253	GCG|CGA	PDZRN3-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000352465.1		-	ENST00000479530.1	Silent	SNP	3 : 73432936 - 73432936 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	409	76
LCMT2	9836	broad.mit.edu	37	15	43621480	43621480	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43621480C>A	ENST00000305641.5	-	1	1323	c.1208G>T	c.(1207-1209)aGc>aTc	p.S403I	LCMT2_ENST00000567039.1_3'UTR|LCMT2_ENST00000544735.1_5'UTR	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	403					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GCCTATTTGGCTGCCTTTCCA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	111	109			NA	NA	15		NA											NA				43621480		2201	4299	6500	SO:0001583	missense			AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806	9836	9836			17558	protein-coding gene	gene with protein product	tRNA-yW synthesizing protein 4	611246			NA	9628581, 17150819	Standard	NM_014793	NM_014793	NA	Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.1208G>T	15.37:g.43621480C>A	ENSP00000307214:p.Ser403Ile	NA	Q4JFT6|Q96B55|Q9NR10	37	CCDS10094.1	.	.	.	.	.	.	.	.	.	.	C	8.388	0.838980	0.16891	.	.	ENSG00000168806	ENST00000305641	T	0.74315	-0.83	4.99	1.83	0.25207	.	0.643115	0.16492	N	0.212070	T	0.52306	0.1726	N	0.14661	0.345	0.58432	D	0.999998	B	0.18610	0.029	B	0.16722	0.016	T	0.31364	-0.9946	10	0.33940	T	0.23	-10.8025	5.1773	0.15141	0.2037:0.6553:0.0:0.1411	.	403	O60294	LCMT2_HUMAN	I	403	ENSP00000307214:S403I	ENSP00000307214:S403I	S	-	2	0	LCMT2	41408772	0.188000	0.23250	0.942000	0.38095	0.706000	0.40770	0.084000	0.14891	0.274000	0.22072	0.655000	0.94253	AGC	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253205.1		-	ENST00000305641.5	Missense_Mutation	SNP	15 : 43621480 - 43621480 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	658	125
COBL	23242	broad.mit.edu	37	7	51095503	51095503	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:51095503G>A	ENST00000265136.7	-	10	3455	c.3290C>T	c.(3289-3291)cCt>cTt	p.P1097L	COBL_ENST00000395542.2_Missense_Mutation_p.P1179L	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1097										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTGGACAACAGGTTTGAATTT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(189;2119 2138 12223 30818 34679)							NA				0													179	160	167			NA	NA	7		NA											NA				51095503		2203	4300	6503	SO:0001583	missense			AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078	23242	23242			22199	protein-coding gene	gene with protein product		610317	cordon-bleu homolog (mouse)		NA		Standard	NM_015198	NM_015198	NA	Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.3290C>T	7.37:g.51095503G>A	ENSP00000265136:p.Pro1097Leu	NA	A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	37	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808808	0.70797	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	T;T;T;T	0.62105	0.08;0.26;0.15;0.05	5.27	5.27	0.74061	.	0.000000	0.41823	D	0.000809	T	0.70237	0.3201	L	0.36672	1.1	0.49051	D	0.999742	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.995;0.995;0.999;0.999;1.0	T	0.72903	-0.4151	10	0.87932	D	0	.	12.9135	0.58192	0.0:0.0:0.8378:0.1622	.	1097;1154;1097;1179;639	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	L	1097;989;982;1179	ENSP00000265136:P1097L;ENSP00000401204:P989L;ENSP00000413498:P982L;ENSP00000378912:P1179L	ENSP00000265136:P1097L	P	-	2	0	COBL	51062997	1.000000	0.71417	0.088000	0.20740	0.969000	0.65631	5.495000	0.66912	2.440000	0.82611	0.563000	0.77884	CCT	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342682.1		-	ENST00000265136.7	Missense_Mutation	SNP	7 : 51095503 - 51095503 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	727	128
SLC17A8	246213	broad.mit.edu	37	12	100806634	100806634	+	Nonsense_Mutation	SNP	G	G	T	rs144447013		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100806634G>T	ENST00000323346.5	+	10	1586	c.1273G>T	c.(1273-1275)Gga>Tga	p.G425*	SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Nonsense_Mutation_p.G375*	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	425					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						ACTTGCTGTAGGATTTAGTGG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													298	266	277			NA	NA	12		NA											NA				100806634		2203	4300	6503	SO:0001587	stop_gained			AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520	246213	246213		Solute carriers	20151	protein-coding gene	gene with protein product	vesicular glutamate transporter 3	607557	deafness, autosomal dominant 25, solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8	DFNA25	NA	12151341	Standard	NM_139319	NM_139319	NA	Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1273G>T	12.37:g.100806634G>T	ENSP00000316909:p.Gly425*	NA	B3KXZ6|B7ZKV4|Q17RQ8	37	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	G	38	7.280373	0.98182	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.099	0.97865	0.0:0.0:1.0:0.0	.	.	.	.	X	425;375	.	ENSP00000316909:G425X	G	+	1	0	SLC17A8	99330765	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.835000	0.99442	2.752000	0.94435	0.655000	0.94253	GGA	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408673.2		+	ENST00000323346.5	Nonsense_Mutation	SNP	12 : 100806634 - 100806634 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	699	106
CPA5	93979	broad.mit.edu	37	7	130001054	130001054	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130001054G>A	ENST00000485477.1	+	6	1632	c.503G>A	c.(502-504)aGc>aAc	p.S168N	CPA5_ENST00000431780.2_Missense_Mutation_p.S168N|CPA5_ENST00000461828.1_Missense_Mutation_p.S168N|CPA5_ENST00000355388.3_Missense_Mutation_p.S168N|CPA5_ENST00000474905.1_Missense_Mutation_p.S168N|CPA5_ENST00000393213.3_Missense_Mutation_p.S168N|CPA5_ENST00000466363.2_Missense_Mutation_p.S168N			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	168					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					ATTGGCAACAGCTTTGAAAAC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	86	89			NA	NA	7		NA											NA				130001054		2203	4300	6503	SO:0001583	missense			AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525	93979	93979			15722	protein-coding gene	gene with protein product		609561			NA	11836249	Standard	NM_001127441	NM_080385	NA	Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.503G>A	7.37:g.130001054G>A	ENSP00000420237:p.Ser168Asn	NA	Q86SE2|Q86XM3|Q8NA08	37	CCDS5819.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010102	0.75046	.	.	ENSG00000158525	ENST00000355388;ENST00000461828;ENST00000466363;ENST00000485477;ENST00000431780;ENST00000474905;ENST00000393213	T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49	6.17	5.25	0.73442	Peptidase M14, carboxypeptidase A (3);	0.074008	0.56097	D	0.000021	T	0.70334	0.3212	H	0.98048	4.135	0.32261	N	0.570195	D;D	0.67145	0.996;0.993	D;D	0.68621	0.909;0.959	T	0.83180	-0.0089	9	.	.	.	.	16.7161	0.85397	0.0:0.1395:0.8605:0.0	.	168;168	G3V0G8;Q8WXQ8	.;CBPA5_HUMAN	N	168	ENSP00000347549:S168N;ENSP00000418183:S168N;ENSP00000419025:S168N;ENSP00000420237:S168N;ENSP00000393045:S168N;ENSP00000417314:S168N;ENSP00000376907:S168N	.	S	+	2	0	CPA5	129788290	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	4.210000	0.58500	2.941000	0.99782	0.655000	0.94253	AGC	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349712.1		+	ENST00000485477.1	Missense_Mutation	SNP	7 : 130001054 - 130001054 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	304	47
LPA	4018	broad.mit.edu	37	6	161015074	161015074	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161015074G>A	ENST00000316300.5	-	22	3589	c.3545C>T	c.(3544-3546)aCc>aTc	p.T1182I	LPA_ENST00000447678.1_Missense_Mutation_p.T1182I			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3690	Kringle 11.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGTGACAGTGGTAGAGAATGA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	159	159			NA	NA	6		NA											NA				161015074		2077	4253	6330	SO:0001583	missense			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670	4018	4018			6667	protein-coding gene	gene with protein product		152200		LP	NA	3670400	Standard	NM_005577	NM_005577	NA	Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3545C>T	6.37:g.161015074G>A	ENSP00000321334:p.Thr1182Ile	NA	Q5VTD7|Q9UD88	37	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	6.106	0.387885	0.11581	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.63096	-0.02;-0.02	2.56	0.653	0.17828	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.57110	0.2031	M	0.62209	1.925	0.09310	N	1	D	0.65815	0.995	D	0.83275	0.996	T	0.42982	-0.9419	9	0.40728	T	0.16	.	4.8007	0.13296	0.3309:0.0:0.6691:0.0	.	3690	P08519	APOA_HUMAN	I	1182	ENSP00000321334:T1182I;ENSP00000395608:T1182I	ENSP00000321334:T1182I	T	-	2	0	LPA	160935064	0.657000	0.27393	0.009000	0.14445	0.060000	0.15804	0.101000	0.15251	-0.002000	0.14469	0.436000	0.28706	ACC	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042957.1		-	ENST00000316300.5	Missense_Mutation	SNP	6 : 161015074 - 161015074 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	619	110
CNTN4	152330	broad.mit.edu	37	3	2908487	2908487	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:2908487G>A	ENST00000397461.1	+	7	890	c.506G>A	c.(505-507)cGc>cAc	p.R169H	CNTN4_ENST00000427331.1_Missense_Mutation_p.R169H|CNTN4_ENST00000418658.1_Missense_Mutation_p.R169H|CNTN4_ENST00000358480.3_5'UTR	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	169	Ig-like C2-type 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CAGGATAATCGCCGCTTTGTT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	128	131			NA	NA	3		NA											NA				2908487		1830	4084	5914	SO:0001583	missense			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619	152330	152330		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	2174	protein-coding gene	gene with protein product		607280			NA	8586965, 12202991	Standard		NM_175607	NA	Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.506G>A	3.37:g.2908487G>A	ENSP00000380602:p.Arg169His	NA	Q8IX14|Q8TC35	37	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	G	34	5.305748	0.95601	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331	D;D;D	0.81659	-1.52;-1.52;-1.52	5.33	5.33	0.75918	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.91365	0.7276	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92645	0.6128	10	0.87932	D	0	.	19.0488	0.93034	0.0:0.0:1.0:0.0	.	169;169	B3KTK4;Q8IWV2	.;CNTN4_HUMAN	H	169	ENSP00000396010:R169H;ENSP00000380602:R169H;ENSP00000413642:R169H	ENSP00000380602:R169H	R	+	2	0	CNTN4	2883487	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.640000	0.98453	2.489000	0.83994	0.655000	0.94253	CGC	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239236.2		+	ENST00000397461.1	Missense_Mutation	SNP	3 : 2908487 - 2908487 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	790	113
ZNF512B	57473	broad.mit.edu	37	20	62595140	62595140	+	Splice_Site	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62595140A>T	ENST00000450537.1	-	9	1666		c.e9+1		ZNF512B_ENST00000217130.3_Splice_Site|ZNF512B_ENST00000369888.1_Splice_Site			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GAGCTGCCTTACCTTCTGACA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	84	84			NA	NA	20		NA											NA				62595140		2203	4300	6503	SO:0001630	splice_region_variant			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700	57473	57473			29212	protein-coding gene	gene with protein product					NA	10574462	Standard	NM_020713	NM_020713	NA	Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.1605+1T>A	20.37:g.62595140A>T		NA	Q08AK9|Q9ULM4	37	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	A	19.35	3.811542	0.70797	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	.	.	.	4.38	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8107	0.52181	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF512B	62065584	1.000000	0.71417	0.982000	0.44146	0.877000	0.50540	6.611000	0.74183	1.611000	0.50210	0.383000	0.25322	.	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080246.1	Intron	-	ENST00000450537.1	Splice_Site	SNP	20 : 62595140 - 62595140 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	719	166
HIST1H1D	3007	broad.mit.edu	37	6	26234584	26234584	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26234584G>A	ENST00000244534.5	-	1	632	c.578C>T	c.(577-579)gCc>gTc	p.A193V		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	193					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				AGGGGCTTTGGCCTTAGCTGG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	96	94			NA	NA	6		NA											NA				26234584		2203	4300	6503	SO:0001583	missense			M60747	CCDS4597.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000124575	ENSG00000124575	3007	3007		Histones / Replication-dependent	4717	protein-coding gene	gene with protein product		142210	H1 histone family, member 3, histone 1, H1d	H1F3	NA	1916825, 12408966	Standard	NM_005320	NM_005320	NA	Approved	H1.3, H1d, H1s-2	uc003nhd.3	P16402	OTTHUMG00000014432	ENST00000244534.5:c.578C>T	6.37:g.26234584G>A	ENSP00000244534:p.Ala193Val	NA	B2R751|Q2M2I2	37	CCDS4597.1	.	.	.	.	.	.	.	.	.	.	.	13.02	2.110943	0.37242	.	.	ENSG00000124575	ENST00000244534	T	0.14144	2.53	5.12	4.25	0.50352	.	0.281601	0.28241	N	0.016063	T	0.02649	0.0080	N	0.08118	0	0.42787	D	0.993885	B	0.06786	0.001	B	0.09377	0.004	T	0.21042	-1.0257	10	0.72032	D	0.01	-16.8507	8.2884	0.31943	0.0797:0.0:0.7667:0.1536	.	193	P16402	H13_HUMAN	V	193	ENSP00000244534:A193V	ENSP00000244534:A193V	A	-	2	0	HIST1H1D	26342563	1.000000	0.71417	0.877000	0.34402	0.267000	0.26476	3.916000	0.56416	1.300000	0.44818	0.650000	0.86243	GCC	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040095.1		-	ENST00000244534.5	Missense_Mutation	SNP	6 : 26234584 - 26234584 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	697	143
ZNF16	7564	broad.mit.edu	37	8	146156950	146156950	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:146156950T>G	ENST00000276816.4	-	4	1409	c.1223A>C	c.(1222-1224)aAt>aCt	p.N408T	ZNF16_ENST00000394909.2_Missense_Mutation_p.N408T	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		GCCACAATCATTACACTCATA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	92	94			NA	NA	8		NA											NA				146156950		2203	4300	6503	SO:0001583	missense			X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631	7564	7564		Zinc fingers, C2H2-type	12947	protein-coding gene	gene with protein product		601262	zinc finger protein 16 (KOX 9)		NA		Standard	NM_006958	NM_006958	NA	Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.1223A>C	8.37:g.146156950T>G	ENSP00000276816:p.Asn408Thr	NA	B3KXM4|D3DWP2|Q96FG0	37	CCDS6437.1	.	.	.	.	.	.	.	.	.	.	T	6.663	0.490788	0.12702	.	.	ENSG00000170631	ENST00000276816;ENST00000394909	T;T	0.17054	2.3;2.3	3.88	0.141	0.14811	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08582	0.0213	N	0.05467	-0.045	0.09310	N	1	P	0.39352	0.669	B	0.41374	0.355	T	0.23904	-1.0175	9	0.48119	T	0.1	.	4.232	0.10608	0.0:0.3157:0.1749:0.5093	.	408	P17020	ZNF16_HUMAN	T	408	ENSP00000276816:N408T;ENSP00000378369:N408T	ENSP00000276816:N408T	N	-	2	0	ZNF16	146127754	0.000000	0.05858	0.084000	0.20598	0.929000	0.56500	-1.587000	0.02108	-0.142000	0.11354	-0.464000	0.05259	AAT	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382978.1		-	ENST00000276816.4	Missense_Mutation	SNP	8 : 146156950 - 146156950 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	426	79
B3GNT6	192134	broad.mit.edu	37	11	76751323	76751323	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76751323G>A	ENST00000533140.1	+	2	866	c.728G>A	c.(727-729)cGc>cAc	p.R243H	B3GNT6_ENST00000421061.1_Missense_Mutation_p.R154H|B3GNT6_ENST00000354301.5_Missense_Mutation_p.R243H			Q6ZMB0	B3GN6_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	243					O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						CCACCCGGCCGCCACCTGTTC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	15	14			NA	NA	11		NA											NA				76751323		2165	4252	6417	SO:0001583	missense			AB073740	CCDS53681.1	11q13.4	2013-02-19			ENSG00000198488	ENSG00000198488	192134	192134		Beta 3-glycosyltransferases	24141	protein-coding gene	gene with protein product		615315			NA	11821425	Standard	NM_138706	NM_138706	NA	Approved	B3Gn-T6	uc021qnp.1	Q6ZMB0		ENST00000533140.1:c.728G>A	11.37:g.76751323G>A	ENSP00000435352:p.Arg243His	NA	Q6ZSC5|Q8TAZ4|Q8TDX1	37	CCDS53681.1	.	.	.	.	.	.	.	.	.	.	g	2.734	-0.263716	0.05754	.	.	ENSG00000198488	ENST00000533140;ENST00000354301;ENST00000421061	T;T;T	0.40756	1.02;1.02;1.02	2.71	0.741	0.18336	.	1.469590	0.04406	N	0.365184	T	0.30665	0.0772	L	0.31120	0.905	0.09310	N	1	B	0.14805	0.011	B	0.16722	0.016	T	0.18493	-1.0335	10	0.28530	T	0.3	.	5.4637	0.16632	0.3984:0.0:0.6016:0.0	.	243	Q6ZMB0	B3GN6_HUMAN	H	243;243;154	ENSP00000435352:R243H;ENSP00000346256:R243H;ENSP00000403463:R154H	ENSP00000346256:R243H	R	+	2	0	B3GNT6	76428971	0.000000	0.05858	0.203000	0.23512	0.015000	0.08874	0.311000	0.19380	0.190000	0.20209	-0.355000	0.07637	CGC	B3GNT6-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382740.2		+	ENST00000533140.1	Missense_Mutation	SNP	11 : 76751323 - 76751323 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	97	24
RP11-697E2.6	0	broad.mit.edu	37	15	90796595	90796595	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90796595T>G	ENST00000561573.1	+	4	677	c.413T>G	c.(412-414)tTt>tGt	p.F138C	TTLL13_ENST00000339615.5_Missense_Mutation_p.F138C|TTLL13_ENST00000438251.1_Missense_Mutation_p.F138C						NA											NA						ATGAAGAGGTTTCAGGTACCC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	77	89			NA	NA	15		NA											NA				90796595		2199	4298	6497	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000561573.1:c.413T>G	15.37:g.90796595T>G	ENSP00000456615:p.Phe138Cys	NA		37		.	.	.	.	.	.	.	.	.	.	T	19.11	3.763149	0.69763	.	.	ENSG00000213471	ENST00000438251;ENST00000339615	T;T	0.05447	3.44;3.44	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000001	T	0.31009	0.0783	M	0.90542	3.125	0.51233	D	0.999918	D	0.71674	0.998	D	0.71414	0.973	T	0.24870	-1.0148	10	0.87932	D	0	.	14.6133	0.68531	0.0:0.0:0.0:1.0	.	138	A6NNM8-2	.	C	138	ENSP00000413362:F138C;ENSP00000345294:F138C	ENSP00000345294:F138C	F	+	2	0	TTLL13	88597599	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	4.644000	0.61397	2.050000	0.60909	0.459000	0.35465	TTT	RP11-697E2.6-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000435855.1		+	ENST00000561573.1	Missense_Mutation	SNP	15 : 90796595 - 90796595 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	96	20
ZNF679	168417	broad.mit.edu	37	7	63720670	63720670	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:63720670G>T	ENST00000421025.1	+	3	380	c.111G>T	c.(109-111)caG>caT	p.Q37H	ZNF679_ENST00000255746.4_Missense_Mutation_p.Q37H	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	37	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ATCACGCTCAGCAGAATTTAT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	45	47			NA	NA	7		NA											NA				63720670		692	1591	2283	SO:0001583	missense			BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123	168417	168417		Zinc fingers, C2H2-type, -	28650	protein-coding gene	gene with protein product	hypothetical protein MGC42415				NA	12477932	Standard	NM_153363	NM_153363	NA	Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.111G>T	7.37:g.63720670G>T	ENSP00000416809:p.Gln37His	NA		37	CCDS47592.1	.	.	.	.	.	.	.	.	.	.	g	11.75	1.731293	0.30684	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.09445	2.98;2.98	0.195	0.195	0.15151	Krueppel-associated box (4);	.	.	.	.	T	0.39937	0.1097	H	0.97611	4.04	0.22317	N	0.999208	D	0.71674	0.998	D	0.83275	0.996	T	0.19257	-1.0311	9	0.87932	D	0	.	2.6947	0.05130	0.4409:0.0:0.5591:0.0	.	37	Q8IYX0	ZN679_HUMAN	H	37	ENSP00000416809:Q37H;ENSP00000255746:Q37H	ENSP00000255746:Q37H	Q	+	3	2	ZNF679	63358105	0.010000	0.17322	0.179000	0.23059	0.176000	0.22953	1.597000	0.36729	0.300000	0.22699	0.306000	0.20318	CAG	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344317.2		+	ENST00000421025.1	Missense_Mutation	SNP	7 : 63720670 - 63720670 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	613	97
SIK1	150094	broad.mit.edu	37	21	44839359	44839359	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44839359C>A	ENST00000270162.6	-	10	1252		c.e10-1			NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	NA					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						CCTGAGGCACCTGGGGCCGGC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	45	44			NA	NA	21		NA											NA				44839359		2202	4300	6502	SO:0001630	splice_region_variant			BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178	150094	150094			11142	protein-coding gene	gene with protein product	myocardial SNF1-like kinase	605705	SNF1-like kinase	SNF1LK	NA	7893599	Standard	NM_173354	NM_173354	NA	Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.1120-1G>T	21.37:g.44839359C>A		NA	A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	37	CCDS33575.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.236820	0.39498	.	.	ENSG00000142178	ENST00000270162	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.805	0.78491	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SIK1	43663787	1.000000	0.71417	0.738000	0.30950	0.167000	0.22549	4.725000	0.61979	2.400000	0.81607	0.561000	0.74099	.	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195654.1	Intron	-	ENST00000270162.6	Splice_Site	SNP	21 : 44839359 - 44839359 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	56
GPR87	53836	broad.mit.edu	37	3	151012762	151012762	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151012762G>A	ENST00000260843.4	-	3	736	c.272C>T	c.(271-273)aCg>aTg	p.T91M	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	91						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAATGTCAGCGTCATTATGAG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	138	138			NA	NA	3		NA											NA				151012762		2203	4300	6503	SO:0001583	missense			AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271	NA	53836		GPCR / Class A : Orphans	4538	protein-coding gene	gene with protein product		606379		GPR95	NA	11273702	Standard		NM_023915	NA	Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.272C>T	3.37:g.151012762G>A	ENSP00000260843:p.Thr91Met	NA	Q5KU35|Q96JZ8|Q9BXC2	37	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.257065	0.39896	.	.	ENSG00000138271	ENST00000260843	T	0.34072	1.38	5.31	5.31	0.75309	GPCR, rhodopsin-like superfamily (1);	0.138939	0.49916	D	0.000124	T	0.49150	0.1540	L	0.39020	1.185	0.44373	D	0.997276	D	0.76494	0.999	D	0.68943	0.961	T	0.48768	-0.9006	10	0.87932	D	0	-9.5583	14.5601	0.68130	0.0726:0.0:0.9274:0.0	.	91	Q9BY21	GPR87_HUMAN	M	91	ENSP00000260843:T91M	ENSP00000260843:T91M	T	-	2	0	GPR87	152495452	1.000000	0.71417	0.952000	0.39060	0.331000	0.28603	6.273000	0.72581	2.632000	0.89209	0.655000	0.94253	ACG	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357788.1		-	ENST00000260843.4	Missense_Mutation	SNP	3 : 151012762 - 151012762 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	380	71
MST1R	4486	broad.mit.edu	37	3	49940299	49940299	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49940299T>C	ENST00000296474.3	-	1	771	c.744A>G	c.(742-744)gaA>gaG	p.E248E	MST1R_ENST00000344206.4_Silent_p.E248E|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	248	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGTGCACGTATTCAATACTGT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	58	60			NA	NA	3		NA											NA				49940299		2203	4300	6503	SO:0001819	synonymous_variant			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078	4486	4486		CD molecules	7381	protein-coding gene	gene with protein product		600168	PTK8 protein tyrosine kinase 8	RON, PTK8	NA	8386824	Standard		NM_002447	NA	Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.744A>G	3.37:g.49940299T>C		NA	B5A944|B5A945|B5A946|B5A947	37	CCDS2807.1																																																																																			MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345403.1		-	ENST00000296474.3	Silent	SNP	3 : 49940299 - 49940299 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	61
SLC22A15	55356	broad.mit.edu	37	1	116577810	116577810	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:116577810T>G	ENST00000369503.4	+	7	1077	c.947T>G	c.(946-948)tTt>tGt	p.F316C	SLC22A15_ENST00000481127.1_3'UTR	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	316					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		AATTGCAGGTTTGTGTGCAGC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													183	172	175			NA	NA	1		NA											NA				116577810		1936	4154	6090	SO:0001583	missense			AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393	55356	55356		Solute carriers	20301	protein-coding gene	gene with protein product		608275	solute carrier family 22 (organic cation transporter), member 15		NA	12372408	Standard	NM_018420	NM_018420	NA	Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.947T>G	1.37:g.116577810T>G	ENSP00000358515:p.Phe316Cys	NA	A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	37	CCDS44198.1	.	.	.	.	.	.	.	.	.	.	T	18.94	3.729028	0.69074	.	.	ENSG00000163393	ENST00000369503	T	0.63580	-0.05	5.76	4.56	0.56223	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.054834	0.85682	D	0.000000	T	0.57577	0.2063	M	0.81179	2.53	0.80722	D	1	P	0.35894	0.526	B	0.40982	0.345	T	0.67722	-0.5597	10	0.72032	D	0.01	.	11.8102	0.52179	0.1313:0.0:0.0:0.8687	.	316	Q8IZD6	S22AF_HUMAN	C	316	ENSP00000358515:F316C	ENSP00000358515:F316C	F	+	2	0	SLC22A15	116379333	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.529000	0.60588	2.198000	0.70561	0.528000	0.53228	TTT	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033220.2		+	ENST00000369503.4	Missense_Mutation	SNP	1 : 116577810 - 116577810 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	464	92
NTM	50863	broad.mit.edu	37	11	132082001	132082001	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:132082001A>G	ENST00000374786.1	+	3	965	c.486A>G	c.(484-486)agA>agG	p.R162R	NTM_ENST00000427481.2_Silent_p.R153R|NTM_ENST00000374791.3_Silent_p.R162R|NTM_ENST00000425719.2_Silent_p.R162R|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000539799.1_Silent_p.R162R|NTM_ENST00000374784.1_Silent_p.R162R	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	162	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						CAACTGGTAGACCAGAGCCTA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	139	140			NA	NA	11		NA											NA				132082001		2201	4297	6498	SO:0001819	synonymous_variant			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667	50863	50863		Immunoglobulin superfamily / I-set domain containing	17941	protein-coding gene	gene with protein product	neurotrimin, IgLON family member 2	607938			NA	7891157	Standard	NM_016522	NM_001048209	NA	Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.486A>G	11.37:g.132082001A>G		NA	A0MTT2|Q6UXJ3|Q86VJ9	37	CCDS8491.1																																																																																			NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000141937.1		+	ENST00000374786.1	Silent	SNP	11 : 132082001 - 132082001 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	337	8
TEP1	7011	broad.mit.edu	37	14	20850180	20850180	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20850180C>T	ENST00000556935.1	-	28	4031	c.3992G>A	c.(3991-3993)cGg>cAg	p.R1331Q	TEP1_ENST00000545983.1_5'UTR|TEP1_ENST00000262715.5_Missense_Mutation_p.R1439Q			Q99973	TEP1_HUMAN	telomerase-associated protein 1	1439	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CGGTAGTGTCCGCCACACACT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	112	121			NA	NA	14		NA											NA				20850180		2203	4300	6503	SO:0001583	missense				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566	7011	7011		WD repeat domain containing	11726	protein-coding gene	gene with protein product	TROVE domain family, member 1	601686			NA	9403057	Standard	NM_007110	NM_007110	NA	Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000556935.1:c.3992G>A	14.37:g.20850180C>T	ENSP00000452574:p.Arg1331Gln	NA	A0AUV9	37		.	.	.	.	.	.	.	.	.	.	C	9.610	1.131068	0.21041	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.47177	0.89;0.85	5.22	-1.1	0.09872	.	1.168410	0.06032	N	0.653340	T	0.32823	0.0842	L	0.48362	1.52	0.09310	N	0.999999	B;B;B	0.23490	0.086;0.009;0.052	B;B;B	0.12837	0.008;0.005;0.003	T	0.16630	-1.0396	10	0.22706	T	0.39	-6.439	0.6813	0.00875	0.1717:0.3262:0.1566:0.3455	.	1331;782;1439	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	Q	1439;1439;1331	ENSP00000262715:R1439Q;ENSP00000452574:R1331Q	ENSP00000262715:R1439Q	R	-	2	0	TEP1	19920020	0.000000	0.05858	0.002000	0.10522	0.832000	0.47134	-0.892000	0.04131	-0.080000	0.12685	0.462000	0.41574	CGG	TEP1-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000410689.1		-	ENST00000556935.1	Missense_Mutation	SNP	14 : 20850180 - 20850180 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	363	61
CER1	9350	broad.mit.edu	37	9	14720268	14720268	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14720268G>A	ENST00000380911.3	-	2	668	c.624C>T	c.(622-624)caC>caT	p.H208H		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	208	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		CAGGCAAACAGTGAGAGCAGG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	110	119			NA	NA	9		NA											NA				14720268		2203	4300	6503	SO:0001819	synonymous_variant			AF090189	CCDS6476.1	9p23-p22	2013-02-26	2013-02-26		ENSG00000147869	ENSG00000147869	9350	9350			1862	protein-coding gene	gene with protein product		603777	cerberus 1 (Xenopus laevis) homolog (cysteine knot superfamily), cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis)		NA	10049596	Standard	NM_005454	NM_005454	NA	Approved	DAND4	uc003zlj.3	O95813	OTTHUMG00000021022	ENST00000380911.3:c.624C>T	9.37:g.14720268G>A		NA	Q6ISJ1|Q6ISJ6|Q6ISQ2|Q6ISS1	37	CCDS6476.1																																																																																			CER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055453.1		-	ENST00000380911.3	Silent	SNP	9 : 14720268 - 14720268 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	276	55
GIGYF1	64599	broad.mit.edu	37	7	100284964	100284964	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100284964G>A	ENST00000275732.5	-	5	1648	c.439C>T	c.(439-441)Cga>Tga	p.R147*	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	147										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CGGGGGCTTCGTCCAAAGGCC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	79	77			NA	NA	7		NA											NA				100284964		2203	4300	6503	SO:0001587	stop_gained			AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830	64599	64599			9126	protein-coding gene	gene with protein product	GYF domain containing 1	612064	PERQ amino acid rich, with GYF domain 1	PERQ1	NA	9799793, 12771153	Standard	NM_022574	NM_022574	NA	Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.439C>T	7.37:g.100284964G>A	ENSP00000275732:p.Arg147*	NA	Q6Y7W7|Q8WZ38	37	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	47	13.755068	0.99761	.	.	ENSG00000146830	ENST00000275732	.	.	.	5.21	2.19	0.27852	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0535	12.4892	0.55891	0.0:0.0:0.569:0.431	.	.	.	.	X	147	.	ENSP00000275732:R147X	R	-	1	2	GIGYF1	100122900	0.981000	0.34729	0.170000	0.22879	0.932000	0.56968	1.770000	0.38532	0.525000	0.28522	0.563000	0.77884	CGA	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347205.2		-	ENST00000275732.5	Nonsense_Mutation	SNP	7 : 100284964 - 100284964 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1010	170
PUF60	22827	broad.mit.edu	37	8	144899948	144899948	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144899948G>A	ENST00000526683.1	-	9	1377	c.822C>T	c.(820-822)taC>taT	p.Y274Y	PUF60_ENST00000453551.2_Silent_p.Y231Y|PUF60_ENST00000349157.6_Silent_p.Y257Y|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000313352.7_Silent_p.Y214Y|PUF60_ENST00000456095.2_Silent_p.Y245Y|PUF60_ENST00000527197.1_Silent_p.Y228Y	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	274	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 2.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGGCCTTCTCGTACTCTGTGG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,,	0,4302		0,0,2151	20	26	24		693,771,822	-1.6	1	8		24	2,8496		0,2,4247	no	coding-synonymous,coding-synonymous,coding-synonymous	PUF60	NM_001136033.1,NM_014281.3,NM_078480.1	,,	0,2,6398	AA,AG,GG	NA	0.0235,0.0,0.0156	,,	231/517,257/543,274/560	144899948	2,12798	2151	4249	6400	SO:0001819	synonymous_variant			AF114818	CCDS47933.1, CCDS47934.1, CCDS47935.1, CCDS59514.1, CCDS59515.1, CCDS59516.1	8q24.3	2013-02-12	2007-07-27		ENSG00000179950	ENSG00000179950	22827	22827		RNA binding motif (RRM) containing	17042	protein-coding gene	gene with protein product	siah binding protein 1, FBP interacting repressor, pyrimidine tract binding splicing factor, Ro ribonucleoprotein binding protein 1	604819			NA	10668799, 10882074, 17579712	Standard	NM_014281	NM_078480	NA	Approved	FIR, SIAHBP1, RoBPI	uc003yzs.4	Q9UHX1	OTTHUMG00000165155	ENST00000526683.1:c.822C>T	8.37:g.144899948G>A		NA	A8K8K8|Q969E7|Q96D94|Q96H63|Q99628|Q9NZA0|Q9UJY7	37	CCDS47934.1	.	.	.	.	.	.	.	.	.	.	G	4.940	0.174581	0.09391	0.0	2.35E-4	ENSG00000179950	ENST00000532884;ENST00000527744	.	.	.	3.92	-1.58	0.08479	.	.	.	.	.	T	0.54367	0.1854	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48896	-0.8994	4	.	.	.	.	9.2127	0.37328	0.7488:0.0:0.2512:0.0	.	.	.	.	M	144;272	.	.	T	-	2	0	PUF60	144971936	0.069000	0.21087	0.994000	0.49952	0.853000	0.48598	-0.440000	0.06888	-0.350000	0.08262	-1.119000	0.02030	ACG	PUF60-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382222.1		-	ENST00000526683.1	Silent	SNP	8 : 144899948 - 144899948 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	125	27
PKHD1L1	93035	broad.mit.edu	37	8	110478873	110478873	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110478873C>A	ENST00000378402.5	+	50	8584	c.8480C>A	c.(8479-8481)gCt>gAt	p.A2827D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2827					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACTCAGGAAGCTGAGTGGAGC	0.448		NA								HNSCC(38;0.096)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	91	93			NA	NA	8		NA											NA				110478873		1954	4168	6122	SO:0001583	missense			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038	93035	93035			20313	protein-coding gene	gene with protein product		607843			NA	12620974	Standard	NM_177531	NM_177531	NA	Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.8480C>A	8.37:g.110478873C>A	ENSP00000367655:p.Ala2827Asp	NA	Q567P2|Q9UF27	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.338684	0.24253	.	.	ENSG00000205038	ENST00000378402	D	0.86230	-2.09	6.16	4.26	0.50523	.	0.606576	0.16114	N	0.228944	T	0.80330	0.4603	L	0.48642	1.525	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.62539	-0.6833	10	0.11485	T	0.65	.	8.8625	0.35267	0.3014:0.553:0.1456:0.0	.	2827	Q86WI1	PKHL1_HUMAN	D	2827	ENSP00000367655:A2827D	ENSP00000367655:A2827D	A	+	2	0	PKHD1L1	110548049	0.002000	0.14202	0.098000	0.21074	0.605000	0.37080	1.615000	0.36922	1.597000	0.50072	0.650000	0.86243	GCT	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381017.1		+	ENST00000378402.5	Missense_Mutation	SNP	8 : 110478873 - 110478873 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	85	11
KRT5	3852	broad.mit.edu	37	12	52908948	52908948	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52908948G>A	ENST00000252242.4	-	9	1941	c.1551C>T	c.(1549-1551)ggC>ggT	p.G517G		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	517	Tail.		G -> D (in K-EBS).		epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		cgaggccgccgccaagacctc	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0										3,4403	6.2+/-15.9	0,3,2200	36	34	34		1551	-11.1	0	12		34	0,8600		0,0,4300	no	coding-synonymous	KRT5	NM_000424.3		0,3,6500	AA,AG,GG	NA	0.0,0.0681,0.0231		517/591	52908948	3,13003	2203	4300	6503	SO:0001819	synonymous_variant				CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081	3852	3852		-, Intermediate filaments type II, keratins (basic)	6442	protein-coding gene	gene with protein product		148040	epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types, keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)	EBS2	NA	1713141, 16831889	Standard		NM_000424	NA	Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.1551C>T	12.37:g.52908948G>A		NA	Q6PI71|Q6UBJ0|Q8TA91	37	CCDS8830.1																																																																																			KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405312.1		-	ENST00000252242.4	Silent	SNP	12 : 52908948 - 52908948 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	162	34
TRIML1	339976	broad.mit.edu	37	4	189067986	189067986	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:189067986G>A	ENST00000332517.3	+	6	1007	c.867G>A	c.(865-867)acG>acA	p.T289T	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	289	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CGGAGATAACGCTGGACCCAG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(31;213 1036 16579 23968 32372)							NA				0													142	145	144			NA	NA	4		NA											NA				189067986		2203	4300	6503	SO:0001819	synonymous_variant			AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108	339976	339976		RING-type (C3HC4) zinc fingers	26698	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_178556	NM_178556	NA	Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.867G>A	4.37:g.189067986G>A		NA	Q96BE5	37	CCDS3851.1																																																																																			TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359813.1		+	ENST00000332517.3	Silent	SNP	4 : 189067986 - 189067986 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1134	112
WDHD1	11169	broad.mit.edu	37	14	55462511	55462511	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55462511C>A	ENST00000360586.3	-	11	1028	c.963G>T	c.(961-963)aaG>aaT	p.K321N	WDHD1_ENST00000421192.1_Missense_Mutation_p.K198N|WDHD1_ENST00000420358.2_Missense_Mutation_p.K198N	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	321						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CATTATAATCCTTTTCCACTC	0.274		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	58	59			NA	NA	14		NA											NA				55462511		2203	4300	6503	SO:0001583	missense			AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554	11169	11169		WD repeat domain containing	23170	protein-coding gene	gene with protein product	CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)	608126			NA	9175701, 20028748	Standard	NM_007086	NM_007086	NA	Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.963G>T	14.37:g.55462511C>A	ENSP00000353793:p.Lys321Asn	NA		37	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.724696	0.30593	.	.	ENSG00000198554	ENST00000360586;ENST00000421192	T;T	0.64803	0.26;-0.12	4.99	1.88	0.25563	.	0.204668	0.49916	N	0.000137	T	0.46444	0.1393	L	0.49350	1.555	0.80722	D	1	B	0.16802	0.019	B	0.14578	0.011	T	0.28554	-1.0040	10	0.26408	T	0.33	.	2.1706	0.03848	0.2356:0.4012:0.0:0.3632	.	321	O75717	WDHD1_HUMAN	N	321;198	ENSP00000353793:K321N;ENSP00000391049:K198N	ENSP00000353793:K321N	K	-	3	2	WDHD1	54532261	0.933000	0.31639	1.000000	0.80357	0.941000	0.58515	-0.103000	0.10940	0.662000	0.31006	0.561000	0.74099	AAG	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276897.2		-	ENST00000360586.3	Missense_Mutation	SNP	14 : 55462511 - 55462511 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	146	27
HIF3A	64344	broad.mit.edu	37	19	46811543	46811543	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46811543C>T	ENST00000377670.4	+	4	460	c.429C>T	c.(427-429)gaC>gaT	p.D143D	HIF3A_ENST00000472815.1_Silent_p.D74D|HIF3A_ENST00000339613.2_Silent_p.D87D|HIF3A_ENST00000244303.6_Silent_p.D74D|HIF3A_ENST00000420102.2_Silent_p.D92D|HIF3A_ENST00000600383.1_Silent_p.D74D|HIF3A_ENST00000300862.3_Silent_p.D141D|HIF3A_ENST00000525854.1_3'UTR	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	143	PAS 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		AGCTTCAGGACGCCCTGACCC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,,	2,4404	4.2+/-10.8	0,2,2201	126	114	118		222,423,429,222	-7.6	0.8	19		118	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	HIF3A	NM_022462.4,NM_152794.3,NM_152795.3,NM_152796.2	,,,	0,2,6501	TT,TC,CC	NA	0.0,0.0454,0.0154	,,,	74/601,141/668,143/670,74/451	46811543	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440	64344	64344		Basic helix-loop-helix proteins	15825	protein-coding gene	gene with protein product		609976			NA	11573933, 11734856	Standard		NM_152794	NA	Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.429C>T	19.37:g.46811543C>T		NA	Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	37	CCDS12681.2	.	.	.	.	.	.	.	.	.	.	C	7.389	0.630319	0.14257	4.54E-4	0.0	ENSG00000124440	ENST00000472815	.	.	.	3.86	-7.63	0.01290	.	.	.	.	.	T	0.50684	0.1630	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57063	-0.7875	4	.	.	.	.	10.3415	0.43882	0.0:0.1631:0.1122:0.7247	.	.	.	.	C	116	.	.	R	+	1	0	HIF3A	51503383	0.000000	0.05858	0.823000	0.32752	0.993000	0.82548	-5.642000	0.00107	-1.573000	0.01659	0.561000	0.74099	CGC	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280556.3		+	ENST00000377670.4	Silent	SNP	19 : 46811543 - 46811543 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	665	113
ST6GALNAC3	256435	broad.mit.edu	37	1	76779638	76779638	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:76779638G>A	ENST00000328299.3	+	2	315	c.167G>A	c.(166-168)cGg>cAg	p.R56Q	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	56					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						ACATACAGGCGGCCCCTTCGA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	125	130			NA	NA	1		NA											NA				76779638		2203	4300	6503	SO:0001583	missense				CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005	256435	256435		Sialyltransferases	19343	protein-coding gene	gene with protein product	ST6GALNAC III	610133	sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C	SIAT7C	NA		Standard	NM_152996	NM_152996	NA	Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.167G>A	1.37:g.76779638G>A	ENSP00000329214:p.Arg56Gln	NA	Q6PCE0|Q6UX29|Q8N259	37	CCDS672.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385694	0.25031	.	.	ENSG00000184005	ENST00000394994;ENST00000328299;ENST00000394993	T	0.30182	1.54	5.12	2.17	0.27698	.	0.456464	0.24298	N	0.039741	T	0.03136	0.0092	N	0.03115	-0.41	0.22521	N	0.99902	B;B	0.24368	0.102;0.009	B;B	0.17722	0.019;0.002	T	0.45512	-0.9256	10	0.13108	T	0.6	-44.1687	7.3081	0.26459	0.3809:0.0:0.6191:0.0	.	56;56	Q8NDV1;Q8NDV1-2	SIA7C_HUMAN;.	Q	56;56;55	ENSP00000329214:R56Q	ENSP00000329214:R56Q	R	+	2	0	ST6GALNAC3	76552226	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.749000	0.38319	0.523000	0.28482	0.491000	0.48974	CGG	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026501.1		+	ENST00000328299.3	Missense_Mutation	SNP	1 : 76779638 - 76779638 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	400	28
SLC2A13	114134	broad.mit.edu	37	12	40499124	40499124	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40499124C>T	ENST00000280871.4	-	1	537	c.487G>A	c.(487-489)Gcg>Acg	p.A163T	SLC2A13_ENST00000380858.1_Missense_Mutation_p.A163T	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	163						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GCCAGCACCGCGGAGCCGGCG	0.741		NA								HNSCC(50;0.14)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													7	9	8			NA	NA	12		NA											NA				40499124		2136	4185	6321	SO:0001583	missense			AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229	114134	114134		Solute carriers	15956	protein-coding gene	gene with protein product	H(+)-myo-inositol symporter	611036			NA	11500374	Standard		NM_052885	NA	Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.487G>A	12.37:g.40499124C>T	ENSP00000280871:p.Ala163Thr	NA	Q17S07	37	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419577	0.62622	.	.	ENSG00000151229	ENST00000280871;ENST00000380858	T;T	0.60299	0.2;0.2	3.5	1.63	0.23807	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.623406	0.15357	N	0.266630	T	0.45816	0.1361	L	0.39467	1.215	0.29254	N	0.871781	P;P	0.47545	0.539;0.897	B;B	0.40444	0.329;0.329	T	0.43653	-0.9378	10	0.66056	D	0.02	-0.7911	9.3766	0.38286	0.0:0.8243:0.0:0.1757	.	163;163	Q96QE2;E9PE47	MYCT_HUMAN;.	T	163	ENSP00000280871:A163T;ENSP00000370239:A163T	ENSP00000280871:A163T	A	-	1	0	SLC2A13	38785391	0.868000	0.29978	0.962000	0.40283	0.910000	0.53928	0.216000	0.17585	0.202000	0.20498	0.462000	0.41574	GCG	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132849.2		-	ENST00000280871.4	Missense_Mutation	SNP	12 : 40499124 - 40499124 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	90	17
FAM129B	64855	broad.mit.edu	37	9	130270389	130270389	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130270389C>T	ENST00000373312.3	-	12	1738	c.1525G>A	c.(1525-1527)Gcc>Acc	p.A509T	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.A496T	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	509							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CAGGTAGGGGCCAGCTTCTTG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	67	65			NA	NA	9		NA											NA				130270389		2203	4300	6503	SO:0001583	missense			AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830	64855	64855			25282	protein-coding gene	gene with protein product		614045	chromosome 9 open reading frame 88	C9orf88	NA	14702039, 19362540	Standard	NM_022833	XM_005252135	NA	Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.1525G>A	9.37:g.130270389C>T	ENSP00000362409:p.Ala509Thr	NA	Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	37	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092529	0.76756	.	.	ENSG00000136830	ENST00000373314;ENST00000538931;ENST00000373312	T;T	0.26660	1.72;1.72	4.93	4.93	0.64822	.	0.353689	0.32134	N	0.006534	T	0.34019	0.0883	M	0.71036	2.16	0.45567	D	0.998511	D;P;P	0.53462	0.96;0.921;0.921	B;P;P	0.44772	0.384;0.46;0.46	T	0.21381	-1.0247	10	0.42905	T	0.14	-32.6963	15.6228	0.76820	0.0:1.0:0.0:0.0	.	159;496;509	F5H3T0;Q96TA1-2;Q96TA1	.;.;NIBL1_HUMAN	T	496;159;509	ENSP00000362411:A496T;ENSP00000362409:A509T	ENSP00000362409:A509T	A	-	1	0	FAM129B	129310210	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	0.837000	0.27558	2.266000	0.75297	0.561000	0.74099	GCC	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054196.1		-	ENST00000373312.3	Missense_Mutation	SNP	9 : 130270389 - 130270389 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	612	89
EPHA8	2046	broad.mit.edu	37	1	22903205	22903205	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22903205A>G	ENST00000166244.3	+	3	727	c.655A>G	c.(655-657)Acg>Gcg	p.T219A	EPHA8_ENST00000538803.1_Missense_Mutation_p.T219A|EPHA8_ENST00000374644.4_Missense_Mutation_p.T219A	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	219	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGAGGCAGTGACGGGGGCCGA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	47	48			NA	NA	1		NA											NA				22903205		2203	4300	6503	SO:0001583	missense			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2046	2046	2.7.10.1	EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3391	protein-coding gene	gene with protein product		176945	EphA8	EEK	NA	1648701	Standard	NM_020526	NM_001006943	NA	Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.655A>G	1.37:g.22903205A>G	ENSP00000166244:p.Thr219Ala	NA	Q9NUA9|Q9P269	37	CCDS225.1	.	.	.	.	.	.	.	.	.	.	A	15.80	2.940226	0.52972	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.73789	-0.78;5.07;5.07	4.0	4.0	0.46444	.	0.000000	0.85682	D	0.000000	T	0.76118	0.3943	L	0.33753	1.03	0.49582	D	0.999805	D;P	0.69078	0.997;0.926	D;P	0.75020	0.985;0.839	T	0.71371	-0.4613	10	0.19147	T	0.46	.	11.8592	0.52457	1.0:0.0:0.0:0.0	.	219;219	P29322;P29322-2	EPHA8_HUMAN;.	A	219	ENSP00000166244:T219A;ENSP00000363775:T219A;ENSP00000440274:T219A	ENSP00000166244:T219A	T	+	1	0	EPHA8	22775792	1.000000	0.71417	0.997000	0.53966	0.921000	0.55340	4.957000	0.63652	1.662000	0.50781	0.363000	0.22086	ACG	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000008085.1		+	ENST00000166244.3	Missense_Mutation	SNP	1 : 22903205 - 22903205 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	250	21
CACNA1B	774	broad.mit.edu	37	9	140809245	140809245	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140809245C>A	ENST00000371372.1	+	5	907	c.762C>A	c.(760-762)ttC>ttA	p.F254L	CACNA1B_ENST00000371355.4_Missense_Mutation_p.F254L|CACNA1B_ENST00000371357.1_Missense_Mutation_p.F254L|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.F254L|CACNA1B_ENST00000371363.1_Missense_Mutation_p.F254L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	254					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AGGCCTGTTTCCCCAACAGCA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	81	82			NA	NA	9		NA											NA				140809245		2129	4252	6381	SO:0001583	missense			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408	774	774		Calcium channel subunits, Voltage-gated ion channels / Calcium channels, EF-hand domain containing	1389	protein-coding gene	gene with protein product		601012		CACNL1A5	NA	8825650, 16382099	Standard	NM_000718	NM_000718	NA	Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.762C>A	9.37:g.140809245C>A	ENSP00000360423:p.Phe254Leu	NA	B1AQK5	37	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151009	0.38021	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.98381	-4.9;-4.9;-4.9;-4.9;-4.9	4.34	3.44	0.39384	.	0.111472	0.64402	D	0.000006	D	0.95887	0.8661	L	0.36672	1.1	0.80722	D	1	P	0.48503	0.911	P	0.45753	0.492	D	0.94161	0.7414	10	0.51188	T	0.08	.	8.9929	0.36035	0.0:0.8203:0.0:0.1797	.	254	B1AQK6	.	L	254	ENSP00000360423:F254L;ENSP00000277551:F254L;ENSP00000360414:F254L;ENSP00000360408:F254L;ENSP00000360406:F254L	ENSP00000277551:F254L	F	+	3	2	CACNA1B	139929066	0.980000	0.34600	0.998000	0.56505	0.929000	0.56500	2.042000	0.41222	1.011000	0.39340	0.561000	0.74099	TTC	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055380.1		+	ENST00000371372.1	Missense_Mutation	SNP	9 : 140809245 - 140809245 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	167	23
EPRS	2058	broad.mit.edu	37	1	220146653	220146653	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220146653T>C	ENST00000366923.3	-	29	4440	c.4171A>G	c.(4171-4173)Aca>Gca	p.T1391A		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1391	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TCAGCAACTGTCAGCTTTTCT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	152	156			NA	NA	1		NA											NA				220146653		2203	4300	6503	SO:0001583	missense			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	2058	2058	6.1.1.15, 6.1.1.17	Aminoacyl tRNA synthetases / Class I, Aminoacyl tRNA synthetases / Class II	3418	protein-coding gene	gene with protein product	glutamate tRNA ligase, proline tRNA ligase	138295		QPRS, QARS	NA	1988429	Standard	NM_004446	NM_004446	NA	Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.4171A>G	1.37:g.220146653T>C	ENSP00000355890:p.Thr1391Ala	NA	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	37	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.160452	0.78226	.	.	ENSG00000136628	ENST00000366923	D	0.82984	-1.67	5.81	5.81	0.92471	Anticodon-binding (3);	0.048876	0.85682	D	0.000000	D	0.83156	0.5193	L	0.59436	1.845	0.53005	D	0.999969	B	0.31640	0.333	B	0.37091	0.241	T	0.82780	-0.0288	10	0.56958	D	0.05	-14.8289	16.1668	0.81768	0.0:0.0:0.0:1.0	.	1391	P07814	SYEP_HUMAN	A	1391	ENSP00000355890:T1391A	ENSP00000355890:T1391A	T	-	1	0	EPRS	218213276	1.000000	0.71417	0.979000	0.43373	0.784000	0.44337	4.732000	0.62029	2.210000	0.71456	0.533000	0.62120	ACA	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091133.2		-	ENST00000366923.3	Missense_Mutation	SNP	1 : 220146653 - 220146653 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	602	24
DDB1	1642	broad.mit.edu	37	11	61079518	61079518	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61079518G>A	ENST00000301764.7	-	17	2505	c.2108C>T	c.(2107-2109)aCc>aTc	p.T703I	DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	703	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CTCATCGATGGTGCCAATGGT	0.552		NA						Nucleotide excision repair (NER)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													173	160	165			NA	NA	11		NA											NA				61079518		2203	4299	6502	SO:0001583	missense			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986	1642	1642			2717	protein-coding gene	gene with protein product		600045	damage-specific DNA binding protein 1 (127kD)		NA	8530102, 10574459	Standard	NM_001923	NM_001923	NA	Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.2108C>T	11.37:g.61079518G>A	ENSP00000301764:p.Thr703Ile	NA	A6NG77|B2R648|O15176|Q13289|Q58F96	37	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	G	31	5.074833	0.94000	.	.	ENSG00000167986	ENST00000301764;ENST00000535147	T;T	0.32023	1.47;1.47	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.59985	0.2234	M	0.81239	2.535	0.80722	D	1	D	0.71674	0.998	D	0.69142	0.962	T	0.60984	-0.7154	10	0.54805	T	0.06	-30.8279	19.9702	0.97282	0.0:0.0:1.0:0.0	.	703	Q16531	DDB1_HUMAN	I	703;170	ENSP00000301764:T703I;ENSP00000444650:T170I	ENSP00000301764:T703I	T	-	2	0	DDB1	60836094	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	9.869000	0.99810	2.724000	0.93272	0.491000	0.48974	ACC	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398816.1		-	ENST00000301764.7	Missense_Mutation	SNP	11 : 61079518 - 61079518 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	863	69
STAT6	6778	broad.mit.edu	37	12	57492642	57492642	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57492642C>T	ENST00000537215.2	-	17	2113	c.1669G>A	c.(1669-1671)Gtg>Atg	p.V557M	STAT6_ENST00000454075.3_Missense_Mutation_p.V667M|STAT6_ENST00000538913.2_Missense_Mutation_p.V557M|STAT6_ENST00000300134.3_Missense_Mutation_p.V667M|STAT6_ENST00000556155.1_Missense_Mutation_p.V667M|STAT6_ENST00000543873.2_Missense_Mutation_p.V667M	NM_001178080.1	NP_001171551.1	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	667	SH2.				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						TAAGAAGGCACCATGGTAGGC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	183	181			NA	NA	12		NA											NA				57492642		2203	4300	6503	SO:0001583	missense			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888	6778	6778		SH2 domain containing	11368	protein-coding gene	gene with protein product		601512			NA	9605853, 8085155	Standard	NM_003153	NM_003153	NA	Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000537215.2:c.1669G>A	12.37:g.57492642C>T	ENSP00000444530:p.Val557Met	NA	A8K316|Q5FBW5|Q71UP4	37	CCDS53804.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.074910	0.36566	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000555318;ENST00000542516	D;D;D;D;D;D;T	0.91945	-2.7;-2.94;-2.7;-2.7;-2.94;-2.7;-1.14	5.91	-2.12	0.07165	.	0.859837	0.10251	N	0.697198	D	0.82962	0.5151	N	0.24115	0.695	0.29201	N	0.875242	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.68232	-0.5463	10	0.46703	T	0.11	-1.3655	5.7139	0.17950	0.0:0.316:0.3716:0.3124	.	667;667	A8K4S9;P42226	.;STAT6_HUMAN	M	667;557;557;667;667;557;667;557;95;667	ENSP00000300134:V667M;ENSP00000445409:V557M;ENSP00000438451:V667M;ENSP00000451742:V667M;ENSP00000444530:V557M;ENSP00000401486:V667M;ENSP00000450428:V95M	ENSP00000300134:V667M	V	-	1	0	STAT6	55778909	0.020000	0.18652	0.064000	0.19789	0.933000	0.57130	-1.084000	0.03393	-0.754000	0.04715	-0.140000	0.14226	GTG	STAT6-006	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412254.1		-	ENST00000537215.2	Missense_Mutation	SNP	12 : 57492642 - 57492642 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	398	11
KCNH1	3756	broad.mit.edu	37	1	210971047	210971047	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210971047C>A	ENST00000367007.4	-	9	1806	c.1637G>T	c.(1636-1638)cGc>cTc	p.R546L	KCNH1_ENST00000271751.4_Missense_Mutation_p.R573L	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	573					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GAACACCTTGCGGTTCAGGTG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	58	59			NA	NA	1		NA											NA				210971047		2203	4300	6503	SO:0001583	missense			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473	3756	3756		Potassium channels, Voltage-gated ion channels / Potassium channels	6250	protein-coding gene	gene with protein product		603305			NA	9738473, 16382104	Standard	NM_002238	NM_172362	NA	Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000367007.4:c.1637G>T	1.37:g.210971047C>A	ENSP00000355974:p.Arg546Leu	NA	B1AQ26|O76035	37	CCDS31015.1	.	.	.	.	.	.	.	.	.	.	C	33	5.233888	0.95207	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.96334	-3.98;-3.98	5.36	5.36	0.76844	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.050022	0.85682	D	0.000000	D	0.98040	0.9354	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.75020	0.985;0.975	D	0.98880	1.0769	10	0.87932	D	0	.	19.0956	0.93249	0.0:1.0:0.0:0.0	.	546;573	Q14CL3;O95259	.;KCNH1_HUMAN	L	573;546	ENSP00000271751:R573L;ENSP00000355974:R546L	ENSP00000271751:R573L	R	-	2	0	KCNH1	209037670	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.531000	0.81973	2.506000	0.84524	0.655000	0.94253	CGC	KCNH1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088568.1		-	ENST00000367007.4	Missense_Mutation	SNP	1 : 210971047 - 210971047 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	398	60
UBA1	7317	broad.mit.edu	37	X	47065399	47065399	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47065399T>C	ENST00000335972.6	+	15	1811	c.1628T>C	c.(1627-1629)aTc>aCc	p.I543T	UBA1_ENST00000377351.4_Missense_Mutation_p.I543T|UBA1_ENST00000490869.1_Intron	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	543	2 approximate repeats.				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AATCCACATATCCGGGTGACA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	35	39			NA	NA	X		NA											NA				47065399		2201	4299	6500	SO:0001583	missense			AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	7317	7317	6.3.2.19	Ubiquitin-like modifier activating enzymes	12469	protein-coding gene	gene with protein product	UBA1, ubiquitin-activating enzyme E1 homolog (yeast), POC20 centriolar protein homolog (Chlamydomonas)	314370	ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing), ubiquitin-activating enzyme E1	A1S9T, GXP1, UBE1	NA	1845793	Standard	NM_003334	NM_153280	NA	Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.1628T>C	X.37:g.47065399T>C	ENSP00000338413:p.Ile543Thr	NA	Q5JRR8|Q96E13	37	CCDS14275.1	.	.	.	.	.	.	.	.	.	.	T	16.91	3.253058	0.59212	.	.	ENSG00000130985	ENST00000377351;ENST00000335972	T;T	0.46819	0.86;0.86	4.63	4.63	0.57726	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.259842	0.38720	N	0.001585	T	0.49338	0.1551	L	0.55990	1.75	0.80722	D	1	B	0.31256	0.316	B	0.39339	0.297	T	0.54357	-0.8306	10	0.72032	D	0.01	-20.5189	12.3933	0.55370	0.0:0.0:0.0:1.0	.	543	P22314	UBA1_HUMAN	T	543	ENSP00000366568:I543T;ENSP00000338413:I543T	ENSP00000338413:I543T	I	+	2	0	UBA1	46950343	0.983000	0.35010	0.849000	0.33467	0.954000	0.61252	7.959000	0.87885	1.630000	0.50440	0.483000	0.47432	ATC	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056389.1		+	ENST00000335972.6	Missense_Mutation	SNP	X : 47065399 - 47065399 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	73	7
FERMT1	55612	broad.mit.edu	37	20	6091159	6091159	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:6091159C>A	ENST00000217289.4	-	5	1321		c.e5-1		FERMT1_ENST00000536936.1_Intron	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	NA					cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CCAGGACTTACTGCAAGGCAG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	134	135			NA	NA	20		NA											NA				6091159		2203	4300	6503	SO:0001630	splice_region_variant			AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311	55612	55612		Fermitins, Pleckstrin homology (PH) domain containing	15889	protein-coding gene	gene with protein product	kindlin-1, kinderlin	607900	chromosome 20 open reading frame 42, fermitin family homolog 1 (Drosophila)	C20orf42	NA	12697302, 12789646	Standard	NM_017671	NM_017671	NA	Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.533-1G>T	20.37:g.6091159C>A		NA	D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	37	CCDS13098.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943291	0.53079	.	.	ENSG00000101311	ENST00000217289;ENST00000339538	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0763	0.97746	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FERMT1	6039159	1.000000	0.71417	0.999000	0.59377	0.614000	0.37383	5.684000	0.68197	2.756000	0.94617	0.655000	0.94253	.	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077908.2	Intron	-	ENST00000217289.4	Splice_Site	SNP	20 : 6091159 - 6091159 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	523	116
CNGA4	1262	broad.mit.edu	37	11	6261612	6261612	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6261612C>T	ENST00000533426.1	+	4	302				CNGA4_ENST00000379936.2_Silent_p.F196F			Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	NA					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCTGGGCTTCGGGCGTGACG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4396		0,0,2198	62	65	64		588	-1.8	1	11		64	1,8583		0,1,4291	no	coding-synonymous	CNGA4	NM_001037329.3		0,1,6489	TT,TC,CC	NA	0.0116,0.0,0.0077		196/576	6261612	1,12979	2198	4292	6490	SO:0001627	intron_variant			AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259	1262	1262		Voltage-gated ion channels / Cyclic nucleotide-regulated channels	2152	protein-coding gene	gene with protein product		609472	cyclic nucleotide gated channel beta 2	CNCA2, CNGB2	NA	11764791, 16382102	Standard	NM_001037329	NM_001037329	NA	Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000533426.1:c.152-257C>T	11.37:g.6261612C>T		NA		37																																																																																				CNGA4-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000383763.1		+	ENST00000533426.1	Intron	SNP	11 : 6261612 - 6261612 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	694	145
CUZD1	50624	broad.mit.edu	37	10	124594412	124594412	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124594412C>T	ENST00000368904.1	-	9	2141	c.1192G>A	c.(1192-1194)Gct>Act	p.A398T	CUZD1_ENST00000545804.1_Missense_Mutation_p.A398T|CUZD1_ENST00000392790.1_Missense_Mutation_p.A398T			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	398	ZP.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		TCAAAAAGAGCCATGCTGGTG	0.343		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	10		NA											NA				124594412		2203	4300	6503	SO:0001583	missense			AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161	50624	50624			17937	protein-coding gene	gene with protein product					NA	10542259	Standard	NM_022034	NM_022034	NA	Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.1192G>A	10.37:g.124594412C>T	ENSP00000357900:p.Ala398Thr	NA	A8K080|B2RN93|D3DRE5|Q7Z660|Q7Z661|Q86SG1|Q86UP5|Q9HAR7	37	CCDS7631.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126578	0.56721	.	.	ENSG00000138161	ENST00000368904;ENST00000368901;ENST00000368900;ENST00000338948;ENST00000368899;ENST00000545804;ENST00000392790	D;D;D	0.82167	-1.58;-1.58;-1.58	4.81	3.86	0.44501	Zona pellucida sperm-binding protein (3);	0.182978	0.45606	D	0.000341	D	0.83312	0.5227	L	0.46741	1.465	0.31908	N	0.615022	D	0.61080	0.989	P	0.57620	0.824	T	0.80997	-0.1132	10	0.18710	T	0.47	-12.2227	12.0467	0.53483	0.3723:0.6277:0.0:0.0	.	398	Q86UP6	CUZD1_HUMAN	T	398;117;117;32;117;398;398	ENSP00000357900:A398T;ENSP00000441590:A398T;ENSP00000376540:A398T	ENSP00000340905:A32T	A	-	1	0	CUZD1	124584402	0.999000	0.42202	1.000000	0.80357	0.431000	0.31685	0.854000	0.27791	2.217000	0.71921	0.460000	0.39030	GCT	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050829.2		-	ENST00000368904.1	Missense_Mutation	SNP	10 : 124594412 - 124594412 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	286	49
MAP3K7CL	56911	broad.mit.edu	37	21	30521531	30521531	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30521531C>T	ENST00000399935.2	+	8	759	c.92C>T	c.(91-93)tCc>tTc	p.S31F	MAP3K7CL_ENST00000286791.5_3'UTR|MAP3K7CL_ENST00000399928.1_Missense_Mutation_p.S31F|MAP3K7CL_ENST00000399947.2_Missense_Mutation_p.S131F|MAP3K7CL_ENST00000545939.1_Missense_Mutation_p.S25F|MAP3K7CL_ENST00000341618.4_Missense_Mutation_p.S131F|MAP3K7CL_ENST00000339024.4_Missense_Mutation_p.S31F|MAP3K7CL_ENST00000399926.1_Missense_Mutation_p.S31F|MAP3K7CL_ENST00000399925.1_Missense_Mutation_p.S31F|MAP3K7CL_ENST00000399934.1_Missense_Mutation_p.S31F					MAP3K7 C-terminal like	NA											NA						CCTGAAGACTCCATTCCTTTG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	158	161			NA	NA	21		NA											NA				30521531		2203	4300	6503	SO:0001583	missense			AF269161	CCDS13584.1, CCDS68182.1, CCDS74775.1	21q22.3	2013-02-22	2013-02-22	2013-02-22	ENSG00000156265	ENSG00000156265	56911	56911			16457	protein-coding gene	gene with protein product		611110	chromosome 21 open reading frame 7	C21orf7	NA		Standard	NM_020152	NM_020152	NA	Approved	TAKL, TAK1L, TAKL-1, TAKL-2, TAKL-4	uc002ynf.3	P57077	OTTHUMG00000078806	ENST00000399935.2:c.92C>T	21.37:g.30521531C>T	ENSP00000382817:p.Ser31Phe	NA		37		.	.	.	.	.	.	.	.	.	.	C	11.15	1.552610	0.27739	.	.	ENSG00000156265	ENST00000545939;ENST00000341618;ENST00000399935;ENST00000399934;ENST00000399947;ENST00000339024;ENST00000399928;ENST00000399926;ENST00000399925;ENST00000451489	T;T	0.51817	0.69;0.69	4.49	2.66	0.31614	.	0.887861	0.09902	N	0.740977	T	0.40719	0.1128	L	0.54323	1.7	0.30889	N	0.730516	B;B	0.15473	0.0;0.013	B;B	0.12156	0.001;0.007	T	0.43261	-0.9402	10	0.45353	T	0.12	1.3396	5.3129	0.15841	0.1485:0.6289:0.1437:0.0789	.	31;131	B0EVZ8;P57077	.;TAK1L_HUMAN	F	25;131;31;31;131;31;31;31;31;31	ENSP00000343212:S131F;ENSP00000382828:S131F	ENSP00000345777:S31F	S	+	2	0	C21orf7	29443402	0.074000	0.21230	0.280000	0.24747	0.538000	0.34931	0.984000	0.29565	0.816000	0.34421	0.655000	0.94253	TCC	MAP3K7CL-003	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000171867.2		+	ENST00000399935.2	Missense_Mutation	SNP	21 : 30521531 - 30521531 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	577	98
DYNC2H1	79659	broad.mit.edu	37	11	103158293	103158293	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103158293G>T	ENST00000375735.2	+	75	11198	c.11054G>T	c.(11053-11055)aGa>aTa	p.R3685I	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R3692I	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3685					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGACCGGACAGATTGCAAAGT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	92	94			NA	NA	11		NA											NA				103158293		1836	4086	5922	SO:0001583	missense			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240	79659	79659		Cytoplasmic dyneins	2962	protein-coding gene	gene with protein product		603297	dynein, cytoplasmic, heavy polypeptide 2	DNCH2	NA	9763680, 9373155	Standard	XM_370652	NM_001080463	NA	Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.11054G>T	11.37:g.103158293G>T	ENSP00000364887:p.Arg3685Ile	NA	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	33	5.218475	0.95104	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.16597	2.33;2.33	5.79	5.79	0.91817	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.53883	0.1824	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.993;0.997	T	0.62835	-0.6770	10	0.87932	D	0	.	19.6264	0.95679	0.0:0.0:1.0:0.0	.	3685;3692	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	I	3685;3692	ENSP00000364887:R3685I;ENSP00000381167:R3692I	ENSP00000364887:R3685I	R	+	2	0	DYNC2H1	102663503	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.711000	0.84669	2.746000	0.94184	0.655000	0.94253	AGA	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387196.1		+	ENST00000375735.2	Missense_Mutation	SNP	11 : 103158293 - 103158293 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	143	20
BRWD3	254065	broad.mit.edu	37	X	79932771	79932771	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79932771A>C	ENST00000373275.4	-	41	4962	c.4746T>G	c.(4744-4746)gaT>gaG	p.D1582E	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1582										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ccatgttttcatcttcttctG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	42	43			NA	NA	X		NA											NA				79932771		2203	4300	6503	SO:0001583	missense				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288	254065	254065		WD repeat domain containing	17342	protein-coding gene	gene with protein product		300553			NA	15543602, 16094372	Standard	NM_153252	NM_153252	NA	Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4746T>G	X.37:g.79932771A>C	ENSP00000362372:p.Asp1582Glu	NA	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	37	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	A	4.040	0.005016	0.07866	.	.	ENSG00000165288	ENST00000373275	T	0.52057	0.68	4.28	1.79	0.24919	.	0.533748	0.18881	N	0.128578	T	0.27454	0.0674	N	0.22421	0.69	0.26157	N	0.980056	B	0.11235	0.004	B	0.10450	0.005	T	0.16041	-1.0416	9	.	.	.	-7.9796	5.2779	0.15659	0.7522:0.0:0.0889:0.1589	.	1582	Q6RI45	BRWD3_HUMAN	E	1582	ENSP00000362372:D1582E	.	D	-	3	2	BRWD3	79819427	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	0.614000	0.24314	0.074000	0.16767	0.412000	0.27726	GAT	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057344.1		-	ENST00000373275.4	Missense_Mutation	SNP	X : 79932771 - 79932771 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	194	68
COL6A3	1293	broad.mit.edu	37	2	238285711	238285711	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238285711C>T	ENST00000295550.4	-	7	3226	c.2774G>A	c.(2773-2775)aGg>aAg	p.R925K	COL6A3_ENST00000472056.1_Missense_Mutation_p.R318K|COL6A3_ENST00000392003.2_Missense_Mutation_p.R518K|COL6A3_ENST00000409809.1_Missense_Mutation_p.R719K|COL6A3_ENST00000346358.4_Missense_Mutation_p.R725K|COL6A3_ENST00000353578.4_Missense_Mutation_p.R719K|COL6A3_ENST00000347401.3_Missense_Mutation_p.R724K|COL6A3_ENST00000392004.3_Missense_Mutation_p.R719K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	925	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAAAATGTACCTCTGTGCATA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	75	79			NA	NA	2		NA											NA				238285711		2203	4300	6503	SO:0001583	missense			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359	1293	1293		Collagens	2213	protein-coding gene	gene with protein product		120250			NA	1339440, 11992252	Standard	NM_004369	NM_004369	NA	Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.2774G>A	2.37:g.238285711C>T	ENSP00000295550:p.Arg925Lys	NA	Q16501|Q53QF4|Q53QF6	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.286726	0.40494	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	5.55	4.67	0.58626	von Willebrand factor, type A (3);	0.103753	0.41396	D	0.000884	T	0.82144	0.4973	N	0.25426	0.745	0.19575	N	0.999968	B;P;B;B;P;B	0.50943	0.09;0.94;0.149;0.291;0.866;0.201	B;P;B;P;P;B	0.57548	0.13;0.823;0.314;0.491;0.591;0.13	T	0.73483	-0.3968	10	0.22706	T	0.39	.	14.6055	0.68475	0.0:0.9293:0.0:0.0707	.	725;318;518;719;719;925	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	K	925;724;719;318;719;725;719;518	ENSP00000295550:R925K;ENSP00000315609:R724K;ENSP00000315873:R719K;ENSP00000418285:R318K;ENSP00000386844:R719K;ENSP00000295546:R725K;ENSP00000375861:R719K;ENSP00000375860:R518K	ENSP00000295550:R925K	R	-	2	0	COL6A3	237950450	0.001000	0.12720	0.005000	0.12908	0.365000	0.29674	1.221000	0.32503	1.335000	0.45486	0.655000	0.94253	AGG	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000315790.2		-	ENST00000295550.4	Missense_Mutation	SNP	2 : 238285711 - 238285711 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	484	86
ITCH	83737	broad.mit.edu	37	20	33057852	33057852	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33057852G>A	ENST00000374864.4	+	15	1637		c.e15-1		ITCH_ENST00000262650.6_Splice_Site|ITCH_ENST00000483727.1_Splice_Site|ITCH_ENST00000535650.1_Splice_Site	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	NA					apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TTCTTCCTCAGAGACAATGGA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													223	211	215			NA	NA	20		NA											NA				33057852		2203	4300	6503	SO:0001630	splice_region_variant			AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747	83737	83737			13890	protein-coding gene	gene with protein product		606409	itchy (mouse homolog) E3 ubiquitin protein ligase, itchy E3 ubiquitin protein ligase homolog (mouse)		NA	11318614	Standard		NM_001257137	NA	Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000374864.4:c.1425-1G>A	20.37:g.33057852G>A		NA	A6NEW4|E1P5P3|O43584|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	37	CCDS13234.1	.	.	.	.	.	.	.	.	.	.	G	31	5.080202	0.94050	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2544	0.98414	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITCH	32521513	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.471000	0.97696	2.885000	0.99019	0.655000	0.94253	.	ITCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078782.1	Intron	+	ENST00000374864.4	Splice_Site	SNP	20 : 33057852 - 33057852 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	878	147
SLC4A5	57835	broad.mit.edu	37	2	74491293	74491293	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74491293C>T	ENST00000394019.2	-	10	1093	c.696G>A	c.(694-696)ggG>ggA	p.G232G	SLC4A5_ENST00000423644.1_Silent_p.G232G|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000377632.1_Silent_p.G232G|SLC4A5_ENST00000346834.4_Silent_p.G232G|SLC4A5_ENST00000357822.5_Silent_p.G232G|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000358683.4_Silent_p.G168G|SLC4A5_ENST00000359484.4_Silent_p.G168G|SLC4A5_ENST00000377634.4_Silent_p.G232G	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	232						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGACTGACTTCCCAATGTCAG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	140	149			NA	NA	2		NA											NA				74491293		2203	4300	6503	SO:0001819	synonymous_variant			AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687	57835	57835		Solute carriers	18168	protein-coding gene	gene with protein product		606757	solute carrier family 4, sodium bicarbonate cotransporter, member 5		NA	10978526, 11087115	Standard		NM_133478	NA	Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000394019.2:c.696G>A	2.37:g.74491293C>T		NA	Q32MA7|Q59EQ9|Q8WXD3|Q8WXD7|Q96DS7|Q96DS8|Q9HBU5	37	CCDS1937.1																																																																																			SLC4A5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206584.2		-	ENST00000394019.2	Silent	SNP	2 : 74491293 - 74491293 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	241	6
MTMR9	66036	broad.mit.edu	37	8	11157552	11157552	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11157552C>A	ENST00000526292.1	+	3	353	c.57C>A	c.(55-57)tcC>tcA	p.S19S	MTMR9_ENST00000221086.3_Silent_p.S104S			Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	104						cytoplasm	phosphatase activity|protein binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		CTCTGGACTCCATCACTCTGA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													186	175	179			NA	NA	8		NA											NA				11157552		2203	4300	6503	SO:0001819	synonymous_variant			AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643	66036	66036		Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins	14596	protein-coding gene	gene with protein product		606260	myotubularin related protein 8	C8orf9, MTMR8	NA	11472061, 11896452, 12890864	Standard	NM_015458	NM_015458	NA	Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000526292.1:c.57C>A	8.37:g.11157552C>A		NA	Q52LU3|Q8WW11|Q96QG6|Q9NX50	37																																																																																				MTMR9-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000383639.1		+	ENST00000526292.1	Silent	SNP	8 : 11157552 - 11157552 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	845	33
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899046	112899046	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112899046G>A	ENST00000374530.3	+	8	1402	c.1222G>A	c.(1222-1224)Gcc>Acc	p.A408T	PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A408T|AKAP2_ENST00000434623.2_Missense_Mutation_p.A266T|AKAP2_ENST00000259318.7_Missense_Mutation_p.A177T|AKAP2_ENST00000374525.1_Missense_Mutation_p.A266T|AKAP2_ENST00000510514.5_Missense_Mutation_p.A408T|AKAP2_ENST00000555236.1_Missense_Mutation_p.A408T	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN	PALM2-AKAP2 readthrough	177							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GAAAAAGGAGGCCAAGTTTGA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	79	81			NA	NA	9		NA											NA				112899046		2203	4300	6503	SO:0001583	missense			AB023137	CCDS35100.1, CCDS35101.1	9q31.3	2010-02-17			ENSG00000157654	ENSG00000157654	445815	445815			33529	other	readthrough					NA	11478809	Standard		NM_147150	NA	Approved		uc004bej.4		OTTHUMG00000156812	ENST00000374530.3:c.1222G>A	9.37:g.112899046G>A	ENSP00000363654:p.Ala408Thr	NA	B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	37	CCDS35100.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907713	0.92107	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.70404	0.3220	M	0.70275	2.135	0.80722	D	1	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	D;D;D;D;D;D;D;D	0.91635	0.998;0.999;0.996;0.999;0.997;0.998;0.998;0.996	T	0.68969	-0.5269	10	0.59425	D	0.04	-28.0429	19.8676	0.96824	0.0:0.0:1.0:0.0	.	177;266;260;266;267;408;408;226	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	T	408;408;408;408;266;266;226;177	ENSP00000363654:A408T;ENSP00000305861:A408T;ENSP00000451476:A408T;ENSP00000421522:A408T;ENSP00000404782:A266T;ENSP00000363649:A266T;ENSP00000419268:A226T;ENSP00000259318:A177T	ENSP00000259318:A177T	A	+	1	0	PALM2-AKAP2;AKAP2	111938867	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.405000	0.97313	2.941000	0.99782	0.655000	0.94253	GCC	PALM2-AKAP2-001	KNOWN	basic|appris_candidate_longest|readthrough_transcript|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053603.1		+	ENST00000374530.3	Missense_Mutation	SNP	9 : 112899046 - 112899046 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	62
SPZ1	84654	broad.mit.edu	37	5	79616966	79616966	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79616966G>A	ENST00000296739.4	+	1	1177	c.932G>A	c.(931-933)aGc>aAc	p.S311N		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	311	Leucine-zipper.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AAGAAACTGAGCCATGACACC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	121	122			NA	NA	5		NA											NA				79616966		1928	4132	6060	SO:0001583	missense				CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299	84654	84654			30721	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 148				NA	11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567	NM_032567	NA	Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.932G>A	5.37:g.79616966G>A	ENSP00000369611:p.Ser311Asn	NA	B2RA21|Q8N4P1|Q8N7E9	37	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	G	6.083	0.383628	0.11524	.	.	ENSG00000164299	ENST00000296739	T	0.30714	1.52	4.4	0.319	0.15873	.	1.382680	0.04413	N	0.366357	T	0.23766	0.0575	L	0.34521	1.04	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.22906	-1.0203	10	0.27082	T	0.32	-10.4049	7.5922	0.28027	0.6711:0.0:0.3289:0.0	.	311	Q9BXG8	SPZ1_HUMAN	N	311	ENSP00000369611:S311N	ENSP00000369611:S311N	S	+	2	0	SPZ1	79652722	0.014000	0.17966	0.000000	0.03702	0.007000	0.05969	0.609000	0.24238	0.051000	0.15978	-0.262000	0.10625	AGC	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369322.1		+	ENST00000296739.4	Missense_Mutation	SNP	5 : 79616966 - 79616966 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	444	92
UBN1	29855	broad.mit.edu	37	16	4927465	4927465	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4927465G>A	ENST00000396658.4	+	16	4048	c.3345G>A	c.(3343-3345)caG>caA	p.Q1115Q	UBN1_ENST00000545171.1_Intron|UBN1_ENST00000590769.1_Intron|UBN1_ENST00000262376.6_Silent_p.Q1115Q	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	1115					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						ATATCCCGCAGAGTCTGCCAG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	118	116			NA	NA	16		NA											NA				4927465		2197	4300	6497	SO:0001819	synonymous_variant			AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900	29855	29855			12506	protein-coding gene	gene with protein product		609771			NA	10725330	Standard	NM_016936	XM_005255277	NA	Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.3345G>A	16.37:g.4927465G>A		NA	B7Z6D3|D3DUE8|Q13079|Q9P1P7	37	CCDS10525.1																																																																																			UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251719.1		+	ENST00000396658.4	Silent	SNP	16 : 4927465 - 4927465 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1324	268
UFD1L	7353	broad.mit.edu	37	22	19459280	19459280	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19459280G>A	ENST00000484101.1	-	0	476				UFD1L_ENST00000399523.1_Missense_Mutation_p.S74L|UFD1L_ENST00000360834.4_Missense_Mutation_p.S63L|UFD1L_ENST00000263202.10_Missense_Mutation_p.S74L			Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)	NA					skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity			large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					CATGCGGTCCGAATTCTTATT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	88	95			NA	NA	22		NA											NA				19459280		2203	4300	6503	SO:0001623	5_prime_UTR_variant			AJ239058	CCDS13761.1, CCDS33600.1, CCDS33600.2	22q11.2	2014-05-02	2005-10-10		ENSG00000070010	ENSG00000070010	7353	7353			12520	protein-coding gene	gene with protein product		601754	ubiquitin fusion degradation 1-like		NA	9063746	Standard		NM_005659	NA	Approved	UFD1	uc002zpm.2	Q92890	OTTHUMG00000150130	ENST00000484101.1:c.-275C>T	22.37:g.19459280G>A		NA	Q9Y5N0	37		.	.	.	.	.	.	.	.	.	.	G	20.4	3.986677	0.74589	.	.	ENSG00000070010	ENST00000263202;ENST00000360834;ENST00000399523;ENST00000399525;ENST00000421968;ENST00000494054;ENST00000474226	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.41534	0.1163	L	0.46157	1.445	0.80722	D	1	B;B;B	0.13594	0.008;0.001;0.002	B;B;B	0.17722	0.019;0.007;0.007	T	0.14254	-1.0479	10	0.33940	T	0.23	.	19.7254	0.96162	0.0:0.0:1.0:0.0	.	74;74;74	B4E3I3;A8MW31;Q92890	.;.;UFD1_HUMAN	L	74;63;74;74;63;69;10	ENSP00000263202:S74L;ENSP00000354079:S63L;ENSP00000382439:S74L;ENSP00000406680:S63L;ENSP00000418390:S69L;ENSP00000418295:S10L	ENSP00000263202:S74L	S	-	2	0	UFD1L	17839280	1.000000	0.71417	0.945000	0.38365	0.970000	0.65996	9.476000	0.97823	2.732000	0.93576	0.650000	0.86243	TCG	UFD1L-005	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000316498.1		-	ENST00000484101.1	5'UTR	SNP	22 : 19459280 - 19459280 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	283	79
FOPNL	123811	broad.mit.edu	37	16	15982427	15982427	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15982427C>T	ENST00000255759.6	-	1	45	c.16G>A	c.(16-18)Gag>Aag	p.E6K	FOPNL_ENST00000575744.1_Missense_Mutation_p.E6K|FOPNL_ENST00000573396.1_Missense_Mutation_p.E6K|FOPNL_ENST00000575073.1_Missense_Mutation_p.E6K|FOPNL_ENST00000573968.1_Missense_Mutation_p.E6K|FOPNL_ENST00000573429.1_Missense_Mutation_p.E6K	NM_144600.2	NP_653201.1	Q96NB1	FOPNL_HUMAN	FGFR1OP N-terminal like	6	Necessary and sufficient for homooligomerization and localization to centrosomes and pericentriolar satellites.				cilium assembly|microtubule anchoring	centriolar satellite|microtubule basal body|motile cilium	identical protein binding			breast(1)|large_intestine(1)|lung(5)|stomach(4)	11						GCCTTCAACTCTGCCACAGTC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	37	36			NA	NA	16		NA											NA				15982427		2197	4300	6497	SO:0001583	missense			AL832498	CCDS10567.1	16p13.11	2011-03-18	2011-03-18	2011-03-18	ENSG00000133393	ENSG00000133393	123811	123811			26435	protein-coding gene	gene with protein product	pluripotent embryonic stem cell-related protein, FOP-related protein of 20 kDa		chromosome 16 open reading frame 63	C16orf63	NA	12477932	Standard	NM_144600	NM_144600	NA	Approved	DKFZp686N1651, FLJ31153, PHSECRG2, FOR20	uc002dec.1	Q96NB1	OTTHUMG00000129923	ENST00000255759.6:c.16G>A	16.37:g.15982427C>T	ENSP00000255759:p.Glu6Lys	NA		37	CCDS10567.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561668	0.65538	.	.	ENSG00000133393	ENST00000255759	.	.	.	5.63	5.63	0.86233	.	0.110116	0.64402	D	0.000010	T	0.74253	0.3692	M	0.65498	2.005	0.51233	D	0.999917	P;D	0.65815	0.919;0.995	B;P	0.57244	0.324;0.816	T	0.75190	-0.3405	9	0.56958	D	0.05	0.8445	17.212	0.86932	0.0:1.0:0.0:0.0	.	6;6	B3KPU9;Q96NB1	.;FOPNL_HUMAN	K	6	.	ENSP00000255759:E6K	E	-	1	0	FOPNL	15889928	0.997000	0.39634	0.950000	0.38849	0.031000	0.12232	3.902000	0.56310	2.826000	0.97356	0.655000	0.94253	GAG	FOPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252177.2		-	ENST00000255759.6	Missense_Mutation	SNP	16 : 15982427 - 15982427 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	57
FOXE1	2304	broad.mit.edu	37	9	100617275	100617275	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100617275C>T	ENST00000375123.3	+	1	1740	c.1079C>T	c.(1078-1080)gCc>gTc	p.A360V		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	360					cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter 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			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				CGCCATGCTGCCGCTTATCCC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	21	21			NA	NA	9		NA											NA				100617275		2183	4268	6451	SO:0001583	missense			U89995	CCDS35078.1	9q22	2008-09-05			ENSG00000178919	ENSG00000178919	2304	2304		Forkhead boxes	3806	protein-coding gene	gene with protein product		602617	forkhead box E2	FKHL15, TITF2, FOXE2	NA	9169137, 9697705	Standard		NM_004473	NA	Approved	TTF-2, HFKH4	uc004axu.3	O00358	OTTHUMG00000020333	ENST00000375123.3:c.1079C>T	9.37:g.100617275C>T	ENSP00000364265:p.Ala360Val	NA	O75765|Q5T109|Q99526	37	CCDS35078.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005295	0.35415	.	.	ENSG00000178919	ENST00000375123	D	0.93953	-3.32	4.78	3.86	0.44501	.	38.421700	0.01330	U	0.011232	D	0.88235	0.6382	N	0.08118	0	0.20489	N	0.999892	B	0.20052	0.041	B	0.19391	0.025	T	0.76168	-0.3058	10	0.52906	T	0.07	.	12.2963	0.54849	0.171:0.829:0.0:0.0	.	360	O00358	FOXE1_HUMAN	V	360	ENSP00000364265:A360V	ENSP00000364265:A360V	A	+	2	0	FOXE1	99657096	0.933000	0.31639	0.030000	0.17652	0.061000	0.15899	2.731000	0.47343	1.334000	0.45468	0.555000	0.69702	GCC	FOXE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053341.1		+	ENST00000375123.3	Missense_Mutation	SNP	9 : 100617275 - 100617275 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	227	39
ARRDC4	91947	broad.mit.edu	37	15	98508838	98508838	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:98508838A>G	ENST00000268042.6	+	2	480	c.316A>G	c.(316-318)Atc>Gtc	p.I106V	ARRDC4_ENST00000538249.1_Missense_Mutation_p.I19V	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	106					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			AGGTGAAGGCATCATTTTATT	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	117	116			NA	NA	15		NA											NA				98508838		2197	4298	6495	SO:0001583	missense			BC028704	CCDS10377.1	15q26.2	2005-08-16			ENSG00000140450	ENSG00000140450	91947	91947			28087	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_183376	NM_183376	NA	Approved	FLJ36045	uc010bom.3	Q8NCT1	OTTHUMG00000149849	ENST00000268042.6:c.316A>G	15.37:g.98508838A>G	ENSP00000268042:p.Ile106Val	NA	Q6NSI9	37	CCDS10377.1	.	.	.	.	.	.	.	.	.	.	A	4.406	0.075076	0.08485	.	.	ENSG00000140450	ENST00000538249;ENST00000268042	T;T	0.12984	2.63;3.34	5.81	-1.79	0.07932	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	2.240820	0.01691	N	0.026654	T	0.06600	0.0169	N	0.11927	0.2	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.22556	-1.0213	10	0.11485	T	0.65	-10.3062	2.6754	0.05080	0.3704:0.1052:0.3795:0.1449	.	106;19	Q8NCT1;F5H824	ARRD4_HUMAN;.	V	19;106	ENSP00000443774:I19V;ENSP00000268042:I106V	ENSP00000268042:I106V	I	+	1	0	ARRDC4	96309842	0.066000	0.20996	0.015000	0.15790	0.964000	0.63967	-0.056000	0.11787	-0.328000	0.08539	0.455000	0.32223	ATC	ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313535.1		+	ENST00000268042.6	Missense_Mutation	SNP	15 : 98508838 - 98508838 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	463	85
LRP1	4035	broad.mit.edu	37	12	57606279	57606279	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57606279G>A	ENST00000243077.3	+	89	14042	c.13576G>A	c.(13576-13578)Gag>Aag	p.E4526K		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4526	Interaction with MAFB (By similarity).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAGCACGGACGAGAAGCGAGA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	58	59			NA	NA	12		NA											NA				57606279		2203	4300	6503	SO:0001583	missense			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384	4035	4035		CD molecules, Low density lipoprotein receptors	6692	protein-coding gene	gene with protein product		107770	alpha-2-macroglobulin receptor	APR, A2MR	NA	2548950	Standard	NM_002332	NM_002332	NA	Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.13576G>A	12.37:g.57606279G>A	ENSP00000243077:p.Glu4526Lys	NA	Q2PP12|Q8IVG8	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403715	0.83230	.	.	ENSG00000123384	ENST00000243077	T	0.51817	0.69	4.66	3.75	0.43078	.	0.000000	0.53938	D	0.000054	T	0.66396	0.2785	M	0.73598	2.24	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.70695	-0.4801	10	0.66056	D	0.02	.	13.5221	0.61574	0.0:0.1583:0.8417:0.0	.	4526	Q07954	LRP1_HUMAN	K	4526	ENSP00000243077:E4526K	ENSP00000243077:E4526K	E	+	1	0	LRP1	55892546	1.000000	0.71417	0.965000	0.40720	0.991000	0.79684	7.467000	0.80930	1.130000	0.42092	0.491000	0.48974	GAG	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412772.2		+	ENST00000243077.3	Missense_Mutation	SNP	12 : 57606279 - 57606279 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	425	64
CACNA1D	776	broad.mit.edu	37	3	53837449	53837449	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53837449G>A	ENST00000422281.2	+	42	5363		c.e42-1		CACNA1D_ENST00000288139.4_Splice_Site|CACNA1D_ENST00000350061.5_Splice_Site|CACNA1D_ENST00000544977.1_Splice_Site	NM_001128839.1	NP_001122311.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	NA					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CCCAACTGCAGGTCCGACTCA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	109	109			NA	NA	3		NA											NA				53837449		2203	4300	6503	SO:0001630	splice_region_variant			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388	776	776		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2	NA	1664412	Standard	NM_000720	NM_000720	NA	Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000422281.2:c.5364-1G>A	3.37:g.53837449G>A		NA	Q13916|Q13931|Q9UDC3	37	CCDS46849.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056143	0.76074	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000544977	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1563	0.81670	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1D	53812489	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	8.308000	0.89966	2.318000	0.78349	0.637000	0.83480	.	CACNA1D-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350556.1	Intron	+	ENST00000422281.2	Splice_Site	SNP	3 : 53837449 - 53837449 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	732	149
MEGF8	1954	broad.mit.edu	37	19	42866638	42866638	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42866638C>T	ENST00000334370.4	+	33	6381	c.5746C>T	c.(5746-5748)Cga>Tga	p.R1916*	MEGF8_ENST00000251268.6_Nonsense_Mutation_p.R1983*	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1983	PSI 4.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GATCAACCAGCGAGAGGTCTT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	100	106			NA	NA	19		NA											NA				42866638		2203	4300	6503	SO:0001587	stop_gained			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429	1954	1954			3233	protein-coding gene	gene with protein product	HBV pre s2 binding protein 1	604267	EGF-like-domain, multiple 4, chromosome 19 open reading frame 49	EGFL4, C19orf49	NA	9693030	Standard	NM_001410	NM_001410	NA	Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000334370.4:c.5746C>T	19.37:g.42866638C>T	ENSP00000334219:p.Arg1916*	NA	A8KAY0|O75097	37	CCDS12604.2	.	.	.	.	.	.	.	.	.	.	C	48	14.208143	0.99784	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	.	.	.	5.43	3.27	0.37495	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7193	13.577	0.61879	0.2843:0.7157:0.0:0.0	.	.	.	.	X	1916;1983	.	ENSP00000251268:R1983X	R	+	1	2	MEGF8	47558478	1.000000	0.71417	0.999000	0.59377	0.065000	0.16274	2.282000	0.43461	0.658000	0.30925	-0.311000	0.09066	CGA	MEGF8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317695.1		+	ENST00000334370.4	Nonsense_Mutation	SNP	19 : 42866638 - 42866638 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	744	143
AKAP14	158798	broad.mit.edu	37	X	119054470	119054470	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119054470G>T	ENST00000371431.3	+	7	768		c.e7-1		AKAP14_ENST00000371425.4_Splice_Site|AKAP14_ENST00000491105.1_Splice_Site|AKAP14_ENST00000334356.2_Splice_Site|AKAP14_ENST00000371423.2_Splice_Site	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	NA						cytoplasm				endometrium(4)|large_intestine(1)|lung(8)	13						TTCCTTTGTAGACCAGGAATG	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	90	98			NA	NA	X		NA											NA				119054470		2203	4300	6503	SO:0001630	splice_region_variant			AF514780	CCDS14591.1, CCDS35376.1, CCDS35377.1	Xq24	2008-02-05			ENSG00000186471	ENSG00000186471	158798	158798		A-kinase anchor proteins	24061	protein-coding gene	gene with protein product		300462			NA	12475942	Standard	NM_178813	NM_178813	NA	Approved	AKAP28	uc004ese.3	Q86UN6	OTTHUMG00000022285	ENST00000371431.3:c.495-1G>T	X.37:g.119054470G>T		NA	Q86UN4|Q86UN5	37	CCDS14591.1	.	.	.	.	.	.	.	.	.	.	G	8.980	0.975120	0.18736	.	.	ENSG00000186471	ENST00000371431;ENST00000371423;ENST00000371425;ENST00000334356	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8915	0.79303	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AKAP14	118938498	1.000000	0.71417	0.975000	0.42487	0.075000	0.17131	5.568000	0.67385	2.136000	0.66102	0.513000	0.50165	.	AKAP14-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058078.1	Intron	+	ENST00000371431.3	Splice_Site	SNP	X : 119054470 - 119054470 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	190	48
CRYBG3	131544	broad.mit.edu	37	3	97596325	97596325	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97596325A>C	ENST00000182096.4	+	1	507	c.443A>C	c.(442-444)gAg>gCg	p.E148A		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3	NA										breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						AGCTCACAGGAGGACATTCTA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	87	88			NA	NA	3		NA											NA				97596325		1921	4132	6053	SO:0001583	missense					3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200	131544	131544			34427	protein-coding gene	gene with protein product					NA		Standard	NM_153605	NM_153605	NA	Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.443A>C	3.37:g.97596325A>C	ENSP00000182096:p.Glu148Ala	NA		37		.	.	.	.	.	.	.	.	.	.	A	21.8	4.201890	0.79127	.	.	ENSG00000080200	ENST00000182096	T	0.78924	-1.22	5.9	5.9	0.94986	.	0.093992	0.45606	D	0.000355	T	0.77438	0.4130	L	0.32530	0.975	0.80722	D	1	P	0.52316	0.952	P	0.51895	0.683	T	0.80346	-0.1421	10	0.87932	D	0	.	14.8985	0.70661	1.0:0.0:0.0:0.0	.	148	Q68DQ2	CRBG3_HUMAN	A	148	ENSP00000182096:E148A	ENSP00000182096:E148A	E	+	2	0	CRYBG3	99079015	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.660000	0.68018	2.266000	0.75297	0.528000	0.53228	GAG	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000353751.1		+	ENST00000182096.4	Missense_Mutation	SNP	3 : 97596325 - 97596325 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	499	97
TMEM261	90871	broad.mit.edu	37	9	7799610	7799610	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:7799610C>T	ENST00000358227.4	-	1	457	c.125G>A	c.(124-126)cGc>cAc	p.R42H	TMEM261_ENST00000484082.1_Intron	NM_033428.1	NP_219500.1			transmembrane protein 261	42											NA						CTTCAACAGGCGGTGTTCTGC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	39	37			NA	NA	9		NA											NA				7799610		2203	4300	6503	SO:0001583	missense			BC009510	CCDS34989.1	9p24.1	2014-02-21	2013-09-11	2013-09-11	ENSG00000137038	ENSG00000137038	90871	90871			30536	protein-coding gene	gene with protein product			chromosome 9 open reading frame 123	C9orf123	NA	21666724	Standard	NM_033428	NM_033428	NA	Approved	MGC4730	uc003zkj.3	Q96GE9	OTTHUMG00000019539	ENST00000358227.4:c.125G>A	9.37:g.7799610C>T	ENSP00000350961:p.Arg42His	NA		37	CCDS34989.1	.	.	.	.	.	.	.	.	.	.	c	12.13	1.844786	0.32606	.	.	ENSG00000137038	ENST00000358227	T	0.44881	0.91	5.34	-2.99	0.05497	.	2.017540	0.02346	N	0.075365	T	0.27098	0.0664	L	0.36672	1.1	0.09310	N	1	P;P	0.51791	0.899;0.948	B;B	0.36030	0.216;0.216	T	0.34925	-0.9809	10	0.34782	T	0.22	-28.4694	5.3663	0.16115	0.0676:0.415:0.1997:0.3176	.	42;42	Q96GE9-2;Q96GE9	.;CI123_HUMAN	H	42	ENSP00000350961:R42H	ENSP00000350961:R42H	R	-	2	0	C9orf123	7789610	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.195000	0.09546	-0.638000	0.05509	-2.040000	0.00418	CGC	TMEM261-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051705.1		-	ENST00000358227.4	Missense_Mutation	SNP	9 : 7799610 - 7799610 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	68
CBLN4	140689	broad.mit.edu	37	20	54579107	54579107	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54579107G>T	ENST00000064571.2	-	1	1421	c.121C>A	c.(121-123)Ctg>Atg	p.L41M		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	41						cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			CACACCACCAGACACTTGCCC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	46	47			NA	NA	20		NA											NA				54579107		2203	4300	6503	SO:0001583	missense			AY358527	CCDS13448.1	20q13	2004-08-19	2004-08-19	2004-08-19	ENSG00000054803	ENSG00000054803	140689	140689			16231	protein-coding gene	gene with protein product		615029	cerebellin precursor-like 1	CBLNL1	NA		Standard	NM_080617	NM_080617	NA	Approved	dJ885A10.1	uc002xxa.4	Q9NTU7	OTTHUMG00000032782	ENST00000064571.2:c.121C>A	20.37:g.54579107G>T	ENSP00000064571:p.Leu41Met	NA		37	CCDS13448.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250479	0.59212	.	.	ENSG00000054803	ENST00000064571	D	0.86230	-2.09	4.98	2.99	0.34606	.	0.000000	0.85682	D	0.000000	D	0.85656	0.5747	M	0.78456	2.415	0.58432	D	0.999996	B	0.32338	0.365	B	0.32090	0.14	D	0.84230	0.0466	10	0.40728	T	0.16	-14.5029	11.7116	0.51628	0.1514:0.0:0.8486:0.0	.	41	Q9NTU7	CBLN4_HUMAN	M	41	ENSP00000064571:L41M	ENSP00000064571:L41M	L	-	1	2	CBLN4	54012514	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	4.247000	0.58750	1.222000	0.43521	0.655000	0.94253	CTG	CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079783.2		-	ENST00000064571.2	Missense_Mutation	SNP	20 : 54579107 - 54579107 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	305	46
FZD1	8321	broad.mit.edu	37	7	90896026	90896026	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:90896026C>A	ENST00000287934.2	+	1	2244	c.1831C>A	c.(1831-1833)Ctg>Atg	p.L611M		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	611					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CCTTATGACGCTGATCGTGGG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	39	37			NA	NA	7		NA											NA				90896026		2203	4300	6503	SO:0001583	missense			AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240	8321	8321		GPCR / Class F : Frizzled receptors	4038	protein-coding gene	gene with protein product	Wnt receptor, frizzled, Drosophila, homolog of, 1	603408	frizzled (Drosophila) homolog 1, frizzled homolog 1 (Drosophila), frizzled 1, seven transmembrane spanning receptor, frizzled family receptor 1		NA	9813155	Standard	NM_003505	NM_003505	NA	Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1831C>A	7.37:g.90896026C>A	ENSP00000287934:p.Leu611Met	NA	A4D1E8|O94815|Q549T8	37	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.572397	0.45798	.	.	ENSG00000157240	ENST00000287934	D	0.86497	-2.13	4.91	4.03	0.46877	GPCR, family 2-like (1);	0.000000	0.51477	D	0.000100	D	0.85026	0.5603	L	0.56199	1.76	0.46222	D	0.998932	P	0.40638	0.725	P	0.48738	0.588	T	0.81125	-0.1075	10	0.30854	T	0.27	.	4.55	0.12107	0.0:0.716:0.0:0.284	.	611	Q9UP38	FZD1_HUMAN	M	611	ENSP00000287934:L611M	ENSP00000287934:L611M	L	+	1	2	FZD1	90733962	0.703000	0.27826	0.994000	0.49952	0.899000	0.52679	0.771000	0.26633	2.709000	0.92574	0.655000	0.94253	CTG	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059367.2		+	ENST00000287934.2	Missense_Mutation	SNP	7 : 90896026 - 90896026 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	394	74
BRPF1	7862	broad.mit.edu	37	3	9786068	9786068	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9786068T>G	ENST00000424362.1	+	9	3179	c.2775T>G	c.(2773-2775)agT>agG	p.S925R	BRPF1_ENST00000383829.2_Missense_Mutation_p.S932R|BRPF1_ENST00000433861.2_Intron|BRPF1_ENST00000302054.3_Missense_Mutation_p.S926R|BRPF1_ENST00000457855.1_Missense_Mutation_p.S926R			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	926	Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					ACGGAGGCAGTCCTGTGGGGC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	21	19			NA	NA	3		NA											NA				9786068		2200	4294	6494	SO:0001583	missense			M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983	7862	7862			14255	protein-coding gene	gene with protein product	peregrin, bromodomain-containing protein, 140kD	602410			NA	8946209, 7906940	Standard	NM_001003694	NM_001003694	NA	Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000424362.1:c.2775T>G	3.37:g.9786068T>G	ENSP00000398863:p.Ser925Arg	NA	B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	37		.	.	.	.	.	.	.	.	.	.	T	17.14	3.314121	0.60414	.	.	ENSG00000156983	ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T	0.18174	2.23;3.62;2.23;2.23	5.85	2.14	0.27477	.	0.085141	0.85682	D	0.000000	T	0.22244	0.0536	L	0.59436	1.845	0.58432	D	0.999994	D;D;P	0.57899	0.981;0.981;0.818	P;P;B	0.54026	0.74;0.74;0.331	T	0.08166	-1.0735	10	0.19590	T	0.45	.	6.4094	0.21682	0.0:0.5401:0.0:0.4599	.	925;932;926	P55201-3;P55201-2;P55201	.;.;BRPF1_HUMAN	R	925;932;926;926	ENSP00000398863:S925R;ENSP00000373340:S932R;ENSP00000306297:S926R;ENSP00000410210:S926R	ENSP00000306297:S926R	S	+	3	2	BRPF1	9761068	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.545000	0.23268	0.460000	0.27045	0.459000	0.35465	AGT	BRPF1-003	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000338484.1		+	ENST00000424362.1	Missense_Mutation	SNP	3 : 9786068 - 9786068 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	207	44
PPP1R3D	5509	broad.mit.edu	37	20	58514512	58514512	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58514512A>C	ENST00000370996.3	-	1	840	c.475T>G	c.(475-477)Ttc>Gtc	p.F159V	FAM217B_ENST00000358293.3_Intron	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	159					glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			GGCGGCGGGAAATCGGGCACC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	20	19			NA	NA	20		NA											NA				58514512		2173	4247	6420	SO:0001583	missense			Y18206	CCDS13483.1	20q13.3	2012-04-17	2011-10-04	2001-08-01	ENSG00000132825	ENSG00000132825	5509	5509		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	9294	protein-coding gene	gene with protein product		603326	protein phosphatase 1, regulatory (inhibitor) subunit 3D	PPP1R6	NA	9414128, 9275233	Standard	NM_006242	NM_006242	NA	Approved		uc002ybb.3	O95685	OTTHUMG00000032876	ENST00000370996.3:c.475T>G	20.37:g.58514512A>C	ENSP00000360035:p.Phe159Val	NA	Q6DK02	37	CCDS13483.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.951431	0.92660	.	.	ENSG00000132825	ENST00000370996	T	0.65916	-0.18	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000003	T	0.78610	0.4310	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.81342	-0.0976	10	0.66056	D	0.02	-19.8349	14.9744	0.71261	1.0:0.0:0.0:0.0	.	159	O95685	PPR3D_HUMAN	V	159	ENSP00000360035:F159V	ENSP00000360035:F159V	F	-	1	0	PPP1R3D	57947907	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	9.064000	0.93933	1.941000	0.56285	0.379000	0.24179	TTC	PPP1R3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079940.2		-	ENST00000370996.3	Missense_Mutation	SNP	20 : 58514512 - 58514512 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	222	48
SGK223	0	broad.mit.edu	37	8	8175725	8175725	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:8175725G>A	ENST00000520004.1	-	6	4424	c.4160C>T	c.(4159-4161)gCg>gTg	p.A1387V	SGK223_ENST00000330777.4_Missense_Mutation_p.A1387V			Q86YV5	SG223_HUMAN		1387							ATP binding|non-membrane spanning protein tyrosine kinase activity				NA						CCCGGGCTCCGCAGACGCCAG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(34;731 755 10259 33573 33867)							NA				0													37	46	43			NA	NA	8		NA											NA				8175725		2019	4175	6194	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000520004.1:c.4160C>T	8.37:g.8175725G>A	ENSP00000428054:p.Ala1387Val	NA	Q8N3N5	37	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190369	0.78789	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.14516	2.5;2.5	5.48	5.48	0.80851	.	0.054657	0.64402	D	0.000001	T	0.34948	0.0915	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.01613	-1.1312	10	0.87932	D	0	.	18.7301	0.91731	0.0:0.0:1.0:0.0	.	1387	Q86YV5	SG223_HUMAN	V	1387	ENSP00000330930:A1387V;ENSP00000428054:A1387V	ENSP00000330930:A1387V	A	-	2	0	AC068353.1	8213135	1.000000	0.71417	0.163000	0.22734	0.480000	0.33159	9.825000	0.99386	2.748000	0.94277	0.462000	0.41574	GCG	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374864.1		-	ENST00000520004.1	Missense_Mutation	SNP	8 : 8175725 - 8175725 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	472	94
CACNA1S	779	broad.mit.edu	37	1	201052427	201052427	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201052427C>T	ENST00000362061.3	-	10	1482	c.1256G>A	c.(1255-1257)cGc>cAc	p.R419H	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R419H	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	419					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCGAAAGATGCGGTTCCACTG	0.542		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	198	162	174		1256	4.6	1	1		174	1,8599	1.2+/-3.3	0,1,4299	no	missense	CACNA1S	NM_000069.2	29	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	419/1874	201052427	1,13005	2203	4300	6503	SO:0001583	missense			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248	779	779		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3	NA	7916735, 16382099	Standard	NM_000069	NM_000069	NA	Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1256G>A	1.37:g.201052427C>T	ENSP00000355192:p.Arg419His	NA	A4IF51|B1ALM2|Q12896|Q13934	37	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000816	0.74818	0.0	1.16E-4	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96913	-4.17;-4.08	4.59	4.59	0.56863	.	0.105688	0.64402	D	0.000003	D	0.97907	0.9312	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.66847	0.947	D	0.98438	1.0585	10	0.54805	T	0.06	.	17.7262	0.88366	0.0:1.0:0.0:0.0	.	419	Q13698	CAC1S_HUMAN	H	419	ENSP00000355192:R419H;ENSP00000356307:R419H	ENSP00000355192:R419H	R	-	2	0	CACNA1S	199319050	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	7.694000	0.84235	2.232000	0.73038	0.643000	0.83706	CGC	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087049.1		-	ENST00000362061.3	Missense_Mutation	SNP	1 : 201052427 - 201052427 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	731	102
OR51V1	283111	broad.mit.edu	37	11	5221325	5221325	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5221325T>C	ENST00000321255.1	-	1	605	c.606A>G	c.(604-606)cgA>cgG	p.R202R		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACTATTGAATCGGATGTCTG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	55	56			NA	NA	11		NA											NA				5221325		2201	4298	6499	SO:0001819	synonymous_variant			BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742	283111	283111		GPCR / Class A : Olfactory receptors	19597	protein-coding gene	gene with protein product				OR51A12	NA		Standard	NM_001004760	NM_001004760	NA	Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.606A>G	11.37:g.5221325T>C		NA		37	CCDS31375.1																																																																																			OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000142965.1		-	ENST00000321255.1	Silent	SNP	11 : 5221325 - 5221325 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	397	18
IL33	90865	broad.mit.edu	37	9	6250583	6250583	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6250583G>A	ENST00000381434.3	+	2	214	c.201G>A	c.(199-201)agG>agA	p.R67R	IL33_ENST00000456383.2_Silent_p.R67R|IL33_ENST00000417746.2_Intron	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	67					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		CCACCAAAAGGCCTTCACTGA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	84	85			NA	NA	9		NA											NA				6250583		2203	4300	6503	SO:0001819	synonymous_variant			AB024518	CCDS6468.1, CCDS56563.1, CCDS56564.1	9p24.1	2014-01-28	2006-11-20	2006-11-20	ENSG00000137033	ENSG00000137033	90865	90865		Interleukins and interleukin receptors	16028	protein-coding gene	gene with protein product	DVS27-related protein, nuclear factor for high endothelial venules, interleukin-1 family, member 11	608678	chromosome 9 open reading frame 26 (NF-HEV)	C9orf26	NA	10566975, 12819012	Standard	NM_033439	NM_033439	NA	Approved	DVS27, DKFZp586H0523, NF-HEV, IL1F11	uc003zjt.3	O95760	OTTHUMG00000019516	ENST00000381434.3:c.201G>A	9.37:g.6250583G>A		NA	D3DRI5|Q2YEJ5	37	CCDS6468.1																																																																																			IL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051655.1		+	ENST00000381434.3	Silent	SNP	9 : 6250583 - 6250583 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	76
TRAPPC9	83696	broad.mit.edu	37	8	141381095	141381095	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141381095C>A	ENST00000389328.4	-	8	1627	c.1613G>T	c.(1612-1614)aGt>aTt	p.S538I	TRAPPC9_ENST00000438773.2_Missense_Mutation_p.S440I|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.S431I	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	440					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CAGCGACAGACTGTAGCCGGG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	81	81			NA	NA	8		NA											NA				141381095		2203	4300	6503	SO:0001583	missense			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632	83696	83696		Trafficking protein particle complex	30832	protein-coding gene	gene with protein product	TRAPP 120 kDa subunit, tularik gene 1	611966			NA	11572484	Standard	NM_031466	NM_031466	NA	Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000389328.4:c.1613G>T	8.37:g.141381095C>A	ENSP00000373979:p.Ser538Ile	NA	Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	37	CCDS34946.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.150767|4.150767	0.78001|0.78001	.|.	.|.	ENSG00000167632|ENSG00000167632	ENST00000520857|ENST00000389328;ENST00000389327;ENST00000438773	.|.	.|.	.|.	5.5|5.5	4.62|4.62	0.57501|0.57501	.|.	.|0.077470	.|0.85682	.|D	.|0.000000	T|T	0.64148|0.64148	0.2572|0.2572	L|L	0.34521|0.34521	1.04|1.04	0.48087|0.48087	D|D	0.999587|0.999587	.|D;P;D	.|0.71674	.|0.998;0.887;0.996	.|D;P;P	.|0.65773	.|0.938;0.668;0.878	T|T	0.64947|0.64947	-0.6287|-0.6287	5|9	.|0.46703	.|T	.|0.11	.|.	14.0622|14.0622	0.64806|0.64806	0.151:0.849:0.0:0.0|0.151:0.849:0.0:0.0	.|.	.|440;431;538	.|Q96Q05;Q96Q05-3;Q96Q05-2	.|TPPC9_HUMAN;.;.	H|I	283|538;431;440	.|.	.|ENSP00000373978:S431I	Q|S	-|-	3|2	2|0	TRAPPC9|TRAPPC9	141450277|141450277	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.731000|0.731000	0.41821|0.41821	7.433000|7.433000	0.80362|0.80362	1.310000|1.310000	0.45006|0.45006	0.455000|0.455000	0.32223|0.32223	CAG|AGT	TRAPPC9-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377711.3		-	ENST00000389328.4	Missense_Mutation	SNP	8 : 141381095 - 141381095 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	618	110
DISP1	84976	broad.mit.edu	37	1	223176548	223176548	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223176548C>T	ENST00000284476.6	+	8	1973	c.1809C>T	c.(1807-1809)caC>caT	p.H603H		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	603	SSD.				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CCTTGCAGCACGCTGCCCTCT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	147	152			NA	NA	1		NA											NA				223176548		2203	4300	6503	SO:0001819	synonymous_variant			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309	84976	84976			19711	protein-coding gene	gene with protein product		607502			NA	10619433	Standard	NM_032890	NM_032890	NA	Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1809C>T	1.37:g.223176548C>T		NA	Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	37	CCDS1536.1																																																																																			DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092512.1		+	ENST00000284476.6	Silent	SNP	1 : 223176548 - 223176548 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	621	60
ARSK	153642	broad.mit.edu	37	5	94901721	94901721	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:94901721A>G	ENST00000380009.4	+	2	351	c.146A>G	c.(145-147)cAt>cGt	p.H49R		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	49						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TTAACATTTCATCCAGGAAGT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	66	68			NA	NA	5		NA											NA				94901721		2203	4300	6503	SO:0001583	missense				CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291	153642	153642		Arylsulfatase family	25239	protein-coding gene	gene with protein product		610011	arylsulfatase K		NA	12975309, 16174644	Standard	NM_198150	NM_198150	NA	Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.146A>G	5.37:g.94901721A>G	ENSP00000369346:p.His49Arg	NA	A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	37	CCDS4073.1	.	.	.	.	.	.	.	.	.	.	A	10.71	1.426397	0.25726	.	.	ENSG00000164291	ENST00000380009;ENST00000537857	D	0.99887	-7.53	6.17	5.0	0.66597	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.399540	0.29638	N	0.011585	D	0.99052	0.9675	N	0.25647	0.755	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	D	0.99984	1.3018	10	0.25751	T	0.34	-5.2358	7.7932	0.29133	0.6385:0.1248:0.0:0.2367	.	49	Q6UWY0	ARSK_HUMAN	R	49	ENSP00000369346:H49R	ENSP00000369346:H49R	H	+	2	0	ARSK	94927477	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.829000	0.55760	1.130000	0.42092	0.533000	0.62120	CAT	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000241652.2		+	ENST00000380009.4	Missense_Mutation	SNP	5 : 94901721 - 94901721 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	138	32
VWA7	80737	broad.mit.edu	37	6	31734988	31734988	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31734988G>A	ENST00000375688.4	-	13	2029	c.1829C>T	c.(1828-1830)cCc>cTc	p.P610L	VWA7_ENST00000447450.1_Missense_Mutation_p.P610L|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375686.3_Missense_Mutation_p.P610L			Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	610						extracellular region					NA						ATCCTCCATGGGGATCCCAAA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	28	29			NA	NA	6		NA											NA				31734988		2203	4299	6502	SO:0001583	missense				CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396	80737	80737			13939	protein-coding gene	gene with protein product		609693	chromosome 6 open reading frame 27	C6orf27	NA		Standard	NM_025258	NM_025258	NA	Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.1829C>T	6.37:g.31734988G>A	ENSP00000364840:p.Pro610Leu	NA	A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	37	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	G	15.28	2.787692	0.49997	.	.	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	T;T;T	0.30981	2.72;2.5;1.51	5.74	5.74	0.90152	.	0.133595	0.50627	D	0.000118	T	0.14141	0.0342	L	0.34521	1.04	0.09310	N	0.999998	B	0.25609	0.13	B	0.27715	0.082	T	0.05784	-1.0864	10	0.51188	T	0.08	-11.2464	15.4883	0.75584	0.0:0.0:1.0:0.0	.	610	Q9Y334	G7C_HUMAN	L	610	ENSP00000364840:P610L;ENSP00000364838:P610L;ENSP00000390554:P610L	ENSP00000364838:P610L	P	-	2	0	C6orf27	31842967	0.609000	0.26975	0.046000	0.18839	0.915000	0.54546	4.425000	0.59875	2.722000	0.93159	0.555000	0.69702	CCC	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076233.2		-	ENST00000375688.4	Missense_Mutation	SNP	6 : 31734988 - 31734988 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	90	21
ADH1A	124	broad.mit.edu	37	4	100205930	100205930	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100205930T>C	ENST00000209668.2	-	4	403	c.290A>G	c.(289-291)cAg>cGg	p.Q97R	RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	97					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	TTTTCCACACTGAGGAATAGC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	92	94			NA	NA	4		NA											NA				100205930		2203	4300	6503	SO:0001583	missense			M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	124	124	1.1.1.1	Alcohol dehydrogenases	249	protein-coding gene	gene with protein product		103700		ADH1	NA	3006456	Standard	NM_000667	NM_000667	NA	Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.290A>G	4.37:g.100205930T>C	ENSP00000209668:p.Gln97Arg	NA	A8K3E3|Q17R68	37	CCDS3648.1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.023259	0.54683	.	.	ENSG00000187758	ENST00000209668	T	0.04758	3.56	3.51	3.51	0.40186	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.15089	0.0364	L	0.52206	1.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00670	-1.1617	10	0.87932	D	0	-18.8157	12.3143	0.54946	0.0:0.0:0.0:1.0	.	97	P07327	ADH1A_HUMAN	R	97	ENSP00000209668:Q97R	ENSP00000209668:Q97R	Q	-	2	0	ADH1A	100424953	1.000000	0.71417	0.981000	0.43875	0.348000	0.29142	5.514000	0.67043	1.354000	0.45846	0.377000	0.23210	CAG	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253669.1		-	ENST00000209668.2	Missense_Mutation	SNP	4 : 100205930 - 100205930 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	280	10
RASAL1	8437	broad.mit.edu	37	12	113553024	113553024	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113553024G>A	ENST00000546530.1	-	12	1334	c.1049C>T	c.(1048-1050)tCg>tTg	p.S350L	RASAL1_ENST00000446861.3_Missense_Mutation_p.S350L|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.S350L|RASAL1_ENST00000261729.5_Missense_Mutation_p.S350L	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	350	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CTGTTCCATCGACTTGGATGC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													200	199	200			NA	NA	12		NA											NA				113553024		2203	4300	6503	SO:0001583	missense			AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344	8437	8437		Pleckstrin homology (PH) domain containing	9873	protein-coding gene	gene with protein product		604118			NA	9751798	Standard	NM_004658	NM_001193520	NA	Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000546530.1:c.1049C>T	12.37:g.113553024G>A	ENSP00000450244:p.Ser350Leu	NA	C9JFK5|Q52M03|Q96CC7	37	CCDS55889.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029248	0.93518	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	4.78	4.78	0.61160	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.192965	0.46442	D	0.000297	T	0.79975	0.4539	L	0.37750	1.13	0.44745	D	0.997741	P;P;P;P;P;D;P	0.60160	0.953;0.889;0.942;0.953;0.873;0.987;0.942	P;P;B;P;B;P;B	0.56700	0.557;0.653;0.422;0.557;0.404;0.804;0.422	T	0.81673	-0.0826	10	0.52906	T	0.07	.	16.5796	0.84711	0.0:0.0:1.0:0.0	.	350;350;350;362;350;350;350	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	L	350	ENSP00000450244:S350L;ENSP00000261729:S350L;ENSP00000395920:S350L;ENSP00000448510:S350L	ENSP00000261729:S350L	S	-	2	0	RASAL1	112037407	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	7.312000	0.78968	2.205000	0.71048	0.491000	0.48974	TCG	RASAL1-008	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405528.1		-	ENST00000546530.1	Missense_Mutation	SNP	12 : 113553024 - 113553024 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1066	170
HLA-DPA1	3113	broad.mit.edu	37	6	33037542	33037542	+	Missense_Mutation	SNP	C	C	A	rs72558171		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33037542C>A	ENST00000419277.1	-	3	351	c.222G>T	c.(220-222)tgG>tgT	p.W74C	HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.W74C|HLA-DPA1_ENST00000463066.1_5'UTR	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	74	Alpha-1.		W -> C (in allele DPA1*01:10; dbSNP:rs72558171).		antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						CCTCCAGATGCCAGACGGTCT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	93	87			NA	NA	6		NA											NA				33037542		1511	2708	4219	SO:0001583	missense			X00457	CCDS4764.1	6p21.3	2013-01-11			ENSG00000231389	ENSG00000231389	3113	3113		Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing	4938	protein-coding gene	gene with protein product		142880		HLA-DP1A	NA	6584734	Standard	NM_033554	NM_033554	NA	Approved		uc003ocs.2	P20036	OTTHUMG00000031058	ENST00000419277.1:c.222G>T	6.37:g.33037542C>A	ENSP00000393566:p.Trp74Cys	NA	A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10	37	CCDS4764.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314656	0.40996	.	.	ENSG00000231389	ENST00000419277;ENST00000428995;ENST00000448544;ENST00000453337	T;T;T	0.00932	5.53;5.53;5.53	3.0	3.0	0.34707	MHC class II, alpha/beta chain, N-terminal (1);MHC classes I/II-like antigen recognition protein (1);MHC class II, alpha chain, N-terminal (2);	0.729808	0.12564	U	0.457926	T	0.05135	0.0137	H	0.95470	3.675	0.53688	D	0.999976	D	0.89917	1.0	D	0.97110	1.0	T	0.01587	-1.1318	10	0.87932	D	0	.	12.1984	0.54311	0.0:1.0:0.0:0.0	.	74	P20036	DPA1_HUMAN	C	74	ENSP00000393566:W74C;ENSP00000402872:W74C;ENSP00000390929:W74C	ENSP00000393566:W74C	W	-	3	0	HLA-DPA1	33145520	0.992000	0.36948	0.319000	0.25293	0.688000	0.40055	2.553000	0.45837	1.601000	0.50113	0.643000	0.83706	TGG	HLA-DPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076071.3		-	ENST00000419277.1	Missense_Mutation	SNP	6 : 33037542 - 33037542 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	342	74
SLC14A2	8170	broad.mit.edu	37	18	43224100	43224100	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43224100C>T	ENST00000255226.6	+	10	2142	c.1326C>T	c.(1324-1326)agC>agT	p.S442S	SLC14A2_ENST00000586448.1_Silent_p.S442S	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	442						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGTGAAAAGCGGTGAAGAAG	0.547		NA											C	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	4e-04	0.95	EXOME	NA	NA	3e-04	SNP								NA				0													134	131	132			NA	NA	18		NA											NA				43224100		2203	4300	6503	SO:0001819	synonymous_variant			X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874	8170	8170		Solute carriers	10919	protein-coding gene	gene with protein product		601611			NA	8647271	Standard		NM_007163	NA	Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1326C>T	18.37:g.43224100C>T		NA	A8K8Q7|Q2TBD6|Q96PH5	37	CCDS11924.1																																																																																			SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255858.1		+	ENST00000255226.6	Silent	SNP	18 : 43224100 - 43224100 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	693	111
SGCE	8910	broad.mit.edu	37	7	94228093	94228093	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94228093G>A	ENST00000415788.2	-	10	1442	c.1355C>T	c.(1354-1356)aCg>aTg	p.T452M	SGCE_ENST00000265735.7_Missense_Mutation_p.T416M|SGCE_ENST00000447873.1_Missense_Mutation_p.T407M|SGCE_ENST00000445866.2_Missense_Mutation_p.T416M|SGCE_ENST00000428696.2_Missense_Mutation_p.T407M|SGCE_ENST00000437425.2_Missense_Mutation_p.T375M			O43556	SGCE_HUMAN	sarcoglycan, epsilon	416					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TTACTGCTGCGTTTGCATCAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													202	184	190			NA	NA	7		NA											NA				94228093		2203	4300	6503	SO:0001583	missense			AF036364	CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1	7q21.3	2014-09-17			ENSG00000127990	ENSG00000127990	8910	8910			10808	protein-coding gene	gene with protein product		604149		DYT11	NA	9475163, 9405466	Standard		NM_001099401	NA	Approved		uc003unn.2	O43556	OTTHUMG00000022828	ENST00000415788.2:c.1355C>T	7.37:g.94228093G>A	ENSP00000405313:p.Thr452Met	NA	B2R8N2|D6W5Q8|Q75MH8|Q8NFG8|Q8WW28	37		.	.	.	.	.	.	.	.	.	.	G	21.4	4.148267	0.78001	.	.	ENSG00000127990	ENST00000265735;ENST00000445866;ENST00000437425;ENST00000447873;ENST00000428696;ENST00000415788	D;D;D;D;D;D	0.97710	-4.5;-4.5;-4.5;-4.5;-4.5;-4.5	5.21	5.21	0.72293	.	0.045801	0.85682	D	0.000000	D	0.98055	0.9359	L	0.44542	1.39	0.58432	D	0.999996	D;D;D;P;P;D	0.89917	1.0;1.0;0.998;0.916;0.919;0.997	D;D;P;P;P;D	0.91635	0.999;0.971;0.88;0.616;0.714;0.91	D	0.99246	1.0886	10	0.62326	D	0.03	-20.0409	19.1279	0.93393	0.0:0.0:1.0:0.0	.	452;375;407;416;416;407	B7Z2R4;E9PEH6;E9PF60;G5E9K6;O43556;C9JR67	.;.;.;.;SGCE_HUMAN;.	M	416;416;375;407;407;452	ENSP00000265735:T416M;ENSP00000398930:T416M;ENSP00000394061:T375M;ENSP00000388734:T407M;ENSP00000397536:T407M;ENSP00000405313:T452M	ENSP00000265735:T416M	T	-	2	0	SGCE	94066029	1.000000	0.71417	0.857000	0.33713	0.893000	0.52053	9.297000	0.96120	2.608000	0.88229	0.650000	0.86243	ACG	SGCE-008	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000340761.2		-	ENST00000415788.2	Missense_Mutation	SNP	7 : 94228093 - 94228093 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	718	145
TTN	7273	broad.mit.edu	37	2	179647624	179647624	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179647624G>T	ENST00000589042.1	-	18	3233	c.3009C>A	c.(3007-3009)cgC>cgA	p.R1003R	TTN_ENST00000591111.1_Silent_p.R1003R|TTN_ENST00000359218.5_Silent_p.R957R|TTN_ENST00000460472.2_Silent_p.R957R|TTN_ENST00000342992.6_Silent_p.R1003R|TTN_ENST00000342175.6_Silent_p.R957R|TTN_ENST00000360870.5_Silent_p.R1003R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1003	Ig-like 3.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAATGCTTCGCGAATCATAA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	92	94			NA	NA	2		NA											NA				179647624		2203	4300	6503	SO:0001819	synonymous_variant			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.3009C>A	2.37:g.179647624G>T		NA	E7ET18	37	CCDS59435.1																																																																																			TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Silent	SNP	2 : 179647624 - 179647624 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	439	30
UBQLN3	50613	broad.mit.edu	37	11	5530259	5530259	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5530259A>T	ENST00000311659.4	-	2	677	c.530T>A	c.(529-531)aTc>aAc	p.I177N	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	177										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGACCCGGGATGAAGGGGTC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(72;684 1260 12332 41642 52180)							NA				0													71	70	70			NA	NA	11		NA											NA				5530259		2201	4297	6498	SO:0001583	missense			AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520	50613	50613		Ubiquilin family	12510	protein-coding gene	gene with protein product		605473			NA	10831842	Standard	NM_017481	NM_017481	NA	Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.530T>A	11.37:g.5530259A>T	ENSP00000347997:p.Ile177Asn	NA	Q9NRE0	37	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.115612	0.77323	.	.	ENSG00000175520	ENST00000311659;ENST00000445998	T;T	0.54279	1.13;0.58	5.55	5.55	0.83447	.	0.000000	0.48286	D	0.000187	T	0.70789	0.3264	M	0.87682	2.9	0.47862	D	0.999531	D	0.54397	0.966	P	0.55667	0.781	T	0.77236	-0.2662	10	0.87932	D	0	-9.9209	13.9369	0.64029	1.0:0.0:0.0:0.0	.	177	Q9H347	UBQL3_HUMAN	N	177	ENSP00000347997:I177N;ENSP00000412561:I177N	ENSP00000347997:I177N	I	-	2	0	UBQLN3	5486835	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.344000	0.59354	2.238000	0.73509	0.477000	0.44152	ATC	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000143348.1		-	ENST00000311659.4	Missense_Mutation	SNP	11 : 5530259 - 5530259 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	444	65
C8orf34	116328	broad.mit.edu	37	8	69445334	69445334	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:69445334C>A	ENST00000337103.4	+	6	2314	c.722C>A	c.(721-723)tCt>tAt	p.S241Y	C8orf34_ENST00000348340.2_Missense_Mutation_p.S266Y|C8orf34_ENST00000518698.1_Missense_Mutation_p.S352Y|C8orf34_ENST00000539993.1_Missense_Mutation_p.S266Y			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	266					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CCTACCCCATCTGTAACAGAA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	112	113			NA	NA	8		NA											NA				69445334		2203	4299	6502	SO:0001583	missense			AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084	116328	116328			30905	protein-coding gene	gene with protein product	vestibule 1				NA		Standard	NM_052958	NM_052958	NA	Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000337103.4:c.722C>A	8.37:g.69445334C>A	ENSP00000337174:p.Ser241Tyr	NA	A8K5X1|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	37		.	.	.	.	.	.	.	.	.	.	C	12.65	2.001855	0.35320	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000348340;ENST00000337103	T;T;T	0.54279	0.58;0.62;0.6	5.54	3.76	0.43208	.	0.237331	0.44902	D	0.000405	T	0.62514	0.2434	L	0.60455	1.87	0.34619	D	0.718399	B;D	0.63880	0.156;0.993	B;P	0.59487	0.106;0.858	T	0.71196	-0.4664	9	.	.	.	-3.4848	11.9284	0.52833	0.0:0.8589:0.0:0.1411	.	266;266	Q49A92;Q49A92-3	CH034_HUMAN;.	Y	352;266;266;241	ENSP00000427820:S352Y;ENSP00000438159:S266Y;ENSP00000337174:S241Y	.	S	+	2	0	C8orf34	69607888	1.000000	0.71417	0.949000	0.38748	0.758000	0.43043	5.291000	0.65667	0.721000	0.32231	-0.229000	0.12294	TCT	C8orf34-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000378768.1		+	ENST00000337103.4	Missense_Mutation	SNP	8 : 69445334 - 69445334 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	677	119
HMCN1	83872	broad.mit.edu	37	1	186052023	186052023	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186052023C>T	ENST00000271588.4	+	57	9043	c.8814C>T	c.(8812-8814)atC>atT	p.I2938I	HMCN1_ENST00000367492.2_Silent_p.I2938I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2938	Ig-like C2-type 27.				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						TAACAGATATCGGCAGGTATG	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	58	56			NA	NA	1		NA											NA				186052023		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.8814C>T	1.37:g.186052023C>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 : 186052023 - 186052023 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	277	35
CHAT	1103	broad.mit.edu	37	10	50835752	50835752	+	Silent	SNP	C	C	T	rs145203976	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50835752C>T	ENST00000337653.2	+	7	1185	c.1032C>T	c.(1030-1032)gaC>gaT	p.D344D	CHAT_ENST00000351556.3_Silent_p.D226D|CHAT_ENST00000339797.1_Silent_p.D226D|CHAT_ENST00000395562.2_Silent_p.D262D|CHAT_ENST00000395559.2_Silent_p.D226D|CHAT_ENST00000455728.2_Silent_p.D226D	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	344					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CCAACGAGGACGAGCGTTTGC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,,,,,	1,4405	2.1+/-5.4	0,1,2202	145	121	129		678,786,678,1032,678,678,678	-8.2	0.6	10	dbSNP_134	129	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CHAT	NM_001142929.1,NM_001142933.1,NM_001142934.1,NM_020549.4,NM_020984.3,NM_020985.3,NM_020986.3	,,,,,,	0,4,6499	TT,TC,CC	NA	0.0349,0.0227,0.0308	,,,,,,	226/631,262/667,226/631,344/749,226/631,226/631,226/631	50835752	4,13002	2203	4300	6503	SO:0001819	synonymous_variant			AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	1103	1103	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	choline acetyltransferase		NA	1840566	Standard	NM_020549	NM_020984	NA	Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1032C>T	10.37:g.50835752C>T		NA	A2BDF4|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	37	CCDS7232.1																																																																																			CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047997.1		+	ENST00000337653.2	Silent	SNP	10 : 50835752 - 50835752 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	701	137
CYP2B6	1555	broad.mit.edu	37	19	41509926	41509926	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41509926C>T	ENST00000324071.4	+	2	199	c.192C>T	c.(190-192)gaC>gaT	p.D64D	CYP2B6_ENST00000593831.1_5'UTR|CYP2B6_ENST00000330446.5_Silent_p.D24D|CYP2B6_ENST00000598834.1_3'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	64					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	AATATGGGGACGTCTTCACGG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	49	49			NA	NA	19		NA											NA				41509926		2203	4296	6499	SO:0001819	synonymous_variant			AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408	1555	1555		Cytochrome P450s	2615	protein-coding gene	gene with protein product		123930	cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6, cytochrome P450, family 2, subfamily B, cytochrome P450, subfamily IIB (phenobarbital-inducible)	CYP2B	NA	7668294, 15128046	Standard	NM_000767	NM_000767	NA	Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.192C>T	19.37:g.41509926C>T		NA	Q2V565|Q9UK46	37	CCDS12570.1																																																																																			CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463260.1		+	ENST00000324071.4	Silent	SNP	19 : 41509926 - 41509926 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	319	58
SPTBN2	6712	broad.mit.edu	37	11	66460174	66460174	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66460174G>A	ENST00000533211.1	-	26	5354	c.5023C>T	c.(5023-5025)Ctg>Ttg	p.L1675L	SPTBN2_ENST00000309996.2_Silent_p.L1675L|SPTBN2_ENST00000529997.1_Silent_p.L1675L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1675					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCGGCATACAGCTTGTCCACC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	33	36			NA	NA	11		NA											NA				66460174		2200	4293	6493	SO:0001819	synonymous_variant			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898	6712	6712		Pleckstrin homology (PH) domain containing	11276	protein-coding gene	gene with protein product		604985	spinocerebellar ataxia 5	SCA5	NA	9826670, 16429157	Standard	NM_006946	NM_006946	NA	Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.5023C>T	11.37:g.66460174G>A		NA	O14872|O14873	37	CCDS8150.1																																																																																			SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393892.2		-	ENST00000533211.1	Silent	SNP	11 : 66460174 - 66460174 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	57
TC2N	123036	broad.mit.edu	37	14	92280104	92280104	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92280104C>T	ENST00000435962.2	-	2	333	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	TC2N_ENST00000360594.5_Missense_Mutation_p.E4K|TC2N_ENST00000556018.1_Missense_Mutation_p.E4K|TC2N_ENST00000340892.5_Missense_Mutation_p.E4K	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	4						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TTTATAAATTCTGTTGCCATT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	60	61			NA	NA	14		NA											NA				92280104		2202	4298	6500	SO:0001583	missense			AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929	123036	123036			19859	protein-coding gene	gene with protein product	C2 calcium-dependent domain containing 1		chromosome 14 open reading frame 47, membrane targeting (tandem) C2 domain containing 1	C14orf47, MTAC2D1	NA	11526914	Standard	NM_152332	NM_001128596	NA	Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.10G>A	14.37:g.92280104C>T	ENSP00000387882:p.Glu4Lys	NA		37	CCDS9897.1	.	.	.	.	.	.	.	.	.	.	C	31	5.102708	0.94245	.	.	ENSG00000165929	ENST00000435962;ENST00000340892;ENST00000360594;ENST00000556018	T;T;T;T	0.20598	3.03;3.03;3.03;2.06	6.17	6.17	0.99709	.	0.105362	0.64402	D	0.000007	T	0.32164	0.0820	M	0.64997	1.995	0.53688	D	0.999979	P;B	0.43231	0.801;0.297	B;B	0.42361	0.385;0.172	T	0.02632	-1.1131	10	0.87932	D	0	-19.9146	20.8794	0.99867	0.0:1.0:0.0:0.0	.	4;4	Q8N9U0-2;Q8N9U0	.;TAC2N_HUMAN	K	4	ENSP00000387882:E4K;ENSP00000343199:E4K;ENSP00000353802:E4K;ENSP00000451317:E4K	ENSP00000343199:E4K	E	-	1	0	TC2N	91349857	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.099000	0.64554	2.941000	0.99782	0.655000	0.94253	GAA	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411778.1		-	ENST00000435962.2	Missense_Mutation	SNP	14 : 92280104 - 92280104 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	124	15
ULK1	8408	broad.mit.edu	37	12	132394520	132394520	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132394520G>A	ENST00000321867.4	+	10	1133	c.782G>A	c.(781-783)cGc>cAc	p.R261H		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	261	Protein kinase.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CTACTGCAACGCAACCACAAG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	0,4406		0,0,2203	34	45	41		782	5.3	0.9	12		41	1,8595	1.2+/-3.3	0,1,4297	no	missense	ULK1	NM_003565.2	29	0,1,6500	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	261/1051	132394520	1,13001	2203	4298	6501	SO:0001583	missense			AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169	8408	8408			12558	protein-coding gene	gene with protein product	ATG1 autophagy related 1 homolog (S. cerevisiae)	603168	unc-51 (C. elegans)-like kinase 1, unc-51-like kinase 1 (C. elegans)		NA	9693035	Standard		NM_003565	NA	Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.782G>A	12.37:g.132394520G>A	ENSP00000324560:p.Arg261His	NA	Q9UQ28	37	CCDS9274.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.381883	0.82792	0.0	1.16E-4	ENSG00000177169	ENST00000321867;ENST00000537421	T;T	0.25250	1.81;1.81	5.29	5.29	0.74685	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.46521	0.1397	L	0.46670	1.46	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.42481	-0.9449	10	0.87932	D	0	-37.8696	17.7077	0.88313	0.0:0.0:1.0:0.0	.	261	O75385	ULK1_HUMAN	H	261;178	ENSP00000324560:R261H;ENSP00000438953:R178H	ENSP00000324560:R261H	R	+	2	0	ULK1	130960473	1.000000	0.71417	0.943000	0.38184	0.142000	0.21351	4.701000	0.61810	2.474000	0.83562	0.313000	0.20887	CGC	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397769.3		+	ENST00000321867.4	Missense_Mutation	SNP	12 : 132394520 - 132394520 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	48
FAM83C	128876	broad.mit.edu	37	20	33879692	33879692	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33879692G>A	ENST00000374408.3	-	1	512	c.416C>T	c.(415-417)aCa>aTa	p.T139I		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	139										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GCTGAAGCCTGTGGCCTGTGG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	79	78			NA	NA	20		NA											NA				33879692		2203	4300	6503	SO:0001583	missense			AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998	128876	128876			16121	protein-coding gene	gene with protein product			chromosome 20 open reading frame 128	C20orf128	NA		Standard		NM_178468	NA	Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.416C>T	20.37:g.33879692G>A	ENSP00000363529:p.Thr139Ile	NA	Q14D67|Q5JWN6|Q8N276	37	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.054034	0.55218	.	.	ENSG00000125998	ENST00000374408	T	0.11277	2.79	4.83	4.83	0.62350	.	0.338132	0.30959	N	0.008532	T	0.24044	0.0582	L	0.38531	1.155	0.48830	D	0.999719	D	0.89917	1.0	D	0.79784	0.993	T	0.00472	-1.1719	10	0.41790	T	0.15	-27.7727	17.0208	0.86433	0.0:0.0:1.0:0.0	.	139	Q9BQN1	FA83C_HUMAN	I	139	ENSP00000363529:T139I	ENSP00000363529:T139I	T	-	2	0	FAM83C	33343106	1.000000	0.71417	0.997000	0.53966	0.715000	0.41141	3.363000	0.52321	2.682000	0.91365	0.561000	0.74099	ACA	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078854.3		-	ENST00000374408.3	Missense_Mutation	SNP	20 : 33879692 - 33879692 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	812	146
LRFN1	57622	broad.mit.edu	37	19	39798496	39798496	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39798496G>A	ENST00000248668.4	-	2	2092	c.2093C>T	c.(2092-2094)cCg>cTg	p.P698L		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	698						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CTGCGGCCTCGGCCGGGCCGC	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													7	8	8			NA	NA	19		NA											NA				39798496		1818	4022	5840	SO:0001583	missense			BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011	57622	57622		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	29290	protein-coding gene	gene with protein product		612807			NA	10819331, 16828986	Standard	NM_020862	NM_020862	NA	Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.2093C>T	19.37:g.39798496G>A	ENSP00000248668:p.Pro698Leu	NA	Q8TBS9	37	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	G	2.755	-0.259229	0.05791	.	.	ENSG00000128011	ENST00000248668	T	0.62498	0.02	4.48	2.16	0.27623	.	1.002150	0.08049	N	0.996419	T	0.36413	0.0966	N	0.08118	0	0.32786	N	0.501836	P	0.40083	0.702	B	0.25291	0.059	T	0.33369	-0.9871	10	0.39692	T	0.17	.	10.8054	0.46514	0.0:0.1395:0.7155:0.145	.	698	Q9P244	LRFN1_HUMAN	L	698	ENSP00000248668:P698L	ENSP00000248668:P698L	P	-	2	0	LRFN1	44490336	0.751000	0.28327	0.918000	0.36340	0.040000	0.13550	4.322000	0.59215	0.350000	0.24002	-2.048000	0.00412	CCG	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463835.1		-	ENST00000248668.4	Missense_Mutation	SNP	19 : 39798496 - 39798496 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	94	23
SYT5	6861	broad.mit.edu	37	19	55689710	55689710	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55689710C>T	ENST00000354308.3	-	3	475	c.106G>A	c.(106-108)Gtg>Atg	p.V36M	SYT5_ENST00000537500.1_Missense_Mutation_p.V36M|SYT5_ENST00000590851.1_Intron	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	36					energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GAGACCAGCACGATGGTGGCC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	24	23			NA	NA	19		NA											NA				55689710		2203	4300	6503	SO:0001583	missense			X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990	6861	6861		Synaptotagmins	11513	protein-coding gene	gene with protein product	synaptotagmin 5	600782			NA	9177789	Standard	NM_003180	XM_006723338	NA	Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.106G>A	19.37:g.55689710C>T	ENSP00000346265:p.Val36Met	NA	Q86X72	37	CCDS12919.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969891	0.53614	.	.	ENSG00000129990	ENST00000537500;ENST00000354308	T;T	0.55413	0.52;0.52	4.06	-4.23	0.03789	.	0.438834	0.23508	N	0.047428	T	0.26484	0.0647	N	0.24115	0.695	0.32416	N	0.549983	B;P	0.46987	0.275;0.888	B;B	0.38842	0.016;0.283	T	0.38200	-0.9672	10	0.46703	T	0.11	.	4.6511	0.12596	0.1177:0.2183:0.5288:0.1352	.	36;36	Q4FD32;O00445	.;SYT5_HUMAN	M	36	ENSP00000442896:V36M;ENSP00000346265:V36M	ENSP00000346265:V36M	V	-	1	0	SYT5	60381522	0.030000	0.19436	0.904000	0.35570	0.929000	0.56500	-0.074000	0.11450	-0.275000	0.09219	0.561000	0.74099	GTG	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452501.1		-	ENST00000354308.3	Missense_Mutation	SNP	19 : 55689710 - 55689710 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	132	22
TET1	80312	broad.mit.edu	37	10	70406025	70406025	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70406025C>T	ENST00000373644.4	+	4	3748	c.3539C>T	c.(3538-3540)tCc>tTc	p.S1180F		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1180					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GAAAAGTTGTCCTATATGTAT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	77	77			NA	NA	10		NA											NA				70406025		2203	4300	6503	SO:0001583	missense			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336	80312	80312			29484	protein-coding gene	gene with protein product	leukemia-associated protein with a CXXC domain, ten-eleven translocation-1	607790	CXXC zinc finger 6, tet oncogene 1	CXXC6	NA	12124344, 12646957	Standard	NM_030625	NM_030625	NA	Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.3539C>T	10.37:g.70406025C>T	ENSP00000362748:p.Ser1180Phe	NA	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	37	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.325739	0.24080	.	.	ENSG00000138336	ENST00000373644	T	0.08634	3.07	5.12	5.12	0.69794	.	0.827937	0.10311	N	0.689957	T	0.14098	0.0341	N	0.19112	0.55	0.09310	N	1	P	0.52316	0.952	P	0.54460	0.753	T	0.34775	-0.9815	10	0.72032	D	0.01	.	15.7318	0.77810	0.0:1.0:0.0:0.0	.	1180	Q8NFU7	TET1_HUMAN	F	1180	ENSP00000362748:S1180F	ENSP00000362748:S1180F	S	+	2	0	TET1	70076031	0.790000	0.28787	0.039000	0.18376	0.008000	0.06430	4.544000	0.60691	2.394000	0.81467	0.563000	0.77884	TCC	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048354.1		+	ENST00000373644.4	Missense_Mutation	SNP	10 : 70406025 - 70406025 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	481	82
ZNF202	7753	broad.mit.edu	37	11	123598907	123598907	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123598907G>A	ENST00000529691.1	-	5	985	c.766C>T	c.(766-768)Cca>Tca	p.P256S	ZNF202_ENST00000336139.4_Missense_Mutation_p.P256S|ZNF202_ENST00000530393.1_Missense_Mutation_p.P256S			O95125	ZN202_HUMAN	zinc finger protein 202	256	KRAB.				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TTCTGTGTTGGGTCCAGATCA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	112	116			NA	NA	11		NA											NA				123598907		2202	4299	6501	SO:0001583	missense			AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261	7753	7753		Zinc fingers, C2H2-type, -, -, -	12994	protein-coding gene	gene with protein product		603430			NA	9790754	Standard	NM_003455	XM_005271659	NA	Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.766C>T	11.37:g.123598907G>A	ENSP00000433881:p.Pro256Ser	NA	B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	37	CCDS8443.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828829	0.71258	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691	T;T;T	0.02280	4.36;4.36;4.36	5.11	5.11	0.69529	Krueppel-associated box (4);	0.000000	0.47852	D	0.000214	T	0.08133	0.0203	L	0.52364	1.645	0.37552	D	0.91871	D	0.89917	1.0	D	0.72982	0.979	T	0.18366	-1.0339	10	0.44086	T	0.13	-13.3373	11.8553	0.52433	0.0:0.1767:0.8232:0.0	.	256	O95125	ZN202_HUMAN	S	256	ENSP00000337724:P256S;ENSP00000432504:P256S;ENSP00000433881:P256S	ENSP00000337724:P256S	P	-	1	0	ZNF202	123104117	0.791000	0.28800	0.997000	0.53966	0.977000	0.68977	1.793000	0.38764	2.382000	0.81193	0.561000	0.74099	CCA	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387419.1		-	ENST00000529691.1	Missense_Mutation	SNP	11 : 123598907 - 123598907 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	69
TTN	7273	broad.mit.edu	37	2	179444459	179444459	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179444459C>T	ENST00000589042.1	-	319	67689	c.67465G>A	c.(67465-67467)Gat>Aat	p.D22489N	TTN-AS1_ENST00000586831.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D20848N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D13549N|TTN_ENST00000460472.2_Missense_Mutation_p.D13424N|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D19921N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D13616N|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20848	Fibronectin type-III 63.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCAGGAAATCAACTACATAT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	105	107			NA	NA	2		NA											NA				179444459		1901	4115	6016	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.67465G>A	2.37:g.179444459C>T	ENSP00000467141:p.Asp22489Asn	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.826684	0.50739	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.38	5.38	0.77491	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62344	0.2420	L	0.39898	1.24	0.54753	D	0.999988	P;P;P;P	0.50819	0.939;0.939;0.939;0.939	P;P;P;P	0.56278	0.739;0.739;0.739;0.795	T	0.64575	-0.6375	9	0.87932	D	0	.	19.4705	0.94961	0.0:1.0:0.0:0.0	.	13424;13549;13616;20848	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	19921;13424;13616;13549;13422	ENSP00000343764:D19921N;ENSP00000434586:D13424N;ENSP00000340554:D13616N;ENSP00000352154:D13549N	ENSP00000340554:D13616N	D	-	1	0	TTN	179152705	1.000000	0.71417	0.981000	0.43875	0.862000	0.49288	7.729000	0.84864	2.666000	0.90696	0.462000	0.41574	GAT	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179444459 - 179444459 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	431	48
SUCO	51430	broad.mit.edu	37	1	172558587	172558587	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:172558587G>A	ENST00000367723.4	+	17	2923	c.2799G>A	c.(2797-2799)gaG>gaA	p.E933E	SUCO_ENST00000610051.1_Intron|SUCO_ENST00000263688.3_Silent_p.E782E|SUCO_ENST00000608151.1_Silent_p.E934E	NM_016227.2	NP_057311.3			SUN domain containing ossification factor	NA											NA						AAAAGTCTGAGAGCTTTAGTT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	47	46			NA	NA	1		NA											NA				172558587		2190	4283	6473	SO:0001819	synonymous_variant			AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975	51430	51430			1240	protein-coding gene	gene with protein product	SUN-like protein 1, osteopotentia		chromosome 1 open reading frame 9	C1orf9	NA	10673381, 20440000	Standard	NM_016227	NM_001282750	NA	Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000367723.4:c.2799G>A	1.37:g.172558587G>A		NA		37																																																																																				SUCO-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000084274.2		+	ENST00000367723.4	Silent	SNP	1 : 172558587 - 172558587 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	77
STK11IP	114790	broad.mit.edu	37	2	220479972	220479972	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220479972G>A	ENST00000456909.1	+	24	3116	c.3026G>A	c.(3025-3027)cGt>cAt	p.R1009H	STK11IP_ENST00000295641.10_Missense_Mutation_p.R1020H			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	1020					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGCTGTGCGTGTCAGGGAG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	18	17			NA	NA	2		NA											NA				220479972		2090	4208	6298	SO:0001583	missense			AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589	114790	114790			19184	protein-coding gene	gene with protein product	LKB1 interacting protein	607172			NA	11741830	Standard	NM_052902	NM_052902	NA	Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.3026G>A	2.37:g.220479972G>A	ENSP00000389383:p.Arg1009His	NA	Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.291|3.291	-0.144925|-0.144925	0.06627|0.06627	.|.	.|.	ENSG00000144589|ENSG00000144589	ENST00000456909;ENST00000295641|ENST00000447191	T;T|.	0.04917|.	3.54;3.53|.	4.53|4.53	0.362|0.362	0.16113|0.16113	.|.	1.300970|.	0.04990|.	N|.	0.467081|.	T|T	0.35682|0.35682	0.0940|0.0940	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	B|.	0.09022|.	0.002|.	B|.	0.06405|.	0.002|.	T|T	0.29305|0.29305	-1.0016|-1.0016	10|5	0.30854|.	T|.	0.27|.	1.988|1.988	6.9002|6.9002	0.24279|0.24279	0.4374:0.0:0.5626:0.0|0.4374:0.0:0.5626:0.0	.|.	1020|.	Q8N1F8|.	S11IP_HUMAN|.	H|M	1009;1020|109	ENSP00000389383:R1009H;ENSP00000295641:R1020H|.	ENSP00000295641:R1020H|.	R|V	+|+	2|1	0|0	STK11IP|STK11IP	220188216|220188216	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.017000|0.017000	0.09413|0.09413	-0.210000|-0.210000	0.09345|0.09345	0.125000|0.125000	0.18397|0.18397	0.561000|0.561000	0.74099|0.74099	CGT|GTG	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000131432.1		+	ENST00000456909.1	Missense_Mutation	SNP	2 : 220479972 - 220479972 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	102	16
GRTP1	79774	broad.mit.edu	37	13	113980393	113980393	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113980393C>T	ENST00000375431.4	-	6	650	c.576G>A	c.(574-576)ccG>ccA	p.P192P	GRTP1_ENST00000326039.3_Silent_p.P114P|GRTP1_ENST00000375430.4_Silent_p.P192P	NM_024719.2	NP_078995.2	Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	192	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			CCAGCATGGCCGGGCTGTAGT	0.632		NA											C	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	0.0016	SNP								NA				0								C		0,4406		0,0,2203	35	45	42		576	-9.4	0	13		42	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GRTP1	NM_024719.2		0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077		192/337	113980393	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AK026127	CCDS9534.2, CCDS66591.1, CCDS73606.1	13q34	2011-11-30			ENSG00000139835	ENSG00000139835	79774	79774			20310	protein-coding gene	gene with protein product					NA	11564724	Standard	NM_024719	NM_001286732	NA	Approved	FLJ22474, TBC1D6	uc001vtn.3	Q5TC63	OTTHUMG00000017381	ENST00000375431.4:c.576G>A	13.37:g.113980393C>T		NA	Q2M232|Q5TC64|Q66K26|Q6P659|Q8N528|Q9H695	37	CCDS9534.2																																																																																			GRTP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045882.5		-	ENST00000375431.4	Silent	SNP	13 : 113980393 - 113980393 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	470	49
UBE2J1	51465	broad.mit.edu	37	6	90053428	90053428	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90053428C>A	ENST00000435041.2	-	2	357	c.79G>T	c.(79-81)Gat>Tat	p.D27Y		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	27						endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity			NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		TGGTAATGATCTGTTGGATCT	0.269		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	59	59			NA	NA	6		NA											NA				90053428		2203	4298	6501	SO:0001583	missense			AJ245898	CCDS5021.1	6q15	2014-01-28	2012-06-08		ENSG00000198833	ENSG00000198833	51465	51465		Ubiquitin-conjugating enzymes E2	17598	protein-coding gene	gene with protein product			ubiquitin-conjugating enzyme E2, J1 (UBC6 homolog, yeast)		NA	10708578	Standard	NM_016021	NM_016021	NA	Approved	HSPC153, CGI-76, NCUBE1, UBC6	uc003pnc.3	Q9Y385	OTTHUMG00000016337	ENST00000435041.2:c.79G>T	6.37:g.90053428C>A	ENSP00000451261:p.Asp27Tyr	NA	A8K3F9|Q5W0N4|Q9BZ32|Q9NQL3|Q9NY66|Q9P011|Q9P0S0|Q9UF10	37	CCDS5021.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843161	0.71488	.	.	ENSG00000198833	ENST00000435041;ENST00000536477	T	0.46451	0.87	5.4	5.4	0.78164	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.042805	0.85682	D	0.000000	T	0.24586	0.0596	N	0.25286	0.73	0.80722	D	1	B	0.33777	0.425	B	0.36289	0.221	T	0.12066	-1.0562	10	0.54805	T	0.06	.	19.5511	0.95322	0.0:1.0:0.0:0.0	.	27	Q9Y385	UB2J1_HUMAN	Y	27;12	ENSP00000451261:D27Y	ENSP00000354684:D27Y	D	-	1	0	UBE2J1	90110147	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.423000	0.73361	2.704000	0.92352	0.650000	0.86243	GAT	UBE2J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043742.2		-	ENST00000435041.2	Missense_Mutation	SNP	6 : 90053428 - 90053428 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	167	42
DUSP27	92235	broad.mit.edu	37	1	167097730	167097730	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167097730G>A	ENST00000361200.2	+	6	3528	c.3362G>A	c.(3361-3363)cGg>cAg	p.R1121Q	DUSP27_ENST00000271385.5_Missense_Mutation_p.R1121Q|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.R1121Q			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1121					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TCCCAGTATCGGAGAAGCACT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	41	42			NA	NA	1		NA											NA				167097730		2203	4300	6503	SO:0001583	missense			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842	92235	92235			25034	protein-coding gene	gene with protein product					NA		Standard	NM_001080426	NM_001080426	NA	Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.3362G>A	1.37:g.167097730G>A	ENSP00000354483:p.Arg1121Gln	NA	A0AUM4|Q9C074	37	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.522319	0.27211	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.04551	3.6;3.6;3.6	5.4	4.42	0.53409	.	0.339926	0.22015	N	0.065807	T	0.02970	0.0088	M	0.65975	2.015	0.31764	N	0.632927	D	0.53462	0.96	B	0.39876	0.312	T	0.25779	-1.0122	10	0.87932	D	0	-10.1831	10.9711	0.47441	0.1692:0.0:0.8308:0.0	.	1121	Q5VZP5	DUS27_HUMAN	Q	1121	ENSP00000354483:R1121Q;ENSP00000271385:R1121Q;ENSP00000404874:R1121Q	ENSP00000271385:R1121Q	R	+	2	0	DUSP27	165364354	1.000000	0.71417	0.995000	0.50966	0.077000	0.17291	4.046000	0.57376	1.133000	0.42147	0.549000	0.68633	CGG	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083244.1		+	ENST00000361200.2	Missense_Mutation	SNP	1 : 167097730 - 167097730 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	252	35
INTU	27152	broad.mit.edu	37	4	128625399	128625399	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128625399A>G	ENST00000335251.6	+	10	1623	c.1520A>G	c.(1519-1521)gAc>gGc	p.D507G	INTU_ENST00000512995.1_3'UTR	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	NA										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						GATTACTATGACATGAGGCGG	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	125	124			NA	NA	4		NA											NA				128625399		2203	4300	6503	SO:0001583	missense			BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066	27152	27152			29239	protein-coding gene	gene with protein product		610621	PDZ domain containing 6, inturned planar cell polarity effector homolog (Drosophila)	PDZK6, PDZD6	NA	10574462, 21761479	Standard	XM_371707	NM_015693	NA	Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.1520A>G	4.37:g.128625399A>G	ENSP00000334003:p.Asp507Gly	NA	A1L4N5|Q4W5I8|Q86V55	37	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	A	12.28	1.890620	0.33348	.	.	ENSG00000164066	ENST00000335251	T	0.32515	1.45	5.14	5.14	0.70334	.	0.166700	0.52532	D	0.000064	T	0.22627	0.0546	N	0.21142	0.635	0.80722	D	1	B	0.12013	0.005	B	0.13407	0.009	T	0.03483	-1.1032	10	0.31617	T	0.26	-15.4633	14.7898	0.69830	1.0:0.0:0.0:0.0	.	507	Q9ULD6	PDZD6_HUMAN	G	507	ENSP00000334003:D507G	ENSP00000334003:D507G	D	+	2	0	INTU	128844849	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.459000	0.60102	2.158000	0.67659	0.454000	0.30748	GAC	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364147.2		+	ENST00000335251.6	Missense_Mutation	SNP	4 : 128625399 - 128625399 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	566	126
LTN1	26046	broad.mit.edu	37	21	30359125	30359125	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30359125T>G	ENST00000389195.2	-	2	316	c.311A>C	c.(310-312)gAc>gCc	p.D104A	LTN1_ENST00000361371.5_Missense_Mutation_p.D58A|LTN1_ENST00000389194.2_Missense_Mutation_p.D104A			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	58							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TACAAGACTGTCAATTTCTTC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	91	90			NA	NA	21		NA											NA				30359125		2203	4300	6503	SO:0001583	missense			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862	26046	26046		RING-type (C3HC4) zinc fingers	13082	protein-coding gene	gene with protein product	listerin	613083	chromosome 21 open reading frame 98, zinc finger protein 294, ring finger protein 160	C21orf98, C21orf10, ZNF294, RNF160	NA	20835226, 19196968	Standard	NM_015565	NM_015565	NA	Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000389195.2:c.311A>C	21.37:g.30359125T>G	ENSP00000373847:p.Asp104Ala	NA	A6NL41|A7E2D0|B2RTS0|C9J7U3|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	37		.	.	.	.	.	.	.	.	.	.	T	24.2	4.506445	0.85282	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	T;T;T	0.66099	2.06;2.06;-0.19	4.83	4.83	0.62350	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76234	0.3959	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.76160	-0.3061	10	0.39692	T	0.17	.	14.5774	0.68258	0.0:0.0:0.0:1.0	.	58	O94822	LTN1_HUMAN	A	104;58;58;104	ENSP00000373846:D104A;ENSP00000354977:D58A;ENSP00000373847:D104A	ENSP00000354977:D58A	D	-	2	0	LTN1	29280996	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.461000	0.80834	2.034000	0.60081	0.459000	0.35465	GAC	LTN1-002	PUTATIVE	non_canonical_conserved|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000171852.1		-	ENST00000389195.2	Missense_Mutation	SNP	21 : 30359125 - 30359125 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	83
KLK15	55554	broad.mit.edu	37	19	51330990	51330990	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51330990C>T	ENST00000326856.4	-	3	251	c.122G>A	c.(121-123)cGt>cAt	p.R41H	KLK15_ENST00000416184.1_Missense_Mutation_p.R42H|KLK15_ENST00000596931.1_Missense_Mutation_p.R41H|KLK15_ENST00000301421.2_Missense_Mutation_p.R42H|KLK15_ENST00000598239.1_Missense_Mutation_p.R42H	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	42	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		AAAGCGTCCACGCTCGTAGAG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(140;10 2513 7143 9246)							NA				0													99	72	81			NA	NA	19		NA											NA				51330990		2203	4296	6499	SO:0001583	missense			AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562	55554	55554		Kallikreins	20453	protein-coding gene	gene with protein product		610601	kallikrein 15		NA	11010966, 12439720, 16800724, 16800723	Standard	NM_017509	NM_017509	NA	Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000326856.4:c.122G>A	19.37:g.51330990C>T	ENSP00000314783:p.Arg41His	NA	A0AUY8|Q15358|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	37		.	.	.	.	.	.	.	.	.	.	C	13.37	2.218055	0.39201	.	.	ENSG00000174562	ENST00000326856;ENST00000416184;ENST00000301421;ENST00000544946	D;D	0.93019	-3.15;-3.15	4.66	1.38	0.22167	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.345819	0.20904	N	0.083599	D	0.86502	0.5948	L	0.32530	0.975	0.09310	N	1	B;B;B;B	0.28419	0.036;0.067;0.211;0.059	B;B;B;B	0.24269	0.002;0.052;0.032;0.051	T	0.76299	-0.3010	10	0.41790	T	0.15	.	8.055	0.30600	0.0:0.7289:0.0:0.2711	.	42;41;42;42	Q6UBM2;Q6ISI0;Q9H2R5-4;Q9H2R5	.;.;.;KLK15_HUMAN	H	42	ENSP00000415136:R42H;ENSP00000301421:R42H	ENSP00000301421:R42H	R	-	2	0	KLK15	56022802	0.011000	0.17503	0.003000	0.11579	0.895000	0.52256	0.694000	0.25512	0.304000	0.22809	0.561000	0.74099	CGT	KLK15-001	NOVEL	NAGNAG_splice_site|basic	protein_coding	NA	protein_coding	OTTHUMT00000465158.1		-	ENST00000326856.4	Missense_Mutation	SNP	19 : 51330990 - 51330990 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	260	16
CAMTA2	23125	broad.mit.edu	37	17	4872557	4872557	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4872557G>A	ENST00000572543.1	-	21	3485	c.3373C>T	c.(3373-3375)Cga>Tga	p.R1125*	CAMTA2_ENST00000348066.3_Nonsense_Mutation_p.R1120*|CAMTA2_ENST00000361571.5_Nonsense_Mutation_p.R1119*|CAMTA2_ENST00000358183.4_Nonsense_Mutation_p.R1113*|CAMTA2_ENST00000414043.3_Nonsense_Mutation_p.R1143*|CAMTA2_ENST00000381311.5_Nonsense_Mutation_p.R1115*			O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	1120	IQ 2.				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TGCTGAAATCGCTTCTGTTCA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	62	60			NA	NA	17		NA											NA				4872557		2203	4299	6502	SO:0001587	stop_gained			AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509	23125	23125			18807	protein-coding gene	gene with protein product		611508			NA	11925432	Standard	NM_015099	NM_015099	NA	Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000572543.1:c.3373C>T	17.37:g.4872557G>A	ENSP00000460779:p.Arg1125*	NA	B9EGL0|D3DTL5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	37		.	.	.	.	.	.	.	.	.	.	G	41	8.559694	0.98863	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	.	.	.	4.21	3.23	0.37069	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6456	11.2237	0.48871	0.0:0.0:0.8164:0.1836	.	.	.	.	X	1143;1115;1119;1113;1120	.	ENSP00000321813:R1120X	R	-	1	2	CAMTA2	4813281	0.037000	0.19845	0.997000	0.53966	0.994000	0.84299	0.178000	0.16820	0.969000	0.38237	0.563000	0.77884	CGA	CAMTA2-007	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000438757.1		-	ENST00000572543.1	Nonsense_Mutation	SNP	17 : 4872557 - 4872557 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	575	17
LCP1	3936	broad.mit.edu	37	13	46704966	46704966	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46704966C>T	ENST00000398576.2	-	18	2122	c.1734G>A	c.(1732-1734)gaG>gaA	p.E578E	LCP1_ENST00000323076.2_Silent_p.E578E|LCP1_ENST00000435666.2_Silent_p.E147E			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	578	Actin-binding 2.|CH 4.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TGTTGAGTTTCTCATCATCAT	0.423		NA	T	BCL6	NHL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		13	13q14.1-q14.3	3936	lymphocyte cytosolic protein 1 (L-plastin)		L	0													199	191	194			NA	NA	13		NA											NA				46704966		2203	4300	6503	SO:0001819	synonymous_variant			M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167	3936	3936		EF-hand domain containing	6528	protein-coding gene	gene with protein product	plastin 2	153430			NA	2111166	Standard	NM_002298	NM_002298	NA	Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1734G>A	13.37:g.46704966C>T		NA	B2R613|Q5TBN4	37	CCDS9403.1																																																																																			LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044800.3		-	ENST00000398576.2	Silent	SNP	13 : 46704966 - 46704966 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	534	88
PCDHGB1	56104	broad.mit.edu	37	5	140731436	140731436	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140731436G>A	ENST00000523390.1	+	1	1609	c.1609G>A	c.(1609-1611)Gcg>Acg	p.A537T	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1			protocadherin gamma subfamily B, 1	NA								p.A537T(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTCCCCCGCGCTCAGCGC	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	prostate(2)											39	48	45			NA	NA	5		NA											NA				140731436		2112	4229	6341	SO:0001583	missense			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221	56104	56104		Cadherins / Protocadherins : Clustered	8708	other	protocadherin	protocadherin gamma subfamily B, 1, isoform 2	606299			NA	10380929	Standard	NM_018922	NM_018922	NA	Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1609G>A	5.37:g.140731436G>A	ENSP00000429273:p.Ala537Thr	NA		37	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	12.79	2.042731	0.36085	.	.	ENSG00000254221	ENST00000523390	T	0.52295	0.67	5.39	1.16	0.20824	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.33000	0.0848	L	0.28274	0.84	0.23361	N	0.997831	B;B	0.34241	0.444;0.205	B;B	0.38458	0.18;0.274	T	0.25745	-1.0123	9	0.51188	T	0.08	.	3.9761	0.09475	0.1431:0.3148:0.4298:0.1123	.	537;537	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	T	537	ENSP00000429273:A537T	ENSP00000429273:A537T	A	+	1	0	PCDHGB1	140711620	0.000000	0.05858	0.969000	0.41365	0.748000	0.42578	-0.363000	0.07593	0.294000	0.22547	0.563000	0.77884	GCG	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374740.1		+	ENST00000523390.1	Missense_Mutation	SNP	5 : 140731436 - 140731436 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	589	62
TUBA4A	7277	broad.mit.edu	37	2	220116407	220116407	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220116407C>T	ENST00000392088.2	-	3	765	c.210G>A	c.(208-210)caG>caA	p.Q70Q	TUBA4A_ENST00000498660.1_5'UTR|TUBA4A_ENST00000248437.4_Silent_p.Q85Q	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	85					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTGGAAGAGCTGTCGGTATG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	84	87			NA	NA	2		NA											NA				220116407		2203	4300	6503	SO:0001819	synonymous_variant			AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824	7277	7277		Tubulins	12407	protein-coding gene	gene with protein product		191110	tubulin, alpha 1 (testis specific), tubulin, alpha 1	TUBA1	NA	3785200	Standard	NM_006000	NM_006000	NA	Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000392088.2:c.210G>A	2.37:g.220116407C>T		NA	B3KNQ6|P05215	37																																																																																				TUBA4A-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000259055.3		-	ENST00000392088.2	Silent	SNP	2 : 220116407 - 220116407 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	59
ZNF189	7743	broad.mit.edu	37	9	104170227	104170227	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104170227T>C	ENST00000374861.3	+	3	419	c.135T>C	c.(133-135)gaT>gaC	p.D45D	ZNF189_ENST00000259395.4_Silent_p.D17D|ZNF189_ENST00000339664.2_Silent_p.D59D	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	59	KRAB.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TGAACAGAGATAAGGATGAGG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	54	53			NA	NA	9		NA											NA				104170227		2202	4300	6502	SO:0001819	synonymous_variant			AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870	7743	7743		Zinc fingers, C2H2-type, -	12980	protein-coding gene	gene with protein product		603132			NA	9653648	Standard	NM_003452	NM_003452	NA	Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000374861.3:c.135T>C	9.37:g.104170227T>C		NA	O75802|Q5T7D7|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	37																																																																																				ZNF189-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000053448.1		+	ENST00000374861.3	Silent	SNP	9 : 104170227 - 104170227 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	100	15
STAR	6770	broad.mit.edu	37	8	38006170	38006170	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38006170C>T	ENST00000276449.4	-	2	613	c.167G>A	c.(166-168)aGc>aAc	p.S56N		NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	56					C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		GAGTAGAGAGCTCCGCCGCCG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	47	46			NA	NA	8		NA											NA				38006170		2203	4300	6503	SO:0001583	missense			BC010550	CCDS6102.1	8p11.2	2011-09-13	2007-05-15		ENSG00000147465	ENSG00000147465	6770	6770		StAR-related lipid transfer (START) domain containing	11359	protein-coding gene	gene with protein product	StAR-related lipid transfer (START) domain containing 1	600617	steroidogenic acute regulator		NA	7761400	Standard	NM_000349	NM_000349	NA	Approved	StAR, STARD1	uc003xkv.1	P49675	OTTHUMG00000164058	ENST00000276449.4:c.167G>A	8.37:g.38006170C>T	ENSP00000276449:p.Ser56Asn	NA	Q16396	37	CCDS6102.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.55|19.55	3.848541|3.848541	0.71603|0.71603	.|.	.|.	ENSG00000147465|ENSG00000147465	ENST00000522050|ENST00000276449	.|D	.|0.86366	.|-2.11	5.39|5.39	5.39|5.39	0.77823|0.77823	.|START-like domain (1);	.|0.035602	.|0.85682	.|D	.|0.000000	D|D	0.86859|0.86859	0.6034|0.6034	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	.|B	.|0.12630	.|0.006	.|B	.|0.11329	.|0.006	T|T	0.82099|0.82099	-0.0625|-0.0625	5|10	.|0.33940	.|T	.|0.23	-21.6343|-21.6343	19.5117|19.5117	0.95144|0.95144	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|56	.|P49675	.|STAR_HUMAN	T|N	35|56	.|ENSP00000276449:S56N	.|ENSP00000276449:S56N	A|S	-|-	1|2	0|0	STAR|STAR	38125327|38125327	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.778000|0.778000	0.44026|0.44026	2.710000|2.710000	0.47169|0.47169	2.687000|2.687000	0.91594|0.91594	0.462000|0.462000	0.41574|0.41574	GCT|AGC	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376990.2		-	ENST00000276449.4	Missense_Mutation	SNP	8 : 38006170 - 38006170 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	57
PDK1	5163	broad.mit.edu	37	2	173457694	173457694	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173457694G>A	ENST00000282077.3	+	10	1270	c.1088G>A	c.(1087-1089)cGt>cAt	p.R363H	PDK1_ENST00000410055.1_Missense_Mutation_p.R363H|PDK1_ENST00000392571.2_Missense_Mutation_p.R383H|PDK1_ENST00000543905.1_Missense_Mutation_p.R287H|PDK1_ENST00000544863.1_Missense_Mutation_p.R208H			Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	NA	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			CCCATATCACGTCTTTACGCA	0.383		NA							Autosomal Dominant Polycystic Kidney Disease					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	131	132			NA	NA	2		NA											NA				173457694		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	ADPKD	L42450	CCDS2250.1, CCDS63059.1	2q31.1	2008-05-23	2005-11-16		ENSG00000152256	ENSG00000152256	5163	5163			8809	protein-coding gene	gene with protein product		602524	pyruvate dehydrogenase kinase, isoenzyme 1		NA	7499431	Standard	NM_002610	NR_103731	NA	Approved		uc002uhs.3	Q15118	OTTHUMG00000132285	ENST00000282077.3:c.1088G>A	2.37:g.173457694G>A	ENSP00000282077:p.Arg363His	NA	B2R6T1|D3DPD8	37	CCDS2250.1	.	.	.	.	.	.	.	.	.	.	G	36	5.740561	0.96873	.	.	ENSG00000152256	ENST00000543905;ENST00000544863;ENST00000282077;ENST00000392571;ENST00000410055	T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37	5.8	5.8	0.92144	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.099648	0.64402	D	0.000001	T	0.79992	0.4542	H	0.94620	3.56	0.80722	D	1	D;D	0.71674	0.998;0.992	P;P	0.61477	0.889;0.874	D	0.85090	0.0951	10	0.87932	D	0	-3.439	20.1182	0.97944	0.0:0.0:1.0:0.0	.	363;383	Q15118;E9PD65	PDK1_HUMAN;.	H	287;208;363;383;363	ENSP00000438567:R287H;ENSP00000437502:R208H;ENSP00000282077:R363H;ENSP00000376352:R383H;ENSP00000386985:R363H	ENSP00000282077:R363H	R	+	2	0	PDK1	173165940	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.775000	0.98995	2.775000	0.95449	0.650000	0.86243	CGT	PDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255380.3		+	ENST00000282077.3	Missense_Mutation	SNP	2 : 173457694 - 173457694 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	548	139
SKP2	6502	broad.mit.edu	37	5	36168460	36168460	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36168460A>G	ENST00000274255.6	+	5	778	c.582A>G	c.(580-582)gaA>gaG	p.E194E	SKP2_ENST00000508514.1_Intron|SKP2_ENST00000274254.5_Silent_p.E194E|SKP2_ENST00000546211.1_Intron	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	194					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGTTATAGAAGTGTCCACCC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													238	243	241			NA	NA	5		NA											NA				36168460		2203	4300	6503	SO:0001819	synonymous_variant			U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604	6502	6502		F-boxes / Leucine-rich repeats	10901	protein-coding gene	gene with protein product		601436	S-phase kinase-associated protein 2 (p45)		NA	8646875	Standard	NM_005983	NM_005983	NA	Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.582A>G	5.37:g.36168460A>G		NA	A8K5E0|Q8TDZ0|Q8TDZ1|Q9BV69	37	CCDS3916.1																																																																																			SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253769.2		+	ENST00000274255.6	Silent	SNP	5 : 36168460 - 36168460 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1457	291
LZTR1	8216	broad.mit.edu	37	22	21345925	21345925	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21345925G>A	ENST00000215739.8	+	9	1159	c.800G>A	c.(799-801)cGc>cAc	p.R267H	LZTR1_ENST00000389355.3_Missense_Mutation_p.R248H|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	267					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	p.R267H(2)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AGGTGGACACGCATCCCAACT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|large_intestine(1)											35	26	29			NA	NA	22		NA											NA				21345925		2202	4292	6494	SO:0001583	missense			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949	8216	8216		BTB/POZ domain containing	6742	protein-coding gene	gene with protein product		600574	leucine-zipper-like transcriptional regulator 1		NA	7633402, 16356934	Standard	NM_006767	NM_006767	NA	Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.800G>A	22.37:g.21345925G>A	ENSP00000215739:p.Arg267His	NA	Q14776|Q20WK0	37	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	G	32	5.136480	0.94517	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.67698	-0.28;-0.28	5.18	5.18	0.71444	Kelch-type beta propeller (1);	0.053822	0.85682	D	0.000000	T	0.81230	0.4779	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;P	0.74023	0.957;0.982;0.947;0.904	D	0.83501	0.0075	10	0.72032	D	0.01	-35.8024	16.1666	0.81759	0.0:0.0:1.0:0.0	.	248;226;267;226	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	H	226;267;248	ENSP00000215739:R267H;ENSP00000374006:R248H	ENSP00000215739:R267H	R	+	2	0	LZTR1	19675925	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.621000	0.83083	2.409000	0.81822	0.407000	0.27541	CGC	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320387.1		+	ENST00000215739.8	Missense_Mutation	SNP	22 : 21345925 - 21345925 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	80	10
CDHR2	54825	broad.mit.edu	37	5	176004468	176004468	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176004468G>T	ENST00000510636.1	+	13	1537	c.1263G>T	c.(1261-1263)gaG>gaT	p.E421D	CDHR2_ENST00000261944.5_Missense_Mutation_p.E421D|CDHR2_ENST00000506348.1_Missense_Mutation_p.E421D	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	421	Cadherin 4.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TCTCCCCGGAGCGGGCAGTGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	33	32			NA	NA	5		NA											NA				176004468		2201	4300	6501	SO:0001583	missense			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276	54825	54825		Cadherins / Cadherin-related	18231	protein-coding gene	gene with protein product	protocadherin LKC		protocadherin 24	PCDH24	NA	11082270, 12117771	Standard	NM_017675	NM_001171976	NA	Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1263G>T	5.37:g.176004468G>T	ENSP00000424565:p.Glu421Asp	NA	A6NC80|Q9NXP8	37	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	G	7.084	0.570842	0.13623	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.60797	0.16;0.16;0.16	4.54	0.779	0.18550	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.38295	0.1035	N	0.21097	0.63	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.22312	-1.0220	9	0.15499	T	0.54	-7.7342	9.2184	0.37362	0.3972:0.0:0.6028:0.0	.	421	Q9BYE9	CDHR2_HUMAN	D	421	ENSP00000424565:E421D;ENSP00000261944:E421D;ENSP00000421078:E421D	ENSP00000261944:E421D	E	+	3	2	CDHR2	175937074	0.014000	0.17966	0.001000	0.08648	0.002000	0.02628	1.911000	0.39937	0.273000	0.22049	-0.404000	0.06349	GAG	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372201.1		+	ENST00000510636.1	Missense_Mutation	SNP	5 : 176004468 - 176004468 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	125	35
PASK	23178	broad.mit.edu	37	2	242079416	242079416	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242079416G>A	ENST00000403638.3	-	4	575	c.484C>T	c.(484-486)Ctg>Ttg	p.L162L	PASK_ENST00000358649.4_Silent_p.L162L|PASK_ENST00000539818.1_Intron|PASK_ENST00000544142.1_Intron|PASK_ENST00000405260.1_Silent_p.L162L|PASK_ENST00000234040.4_Silent_p.L162L	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	162	PAS 1.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		TGGCCAATCAGGTCCTGGCTG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	53	57			NA	NA	2		NA											NA				242079416		2203	4300	6503	SO:0001819	synonymous_variant			U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687	23178	23178			17270	protein-coding gene	gene with protein product		607505			NA	11688972, 11459942, 15148392	Standard	NM_015148	NM_001252119	NA	Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000403638.3:c.484C>T	2.37:g.242079416G>A		NA	Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	37	CCDS58758.1																																																																																			PASK-002	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323752.1		-	ENST00000403638.3	Silent	SNP	2 : 242079416 - 242079416 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	232	42
KNTC1	9735	broad.mit.edu	37	12	123082326	123082326	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123082326G>A	ENST00000450485.2	+	27	2417				KNTC1_ENST00000545065.1_3'UTR|KNTC1_ENST00000333479.7_Silent_p.T1468T			P50748	KNTC1_HUMAN	kinetochore associated 1	NA					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TCATTGAAACGCTGCTCCACA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	95	96			NA	NA	12		NA											NA				123082326		2048	4209	6257	SO:0001627	intron_variant				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445	9735	9735			17255	protein-coding gene	gene with protein product	rough deal homolog (Drosophila)	607363			NA	11146660, 11590237	Standard		NM_014708	NA	Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000450485.2:c.2272-11605G>A	12.37:g.123082326G>A		NA	A7E2C4	37																																																																																				KNTC1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000396109.2		+	ENST00000450485.2	Intron	SNP	12 : 123082326 - 123082326 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	89
MYT1	4661	broad.mit.edu	37	20	62871223	62871223	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62871223C>T	ENST00000328439.1	+	22	3568	c.3204C>T	c.(3202-3204)atC>atT	p.I1068I	MYT1_ENST00000536311.1_Silent_p.I1095I	NM_004535.2	NP_004526.1	Q01538	MYT1_HUMAN	myelin transcription factor 1	1068					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGGCCCTCATCCAAAGTCTCG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(59;481 1041 20555 21139 33705)							NA				0													111	115	114			NA	NA	20		NA											NA				62871223		2203	4300	6503	SO:0001819	synonymous_variant			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132	4661	4661		Zinc fingers, C2HC-type containing	7622	protein-coding gene	gene with protein product	neural zinc finger transcription factor 2	600379		PLPB1	NA	1280325, 9268380	Standard	NM_004535	NM_004535	NA	Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.3204C>T	20.37:g.62871223C>T		NA	E1P5H0|O94922|Q9UPV2	37	CCDS13558.1																																																																																			MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080297.1		+	ENST00000328439.1	Silent	SNP	20 : 62871223 - 62871223 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	878	156
MYH4	4622	broad.mit.edu	37	17	10346788	10346788	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10346788C>A	ENST00000255381.2	-	40	5834	c.5724G>T	c.(5722-5724)gaG>gaT	p.E1908D	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1908					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCTTGGCCTCCTCCAGCTCGT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	118	122			NA	NA	17		NA											NA				10346788		2203	4300	6503	SO:0001583	missense				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424	4622	4622		Myosins / Myosin superfamily : Class II	7574	protein-coding gene	gene with protein product		160742	myosin, heavy polypeptide 4, skeletal muscle		NA	8518795	Standard	NM_017533	NM_017533	NA	Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5724G>T	17.37:g.10346788C>A	ENSP00000255381:p.Glu1908Asp	NA		37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	3.834	-0.035179	0.07543	.	.	ENSG00000141048	ENST00000255381	D	0.83419	-1.72	5.19	1.03	0.20045	Myosin tail (1);	0.000000	0.37577	U	0.002023	T	0.74943	0.3783	L	0.43646	1.37	0.38826	D	0.955749	B	0.24317	0.101	B	0.34385	0.181	T	0.62267	-0.6890	10	0.15499	T	0.54	.	8.9865	0.35997	0.0:0.5736:0.0:0.4264	.	1908	Q9Y623	MYH4_HUMAN	D	1908	ENSP00000255381:E1908D	ENSP00000255381:E1908D	E	-	3	2	MYH4	10287513	0.136000	0.22515	1.000000	0.80357	0.750000	0.42670	-0.450000	0.06803	0.447000	0.26695	0.655000	0.94253	GAG	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252731.1		-	ENST00000255381.2	Missense_Mutation	SNP	17 : 10346788 - 10346788 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	667	126
KIT	3815	broad.mit.edu	37	4	55565810	55565810	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55565810C>T	ENST00000288135.5	+	4	731	c.634C>T	c.(634-636)Cct>Tct	p.P212S		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	212	Ig-like C2-type 3.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAAAGCTGTGCCTGTTGTGTC	0.388		1	Mis, O		GIST, AML, TGCT, mastocytosis, mucosal melanoma	GIST, epithelioma	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	L, M, O, E	0													130	114	120			NA	NA	4		NA											NA				55565810		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404	3815	3815		CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	6342	protein-coding gene	gene with protein product		164920	piebald trait	PBT	NA	9027509	Standard		NM_001093772	NA	Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.634C>T	4.37:g.55565810C>T	ENSP00000288135:p.Pro212Ser	NA	Q99662|Q9UM99	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.985470	0.53934	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	D;D	0.88124	-2.34;-2.34	5.74	5.74	0.90152	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000007	D	0.93341	0.7877	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93277	0.6657	10	0.59425	D	0.04	.	18.0955	0.89488	0.0:1.0:0.0:0.0	.	212;212	P10721-2;P10721	.;KIT_HUMAN	S	212	ENSP00000288135:P212S;ENSP00000390987:P212S	ENSP00000288135:P212S	P	+	1	0	KIT	55260567	0.972000	0.33761	0.180000	0.23079	0.237000	0.25408	4.715000	0.61909	2.707000	0.92482	0.557000	0.71058	CCT	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250618.1		+	ENST00000288135.5	Missense_Mutation	SNP	4 : 55565810 - 55565810 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	68
SLC41A3	54946	broad.mit.edu	37	3	125735601	125735601	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125735601G>T	ENST00000383598.2	-	6	1070	c.785C>A	c.(784-786)cCa>cAa	p.P262Q	SLC41A3_ENST00000360370.4_Missense_Mutation_p.P288Q|SLC41A3_ENST00000315891.6_Missense_Mutation_p.P288Q|SLC41A3_ENST00000508835.1_Missense_Mutation_p.P171Q|SLC41A3_ENST00000346785.5_Missense_Mutation_p.P252Q	NM_001008487.1	NP_001008487.1	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	288						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		CAGGATGATTGGGAACCAGCC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	78	80			NA	NA	3		NA											NA				125735601		2203	4300	6503	SO:0001583	missense				CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544	54946	54946		Solute carriers	31046	protein-coding gene	gene with protein product		610803			NA		Standard	NM_017836	NM_001164475	NA	Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000383598.2:c.785C>A	3.37:g.125735601G>T	ENSP00000373092:p.Pro262Gln	NA	A6ND60|B3KSD9|C9JE96|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	37	CCDS33844.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962747	0.92791	.	.	ENSG00000114544	ENST00000360370;ENST00000346785;ENST00000383598;ENST00000458524;ENST00000315891;ENST00000508835	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.63271	0.2497	M	0.89414	3.03	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0;1.0	T	0.69942	-0.5008	10	0.72032	D	0.01	2.0573	16.9045	0.86123	0.0:0.0:1.0:0.0	.	171;288;288;252;288;262	B7Z4Y2;A8MQ22;E7ENY4;Q96GZ6-3;Q96GZ6;Q96GZ6-7	.;.;.;.;S41A3_HUMAN;.	Q	288;252;262;279;288;171	ENSP00000353533:P288Q;ENSP00000264471:P252Q;ENSP00000373092:P262Q;ENSP00000326070:P288Q;ENSP00000427409:P171Q	ENSP00000326070:P288Q	P	-	2	0	SLC41A3	127218291	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.600000	0.90860	2.596000	0.87737	0.591000	0.81541	CCA	SLC41A3-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370522.2		-	ENST00000383598.2	Missense_Mutation	SNP	3 : 125735601 - 125735601 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	392	65
FGB	2244	broad.mit.edu	37	4	155490440	155490440	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155490440G>T	ENST00000509493.1	+	4	556	c.282G>T	c.(280-282)aaG>aaT	p.K94N	FGB_ENST00000302068.4_Missense_Mutation_p.K313N|FGB_ENST00000502545.1_3'UTR			P02675	FIBB_HUMAN	fibrinogen beta chain	313			Missing (in New York-1).		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CAGATGGGAAGAATTACTGTG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(106;1133 1613 21870 46110 52656)							NA				0													137	130	132			NA	NA	4		NA											NA				155490440		2203	4300	6503	SO:0001583	missense				CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564	2244	2244		Fibrinogen C domain containing, Endogenous ligands	3662	protein-coding gene	gene with protein product		134830	fibrinogen, B beta polypeptide		NA		Standard	NM_005141	NM_005141	NA	Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000509493.1:c.282G>T	4.37:g.155490440G>T	ENSP00000426757:p.Lys94Asn	NA	B2R7G3|Q3KPF2	37		.	.	.	.	.	.	.	.	.	.	G	12.98	2.099002	0.37048	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	T;T	0.81163	-1.46;-1.46	5.67	-2.43	0.06522	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.87537	0.6202	M	0.78223	2.4	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.87404	0.2371	10	0.87932	D	0	.	14.6258	0.68621	0.3111:0.0:0.6889:0.0	.	296;313	B4E1D3;P02675	.;FIBB_HUMAN	N	313;296;94	ENSP00000306099:K313N;ENSP00000426757:K94N	ENSP00000306099:K313N	K	+	3	2	FGB	155709890	0.585000	0.26774	0.512000	0.27736	0.144000	0.21451	-0.021000	0.12504	-0.316000	0.08690	-0.302000	0.09304	AAG	FGB-010	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000365255.1		+	ENST00000509493.1	Missense_Mutation	SNP	4 : 155490440 - 155490440 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	721	59
SLC25A41	284427	broad.mit.edu	37	19	6427420	6427420	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6427420G>A	ENST00000321510.6	-	5	785	c.717C>T	c.(715-717)cgC>cgT	p.R239R		NM_173637.3	NP_775908.2	Q8N5S1	S2541_HUMAN	solute carrier family 25, member 41	239					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						GGTAAAGGGCGCGGGTGCCCT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	35	33			NA	NA	19		NA											NA				6427420		2197	4297	6494	SO:0001819	synonymous_variant			AK097761	CCDS45937.1	19p13.3	2013-05-22			ENSG00000181240	ENSG00000181240	284427	284427		Solute carriers	28533	protein-coding gene	gene with protein product		610822			NA	16949250	Standard	NM_173637	NM_173637	NA	Approved	FLJ40442, MGC34725, APC4	uc010dus.3	Q8N5S1		ENST00000321510.6:c.717C>T	19.37:g.6427420G>A		NA	A8MQ40|D6W642|Q8N7R4	37	CCDS45937.1																																																																																			SLC25A41-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462222.1		-	ENST00000321510.6	Silent	SNP	19 : 6427420 - 6427420 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	123	19
NLE1	54475	broad.mit.edu	37	17	33463193	33463193	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33463193C>T	ENST00000586869.1	-	8	1149	c.130G>A	c.(130-132)Gtg>Atg	p.V44M	NLE1_ENST00000442241.4_Missense_Mutation_p.V336M|NLE1_ENST00000360831.5_Missense_Mutation_p.V294M			Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	336						nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				CTCACCCGCACGAGGTTGTAT	0.552		NA											C	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0													168	171	170			NA	NA	17		NA											NA				33463193		2203	4300	6503	SO:0001583	missense				CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536	54475	54475		WD repeat domain containing	19889	protein-coding gene	gene with protein product	Notchless gene homolog, (Drosophila)				NA		Standard	NM_018096	XM_005257989	NA	Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000586869.1:c.130G>A	17.37:g.33463193C>T	ENSP00000466588:p.Val44Met	NA	O60868|Q59GJ8|Q9BU54	37	CCDS45647.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.63	2.293743	0.40594	.	.	ENSG00000073536	ENST00000442241;ENST00000360831;ENST00000537697	T	0.60171	0.21	5.1	3.0	0.34707	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.114208	0.64402	N	0.000016	T	0.58623	0.2135	L	0.43152	1.355	0.40738	D	0.982804	D;P	0.60575	0.988;0.904	P;P	0.59357	0.856;0.543	T	0.57277	-0.7839	10	0.37606	T	0.19	-17.8702	6.5262	0.22303	0.0:0.7806:0.0:0.2194	.	312;336	B4E074;Q9NVX2	.;NLE1_HUMAN	M	336;44;312	ENSP00000413572:V336M	ENSP00000354075:V44M	V	-	1	0	NLE1	30487306	0.996000	0.38824	0.182000	0.23118	0.185000	0.23345	3.248000	0.51430	1.396000	0.46663	-0.222000	0.12452	GTG	NLE1-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256444.2		-	ENST00000586869.1	Missense_Mutation	SNP	17 : 33463193 - 33463193 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1633	277
MUC6	4588	broad.mit.edu	37	11	1016172	1016172	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1016172G>A	ENST00000421673.2	-	31	6679	c.6629C>T	c.(6628-6630)gCc>gTc	p.A2210V		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2210	Ser-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGGAGAGTGGCCCTAATGGT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	46	44			NA	NA	11		NA											NA				1016172		2132	4227	6359	SO:0001583	missense			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956	4588	4588		Mucins	7517	protein-coding gene	gene with protein product		158374	mucin 6, gastric		NA	7680650	Standard	XM_290540	NM_005961	NA	Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6629C>T	11.37:g.1016172G>A	ENSP00000406861:p.Ala2210Val	NA	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	9.181	1.023623	0.19433	.	.	ENSG00000184956	ENST00000421673	T	0.22336	1.96	2.6	1.66	0.24008	.	.	.	.	.	T	0.09862	0.0242	N	0.08118	0	0.09310	N	1	B	0.30326	0.276	B	0.25759	0.063	T	0.25847	-1.0120	9	0.48119	T	0.1	.	7.7325	0.28796	0.1439:0.0:0.8561:0.0	.	2210	Q6W4X9	MUC6_HUMAN	V	2210	ENSP00000406861:A2210V	ENSP00000406861:A2210V	A	-	2	0	MUC6	1006172	0.001000	0.12720	0.003000	0.11579	0.014000	0.08584	0.771000	0.26633	0.372000	0.24591	0.448000	0.29417	GCC	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382120.2		-	ENST00000421673.2	Missense_Mutation	SNP	11 : 1016172 - 1016172 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	180	8
REG1A	5967	broad.mit.edu	37	2	79347941	79347941	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:79347941G>A	ENST00000233735.1	+	2	57		c.e2-1			NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	NA					positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TTCTCCTATAGAGATTGTTGA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	52	54			NA	NA	2		NA											NA				79347941		2203	4300	6503	SO:0001630	splice_region_variant				CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386	5967	5967			9951	protein-coding gene	gene with protein product	pancreatic stone protein, pancreatic thread protein	167770	regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)	REG	NA	2332435, 8333731	Standard	NM_002909	NM_002909	NA	Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.-46-1G>A	2.37:g.79347941G>A		NA	P11379	37	CCDS1964.1																																																																																			REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252289.1	Intron	+	ENST00000233735.1	Splice_Site	SNP	2 : 79347941 - 79347941 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	193	8
SLC6A20	54716	broad.mit.edu	37	3	45800611	45800611	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45800611G>A	ENST00000358525.4	-	11	1753	c.1638C>T	c.(1636-1638)ctC>ctT	p.L546L	SLC6A20_ENST00000353278.4_Silent_p.L509L|SLC6A20_ENST00000456124.2_Intron	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	546					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CTTTGGTCACGAGCTGGCCCT	0.622		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	53	52	52		1638,1527	-5.9	0.7	3		52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC6A20	NM_020208.3,NM_022405.3	,	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	,	546/593,509/556	45800611	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817	54716	54716		Solute carriers	30927	protein-coding gene	gene with protein product		605616			NA	9932288, 11352561	Standard	NM_020208	NM_022405	NA	Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.1638C>T	3.37:g.45800611G>A		NA	A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	37	CCDS43077.1																																																																																			SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257318.3		-	ENST00000358525.4	Silent	SNP	3 : 45800611 - 45800611 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	269	56
PIK3C2A	5286	broad.mit.edu	37	11	17150888	17150888	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17150888T>G	ENST00000265970.7	-	12	2357	c.2358A>C	c.(2356-2358)gaA>gaC	p.E786D	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.E406D|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	786					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TGCCCAAAGCTTCTGGTCCCT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	97	95			NA	NA	11		NA											NA				17150888		2200	4293	6493	SO:0001583	missense			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	5286	5286	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	phosphoinositide-3-kinase, class 2, alpha polypeptide		NA	9337861	Standard	NM_002645	NM_002645	NA	Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.2358A>C	11.37:g.17150888T>G	ENSP00000265970:p.Glu786Asp	NA	B0LPH2|Q14CQ9	37	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.025382	0.75390	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.77877	-1.13;-1.13	6.17	5.05	0.67936	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	D	0.83617	0.5293	M	0.70275	2.135	0.54753	D	0.999984	D	0.76494	0.999	D	0.80764	0.994	T	0.81540	-0.0886	10	0.28530	T	0.3	-26.1649	6.5547	0.22454	0.0:0.2214:0.0:0.7786	.	786	O00443	P3C2A_HUMAN	D	786;406	ENSP00000265970:E786D;ENSP00000438687:E406D	ENSP00000265970:E786D	E	-	3	2	PIK3C2A	17107464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.498000	0.45363	2.371000	0.80710	0.533000	0.62120	GAA	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387553.1		-	ENST00000265970.7	Missense_Mutation	SNP	11 : 17150888 - 17150888 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	459	102
DAGLB	221955	broad.mit.edu	37	7	6485682	6485682	+	Translation_Start_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6485682G>T	ENST00000425398.2	-	2	240	c.149C>A	c.(148-150)gCt>gAt	p.A50D	DAGLB_ENST00000436575.1_Missense_Mutation_p.A9D|DAGLB_ENST00000479922.2_5'UTR|DAGLB_ENST00000297056.6_Missense_Mutation_p.A50D|DAGLB_ENST00000428902.2_De_novo_Start_OutOfFrame|DAGLB_ENST00000421761.2_De_novo_Start_OutOfFrame|KDELR2_ENST00000463747.1_5'UTR	NM_001142936.1	NP_001136408.1	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	50					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GGCTCCACCAGCACAGTCCAG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	103	110			NA	NA	7		NA											NA				6485682		2203	4300	6503	SO:0001583	missense			AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	221955	221955	3.1.1.-		28923	protein-coding gene	gene with protein product		614016			NA		Standard	NM_139179	NM_139179	NA	Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000425398.2:c.149C>A	7.37:g.6485682G>T	ENSP00000391171:p.Ala50Asp	NA	A4D2P3|B3KV90|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	37	CCDS47536.1	.	.	.	.	.	.	.	.	.	.	G	7.032	0.560885	0.13498	.	.	ENSG00000164535	ENST00000297056;ENST00000425398;ENST00000436575;ENST00000471132;ENST00000432248	T;T;T	0.42900	1.0;0.96;0.99	4.43	3.52	0.40303	.	0.773939	0.12173	N	0.492814	T	0.29389	0.0732	L	0.42245	1.32	0.09310	N	1	B;B	0.11235	0.0;0.004	B;B	0.06405	0.001;0.002	T	0.21245	-1.0251	10	0.11794	T	0.64	-7.8396	5.8177	0.18506	0.1701:0.0:0.666:0.1639	.	50;50	B4DQU0;Q8NCG7	.;DGLB_HUMAN	D	50;50;9;50;50	ENSP00000297056:A50D;ENSP00000391171:A50D;ENSP00000404785:A9D	ENSP00000297056:A50D	A	-	2	0	DAGLB	6452207	0.109000	0.22037	0.351000	0.25721	0.398000	0.30690	1.387000	0.34430	2.191000	0.70037	0.485000	0.47835	GCT	DAGLB-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341922.1		-	ENST00000425398.2	Missense_Mutation	SNP	7 : 6485682 - 6485682 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	447	101
ZNF512B	57473	broad.mit.edu	37	20	62598231	62598231	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62598231C>A	ENST00000450537.1	-	4	451	c.391G>T	c.(391-393)Ggg>Tgg	p.G131W	ZNF512B_ENST00000217130.3_Missense_Mutation_p.G131W|ZNF512B_ENST00000369888.1_Missense_Mutation_p.G131W			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TCCCTTACCCCTTGGCACCGC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	86	90			NA	NA	20		NA											NA				62598231		2203	4300	6503	SO:0001583	missense			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700	57473	57473			29212	protein-coding gene	gene with protein product					NA	10574462	Standard	NM_020713	NM_020713	NA	Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.391G>T	20.37:g.62598231C>A	ENSP00000393795:p.Gly131Trp	NA	Q08AK9|Q9ULM4	37	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679002	0.88542	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.30714	1.52;1.52;1.52	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.45558	0.1348	L	0.29908	0.895	0.47698	D	0.999499	D	0.89917	1.0	D	0.97110	1.0	T	0.45991	-0.9223	10	0.87932	D	0	-37.8379	17.032	0.86463	0.0:1.0:0.0:0.0	.	131	Q96KM6	Z512B_HUMAN	W	131	ENSP00000358904:G131W;ENSP00000393795:G131W;ENSP00000217130:G131W	ENSP00000217130:G131W	G	-	1	0	ZNF512B	62068675	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.167000	0.77562	2.451000	0.82905	0.585000	0.79938	GGG	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080246.1		-	ENST00000450537.1	Missense_Mutation	SNP	20 : 62598231 - 62598231 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	299	48
TFPI	7035	broad.mit.edu	37	2	188361643	188361643	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:188361643T>G	ENST00000233156.3	-	3	578	c.284A>C	c.(283-285)gAa>gCa	p.E95A	AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000339091.4_Missense_Mutation_p.E95A|TFPI_ENST00000392365.1_Missense_Mutation_p.E95A|TFPI_ENST00000409676.1_Missense_Mutation_p.E95A	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	95	BPTI/Kunitz inhibitor 1.				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	TTCCAGACTTTCAAATCGATT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	80	79			NA	NA	2		NA											NA				188361643		2203	4300	6503	SO:0001583	missense				CCDS2294.1, CCDS33349.1	2q32	2008-06-02			ENSG00000003436	ENSG00000003436	7035	7035			11760	protein-coding gene	gene with protein product	extrinsic pathway inhibitor	152310		LACI	NA	1993173	Standard	NM_006287	XM_005246818	NA	Approved	EPI, TFI, TFPI1	uc002upy.3	P10646	OTTHUMG00000132634	ENST00000233156.3:c.284A>C	2.37:g.188361643T>G	ENSP00000233156:p.Glu95Ala	NA	O95103|Q53TS4	37	CCDS2294.1	.	.	.	.	.	.	.	.	.	.	T	12.96	2.095576	0.36952	.	.	ENSG00000003436	ENST00000392365;ENST00000233156;ENST00000426055;ENST00000435414;ENST00000409676;ENST00000339091;ENST00000437725;ENST00000421427;ENST00000453013	T;T;T;T;T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34	5.62	1.51	0.23008	Proteinase inhibitor I2, Kunitz metazoa (6);Proteinase inhibitor I2, Kunitz, conserved site (1);	1.051830	0.07336	N	0.879995	T	0.44767	0.1309	L	0.44542	1.39	0.09310	N	1	P;B	0.34955	0.477;0.277	B;B	0.37731	0.115;0.257	T	0.29579	-1.0007	10	0.14656	T	0.56	.	9.0121	0.36148	0.5555:0.0:0.0:0.4445	.	95;95	P10646-2;P10646	.;TFPI1_HUMAN	A	95	ENSP00000376172:E95A;ENSP00000233156:E95A;ENSP00000397248:E95A;ENSP00000409177:E95A;ENSP00000386344:E95A;ENSP00000342306:E95A;ENSP00000388159:E95A;ENSP00000408170:E95A;ENSP00000394185:E95A	ENSP00000233156:E95A	E	-	2	0	TFPI	188069888	0.000000	0.05858	0.170000	0.22879	0.926000	0.56050	0.101000	0.15251	0.355000	0.24131	0.477000	0.44152	GAA	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255881.1		-	ENST00000233156.3	Missense_Mutation	SNP	2 : 188361643 - 188361643 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	546	93
NAV2	89797	broad.mit.edu	37	11	19901641	19901641	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:19901641G>T	ENST00000396085.1	+	5	1099	c.738G>T	c.(736-738)caG>caT	p.Q246H	NAV2_ENST00000540292.1_Missense_Mutation_p.Q177H|NAV2_ENST00000527559.2_Missense_Mutation_p.Q175H|NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000349880.4_Missense_Mutation_p.Q246H|NAV2_ENST00000360655.4_Missense_Mutation_p.Q182H|NAV2_ENST00000396087.3_Missense_Mutation_p.Q246H	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	246	Gln-rich.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CGCCACATCAGCAGTCAAAAG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	33	34			NA	NA	11		NA											NA				19901641		2198	4293	6491	SO:0001583	missense			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	89797	89797	3.6.1.1		15997	protein-coding gene	gene with protein product	pore membrane and/or filament interacting like protein 2, retinoic acid inducible gene in neuroblastoma 1, helicase, APC down-regulated 1	607026			NA	12079279, 12062803	Standard	NM_145117	NM_145117	NA	Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396085.1:c.738G>T	11.37:g.19901641G>T	ENSP00000379394:p.Gln246His	NA	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	37	CCDS7851.2	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715084	0.48622	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.28895	1.61;1.71;1.71;1.69;1.59;1.59	5.73	5.73	0.89815	.	0.122438	0.37261	N	0.002163	T	0.21674	0.0522	L	0.36672	1.1	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.09840	-1.0656	9	.	.	.	.	7.7447	0.28862	0.0795:0.0:0.7134:0.2071	.	246;182	Q8IVL1-3;Q8IVL1-4	.;.	H	182;246;246;246;175;177	ENSP00000353871:Q182H;ENSP00000379394:Q246H;ENSP00000309577:Q246H;ENSP00000379396:Q246H;ENSP00000435395:Q175H;ENSP00000443489:Q177H	.	Q	+	3	2	NAV2	19858217	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.358000	0.44134	2.710000	0.92621	0.561000	0.74099	CAG	NAV2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324113.1		+	ENST00000396085.1	Missense_Mutation	SNP	11 : 19901641 - 19901641 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	195	39
CEP112	201134	broad.mit.edu	37	17	64171175	64171175	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:64171175T>C	ENST00000392769.2	-	4	675	c.457A>G	c.(457-459)Act>Gct	p.T153A	CEP112_ENST00000537949.1_Missense_Mutation_p.T153A|CEP112_ENST00000535342.2_Missense_Mutation_p.T153A	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	153						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TAGACATCAGTTGGCGACTGT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	152	157			NA	NA	17		NA											NA				64171175		2203	4300	6503	SO:0001583	missense			AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240	201134	201134			28514	protein-coding gene	gene with protein product			coiled-coil domain containing 46	CCDC46	NA	21399614	Standard	NM_145036	NM_145036	NA	Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.457A>G	17.37:g.64171175T>C	ENSP00000376522:p.Thr153Ala	NA	Q6PIB5|Q8NCR4|Q8NFR4	37	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	T	11.37	1.618009	0.28801	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000537949	T;T;T	0.42131	0.98;0.98;0.98	5.46	-4.45	0.03546	.	1.129780	0.06523	N	0.739957	T	0.22003	0.0530	L	0.34521	1.04	0.09310	N	0.999993	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.27971	-1.0058	10	0.06757	T	0.87	0.0314	3.0536	0.06177	0.0931:0.312:0.2819:0.313	.	153;153	F5GYE8;Q8N8E3	.;CE112_HUMAN	A	153	ENSP00000442784:T153A;ENSP00000376522:T153A;ENSP00000440775:T153A	ENSP00000376522:T153A	T	-	1	0	CEP112	61601637	0.024000	0.19004	0.000000	0.03702	0.687000	0.40016	-0.512000	0.06313	-0.820000	0.04318	-0.321000	0.08615	ACT	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000446582.1		-	ENST00000392769.2	Missense_Mutation	SNP	17 : 64171175 - 64171175 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	473	72
ALG11	440138	broad.mit.edu	37	13	52593140	52593140	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52593140C>A	ENST00000521508.1	+	2	141	c.136C>A	c.(136-138)Cta>Ata	p.L46I	ALG11_ENST00000523764.1_Intron	NM_001004127.2	NP_001004127.2			ALG11, alpha-1,2-mannosyltransferase	NA										endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		CAGACTGCTGCTACAGAGAAA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	146	147			NA	NA	13		NA											NA				52593140		2203	4300	6503	SO:0001583	missense			AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	440138	440138	2.4.1.131	Glycosyltransferase group 1 domain containing	32456	protein-coding gene	gene with protein product	GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase	613666	asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase), asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)		NA	20080937	Standard	NM_001004127	NM_001004127	NA	Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959	ENST00000521508.1:c.136C>A	13.37:g.52593140C>A	ENSP00000430236:p.Leu46Ile	NA		37	CCDS31977.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.276529	0.23307	.	.	ENSG00000253710	ENST00000521508	T	0.77358	-1.09	5.74	4.9	0.64082	.	0.594535	0.15138	U	0.278440	T	0.58075	0.2097	N	0.21545	0.675	0.42626	D	0.993367	B	0.13145	0.007	B	0.14023	0.01	T	0.48875	-0.8996	10	0.06236	T	0.91	.	5.5891	0.17291	0.2614:0.5861:0.0:0.1524	.	46	Q2TAA5	ALG11_HUMAN	I	46	ENSP00000430236:L46I	ENSP00000430236:L46I	L	+	1	2	ALG11	51491141	0.990000	0.36364	0.508000	0.27688	0.860000	0.49131	0.250000	0.18235	1.437000	0.47472	0.643000	0.83706	CTA	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045050.1		+	ENST00000521508.1	Missense_Mutation	SNP	13 : 52593140 - 52593140 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	479	13
RBMS3	27303	broad.mit.edu	37	3	29781263	29781263	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:29781263T>G	ENST00000434693.2	+	5	1149	c.449T>G	c.(448-450)aTg>aGg	p.M150R	RBMS3_ENST00000445033.1_Missense_Mutation_p.M151R|RBMS3_ENST00000456853.1_Missense_Mutation_p.M151R|RBMS3_ENST00000273139.9_Missense_Mutation_p.M151R|RBMS3_ENST00000383767.2_Missense_Mutation_p.M151R|RBMS3_ENST00000396583.3_Missense_Mutation_p.M151R|RBMS3_ENST00000383766.2_Missense_Mutation_p.M150R|RBMS3_ENST00000452462.1_Missense_Mutation_p.M151R	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	151	RRM 2.					cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				CCCATTTCTATGGATGAGCAG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	167	169			NA	NA	3		NA											NA				29781263		2203	4300	6503	SO:0001583	missense			AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642	27303	27303		RNA binding motif (RRM) containing	13427	protein-coding gene	gene with protein product	RNA-binding protein	605786	RNA binding motif, single stranded interacting protein		NA	10675610	Standard	NM_001003792	NM_001003793	NA	Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000434693.2:c.449T>G	3.37:g.29781263T>G	ENSP00000395592:p.Met150Arg	NA	B7ZL17|O75876|Q17RI0|Q6XE23	37		.	.	.	.	.	.	.	.	.	.	T	24.9	4.578634	0.86645	.	.	ENSG00000144642	ENST00000434693;ENST00000396583;ENST00000383767;ENST00000445033;ENST00000273139;ENST00000383766;ENST00000452462;ENST00000456853	T;T;T;T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32	5.52	5.52	0.82312	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.48537	0.1505	M	0.88979	2.995	0.80722	D	1	D;P;D;D	0.59767	0.982;0.906;0.982;0.986	D;P;D;D	0.70935	0.927;0.888;0.927;0.971	T	0.57069	-0.7874	9	.	.	.	.	15.6346	0.76941	0.0:0.0:0.0:1.0	.	151;151;150;151	G5E9J9;Q6XE24-2;Q6XE24-3;Q6XE24	.;.;.;RBMS3_HUMAN	R	150;151;151;151;151;150;151;151	ENSP00000395592:M150R;ENSP00000379828:M151R;ENSP00000373277:M151R;ENSP00000391934:M151R;ENSP00000273139:M151R;ENSP00000373276:M150R;ENSP00000397926:M151R;ENSP00000400519:M151R	.	M	+	2	0	RBMS3	29756267	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.029000	0.88807	2.093000	0.63338	0.460000	0.39030	ATG	RBMS3-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000341298.4		+	ENST00000434693.2	Missense_Mutation	SNP	3 : 29781263 - 29781263 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	883	193
PABPN1	8106	broad.mit.edu	37	14	23793419	23793419	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23793419G>A	ENST00000397276.2	+	6	815	c.802G>A	c.(802-804)Gcc>Acc	p.A268T	BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.A295T|PABPN1_ENST00000216727.4_Missense_Mutation_p.A268T|PABPN1_ENST00000556821.1_Missense_Mutation_p.A140T|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.A295T|PABPN1_ENST00000557702.1_Missense_Mutation_p.A140T					poly(A) binding protein, nuclear 1	NA										large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CCGCTACCGCGCCCGGACCAC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	78	78			NA	NA	14		NA											NA				23793419		2203	4300	6503	SO:0001583	missense			AF026029	CCDS9592.1	14q11.2	2013-02-12	2001-11-28		ENSG00000100836	ENSG00000100836	8106	8106		RNA binding motif (RRM) containing	8565	protein-coding gene	gene with protein product		602279	poly(A)-binding protein, nuclear 1	OPMD, PABP2	NA	7795598	Standard	NM_004643	NM_004643	NA	Approved	PAB2		Q86U42	OTTHUMG00000028739	ENST00000397276.2:c.802G>A	14.37:g.23793419G>A	ENSP00000380446:p.Ala268Thr	NA		37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.34|15.34	2.804591|2.804591	0.50315|0.50315	.|.	.|.	ENSG00000258643;ENSG00000258643;ENSG00000100836;ENSG00000100836;ENSG00000100836;ENSG00000100836|ENSG00000100836	ENST00000553781;ENST00000557008;ENST00000216727;ENST00000397276;ENST00000556821;ENST00000557702|ENST00000555295	T;T;T;T;T;T|T	0.74315|0.75367	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83|-0.93	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.063724|.	0.64402|.	D|.	0.000006|.	T|T	0.76378|0.76378	0.3979|0.3979	L|L	0.39898|0.39898	1.24|1.24	0.35639|0.35639	D|D	0.810858|0.810858	B;P;B|.	0.41265|.	0.099;0.744;0.395|.	B;B;B|.	0.34590|.	0.018;0.186;0.18|.	T|T	0.78432|0.78432	-0.2206|-0.2206	10|6	0.33141|.	T|.	0.24|.	-7.9693|-7.9693	18.1036|18.1036	0.89513|0.89513	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	268;268;295|.	Q86U42;Q86U42-2;G3V5R7|.	PABP2_HUMAN;.;.|.	T|H	295;295;268;268;140;140|67	ENSP00000451320:A295T;ENSP00000452479:A295T;ENSP00000216727:A268T;ENSP00000380446:A268T;ENSP00000451970:A140T;ENSP00000450724:A140T|ENSP00000451592:R67H	ENSP00000216727:A268T|.	A|R	+|+	1|2	0|0	PABPN1;RP11-124D2.2|PABPN1	22863259|22863259	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	5.232000|5.232000	0.65332|0.65332	2.581000|2.581000	0.87130|0.87130	0.655000|0.655000	0.94253|0.94253	GCC|CGC	PABPN1-003	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000071766.4		+	ENST00000397276.2	Missense_Mutation	SNP	14 : 23793419 - 23793419 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	574	29
STK25	10494	broad.mit.edu	37	2	242441007	242441007	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242441007C>T	ENST00000316586.4	-	3	496	c.147G>A	c.(145-147)aaG>aaA	p.K49K	STK25_ENST00000405883.3_Intron|STK25_ENST00000405585.1_Intron|STK25_ENST00000403346.3_Silent_p.K49K|STK25_ENST00000535007.1_5'UTR|STK25_ENST00000401869.1_Silent_p.K49K|STK25_ENST00000543554.1_5'UTR	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	49	Protein kinase.				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GGTCGATGATCTTGATGGCCA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(99;1100 1566 7679 28647 48345)							NA				0													220	159	180			NA	NA	2		NA											NA				242441007		2203	4300	6503	SO:0001819	synonymous_variant			D63780	CCDS2549.1, CCDS63199.1, CCDS63200.1	2q37.3	2010-06-25	2010-06-25		ENSG00000115694	ENSG00000115694	10494	10494			11404	protein-coding gene	gene with protein product		602255	serine/threonine kinase 25 (Ste20, yeast homolog)		NA	8887545, 9160885, 15037601	Standard	NM_006374	NM_001271977	NA	Approved	SOK1, YSK1	uc002wbp.4	O00506	OTTHUMG00000133408	ENST00000316586.4:c.147G>A	2.37:g.242441007C>T		NA	A8K7D2|Q15522|Q5BJF1	37	CCDS2549.1																																																																																			STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257265.4		-	ENST00000316586.4	Silent	SNP	2 : 242441007 - 242441007 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	455	88
PEX1	5189	broad.mit.edu	37	7	92119135	92119135	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92119135A>G	ENST00000428214.1	-	21	3357	c.3358T>C	c.(3358-3360)Tta>Cta	p.L1120L	PEX1_ENST00000438045.1_Silent_p.L855L|PEX1_ENST00000248633.4_Silent_p.L1177L|AC007566.10_ENST00000427458.1_RNA	NM_001282677.1	NP_001269606.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	1177					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GCTGTCCTTAACACTGGAGGC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	116	123			NA	NA	7		NA											NA				92119135		2203	4300	6503	SO:0001819	synonymous_variant			AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980	5189	5189		ATPases / AAA-type	8850	protein-coding gene	gene with protein product		602136	peroxisome biogenesis factor 1, Zellweger syndrome 1, Zellweger syndrome	ZWS1, ZWS	NA	9398848	Standard	NM_000466	NM_001282677	NA	Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000428214.1:c.3358T>C	7.37:g.92119135A>G		NA	A4D1G3|A8KA90|Q96S71|Q96S72|Q96S73|Q99994	37	CCDS5627.1																																																																																			PEX1-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342659.1		-	ENST00000428214.1	Silent	SNP	7 : 92119135 - 92119135 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	74
DNM1L	10059	broad.mit.edu	37	12	32884840	32884840	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32884840G>A	ENST00000452533.2	+	12	1573	c.1409G>A	c.(1408-1410)tGt>tAt	p.C470Y	DNM1L_ENST00000414834.2_Missense_Mutation_p.C267Y|DNM1L_ENST00000547312.1_Missense_Mutation_p.C470Y|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000553257.1_Missense_Mutation_p.C483Y|DNM1L_ENST00000381000.4_Missense_Mutation_p.C483Y|DNM1L_ENST00000358214.5_Missense_Mutation_p.C483Y|DNM1L_ENST00000266481.6_Missense_Mutation_p.C470Y|DNM1L_ENST00000549701.1_Missense_Mutation_p.C470Y	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	470	Interaction with GSK3B.|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)					GTGGTGACTTGTCTTCTTCGT	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	152	158			NA	NA	12		NA											NA				32884840		2203	4300	6503	SO:0001583	missense			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.1409G>A	12.37:g.32884840G>A	ENSP00000415131:p.Cys470Tyr	NA	A8K4X9|B4DSU8|O14541|O60709|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	37	CCDS8730.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843653	0.51164	.	.	ENSG00000087470	ENST00000452533;ENST00000411996;ENST00000266479;ENST00000553257;ENST00000549701;ENST00000358214;ENST00000266481;ENST00000547312;ENST00000414834;ENST00000381000	T;T;T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	4.98	4.98	0.66077	Dynamin central domain (1);	0.152770	0.64402	D	0.000010	T	0.63628	0.2527	N	0.08118	0	0.80722	D	1	D;B;B;B;B;B	0.55172	0.97;0.089;0.089;0.122;0.089;0.037	P;B;B;B;B;B	0.51229	0.663;0.041;0.266;0.033;0.041;0.18	T	0.72597	-0.4245	10	0.66056	D	0.02	.	18.6016	0.91249	0.0:0.0:1.0:0.0	.	267;523;523;536;523;470	B4DGC9;D3DUW6;D3DUW5;F8W8D1;D3DUW7;O00429	.;.;.;.;.;DNM1L_HUMAN	Y	470;536;470;483;470;483;470;470;267;483	ENSP00000415131:C470Y;ENSP00000449089:C483Y;ENSP00000450399:C470Y;ENSP00000350948:C483Y;ENSP00000266481:C470Y;ENSP00000448610:C470Y;ENSP00000404160:C267Y;ENSP00000370388:C483Y	ENSP00000266479:C470Y	C	+	2	0	DNM1L	32776107	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.314000	0.65804	2.468000	0.83385	0.655000	0.94253	TGT	DNM1L-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404122.1		+	ENST00000452533.2	Missense_Mutation	SNP	12 : 32884840 - 32884840 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	400	69
ABCB10	23456	broad.mit.edu	37	1	229675332	229675332	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229675332G>T	ENST00000344517.4	-	6	1252	c.1210C>A	c.(1210-1212)Ctc>Atc	p.L404I		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	404	ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				TTTCCGGAGAGCCCAGTCTGT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	60	60			NA	NA	1		NA											NA				229675332		2203	4300	6503	SO:0001583	missense			U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776	23456	23456		ATP binding cassette transporters / subfamily B	41	protein-coding gene	gene with protein product	ATP-binding cassette sub-family B member 10, mitochondrial, ATP-binding cassette transporter 10, ABC transporter 10 protein, mitochondrial ATP-binding cassette 2	605454			NA	7766993	Standard	NM_012089	NM_012089	NA	Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.1210C>A	1.37:g.229675332G>T	ENSP00000355637:p.Leu404Ile	NA	Q13040|Q6P1Q8|Q9H3V0	37	CCDS1580.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211720	0.79240	.	.	ENSG00000135776	ENST00000344517	D	0.90900	-2.75	5.25	5.25	0.73442	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.89532	0.6742	L	0.45698	1.435	0.80722	D	1	B	0.09022	0.002	B	0.31290	0.127	D	0.84821	0.0796	10	0.32370	T	0.25	-23.9756	19.2149	0.93772	0.0:0.0:1.0:0.0	.	404	Q9NRK6	ABCBA_HUMAN	I	404	ENSP00000355637:L404I	ENSP00000355637:L404I	L	-	1	0	ABCB10	227741955	1.000000	0.71417	0.992000	0.48379	0.594000	0.36715	6.055000	0.71103	2.619000	0.88677	0.655000	0.94253	CTC	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095240.1		-	ENST00000344517.4	Missense_Mutation	SNP	1 : 229675332 - 229675332 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	443	66
AC007401.2	0	broad.mit.edu	37	2	36771593	36771593	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:36771593C>T	ENST00000406220.1	-	1	213				CRIM1_ENST00000280527.2_Missense_Mutation_p.P900S						NA											NA						CCTGGAGGTTCCCCTGTGGCC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	125	127			NA	NA	2		NA											NA				36771593		2203	4300	6503	SO:0001627	intron_variant											NA	NA			NA							NA					NA						ENST00000406220.1:c.64+7605G>A	2.37:g.36771593C>T		NA		37		.	.	.	.	.	.	.	.	.	.	C	22.2	4.258645	0.80246	.	.	ENSG00000150938	ENST00000280527	T	0.07114	3.22	5.77	5.77	0.91146	.	0.117723	0.56097	D	0.000021	T	0.19327	0.0464	L	0.29908	0.895	0.58432	D	0.999995	D	0.89917	1.0	D	0.83275	0.996	T	0.04360	-1.0957	10	0.22706	T	0.39	-15.3866	19.0471	0.93025	0.0:1.0:0.0:0.0	.	900	Q9NZV1	CRIM1_HUMAN	S	900	ENSP00000280527:P900S	ENSP00000280527:P900S	P	+	1	0	CRIM1	36625097	0.947000	0.32204	0.705000	0.30386	0.582000	0.36321	3.191000	0.50981	2.732000	0.93576	0.650000	0.86243	CCC	AC007401.2-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000325456.1		-	ENST00000406220.1	Intron	SNP	2 : 36771593 - 36771593 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	372	82
EXOC2	55770	broad.mit.edu	37	6	532557	532557	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:532557G>A	ENST00000230449.4	-	23	2427	c.2292C>T	c.(2290-2292)atC>atT	p.I764I	EXOC2_ENST00000448181.3_Silent_p.I359I	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	764					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CTTTCAACTCGATGTAATTTT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	118	119			NA	NA	6		NA											NA				532557		2203	4300	6503	SO:0001819	synonymous_variant			AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685	55770	55770			24968	protein-coding gene	gene with protein product		615329	SEC5-like 1 (S. cerevisiae)	SEC5L1	NA	12575951, 12459492	Standard	NM_018303	NM_018303	NA	Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.2292C>T	6.37:g.532557G>A		NA	Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	37	CCDS34327.1																																																																																			EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039627.1		-	ENST00000230449.4	Silent	SNP	6 : 532557 - 532557 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	420	72
KRT12	3859	broad.mit.edu	37	17	39019556	39019556	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39019556C>T	ENST00000251643.4	-	6	1158	c.1135G>A	c.(1135-1137)Gat>Aat	p.D379N		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	379	Coil 2.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				GCGCAGTAATCGCCCTCGGCT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	19	20			NA	NA	17		NA											NA				39019556		2200	4290	6490	SO:0001583	missense				CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242	3859	3859		-, Intermediate filaments type I, keratins (acidic)	6414	protein-coding gene	gene with protein product	Meesmann corneal dystrophy	601687			NA	9171831, 16831889	Standard	NM_000223	NM_000223	NA	Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.1135G>A	17.37:g.39019556C>T	ENSP00000251643:p.Asp379Asn	NA	B2R9E0	37	CCDS11378.1	.	.	.	.	.	.	.	.	.	.	C	8.234	0.805382	0.16467	.	.	ENSG00000187242	ENST00000251643	D	0.88509	-2.39	5.05	4.06	0.47325	Filament (1);	0.524332	0.17399	N	0.175640	T	0.70745	0.3259	N	0.02412	-0.56	0.09310	N	1	P	0.36249	0.545	B	0.24701	0.055	T	0.60203	-0.7309	10	0.21014	T	0.42	.	14.833	0.70162	0.0:0.5953:0.4047:0.0	.	379	Q99456	K1C12_HUMAN	N	379	ENSP00000251643:D379N	ENSP00000251643:D379N	D	-	1	0	KRT12	36273082	0.006000	0.16342	0.348000	0.25681	0.961000	0.63080	0.930000	0.28858	1.328000	0.45358	0.491000	0.48974	GAT	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257214.2		-	ENST00000251643.4	Missense_Mutation	SNP	17 : 39019556 - 39019556 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	169	23
SFMBT2	57713	broad.mit.edu	37	10	7285598	7285598	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7285598G>T	ENST00000361972.4	-	9	1132	c.1042C>A	c.(1042-1044)Ctg>Atg	p.L348M	SFMBT2_ENST00000397167.1_Missense_Mutation_p.L348M	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	348					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GCATGGCACAGCATTGACAGT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	82	84			NA	NA	10		NA											NA				7285598		2203	4300	6503	SO:0001583	missense			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879	57713	57713		Sterile alpha motif (SAM) domain containing	20256	protein-coding gene	gene with protein product		615392	Scm-related gene containing four mbt domains 2		NA	10997877	Standard	NM_001029880	NM_001029880	NA	Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1042C>A	10.37:g.7285598G>T	ENSP00000355109:p.Leu348Met	NA	A7MD09|Q9HCF5	37	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470197	0.43839	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.33216	1.42;1.42	5.54	2.55	0.30701	.	0.065062	0.64402	D	0.000007	T	0.50360	0.1611	M	0.78456	2.415	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.42749	-0.9433	10	0.51188	T	0.08	.	7.4248	0.27092	0.1495:0.0:0.7159:0.1346	.	348	Q5VUG0	SMBT2_HUMAN	M	348	ENSP00000355109:L348M;ENSP00000380353:L348M	ENSP00000355109:L348M	L	-	1	2	SFMBT2	7325604	1.000000	0.71417	0.994000	0.49952	0.292000	0.27327	2.717000	0.47227	0.323000	0.23307	0.655000	0.94253	CTG	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046673.1		-	ENST00000361972.4	Missense_Mutation	SNP	10 : 7285598 - 7285598 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	355	62
TGFBR1	7046	broad.mit.edu	37	9	101904853	101904853	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101904853G>A	ENST00000374994.4	+	5	958	c.841G>A	c.(841-843)Gat>Aat	p.D281N	TGFBR1_ENST00000374990.2_Missense_Mutation_p.D204N|TGFBR1_ENST00000550253.1_Missense_Mutation_p.D212N|TGFBR1_ENST00000552516.1_Missense_Mutation_p.D285N	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	281	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GTTGGTGTCAGATTATCATGA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													197	169	179			NA	NA	9		NA											NA				101904853		2203	4300	6503	SO:0001583	missense				CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799	7046	7046			11772	protein-coding gene	gene with protein product	activin A receptor type II-like kinase, 53kDa	190181	transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD), multiple self-healing squamous epithelioma	MSSE, ESS1	NA	1319842, 8530052, 21358634	Standard		NM_001130916	NA	Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.841G>A	9.37:g.101904853G>A	ENSP00000364133:p.Asp281Asn	NA	Q6IR47|Q706C0|Q706C1	37	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	G	36	5.598606	0.96614	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000550253	D;D;D;D	0.93906	-3.31;-3.31;-3.31;-3.31	5.87	5.87	0.94306	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97601	0.9214	H	0.94222	3.51	0.80722	D	1	D;D	0.64830	0.994;0.988	P;P	0.62740	0.906;0.866	D	0.98016	1.0368	10	0.87932	D	0	.	19.3531	0.94398	0.0:0.0:1.0:0.0	.	204;281	P36897-3;P36897	.;TGFR1_HUMAN	N	281;281;204;285;212	ENSP00000364133:D281N;ENSP00000364129:D204N;ENSP00000447297:D285N;ENSP00000450052:D212N	ENSP00000364129:D204N	D	+	1	0	TGFBR1	100944674	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.755000	0.98912	2.941000	0.99782	0.655000	0.94253	GAT	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053390.3		+	ENST00000374994.4	Missense_Mutation	SNP	9 : 101904853 - 101904853 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	530	46
NYAP2	57624	broad.mit.edu	37	2	226447226	226447226	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:226447226G>A	ENST00000272907.6	+	4	1506	c.1093G>A	c.(1093-1095)Gtg>Atg	p.V365M	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	365	Pro-rich.										NA						GAAGCTTCCCGTGCTGGAAAA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	20	19			NA	NA	2		NA											NA				226447226		1964	4133	6097	SO:0001583	missense			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460	57624	57624			29291	protein-coding gene	gene with protein product		615478	KIAA1486	KIAA1486	NA	10819331, 21946561	Standard	NM_020864	NM_020864	NA	Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1093G>A	2.37:g.226447226G>A	ENSP00000272907:p.Val365Met	NA	A2RRN4|Q96NL2	37	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	G	9.902	1.207181	0.22205	.	.	ENSG00000144460	ENST00000272907	T	0.55930	0.49	5.06	4.17	0.49024	.	0.117306	0.56097	D	0.000021	T	0.69602	0.3129	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70684	-0.4804	10	0.45353	T	0.12	-24.1752	14.832	0.70156	0.0:0.0:0.8549:0.1451	.	365	Q9P242	K1486_HUMAN	M	365	ENSP00000272907:V365M	ENSP00000272907:V365M	V	+	1	0	KIAA1486	226155470	1.000000	0.71417	0.646000	0.29493	0.311000	0.27955	5.979000	0.70508	1.108000	0.41662	-0.188000	0.12872	GTG	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331258.1		+	ENST00000272907.6	Missense_Mutation	SNP	2 : 226447226 - 226447226 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	147	25
ATP10A	57194	broad.mit.edu	37	15	25963453	25963453	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25963453C>T	ENST00000356865.6	-	8	1568	c.1457G>A	c.(1456-1458)aGc>aAc	p.S486N		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	486					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ACTCTGGTGGCTGCCGATGCT	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	26	26			NA	NA	15		NA											NA				25963453		2198	4299	6497	SO:0001583	missense			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190	57194	57194		ATPases / P-type	13542	protein-coding gene	gene with protein product		605855	ATPase, Class V, type 10C, ATPase, Class V, type 10A	ATP10C	NA	11015572, 9628581	Standard	NM_024490	NM_024490	NA	Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1457G>A	15.37:g.25963453C>T	ENSP00000349325:p.Ser486Asn	NA	Q969I4	37	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021428	0.75275	.	.	ENSG00000206190	ENST00000356865	T	0.11063	2.81	5.14	5.14	0.70334	HAD-like domain (1);	0.133177	0.64402	D	0.000002	T	0.22282	0.0537	L	0.43757	1.38	0.50313	D	0.999866	P	0.41188	0.741	P	0.53809	0.735	T	0.00636	-1.1633	10	0.33940	T	0.23	-23.9993	18.6071	0.91271	0.0:1.0:0.0:0.0	.	486	O60312	AT10A_HUMAN	N	486	ENSP00000349325:S486N	ENSP00000349325:S486N	S	-	2	0	ATP10A	23514546	1.000000	0.71417	0.996000	0.52242	0.804000	0.45430	5.742000	0.68646	2.382000	0.81193	0.655000	0.94253	AGC	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414830.1		-	ENST00000356865.6	Missense_Mutation	SNP	15 : 25963453 - 25963453 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	185	31
CHST15	51363	broad.mit.edu	37	10	125804230	125804230	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:125804230C>T	ENST00000346248.5	-	3	1394	c.752G>A	c.(751-753)cGc>cAc	p.R251H	CHST15_ENST00000435907.1_Missense_Mutation_p.R251H|CHST15_ENST00000421115.1_Missense_Mutation_p.R251H	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	251					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CGGCAGGCAGCGCAGGCGGAA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	50	50			NA	NA	10		NA											NA				125804230		2203	4300	6503	SO:0001583	missense			AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	51363	51363	2.8.2.33	Sulfotransferases, membrane-bound	18137	protein-coding gene	gene with protein product	B cell RAG associated protein, N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase	608277			NA	9628581, 9754571, 11572857	Standard	NM_015892	NM_014863	NA	Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.752G>A	10.37:g.125804230C>T	ENSP00000333947:p.Arg251His	NA	O60338|O60474|Q86VM4	37	CCDS7638.1	.	.	.	.	.	.	.	.	.	.	C	35	5.551568	0.96501	.	.	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000546346;ENST00000421115	T;T;T	0.56103	0.48;0.48;0.48	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.72153	0.3425	M	0.65677	2.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	T	0.74150	-0.3758	10	0.87932	D	0	-33.2708	17.9025	0.88909	0.0:1.0:0.0:0.0	.	251;251	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	H	251	ENSP00000333947:R251H;ENSP00000402394:R251H;ENSP00000412477:R251H	ENSP00000333947:R251H	R	-	2	0	CHST15	125794220	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.496000	0.81526	2.648000	0.89879	0.655000	0.94253	CGC	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050856.1		-	ENST00000346248.5	Missense_Mutation	SNP	10 : 125804230 - 125804230 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	236	52
C1orf100	200159	broad.mit.edu	37	1	244541861	244541861	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:244541861G>A	ENST00000308105.4	+	4	358	c.245G>A	c.(244-246)cGa>cAa	p.R82Q	RP11-518L10.5_ENST00000417765.1_RNA|C1orf100_ENST00000470211.1_3'UTR|C1orf100_ENST00000366537.1_Intron	NM_001012970.1	NP_001012988.1	Q5SVJ3	CA100_HUMAN	chromosome 1 open reading frame 100	82										endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)	7	all_cancers(71;3.94e-05)|all_epithelial(71;0.000138)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|all_lung(81;0.0736)|Ovarian(71;0.0761)|Lung NSC(105;0.103)		all cancers(7;8.19e-08)|GBM - Glioblastoma multiforme(7;2.05e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.000984)			ATTTGTCTTCGAAGACATTCA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	87	90			NA	NA	1		NA											NA				244541861		2203	4300	6503	SO:0001583	missense			BC054479	CCDS31079.1, CCDS60465.1	1q44	2008-02-05			ENSG00000173728	ENSG00000173728	200159	200159			30435	protein-coding gene	gene with protein product					NA		Standard	NM_001012970	NM_001276348	NA	Approved		uc001iah.4	Q5SVJ3	OTTHUMG00000040104	ENST00000308105.4:c.245G>A	1.37:g.244541861G>A	ENSP00000311218:p.Arg82Gln	NA	Q5SVJ4	37	CCDS31079.1	.	.	.	.	.	.	.	.	.	.	G	2.361	-0.346551	0.05208	.	.	ENSG00000173728	ENST00000308105	.	.	.	4.82	-2.76	0.05896	.	1.227560	0.05812	N	0.614118	T	0.32102	0.0818	L	0.38531	1.155	0.09310	N	0.999999	B	0.24132	0.098	B	0.18871	0.023	T	0.30001	-0.9993	9	0.45353	T	0.12	-20.2467	9.9351	0.41545	0.6064:0.0:0.3936:0.0	.	82	Q5SVJ3	CA100_HUMAN	Q	82	.	ENSP00000311218:R82Q	R	+	2	0	C1orf100	242608484	0.000000	0.05858	0.007000	0.13788	0.016000	0.09150	-1.933000	0.01553	-0.827000	0.04278	-0.140000	0.14226	CGA	C1orf100-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096712.1		+	ENST00000308105.4	Missense_Mutation	SNP	1 : 244541861 - 244541861 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	417	44
ARMC12	221481	broad.mit.edu	37	6	35705130	35705130	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35705130G>A	ENST00000288065.2	+	1	271		c.e1+1		ARMC12_ENST00000373869.3_Intron|ARMC12_ENST00000373866.3_Intron	NM_145028.3	NP_659465.2	Q5T9G4	CF081_HUMAN	armadillo repeat containing 12	NA							binding				NA						GGGCCCAAAGGTGATGCCTCC	0.622		NA									OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	48	47			NA	NA	6		NA											NA				35705130		2203	4300	6503	SO:0001630	splice_region_variant			AK058119	CCDS4809.1, CCDS69093.1, CCDS69094.1	6p21.31	2013-02-14	2011-12-14	2011-12-14	ENSG00000157343	ENSG00000157343	221481	221481		Armadillo repeat containing	21099	protein-coding gene	gene with protein product			chromosome 6 open reading frame 81	C6orf81	NA		Standard	NM_145028	XM_005248920	NA	Approved	FLJ25390	uc003ola.3	Q5T9G4	OTTHUMG00000014577	ENST00000288065.2:c.244+1G>A	6.37:g.35705130G>A		857	Q8NEB2|Q96LL8	37	CCDS4809.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.900133	0.52227	.	.	ENSG00000157343	ENST00000288065	.	.	.	4.35	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2768	0.54739	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C6orf81	35813108	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	2.670000	0.46833	2.270000	0.75569	0.456000	0.33151	.	ARMC12-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355818.1	Intron	+	ENST00000288065.2	Splice_Site	SNP	6 : 35705130 - 35705130 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	333	34
NRG1	3084	broad.mit.edu	37	8	32621526	32621526	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:32621526A>G	ENST00000287842.3	+	12	1980	c.1520A>G	c.(1519-1521)aAc>aGc	p.N507S	NRG1_ENST00000405005.3_Missense_Mutation_p.N510S|NRG1_ENST00000519301.1_Missense_Mutation_p.N460S|NRG1_ENST00000287845.5_Missense_Mutation_p.N481S|NRG1_ENST00000338921.4_Missense_Mutation_p.N518S|NRG1_ENST00000539990.1_Missense_Mutation_p.N353S|NRG1_ENST00000356819.4_Missense_Mutation_p.N515S|NRG1_ENST00000341377.5_3'UTR	NM_001160004.1|NM_013957.3	NP_001153476.1|NP_039251.2	Q02297	NRG1_HUMAN	neuregulin 1	510					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CATGACAGTAACAGCCTCCCT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	76	82			NA	NA	8		NA											NA				32621526		2203	4300	6503	SO:0001583	missense			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168	3084	3084		Immunoglobulin superfamily / I-set domain containing	7997	protein-coding gene	gene with protein product		142445	NRG1 intronic transcript 2 (non-protein coding)	HGL, NRG1-IT2	NA	1350381, 8095334	Standard		NM_013962	NA	Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000287842.3:c.1520A>G	8.37:g.32621526A>G	ENSP00000287842:p.Asn507Ser	NA	A5YAK4|A5YAK5|A8K1L2|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	37	CCDS6084.1	.	.	.	.	.	.	.	.	.	.	A	1.875	-0.459402	0.04508	.	.	ENSG00000157168	ENST00000518104;ENST00000519301;ENST00000523534;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000539990	T;T;T;T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.75	-2.42	0.06542	Neuregulin 1-related, C-terminal (1);	0.466636	0.25130	N	0.032920	T	0.24547	0.0595	N	0.19112	0.55	0.27175	N	0.960821	B;B;B;B;B;B;B	0.13594	0.002;0.008;0.005;0.0;0.008;0.002;0.004	B;B;B;B;B;B;B	0.23150	0.007;0.009;0.029;0.001;0.017;0.044;0.017	T	0.31833	-0.9929	10	0.08837	T	0.75	-4.7042	9.1717	0.37086	0.4312:0.117:0.4519:0.0	.	353;481;515;518;507;510;515	B7Z1E3;F8W9E3;Q7RTW4;Q02297-2;Q02297-7;Q02297;Q02297-6	.;.;.;.;.;NRG1_HUMAN;.	S	477;460;583;518;515;510;481;507;510;353	ENSP00000430053:N477S;ENSP00000429582:N460S;ENSP00000429067:N583S;ENSP00000343395:N518S;ENSP00000349275:N515S;ENSP00000287840:N510S;ENSP00000287845:N481S;ENSP00000287842:N507S;ENSP00000384620:N510S;ENSP00000439276:N353S	ENSP00000287840:N510S	N	+	2	0	NRG1	32741068	1.000000	0.71417	0.525000	0.27900	0.036000	0.12997	0.832000	0.27490	-0.673000	0.05259	-0.475000	0.04921	AAC	NRG1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376467.1		+	ENST00000287842.3	Missense_Mutation	SNP	8 : 32621526 - 32621526 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	41
EPHB4	2050	broad.mit.edu	37	7	100421510	100421510	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100421510C>T	ENST00000358173.3	-	3	635	c.167G>A	c.(166-168)cGc>cAc	p.R56H	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.R56H	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	56					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TTCGTAGGTGCGCACGCTGTG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(200;2113 3072 25865 52728)							NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411	2050	2050		EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3395	protein-coding gene	gene with protein product		600011	EphB4	HTK	NA	8188704	Standard	NM_004444	NM_004444	NA	Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.167G>A	7.37:g.100421510C>T	ENSP00000350896:p.Arg56His	NA	Q9BTA5|Q9BXP0	37	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	c	22.2	4.261777	0.80358	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.12465	2.68;2.68	4.93	4.93	0.64822	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.50627	D	0.000108	T	0.29914	0.0748	L	0.46947	1.48	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0	T	0.00849	-1.1541	10	0.28530	T	0.3	.	15.9831	0.80127	0.0:1.0:0.0:0.0	.	56;56;56;56;56	B5A972;B5A971;B5A970;Q96L35;P54760	.;.;.;.;EPHB4_HUMAN	H	56	ENSP00000353833:R56H;ENSP00000350896:R56H	ENSP00000350896:R56H	R	-	2	0	EPHB4	100259446	1.000000	0.71417	0.990000	0.47175	0.804000	0.45430	7.763000	0.85283	2.452000	0.82932	0.556000	0.70494	CGC	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347222.1		-	ENST00000358173.3	Missense_Mutation	SNP	7 : 100421510 - 100421510 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	109	13
CNGB1	1258	broad.mit.edu	37	16	57957180	57957180	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57957180G>T	ENST00000564448.1	-	18	1682	c.1622C>A	c.(1621-1623)aCt>aAt	p.T541N	CNGB1_ENST00000251102.8_Missense_Mutation_p.T547N			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	547					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GTCTCACTCAGTGTCCTTCGG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(156;1293 1853 16336 28962 38659)							NA				0													49	51	50			NA	NA	16		NA											NA				57957180		1885	4109	5994	SO:0001583	missense			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729	1258	1258		Voltage-gated ion channels / Cyclic nucleotide-regulated channels	2151	protein-coding gene	gene with protein product	glutamic acid-rich protein	600724		CNCG2, CNCG3L	NA	8766832, 7590744, 16382102	Standard	NM_001297	NM_001297	NA	Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000564448.1:c.1622C>A	16.37:g.57957180G>T	ENSP00000454633:p.Thr541Asn	NA	O43636|Q13059|Q14029|Q9UMG2	37		.	.	.	.	.	.	.	.	.	.	G	14.98	2.697899	0.48307	.	.	ENSG00000070729	ENST00000251102	T	0.29397	1.57	4.97	1.69	0.24217	.	0.655524	0.13615	N	0.374836	T	0.34048	0.0884	L	0.57536	1.79	0.09310	N	0.999999	D	0.58970	0.984	P	0.52672	0.706	T	0.12451	-1.0547	10	0.27785	T	0.31	.	3.9819	0.09498	0.1996:0.0:0.6032:0.1972	.	547	Q14028	CNGB1_HUMAN	N	547	ENSP00000251102:T547N	ENSP00000251102:T547N	T	-	2	0	CNGB1	56514681	0.012000	0.17670	0.616000	0.29078	0.522000	0.34438	1.527000	0.35975	0.681000	0.31386	0.655000	0.94253	ACT	CNGB1-003	NOVEL	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000432160.1		-	ENST00000564448.1	Missense_Mutation	SNP	16 : 57957180 - 57957180 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	307	40
HIST1H4D	8360	broad.mit.edu	37	6	26189278	26189278	+	Missense_Mutation	SNP	C	C	A	rs142303259		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26189278C>A	ENST00000340756.2	-	1	26	c.27G>T	c.(25-27)aaG>aaT	p.K9N		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	9					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				TACCTAGACCCTTTCCGCCCT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	58	57			NA	NA	6		NA											NA				26189278		2203	4300	6503	SO:0001583	missense			X60482	CCDS4589.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000188987	ENSG00000277157	8360	8360		Histones / Replication-dependent	4782	protein-coding gene	gene with protein product		602823	H4 histone family, member B, histone 1, H4d	H4FB	NA	9119399, 12408966	Standard	NM_003539	NM_003539	NA	Approved	H4/b	uc003ngu.3	P62805	OTTHUMG00000014423	ENST00000340756.2:c.27G>T	6.37:g.26189278C>A	ENSP00000343282:p.Lys9Asn	NA	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	37	CCDS4589.1	.	.	.	.	.	.	.	.	.	.	.	10.49	1.363931	0.24684	.	.	ENSG00000188987	ENST00000340756	.	.	.	5.32	2.23	0.28157	.	0.000000	0.85682	D	0.000000	T	0.51227	0.1662	.	.	.	0.34101	D	0.66189	.	.	.	.	.	.	T	0.56456	-0.7976	6	0.87932	D	0	.	10.6325	0.45545	0.0:0.8096:0.0:0.1904	.	.	.	.	N	9	.	ENSP00000343282:K9N	K	-	3	2	HIST1H4D	26297257	0.016000	0.18221	0.761000	0.31378	0.007000	0.05969	-0.857000	0.04286	0.127000	0.18452	-0.145000	0.13849	AAG	HIST1H4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040085.1		-	ENST00000340756.2	Missense_Mutation	SNP	6 : 26189278 - 26189278 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	583	75
PAMR1	25891	broad.mit.edu	37	11	35461197	35461197	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:35461197G>T	ENST00000378880.2	-	8	1523	c.1078C>A	c.(1078-1080)Ctt>Att	p.L360I	PAMR1_ENST00000532848.1_Missense_Mutation_p.L320I|PAMR1_ENST00000278360.3_Missense_Mutation_p.L377I|PAMR1_ENST00000378878.3_Missense_Mutation_p.L249I	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	360					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TGCATCGGAAGAACTCTCCTT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	158	160			NA	NA	11		NA											NA				35461197		2202	4298	6500	SO:0001583	missense				CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090	25891	25891			24554	protein-coding gene	gene with protein product	regeneration-associated muscle protease				NA	15111323	Standard	NM_015430	NM_001282675	NA	Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.1078C>A	11.37:g.35461197G>T	ENSP00000368158:p.Leu360Ile	NA	Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	37	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463058	0.84425	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605	D;D;D;D;D	0.88896	-2.3;-2.34;-2.44;-2.31;-2.27	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.91057	0.7186	N	0.24115	0.695	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.998	D;D;D	0.87578	0.998;0.991;0.996	D	0.92559	0.6056	10	0.87932	D	0	.	19.1303	0.93402	0.0:0.0:1.0:0.0	.	249;360;377	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	I	377;360;249;320;337	ENSP00000278360:L377I;ENSP00000368158:L360I;ENSP00000368156:L249I;ENSP00000433868:L320I;ENSP00000432591:L337I	ENSP00000278360:L377I	L	-	1	0	PAMR1	35417773	1.000000	0.71417	0.998000	0.56505	0.892000	0.51952	5.696000	0.68287	2.515000	0.84797	0.643000	0.83706	CTT	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389177.1		-	ENST00000378880.2	Missense_Mutation	SNP	11 : 35461197 - 35461197 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	563	91
SLC44A5	204962	broad.mit.edu	37	1	75684943	75684943	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75684943T>C	ENST00000370855.5	-	16	1378	c.1265A>G	c.(1264-1266)gAg>gGg	p.E422G	SLC44A5_ENST00000535611.1_Splice_Site_p.E292G|SLC44A5_ENST00000370859.3_Splice_Site_p.E422G	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	422						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TGTACTTACCTCTGGGTCACA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	89	91			NA	NA	1		NA											NA				75684943		2203	4300	6503	SO:0001630	splice_region_variant			BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968	204962	204962		Solute carriers	28524	protein-coding gene	gene with protein product					NA	15715662	Standard	NM_152697	NM_152697	NA	Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1266+1A>G	1.37:g.75684943T>C		NA	B5MCU3|Q4G0K0|Q8NA44|Q8NB86	37	CCDS667.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.532786	0.45073	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.15372	2.86;2.86;2.43	4.85	0.696	0.18075	.	0.429376	0.26373	N	0.024753	T	0.07369	0.0186	L	0.56769	1.78	0.43385	D	0.995495	B;B;B;B;B	0.23650	0.01;0.041;0.089;0.008;0.072	B;B;B;B;B	0.31547	0.048;0.081;0.125;0.028;0.132	T	0.09292	-1.0681	10	0.29301	T	0.29	-0.3	8.0219	0.30415	0.1248:0.0:0.2596:0.6156	.	416;461;422;422;461	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	G	422;461;422;292;415	ENSP00000359896:E422G;ENSP00000359892:E422G;ENSP00000443090:E292G	ENSP00000359892:E422G	E	-	2	0	SLC44A5	75457531	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	2.313000	0.43735	0.251000	0.21505	0.533000	0.62120	GAG	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026921.1	Missense_Mutation	-	ENST00000370855.5	Splice_Site	SNP	1 : 75684943 - 75684943 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	252	11
TMCC1	23023	broad.mit.edu	37	3	129373889	129373889	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129373889G>A	ENST00000432054.2	-	3	1548	c.597C>T	c.(595-597)atC>atT	p.I199I	TMCC1_ENST00000393238.3_Silent_p.I523I|TMCC1_ENST00000426664.2_Silent_p.I409I|TMCC1_ENST00000329333.5_Silent_p.I344I			O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	523						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TCAAGTTCAAGATTTCATTCT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	131	132			NA	NA	3		NA											NA				129373889		2203	4300	6503	SO:0001819	synonymous_variant			AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765	23023	23023		Transmembrane and coiled-coil domain containing	29116	protein-coding gene	gene with protein product			transmembrane and coiled-coil domains 1		NA	9872452	Standard	NM_015008	NR_033361	NA	Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000432054.2:c.597C>T	3.37:g.129373889G>A		NA	Q68E06|Q8IXM8	37																																																																																				TMCC1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000356323.4		-	ENST00000432054.2	Silent	SNP	3 : 129373889 - 129373889 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	508	109
DYRK1B	9149	broad.mit.edu	37	19	40319092	40319092	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40319092C>T	ENST00000593685.1	-	6	1120	c.652G>A	c.(652-654)Gcg>Acg	p.A218T	DYRK1B_ENST00000323039.5_Missense_Mutation_p.A218T|DYRK1B_ENST00000597639.1_Missense_Mutation_p.A218T|DYRK1B_ENST00000348817.3_Missense_Mutation_p.A218T|DYRK1B_ENST00000430012.2_Missense_Mutation_p.A218T			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	218	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			AGCTGCTGCGCCAGCTTCCGG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	65	66			NA	NA	19		NA											NA				40319092		2203	4300	6503	SO:0001583	missense			Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	9149	9149	2.7.12.1		3092	protein-coding gene	gene with protein product	minibrain-related kinase	604556			NA	9918863	Standard	NM_004714	XM_005259395	NA	Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.652G>A	19.37:g.40319092C>T	ENSP00000469863:p.Ala218Thr	NA	O75258|O75788|O75789	37	CCDS12543.1	.	.	.	.	.	.	.	.	.	.	C	30	5.058047	0.93846	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.67698	-0.28;-0.28;-0.28	5.95	5.95	0.96441	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73953	0.3653	L	0.35288	1.05	0.80722	D	1	D;D;D	0.71674	0.969;0.98;0.998	P;D;D	0.74023	0.835;0.917;0.982	T	0.69807	-0.5045	10	0.31617	T	0.26	.	17.8657	0.88794	0.0:1.0:0.0:0.0	.	218;218;218	Q9Y463-2;Q9Y463;Q9Y463-3	.;DYR1B_HUMAN;.	T	218	ENSP00000312789:A218T;ENSP00000221803:A218T;ENSP00000403182:A218T	ENSP00000312789:A218T	A	-	1	0	DYRK1B	45010932	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.796000	0.85898	2.826000	0.97356	0.491000	0.48974	GCG	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462874.2		-	ENST00000593685.1	Missense_Mutation	SNP	19 : 40319092 - 40319092 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	136	24
KIAA1024	23251	broad.mit.edu	37	15	79760664	79760664	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79760664G>A	ENST00000305428.3	+	4	2764	c.2689G>A	c.(2689-2691)Gct>Act	p.A897T		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	897						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TGCTCTGATCGCTGCTGCGGC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	67	70			NA	NA	15		NA											NA				79760664		2196	4293	6489	SO:0001583	missense			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330	23251	23251			29172	protein-coding gene	gene with protein product					NA	10470851	Standard	NM_015206	NM_015206	NA	Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2689G>A	15.37:g.79760664G>A	ENSP00000307461:p.Ala897Thr	NA	A7MD43	37	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	G	1.227	-0.625106	0.03636	.	.	ENSG00000169330	ENST00000305428	T	0.39997	1.05	5.67	0.306	0.15806	.	0.554149	0.19760	N	0.106696	T	0.13628	0.0330	N	0.02539	-0.55	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.23726	-1.0180	9	.	.	.	.	4.7925	0.13256	0.362:0.0:0.5035:0.1345	.	897	Q9UPX6	K1024_HUMAN	T	897	ENSP00000307461:A897T	.	A	+	1	0	KIAA1024	77547719	0.425000	0.25498	0.001000	0.08648	0.062000	0.15995	1.620000	0.36976	0.064000	0.16427	-0.122000	0.15005	GCT	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416718.1		+	ENST00000305428.3	Missense_Mutation	SNP	15 : 79760664 - 79760664 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	157	30
RNF19A	25897	broad.mit.edu	37	8	101271380	101271380	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101271380C>T	ENST00000519449.1	-	11	2237	c.1921G>A	c.(1921-1923)Gcc>Acc	p.A641T	RNF19A_ENST00000523255.1_5'UTR|RNF19A_ENST00000341084.2_Missense_Mutation_p.A641T	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	641					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CTTCGGGTGGCACTGCCATCA	0.478		NA									OREG0018897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	114	120			NA	NA	8		NA											NA				101271380		2203	4300	6503	SO:0001583	missense			AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677	25897	25897		RING-type (C3HC4) zinc fingers	13432	protein-coding gene	gene with protein product		607119	ring finger protein 19, ring finger protein 19A, ring finger protein 19A, E3 ubiquitin protein ligase	RNF19	NA	11237715, 10976766	Standard	NM_015435	NM_183419	NA	Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.1921G>A	8.37:g.101271380C>T	ENSP00000428968:p.Ala641Thr	1357	A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	37	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.195037	0.78902	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	D;D	0.84146	-1.81;-1.81	5.74	2.54	0.30619	.	0.433072	0.26692	N	0.022992	T	0.78155	0.4239	L	0.36672	1.1	0.09310	N	0.999993	B	0.13594	0.008	B	0.16722	0.016	T	0.69206	-0.5206	10	0.52906	T	0.07	.	12.1983	0.54311	0.0:0.7788:0.0:0.2212	.	641	Q9NV58	RN19A_HUMAN	T	641	ENSP00000428968:A641T;ENSP00000342667:A641T	ENSP00000342667:A641T	A	-	1	0	RNF19A	101340556	1.000000	0.71417	0.084000	0.20598	0.800000	0.45204	2.623000	0.46435	0.778000	0.33520	0.585000	0.79938	GCC	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380004.1		-	ENST00000519449.1	Missense_Mutation	SNP	8 : 101271380 - 101271380 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	676	129
RAB3GAP1	22930	broad.mit.edu	37	2	135920351	135920351	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:135920351T>C	ENST00000264158.8	+	21	2463	c.2420T>C	c.(2419-2421)aTc>aCc	p.I807T	RAB3GAP1_ENST00000487003.1_3'UTR|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.I807T|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.I763T	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	807						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		GTTAAGAAGATCATAAAGCAG	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	103	98			NA	NA	2		NA											NA				135920351		2202	4300	6502	SO:0001583	missense			D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839	22930	22930			17063	protein-coding gene	gene with protein product		602536			NA	9030515, 15696165	Standard	NM_012233	NM_012233	NA	Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2420T>C	2.37:g.135920351T>C	ENSP00000264158:p.Ile807Thr	NA	Q659F5|Q8TBB4	37	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	T	8.614	0.889897	0.17540	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.46063	0.88;0.88;0.88	6.06	6.06	0.98353	.	0.199980	0.52532	D	0.000062	T	0.31827	0.0809	L	0.36672	1.1	0.80722	D	1	B;B	0.15719	0.014;0.003	B;B	0.08055	0.003;0.001	T	0.12451	-1.0547	10	0.22109	T	0.4	-21.2019	10.8727	0.46894	0.0:0.0697:0.0:0.9303	.	807;807	C9J837;Q15042	.;RB3GP_HUMAN	T	807;763;807	ENSP00000264158:I807T;ENSP00000444306:I763T;ENSP00000411418:I807T	ENSP00000264158:I807T	I	+	2	0	RAB3GAP1	135636821	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.094000	0.41719	2.324000	0.78689	0.533000	0.62120	ATC	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337514.2		+	ENST00000264158.8	Missense_Mutation	SNP	2 : 135920351 - 135920351 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	500	140
SLC5A3	6526	broad.mit.edu	37	21	35467703	35467703	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35467703C>T	ENST00000381151.3	+	2	718	c.206C>T	c.(205-207)gCa>gTa	p.A69V	AP000320.7_ENST00000362077.4_RNA|SLC5A3_ENST00000608209.1_Missense_Mutation_p.A69V|MRPS6_ENST00000399312.2_Intron			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	69						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						ATTGGGCTGGCAGGATCTGGA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	VAL/ALA,	0,4406		0,0,2203	137	130	132		206,	5.9	1	21		132	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron	SLC5A3,MRPS6	NM_006933.4,NM_032476.3	64,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging,	69/719,	35467703	1,13005	2203	4300	6503	SO:0001583	missense				CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743	6526	6526		Solute carriers	11038	protein-coding gene	gene with protein product		600444	solute carrier family 5 (inositol transporter), member 3		NA	7789985	Standard		NM_006933	NA	Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.206C>T	21.37:g.35467703C>T	ENSP00000370543:p.Ala69Val	NA	O43489	37	CCDS33549.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004086	0.74932	0.0	1.16E-4	ENSG00000198743	ENST00000381151	D	0.90788	-2.73	5.92	5.92	0.95590	.	0.053770	0.64402	D	0.000001	D	0.96537	0.8870	M	0.91561	3.22	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.96820	0.9603	10	0.87932	D	0	.	18.8931	0.92413	0.0:1.0:0.0:0.0	.	69	P53794	SC5A3_HUMAN	V	69	ENSP00000370543:A69V	ENSP00000370543:A69V	A	+	2	0	SLC5A3	34389573	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.810000	0.86072	2.805000	0.96524	0.609000	0.83330	GCA	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000141037.1		+	ENST00000381151.3	Missense_Mutation	SNP	21 : 35467703 - 35467703 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	492	27
SUV39H2	79723	broad.mit.edu	37	10	14939500	14939500	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:14939500T>C	ENST00000313519.5	+	2	884	c.653T>C	c.(652-654)aTg>aCg	p.M218T	SUV39H2_ENST00000378325.3_Intron|DCLRE1C_ENST00000378289.4_3'UTR|SUV39H2_ENST00000354919.6_Missense_Mutation_p.M278T	NM_001193425.1|NM_024670.3	NP_001180354.1|NP_078946.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	278	Pre-SET.				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						AGTTTTGTCATGGAATATGTT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	63	64			NA	NA	10		NA											NA				14939500		2203	4300	6503	SO:0001583	missense			AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455	79723	79723		Chromatin-modifying enzymes / K-methyltransferases	17287	protein-coding gene	gene with protein product		606503			NA	11094092	Standard	NM_024670	NM_001193424	NA	Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000313519.5:c.653T>C	10.37:g.14939500T>C	ENSP00000319208:p.Met218Thr	NA	D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	37	CCDS7104.1	.	.	.	.	.	.	.	.	.	.	T	14.08	2.429912	0.43122	.	.	ENSG00000152455	ENST00000354919;ENST00000313519;ENST00000420416	T;T;D	0.89552	-1.47;-1.47;-2.53	5.86	5.86	0.93980	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.83243	0.5212	N	0.12527	0.23	0.80722	D	1	B	0.32939	0.391	B	0.40534	0.332	T	0.82337	-0.0507	10	0.35671	T	0.21	.	15.7408	0.77894	0.0:0.0:0.0:1.0	.	278	Q9H5I1	SUV92_HUMAN	T	278;218;218	ENSP00000346997:M278T;ENSP00000319208:M218T;ENSP00000392201:M218T	ENSP00000319208:M218T	M	+	2	0	SUV39H2	14979506	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.367000	0.80283	0.528000	0.53228	ATG	SUV39H2-008	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046953.2		+	ENST00000313519.5	Missense_Mutation	SNP	10 : 14939500 - 14939500 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	527	86
MMP14	4323	broad.mit.edu	37	14	23306057	23306057	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23306057C>A	ENST00000311852.6	+	1	292	c.31C>A	c.(31-33)Ctc>Atc	p.L11I	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	11						extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		CCCCCGTTGTCTCCTGCTCCC	0.726		NA									OREG0022586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	25	27			NA	NA	14		NA											NA				23306057		2203	4298	6501	SO:0001583	missense				CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227	4323	4323			7160	protein-coding gene	gene with protein product	membrane type 1 metalloprotease	600754	matrix metalloproteinase 14 (membrane-inserted)		NA	8015608	Standard	NM_004995	NM_004995	NA	Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.31C>A	14.37:g.23306057C>A	ENSP00000308208:p.Leu11Ile	762	A8K5L0|Q6GSF3|Q92678	37	CCDS9577.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604229	0.46423	.	.	ENSG00000157227	ENST00000311852;ENST00000547279	T;T	0.59224	2.4;0.28	4.75	4.75	0.60458	.	0.533597	0.20310	N	0.094848	T	0.37517	0.1006	N	0.08118	0	0.31485	N	0.666702	B	0.24823	0.112	B	0.23018	0.043	T	0.42310	-0.9459	10	0.40728	T	0.16	.	13.4433	0.61125	0.0:1.0:0.0:0.0	.	11	P50281	MMP14_HUMAN	I	11	ENSP00000308208:L11I;ENSP00000450323:L11I	ENSP00000308208:L11I	L	+	1	0	MMP14	22375897	0.813000	0.29090	0.998000	0.56505	0.991000	0.79684	1.956000	0.40382	2.630000	0.89119	0.655000	0.94253	CTC	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071660.3		+	ENST00000311852.6	Missense_Mutation	SNP	14 : 23306057 - 23306057 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	213	48
SLC43A3	29015	broad.mit.edu	37	11	57193571	57193571	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57193571G>A	ENST00000395123.2	-	3	379	c.75C>T	c.(73-75)ggC>ggT	p.G25G	SLC43A3_ENST00000395124.1_Silent_p.G25G|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000533524.1_Silent_p.G25G|SLC43A3_ENST00000352187.1_Silent_p.G25G|SLC43A3_ENST00000529554.1_Silent_p.G25G	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	25					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CAAAGAGGACGCCAGCAAAGC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	95	95			NA	NA	11		NA											NA				57193571		2201	4296	6497	SO:0001819	synonymous_variant			AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802	29015	29015		Solute carriers	17466	protein-coding gene	gene with protein product	likely ortholog of mouse embryonic epithelial gene 1				NA	7531438, 11704567	Standard	NM_017611	NM_017611	NA	Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.75C>T	11.37:g.57193571G>A		NA	Q9NSS4	37	CCDS7956.1																																																																																			SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393057.1		-	ENST00000395123.2	Silent	SNP	11 : 57193571 - 57193571 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	770	149
ZNF676	163223	broad.mit.edu	37	19	22363492	22363492	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22363492C>T	ENST00000397121.2	-	3	1344	c.1027G>A	c.(1027-1029)Ggg>Agg	p.G343R		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AAAGCTTTCCCGCATTCTTCA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	88	86			NA	NA	19		NA											NA				22363492		2179	4283	6462	SO:0001583	missense			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109	163223	163223		Zinc fingers, C2H2-type	20429	protein-coding gene	gene with protein product					NA		Standard	NM_001001411	NM_001001411	NA	Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1027G>A	19.37:g.22363492C>T	ENSP00000380310:p.Gly343Arg	NA	A8MVX5	37	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	13.10	2.137376	0.37728	.	.	ENSG00000196109	ENST00000397121	T	0.01484	4.84	0.85	0.85	0.18980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09069	0.0224	M	0.84082	2.675	0.29973	N	0.818377	D	0.89917	1.0	D	0.79784	0.993	T	0.02505	-1.1149	9	0.72032	D	0.01	.	8.4137	0.32659	0.0:1.0:0.0:0.0	.	343	Q8N7Q3	ZN676_HUMAN	R	343	ENSP00000380310:G343R	ENSP00000380310:G343R	G	-	1	0	ZNF676	22155332	0.057000	0.20700	0.002000	0.10522	0.002000	0.02628	0.660000	0.25009	0.192000	0.20272	0.195000	0.17529	GGG	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464392.1		-	ENST00000397121.2	Missense_Mutation	SNP	19 : 22363492 - 22363492 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	666	78
FAM179A	165186	broad.mit.edu	37	2	29258407	29258407	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29258407G>A	ENST00000379558.4	+	17	2654	c.2303G>A	c.(2302-2304)cGg>cAg	p.R768Q	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.R713Q	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	768							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAGCAGCTACGGGAGCTGACA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	16	16			NA	NA	2		NA											NA				29258407		2197	4294	6491	SO:0001583	missense			AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350	165186	165186			33715	protein-coding gene	gene with protein product					NA	16344560	Standard	NM_199280	NM_199280	NA	Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.2303G>A	2.37:g.29258407G>A	ENSP00000368876:p.Arg768Gln	NA	Q6ZUF5	37	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138539	0.56936	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.13901	2.55;2.55	4.74	3.63	0.41609	Armadillo-like helical (1);Armadillo-type fold (1);	0.231983	0.29307	N	0.012538	T	0.23210	0.0561	L	0.60455	1.87	0.29437	N	0.859426	D;D;D	0.71674	0.991;0.998;0.998	P;P;P	0.59115	0.69;0.75;0.852	T	0.02805	-1.1108	10	0.45353	T	0.12	.	6.4891	0.22105	0.2624:0.0:0.7376:0.0	.	713;768;66	F8W8E4;Q6ZUX3;Q6ZUX3-3	.;F179A_HUMAN;.	Q	768;713	ENSP00000368876:R768Q;ENSP00000384699:R713Q	ENSP00000368876:R768Q	R	+	2	0	FAM179A	29111911	1.000000	0.71417	0.995000	0.50966	0.142000	0.21351	3.093000	0.50217	2.196000	0.70406	0.561000	0.74099	CGG	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317848.4		+	ENST00000379558.4	Missense_Mutation	SNP	2 : 29258407 - 29258407 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	51	13
OR52B6	340980	broad.mit.edu	37	11	5602323	5602323	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5602323G>A	ENST00000345043.2	+	1	217	c.217G>A	c.(217-219)Gca>Aca	p.A73T	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCTCCCAGGCAATCCTGCA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	160	161			NA	NA	11		NA											NA				5602323		2141	4259	6400	SO:0001583	missense			AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747	340980	340980		GPCR / Class A : Olfactory receptors	15211	protein-coding gene	gene with protein product					NA		Standard	NM_001005162	NM_001005162	NA	Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.217G>A	11.37:g.5602323G>A	ENSP00000341581:p.Ala73Thr	NA	Q6IFI7	37	CCDS41611.1	.	.	.	.	.	.	.	.	.	.	G	8.676	0.903901	0.17760	.	.	ENSG00000187747	ENST00000345043	T	0.00402	7.56	5.15	-0.535	0.11879	GPCR, rhodopsin-like superfamily (1);	0.822472	0.09784	U	0.756273	T	0.00178	0.0005	N	0.12443	0.215	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.36138	-0.9760	10	0.38643	T	0.18	.	0.6632	0.00846	0.2204:0.3738:0.1321:0.2737	.	73	Q8NGF0	O52B6_HUMAN	T	73	ENSP00000341581:A73T	ENSP00000341581:A73T	A	+	1	0	OR52B6	5558899	0.000000	0.05858	0.015000	0.15790	0.447000	0.32167	-1.811000	0.01728	0.056000	0.16144	-0.171000	0.13296	GCA	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000143397.1		+	ENST00000345043.2	Missense_Mutation	SNP	11 : 5602323 - 5602323 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	623	114
R3HDM4	91300	broad.mit.edu	37	19	901497	901497	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:901497C>T	ENST00000361574.5	-	3	349	c.276G>A	c.(274-276)ctG>ctA	p.L92L	R3HDM4_ENST00000587975.1_Silent_p.L71L	NM_138774.3	NP_620129.2	Q96D70	CS022_HUMAN	R3H domain containing 4	92						nucleus	nucleic acid binding				NA						CCCCATCCTCCAGGCCAGGCA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	39	39			NA	NA	19		NA											NA				901497		2201	4299	6500	SO:0001819	synonymous_variant			BC012775	CCDS12048.1	19p13.3	2011-11-23	2011-11-23	2011-11-23	ENSG00000198858	ENSG00000198858	91300	91300			28270	protein-coding gene	gene with protein product			chromosome 19 open reading frame 22	C19orf22	NA	12477932	Standard	NM_138774	NM_138774	NA	Approved	MGC16353	uc002lqg.2	Q96D70		ENST00000361574.5:c.276G>A	19.37:g.901497C>T		NA		37	CCDS12048.1																																																																																			R3HDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458209.1		-	ENST00000361574.5	Silent	SNP	19 : 901497 - 901497 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	172	29
EXOC4	60412	broad.mit.edu	37	7	132959895	132959895	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:132959895G>A	ENST00000253861.4	+	2	274	c.245G>A	c.(244-246)cGc>cAc	p.R82H	EXOC4_ENST00000539845.1_5'UTR|EXOC4_ENST00000393161.2_Missense_Mutation_p.R82H	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	82					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				ATCACAGAGCGCATCACTAAC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	101	105			NA	NA	7		NA											NA				132959895		2203	4300	6503	SO:0001583	missense			AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558	60412	60412			30389	protein-coding gene	gene with protein product		608185	SEC8-like 1 (S. cerevisiae)	SEC8L1	NA	11214970, 12687004	Standard	NM_021807	XM_005250523	NA	Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.245G>A	7.37:g.132959895G>A	ENSP00000253861:p.Arg82His	NA	Q541U8|Q9C0G4|Q9H9K0|Q9P102	37	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	G	32	5.148632	0.94603	.	.	ENSG00000131558	ENST00000253861;ENST00000393161	.	.	.	5.49	5.49	0.81192	Sec8 exocyst complex component specific domain (1);	0.000000	0.85682	D	0.000000	T	0.64735	0.2625	L	0.28115	0.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.945;0.973	T	0.59322	-0.7476	9	0.22109	T	0.4	.	19.3733	0.94498	0.0:0.0:1.0:0.0	.	82;82	Q96A65;Q8TAR2	EXOC4_HUMAN;.	H	82	.	ENSP00000253861:R82H	R	+	2	0	EXOC4	132610435	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.360000	0.97119	2.579000	0.87056	0.650000	0.86243	CGC	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339182.1		+	ENST00000253861.4	Missense_Mutation	SNP	7 : 132959895 - 132959895 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	240	44
NDE1	54820	broad.mit.edu	37	16	15781279	15781279	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15781279C>T	ENST00000396355.1	+	6	1260	c.434C>T	c.(433-435)gCc>gTc	p.A145V	NDE1_ENST00000396353.2_Missense_Mutation_p.A145V|NDE1_ENST00000342673.5_Missense_Mutation_p.A145V|NDE1_ENST00000396354.1_Missense_Mutation_p.A145V	NM_001143979.1	NP_001137451.1	Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	145	Interaction with PAFAH1B1 (By similarity).				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						TTGAATCAGGCCATCGAAAGA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	85	84			NA	NA	16		NA											NA				15781279		2197	4300	6497	SO:0001583	missense			AF124431	CCDS10564.1	16p13.11	2013-08-06	2013-08-06		ENSG00000072864	ENSG00000072864	54820	54820			17619	protein-coding gene	gene with protein product		609449	nudE nuclear distribution gene E homolog 1 (A. nidulans), nudE nuclear distribution E homolog 1 (A. nidulans)		NA	10940388, 12427674	Standard	NM_017668	NM_017668	NA	Approved	nudE, FLJ20101, NDE	uc002dds.3	Q9NXR1	OTTHUMG00000129885	ENST00000396355.1:c.434C>T	16.37:g.15781279C>T	ENSP00000379643:p.Ala145Val	NA	Q49AQ2	37	CCDS10564.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294382	0.81025	.	.	ENSG00000072864	ENST00000396355;ENST00000396353;ENST00000396354;ENST00000342673	.	.	.	5.86	5.86	0.93980	NUDE protein, C-terminal (1);	0.051998	0.85682	D	0.000000	T	0.60196	0.2250	M	0.69463	2.115	0.80722	D	1	B;D	0.58620	0.299;0.983	B;B	0.42522	0.013;0.39	T	0.62765	-0.6785	9	0.40728	T	0.16	-51.7478	19.1736	0.93590	0.0:1.0:0.0:0.0	.	145;145	Q9NXR1;Q9NXR1-2	NDE1_HUMAN;.	V	145	.	ENSP00000345892:A145V	A	+	2	0	NDE1	15688780	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	6.020000	0.70826	2.766000	0.95052	0.591000	0.81541	GCC	NDE1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252133.1		+	ENST00000396355.1	Missense_Mutation	SNP	16 : 15781279 - 15781279 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	328	67
CPT1B	1375	broad.mit.edu	37	22	51012062	51012062	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51012062G>A	ENST00000360719.2	-	10	1190	c.1053C>T	c.(1051-1053)ggC>ggT	p.G351G	CPT1B_ENST00000405237.3_Silent_p.G351G|CPT1B_ENST00000312108.7_Silent_p.G351G|CPT1B_ENST00000457250.1_Silent_p.G317G|CPT1B_ENST00000395650.2_Silent_p.G351G|CPT1B_ENST00000440709.1_Silent_p.G351G|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Silent_p.G148G	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	351					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		GCAGACGGGCGCCCTCATAGA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(170;988 1933 25577 30295 48163)							NA				0													42	41	41			NA	NA	22		NA											NA				51012062		2203	4300	6503	SO:0001819	synonymous_variant			U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560	1375	1375			2329	protein-coding gene	gene with protein product		601987			NA	9070950	Standard	NM_152246	NM_152245	NA	Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1053C>T	22.37:g.51012062G>A		NA	Q13389|Q99655|Q9BY90	37	CCDS14098.1																																																																																			CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317264.5		-	ENST00000360719.2	Silent	SNP	22 : 51012062 - 51012062 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	295	29
MFSD7	84179	broad.mit.edu	37	4	676654	676654	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:676654G>A	ENST00000503156.1	-	9	1072	c.985C>T	c.(985-987)Ctg>Ttg	p.L329L	MFSD7_ENST00000347950.5_Silent_p.L275L|MFSD7_ENST00000404286.2_Silent_p.L394L|MFSD7_ENST00000322224.4_Silent_p.L393L|MFSD7_ENST00000515118.1_Silent_p.L297L			Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	394					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						GTCATTGCCAGCATGATGAGT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	67	72			NA	NA	4		NA											NA				676654		2198	4299	6497	SO:0001819	synonymous_variant			AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026	84179	84179		Solute carriers	26177	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_032219	XM_005272295	NA	Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000503156.1:c.985C>T	4.37:g.676654G>A		NA	A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	37																																																																																				MFSD7-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000358586.2		-	ENST00000503156.1	Silent	SNP	4 : 676654 - 676654 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	101	20
FAM64A	54478	broad.mit.edu	37	17	6348719	6348719	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6348719T>C	ENST00000572595.2	+	2	367	c.289T>C	c.(289-291)Tcc>Ccc	p.S97P	FAM64A_ENST00000572447.1_Missense_Mutation_p.S97P|FAM64A_ENST00000250056.8_Missense_Mutation_p.S97P|FAM64A_ENST00000576056.1_Missense_Mutation_p.S97P|FAM64A_ENST00000570337.2_Missense_Mutation_p.S97P|FAM64A_ENST00000571373.1_Missense_Mutation_p.S97P			Q9BSJ6	FA64A_HUMAN	family with sequence similarity 64, member A	97						nucleolus	protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				COAD - Colon adenocarcinoma(228;0.141)		GGGTGCCGTGTCCCAGGTAAT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	58	56			NA	NA	17		NA											NA				6348719		2203	4300	6503	SO:0001583	missense				CCDS32541.1, CCDS56016.1	17p13.2	2013-10-11			ENSG00000129195	ENSG00000129195	54478	54478			25483	protein-coding gene	gene with protein product	CALM interacting protein expressed in thymus and spleen				NA	19383357, 16491119	Standard	NM_019013	NM_019013	NA	Approved	FLJ10156, FLJ10491, CATS	uc002gcw.2	Q9BSJ6	OTTHUMG00000177832	ENST00000572595.2:c.289T>C	17.37:g.6348719T>C	ENSP00000458584:p.Ser97Pro	NA	Q96CT4|Q9NVV1|Q9NWB5	37		.	.	.	.	.	.	.	.	.	.	T	14.50	2.552859	0.45487	.	.	ENSG00000129195	ENST00000250056;ENST00000308855	T	0.56611	0.45	4.75	3.6	0.41247	.	0.080661	0.51477	D	0.000096	T	0.67468	0.2896	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.75484	0.986;0.943	T	0.70107	-0.4963	10	0.87932	D	0	-22.6153	8.0664	0.30663	0.0:0.0:0.2059:0.7941	.	97;97	Q9BSJ6;Q9BSJ6-2	FA64A_HUMAN;.	P	97	ENSP00000250056:S97P	ENSP00000250056:S97P	S	+	1	0	FAM64A	6289443	1.000000	0.71417	0.997000	0.53966	0.240000	0.25518	2.234000	0.43035	2.143000	0.66587	0.533000	0.62120	TCC	FAM64A-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000439151.2		+	ENST00000572595.2	Missense_Mutation	SNP	17 : 6348719 - 6348719 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	66
LRGUK	136332	broad.mit.edu	37	7	133933760	133933760	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:133933760A>C	ENST00000285928.2	+	18	2199	c.2130A>C	c.(2128-2130)gaA>gaC	p.E710D		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	710							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CTTTAGAAGAACTCTGGAAAA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	81	81			NA	NA	7		NA											NA				133933760		2203	4300	6503	SO:0001583	missense			AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530	136332	136332			21964	protein-coding gene	gene with protein product					NA		Standard	NM_144648	NM_144648	NA	Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.2130A>C	7.37:g.133933760A>C	ENSP00000285928:p.Glu710Asp	NA	Q2M3I1	37	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	A	8.507	0.865667	0.17250	.	.	ENSG00000155530	ENST00000285928	T	0.38240	1.15	3.27	-4.44	0.03557	.	0.311846	0.27754	N	0.018000	T	0.17492	0.0420	L	0.34521	1.04	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.05903	-1.0857	10	0.48119	T	0.1	-11.3641	1.0572	0.01592	0.304:0.1769:0.346:0.1732	.	710	Q96M69	LRGUK_HUMAN	D	710	ENSP00000285928:E710D	ENSP00000285928:E710D	E	+	3	2	LRGUK	133584300	0.043000	0.20138	0.001000	0.08648	0.023000	0.10783	0.036000	0.13819	-0.943000	0.03691	-0.263000	0.10527	GAA	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339442.1		+	ENST00000285928.2	Missense_Mutation	SNP	7 : 133933760 - 133933760 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	316	69
OR6C74	254783	broad.mit.edu	37	12	55641685	55641685	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55641685T>G	ENST00000343870.4	+	1	704	c.614T>G	c.(613-615)cTc>cGc	p.L205R		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						ATTTTGACGCTCCTGGTTACA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	86	89			NA	NA	12		NA											NA				55641685		2203	4300	6503	SO:0001583	missense				CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706	254783	254783		GPCR / Class A : Olfactory receptors	31303	protein-coding gene	gene with protein product					NA		Standard		NM_001005490	NA	Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.614T>G	12.37:g.55641685T>G	ENSP00000342836:p.Leu205Arg	NA		37	CCDS31816.1	.	.	.	.	.	.	.	.	.	.	t	11.76	1.734754	0.30774	.	.	ENSG00000197706	ENST00000343870	T	0.39056	1.1	5.45	5.45	0.79879	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000303	T	0.69860	0.3158	H	0.94385	3.53	0.09310	N	1	D	0.67145	0.996	D	0.76071	0.987	T	0.69015	-0.5257	10	0.87932	D	0	.	7.3485	0.26676	0.0:0.0766:0.1464:0.777	.	205	A6NCV1	O6C74_HUMAN	R	205	ENSP00000342836:L205R	ENSP00000342836:L205R	L	+	2	0	OR6C74	53927952	0.003000	0.15002	0.094000	0.20943	0.230000	0.25150	1.468000	0.35332	2.196000	0.70406	0.451000	0.29950	CTC	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382312.1		+	ENST00000343870.4	Missense_Mutation	SNP	12 : 55641685 - 55641685 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	458	27
ZNF408	79797	broad.mit.edu	37	11	46726961	46726961	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46726961C>T	ENST00000311764.2	+	5	1941	c.1711C>T	c.(1711-1713)Cgc>Tgc	p.R571C		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	571					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGCTCACGAGCGCCTGCACTC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)							NA				0													25	25	25			NA	NA	11		NA											NA				46726961		2201	4299	6500	SO:0001583	missense			AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213	79797	79797		Zinc fingers, C2H2-type	20041	protein-coding gene	gene with protein product					NA	15231747	Standard	NM_024741	NM_024741	NA	Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.1711C>T	11.37:g.46726961C>T	ENSP00000309606:p.Arg571Cys	NA		37	CCDS7923.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299337	0.60195	.	.	ENSG00000175213	ENST00000311764	T	0.25749	1.78	5.23	3.24	0.37175	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43747	D	0.000535	T	0.29491	0.0735	M	0.79123	2.44	0.52501	D	0.999957	P;P	0.47253	0.892;0.892	B;B	0.42112	0.376;0.376	T	0.14420	-1.0473	10	0.87932	D	0	-33.5023	7.5133	0.27585	0.0:0.7036:0.1398:0.1566	.	563;571	B4DXY4;Q9H9D4	.;ZN408_HUMAN	C	571	ENSP00000309606:R571C	ENSP00000309606:R571C	R	+	1	0	ZNF408	46683537	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	1.502000	0.35704	1.205000	0.43262	0.462000	0.41574	CGC	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390485.2		+	ENST00000311764.2	Missense_Mutation	SNP	11 : 46726961 - 46726961 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	217	36
FCRL1	115350	broad.mit.edu	37	1	157771268	157771268	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157771268C>T	ENST00000368176.3	-	6	1053	c.986G>A	c.(985-987)gGc>gAc	p.G329D	FCRL1_ENST00000358292.3_Intron|FCRL1_ENST00000489998.1_Intron|FCRL1_ENST00000491942.1_Missense_Mutation_p.G329D	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	329						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCTTTTGAGGCCGTAGCAAAA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(54;482 1003 11223 30131 35730)							NA				0													72	73	73			NA	NA	1		NA											NA				157771268		2203	4300	6503	SO:0001583	missense			BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534	115350	115350		CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	18509	protein-coding gene	gene with protein product		606508			NA	11493702, 11929751	Standard	NM_052938	NM_052938	NA	Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.986G>A	1.37:g.157771268C>T	ENSP00000357158:p.Gly329Asp	NA	B2RE05|Q8N759|Q8NDI0|Q96PJ6	37	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.868592	0.32977	.	.	ENSG00000163534	ENST00000368176;ENST00000491942	T;T	0.38077	1.16;1.19	5.35	4.43	0.53597	.	1.011940	0.07905	N	0.973270	T	0.21387	0.0515	L	0.29908	0.895	0.09310	N	0.99999	D;P	0.55172	0.97;0.627	P;B	0.50825	0.651;0.184	T	0.02417	-1.1162	10	0.32370	T	0.25	.	9.2445	0.37518	0.0:0.9058:0.0:0.0942	.	329;329	Q96LA6-2;Q96LA6	.;FCRL1_HUMAN	D	329	ENSP00000357158:G329D;ENSP00000418130:G329D	ENSP00000357158:G329D	G	-	2	0	FCRL1	156037892	0.574000	0.26684	0.864000	0.33941	0.132000	0.20833	1.796000	0.38794	2.941000	0.99782	0.655000	0.94253	GGC	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051401.1		-	ENST00000368176.3	Missense_Mutation	SNP	1 : 157771268 - 157771268 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	498	80
ANKS4B	257629	broad.mit.edu	37	16	21261844	21261844	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21261844G>T	ENST00000311620.5	+	2	1030	c.957G>T	c.(955-957)gaG>gaT	p.E319D		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	319										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CTGATGAAGAGGGAGAGGAAA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	160	157			NA	NA	16		NA											NA				21261844		2089	4223	6312	SO:0001583	missense			AK096138	CCDS42130.1	16p12.2	2013-01-10				ENSG00000175311	257629	257629		Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	26795	protein-coding gene	gene with protein product		609901			NA		Standard	NM_145865	NM_145865	NA	Approved	FLJ38819, HARP	uc010bwp.1	Q8N8V4		ENST00000311620.5:c.957G>T	16.37:g.21261844G>T	ENSP00000308772:p.Glu319Asp	NA		37	CCDS42130.1	.	.	.	.	.	.	.	.	.	.	G	0.185	-1.058951	0.01950	.	.	ENSG00000175311	ENST00000311620	T	0.41065	1.01	5.87	0.135	0.14775	.	0.583457	0.18380	N	0.142989	T	0.30386	0.0763	L	0.60455	1.87	0.32789	N	0.501461	B	0.15930	0.015	B	0.14578	0.011	T	0.31420	-0.9944	10	0.12430	T	0.62	-7.3885	5.6077	0.17389	0.3447:0.2906:0.3646:0.0	.	319	Q8N8V4	ANS4B_HUMAN	D	319	ENSP00000308772:E319D	ENSP00000308772:E319D	E	+	3	2	ANKS4B	21169345	0.000000	0.05858	0.282000	0.24776	0.009000	0.06853	-0.491000	0.06474	0.053000	0.16036	-0.283000	0.09986	GAG	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000436535.1		+	ENST00000311620.5	Missense_Mutation	SNP	16 : 21261844 - 21261844 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	259	43
ALOX12B	242	broad.mit.edu	37	17	7976504	7976504	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7976504G>A	ENST00000319144.4	-	14	2148	c.1888C>T	c.(1888-1890)Ctg>Ttg	p.L630L	ALOX12B_ENST00000577351.1_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	630	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CAGAGCACCAGCAGCGTGATG	0.627		NA								Multiple Myeloma(8;0.094)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	146	150			NA	NA	17		NA											NA				7976504		2203	4300	6503	SO:0001819	synonymous_variant			AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	242	242	1.13.11.-	Arachidonate lipoxygenases	430	protein-coding gene	gene with protein product		603741			NA	9618483	Standard		NM_001139	NA	Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.1888C>T	17.37:g.7976504G>A		NA		37	CCDS11129.1																																																																																			ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226984.3		-	ENST00000319144.4	Silent	SNP	17 : 7976504 - 7976504 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1118	218
AGAP3	116988	broad.mit.edu	37	7	150840658	150840658	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150840658T>G	ENST00000463381.1	+	15	2007	c.1511T>G	c.(1510-1512)gTt>gGt	p.V504G	AGAP3_ENST00000397238.2_Missense_Mutation_p.V835G	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	799	PH.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						ATGGCCAACGTTGTCTTCACG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	118	115			NA	NA	7		NA											NA				150840658		2169	4255	6424	SO:0001583	missense			AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612	116988	116988		ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing	16923	protein-coding gene	gene with protein product			centaurin, gamma 3	CENTG3	NA		Standard	NM_031946	NM_001042535	NA	Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.1511T>G	7.37:g.150840658T>G	ENSP00000418016:p.Val504Gly	NA	Q59EN0|Q96RK3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.39|17.39	3.378686|3.378686	0.61735|0.61735	.|.	.|.	ENSG00000133612|ENSG00000133612	ENST00000461065|ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355	.|T;T	.|0.66638	.|-0.22;-0.22	5.28|5.28	5.28|5.28	0.74379|0.74379	.|Ankyrin repeat-containing domain (4);	.|0.153604	.|0.44902	.|D	.|0.000411	T|T	0.78811|0.78811	0.4342|0.4342	L|L	0.60067|0.60067	1.865|1.865	0.80722|0.80722	D|D	1|1	.|D;D;P;D	.|0.89917	.|1.0;0.974;0.928;0.999	.|D;P;P;D	.|0.97110	.|1.0;0.901;0.74;0.997	T|T	0.80997|0.80997	-0.1132|-0.1132	5|10	.|0.87932	.|D	.|0	.|.	14.5549|14.5549	0.68094|0.68094	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|799;334;835;504	.|Q96P47;E7ETI2;Q96P47-4;B3KNZ8	.|AGAP3_HUMAN;.;.;.	V|G	328|504;334;835;799	.|ENSP00000418016:V504G;ENSP00000380413:V835G	.|ENSP00000334157:V799G	L|V	+|+	1|2	2|0	AGAP3|AGAP3	150471591|150471591	1.000000|1.000000	0.71417|0.71417	0.050000|0.050000	0.19076|0.19076	0.406000|0.406000	0.30931|0.30931	7.863000|7.863000	0.87023|0.87023	2.210000|2.210000	0.71456|0.71456	0.533000|0.533000	0.62120|0.62120	TTG|GTT	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000351909.2		+	ENST00000463381.1	Missense_Mutation	SNP	7 : 150840658 - 150840658 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	523	88
CCDC108	255101	broad.mit.edu	37	2	219884315	219884315	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219884315C>T	ENST00000341552.5	-	20	3469	c.3386G>A	c.(3385-3387)cGc>cAc	p.R1129H	CCDC108_ENST00000441968.1_Missense_Mutation_p.R1129H|CCDC108_ENST00000453220.1_Missense_Mutation_p.R1129H	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1129						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGAAGAGGCGCCACAGGTG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	43	42			NA	NA	2		NA											NA				219884315		2203	4300	6503	SO:0001583	missense			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378	255101	255101			25325	protein-coding gene	gene with protein product		614270			NA	12477932	Standard	NM_194302	NM_194302	NA	Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.3386G>A	2.37:g.219884315C>T	ENSP00000340776:p.Arg1129His	NA	A2BDD8|Q6ZSR8|Q8NDJ3	37	CCDS2430.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.76|12.76	2.035950|2.035950	0.35893|0.35893	.|.	.|.	ENSG00000181378|ENSG00000181378	ENST00000413871|ENST00000341552;ENST00000441968;ENST00000453220	.|T;T;T	.|0.05139	.|3.49;3.49;3.49	5.04|5.04	-1.92|-1.92	0.07618|0.07618	.|.	.|0.958231	.|0.08607	.|N	.|0.920538	T|T	0.04227|0.04227	0.0117|0.0117	N|N	0.14661|0.14661	0.345|0.345	0.37377|0.37377	D|D	0.911878|0.911878	.|B	.|0.26147	.|0.143	.|B	.|0.19391	.|0.025	T|T	0.35919|0.35919	-0.9769|-0.9769	5|10	.|0.39692	.|T	.|0.17	-5.0064|-5.0064	11.4139|11.4139	0.49941|0.49941	0.0:0.4375:0.0:0.5625|0.0:0.4375:0.0:0.5625	.|.	.|1129	.|Q6ZU64	.|CC108_HUMAN	T|H	38|1129	.|ENSP00000340776:R1129H;ENSP00000413377:R1129H;ENSP00000409117:R1129H	.|ENSP00000340776:R1129H	A|R	-|-	1|2	0|0	CCDC108|CCDC108	219592559|219592559	0.005000|0.005000	0.15991|0.15991	0.960000|0.960000	0.40013|0.40013	0.982000|0.982000	0.71751|0.71751	-0.237000|-0.237000	0.08990|0.08990	-0.636000|-0.636000	0.05524|0.05524	0.561000|0.561000	0.74099|0.74099	GCC|CGC	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256598.4		-	ENST00000341552.5	Missense_Mutation	SNP	2 : 219884315 - 219884315 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	232	57
MUC21	394263	broad.mit.edu	37	6	30954944	30954944	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30954944C>T	ENST00000486149.2	+	0	1375				MUC21_ENST00000376296.3_Missense_Mutation_p.T331I			Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	NA						integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AGCACAGCCACCAACTCTGAG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	141	141			NA	NA	6		NA											NA				30954944		2202	4297	6499	SO:0001623	5_prime_UTR_variant			AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544	394263	394263		Mucins	21661	protein-coding gene	gene with protein product	epiglycanin		chromosome 6 open reading frame 205	C6orf205	NA	17977904	Standard	NM_001010909	NM_001010909	NA	Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000486149.2:c.-371C>T	6.37:g.30954944C>T		NA	B0UZT7|B4DQ55|C9JMK2|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	37		.	.	.	.	.	.	.	.	.	.	c	10.73	1.431182	0.25726	.	.	ENSG00000204544	ENST00000376296	T	0.03301	3.98	4.59	1.84	0.25277	.	.	.	.	.	T	0.00906	0.0030	L	0.29908	0.895	0.09310	N	1	B	0.29432	0.244	B	0.23018	0.043	T	0.47749	-0.9093	8	.	.	.	1.8137	7.8785	0.29608	0.0:0.7225:0.0:0.2775	.	331	Q5SSG8	MUC21_HUMAN	I	331	ENSP00000365473:T331I	.	T	+	2	0	MUC21	31062923	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.202000	0.09451	0.272000	0.22027	-0.229000	0.12294	ACC	MUC21-002	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000128457.3		+	ENST00000486149.2	5'UTR	SNP	6 : 30954944 - 30954944 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1349	267
EPS15	2060	broad.mit.edu	37	1	51913785	51913785	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:51913785G>A	ENST00000371733.3	-	9	680	c.584C>T	c.(583-585)gCa>gTa	p.A195V	EPS15_ENST00000371730.2_Missense_Mutation_p.A195V	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	195	EF-hand 1.|EH 2.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TTTCTCCAGTGCACAGTATAC	0.428		NA	T	MLL	ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	1	Whole gene deletion(1)	central_nervous_system(1)											165	159	161			NA	NA	1		NA											NA				51913785		2203	4300	6503	SO:0001583	missense			BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832	2060	2060		EF-hand domain containing	3419	protein-coding gene	gene with protein product		600051			NA	8183552	Standard	NM_001981	NM_001159969	NA	Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.584C>T	1.37:g.51913785G>A	ENSP00000360798:p.Ala195Val	NA	B2R8J7|D3DPJ2|Q5SRH4	37	CCDS557.1	.	.	.	.	.	.	.	.	.	.	G	35	5.574835	0.96553	.	.	ENSG00000085832	ENST00000371730;ENST00000371733	T;T	0.26518	1.73;1.73	5.75	5.75	0.90469	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.32204	N	0.006426	T	0.50582	0.1624	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.25082	-1.0142	10	0.33141	T	0.24	.	19.9525	0.97208	0.0:0.0:1.0:0.0	.	195;195	B1AUU8;P42566	.;EPS15_HUMAN	V	195	ENSP00000360795:A195V;ENSP00000360798:A195V	ENSP00000360795:A195V	A	-	2	0	EPS15	51686373	1.000000	0.71417	0.969000	0.41365	0.997000	0.91878	9.869000	0.99810	2.719000	0.93026	0.655000	0.94253	GCA	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022422.1		-	ENST00000371733.3	Missense_Mutation	SNP	1 : 51913785 - 51913785 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	462	52
FAT4	79633	broad.mit.edu	37	4	126242165	126242165	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126242165C>T	ENST00000394329.3	+	1	4612	c.4599C>T	c.(4597-4599)aaC>aaT	p.N1533N		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1533	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TATCACAAAACGCCCTTGCTG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,3912		0,0,1956	160	148	152		4599	-7.1	0.9	4		152	1,8305		0,1,4152	no	coding-synonymous	FAT4	NM_024582.4		0,1,6108	TT,TC,CC	NA	0.012,0.0,0.0082		1533/4982	126242165	1,12217	1956	4153	6109	SO:0001819	synonymous_variant			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159	79633	79633		Cadherins / Cadherin-related	23109	protein-coding gene	gene with protein product	cadherin-related family member 11	612411	FAT tumor suppressor homolog 4 (Drosophila)		NA	15003449	Standard	NM_024582	NM_024582	NA	Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4599C>T	4.37:g.126242165C>T		NA	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	37	CCDS3732.3																																																																																			FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256765.2		+	ENST00000394329.3	Silent	SNP	4 : 126242165 - 126242165 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	818	184
C10orf88	80007	broad.mit.edu	37	10	124691977	124691977	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124691977T>C	ENST00000481909.1	-	6	1528	c.1304A>G	c.(1303-1305)gAc>gGc	p.D435G	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	435										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		TTCTCCAGAGTCATAATGTCT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	89	91			NA	NA	10		NA											NA				124691977		2203	4300	6503	SO:0001583	missense			AK023552	CCDS7632.1	10q26.13	2012-11-09			ENSG00000119965	ENSG00000119965	80007	80007			25822	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024942	NM_024942	NA	Approved	FLJ13490, Em:AC073585.5	uc001lgw.2	Q9H8K7	OTTHUMG00000019190	ENST00000481909.1:c.1304A>G	10.37:g.124691977T>C	ENSP00000419126:p.Asp435Gly	NA	Q0P6C6|Q8N597	37	CCDS7632.1	.	.	.	.	.	.	.	.	.	.	T	13.10	2.136030	0.37728	.	.	ENSG00000119965	ENST00000481909	.	.	.	4.83	3.67	0.42095	.	0.314175	0.26103	U	0.026322	T	0.53206	0.1782	M	0.69823	2.125	0.34834	D	0.740018	B	0.27997	0.197	B	0.28465	0.09	T	0.60954	-0.7160	9	0.66056	D	0.02	.	6.5949	0.22667	0.1534:0.0:0.1601:0.6865	.	435	Q9H8K7	CJ088_HUMAN	G	435	.	ENSP00000419126:D435G	D	-	2	0	C10orf88	124681967	0.996000	0.38824	0.979000	0.43373	0.974000	0.67602	0.855000	0.27805	0.655000	0.30866	0.533000	0.62120	GAC	C10orf88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050807.1		-	ENST00000481909.1	Missense_Mutation	SNP	10 : 124691977 - 124691977 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	258	57
CP	1356	broad.mit.edu	37	3	148939510	148939510	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148939510A>G	ENST00000264613.6	-	1	332	c.70T>C	c.(70-72)Tat>Cat	p.Y24H		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	24	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CCAATGTAATAATGCTTTTCT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	71	70			NA	NA	3		NA											NA				148939510		2203	4299	6502	SO:0001583	missense			M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1356	1356	1.16.3.1		2295	protein-coding gene	gene with protein product		117700			NA		Standard	NM_000096	NM_000096	NA	Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.70T>C	3.37:g.148939510A>G	ENSP00000264613:p.Tyr24His	NA	Q14063|Q2PP18|Q9UKS4	37	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	A	19.45	3.830786	0.71258	.	.	ENSG00000047457	ENST00000264613;ENST00000455472	D;D	0.99735	-5.42;-6.58	5.2	5.2	0.72013	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99518	0.9828	L	0.60904	1.88	0.53688	D	0.999978	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98164	1.0448	10	0.62326	D	0.03	-29.6919	14.1762	0.65542	1.0:0.0:0.0:0.0	.	24;24	A8K5A4;P00450	.;CERU_HUMAN	H	24	ENSP00000264613:Y24H;ENSP00000426888:Y24H	ENSP00000264613:Y24H	Y	-	1	0	CP	150422200	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.316000	0.59178	2.097000	0.63578	0.482000	0.46254	TAT	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317498.1		-	ENST00000264613.6	Missense_Mutation	SNP	3 : 148939510 - 148939510 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	402	88
ECHDC1	55862	broad.mit.edu	37	6	127611094	127611094	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127611094C>T	ENST00000531967.1	-	6	1347	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	ECHDC1_ENST00000430841.2_Missense_Mutation_p.E276K|ECHDC1_ENST00000454859.3_Missense_Mutation_p.E276K|ECHDC1_ENST00000309620.9_Missense_Mutation_p.E259K|ECHDC1_ENST00000474289.2_Missense_Mutation_p.E276K|ECHDC1_ENST00000368291.2_3'UTR|ECHDC1_ENST00000528402.1_3'UTR|ECHDC1_ENST00000368289.2_3'UTR|ECHDC1_ENST00000454591.2_Missense_Mutation_p.E201K	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	282							catalytic activity			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		AGATCTCTTTCGTTCTGTAAT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	102	104			NA	NA	6		NA											NA				127611094		1818	4075	5893	SO:0001583	missense			AK025796	CCDS34530.1, CCDS43504.1, CCDS47471.1, CCDS47472.1, CCDS55054.1	6q22.33	2011-12-12	2010-04-30		ENSG00000093144	ENSG00000093144	55862	55862			21489	protein-coding gene	gene with protein product		612136	enoyl Coenzyme A hydratase domain containing 1		NA	22016388	Standard		NM_001002030	NA	Approved	dJ351K20.2	uc003qax.3	Q9NTX5	OTTHUMG00000015523	ENST00000531967.1:c.844G>A	6.37:g.127611094C>T	ENSP00000436585:p.Glu282Lys	NA	A6NFJ5|Q5TEG4	37	CCDS47471.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870546	0.91587	.	.	ENSG00000093144	ENST00000454859;ENST00000531967;ENST00000474289;ENST00000454591;ENST00000309620;ENST00000430841	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	5.22	4.36	0.52297	.	0.045054	0.85682	N	0.000000	D	0.86952	0.6057	M	0.88640	2.97	0.58432	D	0.999998	D	0.89917	1.0	D	0.79108	0.992	D	0.89839	0.4001	10	0.87932	D	0	-3.0695	14.0748	0.64882	0.0:0.9269:0.0:0.0731	.	282	Q9NTX5	ECHD1_HUMAN	K	276;282;276;201;259;276	ENSP00000401751:E276K;ENSP00000436585:E282K;ENSP00000434908:E276K;ENSP00000404866:E201K;ENSP00000311115:E259K;ENSP00000402492:E276K	ENSP00000311115:E259K	E	-	1	0	ECHDC1	127652787	1.000000	0.71417	0.727000	0.30756	0.953000	0.61014	7.249000	0.78278	1.331000	0.45412	0.563000	0.77884	GAA	ECHDC1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042131.2		-	ENST00000531967.1	Missense_Mutation	SNP	6 : 127611094 - 127611094 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	744	145
FDX1	2230	broad.mit.edu	37	11	110327671	110327671	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110327671A>G	ENST00000260270.2	+	3	578	c.340A>G	c.(340-342)Acc>Gcc	p.T114A		NM_004109.4	NP_004100.1	P10109	ADX_HUMAN	ferredoxin 1	114	2Fe-2S ferredoxin-type.				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding			lung(2)	2		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	Mitotane(DB00648)	GGCTTGTTCAACCTGTCACCT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													327	271	290			NA	NA	11		NA											NA				110327671		2201	4298	6499	SO:0001583	missense			M23668	CCDS8344.1	11q22.3	2008-02-01			ENSG00000137714	ENSG00000137714	2230	2230			3638	protein-coding gene	gene with protein product	adrenodoxin	103260		FDX	NA	2969697	Standard	NM_004109	NM_004109	NA	Approved	ADX	uc001pkx.3	P10109	OTTHUMG00000166589	ENST00000260270.2:c.340A>G	11.37:g.110327671A>G	ENSP00000260270:p.Thr114Ala	NA	B0YJ14|Q53YD6	37	CCDS8344.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409904	0.83340	.	.	ENSG00000137714	ENST00000260270	.	.	.	5.46	5.46	0.80206	Beta-grasp fold, ferredoxin-type (1);Ferredoxin (3);	0.000000	0.85682	D	0.000000	D	0.88183	0.6368	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92310	0.5857	9	0.87932	D	0	.	15.2051	0.73173	1.0:0.0:0.0:0.0	.	114	P10109	ADX_HUMAN	A	114	.	ENSP00000260270:T114A	T	+	1	0	FDX1	109832881	1.000000	0.71417	0.868000	0.34077	0.741000	0.42261	7.136000	0.77285	2.075000	0.62263	0.459000	0.35465	ACC	FDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390590.1		+	ENST00000260270.2	Missense_Mutation	SNP	11 : 110327671 - 110327671 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1255	231
UNC5D	137970	broad.mit.edu	37	8	35583857	35583857	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:35583857G>T	ENST00000287272.2	+	9	1304	c.1284G>T	c.(1282-1284)gaG>gaT	p.E428D	UNC5D_ENST00000453357.2_Missense_Mutation_p.E492D|UNC5D_ENST00000420357.1_Missense_Mutation_p.E430D|UNC5D_ENST00000416672.1_Missense_Mutation_p.E502D|UNC5D_ENST00000404895.2_Missense_Mutation_p.E497D|UNC5D_ENST00000449677.1_Missense_Mutation_p.E73D			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	497					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GAGTGTCTGAGAGAGCTGAGT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	78	78			NA	NA	8		NA											NA				35583857		2203	4300	6503	SO:0001583	missense			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687	137970	137970		Immunoglobulin superfamily / I-set domain containing	18634	protein-coding gene	gene with protein product					NA	18402767	Standard		NM_080872	NA	Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000287272.2:c.1284G>T	8.37:g.35583857G>T	ENSP00000287272:p.Glu428Asp	NA	Q8WYP7	37		.	.	.	.	.	.	.	.	.	.	G	3.978	-0.007080	0.07773	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.53423	0.65;1.11;1.14;0.65;0.62;2.6	6.04	0.374	0.16183	.	0.298550	0.41605	N	0.000856	T	0.18509	0.0444	N	0.11789	0.175	0.33498	D	0.589572	B;B;B;B	0.10296	0.003;0.001;0.001;0.001	B;B;B;B	0.09377	0.004;0.002;0.004;0.002	T	0.31806	-0.9930	10	0.02654	T	1	-15.9669	3.5666	0.07903	0.1971:0.2926:0.4098:0.1005	.	73;502;492;497	E9PDS8;C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;.;UNC5D_HUMAN	D	497;430;428;502;492;73	ENSP00000385143:E497D;ENSP00000392739:E430D;ENSP00000287272:E428D;ENSP00000412652:E502D;ENSP00000394303:E492D;ENSP00000397211:E73D	ENSP00000287272:E428D	E	+	3	2	UNC5D	35703399	0.011000	0.17503	0.998000	0.56505	0.888000	0.51559	-0.587000	0.05780	0.113000	0.18004	0.563000	0.77884	GAG	UNC5D-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000347597.1		+	ENST00000287272.2	Missense_Mutation	SNP	8 : 35583857 - 35583857 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	304	40
MSH4	4438	broad.mit.edu	37	1	76262729	76262729	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:76262729C>T	ENST00000263187.3	+	1	163	c.59C>T	c.(58-60)tCg>tTg	p.S20L		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	20				SS -> VV (in Ref. 1; AAB72039).	chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TCCCCGTCGTCGGGAGAAACC	0.602		NA						Mismatch excision repair (MMR)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	36	35			NA	NA	1		NA											NA				76262729		2203	4300	6503	SO:0001583	missense			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468	4438	4438			7327	protein-coding gene	gene with protein product		602105	mutS (E. coli) homolog 4, mutS homolog 4 (E. coli)		NA	9299235	Standard	NM_002440	NM_002440	NA	Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.59C>T	1.37:g.76262729C>T	ENSP00000263187:p.Ser20Leu	NA	Q5T4U6|Q8NEB3|Q9UNP8	37	CCDS670.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.293483	0.23564	.	.	ENSG00000057468	ENST00000263187	D	0.90261	-2.64	3.47	-0.0349	0.13894	.	5.525940	0.00481	N	0.000125	T	0.60157	0.2247	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.60796	-0.7192	10	0.15499	T	0.54	-0.5266	4.8	0.13292	0.0:0.5245:0.2406:0.2349	.	20	O15457	MSH4_HUMAN	L	20	ENSP00000263187:S20L	ENSP00000263187:S20L	S	+	2	0	MSH4	76035317	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	0.061000	0.14366	-0.003000	0.14444	0.462000	0.41574	TCG	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026983.1		+	ENST00000263187.3	Missense_Mutation	SNP	1 : 76262729 - 76262729 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	21
PCDH8	5100	broad.mit.edu	37	13	53419069	53419069	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53419069C>A	ENST00000377942.3	-	3	3043		c.e3-1		PCDH8_ENST00000338862.4_Splice_Site	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	NA					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GCCCACAGTCCTAATACGAAA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(36;25 841 9273 49207)							NA				0													57	46	49			NA	NA	13		NA											NA				53419069		2203	4300	6503	SO:0001630	splice_region_variant			AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099	5100	5100		Cadherins / Protocadherins : Non-clustered	8660	protein-coding gene	gene with protein product		603580			NA	9787079, 9315676	Standard	NM_002590	NM_002590	NA	Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2840-1G>T	13.37:g.53419069C>A		NA	B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	37	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938520	0.52972	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8885	0.96919	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PCDH8	52317070	1.000000	0.71417	0.999000	0.59377	0.751000	0.42716	7.487000	0.81328	2.700000	0.92200	0.563000	0.77884	.	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045108.2	Intron	-	ENST00000377942.3	Splice_Site	SNP	13 : 53419069 - 53419069 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	282	19
GRB7	2886	broad.mit.edu	37	17	37899533	37899533	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37899533C>T	ENST00000309156.4	+	5	821	c.564C>T	c.(562-564)taC>taT	p.Y188Y	GRB7_ENST00000394209.2_Silent_p.Y188Y|GRB7_ENST00000309185.3_Silent_p.Y188Y|GRB7_ENST00000445327.2_Silent_p.Y211Y|GRB7_ENST00000394204.1_Silent_p.Y188Y|GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000394211.3_Silent_p.Y188Y	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	188					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCGCCAAGTACGAACTGTTCA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,,	0,4406		0,0,2203	93	89	90		564,633,564,564	-10.1	0.3	17		90	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GRB7	NM_001030002.2,NM_001242442.1,NM_001242443.1,NM_005310.3	,,,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,,,	188/533,211/556,188/533,188/533	37899533	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738	2886	2886		Pleckstrin homology (PH) domain containing, SH2 domain containing	4567	protein-coding gene	gene with protein product		601522			NA		Standard	NM_005310	NM_005310	NA	Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.564C>T	17.37:g.37899533C>T		NA	B2RAV1|B3KNL0|B3KWP9|B7WP75|Q53YD3|Q92568|Q96DF9|Q9Y220	37	CCDS11345.1																																																																																			GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257024.2		+	ENST00000309156.4	Silent	SNP	17 : 37899533 - 37899533 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	410	78
TRAF4	9618	broad.mit.edu	37	17	27076400	27076400	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27076400G>A	ENST00000262395.5	+	7	1347	c.1218G>A	c.(1216-1218)gaG>gaA	p.E406E	TRAF4_ENST00000444415.3_Intron|TRAF4_ENST00000262396.6_Intron	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	406	MATH.				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			ACGTCACTGAGACCTTCCACC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	58	59			NA	NA	17		NA											NA				27076400		2203	4300	6503	SO:0001819	synonymous_variant			X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604	9618	9618		RING-type (C3HC4) zinc fingers	12034	protein-coding gene	gene with protein product		602464			NA	7592751, 7490069	Standard	NM_145751	NM_004295	NA	Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.1218G>A	17.37:g.27076400G>A		NA	O75615|Q14848|Q2KJU4|Q2PJN8	37	CCDS11243.1																																																																																			TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255944.2		+	ENST00000262395.5	Silent	SNP	17 : 27076400 - 27076400 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	339	66
LRCH3	84859	broad.mit.edu	37	3	197566213	197566213	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197566213G>A	ENST00000438796.2	+	10	1317	c.1273G>A	c.(1273-1275)Gcc>Acc	p.A425T	LRCH3_ENST00000441090.2_Missense_Mutation_p.A271T|LRCH3_ENST00000334859.4_Missense_Mutation_p.A425T|LRCH3_ENST00000425562.2_Missense_Mutation_p.A425T|LRCH3_ENST00000414675.2_Missense_Mutation_p.A397T|LRCH3_ENST00000536618.1_Missense_Mutation_p.A20T			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	425						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		AAAGCCAGTAGCCATTAGGGA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	53	53			NA	NA	3		NA											NA				197566213		2203	4298	6501	SO:0001583	missense			AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001	84859	84859			28637	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_032773	NM_032773	NA	Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000438796.2:c.1273G>A	3.37:g.197566213G>A	ENSP00000399751:p.Ala425Thr	NA	Q96FP9|Q9NT52	37		.	.	.	.	.	.	.	.	.	.	G	11.59	1.682980	0.29872	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562;ENST00000536618	T;T;T;T;T;T	0.44482	2.16;1.53;2.11;2.4;2.18;0.92	5.74	2.91	0.33838	.	0.371383	0.29501	N	0.011961	T	0.23649	0.0572	N	0.14661	0.345	0.22240	N	0.999261	B;B;B;B;B	0.31949	0.054;0.236;0.052;0.054;0.348	B;B;B;B;B	0.32980	0.05;0.05;0.075;0.05;0.156	T	0.19128	-1.0315	10	0.10902	T	0.67	-0.0471	11.7902	0.52065	0.0:0.5848:0.3295:0.0857	.	271;397;425;425;425	E9PD99;B4E0T7;Q96II8-2;Q96II8;Q96II8-3	.;.;.;LRCH3_HUMAN;.	T	425;271;397;425;425;20	ENSP00000399751:A425T;ENSP00000394609:A271T;ENSP00000394965:A397T;ENSP00000334375:A425T;ENSP00000393579:A425T;ENSP00000439083:A20T	ENSP00000334375:A425T	A	+	1	0	LRCH3	199050610	0.304000	0.24472	0.413000	0.26509	0.581000	0.36288	0.873000	0.28052	0.418000	0.25898	-0.182000	0.12963	GCC	LRCH3-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000339960.1		+	ENST00000438796.2	Missense_Mutation	SNP	3 : 197566213 - 197566213 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	228	41
ATXN7L3	56970	broad.mit.edu	37	17	42273420	42273420	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42273420A>G	ENST00000389384.4	-	6	813	c.505T>C	c.(505-507)Tca>Cca	p.S169P	ATXN7L3_ENST00000593073.1_Intron|ATXN7L3_ENST00000454077.2_Missense_Mutation_p.S176P	NM_001098833.1	NP_001092303.1	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3	169					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TGTTTTAATGACTTGGATCTT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	90	91			NA	NA	17		NA											NA				42273420		1856	4094	5950	SO:0001583	missense			AK056002	CCDS42345.1, CCDS45697.1	17q21	2010-03-10			ENSG00000087152	ENSG00000087152	56970	56970			25416	protein-coding gene	gene with protein product					NA	15115762	Standard		NM_001098833	NA	Approved	DKFZp761G2113	uc002ifz.3	Q14CW9		ENST00000389384.4:c.505T>C	17.37:g.42273420A>G	ENSP00000374035:p.Ser169Pro	NA	Q8IY68|Q96N40|Q9NPU5	37	CCDS42345.1	.	.	.	.	.	.	.	.	.	.	A	18.31	3.595838	0.66332	.	.	ENSG00000087152	ENST00000454077;ENST00000389384	.	.	.	4.95	4.95	0.65309	.	0.064498	0.64402	D	0.000005	T	0.58177	0.2104	L	0.36672	1.1	0.58432	D	0.999994	B;D	0.54964	0.005;0.969	B;P	0.52424	0.006;0.698	T	0.59490	-0.7445	9	0.45353	T	0.12	.	13.6304	0.62191	1.0:0.0:0.0:0.0	.	169;176	Q14CW9;Q14CW9-2	AT7L3_HUMAN;.	P	176;169	.	ENSP00000374035:S169P	S	-	1	0	ATXN7L3	39628946	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.799000	0.75160	1.858000	0.53909	0.454000	0.30748	TCA	ATXN7L3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457725.1		-	ENST00000389384.4	Missense_Mutation	SNP	17 : 42273420 - 42273420 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	413	62
TIGD6	81789	broad.mit.edu	37	5	149374485	149374485	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149374485A>C	ENST00000296736.3	-	2	2201	c.1427T>G	c.(1426-1428)cTt>cGt	p.L476R	TIGD6_ENST00000515406.2_Missense_Mutation_p.L476R	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	476					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GAACTGTCTAAGTTTCTGTAC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	91	94			NA	NA	5		NA											NA				149374485		2203	4300	6503	SO:0001583	missense			AK056604	CCDS4301.1	5q33.1	2008-02-05			ENSG00000164296	ENSG00000164296	81789	81789			18332	protein-coding gene	gene with protein product					NA	11230166	Standard	NM_030953	NM_030953	NA	Approved	DKFZp761E2110	uc003lrj.3	Q17RP2	OTTHUMG00000130045	ENST00000296736.3:c.1427T>G	5.37:g.149374485A>C	ENSP00000296736:p.Leu476Arg	NA	B3KTZ8|Q96MQ4|Q9H0X7	37	CCDS4301.1	.	.	.	.	.	.	.	.	.	.	A	13.86	2.364116	0.41902	.	.	ENSG00000164296	ENST00000296736;ENST00000515406	T;T	0.20463	2.07;2.07	4.51	0.74	0.18330	.	0.563343	0.13339	U	0.395337	T	0.22475	0.0542	N	0.24115	0.695	0.22858	N	0.998648	D	0.58620	0.983	P	0.56474	0.799	T	0.12400	-1.0549	10	0.87932	D	0	.	7.6011	0.28077	0.7318:0.0:0.2682:0.0	.	476	Q17RP2	TIGD6_HUMAN	R	476	ENSP00000296736:L476R;ENSP00000425318:L476R	ENSP00000296736:L476R	L	-	2	0	TIGD6	149354678	0.995000	0.38212	0.973000	0.42090	0.828000	0.46876	1.501000	0.35693	0.041000	0.15688	-0.264000	0.10439	CTT	TIGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252324.1		-	ENST00000296736.3	Missense_Mutation	SNP	5 : 149374485 - 149374485 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	66
OR1L4	254973	broad.mit.edu	37	9	125486692	125486692	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125486692T>C	ENST00000259466.1	+	1	424	c.424T>C	c.(424-426)Tgc>Cgc	p.C142R		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						ACCATGGCATTGCCTACTCAT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													247	195	213			NA	NA	9		NA											NA				125486692		2203	4300	6503	SO:0001583	missense				CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939	254973	254973		GPCR / Class A : Olfactory receptors	8216	protein-coding gene	gene with protein product				OR1L5	NA		Standard		NM_001005235	NA	Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.424T>C	9.37:g.125486692T>C	ENSP00000259466:p.Cys142Arg	NA	Q6IFN0|Q96R81	37	CCDS35129.1	.	.	.	.	.	.	.	.	.	.	.	1.757	-0.487723	0.04352	.	.	ENSG00000136939	ENST00000259466	T	0.00241	8.46	4.01	2.83	0.33086	GPCR, rhodopsin-like superfamily (1);	0.201999	0.35495	N	0.003172	T	0.00271	0.0008	M	0.84683	2.71	0.22620	N	0.998922	B	0.06786	0.001	B	0.11329	0.006	T	0.40496	-0.9560	10	0.87932	D	0	-15.3252	8.6337	0.33935	0.0:0.0963:0.0:0.9037	.	142	Q8NGR5	OR1L4_HUMAN	R	142	ENSP00000259466:C142R	ENSP00000259466:C142R	C	+	1	0	OR1L4	124526513	0.993000	0.37304	0.595000	0.28798	0.057000	0.15508	2.350000	0.44063	0.572000	0.29383	0.248000	0.18094	TGC	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053951.1		+	ENST00000259466.1	Missense_Mutation	SNP	9 : 125486692 - 125486692 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	854	186
TBC1D22A	25771	broad.mit.edu	37	22	47393552	47393552	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:47393552C>A	ENST00000337137.4	+	10	1314	c.1148C>A	c.(1147-1149)cCt>cAt	p.P383H	TBC1D22A_ENST00000407381.3_Missense_Mutation_p.P324H|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.P305H|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.P336H	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	383	Rab-GAP TBC.					intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		TTTGCCCAACCTGGGATTCAA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	74	74			NA	NA	22		NA											NA				47393552		2203	4300	6503	SO:0001583	missense			AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611	25771	25771			1309	protein-coding gene	gene with protein product			chromosome 22 open reading frame 4	C22orf4	NA		Standard	NM_014346	XM_005261496	NA	Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.1148C>A	22.37:g.47393552C>A	ENSP00000336724:p.Pro383His	NA	B0QYI2|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	37	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452041	0.84209	.	.	ENSG00000054611	ENST00000337137;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	5.66	5.66	0.87406	Rab-GAP/TBC domain (5);	0.000000	0.85682	D	0.000000	T	0.48607	0.1509	M	0.90870	3.155	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.995;0.996;0.998;0.995	T	0.58188	-0.7680	10	0.72032	D	0.01	.	18.3283	0.90260	0.0:1.0:0.0:0.0	.	383;305;324;383	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	H	383;324;305;336	ENSP00000336724:P383H;ENSP00000384036:P324H;ENSP00000347932:P305H;ENSP00000385634:P336H	ENSP00000336724:P383H	P	+	2	0	TBC1D22A	45772216	1.000000	0.71417	0.981000	0.43875	0.984000	0.73092	6.423000	0.73361	2.654000	0.90174	0.650000	0.86243	CCT	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317600.3		+	ENST00000337137.4	Missense_Mutation	SNP	22 : 47393552 - 47393552 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	418	75
ZNF280D	54816	broad.mit.edu	37	15	56985325	56985325	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56985325T>C	ENST00000559000.1	-	12	2230	c.431A>G	c.(430-432)tAc>tGc	p.Y144C	ZNF280D_ENST00000267807.7_Missense_Mutation_p.Y157C|ZNF280D_ENST00000396245.1_5'UTR|ZNF280D_ENST00000559237.1_Missense_Mutation_p.Y144C			Q6N043	Z280D_HUMAN	zinc finger protein 280D	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TCCCCCTTGGTAATGTGATAA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	86	88			NA	NA	15		NA											NA				56985325		2192	4292	6484	SO:0001583	missense			AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20			54816	54816			25953	protein-coding gene	gene with protein product			suppressor of hairy wing homolog 4 (Drosophila)	SUHW4	NA	10997877	Standard	XM_370867	XM_005254481	NA	Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000559000.1:c.431A>G	15.37:g.56985325T>C	ENSP00000453045:p.Tyr144Cys	NA	A1L495|B2RMT6|Q6MZM6|Q6N085|Q9H0U5|Q9HCI8|Q9NXS0	37		.	.	.	.	.	.	.	.	.	.	T	15.80	2.938903	0.52972	.	.	ENSG00000137871	ENST00000267807;ENST00000455329	T	0.25414	1.8	5.73	3.35	0.38373	.	.	.	.	.	T	0.33904	0.0879	L	0.34521	1.04	0.80722	D	1	D;D	0.56035	0.974;0.971	P;P	0.62813	0.907;0.855	T	0.01739	-1.1284	9	0.45353	T	0.12	-5.1008	10.3731	0.44066	0.262:0.0:0.0:0.738	.	220;157	B4DHL1;Q6N043	.;Z280D_HUMAN	C	157;144	ENSP00000267807:Y157C	ENSP00000267807:Y157C	Y	-	2	0	ZNF280D	54772617	1.000000	0.71417	0.355000	0.25773	0.983000	0.72400	2.039000	0.41193	0.398000	0.25338	0.477000	0.44152	TAC	ZNF280D-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000419442.2		-	ENST00000559000.1	Missense_Mutation	SNP	15 : 56985325 - 56985325 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	301	52
ZNF628	89887	broad.mit.edu	37	19	55993021	55993021	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55993021C>A	ENST00000598519.1	+	3	1014	c.461C>A	c.(460-462)cCc>cAc	p.P154H	ZNF628_ENST00000391718.2_Missense_Mutation_p.P150H			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	150						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CCGGACTGCCCCAAGGCCTTC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	33	33			NA	NA	19		NA											NA				55993021		2203	4297	6500	SO:0001583	missense			AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483	89887	89887		Zinc fingers, C2H2-type	28054	protein-coding gene	gene with protein product	Zinc finger expressed in Embryonal cells and Certain adult organs	610671			NA		Standard	XM_058964	NM_033113	NA	Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.461C>A	19.37:g.55993021C>A	ENSP00000469591:p.Pro154His	NA	Q86X34	37	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	8.323	0.824725	0.16678	.	.	ENSG00000197483	ENST00000391718	T	0.07327	3.2	3.62	1.44	0.22558	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.335977	0.21947	U	0.066785	T	0.14056	0.0340	L	0.38531	1.155	0.22842	N	0.998663	D	0.67145	0.996	D	0.64237	0.923	T	0.04333	-1.0959	10	0.72032	D	0.01	-23.133	7.3843	0.26874	0.1768:0.5201:0.3031:0.0	.	150	Q5EBL2	ZN628_HUMAN	H	150	ENSP00000375598:P150H	ENSP00000375598:P150H	P	+	2	0	ZNF628	60684833	0.335000	0.24748	0.996000	0.52242	0.002000	0.02628	0.487000	0.22356	0.355000	0.24131	-1.997000	0.00446	CCC	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317934.2		+	ENST00000598519.1	Missense_Mutation	SNP	19 : 55993021 - 55993021 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	244	33
DNAH9	1770	broad.mit.edu	37	17	11845625	11845625	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11845625G>A	ENST00000454412.2	+	66	12438	c.12438G>A	c.(12436-12438)aaG>aaA	p.K4146K	DNAH9_ENST00000608377.1_Silent_p.K534K|DNAH9_ENST00000262442.4_Silent_p.K4222K|DNAH9_ENST00000396001.2_3'UTR			Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4222					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGCAGGTCAAGGCACTTCTGG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	158	160			NA	NA	17		NA											NA				11845625		2203	4300	6503	SO:0001819	synonymous_variant			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174	1770	1770		Axonemal dyneins	2953	protein-coding gene	gene with protein product		603330	dynein, axonemal, heavy polypeptide 17-like, dynein, axonemal, heavy polypeptide 9	DNAH17L	NA	8812413, 11247663	Standard	NM_001372	NM_001372	NA	Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000454412.2:c.12438G>A	17.37:g.11845625G>A		NA	O15064|O95494|Q9NQ28	37																																																																																				DNAH9-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000252758.4		+	ENST00000454412.2	Silent	SNP	17 : 11845625 - 11845625 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1051	167
TBCC	6903	broad.mit.edu	37	6	42713042	42713042	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42713042G>A	ENST00000372876.1	-	1	792	c.770C>T	c.(769-771)gCc>gTc	p.A257V	TBCC_ENST00000244625.2_Missense_Mutation_p.A257V	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C	257	C-CAP/cofactor C-like.				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			CTGTTGGCAGGCCACTGCCAG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	66	69			NA	NA	6		NA											NA				42713042		2203	4300	6503	SO:0001583	missense			U61234	CCDS4872.1	6p21.1	2008-02-05	2006-11-21		ENSG00000124659	ENSG00000124659	6903	6903			11580	protein-coding gene	gene with protein product		602971	tubulin-specific chaperone c		NA	8706133, 11847227	Standard	NM_003192	NM_003192	NA	Approved	CFC	uc003osl.3	Q15814	OTTHUMG00000014704	ENST00000372876.1:c.770C>T	6.37:g.42713042G>A	ENSP00000361967:p.Ala257Val	NA	Q53Y43|Q5T787	37	CCDS4872.1	.	.	.	.	.	.	.	.	.	.	G	32	5.173846	0.94807	.	.	ENSG00000124659	ENST00000372876;ENST00000244625	D;D	0.87256	-2.23;-2.23	5.14	5.14	0.70334	CARP motif (1);Tubulin binding cofactor C (1);C-CAP/cofactor C-like domain (1);	0.121363	0.56097	D	0.000036	D	0.91513	0.7320	M	0.81942	2.565	0.58432	D	0.999994	P	0.52842	0.956	P	0.56916	0.809	D	0.91910	0.5539	10	0.59425	D	0.04	-10.8047	18.9802	0.92752	0.0:0.0:1.0:0.0	.	257	Q15814	TBCC_HUMAN	V	257	ENSP00000361967:A257V;ENSP00000244625:A257V	ENSP00000244625:A257V	A	-	2	0	TBCC	42821020	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.664000	0.98607	2.550000	0.86006	0.467000	0.42956	GCC	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040559.1		-	ENST00000372876.1	Missense_Mutation	SNP	6 : 42713042 - 42713042 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	401	37
PCSK9	255738	broad.mit.edu	37	1	55523714	55523714	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55523714G>A	ENST00000302118.5	+	8	1476	c.1186G>A	c.(1186-1188)Gca>Aca	p.A396T	PCSK9_ENST00000543384.1_Missense_Mutation_p.A196T|PCSK9_ENST00000490692.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	396	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						ACCAGGCATTGCAGCCATGAT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(137;1454 1827 5886 22361 42375)							NA				0													66	61	63			NA	NA	1		NA											NA				55523714		2203	4300	6503	SO:0001583	missense			AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174	255738	255738			20001	protein-coding gene	gene with protein product		607786	hypercholesterolemia, autosomal dominant 3	HCHOLA3	NA	12552133, 12730697	Standard	NM_174936	NM_174936	NA	Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.1186G>A	1.37:g.55523714G>A	ENSP00000303208:p.Ala396Thr	NA	A8T640|C0JYY9|Q5PSM5|Q5SZQ2	37	CCDS603.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640571	0.47153	.	.	ENSG00000169174	ENST00000302118;ENST00000543384	D;D	0.89617	-2.54;-2.54	4.39	2.46	0.29980	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.376195	0.24873	N	0.034901	D	0.89357	0.6692	M	0.83953	2.67	0.09310	N	1	P	0.45283	0.855	B	0.43331	0.416	T	0.82133	-0.0608	10	0.56958	D	0.05	-1.1614	11.0881	0.48099	0.0:0.1384:0.7179:0.1437	.	396	Q8NBP7	PCSK9_HUMAN	T	396;196	ENSP00000303208:A396T;ENSP00000441859:A196T	ENSP00000303208:A396T	A	+	1	0	PCSK9	55296302	0.511000	0.26179	0.003000	0.11579	0.118000	0.20060	3.058000	0.49939	0.380000	0.24823	0.563000	0.77884	GCA	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022280.1		+	ENST00000302118.5	Missense_Mutation	SNP	1 : 55523714 - 55523714 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	562	46
COL4A4	1286	broad.mit.edu	37	2	227963476	227963476	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:227963476C>A	ENST00000396625.3	-	19	1345	c.1138G>T	c.(1138-1140)Gaa>Taa	p.E380*	COL4A4_ENST00000329662.7_Nonsense_Mutation_p.E380*	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	380	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCCCCTGTTTCTCCATAGCGG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	48	48			NA	NA	2		NA											NA				227963476		1882	4107	5989	SO:0001587	stop_gained				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052	1286	1286		Collagens	2206	protein-coding gene	gene with protein product	collagen of basement membrane, alpha-4 chain	120131			NA	1639407	Standard	NM_000092	NM_000092	NA	Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1138G>T	2.37:g.227963476C>A	ENSP00000379866:p.Glu380*	NA	A8MTZ1|Q53RW9|Q53S42|Q53WR1	37	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	38	7.188080	0.98121	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	15.3395	0.74284	0.0:1.0:0.0:0.0	.	.	.	.	X	380	.	ENSP00000328553:E380X	E	-	1	0	COL4A4	227671720	1.000000	0.71417	0.988000	0.46212	0.461000	0.32589	4.035000	0.57297	2.701000	0.92244	0.591000	0.81541	GAA	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313770.1		-	ENST00000396625.3	Nonsense_Mutation	SNP	2 : 227963476 - 227963476 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	389	25
PLK3	1263	broad.mit.edu	37	1	45271006	45271006	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45271006G>A	ENST00000372201.4	+	14	1943	c.1704G>A	c.(1702-1704)aaG>aaA	p.K568K	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	568	POLO box 2.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					AGTGGGTCAAGACGGATCAGG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													184	143	157			NA	NA	1		NA											NA				45271006		2203	4300	6503	SO:0001819	synonymous_variant			AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846	1263	1263			2154	protein-coding gene	gene with protein product		602913	cytokine-inducible kinase, polo-like kinase 3 (Drosophila)	CNK	NA	8702627	Standard	NM_004073	NM_004073	NA	Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1704G>A	1.37:g.45271006G>A		NA	Q15767|Q5JR99|Q96CV1	37	CCDS515.1																																																																																			PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000023429.1		+	ENST00000372201.4	Silent	SNP	1 : 45271006 - 45271006 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	465	100
KCNH3	23416	broad.mit.edu	37	12	49933258	49933258	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49933258C>T	ENST00000257981.6	+	1	319	c.59C>T	c.(58-60)aCg>aTg	p.T20M		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	20	PAS.				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						ACCATCGCTACGCGCTTCGAC	0.746		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	24	24			NA	NA	12		NA											NA				49933258		2203	4298	6501	SO:0001583	missense			AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519	23416	23416		Potassium channels, Voltage-gated ion channels / Potassium channels	6252	protein-coding gene	gene with protein product		604527			NA	10455180, 16382104	Standard	NM_012284	NM_012284	NA	Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.59C>T	12.37:g.49933258C>T	ENSP00000257981:p.Thr20Met	NA	Q9UQ06	37	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969310	0.74246	.	.	ENSG00000135519	ENST00000257981	D	0.98762	-5.12	3.49	3.49	0.39957	PAS (1);	0.000000	0.33959	N	0.004391	D	0.98760	0.9583	M	0.83953	2.67	0.44852	D	0.997869	D	0.76494	0.999	P	0.59643	0.861	D	0.98832	1.0751	10	0.66056	D	0.02	.	12.8748	0.57984	0.0:1.0:0.0:0.0	.	20	Q9ULD8	KCNH3_HUMAN	M	20	ENSP00000257981:T20M	ENSP00000257981:T20M	T	+	2	0	KCNH3	48219525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.530000	0.53539	1.954000	0.56735	0.561000	0.74099	ACG	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404571.2		+	ENST00000257981.6	Missense_Mutation	SNP	12 : 49933258 - 49933258 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	193	40
THAP10	56906	broad.mit.edu	37	15	71174954	71174954	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:71174954G>A	ENST00000249861.4	-	3	1125	c.613C>T	c.(613-615)Ctg>Ttg	p.L205L	LRRC49_ENST00000544974.2_Intron	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	205							DNA binding|metal ion binding	p.L205M(1)		NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GCATTACACAGTCTTTTTCCA	0.363		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)											121	116	118			NA	NA	15		NA											NA				71174954		2199	4297	6496	SO:0001819	synonymous_variant			AL360202	CCDS10237.1	15q22.32	2013-01-25			ENSG00000129028	ENSG00000129028	56906	56906		THAP (C2CH-type zinc finger) domain containing	23193	protein-coding gene	gene with protein product		612538			NA	12575992	Standard	NM_020147	NM_020147	NA	Approved		uc002asv.3	Q9P2Z0	OTTHUMG00000133388	ENST00000249861.4:c.613C>T	15.37:g.71174954G>A		NA	B2R8R0	37	CCDS10237.1																																																																																			THAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257242.2		-	ENST00000249861.4	Silent	SNP	15 : 71174954 - 71174954 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	399	84
CCDC92	80212	broad.mit.edu	37	12	124421736	124421736	+	Missense_Mutation	SNP	C	C	T	rs34103982	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124421736C>T	ENST00000545891.1	-	4	1036	c.814G>A	c.(814-816)Gtc>Atc	p.V272I	CCDC92_ENST00000545135.1_Missense_Mutation_p.V272I|CCDC92_ENST00000238156.3_Missense_Mutation_p.V289I|CCDC92_ENST00000544798.1_Intron			Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	289										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		GCCACCCCGACGTGGGCCTTG	0.697		NA											C	3	0.0014	0.01	NA	2184	NA	0.9998	,	,	NA	3e-04	NA	NA	NA	0.0015	0.9405	EXOME	NA	NA	8e-04	SNP								NA				0								C	ILE/VAL	14,4388		0,14,2187	21	22	22		865	4.5	1	12	dbSNP_126	22	0,8594		0,0,4297	no	missense	CCDC92	NM_025140.1	29	0,14,6484	TT,TC,CC	NA	0.0,0.318,0.1077	benign	289/332	124421736	14,12982	2201	4297	6498	SO:0001583	missense			AK026124	CCDS9256.1	12q24.31	2011-09-02			ENSG00000119242	ENSG00000119242	80212	80212			29563	protein-coding gene	gene with protein product	limkain beta 2				NA	12477932	Standard	NM_025140	NM_025140	NA	Approved	FLJ22471	uc001ufw.1	Q53HC0	OTTHUMG00000168725	ENST00000545891.1:c.814G>A	12.37:g.124421736C>T	ENSP00000440024:p.Val272Ile	NA	Q9H697	37		3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	12.24	1.877744	0.33162	0.00318	0.0	ENSG00000119242	ENST00000238156;ENST00000545135;ENST00000545891	T;T;T	0.26067	1.76;1.8;1.8	5.43	4.53	0.55603	.	0.197295	0.44097	N	0.000489	T	0.10035	0.0246	N	0.12746	0.255	0.38912	D	0.957564	B	0.21821	0.061	B	0.17098	0.017	T	0.08493	-1.0719	10	0.37606	T	0.19	-16.8421	9.9182	0.41448	0.0:0.7836:0.0:0.2164	rs34103982	289	Q53HC0	CCD92_HUMAN	I	289;272;272	ENSP00000238156:V289I;ENSP00000439526:V272I;ENSP00000440024:V272I	ENSP00000238156:V289I	V	-	1	0	CCDC92	122987689	0.993000	0.37304	0.990000	0.47175	0.309000	0.27889	0.366000	0.20365	1.261000	0.44149	0.505000	0.49811	GTC	CCDC92-003	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000400791.1		-	ENST00000545891.1	Missense_Mutation	SNP	12 : 124421736 - 124421736 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	34
DDX24	57062	broad.mit.edu	37	14	94526811	94526811	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94526811C>A	ENST00000555054.1	-	5	1508	c.1417G>T	c.(1417-1419)Gct>Tct	p.A473S	DDX24_ENST00000544005.1_Missense_Mutation_p.A266S|DDX24_ENST00000330836.5_Missense_Mutation_p.A516S			Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	516	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CGAGCAGGAGCCTGATGCACC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													193	179	184			NA	NA	14		NA											NA				94526811		2203	4300	6503	SO:0001583	missense			AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737	57062	57062		DEAD-boxes	13266	protein-coding gene	gene with protein product		606181	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24, DEAD (Asp-Glu-Ala-Asp) box polypeptide 24		NA	10936056, 18289627	Standard	NM_020414	NM_020414	NA	Approved		uc001ycj.3	Q9GZR7		ENST00000555054.1:c.1417G>T	14.37:g.94526811C>A	ENSP00000452145:p.Ala473Ser	NA		37		.	.	.	.	.	.	.	.	.	.	C	11.91	1.780661	0.31502	.	.	ENSG00000089737	ENST00000330836;ENST00000544005;ENST00000440370;ENST00000543787;ENST00000555054;ENST00000542247	T;T;T	0.04706	3.57;3.57;3.57	5.36	3.5	0.40072	DEAD-like helicase (2);	0.588254	0.19785	N	0.106136	T	0.02970	0.0088	N	0.14661	0.345	0.32623	N	0.523092	B	0.22414	0.069	B	0.26614	0.071	T	0.35101	-0.9802	10	0.12430	T	0.62	-0.1179	7.8637	0.29524	0.0:0.6935:0.1462:0.1603	.	516	Q9GZR7	DDX24_HUMAN	S	516;266;461;142;473;473	ENSP00000328690:A516S;ENSP00000440623:A266S;ENSP00000452145:A473S	ENSP00000328690:A516S	A	-	1	0	DDX24	93596564	0.908000	0.30866	0.988000	0.46212	0.653000	0.38743	0.647000	0.24812	0.713000	0.32060	0.563000	0.77884	GCT	DDX24-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000412863.1		-	ENST00000555054.1	Missense_Mutation	SNP	14 : 94526811 - 94526811 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	938	160
DNAJC22	79962	broad.mit.edu	37	12	49743036	49743036	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49743036G>T	ENST00000549441.2	+	3	1585	c.381G>T	c.(379-381)caG>caT	p.Q127H	DNAJC22_ENST00000395069.3_Missense_Mutation_p.Q127H			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	127					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						TTGGCAACCAGACCTCAGACT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	121	123			NA	NA	12		NA											NA				49743036		2203	4300	6503	SO:0001583	missense			AK055747	CCDS8785.1	12q13.12	2011-09-02		2008-07-08	ENSG00000178401	ENSG00000178401	79962	79962		Heat shock proteins / DNAJ (HSP40)	25802	protein-coding gene	gene with protein product	wurst homolog (Drosophila)				NA	17558392	Standard	NM_024902	NM_024902	NA	Approved	wus, FLJ13236	uc001rua.3	Q8N4W6		ENST00000549441.2:c.381G>T	12.37:g.49743036G>T	ENSP00000446830:p.Gln127His	NA	B3KP54	37	CCDS8785.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468563	0.63625	.	.	ENSG00000178401	ENST00000549441;ENST00000395069	T;T	0.45668	0.89;0.89	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.57388	0.2050	M	0.64997	1.995	0.49299	D	0.999776	D	0.89917	1.0	D	0.85130	0.997	T	0.60271	-0.7296	10	0.87932	D	0	-12.8666	7.8686	0.29552	0.1798:0.0:0.8202:0.0	.	127	Q8N4W6	DJC22_HUMAN	H	127	ENSP00000446830:Q127H;ENSP00000378508:Q127H	ENSP00000378508:Q127H	Q	+	3	2	DNAJC22	48029303	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	4.927000	0.63440	2.399000	0.81585	0.561000	0.74099	CAG	DNAJC22-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404302.2		+	ENST00000549441.2	Missense_Mutation	SNP	12 : 49743036 - 49743036 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	990	186
ABL2	27	broad.mit.edu	37	1	179078040	179078040	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179078040A>T	ENST00000502732.1	-	12	2565	c.2362T>A	c.(2362-2364)Tcc>Acc	p.S788T	ABL2_ENST00000512653.1_Missense_Mutation_p.S773T|ABL2_ENST00000511413.1_Intron|ABL2_ENST00000504405.1_Intron|ABL2_ENST00000344730.3_Intron|ABL2_ENST00000367623.4_Missense_Mutation_p.S767T|ABL2_ENST00000408940.3_Missense_Mutation_p.S752T|ABL2_ENST00000507173.1_Intron	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	788	F-actin-binding (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	AGCCCTGAGGACATGGAAGAT	0.507		NA	T	ETV6	AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1q24-q25	27	v-abl Abelson murine leukemia viral oncogene homolog 2		L	0													135	125	128			NA	NA	1		NA											NA				179078040		2203	4300	6503	SO:0001583	missense			M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322	27	27		SH2 domain containing	77	protein-coding gene	gene with protein product	Abelson-related gene	164690	v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene), v-abl Abelson murine leukemia viral oncogene homolog 2, c-abl oncogene 2, non-receptor tyrosine kinase	ABLL	NA	3787260	Standard	NM_005158	NM_001136001	NA	Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.2362T>A	1.37:g.179078040A>T	ENSP00000427562:p.Ser788Thr	NA	A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	37	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	A	14.23	2.473385	0.43942	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000512653;ENST00000367623	T;T;T;T	0.09445	2.98;2.98;2.98;2.98	5.79	5.79	0.91817	.	0.000000	0.46145	D	0.000319	T	0.13030	0.0316	L	0.27053	0.805	0.53688	D	0.999976	P;P;P;B	0.49559	0.925;0.653;0.925;0.397	P;B;P;B	0.47162	0.54;0.328;0.54;0.155	T	0.01352	-1.1377	10	0.72032	D	0.01	.	15.3166	0.74085	1.0:0.0:0.0:0.0	.	767;788;773;752	P42684-6;P42684;P42684-3;D1MPS6	.;ABL2_HUMAN;.;.	T	788;752;773;767	ENSP00000427562:S788T;ENSP00000386152:S752T;ENSP00000423578:S773T;ENSP00000356595:S767T	ENSP00000356595:S767T	S	-	1	0	ABL2	177344663	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.024000	0.70857	2.207000	0.71202	0.533000	0.62120	TCC	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085174.3		-	ENST00000502732.1	Missense_Mutation	SNP	1 : 179078040 - 179078040 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	746	179
HTR1F	3355	broad.mit.edu	37	3	88040770	88040770	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:88040770G>T	ENST00000319595.4	+	1	925	c.871G>T	c.(871-873)Gca>Tca	p.A291S		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	291					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	AGAACGGAAAGCAGCCACTAC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	77	74			NA	NA	3		NA											NA				88040770		2203	4300	6503	SO:0001583	missense			L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097	3355	3355		5-HT (serotonin) receptors, GPCR / Class A : 5-HT (serotonin) receptors, GPCR only	5292	protein-coding gene	gene with protein product		182134	5-hydroxytryptamine (serotonin) receptor 1F		NA	8384716, 8380639	Standard	NM_000866	NM_000866	NA	Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.871G>T	3.37:g.88040770G>T	ENSP00000322924:p.Ala291Ser	NA		37	CCDS2920.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298939	0.81025	.	.	ENSG00000179097	ENST00000319595	T	0.39787	1.06	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.74581	0.3735	H	0.94345	3.525	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	T	0.82034	-0.0657	10	0.72032	D	0.01	.	16.7988	0.85609	0.0:0.0:1.0:0.0	.	291	P30939	5HT1F_HUMAN	S	291	ENSP00000322924:A291S	ENSP00000322924:A291S	A	+	1	0	HTR1F	88123460	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.823000	0.99369	2.577000	0.86979	0.557000	0.71058	GCA	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352890.1		+	ENST00000319595.4	Missense_Mutation	SNP	3 : 88040770 - 88040770 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	249	37
PDCL	5082	broad.mit.edu	37	9	125585390	125585390	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125585390G>T	ENST00000259467.4	-	3	424	c.259C>A	c.(259-261)Ctg>Atg	p.L87M		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	87					signal transduction|visual perception					endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						TTCTTGATCAGCCTTTCCATC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													251	214	227			NA	NA	9		NA											NA				125585390		2203	4300	6503	SO:0001583	missense			AF083325	CCDS6845.1	9q12-q13	2008-07-21			ENSG00000136940	ENSG00000136940	5082	5082			8770	protein-coding gene	gene with protein product		604421			NA	10095058	Standard	NM_005388	NM_005388	NA	Approved	PhLP, DKFZp564M1863	uc004bmz.2	Q13371	OTTHUMG00000020624	ENST00000259467.4:c.259C>A	9.37:g.125585390G>T	ENSP00000259467:p.Leu87Met	NA	Q96AF1|Q9UEW7|Q9UFL0	37	CCDS6845.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.433300|4.433300	0.83776|0.83776	.|.	.|.	ENSG00000136940|ENSG00000136940	ENST00000436632;ENST00000394285|ENST00000259467	.|T	.|0.54071	.|0.59	5.98|5.98	5.08|5.08	0.68730|0.68730	.|Thioredoxin-like fold (1);Phosducin, thioredoxin-like domain (1);Phosducin, domain 2 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69260|0.69260	0.3091|0.3091	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	.|D;D	.|0.59767	.|0.986;0.986	.|D;D	.|0.64877	.|0.93;0.93	T|T	0.71251|0.71251	-0.4648|-0.4648	5|10	.|0.66056	.|D	.|0.02	-16.2229|-16.2229	14.7352|14.7352	0.69412|0.69412	0.0703:0.0:0.9297:0.0|0.0703:0.0:0.9297:0.0	.|.	.|87;87	.|Q4VXB6;Q13371	.|.;PHLP_HUMAN	D|M	53;75|87	.|ENSP00000259467:L87M	.|ENSP00000259467:L87M	A|L	-|-	2|1	0|2	PDCL|PDCL	124625211|124625211	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	9.470000|9.470000	0.97683|0.97683	2.838000|2.838000	0.97847|0.97847	0.563000|0.563000	0.77884|0.77884	GCT|CTG	PDCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053956.1		-	ENST00000259467.4	Missense_Mutation	SNP	9 : 125585390 - 125585390 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	969	168
SLC16A14	151473	broad.mit.edu	37	2	230911293	230911293	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:230911293G>A	ENST00000295190.4	-	4	1007	c.549C>T	c.(547-549)tgC>tgT	p.C183C		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	183						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CGTACTCTGCGCACAGGTACT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	90	91			NA	NA	2		NA											NA				230911293		2203	4300	6503	SO:0001819	synonymous_variant			BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053	151473	151473		Solute carriers	26417	protein-coding gene	gene with protein product	monocarboxylic acid transporter 14		solute carrier family 16 (monocarboxylic acid transporters), member 14		NA		Standard	NM_152527	NM_152527	NA	Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.549C>T	2.37:g.230911293G>A		NA	A8KA08|Q53R92|Q96NI7	37	CCDS2473.1																																																																																			SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256918.2		-	ENST00000295190.4	Silent	SNP	2 : 230911293 - 230911293 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	718	118
ABCC10	89845	broad.mit.edu	37	6	43400442	43400442	+	Missense_Mutation	SNP	C	C	T	rs147197045		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43400442C>T	ENST00000244533.3	+	1	954	c.595C>T	c.(595-597)Cgg>Tgg	p.R199W	ABCC10_ENST00000372530.4_Missense_Mutation_p.R242W|ABCC10_ENST00000443426.2_Intron	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	242						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TGGAGAGCTCCGGCAGCCTCA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	39	41	40		724,595	4.7	1	6	dbSNP_134	40	1,8599		0,1,4299	no	missense,missense	ABCC10	NM_001198934.1,NM_033450.2	101,101	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	242/1493,199/1465	43400442	1,13005	2203	4300	6503	SO:0001583	missense			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574	89845	89845		ATP binding cassette transporters / subfamily C	52	protein-coding gene	gene with protein product		612509			NA	8894702	Standard	NM_033450	NM_033450	NA	Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000244533.3:c.595C>T	6.37:g.43400442C>T	ENSP00000244533:p.Arg199Trp	NA	Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	37	CCDS4896.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.754339	0.49362	0.0	1.16E-4	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.91124	-2.78;-2.79	5.54	4.66	0.58398	.	0.660669	0.16213	N	0.224391	D	0.83069	0.5174	N	0.24115	0.695	0.09310	N	0.999999	D;D	0.64830	0.994;0.978	P;B	0.51229	0.663;0.232	T	0.78306	-0.2255	10	0.72032	D	0.01	-34.6797	13.566	0.61819	0.4012:0.5988:0.0:0.0	.	199;242	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	W	242;199	ENSP00000361608:R242W;ENSP00000244533:R199W	ENSP00000244533:R199W	R	+	1	2	ABCC10	43508420	0.980000	0.34600	0.973000	0.42090	0.700000	0.40528	2.161000	0.42358	1.316000	0.45131	0.561000	0.74099	CGG	ABCC10-007	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040608.3		+	ENST00000244533.3	Missense_Mutation	SNP	6 : 43400442 - 43400442 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	402	10
DNAAF3	352909	broad.mit.edu	37	19	55677365	55677365	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55677365G>T	ENST00000527223.2	-	3	294	c.293C>A	c.(292-294)cCt>cAt	p.P98H	DNAAF3_ENST00000524407.2_Missense_Mutation_p.P30H|DNAAF3_ENST00000391720.4_Missense_Mutation_p.P77H|CTD-2587H24.5_ENST00000591665.1_RNA	NM_001256714.1	NP_001243643	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	30											NA						GTCCACAGGAGGACCTGGCAA	0.592		NA									OREG0025679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	54	51			NA	NA	19		NA											NA				55677365		2082	4228	6310	SO:0001583	missense			AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646	352909	352909			30492	protein-coding gene	gene with protein product		614566	chromosome 19 open reading frame 51, ciliary dyskinesia, primary 2	C19orf51, CILD2	NA	22387996	Standard	NM_178837	NM_001256714	NA	Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000527223.2:c.293C>A	19.37:g.55677365G>T	ENSP00000436975:p.Pro98His	1009	A8MUY0|Q6P4F6|Q8N9W0|Q96AR2	37	CCDS58680.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342162	0.61073	.	.	ENSG00000167646	ENST00000301249;ENST00000391720;ENST00000528476	T	0.19250	2.16	4.04	4.04	0.47022	.	0.537042	0.17764	N	0.162820	T	0.37972	0.1023	L	0.46157	1.445	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.762	D;D;B	0.91635	0.999;0.999;0.322	T	0.03807	-1.1002	10	0.38643	T	0.18	-15.3588	13.5725	0.61856	0.0:0.0:1.0:0.0	.	98;51;30	E9PAX5;Q8N9W5-3;Q8N9W5	.;.;CS051_HUMAN	H	98;77;98	ENSP00000375600:P77H	ENSP00000301249:P98H	P	-	2	0	C19orf51	60369177	1.000000	0.71417	0.927000	0.36925	0.512000	0.34134	3.527000	0.53517	2.255000	0.74692	0.561000	0.74099	CCT	DNAAF3-001	KNOWN	downstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250386.4		-	ENST00000527223.2	Missense_Mutation	SNP	19 : 55677365 - 55677365 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	42
RHOBTB1	9886	broad.mit.edu	37	10	62670660	62670660	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:62670660C>T	ENST00000337910.5	-	4	618	c.281G>A	c.(280-282)cGc>cAc	p.R94H	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.R94H	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	94	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					ATATGCAAAGCGTCTGTCTTT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	106	114			NA	NA	10		NA											NA				62670660		2203	4300	6503	SO:0001583	missense			AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422	9886	9886		BTB/POZ domain containing	18738	protein-coding gene	gene with protein product		607351			NA	11222756	Standard		NM_014836	NA	Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.281G>A	10.37:g.62670660C>T	ENSP00000338671:p.Arg94His	NA		37	CCDS7261.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994195	0.93167	.	.	ENSG00000072422	ENST00000357917;ENST00000337910;ENST00000536302	T;T	0.77229	-1.08;-1.08	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.87609	0.6220	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.87654	0.2530	10	0.72032	D	0.01	.	20.1082	0.97900	0.0:1.0:0.0:0.0	.	94	O94844	RHBT1_HUMAN	H	94	ENSP00000350595:R94H;ENSP00000338671:R94H	ENSP00000338671:R94H	R	-	2	0	RHOBTB1	62340666	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	5.964000	0.70379	2.764000	0.94973	0.555000	0.69702	CGC	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048220.1		-	ENST00000337910.5	Missense_Mutation	SNP	10 : 62670660 - 62670660 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	243	38
FGD2	221472	broad.mit.edu	37	6	36982780	36982780	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36982780G>A	ENST00000274963.8	+	8	1166	c.995G>A	c.(994-996)cGc>cAc	p.R332H		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	332	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						ATCTCCTTCCGCCGCAACGAC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	57	61			NA	NA	6		NA											NA				36982780		2203	4300	6503	SO:0001583	missense			AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192	221472	221472		Zinc fingers, FYVE domain containing, Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	3664	protein-coding gene	gene with protein product		605091	FGD1 family, member 2		NA	10458911	Standard	NM_173558	NM_173558	NA	Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.995G>A	6.37:g.36982780G>A	ENSP00000274963:p.Arg332His	NA	Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	37	CCDS4829.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006673	0.93287	.	.	ENSG00000146192	ENST00000274963	T	0.78126	-1.15	4.57	4.57	0.56435	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.43260	D	0.000593	D	0.84279	0.5437	M	0.63843	1.955	0.47037	D	0.999295	D	0.89917	1.0	D	0.91635	0.999	D	0.86284	0.1669	10	0.87932	D	0	0.4254	17.1483	0.86772	0.0:0.0:1.0:0.0	.	332	Q7Z6J4	FGD2_HUMAN	H	332	ENSP00000274963:R332H	ENSP00000274963:R332H	R	+	2	0	FGD2	37090758	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	3.847000	0.55895	2.367000	0.80283	0.561000	0.74099	CGC	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040398.2		+	ENST00000274963.8	Missense_Mutation	SNP	6 : 36982780 - 36982780 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	284	51
ABCA13	154664	broad.mit.edu	37	7	48311809	48311809	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48311809A>C	ENST00000435803.1	+	17	2570	c.2546A>C	c.(2545-2547)aAa>aCa	p.K849T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	849					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AAAAGAGCTAAATTGGAAAAC	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	36	36			NA	NA	7		NA											NA				48311809		1784	4057	5841	SO:0001583	missense			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869	154664	154664		ATP binding cassette transporters / subfamily A	14638	protein-coding gene	gene with protein product		607807			NA	12697998	Standard	NM_152701	NM_152701	NA	Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.2546A>C	7.37:g.48311809A>C	ENSP00000411096:p.Lys849Thr	NA	Q6ZTT7|Q86WI2|Q8N248	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	3.387	-0.125226	0.06795	.	.	ENSG00000179869	ENST00000435803	D	0.87966	-2.32	5.86	3.45	0.39498	.	0.650904	0.14020	N	0.346875	T	0.76912	0.4054	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.58934	-0.7548	10	0.17832	T	0.49	.	6.849	0.24005	0.5738:0.2762:0.0:0.15	.	849	Q86UQ4	ABCAD_HUMAN	T	849	ENSP00000411096:K849T	ENSP00000411096:K849T	K	+	2	0	ABCA13	48282355	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.306000	0.19279	0.461000	0.27071	-0.299000	0.09455	AAA	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341964.2		+	ENST00000435803.1	Missense_Mutation	SNP	7 : 48311809 - 48311809 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	232	40
RET	5979	broad.mit.edu	37	10	43612162	43612162	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43612162C>A	ENST00000355710.3	+	12	2499	c.2267C>A	c.(2266-2268)gCc>gAc	p.A756D	RET_ENST00000340058.5_Missense_Mutation_p.A756D	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	756	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.A756V(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	ACCACGGTGGCCGTGAAGATG	0.602		1	T, Mis, N, F	H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6	medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC	medullary thyroid,  papillary thyroid, pheochromocytoma	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	E, O	1	Substitution - Missense(1)	large_intestine(1)											105	111	109			NA	NA	10		NA											NA				43612162		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731	5979	5979		Cadherins / Cadherin-related	9967	protein-coding gene	gene with protein product	cadherin-related family member 16	164761	multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease 1	HSCR1, MEN2A, MTC1, MEN2B	NA	2687772, 1611909	Standard	NM_020975	NM_020975	NA	Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2267C>A	10.37:g.43612162C>A	ENSP00000347942:p.Ala756Asp	NA	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	37	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	32	5.153002	0.94645	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	D;D	0.95980	-3.87;-3.87	5.65	5.65	0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98516	0.9505	H	0.94620	3.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99253	1.0888	10	0.87932	D	0	.	19.7216	0.96145	0.0:1.0:0.0:0.0	.	502;756;756	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	D	756	ENSP00000347942:A756D;ENSP00000344798:A756D	ENSP00000344798:A756D	A	+	2	0	RET	42932168	1.000000	0.71417	0.987000	0.45799	0.961000	0.63080	7.818000	0.86416	2.664000	0.90586	0.655000	0.94253	GCC	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047694.2		+	ENST00000355710.3	Missense_Mutation	SNP	10 : 43612162 - 43612162 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	797	31
NUP50	10762	broad.mit.edu	37	22	45577225	45577225	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45577225A>C	ENST00000347635.4	+	6	1528	c.1062A>C	c.(1060-1062)gaA>gaC	p.E354D	NUP50_ENST00000396096.2_Missense_Mutation_p.E326D|NUP50_ENST00000425733.2_Missense_Mutation_p.E104D|NUP50_ENST00000407019.2_Missense_Mutation_p.E326D	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	NA	RanBD1.				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AAGTAAAAGAAGAAGATGCTT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	83	82			NA	NA	22		NA											NA				45577225		2203	4300	6503	SO:0001583	missense			AF107840	CCDS14062.1, CCDS14063.1	22q13.3	2007-01-22	2002-08-29		ENSG00000093000	ENSG00000093000	10762	10762			8065	protein-coding gene	gene with protein product		604646	nucleoporin 50kD	NPAP60L	NA	10449902	Standard		XM_005261312	NA	Approved		uc003bfr.3	Q9UKX7	OTTHUMG00000151265	ENST00000347635.4:c.1062A>C	22.37:g.45577225A>C	ENSP00000345895:p.Glu354Asp	NA	B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5	37	CCDS14062.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.920281	0.73098	.	.	ENSG00000093000	ENST00000347635;ENST00000407019;ENST00000425733;ENST00000396096;ENST00000422489	T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35	5.72	3.58	0.41010	Pleckstrin homology-type (1);Ran binding protein 1 (3);	0.000000	0.85682	D	0.000000	T	0.52725	0.1752	M	0.70275	2.135	0.58432	D	0.999998	D;P	0.60160	0.987;0.919	D;D	0.79108	0.992;0.934	T	0.47018	-0.9149	10	0.20046	T	0.44	-42.6985	9.3837	0.38329	0.7895:0.0:0.2105:0.0	.	104;354	B4E2D3;Q9UKX7	.;NUP50_HUMAN	D	354;326;104;326;133	ENSP00000345895:E354D;ENSP00000385555:E326D;ENSP00000406928:E104D;ENSP00000379403:E326D;ENSP00000416264:E133D	ENSP00000345895:E354D	E	+	3	2	NUP50	43955889	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	0.711000	0.25764	0.422000	0.26005	0.529000	0.55759	GAA	NUP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321993.2		+	ENST00000347635.4	Missense_Mutation	SNP	22 : 45577225 - 45577225 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	61
PLXNB3	5365	broad.mit.edu	37	X	153032912	153032912	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153032912G>A	ENST00000361971.5	+	3	744	c.630G>A	c.(628-630)ggG>ggA	p.G210G	PLXNB3_ENST00000538966.1_Silent_p.G233G|PLXNB3_ENST00000538776.1_Intron|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000538543.1_Intron	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	210	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCTGGCCGGGTCTCAGCCCT	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	12	12			NA	NA	X		NA											NA				153032912		2183	4267	6450	SO:0001819	synonymous_variant			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753	5365	5365		Plexins	9105	protein-coding gene	gene with protein product		300214		PLXN6	NA	10520995	Standard		NM_005393	NA	Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.630G>A	X.37:g.153032912G>A		NA	Q9HDA4	37	CCDS14729.1																																																																																			PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000061063.1		+	ENST00000361971.5	Silent	SNP	X : 153032912 - 153032912 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	78	21
FAM19A5	25817	broad.mit.edu	37	22	49042475	49042475	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:49042475C>T	ENST00000358295.5	+	2	333	c.158C>T	c.(157-159)aCg>aTg	p.T53M	FAM19A5_ENST00000402357.1_Missense_Mutation_p.T60M|FAM19A5_ENST00000473898.1_Intron	NM_015381.5	NP_056196.2	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	60						extracellular region|integral to membrane				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		CCTCGGAGGACGATCGCCCGG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	MET/THR,MET/THR	0,4160		0,0,2080	25	33	30		179,158	5.2	1	22		30	2,8432		0,2,4215	no	missense,missense	FAM19A5	NM_001082967.1,NM_015381.5	81,81	0,2,6295	TT,TC,CC	NA	0.0237,0.0,0.0159	probably-damaging,probably-damaging	60/133,53/126	49042475	2,12592	2080	4217	6297	SO:0001583	missense			AY325118	CCDS46728.1, CCDS46729.1	22q13.32	2005-09-20			ENSG00000219438	ENSG00000219438	25817	25817			21592	protein-coding gene	gene with protein product					NA	15028294	Standard	NM_015381	NM_015381	NA	Approved	TAFA-5	uc003bim.4	Q7Z5A7	OTTHUMG00000150308	ENST00000358295.5:c.158C>T	22.37:g.49042475C>T	ENSP00000351043:p.Thr53Met	NA	A6NII9|B0QZ13|B0QZ14|B0QZ15|O95902|Q5H9C4|Q6UWC9|Q8IXR8	37	CCDS46729.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144798	0.77888	0.0	2.37E-4	ENSG00000219438	ENST00000402357;ENST00000336769;ENST00000358295	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	T	0.66636	0.2809	L	0.56769	1.78	0.80722	D	1	P;D	0.60160	0.904;0.987	B;P	0.52758	0.226;0.708	T	0.71224	-0.4656	8	0.87932	D	0	.	17.3357	0.87280	0.0:1.0:0.0:0.0	.	53;60	Q7Z5A7-2;Q7Z5A7	.;F19A5_HUMAN	M	60;60;53	.	ENSP00000336812:T60M	T	+	2	0	FAM19A5	47428911	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.991000	0.76232	2.417000	0.82017	0.655000	0.94253	ACG	FAM19A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317502.1		+	ENST00000358295.5	Missense_Mutation	SNP	22 : 49042475 - 49042475 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	218	34
MACF1	23499	broad.mit.edu	37	1	39910396	39910396	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39910396A>G	ENST00000372915.3	+	79	19278	c.19191A>G	c.(19189-19191)agA>agG	p.R6397R	MACF1_ENST00000545844.1_Silent_p.R4439R|MACF1_ENST00000317713.7_Silent_p.R4439R|MACF1_ENST00000567887.1_Silent_p.R6535R|MACF1_ENST00000361689.2_Silent_p.R4439R|MACF1_ENST00000564288.1_Silent_p.R6498R|MACF1_ENST00000539005.1_Silent_p.R4309R|MACF1_ENST00000289893.4_Silent_p.R4941R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6397					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACAAGGGCAGACTCATGCTTC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	93	95			NA	NA	1		NA											NA				39910396		2203	4300	6503	SO:0001819	synonymous_variant			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603	23499	23499		EF-hand domain containing	13664	protein-coding gene	gene with protein product	actin cross-linking factor, 620 kDa actin binding protein, macrophin 1, trabeculin-alpha, actin cross-linking family protein 7	608271			NA	7635207, 10529403	Standard	NM_033044	NM_012090	NA	Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.19191A>G	1.37:g.39910396A>G		NA	E9PJT0|O75053|Q5VW20|Q8WXY2|Q9H540|Q9UKP0|Q9ULG9	37		.	.	.	.	.	.	.	.	.	.	A	10.48	1.362540	0.24684	.	.	ENSG00000127603	ENST00000372925	.	.	.	6.16	1.01	0.19927	.	.	.	.	.	T	0.58047	0.2095	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50259	-0.8849	4	.	.	.	.	9.8307	0.40939	0.3494:0.0:0.6506:0.0	.	.	.	.	A	3443	.	.	T	+	1	0	MACF1	39682983	1.000000	0.71417	0.983000	0.44433	0.986000	0.74619	0.996000	0.29719	-0.059000	0.13154	-0.248000	0.11899	ACT	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000392096.1		+	ENST00000372915.3	Silent	SNP	1 : 39910396 - 39910396 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	275	33
VAV1	7409	broad.mit.edu	37	19	6848025	6848025	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6848025G>T	ENST00000304076.2	+	22	2057	c.1963G>T	c.(1963-1965)Gag>Tag	p.E655*	VAV1_ENST00000596764.1_Nonsense_Mutation_p.E645*|VAV1_ENST00000539284.1_Nonsense_Mutation_p.E580*|VAV1_ENST00000599806.1_Nonsense_Mutation_p.E622*|VAV1_ENST00000602142.1_Nonsense_Mutation_p.E677*	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	677	SH3 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						AGGCCCCATGGAGCGGGCAGG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	89	88			NA	NA	19		NA											NA				6848025		2203	4300	6503	SO:0001587	stop_gained				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968	7409	7409		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing, SH2 domain containing	12657	protein-coding gene	gene with protein product		164875	vav 1 oncogene	VAV	NA	9438848	Standard		NM_005428	NA	Approved		uc010xjh.2	P15498		ENST00000304076.2:c.1963G>T	19.37:g.6848025G>T	ENSP00000302269:p.Glu655*	NA	Q15860	37	CCDS59341.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926758	0.92319	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	.	.	.	3.68	3.68	0.42216	.	0.065910	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	12.9492	0.58389	0.0:0.0:1.0:0.0	.	.	.	.	X	677;580	.	ENSP00000302269:E677X	E	+	1	0	VAV1	6799025	1.000000	0.71417	0.998000	0.56505	0.175000	0.22909	8.064000	0.89483	1.890000	0.54733	0.313000	0.20887	GAG	VAV1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458474.1		+	ENST00000304076.2	Nonsense_Mutation	SNP	19 : 6848025 - 6848025 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	636	61
EPHB3	2049	broad.mit.edu	37	3	184299391	184299391	+	Missense_Mutation	SNP	C	C	T	rs144473660	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184299391C>T	ENST00000330394.2	+	16	3430	c.2978C>T	c.(2977-2979)aCg>aTg	p.T993M	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	993						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ATGAACCAGACGCTGCCTGTG	0.617		NA											C	1	5e-04	NA	NA	2184	NA	0.9997	,	,	NA	3e-04	0.0013	NA	NA	6e-04	0.8313	EXOME	NA	NA	8e-04	SNP								NA				0													41	39	40			NA	NA	3		NA											NA				184299391		2203	4300	6503	SO:0001583	missense			X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580	2049	2049		EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3394	protein-coding gene	gene with protein product		601839	EphB3	ETK2	NA	8397371	Standard	NM_004443	NM_004443	NA	Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.2978C>T	3.37:g.184299391C>T	ENSP00000332118:p.Thr993Met	NA	Q7Z740	37	CCDS3268.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.94	3.259532	0.59321	.	.	ENSG00000182580	ENST00000330394	T	0.06528	3.29	4.36	4.36	0.52297	Sterile alpha motif/pointed domain (2);	0.000000	0.85682	D	0.000000	T	0.12178	0.0296	N	0.16307	0.4	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.43845	-0.9366	10	0.20519	T	0.43	.	16.7884	0.85580	0.0:1.0:0.0:0.0	.	993	P54753	EPHB3_HUMAN	M	993	ENSP00000332118:T993M	ENSP00000332118:T993M	T	+	2	0	EPHB3	185782085	0.999000	0.42202	0.981000	0.43875	0.946000	0.59487	4.054000	0.57434	2.378000	0.81104	0.643000	0.83706	ACG	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345413.1		+	ENST00000330394.2	Missense_Mutation	SNP	3 : 184299391 - 184299391 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	139	27
WNT4	54361	broad.mit.edu	37	1	22447815	22447815	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22447815G>A	ENST00000290167.6	-	4	520	c.477C>T	c.(475-477)atC>atT	p.I159I	WNT4_ENST00000542383.1_Silent_p.I104I	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN	wingless-type MMTV integration site family, member 4	159					adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CACCGTAGGCGATGTTGTCAG	0.622		NA											G	2	9e-04	0.0041	NA	2184	NA	1	,	,	NA	2e-04	NA	NA	NA	9e-04	0.9768	EXOME	NA	NA	7e-04	SNP								NA				0								G		1,4405	2.1+/-5.4	0,1,2202	104	93	97		477	3.4	1	1		97	0,8600		0,0,4300	no	coding-synonymous	WNT4	NM_030761.4		0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077		159/352	22447815	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AL031281	CCDS223.1	1p36.23-p35.1	2013-02-28			ENSG00000162552	ENSG00000162552	54361	54361		Wingless-type MMTV integration sites, Endogenous ligands	12783	protein-coding gene	gene with protein product		603490			NA	8168088	Standard		NM_030761	NA	Approved	WNT-4	uc001bfs.4	P56705	OTTHUMG00000002894	ENST00000290167.6:c.477C>T	1.37:g.22447815G>A		NA	Q5TZQ0|Q96T81|Q9BXF5|Q9H1J8|Q9UJM2	37	CCDS223.1																																																																																			WNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000008088.2		-	ENST00000290167.6	Silent	SNP	1 : 22447815 - 22447815 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	89
PCDH11X	27328	broad.mit.edu	37	X	91873534	91873534	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:91873534G>A	ENST00000373094.1	+	7	4484	c.3639G>A	c.(3637-3639)ccG>ccA	p.P1213P	PCDH11X_ENST00000298274.8_Silent_p.P1176P|PCDH11X_ENST00000406881.1_Silent_p.P1205P|PCDH11X_ENST00000373088.1_Silent_p.P1176P|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000373097.1_Silent_p.P1203P|PCDH11X_ENST00000361655.2_Silent_p.P1195P	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1213					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCCCACCACCGATACAGGTGT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(38;925 1092 2571 38200 45895)							NA				0													170	135	146			NA	NA	X		NA											NA				91873534		2203	4298	6501	SO:0001819	synonymous_variant			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290	27328	27328		Cadherins / Protocadherins : Non-clustered	8656	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 119	300246	protocadherin 11	PCDH11	NA	10644456	Standard	NM_032969	NM_001168360	NA	Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3639G>A	X.37:g.91873534G>A		NA	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	37	CCDS14461.1																																																																																			PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057436.1		+	ENST00000373094.1	Silent	SNP	X : 91873534 - 91873534 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	524	153
BAI2	576	broad.mit.edu	37	1	32198193	32198193	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32198193G>A	ENST00000373658.3	-	27	3986	c.3645C>T	c.(3643-3645)tgC>tgT	p.C1215C	BAI2_ENST00000527361.1_Silent_p.C1182C|BAI2_ENST00000398538.1_Silent_p.C1203C|BAI2_ENST00000398542.1_Silent_p.C1115C|BAI2_ENST00000440175.2_Silent_p.C824C|BAI2_ENST00000398547.1_Silent_p.C1148C|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000398556.3_Silent_p.C1130C|BAI2_ENST00000257070.4_Silent_p.C1182C|BAI2_ENST00000373655.2_Silent_p.C1215C	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1215					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CCCCCATCTGGCACTTCACCA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	44	46			NA	NA	1		NA											NA				32198193		2203	4300	6503	SO:0001819	synonymous_variant			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753	576	576		-, GPCR / Class B : Orphans	944	protein-coding gene	gene with protein product		602683			NA	9533023	Standard	NM_001703	XM_006710783	NA	Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.3645C>T	1.37:g.32198193G>A		NA	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	37	CCDS346.2																																																																																			BAI2-015	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381838.1		-	ENST00000373658.3	Silent	SNP	1 : 32198193 - 32198193 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	158	11
COL19A1	1310	broad.mit.edu	37	6	70866246	70866246	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70866246A>G	ENST00000322773.4	+	33	2325	c.2223A>G	c.(2221-2223)ggA>ggG	p.G741G	COL19A1_ENST00000393344.1_Silent_p.G363G	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	741	Triple-helical region 4 (COL4).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GAATCCCAGGAAGAGAGGGAC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	96	96			NA	NA	6		NA											NA				70866246		2203	4300	6503	SO:0001819	synonymous_variant				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293	1310	1310		Collagens	2196	protein-coding gene	gene with protein product		120165			NA	7916703, 9143499	Standard		NM_001858	NA	Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2223A>G	6.37:g.70866246A>G		NA	Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	37	CCDS4970.1																																																																																			COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041127.1		+	ENST00000322773.4	Silent	SNP	6 : 70866246 - 70866246 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	454	73
GAS2	2620	broad.mit.edu	37	11	22747968	22747968	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22747968C>T	ENST00000454584.2	+	4	703	c.398C>T	c.(397-399)tCg>tTg	p.S133L	GAS2_ENST00000433790.1_Missense_Mutation_p.S133L|GAS2_ENST00000278187.3_Missense_Mutation_p.S133L	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	133	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						CTATTTGAATCGGAAGGTTTG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	148	146			NA	NA	11		NA											NA				22747968		2203	4300	6503	SO:0001583	missense			BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935	2620	2620			4167	protein-coding gene	gene with protein product		602835			NA	9521882	Standard	NM_177553	NM_005256	NA	Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.398C>T	11.37:g.22747968C>T	ENSP00000401145:p.Ser133Leu	NA	B2R9C8|D3DQZ0|Q6ICV8	37	CCDS7858.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131593	0.56828	.	.	ENSG00000148935	ENST00000528582;ENST00000454584;ENST00000533363;ENST00000278187;ENST00000534801;ENST00000532398;ENST00000433790	D;D;T;D;D;D;D	0.94537	-3.45;-3.45;0.99;-3.45;-3.45;-3.45;-3.45	5.74	4.83	0.62350	Calponin homology domain (5);	0.131423	0.53938	D	0.000051	D	0.97526	0.9190	M	0.91140	3.18	0.58432	D	0.999995	D	0.67145	0.996	P	0.62491	0.903	D	0.98276	1.0506	10	0.72032	D	0.01	-10.6063	16.8958	0.86100	0.0:0.8719:0.1281:0.0	.	133	O43903	GAS2_HUMAN	L	133	ENSP00000432584:S133L;ENSP00000401145:S133L;ENSP00000434478:S133L;ENSP00000278187:S133L;ENSP00000433182:S133L;ENSP00000435946:S133L;ENSP00000396708:S133L	ENSP00000278187:S133L	S	+	2	0	GAS2	22704544	1.000000	0.71417	0.893000	0.35052	0.053000	0.15095	7.818000	0.86416	1.422000	0.47177	-0.172000	0.13284	TCG	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387717.1		+	ENST00000454584.2	Missense_Mutation	SNP	11 : 22747968 - 22747968 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	527	99
SH3RF1	57630	broad.mit.edu	37	4	170037775	170037775	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:170037775G>A	ENST00000284637.9	-	10	2125	c.1784C>T	c.(1783-1785)gCg>gTg	p.A595V	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	595						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CTGGTTGTGCGCTGCAACTAG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	49	47			NA	NA	4		NA											NA				170037775		2198	4292	6490	SO:0001583	missense			BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447	57630	57630		RING-type (C3HC4) zinc fingers	17650	protein-coding gene	gene with protein product	plenty of SH3 domains		SH3 multiple domains 2	SH3MD2	NA	9482736	Standard	NM_020870	NM_020870	NA	Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.1784C>T	4.37:g.170037775G>A	ENSP00000284637:p.Ala595Val	NA	Q05BT2|Q8IW46|Q9HAM2|Q9P234	37	CCDS34099.1	.	.	.	.	.	.	.	.	.	.	G	8.754	0.922011	0.17982	.	.	ENSG00000154447	ENST00000284637	T	0.12465	2.68	5.64	4.68	0.58851	.	0.315261	0.39146	N	0.001448	T	0.09686	0.0238	N	0.25380	0.74	0.20489	N	0.999895	B	0.10296	0.003	B	0.04013	0.001	T	0.14337	-1.0476	10	0.37606	T	0.19	-18.7954	9.7127	0.40256	0.1787:0.0:0.8213:0.0	.	595	Q7Z6J0	SH3R1_HUMAN	V	595	ENSP00000284637:A595V	ENSP00000284637:A595V	A	-	2	0	SH3RF1	170274350	0.984000	0.35163	0.977000	0.42913	0.003000	0.03518	1.641000	0.37197	2.653000	0.90120	0.555000	0.69702	GCG	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363382.3		-	ENST00000284637.9	Missense_Mutation	SNP	4 : 170037775 - 170037775 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	458	72
CLU	1191	broad.mit.edu	37	8	27462673	27462673	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27462673C>T	ENST00000316403.10	-	5	1002	c.597G>A	c.(595-597)gaG>gaA	p.E199E	CLU_ENST00000405140.3_Silent_p.E199E|CLU_ENST00000523500.1_Silent_p.E199E|CLU_ENST00000546343.1_Silent_p.E210E|CLU_ENST00000560366.1_Silent_p.E251E			P10909	CLUS_HUMAN	clusterin	199					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		TATCCTGGGGCTCCCGGGTGA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	81	83			NA	NA	8		NA											NA				27462673		2203	4300	6503	SO:0001819	synonymous_variant			M64722	CCDS47832.1	8p21-p12	2012-11-30	2006-02-10		ENSG00000120885	ENSG00000120885	1191	1191			2095	protein-coding gene	gene with protein product	complement lysis inhibitor, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J	185430	clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J)	CLI, APOJ	NA	1585460	Standard	NM_001831	NR_038335	NA	Approved	SGP-2, SP-40, TRPM-2, KUB1, CLU1, CLU2	uc003xfz.2	P10909	OTTHUMG00000102114	ENST00000316403.10:c.597G>A	8.37:g.27462673C>T		NA	B2R9Q1|B3KSE6|P11380|P11381|Q2TU75|Q5HYC1|Q7Z5B9	37	CCDS47832.1	.	.	.	.	.	.	.	.	.	.	C	3.436	-0.114995	0.06881	.	.	ENSG00000120885	ENST00000522098	.	.	.	4.96	3.02	0.34903	.	.	.	.	.	T	0.34077	0.0885	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.19516	-1.0303	4	.	.	.	-11.4326	7.7861	0.29093	0.0:0.7189:0.1797:0.1015	.	.	.	.	T	62	.	.	A	-	1	0	CLU	27518590	0.000000	0.05858	0.009000	0.14445	0.007000	0.05969	0.089000	0.15002	1.079000	0.41038	0.563000	0.77884	GCC	CLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219953.3		-	ENST00000316403.10	Silent	SNP	8 : 27462673 - 27462673 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	29
DDX50	79009	broad.mit.edu	37	10	70673194	70673194	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70673194C>T	ENST00000373585.3	+	6	912	c.805C>T	c.(805-807)Cgt>Tgt	p.R269C		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	269	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						AACACCTGGTCGTATCAAAGA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	135	138			NA	NA	10		NA											NA				70673194		2203	4300	6503	SO:0001583	missense			AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625	79009	79009		DEAD-boxes	17906	protein-coding gene	gene with protein product		610373			NA	11891046	Standard	NM_024045	NM_024045	NA	Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.805C>T	10.37:g.70673194C>T	ENSP00000362687:p.Arg269Cys	NA	Q5VX37|Q8WV76|Q9BWI8	37	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076777	0.76415	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.20200	2.09	5.09	5.09	0.68999	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.203799	0.53938	D	0.000052	T	0.60728	0.2291	H	0.97077	3.935	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.982	T	0.74368	-0.3688	10	0.87932	D	0	-7.362	14.4631	0.67465	0.0:0.853:0.147:0.0	.	269;269	Q9BQ39;B4DED6	DDX50_HUMAN;.	C	269	ENSP00000362687:R269C	ENSP00000362687:R269C	R	+	1	0	DDX50	70343200	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.446000	0.60014	2.530000	0.85305	0.462000	0.41574	CGT	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048363.1		+	ENST00000373585.3	Missense_Mutation	SNP	10 : 70673194 - 70673194 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	516	95
TRIM38	10475	broad.mit.edu	37	6	25972122	25972122	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25972122A>C	ENST00000357085.3	+	5	1009	c.533A>C	c.(532-534)aAa>aCa	p.K178T	TRIM38_ENST00000349458.3_Missense_Mutation_p.K178T	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	178					positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						CAGAGACAAAAAATCCGGTCT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	55	55			NA	NA	6		NA											NA				25972122		2203	4300	6503	SO:0001583	missense			U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343	10475	10475		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	10059	protein-coding gene	gene with protein product			ring finger protein 15, tripartite motif-containing 38	RNF15	NA		Standard		XR_241880	NA	Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.533A>C	6.37:g.25972122A>C	ENSP00000349596:p.Lys178Thr	NA		37	CCDS4568.1	.	.	.	.	.	.	.	.	.	.	a	3.568	-0.088221	0.07097	.	.	ENSG00000112343	ENST00000540262;ENST00000349458;ENST00000357085	T;T;T	0.04502	3.61;3.61;3.61	4.55	0.716	0.18191	.	0.495426	0.17267	N	0.180553	T	0.01092	0.0036	L	0.29908	0.895	0.09310	N	1	B	0.25235	0.121	B	0.20577	0.03	T	0.46498	-0.9187	10	0.45353	T	0.12	.	5.0157	0.14335	0.5343:0.3685:0.0971:0.0	.	178	O00635	TRI38_HUMAN	T	178	ENSP00000443976:K178T;ENSP00000230099:K178T;ENSP00000349596:K178T	ENSP00000230099:K178T	K	+	2	0	TRIM38	26080101	0.010000	0.17322	0.005000	0.12908	0.002000	0.02628	0.306000	0.19279	0.123000	0.18342	-0.313000	0.08912	AAA	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040076.2		+	ENST00000357085.3	Missense_Mutation	SNP	6 : 25972122 - 25972122 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	58
TMEM2	23670	broad.mit.edu	37	9	74337391	74337391	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:74337391G>T	ENST00000377044.4	-	12	2758	c.2219C>A	c.(2218-2220)tCt>tAt	p.S740Y	TMEM2_ENST00000377066.5_Missense_Mutation_p.S677Y	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	740						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AGCAGCACTAGAGTTGGTTGT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	132	138			NA	NA	9		NA											NA				74337391		2203	4300	6503	SO:0001583	missense				CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048	23670	23670			11869	protein-coding gene	gene with protein product		605835			NA		Standard	NM_013390	NM_013390	NA	Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.2219C>A	9.37:g.74337391G>T	ENSP00000366243:p.Ser740Tyr	NA	A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	37	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691561	0.68271	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	T;T	0.55413	0.52;0.52	5.38	5.38	0.77491	Pectin lyase fold/virulence factor (1);	0.095821	0.64402	D	0.000001	T	0.43500	0.1250	N	0.14661	0.345	0.80722	D	1	B;B	0.26744	0.158;0.131	B;B	0.31946	0.089;0.138	T	0.44097	-0.9350	10	0.72032	D	0.01	.	19.4993	0.95086	0.0:0.0:1.0:0.0	.	740;677	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	Y	740;677	ENSP00000366243:S740Y;ENSP00000366266:S677Y	ENSP00000366243:S740Y	S	-	2	0	TMEM2	73527211	1.000000	0.71417	0.968000	0.41197	0.987000	0.75469	9.248000	0.95456	2.687000	0.91594	0.557000	0.71058	TCT	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052618.2		-	ENST00000377044.4	Missense_Mutation	SNP	9 : 74337391 - 74337391 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	389	72
COPB1	1315	broad.mit.edu	37	11	14510081	14510081	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14510081A>G	ENST00000249923.3	-	6	956	c.656T>C	c.(655-657)tTt>tCt	p.F219S	COPB1_ENST00000439561.2_Missense_Mutation_p.F219S	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	219					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						AATGTCTCCAAATGTTTGAAC	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	66	67			NA	NA	11		NA											NA				14510081		2200	4285	6485	SO:0001583	missense			BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083	1315	1315			2231	protein-coding gene	gene with protein product		600959	coatomer protein complex, subunit beta	COPB	NA	7982906	Standard	NM_016451	NM_016451	NA	Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.656T>C	11.37:g.14510081A>G	ENSP00000249923:p.Phe219Ser	NA	D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	37	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.532635	0.85812	.	.	ENSG00000129083	ENST00000249923;ENST00000439561;ENST00000534234	T;T;T	0.24350	1.86;1.86;1.86	4.9	4.9	0.64082	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.55097	0.1899	M	0.87900	2.915	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.60198	-0.7310	10	0.38643	T	0.18	.	14.817	0.70041	1.0:0.0:0.0:0.0	.	219	P53618	COPB_HUMAN	S	219	ENSP00000249923:F219S;ENSP00000397873:F219S;ENSP00000436383:F219S	ENSP00000249923:F219S	F	-	2	0	COPB1	14466657	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	1.956000	0.56807	0.533000	0.62120	TTT	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386410.1		-	ENST00000249923.3	Missense_Mutation	SNP	11 : 14510081 - 14510081 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	196	29
BDH2	56898	broad.mit.edu	37	4	104003289	104003289	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:104003289G>A	ENST00000296424.4	-	9	753	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	211					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	p.F211F(1)		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)		CTGCAGTTGCGAATCTTCCCG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)						G		1,4405	2.1+/-5.4	0,1,2202	142	124	130		633	1.1	1	4		130	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BDH2	NM_020139.3		0,2,6501	AA,AG,GG	NA	0.0116,0.0227,0.0154		211/246	104003289	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			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.633C>T	4.37:g.104003289G>A		NA	A8K295|B4DUF6|Q503A0|Q6IA46|Q6UWD3|Q9H8S8|Q9NRX8	37	CCDS3663.1																																																																																			BDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157159.2		-	ENST00000296424.4	Silent	SNP	4 : 104003289 - 104003289 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	258	48
TMED7-TICAM2	100302736	broad.mit.edu	37	5	114916863	114916863	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114916863C>T	ENST00000282382.4	-	4	966	c.598G>A	c.(598-600)Gag>Aag	p.E200K	TMED7-TICAM2_ENST00000333314.3_3'UTR|TICAM2_ENST00000427199.2_Missense_Mutation_p.E31K|TICAM2_ENST00000408996.4_Missense_Mutation_p.E200K			Q86XR7	TCAM2_HUMAN	TMED7-TICAM2 readthrough	31	TIR.				I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Golgi apparatus|intrinsic to membrane|plasma membrane	protein binding|transmembrane receptor activity				NA						GAATCTGACTCATGATATCCT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	128	128			NA	NA	5		NA											NA				114916863		2202	4300	6502	SO:0001583	missense				CCDS54887.1, CCDS54888.1	5q22.3	2010-05-12	2009-11-05		ENSG00000251201	ENSG00000251201	100302736	100302736			33945	other	readthrough					NA		Standard	NM_001164468	NM_001164468	NA	Approved		uc003kre.3		OTTHUMG00000162911	ENST00000282382.4:c.598G>A	5.37:g.114916863C>T	ENSP00000282382:p.Glu200Lys	NA	B3Y698	37	CCDS54887.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488308	0.44249	.	.	ENSG00000243414;ENSG00000243414;ENSG00000251201	ENST00000408996;ENST00000427199;ENST00000282382	T;T	0.25414	1.8;1.8	5.48	2.64	0.31445	.	0.795702	0.10953	N	0.615814	T	0.16854	0.0405	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.31943	-0.9925	10	0.13108	T	0.6	.	8.9787	0.35953	0.0:0.7346:0.0:0.2654	.	200;31	Q6JUT2;Q86XR7	.;TCAM2_HUMAN	K	200;31;200	ENSP00000386341:E200K;ENSP00000282382:E200K	ENSP00000415139:E31K	E	-	1	0	TICAM2;TMED7-TICAM2	114944762	0.000000	0.05858	0.042000	0.18584	0.046000	0.14306	0.344000	0.19962	0.767000	0.33267	0.585000	0.79938	GAG	TMED7-TICAM2-001	PUTATIVE	basic|appris_candidate_longest|readthrough_transcript|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363128.1		-	ENST00000282382.4	Missense_Mutation	SNP	5 : 114916863 - 114916863 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	835	160
TRANK1	9881	broad.mit.edu	37	3	36897105	36897105	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36897105C>T	ENST00000428977.2	-	2	2601	c.2326G>A	c.(2326-2328)Gaa>Aaa	p.E776K	TRANK1_ENST00000429976.2_Missense_Mutation_p.E1326K|TRANK1_ENST00000301807.6_Missense_Mutation_p.E776K			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1326					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TATACTTCTTCAGTGAGTCTC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	87	87			NA	NA	3		NA											NA				36897105		1825	4076	5901	SO:0001583	missense			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016	9881	9881		Ankyrin repeat domain containing, Tetratricopeptide (TTC) repeat domain containing	29011	protein-coding gene	gene with protein product	lupus brain antigen 1, KIAA0342				NA	9205841	Standard	NM_014831	NM_014831	NA	Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000428977.2:c.2326G>A	3.37:g.36897105C>T	ENSP00000416826:p.Glu776Lys	NA	Q8N8K0	37		.	.	.	.	.	.	.	.	.	.	C	18.34	3.602149	0.66445	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.29917	1.55;1.96;1.55	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000014	T	0.39627	0.1085	N	0.25789	0.76	0.42064	D	0.991171	P	0.51791	0.948	P	0.56163	0.793	T	0.10132	-1.0643	10	0.44086	T	0.13	.	19.6889	0.95989	0.0:1.0:0.0:0.0	.	1326	O15050	TRNK1_HUMAN	K	776;1326;776	ENSP00000416826:E776K;ENSP00000416168:E1326K;ENSP00000301807:E776K	ENSP00000301807:E776K	E	-	1	0	TRANK1	36872109	0.994000	0.37717	0.994000	0.49952	0.987000	0.75469	3.224000	0.51238	2.735000	0.93741	0.561000	0.74099	GAA	TRANK1-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000369655.1		-	ENST00000428977.2	Missense_Mutation	SNP	3 : 36897105 - 36897105 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	588	19
USH2A	7399	broad.mit.edu	37	1	216595582	216595582	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216595582A>G	ENST00000307340.3	-	2	483	c.97T>C	c.(97-99)Tca>Cca	p.S33P	USH2A_ENST00000366943.2_Missense_Mutation_p.S33P|USH2A_ENST00000366942.3_Missense_Mutation_p.S33P	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	33					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGACCTCGTGACTCAGTCAAG	0.453		NA								HNSCC(13;0.011)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	80	79			NA	NA	1		NA											NA				216595582		2203	4300	6503	SO:0001583	missense			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781	7399	7399		Fibronectin type III domain containing	12601	protein-coding gene	gene with protein product	usherin	608400		USH2	NA	9624053, 10729113	Standard	NM_007123	NM_007123	NA	Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.97T>C	1.37:g.216595582A>G	ENSP00000305941:p.Ser33Pro	NA	Q5VVM9|Q6S362|Q9NS27	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	7.827	0.718988	0.15372	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.20598	2.5;2.49;2.06	5.27	2.96	0.34315	.	0.207614	0.23881	N	0.043646	T	0.16471	0.0396	L	0.49640	1.575	0.33847	D	0.632119	B;B	0.15930	0.015;0.007	B;B	0.16289	0.015;0.007	T	0.14144	-1.0483	10	0.28530	T	0.3	.	5.2408	0.15471	0.7218:0.0:0.1465:0.1317	.	33;33	O75445-2;O75445	.;USH2A_HUMAN	P	33	ENSP00000305941:S33P;ENSP00000355910:S33P;ENSP00000355909:S33P	ENSP00000305941:S33P	S	-	1	0	USH2A	214662205	1.000000	0.71417	0.012000	0.15200	0.291000	0.27294	1.496000	0.35638	0.335000	0.23614	0.482000	0.46254	TCA	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128138.1		-	ENST00000307340.3	Missense_Mutation	SNP	1 : 216595582 - 216595582 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	318	64
ZNF473	25888	broad.mit.edu	37	19	50549780	50549780	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50549780C>T	ENST00000595661.1	+	6	2575	c.2080C>T	c.(2080-2082)Cga>Tga	p.R694*	ZNF473_ENST00000270617.3_Nonsense_Mutation_p.R694*|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000391821.2_Nonsense_Mutation_p.R694*|ZNF473_ENST00000445728.3_Nonsense_Mutation_p.R682*|CTD-2126E3.3_ENST00000599410.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	694					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	p.R694*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TCAGCATGAGCGAACTCATGC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Nonsense(1)	ovary(1)											78	81	80			NA	NA	19		NA											NA				50549780		2203	4300	6503	SO:0001587	stop_gained			AB032967	CCDS33077.1	19q13.33	2013-01-08					25888	25888		Zinc fingers, C2H2-type, -	23239	protein-coding gene	gene with protein product					NA	11782445	Standard	XM_046390	NM_015428	NA	Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.2080C>T	19.37:g.50549780C>T	ENSP00000472808:p.Arg694*	NA	A8K8T7|Q9ULS9|Q9Y4Q7	37	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	C	36	5.831686	0.97003	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	.	.	.	4.21	0.966	0.19667	.	0.679345	0.12907	N	0.429279	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.416	4.1994	0.10458	0.6041:0.1829:0.213:0.0	.	.	.	.	X	694;694;682	.	ENSP00000270617:R694X	R	+	1	2	ZNF473	55241592	0.000000	0.05858	0.140000	0.22221	0.027000	0.11550	-0.447000	0.06828	0.111000	0.17947	-0.347000	0.07816	CGA	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464833.1		+	ENST00000595661.1	Nonsense_Mutation	SNP	19 : 50549780 - 50549780 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	454	70
FASN	2194	broad.mit.edu	37	17	80039903	80039903	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80039903G>A	ENST00000306749.2	-	36	6363	c.6145C>T	c.(6145-6147)Cgg>Tgg	p.R2049W	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2049	Beta-ketoacyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CCTTCGTGCCGGCGTTTCTCA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(59;314 1043 11189 28578 32273)							NA				0													63	64	63			NA	NA	17		NA											NA				80039903		2203	4300	6503	SO:0001583	missense			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2194	2194	2.3.1.85	Short chain dehydrogenase/reductase superfamily / Atypical members	3594	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 27X, member 1	600212			NA	7835891, 7567999, 19027726	Standard	NM_004104	NM_004104	NA	Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.6145C>T	17.37:g.80039903G>A	ENSP00000304592:p.Arg2049Trp	NA	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	37	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759417	0.49468	.	.	ENSG00000169710	ENST00000306749	T	0.48522	0.81	4.77	-0.811	0.10857	Polyketide synthase/Fatty acid synthase, KR (1);NAD(P)-binding domain (1);	0.332110	0.26642	N	0.023248	T	0.69913	0.3164	M	0.91354	3.2	0.09310	N	1	D	0.76494	0.999	D	0.63192	0.912	T	0.69548	-0.5116	10	0.59425	D	0.04	-29.0112	15.7178	0.77681	0.0:0.0:0.4513:0.5487	.	2049	P49327	FAS_HUMAN	W	2049	ENSP00000304592:R2049W	ENSP00000304592:R2049W	R	-	1	2	FASN	77633192	0.011000	0.17503	0.515000	0.27774	0.624000	0.37722	1.416000	0.34759	0.039000	0.15632	0.313000	0.20887	CGG	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442369.1		-	ENST00000306749.2	Missense_Mutation	SNP	17 : 80039903 - 80039903 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	302	62
PTPRF	5792	broad.mit.edu	37	1	44085236	44085236	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44085236G>A	ENST00000359947.4	+	28	5264	c.4924G>A	c.(4924-4926)Gag>Aag	p.E1642K	PTPRF_ENST00000372414.3_Missense_Mutation_p.E1642K|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.E1001K|PTPRF_ENST00000372413.3_Missense_Mutation_p.E1633K|PTPRF_ENST00000438120.1_Missense_Mutation_p.E1633K	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1642	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CATGGAGCTCGAGTTCAAGGT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	44	43			NA	NA	1		NA											NA				44085236		2203	4299	6502	SO:0001583	missense			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949	5792	5792		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	9670	protein-coding gene	gene with protein product		179590		LAR	NA	7558042	Standard		NM_130440	NA	Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.4924G>A	1.37:g.44085236G>A	ENSP00000353030:p.Glu1642Lys	NA	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	37	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.252917|4.252917	0.80135|0.80135	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407|ENST00000412568;ENST00000414879	T;T;T;T;T;T|.	0.17213|.	2.29;2.29;2.29;2.29;2.29;2.29|.	4.87|4.87	4.87|4.87	0.63330|0.63330	Protein-tyrosine phosphatase, receptor/non-receptor type (2);|.	0.000000|.	0.34750|.	N|.	0.003720|.	D|D	0.88043|0.88043	0.6331|0.6331	H|H	0.96048|0.96048	3.76|3.76	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.83275|.	0.986;0.995;0.995;0.993;0.996|.	D|D	0.91784|0.91784	0.5438|0.5438	10|5	0.87932|.	D|.	0|.	.|.	18.895|18.895	0.92420|0.92420	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1287;1001;1219;1633;1642|.	Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586|.	.;.;.;.;PTPRF_HUMAN|.	K|Q	1642;1633;1642;1633;1001;714|1025;1066	ENSP00000353030:E1642K;ENSP00000398822:E1633K;ENSP00000361491:E1642K;ENSP00000361490:E1633K;ENSP00000387885:E1001K;ENSP00000361484:E714K|.	ENSP00000353030:E1642K|.	E|R	+|+	1|2	0|0	PTPRF|PTPRF	43857823|43857823	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.588000|0.588000	0.36517|0.36517	9.807000|9.807000	0.99171|0.99171	2.629000|2.629000	0.89072|0.89072	0.555000|0.555000	0.69702|0.69702	GAG|CGA	PTPRF-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019710.1		+	ENST00000359947.4	Missense_Mutation	SNP	1 : 44085236 - 44085236 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	283	42
IFT140	9742	broad.mit.edu	37	16	1636214	1636214	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1636214G>T	ENST00000426508.2	-	10	1435	c.1072C>A	c.(1072-1074)Ctg>Atg	p.L358M	IFT140_ENST00000439987.2_5'UTR|LA16c-395F10.2_ENST00000563162.1_RNA	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	358										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GGGCTGCCCAGGAAGTCTGGT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	99	103			NA	NA	16		NA											NA				1636214		2199	4300	6499	SO:0001583	missense			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535	9742	9742		Intraflagellar transport homologs, WD repeat domain containing	29077	protein-coding gene	gene with protein product		614620	WD and tetratricopeptide repeats 2, intraflagellar transport 140 homolog (Chlamydomonas)	WDTC2	NA	9628581	Standard	NM_014714	NM_014714	NA	Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1072C>A	16.37:g.1636214G>T	ENSP00000406012:p.Leu358Met	NA	A2A2A8|D3DU75|O60332	37	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	G	3.448	-0.112710	0.06881	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.58506	0.33	5.13	3.06	0.35304	WD40/YVTN repeat-like-containing domain (1);	1.556770	0.03386	N	0.201114	T	0.42426	0.1202	N	0.14661	0.345	0.09310	N	1	P	0.38642	0.641	B	0.29353	0.101	T	0.45556	-0.9253	10	0.33141	T	0.24	.	14.1787	0.65559	0.0:0.2861:0.7139:0.0	.	358	Q96RY7	IF140_HUMAN	M	358	ENSP00000406012:L358M	ENSP00000380562:L358M	L	-	1	2	IFT140	1576215	0.197000	0.23362	0.001000	0.08648	0.003000	0.03518	2.310000	0.43708	0.496000	0.27904	0.591000	0.81541	CTG	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250438.2		-	ENST00000426508.2	Missense_Mutation	SNP	16 : 1636214 - 1636214 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	592	101
KCNA7	3743	broad.mit.edu	37	19	49575299	49575299	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49575299C>T	ENST00000221444.1	-	1	899	c.544G>A	c.(544-546)Gca>Aca	p.A182T		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	182						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		GGGCCGGCTGCGGCTGCAGCA	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(74;686 1235 3793 23366 48562)							NA				0													7	8	8			NA	NA	19		NA											NA				49575299		1827	3688	5515	SO:0001583	missense			AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848	3743	3743		Potassium channels, Voltage-gated ion channels / Potassium channels	6226	protein-coding gene	gene with protein product		176268			NA	16382104	Standard	NM_031886	NM_031886	NA	Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.544G>A	19.37:g.49575299C>T	ENSP00000221444:p.Ala182Thr	NA	A1KYX7|Q9BYS4	37	CCDS12755.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.833847	0.32421	.	.	ENSG00000104848	ENST00000221444	D	0.97665	-4.48	4.28	4.28	0.50868	.	1.488200	0.03933	N	0.285642	D	0.94368	0.8189	L	0.29908	0.895	0.29307	N	0.868284	B	0.09022	0.002	B	0.04013	0.001	T	0.80837	-0.1204	10	0.11182	T	0.66	.	14.6178	0.68560	0.0:1.0:0.0:0.0	.	182	Q96RP8	KCNA7_HUMAN	T	182	ENSP00000221444:A182T	ENSP00000221444:A182T	A	-	1	0	KCNA7	54267111	0.022000	0.18835	0.086000	0.20670	0.007000	0.05969	3.360000	0.52299	2.134000	0.65973	0.485000	0.47835	GCA	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466263.1		-	ENST00000221444.1	Missense_Mutation	SNP	19 : 49575299 - 49575299 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	112	27
MLXIP	22877	broad.mit.edu	37	12	122620057	122620057	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122620057C>A	ENST00000319080.7	+	11	2008	c.1876C>A	c.(1876-1878)Cac>Aac	p.H626N	MLXIP_ENST00000535996.1_3'UTR|MLXIP_ENST00000538698.1_Missense_Mutation_p.H233N			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CCCGGAGTTCCACAGCAGCAT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(105;787 1493 16200 18566 52466)							NA				0													19	24	22			NA	NA	12		NA											NA				122620057		2026	4188	6214	SO:0001583	missense			AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727	22877	22877		Basic helix-loop-helix proteins	17055	protein-coding gene	gene with protein product		608090			NA	10048485, 11073985	Standard	NM_014938	XM_006719290	NA	Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.1876C>A	12.37:g.122620057C>A	ENSP00000312834:p.His626Asn	NA	A7MBN0|O94945|Q7LC47|Q8IXP1|Q8TAH9|Q8WVQ0|Q8WYA5	37		.	.	.	.	.	.	.	.	.	.	C	17.21	3.331774	0.60853	.	.	ENSG00000175727	ENST00000319080;ENST00000538698;ENST00000539039;ENST00000366272	T;T;T	0.46451	2.51;1.85;0.87	5.16	5.16	0.70880	.	0.822880	0.11534	N	0.554380	T	0.30603	0.0770	.	.	.	0.80722	D	1	B	0.31730	0.337	B	0.23419	0.046	T	0.14559	-1.0468	9	0.12766	T	0.61	-13.6986	18.6435	0.91402	0.0:1.0:0.0:0.0	.	626	Q9HAP2	MLXIP_HUMAN	N	626;233;233;97	ENSP00000312834:H626N;ENSP00000440769:H233N;ENSP00000445891:H97N	ENSP00000312834:H626N	H	+	1	0	MLXIP	121186010	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.649000	0.61433	2.395000	0.81488	0.455000	0.32223	CAC	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000401718.2		+	ENST00000319080.7	Missense_Mutation	SNP	12 : 122620057 - 122620057 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	102	18
B4GALNT4	338707	broad.mit.edu	37	11	373509	373509	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:373509C>T	ENST00000329962.6	+	7	697	c.697C>T	c.(697-699)Ccc>Tcc	p.P233S		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	233						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTGTCCAAGCCCAGGCGGTG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	90	89			NA	NA	11		NA											NA				373509		2196	4298	6494	SO:0001583	missense			AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	338707	338707	2.4.1.-	Beta 4-glycosyltransferases	26315	protein-coding gene	gene with protein product					NA	15044014	Standard	NM_178537	NM_178537	NA	Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.697C>T	11.37:g.373509C>T	ENSP00000328277:p.Pro233Ser	NA	Q96LV2	37	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	c	16.59	3.166235	0.57476	.	.	ENSG00000182272	ENST00000329962	T	0.21361	2.01	4.23	4.23	0.50019	PA14 (2);	0.320979	0.28901	N	0.013763	T	0.30166	0.0756	L	0.48877	1.53	0.44352	D	0.997242	D	0.52996	0.957	P	0.50490	0.642	T	0.07309	-1.0779	10	0.56958	D	0.05	-25.8667	17.1578	0.86796	0.0:1.0:0.0:0.0	.	233	Q76KP1	B4GN4_HUMAN	S	233	ENSP00000328277:P233S	ENSP00000328277:P233S	P	+	1	0	B4GALNT4	363509	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.864000	0.39469	2.337000	0.79520	0.462000	0.41574	CCC	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239289.2		+	ENST00000329962.6	Missense_Mutation	SNP	11 : 373509 - 373509 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	653	81
CWH43	80157	broad.mit.edu	37	4	48994109	48994109	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48994109T>C	ENST00000513409.1	+	4	615		c.e4+2		CWH43_ENST00000226432.4_Splice_Site			Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	NA					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TTGGCACAGGTAATACTGTAA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	118	123			NA	NA	4		NA											NA				48994109		2203	4300	6503	SO:0001630	splice_region_variant				CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182	80157	80157			26133	protein-coding gene	gene with protein product					NA	17714445, 17761529	Standard	NM_025087	NM_025087	NA	Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000513409.1:c.430+2T>C	4.37:g.48994109T>C		NA	B2RPD7	37		.	.	.	.	.	.	.	.	.	.	T	12.84	2.059589	0.36373	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	.	.	.	5.24	4.07	0.47477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.499	0.39006	0.0:0.0792:0.0:0.9208	.	.	.	.	.	-1	.	.	.	+	.	.	CWH43	48688866	1.000000	0.71417	0.991000	0.47740	0.476000	0.33039	3.095000	0.50235	1.024000	0.39682	0.402000	0.26972	.	CWH43-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000361404.2	Intron	+	ENST00000513409.1	Splice_Site	SNP	4 : 48994109 - 48994109 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	333	56
TOP2B	7155	broad.mit.edu	37	3	25672321	25672321	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:25672321A>G	ENST00000435706.2	-	11	1562	c.1361T>C	c.(1360-1362)aTt>aCt	p.I454T	TOP2B_ENST00000264331.4_Missense_Mutation_p.I459T			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	459					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						CAGTTTGGGAATACCTTTGAT	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	115	119			NA	NA	3		NA											NA				25672321		1842	4084	5926	SO:0001583	missense			X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	7155	7155	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	topoisomerase (DNA) II beta (180kD)		NA	1309226, 1333583	Standard		NM_001068	NA	Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000435706.2:c.1361T>C	3.37:g.25672321A>G	ENSP00000396704:p.Ile454Thr	NA	Q13600|Q9UMG8|Q9UQP8	37	CCDS46776.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.259482	0.80246	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.48201	0.82;0.82	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.77545	0.4146	H	0.95402	3.665	0.80722	D	1	D	0.67145	0.996	D	0.74674	0.984	D	0.85031	0.0917	10	0.87932	D	0	-9.7441	15.2768	0.73748	1.0:0.0:0.0:0.0	.	454	Q02880-2	.	T	454;459;454	ENSP00000396704:I454T;ENSP00000264331:I459T	ENSP00000264331:I459T	I	-	2	0	TOP2B	25647325	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.339000	0.96797	2.022000	0.59522	0.454000	0.30748	ATT	TOP2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340821.1		-	ENST00000435706.2	Missense_Mutation	SNP	3 : 25672321 - 25672321 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	149	31
SCN5A	6331	broad.mit.edu	37	3	38595864	38595864	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38595864G>A	ENST00000455624.2	-	26	4739		c.e26+1		SCN5A_ENST00000450102.2_Silent_p.G1519G|SCN5A_ENST00000443581.1_Silent_p.G1572G|SCN5A_ENST00000413689.1_Silent_p.G1573G|SCN5A_ENST00000425664.1_Silent_p.G1555G|SCN5A_ENST00000449557.2_Silent_p.G1519G|SCN5A_ENST00000451551.2_Silent_p.G1519G|SCN5A_ENST00000423572.2_Silent_p.G1572G|SCN5A_ENST00000464652.1_5'UTR|SCN5A_ENST00000414099.2_Silent_p.G1555G|SCN5A_ENST00000333535.4_Silent_p.G1573G			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	NA					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CAATACACTCGCCTGTGAAGA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	158	154			NA	NA	3		NA											NA				38595864		2118	4257	6375	SO:0001630	splice_region_variant			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873	6331	6331		Sodium channels, Voltage-gated ion channels / Sodium channels	10593	protein-coding gene	gene with protein product	long QT syndrome 3	600163	sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	CMD1E	NA	7842012, 15466643, 16382098	Standard	NM_198056	NM_198056	NA	Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000455624.2:c.4714+1C>T	3.37:g.38595864G>A		NA	A5H1P8|A6N922|A6N923|B2RTU0|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	37	CCDS54570.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.028857	0.35797	.	.	ENSG00000183873	ENST00000455624	.	.	.	3.69	2.79	0.32731	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.0242	0.09680	0.0946:0.1736:0.5766:0.1552	.	.	.	.	.	-1	.	.	.	-	.	.	SCN5A	38570868	0.398000	0.25279	1.000000	0.80357	0.910000	0.53928	0.158000	0.16422	0.736000	0.32559	0.462000	0.41574	.	SCN5A-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343215.2	Intron	-	ENST00000455624.2	Splice_Site	SNP	3 : 38595864 - 38595864 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	440	88
NCOA5	57727	broad.mit.edu	37	20	44691163	44691163	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44691163G>T	ENST00000290231.6	-	8	1680	c.1516C>A	c.(1516-1518)Caa>Aaa	p.Q506K		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	506	Transcription activation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AAAAGCCCTTGGGAAGGAGCC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	51	51			NA	NA	20		NA											NA				44691163		2203	4300	6503	SO:0001583	missense				CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160	57727	57727			15909	protein-coding gene	gene with protein product	coactivator independent of AF-2				NA	11780052, 11113208	Standard	NM_020967	XM_005260474	NA	Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.1516C>A	20.37:g.44691163G>T	ENSP00000290231:p.Gln506Lys	NA	B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	37	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.765540	0.31228	.	.	ENSG00000124160	ENST00000290231	T	0.50548	0.74	5.54	4.59	0.56863	.	0.457422	0.24983	N	0.034056	T	0.42653	0.1212	L	0.34521	1.04	0.45914	D	0.998751	D	0.54964	0.969	P	0.49361	0.608	T	0.23048	-1.0199	10	0.07325	T	0.83	-0.4782	15.7475	0.77958	0.0:0.1365:0.8635:0.0	.	506	Q9HCD5	NCOA5_HUMAN	K	506	ENSP00000290231:Q506K	ENSP00000290231:Q506K	Q	-	1	0	NCOA5	44124570	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	6.646000	0.74348	1.567000	0.49668	-0.165000	0.13383	CAA	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079559.1		-	ENST00000290231.6	Missense_Mutation	SNP	20 : 44691163 - 44691163 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	339	11
APOBR	55911	broad.mit.edu	37	16	28509778	28509778	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28509778C>T	ENST00000564831.1	+	4	3279	c.3246C>T	c.(3244-3246)ggC>ggT	p.G1082G	APOBR_ENST00000328423.5_Intron|APOBR_ENST00000431282.1_Silent_p.G1073G	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	1073					cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CGCACCCTGGCATGATGCAGG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	28	26			NA	NA	16		NA											NA				28509778		2036	4152	6188	SO:0001819	synonymous_variant			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730	55911	55911			24087	protein-coding gene	gene with protein product	apolipoprotein B48 receptor, apolipoprotein B100 receptor	605220			NA	10852956	Standard	NM_182804	NM_018690	NA	Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000564831.1:c.3246C>T	16.37:g.28509778C>T		NA	Q0VD81|Q8NC15|Q9NPJ9	37	CCDS58442.1																																																																																			APOBR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000420020.1		+	ENST00000564831.1	Silent	SNP	16 : 28509778 - 28509778 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	76	17
SLC17A3	10786	broad.mit.edu	37	6	25851014	25851014	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25851014T>G	ENST00000397060.4	-	7	913	c.804A>C	c.(802-804)gaA>gaC	p.E268D	SLC17A3_ENST00000360657.3_Missense_Mutation_p.E190D|SLC17A3_ENST00000361703.6_Missense_Mutation_p.E190D	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	190					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						ATATGATGTATTCTTTTTCTG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	153	155			NA	NA	6		NA											NA				25851014		2203	4300	6503	SO:0001583	missense			U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564	10786	10786		Solute carriers	10931	protein-coding gene	gene with protein product		611034	solute carrier family 17 (sodium phosphate), member 3		NA	9149941	Standard		NM_006632	NA	Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000397060.4:c.804A>C	6.37:g.25851014T>G	ENSP00000380250:p.Glu268Asp	NA	B7WNJ5|Q8WWC7|Q9H533	37	CCDS47385.1	.	.	.	.	.	.	.	.	.	.	T	13.04	2.119339	0.37436	.	.	ENSG00000124564	ENST00000397060;ENST00000360657;ENST00000361703	T;T;T	0.59083	0.29;0.29;0.29	4.81	0.898	0.19264	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.48767	D	0.000164	T	0.33000	0.0848	L	0.48877	1.53	0.31091	N	0.710852	B;P;B;P	0.35700	0.41;0.516;0.193;0.516	B;B;B;B	0.43867	0.241;0.434;0.306;0.267	T	0.18524	-1.0334	10	0.31617	T	0.26	.	7.0945	0.25301	0.0:0.2741:0.0:0.7259	.	190;249;268;190	B7Z531;B7Z3L7;B7Z511;O00476	.;.;.;NPT4_HUMAN	D	268;190;190	ENSP00000380250:E268D;ENSP00000353873:E190D;ENSP00000355307:E190D	ENSP00000353873:E190D	E	-	3	2	SLC17A3	25958993	0.724000	0.28038	0.971000	0.41717	0.599000	0.36880	-0.729000	0.04920	-0.020000	0.14032	0.477000	0.44152	GAA	SLC17A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040071.5		-	ENST00000397060.4	Missense_Mutation	SNP	6 : 25851014 - 25851014 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	410	71
ADSSL1	122622	broad.mit.edu	37	14	105208312	105208312	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105208312C>T	ENST00000332972.5	+	9	1209	c.1050C>T	c.(1048-1050)atC>atT	p.I350I	ADSSL1_ENST00000330877.2_Silent_p.I307I	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1	307					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	GTGTGGGCATCGGGGCCTTCC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	119	127			NA	NA	14		NA											NA				105208312		2203	4300	6503	SO:0001819	synonymous_variant			AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100	122622	122622			20093	protein-coding gene	gene with protein product		612498			NA		Standard		NM_199165	NA	Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000332972.5:c.1050C>T	14.37:g.105208312C>T		NA	Q86TT6|Q8N714	37	CCDS9991.1																																																																																			ADSSL1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410531.1		+	ENST00000332972.5	Silent	SNP	14 : 105208312 - 105208312 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	944	175
YTHDC2	64848	broad.mit.edu	37	5	112849636	112849636	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112849636G>T	ENST00000515883.1	+	1	231	c.44G>T	c.(43-45)gGc>gTc	p.G15V	YTHDC2_ENST00000161863.4_Missense_Mutation_p.G15V			Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	15	Gly-rich.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CCGGCTCCTGGCGGTGGCGGA	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													7	8	8			NA	NA	5		NA											NA				112849636		2038	3998	6036	SO:0001583	missense			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188	64848	64848			24721	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_022828	NM_022828	NA	Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000515883.1:c.44G>T	5.37:g.112849636G>T	ENSP00000423101:p.Gly15Val	NA	B2RP66	37		.	.	.	.	.	.	.	.	.	.	G	4.005	-0.001738	0.07819	.	.	ENSG00000047188	ENST00000161863;ENST00000515883	T;T	0.08102	4.12;3.13	4.23	1.2	0.21068	.	0.371841	0.19490	N	0.113018	T	0.03827	0.0108	N	0.08118	0	0.09310	N	0.999992	B	0.02656	0.0	B	0.01281	0.0	T	0.37314	-0.9711	10	0.51188	T	0.08	.	5.7402	0.18089	0.1115:0.3936:0.4949:0.0	.	15	Q9H6S0	YTDC2_HUMAN	V	15	ENSP00000161863:G15V;ENSP00000423101:G15V	ENSP00000161863:G15V	G	+	2	0	YTHDC2	112877535	0.976000	0.34144	0.002000	0.10522	0.004000	0.04260	2.975000	0.49281	0.308000	0.22923	-0.502000	0.04539	GGC	YTHDC2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000370842.1		+	ENST00000515883.1	Missense_Mutation	SNP	5 : 112849636 - 112849636 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	149	42
HMCN1	83872	broad.mit.edu	37	1	186039890	186039890	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186039890G>A	ENST00000271588.4	+	52	8368		c.e52+1		HMCN1_ENST00000367492.2_Splice_Site	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	NA					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						GGATGGACAGGCCAGTCACAA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	105	107			NA	NA	1		NA											NA				186039890		2203	4300	6503	SO:0001630	splice_region_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.8139+1G>A	1.37:g.186039890G>A		NA	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	33	5.198072	0.94997	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8579	0.96771	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HMCN1	184306513	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	9.566000	0.98157	2.687000	0.91594	0.655000	0.94253	.	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131848.1	Intron	+	ENST00000271588.4	Splice_Site	SNP	1 : 186039890 - 186039890 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	550	23
SPATA13	221178	broad.mit.edu	37	13	24860906	24860906	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24860906C>T	ENST00000424834.2	+	9	2958	c.2485C>T	c.(2485-2487)Cga>Tga	p.R829*	SPATA13_ENST00000409126.1_Intron|SPATA13_ENST00000343003.6_Nonsense_Mutation_p.R148*|SPATA13_ENST00000399949.2_Nonsense_Mutation_p.R126*|SPATA13_ENST00000382108.3_Nonsense_Mutation_p.R829*|RP11-307N16.6_ENST00000382141.4_Nonsense_Mutation_p.R707*|SPATA13_ENST00000382095.4_Nonsense_Mutation_p.R204*			Q96N96	SPT13_HUMAN	spermatogenesis associated 13	204					cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GTTGCAGTTGCGAGTGAATCA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	48	49			NA	NA	13		NA											NA				24860906		2203	4300	6503	SO:0001587	stop_gained			AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957	221178	221178		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	23222	protein-coding gene	gene with protein product		613324			NA		Standard	NM_153023	NM_001286795	NA	Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000424834.2:c.2485C>T	13.37:g.24860906C>T	ENSP00000398560:p.Arg829*	NA	A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	37	CCDS53857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	8.536955|8.536955	0.98854|0.98854	.|.	.|.	ENSG00000182957|ENSG00000182957	ENST00000424834|ENST00000382108;ENST00000382095;ENST00000438694;ENST00000399949;ENST00000343003	.|.	.|.	.|.	4.81|4.81	2.95|2.95	0.34219|0.34219	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.38108|.	0.1028|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.42531|.	-0.9446|.	3|.	.|0.20046	.|T	.|0.44	.|.	8.7046|8.7046	0.34347|0.34347	0.153:0.7627:0.0:0.0843|0.153:0.7627:0.0:0.0843	.|.	.|.	.|.	.|.	V|X	866|829;204;150;126;148	.|.	.|ENSP00000343631:R148X	A|R	+|+	2|1	0|2	SPATA13|SPATA13	23758906|23758906	1.000000|1.000000	0.71417|0.71417	0.948000|0.948000	0.38648|0.38648	0.495000|0.495000	0.33615|0.33615	2.856000|2.856000	0.48341|0.48341	2.371000|2.371000	0.80710|0.80710	0.561000|0.561000	0.74099|0.74099	GCG|CGA	SPATA13-008	PUTATIVE	upstream_uORF|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335437.3		+	ENST00000424834.2	Nonsense_Mutation	SNP	13 : 24860906 - 24860906 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	208	36
TBX22	50945	broad.mit.edu	37	X	79286360	79286360	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79286360A>G	ENST00000373294.5	+	8	1341	c.1313A>G	c.(1312-1314)aAt>aGt	p.N438S	TBX22_ENST00000373296.3_Missense_Mutation_p.N438S|TBX22_ENST00000442340.1_Missense_Mutation_p.N318S|TBX22_ENST00000373291.1_Missense_Mutation_p.N318S	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	438					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CAAGCACCTAATTCTACCAAT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	125	128			NA	NA	X		NA											NA				79286360		2203	4300	6503	SO:0001583	missense			AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145	50945	50945		T-boxes	11600	protein-coding gene	gene with protein product		300307	cleft palate and/or ankyloglossia	CPX, CLPA	NA	11559848, 14729838	Standard	NM_016954	NM_001109878	NA	Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.1313A>G	X.37:g.79286360A>G	ENSP00000362390:p.Asn438Ser	NA	Q96LC0|Q9HBF1	37	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	A	0.025	-1.381000	0.01204	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	3.99	2.81	0.32909	.	7739.210000	0.00166	N	0.000000	T	0.61578	0.2358	L	0.31664	0.95	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.49844	-0.8896	10	0.02654	T	1	.	0.9104	0.01293	0.4871:0.2026:0.1112:0.199	.	438	Q9Y458	TBX22_HUMAN	S	438;318;438;318	ENSP00000362393:N438S;ENSP00000396394:N318S;ENSP00000362390:N438S;ENSP00000362388:N318S	ENSP00000362388:N318S	N	+	2	0	TBX22	79173016	0.983000	0.35010	0.107000	0.21349	0.001000	0.01503	1.172000	0.31908	0.431000	0.26258	-0.804000	0.03201	AAT	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057334.1		+	ENST00000373294.5	Missense_Mutation	SNP	X : 79286360 - 79286360 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	567	181
C2orf16	84226	broad.mit.edu	37	2	27803149	27803149	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27803149G>A	ENST00000408964.2	+	1	3761	c.3710G>A	c.(3709-3711)cGc>cAc	p.R1237H		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1237										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CGAGGACAACGCAGCAGGCCT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	4,3766		0,4,1881	116	115	115		3710	-2	0	2		115	0,8242		0,0,4121	yes	missense	C2orf16	NM_032266.3	29	0,4,6002	AA,AG,GG	NA	0.0,0.1061,0.0333	benign	1237/1985	27803149	4,12008	1885	4121	6006	SO:0001583	missense			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843	84226	84226			25275	protein-coding gene	gene with protein product	P-S-E-R-S-H-H-S repeats containing				NA		Standard	NM_032266	NM_032266	NA	Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.3710G>A	2.37:g.27803149G>A	ENSP00000386190:p.Arg1237His	NA	B9EIQ4|Q53S01|Q8ND64|Q9H088	37	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	0.096	-1.159046	0.01686	0.001061	0.0	ENSG00000221843	ENST00000408964	T	0.05786	3.39	5.05	-1.97	0.07503	.	.	.	.	.	T	0.03178	0.0093	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48305	-0.9047	9	0.15499	T	0.54	.	6.9067	0.24313	0.2042:0.2035:0.5923:0.0	.	1237	Q68DN1	CB016_HUMAN	H	1237	ENSP00000386190:R1237H	ENSP00000386190:R1237H	R	+	2	0	C2orf16	27656653	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.725000	0.04942	-0.296000	0.08947	0.467000	0.42956	CGC	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353292.1		+	ENST00000408964.2	Missense_Mutation	SNP	2 : 27803149 - 27803149 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	866	155
CYLC2	1539	broad.mit.edu	37	9	105767015	105767015	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:105767015A>C	ENST00000374798.3	+	4	289	c.219A>C	c.(217-219)caA>caC	p.Q73H	CYLC2_ENST00000487798.1_Missense_Mutation_p.Q73H	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	73	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				ATCGTAGACAACCATTATGGA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	81	82			NA	NA	9		NA											NA				105767015		2203	4300	6503	SO:0001583	missense			Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833	1539	1539			2583	protein-coding gene	gene with protein product		604035			NA	7737358	Standard	NM_001340	NM_001340	NA	Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.219A>C	9.37:g.105767015A>C	ENSP00000420256:p.Gln73His	NA	B2R8F4|Q5VVJ9	37	CCDS35085.1	.	.	.	.	.	.	.	.	.	.	A	12.21	1.868610	0.32977	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.14516	2.5;2.5	4.38	3.24	0.37175	.	1.048800	0.07642	N	0.930445	T	0.17323	0.0416	N	0.22421	0.69	0.23421	N	0.997713	D	0.62365	0.991	P	0.56088	0.791	T	0.23368	-1.0190	10	0.44086	T	0.13	-2.8804	6.5659	0.22511	0.8906:0.0:0.1094:0.0	.	73	Q14093	CYLC2_HUMAN	H	73	ENSP00000420256:Q73H;ENSP00000417674:Q73H	ENSP00000420256:Q73H	Q	+	3	2	CYLC2	104806836	0.079000	0.21365	0.679000	0.29978	0.248000	0.25809	0.671000	0.25172	0.838000	0.34948	0.482000	0.46254	CAA	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053463.3		+	ENST00000374798.3	Missense_Mutation	SNP	9 : 105767015 - 105767015 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	170	18
PSMD12	5718	broad.mit.edu	37	17	65337095	65337095	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65337095A>G	ENST00000356126.3	-	11	1342	c.1235T>C	c.(1234-1236)aTt>aCt	p.I412T	PSMD12_ENST00000357146.4_Missense_Mutation_p.I392T	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	412	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding			breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					GAAGTTGATAATTCCTGCTAA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	89	89			NA	NA	17		NA											NA				65337095		2203	4299	6502	SO:0001583	missense			AB003103	CCDS11669.1, CCDS11670.1	17q24.3	2008-05-22			ENSG00000197170	ENSG00000197170	5718	5718		Proteasome (prosome, macropain) subunits	9557	protein-coding gene	gene with protein product		604450			NA	9426256	Standard	NM_002816, NM_174871	NM_002816	NA	Approved	p55, Rpn5	uc002jfy.3	O00232	OTTHUMG00000140376	ENST00000356126.3:c.1235T>C	17.37:g.65337095A>G	ENSP00000348442:p.Ile412Thr	NA	Q53HA2|Q6P053	37	CCDS11669.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.965439	0.74131	.	.	ENSG00000197170	ENST00000356126;ENST00000357146	T;T	0.30981	1.51;1.51	4.81	4.81	0.61882	Winged helix-turn-helix transcription repressor DNA-binding (1);Proteasome component (PCI) domain (2);	0.099183	0.64402	D	0.000002	T	0.52435	0.1734	M	0.71036	2.16	0.80722	D	1	D;B	0.57257	0.979;0.43	D;P	0.64877	0.93;0.697	T	0.56074	-0.8039	10	0.56958	D	0.05	-7.9757	14.3834	0.66926	1.0:0.0:0.0:0.0	.	392;412	A6NP15;O00232	.;PSD12_HUMAN	T	412;392	ENSP00000348442:I412T;ENSP00000349667:I392T	ENSP00000348442:I412T	I	-	2	0	PSMD12	62767557	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.894000	0.92506	1.808000	0.52836	0.397000	0.26171	ATT	PSMD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277103.1		-	ENST00000356126.3	Missense_Mutation	SNP	17 : 65337095 - 65337095 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	441	76
NEK5	341676	broad.mit.edu	37	13	52657437	52657437	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52657437G>A	ENST00000355568.4	-	17	1670	c.1531C>T	c.(1531-1533)Cct>Tct	p.P511S		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	511							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TGATGGACAGGCAGGTTACTC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													227	187	200			NA	NA	13		NA											NA				52657437		2203	4300	6503	SO:0001583	missense			BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168	341676	341676			7748	protein-coding gene	gene with protein product			NIMA (never in mitosis gene a)-related kinase 5		NA	9552363	Standard	NM_199289	XM_006719807	NA	Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.1531C>T	13.37:g.52657437G>A	ENSP00000347767:p.Pro511Ser	NA	Q5TAP5	37	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	G	5.887	0.347691	0.11126	.	.	ENSG00000197168	ENST00000355568	T	0.69806	-0.43	5.42	2.24	0.28232	.	0.415847	0.19497	N	0.112832	T	0.53142	0.1778	L	0.51422	1.61	0.09310	N	1	B	0.20550	0.046	B	0.17098	0.017	T	0.33777	-0.9855	10	0.10902	T	0.67	.	8.3384	0.32228	0.2948:0.0:0.7052:0.0	.	511	Q6P3R8	NEK5_HUMAN	S	511	ENSP00000347767:P511S	ENSP00000347767:P511S	P	-	1	0	NEK5	51555438	0.160000	0.22878	0.027000	0.17364	0.124000	0.20399	0.615000	0.24329	0.644000	0.30656	0.455000	0.32223	CCT	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045045.3		-	ENST00000355568.4	Missense_Mutation	SNP	13 : 52657437 - 52657437 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	434	66
SALL2	6297	broad.mit.edu	37	14	21991201	21991201	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21991201G>A	ENST00000327430.3	-	2	2955	c.2661C>T	c.(2659-2661)agC>agT	p.S887S	SALL2_ENST00000450879.2_Silent_p.S750S|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	887							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CCAAGGTCACGCTGGTGGCTT	0.592		NA											G	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	EXOME	NA	NA	0.0125	SNP								NA				0													63	58	60			NA	NA	14		NA											NA				21991201		2203	4300	6503	SO:0001819	synonymous_variant			AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821	6297	6297		Zinc fingers, C2H2-type	10526	protein-coding gene	gene with protein product		602219	sal (Drosophila)-like 2, sal-like 2 (Drosophila)		NA	8975705	Standard	NM_005407	XM_005267983	NA	Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.2661C>T	14.37:g.21991201G>A		NA	B2RMX6|B9EGK8|Q9Y4G1	37	CCDS32045.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.028	-1.352014	0.01256	.	.	ENSG00000165821	ENST00000546363	.	.	.	4.79	2.79	0.32731	.	.	.	.	.	T	0.26304	0.0642	.	.	.	0.23254	N	0.998031	.	.	.	.	.	.	T	0.16778	-1.0391	4	.	.	.	-14.6793	5.2257	0.15393	0.1157:0.2131:0.6712:0.0	.	.	.	.	V	746	.	.	A	-	2	0	SALL2	21061041	0.007000	0.16637	0.593000	0.28771	0.007000	0.05969	-0.145000	0.10265	1.232000	0.43678	-0.257000	0.10917	GCG	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401242.1		-	ENST00000327430.3	Silent	SNP	14 : 21991201 - 21991201 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	309	71
ELL	8178	broad.mit.edu	37	19	18556055	18556055	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18556055C>A	ENST00000262809.4	-	11	1799	c.1728G>T	c.(1726-1728)caG>caT	p.Q576H	ELL_ENST00000596124.3_Missense_Mutation_p.Q443H	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	576					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		TTCGATATTCCTGCAAAATCT	0.512		NA	T	MLL	AL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		19	19p13.1	8178	ELL gene (11-19 lysine-rich leukemia gene)		L	0													199	209	206			NA	NA	19		NA											NA				18556055		2203	4300	6503	SO:0001583	missense			U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656	8178	8178		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	23114	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 68	600284	chromosome 19 open reading frame 17	C19orf17	NA	7991593, 8596958	Standard	NM_006532	NM_006532	NA	Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.1728G>T	19.37:g.18556055C>A	ENSP00000262809:p.Gln576His	NA		37	CCDS12380.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709318	0.48517	.	.	ENSG00000105656	ENST00000262809	T	0.22945	1.93	3.79	2.74	0.32292	Occludin/RNA polymerase II elongation factor, ELL domain (1);	0.154328	0.44285	U	0.000462	T	0.44244	0.1284	M	0.65498	2.005	0.45946	D	0.998776	D;D	0.76494	0.997;0.999	D;D	0.72982	0.968;0.979	T	0.37572	-0.9700	10	0.72032	D	0.01	-23.2441	9.261	0.37612	0.0:0.8105:0.0:0.1895	.	520;576	Q59HG4;P55199	.;ELL_HUMAN	H	576	ENSP00000262809:Q576H	ENSP00000262809:Q576H	Q	-	3	2	ELL	18417055	1.000000	0.71417	0.983000	0.44433	0.783000	0.44284	0.592000	0.23984	0.952000	0.37798	0.282000	0.19409	CAG	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466362.1		-	ENST00000262809.4	Missense_Mutation	SNP	19 : 18556055 - 18556055 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1883	316
PYGO2	90780	broad.mit.edu	37	1	154932251	154932251	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154932251G>A	ENST00000368457.2	-	3	396	c.225C>T	c.(223-225)tcC>tcT	p.S75S	PYGO2_ENST00000483463.1_5'UTR|PYGO2_ENST00000368456.1_Silent_p.S38S	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	75	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAAAAGGGTTGGATGCAACCA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(87;357 1460 1955 21029 23522)							NA				0													38	41	40			NA	NA	1		NA											NA				154932251		2203	4300	6503	SO:0001819	synonymous_variant			BC006132	CCDS1075.1	1q22	2013-10-09	2013-10-09		ENSG00000163348	ENSG00000163348	90780	90780		Zinc fingers, PHD-type	30257	protein-coding gene	gene with protein product		606903	pygopus homolog 2 (Drosophila)		NA	11988739	Standard	NM_138300	NM_138300	NA	Approved		uc001fft.3	Q9BRQ0	OTTHUMG00000037370	ENST00000368457.2:c.225C>T	1.37:g.154932251G>A		NA	Q8WYZ4|Q96CY2	37	CCDS1075.1																																																																																			PYGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090949.1		-	ENST00000368457.2	Silent	SNP	1 : 154932251 - 154932251 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	182	50
PLD5	200150	broad.mit.edu	37	1	242428680	242428680	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242428680A>G	ENST00000536534.2	-	4	807	c.566T>C	c.(565-567)gTa>gCa	p.V189A	PLD5_ENST00000442594.2_Missense_Mutation_p.V97A|PLD5_ENST00000427495.1_Missense_Mutation_p.V127A|PLD5_ENST00000474177.1_5'UTR			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)			ATCAGCTGTTACATCACTCAC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	61	62			NA	NA	1		NA											NA				242428680		2203	4300	6503	SO:0001583	missense			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.566T>C	1.37:g.242428680A>G	ENSP00000440896:p.Val189Ala	NA	A1KXV0|B7Z324|Q494U9|Q8NB22	37	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	A	12.51	1.960991	0.34565	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534;ENST00000459864	T;T;T;T	0.43294	2.64;2.64;2.64;0.95	5.55	4.41	0.53225	.	0.270757	0.30762	N	0.008930	T	0.21022	0.0506	N	0.13003	0.285	0.28108	N	0.931111	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.09377	0.004;0.001;0.003	T	0.16100	-1.0414	10	0.06494	T	0.89	-19.09	9.713	0.40256	0.9161:0.0:0.0839:0.0	.	97;189;127	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	A	127;97;189;127	ENSP00000401285:V127A;ENSP00000414188:V97A;ENSP00000440896:V189A;ENSP00000438191:V127A	ENSP00000401285:V127A	V	-	2	0	PLD5	240495303	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	3.031000	0.49728	2.234000	0.73211	0.533000	0.62120	GTA	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397213.2		-	ENST00000536534.2	Missense_Mutation	SNP	1 : 242428680 - 242428680 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	254	35
FDXR	2232	broad.mit.edu	37	17	72862343	72862343	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72862343C>T	ENST00000544854.1	-	4	448	c.261G>A	c.(259-261)cgG>cgA	p.R87R	FDXR_ENST00000582944.1_Silent_p.R131R|FDXR_ENST00000581530.1_Silent_p.R139R|FDXR_ENST00000420580.2_Silent_p.R99R|FDXR_ENST00000583917.1_Silent_p.R140R|FDXR_ENST00000442102.2_Silent_p.R182R|FDXR_ENST00000581969.1_5'UTR|FDXR_ENST00000293195.5_Silent_p.R139R|FDXR_ENST00000413947.2_Silent_p.R170R|FDXR_ENST00000455107.2_Silent_p.R95R	NM_001258016.1	NP_001244945.1	P22570	ADRO_HUMAN	ferredoxin reductase	139					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					TTTCCAGGGCCCGATGGTCCT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	48	46			NA	NA	17		NA											NA				72862343		2203	4300	6503	SO:0001819	synonymous_variant			J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	2232	2232	1.18.1.6		3642	protein-coding gene	gene with protein product	adrenodoxin-NADP(+) reductase, adrenodoxin reductase	103270		ADXR	NA	2969697	Standard	NM_004110	NM_001258014	NA	Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000544854.1:c.261G>A	17.37:g.72862343C>T		NA	Q13716|Q4PJI0|Q9BU12	37	CCDS58591.1																																																																																			FDXR-011	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444450.2		-	ENST00000544854.1	Silent	SNP	17 : 72862343 - 72862343 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	397	63
FSIP1	161835	broad.mit.edu	37	15	40018892	40018892	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40018892C>A	ENST00000350221.3	-	9	1157	c.948G>T	c.(946-948)caG>caT	p.Q316H		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	316										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		GCTGCTGATGCTGGGTGACTG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	83	85			NA	NA	15		NA											NA				40018892		2203	4300	6503	SO:0001583	missense			BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667	161835	161835			21674	protein-coding gene	gene with protein product		615795			NA	14702039	Standard	NM_152597	NM_152597	NA	Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.948G>T	15.37:g.40018892C>A	ENSP00000280236:p.Gln316His	NA	Q6X2C8|Q86Y89	37	CCDS10050.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.451852	0.43531	.	.	ENSG00000150667	ENST00000350221	T	0.24350	1.86	4.58	4.58	0.56647	.	0.540943	0.18233	N	0.147512	T	0.40886	0.1135	L	0.60455	1.87	0.30993	N	0.72124	P	0.52061	0.95	P	0.57620	0.824	T	0.30119	-0.9989	9	.	.	.	-3.3257	13.1909	0.59711	0.0:1.0:0.0:0.0	.	316	Q8NA03	FSIP1_HUMAN	H	316	ENSP00000280236:Q316H	.	Q	-	3	2	FSIP1	37806184	0.995000	0.38212	0.895000	0.35142	0.198000	0.23893	3.018000	0.49625	2.832000	0.97577	0.655000	0.94253	CAG	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252118.2		-	ENST00000350221.3	Missense_Mutation	SNP	15 : 40018892 - 40018892 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	257	55
RHOV	171177	broad.mit.edu	37	15	41165267	41165267	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41165267A>C	ENST00000220507.4	-	3	849	c.700T>G	c.(700-702)Tgc>Ggc	p.C234G		NM_133639.3	NP_598378.3	Q96L33	RHOV_HUMAN	ras homolog family member V	234					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome membrane|plasma membrane	GTP binding|metal ion binding			central_nervous_system(1)|large_intestine(1)	2		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		CAAACGAAGCAGAAGAACTTC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(13;103 483 3593 12123 44457)							NA				0													66	72	70			NA	NA	15		NA											NA				41165267		2203	4300	6503	SO:0001583	missense			AY059636	CCDS10068.1	15q13.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000104140	ENSG00000104140	171177	171177			18313	protein-coding gene	gene with protein product			ras homolog gene family, member V	ARHV	NA	11839775	Standard		NM_133639	NA	Approved	Chp, WRCH2	uc001znd.3	Q96L33	OTTHUMG00000130134	ENST00000220507.4:c.700T>G	15.37:g.41165267A>C	ENSP00000220507:p.Cys234Gly	NA	Q2KHQ5|Q8TDW6	37	CCDS10068.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.092332	0.76756	.	.	ENSG00000104140	ENST00000220507	T	0.72942	-0.7	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.83608	0.5291	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85743	0.1338	10	0.72032	D	0.01	.	15.3612	0.74475	1.0:0.0:0.0:0.0	.	234	Q96L33	RHOV_HUMAN	G	234	ENSP00000220507:C234G	ENSP00000220507:C234G	C	-	1	0	RHOV	38952559	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.869000	0.92326	2.037000	0.60232	0.254000	0.18369	TGC	RHOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252442.1		-	ENST00000220507.4	Missense_Mutation	SNP	15 : 41165267 - 41165267 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	565	59
CAMK1D	57118	broad.mit.edu	37	10	12858268	12858268	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:12858268C>T	ENST00000378847.3	+	8	1111	c.774C>T	c.(772-774)aaC>aaT	p.N258N	CAMK1D_ENST00000378845.1_Silent_p.N258N	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	258	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TCATTCGGAACCTGATGGAGA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	74	77			NA	NA	10		NA											NA				12858268		2203	4300	6503	SO:0001819	synonymous_variant			AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049	57118	57118			19341	protein-coding gene	gene with protein product		607957			NA	11050006	Standard	NM_020397	XM_006717481	NA	Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.774C>T	10.37:g.12858268C>T		NA	B0YIY0|Q9HD31	37	CCDS7091.1																																																																																			CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046820.1		+	ENST00000378847.3	Silent	SNP	10 : 12858268 - 12858268 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	246	30
KCNH4	23415	broad.mit.edu	37	17	40321559	40321559	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40321559T>C	ENST00000264661.3	-	9	1858	c.1526A>G	c.(1525-1527)aAg>aGg	p.K509R	KCNH4_ENST00000607371.1_Missense_Mutation_p.K509R	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	509					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CATGCGCTGCTTGAGCGGCCG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(117;707 1703 2300 21308 31858)							NA				0													77	70	72			NA	NA	17		NA											NA				40321559		2203	4300	6503	SO:0001583	missense			AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558	23415	23415		Potassium channels, Voltage-gated ion channels / Potassium channels	6253	protein-coding gene	gene with protein product		604528			NA	10455180, 16382104	Standard	NM_012285	NM_012285	NA	Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1526A>G	17.37:g.40321559T>C	ENSP00000264661:p.Lys509Arg	NA		37	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	T	15.31	2.795161	0.50208	.	.	ENSG00000089558	ENST00000264661	D	0.96522	-4.04	4.18	4.18	0.49190	Cyclic nucleotide-binding-like (1);	0.000000	0.40728	N	0.001028	D	0.91205	0.7229	N	0.25286	0.73	0.54753	D	0.999988	B	0.19706	0.038	B	0.26614	0.071	D	0.86502	0.1804	10	0.07482	T	0.82	.	13.3792	0.60759	0.0:0.0:0.0:1.0	.	509	Q9UQ05	KCNH4_HUMAN	R	509	ENSP00000264661:K509R	ENSP00000264661:K509R	K	-	2	0	KCNH4	37575085	1.000000	0.71417	0.999000	0.59377	0.867000	0.49689	6.067000	0.71193	1.744000	0.51775	0.379000	0.24179	AAG	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449791.2		-	ENST00000264661.3	Missense_Mutation	SNP	17 : 40321559 - 40321559 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	437	64
C9orf78	51759	broad.mit.edu	37	9	132590482	132590482	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132590482G>T	ENST00000372447.3	-	9	881	c.828C>A	c.(826-828)gaC>gaA	p.D276E		NM_016520.2	NP_057604.1	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78	276										kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				CATAATGATAGTCATCAGTTG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													222	193	203			NA	NA	9		NA											NA				132590482		2203	4300	6503	SO:0001583	missense			BC017570	CCDS6931.1	9q34.2	2012-03-16			ENSG00000136819	ENSG00000136819	51759	51759			24932	protein-coding gene	gene with protein product	Hepatocellular carcinoma-associated antigen 59				NA	11042152, 12097419	Standard	NM_016520	NM_016520	NA	Approved	HSPC220, HCA59	uc004byp.3	Q9NZ63	OTTHUMG00000020796	ENST00000372447.3:c.828C>A	9.37:g.132590482G>T	ENSP00000361524:p.Asp276Glu	NA	B3KPX8|Q8WVU6|Q9NT39	37	CCDS6931.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657856	0.67586	.	.	ENSG00000136819	ENST00000372447	T	0.49139	0.79	5.56	-0.113	0.13568	.	0.000000	0.85682	D	0.000000	T	0.56031	0.1958	M	0.78049	2.395	0.58432	D	0.999995	D	0.67145	0.996	P	0.58210	0.835	T	0.53676	-0.8405	10	0.46703	T	0.11	.	6.1692	0.20408	0.362:0.0:0.5116:0.1265	.	276	Q9NZ63	CI078_HUMAN	E	276	ENSP00000361524:D276E	ENSP00000361524:D276E	D	-	3	2	C9orf78	131630303	1.000000	0.71417	0.997000	0.53966	0.556000	0.35491	2.631000	0.46502	0.056000	0.16144	-0.181000	0.13052	GAC	C9orf78-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054625.1		-	ENST00000372447.3	Missense_Mutation	SNP	9 : 132590482 - 132590482 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	667	99
EPM2AIP1	9852	broad.mit.edu	37	3	37033662	37033662	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:37033662C>T	ENST00000322716.5	-	1	1133	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K		NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	303						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						ACTATCCATTCGGATATGGTA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	70	71			NA	NA	3		NA											NA				37033662		1881	4101	5982	SO:0001583	missense			AB018309	CCDS46790.1	3p22.1	2003-03-26					9852	9852			19735	protein-coding gene	gene with protein product		607911			NA		Standard	NM_014805	NM_014805	NA	Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.907G>A	3.37:g.37033662C>T	ENSP00000406027:p.Glu303Lys	NA	O94866|Q9H3L3	37	CCDS46790.1	.	.	.	.	.	.	.	.	.	.	C	8.266	0.812362	0.16537	.	.	ENSG00000178567	ENST00000322716	D	0.83591	-1.74	4.8	3.91	0.45181	.	.	.	.	.	T	0.54208	0.1844	N	0.02539	-0.55	0.09310	N	1	B	0.33198	0.401	B	0.29785	0.107	T	0.54241	-0.8323	9	0.02654	T	1	4.1946	6.531	0.22326	0.0:0.7191:0.1851:0.0957	.	303	Q7L775	EPMIP_HUMAN	K	303	ENSP00000406027:E303K	ENSP00000406027:E303K	E	-	1	0	EPM2AIP1	37008666	0.632000	0.27172	0.747000	0.31113	0.992000	0.81027	1.580000	0.36547	1.210000	0.43336	0.557000	0.71058	GAA	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000470593.1		-	ENST00000322716.5	Missense_Mutation	SNP	3 : 37033662 - 37033662 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	31
GPAM	57678	broad.mit.edu	37	10	113928664	113928664	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:113928664C>T	ENST00000348367.4	-	10	1038	c.841G>A	c.(841-843)Gat>Aat	p.D281N	GPAM_ENST00000423155.1_Missense_Mutation_p.D281N|GPAM_ENST00000369425.1_Missense_Mutation_p.D281N			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	281					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		GGTGTTTCATCGAGCCTTCGT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(161;1017 2606 18293 52943)							NA				0													133	126	128			NA	NA	10		NA											NA				113928664		2203	4300	6503	SO:0001583	missense			AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927	57678	57678			24865	protein-coding gene	gene with protein product	glycerol-3-phosphate acyltransferase 1, mitochondrial	602395			NA	10997877, 8369314	Standard	NM_020918	NM_020918	NA	Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.841G>A	10.37:g.113928664C>T	ENSP00000265276:p.Asp281Asn	NA	Q5VW51|Q86TA3	37	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.640772	0.67244	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	D;D;D	0.93133	-3.17;-3.17;-3.17	5.58	5.58	0.84498	Phospholipid/glycerol acyltransferase (2);	0.050745	0.85682	D	0.000000	D	0.93184	0.7829	L	0.31065	0.9	0.80722	D	1	D;D	0.71674	0.998;0.995	P;P	0.60682	0.878;0.83	D	0.92607	0.6096	10	0.40728	T	0.16	-26.5966	14.7486	0.69508	0.0:0.9287:0.0:0.0713	.	281;281	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	N	281	ENSP00000265276:D281N;ENSP00000409242:D281N;ENSP00000358433:D281N	ENSP00000265276:D281N	D	-	1	0	GPAM	113918654	1.000000	0.71417	0.973000	0.42090	0.988000	0.76386	5.084000	0.64462	2.620000	0.88729	0.643000	0.83706	GAT	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050377.1		-	ENST00000348367.4	Missense_Mutation	SNP	10 : 113928664 - 113928664 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	457	75
RPAP3	79657	broad.mit.edu	37	12	48075569	48075569	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48075569C>T	ENST00000005386.3	-	10	1139	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T	RPAP3_ENST00000432584.3_Missense_Mutation_p.A183T|RPAP3_ENST00000380650.4_Missense_Mutation_p.A342T	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	342							binding			endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					AATAAAATGGCTTGTGTGCAG	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	83	86			NA	NA	12		NA											NA				48075569		2203	4299	6502	SO:0001583	missense			AK025561	CCDS8753.1, CCDS53782.1, CCDS53783.1	12q13.11	2013-01-10				ENSG00000005175	79657	79657		Tetratricopeptide (TTC) repeat domain containing	26151	protein-coding gene	gene with protein product		611477			NA	17643375	Standard	NM_024604	NM_024604	NA	Approved	FLJ21908, spag	uc001rpr.3	Q9H6T3	OTTHUMG00000169668	ENST00000005386.3:c.1024G>A	12.37:g.48075569C>T	ENSP00000005386:p.Ala342Thr	NA	Q6PHR5	37	CCDS8753.1	.	.	.	.	.	.	.	.	.	.	C	33	5.226288	0.95173	.	.	ENSG00000005175	ENST00000005386;ENST00000432584;ENST00000380650	T;T;T	0.74002	-0.8;-0.8;-0.8	5.37	5.37	0.77165	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.104094	0.64402	D	0.000003	D	0.89441	0.6716	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	D	0.91390	0.5134	10	0.87932	D	0	.	18.4725	0.90779	0.0:1.0:0.0:0.0	.	342;342	Q9H6T3-2;Q9H6T3	.;RPAP3_HUMAN	T	342;183;342	ENSP00000005386:A342T;ENSP00000401823:A183T;ENSP00000370024:A342T	ENSP00000005386:A342T	A	-	1	0	RPAP3	46361836	1.000000	0.71417	0.982000	0.44146	0.990000	0.78478	7.239000	0.78182	2.689000	0.91719	0.460000	0.39030	GCC	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405340.1		-	ENST00000005386.3	Missense_Mutation	SNP	12 : 48075569 - 48075569 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	274	48
TRAPPC1	58485	broad.mit.edu	37	17	7834371	7834371	+	Silent	SNP	G	G	A	rs150887254		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7834371G>A	ENST00000303731.4	-	3	382	c.267C>T	c.(265-267)ggC>ggT	p.G89G	TRAPPC1_ENST00000540486.1_Silent_p.G89G	NM_021210.4	NP_067033.1	Q9Y5R8	TPPC1_HUMAN	trafficking protein particle complex 1	89					ER to Golgi vesicle-mediated transport	endoplasmic reticulum				breast(1)|lung(2)	3		Prostate(122;0.173)				TGGGTCCCACGCCCAAGTCAG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	3,4403	6.2+/-15.9	0,3,2200	103	91	95		267,267	-0.8	1	17	dbSNP_134	95	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TRAPPC1	NM_001166621.1,NM_021210.4	,	0,3,6500	AA,AG,GG	NA	0.0,0.0681,0.0231	,	89/146,89/146	7834371	3,13003	2203	4300	6503	SO:0001819	synonymous_variant			AF129332	CCDS11125.1	17p13.1	2011-10-10			ENSG00000170043	ENSG00000170043	58485	58485		Trafficking protein particle complex	19894	protein-coding gene	gene with protein product		610969			NA	10582700	Standard	NM_021210	NM_021210	NA	Approved	MUM2, BET5	uc002gjo.2	Q9Y5R8	OTTHUMG00000108171	ENST00000303731.4:c.267C>T	17.37:g.7834371G>A		NA	D3DTR0	37	CCDS11125.1																																																																																			TRAPPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226975.2		-	ENST00000303731.4	Silent	SNP	17 : 7834371 - 7834371 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	12
OR2Z1	284383	broad.mit.edu	37	19	8842076	8842076	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8842076G>A	ENST00000324060.2	+	1	761	c.686G>A	c.(685-687)cGc>cAc	p.R229H		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTAAGCATGCGCTCAGAGGAG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	90	98			NA	NA	19		NA											NA				8842076		2203	4300	6503	SO:0001583	missense			AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733	284383	284383		GPCR / Class A : Olfactory receptors	15391	protein-coding gene	gene with protein product			olfactory receptor, family 2, subfamily Z, member 2	OR2Z2	NA		Standard		NM_001004699	NA	Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.686G>A	19.37:g.8842076G>A	ENSP00000316284:p.Arg229His	NA	B9EH50|Q6IFK0|Q96R25	37	CCDS32895.1	.	.	.	.	.	.	.	.	.	.	G	0.640	-0.813852	0.02798	.	.	ENSG00000181733	ENST00000324060	T	0.39229	1.09	4.67	-2.35	0.06684	GPCR, rhodopsin-like superfamily (1);	0.737439	0.12441	N	0.468674	T	0.13329	0.0323	N	0.02225	-0.63	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.30327	-0.9982	10	0.15499	T	0.54	.	4.9972	0.14245	0.5627:0.1712:0.2661:0.0	.	229	Q8NG97	OR2Z1_HUMAN	H	229	ENSP00000316284:R229H	ENSP00000316284:R229H	R	+	2	0	OR2Z1	8703076	0.000000	0.05858	0.847000	0.33407	0.021000	0.10359	-0.920000	0.04013	-0.100000	0.12241	-0.287000	0.09952	CGC	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459954.1		+	ENST00000324060.2	Missense_Mutation	SNP	19 : 8842076 - 8842076 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	397	77
MAP4K3	8491	broad.mit.edu	37	2	39583458	39583458	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39583458C>A	ENST00000263881.3	-	3	501	c.177G>T	c.(175-177)caG>caT	p.Q59H	MAP4K3_ENST00000341681.5_Missense_Mutation_p.Q59H|MAP4K3_ENST00000437545.1_5'UTR|MAP4K3_ENST00000484274.1_Missense_Mutation_p.Q59H	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	59	Protein kinase.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TAATTTCTTGCTGCACAACTG	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													170	181	177			NA	NA	2		NA											NA				39583458		2203	4298	6501	SO:0001583	missense			AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566	8491	8491		Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1	NA	9275185	Standard	NM_003618	NM_003618	NA	Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.177G>T	2.37:g.39583458C>A	ENSP00000263881:p.Gln59His	NA	Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	37	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398983	0.83120	.	.	ENSG00000011566	ENST00000263881;ENST00000341681	T;T	0.66460	-0.21;-0.21	5.48	4.59	0.56863	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70456	0.3226	L	0.52759	1.655	0.80722	D	1	P;P	0.49307	0.922;0.707	P;P	0.54924	0.764;0.655	T	0.68792	-0.5315	9	.	.	.	.	12.6098	0.56544	0.0:0.9184:0.0:0.0816	.	59;59	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	H	59	ENSP00000263881:Q59H;ENSP00000345434:Q59H	.	Q	-	3	2	MAP4K3	39436962	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.236000	0.58675	2.563000	0.86464	0.561000	0.74099	CAG	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219966.2		-	ENST00000263881.3	Missense_Mutation	SNP	2 : 39583458 - 39583458 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	644	99
COL6A3	1293	broad.mit.edu	37	2	238249523	238249523	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238249523C>T	ENST00000295550.4	-	38	8488	c.8036G>A	c.(8035-8037)aGc>aAc	p.S2679N	COL6A3_ENST00000472056.1_Missense_Mutation_p.S2072N|COL6A3_ENST00000409809.1_Missense_Mutation_p.S2473N|COL6A3_ENST00000346358.4_Missense_Mutation_p.S2479N|COL6A3_ENST00000353578.4_Missense_Mutation_p.S2473N|COL6A3_ENST00000347401.3_Missense_Mutation_p.S2478N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2679	Nonhelical region.|VWFA 12.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGGTGGCATGCTGGCATTGTC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	79	81			NA	NA	2		NA											NA				238249523		2203	4300	6503	SO:0001583	missense			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359	1293	1293		Collagens	2213	protein-coding gene	gene with protein product		120250			NA	1339440, 11992252	Standard	NM_004369	NM_004369	NA	Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.8036G>A	2.37:g.238249523C>T	ENSP00000295550:p.Ser2679Asn	NA	Q16501|Q53QF4|Q53QF6	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	4.441	0.081634	0.08533	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.88586	-2.4;-2.39;-2.37;-2.37;-2.37;-2.36	5.16	5.16	0.70880	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000005	D	0.92821	0.7717	L	0.55481	1.735	0.41280	D	0.986903	D;D;D	0.76494	0.997;0.996;0.999	D;P;D	0.85130	0.939;0.899;0.997	D	0.90740	0.4649	10	0.25106	T	0.35	.	19.0071	0.92856	0.0:1.0:0.0:0.0	.	2072;2473;2679	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	N	2679;2478;2473;2072;2473;2479	ENSP00000295550:S2679N;ENSP00000315609:S2478N;ENSP00000315873:S2473N;ENSP00000418285:S2072N;ENSP00000386844:S2473N;ENSP00000295546:S2479N	ENSP00000295550:S2679N	S	-	2	0	COL6A3	237914262	0.985000	0.35326	0.653000	0.29593	0.037000	0.13140	2.573000	0.46007	2.536000	0.85505	0.655000	0.94253	AGC	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000315790.2		-	ENST00000295550.4	Missense_Mutation	SNP	2 : 238249523 - 238249523 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	295	65
CSPG5	10675	broad.mit.edu	37	3	47618869	47618869	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47618869A>G	ENST00000383738.2	-	2	2745	c.647T>C	c.(646-648)cTg>cCg	p.L216P	CSPG5_ENST00000264723.4_Missense_Mutation_p.L216P|CSPG5_ENST00000456150.1_Missense_Mutation_p.L78P	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	216					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CTCACCATCCAGTCCTTCGAA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	50	50			NA	NA	3		NA											NA				47618869		2203	4300	6503	SO:0001583	missense			AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646	10675	10675			2467	protein-coding gene	gene with protein product		606775			NA	9950058	Standard	NM_006574	NM_006574	NA	Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.647T>C	3.37:g.47618869A>G	ENSP00000373244:p.Leu216Pro	NA	Q71M39|Q71M40	37	CCDS56253.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.935608	0.73442	.	.	ENSG00000114646	ENST00000456150;ENST00000383738;ENST00000264723	T;T;T	0.56444	0.46;0.46;0.46	4.41	4.41	0.53225	Chondroitin sulphate attachment (1);	0.238565	0.28544	N	0.014970	T	0.58680	0.2139	L	0.27053	0.805	0.54753	D	0.999984	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	T	0.59994	-0.7349	10	0.46703	T	0.11	-9.1734	12.8895	0.58064	1.0:0.0:0.0:0.0	.	216;216	O95196;O95196-2	CSPG5_HUMAN;.	P	78;216;216	ENSP00000392096:L78P;ENSP00000373244:L216P;ENSP00000264723:L216P	ENSP00000264723:L216P	L	-	2	0	CSPG5	47593873	0.947000	0.32204	0.998000	0.56505	0.990000	0.78478	3.974000	0.56852	1.969000	0.57287	0.523000	0.50628	CTG	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257489.1		-	ENST00000383738.2	Missense_Mutation	SNP	3 : 47618869 - 47618869 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	281	48
NDEL1	81565	broad.mit.edu	37	17	8358148	8358148	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8358148T>C	ENST00000380025.4	+	7	893	c.735T>C	c.(733-735)acT>acC	p.T245T	NDEL1_ENST00000402554.3_Silent_p.T245T|NDEL1_ENST00000334527.7_Silent_p.T245T|NDEL1_ENST00000299734.7_Silent_p.T245T|NDEL1_ENST00000585098.1_Intron			Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	245	Interaction with CENPF.|Interaction with DISC1.|Interaction with KATNA1 (By similarity).|Interaction with NEFL (By similarity).|Interaction with YWHAE (By similarity).				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle				large_intestine(6)|lung(4)|skin(3)	13						GTCCACTAACTCCCTCTGCTA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													240	239	239			NA	NA	17		NA											NA				8358148		2203	4300	6503	SO:0001819	synonymous_variant			AF182078	CCDS11143.1, CCDS32564.1	17p13.1	2013-08-06	2013-08-06	2003-04-16	ENSG00000166579	ENSG00000166579	81565	81565			17620	protein-coding gene	gene with protein product		607538	nudE nuclear distribution gene E homolog (A. nidulans)-like 1, nudE nuclear distribution E homolog (A. nidulans)-like 1		NA	11163260, 11163259	Standard	NM_030808	NM_001025579	NA	Approved	NUDEL, MITAP1, NDE1L1, NDE2	uc002glj.4	Q9GZM8	OTTHUMG00000108193	ENST00000380025.4:c.735T>C	17.37:g.8358148T>C		NA	B3KP93|D3DTS0|Q86T80|Q8TAR7|Q9UH50	37																																																																																				NDEL1-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000442478.1		+	ENST00000380025.4	Silent	SNP	17 : 8358148 - 8358148 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1033	214
PDXK	8566	broad.mit.edu	37	21	45152453	45152453	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45152453G>A	ENST00000327574.4	+	2	545	c.195G>A	c.(193-195)aaG>aaA	p.K65K	PDXK_ENST00000291565.4_Intron|PDXK_ENST00000476313.1_Intron|PDXK_ENST00000398081.1_Intron|PDXK_ENST00000468090.1_Intron			O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	0					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	ACACCCAGAAGCAGTGGAGCA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													177	180	179			NA	NA	21		NA											NA				45152453		876	1991	2867	SO:0001819	synonymous_variant			U89606	CCDS13699.1	21q22.3	2007-05-10			ENSG00000160209	ENSG00000160209	8566	8566	2.7.1.35		8819	protein-coding gene	gene with protein product		179020	chromosome 21 open reading frame 97, chromosome 21 open reading frame 124	C21orf97, C21orf124	NA	9099727	Standard	NM_003681	NM_003681	NA	Approved	PNK, PKH, FLJ21324, PRED79, FLJ31940, MGC15873	uc002zdm.4	O00764	OTTHUMG00000086870	ENST00000327574.4:c.195G>A	21.37:g.45152453G>A		NA	Q7Z2Y0|Q9BS02	37																																																																																				PDXK-019	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000195656.1		+	ENST00000327574.4	Silent	SNP	21 : 45152453 - 45152453 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	697	63
TRPV6	55503	broad.mit.edu	37	7	142572291	142572291	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142572291C>T	ENST00000359396.3	-	11	1650	c.1405G>A	c.(1405-1407)Gcc>Acc	p.A469T		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	469					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					AATCCTCGGGCGAAGTACATG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	119	121			NA	NA	7		NA											NA				142572291		2203	4300	6503	SO:0001583	missense			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125	55503	55503		Voltage-gated ion channels / Transient receptor potential cation channels, Ankyrin repeat domain containing	14006	protein-coding gene	gene with protein product		606680	epithelial calcium channel 2	ECAC2	NA	11097838, 11549322, 16382100, 16717058	Standard	NM_014274	NM_018646	NA	Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1405G>A	7.37:g.142572291C>T	ENSP00000352358:p.Ala469Thr	NA	A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	37	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635558	0.67130	.	.	ENSG00000165125	ENST00000359396;ENST00000311470;ENST00000436401	D;D	0.85955	-2.05;-2.05	4.32	3.43	0.39272	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.82287	0.5004	L	0.35487	1.065	0.80722	D	1	D	0.59767	0.986	P	0.55391	0.775	T	0.77239	-0.2661	10	0.10377	T	0.69	-24.1663	11.7795	0.52006	0.0:0.9133:0.0:0.0867	.	469	Q9H1D0	TRPV6_HUMAN	T	469;301;92	ENSP00000352358:A469T;ENSP00000411100:A92T	ENSP00000310825:A301T	A	-	1	0	TRPV6	142282413	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.616000	0.83018	1.175000	0.42826	0.561000	0.74099	GCC	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347662.1		-	ENST00000359396.3	Missense_Mutation	SNP	7 : 142572291 - 142572291 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	503	78
OR2F2	135948	broad.mit.edu	37	7	143632519	143632519	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143632519A>G	ENST00000408955.2	+	1	261	c.194A>G	c.(193-195)aAc>aGc	p.N65S		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TTTCTCACCAACCTCTCCCTT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													245	237	240			NA	NA	7		NA											NA				143632519		2203	4300	6503	SO:0001583	missense				CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910	135948	135948		GPCR / Class A : Olfactory receptors	8247	protein-coding gene	gene with protein product					NA		Standard		NM_001004685	NA	Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.194A>G	7.37:g.143632519A>G	ENSP00000386222:p.Asn65Ser	NA	A4D2G0|Q6IFP8	37	CCDS43666.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.927836	0.52759	.	.	ENSG00000221910	ENST00000408955	T	0.01963	4.53	3.49	2.32	0.28847	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000030	T	0.04724	0.0128	M	0.66939	2.045	0.31028	N	0.717781	D	0.54772	0.968	P	0.49140	0.601	T	0.09164	-1.0687	10	0.66056	D	0.02	-26.1493	6.8745	0.24139	0.883:0.0:0.117:0.0	.	65	O95006	OR2F2_HUMAN	S	65	ENSP00000386222:N65S	ENSP00000386222:N65S	N	+	2	0	OR2F2	143263452	0.998000	0.40836	0.991000	0.47740	0.888000	0.51559	4.936000	0.63506	0.527000	0.28560	0.402000	0.26972	AAC	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349570.1		+	ENST00000408955.2	Missense_Mutation	SNP	7 : 143632519 - 143632519 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1599	257
NKAPL	222698	broad.mit.edu	37	6	28227547	28227547	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28227547C>T	ENST00000343684.3	+	1	450	c.398C>T	c.(397-399)gCg>gTg	p.A133V		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	133										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GAATTGGGAGCGCCTGAAGTG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	106	104			NA	NA	6		NA											NA				28227547		2203	4300	6503	SO:0001583	missense			BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134	222698	222698			21584	protein-coding gene	gene with protein product			chromosome 6 open reading frame 194	C6orf194	NA		Standard		NM_001007531	NA	Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.398C>T	6.37:g.28227547C>T	ENSP00000345716:p.Ala133Val	NA	Q3MIV1|Q9H4Q7	37	CCDS34353.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.873503	0.33069	.	.	ENSG00000189134	ENST00000343684	T	0.11930	2.73	5.1	4.23	0.50019	.	0.110110	0.64402	D	0.000008	T	0.04861	0.0131	M	0.79475	2.455	0.09310	N	1	P	0.48998	0.918	B	0.33799	0.17	T	0.31052	-0.9957	10	0.15066	T	0.55	-12.5193	9.4232	0.38563	0.0:0.9047:0.0:0.0953	.	133	Q5M9Q1	NKAPL_HUMAN	V	133	ENSP00000345716:A133V	ENSP00000345716:A133V	A	+	2	0	NKAPL	28335526	0.971000	0.33674	0.007000	0.13788	0.809000	0.45718	2.535000	0.45685	1.530000	0.49136	0.655000	0.94253	GCG	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040185.1		+	ENST00000343684.3	Missense_Mutation	SNP	6 : 28227547 - 28227547 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	876	111
SCN9A	6335	broad.mit.edu	37	2	167163471	167163471	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167163471T>C	ENST00000409672.1	-	3	718	c.372A>G	c.(370-372)gtA>gtG	p.V124V	SCN9A_ENST00000375387.4_Silent_p.V124V|SCN9A_ENST00000409435.1_Silent_p.V124V|SCN9A_ENST00000303354.6_Silent_p.V124V	NM_002977.3	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	124						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GATATGAGTGTACTAAAATCT	0.313		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	2		NA											NA				167163471		1809	4072	5881	SO:0001819	synonymous_variant			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432	6335	6335		Sodium channels, Voltage-gated ion channels / Sodium channels	10597	protein-coding gene	gene with protein product		603415	sodium channel, voltage-gated, type IX, alpha polypeptide		NA	7720699, 10198179, 16382098	Standard	NM_002977	NM_002977	NA	Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409672.1:c.372A>G	2.37:g.167163471T>C		NA	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	37	CCDS46441.1																																																																																			SCN9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333636.1		-	ENST00000409672.1	Silent	SNP	2 : 167163471 - 167163471 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	100	30
FLRT3	23767	broad.mit.edu	37	20	14307947	14307947	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:14307947T>C	ENST00000378053.3	-	2	462	c.206A>G	c.(205-207)cAa>cGa	p.Q69R	MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.Q69R|MACROD2_ENST00000310348.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	69					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		ATTATTTATTTGGTTGTTCTG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	129	126			NA	NA	20		NA											NA				14307947		2202	4300	6502	SO:0001583	missense			AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848	23767	23767		Fibronectin type III domain containing	3762	protein-coding gene	gene with protein product		604808			NA	10644439	Standard	NM_013281	NM_198391	NA	Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.206A>G	20.37:g.14307947T>C	ENSP00000367292:p.Gln69Arg	NA	D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	37	CCDS13121.1	.	.	.	.	.	.	.	.	.	.	T	11.18	1.562035	0.27915	.	.	ENSG00000125848	ENST00000378053;ENST00000341420;ENST00000541882	T;T	0.39787	1.06;1.06	6.06	4.94	0.65067	.	0.143023	0.49916	D	0.000123	T	0.28267	0.0698	N	0.16833	0.445	0.44834	D	0.997845	B	0.14012	0.009	B	0.15052	0.012	T	0.03354	-1.1045	10	0.30078	T	0.28	-10.4966	13.4394	0.61104	0.0:0.0:0.1308:0.8692	.	69	Q9NZU0	FLRT3_HUMAN	R	69	ENSP00000367292:Q69R;ENSP00000339912:Q69R	ENSP00000339912:Q69R	Q	-	2	0	FLRT3	14255947	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.758000	0.68776	1.077000	0.40990	0.533000	0.62120	CAA	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078075.1		-	ENST00000378053.3	Missense_Mutation	SNP	20 : 14307947 - 14307947 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	800	143
PIK3CG	5294	broad.mit.edu	37	7	106513018	106513018	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:106513018G>A	ENST00000359195.3	+	3	2342	c.2032G>A	c.(2032-2034)Gcc>Acc	p.A678T	PIK3CG_ENST00000440650.2_Missense_Mutation_p.A678T|PIK3CG_ENST00000496166.1_Missense_Mutation_p.A678T	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	678					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TAGCGCCCTTGCCAGATTTCT	0.393		NA											G	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0													198	189	192			NA	NA	7		NA											NA				106513018		2203	4300	6503	SO:0001583	missense				CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	5294	5294	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	phosphoinositide-3-kinase, catalytic, gamma polypeptide		NA		Standard		XM_005250443	NA	Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2032G>A	7.37:g.106513018G>A	ENSP00000352121:p.Ala678Thr	NA	Q8IV23|Q9BZC8	37	CCDS5739.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	34	5.301109	0.95601	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.65178	-0.14;-0.14;-0.14	5.62	5.62	0.85841	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.260360	0.44097	D	0.000491	T	0.67325	0.2881	L	0.55834	1.745	0.53005	D	0.999962	P	0.40875	0.731	P	0.50570	0.644	T	0.61103	-0.7130	10	0.25106	T	0.35	-13.3468	14.8206	0.70070	0.0:0.0:0.856:0.144	.	678	P48736	PK3CG_HUMAN	T	678	ENSP00000392258:A678T;ENSP00000419260:A678T;ENSP00000352121:A678T	ENSP00000352121:A678T	A	+	1	0	PIK3CG	106300254	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.420000	0.80191	2.809000	0.96659	0.655000	0.94253	GCC	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349294.1		+	ENST00000359195.3	Missense_Mutation	SNP	7 : 106513018 - 106513018 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	588	147
C10orf68	0	broad.mit.edu	37	10	32983848	32983848	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32983848C>T	ENST00000375030.2	+	9	949	c.331C>T	c.(331-333)Caa>Taa	p.Q111*	C10orf68_ENST00000375025.4_Nonsense_Mutation_p.Q103*|C10orf68_ENST00000375028.3_Intron			Q9H943	CJ068_HUMAN		103										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						GCTTGAACATCAAGATTCAGT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	45	45			NA	NA	10		NA											NA				32983848		2201	4298	6499	SO:0001587	stop_gained											NA	NA			NA							NA					NA						ENST00000375030.2:c.331C>T	10.37:g.32983848C>T	ENSP00000364170:p.Gln111*	NA	B0QZ71|Q08AN7|Q8N7T7	37		.	.	.	.	.	.	.	.	.	.	.	21.5	4.154936	0.78114	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375025	.	.	.	2.91	-0.495	0.12030	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	5.0702	0.14602	0.4208:0.3728:0.2064:0.0	.	.	.	.	X	103;111;103	.	ENSP00000303710:Q103X	Q	+	1	0	C10orf68	33023854	0.014000	0.17966	0.001000	0.08648	0.028000	0.11728	0.956000	0.29202	-0.100000	0.12241	0.467000	0.42956	CAA	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000313999.2		+	ENST00000375030.2	Nonsense_Mutation	SNP	10 : 32983848 - 32983848 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	160	26
CD207	50489	broad.mit.edu	37	2	71060782	71060782	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71060782C>T	ENST00000410009.3	-	3	605	c.560G>A	c.(559-561)cGa>cAa	p.R187Q		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	187					defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						CTTACTTTGTCGTTTGAGCAA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	61	63			NA	NA	2		NA											NA				71060782		1887	4100	5987	SO:0001583	missense			AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031	50489	50489		C-type lectin domain containing, CD molecules	17935	protein-coding gene	gene with protein product		604862	CD207 antigen, langerin		NA	10661407, 9847074	Standard	NM_015717	NM_015717	NA	Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.560G>A	2.37:g.71060782C>T	ENSP00000386378:p.Arg187Gln	NA		37		.	.	.	.	.	.	.	.	.	.	C	0.007	-1.958792	0.00465	.	.	ENSG00000116031	ENST00000410009	T	0.28454	1.61	4.01	0.32	0.15878	.	0.885835	0.09699	N	0.767266	T	0.09774	0.0240	N	0.02315	-0.6	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.33574	-0.9863	10	0.17832	T	0.49	.	2.4971	0.04624	0.2028:0.2341:0.0:0.5631	.	187	Q9UJ71	CLC4K_HUMAN	Q	187	ENSP00000386378:R187Q	ENSP00000386378:R187Q	R	-	2	0	CD207	70914290	0.005000	0.15991	0.036000	0.18154	0.022000	0.10575	-0.415000	0.07106	0.043000	0.15746	-1.087000	0.02190	CGA	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000329959.4		-	ENST00000410009.3	Missense_Mutation	SNP	2 : 71060782 - 71060782 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	88	29
GMPPA	29926	broad.mit.edu	37	2	220366724	220366724	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220366724C>T	ENST00000358215.3	+	5	763	c.394C>T	c.(394-396)Cgc>Tgc	p.R132C	GMPPA_ENST00000313597.5_Missense_Mutation_p.R132C|GMPPA_ENST00000373908.1_Missense_Mutation_p.R132C|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373917.3_Missense_Mutation_p.R132C|GMPPA_ENST00000341142.3_Missense_Mutation_p.R132C	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	132					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		AGCCCACCGACGCCAGCGTCA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	158	164			NA	NA	2		NA											NA				220366724		2203	4300	6503	SO:0001583	missense			AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591	29926	29926			22923	protein-coding gene	gene with protein product		615495			NA		Standard	NM_013335	NM_205847	NA	Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.394C>T	2.37:g.220366724C>T	ENSP00000350949:p.Arg132Cys	NA	A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	37	CCDS2441.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.197552	0.38806	.	.	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000455657;ENST00000435316;ENST00000341142;ENST00000373924	D;D;D;D;T;T;D	0.94330	-3.4;-3.4;-3.4;-3.4;-0.75;-0.75;-3.4	4.89	0.823	0.18812	Nucleotidyl transferase (1);	0.667620	0.15013	N	0.285472	D	0.86847	0.6031	L	0.33339	1.005	0.39447	D	0.967333	B;B	0.13145	0.003;0.007	B;B	0.15484	0.003;0.013	T	0.77803	-0.2451	10	0.45353	T	0.12	-18.2	6.5315	0.22330	0.0:0.651:0.1293:0.2197	.	132;132	Q96IJ6-2;Q96IJ6	.;GMPPA_HUMAN	C	132;132;132;132;132;97;132;62	ENSP00000315925:R132C;ENSP00000363027:R132C;ENSP00000350949:R132C;ENSP00000363016:R132C;ENSP00000392465:R132C;ENSP00000411060:R97C;ENSP00000340760:R132C	ENSP00000315925:R132C	R	+	1	0	GMPPA	220074968	0.985000	0.35326	0.982000	0.44146	0.641000	0.38312	1.580000	0.36547	0.143000	0.18926	-0.291000	0.09656	CGC	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130230.1		+	ENST00000358215.3	Missense_Mutation	SNP	2 : 220366724 - 220366724 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1472	127
WDR5B	54554	broad.mit.edu	37	3	122134224	122134224	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122134224G>T	ENST00000330689.4	-	1	658	c.152C>A	c.(151-153)cCt>cAt	p.P51H		NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	51										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		TTCTCCATTAGGACTAAACTT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													195	191	192			NA	NA	3		NA											NA				122134224		2203	4300	6503	SO:0001583	missense			AK002149	CCDS3012.1	3q21.1	2013-01-09			ENSG00000196981	ENSG00000196981	54554	54554		WD repeat domain containing	17826	protein-coding gene	gene with protein product					NA	10369878	Standard	NM_019069	NM_019069	NA	Approved	FLJ11287	uc003efa.1	Q86VZ2	OTTHUMG00000159489	ENST00000330689.4:c.152C>A	3.37:g.122134224G>T	ENSP00000330381:p.Pro51His	NA	B2RCM9|Q9NUL4	37	CCDS3012.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.934146	0.52866	.	.	ENSG00000196981	ENST00000330689	T	0.70516	-0.49	4.78	3.89	0.44902	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.70657	0.3249	M	0.78456	2.415	0.80722	D	1	P	0.40180	0.705	B	0.38921	0.285	T	0.75528	-0.3286	10	0.72032	D	0.01	.	12.3839	0.55322	0.0:0.0:0.8302:0.1698	.	51	Q86VZ2	WDR5B_HUMAN	H	51	ENSP00000330381:P51H	ENSP00000330381:P51H	P	-	2	0	WDR5B	123616914	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.334000	0.90028	1.354000	0.45846	-0.311000	0.09066	CCT	WDR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355753.1		-	ENST00000330689.4	Missense_Mutation	SNP	3 : 122134224 - 122134224 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1282	221
MRPS21	54460	broad.mit.edu	37	1	150280587	150280587	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150280587C>A	ENST00000369084.5	+	2	636	c.189C>A	c.(187-189)atC>atA	p.I63I	MRPS21_ENST00000309092.7_Silent_p.I63I	NM_018997.3	NP_061870.1	P82921	RT21_HUMAN	mitochondrial ribosomal protein S21	63					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	4	Lung NSC(24;5.57e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCGGCGGATCTACAACATGG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	55	58			NA	NA	1		NA											NA				150280587		2203	4300	6503	SO:0001819	synonymous_variant			AB051353	CCDS950.1	1q21	2012-09-13			ENSG00000187145		54460	54460		Mitochondrial ribosomal proteins / small subunits	14046	protein-coding gene	gene with protein product		611984			NA		Standard	NM_018997	NM_031901	NA	Approved		uc001euk.3	P82921	OTTHUMG00000012544	ENST00000369084.5:c.189C>A	1.37:g.150280587C>A		NA	Q9BST6	37	CCDS950.1																																																																																			MRPS21-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000035813.1		+	ENST00000369084.5	Silent	SNP	1 : 150280587 - 150280587 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	343	12
PCDHB14	56122	broad.mit.edu	37	5	140603489	140603489	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140603489A>C	ENST00000239449.4	+	1	412	c.412A>C	c.(412-414)Ata>Cta	p.I138L	PCDHB14_ENST00000515856.2_5'UTR	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	138	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGACAAGGAAATACTTATTAA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(141;50 1831 27899 33809 37648)							NA				0													67	73	71			NA	NA	5		NA											NA				140603489		2198	4300	6498	SO:0001583	missense			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327	56122	56122		Cadherins / Protocadherins : Clustered	8685	other	protocadherin		606340			NA	10380929	Standard	NM_018934	NM_018934	NA	Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.412A>C	5.37:g.140603489A>C	ENSP00000239449:p.Ile138Leu	NA	Q4FZA4|Q4KN11	37	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	15.54	2.863918	0.51482	.	.	ENSG00000120327	ENST00000239449	T	0.19532	2.14	4.92	3.73	0.42828	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.15089	0.0364	L	0.51422	1.61	0.48830	D	0.999719	B	0.13145	0.007	B	0.12837	0.008	T	0.10451	-1.0629	9	0.15952	T	0.53	.	3.0982	0.06317	0.6325:0.1471:0.0792:0.1412	.	138	Q9Y5E9	PCDBE_HUMAN	L	138	ENSP00000239449:I138L	ENSP00000239449:I138L	I	+	1	0	PCDHB14	140583673	0.000000	0.05858	0.977000	0.42913	0.996000	0.88848	-0.073000	0.11468	0.797000	0.33971	0.528000	0.53228	ATA	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251814.2		+	ENST00000239449.4	Missense_Mutation	SNP	5 : 140603489 - 140603489 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	695	146
ITGB2	3689	broad.mit.edu	37	21	46320235	46320235	+	Splice_Site	SNP	G	G	A	rs150327269		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46320235G>A	ENST00000397854.3	-	6	763	c.726C>T	c.(724-726)ttC>ttT	p.F242F	ITGB2_ENST00000355153.4_Splice_Site_p.F299F|ITGB2_ENST00000397852.1_Splice_Site_p.F299F|ITGB2_ENST00000397857.1_Splice_Site_p.F299F|ITGB2_ENST00000302347.5_Splice_Site_p.F299F|ITGB2_ENST00000397850.2_Splice_Site_p.F299F			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	299	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GGGGACTTACGAATTCGTTGC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	1,4405	2.1+/-5.4	0,1,2202	120	94	103		897,897	-7	0.4	21	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	ITGB2	NM_000211.3,NM_001127491.1	,	0,2,6501	AA,AG,GG	NA	0.0116,0.0227,0.0154	,	299/770,299/770	46320235	2,13004	2203	4300	6503	SO:0001630	splice_region_variant			AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255	3689	3689		CD molecules, Complement system, Integrins	6155	protein-coding gene	gene with protein product		600065	integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)	CD18, MFI7	NA		Standard	NM_000211	NM_000211	NA	Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397854.3:c.726+1C>T	21.37:g.46320235G>A		NA	B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	37																																																																																				ITGB2-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000206567.1	Silent	-	ENST00000397854.3	Splice_Site	SNP	21 : 46320235 - 46320235 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	344	35
USP6NL	9712	broad.mit.edu	37	10	11504924	11504924	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11504924C>A	ENST00000609104.1	-	15	2397	c.2003G>T	c.(2002-2004)aGg>aTg	p.R668M	USP6NL_ENST00000277575.5_Missense_Mutation_p.R685M|USP6NL_ENST00000379237.2_Missense_Mutation_p.R691M	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	NA						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						ATGAGGTCTCCTGGAAGGATT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	26	26			NA	NA	10		NA											NA				11504924		1906	4127	6033	SO:0001583	missense			BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429	9712	9712			16858	protein-coding gene	gene with protein product	related to the N terminus of tre	605405	USP6NL intronic transcript 1 (non-protein coding)	USP6NL-IT1	NA	8700515, 8700527, 12399475	Standard	NM_014688	XR_247492	NA	Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.2003G>T	10.37:g.11504924C>A	ENSP00000476462:p.Arg668Met	NA	A8KA79|Q15400|Q5VV10|Q7L0K9	37	CCDS53492.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575025	0.65878	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.04603	3.59;3.59	6.17	6.17	0.99709	.	0.162898	0.42172	D	0.000760	T	0.14700	0.0355	L	0.59436	1.845	0.09310	N	1	D;D	0.76494	0.998;0.999	P;D	0.63192	0.818;0.912	T	0.09487	-1.0672	10	0.51188	T	0.08	.	11.0573	0.47927	0.0:0.8635:0.0:0.1365	.	668;685	Q92738;Q92738-2	US6NL_HUMAN;.	M	668;685;668	ENSP00000277575:R685M;ENSP00000368539:R668M	ENSP00000277575:R685M	R	-	2	0	USP6NL	11544930	0.038000	0.19896	0.042000	0.18584	0.008000	0.06430	2.740000	0.47418	2.941000	0.99782	0.655000	0.94253	AGG	USP6NL-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046764.3		-	ENST00000609104.1	Missense_Mutation	SNP	10 : 11504924 - 11504924 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	124	27
SNAP29	9342	broad.mit.edu	37	22	21242053	21242053	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21242053C>T	ENST00000215730.7	+	5	834	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W		NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	NA	t-SNARE coiled-coil homology.				cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			CATTCTTGACCGGCTGACAAC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	132	138			NA	NA	22		NA											NA				21242053		2203	4300	6503	SO:0001583	missense			AF115436	CCDS13784.1	22q11.21	2008-06-10	2002-08-29		ENSG00000099940	ENSG00000099940	9342	9342			11133	protein-coding gene	gene with protein product	soluble 29 kDa NSF attachment protein	604202	synaptosomal-associated protein, 29kD		NA	9852078, 10591208	Standard	NM_004782	NM_004782	NA	Approved	SNAP-29, CEDNIK	uc011ahw.2	O95721	OTTHUMG00000150765	ENST00000215730.7:c.706C>T	22.37:g.21242053C>T	ENSP00000215730:p.Arg236Trp	NA		37	CCDS13784.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.985515	0.93044	.	.	ENSG00000099940	ENST00000215730;ENST00000439214	.	.	.	5.99	5.99	0.97316	Target SNARE coiled-coil domain (3);	0.175838	0.51477	D	0.000086	D	0.84795	0.5551	M	0.87971	2.92	0.58432	D	0.999999	D	0.89917	1.0	D	0.68621	0.959	D	0.86213	0.1626	9	0.87932	D	0	-10.08	20.0728	0.97731	0.0:1.0:0.0:0.0	.	236	O95721	SNP29_HUMAN	W	236;143	.	ENSP00000215730:R236W	R	+	1	2	SNAP29	19572053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.542000	0.45744	2.840000	0.97914	0.655000	0.94253	CGG	SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320000.4		+	ENST00000215730.7	Missense_Mutation	SNP	22 : 21242053 - 21242053 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	453	83
RAB3IP	117177	broad.mit.edu	37	12	70149369	70149369	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70149369T>C	ENST00000550536.1	+	2	686	c.229T>C	c.(229-231)Tct>Cct	p.S77P	RAB3IP_ENST00000247833.7_Missense_Mutation_p.S61P|RAB3IP_ENST00000362025.5_Missense_Mutation_p.S77P|RAB3IP_ENST00000483530.2_Missense_Mutation_p.S61P|RAB3IP_ENST00000378815.6_Missense_Mutation_p.S61P|RAB3IP_ENST00000325555.9_5'UTR	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	77					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			ATTAGATGTTTCTGAACTTCC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	143	148			NA	NA	12		NA											NA				70149369		2203	4300	6503	SO:0001583	missense				CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328	117177	117177			16508	protein-coding gene	gene with protein product	rabin3	608686			NA		Standard	NM_022456	NM_175623	NA	Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000550536.1:c.229T>C	12.37:g.70149369T>C	ENSP00000447300:p.Ser77Pro	NA	B7WPJ6|Q6PCE4|Q96A24|Q96QE6|Q96QE7|Q96QE8|Q96QE9|Q96QF1|Q9H673	37	CCDS8993.1	.	.	.	.	.	.	.	.	.	.	T	19.82	3.897894	0.72639	.	.	ENSG00000127328	ENST00000247833;ENST00000378815;ENST00000483530;ENST00000549760;ENST00000550536;ENST00000362025	T;T	0.49139	0.8;0.79	5.93	5.93	0.95920	.	0.104008	0.64402	D	0.000003	T	0.40247	0.1109	L	0.29908	0.895	0.80722	D	1	D;P;D;D	0.53151	0.958;0.895;0.958;0.958	B;B;B;B	0.44044	0.439;0.422;0.277;0.439	T	0.39251	-0.9623	10	0.66056	D	0.02	.	12.843	0.57813	0.0:0.0:0.1359:0.8641	.	77;77;61;61	Q96QF0-4;Q96QF0;Q96QF0-3;Q96QF0-7	.;RAB3I_HUMAN;.;.	P	61;61;61;61;77;77	ENSP00000247833:S61P;ENSP00000447300:S77P	ENSP00000247833:S61P	S	+	1	0	RAB3IP	68435636	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.381000	0.52455	2.271000	0.75665	0.533000	0.62120	TCT	RAB3IP-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280669.2		+	ENST00000550536.1	Missense_Mutation	SNP	12 : 70149369 - 70149369 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	443	81
ZNF425	155054	broad.mit.edu	37	7	148801594	148801594	+	Missense_Mutation	SNP	T	T	C	rs148457097		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148801594T>C	ENST00000378061.2	-	4	1501	c.1369A>G	c.(1369-1371)Atg>Gtg	p.M457V		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	457					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGGGCGCGCATGGCGTTCCTC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								T	VAL/MET	0,4406		0,0,2203	34	35	34		1369	-1.5	0	7	dbSNP_134	34	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF425	NM_001001661.2	21	0,1,6502	CC,CT,TT	NA	0.0116,0.0,0.0077	benign	457/753	148801594	1,13005	2203	4300	6503	SO:0001583	missense			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947	155054	155054		Zinc fingers, C2H2-type, -	20690	protein-coding gene	gene with protein product					NA		Standard	XM_088140	NM_001001661	NA	Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1369A>G	7.37:g.148801594T>C	ENSP00000367300:p.Met457Val	NA	B3KPM1|Q08AG3	37	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	T	18.77	3.695657	0.68386	0.0	1.16E-4	ENSG00000204947	ENST00000378061	T	0.17213	2.29	3.17	-1.54	0.08584	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10465	0.0256	L	0.31664	0.95	0.09310	N	1	B	0.33694	0.421	B	0.31191	0.125	T	0.27673	-1.0067	9	0.87932	D	0	.	5.7292	0.18030	0.1752:0.0:0.5343:0.2906	.	457	Q6IV72	ZN425_HUMAN	V	457	ENSP00000367300:M457V	ENSP00000367300:M457V	M	-	1	0	ZNF425	148432527	0.001000	0.12720	0.007000	0.13788	0.913000	0.54294	0.052000	0.14163	-0.012000	0.14223	0.533000	0.62120	ATG	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352726.1		-	ENST00000378061.2	Missense_Mutation	SNP	7 : 148801594 - 148801594 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	372	68
GPR98	84059	broad.mit.edu	37	5	90020790	90020790	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:90020790T>G	ENST00000405460.2	+	46	9986	c.9890T>G	c.(9889-9891)aTt>aGt	p.I3297S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3297					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGCAGGGGATTTTTATTCCA	0.284		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	5		NA											NA				90020790		1785	4056	5841	SO:0001583	missense			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199	84059	84059		-, GPCR / Class B : Orphans	17416	protein-coding gene	gene with protein product		602851	monogenic, audiogenic seizure susceptibility 1 homolog (mouse)	USH2C, MASS1	NA	10976914, 14740321	Standard	NM_032119	NM_032119	NA	Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.9890T>G	5.37:g.90020790T>G	ENSP00000384582:p.Ile3297Ser	NA	O75171|Q8TF58|Q9H0X5|Q9UL61	37	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.88|13.88	2.370527|2.370527	0.42003|0.42003	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000509621|ENST00000405460;ENST00000296619	.|T	.|0.26518	.|1.73	5.51|5.51	4.36|4.36	0.52297|0.52297	.|.	.|0.449501	.|0.25154	.|N	.|0.032734	T|T	0.24851|0.24851	0.0603|0.0603	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	.|B;B	.|0.28128	.|0.049;0.201	.|B;B	.|0.18871	.|0.016;0.023	T|T	0.03818|0.03818	-1.1001|-1.1001	5|10	.|0.66056	.|D	.|0.02	.|.	10.582|10.582	0.45261|0.45261	0.0:0.0767:0.0:0.9233|0.0:0.0767:0.0:0.9233	.|.	.|3297;3297	.|E7ETI5;Q8WXG9	.|.;GPR98_HUMAN	V|S	863|3297	.|ENSP00000384582:I3297S	.|ENSP00000296619:I3297S	F|I	+|+	1|2	0|0	GPR98|GPR98	90056546|90056546	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.995000|0.995000	0.86356|0.86356	2.691000|2.691000	0.47010|0.47010	0.940000|0.940000	0.37473|0.37473	0.455000|0.455000	0.32223|0.32223	TTT|ATT	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369993.2		+	ENST00000405460.2	Missense_Mutation	SNP	5 : 90020790 - 90020790 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	214	32
CD3E	916	broad.mit.edu	37	11	118179150	118179150	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118179150G>T	ENST00000361763.4	+	4	370	c.79G>T	c.(79-81)Gaa>Taa	p.E27*	CD3E_ENST00000528600.1_Nonsense_Mutation_p.E27*	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN	CD3e molecule, epsilon (CD3-TCR complex)	27					G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	AGGTAATGAAGAAATGGGTAA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	66	71			NA	NA	11		NA											NA				118179150		2192	4293	6485	SO:0001587	stop_gained			X03884	CCDS31685.1	11q23	2014-09-17	2006-03-28		ENSG00000198851	ENSG00000198851	916	916		CD molecules	1674	protein-coding gene	gene with protein product		186830	CD3e antigen, epsilon polypeptide (TiT3 complex)		NA		Standard	NM_000733	NM_000733	NA	Approved		uc001psq.4	P07766	OTTHUMG00000166968	ENST00000361763.4:c.79G>T	11.37:g.118179150G>T	ENSP00000354566:p.Glu27*	NA	A8K997	37	CCDS31685.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135106	0.56828	.	.	ENSG00000198851	ENST00000361763;ENST00000528600	.	.	.	4.19	0.081	0.14423	.	3.197390	0.00919	N	0.002561	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	4.1578	0.10270	0.2967:0.1715:0.5318:0.0	.	.	.	.	X	27	.	ENSP00000354566:E27X	E	+	1	0	CD3E	117684360	0.000000	0.05858	0.000000	0.03702	0.415000	0.31203	-1.268000	0.02836	0.027000	0.15297	0.561000	0.74099	GAA	CD3E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392120.1		+	ENST00000361763.4	Nonsense_Mutation	SNP	11 : 118179150 - 118179150 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	37	5
FAM46D	169966	broad.mit.edu	37	X	79699097	79699097	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79699097G>A	ENST00000308293.5	+	3	1298	c.1059G>A	c.(1057-1059)ccG>ccA	p.P353P	FAM46D_ENST00000538312.1_Silent_p.P353P	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	353										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						AGCCTGCTCCGTACTTTGCAG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	64	67			NA	NA	X		NA											NA				79699097		2203	4298	6501	SO:0001819	synonymous_variant			BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016	169966	169966			28399	protein-coding gene	gene with protein product	cancer/testis antigen 112				NA	12477932	Standard	NM_152630	NM_152630	NA	Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.1059G>A	X.37:g.79699097G>A		NA	Q7Z3F6|Q8NHU1	37	CCDS14446.1																																																																																			FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057338.1		+	ENST00000308293.5	Silent	SNP	X : 79699097 - 79699097 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	214	59
C9orf84	158401	broad.mit.edu	37	9	114454094	114454094	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114454094G>T	ENST00000394777.4	-	22	3993	c.3749C>A	c.(3748-3750)tCt>tAt	p.S1250Y	C9orf84_ENST00000374287.3_Missense_Mutation_p.S1324Y|C9orf84_ENST00000394779.3_Missense_Mutation_p.S1285Y|C9orf84_ENST00000318737.4_Missense_Mutation_p.S1324Y			Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1324										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ACCTTTCTGAGAGTACAATTT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	76	75			NA	NA	9		NA											NA				114454094		2203	4300	6503	SO:0001583	missense			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181	158401	158401			26535	protein-coding gene	gene with protein product					NA		Standard	NM_173521	XM_005251738	NA	Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000394777.4:c.3749C>A	9.37:g.114454094G>T	ENSP00000378257:p.Ser1250Tyr	NA	Q2M1H8|Q96M73	37		.	.	.	.	.	.	.	.	.	.	G	11.91	1.778618	0.31502	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.10573	2.86;2.92;2.88;2.88	5.29	4.39	0.52855	.	0.267845	0.27080	N	0.021025	T	0.15912	0.0383	L	0.32530	0.975	0.09310	N	0.999997	D;D;D	0.59767	0.986;0.986;0.986	P;P;P	0.57720	0.826;0.826;0.826	T	0.03739	-1.1008	10	0.87932	D	0	-5.3437	7.8994	0.29725	0.1807:0.0:0.8193:0.0	.	1250;1324;1285	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	Y	1285;1250;938;1324;1324	ENSP00000378259:S1285Y;ENSP00000378257:S1250Y;ENSP00000363405:S1324Y;ENSP00000322108:S1324Y	ENSP00000322108:S1324Y	S	-	2	0	C9orf84	113493915	1.000000	0.71417	0.434000	0.26772	0.393000	0.30537	1.863000	0.39459	1.457000	0.47850	0.467000	0.42956	TCT	C9orf84-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000316570.1		-	ENST00000394777.4	Missense_Mutation	SNP	9 : 114454094 - 114454094 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	391	29
PKD2L1	9033	broad.mit.edu	37	10	102056007	102056007	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102056007C>T	ENST00000318222.3	-	7	1610	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	PKD2L1_ENST00000338519.3_Missense_Mutation_p.E335K|PKD2L1_ENST00000353274.3_Missense_Mutation_p.E410K	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	410					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CGATTCACCTCGAGGGTTCGG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	74	77			NA	NA	10		NA											NA				102056007		2203	4300	6503	SO:0001583	missense			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593	9033	9033		Voltage-gated ion channels / Transient receptor potential cation channels	9011	protein-coding gene	gene with protein product	transient receptor potential cation channel, subfamily P, member 3	604532		PKD2L, PKDL	NA	9878261, 9748274	Standard	NM_016112	NM_016112	NA	Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1228G>A	10.37:g.102056007C>T	ENSP00000325296:p.Glu410Lys	NA	O75972|Q5W039|Q9UP35|Q9UPA2	37	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.458255	0.43634	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.69926	-0.44;-0.44;-0.44	5.8	4.9	0.64082	Polycystin cation channel, PKD1/PKD2 (1);	0.096556	0.64402	N	0.000001	T	0.47637	0.1456	N	0.12443	0.215	0.36847	D	0.887713	B;B	0.28208	0.203;0.111	B;B	0.26416	0.069;0.061	T	0.51252	-0.8729	10	0.23891	T	0.37	-15.2324	13.8093	0.63252	0.0:0.9273:0.0:0.0727	.	363;410	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	K	335;410;410;408	ENSP00000345068:E335K;ENSP00000266049:E410K;ENSP00000325296:E410K	ENSP00000325296:E410K	E	-	1	0	PKD2L1	102045997	1.000000	0.71417	0.927000	0.36925	0.958000	0.62258	4.533000	0.60615	1.476000	0.48215	0.561000	0.74099	GAG	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049863.2		-	ENST00000318222.3	Missense_Mutation	SNP	10 : 102056007 - 102056007 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	259	49
DYNC2H1	79659	broad.mit.edu	37	11	102980404	102980404	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102980404G>A	ENST00000375735.2	+	1	245	c.101G>A	c.(100-102)tGc>tAc	p.C34Y	DYNC2H1_ENST00000334267.7_Missense_Mutation_p.C34Y|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.C34Y	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	34	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CCACTGTTGTGCAACTGTCTT	0.517		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	11		NA											NA				102980404		1971	4168	6139	SO:0001583	missense			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240	79659	79659		Cytoplasmic dyneins	2962	protein-coding gene	gene with protein product		603297	dynein, cytoplasmic, heavy polypeptide 2	DNCH2	NA	9763680, 9373155	Standard	XM_370652	NM_001080463	NA	Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.101G>A	11.37:g.102980404G>A	ENSP00000364887:p.Cys34Tyr	NA	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	0.069	-1.206026	0.01568	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.28454	1.75;1.61;1.75	5.63	-4.3	0.03710	.	0.812540	0.09108	U	0.847418	T	0.07683	0.0193	N	0.01352	-0.895	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.29458	-1.0011	10	0.24483	T	0.36	.	2.6491	0.04993	0.2384:0.257:0.3793:0.1253	.	34;34;34	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	Y	34	ENSP00000364887:C34Y;ENSP00000334021:C34Y;ENSP00000381167:C34Y	ENSP00000334021:C34Y	C	+	2	0	DYNC2H1	102485614	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.466000	0.06672	-0.402000	0.07633	-1.322000	0.01289	TGC	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387196.1		+	ENST00000375735.2	Missense_Mutation	SNP	11 : 102980404 - 102980404 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	190	31
FANCD2OS	115795	broad.mit.edu	37	3	10146033	10146033	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10146033C>A	ENST00000450660.2	-	2	642	c.426G>T	c.(424-426)gaG>gaT	p.E142D	FANCD2OS_ENST00000524279.1_Missense_Mutation_p.E142D	NM_001164839.1	NP_001158311.1			FANCD2 opposite strand	NA											NA						GAATCTGAGGCTCCTTCAGTC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	135	139			NA	NA	3		NA											NA				10146033		2203	4300	6503	SO:0001583	missense			AF230334	CCDS2596.1	3p25.3	2012-11-12	2012-11-12	2012-11-12	ENSG00000163705	ENSG00000163705	115795	115795			28623	protein-coding gene	gene with protein product			chromosome 3 open reading frame 24	C3orf24	NA	12477932	Standard	NM_173472	NM_001164839	NA	Approved	MGC40179	uc003buz.3	Q96PS1	OTTHUMG00000128669	ENST00000450660.2:c.426G>T	3.37:g.10146033C>A	ENSP00000429608:p.Glu142Asp	NA		37	CCDS2596.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610865	0.46527	.	.	ENSG00000163705	ENST00000524279;ENST00000450660	.	.	.	5.5	1.43	0.22495	.	0.000000	0.64402	D	0.000001	T	0.52677	0.1749	L	0.29908	0.895	0.36691	D	0.879583	D	0.55605	0.972	P	0.59948	0.866	T	0.58940	-0.7547	9	0.87932	D	0	.	9.2381	0.37479	0.0:0.6232:0.0:0.3768	.	142	Q96PS1	CC024_HUMAN	D	142	.	ENSP00000429608:E142D	E	-	3	2	C3orf24	10121033	0.991000	0.36638	0.999000	0.59377	0.993000	0.82548	0.140000	0.16056	0.226000	0.20979	-0.156000	0.13503	GAG	FANCD2OS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339891.2		-	ENST00000450660.2	Missense_Mutation	SNP	3 : 10146033 - 10146033 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	590	29
MTFR1	9650	broad.mit.edu	37	8	66619263	66619263	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:66619263C>T	ENST00000262146.4	+	6	662	c.536C>T	c.(535-537)aCa>aTa	p.T179I	MTFR1_ENST00000458689.2_Missense_Mutation_p.T146I|MTFR1_ENST00000517944.1_3'UTR	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	179						mitochondrion|plasma membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			GATTCTACCACATTTGGTACC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	91	90			NA	NA	8		NA											NA				66619263		2200	4299	6499	SO:0001583	missense				CCDS6182.1, CCDS55240.1	8q13.1	2012-11-30					9650	9650			29510	protein-coding gene	gene with protein product	likely ortholog of chicken chondrocyte protein with a poly proline region				NA	7584026, 7584028, 15389597	Standard	NM_014637	NM_014637	NA	Approved	CHPPR, KIAA0009, FAM54A2	uc003xvn.2	Q15390		ENST00000262146.4:c.536C>T	8.37:g.66619263C>T	ENSP00000262146:p.Thr179Ile	NA	Q6IB94|Q86XH5|Q8IVD7	37	CCDS6182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.00|11.00	1.510237|1.510237	0.27036|0.27036	.|.	.|.	ENSG00000066855|ENSG00000066855	ENST00000518800|ENST00000518609;ENST00000262146;ENST00000458689	.|T;T	.|0.49432	.|0.78;0.78	5.49|5.49	2.42|2.42	0.29668|0.29668	.|.	.|0.976929	.|0.08443	.|N	.|0.945124	T|T	0.37210|0.37210	0.0995|0.0995	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.17465	.|0.022;0.004;0.002;0.005	.|B;B;B;B	.|0.20384	.|0.029;0.014;0.002;0.011	T|T	0.26087|0.26087	-1.0113|-1.0113	5|10	.|0.36615	.|T	.|0.2	0.3655|0.3655	7.3468|7.3468	0.26668|0.26668	0.0:0.5859:0.3241:0.09|0.0:0.5859:0.3241:0.09	.|.	.|179;163;146;179	.|B4E3G8;E5RJS5;E7EP84;Q15390	.|.;.;.;MTFR1_HUMAN	Y|I	137|163;179;146	.|ENSP00000262146:T179I;ENSP00000391502:T146I	.|ENSP00000262146:T179I	H|T	+|+	1|2	0|0	MTFR1|MTFR1	66781817|66781817	0.000000|0.000000	0.05858|0.05858	0.079000|0.079000	0.20413|0.20413	0.650000|0.650000	0.38633|0.38633	0.112000|0.112000	0.15479|0.15479	1.280000|1.280000	0.44463|0.44463	0.650000|0.650000	0.86243|0.86243	CAT|ACA	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378894.1		+	ENST00000262146.4	Missense_Mutation	SNP	8 : 66619263 - 66619263 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	412	31
KRBA1	84626	broad.mit.edu	37	7	149419587	149419587	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149419587C>T	ENST00000485033.2	+	5	541	c.541C>T	c.(541-543)Cat>Tat	p.H181Y	KRBA1_ENST00000255992.10_Missense_Mutation_p.H181Y|KRBA1_ENST00000319551.8_Missense_Mutation_p.H181Y|KRBA1_ENST00000479560.1_3'UTR			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	181										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTCCCACCCATAGCCCCAG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	24	23			NA	NA	7		NA											NA				149419587		1841	4076	5917	SO:0001583	missense			AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619	84626	84626		-	22228	protein-coding gene	gene with protein product			KRAB A domain containing 1		NA		Standard	NM_032534	NM_001290187	NA	Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.541C>T	7.37:g.149419587C>T	ENSP00000420112:p.His181Tyr	NA	A7E2F5|Q8N4X0|Q96JG5	37		.	.	.	.	.	.	.	.	.	.	C	0.141	-1.101931	0.01828	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	T;T;T	0.30182	1.54;1.54;1.54	4.25	-0.873	0.10635	.	1.625990	0.03280	N	0.186087	T	0.14399	0.0348	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13098	-1.0522	10	0.18276	T	0.48	6.4057	3.6635	0.08247	0.1675:0.2221:0.0:0.6104	.	181	A5PL33	KRBA1_HUMAN	Y	181	ENSP00000255992:H181Y;ENSP00000317165:H181Y;ENSP00000420112:H181Y	ENSP00000255992:H181Y	H	+	1	0	KRBA1	149050520	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.720000	0.04969	-0.335000	0.08451	-1.099000	0.02127	CAT	KRBA1-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000349841.3		+	ENST00000485033.2	Missense_Mutation	SNP	7 : 149419587 - 149419587 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	73	15
TOPORS	10210	broad.mit.edu	37	9	32543588	32543588	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32543588C>A	ENST00000360538.2	-	3	1051	c.935G>T	c.(934-936)gGa>gTa	p.G312V	TOPORS_ENST00000379858.1_Missense_Mutation_p.G247V	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	312	Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CACTAAAGATCCATGAGCTCC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	54	54			NA	NA	9		NA											NA				32543588		2203	4300	6503	SO:0001583	missense			AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579	10210	10210		RING-type (C3HC4) zinc fingers	21653	protein-coding gene	gene with protein product		609507	retinitis pigmentosa 31 (autosomal dominant), topoisomerase I binding, arginine/serine-rich	RP31	NA	10352183, 12083797, 17924349	Standard	NM_005802	NM_005802	NA	Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.935G>T	9.37:g.32543588C>A	ENSP00000353735:p.Gly312Val	NA	O43273|Q6P987|Q9NS55|Q9UNR9	37	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127595	0.37533	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.17691	2.26;2.27	5.93	5.93	0.95920	.	0.000000	0.49916	D	0.000133	T	0.43787	0.1263	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.15578	-1.0432	10	0.72032	D	0.01	-38.8045	19.1082	0.93305	0.0:1.0:0.0:0.0	.	312	Q9NS56	TOPRS_HUMAN	V	312;247	ENSP00000353735:G312V;ENSP00000369187:G247V	ENSP00000353735:G312V	G	-	2	0	TOPORS	32533588	1.000000	0.71417	0.996000	0.52242	0.636000	0.38137	4.654000	0.61469	2.805000	0.96524	0.655000	0.94253	GGA	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052007.1		-	ENST00000360538.2	Missense_Mutation	SNP	9 : 32543588 - 32543588 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	377	59
PHF1	5252	broad.mit.edu	37	6	33382062	33382062	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33382062C>T	ENST00000374516.3	+	9	1066	c.795C>T	c.(793-795)tgC>tgT	p.C265C	PHF1_ENST00000374512.3_Silent_p.C265C	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	265					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				TCAGTGTTTGCTGTAAGAAGA	0.468		NA									OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	151	151			NA	NA	6		NA											NA				33382062		2203	4300	6503	SO:0001819	synonymous_variant			AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511	5252	5252		Tudor domain containing, Zinc fingers, PHD-type	8919	protein-coding gene	gene with protein product	tudor domain containing 19C	602881			NA	9545646, 18385154	Standard		NM_024165	NA	Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.795C>T	6.37:g.33382062C>T		839	B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	37	CCDS4777.1																																																																																			PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076175.3		+	ENST00000374516.3	Silent	SNP	6 : 33382062 - 33382062 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	419	82
COCH	1690	broad.mit.edu	37	14	31348032	31348032	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31348032C>T	ENST00000475087.1	+	4	622	c.255C>T	c.(253-255)aaC>aaT	p.N85N	RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000216361.4_Silent_p.N85N|COCH_ENST00000460581.2_5'UTR|COCH_ENST00000396618.3_Silent_p.N85N			O43405	COCH_HUMAN	cochlin	85	LCCL.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TAATCAGCAACTCAGGGGGAC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	91	95			NA	NA	14		NA											NA				31348032		2203	4300	6503	SO:0001819	synonymous_variant				CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473	1690	1690			2180	protein-coding gene	gene with protein product		603196	coagulation factor C (Limulus polyphemus homolog); cochlin, coagulation factor C homolog, cochlin (Limulus polyphemus)	DFNA31, DFNA9	NA	9806553	Standard	NM_004086	NM_004086	NA	Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000475087.1:c.255C>T	14.37:g.31348032C>T		NA	A8K9K9|D3DS84	37																																																																																				COCH-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000073363.2		+	ENST00000475087.1	Silent	SNP	14 : 31348032 - 31348032 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	49
DCHS1	8642	broad.mit.edu	37	11	6651110	6651110	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6651110C>T	ENST00000299441.3	-	11	5239	c.4828G>A	c.(4828-4830)Gaa>Aaa	p.E1610K		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1610	Cadherin 15.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTCGTTGTTCGCGGTCCAAC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	46	46			NA	NA	11		NA											NA				6651110		2201	4296	6497	SO:0001583	missense			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341	8642	8642		Cadherins / Cadherin-related	13681	protein-coding gene	gene with protein product	cadherin-related family member 6	603057	protocadherin 16, dachsous 1 (Drosophila)	CDH25, PCDH16	NA	9199196	Standard	NM_003737	XM_005253207	NA	Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.4828G>A	11.37:g.6651110C>T	ENSP00000299441:p.Glu1610Lys	NA	O15098	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338642	0.81911	.	.	ENSG00000166341	ENST00000299441	T	0.72394	-0.65	5.1	5.1	0.69264	Cadherin (4);Cadherin-like (1);	0.000000	0.48767	D	0.000161	D	0.88654	0.6495	H	0.94183	3.505	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91215	0.5002	10	0.62326	D	0.03	.	17.6847	0.88253	0.0:1.0:0.0:0.0	.	1610	Q96JQ0	PCD16_HUMAN	K	1610	ENSP00000299441:E1610K	ENSP00000299441:E1610K	E	-	1	0	DCHS1	6607686	1.000000	0.71417	0.778000	0.31720	0.149000	0.21700	5.937000	0.70162	2.668000	0.90789	0.563000	0.77884	GAA	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257258.1		-	ENST00000299441.3	Missense_Mutation	SNP	11 : 6651110 - 6651110 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	398	83
ATRNL1	26033	broad.mit.edu	37	10	117093850	117093850	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:117093850A>C	ENST00000355044.3	+	19	3222	c.3096A>C	c.(3094-3096)aaA>aaC	p.K1032N	ATRNL1_ENST00000423111.2_Intron|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1032	Laminin EGF-like 1.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AACAGTGTAAAAATCTCACCA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	117	123			NA	NA	10		NA											NA				117093850		2203	4300	6503	SO:0001583	missense			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518	26033	26033			29063	protein-coding gene	gene with protein product		612869			NA	9628581	Standard	XM_049349	NM_001276282	NA	Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3096A>C	10.37:g.117093850A>C	ENSP00000347152:p.Lys1032Asn	NA	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	37	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	A	12.51	1.960285	0.34565	.	.	ENSG00000107518	ENST00000355044	T	0.64260	-0.09	5.45	4.32	0.51571	EGF-like, laminin (3);	0.047709	0.85682	D	0.000000	T	0.50120	0.1597	L	0.47078	1.49	0.80722	D	1	B	0.23650	0.089	B	0.19391	0.025	T	0.38929	-0.9638	10	0.21540	T	0.41	-18.1281	8.1716	0.31258	0.8428:0.0:0.1572:0.0	.	1032	Q5VV63	ATRN1_HUMAN	N	1032	ENSP00000347152:K1032N	ENSP00000347152:K1032N	K	+	3	2	ATRNL1	117083840	0.974000	0.33945	1.000000	0.80357	0.998000	0.95712	0.325000	0.19628	1.014000	0.39417	0.482000	0.46254	AAA	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050507.3		+	ENST00000355044.3	Missense_Mutation	SNP	10 : 117093850 - 117093850 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	9
PAPPA	5069	broad.mit.edu	37	9	119158837	119158837	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119158837G>A	ENST00000328252.3	+	22	5195	c.4826G>A	c.(4825-4827)cGg>cAg	p.R1609Q	PAPPA_ENST00000483254.1_3'UTR|PAPPA_ENST00000534838.1_Missense_Mutation_p.R647Q	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1609					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTGCTTGTCGGGACCCCCAG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	159	164			NA	NA	9		NA											NA				119158837		2203	4300	6503	SO:0001583	missense				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752	5069	5069			8602	protein-coding gene	gene with protein product	insulin-like growth factor-dependent IGF binding protein-4 protease, aspecific BCL2 ARE-binding protein 2, differentially placenta 1 expressed protein	176385			NA	7679961	Standard	NM_002581	NM_002581	NA	Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.4826G>A	9.37:g.119158837G>A	ENSP00000330658:p.Arg1609Gln	NA	B1AMF9|Q08371|Q68G52|Q9UDK7	37	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260667	0.59431	.	.	ENSG00000182752	ENST00000328252;ENST00000534838	T;T	0.04156	4.48;3.69	5.61	4.7	0.59300	.	0.117087	0.64402	D	0.000014	T	0.10465	0.0256	L	0.55990	1.75	0.42726	D	0.993692	P;D	0.65815	0.948;0.995	B;P	0.50352	0.34;0.638	T	0.02031	-1.1226	10	0.66056	D	0.02	-14.1668	12.96	0.58453	0.0:0.0:0.7077:0.2923	.	647;1609	F5GZ19;Q13219	.;PAPP1_HUMAN	Q	1609;647	ENSP00000330658:R1609Q;ENSP00000441461:R647Q	ENSP00000330658:R1609Q	R	+	2	0	PAPPA	118198658	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.218000	0.42889	1.357000	0.45904	0.491000	0.48974	CGG	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055546.1		+	ENST00000328252.3	Missense_Mutation	SNP	9 : 119158837 - 119158837 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	884	135
STOX2	56977	broad.mit.edu	37	4	184930594	184930594	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184930594C>T	ENST00000308497.4	+	3	2038	c.603C>T	c.(601-603)tgC>tgT	p.C201C	STOX2_ENST00000438269.1_Silent_p.C201C	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	201					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CTTGCCACTGCTGCAGAGAAG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	86	85			NA	NA	4		NA											NA				184930594		2139	4241	6380	SO:0001819	synonymous_variant			AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320	56977	56977			25450	protein-coding gene	gene with protein product					NA		Standard	NM_020225	XM_005263142	NA	Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.603C>T	4.37:g.184930594C>T		NA	A6H8U4|Q9NPS8	37	CCDS47167.1																																																																																			STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361433.3		+	ENST00000308497.4	Silent	SNP	4 : 184930594 - 184930594 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	391	29
CHRM3	1131	broad.mit.edu	37	1	240070919	240070919	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240070919C>T	ENST00000255380.4	+	5	947	c.168C>T	c.(166-168)acC>acT	p.T56T		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	56					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.T56T(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	ACGGTACCACCGATGACCCTC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	endometrium(1)											106	99	101			NA	NA	1		NA											NA				240070919		2203	4300	6503	SO:0001819	synonymous_variant			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019	1131	1131		Cholinergic receptors, GPCR / Class A : Cholinergic receptors, muscarinic	1952	protein-coding gene	gene with protein product	acetylcholine receptor, muscarinic 3	118494			NA		Standard	NM_000740	XM_005273032	NA	Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.168C>T	1.37:g.240070919C>T		NA	Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	37	CCDS1616.1																																																																																			CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095644.2		+	ENST00000255380.4	Silent	SNP	1 : 240070919 - 240070919 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	566	131
EPHB2	2048	broad.mit.edu	37	1	23191452	23191452	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23191452C>T	ENST00000400191.3	+	5	1068	c.1050C>T	c.(1048-1050)tcC>tcT	p.S350S	EPHB2_ENST00000544305.1_Silent_p.S350S|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Silent_p.S344S|EPHB2_ENST00000374630.3_Silent_p.S350S|EPHB2_ENST00000374632.3_Silent_p.S350S	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	350	Fibronectin type-III 1.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCCGCGACTCCGGAGGCCGAG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	72	70			NA	NA	1		NA											NA				23191452		2203	4300	6503	SO:0001819	synonymous_variant			AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2048	2048	2.7.10.1	EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3393	protein-coding gene	gene with protein product		600997	EphB2	DRT, ERK, EPHT3	NA	1648701	Standard	NM_017449	NM_017449	NA	Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.1050C>T	1.37:g.23191452C>T		NA	O43477|Q5T0U6|Q5T0U7|Q5T0U8	37																																																																																				EPHB2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000008060.2		+	ENST00000400191.3	Silent	SNP	1 : 23191452 - 23191452 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	931	74
GPR3	2827	broad.mit.edu	37	1	27721074	27721074	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27721074G>A	ENST00000374024.3	+	2	871	c.772G>A	c.(772-774)Gcc>Acc	p.A258T		NM_005281.3	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	258					activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane				endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		AGCCTTTGCCGCCTGCTGGTT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													189	149	162			NA	NA	1		NA											NA				27721074		2203	4300	6503	SO:0001583	missense			BC032702	CCDS303.1	1p36.1-p35	2012-08-21			ENSG00000181773	ENSG00000181773	2827	2827		GPCR / Class A : Orphans	4484	protein-coding gene	gene with protein product		600241			NA	7851889	Standard	NM_005281	NM_005281	NA	Approved	ACCA	uc001bod.4	P46089	OTTHUMG00000003397	ENST00000374024.3:c.772G>A	1.37:g.27721074G>A	ENSP00000363136:p.Ala258Thr	NA	A8K570	37	CCDS303.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464925	0.43839	.	.	ENSG00000181773	ENST00000374024	T	0.37752	1.18	5.91	4.99	0.66335	GPCR, rhodopsin-like superfamily (1);	0.213027	0.40728	N	0.001024	T	0.33789	0.0875	M	0.72894	2.215	0.37667	D	0.923006	B	0.30439	0.279	B	0.23150	0.044	T	0.33954	-0.9848	10	0.44086	T	0.13	.	8.9616	0.35851	0.0761:0.0:0.7367:0.1872	.	258	P46089	GPR3_HUMAN	T	258	ENSP00000363136:A258T	ENSP00000363136:A258T	A	+	1	0	GPR3	27593661	0.993000	0.37304	0.980000	0.43619	0.990000	0.78478	2.228000	0.42981	2.804000	0.96469	0.462000	0.41574	GCC	GPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000009522.1		+	ENST00000374024.3	Missense_Mutation	SNP	1 : 27721074 - 27721074 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	79
COL1A1	1277	broad.mit.edu	37	17	48264045	48264045	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48264045C>T	ENST00000225964.5	-	48	3888	c.3770G>A	c.(3769-3771)cGc>cAc	p.R1257H		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1257	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	ACGGCAGGTGCGGGCGGGGTT	0.647		NA	T	PDGFB, USP6	dermatofibrosarcoma protuberans, aneurysmal bone cyst 		Osteogenesis imperfecta							NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		17	17q21.31-q22	1277	collagen, type I, alpha 1	yes	M	0													68	79	75			NA	NA	17		NA											NA				48264045		2203	4300	6503	SO:0001583	missense			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821	1277	1277		Collagens	2197	protein-coding gene	gene with protein product		120150			NA	3178743, 2857713	Standard		NM_000088	NA	Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.3770G>A	17.37:g.48264045C>T	ENSP00000225964:p.Arg1257His	NA	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	37	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.754969	0.69648	.	.	ENSG00000108821	ENST00000225964	T	0.79352	-1.26	3.93	3.93	0.45458	Fibrillar collagen, C-terminal (3);	0.000000	0.64402	U	0.000001	D	0.93096	0.7802	H	0.99475	4.585	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.95957	0.8959	10	0.87932	D	0	.	14.8661	0.70416	0.0:1.0:0.0:0.0	.	1257	P02452	CO1A1_HUMAN	H	1257	ENSP00000225964:R1257H	ENSP00000225964:R1257H	R	-	2	0	COL1A1	45619044	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.508000	0.81686	2.005000	0.58758	0.313000	0.20887	CGC	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000309036.2		-	ENST00000225964.5	Missense_Mutation	SNP	17 : 48264045 - 48264045 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	880	38
EEA1	8411	broad.mit.edu	37	12	93226446	93226446	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:93226446C>T	ENST00000322349.8	-	11	1360	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	366					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TCACTTAGTTCTACATGTATT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	141	144			NA	NA	12		NA											NA				93226446		2203	4300	6503	SO:0001583	missense			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189	8411	8411		Zinc fingers, FYVE domain containing	3185	protein-coding gene	gene with protein product		605070	early endosome antigen 1, 162kD		NA	7768953, 9697774	Standard	NM_003566	NM_003566	NA	Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.1096G>A	12.37:g.93226446C>T	ENSP00000317955:p.Glu366Lys	NA	Q14221	37	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.756161	0.69648	.	.	ENSG00000102189	ENST00000322349	T	0.69685	-0.42	5.52	5.52	0.82312	.	0.000000	0.53938	D	0.000049	T	0.74921	0.3780	L	0.34521	1.04	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.73538	-0.3951	10	0.39692	T	0.17	.	19.4513	0.94869	0.0:1.0:0.0:0.0	.	366	Q15075	EEA1_HUMAN	K	366	ENSP00000317955:E366K	ENSP00000317955:E366K	E	-	1	0	EEA1	91750577	1.000000	0.71417	0.992000	0.48379	0.026000	0.11368	6.625000	0.74248	2.577000	0.86979	0.655000	0.94253	GAA	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407304.1		-	ENST00000322349.8	Missense_Mutation	SNP	12 : 93226446 - 93226446 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	620	102
LTF	4057	broad.mit.edu	37	3	46488808	46488808	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46488808C>T	ENST00000417439.1	-	10	1288	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K	LTF_ENST00000231751.4_Missense_Mutation_p.E432K|LTF_ENST00000426532.2_Missense_Mutation_p.E388K			P02788	TRFL_HUMAN	lactotransferrin	432	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	CTGTAGTTCTCTGCCAGGACA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													220	187	198			NA	NA	3		NA											NA				46488808		2203	4296	6499	SO:0001583	missense				CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223	4057	4057			6720	protein-coding gene	gene with protein product		150210			NA	17476971, 3356163	Standard	NM_002343	NM_001199149	NA	Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000417439.1:c.1288G>A	3.37:g.46488808C>T	ENSP00000405546:p.Glu430Lys	NA	O00756|Q16780|Q16785|Q16786|Q16789|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	37		.	.	.	.	.	.	.	.	.	.	C	28.9	4.963350	0.92791	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	4.76	4.76	0.60689	.	0.138561	0.64402	D	0.000004	T	0.79604	0.4474	H	0.97340	3.985	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	D	0.86696	0.1926	10	0.87932	D	0	-21.1836	15.6781	0.77344	0.0:1.0:0.0:0.0	.	430;419;432	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	K	432;388;430;419	ENSP00000231751:E432K;ENSP00000405719:E388K;ENSP00000405546:E430K;ENSP00000397427:E419K	ENSP00000231751:E432K	E	-	1	0	LTF	46463812	1.000000	0.71417	0.955000	0.39395	0.988000	0.76386	6.634000	0.74290	2.646000	0.89796	0.563000	0.77884	GAG	LTF-003	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000343953.1		-	ENST00000417439.1	Missense_Mutation	SNP	3 : 46488808 - 46488808 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	670	108
SLC24A1	9187	broad.mit.edu	37	15	65918300	65918300	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65918300C>A	ENST00000399033.4	+	1	1964	c.1882C>A	c.(1882-1884)Ctc>Atc	p.L628I	SLC24A1_ENST00000339868.6_Missense_Mutation_p.L628I|SLC24A1_ENST00000544319.2_Missense_Mutation_p.L628I|SLC24A1_ENST00000537259.1_Missense_Mutation_p.L628I|SLC24A1_ENST00000261892.6_Missense_Mutation_p.L628I|SLC24A1_ENST00000546330.1_Missense_Mutation_p.L628I			O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	628					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTTAGAAGACCTCAGCAAGGT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	79	80			NA	NA	15		NA											NA				65918300		2017	4184	6201	SO:0001583	missense			AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621	9187	9187		Solute carriers	10975	protein-coding gene	gene with protein product		603617			NA	9856482	Standard	NM_004727	NM_004727	NA	Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000399033.4:c.1882C>A	15.37:g.65918300C>A	ENSP00000381991:p.Leu628Ile	NA	O43485|O75184	37		.	.	.	.	.	.	.	.	.	.	C	15.86	2.957923	0.53400	.	.	ENSG00000074621	ENST00000537259;ENST00000261892;ENST00000339868;ENST00000544319;ENST00000399033;ENST00000546330	T;T;T;T;T;T	0.69306	0.01;-0.37;-0.21;0.11;-0.39;-0.21	5.53	1.53	0.23141	.	0.867616	0.10298	N	0.691508	T	0.65354	0.2683	M	0.73598	2.24	0.21386	N	0.999701	P;B;B;P;P	0.46912	0.583;0.447;0.447;0.886;0.885	B;B;B;B;B	0.44163	0.14;0.066;0.066;0.425;0.443	T	0.53337	-0.8453	10	0.38643	T	0.18	.	6.1408	0.20259	0.1316:0.6591:0.0:0.2094	.	628;628;628;628;628	O60721-2;Q17RM9;O60721;F5H127;B4E1W0	.;.;NCKX1_HUMAN;.;.	I	628	ENSP00000439693:L628I;ENSP00000261892:L628I;ENSP00000341837:L628I;ENSP00000445163:L628I;ENSP00000381991:L628I;ENSP00000439190:L628I	ENSP00000261892:L628I	L	+	1	0	SLC24A1	63705354	0.989000	0.36119	0.744000	0.31058	0.611000	0.37282	0.712000	0.25779	0.137000	0.18759	0.655000	0.94253	CTC	SLC24A1-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000397356.1		+	ENST00000399033.4	Missense_Mutation	SNP	15 : 65918300 - 65918300 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	79
FSTL5	56884	broad.mit.edu	37	4	162307033	162307033	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:162307033C>T	ENST00000306100.5	-	16	2846	c.2410G>A	c.(2410-2412)Ggc>Agc	p.G804S	FSTL5_ENST00000427802.2_Missense_Mutation_p.G794S|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Missense_Mutation_p.G803S|FSTL5_ENST00000536695.1_Missense_Mutation_p.G803S	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	804						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CCAAACAAGCCACTGTCCTGG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													209	191	197			NA	NA	4		NA											NA				162307033		2203	4300	6503	SO:0001583	missense			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843	56884	56884		EF-hand domain containing, Immunoglobulin superfamily / I-set domain containing	21386	protein-coding gene	gene with protein product					NA	10574462, 15527507	Standard	NM_020116	NM_020116	NA	Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.2410G>A	4.37:g.162307033C>T	ENSP00000305334:p.Gly804Ser	NA	Q9NSW7|Q9ULF7	37	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930608	0.92389	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	5.73	5.73	0.89815	.	0.044902	0.85682	N	0.000000	T	0.54287	0.1849	M	0.74467	2.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.55198	-0.8178	10	0.72032	D	0.01	.	18.8882	0.92388	0.0:1.0:0.0:0.0	.	794;803;804	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	S	804;803;794;803	ENSP00000305334:G804S;ENSP00000368462:G803S;ENSP00000389270:G794S;ENSP00000440409:G803S	ENSP00000305334:G804S	G	-	1	0	FSTL5	162526483	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.464000	0.80887	2.700000	0.92200	0.655000	0.94253	GGC	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364773.2		-	ENST00000306100.5	Missense_Mutation	SNP	4 : 162307033 - 162307033 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	886	165
NLRC5	84166	broad.mit.edu	37	16	57077468	57077468	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57077468T>C	ENST00000262510.6	+	20	3380	c.3155T>C	c.(3154-3156)tTg>tCg	p.L1052S	NLRC5_ENST00000308149.7_Missense_Mutation_p.L1052S|NLRC5_ENST00000539144.1_Missense_Mutation_p.L1052S|NLRC5_ENST00000436936.1_Missense_Mutation_p.L1052S	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1052					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GTGTTGGGTTTGGTTCGGTGC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													437	319	359			NA	NA	16		NA											NA				57077468		2198	4300	6498	SO:0001583	missense			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853	84166	84166		Nucleotide-binding domain and leucine rich repeat containing	29933	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5, NOD-like receptor C5	613537			NA	12615073	Standard	NM_032206	NM_032206	NA	Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3155T>C	16.37:g.57077468T>C	ENSP00000262510:p.Leu1052Ser	NA	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	37	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	T	15.55	2.867533	0.51588	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030	T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	4.29	4.29	0.51040	.	0.000000	0.27469	N	0.019238	D	0.83087	0.5178	M	0.83118	2.625	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.74595	-0.3613	10	0.87932	D	0	.	10.0221	0.42048	0.0:0.0:0.0:1.0	.	1052;1052;1052;1052	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.;.;.;NLRC5_HUMAN	S	1052;1052;1052;526;1052;559;351	ENSP00000262510:L1052S;ENSP00000308886:L1052S;ENSP00000389739:L1052S;ENSP00000441727:L1052S;ENSP00000441597:L559S;ENSP00000440153:L351S	ENSP00000262510:L1052S	L	+	2	0	NLRC5	55634969	0.106000	0.21978	0.093000	0.20910	0.004000	0.04260	1.686000	0.37669	1.941000	0.56285	0.460000	0.39030	TTG	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257346.1		+	ENST00000262510.6	Missense_Mutation	SNP	16 : 57077468 - 57077468 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1699	324
PITPNM2	57605	broad.mit.edu	37	12	123494407	123494407	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123494407G>A	ENST00000280562.5	-	5	838	c.633C>T	c.(631-633)atC>atT	p.I211I	PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000320201.4_Silent_p.I211I|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000546049.1_Silent_p.I211I|PITPNM2_ENST00000542749.1_Silent_p.I211I			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	211					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CGGTGTCGTGGATGAACCTCT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	151	160			NA	NA	12		NA											NA				123494407		2203	4300	6503	SO:0001819	synonymous_variant			AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975	57605	57605			21044	protein-coding gene	gene with protein product		608920			NA	10022914	Standard	NM_020845	XM_005253582	NA	Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000280562.5:c.633C>T	12.37:g.123494407G>A		NA	Q9P271	37																																																																																				PITPNM2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000401341.1		-	ENST00000280562.5	Silent	SNP	12 : 123494407 - 123494407 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	777	132
CTD-3074O7.11	0	broad.mit.edu	37	11	66297358	66297358	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66297358G>T	ENST00000419755.3	+	14	1597	c.1519G>T	c.(1519-1521)Gcc>Tcc	p.A507S	BBS1_ENST00000455748.2_Missense_Mutation_p.A373S|BBS1_ENST00000318312.7_Missense_Mutation_p.A470S|ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000393994.2_Missense_Mutation_p.A341S						NA											NA						CTACCTGCAGGCCCTCGAGTC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	46	54			NA	NA	11		NA											NA				66297358		2200	4295	6495	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000419755.3:c.1519G>T	11.37:g.66297358G>T	ENSP00000398526:p.Ala507Ser	NA		37		.	.	.	.	.	.	.	.	.	.	G	28.2	4.897593	0.91962	.	.	ENSG00000256349;ENSG00000174483;ENSG00000174483;ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000455748;ENST00000393994	D;D;D;D	0.97209	-4.22;-4.29;-4.11;-4.0	4.45	4.45	0.53987	.	.	.	.	.	D	0.97567	0.9203	M	0.64260	1.97	0.80722	D	1	D;D;B;D;D;D	0.67145	0.989;0.986;0.302;0.996;0.996;0.995	P;P;B;P;P;P	0.61940	0.852;0.84;0.162;0.896;0.858;0.814	D	0.97919	1.0313	9	0.59425	D	0.04	.	14.9491	0.71057	0.0:0.0:1.0:0.0	.	145;373;341;358;470;507	B4DH75;E7EQH1;Q32MM9;Q4G0L2;Q8NFJ9;Q8NFJ9-2	.;.;.;.;BBS1_HUMAN;.	S	507;470;373;341	ENSP00000398526:A507S;ENSP00000317469:A470S;ENSP00000405764:A373S;ENSP00000377563:A341S	ENSP00000317469:A470S	A	+	1	0	BBS1;CTD-3074O7.11	66053934	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.100000	0.76989	2.196000	0.70406	0.650000	0.86243	GCC	CTD-3074O7.11-001	KNOWN	basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000395848.2		+	ENST00000419755.3	Missense_Mutation	SNP	11 : 66297358 - 66297358 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	246	51
TSEN54	283989	broad.mit.edu	37	17	73517527	73517527	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73517527G>A	ENST00000333213.6	+	7	595	c.559G>A	c.(559-561)Gat>Aat	p.D187N		NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	187					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTTAACCTGGATGCCAGCGT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	80	84			NA	NA	17		NA											NA				73517527		2203	4300	6503	SO:0001583	missense			AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173	283989	283989		tRNA splicing endonuclease subunits	27561	protein-coding gene	gene with protein product		608755	tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae), tRNA splicing endonuclease 54 homolog (S. cerevisiae)		NA	15109492	Standard	NM_207346	NM_207346	NA	Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.559G>A	17.37:g.73517527G>A	ENSP00000327487:p.Asp187Asn	NA	Q86WV3|Q86XE4|Q8N9H2	37	CCDS11724.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.979469	0.34942	.	.	ENSG00000182173	ENST00000434205;ENST00000333213	T	0.57436	0.4	5.63	3.62	0.41486	.	0.277358	0.40818	N	0.001015	T	0.58235	0.2108	M	0.62723	1.935	0.33845	D	0.631864	D	0.57899	0.981	P	0.51701	0.677	T	0.70317	-0.4905	10	0.51188	T	0.08	-9.0635	11.425	0.50004	0.0682:0.1264:0.8054:0.0	.	187	Q7Z6J9	SEN54_HUMAN	N	86;187	ENSP00000327487:D187N	ENSP00000327487:D187N	D	+	1	0	TSEN54	71029122	1.000000	0.71417	0.985000	0.45067	0.494000	0.33585	3.460000	0.53028	0.723000	0.32274	0.655000	0.94253	GAT	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447618.1		+	ENST00000333213.6	Missense_Mutation	SNP	17 : 73517527 - 73517527 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	402	69
AUTS2	26053	broad.mit.edu	37	7	70239029	70239029	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:70239029G>A	ENST00000342771.4	+	12	2167	c.1846G>A	c.(1846-1848)Gat>Aat	p.D616N	AUTS2_ENST00000406775.2_Intron	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	616										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CAACCCTATCGATGTCGCTGC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	100	109			NA	NA	7		NA											NA				70239029		2203	4300	6503	SO:0001583	missense			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321	26053	26053			14262	protein-coding gene	gene with protein product		607270			NA	12160723	Standard		XM_005250257	NA	Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1846G>A	7.37:g.70239029G>A	ENSP00000344087:p.Asp616Asn	NA	A4D1Y9|Q5D049|Q9Y4F2	37	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463611	0.84425	.	.	ENSG00000158321	ENST00000342771	T	0.35973	1.28	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.47619	0.1455	L	0.52011	1.625	0.80722	D	1	D;D	0.63880	0.966;0.993	P;P	0.52109	0.45;0.69	T	0.15694	-1.0428	9	.	.	.	-21.3555	19.609	0.95594	0.0:0.0:1.0:0.0	.	68;616	B4DLG0;Q8WXX7	.;AUTS2_HUMAN	N	616	ENSP00000344087:D616N	.	D	+	1	0	AUTS2	69876965	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.408000	0.97327	2.882000	0.98803	0.655000	0.94253	GAT	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251971.2		+	ENST00000342771.4	Missense_Mutation	SNP	7 : 70239029 - 70239029 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	271	48
SHCBP1	79801	broad.mit.edu	37	16	46629512	46629512	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:46629512C>T	ENST00000303383.3	-	10	1682	c.1416G>A	c.(1414-1416)cgG>cgA	p.R472R		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	472										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				CTGCTGATGTCCGCACTGTGA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	91	95			NA	NA	16		NA											NA				46629512		2203	4300	6503	SO:0001819	synonymous_variant			AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241	79801	79801			29547	protein-coding gene	gene with protein product		611027			NA	10086341	Standard	NM_024745	NM_024745	NA	Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.1416G>A	16.37:g.46629512C>T		NA	Q96N60|Q9BVS0|Q9H6P6	37	CCDS10720.1																																																																																			SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255740.1		-	ENST00000303383.3	Silent	SNP	16 : 46629512 - 46629512 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	480	56
ATXN7	6314	broad.mit.edu	37	3	63981390	63981390	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:63981390C>T	ENST00000295900.6	+	12	2442	c.1892C>T	c.(1891-1893)gCt>gTt	p.A631V	ATXN7_ENST00000538065.1_Missense_Mutation_p.A631V|ATXN7_ENST00000484332.1_Missense_Mutation_p.A486V|ATXN7_ENST00000398590.3_Missense_Mutation_p.A631V|ATXN7_ENST00000487717.1_Missense_Mutation_p.A631V	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	631					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CAGCCTGCTGCTTCAGGGGCG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													170	178	175			NA	NA	3		NA											NA				63981390		2180	4273	6453	SO:0001583	missense			AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635	6314	6314		Ataxins	10560	protein-coding gene	gene with protein product		607640	spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)	SCA7	NA	7647798, 10598805	Standard	NM_000333	NM_000333	NA	Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.1892C>T	3.37:g.63981390C>T	ENSP00000295900:p.Ala631Val	NA	O75328|O75329|Q9Y6P8	37	CCDS43102.1	.	.	.	.	.	.	.	.	.	.	C	9.750	1.167233	0.21621	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065;ENST00000484332	T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44	5.16	2.8	0.32819	.	0.627928	0.16530	N	0.210399	T	0.13200	0.0320	L	0.39898	1.24	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.22730	-1.0208	10	0.42905	T	0.14	4.3154	6.6831	0.23131	0.0:0.5747:0.2973:0.1279	.	486;631;631	E9PHP9;O15265-2;O15265	.;.;ATX7_HUMAN	V	631;631;631;631;486	ENSP00000381590:A631V;ENSP00000295900:A631V;ENSP00000420234:A631V;ENSP00000439585:A631V;ENSP00000428277:A486V	ENSP00000295900:A631V	A	+	2	0	ATXN7	63956430	0.000000	0.05858	0.000000	0.03702	0.312000	0.27988	1.181000	0.32017	0.304000	0.22809	0.650000	0.86243	GCT	ATXN7-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352070.1		+	ENST00000295900.6	Missense_Mutation	SNP	3 : 63981390 - 63981390 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	572	131
ZNF596	169270	broad.mit.edu	37	8	195764	195764	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:195764C>T	ENST00000398612.1	+	6	1300	c.917C>T	c.(916-918)cCa>cTa	p.P306L	ZNF596_ENST00000308811.4_Missense_Mutation_p.P306L|ZNF596_ENST00000320552.2_Missense_Mutation_p.P236L	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		GGAGATAAACCATATGGATGT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	52	53			NA	NA	8		NA											NA				195764		2203	4300	6503	SO:0001583	missense			BC026190	CCDS5951.2	8p23.3	2013-01-08			ENSG00000172748	ENSG00000172748	169270	169270		Zinc fingers, C2H2-type, -	27268	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_173539	NM_001287256	NA	Approved		uc003wot.3	Q8TC21	OTTHUMG00000086931	ENST00000398612.1:c.917C>T	8.37:g.195764C>T	ENSP00000381613:p.Pro306Leu	NA	B2R8P4|O95015|Q8N9X0	37	CCDS5951.2	.	.	.	.	.	.	.	.	.	.	.	17.40	3.380151	0.61845	.	.	ENSG00000172748	ENST00000308811;ENST00000320552;ENST00000398612	T;T;T	0.27557	1.66;2.3;1.66	2.62	2.62	0.31277	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49372	0.1553	M	0.62209	1.925	0.50632	D	0.999889	D	0.89917	1.0	D	0.97110	1.0	T	0.52320	-0.8591	9	0.62326	D	0.03	.	11.4348	0.50062	0.0:1.0:0.0:0.0	.	306	Q8TC21	ZN596_HUMAN	L	306;236;306	ENSP00000310033:P306L;ENSP00000318719:P236L;ENSP00000381613:P306L	ENSP00000310033:P306L	P	+	2	0	ZNF596	185764	1.000000	0.71417	0.956000	0.39512	0.730000	0.41778	5.821000	0.69257	1.792000	0.52537	0.585000	0.79938	CCA	ZNF596-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195858.4		+	ENST00000398612.1	Missense_Mutation	SNP	8 : 195764 - 195764 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	167	41
ZNF521	25925	broad.mit.edu	37	18	22806342	22806342	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22806342A>C	ENST00000361524.3	-	4	1688	c.1540T>G	c.(1540-1542)Ttt>Gtt	p.F514V	ZNF521_ENST00000538137.2_Missense_Mutation_p.F514V|ZNF521_ENST00000584787.1_Missense_Mutation_p.F294V	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	514					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGGGGACAAAAGAATGCATTA	0.463		NA	T	PAX5	ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													80	83	82			NA	NA	18		NA											NA				22806342		2203	4300	6503	SO:0001583	missense			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795	25925	25925		Zinc fingers, C2H2-type	24605	protein-coding gene	gene with protein product	early hematopoietic zinc finger	610974			NA	11984006, 14630787	Standard	NM_015461	NM_015461	NA	Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1540T>G	18.37:g.22806342A>C	ENSP00000354794:p.Phe514Val	NA	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	37	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	A	10.47	1.359577	0.24598	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.26660	1.72;1.72	5.87	5.87	0.94306	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	L	0.34521	1.04	0.45108	D	0.998123	D	0.89917	1.0	D	0.91635	0.999	T	0.09228	-1.0684	10	0.30854	T	0.27	-22.3299	16.2847	0.82712	1.0:0.0:0.0:0.0	.	514	Q96K83	ZN521_HUMAN	V	514;548;514	ENSP00000354794:F514V;ENSP00000382352:F514V	ENSP00000354794:F514V	F	-	1	0	ZNF521	21060340	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.962000	0.93254	2.242000	0.73789	0.528000	0.53228	TTT	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000446781.2		-	ENST00000361524.3	Missense_Mutation	SNP	18 : 22806342 - 22806342 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	385	75
ZFHX3	463	broad.mit.edu	37	16	72992964	72992964	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72992964C>T	ENST00000268489.5	-	2	1753	c.1081G>A	c.(1081-1083)Gga>Aga	p.G361R	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	361					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AAACTGTGTCCGGGGCCTATG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	68	64			NA	NA	16		NA											NA				72992964		2195	4299	6494	SO:0001583	missense			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836	463	463		Zinc fingers, C2H2-type, Homeoboxes / ZF class	777	protein-coding gene	gene with protein product		104155	AT-binding transcription factor 1	ATBF1	NA	1719379, 7592926	Standard	NM_006885	NM_006885	NA	Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.1081G>A	16.37:g.72992964C>T	ENSP00000268489:p.Gly361Arg	NA	D3DWS8|O15101|Q13719	37	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.316310	0.40996	.	.	ENSG00000140836	ENST00000268489	T	0.74632	-0.86	4.92	4.92	0.64577	.	0.000000	0.47455	D	0.000224	T	0.82001	0.4942	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.82141	-0.0604	10	0.46703	T	0.11	.	18.4761	0.90793	0.0:1.0:0.0:0.0	.	361	Q15911	ZFHX3_HUMAN	R	361	ENSP00000268489:G361R	ENSP00000268489:G361R	G	-	1	0	ZFHX3	71550465	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.398000	0.79919	2.448000	0.82819	0.591000	0.81541	GGA	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269008.1		-	ENST00000268489.5	Missense_Mutation	SNP	16 : 72992964 - 72992964 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	711	182
OR51E2	81285	broad.mit.edu	37	11	4703289	4703289	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4703289A>G	ENST00000396950.3	-	2	892	c.653T>C	c.(652-654)tTt>tCt	p.F218S		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		TATTATCAGAAAATAGGACAA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	83	86			NA	NA	11		NA											NA				4703289		2201	4298	6499	SO:0001583	missense			AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332	81285	81285		GPCR / Class A : Olfactory receptors	15195	protein-coding gene	gene with protein product		611268			NA	11118034	Standard	NM_030774	NM_030774	NA	Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.653T>C	11.37:g.4703289A>G	ENSP00000380153:p.Phe218Ser	NA	B2RA63|Q6IF94	37	CCDS7751.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.960941	0.53400	.	.	ENSG00000167332	ENST00000396950	T	0.00048	8.82	4.97	3.84	0.44239	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000225	T	0.00073	0.0002	N	0.02169	-0.655	0.09310	N	1	P	0.43662	0.814	B	0.41988	0.372	T	0.49835	-0.8897	10	0.54805	T	0.06	.	9.4954	0.38984	0.9156:0.0:0.0844:0.0	.	218	Q9H255	O51E2_HUMAN	S	218	ENSP00000380153:F218S	ENSP00000380153:F218S	F	-	2	0	OR51E2	4659865	0.000000	0.05858	0.905000	0.35620	0.927000	0.56198	1.157000	0.31724	0.919000	0.36945	0.533000	0.62120	TTT	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257198.1		-	ENST00000396950.3	Missense_Mutation	SNP	11 : 4703289 - 4703289 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	352	72
BRD3	8019	broad.mit.edu	37	9	136917482	136917482	+	Silent	SNP	G	G	A	rs61731642	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136917482G>A	ENST00000303407.7	-	3	482	c.297C>T	c.(295-297)agC>agT	p.S99S	BRD3_ENST00000371834.2_Silent_p.S99S|BRD3_ENST00000357885.2_Silent_p.S99S	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	99	Bromo 1.					nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GCATACATTCGCTTGCACTCC	0.373		NA	T	C15orf55	lethal midline carcinoma of young people								G	2	9e-04	0.0041	NA	2184	NA	1	,	,	NA	5e-04	NA	NA	NA	9e-04	1	EXOME	NA	NA	5e-04	SNP			Dom	yes		9	9q34	8019	bromodomain containing 3		E	0								G		11,4395	17.9+/-39.9	0,11,2192	106	108	108		297	-8.7	0	9	dbSNP_129	108	0,8600		0,0,4300	no	coding-synonymous	BRD3	NM_007371.3		0,11,6492	AA,AG,GG	NA	0.0,0.2497,0.0846		99/727	136917482	11,12995	2203	4300	6503	SO:0001819	synonymous_variant				CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925	8019	8019			1104	protein-coding gene	gene with protein product	RING3-like	601541	bromodomain-containing 3		NA	7584044, 8781126	Standard	NM_007371	NM_007371	NA	Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.297C>T	9.37:g.136917482G>A		NA	B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	37	CCDS6980.1																																																																																			BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055390.4		-	ENST00000303407.7	Silent	SNP	9 : 136917482 - 136917482 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	319	33
AXL	558	broad.mit.edu	37	19	41726632	41726632	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41726632G>T	ENST00000301178.4	+	2	367	c.177G>T	c.(175-177)caG>caT	p.Q59H	AXL_ENST00000594880.1_3'UTR|AXL_ENST00000359092.3_Missense_Mutation_p.Q59H	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	59	Ig-like C2-type 1.|Interaction with GAS6.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GTCAGCTCCAGGTTCAGGGAG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	43	44			NA	NA	19		NA											NA				41726632		2203	4300	6503	SO:0001583	missense			M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	558	558	2.7.10.1	Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	905	protein-coding gene	gene with protein product		109135			NA	1656220	Standard		NM_021913	NA	Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.177G>T	19.37:g.41726632G>T	ENSP00000301178:p.Gln59His	NA	Q8N5L2|Q9UD27	37	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931823	0.34096	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.65178	-0.14;-0.14	4.59	1.04	0.20106	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.718192	0.12273	N	0.483641	T	0.48095	0.1481	L	0.49455	1.56	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.06405	0.001;0.002	T	0.44128	-0.9348	10	0.49607	T	0.09	-1.9767	0.835	0.01138	0.2185:0.187:0.4017:0.1928	.	59;59	P30530-2;P30530	.;UFO_HUMAN	H	59	ENSP00000301178:Q59H;ENSP00000351995:Q59H	ENSP00000301178:Q59H	Q	+	3	2	AXL	46418472	0.998000	0.40836	0.959000	0.39883	0.795000	0.44927	1.722000	0.38042	0.544000	0.28883	0.386000	0.25728	CAG	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463323.2		+	ENST00000301178.4	Missense_Mutation	SNP	19 : 41726632 - 41726632 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	164	28
MYO9A	4649	broad.mit.edu	37	15	72208782	72208782	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72208782C>T	ENST00000564571.1	-	19	2773	c.2614G>A	c.(2614-2616)Gat>Aat	p.D872N	MYO9A_ENST00000356056.5_Missense_Mutation_p.D872N|MYO9A_ENST00000424560.1_Missense_Mutation_p.D872N|MYO9A_ENST00000566885.1_Missense_Mutation_p.D492N|MYO9A_ENST00000444904.1_Missense_Mutation_p.D853N|MYO9A_ENST00000563542.1_5'UTR			B2RTY4	MYO9A_HUMAN	myosin IXA	872					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTAATGCGATCTTGTAGTGTC	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	101	100			NA	NA	15		NA											NA				72208782		2199	4297	6496	SO:0001583	missense			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933	4649	4649		Myosins / Myosin superfamily : Class IX	7608	protein-coding gene	gene with protein product		604875			NA	10409426	Standard	NM_006901	NM_006901	NA	Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000564571.1:c.2614G>A	15.37:g.72208782C>T	ENSP00000456192:p.Asp872Asn	NA	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	37		.	.	.	.	.	.	.	.	.	.	C	34	5.408315	0.96051	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864	T;T;T	0.71698	-0.59;-0.59;-0.59	5.24	5.24	0.73138	Myosin head, motor domain (1);	.	.	.	.	T	0.77157	0.4089	L	0.35414	1.06	0.80722	D	1	D;D;P	0.89917	1.0;0.957;0.943	D;P;P	0.91635	0.999;0.781;0.896	T	0.73736	-0.3889	9	0.30078	T	0.28	.	17.7426	0.88411	0.0:1.0:0.0:0.0	.	853;853;872	B2RTY4-2;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	N	872;872;853;853	ENSP00000348349:D872N;ENSP00000399162:D872N;ENSP00000398250:D853N	ENSP00000261864:D853N	D	-	1	0	MYO9A	69995836	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	7.240000	0.78192	2.709000	0.92574	0.655000	0.94253	GAT	MYO9A-015	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000420905.1		-	ENST00000564571.1	Missense_Mutation	SNP	15 : 72208782 - 72208782 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	73
DPF1	8193	broad.mit.edu	37	19	38709239	38709239	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38709239T>G	ENST00000416611.1	-	5	616	c.493A>C	c.(493-495)Agg>Cgg	p.R165R	DPF1_ENST00000456296.1_Silent_p.R165R|DPF1_ENST00000355526.4_Silent_p.R191R|DPF1_ENST00000420980.2_Silent_p.R191R|DPF1_ENST00000412732.1_Silent_p.R109R|DPF1_ENST00000414789.1_Silent_p.R109R			Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	191					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TTCTTCCTCCTGGGAATGTCA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													182	122	142			NA	NA	19		NA											NA				38709239		2203	4300	6503	SO:0001819	synonymous_variant			U43843	CCDS33008.2, CCDS46064.1, CCDS46065.1	19q13.12	2013-01-28			ENSG00000011332	ENSG00000011332	NA	8193		Zinc fingers, PHD-type	20225	protein-coding gene	gene with protein product		601670			NA	8812431	Standard		XM_005259288	NA	Approved	neuro-d4, NEUD4, BAF45b	uc002ohm.3	Q92782	OTTHUMG00000157164	ENST00000416611.1:c.493A>C	19.37:g.38709239T>G		NA	B3KSY8|Q08AJ0	37		.	.	.	.	.	.	.	.	.	.	T	10.13	1.266022	0.23136	.	.	ENSG00000011332	ENST00000355526	.	.	.	3.26	2.11	0.27256	.	.	.	.	.	T	0.56543	0.1992	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53187	-0.8474	4	.	.	.	-5.6764	8.3732	0.32427	0.0:0.0:0.2754:0.7246	.	.	.	.	P	183	.	.	Q	-	2	0	DPF1	43401079	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.946000	0.49050	1.478000	0.48253	0.383000	0.25322	CAG	DPF1-003	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000347723.1		-	ENST00000416611.1	Silent	SNP	19 : 38709239 - 38709239 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	399	59
SCN2A	6326	broad.mit.edu	37	2	166231251	166231251	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166231251T>G	ENST00000375437.2	+	22	4319	c.4029T>G	c.(4027-4029)gtT>gtG	p.V1343V	SCN2A_ENST00000283256.6_Silent_p.V1343V|SCN2A_ENST00000375427.2_Silent_p.V1343V|SCN2A_ENST00000357398.3_Silent_p.V1343V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1343					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TACTTCTGGTTTGTCTGATCT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	153	156			NA	NA	2		NA											NA				166231251		2203	4300	6503	SO:0001819	synonymous_variant			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531	6326	6326		Sodium channels, Voltage-gated ion channels / Sodium channels	10588	protein-coding gene	gene with protein product		182390	sodium channel, voltage-gated, type II, alpha 2 polypeptide, sodium channel, voltage-gated, type II, alpha 1 polypeptide	SCN2A1, SCN2A2	NA	1317301, 16382098	Standard	NM_021007	XM_005246753	NA	Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4029T>G	2.37:g.166231251T>G		NA	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	37	CCDS33314.1																																																																																			SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000102659.2		+	ENST00000375437.2	Silent	SNP	2 : 166231251 - 166231251 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	598	17
KRT83	3889	broad.mit.edu	37	12	52715095	52715095	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52715095C>T	ENST00000293670.3	-	1	87	c.25G>A	c.(25-27)Ggc>Agc	p.G9S		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	9	Head.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AACCCACAGCCTATGGAGTTG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)							NA				0													58	59	58			NA	NA	12		NA											NA				52715095		2199	4298	6497	SO:0001583	missense			X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523	3889	3889		-, Intermediate filaments type II, keratins (basic)	6460	protein-coding gene	gene with protein product	hard keratin type II	602765	keratin, hair, basic, 3	KRTHB3	NA	9084137, 16831889	Standard	NM_002282	NM_002282	NA	Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.25G>A	12.37:g.52715095C>T	ENSP00000293670:p.Gly9Ser	NA	A1A4S9|B2RC21|Q6NT21|Q9NSB3	37	CCDS8823.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.545433	0.00926	.	.	ENSG00000170523	ENST00000293670	D	0.88354	-2.37	3.26	1.37	0.22104	.	.	.	.	.	T	0.68229	0.2978	N	0.04297	-0.235	0.09310	N	1	B	0.11235	0.004	B	0.18263	0.021	T	0.57849	-0.7740	9	0.02654	T	1	.	2.928	0.05791	0.2924:0.4635:0.1483:0.0957	.	9	P78385	KRT83_HUMAN	S	9	ENSP00000293670:G9S	ENSP00000293670:G9S	G	-	1	0	KRT83	51001362	0.000000	0.05858	0.076000	0.20297	0.008000	0.06430	-0.283000	0.08433	0.221000	0.20879	-1.186000	0.01703	GGC	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405182.1		-	ENST00000293670.3	Missense_Mutation	SNP	12 : 52715095 - 52715095 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	657	126
ASPSCR1	79058	broad.mit.edu	37	17	79973230	79973230	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79973230C>T	ENST00000306729.7	+	13	1730	c.1633C>T	c.(1633-1635)Cgg>Tgg	p.R545W	ASPSCR1_ENST00000306739.4_Intron|ASPSCR1_ENST00000580534.1_Intron|ASPSCR1_ENST00000582404.1_3'UTR	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	451							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GGGGACAGGCCGGGTAGGCTG	0.672		NA	T	TFE3	alveolar soft part sarcoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		17	17q25	79058	alveolar soft part sarcoma chromosome region, candidate 1		M	0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696	79058	79058		UBX domain containing	13825	protein-coding gene	gene with protein product	UBX domain protein 9	606236			NA	11244503, 10506710	Standard	NM_024083	NM_024083	NA	Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306729.7:c.1633C>T	17.37:g.79973230C>T	ENSP00000306625:p.Arg545Trp	NA	A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	37	CCDS58611.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.239398	0.22711	.	.	ENSG00000169696	ENST00000306729	T	0.24723	1.84	0.53	-1.06	0.10002	.	5.925570	0.02420	U	0.082463	T	0.42268	0.1195	.	.	.	0.09310	N	0.999999	D	0.76494	0.999	D	0.69307	0.963	T	0.22871	-1.0204	7	.	.	.	.	.	.	.	.	545	Q9BZE9-2	.	W	545	ENSP00000306625:R545W	.	R	+	1	2	ASPSCR1	77566519	0.000000	0.05858	0.011000	0.14972	0.051000	0.14879	-1.076000	0.03420	-1.280000	0.02402	-1.088000	0.02184	CGG	ASPSCR1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000441971.1		+	ENST00000306729.7	Missense_Mutation	SNP	17 : 79973230 - 79973230 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	184	27
RNF214	257160	broad.mit.edu	37	11	117105005	117105005	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117105005T>C	ENST00000530849.1	+	1	27	c.17T>C	c.(16-18)gTt>gCt	p.V6A	RNF214_ENST00000300650.4_Missense_Mutation_p.V6A|RNF214_ENST00000531287.1_Missense_Mutation_p.V6A|RNF214_ENST00000531452.1_Missense_Mutation_p.V6A			Q8ND24	RN214_HUMAN	ring finger protein 214	6							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		GCGTCTGAGGTTGCTGGTGTT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	159	159			NA	NA	11		NA											NA				117105005		1991	4170	6161	SO:0001583	missense			AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257	257160	257160		RING-type (C3HC4) zinc fingers	25335	protein-coding gene	gene with protein product					NA		Standard	NM_001077239	NM_001077239	NA	Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000530849.1:c.17T>C	11.37:g.117105005T>C	ENSP00000432903:p.Val6Ala	NA		37		.	.	.	.	.	.	.	.	.	.	T	20.1	3.933225	0.73442	.	.	ENSG00000167257	ENST00000534428;ENST00000531287;ENST00000531452;ENST00000530849;ENST00000300650	T;T;T;T	0.64438	-0.08;0.63;-0.1;0.63	4.86	4.86	0.63082	.	.	.	.	.	T	0.66137	0.2759	N	0.22421	0.69	0.24531	N	0.994112	B;D	0.58268	0.135;0.982	B;D	0.70227	0.037;0.968	T	0.58053	-0.7704	9	0.87932	D	0	-1.7778	10.7639	0.46281	0.0:0.0:0.0:1.0	.	6;6	B4DTD1;Q8ND24	.;RN214_HUMAN	A	6	ENSP00000435361:V6A;ENSP00000431643:V6A;ENSP00000432903:V6A;ENSP00000300650:V6A	ENSP00000300650:V6A	V	+	2	0	RNF214	116610215	0.863000	0.29885	0.960000	0.40013	0.912000	0.54170	1.284000	0.33249	2.027000	0.59764	0.533000	0.62120	GTT	RNF214-004	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000392885.1		+	ENST00000530849.1	Missense_Mutation	SNP	11 : 117105005 - 117105005 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	795	129
C3orf72	0	broad.mit.edu	37	3	138669185	138669185	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138669185G>A	ENST00000383165.3	+	3	430	c.299G>A	c.(298-300)cGc>cAc	p.R100H		NM_001040061.2	NP_001035150.1	Q6ZUU3	CC072_HUMAN		100										large_intestine(1)|lung(3)	4						GGGAAGCGTCGCGGCTGCTCT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	17	15			NA	NA	3		NA											NA				138669185		1664	3841	5505	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000383165.3:c.299G>A	3.37:g.138669185G>A	ENSP00000372651:p.Arg100His	NA	A6NGX0	37	CCDS43155.1	.	.	.	.	.	.	.	.	.	.	G	6.161	0.397971	0.11696	.	.	ENSG00000206262	ENST00000383165	.	.	.	1.79	-1.45	0.08828	.	.	.	.	.	T	0.15825	0.0381	N	0.08118	0	0.09310	N	1	B	0.17465	0.022	B	0.04013	0.001	T	0.16867	-1.0388	8	0.54805	T	0.06	.	4.1627	0.10291	0.1688:0.3982:0.433:0.0	.	100	Q6ZUU3	CC072_HUMAN	H	100	.	ENSP00000372651:R100H	R	+	2	0	C3orf72	140151875	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.418000	0.07080	-0.475000	0.06852	0.555000	0.69702	CGC	C3orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357986.1		+	ENST00000383165.3	Missense_Mutation	SNP	3 : 138669185 - 138669185 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	54
ANAPC2	29882	broad.mit.edu	37	9	140069809	140069809	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140069809G>T	ENST00000323927.2	-	12	2140	c.2136C>A	c.(2134-2136)acC>acA	p.T712T	ANAPC2_ENST00000487917.1_5'UTR	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	712					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		TGACAGAGAAGGTGCCGGGGG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	30	30			NA	NA	9		NA											NA				140069809		2195	4296	6491	SO:0001819	synonymous_variant			AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248	29882	29882		Anaphase promoting complex subunits	19989	protein-coding gene	gene with protein product		606946			NA	11739784	Standard	NM_013366	NM_013366	NA	Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.2136C>A	9.37:g.140069809G>T		NA	Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	37	CCDS7033.1																																																																																			ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055315.1		-	ENST00000323927.2	Silent	SNP	9 : 140069809 - 140069809 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	178	30
ZKSCAN5	23660	broad.mit.edu	37	7	99123455	99123455	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99123455T>C	ENST00000394170.2	+	6	1043	c.792T>C	c.(790-792)aaT>aaC	p.N264N	ZKSCAN5_ENST00000451158.1_Silent_p.N264N|ZKSCAN5_ENST00000326775.5_Silent_p.N264N	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	264	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CCAGGGACAATATGGAGCTCA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	95	93			NA	NA	7		NA											NA				99123455		2203	4300	6503	SO:0001819	synonymous_variant			AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652	23660	23660		Zinc fingers, C2H2-type, -, -, -	12867	protein-coding gene	gene with protein product		611272	zinc finger protein homologous to Zfp95 in mouse, zinc finger protein 95 homolog (mouse)	ZFP95	NA	10585779	Standard	NM_014569	NM_014569	NA	Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.792T>C	7.37:g.99123455T>C		NA	A4D280|D6W5S9	37	CCDS5667.1																																																																																			ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345597.1		+	ENST00000394170.2	Silent	SNP	7 : 99123455 - 99123455 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	692	144
ANAPC4	29945	broad.mit.edu	37	4	25418146	25418146	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25418146C>A	ENST00000315368.3	+	27	2143	c.2001C>A	c.(1999-2001)gtC>gtA	p.V667V	ANAPC4_ENST00000510092.1_Silent_p.V668V	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	667					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				GACTCTTGGTCCAGCTGCCTT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	112	114			NA	NA	4		NA											NA				25418146		2203	4300	6503	SO:0001819	synonymous_variant			AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900	29945	29945		Anaphase promoting complex subunits	19990	protein-coding gene	gene with protein product		606947			NA	6180011	Standard	NM_013367	NM_013367	NA	Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.2001C>A	4.37:g.25418146C>A		NA	A8K8H1|Q6PCC6|Q9NSH6	37	CCDS3434.1																																																																																			ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214986.1		+	ENST00000315368.3	Silent	SNP	4 : 25418146 - 25418146 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	348	62
ETNPPL	64850	broad.mit.edu	37	4	109670609	109670609	+	Missense_Mutation	SNP	C	C	T	rs114129706	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:109670609C>T	ENST00000510706.1	-	8	888	c.592G>A	c.(592-594)Ggt>Agt	p.G198S	ETNPPL_ENST00000411864.2_Missense_Mutation_p.G232S|ETNPPL_ENST00000512646.1_Missense_Mutation_p.G180S|ETNPPL_ENST00000296486.3_Missense_Mutation_p.G238S					ethanolamine-phosphate phospho-lyase	NA											NA						CCCCCTGCACCGTGTACATAT	0.443		NA											C	9	0.0041	0.02	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0041	0.9946	LOWCOV,EXOME	NA	NA	0.001	SNP								NA				0								C	SER/GLY,SER/GLY,SER/GLY	73,4333	64.1+/-101.4	1,71,2131	85	87	86		694,538,712	-4.3	0	4	dbSNP_132	86	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	AGXT2L1	NM_001146590.1,NM_001146627.1,NM_031279.3	56,56,56	1,72,6430	TT,TC,CC	NA	0.0116,1.6568,0.569	benign,benign,benign	232/494,180/442,238/500	109670609	74,12932	2203	4300	6503	SO:0001583	missense			AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	64850	64850	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	alanine-glyoxylate aminotransferase 2-like 1	AGXT2L1	NA	7592550, 22241472	Standard	NM_031279	NM_031279	NA	Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000510706.1:c.592G>A	4.37:g.109670609C>T	ENSP00000423240:p.Gly198Ser	NA		37		9	0.004120879120879121	9	0.018292682926829267	0	0.0	0	0.0	0	0.0	C	8.493	0.862392	0.17178	0.016568	1.16E-4	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.62	-4.31	0.03698	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	1.161870	0.06035	N	0.653732	T	0.06690	0.0171	N	0.01410	-0.885	0.09310	N	1	B;B;B	0.16603	0.004;0.003;0.018	B;B;B	0.17098	0.008;0.004;0.017	T	0.24764	-1.0151	9	.	.	.	-0.011	7.8364	0.29371	0.0:0.2267:0.2037:0.5696	.	180;232;238	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	S	238;232;180;198	ENSP00000296486:G238S;ENSP00000392269:G232S;ENSP00000427065:G180S;ENSP00000423240:G198S	.	G	-	1	0	AGXT2L1	109890058	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.901000	0.04093	-0.357000	0.08175	-0.145000	0.13849	GGT	ETNPPL-001	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000363507.1		-	ENST00000510706.1	Missense_Mutation	SNP	4 : 109670609 - 109670609 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	507	45
LAMA5	3911	broad.mit.edu	37	20	60903983	60903983	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60903983C>T	ENST00000252999.3	-	34	4430	c.4364G>A	c.(4363-4365)gGc>gAc	p.G1455D		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1455	Laminin EGF-like 12.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGACACTGGCCCCCGAAGGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	51	50			NA	NA	20		NA											NA				60903983		2202	4298	6500	SO:0001583	missense			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702	3911	3911		Laminins	6485	protein-coding gene	gene with protein product		601033			NA	9271224	Standard	NM_005560	NM_005560	NA	Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.4364G>A	20.37:g.60903983C>T	ENSP00000252999:p.Gly1455Asp	NA	Q8TDF8|Q8WZA7|Q9H1P1	37	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515262	0.85389	.	.	ENSG00000130702	ENST00000252999	T	0.75589	-0.95	4.47	3.49	0.39957	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	D	0.90724	0.7089	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92980	0.6405	10	0.87932	D	0	.	13.4219	0.61003	0.1586:0.8414:0.0:0.0	.	1455	O15230	LAMA5_HUMAN	D	1455	ENSP00000252999:G1455D	ENSP00000252999:G1455D	G	-	2	0	LAMA5	60337378	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.245000	0.78237	0.794000	0.33899	0.455000	0.32223	GGC	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080014.2		-	ENST00000252999.3	Missense_Mutation	SNP	20 : 60903983 - 60903983 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	406	88
FAM120A	23196	broad.mit.edu	37	9	96233472	96233472	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96233472G>A	ENST00000277165.6	+	2	718	c.524G>A	c.(523-525)aGa>aAa	p.R175K	FAM120A_ENST00000340893.4_Missense_Mutation_p.R175K|FAM120A_ENST00000333936.5_Missense_Mutation_p.R175K|FAM120A_ENST00000375389.3_Missense_Mutation_p.R175K	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	175						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGTTTCTGCAGAGAGAATGGT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													191	156	168			NA	NA	9		NA											NA				96233472		2203	4300	6503	SO:0001583	missense			AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828	23196	23196			13247	protein-coding gene	gene with protein product	DNA polymerase-transactivated protein 1, oxidative stess-associated Src activator	612265	chromosome 9 open reading frame 10	C9orf10	NA	14585507	Standard	NM_014612	NM_001286722	NA	Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.524G>A	9.37:g.96233472G>A	ENSP00000277165:p.Arg175Lys	NA	A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	37	CCDS6706.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.2|29.2	4.982898|4.982898	0.93044|0.93044	.|.	.|.	ENSG00000048828|ENSG00000048828	ENST00000446420|ENST00000375389;ENST00000277165;ENST00000333936;ENST00000340893	.|T;T;T;T	.|0.52754	.|0.65;0.65;0.65;0.65	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.62588|0.62588	0.2440|0.2440	L|L	0.50333|0.50333	1.59|1.59	0.44825|0.44825	D|D	0.997839|0.997839	.|B;D	.|0.56035	.|0.394;0.974	.|B;P	.|0.60541	.|0.187;0.876	T|T	0.63703|0.63703	-0.6577|-0.6577	5|10	.|0.72032	.|D	.|0.01	-14.9215|-14.9215	19.1566|19.1566	0.93514|0.93514	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|175;175	.|Q9NZB2;Q9NZB2-2	.|F120A_HUMAN;.	K|K	18|175	.|ENSP00000364538:R175K;ENSP00000277165:R175K;ENSP00000334918:R175K;ENSP00000344698:R175K	.|ENSP00000277165:R175K	E|R	+|+	1|2	0|0	FAM120A|FAM120A	95273293|95273293	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.697000|7.697000	0.84279|0.84279	2.763000|2.763000	0.94921|0.94921	0.561000|0.561000	0.74099|0.74099	GAG|AGA	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053160.2		+	ENST00000277165.6	Missense_Mutation	SNP	9 : 96233472 - 96233472 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	69
CC2D1B	200014	broad.mit.edu	37	1	52824024	52824024	+	Silent	SNP	C	C	T	rs140467530	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52824024C>T	ENST00000371586.2	-	13	1578	c.1440G>A	c.(1438-1440)ccG>ccA	p.P480P	CC2D1B_ENST00000284376.3_Silent_p.P480P|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000438831.1_5'UTR	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	480								p.P480P(1)		breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						CTTTATCAGCCGGGGCTGAAT	0.582		NA												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)						C		0,4406		0,0,2203	55	53	54		1440	-6	0	1	dbSNP_134	54	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	CC2D1B	NM_032449.2		0,4,6499	TT,TC,CC	NA	0.0465,0.0,0.0308		480/859	52824024	4,13002	2203	4300	6503	SO:0001819	synonymous_variant			AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222	200014	200014			29386	protein-coding gene	gene with protein product					NA	11347906	Standard	NM_032449	NM_032449	NA	Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.1440G>A	1.37:g.52824024C>T		NA	Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	37	CCDS30714.1	.	.	.	.	.	.	.	.	.	.	C	0.212	-1.035508	0.02029	0.0	4.65E-4	ENSG00000154222	ENST00000438021;ENST00000450942	.	.	.	4.99	-6.02	0.02192	.	.	.	.	.	T	0.28566	0.0707	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.36065	-0.9763	4	.	.	.	0.094	9.3705	0.38250	0.0:0.5751:0.2411:0.1838	.	.	.	.	Q	267;400	.	.	R	-	2	0	CC2D1B	52596612	0.000000	0.05858	0.028000	0.17463	0.012000	0.07955	-4.244000	0.00267	-1.015000	0.03375	-0.415000	0.06103	CGG	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022189.1		-	ENST00000371586.2	Silent	SNP	1 : 52824024 - 52824024 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	28
HPS1	3257	broad.mit.edu	37	10	100177447	100177447	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100177447G>A	ENST00000325103.6	-	20	2210	c.1977C>T	c.(1975-1977)acC>acT	p.T659T	HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Silent_p.T659T	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	659					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	p.T659T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		TGACAGCCTCGGTTGGGCGGT	0.667		NA							Hermansky-Pudlak syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											72	65	67			NA	NA	10		NA											NA				100177447		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	HPS, HPS1-8	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521	3257	3257			5163	protein-coding gene	gene with protein product		604982	Hermansky-Pudlak syndrome	HPS	NA	8541858, 7573033	Standard	NM_000195, NM_182637, NM_182638, NM_182639	NM_182639	NA	Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.1977C>T	10.37:g.100177447G>A		NA	A8MRT2|O15402|O15502|Q5TAA3	37	CCDS7475.1																																																																																			HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049776.1		-	ENST00000325103.6	Silent	SNP	10 : 100177447 - 100177447 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	56
RPL21	6144	broad.mit.edu	37	13	27829420	27829420	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27829420C>T	ENST00000311549.6	+	4	460	c.171C>T	c.(169-171)taC>taT	p.Y57Y	RPL21_ENST00000272274.4_Silent_p.Y57Y|RPL21_ENST00000319826.4_Silent_p.Y57Y|RPL21_ENST00000326092.4_Silent_p.Y57Y	NM_000982.3	NP_000973.2	P46778	RL21_HUMAN	ribosomal protein L21	57					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			large_intestine(1)|lung(1)	2		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0287)|OV - Ovarian serous cystadenocarcinoma(117;0.118)|Epithelial(112;0.139)|GBM - Glioblastoma multiforme(144;0.21)		ACAAGTGTTACCATGGCAAAA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	86	85			NA	NA	13		NA											NA				27829420		2203	4298	6501	SO:0001819	synonymous_variant			AB007176	CCDS9320.1	13q12.2	2008-07-18			ENSG00000122026	ENSG00000122026	6144	6144		L ribosomal proteins	10313	protein-coding gene	gene with protein product	60S ribosomal protein L21	603636			NA	3459254, 7772601	Standard	NM_000982	NM_000982	NA	Approved	L21, FLJ27458, MGC71252, MGC104274, MGC104275, DKFZp686C06101	uc001ura.3	P46778	OTTHUMG00000016630	ENST00000311549.6:c.171C>T	13.37:g.27829420C>T		NA	Q16699	37	CCDS9320.1																																																																																			RPL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044270.1		+	ENST00000311549.6	Silent	SNP	13 : 27829420 - 27829420 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	365	74
DICER1	23405	broad.mit.edu	37	14	95596505	95596505	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95596505C>T	ENST00000526495.1	-	7	754	c.463G>A	c.(463-465)Gcc>Acc	p.A155T	DICER1_ENST00000541352.1_Missense_Mutation_p.A155T|DICER1_ENST00000343455.3_Missense_Mutation_p.A155T|DICER1_ENST00000527414.1_Missense_Mutation_p.A155T|DICER1_ENST00000393063.1_Missense_Mutation_p.A155T			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	155	Helicase ATP-binding.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ACATTCAAGGCGACATAGCAA	0.353		NA	Mis F, N		sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	dicer 1, ribonuclease type III 		E, M, O	0													87	73	77			NA	NA	14		NA											NA				95596505		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697	23405	23405			17098	protein-coding gene	gene with protein product	dicer 1, double-stranded RNA-specific endoribonuclease	606241	Dicer1, Dcr-1 homolog (Drosophila), multinodular goitre 1	MNG1	NA	10051563, 10786632, 21205968	Standard		NM_177438	NA	Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.463G>A	14.37:g.95596505C>T	ENSP00000437256:p.Ala155Thr	NA	A7E2D3|O95943|Q9UQ02	37	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395293	0.62066	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46	5.84	5.84	0.93424	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.142483	0.64402	D	0.000005	T	0.11879	0.0289	N	0.17082	0.46	0.41634	D	0.98903	P	0.37663	0.604	B	0.32980	0.156	T	0.05767	-1.0865	10	0.87932	D	0	-14.1645	14.9169	0.70805	0.1431:0.8569:0.0:0.0	.	155	Q9UPY3	DICER_HUMAN	T	155	ENSP00000343745:A155T;ENSP00000437256:A155T;ENSP00000376783:A155T;ENSP00000435681:A155T;ENSP00000444719:A155T	ENSP00000343745:A155T	A	-	1	0	DICER1	94666258	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.910000	0.56371	2.753000	0.94483	0.650000	0.86243	GCC	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387997.1		-	ENST00000526495.1	Missense_Mutation	SNP	14 : 95596505 - 95596505 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	171	16
DPYS	1807	broad.mit.edu	37	8	105463555	105463555	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105463555G>A	ENST00000351513.2	-	2	474	c.342C>T	c.(340-342)ttC>ttT	p.F114F		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	114					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCCAGGTCTCGAAGGCCTCAA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	87	91			NA	NA	8		NA											NA				105463555		2203	4300	6503	SO:0001819	synonymous_variant			D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647	1807	1807			3013	protein-coding gene	gene with protein product		613326			NA	8973361	Standard	NM_001385	NM_001385	NA	Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.342C>T	8.37:g.105463555G>A		NA		37	CCDS6302.1																																																																																			DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380814.1		-	ENST00000351513.2	Silent	SNP	8 : 105463555 - 105463555 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	250	44
CCDC158	339965	broad.mit.edu	37	4	77304873	77304873	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77304873C>A	ENST00000434846.2	-	6	915	c.745G>T	c.(745-747)Gca>Tca	p.A249S	CCDC158_ENST00000388914.3_Missense_Mutation_p.A249S			Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	249										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GATTTCAGTGCTTCAAGTTGA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													241	207	218			NA	NA	4		NA											NA				77304873		1839	4086	5925	SO:0001583	missense			BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749	339965	339965			26374	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_001042784	NM_001042784	NA	Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000434846.2:c.745G>T	4.37:g.77304873C>A	ENSP00000401742:p.Ala249Ser	NA	Q8IYQ1|Q8N7D4|Q8N7E3	37		.	.	.	.	.	.	.	.	.	.	C	7.400	0.632564	0.14322	.	.	ENSG00000163749	ENST00000388914;ENST00000318586;ENST00000434846	T;T	0.32515	1.55;1.45	5.78	0.505	0.16953	.	0.527792	0.17548	N	0.170298	T	0.08179	0.0204	N	0.02539	-0.55	0.22424	N	0.999117	B;B	0.20052	0.041;0.001	B;B	0.15484	0.013;0.003	T	0.32348	-0.9910	10	0.07030	T	0.85	.	3.4218	0.07396	0.2284:0.2999:0.0:0.4717	.	249;249	Q5M9N0-3;Q5M9N0	.;CD158_HUMAN	S	249	ENSP00000373566:A249S;ENSP00000401742:A249S	ENSP00000316815:A249S	A	-	1	0	CCDC158	77523897	0.999000	0.42202	0.997000	0.53966	0.901000	0.52897	0.400000	0.20932	0.132000	0.18615	0.650000	0.86243	GCA	CCDC158-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000362692.2		-	ENST00000434846.2	Missense_Mutation	SNP	4 : 77304873 - 77304873 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	459	70
NID1	4811	broad.mit.edu	37	1	236157147	236157147	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236157147G>A	ENST00000264187.6	-	13	2635	c.2553C>T	c.(2551-2553)caC>caT	p.H851H	NID1_ENST00000366595.3_Silent_p.H718H	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	851	Thyroglobulin type-1.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GTTCTCGCTCGTGCTGGCACC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	29	29			NA	NA	1		NA											NA				236157147		2203	4300	6503	SO:0001819	synonymous_variant			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962	4811	4811			7821	protein-coding gene	gene with protein product		131390	nidogen (enactin)	NID	NA	2471408, 7557988	Standard	NM_002508	NM_002508	NA	Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2553C>T	1.37:g.236157147G>A		NA	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	37	CCDS1608.1																																																																																			NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096647.2		-	ENST00000264187.6	Silent	SNP	1 : 236157147 - 236157147 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	219	14
WDR41	55255	broad.mit.edu	37	5	76758930	76758930	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76758930C>A	ENST00000296679.4	-	4	713	c.338G>T	c.(337-339)aGa>aTa	p.R113I	WDR41_ENST00000414719.2_5'UTR|WDR41_ENST00000507029.1_Missense_Mutation_p.R58I	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	113										NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		AATAACTGTTCTATCAGCAGA	0.383		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	5		NA											NA				76758930		2203	4300	6503	SO:0001583	missense			AF115511	CCDS4038.1	5q14	2013-01-09			ENSG00000164253	ENSG00000164253	55255	55255		WD repeat domain containing	25601	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_018268	NM_018268	NA	Approved	FLJ10904	uc003kff.1	Q9HAD4	OTTHUMG00000102169	ENST00000296679.4:c.338G>T	5.37:g.76758930C>A	ENSP00000296679:p.Arg113Ile	NA	Q7Z792|Q8IWG3|Q8IXA9|Q8NDA7|Q9NV62	37	CCDS4038.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676484	0.67928	.	.	ENSG00000164253	ENST00000296679;ENST00000515253;ENST00000507029;ENST00000514559;ENST00000511036;ENST00000504895;ENST00000509971	T;T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08;0.08	5.81	0.884	0.19182	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.194541	0.53938	D	0.000045	T	0.74861	0.3772	M	0.93550	3.43	0.80722	D	1	P;D	0.55800	0.896;0.973	P;P	0.58210	0.603;0.835	T	0.75560	-0.3275	10	0.59425	D	0.04	-5.7762	9.5332	0.39207	0.0:0.5816:0.0:0.4184	.	58;113	B4DT55;Q9HAD4	.;WDR41_HUMAN	I	113;106;58;113;108;105;110	ENSP00000296679:R113I;ENSP00000426499:R106I;ENSP00000424287:R58I;ENSP00000426937:R113I;ENSP00000422510:R108I;ENSP00000426141:R105I;ENSP00000422922:R110I	ENSP00000296679:R113I	R	-	2	0	WDR41	76794686	0.999000	0.42202	0.709000	0.30452	0.972000	0.66771	0.551000	0.23361	-0.120000	0.11809	-0.312000	0.09012	AGA	WDR41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000220014.2		-	ENST00000296679.4	Missense_Mutation	SNP	5 : 76758930 - 76758930 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	227	39
NOD2	64127	broad.mit.edu	37	16	50733613	50733613	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50733613T>C	ENST00000300589.2	+	2	393	c.288T>C	c.(286-288)ggT>ggC	p.G96G	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	96	CARD 1.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GGAATAAGGGTACTTGGGCCT	0.657		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	16		NA											NA				50733613		2198	4300	6498	SO:0001819	synonymous_variant			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207	64127	64127		Nucleotide-binding domain and leucine rich repeat containing	5331	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2, NOD-like receptor C2, NLR family, CARD domain containing 2	605956	caspase recruitment domain family, member 15	IBD1, CARD15	NA	7809109, 8587604	Standard	NM_022162	XM_005256084	NA	Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.288T>C	16.37:g.50733613T>C		NA	Q96RH5|Q96RH6|Q96RH8	37	CCDS10746.1																																																																																			NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256876.2		+	ENST00000300589.2	Silent	SNP	16 : 50733613 - 50733613 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	382	16
TXNDC16	57544	broad.mit.edu	37	14	52957612	52957612	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52957612C>T	ENST00000281741.4	-	10	1239	c.868G>A	c.(868-870)Gca>Aca	p.A290T	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	290					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					ACCCATTCTGCAGTTCTTCTA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	114	113			NA	NA	14		NA											NA				52957612		2203	4300	6503	SO:0001583	missense			AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301	57544	57544			19965	protein-coding gene	gene with protein product			KIAA1344	KIAA1344	NA		Standard	XM_051699	NM_020784	NA	Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.868G>A	14.37:g.52957612C>T	ENSP00000281741:p.Ala290Thr	NA	A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	37	CCDS32083.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.950519	0.92660	.	.	ENSG00000087301	ENST00000281741	T	0.24908	1.83	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.51210	0.1661	M	0.71581	2.175	0.51012	D	0.999903	D;D	0.89917	1.0;0.993	D;P	0.91635	0.999;0.869	T	0.43130	-0.9410	10	0.42905	T	0.14	-20.0312	17.16	0.86801	0.0:1.0:0.0:0.0	.	285;290	B7ZME4;Q9P2K2	.;TXD16_HUMAN	T	290	ENSP00000281741:A290T	ENSP00000281741:A290T	A	-	1	0	TXNDC16	52027362	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.958000	0.63660	2.709000	0.92574	0.655000	0.94253	GCA	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411681.1		-	ENST00000281741.4	Missense_Mutation	SNP	14 : 52957612 - 52957612 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	618	99
AMIGO2	347902	broad.mit.edu	37	12	47471719	47471719	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:47471719T>C	ENST00000266581.4	-	2	1533	c.1067A>G	c.(1066-1068)gAg>gGg	p.E356G	AMIGO2_ENST00000550413.1_Missense_Mutation_p.E356G|AMIGO2_ENST00000321382.3_Missense_Mutation_p.E356G|AMIGO2_ENST00000429635.1_Missense_Mutation_p.E356G	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	356	Ig-like C2-type.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					TCCAGCATCCTCAAAACGAGG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	129	129			NA	NA	12		NA											NA				47471719		2203	4300	6503	SO:0001583	missense				CCDS8751.1	12q13.11	2013-01-11				ENSG00000139211	347902	347902		Immunoglobulin superfamily / Immunoglobulin-like domain containing	24073	protein-coding gene	gene with protein product	amphoterin-induced gene and open reading frame 2	615690			NA	12629050, 12843293, 15107827	Standard	NM_181847	NM_181847	NA	Approved	ALI1, DEGA	uc001rpk.3	Q86SJ2		ENST00000266581.4:c.1067A>G	12.37:g.47471719T>C	ENSP00000266581:p.Glu356Gly	NA	Q4VBP6|Q7Z4A0|Q96CN8	37	CCDS8751.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.209101	0.58343	.	.	ENSG00000139211	ENST00000266581;ENST00000550413;ENST00000429635;ENST00000321382	T;T;T;T	0.14266	2.52;2.52;2.52;2.52	5.02	5.02	0.67125	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.14485	0.0350	L	0.46670	1.46	0.53005	D	0.99996	P	0.34757	0.467	B	0.39119	0.291	T	0.04509	-1.0946	10	0.34782	T	0.22	-20.9045	9.2112	0.37320	0.0:0.0829:0.0:0.9171	.	356	Q86SJ2	AMGO2_HUMAN	G	356	ENSP00000266581:E356G;ENSP00000449034:E356G;ENSP00000406020:E356G;ENSP00000320848:E356G	ENSP00000266581:E356G	E	-	2	0	AMIGO2	45757986	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	5.776000	0.68924	2.183000	0.69458	0.454000	0.30748	GAG	AMIGO2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405075.1		-	ENST00000266581.4	Missense_Mutation	SNP	12 : 47471719 - 47471719 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	624	59
STAB2	55576	broad.mit.edu	37	12	104015879	104015879	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104015879C>T	ENST00000388887.2	+	5	681	c.477C>T	c.(475-477)agC>agT	p.S159S		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	159	EGF-like 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TTGGACCCAGCTGTTCATCAG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													241	207	219			NA	NA	12		NA											NA				104015879		2203	4300	6503	SO:0001819	synonymous_variant			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011	55576	55576			18629	protein-coding gene	gene with protein product	hyaluronic acid receptor for endocytosis	608561			NA	11829752, 12077138	Standard		XR_429107	NA	Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.477C>T	12.37:g.104015879C>T		NA	Q6ZMK2|Q7Z5N9|Q86UR4|Q8IUG9|Q8TES1|Q9H7H7|Q9NRY3	37	CCDS31888.1																																																																																			STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407089.1		+	ENST00000388887.2	Silent	SNP	12 : 104015879 - 104015879 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	50
ZNF134	7693	broad.mit.edu	37	19	58132057	58132057	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58132057A>G	ENST00000396161.5	+	3	880	c.570A>G	c.(568-570)acA>acG	p.T190T		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	190						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GCAAAGACACACTTGTCCAGC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	59	57			NA	NA	19		NA											NA				58132057		2203	4299	6502	SO:0001819	synonymous_variant			U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762	7693	7693		Zinc fingers, C2H2-type	12918	protein-coding gene	gene with protein product		604076	zinc finger protein 134 (clone pHZ-15)		NA	7557990	Standard	NM_003435	NM_003435	NA	Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.570A>G	19.37:g.58132057A>G		NA	Q9Y4B2	37	CCDS42638.1																																																																																			ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466808.1		+	ENST00000396161.5	Silent	SNP	19 : 58132057 - 58132057 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	238	57
TMEM237	65062	broad.mit.edu	37	2	202492840	202492840	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202492840C>T	ENST00000409444.2	-	10	1195	c.878G>A	c.(877-879)cGa>cAa	p.R293Q	TMEM237_ENST00000409883.2_Missense_Mutation_p.R301Q|TMEM237_ENST00000466839.1_5'UTR	NM_152388.3	NP_689601.2	Q96Q45	TM237_HUMAN	transmembrane protein 237	325						integral to membrane	protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						CAAAAAATTTCGGATTGCTAC	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	50	50			NA	NA	2		NA											NA				202492840		1814	4072	5886	SO:0001583	missense			AB053301	CCDS46489.1, CCDS46490.1	2q33	2012-05-08	2011-05-20	2011-05-20	ENSG00000155755	ENSG00000155755	65062	65062			14432	protein-coding gene	gene with protein product		614423	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4	ALS2CR4	NA	11586298, 20375344	Standard	NM_152388	NM_001044385	NA	Approved	JBTS14	uc021vvg.2	Q96Q45	OTTHUMG00000154526	ENST00000409444.2:c.878G>A	2.37:g.202492840C>T	ENSP00000387203:p.Arg293Gln	NA	Q53TS9|Q53TT2|Q7Z3B6|Q8IZ18|Q8NBF8|Q96CY1	37	CCDS46490.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773231	0.90108	.	.	ENSG00000155755	ENST00000409444;ENST00000409883;ENST00000435876;ENST00000426684;ENST00000409099	.	.	.	5.38	4.5	0.54988	.	0.161524	0.49916	N	0.000136	T	0.76564	0.4005	M	0.68952	2.095	0.49915	D	0.99983	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.79024	-0.1972	9	0.72032	D	0.01	-5.6558	13.7138	0.62685	0.0:0.9261:0.0:0.0739	.	301;325	E9PAR8;Q96Q45	.;TM237_HUMAN	Q	293;301;301;323;206	.	ENSP00000386949:R206Q	R	-	2	0	TMEM237	202201085	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	3.610000	0.54125	1.263000	0.44181	0.563000	0.77884	CGA	TMEM237-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335754.2		-	ENST00000409444.2	Missense_Mutation	SNP	2 : 202492840 - 202492840 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	69	12
CCDC130	81576	broad.mit.edu	37	19	13869941	13869941	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13869941C>T	ENST00000586600.1	+	9	931	c.428C>T	c.(427-429)aCg>aTg	p.T143M	CCDC130_ENST00000221554.8_Missense_Mutation_p.T143M|CCDC130_ENST00000587019.1_3'UTR			P13994	CC130_HUMAN	coiled-coil domain containing 130	143					response to virus		protein binding			endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			AAGCTGGAGACGGACGCCATG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	29	29			NA	NA	19		NA											NA				13869941		2202	4298	6500	SO:0001583	missense			AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957	81576	81576			28118	protein-coding gene	gene with protein product					NA	3203696	Standard	NM_030818	NM_030818	NA	Approved	MGC10471	uc002mxc.1	P13994		ENST00000586600.1:c.428C>T	19.37:g.13869941C>T	ENSP00000465776:p.Thr143Met	NA	Q9BQ72	37	CCDS12296.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163654	0.57476	.	.	ENSG00000104957	ENST00000221554	T	0.30714	1.52	5.27	3.15	0.36227	.	0.144833	0.64402	N	0.000009	T	0.24774	0.0601	L	0.48174	1.505	0.80722	D	1	P;P	0.39003	0.502;0.654	B;B	0.35770	0.21;0.21	T	0.02603	-1.1135	10	0.46703	T	0.11	-11.8772	9.6341	0.39798	0.0:0.8283:0.0:0.1717	.	143;143	B3KUZ1;P13994	.;CC130_HUMAN	M	143	ENSP00000221554:T143M	ENSP00000221554:T143M	T	+	2	0	CCDC130	13730941	0.999000	0.42202	0.609000	0.28983	0.993000	0.82548	4.152000	0.58111	0.625000	0.30304	0.561000	0.74099	ACG	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453216.2		+	ENST00000586600.1	Missense_Mutation	SNP	19 : 13869941 - 13869941 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	181	25
FRYL	285527	broad.mit.edu	37	4	48502115	48502115	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48502115A>C	ENST00000503238.1	-	60	8714	c.8715T>G	c.(8713-8715)atT>atG	p.I2905M	FRYL_ENST00000358350.4_Missense_Mutation_p.I2905M|FRYL_ENST00000537810.1_Missense_Mutation_p.I2905M|FRYL_ENST00000264319.7_Missense_Mutation_p.I295M|FRYL_ENST00000507873.2_Missense_Mutation_p.I295M			O94915	FRYL_HUMAN	FRY-like	2905					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TTAAAGAATGAATGGCAGTTT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	87	87			NA	NA	4		NA											NA				48502115		1826	4077	5903	SO:0001583	missense			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539	285527	285527			29127	protein-coding gene	gene with protein product			KIAA0826, furry homolog-like (Drosophila)	KIAA0826	NA	10048485	Standard		NM_015030	NA	Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.8715T>G	4.37:g.48502115A>C	ENSP00000426064:p.Ile2905Met	NA	O95640|Q8WTZ5|Q9NT40	37	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	A	19.43	3.826638	0.71143	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	T;T;T	0.25579	1.79;1.79;1.79	5.95	2.33	0.28932	.	0.071684	0.53938	U	0.000056	T	0.36303	0.0962	L	0.50333	1.59	0.54753	D	0.999988	P;P;D	0.63880	0.586;0.821;0.993	P;P;P	0.61477	0.602;0.776;0.889	T	0.04885	-1.0920	10	0.52906	T	0.07	.	8.3532	0.32314	0.7613:0.0:0.2387:0.0	.	2905;2905;295	O94915;F5GX82;O94915-2	FRYL_HUMAN;.;.	M	2905;2905;2905;295;295	ENSP00000426064:I2905M;ENSP00000351113:I2905M;ENSP00000441114:I2905M	ENSP00000264319:I295M	I	-	3	3	FRYL	48196872	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.077000	0.50089	0.509000	0.28195	0.402000	0.26972	ATT	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369265.2		-	ENST00000503238.1	Missense_Mutation	SNP	4 : 48502115 - 48502115 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	61
GRM2	2912	broad.mit.edu	37	3	51743339	51743339	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51743339G>A	ENST00000395052.3	+	2	574	c.340G>A	c.(340-342)Gct>Act	p.A114T	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.A114T	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	114					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CAGCCGTGGTGCTGATGGCTC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	72	78			NA	NA	3		NA											NA				51743339		2203	4300	6503	SO:0001583	missense			L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082	2912	2912		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4594	protein-coding gene	gene with protein product		604099			NA	7620613	Standard		NM_000839	NA	Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.340G>A	3.37:g.51743339G>A	ENSP00000378492:p.Ala114Thr	NA	B0M0K7|Q14CU5|Q52MC6|Q9H3N6	37	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202368	0.38905	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	D;D	0.86097	-2.07;-2.07	5.42	5.42	0.78866	Extracellular ligand-binding receptor (1);	0.143290	0.48286	D	0.000185	T	0.66626	0.2808	N	0.02721	-0.515	0.41098	D	0.985647	B	0.17038	0.02	B	0.21360	0.034	T	0.64037	-0.6501	10	0.14252	T	0.57	.	12.5595	0.56273	0.0758:0.0:0.9242:0.0	.	114	Q14416	GRM2_HUMAN	T	114	ENSP00000378492:A114T;ENSP00000408906:A114T	ENSP00000296479:A114T	A	+	1	0	GRM2	51718379	0.997000	0.39634	0.260000	0.24451	0.952000	0.60782	4.131000	0.57970	2.555000	0.86185	0.655000	0.94253	GCT	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346542.1		+	ENST00000395052.3	Missense_Mutation	SNP	3 : 51743339 - 51743339 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	365	68
SLC22A5	6584	broad.mit.edu	37	5	131726498	131726498	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131726498C>A	ENST00000245407.3	+	7	1390	c.1169C>A	c.(1168-1170)gCc>gAc	p.A390D	SLC22A5_ENST00000435065.2_Missense_Mutation_p.A414D|SLC22A5_ENST00000479605.1_3'UTR	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	390					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TATGTGTTGGCCTGGCTGCTG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	125	134			NA	NA	5		NA											NA				131726498		2203	4300	6503	SO:0001583	missense			AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375	6584	6584		Solute carriers	10969	protein-coding gene	gene with protein product		603377		CDSP	NA	9618255, 9916797, 9685390	Standard	NM_003060	NM_003060	NA	Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.1169C>A	5.37:g.131726498C>A	ENSP00000245407:p.Ala390Asp	NA	B2R844|D3DQ87|Q6ZQZ8|Q96EH6	37	CCDS4154.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423802	0.83667	.	.	ENSG00000197375	ENST00000245407;ENST00000435065	T;T	0.79554	-1.28;-1.28	6.17	6.17	0.99709	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.202170	0.52532	D	0.000065	D	0.89128	0.6627	M	0.90542	3.125	0.49130	D	0.999754	P;P	0.49447	0.924;0.872	P;P	0.49597	0.616;0.616	D	0.89610	0.3841	10	0.56958	D	0.05	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	414;390	A2Q0V1;O76082	.;S22A5_HUMAN	D	390;414	ENSP00000245407:A390D;ENSP00000402760:A414D	ENSP00000245407:A390D	A	+	2	0	SLC22A5	131754397	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	5.664000	0.68045	2.941000	0.99782	0.655000	0.94253	GCC	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132631.1		+	ENST00000245407.3	Missense_Mutation	SNP	5 : 131726498 - 131726498 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	444	79
PRICKLE2	166336	broad.mit.edu	37	3	64138976	64138976	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:64138976G>A	ENST00000295902.6	-	6	1254	c.669C>T	c.(667-669)ttC>ttT	p.F223F	PRICKLE2_ENST00000564377.1_Silent_p.F279F	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	223	LIM zinc-binding 2.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TCTCACACTCGAAGCAGCAAA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	142	149			NA	NA	3		NA											NA				64138976		2203	4300	6503	SO:0001819	synonymous_variant			AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637	166336	166336			20340	protein-coding gene	gene with protein product		608501	prickle-like 2 (Drosophila)		NA	12525887	Standard	NM_198859	NM_198859	NA	Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.669C>T	3.37:g.64138976G>A		NA	Q0VF44	37	CCDS2902.1																																																																																			PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352219.1		-	ENST00000295902.6	Silent	SNP	3 : 64138976 - 64138976 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	580	124
PEX12	5193	broad.mit.edu	37	17	33904391	33904391	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33904391A>G	ENST00000225873.4	-	2	953	c.346T>C	c.(346-348)Tct>Cct	p.S116P		NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	116					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AACATAATAGATTTCCAAAGC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	131	126			NA	NA	17		NA											NA				33904391		2203	4300	6503	SO:0001583	missense			U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733	5193	5193			8854	protein-coding gene	gene with protein product		601758			NA	9090384	Standard	NM_000286	NM_000286	NA	Approved		uc002hjp.3	O00623	OTTHUMG00000132951	ENST00000225873.4:c.346T>C	17.37:g.33904391A>G	ENSP00000225873:p.Ser116Pro	NA	B2R6M2	37	CCDS11296.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.629455	0.87660	.	.	ENSG00000108733	ENST00000424525;ENST00000225873	D	0.84873	-1.91	5.46	5.46	0.80206	Pex, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92980	0.7766	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93810	0.7109	10	0.59425	D	0.04	-11.9731	14.7232	0.69323	1.0:0.0:0.0:0.0	.	116	O00623	PEX12_HUMAN	P	116	ENSP00000225873:S116P	ENSP00000225873:S116P	S	-	1	0	PEX12	30928504	1.000000	0.71417	0.957000	0.39632	0.975000	0.68041	8.504000	0.90512	2.077000	0.62373	0.528000	0.53228	TCT	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256489.2		-	ENST00000225873.4	Missense_Mutation	SNP	17 : 33904391 - 33904391 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1032	47
SLC3A1	6519	broad.mit.edu	37	2	44502742	44502742	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44502742G>T	ENST00000409387.1	+	1	140	c.68G>T	c.(67-69)gGg>gTg	p.G23V	SLC3A1_ENST00000409229.3_Missense_Mutation_p.G23V|SLC3A1_ENST00000410056.3_Missense_Mutation_p.G23V|SLC3A1_ENST00000260649.6_Missense_Mutation_p.G23V|SLC3A1_ENST00000409741.1_Missense_Mutation_p.G23V			Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	23					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	ACAAACAACGGGTTTGTCCAT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	62	63			NA	NA	2		NA											NA				44502742		2203	4300	6503	SO:0001583	missense				CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079	6519	6519		Solute carriers	11025	protein-coding gene	gene with protein product		104614	solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1		NA	8486766, 9186880	Standard	NM_000341	NM_000341	NA	Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000409387.1:c.68G>T	2.37:g.44502742G>T	ENSP00000387308:p.Gly23Val	NA	A8K0S1|O00658|Q15295|Q52M92|Q52M94	37		.	.	.	.	.	.	.	.	.	.	G	16.28	3.078546	0.55753	.	.	ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000410056;ENST00000409741;ENST00000409229;ENST00000541289	D;D;D;D;D	0.99719	-5.95;-6.52;-6.03;-6.41;-6.51	5.39	5.39	0.77823	.	0.114768	0.64402	D	0.000014	D	0.99658	0.9873	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.97981	1.0349	10	0.87932	D	0	-20.3066	19.1557	0.93509	0.0:0.0:1.0:0.0	.	23;23;23;23;23	Q07837;B8ZZK1;Q4J6B5;Q4J6B6;Q4J6B8	SLC31_HUMAN;.;.;.;.	V	23	ENSP00000260649:G23V;ENSP00000387308:G23V;ENSP00000387337:G23V;ENSP00000386954:G23V;ENSP00000386620:G23V	ENSP00000260649:G23V	G	+	2	0	SLC3A1	44356246	1.000000	0.71417	0.967000	0.41034	0.147000	0.21601	5.153000	0.64888	2.517000	0.84864	0.462000	0.41574	GGG	SLC3A1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000327835.1		+	ENST00000409387.1	Missense_Mutation	SNP	2 : 44502742 - 44502742 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	172	36
SUCLG1	8802	broad.mit.edu	37	2	84668576	84668576	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:84668576T>G	ENST00000393868.2	-	4	536	c.326A>C	c.(325-327)gAa>gCa	p.E109A		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	109					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	TCCTGTCTGTTCTTTGGCCTG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(48;203 1101 37206 40305 50790)							NA				0													55	55	55			NA	NA	2		NA											NA				84668576		2203	4300	6503	SO:0001583	missense			Z68204	CCDS1967.2	2p11.3	2008-02-05	2008-01-08		ENSG00000163541	ENSG00000163541	8802	8802	6.2.1.4		11449	protein-coding gene	gene with protein product		611224	succinate-CoA ligase, GDP-forming, alpha subunit		NA	9128182	Standard	NM_003849	NM_003849	NA	Approved		uc002son.3	P53597	OTTHUMG00000130023	ENST00000393868.2:c.326A>C	2.37:g.84668576T>G	ENSP00000377446:p.Glu109Ala	NA	Q9BWB0|Q9UNP6	37	CCDS1967.2	.	.	.	.	.	.	.	.	.	.	T	11.35	1.613566	0.28712	.	.	ENSG00000163541	ENST00000393868	D	0.82893	-1.66	5.89	4.72	0.59763	CoA-binding (2);NAD(P)-binding domain (1);	0.143560	0.64402	N	0.000007	T	0.68265	0.2982	N	0.16201	0.385	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.12156	0.005;0.007	T	0.59558	-0.7432	10	0.17832	T	0.49	-12.6	11.4718	0.50272	0.0:0.0:0.1508:0.8492	.	109;109	B7Z438;P53597	.;SUCA_HUMAN	A	109	ENSP00000377446:E109A	ENSP00000377446:E109A	E	-	2	0	SUCLG1	84522087	1.000000	0.71417	0.983000	0.44433	0.970000	0.65996	4.131000	0.57970	1.027000	0.39758	0.459000	0.35465	GAA	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252298.2		-	ENST00000393868.2	Missense_Mutation	SNP	2 : 84668576 - 84668576 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	208	28
SP7	121340	broad.mit.edu	37	12	53722858	53722858	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53722858G>T	ENST00000537210.2	-	2	543	c.314C>A	c.(313-315)cCc>cAc	p.P105H	SP7_ENST00000536324.2_Missense_Mutation_p.P123H|SP7_ENST00000303846.3_Missense_Mutation_p.P123H			Q8TDD2	SP7_HUMAN	Sp7 transcription factor	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GTAGACACTGGGCAGACAGTC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	77	76			NA	NA	12		NA											NA				53722858		1985	4172	6157	SO:0001583	missense			AF477981	CCDS44897.1, CCDS73475.1	12q13.13	2013-01-08				ENSG00000170374	121340	121340		Specificity protein transcription factors, Zinc fingers, C2H2-type	17321	protein-coding gene	gene with protein product		606633			NA	11792318	Standard		NM_152860	NA	Approved	osterix, OSX	uc001sct.3	Q8TDD2		ENST00000537210.2:c.314C>A	12.37:g.53722858G>T	ENSP00000441367:p.Pro105His	NA	B3KY26|Q3MJ72	37		.	.	.	.	.	.	.	.	.	.	G	12.75	2.030371	0.35797	.	.	ENSG00000170374	ENST00000536324;ENST00000303846;ENST00000537210;ENST00000547755	T;T;T;T	0.42900	3.33;3.33;3.33;0.96	3.79	2.85	0.33270	.	0.209202	0.39834	N	0.001260	T	0.42404	0.1201	N	0.24115	0.695	0.43540	D	0.995831	D	0.64830	0.994	P	0.59221	0.854	T	0.24333	-1.0163	10	0.37606	T	0.19	.	11.9609	0.53007	0.0:0.0:0.8241:0.1759	.	123	Q8TDD2	SP7_HUMAN	H	123;123;105;105	ENSP00000443827:P123H;ENSP00000302812:P123H;ENSP00000441367:P105H;ENSP00000449355:P105H	ENSP00000302812:P123H	P	-	2	0	SP7	52009125	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	3.761000	0.55242	1.108000	0.41662	0.313000	0.20887	CCC	SP7-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000407041.1		-	ENST00000537210.2	Missense_Mutation	SNP	12 : 53722858 - 53722858 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	58
TFG	10342	broad.mit.edu	37	3	100432536	100432536	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100432536G>A	ENST00000240851.4	+	2	347	c.7G>A	c.(7-9)Gga>Aga	p.G3R	TFG_ENST00000490574.1_Missense_Mutation_p.G3R|TFG_ENST00000418917.2_Missense_Mutation_p.G3R|TFG_ENST00000476228.1_Missense_Mutation_p.G3R	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	3					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity	p.G3*(1)	TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						CACCATGAACGGACAGTTGGA	0.353		NA	T	NTRK1, ALK	papillary thyroid, ALCL, NSCLC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		3	3q11-q12	10342	TRK-fused gene		E, L	1	Substitution - Nonsense(1)	lung(1)											98	93	94			NA	NA	3		NA											NA				100432536		2203	4300	6503	SO:0001583	missense			BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354	10342	10342			11758	protein-coding gene	gene with protein product		602498			NA	9169129, 23479643	Standard	NM_006070	NM_001007565	NA	Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.7G>A	3.37:g.100432536G>A	ENSP00000240851:p.Gly3Arg	NA	D3DN49|Q15656|Q969I2	37	CCDS2939.1	.	.	.	.	.	.	.	.	.	.	G	31	5.102352	0.94245	.	.	ENSG00000114354	ENST00000418917;ENST00000490574;ENST00000240851;ENST00000479672;ENST00000476228;ENST00000443578;ENST00000463568;ENST00000487505	T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.48642	0.1511	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.58880	-0.7558	10	0.62326	D	0.03	-10.1794	20.2985	0.98592	0.0:0.0:1.0:0.0	.	3;3	G5E9V1;Q92734	.;TFG_HUMAN	R	3	ENSP00000397182:G3R;ENSP00000419960:G3R;ENSP00000240851:G3R;ENSP00000419559:G3R;ENSP00000417952:G3R;ENSP00000419504:G3R;ENSP00000420797:G3R	ENSP00000240851:G3R	G	+	1	0	TFG	101915226	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.167000	0.94773	2.793000	0.96121	0.655000	0.94253	GGA	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353242.1		+	ENST00000240851.4	Missense_Mutation	SNP	3 : 100432536 - 100432536 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	483	103
SIPA1L1	26037	broad.mit.edu	37	14	72085567	72085567	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:72085567C>T	ENST00000358550.2	+	3	2542	c.1592C>T	c.(1591-1593)tCt>tTt	p.S531F	SIPA1L1_ENST00000555818.1_Missense_Mutation_p.S531F|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S531F|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.S6F	NM_001284246.1	NP_001271175.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	531					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAAAATGGATCTCCGTACAAC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	94	95			NA	NA	14		NA											NA				72085567		2203	4300	6503	SO:0001583	missense			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555	26037	26037			20284	protein-coding gene	gene with protein product					NA	9858596	Standard	NM_015556	XM_005267514	NA	Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000358550.2:c.1592C>T	14.37:g.72085567C>T	ENSP00000351352:p.Ser531Phe	NA	O95321|Q9UDU4|Q9UNU4	37		.	.	.	.	.	.	.	.	.	.	C	11.37	1.619053	0.28801	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413;ENST00000555066	T;T;T;D;D	0.94184	-1.18;-1.17;-1.17;-1.96;-3.37	5.32	5.32	0.75619	.	0.109437	0.64402	D	0.000005	D	0.94231	0.8148	L	0.53249	1.67	0.36692	D	0.87964	B;B;B;P;B	0.39094	0.391;0.0;0.236;0.659;0.138	P;B;B;B;B	0.48368	0.575;0.004;0.206;0.419;0.037	D	0.95998	0.8991	10	0.59425	D	0.04	-6.6639	19.0004	0.92830	0.0:1.0:0.0:0.0	.	6;531;6;531;531	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	F	531;531;531;6;32	ENSP00000370630:S531F;ENSP00000450832:S531F;ENSP00000351352:S531F;ENSP00000440682:S6F;ENSP00000452450:S32F	ENSP00000351352:S531F	S	+	2	0	SIPA1L1	71155320	1.000000	0.71417	0.726000	0.30738	0.035000	0.12851	4.646000	0.61411	2.497000	0.84241	0.655000	0.94253	TCT	SIPA1L1-001	NOVEL	NAGNAG_splice_site|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000412807.1		+	ENST00000358550.2	Missense_Mutation	SNP	14 : 72085567 - 72085567 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	61
EGFR	1956	broad.mit.edu	37	7	55249101	55249101	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:55249101A>G	ENST00000455089.1	+	19	2521	c.2264A>G	c.(2263-2265)gAc>gGc	p.D755G	EGFR_ENST00000454757.2_Missense_Mutation_p.D747G|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000275493.2_Missense_Mutation_p.D800G|EGFR-AS1_ENST00000442411.1_RNA			P00533	EGFR_HUMAN	epidermal growth factor receptor	800	Protein kinase.		Missing (found in a lung cancer sample).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCTCCTGGACTATGTCCGG	0.602		8	A, O, Mis		glioma, NSCLC	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)		E, O	0													93	81	85			NA	NA	7		NA											NA				55249101		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648	1956	1956			3236	protein-coding gene	gene with protein product	erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)	131550	epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)	ERBB	NA	1505215	Standard	NM_005228	NM_201282	NA	Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000455089.1:c.2264A>G	7.37:g.55249101A>G	ENSP00000415559:p.Asp755Gly	NA	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	37		.	.	.	.	.	.	.	.	.	.	A	26.5	4.740451	0.89573	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.65364	-0.15;-0.15;-0.15	5.92	5.92	0.95590	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74876	0.3774	L	0.49571	1.57	0.80722	D	1	P;D	0.89917	0.596;1.0	P;D	0.83275	0.464;0.996	T	0.77101	-0.2712	10	0.87932	D	0	.	15.1766	0.72916	1.0:0.0:0.0:0.0	.	755;800	Q504U8;P00533	.;EGFR_HUMAN	G	755;670;800;747	ENSP00000415559:D755G;ENSP00000275493:D800G;ENSP00000395243:D747G	ENSP00000275493:D800G	D	+	2	0	EGFR	55216595	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.303000	0.96183	2.255000	0.74692	0.533000	0.62120	GAC	EGFR-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000343056.1		+	ENST00000455089.1	Missense_Mutation	SNP	7 : 55249101 - 55249101 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	412	79
YTHDC1	91746	broad.mit.edu	37	4	69203124	69203124	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69203124C>A	ENST00000344157.4	-	4	839	c.504G>T	c.(502-504)caG>caT	p.Q168H	YTHDC1_ENST00000579690.1_Missense_Mutation_p.Q168H|YTHDC1_ENST00000355665.3_Missense_Mutation_p.Q168H	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	168										NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CCTTAGAAGACTGGCTGGATC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	84	86			NA	NA	4		NA											NA				69203124		2203	4300	6503	SO:0001583	missense			AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896	91746	91746			30626	protein-coding gene	gene with protein product					NA	12368078, 10564280	Standard	NM_133370	XM_005265706	NA	Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.504G>T	4.37:g.69203124C>A	ENSP00000339245:p.Gln168His	NA	Q4W5Q3|Q7Z622|Q8TF35	37	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	C	8.977	0.974390	0.18736	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.31247	1.98;1.5	5.55	-0.464	0.12160	.	0.373282	0.30556	N	0.009378	T	0.07234	0.0183	N	0.01874	-0.695	0.26789	N	0.969434	B;B	0.14438	0.01;0.0	B;B	0.12837	0.008;0.0	T	0.18681	-1.0329	10	0.13108	T	0.6	.	0.0924	0.00041	0.2468:0.2578:0.1973:0.2981	.	168;168	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	H	168	ENSP00000339245:Q168H;ENSP00000347888:Q168H	ENSP00000339245:Q168H	Q	-	3	2	YTHDC1	68885719	0.346000	0.24844	1.000000	0.80357	0.992000	0.81027	-0.417000	0.07088	0.137000	0.18759	0.460000	0.39030	CAG	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251437.1		-	ENST00000344157.4	Missense_Mutation	SNP	4 : 69203124 - 69203124 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	545	107
PLS1	5357	broad.mit.edu	37	3	142430842	142430842	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142430842T>C	ENST00000337777.3	+	16	2096	c.1883T>C	c.(1882-1884)aTa>aCa	p.I628T	PLS1_ENST00000457734.2_Missense_Mutation_p.I628T|PLS1_ENST00000497002.1_Missense_Mutation_p.I628T	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	628						cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						CTGAACAGAATAAAATAATCA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	95	96			NA	NA	3		NA											NA				142430842		2203	4299	6502	SO:0001583	missense			L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756	5357	5357		EF-hand domain containing	9090	protein-coding gene	gene with protein product		602734	plastin 1 (I isoform)		NA	8139549	Standard	NM_002670	NM_002670	NA	Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.1883T>C	3.37:g.142430842T>C	ENSP00000336831:p.Ile628Thr	NA	A8K2Q1|D3DNG3|Q8NEG6	37	CCDS3125.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.486437	0.44147	.	.	ENSG00000120756	ENST00000457734;ENST00000337777;ENST00000497002	T;T;T	0.51071	0.72;0.72;0.72	5.69	5.69	0.88448	.	0.492528	0.25701	N	0.028867	T	0.34687	0.0906	N	0.14661	0.345	0.32581	N	0.528457	B	0.09022	0.002	B	0.08055	0.003	T	0.44574	-0.9319	10	0.87932	D	0	-4.7218	15.9507	0.79835	0.0:0.0:0.0:1.0	.	628	Q14651	PLSI_HUMAN	T	628	ENSP00000387890:I628T;ENSP00000336831:I628T;ENSP00000418700:I628T	ENSP00000336831:I628T	I	+	2	0	PLS1	143913532	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.051000	0.49885	2.178000	0.69098	0.454000	0.30748	ATA	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354435.1		+	ENST00000337777.3	Missense_Mutation	SNP	3 : 142430842 - 142430842 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	616	121
MAST4	375449	broad.mit.edu	37	5	66460375	66460375	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66460375C>T	ENST00000403625.2	+	29	5663	c.5368C>T	c.(5368-5370)Ctg>Ttg	p.L1790L	MAST4_ENST00000261569.7_Silent_p.L1596L|MAST4_ENST00000405643.1_Silent_p.L1611L|MAST4_ENST00000404260.3_Silent_p.L1793L|MAST4_ENST00000403666.1_Silent_p.L1601L	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1793						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CGAGTATAAGCTGGAAGGTAG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	101	99			NA	NA	5		NA											NA				66460375		1911	4132	6043	SO:0001819	synonymous_variant			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020	375449	375449			19037	protein-coding gene	gene with protein product					NA	9205841	Standard		NM_198828	NA	Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.5368C>T	5.37:g.66460375C>T		NA	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	37	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	8.776	0.927128	0.18056	.	.	ENSG00000069020	ENST00000443808	.	.	.	5.24	3.48	0.39840	.	.	.	.	.	T	0.62109	0.2401	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58567	-0.7614	4	.	.	.	-14.6127	11.4824	0.50333	0.0:0.8561:0.0:0.1439	.	.	.	.	V	846	.	.	A	+	2	0	MAST4	66496131	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.782000	0.47758	0.785000	0.33685	-0.136000	0.14681	GCT	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326324.2		+	ENST00000403625.2	Silent	SNP	5 : 66460375 - 66460375 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	571	98
ZBED4	9889	broad.mit.edu	37	22	50278993	50278993	+	Silent	SNP	G	G	A	rs138599627		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50278993G>A	ENST00000216268.5	+	2	2160	c.1683G>A	c.(1681-1683)tcG>tcA	p.S561S		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	NA						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AAAAGACCTCGAAGCTGTGGA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4405	2.1+/-5.4	0,1,2202	72	79	77		1683	-8.3	0.7	22	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous	ZBED4	NM_014838.2		0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077		561/1172	50278993	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426	9889	9889		Zinc fingers, BED-type	20721	protein-coding gene	gene with protein product		612552			NA	23533661	Standard	NM_014838	NM_014838	NA	Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.1683G>A	22.37:g.50278993G>A		NA	B2RZH1|Q1ECU0|Q9UGG8	37	CCDS33677.1																																																																																			ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317408.2		+	ENST00000216268.5	Silent	SNP	22 : 50278993 - 50278993 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	676	15
TET2	54790	broad.mit.edu	37	4	106155474	106155474	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:106155474C>T	ENST00000513237.1	+	3	1235	c.438C>T	c.(436-438)ttC>ttT	p.F146F	TET2_ENST00000380013.4_Silent_p.F125F|TET2_ENST00000540549.1_Silent_p.F125F|TET2_ENST00000394764.1_Silent_p.F125F|TET2_ENST00000413648.2_Silent_p.F125F|TET2_ENST00000545826.1_Silent_p.F125F|TET2_ENST00000305737.2_Silent_p.F125F			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	125					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.F125fs*3(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GACGTAACTTCGGGGTAAGCC	0.418		NA	Mis N, F		MDS									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		4	4q24	54790	tet oncogene family member 2		L	1	Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)											58	57	58			NA	NA	4		NA											NA				106155474		2203	4300	6503	SO:0001819	synonymous_variant			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769	54790	54790			25941	protein-coding gene	gene with protein product		612839	KIAA1546, tet oncogene family member 2	KIAA1546	NA	10997877, 12646957	Standard	NM_017628	NM_017628	NA	Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000513237.1:c.438C>T	4.37:g.106155474C>T		NA	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	37																																																																																				TET2-003	PUTATIVE	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000363308.1		+	ENST00000513237.1	Silent	SNP	4 : 106155474 - 106155474 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	291	13
CCDC85A	114800	broad.mit.edu	37	2	56420234	56420234	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56420234G>T	ENST00000407595.2	+	2	1401	c.899G>T	c.(898-900)aGc>aTc	p.S300I	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	300	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CATCCAGGGAGCAGCCCCGAA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	75	70			NA	NA	2		NA											NA				56420234		2055	4196	6251	SO:0001583	missense			AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813	114800	114800			29400	protein-coding gene	gene with protein product					NA	11572484	Standard		NM_001080433	NA	Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.899G>T	2.37:g.56420234G>T	ENSP00000384040:p.Ser300Ile	NA		37	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148388	0.37923	.	.	ENSG00000055813	ENST00000407595	T	0.47869	0.83	5.35	4.47	0.54385	.	0.425405	0.29053	N	0.013291	T	0.39009	0.1062	L	0.34521	1.04	0.80722	D	1	P	0.48162	0.906	B	0.41619	0.361	T	0.28902	-1.0029	10	0.49607	T	0.09	-47.9685	14.0689	0.64849	0.073:0.0:0.927:0.0	.	300	Q96PX6	CC85A_HUMAN	I	300	ENSP00000384040:S300I	ENSP00000384040:S300I	S	+	2	0	CCDC85A	56273738	1.000000	0.71417	0.993000	0.49108	0.642000	0.38348	5.460000	0.66691	1.260000	0.44134	0.591000	0.81541	AGC	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324993.1		+	ENST00000407595.2	Missense_Mutation	SNP	2 : 56420234 - 56420234 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	708	43
CACNA2D3	55799	broad.mit.edu	37	3	55107828	55107828	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:55107828G>A	ENST00000474759.1	+	37	3173	c.3125G>A	c.(3124-3126)cGt>cAt	p.R1042H	CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.R1042H|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R1042H|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R948H	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	1042						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AAGTGTGAACGTCTAAAGGCC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	86	86			NA	NA	3		NA											NA				55107828		1901	4127	6028	SO:0001583	missense			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445	55799	55799		Calcium channel subunits	15460	protein-coding gene	gene with protein product		606399			NA	11245980	Standard		XM_005265318	NA	Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.3125G>A	3.37:g.55107828G>A	ENSP00000419101:p.Arg1042His	NA	B2RPL6|Q9NY16|Q9NY18	37	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	G	32	5.190546	0.94923	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624	D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.89908	0.6851	M	0.66378	2.025	0.48236	D	0.999618	D	0.89917	1.0	D	0.91635	0.999	D	0.87183	0.2229	10	0.27082	T	0.32	.	18.0391	0.89314	0.0:0.0:1.0:0.0	.	1042	Q8IZS8	CA2D3_HUMAN	H	1042;1042;1042;948;949	ENSP00000389506:R1042H;ENSP00000419101:R1042H;ENSP00000288197:R1042H;ENSP00000417279:R948H	ENSP00000288197:R1042H	R	+	2	0	CACNA2D3	55082868	1.000000	0.71417	0.942000	0.38095	0.989000	0.77384	9.444000	0.97578	2.694000	0.91930	0.637000	0.83480	CGT	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351402.1		+	ENST00000474759.1	Missense_Mutation	SNP	3 : 55107828 - 55107828 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	150	27
RIF1	55183	broad.mit.edu	37	2	152320230	152320230	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152320230T>C	ENST00000243326.5	+	29	4679	c.4196T>C	c.(4195-4197)gTa>gCa	p.V1399A	RIF1_ENST00000444746.2_Missense_Mutation_p.V1399A|RIF1_ENST00000430328.2_Missense_Mutation_p.V1399A|RIF1_ENST00000428287.2_Missense_Mutation_p.V1399A|RIF1_ENST00000453091.2_Missense_Mutation_p.V1399A			Q5UIP0	RIF1_HUMAN	replication timing regulatory factor 1	NA					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GATCAAATGGTAAATGAGGAT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	92	91			NA	NA	2		NA											NA				152320230		2203	4300	6503	SO:0001583	missense			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345	55183	55183			23207	protein-coding gene	gene with protein product		608952	RAP1 interacting factor homolog (yeast)		NA	15342490, 15042697, 22850674	Standard		NM_018151	NA	Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.4196T>C	2.37:g.152320230T>C	ENSP00000243326:p.Val1399Ala	NA	A6NC27|C9JBR1|Q5H9R3|Q5UIP2|Q66YK6|Q6PRU2|Q8TE94|Q99772|Q9H830|Q9H9B9|Q9NVP5|Q9Y4R4	37	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	T	4.390	0.071927	0.08436	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.31	2.89	0.33648	.	1.118960	0.06579	N	0.749939	T	0.26304	0.0642	L	0.56769	1.78	0.09310	N	1	B;B	0.26081	0.087;0.141	B;B	0.24006	0.022;0.05	T	0.33624	-0.9861	10	0.17832	T	0.49	-4.3188	2.2769	0.04104	0.1508:0.1075:0.1553:0.5865	.	1399;1399	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	A	1399	ENSP00000390181:V1399A;ENSP00000414615:V1399A;ENSP00000415691:V1399A;ENSP00000243326:V1399A;ENSP00000416123:V1399A	ENSP00000243326:V1399A	V	+	2	0	RIF1	152028476	0.001000	0.12720	0.841000	0.33234	0.287000	0.27160	0.326000	0.19646	0.820000	0.34516	0.455000	0.32223	GTA	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254836.3		+	ENST00000243326.5	Missense_Mutation	SNP	2 : 152320230 - 152320230 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	649	170
SLC10A4	201780	broad.mit.edu	37	4	48486146	48486146	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48486146G>A	ENST00000273861.4	+	1	787	c.568G>A	c.(568-570)Gtt>Att	p.V190I		NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	190						integral to membrane	bile acid:sodium symporter activity	p.V190L(1)		central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						GTCCCTGCTGGTTGACGGCGA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	ovary(1)											54	48	50			NA	NA	4		NA											NA				48486146		2203	4300	6503	SO:0001583	missense			BC012048	CCDS3482.1	4p12	2013-07-18	2013-07-18		ENSG00000145248	ENSG00000145248	201780	201780		Solute carriers	22980	protein-coding gene	gene with protein product					NA		Standard	NM_152679	NM_152679	NA	Approved	MGC29802	uc003gyc.2	Q96EP9	OTTHUMG00000102092	ENST00000273861.4:c.568G>A	4.37:g.48486146G>A	ENSP00000273861:p.Val190Ile	NA	Q8WUZ2	37	CCDS3482.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953974	0.73902	.	.	ENSG00000145248	ENST00000273861	T	0.11604	2.76	5.83	4.99	0.66335	.	0.111035	0.64402	D	0.000011	T	0.20170	0.0485	M	0.62723	1.935	0.44976	D	0.997994	P	0.41710	0.76	P	0.45538	0.484	T	0.00855	-1.1539	10	0.54805	T	0.06	-23.9258	17.0391	0.86483	0.0:0.1272:0.8728:0.0	.	190	Q96EP9	NTCP4_HUMAN	I	190	ENSP00000273861:V190I	ENSP00000273861:V190I	V	+	1	0	SLC10A4	48180903	1.000000	0.71417	0.995000	0.50966	0.815000	0.46073	6.366000	0.73095	1.460000	0.47911	0.491000	0.48974	GTT	SLC10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219926.3		+	ENST00000273861.4	Missense_Mutation	SNP	4 : 48486146 - 48486146 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	409	80
PARP4	143	broad.mit.edu	37	13	25068788	25068788	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25068788G>A	ENST00000381989.3	-	7	769	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	222					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TGTTTCTTCAGTTCTTCAATG	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	147	148			NA	NA	13		NA											NA				25068788		2203	4300	6503	SO:0001819	synonymous_variant			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699	143	143		Poly (ADP-ribose) polymerases	271	protein-coding gene	gene with protein product	von Willebrand factor A domain containing 5C	607519	ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1	ADPRTL1	NA	10644454	Standard	NM_006437	NM_006437	NA	Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.664C>T	13.37:g.25068788G>A		NA	O75903|Q14682|Q5QNZ9|Q9H1M6	37	CCDS9307.1																																																																																			PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044189.1		-	ENST00000381989.3	Silent	SNP	13 : 25068788 - 25068788 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	302	76
SORD	6652	broad.mit.edu	37	15	45361160	45361160	+	Silent	SNP	C	C	T	rs144635546	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45361160C>T	ENST00000267814.9	+	7	876	c.696C>T	c.(694-696)atC>atT	p.I232I	SORD_ENST00000558580.1_Silent_p.I211I	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	232					fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	NADH(DB00157)	CTCAGGAAATCGCCAGGAAAG	0.557		NA											C	2	9e-04	NA	0.01	2184	NA	0.9993	,	,	NA	4e-04	NA	NA	NA	0.0013	0.7931	LOWCOV	NA	NA	0.0074	SNP								NA				0								C		0,4392		0,0,2196	24	27	26		696	-9.6	0	15	dbSNP_134	26	22,8570		0,22,4274	yes	coding-synonymous	SORD	NM_003104.5		0,22,6470	TT,TC,CC	NA	0.2561,0.0,0.1694		232/358	45361160	22,12962	2196	4296	6492	SO:0001819	synonymous_variant				CCDS10116.1	15q15-q21.1	2012-10-02			ENSG00000140263	ENSG00000140263	6652	6652	1.1.1.14		11184	protein-coding gene	gene with protein product		182500			NA	7782086	Standard		NM_003104	NA	Approved		uc001zul.4	Q00796	OTTHUMG00000131265	ENST00000267814.9:c.696C>T	15.37:g.45361160C>T		NA	B2R655|Q16682|Q9UMD6	37	CCDS10116.1																																																																																			SORD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254033.3		+	ENST00000267814.9	Silent	SNP	15 : 45361160 - 45361160 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	74	10
GYS1	2997	broad.mit.edu	37	19	49473039	49473039	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49473039G>A	ENST00000263276.6	-	14	1888	c.1691C>T	c.(1690-1692)gCg>gTg	p.A564V	GYS1_ENST00000544287.1_Missense_Mutation_p.A261V|GYS1_ENST00000323798.3_Missense_Mutation_p.A628V|GYS1_ENST00000541188.1_Missense_Mutation_p.A548V	NM_001161587.1	NP_001155059.1	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	628					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CACCGCATCCGCCTCGTTGGG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	63	58	60		1691,1883	3.3	0.7	19		60	0,8600		0,0,4300	no	missense,missense	GYS1	NM_001161587.1,NM_002103.4	64,64	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	benign,benign	564/674,628/738	49473039	1,13005	2203	4300	6503	SO:0001583	missense				CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2997	2997	2.4.1.11	Glycosyltransferase group 1 domain containing	4706	protein-coding gene	gene with protein product		138570		GYS	NA		Standard	NM_002103	NM_002103	NA	Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000263276.6:c.1691C>T	19.37:g.49473039G>A	ENSP00000263276:p.Ala564Val	NA		37	CCDS54292.1	.	.	.	.	.	.	.	.	.	.	G	9.037	0.988775	0.18966	2.27E-4	0.0	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188;ENST00000544287	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.43	3.3	0.37823	.	0.246452	0.40222	N	0.001156	T	0.32526	0.0832	N	0.08118	0	0.80722	D	1	P;P;P	0.41929	0.765;0.529;0.637	B;B;B	0.34301	0.179;0.102;0.179	T	0.10847	-1.0612	10	0.11485	T	0.65	-7.818	9.6035	0.39619	0.1748:0.0:0.8252:0.0	.	548;564;628	B7Z806;Q9BTT9;P13807	.;.;GYS1_HUMAN	V	628;564;548;261	ENSP00000317904:A628V;ENSP00000263276:A564V;ENSP00000437922:A548V;ENSP00000444004:A261V	ENSP00000263276:A564V	A	-	2	0	GYS1	54164851	0.932000	0.31603	0.665000	0.29768	0.152000	0.21847	3.622000	0.54217	0.767000	0.33267	-0.140000	0.14226	GCG	GYS1-006	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319796.1		-	ENST00000263276.6	Missense_Mutation	SNP	19 : 49473039 - 49473039 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	339	62
OR2L13	284521	broad.mit.edu	37	1	248263566	248263566	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248263566C>T	ENST00000358120.2	+	2	1034	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L	OR2L13_ENST00000366478.2_Silent_p.L297L			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TAAGGAAGTCCTGGGGGCTAT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	55	54			NA	NA	1		NA											NA				248263566		2203	4300	6503	SO:0001819	synonymous_variant			BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071	284521	284521		GPCR / Class A : Olfactory receptors	19578	protein-coding gene	gene with protein product				OR2L14	NA		Standard	NM_175911	NM_175911	NA	Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.889C>T	1.37:g.248263566C>T		NA	Q5VUR5	37	CCDS1637.1																																																																																			OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097342.1		+	ENST00000358120.2	Silent	SNP	1 : 248263566 - 248263566 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	334	11
MYH7	4625	broad.mit.edu	37	14	23886420	23886420	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23886420G>T	ENST00000355349.3	-	32	4623	c.4461C>A	c.(4459-4461)gcC>gcA	p.A1487A		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1487					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ACTCCTCATAGGCGTTCTTGA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	125	123			NA	NA	14		NA											NA				23886420		2203	4300	6503	SO:0001819	synonymous_variant			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054	4625	4625		Myosins / Myosin superfamily : Class II	7577	protein-coding gene	gene with protein product		160760	myopathy, distal 1, myosin, heavy polypeptide 7, cardiac muscle, beta	CMH1, MPD1	NA	2494889, 8483915, 15322983	Standard	NM_000257	XM_005267696	NA	Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4461C>A	14.37:g.23886420G>T		NA	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	37	CCDS9601.1																																																																																			MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071798.3		-	ENST00000355349.3	Silent	SNP	14 : 23886420 - 23886420 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1000	159
MYO16	23026	broad.mit.edu	37	13	109475617	109475617	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:109475617C>T	ENST00000357550.2	+	8	1063	c.1022C>T	c.(1021-1023)tCg>tTg	p.S341L	MYO16_ENST00000251041.5_Missense_Mutation_p.S341L|MYO16_ENST00000356711.2_Missense_Mutation_p.S341L	NM_001198950.1	NP_001185879.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	341					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.S341L(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCCGTACTGTCGAGTAAGCTG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											144	146	145			NA	NA	13		NA											NA				109475617		2203	4300	6503	SO:0001583	missense				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515	23026	23026		Myosins / Myosin superfamily : Class XVI, Ankyrin repeat domain containing	29822	protein-coding gene	gene with protein product	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3, protein phosphatase 1, regulatory subunit 107	615479			NA	11588169, 17029291, 21946561	Standard	NM_015011	NM_001198950	NA	Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.1022C>T	13.37:g.109475617C>T	ENSP00000350160:p.Ser341Leu	NA	A6H8Y0|A8MTX3|Q5VYX4|Q5VYX5|Q5VYX6|Q6ZS13|Q8N3C2|Q8N948	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902418	0.33628	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857	T;T;T	0.80824	-1.42;-1.42;-1.17	5.35	5.35	0.76521	.	0.181955	0.26432	U	0.024419	T	0.75729	0.3889	L	0.57536	1.79	0.80722	D	1	P;B	0.37122	0.583;0.398	B;B	0.30401	0.115;0.062	T	0.75459	-0.3310	9	.	.	.	.	16.2063	0.82133	0.0:1.0:0.0:0.0	.	341;341	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	L	341;341;341;341;129	ENSP00000349145:S341L;ENSP00000350160:S341L;ENSP00000251041:S341L	.	S	+	2	0	MYO16	108273618	0.923000	0.31300	0.339000	0.25562	0.078000	0.17371	3.263000	0.51546	2.499000	0.84300	0.585000	0.79938	TCG	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045746.1		+	ENST00000357550.2	Missense_Mutation	SNP	13 : 109475617 - 109475617 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	777	131
NUPL2	11097	broad.mit.edu	37	7	23236306	23236306	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23236306C>A	ENST00000258742.5	+	5	789	c.530C>A	c.(529-531)tCt>tAt	p.S177Y		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	177					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGCTAAATTCTGTCCAACGT	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	83	83			NA	NA	7		NA											NA				23236306		2203	4297	6500	SO:0001583	missense			U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243	11097	11097			17010	protein-coding gene	gene with protein product	nucleoporin-like protein 1				NA	10358091, 9450185	Standard	NM_007342	NM_007342	NA	Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.530C>A	7.37:g.23236306C>A	ENSP00000258742:p.Ser177Tyr	NA	A4D143|B4DP42|Q49AE7|Q9BS49	37	CCDS5379.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253795	0.59212	.	.	ENSG00000136243	ENST00000258742;ENST00000413919	T;T	0.44482	0.92;0.92	5.63	4.75	0.60458	.	0.229608	0.45361	D	0.000362	T	0.58293	0.2112	M	0.63843	1.955	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.55140	-0.8187	10	0.39692	T	0.17	-17.8451	12.7138	0.57103	0.0:0.9202:0.0:0.0798	.	177	O15504	NUPL2_HUMAN	Y	177	ENSP00000258742:S177Y;ENSP00000401475:S177Y	ENSP00000258742:S177Y	S	+	2	0	NUPL2	23202831	0.931000	0.31567	0.957000	0.39632	0.492000	0.33523	1.810000	0.38932	2.641000	0.89580	0.591000	0.81541	TCT	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214017.2		+	ENST00000258742.5	Missense_Mutation	SNP	7 : 23236306 - 23236306 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	57
MYADM	91663	broad.mit.edu	37	19	54377236	54377236	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54377236C>T	ENST00000391769.2	+	3	733	c.453C>T	c.(451-453)taC>taT	p.Y151Y	MYADM_ENST00000391768.2_Silent_p.Y151Y|MYADM_ENST00000391770.4_Silent_p.Y151Y|MYADM_ENST00000391771.1_Silent_p.Y151Y|MYADM_ENST00000336967.3_Silent_p.Y151Y	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	151	MARVEL 1.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		GTGTGGCTTACGCCACCGAAG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,,,	0,4406		0,0,2203	54	55	54		453,453,453,453,453	-5.3	0.1	19		54	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MYADM	NM_001020818.1,NM_001020819.1,NM_001020820.1,NM_001020821.1,NM_138373.3	,,,,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,,,,	151/323,151/323,151/323,151/323,151/323	54377236	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820	91663	91663			7544	protein-coding gene	gene with protein product		609959			NA	10733104, 12075932	Standard	NM_138373	NM_001020818	NA	Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.453C>T	19.37:g.54377236C>T		NA	B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	37	CCDS12866.1																																																																																			MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000134337.1		+	ENST00000391769.2	Silent	SNP	19 : 54377236 - 54377236 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	519	80
DENND4B	9909	broad.mit.edu	37	1	153905988	153905988	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153905988G>A	ENST00000361217.4	-	20	3719	c.3301C>T	c.(3301-3303)Cgg>Tgg	p.R1101W		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1101										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGGCGCTCCCGGGGGTGCAGA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG	2,3794		0,2,1896	14	16	15		3301	4.3	1	1		15	0,8062		0,0,4031	no	missense	DENND4B	NM_014856.2	101	0,2,5927	AA,AG,GG	NA	0.0,0.0527,0.0169	probably-damaging	1101/1497	153905988	2,11856	1898	4031	5929	SO:0001583	missense			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837	9909	9909		DENN/MADD domain containing	29044	protein-coding gene	gene with protein product			KIAA0476	KIAA0476	NA	9455484, 12906859	Standard	XM_375806	NM_014856	NA	Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.3301C>T	1.37:g.153905988G>A	ENSP00000354597:p.Arg1101Trp	NA	Q5T4K0	37	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520513	0.64747	5.27E-4	0.0	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.08458	3.18;3.09	5.17	4.26	0.50523	.	0.604283	0.16522	N	0.210745	T	0.03178	0.0093	N	0.14661	0.345	0.32359	N	0.557483	D	0.69078	0.997	P	0.47603	0.551	T	0.35624	-0.9781	10	0.72032	D	0.01	-25.4046	10.9546	0.47349	0.0877:0.0:0.9123:0.0	.	1101	O75064	DEN4B_HUMAN	W	1101;1112	ENSP00000354597:R1101W;ENSP00000357635:R1112W	ENSP00000354597:R1101W	R	-	1	2	DENND4B	152172612	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.929000	0.48916	1.416000	0.47057	0.455000	0.32223	CGG	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090278.2		-	ENST00000361217.4	Missense_Mutation	SNP	1 : 153905988 - 153905988 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	235	57
YY1AP1	55249	broad.mit.edu	37	1	155629498	155629498	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155629498C>T	ENST00000359205.5	-	10	2428	c.2170G>A	c.(2170-2172)Gtc>Atc	p.V724I	YY1AP1_ENST00000368340.5_Missense_Mutation_p.V853I|YY1AP1_ENST00000368330.2_Missense_Mutation_p.V735I|YY1AP1_ENST00000404643.1_Missense_Mutation_p.V715I|YY1AP1_ENST00000361831.5_Missense_Mutation_p.V724I|YY1AP1_ENST00000355499.4_Missense_Mutation_p.V735I|YY1AP1_ENST00000407221.1_Missense_Mutation_p.V704I|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000535662.1_Missense_Mutation_p.V581I|YY1AP1_ENST00000347088.5_Missense_Mutation_p.V735I|YY1AP1_ENST00000368339.5_Missense_Mutation_p.V873I|YY1AP1_ENST00000295566.4_Missense_Mutation_p.V781I|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000311573.5_Missense_Mutation_p.V704I	NM_001198900.1	NP_001185829.1			YY1 associated protein 1	NA										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TCCATCTTGACAACTTCCTCT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	128	125			NA	NA	1		NA											NA				155629498		2203	4300	6503	SO:0001583	missense			BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374	55249	55249			30935	protein-coding gene	gene with protein product		607860			NA	11710830	Standard	NM_139118	NM_139119	NA	Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000359205.5:c.2170G>A	1.37:g.155629498C>T	ENSP00000352134:p.Val724Ile	NA		37		.	.	.	.	.	.	.	.	.	.	-	16.30	3.084995	0.55861	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662	T;T;T;T;T;T;T;T;T;T;T;T	0.36699	1.32;1.32;1.39;1.32;1.32;1.3;1.34;1.32;1.39;1.39;1.24;1.4	2.57	2.57	0.30868	.	0.276715	0.30752	N	0.008956	T	0.42966	0.1226	M	0.62723	1.935	0.80722	D	1	B;D;P;D;D	0.69078	0.4;0.996;0.65;0.997;0.996	B;D;P;D;D	0.78314	0.257;0.987;0.558;0.991;0.987	T	0.43048	-0.9415	10	0.62326	D	0.03	.	10.1575	0.42831	0.0:1.0:0.0:0.0	.	873;715;781;735;853	B4DMP2;Q9H869-4;Q9H869;Q9H869-2;Q5VYZ1	.;.;YYAP1_HUMAN;.;.	I	724;735;704;735;724;853;781;735;704;715;873;581	ENSP00000352134:V724I;ENSP00000347686:V735I;ENSP00000311138:V704I;ENSP00000316079:V735I;ENSP00000355298:V724I;ENSP00000357324:V853I;ENSP00000295566:V781I;ENSP00000357314:V735I;ENSP00000385791:V704I;ENSP00000385390:V715I;ENSP00000357323:V873I;ENSP00000437926:V581I	ENSP00000295566:V781I	V	-	1	0	YY1AP1	153896122	0.411000	0.25384	0.565000	0.28409	0.057000	0.15508	1.943000	0.40253	1.424000	0.47217	0.313000	0.20887	GTC	YY1AP1-027	PUTATIVE	alternative_5_UTR|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000086021.2		-	ENST00000359205.5	Missense_Mutation	SNP	1 : 155629498 - 155629498 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	920	129
GIGYF2	26058	broad.mit.edu	37	2	233715097	233715097	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233715097C>T	ENST00000409547.1	+	30	4121	c.3810C>T	c.(3808-3810)gtC>gtT	p.V1270V	GIGYF2_ENST00000373563.4_Silent_p.V1270V|GIGYF2_ENST00000373566.3_Silent_p.V1292V|GIGYF2_ENST00000409451.3_Silent_p.V1291V|GIGYF2_ENST00000409480.1_Silent_p.V1292V|GIGYF2_ENST00000409196.3_Silent_p.V1264V	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1270					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AGAAGATGGTCCGAGCAGATC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	134	141			NA	NA	2		NA											NA				233715097		2203	4300	6503	SO:0001819	synonymous_variant			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120	26058	26058		Trinucleotide (CAG) repeat containing	11960	protein-coding gene	gene with protein product	GYF domain containing 2	612003	PERQ amino acid rich, with GYF domain 2, PERQ amino acid rich, with GYF domain 3, trinucleotide repeat containing 15, Parkinson disease (autosomal recessive, early onset) 11	PERQ2, PERQ3, TNRC15, PARK11	NA	9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_001103146	NM_015575	NA	Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.3810C>T	2.37:g.233715097C>T		NA	O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	37	CCDS33401.1																																																																																			GIGYF2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330316.2		+	ENST00000409547.1	Silent	SNP	2 : 233715097 - 233715097 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	319	14
ZNF627	199692	broad.mit.edu	37	19	11727652	11727652	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11727652G>T	ENST00000361113.5	+	4	542	c.334G>T	c.(334-336)Ggt>Tgt	p.G112C	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						AGTTGGCATGGGTCCTTCATC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(112;173 1614 10731 17751 23322)							NA				0													158	159	159			NA	NA	19		NA											NA				11727652		2142	4269	6411	SO:0001583	missense			AK074846	CCDS42502.1	19p13.2	2013-01-08				ENSG00000198551	199692	199692		Zinc fingers, C2H2-type, -	30570	protein-coding gene	gene with protein product		612248			NA	12477932	Standard	NM_145295	NM_145295	NA	Approved	FLJ90365	uc002msk.2	Q7L945		ENST00000361113.5:c.334G>T	19.37:g.11727652G>T	ENSP00000354414:p.Gly112Cys	NA	O14846|Q4KMP9|Q6NT81|Q9BRG4	37	CCDS42502.1	.	.	.	.	.	.	.	.	.	.	g	8.558	0.877179	0.17395	.	.	ENSG00000198551	ENST00000361113	T	0.14893	2.47	1.36	-2.73	0.05950	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.07954	0.0199	N	0.17594	0.5	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.32719	-0.9896	9	0.36615	T	0.2	.	2.9306	0.05799	0.0:0.3208:0.2676:0.4116	.	112	Q7L945	ZN627_HUMAN	C	112	ENSP00000354414:G112C	ENSP00000354414:G112C	G	+	1	0	ZNF627	11588652	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-4.992000	0.00162	-0.782000	0.04541	0.313000	0.20887	GGT	ZNF627-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458875.1		+	ENST00000361113.5	Missense_Mutation	SNP	19 : 11727652 - 11727652 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	758	102
STAB1	23166	broad.mit.edu	37	3	52539356	52539356	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52539356G>A	ENST00000321725.6	+	14	1616	c.1540G>A	c.(1540-1542)Gcc>Acc	p.A514T		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	514	FAS1 2.				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)		ACAGATCCTCGCCTCTACCGA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	50	50			NA	NA	3		NA											NA				52539356		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.1540G>A	3.37:g.52539356G>A	ENSP00000312946:p.Ala514Thr	NA	A7E297|Q8IUH0|Q8IUH1|Q93072	37	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134423	0.56828	.	.	ENSG00000010327	ENST00000321725	T	0.72394	-0.65	5.36	4.47	0.54385	FAS1 domain (3);	0.220722	0.36740	N	0.002428	T	0.71290	0.3322	L	0.50993	1.605	0.37281	D	0.90782	B;D	0.61697	0.394;0.99	B;P	0.51297	0.078;0.665	T	0.73895	-0.3838	10	0.34782	T	0.22	.	12.5123	0.56013	0.0:0.0:0.8324:0.1676	.	514;514	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	T	514	ENSP00000312946:A514T	ENSP00000312946:A514T	A	+	1	0	STAB1	52514396	0.997000	0.39634	0.855000	0.33649	0.462000	0.32619	3.469000	0.53093	1.236000	0.43740	0.585000	0.79938	GCC	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351380.2		+	ENST00000321725.6	Missense_Mutation	SNP	3 : 52539356 - 52539356 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	199	41
ELFN2	114794	broad.mit.edu	37	22	37769443	37769443	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37769443C>T	ENST00000402918.2	-	3	2917	c.2132G>A	c.(2131-2133)aGc>aAc	p.S711N	RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	NA						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GGCGGGAAAGCTGTGCCGGTG	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	25	25			NA	NA	22		NA											NA				37769443		2192	4297	6489	SO:0001583	missense			BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897	114794	114794		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Fibronectin type III domain containing	29396	protein-coding gene	gene with protein product			leucine rich repeat containing 62, extracellular leucine-rich repeat and fibronectin type III containing 2, extracellular leucine-rich repeat and fibronectin type III domain containing 2, protein phosphatase 1, regulatory subunit 29	LRRC62, PPP1R29	NA	17868438	Standard	NM_052906	XR_244427	NA	Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.2132G>A	22.37:g.37769443C>T	ENSP00000385277:p.Ser711Asn	NA	Q96PY3	37	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303815	0.81136	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.59772	0.24;0.24	4.93	3.88	0.44766	.	0.226336	0.47093	D	0.000245	T	0.70159	0.3192	L	0.60455	1.87	0.52501	D	0.999955	D	0.89917	1.0	D	0.87578	0.998	T	0.73139	-0.4077	10	0.87932	D	0	-38.5943	11.9074	0.52719	0.0:0.5396:0.4604:0.0	.	711	Q5R3F8	PPR29_HUMAN	N	711	ENSP00000300147:S711N;ENSP00000385277:S711N	ENSP00000300147:S711N	S	-	2	0	ELFN2	36099389	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.652000	0.67959	2.265000	0.75225	0.561000	0.74099	AGC	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318900.2		-	ENST00000402918.2	Missense_Mutation	SNP	22 : 37769443 - 37769443 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	92	16
NR1H3	10062	broad.mit.edu	37	11	47282040	47282040	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47282040G>A	ENST00000467728.1	+	3	1551	c.313G>A	c.(313-315)Gcc>Acc	p.A105T	NR1H3_ENST00000481889.2_Missense_Mutation_p.A60T|NR1H3_ENST00000405853.3_Missense_Mutation_p.A105T|NR1H3_ENST00000441012.2_Missense_Mutation_p.A105T|NR1H3_ENST00000527949.1_Missense_Mutation_p.A14T|NR1H3_ENST00000405576.1_Missense_Mutation_p.A60T|NR1H3_ENST00000407404.1_Missense_Mutation_p.A105T|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000395397.3_Missense_Mutation_p.A60T			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	105					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						TGGGGACAAGGCCTCGGGCTT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	66	69			NA	NA	11		NA											NA				47282040		2201	4298	6499	SO:0001583	missense			U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434	10062	10062		Nuclear hormone receptors	7966	protein-coding gene	gene with protein product	liver X receptor-alpha	602423			NA	8621574, 7744246	Standard		NM_005693	NA	Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.313G>A	11.37:g.47282040G>A	ENSP00000420656:p.Ala105Thr	NA	A8K3J9|D3DQR1|Q96H87	37	CCDS7929.1	.	.	.	.	.	.	.	.	.	.	G	33	5.223251	0.95139	.	.	ENSG00000025434	ENST00000395397;ENST00000405576;ENST00000481889;ENST00000436778;ENST00000407404;ENST00000444396;ENST00000412937;ENST00000449369;ENST00000441012;ENST00000436029;ENST00000467728;ENST00000405853;ENST00000527949	D;D;D;D;D;D;D;D;D;D;D;D;D	0.98090	-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71	5.35	5.35	0.76521	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.98848	0.9611	M	0.85373	2.75	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;1.0;1.0	D	0.99782	1.1028	10	0.87932	D	0	.	19.4242	0.94734	0.0:0.0:1.0:0.0	.	111;60;105;60;105	B4DXU5;B5MBY7;Q13133;E9PLL4;Q13133-2	.;.;NR1H3_HUMAN;.;.	T	60;60;60;105;105;105;60;105;105;105;105;105;14	ENSP00000378793:A60T;ENSP00000385073:A60T;ENSP00000433271:A60T;ENSP00000403798:A105T;ENSP00000385801:A105T;ENSP00000391005:A105T;ENSP00000412636:A60T;ENSP00000415591:A105T;ENSP00000387946:A105T;ENSP00000403696:A105T;ENSP00000420656:A105T;ENSP00000384745:A105T;ENSP00000432073:A14T	ENSP00000378793:A60T	A	+	1	0	NR1H3	47238616	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	9.416000	0.97383	2.653000	0.90120	0.462000	0.41574	GCC	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319214.3		+	ENST00000467728.1	Missense_Mutation	SNP	11 : 47282040 - 47282040 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	441	82
PAPPA2	60676	broad.mit.edu	37	1	176526268	176526268	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176526268G>A	ENST00000367662.3	+	2	1974	c.810G>A	c.(808-810)gaG>gaA	p.E270E	PAPPA2_ENST00000367661.3_Silent_p.E270E	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	270					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGAGGCGGGAGCGGCTGCTGC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	40	40			NA	NA	1		NA											NA				176526268		1924	4144	6068	SO:0001819	synonymous_variant			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183	60676	60676			14615	protein-coding gene	gene with protein product			placenta-specific 3	PLAC3	NA	11018262, 11264294	Standard		NM_021936	NA	Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.810G>A	1.37:g.176526268G>A		NA	Q96PH7|Q96PH8|Q9H4C9	37	CCDS41438.1																																																																																			PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084763.1		+	ENST00000367662.3	Silent	SNP	1 : 176526268 - 176526268 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	290	67
SMTN	6525	broad.mit.edu	37	22	31484516	31484516	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31484516C>A	ENST00000358743.1	+	4	436	c.218C>A	c.(217-219)gCt>gAt	p.A73D	SMTN_ENST00000333137.7_Missense_Mutation_p.A73D|SMTN_ENST00000347557.2_Missense_Mutation_p.A73D|SMTN_ENST00000475548.1_3'UTR	NM_134270.2	NP_599032.2	P53814	SMTN_HUMAN	smoothelin	73					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						CAGCGGGAAGCTGAGCAGCGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	73	71			NA	NA	22		NA											NA				31484516		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.218C>A	22.37:g.31484516C>A	ENSP00000351593:p.Ala73Asp	NA	O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	37	CCDS13887.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.18|18.18	3.567316|3.567316	0.65651|0.65651	.|.	.|.	ENSG00000183963|ENSG00000183963	ENST00000426927;ENST00000440425;ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000431481|ENST00000438223	T;T;T;T;T;T|.	0.46819|.	0.86;0.88;0.95;0.95;0.95;0.95|.	4.79|4.79	3.66|3.66	0.41972|0.41972	.|.	0.000000|.	0.37761|.	N|.	0.001950|.	T|T	0.40119|0.40119	0.1104|0.1104	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	D;P;D;D;P;P|.	0.89917|.	0.999;0.906;1.0;1.0;0.906;0.939|.	D;P;D;D;P;P|.	0.87578|.	0.997;0.628;0.998;0.998;0.628;0.494|.	T|T	0.17228|0.17228	-1.0376|-1.0376	10|5	0.44086|.	T|.	0.13|.	-11.835|-11.835	12.1168|12.1168	0.53870|0.53870	0.251:0.749:0.0:0.0|0.251:0.749:0.0:0.0	.|.	129;127;65;73;73;73|.	E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5|.	.;.;.;.;SMTN_HUMAN;.|.	D|R	127;127;73;73;73;73;65;65|127	ENSP00000399432:A127D;ENSP00000401341:A127D;ENSP00000351593:A73D;ENSP00000328635:A73D;ENSP00000329532:A73D;ENSP00000394637:A65D|.	ENSP00000329393:A73D|.	A|S	+|+	2|3	0|2	SMTN|SMTN	29814516|29814516	0.705000|0.705000	0.27846|0.27846	0.978000|0.978000	0.43139|0.43139	0.991000|0.991000	0.79684|0.79684	1.138000|1.138000	0.31491|0.31491	2.384000|2.384000	0.81235|0.81235	0.655000|0.655000	0.94253|0.94253	GCT|AGC	SMTN-003	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321768.1		+	ENST00000358743.1	Missense_Mutation	SNP	22 : 31484516 - 31484516 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	896	80
ANKRD34A	284615	broad.mit.edu	37	1	145474082	145474082	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145474082C>A	ENST00000323397.4	+	4	2047	c.754C>A	c.(754-756)Cta>Ata	p.L252I		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	252	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCCCTGGGGCCTAGTGGCCCC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	63	60			NA	NA	1		NA											NA				145474082		2203	4300	6503	SO:0001583	missense			AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031	284615	284615		Ankyrin repeat domain containing	27639	protein-coding gene	gene with protein product			ankyrin repeat domain 34	ANKRD34	NA		Standard		NM_001039888	NA	Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.754C>A	1.37:g.145474082C>A	ENSP00000314103:p.Leu252Ile	NA	B3KSU3	37	CCDS30829.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.834704	0.32421	.	.	ENSG00000181039	ENST00000323397	T	0.76448	-1.02	4.94	4.94	0.65067	.	0.000000	0.64402	D	0.000016	T	0.77765	0.4179	L	0.49126	1.545	0.31274	N	0.691455	D	0.57571	0.98	D	0.73708	0.981	T	0.76192	-0.3049	10	0.59425	D	0.04	-7.7467	9.2101	0.37313	0.0:0.9037:0.0:0.0963	.	252	Q69YU3	AN34A_HUMAN	I	252	ENSP00000314103:L252I	ENSP00000314103:L252I	L	+	1	2	ANKRD34A	144185439	0.977000	0.34250	1.000000	0.80357	0.956000	0.61745	2.368000	0.44222	2.585000	0.87301	0.574000	0.79327	CTA	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000038512.1		+	ENST00000323397.4	Missense_Mutation	SNP	1 : 145474082 - 145474082 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	950	132
OR2Z1	284383	broad.mit.edu	37	19	8841551	8841551	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8841551G>A	ENST00000324060.2	+	1	236	c.161G>A	c.(160-162)cGg>cAg	p.R54Q		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTGGACTCCCGGCTCCATACA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	141	147			NA	NA	19		NA											NA				8841551		2203	4300	6503	SO:0001583	missense			AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733	284383	284383		GPCR / Class A : Olfactory receptors	15391	protein-coding gene	gene with protein product			olfactory receptor, family 2, subfamily Z, member 2	OR2Z2	NA		Standard		NM_001004699	NA	Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.161G>A	19.37:g.8841551G>A	ENSP00000316284:p.Arg54Gln	NA	B9EH50|Q6IFK0|Q96R25	37	CCDS32895.1	.	.	.	.	.	.	.	.	.	.	G	5.987	0.366061	0.11352	.	.	ENSG00000181733	ENST00000324060	T	0.01119	5.31	4.23	3.16	0.36331	GPCR, rhodopsin-like superfamily (1);	0.252434	0.26231	N	0.025561	T	0.00875	0.0029	N	0.13299	0.325	0.09310	N	1	B	0.22604	0.072	B	0.17433	0.018	T	0.49952	-0.8884	10	0.26408	T	0.33	.	9.3472	0.38115	0.1149:0.0:0.8851:0.0	.	54	Q8NG97	OR2Z1_HUMAN	Q	54	ENSP00000316284:R54Q	ENSP00000316284:R54Q	R	+	2	0	OR2Z1	8702551	0.000000	0.05858	0.229000	0.23960	0.081000	0.17604	-0.176000	0.09811	0.885000	0.36088	0.543000	0.68304	CGG	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459954.1		+	ENST00000324060.2	Missense_Mutation	SNP	19 : 8841551 - 8841551 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	685	134
EDIL3	10085	broad.mit.edu	37	5	83549944	83549944	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:83549944C>A	ENST00000296591.5	-	2	572	c.154G>T	c.(154-156)Gat>Tat	p.D52Y	EDIL3_ENST00000380138.3_Missense_Mutation_p.D52Y	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	52	EGF-like 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GTGAAGCCATCTGGACACTCA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	83	86			NA	NA	5		NA											NA				83549944		2203	4300	6503	SO:0001583	missense			U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176	10085	10085			3173	protein-coding gene	gene with protein product		606018			NA	9420328	Standard	NM_005711	NM_005711	NA	Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.154G>T	5.37:g.83549944C>A	ENSP00000296591:p.Asp52Tyr	NA	B2R763|O43855|Q5D094	37	CCDS4062.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.564227	0.45694	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.92397	-3.03;-3.03	5.61	5.61	0.85477	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.382799	0.21161	N	0.079154	D	0.94155	0.8125	L	0.43923	1.385	0.27100	N	0.962635	B;B	0.29955	0.115;0.263	B;P	0.52514	0.086;0.701	D	0.90169	0.4234	10	0.72032	D	0.01	-12.6903	15.7408	0.77894	0.0:0.8635:0.1365:0.0	.	52;52	O43854-2;O43854	.;EDIL3_HUMAN	Y	52	ENSP00000296591:D52Y;ENSP00000369483:D52Y	ENSP00000296591:D52Y	D	-	1	0	EDIL3	83585700	0.994000	0.37717	0.983000	0.44433	0.948000	0.59901	2.320000	0.43797	2.642000	0.89623	0.650000	0.86243	GAT	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239258.1		-	ENST00000296591.5	Missense_Mutation	SNP	5 : 83549944 - 83549944 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	276	26
B3GAT3	26229	broad.mit.edu	37	11	62384603	62384603	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62384603G>A	ENST00000531383.1	-	3	680	c.474C>T	c.(472-474)gtC>gtT	p.V158V	B3GAT3_ENST00000265471.5_Silent_p.V158V|B3GAT3_ENST00000534026.1_Silent_p.V158V			O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	158					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						TCCGCTGCTCGACACCACGGG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	49	48			NA	NA	11		NA											NA				62384603		2202	4299	6501	SO:0001819	synonymous_variant			AB009598	CCDS8025.1	11q12	2014-07-08	2014-07-08		ENSG00000149541	ENSG00000149541	26229	26229	2.4.1.135	Beta-1,3-glucuronyltransferases	923	protein-coding gene	gene with protein product	glucuronosyltransferase I, galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3	606374	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)		NA	9506957	Standard	NM_012200	NM_012200	NA	Approved	GlcAT-I	uc001ntw.3	O94766	OTTHUMG00000167685	ENST00000531383.1:c.474C>T	11.37:g.62384603G>A		NA	Q96I06|Q9UEP0	37																																																																																				B3GAT3-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000395589.1		-	ENST00000531383.1	Silent	SNP	11 : 62384603 - 62384603 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	415	68
NISCH	11188	broad.mit.edu	37	3	52521711	52521711	+	Missense_Mutation	SNP	G	G	A	rs145748458	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52521711G>A	ENST00000479054.1	+	17	2275	c.2203G>A	c.(2203-2205)Ggc>Agc	p.G735S	NISCH_ENST00000345716.4_Missense_Mutation_p.G735S			Q9Y2I1	NISCH_HUMAN	nischarin	735	Interaction with ITGA5 (By similarity).|Interaction with LIMK (By similarity).|Interaction with PAK1 (By similarity).				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CACCGACTTCGGCATCGCAGT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	SER/GLY	0,4406	2.1+/-5.4	0,0,2203	99	84	89		2203	5.3	1	3	dbSNP_134	89	6,8594	5.0+/-18.6	0,6,4294	yes	missense	NISCH	NM_007184.3	56	0,6,6497	AA,AG,GG	NA	0.0698,0.0,0.0461	benign	735/1505	52521711	6,13000	2203	4300	6503	SO:0001583	missense			AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322	11188	11188			18006	protein-coding gene	gene with protein product	imidazoline receptor candidate, I-1 receptor candidate protein, imidazoline receptor antisera selected	615507			NA	11912194, 10882231	Standard	NM_007184	NM_007184	NA	Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.2203G>A	3.37:g.52521711G>A	ENSP00000418232:p.Gly735Ser	NA	C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	37	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044219	0.36085	0.0	6.98E-4	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000414197	T;T	0.06528	3.29;3.29	5.3	5.3	0.74995	.	0.201961	0.41294	D	0.000916	T	0.02342	0.0072	N	0.08118	0	0.09310	N	1	P	0.40107	0.703	B	0.23716	0.048	T	0.49153	-0.8969	10	0.16420	T	0.52	-33.4656	9.2809	0.37727	0.0755:0.2673:0.6572:0.0	.	735	Q9Y2I1	NISCH_HUMAN	S	735;735;79	ENSP00000418232:G735S;ENSP00000339958:G735S	ENSP00000339958:G735S	G	+	1	0	NISCH	52496751	0.976000	0.34144	0.990000	0.47175	0.906000	0.53458	2.376000	0.44292	2.499000	0.84300	0.555000	0.69702	GGC	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351357.1		+	ENST00000479054.1	Missense_Mutation	SNP	3 : 52521711 - 52521711 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	468	21
HINFP	25988	broad.mit.edu	37	11	119003857	119003857	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119003857G>A	ENST00000527410.1	+	9	1101	c.1067G>A	c.(1066-1068)cGg>cAg	p.R356Q	HINFP_ENST00000350777.2_Missense_Mutation_p.R356Q			Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	356					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	p.R356Q(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGCTTCACACGGGGCAACAAC	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)	large_intestine(1)											160	139	146			NA	NA	11		NA											NA				119003857		2200	4295	6495	SO:0001583	missense			AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273	25988	25988		Zinc fingers, C2H2-type	17850	protein-coding gene	gene with protein product	histone nuclear factor P	607099	MBD2-interacting zinc finger 1, MBD2-interacting zinc finger	MIZF	NA	11553631	Standard	NM_015517	NM_015517	NA	Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000527410.1:c.1067G>A	11.37:g.119003857G>A	ENSP00000436815:p.Arg356Gln	NA	B3KPH6|Q96E65|Q9Y4M7	37	CCDS58188.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966882	0.92855	.	.	ENSG00000172273	ENST00000350777;ENST00000527410	T;T	0.56941	0.43;0.43	5.62	5.62	0.85841	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.59362	0.2188	N	0.20401	0.57	0.43841	D	0.996426	D	0.89917	1.0	D	0.72625	0.978	T	0.55134	-0.8188	10	0.24483	T	0.36	-25.9598	19.6517	0.95819	0.0:0.0:1.0:0.0	.	356	Q9BQA5	HINFP_HUMAN	Q	356	ENSP00000318085:R356Q;ENSP00000436815:R356Q	ENSP00000318085:R356Q	R	+	2	0	HINFP	118509067	1.000000	0.71417	0.906000	0.35671	0.978000	0.69477	9.363000	0.97131	2.662000	0.90505	0.655000	0.94253	CGG	HINFP-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388205.1		+	ENST00000527410.1	Missense_Mutation	SNP	11 : 119003857 - 119003857 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	743	137
ADAM17	6868	broad.mit.edu	37	2	9695662	9695662	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9695662C>T	ENST00000497134.1	-	1	259	c.73G>A	c.(73-75)Ggc>Agc	p.G25S	ADAM17_ENST00000310823.3_Missense_Mutation_p.G25S			P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	25					B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		GGGCCGAAGCCCGGGTCATCC	0.652		NA									OREG0014419	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	27	26			NA	NA	2		NA											NA				9695662		2201	4296	6497	SO:0001583	missense			U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694	6868	6868		ADAM metallopeptidase domain containing, CD molecules	195	protein-coding gene	gene with protein product		603639	tumor necrosis factor, alpha, converting enzyme	TACE	NA	9034190, 9574564	Standard		NM_003183	NA	Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000497134.1:c.73G>A	2.37:g.9695662C>T	ENSP00000418728:p.Gly25Ser	658	O60226	37		.	.	.	.	.	.	.	.	.	.	C	3.655	-0.070722	0.07228	.	.	ENSG00000151694	ENST00000310823;ENST00000497134;ENST00000538558	T;T	0.61859	2.18;0.07	4.36	2.52	0.30459	.	0.486110	0.22687	N	0.056878	T	0.35998	0.0951	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.16166	0.016;0.001;0.016;0.001	B;B;B;B	0.15870	0.007;0.001;0.014;0.001	T	0.17930	-1.0353	10	0.30854	T	0.27	.	8.9281	0.35652	0.0:0.7999:0.0:0.2001	.	25;25;25;25	A8K1B4;B2RNB2;Q6P5T8;P78536	.;.;.;ADA17_HUMAN	S	25	ENSP00000309968:G25S;ENSP00000418728:G25S	ENSP00000309968:G25S	G	-	1	0	ADAM17	9613113	0.005000	0.15991	0.001000	0.08648	0.007000	0.05969	1.044000	0.30329	0.585000	0.29608	-0.797000	0.03246	GGC	ADAM17-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000353336.1		-	ENST00000497134.1	Missense_Mutation	SNP	2 : 9695662 - 9695662 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	83	13
PPFIA1	8500	broad.mit.edu	37	11	70224261	70224261	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70224261G>A	ENST00000253925.7	+	26	3725	c.3510G>A	c.(3508-3510)atG>atA	p.M1170I	PPFIA1_ENST00000530548.1_3'UTR|AP000487.5_ENST00000500185.2_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.M1170I|AP000487.5_ENST00000530690.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	1170					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CTTCTTCTATGTCTTCCCCCT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	129	134			NA	NA	11		NA											NA				70224261		2200	4294	6494	SO:0001583	missense			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626	8500	8500		Sterile alpha motif (SAM) domain containing	9245	protein-coding gene	gene with protein product	Liprin-alpha1	611054			NA	7796809, 9624153	Standard	NM_003626	NM_003626	NA	Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.3510G>A	11.37:g.70224261G>A	ENSP00000253925:p.Met1170Ile	NA	A6NLE3|Q13135|Q14567|Q8N4I2	37	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.399360	0.25291	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950;ENST00000528853	T;T	0.15952	2.39;2.38	4.72	4.72	0.59763	.	0.311546	0.33092	U	0.005294	T	0.14743	0.0356	L	0.27053	0.805	0.41837	D	0.990101	B;B;B	0.14012	0.009;0.0;0.006	B;B;B	0.17098	0.017;0.001;0.005	T	0.05835	-1.0861	10	0.31617	T	0.26	.	17.6892	0.88265	0.0:0.0:1.0:0.0	.	667;1170;1170	F5H1G2;Q13136;Q13136-2	.;LIPA1_HUMAN;.	I	1170;1170;667;26	ENSP00000253925:M1170I;ENSP00000374198:M1170I	ENSP00000253925:M1170I	M	+	3	0	PPFIA1	69901909	1.000000	0.71417	0.663000	0.29738	0.128000	0.20619	5.863000	0.69568	2.180000	0.69256	0.561000	0.74099	ATG	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393905.1		+	ENST00000253925.7	Missense_Mutation	SNP	11 : 70224261 - 70224261 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	589	99
KMT2C	58508	broad.mit.edu	37	7	151932919	151932919	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151932919C>A	ENST00000262189.6	-	16	2970	c.2752G>T	c.(2752-2754)Gct>Tct	p.A918S	KMT2C_ENST00000355193.2_Missense_Mutation_p.A918S	NM_170606.2	NP_733751.2			lysine (K)-specific methyltransferase 2C	NA											NA						AATACAACAGCTCCGATTCCA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	70	72			NA	NA	7		NA											NA				151932919		2202	4284	6486	SO:0001583	missense			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609	58508	58508		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	13726	protein-coding gene	gene with protein product		606833	myeloid/lymphoid or mixed-lineage leukemia 3	MLL3	NA	10819331	Standard		XM_005250026	NA	Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2752G>T	7.37:g.151932919C>A	ENSP00000262189:p.Ala918Ser	NA		37	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.67|10.67	1.415682|1.415682	0.25552|0.25552	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000418673	D;D|.	0.83163|.	-1.69;-1.69|.	5.0|5.0	3.17|3.17	0.36434|0.36434	.|.	0.330195|.	0.21571|.	N|.	0.072402|.	T|T	0.25121|0.25121	0.0610|0.0610	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B|.	0.21071|.	0.051|.	B|.	0.17433|.	0.018|.	T|T	0.04153|0.04153	-1.0973|-1.0973	10|5	0.14252|.	T|.	0.57|.	.|.	4.931|4.931	0.13917|0.13917	0.1555:0.6069:0.0:0.2376|0.1555:0.6069:0.0:0.2376	.|.	918|.	Q8NEZ4|.	MLL3_HUMAN|.	S|I	918|73	ENSP00000262189:A918S;ENSP00000347325:A918S|.	ENSP00000262189:A918S|.	A|S	-|-	1|2	0|0	MLL3|MLL3	151563852|151563852	0.969000|0.969000	0.33509|0.33509	0.999000|0.999000	0.59377|0.59377	0.994000|0.994000	0.84299|0.84299	0.224000|0.224000	0.17738|0.17738	1.241000|1.241000	0.43820|0.43820	0.585000|0.585000	0.79938|0.79938	GCT|AGC	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318887.3		-	ENST00000262189.6	Missense_Mutation	SNP	7 : 151932919 - 151932919 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1063	37
FCRL5	83416	broad.mit.edu	37	1	157497598	157497598	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157497598G>A	ENST00000361835.3	-	9	1926	c.1769C>T	c.(1768-1770)cCg>cTg	p.P590L	FCRL5_ENST00000368191.3_Missense_Mutation_p.P505L|FCRL5_ENST00000356953.4_Missense_Mutation_p.P590L|FCRL5_ENST00000368190.3_Missense_Mutation_p.P590L	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	590	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity	p.P590L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGAGCCTCTCGGGGCCTCACA	0.592		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)											50	54	52			NA	NA	1		NA											NA				157497598		2203	4300	6503	SO:0001583	missense			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297	83416	83416		CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	18508	protein-coding gene	gene with protein product		605877			NA	11027651, 11290337	Standard	NM_031281	NM_031281	NA	Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1769C>T	1.37:g.157497598G>A	ENSP00000354691:p.Pro590Leu	NA	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	37	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	G	0.534	-0.856532	0.02630	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191	T;T;T;T	0.03301	3.98;3.98;3.98;3.98	3.53	-7.06	0.01568	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.291230	0.02368	N	0.077557	T	0.00356	0.0011	N	0.01742	-0.745	0.09310	N	1	B;B;B;B	0.14438	0.001;0.0;0.01;0.01	B;B;B;B	0.12837	0.003;0.002;0.008;0.003	T	0.47302	-0.9128	10	0.20046	T	0.44	.	0.9691	0.01412	0.2751:0.1071:0.3055:0.3123	.	505;590;590;590	F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9	.;.;.;FCRL5_HUMAN	L	590;590;590;505	ENSP00000354691:P590L;ENSP00000349434:P590L;ENSP00000357173:P590L;ENSP00000357174:P505L	ENSP00000349434:P590L	P	-	2	0	FCRL5	155764222	0.000000	0.05858	0.000000	0.03702	0.105000	0.19272	-0.865000	0.04250	-1.601000	0.01601	-1.153000	0.01818	CCG	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046263.1		-	ENST00000361835.3	Missense_Mutation	SNP	1 : 157497598 - 157497598 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	525	99
EVPL	2125	broad.mit.edu	37	17	74005791	74005791	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74005791C>A	ENST00000301607.3	-	22	3748	c.3495G>T	c.(3493-3495)aaG>aaT	p.K1165N	EVPL_ENST00000586740.1_Missense_Mutation_p.K1187N	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1165	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCGTCGCGTTCTTGGTCCTCT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	42	43			NA	NA	17		NA											NA				74005791		2203	4300	6503	SO:0001583	missense			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880	2125	2125			3503	protein-coding gene	gene with protein product		601590			NA	8938451, 10409435	Standard	NM_001988	NM_001988	NA	Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.3495G>T	17.37:g.74005791C>A	ENSP00000301607:p.Lys1165Asn	NA	A0AUV5	37	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	3.416	-0.119149	0.06838	.	.	ENSG00000167880	ENST00000301607	T	0.48836	0.8	5.14	3.11	0.35812	.	0.763817	0.12829	N	0.435764	T	0.37972	0.1023	L	0.43152	1.355	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.12156	0.005;0.007	T	0.31336	-0.9947	10	0.51188	T	0.08	-14.3804	6.5517	0.22438	0.0:0.653:0.131:0.216	.	1187;1165	B7ZLH8;Q92817	.;EVPL_HUMAN	N	1165	ENSP00000301607:K1165N	ENSP00000301607:K1165N	K	-	3	2	EVPL	71517386	0.497000	0.26067	0.002000	0.10522	0.011000	0.07611	0.718000	0.25866	0.559000	0.29153	0.485000	0.47835	AAG	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449483.1		-	ENST00000301607.3	Missense_Mutation	SNP	17 : 74005791 - 74005791 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	322	62
LAMC3	10319	broad.mit.edu	37	9	133928326	133928326	+	Missense_Mutation	SNP	G	G	A	rs148563273	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133928326G>A	ENST00000361069.4	+	11	2046	c.1913G>A	c.(1912-1914)cGc>cAc	p.R638H	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	638	Laminin IV type A.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CTCCGCCTCCGCGTCAGTCCC	0.682		NA									OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								A	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	30	29	29		1913	-9.1	0	9	dbSNP_134	29	1,8595	1.2+/-3.3	0,1,4297	yes	missense	LAMC3	NM_006059.3	29	0,2,6499	AA,AG,GG	NA	0.0116,0.0227,0.0154	benign	638/1576	133928326	2,13000	2203	4298	6501	SO:0001583	missense			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555	10319	10319		Laminins	6494	protein-coding gene	gene with protein product		604349			NA	10225960	Standard	NM_006059	NM_006059	NA	Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1913G>A	9.37:g.133928326G>A	ENSP00000354360:p.Arg638His	1606	B1APX9|B1APY0|Q59H72	37	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	g	17.72	3.458196	0.63401	2.27E-4	1.16E-4	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.50277	0.75	5.65	-9.09	0.00717	Laminin B type IV (2);	0.604497	0.18674	N	0.134377	T	0.52403	0.1732	M	0.79614	2.46	0.09310	N	1	P	0.39809	0.689	P	0.47573	0.55	T	0.60419	-0.7267	10	0.49607	T	0.09	.	17.3735	0.87385	0.6445:0.0:0.3555:0.0	.	638	Q9Y6N6	LAMC3_HUMAN	H	638	ENSP00000354360:R638H	ENSP00000347156:R638H	R	+	2	0	LAMC3	132918147	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.071000	0.03437	-1.933000	0.01052	-2.532000	0.00182	CGC	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054717.3		+	ENST00000361069.4	Missense_Mutation	SNP	9 : 133928326 - 133928326 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	262	56
RANBP6	26953	broad.mit.edu	37	9	6014299	6014299	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6014299C>A	ENST00000259569.5	-	1	1319	c.1309G>T	c.(1309-1311)Gat>Tat	p.D437Y	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	437					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		GGTGCAAAATCTGTAGCCATC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	68	68			NA	NA	9		NA											NA				6014299		2203	4300	6503	SO:0001583	missense			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040	26953	26953			9851	protein-coding gene	gene with protein product					NA		Standard	NM_012416	NM_001243202	NA	Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.1309G>T	9.37:g.6014299C>A	ENSP00000259569:p.Asp437Tyr	NA	Q5T7X4|Q7Z3V2|Q96E78	37	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093604	0.56075	.	.	ENSG00000137040	ENST00000259569	T	0.68025	-0.3	4.21	4.21	0.49690	Armadillo-like helical (1);Armadillo-type fold (1);	0.096988	0.64402	D	0.000002	T	0.81941	0.4929	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.83086	-0.0135	10	0.48119	T	0.1	-12.605	14.8843	0.70555	0.0:1.0:0.0:0.0	.	25;437	B4DTX6;O60518	.;RNBP6_HUMAN	Y	437	ENSP00000259569:D437Y	ENSP00000259569:D437Y	D	-	1	0	RANBP6	6004299	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.578000	0.82498	2.634000	0.89283	0.650000	0.86243	GAT	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051650.1		-	ENST00000259569.5	Missense_Mutation	SNP	9 : 6014299 - 6014299 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	252	12
GTF3C3	9330	broad.mit.edu	37	2	197631301	197631301	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197631301T>C	ENST00000263956.3	-	17	2615	c.2526A>G	c.(2524-2526)ccA>ccG	p.P842P		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	842						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CTACCACAAGTGGAGGGAGCT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	82	83			NA	NA	2		NA											NA				197631301		2203	4300	6503	SO:0001819	synonymous_variant			AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041	9330	9330		General transcription factors, Tetratricopeptide (TTC) repeat domain containing	4666	protein-coding gene	gene with protein product		604888	general transcription factor IIIC, polypeptide 3 (102kD)		NA	10373544	Standard		NM_001206774	NA	Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.2526A>G	2.37:g.197631301T>C		NA	Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	37	CCDS2316.1																																																																																			GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256104.1		-	ENST00000263956.3	Silent	SNP	2 : 197631301 - 197631301 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	400	15
MZF1	7593	broad.mit.edu	37	19	59082669	59082669	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59082669C>T	ENST00000215057.2	-	2	648	c.88G>A	c.(88-90)Gag>Aag	p.E30K	MZF1_ENST00000594108.1_Missense_Mutation_p.E30K|MZF1_ENST00000594234.1_Missense_Mutation_p.E30K|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000599369.1_Missense_Mutation_p.E30K	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	30					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		GCCTCACCCTCCTCCTCAGAG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	34	33			NA	NA	19		NA											NA				59082669		2203	4300	6503	SO:0001583	missense			M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326	7593	7593		-, Zinc fingers, C2H2-type	13108	protein-coding gene	gene with protein product		194550	zinc finger protein 42 (myeloid-specific retinoic acid-responsive)	ZNF42	NA	1860835	Standard	NM_198055	NM_198055	NA	Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.88G>A	19.37:g.59082669C>T	ENSP00000215057:p.Glu30Lys	NA	Q96I71|Q9NRY0|Q9UBW2	37	CCDS12988.1	.	.	.	.	.	.	.	.	.	.	.	7.538	0.660115	0.14645	.	.	ENSG00000099326	ENST00000215057	T	0.07327	3.2	3.67	1.45	0.22620	.	0.426133	0.17364	N	0.176905	T	0.03477	0.0100	N	0.08118	0	0.09310	N	1	B;B	0.17038	0.02;0.001	B;B	0.09377	0.004;0.001	T	0.45585	-0.9251	9	.	.	.	-7.2513	6.1722	0.20424	0.0:0.7625:0.0:0.2375	.	30;30	Q7Z729;P28698	.;MZF1_HUMAN	K	30	ENSP00000215057:E30K	.	E	-	1	0	MZF1	63774481	0.000000	0.05858	0.751000	0.31187	0.103000	0.19146	-0.083000	0.11286	0.514000	0.28300	0.655000	0.94253	GAG	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000467112.1		-	ENST00000215057.2	Missense_Mutation	SNP	19 : 59082669 - 59082669 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	184	35
VCAN	1462	broad.mit.edu	37	5	82786232	82786232	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82786232G>A	ENST00000265077.3	+	3	951	c.386G>A	c.(385-387)cGc>cAc	p.R129H	VCAN_ENST00000513984.1_Missense_Mutation_p.R129H|VCAN_ENST00000512590.2_Missense_Mutation_p.R81H|VCAN_ENST00000502527.2_Missense_Mutation_p.R129H|VCAN_ENST00000343200.5_Missense_Mutation_p.R129H|VCAN_ENST00000342785.4_Missense_Mutation_p.R129H	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	129	Ig-like V-type.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GGTCTTTACCGCTGTGACGTC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	146	140	142		386,386,386,386	5.7	1	5		142	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	VCAN	NM_001126336.2,NM_001164097.1,NM_001164098.1,NM_004385.4	29,29,29,29	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	129/656,129/2410,129/1643,129/3397	82786232	1,13005	2203	4300	6503	SO:0001583	missense			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427	1462	1462		Immunoglobulin superfamily / V-set domain containing, Proteoglycans / Extracellular Matrix : Hyalectans	2464	protein-coding gene	gene with protein product	versican proteoglycan	118661	chondroitin sulfate proteoglycan 2	CSPG2	NA	1478664, 21063030	Standard	NM_004385	NM_004385	NA	Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.386G>A	5.37:g.82786232G>A	ENSP00000265077:p.Arg129His	NA	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462761	0.84425	0.0	1.16E-4	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000513960;ENST00000513984;ENST00000502527	T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.73	5.73	0.89815	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	T	0.80618	0.4657	M	0.76433	2.335	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.924;0.999;1.0;0.986	T	0.81693	-0.0817	10	0.87932	D	0	.	19.9058	0.97007	0.0:0.0:1.0:0.0	.	129;129;129;129;129	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	H	129;129;129;81;129;129;129	ENSP00000265077:R129H;ENSP00000340062:R129H;ENSP00000342768:R129H;ENSP00000425959:R81H;ENSP00000426251:R129H;ENSP00000426715:R129H;ENSP00000421362:R129H	ENSP00000265077:R129H	R	+	2	0	VCAN	82821988	1.000000	0.71417	1.000000	0.80357	0.324000	0.28378	6.161000	0.71868	2.716000	0.92895	0.561000	0.74099	CGC	VCAN-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254092.3		+	ENST00000265077.3	Missense_Mutation	SNP	5 : 82786232 - 82786232 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	551	114
PRSS12	8492	broad.mit.edu	37	4	119203216	119203216	+	Missense_Mutation	SNP	C	C	T	rs139833696		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119203216C>T	ENST00000296498.3	-	13	2785	c.2503G>A	c.(2503-2505)Gga>Aga	p.G835R		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	835	Peptidase S1.					membrane	scavenger receptor activity	p.G835R(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CAGCTCTCTCCGGGCCGTTCA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)						C	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	80	82	81		2503	6.2	0	4	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PRSS12	NM_003619.3	125	0,2,6501	TT,TC,CC	NA	0.0116,0.0227,0.0154	probably-damaging	835/876	119203216	2,13004	2203	4300	6503	SO:0001583	missense			AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099	8492	8492		Serine peptidases / Serine peptidases	9477	protein-coding gene	gene with protein product		606709			NA	9540828, 9245503	Standard		NM_003619	NA	Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.2503G>A	4.37:g.119203216C>T	ENSP00000296498:p.Gly835Arg	NA	Q9UP16	37	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594280	0.66219	2.27E-4	1.16E-4	ENSG00000164099	ENST00000296498	D	0.93366	-3.21	6.17	6.17	0.99709	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.394294	0.30338	N	0.009857	D	0.93943	0.8061	L	0.28556	0.865	0.37830	D	0.92869	D	0.89917	1.0	D	0.71656	0.974	D	0.94576	0.7775	10	0.62326	D	0.03	.	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	835	P56730	NETR_HUMAN	R	835	ENSP00000296498:G835R	ENSP00000296498:G835R	G	-	1	0	PRSS12	119422664	0.997000	0.39634	0.034000	0.17996	0.379000	0.30106	4.465000	0.60141	2.941000	0.99782	0.655000	0.94253	GGA	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256516.2		-	ENST00000296498.3	Missense_Mutation	SNP	4 : 119203216 - 119203216 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	484	85
GPR137	56834	broad.mit.edu	37	11	64056115	64056115	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64056115G>A	ENST00000411458.1	+	8	1155	c.1127G>A	c.(1126-1128)cGg>cAg	p.R376Q	GPR137_ENST00000377702.4_Missense_Mutation_p.R268Q|GPR137_ENST00000438980.2_Missense_Mutation_p.R318Q|GPR137_ENST00000313074.3_Missense_Mutation_p.R318Q|GPR137_ENST00000539851.1_Intron	NM_001170726.1	NP_001164197.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	318						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						TTTGCCTCTCGGTCCTACTTC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	67	73			NA	NA	11		NA											NA				64056115		2198	4297	6495	SO:0001583	missense			AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264	56834	56834		GPCR / Unclassified : 7TM orphan receptors	24300	protein-coding gene	gene with protein product					NA	10873569, 12732197	Standard	NM_020155	NM_001170726	NA	Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000411458.1:c.1127G>A	11.37:g.64056115G>A	ENSP00000411827:p.Arg376Gln	NA	Q4G0Y9|Q8N4K6	37	CCDS53655.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103582	0.56291	.	.	ENSG00000173264	ENST00000411458;ENST00000377702;ENST00000438980;ENST00000313074	T;T;T	0.58652	0.32;0.41;0.36	4.84	2.87	0.33458	.	0.000000	0.85682	D	0.000000	T	0.57607	0.2065	L	0.45352	1.415	0.80722	D	1	P;D;P;D	0.71674	0.938;0.998;0.883;0.978	B;P;B;P	0.56563	0.364;0.801;0.235;0.457	T	0.58272	-0.7665	10	0.66056	D	0.02	-8.6912	6.3244	0.21234	0.0975:0.0:0.7238:0.1787	.	376;318;318;268	B4DTG7;Q96N19-2;Q96N19;Q96N19-3	.;.;G137A_HUMAN;.	Q	376;268;318;318	ENSP00000411827:R376Q;ENSP00000415698:R318Q;ENSP00000321698:R318Q	ENSP00000321698:R318Q	R	+	2	0	GPR137	63812691	0.998000	0.40836	0.993000	0.49108	0.863000	0.49368	6.880000	0.75578	1.029000	0.39812	0.462000	0.41574	CGG	GPR137-006	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396415.1		+	ENST00000411458.1	Missense_Mutation	SNP	11 : 64056115 - 64056115 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	91	15
ZNF470	388566	broad.mit.edu	37	19	57089370	57089370	+	Missense_Mutation	SNP	G	G	A	rs140617949	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57089370G>A	ENST00000330619.8	+	6	2259	c.1573G>A	c.(1573-1575)Gcg>Acg	p.A525T	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.A525T	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TGCACACCTCGCGCAACATCA	0.458		NA											G	2	9e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0026	NA	NA	9e-04	1	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0								G	THR/ALA	2,4404	6.2+/-15.9	0,2,2201	68	67	67		1573	2.1	0.5	19	dbSNP_134	67	10,8590	7.1+/-27.0	0,10,4290	yes	missense	ZNF470	NM_001001668.3	58	0,12,6491	AA,AG,GG	NA	0.1163,0.0454,0.0923	benign	525/718	57089370	12,12994	2203	4300	6503	SO:0001583	missense			AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016	388566	388566		Zinc fingers, C2H2-type, -	22220	protein-coding gene	gene with protein product					NA	15302581	Standard	NM_001001668	NM_001001668	NA	Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1573G>A	19.37:g.57089370G>A	ENSP00000333223:p.Ala525Thr	NA	A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	37	CCDS33122.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	2.273	-0.366479	0.05069	4.54E-4	0.001163	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.08008	3.14;3.14	4.37	2.12	0.27331	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02888	0.0086	N	0.08118	0	0.09310	N	1	B	0.27351	0.176	B	0.15052	0.012	T	0.40961	-0.9535	9	0.02654	T	1	.	5.5542	0.17107	0.2087:0.1704:0.6209:0.0	.	525	Q6ECI4	ZN470_HUMAN	T	525	ENSP00000375590:A525T;ENSP00000333223:A525T	ENSP00000333223:A525T	A	+	1	0	ZNF470	61781182	0.000000	0.05858	0.481000	0.27354	0.812000	0.45895	0.041000	0.13927	1.066000	0.40716	-0.145000	0.13849	GCG	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459707.2		+	ENST00000330619.8	Missense_Mutation	SNP	19 : 57089370 - 57089370 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	63
ZNF112	7771	broad.mit.edu	37	19	44833535	44833535	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44833535T>G	ENST00000354340.4	-	4	826	c.775A>C	c.(775-777)Aaa>Caa	p.K259Q	ZNF112_ENST00000536500.1_Missense_Mutation_p.K282Q|ZNF112_ENST00000337401.4_Missense_Mutation_p.K265Q	NM_013380.3	NP_037512.3			zinc finger protein 112	NA											NA						CTGAAGGCTTTTCTATACCCA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	100	100			NA	NA	19		NA											NA				44833535		2203	4300	6503	SO:0001583	missense			AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370	7771	7771		Zinc fingers, C2H2-type	12892	protein-coding gene	gene with protein product		603994	zinc finger protein 112 homolog (mouse), zinc finger protein 228	ZFP112, ZNF228	NA		Standard	NM_013380	NM_013380	NA	Approved			Q9UJU3	OTTHUMG00000182357	ENST00000354340.4:c.775A>C	19.37:g.44833535T>G	ENSP00000346305:p.Lys259Gln	NA		37	CCDS12637.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.213710	0.58452	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.21932	1.98;1.98;1.98	5.38	-0.593	0.11667	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.443179	0.16708	N	0.202804	T	0.27559	0.0677	M	0.88842	2.985	0.09310	N	1	B;P;B	0.36990	0.441;0.577;0.441	B;B;B	0.38264	0.138;0.269;0.138	T	0.16276	-1.0408	10	0.56958	D	0.05	-1.8997	6.1902	0.20520	0.0:0.2904:0.136:0.5736	.	264;282;265	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	Q	265;265;259;282;264	ENSP00000337081:K265Q;ENSP00000346305:K259Q;ENSP00000441990:K282Q	ENSP00000253426:K264Q	K	-	1	0	ZNF285	49525375	.	.	0.001000	0.08648	0.623000	0.37688	.	.	-0.136000	0.11475	0.459000	0.35465	AAA	ZNF112-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460743.1		-	ENST00000354340.4	Missense_Mutation	SNP	19 : 44833535 - 44833535 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	421	93
CDH17	1015	broad.mit.edu	37	8	95189834	95189834	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95189834C>A	ENST00000027335.3	-	4	390	c.266G>T	c.(265-267)aGa>aTa	p.R89I	CDH17_ENST00000441892.2_Missense_Mutation_p.R89I|CDH17_ENST00000450165.2_Missense_Mutation_p.R89I	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	89	Cadherin 1.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GTGAGTAGATCTTGTTTCCCT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													227	216	220			NA	NA	8		NA											NA				95189834		2203	4300	6503	SO:0001583	missense			X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112	1015	1015		Cadherins / Major cadherins	1756	protein-coding gene	gene with protein product		603017			NA	9615235, 10191097	Standard	NM_004063	NM_004063	NA	Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.266G>T	8.37:g.95189834C>A	ENSP00000027335:p.Arg89Ile	NA	Q15336|Q2M2E0	37	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	C	9.500	1.102864	0.20632	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165;ENST00000521491	T;T;T;T	0.60299	0.2;4.58;0.2;0.69	6.04	2.23	0.28157	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000011	T	0.52338	0.1728	L	0.39326	1.205	0.27924	N	0.93813	P;D	0.57257	0.836;0.979	B;P	0.51806	0.308;0.68	T	0.48364	-0.9042	10	0.66056	D	0.02	-11.6902	5.5827	0.17258	0.0:0.5728:0.1352:0.292	.	89;89	E7EN24;Q12864	.;CAD17_HUMAN	I	89	ENSP00000027335:R89I;ENSP00000392811:R89I;ENSP00000401468:R89I;ENSP00000428189:R89I	ENSP00000027335:R89I	R	-	2	0	CDH17	95259010	0.969000	0.33509	0.531000	0.27976	0.134000	0.20937	0.796000	0.26986	0.444000	0.26612	-0.251000	0.11542	AGA	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378560.1		-	ENST00000027335.3	Missense_Mutation	SNP	8 : 95189834 - 95189834 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	666	104
PKDREJ	10343	broad.mit.edu	37	22	46655931	46655931	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46655931T>C	ENST00000253255.5	-	1	3288	c.3289A>G	c.(3289-3291)Att>Gtt	p.I1097V		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1097					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AAAATAGAAATTCTCACTAGC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	82	84			NA	NA	22		NA											NA				46655931		2203	4300	6503	SO:0001583	missense			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943	10343	10343			9015	protein-coding gene	gene with protein product		604670	polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like, polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like, polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)		NA	9949214, 10591208	Standard	NM_006071	NM_006071	NA	Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.3289A>G	22.37:g.46655931T>C	ENSP00000253255:p.Ile1097Val	NA	B1AJY3|O95850	37	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	T	11.01	1.511945	0.27036	.	.	ENSG00000130943	ENST00000253255	T	0.48522	0.81	5.2	4.16	0.48862	.	0.089619	0.47455	N	0.000232	T	0.37812	0.1017	M	0.65498	2.005	0.09310	N	1	P	0.39181	0.663	B	0.33042	0.157	T	0.28332	-1.0047	10	0.26408	T	0.33	-28.9567	5.6471	0.17596	0.1503:0.0805:0.0:0.7692	.	1097	Q9NTG1	PKDRE_HUMAN	V	1097	ENSP00000253255:I1097V	ENSP00000253255:I1097V	I	-	1	0	PKDREJ	45034595	0.816000	0.29132	0.012000	0.15200	0.102000	0.19082	2.169000	0.42434	0.942000	0.37525	0.374000	0.22700	ATT	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318466.1		-	ENST00000253255.5	Missense_Mutation	SNP	22 : 46655931 - 46655931 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	29
DCLK1	9201	broad.mit.edu	37	13	36686021	36686021	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36686021C>T	ENST00000255448.4	-	3	919	c.708G>A	c.(706-708)acG>acA	p.T236T	DCLK1_ENST00000379892.4_Silent_p.T236T|DCLK1_ENST00000360631.3_Silent_p.T236T	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	236	Doublecortin 2.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TCCCATCCAACGTGTACAGGC	0.483		NA											C	1	5e-04	0.002	NA	2184	NA	0.9999	,	,	NA	2e-04	NA	NA	NA	5e-04	0.9135	EXOME	NA	NA	5e-04	SNP								NA				0								C		2,4404	4.2+/-10.8	0,2,2201	102	89	93		708	-9.3	0	13		93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DCLK1	NM_004734.4		0,3,6500	TT,TC,CC	NA	0.0116,0.0454,0.0231		236/730	36686021	3,13003	2203	4300	6503	SO:0001819	synonymous_variant			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083	9201	9201			2700	protein-coding gene	gene with protein product		604742	doublecortin and CaM kinase-like 1	DCAMKL1	NA	9747029, 10036192	Standard	NM_004734	NM_004734	NA	Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000255448.4:c.708G>A	13.37:g.36686021C>T		NA	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	37	CCDS9354.1																																																																																			DCLK1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044483.1		-	ENST00000255448.4	Silent	SNP	13 : 36686021 - 36686021 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	457	41
IDO1	3620	broad.mit.edu	37	8	39780089	39780089	+	Silent	SNP	C	C	T	rs115833371	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39780089C>T	ENST00000518237.1	+	6	1095	c.456C>T	c.(454-456)ttC>ttT	p.F152F	IDO1_ENST00000522495.1_Silent_p.F152F|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	152					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	ACGTTTTGTTCTCATTTCGTG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	125	128			NA	NA	8		NA											NA				39780089		1857	4109	5966	SO:0001819	synonymous_variant			M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	3620	3620	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	indoleamine-pyrrole 2,3 dioxygenase	IDO, INDO	NA	2109605, 8404046	Standard	NM_002164	NM_002164	NA	Approved		uc003xnm.3	P14902		ENST00000518237.1:c.456C>T	8.37:g.39780089C>T		NA	Q540B4	37	CCDS47847.1																																																																																			IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376987.1		+	ENST00000518237.1	Silent	SNP	8 : 39780089 - 39780089 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	284	55
ARHGEF10L	55160	broad.mit.edu	37	1	17945899	17945899	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17945899C>A	ENST00000361221.3	+	10	1060	c.901C>A	c.(901-903)Cca>Aca	p.P301T	ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.P301T|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.P79T|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.P59T|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.P79T|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.P262T|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.P262T	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	301					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GCCCCCAGCCCCAGAGCTGGG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	27	27			NA	NA	1		NA											NA				17945899		2201	4300	6501	SO:0001583	missense			AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964	55160	55160		Rho guanine nucleotide exchange factors	25540	protein-coding gene	gene with protein product	GrinchGEF	612494			NA	10997877, 16112081	Standard	NM_018125	XM_005245923	NA	Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.901C>A	1.37:g.17945899C>A	ENSP00000355060:p.Pro301Thr	NA	B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	37	CCDS182.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750029	0.69533	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375420;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T;T;T	0.64803	0.23;0.33;0.07;0.33;-0.12;-0.05;2.14	4.75	4.75	0.60458	Dbl homology (DH) domain (1);	0.067931	0.64402	D	0.000013	T	0.68128	0.2967	L	0.39898	1.24	0.40256	D	0.978126	D;P;D;P;P;D;D;D	0.65815	0.983;0.952;0.995;0.939;0.918;0.982;0.99;0.982	P;P;D;P;P;P;P;P	0.66847	0.806;0.703;0.947;0.494;0.558;0.864;0.878;0.758	T	0.71119	-0.4685	10	0.66056	D	0.02	-23.3795	10.0588	0.42261	0.0:0.9064:0.0:0.0936	.	79;59;301;79;67;262;262;301	Q5VXI4;B4DTE2;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;.;ARGAL_HUMAN	T	301;262;301;262;59;79;79;79	ENSP00000355060:P301T;ENSP00000399401:P262T;ENSP00000394621:P301T;ENSP00000364564:P262T;ENSP00000364569:P59T;ENSP00000364557:P79T;ENSP00000167825:P79T	ENSP00000167825:P79T	P	+	1	0	ARHGEF10L	17818486	0.993000	0.37304	0.998000	0.56505	0.985000	0.73830	3.486000	0.53215	2.203000	0.70933	0.561000	0.74099	CCA	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007147.1		+	ENST00000361221.3	Missense_Mutation	SNP	1 : 17945899 - 17945899 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	135	12
DSE	29940	broad.mit.edu	37	6	116757772	116757772	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116757772C>A	ENST00000331677.3	+	7	2585	c.2141C>A	c.(2140-2142)gCt>gAt	p.A714D	DSE_ENST00000537543.1_Missense_Mutation_p.A733D|DSE_ENST00000452085.3_Missense_Mutation_p.A714D|DSE_ENST00000359564.2_Missense_Mutation_p.A714D			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	714					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CAGGTCATTGCTGATCGTCAC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	95	97			NA	NA	6		NA											NA				116757772		2203	4300	6503	SO:0001583	missense			AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	29940	29940	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	squamous cell carcinoma antigen recognized by T cells 2	SART2	NA	11920522, 16505484	Standard	NM_013352	NM_001080976	NA	Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.2141C>A	6.37:g.116757772C>A	ENSP00000332151:p.Ala714Asp	NA	Q5R3K6	37	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807703	0.50421	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	6.06	6.06	0.98353	.	0.164825	0.56097	D	0.000029	T	0.67896	0.2942	L	0.51422	1.61	0.49389	D	0.999787	D;D	0.60160	0.987;0.987	P;P	0.60682	0.878;0.731	T	0.60969	-0.7157	10	0.33940	T	0.23	-13.3396	20.6397	0.99537	0.0:1.0:0.0:0.0	.	733;714	B7Z765;Q9UL01	.;DSE_HUMAN	D	714;733;714;714	ENSP00000404049:A714D;ENSP00000441152:A733D;ENSP00000332151:A714D;ENSP00000352567:A714D	ENSP00000332151:A714D	A	+	2	0	DSE	116864465	1.000000	0.71417	0.996000	0.52242	0.592000	0.36648	4.336000	0.59304	2.880000	0.98712	0.650000	0.86243	GCT	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041940.2		+	ENST00000331677.3	Missense_Mutation	SNP	6 : 116757772 - 116757772 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	576	83
ZFHX3	463	broad.mit.edu	37	16	72831208	72831208	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72831208C>A	ENST00000268489.5	-	9	6045	c.5373G>T	c.(5371-5373)caG>caT	p.Q1791H	ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q877H	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1791	Poly-Gln.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTGCTGCTGCTGTAGTTGCA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	102	101			NA	NA	16		NA											NA				72831208		2198	4300	6498	SO:0001583	missense			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836	463	463		Zinc fingers, C2H2-type, Homeoboxes / ZF class	777	protein-coding gene	gene with protein product		104155	AT-binding transcription factor 1	ATBF1	NA	1719379, 7592926	Standard	NM_006885	NM_006885	NA	Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.5373G>T	16.37:g.72831208C>A	ENSP00000268489:p.Gln1791His	NA	D3DWS8|O15101|Q13719	37	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.492633	0.26774	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	D;D	0.86164	-2.08;-1.95	6.17	3.21	0.36854	.	0.000000	0.47455	D	0.000230	D	0.89760	0.6808	L	0.49126	1.545	0.54753	D	0.999988	D	0.71674	0.998	D	0.79784	0.993	D	0.88453	0.3050	10	0.52906	T	0.07	.	9.4691	0.38831	0.0:0.6739:0.0:0.3261	.	1791	Q15911	ZFHX3_HUMAN	H	1791;877	ENSP00000268489:Q1791H;ENSP00000438926:Q877H	ENSP00000268489:Q1791H	Q	-	3	2	ZFHX3	71388709	0.938000	0.31826	1.000000	0.80357	0.985000	0.73830	0.133000	0.15912	0.949000	0.37715	-0.150000	0.13652	CAG	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269008.1		-	ENST00000268489.5	Missense_Mutation	SNP	16 : 72831208 - 72831208 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	559	78
C10orf68	0	broad.mit.edu	37	10	32978017	32978017	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32978017G>T	ENST00000375030.2	+	8	833	c.215G>T	c.(214-216)aGg>aTg	p.R72M	C10orf68_ENST00000375025.4_Missense_Mutation_p.R64M|C10orf68_ENST00000375028.3_Missense_Mutation_p.R78M			Q9H943	CJ068_HUMAN		64										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						CTTATACTTAGGCATCAAGAC	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	61	60			NA	NA	10		NA											NA				32978017		2203	4296	6499	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000375030.2:c.215G>T	10.37:g.32978017G>T	ENSP00000364170:p.Arg72Met	NA	B0QZ71|Q08AN7|Q8N7T7	37		.	.	.	.	.	.	.	.	.	.	.	10.87	1.471352	0.26423	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T;T	0.33865	1.43;1.39;1.7;1.41	3.42	-0.376	0.12505	.	.	.	.	.	T	0.21881	0.0527	L	0.29908	0.895	0.09310	N	1	B;B;P	0.35411	0.282;0.282;0.5	B;B;B	0.34931	0.126;0.126;0.192	T	0.17410	-1.0370	9	0.54805	T	0.06	.	3.1615	0.06522	0.5187:0.2197:0.2616:0.0	.	64;78;72	Q9H943;A2A3B4;A2A3D6	CJ068_HUMAN;.;.	M	64;72;78;64;50	ENSP00000303710:R64M;ENSP00000364170:R72M;ENSP00000364168:R78M;ENSP00000364165:R64M	ENSP00000303710:R64M	R	+	2	0	C10orf68	33018023	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.508000	0.06344	-0.078000	0.12730	-0.350000	0.07774	AGG	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000313999.2		+	ENST00000375030.2	Missense_Mutation	SNP	10 : 32978017 - 32978017 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	211	38
SRRM4	84530	broad.mit.edu	37	12	119568492	119568492	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119568492C>T	ENST00000267260.4	+	8	1012	c.624C>T	c.(622-624)ggC>ggT	p.G208G	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	208	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GGCACCGCGGCCGGTCCCCTG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	20	18			NA	NA	12		NA											NA				119568492		1888	4099	5987	SO:0001819	synonymous_variant			AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767	84530	84530			29389	protein-coding gene	gene with protein product	neural-specific SR-related protein of 100 kDa	613103	KIAA1853	KIAA1853	NA	19737518	Standard	NM_194286	NM_194286	NA	Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.624C>T	12.37:g.119568492C>T		NA	A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	37	CCDS44994.1																																																																																			SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401640.2		+	ENST00000267260.4	Silent	SNP	12 : 119568492 - 119568492 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	138	29
CAPRIN2	65981	broad.mit.edu	37	12	30878969	30878969	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:30878969A>G	ENST00000395805.2	-	9	2383	c.1836T>C	c.(1834-1836)gaT>gaC	p.D612D	CAPRIN2_ENST00000251071.5_Silent_p.D612D|CAPRIN2_ENST00000308433.5_Silent_p.D279D|CAPRIN2_ENST00000417045.1_Silent_p.D612D|CAPRIN2_ENST00000298892.5_Silent_p.D612D	NM_001206856.1	NP_001193785.1	Q6IMN6	CAPR2_HUMAN	caprin family member 2	612					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCAATACTGGATCCTTCGGAA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	91	93			NA	NA	12		NA											NA				30878969		2203	4300	6503	SO:0001819	synonymous_variant			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888	65981	65981			21259	protein-coding gene	gene with protein product		610375	C1q domain containing 1	C1QDC1	NA	11347906, 14764709	Standard	NM_023925	NM_001002259	NA	Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.1836T>C	12.37:g.30878969A>G		NA	Q149P7|Q6IMN5|Q7Z371|Q8TE70|Q8TE71|Q96RN6|Q9H667|Q9HAL4	37	CCDS55816.1																																																																																			CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403322.2		-	ENST00000395805.2	Silent	SNP	12 : 30878969 - 30878969 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	279	60
HDAC9	9734	broad.mit.edu	37	7	18801889	18801889	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18801889G>T	ENST00000406451.4	+	15	2294	c.2144G>T	c.(2143-2145)aGg>aTg	p.R715M	HDAC9_ENST00000432645.2_Missense_Mutation_p.R715M|HDAC9_ENST00000401921.1_Missense_Mutation_p.R674M|HDAC9_ENST00000441542.2_Missense_Mutation_p.R718M	NM_178423.1	NP_848510.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	NA	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CTGGACCCCAGGATACTCCTA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	54	53			NA	NA	7		NA											NA				18801889		1956	4143	6099	SO:0001583	missense			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052	9734	9734			14065	protein-coding gene	gene with protein product		606543			NA	10523670, 10487760	Standard		NM_178425	NA	Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000406451.4:c.2144G>T	7.37:g.18801889G>T	ENSP00000384657:p.Arg715Met	NA	A7E2F3|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	37	CCDS47554.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796699	0.70567	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	5.56	5.56	0.83823	Histone deacetylase domain (2);	0.076195	0.56097	D	0.000031	T	0.72326	0.3446	L	0.53729	1.69	0.80722	D	1	P;P;P;P;P;P	0.47191	0.63;0.891;0.891;0.801;0.891;0.801	B;P;P;P;P;P	0.53988	0.205;0.621;0.621;0.739;0.621;0.628	T	0.72357	-0.4318	10	0.51188	T	0.08	-18.5514	13.1596	0.59537	0.0732:0.0:0.9268:0.0	.	715;674;718;715;715;693	Q9UKV0-4;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5;Q8N879	.;.;.;HDAC9_HUMAN;.;.	M	715;674;715;718;627	ENSP00000384657:R715M;ENSP00000383912:R674M;ENSP00000410337:R715M;ENSP00000408617:R718M	ENSP00000339165:R627M	R	+	2	0	HDAC9	18768414	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.175000	0.58263	2.776000	0.95493	0.655000	0.94253	AGG	HDAC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326405.2		+	ENST00000406451.4	Missense_Mutation	SNP	7 : 18801889 - 18801889 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	153	28
DUSP7	1849	broad.mit.edu	37	3	52088391	52088391	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52088391C>A	ENST00000495880.1	-	2	701		c.e2-1		DUSP7_ENST00000296483.6_Splice_Site			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	NA					inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|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	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TTGAAACCACCTGTGTCCAGG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	34	32			NA	NA	3		NA											NA				52088391		2203	4300	6503	SO:0001630	splice_region_variant			X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086	1849	1849		Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases	3073	protein-coding gene	gene with protein product		602749			NA	8626780, 9205128	Standard	NM_001947	NM_001947	NA	Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.518-1G>T	3.37:g.52088391C>A		NA	Q2M3J7|Q8NFJ0	37	CCDS33766.2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197309	0.79015	.	.	ENSG00000164086	ENST00000495880;ENST00000296483;ENST00000469623	.	.	.	5.42	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7692	0.63015	0.0:0.9251:0.0:0.0749	.	.	.	.	.	-1	.	.	.	-	.	.	DUSP7	52063431	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.749000	0.85096	1.282000	0.44496	0.549000	0.68633	.	DUSP7-001	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349697.1	Intron	-	ENST00000495880.1	Splice_Site	SNP	3 : 52088391 - 52088391 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	218	37
ASTN1	460	broad.mit.edu	37	1	176857313	176857313	+	Missense_Mutation	SNP	G	G	T	rs141185084		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176857313G>T	ENST00000367657.3	-	18	3158	c.2968C>A	c.(2968-2970)Ctc>Atc	p.L990I	ASTN1_ENST00000361833.2_Missense_Mutation_p.L990I|ASTN1_ENST00000367654.3_Missense_Mutation_p.L998I|ASTN1_ENST00000424564.2_Missense_Mutation_p.L990I			O14525	ASTN1_HUMAN	astrotactin 1	998					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAGCACCAGAGAGAGCTCATG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	87	92			NA	NA	1		NA											NA				176857313		2203	4300	6503	SO:0001583	missense			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092	460	460			773	protein-coding gene	gene with protein product		600904	astrotactin	ASTN	NA	9070947	Standard	NM_004319	NM_001286164	NA	Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367657.3:c.2968C>A	1.37:g.176857313G>T	ENSP00000356629:p.Leu990Ile	NA	O60799|Q5W0V7|Q5W0V8	37		.	.	.	.	.	.	.	.	.	.	G	15.82	2.947532	0.53186	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	5.82	5.82	0.92795	.	0.063133	0.64402	D	0.000005	T	0.25717	0.0626	N	0.17082	0.46	0.54753	D	0.999981	B;B	0.13594	0.008;0.008	B;B	0.14578	0.011;0.011	T	0.03374	-1.1043	10	0.45353	T	0.12	-25.1042	14.515	0.67814	0.0:0.0:0.8532:0.1468	.	990;990	O14525-2;B1AJS1	.;.	I	990;990;998;990;990	ENSP00000356629:L990I;ENSP00000354536:L990I;ENSP00000356626:L998I;ENSP00000395041:L990I	ENSP00000354536:L990I	L	-	1	0	ASTN1	175123936	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	4.348000	0.59379	2.744000	0.94065	0.585000	0.79938	CTC	ASTN1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000084823.1		-	ENST00000367657.3	Missense_Mutation	SNP	1 : 176857313 - 176857313 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	52
BTBD11	121551	broad.mit.edu	37	12	108013842	108013842	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108013842C>A	ENST00000280758.5	+	11	3060	c.2532C>A	c.(2530-2532)tgC>tgA	p.C844*	BTBD11_ENST00000490090.2_Nonsense_Mutation_p.C844*|BTBD11_ENST00000420571.2_Nonsense_Mutation_p.C725*|BTBD11_ENST00000357167.4_Nonsense_Mutation_p.C381*	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	844						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCATCCAGTGCTTGTTAAAGG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	68	69			NA	NA	12		NA											NA				108013842		2203	4300	6503	SO:0001587	stop_gained			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136	121551	121551		BTB/POZ domain containing, Ankyrin repeat domain containing	23844	protein-coding gene	gene with protein product					NA		Standard	NM_152322	XM_005268645	NA	Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2532C>A	12.37:g.108013842C>A	ENSP00000280758:p.Cys844*	NA	A4FU41|C9J019|C9JK80|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	37	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	C	39	7.460790	0.98299	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000357167	.	.	.	5.04	2.8	0.32819	.	0.135156	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	9.4877	0.38940	0.0:0.7361:0.0:0.2639	.	.	.	.	X	844;725;844;381	.	ENSP00000280758:C844X	C	+	3	2	BTBD11	106537972	0.777000	0.28628	0.997000	0.53966	0.983000	0.72400	0.234000	0.17930	1.079000	0.41038	0.650000	0.86243	TGC	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318003.1		+	ENST00000280758.5	Nonsense_Mutation	SNP	12 : 108013842 - 108013842 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	307	85
HAUS2	55142	broad.mit.edu	37	15	42853482	42853482	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42853482A>G	ENST00000260372.3	+	4	334	c.271A>G	c.(271-273)Act>Gct	p.T91A	HAUS2_ENST00000568876.1_Missense_Mutation_p.T60A|HAUS2_ENST00000568846.2_Missense_Mutation_p.I89M	NM_018097.2	NP_060567.1	Q9NVX0	HAUS2_HUMAN	HAUS augmin-like complex, subunit 2	91					cell division|centrosome organization|G2/M transition of mitotic cell cycle|mitosis|spindle assembly	centrosome|cytosol|HAUS complex|microtubule|spindle				endometrium(1)|large_intestine(1)|lung(1)	3						GAAGTGTCATACTCTGCAAAG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	92	93			NA	NA	15		NA											NA				42853482		2203	4299	6502	SO:0001583	missense			AK001322	CCDS10090.1, CCDS45247.1	15q15.1	2014-02-20	2009-04-20	2009-04-20	ENSG00000137814	ENSG00000137814	55142	55142		HAUS augmin-like complex subunits	25530	protein-coding gene	gene with protein product		613429	chromosome 15 open reading frame 25, centrosomal protein 27kDa	C15orf25, CEP27	NA	14702039, 14654843, 19427217	Standard	NM_018097	NM_018097	NA	Approved	FLJ10460, HsT17025	uc001zqe.3	Q9NVX0	OTTHUMG00000130678	ENST00000260372.3:c.271A>G	15.37:g.42853482A>G	ENSP00000260372:p.Thr91Ala	NA	C9JH36|Q9H9B3	37	CCDS10090.1	.	.	.	.	.	.	.	.	.	.	A	12.66	2.004160	0.35320	.	.	ENSG00000137814	ENST00000260372;ENST00000391623	T	0.46451	0.87	5.8	-2.36	0.06663	.	1.191630	0.05775	N	0.607497	T	0.19725	0.0474	N	0.11427	0.14	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.002;0.003	T	0.25363	-1.0134	10	0.07030	T	0.85	-15.2457	8.1408	0.31082	0.3617:0.0:0.5174:0.1208	.	60;91	Q9NVX0-3;Q9NVX0	.;HAUS2_HUMAN	A	91;60	ENSP00000260372:T91A	ENSP00000260372:T91A	T	+	1	0	HAUS2	40640774	0.000000	0.05858	0.019000	0.16419	0.996000	0.88848	-0.165000	0.09968	-0.184000	0.10567	0.533000	0.62120	ACT	HAUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253173.1		+	ENST00000260372.3	Missense_Mutation	SNP	15 : 42853482 - 42853482 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	56
SEZ6L2	26470	broad.mit.edu	37	16	29891239	29891239	+	Missense_Mutation	SNP	C	C	T	rs139011711		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29891239C>T	ENST00000308713.5	-	9	2046	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K	SEZ6L2_ENST00000350527.3_Missense_Mutation_p.E437K|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.E393K|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.E463K	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	507	Sushi 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCACACATTCGATGGCATTG	0.622		NA											C	1	5e-04	NA	0.0028	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	4e-04	0.8551	EXOME	NA	NA	0.0047	SNP								NA				0								C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	1,4393	2.1+/-5.4	0,1,2196	147	144	145		1309,1177,1309,1519	5.3	1	16	dbSNP_134	145	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	SEZ6L2	NM_001114099.2,NM_001114100.2,NM_012410.3,NM_201575.3	56,56,56,56	0,2,6495	TT,TC,CC	NA	0.0116,0.0228,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	437/841,393/810,437/854,507/911	29891239	2,12992	2197	4300	6497	SO:0001583	missense			AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938	26470	26470			30844	protein-coding gene	gene with protein product	type I transmembrane receptor (seizure related protein)				NA	12975309	Standard	NM_012410	NM_012410	NA	Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.1519G>A	16.37:g.29891239C>T	ENSP00000312550:p.Glu507Lys	NA	Q9UJ45|Q9UJ46|Q9UJ47	37	CCDS10659.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	29.8	5.039132	0.93630	2.28E-4	1.16E-4	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.26	5.26	0.73747	Complement control module (2);Sushi/SCR/CCP (3);	0.105878	0.41823	D	0.000808	T	0.74642	0.3743	M	0.62723	1.935	0.80722	D	1	D;D;P;P;D;P	0.63880	0.993;0.96;0.824;0.951;0.96;0.951	P;B;B;B;B;B	0.61201	0.885;0.348;0.278;0.236;0.348;0.236	T	0.72865	-0.4163	10	0.39692	T	0.17	.	17.8014	0.88589	0.0:1.0:0.0:0.0	.	463;507;393;437;507;437	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	K	437;507;393;463	ENSP00000310206:E437K;ENSP00000312550:E507K;ENSP00000319215:E393K;ENSP00000439412:E463K	ENSP00000312550:E507K	E	-	1	0	SEZ6L2	29798740	1.000000	0.71417	0.990000	0.47175	0.987000	0.75469	4.505000	0.60421	2.735000	0.93741	0.655000	0.94253	GAA	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255154.2		-	ENST00000308713.5	Missense_Mutation	SNP	16 : 29891239 - 29891239 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1332	255
PAFAH1B1	5048	broad.mit.edu	37	17	2576029	2576029	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2576029A>C	ENST00000397195.5	+	7	1100	c.649A>C	c.(649-651)Aaa>Caa	p.K217Q	PAFAH1B1_ENST00000451360.2_Missense_Mutation_p.K46Q|PAFAH1B1_ENST00000572915.2_3'UTR	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	217	Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TAAAACTATAAAAATGTGGGA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	89	92			NA	NA	17		NA											NA				2576029		2203	4300	6503	SO:0001583	missense			L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168	5048	5048		WD repeat domain containing	8574	protein-coding gene	gene with protein product	lissencephaly-1	601545	platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD), Miller-Dieker syndrome chromosome region, platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa, platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)	MDCR, MDS	NA	8355785, 9063735	Standard	NM_000430	NM_000430	NA	Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.649A>C	17.37:g.2576029A>C	ENSP00000380378:p.Lys217Gln	NA	B2R7Q7|Q8WZ88|Q8WZ89	37	CCDS32528.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.567297	0.86439	.	.	ENSG00000007168	ENST00000397195;ENST00000397193;ENST00000451360	T;T	0.66995	-0.24;-0.24	4.92	4.92	0.64577	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80869	0.4706	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	D	0.83554	0.0103	10	0.87932	D	0	.	14.0218	0.64560	1.0:0.0:0.0:0.0	.	46;217	B4DF38;P43034	.;LIS1_HUMAN	Q	217;46;46	ENSP00000380378:K217Q;ENSP00000395628:K46Q	ENSP00000380377:K46Q	K	+	1	0	PAFAH1B1	2522779	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.135000	0.94478	1.953000	0.56701	0.460000	0.39030	AAA	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437797.2		+	ENST00000397195.5	Missense_Mutation	SNP	17 : 2576029 - 2576029 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	273	54
SCN1A	6323	broad.mit.edu	37	2	166908316	166908316	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166908316C>A	ENST00000409050.1	-	6	876	c.877G>T	c.(877-879)Gaa>Taa	p.E293*	SCN1A_ENST00000423058.2_Nonsense_Mutation_p.E293*|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000303395.4_Nonsense_Mutation_p.E293*|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.E293*|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	293						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ATATTCTTTTCTATACTATGT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	72	71			NA	NA	2		NA											NA				166908316		2203	4298	6501	SO:0001587	stop_gained			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285	6323	6323		Sodium channels, Voltage-gated ion channels / Sodium channels	10585	protein-coding gene	gene with protein product		182389	febrile convulsions 3	SCN1, FEB3	NA	8062593, 16382098, 11823106	Standard	NM_006920	NM_006920	NA	Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000409050.1:c.877G>T	2.37:g.166908316C>A	ENSP00000386312:p.Glu293*	NA	Q16172|Q585T7|Q96LA3|Q9C008	37	CCDS54414.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557946	0.65538	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	.	.	.	5.41	5.41	0.78517	.	0.454372	0.20978	N	0.082277	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	15.7602	0.78073	0.0:0.7294:0.2706:0.0	.	.	.	.	X	293	.	ENSP00000303540:E293X	E	-	1	0	SCN1A	166616562	1.000000	0.71417	1.000000	0.80357	0.195000	0.23768	1.026000	0.30103	2.688000	0.91661	0.655000	0.94253	GAA	SCN1A-003	NOVEL	non_canonical_U12|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333750.1		-	ENST00000409050.1	Nonsense_Mutation	SNP	2 : 166908316 - 166908316 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	246	36
STAG1	10274	broad.mit.edu	37	3	136068110	136068110	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136068110G>A	ENST00000236698.5	-	29	3427	c.3161C>T	c.(3160-3162)aCt>aTt	p.T1054I	STAG1_ENST00000383202.2_Missense_Mutation_p.T1054I|STAG1_ENST00000434713.2_Missense_Mutation_p.T794I|STAG1_ENST00000536929.1_Missense_Mutation_p.T638I			Q8WVM7	STAG1_HUMAN	stromal antigen 1	1054					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TTCACCCCCAGTGACTAATGA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	118	122			NA	NA	3		NA											NA				136068110		2203	4300	6503	SO:0001583	missense			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007	10274	10274			11354	protein-coding gene	gene with protein product		604358			NA	9305759	Standard	NM_005862	XM_006713471	NA	Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000236698.5:c.3161C>T	3.37:g.136068110G>A	ENSP00000236698:p.Thr1054Ile	NA	O00539	37		.	.	.	.	.	.	.	.	.	.	G	20.9	4.073453	0.76415	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	T;T;T;T	0.31510	1.9;1.9;1.9;1.49	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.30792	0.0776	L	0.40543	1.245	0.80722	D	1	B;B	0.26708	0.007;0.157	B;B	0.22601	0.009;0.04	T	0.02064	-1.1220	10	0.38643	T	0.18	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1054;1054	Q6P275;Q8WVM7	.;STAG1_HUMAN	I	1054;1054;794;638	ENSP00000372689:T1054I;ENSP00000236698:T1054I;ENSP00000404396:T794I;ENSP00000445787:T638I	ENSP00000236698:T1054I	T	-	2	0	STAG1	137550800	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	ACT	STAG1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000357403.1		-	ENST00000236698.5	Missense_Mutation	SNP	3 : 136068110 - 136068110 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	503	105
ZNF71	58491	broad.mit.edu	37	19	57134102	57134102	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57134102C>T	ENST00000328070.6	+	3	1681	c.1447C>T	c.(1447-1449)Cgc>Tgc	p.R483C		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	483						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GAACCTGACGCGCCACCTGCG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	45	44			NA	NA	19		NA											NA				57134102		2203	4300	6503	SO:0001583	missense			X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951	58491	58491		Zinc fingers, C2H2-type	13141	protein-coding gene	gene with protein product		194545	zinc finger protein 71 (Cos26)		NA	1639391	Standard	NM_021216	NM_021216	NA	Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.1447C>T	19.37:g.57134102C>T	ENSP00000328245:p.Arg483Cys	NA	Q15919|Q9UC09|Q9UQD3	37	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914312	0.52546	.	.	ENSG00000197951	ENST00000328070	T	0.31247	1.5	3.11	0.856	0.19019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31136	0.0787	M	0.76433	2.335	0.09310	N	0.999995	B	0.29508	0.246	B	0.17433	0.018	T	0.21895	-1.0232	9	0.59425	D	0.04	.	10.2854	0.43564	0.4993:0.5006:0.0:0.0	.	483	Q9NQZ8	ZNF71_HUMAN	C	483	ENSP00000328245:R483C	ENSP00000328245:R483C	R	+	1	0	ZNF71	61825914	0.000000	0.05858	0.986000	0.45419	0.981000	0.71138	-1.191000	0.03055	0.313000	0.23062	0.561000	0.74099	CGC	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459798.2		+	ENST00000328070.6	Missense_Mutation	SNP	19 : 57134102 - 57134102 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	457	62
WDR47	22911	broad.mit.edu	37	1	109554167	109554167	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109554167C>A	ENST00000369965.4	-	5	761	c.501G>T	c.(499-501)gaG>gaT	p.E167D	WDR47_ENST00000357672.3_Missense_Mutation_p.E139D|WDR47_ENST00000369962.3_Missense_Mutation_p.E167D|WDR47_ENST00000400794.3_Missense_Mutation_p.E174D|WDR47_ENST00000361054.3_Missense_Mutation_p.E139D	NM_001142550.1|NM_001142551.1|NM_014969.5	NP_001136022.1|NP_001136023.1|NP_055784.3	O94967	WDR47_HUMAN	WD repeat domain 47	167										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TGACACAAGCCTCTTCAAAAC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													207	210	209			NA	NA	1		NA											NA				109554167		2203	4296	6499	SO:0001583	missense			AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433	22911	22911		WD repeat domain containing	29141	protein-coding gene	gene with protein product		615734			NA	10048485	Standard	NM_014969	NM_014969	NA	Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369965.4:c.501G>T	1.37:g.109554167C>A	ENSP00000358982:p.Glu167Asp	NA	Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	37	CCDS30787.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140674	0.56936	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672;ENST00000530772	T;T;T;T;T	0.58652	0.32;0.37;0.32;0.32;0.32	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.59514	0.2199	L	0.42686	1.345	0.58432	D	0.999996	D;D;D;D	0.69078	0.99;0.997;0.997;0.99	D;D;D;D	0.73380	0.98;0.978;0.978;0.98	T	0.60576	-0.7236	10	0.45353	T	0.12	-5.7323	12.8243	0.57710	0.0:0.9149:0.0:0.0851	.	139;174;167;167	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	D	174;167;139;167;139;167	ENSP00000383599:E174D;ENSP00000358979:E167D;ENSP00000354339:E139D;ENSP00000358982:E167D;ENSP00000350301:E139D	ENSP00000350301:E139D	E	-	3	2	WDR47	109355690	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.446000	0.44908	2.481000	0.83766	0.563000	0.77884	GAG	WDR47-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032413.2		-	ENST00000369965.4	Missense_Mutation	SNP	1 : 109554167 - 109554167 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1082	117
TNFRSF1A	7132	broad.mit.edu	37	12	6438717	6438717	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6438717G>A	ENST00000162749.2	-	10	1428	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.R334C	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	377	Death.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						AGCCCTAGGCGCCGCACGAAT	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	16	16			NA	NA	12		NA											NA				6438717		2201	4295	6496	SO:0001583	missense			M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182	7132	7132		Tumor necrosis factor receptor superfamily, CD molecules	11916	protein-coding gene	gene with protein product		191190		TNFR1	NA	1655358, 2158863	Standard	NM_001065	NM_001065	NA	Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.1129C>T	12.37:g.6438717G>A	ENSP00000162749:p.Arg377Cys	NA	A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|D3DUR1|Q9UCA4	37	CCDS8542.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341803	0.81911	.	.	ENSG00000067182	ENST00000162749;ENST00000540022	D;D	0.85773	-2.03;-2.03	4.88	3.97	0.46021	Death (3);DEATH-like (2);	0.519751	0.21185	N	0.078750	D	0.89969	0.6869	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.938;0.973	D	0.88600	0.3149	10	0.41790	T	0.15	-18.7777	11.7065	0.51599	0.0893:0.0:0.9107:0.0	.	334;377	F5H061;P19438	.;TNR1A_HUMAN	C	377;334	ENSP00000162749:R377C;ENSP00000438343:R334C	ENSP00000162749:R377C	R	-	1	0	TNFRSF1A	6308978	1.000000	0.71417	0.746000	0.31095	0.990000	0.78478	3.202000	0.51067	1.138000	0.42230	0.561000	0.74099	CGC	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399038.1		-	ENST00000162749.2	Missense_Mutation	SNP	12 : 6438717 - 6438717 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	110	19
NOP56	10528	broad.mit.edu	37	20	2636275	2636275	+	Silent	SNP	C	C	T	rs147425088	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2636275C>T	ENST00000329276.5	+	7	1308	c.792C>T	c.(790-792)atC>atT	p.I264I		NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	264	Nop.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding	p.I264I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						TGATAAACATCGAGAGCTTCT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)						C		4,4402	8.1+/-20.4	0,4,2199	157	151	153		792	-0.6	1	20	dbSNP_134	153	0,8600		0,0,4300	no	coding-synonymous	NOP56	NM_006392.3		0,4,6499	TT,TC,CC	NA	0.0,0.0908,0.0308		264/595	2636275	4,13002	2203	4300	6503	SO:0001819	synonymous_variant			Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361	10528	10528			15911	protein-coding gene	gene with protein product	spinocerebellar ataxia 36	614154	nucleolar protein 5A (56kD with KKE/D repeat), nucleolar protein 5A (56kDa with KKE/D repeat), NOP56 ribonucleoprotein homolog (yeast)	NOL5A	NA	9372940, 21683323	Standard	NM_006392	NR_027700	NA	Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.792C>T	20.37:g.2636275C>T		NA	Q2M3T6|Q9NQ05	37	CCDS13030.1	.	.	.	.	.	.	.	.	.	.	C	7.425	0.637467	0.14386	9.08E-4	0.0	ENSG00000101361	ENST00000415272	.	.	.	4.9	-0.592	0.11671	.	.	.	.	.	T	0.44008	0.1273	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26224	-1.0109	4	.	.	.	-15.8854	4.1248	0.10123	0.1696:0.339:0.0:0.4913	.	.	.	.	L	5	.	.	S	+	2	0	NOP56	2584275	0.809000	0.29036	0.998000	0.56505	0.992000	0.81027	-0.068000	0.11561	0.024000	0.15214	-0.258000	0.10820	TCG	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077631.2		+	ENST00000329276.5	Silent	SNP	20 : 2636275 - 2636275 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	657	121
AQP7	364	broad.mit.edu	37	9	33385652	33385652	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33385652G>A	ENST00000541274.1	-	5	792	c.343C>T	c.(343-345)Ctt>Ttt	p.L115F	AQP7_ENST00000537089.1_Silent_p.V154V|AQP7_ENST00000377425.4_Silent_p.V189V|AQP7_ENST00000539936.1_Silent_p.V246V			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	p.V246V(1)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		AGTACCTGAAGACCTGTTTGC	0.607		NA												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)											62	69	67			NA	NA	9		NA											NA				33385652		2203	4299	6502	SO:0001583	missense			AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269	364	364		Ion channels / Aquaporins	640	protein-coding gene	gene with protein product		602974		AQP7L	NA	9252401	Standard	NM_001170	NM_001170	NA	Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.343C>T	9.37:g.33385652G>A	ENSP00000438860:p.Leu115Phe	NA	Q5T5L9|Q8NHM3	37		.	.	.	.	.	.	.	.	.	.	g	5.491	0.275672	0.10403	.	.	ENSG00000165269	ENST00000541274	T	0.57273	0.41	5.04	-0.0464	0.13847	.	.	.	.	.	T	0.37404	0.1002	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.16571	-1.0398	8	0.87932	D	0	-25.9005	3.6599	0.08234	0.1728:0.4699:0.2451:0.1121	.	115	B7Z7F6	.	F	115	ENSP00000438860:L115F	ENSP00000438860:L115F	L	-	1	0	AQP7	33375652	0.004000	0.15560	0.966000	0.40874	0.292000	0.27327	-1.343000	0.02642	-0.168000	0.10853	-0.232000	0.12228	CTT	AQP7-204	KNOWN	basic	protein_coding	NA	protein_coding			-	ENST00000541274.1	Missense_Mutation	SNP	9 : 33385652 - 33385652 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	745	104
ABLIM3	22885	broad.mit.edu	37	5	148637959	148637959	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148637959C>T	ENST00000506113.1	+	23	2526	c.2044C>T	c.(2044-2046)Ctg>Ttg	p.L682L	ABLIM3_ENST00000309868.7_Silent_p.L682L|ABLIM3_ENST00000504238.1_Intron|ABLIM3_ENST00000517451.1_Silent_p.L168L|ABLIM3_ENST00000508983.1_Silent_p.L649L|ABLIM3_ENST00000326685.7_Silent_p.L587L|RP11-331K21.1_ENST00000512647.2_RNA|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000356541.3_Intron|RP11-331K21.1_ENST00000522685.1_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	682	HP.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAGCCCGGCTGTTCTAGGC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	46	46			NA	NA	5		NA											NA				148637959		2203	4300	6503	SO:0001819	synonymous_variant			AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210	22885	22885			29132	protein-coding gene	gene with protein product		611305			NA		Standard	NM_014945	XM_005268392	NA	Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.2044C>T	5.37:g.148637959C>T		NA	A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	37	CCDS4294.1																																																																																			ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373435.1		+	ENST00000506113.1	Silent	SNP	5 : 148637959 - 148637959 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	290	59
LETM1	3954	broad.mit.edu	37	4	1824770	1824770	+	Missense_Mutation	SNP	G	G	A	rs139115587		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1824770G>A	ENST00000302787.2	-	9	1717	c.1421C>T	c.(1420-1422)gCg>gTg	p.A474V		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	474					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CTGGATGGCCGCCTCCTCCTG	0.657		NA											G	2	9e-04	NA	NA	2184	0.0035	0.9998	,	,	NA	5e-04	NA	NA	NA	0.001	0.8893	EXOME	NA	NA	0.0016	SNP								NA				0								G	VAL/ALA	0,4406		0,0,2203	75	70	72		1421	3.9	1	4	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	yes	missense	LETM1	NM_012318.2	64	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	474/740	1824770	1,13005	2203	4300	6503	SO:0001583	missense			AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924	3954	3954		EF-hand domain containing	6556	protein-coding gene	gene with protein product	Mdm38 homolog (yeast)	604407			NA	10486213	Standard		NM_012318	NA	Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.1421C>T	4.37:g.1824770G>A	ENSP00000305653:p.Ala474Val	NA	B4DED2|Q9UF65	37	CCDS3355.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	13.44	2.237076	0.39498	0.0	1.16E-4	ENSG00000168924	ENST00000302787	.	.	.	4.78	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.55955	0.1953	M	0.65498	2.005	0.53688	D	0.999977	D	0.67145	0.996	B	0.43251	0.413	T	0.58092	-0.7697	9	0.37606	T	0.19	-21.2189	13.297	0.60303	0.0:0.0:0.5072:0.4928	.	474	O95202	LETM1_HUMAN	V	474	.	ENSP00000305653:A474V	A	-	2	0	LETM1	1794568	0.283000	0.24277	0.997000	0.53966	0.836000	0.47400	0.929000	0.28844	0.916000	0.36871	0.491000	0.48974	GCG	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000241634.1		-	ENST00000302787.2	Missense_Mutation	SNP	4 : 1824770 - 1824770 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	584	123
CYP39A1	51302	broad.mit.edu	37	6	46563770	46563770	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46563770G>T	ENST00000275016.2	-	8	1222	c.1019C>A	c.(1018-1020)gCt>gAt	p.A340D		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	340					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						GACACCAGGAGCTTTTAAACG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	100	97			NA	NA	6		NA											NA				46563770		2203	4300	6503	SO:0001583	missense			AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233	51302	51302		Cytochrome P450s	17449	protein-coding gene	gene with protein product		605994	cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1		NA	10748047	Standard		NM_016593	NA	Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.1019C>A	6.37:g.46563770G>T	ENSP00000275016:p.Ala340Asp	NA	Q5VTT0|Q96FW5	37	CCDS4916.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870297	0.72065	.	.	ENSG00000146233	ENST00000275016	T	0.66995	-0.24	5.7	4.81	0.61882	.	0.299368	0.31734	N	0.007156	T	0.71829	0.3386	M	0.72894	2.215	0.41562	D	0.988633	D;D	0.60575	0.988;0.988	P;P	0.60886	0.88;0.88	T	0.76329	-0.2999	10	0.59425	D	0.04	-5.92	14.1785	0.65559	0.0:0.0:0.8503:0.1497	.	320;340	B7Z786;Q9NYL5	.;CP39A_HUMAN	D	340	ENSP00000275016:A340D	ENSP00000275016:A340D	A	-	2	0	CYP39A1	46671729	1.000000	0.71417	0.990000	0.47175	0.836000	0.47400	4.444000	0.60001	1.344000	0.45657	0.557000	0.71058	GCT	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040787.1		-	ENST00000275016.2	Missense_Mutation	SNP	6 : 46563770 - 46563770 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	424	101
CEACAM6	4680	broad.mit.edu	37	19	42260853	42260853	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42260853A>G	ENST00000199764.6	+	2	628	c.410A>G	c.(409-411)cAg>cGg	p.Q137R	CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	137	Ig-like V-type.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		GCAACCGGACAGTTCCATGTA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													273	269	270			NA	NA	19		NA											NA				42260853		2203	4300	6503	SO:0001583	missense			M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548	4680	4680		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	1818	protein-coding gene	gene with protein product		163980		NCA	NA		Standard		NM_002483	NA	Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.410A>G	19.37:g.42260853A>G	ENSP00000199764:p.Gln137Arg	NA	Q13774|Q14920|Q53XP7	37	CCDS12585.1	.	.	.	.	.	.	.	.	.	.	A	1.897	-0.454152	0.04540	.	.	ENSG00000086548	ENST00000199764	T	0.64991	-0.13	2.15	-0.616	0.11583	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52613	0.1745	L	0.60067	1.865	0.09310	N	1	B	0.02656	0.0	B	0.15052	0.012	T	0.35525	-0.9785	9	0.30854	T	0.27	.	6.975	0.24670	0.7167:0.0:0.2833:0.0	.	137	P40199	CEAM6_HUMAN	R	137	ENSP00000199764:Q137R	ENSP00000199764:Q137R	Q	+	2	0	CEACAM6	46952693	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.716000	0.25836	-1.127000	0.02925	-1.889000	0.00537	CAG	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321147.1		+	ENST00000199764.6	Missense_Mutation	SNP	19 : 42260853 - 42260853 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1664	281
JAM2	58494	broad.mit.edu	37	21	27071173	27071173	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27071173T>C	ENST00000480456.1	+	5	1129	c.579T>C	c.(577-579)aaT>aaC	p.N193N	JAM2_ENST00000400532.1_Silent_p.N193N|JAM2_ENST00000425221.2_Silent_p.N157N|JAM2_ENST00000312957.5_Silent_p.N193N	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	193	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						ACACAATGAATACAAAAACTG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	102	104			NA	NA	21		NA											NA				27071173		1878	4104	5982	SO:0001819	synonymous_variant			AF255910	CCDS42911.1, CCDS58787.1, CCDS58788.1	21q21.2	2013-01-11			ENSG00000154721	ENSG00000154721	58494	58494		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing	14686	protein-coding gene	gene with protein product		606870		C21orf43	NA	10779521, 10945976	Standard		NM_021219	NA	Approved	VE-JAM, JAM-B, JAMB, CD322	uc031rvc.1	P57087	OTTHUMG00000078441	ENST00000480456.1:c.579T>C	21.37:g.27071173T>C		NA	B2R6T9|Q6UXG6|Q6YNC1	37	CCDS42911.1																																																																																			JAM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000171347.1		+	ENST00000480456.1	Silent	SNP	21 : 27071173 - 27071173 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	585	116
CCNYL1	151195	broad.mit.edu	37	2	208589556	208589556	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:208589556C>T	ENST00000295414.3	+	2	464	c.253C>T	c.(253-255)Cca>Tca	p.P85S	CCNYL1_ENST00000392209.3_Missense_Mutation_p.P15S|CCNYL1_ENST00000339882.5_Missense_Mutation_p.P85S			Q8N7R7	CCYL1_HUMAN	cyclin Y-like 1	85					regulation of cyclin-dependent protein kinase activity		protein kinase binding			endometrium(1)|large_intestine(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)		TTCTGACCATCCAAGGGCAAG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	75	77			NA	NA	2		NA											NA				208589556		2203	4300	6503	SO:0001583	missense			AK095479	CCDS2377.1, CCDS46503.1	2q33.3	2008-02-05			ENSG00000163249	ENSG00000163249	151195	151195			26868	protein-coding gene	gene with protein product					NA		Standard	NM_152523	NM_152523	NA	Approved	FLJ40432	uc002vci.3	Q8N7R7	OTTHUMG00000132946	ENST00000295414.3:c.253C>T	2.37:g.208589556C>T	ENSP00000295414:p.Pro85Ser	NA	Q6NX60	37		.	.	.	.	.	.	.	.	.	.	C	20.1	3.937146	0.73557	.	.	ENSG00000163249	ENST00000392209;ENST00000295414;ENST00000339882	T;T;T	0.48201	1.2;1.78;0.82	4.7	4.7	0.59300	.	0.129554	0.52532	U	0.000068	T	0.71169	0.3308	M	0.82823	2.61	0.42683	D	0.993554	D;D	0.71674	0.998;0.996	D;D	0.70487	0.969;0.931	T	0.77413	-0.2597	10	0.72032	D	0.01	.	17.5865	0.87983	0.0:1.0:0.0:0.0	.	85;85	Q8N7R7-2;Q8N7R7	.;CCYL1_HUMAN	S	15;85;85	ENSP00000376045:P15S;ENSP00000295414:P85S;ENSP00000342344:P85S	ENSP00000295414:P85S	P	+	1	0	CCNYL1	208297801	0.999000	0.42202	0.998000	0.56505	0.994000	0.84299	3.083000	0.50136	2.321000	0.78463	0.555000	0.69702	CCA	CCNYL1-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000337062.1		+	ENST00000295414.3	Missense_Mutation	SNP	2 : 208589556 - 208589556 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	171	32
OSBPL1A	114876	broad.mit.edu	37	18	21805159	21805159	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21805159G>T	ENST00000319481.3	-	17	1654	c.1448C>A	c.(1447-1449)tCc>tAc	p.S483Y	OSBPL1A_ENST00000399443.3_5'UTR|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.S101Y	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	483					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TTCGGACTCGGAATCTGTGGC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	60	63			NA	NA	18		NA											NA				21805159		2203	4300	6503	SO:0001583	missense			AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447	114876	114876		Oxysterol binding proteins, Ankyrin repeat domain containing	16398	protein-coding gene	gene with protein product		606730	oxysterol binding protein-like 1B	OSBPL1B	NA	11279184, 10588946	Standard	NM_080597	NM_080597	NA	Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.1448C>A	18.37:g.21805159G>T	ENSP00000320291:p.Ser483Tyr	NA	Q9BZF5|Q9NW87	37	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.832775	0.71258	.	.	ENSG00000141447	ENST00000319481;ENST00000357041	T;T	0.49720	0.77;0.82	5.98	5.11	0.69529	.	.	.	.	.	T	0.65491	0.2696	M	0.72118	2.19	0.80722	D	1	D;D	0.71674	0.998;0.971	D;P	0.64042	0.921;0.641	T	0.66685	-0.5861	9	0.41790	T	0.15	-18.226	15.6561	0.77136	0.0:0.1364:0.8636:0.0	.	483;483	B0YJ56;Q9BXW6	.;OSBL1_HUMAN	Y	483;101	ENSP00000320291:S483Y;ENSP00000349545:S101Y	ENSP00000320291:S483Y	S	-	2	0	OSBPL1A	20059157	1.000000	0.71417	0.993000	0.49108	0.858000	0.48976	6.355000	0.73041	1.518000	0.48934	0.655000	0.94253	TCC	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254902.1		-	ENST00000319481.3	Missense_Mutation	SNP	18 : 21805159 - 21805159 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	48
PTGFR	5737	broad.mit.edu	37	1	79002130	79002130	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:79002130C>A	ENST00000370757.3	+	3	1075	c.838C>A	c.(838-840)Ctg>Atg	p.L280M	PTGFR_ENST00000370756.3_3'UTR|PTGFR_ENST00000370758.1_Missense_Mutation_p.L280M	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	280					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	AAATCATTCTCTGGAAACCTG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	109	107			NA	NA	1		NA											NA				79002130		2203	4300	6503	SO:0001583	missense			AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420	5737	5737		GPCR / Class A : Prostanoid receptors	9600	protein-coding gene	gene with protein product		600563			NA	8300593, 7759114	Standard	NM_000959	XM_006710781	NA	Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.838C>A	1.37:g.79002130C>A	ENSP00000359793:p.Leu280Met	NA	A8K9Y0|Q2KHP3|Q9P1X4	37	CCDS686.1	.	.	.	.	.	.	.	.	.	.	C	7.557	0.663819	0.14710	.	.	ENSG00000122420	ENST00000370758;ENST00000370757	T;T	0.73152	-0.72;-0.72	5.66	-0.169	0.13339	GPCR, rhodopsin-like superfamily (1);	1.923520	0.02399	N	0.080461	T	0.36220	0.0959	L	0.34521	1.04	0.09310	N	1	P	0.43938	0.822	B	0.37508	0.252	T	0.26503	-1.0101	10	0.46703	T	0.11	5.3371	4.3889	0.11330	0.4355:0.356:0.0867:0.1217	.	280	P43088	PF2R_HUMAN	M	280	ENSP00000359794:L280M;ENSP00000359793:L280M	ENSP00000359793:L280M	L	+	1	2	PTGFR	78774718	0.000000	0.05858	0.002000	0.10522	0.392000	0.30506	-0.129000	0.10515	0.057000	0.16193	0.655000	0.94253	CTG	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026582.1		+	ENST00000370757.3	Missense_Mutation	SNP	1 : 79002130 - 79002130 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	518	40
IRS4	8471	broad.mit.edu	37	X	107979287	107979287	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107979287G>A	ENST00000372129.2	-	1	364	c.288C>T	c.(286-288)ttC>ttT	p.F96F	RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	96	PH.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GTTTGAGCACGAAGTAGCGCC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	58	62			NA	NA	X		NA											NA				107979287		2200	4298	6498	SO:0001819	synonymous_variant			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124	8471	8471			6128	protein-coding gene	gene with protein product		300904			NA	9261155, 9553137	Standard	NM_003604	NM_003604	NA	Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.288C>T	X.37:g.107979287G>A		NA		37	CCDS14544.1																																																																																			IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057879.1		-	ENST00000372129.2	Silent	SNP	X : 107979287 - 107979287 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	652	24
CYP2C18	1562	broad.mit.edu	37	10	96484190	96484190	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96484190C>A	ENST00000285979.6	+	7	1248	c.1049C>A	c.(1048-1050)gCt>gAt	p.A350D	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.A291D	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18	NA										NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TACACAGATGCTGTGGTGCAC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													247	202	217			NA	NA	10		NA											NA				96484190		2203	4300	6503	SO:0001583	missense			M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242	1562	1562		Cytochrome P450s	2620	protein-coding gene	gene with protein product		601131	cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18	CYP2C17	NA	1896026, 2009263	Standard	NM_000772	NM_000772	NA	Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.1049C>A	10.37:g.96484190C>A	ENSP00000285979:p.Ala350Asp	NA		37	CCDS7435.1	.	.	.	.	.	.	.	.	.	.	c	16.43	3.121808	0.56613	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	T;T	0.73258	-0.73;-0.73	4.15	4.15	0.48705	.	0.000000	0.85682	U	0.000000	D	0.90981	0.7164	H	0.99634	4.67	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.943	D	0.94486	0.7697	10	0.87932	D	0	.	13.9702	0.64235	0.0:1.0:0.0:0.0	.	291;350	Q4VAT5;P33260	.;CP2CI_HUMAN	D	291;350	ENSP00000341293:A291D;ENSP00000285979:A350D	ENSP00000285979:A350D	A	+	2	0	CYP2C18	96474180	1.000000	0.71417	0.078000	0.20375	0.093000	0.18481	5.162000	0.64942	2.115000	0.64714	0.313000	0.20887	GCT	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049486.1		+	ENST00000285979.6	Missense_Mutation	SNP	10 : 96484190 - 96484190 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	714	135
FZD1	8321	broad.mit.edu	37	7	90895964	90895964	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:90895964C>T	ENST00000287934.2	+	1	2182	c.1769C>T	c.(1768-1770)gCc>gTc	p.A590V		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	590					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GGCGGAGGCGCCCCGCCGCAC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	21	21			NA	NA	7		NA											NA				90895964		2200	4294	6494	SO:0001583	missense			AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240	8321	8321		GPCR / Class F : Frizzled receptors	4038	protein-coding gene	gene with protein product	Wnt receptor, frizzled, Drosophila, homolog of, 1	603408	frizzled (Drosophila) homolog 1, frizzled homolog 1 (Drosophila), frizzled 1, seven transmembrane spanning receptor, frizzled family receptor 1		NA	9813155	Standard	NM_003505	NM_003505	NA	Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1769C>T	7.37:g.90895964C>T	ENSP00000287934:p.Ala590Val	NA	A4D1E8|O94815|Q549T8	37	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.633820	0.29068	.	.	ENSG00000157240	ENST00000287934	T	0.76839	-1.05	4.73	2.75	0.32379	GPCR, family 2-like (1);	0.677726	0.12176	N	0.492570	T	0.62986	0.2473	L	0.34521	1.04	0.25896	N	0.983419	B	0.02656	0.0	B	0.01281	0.0	T	0.47898	-0.9081	10	0.23891	T	0.37	.	5.3639	0.16103	0.0:0.6788:0.2083:0.1129	.	590	Q9UP38	FZD1_HUMAN	V	590	ENSP00000287934:A590V	ENSP00000287934:A590V	A	+	2	0	FZD1	90733900	0.400000	0.25295	0.984000	0.44739	0.993000	0.82548	0.298000	0.19120	1.312000	0.45043	0.655000	0.94253	GCC	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059367.2		+	ENST00000287934.2	Missense_Mutation	SNP	7 : 90895964 - 90895964 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	54
GLB1L2	89944	broad.mit.edu	37	11	134238539	134238539	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134238539G>T	ENST00000535456.2	+	10	1079	c.891G>T	c.(889-891)gaG>gaT	p.E297D	GLB1L2_ENST00000389881.3_Splice_Site_p.E297D|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Splice_Site_p.E297D	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	297					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CTCCGGCAGAGGTTTTGAAAA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	72	72			NA	NA	11		NA											NA				134238539		2201	4297	6498	SO:0001630	splice_region_variant				CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328	89944	89944			25129	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_138342	NM_138342	NA	Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.890-1G>T	11.37:g.134238539G>T		NA	A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	37	CCDS31724.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.302|3.302	-0.142586|-0.142586	0.06669|0.06669	.|.	.|.	ENSG00000149328|ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881|ENST00000525089;ENST00000533324	D;D;D|.	0.97752|.	-4.52;-4.52;-4.52|.	5.19|5.19	0.61|0.61	0.17580|0.17580	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);|.	0.220925|.	0.46442|.	D|.	0.000296|.	T|T	0.19446|0.19446	0.0467|0.0467	N|N	0.05351|0.05351	-0.065|-0.065	0.32055|0.32055	N|N	0.596416|0.596416	B|.	0.11235|.	0.004|.	B|.	0.16289|.	0.015|.	T|T	0.32322|0.32322	-0.9911|-0.9911	10|5	0.17832|.	T|.	0.49|.	.|.	5.6384|5.6384	0.17550|0.17550	0.2586:0.0:0.5583:0.1832|0.2586:0.0:0.5583:0.1832	.|.	297|.	Q8IW92|.	GLBL2_HUMAN|.	D|C	297|236;125	ENSP00000344659:E297D;ENSP00000444628:E297D;ENSP00000374531:E297D|.	ENSP00000344659:E297D|.	E|G	+|+	3|1	2|0	GLB1L2|GLB1L2	133743749|133743749	0.304000|0.304000	0.24472|0.24472	0.910000|0.910000	0.35882|0.35882	0.196000|0.196000	0.23810|0.23810	-0.606000|-0.606000	0.05654|0.05654	0.187000|0.187000	0.20147|0.20147	0.655000|0.655000	0.94253|0.94253	GAG|GGT	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393629.2	Missense_Mutation	+	ENST00000535456.2	Splice_Site	SNP	11 : 134238539 - 134238539 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	523	37
TTN	7273	broad.mit.edu	37	2	179584922	179584922	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179584922G>A	ENST00000589042.1	-	81	23671	c.23447C>T	c.(23446-23448)gCc>gTc	p.A7816V	TTN_ENST00000591111.1_Missense_Mutation_p.A7499V|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A6572V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7499	Ig-like 60.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCCACTATGGCCCGTAACTC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	89	90			NA	NA	2		NA											NA				179584922		1861	4104	5965	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.23447C>T	2.37:g.179584922G>A	ENSP00000467141:p.Ala7816Val	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	G	7.240	0.601000	0.13939	.	.	ENSG00000155657	ENST00000342992	T	0.39056	1.1	5.76	5.76	0.90799	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52821	0.1758	L	0.43923	1.385	0.80722	D	1	D	0.69078	0.997	P	0.54346	0.749	T	0.53450	-0.8437	9	0.87932	D	0	.	19.964	0.97260	0.0:0.0:1.0:0.0	.	7499	Q8WZ42	TITIN_HUMAN	V	6572	ENSP00000343764:A6572V	ENSP00000343764:A6572V	A	-	2	0	TTN	179293167	0.198000	0.23374	0.585000	0.28666	0.075000	0.17131	2.688000	0.46984	2.721000	0.93114	0.650000	0.86243	GCC	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179584922 - 179584922 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	327	85
COL4A2	1284	broad.mit.edu	37	13	111164356	111164356	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111164356A>C	ENST00000360467.5	+	48	5263	c.4957A>C	c.(4957-4959)Aca>Cca	p.T1653P		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1653	Collagen IV NC1.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CTTCCGCGCCACACCATTCAT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	69	66			NA	NA	13		NA											NA				111164356		2125	4245	6370	SO:0001583	missense			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871	1284	1284		Collagens	2203	protein-coding gene	gene with protein product	canstatin, collagen type IV alpha 2	120090			NA	2439508, 3025878	Standard	NM_001846	NM_001846	NA	Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.4957A>C	13.37:g.111164356A>C	ENSP00000353654:p.Thr1653Pro	NA	Q14052|Q548C3|Q5VZA9|Q66K23	37	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.815592	0.50527	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.94613	-3.47	4.91	4.91	0.64330	C-type lectin fold (1);	0.000000	0.53938	D	0.000060	D	0.97349	0.9133	M	0.86740	2.835	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.97832	1.0263	10	0.56958	D	0.05	.	14.5597	0.68126	1.0:0.0:0.0:0.0	.	1653	P08572	CO4A2_HUMAN	P	1653	ENSP00000353654:T1653P	ENSP00000257309:T1653P	T	+	1	0	COL4A2	109962357	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.969000	0.76092	1.833000	0.53350	0.459000	0.35465	ACA	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045761.2		+	ENST00000360467.5	Missense_Mutation	SNP	13 : 111164356 - 111164356 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	437	51
CHST3	9469	broad.mit.edu	37	10	73767332	73767332	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73767332C>T	ENST00000373115.4	+	3	980	c.543C>T	c.(541-543)gcC>gcT	p.A181A		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	181					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity			endometrium(1)|lung(5)	6						GCGCCAACGCCGCGGGCTCGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	21	21			NA	NA	10		NA											NA				73767332		2200	4298	6498	SO:0001819	synonymous_variant			AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863	9469	9469		Sulfotransferases, membrane-bound	1971	protein-coding gene	gene with protein product		603799			NA	9883891, 9714738	Standard	NM_004273	NM_004273	NA	Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.543C>T	10.37:g.73767332C>T		NA	O75099|Q52M30	37	CCDS7312.1																																																																																			CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048563.1		+	ENST00000373115.4	Silent	SNP	10 : 73767332 - 73767332 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	166	15
CMKLR1	1240	broad.mit.edu	37	12	108686528	108686528	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108686528T>A	ENST00000312143.7	-	3	575	c.212A>T	c.(211-213)aAg>aTg	p.K71M	CMKLR1_ENST00000397688.2_Missense_Mutation_p.K69M|CMKLR1_ENST00000552995.1_Missense_Mutation_p.K69M|CMKLR1_ENST00000550402.1_Missense_Mutation_p.K71M|CMKLR1_ENST00000412676.1_Missense_Mutation_p.K71M	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	71					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GTTCACTGTCTTCTTCATCTT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	135	135			NA	NA	12		NA											NA				108686528		2040	4194	6234	SO:0001583	missense			U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600	1240	1240		GPCR / Class A : Resolvin receptors	2121	protein-coding gene	gene with protein product	resolvin E1 receptor, chemerin receptor	602351			NA		Standard		NM_004072	NA	Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.212A>T	12.37:g.108686528T>A	ENSP00000311733:p.Lys71Met	NA	A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	37	CCDS44965.1	.	.	.	.	.	.	.	.	.	.	t	17.48	3.400342	0.62177	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402;ENST00000550573;ENST00000549466	T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.0	2.4	0.29515	GPCR, rhodopsin-like superfamily (1);	0.159847	0.53938	D	0.000046	T	0.58481	0.2125	M	0.74258	2.255	0.40904	D	0.984177	D	0.76494	0.999	D	0.73380	0.98	T	0.57757	-0.7756	10	0.87932	D	0	.	7.4535	0.27252	0.0:0.2193:0.0:0.7807	.	71	Q99788	CML1_HUMAN	M	71;71;69;69;71;71;71	ENSP00000311733:K71M;ENSP00000401293:K71M;ENSP00000380803:K69M;ENSP00000447579:K69M;ENSP00000449716:K71M;ENSP00000448925:K71M;ENSP00000448362:K71M	ENSP00000311733:K71M	K	-	2	0	CMKLR1	107210658	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	0.820000	0.27323	0.177000	0.19895	0.387000	0.25754	AAG	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404867.1		-	ENST00000312143.7	Missense_Mutation	SNP	12 : 108686528 - 108686528 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	400	78
PASK	23178	broad.mit.edu	37	2	242062165	242062165	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242062165G>A	ENST00000403638.3	-	12	3145	c.3054C>T	c.(3052-3054)gaC>gaT	p.D1018D	PASK_ENST00000358649.4_Silent_p.D1018D|PASK_ENST00000539818.1_Silent_p.D802D|PASK_ENST00000544142.1_Silent_p.D832D|PASK_ENST00000405260.1_Silent_p.D1018D|PASK_ENST00000234040.4_Silent_p.D1018D	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1018	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		TTTTTTCCTTGTCCACAGCAG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	94	91			NA	NA	2		NA											NA				242062165		2203	4300	6503	SO:0001819	synonymous_variant			U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687	23178	23178			17270	protein-coding gene	gene with protein product		607505			NA	11688972, 11459942, 15148392	Standard	NM_015148	NM_001252119	NA	Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000403638.3:c.3054C>T	2.37:g.242062165G>A		NA	Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	37	CCDS58758.1																																																																																			PASK-002	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323752.1		-	ENST00000403638.3	Silent	SNP	2 : 242062165 - 242062165 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	778	61
LRRC42	115353	broad.mit.edu	37	1	54433606	54433606	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54433606C>A	ENST00000371370.3	+	9	1802	c.1281C>A	c.(1279-1281)tcC>tcA	p.S427S	LRRC42_ENST00000319223.4_Silent_p.S427S	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	427				KYVCLAVEDWDLLNSY -> IFLLLWCGRGMLWKYVIISNV YFQYIVIFSNKHFCCP (in Ref. 1).						breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						TGTTAAATTCCTATTGATTAG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	83	81			NA	NA	1		NA											NA				54433606		2203	4300	6503	SO:0001819	synonymous_variant			AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212	115353	115353			28792	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_052940	NM_001256409	NA	Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.1281C>A	1.37:g.54433606C>A		NA	D3DQ46|Q8N2Q8	37	CCDS585.1																																																																																			LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000023250.1		+	ENST00000371370.3	Silent	SNP	1 : 54433606 - 54433606 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	376	34
MXD4	10608	broad.mit.edu	37	4	2263663	2263663	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2263663G>A	ENST00000337190.2	-	1	358	c.45C>T	c.(43-45)taC>taT	p.Y15Y	MXD4_ENST00000515378.1_5'UTR	NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	15	Interaction with SIN3A and SIN3B (By similarity).				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						TGCGCTCCAGGTACTCGGCCG	0.801		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													5	6	6			NA	NA	4		NA											NA				2263663		1657	3206	4863	SO:0001819	synonymous_variant				CCDS3361.1	4p16.3	2008-08-19			ENSG00000123933	ENSG00000123933	10608	10608		MAX dimerization proteins, Basic helix-loop-helix proteins	13906	protein-coding gene	gene with protein product					NA	8521822	Standard	NM_006454	NM_006454	NA	Approved	MAD4, MSTP149, MST149, bHLHc12	uc003geu.1	Q14582	OTTHUMG00000090243	ENST00000337190.2:c.45C>T	4.37:g.2263663G>A		NA	A2A335|Q5TZX4	37	CCDS3361.1																																																																																			MXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206519.1		-	ENST00000337190.2	Silent	SNP	4 : 2263663 - 2263663 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	78	17
PCDHA2	56146	broad.mit.edu	37	5	140176294	140176294	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140176294C>T	ENST00000520672.2	+	1	1851	c.1745C>T	c.(1744-1746)cCg>cTg	p.P582L	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Missense_Mutation_p.P582L|PCDHA2_ENST00000378132.1_Missense_Mutation_p.P582L|PCDHA1_ENST00000394633.3_Intron	NM_031496.1	NP_113684.1			protocadherin alpha 2	NA										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCTGGTGCCGTGGTCGGTG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	104	107			NA	NA	5		NA											NA				140176294		2203	4299	6502	SO:0001583	missense			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969	56146	56146		Cadherins / Protocadherins : Clustered	8668	other	complex locus constituent	KIAA0345-like 12	606308			NA	10380929	Standard	NM_018905	NM_018905	NA	Approved			Q9Y5H9		ENST00000520672.2:c.1745C>T	5.37:g.140176294C>T	ENSP00000430584:p.Pro582Leu	NA		37		.	.	.	.	.	.	.	.	.	.	c	7.812	0.715864	0.15306	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.39229	1.09;1.09;1.09	3.91	2.96	0.34315	Cadherin (1);Cadherin-like (1);	0.689444	0.11686	U	0.539348	T	0.31827	0.0809	L	0.28608	0.87	0.23351	N	0.997858	B;B;B	0.30406	0.236;0.278;0.236	B;B;B	0.24269	0.021;0.052;0.046	T	0.27331	-1.0077	10	0.59425	D	0.04	.	13.5997	0.62011	0.0:0.8437:0.1563:0.0	.	582;582;582	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	L	582	ENSP00000430584:P582L;ENSP00000367372:P582L;ENSP00000431748:P582L	ENSP00000367372:P582L	P	+	2	0	PCDHA2	140156478	0.005000	0.15991	0.006000	0.13384	0.003000	0.03518	2.184000	0.42575	1.917000	0.55516	0.549000	0.68633	CCG	PCDHA2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000374265.2		+	ENST00000520672.2	Missense_Mutation	SNP	5 : 140176294 - 140176294 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	673	127
EP400	57634	broad.mit.edu	37	12	132554069	132554069	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132554069C>T	ENST00000333577.4	+	52	9121	c.9012C>T	c.(9010-9012)ggC>ggT	p.G3004G	EP400_ENST00000389562.2_Silent_p.G2967G|EP400_ENST00000332482.4_Silent_p.G2931G|EP400_ENST00000389561.2_Silent_p.G2968G|EP400_ENST00000330386.6_Silent_p.G2887G			Q96L91	EP400_HUMAN	E1A binding protein p400	3004					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCACCCCTGGCGCGCAGCAGA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	75	75			NA	NA	12		NA											NA				132554069		2203	4300	6503	SO:0001819	synonymous_variant			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495	57634	57634			11958	protein-coding gene	gene with protein product		606265	trinucleotide repeat containing 12	TNRC12	NA	9225980, 11509179	Standard	NM_015409	NM_015409	NA	Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.9012C>T	12.37:g.132554069C>T		NA	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	37																																																																																				EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding			+	ENST00000333577.4	Silent	SNP	12 : 132554069 - 132554069 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	819	144
KDM6B	23135	broad.mit.edu	37	17	7752715	7752715	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7752715G>A	ENST00000254846.5	+	11	3498	c.3109G>A	c.(3109-3111)Gat>Aat	p.D1037N	KDM6B_ENST00000448097.2_Missense_Mutation_p.D1037N	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1037					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GTCCCGGCCCGATCTTGGCGG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	13	13			NA	NA	17		NA											NA				7752715		2180	4266	6446	SO:0001583	missense			AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510	23135	23135		Chromatin-modifying enzymes / K-demethylases	29012	protein-coding gene	gene with protein product		611577	jumonji domain containing 3, jumonji domain containing 3, histone lysine demethylase	JMJD3	NA	10662545, 9205841	Standard	XM_043272	NM_001080424	NA	Approved	KIAA0346	uc002giw.1	O15054		ENST00000254846.5:c.3109G>A	17.37:g.7752715G>A	ENSP00000254846:p.Asp1037Asn	NA	C9IZ40|Q96G33	37	CCDS32552.1	.	.	.	.	.	.	.	.	.	.	G	6.299	0.423180	0.11928	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.32753	1.44;1.44	3.67	3.67	0.42095	.	0.510853	0.15246	N	0.272627	T	0.18551	0.0445	N	0.14661	0.345	0.09310	N	1	B;B	0.25105	0.118;0.041	B;B	0.18561	0.007;0.022	T	0.11012	-1.0605	10	0.30854	T	0.27	-1.9598	13.2917	0.60274	0.0:0.0:1.0:0.0	.	1037;1037	O15054;O15054-1	KDM6B_HUMAN;.	N	1037	ENSP00000254846:D1037N;ENSP00000412513:D1037N	ENSP00000254846:D1037N	D	+	1	0	KDM6B	7693440	0.757000	0.28394	0.032000	0.17829	0.529000	0.34654	3.116000	0.50399	2.074000	0.62210	0.462000	0.41574	GAT	KDM6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000440247.1		+	ENST00000254846.5	Missense_Mutation	SNP	17 : 7752715 - 7752715 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	114	8
SNAP29	9342	broad.mit.edu	37	22	21224637	21224637	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21224637C>T	ENST00000215730.7	+	2	378	c.250C>T	c.(250-252)Cag>Tag	p.Q84*		NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	NA					cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			GCTCGCCCGTCAGCGAGGAGT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	79	82			NA	NA	22		NA											NA				21224637		2203	4300	6503	SO:0001587	stop_gained			AF115436	CCDS13784.1	22q11.21	2008-06-10	2002-08-29		ENSG00000099940	ENSG00000099940	9342	9342			11133	protein-coding gene	gene with protein product	soluble 29 kDa NSF attachment protein	604202	synaptosomal-associated protein, 29kD		NA	9852078, 10591208	Standard	NM_004782	NM_004782	NA	Approved	SNAP-29, CEDNIK	uc011ahw.2	O95721	OTTHUMG00000150765	ENST00000215730.7:c.250C>T	22.37:g.21224637C>T	ENSP00000215730:p.Gln84*	NA		37	CCDS13784.1	.	.	.	.	.	.	.	.	.	.	C	34	5.344017	0.95807	.	.	ENSG00000099940	ENST00000215730	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.9277	19.5775	0.95450	0.0:1.0:0.0:0.0	.	.	.	.	X	84	.	ENSP00000215730:Q84X	Q	+	1	0	SNAP29	19554637	1.000000	0.71417	0.993000	0.49108	0.662000	0.39071	7.747000	0.85070	2.625000	0.88918	0.591000	0.81541	CAG	SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320000.4		+	ENST00000215730.7	Nonsense_Mutation	SNP	22 : 21224637 - 21224637 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	455	63
TYR	7299	broad.mit.edu	37	11	88924508	88924508	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88924508T>G	ENST00000263321.5	+	2	1460	c.958T>G	c.(958-960)Ttt>Gtt	p.F320V	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	320					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TGATGTAGAATTTTGCCTGAG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	116	116			NA	NA	11		NA											NA				88924508		2201	4299	6500	SO:0001583	missense			M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	7299	7299	1.14.18.1		12442	protein-coding gene	gene with protein product	oculocutaneous albinism IA	606933			NA		Standard	NM_000372	NM_000372	NA	Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.958T>G	11.37:g.88924508T>G	ENSP00000263321:p.Phe320Val	NA	Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	37	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	T	13.14	2.147879	0.37923	.	.	ENSG00000077498	ENST00000263321	D	0.97232	-4.3	5.37	3.02	0.34903	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.549024	0.22235	N	0.062768	D	0.95825	0.8641	M	0.88181	2.935	0.33538	D	0.594502	B	0.32653	0.379	B	0.31946	0.138	D	0.93974	0.7252	9	.	.	.	.	4.4972	0.11842	0.1436:0.1499:0.0:0.7065	.	320	P14679	TYRO_HUMAN	V	320	ENSP00000263321:F320V	.	F	+	1	0	TYR	88564156	1.000000	0.71417	0.826000	0.32828	0.966000	0.64601	3.802000	0.55553	0.348000	0.23949	0.533000	0.62120	TTT	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394045.2		+	ENST00000263321.5	Missense_Mutation	SNP	11 : 88924508 - 88924508 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	937	46
PKP3	11187	broad.mit.edu	37	11	396980	396980	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:396980G>A	ENST00000331563.2	+	3	555	c.479G>A	c.(478-480)aGg>aAg	p.R160K	PKP3_ENST00000530695.1_3'UTR	NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	160					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATGCCCACCAGGCCCGTGTCC	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	16	15			NA	NA	11		NA											NA				396980		2171	4264	6435	SO:0001583	missense			Z98265	CCDS7695.1	11p15	2013-02-14			ENSG00000184363	ENSG00000184363	11187	11187		Armadillo repeat containing	9025	protein-coding gene	gene with protein product		605561			NA	10374265	Standard	NM_007183	XM_005252760	NA	Approved		uc001lpc.3	Q9Y446	OTTHUMG00000119068	ENST00000331563.2:c.479G>A	11.37:g.396980G>A	ENSP00000331678:p.Arg160Lys	NA	Q53EX8	37	CCDS7695.1	.	.	.	.	.	.	.	.	.	.	g	17.02	3.282506	0.59867	.	.	ENSG00000184363	ENST00000534401;ENST00000533249;ENST00000527442;ENST00000528036;ENST00000331563;ENST00000531857	T	0.80994	-1.44	3.03	3.03	0.35002	.	1.122620	0.06787	N	0.786346	T	0.78861	0.4350	L	0.50333	1.59	0.35502	D	0.799911	P	0.48764	0.915	B	0.44224	0.444	T	0.75614	-0.3257	10	0.25751	T	0.34	-26.2681	13.4207	0.60996	0.0:0.0:1.0:0.0	.	160	Q9Y446	PKP3_HUMAN	K	4;4;4;4;160;102	ENSP00000331678:R160K	ENSP00000331678:R160K	R	+	2	0	PKP3	386980	1.000000	0.71417	0.958000	0.39756	0.315000	0.28087	1.481000	0.35476	2.007000	0.58848	0.457000	0.33378	AGG	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239281.1		+	ENST00000331563.2	Missense_Mutation	SNP	11 : 396980 - 396980 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	180	44
FRMPD2	143162	broad.mit.edu	37	10	49371699	49371699	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:49371699C>A	ENST00000374201.3	-	28	3855	c.3553G>T	c.(3553-3555)Gct>Tct	p.A1185S	FRMPD2_ENST00000474573.1_Missense_Mutation_p.A137S|FRMPD2_ENST00000305531.3_Missense_Mutation_p.A1160S|FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000407470.4_Missense_Mutation_p.A1153S	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	1185					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.A1185T(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TCTTTGTCAGCTGAGAGTTCA	0.458		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)											104	112	109			NA	NA	10		NA											NA				49371699		2189	4297	6486	SO:0001583	missense			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324	143162	143162			28572	protein-coding gene	gene with protein product		613323	PDZ domain containing 5C	PDZD5C, PDZK5C	NA		Standard	NM_152428	NM_001018071	NA	Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.3553G>T	10.37:g.49371699C>A	ENSP00000363317:p.Ala1185Ser	NA	B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	37	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.674182	0.00758	.	.	ENSG00000170324	ENST00000474573;ENST00000374201;ENST00000305531;ENST00000407470	T;T;T;T	0.61742	3.65;0.14;0.08;0.08	3.75	-0.861	0.10676	.	.	.	.	.	T	0.30324	0.0761	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.13145	0.004;0.007;0.001;0.007;0.007	B;B;B;B;B	0.14578	0.01;0.011;0.001;0.011;0.01	T	0.15009	-1.0452	9	0.20519	T	0.43	.	1.0555	0.01589	0.1527:0.3824:0.2338:0.2311	.	137;1160;1185;1153;196	Q68DX3-5;Q68DX3-2;Q68DX3;F8WCT2;Q68DX3-4	.;.;FRPD2_HUMAN;.;.	S	137;1185;1160;1153	ENSP00000422446:A137S;ENSP00000363317:A1185S;ENSP00000307079:A1160S;ENSP00000384339:A1153S	ENSP00000307079:A1160S	A	-	1	0	FRMPD2	49041705	0.000000	0.05858	0.000000	0.03702	0.433000	0.31745	-0.174000	0.09839	-0.044000	0.13491	-0.347000	0.07816	GCT	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047923.3		-	ENST00000374201.3	Missense_Mutation	SNP	10 : 49371699 - 49371699 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1148	150
RACGAP1	29127	broad.mit.edu	37	12	50399109	50399109	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50399109C>T	ENST00000427314.2	-	6	578	c.355G>A	c.(355-357)Gag>Aag	p.E119K	RACGAP1_ENST00000454520.2_Missense_Mutation_p.E119K|RACGAP1_ENST00000551016.1_Missense_Mutation_p.E119K|RACGAP1_ENST00000547905.1_Missense_Mutation_p.E119K|RACGAP1_ENST00000312377.5_Missense_Mutation_p.E119K|RACGAP1_ENST00000434422.1_Missense_Mutation_p.E119K	NM_013277.3	NP_037409.2	Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	119	Interaction with SLC26A8.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TTTTGCTCCTCGCTTAGTTGA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	115	121			NA	NA	12		NA											NA				50399109		2203	4300	6503	SO:0001583	missense				CCDS8795.1	12q13	2004-05-17				ENSG00000161800	29127	29127			9804	protein-coding gene	gene with protein product		604980			NA	9497316	Standard	NM_013277	NM_013277	NA	Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.355G>A	12.37:g.50399109C>T	ENSP00000404190:p.Glu119Lys	NA	Q6PJ26|Q9NWN2|Q9P250|Q9P2W2	37	CCDS8795.1	.	.	.	.	.	.	.	.	.	.	C	31	5.084094	0.94100	.	.	ENSG00000161800	ENST00000427314;ENST00000312377;ENST00000434422;ENST00000454520;ENST00000551016;ENST00000547905;ENST00000552310;ENST00000550149;ENST00000546786;ENST00000546595;ENST00000551145;ENST00000548824;ENST00000548644;ENST00000546723;ENST00000552921;ENST00000552157;ENST00000548247;ENST00000546764;ENST00000551876;ENST00000549777	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-0.52;-0.52;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-0.52;-0.52;-0.52;-0.52	6.17	6.17	0.99709	.	0.203855	0.53938	D	0.000054	D	0.85071	0.5613	M	0.66939	2.045	0.80722	D	1	D	0.63046	0.992	P	0.49226	0.603	D	0.85688	0.1305	10	0.72032	D	0.01	-14.897	20.8794	0.99867	0.0:1.0:0.0:0.0	.	119	Q9H0H5	RGAP1_HUMAN	K	119;119;119;119;119;119;119;45;45;61;61;119;131;119;119;61;45;119;119;119	ENSP00000404190:E119K;ENSP00000309871:E119K;ENSP00000413241:E119K;ENSP00000404808:E119K;ENSP00000449374:E119K;ENSP00000449370:E119K;ENSP00000448697:E119K;ENSP00000446642:E45K;ENSP00000447429:E45K;ENSP00000449963:E61K;ENSP00000450064:E61K;ENSP00000449170:E119K;ENSP00000449620:E131K;ENSP00000449669:E119K;ENSP00000447393:E119K;ENSP00000448968:E61K;ENSP00000447177:E119K;ENSP00000449186:E119K;ENSP00000448707:E119K	ENSP00000309871:E119K	E	-	1	0	RACGAP1	48685376	1.000000	0.71417	0.976000	0.42696	0.975000	0.68041	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAG	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405997.1		-	ENST00000427314.2	Missense_Mutation	SNP	12 : 50399109 - 50399109 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	394	66
SRSF6	6431	broad.mit.edu	37	20	42088878	42088878	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42088878C>A	ENST00000244020.3	+	4	693	c.587C>A	c.(586-588)tCc>tAc	p.S196Y		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	196	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						GGAAGCAGATCCAGGTAACTT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	48	48			NA	NA	20		NA											NA				42088878		2200	4300	6500	SO:0001583	missense			U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193	6431	6431		Serine/arginine-rich splicing factors, RNA binding motif (RRM) containing	10788	protein-coding gene	gene with protein product	pre-mRNA splicing factor SRP55, SR splicing factor 6	601944	splicing factor, arginine/serine-rich 6	SFRS6	NA	7556075, 20516191	Standard	NM_006275	NM_006275	NA	Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.587C>A	20.37:g.42088878C>A	ENSP00000244020:p.Ser196Tyr	NA	B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	37	CCDS13318.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.970812	0.53614	.	.	ENSG00000124193	ENST00000244020	T	0.31769	1.48	5.98	5.98	0.97165	.	0.111229	0.64402	D	0.000005	T	0.60919	0.2306	M	0.80616	2.505	0.80722	D	1	D;D	0.65815	0.995;0.99	D;D	0.75484	0.986;0.962	T	0.62353	-0.6872	10	0.72032	D	0.01	.	19.2235	0.93808	0.0:1.0:0.0:0.0	.	196;196	Q13247;A8K588	SRSF6_HUMAN;.	Y	196	ENSP00000244020:S196Y	ENSP00000244020:S196Y	S	+	2	0	SRSF6	41522292	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.731000	0.84895	2.838000	0.97847	0.591000	0.81541	TCC	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079292.1		+	ENST00000244020.3	Missense_Mutation	SNP	20 : 42088878 - 42088878 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	8
RLTPR	146206	broad.mit.edu	37	16	67680837	67680837	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67680837G>A	ENST00000334583.6	+	8	900	c.572G>A	c.(571-573)cGc>cAc	p.R191H	RLTPR_ENST00000545661.1_Missense_Mutation_p.R191H	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	191										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CAGGGCTGCCGCCATTTCAGC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	26	26			NA	NA	16		NA											NA				67680837		1999	4176	6175	SO:0001583	missense			AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753	146206	146206			27089	protein-coding gene	gene with protein product	RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein, leucine rich repeat containing 16C	610859			NA	15588584, 19846667	Standard	NM_001013838	XM_005255807	NA	Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.572G>A	16.37:g.67680837G>A	ENSP00000334958:p.Arg191His	NA		37	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531042	0.85706	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.55413	0.52;0.52	4.53	4.53	0.55603	.	0.059925	0.64402	D	0.000003	T	0.69151	0.3079	M	0.63843	1.955	0.44432	D	0.99735	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	T	0.70346	-0.4897	10	0.51188	T	0.08	-21.1664	15.5787	0.76414	0.0:0.0:1.0:0.0	.	191;191	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	H	191	ENSP00000334958:R191H;ENSP00000441481:R191H	ENSP00000334958:R191H	R	+	2	0	RLTPR	66238338	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.794000	0.62482	2.516000	0.84829	0.563000	0.77884	CGC	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000467858.1		+	ENST00000334583.6	Missense_Mutation	SNP	16 : 67680837 - 67680837 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	192	33
CUX2	23316	broad.mit.edu	37	12	111785782	111785782	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111785782C>T	ENST00000261726.6	+	22	4268	c.4114C>T	c.(4114-4116)Cga>Tga	p.R1372*		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1372	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GGCCGGGGAGCGACTTCACCC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	68	65			NA	NA	12		NA											NA				111785782		1995	4167	6162	SO:0001587	stop_gained			AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249	23316	23316		Homeoboxes / CUT class	19347	protein-coding gene	gene with protein product		610648	cut-like 2 (Drosophila)	CUTL2	NA		Standard	NM_015267	NM_015267	NA	Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.4114C>T	12.37:g.111785782C>T	ENSP00000261726:p.Arg1372*	NA	A7E2Y4	37	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	C	39	7.352241	0.98231	.	.	ENSG00000111249	ENST00000261726	.	.	.	5.44	2.58	0.30949	.	0.320397	0.32769	N	0.005676	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-5.2563	8.7956	0.34876	0.2665:0.6619:0.0:0.0716	.	.	.	.	X	1372	.	ENSP00000261726:R1372X	R	+	1	2	CUX2	110270165	0.999000	0.42202	0.245000	0.24217	0.302000	0.27658	1.873000	0.39558	0.248000	0.21435	0.557000	0.71058	CGA	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404765.1		+	ENST00000261726.6	Nonsense_Mutation	SNP	12 : 111785782 - 111785782 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	794	33
BPTF	2186	broad.mit.edu	37	17	65907902	65907902	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65907902G>A	ENST00000306378.6	+	11	3962	c.3902G>A	c.(3901-3903)aGc>aAc	p.S1301N	BPTF_ENST00000335221.5_Missense_Mutation_p.S1427N|BPTF_ENST00000424123.3_Missense_Mutation_p.S1288N|BPTF_ENST00000321892.4_Missense_Mutation_p.S1427N	NM_182641.3	NP_872579.2	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1427					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATTCAGGATAGCAGTGAAGAA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	104	105			NA	NA	17		NA											NA				65907902		2203	4300	6503	SO:0001583	missense			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634	2186	2186		Zinc fingers, PHD-type	3581	protein-coding gene	gene with protein product		601819	fetal Alzheimer antigen	FALZ	NA	8975731, 10662542, 16728976	Standard	NM_182641, NM_004459	NM_182641	NA	Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000306378.6:c.3902G>A	17.37:g.65907902G>A	ENSP00000307208:p.Ser1301Asn	NA	Q6NX67|Q7Z7D6|Q9UIG2	37	CCDS11673.1	.	.	.	.	.	.	.	.	.	.	G	7.229	0.598910	0.13939	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.62232	0.05;0.04;0.04	5.34	3.33	0.38152	.	.	.	.	.	T	0.38453	0.1041	N	0.14661	0.345	0.39794	D	0.972479	B;B	0.17268	0.018;0.021	B;B	0.15484	0.011;0.013	T	0.21655	-1.0239	9	0.06757	T	0.87	-8.1721	10.6426	0.45602	0.1843:0.0:0.8157:0.0	.	1301;1427	Q12830-2;Q12830-4	.;.	N	1301;1427;1427	ENSP00000307208:S1301N;ENSP00000334351:S1427N;ENSP00000315454:S1427N	ENSP00000307208:S1301N	S	+	2	0	BPTF	63338364	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	2.674000	0.46867	2.478000	0.83669	0.650000	0.86243	AGC	BPTF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255334.2		+	ENST00000306378.6	Missense_Mutation	SNP	17 : 65907902 - 65907902 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	449	54
PPFIA4	8497	broad.mit.edu	37	1	203033018	203033018	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203033018G>A	ENST00000367240.2	+	24	3401	c.2874G>A	c.(2872-2874)ggG>ggA	p.G958G	PPFIA4_ENST00000295706.4_Silent_p.G464G|PPFIA4_ENST00000414050.2_Silent_p.G686G|PPFIA4_ENST00000599966.1_Silent_p.G464G|PPFIA4_ENST00000272198.6_Silent_p.G473G|PPFIA4_ENST00000447715.2_Silent_p.G957G			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	473					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CCAGCCTGGGGCTCCCGCAGT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	67	63			NA	NA	1		NA											NA				203033018		2203	4300	6503	SO:0001819	synonymous_variant			AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847	8497	8497		Sterile alpha motif (SAM) domain containing	9248	protein-coding gene	gene with protein product	Liprin-alpha4	603145			NA	9624153	Standard	NM_015053	XM_005245553	NA	Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000367240.2:c.2874G>A	1.37:g.203033018G>A		NA	A2RUJ5|B1APN8|O94971	37																																																																																				PPFIA4-001	NOVEL	not_organism_supported|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000100269.2		+	ENST00000367240.2	Silent	SNP	1 : 203033018 - 203033018 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	466	68
AGFG1	3267	broad.mit.edu	37	2	228401620	228401620	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228401620C>T	ENST00000409315.1	+	10	1279	c.1226C>T	c.(1225-1227)aCg>aTg	p.T409M	AGFG1_ENST00000310078.8_Missense_Mutation_p.T430M|AGFG1_ENST00000409171.1_Missense_Mutation_p.T430M|AGFG1_ENST00000409979.2_Missense_Mutation_p.T454M|AGFG1_ENST00000373671.3_Missense_Mutation_p.T390M			P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	430					cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						TTTAAAGCTACGCCTTCCACA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	64	63			NA	NA	2		NA											NA				228401620		2203	4300	6503	SO:0001583	missense				CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744	3267	3267		ADP-ribosylation factor GTPase activating proteins	5175	protein-coding gene	gene with protein product		600862	HIV-1 Rev binding protein	HRB	NA	7637788	Standard	NM_004504	NM_004504	NA	Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000409315.1:c.1226C>T	2.37:g.228401620C>T	ENSP00000387154:p.Thr409Met	NA	Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	37		.	.	.	.	.	.	.	.	.	.	C	14.64	2.595158	0.46318	.	.	ENSG00000173744	ENST00000409979;ENST00000542592;ENST00000310078;ENST00000409315;ENST00000373671;ENST00000409171	T;T;T;T;T	0.24908	1.88;1.9;1.84;1.83;1.9	5.97	5.97	0.96955	.	0.264991	0.43416	D	0.000579	T	0.24084	0.0583	N	0.22421	0.69	0.38870	D	0.956668	P;P;D;D	0.54772	0.945;0.954;0.968;0.968	B;P;B;B	0.45449	0.36;0.481;0.197;0.132	T	0.01352	-1.1377	10	0.33940	T	0.23	-0.4976	18.6134	0.91294	0.0:1.0:0.0:0.0	.	390;430;454;430	P52594-2;P52594-3;E9PHX7;P52594	.;.;.;AGFG1_HUMAN	M	454;439;430;409;390;430	ENSP00000387282:T454M;ENSP00000312059:T430M;ENSP00000387154:T409M;ENSP00000362775:T390M;ENSP00000387218:T430M	ENSP00000312059:T430M	T	+	2	0	AGFG1	228109864	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.826000	0.62715	2.838000	0.97847	0.591000	0.81541	ACG	AGFG1-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000331538.1		+	ENST00000409315.1	Missense_Mutation	SNP	2 : 228401620 - 228401620 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	426	66
OR4A15	81328	broad.mit.edu	37	11	55135947	55135947	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55135947C>A	ENST00000314706.3	+	1	588	c.588C>A	c.(586-588)ttC>ttA	p.F196L		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						AGCTCCCTTTCTGTGGACCCA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	124	128			NA	NA	11		NA											NA				55135947		2201	4293	6494	SO:0001583	missense			AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958	81328	81328		GPCR / Class A : Olfactory receptors	15152	protein-coding gene	gene with protein product					NA		Standard	NM_001005275	NM_001005275	NA	Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.588C>A	11.37:g.55135947C>A	ENSP00000325065:p.Phe196Leu	NA	Q6IFL4|Q96R65	37	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	-	14.70	2.612928	0.46631	.	.	ENSG00000181958	ENST00000314706	T	0.00039	8.85	3.48	2.53	0.30540	GPCR, rhodopsin-like superfamily (1);	0.122467	0.37219	N	0.002196	T	0.00328	0.0010	M	0.71206	2.165	0.26873	N	0.967715	D	0.60575	0.988	D	0.64595	0.927	T	0.41142	-0.9525	10	0.87932	D	0	.	5.9037	0.18980	0.0:0.7489:0.0:0.2511	.	196	Q8NGL6	O4A15_HUMAN	L	196	ENSP00000325065:F196L	ENSP00000325065:F196L	F	+	3	2	OR4A15	54892523	0.685000	0.27652	0.947000	0.38551	0.708000	0.40852	-0.010000	0.12743	0.635000	0.30488	0.492000	0.49549	TTC	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391161.1		+	ENST00000314706.3	Missense_Mutation	SNP	11 : 55135947 - 55135947 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	883	146
RSL1D1	26156	broad.mit.edu	37	16	11941533	11941533	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11941533C>T	ENST00000571133.1	-	3	448	c.376G>A	c.(376-378)Gtt>Att	p.V126I	RSL1D1_ENST00000542106.1_5'UTR	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	126					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						ACCTGAGAAACGGTTTTAATT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	89	89			NA	NA	16		NA											NA				11941533		2197	4299	6496	SO:0001583	missense			AY154473	CCDS10551.1	16p13.13	2011-08-12			ENSG00000171490	ENSG00000171490	26156	26156			24534	protein-coding gene	gene with protein product		615874			NA	15334068, 9859858	Standard	NM_015659	NM_015659	NA	Approved	PBK1, L12, DKFZP564M182, CSIG, UTP30	uc002dbp.1	O76021	OTTHUMG00000129824	ENST00000571133.1:c.376G>A	16.37:g.11941533C>T	ENSP00000460871:p.Val126Ile	NA	D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	37	CCDS10551.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.226134	0.00283	.	.	ENSG00000171490	ENST00000355674;ENST00000396503	T	0.37915	1.17	5.0	1.47	0.22746	Ribosomal protein L1, superfamily (1);	0.298473	0.36374	N	0.002639	T	0.09247	0.0228	N	0.01076	-1.035	0.80722	D	1	B;B	0.13594	0.008;0.005	B;B	0.14578	0.011;0.011	T	0.35822	-0.9773	10	0.02654	T	1	-7.1063	7.6356	0.28264	0.0:0.359:0.0:0.641	.	126;126	Q32Q62;O76021	.;RL1D1_HUMAN	I	126	ENSP00000347897:V126I	ENSP00000347897:V126I	V	-	1	0	RSL1D1	11849034	0.010000	0.17322	0.157000	0.22605	0.144000	0.21451	-0.013000	0.12678	0.046000	0.15833	-1.327000	0.01280	GTT	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252059.2		-	ENST00000571133.1	Missense_Mutation	SNP	16 : 11941533 - 11941533 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	394	63
SNX13	23161	broad.mit.edu	37	7	17841237	17841237	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:17841237G>A	ENST00000409389.1	-	22	2477	c.2305C>T	c.(2305-2307)Cga>Tga	p.R769*	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Nonsense_Mutation_p.R758*			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	769					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					GCCGAAACTCGGCGATGTTCA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	65	67			NA	NA	7		NA											NA				17841237		1844	4085	5929	SO:0001587	stop_gained			AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189	23161	23161		Sorting nexins	21335	protein-coding gene	gene with protein product		606589			NA	11485546, 11729322	Standard	NM_015132	NM_015132	NA	Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.2305C>T	7.37:g.17841237G>A	ENSP00000386705:p.Arg769*	NA	B2RCI9|O94821|Q8WVZ2|Q8WXH8	37		.	.	.	.	.	.	.	.	.	.	G	41	8.625400	0.98890	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	.	.	.	6.06	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-8.7544	15.5809	0.76439	0.066:0.0:0.934:0.0	.	.	.	.	X	769;758;806	.	ENSP00000242044:R806X	R	-	1	2	SNX13	17807762	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	6.808000	0.75206	1.574000	0.49760	0.650000	0.86243	CGA	SNX13-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000327608.1		-	ENST00000409389.1	Nonsense_Mutation	SNP	7 : 17841237 - 17841237 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	94	17
DSP	1832	broad.mit.edu	37	6	7584800	7584800	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7584800G>T	ENST00000379802.3	+	24	7646	c.7305G>T	c.(7303-7305)aaG>aaT	p.K2435N	DSP_ENST00000418664.2_Missense_Mutation_p.K1836N	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2435	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GATGCATTAAGGATGAGGAAA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	102	100			NA	NA	6		NA											NA				7584800		2203	4300	6503	SO:0001583	missense			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696	1832	1832			3052	protein-coding gene	gene with protein product		125647	desmoplakin (DPI, DPII)		NA	1889810	Standard	NM_004415	NM_004415	NA	Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.7305G>T	6.37:g.7584800G>T	ENSP00000369129:p.Lys2435Asn	NA	B2RTT2|O75993|Q14189|Q9UHN4	37	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	9.993	1.231396	0.22626	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.68331	-0.32;-0.32	5.7	2.95	0.34219	.	0.000000	0.64402	D	0.000003	T	0.38957	0.1060	L	0.43152	1.355	0.23492	N	0.997568	D;P	0.60160	0.987;0.922	P;B	0.45712	0.491;0.33	T	0.33727	-0.9857	10	0.19590	T	0.45	.	9.8562	0.41088	0.3409:0.0:0.6591:0.0	.	1883;2435	Q4LE79;P15924	.;DESP_HUMAN	N	2435;1836	ENSP00000369129:K2435N;ENSP00000396591:K1836N	ENSP00000369129:K2435N	K	+	3	2	DSP	7529799	0.971000	0.33674	0.999000	0.59377	0.992000	0.81027	0.281000	0.18810	0.337000	0.23665	0.655000	0.94253	AAG	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039786.2		+	ENST00000379802.3	Missense_Mutation	SNP	6 : 7584800 - 7584800 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	595	114
NKD2	85409	broad.mit.edu	37	5	1034966	1034966	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1034966C>T	ENST00000274150.4	+	7	618	c.522C>T	c.(520-522)acC>acT	p.T174T	NKD2_ENST00000296849.5_Silent_p.T174T|NKD2_ENST00000537972.1_Silent_p.T174T	NM_001271082.1	NP_001258011.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	174	Interaction with DVL1, DVL2 and DVL3 (By similarity).				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	p.T174T(1)		breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			TGAAGCTAACCGTCAGCCCTG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	breast(1)											65	50	55			NA	NA	5		NA											NA				1034966		2200	4294	6494	SO:0001819	synonymous_variant			AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506	85409	85409		EF-hand domain containing	17046	protein-coding gene	gene with protein product	naked cuticle-2, Dvl-binding protein NKD2	607852			NA	11356022, 11604995	Standard	NM_033120	NM_033120	NA	Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000274150.4:c.522C>T	5.37:g.1034966C>T		NA	Q96EK8|Q9BSN0	37	CCDS59486.1																																																																																			NKD2-002	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365550.1		+	ENST00000274150.4	Silent	SNP	5 : 1034966 - 1034966 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	158	24
LLGL1	3996	broad.mit.edu	37	17	18133300	18133300	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18133300G>A	ENST00000316843.4	+	2	223	c.127G>A	c.(127-129)Gac>Aac	p.D43N		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	43					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CCTGGCCTTCGACCCGGAACT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	93	98			NA	NA	17		NA											NA				18133300		2203	4300	6503	SO:0001583	missense				CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899	3996	3996		WD repeat domain containing	6628	protein-coding gene	gene with protein product		600966	lethal giant larvae (Drosophila) homolog 1	DLG4, LLGL, HUGL, HUGL-1	NA	7542763, 8565641	Standard		XM_005256643	NA	Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.127G>A	17.37:g.18133300G>A	ENSP00000321537:p.Asp43Asn	NA	A7MBM7|O00188|Q58F11|Q86UK6	37	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	G	35	5.450212	0.96205	.	.	ENSG00000131899	ENST00000316843	T	0.64618	-0.11	5.16	5.16	0.70880	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81312	0.4796	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84122	0.0407	10	0.87932	D	0	-37.7297	17.8256	0.88664	0.0:0.0:1.0:0.0	.	43	Q15334	L2GL1_HUMAN	N	43	ENSP00000321537:D43N	ENSP00000321537:D43N	D	+	1	0	LLGL1	18074025	1.000000	0.71417	0.996000	0.52242	0.927000	0.56198	4.514000	0.60482	2.584000	0.87258	0.558000	0.71614	GAC	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132067.3		+	ENST00000316843.4	Missense_Mutation	SNP	17 : 18133300 - 18133300 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	680	142
CRHBP	1393	broad.mit.edu	37	5	76251590	76251590	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76251590G>A	ENST00000274368.4	+	4	868	c.446G>A	c.(445-447)aGc>aAc	p.S149N	CRHBP_ENST00000506501.1_Missense_Mutation_p.S149N	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	149					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		AGCAGGAGGAGCATCAGATCT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	107	112			NA	NA	5		NA											NA				76251590		2203	4300	6503	SO:0001583	missense			X58022	CCDS4034.1	5q	2008-07-18	2001-11-28		ENSG00000145708	ENSG00000145708	1393	1393			2356	protein-coding gene	gene with protein product		122559	corticotropin releasing hormone-binding protein		NA	8198617	Standard	NM_001882	NM_001882	NA	Approved	CRF-BP, CRFBP	uc003ker.3	P24387	OTTHUMG00000102133	ENST00000274368.4:c.446G>A	5.37:g.76251590G>A	ENSP00000274368:p.Ser149Asn	NA	Q53F32|Q6FHT5	37	CCDS4034.1	.	.	.	.	.	.	.	.	.	.	G	6.746	0.506401	0.12883	.	.	ENSG00000145708	ENST00000274368;ENST00000506501	T;T	0.60299	0.2;0.2	3.76	1.87	0.25490	CUB (1);	0.191352	0.53938	D	0.000051	T	0.56978	0.2022	L	0.59436	1.845	0.29183	N	0.876387	P;B	0.40578	0.722;0.351	P;B	0.46172	0.506;0.09	T	0.55042	-0.8202	10	0.45353	T	0.12	-24.923	9.8428	0.41008	0.0:0.4215:0.4347:0.1438	.	149;149	D6RHH7;P24387	.;CRHBP_HUMAN	N	149	ENSP00000274368:S149N;ENSP00000426097:S149N	ENSP00000274368:S149N	S	+	2	0	CRHBP	76287346	0.302000	0.24454	0.965000	0.40720	0.627000	0.37826	0.364000	0.20325	0.516000	0.28340	0.655000	0.94253	AGC	CRHBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219972.2		+	ENST00000274368.4	Missense_Mutation	SNP	5 : 76251590 - 76251590 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	375	17
PAK2	5062	broad.mit.edu	37	3	196541366	196541366	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196541366C>A	ENST00000327134.3	+	11	1302	c.980C>A	c.(979-981)gCt>gAt	p.A327D		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	327	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		GAATACCTTGCTGGGGGGTCA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	159	160			NA	NA	3		NA											NA				196541366		2203	4300	6503	SO:0001583	missense			U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	5062	5062	2.7.11.1		8591	protein-coding gene	gene with protein product	S6/H4 kinase	605022	p21 (CDKN1A)-activated kinase 2		NA	7744004, 7618083	Standard	NM_002577	NM_002577	NA	Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.980C>A	3.37:g.196541366C>A	ENSP00000314067:p.Ala327Asp	NA	Q13154|Q6ISC3	37	CCDS3321.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.14|16.14	3.038673|3.038673	0.55003|0.55003	.|.	.|.	ENSG00000180370|ENSG00000180370	ENST00000327134|ENST00000426668	T|.	0.12672|.	2.66|.	5.85|5.85	4.97|4.97	0.65823|0.65823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.046739|.	0.85682|.	N|.	0.000000|.	T|T	0.45518|0.45518	0.1346|0.1346	N|N	0.11313|0.11313	0.125|0.125	0.80722|0.80722	D|D	1|1	P|.	0.37500|.	0.597|.	B|.	0.35899|.	0.213|.	T|T	0.39761|0.39761	-0.9598|-0.9598	10|5	0.33141|.	T|.	0.24|.	.|.	16.3062|16.3062	0.82849|0.82849	0.1334:0.8666:0.0:0.0|0.1334:0.8666:0.0:0.0	.|.	327|.	Q13177|.	PAK2_HUMAN|.	D|M	327|70	ENSP00000314067:A327D|.	ENSP00000314067:A327D|.	A|L	+|+	2|1	0|2	PAK2|PAK2	198025763|198025763	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.928000|0.928000	0.56348|0.56348	7.463000|7.463000	0.80869|0.80869	1.457000|1.457000	0.47850|0.47850	0.655000|0.655000	0.94253|0.94253	GCT|CTG	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340548.1		+	ENST00000327134.3	Missense_Mutation	SNP	3 : 196541366 - 196541366 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	881	165
SUV420H1	51111	broad.mit.edu	37	11	67925463	67925463	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67925463C>A	ENST00000304363.4	-	11	2703	c.2350G>T	c.(2350-2352)Gat>Tat	p.D784Y		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	784					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TTTTCCTCATCTCGTTTTAGC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													188	206	200			NA	NA	11		NA											NA				67925463		2200	4294	6494	SO:0001583	missense			AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066	51111	51111		Chromatin-modifying enzymes / K-methyltransferases	24283	protein-coding gene	gene with protein product		610881			NA	10810093, 11401438	Standard	NM_017635	NM_016028	NA	Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.2350G>T	11.37:g.67925463C>A	ENSP00000305899:p.Asp784Tyr	NA	B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	37	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742774	0.69418	.	.	ENSG00000110066	ENST00000304363	T	0.51574	0.7	5.39	5.39	0.77823	.	0.098404	0.64402	D	0.000001	T	0.52805	0.1757	N	0.24115	0.695	0.80722	D	1	D	0.60575	0.988	P	0.57371	0.819	T	0.58188	-0.7680	10	0.87932	D	0	-27.8809	19.1401	0.93444	0.0:1.0:0.0:0.0	.	784	Q4FZB7	SV421_HUMAN	Y	784	ENSP00000305899:D784Y	ENSP00000305899:D784Y	D	-	1	0	SUV420H1	67682039	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.375000	0.79646	2.536000	0.85505	0.491000	0.48974	GAT	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318319.1		-	ENST00000304363.4	Missense_Mutation	SNP	11 : 67925463 - 67925463 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1156	47
NUP88	4927	broad.mit.edu	37	17	5323023	5323023	+	Translation_Start_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5323023G>T	ENST00000573584.1	-	0	457				RPAIN_ENST00000536255.2_5'UTR|RPAIN_ENST00000381208.5_5'UTR|RPAIN_ENST00000381209.3_5'UTR	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	NA					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						GCTGAGCACAGCCAATCCGCG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA					Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559	4927	4927			8067	protein-coding gene	gene with protein product		602552	nucleoporin 88kD		NA	9049309	Standard	NM_002532	NM_002532	NA	Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.-53C>A	17.37:g.5323023G>T		NA	D3DTM2|Q9BWE5	37	CCDS11070.1																																																																																			NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216918.3		-	ENST00000573584.1	De_novo_Start_OutOfFrame	SNP	17 : 5323023 - 5323023 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	179	43
TRAPPC5	126003	broad.mit.edu	37	19	7747600	7747600	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7747600G>A	ENST00000317378.5	+	2	648	c.461G>A	c.(460-462)aGc>aAc	p.S154N	TRAPPC5_ENST00000596148.1_Missense_Mutation_p.S154N|CTD-3214H19.16_ENST00000597959.1_3'UTR|TRAPPC5_ENST00000426877.2_Missense_Mutation_p.S154N|TRAPPC5_ENST00000595985.1_Missense_Mutation_p.S87N	NM_174894.2	NP_777554.1	Q8IUR0	TPPC5_HUMAN	trafficking protein particle complex 5	154					vesicle-mediated transport	endoplasmic reticulum	guanylate cyclase activity|heme binding			NS(1)|lung(2)	3						CTCACACACAGCGGCTTCCCT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	30	29			NA	NA	19		NA											NA				7747600		2182	4264	6446	SO:0001583	missense			BC042161	CCDS42490.1	19p13.3	2011-10-10				ENSG00000181029	126003	126003		Trafficking protein particle complex	23067	protein-coding gene	gene with protein product					NA		Standard	XM_058961	NM_001042462	NA	Approved	MGC52424, TRS31	uc002mhj.2	Q8IUR0		ENST00000317378.5:c.461G>A	19.37:g.7747600G>A	ENSP00000316990:p.Ser154Asn	NA	A8K7I6	37	CCDS42490.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041884	0.75732	.	.	ENSG00000181029	ENST00000317378;ENST00000426877	T;T	0.43688	0.94;0.94	3.93	3.93	0.45458	NO signalling/Golgi transport  ligand-binding domain (1);	0.000000	0.85682	U	0.000000	T	0.57140	0.2033	M	0.85299	2.745	0.47511	D	0.99944	P	0.48640	0.913	P	0.49953	0.627	T	0.67405	-0.5679	10	0.72032	D	0.01	-10.8396	13.4726	0.61290	0.0:0.0:1.0:0.0	.	154	Q8IUR0	TPPC5_HUMAN	N	154	ENSP00000316990:S154N;ENSP00000399025:S154N	ENSP00000316990:S154N	S	+	2	0	TRAPPC5	7653600	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.357000	0.79456	1.767000	0.52121	0.306000	0.20318	AGC	TRAPPC5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461252.1		+	ENST00000317378.5	Missense_Mutation	SNP	19 : 7747600 - 7747600 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	152	20
CHRNA10	57053	broad.mit.edu	37	11	3688612	3688612	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3688612G>A	ENST00000534359.1	-	4	794	c.198C>T	c.(196-198)tgC>tgT	p.C66C	CHRNA10_ENST00000250699.2_Missense_Mutation_p.L249F			Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	388					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	AGCGAGATGAGCACGCAGGGC	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(153;17 1869 2949 7120 36888)							NA				0													23	25	25			NA	NA	11		NA											NA				3688612		2192	4289	6481	SO:0001819	synonymous_variant			AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749	57053	57053		Cholinergic receptors, Ligand-gated ion channels / Acetylcholine receptors, nicotinic	13800	protein-coding gene	gene with protein product	acetylcholine receptor, nicotinic, alpha 10 (neuronal)	606372	cholinergic receptor, nicotinic, alpha polypeptide 10		NA		Standard		NM_020402	NA	Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000534359.1:c.198C>T	11.37:g.3688612G>A		NA		37		.	.	.	.	.	.	.	.	.	.	G	13.12	2.141562	0.37825	.	.	ENSG00000129749	ENST00000250699	D	0.91464	-2.85	5.33	4.41	0.53225	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.377447	0.20813	N	0.085212	D	0.90198	0.6936	M	0.69185	2.1	0.80722	D	1	B	0.34399	0.452	P	0.44477	0.451	D	0.87106	0.2182	10	0.39692	T	0.17	.	6.2434	0.20803	0.0913:0.0:0.6228:0.2859	.	249	Q9GZZ6	ACH10_HUMAN	F	249	ENSP00000250699:L249F	ENSP00000250699:L249F	L	-	1	0	CHRNA10	3645188	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.376000	0.34306	1.214000	0.43395	0.561000	0.74099	CTC	CHRNA10-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000392912.1		-	ENST00000534359.1	Silent	SNP	11 : 3688612 - 3688612 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	174	33
PPP6C	5537	broad.mit.edu	37	9	127912091	127912091	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127912091T>G	ENST00000373547.4	-	7	878	c.779A>C	c.(778-780)aAt>aCt	p.N260T	PPP6C_ENST00000451402.1_Missense_Mutation_p.N297T|PPP6C_ENST00000415905.1_Missense_Mutation_p.N238T|PPP6C_ENST00000373546.3_Missense_Mutation_p.N113T	NM_002721.4	NP_002712.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	260					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						ATAGCAGTAATTAGGAGCAGA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	119	125			NA	NA	9		NA											NA				127912091		2203	4300	6503	SO:0001583	missense			AF035158	CCDS6861.1, CCDS48018.1, CCDS48019.1	9q33.3	2010-03-17			ENSG00000119414	ENSG00000119414	5537	5537		Serine/threonine phosphatases / Protein phosphatase, catalytic subunits	9323	protein-coding gene	gene with protein product		612725			NA	9143513	Standard	NM_016294	NM_002721	NA	Approved	PP6	uc004bpg.4	O00743	OTTHUMG00000020671	ENST00000373547.4:c.779A>C	9.37:g.127912091T>G	ENSP00000362648:p.Asn260Thr	NA	B2R5V6|B7Z2W9|B7Z5K9|Q5U0A2|Q9UIC9	37	CCDS6861.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.175190	0.57692	.	.	ENSG00000119414	ENST00000373547;ENST00000451402;ENST00000415905;ENST00000373546	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.52	5.52	0.82312	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);	0.000000	0.85682	D	0.000000	D	0.83585	0.5286	H	0.98901	4.365	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	D	0.90237	0.4283	10	0.87932	D	0	-14.2754	14.812	0.70003	0.0:0.0:0.0:1.0	.	238;297;260	O00743-2;O00743-3;O00743	.;.;PPP6_HUMAN	T	260;297;238;113	ENSP00000362648:N260T;ENSP00000392147:N297T;ENSP00000411744:N238T;ENSP00000362647:N113T	ENSP00000362647:N113T	N	-	2	0	PPP6C	126951912	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.650000	0.83521	2.093000	0.63338	0.455000	0.32223	AAT	PPP6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054060.1		-	ENST00000373547.4	Missense_Mutation	SNP	9 : 127912091 - 127912091 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	260	41
KIF26A	26153	broad.mit.edu	37	14	104639499	104639499	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:104639499G>A	ENST00000315264.7	+	7	1567	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	KIF26A_ENST00000423312.2_Missense_Mutation_p.E536K			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	536	Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCTGCTGGCCGAGGTGGCCCC	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	LYS/GLU	1,4051		0,1,2025	12	18	16		1606	3.3	0.9	14		16	1,8273		0,1,4136	yes	missense	KIF26A	NM_015656.1	56	0,2,6161	AA,AG,GG	NA	0.0121,0.0247,0.0162	possibly-damaging	536/1883	104639499	2,12324	2026	4137	6163	SO:0001583	missense			AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735	26153	26153		Kinesins	20226	protein-coding gene	gene with protein product		613231			NA	10574462, 11416179	Standard		NM_015656	NA	Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000315264.7:c.1189G>A	14.37:g.104639499G>A	ENSP00000325452:p.Glu397Lys	NA	Q8TAZ7|Q96GK3|Q9UFL3	37		.	.	.	.	.	.	.	.	.	.	G	23.7	4.442707	0.83993	2.47E-4	1.21E-4	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.43294	0.95;0.95	5.18	3.31	0.37934	Kinesin, motor domain (4);	.	.	.	.	T	0.31544	0.0800	N	0.20845	0.615	0.49582	D	0.999808	D	0.57571	0.98	P	0.47044	0.535	T	0.02639	-1.1130	9	0.39692	T	0.17	.	9.8426	0.41008	0.0733:0.0:0.7873:0.1395	.	536	Q9ULI4	KI26A_HUMAN	K	536;397	ENSP00000388241:E536K;ENSP00000325452:E397K	ENSP00000325452:E397K	E	+	1	0	KIF26A	103709252	1.000000	0.71417	0.884000	0.34674	0.801000	0.45260	9.524000	0.98036	0.536000	0.28733	0.462000	0.41574	GAG	KIF26A-001	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000337893.2		+	ENST00000315264.7	Missense_Mutation	SNP	14 : 104639499 - 104639499 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	129	18
PRR14	78994	broad.mit.edu	37	16	30666368	30666368	+	Silent	SNP	G	G	A	rs150232321	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30666368G>A	ENST00000542965.2	+	7	1533	c.1077G>A	c.(1075-1077)ccG>ccA	p.P359P	PRR14_ENST00000300835.4_Silent_p.P359P|PRR14_ENST00000571654.1_Intron			Q9BWN1	PRR14_HUMAN	proline rich 14	359	Pro-rich.		P -> L (in dbSNP:rs3747481).							breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			GACCACGGCCGCGGCGGCACA	0.701		NA											G	6	0.0027	0.01	NA	2184	NA	0.9991	,	,	NA	8e-04	NA	NA	NA	0.0032	0.8706	LOWCOV	NA	NA	9e-04	SNP								NA				0								G		16,4372		0,16,2178	24	30	28		1077	-10.4	0.8	16	dbSNP_134	28	0,8592		0,0,4296	no	coding-synonymous	PRR14	NM_024031.2		0,16,6474	AA,AG,GG	NA	0.0,0.3646,0.1233		359/586	30666368	16,12964	2194	4296	6490	SO:0001819	synonymous_variant			AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858	78994	78994			28458	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024031	NM_024031	NA	Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.1077G>A	16.37:g.30666368G>A		NA	Q8WTX2	37	CCDS10687.1																																																																																			PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434433.1		+	ENST00000542965.2	Silent	SNP	16 : 30666368 - 30666368 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	377	66
CIB2	10518	broad.mit.edu	37	15	78403609	78403609	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78403609C>T	ENST00000258930.3	-	3	424	c.96G>A	c.(94-96)tcG>tcA	p.S32S	CIB2_ENST00000557846.1_Intron|CIB2_ENST00000539011.1_5'UTR|CIB2_ENST00000560618.1_5'UTR	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	32							calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						CATAGAATCGCGAATGCAGCC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	79	80			NA	NA	15		NA											NA				78403609		2196	4293	6489	SO:0001819	synonymous_variant			BC047381	CCDS10296.1, CCDS61722.1, CCDS61723.1	15q24	2013-01-10			ENSG00000136425	ENSG00000136425	10518	10518		EF-hand domain containing	24579	protein-coding gene	gene with protein product		605564	deafness, autosomal recessive 48, Usher syndrome 1J (autosomal recessive)	DFNB48, USH1J	NA	9931475, 23023331	Standard	NM_006383	NM_006383	NA	Approved	KIP2	uc002bdb.2	O75838	OTTHUMG00000143731	ENST00000258930.3:c.96G>A	15.37:g.78403609C>T		NA		37	CCDS10296.1																																																																																			CIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000289798.1		-	ENST00000258930.3	Silent	SNP	15 : 78403609 - 78403609 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	353	58
GPANK1	7918	broad.mit.edu	37	6	31630466	31630466	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31630466C>T	ENST00000375906.1	-	4	1332	c.648G>A	c.(646-648)caG>caA	p.Q216Q	GPANK1_ENST00000375896.4_Silent_p.Q216Q|GPANK1_ENST00000375893.2_Silent_p.Q216Q|GPANK1_ENST00000375895.2_Silent_p.Q216Q|GPANK1_ENST00000375900.4_Silent_p.Q216Q	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	216						intracellular	nucleic acid binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						TCTCGCAGTACTGGAGGGAGG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	60	57			NA	NA	6		NA											NA				31630466		1510	2698	4208	SO:0001819	synonymous_variant				CCDS4711.1	6p21.3	2013-01-28	2010-11-24	2010-11-24	ENSG00000204438	ENSG00000204438	7918	7918		Ankyrin repeat domain containing, G patch domain containing	13920	protein-coding gene	gene with protein product	G patch domain containing 10, ankyrin repeat domain 59	142610	HLA-B associated transcript 4	BAT4	NA	2911734, 2813433	Standard	NM_033177	NM_001199237	NA	Approved	G5, D6S54E, GPATCH10, ANKRD59	uc021yuu.1	O95872	OTTHUMG00000031174	ENST00000375906.1:c.648G>A	6.37:g.31630466C>T		NA	A6NG25|B0UXA2|Q5SQ49	37	CCDS4711.1																																																																																			GPANK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000144445.2		-	ENST00000375906.1	Silent	SNP	6 : 31630466 - 31630466 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	67
DENND3	22898	broad.mit.edu	37	8	142178477	142178477	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142178477G>A	ENST00000519811.1	+	13	2198	c.2128G>A	c.(2128-2130)Gag>Aag	p.E710K	DENND3_ENST00000424248.1_Missense_Mutation_p.E578K|DENND3_ENST00000262585.2_Missense_Mutation_p.E630K			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	630										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CAAGCCGCACGAGGCCTCGAA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	68	68			NA	NA	8		NA											NA				142178477		2203	4300	6503	SO:0001583	missense			AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339	22898	22898		DENN/MADD domain containing, WD repeat domain containing	29134	protein-coding gene	gene with protein product					NA	10048485	Standard	NM_014957	NM_014957	NA	Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000519811.1:c.2128G>A	8.37:g.142178477G>A	ENSP00000428714:p.Glu710Lys	NA	B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.34|15.34	2.804188|2.804188	0.50315|0.50315	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000262585;ENST00000424248;ENST00000519811|ENST00000518668	T;T;T|.	0.15372|.	2.87;2.43;2.86|.	5.56|5.56	4.67|4.67	0.58626|0.58626	.|.	0.198521|.	0.52532|.	D|.	0.000074|.	T|T	0.71492|0.71492	0.3346|0.3346	M|M	0.62723|0.62723	1.935|1.935	0.50467|0.50467	D|D	0.999878|0.999878	D;D;D|.	0.58620|.	0.971;0.983;0.971|.	B;P;B|.	0.50082|.	0.426;0.63;0.426|.	T|T	0.70809|0.70809	-0.4771|-0.4771	10|5	0.48119|.	T|.	0.1|.	-14.1069|-14.1069	16.2841|16.2841	0.82710|0.82710	0.0:0.1327:0.8673:0.0|0.0:0.1327:0.8673:0.0	.|.	710;578;630|.	E9PF32;A2RUS2-2;A2RUS2|.	.;.;DEND3_HUMAN|.	K|Q	630;578;710|634	ENSP00000262585:E630K;ENSP00000410594:E578K;ENSP00000428714:E710K|.	ENSP00000262585:E630K|.	E|R	+|+	1|2	0|0	DENND3|DENND3	142247659|142247659	1.000000|1.000000	0.71417|0.71417	0.099000|0.099000	0.21106|0.21106	0.030000|0.030000	0.12068|0.12068	6.746000|6.746000	0.74866|0.74866	1.312000|1.312000	0.45043|0.45043	0.462000|0.462000	0.41574|0.41574	GAG|CGA	DENND3-001	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000380189.3		+	ENST00000519811.1	Missense_Mutation	SNP	8 : 142178477 - 142178477 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	532	106
GPR133	283383	broad.mit.edu	37	12	131561384	131561384	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:131561384C>T	ENST00000376682.4	+	6	825	c.570C>T	c.(568-570)aaC>aaT	p.N190N	GPR133_ENST00000261654.5_Silent_p.N504N|GPR133_ENST00000543617.1_Silent_p.N23N|GPR133_ENST00000535015.1_Silent_p.N536N			Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	504					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ACAGCAGCAACCGAGTCTTCG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													207	161	176			NA	NA	12		NA											NA				131561384		2203	4300	6503	SO:0001819	synonymous_variant			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452	283383	283383		-, GPCR / Class B : Orphans	19893	protein-coding gene	gene with protein product		613639			NA		Standard	NM_198827	NM_198827	NA	Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000376682.4:c.570C>T	12.37:g.131561384C>T		NA	Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	37		.	.	.	.	.	.	.	.	.	.	C	1.159	-0.644332	0.03531	.	.	ENSG00000111452	ENST00000335486	.	.	.	3.78	3.78	0.43462	.	.	.	.	.	T	0.68210	0.2976	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67921	-0.5545	4	.	.	.	.	13.4585	0.61212	0.0:1.0:0.0:0.0	.	.	.	.	I	26	.	.	T	+	2	0	GPR133	130127337	0.921000	0.31238	0.598000	0.28837	0.110000	0.19582	1.420000	0.34804	1.848000	0.53677	0.491000	0.48974	ACC	GPR133-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000399364.1		+	ENST00000376682.4	Silent	SNP	12 : 131561384 - 131561384 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	595	91
PLTP	5360	broad.mit.edu	37	20	44528125	44528125	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44528125C>T	ENST00000477313.1	-	14	1929	c.1335G>A	c.(1333-1335)gtG>gtA	p.V445V	PLTP_ENST00000372420.1_Silent_p.V357V|PLTP_ENST00000372431.3_Silent_p.V445V|PLTP_ENST00000354050.4_Silent_p.V393V|PLTP_ENST00000420868.2_Silent_p.V350V|PLTP_ENST00000542937.1_Silent_p.V465V			P55058	PLTP_HUMAN	phospholipid transfer protein	445					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				CCACCTCATGCACAAAGTTGA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	89	98			NA	NA	20		NA											NA				44528125		2203	4300	6503	SO:0001819	synonymous_variant			L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979	5360	5360		BPI fold containing	9093	protein-coding gene	gene with protein product	BPI fold containing family E	172425			NA		Standard	NM_006227	NM_006227	NA	Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.1335G>A	20.37:g.44528125C>T		NA	A8K006|E1P5N8|Q8WTT1|Q9BR07|Q9BSH8	37	CCDS13386.1																																																																																			PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354633.1		-	ENST00000477313.1	Silent	SNP	20 : 44528125 - 44528125 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	474	80
ING2	3622	broad.mit.edu	37	4	184431723	184431723	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184431723G>T	ENST00000302327.3	+	2	663	c.461G>T	c.(460-462)aGg>aTg	p.R154M	ING2_ENST00000434682.2_Missense_Mutation_p.R114M	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	154					chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	chromatin binding|DNA binding|protein complex binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AGACCCCGCAGGCAGCGGACC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	59	58			NA	NA	4		NA											NA				184431723		2203	4300	6503	SO:0001583	missense			AB012853	CCDS3833.1	4q35.1	2013-01-28	2005-02-10	2005-02-11	ENSG00000168556	ENSG00000168556	3622	3622		Zinc fingers, PHD-type	6063	protein-coding gene	gene with protein product		604215	inhibitor of growth family, member 1-like	ING1L	NA	10072587	Standard	NM_001564	XM_005262982	NA	Approved	p33ING2	uc003ivs.1	Q9H160	OTTHUMG00000150502	ENST00000302327.3:c.461G>T	4.37:g.184431723G>T	ENSP00000307183:p.Arg154Met	NA	O95698	37	CCDS3833.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937902	0.73557	.	.	ENSG00000168556	ENST00000302327;ENST00000412117;ENST00000434682	.	.	.	5.55	5.55	0.83447	.	0.211158	0.45867	D	0.000337	T	0.78941	0.4363	M	0.68952	2.095	0.58432	D	0.99999	D;D	0.76494	0.999;0.998	D;P	0.77557	0.99;0.819	T	0.78871	-0.2033	9	0.62326	D	0.03	-2.902	19.6941	0.96016	0.0:0.0:1.0:0.0	.	114;154	B6ZDS1;Q9H160	.;ING2_HUMAN	M	154;114;114	.	ENSP00000307183:R154M	R	+	2	0	ING2	184668717	1.000000	0.71417	0.974000	0.42286	0.955000	0.61496	9.222000	0.95196	2.885000	0.99019	0.655000	0.94253	AGG	ING2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318652.1		+	ENST00000302327.3	Missense_Mutation	SNP	4 : 184431723 - 184431723 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	273	51
CLK3	1198	broad.mit.edu	37	15	74911640	74911640	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74911640C>T	ENST00000395066.3	+	2	1008	c.547C>T	c.(547-549)Cga>Tga	p.R183*	CLK3_ENST00000345005.4_Nonsense_Mutation_p.R35*|CLK3_ENST00000352989.5_Nonsense_Mutation_p.R35*|CLK3_ENST00000348245.3_Nonsense_Mutation_p.R35*	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	183	Arg-rich.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						AGGGAGACTGCGATACCCGTC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(133;694 1754 28950 29027 31859)							NA				0													161	139	146			NA	NA	15		NA											NA				74911640		2197	4296	6493	SO:0001587	stop_gained			L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335	1198	1198		CDC-like kinases	2071	protein-coding gene	gene with protein product		602990			NA	7990150, 9856501	Standard		NM_003992	NA	Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.547C>T	15.37:g.74911640C>T	ENSP00000378505:p.Arg183*	NA	D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	37	CCDS45304.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929923	0.92389	.	.	ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830;ENST00000352989;ENST00000348245	.	.	.	4.74	4.74	0.60224	.	0.514121	0.17940	N	0.156900	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	15.699	0.77528	0.0:1.0:0.0:0.0	.	.	.	.	X	35;35;183;35;35	.	ENSP00000344112:R35X	R	+	1	2	CLK3	72698693	0.998000	0.40836	0.979000	0.43373	0.949000	0.60115	2.819000	0.48049	2.464000	0.83262	0.655000	0.94253	CGA	CLK3-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390442.3		+	ENST00000395066.3	Nonsense_Mutation	SNP	15 : 74911640 - 74911640 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	774	118
OR8J3	81168	broad.mit.edu	37	11	55905003	55905003	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55905003T>A	ENST00000301529.1	-	1	191	c.192A>T	c.(190-192)agA>agT	p.R64S		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TAGCTAGATGTCTCAGGAAAA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	139	140			NA	NA	11		NA											NA				55905003		2201	4296	6497	SO:0001583	missense				CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822	81168	81168		GPCR / Class A : Olfactory receptors	15312	protein-coding gene	gene with protein product					NA		Standard	NM_001004064	NM_001004064	NA	Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.192A>T	11.37:g.55905003T>A	ENSP00000301529:p.Arg64Ser	NA	Q6IFB6|Q96RC2	37	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	T	2.806	-0.248077	0.05867	.	.	ENSG00000167822	ENST00000301529	T	0.01051	5.4	3.26	-6.53	0.01866	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000072	T	0.00608	0.0020	N	0.12887	0.27	0.09310	N	1	B	0.27117	0.168	B	0.38842	0.283	T	0.45175	-0.9279	10	0.02654	T	1	.	2.4217	0.04449	0.1025:0.2904:0.3208:0.2863	.	64	Q8NGG0	OR8J3_HUMAN	S	64	ENSP00000301529:R64S	ENSP00000301529:R64S	R	-	3	2	OR8J3	55661579	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	-1.356000	0.02609	-0.934000	0.03733	0.240000	0.17902	AGA	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391542.1		-	ENST00000301529.1	Missense_Mutation	SNP	11 : 55905003 - 55905003 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	783	151
LRRC27	80313	broad.mit.edu	37	10	134158066	134158066	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134158066C>T	ENST00000368614.3	+	5	570	c.465C>T	c.(463-465)ctC>ctT	p.L155L	LRRC27_ENST00000368610.3_Silent_p.L93L|LRRC27_ENST00000368615.3_Silent_p.L155L|LRRC27_ENST00000344079.5_Silent_p.L155L|LRRC27_ENST00000432555.2_Silent_p.L28L|LRRC27_ENST00000356571.4_Missense_Mutation_p.R136C|LRRC27_ENST00000392638.2_Silent_p.L155L|LRRC27_ENST00000368612.1_Silent_p.L93L|LRRC27_ENST00000368613.4_Silent_p.L155L	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	155										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CTCCTCAGCTCGTTGTGCAGA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	132	134			NA	NA	10		NA											NA				134158066		2203	4300	6503	SO:0001819	synonymous_variant			AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814	80313	80313			29346	protein-coding gene	gene with protein product					NA	11214970	Standard	XM_290462	NM_030626	NA	Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.465C>T	10.37:g.134158066C>T		NA	A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	37	CCDS31316.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.78|10.78	1.447569|1.447569	0.26074|0.26074	.|.	.|.	ENSG00000148814|ENSG00000148814	ENST00000356571|ENST00000450442	T|.	0.62941|.	-0.01|.	5.16|5.16	-10.3|-10.3	0.00346|0.00346	.|.	.|.	.|.	.|.	.|.	T|T	0.25005|0.25005	0.0607|0.0607	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.23940|0.23940	-1.0174|-1.0174	6|4	0.49607|.	T|.	0.09|.	-1.6037|-1.6037	9.3344|9.3344	0.38040|0.38040	0.0:0.1366:0.4286:0.4348|0.0:0.1366:0.4286:0.4348	.|.	.|.	.|.	.|.	C|L	136|107	ENSP00000348978:R136C|.	ENSP00000348978:R136C|.	R|S	+|+	1|2	0|0	LRRC27|LRRC27	134008056|134008056	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.558000|-1.558000	0.02164|0.02164	-2.268000|-2.268000	0.00685|0.00685	-0.136000|-0.136000	0.14681|0.14681	CGT|TCG	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051058.2		+	ENST00000368614.3	Silent	SNP	10 : 134158066 - 134158066 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	580	117
RIPK3	11035	broad.mit.edu	37	14	24808519	24808519	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24808519G>T	ENST00000216274.5	-	3	391	c.173C>A	c.(172-174)tCc>tAc	p.S58Y	RIPK3_ENST00000554338.1_5'UTR	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	58	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		GACCTCCCTGGATATCGCCTT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(58;918 1191 4668 13304 15331)							NA				0													88	77	80			NA	NA	14		NA											NA				24808519		2203	4300	6503	SO:0001583	missense			AF156884	CCDS9628.1	14q12	2006-05-15			ENSG00000129465	ENSG00000129465	11035	11035			10021	protein-coding gene	gene with protein product		605817			NA	10339433, 10358032	Standard	NM_006871	NM_006871	NA	Approved	RIP3	uc001wpb.3	Q9Y572	OTTHUMG00000029349	ENST00000216274.5:c.173C>A	14.37:g.24808519G>T	ENSP00000216274:p.Ser58Tyr	NA	B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	37	CCDS9628.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.728327	0.48833	.	.	ENSG00000129465	ENST00000216274	T	0.66815	-0.23	4.69	2.85	0.33270	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.592034	0.15399	N	0.264383	T	0.67924	0.2945	L	0.48260	1.515	0.09310	N	1	D;D	0.76494	0.994;0.999	P;D	0.83275	0.879;0.996	T	0.57573	-0.7788	10	0.02654	T	1	-5.91	6.448	0.21887	0.099:0.1844:0.7166:0.0	.	58;58	B4DJZ5;Q9Y572	.;RIPK3_HUMAN	Y	58	ENSP00000216274:S58Y	ENSP00000216274:S58Y	S	-	2	0	RIPK3	23878359	0.016000	0.18221	0.040000	0.18447	0.098000	0.18820	0.190000	0.17057	0.701000	0.31803	-0.304000	0.09214	TCC	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000073203.4		-	ENST00000216274.5	Missense_Mutation	SNP	14 : 24808519 - 24808519 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	598	117
AKAP9	10142	broad.mit.edu	37	7	91714146	91714146	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91714146C>T	ENST00000356239.3	+	35	8957	c.8724C>T	c.(8722-8724)gaC>gaT	p.D2908D	AKAP9_ENST00000359028.2_Silent_p.D2912D|AKAP9_ENST00000358100.2_Intron	NM_005751.4|NM_147185.2	NP_005742.4|NP_671714.1	Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2912					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTGGATCAGACTGGGGTCAGG	0.353		NA	T	BRAF	papillary thyroid									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													98	102	100			NA	NA	7		NA											NA				91714146		2203	4300	6503	SO:0001819	synonymous_variant			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914	10142	10142		A-kinase anchor proteins, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	379	protein-coding gene	gene with protein product	A-kinase anchoring protein 450, AKAP9-BRAF fusion protein, AKAP120-like protein, centrosome- and golgi-localized protein kinase N-associated protein, protein kinase A anchoring protein 9, A-kinase anchor protein, 350kDa, protein phosphatase 1, regulatory subunit 45, yotiao	604001			NA	9482789, 10390370, 24475373	Standard	NM_005751	NM_147185	NA	Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000356239.3:c.8724C>T	7.37:g.91714146C>T		NA	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	37	CCDS5622.1	.	.	.	.	.	.	.	.	.	.	C	7.563	0.665143	0.14710	.	.	ENSG00000127914	ENST00000435423	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	T	0.65228	0.2671	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63148	-0.6702	4	.	.	.	.	13.363	0.60667	0.0:0.9237:0.0:0.0763	.	.	.	.	I	53	.	.	T	+	2	0	AKAP9	91552082	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	1.841000	0.39240	2.577000	0.86979	0.561000	0.74099	ACT	AKAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253808.2		+	ENST00000356239.3	Silent	SNP	7 : 91714146 - 91714146 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	839	148
ANO8	57719	broad.mit.edu	37	19	17435885	17435885	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17435885G>A	ENST00000159087.4	-	17	3130	c.2972C>T	c.(2971-2973)tCa>tTa	p.S991L		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	991						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						TGTGGCCCCTGACGAGAGGAA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	88	85			NA	NA	19		NA											NA				17435885		2203	4300	6503	SO:0001583	missense			AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855	57719	57719		Ion channels / Chloride channels : Calcium activated : Anoctamins	29329	protein-coding gene	gene with protein product		610216	KIAA1623, transmembrane protein 16H	KIAA1623, TMEM16H	NA	10997877, 24692353	Standard	XM_050644	NM_020959	NA	Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.2972C>T	19.37:g.17435885G>A	ENSP00000159087:p.Ser991Leu	NA	A6NIJ0	37	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914818	0.33815	.	.	ENSG00000074855	ENST00000159087	T	0.67171	-0.25	3.87	3.87	0.44632	.	0.798338	0.11379	N	0.570010	T	0.74718	0.3753	L	0.36672	1.1	0.37414	D	0.913357	D	0.71674	0.998	D	0.76071	0.987	T	0.76231	-0.3035	10	0.72032	D	0.01	.	13.3031	0.60336	0.0:0.0:1.0:0.0	.	991	Q9HCE9	ANO8_HUMAN	L	991	ENSP00000159087:S991L	ENSP00000159087:S991L	S	-	2	0	ANO8	17296885	0.004000	0.15560	0.017000	0.16124	0.015000	0.08874	1.458000	0.35223	1.697000	0.51169	0.478000	0.44815	TCA	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462943.1		-	ENST00000159087.4	Missense_Mutation	SNP	19 : 17435885 - 17435885 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1235	202
LRRIQ1	84125	broad.mit.edu	37	12	85554402	85554402	+	Missense_Mutation	SNP	C	C	T	rs10161468	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:85554402C>T	ENST00000393217.2	+	24	4793	c.4732C>T	c.(4732-4734)Cgt>Tgt	p.R1578C	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1578										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TTCCACTGTGCGTCTAGCCTT	0.358		NA											C	9	0.0041	0.02	NA	2184	NA	0.9999	,	,	NA	2e-04	NA	NA	NA	0.0042	0.9895	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				0								C	CYS/ARG	39,3609		0,39,1785	121	109	113		4732	2.7	0	12	dbSNP_119	113	1,8173		0,1,4086	yes	missense	LRRIQ1	NM_001079910.1	180	0,40,5871	TT,TC,CC	NA	0.0122,1.0691,0.3384	benign	1578/1723	85554402	40,11782	1824	4087	5911	SO:0001583	missense			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640	84125	84125			25708	protein-coding gene	gene with protein product					NA	11347906	Standard	NM_032165	NM_001079910	NA	Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4732C>T	12.37:g.85554402C>T	ENSP00000376910:p.Arg1578Cys	NA	Q567P4|Q9BS17|Q9HA36	37	CCDS41816.1	9	0.004120879120879121	9	0.018292682926829267	0	0.0	0	0.0	0	0.0	C	7.164	0.586225	0.13749	0.010691	1.22E-4	ENSG00000133640	ENST00000393217	T	0.69040	-0.37	4.63	2.73	0.32206	.	.	.	.	.	T	0.31071	0.0785	L	0.27053	0.805	0.39311	D	0.965074	B	0.32800	0.385	B	0.20767	0.031	T	0.33240	-0.9876	9	0.56958	D	0.05	.	9.0639	0.36451	0.1471:0.775:0.0:0.0779	rs10161468;rs10161468	1578	Q96JM4	LRIQ1_HUMAN	C	1578	ENSP00000376910:R1578C	ENSP00000376910:R1578C	R	+	1	0	LRRIQ1	84078533	0.999000	0.42202	0.025000	0.17156	0.476000	0.33039	0.585000	0.23879	0.442000	0.26555	0.557000	0.71058	CGT	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388249.2		+	ENST00000393217.2	Missense_Mutation	SNP	12 : 85554402 - 85554402 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	287	37
CCL3	6348	broad.mit.edu	37	17	34416585	34416585	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34416585C>A	ENST00000225245.5	-	2	214	c.132G>T	c.(130-132)caG>caT	p.Q44H	AC069363.1_ENST00000592728.1_RNA|AC069363.1_ENST00000590992.1_RNA|AC069363.1_ENST00000441575.1_RNA	NM_002983.2	NP_002974.1	P10147	CCL3_HUMAN	chemokine (C-C motif) ligand 3	44					cell-cell signaling|cellular calcium ion homeostasis|cellular component movement|cytoskeleton organization|exocytosis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|regulation of viral genome replication	extracellular space|soluble fraction	chemoattractant activity|chemokine activity|signal transducer activity			breast(2)|lung(3)|urinary_tract(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTATGAAATTCTGTGGAATCT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	156	154			NA	NA	17		NA											NA				34416585		2203	4297	6500	SO:0001583	missense			M23178	CCDS11307.1	17q12	2014-05-06	2002-08-22	2002-08-23	ENSG00000006075	ENSG00000277632	6348	6348		Chemokine ligands, Endogenous ligands	10627	protein-coding gene	gene with protein product		182283	small inducible cytokine A3 (homologous to mouse Mip-1a)	SCYA3	NA		Standard	NM_002983	NM_002983	NA	Approved	G0S19-1, LD78ALPHA, MIP-1-alpha	uc002hkv.3	P10147	OTTHUMG00000188413	ENST00000225245.5:c.132G>T	17.37:g.34416585C>A	ENSP00000225245:p.Gln44His	NA		37	CCDS11307.1	.	.	.	.	.	.	.	.	.	.	.	16.09	3.023500	0.54683	.	.	ENSG00000006075	ENST00000225245	T	0.04917	3.53	5.4	-7.67	0.01272	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	1.283240	0.04979	N	0.465208	T	0.04634	0.0126	.	.	.	0.09310	N	1	P	0.41710	0.76	P	0.48598	0.583	T	0.36286	-0.9754	9	0.15499	T	0.54	.	0.8445	0.01158	0.2082:0.2022:0.1744:0.4152	.	44	P10147	CCL3_HUMAN	H	44	ENSP00000225245:Q44H	ENSP00000225245:Q44H	Q	-	3	2	CCL3	31440698	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.603000	0.05674	-1.016000	0.03371	-0.948000	0.02665	CAG	CCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256581.1		-	ENST00000225245.5	Missense_Mutation	SNP	17 : 34416585 - 34416585 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	781	127
SIGLEC10	89790	broad.mit.edu	37	19	51918657	51918657	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51918657C>T	ENST00000436984.2	-	7	1024	c.964G>A	c.(964-966)Gta>Ata	p.V322I	SIGLEC10_ENST00000439889.2_Missense_Mutation_p.V312I|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.V312I|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.V280I|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.V370I|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.V222I|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.V370I|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.V370I|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.V287I			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	370	Ig-like C2-type 2.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	p.V370L(1)|p.V312L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CCCTCCAGTACTGGGAGAGAC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(2)											41	43	42			NA	NA	19		NA											NA				51918657		2203	4300	6503	SO:0001583	missense			AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512	89790	89790		Sialic acid binding Ig-like lectins, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	15620	protein-coding gene	gene with protein product	sialic acid binding Ig-like lectin 10 Ig-like lectin 7, siglec-like gene 2	606091			NA	11284738	Standard	NM_033130	NM_033130	NA	Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000436984.2:c.964G>A	19.37:g.51918657C>T	ENSP00000414324:p.Val322Ile	NA	A8K1I5|A8K3C7|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	37	CCDS54304.1	.	.	.	.	.	.	.	.	.	.	.	12.47	1.947344	0.34377	.	.	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313	T;T;T;T;T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51	4.64	3.59	0.41128	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.417373	0.20806	N	0.085331	T	0.26122	0.0637	L	0.45470	1.425	0.24844	N	0.992441	D;D;D;D;D;D;P;P	0.89917	0.972;0.996;1.0;0.999;1.0;1.0;0.674;0.881	D;D;D;D;D;D;B;P	0.91635	0.946;0.998;0.999;0.988;0.999;0.999;0.291;0.694	T	0.01626	-1.1309	10	0.41790	T	0.15	.	9.0636	0.36449	0.0:0.8925:0.0:0.1075	.	322;280;370;222;370;312;312;370	C9JM10;E9PL79;B7ZL04;C9JJ33;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;.;.;SIG10_HUMAN	I	370;287;222;370;312;280;312;322;370	ENSP00000342389:V370I;ENSP00000396742:V287I;ENSP00000395475:V222I;ENSP00000348646:V370I;ENSP00000408387:V312I;ENSP00000431444:V280I;ENSP00000389132:V312I;ENSP00000414324:V322I;ENSP00000345243:V370I	ENSP00000345243:V370I	V	-	1	0	SIGLEC10	56610469	0.940000	0.31905	0.759000	0.31340	0.187000	0.23431	2.191000	0.42640	2.135000	0.66039	0.462000	0.41574	GTA	SIGLEC10-005	KNOWN	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384618.1		-	ENST00000436984.2	Missense_Mutation	SNP	19 : 51918657 - 51918657 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	389	51
TNC	3371	broad.mit.edu	37	9	117845074	117845074	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117845074G>T	ENST00000341037.4	-	4	2272	c.2144C>A	c.(2143-2145)cCt>cAt	p.P715H	TNC_ENST00000537320.1_Missense_Mutation_p.P715H|TNC_ENST00000346706.3_Missense_Mutation_p.P715H|TNC_ENST00000340094.3_Missense_Mutation_p.P715H|TNC_ENST00000345230.3_Missense_Mutation_p.P715H|TNC_ENST00000423613.2_Missense_Mutation_p.P715H|TNC_ENST00000350763.4_Missense_Mutation_p.P715H|TNC_ENST00000542877.1_Missense_Mutation_p.P715H|TNC_ENST00000535648.1_Missense_Mutation_p.P715H			P24821	TENA_HUMAN	tenascin C	715	Fibronectin type-III 2.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CAGGCCTTCAGGTGCAGGTAA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	95	100			NA	NA	9		NA											NA				117845074		2203	4300	6503	SO:0001583	missense				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982	3371	3371		Fibrinogen C domain containing, Fibronectin type III domain containing	5318	protein-coding gene	gene with protein product	hexabrachion (tenascin)	187380	hexabrachion (tenascin C, cytotactin), deafness, autosomal dominant 56	HXB, DFNA56	NA	1704365, 1707164, 23936043	Standard	NM_002160	NM_002160	NA	Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000341037.4:c.2144C>A	9.37:g.117845074G>T	ENSP00000339553:p.Pro715His	NA	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	37		.	.	.	.	.	.	.	.	.	.	G	28.3	4.908000	0.92107	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.79940	-1.32;-0.68;-1.32;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	5.88	5.88	0.94601	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.050234	0.85682	D	0.000000	D	0.90188	0.6933	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90283	0.4316	10	0.87932	D	0	.	20.2092	0.98286	0.0:0.0:1.0:0.0	.	715;715	E9PC84;P24821	.;TENA_HUMAN	H	715	ENSP00000344400:P715H;ENSP00000438152:P715H;ENSP00000344555:P715H;ENSP00000345861:P715H;ENSP00000265131:P715H;ENSP00000339553:P715H;ENSP00000411406:P715H;ENSP00000443478:P715H;ENSP00000442242:P715H	ENSP00000344400:P715H	P	-	2	0	TNC	116884895	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.848000	0.99507	2.776000	0.95493	0.655000	0.94253	CCT	TNC-011	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000397659.2		-	ENST00000341037.4	Missense_Mutation	SNP	9 : 117845074 - 117845074 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	275	27
CASD1	64921	broad.mit.edu	37	7	94180661	94180661	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94180661C>T	ENST00000297273.4	+	15	2114	c.1827C>T	c.(1825-1827)caC>caT	p.H609H		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	609						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TAGTTTTCCACGGAATGCTGT	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	68	67			NA	NA	7		NA											NA				94180661		2201	4296	6497	SO:0001819	synonymous_variant			AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995	64921	64921			16014	protein-coding gene	gene with protein product	chromosome 7 open reading frame 12	611686			NA	11703667, 11528394	Standard	NM_022900	NM_022900	NA	Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.1827C>T	7.37:g.94180661C>T		NA	B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	37	CCDS5636.1																																																																																			CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255216.1		+	ENST00000297273.4	Silent	SNP	7 : 94180661 - 94180661 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	200	18
ALPI	248	broad.mit.edu	37	2	233321075	233321075	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233321075G>A	ENST00000295463.3	+	2	161	c.84G>A	c.(82-84)ccG>ccA	p.P28P		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	28					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		AGGAGAACCCGGCCTTCTGGA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	69	67			NA	NA	2		NA											NA				233321075		2203	4300	6503	SO:0001819	synonymous_variant			M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	248	248	3.1.3.1		437	protein-coding gene	gene with protein product		171740			NA	3468508, 3469665	Standard	NM_001631	NM_001631	NA	Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.84G>A	2.37:g.233321075G>A		NA	B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	37	CCDS2492.1																																																																																			ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257035.2		+	ENST00000295463.3	Silent	SNP	2 : 233321075 - 233321075 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	441	68
CXorf40B	541578	broad.mit.edu	37	X	149100935	149100935	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149100935C>T	ENST00000370406.3	-	5	1132	c.304G>A	c.(304-306)Gat>Aat	p.D102N	CXorf40B_ENST00000355203.2_Missense_Mutation_p.D102N|CXorf40B_ENST00000370404.1_Missense_Mutation_p.D102N|CXorf40B_ENST00000462691.1_Missense_Mutation_p.D102N			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	102										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					ACAACCTCATCGGGAGTTAAG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	120	125			NA	NA	X		NA											NA				149100935		2200	4299	6499	SO:0001583	missense			BC009523	CCDS35426.1	Xq28	2012-11-28			ENSG00000197021	ENSG00000197021	541578	541578			17402	protein-coding gene	gene with protein product					NA		Standard	NP_001013867	XM_005274698	NA	Approved		uc004fdy.3	Q96DE9	OTTHUMG00000034327	ENST00000370406.3:c.304G>A	X.37:g.149100935C>T	ENSP00000359434:p.Asp102Asn	NA		37	CCDS35426.1	.	.	.	.	.	.	.	.	.	.	c	0.900	-0.722721	0.03158	.	.	ENSG00000197021	ENST00000462691;ENST00000370406;ENST00000355203;ENST00000370404	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	3.22	-0.0889	0.13671	PUA-like domain (1);	1.024090	0.07763	N	0.950486	T	0.21062	0.0507	L	0.51422	1.61	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30707	-0.9969	10	0.34782	T	0.22	-0.026	4.5761	0.12234	0.0:0.4414:0.3349:0.2237	.	102	Q96DE9	CX04B_HUMAN	N	102	ENSP00000417546:D102N;ENSP00000359434:D102N;ENSP00000347339:D102N;ENSP00000359432:D102N	ENSP00000347339:D102N	D	-	1	0	CXorf40B	148851593	0.001000	0.12720	0.000000	0.03702	0.012000	0.07955	0.764000	0.26532	-0.477000	0.06832	-0.731000	0.03576	GAT	CXorf40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000082896.2		-	ENST00000370406.3	Missense_Mutation	SNP	X : 149100935 - 149100935 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	225	22
ABCA9	10350	broad.mit.edu	37	17	67020491	67020491	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67020491C>T	ENST00000340001.4	-	17	2356	c.2145G>A	c.(2143-2145)ttG>ttA	p.L715L	ABCA9_ENST00000453985.2_Silent_p.L715L|ABCA9_ENST00000370732.2_Silent_p.L715L	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	715	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CATTCAGATGCAAACTAACAT	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	30	31			NA	NA	17		NA											NA				67020491		2201	4295	6496	SO:0001819	synonymous_variant			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258	10350	10350		ATP binding cassette transporters / subfamily A	39	protein-coding gene	gene with protein product		612507			NA		Standard	NM_172386	XM_005256934	NA	Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2145G>A	17.37:g.67020491C>T		NA	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	37	CCDS11681.1																																																																																			ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277072.2		-	ENST00000340001.4	Silent	SNP	17 : 67020491 - 67020491 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	110	13
PRPF3	9129	broad.mit.edu	37	1	150307598	150307598	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150307598C>T	ENST00000324862.6	+	7	1086	c.921C>T	c.(919-921)tcC>tcT	p.S307S	PRPF3_ENST00000543398.1_Silent_p.S172S|PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Silent_p.S258S	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	307					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		ACATGGAATCCAATACCTTTT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(168;1070 2670 5178 20729)							NA				0													91	85	87			NA	NA	1		NA											NA				150307598		2203	4300	6503	SO:0001819	synonymous_variant			AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360	9129	9129			17348	protein-coding gene	gene with protein product		607301	retinitis pigmentosa 18 (autosomal dominant), PRP3 pre-mRNA processing factor 3 homolog (yeast), PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)	RP18	NA		Standard	NM_004698	NM_004698	NA	Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.921C>T	1.37:g.150307598C>T		NA	O43446|Q5VT54	37	CCDS951.1																																																																																			PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000035836.1		+	ENST00000324862.6	Silent	SNP	1 : 150307598 - 150307598 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	282	20
DOCK4	9732	broad.mit.edu	37	7	111379299	111379299	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111379299G>A	ENST00000428084.1	-	49	5395	c.5123C>T	c.(5122-5124)gCt>gTt	p.A1708V	DOCK4_ENST00000494651.2_Splice_Site_p.A582V|DOCK4_ENST00000437633.1_Splice_Site_p.A1699V			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1699	Ser-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CAAAGGAGAAGCTGGGAAGAG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	141	141			NA	NA	7		NA											NA				111379299		2018	4194	6212	SO:0001630	splice_region_variant				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512	9732	9732			19192	protein-coding gene	gene with protein product		607679			NA	12432077, 12628187	Standard	NM_014705	XM_006716188	NA	Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000428084.1:c.5123-1C>T	7.37:g.111379299G>A		NA	O14584|O94824|Q8NB45	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.4|23.4	4.409646|4.409646	0.83340|0.83340	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288|ENST00000423057;ENST00000445943	T;T;T|.	0.60920|.	0.15;0.15;0.15|.	6.05|6.05	6.05|6.05	0.98169|0.98169	.|.	0.049928|.	0.85682|.	D|.	0.000000|.	T|T	0.62877|0.62877	0.2464|0.2464	L|L	0.43152|0.43152	1.355|1.355	0.45046|0.45046	D|D	0.998063|0.998063	B;B;P;P;P;D|.	0.67145|.	0.31;0.437;0.593;0.534;0.664;0.996|.	B;B;B;B;B;P|.	0.61658|.	0.175;0.327;0.327;0.175;0.327;0.892|.	T|T	0.55976|0.55976	-0.8055|-0.8055	10|5	0.22109|.	T|.	0.4|.	.|.	16.8106|16.8106	0.85717|0.85717	0.0:0.1284:0.8716:0.0|0.0:0.1284:0.8716:0.0	.|.	606;582;1744;1699;1708;12|.	B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2;Q8N1I0-4|.	.;.;.;DOCK4_HUMAN;.;.|.	V|F	1687;1708;582;1699;1696|1160;1732	ENSP00000410746:A1708V;ENSP00000440944:A582V;ENSP00000404179:A1699V|.	ENSP00000345432:A1696V|.	A|L	-|-	2|1	0|0	DOCK4|DOCK4	111166535|111166535	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	4.463000|4.463000	0.60128|0.60128	2.880000|2.880000	0.98712|0.98712	0.655000|0.655000	0.94253|0.94253	GCT|CTT	DOCK4-005	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000338943.2	Missense_Mutation	-	ENST00000428084.1	Splice_Site	SNP	7 : 111379299 - 111379299 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	302	54
MS4A1	931	broad.mit.edu	37	11	60234492	60234492	+	Missense_Mutation	SNP	G	G	A	rs148035107		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60234492G>A	ENST00000534668.1	+	6	923	c.634G>A	c.(634-636)Gtt>Att	p.V212I	MS4A1_ENST00000345732.4_Missense_Mutation_p.V212I|MS4A1_ENST00000532073.1_Missense_Mutation_p.V199I|MS4A1_ENST00000528313.1_Missense_Mutation_p.V45I|MS4A1_ENST00000389939.2_Missense_Mutation_p.V212I	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	212					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	AGCTGGCATCGTTGAGAATGA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ILE/VAL,ILE/VAL	5,4401	9.9+/-24.2	0,5,2198	146	130	135		634,634	3	0.2	11	dbSNP_134	135	0,8600		0,0,4300	yes	missense,missense	MS4A1	NM_021950.3,NM_152866.2	29,29	0,5,6498	AA,AG,GG	NA	0.0,0.1135,0.0384	possibly-damaging,possibly-damaging	212/298,212/298	60234492	5,13001	2203	4300	6503	SO:0001583	missense			M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738	931	931		CD molecules	7315	protein-coding gene	gene with protein product		112210		CD20	NA	2448768	Standard		NM_152866	NA	Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.634G>A	11.37:g.60234492G>A	ENSP00000433277:p.Val212Ile	NA	A6NMS4|P08984|Q13963	37	CCDS31570.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.706724	0.30232	0.001135	0.0	ENSG00000156738	ENST00000345732;ENST00000532073;ENST00000534668;ENST00000528313;ENST00000389939	T;T;T;T	0.27256	4.33;1.68;4.33;4.33	5.3	3.04	0.35103	.	0.557191	0.17623	N	0.167661	T	0.24699	0.0599	M	0.68317	2.08	0.09310	N	1	B;D;D	0.57571	0.055;0.98;0.98	B;B;B	0.43754	0.011;0.43;0.43	T	0.11792	-1.0573	10	0.27082	T	0.32	-17.187	5.8159	0.18492	0.2652:0.0:0.7348:0.0	.	45;199;212	B4DT24;E9PKH8;P11836	.;.;CD20_HUMAN	I	212;199;212;45;212	ENSP00000314620:V212I;ENSP00000433519:V199I;ENSP00000433277:V212I;ENSP00000374589:V212I	ENSP00000314620:V212I	V	+	1	0	MS4A1	59991068	0.696000	0.27757	0.172000	0.22920	0.071000	0.16799	2.818000	0.48041	1.387000	0.46486	-0.136000	0.14681	GTT	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395402.1		+	ENST00000534668.1	Missense_Mutation	SNP	11 : 60234492 - 60234492 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	588	116
TAS2R10	50839	broad.mit.edu	37	12	10978550	10978550	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10978550A>C	ENST00000240619.2	-	1	407	c.319T>G	c.(319-321)Ttc>Gtc	p.F107V		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	107					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						ATCTTCAGGAAATAGAAGATG	0.343		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	12		NA											NA				10978550		2203	4297	6500	SO:0001583	missense			AF227136	CCDS8634.1	12p13	2012-08-22			ENSG00000121318	ENSG00000121318	50839	50839		Taste receptors / Type 2, GPCR / Unclassified : Taste receptors	14918	protein-coding gene	gene with protein product		604791			NA	10761934, 10766242	Standard		NM_023921	NA	Approved	T2R10, TRB2	uc001qyy.1	Q9NYW0	OTTHUMG00000168508	ENST00000240619.2:c.319T>G	12.37:g.10978550A>C	ENSP00000240619:p.Phe107Val	NA	Q3MIM9|Q6NTD9	37	CCDS8634.1	.	.	.	.	.	.	.	.	.	.	A	17.57	3.422233	0.62622	.	.	ENSG00000121318	ENST00000240619	T	0.39056	1.1	4.67	4.67	0.58626	.	0.232278	0.33235	N	0.005138	T	0.65637	0.2710	M	0.90483	3.12	0.26369	N	0.976916	D	0.64830	0.994	D	0.69479	0.964	T	0.62369	-0.6869	10	0.59425	D	0.04	.	7.9563	0.30045	0.8171:0.0:0.0:0.1829	.	107	Q9NYW0	T2R10_HUMAN	V	107	ENSP00000240619:F107V	ENSP00000240619:F107V	F	-	1	0	TAS2R10	10869817	0.817000	0.29147	1.000000	0.80357	0.959000	0.62525	2.207000	0.42788	1.868000	0.54150	0.482000	0.46254	TTC	TAS2R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399934.1		-	ENST00000240619.2	Missense_Mutation	SNP	12 : 10978550 - 10978550 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	54
EPB41L2	2037	broad.mit.edu	37	6	131199340	131199340	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131199340A>G	ENST00000527411.1	-	12	1964				EPB41L2_ENST00000530757.1_Silent_p.S48S|EPB41L2_ENST00000337057.3_Silent_p.S649S|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000524581.1_Silent_p.S27S|EPB41L2_ENST00000529208.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000368128.2_Silent_p.S649S|EPB41L2_ENST00000531410.1_Intron			O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	NA					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GCTTGAGTTCACTAATGCTAG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													208	173	185			NA	NA	6		NA											NA				131199340		2203	4300	6503	SO:0001627	intron_variant			AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819	2037	2037			3379	protein-coding gene	gene with protein product		603237			NA	9598318, 9828140	Standard		NM_001431	NA	Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000527411.1:c.1833+6895T>C	6.37:g.131199340A>G		NA	Q5T4F0	37		.	.	.	.	.	.	.	.	.	.	A	11.45	1.641157	0.29157	.	.	ENSG00000079819	ENST00000456097	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0395	0.80654	1.0:0.0:0.0:0.0	.	.	.	.	R	140	.	.	X	-	1	0	EPB41L2	131241033	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.494000	0.66905	2.188000	0.69820	0.533000	0.62120	TGA	EPB41L2-018	NOVEL	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000390662.1		-	ENST00000527411.1	Intron	SNP	6 : 131199340 - 131199340 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	64
OR8D2	283160	broad.mit.edu	37	11	124190029	124190029	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124190029T>C	ENST00000357438.2	-	1	155	c.65A>G	c.(64-66)gAa>gGa	p.E22G		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		CAGTTGAAGTTCTGGGCGTTG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	68	68			NA	NA	11		NA											NA				124190029		2200	4299	6499	SO:0001583	missense			AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263	283160	283160		GPCR / Class A : Olfactory receptors	8482	protein-coding gene	gene with protein product					NA		Standard	NM_001002918	NM_001002918	NA	Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.65A>G	11.37:g.124190029T>C	ENSP00000350022:p.Glu22Gly	NA	B9EH49|Q6IFR0	37	CCDS31707.1	.	.	.	.	.	.	.	.	.	.	t	12.32	1.902945	0.33628	.	.	ENSG00000197263	ENST00000357438	T	0.00444	7.4	3.42	2.3	0.28687	.	0.142247	0.31577	N	0.007408	T	0.00384	0.0012	L	0.46741	1.465	0.26868	N	0.967817	D	0.56035	0.974	P	0.47981	0.563	T	0.55431	-0.8142	10	0.40728	T	0.16	.	8.0264	0.30440	0.0:0.1052:0.0:0.8948	.	22	Q9GZM6	OR8D2_HUMAN	G	22	ENSP00000350022:E22G	ENSP00000350022:E22G	E	-	2	0	OR8D2	123695239	0.001000	0.12720	0.939000	0.37840	0.187000	0.23431	0.995000	0.29706	0.712000	0.32039	0.324000	0.21423	GAA	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387286.1		-	ENST00000357438.2	Missense_Mutation	SNP	11 : 124190029 - 124190029 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	600	120
NBEAL2	23218	broad.mit.edu	37	3	47040450	47040450	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47040450C>T	ENST00000450053.3	+	24	3565	c.3386C>T	c.(3385-3387)gCg>gTg	p.A1129V	NBEAL2_ENST00000292309.5_Intron|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1129							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CATCCCCAGGCGGTGGGTGCG	0.657		NA									OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	42	39			NA	NA	3		NA											NA				47040450		2158	4244	6402	SO:0001630	splice_region_variant			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796	23218	23218		WD repeat domain containing	31928	protein-coding gene	gene with protein product		614169			NA		Standard	XM_291064	NM_015175	NA	Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.3385-1C>T	3.37:g.47040450C>T		943	O60288|Q6P994|Q6UX91|Q8NAC9	37	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	T	0.046	-1.267371	0.01433	.	.	ENSG00000160796	ENST00000450053	T	0.20332	2.08	5.29	2.92	0.33932	.	.	.	.	.	T	0.04272	0.0118	N	0.00436	-1.5	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30563	-0.9974	9	0.05959	T	0.93	.	7.3518	0.26695	0.0:0.2562:0.0:0.7438	.	1129	Q6ZNJ1	NBEL2_HUMAN	V	1129	ENSP00000415034:A1129V	ENSP00000415034:A1129V	A	+	2	0	NBEAL2	47015454	0.954000	0.32549	0.874000	0.34290	0.113000	0.19764	1.301000	0.33447	0.425000	0.26087	-0.361000	0.07541	GCG	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344363.3	Missense_Mutation	+	ENST00000450053.3	Splice_Site	SNP	3 : 47040450 - 47040450 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	72	17
PADI3	51702	broad.mit.edu	37	1	17597649	17597649	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17597649G>T	ENST00000375460.3	+	9	1063	c.1023G>T	c.(1021-1023)gaG>gaT	p.E341D		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	341					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CACAGGCCGAGAACCGCAACG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	42	43			NA	NA	1		NA											NA				17597649		2203	4300	6503	SO:0001583	missense			AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	51702	51702	3.5.3.15	Peptidyl arginine deiminases	18337	protein-coding gene	gene with protein product		606755			NA	11069618	Standard		NM_016233	NA	Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.1023G>T	1.37:g.17597649G>T	ENSP00000364609:p.Glu341Asp	NA	Q58EY7|Q70SX5	37	CCDS179.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.593350	0.28357	.	.	ENSG00000142619	ENST00000375460	T	0.25749	1.78	5.35	2.39	0.29439	Protein-arginine deiminase, C-terminal (1);	0.157632	0.56097	D	0.000028	T	0.22085	0.0532	M	0.67397	2.05	0.36617	D	0.875516	B	0.27316	0.175	B	0.27887	0.084	T	0.11324	-1.0592	10	0.15952	T	0.53	-29.1634	6.0443	0.19752	0.0749:0.1355:0.6491:0.1405	.	341	Q9ULW8	PADI3_HUMAN	D	341	ENSP00000364609:E341D	ENSP00000364609:E341D	E	+	3	2	PADI3	17470236	1.000000	0.71417	0.959000	0.39883	0.776000	0.43924	2.966000	0.49208	0.229000	0.21039	0.655000	0.94253	GAG	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006805.1		+	ENST00000375460.3	Missense_Mutation	SNP	1 : 17597649 - 17597649 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	213	11
RECK	8434	broad.mit.edu	37	9	36102199	36102199	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36102199G>T	ENST00000377966.3	+	12	1973	c.1407G>T	c.(1405-1407)aaG>aaT	p.K469N		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	469						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			ATGATCTGAAGAATTGTATAC	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	137	135			NA	NA	9		NA											NA				36102199		2203	4300	6503	SO:0001583	missense			E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707	8434	8434			11345	protein-coding gene	gene with protein product		605227		ST15	NA	9789069	Standard		NM_021111	NA	Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.1407G>T	9.37:g.36102199G>T	ENSP00000367202:p.Lys469Asn	NA	B2RNS1|Q5W0K6|Q8WX37	37	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.468555	0.26335	.	.	ENSG00000122707	ENST00000377966	T	0.44083	0.93	5.46	1.39	0.22231	.	0.168614	0.51477	D	0.000085	T	0.19485	0.0468	N	0.08118	0	0.27323	N	0.956981	B;B	0.09022	0.002;0.002	B;B	0.01281	0.0;0.0	T	0.14755	-1.0461	10	0.29301	T	0.29	-12.8255	8.0352	0.30488	0.4452:0.0:0.5548:0.0	.	469;469	A8K9D8;O95980	.;RECK_HUMAN	N	469	ENSP00000367202:K469N	ENSP00000367202:K469N	K	+	3	2	RECK	36092199	0.997000	0.39634	0.687000	0.30102	0.994000	0.84299	0.863000	0.27913	0.058000	0.16222	0.655000	0.94253	AAG	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052409.1		+	ENST00000377966.3	Missense_Mutation	SNP	9 : 36102199 - 36102199 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	61
VPS13B	157680	broad.mit.edu	37	8	100286495	100286495	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:100286495G>A	ENST00000358544.2	+	18	2696	c.2585G>A	c.(2584-2586)aGc>aAc	p.S862N	VPS13B_ENST00000395996.1_Missense_Mutation_p.S862N|VPS13B_ENST00000357162.2_Missense_Mutation_p.S862N	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	862					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAGTACTGCAGCACATCATTG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(161;2205 2542 7338 31318)							NA				0													112	117	115			NA	NA	8		NA											NA				100286495		2203	4300	6503	SO:0001583	missense			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549	157680	157680			2183	protein-coding gene	gene with protein product		607817	Cohen syndrome 1	CHS1, COH1	NA	7920642, 15498460	Standard	NM_184042	NM_181661	NA	Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.2585G>A	8.37:g.100286495G>A	ENSP00000351346:p.Ser862Asn	NA	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918911	0.73098	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.70986	-0.53;-0.53;-0.24	5.65	5.65	0.86999	.	0.057164	0.64402	D	0.000001	T	0.76737	0.4029	L	0.32530	0.975	0.51012	D	0.999903	D;B;B;D	0.67145	0.996;0.211;0.134;0.996	P;B;B;P	0.61070	0.883;0.13;0.061;0.883	T	0.76929	-0.2777	10	0.54805	T	0.06	.	20.0822	0.97779	0.0:0.0:1.0:0.0	.	862;862;862;862	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	N	862	ENSP00000349685:S862N;ENSP00000351346:S862N;ENSP00000379318:S862N	ENSP00000349685:S862N	S	+	2	0	VPS13B	100355671	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.143000	0.94623	2.826000	0.97356	0.563000	0.77884	AGC	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277138.1		+	ENST00000358544.2	Missense_Mutation	SNP	8 : 100286495 - 100286495 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	687	117
HMHA1	23526	broad.mit.edu	37	19	1080691	1080691	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1080691G>A	ENST00000586866.1	+	16	2010	c.1935G>A	c.(1933-1935)aaG>aaA	p.K645K	HMHA1_ENST00000590577.1_Silent_p.K276K|HMHA1_ENST00000536472.1_Silent_p.K509K|HMHA1_ENST00000543365.1_Silent_p.K524K|HMHA1_ENST00000539243.2_Silent_p.K657K|HMHA1_ENST00000313093.2_Silent_p.K641K|HMHA1_ENST00000590214.1_Silent_p.K668K			Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	641					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGACTTTAAGAAGTTCGAGC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	47	45			NA	NA	19		NA											NA				1080691		2202	4300	6502	SO:0001819	synonymous_variant			D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448	23526	23526		Rho GTPase activating proteins	17102	protein-coding gene	gene with protein product		601155			NA	9820596, 9039502	Standard		NM_012292	NA	Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000586866.1:c.1935G>A	19.37:g.1080691G>A		NA	Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	37																																																																																				HMHA1-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000458031.2		+	ENST00000586866.1	Silent	SNP	19 : 1080691 - 1080691 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	318	21
MEGF10	84466	broad.mit.edu	37	5	126674903	126674903	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:126674903A>G	ENST00000274473.6	+	4	475	c.208A>G	c.(208-210)Acg>Gcg	p.T70A	MEGF10_ENST00000418761.2_Missense_Mutation_p.T70A|MEGF10_ENST00000503335.2_Missense_Mutation_p.T70A|MEGF10_ENST00000508365.1_Missense_Mutation_p.T70A	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	70	EMI.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GTTTAAATGCACGCGGCACAG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	96	101			NA	NA	5		NA											NA				126674903		2203	4299	6502	SO:0001583	missense			AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794	84466	84466			29634	protein-coding gene	gene with protein product		612453			NA	11347906	Standard	NM_032446	NM_032446	NA	Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.208A>G	5.37:g.126674903A>G	ENSP00000274473:p.Thr70Ala	NA	Q68DE5|Q8WUL3	37	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.619901	0.87460	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.80304	-1.36;2.6;2.6;-1.36	5.91	5.91	0.95273	EMI domain (1);	0.000000	0.85682	D	0.000000	D	0.83658	0.5302	L	0.40543	1.245	0.80722	D	1	P;D	0.57571	0.875;0.98	P;D	0.64595	0.729;0.927	T	0.80178	-0.1490	10	0.19147	T	0.46	-9.5407	15.3262	0.74164	1.0:0.0:0.0:0.0	.	70;70	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	A	70	ENSP00000423354:T70A;ENSP00000423195:T70A;ENSP00000416284:T70A;ENSP00000274473:T70A	ENSP00000274473:T70A	T	+	1	0	MEGF10	126702802	1.000000	0.71417	0.991000	0.47740	0.966000	0.64601	9.165000	0.94761	2.269000	0.75478	0.533000	0.62120	ACG	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250973.2		+	ENST00000274473.6	Missense_Mutation	SNP	5 : 126674903 - 126674903 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	444	84
OXA1L	5018	broad.mit.edu	37	14	23240499	23240499	+	Silent	SNP	G	G	A	rs145104436		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23240499G>A	ENST00000358043.5	+	9	1395	c.1077G>A	c.(1075-1077)acG>acA	p.T359T	OXA1L_ENST00000412791.1_Intron|OXA1L_ENST00000285848.5_Silent_p.T435T|OXA1L_ENST00000604262.1_Silent_p.T375T			Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	375					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		CTGAAATGACGCGTCAGCTGC	0.463		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	68	71	70		1305	-11.4	0	14	dbSNP_134	70	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	OXA1L	NM_005015.3		0,3,6500	AA,AG,GG	NA	0.0349,0.0,0.0231		435/496	23240499	3,13003	2203	4300	6503	SO:0001819	synonymous_variant				CCDS9573.1	14q11.2	2009-05-26			ENSG00000155463	ENSG00000155463	5018	5018			8526	protein-coding gene	gene with protein product		601066			NA	8586451, 19349278	Standard	NM_005015	NM_005015	NA	Approved	MGC133129, OXA1	uc001wgn.2	Q15070	OTTHUMG00000028691	ENST00000358043.5:c.1077G>A	14.37:g.23240499G>A		NA	B4DPA2	37																																																																																				OXA1L-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000071632.4		+	ENST00000358043.5	Silent	SNP	14 : 23240499 - 23240499 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	271	60
LYST	1130	broad.mit.edu	37	1	235970023	235970023	+	Missense_Mutation	SNP	C	C	T	rs80338647		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235970023C>T	ENST00000389794.3	-	6	2587	c.2413G>A	c.(2413-2415)Gaa>Aaa	p.E805K	LYST_ENST00000536965.1_Missense_Mutation_p.E805K|LYST_ENST00000389793.2_Missense_Mutation_p.E805K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	805					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.E805K(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CAATTTAATTCGATTATTTGA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)	GRCh37	CD075459	LYST	D	rs80338647						67	65	66			NA	NA	1		NA											NA				235970023		2203	4300	6503	SO:0001583	missense			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669	1130	1130		WD repeat domain containing	1968	protein-coding gene	gene with protein product		606897	Chediak-Higashi syndrome 1	CHS1	NA	8717042, 8896560	Standard		NM_000081	NA	Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.2413G>A	1.37:g.235970023C>T	ENSP00000374444:p.Glu805Lys	NA	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	32	5.171114	0.94807	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.63255	-0.03;-0.03;1.1	5.44	5.44	0.79542	.	0.101671	0.64402	D	0.000002	T	0.76176	0.3951	M	0.62723	1.935	0.80722	D	1	P;D	0.89917	0.888;1.0	B;D	0.66196	0.327;0.942	T	0.72843	-0.4170	10	0.32370	T	0.25	.	19.3379	0.94326	0.0:1.0:0.0:0.0	.	805;805	Q99698-3;Q99698	.;LYST_HUMAN	K	805	ENSP00000374444:E805K;ENSP00000374443:E805K;ENSP00000438315:E805K	ENSP00000374443:E805K	E	-	1	0	LYST	234036646	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.294000	0.78760	2.585000	0.87301	0.650000	0.86243	GAA	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097533.5		-	ENST00000389794.3	Missense_Mutation	SNP	1 : 235970023 - 235970023 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	420	40
RIMBP2	23504	broad.mit.edu	37	12	130919411	130919411	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130919411G>A	ENST00000261655.4	-	11	2233	c.2070C>T	c.(2068-2070)agC>agT	p.S690S	RIMBP2_ENST00000535703.1_Silent_p.S598S|RIMBP2_ENST00000536002.1_Silent_p.S598S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	690						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CTAGGAAGACGCTCCTTTTCT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	52	51			NA	NA	12		NA											NA				130919411		2203	4300	6503	SO:0001819	synonymous_variant			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709	23504	23504			30339	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 133	611602			NA	10748113	Standard	NM_015347	NM_015347	NA	Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2070C>T	12.37:g.130919411G>A		NA	Q96ID2	37	CCDS31925.1																																																																																			RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399520.1		-	ENST00000261655.4	Silent	SNP	12 : 130919411 - 130919411 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	493	93
PFAS	5198	broad.mit.edu	37	17	8161476	8161476	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8161476C>A	ENST00000314666.6	+	11	1428	c.1295C>A	c.(1294-1296)tCc>tAc	p.S432Y	PFAS_ENST00000545834.1_Missense_Mutation_p.S8Y	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	432					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GGCATTGGGTCCATGGAAGCT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	72	72			NA	NA	17		NA											NA				8161476		2203	4300	6503	SO:0001583	missense			AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	5198	5198	6.3.5.3		8863	protein-coding gene	gene with protein product	FGAR amidotransferase	602133			NA	8110788	Standard		NM_012393	NA	Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.1295C>A	17.37:g.8161476C>A	ENSP00000313490:p.Ser432Tyr	NA	A6H8V8	37	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	C	5.260	0.233363	0.09969	.	.	ENSG00000178921	ENST00000545834;ENST00000314666	T;T	0.42131	1.51;0.98	5.78	3.66	0.41972	PurM, N-terminal-like (1);	0.110757	0.64402	D	0.000005	T	0.44159	0.1280	M	0.74258	2.255	0.53688	D	0.999974	B	0.32620	0.378	B	0.36186	0.219	T	0.42327	-0.9458	10	0.87932	D	0	-9.5672	8.5399	0.33386	0.0:0.757:0.1488:0.0942	.	432	O15067	PUR4_HUMAN	Y	8;432	ENSP00000441706:S8Y;ENSP00000313490:S432Y	ENSP00000313490:S432Y	S	+	2	0	PFAS	8102201	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.263000	0.51546	0.677000	0.31305	0.561000	0.74099	TCC	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226994.2		+	ENST00000314666.6	Missense_Mutation	SNP	17 : 8161476 - 8161476 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	561	106
SIX4	51804	broad.mit.edu	37	14	61186709	61186709	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61186709C>T	ENST00000216513.4	-	2	1377	c.1318G>A	c.(1318-1320)Gtc>Atc	p.V440I		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	440						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GAGACAGGGACACTGGGGCTG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	156	158			NA	NA	14		NA											NA				61186709		2203	4300	6503	SO:0001583	missense			AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625	51804	51804		Homeoboxes / SINE class	10890	protein-coding gene	gene with protein product		606342	sine oculis homeobox (Drosophila) homolog 4, sine oculis homeobox homolog 4 (Drosophila)		NA	10512683, 10640827	Standard		NM_017420	NA	Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.1318G>A	14.37:g.61186709C>T	ENSP00000216513:p.Val440Ile	NA	Q4QQH5|Q4V764	37	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	C	11.29	1.594048	0.28445	.	.	ENSG00000100625	ENST00000216513;ENST00000554079;ENST00000556952	D;T	0.90563	-2.69;0.92	5.72	5.72	0.89469	.	0.748974	0.13273	N	0.400382	T	0.78966	0.4367	N	0.08118	0	0.22591	N	0.998956	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.63220	-0.6686	10	0.17369	T	0.5	.	8.5689	0.33556	0.1536:0.7653:0.0:0.0811	.	432;440	G3V2N2;Q9UIU6	.;SIX4_HUMAN	I	440;113;432	ENSP00000216513:V440I;ENSP00000451537:V113I	ENSP00000216513:V440I	V	-	1	0	SIX4	60256462	0.999000	0.42202	1.000000	0.80357	0.957000	0.61999	2.017000	0.40981	2.717000	0.92951	0.655000	0.94253	GTC	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000072397.2		-	ENST00000216513.4	Missense_Mutation	SNP	14 : 61186709 - 61186709 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	616	109
HRH2	3274	broad.mit.edu	37	5	175110875	175110875	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175110875C>A	ENST00000231683.2	+	1	2412	c.639C>A	c.(637-639)gcC>gcA	p.A213A	HRH2_ENST00000377291.2_Silent_p.A213A	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	213					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	GGGATCAGGCCAAGAGGATCA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	73	75			NA	NA	5		NA											NA				175110875		2203	4300	6503	SO:0001819	synonymous_variant				CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749	NA	3274		GPCR / Class A : Histamine receptors	5183	protein-coding gene	gene with protein product		142703			NA	1714721	Standard		NM_022304	NA	Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.639C>A	5.37:g.175110875C>A		NA	B5BUP7|Q14464	37	CCDS4395.1																																																																																			HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253151.1		+	ENST00000231683.2	Silent	SNP	5 : 175110875 - 175110875 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	501	40
FTMT	94033	broad.mit.edu	37	5	121188106	121188106	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121188106C>T	ENST00000321339.1	+	1	457	c.448C>T	c.(448-450)Cag>Tag	p.Q150*		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	150	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GAAGCCGGAACAGGACGACTG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	87	87			NA	NA	5		NA											NA				121188106		2203	4300	6503	SO:0001587	stop_gained			BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867	94033	94033			17345	protein-coding gene	gene with protein product		608847			NA	11323407	Standard	NM_177478	NM_177478	NA	Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.448C>T	5.37:g.121188106C>T	ENSP00000313691:p.Gln150*	NA		37	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352415	0.61293	.	.	ENSG00000181867	ENST00000321339	.	.	.	3.6	0.63	0.17693	.	0.436377	0.21093	N	0.080300	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	5.77	0.18247	0.3134:0.5831:0.0:0.1035	.	.	.	.	X	150	.	ENSP00000313691:Q150X	Q	+	1	0	FTMT	121216005	0.000000	0.05858	0.000000	0.03702	0.896000	0.52359	0.807000	0.27140	0.104000	0.17725	0.655000	0.94253	CAG	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250884.1		+	ENST00000321339.1	Nonsense_Mutation	SNP	5 : 121188106 - 121188106 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	595	72
ACSF3	197322	broad.mit.edu	37	16	89167347	89167347	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89167347C>T	ENST00000378345.4	+	2	95				ACSF3_ENST00000406948.3_Silent_p.C86C|ACSF3_ENST00000317447.4_Silent_p.C86C			Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	NA					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GCAGGCTCTGCGGGTGTGTCG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	44	44			NA	NA	16		NA											NA				89167347		2198	4299	6497	SO:0001627	intron_variant			AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715	197322	197322		Acyl-CoA synthetase family	27288	protein-coding gene	gene with protein product	malonyl-CoA synthetase	614245			NA	17762044, 21846720	Standard	NM_174917	XM_005256293	NA	Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000378345.4:c.-129-1665C>T	16.37:g.89167347C>T		NA	A8K4J8|C9JQL6|Q6INA0|Q8N2F7	37																																																																																				ACSF3-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000395755.1		+	ENST00000378345.4	Intron	SNP	16 : 89167347 - 89167347 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	405	26
AP5S1	55317	broad.mit.edu	37	20	3804798	3804798	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3804798C>A	ENST00000246041.2	+	3	676	c.457C>A	c.(457-459)Ctg>Atg	p.L153M	AP5S1_ENST00000379573.2_3'UTR|AP5S1_ENST00000379567.2_Missense_Mutation_p.L153M			Q9NUS5	CT029_HUMAN	adaptor-related protein complex 5, sigma 1 subunit	153					double-strand break repair via homologous recombination		protein binding				NA						CCTCCGGCTGCTGGCGCCCAG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	60	66			NA	NA	20		NA											NA				3804798		2203	4300	6503	SO:0001583	missense			AK002030	CCDS13070.1	20p13	2012-02-27	2012-02-27	2012-02-27	ENSG00000125843	ENSG00000125843	55317	55317			15875	protein-coding gene	gene with protein product		614824	chromosome 20 open reading frame 29	C20orf29	NA	11780052, 22022230	Standard	NM_018347	NM_001204446	NA	Approved	FLJ11168	uc002wjs.2	Q9NUS5	OTTHUMG00000031760	ENST00000246041.2:c.457C>A	20.37:g.3804798C>A	ENSP00000246041:p.Leu153Met	NA	B3KSD0|D3DVY7	37	CCDS13070.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231087	0.58777	.	.	ENSG00000125843	ENST00000379567;ENST00000246041	.	.	.	5.72	3.79	0.43588	.	0.078451	0.52532	D	0.000067	T	0.64549	0.2608	M	0.68952	2.095	0.43657	D	0.996079	P	0.49559	0.925	P	0.54759	0.76	T	0.66767	-0.5840	9	0.66056	D	0.02	-10.604	8.023	0.30421	0.0:0.8197:0.0:0.1803	.	153	Q9NUS5	CT029_HUMAN	M	153	.	ENSP00000246041:L153M	L	+	1	2	C20orf29	3752798	1.000000	0.71417	0.990000	0.47175	0.547000	0.35210	3.130000	0.50508	1.419000	0.47118	0.561000	0.74099	CTG	AP5S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077768.2		+	ENST00000246041.2	Missense_Mutation	SNP	20 : 3804798 - 3804798 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	268	42
ZIM3	114026	broad.mit.edu	37	19	57646296	57646296	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57646296T>G	ENST00000269834.1	-	5	1794	c.1409A>C	c.(1408-1410)cAc>cCc	p.H470P		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTATCTGGAGTGAATTCTTTT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	103	103			NA	NA	19		NA											NA				57646296		2203	4300	6503	SO:0001583	missense			AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946	NA	114026		Zinc fingers, C2H2-type, -	16366	protein-coding gene	gene with protein product					NA		Standard		NM_052882	NA	Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.1409A>C	19.37:g.57646296T>G	ENSP00000269834:p.His470Pro	NA	Q14CA6	37	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	T	12.90	2.075839	0.36662	.	.	ENSG00000141946	ENST00000269834	T	0.10005	2.92	2.27	1.19	0.21007	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26629	0.0651	H	0.94542	3.55	0.26154	N	0.980096	P	0.46020	0.871	P	0.47891	0.56	T	0.15235	-1.0444	9	0.87932	D	0	.	5.3816	0.16194	0.0:0.0:0.2927:0.7073	.	470	Q96PE6	ZIM3_HUMAN	P	470	ENSP00000269834:H470P	ENSP00000269834:H470P	H	-	2	0	ZIM3	62338108	0.999000	0.42202	0.109000	0.21407	0.405000	0.30901	1.731000	0.38135	0.268000	0.21939	0.260000	0.18958	CAC	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465078.1		-	ENST00000269834.1	Missense_Mutation	SNP	19 : 57646296 - 57646296 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	419	15
NLRP5	126206	broad.mit.edu	37	19	56539009	56539009	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56539009G>A	ENST00000390649.3	+	7	1410	c.1410G>A	c.(1408-1410)gtG>gtA	p.V470V		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	470	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AGTGCCAGGTGCCCGCCGTGG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	36	34			NA	NA	19		NA											NA				56539009		2121	4236	6357	SO:0001819	synonymous_variant			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487	126206	126206		Nucleotide-binding domain and leucine rich repeat containing	21269	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5	609658	NACHT, leucine rich repeat and PYD containing 5	NALP5	NA	12563287, 11925379	Standard	NM_153447	NM_153447	NA	Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1410G>A	19.37:g.56539009G>A		NA	A8MTY4|Q86W29	37	CCDS12938.1																																																																																			NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313735.1		+	ENST00000390649.3	Silent	SNP	19 : 56539009 - 56539009 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	271	45
PHLPP2	23035	broad.mit.edu	37	16	71683709	71683709	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71683709C>T	ENST00000393524.2	-	17	3588	c.2855G>A	c.(2854-2856)aGc>aAc	p.S952N	PHLPP2_ENST00000568954.1_Missense_Mutation_p.S1019N|PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000356272.3_Missense_Mutation_p.S1019N|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000567016.1_Missense_Mutation_p.S1054N			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1019	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						ACAGCCATAGCTCTGCGCTAA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													226	209	215			NA	NA	16		NA											NA				71683709		2198	4300	6498	SO:0001583	missense			BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199	23035	23035		Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent, Pleckstrin homology (PH) domain containing	29149	protein-coding gene	gene with protein product		611066	PH domain and leucine rich repeat protein phosphatase-like	PHLPPL	NA	17386267	Standard	NM_015020	NM_001289003	NA	Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000393524.2:c.2855G>A	16.37:g.71683709C>T	ENSP00000377159:p.Ser952Asn	NA	A1L374|Q9NV17|Q9Y2E3	37		.	.	.	.	.	.	.	.	.	.	C	24.3	4.511836	0.85389	.	.	ENSG00000040199	ENST00000356272;ENST00000393524	T;T	0.17528	2.27;2.27	5.9	5.9	0.94986	Protein phosphatase 2C-like (4);	0.000000	0.85682	D	0.000000	T	0.42675	0.1213	M	0.62088	1.915	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.997;0.998	T	0.07673	-1.0760	10	0.59425	D	0.04	-19.9405	19.2671	0.93993	0.0:1.0:0.0:0.0	.	952;1019	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	N	1019;952	ENSP00000348611:S1019N;ENSP00000377159:S952N	ENSP00000348611:S1019N	S	-	2	0	PHLPP2	70241210	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.818000	0.86416	2.788000	0.95919	0.650000	0.86243	AGC	PHLPP2-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000434140.1		-	ENST00000393524.2	Missense_Mutation	SNP	16 : 71683709 - 71683709 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1034	209
DAB2	1601	broad.mit.edu	37	5	39381710	39381710	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:39381710G>A	ENST00000320816.6	-	11	1817	c.1350C>T	c.(1348-1350)gcC>gcT	p.A450A	DAB2_ENST00000545653.1_Silent_p.A429A|DAB2_ENST00000339788.6_Silent_p.A232A|DAB2_ENST00000509337.1_Silent_p.A429A	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	450					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GCAAGTCATTGGCTGAAGACT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	99	100			NA	NA	5		NA											NA				39381710		2203	4300	6503	SO:0001819	synonymous_variant			U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071	1601	1601			2662	protein-coding gene	gene with protein product		601236	disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein), disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)		NA	8660969, 9620555	Standard	NM_001343	NM_001343	NA	Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.1350C>T	5.37:g.39381710G>A		NA	A6NES5|Q13598|Q9BTY0|Q9UK04	37	CCDS34149.1																																																																																			DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367014.1		-	ENST00000320816.6	Silent	SNP	5 : 39381710 - 39381710 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	382	73
OC90	729330	broad.mit.edu	37	8	133053837	133053837	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133053837G>A	ENST00000262283.5	-	8	966	c.867C>T	c.(865-867)gaC>gaT	p.D289D	OC90_ENST00000603859.1_Silent_p.D93D|OC90_ENST00000443356.2_Silent_p.D93D|OC90_ENST00000254627.3_Silent_p.D93D			Q02509	OC90_HUMAN	otoconin 90	93					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			AGTCTTCAAAGTCTCGGGGGC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	49	49			NA	NA	8		NA											NA				133053837		1998	4164	6162	SO:0001819	synonymous_variant			Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117	729330	729330			8100	protein-coding gene	gene with protein product		601658		PLA2L	NA	10329003, 9860971	Standard	NM_001080399	NM_001080399	NA	Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000262283.5:c.867C>T	8.37:g.133053837G>A		NA	B4DNG8	37																																																																																				OC90-001	NOVEL	basic|readthrough_transcript	protein_coding	NA	protein_coding	OTTHUMT00000410190.1		-	ENST00000262283.5	Silent	SNP	8 : 133053837 - 133053837 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	252	50
DST	667	broad.mit.edu	37	6	56472399	56472399	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56472399G>A	ENST00000361203.3	-	36	6401	c.6394C>T	c.(6394-6396)Ctc>Ttc	p.L2132F	DST_ENST00000446842.2_Missense_Mutation_p.L1806F|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Missense_Mutation_p.L2132F|DST_ENST00000370754.5_Missense_Mutation_p.L2310F|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.L2132F|DST_ENST00000370788.2_Intron			Q03001	DYST_HUMAN	dystonin	2132					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATGATATGAGACTGGGAACA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	68	70			NA	NA	6		NA											NA				56472399		1880	4124	6004	SO:0001583	missense			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914	667	667		EF-hand domain containing	1090	protein-coding gene	gene with protein product		113810	bullous pemphigoid antigen 1, 230/240kDa	BPAG1	NA	2461961, 2276744	Standard	NM_001723	NM_001144770	NA	Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.6394C>T	6.37:g.56472399G>A	ENSP00000354508:p.Leu2132Phe	NA	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	37		.	.	.	.	.	.	.	.	.	.	G	10.03	1.238030	0.22711	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;T;T;T	0.80824	0.06;0.06;1.02;-1.42;0.05;-0.2	4.52	-0.0795	0.13710	.	0.798511	0.10832	N	0.629213	T	0.45115	0.1326	.	.	.	0.23336	N	0.997883	B	0.22604	0.072	B	0.12156	0.007	T	0.05599	-1.0875	8	0.35671	T	0.21	.	3.7409	0.08530	0.2912:0.4129:0.296:0.0	.	1806	Q03001-9	.	F	2310;2132;1806;2132;2132;1806	ENSP00000359790:L2310F;ENSP00000359805:L2132F;ENSP00000393645:L1806F;ENSP00000307959:L2132F;ENSP00000354508:L2132F;ENSP00000404924:L1806F	ENSP00000307959:L2132F	L	-	1	0	DST	56580358	0.000000	0.05858	0.001000	0.08648	0.037000	0.13140	-0.149000	0.10204	0.158000	0.19367	0.563000	0.77884	CTC	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000041021.3		-	ENST00000361203.3	Missense_Mutation	SNP	6 : 56472399 - 56472399 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	113	18
MORN3	283385	broad.mit.edu	37	12	122097217	122097217	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122097217G>A	ENST00000355329.3	-	2	353	c.183C>T	c.(181-183)atC>atT	p.I61I		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	61										breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CCCCCTCATAGATGGCTCCTT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	110	120			NA	NA	12		NA											NA				122097217		2203	4300	6503	SO:0001819	synonymous_variant			BC057760	CCDS31917.1	12q24.31	2006-01-17			ENSG00000139714	ENSG00000139714	283385	283385			29807	protein-coding gene	gene with protein product					NA		Standard	NM_173855	NM_173855	NA	Approved		uc001uax.3	Q6PF18	OTTHUMG00000169075	ENST00000355329.3:c.183C>T	12.37:g.122097217G>A		NA	Q86YQ9	37	CCDS31917.1																																																																																			MORN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402154.1		-	ENST00000355329.3	Silent	SNP	12 : 122097217 - 122097217 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	402	40
SYNE1	23345	broad.mit.edu	37	6	152652508	152652508	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152652508T>C	ENST00000367255.5	-	78	13913	c.13312A>G	c.(13312-13314)Agt>Ggt	p.S4438G	SYNE1_ENST00000423061.1_Missense_Mutation_p.S4367G|SYNE1_ENST00000341594.5_Missense_Mutation_p.S4303G|SYNE1_ENST00000448038.1_Missense_Mutation_p.S4367G|SYNE1_ENST00000265368.4_Missense_Mutation_p.S4438G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4438					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACTAAGTCACTGAGACAATTC	0.493		NA								HNSCC(10;0.0054)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	92	95			NA	NA	6		NA											NA				152652508		2203	4300	6503	SO:0001583	missense			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018	23345	23345			17089	protein-coding gene	gene with protein product	myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1	608441	chromosome 6 open reading frame 98	C6orf98	NA	9872452, 10878022	Standard	NM_182961	NM_182961	NA	Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.13312A>G	6.37:g.152652508T>C	ENSP00000356224:p.Ser4438Gly	NA	O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	10.65	1.409322	0.25378	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32	5.84	3.48	0.39840	.	0.334922	0.29355	N	0.012386	T	0.11623	0.0283	L	0.39633	1.23	0.80722	D	1	B;B;B;B	0.14805	0.011;0.003;0.003;0.005	B;B;B;B	0.15484	0.005;0.006;0.006;0.013	T	0.08289	-1.0729	10	0.15499	T	0.54	.	9.7803	0.40645	0.0:0.1377:0.0:0.8623	.	4438;4438;4438;4367	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	G	4438;4367;4438;4367;4303	ENSP00000356224:S4438G;ENSP00000396024:S4367G;ENSP00000265368:S4438G;ENSP00000390975:S4367G;ENSP00000341887:S4303G	ENSP00000265368:S4438G	S	-	1	0	SYNE1	152694201	1.000000	0.71417	0.946000	0.38457	0.970000	0.65996	3.524000	0.53495	0.490000	0.27771	0.533000	0.62120	AGT	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334755.2		-	ENST00000367255.5	Missense_Mutation	SNP	6 : 152652508 - 152652508 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	412	84
PKP1	5317	broad.mit.edu	37	1	201289433	201289433	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201289433G>A	ENST00000367324.3	+	7	1522	c.1271G>A	c.(1270-1272)cGt>cAt	p.R424H	PKP1_ENST00000352845.3_Missense_Mutation_p.R445H|PKP1_ENST00000263946.3_Missense_Mutation_p.R445H	NM_001005337.2	NP_001005337.1	Q13835	PKP1_HUMAN	plakophilin 1	445					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CAGACCATGCGTAACTACTCA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	74	62	66		1334,1271	4.8	1	1		66	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PKP1	NM_000299.3,NM_001005337.2	29,29	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging	445/748,424/727	201289433	1,13005	2203	4300	6503	SO:0001583	missense			X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277	5317	5317		Armadillo repeat containing	9023	protein-coding gene	gene with protein product	ectodermal dysplasia/skin fragility syndrome	601975	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)		NA	9272178	Standard	NM_000299	NM_001005337	NA	Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000367324.3:c.1271G>A	1.37:g.201289433G>A	ENSP00000356293:p.Arg424His	NA	O00645|Q14CA0|Q15152	37	CCDS30967.1	.	.	.	.	.	.	.	.	.	.	G	33	5.202281	0.94997	0.0	1.16E-4	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	T;T;T	0.81247	-1.47;-1.47;-1.47	4.81	4.81	0.61882	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.91116	0.7203	M	0.87900	2.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.92805	0.6259	10	0.87932	D	0	-19.6126	18.2321	0.89937	0.0:0.0:1.0:0.0	.	32;424;445	Q14BN3;Q13835-2;Q13835	.;.;PKP1_HUMAN	H	424;445;445	ENSP00000356293:R424H;ENSP00000263946:R445H;ENSP00000295597:R445H	ENSP00000263946:R445H	R	+	2	0	PKP1	199556056	1.000000	0.71417	0.962000	0.40283	0.964000	0.63967	8.915000	0.92740	2.375000	0.81037	0.591000	0.81541	CGT	PKP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086894.1		+	ENST00000367324.3	Missense_Mutation	SNP	1 : 201289433 - 201289433 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	260	23
SLC45A4	57210	broad.mit.edu	37	8	142228354	142228354	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142228354T>G	ENST00000519067.1	-	4	1535	c.1232A>C	c.(1231-1233)cAg>cCg	p.Q411P	SLC45A4_ENST00000024061.3_Missense_Mutation_p.Q411P|SLC45A4_ENST00000517878.1_Missense_Mutation_p.Q462P|SLC45A4_ENST00000433583.2_Missense_Mutation_p.Q404P			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	462					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CTGCCGCTTCTGCATGTCGTA	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	39	40			NA	NA	8		NA											NA				142228354		2203	4296	6499	SO:0001583	missense			AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22					57210	57210		Solute carriers	29196	protein-coding gene	gene with protein product					NA		Standard	XM_050325	NM_001080431	NA	Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000519067.1:c.1232A>C	8.37:g.142228354T>G	ENSP00000429059:p.Gln411Pro	NA	Q6ZRI2|Q9ULU3	37		.	.	.	.	.	.	.	.	.	.	T	16.62	3.173901	0.57692	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13	5.37	5.37	0.77165	.	0.060918	0.64402	D	0.000003	D	0.89598	0.6761	L	0.49350	1.555	0.49798	D	0.999829	B;B;B	0.20368	0.044;0.015;0.034	B;B;B	0.18871	0.01;0.023;0.023	D	0.86337	0.1702	10	0.41790	T	0.15	-42.0846	15.378	0.74630	0.0:0.0:0.0:1.0	.	462;411;411	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	P	411;462;404;411	ENSP00000429059:Q411P;ENSP00000428137:Q462P;ENSP00000400799:Q404P;ENSP00000024061:Q411P	ENSP00000024061:Q411P	Q	-	2	0	SLC45A4	142297536	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.538000	0.67193	2.051000	0.60960	0.459000	0.35465	CAG	SLC45A4-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000378932.2		-	ENST00000519067.1	Missense_Mutation	SNP	8 : 142228354 - 142228354 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	333	59
GNAS	2778	broad.mit.edu	37	20	57415547	57415547	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57415547C>A	ENST00000313949.7	+	1	775	c.386C>A	c.(385-387)cCt>cAt	p.P129H	GNAS_ENST00000371075.3_Missense_Mutation_p.P129H|GNAS_ENST00000371098.2_Missense_Mutation_p.P129H|GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000424094.2_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	144					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GAGACCGAGCCTGAGACCGCC	0.647		NA	Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism, type IA			TSP Lung(22;0.16)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(117;935 1597 6045 8307 46442)		Dom	yes		20	20q13.2	2778	guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1	yes	E	0													91	83	86			NA	NA	20		NA											NA				57415547		2203	4300	6503	SO:0001583	missense			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460	2778	2778			4392	protein-coding gene	gene with protein product	secretogranin VI	139320	guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1	GNAS1	NA		Standard	NM_000516	NM_000516	NA	Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000313949.7:c.386C>A	20.37:g.57415547C>A	ENSP00000323571:p.Pro129His	NA	E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	37	CCDS13471.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.131731	0.37630	.	.	ENSG00000087460	ENST00000313949;ENST00000371098;ENST00000371075;ENST00000453292	.	.	.	4.99	4.05	0.47172	.	.	.	.	.	T	0.28366	0.0701	N	0.14661	0.345	0.26043	N	0.981589	P	0.51449	0.945	P	0.48488	0.579	T	0.05162	-1.0902	8	0.42905	T	0.14	.	9.589	0.39534	0.0:0.9016:0.0:0.0984	.	129	O95467	GNAS3_HUMAN	H	129;129;129;50	.	ENSP00000323571:P129H	P	+	2	0	GNAS	56848942	0.015000	0.18098	0.542000	0.28115	0.964000	0.63967	2.125000	0.42016	1.248000	0.43934	0.585000	0.79938	CCT	GNAS-002	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080418.7		+	ENST00000313949.7	Missense_Mutation	SNP	20 : 57415547 - 57415547 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	677	116
HMCN1	83872	broad.mit.edu	37	1	186034555	186034555	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186034555G>A	ENST00000271588.4	+	49	7928	c.7699G>A	c.(7699-7701)Gta>Ata	p.V2567I	HMCN1_ENST00000367492.2_Missense_Mutation_p.V2567I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2567					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						CAGTCTTAATGTATTTGGTAG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	61	62			NA	NA	1		NA											NA				186034555		2203	4300	6503	SO:0001583	missense			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.7699G>A	1.37:g.186034555G>A	ENSP00000271588:p.Val2567Ile	NA	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369318	0.82463	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.74209	-0.82;-0.82	5.55	5.55	0.83447	Immunoglobulin I-set (1);	0.000000	0.85682	D	0.000000	D	0.83714	0.5314	L	0.51914	1.62	0.80722	D	1	D	0.56035	0.974	D	0.73380	0.98	T	0.83154	-0.0102	10	0.49607	T	0.09	.	19.4973	0.95079	0.0:0.0:1.0:0.0	.	2567	Q96RW7	HMCN1_HUMAN	I	2567	ENSP00000271588:V2567I;ENSP00000356462:V2567I	ENSP00000271588:V2567I	V	+	1	0	HMCN1	184301178	1.000000	0.71417	0.998000	0.56505	0.395000	0.30598	7.609000	0.82925	2.597000	0.87782	0.655000	0.94253	GTA	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131848.1		+	ENST00000271588.4	Missense_Mutation	SNP	1 : 186034555 - 186034555 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	155	19
MARS2	92935	broad.mit.edu	37	2	198570573	198570573	+	Silent	SNP	G	G	A	rs138238210		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198570573G>A	ENST00000282276.6	+	1	487	c.444G>A	c.(442-444)caG>caA	p.Q148Q	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	148					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TGGCTGTGCAGCACTTCTGGG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	44	42			NA	NA	2		NA											NA				198570573		2203	4300	6503	SO:0001819	synonymous_variant			BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	92935	92935	6.1.1.10	Aminoacyl tRNA synthetases / Class I	25133	protein-coding gene	gene with protein product	methionine tRNA ligase 2, mitochondrial	609728			NA	15274629	Standard	NM_138395	NM_138395	NA	Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.444G>A	2.37:g.198570573G>A		NA	A0AVC3|Q76E79|Q8IW62|Q8N7N4	37	CCDS33358.1																																																																																			MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335477.1		+	ENST00000282276.6	Silent	SNP	2 : 198570573 - 198570573 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	374	145
C3orf17	25871	broad.mit.edu	37	3	112736400	112736400	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112736400C>T	ENST00000314400.5	-	2	347	c.156G>A	c.(154-156)tcG>tcA	p.S52S	C3orf17_ENST00000383675.2_Silent_p.S52S|C3orf17_ENST00000393857.2_Intron	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	52						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						GGCTCTTCAGCGACAGTATGA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													183	161	169			NA	NA	3		NA											NA				112736400		2203	4300	6503	SO:0001819	synonymous_variant			AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608	25871	25871			24496	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_015412	NR_027794	NA	Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.156G>A	3.37:g.112736400C>T		NA	D3DN69|Q68DM6|Q9H7U0|Q9UFM4	37	CCDS33824.1																																																																																			C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354405.3		-	ENST00000314400.5	Silent	SNP	3 : 112736400 - 112736400 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	769	132
COL2A1	1280	broad.mit.edu	37	12	48391959	48391959	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48391959A>G	ENST00000380518.3	-	4	499	c.335T>C	c.(334-336)aTc>aCc	p.I112T	COL2A1_ENST00000337299.6_Missense_Mutation_p.I43T	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	112					axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TACATCCTTGATGTCTCCAGG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	154	156			NA	NA	12		NA											NA				48391959		2203	4300	6503	SO:0001583	missense			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219	1280	1280		Collagens	2200	protein-coding gene	gene with protein product		120140	collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital), arthroophthalmopathy, progressive (Stickler syndrome)	SEDC, AOM	NA	1677770	Standard	NM_001844	NM_033150	NA	Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.335T>C	12.37:g.48391959A>G	ENSP00000369889:p.Ile112Thr	NA	A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	37	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.153460	0.57259	.	.	ENSG00000139219	ENST00000380518;ENST00000337299	D;D	0.93366	-3.21;-3.21	5.04	5.04	0.67666	.	.	.	.	.	D	0.86867	0.6036	N	0.25286	0.73	0.54753	D	0.999985	P;B	0.36535	0.557;0.421	B;B	0.28305	0.088;0.059	D	0.88114	0.2827	9	0.72032	D	0.01	.	14.0685	0.64847	1.0:0.0:0.0:0.0	.	43;112	P02458-1;P02458	.;CO2A1_HUMAN	T	112;43	ENSP00000369889:I112T;ENSP00000338213:I43T	ENSP00000338213:I43T	I	-	2	0	COL2A1	46678226	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.801000	0.91905	2.047000	0.60756	0.454000	0.30748	ATC	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313810.2		-	ENST00000380518.3	Missense_Mutation	SNP	12 : 48391959 - 48391959 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	460	93
CNTNAP3	79937	broad.mit.edu	37	9	39149958	39149958	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:39149958G>A	ENST00000297668.6	-	10	1567	c.1494C>T	c.(1492-1494)agC>agT	p.S498S	CNTNAP3_ENST00000377656.2_Silent_p.S498S|CNTNAP3_ENST00000377659.1_Silent_p.S498S|CNTNAP3_ENST00000358144.2_Silent_p.S410S|CNTNAP3_ENST00000323947.7_Intron	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	498	Laminin G-like 2.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CAGAGCCAGAGCTGTTGTCCA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	26	25			NA	NA	9		NA											NA				39149958		2202	4298	6500	SO:0001819	synonymous_variant			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714	79937	79937			13834	protein-coding gene	gene with protein product	cell recognition molecule CASPR3 (FLJ14195, KIAA1714)	610517			NA	12093160	Standard	NM_033655	NM_033655	NA	Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1494C>T	9.37:g.39149958G>A		NA	B1AMA0|Q9C0E9	37	CCDS6616.1																																																																																			CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052511.1		-	ENST00000297668.6	Silent	SNP	9 : 39149958 - 39149958 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	168	28
PMEPA1	56937	broad.mit.edu	37	20	56227318	56227318	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:56227318A>T	ENST00000341744.3	-	4	974	c.655T>A	c.(655-657)Tac>Aac	p.Y219N	PMEPA1_ENST00000347215.4_Missense_Mutation_p.Y184N|PMEPA1_ENST00000395814.1_Missense_Mutation_p.Y169N|PMEPA1_ENST00000265626.4_Missense_Mutation_p.Y169N|PMEPA1_ENST00000395816.3_Missense_Mutation_p.Y169N	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	219					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						CCGCTGCCGTAGCACGTGGCG	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	24	23			NA	NA	20		NA											NA				56227318		2199	4296	6495	SO:0001583	missense			AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225	56937	56937			14107	protein-coding gene	gene with protein product	solid tumor-associated 1	606564	transmembrane, prostate androgen induced RNA	TMEPAI	NA	10873380	Standard	NM_020182	NM_020182	NA	Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.655T>A	20.37:g.56227318A>T	ENSP00000345826:p.Tyr219Asn	NA	Q5TDR6|Q96B72|Q9UJD3	37	CCDS13463.1	.	.	.	.	.	.	.	.	.	.	A	18.50	3.636707	0.67130	.	.	ENSG00000124225	ENST00000341744;ENST00000347215;ENST00000395816;ENST00000265626;ENST00000395814;ENST00000414037	T;T;T;T;T;T	0.44881	0.91;0.92;0.92;0.92;0.92;0.94	5.53	5.53	0.82687	.	0.073958	0.56097	D	0.000029	T	0.59074	0.2167	M	0.64997	1.995	0.58432	D	0.999995	D;D	0.67145	0.992;0.996	P;D	0.64237	0.826;0.923	T	0.56920	-0.7899	10	0.33940	T	0.23	-37.163	15.6511	0.77095	1.0:0.0:0.0:0.0	.	184;219	Q5JY37;Q969W9	.;PMEPA_HUMAN	N	219;184;169;169;169;191	ENSP00000345826:Y219N;ENSP00000344014:Y184N;ENSP00000379161:Y169N;ENSP00000265626:Y169N;ENSP00000379159:Y169N;ENSP00000401506:Y191N	ENSP00000265626:Y169N	Y	-	1	0	PMEPA1	55660724	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.663000	0.91134	2.093000	0.63338	0.528000	0.53228	TAC	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079858.2		-	ENST00000341744.3	Missense_Mutation	SNP	20 : 56227318 - 56227318 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	238	52
CYB5R1	51706	broad.mit.edu	37	1	202934626	202934626	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202934626G>T	ENST00000367249.4	-	5	422	c.348C>A	c.(346-348)gtC>gtA	p.V116V		NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	116	FAD-binding FR-type.				sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)			CCTTCAGGTAGACCTTACAAG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	105	107			NA	NA	1		NA											NA				202934626		2203	4300	6503	SO:0001819	synonymous_variant			AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	51706	51706	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	NAD(P)H:quinone oxidoreductase type 3, polypeptide A2	NQO3A2	NA	12975309, 10611283	Standard	NM_016243	NM_016243	NA	Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.348C>A	1.37:g.202934626G>T		NA	A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	37	CCDS1431.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823595	0.32237	.	.	ENSG00000159348	ENST00000446185	.	.	.	5.93	-0.626	0.11544	.	.	.	.	.	T	0.55033	0.1895	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46541	-0.9184	4	.	.	.	-5.3569	9.1318	0.36850	0.1388:0.4715:0.3897:0.0	.	.	.	.	Y	48	.	.	S	-	2	0	CYB5R1	201201249	0.985000	0.35326	0.968000	0.41197	0.867000	0.49689	0.224000	0.17738	-0.365000	0.08076	0.591000	0.81541	TCT	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000099155.1		-	ENST00000367249.4	Silent	SNP	1 : 202934626 - 202934626 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	747	63
LCTL	197021	broad.mit.edu	37	15	66857032	66857032	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66857032G>A	ENST00000341509.5	-	2	395	c.264C>T	c.(262-264)gaC>gaT	p.D88D	LCTL_ENST00000563438.1_5'UTR|LCTL_ENST00000537670.1_Intron	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	88					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.D88D(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGTAGTAGCCGTCACAGGCTA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											192	125	148			NA	NA	15		NA											NA				66857032		2201	4299	6500	SO:0001819	synonymous_variant			AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501	197021	197021			15583	protein-coding gene	gene with protein product	klotho gamma, KL lactase phlorizin hydrolase				NA	12084582	Standard	NM_207338	NM_207338	NA	Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.264C>T	15.37:g.66857032G>A		NA		37	CCDS10220.1																																																																																			LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256921.2		-	ENST00000341509.5	Silent	SNP	15 : 66857032 - 66857032 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	387	81
FAM178A	55719	broad.mit.edu	37	10	102684141	102684141	+	Silent	SNP	C	C	T	rs141433125		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102684141C>T	ENST00000238961.4	+	5	1925	c.1383C>T	c.(1381-1383)acC>acT	p.T461T	FAM178A_ENST00000370271.3_Silent_p.T461T|FAM178A_ENST00000370269.3_Silent_p.T461T	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	NA											NA						AAAATAAAACCGCTAGCTCCA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	92	88			NA	NA	10		NA											NA				102684141		2203	4300	6503	SO:0001819	synonymous_variant			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906	NA	55719			17814	protein-coding gene	gene with protein product		610348	chromosome 10 open reading frame 6	C10orf6	NA	12459258	Standard		NM_018121	NA	Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.1383C>T	10.37:g.102684141C>T		NA	A8K950|Q5W0L8|Q9NPE8	37	CCDS7500.1																																																																																			FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049897.3		+	ENST00000238961.4	Silent	SNP	10 : 102684141 - 102684141 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	796	144
CAD	790	broad.mit.edu	37	2	27454442	27454442	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27454442C>T	ENST00000403525.1	+	15	2349	c.2205C>T	c.(2203-2205)agC>agT	p.S735S	CAD_ENST00000264705.4_Silent_p.S798S|CAD_ENST00000464159.1_3'UTR			P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	798	CPSase (Carbamoyl-phosphate synthase).|CPSase A.		Y -> C (in a colorectal cancer sample; somatic mutation).		'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AACCAGTCAGCGATATGGTAA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	101	108			NA	NA	2		NA											NA				27454442		2203	4300	6503	SO:0001819	synonymous_variant			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	790	790	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010			NA	8619816, 2565865	Standard		NM_004341	NA	Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.2205C>T	2.37:g.27454442C>T		NA	D6W552|Q6P0Q0	37																																																																																				CAD-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000324970.1		+	ENST00000403525.1	Silent	SNP	2 : 27454442 - 27454442 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	189	35
OR11L1	391189	broad.mit.edu	37	1	248004962	248004962	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248004962G>T	ENST00000355784.2	-	1	292	c.237C>A	c.(235-237)ccC>ccA	p.P79P		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTAGGAGAAGGGGCACAGTGG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	63	67			NA	NA	1		NA											NA				248004962		2203	4300	6503	SO:0001819	synonymous_variant			AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591	391189	391189		GPCR / Class A : Olfactory receptors	14998	protein-coding gene	gene with protein product					NA		Standard	NM_001001959	NM_001001959	NA	Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.237C>A	1.37:g.248004962G>T		NA		37	CCDS31098.1																																																																																			OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096850.1		-	ENST00000355784.2	Silent	SNP	1 : 248004962 - 248004962 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	195	50
CYFIP2	26999	broad.mit.edu	37	5	156746871	156746871	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156746871C>T	ENST00000521420.1	+	13	1471	c.1380C>T	c.(1378-1380)ttC>ttT	p.F460F	CYFIP2_ENST00000435847.2_Silent_p.F160F|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000318218.6_Silent_p.F486F|CYFIP2_ENST00000541131.1_Silent_p.F411F|CYFIP2_ENST00000347377.6_Silent_p.F486F|CYFIP2_ENST00000377576.3_Silent_p.F486F|CYFIP2_ENST00000522463.1_Silent_p.F290F			Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	486					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCAGGACTTCGCCCAGGTGA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	148	147			NA	NA	5		NA											NA				156746871		2203	4300	6503	SO:0001819	synonymous_variant			AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163	26999	26999			13760	protein-coding gene	gene with protein product	p53 inducible protein	606323			NA	11438699	Standard	NM_001037332	NM_001037333	NA	Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1380C>T	5.37:g.156746871C>T		NA	A6NLT2|D3DQJ3|Q53EN5|Q9NTK4|Q9ULQ2|Q9UN29	37																																																																																				CYFIP2-001	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000373710.1		+	ENST00000521420.1	Silent	SNP	5 : 156746871 - 156746871 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	834	130
TNRC6C	57690	broad.mit.edu	37	17	76083142	76083142	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76083142C>A	ENST00000588847.1	+	15	4488	c.3761C>A	c.(3760-3762)tCt>tAt	p.S1254Y	TNRC6C_ENST00000335749.4_Missense_Mutation_p.S1254Y|TNRC6C_ENST00000588061.1_Missense_Mutation_p.S1257Y|TNRC6C_ENST00000301624.4_Missense_Mutation_p.S1257Y|TNRC6C_ENST00000541771.1_Missense_Mutation_p.S1257Y|TNRC6C_ENST00000544502.1_Missense_Mutation_p.S1254Y			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1257					gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GAGCAGCAGTCTTCACCCAAC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	131	127			NA	NA	17		NA											NA				76083142		2140	4248	6388	SO:0001583	missense			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687	57690	57690		Trinucleotide (CAG) repeat containing	29318	protein-coding gene	gene with protein product		610741			NA		Standard	NM_018996	NM_018996	NA	Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588847.1:c.3761C>A	17.37:g.76083142C>A	ENSP00000467154:p.Ser1254Tyr	NA	Q86UE5|Q8N3D8|Q96MU9	37	CCDS45799.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774969	0.90108	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.16897	2.32;2.31;2.31;2.32	5.48	5.48	0.80851	.	0.177279	0.51477	D	0.000081	T	0.36413	0.0966	M	0.61703	1.905	0.80722	D	1	P;P	0.51057	0.892;0.941	P;P	0.56434	0.714;0.798	T	0.01776	-1.1276	10	0.45353	T	0.12	-3.2971	19.3435	0.94355	0.0:1.0:0.0:0.0	.	1254;1257	G3XAB8;Q9HCJ0	.;TNR6C_HUMAN	Y	1257;1254;1254;1257;1257;1254	ENSP00000336783:S1254Y;ENSP00000301624:S1257Y;ENSP00000440310:S1257Y;ENSP00000442421:S1254Y	ENSP00000301624:S1257Y	S	+	2	0	TNRC6C	73594737	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.604000	0.67626	2.563000	0.86464	0.655000	0.94253	TCT	TNRC6C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255891.4		+	ENST00000588847.1	Missense_Mutation	SNP	17 : 76083142 - 76083142 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	689	68
FOCAD	54914	broad.mit.edu	37	9	20981573	20981573	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:20981573C>A	ENST00000380249.1	+	40	4890	c.4526C>A	c.(4525-4527)gCt>gAt	p.A1509D	FOCAD_ENST00000338382.6_Missense_Mutation_p.A1509D|FOCAD_ENST00000605086.1_Missense_Mutation_p.A945D	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	1509						integral to membrane	binding				NA						TGCCCAAGTGCTTTACACGGT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	65	67			NA	NA	9		NA											NA				20981573		2203	4300	6503	SO:0001583	missense			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352	54914	54914			23377	protein-coding gene	gene with protein product		614606	KIAA1797	KIAA1797	NA	22427331	Standard	NM_017794	XM_006716794	NA	Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.4526C>A	9.37:g.20981573C>A	ENSP00000369599:p.Ala1509Asp	NA	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	37	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890857	0.52014	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.25749	1.78;1.78	5.44	4.52	0.55395	.	0.416960	0.26948	N	0.021696	T	0.22244	0.0536	L	0.51422	1.61	0.30640	N	0.756548	P	0.38335	0.627	B	0.37650	0.255	T	0.20907	-1.0261	10	0.62326	D	0.03	-17.3935	6.6019	0.22705	0.0:0.7455:0.0:0.2545	.	1509	Q5VW36	K1797_HUMAN	D	1509	ENSP00000369599:A1509D;ENSP00000344307:A1509D	ENSP00000344307:A1509D	A	+	2	0	KIAA1797	20971573	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	3.386000	0.52492	2.832000	0.97577	0.655000	0.94253	GCT	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000143442.1		+	ENST00000380249.1	Missense_Mutation	SNP	9 : 20981573 - 20981573 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	56
THEG	51298	broad.mit.edu	37	19	371285	371285	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:371285C>T	ENST00000342640.4	-	6	715	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	THEG_ENST00000346878.2_Missense_Mutation_p.E201K	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	225					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCTGTATTCCAGGGAGGAC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	117	116			NA	NA	19		NA											NA				371285		2203	4300	6503	SO:0001583	missense			AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549	51298	51298			13706	protein-coding gene	gene with protein product	cancer/testis antigen 56	609503	Theg homolog (mouse)		NA	11173852	Standard		NM_016585	NA	Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.673G>A	19.37:g.371285C>T	ENSP00000340088:p.Glu225Lys	NA	A6NMJ8	37	CCDS12025.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.546472	0.45383	.	.	ENSG00000105549	ENST00000342640;ENST00000346878	T;T	0.24538	1.85;1.85	4.11	3.01	0.34805	.	10.291900	0.00166	N	0.000000	T	0.28928	0.0718	L	0.27053	0.805	0.09310	N	1	P;P	0.49559	0.827;0.925	P;P	0.49597	0.52;0.616	T	0.27806	-1.0063	10	0.23891	T	0.37	-21.2135	9.5418	0.39257	0.0:0.7843:0.2157:0.0	.	201;225	Q9P2T0-2;Q9P2T0	.;THEG_HUMAN	K	225;201	ENSP00000340088:E225K;ENSP00000264820:E201K	ENSP00000340088:E225K	E	-	1	0	THEG	322285	0.167000	0.22975	0.013000	0.15412	0.044000	0.14063	1.548000	0.36201	1.002000	0.39104	0.655000	0.94253	GAA	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384431.2		-	ENST00000342640.4	Missense_Mutation	SNP	19 : 371285 - 371285 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	985	238
ACSM3	6296	broad.mit.edu	37	16	20787326	20787326	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20787326A>G	ENST00000289416.5	+	3	860	c.385A>G	c.(385-387)Agg>Ggg	p.R129G	ACSM3_ENST00000440284.2_Missense_Mutation_p.R129G|ACSM3_ENST00000450120.2_Missense_Mutation_p.R84G	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	129					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						GATTCTGCCCAGGGTCCCAGA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	88	87			NA	NA	16		NA											NA				20787326		2201	4300	6501	SO:0001583	missense			D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187	6296	6296		Acyl-CoA synthetase family	10522	protein-coding gene	gene with protein product		145505	SA (rat hypertension-associated) homolog, SA hypertension-associated homolog (rat)	SAH	NA	7843754, 7907320, 11470804	Standard	NM_005622	NM_005622	NA	Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.385A>G	16.37:g.20787326A>G	ENSP00000289416:p.Arg129Gly	NA	O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	37	CCDS10589.1	.	.	.	.	.	.	.	.	.	.	A	19.81	3.895802	0.72639	.	.	ENSG00000005187	ENST00000289416;ENST00000440284;ENST00000450120	T;T;T	0.52526	0.66;0.66;0.66	5.81	2.05	0.26809	AMP-dependent synthetase/ligase (1);	0.303746	0.33732	N	0.004619	T	0.65101	0.2659	M	0.89353	3.025	0.34674	D	0.724058	P;D;D	0.63880	0.675;0.99;0.993	P;P;P	0.60117	0.672;0.869;0.864	T	0.75519	-0.3289	10	0.72032	D	0.01	-10.5388	8.1248	0.30992	0.3688:0.5437:0.0876:0.0	.	84;129;129	E7ETR5;Q53FZ2;Q53FZ2-2	.;ACSM3_HUMAN;.	G	129;129;84	ENSP00000289416:R129G;ENSP00000394565:R129G;ENSP00000395297:R84G	ENSP00000289416:R129G	R	+	1	2	ACSM3	20694827	0.843000	0.29541	1.000000	0.80357	0.869000	0.49853	0.962000	0.29280	1.004000	0.39156	0.383000	0.25322	AGG	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254414.2		+	ENST00000289416.5	Missense_Mutation	SNP	16 : 20787326 - 20787326 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	476	99
KIF15	56992	broad.mit.edu	37	3	44872399	44872399	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44872399C>A	ENST00000326047.4	+	26	3209	c.3060C>A	c.(3058-3060)aaC>aaA	p.N1020K	KIF15_ENST00000425755.1_Missense_Mutation_p.N655K	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1020					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GCAAATACAACTCTGCTTTGG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	106	107			NA	NA	3		NA											NA				44872399		2203	4300	6503	SO:0001583	missense			AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808	56992	56992		Kinesins	17273	protein-coding gene	gene with protein product			kinesin-like 7	KNSL7	NA	10878014	Standard		NM_020242	NA	Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.3060C>A	3.37:g.44872399C>A	ENSP00000324020:p.Asn1020Lys	NA	Q17RV9|Q69YL6|Q96JX7|Q9H280	37	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714539	0.48622	.	.	ENSG00000163808	ENST00000326047;ENST00000396031;ENST00000425755	T;T	0.41065	1.01;1.01	6.06	2.31	0.28768	.	0.222711	0.30791	N	0.008861	T	0.34366	0.0895	M	0.62723	1.935	0.29249	N	0.872134	P	0.42078	0.77	B	0.38803	0.282	T	0.20974	-1.0259	10	0.26408	T	0.33	.	7.2452	0.26117	0.0:0.4867:0.0:0.5133	.	1020	Q9NS87	KIF15_HUMAN	K	1020;1019;655	ENSP00000324020:N1020K;ENSP00000389982:N655K	ENSP00000324020:N1020K	N	+	3	2	KIF15	44847403	0.018000	0.18449	0.989000	0.46669	0.997000	0.91878	0.340000	0.19892	0.442000	0.26555	0.655000	0.94253	AAC	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343831.2		+	ENST00000326047.4	Missense_Mutation	SNP	3 : 44872399 - 44872399 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	505	104
MYNN	55892	broad.mit.edu	37	3	169496762	169496762	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169496762T>C	ENST00000349841.5	+	3	1136	c.473T>C	c.(472-474)gTa>gCa	p.V158A	RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000544106.1_Missense_Mutation_p.V158A|MYNN_ENST00000392733.1_Missense_Mutation_p.V158A|MYNN_ENST00000356716.4_Missense_Mutation_p.V158A	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	158						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			AAATCAGAAGTATCTACAGAT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	50	49			NA	NA	3		NA											NA				169496762		2203	4300	6503	SO:0001583	missense			AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274	55892	55892		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	14955	protein-coding gene	gene with protein product		606042			NA	10873615	Standard	NM_018657	NM_001185118	NA	Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.473T>C	3.37:g.169496762T>C	ENSP00000326240:p.Val158Ala	NA	Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	37	CCDS3207.1	.	.	.	.	.	.	.	.	.	.	T	1.054	-0.674914	0.03378	.	.	ENSG00000085274	ENST00000356716;ENST00000349841;ENST00000392733;ENST00000544106	T;T;T;T	0.09163	3.19;3.19;3.01;3.01	5.35	-1.78	0.07957	.	0.717193	0.13188	N	0.407007	T	0.02807	0.0084	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.42716	-0.9435	10	0.09338	T	0.73	.	1.5239	0.02521	0.1183:0.2205:0.2597:0.4016	.	158;158	Q9NPC7-2;Q9NPC7	.;MYNN_HUMAN	A	158	ENSP00000349150:V158A;ENSP00000326240:V158A;ENSP00000376492:V158A;ENSP00000440637:V158A	ENSP00000326240:V158A	V	+	2	0	MYNN	170979456	0.035000	0.19736	0.322000	0.25334	0.931000	0.56810	0.174000	0.16743	-0.229000	0.09854	0.528000	0.53228	GTA	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000467801.1		+	ENST00000349841.5	Missense_Mutation	SNP	3 : 169496762 - 169496762 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	208	9
SCN7A	6332	broad.mit.edu	37	2	167262858	167262858	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167262858A>C	ENST00000409855.1	-	25	4407	c.4281T>G	c.(4279-4281)ctT>ctG	p.L1427L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1427					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CAACTTGAAAAAGACAGAGCA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													182	174	177			NA	NA	2		NA											NA				167262858		1891	4141	6032	SO:0001819	synonymous_variant			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546	6332	6332		Sodium channels, Voltage-gated ion channels / Sodium channels	10594	protein-coding gene	gene with protein product		182392	sodium channel, voltage-gated, type VI, alpha, sodium channel, voltage-gated, type VII, alpha	SCN6A	NA	10198179	Standard		NM_002976	NA	Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4281T>G	2.37:g.167262858A>C		NA		37	CCDS46442.1																																																																																			SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333745.1		-	ENST00000409855.1	Silent	SNP	2 : 167262858 - 167262858 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1009	153
NEB	4703	broad.mit.edu	37	2	152512810	152512810	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152512810C>T	ENST00000603639.1	-	47	6351	c.6352G>A	c.(6352-6354)Gac>Aac	p.D2118N	NEB_ENST00000172853.10_Missense_Mutation_p.D2118N|NEB_ENST00000397345.3_Missense_Mutation_p.D2118N|NEB_ENST00000427231.2_Missense_Mutation_p.D2118N|NEB_ENST00000604864.1_Missense_Mutation_p.D2118N|NEB_ENST00000409198.1_Missense_Mutation_p.D2118N			P20929	NEBU_HUMAN	nebulin	2118					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGAGCATGTCGGCAGGGGTG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													262	262	262			NA	NA	2		NA											NA				152512810		2100	4240	6340	SO:0001583	missense			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091	4703	4703			7720	protein-coding gene	gene with protein product	nemaline myopathy type 2	161650		NEM2	NA	10051637, 9359044	Standard	NM_004543	NM_001164507	NA	Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000603639.1:c.6352G>A	2.37:g.152512810C>T	ENSP00000473894:p.Asp2118Asn	NA	Q15346|Q53QQ2|Q53TG8	37	CCDS54407.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.167562	0.57476	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.82	4.04	0.47022	.	0.048902	0.85682	N	0.000000	T	0.48892	0.1525	M	0.80183	2.485	0.80722	D	1	B	0.22003	0.063	B	0.18561	0.022	T	0.49011	-0.8983	10	0.59425	D	0.04	.	9.7389	0.40406	0.0:0.7901:0.0:0.2099	.	2118	P20929	NEBU_HUMAN	N	2118	ENSP00000386259:D2118N;ENSP00000380505:D2118N;ENSP00000416578:D2118N;ENSP00000172853:D2118N	ENSP00000172853:D2118N	D	-	1	0	NEB	152221056	0.996000	0.38824	0.694000	0.30210	0.943000	0.58893	3.361000	0.52306	0.816000	0.34421	0.563000	0.77884	GAC	NEB-017	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000469059.2		-	ENST00000603639.1	Missense_Mutation	SNP	2 : 152512810 - 152512810 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1131	302
PAPOLB	56903	broad.mit.edu	37	7	4899539	4899539	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4899539G>T	ENST00000404991.1	-	1	2086	c.1900C>A	c.(1900-1902)Cta>Ata	p.L634I	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	634					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		TATAGGATTAGATATGTTTGT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	50	50			NA	NA	7		NA											NA				4899539		2017	4215	6232	SO:0001583	missense			AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	56903	56903	2.7.7.19		15970	protein-coding gene	gene with protein product		607436			NA	11150526	Standard	NM_020144	NM_020144	NA	Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.1900C>A	7.37:g.4899539G>T	ENSP00000384700:p.Leu634Ile	NA	Q75LH1|Q8NE14	37		.	.	.	.	.	.	.	.	.	.	G	9.764	1.170825	0.21621	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.27	3.39	0.38822	.	.	.	.	.	T	0.24547	0.0595	N	0.04508	-0.205	0.18873	N	0.999988	B	0.23891	0.093	B	0.29785	0.107	T	0.26292	-1.0107	8	0.54805	T	0.06	.	10.481	0.44693	0.0964:0.0:0.9036:0.0	.	635	A4D1Z6	.	I	634	.	ENSP00000384700:L634I	L	-	1	2	PAPOLB	4866065	1.000000	0.71417	0.455000	0.27031	0.770000	0.43624	5.330000	0.65899	1.398000	0.46701	0.591000	0.81541	CTA	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000323797.1		-	ENST00000404991.1	Missense_Mutation	SNP	7 : 4899539 - 4899539 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	164	30
TAS1R2	80834	broad.mit.edu	37	1	19175848	19175848	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19175848G>A	ENST00000375371.3	-	4	1475	c.1454C>T	c.(1453-1455)aCc>aTc	p.T485I	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	485					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GTTGTTGATGGTGTGCCAGGA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	72	75			NA	NA	1		NA											NA				19175848		2203	4300	6503	SO:0001583	missense				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002	80834	80834		Taste receptors / Type 1, GPCR / Unclassified : Taste receptors	14905	protein-coding gene	gene with protein product		606226	G protein-coupled receptor 71	GPR71	NA		Standard		NM_152232	NA	Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1454C>T	1.37:g.19175848G>A	ENSP00000364520:p.Thr485Ile	NA	Q5TZ19	37	CCDS187.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.463389	0.26248	.	.	ENSG00000179002	ENST00000375371	D	0.89746	-2.56	4.4	2.5	0.30297	.	0.000000	0.48767	D	0.000173	D	0.87366	0.6159	N	0.19112	0.55	0.22911	N	0.998575	D	0.89917	1.0	D	0.76575	0.988	T	0.77509	-0.2561	10	0.45353	T	0.12	.	7.1144	0.25409	0.0:0.1891:0.6151:0.1958	.	485	Q8TE23	TS1R2_HUMAN	I	485	ENSP00000364520:T485I	ENSP00000364520:T485I	T	-	2	0	TAS1R2	19048435	1.000000	0.71417	0.603000	0.28903	0.230000	0.25150	3.622000	0.54217	0.478000	0.27488	0.561000	0.74099	ACC	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006953.1		-	ENST00000375371.3	Missense_Mutation	SNP	1 : 19175848 - 19175848 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	22
TTN	7273	broad.mit.edu	37	2	179456819	179456819	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179456819C>T	ENST00000589042.1	-	302	60036	c.59812G>A	c.(59812-59814)Gct>Act	p.A19938T	TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A18297T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A10998T|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A10873T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A17370T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A11065T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18297	Fibronectin type-III 44.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGATGCTTAGCGAAGTGACTC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	79	79			NA	NA	2		NA											NA				179456819		1933	4139	6072	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.59812G>A	2.37:g.179456819C>T	ENSP00000467141:p.Ala19938Thr	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563683	0.45694	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	6.03	6.03	0.97812	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70046	0.3179	L	0.55017	1.72	0.58432	D	0.999994	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.67103	0.909;0.909;0.909;0.949	T	0.69734	-0.5065	9	0.87932	D	0	.	20.5753	0.99366	0.0:1.0:0.0:0.0	.	10873;10998;11065;18297	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	17370;10873;11065;10998;10871	ENSP00000343764:A17370T;ENSP00000434586:A10873T;ENSP00000340554:A11065T;ENSP00000352154:A10998T	ENSP00000340554:A11065T	A	-	1	0	TTN	179165065	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	4.059000	0.57470	2.868000	0.98415	0.557000	0.71058	GCT	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179456819 - 179456819 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	199	32
LARP4B	23185	broad.mit.edu	37	10	871234	871234	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:871234G>A	ENST00000316157.3	-	12	1295	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	419							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						ATCGCATGCCGCAGATGAGAT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	94	92			NA	NA	10		NA											NA				871234		2203	4300	6503	SO:0001583	missense			D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929	23185	23185		La ribonucleoprotein domain containing	28987	protein-coding gene	gene with protein product			KIAA0217, La ribonucleoprotein domain family, member 5	KIAA0217, LARP5	NA	9039502, 20573744	Standard	NM_015155	NM_015155	NA	Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1255C>T	10.37:g.871234G>A	ENSP00000326128:p.Arg419Trp	NA	Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	37	CCDS31131.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.901055	0.72754	.	.	ENSG00000107929	ENST00000316157	T	0.38240	1.15	5.57	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.53206	0.1782	L	0.47190	1.495	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56601	-0.7952	10	0.87932	D	0	-3.5475	14.4915	0.67654	0.0704:0.0:0.9296:0.0	.	419	Q92615	LAR4B_HUMAN	W	419	ENSP00000326128:R419W	ENSP00000326128:R419W	R	-	1	2	LARP4B	861234	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	4.115000	0.57865	1.379000	0.46325	0.655000	0.94253	CGG	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046395.2		-	ENST00000316157.3	Missense_Mutation	SNP	10 : 871234 - 871234 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	488	16
FLNC	2318	broad.mit.edu	37	7	128496609	128496609	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128496609C>T	ENST00000325888.8	+	44	7550	c.7289C>T	c.(7288-7290)gCc>gTc	p.A2430V	FLNC_ENST00000346177.6_Missense_Mutation_p.A2397V|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2430	Interaction with INPPL1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCGTCCTTTGCCGTGCAGCTG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	VAL/ALA,VAL/ALA	0,4218		0,0,2109	62	73	69		7190,7289	4.9	1	7		69	2,8406		0,2,4202	yes	missense,missense	FLNC	NM_001127487.1,NM_001458.4	64,64	0,2,6311	TT,TC,CC	NA	0.0238,0.0,0.0158	possibly-damaging,possibly-damaging	2397/2693,2430/2726	128496609	2,12624	2109	4204	6313	SO:0001583	missense			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591	2318	2318			3756	protein-coding gene	gene with protein product	actin binding protein 280	102565	filamin C, gamma (actin binding protein 280)	FLN2	NA	7689010, 8088838	Standard		NM_001458	NA	Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.7289C>T	7.37:g.128496609C>T	ENSP00000327145:p.Ala2430Val	NA	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	37	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.221215	0.39201	0.0	2.38E-4	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.84589	-1.87;-1.87	4.94	4.94	0.65067	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.116802	0.56097	D	0.000026	D	0.87633	0.6226	L	0.59912	1.85	0.47905	D	0.999546	P;P	0.46020	0.55;0.871	B;P	0.54431	0.412;0.752	D	0.84706	0.0731	10	0.21540	T	0.41	.	14.983	0.71324	0.143:0.857:0.0:0.0	.	2397;2430	Q14315-2;Q14315	.;FLNC_HUMAN	V	2430;2397	ENSP00000327145:A2430V;ENSP00000344002:A2397V	ENSP00000327145:A2430V	A	+	2	0	FLNC	128283845	0.998000	0.40836	0.969000	0.41365	0.152000	0.21847	4.005000	0.57075	2.432000	0.82394	0.557000	0.71058	GCC	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059948.3		+	ENST00000325888.8	Missense_Mutation	SNP	7 : 128496609 - 128496609 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	563	97
ASB15	142685	broad.mit.edu	37	7	123269055	123269055	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123269055C>T	ENST00000451558.1	+	12	1528	c.1007C>T	c.(1006-1008)aCt>aTt	p.T336I	ASB15_ENST00000451215.1_Missense_Mutation_p.T336I|ASB15_ENST00000434204.1_Missense_Mutation_p.T336I|ASB15_ENST00000540573.1_Missense_Mutation_p.T336I|ASB15_ENST00000275699.3_Missense_Mutation_p.T336I			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	336					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GATGTCAACACTCTACTTGCT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													184	168	173			NA	NA	7		NA											NA				123269055		2203	4300	6503	SO:0001583	missense			AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809	142685	142685		Ankyrin repeat domain containing	19767	protein-coding gene	gene with protein product			ankyrin repeat and SOCS box-containing 15		NA	12076535	Standard		XM_005250149	NA	Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1007C>T	7.37:g.123269055C>T	ENSP00000397655:p.Thr336Ile	NA	Q3ZCP3|Q3ZCP5|Q68D37	37	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	C	5.374	0.254323	0.10185	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000275699	T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39	6.17	1.25	0.21368	Ankyrin repeat-containing domain (4);	0.886714	0.09976	N	0.731572	T	0.05868	0.0153	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.37384	-0.9708	10	0.37606	T	0.19	-38.4327	2.7332	0.05233	0.1186:0.4693:0.2298:0.1823	.	336	Q8WXK1	ASB15_HUMAN	I	336;336;336;336;125;336	ENSP00000397655:T336I;ENSP00000390963:T336I;ENSP00000416433:T336I;ENSP00000438643:T336I;ENSP00000275699:T336I	ENSP00000275699:T336I	T	+	2	0	ASB15	123056291	0.000000	0.05858	0.000000	0.03702	0.711000	0.40976	0.211000	0.17474	-0.040000	0.13580	0.655000	0.94253	ACT	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347493.1		+	ENST00000451558.1	Missense_Mutation	SNP	7 : 123269055 - 123269055 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	563	91
DDX59	83479	broad.mit.edu	37	1	200628173	200628173	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200628173C>A	ENST00000447706.2	-	4	1195	c.1044G>T	c.(1042-1044)aaG>aaT	p.K348N	DDX59_ENST00000367348.3_Missense_Mutation_p.K348N|DDX59_ENST00000331314.6_Missense_Mutation_p.K348N			Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	348	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						CTACCACAATCTTTACACCAC	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	133	129			NA	NA	1		NA											NA				200628173		2203	4300	6503	SO:0001583	missense			BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197	83479	83479		Zinc fingers, HIT-type, DEAD-boxes	25360	protein-coding gene	gene with protein product		615464			NA		Standard	NM_001031725.4	NM_001031725	NA	Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000447706.2:c.1044G>T	1.37:g.200628173C>A	ENSP00000394367:p.Lys348Asn	NA	Q6PJL2|Q8IVW3|Q9H0W3	37		.	.	.	.	.	.	.	.	.	.	C	12.16	1.854626	0.32791	.	.	ENSG00000118197	ENST00000447706;ENST00000367348;ENST00000331314	T;T;T	0.47528	0.84;0.84;0.84	5.74	-0.954	0.10359	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.091215	0.85682	D	0.000000	T	0.54415	0.1857	L	0.49350	1.555	0.48395	D	0.999647	D;D	0.67145	0.996;0.992	D;P	0.63877	0.919;0.859	T	0.53012	-0.8498	10	0.54805	T	0.06	-22.3311	10.9624	0.47393	0.0:0.4521:0.0:0.5479	.	348;348	B7Z5N6;Q5T1V6	.;DDX59_HUMAN	N	348	ENSP00000394367:K348N;ENSP00000356317:K348N;ENSP00000330460:K348N	ENSP00000330460:K348N	K	-	3	2	DDX59	198894796	1.000000	0.71417	0.222000	0.23844	0.272000	0.26649	0.765000	0.26546	-0.171000	0.10797	-0.781000	0.03364	AAG	DDX59-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000086882.3		-	ENST00000447706.2	Missense_Mutation	SNP	1 : 200628173 - 200628173 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	681	99
PCDHB7	56129	broad.mit.edu	37	5	140554076	140554076	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140554076G>A	ENST00000231137.3	+	1	1834	c.1660G>A	c.(1660-1662)Gcc>Acc	p.A554T		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	554	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGCTGGACGCCAACGACAA	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212	56129	56129		Cadherins / Protocadherins : Clustered	8692	other	protocadherin		606333			NA	10380929	Standard	NM_018940	NM_018940	NA	Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1660G>A	5.37:g.140554076G>A	ENSP00000231137:p.Ala554Thr	NA		37	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	g	11.96	1.793689	0.31685	.	.	ENSG00000113212	ENST00000231137	T	0.03181	4.02	4.3	3.38	0.38709	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.02888	0.0086	N	0.12527	0.23	0.23661	N	0.997171	B	0.25850	0.136	B	0.21546	0.035	T	0.45220	-0.9276	9	0.40728	T	0.16	.	12.4687	0.55775	0.0:0.3241:0.6759:0.0	.	554	Q9Y5E2	PCDB7_HUMAN	T	554	ENSP00000231137:A554T	ENSP00000231137:A554T	A	+	1	0	PCDHB7	140534260	0.000000	0.05858	0.769000	0.31535	0.934000	0.57294	0.692000	0.25482	0.853000	0.35312	0.449000	0.29647	GCC	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251803.2		+	ENST00000231137.3	Missense_Mutation	SNP	5 : 140554076 - 140554076 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	663	111
YTHDC1	91746	broad.mit.edu	37	4	69184570	69184570	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69184570C>A	ENST00000344157.4	-	13	2030	c.1695G>T	c.(1693-1695)aaG>aaT	p.K565N	YTHDC1_ENST00000355665.3_Missense_Mutation_p.K547N|YTHDC1_ENST00000579690.1_Missense_Mutation_p.K565N	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	565	Arg-rich.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						ATCGTGGATCCTTTAAATACC	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	72	71			NA	NA	4		NA											NA				69184570		2203	4300	6503	SO:0001583	missense			AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896	91746	91746			30626	protein-coding gene	gene with protein product					NA	12368078, 10564280	Standard	NM_133370	XM_005265706	NA	Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.1695G>T	4.37:g.69184570C>A	ENSP00000339245:p.Lys565Asn	NA	Q4W5Q3|Q7Z622|Q8TF35	37	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229728	0.58777	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.24350	1.86;1.86	5.64	5.64	0.86602	.	0.158661	0.64402	D	0.000016	T	0.27967	0.0689	N	0.19112	0.55	0.58432	D	0.999995	D;P	0.54964	0.969;0.895	P;P	0.50192	0.634;0.452	T	0.01397	-1.1365	10	0.36615	T	0.2	.	19.7175	0.96129	0.0:1.0:0.0:0.0	.	547;565	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	N	565;547	ENSP00000339245:K565N;ENSP00000347888:K547N	ENSP00000339245:K565N	K	-	3	2	YTHDC1	68867165	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.396000	0.59684	2.662000	0.90505	0.655000	0.94253	AAG	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251437.1		-	ENST00000344157.4	Missense_Mutation	SNP	4 : 69184570 - 69184570 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	451	37
PCDHB13	56123	broad.mit.edu	37	5	140595716	140595716	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140595716C>T	ENST00000341948.4	+	1	2208	c.2021C>T	c.(2020-2022)cCg>cTg	p.P674L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	674					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGCCTCTCCCGGAGGCGGCC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	63	61			NA	NA	5		NA											NA				140595716		2147	4204	6351	SO:0001583	missense			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372	56123	56123		Cadherins / Protocadherins : Clustered	8684	other	protocadherin		606339			NA	10380929	Standard	NM_018933	NM_018933	NA	Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.2021C>T	5.37:g.140595716C>T	ENSP00000345491:p.Pro674Leu	NA		37	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	-	12.06	1.824541	0.32237	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.51071	0.72	3.3	2.41	0.29592	.	.	.	.	.	T	0.49115	0.1538	M	0.90650	3.135	0.09310	N	0.999999	P	0.40398	0.716	B	0.30572	0.117	T	0.50215	-0.8854	9	0.72032	D	0.01	.	8.5099	0.33211	0.0:0.8752:0.0:0.1248	.	674	Q9Y5F0	PCDBD_HUMAN	L	674;674;620	ENSP00000345491:P674L	ENSP00000345491:P674L	P	+	2	0	PCDHB13	140575900	0.000000	0.05858	0.003000	0.11579	0.036000	0.12997	-0.080000	0.11339	0.514000	0.28300	0.298000	0.19748	CCG	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251810.1		+	ENST00000341948.4	Missense_Mutation	SNP	5 : 140595716 - 140595716 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1300	109
METAP1D	254042	broad.mit.edu	37	2	172944904	172944904	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:172944904C>T	ENST00000315796.4	+	9	1286	c.899C>T	c.(898-900)gCa>gTa	p.A300V	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	300					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						ctggaggatgcatggactgtg	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	166	168			NA	NA	2		NA											NA				172944904		2203	4300	6503	SO:0001583	missense			AY374142, BC029123	CCDS2246.1	2q31.1	2010-09-21			ENSG00000172878	ENSG00000172878	254042	254042			32583	protein-coding gene	gene with protein product	methionine aminopeptidase 1D	610267			NA	14532271, 16568094	Standard	NM_199227	NM_199227	NA	Approved	MAP1D, Metap1l	uc002uhk.3	Q6UB28	OTTHUMG00000132283	ENST00000315796.4:c.899C>T	2.37:g.172944904C>T	ENSP00000315152:p.Ala300Val	NA	Q1WNX3	37	CCDS2246.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839983	0.51057	.	.	ENSG00000172878	ENST00000315796	T	0.76839	-1.05	5.95	3.98	0.46160	Peptidase M24, structural domain (3);	0.276681	0.44688	D	0.000435	T	0.66218	0.2767	L	0.34521	1.04	0.32722	N	0.510221	B	0.17465	0.022	B	0.21360	0.034	T	0.70368	-0.4891	10	0.72032	D	0.01	-10.6659	8.2068	0.31461	0.332:0.5529:0.115:0.0	.	300	Q6UB28	AMP1D_HUMAN	V	300	ENSP00000315152:A300V	ENSP00000315152:A300V	A	+	2	0	METAP1D	172653150	0.949000	0.32298	0.814000	0.32528	0.964000	0.63967	2.810000	0.47979	1.496000	0.48567	0.655000	0.94253	GCA	METAP1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255378.2		+	ENST00000315796.4	Missense_Mutation	SNP	2 : 172944904 - 172944904 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	766	132
RP11-144F15.1	0	broad.mit.edu	37	12	107048102	107048102	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107048102A>G	ENST00000551505.1	-	1	229				RFX4_ENST00000357881.4_Silent_p.Q105Q|RFX4_ENST00000392842.1_Silent_p.Q96Q						NA											NA						ATGATACCCAACCTGTCAATG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	87	92			NA	NA	12		NA											NA				107048102		2203	4300	6503	SO:0001627	intron_variant											NA	NA			NA							NA					NA						ENST00000551505.1:c.209+120365T>C	12.37:g.107048102A>G		NA		37																																																																																				RP11-144F15.1-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000407171.1		-	ENST00000551505.1	Intron	SNP	12 : 107048102 - 107048102 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	43
ADAMTS16	170690	broad.mit.edu	37	5	5306714	5306714	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5306714G>A	ENST00000274181.7	+	21	3422	c.3284G>A	c.(3283-3285)tGc>tAc	p.C1095Y		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1095	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCAAAGAAGTGCTCACATTTG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	68	68			NA	NA	5		NA											NA				5306714		1935	4137	6072	SO:0001583	missense			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536	170690	170690		ADAM metallopeptidases with thrombospondin type 1 motif	17108	protein-coding gene	gene with protein product		607510	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16		NA	11867212	Standard	NM_139056	NM_139056	NA	Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.3284G>A	5.37:g.5306714G>A	ENSP00000274181:p.Cys1095Tyr	NA	C6G490|Q8IVE2	37	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030328	0.35797	.	.	ENSG00000145536	ENST00000274181	T	0.72835	-0.69	5.51	4.61	0.57282	.	0.115575	0.64402	D	0.000013	T	0.76478	0.3993	M	0.90870	3.155	0.49130	D	0.999753	B	0.15141	0.012	B	0.21917	0.037	T	0.76310	-0.3006	10	0.87932	D	0	.	11.3249	0.49442	0.0:0.0:0.8181:0.1819	.	1095	Q8TE57	ATS16_HUMAN	Y	1095	ENSP00000274181:C1095Y	ENSP00000274181:C1095Y	C	+	2	0	ADAMTS16	5359714	1.000000	0.71417	0.921000	0.36526	0.117000	0.20001	7.121000	0.77160	1.262000	0.44165	0.561000	0.74099	TGC	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365657.1		+	ENST00000274181.7	Missense_Mutation	SNP	5 : 5306714 - 5306714 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	77
QRICH1	54870	broad.mit.edu	37	3	49094859	49094859	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49094859G>A	ENST00000395443.2	-	3	1246	c.774C>T	c.(772-774)taC>taT	p.Y258Y	QRICH1_ENST00000479449.1_Intron|QRICH1_ENST00000357496.2_Silent_p.Y258Y|QRICH1_ENST00000424300.1_Silent_p.Y258Y	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	258	Gln-rich.									breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CTGAGATGGCGTAGGACACAG	0.612		NA											G	1	5e-04	NA	0.0028	2184	NA	0.9997	,	,	NA	2e-04	NA	NA	NA	6e-04	0.7905	EXOME	NA	NA	0.0031	SNP								NA				0													57	55	56			NA	NA	3		NA											NA				49094859		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218	54870	54870			24713	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_017730	NM_017730	NA	Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.774C>T	3.37:g.49094859G>A		NA	Q4G0F7|Q7L621|Q8TEA5	37	CCDS2787.1																																																																																			QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345669.1		-	ENST00000395443.2	Silent	SNP	3 : 49094859 - 49094859 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	474	75
ZNF280A	129025	broad.mit.edu	37	22	22868833	22868833	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:22868833T>G	ENST00000302097.3	-	2	1374	c.1122A>C	c.(1120-1122)gaA>gaC	p.E374D		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CCTGATCTGTTTCAAATGACA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	90	94			NA	NA	22		NA											NA				22868833		2203	4300	6503	SO:0001583	missense			D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548	129025	129025			18597	protein-coding gene	gene with protein product			zinc finger protein 280, suppressor of hairy wing homolog 1 (Drosophila)	ZNF280, SUHW1	NA	9074928	Standard	NM_080740	NM_080740	NA	Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.1122A>C	22.37:g.22868833T>G	ENSP00000302855:p.Glu374Asp	NA		37	CCDS13800.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.451797	0.43531	.	.	ENSG00000169548	ENST00000302097	T	0.28069	1.63	3.9	3.9	0.45041	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.34221	0.0890	L	0.46819	1.47	0.22389	N	0.99915	P	0.46706	0.883	P	0.47134	0.539	T	0.11542	-1.0583	9	0.51188	T	0.08	0.4225	11.3489	0.49577	0.0:0.0:0.0:1.0	.	374	P59817	Z280A_HUMAN	D	374	ENSP00000302855:E374D	ENSP00000302855:E374D	E	-	3	2	ZNF280A	21198833	1.000000	0.71417	0.497000	0.27552	0.382000	0.30200	1.081000	0.30791	1.988000	0.58038	0.533000	0.62120	GAA	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075433.3		-	ENST00000302097.3	Missense_Mutation	SNP	22 : 22868833 - 22868833 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	540	88
CACNA1C	775	broad.mit.edu	37	12	2775934	2775934	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2775934C>T	ENST00000399655.1	+	37	4874	c.4609C>T	c.(4609-4611)Cgc>Tgc	p.R1537C	CACNA1C_ENST00000399637.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R1562C|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R1524C|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R1565C|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R1557C|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R1559C|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000347598.4_Missense_Mutation_p.R1585C|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R1526C|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R1526C|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R1554C	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1585	Dihydropyridine binding (By similarity).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GTGCCCTCACCGCGTGGCTTG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	38	37			NA	NA	12		NA											NA				2775934		1946	4150	6096	SO:0001583	missense			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067	775	775		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1	NA	1650913, 16382099	Standard	NM_000719	NM_001129832	NA	Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000399655.1:c.4609C>T	12.37:g.2775934C>T	ENSP00000382563:p.Arg1537Cys	NA	B2RUT3|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	37	CCDS44794.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774214	0.69992	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97138	-4.19;-4.18;-4.19;-4.2;-4.18;-4.22;-4.11;-4.15;-4.19;-4.13;-4.12;-4.19;-4.25;-4.12;-4.02;-4.26;-4.21;-4.18;-4.2;-4.12;-4.19;-4.26	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	D	0.98779	0.9589	M	0.92317	3.295	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;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;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.997;0.998;0.999;0.997;0.999;0.998;0.999;0.999;0.999;0.999;0.998;0.99;0.999;0.993;0.998;0.995;0.999;0.999;0.998;0.998;0.999;0.999;0.999;0.998	D	0.99651	1.0991	10	0.87932	D	0	.	17.492	0.87707	0.0:1.0:0.0:0.0	.	228;1559;1534;1585;1537;1537;1537;1554;1565;1537;1557;1537;1497;1585;1537;1537;1537;1526;1524;1526;1526;1537;1537;1537;1537	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	C	1562;1537;1537;1565;1537;1537;1537;1526;1537;1585;1557;1537;1559;1554;1537;1524;1537;1537;1537;1537;1537;1526;1367	ENSP00000336982:R1562C;ENSP00000382563:R1537C;ENSP00000382552:R1537C;ENSP00000382547:R1565C;ENSP00000382506:R1537C;ENSP00000382530:R1537C;ENSP00000382546:R1537C;ENSP00000382500:R1526C;ENSP00000382549:R1537C;ENSP00000266376:R1585C;ENSP00000382515:R1557C;ENSP00000382510:R1537C;ENSP00000341092:R1559C;ENSP00000382537:R1554C;ENSP00000329877:R1537C;ENSP00000382557:R1524C;ENSP00000385724:R1537C;ENSP00000382512:R1537C;ENSP00000382542:R1537C;ENSP00000382526:R1537C;ENSP00000385896:R1537C;ENSP00000382504:R1526C	ENSP00000323129:R1367C	R	+	1	0	CACNA1C	2646195	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	2.161000	0.42358	2.429000	0.82318	0.655000	0.94253	CGC	CACNA1C-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317019.2		+	ENST00000399655.1	Missense_Mutation	SNP	12 : 2775934 - 2775934 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	79	15
NAPA	8775	broad.mit.edu	37	19	47996703	47996703	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47996703G>T	ENST00000263354.3	-	5	689	c.390C>A	c.(388-390)atC>atA	p.I130I	NAPA_ENST00000595227.1_Silent_p.I91I|NAPA-AS1_ENST00000593284.1_RNA|NAPA-AS1_ENST00000594367.1_RNA	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	130					cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol		p.I130I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		CTGTCTCATAGATCTCAGCAA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(185;1135 2042 27703 31345 42493)							NA				1	Substitution - coding silent(1)	large_intestine(1)											252	217	229			NA	NA	19		NA											NA				47996703		2203	4300	6503	SO:0001819	synonymous_variant			U39412	CCDS12702.1	19q13.33	2012-08-16			ENSG00000105402	ENSG00000105402	8775	8775			7641	protein-coding gene	gene with protein product	alpha SNAP	603215			NA	9269766	Standard	NM_003827	NM_003827	NA	Approved		uc002pha.2	P54920		ENST00000263354.3:c.390C>A	19.37:g.47996703G>T		NA	A8K879|Q96IK3|Q9BVJ3	37	CCDS12702.1																																																																																			NAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466048.2		-	ENST00000263354.3	Silent	SNP	19 : 47996703 - 47996703 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1487	273
LRRFIP1	9208	broad.mit.edu	37	2	238688109	238688109	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238688109C>T	ENST00000308482.9	+	24	1926	c.1857C>T	c.(1855-1857)aaC>aaT	p.N619N		NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	306					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AGGTGAGCAACGGCCACTTAG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	0,3136		0,0,1568	71	66	68		1857,1119	-0.1	1	2		68	1,7163		0,1,3581	no	coding-synonymous,coding-synonymous	LRRFIP1	NM_001137550.1,NM_001137551.1	,	0,1,5149	TT,TC,CC	NA	0.014,0.0,0.0097	,	619/641,373/395	238688109	1,10299	1568	3582	5150	SO:0001819	synonymous_variant			AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831	9208	9208			6702	protein-coding gene	gene with protein product	GC-binding factor 2	603256			NA	9705290, 9525888, 16199883	Standard	NM_004735	NM_004735	NA	Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000308482.9:c.1857C>T	2.37:g.238688109C>T		NA	O75766|O75799|Q32MZ5|Q53T49|Q6PKG2	37	CCDS46551.1																																																																																			LRRFIP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257169.3		+	ENST00000308482.9	Silent	SNP	2 : 238688109 - 238688109 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	199	57
EFR3A	23167	broad.mit.edu	37	8	132996489	132996489	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:132996489T>C	ENST00000254624.5	+	15	1904	c.1679T>C	c.(1678-1680)aTt>aCt	p.I560T	EFR3A_ENST00000519656.1_Missense_Mutation_p.I524T|EFR3A_ENST00000334503.4_Missense_Mutation_p.I560T	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	560						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			CTTATAACTATTGAACTGGCT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	127	127			NA	NA	8		NA											NA				132996489		2203	4300	6503	SO:0001583	missense			D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294	23167	23167			28970	protein-coding gene	gene with protein product		611798			NA	15363888	Standard	NM_015137	NM_015137	NA	Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.1679T>C	8.37:g.132996489T>C	ENSP00000254624:p.Ile560Thr	NA	A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	37	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	T	25.1	4.603648	0.87157	.	.	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T	0.39406	1.08;1.08;1.09	6.02	6.02	0.97574	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	L	0.58810	1.83	0.80722	D	1	P	0.41131	0.739	B	0.40901	0.343	T	0.49093	-0.8975	10	0.87932	D	0	-25.7963	15.7305	0.77800	0.0:0.0:0.0:1.0	.	560	Q14156	EFR3A_HUMAN	T	560;560;560;524	ENSP00000254624:I560T;ENSP00000334769:I560T;ENSP00000428086:I524T	ENSP00000254624:I560T	I	+	2	0	EFR3A	133065671	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.649000	0.83500	2.299000	0.77371	0.528000	0.53228	ATT	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318886.1		+	ENST00000254624.5	Missense_Mutation	SNP	8 : 132996489 - 132996489 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	425	73
KLHL38	340359	broad.mit.edu	37	8	124665022	124665022	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124665022G>A	ENST00000325995.7	-	1	168	c.145C>T	c.(145-147)Cgc>Tgc	p.R49C	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	49	BTB.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						AGCACGTTGCGGTGGCAGGGG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/ARG	0,4114		0,0,2057	54	58	57		145	4.6	1	8		57	1,8425		0,1,4212	no	missense	KLHL38	NM_001081675.2	180	0,1,6269	AA,AG,GG	NA	0.0119,0.0,0.0080	probably-damaging	49/582	124665022	1,12539	2057	4213	6270	SO:0001583	missense				CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946	340359	340359		Kelch-like, BTB/POZ domain containing	34435	protein-coding gene	gene with protein product			kelch-like 38 (Drosophila)		NA		Standard		NM_001081675	NA	Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.145C>T	8.37:g.124665022G>A	ENSP00000321475:p.Arg49Cys	NA	A0PK12	37	CCDS43766.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022586	0.54683	0.0	1.19E-4	ENSG00000175946	ENST00000325995	T	0.75477	-0.94	5.52	4.56	0.56223	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.91700	0.7376	H	0.98802	4.335	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.94648	0.7836	10	0.87932	D	0	.	15.4823	0.75537	0.0:0.0:0.7771:0.2229	.	49	Q2WGJ6	KLH38_HUMAN	C	49	ENSP00000321475:R49C	ENSP00000321475:R49C	R	-	1	0	KLHL38	124734203	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	1.287000	0.33284	2.596000	0.87737	0.561000	0.74099	CGC	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381288.1		-	ENST00000325995.7	Missense_Mutation	SNP	8 : 124665022 - 124665022 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	437	76
ZFP91	80829	broad.mit.edu	37	11	58384868	58384868	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58384868G>A	ENST00000316059.6	+	11	1573	c.1402G>A	c.(1402-1404)Gcc>Acc	p.A468T	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.A468T	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	468					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CAATGCAGGCGCCCTCATCAC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	50	52			NA	NA	11		NA											NA				58384868		2201	4295	6496	SO:0001583	missense			AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660	80829	80829		Zinc fingers, C2H2-type	14983	protein-coding gene	gene with protein product			zinc finger protein homologous to Zfp91 in mouse, zinc finger protein 91 homolog (mouse)		NA	12738986, 20682767	Standard	NM_053023	NM_053023	NA	Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.1402G>A	11.37:g.58384868G>A	ENSP00000339030:p.Ala468Thr	NA	A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	37	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337103	0.81801	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.12774	2.65	6.16	6.16	0.99307	.	0.221703	0.38897	N	0.001522	T	0.24890	0.0604	L	0.29908	0.895	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	P;P	0.62298	0.9;0.89	T	0.00575	-1.1663	10	0.23891	T	0.37	-9.8508	19.6313	0.95704	0.0:0.0:1.0:0.0	.	468;468	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	T	468	ENSP00000339030:A468T	ENSP00000374569:A468T	A	+	1	0	ZFP91	58141444	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.541000	0.82084	2.937000	0.99478	0.650000	0.86243	GCC	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268674.1		+	ENST00000316059.6	Missense_Mutation	SNP	11 : 58384868 - 58384868 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	274	57
IFI44L	10964	broad.mit.edu	37	1	79094664	79094664	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:79094664G>T	ENST00000370751.5	+	3	686	c.507G>T	c.(505-507)aaG>aaT	p.K169N	IFI44L_ENST00000342282.3_5'UTR|IFI44L_ENST00000476521.1_3'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	NA						cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						ACGACATAAAGAGGATAATTA	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	88	87			NA	NA	1		NA											NA				79094664		2203	4300	6503	SO:0001583	missense			AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959	10964	10964			17817	protein-coding gene	gene with protein product		613975	chromosome 1 open reading frame 29	C1orf29	NA		Standard	NM_006820	NM_006820	NA	Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.507G>T	1.37:g.79094664G>T	ENSP00000359787:p.Lys169Asn	NA	Q86TE1|Q96B64|Q99984	37	CCDS687.2	.	.	.	.	.	.	.	.	.	.	G	3.842	-0.033663	0.07543	.	.	ENSG00000137959	ENST00000370751;ENST00000450498	T;T	0.15256	3.04;2.44	2.88	-1.53	0.08611	.	0.483713	0.17055	N	0.188776	T	0.03095	0.0091	N	0.25647	0.755	0.19300	N	0.99998	B	0.14805	0.011	B	0.15484	0.013	T	0.40887	-0.9539	10	0.39692	T	0.17	5.2127	6.8939	0.24245	0.1307:0.4212:0.4482:0.0	.	169	Q53G44	IF44L_HUMAN	N	169;146	ENSP00000359787:K169N;ENSP00000400784:K146N	ENSP00000359787:K169N	K	+	3	2	IFI44L	78867252	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.340000	0.07821	-0.322000	0.08615	-0.480000	0.04831	AAG	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026834.3		+	ENST00000370751.5	Missense_Mutation	SNP	1 : 79094664 - 79094664 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	279	26
FZD2	2535	broad.mit.edu	37	17	42635747	42635747	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42635747G>A	ENST00000315323.3	+	1	823	c.691G>A	c.(691-693)Gat>Aat	p.D231N		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	231					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGCGCGGCCCGATGGTTCCAT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	54	55			NA	NA	17		NA											NA				42635747		2203	4300	6503	SO:0001583	missense			L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340	2535	2535		GPCR / Class F : Frizzled receptors	4040	protein-coding gene	gene with protein product		600667	frizzled (Drosophila) homolog 2, frizzled homolog 2 (Drosophila), frizzled 2, seven transmembrane spanning receptor, frizzled family receptor 2		NA	7558010, 9813155	Standard	NM_001466	NM_001466	NA	Approved		uc002igx.2	Q14332		ENST00000315323.3:c.691G>A	17.37:g.42635747G>A	ENSP00000323901:p.Asp231Asn	NA	Q0VG82	37	CCDS11484.1	.	.	.	.	.	.	.	.	.	.	g	0.258	-1.001330	0.02128	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	T	0.73258	-0.73	4.34	4.34	0.51931	.	0.112484	0.64402	D	0.000017	T	0.41396	0.1157	N	0.01874	-0.695	0.31338	N	0.683994	B	0.12630	0.006	B	0.04013	0.001	T	0.30504	-0.9976	10	0.02654	T	1	.	16.4665	0.84080	0.0:0.0:1.0:0.0	.	231	Q14332	FZD2_HUMAN	N	307;231	ENSP00000323901:D231N	ENSP00000323901:D231N	D	+	1	0	FZD2	39991273	0.767000	0.28508	0.806000	0.32338	0.629000	0.37895	1.461000	0.35255	1.935000	0.56089	0.561000	0.74099	GAT	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457806.1		+	ENST00000315323.3	Missense_Mutation	SNP	17 : 42635747 - 42635747 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	412	71
MECOM	2122	broad.mit.edu	37	3	168819903	168819903	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:168819903G>A	ENST00000464456.1	-	9	3325	c.2125C>T	c.(2125-2127)Ccc>Tcc	p.P709S	MECOM_ENST00000460814.1_Missense_Mutation_p.P709S|MECOM_ENST00000494292.1_Missense_Mutation_p.P897S|MECOM_ENST00000392736.3_Missense_Mutation_p.P718S|MECOM_ENST00000264674.3_Missense_Mutation_p.P783S|MECOM_ENST00000433243.2_Missense_Mutation_p.P719S|MECOM_ENST00000468789.1_Missense_Mutation_p.P718S|MECOM_ENST00000472280.1_Missense_Mutation_p.P719S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AGGGCATTGGGAGGCGCCCTG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	70	72			NA	NA	3		NA											NA				168819903		2203	4300	6503	SO:0001583	missense			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276	2122	2122		Zinc fingers, C2H2-type	3498	protein-coding gene	gene with protein product		165215	myelodysplasia syndrome 1, ecotropic viral integration site 1	MDS1, EVI1	NA	2115646, 8171026, 8643684	Standard	NM_005241, NM_004991	NM_001105077	NA	Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2125C>T	3.37:g.168819903G>A	ENSP00000419770:p.Pro709Ser	NA	Q13466|Q6FH90	37	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	G	7.042	0.562745	0.13498	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.08282	3.21;3.21;3.12;3.31;3.12;3.21;3.11;3.31	5.45	5.45	0.79879	.	0.088883	0.49916	D	0.000133	T	0.04770	0.0129	N	0.14661	0.345	0.52099	D	0.999948	B;B;B;B;B	0.16166	0.016;0.013;0.005;0.016;0.009	B;B;B;B;B	0.17722	0.019;0.007;0.008;0.01;0.004	T	0.17745	-1.0359	10	0.02654	T	1	-11.5724	12.9639	0.58473	0.074:0.0:0.926:0.0	.	906;710;897;783;718	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	S	783;718;709;719;897;718;709;719	ENSP00000264674:P783S;ENSP00000376493:P718S;ENSP00000419770:P709S;ENSP00000420048:P719S;ENSP00000417899:P897S;ENSP00000419995:P718S;ENSP00000420466:P709S;ENSP00000394302:P719S	ENSP00000264674:P783S	P	-	1	0	MECOM	170302597	1.000000	0.71417	1.000000	0.80357	0.026000	0.11368	6.367000	0.73099	2.730000	0.93505	0.655000	0.94253	CCC	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351519.1		-	ENST00000464456.1	Missense_Mutation	SNP	3 : 168819903 - 168819903 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	257	37
EME2	197342	broad.mit.edu	37	16	1825702	1825702	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1825702C>A	ENST00000568449.1	+	6	800				EME2_ENST00000307394.7_Missense_Mutation_p.L317M	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	NA					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GATGCCAAGGCTGAAGGGGGG	0.607		NA						Direct reversal of damage;Homologous recombination						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	73	73			NA	NA	16		NA											NA				1825702		2198	4300	6498	SO:0001627	intron_variant			AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774	197342	197342			27289	protein-coding gene	gene with protein product	SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)	610886	essential meiotic endonuclease 1 homolog 2 (S. pombe)		NA	12721304	Standard	NM_001010865	NM_001257370	NA	Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.779+17C>A	16.37:g.1825702C>A		NA	Q8TEP2|Q96RY3	37	CCDS58404.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.688038	0.29962	.	.	ENSG00000197774	ENST00000307394;ENST00000454910	.	.	.	3.9	-2.1	0.07210	.	2.683260	0.02107	N	0.054434	T	0.22513	0.0543	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.09335	-1.0679	6	0.34782	T	0.22	5.8205	1.4373	0.02346	0.1275:0.3574:0.1738:0.3412	.	.	.	.	M	317;273	.	ENSP00000303779:L317M	L	+	1	2	EME2	1765703	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.471000	0.06631	-0.202000	0.10268	-0.221000	0.12465	CTG	EME2-001	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000433185.2		+	ENST00000568449.1	Intron	SNP	16 : 1825702 - 1825702 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	453	72
CHD6	84181	broad.mit.edu	37	20	40033726	40033726	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40033726G>A	ENST00000373233.3	-	37	7832	c.7655C>T	c.(7654-7656)gCg>gTg	p.A2552V	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2552					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGATAGAGACGCCGGAGCAGT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	108	109			NA	NA	20		NA											NA				40033726		2203	4300	6503	SO:0001583	missense			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177	NA	84181			19057	protein-coding gene	gene with protein product					NA	11889561	Standard		NM_032221	NA	Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.7655C>T	20.37:g.40033726G>A	ENSP00000362330:p.Ala2552Val	NA	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	37	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222351	0.58560	.	.	ENSG00000124177	ENST00000373233	D	0.86956	-2.19	5.55	5.55	0.83447	.	0.209857	0.33834	N	0.004520	T	0.80949	0.4722	L	0.52573	1.65	0.80722	D	1	P	0.41131	0.739	B	0.28553	0.091	T	0.80736	-0.1249	10	0.33141	T	0.24	-9.0735	15.3331	0.74229	0.0:0.0:0.8599:0.1401	.	2552	Q8TD26	CHD6_HUMAN	V	2552	ENSP00000362330:A2552V	ENSP00000362330:A2552V	A	-	2	0	CHD6	39467140	0.993000	0.37304	0.887000	0.34795	0.882000	0.50991	4.988000	0.63863	2.894000	0.99253	0.591000	0.81541	GCG	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079270.1		-	ENST00000373233.3	Missense_Mutation	SNP	20 : 40033726 - 40033726 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	700	20
ZNF236	7776	broad.mit.edu	37	18	74561610	74561610	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74561610G>A	ENST00000253159.8	+	2	376	c.178G>A	c.(178-180)Gag>Aag	p.E60K	ZNF236_ENST00000320610.9_Missense_Mutation_p.E62K	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	60					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GAGGGATCACGAGCGAAATGA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	62	63			NA	NA	18		NA											NA				74561610		1875	4104	5979	SO:0001583	missense			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856	7776	7776		Zinc fingers, C2H2-type	13028	protein-coding gene	gene with protein product		604760			NA	10458916	Standard		NM_007345	NA	Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.178G>A	18.37:g.74561610G>A	ENSP00000253159:p.Glu60Lys	NA	B2RTX9|Q9UL37	37	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244485	0.79912	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.16743	2.32;2.32	5.65	5.65	0.86999	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.28499	0.0705	N	0.20483	0.58	0.46725	D	0.999171	D;D	0.89917	1.0;0.998	D;P	0.91635	0.999;0.766	T	0.05305	-1.0893	10	0.20519	T	0.43	.	19.7319	0.96186	0.0:0.0:1.0:0.0	.	60;60	Q9NWI2;Q9UL36	.;ZN236_HUMAN	K	60	ENSP00000253159:E60K;ENSP00000444524:E60K	ENSP00000253159:E60K	E	+	1	0	ZNF236	72690598	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	5.692000	0.68256	2.668000	0.90789	0.655000	0.94253	GAG	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445776.1		+	ENST00000253159.8	Missense_Mutation	SNP	18 : 74561610 - 74561610 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	231	45
TAF5L	27097	broad.mit.edu	37	1	229738419	229738419	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229738419G>A	ENST00000366675.3	-	4	583	c.495C>T	c.(493-495)gtC>gtT	p.V165V	TAF5L_ENST00000366676.1_Silent_p.V165V|TAF5L_ENST00000258281.2_Silent_p.V165V	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	165					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CTTGGAGACGGACCACGTACT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													200	190	193			NA	NA	1		NA											NA				229738419		2203	4300	6503	SO:0001819	synonymous_variant			AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801	27097	27097		WD repeat domain containing	17304	protein-coding gene	gene with protein product	PCAF associated factor 65 beta		TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD		NA	9674425, 11124703	Standard	NM_014409	XM_005273100	NA	Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366675.3:c.495C>T	1.37:g.229738419G>A		NA	Q5TDI5|Q5TDI6|Q8IW31	37	CCDS31051.1																																																																																			TAF5L-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095230.1		-	ENST00000366675.3	Silent	SNP	1 : 229738419 - 229738419 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	744	64
USP35	57558	broad.mit.edu	37	11	77924851	77924851	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77924851G>A	ENST00000529308.1	+	11	3310	c.3049G>A	c.(3049-3051)Gtc>Atc	p.V1017I	USP35_ENST00000530267.1_Missense_Mutation_p.V585I|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.V748I|USP35_ENST00000441408.2_Missense_Mutation_p.V603I	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	1017					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CCACAGACTGGTCTTCTAATG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	76	76			NA	NA	11		NA											NA				77924851		2055	4179	6234	SO:0001583	missense			AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369	57558	57558		Ubiquitin-specific peptidases	20061	protein-coding gene	gene with protein product			ubiquitin specific protease 35		NA	12838346	Standard	XM_290527	NM_020798	NA	Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.3049G>A	11.37:g.77924851G>A	ENSP00000431876:p.Val1017Ile	NA		37	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	g	25.9	4.683397	0.88542	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T	0.17854	2.93;3.04;2.25;3.03	4.7	4.7	0.59300	.	0.000000	0.44902	D	0.000404	T	0.40619	0.1124	L	0.61218	1.895	0.47698	D	0.999495	D;D	0.69078	0.984;0.997	D;D	0.73708	0.967;0.981	T	0.31251	-0.9950	10	0.87932	D	0	-37.6217	17.842	0.88718	0.0:0.0:1.0:0.0	.	1017;603	Q9P2H5;E7EWV7	UBP35_HUMAN;.	I	585;1017;603;748	ENSP00000435468:V585I;ENSP00000431876:V1017I;ENSP00000400825:V603I;ENSP00000434942:V748I	ENSP00000400825:V603I	V	+	1	0	USP35	77602499	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	6.713000	0.74686	2.436000	0.82500	0.558000	0.71614	GTC	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390026.1		+	ENST00000529308.1	Missense_Mutation	SNP	11 : 77924851 - 77924851 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	299	56
SSH1	54434	broad.mit.edu	37	12	109181823	109181823	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109181823G>A	ENST00000326495.5	-	15	3184	c.3091C>T	c.(3091-3093)Cca>Tca	p.P1031S	SSH1_ENST00000360239.3_Missense_Mutation_p.P719S	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	1031	Interaction with YWHAG.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTCCCTGATGGTTTGGAGGTT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	104	102			NA	NA	12		NA											NA				109181823		2203	4300	6503	SO:0001583	missense			BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112	54434	54434		Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots	30579	protein-coding gene	gene with protein product		606778	slingshot homolog 1 (Drosophila)		NA	10718198, 11832213	Standard	NM_018984	NM_018984	NA	Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.3091C>T	12.37:g.109181823G>A	ENSP00000315713:p.Pro1031Ser	NA	Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	37	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	G	7.846	0.722921	0.15439	.	.	ENSG00000084112	ENST00000360239;ENST00000326495	T;T	0.12147	2.86;2.71	5.0	-2.85	0.05734	.	3.429030	0.00447	N	0.000081	T	0.08626	0.0214	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.24261	-1.0165	10	0.18276	T	0.48	1.3753	4.7863	0.13227	0.3481:0.0856:0.4793:0.0871	.	1031;719	Q8WYL5;Q8WYL5-4	SSH1_HUMAN;.	S	719;1031	ENSP00000353374:P719S;ENSP00000315713:P1031S	ENSP00000315713:P1031S	P	-	1	0	SSH1	107705952	0.000000	0.05858	0.000000	0.03702	0.158000	0.22134	0.027000	0.13621	-0.805000	0.04404	-0.813000	0.03139	CCA	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403724.1		-	ENST00000326495.5	Missense_Mutation	SNP	12 : 109181823 - 109181823 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	732	133
LIPE	3991	broad.mit.edu	37	19	42911420	42911420	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42911420G>A	ENST00000244289.4	-	6	2319	c.2043C>T	c.(2041-2043)atC>atT	p.I681I	LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	681					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GGGAGTAGTCGATGGAGATGA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4405		0,1,2202	24	23	23		2043	-0.4	1	19		23	0,8596		0,0,4298	no	coding-synonymous	LIPE	NM_005357.2		0,1,6500	AA,AG,GG	NA	0.0,0.0227,0.0077		681/1077	42911420	1,13001	2203	4298	6501	SO:0001819	synonymous_variant			L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3991	3991	3.1.1.3		6621	protein-coding gene	gene with protein product		151750			NA	8506334	Standard	NM_005357	NM_005357	NA	Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.2043C>T	19.37:g.42911420G>A		NA	Q3LRT2|Q6NSL7	37	CCDS12607.1																																																																																			LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463861.1		-	ENST00000244289.4	Silent	SNP	19 : 42911420 - 42911420 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	88	9
TEKT5	146279	broad.mit.edu	37	16	10775953	10775953	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:10775953C>T	ENST00000283025.2	-	4	831	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	254					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CTTTTGTCTTCGAGGTCCCTC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													242	194	210			NA	NA	16		NA											NA				10775953		2197	4300	6497	SO:0001583	missense				CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060	146279	146279			26554	protein-coding gene	gene with protein product					NA		Standard	NM_144674	NM_144674	NA	Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.760G>A	16.37:g.10775953C>T	ENSP00000283025:p.Glu254Lys	NA	A1L3Z3	37	CCDS10542.1	.	.	.	.	.	.	.	.	.	.	C	6.681	0.494159	0.12702	.	.	ENSG00000153060	ENST00000283025	T	0.02280	4.36	5.05	5.05	0.67936	.	0.239661	0.28865	N	0.013890	T	0.01254	0.0041	N	0.04203	-0.255	0.30759	N	0.74427	B	0.17852	0.024	B	0.17722	0.019	T	0.34428	-0.9829	10	0.27082	T	0.32	-34.5828	6.6583	0.23000	0.1787:0.7307:0.0:0.0906	.	254	Q96M29	TEKT5_HUMAN	K	254	ENSP00000283025:E254K	ENSP00000283025:E254K	E	-	1	0	TEKT5	10683454	0.307000	0.24500	0.915000	0.36163	0.004000	0.04260	0.882000	0.28186	2.331000	0.79229	0.655000	0.94253	GAA	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251963.1		-	ENST00000283025.2	Missense_Mutation	SNP	16 : 10775953 - 10775953 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	915	178
PCDHB5	26167	broad.mit.edu	37	5	140516509	140516509	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140516509G>A	ENST00000231134.5	+	1	1710	c.1493G>A	c.(1492-1494)cGc>cAc	p.R498H		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	498	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCACACCTGCGCCTCGCCTCC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	110	111			NA	NA	5		NA											NA				140516509		2203	4300	6503	SO:0001583	missense			AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209	26167	26167		Cadherins / Protocadherins : Clustered	8690	other	protocadherin		606331			NA	10380929	Standard	NM_015669	NM_015669	NA	Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1493G>A	5.37:g.140516509G>A	ENSP00000231134:p.Arg498His	NA	Q549F4|Q9UFU9	37	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	G	3.799	-0.042113	0.07452	.	.	ENSG00000113209	ENST00000231134;ENST00000537936	T	0.01767	4.65	4.44	1.47	0.22746	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01287	0.0042	L	0.31420	0.93	0.09310	N	1	P	0.43024	0.798	B	0.32149	0.141	T	0.50833	-0.8781	9	0.87932	D	0	.	4.3418	0.11113	0.1527:0.4683:0.2975:0.0815	.	498	Q9Y5E4	PCDB5_HUMAN	H	498;282	ENSP00000231134:R498H	ENSP00000231134:R498H	R	+	2	0	PCDHB5	140496693	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	0.024000	0.13555	0.067000	0.16545	-0.475000	0.04921	CGC	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251811.1		+	ENST00000231134.5	Missense_Mutation	SNP	5 : 140516509 - 140516509 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1223	235
GABRA2	2555	broad.mit.edu	37	4	46252622	46252622	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46252622C>A	ENST00000507069.1	-	10	1246		c.e10-1		GABRA2_ENST00000510861.1_Splice_Site|GABRA2_ENST00000381620.4_Splice_Site|GABRA2_ENST00000540012.1_Splice_Site|GABRA2_ENST00000514090.1_Splice_Site|GABRA2_ENST00000356504.1_Splice_Site			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	NA					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTTCTTTTTTCTATTGAAAAA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	50	49			NA	NA	4		NA											NA				46252622		2203	4298	6501	SO:0001630	splice_region_variant				CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834	2555	2555		GABA receptors, Ligand-gated ion channels / GABA(A) receptors	4076	protein-coding gene	gene with protein product	GABA(A) receptor, alpha 2	137140			NA		Standard		NM_000807	NA	Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000507069.1:c.1240-1G>T	4.37:g.46252622C>A		NA	Q59G14	37		.	.	.	.	.	.	.	.	.	.	C	19.17	3.776042	0.70107	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3998	0.94623	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GABRA2	45947379	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.647000	0.46639	2.827000	0.97445	0.655000	0.94253	.	GABRA2-013	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000363658.1	Intron	-	ENST00000507069.1	Splice_Site	SNP	4 : 46252622 - 46252622 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	392	61
MSL1	339287	broad.mit.edu	37	17	38289356	38289356	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38289356G>T	ENST00000398532.4	+	6	1865	c.1550G>T	c.(1549-1551)aGg>aTg	p.R517M	MSL1_ENST00000578648.1_Missense_Mutation_p.R501M|MSL1_ENST00000579565.1_Missense_Mutation_p.R254M	NM_001012241.1	NP_001012241.1	Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	NA					histone H4-K16 acetylation	MSL complex				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						GAGAAGAGAAGGAAAAGGTGA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	71	70			NA	NA	17		NA											NA				38289356		1969	4164	6133	SO:0001583	missense				CCDS45670.1	17q21.1	2011-03-21			ENSG00000188895	ENSG00000188895	339287	339287			27905	protein-coding gene	gene with protein product		614801			NA	16227571, 16543150	Standard	NM_001012241	NM_001012241	NA	Approved	hMSL1, MSL-1, DKFZp686P24239	uc002hua.4	Q68DK7		ENST00000398532.4:c.1550G>T	17.37:g.38289356G>T	ENSP00000381543:p.Arg517Met	NA	Q0VF46|Q69Z03	37		.	.	.	.	.	.	.	.	.	.	G	16.69	3.193403	0.58017	.	.	ENSG00000188895	ENST00000339569;ENST00000398532	T	0.62639	0.01	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.74726	0.3754	M	0.63843	1.955	0.80722	D	1	.	.	.	.	.	.	T	0.74765	-0.3554	8	0.54805	T	0.06	-1.7679	18.5758	0.91154	0.0:0.0:1.0:0.0	.	.	.	.	M	254;517	ENSP00000381543:R517M	ENSP00000341409:R254M	R	+	2	0	MSL1	35542882	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.458000	0.97634	2.683000	0.91414	0.655000	0.94253	AGG	MSL1-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000447409.2		+	ENST00000398532.4	Missense_Mutation	SNP	17 : 38289356 - 38289356 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	56	14
PDE5A	8654	broad.mit.edu	37	4	120474867	120474867	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120474867C>T	ENST00000354960.3	-	8	1553	c.1234G>A	c.(1234-1236)Gct>Act	p.A412T	PDE5A_ENST00000394439.1_Missense_Mutation_p.A360T|PDE5A_ENST00000264805.5_Missense_Mutation_p.A370T	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	412	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	ACATACTGAGCATACATGTAA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													224	217	219			NA	NA	4		NA											NA				120474867		2203	4300	6503	SO:0001583	missense			D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	8654	8654	3.1.4.17	Phosphodiesterases	8784	protein-coding gene	gene with protein product		603310			NA	9714779, 9642111	Standard	NM_001083	NM_033437	NA	Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1234G>A	4.37:g.120474867C>T	ENSP00000347046:p.Ala412Thr	NA	A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	37	CCDS3713.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.610356	0.66558	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	T;T;T	0.68331	-0.32;-0.32;-0.32	5.82	5.82	0.92795	GAF (2);	0.000000	0.85682	D	0.000000	T	0.65801	0.2726	L	0.56340	1.77	0.80722	D	1	B;B	0.26708	0.011;0.157	B;B	0.27380	0.077;0.079	T	0.60677	-0.7216	10	0.36615	T	0.2	.	19.707	0.96076	0.0:1.0:0.0:0.0	.	412;370	O76074;O76074-2	PDE5A_HUMAN;.	T	412;360;370	ENSP00000347046:A412T;ENSP00000377957:A360T;ENSP00000264805:A370T	ENSP00000264805:A370T	A	-	1	0	PDE5A	120694315	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.380000	0.79704	2.751000	0.94390	0.650000	0.86243	GCT	PDE5A-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256529.1		-	ENST00000354960.3	Missense_Mutation	SNP	4 : 120474867 - 120474867 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	425	76
ATP2B2	491	broad.mit.edu	37	3	10400486	10400486	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10400486G>A	ENST00000397077.1	-	13	2465	c.1890C>T	c.(1888-1890)gcC>gcT	p.A630A	ATP2B2_ENST00000360273.2_Silent_p.A675A|ATP2B2_ENST00000343816.4_Silent_p.A661A|ATP2B2_ENST00000352432.4_Silent_p.A675A|ATP2B2_ENST00000383800.4_Silent_p.A630A			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	675					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						AGTCGCGGTAGGCCACGCAGA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(125;1619 1709 15675 19819 38835)							NA				0													63	53	56			NA	NA	3		NA											NA				10400486		2203	4300	6503	SO:0001819	synonymous_variant			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	491	491	3.6.3.8	ATPases / P-type	815	protein-coding gene	gene with protein product	plasma membrane Ca2+ pump 2, plasma membrane calcium-transporting ATPase 2	108733			NA	1313367	Standard	NM_001683	NM_001001331	NA	Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000397077.1:c.1890C>T	3.37:g.10400486G>A		NA	O00766|Q12994|Q16818	37	CCDS2601.1																																																																																			ATP2B2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276089.2		-	ENST00000397077.1	Silent	SNP	3 : 10400486 - 10400486 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	347	69
ERCC4	2072	broad.mit.edu	37	16	14029521	14029521	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14029521G>A	ENST00000311895.7	+	8	1741	c.1732G>A	c.(1732-1734)Gtg>Atg	p.V578M		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	578					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						GCCAAGATACGTGGTTCTTTA	0.493		NA	Mis, N, F			skin basal cell, skin squamous cell, melanoma		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				G	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	4e-04	0.95	EXOME	NA	NA	7e-04	SNP		yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	excision repair cross-complementing rodent repair deficiency, complementation group 4		E	0													79	78	78			NA	NA	16		NA											NA				14029521		2197	4300	6497	SO:0001583	missense	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595	2072	2072			3436	protein-coding gene	gene with protein product	xeroderma pigmentosum, complementation group F	133520	excision repair cross-complementing rodent repair deficiency, complementation group 4	XPF	NA	9579555, 8887684	Standard	NM_005236	NM_005236	NA	Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.1732G>A	16.37:g.14029521G>A	ENSP00000310520:p.Val578Met	NA	A8K111|O00140|Q8TD83	37	CCDS32390.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	27.4	4.831633	0.91036	.	.	ENSG00000175595	ENST00000311895;ENST00000389138	T	0.63744	-0.06	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.81508	0.4837	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83833	0.0253	10	0.72032	D	0.01	-23.4834	18.3806	0.90449	0.0:0.0:1.0:0.0	.	578	Q92889	XPF_HUMAN	M	578;567	ENSP00000310520:V578M	ENSP00000310520:V578M	V	+	1	0	ERCC4	13937022	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.420000	0.97426	2.644000	0.89710	0.591000	0.81541	GTG	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109634.2		+	ENST00000311895.7	Missense_Mutation	SNP	16 : 14029521 - 14029521 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	488	104
ZNF606	80095	broad.mit.edu	37	19	58490360	58490360	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58490360G>T	ENST00000341164.4	-	7	2308	c.1688C>A	c.(1687-1689)tCt>tAt	p.S563Y	ZNF606_ENST00000536132.1_Missense_Mutation_p.S473Y	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	563					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S563Y(2)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTTTGCTCCAGAATGAGTTCT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	large_intestine(2)											66	66	66			NA	NA	19		NA											NA				58490360		2203	4300	6503	SO:0001583	missense			AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704	80095	80095		Zinc fingers, C2H2-type, -	25879	protein-coding gene	gene with protein product		613905		ZNF328	NA	11347906	Standard	NM_025027	XM_005259276	NA	Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1688C>A	19.37:g.58490360G>T	ENSP00000343617:p.Ser563Tyr	NA	A8KAN2|Q8NE04|Q96JH5	37	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.561739	0.45590	.	.	ENSG00000166704	ENST00000341164;ENST00000536132	T;T	0.19938	2.11;2.11	4.71	4.71	0.59529	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.299887	0.24513	N	0.037875	T	0.35098	0.0920	L	0.43923	1.385	0.33955	D	0.64489	D	0.71674	0.998	D	0.66196	0.942	T	0.45469	-0.9259	10	0.87932	D	0	.	12.0649	0.53581	0.0:0.0:0.8273:0.1727	.	563	Q8WXB4	ZN606_HUMAN	Y	563;473	ENSP00000343617:S563Y;ENSP00000445624:S473Y	ENSP00000343617:S563Y	S	-	2	0	ZNF606	63182172	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.571000	0.53841	2.597000	0.87782	0.561000	0.74099	TCT	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405961.1		-	ENST00000341164.4	Missense_Mutation	SNP	19 : 58490360 - 58490360 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	392	101
KIAA0195	9772	broad.mit.edu	37	17	73492836	73492836	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73492836G>A	ENST00000314256.7	+	25	3663	c.3269G>A	c.(3268-3270)cGt>cAt	p.R1090H	KIAA0195_ENST00000579208.1_Missense_Mutation_p.R741H|KIAA0195_ENST00000375248.5_Missense_Mutation_p.R1100H|AC100787.1_ENST00000579379.1_RNA	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1090					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TATGGCATCCGTAAGTGCTTC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	111	114			NA	NA	17		NA											NA				73492836		2203	4300	6503	SO:0001583	missense				CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728	9772	9772			28983	protein-coding gene	gene with protein product					NA	8724849	Standard	NM_014738	NM_014738	NA	Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.3269G>A	17.37:g.73492836G>A	ENSP00000313885:p.Arg1090His	NA	O75536|Q86XF1	37	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852943	0.71719	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.89681	-2.55;-2.55	6.04	6.04	0.98038	ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.92828	0.7719	L	0.45285	1.41	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.985;1.0	D;D;P;D	0.87578	0.994;0.998;0.604;0.996	D	0.91800	0.5451	10	0.48119	T	0.1	-21.4522	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1100;1100;1090;1090	B4DGC6;C9JL75;Q12767-2;Q12767	.;.;.;K0195_HUMAN	H	1090;1100	ENSP00000313885:R1090H;ENSP00000364397:R1100H	ENSP00000313885:R1090H	R	+	2	0	KIAA0195	71004431	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	8.834000	0.92094	2.873000	0.98535	0.561000	0.74099	CGT	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447303.1		+	ENST00000314256.7	Missense_Mutation	SNP	17 : 73492836 - 73492836 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	768	84
TNC	3371	broad.mit.edu	37	9	117848402	117848402	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117848402G>T	ENST00000341037.4	-	2	1736	c.1608C>A	c.(1606-1608)tgC>tgA	p.C536*	TNC_ENST00000537320.1_Nonsense_Mutation_p.C536*|TNC_ENST00000346706.3_Nonsense_Mutation_p.C536*|TNC_ENST00000340094.3_Nonsense_Mutation_p.C536*|TNC_ENST00000345230.3_Nonsense_Mutation_p.C536*|TNC_ENST00000423613.2_Nonsense_Mutation_p.C536*|TNC_ENST00000350763.4_Nonsense_Mutation_p.C536*|TNC_ENST00000542877.1_Nonsense_Mutation_p.C536*|TNC_ENST00000535648.1_Nonsense_Mutation_p.C536*			P24821	TENA_HUMAN	tenascin C	536	EGF-like 13.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCTGGCCATGGCAGTCATTTG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	65	71			NA	NA	9		NA											NA				117848402		2203	4300	6503	SO:0001587	stop_gained				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982	3371	3371		Fibrinogen C domain containing, Fibronectin type III domain containing	5318	protein-coding gene	gene with protein product	hexabrachion (tenascin)	187380	hexabrachion (tenascin C, cytotactin), deafness, autosomal dominant 56	HXB, DFNA56	NA	1704365, 1707164, 23936043	Standard	NM_002160	NM_002160	NA	Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000341037.4:c.1608C>A	9.37:g.117848402G>T	ENSP00000339553:p.Cys536*	NA	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	37		.	.	.	.	.	.	.	.	.	.	G	39	7.851648	0.98525	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5669	0.61824	0.0709:0.0:0.9291:0.0	.	.	.	.	X	536	.	ENSP00000344400:C536X	C	-	3	2	TNC	116888223	1.000000	0.71417	1.000000	0.80357	0.230000	0.25150	2.341000	0.43983	2.822000	0.97130	0.563000	0.77884	TGC	TNC-011	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000397659.2		-	ENST00000341037.4	Nonsense_Mutation	SNP	9 : 117848402 - 117848402 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	280	17
RALB	5899	broad.mit.edu	37	2	121047235	121047235	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:121047235C>T	ENST00000272519.5	+	4	673	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	RALB_ENST00000420510.1_Missense_Mutation_p.R135W|RALB_ENST00000404963.3_Missense_Mutation_p.R156W|RALB_ENST00000474855.2_Missense_Mutation_p.R157W|RALB_ENST00000470417.1_3'UTR	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	135					apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				CCTAGAGGAGCGGAGGCAGGT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	110	109			NA	NA	2		NA											NA				121047235		2203	4300	6503	SO:0001583	missense				CCDS2131.1	2q14.2	2014-05-09	2013-07-09		ENSG00000144118	ENSG00000144118	5899	5899			9840	protein-coding gene	gene with protein product	ras related GTP binding protein B	179551			NA		Standard	NM_002881	NM_002881	NA	Approved		uc002tmk.3	P11234	OTTHUMG00000131435	ENST00000272519.5:c.403C>T	2.37:g.121047235C>T	ENSP00000272519:p.Arg135Trp	NA		37	CCDS2131.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757807	0.89843	.	.	ENSG00000144118	ENST00000447591;ENST00000474855;ENST00000272519;ENST00000420510;ENST00000404963;ENST00000412383	T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	5.4	4.48	0.54585	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84397	0.5463	L	0.56769	1.78	0.58432	D	0.999997	D;D;D	0.76494	0.998;0.999;0.996	D;D;D	0.68765	0.96;0.948;0.942	D	0.85333	0.1091	10	0.87932	D	0	.	13.5281	0.61607	0.274:0.726:0.0:0.0	.	157;156;135	B4E040;Q6ZS74;P11234	.;.;RALB_HUMAN	W	157;157;135;135;156;135	ENSP00000402866:R157W;ENSP00000438764:R157W;ENSP00000272519:R135W;ENSP00000414224:R135W;ENSP00000384328:R156W;ENSP00000398162:R135W	ENSP00000272519:R135W	R	+	1	2	RALB	120763705	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.589000	0.61006	2.813000	0.96785	0.561000	0.74099	CGG	RALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254232.3		+	ENST00000272519.5	Missense_Mutation	SNP	2 : 121047235 - 121047235 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	619	65
GRM5	2915	broad.mit.edu	37	11	88300355	88300355	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88300355G>A	ENST00000305447.4	-	7	2645	c.2496C>T	c.(2494-2496)aaC>aaT	p.N832N	GRM5_ENST00000393297.1_Silent_p.N832N|GRM5_ENST00000418177.2_Silent_p.N832N|GRM5_ENST00000455756.2_Silent_p.N832N|GRM5_ENST00000305432.5_Silent_p.N832N	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	832					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CGCTGCGCACGTTTCTCTCTG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	108	118			NA	NA	11		NA											NA				88300355		2201	4299	6500	SO:0001819	synonymous_variant			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959	2915	2915		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4597	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 86	604102			NA	7908515	Standard	NM_000842	NM_001143831	NA	Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2496C>T	11.37:g.88300355G>A		NA		37	CCDS44694.1																																																																																			GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000259226.1		-	ENST00000305447.4	Silent	SNP	11 : 88300355 - 88300355 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	389	77
MYO15A	51168	broad.mit.edu	37	17	18041528	18041528	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18041528C>T	ENST00000205890.5	+	17	5313	c.4975C>T	c.(4975-4977)Cgg>Tgg	p.R1659W		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1659	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGGCATCCTGCGGATCCTTGA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	92	92			NA	NA	17		NA											NA				18041528		2198	4294	6492	SO:0001583	missense			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536	51168	51168		Myosins / Myosin superfamily : Class XV	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15	NA	9603736	Standard	NM_016239	NM_016239	NA	Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.4975C>T	17.37:g.18041528C>T	ENSP00000205890:p.Arg1659Trp	NA		37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688329	0.48097	.	.	ENSG00000091536	ENST00000205890	D	0.95205	-3.64	5.64	3.43	0.39272	Myosin head, motor domain (3);	.	.	.	.	D	0.96494	0.8856	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96458	0.9339	9	0.72032	D	0.01	.	11.8686	0.52507	0.2227:0.6798:0.0976:0.0	.	1659	Q9UKN7	MYO15_HUMAN	W	1659	ENSP00000205890:R1659W	ENSP00000205890:R1659W	R	+	1	2	MYO15A	17982253	0.994000	0.37717	1.000000	0.80357	0.645000	0.38454	1.591000	0.36665	1.358000	0.45922	0.655000	0.94253	CGG	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132048.1		+	ENST00000205890.5	Missense_Mutation	SNP	17 : 18041528 - 18041528 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	325	60
AHSG	197	broad.mit.edu	37	3	186334294	186334294	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186334294C>T	ENST00000273784.5	+	3	463	c.387C>T	c.(385-387)taC>taT	p.Y129Y	AHSG_ENST00000411641.2_Silent_p.Y129Y	NM_001622.2	NP_001613.2	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	129	Cystatin fetuin-A-type 1.				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		CCGTGGTATACGCAAAATGTG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	103	109			NA	NA	3		NA											NA				186334294		2203	4300	6503	SO:0001819	synonymous_variant			D67013, M16961	CCDS3278.1	3q27.3	2006-02-22			ENSG00000145192	ENSG00000145192	197	197			349	protein-coding gene	gene with protein product		138680			NA	9322749, 7736783	Standard	NM_001622	NM_001622	NA	Approved	FETUA, A2HS, HSGA	uc003fqk.4	P02765	OTTHUMG00000156605	ENST00000273784.5:c.387C>T	3.37:g.186334294C>T		NA	A8K9N6|B2R7G1|O14961|O14962|Q9P152	37																																																																																				AHSG-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000344762.1		+	ENST00000273784.5	Silent	SNP	3 : 186334294 - 186334294 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	129	36
ASCC3	10973	broad.mit.edu	37	6	101054895	101054895	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:101054895G>A	ENST00000369162.2	-	31	5199	c.4855C>T	c.(4855-4857)Cat>Tat	p.H1619Y		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1619	Helicase C-terminal 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CCAGCATGATGCATTCCTATC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	96	99			NA	NA	6		NA											NA				101054895		2202	4300	6502	SO:0001583	missense			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249	10973	10973			18697	protein-coding gene	gene with protein product	RNA helicase family	614217	helicase, ATP binding 1	HELIC1	NA	10218103	Standard	NM_006828	NM_006828	NA	Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.4855C>T	6.37:g.101054895G>A	ENSP00000358159:p.His1619Tyr	NA	O43738|Q5VTN2|Q9H1I9|Q9NTR0	37	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923127	0.92319	.	.	ENSG00000112249	ENST00000369162	D	0.91843	-2.92	5.83	5.83	0.93111	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.96005	0.8699	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93604	0.6933	10	0.21014	T	0.42	.	20.1099	0.97909	0.0:0.0:1.0:0.0	.	1619	Q8N3C0	HELC1_HUMAN	Y	1619	ENSP00000358159:H1619Y	ENSP00000358159:H1619Y	H	-	1	0	ASCC3	101161616	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	9.693000	0.98684	2.753000	0.94483	0.585000	0.79938	CAT	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041632.2		-	ENST00000369162.2	Missense_Mutation	SNP	6 : 101054895 - 101054895 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	312	56
ING5	84289	broad.mit.edu	37	2	242648728	242648728	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242648728G>T	ENST00000313552.6	+	3	233	c.207G>T	c.(205-207)caG>caT	p.Q69H	ING5_ENST00000406941.1_Missense_Mutation_p.Q69H|ING5_ENST00000482774.1_3'UTR	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	69					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		AGAAGATCCAGAACGCCTACA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	128	129			NA	NA	2		NA											NA				242648728		2203	4296	6499	SO:0001583	missense			AF189286	CCDS33425.1	2q37.3	2013-01-28			ENSG00000168395	ENSG00000168395	84289	84289		Zinc fingers, PHD-type	19421	protein-coding gene	gene with protein product		608525			NA	12750254	Standard	NM_032329	NM_032329	NA	Approved	FLJ23842, p28ING5	uc002wcd.3	Q8WYH8	OTTHUMG00000151501	ENST00000313552.6:c.207G>T	2.37:g.242648728G>T	ENSP00000322142:p.Gln69His	NA	A8K1P3|Q9BS30	37	CCDS33425.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497018	0.85069	.	.	ENSG00000168395	ENST00000313552;ENST00000406941	.	.	.	5.74	5.74	0.90152	Inhibitor of growth protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85526	0.5717	M	0.89287	3.02	0.58432	D	0.999999	D;D	0.89917	1.0;0.997	D;D	0.77557	0.99;0.968	D	0.87282	0.2293	9	0.72032	D	0.01	-2.5677	19.9111	0.97025	0.0:0.0:1.0:0.0	.	69;69	Q8WYH8;B7Z6R2	ING5_HUMAN;.	H	69	.	ENSP00000322142:Q69H	Q	+	3	2	ING5	242297401	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.745000	0.55119	2.722000	0.93159	0.591000	0.81541	CAG	ING5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322901.3		+	ENST00000313552.6	Missense_Mutation	SNP	2 : 242648728 - 242648728 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	870	235
PTPRT	11122	broad.mit.edu	37	20	40980807	40980807	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40980807G>A	ENST00000373198.4	-	10	1914	c.1679C>T	c.(1678-1680)aCc>aTc	p.T560I	PTPRT_ENST00000373187.1_Missense_Mutation_p.T560I|PTPRT_ENST00000373184.1_Missense_Mutation_p.T560I|PTPRT_ENST00000373190.1_Missense_Mutation_p.T560I|PTPRT_ENST00000373193.3_Missense_Mutation_p.T560I|PTPRT_ENST00000373201.1_Missense_Mutation_p.T560I|PTPRT_ENST00000356100.2_Missense_Mutation_p.T560I	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	NA	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGAATAGGTGGTCCCTGGGTA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	88	86			NA	NA	20		NA											NA				40980807		1946	4134	6080	SO:0001583	missense			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090	11122	11122		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	9682	protein-coding gene	gene with protein product		608712			NA	9486824, 9602027	Standard		NM_133170	NA	Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373198.4:c.1679C>T	20.37:g.40980807G>A	ENSP00000362294:p.Thr560Ile	NA	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	37		.	.	.	.	.	.	.	.	.	.	G	31	5.102881	0.94245	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;-0.0;-0.0;-0.0	6.03	6.03	0.97812	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.049111	0.85682	D	0.000000	D	0.84687	0.5527	M	0.91249	3.19	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.989	D	0.86715	0.1938	10	0.87932	D	0	.	20.5541	0.99286	0.0:0.0:1.0:0.0	.	560;560	O14522-1;O14522	.;PTPRT_HUMAN	I	560	ENSP00000362286:T560I;ENSP00000362283:T560I;ENSP00000362289:T560I;ENSP00000348408:T560I;ENSP00000362294:T560I;ENSP00000362280:T560I;ENSP00000362297:T560I	ENSP00000348408:T560I	T	-	2	0	PTPRT	40414221	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.864000	0.98301	0.551000	0.68910	ACC	PTPRT-005	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000080318.2		-	ENST00000373198.4	Missense_Mutation	SNP	20 : 40980807 - 40980807 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	501	94
DLC1	10395	broad.mit.edu	37	8	12946138	12946138	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12946138G>A	ENST00000276297.4	-	16	4559	c.4150C>T	c.(4150-4152)Cgc>Tgc	p.R1384C	DLC1_ENST00000520226.1_Missense_Mutation_p.R873C|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000358919.2_Missense_Mutation_p.R947C|DLC1_ENST00000512044.2_Missense_Mutation_p.R981C	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1384	START.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTAAGTAGGCGCTTTAAGATT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	136	135			NA	NA	8		NA											NA				12946138		2203	4300	6503	SO:0001583	missense			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741	10395	10395		Rho GTPase activating proteins, StAR-related lipid transfer (START) domain containing	2897	protein-coding gene	gene with protein product	StAR-related lipid transfer (START) domain containing 12	604258	deleted in liver cancer 1		NA	9605766, 11214970	Standard	NM_182643, NM_006094	NM_182643	NA	Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.4150C>T	8.37:g.12946138G>A	ENSP00000276297:p.Arg1384Cys	NA	O14868|O43199|Q7Z5R8|Q9C0E0|Q9H7A2	37	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735184	0.89482	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000510318;ENST00000512044;ENST00000520226	T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37	5.05	4.12	0.48240	Lipid-binding START (3);START-like domain (1);	0.000000	0.85682	D	0.000000	D	0.89822	0.6826	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.993	D	0.90999	0.4841	10	0.87932	D	0	.	15.6902	0.77446	0.0:0.0:0.863:0.137	.	1384;981;947	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	C	1384;947;323;981;873	ENSP00000276297:R1384C;ENSP00000351797:R947C;ENSP00000422595:R981C;ENSP00000428028:R873C	ENSP00000276297:R1384C	R	-	1	0	DLC1	12990509	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.562000	0.82300	2.793000	0.96121	0.655000	0.94253	CGC	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207632.2		-	ENST00000276297.4	Missense_Mutation	SNP	8 : 12946138 - 12946138 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	766	135
CEP152	22995	broad.mit.edu	37	15	49089912	49089912	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49089912C>T	ENST00000380950.2	-	4	394	c.207G>A	c.(205-207)gaG>gaA	p.E69E	CEP152_ENST00000399334.3_Silent_p.E69E|CEP152_ENST00000325747.5_Silent_p.E69E	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	69					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	p.E69E(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TCTCCAATTGCTCAGGATGAT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											170	154	159			NA	NA	15		NA											NA				49089912		1939	4136	6075	SO:0001819	synonymous_variant			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20					22995	22995			29298	protein-coding gene	gene with protein product	asterless	613529	microcephaly, primary autosomal recessive 4	MCPH4	NA	14654843, 21131973	Standard	NM_014985	NM_014985	NA	Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.207G>A	15.37:g.49089912C>T		NA	Q17RV1|Q6NTA0	37	CCDS58361.1																																																																																			CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417365.1		-	ENST00000380950.2	Silent	SNP	15 : 49089912 - 49089912 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	576	111
TESC	54997	broad.mit.edu	37	12	117494618	117494618	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117494618C>T	ENST00000335209.7	-	3	388	c.202G>A	c.(202-204)Gac>Aac	p.D68N	TESC_ENST00000392545.4_Missense_Mutation_p.D121N|TESC_ENST00000541210.1_Intron			Q96BS2	TESC_HUMAN	tescalcin	68					negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin	cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle	calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding	p.D121N(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		CACCTGTTGTCGAAGAAGGCA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)											150	116	127			NA	NA	12		NA											NA				117494618		2203	4300	6503	SO:0001583	missense			AF443207	CCDS9183.2, CCDS9183.3, CCDS53835.1	12q24.22	2013-01-10			ENSG00000088992	ENSG00000088992	54997	54997		EF-hand domain containing	26065	protein-coding gene	gene with protein product	calcineurin-like EF hand protein 3	611585			NA	11145610, 11696366, 12809501, 14661968	Standard	NM_017899	NM_017899	NA	Approved	TSC, FLJ20607, CHP3	uc001twh.3	Q96BS2	OTTHUMG00000144168	ENST00000335209.7:c.202G>A	12.37:g.117494618C>T	ENSP00000334785:p.Asp68Asn	NA	Q9NWT9	37	CCDS9183.3	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892513	0.91889	.	.	ENSG00000088992	ENST00000335209;ENST00000392545	T;T	0.54479	0.57;0.57	5.17	5.17	0.71159	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.72803	0.3506	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.72626	-0.4236	10	0.33940	T	0.23	-48.5903	17.4632	0.87625	0.0:1.0:0.0:0.0	.	68	Q96BS2	TESC_HUMAN	N	68;121	ENSP00000334785:D68N;ENSP00000376328:D121N	ENSP00000334785:D68N	D	-	1	0	TESC	115979001	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.745000	0.68672	2.401000	0.81631	0.655000	0.94253	GAC	TESC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000291363.2		-	ENST00000335209.7	Missense_Mutation	SNP	12 : 117494618 - 117494618 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	432	66
KIAA0232	9778	broad.mit.edu	37	4	6863883	6863883	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6863883G>A	ENST00000307659.5	+	7	2229	c.1774G>A	c.(1774-1776)Gag>Aag	p.E592K	KIAA0232_ENST00000425103.1_Missense_Mutation_p.E592K	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	592							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TCAGTTTTGGGAGTGCTGTTC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													177	165	169			NA	NA	4		NA											NA				6863883		1981	4170	6151	SO:0001583	missense			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871	9778	9778			28992	protein-coding gene	gene with protein product					NA	9039502	Standard	NM_014743	NM_014743	NA	Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.1774G>A	4.37:g.6863883G>A	ENSP00000303928:p.Glu592Lys	NA	A7E2D2	37	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.875666	0.72180	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.7	5.7	0.88788	.	0.159069	0.56097	D	0.000028	T	0.61565	0.2357	M	0.64997	1.995	0.80722	D	1	P	0.46142	0.873	B	0.42361	0.385	T	0.66528	-0.5901	9	0.66056	D	0.02	-25.0728	19.8218	0.96599	0.0:0.0:1.0:0.0	.	592	Q92628	K0232_HUMAN	K	592	.	ENSP00000303928:E592K	E	+	1	0	KIAA0232	6914784	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.386000	0.97228	2.678000	0.91216	0.655000	0.94253	GAG	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359102.2		+	ENST00000307659.5	Missense_Mutation	SNP	4 : 6863883 - 6863883 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	536	93
ZNF496	84838	broad.mit.edu	37	1	247463988	247463988	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247463988G>A	ENST00000294753.4	-	9	2061	c.1597C>T	c.(1597-1599)Cgg>Tgg	p.R533W	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.R569W	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	533					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			TGGTCGTGCCGCTGGAAGGCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	86	86			NA	NA	1		NA											NA				247463988		2203	4300	6503	SO:0001583	missense			BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714	84838	84838		Zinc fingers, C2H2-type, -, -, -	23713	protein-coding gene	gene with protein product		613911			NA	12477932	Standard	NM_032752	NM_032752	NA	Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1597C>T	1.37:g.247463988G>A	ENSP00000294753:p.Arg533Trp	NA	Q8TBS2	37	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.017666	0.54576	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.30182	1.54;1.54	4.5	3.58	0.41010	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.288637	0.25001	N	0.033912	T	0.42381	0.1200	L	0.34521	1.04	0.40433	D	0.979968	D;D	0.89917	1.0;1.0	D;D	0.76071	0.984;0.987	T	0.41448	-0.9508	10	0.87932	D	0	-32.0751	11.8952	0.52652	0.0:0.0:0.8243:0.1757	.	569;533	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	W	533;569	ENSP00000294753:R533W;ENSP00000355454:R569W	ENSP00000294753:R533W	R	-	1	2	ZNF496	245530611	0.000000	0.05858	0.963000	0.40424	0.174000	0.22865	-0.211000	0.09332	1.225000	0.43566	-0.182000	0.12963	CGG	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000098655.2		-	ENST00000294753.4	Missense_Mutation	SNP	1 : 247463988 - 247463988 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	675	159
REPS1	85021	broad.mit.edu	37	6	139242254	139242254	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139242254G>T	ENST00000450536.2	-	11	1920	c.1346C>A	c.(1345-1347)gCt>gAt	p.A449D	REPS1_ENST00000367663.4_Missense_Mutation_p.A422D|REPS1_ENST00000409812.2_Missense_Mutation_p.A422D|REPS1_ENST00000258062.5_Missense_Mutation_p.A449D|REPS1_ENST00000415951.2_Missense_Mutation_p.A422D			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	449						coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		ATGAACAATAGCAGTATCCTA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	98	99			NA	NA	6		NA											NA				139242254		2203	4300	6503	SO:0001583	missense				CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597	85021	85021		EF-hand domain containing	15578	protein-coding gene	gene with protein product		614825			NA		Standard		XM_005267177	NA	Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.1346C>A	6.37:g.139242254G>T	ENSP00000392065:p.Ala449Asp	NA	B7ZBZ8|B7ZBZ9|B7ZC00|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	37		.	.	.	.	.	.	.	.	.	.	G	31	5.064595	0.93898	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668;ENST00000530255	T;T;T;T;T;T	0.35605	1.43;1.32;1.3;1.46;1.44;1.33	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.44074	0.1276	L	0.50333	1.59	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.979;0.998	D;D;D;P;D	0.85130	0.983;0.972;0.997;0.718;0.994	T	0.10567	-1.0624	10	0.13853	T	0.58	-16.3376	19.4156	0.94697	0.0:0.0:1.0:0.0	.	449;397;422;449;422	Q96D71-3;B2R7D3;Q96D71-2;Q96D71;E9PMG1	.;.;.;REPS1_HUMAN;.	D	449;422;408;422;449;422;397;36	ENSP00000392065:A449D;ENSP00000356635:A422D;ENSP00000434251:A408D;ENSP00000386699:A422D;ENSP00000258062:A449D;ENSP00000397941:A422D	ENSP00000258062:A449D	A	-	2	0	REPS1	139283947	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.714000	0.98744	2.595000	0.87683	0.557000	0.71058	GCT	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000042447.3		-	ENST00000450536.2	Missense_Mutation	SNP	6 : 139242254 - 139242254 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	58
RALGAPB	57148	broad.mit.edu	37	20	37153514	37153514	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:37153514C>A	ENST00000262879.6	+	11	1997	c.1713C>A	c.(1711-1713)ttC>ttA	p.F571L	RALGAPB_ENST00000397038.1_Missense_Mutation_p.F349L|RALGAPB_ENST00000397040.1_Missense_Mutation_p.F571L|RALGAPB_ENST00000397042.3_Missense_Mutation_p.F571L			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	571					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CTCCTTTGTTCTGCTGTGACT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													298	273	281			NA	NA	20		NA											NA				37153514		2203	4300	6503	SO:0001583	missense			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471	57148	57148			29221	protein-coding gene	gene with protein product			KIAA1219	KIAA1219	NA	19520869	Standard	NM_020336	XM_005260462	NA	Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1713C>A	20.37:g.37153514C>A	ENSP00000262879:p.Phe571Leu	NA	A2A2E8|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	37	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970627	0.92919	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	T;T	0.62639	0.01;0.01	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.72486	0.3466	L	0.39514	1.22	0.80722	D	1	D;P;P;P	0.67145	0.996;0.954;0.954;0.954	D;D;D;D	0.73380	0.98;0.943;0.943;0.943	T	0.67956	-0.5536	10	0.29301	T	0.29	.	19.4189	0.94712	0.0:1.0:0.0:0.0	.	399;571;571;571	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	L	571;571;571;349;571;399	ENSP00000262879:F571L;ENSP00000380233:F571L	ENSP00000262879:F571L	F	+	3	2	RALGAPB	36586928	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.934000	0.63491	2.587000	0.87381	0.561000	0.74099	TTC	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079191.1		+	ENST00000262879.6	Missense_Mutation	SNP	20 : 37153514 - 37153514 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1042	189
BAIAP3	8938	broad.mit.edu	37	16	1397298	1397298	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1397298G>T	ENST00000421665.2	+	28	2856		c.e28-1		BAIAP3_ENST00000426824.3_Splice_Site|BAIAP3_ENST00000562208.1_Splice_Site|BAIAP3_ENST00000324385.5_Splice_Site|BAIAP3_ENST00000397489.1_Splice_Site|BAIAP3_ENST00000568887.1_Splice_Site|BAIAP3_ENST00000397488.2_Splice_Site|BAIAP3_ENST00000564213.1_Splice_Site	NM_001199096.1	NP_001186025.1	O94812	BAIP3_HUMAN	BAI1-associated protein 3	NA					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CCCTGCCCCAGGCCCTGGTCA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	39	39			NA	NA	16		NA											NA				1397298		2198	4299	6497	SO:0001630	splice_region_variant			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516	8938	8938			948	protein-coding gene	gene with protein product		604009			NA	9790924	Standard		NM_003933	NA	Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000421665.2:c.2644-1G>T	16.37:g.1397298G>T		NA	B2RCD7|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	37	CCDS55979.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037427	0.35989	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9418	0.79758	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BAIAP3	1337299	1.000000	0.71417	0.994000	0.49952	0.259000	0.26198	2.661000	0.46758	2.367000	0.80283	0.561000	0.74099	.	BAIAP3-007	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432010.1	Intron	+	ENST00000421665.2	Splice_Site	SNP	16 : 1397298 - 1397298 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	176	11
COL6A3	1293	broad.mit.edu	37	2	238283139	238283139	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238283139G>C	ENST00000295550.4	-	8	4047	c.3595C>G	c.(3595-3597)Cag>Gag	p.Q1199E	COL6A3_ENST00000472056.1_Missense_Mutation_p.Q592E|COL6A3_ENST00000392003.2_Missense_Mutation_p.Q792E|COL6A3_ENST00000409809.1_Missense_Mutation_p.Q993E|COL6A3_ENST00000346358.4_Missense_Mutation_p.Q999E|COL6A3_ENST00000353578.4_Missense_Mutation_p.Q993E|COL6A3_ENST00000347401.3_Missense_Mutation_p.Q998E|COL6A3_ENST00000392004.3_Missense_Mutation_p.Q993E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1199	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GAGATGACCTGTTGGACGGTC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	63	66			NA	NA	2		NA											NA				238283139		2203	4300	6503	SO:0001583	missense			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359	1293	1293		Collagens	2213	protein-coding gene	gene with protein product		120250			NA	1339440, 11992252	Standard	NM_004369	NM_004369	NA	Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3595C>G	2.37:g.238283139G>C	ENSP00000295550:p.Gln1199Glu	NA	Q16501|Q53QF4|Q53QF6	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442636	0.43326	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	T;T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55	4.97	4.97	0.65823	von Willebrand factor, type A (2);	0.000000	0.49916	D	0.000138	T	0.62245	0.2412	L	0.38649	1.16	0.54753	D	0.999981	D;B;P;D;P	0.55172	0.97;0.107;0.594;0.963;0.592	D;B;P;P;B	0.63877	0.919;0.062;0.547;0.867;0.306	T	0.58047	-0.7705	10	0.30854	T	0.27	.	18.6288	0.91352	0.0:0.0:1.0:0.0	.	592;792;993;993;1199	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	E	1199;998;993;592;993;999;993;792	ENSP00000295550:Q1199E;ENSP00000315609:Q998E;ENSP00000315873:Q993E;ENSP00000418285:Q592E;ENSP00000386844:Q993E;ENSP00000295546:Q999E;ENSP00000375861:Q993E;ENSP00000375860:Q792E	ENSP00000295550:Q1199E	Q	-	1	0	COL6A3	237947878	1.000000	0.71417	0.941000	0.38009	0.510000	0.34073	4.218000	0.58554	2.477000	0.83638	0.655000	0.94253	CAG	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000315790.2		-	ENST00000295550.4	Missense_Mutation	SNP	2 : 238283139 - 238283139 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	398	96
ZNF492	57615	broad.mit.edu	37	19	22847667	22847667	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22847667G>A	ENST00000456783.2	+	4	1440	c.1196G>A	c.(1195-1197)gGc>gAc	p.G399D		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GAAGAATGTGGCAAAGCTTTT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	51	50			NA	NA	19		NA											NA				22847667		2147	4262	6409	SO:0001583	missense			AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676	57615	57615		Zinc fingers, C2H2-type	23707	protein-coding gene	gene with protein product			zinc finger protein 115 (Y20)	ZNF115	NA	10819331	Standard	NM_020855	NM_020855	NA	Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1196G>A	19.37:g.22847667G>A	ENSP00000413660:p.Gly399Asp	NA	Q08EI7|Q08EI8	37	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	14.75	2.628231	0.46944	.	.	ENSG00000229676	ENST00000456783	T	0.01430	4.9	1.12	1.12	0.20585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04048	0.0113	L	0.45051	1.395	0.38026	D	0.935016	D	0.89917	1.0	D	0.97110	1.0	T	0.50759	-0.8790	9	0.66056	D	0.02	.	7.4251	0.27094	0.0:0.0:1.0:0.0	.	399	Q9P255	ZN492_HUMAN	D	399	ENSP00000413660:G399D	ENSP00000413660:G399D	G	+	2	0	ZNF492	22639507	0.988000	0.35896	0.076000	0.20297	0.077000	0.17291	2.129000	0.42055	0.269000	0.21961	0.274000	0.19336	GGC	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464581.1		+	ENST00000456783.2	Missense_Mutation	SNP	19 : 22847667 - 22847667 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	319	38
SEPT10	151011	broad.mit.edu	37	2	110323436	110323436	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:110323436C>A	ENST00000356688.4	-	7	1078	c.763G>T	c.(763-765)Gga>Tga	p.G255*	SEPT10_ENST00000468616.1_5'UTR|SEPT10_ENST00000415095.1_Splice_Site_p.G255*|SEPT10_ENST00000397714.2_Splice_Site_p.G232*|SEPT10_ENST00000334001.6_Splice_Site_p.G122*|SEPT10_ENST00000437928.1_Splice_Site_p.G240*|SEPT10_ENST00000397712.2_Splice_Site_p.G255*|SEPT10_ENST00000545389.1_Splice_Site_p.G88*			Q9P0V9	SEP10_HUMAN	septin 10	255					cell cycle|cell division	septin complex	GTP binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						GGCAACTGTCCCTGAAAAAGA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													184	165	171			NA	NA	2		NA											NA				110323436		1922	4118	6040	SO:0001630	splice_region_variant			AF146760	CCDS42726.1, CCDS46383.1	2q13	2013-01-21			ENSG00000186522	ENSG00000186522	151011	151011		Septins	14349	protein-coding gene	gene with protein product	sept1-like	611737			NA	12711328	Standard	NM_144710	NM_144710	NA	Approved	FLJ11619	uc002tew.4	Q9P0V9	OTTHUMG00000154957	ENST00000356688.4:c.763-1G>T	2.37:g.110323436C>A		NA	B3KRQ9|Q86VP5|Q9HAH6	37		.	.	.	.	.	.	.	.	.	.	C	22.4	4.289347	0.80914	.	.	ENSG00000186522	ENST00000352314;ENST00000356688;ENST00000397712;ENST00000397714;ENST00000334001;ENST00000437928;ENST00000545389;ENST00000415095;ENST00000493445;ENST00000423520	.	.	.	5.25	5.25	0.73442	.	0.267610	0.31922	N	0.006845	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	18.7996	0.92010	0.0:1.0:0.0:0.0	.	.	.	.	X	213;255;255;232;122;240;88;255;62;88	.	ENSP00000334234:G122X	G	-	1	0	SEPT10	109680725	1.000000	0.71417	1.000000	0.80357	0.612000	0.37316	7.338000	0.79269	2.600000	0.87896	0.650000	0.86243	GGA	SEPT10-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000337805.1	Nonsense_Mutation	-	ENST00000356688.4	Splice_Site	SNP	2 : 110323436 - 110323436 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	672	58
MEGF8	1954	broad.mit.edu	37	19	42867301	42867301	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42867301C>T	ENST00000334370.4	+	34	6594	c.5959C>T	c.(5959-5961)Cca>Tca	p.P1987S	MEGF8_ENST00000251268.6_Missense_Mutation_p.P2054S	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2054						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ATCATCACCCCCACTGCCCTG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	109	117			NA	NA	19		NA											NA				42867301		2203	4299	6502	SO:0001583	missense			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429	1954	1954			3233	protein-coding gene	gene with protein product	HBV pre s2 binding protein 1	604267	EGF-like-domain, multiple 4, chromosome 19 open reading frame 49	EGFL4, C19orf49	NA	9693030	Standard	NM_001410	NM_001410	NA	Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000334370.4:c.5959C>T	19.37:g.42867301C>T	ENSP00000334219:p.Pro1987Ser	NA	A8KAY0|O75097	37	CCDS12604.2	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250896	0.59212	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.21191	2.02;2.02	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000001	T	0.22589	0.0545	N	0.16790	0.44	0.80722	D	1	B;D	0.57571	0.006;0.98	B;P	0.50617	0.013;0.646	T	0.02307	-1.1179	10	0.49607	T	0.09	-9.6731	17.701	0.88294	0.0:1.0:0.0:0.0	.	2054;1987	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	S	1987;2054	ENSP00000334219:P1987S;ENSP00000251268:P2054S	ENSP00000251268:P2054S	P	+	1	0	MEGF8	47559141	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	5.334000	0.65923	2.556000	0.86216	0.508000	0.49915	CCA	MEGF8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317695.1		+	ENST00000334370.4	Missense_Mutation	SNP	19 : 42867301 - 42867301 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	127	32
PKD1L2	114780	broad.mit.edu	37	16	81248637	81248637	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81248637G>A	ENST00000525539.1	-	0	625				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	NA					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTTGACGTTGGCCCAGCTGCA	0.627		NA									OREG0023964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	20	19			NA	NA	16		NA											NA				81248637		2034	4180	6214					AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473	114780	114780			21715	protein-coding gene	gene with protein product		607894			NA	12782129	Standard		NM_052892	NA	Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126	ENST00000525539.1:	16.37:g.81248637G>A		1204	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	37		.	.	.	.	.	.	.	.	.	.	G	0.007	-2.004989	0.00431	.	.	ENSG00000166473	ENST00000337114	T	0.17691	2.26	4.77	-1.65	0.08291	D-galactoside/L-rhamnose binding SUEL lectin domain (2);	0.791308	0.11216	N	0.587175	T	0.06280	0.0162	.	.	.	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.41342	-0.9514	9	0.02654	T	1	-0.0759	10.4722	0.44644	0.5602:0.0:0.4398:0.0	.	209;209	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	V	209	ENSP00000337397:A209V	ENSP00000337397:A209V	A	-	2	0	PKD1L2	79806138	0.044000	0.20184	0.001000	0.08648	0.018000	0.09664	0.949000	0.29109	-0.709000	0.05008	-0.781000	0.03364	GCC	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	NA	polymorphic_pseudogene	OTTHUMT00000387972.2		-	ENST00000525539.1	RNA	SNP	16 : 81248637 - 81248637 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	71	12
LAMC2	3918	broad.mit.edu	37	1	183200178	183200178	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183200178C>T	ENST00000264144.4	+	12	1862	c.1797C>T	c.(1795-1797)ggC>ggT	p.G599G	LAMC2_ENST00000493293.1_Silent_p.G599G	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	599	Laminin EGF-like 8; truncated.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GATTTGGTGGCCCCAACTGTG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													199	174	183			NA	NA	1		NA											NA				183200178		2203	4300	6503	SO:0001819	synonymous_variant			Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085	3918	3918		Laminins	6493	protein-coding gene	gene with protein product		150292	laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))	EBR2, LAMB2T, LAMNB2, EBR2A	NA	1383240	Standard	NM_005562	NM_005562	NA	Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.1797C>T	1.37:g.183200178C>T		NA	Q02536|Q02537|Q13752|Q14941|Q14DF7|Q5VYE8	37	CCDS1352.1																																																																																			LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086258.1		+	ENST00000264144.4	Silent	SNP	1 : 183200178 - 183200178 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	423	66
TXNDC2	84203	broad.mit.edu	37	18	9886595	9886595	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9886595T>C	ENST00000306084.6	+	2	318	c.119T>C	c.(118-120)tTa>tCa	p.L40S	TXNDC2_ENST00000536353.2_5'UTR|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000357775.5_5'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	40					cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GAAAGCTCATTACTAGTCCTG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	50	50			NA	NA	18		NA											NA				9886595		2203	4300	6503	SO:0001583	missense			AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454	NA	84203			16470	protein-coding gene	gene with protein product	sperm-specific thioredoxin 1				NA	11230166, 11399755	Standard		NM_001098529	NA	Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.119T>C	18.37:g.9886595T>C	ENSP00000304908:p.Leu40Ser	NA	Q8N7U4|Q96RX3|Q9H0L8	37	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	T	10.12	1.261827	0.23051	.	.	ENSG00000168454	ENST00000306084;ENST00000426718	T	0.16897	2.31	3.99	2.8	0.32819	.	.	.	.	.	T	0.17704	0.0425	L	0.32530	0.975	0.09310	N	0.999997	D	0.62365	0.991	P	0.51297	0.665	T	0.08827	-1.0703	8	.	.	.	-4.0932	6.4832	0.22075	0.0:0.1115:0.0:0.8885	.	40	Q86VQ3	TXND2_HUMAN	S	40	ENSP00000304908:L40S	.	L	+	2	0	TXNDC2	9876595	0.041000	0.20044	0.027000	0.17364	0.031000	0.12232	1.945000	0.40273	0.859000	0.35456	0.460000	0.39030	TTA	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254487.1		+	ENST00000306084.6	Missense_Mutation	SNP	18 : 9886595 - 9886595 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	298	59
GLTSCR2	29997	broad.mit.edu	37	19	48255822	48255822	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48255822G>A	ENST00000246802.5	+	6	761	c.723G>A	c.(721-723)gcG>gcA	p.A241A	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	241						nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		TGGAGGTGGCGCCTGCCGGAG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(58;613 1041 9473 10089 15241)							NA				0													76	67	70			NA	NA	19		NA											NA				48255822		2203	4300	6503	SO:0001819	synonymous_variant			AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373	29997	29997			4333	protein-coding gene	gene with protein product		605691			NA	10708517, 16971513, 17657248	Standard	NM_015710	NM_015710	NA	Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.723G>A	19.37:g.48255822G>A		NA	Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	37	CCDS12705.1																																																																																			GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464870.1		+	ENST00000246802.5	Silent	SNP	19 : 48255822 - 48255822 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	441	80
MCHR1	2847	broad.mit.edu	37	22	41077050	41077050	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41077050G>A	ENST00000381433.2	+	2	560	c.387G>A	c.(385-387)acG>acA	p.T129T	MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000249016.4_Silent_p.T129T			Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	129					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						GGAACTCCACGGTCATCTTCG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	128	139			NA	NA	22		NA											NA				41077050		2203	4300	6503	SO:0001819	synonymous_variant				CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285	2847	2847		GPCR / Class A : MCH receptors	4479	protein-coding gene	gene with protein product		601751	G protein-coupled receptor 24	GPR24	NA		Standard	NM_005297	XM_005261581	NA	Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000381433.2:c.387G>A	22.37:g.41077050G>A		NA	B2RBX6|Q5R3J1|Q96S47|Q9BV08	37																																																																																				MCHR1-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000317144.1		+	ENST00000381433.2	Silent	SNP	22 : 41077050 - 41077050 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	75
HCN1	348980	broad.mit.edu	37	5	45303919	45303919	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:45303919C>T	ENST00000303230.4	-	6	1457	c.1400G>A	c.(1399-1401)cGg>cAg	p.R467Q		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	467						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CACCAGTTTCCGACAGTTGAA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	105	104			NA	NA	5		NA											NA				45303919		2203	4300	6503	SO:0001583	missense			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588	348980	348980		Voltage-gated ion channels / Cyclic nucleotide-regulated channels	4845	protein-coding gene	gene with protein product		602780		BCNG1	NA	9405696, 9630217, 16382102	Standard	NM_021072	NM_021072	NA	Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1400G>A	5.37:g.45303919C>T	ENSP00000307342:p.Arg467Gln	NA		37	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	34	5.398180	0.96030	.	.	ENSG00000164588	ENST00000303230	D	0.96745	-4.11	5.62	5.62	0.85841	Cyclic nucleotide-binding-like (1);	0.000000	0.64402	D	0.000010	D	0.94798	0.8320	M	0.71036	2.16	0.80722	D	1	D	0.52996	0.957	B	0.33846	0.171	D	0.95524	0.8597	10	0.87932	D	0	.	20.024	0.97514	0.0:1.0:0.0:0.0	.	467	O60741	HCN1_HUMAN	Q	467	ENSP00000307342:R467Q	ENSP00000307342:R467Q	R	-	2	0	HCN1	45339676	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.776000	0.85560	2.809000	0.96659	0.655000	0.94253	CGG	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253847.1		-	ENST00000303230.4	Missense_Mutation	SNP	5 : 45303919 - 45303919 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	662	111
TNS1	7145	broad.mit.edu	37	2	218749800	218749800	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:218749800C>T	ENST00000419504.1	-	13	990	c.829G>A	c.(829-831)Ggg>Agg	p.G277R	TNS1_ENST00000310858.6_Missense_Mutation_p.G308R|TNS1_ENST00000171887.4_Missense_Mutation_p.G277R|TNS1_ENST00000430930.1_Missense_Mutation_p.G277R			Q9HBL0	TENS1_HUMAN	tensin 1	277	C2 tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AAGACAACCCCCAGGTCATGG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	107	115			NA	NA	2		NA											NA				218749800		2203	4300	6503	SO:0001583	missense			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308	7145	7145		Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs, SH2 domain containing	11973	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 155	600076	tensin, matrix-remodelling associated 6	TNS, MXRA6	NA		Standard	NM_022648	NM_022648	NA	Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000419504.1:c.829G>A	2.37:g.218749800C>T	ENSP00000408724:p.Gly277Arg	NA	Q4ZG71	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.08|11.08	1.533073|1.533073	0.27387|0.27387	.|.	.|.	ENSG00000079308|ENSG00000079308	ENST00000453356|ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903;ENST00000413554;ENST00000310858	.|D;D;D;D;D;D	.|0.84146	.|-1.81;-1.81;-1.81;-1.81;-1.81;-1.81	4.83|4.83	3.96|3.96	0.45880|0.45880	.|Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	.|.	.|.	.|.	.|.	D|D	0.83238|0.83238	0.5211|0.5211	N|N	0.16130|0.16130	0.375|0.375	0.43977|0.43977	D|D	0.996663|0.996663	.|P;B;B;D;D;D	.|0.69078	.|0.9;0.036;0.02;0.994;0.991;0.997	.|P;B;B;D;D;D	.|0.69824	.|0.493;0.105;0.038;0.966;0.93;0.955	T|T	0.79356|0.79356	-0.1837|-0.1837	5|9	.|0.17369	.|T	.|0.5	.|.	13.0506|13.0506	0.58952|0.58952	0.0:0.9215:0.0:0.0785|0.0:0.9215:0.0:0.0785	.|.	.|277;331;308;277;277;277	.|B2RU35;A1L0S7;Q6IPI5;Q9HBL0;E9PGF5;E9PF55	.|.;.;.;TENS1_HUMAN;.;.	E|R	52|277;277;277;402;345;308	.|ENSP00000171887:G277R;ENSP00000408724:G277R;ENSP00000406016:G277R;ENSP00000405460:G402R;ENSP00000400383:G345R;ENSP00000308321:G308R	.|ENSP00000171887:G277R	G|G	-|-	2|1	0|0	TNS1|TNS1	218458045|218458045	0.467000|0.467000	0.25831|0.25831	0.998000|0.998000	0.56505|0.56505	0.986000|0.986000	0.74619|0.74619	2.458000|2.458000	0.45014|0.45014	1.249000|1.249000	0.43950|0.43950	0.563000|0.563000	0.77884|0.77884	GGG|GGG	TNS1-004	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000339207.1		-	ENST00000419504.1	Missense_Mutation	SNP	2 : 218749800 - 218749800 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	413	82
LRSAM1	90678	broad.mit.edu	37	9	130230041	130230041	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130230041C>A	ENST00000323301.4	+	9	1155	c.551C>A	c.(550-552)gCc>gAc	p.A184D	LRSAM1_ENST00000300417.6_Missense_Mutation_p.A184D|LRSAM1_ENST00000373322.1_Missense_Mutation_p.A184D|LRSAM1_ENST00000373324.4_Missense_Mutation_p.A184D	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	184					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						GACGCCTCGGCCATGGTCTAC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	58	67			NA	NA	9		NA											NA				130230041		2203	4300	6503	SO:0001583	missense			AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356	90678	90678		Sterile alpha motif (SAM) domain containing	25135	protein-coding gene	gene with protein product		610933			NA	12975309	Standard	NM_138361	NM_001005373	NA	Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.551C>A	9.37:g.130230041C>A	ENSP00000322937:p.Ala184Asp	NA	Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	37	CCDS6873.1	.	.	.	.	.	.	.	.	.	.	C	7.081	0.570305	0.13560	.	.	ENSG00000148356	ENST00000300417;ENST00000373324;ENST00000323301;ENST00000373322	T;T;T;T	0.76448	0.7;-1.02;0.7;0.7	5.46	3.43	0.39272	.	0.945370	0.09009	N	0.861813	T	0.70894	0.3276	L	0.36672	1.1	0.31744	N	0.635413	B;B	0.20988	0.05;0.03	B;B	0.29176	0.099;0.022	T	0.65553	-0.6140	10	0.25751	T	0.34	-1.6772	11.3735	0.49713	0.0:0.6447:0.3553:0.0	.	184;184	Q6UWE0-2;Q6UWE0	.;LRSM1_HUMAN	D	184	ENSP00000300417:A184D;ENSP00000362421:A184D;ENSP00000322937:A184D;ENSP00000362419:A184D	ENSP00000300417:A184D	A	+	2	0	LRSAM1	129269862	0.940000	0.31905	0.781000	0.31783	0.142000	0.21351	1.837000	0.39201	1.252000	0.44001	0.561000	0.74099	GCC	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054164.1		+	ENST00000323301.4	Missense_Mutation	SNP	9 : 130230041 - 130230041 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	109	32
OR1K1	392392	broad.mit.edu	37	9	125563013	125563013	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125563013C>T	ENST00000277309.2	+	1	644	c.612C>T	c.(610-612)ggC>ggT	p.G204G		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						TCACCGAGGGCGCCGCAGTGG	0.637		NA											C	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	9e-04	SNP								NA				0													80	68	72			NA	NA	9		NA											NA				125563013		2203	4300	6503	SO:0001819	synonymous_variant			AL359512	CCDS35132.1	9q33	2013-09-20			ENSG00000165204	ENSG00000165204	NA	392392		GPCR / Class A : Olfactory receptors	8212	protein-coding gene	gene with protein product					NA		Standard		NM_080859	NA	Approved	hg99, MNAB	uc011lze.2	Q8NGR3	OTTHUMG00000020625	ENST00000277309.2:c.612C>T	9.37:g.125563013C>T		NA	B9EH41|Q4VXB7|Q96R23	37	CCDS35132.1																																																																																			OR1K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053958.1		+	ENST00000277309.2	Silent	SNP	9 : 125563013 - 125563013 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	440	89
ST6GALNAC6	30815	broad.mit.edu	37	9	130656830	130656830	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130656830C>T	ENST00000373142.1	-	4	430	c.258G>A	c.(256-258)tgG>tgA	p.W86*	ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373146.1_Nonsense_Mutation_p.W86*|ST6GALNAC6_ENST00000373144.3_Nonsense_Mutation_p.W52*|ST6GALNAC6_ENST00000542456.1_Missense_Mutation_p.G22E|ST6GALNAC6_ENST00000373141.1_Nonsense_Mutation_p.W52*|ST6GALNAC6_ENST00000291839.5_Nonsense_Mutation_p.W86*	NM_013443.3	NP_038471.2	Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	86					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CAGTGATGCTCCACTTCTTGA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	104	106			NA	NA	9		NA											NA				130656830		2203	4300	6503	SO:0001587	stop_gained			BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408	30815	30815		Sialyltransferases	23364	protein-coding gene	gene with protein product		610135	sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F	SIAT7F	NA	12668675	Standard	NM_013443	XM_005251952	NA	Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373142.1:c.258G>A	9.37:g.130656830C>T	ENSP00000362235:p.Trp86*	NA	B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.412320|5.412320	0.96072|0.96072	.|.	.|.	ENSG00000160408|ENSG00000160408	ENST00000542456|ENST00000373146;ENST00000373141;ENST00000373142;ENST00000373144;ENST00000291839;ENST00000447681	T|.	0.47177|.	0.85|.	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	.|0.117745	.|0.64402	.|D	.|0.000007	T|.	0.42200|.	0.1192|.	.|.	.|.	.|.	0.34597|0.34597	D|D	0.716131|0.716131	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|.	0.43065|.	-0.9414|.	8|.	0.45353|0.07175	T|T	0.12|0.84	-12.0278|-12.0278	16.0654|16.0654	0.80867|0.80867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	22|.	B4DU80|.	.|.	E|X	22|86;52;86;52;86;52	ENSP00000438109:G22E|.	ENSP00000438109:G22E|ENSP00000291839:W86X	G|W	-|-	2|3	0|0	ST6GALNAC6|ST6GALNAC6	129696651|129696651	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.833000|0.833000	0.47200|0.47200	4.981000|4.981000	0.63819|0.63819	2.390000|2.390000	0.81377|0.81377	0.650000|0.650000	0.86243|0.86243	GGA|TGG	ST6GALNAC6-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000054277.1		-	ENST00000373142.1	Nonsense_Mutation	SNP	9 : 130656830 - 130656830 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	658	105
PLEKHA8	84725	broad.mit.edu	37	7	30100541	30100541	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30100541C>A	ENST00000396259.1	+	10	1403	c.1081C>A	c.(1081-1083)Ctt>Att	p.L361I	PLEKHA8_ENST00000449726.1_Missense_Mutation_p.L361I|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.L361I|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.L361I			Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	361				MDLVGNI -> DGSCWKY (in Ref. 4; AAG48267).	protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						TAAGATGGATCTTGTTGGAAA	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	113	114			NA	NA	7		NA											NA				30100541		2203	4300	6503	SO:0001583	missense			BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086	84725	84725		Pleckstrin homology (PH) domain containing	30037	protein-coding gene	gene with protein product		608639			NA	11001876	Standard	NM_032639	NM_001197027	NA	Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000396259.1:c.1081C>A	7.37:g.30100541C>A	ENSP00000379558:p.Leu361Ile	NA	Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	37		.	.	.	.	.	.	.	.	.	.	C	9.743	1.165487	0.21538	.	.	ENSG00000106086	ENST00000258679;ENST00000449726;ENST00000396257;ENST00000396259;ENST00000440706	.	.	.	4.91	4.91	0.64330	Glycolipid transfer protein domain (3);	0.056844	0.64402	D	0.000001	T	0.33059	0.0850	N	0.11818	0.18	0.27784	N	0.943051	B;P;D;P	0.67145	0.211;0.885;0.996;0.846	B;P;D;B	0.75484	0.066;0.589;0.986;0.41	T	0.18116	-1.0347	9	0.09084	T	0.74	-24.9016	7.9807	0.30181	0.0:0.8245:0.0:0.1755	.	361;361;361;361	Q96JA3-2;Q96JA3;Q96JA3-3;B4DH00	.;PKHA8_HUMAN;.;.	I	361;361;361;361;387	.	ENSP00000258679:L361I	L	+	1	0	PLEKHA8	30067066	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.348000	0.59379	2.410000	0.81850	0.467000	0.42956	CTT	PLEKHA8-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000214984.1		+	ENST00000396259.1	Missense_Mutation	SNP	7 : 30100541 - 30100541 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	574	106
ZNF536	9745	broad.mit.edu	37	19	30935229	30935229	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30935229C>T	ENST00000355537.3	+	2	907	c.760C>T	c.(760-762)Ccg>Tcg	p.P254S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			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)					CGTGGCCCACCCGGTGCCCTC	0.736		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													5	7	6			NA	NA	19		NA											NA				30935229		1995	3958	5953	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.760C>T	19.37:g.30935229C>T	ENSP00000347730:p.Pro254Ser	NA	A2RU18	37	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	8.920	0.960870	0.18583	.	.	ENSG00000198597	ENST00000355537	T	0.09073	3.02	5.7	5.7	0.88788	.	0.051124	0.85682	D	0.000000	T	0.08802	0.0218	L	0.32530	0.975	0.45979	D	0.998794	P;P	0.48294	0.666;0.908	B;P	0.46585	0.162;0.521	T	0.11036	-1.0604	10	0.05959	T	0.93	-30.3078	14.6357	0.68689	0.1456:0.8544:0.0:0.0	.	254;254	A7E228;O15090	.;ZN536_HUMAN	S	254	ENSP00000347730:P254S	ENSP00000347730:P254S	P	+	1	0	ZNF536	35627069	1.000000	0.71417	0.958000	0.39756	0.891000	0.51852	1.929000	0.40114	2.702000	0.92279	0.491000	0.48974	CCG	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459667.2		+	ENST00000355537.3	Missense_Mutation	SNP	19 : 30935229 - 30935229 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	135	31
GPRC5D	55507	broad.mit.edu	37	12	13102917	13102917	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13102917A>G	ENST00000228887.1	-	1	401	c.402T>C	c.(400-402)atT>atC	p.I134I	RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA|GPRC5D_ENST00000396333.3_Silent_p.I134I	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, class C, group 5, member D	134						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GACTGCAACCAATAGCAATGC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	95	100			NA	NA	12		NA											NA				13102917		2203	4300	6503	SO:0001819	synonymous_variant			AF209923	CCDS8658.1	12p13.3	2014-01-30	2014-01-30		ENSG00000111291	ENSG00000111291	55507	55507		GPCR / Class C : Orphans	13310	protein-coding gene	gene with protein product		607437	G protein-coupled receptor, family C, group 5, member D		NA		Standard		XM_005253421	NA	Approved		uc010shp.2	Q9NZD1	OTTHUMG00000168711	ENST00000228887.1:c.402T>C	12.37:g.13102917A>G		NA	Q3KNV3|Q7Z5J9|Q8TDS6	37	CCDS8658.1																																																																																			GPRC5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400687.1		-	ENST00000228887.1	Silent	SNP	12 : 13102917 - 13102917 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	380	73
SACS	26278	broad.mit.edu	37	13	23929587	23929587	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23929587C>A	ENST00000382292.3	-	7	1437	c.1164G>T	c.(1162-1164)caG>caT	p.Q388H	SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382298.3_Missense_Mutation_p.Q388H			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	388					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGATGTTTTCTGTGCATCCT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	123	123			NA	NA	13		NA											NA				23929587		2203	4300	6503	SO:0001583	missense			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835	26278	26278		Heat shock proteins / DNAJ (HSP40)	10519	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 138	604490	spastic ataxia of Charlevoix-Saguenay (sacsin)		NA	10610707, 15057823, 21726565	Standard	NM_014363	NM_001278055	NA	Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.1164G>T	13.37:g.23929587C>A	ENSP00000371729:p.Gln388His	NA	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	37	CCDS9300.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	9.373|9.373	1.071071|1.071071	0.20147|0.20147	.|.	.|.	ENSG00000151835|ENSG00000151835	ENST00000455470|ENST00000382292;ENST00000382298;ENST00000423156	.|D;D;T	.|0.87029	.|-2.2;-2.2;-1.13	5.72|5.72	-4.06|-4.06	0.03986|0.03986	.|.	.|0.339875	.|0.31872	.|N	.|0.006940	.|D	.|0.86167	.|0.5868	M|M	0.62723|0.62723	1.935|1.935	0.20764|0.20764	N|N	0.999855|0.999855	.|P;B;B	.|0.51057	.|0.941;0.129;0.007	.|P;B;B	.|0.53809	.|0.735;0.138;0.031	.|T	.|0.81057	.|-0.1105	.|10	.|0.54805	.|T	.|0.06	.|.	8.6511|8.6511	0.34035|0.34035	0.0:0.3169:0.1801:0.503|0.0:0.3169:0.1801:0.503	.|.	.|287;175;388	.|B2REB1;E9PAL4;Q9NZJ4	.|.;.;SACS_HUMAN	X|H	288|388;388;12	.|ENSP00000371729:Q388H;ENSP00000371735:Q388H;ENSP00000390925:Q12H	.|ENSP00000371729:Q388H	E|Q	-|-	1|3	0|2	SACS|SACS	22827587|22827587	0.276000|0.276000	0.24211|0.24211	0.000000|0.000000	0.03702|0.03702	0.013000|0.013000	0.08279|0.08279	-0.005000|-0.005000	0.12855|0.12855	-0.905000|-0.905000	0.03871|0.03871	-0.786000|-0.786000	0.03341|0.03341	GAA|CAG	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044148.3		-	ENST00000382292.3	Missense_Mutation	SNP	13 : 23929587 - 23929587 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	360	57
CAPNS1	826	broad.mit.edu	37	19	36636953	36636953	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36636953G>A	ENST00000246533.3	+	8	1199	c.601G>A	c.(601-603)Gca>Aca	p.A201T	CAPNS1_ENST00000590874.1_Missense_Mutation_p.A171T|CAPNS1_ENST00000589146.1_Missense_Mutation_p.A27T|CAPNS1_ENST00000588815.1_Missense_Mutation_p.A201T|CAPNS1_ENST00000587718.1_Missense_Mutation_p.A201T|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000588780.1_Missense_Mutation_p.A211T	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	201	EF-hand 3.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTTTGAGGCAGCAGGTATGGC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(129;1541 1691 5780 18353 34150)							NA				0													160	157	158			NA	NA	19		NA											NA				36636953		2203	4300	6503	SO:0001583	missense			X04106	CCDS12489.1	19q13.1	2013-01-10		2001-08-10	ENSG00000126247	ENSG00000126247	826	826	3.4.22.52	EF-hand domain containing	1481	protein-coding gene	gene with protein product		114170		CAPN4	NA	3024120, 3016651	Standard		NM_001003962	NA	Approved	CANP, CANPS, 30K, CDPS	uc002odj.3	P04632		ENST00000246533.3:c.601G>A	19.37:g.36636953G>A	ENSP00000246533:p.Ala201Thr	NA	A8K0P1|Q8WTX3|Q96EW0	37	CCDS12489.1	.	.	.	.	.	.	.	.	.	.	g	22.7	4.324394	0.81580	.	.	ENSG00000126247	ENST00000246533	T	0.47869	0.83	5.19	5.19	0.71726	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.69187	0.3083	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72494	-0.4276	10	0.72032	D	0.01	.	16.5532	0.84477	0.0:0.0:1.0:0.0	.	201	P04632	CPNS1_HUMAN	T	201	ENSP00000246533:A201T	ENSP00000246533:A201T	A	+	1	0	CAPNS1	41328793	1.000000	0.71417	1.000000	0.80357	0.367000	0.29736	8.821000	0.92009	2.576000	0.86940	0.561000	0.74099	GCA	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457411.2		+	ENST00000246533.3	Missense_Mutation	SNP	19 : 36636953 - 36636953 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1210	222
TIFA	92610	broad.mit.edu	37	4	113199274	113199274	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113199274C>T	ENST00000361717.3	-	2	580	c.299G>A	c.(298-300)aGc>aAc	p.S100N	TIFA_ENST00000500655.2_Missense_Mutation_p.S100N	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain	NA	FHA.						protein binding			breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		CAGCTCTCTGCTGTCCACGAT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	43	43			NA	NA	4		NA											NA				113199274		2203	4299	6502	SO:0001583	missense			BC008294	CCDS34051.1	4q25	2008-03-17				ENSG00000145365	92610	92610			19075	protein-coding gene	gene with protein product	TRAF2 binding protein, TRAF6 binding protein	609028			NA	1179819	Standard	NM_052864	NM_052864	NA	Approved	MGC20791, T2BP, T6BP, TIFAA	uc003ial.3	Q96CG3		ENST00000361717.3:c.299G>A	4.37:g.113199274C>T	ENSP00000354911:p.Ser100Asn	NA		37	CCDS34051.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.057156	0.00390	.	.	ENSG00000145365	ENST00000361717;ENST00000500655	T;T	0.33216	1.42;1.42	5.79	-1.66	0.08265	Forkhead-associated (FHA) domain (4);	0.612544	0.19210	N	0.119945	T	0.04998	0.0134	N	0.00104	-2.125	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41179	-0.9523	10	0.02654	T	1	-3.6976	11.9285	0.52833	0.0:0.2501:0.0:0.7499	.	100	Q96CG3	TIFA_HUMAN	N	100	ENSP00000354911:S100N;ENSP00000424231:S100N	ENSP00000354911:S100N	S	-	2	0	TIFA	113418723	0.232000	0.23762	0.014000	0.15608	0.021000	0.10359	0.539000	0.23175	-0.544000	0.06232	-0.150000	0.13652	AGC	TIFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363647.2		-	ENST00000361717.3	Missense_Mutation	SNP	4 : 113199274 - 113199274 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	277	47
AMER1	139285	broad.mit.edu	37	X	63411844	63411844	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:63411844T>C	ENST00000330258.3	-	2	1595	c.1323A>G	c.(1321-1323)ccA>ccG	p.P441P	AMER1_ENST00000403336.1_Silent_p.P441P|AMER1_ENST00000374869.3_Silent_p.P441P	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1	NA								p.0?(67)			NA						AAGACCTAACTGGGTCAAGGA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)											162	124	137			NA	NA	X		NA											NA				63411844		2203	4300	6503	SO:0001819	synonymous_variant			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675	139285	139285		-	26837	protein-coding gene	gene with protein product	Wilms Tumor on the X, adenomatous polyposis coli membrane recruitment 1	300647	family with sequence similarity 123B	FAM123B	NA	21304492, 21498506, 20843316	Standard	NM_152424	NM_152424	NA	Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.1323A>G	X.37:g.63411844T>C		NA		37	CCDS14377.2																																																																																			AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316584.1		-	ENST00000330258.3	Silent	SNP	X : 63411844 - 63411844 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	96
COL27A1	85301	broad.mit.edu	37	9	117002747	117002747	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117002747C>T	ENST00000356083.3	+	21	3206	c.2815C>T	c.(2815-2817)Cgt>Tgt	p.R939C		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	939	Collagen-like 6.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCCGGGACCCCGTGGGCAGCT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG	0,4406		0,0,2203	70	80	76		2815	0	0.9	9		76	1,8599	1.2+/-3.3	0,1,4299	yes	missense	COL27A1	NM_032888.2	180	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	939/1861	117002747	1,13005	2203	4300	6503	SO:0001583	missense			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739	85301	85301		Collagens	22986	protein-coding gene	gene with protein product		608461			NA	12766169	Standard	NM_032888	NM_032888	NA	Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.2815C>T	9.37:g.117002747C>T	ENSP00000348385:p.Arg939Cys	NA	Q66K43|Q96JF7	37	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.906833	0.52333	0.0	1.16E-4	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.93547	-3.24	5.91	0.00205	0.14048	.	.	.	.	.	D	0.91855	0.7422	M	0.88704	2.975	0.40930	D	0.984383	B	0.11235	0.004	B	0.11329	0.006	D	0.85687	0.1304	9	0.56958	D	0.05	.	3.6787	0.08302	0.4976:0.2923:0.126:0.0841	.	939	Q8IZC6	CORA1_HUMAN	C	939	ENSP00000348385:R939C	ENSP00000348385:R939C	R	+	1	0	COL27A1	116042568	0.873000	0.30073	0.948000	0.38648	0.996000	0.88848	1.396000	0.34531	0.070000	0.16634	-0.140000	0.14226	CGT	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053763.1		+	ENST00000356083.3	Missense_Mutation	SNP	9 : 117002747 - 117002747 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	906	202
C6orf15	29113	broad.mit.edu	37	6	31080049	31080049	+	Silent	SNP	G	G	A	rs145694102		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31080049G>A	ENST00000259870.3	-	2	90	c.87C>T	c.(85-87)atC>atT	p.I29I		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	29										endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						CCACAACACCGATGCTCCGGG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4276		0,0,2138	87	104	98		87	1.9	0.2	6	dbSNP_134	98	2,8512		0,2,4255	no	coding-synonymous	C6orf15	NM_014070.2		0,2,6393	AA,AG,GG	NA	0.0235,0.0,0.0156		29/326	31080049	2,12788	2138	4257	6395	SO:0001819	synonymous_variant			AB031481	CCDS4693.1	6p21	2011-12-12			ENSG00000204542	ENSG00000204542	29113	29113			13927	protein-coding gene	gene with protein product		611401			NA		Standard	NM_014070	NM_014070	NA	Approved	STG	uc003nsk.1	Q6UXA7	OTTHUMG00000031111	ENST00000259870.3:c.87C>T	6.37:g.31080049G>A		NA	B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	37	CCDS4693.1																																																																																			C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076184.2		-	ENST00000259870.3	Silent	SNP	6 : 31080049 - 31080049 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	372	77
VCAN	1462	broad.mit.edu	37	5	82779357	82779357	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82779357G>T	ENST00000265077.3	+	2	585	c.20G>T	c.(19-21)aGc>aTc	p.S7I	VCAN_ENST00000513984.1_Missense_Mutation_p.S7I|VCAN_ENST00000512590.2_5'UTR|VCAN_ENST00000502527.2_Missense_Mutation_p.S7I|VCAN_ENST00000343200.5_Missense_Mutation_p.S7I|VCAN_ENST00000342785.4_Missense_Mutation_p.S7I	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	7					cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AATATAAAGAGCATCTTATGG	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	117	119			NA	NA	5		NA											NA				82779357		2203	4300	6503	SO:0001583	missense			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427	1462	1462		Immunoglobulin superfamily / V-set domain containing, Proteoglycans / Extracellular Matrix : Hyalectans	2464	protein-coding gene	gene with protein product	versican proteoglycan	118661	chondroitin sulfate proteoglycan 2	CSPG2	NA	1478664, 21063030	Standard	NM_004385	NM_004385	NA	Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.20G>T	5.37:g.82779357G>T	ENSP00000265077:p.Ser7Ile	NA	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824873	0.71143	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000513960;ENST00000513984;ENST00000502527	D;D;D;T;T;D	0.86097	-1.99;-1.92;-2.07;3.23;2.94;-1.89	5.35	4.45	0.53987	.	0.194776	0.36134	N	0.002767	D	0.87641	0.6228	L	0.60455	1.87	0.23559	N	0.997417	D;B;P;D;B	0.58970	0.984;0.01;0.728;0.981;0.167	P;B;B;P;B	0.58721	0.844;0.009;0.25;0.716;0.042	T	0.79037	-0.1967	10	0.22706	T	0.39	.	12.4398	0.55619	0.0:0.0:0.8321:0.1679	.	7;7;7;7;7	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	I	7	ENSP00000265077:S7I;ENSP00000340062:S7I;ENSP00000342768:S7I;ENSP00000426251:S7I;ENSP00000426715:S7I;ENSP00000421362:S7I	ENSP00000265077:S7I	S	+	2	0	VCAN	82815113	1.000000	0.71417	0.980000	0.43619	0.768000	0.43524	2.325000	0.43840	1.182000	0.42928	0.591000	0.81541	AGC	VCAN-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254092.3		+	ENST00000265077.3	Missense_Mutation	SNP	5 : 82779357 - 82779357 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	247	39
CD9	928	broad.mit.edu	37	12	6334663	6334663	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6334663G>A	ENST00000382515.2	+	0	249				CD9_ENST00000009180.4_Silent_p.E46E|CD9_ENST00000481267.1_3'UTR|CD9_ENST00000382518.1_Silent_p.E46E			P21926	CD9_HUMAN	CD9 molecule	NA					cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation	integral to plasma membrane|platelet alpha granule membrane				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	8						GCATCTTCGAGCAAGAAACTA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	114	118			NA	NA	12		NA											NA				6334663		2203	4300	6503	SO:0001623	5_prime_UTR_variant			M38690	CCDS8540.1	12p13	2013-02-14	2006-03-28		ENSG00000010278	ENSG00000010278	928	928		CD molecules, Tetraspanins	1709	protein-coding gene	gene with protein product	motility related protein-1	143030	CD9 antigen (p24)	MIC3	NA	6198179	Standard		NM_001769	NA	Approved	BA2, P24, TSPAN29, MRP-1	uc001qnq.2	P21926	OTTHUMG00000044400	ENST00000382515.2:c.-70G>A	12.37:g.6334663G>A		NA	D3DUQ9|Q5J7W6|Q96ES4	37																																																																																				CD9-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000103347.2		+	ENST00000382515.2	5'UTR	SNP	12 : 6334663 - 6334663 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	309	83
PGLYRP4	57115	broad.mit.edu	37	1	153312923	153312923	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153312923C>T	ENST00000368739.3	-	7	1104	c.746G>A	c.(745-747)cGc>cAc	p.R249H	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.R253H			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	253					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GACCAGCAGGCGGCACTCATC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	97	99			NA	NA	1		NA											NA				153312923		2203	4300	6503	SO:0001583	missense			AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218	57115	57115			30015	protein-coding gene	gene with protein product	peptidoglycan recognition protein I beta precursor	608198			NA	11461926	Standard	NM_020393	XR_241090	NA	Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000368739.3:c.746G>A	1.37:g.153312923C>T	ENSP00000357728:p.Arg249His	NA	A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	37		.	.	.	.	.	.	.	.	.	.	C	12.63	1.996509	0.35226	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.17213	2.29;2.29	3.64	-1.61	0.08399	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.754962	0.11756	N	0.532586	T	0.15392	0.0371	L	0.60455	1.87	0.09310	N	0.999991	D;D	0.71674	0.998;0.998	P;D	0.65987	0.901;0.94	T	0.07947	-1.0746	10	0.45353	T	0.12	-24.8992	7.2323	0.26049	0.0:0.3842:0.0:0.6158	.	249;253	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	H	249;253	ENSP00000357728:R249H;ENSP00000352672:R253H	ENSP00000352672:R253H	R	-	2	0	PGLYRP4	151579547	0.000000	0.05858	0.397000	0.26308	0.498000	0.33706	-1.787000	0.01764	-0.225000	0.09913	0.655000	0.94253	CGC	PGLYRP4-002	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000089977.1		-	ENST00000368739.3	Missense_Mutation	SNP	1 : 153312923 - 153312923 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	100
PPP1R13L	10848	broad.mit.edu	37	19	45889369	45889369	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45889369C>T	ENST00000418234.2	-	9	1963	c.1885G>A	c.(1885-1887)Gtg>Atg	p.V629M	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.V629M	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	629					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		AGGAGGAGCACCAGAGGGTTG	0.736		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(61;1447 1663 31419 50578)							NA				0													8	9	9			NA	NA	19		NA											NA				45889369		2184	4267	6451	SO:0001583	missense			AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881	10848	10848		Ankyrin repeat domain containing	18838	protein-coding gene	gene with protein product		607463	protein phosphatase 1, regulatory (inhibitor) subunit 13 like		NA	10336463	Standard	NM_006663	NM_006663	NA	Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.1885G>A	19.37:g.45889369C>T	ENSP00000403902:p.Val629Met	NA	Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	37	CCDS33050.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052486	0.55218	.	.	ENSG00000104881	ENST00000418234;ENST00000360957;ENST00000221478	T;T	0.58060	0.36;0.36	4.99	4.99	0.66335	Src homology-3 domain (1);Ankyrin repeat-containing domain (2);	0.197616	0.44285	D	0.000463	T	0.55940	0.1952	N	0.19112	0.55	0.42107	D	0.991363	D;D	0.71674	0.998;0.997	P;P	0.61800	0.894;0.886	T	0.62291	-0.6885	10	0.87932	D	0	.	15.8232	0.78676	0.0:1.0:0.0:0.0	.	629;208	Q8WUF5;A7YME7	IASPP_HUMAN;.	M	629;629;203	ENSP00000403902:V629M;ENSP00000354218:V629M	ENSP00000221478:V203M	V	-	1	0	PPP1R13L	50581209	1.000000	0.71417	0.994000	0.49952	0.718000	0.41266	5.135000	0.64777	2.601000	0.87937	0.561000	0.74099	GTG	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457586.1		-	ENST00000418234.2	Missense_Mutation	SNP	19 : 45889369 - 45889369 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	58	8
KAZN	23254	broad.mit.edu	37	1	15420728	15420728	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15420728C>T	ENST00000376030.2	+	9	1569	c.1275C>T	c.(1273-1275)ggC>ggT	p.G425G		NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	425					keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						TGTCGGAAGGCGAGGAGCAGA	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	44	41			NA	NA	1		NA											NA				15420728		2148	4251	6399	SO:0001819	synonymous_variant			AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337	23254	23254		Sterile alpha motif (SAM) domain containing	29173	protein-coding gene	gene with protein product					NA	15337775, 18840647	Standard	NM_001017999	NM_015209	NA	Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.1275C>T	1.37:g.15420728C>T		NA	B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	37	CCDS152.2																																																																																			KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005690.2		+	ENST00000376030.2	Silent	SNP	1 : 15420728 - 15420728 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	49
SESN3	143686	broad.mit.edu	37	11	94924617	94924617	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94924617C>T	ENST00000278499.2	-	3	599	c.59G>A	c.(58-60)cGc>cAc	p.R20H	SESN3_ENST00000416495.2_Missense_Mutation_p.R98H|RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000536441.1_Missense_Mutation_p.R98H|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000393234.1_Missense_Mutation_p.R98H			P58005	SESN3_HUMAN	sestrin 3	0					cell cycle arrest	nucleus		p.R98L(1)		endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		ACCATCCATGCGCAACATGTA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											202	176	185			NA	NA	11		NA											NA				94924617		2201	4298	6499	SO:0001583	missense			AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212	143686	143686			23060	protein-coding gene	gene with protein product		607768			NA	12607115	Standard	NM_144665	NM_144665	NA	Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000278499.2:c.59G>A	11.37:g.94924617C>T	ENSP00000278499:p.Arg20His	NA	Q96AD1	37		.	.	.	.	.	.	.	.	.	.	C	14.42	2.530975	0.45073	.	.	ENSG00000149212	ENST00000536441;ENST00000278499;ENST00000393234;ENST00000416495	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.43590	0.1254	L	0.43757	1.38	0.58432	D	0.999999	D;D;D	0.89917	0.997;1.0;0.999	P;D;D	0.71414	0.899;0.973;0.93	T	0.03240	-1.1057	10	0.18710	T	0.47	-2.0503	20.0953	0.97838	0.0:1.0:0.0:0.0	.	20;98;98	B7Z7P9;P58005-3;P58005	.;.;SESN3_HUMAN	H	98;20;98;98	ENSP00000441927:R98H;ENSP00000278499:R20H;ENSP00000376926:R98H;ENSP00000407008:R98H	ENSP00000278499:R20H	R	-	2	0	SESN3	94564265	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	3.534000	0.53568	2.767000	0.95098	0.655000	0.94253	CGC	SESN3-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000396479.1		-	ENST00000278499.2	Missense_Mutation	SNP	11 : 94924617 - 94924617 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	693	131
LANCL1	10314	broad.mit.edu	37	2	211319832	211319832	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211319832G>A	ENST00000443314.1	-	3	748	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	AC007970.1_ENST00000420418.1_RNA|LANCL1_ENST00000233714.4_Splice_Site_p.R136W|LANCL1_ENST00000450366.2_Splice_Site_p.R136W|AC007970.1_ENST00000433296.1_RNA|LANCL1_ENST00000441020.3_Splice_Site_p.R136W|LANCL1_ENST00000431941.2_Splice_Site_p.R136W			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	136						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		CATGATTACCGTGTGATGCAA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	77	81			NA	NA	2		NA											NA				211319832		2203	4300	6503	SO:0001630	splice_region_variant			Y11395	CCDS2392.1	2q33-q35	2008-05-23	2001-12-04		ENSG00000115365	ENSG00000115365	10314	10314			6508	protein-coding gene	gene with protein product		604155	LanC (bacterial lantibiotic synthetase component C)-like 1	GPR69A	NA	9512664	Standard	NM_006055	NM_001136574	NA	Approved	p40	uc010zjh.2	O43813	OTTHUMG00000132991	ENST00000443314.1:c.407+1C>T	2.37:g.211319832G>A		NA		37	CCDS2392.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.129799	0.37630	.	.	ENSG00000115365	ENST00000443314;ENST00000441020;ENST00000450366;ENST00000233714;ENST00000431941;ENST00000448951	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	5.64	1.57	0.23409	Six-hairpin glycosidase-like (1);	0.098347	0.64402	D	0.000001	T	0.61048	0.2316	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.64144	0.922	T	0.63915	-0.6529	10	0.87932	D	0	.	9.3467	0.38113	0.0647:0.0:0.4569:0.4783	.	136	O43813	LANC1_HUMAN	W	136	ENSP00000388713:R136W;ENSP00000393323:R136W;ENSP00000393597:R136W;ENSP00000233714:R136W;ENSP00000397646:R136W;ENSP00000396518:R136W	ENSP00000233714:R136W	R	-	1	2	LANCL1	211028077	0.990000	0.36364	0.641000	0.29422	0.121000	0.20230	1.256000	0.32921	0.406000	0.25560	0.650000	0.86243	CGG	LANCL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336817.1	Missense_Mutation	-	ENST00000443314.1	Splice_Site	SNP	2 : 211319832 - 211319832 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	411	92
STOM	2040	broad.mit.edu	37	9	124111572	124111572	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124111572G>A	ENST00000286713.2	-	5	368	c.351C>T	c.(349-351)agC>agT	p.S117S	STOM_ENST00000347359.2_Intron|STOM_ENST00000538954.1_Silent_p.S66S	NM_001270526.1|NM_004099.5	NP_001257455.1|NP_004090.4	P27105	STOM_HUMAN	stomatin	117					protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding			endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		CACCATCCACGCTAATTGTCA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	136	144			NA	NA	9		NA											NA				124111572		2203	4300	6503	SO:0001819	synonymous_variant				CCDS6830.1, CCDS6831.1, CCDS75892.1	9q34.1	2008-07-21	2002-11-11	2002-11-15	ENSG00000148175	ENSG00000148175	2040	2040			3383	protein-coding gene	gene with protein product		133090	erythrocyte membrane protein band 7.2 (stomatin)	EPB7, EPB72	NA	1883838	Standard	NM_004099	NM_198194	NA	Approved	BND7	uc004blh.4	P27105	OTTHUMG00000020590	ENST00000286713.2:c.351C>T	9.37:g.124111572G>A		NA	Q14087|Q15609|Q5VX96|Q96FK4	37	CCDS6830.1																																																																																			STOM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053889.1		-	ENST00000286713.2	Silent	SNP	9 : 124111572 - 124111572 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	50
FAM179B	23116	broad.mit.edu	37	14	45432488	45432488	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45432488C>T	ENST00000361462.2	+	1	1047	c.864C>T	c.(862-864)ggC>ggT	p.G288G	FAM179B_ENST00000361577.3_Silent_p.G288G|FAM179B_ENST00000382233.2_Silent_p.G288G			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	288							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AGCGACTTGGCCAAGACAGGT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	80	78			NA	NA	14		NA											NA				45432488		2203	4300	6503	SO:0001819	synonymous_variant			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718	23116	23116			19959	protein-coding gene	gene with protein product			KIAA0423	KIAA0423	NA		Standard	XM_113781	XM_005267451	NA	Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361462.2:c.864C>T	14.37:g.45432488C>T		NA	Q68D66|Q6PG27	37																																																																																				FAM179B-002	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000276792.1		+	ENST00000361462.2	Silent	SNP	14 : 45432488 - 45432488 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	560	116
CSRNP3	80034	broad.mit.edu	37	2	166535367	166535367	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166535367C>A	ENST00000409420.1	+	5	1208	c.958C>A	c.(958-960)Ctg>Atg	p.L320M	CSRNP3_ENST00000342316.4_Missense_Mutation_p.L288M|CSRNP3_ENST00000314499.7_Missense_Mutation_p.L288M			Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	288	Glu-rich.				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						AATCCCCACGCTGAATGGCTG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	68	68			NA	NA	2		NA											NA				166535367		2203	4300	6503	SO:0001583	missense			AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662	80034	80034		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	30729	protein-coding gene	gene with protein product	TGF beta induced apotosis protein 2, protein phosphatase 1, regulatory subunit 73		family with sequence similarity 130, member A2	FAM130A2	NA	17726538	Standard	NM_024969	NM_024969	NA	Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000409420.1:c.958C>A	2.37:g.166535367C>A	ENSP00000387195:p.Leu320Met	NA	B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	37		.	.	.	.	.	.	.	.	.	.	C	13.56	2.274116	0.40194	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000342316;ENST00000409420	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	5.71	5.71	0.89125	.	0.351845	0.29838	N	0.011074	T	0.13286	0.0322	N	0.08118	0	0.38413	D	0.945977	P	0.49447	0.924	P	0.47981	0.563	T	0.18085	-1.0348	10	0.31617	T	0.26	-9.333	14.4442	0.67338	0.0:0.853:0.147:0.0	.	288	Q8WYN3	CSRN3_HUMAN	M	288;295;288;288;320	ENSP00000412081:L288M;ENSP00000318258:L288M;ENSP00000344042:L288M;ENSP00000387195:L320M	ENSP00000318258:L288M	L	+	1	2	CSRNP3	166243613	0.956000	0.32656	0.998000	0.56505	0.943000	0.58893	1.839000	0.39220	2.683000	0.91414	0.650000	0.86243	CTG	CSRNP3-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000333608.1		+	ENST00000409420.1	Missense_Mutation	SNP	2 : 166535367 - 166535367 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	402	119
HID1	283987	broad.mit.edu	37	17	72949126	72949126	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72949126C>A	ENST00000425042.2	-	16	2104	c.2027G>T	c.(2026-2028)gGg>gTg	p.G676V		NM_030630.2	NP_085133.1			HID1 domain containing	NA											NA						GCTCCACTGCCCACTGGCTGA	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	22	23			NA	NA	17		NA											NA				72949126		2202	4295	6497	SO:0001583	missense				CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861	283987	283987			15736	protein-coding gene	gene with protein product	downregulated in multiple cancer 1	605752	chromosome 17 open reading frame 28	C17orf28	NA	11281419, 21337012	Standard	NM_030630	NM_030630	NA	Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.2027G>T	17.37:g.72949126C>A	ENSP00000413520:p.Gly676Val	NA		37	CCDS32726.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.718034	0.30503	.	.	ENSG00000167861	ENST00000525426;ENST00000425042;ENST00000318565	.	.	.	5.09	5.09	0.68999	.	0.256286	0.34700	N	0.003741	T	0.54806	0.1881	L	0.41824	1.3	0.80722	D	1	B	0.12630	0.006	B	0.19148	0.024	T	0.49762	-0.8905	9	0.29301	T	0.29	-22.1272	16.6701	0.85263	0.0:1.0:0.0:0.0	.	676	Q8IV36	CQ028_HUMAN	V	448;676;448	.	ENSP00000317795:G448V	G	-	2	0	C17orf28	70460721	0.775000	0.28604	1.000000	0.80357	0.037000	0.13140	2.358000	0.44134	2.372000	0.80975	0.561000	0.74099	GGG	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390011.2		-	ENST00000425042.2	Missense_Mutation	SNP	17 : 72949126 - 72949126 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	108	21
CGRRF1	10668	broad.mit.edu	37	14	55004875	55004875	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55004875G>A	ENST00000216420.7	+	6	905	c.773G>A	c.(772-774)gGa>gAa	p.G258E	CGRRF1_ENST00000557512.1_3'UTR	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	258					cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding			endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						GAAAAGGTGGGACTCTCTGAA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	96	98			NA	NA	14		NA											NA				55004875		2203	4300	6503	SO:0001583	missense			BC015063	CCDS9719.1	14q22.2	2013-09-20			ENSG00000100532	ENSG00000100532	10668	10668		RING-type (C3HC4) zinc fingers	15528	protein-coding gene	gene with protein product		606138			NA	8968090	Standard	NM_006568	NM_006568	NA	Approved	CGR19, RNF197	uc001xay.3	Q99675	OTTHUMG00000140308	ENST00000216420.7:c.773G>A	14.37:g.55004875G>A	ENSP00000216420:p.Gly258Glu	NA	Q96BX2	37	CCDS9719.1	.	.	.	.	.	.	.	.	.	.	G	8.102	0.776869	0.16120	.	.	ENSG00000100532	ENST00000216420	T	0.27104	1.69	5.31	4.4	0.53042	.	0.255488	0.37809	N	0.001938	T	0.34600	0.0903	L	0.50333	1.59	0.45554	D	0.998509	D	0.63880	0.993	P	0.52793	0.709	T	0.05305	-1.0893	10	0.24483	T	0.36	-17.8994	15.2224	0.73324	0.0:0.0:0.8583:0.1417	.	258	Q99675	CGRF1_HUMAN	E	258	ENSP00000216420:G258E	ENSP00000216420:G258E	G	+	2	0	CGRRF1	54074625	1.000000	0.71417	0.078000	0.20375	0.016000	0.09150	8.490000	0.90464	1.425000	0.47237	0.591000	0.81541	GGA	CGRRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276905.2		+	ENST00000216420.7	Missense_Mutation	SNP	14 : 55004875 - 55004875 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	418	70
CORO1B	57175	broad.mit.edu	37	11	67206391	67206391	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67206391G>A	ENST00000341356.5	-	10	1205	c.1095C>T	c.(1093-1095)ccC>ccT	p.P365P	CORO1B_ENST00000539724.1_5'UTR|CORO1B_ENST00000393893.1_Silent_p.P365P	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	365					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CGGCTGTGTCGGGGTACAGAT	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													10	13	12			NA	NA	11		NA											NA				67206391		2186	4278	6464	SO:0001819	synonymous_variant			AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725	57175	57175		Coronins, WD repeat domain containing	2253	protein-coding gene	gene with protein product		609849	coronin, actin-binding protein, 1B		NA	9778037	Standard	NM_020441	NM_001018070	NA	Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.1095C>T	11.37:g.67206391G>A		NA	B2RD45	37	CCDS8164.1																																																																																			CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396220.1		-	ENST00000341356.5	Silent	SNP	11 : 67206391 - 67206391 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	124	24
GPR139	124274	broad.mit.edu	37	16	20043354	20043354	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20043354C>T	ENST00000570682.1	-	2	1065	c.765G>A	c.(763-765)gcG>gcA	p.A255A		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	255						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TCTGGATGGGCGCCCCATAGA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	65	64			NA	NA	16		NA											NA				20043354		2203	4300	6503	SO:0001819	synonymous_variant			AY255545	CCDS32398.1	16p13.11	2012-08-21					124274	124274		GPCR / Class A : Orphans	19995	protein-coding gene	gene with protein product					NA	12679517	Standard	NM_001002911	XM_005255114	NA	Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.765G>A	16.37:g.20043354C>T		NA	Q86SP2|Q8TDU8	37	CCDS32398.1																																																																																			GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438522.1		-	ENST00000570682.1	Silent	SNP	16 : 20043354 - 20043354 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	449	87
SEMA3G	56920	broad.mit.edu	37	3	52474045	52474045	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52474045G>T	ENST00000231721.2	-	11	1212	c.1213C>A	c.(1213-1215)Ctg>Atg	p.L405M		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	405	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GCAAACTGCAGCACCTCATCT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	90	91			NA	NA	3		NA											NA				52474045		2203	4300	6503	SO:0001583	missense				CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319	56920	56920		Semaphorins, Immunoglobulin superfamily / Immunoglobulin-like domain containing	30400	protein-coding gene	gene with protein product					NA	11214971	Standard	NM_020163	XM_005265327	NA	Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.1213C>A	3.37:g.52474045G>T	ENSP00000231721:p.Leu405Met	NA	Q7L9D9|Q9H7Q3	37	CCDS2856.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749069	0.69533	.	.	ENSG00000010319	ENST00000231721	T	0.30981	1.51	5.13	3.32	0.38043	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.64402	D	0.000005	T	0.62282	0.2415	M	0.92507	3.315	0.44024	D	0.996745	D	0.76494	0.999	D	0.83275	0.996	T	0.69921	-0.5014	10	0.87932	D	0	.	11.8658	0.52493	0.1436:0.0:0.8564:0.0	.	405	Q9NS98	SEM3G_HUMAN	M	405	ENSP00000231721:L405M	ENSP00000231721:L405M	L	-	1	2	SEMA3G	52449085	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.265000	0.51561	0.732000	0.32470	0.561000	0.74099	CTG	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351354.1		-	ENST00000231721.2	Missense_Mutation	SNP	3 : 52474045 - 52474045 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	552	122
DIRAS1	148252	broad.mit.edu	37	19	2717235	2717235	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2717235G>A	ENST00000323469.4	-	2	753	c.570C>T	c.(568-570)cgC>cgT	p.R190R	DIRAS1_ENST00000585334.1_Silent_p.R190R	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	190					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				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)		TGCCCTTGACGCGGTCTGTCC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	98	100			NA	NA	19		NA											NA				2717235		2203	4298	6501	SO:0001819	synonymous_variant			BC030660	CCDS12092.1	19p13.3	2014-05-09				ENSG00000176490	NA	148252			19127	protein-coding gene	gene with protein product		607862			NA	12107278	Standard		NM_145173	NA	Approved	Di-Ras1, GBTS1, RIG	uc002lwf.3	O95057		ENST00000323469.4:c.570C>T	19.37:g.2717235G>A		NA		37	CCDS12092.1																																																																																			DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451350.1		-	ENST00000323469.4	Silent	SNP	19 : 2717235 - 2717235 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1189	87
TUBGCP4	27229	broad.mit.edu	37	15	43692416	43692416	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43692416C>T	ENST00000564079.1	+	14	1833	c.1593C>T	c.(1591-1593)ctC>ctT	p.L531L	TUBGCP4_ENST00000260383.7_Silent_p.L532L|TUBGCP4_ENST00000399460.3_3'UTR	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	532					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		AGTACTATCTCCAGGTCTGTG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	132	133			NA	NA	15		NA											NA				43692416		1923	4131	6054	SO:0001819	synonymous_variant			AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822	27229	27229			16691	protein-coding gene	gene with protein product		609610			NA	10562286	Standard	NM_014444	NM_001286414	NA	Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000564079.1:c.1593C>T	15.37:g.43692416C>T		NA	B3KNK6|Q969X3|Q9NVF0	37	CCDS42030.1																																																																																			TUBGCP4-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432971.1		+	ENST00000564079.1	Silent	SNP	15 : 43692416 - 43692416 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	398	59
EXT2	2132	broad.mit.edu	37	11	44129365	44129365	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44129365C>A	ENST00000343631.3	+	2	232	c.103C>A	c.(103-105)Ctg>Atg	p.L35M	EXT2_ENST00000358681.4_Missense_Mutation_p.L35M|EXT2_ENST00000533608.1_Missense_Mutation_p.L35M|EXT2_ENST00000395673.3_Missense_Mutation_p.L68M			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	35					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						CATTGTCCTCCTGGGCCTCAT	0.512		NA	Mis, N, F, S			exostoses, osteosarcoma			Hereditary Multiple Exostoses					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	multiple exostoses type 2 gene		M	0													167	173	171			NA	NA	11		NA											NA				44129365		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2132	2132	2.4.1.224, 2.4.1.225	Exostosin glycosyltransferase family	3513	protein-coding gene	gene with protein product	Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase, N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase	608210	exostoses (multiple) 2, exostosin 2		NA	8162019, 9576285	Standard	NM_000401	NM_000401	NA	Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.103C>A	11.37:g.44129365C>A	ENSP00000342656:p.Leu35Met	NA	B2R5Z6|O15288	37	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.755661	0.49362	.	.	ENSG00000151348	ENST00000533608;ENST00000532479;ENST00000527014;ENST00000358681;ENST00000395673;ENST00000343631	T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24	5.45	3.58	0.41010	.	0.000000	0.85682	D	0.000000	T	0.67655	0.2916	L	0.27053	0.805	0.58432	D	0.999998	D;D;D;D;D	0.65815	0.974;0.991;0.995;0.98;0.98	P;P;P;P;P	0.60886	0.758;0.762;0.88;0.674;0.674	T	0.69537	-0.5119	10	0.72032	D	0.01	0.1963	12.1929	0.54280	0.0:0.8608:0.0:0.1392	.	35;35;35;35;48	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	M	35;35;35;35;68;35	ENSP00000431173:L35M;ENSP00000433827:L35M;ENSP00000434716:L35M;ENSP00000351509:L35M;ENSP00000379032:L68M;ENSP00000342656:L35M	ENSP00000342656:L35M	L	+	1	2	EXT2	44085941	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.010000	0.49559	0.682000	0.31407	0.650000	0.86243	CTG	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390074.1		+	ENST00000343631.3	Missense_Mutation	SNP	11 : 44129365 - 44129365 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	483	94
CAMSAP1	157922	broad.mit.edu	37	9	138712706	138712706	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138712706C>T	ENST00000389532.4	-	11	3865	c.3801G>A	c.(3799-3801)ccG>ccA	p.P1267P	CAMSAP1_ENST00000409386.3_Silent_p.P1278P|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Silent_p.P989P	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1267						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		AGCCGACCCCCGGCTTCTGGT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	47	45			NA	NA	9		NA											NA				138712706		2203	4300	6503	SO:0001819	synonymous_variant			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559	157922	157922			19946	protein-coding gene	gene with protein product		613774			NA	12477932	Standard	XM_351857	NM_015447	NA	Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.3801G>A	9.37:g.138712706C>T		NA	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	37	CCDS35176.2																																																																																			CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055024.2		-	ENST00000389532.4	Silent	SNP	9 : 138712706 - 138712706 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	432	18
HHIPL2	79802	broad.mit.edu	37	1	222721298	222721298	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:222721298A>G	ENST00000343410.6	-	1	147	c.89T>C	c.(88-90)aTa>aCa	p.I30T		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	30					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)		CAACAAGAATATGAGGCAGAG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	46	44			NA	NA	1		NA											NA				222721298		1920	4125	6045	SO:0001583	missense			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.89T>C	1.37:g.222721298A>G	ENSP00000342118:p.Ile30Thr	NA	Q6GU65|Q96BT4|Q96BU5|Q9H8A0	37	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	A	7.774	0.708145	0.15239	.	.	ENSG00000143512	ENST00000343410	T	0.18960	2.18	4.79	-2.02	0.07388	.	1.115640	0.06652	N	0.762871	T	0.06600	0.0169	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39921	-0.9590	10	0.10111	T	0.7	1.0583	8.3151	0.32095	0.7117:0.0:0.2883:0.0	.	30	Q6UWX4	HIPL2_HUMAN	T	30	ENSP00000342118:I30T	ENSP00000342118:I30T	I	-	2	0	HHIPL2	220787921	0.000000	0.05858	0.000000	0.03702	0.423000	0.31445	-0.261000	0.08694	-0.186000	0.10533	-0.337000	0.08149	ATA	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091499.2		-	ENST00000343410.6	Missense_Mutation	SNP	1 : 222721298 - 222721298 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	299	53
ARID1B	57492	broad.mit.edu	37	6	157495196	157495196	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:157495196C>T	ENST00000346085.5	+	11	3081	c.3080C>T	c.(3079-3081)cCt>cTt	p.P1027L	ARID1B_ENST00000275248.4_Missense_Mutation_p.P956L|ARID1B_ENST00000350026.5_Missense_Mutation_p.P1014L|ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000367148.1_Missense_Mutation_p.P1014L	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1014					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CTGCCCCTGCCTCTCAAAGCA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	100	103			NA	NA	6		NA											NA				157495196		2203	4296	6499	SO:0001583	missense			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618	57492	57492		-	18040	protein-coding gene	gene with protein product		614556			NA		Standard	NM_020732	NM_017519	NA	Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000346085.5:c.3080C>T	6.37:g.157495196C>T	ENSP00000344546:p.Pro1027Leu	NA	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	37	CCDS55072.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852213	0.71719	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000414678;ENST00000319584;ENST00000400790	T;T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3;0.3	5.51	5.51	0.81932	.	0.454996	0.24059	N	0.041940	T	0.44932	0.1317	L	0.36672	1.1	0.58432	D	0.999991	P;P;P;P	0.48764	0.465;0.915;0.617;0.465	B;P;B;B	0.45071	0.178;0.468;0.242;0.178	T	0.40213	-0.9575	10	0.39692	T	0.17	.	19.4168	0.94704	0.0:1.0:0.0:0.0	.	264;1014;1027;956	Q8NFD5-4;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	L	1027;1014;1014;956;431;483;436;81	ENSP00000344546:P1027L;ENSP00000055163:P1014L;ENSP00000356116:P1014L;ENSP00000275248:P956L;ENSP00000412835:P483L;ENSP00000313006:P436L;ENSP00000383596:P81L	ENSP00000275248:P956L	P	+	2	0	ARID1B	157536888	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.976000	0.63785	2.601000	0.87937	0.655000	0.94253	CCT	ARID1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042827.3		+	ENST00000346085.5	Missense_Mutation	SNP	6 : 157495196 - 157495196 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	347	44
NELL1	4745	broad.mit.edu	37	11	20948936	20948936	+	Missense_Mutation	SNP	G	G	A	rs140129150		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20948936G>A	ENST00000298925.5	+	9	1079	c.926G>A	c.(925-927)cGa>cAa	p.R309Q	NELL1_ENST00000357134.5_Missense_Mutation_p.R281Q|NELL1_ENST00000325319.5_Missense_Mutation_p.R224Q|NELL1_ENST00000532434.1_Missense_Mutation_p.R281Q			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	281	VWFC 1.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CTGCTCTATCGAGATCAAGAC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	120	123			NA	NA	11		NA											NA				20948936		2203	4300	6503	SO:0001583	missense			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973	4745	4745			7750	protein-coding gene	gene with protein product		602319	nel (chicken)-like 1		NA	8975702	Standard	NM_006157	NM_006157	NA	Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000298925.5:c.926G>A	11.37:g.20948936G>A	ENSP00000298925:p.Arg309Gln	NA	B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	37		.	.	.	.	.	.	.	.	.	.	G	31	5.076534	0.94000	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	5.7	5.7	0.88788	von Willebrand factor, type C (3);	0.000000	0.85682	D	0.000000	T	0.79387	0.4437	L	0.41824	1.3	0.53688	D	0.999975	D;D;D;D	0.76494	0.999;0.999;0.987;0.999	D;D;P;D	0.80764	0.99;0.994;0.629;0.994	T	0.75158	-0.3416	10	0.30078	T	0.28	-14.2843	19.851	0.96740	0.0:0.0:1.0:0.0	.	224;309;281;281	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	Q	309;281;224;281	ENSP00000298925:R309Q;ENSP00000349654:R281Q;ENSP00000317837:R224Q;ENSP00000437170:R281Q	ENSP00000298925:R309Q	R	+	2	0	NELL1	20905512	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.199000	0.95003	2.687000	0.91594	0.557000	0.71058	CGA	NELL1-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000387587.1		+	ENST00000298925.5	Missense_Mutation	SNP	11 : 20948936 - 20948936 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	364	66
CDH10	1008	broad.mit.edu	37	5	24509737	24509737	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:24509737T>G	ENST00000264463.4	-	7	1701	c.1194A>C	c.(1192-1194)gaA>gaC	p.E398D		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	398	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTGTGCCCACTTCAATATCTT	0.403		NA								HNSCC(23;0.051)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	103	103			NA	NA	5		NA											NA				24509737		2203	4300	6503	SO:0001583	missense			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731	1008	1008		Cadherins / Major cadherins	1749	protein-coding gene	gene with protein product		604555			NA	2059658	Standard	NM_006727	NM_006727	NA	Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1194A>C	5.37:g.24509737T>G	ENSP00000264463:p.Glu398Asp	NA	Q9ULB3	37	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	T	13.59	2.283613	0.40394	.	.	ENSG00000040731	ENST00000264463	T	0.02552	4.25	5.26	2.73	0.32206	Cadherin (3);Cadherin-like (1);	0.228496	0.43579	N	0.000547	T	0.02494	0.0076	L	0.28556	0.865	0.30452	N	0.775141	B	0.13145	0.007	B	0.19148	0.024	T	0.23332	-1.0191	10	0.45353	T	0.12	.	6.4566	0.21934	0.0:0.0833:0.3006:0.6162	.	398	Q9Y6N8	CAD10_HUMAN	D	398	ENSP00000264463:E398D	ENSP00000264463:E398D	E	-	3	2	CDH10	24545494	0.132000	0.22450	1.000000	0.80357	0.994000	0.84299	0.212000	0.17497	0.356000	0.24157	0.528000	0.53228	GAA	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207345.2		-	ENST00000264463.4	Missense_Mutation	SNP	5 : 24509737 - 24509737 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	69
CPXM1	56265	broad.mit.edu	37	20	2777179	2777179	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2777179C>T	ENST00000380605.2	-	8	1103	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	347					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GTACCCAGCTCATGCTCCCCA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	161	163			NA	NA	20		NA											NA				2777179		2203	4300	6503	SO:0001583	missense			AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882	56265	56265			15771	protein-coding gene	gene with protein product	carboxypeptidase-like protein X1	609555	carboxypeptidase X (M14 family)	CPXM	NA	14702039	Standard	NM_019609	NM_019609	NA	Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1039G>A	20.37:g.2777179C>T	ENSP00000369979:p.Glu347Lys	NA	Q6P4G8|Q6UW65|Q9NUB5	37	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958823	0.92726	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	T	0.10860	2.83	5.43	5.43	0.79202	Peptidase M14, carboxypeptidase A (1);	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	M	0.80422	2.495	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.995	T	0.05699	-1.0869	10	0.66056	D	0.02	-34.914	16.7686	0.85531	0.0:1.0:0.0:0.0	.	347;347	Q8N2E1;Q96SM3	.;CPXM1_HUMAN	K	347;43	ENSP00000369979:E347K	ENSP00000369979:E347K	E	-	1	0	CPXM1	2725179	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.935000	0.70145	2.825000	0.97269	0.655000	0.94253	GAG	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077643.2		-	ENST00000380605.2	Missense_Mutation	SNP	20 : 2777179 - 2777179 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	718	132
OBSCN	84033	broad.mit.edu	37	1	228476588	228476588	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228476588G>T	ENST00000570156.2	+	43	11699	c.11625G>T	c.(11623-11625)aaG>aaT	p.K3875N	OBSCN_ENST00000366707.4_Splice_Site_p.K565N|OBSCN_ENST00000284548.11_Splice_Site_p.K3446N|OBSCN_ENST00000359599.6_Splice_Site_p.K2293N|OBSCN_ENST00000366709.4_Splice_Site_p.K565N|OBSCN_ENST00000422127.1_Splice_Site_p.K3446N	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2912	Ig-like 39.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCACCGTGAAGGGTAATGACT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	96	93			NA	NA	1		NA											NA				228476588		2198	4282	6480	SO:0001630	splice_region_variant			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358	84033	84033		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	15719	protein-coding gene	gene with protein product		608616			NA	11448995, 11814696	Standard	NM_052843	NM_001098623	NA	Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000570156.2:c.11626+1G>T	1.37:g.228476588G>T		NA	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	37	CCDS59204.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.285858	0.23478	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.05580	3.42;3.42;3.42;3.42;3.42	5.12	3.03	0.35002	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.205780	0.05700	N	0.593826	T	0.11324	0.0276	L	0.58354	1.805	0.19575	N	0.999969	D;B	0.55800	0.973;0.012	P;B	0.53401	0.725;0.009	T	0.27226	-1.0080	10	0.15952	T	0.53	.	1.1255	0.01734	0.2016:0.1401:0.4334:0.2249	.	3446;3446	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	N	3446;3446;565;565;2293	ENSP00000284548:K3446N;ENSP00000409493:K3446N;ENSP00000355668:K565N;ENSP00000355670:K565N;ENSP00000352613:K2293N	ENSP00000284548:K3446N	K	+	3	2	OBSCN	226543211	0.001000	0.12720	0.850000	0.33497	0.115000	0.19883	-0.087000	0.11215	1.075000	0.40932	0.491000	0.48974	AAG	OBSCN-011	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421354.3	Missense_Mutation	+	ENST00000570156.2	Splice_Site	SNP	1 : 228476588 - 228476588 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	332	40
CHUK	1147	broad.mit.edu	37	10	101964413	101964413	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101964413A>G	ENST00000370397.7	-	13	1443	c.1357T>C	c.(1357-1359)Tta>Cta	p.L453L		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	453					I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|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	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		AGAAGACTTAACCTAAACCAC	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(159;52 1904 10536 35305 37148)							NA				0													78	73	75			NA	NA	10		NA											NA				101964413		2202	4300	6502	SO:0001630	splice_region_variant			AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341	1147	1147			1974	protein-coding gene	gene with protein product		600664		TCF16	NA	7558004, 16902410	Standard	NM_001278	XR_246062	NA	Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.1356-1T>C	10.37:g.101964413A>G		NA	O14666|Q13132|Q5W0I4|Q92467	37	CCDS7488.1																																																																																			CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049836.1	Silent	-	ENST00000370397.7	Splice_Site	SNP	10 : 101964413 - 101964413 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	207	43
PDE4DIP	9659	broad.mit.edu	37	1	144994627	144994627	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144994627C>T	ENST00000530740.1	-	4	554	c.516G>A	c.(514-516)caG>caA	p.Q172Q	PDE4DIP_ENST00000369356.4_Silent_p.Q35Q|PDE4DIP_ENST00000369349.3_Silent_p.Q35Q|PDE4DIP_ENST00000369351.3_Silent_p.Q35Q|PDE4DIP_ENST00000369354.3_Silent_p.Q35Q|PDE4DIP_ENST00000369348.3_Silent_p.Q172Q|PDE4DIP_ENST00000313382.9_Silent_p.Q101Q|PDE4DIP_ENST00000369347.4_Silent_p.Q35Q|PDE4DIP_ENST00000369359.4_Silent_p.Q172Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	35					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCTCATACTTCTGTTGCATGC	0.597		NA	T	PDGFRB	MPD									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													148	133	138			NA	NA	1		NA											NA				144994627		2203	4300	6503	SO:0001819	synonymous_variant			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104	9659	9659			15580	protein-coding gene	gene with protein product	myomegalin	608117	cardiomyopathy associated 2	CMYA2	NA	9455484, 11134006	Standard	NM_022359	NM_022359	NA	Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000530740.1:c.516G>A	1.37:g.144994627C>T		NA	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	37																																																																																				PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000384663.2		-	ENST00000530740.1	Silent	SNP	1 : 144994627 - 144994627 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1164	60
PIP5K1B	8395	broad.mit.edu	37	9	71532675	71532675	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71532675C>T	ENST00000265382.3	+	9	1288	c.983C>T	c.(982-984)aCa>aTa	p.T328I	PIP5K1B_ENST00000541509.1_Splice_Site_p.T328I	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	328	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		AACCCAGACACGTAAGTGCAG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	68	70			NA	NA	9		NA											NA				71532675		2203	4300	6503	SO:0001630	splice_region_variant			U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242	8395	8395			8995	protein-coding gene	gene with protein product		602745			NA	9177790, 8841185	Standard	NM_003558	NM_003558	NA	Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.983+1C>T	9.37:g.71532675C>T		NA	A8K9L9|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	37	CCDS6624.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702089	0.48307	.	.	ENSG00000107242	ENST00000541509;ENST00000377290;ENST00000265382;ENST00000419747	T;T	0.30714	1.52;1.52	5.53	5.53	0.82687	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.110476	0.56097	D	0.000021	T	0.36193	0.0958	M	0.66439	2.03	0.58432	D	0.999992	P	0.44877	0.845	B	0.40782	0.34	T	0.13629	-1.0502	10	0.20046	T	0.44	-10.8614	19.4619	0.94921	0.0:1.0:0.0:0.0	.	328	O14986	PI51B_HUMAN	I	328;328;328;275	ENSP00000438082:T328I;ENSP00000265382:T328I	ENSP00000265382:T328I	T	+	2	0	PIP5K1B	70722495	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	4.287000	0.59001	2.592000	0.87571	0.655000	0.94253	ACA	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052561.2	Missense_Mutation	+	ENST00000265382.3	Splice_Site	SNP	9 : 71532675 - 71532675 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	53
TRIM59	286827	broad.mit.edu	37	3	160156199	160156199	+	Missense_Mutation	SNP	C	C	T	rs142551772		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160156199C>T	ENST00000309784.4	-	3	958	c.773G>A	c.(772-774)cGc>cAc	p.R258H	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.R258H|TRIM59_ENST00000543469.1_Missense_Mutation_p.R258H	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	258						integral to membrane|intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TACATGCTGGCGTACATCATC	0.378		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	98	103	101		773	4.9	0.8	3	dbSNP_134	101	3,8595	3.0+/-9.4	0,3,4296	yes	missense	TRIM59	NM_173084.2	29	0,3,6499	TT,TC,CC	NA	0.0349,0.0,0.0231	possibly-damaging	258/404	160156199	3,13001	2203	4299	6502	SO:0001583	missense			AY159379	CCDS3190.1	3q26	2013-01-09	2011-01-25		ENSG00000213186	ENSG00000213186	286827	286827		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	30834	protein-coding gene	gene with protein product			tripartite motif-containing 57, tripartite motif-containing 59	TRIM57	NA	12095697	Standard	NM_173084	NM_173084	NA	Approved	TSBF1, Mrf1, RNF104	uc003fdm.3	Q8IWR1	OTTHUMG00000159034	ENST00000309784.4:c.773G>A	3.37:g.160156199C>T	ENSP00000311219:p.Arg258His	NA	A8K5G9|D3DNL9	37	CCDS3190.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971880	0.53614	0.0	3.49E-4	ENSG00000213186	ENST00000543469;ENST00000309784	T;T	0.25749	1.99;1.78	5.77	4.89	0.63831	.	0.109676	0.64402	D	0.000014	T	0.18467	0.0443	L	0.33485	1.01	0.33875	D	0.635472	B	0.26041	0.14	B	0.17722	0.019	T	0.14671	-1.0464	9	.	.	.	-13.8692	12.589	0.56434	0.0:0.8694:0.0:0.1306	.	258	Q8IWR1	TRI59_HUMAN	H	258	ENSP00000444313:R258H;ENSP00000311219:R258H	.	R	-	2	0	TRIM59	161638893	0.155000	0.22806	0.804000	0.32291	0.439000	0.31926	1.478000	0.35442	2.724000	0.93272	0.561000	0.74099	CGC	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352963.1		-	ENST00000309784.4	Missense_Mutation	SNP	3 : 160156199 - 160156199 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	681	126
ARHGAP27	201176	broad.mit.edu	37	17	43482416	43482416	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43482416G>A	ENST00000532038.1	-	3	657	c.522C>T	c.(520-522)gaC>gaT	p.D174D	ARHGAP27_ENST00000428638.1_Silent_p.D374D|ARHGAP27_ENST00000455881.1_Silent_p.D33D|ARHGAP27_ENST00000442348.1_Silent_p.D374D|ARHGAP27_ENST00000528384.1_Silent_p.D33D|ARHGAP27_ENST00000532891.2_Silent_p.D374D|ARHGAP27_ENST00000376922.2_Silent_p.D33D			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	374					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CGGGAGAATAGTCCTCCTCGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	48	47			NA	NA	17		NA											NA				43482416		2203	4300	6503	SO:0001819	synonymous_variant			AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314	201176	201176		Rho GTPase activating proteins, Pleckstrin homology (PH) domain containing	31813	protein-coding gene	gene with protein product		610591	SH3 domain containing 20	SH3D20	NA	15147912	Standard	NM_199282	NM_199282	NA	Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000532038.1:c.522C>T	17.37:g.43482416G>A		NA	A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	37																																																																																				ARHGAP27-003	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000392241.1		-	ENST00000532038.1	Silent	SNP	17 : 43482416 - 43482416 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	301	58
CLCN4	1183	broad.mit.edu	37	X	10180547	10180547	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:10180547C>T	ENST00000380833.4	+	10	1821	c.1430C>T	c.(1429-1431)gCg>gTg	p.A477V	CLCN4_ENST00000380829.1_Missense_Mutation_p.A446V|CLCN4_ENST00000421085.2_Missense_Mutation_p.A383V	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	477						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCTGTGGGCGCGATAGCGGGC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(74;1050 1296 1576 30544 38374)							NA				0													82	72	76			NA	NA	X		NA											NA				10180547		2203	4300	6503	SO:0001583	missense			X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464	NA	1183		Ion channels / Chloride channels : Voltage-sensitive	2022	protein-coding gene	gene with protein product		302910	chloride channel 4		NA	8069296	Standard		NM_001830	NA	Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.1430C>T	X.37:g.10180547C>T	ENSP00000370213:p.Ala477Val	NA	Q9UBU1	37	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	C	34	5.326636	0.95708	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	D;D;D	0.97430	-4.38;-4.38;-4.38	5.46	5.46	0.80206	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.99293	0.9753	H	0.99425	4.56	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98425	1.0579	10	0.87932	D	0	-43.1916	18.4584	0.90729	0.0:1.0:0.0:0.0	.	477	P51793	CLCN4_HUMAN	V	477;446;383	ENSP00000370213:A477V;ENSP00000370209:A446V;ENSP00000405754:A383V	ENSP00000370209:A446V	A	+	2	0	CLCN4	10140547	1.000000	0.71417	0.327000	0.25402	0.947000	0.59692	7.663000	0.83820	2.301000	0.77427	0.513000	0.50165	GCG	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055730.1		+	ENST00000380833.4	Missense_Mutation	SNP	X : 10180547 - 10180547 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	425	90
OR2F1	26211	broad.mit.edu	37	7	143657759	143657759	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143657759A>C	ENST00000392899.1	+	1	733	c.696A>C	c.(694-696)gaA>gaC	p.E232D		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					AGTCCAGAGAAGGAAGAAAGA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													183	159	167			NA	NA	7		NA											NA				143657759		2203	4300	6503	SO:0001583	missense			U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215	26211	26211		GPCR / Class A : Olfactory receptors	8246	protein-coding gene	gene with protein product		608497	olfactory receptor, family 2, subfamily F, member 1	OR2F4, OR2F5, OR2F3, OR2F3P	NA	9500546	Standard		NM_012369	NA	Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.696A>C	7.37:g.143657759A>C	ENSP00000376633:p.Glu232Asp	NA	A4D2G1|Q6IFP7|Q96R49|Q9UDX1	37	CCDS5887.1	.	.	.	.	.	.	.	.	.	.	A	11.51	1.660959	0.29515	.	.	ENSG00000213215	ENST00000392899	T	0.00342	8.03	5.53	1.63	0.23807	GPCR, rhodopsin-like superfamily (1);	0.114861	0.39146	N	0.001454	T	0.00271	0.0008	L	0.52266	1.64	0.26943	N	0.966205	B	0.17465	0.022	B	0.25140	0.058	T	0.37911	-0.9685	10	0.62326	D	0.03	-8.8499	8.3184	0.32115	0.3484:0.0:0.6516:0.0	.	232	Q13607	OR2F1_HUMAN	D	232	ENSP00000376633:E232D	ENSP00000376633:E232D	E	+	3	2	OR2F1	143288692	0.210000	0.23517	0.478000	0.27316	0.534000	0.34807	0.034000	0.13776	0.115000	0.18071	-0.132000	0.14878	GAA	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349581.1		+	ENST00000392899.1	Missense_Mutation	SNP	7 : 143657759 - 143657759 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	463	95
PSMA2	5683	broad.mit.edu	37	7	42957219	42957219	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42957219C>A	ENST00000442788.1	-	8	674	c.659G>T	c.(658-660)aGg>aTg	p.R220M	PSMA2_ENST00000223321.4_Missense_Mutation_p.R220M|PSMA2_ENST00000445517.1_Missense_Mutation_p.R150M			P25787	PSA2_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 2	220					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						TGGAGTAAGCCTCCTAAATCC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	84	90			NA	NA	7		NA											NA				42957219		2203	4300	6503	SO:0001583	missense			D00760	CCDS5467.1	7p13	2005-10-11			ENSG00000106588	ENSG00000106588	5683	5683		Proteasome (prosome, macropain) subunits	9531	protein-coding gene	gene with protein product		176842			NA	2025653, 1888762	Standard	NM_002787	NM_002787	NA	Approved	MU, HC3, PMSA2	uc003thy.3	P25787	OTTHUMG00000023916	ENST00000442788.1:c.659G>T	7.37:g.42957219C>A	ENSP00000455744:p.Arg220Met	NA	Q6ICS6|Q9BU45	37	CCDS5467.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.886810	0.72410	.	.	ENSG00000106588	ENST00000223321;ENST00000445517	T;T	0.42513	0.97;0.97	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.49643	0.1569	M	0.69248	2.105	0.80722	D	1	B	0.24368	0.102	B	0.32289	0.143	T	0.42172	-0.9467	10	0.39692	T	0.17	.	19.8546	0.96752	0.0:1.0:0.0:0.0	.	220	P25787	PSA2_HUMAN	M	220;150	ENSP00000223321:R220M;ENSP00000404858:R150M	ENSP00000223321:R220M	R	-	2	0	PSMA2	42923744	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.818000	0.86416	2.697000	0.92050	0.655000	0.94253	AGG	PSMA2-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|readthrough_transcript|CCDS	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000398997.1		-	ENST00000442788.1	Missense_Mutation	SNP	7 : 42957219 - 42957219 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	62
GPR171	29909	broad.mit.edu	37	3	150916725	150916725	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150916725A>C	ENST00000309180.5	-	3	679	c.449T>G	c.(448-450)aTg>aGg	p.M150R	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	150						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGGAATCATCATATTTGGCAC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	66	65			NA	NA	3		NA											NA				150916725		2203	4300	6503	SO:0001583	missense			AF002986	CCDS3155.1	3q25.1	2012-08-21			ENSG00000174946	ENSG00000174946	29909	29909		GPCR / Class A : Orphans	30057	protein-coding gene	gene with protein product	platelet activating receptor homolog				NA	9370294	Standard	NM_013308	NM_013308	NA	Approved	H963	uc003eyq.4	O14626	OTTHUMG00000159861	ENST00000309180.5:c.449T>G	3.37:g.150916725A>C	ENSP00000308479:p.Met150Arg	NA	D3DNJ4|Q8IV06	37	CCDS3155.1	.	.	.	.	.	.	.	.	.	.	A	19.75	3.886297	0.72410	.	.	ENSG00000174946	ENST00000309180	T	0.37584	1.19	5.55	5.55	0.83447	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.58395	0.2119	M	0.64170	1.965	0.52099	D	0.999944	D	0.76494	0.999	D	0.83275	0.996	T	0.61520	-0.7046	10	0.72032	D	0.01	-34.7026	15.71	0.77620	1.0:0.0:0.0:0.0	.	150	O14626	GP171_HUMAN	R	150	ENSP00000308479:M150R	ENSP00000308479:M150R	M	-	2	0	GPR171	152399415	1.000000	0.71417	0.996000	0.52242	0.935000	0.57460	5.406000	0.66357	2.105000	0.64084	0.533000	0.62120	ATG	GPR171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357793.1		-	ENST00000309180.5	Missense_Mutation	SNP	3 : 150916725 - 150916725 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	407	87
FGD1	2245	broad.mit.edu	37	X	54473856	54473856	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54473856A>G	ENST00000375135.3	-	17	3201	c.2468T>C	c.(2467-2469)gTc>gCc	p.V823A		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	823	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCTGCAGATGACGCTGTTCTC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	52	65			NA	NA	X		NA											NA				54473856		2203	4299	6502	SO:0001583	missense			U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302	2245	2245		Zinc fingers, FYVE domain containing, Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	3663	protein-coding gene	gene with protein product		300546	faciogenital dysplasia (Aarskog-Scott syndrome)	FGDY	NA		Standard	NM_004463	NM_004463	NA	Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.2468T>C	X.37:g.54473856A>G	ENSP00000364277:p.Val823Ala	NA	Q5H999|Q8N4D9	37	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.625943	0.66901	.	.	ENSG00000102302	ENST00000375135	T	0.12879	2.64	5.33	5.33	0.75918	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.325727	0.22324	N	0.061559	T	0.15219	0.0367	L	0.41236	1.265	0.40850	D	0.983745	B	0.22983	0.078	B	0.29440	0.102	T	0.03514	-1.1029	10	0.66056	D	0.02	-5.9167	13.3064	0.60355	1.0:0.0:0.0:0.0	.	823	P98174	FGD1_HUMAN	A	823	ENSP00000364277:V823A	ENSP00000364277:V823A	V	-	2	0	FGD1	54490581	1.000000	0.71417	0.994000	0.49952	0.946000	0.59487	8.526000	0.90588	1.784000	0.52394	0.430000	0.28490	GTC	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056801.1		-	ENST00000375135.3	Missense_Mutation	SNP	X : 54473856 - 54473856 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	85	25
ZNF136	7695	broad.mit.edu	37	19	12298401	12298401	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12298401C>A	ENST00000343979.4	+	4	1348	c.1208C>A	c.(1207-1209)tCt>tAt	p.S403Y	ZNF136_ENST00000398616.2_Missense_Mutation_p.S337Y	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	403					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						CCCTTTCATTCTCTGAGTCCA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	67	69			NA	NA	19		NA											NA				12298401		2203	4300	6503	SO:0001583	missense			U09367	CCDS32916.1	19p13.2	2013-01-08	2006-06-13		ENSG00000196646	ENSG00000196646	7695	7695		Zinc fingers, C2H2-type, -	12920	protein-coding gene	gene with protein product		604078	zinc finger protein 136 (clone pHZ-20)		NA	7557990	Standard	NM_003437	NM_003437	NA	Approved	pHZ-20	uc002mti.3	P52737	OTTHUMG00000156429	ENST00000343979.4:c.1208C>A	19.37:g.12298401C>A	ENSP00000344162:p.Ser403Tyr	NA		37	CCDS32916.1	.	.	.	.	.	.	.	.	.	.	C	4.216	0.038960	0.08148	.	.	ENSG00000196646	ENST00000343979;ENST00000398616	T;T	0.06608	3.28;3.28	1.4	-2.8	0.05823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02047	0.0064	N	0.05487	-0.04	0.09310	N	1	P	0.43231	0.801	B	0.31191	0.125	T	0.45145	-0.9281	8	.	.	.	.	4.8689	0.13622	0.0:0.1802:0.4533:0.3665	.	403	P52737	ZN136_HUMAN	Y	403;337	ENSP00000344162:S403Y;ENSP00000381617:S337Y	.	S	+	2	0	ZNF136	12159401	0.000000	0.05858	0.000000	0.03702	0.997000	0.91878	-3.496000	0.00451	-1.012000	0.03387	0.655000	0.94253	TCT	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344151.2		+	ENST00000343979.4	Missense_Mutation	SNP	19 : 12298401 - 12298401 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	58
LONP2	83752	broad.mit.edu	37	16	48385520	48385520	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48385520C>T	ENST00000285737.4	+	15	2459	c.2366C>T	c.(2365-2367)gCg>gTg	p.A789V	LONP2_ENST00000564259.1_3'UTR|LONP2_ENST00000535754.1_Missense_Mutation_p.A745V	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	789					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AAAGTGCTGGCGGCACACAGA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	64	63			NA	NA	16		NA											NA				48385520		2200	4300	6500	SO:0001583	missense			AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910	83752	83752		ATPases / AAA-type	20598	protein-coding gene	gene with protein product					NA	14561759	Standard	NM_031490	XM_005256191	NA	Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.2366C>T	16.37:g.48385520C>T	ENSP00000285737:p.Ala789Val	NA	Q0D2H6|Q8N3B9|Q8NCE9|Q96K43	37	CCDS10734.1	.	.	.	.	.	.	.	.	.	.	C	36	5.721766	0.96839	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754	T;T	0.42131	0.98;0.98	5.93	5.93	0.95920	Ribosomal protein S5 domain 2-type fold (1);Peptidase S16, Lon C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80914	0.4715	H	0.98721	4.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87938	0.2715	10	0.87932	D	0	-18.7393	20.3938	0.98981	0.0:1.0:0.0:0.0	.	745;789	B7ZKL7;Q86WA8	.;LONP2_HUMAN	V	789;518;745	ENSP00000285737:A789V;ENSP00000445426:A745V	ENSP00000285737:A789V	A	+	2	0	LONP2	46943021	1.000000	0.71417	0.990000	0.47175	0.922000	0.55478	7.786000	0.85741	2.831000	0.97527	0.585000	0.79938	GCG	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256839.2		+	ENST00000285737.4	Missense_Mutation	SNP	16 : 48385520 - 48385520 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	249	64
CCDC65	85478	broad.mit.edu	37	12	49312057	49312057	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49312057G>T	ENST00000266984.5	+	5	836		c.e5-1		RP11-302B13.5_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Splice_Site			Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	NA										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						TCACTTGCTAGAATTTAGAAG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	94	93			NA	NA	12		NA											NA				49312057		2203	4300	6503	SO:0001630	splice_region_variant				CCDS8772.1	12q13.12	2014-07-18			ENSG00000139537	ENSG00000139537	85478	85478			29937	protein-coding gene	gene with protein product		611088			NA	17089017, 21700706	Standard	NM_033124	NM_033124	NA	Approved	NYD-SP28, FLJ35732, FAP250, CILD27	uc001rso.3	Q8IXS2		ENST00000266984.5:c.610-1G>T	12.37:g.49312057G>T		NA	A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	37		.	.	.	.	.	.	.	.	.	.	G	18.79	3.698104	0.68386	.	.	ENSG00000139537	ENST00000266984;ENST00000552942;ENST00000320516	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2112	0.89871	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC65	47598324	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.003000	0.76310	2.677000	0.91161	0.655000	0.94253	.	CCDC65-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000408919.1	Intron	+	ENST00000266984.5	Splice_Site	SNP	12 : 49312057 - 49312057 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	524	81
ASPHD2	57168	broad.mit.edu	37	22	26838423	26838423	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26838423A>G	ENST00000215906.5	+	3	1324		c.e3-1			NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	NA					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						TTTTCCTACAAGGTCTGAAAA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	120	117			NA	NA	22		NA											NA				26838423		2203	4300	6503	SO:0001630	splice_region_variant			AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203	57168	57168			30437	protein-coding gene	gene with protein product					NA		Standard	NM_020437	NM_020437	NA	Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.887-1A>G	22.37:g.26838423A>G		NA	B2RCH3|Q7L0W3|Q9NSN3	37	CCDS13834.2	.	.	.	.	.	.	.	.	.	.	A	12.33	1.905827	0.33628	.	.	ENSG00000128203	ENST00000215906	.	.	.	4.35	-0.369	0.12534	.	.	.	.	.	.	.	.	.	.	.	0.46521	D	0.999083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.8781	0.13665	0.6668:0.1526:0.1806:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ASPHD2	25168423	1.000000	0.71417	0.015000	0.15790	0.431000	0.31685	8.271000	0.89883	-0.227000	0.09884	0.533000	0.62120	.	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320422.1	Intron	+	ENST00000215906.5	Splice_Site	SNP	22 : 26838423 - 26838423 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	897	92
ST8SIA4	7903	broad.mit.edu	37	5	100191813	100191813	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:100191813A>C	ENST00000231461.5	-	4	1101	c.791T>G	c.(790-792)gTc>gGc	p.V264G		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	264					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TTACCCTCTGACAGCATGAAT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	92	96			NA	NA	5		NA											NA				100191813		2203	4300	6503	SO:0001583	missense			L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532	7903	7903		Sialyltransferases	10871	protein-coding gene	gene with protein product	ST8Sia IV	602547	sialyltransferase 8 (alpha-2, 8-polysialytransferase) D	SIAT8D	NA	7624364	Standard	NM_005668	NM_005668	NA	Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.791T>G	5.37:g.100191813A>C	ENSP00000231461:p.Val264Gly	NA	A8KA07|Q92693	37	CCDS4091.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.027304	0.75390	.	.	ENSG00000113532	ENST00000231461	T	0.36157	1.27	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000001	T	0.63663	0.2530	M	0.89353	3.025	0.80722	D	1	D	0.63880	0.993	P	0.62813	0.907	T	0.71613	-0.4540	10	0.72032	D	0.01	-8.3466	14.6008	0.68441	1.0:0.0:0.0:0.0	.	264	Q92187	SIA8D_HUMAN	G	264	ENSP00000231461:V264G	ENSP00000231461:V264G	V	-	2	0	ST8SIA4	100219712	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	9.100000	0.94213	2.220000	0.72140	0.482000	0.46254	GTC	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250632.3		-	ENST00000231461.5	Missense_Mutation	SNP	5 : 100191813 - 100191813 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	334	58
ATRIP	84126	broad.mit.edu	37	3	48495698	48495698	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48495698A>C	ENST00000412052.1	+	4	735		c.e4-1		ATRIP_ENST00000357105.6_Splice_Site|ATRIP_ENST00000346691.4_Splice_Site|ATRIP_ENST00000320211.3_Splice_Site	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	NA					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTTGCCTTCCAGCTCCAATCA	0.393		NA						Other conserved DNA damage response genes						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	143	141			NA	NA	3		NA											NA				48495698		2203	4300	6503	SO:0001630	splice_region_variant			AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053	84126	84126			33499	protein-coding gene	gene with protein product		606605			NA	11721054	Standard	NM_130384	NM_130384	NA	Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000412052.1:c.274-1A>C	3.37:g.48495698A>C		NA	A8K6A3|A8K714|B2RCE7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	37	CCDS59449.1	.	.	.	.	.	.	.	.	.	.	A	19.37	3.815203	0.70912	.	.	ENSG00000164053	ENST00000421175;ENST00000320211;ENST00000346691;ENST00000357105;ENST00000412052	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.136	0.65289	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATRIP	48470702	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	7.099000	0.76981	2.222000	0.72286	0.533000	0.62120	.	ATRIP-005	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344694.2	Intron	+	ENST00000412052.1	Splice_Site	SNP	3 : 48495698 - 48495698 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	935	128
ILF3	3609	broad.mit.edu	37	19	10787961	10787961	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10787961A>C	ENST00000592763.1	+	4	534	c.534A>C	c.(532-534)gaA>gaC	p.E178D	ILF3_ENST00000589998.1_Missense_Mutation_p.E178D|ILF3_ENST00000318511.3_Missense_Mutation_p.E178D|ILF3_ENST00000420083.1_Missense_Mutation_p.E178D|ILF3_ENST00000407004.3_Missense_Mutation_p.E178D|ILF3_ENST00000590261.1_Missense_Mutation_p.E178D|ILF3_ENST00000588657.1_Missense_Mutation_p.E178D|ILF3_ENST00000250241.8_Missense_Mutation_p.E178D|ILF3_ENST00000449870.1_Missense_Mutation_p.E178D			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	178	DZF.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TTGTCAGAGAAGAAATGGAGA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	82	85			NA	NA	19		NA											NA				10787961		2203	4300	6503	SO:0001583	missense			U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351	3609	3609			6038	protein-coding gene	gene with protein product	M-phase phosphoprotein 4	603182	interleukin enhancer binding factor 3, 90kD		NA	7519613, 8885239	Standard		NM_012218	NA	Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000592763.1:c.534A>C	19.37:g.10787961A>C	ENSP00000465515:p.Glu178Asp	NA	A8K6F2|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	37		.	.	.	.	.	.	.	.	.	.	A	19.30	3.801770	0.70682	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.7	3.62	0.41486	DZF (2);	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	L	0.59436	1.845	0.53005	D	0.999969	D;D;P;D;D	0.71674	0.996;0.997;0.924;0.998;0.996	D;D;B;D;D	0.79108	0.987;0.992;0.421;0.99;0.987	T	0.54892	-0.8225	10	0.30078	T	0.28	.	9.0255	0.36227	0.847:0.0:0.153:0.0	.	178;178;178;178;178	G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;ILF3_HUMAN;.;.;.	D	178	ENSP00000404121:E178D;ENSP00000315205:E178D;ENSP00000405436:E178D;ENSP00000384660:E178D;ENSP00000250241:E178D	ENSP00000250241:E178D	E	+	3	2	ILF3	10648961	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.429000	0.34903	0.971000	0.38288	0.528000	0.53228	GAA	ILF3-004	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000452072.1		+	ENST00000592763.1	Missense_Mutation	SNP	19 : 10787961 - 10787961 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	388	71
BCL11B	64919	broad.mit.edu	37	14	99723995	99723995	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99723995C>A	ENST00000345514.2	-	2	506	c.240G>T	c.(238-240)caG>caT	p.Q80H	BCL11B_ENST00000357195.3_Missense_Mutation_p.Q80H|BCL11B_ENST00000443726.2_Intron	NM_001282238.1|NM_022898.1	NP_001269167.1|NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	0						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TGCCGCCACACTGCTTCCTTT	0.607		NA	T	TLX3	T-ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	0													62	65	64			NA	NA	14		NA											NA				99723995		2203	4300	6503	SO:0001583	missense			AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152	64919	64919		Zinc fingers, C2H2-type	13222	protein-coding gene	gene with protein product		606558		ZNF856B	NA	11719382, 16950772	Standard	NM_138576	NM_138576	NA	Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000345514.2:c.240G>T	14.37:g.99723995C>A	ENSP00000280435:p.Gln80His	NA	Q9H162	37	CCDS9949.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631309	0.46944	.	.	ENSG00000127152	ENST00000357195;ENST00000345514	T;T	0.18657	2.2;2.2	5.89	4.06	0.47325	.	0.088060	0.45867	N	0.000331	T	0.35682	0.0940	L	0.52266	1.64	0.80722	D	1	D;B	0.71674	0.998;0.004	D;B	0.74023	0.982;0.011	T	0.03818	-1.1001	10	0.19590	T	0.45	-16.8894	12.052	0.53511	0.0:0.8138:0.1209:0.0653	.	80;80	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	H	80	ENSP00000349723:Q80H;ENSP00000280435:Q80H	ENSP00000280435:Q80H	Q	-	3	2	BCL11B	98793748	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.063000	0.41423	0.816000	0.34421	0.655000	0.94253	CAG	BCL11B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000072333.2		-	ENST00000345514.2	Missense_Mutation	SNP	14 : 99723995 - 99723995 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	496	89
ST6GAL1	6480	broad.mit.edu	37	3	186793412	186793412	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186793412C>T	ENST00000169298.3	+	8	1716	c.1042C>T	c.(1042-1044)Cgc>Tgc	p.R348C	ST6GAL1_ENST00000457772.2_Missense_Mutation_p.R117C|ST6GAL1_ENST00000448044.1_Missense_Mutation_p.R348C	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	348					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		CCCATCCAAGCGCAAGACTGA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	121	130			NA	NA	3		NA											NA				186793412		2203	4300	6503	SO:0001583	missense			X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	6480	6480	2.4.99.1		10860	protein-coding gene	gene with protein product	ST6Gal I	109675	sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)	SIAT1	NA	2408023	Standard	NM_173216	NM_003032	NA	Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.1042C>T	3.37:g.186793412C>T	ENSP00000169298:p.Arg348Cys	NA	A8KA14|D3DNV3	37	CCDS3285.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415624	0.83449	.	.	ENSG00000073849	ENST00000169298;ENST00000457772;ENST00000448044	T;T;T	0.32988	1.43;1.43;1.43	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.66538	0.2799	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73858	-0.3850	10	0.87932	D	0	-7.2879	17.8009	0.88586	0.0:1.0:0.0:0.0	.	348	P15907	SIAT1_HUMAN	C	348;117;348	ENSP00000169298:R348C;ENSP00000412221:R117C;ENSP00000389337:R348C	ENSP00000169298:R348C	R	+	1	0	ST6GAL1	188276106	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	1.321000	0.33678	2.884000	0.98904	0.655000	0.94253	CGC	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344399.1		+	ENST00000169298.3	Missense_Mutation	SNP	3 : 186793412 - 186793412 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	336	63
ZNF318	24149	broad.mit.edu	37	6	43307732	43307732	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43307732G>T	ENST00000361428.2	-	10	4081	c.4004C>A	c.(4003-4005)cCt>cAt	p.P1335H	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1335					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AGGCATCCAAGGGCTGGTATG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													197	187	190			NA	NA	6		NA											NA				43307732		2203	4300	6503	SO:0001583	missense			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467	24149	24149		Zinc fingers, C2H2-type	13578	protein-coding gene	gene with protein product					NA	10873617	Standard	NM_014345	NM_014345	NA	Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.4004C>A	6.37:g.43307732G>T	ENSP00000354964:p.Pro1335His	NA	O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	37	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880334	0.51801	.	.	ENSG00000171467	ENST00000361428	T	0.55052	0.54	5.69	5.69	0.88448	.	0.091491	0.48286	D	0.000183	T	0.55337	0.1914	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58411	-0.7641	10	0.59425	D	0.04	-7.3954	15.3144	0.74062	0.0:0.1393:0.8607:0.0	.	1335	Q5VUA4	ZN318_HUMAN	H	1335	ENSP00000354964:P1335H	ENSP00000354964:P1335H	P	-	2	0	ZNF318	43415710	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.178000	0.77657	2.683000	0.91414	0.655000	0.94253	CCT	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040601.2		-	ENST00000361428.2	Missense_Mutation	SNP	6 : 43307732 - 43307732 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	517	124
CAMSAP2	23271	broad.mit.edu	37	1	200817897	200817897	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200817897C>A	ENST00000358823.2	+	11	2270	c.2000C>A	c.(1999-2001)aCt>aAt	p.T667N	CAMSAP2_ENST00000236925.4_Missense_Mutation_p.T678N|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.T651N	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	678						cytoplasm|microtubule	protein binding				NA						TGTCCAAGTACTGTAAGTACC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	69	69			NA	NA	1		NA											NA				200817897		2203	4300	6503	SO:0001583	missense			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200	23271	23271			29188	protein-coding gene	gene with protein product		613775	calmodulin regulated spectrin-associated protein 1-like 1	CAMSAP1L1	NA	15897902, 19508979	Standard	NM_203459	XM_005245040	NA	Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000358823.2:c.2000C>A	1.37:g.200817897C>A	ENSP00000351684:p.Thr667Asn	NA	B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	37	CCDS1404.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.154833	0.38021	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.45276	0.9;0.9;0.9	5.48	5.48	0.80851	.	0.300843	0.36034	N	0.002838	T	0.34513	0.0900	N	0.24115	0.695	0.39212	D	0.963333	B;B;B	0.32573	0.376;0.259;0.216	B;B;B	0.36845	0.234;0.055;0.086	T	0.12967	-1.0527	10	0.16896	T	0.51	-22.8274	19.3486	0.94374	0.0:1.0:0.0:0.0	.	651;678;667	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	N	667;651;678	ENSP00000351684:T667N;ENSP00000416800:T651N;ENSP00000236925:T678N	ENSP00000236925:T678N	T	+	2	0	CAMSAP1L1	199084520	1.000000	0.71417	0.506000	0.27664	0.973000	0.67179	4.614000	0.61183	2.546000	0.85860	0.655000	0.94253	ACT	CAMSAP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087034.2		+	ENST00000358823.2	Missense_Mutation	SNP	1 : 200817897 - 200817897 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	466	135
PKHD1L1	93035	broad.mit.edu	37	8	110457518	110457518	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110457518T>C	ENST00000378402.5	+	38	5524	c.5420T>C	c.(5419-5421)gTt>gCt	p.V1807A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1807	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCTCTCCCAGTTGGACATCAT	0.453		NA								HNSCC(38;0.096)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	117	119			NA	NA	8		NA											NA				110457518		1966	4172	6138	SO:0001583	missense			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038	93035	93035			20313	protein-coding gene	gene with protein product		607843			NA	12620974	Standard	NM_177531	NM_177531	NA	Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5420T>C	8.37:g.110457518T>C	ENSP00000367655:p.Val1807Ala	NA	Q567P2|Q9UF27	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	T	2.733	-0.263898	0.05754	.	.	ENSG00000205038	ENST00000378402	T	0.75050	-0.9	6.03	5.15	0.70609	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.061993	0.64402	N	0.000005	T	0.42223	0.1193	N	0.01228	-0.945	0.34605	D	0.716951	B	0.02656	0.0	B	0.06405	0.002	T	0.50558	-0.8814	10	0.02654	T	1	.	12.3253	0.55007	0.0:0.9171:0.0:0.0829	.	1807	Q86WI1	PKHL1_HUMAN	A	1807	ENSP00000367655:V1807A	ENSP00000367655:V1807A	V	+	2	0	PKHD1L1	110526694	0.999000	0.42202	0.988000	0.46212	0.394000	0.30568	2.764000	0.47613	1.532000	0.49169	-0.242000	0.12053	GTT	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381017.1		+	ENST00000378402.5	Missense_Mutation	SNP	8 : 110457518 - 110457518 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	471	97
DAAM1	23002	broad.mit.edu	37	14	59835462	59835462	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59835462G>T	ENST00000395125.1	+	25	3145	c.3122G>T	c.(3121-3123)cGc>cTc	p.R1041L	DAAM1_ENST00000360909.3_Missense_Mutation_p.R1031L|DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000351081.1_Missense_Mutation_p.R1041L	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	1041	DAD.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TCAGCTTTACGCTCAGGAGAA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	118	120			NA	NA	14		NA											NA				59835462		2203	4300	6503	SO:0001583	missense			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592	23002	23002			18142	protein-coding gene	gene with protein product		606626			NA	11779461, 18162551	Standard	NM_014992	NM_014992	NA	Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.3122G>T	14.37:g.59835462G>T	ENSP00000378557:p.Arg1041Leu	NA	Q86U34|Q8N1Z8|Q8TB39	37	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842526	0.91197	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000395125	D;D;D	0.82344	-1.6;-1.6;-1.6	5.64	5.64	0.86602	Actin-binding FH2/DRF autoregulatory (1);Diaphanous autoregulatory (1);	0.050738	0.85682	D	0.000000	D	0.91382	0.7281	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.91773	0.5429	10	0.87932	D	0	.	19.7154	0.96115	0.0:0.0:1.0:0.0	.	1031;1041	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	L	1031;1041;1041	ENSP00000354162:R1031L;ENSP00000247170:R1041L;ENSP00000378557:R1041L	ENSP00000247170:R1041L	R	+	2	0	DAAM1	58905215	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.807000	0.99171	2.664000	0.90586	0.655000	0.94253	CGC	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276942.2		+	ENST00000395125.1	Missense_Mutation	SNP	14 : 59835462 - 59835462 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	245	54
ADH7	131	broad.mit.edu	37	4	100341725	100341725	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100341725A>G	ENST00000437033.2	-	6	1293	c.790T>C	c.(790-792)Tac>Cac	p.Y264H	ADH7_ENST00000476959.1_Missense_Mutation_p.Y284H|ADH7_ENST00000482593.1_Missense_Mutation_p.Y207H|ADH7_ENST00000209665.4_Missense_Mutation_p.Y276H			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	276					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	TCAAAGGTGTATCCCACGTTG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	108	114			NA	NA	4		NA											NA				100341725		2203	4300	6503	SO:0001583	missense			X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	131	131	1.1.1.1	Alcohol dehydrogenases	256	protein-coding gene	gene with protein product		600086			NA	8195208	Standard	NM_000673	NM_000673	NA	Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000437033.2:c.790T>C	4.37:g.100341725A>G	ENSP00000414254:p.Tyr264His	NA	A2RRB6|B2R760|Q13713	37		.	.	.	.	.	.	.	.	.	.	A	16.40	3.112927	0.56398	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000482593;ENST00000476959	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	3.5	2.25	0.28309	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.434279	0.25202	N	0.032361	T	0.30070	0.0753	M	0.72353	2.195	0.25964	N	0.982585	B	0.31193	0.312	P	0.47346	0.544	T	0.22730	-1.0208	10	0.51188	T	0.08	-26.601	8.9963	0.36055	0.9081:0.0:0.0918:0.0	.	276	P40394	ADH7_HUMAN	H	264;276;207;284	ENSP00000414254:Y264H;ENSP00000209665:Y276H;ENSP00000420613:Y207H;ENSP00000420269:Y284H	ENSP00000209665:Y276H	Y	-	1	0	ADH7	100560748	0.426000	0.25506	0.000000	0.03702	0.281000	0.26958	5.249000	0.65427	0.489000	0.27749	0.460000	0.39030	TAC	ADH7-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000354562.1		-	ENST00000437033.2	Missense_Mutation	SNP	4 : 100341725 - 100341725 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	344	59
ATP2A2	488	broad.mit.edu	37	12	110784227	110784227	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110784227C>A	ENST00000539276.2	+	20	3190	c.3081C>A	c.(3079-3081)atC>atA	p.I1027I	ATP2A2_ENST00000395494.2_Silent_p.I1000I|ATP2A2_ENST00000308664.6_Intron			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	1027					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CCCTGGTGATCTGGGTCTATA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	75	79			NA	NA	12		NA											NA				110784227		2203	4300	6503	SO:0001819	synonymous_variant				CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	488	488	3.6.3.8	ATPases / P-type	812	protein-coding gene	gene with protein product	sarcoplasmic/endoplasmic reticulum calcium ATPase 2, calcium pump 2	108740		ATP2B, DAR	NA	10080178	Standard	NM_001681	NM_170665	NA	Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.3081C>A	12.37:g.110784227C>A		NA	A6NDN7|B4DF05|P16614|Q86VJ2	37	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	C	5.578	0.291400	0.10567	.	.	ENSG00000174437	ENST00000548169	.	.	.	6.07	4.22	0.49857	.	.	.	.	.	T	0.57184	0.2036	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52909	-0.8512	4	.	.	.	.	7.1602	0.25659	0.1312:0.6775:0.126:0.0653	.	.	.	.	M	918	.	.	L	+	1	2	ATP2A2	109268610	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.251000	0.43187	0.862000	0.35528	0.655000	0.94253	CTG	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403539.1		+	ENST00000539276.2	Silent	SNP	12 : 110784227 - 110784227 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	386	112
RNF219	79596	broad.mit.edu	37	13	79190435	79190435	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:79190435C>T	ENST00000282003.6	-	6	1519	c.1461G>A	c.(1459-1461)acG>acA	p.T487T	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	487	Ser-rich.						zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		AATTTGCTATCGTGTTCCCCT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		2,4404	4.2+/-10.8	0,2,2201	49	53	52		1461	-9	0.2	13		52	0,8600		0,0,4300	no	coding-synonymous	RNF219	NM_024546.3		0,2,6501	TT,TC,CC	NA	0.0,0.0454,0.0154		487/727	79190435	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193	79596	79596		RING-type (C3HC4) zinc fingers	20308	protein-coding gene	gene with protein product		615906	chromosome 13 open reading frame 7	C13orf7	NA		Standard	NM_024546	XM_006719865	NA	Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.1461G>A	13.37:g.79190435C>T		NA	B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	37	CCDS31997.1																																																																																			RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045363.1		-	ENST00000282003.6	Silent	SNP	13 : 79190435 - 79190435 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	48
DNAH6	1768	broad.mit.edu	37	2	84811238	84811238	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:84811238C>T	ENST00000237449.6	+	14	2353	c.2345C>T	c.(2344-2346)tCc>tTc	p.S782F	DNAH6_ENST00000398278.2_Missense_Mutation_p.S782F|DNAH6_ENST00000389394.3_Missense_Mutation_p.S782F			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	782	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATGAAGCCATCCATTGTTGCT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													200	189	193			NA	NA	2		NA											NA				84811238		2203	4300	6503	SO:0001583	missense			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423	1768	1768		Axonemal dyneins	2951	protein-coding gene	gene with protein product		603336	dynein, axonemal, heavy polypeptide 6, dynein heavy chain-like 1	DNHL1	NA	8812413	Standard	NM_001370	NM_001370	NA	Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.2345C>T	2.37:g.84811238C>T	ENSP00000237449:p.Ser782Phe	NA	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	37	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	C	8.840	0.942038	0.18281	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.26373	1.74;1.87;1.74	5.73	5.73	0.89815	.	0.000000	0.43416	D	0.000567	T	0.43964	0.1271	L	0.55481	1.735	0.39048	D	0.960261	B;D	0.76494	0.022;0.999	B;D	0.69479	0.014;0.964	T	0.15636	-1.0430	10	0.10111	T	0.7	.	18.6655	0.91488	0.0:1.0:0.0:0.0	.	782;361	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	F	782	ENSP00000374045:S782F;ENSP00000381326:S782F;ENSP00000237449:S782F	ENSP00000237449:S782F	S	+	2	0	DNAH6	84664749	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	4.271000	0.58902	2.700000	0.92200	0.591000	0.81541	TCC	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328537.2		+	ENST00000237449.6	Missense_Mutation	SNP	2 : 84811238 - 84811238 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	823	185
GOLGB1	2804	broad.mit.edu	37	3	121414124	121414124	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121414124G>T	ENST00000393667.3	-	13	5356	c.5246C>A	c.(5245-5247)tCt>tAt	p.S1749Y	GOLGB1_ENST00000340645.5_Missense_Mutation_p.S1744Y	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1744					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.S1744C(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGACATTAAAGACTGAAACTT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	breast(1)											112	109	110			NA	NA	3		NA											NA				121414124		2203	4300	6503	SO:0001583	missense			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230	2804	2804			4429	protein-coding gene	gene with protein product	macrogolgin, golgi integral membrane protein 1	602500	golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1, golgin B1, golgi integral membrane protein		NA	7691276, 15004235	Standard	NM_004487	NM_001256486	NA	Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000393667.3:c.5246C>A	3.37:g.121414124G>T	ENSP00000377275:p.Ser1749Tyr	NA	D3DN92|Q14398	37	CCDS58847.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.864786	0.00547	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.15139	2.45;2.45	5.62	0.644	0.17776	.	0.851473	0.10173	N	0.706812	T	0.06781	0.0173	N	0.08118	0	0.09310	N	1	P;P;P;B	0.38711	0.643;0.643;0.643;0.4	B;B;B;B	0.34301	0.179;0.179;0.179;0.169	T	0.24154	-1.0168	10	0.62326	D	0.03	.	1.697	0.02864	0.1462:0.2559:0.3346:0.2633	.	1669;1749;1749;1744	F1T0J2;E7EP74;B2ZZ91;Q14789	.;.;.;GOGB1_HUMAN	Y	1744;1749	ENSP00000341848:S1744Y;ENSP00000377275:S1749Y	ENSP00000341848:S1744Y	S	-	2	0	GOLGB1	122896814	0.004000	0.15560	0.023000	0.16930	0.006000	0.05464	0.999000	0.29757	-0.175000	0.10725	-0.309000	0.09137	TCT	GOLGB1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355160.1		-	ENST00000393667.3	Missense_Mutation	SNP	3 : 121414124 - 121414124 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	548	26
FAM160B2	64760	broad.mit.edu	37	8	21955759	21955759	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21955759C>A	ENST00000289921.7	+	6	752	c.706C>A	c.(706-708)Ctg>Atg	p.L236M		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	236										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						GACCGAGGAGCTGGACGGTGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	43	41			NA	NA	8		NA											NA				21955759		2049	4191	6240	SO:0001583	missense			AK025454	CCDS6021.2	8p21.3	2012-11-30	2008-06-05	2008-06-05	ENSG00000158863	ENSG00000158863	64760	64760			16492	protein-coding gene	gene with protein product			retinoic acid induced 16	RAI16	NA	22971576, 15626329	Standard		XR_247128	NA	Approved	FLJ21801	uc011kyx.2	Q86V87	OTTHUMG00000097088	ENST00000289921.7:c.706C>A	8.37:g.21955759C>A	ENSP00000289921:p.Leu236Met	NA	B2RDQ5|B3KNX1|Q2M211|Q71JB5|Q7L3J6|Q969T0|Q9H6W4	37	CCDS6021.2	.	.	.	.	.	.	.	.	.	.	.	13.92	2.380408	0.42207	.	.	ENSG00000158863	ENST00000289921	T	0.30182	1.54	5.07	4.17	0.49024	.	0.628857	0.16973	N	0.192038	T	0.30885	0.0779	N	0.22421	0.69	0.22389	N	0.999147	P	0.34892	0.474	P	0.46419	0.516	T	0.25710	-1.0124	10	0.49607	T	0.09	-2.3581	10.7464	0.46183	0.1901:0.8099:0.0:0.0	.	236	Q86V87	F16B2_HUMAN	M	236	ENSP00000289921:L236M	ENSP00000289921:L236M	L	+	1	2	FAM160B2	22011705	0.891000	0.30450	0.272000	0.24630	0.018000	0.09664	1.361000	0.34136	1.089000	0.41292	0.561000	0.74099	CTG	FAM160B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375334.2		+	ENST00000289921.7	Missense_Mutation	SNP	8 : 21955759 - 21955759 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	85	16
TAF4B	6875	broad.mit.edu	37	18	23866093	23866093	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:23866093C>A	ENST00000269142.5	+	7	2218	c.1220C>A	c.(1219-1221)gCt>gAt	p.A407D	TAF4B_ENST00000400466.2_Missense_Mutation_p.A407D|TAF4B_ENST00000578121.1_Missense_Mutation_p.A407D	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	407					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			GGAGCAAAAGCTGGAGTTGTG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	81	81			NA	NA	18		NA											NA				23866093		1942	4169	6111	SO:0001583	missense			Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384	6875	6875			11538	protein-coding gene	gene with protein product	TATA box binding protein (TBP)-associated factor 4B	601689	TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD	TAF2C2	NA	8858156, 10849440	Standard	NM_005640	XM_005258339	NA	Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.1220C>A	18.37:g.23866093C>A	ENSP00000269142:p.Ala407Asp	NA	Q29YA4|Q29YA5	37	CCDS42421.1	.	.	.	.	.	.	.	.	.	.	c	11.25	1.584104	0.28268	.	.	ENSG00000141384	ENST00000418698;ENST00000269142;ENST00000400466	T;T;T	0.26223	1.75;1.82;1.75	5.7	4.78	0.61160	.	0.899725	0.09484	N	0.795943	T	0.17662	0.0424	N	0.19112	0.55	0.19300	N	0.999973	B;B	0.28128	0.201;0.079	B;B	0.26614	0.034;0.071	T	0.08046	-1.0741	10	0.12430	T	0.62	-0.3601	13.5144	0.61533	0.0:0.8297:0.1703:0.0	.	407;407	Q92750;A4PBF7	TAF4B_HUMAN;.	D	407	ENSP00000389365:A407D;ENSP00000269142:A407D;ENSP00000383314:A407D	ENSP00000269142:A407D	A	+	2	0	TAF4B	22120091	0.540000	0.26410	0.969000	0.41365	0.991000	0.79684	1.318000	0.33643	2.701000	0.92244	0.552000	0.68991	GCT	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000446260.3		+	ENST00000269142.5	Missense_Mutation	SNP	18 : 23866093 - 23866093 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	405	65
DBN1	1627	broad.mit.edu	37	5	176885542	176885542	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176885542G>A	ENST00000393565.1	-	13	1546	c.1431C>T	c.(1429-1431)gtC>gtT	p.V477V	DBN1_ENST00000292385.5_Silent_p.V433V|DBN1_ENST00000512501.1_Silent_p.V163V|DBN1_ENST00000309007.5_Silent_p.V431V|DBN1_ENST00000393563.4_Silent_p.V163V			Q16643	DREB_HUMAN	drebrin 1	431					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGCAGCCAGGACAGCCTGCT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	80	76			NA	NA	5		NA											NA				176885542		2203	4300	6503	SO:0001819	synonymous_variant				CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758	1627	1627			2695	protein-coding gene	gene with protein product		126660		D0S117E	NA	8216329	Standard	NM_080881	NM_004395	NA	Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000393565.1:c.1431C>T	5.37:g.176885542G>A		NA	B2RBG0|Q9UFZ5	37																																																																																				DBN1-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000258887.1		-	ENST00000393565.1	Silent	SNP	5 : 176885542 - 176885542 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	482	65
CARD9	64170	broad.mit.edu	37	9	139264220	139264220	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139264220G>A	ENST00000371732.5	-	7	1224	c.1059C>T	c.(1057-1059)gtC>gtT	p.V353V	CARD9_ENST00000371734.3_Silent_p.V353V|CARD9_ENST00000315908.7_Silent_p.V353V	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	353					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		GCTCAATGGCGACCTCCTCCA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	2,4388	4.2+/-10.8	0,2,2193	106	70	82		1059,1059	-7.8	0	9		82	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous	CARD9	NM_052813.4,NM_052814.3	,	0,2,6491	AA,AG,GG	NA	0.0,0.0456,0.0154	,	353/537,353/493	139264220	2,12984	2195	4298	6493	SO:0001819	synonymous_variant			AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796	64170	64170			16391	protein-coding gene	gene with protein product		607212			NA	11053425	Standard	NM_052813	NM_052813	NA	Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.1059C>T	9.37:g.139264220G>A		NA	Q5SXM6|Q9H854	37	CCDS6997.1																																																																																			CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055053.1		-	ENST00000371732.5	Silent	SNP	9 : 139264220 - 139264220 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	96	17
ALDH1L2	160428	broad.mit.edu	37	12	105431901	105431901	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:105431901G>A	ENST00000258494.9	-	18	2265	c.2125C>T	c.(2125-2127)Ctt>Ttt	p.L709F	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	709	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						GCCTTGTCAAGTTCACAGTCA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	85	87			NA	NA	12		NA											NA				105431901		2203	4300	6503	SO:0001583	missense			AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	160428	160428	1.5.1.6	Aldehyde dehydrogenases	26777	protein-coding gene	gene with protein product	mitochondrial 10-formyltetrahydrofolate dehydrogenase	613584			NA	20498374	Standard	XM_090294	NM_001034173	NA	Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.2125C>T	12.37:g.105431901G>A	ENSP00000258494:p.Leu709Phe	NA	Q3SY68|Q68D62|Q6AI55|Q8N922	37	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090850	0.76756	.	.	ENSG00000136010	ENST00000258494	T	0.80653	-1.4	5.47	3.62	0.41486	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.153962	0.64402	D	0.000019	D	0.85813	0.5784	M	0.75447	2.3	0.80722	D	1	D	0.57899	0.981	P	0.54372	0.75	D	0.86615	0.1875	10	0.62326	D	0.03	.	14.7689	0.69659	0.0:0.0:0.737:0.263	.	709	Q3SY69	AL1L2_HUMAN	F	709	ENSP00000258494:L709F	ENSP00000258494:L709F	L	-	1	0	ALDH1L2	103956031	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.506000	0.53364	0.647000	0.30713	0.650000	0.86243	CTT	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406098.1		-	ENST00000258494.9	Missense_Mutation	SNP	12 : 105431901 - 105431901 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	74
CNTNAP2	26047	broad.mit.edu	37	7	147844744	147844744	+	Missense_Mutation	SNP	C	C	T	rs141617212		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:147844744C>T	ENST00000361727.3	+	17	3232	c.2716C>T	c.(2716-2718)Cgc>Tgc	p.R906C	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	906	Laminin G-like 3.		R -> H.		behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCAGCAGATCCGCAAGGCCCC	0.562		NA								HNSCC(39;0.1)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	72	68	69		2716	5.5	1	7	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	missense	CNTNAP2	NM_014141.5	180	0,2,6501	TT,TC,CC	NA	0.0116,0.0227,0.0154	probably-damaging	906/1332	147844744	2,13004	2203	4300	6503	SO:0001583	missense			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469	26047	26047			13830	protein-coding gene	gene with protein product		604569			NA	10624965, 10048485	Standard		NM_014141	NA	Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2716C>T	7.37:g.147844744C>T	ENSP00000354778:p.Arg906Cys	NA	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	37	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566564	0.86439	2.27E-4	1.16E-4	ENSG00000174469	ENST00000361727	T	0.78707	-1.2	5.49	5.49	0.81192	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.90195	0.6935	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.91397	0.5140	10	0.56958	D	0.05	.	17.9875	0.89159	0.0:1.0:0.0:0.0	.	906	Q9UHC6	CNTP2_HUMAN	C	906	ENSP00000354778:R906C	ENSP00000354778:R906C	R	+	1	0	CNTNAP2	147475677	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	2.369000	0.44231	2.583000	0.87209	0.561000	0.74099	CGC	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327668.1		+	ENST00000361727.3	Missense_Mutation	SNP	7 : 147844744 - 147844744 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	512	83
RASAL2	9462	broad.mit.edu	37	1	178408655	178408655	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178408655C>A	ENST00000462775.1	+	4	454	c.329C>A	c.(328-330)cCt>cAt	p.P110H	RASAL2_ENST00000367649.3_Missense_Mutation_p.P258H|RASAL2_ENST00000448150.3_Missense_Mutation_p.P240H	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	110	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AGAGGGGAACCTGTATCAGTG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	130	135			NA	NA	1		NA											NA				178408655		2203	4300	6503	SO:0001583	missense			AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391	9462	9462		Pleckstrin homology (PH) domain containing	9874	protein-coding gene	gene with protein product	Ras GTPase activating protein-like, Ras protein activator like 1	606136			NA	9877179	Standard	NM_170692	NM_004841	NA	Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.329C>A	1.37:g.178408655C>A	ENSP00000420558:p.Pro110His	NA	O95174|Q5TFU9	37	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345162	0.41498	.	.	ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775	D;D;D	0.93366	-3.21;-3.21;-3.21	6.17	6.17	0.99709	Pleckstrin homology domain (1);	0.247592	0.38164	N	0.001796	D	0.88138	0.6356	N	0.22421	0.69	0.28191	N	0.927767	B;P	0.44946	0.375;0.846	B;B	0.41202	0.139;0.35	D	0.85085	0.0948	10	0.72032	D	0.01	.	11.4783	0.50310	0.2266:0.6573:0.116:0.0	.	110;258	Q9UJF2;F8W755	NGAP_HUMAN;.	H	240;258;110	ENSP00000407768:P240H;ENSP00000356621:P258H;ENSP00000420558:P110H	ENSP00000356621:P258H	P	+	2	0	RASAL2	176675278	0.996000	0.38824	0.974000	0.42286	0.684000	0.39900	3.478000	0.53158	2.941000	0.99782	0.655000	0.94253	CCT	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084758.3		+	ENST00000462775.1	Missense_Mutation	SNP	1 : 178408655 - 178408655 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	484	56
ELMO1	9844	broad.mit.edu	37	7	36901286	36901286	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36901286A>C	ENST00000310758.4	-	21	2608	c.1961T>G	c.(1960-1962)tTc>tGc	p.F654C	ELMO1_ENST00000341056.3_Missense_Mutation_p.F356C|ELMO1_ENST00000396045.3_Missense_Mutation_p.F174C|ELMO1_ENST00000442504.1_Missense_Mutation_p.F654C|ELMO1_ENST00000396040.2_Missense_Mutation_p.F174C|ELMO1_ENST00000448602.1_Missense_Mutation_p.F654C	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	654	PH.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						AGGAGCGATGAAGTTCAGTTG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	169	171			NA	NA	7		NA											NA				36901286		2203	4300	6503	SO:0001583	missense			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849	9844	9844		Engulfment and cell motility proteins	16286	protein-coding gene	gene with protein product		606420	engulfment and cell motility 1 (ced-12 homolog, C. elegans)		NA	11595183	Standard	NM_130442	NM_001039459	NA	Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1961T>G	7.37:g.36901286A>C	ENSP00000312185:p.Phe654Cys	NA	A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	37	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.516722	0.85495	.	.	ENSG00000155849	ENST00000341056;ENST00000396045;ENST00000310758;ENST00000361912;ENST00000396040;ENST00000442504;ENST00000448602	T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.41	5.41	0.78517	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.80939	0.4720	M	0.83692	2.655	0.80722	D	1	D	0.61697	0.99	P	0.59643	0.861	D	0.84087	0.0388	10	0.66056	D	0.02	.	15.7652	0.78120	1.0:0.0:0.0:0.0	.	654	Q92556	ELMO1_HUMAN	C	356;174;654;558;174;654;654	ENSP00000342142:F356C;ENSP00000379360:F174C;ENSP00000312185:F654C;ENSP00000379355:F174C;ENSP00000406952:F654C;ENSP00000394458:F654C	ENSP00000312185:F654C	F	-	2	0	ELMO1	36867811	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.339000	0.96797	2.188000	0.69820	0.533000	0.62120	TTC	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219830.4		-	ENST00000310758.4	Missense_Mutation	SNP	7 : 36901286 - 36901286 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	930	178
UBTD2	92181	broad.mit.edu	37	5	171638856	171638856	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171638856T>C	ENST00000393792.2	-	3	1088	c.683A>G	c.(682-684)aAc>aGc	p.N228S		NM_152277.2	NP_689490.2	Q8WUN7	UBTD2_HUMAN	ubiquitin domain containing 2	228						cytoplasm				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGTGTTGGGTTCTGCACAGG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	46	48			NA	NA	5		NA											NA				171638856		2203	4300	6503	SO:0001583	missense			AF251700	CCDS4379.2	5q35.1	2008-10-30			ENSG00000168246	ENSG00000168246	92181	92181			24463	protein-coding gene	gene with protein product	dendritic cell derived ubiquitin like protein	610174			NA	12507522	Standard	NM_152277	NM_152277	NA	Approved	DC-UbP, MGC30022	uc003mbp.1	Q8WUN7	OTTHUMG00000130519	ENST00000393792.2:c.683A>G	5.37:g.171638856T>C	ENSP00000377381:p.Asn228Ser	NA	Q8TDQ3	37	CCDS4379.2	.	.	.	.	.	.	.	.	.	.	T	4.827	0.153697	0.09185	.	.	ENSG00000168246	ENST00000393792	T	0.42513	0.97	5.96	-2.33	0.06724	.	0.396616	0.32204	N	0.006425	T	0.24084	0.0583	L	0.36672	1.1	0.23095	N	0.998302	B	0.02656	0.0	B	0.01281	0.0	T	0.11817	-1.0572	10	0.24483	T	0.36	.	5.6948	0.17849	0.0:0.2646:0.2396:0.4957	.	228	Q8WUN7	UBTD2_HUMAN	S	228	ENSP00000377381:N228S	ENSP00000377381:N228S	N	-	2	0	UBTD2	171571461	1.000000	0.71417	0.035000	0.18076	0.560000	0.35617	0.891000	0.28309	-0.635000	0.05531	-0.250000	0.11733	AAC	UBTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252936.1		-	ENST00000393792.2	Missense_Mutation	SNP	5 : 171638856 - 171638856 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	299	61
TRPM1	4308	broad.mit.edu	37	15	31329913	31329913	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31329913C>A	ENST00000397795.2	-	19	2619		c.e19+1		TRPM1_ENST00000542188.1_Splice_Site|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Splice_Site	NM_002420.5	NP_002411.3	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	NA					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	p.?(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGAGGCCTCACTGTGTAAAAC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Unknown(1)	lung(1)											148	131	137			NA	NA	15		NA											NA				31329913		1869	4106	5975	SO:0001630	splice_region_variant			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160	4308	4308		Voltage-gated ion channels / Transient receptor potential cation channels	7146	protein-coding gene	gene with protein product		603576	melastatin 1	MLSN1	NA	9806836, 9537257, 16382100	Standard	NM_002420	NM_001252020	NA	Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000397795.2:c.2505+1G>T	15.37:g.31329913C>A		NA	O75560|Q7Z4N1|Q7Z4N3|Q7Z4N4|Q7Z4N5	37	CCDS10024.2	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772569	0.69992	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0384	0.89312	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRPM1	29117205	1.000000	0.71417	0.976000	0.42696	0.694000	0.40290	7.776000	0.85560	2.420000	0.82092	0.655000	0.94253	.	TRPM1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251378.1	Intron	-	ENST00000397795.2	Splice_Site	SNP	15 : 31329913 - 31329913 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	477	95
NLRP11	204801	broad.mit.edu	37	19	56320642	56320642	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56320642C>T	ENST00000589093.1	-	3	1427	c.1334G>A	c.(1333-1335)cGt>cAt	p.R445H	NLRP11_ENST00000592953.1_Missense_Mutation_p.R346H|NLRP11_ENST00000589824.2_Missense_Mutation_p.R445H|NLRP11_ENST00000360133.3_Missense_Mutation_p.R445H|NLRP11_ENST00000443188.1_Missense_Mutation_p.R445H			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	445	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GAACTTGTAACGGTCTTTATG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	63	63			NA	NA	19		NA											NA				56320642		2203	4300	6503	SO:0001583	missense			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873	204801	204801		Nucleotide-binding domain and leucine rich repeat containing	22945	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11	609664	NACHT, leucine rich repeat and PYD containing 11	NALP11	NA	12563287, 12019269	Standard	NM_145007	NM_145007	NA	Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.1334G>A	19.37:g.56320642C>T	ENSP00000466285:p.Arg445His	NA	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	37	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	C	1.474	-0.559011	0.03967	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.74209	-0.82;-0.75	2.2	-3.03	0.05429	.	.	.	.	.	T	0.42177	0.1191	N	0.03608	-0.345	0.09310	N	1	B;B	0.27997	0.125;0.197	B;B	0.26864	0.019;0.074	T	0.30880	-0.9963	9	0.15066	T	0.55	.	4.319	0.11007	0.0:0.4651:0.2116:0.3233	.	445;445	P59045;P59045-2	NAL11_HUMAN;.	H	445	ENSP00000409898:R445H;ENSP00000353251:R445H	ENSP00000353251:R445H	R	-	2	0	NLRP11	61012454	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.077000	0.00082	-0.957000	0.03627	-0.302000	0.09304	CGT	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453657.1		-	ENST00000589093.1	Missense_Mutation	SNP	19 : 56320642 - 56320642 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	347	68
C6orf58	352999	broad.mit.edu	37	6	127898440	127898440	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127898440C>A	ENST00000329722.7	+	1	122	c.110C>A	c.(109-111)cCt>cAt	p.P37H	C6orf58_ENST00000498112.1_Intron	NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	37						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		AAGGAGAGTCCTGGTCAGCTC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	126	124			NA	NA	6		NA											NA				127898440		2203	4300	6503	SO:0001583	missense			BC062712	CCDS34533.1	6q22.33	2011-12-13			ENSG00000184530	ENSG00000184530	352999	352999			20960	protein-coding gene	gene with protein product					NA		Standard	NM_001010905	NM_001010905	NA	Approved		uc003qbh.4	Q6P5S2	OTTHUMG00000015530	ENST00000329722.7:c.110C>A	6.37:g.127898440C>A	ENSP00000328069:p.Pro37His	NA	B4E1I0|Q5VUP2	37	CCDS34533.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747510	0.69533	.	.	ENSG00000184530	ENST00000329722	T	0.52983	0.64	5.24	4.37	0.52481	.	0.255048	0.39083	N	0.001480	T	0.61788	0.2375	M	0.83012	2.62	0.37613	D	0.920992	D	0.89917	1.0	D	0.80764	0.994	T	0.70865	-0.4756	10	0.87932	D	0	-17.8447	12.7508	0.57308	0.0:0.9185:0.0:0.0815	.	37	Q6P5S2	CF058_HUMAN	H	37	ENSP00000328069:P37H	ENSP00000328069:P37H	P	+	2	0	C6orf58	127940133	0.503000	0.26115	0.704000	0.30370	0.959000	0.62525	1.480000	0.35464	1.216000	0.43427	0.655000	0.94253	CCT	C6orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042152.1		+	ENST00000329722.7	Missense_Mutation	SNP	6 : 127898440 - 127898440 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	500	94
TRIP6	7205	broad.mit.edu	37	7	100470879	100470879	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100470879C>A	ENST00000200457.4	+	9	1745	c.1385C>A	c.(1384-1386)gCc>gAc	p.A462D		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	462	LIM zinc-binding 3.				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCCTGCAGCGCCTGGCGCATC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	79	82			NA	NA	7		NA											NA				100470879		2203	4300	6503	SO:0001583	missense			L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077	7205	7205			12311	protein-coding gene	gene with protein product		602933			NA	9598321, 7776974	Standard	NM_003302	NM_003302	NA	Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.1385C>A	7.37:g.100470879C>A	ENSP00000200457:p.Ala462Asp	NA	A4D2E7|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	37	CCDS5708.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742577	0.89573	.	.	ENSG00000087077	ENST00000200457	T	0.60424	0.19	4.37	4.37	0.52481	Zinc finger, LIM-type (1);	0.000000	0.85682	D	0.000000	T	0.72503	0.3468	M	0.66297	2.02	0.80722	D	1	D	0.71674	0.998	D	0.72625	0.978	T	0.74688	-0.3581	10	0.52906	T	0.07	.	14.4634	0.67467	0.0:1.0:0.0:0.0	.	462	Q15654	TRIP6_HUMAN	D	462	ENSP00000200457:A462D	ENSP00000200457:A462D	A	+	2	0	TRIP6	100308815	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.709000	0.68384	2.268000	0.75426	0.561000	0.74099	GCC	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347151.2		+	ENST00000200457.4	Missense_Mutation	SNP	7 : 100470879 - 100470879 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	530	81
CACNA1D	776	broad.mit.edu	37	3	53699719	53699719	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53699719G>A	ENST00000422281.2	+	6	799	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	CACNA1D_ENST00000350061.5_Missense_Mutation_p.A267T|CACNA1D_ENST00000288139.4_Missense_Mutation_p.A267T	NM_001128839.1	NP_001122311.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	267					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CATTATAAAAGCCATGGTTCC	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	139	139			NA	NA	3		NA											NA				53699719		2203	4300	6503	SO:0001583	missense			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388	776	776		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2	NA	1664412	Standard	NM_000720	NM_000720	NA	Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000422281.2:c.799G>A	3.37:g.53699719G>A	ENSP00000409174:p.Ala267Thr	NA	Q13916|Q13931|Q9UDC3	37	CCDS46849.1	.	.	.	.	.	.	.	.	.	.	G	33	5.234915	0.95207	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281	D;D;D	0.98512	-4.97;-4.97;-4.97	5.08	5.08	0.68730	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98982	0.9653	M	0.83384	2.64	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.996	D	0.99819	1.1046	10	0.87932	D	0	.	18.6572	0.91458	0.0:0.0:1.0:0.0	.	267;267;267	B0FYA3;Q01668;Q01668-2	.;CAC1D_HUMAN;.	T	267	ENSP00000288133:A267T;ENSP00000288139:A267T;ENSP00000409174:A267T	ENSP00000288139:A267T	A	+	1	0	CACNA1D	53674759	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.630000	0.89119	0.655000	0.94253	GCC	CACNA1D-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350556.1		+	ENST00000422281.2	Missense_Mutation	SNP	3 : 53699719 - 53699719 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	652	107
ZFHX3	463	broad.mit.edu	37	16	72829708	72829708	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72829708C>A	ENST00000268489.5	-	9	7545	c.6873G>T	c.(6871-6873)caG>caT	p.Q2291H	ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q1377H	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2291					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GTCGGGCATTCTGAAACCACA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	148	147			NA	NA	16		NA											NA				72829708		2198	4300	6498	SO:0001583	missense			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836	463	463		Zinc fingers, C2H2-type, Homeoboxes / ZF class	777	protein-coding gene	gene with protein product		104155	AT-binding transcription factor 1	ATBF1	NA	1719379, 7592926	Standard	NM_006885	NM_006885	NA	Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.6873G>T	16.37:g.72829708C>A	ENSP00000268489:p.Gln2291His	NA	D3DWS8|O15101|Q13719	37	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.246188	0.39697	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	D;D	0.97688	-4.49;-4.49	5.65	0.87	0.19102	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.47852	D	0.000215	D	0.99077	0.9683	H	0.98577	4.27	0.53688	D	0.99997	D	0.69078	0.997	D	0.85130	0.997	D	0.98597	1.0657	10	0.87932	D	0	.	10.672	0.45764	0.0:0.7574:0.0:0.2426	.	2291	Q15911	ZFHX3_HUMAN	H	2291;1377	ENSP00000268489:Q2291H;ENSP00000438926:Q1377H	ENSP00000268489:Q2291H	Q	-	3	2	ZFHX3	71387209	0.848000	0.29623	1.000000	0.80357	0.998000	0.95712	-0.028000	0.12350	0.189000	0.20188	0.561000	0.74099	CAG	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269008.1		-	ENST00000268489.5	Missense_Mutation	SNP	16 : 72829708 - 72829708 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1021	187
NCOA6	23054	broad.mit.edu	37	20	33345486	33345486	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33345486C>T	ENST00000374796.2	-	8	3635	c.1065G>A	c.(1063-1065)caG>caA	p.Q355Q	NCOA6_ENST00000359003.2_Silent_p.Q355Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	355	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CCTGGAGTTGCTGTTGCATTG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	86	87			NA	NA	20		NA											NA				33345486		2203	4300	6503	SO:0001819	synonymous_variant			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646	23054	23054			15936	protein-coding gene	gene with protein product	nuclear receptor coactivator RAP250, activating signal cointegrator-2, peroxisome proliferator-activated receptor interacting protein	605299			NA	8724849, 8263591	Standard	NM_014071	NM_014071	NA	Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.1065G>A	20.37:g.33345486C>T		NA	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	37	CCDS13241.1																																																																																			NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078811.2		-	ENST00000374796.2	Silent	SNP	20 : 33345486 - 33345486 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	491	77
UTF1	8433	broad.mit.edu	37	10	135044789	135044789	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135044789C>T	ENST00000304477.2	+	2	884	c.869C>T	c.(868-870)gCg>gTg	p.A290V		NM_003577.2	NP_003568.2	Q5T230	UTF1_HUMAN	undifferentiated embryonic cell transcription factor 1	290	Leucine-zipper.				male gonad development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein binding|transcription coactivator activity			upper_aerodigestive_tract(1)	1		all_cancers(35;3.05e-07)|all_epithelial(44;6.22e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		GGCGACATCGCGAACATCCTG	0.746		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													7	8	8			NA	NA	10		NA											NA				135044789		2087	4137	6224	SO:0001583	missense			AB011076	CCDS31318.1	10q26	2008-07-04			ENSG00000171794	ENSG00000171794	8433	8433			12634	protein-coding gene	gene with protein product		604130			NA	9748258, 18281244	Standard		NM_003577	NA	Approved		uc001lmc.3	Q5T230	OTTHUMG00000019302	ENST00000304477.2:c.869C>T	10.37:g.135044789C>T	ENSP00000305906:p.Ala290Val	NA	O75833|Q6J1H3	37	CCDS31318.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.655222	0.00779	.	.	ENSG00000171794	ENST00000304477	T	0.20200	2.09	3.01	-3.48	0.04739	.	.	.	.	.	T	0.07458	0.0188	N	0.08118	0	0.18873	N	0.999988	B	0.14438	0.01	B	0.04013	0.001	T	0.41627	-0.9498	9	0.02654	T	1	-7.4131	9.1568	0.36998	0.0:0.6073:0.0:0.3927	.	290	Q5T230	UTF1_HUMAN	V	290	ENSP00000305906:A290V	ENSP00000305906:A290V	A	+	2	0	UTF1	134894779	0.020000	0.18652	0.015000	0.15790	0.137000	0.21094	-0.328000	0.07945	-0.559000	0.06110	-0.658000	0.03865	GCG	UTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051105.1		+	ENST00000304477.2	Missense_Mutation	SNP	10 : 135044789 - 135044789 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	69	10
TEX14	56155	broad.mit.edu	37	17	56679270	56679270	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56679270C>T	ENST00000389934.3	-	13	1692	c.1575G>A	c.(1573-1575)gtG>gtA	p.V525V	TEX14_ENST00000240361.8_Silent_p.V531V|TEX14_ENST00000349033.5_Silent_p.V525V	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	531						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CGTATCTCTGCACTCTGGGGC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	157	161			NA	NA	17		NA											NA				56679270		2203	4300	6503	SO:0001819	synonymous_variant			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101	56155	56155			11737	protein-coding gene	gene with protein product	cancer/testis antigen 113	605792	testis expressed sequence 14		NA	11279525, 12711554	Standard		NM_031272	NA	Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000389934.3:c.1575G>A	17.37:g.56679270C>T		NA	A6NH19|Q7RTP3|Q8ND97|Q9BXT9	37	CCDS32693.1																																																																																			TEX14-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445444.1		-	ENST00000389934.3	Silent	SNP	17 : 56679270 - 56679270 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	57
PHLPP1	23239	broad.mit.edu	37	18	60646154	60646154	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:60646154C>T	ENST00000262719.5	+	17	4878	c.4644C>T	c.(4642-4644)gaC>gaT	p.D1548D	PHLPP1_ENST00000400316.4_Silent_p.D1036D			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1548					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						TTGACAGTGACGATGAGGAGC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	44	43			NA	NA	18		NA											NA				60646154		2102	4211	6313	SO:0001819	synonymous_variant			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913	23239	23239		Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent, Pleckstrin homology (PH) domain containing	20610	protein-coding gene	gene with protein product		609396	pleckstrin homology domain containing, family E (with leucine rich repeats) member 1, PH domain and leucine rich repeat protein phosphatase	PLEKHE1, PHLPP	NA	10570941, 15808505	Standard	NM_194449	NM_194449	NA	Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.4644C>T	18.37:g.60646154C>T		NA	A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	37	CCDS45881.2																																																																																			PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319249.2		+	ENST00000262719.5	Silent	SNP	18 : 60646154 - 60646154 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	87	14
PHIP	55023	broad.mit.edu	37	6	79655978	79655978	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79655978C>A	ENST00000275034.4	-	38	4538		c.e38-1		PHIP_ENST00000479165.1_Splice_Site	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	NA					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CCTTTCAGGGCTGTAAATAAA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	136	134			NA	NA	6		NA											NA				79655978		2203	4300	6503	SO:0001630	splice_region_variant			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247	55023	55023		WD repeat domain containing, DDB1 and CUL4 associated factors	15673	protein-coding gene	gene with protein product	DDB1 and CUL4 associated factor 14	612870		WDR11	NA	11018022	Standard		NM_017934	NA	Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.4371-1G>T	6.37:g.79655978C>A		NA	B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	37	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.668108	0.67814	.	.	ENSG00000146247	ENST00000275034;ENST00000355098	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PHIP	79712697	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.343000	0.65976	2.941000	0.99782	0.655000	0.94253	.	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041297.2	Intron	-	ENST00000275034.4	Splice_Site	SNP	6 : 79655978 - 79655978 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	666	94
TPI1	7167	broad.mit.edu	37	12	6979528	6979528	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6979528T>G	ENST00000229270.4	+	7	1179	c.842T>G	c.(841-843)aTc>aGc	p.I281S	TPI1_ENST00000396705.5_Missense_Mutation_p.I244S|TPI1_ENST00000488464.2_Missense_Mutation_p.I162S|TPI1_ENST00000535434.1_Missense_Mutation_p.I162S	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	244					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						TTCGTGGACATCATCAATGCC	0.577		NA									OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	75	79			NA	NA	12		NA											NA				6979528		2203	4297	6500	SO:0001583	missense				CCDS8566.1, CCDS53740.1, CCDS58206.1	12p13.31	2012-10-02			ENSG00000111669	ENSG00000111669	7167	7167	5.3.1.1		12009	protein-coding gene	gene with protein product		190450			NA		Standard	NM_000365	NM_000365	NA	Approved		uc001qrk.4	P60174	OTTHUMG00000133767	ENST00000229270.4:c.842T>G	12.37:g.6979528T>G	ENSP00000229270:p.Ile281Ser	638	P00938|Q6FHP9|Q6IS07|Q8WWD0|Q96AG5	37	CCDS53740.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.687550	0.88639	.	.	ENSG00000111669	ENST00000229270;ENST00000396705;ENST00000535434	D;D;D	0.96073	-3.9;-3.9;-3.9	5.57	5.57	0.84162	.	0.000000	0.85682	U	0.000000	D	0.98738	0.9576	H	0.98936	4.375	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.99581	1.0973	10	0.87932	D	0	.	15.392	0.74751	0.0:0.0:0.0:1.0	.	281	P60174	TPIS_HUMAN	S	281;244;162	ENSP00000229270:I281S;ENSP00000379933:I244S;ENSP00000443599:I162S	ENSP00000229270:I281S	I	+	2	0	TPI1	6849789	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.944000	0.87722	2.117000	0.64856	0.459000	0.35465	ATC	TPI1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258252.1		+	ENST00000229270.4	Missense_Mutation	SNP	12 : 6979528 - 6979528 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	328	41
EHMT1	79813	broad.mit.edu	37	9	140611405	140611405	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140611405G>A	ENST00000462484.1	+	3	450	c.413G>A	c.(412-414)aGg>aAg	p.R138K	EHMT1_ENST00000460843.1_Missense_Mutation_p.R138K|EHMT1_ENST00000334856.6_Missense_Mutation_p.R107K|EHMT1_ENST00000371394.2_3'UTR	NM_001145527.1	NP_001138999.1	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	138					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CAGCCCTTGAGGACTACCAGC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	67	66			NA	NA	9		NA											NA				140611405		2202	4299	6501	SO:0001583	missense			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	79813	79813	2.1.1.43	Chromatin-modifying enzymes / K-methyltransferases, Ankyrin repeat domain containing	24650	protein-coding gene	gene with protein product		607001	euchromatic histone methyltransferase 1		NA	11347906, 12004135	Standard	NM_024757	NM_024757	NA	Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000462484.1:c.413G>A	9.37:g.140611405G>A	ENSP00000417328:p.Arg138Lys	NA	B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	37	CCDS56595.1	.	.	.	.	.	.	.	.	.	.	g	25.8	4.673887	0.88445	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.79033	0.74;-0.0;-1.23	6.0	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.86661	0.5986	M	0.67953	2.075	0.43160	D	0.99494	D;D;D	0.76494	0.986;0.997;0.999	D;D;D	0.81914	0.968;0.991;0.995	D	0.88340	0.2974	10	0.72032	D	0.01	.	15.5361	0.76004	0.0661:0.0:0.9339:0.0	.	138;107;138	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	K	107;107;138;138	ENSP00000334476:R107K;ENSP00000417328:R138K;ENSP00000417980:R138K	ENSP00000334476:R107K	R	+	2	0	EHMT1	139731226	1.000000	0.71417	0.240000	0.24138	0.958000	0.62258	6.610000	0.74178	1.567000	0.49668	0.639000	0.83563	AGG	EHMT1-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348982.1		+	ENST00000462484.1	Missense_Mutation	SNP	9 : 140611405 - 140611405 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	505	83
BCS1L	617	broad.mit.edu	37	2	219527252	219527252	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219527252C>T	ENST00000431802.1	+	6	1438	c.739C>T	c.(739-741)Ctg>Ttg	p.L247L	BCS1L_ENST00000465706.1_Intron|BCS1L_ENST00000439945.1_Silent_p.L247L|BCS1L_ENST00000392111.2_Silent_p.L247L|BCS1L_ENST00000412366.1_Silent_p.L247L|BCS1L_ENST00000392110.2_Silent_p.L247L|BCS1L_ENST00000359273.3_Silent_p.L247L|BCS1L_ENST00000392109.1_Silent_p.L247L			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	247					mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTGGGGAACTGGAGCACAG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	52	53			NA	NA	2		NA											NA				219527252		2203	4300	6503	SO:0001819	synonymous_variant			AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582	617	617		ATPases / AAA-type, Mitochondrial respiratory chain complex assembly factors	1020	protein-coding gene	gene with protein product	GRACILE syndrome, Bjornstad syndrome	603647	BCS1 (yeast homolog)-like, BCS1-like (yeast), BCS1-like (S. cerevisiae)		NA	9878253, 17314340	Standard	NM_004328	NM_001079866	NA	Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.739C>T	2.37:g.219527252C>T		NA	B3KTW9|Q7Z2V7	37	CCDS2419.1	.	.	.	.	.	.	.	.	.	.	C	8.365	0.833932	0.16820	.	.	ENSG00000074582	ENST00000426649	.	.	.	5.1	3.32	0.38043	.	.	.	.	.	T	0.57577	0.2063	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51949	-0.8640	4	.	.	.	-17.5927	7.9752	0.30151	0.0:0.691:0.0:0.309	.	.	.	.	I	28	.	.	T	+	2	0	BCS1L	219235496	0.998000	0.40836	0.995000	0.50966	0.973000	0.67179	0.985000	0.29578	0.753000	0.32945	-0.266000	0.10368	ACT	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336756.1		+	ENST00000431802.1	Silent	SNP	2 : 219527252 - 219527252 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	513	62
DYNC1H1	1778	broad.mit.edu	37	14	102505518	102505518	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102505518C>A	ENST00000360184.4	+	60	11551	c.11387C>A	c.(11386-11388)aCc>aAc	p.T3796N	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3796					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GAGGTGGAGACCGTGTCCCAG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	80	83			NA	NA	14		NA											NA				102505518		2203	4300	6503	SO:0001583	missense			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102	1778	1778		Cytoplasmic dyneins	2961	protein-coding gene	gene with protein product		600112	dynein, cytoplasmic, heavy polypeptide 1	DNECL, DNCL, DNCH1	NA	16260502, 8666668	Standard	NM_001376	NM_001376	NA	Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.11387C>A	14.37:g.102505518C>A	ENSP00000348965:p.Thr3796Asn	NA	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.945605	0.34377	.	.	ENSG00000197102	ENST00000360184	T	0.54479	0.57	5.97	5.08	0.68730	.	0.173614	0.56097	D	0.000029	T	0.44008	0.1273	L	0.37507	1.11	0.58432	D	0.999992	B	0.02656	0.0	B	0.06405	0.002	T	0.26643	-1.0097	10	0.19590	T	0.45	.	16.7954	0.85600	0.0:0.8609:0.1391:0.0	.	3796	Q14204	DYHC1_HUMAN	N	3796	ENSP00000348965:T3796N	ENSP00000348965:T3796N	T	+	2	0	DYNC1H1	101575271	1.000000	0.71417	0.924000	0.36721	0.976000	0.68499	4.843000	0.62838	1.504000	0.48704	0.655000	0.94253	ACC	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414574.1		+	ENST00000360184.4	Missense_Mutation	SNP	14 : 102505518 - 102505518 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	478	78
CPSF2	53981	broad.mit.edu	37	14	92620736	92620736	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92620736T>C	ENST00000298875.4	+	10	1460	c.1175T>C	c.(1174-1176)cTt>cCt	p.L392P		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	392					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		GGGAAAGAACTTGAAGAATAC	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(78;28 1788 18702 44111)							NA				0													59	59	59			NA	NA	14		NA											NA				92620736		2203	4300	6503	SO:0001583	missense			AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934	53981	53981			2325	protein-coding gene	gene with protein product		606028	cleavage and polyadenylation specific factor 2, 100kD subunit		NA	7969155, 11124543	Standard		NM_017437	NA	Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.1175T>C	14.37:g.92620736T>C	ENSP00000298875:p.Leu392Pro	NA	B3KME1|Q6NSJ1|Q9H3W7	37	CCDS9902.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.476771	0.84640	.	.	ENSG00000165934	ENST00000298875	T	0.57907	0.37	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.75824	0.3902	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79914	-0.1602	10	0.66056	D	0.02	.	16.0967	0.81129	0.0:0.0:0.0:1.0	.	392	Q9P2I0	CPSF2_HUMAN	P	392	ENSP00000298875:L392P	ENSP00000298875:L392P	L	+	2	0	CPSF2	91690489	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.189000	0.77747	2.263000	0.75096	0.379000	0.24179	CTT	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412123.1		+	ENST00000298875.4	Missense_Mutation	SNP	14 : 92620736 - 92620736 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	147	38
SLC20A1	6574	broad.mit.edu	37	2	113416903	113416903	+	Missense_Mutation	SNP	C	C	A	rs11552050		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113416903C>A	ENST00000272542.3	+	8	1710	c.1171C>A	c.(1171-1173)Cta>Ata	p.L391I	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	391					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						GTACAAAGAGCTACTCCATAA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	131	133			NA	NA	2		NA											NA				113416903		2203	4300	6503	SO:0001583	missense				CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136	6574	6574		Solute carriers	10946	protein-coding gene	gene with protein product	gibbon ape leukemia virus receptor 1	137570		GLVR1	NA	8041748	Standard	NM_005415	NM_005415	NA	Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.1171C>A	2.37:g.113416903C>A	ENSP00000272542:p.Leu391Ile	NA	Q08344|Q6DHX8|Q9UQ82	37	CCDS2099.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.64|19.64	3.864962|3.864962	0.71949|0.71949	.|.	.|.	ENSG00000144136|ENSG00000144136	ENST00000433924|ENST00000272542;ENST00000409095	.|D	.|0.92249	.|-3.0	5.33|5.33	4.26|4.26	0.50523|0.50523	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94092|0.94092	0.8106|0.8106	L|L	0.56124|0.56124	1.755|1.755	0.51767|0.51767	D|D	0.999936|0.999936	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.83275	.|0.996;0.996	D|D	0.93439|0.93439	0.6792|0.6792	5|10	.|0.51188	.|T	.|0.08	-44.6552|-44.6552	12.1642|12.1642	0.54120|0.54120	0.0:0.9016:0.0:0.0984|0.0:0.9016:0.0:0.0984	.|.	.|391;391	.|A7LNJ1;Q8WUM9	.|.;S20A1_HUMAN	D|I	174|391;203	.|ENSP00000272542:L391I	.|ENSP00000272542:L391I	A|L	+|+	2|1	0|2	SLC20A1|SLC20A1	113133374|113133374	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.905000|0.905000	0.53344|0.53344	2.720000|2.720000	0.47252|0.47252	2.517000|2.517000	0.84864|0.84864	0.655000|0.655000	0.94253|0.94253	GCT|CTA	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254086.2		+	ENST00000272542.3	Missense_Mutation	SNP	2 : 113416903 - 113416903 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	635	111
RABEP1	9135	broad.mit.edu	37	17	5268464	5268464	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5268464G>A	ENST00000546142.2	+	11	1903	c.1716G>A	c.(1714-1716)gaG>gaA	p.E572E	NUP88_ENST00000573169.1_Intron|RP11-420A6.2_ENST00000572792.1_RNA|RABEP1_ENST00000262477.6_Silent_p.E572E|RABEP1_ENST00000408982.2_Silent_p.E572E|RABEP1_ENST00000537505.1_Silent_p.E529E|RABEP1_ENST00000341923.6_Silent_p.E572E			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	572					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						ACCAGTTAGAGAAGACAATGA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	111	114			NA	NA	17		NA											NA				5268464		1870	4110	5980	SO:0001819	synonymous_variant			AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725	9135	9135			17677	protein-coding gene	gene with protein product		603616			NA	8521472	Standard	NM_004703	NM_001291582	NA	Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.1716G>A	17.37:g.5268464G>A		NA	B2RAG7|O95369|Q8IVX3	37	CCDS45592.1																																																																																			RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000439349.1		+	ENST00000546142.2	Silent	SNP	17 : 5268464 - 5268464 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	503	98
USMG5	84833	broad.mit.edu	37	10	105152192	105152192	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105152192G>A	ENST00000369825.1	-	3	505	c.23C>T	c.(22-24)gCg>gTg	p.A8V	USMG5_ENST00000369811.1_Missense_Mutation_p.A8V|USMG5_ENST00000337003.4_Missense_Mutation_p.A8V|USMG5_ENST00000309579.3_Missense_Mutation_p.A8V|USMG5_ENST00000369815.1_Missense_Mutation_p.A8V			Q96IX5	USMG5_HUMAN	up-regulated during skeletal muscle growth 5 homolog (mouse)	8						integral to membrane				breast(1)	1		Colorectal(252;0.142)		Epithelial(162;3.94e-09)|all cancers(201;2.76e-08)|BRCA - Breast invasive adenocarcinoma(275;0.197)		CTGGTATTGCGCATCACTTTC	0.279		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	36	35			NA	NA	10		NA											NA				105152192		2191	4290	6481	SO:0001583	missense			BC007087	CCDS7548.1	10q24.33	2011-04-13	2008-06-05		ENSG00000173915	ENSG00000173915	84833	84833			30889	protein-coding gene	gene with protein product		615204	upregulated during skeletal muscle growth 5, upregulated during skeletal muscle growth 5 homolog (mouse)		NA	12477932	Standard	NM_032747	NM_032747	NA	Approved	MGC14697, bA792D24.4, DAPIT	uc001kwx.2	Q96IX5	OTTHUMG00000018984	ENST00000369825.1:c.23C>T	10.37:g.105152192G>A	ENSP00000358840:p.Ala8Val	NA	B2R4N2|D3DR92	37	CCDS7548.1	.	.	.	.	.	.	.	.	.	.	G	6.496	0.459732	0.12342	.	.	ENSG00000173915	ENST00000369825;ENST00000369815;ENST00000309579;ENST00000337003;ENST00000369811	.	.	.	6.17	3.11	0.35812	.	0.553031	0.17366	N	0.176845	T	0.37293	0.0998	.	.	.	0.18873	N	0.999986	B	0.15473	0.013	B	0.06405	0.002	T	0.21861	-1.0233	8	0.35671	T	0.21	.	14.0578	0.64781	0.0:0.3137:0.5913:0.095	.	8	Q96IX5	USMG5_HUMAN	V	8	.	ENSP00000311245:A8V	A	-	2	0	USMG5	105142182	0.065000	0.20965	0.996000	0.52242	0.171000	0.22731	1.517000	0.35867	0.823000	0.34589	-0.152000	0.13540	GCG	USMG5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050142.1		-	ENST00000369825.1	Missense_Mutation	SNP	10 : 105152192 - 105152192 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	250	42
PPP2R2A	5520	broad.mit.edu	37	8	26151208	26151208	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:26151208T>C	ENST00000380737.3	+	2	363	c.34T>C	c.(34-36)Tgg>Cgg	p.W12R	PPP2R2A_ENST00000523473.1_3'UTR|PPP2R2A_ENST00000315985.7_Missense_Mutation_p.W22R	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha	NA										kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TGATATTCAGTGGTGTTTTTC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	156	158			NA	NA	8		NA											NA				26151208		2203	4300	6503	SO:0001583	missense			M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	5520	5520	3.1.3.16	Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits, WD repeat domain containing	9304	protein-coding gene	gene with protein product	PP2A subunit B isoform alpha	604941	protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform, protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform		NA	1849734	Standard	NM_002717	NM_001177591	NA	Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.34T>C	8.37:g.26151208T>C	ENSP00000370113:p.Trp12Arg	NA		37	CCDS34867.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.326202	0.41197	.	.	ENSG00000221914	ENST00000380737;ENST00000315985	T;T	0.42131	1.0;0.98	5.69	5.69	0.88448	.	0.000000	0.64402	U	0.000001	T	0.71426	0.3338	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.76575	0.988;0.98	T	0.78661	-0.2117	10	0.72032	D	0.01	-13.4676	14.9406	0.70992	0.0:0.0:0.0:1.0	.	22;12	B4E1T7;P63151	.;2ABA_HUMAN	R	12;22	ENSP00000370113:W12R;ENSP00000325074:W22R	ENSP00000325074:W22R	W	+	1	0	PPP2R2A	26207125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	2.162000	0.67917	0.460000	0.39030	TGG	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375954.2		+	ENST00000380737.3	Missense_Mutation	SNP	8 : 26151208 - 26151208 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	327	66
TLN1	7094	broad.mit.edu	37	9	35715097	35715097	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35715097C>T	ENST00000314888.9	-	21	3066	c.2713G>A	c.(2713-2715)Gcg>Acg	p.A905T	TLN1_ENST00000540444.1_Missense_Mutation_p.A905T	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	905					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCATTCTGCGCAGCTGCATTG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	79	77			NA	NA	9		NA											NA				35715097		2203	4300	6503	SO:0001583	missense			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076	7094	7094			11845	protein-coding gene	gene with protein product		186745		TLN	NA	7635475, 10610730	Standard	NM_006289	NM_006289	NA	Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.2713G>A	9.37:g.35715097C>T	ENSP00000316029:p.Ala905Thr	NA	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	37	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557532	0.65425	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.72282	-0.58;-0.64	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.65365	0.2684	L	0.37697	1.125	0.80722	D	1	B	0.31009	0.303	B	0.32393	0.145	T	0.61431	-0.7064	10	0.34782	T	0.22	-13.5951	19.7629	0.96329	0.0:1.0:0.0:0.0	.	905	Q9Y490	TLN1_HUMAN	T	905	ENSP00000316029:A905T;ENSP00000442981:A905T	ENSP00000316029:A905T	A	-	1	0	TLN1	35705097	1.000000	0.71417	0.876000	0.34364	0.431000	0.31685	7.783000	0.85696	2.666000	0.90696	0.561000	0.74099	GCG	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052353.2		-	ENST00000314888.9	Missense_Mutation	SNP	9 : 35715097 - 35715097 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	546	113
TLR8	51311	broad.mit.edu	37	X	12937820	12937820	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:12937820C>A	ENST00000311912.5	+	3	866	c.715C>A	c.(715-717)Cca>Aca	p.P239T	TLR8_ENST00000218032.6_Missense_Mutation_p.P221T			Q9NR97	TLR8_HUMAN	toll-like receptor 8	221					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ACCCAAACTGCCAAGCTCCCT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	69	67			NA	NA	X		NA											NA				12937820		2203	4298	6501	SO:0001583	missense			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916	51311	51311		CD molecules	15632	protein-coding gene	gene with protein product		300366			NA	11022119	Standard	NM_016610	NM_138636	NA	Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000311912.5:c.715C>A	X.37:g.12937820C>A	ENSP00000312082:p.Pro239Thr	NA	B3Y654|Q495P4|Q6UXL6|Q9NYG9	37		.	.	.	.	.	.	.	.	.	.	C	12.79	2.044863	0.36085	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.00976	5.48;5.48	4.93	4.93	0.64822	.	0.000000	0.40469	N	0.001086	T	0.05868	0.0153	M	0.84511	2.7	0.53688	D	0.999975	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01238	-1.1409	10	0.87932	D	0	.	11.3276	0.49458	0.0:0.901:0.0:0.099	.	221;239	Q9NR97;D1CS70	TLR8_HUMAN;.	T	221;239	ENSP00000218032:P221T;ENSP00000312082:P239T	ENSP00000218032:P221T	P	+	1	0	TLR8	12847741	1.000000	0.71417	0.503000	0.27626	0.029000	0.11900	3.064000	0.49986	2.048000	0.60808	0.523000	0.50628	CCA	TLR8-001	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000055783.1		+	ENST00000311912.5	Missense_Mutation	SNP	X : 12937820 - 12937820 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	467	109
TGIF2LX	90316	broad.mit.edu	37	X	89177650	89177650	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:89177650C>T	ENST00000561129.2	+	1	696	c.566C>T	c.(565-567)cCg>cTg	p.P189L	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.P189L			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	189						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						ATAGCCCAGCCGAAGAAAAAG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	75	74			NA	NA	X		NA											NA				89177650		2203	4300	6503	SO:0001583	missense			AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779	90316	90316		Homeoboxes / TALE class	18570	protein-coding gene	gene with protein product		300411	TGFB-induced factor 2-like, X-linked		NA		Standard	NM_138960	NM_138960	NA	Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.566C>T	X.37:g.89177650C>T	ENSP00000453704:p.Pro189Leu	NA	Q5JRM9|Q8TD48	37	CCDS14459.1	.	.	.	.	.	.	.	.	.	.	C	4.791	0.147126	0.09134	.	.	ENSG00000153779	ENST00000283891	T	0.61392	0.11	2.95	0.0758	0.14400	.	.	.	.	.	T	0.46054	0.1373	M	0.76574	2.34	0.09310	N	1	B	0.33238	0.403	B	0.18871	0.023	T	0.36792	-0.9733	8	.	.	.	-5.0317	2.3044	0.04170	0.244:0.457:0.0:0.2989	.	189	Q8IUE1	TF2LX_HUMAN	L	189	ENSP00000355119:P189L	.	P	+	2	0	TGIF2LX	89064306	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.009000	0.12765	-0.101000	0.12219	0.506000	0.49869	CCG	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417911.2		+	ENST00000561129.2	Missense_Mutation	SNP	X : 89177650 - 89177650 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	218	56
SCN10A	6336	broad.mit.edu	37	3	38768102	38768102	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38768102C>A	ENST00000449082.2	-	16	3081	c.3082G>T	c.(3082-3084)Gga>Tga	p.G1028*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1028					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTTACCTGTCCTTTGGGGATC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	62	66			NA	NA	3		NA											NA				38768102		2203	4300	6503	SO:0001587	stop_gained			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313	6336	6336		Sodium channels, Voltage-gated ion channels / Sodium channels	10582	protein-coding gene	gene with protein product		604427	sodium channel, voltage-gated, type X, alpha polypeptide		NA	9839820, 10198179, 16382098	Standard	NM_006514	NM_006514	NA	Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3082G>T	3.37:g.38768102C>A	ENSP00000390600:p.Gly1028*	NA	A6NDQ1	37	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	38	6.820651	0.97861	.	.	ENSG00000185313	ENST00000449082	.	.	.	3.84	0.00718	0.14070	.	5.998850	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	7.2493	0.26140	0.0:0.4287:0.0:0.5713	.	.	.	.	X	1028	.	ENSP00000390600:G1028X	G	-	1	0	SCN10A	38743106	0.000000	0.05858	0.000000	0.03702	0.331000	0.28603	0.116000	0.15561	-0.014000	0.14175	0.655000	0.94253	GGA	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109745.3		-	ENST00000449082.2	Nonsense_Mutation	SNP	3 : 38768102 - 38768102 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	302	56
ZNF398	57541	broad.mit.edu	37	7	148851044	148851044	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148851044A>C	ENST00000475153.1	+	2	299	c.32A>C	c.(31-33)gAa>gCa	p.E11A	ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.E16A|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000420008.2_5'UTR			Q8TD17	ZN398_HUMAN	zinc finger protein 398	11					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CAGACATCTGAATGGGACTCC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	76	78			NA	NA	7		NA											NA				148851044		2203	4300	6503	SO:0001583	missense			AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024	NA	57541		Zinc fingers, C2H2-type, -	18373	protein-coding gene	gene with protein product					NA	11779858	Standard		NM_170686	NA	Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.32A>C	7.37:g.148851044A>C	ENSP00000420418:p.Glu11Ala	NA	A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	37	CCDS5894.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.953521	0.73902	.	.	ENSG00000197024	ENST00000475153;ENST00000540950	T;T	0.09911	3.13;2.93	5.1	5.1	0.69264	.	0.000000	0.48767	D	0.000172	T	0.18593	0.0446	N	0.24115	0.695	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.70935	0.971;0.956	T	0.01993	-1.1233	10	0.87932	D	0	-15.7009	11.2938	0.49267	1.0:0.0:0.0:0.0	.	16;11	B4DXA9;Q8TD17	.;ZN398_HUMAN	A	11;16	ENSP00000420418:E11A;ENSP00000439340:E16A	ENSP00000420418:E11A	E	+	2	0	ZNF398	148481977	0.991000	0.36638	1.000000	0.80357	0.924000	0.55760	2.545000	0.45769	1.916000	0.55485	0.460000	0.39030	GAA	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352722.2		+	ENST00000475153.1	Missense_Mutation	SNP	7 : 148851044 - 148851044 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	519	93
EPAS1	2034	broad.mit.edu	37	2	46607801	46607801	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46607801G>T	ENST00000263734.3	+	12	2500	c.1990G>T	c.(1990-1992)Gca>Tca	p.A664S		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	664					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GTTCTTGGGAGCAGCGCCGTT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	85	81			NA	NA	2		NA											NA				46607801		2197	4287	6484	SO:0001583	missense			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016	2034	2034		Basic helix-loop-helix proteins	3374	protein-coding gene	gene with protein product	HIF-1 alpha-like factor	603349			NA	9000051, 9079689, 18378852	Standard	NM_001430	NM_001430	NA	Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1990G>T	2.37:g.46607801G>T	ENSP00000263734:p.Ala664Ser	NA	Q86VA2|Q99630	37	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	G	2.045	-0.419044	0.04766	.	.	ENSG00000116016	ENST00000263734	T	0.44881	0.91	4.69	-2.69	0.06022	.	0.753997	0.11622	N	0.545664	T	0.14960	0.0361	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32214	-0.9915	10	0.02654	T	1	.	5.9118	0.19033	0.478:0.2604:0.2616:0.0	.	664	Q99814	EPAS1_HUMAN	S	664	ENSP00000263734:A664S	ENSP00000263734:A664S	A	+	1	0	EPAS1	46461305	0.000000	0.05858	0.003000	0.11579	0.046000	0.14306	-0.243000	0.08915	-0.482000	0.06782	0.585000	0.79938	GCA	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250752.2		+	ENST00000263734.3	Missense_Mutation	SNP	2 : 46607801 - 46607801 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	945	141
EXOC3	11336	broad.mit.edu	37	5	446344	446344	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:446344C>T	ENST00000510441.1	+	0	196				EXOC3_ENST00000315013.5_Silent_p.A8A|EXOC3_ENST00000512944.1_Silent_p.A8A			O60645	EXOC3_HUMAN	exocyst complex component 3	NA					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			ACCGGGAGGCCGTTGCGACAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	85	84			NA	NA	5		NA											NA				446344		2011	4172	6183	SO:0001624	3_prime_UTR_variant			BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104	11336	11336			30378	protein-coding gene	gene with protein product		608186	SEC6-like 1 (S. cerevisiae)	SEC6L1	NA	8619474	Standard	NM_007277	XM_005248238	NA	Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000510441.1:c.*193C>T	5.37:g.446344C>T		NA	Q8TEN6|Q8WUW0|Q96DI4	37																																																																																				EXOC3-005	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000367886.1		+	ENST00000510441.1	3'UTR	SNP	5 : 446344 - 446344 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	373	50
FITM2	128486	broad.mit.edu	37	20	42935595	42935595	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42935595T>C	ENST00000396825.3	-	2	479	c.459A>G	c.(457-459)tcA>tcG	p.S153S		NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	153					cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process	integral to endoplasmic reticulum membrane				endometrium(2)|lung(2)|skin(2)	6						AGGAGTGACCTGAGATGTCAA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	87	98			NA	NA	20		NA											NA				42935595		2203	4300	6503	SO:0001819	synonymous_variant			BC029662	CCDS33473.1	20q13.12	2009-04-29	2009-04-29	2009-04-29	ENSG00000197296	ENSG00000197296	128486	128486			16135	protein-coding gene	gene with protein product	fat inducing transcript 2	612029	chromosome 20 open reading frame 142	C20orf142	NA	18160536	Standard	XM_371399	NM_001080472	NA	Approved	dJ881L22.2, FIT2	uc002xlr.1	Q8N6M3	OTTHUMG00000032522	ENST00000396825.3:c.459A>G	20.37:g.42935595T>C		NA	A1L492|B9EGQ4|Q5TE59|Q9H3Y1	37	CCDS33473.1																																																																																			FITM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079342.2		-	ENST00000396825.3	Silent	SNP	20 : 42935595 - 42935595 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	279	9
CCR10	2826	broad.mit.edu	37	17	40831869	40831869	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40831869C>A	ENST00000591765.1	-	2	1510	c.125G>T	c.(124-126)aGc>aTc	p.S42I	CCR10_ENST00000332438.4_Missense_Mutation_p.S264I			P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	264						integral to plasma membrane				lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CAGGGCGAGGCTGTAGGGCAG	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													9	10	10			NA	NA	17		NA											NA				40831869		2149	4219	6368	SO:0001583	missense			AF215981	CCDS11435.1	17q21.1-q21.3	2012-08-08	2004-11-12	2004-11-12	ENSG00000184451	ENSG00000184451	2826	2826		GPCR / Class A : Chemokine receptors : C-C motif	4474	protein-coding gene	gene with protein product		600240	G protein-coupled receptor 2	GPR2	NA	7851889	Standard	NM_016602	NM_016602	NA	Approved		uc002iax.4	P46092	OTTHUMG00000132301	ENST00000591765.1:c.125G>T	17.37:g.40831869C>A	ENSP00000468135:p.Ser42Ile	NA	Q4V749|Q6T7X2|Q9NZG2	37		.	.	.	.	.	.	.	.	.	.	C	19.64	3.865068	0.71949	.	.	ENSG00000184451	ENST00000332438	T	0.37235	1.21	4.24	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000203	T	0.41305	0.1153	L	0.46157	1.445	0.31084	N	0.711548	P	0.47191	0.891	P	0.51266	0.664	T	0.50466	-0.8825	10	0.87932	D	0	.	10.7503	0.46205	0.0:0.6747:0.3253:0.0	.	264	P46092	CCR10_HUMAN	I	264	ENSP00000332504:S264I	ENSP00000332504:S264I	S	-	2	0	CCR10	38085395	0.637000	0.27216	1.000000	0.80357	0.986000	0.74619	0.690000	0.25451	2.192000	0.70111	0.462000	0.41574	AGC	CCR10-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000452339.1		-	ENST00000591765.1	Missense_Mutation	SNP	17 : 40831869 - 40831869 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	130	23
PPEF2	5470	broad.mit.edu	37	4	76794284	76794284	+	Missense_Mutation	SNP	C	C	T	rs143649959		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76794284C>T	ENST00000286719.7	-	12	1858	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	501	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACCCACCTTGCGGTTGTGACA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(105;1359 1603 15961 44567 47947)							NA				0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	131	120	123		1502	4.8	1	4	dbSNP_134	123	0,8600		0,0,4300	no	missense	PPEF2	NM_006239.2	29	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging	501/754	76794284	1,13005	2203	4300	6503	SO:0001583	missense			AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194	5470	5470		Serine/threonine phosphatases / Protein phosphatase, catalytic subunits, EF-hand domain containing	9244	protein-coding gene	gene with protein product	protein phosphatase 7, catalytic subunit, beta isozyme	602256			NA	9326663, 12051765	Standard	NM_006239	NM_006239	NA	Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1502G>A	4.37:g.76794284C>T	ENSP00000286719:p.Arg501His	NA	O14831	37	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.985700	0.53934	2.27E-4	0.0	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.05786	3.39	4.85	4.85	0.62838	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);	0.110801	0.64402	D	0.000006	T	0.21022	0.0506	M	0.68593	2.085	0.46222	D	0.998931	P;D	0.89917	0.954;1.0	P;D	0.64506	0.49;0.926	T	0.00178	-1.1951	10	0.44086	T	0.13	-11.032	15.4928	0.75624	0.0:1.0:0.0:0.0	.	501;501	O14830-2;O14830	.;PPE2_HUMAN	H	501	ENSP00000286719:R501H	ENSP00000286719:R501H	R	-	2	0	PPEF2	77013308	1.000000	0.71417	0.999000	0.59377	0.010000	0.07245	7.061000	0.76699	2.518000	0.84900	0.563000	0.77884	CGC	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362929.1		-	ENST00000286719.7	Missense_Mutation	SNP	4 : 76794284 - 76794284 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	321	70
KMT2C	58508	broad.mit.edu	37	7	151879109	151879109	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151879109G>T	ENST00000262189.6	-	36	6054	c.5836C>A	c.(5836-5838)Cca>Aca	p.P1946T	KMT2C_ENST00000355193.2_Missense_Mutation_p.P1946T	NM_170606.2	NP_733751.2			lysine (K)-specific methyltransferase 2C	NA											NA						ACAGGGGATGGCCTATTTGCT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	129	127			NA	NA	7		NA											NA				151879109		2203	4300	6503	SO:0001583	missense			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609	58508	58508		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	13726	protein-coding gene	gene with protein product		606833	myeloid/lymphoid or mixed-lineage leukemia 3	MLL3	NA	10819331	Standard		XM_005250026	NA	Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5836C>A	7.37:g.151879109G>T	ENSP00000262189:p.Pro1946Thr	NA		37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.556898	0.27827	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.60040	0.22;0.22	5.09	5.09	0.68999	.	0.000000	0.44688	D	0.000428	T	0.69314	0.3097	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	0.993;1.0	P;D	0.91635	0.796;0.999	T	0.72693	-0.4216	10	0.72032	D	0.01	.	18.5052	0.90894	0.0:0.0:1.0:0.0	.	1946;1007	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	T	1946	ENSP00000262189:P1946T;ENSP00000347325:P1946T	ENSP00000262189:P1946T	P	-	1	0	MLL3	151510042	1.000000	0.71417	0.995000	0.50966	0.742000	0.42306	7.816000	0.86201	2.366000	0.80165	0.563000	0.77884	CCA	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318887.3		-	ENST00000262189.6	Missense_Mutation	SNP	7 : 151879109 - 151879109 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	804	143
SYMPK	8189	broad.mit.edu	37	19	46345746	46345746	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46345746G>A	ENST00000245934.7	-	9	1093	c.849C>T	c.(847-849)gcC>gcT	p.A283A		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	283					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GGGGCAGGTTGGCTGTGAGGA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	56	56			NA	NA	19		NA											NA				46345746		2203	4300	6503	SO:0001630	splice_region_variant			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755	8189	8189			22935	protein-coding gene	gene with protein product		602388			NA	9330635	Standard	NM_004819	NM_004819	NA	Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.848-1C>T	19.37:g.46345746G>A		NA	O00521|O00689|O00733|Q59GT5|Q8N2U5	37	CCDS12676.2																																																																																			SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316581.1	Silent	-	ENST00000245934.7	Splice_Site	SNP	19 : 46345746 - 46345746 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	481	80
CCDC37	348807	broad.mit.edu	37	3	126154401	126154401	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126154401G>T	ENST00000393425.1	+	16	1730		c.e16-1		CCDC37_ENST00000352312.1_Splice_Site|CCDC37_ENST00000505024.1_Splice_Site|CCDC37_ENST00000506204.1_Splice_Site			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	NA										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		TTGCCACCCAGACTTCGAGAA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	45	44			NA	NA	3		NA											NA				126154401		2203	4300	6503	SO:0001630	splice_region_variant			AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885	348807	348807			26842	protein-coding gene	gene with protein product					NA	23569216	Standard	NM_182628	NM_182628	NA	Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000393425.1:c.1632-1G>T	3.37:g.126154401G>T		NA	D3DNA8|Q494V1|Q494V4|Q8N838	37		.	.	.	.	.	.	.	.	.	.	G	12.31	1.900877	0.33535	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	.	.	.	4.4	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8516	0.70300	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC37	127637091	1.000000	0.71417	0.930000	0.37139	0.256000	0.26092	6.572000	0.74005	2.162000	0.67917	0.491000	0.48974	.	CCDC37-201	KNOWN	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding		Intron	+	ENST00000393425.1	Splice_Site	SNP	3 : 126154401 - 126154401 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	197	36
SYTL3	94120	broad.mit.edu	37	6	159178308	159178308	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159178308G>A	ENST00000297239.9	+	13	1397	c.1203G>A	c.(1201-1203)acG>acA	p.T401T	SYTL3_ENST00000360448.3_Silent_p.T333T|SYTL3_ENST00000367081.3_Silent_p.T127T			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	401	C2 1.				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		ATCTGGGCACGCTGGCCCGGA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								T	,,,	0,4406		0,0,2203	53	47	49		999,1203,1203,999	-7	0	6		49	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SYTL3	NM_001009991.3,NM_001242384.1,NM_001242394.1,NM_001242395.1	,,,	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	,,,	333/543,401/611,401/611,333/543	159178308	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674	94120	94120			15587	protein-coding gene	gene with protein product					NA	11773082	Standard		NM_001242384	NA	Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.1203G>A	6.37:g.159178308G>A		NA	Q496J4|Q496J6|Q5U3B9	37	CCDS56458.1																																																																																			SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042876.1		+	ENST00000297239.9	Silent	SNP	6 : 159178308 - 159178308 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	233	45
NLRP12	91662	broad.mit.edu	37	19	54313950	54313950	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54313950C>T	ENST00000324134.6	-	3	1131	c.963G>A	c.(961-963)gaG>gaA	p.E321E	NLRP12_ENST00000391775.3_Silent_p.E321E|NLRP12_ENST00000391772.1_Silent_p.E321E|NLRP12_ENST00000351894.4_Silent_p.E321E|NLRP12_ENST00000345770.5_Silent_p.E321E|NLRP12_ENST00000391773.1_Silent_p.E321E|NLRP12_ENST00000535162.1_Silent_p.E321E|NLRP12_ENST00000354278.3_Silent_p.E321E	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	321	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TAAGAAGCAGCTCCGTGGGCC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	50	49			NA	NA	19		NA											NA				54313950		2203	4300	6503	SO:0001819	synonymous_variant			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405	91662	91662		Nucleotide-binding domain and leucine rich repeat containing	22938	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12	609648	NACHT, leucine rich repeat and PYD containing 12	NALP12	NA	12563287, 12019269	Standard	NM_144687	NM_001277129	NA	Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.963G>A	19.37:g.54313950C>T		NA	Q8NEU4|Q9BY26	37	CCDS12864.1																																																																																			NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000134340.1		-	ENST00000324134.6	Silent	SNP	19 : 54313950 - 54313950 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	420	97
LMAN1	3998	broad.mit.edu	37	18	57014746	57014746	+	Splice_Site	SNP	G	G	A	rs41476148	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:57014746G>A	ENST00000251047.5	-	7	1538	c.821C>T	c.(820-822)cCg>cTg	p.P274L	LMAN1_ENST00000587940.1_5'UTR	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	274					blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TAAAATTACCGGCTCTTTTCC	0.343		NA											G	2	9e-04	0.0041	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	9e-04	1	EXOME	NA	NA	2e-04	SNP								NA				0								G	LEU/PRO	31,4375	36.0+/-67.5	0,31,2172	32	37	35		821	1.9	0.4	18	dbSNP_127	35	1,8599	1.2+/-3.3	0,1,4299	yes	missense-near-splice	LMAN1	NM_005570.3	98	0,32,6471	AA,AG,GG	NA	0.0116,0.7036,0.246	benign	274/511	57014746	32,12974	2203	4300	6503	SO:0001630	splice_region_variant			X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695	3998	3998			6631	protein-coding gene	gene with protein product	endoplasmic reticulum-golgi intermediate compartment protein 53	601567	coagulation factor V-factor VIII combined deficiency	F5F8D	NA	9546392, 8854877	Standard	NM_005570	NM_005570	NA	Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.822+1C>T	18.37:g.57014746G>A		NA	Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	37	CCDS11974.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	7.825	0.718537	0.15372	0.007036	1.16E-4	ENSG00000074695	ENST00000251047	T	0.57595	0.39	5.7	1.91	0.25777	.	0.508561	0.22770	N	0.055858	T	0.19046	0.0457	N	0.04508	-0.205	0.41827	D	0.990053	B	0.06786	0.001	B	0.01281	0.0	T	0.03403	-1.1040	10	0.21540	T	0.41	-3.5685	9.2241	0.37395	0.3669:0.0:0.6331:0.0	rs41476148	274	P49257	LMAN1_HUMAN	L	274	ENSP00000251047:P274L	ENSP00000251047:P274L	P	-	2	0	LMAN1	55165726	0.997000	0.39634	0.421000	0.26609	0.428000	0.31595	0.657000	0.24963	0.354000	0.24105	-0.142000	0.14014	CCG	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256129.2	Missense_Mutation	-	ENST00000251047.5	Splice_Site	SNP	18 : 57014746 - 57014746 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	86	17
ZNF528	84436	broad.mit.edu	37	19	52919388	52919388	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52919388G>A	ENST00000391788.2	+	0	1941				ZNF528_ENST00000360465.3_Missense_Mutation_p.R428Q			Q3MIS6	ZN528_HUMAN	zinc finger protein 528	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		ATACGACATCGAAAAACTCAT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	76	76			NA	NA	19		NA											NA				52919388		2203	4300	6503	SO:0001624	3_prime_UTR_variant			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555	84436	84436		Zinc fingers, C2H2-type, -	29384	protein-coding gene	gene with protein product		615580			NA	11347906	Standard	NM_032423	NM_032423	NA	Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000391788.2:c.*1046G>A	19.37:g.52919388G>A		NA	B3KPN4|Q86T88|Q96JK0	37		.	.	.	.	.	.	.	.	.	.	G	0.018	-1.484420	0.01027	.	.	ENSG00000167555	ENST00000360465	T	0.36878	1.23	1.97	-3.0	0.05480	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11196	0.0273	N	0.16066	0.365	0.09310	N	1	B	0.32573	0.376	B	0.16289	0.015	T	0.27673	-1.0067	9	0.02654	T	1	.	2.9264	0.05786	0.557:0.0:0.2562:0.1869	.	428	Q3MIS6	ZN528_HUMAN	Q	428	ENSP00000353652:R428Q	ENSP00000353652:R428Q	R	+	2	0	ZNF528	57611200	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.143000	0.10296	-1.027000	0.03325	-1.087000	0.02190	CGA	ZNF528-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000344337.3		+	ENST00000391788.2	3'UTR	SNP	19 : 52919388 - 52919388 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	325	61
MMP26	56547	broad.mit.edu	37	11	5009471	5009471	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5009471C>A	ENST00000380390.1	+	2	246	c.30C>A	c.(28-30)atC>atA	p.I10I	MMP26_ENST00000300762.1_Silent_p.I10I|MMP26_ENST00000477339.1_Intron			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	10					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		GAGTTACTATCTTCTTGCCCT	0.488		NA									OREG0003716	type=REGULATORY REGION|Gene=MMP26|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													307	242	264			NA	NA	11		NA											NA				5009471		2201	4298	6499	SO:0001819	synonymous_variant			AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	56547	56547	3.4.24.1		14249	protein-coding gene	gene with protein product	matrilysin 2	605470	matrix metalloproteinase 26		NA	10801841, 10824119	Standard	NM_021801	NM_021801	NA	Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.30C>A	11.37:g.5009471C>A		623	Q3MJ78|Q9GZS2|Q9NR87	37	CCDS7752.1																																																																																			MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000142058.3		+	ENST00000380390.1	Silent	SNP	11 : 5009471 - 5009471 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	686	123
ZNF470	388566	broad.mit.edu	37	19	57089583	57089583	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57089583C>A	ENST00000330619.8	+	6	2472	c.1786C>A	c.(1786-1788)Ctt>Att	p.L596I	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.L596I	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	596					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		GTATGAATGTCTTGAATGTGG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	91	92			NA	NA	19		NA											NA				57089583		2203	4300	6503	SO:0001583	missense			AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016	388566	388566		Zinc fingers, C2H2-type, -	22220	protein-coding gene	gene with protein product					NA	15302581	Standard	NM_001001668	NM_001001668	NA	Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1786C>A	19.37:g.57089583C>A	ENSP00000333223:p.Leu596Ile	NA	A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	37	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799205	0.31869	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.07688	3.17;3.17	4.38	0.575	0.17374	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07324	0.0185	L	0.38838	1.175	0.09310	N	1	B	0.19583	0.037	B	0.18871	0.023	T	0.32561	-0.9902	9	0.54805	T	0.06	.	8.1605	0.31196	0.1625:0.5364:0.3011:0.0	.	596	Q6ECI4	ZN470_HUMAN	I	596	ENSP00000375590:L596I;ENSP00000333223:L596I	ENSP00000333223:L596I	L	+	1	0	ZNF470	61781395	0.000000	0.05858	0.655000	0.29622	0.996000	0.88848	-1.176000	0.03099	0.434000	0.26340	0.655000	0.94253	CTT	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459707.2		+	ENST00000330619.8	Missense_Mutation	SNP	19 : 57089583 - 57089583 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	394	14
TTC21B	79809	broad.mit.edu	37	2	166740357	166740357	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166740357C>A	ENST00000243344.7	-	26	3768	c.3631G>T	c.(3631-3633)Gca>Tca	p.A1211S	TTC21B_ENST00000536175.1_Missense_Mutation_p.A149S	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1211						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TCATATTTTGCTGATTGAATG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	127	127			NA	NA	2		NA											NA				166740357		2203	4300	6503	SO:0001583	missense			AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607	79809	79809		Tetratricopeptide (TTC) repeat domain containing, Intraflagellar transport homologs	25660	protein-coding gene	gene with protein product		612014			NA	12056414, 21258341	Standard	NM_024753	NM_024753	NA	Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.3631G>T	2.37:g.166740357C>A	ENSP00000243344:p.Ala1211Ser	NA	A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	37	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.668998	0.47677	.	.	ENSG00000123607	ENST00000536175;ENST00000243344	T;T	0.36878	1.23;1.23	5.56	5.56	0.83823	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.157596	0.56097	D	0.000038	T	0.19287	0.0463	N	0.03999	-0.3	0.33236	D	0.556598	B	0.16166	0.016	B	0.14023	0.01	T	0.15636	-1.0430	10	0.22109	T	0.4	-9.5148	15.3142	0.74059	0.2025:0.7975:0.0:0.0	.	1211	Q7Z4L5	TT21B_HUMAN	S	149;1211	ENSP00000438692:A149S;ENSP00000243344:A1211S	ENSP00000243344:A1211S	A	-	1	0	TTC21B	166448603	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.958000	0.56737	2.774000	0.95407	0.585000	0.79938	GCA	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333770.1		-	ENST00000243344.7	Missense_Mutation	SNP	2 : 166740357 - 166740357 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	78
SNCAIP	9627	broad.mit.edu	37	5	121786740	121786740	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121786740T>G	ENST00000261367.7	+	12	3767	c.2339T>G	c.(2338-2340)tTt>tGt	p.F780C	SNCAIP_ENST00000542191.1_Missense_Mutation_p.F291C|SNCAIP_ENST00000261368.8_Missense_Mutation_p.F733C|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379538.3_Missense_Mutation_p.F367C|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.F673C|SNCAIP_ENST00000414317.2_Missense_Mutation_p.F335C|SNCAIP_ENST00000379533.2_Missense_Mutation_p.F780C|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	733					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GGACGCAGGTTTCCTTTCAGC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	93	92			NA	NA	5		NA											NA				121786740		2203	4300	6503	SO:0001583	missense			AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692	9627	9627		Ankyrin repeat domain containing	11139	protein-coding gene	gene with protein product	synphilin	603779			NA	10319874	Standard		NM_001242935	NA	Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261367.7:c.2339T>G	5.37:g.121786740T>G	ENSP00000261367:p.Phe780Cys	NA	D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.74|13.74	2.327484|2.327484	0.41197|0.41197	.|.	.|.	ENSG00000064692|ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317|ENST00000447854	T;T;T;T;T;T;T;T|.	0.15603|.	4.27;4.81;2.47;2.41;4.8;4.74;2.41;4.48|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.052577|0.052577	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.76751|0.76751	0.4031|0.4031	M|M	0.75777|0.75777	2.31|2.31	0.44587|0.44587	D|D	0.99755|0.99755	D;D;B;D;D;D;D;D|.	0.89917|.	1.0;1.0;0.056;1.0;1.0;1.0;0.999;0.999|.	D;D;B;D;D;D;D;D|.	0.87578|.	0.998;0.998;0.117;0.964;0.998;0.964;0.994;0.921|.	T|T	0.79147|0.79147	-0.1923|-0.1923	10|7	0.87932|0.72032	D|D	0|0.01	-23.2289|-23.2289	16.6093|16.6093	0.84858|0.84858	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	673;361;335;673;367;367;780;733|.	D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5|.	.;.;.;.;.;.;.;SNCAP_HUMAN|.	C|V	291;673;733;780;673;367;780;335|356	ENSP00000441681:F291C;ENSP00000422106:F673C;ENSP00000261368:F733C;ENSP00000368848:F780C;ENSP00000368851:F673C;ENSP00000368854:F367C;ENSP00000261367:F780C;ENSP00000394392:F335C|.	ENSP00000261367:F780C|ENSP00000416985:F356V	F|F	+|+	2|1	0|0	SNCAIP|SNCAIP	121814639|121814639	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.291000|0.291000	0.27294|0.27294	4.731000|4.731000	0.62022|0.62022	2.324000|2.324000	0.78689|0.78689	0.533000|0.533000	0.62120|0.62120	TTT|TTC	SNCAIP-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000250889.2		+	ENST00000261367.7	Missense_Mutation	SNP	5 : 121786740 - 121786740 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	57
SPATA17	128153	broad.mit.edu	37	1	218036156	218036156	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:218036156A>C	ENST00000366933.4	+	10	1101	c.1046A>C	c.(1045-1047)aAg>aCg	p.K349T	SPATA17_ENST00000471021.1_3'UTR	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	349						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		CTCTTCTCAAAGTATGGAAAA	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	127	122			NA	NA	1		NA											NA				218036156		2203	4294	6497	SO:0001583	missense			AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814	128153	128153			25184	protein-coding gene	gene with protein product	IQ motif containing H	611032			NA	16395525	Standard	NM_138796	NM_138796	NA	Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.1046A>C	1.37:g.218036156A>C	ENSP00000355900:p.Lys349Thr	NA		37	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	A	14.94	2.683936	0.47991	.	.	ENSG00000162814	ENST00000366933	T	0.53423	0.62	5.38	3.08	0.35506	.	0.325508	0.26282	N	0.025278	T	0.49729	0.1574	M	0.74881	2.28	0.36585	D	0.873784	D	0.53619	0.961	P	0.46629	0.522	T	0.60880	-0.7175	10	0.72032	D	0.01	-4.4574	7.5057	0.27542	0.8309:0.0:0.1691:0.0	.	349	Q96L03	SPT17_HUMAN	T	349	ENSP00000355900:K349T	ENSP00000355900:K349T	K	+	2	0	SPATA17	216102779	0.989000	0.36119	0.575000	0.28536	0.529000	0.34654	2.795000	0.47861	0.868000	0.35678	0.477000	0.44152	AAG	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092433.2		+	ENST00000366933.4	Missense_Mutation	SNP	1 : 218036156 - 218036156 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	631	37
AP3B1	8546	broad.mit.edu	37	5	77473166	77473166	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:77473166T>G	ENST00000519295.1	-	9	1161	c.890A>C	c.(889-891)aAt>aCt	p.N297T	AP3B1_ENST00000255194.6_Missense_Mutation_p.N346T	NM_003664.3	NP_003655.3	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	346					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GACCTACCTATTGCTACGAAG	0.323		NA							Hermansky-Pudlak syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	93	94			NA	NA	5		NA											NA				77473166		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842	8546	8546			566	protein-coding gene	gene with protein product		603401			NA	9182526, 9151686	Standard		NM_003664	NA	Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000519295.1:c.890A>C	5.37:g.77473166T>G	ENSP00000430597:p.Asn297Thr	NA	O00580|Q7Z393|Q9HD66	37		.	.	.	.	.	.	.	.	.	.	T	17.96	3.516823	0.64634	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	T;T	0.25414	1.8;1.8	5.45	3.06	0.35304	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.185075	0.56097	D	0.000025	T	0.25606	0.0623	L	0.29908	0.895	0.40808	D	0.983395	P	0.38223	0.623	P	0.46452	0.517	T	0.04737	-1.0930	10	0.66056	D	0.02	.	9.6986	0.40171	0.0:0.1412:0.0:0.8588	.	346	O00203	AP3B1_HUMAN	T	346;297;346;250	ENSP00000255194:N346T;ENSP00000430597:N297T	ENSP00000255194:N346T	N	-	2	0	AP3B1	77508922	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.981000	0.56902	0.376000	0.24707	0.402000	0.26972	AAT	AP3B1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000369905.1		-	ENST00000519295.1	Missense_Mutation	SNP	5 : 77473166 - 77473166 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	312	9
RNLS	55328	broad.mit.edu	37	10	90122337	90122337	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90122337G>T	ENST00000371947.3	-	5	2011	c.672C>A	c.(670-672)gtC>gtA	p.V224V	RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000331772.4_Silent_p.V224V|RNLS_ENST00000437752.1_Silent_p.V141V	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	224						extracellular region	oxidoreductase activity			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						TATCAATGGAGACGAAGCGTA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	153	156			NA	NA	10		NA											NA				90122337		2203	4300	6503	SO:0001819	synonymous_variant			BC005364	CCDS7388.1, CCDS31239.1	10q23.31	2009-04-22	2009-04-22	2009-04-22	ENSG00000184719	ENSG00000184719	55328	55328			25641	protein-coding gene	gene with protein product		609360	chromosome 10 open reading frame 59	C10orf59	NA	15841207, 17565281	Standard	NM_018363	NM_001031709	NA	Approved	FLJ11218, renalase	uc001kfe.3	Q5VYX0	OTTHUMG00000018692	ENST00000371947.3:c.672C>A	10.37:g.90122337G>T		NA	Q9BS33|Q9NUP8	37	CCDS7388.1																																																																																			RNLS-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049249.1		-	ENST00000371947.3	Silent	SNP	10 : 90122337 - 90122337 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	451	78
JMY	133746	broad.mit.edu	37	5	78611996	78611996	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78611996G>T	ENST00000396137.4	+	10	3295	c.2833G>T	c.(2833-2835)Gaa>Taa	p.E945*	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	945					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		TGTTTTGAGAGAATCCTTCAC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	83	85			NA	NA	5		NA											NA				78611996		1872	4109	5981	SO:0001587	stop_gained			AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409	133746	133746			28916	protein-coding gene	gene with protein product		604279			NA	10518217	Standard	NM_152405	NM_152405	NA	Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2833G>T	5.37:g.78611996G>T	ENSP00000379441:p.Glu945*	NA	A1L4P5|B5MDS2|B5MDT0	37	CCDS4047.3	.	.	.	.	.	.	.	.	.	.	G	45	11.392913	0.99555	.	.	ENSG00000152409	ENST00000282259;ENST00000396137	.	.	.	5.65	5.65	0.86999	.	0.393126	0.29631	N	0.011607	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	19.7184	0.96132	0.0:0.0:1.0:0.0	.	.	.	.	X	934;945	.	ENSP00000282259:E934X	E	+	1	0	JMY	78647752	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.921000	0.63397	2.672000	0.90937	0.643000	0.83706	GAA	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254070.4		+	ENST00000396137.4	Nonsense_Mutation	SNP	5 : 78611996 - 78611996 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	56
ZPBP2	124626	broad.mit.edu	37	17	38033007	38033007	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38033007A>G	ENST00000377940.3	+	7	1035	c.896A>G	c.(895-897)tAt>tGt	p.Y299C	ZPBP2_ENST00000584588.1_Missense_Mutation_p.Y248C|ZPBP2_ENST00000348931.4_Missense_Mutation_p.Y321C	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	321					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			GTCCTTACCTATGGAGCTAAA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													203	188	193			NA	NA	17		NA											NA				38033007		2203	4300	6503	SO:0001583	missense			BC043152	CCDS11352.1, CCDS11353.2	17q21.1	2013-01-11			ENSG00000186075	ENSG00000186075	124626	124626		Immunoglobulin superfamily / Immunoglobulin-like domain containing	20678	protein-coding gene	gene with protein product		608499			NA		Standard	NM_198844	XM_005257031	NA	Approved	ZPBPL, MGC41930	uc002hte.3	Q6X784	OTTHUMG00000133022	ENST00000377940.3:c.896A>G	17.37:g.38033007A>G	ENSP00000367174:p.Tyr299Cys	NA	A8K8L8|Q6X783|Q86XL5	37	CCDS11353.2	.	.	.	.	.	.	.	.	.	.	A	7.367	0.626078	0.14257	.	.	ENSG00000186075	ENST00000348931;ENST00000377940	T;T	0.61627	0.09;0.09	5.96	4.89	0.63831	.	0.000000	0.56097	D	0.000023	T	0.73536	0.3599	M	0.73962	2.25	0.37904	D	0.931149	B;D	0.89917	0.36;1.0	B;D	0.97110	0.181;1.0	T	0.78206	-0.2294	10	0.87932	D	0	-19.5048	10.4054	0.44254	0.9256:0.0:0.0744:0.0	.	299;321	Q6X784-2;Q6X784	.;ZPBP2_HUMAN	C	321;299	ENSP00000335384:Y321C;ENSP00000367174:Y299C	ENSP00000335384:Y321C	Y	+	2	0	ZPBP2	35286533	0.986000	0.35501	0.350000	0.25708	0.502000	0.33828	3.932000	0.56537	1.082000	0.41137	0.533000	0.62120	TAT	ZPBP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256608.2		+	ENST00000377940.3	Missense_Mutation	SNP	17 : 38033007 - 38033007 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	998	163
ARHGAP29	9411	broad.mit.edu	37	1	94643433	94643433	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94643433T>A	ENST00000260526.6	-	21	2953	c.2771A>T	c.(2770-2772)aAg>aTg	p.K924M	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	924					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AAATAGTGACTTCATGGAACG	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	70	69			NA	NA	1		NA											NA				94643433		2203	4300	6503	SO:0001583	missense				CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962	9411	9411		Rho GTPase activating proteins	30207	protein-coding gene	gene with protein product		610496			NA	9305890	Standard	NM_004815	NM_004815	NA	Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.2771A>T	1.37:g.94643433T>A	ENSP00000260526:p.Lys924Met	NA	O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	37	CCDS748.1	.	.	.	.	.	.	.	.	.	.	T	17.03	3.283999	0.59867	.	.	ENSG00000137962	ENST00000260526	T	0.26660	1.72	5.55	5.55	0.83447	.	0.000000	0.40469	N	0.001092	T	0.37376	0.1001	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.987	T	0.17471	-1.0368	10	0.62326	D	0.03	-18.0172	16.008	0.80377	0.0:0.0:0.0:1.0	.	924;924	F8VWZ8;Q52LW3	.;RHG29_HUMAN	M	924	ENSP00000260526:K924M	ENSP00000260526:K924M	K	-	2	0	ARHGAP29	94416021	1.000000	0.71417	0.368000	0.25939	0.537000	0.34900	6.199000	0.72112	2.250000	0.74265	0.533000	0.62120	AAG	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029376.2		-	ENST00000260526.6	Missense_Mutation	SNP	1 : 94643433 - 94643433 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	301	64
AOC3	8639	broad.mit.edu	37	17	41004951	41004951	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41004951G>A	ENST00000308423.2	+	1	1751	c.1591G>A	c.(1591-1593)Gat>Aat	p.D531N		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	531					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GGTGGATCTGGATGTAGCAGG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(3;192 220 10664 11501 16477)							NA				0													45	42	43			NA	NA	17		NA											NA				41004951		2203	4300	6503	SO:0001583	missense			AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	8639	8639	1.4.3.21		550	protein-coding gene	gene with protein product	vascular adhesion protein 1	603735			NA	9653080, 8972912	Standard	NM_003734	NM_003734	NA	Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.1591G>A	17.37:g.41004951G>A	ENSP00000312326:p.Asp531Asn	NA	B2RCI5|Q45F94	37	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.042693	0.75732	.	.	ENSG00000131471	ENST00000308423	T	0.04502	3.61	5.26	5.26	0.73747	Copper amine oxidase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.33352	0.0860	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.43278	-0.9401	10	0.49607	T	0.09	.	19.2423	0.93888	0.0:0.0:1.0:0.0	.	531	Q16853	AOC3_HUMAN	N	531	ENSP00000312326:D531N	ENSP00000312326:D531N	D	+	1	0	AOC3	38258477	1.000000	0.71417	1.000000	0.80357	0.374000	0.29953	9.821000	0.99360	2.638000	0.89438	0.655000	0.94253	GAT	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452444.1		+	ENST00000308423.2	Missense_Mutation	SNP	17 : 41004951 - 41004951 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	276	51
SNRNP27	11017	broad.mit.edu	37	2	70123668	70123668	+	Missense_Mutation	SNP	C	C	T	rs142136097	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70123668C>T	ENST00000244227.3	+	3	681	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	SNRNP27_ENST00000488986.1_3'UTR|SNRNP27_ENST00000409116.1_Missense_Mutation_p.R86W	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)	86					mRNA processing|RNA splicing	nucleus	nucleic acid binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						gaGCAAAGAACGGCAGATTAC	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TRP/ARG	9,4389	15.5+/-35.6	0,9,2190	42	44	44		256	5.3	1	2	dbSNP_134	44	0,8598		0,0,4299	yes	missense	SNRNP27	NM_006857.2	101	0,9,6489	TT,TC,CC	NA	0.0,0.2046,0.0693	probably-damaging	86/156	70123668	9,12987	2199	4299	6498	SO:0001583	missense			X76302	CCDS33219.1	2p14	2011-10-11			ENSG00000124380	ENSG00000124380	11017	11017			30240	protein-coding gene	gene with protein product	nucleic acid binding protein RY 1				NA	7931148	Standard	NM_006857	NM_006857	NA	Approved	RY1	uc002sfw.3	Q8WVK2	OTTHUMG00000152689	ENST00000244227.3:c.256C>T	2.37:g.70123668C>T	ENSP00000244227:p.Arg86Trp	NA	Q15410	37	CCDS33219.1	.	.	.	.	.	.	.	.	.	.	c	14.98	2.696442	0.48202	0.002046	0.0	ENSG00000124380	ENST00000244227;ENST00000409116	T;T	0.31247	1.5;1.5	5.28	5.28	0.74379	Domain of unknown function DUF1777 (1);	0.162035	0.56097	D	0.000034	T	0.50171	0.1600	L	0.55990	1.75	0.49915	D	0.999831	D;D	0.89917	1.0;0.997	D;P	0.79784	0.993;0.898	T	0.46624	-0.9178	10	0.66056	D	0.02	.	14.285	0.66240	0.0:1.0:0.0:0.0	.	86;86	B8ZZ98;Q8WVK2	.;SNR27_HUMAN	W	86	ENSP00000244227:R86W;ENSP00000386608:R86W	ENSP00000244227:R86W	R	+	1	2	SNRNP27	69977172	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.920000	0.40025	2.750000	0.94351	0.585000	0.79938	CGG	SNRNP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327369.1		+	ENST00000244227.3	Missense_Mutation	SNP	2 : 70123668 - 70123668 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	151	29
TNNI3	7137	broad.mit.edu	37	19	55663256	55663256	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55663256C>A	ENST00000344887.5	-	8	721	c.579G>T	c.(577-579)aaG>aaT	p.K193N	TNNI3_ENST00000588882.1_Missense_Mutation_p.K168N	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	193					cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CATCGATGTTCTTGCGCCAGT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	127	126			NA	NA	19		NA											NA				55663256		1974	4160	6134	SO:0001583	missense			M64247	CCDS42628.1	19q13.4	2014-09-17	2005-09-12			ENSG00000129991	7137	7137			11947	protein-coding gene	gene with protein product		191044	troponin I, cardiac, cardiomyopathy, dilated 2A (autosomal recessive)	CMD2A	NA	9605869, 9241277, 10806205	Standard		NM_000363	NA	Approved	TNNC1, CMH7	uc002qjg.4	P19429		ENST00000344887.5:c.579G>T	19.37:g.55663256C>A	ENSP00000341838:p.Lys193Asn	NA		37	CCDS42628.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799476	0.70567	.	.	ENSG00000129991	ENST00000344887	D	0.98028	-4.67	4.46	2.3	0.28687	.	0.000000	0.64402	D	0.000005	D	0.98343	0.9450	M	0.82823	2.61	0.52099	D	0.999948	D	0.71674	0.998	D	0.78314	0.991	D	0.98117	1.0423	10	0.87932	D	0	-28.5851	10.1277	0.42661	0.0:0.8274:0.0:0.1726	.	193	P19429	TNNI3_HUMAN	N	193	ENSP00000341838:K193N	ENSP00000341838:K193N	K	-	3	2	TNNI3	60355068	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.068000	0.50018	0.447000	0.26695	-0.424000	0.05967	AAG	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452098.1		-	ENST00000344887.5	Missense_Mutation	SNP	19 : 55663256 - 55663256 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	288	60
CHD5	26038	broad.mit.edu	37	1	6211106	6211106	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6211106C>T	ENST00000262450.3	-	7	1079	c.980G>A	c.(979-981)cGc>cAc	p.R327H	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	327					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTTCTTCTTGCGCCTCCTCTT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	92	94			NA	NA	1		NA											NA				6211106		2203	4300	6503	SO:0001583	missense			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254	26038	26038		Zinc fingers, PHD-type	16816	protein-coding gene	gene with protein product		610771			NA	11889561, 12592387	Standard	NM_015557	NM_015557	NA	Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.980G>A	1.37:g.6211106C>T	ENSP00000262450:p.Arg327His	NA	O75032|Q5TG89|Q7LGH2|Q9UFR9	37	CCDS57.1	.	.	.	.	.	.	.	.	.	.	c	13.14	2.147784	0.37923	.	.	ENSG00000116254	ENST00000262450	D	0.85088	-1.94	4.0	2.0	0.26442	Zinc finger, FYVE/PHD-type (1);	0.085001	0.47093	U	0.000255	T	0.69593	0.3128	L	0.38175	1.15	0.80722	D	1	P	0.46220	0.874	B	0.32864	0.154	T	0.65100	-0.6250	10	0.87932	D	0	-18.1038	3.128	0.06413	0.3835:0.409:0.0:0.2075	.	327	Q8TDI0	CHD5_HUMAN	H	327	ENSP00000262450:R327H	ENSP00000262450:R327H	R	-	2	0	CHD5	6133693	1.000000	0.71417	0.997000	0.53966	0.827000	0.46813	2.966000	0.49208	0.261000	0.21753	-0.370000	0.07254	CGC	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000002823.2		-	ENST00000262450.3	Missense_Mutation	SNP	1 : 6211106 - 6211106 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	309	28
COLEC12	81035	broad.mit.edu	37	18	335176	335176	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:335176C>T	ENST00000400256.3	-	6	1589	c.1382G>A	c.(1381-1383)gGc>gAc	p.G461D		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	461	Collagen-like 1.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GCCAGTTGGGCCAGGGGGTCC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	39	38			NA	NA	18		NA											NA				335176		2197	4291	6488	SO:0001583	missense			AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270	81035	81035		Collectins	16016	protein-coding gene	gene with protein product		607621			NA	11162630	Standard		NM_130386	NA	Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1382G>A	18.37:g.335176C>T	ENSP00000383115:p.Gly461Asp	NA	Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	37	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695493	0.48202	.	.	ENSG00000158270	ENST00000400256	D	0.99532	-6.1	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97114	0.9806	10	0.87932	D	0	-14.1091	19.543	0.95281	0.0:1.0:0.0:0.0	.	461	Q5KU26	COL12_HUMAN	D	461	ENSP00000383115:G461D	ENSP00000383115:G461D	G	-	2	0	COLEC12	325176	1.000000	0.71417	0.795000	0.32087	0.473000	0.32948	7.764000	0.85297	2.601000	0.87937	0.591000	0.81541	GGC	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000440746.1		-	ENST00000400256.3	Missense_Mutation	SNP	18 : 335176 - 335176 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	392	68
LAMB1	3912	broad.mit.edu	37	7	107569959	107569959	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107569959C>T	ENST00000474380.1	-	0	879				LAMB1_ENST00000222399.6_Missense_Mutation_p.R1548H|LAMB1_ENST00000393561.1_Missense_Mutation_p.R1572H			P07942	LAMB1_HUMAN	laminin, beta 1	NA					axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AACTCGTTCACGTATATCTTC	0.423		NA											C	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	1	EXOME	NA	NA	3e-04	SNP								NA				0													200	167	179			NA	NA	7		NA											NA				107569959		2203	4300	6503	SO:0001623	5_prime_UTR_variant			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136	3912	3912		Laminins	6486	protein-coding gene	gene with protein product		150240	cutis laxa with marfanoid phenotype	CLM	NA	2563160, 2704655, 1864606	Standard	NM_002291	NM_002291	NA	Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000474380.1:c.-66G>A	7.37:g.107569959C>T		NA	Q14D91	37		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.45	3.626031	0.66901	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.78246	-1.16;-1.16	5.42	5.42	0.78866	Prefoldin (1);	.	.	.	.	D	0.86924	0.6050	M	0.64997	1.995	0.80722	D	1	P;D	0.89917	0.603;1.0	B;D	0.77557	0.093;0.99	D	0.85935	0.1454	9	0.48119	T	0.1	.	19.408	0.94656	0.0:1.0:0.0:0.0	.	1548;1572	P07942;G3XAI2	LAMB1_HUMAN;.	H	1572;1548	ENSP00000377191:R1572H;ENSP00000222399:R1548H	ENSP00000222399:R1548H	R	-	2	0	LAMB1	107357195	0.997000	0.39634	0.946000	0.38457	0.987000	0.75469	3.526000	0.53509	2.809000	0.96659	0.650000	0.86243	CGT	LAMB1-012	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000314595.1		-	ENST00000474380.1	5'UTR	SNP	7 : 107569959 - 107569959 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	353	80
CHMP2B	25978	broad.mit.edu	37	3	87294981	87294981	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:87294981G>T	ENST00000471660.1	+	2	404	c.121G>T	c.(121-123)Gtt>Ttt	p.V41F	CHMP2B_ENST00000263780.4_Missense_Mutation_p.V82F|CHMP2B_ENST00000494980.1_Intron|CHMP2B_ENST00000472024.1_3'UTR	NM_001244644.1	NP_001231573.1	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	82					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane|mitochondrion|nucleus	protein domain specific binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AAGTTCAAAAGTTACTTCTAT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	90	89			NA	NA	3		NA											NA				87294981		2203	4300	6503	SO:0001583	missense			BC001553	CCDS2918.1, CCDS58840.1	3p12.1	2011-09-21	2011-09-21		ENSG00000083937	ENSG00000083937	25978	25978		Charged multivesicular body proteins	24537	protein-coding gene	gene with protein product	VPS2 homolog B (S. cerevisiae)	609512	chromatin modifying protein 2B		NA	11559748	Standard	NM_014043	NM_014043	NA	Approved	DKFZP564O123, CHMP2.5, VPS2B	uc003dqp.4	Q9UQN3	OTTHUMG00000158982	ENST00000471660.1:c.121G>T	3.37:g.87294981G>T	ENSP00000419998:p.Val41Phe	NA	Q53HC7|Q9Y4U6	37	CCDS58840.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.906911	0.92107	.	.	ENSG00000083937	ENST00000471660;ENST00000263780	T;T	0.73363	-0.74;-0.74	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.84911	0.5577	M	0.71581	2.175	0.80722	D	1	D;D	0.58970	0.984;0.984	P;D	0.63877	0.903;0.919	D	0.86798	0.1990	10	0.72032	D	0.01	-5.8634	18.3121	0.90204	0.0:0.0:1.0:0.0	.	41;82	B4DJG8;Q9UQN3	.;CHM2B_HUMAN	F	41;82	ENSP00000419998:V41F;ENSP00000263780:V82F	ENSP00000263780:V82F	V	+	1	0	CHMP2B	87377671	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.471000	0.97696	2.297000	0.77311	0.655000	0.94253	GTT	CHMP2B-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352809.1		+	ENST00000471660.1	Missense_Mutation	SNP	3 : 87294981 - 87294981 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	277	50
AGXT2	64902	broad.mit.edu	37	5	35026586	35026586	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35026586C>T	ENST00000231420.6	-	8	999	c.799G>A	c.(799-801)Gag>Aag	p.E267K		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	267					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	TTGAATTGCTCAATATACTGA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	103	108			NA	NA	5		NA											NA				35026586		2203	4300	6503	SO:0001583	missense			AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	64902	64902	2.6.1.44		14412	protein-coding gene	gene with protein product	beta-alanine-pyruvate aminotransferase, beta-ALAAT II	612471	alanine-glyoxylate aminotransferase 2		NA	15240345	Standard	NM_031900	NM_031900	NA	Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.799G>A	5.37:g.35026586C>T	ENSP00000231420:p.Glu267Lys	NA	Q53FB4|Q53FY7|Q53G03|Q5W7Q1	37	CCDS3908.1	.	.	.	.	.	.	.	.	.	.	C	10.01	1.233410	0.22626	.	.	ENSG00000113492	ENST00000231420	T	0.21734	1.99	5.7	5.7	0.88788	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.329425	0.35838	N	0.002953	T	0.19485	0.0468	L	0.28014	0.82	0.40918	D	0.98428	B;B	0.30914	0.246;0.3	B;B	0.37091	0.241;0.105	T	0.04991	-1.0913	10	0.10111	T	0.7	-14.2225	19.438	0.94806	0.0:1.0:0.0:0.0	.	267;267	E9PDL7;Q9BYV1	.;AGT2_HUMAN	K	267	ENSP00000231420:E267K	ENSP00000231420:E267K	E	-	1	0	AGXT2	35062343	0.997000	0.39634	1.000000	0.80357	0.420000	0.31355	2.187000	0.42602	2.679000	0.91253	0.655000	0.94253	GAG	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207574.2		-	ENST00000231420.6	Missense_Mutation	SNP	5 : 35026586 - 35026586 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	310	38
PCED1B	91523	broad.mit.edu	37	12	47629701	47629701	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:47629701C>T	ENST00000546455.1	+	4	1586	c.855C>T	c.(853-855)caC>caT	p.H285H	PCED1B_ENST00000432328.1_Silent_p.H285H					PC-esterase domain containing 1B	NA											NA						ACAGAAATCAcccggccttac	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	25	24			NA	NA	12		NA											NA				47629701		2200	4286	6486	SO:0001819	synonymous_variant			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715	91523	91523			28255	protein-coding gene	gene with protein product			family with sequence similarity 113, member B	FAM113B	NA	20056006	Standard	NM_138371	NM_138371	NA	Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.855C>T	12.37:g.47629701C>T		NA		37	CCDS8752.1																																																																																			PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405079.1		+	ENST00000546455.1	Silent	SNP	12 : 47629701 - 47629701 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	150	31
LRP5	4041	broad.mit.edu	37	11	68171011	68171011	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68171011T>C	ENST00000294304.7	+	8	1751	c.1645T>C	c.(1645-1647)Ttt>Ctt	p.F549L		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	549	Beta-propeller 2.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCCGCACATTTTTGGGTTCAC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	83	90			NA	NA	11		NA											NA				68171011		2200	4294	6494	SO:0001583	missense			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337	4041	4041		Low density lipoprotein receptors	6697	protein-coding gene	gene with protein product		603506	osteoporosis pseudoglioma syndrome, exudative vitreoretinopathy 1	LRP7, OPPG, EVR1	NA	9714764, 10049586	Standard	NM_002335	XM_005273994	NA	Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.1645T>C	11.37:g.68171011T>C	ENSP00000294304:p.Phe549Leu	NA	Q96TD6|Q9UP66	37	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	T	32	5.155240	0.94686	.	.	ENSG00000162337	ENST00000294304	D	0.91124	-2.79	4.13	4.13	0.48395	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.50627	U	0.000110	D	0.94228	0.8147	M	0.85859	2.78	0.80722	D	1	P	0.36392	0.551	P	0.50754	0.649	D	0.95161	0.8281	10	0.87932	D	0	.	13.6309	0.62193	0.0:0.0:0.0:1.0	.	549	O75197	LRP5_HUMAN	L	549	ENSP00000294304:F549L	ENSP00000294304:F549L	F	+	1	0	LRP5	67927587	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	7.727000	0.84838	1.882000	0.54519	0.528000	0.53228	TTT	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395088.1		+	ENST00000294304.7	Missense_Mutation	SNP	11 : 68171011 - 68171011 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	443	71
KIAA0232	9778	broad.mit.edu	37	4	6864159	6864159	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6864159A>G	ENST00000307659.5	+	7	2505	c.2050A>G	c.(2050-2052)Aca>Gca	p.T684A	KIAA0232_ENST00000425103.1_Missense_Mutation_p.T684A	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	684							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						GCTTGGGAAAACACAGTCTAG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	61	62			NA	NA	4		NA											NA				6864159		1839	4088	5927	SO:0001583	missense			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871	9778	9778			28992	protein-coding gene	gene with protein product					NA	9039502	Standard	NM_014743	NM_014743	NA	Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.2050A>G	4.37:g.6864159A>G	ENSP00000303928:p.Thr684Ala	NA	A7E2D2	37	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	A	19.34	3.809461	0.70797	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.73	5.73	0.89815	.	0.047140	0.85682	D	0.000000	T	0.66107	0.2756	M	0.62723	1.935	0.54753	D	0.999986	P	0.51147	0.942	P	0.50659	0.647	T	0.70189	-0.4940	9	0.72032	D	0.01	-18.0415	16.0174	0.80450	1.0:0.0:0.0:0.0	.	684	Q92628	K0232_HUMAN	A	684	.	ENSP00000303928:T684A	T	+	1	0	KIAA0232	6915060	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.811000	0.91954	2.186000	0.69663	0.533000	0.62120	ACA	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359102.2		+	ENST00000307659.5	Missense_Mutation	SNP	4 : 6864159 - 6864159 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	196	36
ELF1	1997	broad.mit.edu	37	13	41507949	41507949	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:41507949G>A	ENST00000239882.3	-	9	1786	c.1472C>T	c.(1471-1473)gCg>gTg	p.A491V	ELF1_ENST00000442101.1_Missense_Mutation_p.A467V|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	491					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A491V(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		AGGAGAGCCCGCCTTTTGTGA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											127	135	132			NA	NA	13		NA											NA				41507949		2203	4300	6503	SO:0001583	missense			M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690	1997	1997			3316	protein-coding gene	gene with protein product		189973			NA	1545787	Standard	NM_172373	NM_001145353	NA	Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.1472C>T	13.37:g.41507949G>A	ENSP00000239882:p.Ala491Val	NA	Q8N6F6|Q9UDE1	37	CCDS9374.1	.	.	.	.	.	.	.	.	.	.	G	8.171	0.791692	0.16258	.	.	ENSG00000120690	ENST00000442101;ENST00000379498;ENST00000239882	T;T	0.42513	0.97;0.97	5.21	3.41	0.39046	.	0.334193	0.29205	N	0.012837	T	0.21921	0.0528	N	0.08118	0	0.22796	N	0.998728	B;B	0.23185	0.001;0.081	B;B	0.14578	0.002;0.011	T	0.12091	-1.0561	10	0.15066	T	0.55	.	13.9678	0.64221	0.0:0.0:0.7228:0.2772	.	467;491	E9PDQ9;P32519	.;ELF1_HUMAN	V	467;233;491	ENSP00000405580:A467V;ENSP00000239882:A491V	ENSP00000239882:A491V	A	-	2	0	ELF1	40405949	1.000000	0.71417	0.663000	0.29738	0.306000	0.27790	3.759000	0.55227	0.530000	0.28619	0.591000	0.81541	GCG	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044654.3		-	ENST00000239882.3	Missense_Mutation	SNP	13 : 41507949 - 41507949 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	617	24
GPR75-ASB3	100302652	broad.mit.edu	37	2	53977992	53977992	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:53977992C>T	ENST00000263634.3	-	3	417	c.283G>A	c.(283-285)Gta>Ata	p.V95I	GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.V22I|ASB3_ENST00000406625.2_Missense_Mutation_p.V130I|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.V133I|GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.V22I|ASB3_ENST00000498475.2_Intron	NM_016115.4	NP_057199.1	Q2TAI4	Q2TAI4_HUMAN	GPR75-ASB3 readthrough	130					intracellular signal transduction						NA						AGAATCTGTACGATTTTCCAA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	108	108			NA	NA	2		NA											NA				53977992		2203	4300	6503	SO:0001583	missense				CCDS54361.1	2p16	2013-01-23			ENSG00000115239	ENSG00000115239	100302652	100302652			40043	other	readthrough					NA		Standard		NM_001164165	NA	Approved				OTTHUMG00000129279	ENST00000263634.3:c.283G>A	2.37:g.53977992C>T	ENSP00000263634:p.Val95Ile	NA		37	CCDS1846.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.20|12.20	1.868004|1.868004	0.32977|0.32977	.|.	.|.	ENSG00000115239|ENSG00000115239	ENST00000406053|ENST00000263634;ENST00000406625;ENST00000406687;ENST00000394717;ENST00000352846;ENST00000446049	.|T;T;T;T;T	.|0.71222	.|-0.55;-0.55;-0.55;-0.55;-0.55	5.54|5.54	0.0467|0.0467	0.14278|0.14278	.|Ankyrin repeat-containing domain (4);	.|0.456485	.|0.21812	.|N	.|0.068745	T|T	0.65491|0.65491	0.2696|0.2696	M|M	0.72479|0.72479	2.2|2.2	.|0.28312	.|N	.|0.922643	.|B;B;B	.|0.28933	.|0.008;0.228;0.142	.|B;B;B	.|0.29176	.|0.008;0.099;0.035	T|T	0.66040|0.66040	-0.6022|-0.6022	4|9	.|0.31617	.|T	.|0.26	-8.1936|-8.1936	11.6191|11.6191	0.51106|0.51106	0.0:0.6858:0.0:0.3142|0.0:0.6858:0.0:0.3142	.|.	.|95;130;95	.|B4DZX6;Q2TAI4;Q9Y575	.|.;.;ASB3_HUMAN	H|I	87|95;130;22;22;133;95	.|ENSP00000263634:V95I;ENSP00000385085:V130I;ENSP00000384728:V22I;ENSP00000378206:V22I;ENSP00000313756:V133I	.|ENSP00000263634:V95I	R|V	-|-	2|1	0|0	ASB3|ASB3	53831496|53831496	0.000000|0.000000	0.05858|0.05858	0.048000|0.048000	0.18961|0.18961	0.933000|0.933000	0.57130|0.57130	-0.820000|-0.820000	0.04457|0.04457	0.029000|0.029000	0.15352|0.15352	0.591000|0.591000	0.81541|0.81541	CGT|GTA	GPR75-ASB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251402.3		-	ENST00000263634.3	Missense_Mutation	SNP	2 : 53977992 - 53977992 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	438	63
GTF3C2	2976	broad.mit.edu	37	2	27565074	27565074	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27565074G>A	ENST00000359541.2	-	4	1025	c.596C>T	c.(595-597)gCt>gTt	p.A199V	GTF3C2_ENST00000264720.3_Missense_Mutation_p.A199V|AC109828.1_ENST00000590383.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	199						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGCTCTTCAGCCAGTTCCTG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	41	41			NA	NA	2		NA											NA				27565074		2203	4300	6503	SO:0001583	missense			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207	2976	2976		General transcription factors, WD repeat domain containing	4665	protein-coding gene	gene with protein product		604883	general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)		NA	7729686	Standard		NM_001521	NA	Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.596C>T	2.37:g.27565074G>A	ENSP00000352536:p.Ala199Val	NA	D6W557|Q16632|Q9BWI7	37	CCDS1749.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908321	0.92107	.	.	ENSG00000115207	ENST00000359541;ENST00000264720	D;D	0.82984	-1.67;-1.67	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.85371	0.5681	N	0.24115	0.695	0.51482	D	0.999922	D;D;D	0.71674	0.998;0.993;0.998	D;D;D	0.80764	0.994;0.978;0.994	D	0.86109	0.1561	10	0.48119	T	0.1	-11.8481	16.7685	0.85529	0.0:0.0:1.0:0.0	.	199;199;199	Q8WUA4-2;Q8WUA4;Q53QN0	.;TF3C2_HUMAN;.	V	199	ENSP00000352536:A199V;ENSP00000264720:A199V	ENSP00000264720:A199V	A	-	2	0	GTF3C2	27418578	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.583000	0.67484	2.570000	0.86706	0.467000	0.42956	GCT	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000215028.2		-	ENST00000359541.2	Missense_Mutation	SNP	2 : 27565074 - 27565074 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	283	80
DNHD1	144132	broad.mit.edu	37	11	6523988	6523988	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6523988A>C	ENST00000527990.2	+	2	752	c.752A>C	c.(751-753)cAg>cCg	p.Q251P	DNHD1_ENST00000254579.6_Missense_Mutation_p.Q251P|DNHD1_ENST00000354685.3_Missense_Mutation_p.Q251P			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	251					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CACAGGTCTCAGCTTGACTAT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	70	73			NA	NA	11		NA											NA				6523988		2201	4296	6497	SO:0001583	missense			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532	144132	144132			26532	protein-coding gene	gene with protein product			chromosome 11 open reading frame 47, dynein heavy chain domain 1-like, coiled-coil domain containing 35	DHCD1, C11orf47, DNHD1L, CCDC35	NA	12975309	Standard	NM_144666	NM_173589	NA	Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.752A>C	11.37:g.6523988A>C	ENSP00000436180:p.Gln251Pro	NA	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	A	10.78	1.446580	0.25987	.	.	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.27402	1.67;2.66;1.67	5.63	3.17	0.36434	.	1.037430	0.07577	N	0.919635	T	0.41719	0.1171	M	0.68317	2.08	0.09310	N	1	P;D	0.60160	0.917;0.987	B;P	0.52217	0.446;0.693	T	0.18335	-1.0340	10	0.23891	T	0.37	.	8.0455	0.30547	0.6741:0.0:0.0:0.3259	.	251;251	Q96M86;Q96M86-4	DNHD1_HUMAN;.	P	251	ENSP00000254579:Q251P;ENSP00000346716:Q251P;ENSP00000436180:Q251P	ENSP00000254579:Q251P	Q	+	2	0	DNHD1	6480564	0.000000	0.05858	0.016000	0.15963	0.281000	0.26958	-0.175000	0.09825	0.338000	0.23692	0.455000	0.32223	CAG	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384673.2		+	ENST00000527990.2	Missense_Mutation	SNP	11 : 6523988 - 6523988 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	237	40
IKBKAP	8518	broad.mit.edu	37	9	111685171	111685171	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111685171G>A	ENST00000374647.5	-	6	810	c.503C>T	c.(502-504)aCa>aTa	p.T168I	IKBKAP_ENST00000537196.1_Intron	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	168					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ATGGAACTGTGTCTCCTTCCT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													211	185	194			NA	NA	9		NA											NA				111685171		2203	4300	6503	SO:0001583	missense			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061	8518	8518		Elongator acetyltransferase complex subunits	5959	protein-coding gene	gene with protein product	elongator acetyltransferase complex subunit 1	603722	dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)	DYS	NA	9751059, 11179008	Standard		NM_003640	NA	Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.503C>T	9.37:g.111685171G>A	ENSP00000363779:p.Thr168Ile	NA	Q5JSV2|Q9H327|Q9UG87	37	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761755	0.89932	.	.	ENSG00000070061	ENST00000374647	T	0.55930	0.49	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.80783	0.4689	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85921	0.1446	10	0.87932	D	0	-12.1967	17.1551	0.86790	0.0:0.0:1.0:0.0	.	168	O95163	ELP1_HUMAN	I	168	ENSP00000363779:T168I	ENSP00000363779:T168I	T	-	2	0	IKBKAP	110724992	1.000000	0.71417	0.963000	0.40424	0.997000	0.91878	9.088000	0.94132	2.639000	0.89480	0.650000	0.86243	ACA	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053574.1		-	ENST00000374647.5	Missense_Mutation	SNP	9 : 111685171 - 111685171 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	667	133
C10orf54	64115	broad.mit.edu	37	10	73521597	73521597	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73521597C>T	ENST00000394957.3	-	2	327	c.269G>A	c.(268-270)cGc>cAc	p.R90H	C10orf54_ENST00000481568.2_5'UTR|CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	90	Ig-like.					integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CGTGAGGTTGCGGATGGGCCG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	103	104			NA	NA	10		NA											NA				73521597		2203	4300	6503	SO:0001583	missense			AF193048	CCDS31218.1	10q22.1	2013-11-28			ENSG00000107738	ENSG00000107738	64115	64115		Immunoglobulin superfamily / V-set domain containing	30085	protein-coding gene	gene with protein product	stress induced secreted protein 1	615608			NA	12975309	Standard	NM_022153	NM_022153	NA	Approved	SISP1, GI24, B7-H5, B7H5	uc001jsd.3	Q9H7M9	OTTHUMG00000018426	ENST00000394957.3:c.269G>A	10.37:g.73521597C>T	ENSP00000378409:p.Arg90His	NA	A8MVH5|Q6UXF3|Q8WUG3|Q8WYZ8	37	CCDS31218.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727148	0.89390	.	.	ENSG00000107738	ENST00000394957;ENST00000263569	T	0.58358	0.34	5.75	5.75	0.90469	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.047659	0.85682	D	0.000000	T	0.70351	0.3214	M	0.71581	2.175	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.993	T	0.72500	-0.4274	10	0.72032	D	0.01	-15.4596	13.1811	0.59655	0.0:0.9272:0.0:0.0728	.	86;90	Q2TA85;Q9H7M9	.;GI24_HUMAN	H	90;86	ENSP00000378409:R90H	ENSP00000263569:R86H	R	-	2	0	C10orf54	73191603	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.786000	0.55431	2.720000	0.93068	0.655000	0.94253	CGC	C10orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048548.1		-	ENST00000394957.3	Missense_Mutation	SNP	10 : 73521597 - 73521597 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	58
ICAM1	3383	broad.mit.edu	37	19	10395085	10395085	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10395085C>T	ENST00000264832.3	+	5	1257	c.932C>T	c.(931-933)cCg>cTg	p.P311L	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Missense_Mutation_p.P89L	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	311					adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	p.P311L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	CCAGGCTTTCCGGCGCCCAAC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	ovary(1)											NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense				CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339	3383	3383		CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Endogenous ligands	5344	protein-coding gene	gene with protein product	human rhinovirus receptor	147840			NA	2453850, 3871395	Standard		NM_000201	NA	Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.932C>T	19.37:g.10395085C>T	ENSP00000264832:p.Pro311Leu	NA	B2R6M3|Q5NKV7|Q96B50	37	CCDS12231.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.645558	0.29246	.	.	ENSG00000090339	ENST00000264832;ENST00000423829	T;T	0.16743	2.32;2.32	4.1	0.43	0.16515	Immunoglobulin-like fold (1);	0.337248	0.21388	N	0.075359	T	0.27098	0.0664	L	0.58428	1.81	0.09310	N	0.999999	D;P	0.89917	1.0;0.777	D;B	0.77557	0.99;0.141	T	0.13683	-1.0500	10	0.21540	T	0.41	-13.2516	4.4224	0.11486	0.3955:0.4935:0.0:0.111	.	89;311	E7ESS4;P05362	.;ICAM1_HUMAN	L	311;89	ENSP00000264832:P311L;ENSP00000413124:P89L	ENSP00000264832:P311L	P	+	2	0	ICAM1	10256085	0.209000	0.23505	0.025000	0.17156	0.014000	0.08584	0.929000	0.28844	0.079000	0.16929	0.407000	0.27541	CCG	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451207.1		+	ENST00000264832.3	Missense_Mutation	SNP	19 : 10395085 - 10395085 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	532	106
XKR9	389668	broad.mit.edu	37	8	71646532	71646532	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71646532G>T	ENST00000408926.3	+	5	1529	c.995G>T	c.(994-996)gGa>gTa	p.G332V	XKR9_ENST00000520030.1_Missense_Mutation_p.G332V|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	332						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			CTTCTTCTTGGAATTCTTTTT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	58	57			NA	NA	8		NA											NA				71646532		2203	4297	6500	SO:0001583	missense			AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947	389668	389668			20937	protein-coding gene	gene with protein product			X Kell blood group precursor-related family, member 9		NA		Standard	NM_001011720	NM_001287258	NA	Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.995G>T	8.37:g.71646532G>T	ENSP00000386141:p.Gly332Val	NA	B2RNS9|B9EH74	37	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034078	0.75504	.	.	ENSG00000221947	ENST00000408926;ENST00000520030	T;T	0.78816	-1.21;-1.21	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.89504	0.6734	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91059	0.4884	10	0.87932	D	0	-12.7087	18.4549	0.90717	0.0:0.0:1.0:0.0	.	332	Q5GH70	XKR9_HUMAN	V	332	ENSP00000386141:G332V;ENSP00000431088:G332V	ENSP00000386141:G332V	G	+	2	0	XKR9	71809086	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.920000	0.75799	2.592000	0.87571	0.557000	0.71058	GGA	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378752.1		+	ENST00000408926.3	Missense_Mutation	SNP	8 : 71646532 - 71646532 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	107	14
COL10A1	1300	broad.mit.edu	37	6	116442730	116442730	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116442730A>G	ENST00000327673.4	-	2	956	c.549T>C	c.(547-549)ggT>ggC	p.G183G	AL121963.1_ENST00000430695.1_Intron|NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Silent_p.G183G			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	183	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GTCCATTCATACCAGGGACTC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	47	47			NA	NA	6		NA											NA				116442730		2203	4300	6503	SO:0001819	synonymous_variant				CCDS5105.1	6q21-q22	2013-01-16	2008-07-29		ENSG00000123500	ENSG00000123500	1300	1300		Collagens	2185	protein-coding gene	gene with protein product	Schmid metaphyseal chondrodysplasia	120110			NA	2037056	Standard		XM_006715332	NA	Approved		uc003pwm.3	Q03692	OTTHUMG00000015426	ENST00000327673.4:c.549T>C	6.37:g.116442730A>G		NA	A1L4P2	37	CCDS5105.1																																																																																			COL10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041926.1		-	ENST00000327673.4	Silent	SNP	6 : 116442730 - 116442730 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	301	61
MYBPHL	343263	broad.mit.edu	37	1	109838933	109838933	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109838933T>C	ENST00000357155.1	-	6	839	c.790A>G	c.(790-792)Acc>Gcc	p.T264A	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	264	Ig-like C2-type 2.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		AGAGGCTGGGTAAACTTTGGG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	108	106			NA	NA	1		NA											NA				109838933		2203	4300	6503	SO:0001583	missense			AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986	343263	343263		Myosin binding proteins, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	30434	protein-coding gene	gene with protein product					NA		Standard	NM_001010985	NM_001010985	NA	Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.790A>G	1.37:g.109838933T>C	ENSP00000349678:p.Thr264Ala	NA	Q5T2Z7	37	CCDS30793.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.612854	0.87258	.	.	ENSG00000221986	ENST00000357155	T	0.74526	-0.85	5.01	5.01	0.66863	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72120	0.3421	M	0.85373	2.75	0.49389	D	0.999782	P;P	0.38167	0.619;0.621	B;B	0.44133	0.442;0.394	T	0.73193	-0.4060	9	0.27082	T	0.32	.	12.723	0.57152	0.0:0.0:0.0:1.0	.	241;264	B7ZME5;A2RUH7	.;MBPHL_HUMAN	A	264	ENSP00000349678:T264A	ENSP00000349678:T264A	T	-	1	0	MYBPHL	109640456	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.463000	0.80869	2.116000	0.64780	0.459000	0.35465	ACC	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033197.1		-	ENST00000357155.1	Missense_Mutation	SNP	1 : 109838933 - 109838933 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	597	74
ZNF544	27300	broad.mit.edu	37	19	58773074	58773074	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58773074C>A	ENST00000600220.1	+	5	1252	c.1018C>A	c.(1018-1020)Ctc>Atc	p.L340I	ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000415203.2_Missense_Mutation_p.L340I|ZNF544_ENST00000600044.1_Missense_Mutation_p.L340I|ZNF544_ENST00000596652.1_Missense_Mutation_p.L368I|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000269829.4_Missense_Mutation_p.L368I|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000596825.1_3'UTR|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000599953.1_Missense_Mutation_p.L226I			Q6NX49	ZN544_HUMAN	zinc finger protein 544	368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		CTGTTGTAAGCTCATACACCA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	81	82			NA	NA	19		NA											NA				58773074		2203	4300	6503	SO:0001583	missense			AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131	27300	27300		Zinc fingers, C2H2-type, -	16759	protein-coding gene	gene with protein product	zinc finger protein AF020591				NA		Standard	NM_014480	NM_014480	NA	Approved	AF020591	uc010euo.3	Q6NX49		ENST00000600220.1:c.1018C>A	19.37:g.58773074C>A	ENSP00000471684:p.Leu340Ile	NA	A8K6J1|Q9UEX4	37		.	.	.	.	.	.	.	.	.	.	C	0.027	-1.364951	0.01235	.	.	ENSG00000198131	ENST00000269829;ENST00000415203;ENST00000441758	T;T	0.15139	2.45;2.45	2.54	1.4	0.22301	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05318	0.0141	N	0.03253	-0.375	0.19300	N	0.999974	B;B;B	0.30542	0.215;0.017;0.284	B;B;B	0.22880	0.042;0.005;0.018	T	0.40098	-0.9581	9	0.10377	T	0.69	.	5.7326	0.18049	0.0:0.8304:0.0:0.1696	.	340;340;368	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	I	368;340;32	ENSP00000269829:L368I;ENSP00000394341:L340I	ENSP00000269829:L368I	L	+	1	0	ZNF544	63464886	0.000000	0.05858	0.012000	0.15200	0.191000	0.23601	-0.664000	0.05292	0.355000	0.24131	0.491000	0.48974	CTC	ZNF544-006	NOVEL	alternative_5_UTR|basic	protein_coding	NA	protein_coding	OTTHUMT00000466756.1		+	ENST00000600220.1	Missense_Mutation	SNP	19 : 58773074 - 58773074 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	380	64
GGCX	2677	broad.mit.edu	37	2	85780133	85780133	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85780133G>A	ENST00000233838.4	-	9	1296	c.1216C>T	c.(1216-1218)Cgc>Tgc	p.R406C	GGCX_ENST00000473665.1_5'UTR|GGCX_ENST00000430215.3_Missense_Mutation_p.R349C	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	NA					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	TGGTGGGAGCGGGAGTGCACC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													187	164	172			NA	NA	2		NA											NA				85780133		2203	4300	6503	SO:0001583	missense				CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486	2677	2677			4247	protein-coding gene	gene with protein product	vitamin K-dependent gamma-carboxylase	137167			NA	1749935	Standard	NM_000821	NM_000821	NA	Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.1216C>T	2.37:g.85780133G>A	ENSP00000233838:p.Arg406Cys	NA	Q14415|Q6GU45	37	CCDS1978.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359350	0.82353	.	.	ENSG00000115486	ENST00000233838;ENST00000430215	D;D	0.93488	-3.23;-3.23	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.96253	0.8778	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.76071	0.987;0.905;0.964	D	0.96178	0.9128	10	0.56958	D	0.05	-17.0852	16.974	0.86309	0.0:0.0:1.0:0.0	.	349;245;406	E9PEE1;B4DQW4;P38435	.;.;VKGC_HUMAN	C	406;349	ENSP00000233838:R406C;ENSP00000408045:R349C	ENSP00000233838:R406C	R	-	1	0	GGCX	85633644	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.033000	0.93741	2.601000	0.87937	0.655000	0.94253	CGC	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252490.3		-	ENST00000233838.4	Missense_Mutation	SNP	2 : 85780133 - 85780133 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	668	104
NID1	4811	broad.mit.edu	37	1	236212173	236212173	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236212173G>A	ENST00000264187.6	-	2	424	c.342C>T	c.(340-342)acC>acT	p.T114T	NID1_ENST00000366595.3_Silent_p.T114T	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	114	NIDO.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CCAGGCCATCGGTCGTGTCCA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	71	69			NA	NA	1		NA											NA				236212173		2203	4300	6503	SO:0001819	synonymous_variant			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962	4811	4811			7821	protein-coding gene	gene with protein product		131390	nidogen (enactin)	NID	NA	2471408, 7557988	Standard	NM_002508	NM_002508	NA	Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.342C>T	1.37:g.236212173G>A		NA	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	37	CCDS1608.1																																																																																			NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096647.2		-	ENST00000264187.6	Silent	SNP	1 : 236212173 - 236212173 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	414	17
KDM2B	84678	broad.mit.edu	37	12	121881856	121881856	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121881856G>A	ENST00000377069.4	-	16	2723	c.2317C>T	c.(2317-2319)Cgg>Tgg	p.R773W	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.R172W|KDM2B_ENST00000377071.4_Missense_Mutation_p.R804W	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	804					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCGTATTTCCGCTTCTTCCTC	0.657		NA									OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	79	77			NA	NA	12		NA											NA				121881856		2036	4166	6202	SO:0001583	missense			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094	84678	84678		F-boxes / Leucine-rich repeats, Chromatin-modifying enzymes / K-demethylases	13610	protein-coding gene	gene with protein product	jumonji C domain-containing histone demethylase 1B	609078	F-box and leucine-rich repeat protein 10	FBXL10	NA	10799292	Standard	NM_032590	NM_032590	NA	Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377069.4:c.2317C>T	12.37:g.121881856G>A	ENSP00000366269:p.Arg773Trp	1514	Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	37	CCDS41849.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031468	0.75504	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.26518	2.01;2.25;1.73	5.92	5.02	0.67125	.	0.275088	0.24502	N	0.037974	T	0.45357	0.1338	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	P;D;P;D	0.65987	0.876;0.94;0.874;0.912	T	0.42344	-0.9457	10	0.66056	D	0.02	-10.6048	15.1846	0.72989	0.0:0.0:0.6697:0.3303	.	244;804;773;247	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	W	804;172;773;804;247;807	ENSP00000437821:R172W;ENSP00000366269:R773W;ENSP00000366271:R804W	ENSP00000261824:R807W	R	-	1	2	KDM2B	120366239	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.394000	0.52551	1.491000	0.48482	0.561000	0.74099	CGG	KDM2B-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402131.2		-	ENST00000377069.4	Missense_Mutation	SNP	12 : 121881856 - 121881856 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	777	166
C10orf12	26148	broad.mit.edu	37	10	98741161	98741161	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98741161C>A	ENST00000286067.2	+	1	121	c.14C>A	c.(13-15)gCt>gAt	p.A5D		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	5										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CAGAGTTCAGCTTTAGTAGAA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	67	68			NA	NA	10		NA											NA				98741161		2203	4300	6503	SO:0001583	missense			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640	26148	26148			23420	protein-coding gene	gene with protein product					NA	24550272	Standard	NM_015652	NM_015652	NA	Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.14C>A	10.37:g.98741161C>A	ENSP00000286067:p.Ala5Asp	NA	Q9H945|Q9Y457	37	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008834	0.35415	.	.	ENSG00000155640	ENST00000286067	T	0.16196	2.36	5.85	5.85	0.93711	.	0.000000	0.44097	D	0.000497	T	0.29850	0.0746	L	0.34521	1.04	0.35268	D	0.780209	D	0.76494	0.999	D	0.68192	0.956	T	0.22521	-1.0214	10	0.72032	D	0.01	-5.4603	13.3765	0.60741	0.0:0.9282:0.0:0.0718	.	5	Q8N655	CJ012_HUMAN	D	5	ENSP00000286067:A5D	ENSP00000286067:A5D	A	+	2	0	C10orf12	98731151	0.993000	0.37304	0.994000	0.49952	0.065000	0.16274	2.805000	0.47939	2.775000	0.95449	0.591000	0.81541	GCT	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049627.1		+	ENST00000286067.2	Missense_Mutation	SNP	10 : 98741161 - 98741161 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	332	39
HEATR2	54919	broad.mit.edu	37	7	796502	796502	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:796502G>A	ENST00000297440.6	+	6	1361	c.1341G>A	c.(1339-1341)acG>acA	p.T447T	HEATR2_ENST00000313147.5_Silent_p.T447T	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	447							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TGAAGAAGACGCCCTCTGCCT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	85	85			NA	NA	7		NA											NA				796502		2203	4300	6503	SO:0001819	synonymous_variant			AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818	54919	54919			26013	protein-coding gene	gene with protein product		614864			NA	23040496	Standard	NM_017802	NM_017802	NA	Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.1341G>A	7.37:g.796502G>A		NA	Q69YL1|Q96FI9|Q9NX75	37	CCDS34580.1	.	.	.	.	.	.	.	.	.	.	G	0.424	-0.906673	0.02434	.	.	ENSG00000164818	ENST00000440747	.	.	.	5.49	-11.0	0.00169	.	.	.	.	.	T	0.24044	0.0582	.	.	.	0.21325	N	0.99972	.	.	.	.	.	.	T	0.17745	-1.0359	4	.	.	.	-5.2294	8.587	0.33664	0.6847:0.0758:0.088:0.1516	.	.	.	.	T	249	.	.	A	+	1	0	HEATR2	763028	0.006000	0.16342	0.000000	0.03702	0.014000	0.08584	-0.928000	0.03980	-2.750000	0.00375	-0.749000	0.03505	GCC	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322542.1		+	ENST00000297440.6	Silent	SNP	7 : 796502 - 796502 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	543	101
NELFA	7469	broad.mit.edu	37	4	1987506	1987506	+	Silent	SNP	C	C	T	rs151160222		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1987506C>T	ENST00000382882.3	-	7	2071	c.954G>A	c.(952-954)acG>acA	p.T318T	NELFA_ENST00000542778.1_Silent_p.T172T|NELFA_ENST00000411638.2_Silent_p.T307T					negative elongation factor complex member A	NA											NA						GCCCTACCTGCGTGGACACCA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								A		1,4405		0,1,2202	44	41	42		954	-8.3	0.9	4	dbSNP_134	42	1,8599		0,1,4299	no	coding-synonymous	WHSC2	NM_005663.4		0,2,6501	TT,TC,CC	NA	0.0116,0.0227,0.0154		318/540	1987506	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049	7469	7469			12768	protein-coding gene	gene with protein product		606026	Wolf-Hirschhorn syndrome candidate 2	WHSC2	NA	10409432	Standard	NM_005663	NM_005663	NA	Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000382882.3:c.954G>A	4.37:g.1987506C>T		NA		37	CCDS3358.2	.	.	.	.	.	.	.	.	.	.	c	2.770	-0.255841	0.05829	2.27E-4	1.16E-4	ENSG00000185049	ENST00000453740	.	.	.	4.14	-8.28	0.01013	.	.	.	.	.	T	0.34395	0.0896	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39643	-0.9604	4	.	.	.	-15.9098	2.0535	0.03576	0.2093:0.3585:0.1069:0.3253	.	.	.	.	H	208	.	.	R	-	2	0	WHSC2	1957304	0.000000	0.05858	0.860000	0.33809	0.128000	0.20619	-3.944000	0.00329	-1.642000	0.01521	-1.199000	0.01669	CGC	NELFA-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000205240.3		-	ENST00000382882.3	Silent	SNP	4 : 1987506 - 1987506 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	204	32
ABCC6	368	broad.mit.edu	37	16	16276333	16276333	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:16276333G>A	ENST00000205557.7	-	17	2212	c.2183C>T	c.(2182-2184)gCc>gTc	p.A728V	ABCC6_ENST00000574094.1_Intron	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	728	ABC transporter 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CAGGGCACAGGCTTCTAGTAC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	81	82			NA	NA	16		NA											NA				16276333		2197	4300	6497	SO:0001583	missense			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262	368	368		ATP binding cassette transporters / subfamily C	57	protein-coding gene	gene with protein product		603234	pseudoxanthoma elasticum	ARA, PXE	NA	9721217, 11439001	Standard		NM_001079528	NA	Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.2183C>T	16.37:g.16276333G>A	ENSP00000205557:p.Ala728Val	NA	P78420|Q9UMZ7	37	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.136748	0.56936	.	.	ENSG00000091262	ENST00000205557;ENST00000456970	D;D	0.94046	-3.34;-3.34	4.62	4.62	0.57501	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.48767	U	0.000164	D	0.94693	0.8288	L	0.37897	1.145	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95589	0.8653	10	0.87932	D	0	.	16.2357	0.82371	0.0:0.0:1.0:0.0	.	728	O95255	MRP6_HUMAN	V	728	ENSP00000205557:A728V;ENSP00000405002:A728V	ENSP00000205557:A728V	A	-	2	0	ABCC6	16183834	1.000000	0.71417	0.991000	0.47740	0.049000	0.14656	6.247000	0.72411	2.113000	0.64589	0.491000	0.48974	GCC	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252232.2		-	ENST00000205557.7	Missense_Mutation	SNP	16 : 16276333 - 16276333 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	11
PCDHB3	56132	broad.mit.edu	37	5	140480933	140480933	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140480933G>A	ENST00000231130.2	+	1	700	c.700G>A	c.(700-702)Gat>Aat	p.D234N	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	234	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAGGTCTTAGATATAAACGA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	50	49			NA	NA	5		NA											NA				140480933		2203	4300	6503	SO:0001583	missense			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205	56132	56132		Cadherins / Protocadherins : Clustered	8688	other	protocadherin		606329			NA	10380929	Standard	NM_018937	NM_018937	NA	Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.700G>A	5.37:g.140480933G>A	ENSP00000231130:p.Asp234Asn	NA	B2R8P2	37	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308185	0.81247	.	.	ENSG00000113205	ENST00000231130	T	0.74209	-0.82	4.93	4.93	0.64822	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.90242	0.6949	H	0.94264	3.515	0.50313	D	0.999865	D	0.89917	1.0	D	0.97110	1.0	D	0.93048	0.6463	9	0.87932	D	0	.	18.1419	0.89642	0.0:0.0:1.0:0.0	.	234	Q9Y5E6	PCDB3_HUMAN	N	234	ENSP00000231130:D234N	ENSP00000231130:D234N	D	+	1	0	PCDHB3	140461117	1.000000	0.71417	0.800000	0.32199	0.536000	0.34869	9.788000	0.99064	2.438000	0.82558	0.655000	0.94253	GAT	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251817.2		+	ENST00000231130.2	Missense_Mutation	SNP	5 : 140480933 - 140480933 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	399	84
LIN37	55957	broad.mit.edu	37	19	36245052	36245052	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36245052C>T	ENST00000301159.9	+	7	943	c.579C>T	c.(577-579)gaC>gaT	p.D193D	AC002398.9_ENST00000591613.2_3'UTR	NM_019104.2	NP_061977	Q96GY3	LIN37_HUMAN	lin-37 DREAM MuvB core complex component	193	Pro-rich.						protein binding			large_intestine(1)|lung(5)	6	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCACCCCTGACGATGAGGTGA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	56	54			NA	NA	19		NA											NA				36245052		2089	4213	6302	SO:0001819	synonymous_variant			BC008939	CCDS62642.1	19q13.12	2014-07-17	2014-07-17		ENSG00000267796	ENSG00000267796	55957	55957			33234	protein-coding gene	gene with protein product			lin-37 homolog (C. elegans)		NA	21498570	Standard	NM_019104	NM_019104	NA	Approved	ZK418.4, F25965, lin-37	uc021usw.1	Q96GY3	OTTHUMG00000182070	ENST00000301159.9:c.579C>T	19.37:g.36245052C>T		NA	A8KAQ1|O14557|Q7Z2T9	37																																																																																				LIN37-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000459109.2		+	ENST00000301159.9	Silent	SNP	19 : 36245052 - 36245052 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	325	65
EPAS1	2034	broad.mit.edu	37	2	46605830	46605830	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46605830A>G	ENST00000263734.3	+	11	1988	c.1478A>G	c.(1477-1479)gAt>gGt	p.D493G		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	493					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			ACATCTTTGGATAACGACCTG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	133	136			NA	NA	2		NA											NA				46605830		2203	4300	6503	SO:0001583	missense			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016	2034	2034		Basic helix-loop-helix proteins	3374	protein-coding gene	gene with protein product	HIF-1 alpha-like factor	603349			NA	9000051, 9079689, 18378852	Standard	NM_001430	NM_001430	NA	Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1478A>G	2.37:g.46605830A>G	ENSP00000263734:p.Asp493Gly	NA	Q86VA2|Q99630	37	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	A	11.01	1.512374	0.27036	.	.	ENSG00000116016	ENST00000263734	T	0.52526	0.66	5.54	1.95	0.26073	.	0.700275	0.14954	N	0.288729	T	0.37461	0.1004	L	0.40543	1.245	0.43540	D	0.995834	B	0.09022	0.002	B	0.10450	0.005	T	0.21518	-1.0243	10	0.66056	D	0.02	.	8.9887	0.36010	0.7974:0.0:0.2026:0.0	.	493	Q99814	EPAS1_HUMAN	G	493	ENSP00000263734:D493G	ENSP00000263734:D493G	D	+	2	0	EPAS1	46459334	1.000000	0.71417	0.007000	0.13788	0.082000	0.17680	2.229000	0.42990	0.410000	0.25675	0.528000	0.53228	GAT	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250752.2		+	ENST00000263734.3	Missense_Mutation	SNP	2 : 46605830 - 46605830 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	477	25
ZNF236	7776	broad.mit.edu	37	18	74649280	74649280	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74649280C>T	ENST00000253159.8	+	26	4955	c.4757C>T	c.(4756-4758)aCa>aTa	p.T1586I	ZNF236_ENST00000320610.9_Missense_Mutation_p.T1588I	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1586					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GACACTGTCACACTCAACATC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	57	57			NA	NA	18		NA											NA				74649280		2081	4214	6295	SO:0001583	missense			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856	7776	7776		Zinc fingers, C2H2-type	13028	protein-coding gene	gene with protein product		604760			NA	10458916	Standard		NM_007345	NA	Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.4757C>T	18.37:g.74649280C>T	ENSP00000253159:p.Thr1586Ile	NA	B2RTX9|Q9UL37	37	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494537	0.44352	.	.	ENSG00000130856	ENST00000253159	T	0.10960	2.82	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.23806	0.0576	L	0.32530	0.975	0.34972	D	0.753266	D	0.76494	0.999	D	0.63488	0.915	T	0.02378	-1.1168	10	0.46703	T	0.11	.	20.089	0.97809	0.0:1.0:0.0:0.0	.	1586	Q9UL36	ZN236_HUMAN	I	1586	ENSP00000253159:T1586I	ENSP00000253159:T1586I	T	+	2	0	ZNF236	72778268	1.000000	0.71417	0.337000	0.25536	0.961000	0.63080	6.460000	0.73518	2.752000	0.94435	0.557000	0.71058	ACA	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445776.1		+	ENST00000253159.8	Missense_Mutation	SNP	18 : 74649280 - 74649280 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	166	31
PIN1	5300	broad.mit.edu	37	19	9949194	9949194	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9949194C>T	ENST00000247970.4	+	2	163	c.141C>T	c.(139-141)aaC>aaT	p.N47N	PIN1_ENST00000587625.1_Silent_p.N47N|PIN1_ENST00000380889.6_3'UTR|PIN1_ENST00000588695.1_Silent_p.N47N	NM_006221.3	NP_006212.1	Q13526	PIN1_HUMAN	peptidylprolyl cis/trans isomerase, NIMA-interacting 1	47					cell cycle|negative regulation of cell motility|negative regulation of ERK1 and ERK2 cascade|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of type I interferon production|positive regulation of Rho GTPase activity|positive regulation of ubiquitin-protein ligase activity|protein folding|regulation of mitosis|regulation of pathway-restricted SMAD protein phosphorylation	nucleoplasm	GTPase activating protein binding|mitogen-activated protein kinase kinase binding|peptidyl-prolyl cis-trans isomerase activity|phosphoserine binding|phosphothreonine binding			skin(3)	3						GTGGCAAAAACGGGCAGGGGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	20	19			NA	NA	19		NA											NA				9949194		2201	4296	6497	SO:0001819	synonymous_variant				CCDS12220.1	19p13	2014-09-17	2008-03-25		ENSG00000127445	ENSG00000127445	5300	5300			8988	protein-coding gene	gene with protein product		601052	protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting 1		NA	8606777	Standard		NM_006221	NA	Approved	dod	uc002mml.2	Q13526		ENST00000247970.4:c.141C>T	19.37:g.9949194C>T		NA	A8K4V9|Q53X75	37	CCDS12220.1																																																																																			PIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451107.1		+	ENST00000247970.4	Silent	SNP	19 : 9949194 - 9949194 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	86	17
RCAN1	1827	broad.mit.edu	37	21	35890400	35890400	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35890400C>T	ENST00000481448.1	-	5	1197	c.711G>A	c.(709-711)acG>acA	p.T237T	RCAN1_ENST00000443408.2_Silent_p.T112T|RCAN1_ENST00000313806.4_Silent_p.T247T|RCAN1_ENST00000482533.1_Silent_p.T112T|RCAN1_ENST00000399272.1_Silent_p.T166T|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000487990.1_Silent_p.T112T|RCAN1_ENST00000381132.2_Silent_p.T192T|RCAN1_ENST00000381135.3_Silent_p.T237T			P53805	RCAN1_HUMAN	regulator of calcineurin 1	247					blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						GGTGGATCGGCGTGTACTCCG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	157	164			NA	NA	21		NA											NA				35890400		2203	4300	6503	SO:0001819	synonymous_variant				CCDS13637.1, CCDS33551.1, CCDS42921.1, CCDS74788.1, CCDS74790.1	21q22.1-q22.2	2010-08-11	2007-06-26	2007-06-26	ENSG00000159200	ENSG00000159200	1827	1827			3040	protein-coding gene	gene with protein product		602917	Down syndrome critical region gene 1	DSCR1	NA	8595418	Standard		XM_005260929	NA	Approved		uc002yue.3	P53805	OTTHUMG00000086235	ENST00000481448.1:c.711G>A	21.37:g.35890400C>T		NA	D3DSF9|O00582|O00583|Q53XT0|Q6IBC6|Q7Z555|Q96R03|Q9BU69|Q9UF15|Q9UME4	37																																																																																				RCAN1-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000194146.2		-	ENST00000481448.1	Silent	SNP	21 : 35890400 - 35890400 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	866	45
GINS2	51659	broad.mit.edu	37	16	85712255	85712255	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85712255G>A	ENST00000253462.3	-	4	423	c.323C>T	c.(322-324)cCg>cTg	p.P108L		NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	108					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	nucleoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)	6						GTCTGCCTTCGGGATGTTGTC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	112	116			NA	NA	16		NA											NA				85712255		2198	4300	6498	SO:0001583	missense			BC003186	CCDS10953.1	16q24.1	2008-02-05			ENSG00000131153	ENSG00000131153	51659	51659			24575	protein-coding gene	gene with protein product		610609			NA	11042152, 10810093	Standard	NM_016095	NM_016095	NA	Approved	PSF2, Pfs2	uc002fja.3	Q9Y248	OTTHUMG00000137646	ENST00000253462.3:c.323C>T	16.37:g.85712255G>A	ENSP00000253462:p.Pro108Leu	NA	D3DUM5|Q6IAG9	37	CCDS10953.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337646	0.81911	.	.	ENSG00000131153	ENST00000253462	.	.	.	5.53	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.78362	0.4271	M	0.83953	2.67	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	T	0.79921	-0.1599	9	0.42905	T	0.14	-34.2138	13.9823	0.64313	0.0732:0.0:0.9268:0.0	.	108	Q9Y248	PSF2_HUMAN	L	108	.	ENSP00000253462:P108L	P	-	2	0	GINS2	84269756	1.000000	0.71417	0.995000	0.50966	0.900000	0.52787	9.257000	0.95545	1.349000	0.45751	-0.259000	0.10710	CCG	GINS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269098.1		-	ENST00000253462.3	Missense_Mutation	SNP	16 : 85712255 - 85712255 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	662	102
PNLIP	5406	broad.mit.edu	37	10	118307977	118307977	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118307977C>A	ENST00000369221.2	+	4	335	c.307C>A	c.(307-309)Ctg>Atg	p.L103M	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	103					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	AGAAAACTGGCTGGCCAATGT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	128	129			NA	NA	10		NA											NA				118307977		2203	4300	6503	SO:0001583	missense			BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	5406	5406	3.1.1.3		9155	protein-coding gene	gene with protein product		246600			NA	1783385	Standard	NM_000936	NM_000936	NA	Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.307C>A	10.37:g.118307977C>A	ENSP00000358223:p.Leu103Met	NA	Q5VSQ2	37	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.072303	0.36566	.	.	ENSG00000175535	ENST00000369221	D	0.91180	-2.8	5.39	3.51	0.40186	Lipase, N-terminal (1);	0.555568	0.16090	N	0.230103	D	0.91663	0.7365	L	0.46157	1.445	0.40797	D	0.983309	D	0.76494	0.999	D	0.75484	0.986	D	0.88885	0.3342	10	0.33940	T	0.23	.	7.0787	0.25219	0.1402:0.7053:0.0:0.1544	.	103	P16233	LIPP_HUMAN	M	103	ENSP00000358223:L103M	ENSP00000358223:L103M	L	+	1	2	PNLIP	118297967	0.393000	0.25237	0.981000	0.43875	0.485000	0.33311	-0.281000	0.08456	1.517000	0.48917	0.585000	0.79938	CTG	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050524.1		+	ENST00000369221.2	Missense_Mutation	SNP	10 : 118307977 - 118307977 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	777	138
SLC38A1	81539	broad.mit.edu	37	12	46591706	46591706	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46591706G>A	ENST00000552197.1	-	15	1944	c.1260C>T	c.(1258-1260)gtC>gtT	p.V420V	SLC38A1_ENST00000546893.1_Silent_p.V420V|SLC38A1_ENST00000549049.1_Silent_p.V420V|SLC38A1_ENST00000398637.5_Silent_p.V420V|SLC38A1_ENST00000439706.1_Silent_p.V420V	NM_001278390.1	NP_001265319.1	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	420					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CCATACCTACGACTCCAAAAA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	89	92			NA	NA	12		NA											NA				46591706		1889	4124	6013	SO:0001819	synonymous_variant			AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371	81539	81539		Solute carriers	13447	protein-coding gene	gene with protein product		608490			NA	10891391	Standard		NM_030674	NA	Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000552197.1:c.1260C>T	12.37:g.46591706G>A		NA	Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	37																																																																																				SLC38A1-001	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000404220.1		-	ENST00000552197.1	Silent	SNP	12 : 46591706 - 46591706 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	72
PLCH1	23007	broad.mit.edu	37	3	155222376	155222376	+	Nonsense_Mutation	SNP	G	G	A	rs142222970		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:155222376G>A	ENST00000460012.1	-	13	1939	c.1582C>T	c.(1582-1584)Cga>Tga	p.R528*	PLCH1_ENST00000447496.2_Nonsense_Mutation_p.R546*|PLCH1_ENST00000334686.6_Nonsense_Mutation_p.R528*|PLCH1_ENST00000414191.1_Nonsense_Mutation_p.R528*|PLCH1_ENST00000340059.7_Nonsense_Mutation_p.R546*|PLCH1_ENST00000494598.1_Nonsense_Mutation_p.R546*			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	546					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATGAGGGATCGTCCATGTGAT	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	stop/ARG,stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	145	133	137		1636,1636,1582	5.2	1	3	dbSNP_134	137	0,8600		0,0,4300	no	stop-gained,stop-gained,stop-gained	PLCH1	NM_001130960.1,NM_001130961.1,NM_014996.2	,,	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	,,	546/1694,546/1003,528/1656	155222376	1,13005	2203	4300	6503	SO:0001587	stop_gained			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	23007	23007	3.1.4.11	EF-hand domain containing	29185	protein-coding gene	gene with protein product		612835	phospholipase C-like 3	PLCL3	NA	15702972	Standard	NM_014996	NM_014996	NA	Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000460012.1:c.1582C>T	3.37:g.155222376G>A	ENSP00000417502:p.Arg528*	NA	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	37	CCDS33881.1	.	.	.	.	.	.	.	.	.	.	G	40	8.501984	0.98838	2.27E-4	0.0	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	.	.	.	5.19	5.19	0.71726	.	1.248860	0.05659	N	0.586524	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8058	0.57612	0.0:0.0:0.8367:0.1633	.	.	.	.	X	546;528;546;546;528;528	.	ENSP00000335469:R528X	R	-	1	2	PLCH1	156705070	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.425000	0.52771	2.571000	0.86741	0.655000	0.94253	CGA	PLCH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351123.2		-	ENST00000460012.1	Nonsense_Mutation	SNP	3 : 155222376 - 155222376 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	201	31
GBP4	115361	broad.mit.edu	37	1	89655896	89655896	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89655896G>A	ENST00000355754.6	-	7	1119	c.1022C>T	c.(1021-1023)gCt>gTt	p.A341V		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	341						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		CCTCTGCACAGCCGCTGGGTT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	62	63			NA	NA	1		NA											NA				89655896		2203	4300	6503	SO:0001583	missense			AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654	115361	115361			20480	protein-coding gene	gene with protein product		612466			NA	16689661	Standard	NM_052941	NM_052941	NA	Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.1022C>T	1.37:g.89655896G>A	ENSP00000359490:p.Ala341Val	NA	B2R630|Q05D63|Q6NSL0|Q86T99	37	CCDS721.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492929	0.84962	.	.	ENSG00000162654	ENST00000355754	T	0.09817	2.94	5.07	5.07	0.68467	Guanylate-binding protein, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.34366	0.0895	M	0.90977	3.165	0.38393	D	0.945461	D	0.89917	1.0	D	0.72075	0.976	T	0.39187	-0.9626	10	0.87932	D	0	.	16.3386	0.83074	0.0:0.0:1.0:0.0	.	341	Q96PP9	GBP4_HUMAN	V	341	ENSP00000359490:A341V	ENSP00000359490:A341V	A	-	2	0	GBP4	89428484	0.999000	0.42202	0.181000	0.23098	0.005000	0.04900	4.089000	0.57685	2.797000	0.96272	0.655000	0.94253	GCT	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029409.1		-	ENST00000355754.6	Missense_Mutation	SNP	1 : 89655896 - 89655896 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	385	79
MMRN1	22915	broad.mit.edu	37	4	90874186	90874186	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90874186G>A	ENST00000508372.1	+	8	2814	c.2530G>A	c.(2530-2532)Gca>Aca	p.A844T	MMRN1_ENST00000264790.2_Missense_Mutation_p.A1102T|MMRN1_ENST00000394981.1_Missense_Mutation_p.A405T|MMRN1_ENST00000394980.1_Missense_Mutation_p.A1102T			Q13201	MMRN1_HUMAN	multimerin 1	1102					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ACCCATGGTGGCATTTTTTGC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	109	108			NA	NA	4		NA											NA				90874186		2203	4299	6502	SO:0001583	missense			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722	22915	22915		EMI domain containing	7178	protein-coding gene	gene with protein product	glycoprotein Ia*	601456	multimerin	MMRN	NA	7629143, 10828608	Standard	NM_007351	NM_007351	NA	Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000508372.1:c.2530G>A	4.37:g.90874186G>A	ENSP00000426461:p.Ala844Thr	NA	Q4W5L1|Q6P3T8|Q6ZUL9	37		.	.	.	.	.	.	.	.	.	.	G	22.9	4.347667	0.82022	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000394981;ENST00000508372	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	4.73	4.73	0.59995	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.178274	0.39083	N	0.001472	D	0.91895	0.7434	M	0.73598	2.24	0.34893	D	0.745759	D;D	0.89917	0.996;1.0	D;D	0.91635	0.974;0.999	D	0.94910	0.8064	10	0.72032	D	0.01	.	16.7536	0.85493	0.0:0.0:1.0:0.0	.	405;1102	Q13201-2;Q13201	.;MMRN1_HUMAN	T	1102;1102;405;844	ENSP00000378431:A1102T;ENSP00000264790:A1102T;ENSP00000378432:A405T;ENSP00000426461:A844T	ENSP00000264790:A1102T	A	+	1	0	MMRN1	91093209	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.628000	0.61282	2.569000	0.86673	0.484000	0.47621	GCA	MMRN1-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000364071.1		+	ENST00000508372.1	Missense_Mutation	SNP	4 : 90874186 - 90874186 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	668	115
ANKRD17	26057	broad.mit.edu	37	4	73964157	73964157	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73964157C>T	ENST00000358602.4	-	26	4770	c.4654G>A	c.(4654-4656)Gca>Aca	p.A1552T	ANKRD17_ENST00000330838.6_Missense_Mutation_p.A1301T|ANKRD17_ENST00000509867.2_Missense_Mutation_p.A1439T	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1552					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGAGAACCTGCCAAAGTTGTC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	73	73			NA	NA	4		NA											NA				73964157		2203	4300	6503	SO:0001583	missense			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466	26057	26057		Ankyrin repeat domain containing	23575	protein-coding gene	gene with protein product		615929			NA	11165478	Standard	NM_032217	NM_032217	NA	Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.4654G>A	4.37:g.73964157C>T	ENSP00000351416:p.Ala1552Thr	NA	Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.793271	0.31685	.	.	ENSG00000132466	ENST00000358602;ENST00000330838;ENST00000509867	T;T;T	0.63913	-0.07;-0.02;-0.04	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000003	T	0.40743	0.1129	N	0.05078	-0.115	0.40466	D	0.98029	B;B;B;B	0.20550	0.046;0.046;0.027;0.027	B;B;B;B	0.21360	0.034;0.034;0.015;0.006	T	0.44003	-0.9356	10	0.02654	T	1	.	19.7158	0.96119	0.0:1.0:0.0:0.0	.	1551;1301;1552;1439	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	T	1552;1301;1439	ENSP00000351416:A1552T;ENSP00000332265:A1301T;ENSP00000427151:A1439T	ENSP00000332265:A1301T	A	-	1	0	ANKRD17	74183021	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.465000	0.53064	2.669000	0.90835	0.591000	0.81541	GCA	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362475.1		-	ENST00000358602.4	Missense_Mutation	SNP	4 : 73964157 - 73964157 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	416	68
TP53BP1	7158	broad.mit.edu	37	15	43713271	43713271	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43713271C>T	ENST00000382039.3	-	20	4162				TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1401H|TP53BP1_ENST00000263801.3_Missense_Mutation_p.R1396H|TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1401H			Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	NA					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CCCACGCCCACGAGGCGTGAC	0.572		NA						Other conserved DNA damage response genes						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	100	104			NA	NA	15		NA											NA				43713271		2201	4298	6499	SO:0001627	intron_variant			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369	7158	7158			11999	protein-coding gene	gene with protein product		605230	tumor protein p53-binding protein, 1		NA	8016121, 9748285	Standard		NM_005657	NA	Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000382039.3:c.4101-338G>A	15.37:g.43713271C>T		NA	Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	37		.	.	.	.	.	.	.	.	.	.	C	21.3	4.124623	0.77436	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000450115	T;T;T	0.16597	2.36;2.36;2.33	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.34164	0.0888	L	0.32530	0.975	0.53688	D	0.999976	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.991;0.982;0.992;0.992	T	0.04522	-1.0945	10	0.72032	D	0.01	-11.394	19.5806	0.95465	0.0:1.0:0.0:0.0	.	1401;1396;1401;1401	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	H	1396;1401;1401	ENSP00000263801:R1396H;ENSP00000371475:R1401H;ENSP00000393497:R1401H	ENSP00000263801:R1396H	R	-	2	0	TP53BP1	41500563	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.943000	0.70211	2.686000	0.91538	0.650000	0.86243	CGT	TP53BP1-004	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000132899.3		-	ENST00000382039.3	Intron	SNP	15 : 43713271 - 43713271 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	563	129
BRINP2	57795	broad.mit.edu	37	1	177247923	177247923	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177247923T>C	ENST00000361539.4	+	7	1547		c.e7+2		BRINP2_ENST00000478325.1_Splice_Site	NM_021165.2	NP_066988.1			bone morphogenetic protein/retinoic acid inducible neural-specific 2	NA											NA						CAAGGAGAGGTGAGCACCCCC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	35	35			NA	NA	1		NA											NA				177247923		2203	4300	6503	SO:0001630	splice_region_variant				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797	57795	57795			13746	protein-coding gene	gene with protein product			family with sequence similarity 5, member B	FAM5B	NA	15193423	Standard	NM_021165	NM_021165	NA	Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1235+2T>C	1.37:g.177247923T>C		NA		37	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.460510	0.84317	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8821	0.70542	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM5B	175514546	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.888000	0.87302	2.000000	0.58554	0.533000	0.62120	.	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084599.1	Intron	+	ENST00000361539.4	Splice_Site	SNP	1 : 177247923 - 177247923 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	375	20
INTS1	26173	broad.mit.edu	37	7	1538957	1538957	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1538957C>A	ENST00000404767.3	-	7	969	c.884G>T	c.(883-885)aGc>aTc	p.S295I	INTS1_ENST00000389470.4_Missense_Mutation_p.S423I	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	295					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTCCGTCTGGCTGTCCTCCTC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	77	74			NA	NA	7		NA											NA				1538957		2071	4207	6278	SO:0001583	missense			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880	26173	26173			24555	protein-coding gene	gene with protein product		611345			NA	16239144	Standard		NM_001080453	NA	Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.884G>T	7.37:g.1538957C>A	ENSP00000385722:p.Ser295Ile	NA	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	37	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769171	0.49680	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.48836	0.8;0.81	4.85	4.85	0.62838	.	0.203137	0.50627	D	0.000108	T	0.50222	0.1603	L	0.46157	1.445	0.39377	D	0.966195	P;P	0.45011	0.848;0.82	P;B	0.45829	0.494;0.312	T	0.58025	-0.7709	10	0.62326	D	0.03	.	17.9689	0.89107	0.0:1.0:0.0:0.0	.	423;295	A4D212;Q8N201	.;INT1_HUMAN	I	295;423	ENSP00000385722:S295I;ENSP00000374121:S423I	ENSP00000374121:S423I	S	-	2	0	INTS1	1505483	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	2.937000	0.48979	2.229000	0.72834	0.563000	0.77884	AGC	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323683.1		-	ENST00000404767.3	Missense_Mutation	SNP	7 : 1538957 - 1538957 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	919	145
IRX2	153572	broad.mit.edu	37	5	2747723	2747723	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2747723G>A	ENST00000382611.6	-	4	1619	c.1371C>T	c.(1369-1371)agC>agT	p.S457S	IRX2_ENST00000302057.5_Silent_p.S457S	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	457						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TGCAGCCCTCGCTGGCATCTG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	40	41			NA	NA	5		NA											NA				2747723		2203	4300	6503	SO:0001819	synonymous_variant			AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561	153572	153572		Homeoboxes / TALE class	14359	protein-coding gene	gene with protein product		606198			NA	11435706	Standard		NM_033267	NA	Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.1371C>T	5.37:g.2747723G>A		NA	Q68A19|Q7Z2I7	37	CCDS3868.1																																																																																			IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206749.2		-	ENST00000382611.6	Silent	SNP	5 : 2747723 - 2747723 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	284	76
ITGB4	3691	broad.mit.edu	37	17	73752585	73752585	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73752585C>A	ENST00000200181.3	+	36	4971	c.4784C>A	c.(4783-4785)tCc>tAc	p.S1595Y	ITGB4_ENST00000579662.1_Missense_Mutation_p.S1525Y|ITGB4_ENST00000339591.3_Missense_Mutation_p.S1578Y|ITGB4_ENST00000450894.3_Missense_Mutation_p.S1525Y|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000449880.2_Missense_Mutation_p.S1578Y	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1595	Fibronectin type-III 3.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCAACCACTCCTACGTGTTC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	106	105			NA	NA	17		NA											NA				73752585		2203	4300	6503	SO:0001583	missense				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470	3691	3691		CD molecules, Integrins, Fibronectin type III domain containing	6158	protein-coding gene	gene with protein product		147557			NA	2070796	Standard		XM_005257309	NA	Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.4784C>A	17.37:g.73752585C>A	ENSP00000200181:p.Ser1595Tyr	NA	O14690|O14691|O15339|O15340|O15341|Q9UIQ4	37	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.153050	0.57259	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.58210	0.35;0.35;0.35	5.19	5.19	0.71726	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74726	0.3754	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.77981	-0.2383	10	0.87932	D	0	.	19.0727	0.93147	0.0:1.0:0.0:0.0	.	1578;1525;1595	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	Y	1595;1578;1578	ENSP00000200181:S1595Y;ENSP00000344079:S1578Y;ENSP00000400217:S1578Y	ENSP00000200181:S1595Y	S	+	2	0	ITGB4	71264180	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	2.590000	0.87494	0.455000	0.32223	TCC	ITGB4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448334.1		+	ENST00000200181.3	Missense_Mutation	SNP	17 : 73752585 - 73752585 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	856	139
DNAH3	55567	broad.mit.edu	37	16	20959914	20959914	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20959914C>T	ENST00000261383.3	-	57	11233	c.11234G>A	c.(11233-11235)cGt>cAt	p.R3745H	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3745					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CAGCAGGAGACGCCGGTCTTT	0.517		NA											C	1	5e-04	NA	NA	2184	0.0017	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9135	LOWCOV,EXOME	NA	NA	0.005	SNP								NA				0													103	91	95			NA	NA	16		NA											NA				20959914		2201	4300	6501	SO:0001583	missense			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486	55567	55567		Axonemal dyneins	2949	protein-coding gene	gene with protein product		603334	dynein, axonemal, heavy polypeptide 3		NA	9256245, 9373155	Standard	NM_017539	NM_017539	NA	Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.11234G>A	16.37:g.20959914C>T	ENSP00000261383:p.Arg3745His	NA	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	37	CCDS10594.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	31	5.103288	0.94245	.	.	ENSG00000158486	ENST00000261383	T	0.12984	2.63	5.9	4.94	0.65067	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.51261	0.1664	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68884	-0.5291	10	0.72032	D	0.01	.	16.4922	0.84205	0.1321:0.8679:0.0:0.0	.	3745	Q8TD57	DYH3_HUMAN	H	3745	ENSP00000261383:R3745H	ENSP00000261383:R3745H	R	-	2	0	DNAH3	20867415	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	1.482000	0.48325	0.650000	0.86243	CGT	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207361.1		-	ENST00000261383.3	Missense_Mutation	SNP	16 : 20959914 - 20959914 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	213	43
SIPA1	6494	broad.mit.edu	37	11	65416912	65416912	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65416912C>A	ENST00000527525.1	+	11	2427	c.2180C>A	c.(2179-2181)aCt>aAt	p.T727N	SIPA1_ENST00000394227.3_Missense_Mutation_p.T727N|SIPA1_ENST00000534313.1_Missense_Mutation_p.T829N|SIPA1_ENST00000394224.3_Missense_Mutation_p.T829N			Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	829	PDZ.				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GAGGAGAGGACTGAGTTCCTG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	42	44			NA	NA	11		NA											NA				65416912		2199	4292	6491	SO:0001583	missense			AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445	6494	6494			10885	protein-coding gene	gene with protein product		602180			NA	9027487	Standard	NM_006747	NM_006747	NA	Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000527525.1:c.2180C>A	11.37:g.65416912C>A	ENSP00000433686:p.Thr727Asn	NA	O14518|O60484|O60618|Q2YD83	37		.	.	.	.	.	.	.	.	.	.	C	13.16	2.155263	0.38021	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.82893	-1.66;-1.65;-1.66;-1.65	4.63	4.63	0.57726	.	0.420510	0.18841	U	0.129695	D	0.84745	0.5540	L	0.32530	0.975	0.25394	N	0.988508	D;D	0.76494	0.999;0.998	D;D	0.78314	0.991;0.987	T	0.74867	-0.3518	10	0.19590	T	0.45	-14.4206	13.3654	0.60680	0.0:1.0:0.0:0.0	.	727;829	F6RY50;Q96FS4	.;SIPA1_HUMAN	N	829;727;829;727	ENSP00000436269:T829N;ENSP00000433686:T727N;ENSP00000377771:T829N;ENSP00000377774:T727N	ENSP00000377771:T829N	T	+	2	0	SIPA1	65173488	0.994000	0.37717	0.932000	0.37286	0.428000	0.31595	4.182000	0.58310	2.283000	0.76528	0.462000	0.41574	ACT	SIPA1-002	NOVEL	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000390355.1		+	ENST00000527525.1	Missense_Mutation	SNP	11 : 65416912 - 65416912 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	90	18
ACSBG1	23205	broad.mit.edu	37	15	78474929	78474929	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78474929T>C	ENST00000258873.4	-	7	978	c.773A>G	c.(772-774)gAa>gGa	p.E258G	ACSBG1_ENST00000560817.1_Missense_Mutation_p.E16G|ACSBG1_ENST00000541759.1_Missense_Mutation_p.E16G	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	258					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CTCAGGCACTTCATTCCCCAG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	71	74			NA	NA	15		NA											NA				78474929		2196	4293	6489	SO:0001583	missense			AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740	23205	23205		Acyl-CoA synthetase family	29567	protein-coding gene	gene with protein product	bubblegum, very long-chain acyl-CoA synthetase, lipidosin	614362			NA	9734811, 10954726	Standard	NM_015162	NM_015162	NA	Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.773A>G	15.37:g.78474929T>C	ENSP00000258873:p.Glu258Gly	NA	B2RB61|O75126|Q76N27|Q9HC26	37	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	T	12.86	2.063865	0.36373	.	.	ENSG00000103740	ENST00000258873;ENST00000541759	T;T	0.10668	2.85;2.85	5.16	4.03	0.46877	AMP-dependent synthetase/ligase (1);	0.557117	0.18063	N	0.152890	T	0.08582	0.0213	L	0.34521	1.04	0.18873	N	0.999983	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.004	T	0.32981	-0.9886	10	0.23891	T	0.37	-1.6861	9.7706	0.40587	0.0:0.0821:0.0:0.9179	.	254;258	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	G	258;16	ENSP00000258873:E258G;ENSP00000439955:E16G	ENSP00000258873:E258G	E	-	2	0	ACSBG1	76261984	0.954000	0.32549	0.001000	0.08648	0.511000	0.34104	3.434000	0.52841	0.806000	0.34183	0.529000	0.55759	GAA	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000289802.2		-	ENST00000258873.4	Missense_Mutation	SNP	15 : 78474929 - 78474929 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	56
ZNF304	57343	broad.mit.edu	37	19	57868033	57868033	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57868033C>A	ENST00000282286.5	+	3	969	c.796C>A	c.(796-798)Ctt>Att	p.L266I	ZNF304_ENST00000391705.3_Missense_Mutation_p.L266I|ZNF304_ENST00000443917.2_Missense_Mutation_p.L313I|ZNF304_ENST00000598744.1_Missense_Mutation_p.L224I			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GAAATCAGCTCTTATTAATCA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	89	90			NA	NA	19		NA											NA				57868033		2203	4300	6503	SO:0001583	missense			AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845	57343	57343		Zinc fingers, C2H2-type, -	13505	protein-coding gene	gene with protein product		613840			NA		Standard		XM_005259090	NA	Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.796C>A	19.37:g.57868033C>A	ENSP00000282286:p.Leu266Ile	NA		37	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	c	13.68	2.307999	0.40895	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.27104	1.69;1.69;1.69	3.7	2.67	0.31697	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38983	0.1061	M	0.89534	3.04	0.09310	N	1	B;B	0.12630	0.006;0.005	B;B	0.25140	0.058;0.015	T	0.42515	-0.9447	9	0.72032	D	0.01	.	10.8293	0.46650	0.0:0.9012:0.0:0.0988	.	266;313	Q9HCX3;E7EQD3	ZN304_HUMAN;.	I	266;266;313	ENSP00000282286:L266I;ENSP00000375586:L266I;ENSP00000401642:L313I	ENSP00000282286:L266I	L	+	1	0	ZNF304	62559845	0.000000	0.05858	0.008000	0.14137	0.578000	0.36192	-0.166000	0.09954	1.150000	0.42419	0.454000	0.30748	CTT	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465785.1		+	ENST00000282286.5	Missense_Mutation	SNP	19 : 57868033 - 57868033 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	426	66
CACHD1	57685	broad.mit.edu	37	1	65129424	65129424	+	Nonsense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65129424T>G	ENST00000290039.5	+	14	1951	c.1845T>G	c.(1843-1845)taT>taG	p.Y615*	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000371073.2_Nonsense_Mutation_p.Y666*	NM_020925.2	NP_065976.2	Q5VU97	CAHD1_HUMAN	cache domain containing 1	666					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CCTCCCCCTATGAGCACCTCA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	171	172			NA	NA	1		NA											NA				65129424		2203	4300	6503	SO:0001587	stop_gained			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966	57685	57685			29314	protein-coding gene	gene with protein product			von Willebrand factor type A and cache domain containing 1	VWCD1	NA	10997877	Standard	NM_020925	NM_020925	NA	Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000290039.5:c.1845T>G	1.37:g.65129424T>G	ENSP00000290039:p.Tyr615*	NA	Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	37	CCDS628.2	.	.	.	.	.	.	.	.	.	.	T	39	7.571816	0.98365	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	.	.	.	5.92	-5.19	0.02832	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.2379	15.5787	0.76414	0.0:0.2889:0.0:0.7111	.	.	.	.	X	666;615	.	ENSP00000290039:Y615X	Y	+	3	2	CACHD1	64902012	0.175000	0.23083	0.855000	0.33649	0.990000	0.78478	-0.484000	0.06528	-0.793000	0.04475	-0.334000	0.08254	TAT	CACHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025238.1		+	ENST00000290039.5	Nonsense_Mutation	SNP	1 : 65129424 - 65129424 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1209	136
DCLK1	9201	broad.mit.edu	37	13	36396968	36396968	+	Silent	SNP	G	G	A	rs143725017	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36396968G>A	ENST00000255448.4	-	11	1663	c.1452C>T	c.(1450-1452)acC>acT	p.T484T	DCLK1_ENST00000379893.1_Silent_p.T177T|DCLK1_ENST00000360631.3_Silent_p.T484T	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	484	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CGTCTCTCTCGGTGTATTTGT	0.522		NA											G	4	0.0018	0.01	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0018	1	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0								G	,,	50,4356	51.6+/-87.1	1,48,2154	197	171	180		531,531,1452	-11.7	0	13	dbSNP_134	180	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	DCLK1	NM_001195415.1,NM_001195416.1,NM_004734.4	,,	1,48,6454	AA,AG,GG	NA	0.0,1.1348,0.3844	,,	177/423,177/434,484/730	36396968	50,12956	2203	4300	6503	SO:0001819	synonymous_variant			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083	9201	9201			2700	protein-coding gene	gene with protein product		604742	doublecortin and CaM kinase-like 1	DCAMKL1	NA	9747029, 10036192	Standard	NM_004734	NM_004734	NA	Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000255448.4:c.1452C>T	13.37:g.36396968G>A		NA	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	37	CCDS9354.1																																																																																			DCLK1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044483.1		-	ENST00000255448.4	Silent	SNP	13 : 36396968 - 36396968 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	517	87
TAF3	83860	broad.mit.edu	37	10	8006790	8006790	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:8006790C>T	ENST00000344293.5	+	3	1523	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	439					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CTTCCACTTCCGCGAACAATT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	80	80			NA	NA	10		NA											NA				8006790		1911	4128	6039	SO:0001819	synonymous_variant			AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632	83860	83860		Zinc fingers, PHD-type	17303	protein-coding gene	gene with protein product		606576	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD		NA	11438666, 18549481	Standard	NM_031923	NM_031923	NA	Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.1317C>T	10.37:g.8006790C>T		NA	Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	37	CCDS41487.1																																																																																			TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046725.1		+	ENST00000344293.5	Silent	SNP	10 : 8006790 - 8006790 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	636	100
ZNF345	25850	broad.mit.edu	37	19	37368427	37368427	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37368427G>A	ENST00000529555.1	+	2	1483	c.695G>A	c.(694-696)tGc>tAc	p.C232Y	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.C232Y|ZNF345_ENST00000589046.1_Missense_Mutation_p.C232Y|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	232					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTTATGAATGCAAAGCATGT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	75	76			NA	NA	19		NA											NA				37368427		2203	4300	6503	SO:0001583	missense			X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247	25850	25850		Zinc fingers, C2H2-type	16367	protein-coding gene	gene with protein product					NA	7865130	Standard		NM_003419	NA	Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.695G>A	19.37:g.37368427G>A	ENSP00000431202:p.Cys232Tyr	NA		37	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.599527	0.66332	.	.	ENSG00000251247	ENST00000420450;ENST00000529555	D;D	0.85088	-1.94;-1.94	4.14	4.14	0.48551	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93167	0.7824	M	0.89601	3.045	0.39967	D	0.974745	D	0.89917	1.0	D	0.97110	1.0	D	0.94805	0.7974	9	0.72032	D	0.01	.	14.2701	0.66147	0.0:0.0:1.0:0.0	.	232	Q14585	ZN345_HUMAN	Y	232	ENSP00000431216:C232Y;ENSP00000431202:C232Y	ENSP00000431216:C232Y	C	+	2	0	ZNF345	42060267	1.000000	0.71417	0.769000	0.31535	0.925000	0.55904	6.633000	0.74286	2.280000	0.76307	0.561000	0.74099	TGC	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388258.1		+	ENST00000529555.1	Missense_Mutation	SNP	19 : 37368427 - 37368427 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	378	61
NISCH	11188	broad.mit.edu	37	3	52526255	52526255	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52526255G>A	ENST00000479054.1	+	22	4344	c.4272G>A	c.(4270-4272)caG>caA	p.Q1424Q	NISCH_ENST00000345716.4_Silent_p.Q1424Q			Q9Y2I1	NISCH_HUMAN	nischarin	1424					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		TGGGCTACCAGACCTACCCGC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	109	110			NA	NA	3		NA											NA				52526255		2203	4298	6501	SO:0001819	synonymous_variant			AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322	11188	11188			18006	protein-coding gene	gene with protein product	imidazoline receptor candidate, I-1 receptor candidate protein, imidazoline receptor antisera selected	615507			NA	11912194, 10882231	Standard	NM_007184	NM_007184	NA	Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.4272G>A	3.37:g.52526255G>A		NA	C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	37	CCDS33767.1																																																																																			NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351357.1		+	ENST00000479054.1	Silent	SNP	3 : 52526255 - 52526255 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	991	247
TMEM57	55219	broad.mit.edu	37	1	25818054	25818054	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25818054C>T	ENST00000374343.4	+	10	1950	c.1771C>T	c.(1771-1773)Cgg>Tgg	p.R591W	TMEM57_ENST00000399763.3_Missense_Mutation_p.R233W|TMEM57_ENST00000399766.3_Missense_Mutation_p.R364W	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	591						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		p.R591W(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		CGATGCAAAGCGGCAGCTCGA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											78	64	69			NA	NA	1		NA											NA				25818054		2203	4300	6503	SO:0001583	missense			AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178	55219	55219			25572	protein-coding gene	gene with protein product		610301			NA	12459264, 15255972	Standard	NM_018202	XM_005245931	NA	Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.1771C>T	1.37:g.25818054C>T	ENSP00000363463:p.Arg591Trp	NA	B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	37	CCDS30638.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751209	0.69533	.	.	ENSG00000204178	ENST00000399766;ENST00000399763;ENST00000374343	D;D;D	0.84298	-1.83;-1.83;-1.83	5.62	3.71	0.42584	.	0.000000	0.85682	D	0.000000	D	0.92202	0.7527	M	0.82716	2.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.92567	0.6063	10	0.87932	D	0	-10.8737	13.7887	0.63126	0.5177:0.4823:0.0:0.0	.	233;364;591	Q8N5G2-2;Q8N5G2-3;Q8N5G2	.;.;MACOI_HUMAN	W	364;233;591	ENSP00000382668:R364W;ENSP00000382666:R233W;ENSP00000363463:R591W	ENSP00000363463:R591W	R	+	1	2	TMEM57	25690641	1.000000	0.71417	0.998000	0.56505	0.898000	0.52572	2.343000	0.44001	0.694000	0.31654	-0.309000	0.09137	CGG	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000009659.2		+	ENST00000374343.4	Missense_Mutation	SNP	1 : 25818054 - 25818054 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	237	17
DST	667	broad.mit.edu	37	6	56500405	56500405	+	Silent	SNP	G	G	A	rs147124522		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56500405G>A	ENST00000361203.3	-	20	2542	c.2535C>T	c.(2533-2535)gaC>gaT	p.D845D	DST_ENST00000370765.6_Silent_p.D519D|DST_ENST00000446842.2_Silent_p.D519D|DST_ENST00000244364.6_Silent_p.D519D|DST_ENST00000370769.4_Silent_p.D845D|DST_ENST00000370754.5_Silent_p.D1023D|DST_ENST00000518935.1_Silent_p.D519D|DST_ENST00000421834.2_Silent_p.D845D|DST_ENST00000312431.6_Silent_p.D845D|DST_ENST00000370788.2_Silent_p.D845D			Q03001	DYST_HUMAN	dystonin	845					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCTGAACAAGGTCTTCTAGCT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	113	117			NA	NA	6		NA											NA				56500405		2203	4300	6503	SO:0001819	synonymous_variant			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914	667	667		EF-hand domain containing	1090	protein-coding gene	gene with protein product		113810	bullous pemphigoid antigen 1, 230/240kDa	BPAG1	NA	2461961, 2276744	Standard	NM_001723	NM_001144770	NA	Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.2535C>T	6.37:g.56500405G>A		NA	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	37																																																																																				DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000041021.3		-	ENST00000361203.3	Silent	SNP	6 : 56500405 - 56500405 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	181	32
CIC	23152	broad.mit.edu	37	19	42799146	42799146	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42799146G>A	ENST00000572681.2	+	21	7416	c.7348G>A	c.(7348-7350)Gct>Act	p.A2450T	CIC_ENST00000575354.2_Missense_Mutation_p.A1544T|CIC_ENST00000160740.3_Missense_Mutation_p.A1542T			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1544					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				cactggcaccgctgctgcccc	0.726		NA	Mis, F, S		oligodendroglioma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		19	19q13.2	23152	capicua homolog		O	0													9	11	11			NA	NA	19		NA											NA				42799146		2176	4261	6437	SO:0001583	missense			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432	23152	23152			14214	protein-coding gene	gene with protein product		612082	capicua (Drosophila) homolog, capicua homolog (Drosophila)		NA	12393275, 15981098	Standard		NM_015125	NA	Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000572681.2:c.7348G>A	19.37:g.42799146G>A	ENSP00000459719:p.Ala2450Thr	NA	Q7LGI1|Q9UEG5|Q9Y6T1	37		.	.	.	.	.	.	.	.	.	.	G	12.18	1.862015	0.32884	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.25	2.12	0.27331	.	.	.	.	.	T	0.17152	0.0412	N	0.08118	0	0.19300	N	0.99998	B	0.12630	0.006	B	0.04013	0.001	T	0.18777	-1.0326	8	0.87932	D	0	-2.1472	3.5746	0.07930	0.2114:0.0:0.5901:0.1984	.	1544	Q96RK0	CIC_HUMAN	T	1544	.	ENSP00000160740:A1544T	A	+	1	0	CIC	47490986	0.046000	0.20272	0.524000	0.27887	0.942000	0.58702	0.040000	0.13905	0.554000	0.29061	0.561000	0.74099	GCT	CIC-002	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000438528.3		+	ENST00000572681.2	Missense_Mutation	SNP	19 : 42799146 - 42799146 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	121	35
MTUS1	57509	broad.mit.edu	37	8	17612546	17612546	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17612546A>G	ENST00000262102.6	-	2	995	c.771T>C	c.(769-771)gtT>gtC	p.V257V	MTUS1_ENST00000381862.3_Silent_p.V257V|MTUS1_ENST00000519263.1_Silent_p.V257V|MTUS1_ENST00000381869.3_Silent_p.V257V	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	257						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CAATATCTGAAACAAAAACCT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													193	174	180			NA	NA	8		NA											NA				17612546		1943	4147	6090	SO:0001819	synonymous_variant			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422	57509	57509			29789	protein-coding gene	gene with protein product	AT2 receptor-interacting protein, AT2R binding protein, mitochondrial tumor suppressor gene 1	609589	mitochondrial tumor suppressor 1		NA	10574462, 12692079	Standard	XM_372031	NM_001001931	NA	Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.771T>C	8.37:g.17612546A>G		NA	A8K135|B2RBJ6|B3KWJ9|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	37	CCDS43717.1																																																																																			MTUS1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375247.1		-	ENST00000262102.6	Silent	SNP	8 : 17612546 - 17612546 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	793	134
DSC3	1825	broad.mit.edu	37	18	28605830	28605830	+	Missense_Mutation	SNP	G	G	A	rs137869359		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28605830G>A	ENST00000360428.4	-	5	606	c.526C>T	c.(526-528)Cgt>Tgt	p.R176C	DSC3_ENST00000434452.1_Missense_Mutation_p.R176C	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	176	Cadherin 1.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TCAACTCCACGTCCACTTATT	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/ARG,CYS/ARG	3,4401	6.2+/-15.9	0,3,2199	55	56	56		526,526	4.9	1	18	dbSNP_134	56	0,8600		0,0,4300	yes	missense,missense	DSC3	NM_001941.3,NM_024423.2	180,180	0,3,6499	AA,AG,GG	NA	0.0,0.0681,0.0231	probably-damaging,probably-damaging	176/897,176/840	28605830	3,13001	2202	4300	6502	SO:0001583	missense			X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762	1825	1825		Cadherins / Major cadherins	3037	protein-coding gene	gene with protein product		600271		DSC4	NA	7774948, 8486729	Standard	NM_001941, NM_024423	NM_001941	NA	Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.526C>T	18.37:g.28605830G>A	ENSP00000353608:p.Arg176Cys	NA	A6NN35|Q14200|Q9HAZ9	37	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290692	0.80914	6.81E-4	0.0	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.61274	0.12;0.12	4.94	4.94	0.65067	Cadherin (4);Cadherin-like (1);	0.000000	0.33382	N	0.004974	T	0.63177	0.2489	L	0.27053	0.805	0.52099	D	0.999944	D;D	0.71674	0.997;0.998	P;P	0.61658	0.892;0.827	T	0.67473	-0.5662	10	0.87932	D	0	.	17.4558	0.87607	0.0:0.0:1.0:0.0	.	176;176	Q14574;Q14574-2	DSC3_HUMAN;.	C	176	ENSP00000353608:R176C;ENSP00000392068:R176C	ENSP00000353608:R176C	R	-	1	0	DSC3	26859828	1.000000	0.71417	0.976000	0.42696	0.819000	0.46315	5.544000	0.67231	2.706000	0.92434	0.655000	0.94253	CGT	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447384.1		-	ENST00000360428.4	Missense_Mutation	SNP	18 : 28605830 - 28605830 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	176	29
CDH20	28316	broad.mit.edu	37	18	59221564	59221564	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:59221564C>T	ENST00000262717.4	+	12	2440	c.2042C>T	c.(2041-2043)gCg>gTg	p.A681V	CDH20_ENST00000538374.1_Missense_Mutation_p.A681V|CDH20_ENST00000536675.2_Missense_Mutation_p.A681V			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	681					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TTCGACATCGCGGCCATGTGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	74	72			NA	NA	18		NA											NA				59221564		2203	4300	6503	SO:0001583	missense			AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542	28316	28316		Cadherins / Major cadherins	1760	protein-coding gene	gene with protein product		605807			NA	10995570	Standard	NM_031891	NM_031891	NA	Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.2042C>T	18.37:g.59221564C>T	ENSP00000262717:p.Ala681Val	NA	Q495S3	37	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.085932	0.55861	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.76186	-1.0;-1.0;-1.0	5.78	5.78	0.91487	Cadherin, cytoplasmic domain (1);	0.049067	0.85682	D	0.000000	T	0.69646	0.3134	L	0.39245	1.2	0.58432	D	0.999999	B	0.28291	0.206	B	0.27380	0.079	T	0.64188	-0.6466	10	0.36615	T	0.2	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	681	Q9HBT6	CAD20_HUMAN	V	681	ENSP00000444767:A681V;ENSP00000442226:A681V;ENSP00000262717:A681V	ENSP00000262717:A681V	A	+	2	0	CDH20	57372544	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	4.877000	0.63086	2.894000	0.99253	0.655000	0.94253	GCG	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256141.2		+	ENST00000262717.4	Missense_Mutation	SNP	18 : 59221564 - 59221564 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	891	157
SCN1A	6323	broad.mit.edu	37	2	166848892	166848892	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166848892G>T	ENST00000409050.1	-	26	4808	c.4809C>A	c.(4807-4809)tcC>tcA	p.S1603S	SCN1A_ENST00000423058.2_Silent_p.S1631S|SCN1A_ENST00000303395.4_Silent_p.S1631S|SCN1A_ENST00000375405.3_Silent_p.S1620S|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1631						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ACAGGGTAGGGGACACGAAAT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	99	100			NA	NA	2		NA											NA				166848892		2203	4300	6503	SO:0001819	synonymous_variant			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285	6323	6323		Sodium channels, Voltage-gated ion channels / Sodium channels	10585	protein-coding gene	gene with protein product		182389	febrile convulsions 3	SCN1, FEB3	NA	8062593, 16382098, 11823106	Standard	NM_006920	NM_006920	NA	Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000409050.1:c.4809C>A	2.37:g.166848892G>T		NA	Q16172|Q585T7|Q96LA3|Q9C008	37	CCDS54414.1																																																																																			SCN1A-003	NOVEL	non_canonical_U12|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333750.1		-	ENST00000409050.1	Silent	SNP	2 : 166848892 - 166848892 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	591	85
GSAP	54103	broad.mit.edu	37	7	76943748	76943748	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:76943748C>T	ENST00000257626.7	-	27	2226	c.2148G>A	c.(2146-2148)ctG>ctA	p.L716L	GSAP_ENST00000441833.2_Silent_p.L37L|GSAP_ENST00000440473.1_5'UTR	NM_017439.3	NP_059135.2			gamma-secretase activating protein	NA											NA						CAATGCAATGCAGCAGGTTAT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	112	112			NA	NA	7		NA											NA				76943748		2027	4180	6207	SO:0001819	synonymous_variant				CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088	54103	54103			28042	protein-coding gene	gene with protein product		613552	pigeon homolog (Drosophila)	PION	NA	20811458	Standard	NM_017439	NM_017439	NA	Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.2148G>A	7.37:g.76943748C>T		NA		37	CCDS34672.2																																																																																			GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318672.2		-	ENST00000257626.7	Silent	SNP	7 : 76943748 - 76943748 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	343	61
SPARCL1	8404	broad.mit.edu	37	4	88400699	88400699	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88400699G>A	ENST00000503414.1	-	11	2016	c.1474C>T	c.(1474-1476)Cga>Tga	p.R492*	SPARCL1_ENST00000282470.6_Nonsense_Mutation_p.R617*|SPARCL1_ENST00000418378.1_Nonsense_Mutation_p.R617*			Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	617	Kazal-like.				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		AGAGATGCTCGCAGAGGAGCA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	102	105			NA	NA	4		NA											NA				88400699		2203	4300	6503	SO:0001587	stop_gained			X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583	8404	8404		EF-hand domain containing	11220	protein-coding gene	gene with protein product		606041	SPARC-like 1 (mast9, hevin)		NA	8488563, 7600298, 16844696	Standard		NM_001128310	NA	Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000503414.1:c.1474C>T	4.37:g.88400699G>A	ENSP00000422903:p.Arg492*	NA	Q14800	37		.	.	.	.	.	.	.	.	.	.	G	42	9.575148	0.99208	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	.	.	.	5.11	3.16	0.36331	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.0128	12.4782	0.55827	0.0:0.0:0.5959:0.4041	.	.	.	.	X	617;617;492;492	.	ENSP00000282470:R617X	R	-	1	2	SPARCL1	88619723	0.809000	0.29036	1.000000	0.80357	0.973000	0.67179	1.043000	0.30316	1.417000	0.47077	0.655000	0.94253	CGA	SPARCL1-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000363611.2		-	ENST00000503414.1	Nonsense_Mutation	SNP	4 : 88400699 - 88400699 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	437	86
ACCSL	390110	broad.mit.edu	37	11	44069708	44069708	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44069708C>T	ENST00000378832.1	+	1	178	c.122C>T	c.(121-123)aCg>aTg	p.T41M		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	41							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CAGGCCATGACGGAGCACTTC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	MET/THR	1,4197		0,1,2098	48	54	52		122	-1.2	0	11		52	1,8441		0,1,4220	no	missense	ACCSL	NM_001031854.2	81	0,2,6318	TT,TC,CC	NA	0.0118,0.0238,0.0158	benign	41/569	44069708	2,12638	2099	4221	6320	SO:0001583	missense				CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126	390110	390110			34391	protein-coding gene	gene with protein product					NA		Standard	NM_001031854	NM_001031854	NA	Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.122C>T	11.37:g.44069708C>T	ENSP00000368109:p.Thr41Met	NA		37	CCDS41636.1	.	.	.	.	.	.	.	.	.	.	C	7.405	0.633456	0.14322	2.38E-4	1.18E-4	ENSG00000205126	ENST00000378832	T	0.68331	-0.32	4.08	-1.16	0.09678	.	2.565330	0.01198	N	0.007510	T	0.39809	0.1092	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.20174	-1.0283	10	0.41790	T	0.15	3.8656	0.992	0.01459	0.4968:0.1605:0.1907:0.152	.	41	Q4AC99	1A1L2_HUMAN	M	41	ENSP00000368109:T41M	ENSP00000368109:T41M	T	+	2	0	ACCSL	44026284	0.043000	0.20138	0.000000	0.03702	0.000000	0.00434	0.209000	0.17435	-0.323000	0.08602	-1.127000	0.01993	ACG	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389717.1		+	ENST00000378832.1	Missense_Mutation	SNP	11 : 44069708 - 44069708 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	467	92
CADPS	8618	broad.mit.edu	37	3	62631410	62631410	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:62631410C>T	ENST00000383710.4	-	6	1661	c.1312G>A	c.(1312-1314)Gct>Act	p.A438T	CADPS_ENST00000490353.2_Missense_Mutation_p.A438T|CADPS_ENST00000283269.9_Missense_Mutation_p.A438T|CADPS_ENST00000357948.3_Missense_Mutation_p.A438T	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	438	C2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GGTTTAGAAGCCTCGGCCTGA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													213	201	205			NA	NA	3		NA											NA				62631410		2203	4300	6503	SO:0001583	missense			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618	8618	8618		Pleckstrin homology (PH) domain containing	1426	protein-coding gene	gene with protein product		604667			NA	1516133	Standard	NM_003716, NM_183393, NM_183394	NM_183393	NA	Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1312G>A	3.37:g.62631410C>T	ENSP00000373215:p.Ala438Thr	NA	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	37	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910819	0.92178	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.06	5.44	5.44	0.79542	C2 calcium-dependent membrane targeting (1);	0.000000	0.85682	D	0.000000	D	0.85075	0.5614	M	0.78801	2.425	0.80722	D	1	D;D;P	0.67145	0.99;0.996;0.877	D;D;B	0.76071	0.94;0.987;0.398	D	0.85985	0.1485	10	0.66056	D	0.02	.	19.6287	0.95691	0.0:1.0:0.0:0.0	.	438;438;438	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	T	438	ENSP00000373215:A438T;ENSP00000350632:A438T;ENSP00000283269:A438T;ENSP00000418736:A438T	ENSP00000283269:A438T	A	-	1	0	CADPS	62606450	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.818000	0.86416	2.710000	0.92621	0.655000	0.94253	GCT	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351951.5		-	ENST00000383710.4	Missense_Mutation	SNP	3 : 62631410 - 62631410 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	808	144
SMG1	23049	broad.mit.edu	37	16	18849783	18849783	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:18849783T>G	ENST00000446231.2	-	44	7502	c.7090A>C	c.(7090-7092)Agc>Cgc	p.S2364R	SMG1_ENST00000389467.3_Missense_Mutation_p.S2364R			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2364	PI3K/PI4K.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ACTCTAAGGCTTTTACCTTGA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													170	151	157			NA	NA	16		NA											NA				18849783		1827	4089	5916	SO:0001583	missense			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106	23049	23049			30045	protein-coding gene	gene with protein product	phosphatidylinositol 3-kinase-related kinase	607032	smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)		NA	9455477, 11331269, 17229728	Standard	NM_015092	NM_015092	NA	Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.7090A>C	16.37:g.18849783T>G	ENSP00000402515:p.Ser2364Arg	NA	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	37	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.078884	0.76528	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.74632	-0.86;-0.86	5.87	5.87	0.94306	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	T	0.69324	0.3098	N	0.02842	-0.48	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.71248	-0.4649	10	0.17369	T	0.5	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	2364	Q96Q15	SMG1_HUMAN	R	2364	ENSP00000402515:S2364R;ENSP00000374118:S2364R	ENSP00000374118:S2364R	S	-	1	0	SMG1	18757284	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.970000	0.88000	2.371000	0.80710	0.533000	0.62120	AGC	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391817.1		-	ENST00000446231.2	Missense_Mutation	SNP	16 : 18849783 - 18849783 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	372	78
GNE	10020	broad.mit.edu	37	9	36229026	36229026	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36229026C>T	ENST00000539208.1	-	4	869	c.732G>A	c.(730-732)caG>caA	p.Q244Q	GNE_ENST00000543356.2_Silent_p.Q349Q|GNE_ENST00000377902.5_Silent_p.Q354Q|GNE_ENST00000539815.1_Silent_p.Q354Q|GNE_ENST00000396594.3_Silent_p.Q385Q|GNE_ENST00000447283.2_Silent_p.Q354Q	NM_001190384.1	NP_001177313.1	Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	354					cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			ACCAAGGGTACTGTTTACCAA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(184;106 2118 20004 35750 50727)							NA				0													179	178	178			NA	NA	9		NA											NA				36229026		2203	4300	6503	SO:0001819	synonymous_variant			AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921	10020	10020			23657	protein-coding gene	gene with protein product		603824	UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase	IBM2	NA	9305887, 9305888	Standard	NM_005476	NM_005476	NA	Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539208.1:c.732G>A	9.37:g.36229026C>T		NA	A6PZH2|A6PZH3|B2R6E1|D3DRP7|Q0VA94	37	CCDS55308.1																																																																																			GNE-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052413.2		-	ENST00000539208.1	Silent	SNP	9 : 36229026 - 36229026 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	641	110
MTR	4548	broad.mit.edu	37	1	237054561	237054561	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237054561C>T	ENST00000366577.5	+	29	3530	c.3136C>T	c.(3136-3138)Ctg>Ttg	p.L1046L	MTR_ENST00000535889.1_Silent_p.L995L	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1046	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CGACATTCACCTGTACGCAGA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	117	117			NA	NA	1		NA											NA				237054561		2203	4300	6503	SO:0001819	synonymous_variant			U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	4548	4548	2.1.1.13		7468	protein-coding gene	gene with protein product		156570			NA	8968735	Standard	NM_000254	NM_000254	NA	Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.3136C>T	1.37:g.237054561C>T		NA	A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	37	CCDS1614.1																																																																																			MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096632.2		+	ENST00000366577.5	Silent	SNP	1 : 237054561 - 237054561 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	912	206
CCDC112	153733	broad.mit.edu	37	5	114615393	114615393	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114615393A>G	ENST00000506442.1	-	3	461	c.63T>C	c.(61-63)agT>agC	p.S21S	CCDC112_ENST00000512261.1_Silent_p.S21S|CCDC112_ENST00000503027.1_5'UTR|CCDC112_ENST00000395557.4_Silent_p.S21S|CCDC112_ENST00000379611.5_Silent_p.S104S			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	21										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		CTTCTAGCATACTATGCTCAA	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	114	118			NA	NA	5		NA											NA				114615393		2202	4298	6500	SO:0001819	synonymous_variant			BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221	153733	153733			28599	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152549	NM_001040440	NA	Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000506442.1:c.63T>C	5.37:g.114615393A>G		NA	Q6A334	37																																																																																				CCDC112-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000371000.1		-	ENST00000506442.1	Silent	SNP	5 : 114615393 - 114615393 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	175	31
GABRG1	2565	broad.mit.edu	37	4	46060235	46060235	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46060235C>T	ENST00000295452.4	-	7	1082	c.915G>A	c.(913-915)ttG>ttA	p.L305L		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	305					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		ATGTCATACCCAACGATGTTC	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	79	79			NA	NA	4		NA											NA				46060235		2203	4300	6503	SO:0001630	splice_region_variant			BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285	2565	2565		GABA receptors, Ligand-gated ion channels / GABA(A) receptors	4086	protein-coding gene	gene with protein product	GABA(A) receptor, gamma	137166			NA	1321425	Standard	NM_173536	NM_173536	NA	Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.916+1G>A	4.37:g.46060235C>T		NA	Q5H9T8	37	CCDS3470.1																																																																																			GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250470.1	Silent	-	ENST00000295452.4	Splice_Site	SNP	4 : 46060235 - 46060235 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	52
NLRP14	338323	broad.mit.edu	37	11	7063707	7063707	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7063707C>T	ENST00000299481.4	+	4	796	c.450C>T	c.(448-450)ttC>ttT	p.F150F		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	150					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CTGAAGATTTCCATCATGGAA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	78	75			NA	NA	11		NA											NA				7063707		2201	4296	6497	SO:0001819	synonymous_variant			BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077	338323	338323		Nucleotide-binding domain and leucine rich repeat containing	22939	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14	609665	NACHT, leucine rich repeat and PYD containing 14	NALP14	NA	12563287	Standard	NM_176822	NM_176822	NA	Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.450C>T	11.37:g.7063707C>T		NA	Q7RTR6	37	CCDS7776.1																																																																																			NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384551.1		+	ENST00000299481.4	Silent	SNP	11 : 7063707 - 7063707 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	475	97
SYN3	8224	broad.mit.edu	37	22	32992713	32992713	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32992713G>A	ENST00000358763.2	-	7	963	c.721C>T	c.(721-723)Cca>Tca	p.P241S	SYN3_ENST00000332840.5_Missense_Mutation_p.P241S	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	241	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GGGAAGTGTGGGGCTGTGACC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	109	120			NA	NA	22		NA											NA				32992713		2203	4300	6503	SO:0001583	missense			AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666	8224	8224			11496	protein-coding gene	gene with protein product		602705			NA	9539796	Standard		NM_003490	NA	Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.721C>T	22.37:g.32992713G>A	ENSP00000351614:p.Pro241Ser	NA		37	CCDS13908.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303253	0.40795	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000390686	T;T	0.32272	1.46;1.46	5.05	5.05	0.67936	ATP-grasp fold, subdomain 1 (1);Synapsin, ATP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.48132	0.1483	L	0.55990	1.75	0.45366	D	0.998351	D;D;D	0.59357	0.985;0.985;0.985	D;D;D	0.70487	0.969;0.969;0.969	T	0.29397	-1.0013	10	0.30854	T	0.27	.	13.9058	0.63834	0.0:0.0:1.0:0.0	.	240;241;241	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	S	241	ENSP00000351614:P241S;ENSP00000330219:P241S	ENSP00000330219:P241S	P	-	1	0	SYN3	31322713	1.000000	0.71417	0.999000	0.59377	0.730000	0.41778	2.611000	0.46334	2.340000	0.79590	0.655000	0.94253	CCA	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075892.4		-	ENST00000358763.2	Missense_Mutation	SNP	22 : 32992713 - 32992713 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	249	41
C15orf41	84529	broad.mit.edu	37	15	36984338	36984338	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:36984338C>T	ENST00000569302.1	+	7	451	c.438C>T	c.(436-438)aaC>aaT	p.N146N	C15orf41_ENST00000566621.1_Silent_p.N146N|C15orf41_ENST00000567389.1_Silent_p.N48N|C15orf41_ENST00000437989.2_Silent_p.N146N|C15orf41_ENST00000562877.1_Silent_p.N48N|C15orf41_ENST00000338183.4_Silent_p.N48N			Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	146							protein binding			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		GCATTGTGAACGACTGCTGTT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	87	90			NA	NA	15		NA											NA				36984338		1861	4091	5952	SO:0001819	synonymous_variant			BC006254	CCDS45215.1, CCDS45216.1	15q14	2012-05-31			ENSG00000186073	ENSG00000186073	84529	84529			26929	protein-coding gene	gene with protein product		615626			NA		Standard	NM_032499	XM_005254719	NA	Approved	HH114, MGC11326, FLJ22851	uc001zje.4	Q9Y2V0	OTTHUMG00000172659	ENST00000569302.1:c.438C>T	15.37:g.36984338C>T		NA	B2RD87	37																																																																																				C15orf41-008	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000419746.1		+	ENST00000569302.1	Silent	SNP	15 : 36984338 - 36984338 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	174	29
ADD3	120	broad.mit.edu	37	10	111877175	111877175	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:111877175A>G	ENST00000277900.8	+	5	927	c.562A>G	c.(562-564)Aat>Gat	p.N188D	ADD3_ENST00000497125.1_3'UTR|ADD3_ENST00000356080.4_Missense_Mutation_p.N188D|ADD3_ENST00000360162.3_Missense_Mutation_p.N188D	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	188						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		TACAGCCTCCAATTTGGTATA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	75	76			NA	NA	10		NA											NA				111877175		2203	4300	6503	SO:0001583	missense			U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700	120	120			245	protein-coding gene	gene with protein product		601568		ADDL	NA	8893809	Standard	NM_019903	XM_005269529	NA	Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000277900.8:c.562A>G	10.37:g.111877175A>G	ENSP00000277900:p.Asn188Asp	NA	D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	37	CCDS7562.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.748606	0.89753	.	.	ENSG00000148700	ENST00000360162;ENST00000356080;ENST00000277900	T;T;T	0.15603	2.41;2.41;2.41	5.8	4.65	0.58169	Class II aldolase/adducin, N-terminal (3);	0.168597	0.64402	D	0.000006	T	0.22437	0.0541	L	0.33668	1.02	0.42578	D	0.993209	P;P	0.36712	0.466;0.566	P;B	0.47864	0.559;0.423	T	0.02917	-1.1094	10	0.87932	D	0	-7.4886	12.0599	0.53557	0.9321:0.0:0.0679:0.0	.	188;188	Q9UEY8;Q9UEY8-2	ADDG_HUMAN;.	D	188	ENSP00000353286:N188D;ENSP00000348381:N188D;ENSP00000277900:N188D	ENSP00000277900:N188D	N	+	1	0	ADD3	111867165	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	7.268000	0.78473	0.982000	0.38575	0.533000	0.62120	AAT	ADD3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050290.1		+	ENST00000277900.8	Missense_Mutation	SNP	10 : 111877175 - 111877175 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	244	46
REG1A	5967	broad.mit.edu	37	2	79348758	79348758	+	Silent	SNP	C	C	A	rs11557479		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:79348758C>A	ENST00000233735.1	+	3	238	c.135C>A	c.(133-135)tcC>tcA	p.S45S		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	45	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CCTATCGCTCCTACTGCTACT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	172	173			NA	NA	2		NA											NA				79348758		2203	4300	6503	SO:0001819	synonymous_variant				CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386	5967	5967			9951	protein-coding gene	gene with protein product	pancreatic stone protein, pancreatic thread protein	167770	regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)	REG	NA	2332435, 8333731	Standard	NM_002909	NM_002909	NA	Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.135C>A	2.37:g.79348758C>A		NA	P11379	37	CCDS1964.1																																																																																			REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252289.1		+	ENST00000233735.1	Silent	SNP	2 : 79348758 - 79348758 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1277	33
AARS	16	broad.mit.edu	37	16	70286690	70286690	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70286690G>A	ENST00000261772.8	-	21	2984	c.2841C>T	c.(2839-2841)tgC>tgT	p.C947C		NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	947					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	CCTCCTGCAGGCAGCCAACGT	0.607		NA									OREG0023912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	97	99			NA	NA	16		NA											NA				70286690		2198	4300	6498	SO:0001819	synonymous_variant			D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	16	16	6.1.1.7	Aminoacyl tRNA synthetases / Class II	20	protein-coding gene	gene with protein product	alanine tRNA ligase 1, cytoplasmic	601065			NA	8595897	Standard	NM_001605	NM_001605	NA	Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.2841C>T	16.37:g.70286690G>A		1121	A6NF14|Q53GV7|Q96FA0	37	CCDS32474.1																																																																																			AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000435021.2		-	ENST00000261772.8	Silent	SNP	16 : 70286690 - 70286690 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	614	24
GLI1	2735	broad.mit.edu	37	12	57864506	57864506	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57864506C>A	ENST00000228682.2	+	12	2074	c.1983C>A	c.(1981-1983)ggC>ggA	p.G661G	GLI1_ENST00000543426.1_Silent_p.G533G|GLI1_ENST00000546141.1_Silent_p.G620G	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	661					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			AGAGCCTGGGCTGTGTCCATA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(157;841 1936 10503 41495 50368)							NA				0													34	35	35			NA	NA	12		NA											NA				57864506		2203	4300	6503	SO:0001819	synonymous_variant				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087	2735	2735		Zinc fingers, C2H2-type	4317	protein-coding gene	gene with protein product		165220	glioma-associated oncogene homolog 1 (zinc finger protein), glioma-associated oncogene family zinc finger 1	GLI	NA	2850480	Standard	NM_005269	NM_005269	NA	Approved		uc001snx.3	P08151		ENST00000228682.2:c.1983C>A	12.37:g.57864506C>A		NA	Q8TDN9	37	CCDS8940.1																																																																																			GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394197.1		+	ENST00000228682.2	Silent	SNP	12 : 57864506 - 57864506 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	200	42
PVRL1	5818	broad.mit.edu	37	11	119535964	119535964	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119535964G>A	ENST00000264025.3	-	6	1577	c.1047C>T	c.(1045-1047)gcC>gcT	p.A349A	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	349					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GCACCGGCCCGGCGCGCCGCC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	0,4394		0,0,2197	24	28	26		1047,	-8.6	0.5	11		26	1,8583		0,1,4291	no	coding-synonymous,intron	PVRL1	NM_002855.4,NM_203285.1	,	0,1,6488	AA,AG,GG	NA	0.0116,0.0,0.0077	,	349/518,	119535964	1,12977	2197	4292	6489	SO:0001819	synonymous_variant			X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400	5818	5818		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	9706	protein-coding gene	gene with protein product	nectin	600644		HVEC, ED4	NA	7721102, 9616127	Standard		NM_203285	NA	Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1047C>T	11.37:g.119535964G>A		NA	O75465|Q2M3D3|Q9HBE6|Q9HBW2	37	CCDS8426.1																																																																																			PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388231.1		-	ENST00000264025.3	Silent	SNP	11 : 119535964 - 119535964 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	291	55
TMCC1	23023	broad.mit.edu	37	3	129370342	129370342	+	Missense_Mutation	SNP	G	G	T	rs114782689	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129370342G>T	ENST00000432054.2	-	4	1923	c.972C>A	c.(970-972)ttC>ttA	p.F324L	TMCC1_ENST00000329333.5_Missense_Mutation_p.F469L|TMCC1_ENST00000393238.3_Missense_Mutation_p.F648L|TMCC1_ENST00000426664.2_Missense_Mutation_p.F534L			O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	648						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GGGATGAAAAGAACCGTTCCA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	134	134			NA	NA	3		NA											NA				129370342		2203	4300	6503	SO:0001583	missense			AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765	23023	23023		Transmembrane and coiled-coil domain containing	29116	protein-coding gene	gene with protein product			transmembrane and coiled-coil domains 1		NA	9872452	Standard	NM_015008	NR_033361	NA	Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000432054.2:c.972C>A	3.37:g.129370342G>T	ENSP00000404711:p.Phe324Leu	NA	Q68E06|Q8IXM8	37		.	.	.	.	.	.	.	.	.	.	G	0.971	-0.700009	0.03279	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.38887	1.11;1.72;1.72;1.13	5.42	4.55	0.56014	.	0.265483	0.43919	N	0.000512	T	0.23171	0.0560	N	0.22421	0.69	0.32374	N	0.555462	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.24657	-1.0154	10	0.02654	T	1	-5.8053	9.3168	0.37939	0.0722:0.0:0.7845:0.1433	.	469;648	B4DE04;O94876	.;TMCC1_HUMAN	L	324;648;534;469	ENSP00000404711:F324L;ENSP00000376930:F648L;ENSP00000389892:F534L;ENSP00000327349:F469L	ENSP00000327349:F469L	F	-	3	2	TMCC1	130853032	1.000000	0.71417	0.995000	0.50966	0.923000	0.55619	1.215000	0.32431	1.521000	0.48983	0.650000	0.86243	TTC	TMCC1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000356323.4		-	ENST00000432054.2	Missense_Mutation	SNP	3 : 129370342 - 129370342 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	669	93
ADAMTS2	9509	broad.mit.edu	37	5	178552119	178552119	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178552119C>T	ENST00000251582.7	-	19	2914	c.2813G>A	c.(2812-2814)cGc>cAc	p.R938H		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	938	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GCGCACGGAGCGCACCTGCAT	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	105	106			NA	NA	5		NA											NA				178552119		2203	4300	6503	SO:0001583	missense			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116	9509	9509		ADAM metallopeptidases with thrombospondin type 1 motif	218	protein-coding gene	gene with protein product	procollagen I N-proteinase, procollagen N-endopeptidase	604539	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2		NA	10094461, 15373769	Standard	NM_014244	NM_014244	NA	Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2813G>A	5.37:g.178552119C>T	ENSP00000251582:p.Arg938His	NA		37	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797898	0.90538	.	.	ENSG00000087116	ENST00000251582	T	0.80824	-1.42	5.42	5.42	0.78866	.	0.000000	0.56097	D	0.000026	D	0.94578	0.8253	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96897	0.9657	10	0.87932	D	0	.	18.2057	0.89853	0.0:1.0:0.0:0.0	.	938	O95450	ATS2_HUMAN	H	938	ENSP00000251582:R938H	ENSP00000251582:R938H	R	-	2	0	ADAMTS2	178484725	1.000000	0.71417	0.941000	0.38009	0.476000	0.33039	7.551000	0.82182	2.538000	0.85594	0.655000	0.94253	CGC	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253507.1		-	ENST00000251582.7	Missense_Mutation	SNP	5 : 178552119 - 178552119 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1272	72
STAB2	55576	broad.mit.edu	37	12	103984787	103984787	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:103984787C>T	ENST00000388887.2	+	2	398	c.194C>T	c.(193-195)tCt>tTt	p.S65F		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	65					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ACCAGTGGCTCTGTAGGGGTT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	124	125			NA	NA	12		NA											NA				103984787		2203	4300	6503	SO:0001583	missense			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011	55576	55576			18629	protein-coding gene	gene with protein product	hyaluronic acid receptor for endocytosis	608561			NA	11829752, 12077138	Standard		XR_429107	NA	Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.194C>T	12.37:g.103984787C>T	ENSP00000373539:p.Ser65Phe	NA	Q6ZMK2|Q7Z5N9|Q86UR4|Q8IUG9|Q8TES1|Q9H7H7|Q9NRY3	37	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111441	0.37242	.	.	ENSG00000136011	ENST00000388887	T	0.35421	1.31	6.02	5.11	0.69529	.	0.622630	0.16100	N	0.229582	T	0.42154	0.1190	L	0.55743	1.74	0.20489	N	0.999894	P	0.39576	0.679	B	0.43623	0.425	T	0.34453	-0.9828	10	0.56958	D	0.05	.	14.3393	0.66614	0.0:0.8517:0.1483:0.0	.	65	Q8WWQ8	STAB2_HUMAN	F	65	ENSP00000373539:S65F	ENSP00000373539:S65F	S	+	2	0	STAB2	102508917	0.029000	0.19370	0.020000	0.16555	0.007000	0.05969	2.230000	0.42999	1.500000	0.48636	0.655000	0.94253	TCT	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407089.1		+	ENST00000388887.2	Missense_Mutation	SNP	12 : 103984787 - 103984787 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	650	150
CEP152	22995	broad.mit.edu	37	15	49064749	49064749	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49064749C>A	ENST00000380950.2	-	13	1904	c.1717G>T	c.(1717-1719)Gac>Tac	p.D573Y	CEP152_ENST00000399334.3_Missense_Mutation_p.D573Y|CEP152_ENST00000325747.5_Missense_Mutation_p.D480Y|CEP152_ENST00000559398.1_5'UTR	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	573					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTATGACAGTCTTTGAGGTCA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	147	152			NA	NA	15		NA											NA				49064749		1878	4119	5997	SO:0001583	missense			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20					22995	22995			29298	protein-coding gene	gene with protein product	asterless	613529	microcephaly, primary autosomal recessive 4	MCPH4	NA	14654843, 21131973	Standard	NM_014985	NM_014985	NA	Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1717G>T	15.37:g.49064749C>A	ENSP00000370337:p.Asp573Tyr	NA	Q17RV1|Q6NTA0	37	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567788	0.86439	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.80653	-1.4;-1.4;-1.4	5.78	2.74	0.32292	.	1.094050	0.06685	N	0.768702	D	0.84906	0.5576	M	0.62723	1.935	0.09310	N	0.999993	D;D;D	0.63880	0.993;0.974;0.988	P;P;P	0.58873	0.847;0.8;0.847	T	0.68387	-0.5422	10	0.72032	D	0.01	-2.1459	5.1919	0.15214	0.1455:0.6256:0.0:0.2288	.	480;573;573	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	Y	573;480;573;573	ENSP00000370337:D573Y;ENSP00000321000:D480Y;ENSP00000382271:D573Y	ENSP00000321000:D480Y	D	-	1	0	CEP152	46852041	0.996000	0.38824	0.389000	0.26208	0.996000	0.88848	0.620000	0.24403	0.919000	0.36945	0.591000	0.81541	GAC	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417365.1		-	ENST00000380950.2	Missense_Mutation	SNP	15 : 49064749 - 49064749 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	553	90
LST3	0	broad.mit.edu	37	12	21200112	21200112	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21200112C>T	ENST00000381541.3	+	8	1161	c.1096C>T	c.(1096-1098)Cag>Tag	p.Q366*	SLCO1B7_ENST00000421593.2_Nonsense_Mutation_p.Q319*|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Nonsense_Mutation_p.Q366*						NA											NA						GGTGGAGCAACAGTATGGTTG	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	119	118			NA	NA	12		NA											NA				21200112		2139	4276	6415	SO:0001587	stop_gained											NA	NA			NA							NA					NA						ENST00000381541.3:c.1096C>T	12.37:g.21200112C>T	ENSP00000370952:p.Gln366*	NA		37		.	.	.	.	.	.	.	.	.	.	.	36	5.733400	0.96865	.	.	ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000381541;ENST00000554957;ENST00000421593	.	.	.	3.21	2.2	0.27929	.	0.587759	0.16949	N	0.192977	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	9.7835	0.40662	0.0:0.7875:0.2125:0.0	.	.	.	.	X	366;366;319	.	ENSP00000370952:Q366X	Q	+	1	0	SLCO1B7;RP11-545J16.1	21091379	0.999000	0.42202	0.083000	0.20561	0.009000	0.06853	2.691000	0.47010	1.769000	0.52152	0.460000	0.39030	CAG	LST3-001	NOVEL	basic|appris_principal|readthrough_transcript	protein_coding	NA	protein_coding	OTTHUMT00000401972.1		+	ENST00000381541.3	Nonsense_Mutation	SNP	12 : 21200112 - 21200112 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	107	16
GLI1	2735	broad.mit.edu	37	12	57859671	57859671	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57859671G>A	ENST00000228682.2	+	7	816	c.725G>A	c.(724-726)tGc>tAc	p.C242Y	GLI1_ENST00000543426.1_Missense_Mutation_p.C114Y|GLI1_ENST00000546141.1_Missense_Mutation_p.C201Y	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	242					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TGGGATGGCTGCAGCCAGGAA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(157;841 1936 10503 41495 50368)							NA				0													64	64	64			NA	NA	12		NA											NA				57859671		2203	4300	6503	SO:0001583	missense				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087	2735	2735		Zinc fingers, C2H2-type	4317	protein-coding gene	gene with protein product		165220	glioma-associated oncogene homolog 1 (zinc finger protein), glioma-associated oncogene family zinc finger 1	GLI	NA	2850480	Standard	NM_005269	NM_005269	NA	Approved		uc001snx.3	P08151		ENST00000228682.2:c.725G>A	12.37:g.57859671G>A	ENSP00000228682:p.Cys242Tyr	NA	Q8TDN9	37	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589314	0.86851	.	.	ENSG00000111087	ENST00000532291;ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	D;D;D;D;D	0.96136	-3.92;-3.92;-3.92;-3.92;-3.92	4.45	4.45	0.53987	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.56097	D	0.000022	D	0.98639	0.9544	H	0.98048	4.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99453	1.0941	10	0.87932	D	0	.	16.3848	0.83501	0.0:0.0:1.0:0.0	.	242	P08151	GLI1_HUMAN	Y	114;114;242;201;201;114	ENSP00000436671:C114Y;ENSP00000437607:C114Y;ENSP00000228682:C242Y;ENSP00000441006:C201Y;ENSP00000434408:C201Y	ENSP00000228682:C242Y	C	+	2	0	GLI1	56145938	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.561000	0.98142	2.478000	0.83669	0.591000	0.81541	TGC	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394197.1		+	ENST00000228682.2	Missense_Mutation	SNP	12 : 57859671 - 57859671 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	381	77
DNAH2	146754	broad.mit.edu	37	17	7735942	7735942	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7735942G>A	ENST00000572933.1	+	83	14232	c.12772G>A	c.(12772-12774)Gcc>Acc	p.A4258T	DNAH2_ENST00000389173.2_Missense_Mutation_p.A4258T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4258					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCGGGACTTGGCCATGCGTGT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	103	101			NA	NA	17		NA											NA				7735942		2203	4300	6503	SO:0001583	missense			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914	146754	146754		Axonemal dyneins	2948	protein-coding gene	gene with protein product		603333	dynein, axonemal, heavy polypeptide 2, dynein heavy chain domain 3	DNHD3	NA	9256245	Standard	NM_020877	XM_005256470	NA	Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.12772G>A	17.37:g.7735942G>A	ENSP00000458355:p.Ala4258Thr	NA	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.697938	0.30142	.	.	ENSG00000183914	ENST00000389173	T	0.08458	3.09	5.41	5.41	0.78517	Dynein heavy chain (1);	0.376486	0.26586	N	0.023552	T	0.07503	0.0189	N	0.16098	0.37	0.80722	D	1	B	0.18310	0.027	B	0.22152	0.038	T	0.34054	-0.9844	10	0.49607	T	0.09	.	17.9726	0.89118	0.0:0.0:1.0:0.0	.	4258	Q9P225	DYH2_HUMAN	T	4258	ENSP00000373825:A4258T	ENSP00000373825:A4258T	A	+	1	0	DNAH2	7676667	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	2.988000	0.49386	2.546000	0.85860	0.591000	0.81541	GCC	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000440241.1		+	ENST00000572933.1	Missense_Mutation	SNP	17 : 7735942 - 7735942 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	825	181
CAMSAP2	23271	broad.mit.edu	37	1	200817351	200817351	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200817351G>A	ENST00000358823.2	+	11	1724	c.1454G>A	c.(1453-1455)aGc>aAc	p.S485N	CAMSAP2_ENST00000236925.4_Missense_Mutation_p.S496N|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.S469N	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	496						cytoplasm|microtubule	protein binding				NA						GAAGCAGAGAGCATTGAAGAA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	99	97			NA	NA	1		NA											NA				200817351		2203	4300	6503	SO:0001583	missense			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200	23271	23271			29188	protein-coding gene	gene with protein product		613775	calmodulin regulated spectrin-associated protein 1-like 1	CAMSAP1L1	NA	15897902, 19508979	Standard	NM_203459	XM_005245040	NA	Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000358823.2:c.1454G>A	1.37:g.200817351G>A	ENSP00000351684:p.Ser485Asn	NA	B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	37	CCDS1404.1	.	.	.	.	.	.	.	.	.	.	G	8.304	0.820587	0.16678	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.14516	2.51;2.5;2.51	5.62	4.72	0.59763	.	0.524501	0.23091	N	0.052034	T	0.07999	0.0200	N	0.14661	0.345	0.27312	N	0.957287	B;B;B	0.23249	0.082;0.0;0.01	B;B;B	0.25140	0.058;0.0;0.022	T	0.32824	-0.9892	10	0.19147	T	0.46	-5.0869	9.3038	0.37863	0.2044:0.0:0.7956:0.0	.	469;496;485	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	N	485;469;496	ENSP00000351684:S485N;ENSP00000416800:S469N;ENSP00000236925:S496N	ENSP00000236925:S496N	S	+	2	0	CAMSAP1L1	199083974	1.000000	0.71417	0.916000	0.36221	0.943000	0.58893	3.003000	0.49505	1.375000	0.46248	0.655000	0.94253	AGC	CAMSAP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087034.2		+	ENST00000358823.2	Missense_Mutation	SNP	1 : 200817351 - 200817351 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	489	21
FAM193B	54540	broad.mit.edu	37	5	176951655	176951655	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176951655G>A	ENST00000514747.1	-	6	1875	c.1827C>T	c.(1825-1827)tcC>tcT	p.S609S	FAM193B_ENST00000329540.5_Silent_p.S235S|FAM193B_ENST00000443375.2_Silent_p.S576S	NM_001190946.1	NP_001177875.1	Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	285										kidney(1)|large_intestine(3)	4						TTGGCTCCTCGGAGCTGGGGT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	27	26			NA	NA	5		NA											NA				176951655		1943	4142	6085	SO:0001819	synonymous_variant				CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067	54540	54540			25524	protein-coding gene	gene with protein product		615813			NA	11572484	Standard	NM_019057	NR_024019	NA	Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.1827C>T	5.37:g.176951655G>A		NA		37	CCDS54954.1	.	.	.	.	.	.	.	.	.	.	G	0.061	-1.224585	0.01530	.	.	ENSG00000146067	ENST00000524677	.	.	.	5.75	-7.75	0.01236	.	.	.	.	.	.	.	.	.	.	.	0.36557	D	0.872203	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.2505	2.8772	0.05635	0.2684:0.154:0.4011:0.1765	.	.	.	.	X	295	.	.	R	-	1	2	FAM193B	176884261	0.000000	0.05858	0.051000	0.19133	0.046000	0.14306	-0.160000	0.10041	-1.158000	0.02811	-0.459000	0.05422	CGA	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373121.1		-	ENST00000514747.1	Silent	SNP	5 : 176951655 - 176951655 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	231	14
TRIM5	85363	broad.mit.edu	37	11	5687305	5687305	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5687305C>A	ENST00000396847.3	-	6	1009	c.774G>T	c.(772-774)gaG>gaT	p.E258D	TRIM5_ENST00000380034.3_Missense_Mutation_p.E258D|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000380027.1_Missense_Mutation_p.E258D|TRIM5_ENST00000396853.4_Missense_Mutation_p.E259D|TRIM5_ENST00000396855.3_Missense_Mutation_p.E258D|TRIM5_ENST00000305836.5_Missense_Mutation_p.E258D			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	258					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		AGGTCACGTTCTCCGTCCTAA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	83	83			NA	NA	11		NA											NA				5687305		2201	4297	6498	SO:0001583	missense			AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256	85363	85363		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	16276	protein-coding gene	gene with protein product	tripartite motif protein TRIM5, tripartite motif protein TRIM	608487	tripartite motif-containing 5		NA	11331580	Standard	NM_033034	NM_033034	NA	Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000396847.3:c.774G>T	11.37:g.5687305C>A	ENSP00000380058:p.Glu258Asp	NA	A6NGQ1|A8WFA8|D3DQS8|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	37	CCDS31394.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.901831	0.33535	.	.	ENSG00000132256	ENST00000396855;ENST00000305836;ENST00000380034;ENST00000380027;ENST00000396847;ENST00000396853	T;T;T;T;T;T	0.03524	3.9;3.9;3.9;3.9;3.9;3.9	3.84	-0.387	0.12463	.	1.506160	0.04073	N	0.308285	T	0.07052	0.0179	M	0.76838	2.35	0.09310	N	1	B;B;B	0.20261	0.043;0.004;0.001	B;B;B	0.23150	0.044;0.027;0.009	T	0.44003	-0.9356	10	0.62326	D	0.03	.	3.3104	0.07015	0.3351:0.4558:0.0:0.2091	.	258;258;258	Q9C035-3;Q9C035-4;Q9C035	.;.;TRIM5_HUMAN	D	258;258;258;258;258;259	ENSP00000380064:E258D;ENSP00000307031:E258D;ENSP00000369373:E258D;ENSP00000369366:E258D;ENSP00000380058:E258D;ENSP00000380062:E259D	ENSP00000307031:E258D	E	-	3	2	TRIM5	5643881	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.486000	0.06513	-0.049000	0.13379	-0.140000	0.14226	GAG	TRIM5-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000143363.2		-	ENST00000396847.3	Missense_Mutation	SNP	11 : 5687305 - 5687305 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	352	65
IL31RA	133396	broad.mit.edu	37	5	55203234	55203234	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55203234T>G	ENST00000396834.1	+	12	1739	c.1243T>G	c.(1243-1245)Ttg>Gtg	p.L415V	IL31RA_ENST00000490985.1_Missense_Mutation_p.L292V|IL31RA_ENST00000354961.4_Missense_Mutation_p.L415V|IL31RA_ENST00000359040.5_Missense_Mutation_p.L434V|IL31RA_ENST00000297015.3_Missense_Mutation_p.L292V|IL31RA_ENST00000447346.2_Missense_Mutation_p.L434V|IL31RA_ENST00000396836.2_Missense_Mutation_p.L434V	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	402	Fibronectin type-III 4.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GTATCCAATGTTGCATGACAA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	103	107			NA	NA	5		NA											NA				55203234		2203	4300	6503	SO:0001583	missense			AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509	133396	133396		Interleukins and interleukin receptors, Fibronectin type III domain containing	18969	protein-coding gene	gene with protein product		609510			NA	15184896, 11877449	Standard	NM_139017	NM_139017	NA	Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000396834.1:c.1243T>G	5.37:g.55203234T>G	ENSP00000380046:p.Leu415Val	NA	A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	37	CCDS56366.1	.	.	.	.	.	.	.	.	.	.	T	6.949	0.545020	0.13312	.	.	ENSG00000164509	ENST00000396836;ENST00000396834;ENST00000447346;ENST00000359040;ENST00000297015;ENST00000490985;ENST00000354961	T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.78	0.436	0.16549	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.773311	0.12435	N	0.469226	T	0.36110	0.0955	M	0.68317	2.08	0.09310	N	1	B;B;B;B;B	0.29988	0.068;0.112;0.112;0.112;0.264	B;B;B;B;B	0.24701	0.014;0.032;0.032;0.032;0.055	T	0.25502	-1.0130	10	0.31617	T	0.26	-20.9055	1.2853	0.02049	0.3049:0.0871:0.158:0.45	.	402;434;415;434;434	Q8NI17;Q8NI17-5;Q8NI17-3;Q8NI17-2;Q8NI17-8	IL31R_HUMAN;.;.;.;.	V	434;415;434;434;292;292;415	ENSP00000380048:L434V;ENSP00000380046:L415V;ENSP00000415900:L434V;ENSP00000351935:L434V;ENSP00000297015:L292V;ENSP00000427533:L292V;ENSP00000347047:L415V	ENSP00000297015:L292V	L	+	1	2	IL31RA	55238991	0.000000	0.05858	0.008000	0.14137	0.430000	0.31655	-0.124000	0.10595	0.504000	0.28082	0.533000	0.62120	TTG	IL31RA-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313796.3		+	ENST00000396834.1	Missense_Mutation	SNP	5 : 55203234 - 55203234 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	13
COL5A3	50509	broad.mit.edu	37	19	10081698	10081698	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10081698C>A	ENST00000264828.3	-	53	3920	c.3835G>T	c.(3835-3837)Gat>Tat	p.D1279Y		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1279	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGGGAACCATCTATGCCCTGC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	65	65			NA	NA	19		NA											NA				10081698		2203	4300	6503	SO:0001583	missense			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573	50509	50509		Collagens	14864	protein-coding gene	gene with protein product		120216			NA	10722718	Standard	NM_015719	NM_015719	NA	Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3835G>T	19.37:g.10081698C>A	ENSP00000264828:p.Asp1279Tyr	NA	Q9NZQ6	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.259475	0.59321	.	.	ENSG00000080573	ENST00000264828	D	0.94330	-3.4	4.46	4.46	0.54185	.	0.144776	0.44688	D	0.000427	D	0.95121	0.8419	M	0.67517	2.055	0.54753	D	0.999988	D	0.71674	0.998	P	0.60789	0.879	D	0.94502	0.7710	10	0.41790	T	0.15	.	14.6536	0.68817	0.0:1.0:0.0:0.0	.	1279	P25940	CO5A3_HUMAN	Y	1279	ENSP00000264828:D1279Y	ENSP00000264828:D1279Y	D	-	1	0	COL5A3	9942698	0.961000	0.32948	0.041000	0.18516	0.349000	0.29174	4.675000	0.61619	2.306000	0.77630	0.455000	0.32223	GAT	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000315788.1		-	ENST00000264828.3	Missense_Mutation	SNP	19 : 10081698 - 10081698 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	434	69
BAMBI	25805	broad.mit.edu	37	10	28970998	28970998	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28970998C>T	ENST00000375533.3	+	3	1007	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	151					cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding			central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						GTTGTGGTTCCGGGCAGCGGT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TRP/ARG	0,4406		0,0,2203	120	108	112		451	3.8	1	10		112	3,8597	3.0+/-9.4	0,3,4297	no	missense	BAMBI	NM_012342.2	101	0,3,6500	TT,TC,CC	NA	0.0349,0.0,0.0231	probably-damaging	151/261	28970998	3,13003	2203	4300	6503	SO:0001583	missense			U23070	CCDS7162.1	10p12.3-p11.2	2013-07-23	2013-07-23		ENSG00000095739	ENSG00000095739	25805	25805			30251	protein-coding gene	gene with protein product		604444	BMP and activin membrane-bound inhibitor homolog (Xenopus laevis)		NA	8621228, 19758997	Standard	NM_012342	NM_012342	NA	Approved	NMA	uc001iuj.1	Q13145	OTTHUMG00000017874	ENST00000375533.3:c.451C>T	10.37:g.28970998C>T	ENSP00000364683:p.Arg151Trp	NA		37	CCDS7162.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.494650	0.64186	0.0	3.49E-4	ENSG00000095739	ENST00000375533;ENST00000542444	.	.	.	5.86	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.73900	0.3646	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.75921	-0.3147	9	0.87932	D	0	-3.3249	13.3044	0.60345	0.3251:0.6749:0.0:0.0	.	151	Q13145	BAMBI_HUMAN	W	151;138	.	ENSP00000364683:R151W	R	+	1	2	BAMBI	29011004	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	3.298000	0.51818	2.778000	0.95560	0.655000	0.94253	CGG	BAMBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047374.1		+	ENST00000375533.3	Missense_Mutation	SNP	10 : 28970998 - 28970998 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	384	72
ATP9A	10079	broad.mit.edu	37	20	50310575	50310575	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50310575G>A	ENST00000338821.5	-	7	878	c.614C>T	c.(613-615)gCc>gTc	p.A205V	ATP9A_ENST00000402822.1_Intron|ATP9A_ENST00000311637.5_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	205					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			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTGCGTGCAGGCCACGGGAAG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	49	49			NA	NA	20		NA											NA				50310575		2203	4300	6503	SO:0001583	missense			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793	10079	10079		ATPases / P-type	13540	protein-coding gene	gene with protein product		609126	ATPase, Class II, type 9A		NA	9734811, 11015572	Standard	NM_006045	NM_006045	NA	Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.614C>T	20.37:g.50310575G>A	ENSP00000342481:p.Ala205Val	NA	E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	37	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305346	0.60305	.	.	ENSG00000054793	ENST00000338821	D	0.90955	-2.76	5.04	5.04	0.67666	ATPase, P-type, ATPase-associated domain (1);	0.049853	0.85682	D	0.000000	D	0.83954	0.5366	N	0.11845	0.185	0.80722	D	1	B	0.20459	0.045	B	0.29176	0.099	T	0.81035	-0.1115	10	0.52906	T	0.07	-37.016	15.3011	0.73952	0.0:0.217:0.783:0.0	.	205	O75110	ATP9A_HUMAN	V	205	ENSP00000342481:A205V	ENSP00000342481:A205V	A	-	2	0	ATP9A	49743982	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	6.348000	0.73009	2.329000	0.79093	0.655000	0.94253	GCC	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000106494.1		-	ENST00000338821.5	Missense_Mutation	SNP	20 : 50310575 - 50310575 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	650	119
C12orf42	374470	broad.mit.edu	37	12	103700054	103700054	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:103700054G>T	ENST00000548048.1	-	8	624	c.128C>A	c.(127-129)cCc>cAc	p.P43H	C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548883.1_Missense_Mutation_p.P110H|C12orf42_ENST00000378113.2_Missense_Mutation_p.P110H|C12orf42_ENST00000548789.1_5'UTR			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	110										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						AGAACACCTGGGGACTATGTA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	62	62			NA	NA	12		NA											NA				103700054		1837	4086	5923	SO:0001583	missense			AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088	374470	374470			24729	protein-coding gene	gene with protein product					NA		Standard	NM_198521	NM_001099336	NA	Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000548048.1:c.128C>A	12.37:g.103700054G>T	ENSP00000449362:p.Pro43His	NA	Q49A64|Q4G0S2	37		.	.	.	.	.	.	.	.	.	.	G	17.28	3.349636	0.61183	.	.	ENSG00000179088	ENST00000548883;ENST00000548048;ENST00000378113;ENST00000552578	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	4.21	4.21	0.49690	.	0.214048	0.23758	N	0.044846	T	0.67458	0.2895	L	0.29908	0.895	0.25731	N	0.985263	D	0.89917	1.0	D	0.81914	0.995	T	0.59418	-0.7458	10	0.87932	D	0	-10.6708	12.4434	0.55637	0.0:0.0:1.0:0.0	.	110	Q96LP6	CL042_HUMAN	H	110;43;110;110	ENSP00000447908:P110H;ENSP00000449362:P43H;ENSP00000367353:P110H;ENSP00000447795:P110H	ENSP00000367353:P110H	P	-	2	0	C12orf42	102224184	0.963000	0.33076	0.643000	0.29450	0.071000	0.16799	3.419000	0.52728	2.646000	0.89796	0.449000	0.29647	CCC	C12orf42-003	PUTATIVE	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000406947.1		-	ENST00000548048.1	Missense_Mutation	SNP	12 : 103700054 - 103700054 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	131	12
SORCS2	57537	broad.mit.edu	37	4	7705999	7705999	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7705999C>T	ENST00000507866.2	+	14	1965	c.1856C>T	c.(1855-1857)aCg>aTg	p.T619M	SORCS2_ENST00000329016.9_Missense_Mutation_p.T447M	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	619						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GGGGACGAGACGCTGGTCATG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	MET/THR	0,4272		0,0,2136	44	50	48		1856	2.7	1	4		48	4,8468		0,4,4232	yes	missense	SORCS2	NM_020777.2	81	0,4,6368	TT,TC,CC	NA	0.0472,0.0,0.0314	probably-damaging	619/1160	7705999	4,12740	2136	4236	6372	SO:0001583	missense			AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985	57537	57537			16698	protein-coding gene	gene with protein product		606284			NA	11499680	Standard	NM_020777	NM_020777	NA	Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.1856C>T	4.37:g.7705999C>T	ENSP00000422185:p.Thr619Met	NA	Q9P2L7	37	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.124635	0.37533	0.0	4.72E-4	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.30981	1.51;1.51	3.52	2.67	0.31697	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.55705	0.1937	M	0.85197	2.74	0.53688	D	0.999973	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.60031	-0.7342	10	0.87932	D	0	.	10.0073	0.41964	0.0:0.8942:0.0:0.1058	.	447;619	B5MED8;Q96PQ0	.;SORC2_HUMAN	M	619;447	ENSP00000422185:T619M;ENSP00000329124:T447M	ENSP00000329124:T447M	T	+	2	0	SORCS2	7756899	1.000000	0.71417	0.997000	0.53966	0.108000	0.19459	6.211000	0.72182	0.799000	0.34018	-0.136000	0.14681	ACG	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358685.4		+	ENST00000507866.2	Missense_Mutation	SNP	4 : 7705999 - 7705999 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	105	12
NCAN	1463	broad.mit.edu	37	19	19351435	19351435	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19351435A>G	ENST00000252575.6	+	12	3532	c.3433A>G	c.(3433-3435)Atc>Gtc	p.I1145V	NCAN_ENST00000538881.1_Missense_Mutation_p.I596V	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	NA	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			AAACACGTGGATCGGCCTGAA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	104	119			NA	NA	19		NA											NA				19351435		2203	4300	6503	SO:0001583	missense			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287	1463	1463		Immunoglobulin superfamily / V-set domain containing, Proteoglycans / Extracellular Matrix : Hyalectans, Endogenous ligands	2465	protein-coding gene	gene with protein product	neurocan proteoglycan	600826	chondroitin sulfate proteoglycan 3	CSPG3	NA	1326557, 21353194	Standard	NM_004386	NM_004386	NA	Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3433A>G	19.37:g.19351435A>G	ENSP00000252575:p.Ile1145Val	NA	Q9UPK6	37	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	a	17.84	3.487349	0.63962	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	T;T	0.28255	1.62;1.62	3.98	2.93	0.34026	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.289221	0.19360	N	0.116172	T	0.41050	0.1142	M	0.86178	2.8	0.39059	D	0.960496	B	0.33171	0.4	B	0.39465	0.3	T	0.38929	-0.9638	10	0.56958	D	0.05	.	8.5633	0.33525	0.8046:0.1953:0.0:0.0	.	1145	O14594	NCAN_HUMAN	V	1159;1145;596	ENSP00000252575:I1145V;ENSP00000442202:I596V	ENSP00000252575:I1145V	I	+	1	0	NCAN	19212435	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	6.913000	0.75759	0.557000	0.29117	0.240000	0.17902	ATC	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460111.2		+	ENST00000252575.6	Missense_Mutation	SNP	19 : 19351435 - 19351435 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	422	35
ZNF85	7639	broad.mit.edu	37	19	21132849	21132849	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21132849A>G	ENST00000601023.1	+	2	1998	c.1352A>G	c.(1351-1353)tAc>tGc	p.Y451C	ZNF85_ENST00000345030.6_Missense_Mutation_p.Y477C|ZNF85_ENST00000328178.8_Missense_Mutation_p.Y510C			Q03923	ZNF85_HUMAN	zinc finger protein 85	510						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						GAGAAACCATACAAATGTGAA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	30	29			NA	NA	19		NA											NA				21132849		2154	4278	6432	SO:0001583	missense			U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750	7639	7639		Zinc fingers, C2H2-type, -	13160	protein-coding gene	gene with protein product		603899	zinc finger protein 85 (HPF4, HTF1)		NA	2505992	Standard	NM_003429	NM_003429	NA	Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000601023.1:c.1352A>G	19.37:g.21132849A>G	ENSP00000472206:p.Tyr451Cys	NA	B9ZVP4	37		.	.	.	.	.	.	.	.	.	.	.	10.80	1.452397	0.26074	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.25414	1.8;1.8	1.35	-0.205	0.13196	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46814	0.1412	M	0.82630	2.6	0.23585	N	0.997358	B;D;D	0.89917	0.335;1.0;1.0	B;D;D	0.87578	0.079;0.998;0.99	T	0.21381	-1.0247	9	0.66056	D	0.02	.	4.7728	0.13164	0.5682:0.0:0.0:0.4318	.	477;451;510	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	C	510;477;385	ENSP00000329793:Y510C;ENSP00000342340:Y477C	ENSP00000329793:Y510C	Y	+	2	0	ZNF85	20924689	0.001000	0.12720	0.011000	0.14972	0.135000	0.20990	-0.032000	0.12266	0.569000	0.29329	0.379000	0.24179	TAC	ZNF85-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000463433.2		+	ENST00000601023.1	Missense_Mutation	SNP	19 : 21132849 - 21132849 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	237	43
EPHA1	2041	broad.mit.edu	37	7	143096798	143096798	+	Missense_Mutation	SNP	G	G	A	rs140233341	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143096798G>A	ENST00000275815.3	-	4	867	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	261	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CAGTGGCACCGTCCTACAGGC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG	3,4403	4.2+/-10.8	0,3,2200	39	43	42		781	2.2	0	7	dbSNP_134	42	1,8599	1.2+/-3.3	0,1,4299	yes	missense	EPHA1	NM_005232.4	101	0,4,6499	AA,AG,GG	NA	0.0116,0.0681,0.0308	probably-damaging	261/977	143096798	4,13002	2203	4300	6503	SO:0001583	missense			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2041	2041	2.7.10.1	EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3385	protein-coding gene	gene with protein product		179610	EphA1	EPHT, EPHT1	NA	9267020	Standard		NM_005232	NA	Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.781C>T	7.37:g.143096798G>A	ENSP00000275815:p.Arg261Trp	NA	A1L3V3|Q15405	37	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.288654	0.59976	6.81E-4	1.16E-4	ENSG00000146904	ENST00000275815	D	0.97430	-4.38	5.22	2.17	0.27698	Tyrosine-protein kinase, receptor class V, conserved site (1);Growth factor, receptor (1);	0.651298	0.14092	N	0.341931	D	0.96306	0.8795	M	0.78916	2.43	0.09310	N	1	D	0.61697	0.99	B	0.43623	0.425	D	0.90797	0.4691	10	0.87932	D	0	.	13.8135	0.63276	0.0:0.0:0.4721:0.5279	.	261	P21709	EPHA1_HUMAN	W	261	ENSP00000275815:R261W	ENSP00000275815:R261W	R	-	1	2	EPHA1	142806920	0.258000	0.24033	0.046000	0.18839	0.924000	0.55760	3.072000	0.50049	0.697000	0.31718	0.655000	0.94253	CGG	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342154.1		-	ENST00000275815.3	Missense_Mutation	SNP	7 : 143096798 - 143096798 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	384	75
ETV1	2115	broad.mit.edu	37	7	13946113	13946113	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:13946113G>A	ENST00000405192.2	-	10	1183	c.983C>T	c.(982-984)tCt>tTt	p.S328F	ETV1_ENST00000403685.1_Missense_Mutation_p.S333F|ETV1_ENST00000430479.1_Missense_Mutation_p.S351F|ETV1_ENST00000405218.2_Missense_Mutation_p.S351F|ETV1_ENST00000405358.4_Missense_Mutation_p.S365F|ETV1_ENST00000343495.5_Missense_Mutation_p.S333F|ETV1_ENST00000399357.3_Missense_Mutation_p.S248F|ETV1_ENST00000420159.2_Missense_Mutation_p.S293F|ETV1_ENST00000242066.5_Missense_Mutation_p.S333F|ETV1_ENST00000403527.1_Missense_Mutation_p.S311F	NM_001163147.1	NP_001156619.1	P50549	ETV1_HUMAN	ets variant 1	351					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						AATAAAATGAGAATTTGAAGG	0.433		NA	T	EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3	Ewing sarcoma, prostate									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		7	7p22	2115	ets variant gene 1		M, E	0													61	62	61			NA	NA	7		NA											NA				13946113		1884	4125	6009	SO:0001583	missense				CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468	2115	2115			3490	protein-coding gene	gene with protein product		600541	ets variant gene 1		NA	1340465	Standard	NM_004956	NM_004956	NA	Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000405192.2:c.983C>T	7.37:g.13946113G>A	ENSP00000385381:p.Ser328Phe	NA	A4D118|B2R768|B7Z2I4|O75849|Q4KMQ6|Q9UQ71|Q9Y636	37	CCDS55087.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778141	0.90195	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685	T;T;T;T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43	5.9	5.9	0.94986	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (3);	0.000000	0.85682	D	0.000000	T	0.74891	0.3776	M	0.75085	2.285	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.993;0.999;0.998;0.998;0.998;0.997	D;P;D;D;D;D;D	0.83275	0.989;0.905;0.972;0.992;0.993;0.996;0.961	T	0.75950	-0.3137	10	0.87932	D	0	.	20.2704	0.98474	0.0:0.0:1.0:0.0	.	339;333;365;293;248;311;351	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;P50549	.;.;.;.;.;.;ETV1_HUMAN	F	351;333;333;293;248;328;365;311;351;333	ENSP00000405327:S351F;ENSP00000242066:S333F;ENSP00000340853:S333F;ENSP00000411626:S293F;ENSP00000382293:S248F;ENSP00000385381:S328F;ENSP00000384085:S365F;ENSP00000384138:S311F;ENSP00000385551:S351F;ENSP00000385686:S333F	ENSP00000242066:S333F	S	-	2	0	ETV1	13912638	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.550000	0.73905	2.793000	0.96121	0.591000	0.81541	TCT	ETV1-005	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326115.2		-	ENST00000405192.2	Missense_Mutation	SNP	7 : 13946113 - 13946113 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	92	19
UBXN1	51035	broad.mit.edu	37	11	62444433	62444433	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62444433G>A	ENST00000533000.1	-	4	226				UBXN1_ENST00000529640.1_Silent_p.A228A|UBXN1_ENST00000294119.2_Silent_p.A232A|UBXN1_ENST00000301935.5_Silent_p.A232A			Q04323	UBXN1_HUMAN	UBX domain protein 1	NA					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding			endometrium(5)|lung(12)	17						GCTGTTCCCGGGCCCGGAACG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	62	61			NA	NA	11		NA											NA				62444433		2202	4299	6501	SO:0001627	intron_variant				CCDS8029.1, CCDS66105.1, CCDS73307.1	11q23	2014-02-12	2008-07-25		ENSG00000162191	ENSG00000162191	51035	51035		UBX domain containing	18402	protein-coding gene	gene with protein product	SAPK substrate protein 1				NA	12838346, 20351172	Standard	NM_015853	NM_001286078	NA	Approved	LOC51035, 2B28, UBXD10, SAKS1	uc001nuj.3	Q04323	OTTHUMG00000167580	ENST00000533000.1:c.226-322C>T	11.37:g.62444433G>A		NA	Q9BV93|Q9BVV5	37																																																																																				UBXN1-017	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000395154.1		-	ENST00000533000.1	Intron	SNP	11 : 62444433 - 62444433 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	533	54
PTPRB	5787	broad.mit.edu	37	12	70949649	70949649	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70949649C>T	ENST00000550358.1	-	18	4755		c.e18+1		PTPRB_ENST00000451516.2_Splice_Site|PTPRB_ENST00000538708.1_Splice_Site|PTPRB_ENST00000334414.6_Splice_Site|PTPRB_ENST00000261266.5_Splice_Site|PTPRB_ENST00000550857.1_Splice_Site			P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	NA					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGGACACTTACGGTCTATCAT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	80	80			NA	NA	12		NA											NA				70949649		2015	4179	6194	SO:0001630	splice_region_variant			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11					NA	5787		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing	9665	protein-coding gene	gene with protein product		176882		PTPB	NA	2169617	Standard		NM_001109754	NA	Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000550358.1:c.4729+1G>A	12.37:g.70949649C>T		NA	B7ZKT0|C9JX87|Q14D85|Q3MIV7	37		.	.	.	.	.	.	.	.	.	.	C	27.4	4.829620	0.91036	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5187	0.95176	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPRB	69235916	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.169000	0.77578	2.609000	0.88269	0.563000	0.77884	.	PTPRB-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000404436.1	Intron	-	ENST00000550358.1	Splice_Site	SNP	12 : 70949649 - 70949649 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	126	22
HMCES	56941	broad.mit.edu	37	3	128998687	128998687	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128998687T>C	ENST00000383463.4	+	2	201	c.112T>C	c.(112-114)Tac>Cac	p.Y38H	HMCES_ENST00000502878.2_Missense_Mutation_p.Y38H|HMCES_ENST00000389735.3_Missense_Mutation_p.Y38H|HMCES_ENST00000417226.2_Missense_Mutation_p.Y38H	NM_020187.2	NP_064572.2			5-hydroxymethylcytosine (hmC) binding, ES cell-specific	38											NA						CCCTGATAAGTACTGCCCCTC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	87	91			NA	NA	3		NA											NA				128998687		2203	4300	6503	SO:0001583	missense			AF201934	CCDS33852.1	3q21.3	2013-08-30	2013-08-30	2013-08-30	ENSG00000183624	ENSG00000183624	56941	56941			24446	protein-coding gene	gene with protein product	SOS response associated peptidase domain containing 1		chromosome 3 open reading frame 37	C3orf37	NA	23434322, 23945014	Standard	NM_020187	XM_005247636	NA	Approved	DC12, SRAPD1	uc003elt.3	Q96FZ2	OTTHUMG00000159452	ENST00000383463.4:c.112T>C	3.37:g.128998687T>C	ENSP00000372955:p.Tyr38His	NA		37	CCDS33852.1	.	.	.	.	.	.	.	.	.	.	T	15.79	2.938244	0.52972	.	.	ENSG00000183624	ENST00000509042;ENST00000383463;ENST00000417226;ENST00000510314;ENST00000502878;ENST00000389735;ENST00000509551;ENST00000511665	.	.	.	4.8	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.78084	0.4228	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.77584	-0.2533	9	0.59425	D	0.04	-21.1368	8.5671	0.33547	0.0:0.0934:0.0:0.9066	.	38;38	E7EMP6;Q96FZ2	.;CC037_HUMAN	H	38	.	ENSP00000372955:Y38H	Y	+	1	0	C3orf37	130481377	1.000000	0.71417	0.086000	0.20670	0.028000	0.11728	5.333000	0.65917	0.674000	0.31244	0.533000	0.62120	TAC	HMCES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355470.2		+	ENST00000383463.4	Missense_Mutation	SNP	3 : 128998687 - 128998687 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	51
MYO7A	4647	broad.mit.edu	37	11	76891429	76891429	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76891429C>T	ENST00000409709.3	+	22	2868	c.2596C>T	c.(2596-2598)Cgc>Tgc	p.R866C	MYO7A_ENST00000458637.2_Missense_Mutation_p.R866C|MYO7A_ENST00000409893.1_Missense_Mutation_p.R866C|MYO7A_ENST00000409619.2_Missense_Mutation_p.R855C	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	866					actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GTATCTGTGGCGCCTCGAGGC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	39	38			NA	NA	11		NA											NA				76891429		2037	4176	6213	SO:0001583	missense			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474	4647	4647		A-kinase anchor proteins, Myosins / Myosin superfamily : Class VII	7606	protein-coding gene	gene with protein product		276903	myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))	USH1B, DFNB2, DFNA11	NA	8884266	Standard	NM_000260	NM_000260	NA	Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.2596C>T	11.37:g.76891429C>T	ENSP00000386331:p.Arg866Cys	NA	P78427|Q13321|Q14785|Q92821|Q92822	37	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	.	20.1	3.932269	0.73442	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419;ENST00000458169	D;D;D;D;D	0.89050	-2.42;-2.46;-2.42;-2.43;-2.25	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.88691	0.6505	N	0.14661	0.345	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	P;P;P;P	0.61800	0.871;0.871;0.894;0.871	D	0.89193	0.3552	10	0.39692	T	0.17	.	18.9552	0.92655	0.0:1.0:0.0:0.0	.	866;855;866;866	B9A012;B9A011;F8VUN5;Q13402	.;.;.;MYO7A_HUMAN	C	866;866;866;855;77;865;865;742;865;47	ENSP00000386331:R866C;ENSP00000386689:R866C;ENSP00000392185:R866C;ENSP00000386635:R855C;ENSP00000417017:R47C	ENSP00000345075:R742C	R	+	1	0	MYO7A	76569077	1.000000	0.71417	0.998000	0.56505	0.837000	0.47467	3.622000	0.54217	2.476000	0.83614	0.448000	0.29417	CGC	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328133.1		+	ENST00000409709.3	Missense_Mutation	SNP	11 : 76891429 - 76891429 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	136	7
SEC31A	22872	broad.mit.edu	37	4	83742226	83742226	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83742226A>G	ENST00000395310.2	-	26	3629	c.3447T>C	c.(3445-3447)cgT>cgC	p.R1149R	SEC31A_ENST00000500777.2_Silent_p.R996R|SEC31A_ENST00000264405.5_Silent_p.R898R|SEC31A_ENST00000509142.1_Silent_p.R1035R|SEC31A_ENST00000448323.1_Silent_p.R1149R|SEC31A_ENST00000508502.1_Silent_p.R1134R|SEC31A_ENST00000505472.1_Silent_p.R1180R|SEC31A_ENST00000443462.2_Silent_p.R1129R|SEC31A_ENST00000348405.4_Silent_p.R1110R|SEC31A_ENST00000311785.7_Silent_p.R1035R|SEC31A_ENST00000432794.1_Silent_p.R1162R|SEC31A_ENST00000505984.1_Silent_p.R1095R|SEC31A_ENST00000326950.5_Silent_p.R1110R|SEC31A_ENST00000355196.2_Silent_p.R1149R|SEC31A_ENST00000513858.1_Silent_p.R996R	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1149					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GAAACTCCAAACGTTTGCTGG	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													203	213	209			NA	NA	4		NA											NA				83742226		2203	4300	6503	SO:0001819	synonymous_variant			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674	22872	22872		WD repeat domain containing	17052	protein-coding gene	gene with protein product		610257	SEC31-like 1 (S. cerevisiae), Sec31 homolog A (S. cerevisiae)	SEC31L1	NA	10048485, 10788476	Standard	NM_016211	NM_001077206	NA	Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.3447T>C	4.37:g.83742226A>G		NA	B7ZKZ7|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	37	CCDS3596.1	.	.	.	.	.	.	.	.	.	.	A	10.15	1.270299	0.23221	.	.	ENSG00000138674	ENST00000503937	.	.	.	5.62	-1.08	0.09936	.	.	.	.	.	T	0.65595	0.2706	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63839	-0.6546	4	.	.	.	-11.6076	13.9446	0.64077	0.1817:0.0:0.8183:0.0	.	.	.	.	A	312	.	.	V	-	2	0	SEC31A	83961250	0.993000	0.37304	0.995000	0.50966	0.983000	0.72400	0.290000	0.18975	-0.129000	0.11620	-0.250000	0.11733	GTT	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252640.1		-	ENST00000395310.2	Silent	SNP	4 : 83742226 - 83742226 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1014	152
C7orf41	0	broad.mit.edu	37	7	30174882	30174882	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30174882C>A	ENST00000409688.1	+	1	279	c.130C>A	c.(130-132)Ctg>Atg	p.L44M	C7orf41_ENST00000415604.1_Missense_Mutation_p.L44M|C7orf41_ENST00000324453.8_Missense_Mutation_p.L44M			Q8N3F0	CG041_HUMAN		44										NS(1)|large_intestine(2)	3						CTTCTATGTGCTGTGTCCGGA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	29	26			NA	NA	7		NA											NA				30174882		2158	4270	6428	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000409688.1:c.130C>A	7.37:g.30174882C>A	ENSP00000386490:p.Leu44Met	NA	Q8N791|Q8N8M4|Q8NEX2	37		.	.	.	.	.	.	.	.	.	.	C	15.38	2.816213	0.50527	.	.	ENSG00000180354	ENST00000324453;ENST00000409688;ENST00000415604	.	.	.	3.65	2.75	0.32379	.	0.207640	0.30714	U	0.009021	T	0.52805	0.1757	N	0.24115	0.695	0.80722	D	1	D	0.62365	0.991	D	0.65323	0.934	T	0.52668	-0.8545	9	0.66056	D	0.02	-9.4088	8.8308	0.35082	0.0:0.8806:0.0:0.1194	.	44	Q8N3F0	CG041_HUMAN	M	44	.	ENSP00000324204:L44M	L	+	1	2	C7orf41	30141407	1.000000	0.71417	0.998000	0.56505	0.109000	0.19521	3.833000	0.55790	0.497000	0.27926	0.289000	0.19496	CTG	C7orf41-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000327708.1		+	ENST00000409688.1	Missense_Mutation	SNP	7 : 30174882 - 30174882 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	99	14
POU6F1	5463	broad.mit.edu	37	12	51585522	51585522	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51585522C>T	ENST00000389243.4	-	10	1356	c.417G>A	c.(415-417)gaG>gaA	p.E139E	POU6F1_ENST00000333640.10_Silent_p.E139E|POU6F1_ENST00000550824.1_Silent_p.E139E			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	139	Gln/Pro-rich.|POU-specific.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						TGATCCCATCCTCATCCAGAC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	107	107			NA	NA	12		NA											NA				51585522		2203	4300	6503	SO:0001819	synonymous_variant			AL832881	CCDS31803.1	12q13.13	2011-06-20	2007-07-13			ENSG00000184271	5463	5463		Homeoboxes / POU class	9224	protein-coding gene	gene with protein product			POU domain, class 6, transcription factor 1		NA	7908264	Standard	NM_002702	NM_002702	NA	Approved	BRN5, MPOU, TCFB1	uc001rxz.3	Q14863		ENST00000389243.4:c.417G>A	12.37:g.51585522C>T		NA	Q15944|Q6DK47|Q7Z7P6	37	CCDS31803.1																																																																																			POU6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405126.1		-	ENST00000389243.4	Silent	SNP	12 : 51585522 - 51585522 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	800	150
TRPM4	54795	broad.mit.edu	37	19	49703979	49703979	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49703979C>T	ENST00000252826.5	+	19	3016	c.2890C>T	c.(2890-2892)Cgc>Tgc	p.R964C	TRPM4_ENST00000427978.2_Missense_Mutation_p.R819C|TRPM4_ENST00000355712.5_Missense_Mutation_p.R610C	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	964					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		AAGTATCCTGCGCCGCGTCTT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	58	60			NA	NA	19		NA											NA				49703979		2203	4300	6503	SO:0001583	missense			AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529	54795	54795		Voltage-gated ion channels / Transient receptor potential cation channels	17993	protein-coding gene	gene with protein product		606936			NA	11535825, 16382100	Standard	NM_017636	NM_017636	NA	Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.2890C>T	19.37:g.49703979C>T	ENSP00000252826:p.Arg964Cys	NA	A2RU25|Q7Z5D9|Q96L84|Q9NXV1	37	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.590570	0.66219	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.73469	-0.75;-0.75;-0.75	4.57	3.46	0.39613	.	0.123452	0.56097	D	0.000034	D	0.87509	0.6195	M	0.90145	3.09	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	D	0.90009	0.4120	10	0.87932	D	0	-24.2806	13.4979	0.61436	0.1561:0.8439:0.0:0.0	.	610;790;819;964	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	C	964;819;610	ENSP00000252826:R964C;ENSP00000407492:R819C;ENSP00000347944:R610C	ENSP00000252826:R964C	R	+	1	0	TRPM4	54395791	1.000000	0.71417	1.000000	0.80357	0.346000	0.29079	3.521000	0.53472	2.271000	0.75665	0.313000	0.20887	CGC	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465543.2		+	ENST00000252826.5	Missense_Mutation	SNP	19 : 49703979 - 49703979 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	51
CCT6A	908	broad.mit.edu	37	7	56125777	56125777	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56125777T>C	ENST00000275603.4	+	6	925	c.706T>C	c.(706-708)Tca>Cca	p.S236P	CCT6A_ENST00000540286.1_Missense_Mutation_p.S205P|CCT6A_ENST00000335503.3_Missense_Mutation_p.S191P	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	236					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTGTAACGTGTCATTAGAGTA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	66	69			NA	NA	7		NA											NA				56125777		2203	4300	6503	SO:0001583	missense			M94083	CCDS5523.1, CCDS34640.1	7p11.2	2011-09-02			ENSG00000146731	ENSG00000146731	908	908		Heat Shock Proteins / Chaperonins	1620	protein-coding gene	gene with protein product		104613		CCT6	NA	1352881, 8034610	Standard	NM_001762	NM_001762	NA	Approved	TTCP20, TCPZ, Cctz, HTR3, TCP20	uc003trl.1	P40227	OTTHUMG00000022842	ENST00000275603.4:c.706T>C	7.37:g.56125777T>C	ENSP00000275603:p.Ser236Pro	NA	Q3KP28|Q75LP4|Q96S46	37	CCDS5523.1	.	.	.	.	.	.	.	.	.	.	T	17.26	3.344422	0.61073	.	.	ENSG00000146731	ENST00000275603;ENST00000335503;ENST00000540286;ENST00000539340	T;T;T	0.78707	-1.2;-1.2;-1.2	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.81064	0.4745	L	0.45285	1.41	0.80722	D	1	D;B;B	0.58620	0.983;0.177;0.244	P;B;B	0.59948	0.866;0.174;0.215	T	0.77970	-0.2387	10	0.23891	T	0.37	-12.187	14.7035	0.69171	0.0:0.0:0.0:1.0	.	205;191;236	B4DPJ8;A6NCD2;P40227	.;.;TCPZ_HUMAN	P	236;191;205;94	ENSP00000275603:S236P;ENSP00000352019:S191P;ENSP00000438488:S205P	ENSP00000275603:S236P	S	+	1	0	CCT6A	56093271	1.000000	0.71417	0.991000	0.47740	0.029000	0.11900	7.291000	0.78721	2.151000	0.67156	0.397000	0.26171	TCA	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251526.2		+	ENST00000275603.4	Missense_Mutation	SNP	7 : 56125777 - 56125777 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	208	35
MYO7A	4647	broad.mit.edu	37	11	76870504	76870504	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76870504G>A	ENST00000409709.3	+	10	1287	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	MYO7A_ENST00000458637.2_Missense_Mutation_p.E339K|MYO7A_ENST00000409893.1_Missense_Mutation_p.E339K|MYO7A_ENST00000409619.2_Missense_Mutation_p.E328K	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	339	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.E339Q(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACGCACATTTGAAAACCTGGA	0.602		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)											84	84	84			NA	NA	11		NA											NA				76870504		1975	4154	6129	SO:0001583	missense			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474	4647	4647		A-kinase anchor proteins, Myosins / Myosin superfamily : Class VII	7606	protein-coding gene	gene with protein product		276903	myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))	USH1B, DFNB2, DFNA11	NA	8884266	Standard	NM_000260	NM_000260	NA	Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.1015G>A	11.37:g.76870504G>A	ENSP00000386331:p.Glu339Lys	NA	P78427|Q13321|Q14785|Q92821|Q92822	37	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269780	0.40095	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000343419	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	5.15	5.15	0.70609	Myosin head, motor domain (2);	0.218301	0.38720	N	0.001598	T	0.63307	0.2500	L	0.31294	0.92	0.44323	D	0.997201	B;B;B	0.23990	0.095;0.024;0.087	B;B;B	0.27076	0.063;0.025;0.076	T	0.59563	-0.7431	10	0.38643	T	0.18	.	18.6353	0.91376	0.0:0.0:1.0:0.0	.	339;339;339	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	K	339;339;339;328;338;338;338	ENSP00000386331:E339K;ENSP00000386689:E339K;ENSP00000392185:E339K;ENSP00000386635:E328K	ENSP00000340325:E338K	E	+	1	0	MYO7A	76548152	1.000000	0.71417	0.993000	0.49108	0.343000	0.28985	7.571000	0.82399	2.392000	0.81423	0.591000	0.81541	GAA	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328133.1		+	ENST00000409709.3	Missense_Mutation	SNP	11 : 76870504 - 76870504 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	353	40
LGSN	51557	broad.mit.edu	37	6	64004931	64004931	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64004931C>T	ENST00000370657.4	-	2	83	c.50G>A	c.(49-51)gGc>gAc	p.G17D	LGSN_ENST00000370658.5_Missense_Mutation_p.G17D			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	17					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	AGTCTCATTGCCTTCATCTCT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													222	198	206			NA	NA	6		NA											NA				64004931		2203	4300	6503	SO:0001583	missense			AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166	51557	51557			21016	protein-coding gene	gene with protein product		611470	glutamate-ammonia ligase (glutamine synthetase) domain containing 1	GLULD1	NA	12107412	Standard	NM_016571	NM_016571	NA	Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.50G>A	6.37:g.64004931C>T	ENSP00000359691:p.Gly17Asp	NA	A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	37	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	C	0.030	-1.339613	0.01277	.	.	ENSG00000146166	ENST00000370658;ENST00000370657	T;T	0.29917	1.55;1.71	4.71	-3.36	0.04913	.	1.469430	0.03347	N	0.195606	T	0.06142	0.0159	L	0.28115	0.83	0.09310	N	1	B;B;B	0.11235	0.004;0.0;0.0	B;B;B	0.09377	0.004;0.002;0.0	T	0.24941	-1.0146	10	0.42905	T	0.14	-0.0486	2.1585	0.03819	0.1468:0.2274:0.1273:0.4985	.	17;17;17	Q5TDP6-3;Q5TDP6-2;Q5TDP6	.;.;LGSN_HUMAN	D	17	ENSP00000359692:G17D;ENSP00000359691:G17D	ENSP00000359691:G17D	G	-	2	0	LGSN	64062890	0.000000	0.05858	0.044000	0.18714	0.045000	0.14185	-1.711000	0.01886	-0.751000	0.04734	-0.218000	0.12543	GGC	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041076.2		-	ENST00000370657.4	Missense_Mutation	SNP	6 : 64004931 - 64004931 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	52
DDX10	1662	broad.mit.edu	37	11	108593877	108593877	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108593877C>A	ENST00000526794.1	+	13	1685	c.1653C>A	c.(1651-1653)taC>taA	p.Y551*	DDX10_ENST00000322536.3_Nonsense_Mutation_p.Y551*			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	551							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TTAGAGCCTACTTCAATGAGA	0.438		NA	T	NUP98	AML*									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		11	11q22-q23	1662	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10		L	0													64	64	64			NA	NA	11		NA											NA				108593877		2201	4298	6499	SO:0001587	stop_gained			U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105	1662	1662		DEAD-boxes	2735	protein-coding gene	gene with protein product		601235	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)		NA	8660968	Standard	NM_004398	NM_004398	NA	Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000526794.1:c.1653C>A	11.37:g.108593877C>A	ENSP00000432032:p.Tyr551*	NA	B2RCQ3|Q5BJD8	37		.	.	.	.	.	.	.	.	.	.	C	37	5.993494	0.97184	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	.	.	.	4.9	-1.34	0.09143	.	0.632853	0.16915	N	0.194340	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-3.0433	5.9796	0.19399	0.0:0.4737:0.1559:0.3705	.	.	.	.	X	551;457;551	.	ENSP00000314348:Y551X	Y	+	3	2	DDX10	108099087	0.936000	0.31750	0.987000	0.45799	0.852000	0.48524	0.575000	0.23729	-0.070000	0.12908	0.484000	0.47621	TAC	DDX10-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000390346.1		+	ENST00000526794.1	Nonsense_Mutation	SNP	11 : 108593877 - 108593877 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	228	42
PRR14L	253143	broad.mit.edu	37	22	32072826	32072826	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32072826C>A	ENST00000397493.2	-	9	6550	c.6358G>T	c.(6358-6360)Gtc>Ttc	p.V2120F				Q5THK1	PR14L_HUMAN	proline rich 14-like	0										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						CAGCAAAGGACTAGCAGCCTC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	15	16			NA	NA	22		NA											NA				32072826		2202	4297	6499	SO:0001583	missense			BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530	253143	253143			28738	protein-coding gene	gene with protein product			chromosome 22 open reading frame 30	C22orf30	NA	12477932	Standard	NM_173566	NM_173566	NA	Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000397493.2:c.6358G>T	22.37:g.32072826C>A	ENSP00000380630:p.Val2120Phe	NA	Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.251|4.251	0.045543|0.045543	0.08196|0.08196	.|.	.|.	ENSG00000183530|ENSG00000183530	ENST00000330495|ENST00000397493	.|T	.|0.06933	.|3.24	0.552|0.552	0.552|0.552	0.17230|0.17230	.|.	.|.	.|.	.|.	.|.	T|T	0.12390|0.12390	0.0301|0.0301	.|.	.|.	.|.	0.18873|0.18873	N|N	0.999983|0.999983	.|P	.|0.47106	.|0.89	.|P	.|0.49332	.|0.607	T|T	0.17077|0.17077	-1.0381|-1.0381	3|7	.|0.87932	.|D	.|0	.|.	.|.	.|.	.|.	.|.	.|2120	.|Q5THK1-4	.|.	I|F	422|2120	.|ENSP00000380630:V2120F	.|ENSP00000380630:V2120F	S|V	-|-	2|1	0|0	PRR14L|PRR14L	30402826|30402826	.|.	.|.	0.010000|0.010000	0.14722|0.14722	0.047000|0.047000	0.14425|0.14425	.|.	.|.	0.571000|0.571000	0.29365|0.29365	0.393000|0.393000	0.25936|0.25936	AGT|GTC	PRR14L-201	KNOWN	basic	protein_coding	NA	protein_coding			-	ENST00000397493.2	Missense_Mutation	SNP	22 : 32072826 - 32072826 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	84	13
KIAA1143	57456	broad.mit.edu	37	3	44803019	44803019	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44803019C>T	ENST00000296121.4	-	1	135	c.76G>A	c.(76-78)Ggc>Agc	p.G26S		NM_020696.3	NP_065747.1	Q96AT1	K1143_HUMAN	KIAA1143	26										NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)		TCCCTGTAGCCGACCCGTTCC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	38	36			NA	NA	3		NA											NA				44803019		2203	4300	6503	SO:0001583	missense			AB032969	CCDS2721.1	3p21.31	2005-08-15			ENSG00000163807	ENSG00000163807	57456	57456			29198	protein-coding gene	gene with protein product					NA	10574461	Standard	NM_020696	NM_020696	NA	Approved		uc011bac.2	Q96AT1	OTTHUMG00000133088	ENST00000296121.4:c.76G>A	3.37:g.44803019C>T	ENSP00000296121:p.Gly26Ser	NA	A8K0I4|Q96HJ8|Q9ULS7	37	CCDS2721.1	.	.	.	.	.	.	.	.	.	.	C	36	5.828275	0.96996	.	.	ENSG00000163807	ENST00000296121	T	0.56444	0.46	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.76357	0.3976	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78555	-0.2159	9	.	.	.	-14.2314	18.8395	0.92177	0.0:1.0:0.0:0.0	.	26	Q96AT1	K1143_HUMAN	S	26	ENSP00000296121:G26S	.	G	-	1	0	KIAA1143	44778023	1.000000	0.71417	0.982000	0.44146	0.922000	0.55478	5.590000	0.67530	2.762000	0.94881	0.655000	0.94253	GGC	KIAA1143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256746.1		-	ENST00000296121.4	Missense_Mutation	SNP	3 : 44803019 - 44803019 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	58
MSH6	2956	broad.mit.edu	37	2	48026622	48026622	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48026622A>C	ENST00000234420.5	+	4	1652	c.1500A>C	c.(1498-1500)gcA>gcC	p.A500A	MSH6_ENST00000538136.1_Silent_p.A198A|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Silent_p.A370A	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	NA					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAAAGATGGCACATATATCCA	0.473		NA	Mis, N, F, S		colorectal	colorectal, endometrial, ovarian		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											93	86	88			NA	NA	2		NA											NA				48026622		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062	2956	2956			7329	protein-coding gene	gene with protein product		600678	mutS (E. coli) homolog 6, mutS homolog 6 (E. coli)	GTBP	NA	7604266	Standard	NM_000179	NM_000179	NA	Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.1500A>C	2.37:g.48026622A>C		NA	O43706|O43917|Q8TCX4|Q9BTB5	37	CCDS1836.1																																																																																			MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251180.4		+	ENST00000234420.5	Silent	SNP	2 : 48026622 - 48026622 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	59
YIF1A	10897	broad.mit.edu	37	11	66052203	66052203	+	Missense_Mutation	SNP	C	C	T	rs144345497		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66052203C>T	ENST00000471387.2	-	5	701	c.447G>A	c.(445-447)ccG>ccA	p.P149P	YIF1A_ENST00000376901.4_Missense_Mutation_p.V263I|CNIH2_ENST00000530519.1_Intron|YIF1A_ENST00000496746.1_Missense_Mutation_p.V49I|YIF1A_ENST00000359461.6_Missense_Mutation_p.V211I|YIF1A_ENST00000526497.1_5'UTR			O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	0					protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						TGCCGGGGGACGGGGCCCCCC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ILE/VAL	1,4383		0,1,2191	17	22	20		787	3.7	0	11	dbSNP_134	20	0,8550		0,0,4275	no	missense	YIF1A	NM_020470.2	29	0,1,6466	TT,TC,CC	NA	0.0,0.0228,0.0077	benign	263/294	66052203	1,12933	2192	4275	6467	SO:0001819	synonymous_variant			AF004876	CCDS8132.1, CCDS73325.1	11q13	2009-01-05	2005-06-07	2005-06-07	ENSG00000174851	ENSG00000174851	10897	10897			16688	protein-coding gene	gene with protein product		611484	Yip1 interacting factor homolog (S. cerevisiae)	YIF1	NA	8824393, 10970842, 18718466	Standard	NM_020470	NM_020470	NA	Approved	YIF1P, 54TM, FinGER7	uc001ohk.4	O95070	OTTHUMG00000102079	ENST00000471387.2:c.447G>A	11.37:g.66052203C>T		NA	A6NM00|Q96G83|Q9BVD0	37		.	.	.	.	.	.	.	.	.	.	C	6.485	0.457601	0.12342	2.28E-4	0.0	ENSG00000174851	ENST00000496746;ENST00000359461;ENST00000376901;ENST00000376904	T;T	0.43688	0.94;0.94	5.66	3.72	0.42706	.	0.739902	0.13028	N	0.419526	T	0.22475	0.0542	N	0.03608	-0.345	0.09310	N	1	B	0.18610	0.029	B	0.26202	0.067	T	0.26018	-1.0115	10	0.30078	T	0.28	-9.9507	10.6611	0.45702	0.0:0.7933:0.1328:0.074	.	263	O95070	YIF1A_HUMAN	I	49;211;263;267	ENSP00000352437:V211I;ENSP00000366098:V263I	ENSP00000352437:V211I	V	-	1	0	YIF1A	65808779	0.005000	0.15991	0.001000	0.08648	0.073000	0.16967	1.543000	0.36147	0.700000	0.31782	0.561000	0.74099	GTC	YIF1A-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000219906.2		-	ENST00000471387.2	Silent	SNP	11 : 66052203 - 66052203 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	259	55
NIN	51199	broad.mit.edu	37	14	51223934	51223934	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51223934G>A	ENST00000530997.2	-	16	3813	c.3814C>T	c.(3814-3816)Cgc>Tgc	p.R1272C	NIN_ENST00000453196.1_Missense_Mutation_p.R1272C|NIN_ENST00000382041.3_Missense_Mutation_p.R1272C|NIN_ENST00000389868.3_Intron|NIN_ENST00000245441.5_Missense_Mutation_p.R1272C|NIN_ENST00000324330.9_Missense_Mutation_p.R1272C|NIN_ENST00000382043.4_Intron			Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1272					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCATCGTAGCGTGTCTCCATC	0.443		NA	T	PDGFRB	MPD									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0													173	175	175			NA	NA	14		NA											NA				51223934		2203	4300	6503	SO:0001583	missense			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503	51199	51199		EF-hand domain containing	14906	protein-coding gene	gene with protein product		608684			NA	11004522, 11162463	Standard	NM_182946	NM_020921	NA	Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000530997.2:c.3814C>T	14.37:g.51223934G>A	ENSP00000436092:p.Arg1272Cys	NA	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.057|6.057	0.378912|0.378912	0.11466|0.11466	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	T;T;T;T|T;T	0.09538|0.14893	3.24;2.97;2.97;2.97|2.47;2.48	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.445379|.	0.23993|.	N|.	0.042559|.	T|T	0.21801|0.21801	0.0525|0.0525	L|L	0.38838|0.38838	1.175|1.175	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.19817|.	0.039;0.022;0.038;0.017|.	B;B;B;B|.	0.14578|.	0.007;0.007;0.007;0.011|.	T|T	0.13710|0.13710	-1.0499|-1.0499	10|7	0.54805|0.45353	T|T	0.06|0.12	-3.2342|-3.2342	12.9848|12.9848	0.58586|0.58586	0.0:0.0:0.8387:0.1613|0.0:0.0:0.8387:0.1613	.|.	1278;1272;1272;1272|.	Q8N4C6-5;C9J066;Q8N4C6;Q8N4C6-7|.	.;.;NIN_HUMAN;.|.	C|M	1272;1255;1278;1272;1272;1272|762	ENSP00000245441:R1272C;ENSP00000371472:R1272C;ENSP00000324210:R1272C;ENSP00000412391:R1272C|ENSP00000374519:T762M;ENSP00000433717:T762M	ENSP00000245441:R1272C|ENSP00000374519:T762M	R|T	-|-	1|2	0|0	NIN|NIN	50293684|50293684	0.009000|0.009000	0.17119|0.17119	0.305000|0.305000	0.25099|0.25099	0.015000|0.015000	0.08874|0.08874	1.696000|1.696000	0.37773|0.37773	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	CGC|ACG	NIN-017	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000395210.2		-	ENST00000530997.2	Missense_Mutation	SNP	14 : 51223934 - 51223934 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	947	193
MRGPRE	116534	broad.mit.edu	37	11	3249838	3249838	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3249838G>A	ENST00000389832.5	-	2	498	c.192C>T	c.(190-192)gaC>gaT	p.D64D	MRGPRE_ENST00000436689.2_Silent_p.D63D|AC109309.4_ENST00000418995.2_RNA			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	63						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGCAGGCCACGTCCAGGAGGT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	100	94			NA	NA	11		NA											NA				3249838		2124	4242	6366	SO:0001819	synonymous_variant			AY255572	CCDS41603.1, CCDS41603.2	11p15.5	2012-08-21	2004-03-25		ENSG00000184350	ENSG00000184350	116534	116534		GPCR / Class A : Orphans	30694	protein-coding gene	gene with protein product		607232	G protein-coupled receptor 167	GPR167	NA	11551509	Standard	XM_171536	NM_001039165	NA	Approved	mrgE	uc001lxq.5	Q86SM8	OTTHUMG00000011708	ENST00000389832.5:c.192C>T	11.37:g.3249838G>A		NA	Q2M1V7	37																																																																																				MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000032346.5		-	ENST00000389832.5	Silent	SNP	11 : 3249838 - 3249838 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	666	115
COL4A3	1285	broad.mit.edu	37	2	228158022	228158022	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228158022C>T	ENST00000396578.3	+	38	3488	c.3326C>T	c.(3325-3327)cCt>cTt	p.P1109L	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1109	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CCTGGAAGTCCTGGCCTCCCA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	51	49			NA	NA	2		NA											NA				228158022		1845	4081	5926	SO:0001583	missense				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031	1285	1285		Collagens	2204	protein-coding gene	gene with protein product	tumstatin	120070			NA	1737849	Standard	NM_000091	NM_000091	NA	Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.3326C>T	2.37:g.228158022C>T	ENSP00000379823:p.Pro1109Leu	NA	Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	37	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.159271	0.38119	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699;ENST00000304990	D;D	0.96885	-4.09;-4.16	5.73	4.81	0.61882	.	0.356519	0.24180	N	0.040801	D	0.96895	0.8986	M	0.80183	2.485	0.50039	D	0.999844	D;D;P;P	0.57257	0.979;0.979;0.944;0.954	P;P;P;P	0.52109	0.675;0.675;0.646;0.69	D	0.96731	0.9539	10	0.72032	D	0.01	.	13.3166	0.60411	0.0:0.841:0.159:0.0	.	1109;1109;1109;1109	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	L	1109;1109;1109;1109;1109;146	ENSP00000379823:P1109L;ENSP00000302781:P146L	ENSP00000302781:P146L	P	+	2	0	COL4A3	227866266	0.751000	0.28327	0.997000	0.53966	0.967000	0.64934	1.995000	0.40767	2.868000	0.98415	0.557000	0.71058	CCT	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331409.2		+	ENST00000396578.3	Missense_Mutation	SNP	2 : 228158022 - 228158022 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	258	59
THBD	7056	broad.mit.edu	37	20	23028870	23028870	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23028870G>T	ENST00000377103.2	-	1	1508	c.1272C>A	c.(1270-1272)agC>agA	p.S424R		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	424	EGF-like 5.				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	GGCACTCACAGCTAGCCTGGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	57	59			NA	NA	20		NA											NA				23028870		2203	4300	6503	SO:0001583	missense				CCDS13148.1	20p11.21	2014-09-17			ENSG00000178726	ENSG00000178726	7056	7056		CD molecules	11784	protein-coding gene	gene with protein product		188040			NA		Standard		NM_000361	NA	Approved	CD141	uc002wss.3	P07204	OTTHUMG00000032053	ENST00000377103.2:c.1272C>A	20.37:g.23028870G>T	ENSP00000366307:p.Ser424Arg	NA	Q8IV29|Q9UC32	37	CCDS13148.1	.	.	.	.	.	.	.	.	.	.	G	0.863	-0.734723	0.03111	.	.	ENSG00000178726	ENST00000377103;ENST00000503590	T	0.80033	-1.33	4.82	0.818	0.18778	Epidermal growth factor-like (1);Thrombomodulin-like, EGF-like (1);	3.352840	0.01083	N	0.005028	T	0.67887	0.2941	L	0.40543	1.245	0.09310	N	0.999991	B	0.33755	0.424	B	0.23018	0.043	T	0.49753	-0.8906	10	0.13470	T	0.59	1.1772	4.183	0.10385	0.313:0.0:0.531:0.156	.	424	P07204	TRBM_HUMAN	R	424;406	ENSP00000366307:S424R	ENSP00000366307:S424R	S	-	3	2	THBD	22976870	0.015000	0.18098	0.003000	0.11579	0.004000	0.04260	0.108000	0.15396	-0.124000	0.11724	0.561000	0.74099	AGC	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078307.2		-	ENST00000377103.2	Missense_Mutation	SNP	20 : 23028870 - 23028870 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	484	67
NELFCD	51497	broad.mit.edu	37	20	57567047	57567047	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57567047G>T	ENST00000602795.1	+	10	1303	c.1255G>T	c.(1255-1257)Gaa>Taa	p.E419*	NELFCD_ENST00000479207.1_3'UTR|NELFCD_ENST00000344018.3_Nonsense_Mutation_p.E410*	NM_198976.2	NP_945327.2			negative elongation factor complex member C/D	NA											NA						ACTAGTGGCAGAATTGAGCAC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	140	143			NA	NA	20		NA											NA				57567047		2203	4300	6503	SO:0001587	stop_gained			AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158	51497	51497			15934	protein-coding gene	gene with protein product	trihydrophobin 1	605297	TH1-like (Drosophila homolog), TH1-like (Drosophila)	TH1L	NA	11030415, 11042152	Standard	NM_198976	NM_198976	NA	Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000602795.1:c.1255G>T	20.37:g.57567047G>T	ENSP00000473290:p.Glu419*	NA		37	CCDS13473.2	.	.	.	.	.	.	.	.	.	.	G	37	6.531514	0.97641	.	.	ENSG00000101158	ENST00000344018	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-37.6074	19.4217	0.94725	0.0:0.0:1.0:0.0	.	.	.	.	X	410	.	ENSP00000342300:E410X	E	+	1	0	TH1L	57000442	1.000000	0.71417	0.290000	0.24890	0.971000	0.66376	9.701000	0.98710	2.605000	0.88082	0.655000	0.94253	GAA	NELFCD-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079909.3		+	ENST00000602795.1	Nonsense_Mutation	SNP	20 : 57567047 - 57567047 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	434	65
CHD4	1108	broad.mit.edu	37	12	6707221	6707221	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6707221C>T	ENST00000544484.1	-	12	1868	c.1722G>A	c.(1720-1722)aaG>aaA	p.K574K	CHD4_ENST00000357008.2_Silent_p.K577K|CHD4_ENST00000309577.6_Silent_p.K577K|CHD4_ENST00000544040.1_Silent_p.K570K			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	577	Chromo 1.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CCATATCATTCTTCCGCTGAT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(32;586 792 4568 16848 45314)							NA				0													155	156	155			NA	NA	12		NA											NA				6707221		2203	4300	6503	SO:0001819	synonymous_variant			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642	1108	1108		Zinc fingers, PHD-type	1919	protein-coding gene	gene with protein product		603277			NA	7575689, 8843877	Standard	NM_001273	XM_006718958	NA	Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000544484.1:c.1722G>A	12.37:g.6707221C>T		NA	Q8IXZ5	37																																																																																				CHD4-013	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000402631.1		-	ENST00000544484.1	Silent	SNP	12 : 6707221 - 6707221 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1073	222
STRIP2	57464	broad.mit.edu	37	7	129107205	129107205	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:129107205G>A	ENST00000249344.2	+	17	1831	c.1791G>A	c.(1789-1791)tcG>tcA	p.S597S	STRIP2_ENST00000435494.2_Silent_p.S597S	NM_020704.2	NP_065755.1			striatin interacting protein 2	NA											NA						AATATGTATCGCAACATTTGG	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	98	100			NA	NA	7		NA											NA				129107205		2203	4300	6503	SO:0001819	synonymous_variant			AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578	57464	57464			22209	protein-coding gene	gene with protein product	FAR11 factor arrest 11 homolog B (yeast)		family with sequence similarity 40, member B	FAM40B	NA	22782902, 22298706, 18782753	Standard	NM_001134336	NM_020704	NA	Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.1791G>A	7.37:g.129107205G>A		NA		37	CCDS34752.1																																																																																			STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349418.1		+	ENST00000249344.2	Silent	SNP	7 : 129107205 - 129107205 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	214	41
SRP68	6730	broad.mit.edu	37	17	74057202	74057202	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74057202G>T	ENST00000539137.1	-	5	644	c.629C>A	c.(628-630)gCa>gAa	p.A210E	SRP68_ENST00000355113.5_Missense_Mutation_p.A147E|SRP68_ENST00000307877.2_Missense_Mutation_p.A248E	NM_001260502.1	NP_001247431.1	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	248					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						AATATTATATGCACAATAGCG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													198	184	189			NA	NA	17		NA											NA				74057202		2203	4300	6503	SO:0001583	missense			AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881	6730	6730			11302	protein-coding gene	gene with protein product		604858	signal recognition particle 68kD		NA	10618370	Standard	NM_014230	NM_014230	NA	Approved		uc002jqk.2	Q9UHB9		ENST00000539137.1:c.629C>A	17.37:g.74057202G>T	ENSP00000446136:p.Ala210Glu	NA	Q8NCJ4|Q8WUK2	37	CCDS58601.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566004	0.86439	.	.	ENSG00000167881	ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220;ENST00000355113	T;T;T	0.29917	1.55;1.55;1.55	5.36	4.37	0.52481	Tetratricopeptide-like helical (1);	0.045681	0.85682	N	0.000000	T	0.52901	0.1763	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.52117	-0.8618	10	0.35671	T	0.21	-10.5003	15.5106	0.75779	0.0:0.0:0.8604:0.1396	.	210;248	G3V1U4;Q9UHB9	.;SRP68_HUMAN	E	210;248;248;248;147	ENSP00000446136:A210E;ENSP00000312066:A248E;ENSP00000347233:A147E	ENSP00000307756:A248E	A	-	2	0	SRP68	71568797	1.000000	0.71417	0.852000	0.33557	0.950000	0.60333	7.903000	0.87398	1.361000	0.45981	0.462000	0.41574	GCA	SRP68-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449491.1		-	ENST00000539137.1	Missense_Mutation	SNP	17 : 74057202 - 74057202 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	873	149
CCDC141	285025	broad.mit.edu	37	2	179720079	179720079	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179720079C>T	ENST00000420890.2	-	19	3172	c.3055G>A	c.(3055-3057)Gaa>Aaa	p.E1019K	CCDC141_ENST00000295723.5_Missense_Mutation_p.E444K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	444							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AATACCTCTTCTATCACCTCC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	94	97			NA	NA	2		NA											NA				179720079		2203	4300	6503	SO:0001583	missense			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492	285025	285025		Immunoglobulin superfamily / Immunoglobulin-like domain containing	26821	protein-coding gene	gene with protein product	coiled-coil protein associated with myosin II and DISC1				NA	20956536	Standard	NM_173648	NM_173648	NA	Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3055G>A	2.37:g.179720079C>T	ENSP00000395995:p.Glu1019Lys	NA	Q8N8H3	37		.	.	.	.	.	.	.	.	.	.	C	23.9	4.470620	0.84533	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.36520	1.25;1.25;1.25	5.09	5.09	0.68999	.	0.000000	0.52532	D	0.000061	T	0.44414	0.1292	L	0.34521	1.04	0.35372	D	0.789158	D	0.65815	0.995	P	0.60173	0.87	T	0.52487	-0.8569	10	0.42905	T	0.14	-26.2853	14.1615	0.65450	0.0:0.9256:0.0:0.0744	.	444	Q6ZP82	CC141_HUMAN	K	1019;463;444	ENSP00000395995:E1019K;ENSP00000344627:E463K;ENSP00000295723:E444K	ENSP00000295723:E444K	E	-	1	0	CCDC141	179428324	1.000000	0.71417	0.999000	0.59377	0.838000	0.47535	3.896000	0.56266	2.518000	0.84900	0.655000	0.94253	GAA	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding			-	ENST00000420890.2	Missense_Mutation	SNP	2 : 179720079 - 179720079 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	403	46
NID1	4811	broad.mit.edu	37	1	236212087	236212087	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236212087G>A	ENST00000264187.6	-	2	510	c.428C>T	c.(427-429)cCg>cTg	p.P143L	NID1_ENST00000366595.3_Missense_Mutation_p.P143L	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	143	NIDO.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	AGAGATCTCCGGGAACCCTCT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	LEU/PRO	0,4406		0,0,2203	59	61	60		428	3.9	0.9	1		60	4,8596	3.7+/-12.6	0,4,4296	yes	missense	NID1	NM_002508.2	98	0,4,6499	AA,AG,GG	NA	0.0465,0.0,0.0308	probably-damaging	143/1248	236212087	4,13002	2203	4300	6503	SO:0001583	missense			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962	4811	4811			7821	protein-coding gene	gene with protein product		131390	nidogen (enactin)	NID	NA	2471408, 7557988	Standard	NM_002508	NM_002508	NA	Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.428C>T	1.37:g.236212087G>A	ENSP00000264187:p.Pro143Leu	NA	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	37	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257823	0.59321	0.0	4.65E-4	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.23348	1.91;1.91	4.81	3.9	0.45041	Nidogen, extracellular domain (2);	0.000000	0.85682	D	0.000000	T	0.51753	0.1693	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.91635	0.999;0.817	T	0.57991	-0.7715	10	0.66056	D	0.02	.	13.0868	0.59146	0.0774:0.0:0.9226:0.0	.	143;143	P14543-2;P14543	.;NID1_HUMAN	L	143	ENSP00000264187:P143L;ENSP00000355554:P143L	ENSP00000264187:P143L	P	-	2	0	NID1	234278710	1.000000	0.71417	0.862000	0.33874	0.736000	0.42039	6.526000	0.73799	1.255000	0.44051	0.655000	0.94253	CCG	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096647.2		-	ENST00000264187.6	Missense_Mutation	SNP	1 : 236212087 - 236212087 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	327	92
UBN2	254048	broad.mit.edu	37	7	138936758	138936758	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138936758C>A	ENST00000473989.3	+	3	618	c.618C>A	c.(616-618)ggC>ggA	p.G206G	UBN2_ENST00000288561.8_Silent_p.G123G	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	NA										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TTGATATAGGCTTTGGCTATG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	122	123			NA	NA	7		NA											NA				138936758		1841	4078	5919	SO:0001819	synonymous_variant			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741	254048	254048			21931	protein-coding gene	gene with protein product		613841			NA	19029251	Standard	NM_173569	NM_173569	NA	Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.618C>A	7.37:g.138936758C>A		NA	A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	37	CCDS43655.2																																																																																			UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349272.3		+	ENST00000473989.3	Silent	SNP	7 : 138936758 - 138936758 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	471	82
CDK15	65061	broad.mit.edu	37	2	202744820	202744820	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202744820C>A	ENST00000450471.2	+	12	1214	c.1128C>A	c.(1126-1128)gtC>gtA	p.V376V	CDK15_ENST00000434439.1_Silent_p.V376V|CDK15_ENST00000260967.2_Silent_p.V325V|CDK15_ENST00000374598.4_Silent_p.V376V|CDK15_ENST00000410091.3_Silent_p.V325V	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	376	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	GAGACCGCGTCTCCGCCCAGG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	77	80			NA	NA	2		NA											NA				202744820		2203	4300	6503	SO:0001819	synonymous_variant			AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395	65061	65061		Cyclin-dependent kinases	14434	protein-coding gene	gene with protein product			amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7, PFTAIRE protein kinase 2	ALS2CR7, PFTK2	NA	11586298, 16236519, 19884882	Standard		NM_139158	NA	Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000450471.2:c.1128C>A	2.37:g.202744820C>A		NA	A8K8R9|B8ZZX0|C9J1N8|C9K003|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	37	CCDS58747.1																																																																																			CDK15-006	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336053.2		+	ENST00000450471.2	Silent	SNP	2 : 202744820 - 202744820 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	302	63
ARHGAP11A	9824	broad.mit.edu	37	15	32929721	32929721	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:32929721T>G	ENST00000543522.1	+	13	2769	c.2180T>G	c.(2179-2181)aTt>aGt	p.I727S	ARHGAP11A_ENST00000361627.3_Missense_Mutation_p.I916S|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.I727S			Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	916					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		ATTGGTGCAATTTCAAAGTCA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(45;757 1134 30003 36652)							NA				0													98	99	98			NA	NA	15		NA											NA				32929721		2201	4300	6501	SO:0001583	missense			D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826	9824	9824		Rho GTPase activating proteins	15783	protein-coding gene	gene with protein product	GAP (1-12)	610589			NA	11829490	Standard	NM_014783	NM_199357	NA	Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000543522.1:c.2180T>G	15.37:g.32929721T>G	ENSP00000440073:p.Ile727Ser	NA	Q6PI96|Q9Y3S6	37		.	.	.	.	.	.	.	.	.	.	T	2.592	-0.295039	0.05532	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	T	0.10860	2.83	4.55	0.908	0.19326	.	0.936787	0.08882	N	0.879885	T	0.12050	0.0293	L	0.57536	1.79	0.09310	N	1	B	0.23442	0.085	B	0.22386	0.039	T	0.32295	-0.9912	10	0.66056	D	0.02	.	6.3575	0.21410	0.0:0.3165:0.0:0.6834	.	916	Q6P4F7	RHGBA_HUMAN	S	916;727	ENSP00000355090:I916S	ENSP00000355090:I916S	I	+	2	0	ARHGAP11A	30717013	0.275000	0.24201	0.015000	0.15790	0.020000	0.10135	0.298000	0.19120	0.283000	0.22279	0.482000	0.46254	ATT	ARHGAP11A-005	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000429865.1		+	ENST00000543522.1	Missense_Mutation	SNP	15 : 32929721 - 32929721 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	493	79
ARHGEF37	389337	broad.mit.edu	37	5	149006811	149006811	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149006811G>A	ENST00000333677.6	+	11	1800	c.1637G>A	c.(1636-1638)gGc>gAc	p.G546D		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	546	SH3 1.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GGCAACAGCGGCCGCTGGCTG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	76	72			NA	NA	5		NA											NA				149006811		2049	4172	6221	SO:0001583	missense			BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111	389337	389337		Rho guanine nucleotide exchange factors	34430	protein-coding gene	gene with protein product					NA		Standard	NM_001001669	XM_005268448	NA	Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.1637G>A	5.37:g.149006811G>A	ENSP00000328083:p.Gly546Asp	NA	Q6ZW51	37	CCDS43385.1	.	.	.	.	.	.	.	.	.	.	G	7.143	0.582229	0.13749	.	.	ENSG00000183111	ENST00000333677	T	0.09073	3.02	5.11	2.38	0.29361	Src homology-3 domain (2);Variant SH3 (1);	0.568279	0.20454	N	0.092025	T	0.05593	0.0147	N	0.21448	0.665	0.09310	N	1	B	0.14012	0.009	B	0.18871	0.023	T	0.37572	-0.9700	10	0.31617	T	0.26	.	7.7404	0.28837	0.3962:0.0:0.6038:0.0	.	546	A1IGU5	ARH37_HUMAN	D	546	ENSP00000328083:G546D	ENSP00000328083:G546D	G	+	2	0	ARHGEF37	148987004	0.037000	0.19845	0.505000	0.27651	0.702000	0.40608	1.513000	0.35823	0.573000	0.29400	-0.221000	0.12465	GGC	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373763.1		+	ENST00000333677.6	Missense_Mutation	SNP	5 : 149006811 - 149006811 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	648	110
KCNK13	56659	broad.mit.edu	37	14	90650476	90650476	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90650476C>T	ENST00000282146.4	+	2	797	c.356C>T	c.(355-357)gCg>gTg	p.A119V		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	119						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				ACAACTCCGGCGACAGTAGGA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	101	99			NA	NA	14		NA											NA				90650476		2203	4300	6503	SO:0001583	missense			AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315	56659	56659		Potassium channels, Voltage-gated ion channels / Potassium channels, Two-P	6275	protein-coding gene	gene with protein product		607367			NA	11060316, 16382106	Standard	NM_022054	NM_022054	NA	Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.356C>T	14.37:g.90650476C>T	ENSP00000282146:p.Ala119Val	NA	Q96E79	37	CCDS9889.1	.	.	.	.	.	.	.	.	.	.	C	0.138	-1.105386	0.01828	.	.	ENSG00000152315	ENST00000282146	T	0.21031	2.03	5.31	4.41	0.53225	Ion transport 2 (1);	0.178360	0.27284	N	0.020073	T	0.12518	0.0304	N	0.12443	0.215	0.58432	D	0.999999	B	0.15473	0.013	B	0.15484	0.013	T	0.11155	-1.0599	10	0.23891	T	0.37	.	14.3161	0.66452	0.0:0.9266:0.0:0.0734	.	119	Q9HB14	KCNKD_HUMAN	V	119	ENSP00000282146:A119V	ENSP00000282146:A119V	A	+	2	0	KCNK13	89720229	0.882000	0.30256	0.105000	0.21289	0.026000	0.11368	1.759000	0.38420	2.476000	0.83614	0.655000	0.94253	GCG	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411251.1		+	ENST00000282146.4	Missense_Mutation	SNP	14 : 90650476 - 90650476 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	613	118
PLSCR2	57047	broad.mit.edu	37	3	146173186	146173186	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:146173186A>G	ENST00000497985.1	-	6	819	c.380T>C	c.(379-381)aTt>aCt	p.I127T	PLSCR2_ENST00000336685.2_Missense_Mutation_p.I54T	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	54					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TGCAAAATAAATCCTCTGCCC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	106	104			NA	NA	3		NA											NA				146173186		2203	4300	6503	SO:0001583	missense				CCDS56284.1, CCDS3134.1, CCDS75029.1	3q24	2008-07-18			ENSG00000163746	ENSG00000163746	57047	57047			16494	protein-coding gene	gene with protein product		607610			NA	10930526	Standard	NM_020359	NM_001199978	NA	Approved		uc003evw.2	Q9NRY7	OTTHUMG00000159429	ENST00000497985.1:c.380T>C	3.37:g.146173186A>G	ENSP00000420132:p.Ile127Thr	NA	Q0VAQ1|Q6NSW9	37	CCDS56284.1	.	.	.	.	.	.	.	.	.	.	.	21.2	4.117965	0.77323	.	.	ENSG00000163746	ENST00000336685;ENST00000535500;ENST00000497985;ENST00000489015	T;T;T	0.25912	1.77;1.77;1.77	3.1	3.1	0.35709	.	0.167404	0.24012	U	0.042371	T	0.46964	0.1420	M	0.85462	2.755	0.25922	N	0.983107	P;P	0.46578	0.88;0.772	P;B	0.54544	0.755;0.345	T	0.43228	-0.9404	10	0.87932	D	0	.	12.3575	0.55184	1.0:0.0:0.0:0.0	.	147;54	Q7Z4L7;Q9NRY7	.;PLS2_HUMAN	T	54;146;127;54	ENSP00000338707:I54T;ENSP00000420132:I127T;ENSP00000418444:I54T	ENSP00000338707:I54T	I	-	2	0	PLSCR2	147655876	0.945000	0.32115	0.003000	0.11579	0.862000	0.49288	8.654000	0.91092	1.653000	0.50694	0.455000	0.32223	ATT	PLSCR2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355264.1		-	ENST00000497985.1	Missense_Mutation	SNP	3 : 146173186 - 146173186 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	587	99
PALM2-AKAP2	445815	broad.mit.edu	37	9	112898709	112898709	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112898709C>A	ENST00000374530.3	+	8	1065	c.885C>A	c.(883-885)tgC>tgA	p.C295*	PALM2-AKAP2_ENST00000302798.7_Nonsense_Mutation_p.C295*|AKAP2_ENST00000434623.2_Nonsense_Mutation_p.C153*|AKAP2_ENST00000259318.7_Nonsense_Mutation_p.C64*|AKAP2_ENST00000374525.1_Nonsense_Mutation_p.C153*|AKAP2_ENST00000510514.5_Nonsense_Mutation_p.C295*|AKAP2_ENST00000555236.1_Nonsense_Mutation_p.C295*	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN	PALM2-AKAP2 readthrough	64							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						AGGCCAACTGCTGTGATTCTG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	125	136			NA	NA	9		NA											NA				112898709		2203	4300	6503	SO:0001587	stop_gained			AB023137	CCDS35100.1, CCDS35101.1	9q31.3	2010-02-17			ENSG00000157654	ENSG00000157654	445815	445815			33529	other	readthrough					NA	11478809	Standard		NM_147150	NA	Approved		uc004bej.4		OTTHUMG00000156812	ENST00000374530.3:c.885C>A	9.37:g.112898709C>A	ENSP00000363654:p.Cys295*	NA	B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	37	CCDS35100.1	.	.	.	.	.	.	.	.	.	.	C	37	6.090318	0.97271	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	.	.	.	6.17	4.33	0.51752	.	0.149906	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.09	9.7747	0.40612	0.0:0.7342:0.0:0.2658	.	.	.	.	X	295;295;295;295;153;153;113;64	.	ENSP00000259318:C64X	C	+	3	2	PALM2-AKAP2;AKAP2	111938530	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.780000	0.26760	1.633000	0.50488	0.655000	0.94253	TGC	PALM2-AKAP2-001	KNOWN	basic|appris_candidate_longest|readthrough_transcript|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053603.1		+	ENST00000374530.3	Nonsense_Mutation	SNP	9 : 112898709 - 112898709 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	592	93
ZNF774	342132	broad.mit.edu	37	15	90904469	90904469	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90904469G>A	ENST00000379090.5	+	4	302				ZNF774_ENST00000354377.3_Missense_Mutation_p.R469H			Q6NX45	ZN774_HUMAN	zinc finger protein 774	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAGAGCTTCCGTCAGAAAGCG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	0,4398		0,0,2199	90	91	91		1406	-3.2	0.1	15		91	1,8595	1.2+/-3.3	0,1,4297	no	missense	ZNF774	NM_001004309.2	29	0,1,6496	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	469/484	90904469	1,12993	2199	4298	6497	SO:0001627	intron_variant			BC067279	CCDS32330.1	15q26.1	2013-01-08				ENSG00000196391	342132	342132		Zinc fingers, C2H2-type	33108	protein-coding gene	gene with protein product					NA		Standard	NM_001004309	NM_001004309	NA	Approved	MGC75360	uc002bpk.4	Q6NX45		ENST00000379090.5:c.212-1308G>A	15.37:g.90904469G>A		NA	A8K020	37		.	.	.	.	.	.	.	.	.	.	G	16.07	3.019029	0.54576	0.0	1.16E-4	ENSG00000196391	ENST00000354377	T	0.18016	2.24	5.86	-3.2	0.05156	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33438	U	0.004915	T	0.24122	0.0584	M	0.62016	1.91	0.39717	D	0.97141	D	0.76494	0.999	D	0.65773	0.938	T	0.25779	-1.0122	10	0.54805	T	0.06	.	1.1591	0.01802	0.4239:0.1154:0.2257:0.2349	.	469	Q6NX45	ZN774_HUMAN	H	469	ENSP00000346348:R469H	ENSP00000346348:R469H	R	+	2	0	ZNF774	88705473	0.000000	0.05858	0.122000	0.21767	0.870000	0.49936	0.565000	0.23578	-0.543000	0.06240	-0.244000	0.11960	CGT	ZNF774-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000418051.1		+	ENST00000379090.5	Intron	SNP	15 : 90904469 - 90904469 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	484	124
FBXO11	80204	broad.mit.edu	37	2	48037464	48037464	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48037464A>G	ENST00000403359.3	-	19	2401	c.2329T>C	c.(2329-2331)Ttt>Ctt	p.F777L	FBXO11_ENST00000434523.2_Missense_Mutation_p.F201L|FBXO11_ENST00000316377.4_Missense_Mutation_p.F693L|FBXO11_ENST00000402508.1_Missense_Mutation_p.F693L	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	777					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCTGCGGCAAATCCATCAAAT	0.333		NA	Mis, F, D		DLBCL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		2	2p16.3	80204	F-box protein 11		L	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											76	75	76			NA	NA	2		NA											NA				48037464		2203	4300	6503	SO:0001583	missense			AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081	80204	80204		Ubiquitin protein ligase E3 component n-recognins, F-boxes /  other	13590	protein-coding gene	gene with protein product	ubiquitin protein ligase E3 component n-recognin 6	607871	F-box only protein 11		NA	10531035, 16487488, 18162545	Standard	NM_012167, NM_018693, NM_025133	NM_025133	NA	Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.2329T>C	2.37:g.48037464A>G	ENSP00000384823:p.Phe777Leu	NA	Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	37	CCDS54357.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.691405	0.48097	.	.	ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377;ENST00000434523	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	N	0.04245	-0.25	0.80722	D	1	B	0.29862	0.259	P	0.55871	0.786	T	0.76547	-0.2919	10	0.27785	T	0.31	-2.8193	16.8061	0.85666	1.0:0.0:0.0:0.0	.	201	B3KUR1	.	L	693;777;693;201	ENSP00000385398:F693L;ENSP00000384823:F777L;ENSP00000323822:F693L;ENSP00000397359:F201L	ENSP00000323822:F693L	F	-	1	0	FBXO11	47890968	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.307000	0.96226	2.367000	0.80283	0.528000	0.53228	TTT	FBXO11-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251181.3		-	ENST00000403359.3	Missense_Mutation	SNP	2 : 48037464 - 48037464 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	184	28
PALM2-AKAP2	445815	broad.mit.edu	37	9	112900226	112900226	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112900226C>A	ENST00000374530.3	+	8	2582	c.2402C>A	c.(2401-2403)gCt>gAt	p.A801D	PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A801D|AKAP2_ENST00000434623.2_Missense_Mutation_p.A659D|AKAP2_ENST00000259318.7_Missense_Mutation_p.A570D|AKAP2_ENST00000374525.1_Missense_Mutation_p.A659D|AKAP2_ENST00000510514.5_Missense_Mutation_p.A801D|AKAP2_ENST00000555236.1_Missense_Mutation_p.A801D	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN	PALM2-AKAP2 readthrough	570							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GAGTATCAGGCTGGCCTCCTG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	39	39			NA	NA	9		NA											NA				112900226		2203	4300	6503	SO:0001583	missense			AB023137	CCDS35100.1, CCDS35101.1	9q31.3	2010-02-17			ENSG00000157654	ENSG00000157654	445815	445815			33529	other	readthrough					NA	11478809	Standard		NM_147150	NA	Approved		uc004bej.4		OTTHUMG00000156812	ENST00000374530.3:c.2402C>A	9.37:g.112900226C>A	ENSP00000363654:p.Ala801Asp	NA	B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	37	CCDS35100.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912078	0.72983	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.58940	1.63;1.65;1.63;1.65;0.87;0.32;0.3;0.94	5.95	5.95	0.96441	RII binding domain (1);	0.000000	0.85682	D	0.000000	T	0.77032	0.4071	M	0.70275	2.135	0.58432	D	0.999999	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	D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;1.0;0.998;0.998;0.997	T	0.77747	-0.2472	10	0.87932	D	0	-20.6001	19.3768	0.94514	0.0:1.0:0.0:0.0	.	570;659;653;659;660;801;801;619	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	D	801;801;801;801;659;659;619;570	ENSP00000363654:A801D;ENSP00000305861:A801D;ENSP00000451476:A801D;ENSP00000421522:A801D;ENSP00000404782:A659D;ENSP00000363649:A659D;ENSP00000419268:A619D;ENSP00000259318:A570D	ENSP00000259318:A570D	A	+	2	0	PALM2-AKAP2;AKAP2	111940047	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.121000	0.77160	2.810000	0.96702	0.650000	0.86243	GCT	PALM2-AKAP2-001	KNOWN	basic|appris_candidate_longest|readthrough_transcript|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053603.1		+	ENST00000374530.3	Missense_Mutation	SNP	9 : 112900226 - 112900226 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	196	34
PAICS	10606	broad.mit.edu	37	4	57325540	57325540	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57325540C>A	ENST00000514888.1	+	10	1353	c.838C>A	c.(838-840)Ctt>Att	p.L280I	PAICS_ENST00000264221.2_Missense_Mutation_p.L372I|PAICS_ENST00000399688.3_Missense_Mutation_p.L379I|PAICS_ENST00000512576.1_Missense_Mutation_p.L372I			P22234	PUR6_HUMAN	phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase	372	AIR carboxylase.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|identical protein binding|phosphoribosylaminoimidazole carboxylase activity|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity			endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5	Glioma(25;0.08)|all_neural(26;0.101)				L-Aspartic Acid(DB00128)	ACCAATAGGTCTTGGCTGTTC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(53;429 1144 8755 40726)							NA				0													74	64	67			NA	NA	4		NA											NA				57325540		1858	4096	5954	SO:0001583	missense			X53793	CCDS47060.1, CCDS47061.1	4q12	2012-07-13			ENSG00000128050	ENSG00000128050	10606	10606	4.1.1.21, 6.3.2.6		8587	protein-coding gene	gene with protein product		172439		PAIS	NA	2253271, 8106516	Standard	NM_006452	NM_006452	NA	Approved	ADE2H1, AIRC	uc003hbt.1	P22234	OTTHUMG00000160957	ENST00000514888.1:c.838C>A	4.37:g.57325540C>A	ENSP00000424907:p.Leu280Ile	NA	E9PDH9|Q68CQ5	37		.	.	.	.	.	.	.	.	.	.	C	15.13	2.742328	0.49151	.	.	ENSG00000128050	ENST00000514888;ENST00000264221;ENST00000505164;ENST00000399688;ENST00000512576	T;T;T;T;T	0.38401	1.15;1.15;1.14;1.15;1.15	5.05	2.22	0.28083	Phosphoribosylaminoimidazole carboxylase, core (4);	0.194207	0.46145	N	0.000319	T	0.25606	0.0623	N	0.17838	0.53	0.51482	D	0.999922	B;B;B	0.26445	0.149;0.002;0.149	B;B;B	0.33960	0.173;0.009;0.173	T	0.05257	-1.0896	10	0.38643	T	0.18	-5.3966	10.9869	0.47526	0.1347:0.5904:0.2749:0.0	.	372;379;372	E9PBS1;P22234-2;P22234	.;.;PUR6_HUMAN	I	280;372;372;379;372	ENSP00000424907:L280I;ENSP00000264221:L372I;ENSP00000424053:L372I;ENSP00000382595:L379I;ENSP00000421096:L372I	ENSP00000264221:L372I	L	+	1	0	PAICS	57020297	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	3.515000	0.53429	0.191000	0.20236	0.585000	0.79938	CTT	PAICS-002	NOVEL	alternative_5_UTR|basic	protein_coding	NA	protein_coding	OTTHUMT00000363132.2		+	ENST00000514888.1	Missense_Mutation	SNP	4 : 57325540 - 57325540 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	144	22
INSC	387755	broad.mit.edu	37	11	15134052	15134052	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:15134052G>A	ENST00000379554.3	+	1	83	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K		NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	13					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GGCGGCCAGCGAAGGTCCAGG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	67	62			NA	NA	11		NA											NA				15134052		2000	4145	6145	SO:0001583	missense			AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487	387755	387755			33116	protein-coding gene	gene with protein product	inscuteable spindle orientation adaptor protein	610668			NA	16458856	Standard	NM_001031853	NM_001031853	NA	Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.37G>A	11.37:g.15134052G>A	ENSP00000368872:p.Glu13Lys	NA	Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	37	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	g	0.155	-1.086815	0.01873	.	.	ENSG00000188487	ENST00000379554	T	0.35421	1.31	3.54	-3.24	0.05094	.	.	.	.	.	T	0.14874	0.0359	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20338	-1.0278	9	0.30078	T	0.28	0.161	5.1726	0.15118	0.4866:0.1524:0.361:0.0	.	13	Q1MX18	INSC_HUMAN	K	13	ENSP00000368872:E13K	ENSP00000368872:E13K	E	+	1	0	INSC	15090628	0.000000	0.05858	0.003000	0.11579	0.025000	0.11179	-0.209000	0.09358	-0.708000	0.05015	-1.975000	0.00460	GAA	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386590.1		+	ENST00000379554.3	Missense_Mutation	SNP	11 : 15134052 - 15134052 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	290	39
HLCS	3141	broad.mit.edu	37	21	38309528	38309528	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38309528G>T	ENST00000399120.1	-	5	1447	c.217C>A	c.(217-219)Ccc>Acc	p.P73T	HLCS_ENST00000336648.4_Missense_Mutation_p.P73T	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	73					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CTTTGTTTGGGTTCTTCACCA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	78	82			NA	NA	21		NA											NA				38309528		2203	4300	6503	SO:0001583	missense				CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	3141	3141	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase), holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)		NA	7842009	Standard		NM_000411	NA	Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.217C>A	21.37:g.38309528G>T	ENSP00000382071:p.Pro73Thr	NA	D3DSG6|Q99451	37	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	G	8.135	0.783937	0.16189	.	.	ENSG00000159267	ENST00000399120;ENST00000336648;ENST00000448340;ENST00000419461;ENST00000427746	D;D	0.97976	-4.64;-4.64	5.0	-9.6	0.00553	.	0.833571	0.10862	N	0.625967	D	0.92580	0.7643	L	0.53249	1.67	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.81037	-0.1114	10	0.34782	T	0.22	.	1.0272	0.01530	0.436:0.1744:0.1271:0.2625	.	73;73	B2RAH1;P50747	.;BPL1_HUMAN	T	73	ENSP00000382071:P73T;ENSP00000338387:P73T	ENSP00000338387:P73T	P	-	1	0	HLCS	37231398	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.400000	0.07241	-1.709000	0.01399	-0.137000	0.14449	CCC	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000194687.2		-	ENST00000399120.1	Missense_Mutation	SNP	21 : 38309528 - 38309528 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	409	40
AARS2	57505	broad.mit.edu	37	6	44274124	44274124	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44274124G>T	ENST00000244571.4	-	9	1195	c.1193C>A	c.(1192-1194)gCc>gAc	p.A398D	RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	398					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CACCAGGTTGGCGATCTGAAC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	121	124			NA	NA	6		NA											NA				44274124		2203	4300	6503	SO:0001583	missense			AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	57505	57505	6.1.1.7	Aminoacyl tRNA synthetases / Class II	21022	protein-coding gene	gene with protein product	alanine tRNA ligase 2, mitochondrial	612035	alanyl-tRNA synthetase like, alanyl-tRNA synthetase 2, mitochondrial (putative)	AARSL	NA	15779907, 21549344	Standard	NM_020745	NM_020745	NA	Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.1193C>A	6.37:g.44274124G>T	ENSP00000244571:p.Ala398Asp	NA	A2RRN5|Q8N198|Q96D02|Q9ULF0	37	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382178	0.24944	.	.	ENSG00000124608	ENST00000244571	T	0.72167	-0.63	4.27	1.43	0.22495	Alanyl-tRNA synthetase, class IIc, anti-codon-binding domain (1);Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.445087	0.24960	N	0.034237	T	0.41743	0.1172	L	0.45581	1.43	0.23120	N	0.998261	P	0.43542	0.81	P	0.46629	0.522	T	0.32955	-0.9887	10	0.14656	T	0.56	-3.1415	3.9844	0.09509	0.4692:0.0:0.3673:0.1635	.	398	Q5JTZ9	SYAM_HUMAN	D	398	ENSP00000244571:A398D	ENSP00000244571:A398D	A	-	2	0	AARS2	44382102	0.098000	0.21812	0.833000	0.33012	0.012000	0.07955	1.033000	0.30191	0.462000	0.27095	0.561000	0.74099	GCC	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040741.2		-	ENST00000244571.4	Missense_Mutation	SNP	6 : 44274124 - 44274124 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	955	176
AKT1	207	broad.mit.edu	37	14	105258975	105258975	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105258975G>A	ENST00000554581.1	-	1	1486	c.6C>T	c.(4-6)agC>agT	p.S2S	AKT1_ENST00000407796.2_Silent_p.S2S|AKT1_ENST00000402615.2_Silent_p.S2S|AKT1_ENST00000554848.1_Silent_p.S2S|AKT1_ENST00000555528.1_Silent_p.S2S|AKT1_ENST00000349310.3_Silent_p.S2S			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	2					activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TAGCCACGTCGCTCATGGTGC	0.672		1	Mis		breast, colorectal, ovarian, NSCLC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		14	14q32.32	207	v-akt murine thymoma viral oncogene homolog 1		E	0								G	,,	1,4405	2.1+/-5.4	0,1,2202	107	92	97		6,6,6	0.6	1	14		97	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	AKT1	NM_001014431.1,NM_001014432.1,NM_005163.2	,,	0,1,6501	AA,AG,GG	NA	0.0,0.0227,0.0077	,,	2/481,2/481,2/481	105258975	1,13003	2203	4299	6502	SO:0001819	synonymous_variant			M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	207	207	2.7.11.1	Pleckstrin homology (PH) domain containing	391	protein-coding gene	gene with protein product		164730			NA		Standard	NM_005163	XM_005267401	NA	Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.6C>T	14.37:g.105258975G>A		NA	B2RAM5|Q9BWB6	37	CCDS9994.1																																																																																			AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410418.1		-	ENST00000554581.1	Silent	SNP	14 : 105258975 - 105258975 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	699	58
ASCC2	84164	broad.mit.edu	37	22	30212055	30212055	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30212055G>T	ENST00000397771.2	-	7	726	c.549C>A	c.(547-549)atC>atA	p.I183I	ASCC2_ENST00000307790.3_Silent_p.I183I|ASCC2_ENST00000478812.1_5'UTR|ASCC2_ENST00000542393.1_Silent_p.I107I			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GCTGTGTAAAGATGTTTCCTA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	98	103			NA	NA	22		NA											NA				30212055		2203	4299	6502	SO:0001819	synonymous_variant			AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325	84164	84164			24103	protein-coding gene	gene with protein product	ASC 1 complex subunit P100	614216			NA	12077347, 9847074	Standard	NM_032204	NM_032204	NA	Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.549C>A	22.37:g.30212055G>T		NA	Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	37	CCDS13869.1																																																																																			ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322127.1		-	ENST00000397771.2	Silent	SNP	22 : 30212055 - 30212055 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	59	9
RAP2B	5912	broad.mit.edu	37	3	152880895	152880895	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:152880895G>T	ENST00000323534.2	+	1	867	c.413G>T	c.(412-414)tGg>tTg	p.W138L		NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	138					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GCTGAGGAGTGGAGCTGCCCC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	43	47			NA	NA	3		NA											NA				152880895		2203	4300	6503	SO:0001583	missense				CCDS3170.1	3q25.2	2014-05-09			ENSG00000181467	ENSG00000181467	5912	5912			9862	protein-coding gene	gene with protein product	Ras-related protein RAP-2B, small GTP binding protein, Ras family small GTP binding protein RAP2B	179541			NA	2118648	Standard	NM_002886	NM_002886	NA	Approved		uc003ezr.3	P61225	OTTHUMG00000159655	ENST00000323534.2:c.413G>T	3.37:g.152880895G>T	ENSP00000319096:p.Trp138Leu	NA	P17964|Q96EG5|Q9CXG0	37	CCDS3170.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359132	0.82353	.	.	ENSG00000181467	ENST00000323534	T	0.76839	-1.05	4.43	4.43	0.53597	Small GTP-binding protein domain (1);	0.000000	0.64402	U	0.000001	T	0.80215	0.4582	N	0.25485	0.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77338	-0.2625	10	0.24483	T	0.36	.	15.7938	0.78394	0.0:0.0:1.0:0.0	.	138	P61225	RAP2B_HUMAN	L	138	ENSP00000319096:W138L	ENSP00000319096:W138L	W	+	2	0	RAP2B	154363585	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.650000	0.83521	2.294000	0.77228	0.563000	0.77884	TGG	RAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356707.1		+	ENST00000323534.2	Missense_Mutation	SNP	3 : 152880895 - 152880895 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	207	35
RC3H2	54542	broad.mit.edu	37	9	125659725	125659725	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125659725C>T	ENST00000373670.1	-	1	664	c.64G>A	c.(64-66)Gat>Aat	p.D22N	RC3H2_ENST00000471874.2_Missense_Mutation_p.D22N|RC3H2_ENST00000335387.5_Missense_Mutation_p.D22N|RC3H2_ENST00000357244.2_Missense_Mutation_p.D22N|RC3H2_ENST00000423239.2_Missense_Mutation_p.D22N|RC3H2_ENST00000478216.1_Intron|RC3H2_ENST00000373665.2_Missense_Mutation_p.D22N			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	22						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						ACATTCTCATCAAATTCATTA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	86	87			NA	NA	9		NA											NA				125659725		1918	4121	6039	SO:0001583	missense			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586	54542	54542		RING-type (C3HC4) zinc fingers, Zinc fingers, CCCH-type domain containing	21461	protein-coding gene	gene with protein product		615231	membrane associated DNA binding protein, ring finger and CCCH-type zinc finger domains 2	MNAB	NA	10938276	Standard	NM_018835	NM_001100588	NA	Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.64G>A	9.37:g.125659725C>T	ENSP00000362774:p.Asp22Asn	NA	Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	37	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	C	32	5.125828	0.94429	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000423239;ENST00000373665;ENST00000335387	D;D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12;-2.12	6.17	6.17	0.99709	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.88804	0.6536	N	0.16903	0.455	0.58432	D	0.999999	B;D;B;D	0.67145	0.02;0.993;0.033;0.996	B;D;B;D	0.79784	0.072;0.971;0.036;0.993	D	0.87560	0.2471	10	0.34782	T	0.22	4.0E-4	19.8676	0.96824	0.0:1.0:0.0:0.0	.	22;22;22;22	A6NHN2;Q9HBD1;Q9HBD1-5;Q9HBD1-4	.;RC3H2_HUMAN;.;.	N	22	ENSP00000362774:D22N;ENSP00000349783:D22N;ENSP00000411767:D22N;ENSP00000362769:D22N;ENSP00000335150:D22N	ENSP00000335150:D22N	D	-	1	0	RC3H2	124699546	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	GAT	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053966.1		-	ENST00000373670.1	Missense_Mutation	SNP	9 : 125659725 - 125659725 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	160	20
CDC37	11140	broad.mit.edu	37	19	10505909	10505909	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10505909C>A	ENST00000222005.2	-	4	651	c.598G>T	c.(598-600)Gag>Tag	p.E200*		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	200					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CTCACCTCCTCCACCTCTAGG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													208	180	189			NA	NA	19		NA											NA				10505909		2203	4300	6503	SO:0001587	stop_gained			U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401	11140	11140			1735	protein-coding gene	gene with protein product	CDC37 cell division cycle 37 homolog, Hsp90 co-chaperone Cdc37, CDC37 (cell division cycle 37, S. cerevisiae, homolog)	605065	CDC37 (cell division cycle 37, S. cerevisiae, homolog), CDC37 cell division cycle 37 homolog (S. cerevisiae), cell division cycle 37 homolog (S. cerevisiae)		NA	8703009, 8666233	Standard	NM_007065	NM_007065	NA	Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.598G>T	19.37:g.10505909C>A	ENSP00000222005:p.Glu200*	NA	Q53YA2	37	CCDS12237.1	.	.	.	.	.	.	.	.	.	.	C	37	6.103354	0.97286	.	.	ENSG00000105401	ENST00000222005	.	.	.	4.01	4.01	0.46588	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.992	0.64372	0.0:1.0:0.0:0.0	.	.	.	.	X	200	.	ENSP00000222005:E200X	E	-	1	0	CDC37	10366909	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.011000	0.76359	1.948000	0.56530	0.462000	0.41574	GAG	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451987.1		-	ENST00000222005.2	Nonsense_Mutation	SNP	19 : 10505909 - 10505909 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1204	100
FOXO3	2309	broad.mit.edu	37	6	108984928	108984928	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108984928C>T	ENST00000343882.6	+	3	1196	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C	FOXO3_ENST00000540898.1_Missense_Mutation_p.R78C|FOXO3_ENST00000406360.1_Missense_Mutation_p.R298C	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	298				PGSPTSRSSDELDAWTDFRSRTNSNASTVSGRLSPIMAS -> AWQPHVNAAVMSWMRGRTSVHAPILTPAQSVAACRPSW QV (in Ref. 5; CAA04860).	antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 factor binding			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CCCCACGTCACGCAGCAGTGA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	25	24			NA	NA	6		NA											NA				108984928		2201	4298	6499	SO:0001583	missense			AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689	2309	2309		Forkhead boxes	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A	NA	9479491	Standard		NM_001455	NA	Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.892C>T	6.37:g.108984928C>T	ENSP00000339527:p.Arg298Cys	NA	E1P5E6|O15171|Q5T2I7|Q9BZ04	37	CCDS5068.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584054	0.46110	.	.	ENSG00000118689	ENST00000343882;ENST00000406360;ENST00000540258;ENST00000540898	D;D	0.91295	-2.82;-2.82	5.84	5.84	0.93424	.	0.045497	0.85682	D	0.000000	D	0.94384	0.8194	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	P	0.61722	0.893	D	0.93633	0.6958	10	0.54805	T	0.06	-15.3772	20.1432	0.98067	0.0:1.0:0.0:0.0	.	298	O43524	FOXO3_HUMAN	C	298;298;78;78	ENSP00000339527:R298C;ENSP00000385824:R298C	ENSP00000339527:R298C	R	+	1	0	FOXO3	109091621	1.000000	0.71417	0.967000	0.41034	0.036000	0.12997	7.487000	0.81328	2.769000	0.95229	0.561000	0.74099	CGC	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041722.2		+	ENST00000343882.6	Missense_Mutation	SNP	6 : 108984928 - 108984928 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	169	29
SPATA21	374955	broad.mit.edu	37	1	16731528	16731528	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16731528G>A	ENST00000335496.1	-	8	1227	c.745C>T	c.(745-747)Ctc>Ttc	p.L249F	SPATA21_ENST00000540400.1_Missense_Mutation_p.L226F|SPATA21_ENST00000466212.1_5'UTR	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	249							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		CCCATTAGGAGCAGGATATTC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	95	102			NA	NA	1		NA											NA				16731528		2203	4300	6503	SO:0001583	missense				CCDS172.1	1p36.13	2013-01-10			ENSG00000187144	ENSG00000187144	374955	374955		EF-hand domain containing	28026	protein-coding gene	gene with protein product					NA		Standard	NM_198546	NM_198546	NA	Approved	spergen-2, spergen2	uc001ayn.3	Q7Z572	OTTHUMG00000002312	ENST00000335496.1:c.745C>T	1.37:g.16731528G>A	ENSP00000335612:p.Leu249Phe	NA		37	CCDS172.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825291	0.32237	.	.	ENSG00000187144	ENST00000335496;ENST00000540400	T;T	0.78924	-1.22;-1.22	4.53	0.416	0.16416	EF-hand-like domain (1);	0.307870	0.23506	N	0.047446	T	0.71643	0.3364	L	0.52573	1.65	0.19300	N	0.999976	D;D	0.54601	0.967;0.966	P;P	0.52758	0.584;0.708	T	0.60964	-0.7158	10	0.16420	T	0.52	-6.8806	3.7645	0.08617	0.3108:0.185:0.5042:0.0	.	226;249	F5GXP5;Q7Z572	.;SPT21_HUMAN	F	249;226	ENSP00000335612:L249F;ENSP00000440046:L226F	ENSP00000335612:L249F	L	-	1	0	SPATA21	16604115	0.512000	0.26186	0.849000	0.33467	0.290000	0.27261	0.186000	0.16978	0.226000	0.20979	0.313000	0.20887	CTC	SPATA21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006677.2		-	ENST00000335496.1	Missense_Mutation	SNP	1 : 16731528 - 16731528 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	225	32
OR2T8	343172	broad.mit.edu	37	1	248084330	248084330	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248084330G>T	ENST00000319968.4	+	1	11	c.11G>T	c.(10-12)gGg>gTg	p.G4V		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ATGGAAAATGGGAGCTATACC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	97	98			NA	NA	1		NA											NA				248084330		2203	4300	6503	SO:0001583	missense				CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462	343172	343172		GPCR / Class A : Olfactory receptors	15020	protein-coding gene	gene with protein product				OR2T8P	NA		Standard	NM_001005522	XM_005273117	NA	Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.11G>T	1.37:g.248084330G>T	ENSP00000326225:p.Gly4Val	NA		37	CCDS31100.1	.	.	.	.	.	.	.	.	.	.	G	7.161	0.585667	0.13749	.	.	ENSG00000177462	ENST00000319968	T	0.00346	8.01	3.65	-0.732	0.11147	.	1.218620	0.06205	U	0.683946	T	0.00144	0.0004	N	0.11560	0.145	0.20821	N	0.999847	B	0.17268	0.021	B	0.20767	0.031	T	0.24440	-1.0160	10	0.30854	T	0.27	.	0.4146	0.00447	0.2891:0.1369:0.3199:0.254	.	4	A6NH00	OR2T8_HUMAN	V	4	ENSP00000326225:G4V	ENSP00000326225:G4V	G	+	2	0	OR2T8	246150953	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.014000	0.12656	-0.050000	0.13356	0.603000	0.83216	GGG	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096862.1		+	ENST00000319968.4	Missense_Mutation	SNP	1 : 248084330 - 248084330 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	587	121
PPP1R12C	54776	broad.mit.edu	37	19	55607246	55607246	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55607246T>C	ENST00000263433.3	-	9	1231	c.1216A>G	c.(1216-1218)Aag>Gag	p.K406E	PPP1R12C_ENST00000435544.2_Missense_Mutation_p.K332E|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.K406E	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	406						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		ACGGGACTCTTAGGGCTGGGG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	72	68			NA	NA	19		NA											NA				55607246		2202	4300	6502	SO:0001583	missense			AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503	54776	54776		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Ankyrin repeat domain containing	14947	protein-coding gene	gene with protein product	myosin-binding subunit 85	613245	leukocyte receptor cluster (LRC) member 3, protein phosphatase 1, regulatory (inhibitor) subunit 12C	LENG3	NA	11399775	Standard	NM_017607	NM_017607	NA	Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.1216A>G	19.37:g.55607246T>C	ENSP00000263433:p.Lys406Glu	NA	Q59FK8|Q6ZPD1|Q7L8F7|Q96HW1|Q9H5H5|Q9NT00	37	CCDS12916.1	.	.	.	.	.	.	.	.	.	.	T	8.995	0.978693	0.18812	.	.	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	T;T;T	0.67171	-0.11;-0.13;-0.25	4.08	-6.62	0.01813	.	1.460060	0.04373	N	0.359422	T	0.53077	0.1774	L	0.42245	1.32	0.09310	N	1	B;B;B	0.17038	0.02;0.0;0.0	B;B;B	0.14578	0.011;0.001;0.0	T	0.35773	-0.9775	10	0.30078	T	0.28	.	8.0384	0.30506	0.0:0.2738:0.5401:0.186	.	332;406;406	B4DME2;Q9BZL4-3;Q9BZL4	.;.;PP12C_HUMAN	E	406;406;332	ENSP00000263433:K406E;ENSP00000365573:K406E;ENSP00000387833:K332E	ENSP00000263433:K406E	K	-	1	0	PPP1R12C	60299058	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-1.092000	0.03366	-1.227000	0.02571	0.459000	0.35465	AAG	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451814.2		-	ENST00000263433.3	Missense_Mutation	SNP	19 : 55607246 - 55607246 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	843	164
ANKS6	203286	broad.mit.edu	37	9	101536254	101536254	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101536254G>A	ENST00000375019.2	-	8	1145	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	ANKS6_ENST00000353234.4_Missense_Mutation_p.R576W|ANKS6_ENST00000540940.1_Missense_Mutation_p.R381W|ANKS6_ENST00000375018.1_Missense_Mutation_p.R576W			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	576										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TGACGCGTCCGGGACCGATCA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	48	46			NA	NA	9		NA											NA				101536254		1935	4139	6074	SO:0001583	missense			AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138	203286	203286		Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	26724	protein-coding gene	gene with protein product		615370	sterile alpha motif domain containing 6, ankyrin repeat domain 14	SAMD6, ANKRD14	NA	23793029	Standard	NM_173551	XM_005251793	NA	Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000375019.2:c.823C>T	9.37:g.101536254G>A	ENSP00000364159:p.Arg275Trp	NA	A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.26|18.26	3.584812|3.584812	0.65992|0.65992	.|.	.|.	ENSG00000165138|ENSG00000165138	ENST00000444472|ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940	.|T;T;T;T	.|0.74315	.|1.34;-0.82;-0.83;1.59	5.48|5.48	2.3|2.3	0.28687|0.28687	.|.	.|0.176999	.|0.48767	.|D	.|0.000176	T|T	0.79341|0.79341	0.4429|0.4429	M|M	0.63843|0.63843	1.955|1.955	0.32320|0.32320	N|N	0.562519|0.562519	.|D;D	.|0.71674	.|0.998;0.996	.|P;P	.|0.56916	.|0.809;0.65	D|D	0.83447|0.83447	0.0046|0.0046	5|10	.|0.87932	.|D	.|0	-8.574|-8.574	12.0034|12.0034	0.53243|0.53243	0.0:0.0:0.3685:0.6315|0.0:0.0:0.3685:0.6315	.|.	.|576;576	.|Q68DC2-4;Q68DC2	.|.;ANKS6_HUMAN	L|W	44|275;576;576;381	.|ENSP00000364159:R275W;ENSP00000364158:R576W;ENSP00000297837:R576W;ENSP00000442189:R381W	.|ENSP00000297837:R576W	P|R	-|-	2|1	0|2	ANKS6|ANKS6	100576075|100576075	1.000000|1.000000	0.71417|0.71417	0.861000|0.861000	0.33841|0.33841	0.591000|0.591000	0.36615|0.36615	3.055000|3.055000	0.49916|0.49916	0.597000|0.597000	0.29811|0.29811	0.561000|0.561000	0.74099|0.74099	CCG|CGG	ANKS6-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000053378.2		-	ENST00000375019.2	Missense_Mutation	SNP	9 : 101536254 - 101536254 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	393	70
CHD3	1107	broad.mit.edu	37	17	7800528	7800528	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7800528C>A	ENST00000380358.4	+	11	2013	c.2012C>A	c.(2011-2013)cCg>cAg	p.P671Q	CHD3_ENST00000330494.7_Missense_Mutation_p.P612Q|CHD3_ENST00000358181.4_Missense_Mutation_p.P612Q	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	612	Chromo 2.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GTGAAAGACCCGCACTATGCT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	124	135			NA	NA	17		NA											NA				7800528		2203	4300	6503	SO:0001583	missense			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004	1107	1107		Zinc fingers, PHD-type	1918	protein-coding gene	gene with protein product		602120			NA	9326634, 7560064	Standard	NM_001005273	NM_001005271	NA	Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000380358.4:c.2012C>A	17.37:g.7800528C>A	ENSP00000369716:p.Pro671Gln	NA	D3DTQ9|Q9Y4I0	37	CCDS32553.2	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750561	0.69533	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	T;T;T	0.72167	-0.63;-0.63;-0.63	5.67	5.67	0.87782	.	0.000000	0.44902	D	0.000418	T	0.79975	0.4539	L	0.49126	1.545	0.80722	D	1	D;D;D	0.63046	0.989;0.98;0.992	P;P;P	0.62740	0.906;0.808;0.862	T	0.76594	-0.2902	10	0.34782	T	0.22	-17.69	19.7619	0.96323	0.0:1.0:0.0:0.0	.	612;612;671	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	Q	671;612;612	ENSP00000369716:P671Q;ENSP00000350907:P612Q;ENSP00000332628:P612Q	ENSP00000332628:P612Q	P	+	2	0	CHD3	7741253	1.000000	0.71417	0.349000	0.25694	0.807000	0.45602	7.757000	0.85209	2.681000	0.91329	0.561000	0.74099	CCG	CHD3-003	NOVEL	not_organism_supported|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318052.1		+	ENST00000380358.4	Missense_Mutation	SNP	17 : 7800528 - 7800528 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	500	89
KIAA1715	80856	broad.mit.edu	37	2	176802174	176802174	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176802174G>T	ENST00000272748.4	-	12	1199	c.952C>A	c.(952-954)Cct>Act	p.P318T	KIAA1715_ENST00000535310.1_Missense_Mutation_p.P243T|KIAA1715_ENST00000544803.1_Missense_Mutation_p.P349T	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	318						integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			CTAAACTCAGGAAGTCTTGGA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	74	75			NA	NA	2		NA											NA				176802174		2203	4300	6503	SO:0001583	missense			AB051502	CCDS33332.1	2q31	2014-06-27			ENSG00000144320	ENSG00000144320	80856	80856			21610	protein-coding gene	gene with protein product	lunapark, limb and neural patterns	610236			NA	11214970, 22729086	Standard	XM_042834	NM_030650	NA	Approved	ulnaless, Ul, LNP1, LNP	uc002ukc.1	Q9C0E8	OTTHUMG00000154112	ENST00000272748.4:c.952C>A	2.37:g.176802174G>T	ENSP00000272748:p.Pro318Thr	NA	Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	37	CCDS33332.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926957	0.34002	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000409660;ENST00000544803;ENST00000535310	.	.	.	5.61	5.61	0.85477	.	0.049239	0.85682	D	0.000000	T	0.78065	0.4225	M	0.61703	1.905	0.53005	D	0.999968	D;P;D;D	0.76494	0.999;0.93;0.997;0.973	D;P;P;P	0.71656	0.974;0.496;0.879;0.614	T	0.79296	-0.1862	9	0.87932	D	0	-4.2995	19.6271	0.95682	0.0:0.0:1.0:0.0	.	320;349;315;318	F5H2Y7;B7ZLA8;B7ZLA9;Q9C0E8	.;.;.;LNP_HUMAN	T	318;320;195;349;243	.	ENSP00000272748:P318T	P	-	1	0	KIAA1715	176510420	1.000000	0.71417	1.000000	0.80357	0.319000	0.28217	6.299000	0.72770	2.645000	0.89757	0.591000	0.81541	CCT	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333949.3		-	ENST00000272748.4	Missense_Mutation	SNP	2 : 176802174 - 176802174 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	424	67
OR52R1	119695	broad.mit.edu	37	11	4825055	4825055	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4825055C>T	ENST00000356069.2	-	1	555	c.556G>A	c.(556-558)Gct>Act	p.A186T	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000380382.1_Missense_Mutation_p.A265T	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCAGCACAGCCATGTGCTCA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	129	143			NA	NA	11		NA											NA				4825055		2201	4298	6499	SO:0001583	missense			BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937	119695	119695		GPCR / Class A : Olfactory receptors	15235	protein-coding gene	gene with protein product					NA		Standard	NM_001005177	NM_001005177	NA	Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.556G>A	11.37:g.4825055C>T	ENSP00000348368:p.Ala186Thr	NA	Q6IFI0	37	CCDS31360.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959914	0.74016	.	.	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.00130	8.69;8.69	5.46	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000157	T	0.00666	0.0022	M	0.93462	3.42	0.31836	N	0.624071	D	0.76494	0.999	D	0.76071	0.987	T	0.06197	-1.0840	10	0.87932	D	0	.	14.3226	0.66496	0.1497:0.8503:0.0:0.0	.	186	Q8NGF1	O52R1_HUMAN	T	186;265	ENSP00000348368:A186T;ENSP00000369742:A265T	ENSP00000348368:A186T	A	-	1	0	OR52R1	4781631	0.000000	0.05858	1.000000	0.80357	0.990000	0.78478	0.389000	0.20751	1.505000	0.48720	0.650000	0.86243	GCT	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000142183.1		-	ENST00000356069.2	Missense_Mutation	SNP	11 : 4825055 - 4825055 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	543	105
C5orf28	64417	broad.mit.edu	37	5	43446488	43446488	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43446488G>A	ENST00000500337.2	-	5	815	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C	C5orf28_ENST00000512085.1_Missense_Mutation_p.R162C|C5orf28_ENST00000537319.1_Missense_Mutation_p.R31C|C5orf28_ENST00000511525.1_5'UTR|C5orf28_ENST00000510130.1_Missense_Mutation_p.R60C|C5orf28_ENST00000397080.3_Missense_Mutation_p.R162C			Q0VDI3	CE028_HUMAN	chromosome 5 open reading frame 28	162						integral to membrane		p.R162C(2)		breast(1)|kidney(1)|large_intestine(2)|lung(5)	9	Lung NSC(6;2.07e-05)					AAACCATGACGAATCCCATCT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	large_intestine(1)|lung(1)											120	113	115			NA	NA	5		NA											NA				43446488		2203	4300	6503	SO:0001583	missense			AK025310	CCDS3945.1	5p12	2011-01-25			ENSG00000151881	ENSG00000151881	64417	64417			26139	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_022483	NM_022483	NA	Approved	FLJ21657	uc003jny.3	Q0VDI3	OTTHUMG00000131150	ENST00000500337.2:c.484C>T	5.37:g.43446488G>A	ENSP00000426067:p.Arg162Cys	NA	B2RDA6|Q9H6Z2	37	CCDS3945.1	.	.	.	.	.	.	.	.	.	.	G	34	5.396156	0.96009	.	.	ENSG00000151881	ENST00000500337;ENST00000537319;ENST00000397080;ENST00000512085;ENST00000510130;ENST00000506860	.	.	.	5.95	5.95	0.96441	.	0.044157	0.85682	D	0.000000	D	0.85869	0.5797	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87265	0.2282	9	0.87932	D	0	-16.6988	20.3697	0.98890	0.0:0.0:1.0:0.0	.	162	Q0VDI3	CE028_HUMAN	C	162;31;162;162;60;162	.	ENSP00000380270:R162C	R	-	1	0	C5orf28	43482245	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.471000	0.97696	2.811000	0.96726	0.655000	0.94253	CGT	C5orf28-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368003.1		-	ENST00000500337.2	Missense_Mutation	SNP	5 : 43446488 - 43446488 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	501	68
DMBT1	1755	broad.mit.edu	37	10	124333230	124333230	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124333230G>T	ENST00000338354.3	+	6	341		c.e6-1		DMBT1_ENST00000368956.2_Splice_Site|DMBT1_ENST00000330163.4_Splice_Site|DMBT1_ENST00000344338.3_Splice_Site|DMBT1_ENST00000368955.3_Splice_Site|DMBT1_ENST00000368909.3_Splice_Site|DMBT1_ENST00000359586.6_Splice_Site			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	NA					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCACCCTGCAGGTTCTCTGAT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(182;93 2026 18125 22222 38972)							NA				0													171	172	172			NA	NA	10		NA											NA				124333230		1895	4118	6013	SO:0001630	splice_region_variant				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908	1755	1755			2926	protein-coding gene	gene with protein product		601969			NA	9288095, 17548659	Standard	NM_004406	NM_004406	NA	Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.236-1G>T	10.37:g.124333230G>T		NA	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	37		.	.	.	.	.	.	.	.	.	.	G	10.40	1.338472	0.24253	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	.	.	.	2.92	2.92	0.33932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.5416	0.39255	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DMBT1	124323220	0.992000	0.36948	0.685000	0.30070	0.024000	0.10985	3.215000	0.51169	1.949000	0.56562	0.655000	0.94253	.	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000050792.2	Intron	+	ENST00000338354.3	Splice_Site	SNP	10 : 124333230 - 124333230 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1014	165
HMCN1	83872	broad.mit.edu	37	1	186024739	186024739	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186024739C>T	ENST00000271588.4	+	45	7306	c.7077C>T	c.(7075-7077)ggC>ggT	p.G2359G	HMCN1_ENST00000367492.2_Silent_p.G2359G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2359	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						CTGACACAGGCCGTTATGTGT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	138	144			NA	NA	1		NA											NA				186024739		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.7077C>T	1.37:g.186024739C>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 : 186024739 - 186024739 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	639	144
C5	727	broad.mit.edu	37	9	123751958	123751958	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123751958G>A	ENST00000223642.1	-	24	3071	c.3042C>T	c.(3040-3042)agC>agT	p.S1014S		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1014					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	CTGGGACAACGCTCATCAGCT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	76	77			NA	NA	9		NA											NA				123751958		2203	4300	6503	SO:0001819	synonymous_variant			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804	727	727		Complement system, Endogenous ligands	1331	protein-coding gene	gene with protein product	prepro-C5, C5a anaphylatoxin	120900			NA		Standard	NM_001735	NM_001735	NA	Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.3042C>T	9.37:g.123751958G>A		NA	Q14CJ0|Q27I61	37	CCDS6826.1																																																																																			C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053844.1		-	ENST00000223642.1	Silent	SNP	9 : 123751958 - 123751958 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	207	55
OR8D2	283160	broad.mit.edu	37	11	124189745	124189745	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124189745C>A	ENST00000357438.2	-	1	439	c.349G>T	c.(349-351)Gcc>Tcc	p.A117S		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TATTCCATGGCTGTCAGAAGG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	77	79			NA	NA	11		NA											NA				124189745		2201	4299	6500	SO:0001583	missense			AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263	283160	283160		GPCR / Class A : Olfactory receptors	8482	protein-coding gene	gene with protein product					NA		Standard	NM_001002918	NM_001002918	NA	Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.349G>T	11.37:g.124189745C>A	ENSP00000350022:p.Ala117Ser	NA	B9EH49|Q6IFR0	37	CCDS31707.1	.	.	.	.	.	.	.	.	.	.	c	2.879	-0.232208	0.05983	.	.	ENSG00000197263	ENST00000357438	T	0.03065	4.06	3.6	2.68	0.31781	GPCR, rhodopsin-like superfamily (1);	0.140010	0.32416	N	0.006128	T	0.03095	0.0091	L	0.51422	1.61	0.09310	N	1	B	0.32573	0.376	B	0.30401	0.115	T	0.36016	-0.9765	10	0.06236	T	0.91	.	6.9376	0.24474	0.0:0.7022:0.0:0.2978	.	117	Q9GZM6	OR8D2_HUMAN	S	117	ENSP00000350022:A117S	ENSP00000350022:A117S	A	-	1	0	OR8D2	123694955	0.000000	0.05858	0.068000	0.19968	0.204000	0.24138	0.169000	0.16641	1.117000	0.41842	0.420000	0.28162	GCC	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387286.1		-	ENST00000357438.2	Missense_Mutation	SNP	11 : 124189745 - 124189745 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	54
ZNF574	64763	broad.mit.edu	37	19	42585038	42585038	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42585038C>T	ENST00000600245.1	+	2	2935	c.2280C>T	c.(2278-2280)caC>caT	p.H760H	ZNF574_ENST00000359044.4_Silent_p.H760H|ZNF574_ENST00000222339.7_Silent_p.H850H			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	760					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GGCGCATCCACACAGGTGAGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	137	138			NA	NA	19		NA											NA				42585038		2203	4300	6503	SO:0001819	synonymous_variant			AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732	64763	64763		Zinc fingers, C2H2-type	26166	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_022752	NM_022752	NA	Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.2280C>T	19.37:g.42585038C>T		NA	Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	37	CCDS12596.1																																																																																			ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463458.1		+	ENST00000600245.1	Silent	SNP	19 : 42585038 - 42585038 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1512	250
ABCC11	85320	broad.mit.edu	37	16	48221197	48221197	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48221197C>T	ENST00000394747.1	-	20	3197	c.2848G>A	c.(2848-2850)Gcc>Acc	p.A950T	ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.A950T|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000394748.1_Missense_Mutation_p.A950T|ABCC11_ENST00000356608.2_Missense_Mutation_p.A950T	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	950	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				AACAGGACGGCGATCACCATT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	87	93			NA	NA	16		NA											NA				48221197		2201	4300	6501	SO:0001583	missense			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270	85320	85320		ATP binding cassette transporters / subfamily C	14639	protein-coding gene	gene with protein product		607040			NA	11483364, 11435397	Standard	NM_032583	NM_033151	NA	Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.2848G>A	16.37:g.48221197C>T	ENSP00000378230:p.Ala950Thr	NA	Q8TDJ0|Q96JA6|Q9BX80	37	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700967	0.68501	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65	5.0	-10.0	0.00425	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.985385	0.08272	N	0.971317	D	0.85678	0.5752	M	0.68317	2.08	0.09310	N	1	B;P	0.38020	0.098;0.615	B;B	0.40199	0.008;0.322	T	0.75311	-0.3362	10	0.33940	T	0.23	0.3528	6.9598	0.24591	0.2208:0.4704:0.0:0.3088	.	950;950	Q96J66-2;Q96J66	.;ABCCB_HUMAN	T	950	ENSP00000311326:A950T;ENSP00000349017:A950T;ENSP00000378231:A950T;ENSP00000378230:A950T	ENSP00000311326:A950T	A	-	1	0	ABCC11	46778698	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.644000	0.05415	-2.090000	0.00859	0.563000	0.77884	GCC	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000429984.1		-	ENST00000394747.1	Missense_Mutation	SNP	16 : 48221197 - 48221197 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	351	49
SLC34A1	6569	broad.mit.edu	37	5	176820710	176820710	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176820710T>C	ENST00000324417.5	+	9	1043	c.952T>C	c.(952-954)Tcc>Ccc	p.S318P	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	318					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACCTCCATGTCCAGAGCAGA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	89	93			NA	NA	5		NA											NA				176820710		2203	4300	6503	SO:0001583	missense			L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183	6569	6569		Solute carriers	11019	protein-coding gene	gene with protein product	sodium/phosphate co-transporter, solute carrier family 17 (sodium phosphate), member 2, Na+-phosphate cotransporter type II	182309	solute carrier family 34 (sodium phosphate), member 1	NPT2, SLC17A2	NA	8327470, 8693007	Standard	NM_003052	NM_003052	NA	Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.952T>C	5.37:g.176820710T>C	ENSP00000321424:p.Ser318Pro	NA		37	CCDS4418.1	.	.	.	.	.	.	.	.	.	.	T	2.254	-0.370791	0.05034	.	.	ENSG00000131183	ENST00000324417	T	0.32988	1.43	5.39	3.42	0.39159	.	0.942630	0.08896	N	0.877946	T	0.13243	0.0321	N	0.04260	-0.245	0.30022	N	0.814269	B	0.02656	0.0	B	0.01281	0.0	T	0.31641	-0.9936	10	0.25751	T	0.34	-27.075	3.302	0.06987	0.0:0.465:0.3367:0.1982	.	318	Q06495	NPT2A_HUMAN	P	318	ENSP00000321424:S318P	ENSP00000321424:S318P	S	+	1	0	SLC34A1	176753316	0.348000	0.24861	0.418000	0.26571	0.016000	0.09150	0.357000	0.20199	0.494000	0.27859	0.379000	0.24179	TCC	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253431.1		+	ENST00000324417.5	Missense_Mutation	SNP	5 : 176820710 - 176820710 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	19
PSMA6	5687	broad.mit.edu	37	14	35761742	35761742	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35761742T>C	ENST00000261479.4	+	1	180	c.60T>C	c.(58-60)ggT>ggC	p.G20G	KIAA0391_ENST00000557565.1_Intron|PSMA6_ENST00000555764.1_5'UTR|PSMA6_ENST00000553809.1_Silent_p.G20G|PSMA6_ENST00000556506.1_Silent_p.G20G|PSMA6_ENST00000540871.1_Intron	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	20					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		CACCCGAGGGTCGGCTCTACC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	96	97			NA	NA	14		NA											NA				35761742		2203	4300	6503	SO:0001819	synonymous_variant			X59417	CCDS9655.1, CCDS61437.1, CCDS61438.1	14q13	2003-03-12			ENSG00000100902	ENSG00000100902	5687	5687		Proteasome (prosome, macropain) subunits	9535	protein-coding gene	gene with protein product		602855			NA	1888762, 8811196	Standard		NM_002791	NA	Approved	IOTA, PROS27, p27K, MGC22756, MGC2333, MGC23846	uc001wtd.3	P60900	OTTHUMG00000140221	ENST00000261479.4:c.60T>C	14.37:g.35761742T>C		NA	B2R7J9|P34062|Q6IB60	37	CCDS9655.1																																																																																			PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276684.1		+	ENST00000261479.4	Silent	SNP	14 : 35761742 - 35761742 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	482	19
PAFAH2	5051	broad.mit.edu	37	1	26301000	26301000	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26301000C>T	ENST00000374282.3	-	9	1079	c.900G>A	c.(898-900)caG>caA	p.Q300Q	PAFAH2_ENST00000374284.1_Silent_p.Q300Q	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	300					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		ACTGTTCATGCTGGGCACATA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	106	110			NA	NA	1		NA											NA				26301000		2203	4300	6503	SO:0001819	synonymous_variant			D87845	CCDS270.1	1p34.3	2008-09-19	2002-08-29		ENSG00000158006	ENSG00000158006	5051	5051			8579	protein-coding gene	gene with protein product		602344	platelet-activating factor acetylhydrolase 2 (40kD)		NA	8955149, 9494101	Standard	NM_000437	NM_000437	NA	Approved	HSD-PLA2	uc001bld.4	Q99487	OTTHUMG00000007437	ENST00000374282.3:c.900G>A	1.37:g.26301000C>T		NA	D3DPK1|O15458|Q5SY02	37	CCDS270.1																																																																																			PAFAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019544.1		-	ENST00000374282.3	Silent	SNP	1 : 26301000 - 26301000 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	243	31
TNNC1	7134	broad.mit.edu	37	3	52485481	52485481	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52485481G>A	ENST00000232975.3	-	5	434	c.380C>T	c.(379-381)aCc>aTc	p.T127I		NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN	troponin C type 1 (slow)	127	EF-hand 3.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	CTCCGTGATGGTCTCGCCTGT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	129	142			NA	NA	3		NA											NA				52485481		2203	4300	6503	SO:0001583	missense				CCDS2857.1	3p21.1	2014-09-17	2005-09-12		ENSG00000114854	ENSG00000114854	7134	7134		EF-hand domain containing	11943	protein-coding gene	gene with protein product		191040	troponin C, slow	TNNC	NA		Standard		NM_003280	NA	Approved		uc003deb.3	P63316	OTTHUMG00000158572	ENST00000232975.3:c.380C>T	3.37:g.52485481G>A	ENSP00000232975:p.Thr127Ile	NA	O14800|P02590|P04463	37	CCDS2857.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189317	0.57909	.	.	ENSG00000114854	ENST00000232975;ENST00000496590	D;D	0.95171	-3.63;-3.63	5.58	3.76	0.43208	EF-hand-like domain (1);	0.192979	0.56097	N	0.000035	D	0.88735	0.6517	N	0.19112	0.55	0.50813	D	0.999896	B	0.10296	0.003	B	0.13407	0.009	T	0.83351	-0.0003	10	0.87932	D	0	.	10.7971	0.46466	0.0682:0.0:0.8012:0.1306	.	127	P63316	TNNC1_HUMAN	I	127;83	ENSP00000232975:T127I;ENSP00000420596:T83I	ENSP00000232975:T127I	T	-	2	0	TNNC1	52460521	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	2.917000	0.48821	0.697000	0.31718	0.561000	0.74099	ACC	TNNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351371.1		-	ENST00000232975.3	Missense_Mutation	SNP	3 : 52485481 - 52485481 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	355	69
OR52N5	390075	broad.mit.edu	37	11	5799527	5799527	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5799527A>G	ENST00000317093.2	-	1	370	c.338T>C	c.(337-339)gTt>gCt	p.V113A	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GAACCCATGAACAAAGAACAT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	86	89			NA	NA	11		NA											NA				5799527		2122	4087	6209	SO:0001583	missense			AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009	390075	390075		GPCR / Class A : Olfactory receptors	15231	protein-coding gene	gene with protein product					NA		Standard	NM_001001922	NM_001001922	NA	Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.338T>C	11.37:g.5799527A>G	ENSP00000322866:p.Val113Ala	NA	B9EH12|Q6IFG2	37	CCDS31397.1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.270074	0.40194	.	.	ENSG00000181009	ENST00000317093	T	0.03181	4.02	3.7	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	0.000000	0.28431	U	0.015374	T	0.09158	0.0226	M	0.63208	1.945	0.23677	N	0.997139	D	0.54964	0.969	P	0.54856	0.762	T	0.06232	-1.0838	10	0.87932	D	0	.	7.7915	0.29123	0.8961:0.0:0.1038:0.0	.	113	Q8NH56	O52N5_HUMAN	A	113	ENSP00000322866:V113A	ENSP00000322866:V113A	V	-	2	0	OR52N5	5756103	0.008000	0.16893	0.989000	0.46669	0.910000	0.53928	2.530000	0.45641	0.607000	0.29982	0.405000	0.27470	GTT	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401141.1		-	ENST00000317093.2	Missense_Mutation	SNP	11 : 5799527 - 5799527 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	419	86
KNDC1	85442	broad.mit.edu	37	10	135025297	135025297	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135025297G>A	ENST00000304613.3	+	23	4192	c.4171G>A	c.(4171-4173)Gag>Aag	p.E1391K	KNDC1_ENST00000368572.2_Missense_Mutation_p.E1393K			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1391					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAGGGAGGCCGAGGAGGATGC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798	85442	85442			29374	protein-coding gene	gene with protein product			RasGEF domain family, member 2	RASGEF2, C10orf23	NA	11214970	Standard	NM_152643	NM_152643	NA	Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.4171G>A	10.37:g.135025297G>A	ENSP00000304437:p.Glu1391Lys	NA	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	37	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	8.388	0.839178	0.16891	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.16897	2.31;2.31	3.13	3.13	0.36017	Ras guanine nucleotide exchange factor, domain (1);	0.139666	0.46758	U	0.000269	T	0.08802	0.0218	L	0.27053	0.805	0.23747	N	0.996956	P	0.40107	0.703	B	0.30251	0.113	T	0.28713	-1.0035	10	0.19590	T	0.45	-27.3434	10.4476	0.44503	0.0:0.0:1.0:0.0	.	1391	Q76NI1	VKIND_HUMAN	K	1391;1393	ENSP00000304437:E1391K;ENSP00000357561:E1393K	ENSP00000304437:E1391K	E	+	1	0	KNDC1	134875287	0.997000	0.39634	0.436000	0.26797	0.085000	0.17905	3.034000	0.49751	1.713000	0.51359	0.282000	0.19409	GAG	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277044.3		+	ENST00000304613.3	Missense_Mutation	SNP	10 : 135025297 - 135025297 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	212	43
ARID4B	51742	broad.mit.edu	37	1	235359427	235359427	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235359427G>A	ENST00000264183.3	-	18	2342	c.1845C>T	c.(1843-1845)taC>taT	p.Y615Y	ARID4B_ENST00000366603.2_Silent_p.Y615Y|ARID4B_ENST00000349213.3_Silent_p.Y529Y	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	615					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCCATTCATCGTATCTAAAAT	0.274		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	74	74			NA	NA	1		NA											NA				235359427		2200	4293	6493	SO:0001819	synonymous_variant			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267	51742	51742		-	15550	protein-coding gene	gene with protein product		609696	retinoblastoma binding protein 1-like 1, AT rich interactive domain 4B (RBP1- like)	RBP1L1	NA	11481388	Standard	NM_016374	NM_016374	NA	Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.1845C>T	1.37:g.235359427G>A		NA	A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	37	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	G	4.581	0.107998	0.08780	.	.	ENSG00000054267	ENST00000444620	.	.	.	5.45	-0.742	0.11108	.	.	.	.	.	T	0.57975	0.2090	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53968	-0.8363	4	.	.	.	-14.7718	10.9931	0.47561	0.5709:0.0:0.4291:0.0	.	.	.	.	M	15	.	.	T	-	2	0	ARID4B	233426050	0.998000	0.40836	0.998000	0.56505	0.652000	0.38707	0.752000	0.26362	-0.085000	0.12573	-0.482000	0.04802	ACG	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095566.3		-	ENST00000264183.3	Silent	SNP	1 : 235359427 - 235359427 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	232	31
SERPINC1	462	broad.mit.edu	37	1	173878870	173878870	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173878870C>T	ENST00000367698.3	-	5	1091	c.973G>A	c.(973-975)Gcc>Acc	p.A325T		NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	325					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	TCTACCTTGGCCAGGCTCTTC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	136	139			NA	NA	1		NA											NA				173878870		2203	4300	6503	SO:0001583	missense			X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601	462	462		Serine (or cysteine) peptidase inhibitors	775	protein-coding gene	gene with protein product	antithrombin III, signal peptide antithrombin part 1, coding sequence signal peptide antithrombin part 1, antithrombin (aa 375-432)	107300	serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1	AT3	NA	3979120, 24172014	Standard	NM_000488	NM_000488	NA	Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.973G>A	1.37:g.173878870C>T	ENSP00000356671:p.Ala325Thr	NA	B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	37	CCDS1313.1	.	.	.	.	.	.	.	.	.	.	C	4.138	0.023934	0.08006	.	.	ENSG00000117601	ENST00000367698	D	0.82711	-1.64	5.45	3.58	0.41010	Serpin domain (3);	0.660844	0.16797	N	0.199144	T	0.60869	0.2302	L	0.48260	1.515	0.22873	N	0.998623	B	0.02656	0.0	B	0.04013	0.001	T	0.48969	-0.8987	10	0.24483	T	0.36	.	12.0354	0.53423	0.0:0.7947:0.0:0.2053	.	325	P01008	ANT3_HUMAN	T	325	ENSP00000356671:A325T	ENSP00000356671:A325T	A	-	1	0	SERPINC1	172145493	0.737000	0.28175	1.000000	0.80357	0.227000	0.25037	0.568000	0.23623	0.289000	0.22422	-0.797000	0.03246	GCC	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090734.1		-	ENST00000367698.3	Missense_Mutation	SNP	1 : 173878870 - 173878870 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	868	132
SPEG	10290	broad.mit.edu	37	2	220336654	220336654	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220336654C>T	ENST00000312358.7	+	14	3912	c.3780C>T	c.(3778-3780)agC>agT	p.S1260S	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1260	Ig-like 6.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCTACAAGAGCGTCATTGCCA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	70	68			NA	NA	2		NA											NA				220336654		2164	4258	6422	SO:0001819	synonymous_variant			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195	10290	10290		Immunoglobulin superfamily / I-set domain containing	16901	protein-coding gene	gene with protein product		615950	aortic preferentially expressed gene 1	APEG1	NA	8663449, 10973969	Standard	NM_005876	NM_005876	NA	Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.3780C>T	2.37:g.220336654C>T		NA	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	37	CCDS42824.1																																																																																			SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130252.2		+	ENST00000312358.7	Silent	SNP	2 : 220336654 - 220336654 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	44
HERC2	8924	broad.mit.edu	37	15	28510844	28510844	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28510844A>G	ENST00000261609.7	-	14	1898	c.1790T>C	c.(1789-1791)gTa>gCa	p.V597A		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	597					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAGCCCGGCTACCAGCATCGG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	118	136			NA	NA	15		NA											NA				28510844		2203	4300	6503	SO:0001583	missense			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731	8924	8924			4868	protein-coding gene	gene with protein product		605837	hect domain and RLD 2		NA	9949213	Standard	NM_004667	NM_004667	NA	Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.1790T>C	15.37:g.28510844A>G	ENSP00000261609:p.Val597Ala	NA	Q86SV7|Q86SV8|Q86SV9|Q86YY3|Q86YY4|Q86YY5|Q86YY6|Q86YY7|Q86YY8|Q86YY9|Q86YZ0|Q86YZ1	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	A	31	5.083169	0.94050	.	.	ENSG00000128731	ENST00000261609	D	0.88277	-2.36	5.44	5.44	0.79542	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.95714	0.8606	M	0.92122	3.275	0.80722	D	1	D	0.62365	0.991	D	0.80764	0.994	D	0.96716	0.9529	10	0.87932	D	0	.	15.8418	0.78852	1.0:0.0:0.0:0.0	.	597	O95714	HERC2_HUMAN	A	597	ENSP00000261609:V597A	ENSP00000261609:V597A	V	-	2	0	HERC2	26184439	1.000000	0.71417	0.990000	0.47175	0.950000	0.60333	8.806000	0.91930	2.202000	0.70862	0.491000	0.48974	GTA	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251358.2		-	ENST00000261609.7	Missense_Mutation	SNP	15 : 28510844 - 28510844 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	483	81
PCNXL4	64430	broad.mit.edu	37	14	60591135	60591135	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60591135C>A	ENST00000406854.1	+	9	2800	c.2246C>A	c.(2245-2247)tCt>tAt	p.S749Y	PCNXL4_ENST00000406949.1_Missense_Mutation_p.S515Y|PCNXL4_ENST00000535349.1_5'UTR|PCNXL4_ENST00000317623.4_Missense_Mutation_p.S515Y|PCNXL4_ENST00000404681.2_Missense_Mutation_p.S749Y					pecanex-like 4 (Drosophila)	NA											NA						ATAATTGATTCTCATGAAAAC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	70	70			NA	NA	14		NA											NA				60591135		2203	4300	6503	SO:0001583	missense			AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773	64430	64430			20349	protein-coding gene	gene with protein product			chromosome 14 open reading frame 135	C14orf135	NA		Standard	NM_022495	NM_022495	NA	Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.2246C>A	14.37:g.60591135C>A	ENSP00000384801:p.Ser749Tyr	NA		37		.	.	.	.	.	.	.	.	.	.	C	19.00	3.741904	0.69418	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681	T;T;T;T	0.27402	1.68;1.7;1.67;1.7	5.69	3.79	0.43588	.	0.101468	0.64402	D	0.000001	T	0.54902	0.1887	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.63488	0.91;0.915	T	0.62263	-0.6891	10	0.87932	D	0	.	16.0285	0.80560	0.0:0.7458:0.2542:0.0	.	749;515	Q63HM2;B5MC47	CN135_HUMAN;.	Y	515;749;515;749	ENSP00000317396:S515Y;ENSP00000384801:S749Y;ENSP00000385201:S515Y;ENSP00000385713:S749Y	ENSP00000317396:S515Y	S	+	2	0	C14orf135	59660888	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.512000	0.60469	0.689000	0.31550	0.650000	0.86243	TCT	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000317847.1		+	ENST00000406854.1	Missense_Mutation	SNP	14 : 60591135 - 60591135 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	219	45
STAMBPL1	57559	broad.mit.edu	37	10	90673146	90673146	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90673146A>G	ENST00000371927.3	+	6	1667	c.709A>G	c.(709-711)Aat>Gat	p.N237D	STAMBPL1_ENST00000371922.1_Missense_Mutation_p.N71D|STAMBPL1_ENST00000371924.1_Missense_Mutation_p.N237D|STAMBPL1_ENST00000371926.3_Missense_Mutation_p.N237D			Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	237							metal ion binding|metallopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		TGATGCAACCAATTATGCTAG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	88	90			NA	NA	10		NA											NA				90673146		2203	4300	6503	SO:0001583	missense			AB037794	CCDS7391.1	10q23.32	2006-11-08			ENSG00000138134	ENSG00000138134	57559	57559			24105	protein-coding gene	gene with protein product	associated molecule with the SH3 domain of STAM (AMSH) like protein, associated molecule with the SH3 domain of STAM (AMSH) - Family Protein	612352			NA	12810066, 12943674	Standard	NM_020799	NM_020799	NA	Approved	AMSH-LP, KIAA1373, AMSH-FP, FLJ31524, ALMalpha, bA399O19.2	uc001kfk.4	Q96FJ0	OTTHUMG00000018702	ENST00000371927.3:c.709A>G	10.37:g.90673146A>G	ENSP00000360995:p.Asn237Asp	NA	B3KPA7|Q5T9N4|Q5T9N9|Q7Z420|Q9P2H4	37		.	.	.	.	.	.	.	.	.	.	A	0.788	-0.759925	0.03019	.	.	ENSG00000138134	ENST00000371926;ENST00000371927;ENST00000371924;ENST00000371922	T;T;T;T	0.22743	1.96;1.94;1.96;1.95	5.43	4.27	0.50696	.	0.906390	0.09756	N	0.759943	T	0.09949	0.0244	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.29701	-1.0003	10	0.12103	T	0.63	-1.1119	7.3428	0.26646	0.8548:0.0:0.1452:0.0	.	237;237	Q96FJ0-2;Q96FJ0	.;STALP_HUMAN	D	237;237;237;71	ENSP00000360994:N237D;ENSP00000360995:N237D;ENSP00000360992:N237D;ENSP00000360990:N71D	ENSP00000360990:N71D	N	+	1	0	STAMBPL1	90663126	0.000000	0.05858	0.166000	0.22797	0.183000	0.23260	0.537000	0.23144	2.189000	0.69895	0.528000	0.53228	AAT	STAMBPL1-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000049284.1		+	ENST00000371927.3	Missense_Mutation	SNP	10 : 90673146 - 90673146 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	632	124
DIRAS2	54769	broad.mit.edu	37	9	93375869	93375869	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93375869C>T	ENST00000375765.3	-	2	629	c.241G>A	c.(241-243)Gcc>Acc	p.A81T		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	81					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						AGGATGAAGGCGTGCCCTTTG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	118	126			NA	NA	9		NA											NA				93375869		2203	4300	6503	SO:0001583	missense			AB076889	CCDS6687.1	9q22.32	2014-05-09			ENSG00000165023	ENSG00000165023	NA	54769			19323	protein-coding gene	gene with protein product		607863			NA	12194967	Standard		NM_017594	NA	Approved	Di-Ras2, DKFZp761C07121	uc004aqx.1	Q96HU8	OTTHUMG00000020196	ENST00000375765.3:c.241G>A	9.37:g.93375869C>T	ENSP00000364919:p.Ala81Thr	NA	B3KVM2	37	CCDS6687.1	.	.	.	.	.	.	.	.	.	.	C	34	5.386281	0.95967	.	.	ENSG00000165023	ENST00000375765	T	0.78246	-1.16	5.06	5.06	0.68205	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89329	0.6684	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	D	0.90788	0.4684	10	0.87932	D	0	.	17.9796	0.89137	0.0:1.0:0.0:0.0	.	81	Q96HU8	DIRA2_HUMAN	T	81	ENSP00000364919:A81T	ENSP00000364919:A81T	A	-	1	0	DIRAS2	92415689	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.473000	0.81007	2.808000	0.96608	0.655000	0.94253	GCC	DIRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053012.1		-	ENST00000375765.3	Missense_Mutation	SNP	9 : 93375869 - 93375869 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	806	63
PSMD1	5707	broad.mit.edu	37	2	231927223	231927223	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231927223G>A	ENST00000308696.6	+	4	300	c.138G>A	c.(136-138)gaG>gaA	p.E46E	PSMD1_ENST00000409643.1_Silent_p.E46E|PSMD1_ENST00000373635.4_Silent_p.E46E	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	46					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	CTTTCAGAGAGGTTTTATACG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	80	78			NA	NA	2		NA											NA				231927223		2203	4299	6502	SO:0001819	synonymous_variant			D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692	5707	5707		Proteasome (prosome, macropain) subunits	9554	protein-coding gene	gene with protein product					NA	8816993	Standard		NM_002807	NA	Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.138G>A	2.37:g.231927223G>A		NA	B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	37	CCDS2482.1																																																																																			PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256958.2		+	ENST00000308696.6	Silent	SNP	2 : 231927223 - 231927223 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	597	90
CDC23	8697	broad.mit.edu	37	5	137525404	137525404	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137525404C>T	ENST00000394886.2	-	15	1571	c.1541G>A	c.(1540-1542)cGc>cAc	p.R514H		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	514					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGCCAGATAGCGAAAGGCAGT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	83	85			NA	NA	5		NA											NA				137525404		2203	4300	6503	SO:0001583	missense			AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880	8697	8697		Anaphase promoting complex subunits, Tetratricopeptide (TTC) repeat domain containing	1724	protein-coding gene	gene with protein product	anaphase promoting complex subunit 8	603462	CDC23 (cell division cycle 23, yeast, homolog), cell division cycle 23 homolog (S. cerevisiae)		NA	9790767	Standard		NM_004661	NA	Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.1541G>A	5.37:g.137525404C>T	ENSP00000378350:p.Arg514His	NA	A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	37	CCDS4200.2	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626694	0.66901	.	.	ENSG00000094880	ENST00000394886	T	0.37584	1.19	5.27	5.27	0.74061	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.29061	0.0722	L	0.38531	1.155	0.80722	D	1	B	0.31241	0.315	B	0.21360	0.034	T	0.04551	-1.0943	10	0.21014	T	0.42	-8.2032	19.0709	0.93136	0.0:1.0:0.0:0.0	.	514	Q9UJX2	CDC23_HUMAN	H	514	ENSP00000378350:R514H	ENSP00000378350:R514H	R	-	2	0	CDC23	137553303	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.651000	0.83577	2.745000	0.94114	0.462000	0.41574	CGC	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251275.2		-	ENST00000394886.2	Missense_Mutation	SNP	5 : 137525404 - 137525404 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	309	49
ZNF383	163087	broad.mit.edu	37	19	37734418	37734418	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37734418G>A	ENST00000589413.1	+	8	1863	c.1280G>A	c.(1279-1281)tGt>tAt	p.C427Y	ZNF383_ENST00000352998.3_Missense_Mutation_p.C427Y|ZNF383_ENST00000590503.1_Missense_Mutation_p.C427Y			Q8NA42	ZN383_HUMAN	zinc finger protein 383	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTAATGAATGTGGAAAGGCC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	68	67			NA	NA	19		NA											NA				37734418		2203	4300	6503	SO:0001583	missense			AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283	163087	163087		Zinc fingers, C2H2-type, -	18609	protein-coding gene	gene with protein product					NA		Standard	NM_152604	NM_152604	NA	Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.1280G>A	19.37:g.37734418G>A	ENSP00000464871:p.Cys427Tyr	NA	Q6X2C7	37	CCDS12501.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308850	0.40895	.	.	ENSG00000188283	ENST00000352998	D	0.85861	-2.04	3.85	3.85	0.44370	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34435	N	0.003980	D	0.94371	0.8190	H	0.96518	3.835	0.31323	N	0.685758	D	0.89917	1.0	D	0.97110	1.0	D	0.93643	0.6966	10	0.87932	D	0	.	13.6497	0.62304	0.0:0.0:1.0:0.0	.	427	Q8NA42	ZN383_HUMAN	Y	427	ENSP00000340132:C427Y	ENSP00000340132:C427Y	C	+	2	0	ZNF383	42426258	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	6.899000	0.75682	2.134000	0.65973	0.563000	0.77884	TGT	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458141.1		+	ENST00000589413.1	Missense_Mutation	SNP	19 : 37734418 - 37734418 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	387	74
TMEM261	90871	broad.mit.edu	37	9	7799703	7799703	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:7799703G>T	ENST00000358227.4	-	1	364	c.32C>A	c.(31-33)tCc>tAc	p.S11Y	TMEM261_ENST00000484082.1_Intron	NM_033428.1	NP_219500.1			transmembrane protein 261	11											NA						AGTGATATAGGACTCAAAAGG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	25	24			NA	NA	9		NA											NA				7799703		2203	4299	6502	SO:0001583	missense			BC009510	CCDS34989.1	9p24.1	2014-02-21	2013-09-11	2013-09-11	ENSG00000137038	ENSG00000137038	90871	90871			30536	protein-coding gene	gene with protein product			chromosome 9 open reading frame 123	C9orf123	NA	21666724	Standard	NM_033428	NM_033428	NA	Approved	MGC4730	uc003zkj.3	Q96GE9	OTTHUMG00000019539	ENST00000358227.4:c.32C>A	9.37:g.7799703G>T	ENSP00000350961:p.Ser11Tyr	NA		37	CCDS34989.1	.	.	.	.	.	.	.	.	.	.	g	11.73	1.726697	0.30593	.	.	ENSG00000137038	ENST00000358227	T	0.47177	0.85	4.48	-0.962	0.10333	.	1.000120	0.08080	N	1.000000	T	0.31482	0.0798	N	0.22421	0.69	0.09310	N	1	B;B	0.31893	0.345;0.345	B;B	0.31337	0.128;0.128	T	0.24190	-1.0167	10	0.48119	T	0.1	-5.135	7.4557	0.27266	0.1703:0.3336:0.4961:0.0	.	11;11	Q96GE9-2;Q96GE9	.;CI123_HUMAN	Y	11	ENSP00000350961:S11Y	ENSP00000350961:S11Y	S	-	2	0	C9orf123	7789703	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.499000	0.00968	-0.388000	0.07797	-0.829000	0.03081	TCC	TMEM261-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051705.1		-	ENST00000358227.4	Missense_Mutation	SNP	9 : 7799703 - 7799703 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	248	33
FOXA1	3169	broad.mit.edu	37	14	38061834	38061834	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38061834G>A	ENST00000250448.2	-	2	216	c.155C>T	c.(154-156)aCc>aTc	p.T52I	FOXA1_ENST00000540786.1_Missense_Mutation_p.T19I|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	52					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|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|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CGTAGTCATGGTGTTCATGGT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													173	151	159			NA	NA	14		NA											NA				38061834		2203	4300	6503	SO:0001583	missense			U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514	3169	3169		Forkhead boxes	5021	protein-coding gene	gene with protein product		602294	hepatocyte nuclear factor 3, alpha	HNF3A	NA	9119385, 8652662	Standard		NM_004496	NA	Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.155C>T	14.37:g.38061834G>A	ENSP00000250448:p.Thr52Ile	NA	B2R9H6|Q9H2A0	37	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949068	0.53186	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	T;T	0.19394	2.15;2.15	4.16	4.16	0.48862	Fork-head N-terminal (1);	1.164010	0.06577	N	0.749592	T	0.22166	0.0534	N	0.22421	0.69	0.45946	D	0.998773	P	0.37914	0.611	B	0.39617	0.305	T	0.15321	-1.0441	10	0.66056	D	0.02	.	16.2573	0.82524	0.0:0.0:1.0:0.0	.	52	P55317	FOXA1_HUMAN	I	52;19	ENSP00000250448:T52I;ENSP00000440178:T19I	ENSP00000250448:T52I	T	-	2	0	FOXA1	37131585	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.830000	0.55768	2.135000	0.66039	0.561000	0.74099	ACC	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276735.1		-	ENST00000250448.2	Missense_Mutation	SNP	14 : 38061834 - 38061834 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	628	109
XAB2	56949	broad.mit.edu	37	19	7687518	7687518	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7687518G>A	ENST00000358368.4	-	11	1438	c.1401C>T	c.(1399-1401)gcC>gcT	p.A467A	XAB2_ENST00000534844.1_Silent_p.A464A	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	467				A -> V (in Ref. 2; AAF86951).	transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CAAAGTACTCGGCCCGGCGGG	0.672		NA						Direct reversal of damage;Nucleotide excision repair (NER)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	37	37			NA	NA	19		NA											NA				7687518		2203	4299	6502	SO:0001819	synonymous_variant			AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924	56949	56949			14089	protein-coding gene	gene with protein product	SYF1 homolog, RNA splicing factor (S. cerevisiae), SYF1 pre-mRNA-splicing factor	610850			NA	10944529	Standard	NM_020196	NM_020196	NA	Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.1401C>T	19.37:g.7687518G>A		NA	Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	37	CCDS32892.1																																																																																			XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461021.1		-	ENST00000358368.4	Silent	SNP	19 : 7687518 - 7687518 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	453	44
SPTB	6710	broad.mit.edu	37	14	65260266	65260266	+	Silent	SNP	C	C	T	rs142550439	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65260266C>T	ENST00000556626.1	-	14	2257	c.2115G>A	c.(2113-2115)gcG>gcA	p.A705A	SPTB_ENST00000389720.3_Silent_p.A705A|SPTB_ENST00000389722.3_Silent_p.A705A|SPTB_ENST00000542895.1_Silent_p.A705A|SPTB_ENST00000389721.5_Silent_p.A705A			P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	705					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ACTGCTTGCGCGCAACCATGC	0.592		NA											c	3	0.0014	0.01	NA	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	0.0014	0.9693	LOWCOV,EXOME	NA	NA	0.0011	SNP								NA				0								T	,	6,4400	11.4+/-27.6	0,6,2197	64	55	58		2115,2115	-9.4	0	14	dbSNP_134	58	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SPTB	NM_000347.5,NM_001024858.2	,	0,6,6497	TT,TC,CC	NA	0.0,0.1362,0.0461	,	705/2138,705/2329	65260266	6,13000	2203	4300	6503	SO:0001819	synonymous_variant				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182	6710	6710		Pleckstrin homology (PH) domain containing	11274	protein-coding gene	gene with protein product	spherocytosis, clinical type I	182870			NA	2209094	Standard		NM_001024858	NA	Approved		uc001xhr.3	P11277		ENST00000556626.1:c.2115G>A	14.37:g.65260266C>T		NA	Q15510|Q15519	37	CCDS32099.1																																																																																			SPTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414076.1		-	ENST00000556626.1	Silent	SNP	14 : 65260266 - 65260266 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	54
AUTS2	26053	broad.mit.edu	37	7	70231115	70231115	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:70231115G>A	ENST00000342771.4	+	9	1805	c.1484G>A	c.(1483-1485)cGa>cAa	p.R495Q	AUTS2_ENST00000406775.2_Missense_Mutation_p.R495Q	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	495										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GACATCTTGCGACAGGAACTG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	129	131			NA	NA	7		NA											NA				70231115		2203	4300	6503	SO:0001583	missense			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321	26053	26053			14262	protein-coding gene	gene with protein product		607270			NA	12160723	Standard		XM_005250257	NA	Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1484G>A	7.37:g.70231115G>A	ENSP00000344087:p.Arg495Gln	NA	A4D1Y9|Q5D049|Q9Y4F2	37	CCDS5539.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.468726|5.468726	0.96274|0.96274	.|.	.|.	ENSG00000158321|ENSG00000158321	ENST00000443672|ENST00000406775;ENST00000342771	.|T;T	.|0.54071	.|0.59;0.59	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.114328	.|0.64402	.|D	.|0.000016	T|T	0.71492|0.71492	0.3346|0.3346	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.81914	.|0.995;0.995	T|T	0.68307|0.68307	-0.5443|-0.5443	5|9	.|.	.|.	.|.	-9.7214|-9.7214	19.9983|19.9983	0.97395|0.97395	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|495;495	.|Q8WXX7-2;Q8WXX7	.|.;AUTS2_HUMAN	N|Q	37|495	.|ENSP00000385263:R495Q;ENSP00000344087:R495Q	.|.	D|R	+|+	1|2	0|0	AUTS2|AUTS2	69869051|69869051	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.159000|9.159000	0.94728|0.94728	2.724000|2.724000	0.93272|0.93272	0.561000|0.561000	0.74099|0.74099	GAC|CGA	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251971.2		+	ENST00000342771.4	Missense_Mutation	SNP	7 : 70231115 - 70231115 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	468	85
MED23	9439	broad.mit.edu	37	6	131931290	131931290	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131931290C>A	ENST00000368068.3	-	11	1152	c.973G>T	c.(973-975)Gga>Tga	p.G325*	MED23_ENST00000368053.4_Nonsense_Mutation_p.G331*|MED23_ENST00000540546.1_Nonsense_Mutation_p.G331*|MED23_ENST00000368058.1_Nonsense_Mutation_p.G331*|MED23_ENST00000545957.1_Nonsense_Mutation_p.G14*|MED23_ENST00000354577.4_Nonsense_Mutation_p.G331*|MED23_ENST00000539158.1_Nonsense_Mutation_p.G325*|MED23_ENST00000403834.3_Nonsense_Mutation_p.G331*|MED23_ENST00000368060.3_Nonsense_Mutation_p.G325*	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	325					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TGGCTTGTTCCCCCATCGTCA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	118	120			NA	NA	6		NA											NA				131931290		2203	4300	6503	SO:0001587	stop_gained			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282	9439	9439			2372	protein-coding gene	gene with protein product		605042	cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa	CRSP3	NA	9989412	Standard		NM_004830	NA	Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.973G>T	6.37:g.131931290C>A	ENSP00000357047:p.Gly325*	NA	O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	37	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	C	35	5.420626	0.96111	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546;ENST00000539158	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-0.4066	19.9699	0.97282	0.0:1.0:0.0:0.0	.	.	.	.	X	331;325;331;325;331;14;331;331;325	.	ENSP00000346588:G331X	G	-	1	0	MED23	131972983	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.818000	0.86416	2.730000	0.93505	0.591000	0.81541	GGA	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042215.1		-	ENST00000368068.3	Nonsense_Mutation	SNP	6 : 131931290 - 131931290 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	460	71
SMARCA4	6597	broad.mit.edu	37	19	11105645	11105645	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11105645C>T	ENST00000429416.3	+	10	1842	c.1561C>T	c.(1561-1563)Cgg>Tgg	p.R521W	SMARCA4_ENST00000444061.3_Missense_Mutation_p.R521W|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R521W|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R521W|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R521W|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R521W|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R521W|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R521W|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R521W	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	521	HSA.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AGAGAACGAGCGGATCGAGAA	0.567		NA	F, N, Mis		NSCLC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		19	19p13.2	6597	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4		E	1	Unknown(1)	lung(1)											142	111	121			NA	NA	19		NA											NA				11105645		2203	4300	6503	SO:0001583	missense			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616	6597	6597			11100	protein-coding gene	gene with protein product	SNF2-like 4, global transcription activator homologous sequence, sucrose nonfermenting-like 4, mitotic growth and transcription activator, BRM/SWI2-related gene 1, homeotic gene regulator, nuclear protein GRB1, brahma protein-like 1, ATP-dependent helicase SMARCA4	603254		SNF2L4	NA	8208605	Standard	NM_003072	NM_003072	NA	Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1561C>T	19.37:g.11105645C>T	ENSP00000395654:p.Arg521Trp	NA	O95052|Q9HBD3	37	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.680126	0.47886	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86	4.46	-0.935	0.10423	Helicase/SANT-associated, DNA binding (1);HAS subgroup (1);HSA (1);	0.000000	0.85682	D	0.000000	T	0.72145	0.3424	M	0.91612	3.225	0.52501	D	0.999951	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.994;0.987;0.999;0.999	T	0.79140	-0.1926	10	0.87932	D	0	-32.9408	15.4281	0.75069	0.8024:0.1976:0.0:0.0	.	521;521;521;521;521;521;521	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	W	521	ENSP00000395654:R521W;ENSP00000350720:R521W;ENSP00000343896:R521W;ENSP00000445036:R521W;ENSP00000392837:R521W;ENSP00000397783:R521W;ENSP00000414727:R521W	ENSP00000343896:R521W	R	+	1	2	SMARCA4	10966645	0.953000	0.32496	0.003000	0.11579	0.487000	0.33371	0.223000	0.17719	-0.191000	0.10448	-0.309000	0.09137	CGG	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452638.2		+	ENST00000429416.3	Missense_Mutation	SNP	19 : 11105645 - 11105645 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	136	24
PCMT1	5110	broad.mit.edu	37	6	150114741	150114741	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:150114741C>T	ENST00000464889.1	+	5	812	c.528C>T	c.(526-528)gaC>gaT	p.D176D	PCMT1_ENST00000367378.1_Silent_p.D176D|PCMT1_ENST00000544496.1_Silent_p.D83D|PCMT1_ENST00000367380.5_Silent_p.D118D|PCMT1_ENST00000367384.2_Silent_p.D176D					protein-L-isoaspartate (D-aspartate) O-methyltransferase	NA										kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)		TAGTAGATGACTCAGTAAATA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	78	77			NA	NA	6		NA											NA				150114741		2203	4299	6502	SO:0001819	synonymous_variant				CCDS5219.1, CCDS5219.2, CCDS59041.1, CCDS75533.1, CCDS75534.1	6q22.3-q24	2008-02-05			ENSG00000120265	ENSG00000120265	5110	5110	2.1.1.77		8728	protein-coding gene	gene with protein product		176851			NA	1478665, 10343128	Standard		NM_005389	NA	Approved		uc003qne.3	P22061	OTTHUMG00000015794	ENST00000464889.1:c.528C>T	6.37:g.150114741C>T		NA		37	CCDS5219.2																																																																																			PCMT1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042651.2		+	ENST00000464889.1	Silent	SNP	6 : 150114741 - 150114741 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	283	54
DCAF11	80344	broad.mit.edu	37	14	24587623	24587623	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24587623C>T	ENST00000560171.1	+	0	481				DCAF11_ENST00000446197.3_Nonsense_Mutation_p.R202*|DCAF11_ENST00000396936.1_Nonsense_Mutation_p.R102*|DCAF11_ENST00000559115.1_Nonsense_Mutation_p.R202*|DCAF11_ENST00000396941.4_Nonsense_Mutation_p.R176*			Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	NA						CUL4 RING ubiquitin ligase complex	protein binding				NA						CTATGACTGCCGATATGGCCG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	128	130			NA	NA	14		NA											NA				24587623		2203	4300	6503	SO:0001624	3_prime_UTR_variant			AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897	NA	80344		WD repeat domain containing, DDB1 and CUL4 associated factors	20258	protein-coding gene	gene with protein product		613317	WD repeat domain 23	WDR23	NA		Standard		NM_025230	NA	Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000560171.1:c.*478C>T	14.37:g.24587623C>T		NA	B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	37		.	.	.	.	.	.	.	.	.	.	c	38	7.119805	0.98077	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	.	.	.	5.4	5.4	0.78164	.	0.241692	0.39834	N	0.001245	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-10.2179	11.5785	0.50877	0.1777:0.8223:0.0:0.0	.	.	.	.	X	202;176;102;176	.	ENSP00000323680:R202X	R	+	1	2	DCAF11	23657463	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	2.172000	0.42463	2.805000	0.96524	0.655000	0.94253	CGA	DCAF11-013	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000416451.1		+	ENST00000560171.1	3'UTR	SNP	14 : 24587623 - 24587623 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	631	132
ARHGAP27	201176	broad.mit.edu	37	17	43507638	43507638	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43507638G>T	ENST00000532891.2	-	1	7	c.8C>A	c.(7-9)gCg>gAg	p.A3E	ARHGAP27_ENST00000428638.1_Missense_Mutation_p.A3E|ARHGAP27_ENST00000528273.1_Missense_Mutation_p.A3E|ARHGAP27_ENST00000290470.3_Missense_Mutation_p.A3E|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.A3E			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	3					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CACCACGTCCGCCGCCATCGC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													5	5	5			NA	NA	17		NA											NA				43507638		1549	3369	4918	SO:0001583	missense			AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314	201176	201176		Rho GTPase activating proteins, Pleckstrin homology (PH) domain containing	31813	protein-coding gene	gene with protein product		610591	SH3 domain containing 20	SH3D20	NA	15147912	Standard	NM_199282	NM_199282	NA	Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000532891.2:c.8C>A	17.37:g.43507638G>T	ENSP00000433942:p.Ala3Glu	NA	A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	37		.	.	.	.	.	.	.	.	.	.	G	19.10	3.761006	0.69763	.	.	ENSG00000159314	ENST00000532891;ENST00000428638;ENST00000442348;ENST00000528273;ENST00000290470	T;T;T;T;T	0.54071	2.94;2.99;2.9;0.59;0.59	3.43	3.43	0.39272	.	.	.	.	.	T	0.65154	0.2664	L	0.59436	1.845	0.25090	N	0.990867	D	0.71674	0.998	D	0.79108	0.992	T	0.51772	-0.8663	9	0.51188	T	0.08	.	8.7851	0.34816	0.0:0.2329:0.7671:0.0	.	3	Q6ZUM4-4	.	E	3	ENSP00000433942:A3E;ENSP00000403323:A3E;ENSP00000409330:A3E;ENSP00000436137:A3E;ENSP00000290470:A3E	ENSP00000290470:A3E	A	-	2	0	ARHGAP27	40863421	0.985000	0.35326	1.000000	0.80357	0.899000	0.52679	1.837000	0.39201	1.816000	0.52996	0.449000	0.29647	GCG	ARHGAP27-009	NOVEL	not_organism_supported|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000392250.2		-	ENST00000532891.2	Missense_Mutation	SNP	17 : 43507638 - 43507638 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	79	16
CCNJL	79616	broad.mit.edu	37	5	159738895	159738895	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159738895G>A	ENST00000393977.3	-	2	321	c.36C>T	c.(34-36)gcC>gcT	p.A12A	CCNJL_ENST00000541762.1_Silent_p.A11A|CCNJL_ENST00000505287.2_Intron|CCNJL_ENST00000519673.1_Silent_p.A12A|CCNJL_ENST00000377503.2_Intron|CCNJL_ENST00000257536.7_Silent_p.A12A	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	12						nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGACGTCCGAGGCGACGCGCC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	85	81			NA	NA	5		NA											NA				159738895		2152	4246	6398	SO:0001819	synonymous_variant			BC013353	CCDS4350.2	5q33.3	2008-10-31			ENSG00000135083	ENSG00000135083	79616	79616			25876	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024565	XM_005265982	NA	Approved	FLJ14166	uc003lyb.1	Q8IV13	OTTHUMG00000130325	ENST00000393977.3:c.36C>T	5.37:g.159738895G>A		NA	Q6ZN43|Q9H7W8	37	CCDS4350.2																																																																																			CCNJL-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252674.1		-	ENST00000393977.3	Silent	SNP	5 : 159738895 - 159738895 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	573	92
ATG14	22863	broad.mit.edu	37	14	55844555	55844555	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55844555C>T	ENST00000247178.5	-	9	1189	c.1154G>A	c.(1153-1155)aGc>aAc	p.S385N		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	385					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						GTGTTCAGAGCTTGGACTGAC	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	88	91			NA	NA	14		NA											NA				55844555		2203	4300	6503	SO:0001583	missense			AB020638	CCDS32087.1	14q22.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000126775	ENSG00000126775	22863	22863			19962	protein-coding gene	gene with protein product	Barkor, beclin 1-associated autophagy-related key regulator	613515	KIAA0831, ATG14 autophagy related 14 homolog (S. cerevisiae)	KIAA0831	NA	18843052	Standard	NM_014924	NM_014924	NA	Approved	ATG14L	uc001xbx.2	Q6ZNE5	OTTHUMG00000172129	ENST00000247178.5:c.1154G>A	14.37:g.55844555C>T	ENSP00000247178:p.Ser385Asn	NA	A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	37	CCDS32087.1	.	.	.	.	.	.	.	.	.	.	c	2.918	-0.223818	0.06061	.	.	ENSG00000126775	ENST00000247178	T	0.31510	1.49	5.09	-0.951	0.10369	.	0.635584	0.18055	N	0.153126	T	0.15869	0.0382	N	0.19112	0.55	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.27297	-1.0078	10	0.18710	T	0.47	-6.6774	9.6758	0.40039	0.0:0.3217:0.0:0.6783	.	385	Q6ZNE5	BAKOR_HUMAN	N	385	ENSP00000247178:S385N	ENSP00000247178:S385N	S	-	2	0	ATG14	54914308	0.948000	0.32251	0.020000	0.16555	0.523000	0.34469	0.804000	0.27098	-0.303000	0.08856	-0.469000	0.05056	AGC	ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416992.1		-	ENST00000247178.5	Missense_Mutation	SNP	14 : 55844555 - 55844555 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	225	34
PREPL	9581	broad.mit.edu	37	2	44547732	44547732	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44547732G>A	ENST00000409411.1	-	0	2894				PREPL_ENST00000409957.1_3'UTR|PREPL_ENST00000409936.1_3'UTR|PREPL_ENST00000541738.1_3'UTR|SLC3A1_ENST00000409380.1_Missense_Mutation_p.R393Q|SLC3A1_ENST00000260649.6_Missense_Mutation_p.R671Q|SLC3A1_ENST00000409740.3_Missense_Mutation_p.R302Q	NM_001171613.1	NP_001165084.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	NA					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GTTTCCAATCGAGCATGCTAT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	73	78			NA	NA	2		NA											NA				44547732		2203	4300	6503	SO:0001624	3_prime_UTR_variant			AB007896	CCDS33190.1, CCDS42675.1, CCDS42676.1, CCDS54353.1	2p22.1	2008-02-05			ENSG00000138078	ENSG00000138078	9581	9581			30228	protein-coding gene	gene with protein product		609557			NA	11524703	Standard	NM_006036	NM_006036	NA	Approved	KIAA0436	uc002ruk.2	Q4J6C6	OTTHUMG00000152791	ENST00000409411.1:c.*763C>T	2.37:g.44547732G>A		NA	A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	37	CCDS54353.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347062	0.82022	.	.	ENSG00000138079	ENST00000260649;ENST00000540334;ENST00000409380;ENST00000409740	D;D;D	0.99129	-5.46;-4.86;-4.55	5.99	0.529	0.17095	.	0.164236	0.52532	N	0.000062	D	0.96772	0.8946	M	0.68317	2.08	0.58432	D	0.999999	P	0.50066	0.931	B	0.36378	0.223	D	0.93093	0.6501	10	0.66056	D	0.02	-4.4218	8.1944	0.31387	0.6839:0.0:0.3161:0.0	.	671	Q07837	SLC31_HUMAN	Q	671;607;393;302	ENSP00000260649:R671Q;ENSP00000386709:R393Q;ENSP00000386677:R302Q	ENSP00000260649:R671Q	R	+	2	0	SLC3A1	44401236	1.000000	0.71417	0.010000	0.14722	0.823000	0.46562	3.321000	0.51999	0.146000	0.19002	-0.768000	0.03414	CGA	PREPL-007	NOVEL	alternative_5_UTR|not_organism_supported|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327899.6		-	ENST00000409411.1	3'UTR	SNP	2 : 44547732 - 44547732 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	297	41
SON	6651	broad.mit.edu	37	21	34923064	34923064	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34923064G>A	ENST00000381679.4	+	3	1555	c.1527G>A	c.(1525-1527)acG>acA	p.T509T	SON_ENST00000290239.6_Silent_p.T509T|SON_ENST00000300278.4_Silent_p.T509T|SON_ENST00000381692.2_Intron|SON_ENST00000356577.4_Silent_p.T509T			P18583	SON_HUMAN	SON DNA binding protein	509					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AACCTGTGACGACGACAGAGT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	141	140			NA	NA	21		NA											NA				34923064		2203	4300	6503	SO:0001819	synonymous_variant			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140	6651	6651		G patch domain containing	11183	protein-coding gene	gene with protein product	NRE-binding protein, negative regulatory element-binding protein, Bax antagonist selected in Saccharomyces 1	182465		C21orf50	NA	8318737, 21551269	Standard	NM_138927	NM_032195	NA	Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000381679.4:c.1527G>A	21.37:g.34923064G>A		NA	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	37																																																																																				SON-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000140982.3		+	ENST00000381679.4	Silent	SNP	21 : 34923064 - 34923064 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	880	89
ZNF496	84838	broad.mit.edu	37	1	247463872	247463872	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247463872G>A	ENST00000294753.4	-	9	2177	c.1713C>T	c.(1711-1713)caC>caT	p.H571H	ZNF496_ENST00000366498.2_Silent_p.H607H|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	571					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GCAGGCGCTCGTGGCGGAGGA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	56	55			NA	NA	1		NA											NA				247463872		2203	4300	6503	SO:0001819	synonymous_variant			BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714	84838	84838		Zinc fingers, C2H2-type, -, -, -	23713	protein-coding gene	gene with protein product		613911			NA	12477932	Standard	NM_032752	NM_032752	NA	Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1713C>T	1.37:g.247463872G>A		NA	Q8TBS2	37	CCDS1631.1																																																																																			ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000098655.2		-	ENST00000294753.4	Silent	SNP	1 : 247463872 - 247463872 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	391	41
BBS12	166379	broad.mit.edu	37	4	123663084	123663084	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123663084C>A	ENST00000314218.3	+	2	230	c.37C>A	c.(37-39)Cac>Aac	p.H13N	BBS12_ENST00000542236.1_Missense_Mutation_p.H13N	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	13					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						CAAAAGAAGACACATGGGACT	0.333		NA							Bardet-Biedl syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	84	85			NA	NA	4		NA											NA				123663084		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004	166379	166379		Heat Shock Proteins / Chaperonins	26648	protein-coding gene	gene with protein product		610683	chromosome 4 open reading frame 24	C4orf24	NA	17160889	Standard	NM_152618	NM_001178007	NA	Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.37C>A	4.37:g.123663084C>A	ENSP00000319062:p.His13Asn	NA	D3DNX5|Q7Z342|Q7Z482|Q8NAB8	37	CCDS3728.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262943	0.80358	.	.	ENSG00000181004	ENST00000314218;ENST00000542236;ENST00000433287	T;T;T	0.69040	-0.37;-0.37;-0.37	4.9	4.9	0.64082	.	0.056728	0.64402	D	0.000002	T	0.80486	0.4632	M	0.66939	2.045	0.48341	D	0.999632	D	0.89917	1.0	D	0.69307	0.963	T	0.82733	-0.0311	10	0.72032	D	0.01	-2.5257	18.47	0.90769	0.0:1.0:0.0:0.0	.	13	Q6ZW61	BBS12_HUMAN	N	13	ENSP00000319062:H13N;ENSP00000438273:H13N;ENSP00000398912:H13N	ENSP00000319062:H13N	H	+	1	0	BBS12	123882534	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	5.137000	0.64789	2.430000	0.82344	0.585000	0.79938	CAC	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256710.1		+	ENST00000314218.3	Missense_Mutation	SNP	4 : 123663084 - 123663084 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	67
UNC13C	440279	broad.mit.edu	37	15	54586236	54586236	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54586236G>A	ENST00000260323.11	+	10	3962	c.3962G>A	c.(3961-3963)gGa>gAa	p.G1321E	UNC13C_ENST00000545554.1_Missense_Mutation_p.G1321E|UNC13C_ENST00000537900.1_Missense_Mutation_p.G1319E	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1321					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACCTTGAGTGGAGAAATGGAT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													231	233	233			NA	NA	15		NA											NA				54586236		1871	4103	5974	SO:0001583	missense			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766	440279	440279			23149	protein-coding gene	gene with protein product		614568			NA		Standard	NM_173166	NM_001080534	NA	Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3962G>A	15.37:g.54586236G>A	ENSP00000260323:p.Gly1321Glu	NA	Q0P613|Q8ND48|Q96NP3	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915595	0.92178	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.72051	-0.62;-0.62;-0.62	5.91	5.91	0.95273	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.86197	0.5875	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87113	0.2186	10	0.87932	D	0	.	19.2934	0.94112	0.0:0.0:1.0:0.0	.	1321;1321	F5H090;Q8NB66	.;UN13C_HUMAN	E	1321;1321;1319	ENSP00000260323:G1321E;ENSP00000438156:G1321E;ENSP00000442569:G1319E	ENSP00000260323:G1321E	G	+	2	0	UNC13C	52373528	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.814000	0.96858	0.650000	0.86243	GGA	UNC13C-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419028.3		+	ENST00000260323.11	Missense_Mutation	SNP	15 : 54586236 - 54586236 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	889	154
SUSD4	55061	broad.mit.edu	37	1	223465901	223465901	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223465901C>A	ENST00000343846.3	-	2	874	c.241G>T	c.(241-243)Gcc>Tcc	p.A81S	SUSD4_ENST00000366878.4_Missense_Mutation_p.A81S|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000494793.2_Missense_Mutation_p.A81S|SUSD4_ENST00000484758.2_Intron|SUSD4_ENST00000344029.6_Missense_Mutation_p.A81S			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	81	Sushi 1.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		TGAAATCGGGCTACAGAGCCT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	100	97			NA	NA	1		NA											NA				223465901		2203	4300	6503	SO:0001583	missense			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502	55061	55061			25470	protein-coding gene	gene with protein product		615827			NA	12477932	Standard	NM_017982	NM_017982	NA	Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.241G>T	1.37:g.223465901C>A	ENSP00000344219:p.Ala81Ser	NA	D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	37	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831577	0.50845	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000271787;ENST00000344029	T;T;T	0.65916	-0.18;-0.18;-0.18	5.36	-1.69	0.08186	Complement control module (2);Sushi/SCR/CCP (3);	0.782085	0.11216	N	0.587210	T	0.51736	0.1692	L	0.56280	1.765	0.80722	D	1	B;B	0.12013	0.001;0.005	B;B	0.15484	0.003;0.013	T	0.46048	-0.9219	10	0.87932	D	0	-9.9019	6.24	0.20785	0.1737:0.5783:0.0:0.248	.	81;81	Q5VX71-3;Q5VX71	.;SUSD4_HUMAN	S	81	ENSP00000344219:A81S;ENSP00000355843:A81S;ENSP00000339926:A81S	ENSP00000271787:A81S	A	-	1	0	SUSD4	221532524	0.949000	0.32298	0.931000	0.37212	0.952000	0.60782	0.340000	0.19892	-0.230000	0.09840	-0.340000	0.08031	GCC	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092592.2		-	ENST00000343846.3	Missense_Mutation	SNP	1 : 223465901 - 223465901 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	836	244
TAF1C	9013	broad.mit.edu	37	16	84213008	84213008	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84213008G>T	ENST00000567759.1	-	14	2331	c.2149C>A	c.(2149-2151)Ctc>Atc	p.L717I	TAF1C_ENST00000541676.1_Missense_Mutation_p.L624I|TAF1C_ENST00000341690.6_Missense_Mutation_p.L623I|TAF1C_ENST00000570117.1_Missense_Mutation_p.L385I|TAF1C_ENST00000378541.4_Missense_Mutation_p.L717I|TAF1C_ENST00000566732.1_Missense_Mutation_p.L691I	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	717					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						CGCTCACTGAGCTTGTCCTCT	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	26	25			NA	NA	16		NA											NA				84213008		2198	4294	6492	SO:0001583	missense			L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168	9013	9013			11534	protein-coding gene	gene with protein product		604905	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD		NA	7801123	Standard	NM_139353	NM_005679	NA	Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.2149C>A	16.37:g.84213008G>T	ENSP00000455265:p.Leu717Ile	NA	B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	37	CCDS32496.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440383	0.63067	.	.	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690;ENST00000544090	T;T;T	0.02709	4.19;4.19;4.19	5.14	3.97	0.46021	.	0.117523	0.33834	N	0.004508	T	0.11793	0.0287	M	0.72118	2.19	0.28389	N	0.919179	D;D;D;D	0.76494	0.999;0.999;0.998;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.00520	-1.1692	10	0.87932	D	0	-37.0793	9.4541	0.38745	0.1147:0.0:0.8853:0.0	.	691;240;717;623	Q15572-6;F5H0H4;Q15572;Q15572-2	.;.;TAF1C_HUMAN;.	I	717;624;623;240	ENSP00000367802:L717I;ENSP00000437900:L624I;ENSP00000345305:L623I	ENSP00000345305:L623I	L	-	1	0	TAF1C	82770509	0.812000	0.29077	0.998000	0.56505	0.707000	0.40811	1.602000	0.36783	2.390000	0.81377	0.561000	0.74099	CTC	TAF1C-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000433045.2		-	ENST00000567759.1	Missense_Mutation	SNP	16 : 84213008 - 84213008 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	333	25
GABRB3	2562	broad.mit.edu	37	15	27017577	27017577	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27017577C>A	ENST00000541819.2	-	4	482	c.380G>T	c.(379-381)aGc>aTc	p.S127I	GABRB3_ENST00000299267.4_Missense_Mutation_p.S71I|GABRB3_ENST00000557641.1_5'UTR|GABRB3_ENST00000311550.5_Missense_Mutation_p.S71I			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	71					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CATGTCGATGCTGGCGATGTC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	35	37			NA	NA	15		NA											NA				27017577		2198	4299	6497	SO:0001583	missense				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206	2562	2562		GABA receptors, Ligand-gated ion channels / GABA(A) receptors	4083	protein-coding gene	gene with protein product	GABA(A) receptor, beta 3	137192			NA		Standard		NM_000814	NA	Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000541819.2:c.380G>T	15.37:g.27017577C>A	ENSP00000442408:p.Ser127Ile	NA	Q14352|Q96FM5	37		.	.	.	.	.	.	.	.	.	.	C	20.1	3.934442	0.73442	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267	T;T;T	0.80738	-1.41;-1.41;-1.41	4.57	4.57	0.56435	Neurotransmitter-gated ion-channel ligand-binding (3);	0.091921	0.85682	D	0.000000	D	0.92977	0.7765	H	0.97240	3.965	0.80722	D	1	D;P;D	0.65815	0.995;0.917;0.993	D;P;D	0.67900	0.917;0.813;0.954	D	0.95584	0.8649	10	0.87932	D	0	.	15.9295	0.79648	0.0:1.0:0.0:0.0	.	127;71;71	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	I	71;127;71	ENSP00000308725:S71I;ENSP00000442408:S127I;ENSP00000299267:S71I	ENSP00000299267:S71I	S	-	2	0	GABRB3	24568670	1.000000	0.71417	1.000000	0.80357	0.096000	0.18686	6.560000	0.73950	2.063000	0.61619	0.313000	0.20887	AGC	GABRB3-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000414986.2		-	ENST00000541819.2	Missense_Mutation	SNP	15 : 27017577 - 27017577 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	103	22
PRKCI	5584	broad.mit.edu	37	3	170009678	170009678	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170009678T>C	ENST00000295797.4	+	13	1545	c.1240T>C	c.(1240-1242)Tgt>Cgt	p.C414R		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	414	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CAGCACTTTCTGTGGTACTCC	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	60	60			NA	NA	3		NA											NA				170009678		2203	4296	6499	SO:0001583	missense				CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	5584	5584	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E	NA	7607695, 11978974	Standard	NM_002740	NM_002740	NA	Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.1240T>C	3.37:g.170009678T>C	ENSP00000295797:p.Cys414Arg	NA	D3DNQ4|Q8WW06	37	CCDS3212.2	.	.	.	.	.	.	.	.	.	.	T	21.5	4.157508	0.78114	.	.	ENSG00000163558	ENST00000295797	T	0.66638	-0.22	5.21	5.21	0.72293	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83681	0.5307	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86293	0.1675	9	.	.	.	.	15.3646	0.74510	0.0:0.0:0.0:1.0	.	414	P41743	KPCI_HUMAN	R	414	ENSP00000295797:C414R	.	C	+	1	0	PRKCI	171492372	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.669000	0.83911	2.078000	0.62432	0.482000	0.46254	TGT	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316866.3		+	ENST00000295797.4	Missense_Mutation	SNP	3 : 170009678 - 170009678 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	44
GRK6	2870	broad.mit.edu	37	5	176867757	176867757	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176867757G>A	ENST00000393576.3	+	14	1411	c.1359G>A	c.(1357-1359)aaG>aaA	p.K453K	GRK6_ENST00000355472.5_Silent_p.K487K|GRK6_ENST00000528793.1_Silent_p.K487K|GRK6_ENST00000355958.5_Silent_p.K487K|PRR7-AS1_ENST00000425316.3_RNA			P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	487	AGC-kinase C-terminal.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTACGGTCAAGGGCGTGGAGC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	92	94			NA	NA	5		NA											NA				176867757		2203	4300	6503	SO:0001819	synonymous_variant				CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055	2870	2870			4545	protein-coding gene	gene with protein product		600869		GPRK6	NA	8415712	Standard	NM_002082	NM_002082	NA	Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000393576.3:c.1359G>A	5.37:g.176867757G>A		NA	O60541|Q13652	37																																																																																				GRK6-011	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000387002.1		+	ENST00000393576.3	Silent	SNP	5 : 176867757 - 176867757 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	465	105
MYF5	4617	broad.mit.edu	37	12	81111235	81111235	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81111235C>T	ENST00000228644.3	+	1	545	c.393C>T	c.(391-393)atC>atT	p.I131I		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	131	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TCCGCTACATCGAGAGCCTGC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	96	96			NA	NA	12		NA											NA				81111235		2203	4300	6503	SO:0001819	synonymous_variant				CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049	4617	4617		Basic helix-loop-helix proteins	7565	protein-coding gene	gene with protein product		159990			NA	8978788, 12105204	Standard	NM_005593	NM_005593	NA	Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.393C>T	12.37:g.81111235C>T		NA	Q6ISR9	37	CCDS9020.1																																																																																			MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407757.1		+	ENST00000228644.3	Silent	SNP	12 : 81111235 - 81111235 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	848	146
C3orf38	285237	broad.mit.edu	37	3	88205397	88205397	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:88205397G>A	ENST00000486971.1	+	0	562				C3orf38_ENST00000318887.3_Missense_Mutation_p.R201H			Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	NA					apoptosis					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		GTGAGCCTTCGTTTGCTGTCA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	124	118	120		602	5.5	1	3		120	1,8599	1.2+/-3.3	0,1,4299	no	missense	C3orf38	NM_173824.3	29	0,2,6501	AA,AG,GG	NA	0.0116,0.0227,0.0154	probably-damaging	201/330	88205397	2,13004	2203	4300	6503	SO:0001624	3_prime_UTR_variant			AL832398	CCDS2921.1, CCDS2921.2	3p11.1	2011-01-25			ENSG00000179021	ENSG00000179021	285237	285237			28384	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_173824	NM_173824	NA	Approved	MGC26717	uc003dqw.3	Q5JPI3	OTTHUMG00000155752	ENST00000486971.1:c.*73G>A	3.37:g.88205397G>A		NA	B2R8X6|Q8TC85	37		.	.	.	.	.	.	.	.	.	.	G	17.25	3.342840	0.61073	2.27E-4	1.16E-4	ENSG00000179021	ENST00000318887	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	L	0.55743	1.74	0.80722	D	1	B	0.34349	0.45	B	0.28465	0.09	T	0.63712	-0.6575	9	0.87932	D	0	-15.7301	18.7992	0.92008	0.0:0.0:1.0:0.0	.	201	Q5JPI3	CC038_HUMAN	H	201	.	ENSP00000322469:R201H	R	+	2	0	C3orf38	88288087	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	8.873000	0.92357	2.751000	0.94390	0.557000	0.71058	CGT	C3orf38-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000353437.1		+	ENST00000486971.1	3'UTR	SNP	3 : 88205397 - 88205397 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	558	133
WAC	51322	broad.mit.edu	37	10	28897207	28897207	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28897207A>G	ENST00000375664.4	+	8	1486	c.877A>G	c.(877-879)Aca>Gca	p.T293A	WAC_ENST00000428935.1_Missense_Mutation_p.T293A|WAC_ENST00000354911.4_Missense_Mutation_p.T338A|WAC_ENST00000375646.1_Missense_Mutation_p.T190A|WAC_ENST00000347934.4_Missense_Mutation_p.T235A			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	NA					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TGCACCTCCAACATCTGCTTC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	121	126			NA	NA	10		NA											NA				28897207		2203	4300	6503	SO:0001583	missense			AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787	51322	51322			17327	protein-coding gene	gene with protein product		615049	WW domain-containing adaptor with coiled coil		NA	11827461	Standard	NM_100264	NR_024557	NA	Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000375664.4:c.877A>G	10.37:g.28897207A>G	ENSP00000364816:p.Thr293Ala	NA	A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	37		.	.	.	.	.	.	.	.	.	.	A	12.08	1.829402	0.32329	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911;ENST00000428935;ENST00000424454;ENST00000538000	T;T;T;T;T	0.33654	1.94;1.97;2.01;1.94;1.4	5.38	1.27	0.21489	.	0.539484	0.22346	N	0.061262	T	0.11537	0.0281	N	0.03608	-0.345	0.36342	D	0.859534	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.15723	-1.0427	10	0.09338	T	0.73	-5.1968	3.9112	0.09204	0.5186:0.0:0.1898:0.2916	.	293;235;338	Q9BTA9-2;Q9BTA9-5;Q9BTA9	.;.;WAC_HUMAN	A	293;190;235;338;293;293;293	ENSP00000364816:T293A;ENSP00000364797:T190A;ENSP00000311106:T235A;ENSP00000346986:T338A;ENSP00000399706:T293A	ENSP00000311106:T235A	T	+	1	0	WAC	28937213	0.998000	0.40836	0.996000	0.52242	0.979000	0.70002	3.518000	0.53451	0.369000	0.24510	0.482000	0.46254	ACA	WAC-016	KNOWN	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000047370.2		+	ENST00000375664.4	Missense_Mutation	SNP	10 : 28897207 - 28897207 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	502	54
MYOM3	127294	broad.mit.edu	37	1	24419480	24419480	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24419480C>T	ENST00000374434.3	-	10	1209	c.1047G>A	c.(1045-1047)tcG>tcA	p.S349S	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000330966.7_Silent_p.S350S|MYOM3_ENST00000329601.7_Silent_p.S349S	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	349	Ig-like C2-type 2.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GTCCGAAGGGCGAGGGCACCC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	34	32			NA	NA	1		NA											NA				24419480		1985	4139	6124	SO:0001819	synonymous_variant			AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661	127294	127294		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	26679	protein-coding gene	gene with protein product			myomesin family, member 3		NA	18177667	Standard	NM_152372	NM_152372	NA	Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.1047G>A	1.37:g.24419480C>T		NA	A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	37	CCDS41281.1																																																																																			MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000008272.2		-	ENST00000374434.3	Silent	SNP	1 : 24419480 - 24419480 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	126	17
C5orf45	51149	broad.mit.edu	37	5	179269014	179269014	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179269014G>A	ENST00000518219.1	-	5	353	c.342C>T	c.(340-342)gaC>gaT	p.D114D	C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000403396.2_Silent_p.D156D|C5orf45_ENST00000518235.1_Silent_p.D114D|C5orf45_ENST00000292586.6_Silent_p.D114D|C5orf45_ENST00000376931.2_Silent_p.D59D|C5orf45_ENST00000520698.1_Silent_p.D59D|C5orf45_ENST00000521333.1_Intron|C5orf45_ENST00000523084.1_5'UTR			Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	114										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						GTTCTTGGGAGTCCTTTTCTA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													261	281	274			NA	NA	5		NA											NA				179269014		2203	4300	6503	SO:0001819	synonymous_variant				CCDS34318.1, CCDS34319.1	5q35.3	2008-07-10			ENSG00000161010	ENSG00000161010	51149	51149			30817	protein-coding gene	gene with protein product	truncated calcium binding protein				NA		Standard	NM_016175	NM_016175	NA	Approved	MGC65027, MGC78537, DKFZp686L2452, LOC51149	uc003mla.3	Q6NTE8	OTTHUMG00000163490	ENST00000518219.1:c.342C>T	5.37:g.179269014G>A		NA	B5MD09|Q7Z3D8|Q9BUC1|Q9UN54	37																																																																																				C5orf45-006	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000374336.1		-	ENST00000518219.1	Silent	SNP	5 : 179269014 - 179269014 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2370	504
RING1	6015	broad.mit.edu	37	6	33179615	33179615	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33179615C>T	ENST00000374656.4	+	6	1163	c.955C>T	c.(955-957)Cct>Tct	p.P319S	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	319	Gly-rich.|Necessary for interaction with CBX2 (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						GCCAGGAGGGCCTGGAGGGGG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	42	41			NA	NA	6		NA											NA				33179615		2203	4298	6501	SO:0001583	missense				CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227	6015	6015		RING-type (C3HC4) zinc fingers	10018	protein-coding gene	gene with protein product		602045			NA	1906426	Standard		NM_002931	NA	Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.955C>T	6.37:g.33179615C>T	ENSP00000363787:p.Pro319Ser	NA	Q5JP96|Q5SQW2|Q86V19	37	CCDS34424.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465674	0.43839	.	.	ENSG00000204227	ENST00000374656	D	0.83163	-1.69	4.19	3.32	0.38043	.	0.365598	0.20926	N	0.083198	T	0.41926	0.1180	N	0.08118	0	0.30485	N	0.771968	B	0.18310	0.027	B	0.17098	0.017	T	0.15636	-1.0430	10	0.14252	T	0.57	-6.4677	7.6128	0.28139	0.0:0.8838:0.0:0.1162	.	319	Q06587	RING1_HUMAN	S	319	ENSP00000363787:P319S	ENSP00000363787:P319S	P	+	1	0	RING1	33287593	0.995000	0.38212	1.000000	0.80357	0.891000	0.51852	2.150000	0.42254	0.958000	0.37956	0.448000	0.29417	CCT	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076609.2		+	ENST00000374656.4	Missense_Mutation	SNP	6 : 33179615 - 33179615 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	281	54
ARHGAP11B	89839	broad.mit.edu	37	15	30925773	30925773	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30925773G>A	ENST00000428041.2	+	3	426	c.281G>A	c.(280-282)cGc>cAc	p.R94H		NM_001039841.1	NP_001034930.1	Q3KRB8	RHGBB_HUMAN	Rho GTPase activating protein 11B	94	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		TCTGTGATTCGCCTAAAAGCA	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	79	77			NA	NA	15		NA											NA				30925773		2202	4300	6502	SO:0001583	missense			BC105788	CCDS32185.1	15q13.2	2011-07-13				ENSG00000187951	89839	89839		Rho GTPase activating proteins	15782	protein-coding gene	gene with protein product	GAP (1-8)		family with sequence similarity 7, member B1	FAM7B1	NA	11829490	Standard	NM_001039841	NM_001039841	NA	Approved	B'-T	uc001zet.1	Q3KRB8		ENST00000428041.2:c.281G>A	15.37:g.30925773G>A	ENSP00000392760:p.Arg94His	NA		37	CCDS32185.1	.	.	.	.	.	.	.	.	.	.	.	14.01	2.406947	0.42715	.	.	ENSG00000187951	ENST00000428041	T	0.20069	2.1	1.94	0.99	0.19807	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.47093	U	0.000254	T	0.39489	0.1080	M	0.76002	2.32	0.45515	D	0.998477	D	0.89917	1.0	D	0.91635	0.999	T	0.15150	-1.0447	10	0.72032	D	0.01	.	6.5968	0.22679	0.1673:0.0:0.8327:0.0	.	94	Q3KRB8	RHGBB_HUMAN	H	94	ENSP00000392760:R94H	ENSP00000392760:R94H	R	+	2	0	ARHGAP11B	28713065	1.000000	0.71417	0.978000	0.43139	0.479000	0.33129	7.878000	0.87231	0.364000	0.24374	0.384000	0.25694	CGC	ARHGAP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000430729.1		+	ENST00000428041.2	Missense_Mutation	SNP	15 : 30925773 - 30925773 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	447	75
FZD8	8325	broad.mit.edu	37	10	35929026	35929026	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35929026G>A	ENST00000374694.1	-	1	1336	c.1332C>T	c.(1330-1332)gcC>gcT	p.A444A		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	444					axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						CAAGCCACGCGGCCAGGTGGA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	31	31			NA	NA	10		NA											NA				35929026		2202	4300	6502	SO:0001819	synonymous_variant			AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283	8325	8325		GPCR / Class F : Frizzled receptors	4046	protein-coding gene	gene with protein product		606146	frizzled (Drosophila) homolog 8, frizzled homolog 8 (Drosophila), frizzled 8, seven transmembrane spanning receptor, frizzled family receptor 8		NA	11295046	Standard	NM_031866	NM_031866	NA	Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.1332C>T	10.37:g.35929026G>A		NA		37	CCDS7192.1																																																																																			FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047575.2		-	ENST00000374694.1	Silent	SNP	10 : 35929026 - 35929026 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	158	7
JUNB	3726	broad.mit.edu	37	19	12903500	12903500	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12903500C>T	ENST00000302754.4	+	1	1191	c.915C>T	c.(913-915)gcC>gcT	p.A305A		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	305	Leucine-zipper.					chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						CGCTCAAGGCCGAGAACGCGG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	21	21			NA	NA	19		NA											NA				12903500		2196	4294	6490	SO:0001819	synonymous_variant			M29039	CCDS12280.1	19p13.13	2013-01-10				ENSG00000171223	3726	3726		basic leucine zipper proteins	6205	protein-coding gene	gene with protein product		165161			NA	2513129	Standard	NM_002229	NM_002229	NA	Approved		uc002mvc.3	P17275		ENST00000302754.4:c.915C>T	19.37:g.12903500C>T		NA	Q96GH3	37	CCDS12280.1																																																																																			JUNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451015.1		+	ENST00000302754.4	Silent	SNP	19 : 12903500 - 12903500 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	36	4
KIAA0100	9703	broad.mit.edu	37	17	26969931	26969931	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26969931A>C	ENST00000528896.2	-	5	545	c.471T>G	c.(469-471)atT>atG	p.I157M	KIAA0100_ENST00000544884.1_Missense_Mutation_p.I14M|KIAA0100_ENST00000389003.3_Missense_Mutation_p.I14M	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	157						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TACTGATCTGAATATGCCATA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	111	113			NA	NA	17		NA											NA				26969931		2203	4300	6503	SO:0001583	missense			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202	9703	9703			28960	protein-coding gene	gene with protein product	cancer/testis antigen 101, breast cancer overexpressed gene 1	610664			NA	16289875	Standard	NM_014680	NM_014680	NA	Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.471T>G	17.37:g.26969931A>C	ENSP00000436773:p.Ile157Met	NA	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	37	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	A	9.171	1.021157	0.19433	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.25085	1.83;1.82	5.39	-1.97	0.07503	FMP27, N-terminal (1);	0.044276	0.85682	D	0.000000	T	0.12603	0.0306	N	0.11201	0.11	0.27554	N	0.950413	P;P;B	0.45715	0.865;0.607;0.025	P;B;B	0.46585	0.521;0.28;0.023	T	0.20974	-1.0259	10	0.36615	T	0.2	.	4.6376	0.12531	0.2117:0.1394:0.5128:0.1361	.	14;157;157	Q14667-4;F6XS94;Q14667	.;.;K0100_HUMAN	M	157;157;157;14	ENSP00000436773:I157M;ENSP00000446443:I14M	ENSP00000005905:I157M	I	-	3	3	KIAA0100	23994058	1.000000	0.71417	0.986000	0.45419	0.966000	0.64601	1.681000	0.37618	-0.440000	0.07211	-1.400000	0.01143	ATT	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390571.3		-	ENST00000528896.2	Missense_Mutation	SNP	17 : 26969931 - 26969931 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	56
PIGO	84720	broad.mit.edu	37	9	35093540	35093540	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35093540C>T	ENST00000378617.3	-	5	1211	c.817G>A	c.(817-819)Gta>Ata	p.V273I	PIGO_ENST00000298004.5_Missense_Mutation_p.V273I|PIGO_ENST00000361778.2_Missense_Mutation_p.V273I|PIGO_ENST00000341666.3_Missense_Mutation_p.V273I	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	273					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCAGCCACTACCAGCAGTGTG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	48	48			NA	NA	9		NA											NA				35093540		2203	4300	6503	SO:0001583	missense			AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282	84720	84720		Phosphatidylinositol glycan anchor biosynthesis	23215	protein-coding gene	gene with protein product		614730	phosphatidylinositol glycan, class O		NA	10781593	Standard	NM_032634	NM_032634	NA	Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.817G>A	9.37:g.35093540C>T	ENSP00000367880:p.Val273Ile	NA	B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	37	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991476	0.74703	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.55	5.55	0.83447	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.285709	0.34386	N	0.004009	T	0.22513	0.0543	N	0.17901	0.54	0.45318	D	0.998311	P;B	0.46512	0.879;0.091	P;B	0.45639	0.488;0.114	T	0.01036	-1.1473	10	0.25106	T	0.35	-22.0031	9.7401	0.40413	0.1326:0.6196:0.2478:0.0	.	273;273	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	I	273	ENSP00000298004:V273I;ENSP00000367880:V273I;ENSP00000339382:V273I;ENSP00000354678:V273I	ENSP00000298004:V273I	V	-	1	0	PIGO	35083540	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.673000	0.46858	2.894000	0.99253	0.655000	0.94253	GTA	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052284.1		-	ENST00000378617.3	Missense_Mutation	SNP	9 : 35093540 - 35093540 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	169	17
SH3GL1	6455	broad.mit.edu	37	19	4400336	4400336	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4400336G>A	ENST00000269886.3	-	1	208	c.30C>T	c.(28-30)ttC>ttT	p.F10F	SH3GL1_ENST00000417295.2_Silent_p.F10F|SH3GL1_ENST00000598564.1_Silent_p.F10F	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	10	Membrane-binding amphipathic helix (By similarity).				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		TCGCCTTGTAGAACTGCTTCT	0.771		NA	T	MLL	AL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(94;1152 2133 30346 33362)		Dom	yes		19	19p13.3	6455	SH3-domain GRB2-like 1 (EEN)		L	0													10	12	11			NA	NA	19		NA											NA				4400336		2131	4172	6303	SO:0001819	synonymous_variant				CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22					6455	6455			10830	protein-coding gene	gene with protein product	extra 11-19 leukemia fusion, fusion partner of MLL, SH3-containing Grb-2-like 1 protein, SH3-containing protein EEN, SH3 domain GRB2-like 1	601768			NA	9169142	Standard	NM_003025	NM_003025	NA	Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.30C>T	19.37:g.4400336G>A		NA	Q99668	37	CCDS32874.1																																																																																			SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458302.1		-	ENST00000269886.3	Silent	SNP	19 : 4400336 - 4400336 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	256	28
SEMA6D	80031	broad.mit.edu	37	15	48056061	48056061	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48056061C>T	ENST00000316364.5	+	10	1201	c.762C>T	c.(760-762)cgC>cgT	p.R254R	SEMA6D_ENST00000536845.2_Silent_p.R254R|SEMA6D_ENST00000537942.1_Silent_p.R254R|SEMA6D_ENST00000389425.3_Silent_p.R254R|SEMA6D_ENST00000358066.4_Silent_p.R254R|SEMA6D_ENST00000389433.2_Silent_p.R254R|SEMA6D_ENST00000389432.2_Silent_p.R254R|SEMA6D_ENST00000558014.1_Silent_p.R254R|SEMA6D_ENST00000558816.1_Silent_p.R254R|SEMA6D_ENST00000354744.4_Silent_p.R254R|SEMA6D_ENST00000355997.3_Silent_p.R254R|SEMA6D_ENST00000389428.3_Silent_p.R254R	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	254	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TGTATTCCCGCGTGGCCCGCA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,,,,,	1,4395	2.1+/-5.4	0,1,2197	136	133	134		762,762,762,762,762,762,762	-3.7	1	15		134	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEMA6D	NM_001198999.1,NM_020858.1,NM_024966.2,NM_153616.1,NM_153617.1,NM_153618.1,NM_153619.1	,,,,,,	0,1,6494	TT,TC,CC	NA	0.0,0.0227,0.0077	,,,,,,	254/1012,254/1012,254/477,254/999,254/1018,254/1074,254/598	48056061	1,12989	2198	4297	6495	SO:0001819	synonymous_variant			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872	80031	80031		Semaphorins	16770	protein-coding gene	gene with protein product		609295			NA	12110693, 14977921	Standard	NM_024966	NM_020858	NA	Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.762C>T	15.37:g.48056061C>T		NA	A6NF10|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	37	CCDS32225.1																																																																																			SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416868.1		+	ENST00000316364.5	Silent	SNP	15 : 48056061 - 48056061 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1002	193
DENND3	22898	broad.mit.edu	37	8	142146825	142146825	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142146825A>C	ENST00000519811.1	+	2	390	c.320A>C	c.(319-321)gAg>gCg	p.E107A	DENND3_ENST00000424248.1_Missense_Mutation_p.E27A|DENND3_ENST00000518347.1_Missense_Mutation_p.E107A|DENND3_ENST00000262585.2_Missense_Mutation_p.E27A			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	27	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AGAGCGCCAGAGCCTGAGGAT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	20	18			NA	NA	8		NA											NA				142146825		2200	4297	6497	SO:0001583	missense			AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339	22898	22898		DENN/MADD domain containing, WD repeat domain containing	29134	protein-coding gene	gene with protein product					NA	10048485	Standard	NM_014957	NM_014957	NA	Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000519811.1:c.320A>C	8.37:g.142146825A>C	ENSP00000428714:p.Glu107Ala	NA	B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.687|9.687	1.150839|1.150839	0.21371|0.21371	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000519291;ENST00000518347;ENST00000262585;ENST00000424248;ENST00000519811;ENST00000520986;ENST00000523058|ENST00000518668	T;T;T;T;T;T|.	0.40476|.	1.03;2.96;2.52;1.03;1.03;1.03|.	5.36|5.36	4.19|4.19	0.49359|0.49359	uDENN (1);|.	0.608859|.	0.17752|.	N|.	0.163199|.	T|T	0.23886|0.23886	0.0578|0.0578	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B;P;B|.	0.38280|.	0.002;0.003;0.625;0.258|.	B;B;B;B|.	0.34931|.	0.002;0.006;0.192;0.098|.	T|T	0.19712|0.19712	-1.0297|-1.0297	10|5	0.21014|.	T|.	0.42|.	-0.9371|-0.9371	7.0187|7.0187	0.24902|0.24902	0.7747:0.1484:0.0768:0.0|0.7747:0.1484:0.0768:0.0	.|.	107;27;107;107|.	E9PF32;A2RUS2;E5RHH2;E5RIR7|.	.;DEND3_HUMAN;.;.|.	A|S	40;107;27;27;107;107;107|83	ENSP00000430695:E107A;ENSP00000262585:E27A;ENSP00000410594:E27A;ENSP00000428714:E107A;ENSP00000429780:E107A;ENSP00000430786:E107A|.	ENSP00000262585:E27A|.	E|R	+|+	2|3	0|2	DENND3|DENND3	142216007|142216007	0.764000|0.764000	0.28473|0.28473	0.013000|0.013000	0.15412|0.15412	0.003000|0.003000	0.03518|0.03518	1.801000|1.801000	0.38843|0.38843	0.857000|0.857000	0.35407|0.35407	0.528000|0.528000	0.53228|0.53228	GAG|AGA	DENND3-001	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000380189.3		+	ENST00000519811.1	Missense_Mutation	SNP	8 : 142146825 - 142146825 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	103	23
ADD2	119	broad.mit.edu	37	2	70901918	70901918	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70901918T>C	ENST00000264436.4	-	14	2077	c.1633A>G	c.(1633-1635)Acc>Gcc	p.T545A	ADD2_ENST00000407644.2_Missense_Mutation_p.T545A|ADD2_ENST00000355733.3_Missense_Mutation_p.T545A	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	NA					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TCGTCTTTGGTATCCTCGTCT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													220	200	206			NA	NA	2		NA											NA				70901918		2203	4300	6503	SO:0001583	missense			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340	119	119			244	protein-coding gene	gene with protein product		102681			NA	1840603	Standard	NM_001617	NM_001617	NA	Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1633A>G	2.37:g.70901918T>C	ENSP00000264436:p.Thr545Ala	NA	A8K4P2|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	37	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	T	7.622	0.677089	0.14841	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000522886;ENST00000356565;ENST00000517596	T;T;T;T	0.21543	3.47;3.47;3.32;2.0	5.73	4.57	0.56435	.	0.306452	0.35585	N	0.003104	T	0.14874	0.0359	L	0.34521	1.04	0.80722	D	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.001;0.001;0.002	T	0.07986	-1.0744	10	0.18710	T	0.47	-21.5161	9.9387	0.41567	0.0:0.0805:0.0:0.9195	.	545;545;545;545	P35612-4;Q05DK5;P35612;P35612-3	.;.;ADDB_HUMAN;.	A	545;545;297;545;239;545;239	ENSP00000264436:T545A;ENSP00000384677:T545A;ENSP00000347972:T545A;ENSP00000430243:T239A	ENSP00000264436:T545A	T	-	1	0	ADD2	70755426	0.999000	0.42202	1.000000	0.80357	0.959000	0.62525	0.699000	0.25586	1.000000	0.39049	0.533000	0.62120	ACC	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251918.4		-	ENST00000264436.4	Missense_Mutation	SNP	2 : 70901918 - 70901918 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	650	171
PCDHGB6	56100	broad.mit.edu	37	5	140789477	140789477	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140789477G>A	ENST00000520790.1	+	1	1708	c.1708G>A	c.(1708-1710)Gac>Aac	p.D570N	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1			protocadherin gamma subfamily B, 6	NA										breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGGGTCCTGACGGCTCCGC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	35	32			NA	NA	5		NA											NA				140789477		2139	4257	6396	SO:0001583	missense			AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305	56100	56100		Cadherins / Protocadherins : Clustered	8713	other	protocadherin		606303			NA	10380929	Standard	NM_018926	NM_018926	NA	Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1708G>A	5.37:g.140789477G>A	ENSP00000428603:p.Asp570Asn	NA		37	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	g	10.42	1.345171	0.24426	.	.	ENSG00000253305	ENST00000520790	T	0.48522	0.81	5.36	5.36	0.76844	Cadherin-like (1);	.	.	.	.	T	0.45637	0.1352	N	0.13352	0.335	0.09310	N	1	D;D	0.62365	0.991;0.983	D;D	0.64595	0.917;0.927	T	0.30208	-0.9986	9	0.28530	T	0.3	.	7.8633	0.29522	0.0858:0.1639:0.7503:0.0	.	570;570	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	N	570	ENSP00000428603:D570N	ENSP00000428603:D570N	D	+	1	0	PCDHGB6	140769661	0.057000	0.20700	0.498000	0.27564	0.025000	0.11179	2.332000	0.43903	2.517000	0.84864	0.462000	0.41574	GAC	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374746.1		+	ENST00000520790.1	Missense_Mutation	SNP	5 : 140789477 - 140789477 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	159	40
DOCK6	57572	broad.mit.edu	37	19	11326479	11326479	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11326479C>T	ENST00000294618.7	-	31	4030	c.4019G>A	c.(4018-4020)cGt>cAt	p.R1340H	DOCK6_ENST00000319867.7_Missense_Mutation_p.R679H|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1340					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CCTCTTACCACGACTTCGCCG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	109	109			NA	NA	19		NA											NA				11326479		1997	4168	6165	SO:0001583	missense				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158	57572	57572			19189	protein-coding gene	gene with protein product		614194			NA	12432077	Standard	NM_020812	NM_020812	NA	Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.4019G>A	19.37:g.11326479C>T	ENSP00000294618:p.Arg1340His	NA	A6H8X5|Q7Z7P4|Q9P2F2	37	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012642	0.93346	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.02863	4.13;4.13	5.29	4.23	0.50019	.	0.068952	0.56097	D	0.000035	T	0.11922	0.0290	M	0.72118	2.19	0.53005	D	0.999962	D;P	0.60160	0.987;0.951	P;P	0.61722	0.893;0.677	T	0.00832	-1.1548	10	0.66056	D	0.02	-15.8247	14.0834	0.64939	0.1521:0.8479:0.0:0.0	.	679;1340	C9IZV6;Q96HP0	.;DOCK6_HUMAN	H	1340;679	ENSP00000294618:R1340H;ENSP00000321556:R679H	ENSP00000294618:R1340H	R	-	2	0	DOCK6	11187479	1.000000	0.71417	0.680000	0.29994	0.821000	0.46438	7.524000	0.81866	1.416000	0.47057	0.591000	0.81541	CGT	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453155.1		-	ENST00000294618.7	Missense_Mutation	SNP	19 : 11326479 - 11326479 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	432	64
SOX5	6660	broad.mit.edu	37	12	23893858	23893858	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:23893858G>T	ENST00000546136.1	-	4	647	c.645C>A	c.(643-645)gcC>gcA	p.A215A	SOX5_ENST00000545921.1_Silent_p.A218A|SOX5_ENST00000309359.1_Silent_p.A215A|SOX5_ENST00000537393.1_Silent_p.A193A|SOX5_ENST00000451604.2_Silent_p.A228A|SOX5_ENST00000541847.1_Silent_p.A218A|SOX5_ENST00000381381.2_Silent_p.A215A|SOX5_ENST00000541536.1_Silent_p.A215A			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	228					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CAATCTGAGAGGCAGCTAGTT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	103	107			NA	NA	12		NA											NA				23893858		2203	4300	6503	SO:0001819	synonymous_variant			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532	6660	6660		SRY (sex determining region Y)-boxes	11201	protein-coding gene	gene with protein product		604975			NA	8812465	Standard	NM_006940	NM_006940	NA	Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000546136.1:c.645C>A	12.37:g.23893858G>T		NA	Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	37	CCDS44844.1																																																																																			SOX5-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402005.2		-	ENST00000546136.1	Silent	SNP	12 : 23893858 - 23893858 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	434	83
PKHD1L1	93035	broad.mit.edu	37	8	110478960	110478960	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110478960C>A	ENST00000378402.5	+	50	8671	c.8567C>A	c.(8566-8568)tCt>tAt	p.S2856Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2856					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCTCCAGTATCTCTGCTTGAA	0.398		NA								HNSCC(38;0.096)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	125	129			NA	NA	8		NA											NA				110478960		1908	4125	6033	SO:0001583	missense			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038	93035	93035			20313	protein-coding gene	gene with protein product		607843			NA	12620974	Standard	NM_177531	NM_177531	NA	Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.8567C>A	8.37:g.110478960C>A	ENSP00000367655:p.Ser2856Tyr	NA	Q567P2|Q9UF27	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095845	0.76870	.	.	ENSG00000205038	ENST00000378402	D	0.88124	-2.34	6.16	6.16	0.99307	.	0.065168	0.64402	D	0.000006	D	0.91395	0.7285	M	0.74258	2.255	0.43863	D	0.996461	P	0.46578	0.88	P	0.51701	0.677	D	0.91602	0.5296	10	0.87932	D	0	.	18.3537	0.90348	0.0:1.0:0.0:0.0	.	2856	Q86WI1	PKHL1_HUMAN	Y	2856	ENSP00000367655:S2856Y	ENSP00000367655:S2856Y	S	+	2	0	PKHD1L1	110548136	1.000000	0.71417	0.755000	0.31263	0.434000	0.31775	6.559000	0.73946	2.937000	0.99478	0.650000	0.86243	TCT	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381017.1		+	ENST00000378402.5	Missense_Mutation	SNP	8 : 110478960 - 110478960 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	121	8
GAB4	128954	broad.mit.edu	37	22	17488858	17488858	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17488858C>T	ENST00000400588.1	-	1	254	c.147G>A	c.(145-147)tcG>tcA	p.S49S	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	49	PH.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TCTCGGGGGGCGACTTCCTCA	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	21	19			NA	NA	22		NA											NA				17488858		2097	4237	6334	SO:0001819	synonymous_variant			AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568	128954	128954		Pleckstrin homology (PH) domain containing	18325	protein-coding gene	gene with protein product					NA		Standard	XM_372882	NM_001037814	NA	Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.147G>A	22.37:g.17488858C>T		NA		37	CCDS42976.1																																																																																			GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000315426.1		-	ENST00000400588.1	Silent	SNP	22 : 17488858 - 17488858 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	144	28
CEP120	153241	broad.mit.edu	37	5	122734865	122734865	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122734865A>C	ENST00000306467.5	-	5	881	c.577T>G	c.(577-579)Tca>Gca	p.S193A	CEP120_ENST00000395431.2_Missense_Mutation_p.S193A|CEP120_ENST00000306481.6_Missense_Mutation_p.S167A|CEP120_ENST00000328236.5_Missense_Mutation_p.S193A			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	193						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						ATGGTCACTGACATAATAAAG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	94	94			NA	NA	5		NA											NA				122734865		2032	4192	6224	SO:0001583	missense			AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944	153241	153241			26690	protein-coding gene	gene with protein product		613446	coiled-coil domain containing 100	CCDC100	NA	17920017	Standard	NM_153223	NM_153223	NA	Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.577T>G	5.37:g.122734865A>C	ENSP00000303058:p.Ser193Ala	NA	Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	37	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	A	17.33	3.361882	0.61403	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442;ENST00000395431	T;T;T;T	0.52983	1.96;1.96;1.96;0.64	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.67059	0.2853	M	0.65975	2.015	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.66337	-0.5949	10	0.40728	T	0.16	-15.2477	16.0663	0.80878	1.0:0.0:0.0:0.0	.	193	Q8N960	CE120_HUMAN	A	193;193;167;167;193	ENSP00000303058:S193A;ENSP00000327504:S193A;ENSP00000307419:S167A;ENSP00000421620:S167A	ENSP00000303058:S193A	S	-	1	0	CEP120	122762764	1.000000	0.71417	0.847000	0.33407	0.085000	0.17905	9.310000	0.96267	2.201000	0.70794	0.533000	0.62120	TCA	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250899.2		-	ENST00000306467.5	Missense_Mutation	SNP	5 : 122734865 - 122734865 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	419	63
FAM208B	54906	broad.mit.edu	37	10	5784280	5784280	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5784280G>A	ENST00000328090.5	+	14	3173	c.2548G>A	c.(2548-2550)Gac>Aac	p.D850N	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	850											NA						ATGTTCTGCAGACTCTCTGTT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	142	144			NA	NA	10		NA											NA				5784280		1878	4105	5983	SO:0001583	missense			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021	54906	54906			23484	protein-coding gene	gene with protein product			chromosome 10 open reading frame 18	C10orf18	NA	12477932	Standard	NM_017782	NM_017782	NA	Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.2548G>A	10.37:g.5784280G>A	ENSP00000328426:p.Asp850Asn	NA	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	37	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.438442	0.62955	.	.	ENSG00000108021	ENST00000328090	D	0.97480	-4.4	5.71	4.8	0.61643	.	0.386439	0.25227	N	0.032200	D	0.97760	0.9265	M	0.72118	2.19	0.30546	N	0.765971	D	0.76494	0.999	D	0.66847	0.947	D	0.95458	0.8540	10	0.72032	D	0.01	.	12.0944	0.53747	0.0797:0.0:0.9203:0.0	.	850	Q5VWN6	F208B_HUMAN	N	850	ENSP00000328426:D850N	ENSP00000328426:D850N	D	+	1	0	C10orf18	5824286	0.529000	0.26322	0.992000	0.48379	0.058000	0.15608	3.162000	0.50755	2.694000	0.91930	0.655000	0.94253	GAC	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046571.2		+	ENST00000328090.5	Missense_Mutation	SNP	10 : 5784280 - 5784280 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	736	142
TTC9	23508	broad.mit.edu	37	14	71134289	71134289	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71134289C>A	ENST00000256367.2	+	2	758	c.415C>A	c.(415-417)Ctc>Atc	p.L139I		NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	139							binding			skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		AGCCTGCCTGCTCCAGGCTGA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	49	49			NA	NA	14		NA											NA				71134289		1967	4177	6144	SO:0001583	missense			D86980	CCDS45132.1	14q24.2	2014-08-12			ENSG00000133985		23508	23508		Tetratricopeptide (TTC) repeat domain containing	20267	protein-coding gene	gene with protein product		610488			NA		Standard	XM_027236	NM_015351	NA	Approved	KIAA0227, TTC9A	uc001xmi.2	Q92623	OTTHUMG00000172133	ENST00000256367.2:c.415C>A	14.37:g.71134289C>A	ENSP00000256367:p.Leu139Ile	NA	Q86WT2	37	CCDS45132.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.937230	0.52972	.	.	ENSG00000133985	ENST00000256367	T	0.21932	1.98	5.02	5.02	0.67125	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.56097	D	0.000021	T	0.44726	0.1307	L	0.58101	1.795	0.52501	D	0.99995	D	0.89917	1.0	D	0.83275	0.996	T	0.23297	-1.0192	10	0.48119	T	0.1	-20.3401	18.5279	0.90980	0.0:1.0:0.0:0.0	.	139	Q92623	TTC9A_HUMAN	I	139	ENSP00000256367:L139I	ENSP00000256367:L139I	L	+	1	0	TTC9	70204042	1.000000	0.71417	1.000000	0.80357	0.192000	0.23643	3.420000	0.52735	2.596000	0.87737	0.655000	0.94253	CTC	TTC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417024.1		+	ENST00000256367.2	Missense_Mutation	SNP	14 : 71134289 - 71134289 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	245	51
IGSF10	285313	broad.mit.edu	37	3	151155762	151155762	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151155762C>T	ENST00000282466.3	-	6	6586	c.6587G>A	c.(6586-6588)gGg>gAg	p.G2196E	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2196	Ig-like C2-type 8.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGTCAAAGACCCATTGGCATG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	108	109			NA	NA	3		NA											NA				151155762		2203	4300	6503	SO:0001583	missense			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580	285313	285313		Immunoglobulin superfamily / I-set domain containing	26384	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_178822	NM_178822	NA	Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.6587G>A	3.37:g.151155762C>T	ENSP00000282466:p.Gly2196Glu	NA	Q86YJ9|Q8N772|Q8NA84	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124812	0.56613	.	.	ENSG00000152580	ENST00000282466	T	0.35421	1.31	5.77	4.89	0.63831	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.133232	0.33980	N	0.004362	T	0.65491	0.2696	M	0.85542	2.76	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.969	T	0.73014	-0.4116	10	0.72032	D	0.01	.	16.9292	0.86186	0.0:0.8721:0.1279:0.0	.	2196;223	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	E	2196	ENSP00000282466:G2196E	ENSP00000282466:G2196E	G	-	2	0	IGSF10	152638452	1.000000	0.71417	0.963000	0.40424	0.335000	0.28730	5.731000	0.68554	1.428000	0.47296	0.591000	0.81541	GGG	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357782.1		-	ENST00000282466.3	Missense_Mutation	SNP	3 : 151155762 - 151155762 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	517	89
ARHGAP25	9938	broad.mit.edu	37	2	69046363	69046363	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:69046363C>T	ENST00000467265.1	+	8	1310	c.992C>T	c.(991-993)cCc>cTc	p.P331L	ARHGAP25_ENST00000409030.3_Missense_Mutation_p.P363L|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.P364L|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.P371L|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.P64L|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.P364L|ARHGAP25_ENST00000295381.3_Missense_Mutation_p.P370L	NM_001166277.1	NP_001159749.1	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	370	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AAAAATGACCCCAAGAAAGCT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	114	111			NA	NA	2		NA											NA				69046363		2203	4300	6503	SO:0001583	missense			D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219	9938	9938		Rho GTPase activating proteins, Pleckstrin homology (PH) domain containing	28951	protein-coding gene	gene with protein product		610587			NA	7584044	Standard	NM_014882	NM_001007231	NA	Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000467265.1:c.992C>T	2.37:g.69046363C>T	ENSP00000420583:p.Pro331Leu	NA	A8K2Y1|Q8IXQ2	37	CCDS54363.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.50|13.50	2.254697|2.254697	0.39896|0.39896	.|.	.|.	ENSG00000163219|ENSG00000163219	ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533;ENST00000479844|ENST00000497259	T;T;T;T;T;T;T|T	0.18016|0.15487	2.7;2.7;2.43;2.7;2.7;2.61;2.24|2.42	5.12|5.12	3.29|3.29	0.37713|0.37713	.|.	0.757438|0.757438	0.13147|0.13147	N|N	0.410145|0.410145	T|T	0.07052|0.07052	0.0179|0.0179	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B;B;B;B;B|.	0.28933|.	0.029;0.178;0.178;0.178;0.228;0.016|.	B;B;B;B;B;B|.	0.27796|.	0.01;0.036;0.058;0.058;0.083;0.003|.	T|T	0.16719|0.16719	-1.0393|-1.0393	10|8	0.11485|0.06365	T|T	0.65|0.9	.|.	6.1119|6.1119	0.20106|0.20106	0.3332:0.5798:0.0:0.0869|0.3332:0.5798:0.0:0.0869	.|.	331;371;364;363;364;370|.	E9PFQ7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331|.	.;.;.;.;.;RHG25_HUMAN|.	L|S	370;371;331;363;364;364;364;355;64|230	ENSP00000295381:P370L;ENSP00000386911:P371L;ENSP00000420583:P331L;ENSP00000386863:P363L;ENSP00000386241:P364L;ENSP00000417139:P364L;ENSP00000417467:P64L|ENSP00000417818:P230S	ENSP00000295381:P370L|ENSP00000417818:P230S	P|P	+|+	2|1	0|0	ARHGAP25|ARHGAP25	68899867|68899867	0.980000|0.980000	0.34600|0.34600	1.000000|1.000000	0.80357|0.80357	0.874000|0.874000	0.50279|0.50279	0.766000|0.766000	0.26560|0.26560	0.825000|0.825000	0.34637|0.34637	0.563000|0.563000	0.77884|0.77884	CCC|CCA	ARHGAP25-008	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353949.1		+	ENST00000467265.1	Missense_Mutation	SNP	2 : 69046363 - 69046363 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	736	114
PRRC2C	23215	broad.mit.edu	37	1	171553157	171553157	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171553157C>A	ENST00000367742.3	+	29	7714	c.7472C>A	c.(7471-7473)gCt>gAt	p.A2491D	PRRC2C_ENST00000426496.2_Missense_Mutation_p.A2424D|PRRC2C_ENST00000338920.4_Missense_Mutation_p.A2489D|PRRC2C_ENST00000392078.3_Missense_Mutation_p.A2491D			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2489	Gln-rich.						protein C-terminus binding				NA						TCTGGTACTGCTATTCACAAC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	126	129			NA	NA	1		NA											NA				171553157		2203	4300	6503	SO:0001583	missense			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523	23215	23215			24903	protein-coding gene	gene with protein product			BAT2 domain containing 1, HLA-B associated transcript 2-like 2	BAT2D1, BAT2L2	NA	10470851, 12443540	Standard	NM_015172	NM_015172	NA	Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000367742.3:c.7472C>A	1.37:g.171553157C>A	ENSP00000356716:p.Ala2491Asp	NA	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.9|22.9	4.353405|4.353405	0.82243|0.82243	.|.	.|.	ENSG00000117523|ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080|ENST00000495585	T;T;T;T|.	0.03301|.	3.99;3.98;3.98;3.98|.	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	0.149763|.	0.30830|.	N|.	0.008793|.	T|T	0.63189|0.63189	0.2490|0.2490	L|L	0.46157|0.46157	1.445|1.445	0.53005|0.53005	D|D	0.999964|0.999964	B;D|.	0.53462|.	0.079;0.96|.	B;P|.	0.51229|.	0.035;0.663|.	T|T	0.56541|0.56541	-0.7962|-0.7962	10|5	0.87932|.	D|.	0|.	.|.	20.4581|20.4581	0.99154|0.99154	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2424;2489|.	B7WNZ6;Q9Y520-4|.	.;.|.	D|I	2491;2443;2424;2491;2489;2246|972	ENSP00000375928:A2491D;ENSP00000410219:A2424D;ENSP00000356716:A2491D;ENSP00000343629:A2489D|.	ENSP00000343629:A2489D|.	A|L	+|+	2|1	0|2	PRRC2C|PRRC2C	169819781|169819781	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	7.277000|7.277000	0.78572|0.78572	2.835000|2.835000	0.97688|0.97688	0.650000|0.650000	0.86243|0.86243	GCT|CTA	PRRC2C-001	NOVEL	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000083864.4		+	ENST00000367742.3	Missense_Mutation	SNP	1 : 171553157 - 171553157 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	545	18
GATA4	2626	broad.mit.edu	37	8	11606439	11606439	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11606439G>A	ENST00000335135.4	+	3	1186	c.628G>A	c.(628-630)Gac>Aac	p.D210N	GATA4_ENST00000528712.1_Missense_Mutation_p.D4N|GATA4_ENST00000532059.1_Missense_Mutation_p.D211N	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	210					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		TATGTTTGACGACTTCTCAGA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	138	137	138		628	5.1	1	8		138	0,8600		0,0,4300	no	missense	GATA4	NM_002052.3	23	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	possibly-damaging	210/443	11606439	1,13005	2203	4300	6503	SO:0001583	missense			AK097060	CCDS5983.1	8p23.1-p22	2013-01-25	2001-11-28		ENSG00000136574	ENSG00000136574	2626	2626		GATA zinc finger domain containing	4173	protein-coding gene	gene with protein product		600576	GATA-binding protein 4		NA	7665171	Standard	NM_002052	NM_002052	NA	Approved		uc003wuc.2	P43694	OTTHUMG00000090800	ENST00000335135.4:c.628G>A	8.37:g.11606439G>A	ENSP00000334458:p.Asp210Asn	NA	B7ZKX0|Q3MJ45	37	CCDS5983.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337542	0.81911	2.27E-4	0.0	ENSG00000136574	ENST00000528712;ENST00000526716;ENST00000335135;ENST00000259090;ENST00000532059	D;D;D;D	0.98996	-5.31;-5.15;-4.74;-4.75	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000001	D	0.98937	0.9639	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.69654	0.965;0.703	D	0.99731	1.1012	10	0.62326	D	0.03	0.139	18.0083	0.89216	0.0:0.0:1.0:0.0	.	211;210	B7ZKZ4;P43694	.;GATA4_HUMAN	N	4;4;210;209;211	ENSP00000435043:D4N;ENSP00000435347:D4N;ENSP00000334458:D210N;ENSP00000435712:D211N	ENSP00000259090:D209N	D	+	1	0	GATA4	11643848	1.000000	0.71417	0.971000	0.41717	0.935000	0.57460	9.302000	0.96175	2.793000	0.96121	0.655000	0.94253	GAC	GATA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207587.2		+	ENST00000335135.4	Missense_Mutation	SNP	8 : 11606439 - 11606439 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	750	162
NEUROD6	63974	broad.mit.edu	37	7	31378244	31378244	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31378244G>A	ENST00000297142.3	-	2	961	c.639C>T	c.(637-639)agC>agT	p.S213S		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	213					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						TGAGCTCAGGGCTGTGGTAGG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	97	106			NA	NA	7		NA											NA				31378244		2203	4300	6503	SO:0001819	synonymous_variant			AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600	63974	63974		Basic helix-loop-helix proteins	13804	protein-coding gene	gene with protein product		611513	neurogenic differentiation 6		NA	12357074	Standard	NM_022728	NM_022728	NA	Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.639C>T	7.37:g.31378244G>A		NA	Q9H3H6	37	CCDS5434.1																																																																																			NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000215050.1		-	ENST00000297142.3	Silent	SNP	7 : 31378244 - 31378244 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	548	90
DAAM2	23500	broad.mit.edu	37	6	39869088	39869088	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39869088C>T	ENST00000398904.2	+	24	3004	c.2822C>T	c.(2821-2823)gCc>gTc	p.A941V	DAAM2_ENST00000538976.1_Missense_Mutation_p.A940V|DAAM2_ENST00000274867.4_Missense_Mutation_p.A941V			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	941	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TTCGCCAAGGCCTTGATGCAC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	167	166			NA	NA	6		NA											NA				39869088		2073	4210	6283	SO:0001583	missense			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122	23500	23500			18143	protein-coding gene	gene with protein product		606627			NA	11779461, 12632087	Standard		NM_015345	NA	Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2822C>T	6.37:g.39869088C>T	ENSP00000381876:p.Ala941Val	NA	Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	37	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815744	0.50527	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.16743	2.32;2.32;2.32	5.44	4.56	0.56223	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.130091	0.50627	D	0.000110	T	0.05364	0.0142	N	0.25286	0.73	0.80722	D	1	P;P	0.40731	0.681;0.728	B;B	0.37692	0.166;0.256	T	0.33163	-0.9879	10	0.18710	T	0.47	.	15.9472	0.79803	0.0:0.8646:0.1354:0.0	.	940;941	G5EA45;Q86T65	.;DAAM2_HUMAN	V	941;941;940	ENSP00000274867:A941V;ENSP00000381876:A941V;ENSP00000437808:A940V	ENSP00000274867:A941V	A	+	2	0	DAAM2	39977066	1.000000	0.71417	0.985000	0.45067	0.963000	0.63663	6.017000	0.70805	1.268000	0.44264	0.655000	0.94253	GCC	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280648.1		+	ENST00000398904.2	Missense_Mutation	SNP	6 : 39869088 - 39869088 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1009	77
MIB1	57534	broad.mit.edu	37	18	19437203	19437203	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:19437203C>T	ENST00000261537.6	+	19	3042	c.2778C>T	c.(2776-2778)atC>atT	p.I926I	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	926					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			CTGATGATATCTGTAAGTCGA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													232	180	198			NA	NA	18		NA											NA				19437203		2203	4300	6503	SO:0001630	splice_region_variant			AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752	57534	57534		Zinc fingers, ZZ-type, Ankyrin repeat domain containing	21086	protein-coding gene	gene with protein product		608677	mindbomb homolog 1 (Drosophila)		NA		Standard	NM_020774	NM_020774	NA	Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.2779+1C>T	18.37:g.19437203C>T		NA	B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	37	CCDS11871.1																																																																																			MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254675.1	Silent	+	ENST00000261537.6	Splice_Site	SNP	18 : 19437203 - 19437203 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	241	42
SPTBN5	51332	broad.mit.edu	37	15	42178429	42178429	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42178429G>A	ENST00000320955.6	-	7	1251	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	342					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		p.R342W(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		AGTAGCTGCCGCATGGCGGGC	0.637		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)											25	29	28			NA	NA	15		NA											NA				42178429		2001	4186	6187	SO:0001583	missense			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877	51332	51332			15680	protein-coding gene	gene with protein product	beta V spectrin	605916			NA	10764729	Standard	NM_016642	NM_016642	NA	Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.1024C>T	15.37:g.42178429G>A	ENSP00000317790:p.Arg342Trp	NA		37		.	.	.	.	.	.	.	.	.	.	G	12.15	1.853048	0.32699	.	.	ENSG00000137877	ENST00000320955	T	0.69685	-0.42	4.84	1.88	0.25563	.	0.253231	0.33875	N	0.004463	T	0.71065	0.3296	L	0.55103	1.725	0.28927	N	0.891805	D	0.89917	1.0	D	0.70935	0.971	T	0.62548	-0.6831	10	0.37606	T	0.19	.	5.555	0.17111	0.2355:0.0:0.6179:0.1466	.	342	Q9NRC6	SPTN5_HUMAN	W	342	ENSP00000317790:R342W	ENSP00000317790:R342W	R	-	1	2	SPTBN5	39965721	0.990000	0.36364	0.900000	0.35374	0.002000	0.02628	2.511000	0.45476	0.110000	0.17919	-0.136000	0.14681	CGG	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000420237.1		-	ENST00000320955.6	Missense_Mutation	SNP	15 : 42178429 - 42178429 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	311	55
GDF7	151449	broad.mit.edu	37	2	20871120	20871120	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:20871120G>A	ENST00000272224.3	+	2	1864	c.1288G>A	c.(1288-1290)Gcc>Acc	p.A430T		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	430					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTACATCGACGCCGCCAACAA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	35	36			NA	NA	2		NA											NA				20871120		2203	4300	6503	SO:0001583	missense			AF522369	CCDS1701.1	2p24.1	2008-05-22			ENSG00000143869	ENSG00000143869	151449	151449			4222	protein-coding gene	gene with protein product		604651			NA	10022976, 9808626	Standard	NM_182828	NM_182828	NA	Approved	BMP12	uc002rdz.1	Q7Z4P5	OTTHUMG00000090781	ENST00000272224.3:c.1288G>A	2.37:g.20871120G>A	ENSP00000272224:p.Ala430Thr	NA		37	CCDS1701.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164266	0.78339	.	.	ENSG00000143869	ENST00000272224	D	0.83992	-1.79	4.05	4.05	0.47172	Transforming growth factor-beta, C-terminal (3);	0.102833	0.38272	U	0.001750	D	0.83166	0.5195	L	0.27975	0.815	0.35487	D	0.798625	D	0.71674	0.998	D	0.65010	0.931	D	0.87335	0.2327	10	0.66056	D	0.02	.	11.3575	0.49623	0.0:0.0:0.706:0.294	.	430	Q7Z4P5	GDF7_HUMAN	T	430	ENSP00000272224:A430T	ENSP00000272224:A430T	A	+	1	0	GDF7	20734601	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.357000	0.44125	2.187000	0.69744	0.561000	0.74099	GCC	GDF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207563.2		+	ENST00000272224.3	Missense_Mutation	SNP	2 : 20871120 - 20871120 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	222	32
SDK2	54549	broad.mit.edu	37	17	71364628	71364628	+	Silent	SNP	G	G	T	rs146100082	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71364628G>T	ENST00000392650.3	-	37	5085	c.5085C>A	c.(5083-5085)gcC>gcA	p.A1695A	SDK2_ENST00000388726.3_Silent_p.A1676A|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1695	Fibronectin type-III 11.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGACCATGTAGGCCGTGTAGC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	45	50			NA	NA	17		NA											NA				71364628		2203	4300	6503	SO:0001819	synonymous_variant			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188	54549	54549		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	19308	protein-coding gene	gene with protein product		607217	sidekick homolog 2 (chicken)		NA	12230981, 15213259	Standard	NM_019064	NM_001144952	NA	Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.5085C>A	17.37:g.71364628G>T		NA	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	37	CCDS45769.1																																																																																			SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327598.2		-	ENST00000392650.3	Silent	SNP	17 : 71364628 - 71364628 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	99	11
DHX58	79132	broad.mit.edu	37	17	40257177	40257177	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40257177C>T	ENST00000251642.3	-	10	1482	c.1260G>A	c.(1258-1260)caG>caA	p.Q420Q		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	420	Helicase C-terminal.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCACTTCTTGCTGGTCCCTCT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	41	44			NA	NA	17		NA											NA				40257177		2203	4300	6503	SO:0001819	synonymous_variant			BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771	79132	79132			29517	protein-coding gene	gene with protein product	RNA helicase LGP2	608588			NA	11735219	Standard	NM_024119	NM_024119	NA	Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.1260G>A	17.37:g.40257177C>T		NA	Q9HAM6	37	CCDS11416.1																																																																																			DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257396.1		-	ENST00000251642.3	Silent	SNP	17 : 40257177 - 40257177 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	151	27
ZCWPW1	55063	broad.mit.edu	37	7	100014052	100014052	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100014052A>C	ENST00000490721.1	-	4	581	c.144T>G	c.(142-144)atT>atG	p.I48M	ZCWPW1_ENST00000360951.4_Missense_Mutation_p.I169M|ZCWPW1_ENST00000398027.2_Missense_Mutation_p.I169M|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.I48M			Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	169							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAGACACTGAAATCTCTTGAG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	109	112			NA	NA	7		NA											NA				100014052		1871	4112	5983	SO:0001583	missense			AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487	55063	55063			23486	protein-coding gene	gene with protein product			zinc finger, CW-type with PWWP domain 1		NA	11230166, 14607086, 20826339	Standard	NM_017984	NM_017984	NA	Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000490721.1:c.144T>G	7.37:g.100014052A>C	ENSP00000419187:p.Ile48Met	NA	A8MVF5|Q8NA98|Q9BUD0|Q9NWF7	37		.	.	.	.	.	.	.	.	.	.	A	7.804	0.714256	0.15306	.	.	ENSG00000078487	ENST00000398027;ENST00000490721;ENST00000360951;ENST00000324725;ENST00000379559	T;T;T;T	0.56776	0.45;0.53;0.44;0.53	5.23	1.29	0.21616	.	0.774317	0.11398	N	0.568126	T	0.28830	0.0715	N	0.24115	0.695	0.09310	N	1	P;P;B;P;P	0.37441	0.506;0.595;0.264;0.595;0.525	B;B;B;B;B	0.33454	0.074;0.123;0.044;0.123;0.164	T	0.11012	-1.0605	9	.	.	.	-0.4614	1.3621	0.02194	0.5315:0.189:0.0982:0.1812	.	169;129;170;169;48	B4DUQ2;B4DXS7;C9J435;Q9H0M4;Q9H0M4-4	.;.;.;ZCPW1_HUMAN;.	M	169;48;169;48;170	ENSP00000381109:I169M;ENSP00000419187:I48M;ENSP00000354210:I169M;ENSP00000314880:I48M	.	I	-	3	3	ZCWPW1	99851988	0.355000	0.24921	0.957000	0.39632	0.211000	0.24417	0.340000	0.19892	0.873000	0.35799	0.533000	0.62120	ATT	ZCWPW1-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000356086.1		-	ENST00000490721.1	Missense_Mutation	SNP	7 : 100014052 - 100014052 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	478	97
BAK1	578	broad.mit.edu	37	6	33543127	33543127	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33543127G>A	ENST00000374467.3	-	4	546	c.298C>T	c.(298-300)Ctg>Ttg	p.L100L	BAK1_ENST00000360661.5_Silent_p.L100L|BAK1_ENST00000442998.2_Silent_p.L100L	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	100					activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						GTGGGCTGCAGGTGCTGCAAC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	130	142			NA	NA	6		NA											NA				33543127		2203	4298	6501	SO:0001819	synonymous_variant			U23765	CCDS4781.1	6p21.31	2014-03-07			ENSG00000030110	ENSG00000030110	578	578			949	protein-coding gene	gene with protein product		600516		CDN1	NA	7715730, 7715731	Standard	NM_001188	NM_001188	NA	Approved	BCL2L7, BAK	uc003oes.3	Q16611	OTTHUMG00000014530	ENST00000374467.3:c.298C>T	6.37:g.33543127G>A		NA	Q6I9T6|Q92533	37	CCDS4781.1																																																																																			BAK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040202.1		-	ENST00000374467.3	Silent	SNP	6 : 33543127 - 33543127 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	408	76
TMC6	11322	broad.mit.edu	37	17	76120077	76120077	+	Missense_Mutation	SNP	C	C	T	rs145227095	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76120077C>T	ENST00000590602.1	-	9	1234	c.1075G>A	c.(1075-1077)Gtg>Atg	p.V359M	TMC6_ENST00000589553.1_Missense_Mutation_p.V132M|TMC6_ENST00000392467.3_Missense_Mutation_p.V359M|TMC6_ENST00000306591.7_Missense_Mutation_p.V359M|TMC6_ENST00000322933.4_De_novo_Start_InFrame|TMC6_ENST00000322914.3_Missense_Mutation_p.V359M			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	359						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TACCTGTACACCAGGGTGATG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	72	74			NA	NA	17		NA											NA				76120077		2203	4300	6503	SO:0001583	missense			AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524	11322	11322			18021	protein-coding gene	gene with protein product		605828	epidermodysplasia verruciformis 1	EVER1	NA	12426567	Standard		NM_007267	NA	Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.1075G>A	17.37:g.76120077C>T	ENSP00000465261:p.Val359Met	NA	O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	37	CCDS32748.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313848	0.60414	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000306591	T;T;T	0.65916	-0.18;-0.18;-0.18	4.34	4.34	0.51931	.	0.319446	0.28436	N	0.015355	T	0.73345	0.3575	M	0.62088	1.915	0.80722	D	1	D;P;D;D	0.64830	0.994;0.759;0.959;0.985	D;B;P;P	0.64687	0.928;0.414;0.556;0.838	T	0.75505	-0.3294	10	0.56958	D	0.05	-28.0279	12.4474	0.55659	0.0:0.9134:0.0:0.0866	.	359;132;359;359	Q7Z403-2;Q7Z403-4;B3KTU5;Q7Z403	.;.;.;TMC6_HUMAN	M	359	ENSP00000313408:V359M;ENSP00000376260:V359M;ENSP00000306405:V359M	ENSP00000306405:V359M	V	-	1	0	TMC6	73631672	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	5.587000	0.67510	1.945000	0.56424	0.455000	0.32223	GTG	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437146.1		-	ENST00000590602.1	Missense_Mutation	SNP	17 : 76120077 - 76120077 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	62
ADCY10	55811	broad.mit.edu	37	1	167802330	167802330	+	Missense_Mutation	SNP	C	C	T	rs143185037		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167802330C>T	ENST00000367848.1	-	25	3709	c.3212G>A	c.(3211-3213)cGa>cAa	p.R1071Q	ADCY10_ENST00000367851.4_Missense_Mutation_p.R1163Q|ADCY10_ENST00000545172.1_Missense_Mutation_p.R1010Q			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1163					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AGGAAAGATTCGGTTGAGGAG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													275	281	279			NA	NA	1		NA											NA				167802330		2203	4300	6503	SO:0001583	missense			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	55811	55811	4.6.1.1	Adenylate cyclases	21285	protein-coding gene	gene with protein product	soluble adenylyl cyclase, Hypercalciuria, absorptive, 2	605205			NA		Standard	NM_018417	XM_006711449	NA	Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367848.1:c.3212G>A	1.37:g.167802330C>T	ENSP00000356822:p.Arg1071Gln	NA	O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	37		.	.	.	.	.	.	.	.	.	.	c	16.68	3.191030	0.58017	.	.	ENSG00000143199	ENST00000545172;ENST00000271426;ENST00000367851;ENST00000367848	T;T;T	0.32988	1.43;1.44;1.44	5.48	2.62	0.31277	.	0.571110	0.15709	N	0.248496	T	0.12646	0.0307	M	0.74258	2.255	0.24101	N	0.995879	P;B	0.36249	0.545;0.41	B;B	0.22386	0.039;0.017	T	0.03898	-1.0994	9	0.44086	T	0.13	-1.6966	8.0859	0.30771	0.0:0.7467:0.0:0.2533	.	1071;1163	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	Q	1010;64;1163;1071	ENSP00000441992:R1010Q;ENSP00000356825:R1163Q;ENSP00000356822:R1071Q	ENSP00000271426:R64Q	R	-	2	0	ADCY10	166068954	0.000000	0.05858	0.004000	0.12327	0.858000	0.48976	0.296000	0.19083	0.393000	0.25203	-0.131000	0.14894	CGA	ADCY10-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000083664.1		-	ENST00000367848.1	Missense_Mutation	SNP	1 : 167802330 - 167802330 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1316	437
KCNF1	3754	broad.mit.edu	37	2	11052960	11052960	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11052960G>T	ENST00000295082.1	+	1	898	c.408G>T	c.(406-408)gaG>gaT	p.E136D		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	136						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		AGAAGCGCGAGGAGCTGGAGG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	50	48			NA	NA	2		NA											NA				11052960		2203	4300	6503	SO:0001583	missense			AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975	3754	3754		Potassium channels, Voltage-gated ion channels / Potassium channels	6246	protein-coding gene	gene with protein product		603787		KCNF	NA	9434767, 16382104	Standard	NM_002236	NM_002236	NA	Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.408G>T	2.37:g.11052960G>T	ENSP00000295082:p.Glu136Asp	NA	O43527|Q585L3	37	CCDS1676.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.282346	0.23392	.	.	ENSG00000162975	ENST00000295082	D	0.94457	-3.43	5.19	4.06	0.47325	BTB/POZ fold (2);	1.515580	0.04082	N	0.309783	D	0.90497	0.7023	N	0.20685	0.6	0.44492	D	0.99743	B	0.09022	0.002	B	0.06405	0.002	T	0.70234	-0.4928	10	0.34782	T	0.22	.	12.4587	0.55718	0.1157:0.0:0.8843:0.0	.	136	Q9H3M0	KCNF1_HUMAN	D	136	ENSP00000295082:E136D	ENSP00000295082:E136D	E	+	3	2	KCNF1	10970411	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	0.634000	0.24614	2.564000	0.86499	0.563000	0.77884	GAG	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239265.1		+	ENST00000295082.1	Missense_Mutation	SNP	2 : 11052960 - 11052960 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	507	56
C15orf27	123591	broad.mit.edu	37	15	76484318	76484318	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:76484318C>T	ENST00000388942.3	+	9	1054	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	260						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						GTTTGAGATCCGGCAGCTGCG	0.736		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													8	10	9			NA	NA	15		NA											NA				76484318		2037	4010	6047	SO:0001583	missense			AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758	123591	123591			26763	protein-coding gene	gene with protein product					NA	14702039, 22020278	Standard	NM_152335	NM_152335	NA	Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.778C>T	15.37:g.76484318C>T	ENSP00000373594:p.Arg260Trp	NA	Q8N993|Q96LL5	37	CCDS10289.2	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780264	0.49891	.	.	ENSG00000169758	ENST00000388942	T	0.35048	1.33	4.58	3.58	0.41010	.	0.114885	0.56097	D	0.000038	T	0.53546	0.1803	M	0.66939	2.045	0.49915	D	0.999836	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.917	T	0.56257	-0.8009	10	0.72032	D	0.01	-15.5283	9.394	0.38390	0.3178:0.6821:0.0:0.0	.	224;260	Q2M3C6-2;Q2M3C6	.;CO027_HUMAN	W	260	ENSP00000373594:R260W	ENSP00000373594:R260W	R	+	1	2	C15orf27	74271373	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	2.662000	0.46766	2.097000	0.63578	0.491000	0.48974	CGG	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286637.2		+	ENST00000388942.3	Missense_Mutation	SNP	15 : 76484318 - 76484318 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	195	30
POFUT2	23275	broad.mit.edu	37	21	46703411	46703411	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46703411G>A	ENST00000331343.7	-	3	440	c.414C>T	c.(412-414)taC>taT	p.Y138Y	POFUT2_ENST00000349485.5_Silent_p.Y138Y	NM_015227.4	NP_056042.1	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	138					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		TTTGCAGGACGTAAACCTGGT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													236	210	219			NA	NA	21		NA											NA				46703411		2203	4300	6503	SO:0001819	synonymous_variant			AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	23275	23275	2.4.1.221	Fucosyltransferases	14683	protein-coding gene	gene with protein product	peptide-O-fucosyltransferase, GDP-fucose protein O-fucosyltransferase 2	610249	chromosome 21 open reading frame 80	C21orf80	NA		Standard	NM_015227	NM_133635	NA	Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000331343.7:c.414C>T	21.37:g.46703411G>A		NA	Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	37	CCDS13721.1	.	.	.	.	.	.	.	.	.	.	G	1.333	-0.596142	0.03771	.	.	ENSG00000186866	ENST00000451615	.	.	.	4.52	-1.3	0.09259	.	.	.	.	.	T	0.53722	0.1814	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48305	-0.9047	4	.	.	.	-32.6851	8.3022	0.32021	0.6096:0.0:0.3904:0.0	.	.	.	.	C	16	.	.	R	-	1	0	POFUT2	45527839	0.221000	0.23642	0.967000	0.41034	0.073000	0.16967	-0.450000	0.06803	-0.100000	0.12241	0.650000	0.86243	CGT	POFUT2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000192571.3		-	ENST00000331343.7	Silent	SNP	21 : 46703411 - 46703411 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	840	208
TMCC2	9911	broad.mit.edu	37	1	205238374	205238374	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205238374C>T	ENST00000358024.3	+	3	1433	c.1044C>T	c.(1042-1044)gcC>gcT	p.A348A	TMCC2_ENST00000329800.7_Silent_p.A108A|TMCC2_ENST00000330675.7_Silent_p.A123A|TMCC2_ENST00000545499.1_Silent_p.A270A|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	348						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AGACCATCGCCCAGCTGCACA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	37	40			NA	NA	1		NA											NA				205238374		2203	4300	6503	SO:0001819	synonymous_variant			AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069	9911	9911		Transmembrane and coiled-coil domain containing	24239	protein-coding gene	gene with protein product			transmembrane and coiled-coil domains 2		NA	9455484	Standard	NM_014858	NM_014858	NA	Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.1044C>T	1.37:g.205238374C>T		NA	A2RRH3|Q6ZN09	37	CCDS30984.1																																																																																			TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090383.1		+	ENST00000358024.3	Silent	SNP	1 : 205238374 - 205238374 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	303	78
TLE1	7088	broad.mit.edu	37	9	84205779	84205779	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:84205779G>T	ENST00000376499.3	-	16	2834	c.1770C>A	c.(1768-1770)ttC>ttA	p.F590L		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	590					negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						TGCAGCATGAGAAGCAGACCT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)							NA				0													87	83	85			NA	NA	9		NA											NA				84205779		2203	4300	6503	SO:0001583	missense				CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781	7088	7088		WD repeat domain containing	11837	protein-coding gene	gene with protein product	enhancer of split groucho 1	600189	transducin-like enhancer of split 1, homolog of Drosophila E(sp1)		NA	8365415, 8808280	Standard	NM_005077	NM_005077	NA	Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1770C>A	9.37:g.84205779G>T	ENSP00000365682:p.Phe590Leu	NA	A8K495|Q5T3G4|Q969V9	37	CCDS6661.1	.	.	.	.	.	.	.	.	.	.	g	32	5.149377	0.94645	.	.	ENSG00000196781	ENST00000376499	T	0.58060	0.36	5.96	5.06	0.68205	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.043738	0.85682	D	0.000000	T	0.65688	0.2715	L	0.49571	1.57	0.80722	D	1	P;D;P	0.62365	0.887;0.991;0.624	P;D;P	0.70716	0.634;0.97;0.537	T	0.66830	-0.5824	10	0.87932	D	0	-24.4386	13.694	0.62567	0.1244:0.0:0.8756:0.0	.	575;616;590	B4DEF9;Q59EF7;Q04724	.;.;TLE1_HUMAN	L	590	ENSP00000365682:F590L	ENSP00000365682:F590L	F	-	3	2	TLE1	83395599	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.394000	0.52551	2.832000	0.97577	0.655000	0.94253	TTC	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055407.1		-	ENST00000376499.3	Missense_Mutation	SNP	9 : 84205779 - 84205779 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	562	114
RPTOR	57521	broad.mit.edu	37	17	78897351	78897351	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78897351C>T	ENST00000306801.3	+	23	3048	c.2686C>T	c.(2686-2688)Ccg>Tcg	p.P896S	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.P738S	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	896					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GGCCAAGCAGCCGGTCAGCCG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	41	40			NA	NA	17		NA											NA				78897351		2201	4300	6501	SO:0001583	missense				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564	57521	57521		WD repeat domain containing	30287	protein-coding gene	gene with protein product	regulatory associated protein of mTOR	607130			NA	10718198, 12150926	Standard	NM_020761	NM_001163034	NA	Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.2686C>T	17.37:g.78897351C>T	ENSP00000307272:p.Pro896Ser	NA	B2RN36|Q8N4V9|Q8TB32|Q9P2P3	37	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434890	0.62955	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.44881	0.96;0.91	5.02	4.03	0.46877	.	0.066605	0.64402	D	0.000011	T	0.55784	0.1942	L	0.53249	1.67	0.80722	D	1	D;P	0.67145	0.996;0.664	D;B	0.78314	0.991;0.217	T	0.50566	-0.8813	10	0.15952	T	0.53	.	14.3152	0.66446	0.1543:0.8457:0.0:0.0	.	738;896	F5H7J5;Q8N122	.;RPTOR_HUMAN	S	896;738	ENSP00000307272:P896S;ENSP00000442479:P738S	ENSP00000307272:P896S	P	+	1	0	RPTOR	76511946	1.000000	0.71417	0.992000	0.48379	0.780000	0.44128	4.334000	0.59291	1.033000	0.39918	0.655000	0.94253	CCG	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438125.1		+	ENST00000306801.3	Missense_Mutation	SNP	17 : 78897351 - 78897351 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	332	43
EEF1D	1936	broad.mit.edu	37	8	144671274	144671274	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144671274C>T	ENST00000532400.1	-	2	49				EEF1D_ENST00000442189.2_Silent_p.E326E|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000423316.2_Silent_p.E326E|EEF1D_ENST00000532741.1_Silent_p.E376E|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000524624.1_Intron			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	NA					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGTGGCGGCACTCGGCGCTGT	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	20	20			NA	NA	8		NA											NA				144671274		2196	4292	6488	SO:0001627	intron_variant			AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529	1936	1936			3211	protein-coding gene	gene with protein product		130592			NA	8334168	Standard	NM_032378	NM_001960	NA	Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000532400.1:c.7-2252G>A	8.37:g.144671274C>T		NA	D3DWK3|Q969J1|Q96I38	37																																																																																				EEF1D-016	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000386262.1		-	ENST00000532400.1	Intron	SNP	8 : 144671274 - 144671274 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	110	26
ZNF614	80110	broad.mit.edu	37	19	52520505	52520505	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52520505G>T	ENST00000270649.6	-	5	890	c.346C>A	c.(346-348)Ctc>Atc	p.L116I	ZNF614_ENST00000356322.6_Missense_Mutation_p.L116I	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GTCTTGCTGAGATGTACAATA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	88	90			NA	NA	19		NA											NA				52520505		2203	4300	6503	SO:0001583	missense			BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556	80110	80110		Zinc fingers, C2H2-type, -	24722	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_025040	NM_025040	NA	Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.346C>A	19.37:g.52520505G>T	ENSP00000270649:p.Leu116Ile	NA	Q494T8|Q8TCF4	37	CCDS12847.1	.	.	.	.	.	.	.	.	.	.	G	3.983	-0.005997	0.07773	.	.	ENSG00000142556	ENST00000356322;ENST00000270649	T;T	0.07688	5.93;3.17	2.58	0.269	0.15631	.	.	.	.	.	T	0.04272	0.0118	L	0.27053	0.805	0.20196	N	0.999921	P;P	0.44195	0.828;0.69	B;B	0.36289	0.221;0.109	T	0.38457	-0.9660	9	0.23302	T	0.38	.	3.6231	0.08103	0.1561:0.263:0.5809:0.0	.	116;116	Q8N883;Q9BSN8	ZN614_HUMAN;.	I	116	ENSP00000348674:L116I;ENSP00000270649:L116I	ENSP00000270649:L116I	L	-	1	0	ZNF614	57212317	0.000000	0.05858	0.025000	0.17156	0.017000	0.09413	-0.340000	0.07821	0.145000	0.18977	0.591000	0.81541	CTC	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462407.1		-	ENST00000270649.6	Missense_Mutation	SNP	19 : 52520505 - 52520505 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	58
ZNF407	55628	broad.mit.edu	37	18	72353033	72353033	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72353033T>C	ENST00000299687.5	+	2	4757	c.4757T>C	c.(4756-4758)gTg>gCg	p.V1586A	ZNF407_ENST00000582337.1_Missense_Mutation_p.V1586A|ZNF407_ENST00000577538.1_Missense_Mutation_p.V1586A|ZNF407_ENST00000309902.6_Missense_Mutation_p.V1586A	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1586					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AGAAACCATGTGAAAAGGCAC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													204	199	201			NA	NA	18		NA											NA				72353033		2000	4181	6181	SO:0001583	missense			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421	55628	55628		Zinc fingers, C2H2-type	19904	protein-coding gene	gene with protein product		615894			NA	11214970	Standard	NM_017757	NM_017757	NA	Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.4757T>C	18.37:g.72353033T>C	ENSP00000299687:p.Val1586Ala	NA	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	37	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	T	18.97	3.734815	0.69189	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.60672	0.17;2.42	5.1	5.1	0.69264	Zinc finger, C2H2-like (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000007	T	0.68016	0.2955	L	0.42744	1.35	0.36137	D	0.846519	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.997;0.994	T	0.67019	-0.5776	10	0.22109	T	0.4	.	15.1811	0.72960	0.0:0.0:0.0:1.0	.	1586;1586;1586	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	A	1586	ENSP00000299687:V1586A;ENSP00000310359:V1586A	ENSP00000299687:V1586A	V	+	2	0	ZNF407	70482021	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.655000	0.83696	0.240000	0.21263	0.655000	0.94253	GTG	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444903.1		+	ENST00000299687.5	Missense_Mutation	SNP	18 : 72353033 - 72353033 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	799	173
FILIP1	27145	broad.mit.edu	37	6	76022516	76022516	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76022516G>A	ENST00000393004.2	-	5	3253	c.3032C>T	c.(3031-3033)aCg>aTg	p.T1011M	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.T1011M|FILIP1_ENST00000370020.1_Missense_Mutation_p.T912M			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1011										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TGTAGACACCGTCATTATCTG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	130	131			NA	NA	6		NA											NA				76022516		2203	4300	6503	SO:0001583	missense			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407	27145	27145			21015	protein-coding gene	gene with protein product		607307			NA	10574462	Standard	XM_029179	XM_005248713	NA	Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000393004.2:c.3032C>T	6.37:g.76022516G>A	ENSP00000376728:p.Thr1011Met	NA	B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	37		.	.	.	.	.	.	.	.	.	.	G	28.1	4.887244	0.91814	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.21734	1.99;2.0;2.01	6.03	6.03	0.97812	.	0.045131	0.85682	D	0.000000	T	0.34716	0.0907	L	0.48642	1.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72338	0.926;0.95;0.977	T	0.01159	-1.1433	10	0.51188	T	0.08	-22.8688	20.5568	0.99304	0.0:0.0:1.0:0.0	.	1011;1011;1011	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	M	1011;1011;912	ENSP00000376728:T1011M;ENSP00000237172:T1011M;ENSP00000359037:T912M	ENSP00000237172:T1011M	T	-	2	0	FILIP1	76079236	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	9.231000	0.95317	2.861000	0.98227	0.655000	0.94253	ACG	FILIP1-004	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000471226.1		-	ENST00000393004.2	Missense_Mutation	SNP	6 : 76022516 - 76022516 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	678	77
FOXO3	2309	broad.mit.edu	37	6	108984662	108984662	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108984662C>T	ENST00000343882.6	+	3	930	c.626C>T	c.(625-627)tCc>tTc	p.S209F	FOXO3_ENST00000540898.1_5'UTR|FOXO3_ENST00000406360.1_Missense_Mutation_p.S209F	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	209					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 factor binding			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CTGCAGAACTCCATCCGGCAC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	52	51			NA	NA	6		NA											NA				108984662		2197	4288	6485	SO:0001583	missense			AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689	2309	2309		Forkhead boxes	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A	NA	9479491	Standard		NM_001455	NA	Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.626C>T	6.37:g.108984662C>T	ENSP00000339527:p.Ser209Phe	NA	E1P5E6|O15171|Q5T2I7|Q9BZ04	37	CCDS5068.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615266	0.66672	.	.	ENSG00000118689	ENST00000343882;ENST00000406360	D;D	0.97665	-4.48;-4.48	5.83	5.83	0.93111	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99171	0.9713	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99126	1.0851	10	0.87932	D	0	-14.0329	20.1236	0.97970	0.0:1.0:0.0:0.0	.	209	O43524	FOXO3_HUMAN	F	209	ENSP00000339527:S209F;ENSP00000385824:S209F	ENSP00000339527:S209F	S	+	2	0	FOXO3	109091355	1.000000	0.71417	0.997000	0.53966	0.726000	0.41606	7.487000	0.81328	2.765000	0.95021	0.555000	0.69702	TCC	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041722.2		+	ENST00000343882.6	Missense_Mutation	SNP	6 : 108984662 - 108984662 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	454	76
RNF128	79589	broad.mit.edu	37	X	106016311	106016311	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:106016311T>G	ENST00000255499.2	+	2	903	c.653T>G	c.(652-654)aTt>aGt	p.I218S	RNF128_ENST00000324342.3_Missense_Mutation_p.I192S	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	218						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TTTTTTATTATTACGGCGGCA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													187	148	161			NA	NA	X		NA											NA				106016311		2203	4300	6503	SO:0001583	missense			AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135	79589	79589		RING-type (C3HC4) zinc fingers	21153	protein-coding gene	gene with protein product		300439	ring finger protein 128		NA		Standard	NM_024539	NM_024539	NA	Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.653T>G	X.37:g.106016311T>G	ENSP00000255499:p.Ile218Ser	NA	Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	37	CCDS14521.1	.	.	.	.	.	.	.	.	.	.	T	16.20	3.055257	0.55325	.	.	ENSG00000133135	ENST00000418562;ENST00000324342;ENST00000255499	T;T;T	0.33438	1.41;2.75;2.56	5.83	5.83	0.93111	.	0.057243	0.64402	D	0.000002	T	0.25680	0.0625	N	0.14661	0.345	0.45272	D	0.998276	B;P	0.46395	0.237;0.877	B;P	0.46339	0.157;0.513	T	0.06552	-1.0820	10	0.56958	D	0.05	.	13.8541	0.63515	0.0:0.0:0.0:1.0	.	218;192	Q8TEB7;Q8TEB7-2	RN128_HUMAN;.	S	165;192;218	ENSP00000412610:I165S;ENSP00000316127:I192S;ENSP00000255499:I218S	ENSP00000255499:I218S	I	+	2	0	RNF128	105902967	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.987000	0.63857	1.953000	0.56701	0.417000	0.27973	ATT	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057804.1		+	ENST00000255499.2	Missense_Mutation	SNP	X : 106016311 - 106016311 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	411	107
CSNK1A1L	122011	broad.mit.edu	37	13	37678964	37678964	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37678964T>C	ENST00000379800.3	-	1	839	c.430A>G	c.(430-432)Atg>Gtg	p.M144V		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	144	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		CCAGTACCCATCAGGAAGTTA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													200	183	189			NA	NA	13		NA											NA				37678964		2203	4300	6503	SO:0001583	missense			BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138	122011	122011			20289	protein-coding gene	gene with protein product					NA		Standard	NM_145203	NM_145203	NA	Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.430A>G	13.37:g.37678964T>C	ENSP00000369126:p.Met144Val	NA	Q5T2N2	37	CCDS9363.1	.	.	.	.	.	.	.	.	.	.	T	14.47	2.544521	0.45280	.	.	ENSG00000180138	ENST00000379800	T	0.62232	0.04	1.08	1.08	0.20341	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.084250	0.85682	D	0.000000	T	0.61311	0.2337	M	0.64080	1.96	0.42120	D	0.991423	P	0.51147	0.942	P	0.50109	0.631	T	0.62286	-0.6886	10	0.72032	D	0.01	.	6.2671	0.20932	0.0:0.0:0.0:1.0	.	144	Q8N752	KC1AL_HUMAN	V	144	ENSP00000369126:M144V	ENSP00000369126:M144V	M	-	1	0	CSNK1A1L	36576964	1.000000	0.71417	0.980000	0.43619	0.882000	0.50991	5.518000	0.67068	0.725000	0.32318	0.459000	0.35465	ATG	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044563.1		-	ENST00000379800.3	Missense_Mutation	SNP	13 : 37678964 - 37678964 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	643	108
TMPRSS15	5651	broad.mit.edu	37	21	19666603	19666603	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:19666603C>T	ENST00000284885.3	-	21	2503	c.2470G>A	c.(2470-2472)Gca>Aca	p.A824T		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	824	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ACGCAGTGTGCGGCGGACACC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	59	59			NA	NA	21		NA											NA				19666603		2203	4300	6503	SO:0001583	missense				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646	5651	5651		Serine peptidases / Transmembrane	9490	protein-coding gene	gene with protein product	proenterokinase, enteropeptidase	606635	protease, serine, 7 (enterokinase)	PRSS7	NA	8052624	Standard	NM_002772	NM_002772	NA	Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2470G>A	21.37:g.19666603C>T	ENSP00000284885:p.Ala824Thr	NA	Q2NKL7	37	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	C	33	5.207194	0.95033	.	.	ENSG00000154646	ENST00000284885	D	0.96940	-4.18	5.79	5.79	0.91817	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.98842	0.9609	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.99529	1.0960	9	.	.	.	.	17.5226	0.87791	0.0:1.0:0.0:0.0	.	824	P98073	ENTK_HUMAN	T	824	ENSP00000284885:A824T	.	A	-	1	0	TMPRSS15	18588474	1.000000	0.71417	0.957000	0.39632	0.964000	0.63967	6.497000	0.73674	2.729000	0.93468	0.643000	0.83706	GCA	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000158231.2		-	ENST00000284885.3	Missense_Mutation	SNP	21 : 19666603 - 19666603 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	432	62
SHC2	25759	broad.mit.edu	37	19	440898	440898	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:440898C>T	ENST00000264554.6	-	2	502	c.503G>A	c.(502-504)cGc>cAc	p.R168H		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	168	PID.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCCAGGGAGCGCATAGAGCG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	115	108			NA	NA	19		NA											NA				440898		2137	4243	6380	SO:0001583	missense			AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946	25759	25759		SH2 domain containing	29869	protein-coding gene	gene with protein product	neuronal Shc adaptor homolog	605217			NA	7527937, 9507002	Standard		NM_012435	NA	Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.503G>A	19.37:g.440898C>T	ENSP00000264554:p.Arg168His	NA	O60230|Q9NPL5|Q9UCX4	37	CCDS45891.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166787	0.78339	.	.	ENSG00000129946	ENST00000264554	T	0.22539	1.95	3.2	3.2	0.36748	Phosphotyrosine interaction (PID/PI) (1);Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000001	T	0.50429	0.1615	M	0.88450	2.955	0.48395	D	0.999646	D	0.89917	1.0	D	0.85130	0.997	T	0.61700	-0.7009	10	0.87932	D	0	-34.3311	12.6692	0.56858	0.0:1.0:0.0:0.0	.	168	P98077	SHC2_HUMAN	H	168	ENSP00000264554:R168H	ENSP00000264554:R168H	R	-	2	0	SHC2	391898	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	7.160000	0.77495	1.742000	0.51746	0.591000	0.81541	CGC	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451840.3		-	ENST00000264554.6	Missense_Mutation	SNP	19 : 440898 - 440898 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	686	128
PUS3	83480	broad.mit.edu	37	11	125765172	125765172	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125765172C>A	ENST00000530811.1	-	2	936	c.891G>T	c.(889-891)gaG>gaT	p.E297D	HYLS1_ENST00000526028.1_Intron|PUS3_ENST00000227474.3_Missense_Mutation_p.E297D|HYLS1_ENST00000425380.2_Intron|HYLS1_ENST00000356438.3_Intron			Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	297						nucleus	RNA binding			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		CATCAATAATCTCTGGCTTCT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	97	96			NA	NA	11		NA											NA				125765172		2201	4299	6500	SO:0001583	missense			BC004822	CCDS8466.1, CCDS73411.1	11q24.2	2008-02-05					83480	83480			25461	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_031307	NM_031307	NA	Approved	FKSG32	uc001qcy.2	Q9BZE2		ENST00000530811.1:c.891G>T	11.37:g.125765172C>A	ENSP00000432386:p.Glu297Asp	NA	B2RAM0|Q96D17|Q96J23|Q96NB4	37	CCDS8466.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.811514	0.32053	.	.	ENSG00000110060	ENST00000227474;ENST00000530811	T;T	0.55930	0.49;0.49	5.73	-1.31	0.09230	Pseudouridine synthase I, TruA, C-terminal (1);Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase I, TruA, alpha/beta domain (1);	0.143577	0.64402	N	0.000008	T	0.29976	0.0750	L	0.35341	1.055	0.40461	D	0.980245	B	0.12630	0.006	B	0.15052	0.012	T	0.04115	-1.0976	10	0.31617	T	0.26	-5.9672	0.7425	0.00976	0.2463:0.32:0.1106:0.3231	.	297	Q9BZE2	PUS3_HUMAN	D	297	ENSP00000227474:E297D;ENSP00000432386:E297D	ENSP00000227474:E297D	E	-	3	2	PUS3	125270382	0.020000	0.18652	0.517000	0.27799	0.997000	0.91878	-0.097000	0.11042	-0.252000	0.09528	0.591000	0.81541	GAG	PUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386783.1		-	ENST00000530811.1	Missense_Mutation	SNP	11 : 125765172 - 125765172 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	573	108
MMP24	10893	broad.mit.edu	37	20	33834760	33834760	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33834760G>T	ENST00000246186.6	+	2	449	c.364G>T	c.(364-366)Gtc>Ttc	p.V122F	MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|EDEM2_ENST00000540582.1_Intron	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	122					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CGGGATCCCGGTCACCGGTGT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	115	116			NA	NA	20		NA											NA				33834760		2045	4192	6237	SO:0001583	missense			AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966	10893	10893			7172	protein-coding gene	gene with protein product	membrane-type 5 matrix metalloproteinase	604871	matrix metalloproteinase 24 (membrane-inserted)		NA	10363975	Standard	NM_006690	NM_006690	NA	Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.364G>T	20.37:g.33834760G>T	ENSP00000246186:p.Val122Phe	NA	B7ZBG8|Q9H440	37	CCDS46593.1	.	.	.	.	.	.	.	.	.	.	G	34	5.295962	0.95574	.	.	ENSG00000125966	ENST00000246186;ENST00000540655	T	0.47177	0.85	5.5	5.5	0.81552	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76054	0.3934	M	0.91818	3.245	0.80722	D	1	D	0.63046	0.992	D	0.75020	0.985	T	0.80688	-0.1271	10	0.72032	D	0.01	.	18.5657	0.91115	0.0:0.0:1.0:0.0	.	122	Q9Y5R2	MMP24_HUMAN	F	122;70	ENSP00000246186:V122F	ENSP00000246186:V122F	V	+	1	0	MMP24	33298176	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.756000	0.85195	2.864000	0.98301	0.551000	0.68910	GTC	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078851.4		+	ENST00000246186.6	Missense_Mutation	SNP	20 : 33834760 - 33834760 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	443	73
GDF10	2662	broad.mit.edu	37	10	48429256	48429256	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:48429256G>A	ENST00000224605.2	-	2	895	c.630C>T	c.(628-630)gtC>gtT	p.V210V		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	210					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GGGCCGCCTTGACGATGGGGG	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													9	14	12			NA	NA	10		NA											NA				48429256		2144	4237	6381	SO:0001819	synonymous_variant			L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524	2662	2662		Endogenous ligands	4215	protein-coding gene	gene with protein product		601361			NA	8679252	Standard	NM_004962	NM_004962	NA	Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.630C>T	10.37:g.48429256G>A		NA	Q5VSQ8|Q9UCX6	37	CCDS7220.1																																																																																			GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047884.1		-	ENST00000224605.2	Silent	SNP	10 : 48429256 - 48429256 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	229	51
PCDHB8	56128	broad.mit.edu	37	5	140558931	140558931	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140558931C>T	ENST00000239444.2	+	1	1561	c.1316C>T	c.(1315-1317)aCc>aTc	p.T439I		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	439	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCAATATGACCGTGCTGGTG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													197	246	230			NA	NA	5		NA											NA				140558931		2203	4300	6503	SO:0001583	missense			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322	56128	56128		Cadherins / Protocadherins : Clustered	8693	other	protocadherin		606334			NA	10380929	Standard	NM_019120	NM_019120	NA	Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1316C>T	5.37:g.140558931C>T	ENSP00000239444:p.Thr439Ile	NA		37	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	C	3.226	-0.158381	0.06544	.	.	ENSG00000120322	ENST00000239444	T	0.03358	3.96	4.26	3.39	0.38822	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.06781	0.0173	M	0.64630	1.985	0.09310	N	1	B	0.24618	0.107	B	0.36922	0.236	T	0.36359	-0.9751	9	0.56958	D	0.05	.	4.0224	0.09672	0.1624:0.5888:0.158:0.0907	.	439	Q9UN66	PCDB8_HUMAN	I	439	ENSP00000239444:T439I	ENSP00000239444:T439I	T	+	2	0	PCDHB8	140539115	0.000000	0.05858	0.002000	0.10522	0.026000	0.11368	-1.353000	0.02617	0.778000	0.33520	0.305000	0.20034	ACC	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251816.2		+	ENST00000239444.2	Missense_Mutation	SNP	5 : 140558931 - 140558931 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1741	168
HDAC9	9734	broad.mit.edu	37	7	18630049	18630049	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18630049G>A	ENST00000524023.1	+	3	458	c.253G>A	c.(253-255)Gag>Aag	p.E85K	HDAC9_ENST00000406072.1_Missense_Mutation_p.E147K|HDAC9_ENST00000432645.2_Missense_Mutation_p.E116K|HDAC9_ENST00000405010.3_Missense_Mutation_p.E116K|HDAC9_ENST00000456174.2_Missense_Mutation_p.E88K|HDAC9_ENST00000401921.1_Missense_Mutation_p.E119K|HDAC9_ENST00000406451.4_Missense_Mutation_p.E116K|HDAC9_ENST00000441542.2_Missense_Mutation_p.E119K|HDAC9_ENST00000428307.2_Missense_Mutation_p.E116K|HDAC9_ENST00000417496.2_Missense_Mutation_p.E158K	NM_001204147.1	NP_001191076.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	116					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ACAGGAAGTAGAGAGGCATCG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	74	73			NA	NA	7		NA											NA				18630049		2063	4219	6282	SO:0001583	missense			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052	9734	9734			14065	protein-coding gene	gene with protein product		606543			NA	10523670, 10487760	Standard		NM_178425	NA	Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000524023.1:c.253G>A	7.37:g.18630049G>A	ENSP00000430036:p.Glu85Lys	NA	A7E2F3|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	37	CCDS56468.1	.	.	.	.	.	.	.	.	.	.	G	36	5.814642	0.96982	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000413509;ENST00000413380;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000441986;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T;T;T;T	0.62941	0.54;0.44;0.54;0.62;0.11;0.6;0.49;-0.01;0.11;0.08;0.44;0.6;0.63	5.75	5.75	0.90469	Histone deacetylase, glutamine rich N-terminal domain (1);	0.000000	0.64402	D	0.000007	T	0.79287	0.4420	M	0.68317	2.08	0.80722	D	1	D;D;D;P;D;D;D;D;D;D;D;D;D	0.76494	0.997;0.999;0.996;0.623;0.997;0.997;0.996;0.996;0.999;0.999;0.996;0.998;0.997	D;D;D;P;D;D;D;D;D;D;D;D;D	0.85130	0.994;0.996;0.99;0.739;0.994;0.992;0.99;0.99;0.997;0.995;0.99;0.994;0.994	T	0.78912	-0.2017	10	0.56958	D	0.05	-16.8947	19.9433	0.97172	0.0:0.0:1.0:0.0	.	85;88;116;147;158;119;119;119;116;88;116;116;138	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	K	158;161;119;119;116;116;116;147;119;116;119;85;88;85;116	ENSP00000401669:E158K;ENSP00000412497:E119K;ENSP00000392564:E119K;ENSP00000384382:E116K;ENSP00000384657:E116K;ENSP00000395655:E116K;ENSP00000384017:E147K;ENSP00000383912:E119K;ENSP00000410337:E116K;ENSP00000408617:E119K;ENSP00000404763:E85K;ENSP00000388568:E88K;ENSP00000430036:E85K	ENSP00000262069:E161K	E	+	1	0	HDAC9	18596574	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.066000	0.93949	2.716000	0.92895	0.655000	0.94253	GAG	HDAC9-022	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376089.1		+	ENST00000524023.1	Missense_Mutation	SNP	7 : 18630049 - 18630049 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	69	19
TNIK	23043	broad.mit.edu	37	3	170928948	170928948	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170928948G>T	ENST00000436636.2	-	4	607	c.263C>A	c.(262-264)gCt>gAt	p.A88D	TNIK_ENST00000341852.6_Missense_Mutation_p.A88D|TNIK_ENST00000538048.1_Missense_Mutation_p.A88D|TNIK_ENST00000488470.1_Missense_Mutation_p.A88D|TNIK_ENST00000284483.8_Missense_Mutation_p.A88D|TNIK_ENST00000470834.1_Missense_Mutation_p.A88D|TNIK_ENST00000475336.1_Missense_Mutation_p.A88D|TNIK_ENST00000369326.5_Missense_Mutation_p.A88D|TNIK_ENST00000460047.1_Missense_Mutation_p.A88D|TNIK_ENST00000357327.5_Missense_Mutation_p.A88D	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	88	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTTGATAAAAGCACCATAGTA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	117	118			NA	NA	3		NA											NA				170928948		1831	4093	5924	SO:0001583	missense			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310	23043	23043			30765	protein-coding gene	gene with protein product		610005			NA	9628581, 10521462	Standard	XM_039796	NR_027767	NA	Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.263C>A	3.37:g.170928948G>T	ENSP00000399511:p.Ala88Asp	NA	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	37	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	G	34	5.314813	0.95655	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834;ENST00000468757	T;T;T;T;T;T;T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31	6.16	6.16	0.99307	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82291	0.5005	M	0.66560	2.04	0.80722	D	1	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	D;D;D;D;D;D;D;D	0.87578	0.991;0.997;0.998;0.992;0.997;0.997;0.998;0.998	T	0.81854	-0.0741	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	88;88;88;88;88;88;88;88	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	D	88;88;88;88;88;88;88;88;88;88;62	ENSP00000399511:A88D;ENSP00000358332:A88D;ENSP00000443278:A88D;ENSP00000345352:A88D;ENSP00000284483:A88D;ENSP00000418156:A88D;ENSP00000349880:A88D;ENSP00000418916:A88D;ENSP00000418378:A88D;ENSP00000419990:A88D;ENSP00000417338:A62D	ENSP00000284483:A88D	A	-	2	0	TNIK	172411642	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	GCT	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352973.2		-	ENST00000436636.2	Missense_Mutation	SNP	3 : 170928948 - 170928948 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	47
ATP2B1	490	broad.mit.edu	37	12	89996890	89996890	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:89996890C>A	ENST00000428670.3	-	18	3446	c.2990G>T	c.(2989-2991)aGa>aTa	p.R997I	ATP2B1_ENST00000359142.3_Missense_Mutation_p.R997I|ATP2B1_ENST00000393164.2_Missense_Mutation_p.R740I|ATP2B1_ENST00000261173.2_Missense_Mutation_p.R997I|ATP2B1_ENST00000348959.3_Missense_Mutation_p.R997I			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	997					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						GAATACATTTCTTTCACCATG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	95	97			NA	NA	12		NA											NA				89996890		2203	4300	6503	SO:0001583	missense			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	490	490	3.6.3.8	ATPases / P-type	814	protein-coding gene	gene with protein product	plasma membrane calcium-transporting ATPase 1	108731			NA	1674727	Standard	NM_001682	NM_001682	NA	Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.2990G>T	12.37:g.89996890C>A	ENSP00000392043:p.Arg997Ile	NA	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	37	CCDS9035.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.177853|5.177853	0.94846|0.94846	.|.	.|.	ENSG00000070961|ENSG00000070961	ENST00000550716|ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	.|D;D;D;D;D	.|0.94862	.|-3.54;-3.54;-3.54;-3.54;-3.54	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.96191	.|0.8758	L|L	0.48174|0.48174	1.505|1.505	0.80722|0.80722	D|D	1|1	.|D;B;B	.|0.76494	.|0.999;0.36;0.323	.|D;B;B	.|0.83275	.|0.996;0.158;0.048	.|D	.|0.96487	.|0.9361	.|10	.|0.59425	.|D	.|0.04	-8.967|-8.967	18.7145|18.7145	0.91670|0.91670	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|997;997;997	.|P20020-3;P20020-2;P20020-6	.|.;.;.	X|I	14|997;997;997;997;740	.|ENSP00000261173:R997I;ENSP00000343599:R997I;ENSP00000352054:R997I;ENSP00000392043:R997I;ENSP00000376869:R740I	.|ENSP00000261173:R997I	E|R	-|-	1|2	0|0	ATP2B1|ATP2B1	88521021|88521021	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.776000|7.776000	0.85560|0.85560	2.485000|2.485000	0.83878|0.83878	0.563000|0.563000	0.77884|0.77884	GAA|AGA	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406653.1		-	ENST00000428670.3	Missense_Mutation	SNP	12 : 89996890 - 89996890 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	285	12
GAK	2580	broad.mit.edu	37	4	887739	887739	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:887739G>A	ENST00000314167.4	-	8	910	c.800C>T	c.(799-801)gCg>gTg	p.A267V	GAK_ENST00000511163.1_Missense_Mutation_p.A188V	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	267	Protein kinase.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TCGAAGTTTCGCTCCATCCTC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	66	77			NA	NA	4		NA											NA				887739		2202	4297	6499	SO:0001583	missense			D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950	2580	2580		Heat shock proteins / DNAJ (HSP40)	4113	protein-coding gene	gene with protein product	auxilin-2	602052			NA	9299234	Standard	NM_005255	NM_005255	NA	Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.800C>T	4.37:g.887739G>A	ENSP00000314499:p.Ala267Val	NA	Q9BVY6	37	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	G	36	5.772525	0.96922	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	T;T	0.66280	-0.2;-0.2	4.95	4.95	0.65309	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050221	0.85682	D	0.000000	T	0.69833	0.3155	L	0.28649	0.875	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;1.0;1.0	D;D;D;D	0.97110	1.0;0.992;0.999;1.0	T	0.73711	-0.3897	10	0.72032	D	0.01	-19.8381	15.7059	0.77580	0.0:0.0:1.0:0.0	.	188;188;267;163	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	V	267;188	ENSP00000314499:A267V;ENSP00000421361:A188V	ENSP00000314499:A267V	A	-	2	0	GAK	877739	1.000000	0.71417	0.762000	0.31397	0.971000	0.66376	6.812000	0.75226	2.291000	0.77112	0.563000	0.77884	GCG	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239188.1		-	ENST00000314167.4	Missense_Mutation	SNP	4 : 887739 - 887739 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	196	56
DST	667	broad.mit.edu	37	6	56492082	56492082	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56492082G>A	ENST00000361203.3	-	30	4016	c.4009C>T	c.(4009-4011)Ctg>Ttg	p.L1337L	DST_ENST00000370765.6_Silent_p.L1011L|DST_ENST00000446842.2_Silent_p.L1011L|DST_ENST00000244364.6_Silent_p.L1011L|DST_ENST00000370769.4_Silent_p.L1337L|DST_ENST00000370754.5_Silent_p.L1515L|DST_ENST00000518935.1_Silent_p.L1011L|DST_ENST00000421834.2_Silent_p.L1337L|DST_ENST00000312431.6_Silent_p.L1337L|DST_ENST00000370788.2_Silent_p.L1337L			Q03001	DYST_HUMAN	dystonin	1337					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCGGACACCAGCATCTATAAA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	139	143			NA	NA	6		NA											NA				56492082		2203	4299	6502	SO:0001819	synonymous_variant			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914	667	667		EF-hand domain containing	1090	protein-coding gene	gene with protein product		113810	bullous pemphigoid antigen 1, 230/240kDa	BPAG1	NA	2461961, 2276744	Standard	NM_001723	NM_001144770	NA	Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.4009C>T	6.37:g.56492082G>A		NA	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	37																																																																																				DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000041021.3		-	ENST00000361203.3	Silent	SNP	6 : 56492082 - 56492082 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	573	98
NOD1	10392	broad.mit.edu	37	7	30490965	30490965	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30490965C>T	ENST00000222823.4	-	6	2593	c.2068G>A	c.(2068-2070)Gcc>Acc	p.A690T		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	690					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|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	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CTGCAGTCGGCCGAGCAGGCG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	101	98			NA	NA	7		NA											NA				30490965		2203	4300	6503	SO:0001583	missense			AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100	10392	10392		Nucleotide-binding domain and leucine rich repeat containing	16390	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1, NLR family, CARD domain containing 1	605980	caspase recruitment domain family, member 4	CARD4	NA	10224040, 10329646	Standard		NM_006092	NA	Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.2068G>A	7.37:g.30490965C>T	ENSP00000222823:p.Ala690Thr	NA	Q549U4|Q8IWF5	37	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956733	0.73902	.	.	ENSG00000106100	ENST00000222823	T	0.53857	0.6	5.71	5.71	0.89125	.	0.157867	0.56097	D	0.000037	T	0.62998	0.2474	M	0.65975	2.015	0.80722	D	1	D	0.62365	0.991	P	0.53490	0.727	T	0.65195	-0.6227	10	0.56958	D	0.05	.	13.7785	0.63069	0.1532:0.8468:0.0:0.0	.	690	Q9Y239	NOD1_HUMAN	T	690	ENSP00000222823:A690T	ENSP00000222823:A690T	A	-	1	0	NOD1	30457490	0.990000	0.36364	0.865000	0.33974	0.953000	0.61014	2.834000	0.48167	2.709000	0.92574	0.655000	0.94253	GCC	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250443.2		-	ENST00000222823.4	Missense_Mutation	SNP	7 : 30490965 - 30490965 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	602	120
EPHX3	79852	broad.mit.edu	37	19	15342655	15342655	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15342655C>T	ENST00000221730.3	-	2	481	c.261G>A	c.(259-261)ctG>ctA	p.L87L	EPHX3_ENST00000602233.1_Silent_p.L87L|EPHX3_ENST00000435261.1_Silent_p.L87L	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	87						extracellular region	hydrolase activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						AGACATAGTGCAGACGCAGGC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	53	52			NA	NA	19		NA											NA				15342655		2203	4300	6503	SO:0001819	synonymous_variant			AK026061	CCDS12327.1	19p13.13	2011-10-05	2009-04-06	2009-04-06	ENSG00000105131	ENSG00000105131	79852	79852		Abhydrolase domain containing	23760	protein-coding gene	gene with protein product			abhydrolase domain containing 9	ABHD9	NA		Standard	NM_024794	NM_024794	NA	Approved	FLJ22408	uc002nap.3	Q9H6B9		ENST00000221730.3:c.261G>A	19.37:g.15342655C>T		NA	A3KMR3	37	CCDS12327.1																																																																																			EPHX3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465797.1		-	ENST00000221730.3	Silent	SNP	19 : 15342655 - 15342655 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	351	14
ACRV1	56	broad.mit.edu	37	11	125546291	125546291	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125546291C>A	ENST00000533904.1	-	3	978	c.636G>T	c.(634-636)caG>caT	p.Q212H	ACRV1_ENST00000348856.3_Missense_Mutation_p.Q112H|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000425431.1_Missense_Mutation_p.Q68H|ACRV1_ENST00000530048.1_Missense_Mutation_p.Q157H|ACRV1_ENST00000315608.3_Missense_Mutation_p.Q193H|ACRV1_ENST00000453509.1_Missense_Mutation_p.Q123H|ACRV1_ENST00000445562.1_Missense_Mutation_p.Q117H|ACRV1_ENST00000527795.1_Missense_Mutation_p.Q142H|ACRV1_ENST00000345274.1_Intron			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	212					multicellular organismal development	acrosomal vesicle				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		GCTGGGAATTCTGAGTGATGC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	143	144			NA	NA	11		NA											NA				125546291		2201	4299	6500	SO:0001583	missense			AK223335	CCDS8460.1, CCDS8461.1, CCDS44759.1, CCDS44761.1	11q24.2	2012-05-16			ENSG00000134940	ENSG00000134940	56	56			127	protein-coding gene	gene with protein product	sperm protein 10	102525			NA	1693291, 8288254	Standard	NM_001612	NM_001612	NA	Approved	SPACA2, SP-10, D11S4365	uc001qcs.3	P26436	OTTHUMG00000165854	ENST00000533904.1:c.636G>T	11.37:g.125546291C>A	ENSP00000432816:p.Gln212His	NA	Q53FF4	37	CCDS8460.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598244	0.66332	.	.	ENSG00000134940	ENST00000533904;ENST00000433875;ENST00000257382;ENST00000426183;ENST00000453509;ENST00000445562;ENST00000348856;ENST00000425431;ENST00000315608;ENST00000530048;ENST00000527795	T;T;T;T;T;T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92	4.69	2.76	0.32466	.	0.178796	0.27415	N	0.019476	T	0.42787	0.1218	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D;D;D	0.71674	0.984;0.967;0.996;0.985;0.974;0.998;0.996	P;P;D;P;P;D;D	0.66847	0.851;0.748;0.921;0.864;0.641;0.947;0.94	T	0.26608	-1.0098	10	0.59425	D	0.04	-0.0754	5.1993	0.15254	0.2036:0.6892:0.0:0.1072	.	212;193;117;157;68;142;123	P26436;P26436-2;P26436-6;P26436-3;P26436-10;P26436-4;P26436-5	ASPX_HUMAN;.;.;.;.;.;.	H	212;193;157;142;123;117;112;68;193;157;142	ENSP00000432816:Q212H;ENSP00000407846:Q193H;ENSP00000257382:Q157H;ENSP00000411583:Q142H;ENSP00000397448:Q123H;ENSP00000412653:Q117H;ENSP00000257385:Q112H;ENSP00000395453:Q68H;ENSP00000317684:Q193H;ENSP00000433720:Q157H;ENSP00000436819:Q142H	ENSP00000257382:Q157H	Q	-	3	2	ACRV1	125051501	0.948000	0.32251	1.000000	0.80357	0.996000	0.88848	0.560000	0.23500	0.660000	0.30964	0.655000	0.94253	CAG	ACRV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386722.1		-	ENST00000533904.1	Missense_Mutation	SNP	11 : 125546291 - 125546291 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	579	116
LCE1D	353134	broad.mit.edu	37	1	152770357	152770357	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152770357T>C	ENST00000326233.6	+	2	130	c.87T>C	c.(85-87)tgT>tgC	p.C29C		NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	29	Cys-rich.				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCTAAATGTCCCCCTAAGT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	45	45			NA	NA	1		NA											NA				152770357		2099	3880	5979	SO:0001819	synonymous_variant				CCDS1025.1	1q21.3	2008-02-05			ENSG00000172155	ENSG00000172155	353134	353134		Late cornified envelopes	29465	protein-coding gene	gene with protein product		612606			NA	11698679	Standard	NM_178352	NM_178352	NA	Approved	LEP4	uc009wnp.3	Q5T752	OTTHUMG00000012444	ENST00000326233.6:c.87T>C	1.37:g.152770357T>C		NA		37	CCDS1025.1																																																																																			LCE1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034657.2		+	ENST00000326233.6	Silent	SNP	1 : 152770357 - 152770357 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	104
NOXA1	10811	broad.mit.edu	37	9	140328737	140328737	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140328737C>T	ENST00000341349.2	+	14	1557	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	NOXA1_ENST00000392815.2_Silent_p.F403F	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	452			Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).		regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		CCAAGTGCTTCGTGGTCCCCG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	72	70			NA	NA	9		NA											NA				140328737		2200	4294	6494	SO:0001819	synonymous_variant			AF039697	CCDS7042.1, CCDS59157.1	9q34.3	2013-09-20	2002-12-09	2002-12-13	ENSG00000188747	ENSG00000188747	10811	10811			10668	protein-coding gene	gene with protein product		611255	serologically defined colon cancer antigen 31	SDCCAG31	NA	9610721	Standard		NM_001256067	NA	Approved	NY-CO-31, FLJ25475	uc004cmu.3	Q86UR1	OTTHUMG00000131781	ENST00000341349.2:c.1377C>T	9.37:g.140328737C>T		NA	O60533|Q29VU9|Q29VV0|Q2TAM1|Q8IUS3	37	CCDS7042.1																																																																																			NOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254713.1		+	ENST00000341349.2	Silent	SNP	9 : 140328737 - 140328737 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	975	173
FSCB	84075	broad.mit.edu	37	14	44974963	44974963	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:44974963C>T	ENST00000340446.4	-	1	1519	c.1228G>A	c.(1228-1230)Gct>Act	p.A410T		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	410	Pro-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TCTACTTTAGCTGGGGCCTCT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	42	41			NA	NA	14		NA											NA				44974963		2197	4296	6493	SO:0001583	missense			AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139	84075	84075			20494	protein-coding gene	gene with protein product		611779	chromosome 14 open reading frame 155	C14orf155	NA	17855365	Standard	NM_032135	NM_032135	NA	Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1228G>A	14.37:g.44974963C>T	ENSP00000344579:p.Ala410Thr	NA	Q5H9U7|Q86YI2|Q9H0J3	37	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.709338	0.30322	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.13420	2.59	4.49	-2.33	0.06724	.	.	.	.	.	T	0.08537	0.0212	L	0.43152	1.355	0.09310	N	1	B	0.20052	0.041	B	0.22880	0.042	T	0.43877	-0.9364	9	0.14656	T	0.56	-0.4729	2.0042	0.03474	0.1257:0.4363:0.1229:0.3152	.	410	Q5H9T9	FSCB_HUMAN	T	410	ENSP00000344579:A410T	ENSP00000344579:A410T	A	-	1	0	FSCB	44044713	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.358000	0.02604	-0.620000	0.05641	0.655000	0.94253	GCT	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276788.1		-	ENST00000340446.4	Missense_Mutation	SNP	14 : 44974963 - 44974963 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	333	49
WDR7	23335	broad.mit.edu	37	18	54547231	54547231	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:54547231C>T	ENST00000254442.3	+	21	3572	c.3361C>T	c.(3361-3363)Cgg>Tgg	p.R1121W	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.R1088W	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1121										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CGAGGAAAGACGGAAGCAAGC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	84	87			NA	NA	18		NA											NA				54547231		2203	4300	6503	SO:0001583	missense			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157	23335	23335		WD repeat domain containing	13490	protein-coding gene	gene with protein product		613473			NA	10828621	Standard		XM_005266674	NA	Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.3361C>T	18.37:g.54547231C>T	ENSP00000254442:p.Arg1121Trp	NA	A7E2C8|Q86UX5|Q86VP2|Q96PS7	37	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742449	0.69418	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.73575	-0.76;2.16	5.37	3.47	0.39725	.	0.000000	0.85682	D	0.000000	D	0.82710	0.5096	L	0.60455	1.87	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.973	D	0.83560	0.0106	10	0.87932	D	0	.	13.5355	0.61644	0.5367:0.4633:0.0:0.0	.	1088;1121	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	W	1121;1088;446;1088	ENSP00000254442:R1121W;ENSP00000350187:R1088W	ENSP00000254442:R1121W	R	+	1	2	WDR7	52698229	0.991000	0.36638	1.000000	0.80357	0.994000	0.84299	1.987000	0.40687	0.655000	0.30866	0.655000	0.94253	CGG	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256062.1		+	ENST00000254442.3	Missense_Mutation	SNP	18 : 54547231 - 54547231 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	387	60
RP11-697E2.6	0	broad.mit.edu	37	15	90800938	90800938	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90800938G>A	ENST00000561573.1	+	6	895	c.631G>A	c.(631-633)Gct>Act	p.A211T	TTLL13_ENST00000339615.5_Missense_Mutation_p.A307T|TTLL13_ENST00000438251.1_Missense_Mutation_p.A307T						NA											NA						CCGGGATGGCGCTGTGGGCAG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													196	190	192			NA	NA	15		NA											NA				90800938		2199	4298	6497	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000561573.1:c.631G>A	15.37:g.90800938G>A	ENSP00000456615:p.Ala211Thr	NA		37		.	.	.	.	.	.	.	.	.	.	G	2.494	-0.316714	0.05386	.	.	ENSG00000213471	ENST00000438251;ENST00000339615	T;T	0.05580	3.42;3.42	5.58	2.26	0.28386	.	0.233306	0.37577	N	0.002028	T	0.02848	0.0085	N	0.13198	0.31	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43475	-0.9389	10	0.17369	T	0.5	.	2.5346	0.04711	0.2564:0.0:0.3363:0.4073	.	307	A6NNM8-2	.	T	307	ENSP00000413362:A307T;ENSP00000345294:A307T	ENSP00000345294:A307T	A	+	1	0	TTLL13	88601942	0.010000	0.17322	0.071000	0.20095	0.060000	0.15804	1.640000	0.37186	0.694000	0.31654	-0.254000	0.11334	GCT	RP11-697E2.6-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000435855.1		+	ENST00000561573.1	Missense_Mutation	SNP	15 : 90800938 - 90800938 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	73
DNMT3A	1788	broad.mit.edu	37	2	25469575	25469575	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25469575G>A	ENST00000264709.3	-	10	1530	c.1193C>T	c.(1192-1194)gCc>gTc	p.A398V	DNMT3A_ENST00000380746.4_Missense_Mutation_p.A209V|DNMT3A_ENST00000402667.1_Missense_Mutation_p.A175V|DNMT3A_ENST00000321117.5_Missense_Mutation_p.A398V	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	398	Interaction with DNMT1 and DNMT3B.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTCCACGGCCTTGGCAGT	0.642		NA	Mis, F, N, S		AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0													81	79	80			NA	NA	2		NA											NA				25469575		2203	4299	6502	SO:0001583	missense				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772	1788	1788			2978	protein-coding gene	gene with protein product		602769			NA	9662389, 10433969	Standard	NM_022552	NM_175630	NA	Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1193C>T	2.37:g.25469575G>A	ENSP00000264709:p.Ala398Val	NA	Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	37	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696275	0.48202	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17	4.87	4.87	0.63330	.	0.138248	0.49305	D	0.000144	D	0.90587	0.7049	N	0.08118	0	0.80722	D	1	B;B	0.21225	0.002;0.053	B;B	0.08055	0.0;0.003	D	0.87477	0.2418	10	0.54805	T	0.06	-5.7502	15.5438	0.76077	0.0:0.0:1.0:0.0	.	398;209	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	V	209;398;398;175	ENSP00000370122:A209V;ENSP00000324375:A398V;ENSP00000264709:A398V;ENSP00000384237:A175V	ENSP00000264709:A398V	A	-	2	0	DNMT3A	25323079	1.000000	0.71417	0.957000	0.39632	0.978000	0.69477	4.409000	0.59768	2.535000	0.85469	0.655000	0.94253	GCC	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000211587.1		-	ENST00000264709.3	Missense_Mutation	SNP	2 : 25469575 - 25469575 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	915	68
PKDREJ	10343	broad.mit.edu	37	22	46655796	46655796	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46655796G>A	ENST00000253255.5	-	1	3423	c.3424C>T	c.(3424-3426)Cgg>Tgg	p.R1142W		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1142					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CCCAGCTGCCGCCTAGCCCTT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													185	160	169			NA	NA	22		NA											NA				46655796		2203	4300	6503	SO:0001583	missense			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943	10343	10343			9015	protein-coding gene	gene with protein product		604670	polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like, polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like, polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)		NA	9949214, 10591208	Standard	NM_006071	NM_006071	NA	Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.3424C>T	22.37:g.46655796G>A	ENSP00000253255:p.Arg1142Trp	NA	B1AJY3|O95850	37	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.865749	0.32977	.	.	ENSG00000130943	ENST00000253255	T	0.37915	1.17	5.23	4.15	0.48705	GPS domain (1);	1.823990	0.02647	N	0.105979	T	0.57227	0.2039	M	0.64997	1.995	0.09310	N	0.999999	D	0.89917	1.0	D	0.77004	0.989	T	0.40040	-0.9584	10	0.62326	D	0.03	-22.7006	4.9462	0.13991	0.0848:0.1362:0.6207:0.1583	.	1142	Q9NTG1	PKDRE_HUMAN	W	1142	ENSP00000253255:R1142W	ENSP00000253255:R1142W	R	-	1	2	PKDREJ	45034460	0.009000	0.17119	0.820000	0.32676	0.004000	0.04260	1.203000	0.32284	2.623000	0.88846	0.561000	0.74099	CGG	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318466.1		-	ENST00000253255.5	Missense_Mutation	SNP	22 : 46655796 - 46655796 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	796	142
CBX1	10951	broad.mit.edu	37	17	46153428	46153428	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46153428G>A	ENST00000393408.3	-	3	733	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C	CBX1_ENST00000495350.1_Missense_Mutation_p.R85C|CBX1_ENST00000225603.4_Missense_Mutation_p.R85C	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	85						nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						TCAGCTTTGCGCTTGCCTCCC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(136;694 2497 38792 39034)							NA				0													88	73	78			NA	NA	17		NA											NA				46153428		2203	4300	6503	SO:0001583	missense			U35451	CCDS11525.1	17q21.32	2010-07-06	2010-06-24		ENSG00000108468	ENSG00000108468	10951	10951			1551	protein-coding gene	gene with protein product	HP1 beta homolog (Drosophila )	604511	chromobox homolog 1 (Drosophila HP1 beta)		NA	9169582	Standard	NM_006807	NM_001127228	NA	Approved	HP1Hs-beta, M31, MOD1, CBX, HP1-BETA	uc002ind.4	P83916	OTTHUMG00000150417	ENST00000393408.3:c.253C>T	17.37:g.46153428G>A	ENSP00000377060:p.Arg85Cys	NA	P23197	37	CCDS11525.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383460	0.61845	.	.	ENSG00000108468	ENST00000225603;ENST00000393408;ENST00000402583;ENST00000444685	.	.	.	5.85	5.85	0.93711	.	0.154565	0.39615	U	0.001312	T	0.59487	0.2197	L	0.47716	1.5	0.80722	D	1	B	0.18610	0.029	B	0.06405	0.002	T	0.55623	-0.8112	9	0.66056	D	0.02	-6.0528	18.9246	0.92540	0.0:0.0:1.0:0.0	.	85	P83916	CBX1_HUMAN	C	85	.	ENSP00000225603:R85C	R	-	1	0	CBX1	43508427	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.032000	0.57274	2.767000	0.95098	0.655000	0.94253	CGC	CBX1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318016.1		-	ENST00000393408.3	Missense_Mutation	SNP	17 : 46153428 - 46153428 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	220	49
CCR4	1233	broad.mit.edu	37	3	32995580	32995580	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32995580C>A	ENST00000330953.5	+	2	834	c.666C>A	c.(664-666)taC>taA	p.Y222*		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	222					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TGTTTTGCTACTCCATGATCA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	118	124			NA	NA	3		NA											NA				32995580		2203	4300	6503	SO:0001587	stop_gained			X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813	1233	1233		GPCR / Class A : Chemokine receptors : C-C motif, CD molecules	1605	protein-coding gene	gene with protein product		604836			NA	7642634, 8884276	Standard		NM_005508	NA	Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.666C>A	3.37:g.32995580C>A	ENSP00000332659:p.Tyr222*	NA	Q9ULY6|Q9ULY7	37	CCDS2656.1	.	.	.	.	.	.	.	.	.	.	C	35	5.576924	0.96565	.	.	ENSG00000183813	ENST00000330953	.	.	.	5.95	4.13	0.48395	.	0.000000	0.53938	D	0.000053	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4166	0.38525	0.0:0.7773:0.0:0.2227	.	.	.	.	X	222	.	ENSP00000332659:Y222X	Y	+	3	2	CCR4	32970584	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	1.039000	0.30266	1.498000	0.48600	0.655000	0.94253	TAC	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253252.2		+	ENST00000330953.5	Nonsense_Mutation	SNP	3 : 32995580 - 32995580 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	413	14
TRIM36	55521	broad.mit.edu	37	5	114499317	114499317	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114499317C>A	ENST00000513154.1	-	2	486	c.160G>T	c.(160-162)Gat>Tat	p.D54Y	TRIM36_ENST00000282369.3_Missense_Mutation_p.D66Y|TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000514154.1_Intron			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	66						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TTGAATGAATCATCGAGAGTC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	148	152			NA	NA	5		NA											NA				114499317		2202	4300	6502	SO:0001583	missense			AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503	55521	55521		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers, Fibronectin type III domain containing	16280	protein-coding gene	gene with protein product	zinc-binding protein Rbcc728, tripartite motif protein 36, RING finger protein 98	609317	tripartite motif-containing 36		NA	11331580	Standard	NM_018700	XM_005272031	NA	Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000513154.1:c.160G>T	5.37:g.114499317C>A	ENSP00000423934:p.Asp54Tyr	NA	A1L3Z1	37		.	.	.	.	.	.	.	.	.	.	C	23.4	4.415762	0.83449	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000508894	T;T;T	0.55413	0.52;0.64;0.93	5.31	5.31	0.75309	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.237750	0.42964	D	0.000625	T	0.74741	0.3756	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.979	T	0.77907	-0.2412	10	0.72032	D	0.01	.	18.9679	0.92704	0.0:1.0:0.0:0.0	.	54;66	E9PFI8;Q9NQ86	.;TRI36_HUMAN	Y	66;54;54	ENSP00000282369:D66Y;ENSP00000423934:D54Y;ENSP00000424743:D54Y	ENSP00000282369:D66Y	D	-	1	0	TRIM36	114527216	1.000000	0.71417	0.985000	0.45067	0.925000	0.55904	7.348000	0.79366	2.468000	0.83385	0.655000	0.94253	GAT	TRIM36-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000371017.1		-	ENST00000513154.1	Missense_Mutation	SNP	5 : 114499317 - 114499317 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	489	90
EPC1	80314	broad.mit.edu	37	10	32560500	32560500	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32560500G>T	ENST00000319778.6	-	13	2653	c.2351C>A	c.(2350-2352)tCt>tAt	p.S784Y	EPC1_ENST00000263062.8_Missense_Mutation_p.S807Y|EPC1_ENST00000375110.2_Missense_Mutation_p.S734Y	NM_001272004.1|NM_001272019.2	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	807					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TGAATCTACAGAGGATGAAGA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	113	114			NA	NA	10		NA											NA				32560500		2203	4300	6503	SO:0001583	missense			AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616	80314	80314			19876	protein-coding gene	gene with protein product		610999			NA	10976108	Standard		NM_025209	NA	Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000319778.6:c.2351C>A	10.37:g.32560500G>T	ENSP00000318559:p.Ser784Tyr	NA	B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	37		.	.	.	.	.	.	.	.	.	.	g	17.00	3.277662	0.59758	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	.	.	.	4.79	4.79	0.61399	.	0.370006	0.31290	N	0.007906	T	0.61714	0.2369	L	0.40543	1.245	0.33429	D	0.580917	D;D;P	0.61080	0.987;0.989;0.956	P;P;P	0.58391	0.838;0.655;0.828	T	0.73445	-0.3980	9	0.87932	D	0	-2.4986	17.8998	0.88900	0.0:0.0:1.0:0.0	.	734;784;807	Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;EPC1_HUMAN	Y	734;784;807	.	ENSP00000263062:S807Y	S	-	2	0	EPC1	32600506	1.000000	0.71417	0.995000	0.50966	0.954000	0.61252	6.040000	0.70980	2.214000	0.71695	0.299000	0.19835	TCT	EPC1-002	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000047482.1		-	ENST00000319778.6	Missense_Mutation	SNP	10 : 32560500 - 32560500 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	884	162
SAMD9L	219285	broad.mit.edu	37	7	92760879	92760879	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92760879G>A	ENST00000318238.4	-	5	5622	c.4406C>T	c.(4405-4407)tCc>tTc	p.S1469F	SAMD9L_ENST00000411955.1_Missense_Mutation_p.S1469F|SAMD9L_ENST00000437805.1_Missense_Mutation_p.S1469F	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1469										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGCCTGCTTGGACCTGCACAT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	140	144			NA	NA	7		NA											NA				92760879		2203	4300	6503	SO:0001583	missense			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409	219285	219285		Sterile alpha motif (SAM) domain containing	1349	protein-coding gene	gene with protein product		611170	chromosome 7 open reading frame 6	C7orf6	NA		Standard	NM_152703	NM_152703	NA	Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.4406C>T	7.37:g.92760879G>A	ENSP00000326247:p.Ser1469Phe	NA	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	37	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398691	0.42512	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805;ENST00000394472	T;T;T	0.24908	1.83;1.83;1.83	5.22	4.26	0.50523	.	0.251965	0.32518	N	0.005995	T	0.27697	0.0681	L	0.56769	1.78	0.26349	N	0.977236	B	0.15473	0.013	B	0.14578	0.011	T	0.21008	-1.0258	10	0.72032	D	0.01	-7.544	14.055	0.64761	0.0851:0.0:0.9149:0.0	.	1469	Q8IVG5	SAM9L_HUMAN	F	1469;1469;1469;291	ENSP00000326247:S1469F;ENSP00000405760:S1469F;ENSP00000408796:S1469F	ENSP00000326247:S1469F	S	-	2	0	SAMD9L	92598815	0.014000	0.17966	0.986000	0.45419	0.848000	0.48234	1.075000	0.30716	2.716000	0.92895	0.467000	0.42956	TCC	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341730.1		-	ENST00000318238.4	Missense_Mutation	SNP	7 : 92760879 - 92760879 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1134	231
GRK7	131890	broad.mit.edu	37	3	141526556	141526556	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141526556T>C	ENST00000264952.2	+	3	1257	c.1120T>C	c.(1120-1122)Tgg>Cgg	p.W374R		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	374	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TCCTGTGGACTGGTTTGCCAT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	115	115			NA	NA	3		NA											NA				141526556		2203	4300	6503	SO:0001583	missense				CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124	131890	131890			17031	protein-coding gene	gene with protein product		606987		GPRK7	NA	11717351, 11754336	Standard	NM_139209	NM_139209	NA	Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.1120T>C	3.37:g.141526556T>C	ENSP00000264952:p.Trp374Arg	NA		37	CCDS3120.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.246655	0.80024	.	.	ENSG00000114124	ENST00000264952	T	0.24723	1.84	4.93	4.93	0.64822	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.62319	0.2418	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74731	-0.3566	10	0.87932	D	0	-9.2897	14.5933	0.68386	0.0:0.0:0.0:1.0	.	374	Q8WTQ7	GRK7_HUMAN	R	374	ENSP00000264952:W374R	ENSP00000264952:W374R	W	+	1	0	GRK7	143009246	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.608000	0.82898	1.847000	0.53656	0.528000	0.53228	TGG	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353168.1		+	ENST00000264952.2	Missense_Mutation	SNP	3 : 141526556 - 141526556 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	582	104
FAM161A	84140	broad.mit.edu	37	2	62067278	62067278	+	Silent	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:62067278A>T	ENST00000404929.1	-	3	872	c.861T>A	c.(859-861)gtT>gtA	p.V287V	FAM161A_ENST00000405894.3_Silent_p.V287V	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	287					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CAGATGCAGGAACTGGATTGG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	150	153			NA	NA	2		NA											NA				62067278		1843	4090	5933	SO:0001819	synonymous_variant				CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264	84140	84140			25808	protein-coding gene	gene with protein product		613596	retinitis pigmentosa 28 (autosomal recessive)	RP28	NA	10507729, 20705278, 20705279	Standard	NM_032180	NM_032180	NA	Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000404929.1:c.861T>A	2.37:g.62067278A>T		NA	B4DJV7|Q9H8R2	37	CCDS56120.1																																																																																			FAM161A-005	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325541.2		-	ENST00000404929.1	Silent	SNP	2 : 62067278 - 62067278 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1033	167
SHMT2	6472	broad.mit.edu	37	12	57626282	57626282	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57626282G>A	ENST00000328923.3	+	6	1093	c.641G>A	c.(640-642)cGa>cAa	p.R214Q	SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000414700.3_Missense_Mutation_p.R193Q|SHMT2_ENST00000449049.3_Missense_Mutation_p.R193Q|SHMT2_ENST00000393827.4_Missense_Mutation_p.R118Q|SHMT2_ENST00000553474.1_Missense_Mutation_p.R193Q|SHMT2_ENST00000557487.1_Missense_Mutation_p.R204Q	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	214						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CTGACTGCTCGACTTTTCCGG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(150;1369 2416 49071 49364)							NA				0								G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	102	101	101		611,578,578,578,641	5.1	1	12		101	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense,missense	SHMT2	NM_001166356.1,NM_001166357.1,NM_001166358.1,NM_001166359.1,NM_005412.5	43,43,43,43,43	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	204/495,193/484,193/484,193/484,214/505	57626282	1,13005	2203	4300	6503	SO:0001583	missense			AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	6472	6472	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT	NA	8999870	Standard	NM_005412	NM_005412	NA	Approved		uc001snf.2	P34897		ENST00000328923.3:c.641G>A	12.37:g.57626282G>A	ENSP00000333667:p.Arg214Gln	NA	O00740	37	CCDS8934.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442673	0.43326	0.0	1.16E-4	ENSG00000182199	ENST00000328923;ENST00000557487;ENST00000555634;ENST00000414700;ENST00000553474;ENST00000554975;ENST00000449049;ENST00000393827	T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.09	5.09	0.68999	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.237070	0.38837	N	0.001543	T	0.31513	0.0799	L	0.47078	1.49	0.48395	D	0.999647	D;P;P;P;P	0.54772	0.968;0.837;0.862;0.93;0.911	B;B;B;B;B	0.34873	0.144;0.191;0.161;0.087;0.068	T	0.19353	-1.0308	10	0.12103	T	0.63	-4.0994	17.7941	0.88564	0.0:0.0:1.0:0.0	.	223;204;118;145;214	B4DWA7;Q8N1A5;B4DLV4;B4DP88;P34897	.;.;.;.;GLYM_HUMAN	Q	214;204;53;193;193;193;193;118	ENSP00000333667:R214Q;ENSP00000452315:R204Q;ENSP00000450930:R53Q;ENSP00000406881:R193Q;ENSP00000452419:R193Q;ENSP00000452404:R193Q;ENSP00000413770:R193Q;ENSP00000377413:R118Q	ENSP00000333667:R214Q	R	+	2	0	SHMT2	55912549	0.984000	0.35163	0.983000	0.44433	0.959000	0.62525	4.199000	0.58426	2.816000	0.96949	0.563000	0.77884	CGA	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412525.2		+	ENST00000328923.3	Missense_Mutation	SNP	12 : 57626282 - 57626282 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	930	170
SGCA	6442	broad.mit.edu	37	17	48252742	48252742	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48252742C>T	ENST00000262018.3	+	9	1144	c.1108C>T	c.(1108-1110)Cgg>Tgg	p.R370W	SGCA_ENST00000513942.1_3'UTR|HILS1_ENST00000504307.1_RNA|SGCA_ENST00000344627.6_Missense_Mutation_p.R246W|SGCA_ENST00000543315.1_Missense_Mutation_p.R246W	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	370					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CACAGGTGAGCGGCTGCCTCC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	35	32	33		1108,736	3.6	1	17		33	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	SGCA	NM_000023.2,NM_001135697.1	101,101	0,1,6501	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging	370/388,246/264	48252742	1,13003	2203	4299	6502	SO:0001583	missense			L34355	CCDS32679.1, CCDS45729.1	17q21	2014-09-17	2002-08-29		ENSG00000108823	ENSG00000108823	6442	6442			10805	protein-coding gene	gene with protein product	50kD DAG, Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin), adhalin (limb girdle muscular dystrophy 2D)	600119	sarcoglycan, alpha (50kD dystrophin-associated glycoprotein)	ADL	NA	7937874	Standard	NM_000023	NM_000023	NA	Approved	SCARMD1, LGMD2D, adhalin, DMDA2, A2	uc002iqi.3	Q16586	OTTHUMG00000162024	ENST00000262018.3:c.1108C>T	17.37:g.48252742C>T	ENSP00000262018:p.Arg370Trp	NA	A6NEB8|A8K3K7|Q13710|Q13712	37	CCDS32679.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.17|14.17	2.454366|2.454366	0.43634|0.43634	0.0|0.0	1.16E-4|1.16E-4	ENSG00000108823|ENSG00000108823	ENST00000504073|ENST00000344627;ENST00000262018;ENST00000543315	.|D;D;D	.|0.98192	.|-4.78;-4.78;-4.78	4.63|4.63	3.57|3.57	0.40892|0.40892	.|.	.|0.131881	.|0.46145	.|D	.|0.000315	D|D	0.97620|0.97620	0.9220|0.9220	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.998;0.998	.|P;P	.|0.56916	.|0.809;0.786	D|D	0.96109|0.96109	0.9075|0.9075	5|10	.|0.37606	.|T	.|0.19	-25.8703|-25.8703	10.1205|10.1205	0.42618|0.42618	0.3714:0.6285:0.0:0.0|0.3714:0.6285:0.0:0.0	.|.	.|246;370	.|Q16586-2;Q16586	.|.;SGCA_HUMAN	V|W	142|246;370;246	.|ENSP00000345522:R246W;ENSP00000262018:R370W;ENSP00000444539:R246W	.|ENSP00000262018:R370W	A|R	+|+	2|1	0|2	SGCA|SGCA	45607741|45607741	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.054000|0.054000	0.15201|0.15201	1.386000|1.386000	0.34419|0.34419	2.279000|2.279000	0.76181|0.76181	0.462000|0.462000	0.41574|0.41574	GCG|CGG	SGCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366841.1		+	ENST00000262018.3	Missense_Mutation	SNP	17 : 48252742 - 48252742 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	196	37
TRIM6	117854	broad.mit.edu	37	11	5626734	5626734	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5626734G>A	ENST00000445329.1	+	4	561	c.162G>A	c.(160-162)tcG>tcA	p.S54S	TRIM6_ENST00000506134.1_Silent_p.S54S|AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000380097.3_Silent_p.S257S|TRIM6_ENST00000380107.1_Silent_p.S203S|TRIM6_ENST00000278302.5_Silent_p.S229S|TRIM6-TRIM34_ENST00000354852.5_Silent_p.S257S|TRIM6_ENST00000507320.1_Silent_p.S54S|TRIM6_ENST00000515022.1_Silent_p.S54S	NM_001198645.1	NP_001185574.1			tripartite motif containing 6	NA										breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGACCCAGTCGCTGCGAGAGC	0.537		NA									OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	70	71			NA	NA	11		NA											NA				5626734		2201	4297	6498	SO:0001819	synonymous_variant			AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236	117854	117854		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	16277	protein-coding gene	gene with protein product		607564	tripartite motif-containing 6		NA	11331580	Standard	NM_001003818	NM_058166	NA	Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000445329.1:c.162G>A	11.37:g.5626734G>A		627		37	CCDS55738.1																																																																																			TRIM6-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000143379.3		+	ENST00000445329.1	Silent	SNP	11 : 5626734 - 5626734 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	281	53
AC012123.1	0	broad.mit.edu	37	18	30349761	30349761	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:30349761C>T	ENST00000426194.1	+	0	4				KLHL14_ENST00000358095.4_Missense_Mutation_p.R265H|KLHL14_ENST00000359358.4_Missense_Mutation_p.R265H						NA											NA						GAGGGCGAAGCGGAGGCGCTT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	42	41			NA	NA	18		NA											NA				30349761		2203	4299	6502	SO:0001623	5_prime_UTR_variant											NA	NA			NA							NA					NA						ENST00000426194.1:c.-12C>T	18.37:g.30349761C>T		NA		37		.	.	.	.	.	.	.	.	.	.	C	23.4	4.414104	0.83449	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	T;T	0.80738	-1.41;-1.41	4.91	4.91	0.64330	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.90225	0.6944	M	0.83953	2.67	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.91781	0.5435	10	0.72032	D	0.01	.	17.0807	0.86598	0.0:1.0:0.0:0.0	.	265	Q9P2G3	KLH14_HUMAN	H	265	ENSP00000352314:R265H;ENSP00000350808:R265H	ENSP00000350808:R265H	R	-	2	0	KLHL14	28603759	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.934000	0.70138	2.282000	0.76494	0.455000	0.32223	CGC	AC012123.1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000336609.2		+	ENST00000426194.1	5'UTR	SNP	18 : 30349761 - 30349761 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	418	92
PITPNM3	83394	broad.mit.edu	37	17	6387061	6387061	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6387061C>T	ENST00000262483.8	-	6	450	c.363G>A	c.(361-363)ccG>ccA	p.P121P	PITPNM3_ENST00000421306.3_Silent_p.P85P	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	NA					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		AGGAGCGCTGCGGGCAGCCTT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	1,4405	2.1+/-5.4	0,1,2202	50	48	49		255,363	-10.3	0.1	17		49	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PITPNM3	NM_001165966.1,NM_031220.3	,	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	,	85/939,121/975	6387061	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622	83394	83394		GPCR / Class A : Chemokine receptors : Atypical	21043	protein-coding gene	gene with protein product	atypical chemokine receptor 6	608921	cone rod dystrophy 5	CORD5	NA	10022914	Standard	NM_031220	NM_031220	NA	Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.363G>A	17.37:g.6387061C>T		NA	A1A5D0|Q59GH9|Q9NPQ4	37	CCDS11076.1																																																																																			PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219824.2		-	ENST00000262483.8	Silent	SNP	17 : 6387061 - 6387061 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	420	84
MAU2	23383	broad.mit.edu	37	19	19465197	19465197	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19465197C>T	ENST00000392313.6	+	17	1761	c.1582C>T	c.(1582-1584)Ctc>Ttc	p.L528F	MAU2_ENST00000262815.8_Missense_Mutation_p.L528F	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	NA					cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						TGCCATGCAGCTCGCCAGCAA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	93	103			NA	NA	19		NA											NA				19465197		2203	4300	6503	SO:0001583	missense			AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933	23383	23383			29140	protein-coding gene	gene with protein product	sister chromatid cohesion 4	614560	KIAA0892, MAU2 chromatid cohesion factor homolog (C. elegans)	KIAA0892	NA	10048485	Standard	NM_015329	NM_015329	NA	Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.1582C>T	19.37:g.19465197C>T	ENSP00000376127:p.Leu528Phe	NA	Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	37	CCDS32969.2	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812316	0.70912	.	.	ENSG00000129933	ENST00000392313;ENST00000262815	.	.	.	5.5	5.5	0.81552	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000002	T	0.71108	0.3301	M	0.63428	1.95	0.80722	D	1	D;D;D	0.89917	0.999;0.991;1.0	D;D;D	0.80764	0.994;0.986;0.993	T	0.71965	-0.4433	9	0.54805	T	0.06	.	11.4414	0.50099	0.0:0.9172:0.0:0.0828	.	104;133;528	Q9Y6X3-3;Q9Y6X3-2;Q9Y6X3	.;.;SCC4_HUMAN	F	528	.	ENSP00000262815:L528F	L	+	1	0	MAU2	19326197	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.516000	0.45520	2.605000	0.88082	0.561000	0.74099	CTC	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316748.6		+	ENST00000392313.6	Missense_Mutation	SNP	19 : 19465197 - 19465197 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	248	38
TJP1	7082	broad.mit.edu	37	15	30011019	30011019	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30011019C>A	ENST00000400011.2	-	21	3340	c.3099G>T	c.(3097-3099)caG>caT	p.Q1033H	TJP1_ENST00000356107.6_Missense_Mutation_p.Q1109H|TJP1_ENST00000346128.6_Missense_Mutation_p.Q1109H|TJP1_ENST00000545208.2_Missense_Mutation_p.Q1029H			Q07157	ZO1_HUMAN	tight junction protein 1	1109					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CTTGAGAGTGCTGATTATCAA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(77;681 1843 6309 6570)							NA				0													215	213	214			NA	NA	15		NA											NA				30011019		2087	4211	6298	SO:0001583	missense				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067	7082	7082			11827	protein-coding gene	gene with protein product	zona occludens 1, tight junction protein ZO-1	601009			NA	8825647	Standard	NM_003257	XM_005254616	NA	Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000400011.2:c.3099G>T	15.37:g.30011019C>A	ENSP00000382890:p.Gln1033His	NA	B4E3K1|Q2NKP3|Q4ZGJ6	37		.	.	.	.	.	.	.	.	.	.	C	20.8	4.042766	0.75732	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.07216	3.21;3.27	6.06	3.13	0.36017	.	0.270402	0.43416	N	0.000561	T	0.14700	0.0355	L	0.58101	1.795	0.80722	D	1	D;D;D;B	0.62365	0.991;0.975;0.966;0.001	P;P;P;B	0.54140	0.646;0.743;0.641;0.007	T	0.01108	-1.1449	10	0.52906	T	0.07	.	6.8109	0.23805	0.0:0.6724:0.1273:0.2003	.	1102;1029;1109;1033	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	H	1109;1033;1109;1029;1029	ENSP00000281537:Q1109H;ENSP00000382890:Q1033H	ENSP00000281537:Q1109H	Q	-	3	2	TJP1	27798311	0.999000	0.42202	0.988000	0.46212	0.959000	0.62525	0.657000	0.24963	0.424000	0.26061	-0.140000	0.14226	CAG	TJP1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000268241.2		-	ENST00000400011.2	Missense_Mutation	SNP	15 : 30011019 - 30011019 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	641	121
PJA1	64219	broad.mit.edu	37	X	68382676	68382676	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:68382676G>A	ENST00000361478.1	-	2	783	c.406C>T	c.(406-408)Cga>Tga	p.R136*	PJA1_ENST00000374583.1_Nonsense_Mutation_p.R136*|PJA1_ENST00000374571.4_Nonsense_Mutation_p.R81*|PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374584.3_Intron	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	136							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						ACTGGCGGTCGCTCAACAGGC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	45	45			NA	NA	X		NA											NA				68382676		2203	4300	6503	SO:0001587	stop_gained			AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191	64219	64219		RING-type (C3HC4) zinc fingers	16648	protein-coding gene	gene with protein product		300420	praja 1, praja ring finger 1		NA	12036302	Standard	NM_145119	NM_001032396	NA	Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.406C>T	X.37:g.68382676G>A	ENSP00000355014:p.Arg136*	NA	Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	37	CCDS14393.1	.	.	.	.	.	.	.	.	.	.	G	35	5.514824	0.96402	.	.	ENSG00000181191	ENST00000396010;ENST00000374583;ENST00000361478;ENST00000374571	.	.	.	3.12	3.12	0.35913	.	1.339660	0.05905	U	0.630712	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	7.011	0.24863	0.0:0.0:0.7295:0.2705	.	.	.	.	X	81;136;136;81	.	ENSP00000355014:R136X	R	-	1	2	PJA1	68299401	0.003000	0.15002	0.900000	0.35374	0.990000	0.78478	0.313000	0.19415	1.875000	0.54330	0.464000	0.42555	CGA	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057031.2		-	ENST00000361478.1	Nonsense_Mutation	SNP	X : 68382676 - 68382676 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	178	55
NPAS1	4861	broad.mit.edu	37	19	47535606	47535606	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47535606G>A	ENST00000602212.1	+	4	649	c.429G>A	c.(427-429)ttG>ttA	p.L143L	NPAS1_ENST00000602189.1_5'UTR|NPAS1_ENST00000449844.2_Silent_p.L143L			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	143	PAS 1.				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		GTCACATCTTGCAGGTGAGTG	0.642		NA									OREG0025585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	44	42			NA	NA	19		NA											NA				47535606		2203	4300	6503	SO:0001819	synonymous_variant			U77968	CCDS12694.1	19q13.2-q13.3	2013-05-21				ENSG00000130751	4861	4861		Basic helix-loop-helix proteins	7894	protein-coding gene	gene with protein product	neuronal PAS1, member of PAS superfamily 5	603346			NA	9012850, 9079689	Standard	NM_002517	NM_002517	NA	Approved	MOP5, PASD5, bHLHe11	uc002pfy.3	Q99742		ENST00000602212.1:c.429G>A	19.37:g.47535606G>A		947	Q99632|Q9BY83	37	CCDS12694.1																																																																																			NPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466658.1		+	ENST00000602212.1	Silent	SNP	19 : 47535606 - 47535606 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	522	112
PPP2R5C	5527	broad.mit.edu	37	14	102368104	102368104	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102368104G>T	ENST00000334743.5	+	9	949	c.901G>T	c.(901-903)Gaa>Taa	p.E301*	PPP2R5C_ENST00000445439.3_Nonsense_Mutation_p.E301*|PPP2R5C_ENST00000422945.2_Nonsense_Mutation_p.E332*|PPP2R5C_ENST00000328724.5_Nonsense_Mutation_p.E356*|PPP2R5C_ENST00000350249.3_Nonsense_Mutation_p.E301*|PPP2R5C_ENST00000557095.1_Nonsense_Mutation_p.E301*	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	301					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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CAGTCCAAAAGAAGTAATGTT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	117	119			NA	NA	14		NA											NA				102368104		2203	4300	6503	SO:0001587	stop_gained			L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304	5527	5527		Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits	9311	protein-coding gene	gene with protein product		601645	protein phosphatase 2, regulatory subunit B (B56), gamma isoform, protein phosphatase 2, regulatory subunit B', gamma isoform		NA	7592815	Standard	NM_002719	NM_002719	NA	Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.901G>T	14.37:g.102368104G>T	ENSP00000333905:p.Glu301*	NA	B5BUA5|Q14391|Q15060|Q15174	37	CCDS9964.1	.	.	.	.	.	.	.	.	.	.	G	37	6.606893	0.97701	.	.	ENSG00000078304	ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000334756;ENST00000445439;ENST00000334743;ENST00000557095;ENST00000557716	.	.	.	5.28	4.39	0.52855	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-12.6198	13.7895	0.63131	0.074:0.0:0.926:0.0	.	.	.	.	X	332;356;330;301;199;301;301;301;97	.	ENSP00000329009:E356X	E	+	1	0	PPP2R5C	101437857	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.751000	0.98889	1.221000	0.43506	0.655000	0.94253	GAA	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414373.2		+	ENST00000334743.5	Nonsense_Mutation	SNP	14 : 102368104 - 102368104 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	557	109
ACAT1	38	broad.mit.edu	37	11	108016987	108016987	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108016987C>T	ENST00000265838.4	+	11	1155	c.1064C>T	c.(1063-1065)gCc>gTc	p.A355V		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	355					acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	GTAAATGAAGCCTTTAGTCTG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	172	164			NA	NA	11		NA											NA				108016987		2201	4298	6499	SO:0001583	missense			D90228	CCDS8339.1	11q22.3	2010-04-30	2010-04-30		ENSG00000075239	ENSG00000075239	38	38	2.3.1.9		93	protein-coding gene	gene with protein product	acetoacetyl Coenzyme A thiolase	607809	acetyl-Coenzyme A acetyltransferase 1	ACAT	NA	1979337	Standard	NM_000019	NM_000019	NA	Approved	THIL	uc001pjy.3	P24752	OTTHUMG00000166381	ENST00000265838.4:c.1064C>T	11.37:g.108016987C>T	ENSP00000265838:p.Ala355Val	NA	B2R6H1	37	CCDS8339.1	.	.	.	.	.	.	.	.	.	.	C	35	5.515935	0.96402	.	.	ENSG00000075239	ENST00000265838	D	0.96619	-4.07	5.86	5.86	0.93980	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99187	0.9718	H	0.99404	4.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98609	1.0662	10	0.87932	D	0	-6.009	20.1986	0.98248	0.0:1.0:0.0:0.0	.	355	P24752	THIL_HUMAN	V	355	ENSP00000265838:A355V	ENSP00000265838:A355V	A	+	2	0	ACAT1	107522197	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.584000	0.82572	2.781000	0.95711	0.650000	0.86243	GCC	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389474.1		+	ENST00000265838.4	Missense_Mutation	SNP	11 : 108016987 - 108016987 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	729	30
KCNJ15	3772	broad.mit.edu	37	21	39671643	39671643	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:39671643A>T	ENST00000328656.4	+	4	763	c.460A>T	c.(460-462)Acc>Tcc	p.T154S	KCNJ15_ENST00000398938.2_Missense_Mutation_p.T154S|KCNJ15_ENST00000398930.1_Missense_Mutation_p.T154S|KCNJ15_ENST00000398934.1_Missense_Mutation_p.T154S|KCNJ15_ENST00000398932.1_Missense_Mutation_p.T154S	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	NA					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						GGTCATCACGACCTTGATTGA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	84	86			NA	NA	21		NA											NA				39671643		2203	4300	6503	SO:0001583	missense			Y10745	CCDS13656.1	21q22.2	2011-07-05			ENSG00000157551	ENSG00000157551	3772	3772		Potassium channels, Voltage-gated ion channels / Potassium channels, Inwardly rectifying	6261	protein-coding gene	gene with protein product		602106			NA	9299242, 8995301, 16382105	Standard	NM_002243	NM_170736	NA	Approved	Kir4.2, Kir1.3, IRKK	uc002ywx.4	Q99712	OTTHUMG00000090609	ENST00000328656.4:c.460A>T	21.37:g.39671643A>T	ENSP00000331698:p.Thr154Ser	NA	D3DSH5|O00564|Q96L28|Q99446	37	CCDS13656.1	.	.	.	.	.	.	.	.	.	.	A	14.43	2.534235	0.45073	.	.	ENSG00000157551	ENST00000328656;ENST00000398928;ENST00000398938;ENST00000398932;ENST00000438657;ENST00000398930;ENST00000398934;ENST00000398927	D;D;D;D;D;D;D;D	0.95885	-3.84;-3.26;-3.84;-3.84;-3.84;-3.84;-3.84;-3.26	5.83	5.83	0.93111	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.113444	0.64402	D	0.000014	D	0.92967	0.7762	N	0.16266	0.395	0.44188	D	0.997006	P	0.46621	0.881	P	0.50192	0.634	D	0.92329	0.5872	9	.	.	.	.	16.2127	0.82178	1.0:0.0:0.0:0.0	.	154	Q99712	IRK15_HUMAN	S	154	ENSP00000331698:T154S;ENSP00000381902:T154S;ENSP00000381911:T154S;ENSP00000381905:T154S;ENSP00000414487:T154S;ENSP00000381904:T154S;ENSP00000381907:T154S;ENSP00000381901:T154S	.	T	+	1	0	KCNJ15	38593513	0.989000	0.36119	0.897000	0.35233	0.453000	0.32348	4.842000	0.62831	2.236000	0.73375	0.533000	0.62120	ACC	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207181.2		+	ENST00000328656.4	Missense_Mutation	SNP	21 : 39671643 - 39671643 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	377	84
IFRD1	3475	broad.mit.edu	37	7	112095877	112095877	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:112095877A>T	ENST00000403825.3	+	2	415	c.154A>T	c.(154-156)Agc>Tgc	p.S52C	IFRD1_ENST00000429071.1_Missense_Mutation_p.S52C|IFRD1_ENST00000535603.1_Missense_Mutation_p.S2C|IFRD1_ENST00000005558.4_Missense_Mutation_p.S52C	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	52					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						TGAAACAATGAGCCATTGCAG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	144	146			NA	NA	7		NA											NA				112095877		2203	4300	6503	SO:0001583	missense			Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652	3475	3475			5456	protein-coding gene	gene with protein product		603502			NA	9722946	Standard	NM_001550	NM_001550	NA	Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.154A>T	7.37:g.112095877A>T	ENSP00000384477:p.Ser52Cys	NA	O75234|Q5U013|Q9BVE4	37	CCDS34736.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.851288	0.91355	.	.	ENSG00000006652	ENST00000005558;ENST00000443101;ENST00000445335;ENST00000403825;ENST00000429071;ENST00000476927;ENST00000440625;ENST00000535603	T;T;T	0.60171	0.21;0.21;0.43	5.06	5.06	0.68205	Interferon-related developmental regulator, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78362	0.4271	M	0.85462	2.755	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.97110	0.947;1.0	T	0.82657	-0.0349	10	0.87932	D	0	-21.3305	15.0963	0.72238	1.0:0.0:0.0:0.0	.	52;52	C9JA65;O00458	.;IFRD1_HUMAN	C	52;2;52;52;52;2;2;2	ENSP00000005558:S52C;ENSP00000384477:S52C;ENSP00000439188:S2C	ENSP00000005558:S52C	S	+	1	0	IFRD1	111883113	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.622000	0.90953	2.026000	0.59711	0.377000	0.23210	AGC	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000338700.1		+	ENST00000403825.3	Missense_Mutation	SNP	7 : 112095877 - 112095877 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	589	89
CCDC88A	55704	broad.mit.edu	37	2	55589552	55589552	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55589552C>T	ENST00000263630.8	-	7	1295	c.519G>A	c.(517-519)ctG>ctA	p.L173L	CCDC88A_ENST00000336838.6_Silent_p.L173L|CCDC88A_ENST00000413716.2_Silent_p.L173L|CCDC88A_ENST00000436346.1_Silent_p.L173L	NM_018084.4	NP_060554.3	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	173					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CCATCCATTGCAGGTCAAACA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	97	99			NA	NA	2		NA											NA				55589552		2203	4300	6503	SO:0001819	synonymous_variant			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355	55704	55704			25523	protein-coding gene	gene with protein product	Galpha-interacting vesicle-associated protein, Akt-phosphorylation enhancer, girdin, girders of actin filaments	609736	KIAA1212	KIAA1212	NA	15749703, 15753085	Standard	NM_017571	NM_001135597	NA	Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000263630.8:c.519G>A	2.37:g.55589552C>T		NA	A1IGE7|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	37	CCDS33203.1																																																																																			CCDC88A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324406.3		-	ENST00000263630.8	Silent	SNP	2 : 55589552 - 55589552 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	181	38
OSBPL2	9885	broad.mit.edu	37	20	60861650	60861650	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60861650C>T	ENST00000313733.3	+	11	1210	c.1008C>T	c.(1006-1008)tcC>tcT	p.S336S	OSBPL2_ENST00000358053.2_Silent_p.S324S|OSBPL2_ENST00000439951.2_Silent_p.S244S	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	336					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			ATGAAGACTCCGGGAAGGCTG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	97	98			NA	NA	20		NA											NA				60861650		2203	4300	6503	SO:0001819	synonymous_variant			AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703	9885	9885		Oxysterol binding proteins	15761	protein-coding gene	gene with protein product		606731	oxysterol-binding protein-like 2		NA	10588946, 11861666	Standard	NM_014835	NM_144498	NA	Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.1008C>T	20.37:g.60861650C>T		NA	A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	37	CCDS13495.1																																																																																			OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080021.1		+	ENST00000313733.3	Silent	SNP	20 : 60861650 - 60861650 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1067	202
ZNF586	54807	broad.mit.edu	37	19	58290546	58290546	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58290546G>A	ENST00000396150.4	+	2	611	c.464G>A	c.(463-465)gGa>gAa	p.G155E	ZNF586_ENST00000391702.3_Silent_p.R154R|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000396154.2_Silent_p.R197R	NM_001077426.2	NP_001070894.1	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTAACCACAGGAAAGTTCACT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	104	104			NA	NA	19		NA											NA				58290546		2156	4290	6446	SO:0001583	missense			AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828	54807	54807		Zinc fingers, C2H2-type, -	25949	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_017652	NM_017652	NA	Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396150.4:c.464G>A	19.37:g.58290546G>A	ENSP00000379454:p.Gly155Glu	NA	A8MY63	37	CCDS56107.1	.	.	.	.	.	.	.	.	.	.	G	6.409	0.443595	0.12164	.	.	ENSG00000083828	ENST00000396150	T	0.04551	3.6	1.56	0.411	0.16392	.	.	.	.	.	T	0.05410	0.0143	.	.	.	0.09310	N	0.999998	P	0.43231	0.801	P	0.47786	0.557	T	0.35992	-0.9766	8	0.29301	T	0.29	.	2.7407	0.05252	0.3539:0.2537:0.3924:0.0	.	155	A0JLV8	.	E	155	ENSP00000379454:G155E	ENSP00000379454:G155E	G	+	2	0	ZNF586	62982358	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.656000	0.05342	-0.015000	0.14150	0.591000	0.81541	GGA	ZNF586-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466827.1		+	ENST00000396150.4	Missense_Mutation	SNP	19 : 58290546 - 58290546 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	608	101
OR1J2	26740	broad.mit.edu	37	9	125273896	125273896	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125273896C>A	ENST00000335302.5	+	1	816	c.816C>A	c.(814-816)gtC>gtA	p.V272V		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						ACAAGGATGTCATTGTGGCTC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													195	175	182			NA	NA	9		NA											NA				125273896		2203	4300	6503	SO:0001819	synonymous_variant				CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233	26740	26740		GPCR / Class A : Olfactory receptors	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5	NA		Standard		XM_005251920	NA	Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.816C>A	9.37:g.125273896C>A		NA	A3KFL9|Q6IF14|Q96R90|Q9NZP1	37	CCDS35121.1																																																																																			OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053932.1		+	ENST00000335302.5	Silent	SNP	9 : 125273896 - 125273896 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	844	126
ZCCHC8	55596	broad.mit.edu	37	12	122958719	122958719	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122958719G>A	ENST00000543897.1	-	12	3090	c.735C>T	c.(733-735)gtC>gtT	p.V245V	ZCCHC8_ENST00000336229.4_Silent_p.V483V|ZCCHC8_ENST00000536306.1_Silent_p.V245V|ZCCHC8_ENST00000538116.1_Silent_p.V94V			Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	483						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GAGGGGTGAAGACGGGTGGAG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	57	55			NA	NA	12		NA											NA				122958719		2100	4229	6329	SO:0001819	synonymous_variant			BC017704		12q24.31	2014-04-14				ENSG00000033030	55596	55596		Zinc fingers, CCHC domain containing	25265	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_017612	XM_005253581	NA	Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000543897.1:c.735C>T	12.37:g.122958719G>A		NA	Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	37																																																																																				ZCCHC8-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000401467.1		-	ENST00000543897.1	Silent	SNP	12 : 122958719 - 122958719 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	389	72
RAD21	5885	broad.mit.edu	37	8	117864941	117864941	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:117864941T>C	ENST00000297338.2	-	10	1455	c.1168A>G	c.(1168-1170)Aca>Gca	p.T390A		NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	390	Interaction with STAG1.|Interaction with WAPAL and PDS5B.				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					AGACAGCGTGTAAAGAGCtat	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	57	57			NA	NA	8		NA											NA				117864941		2203	4300	6503	SO:0001583	missense			BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754	5885	5885			9811	protein-coding gene	gene with protein product	sister chromatid cohesion 1	606462	RAD21 (S. pombe) homolog		NA	8812457	Standard	NM_006265	NM_006265	NA	Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.1168A>G	8.37:g.117864941T>C	ENSP00000297338:p.Thr390Ala	NA	A8K0E0|Q15001|Q99568	37	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.099247	0.56183	.	.	ENSG00000164754	ENST00000297338	T	0.65732	-0.17	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.72195	0.3430	L	0.56396	1.775	0.80722	D	1	D	0.58970	0.984	D	0.68192	0.956	T	0.67795	-0.5578	10	0.08381	T	0.77	0.1095	15.669	0.77258	0.0:0.0:0.0:1.0	.	390	O60216	RAD21_HUMAN	A	390	ENSP00000297338:T390A	ENSP00000297338:T390A	T	-	1	0	RAD21	117934122	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.952000	0.70282	2.092000	0.63282	0.460000	0.39030	ACA	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381184.1		-	ENST00000297338.2	Missense_Mutation	SNP	8 : 117864941 - 117864941 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	351	80
ZNF654	55279	broad.mit.edu	37	3	88188660	88188660	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:88188660C>T	ENST00000309495.5	+	1	407	c.200C>T	c.(199-201)aCt>aTt	p.T67I	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	67					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		CAGGAAGTCACTGCTTTGGAA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	85	85			NA	NA	3		NA											NA				88188660		1881	4108	5989	SO:0001583	missense			AF543494	CCDS46874.1	3p11.1	2005-01-10			ENSG00000175105	ENSG00000175105	55279	55279			25612	protein-coding gene	gene with protein product					NA		Standard	NM_018293	NM_018293	NA	Approved	FLJ10997, FLJ21142	uc003dqv.3	Q8IZM8	OTTHUMG00000159097	ENST00000309495.5:c.200C>T	3.37:g.88188660C>T	ENSP00000312141:p.Thr67Ile	NA	Q9H791|Q9NV14	37	CCDS46874.1	.	.	.	.	.	.	.	.	.	.	C	0.087	-1.173623	0.01646	.	.	ENSG00000175105	ENST00000309495	T	0.10192	2.9	5.43	3.61	0.41365	.	0.482456	0.19907	N	0.103373	T	0.05914	0.0154	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35051	-0.9804	10	0.35671	T	0.21	.	10.8603	0.46823	0.0:0.8662:0.0:0.1338	.	67	Q8IZM8	ZN654_HUMAN	I	67	ENSP00000312141:T67I	ENSP00000312141:T67I	T	+	2	0	ZNF654	88271350	0.002000	0.14202	0.404000	0.26397	0.406000	0.30931	1.473000	0.35387	0.655000	0.30866	0.549000	0.68633	ACT	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353285.2		+	ENST00000309495.5	Missense_Mutation	SNP	3 : 88188660 - 88188660 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	281	56
GABRA5	2558	broad.mit.edu	37	15	27185073	27185073	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27185073C>T	ENST00000335625.5	+	9	1614	c.726C>T	c.(724-726)ggC>ggT	p.G242G	GABRA5_ENST00000355395.5_Splice_Site_p.G242G|GABRA5_ENST00000400081.3_Splice_Site_p.G242G	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	242					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TATTTGCAGGCGAATACACAA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	130	131			NA	NA	15		NA											NA				27185073		1999	4185	6184	SO:0001630	splice_region_variant				CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297	2558	2558		GABA receptors, Ligand-gated ion channels / GABA(A) receptors	4079	protein-coding gene	gene with protein product	GABA(A) receptor, alpha 5	137142			NA	1321750	Standard		NM_000810	NA	Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.725-1C>T	15.37:g.27185073C>T		NA	A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	37	CCDS45194.1																																																																																			GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415234.1	Silent	+	ENST00000335625.5	Splice_Site	SNP	15 : 27185073 - 27185073 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	251	48
ARAP3	64411	broad.mit.edu	37	5	141059951	141059951	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141059951C>T	ENST00000508305.1	-	0	118				ARAP3_ENST00000239440.4_Missense_Mutation_p.A35T			Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	NA					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCCCGGGCTGCACCTGCTGTA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	52	52			NA	NA	5		NA											NA				141059951		2203	4299	6502	SO:0001623	5_prime_UTR_variant			AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318	64411	64411		ADP-ribosylation factor GTPase activating proteins, Sterile alpha motif (SAM) domain containing, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing	24097	protein-coding gene	gene with protein product		606647	centaurin, delta 3	CENTD3	NA	11804589, 12015138	Standard	NM_022481	XM_005268497	NA	Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000508305.1:c.-132G>A	5.37:g.141059951C>T		NA	D3DQE3	37		.	.	.	.	.	.	.	.	.	.	C	25.6	4.652939	0.88056	.	.	ENSG00000120318	ENST00000239440;ENST00000504448	D;T	0.85702	-2.02;-0.02	4.39	4.39	0.52855	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.080522	0.47093	D	0.000241	D	0.86464	0.5939	L	0.41356	1.27	0.80722	D	1	P	0.51791	0.948	P	0.57371	0.819	D	0.87025	0.2131	10	0.52906	T	0.07	.	13.7861	0.63110	0.0:1.0:0.0:0.0	.	35	Q8WWN8	ARAP3_HUMAN	T	35	ENSP00000239440:A35T;ENSP00000421148:A35T	ENSP00000239440:A35T	A	-	1	0	ARAP3	141040135	1.000000	0.71417	0.999000	0.59377	0.867000	0.49689	3.638000	0.54332	2.272000	0.75746	0.462000	0.41574	GCA	ARAP3-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000373653.2		-	ENST00000508305.1	5'UTR	SNP	5 : 141059951 - 141059951 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	322	71
LIPG	9388	broad.mit.edu	37	18	47091750	47091750	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47091750G>A	ENST00000427224.2	+	2	410	c.161G>A	c.(160-162)cGc>cAc	p.R54H	LIPG_ENST00000580036.1_Missense_Mutation_p.R54H|LIPG_ENST00000261292.4_Missense_Mutation_p.R54H|LIPG_ENST00000577628.1_Missense_Mutation_p.R90H			Q9Y5X9	LIPE_HUMAN	lipase, endothelial	54					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						TTTAACCTCCGCACCTCCAAG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(126;280 1778 12814 26243 34948)							NA				0													118	96	103			NA	NA	18		NA											NA				47091750		2203	4300	6503	SO:0001583	missense			AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670	9388	9388			6623	protein-coding gene	gene with protein product		603684			NA	10318835, 10192396	Standard	NM_006033	XM_005258390	NA	Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000427224.2:c.161G>A	18.37:g.47091750G>A	ENSP00000387978:p.Arg54His	NA	B0LPG6|Q6P9C8|Q6UW82	37		.	.	.	.	.	.	.	.	.	.	G	12.69	2.013161	0.35511	.	.	ENSG00000101670	ENST00000261292;ENST00000427224	D;D	0.90504	-2.68;-2.68	5.34	1.49	0.22878	Lipase, N-terminal (1);	0.251674	0.44688	D	0.000424	T	0.78381	0.4274	N	0.16066	0.365	0.30685	N	0.751944	B;B;B	0.24768	0.024;0.111;0.099	B;B;B	0.25291	0.027;0.059;0.024	T	0.68123	-0.5492	10	0.37606	T	0.19	-24.4886	4.4407	0.11573	0.2138:0.0:0.5156:0.2705	.	54;54;54	B4DTR8;Q9Y5X9;Q9Y5X9-2	.;LIPE_HUMAN;.	H	54	ENSP00000261292:R54H;ENSP00000387978:R54H	ENSP00000261292:R54H	R	+	2	0	LIPG	45345748	0.998000	0.40836	0.898000	0.35279	0.772000	0.43724	3.609000	0.54117	-0.010000	0.14271	0.561000	0.74099	CGC	LIPG-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000447547.1		+	ENST00000427224.2	Missense_Mutation	SNP	18 : 47091750 - 47091750 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	305	56
H1FNT	341567	broad.mit.edu	37	12	48723547	48723547	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48723547G>A	ENST00000335017.1	+	1	785	c.473G>A	c.(472-474)cGc>cAc	p.R158H		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	158	Arg-rich.				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						CGGAGGCGCCGCCAGCCCCTT	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													10	11	11			NA	NA	12		NA											NA				48723547		2151	4193	6344	SO:0001583	missense			AY302593	CCDS8762.1	12q13.11	2011-01-27				ENSG00000187166	341567	341567		Histones / Replication-independent	24893	protein-coding gene	gene with protein product					NA	15710904	Standard	NM_181788	NM_181788	NA	Approved	HANP1, H1T2	uc001rrm.3	Q75WM6		ENST00000335017.1:c.473G>A	12.37:g.48723547G>A	ENSP00000334805:p.Arg158His	NA	Q147U8|Q5GKZ5|Q7Z694	37	CCDS8762.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.714486	0.48622	.	.	ENSG00000187166	ENST00000335017	T	0.18810	2.19	4.83	-1.92	0.07618	.	0.851979	0.09573	N	0.783862	T	0.14399	0.0348	L	0.43152	1.355	0.09310	N	1	B	0.30211	0.273	B	0.20184	0.028	T	0.20739	-1.0266	10	0.52906	T	0.07	-2.4843	6.1284	0.20192	0.238:0.3845:0.3775:0.0	.	158	Q75WM6	H1FNT_HUMAN	H	158	ENSP00000334805:R158H	ENSP00000334805:R158H	R	+	2	0	H1FNT	47009814	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.264000	0.18497	-0.333000	0.08476	0.650000	0.86243	CGC	H1FNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406516.1		+	ENST00000335017.1	Missense_Mutation	SNP	12 : 48723547 - 48723547 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	82	18
KCNE2	9992	broad.mit.edu	37	21	35742840	35742840	+	Silent	SNP	T	T	G	rs138954752		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35742840T>G	ENST00000290310.3	+	2	203	c.63T>G	c.(61-63)acT>acG	p.T21T		NM_172201.1	NP_751951.1	Q9Y6J6	KCNE2_HUMAN	potassium voltage-gated channel, Isk-related family, member 2	NA					blood circulation|muscle contraction|regulation of heart contraction	lysosome|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(1)	2						TTTTTATTACTTATATGGACA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	107	105			NA	NA	21		NA											NA				35742840		2203	4300	6503	SO:0001819	synonymous_variant			AF071002	CCDS13635.1	21q22.1	2014-09-17			ENSG00000159197	ENSG00000159197	NA	9992		Potassium channels	6242	protein-coding gene	gene with protein product		603796			NA	10219239	Standard		NM_172201	NA	Approved	MiRP1, LQT6	uc002ytt.1	Q9Y6J6	OTTHUMG00000086189	ENST00000290310.3:c.63T>G	21.37:g.35742840T>G		NA	A5H1P3|D3DSF8|Q52LJ5	37	CCDS13635.1																																																																																			KCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000194068.2		+	ENST00000290310.3	Silent	SNP	21 : 35742840 - 35742840 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	518	53
GCKR	2646	broad.mit.edu	37	2	27728602	27728602	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27728602C>T	ENST00000264717.2	+	10	831	c.768C>T	c.(766-768)ggC>ggT	p.G256G	GCKR_ENST00000424318.2_Silent_p.G66G	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	256	SIS 1.		G -> S (in dbSNP:rs8179212).		carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					GTCTCAGCGGCTCCTCCCGGA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	69	70			NA	NA	2		NA											NA				27728602		2203	4300	6503	SO:0001819	synonymous_variant			Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734	2646	2646			4196	protein-coding gene	gene with protein product		600842	glucokinase (hexokinase 4) regulatory protein		NA	9570959, 8662230	Standard	NM_001486	NM_001486	NA	Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.768C>T	2.37:g.27728602C>T		NA	A1L4C2|Q53RY6|Q99522	37	CCDS1757.1																																																																																			GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250214.1		+	ENST00000264717.2	Silent	SNP	2 : 27728602 - 27728602 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	392	35
GMPR	2766	broad.mit.edu	37	6	16254937	16254937	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:16254937C>T	ENST00000259727.4	+	4	550	c.436C>T	c.(436-438)Cgt>Tgt	p.R146C		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	146					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				GAAACTTGTCCGTGCCAAATT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	167	171			NA	NA	6		NA											NA				16254937		2203	4300	6503	SO:0001583	missense				CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	2766	2766	1.7.1.7		4376	protein-coding gene	gene with protein product		139265			NA	2194676	Standard		NM_006877	NA	Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.436C>T	6.37:g.16254937C>T	ENSP00000259727:p.Arg146Cys	NA	Q96HQ6	37	CCDS4537.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.664263	0.88251	.	.	ENSG00000137198	ENST00000259727	T	0.80824	-1.42	5.65	5.65	0.86999	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.047756	0.85682	D	0.000000	D	0.94238	0.8150	H	0.98833	4.345	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.96190	0.9137	10	0.87932	D	0	-2.5434	19.7405	0.96228	0.0:1.0:0.0:0.0	.	146	P36959	GMPR1_HUMAN	C	146	ENSP00000259727:R146C	ENSP00000259727:R146C	R	+	1	0	GMPR	16362916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.560000	0.60802	2.655000	0.90218	0.655000	0.94253	CGT	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039942.2		+	ENST00000259727.4	Missense_Mutation	SNP	6 : 16254937 - 16254937 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	715	128
DHX16	8449	broad.mit.edu	37	6	30628018	30628018	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30628018C>T	ENST00000376442.3	-	10	1741	c.1546G>A	c.(1546-1548)Gtg>Atg	p.V516M	DHX16_ENST00000376437.5_Splice_Site_p.V35M|DHX16_ENST00000480966.1_5'UTR	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	516	Helicase ATP-binding.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						ACCATCACCACGCTGGGGAGG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	89	94			NA	NA	6		NA											NA				30628018		1510	2709	4219	SO:0001630	splice_region_variant			AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560	8449	8449		DEAH-boxes	2739	protein-coding gene	gene with protein product		603405	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16	DDX16	NA	9547260	Standard	NM_003587	NM_003587	NA	Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.1545-1G>A	6.37:g.30628018C>T		NA	O60322|Q5JP45|Q969X7|Q96QC1	37	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.660165	0.67586	.	.	ENSG00000204560	ENST00000376442;ENST00000376437	T;T	0.24723	1.84;1.84	4.9	4.9	0.64082	DEAD-like helicase (2);DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.53786	0.1818	M	0.92970	3.365	0.80722	D	1	D;D;D	0.76494	0.995;0.99;0.999	P;D;D	0.65874	0.791;0.914;0.939	T	0.65796	-0.6081	10	0.87932	D	0	.	17.3695	0.87372	0.0:1.0:0.0:0.0	.	456;516;35	B4DZ28;O60231;Q5SQH5	.;DHX16_HUMAN;.	M	516;35	ENSP00000365625:V516M;ENSP00000365620:V35M	ENSP00000365620:V35M	V	-	1	0	DHX16	30735997	0.996000	0.38824	0.962000	0.40283	0.409000	0.31022	3.337000	0.52120	2.707000	0.92482	0.555000	0.69702	GTG	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076076.2	Missense_Mutation	-	ENST00000376442.3	Splice_Site	SNP	6 : 30628018 - 30628018 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	225	42
ALG5	29880	broad.mit.edu	37	13	37573380	37573380	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37573380G>A	ENST00000239891.3	-	1	124	c.58C>T	c.(58-60)Ctc>Ttc	p.L20F	ALG5_ENST00000443765.1_Missense_Mutation_p.L20F|ALG5_ENST00000413537.2_Missense_Mutation_p.L20F|ALG5_ENST00000496689.1_Intron|EXOSC8_ENST00000489088.1_Intron	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	20					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		ACCAGTACGAGGGCTGCGGCC	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	21	20			NA	NA	13		NA											NA				37573380		2187	4284	6471	SO:0001583	missense			AF088028	CCDS9361.1, CCDS45033.1	13q13.1	2013-02-22	2013-02-21		ENSG00000120697	ENSG00000120697	29880	29880	2.4.1.117	Glycosyltransferase family 2 domain containing	20266	protein-coding gene	gene with protein product		604565	asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase), asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae)		NA	10359825	Standard	NM_013338	NM_013338	NA	Approved	bA421P11.2	uc001uvy.3	Q9Y673	OTTHUMG00000016741	ENST00000239891.3:c.58C>T	13.37:g.37573380G>A	ENSP00000239891:p.Leu20Phe	NA	B4DR37|Q5TBA6	37	CCDS9361.1	.	.	.	.	.	.	.	.	.	.	g	9.080	0.998965	0.19121	.	.	ENSG00000120697	ENST00000443765;ENST00000239891;ENST00000413537	D;T	0.83992	-1.79;-1.21	5.22	3.48	0.39840	.	0.248451	0.33753	N	0.004583	D	0.84808	0.5554	L	0.49640	1.575	0.45403	D	0.998389	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.991	T	0.80491	-0.1359	10	0.10636	T	0.68	.	8.6488	0.34022	0.0816:0.1539:0.7646:0.0	.	20;20	Q9Y673-2;Q9Y673	.;ALG5_HUMAN	F	20	ENSP00000239891:L20F;ENSP00000389647:L20F	ENSP00000239891:L20F	L	-	1	0	ALG5	36471380	0.197000	0.23362	0.025000	0.17156	0.007000	0.05969	0.743000	0.26231	1.201000	0.43203	-0.215000	0.12644	CTC	ALG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044528.2		-	ENST00000239891.3	Missense_Mutation	SNP	13 : 37573380 - 37573380 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	237	36
C2CD2L	9854	broad.mit.edu	37	11	118984608	118984608	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118984608A>G	ENST00000528586.1	+	8	847	c.777A>G	c.(775-777)acA>acG	p.T259T	C2CD2L_ENST00000336702.3_Silent_p.T512T			O14523	C2C2L_HUMAN	C2CD2-like	511						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						TAGCAGAGACAGCGATTCGCC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	58	57			NA	NA	11		NA											NA				118984608		2200	4295	6495	SO:0001819	synonymous_variant			AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375	9854	9854			29000	protein-coding gene	gene with protein product			transmembrane protein 24	TMEM24	NA	15289880	Standard	NM_014807	XM_005271738	NA	Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.777A>G	11.37:g.118984608A>G		NA	Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	37																																																																																				C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000388199.2		+	ENST00000528586.1	Silent	SNP	11 : 118984608 - 118984608 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	363	58
TXNDC2	84203	broad.mit.edu	37	18	9888089	9888089	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9888089G>A	ENST00000357775.5	+	2	1647	c.1412G>A	c.(1411-1413)tGc>tAc	p.C471Y	TXNDC2_ENST00000306084.6_Missense_Mutation_p.C538Y|TXNDC2_ENST00000536353.2_3'UTR	NM_032243.5	NP_115619.4	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	NA	Thioredoxin.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GATGAACTTTGCGGCGCCCTT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	36	35			NA	NA	18		NA											NA				9888089		2203	4300	6503	SO:0001583	missense			AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454	NA	84203			16470	protein-coding gene	gene with protein product	sperm-specific thioredoxin 1				NA	11230166, 11399755	Standard		NM_001098529	NA	Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000357775.5:c.1412G>A	18.37:g.9888089G>A	ENSP00000350419:p.Cys471Tyr	NA	Q8N7U4|Q96RX3|Q9H0L8	37	CCDS11846.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.325117	0.24080	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.13420	2.59;2.59	3.92	0.99	0.19807	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.609210	0.17247	N	0.181337	T	0.14830	0.0358	N	0.08118	0	0.47009	D	0.999282	D	0.71674	0.998	D	0.68943	0.961	T	0.06752	-1.0809	9	.	.	.	-0.0356	11.862	0.52471	0.0:0.595:0.405:0.0	.	538	Q86VQ3	TXND2_HUMAN	Y	336;471;538;523	ENSP00000350419:C471Y;ENSP00000304908:C538Y	.	C	+	2	0	TXNDC2	9878089	0.872000	0.30054	0.681000	0.30009	0.169000	0.22640	0.403000	0.20982	0.193000	0.20303	-0.310000	0.09108	TGC	TXNDC2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254488.3		+	ENST00000357775.5	Missense_Mutation	SNP	18 : 9888089 - 9888089 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	179	24
CAMTA1	23261	broad.mit.edu	37	1	7724340	7724340	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7724340G>A	ENST00000303635.7	+	9	1940	c.1733G>A	c.(1732-1734)aGc>aAc	p.S578N	CAMTA1_ENST00000439411.2_Missense_Mutation_p.S578N	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	578					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)		CTGAGTCCCAGCACCACCCTG	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													32	38	36			NA	NA	1		NA											NA				7724340		2202	4299	6501	SO:0001583	missense			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.1733G>A	1.37:g.7724340G>A	ENSP00000306522:p.Ser578Asn	NA	A7MBM4|Q5VUE1|Q6V701|Q8WYI3	37	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	g	18.39	3.612615	0.66672	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.39406	1.08;1.08	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.61502	0.2352	L	0.53249	1.67	0.47245	D	0.999365	D	0.63880	0.993	D	0.70227	0.968	T	0.62845	-0.6768	10	0.62326	D	0.03	-20.1297	18.9116	0.92487	0.0:0.0:1.0:0.0	.	578	Q9Y6Y1	CMTA1_HUMAN	N	578	ENSP00000306522:S578N;ENSP00000402561:S578N	ENSP00000306522:S578N	S	+	2	0	CAMTA1	7646927	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.528000	0.73807	2.488000	0.83962	0.493000	0.49557	AGC	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000003588.3		+	ENST00000303635.7	Missense_Mutation	SNP	1 : 7724340 - 7724340 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	462	50
PCDHA9	9752	broad.mit.edu	37	5	140229908	140229908	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140229908G>A	ENST00000532602.1	+	1	2861	c.1828G>A	c.(1828-1830)Gag>Aag	p.E610K	PCDHA9_ENST00000378122.3_Missense_Mutation_p.E610K|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_031857.1	NP_114063.1			protocadherin alpha 9	NA										breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTTCATACGAGCTGCAGCC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(55;1800 1972 14909)							NA				0													61	67	65			NA	NA	5		NA											NA				140229908		2196	4269	6465	SO:0001583	missense			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961	9752	9752		Cadherins / Protocadherins : Clustered	8675	other	complex locus constituent	KIAA0345-like 5	606315			NA	10380929	Standard	NM_031857	NM_031857	NA	Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1828G>A	5.37:g.140229908G>A	ENSP00000436042:p.Glu610Lys	NA		37	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599753	0.46318	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.51071	0.72;0.72	3.51	3.51	0.40186	Cadherin (4);Cadherin-like (1);	0.000000	0.31760	U	0.007116	T	0.61739	0.2371	L	0.60067	1.865	0.20074	N	0.999932	P;D	0.89917	0.945;1.0	P;D	0.80764	0.545;0.994	T	0.52403	-0.8580	10	0.87932	D	0	.	11.4541	0.50171	0.0:0.1816:0.8184:0.0	.	610;610	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	K	610	ENSP00000436042:E610K;ENSP00000367362:E610K	ENSP00000367362:E610K	E	+	1	0	PCDHA9	140210092	0.000000	0.05858	0.968000	0.41197	0.109000	0.19521	0.053000	0.14184	1.934000	0.56057	0.313000	0.20887	GAG	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372896.2		+	ENST00000532602.1	Missense_Mutation	SNP	5 : 140229908 - 140229908 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	676	141
WDTC1	23038	broad.mit.edu	37	1	27632740	27632740	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27632740C>T	ENST00000361771.3	+	16	2280	c.1897C>T	c.(1897-1899)Cgc>Tgc	p.R633C	WDTC1_ENST00000319394.3_Missense_Mutation_p.R634C			Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	634							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CAACCAGCGGCGCATGAATGC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	81	85			NA	NA	1		NA											NA				27632740		2203	4300	6503	SO:0001583	missense			AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784	23038	23038		DDB1 and CUL4 associated factors, WD repeat domain containing, Tetratricopeptide (TTC) repeat domain containing	29175	protein-coding gene	gene with protein product	adipose homolog (Drosophila), DDB1 and CUL4 associated factor 9				NA	12717455, 19238144	Standard	NM_015023	NM_015023	NA	Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000361771.3:c.1897C>T	1.37:g.27632740C>T	ENSP00000355317:p.Arg633Cys	NA	D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	37	CCDS296.1	.	.	.	.	.	.	.	.	.	.	C	32	5.145582	0.94603	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	T;T	0.67698	-0.28;-0.27	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.76884	0.4050	L	0.43923	1.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.78846	-0.2043	10	0.72032	D	0.01	.	17.3843	0.87412	0.0:1.0:0.0:0.0	.	634;633	Q8N5D0;Q8N5D0-4	WDTC1_HUMAN;.	C	634;633	ENSP00000317971:R634C;ENSP00000355317:R633C	ENSP00000317971:R634C	R	+	1	0	WDTC1	27505327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.278000	0.78587	2.654000	0.90174	0.655000	0.94253	CGC	WDTC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000012341.1		+	ENST00000361771.3	Missense_Mutation	SNP	1 : 27632740 - 27632740 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	435	90
ROR2	4920	broad.mit.edu	37	9	94486406	94486406	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:94486406C>T	ENST00000375708.3	-	9	2568	c.2370G>A	c.(2368-2370)aaG>aaA	p.K790K	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	790	Pro-rich.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGCCTTCTGCTTGGGCCCCA	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	56	54			NA	NA	9		NA											NA				94486406		2203	4300	6503	SO:0001819	synonymous_variant			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071	4920	4920		Immunoglobulin superfamily / I-set domain containing	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1	NA	1334494, 10700182	Standard		NM_004560	NA	Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2370G>A	9.37:g.94486406C>T		NA	Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	37	CCDS6691.1																																																																																			ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053040.1		-	ENST00000375708.3	Silent	SNP	9 : 94486406 - 94486406 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	592	97
JAKMIP2	9832	broad.mit.edu	37	5	146997591	146997591	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:146997591C>A	ENST00000265272.5	-	19	2696	c.2229G>T	c.(2227-2229)caG>caT	p.Q743H	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.Q701H|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.Q722H	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	743						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCCTCTTGCTGTTTTTCAC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	148	153			NA	NA	5		NA											NA				146997591		2203	4300	6503	SO:0001583	missense			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049	9832	9832			29067	protein-coding gene	gene with protein product		611197			NA	9628581	Standard	NM_014790	NM_001270941	NA	Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.2229G>T	5.37:g.146997591C>A	ENSP00000265272:p.Gln743His	NA	A4ZZA7|A8K5G5|O60302|Q548S1	37	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567737	0.65651	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.27104	1.7;1.69;1.7	5.61	1.85	0.25348	.	0.000000	0.85682	D	0.000000	T	0.28995	0.0720	M	0.65498	2.005	0.50313	D	0.999864	P;P;P;P	0.47677	0.899;0.899;0.899;0.899	P;P;P;B	0.44990	0.466;0.466;0.466;0.371	T	0.06041	-1.0849	10	0.66056	D	0.02	.	8.6976	0.34305	0.0:0.5699:0.0:0.4301	.	701;743;722;743	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	H	722;743;701;722	ENSP00000421398:Q722H;ENSP00000265272:Q743H;ENSP00000328989:Q701H	ENSP00000265272:Q743H	Q	-	3	2	JAKMIP2	146977784	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.161000	0.31773	0.415000	0.25817	0.563000	0.77884	CAG	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251941.1		-	ENST00000265272.5	Missense_Mutation	SNP	5 : 146997591 - 146997591 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	533	87
RS1	6247	broad.mit.edu	37	X	18662597	18662597	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18662597C>A	ENST00000379984.3	-	5	515	c.475G>T	c.(475-477)Gag>Tag	p.E159*	CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron|RS1_ENST00000476595.1_5'UTR	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	159	F5/8 type C.				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space		p.E159K(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					TTCAGGCGCTCATCGGTCCTG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	skin(1)											180	137	151			NA	NA	X		NA											NA				18662597		2203	4300	6503	SO:0001587	stop_gained			AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104	6247	6247			10457	protein-coding gene	gene with protein product		300839	retinoschisis (X-linked, juvenile) 1	RS	NA	9326935, 17804407	Standard		NM_000330	NA	Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.475G>T	X.37:g.18662597C>A	ENSP00000369320:p.Glu159*	NA		37	CCDS14187.1	.	.	.	.	.	.	.	.	.	.	c	36	5.821973	0.96989	.	.	ENSG00000102104	ENST00000379984	.	.	.	4.91	4.91	0.64330	.	0.136484	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	17.5225	0.87791	0.0:1.0:0.0:0.0	.	.	.	.	X	159	.	ENSP00000369320:E159X	E	-	1	0	RS1	18572518	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.275000	0.78548	2.410000	0.81850	0.591000	0.81541	GAG	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055949.1		-	ENST00000379984.3	Nonsense_Mutation	SNP	X : 18662597 - 18662597 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	484	131
TSHZ2	128553	broad.mit.edu	37	20	51871966	51871966	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:51871966C>A	ENST00000371497.5	+	2	2856	c.1969C>A	c.(1969-1971)Ctg>Atg	p.L657M	TSHZ2_ENST00000329613.6_Missense_Mutation_p.L654M|TSHZ2_ENST00000603338.2_Missense_Mutation_p.L654M	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	657					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GGAGGAGAAGCTGATGAAAGA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	55	55			NA	NA	20		NA											NA				51871966		2203	4300	6503	SO:0001583	missense			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463	128553	128553		Teashirt zinc fingers, Homeoboxes / ZF class, Zinc fingers, C2H2-type	13010	protein-coding gene	gene with protein product		614118	chromosome 20 open reading frame 17, zinc finger protein 218, teashirt family zinc finger 2	C20orf17, ZNF218	NA	9671742	Standard	NM_173485	NM_173485	NA	Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1969C>A	20.37:g.51871966C>A	ENSP00000360552:p.Leu657Met	NA	Q4VXM4|Q6N003|Q8N260	37	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	C	8.135	0.783870	0.16189	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.37915	1.17;1.17	3.64	3.64	0.41730	.	0.960519	0.08689	N	0.908319	T	0.24470	0.0593	N	0.08118	0	0.23204	N	0.998125	B	0.27732	0.187	B	0.33890	0.172	T	0.18967	-1.0320	10	0.48119	T	0.1	-0.1339	11.1201	0.48284	0.0:1.0:0.0:0.0	.	657	Q9NRE2	TSH2_HUMAN	M	657;654;183	ENSP00000360552:L657M;ENSP00000333114:L654M	ENSP00000333114:L654M	L	+	1	2	TSHZ2	51305373	0.755000	0.28372	0.926000	0.36857	0.890000	0.51754	1.467000	0.35321	2.324000	0.78689	0.643000	0.83706	CTG	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080398.6		+	ENST00000371497.5	Missense_Mutation	SNP	20 : 51871966 - 51871966 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	59
FBN1	2200	broad.mit.edu	37	15	48812972	48812972	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48812972C>T	ENST00000316623.5	-	10	1486	c.1031G>A	c.(1030-1032)cGc>cAc	p.R344H		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	344	TB 2.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GTTAGAGCAGCGCCCGTTTGT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	68	72			NA	NA	15		NA											NA				48812972		2197	4296	6493	SO:0001583	missense			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147	2200	2200			3603	protein-coding gene	gene with protein product	Marfan syndrome	134797	fibrillin 1 (Marfan syndrome)	FBN, MFS1, WMS	NA	10036187, 12525539	Standard		NM_000138	NA	Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.1031G>A	15.37:g.48812972C>T	ENSP00000325527:p.Arg344His	NA	B2RUU0|Q15972|Q75N87	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	35	5.569925	0.96540	.	.	ENSG00000166147	ENST00000316623	D	0.93426	-3.22	5.65	5.65	0.86999	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.85682	D	0.000000	D	0.96147	0.8744	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94643	0.7832	10	0.37606	T	0.19	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	344	P35555	FBN1_HUMAN	H	344	ENSP00000325527:R344H	ENSP00000325527:R344H	R	-	2	0	FBN1	46600264	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.939000	0.56591	2.941000	0.99782	0.655000	0.94253	CGC	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417355.1		-	ENST00000316623.5	Missense_Mutation	SNP	15 : 48812972 - 48812972 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	269	50
MEN1	4221	broad.mit.edu	37	11	64572567	64572567	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64572567G>A	ENST00000377316.2	-	8	1561				MEN1_ENST00000377321.1_Missense_Mutation_p.P395L|MEN1_ENST00000394374.2_Missense_Mutation_p.P435L|MEN1_ENST00000394376.1_Missense_Mutation_p.P435L|MEN1_ENST00000443283.1_Missense_Mutation_p.P435L|MEN1_ENST00000315422.4_Missense_Mutation_p.P430L|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000337652.1_Missense_Mutation_p.P435L|MEN1_ENST00000312049.6_Missense_Mutation_p.P430L|MEN1_ENST00000377313.1_Missense_Mutation_p.P435L|MEN1_ENST00000377326.3_Missense_Mutation_p.P430L			O00255	MEN1_HUMAN	multiple endocrine neoplasia I	NA					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						ATGCAGCACAGGCGTGGGACT	0.622		NA	D, Mis, N, F, S		parathyroid tumors, Pancreatic neuroendocrine tumors	parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(1;83 158 15500 18603 18803 29295)	yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	multiple endocrine neoplasia type 1 gene		E	0													90	77	82			NA	NA	11		NA											NA				64572567		2201	4297	6498	SO:0001627	intron_variant	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895	NA	4221			7010	protein-coding gene	gene with protein product	menin	613733			NA		Standard		NM_130799	NA	Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000377316.2:c.1186-279C>T	11.37:g.64572567G>A		NA	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	37		.	.	.	.	.	.	.	.	.	.	G	31	5.101372	0.94245	.	.	ENSG00000133895	ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313	D;D;D;D;D;D;D;D;D	0.99741	-6.6;-6.6;-6.6;-6.6;-6.6;-6.6;-6.6;-6.6;-6.6	4.01	4.01	0.46588	.	0.000000	0.85682	D	0.000000	D	0.99542	0.9836	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	D	0.97662	1.0161	10	0.87932	D	0	-17.8969	14.0916	0.64995	0.0:0.0:1.0:0.0	.	430;395;435	O00255-2;O00255-3;O00255	.;.;MEN1_HUMAN	L	395;430;430;430;435;435;435;435;435	ENSP00000366538:P395L;ENSP00000366543:P430L;ENSP00000308975:P430L;ENSP00000323747:P430L;ENSP00000337088:P435L;ENSP00000377901:P435L;ENSP00000377899:P435L;ENSP00000396940:P435L;ENSP00000366530:P435L	ENSP00000308975:P430L	P	-	2	0	MEN1	64329143	1.000000	0.71417	0.898000	0.35279	0.974000	0.67602	8.435000	0.90297	2.257000	0.74773	0.456000	0.33151	CCT	MEN1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000143886.6		-	ENST00000377316.2	Intron	SNP	11 : 64572567 - 64572567 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	223	51
DOCK4	9732	broad.mit.edu	37	7	111484842	111484842	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111484842G>A	ENST00000428084.1	-	25	2985	c.2713C>T	c.(2713-2715)Cgg>Tgg	p.R905W	DOCK4_ENST00000437633.1_Missense_Mutation_p.R905W			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	905					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AACTGGAACCGCATTGCTGAG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	158	159			NA	NA	7		NA											NA				111484842		2049	4201	6250	SO:0001583	missense				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512	9732	9732			19192	protein-coding gene	gene with protein product		607679			NA	12432077, 12628187	Standard	NM_014705	XM_006716188	NA	Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000428084.1:c.2713C>T	7.37:g.111484842G>A	ENSP00000410746:p.Arg905Trp	NA	O14584|O94824|Q8NB45	37		.	.	.	.	.	.	.	.	.	.	G	21.0	4.086388	0.76642	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	T;T	0.72505	-0.66;-0.66	6.12	2.96	0.34315	.	0.000000	0.85682	D	0.000000	T	0.81749	0.4888	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;P;P	0.68765	0.96;0.735;0.784	D	0.84261	0.0483	10	0.62326	D	0.03	.	16.8359	0.85957	0.0:0.0:0.5766:0.4234	.	905;905;905	Q149N5;Q8N1I0;Q8N1I0-2	.;DOCK4_HUMAN;.	W	893;905;905;893;904	ENSP00000410746:R905W;ENSP00000404179:R905W	ENSP00000345432:R893W	R	-	1	2	DOCK4	111272078	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	1.935000	0.40173	0.871000	0.35750	0.644000	0.83932	CGG	DOCK4-005	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000338943.2		-	ENST00000428084.1	Missense_Mutation	SNP	7 : 111484842 - 111484842 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	595	86
IGSF1	3547	broad.mit.edu	37	X	130415855	130415855	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:130415855A>G	ENST00000370904.1	-	14	2193	c.1283T>C	c.(1282-1284)aTc>aCc	p.I428T	IGSF1_ENST00000361420.3_Missense_Mutation_p.I437T|IGSF1_ENST00000370910.1_Missense_Mutation_p.I428T|IGSF1_ENST00000370903.3_Missense_Mutation_p.I437T			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	437	Ig-like C2-type 5.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CTGAAGGGTGATGGCCTTTCC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	74	79			NA	NA	X		NA											NA				130415855		2203	4300	6503	SO:0001583	missense			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255	3547	3547		Immunoglobulin superfamily / Immunoglobulin-like domain containing	5948	protein-coding gene	gene with protein product		300137			NA	9521868, 9729118	Standard		NM_001555	NA	Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000370904.1:c.1283T>C	X.37:g.130415855A>G	ENSP00000359941:p.Ile428Thr	NA	B5MEG2|O15070|Q9NTC8	37	CCDS55490.1	.	.	.	.	.	.	.	.	.	.	A	13.71	2.318945	0.41096	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.00776	5.71;5.71;5.71;5.71	4.21	3.04	0.35103	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.531595	0.17345	N	0.177610	T	0.01695	0.0054	L	0.28556	0.865	0.23144	N	0.998223	D;D	0.60160	0.981;0.987	D;D	0.72982	0.92;0.979	T	0.51756	-0.8665	10	0.87932	D	0	.	5.4452	0.16531	0.8738:0.0:0.1262:0.0	.	428;437	Q8N6C5-2;Q8N6C5	.;IGSF1_HUMAN	T	428;437;428;437	ENSP00000359947:I428T;ENSP00000355010:I437T;ENSP00000359941:I428T;ENSP00000359940:I437T	ENSP00000355010:I437T	I	-	2	0	IGSF1	130243536	0.999000	0.42202	0.605000	0.28930	0.663000	0.39108	2.733000	0.47360	0.761000	0.33130	0.481000	0.45027	ATC	IGSF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058286.1		-	ENST00000370904.1	Missense_Mutation	SNP	X : 130415855 - 130415855 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	233	62
AP000721.4	0	broad.mit.edu	37	11	63742167	63742167	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63742167G>T	ENST00000535431.1	+	1	76	c.15G>T	c.(13-15)acG>acT	p.T5T	COX8A_ENST00000314133.3_Silent_p.T5T						NA											NA						CCGTCCTGACGCCGCTGCTGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	28	27			NA	NA	11		NA											NA				63742167		2200	4294	6494	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000535431.1:c.15G>T	11.37:g.63742167G>T		NA		37																																																																																				AP000721.4-001	PUTATIVE	basic|appris_principal|readthrough_transcript	protein_coding	NA	protein_coding	OTTHUMT00000396923.2		+	ENST00000535431.1	Silent	SNP	11 : 63742167 - 63742167 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	109	17
NEB	4703	broad.mit.edu	37	2	152352790	152352790	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152352790C>T	ENST00000604864.1	-	171	24485	c.24486G>A	c.(24484-24486)tcG>tcA	p.S8162S	NEB_ENST00000172853.10_Splice_Site_p.S6306S|NEB_ENST00000498015.2_Intron|NEB_ENST00000397345.3_Splice_Site_p.S8162S|NEB_ENST00000397336.2_Splice_Site_p.S137S|RIF1_ENST00000457745.1_Intron|NEB_ENST00000427231.2_Splice_Site_p.S8162S|NEB_ENST00000603639.1_Splice_Site_p.S8162S|NEB_ENST00000409198.1_Splice_Site_p.S6306S|NEB_ENST00000509223.2_Splice_Site_p.S106S			P20929	NEBU_HUMAN	nebulin	6470					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.S8162S(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CGCCAAGTACCGAGCTAATAT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	endometrium(1)											90	71	77			NA	NA	2		NA											NA				152352790		1811	4074	5885	SO:0001630	splice_region_variant			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091	4703	4703			7720	protein-coding gene	gene with protein product	nemaline myopathy type 2	161650		NEM2	NA	10051637, 9359044	Standard	NM_004543	NM_001164507	NA	Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000604864.1:c.24486+1G>A	2.37:g.152352790C>T		NA	Q15346|Q53QQ2|Q53TG8	37	CCDS54408.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.78|13.78	2.339299|2.339299	0.41398|0.41398	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000421461|ENST00000397337	.|.	.|.	.|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	.|.	.|.	.|.	.|.	T|T	0.74168|0.74168	0.3681|0.3681	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.73307|0.73307	-0.4024|-0.4024	4|4	.|.	.|.	.|.	.|.	18.2919|18.2919	0.90133|0.90133	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	S|Q	308|296	.|.	.|.	G|R	-|-	1|2	0|0	NEB|NEB	152061036|152061036	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	6.995000|6.995000	0.76257|0.76257	2.482000|2.482000	0.83794|0.83794	0.655000|0.655000	0.94253|0.94253	GGT|CGG	NEB-018	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000469063.1	Silent	-	ENST00000604864.1	Splice_Site	SNP	2 : 152352790 - 152352790 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	140	32
DNAH9	1770	broad.mit.edu	37	17	11757669	11757669	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11757669G>A	ENST00000454412.2	+	50	9857	c.9857G>A	c.(9856-9858)cGc>cAc	p.R3286H	DNAH9_ENST00000262442.4_Missense_Mutation_p.R3286H			Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3286	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAACCCAAGCGCCAGGCACTG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	73	73			NA	NA	17		NA											NA				11757669		2203	4300	6503	SO:0001583	missense			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174	1770	1770		Axonemal dyneins	2953	protein-coding gene	gene with protein product		603330	dynein, axonemal, heavy polypeptide 17-like, dynein, axonemal, heavy polypeptide 9	DNAH17L	NA	8812413, 11247663	Standard	NM_001372	NM_001372	NA	Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000454412.2:c.9857G>A	17.37:g.11757669G>A	ENSP00000414874:p.Arg3286His	NA	O15064|O95494|Q9NQ28	37		.	.	.	.	.	.	.	.	.	.	G	19.36	3.813593	0.70912	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.80994	-1.44;-1.44	5.44	5.44	0.79542	Dynein heavy chain, coiled coil stalk (1);	0.239323	0.41097	D	0.000942	D	0.94248	0.8153	H	0.98407	4.225	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.95977	0.8974	10	0.87932	D	0	.	19.4586	0.94906	0.0:0.0:1.0:0.0	.	3286	Q9NYC9	DYH9_HUMAN	H	3286;3286;1868	ENSP00000262442:R3286H;ENSP00000414874:R3286H	ENSP00000262442:R3286H	R	+	2	0	DNAH9	11698394	1.000000	0.71417	1.000000	0.80357	0.481000	0.33189	7.384000	0.79751	2.828000	0.97474	0.655000	0.94253	CGC	DNAH9-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000252758.4		+	ENST00000454412.2	Missense_Mutation	SNP	17 : 11757669 - 11757669 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	633	127
C1S	716	broad.mit.edu	37	12	7173250	7173250	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7173250T>C	ENST00000402681.3	+	6	993	c.346T>C	c.(346-348)Tgg>Cgg	p.W116R	C1S_ENST00000328916.3_Missense_Mutation_p.W283R|C1S_ENST00000360817.5_Missense_Mutation_p.W283R|C1S_ENST00000406697.1_Missense_Mutation_p.W283R			P09871	C1S_HUMAN	complement component 1, s subcomponent	283	CUB 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	AAAAAAGGGCTGGAAACTTCG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(156;750 1943 12971 24779 31015)							NA				0													135	128	131			NA	NA	12		NA											NA				7173250		2203	4300	6503	SO:0001583	missense				CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	716	716	3.4.21.42	Complement system	1247	protein-coding gene	gene with protein product		120580			NA		Standard	NM_001734	NM_201442	NA	Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000402681.3:c.346T>C	12.37:g.7173250T>C	ENSP00000384171:p.Trp116Arg	NA	D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	37		.	.	.	.	.	.	.	.	.	.	T	20.2	3.955948	0.73902	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681;ENST00000542978	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	5.75	5.75	0.90469	CUB (5);	0.000000	0.39687	N	0.001290	T	0.53802	0.1819	M	0.89478	3.035	0.51233	D	0.999912	D	0.89917	1.0	D	0.91635	0.999	T	0.62978	-0.6739	10	0.87932	D	0	.	15.2367	0.73436	0.0:0.0:0.0:1.0	.	283	P09871	C1S_HUMAN	R	283;283;283;271;116;116	ENSP00000385035:W283R;ENSP00000328173:W283R;ENSP00000354057:W283R;ENSP00000384171:W116R;ENSP00000442298:W116R	ENSP00000328173:W283R	W	+	1	0	C1S	7043511	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	5.857000	0.69525	2.185000	0.69588	0.459000	0.35465	TGG	C1S-017	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000401825.1		+	ENST00000402681.3	Missense_Mutation	SNP	12 : 7173250 - 7173250 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	434	56
PRCP	5547	broad.mit.edu	37	11	82561517	82561517	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82561517C>A	ENST00000313010.3	-	4	636	c.442G>T	c.(442-444)Gaa>Taa	p.E148*	PRCP_ENST00000393399.2_Nonsense_Mutation_p.E169*|PRCP_ENST00000535099.1_Nonsense_Mutation_p.E43*	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	148					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AGAGCTTGTTCTGATGTCAGG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	120	120			NA	NA	11		NA											NA				82561517		2203	4300	6503	SO:0001587	stop_gained			BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509	5547	5547			9344	protein-coding gene	gene with protein product		176785			NA	8344943	Standard	NM_005040	NM_199418	NA	Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.442G>T	11.37:g.82561517C>A	ENSP00000317362:p.Glu148*	NA	B2R7B7|B5BU34	37	CCDS8262.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.176326	0.78564	.	.	ENSG00000137509	ENST00000313010;ENST00000393399;ENST00000535099;ENST00000531801;ENST00000534631;ENST00000527444;ENST00000531128;ENST00000534396;ENST00000529671;ENST00000528082;ENST00000532809;ENST00000533126	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.6616	20.3172	0.98658	0.0:1.0:0.0:0.0	.	.	.	.	X	148;169;43;43;43;43;43;43;107;43;94;43	.	.	E	-	1	0	PRCP	82239165	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.487000	0.81328	2.801000	0.96364	0.650000	0.86243	GAA	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391792.1		-	ENST00000313010.3	Nonsense_Mutation	SNP	11 : 82561517 - 82561517 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	654	115
SPG20	23111	broad.mit.edu	37	13	36878745	36878745	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36878745A>G	ENST00000451493.1	-	9	1975	c.1758T>C	c.(1756-1758)gcT>gcC	p.A586A	SPG20_ENST00000438666.2_Silent_p.A586A|SPG20_ENST00000355182.4_Silent_p.A586A|SPG20_ENST00000494062.2_Silent_p.A586A	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	586					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CATGGTGGGTAGCTTCTCCTG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	95	100			NA	NA	13		NA											NA				36878745		2203	4300	6503	SO:0001819	synonymous_variant			AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104	23111	23111			18514	protein-coding gene	gene with protein product	spartin	607111			NA	6022528, 12134148	Standard		NM_001142294	NA	Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.1758T>C	13.37:g.36878745A>G		NA	O60349|Q86Y67|Q9H1T2|Q9H1T3	37	CCDS9356.1																																																																																			SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044494.2		-	ENST00000451493.1	Silent	SNP	13 : 36878745 - 36878745 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	273	55
TMEM229B	161145	broad.mit.edu	37	14	67940506	67940506	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:67940506C>T	ENST00000557006.1	-	4	417	c.135G>A	c.(133-135)acG>acA	p.T45T	TMEM229B_ENST00000357461.2_Silent_p.T45T			Q8NBD8	T229B_HUMAN	transmembrane protein 229B	45						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CCCACACGCTCGTGACCCCAG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	39	46			NA	NA	14		NA											NA				67940506		2203	4300	6503	SO:0001819	synonymous_variant			AK090706	CCDS9783.1	14q23.3-q24.1	2009-09-22	2009-09-22	2009-09-22	ENSG00000198133	ENSG00000198133	161145	161145			20130	protein-coding gene	gene with protein product			chromosome 14 open reading frame 83	C14orf83	NA		Standard	NM_182526	NM_182526	NA	Approved	FLJ33387	uc001xjk.3	Q8NBD8		ENST00000557006.1:c.135G>A	14.37:g.67940506C>T		NA		37	CCDS9783.1																																																																																			TMEM229B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412718.2		-	ENST00000557006.1	Silent	SNP	14 : 67940506 - 67940506 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	159	23
GABRB3	2562	broad.mit.edu	37	15	26806166	26806166	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:26806166G>T	ENST00000541819.2	-	9	1263	c.1161C>A	c.(1159-1161)ttC>ttA	p.F387L	GABRB3_ENST00000400188.3_Missense_Mutation_p.F260L|GABRB3_ENST00000545868.1_Missense_Mutation_p.F246L|GABRB3_ENST00000299267.4_Missense_Mutation_p.F331L|GABRB3_ENST00000311550.5_Missense_Mutation_p.F331L			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	331					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CTCTTCCAAAGAAAATGTAGT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	145	143			NA	NA	15		NA											NA				26806166		2203	4300	6503	SO:0001583	missense				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206	2562	2562		GABA receptors, Ligand-gated ion channels / GABA(A) receptors	4083	protein-coding gene	gene with protein product	GABA(A) receptor, beta 3	137192			NA		Standard		NM_000814	NA	Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000541819.2:c.1161C>A	15.37:g.26806166G>T	ENSP00000442408:p.Phe387Leu	NA	Q14352|Q96FM5	37		.	.	.	.	.	.	.	.	.	.	G	22.0	4.226466	0.79576	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89	5.19	3.28	0.37604	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	T	0.81616	0.4860	L	0.55743	1.74	0.80722	D	1	P;P;P	0.46457	0.878;0.717;0.76	B;B;B	0.42245	0.381;0.187;0.378	T	0.82271	-0.0540	10	0.62326	D	0.03	.	11.1972	0.48719	0.1517:0.0:0.8483:0.0	.	387;331;331	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	L	331;387;331;260;246	ENSP00000308725:F331L;ENSP00000442408:F387L;ENSP00000299267:F331L;ENSP00000383049:F260L;ENSP00000439169:F246L	ENSP00000299267:F331L	F	-	3	2	GABRB3	24357259	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.896000	0.56266	1.174000	0.42811	0.655000	0.94253	TTC	GABRB3-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000414986.2		-	ENST00000541819.2	Missense_Mutation	SNP	15 : 26806166 - 26806166 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	548	89
DPRX	503834	broad.mit.edu	37	19	54137909	54137909	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54137909G>A	ENST00000376650.1	+	2	204	c.153G>A	c.(151-153)tcG>tcA	p.S51S		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	51						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		AAATGGCCTCGAAAATAGACA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	96	100			NA	NA	19		NA											NA				54137909		2203	4300	6503	SO:0001819	synonymous_variant				CCDS33103.1	19q13.42	2011-06-20			ENSG00000204595	ENSG00000204595	503834	503834		Homeoboxes / PRD class	32166	protein-coding gene	gene with protein product		611165			NA		Standard	NM_001012728	NM_001012728	NA	Approved		uc002qcf.1	A6NFQ7		ENST00000376650.1:c.153G>A	19.37:g.54137909G>A		NA		37	CCDS33103.1																																																																																			DPRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409880.1		+	ENST00000376650.1	Silent	SNP	19 : 54137909 - 54137909 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	468	62
DDX5	1655	broad.mit.edu	37	17	62496398	62496398	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62496398T>G	ENST00000578804.1	-	13	1654	c.1488A>C	c.(1486-1488)agA>agC	p.R496S	DDX5_ENST00000225792.5_Missense_Mutation_p.R496S|DDX5_ENST00000450599.2_Missense_Mutation_p.R417S|DDX5_ENST00000580026.1_5'UTR			P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	496					cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CCGCAGAGTATCTGTCCCGAC	0.423		NA	T	ETV4	prostate									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(22;406 813 4871 19580 40307)		Dom	yes		17	17q21	1655	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5		E	0													88	90	90			NA	NA	17		NA											NA				62496398		2203	4300	6503	SO:0001583	missense			AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654	1655	1655		DEAD-boxes	2746	protein-coding gene	gene with protein product		180630	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD), DEAD (Asp-Glu-Ala-Asp) box polypeptide 5	HLR1, G17P1	NA	22156369, 18698352	Standard	NM_004396	NM_004396	NA	Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000578804.1:c.1488A>C	17.37:g.62496398T>G	ENSP00000462885:p.Arg496Ser	NA	B5BU21|D3DU32|O75681|Q53Y61	37		.	.	.	.	.	.	.	.	.	.	T	6.597	0.478558	0.12521	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	.	.	.	5.45	5.45	0.79879	.	0.097898	0.64402	D	0.000001	T	0.47655	0.1457	L	0.47716	1.5	0.80722	D	1	B;B;B	0.32781	0.158;0.384;0.384	B;B;B	0.28305	0.018;0.088;0.088	T	0.47005	-0.9150	9	0.36615	T	0.2	-11.659	10.9731	0.47450	0.1394:0.0:0.0:0.8606	.	417;496;496	B4DLW8;B5BUE6;P17844	.;.;DDX5_HUMAN	S	496;426;485	.	ENSP00000225792:R485S	R	-	3	2	DDX5	59926860	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.107000	0.41844	2.190000	0.69967	0.482000	0.46254	AGA	DDX5-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000444032.1		-	ENST00000578804.1	Missense_Mutation	SNP	17 : 62496398 - 62496398 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	738	151
DACH1	1602	broad.mit.edu	37	13	72049848	72049848	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:72049848C>A	ENST00000305425.4	-	9	2432	c.2010G>T	c.(2008-2010)agG>agT	p.R670S	DACH1_ENST00000354591.4_Missense_Mutation_p.R468S|DACH1_ENST00000313174.7_Missense_Mutation_p.R522S|DACH1_ENST00000359684.2_Missense_Mutation_p.R722S	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	720	DACHbox-C.|Interaction with SIN3A (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CATTTAAGACCCTGAGACTAT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													313	296	302			NA	NA	13		NA											NA				72049848		1908	4134	6042	SO:0001583	missense			AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644	1602	1602			2663	protein-coding gene	gene with protein product		603803	dachshund homolog (Drosophila), dachshund homolog 1 (Drosophila)	DACH	NA	9933575, 10395809, 15057823	Standard	NM_004392	NM_004392	NA	Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000305425.4:c.2010G>T	13.37:g.72049848C>A	ENSP00000304994:p.Arg670Ser	NA	O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	37	CCDS41899.1	.	.	.	.	.	.	.	.	.	.	c	14.86	2.660850	0.47572	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000354591;ENST00000359684;ENST00000377826	T;T;T;T	0.35236	1.34;1.4;1.39;1.32	5.1	2.45	0.29901	.	0.000000	0.85682	D	0.000000	T	0.49983	0.1589	L	0.54323	1.7	0.24229	N	0.995409	D;D;B	0.65815	0.989;0.995;0.383	D;D;P	0.76575	0.985;0.988;0.542	T	0.35301	-0.9794	10	0.66056	D	0.02	-12.8608	8.7276	0.34478	0.0:0.708:0.0:0.292	.	466;520;668	Q9UI36-4;Q9UI36-3;Q9UI36-2	.;.;.	S	670;522;468;722;722	ENSP00000304994:R670S;ENSP00000318506:R522S;ENSP00000346604:R468S;ENSP00000352712:R722S	ENSP00000304994:R670S	R	-	3	2	DACH1	70947849	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.668000	0.25127	0.273000	0.22049	-0.119000	0.15052	AGG	DACH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045239.1		-	ENST00000305425.4	Missense_Mutation	SNP	13 : 72049848 - 72049848 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	998	225
EMX2	2018	broad.mit.edu	37	10	119302963	119302963	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:119302963G>A	ENST00000553456.3	+	1	1009	c.185G>A	c.(184-186)gGc>gAc	p.G62D	EMX2_ENST00000442245.4_Missense_Mutation_p.G62D|EMX2OS_ENST00000551288.1_RNA	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	62						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		gccggTAGGGGCGTCTACTCC	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													6	8	7			NA	NA	10		NA											NA				119302963		2097	4114	6211	SO:0001583	missense			AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370	2018	2018		Homeoboxes / ANTP class : NKL subclass	3341	protein-coding gene	gene with protein product		600035	empty spiracles homolog 2 (Drosophila)		NA	7959790	Standard	NM_004098	NM_004098	NA	Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.185G>A	10.37:g.119302963G>A	ENSP00000450962:p.Gly62Asp	NA	Q96NN8|Q9BQF4	37	CCDS7601.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.826475	0.32329	.	.	ENSG00000170370;ENSG00000258614	ENST00000369201;ENST00000553456	D	0.91843	-2.92	5.91	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.82440	0.5037	N	0.08118	0	0.80722	D	1	B;B	0.33413	0.049;0.411	B;B	0.26517	0.04;0.07	T	0.81788	-0.0772	10	0.39692	T	0.17	-16.1459	15.1126	0.72372	0.0676:0.0:0.9324:0.0	.	62;62	G3V305;Q04743	.;EMX2_HUMAN	D	62	ENSP00000450962:G62D	ENSP00000358202:G62D	G	+	2	0	AC005871.1;EMX2	119292953	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.389000	0.66255	1.506000	0.48736	0.643000	0.83706	GGC	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050569.4		+	ENST00000553456.3	Missense_Mutation	SNP	10 : 119302963 - 119302963 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	183	40
SLC25A25	114789	broad.mit.edu	37	9	130865959	130865959	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130865959G>A	ENST00000373066.5	+	6	989		c.e6-1		SLC25A25_ENST00000373068.2_Splice_Site|SLC25A25_ENST00000433501.1_Splice_Site|SLC25A25_ENST00000373064.5_Splice_Site|SLC25A25_ENST00000432073.2_Splice_Site|SLC25A25_ENST00000373069.5_Splice_Site	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	NA					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						TTTCCTCACAGATCTTTGATG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	83	84			NA	NA	9		NA											NA				130865959		2203	4300	6503	SO:0001630	splice_region_variant			AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339	114789	114789		Solute carriers, EF-hand domain containing	20663	protein-coding gene	gene with protein product		608745			NA	15123600	Standard	NM_052901	NM_052901	NA	Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373066.5:c.583-1G>A	9.37:g.130865959G>A		NA	Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	37	CCDS59146.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418790	0.83559	.	.	ENSG00000148339	ENST00000373068;ENST00000373069;ENST00000432073;ENST00000373066;ENST00000373064;ENST00000433501	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8353	0.92159	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC25A25	129905780	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	9.869000	0.99810	2.688000	0.91661	0.655000	0.94253	.	SLC25A25-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054406.1	Intron	+	ENST00000373066.5	Splice_Site	SNP	9 : 130865959 - 130865959 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	373	62
ZDHHC8	29801	broad.mit.edu	37	22	20130691	20130691	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20130691C>T	ENST00000334554.7	+	10	1679	c.1538C>T	c.(1537-1539)gCa>gTa	p.A513V	ZDHHC8_ENST00000405930.3_Missense_Mutation_p.A513V|ZDHHC8_ENST00000320602.7_Missense_Mutation_p.A421V	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	513						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CATCCTGGGGCAACGGGCGAC	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	28	27			NA	NA	22		NA											NA				20130691		2198	4287	6485	SO:0001583	missense			AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904	29801	29801		Zinc fingers, DHHC-type	18474	protein-coding gene	gene with protein product		608784			NA	10574462, 15184899	Standard	NM_013373	NM_013373	NA	Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.1538C>T	22.37:g.20130691C>T	ENSP00000334490:p.Ala513Val	NA	Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	37	CCDS13776.1	.	.	.	.	.	.	.	.	.	.	.	9.033	0.987662	0.18966	.	.	ENSG00000099904	ENST00000334554;ENST00000320602;ENST00000405930	T;T;T	0.72282	1.37;-0.64;1.34	4.79	-1.64	0.08318	.	2.240760	0.01898	N	0.039000	T	0.55210	0.1906	L	0.29908	0.895	0.19575	N	0.999962	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.12837	0.002;0.008;0.001	T	0.25882	-1.0119	10	0.17832	T	0.49	.	4.9567	0.14044	0.0:0.233:0.1772:0.5898	.	421;513;513	Q9ULC8-2;Q9ULC8-3;Q9ULC8	.;.;ZDHC8_HUMAN	V	513;421;513	ENSP00000334490:A513V;ENSP00000317804:A421V;ENSP00000384716:A513V	ENSP00000317804:A421V	A	+	2	0	ZDHHC8	18510691	0.000000	0.05858	0.025000	0.17156	0.312000	0.27988	-0.092000	0.11129	0.120000	0.18254	0.491000	0.48974	GCA	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318564.1		+	ENST00000334554.7	Missense_Mutation	SNP	22 : 20130691 - 20130691 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	469	85
CHML	1122	broad.mit.edu	37	1	241797861	241797861	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241797861C>T	ENST00000366553.1	-	1	1371	c.1208G>A	c.(1207-1209)cGt>cAt	p.R403H	OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	403					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TACTTTATGACGAAGACAATA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	73	71			NA	NA	1		NA											NA				241797861		2201	4298	6499	SO:0001583	missense			X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668	1122	1122			1941	protein-coding gene	gene with protein product		118825			NA	7981670	Standard	NM_001821	NM_001821	NA	Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.1208G>A	1.37:g.241797861C>T	ENSP00000355511:p.Arg403His	NA	B2RAB9|Q17RE0|Q9H1Y4	37	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815051	0.32053	.	.	ENSG00000203668	ENST00000366553	T	0.59772	0.24	4.4	3.45	0.39498	.	0.286793	0.38492	U	0.001671	T	0.41949	0.1181	.	.	.	0.42068	D	0.991193	B	0.28178	0.202	B	0.22880	0.042	T	0.36407	-0.9749	9	0.41790	T	0.15	-4.2563	7.1729	0.25728	0.0:0.8721:0.0:0.1279	.	403	P26374	RAE2_HUMAN	H	403	ENSP00000355511:R403H	ENSP00000355511:R403H	R	-	2	0	CHML	239864484	0.994000	0.37717	0.999000	0.59377	0.995000	0.86356	1.321000	0.33678	1.377000	0.46286	0.655000	0.94253	CGT	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095712.1		-	ENST00000366553.1	Missense_Mutation	SNP	1 : 241797861 - 241797861 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	436	69
UTP14C	9724	broad.mit.edu	37	13	52603460	52603460	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52603460C>T	ENST00000521776.2	+	2	1253	c.520C>T	c.(520-522)Ctc>Ttc	p.L174F	ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	174					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		TGAACATGCGCTCAGTGGCTG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	64	63			NA	NA	13		NA											NA				52603460		2203	4300	6503	SO:0001583	missense			D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797	9724	9724			20321	protein-coding gene	gene with protein product		608969	KIAA0266	KIAA0266	NA	9039502, 16354793	Standard	NM_021645	NM_021645	NA	Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.520C>T	13.37:g.52603460C>T	ENSP00000428619:p.Leu174Phe	NA	Q5FWG3|Q92555	37	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	C	2.359	-0.346969	0.05208	.	.	ENSG00000253797	ENST00000521776	T	0.18810	2.19	2.46	0.519	0.17035	.	0.328689	0.30365	N	0.009795	T	0.08133	0.0203	N	0.14661	0.345	0.09310	N	1	B	0.16802	0.019	B	0.16289	0.015	T	0.23261	-1.0193	10	0.20519	T	0.43	-3.1721	1.2538	0.01988	0.2225:0.4149:0.2187:0.1439	.	174	Q5TAP6	UT14C_HUMAN	F	174	ENSP00000428619:L174F	ENSP00000428619:L174F	L	+	1	0	UTP14C	51501461	0.000000	0.05858	0.741000	0.31004	0.880000	0.50808	-0.181000	0.09740	-0.036000	0.13669	0.448000	0.29417	CTC	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045049.2		+	ENST00000521776.2	Missense_Mutation	SNP	13 : 52603460 - 52603460 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	443	74
RALGPS2	55103	broad.mit.edu	37	1	178858792	178858792	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178858792C>A	ENST00000367635.3	+	14	1546	c.1208C>A	c.(1207-1209)tCt>tAt	p.S403Y	RALGPS2_ENST00000367634.2_Missense_Mutation_p.S403Y|RALGPS2_ENST00000477383.1_3'UTR	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	403					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AGCGATGGTTCTGAACTAAGT	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	139	135			NA	NA	1		NA											NA				178858792		2203	4300	6503	SO:0001583	missense			AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191	55103	55103		Pleckstrin homology (PH) domain containing	30279	protein-coding gene	gene with protein product					NA	10747847, 12102558	Standard	NM_152663	NM_152663	NA	Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.1208C>A	1.37:g.178858792C>A	ENSP00000356607:p.Ser403Tyr	NA	Q5T5Z1|Q5VZ67|Q9NW78	37	CCDS1325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.5|23.5	4.428166|4.428166	0.83667|0.83667	.|.	.|.	ENSG00000116191|ENSG00000116191	ENST00000367632|ENST00000367635;ENST00000367634;ENST00000324778;ENST00000535251	.|T;T;T	.|0.28454	.|1.73;1.79;1.61	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55924|0.55924	0.1951|0.1951	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.997;0.999	.|P;D	.|0.72982	.|0.898;0.979	T|T	0.56866|0.56866	-0.7908|-0.7908	5|10	.|0.62326	.|D	.|0.03	.|.	18.8902|18.8902	0.92397|0.92397	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|403;403	.|B7Z7B1;Q86X27	.|.;RGPS2_HUMAN	M|Y	20|403;403;368;52	.|ENSP00000356607:S403Y;ENSP00000356606:S403Y;ENSP00000313613:S368Y	.|ENSP00000313613:S368Y	L|S	+|+	1|2	2|0	RALGPS2|RALGPS2	177125415|177125415	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	7.479000|7.479000	0.81095|0.81095	2.558000|2.558000	0.86282|0.86282	0.460000|0.460000	0.39030|0.39030	CTG|TCT	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084926.2		+	ENST00000367635.3	Missense_Mutation	SNP	1 : 178858792 - 178858792 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	706	175
ING5	84289	broad.mit.edu	37	2	242650891	242650891	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242650891C>T	ENST00000313552.6	+	4	402	c.376C>T	c.(376-378)Cga>Tga	p.R126*	ING5_ENST00000406941.1_Nonsense_Mutation_p.R126*|ING5_ENST00000482774.1_3'UTR	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	126					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		CTCCGGAGGGCGAGGGTTAAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	135	130			NA	NA	2		NA											NA				242650891		2203	4296	6499	SO:0001587	stop_gained			AF189286	CCDS33425.1	2q37.3	2013-01-28			ENSG00000168395	ENSG00000168395	84289	84289		Zinc fingers, PHD-type	19421	protein-coding gene	gene with protein product		608525			NA	12750254	Standard	NM_032329	NM_032329	NA	Approved	FLJ23842, p28ING5	uc002wcd.3	Q8WYH8	OTTHUMG00000151501	ENST00000313552.6:c.376C>T	2.37:g.242650891C>T	ENSP00000322142:p.Arg126*	NA	A8K1P3|Q9BS30	37	CCDS33425.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.009933	0.75046	.	.	ENSG00000168395	ENST00000313552;ENST00000406941	.	.	.	5.83	3.83	0.44106	.	0.118397	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-17.5543	16.4987	0.84252	0.2498:0.7502:0.0:0.0	.	.	.	.	X	126	.	ENSP00000322142:R126X	R	+	1	2	ING5	242299564	0.956000	0.32656	0.056000	0.19401	0.828000	0.46876	2.195000	0.42677	1.460000	0.47911	-0.181000	0.13052	CGA	ING5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322901.3		+	ENST00000313552.6	Nonsense_Mutation	SNP	2 : 242650891 - 242650891 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	622	130
RAB7A	7879	broad.mit.edu	37	3	128514202	128514202	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128514202G>A	ENST00000482525.1	+	2	167		c.e2-1		RAB7A_ENST00000265062.3_Splice_Site|RAB7A_ENST00000485280.1_5'UTR			P51149	RAB7A_HUMAN	RAB7A, member RAS oncogene family	NA					endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction	Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(114;0.231)		TCCCCCTTTAGTTTGAAGGAT	0.453		NA									OREG0015781	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	125	128			NA	NA	3		NA											NA				128514202		2203	4300	6503	SO:0001630	splice_region_variant			X93499	CCDS3052.1	3q21	2014-09-17	2007-01-15	2007-01-15	ENSG00000075785	ENSG00000075785	7879	7879		RAB, member RAS oncogene	9788	protein-coding gene	gene with protein product		602298	RAB7, member RAS oncogene family	RAB7	NA	9126495, 9428630	Standard		NM_004637	NA	Approved		uc003eks.1	P51149	OTTHUMG00000159812	ENST00000482525.1:c.-8-1G>A	3.37:g.128514202G>A		1565	A8K3V6|Q9NWJ0|Q9UPB0	37																																																																																				RAB7A-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000357482.1	Intron	+	ENST00000482525.1	Splice_Site	SNP	3 : 128514202 - 128514202 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	73
ABCC3	8714	broad.mit.edu	37	17	48746712	48746712	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48746712G>T	ENST00000285238.8	+	17	2144		c.e17-1			NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	NA					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCTGTGGCCAGGGCTCCGTGG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	56	56			NA	NA	17		NA											NA				48746712		2203	4300	6503	SO:0001630	splice_region_variant			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846	8714	8714		ATP binding cassette transporters / subfamily C	54	protein-coding gene	gene with protein product	canalicular multispecific organic anion transporter 2	604323			NA	8894702, 9827529	Standard	NM_020038	NM_003786	NA	Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.2065-1G>T	17.37:g.48746712G>T		NA	B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	37	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806506	0.31961	.	.	ENSG00000108846	ENST00000285238	.	.	.	4.35	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4367	0.87554	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCC3	46101711	1.000000	0.71417	1.000000	0.80357	0.133000	0.20885	9.657000	0.98554	2.432000	0.82394	0.305000	0.20034	.	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368083.2	Intron	+	ENST00000285238.8	Splice_Site	SNP	17 : 48746712 - 48746712 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	343	58
SATL1	340562	broad.mit.edu	37	X	84363222	84363222	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:84363222T>C	ENST00000509231.1	-	1	832	c.753A>G	c.(751-753)tcA>tcG	p.S251S	SATL1_ENST00000332921.5_Silent_p.S64S|SATL1_ENST00000395409.3_Silent_p.S64S			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	64	Gln-rich.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CTGATAAACTTGATTGGTTTG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													370	289	316			NA	NA	X		NA											NA				84363222		2203	4300	6503	SO:0001819	synonymous_variant			BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788	340562	340562			27992	protein-coding gene	gene with protein product					NA	12477932	Standard	XM_291339	NM_001012980	NA	Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000509231.1:c.753A>G	X.37:g.84363222T>C		NA	A0AVK7|Q5H8V9	37	CCDS35343.2																																																																																			SATL1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057386.2		-	ENST00000509231.1	Silent	SNP	X : 84363222 - 84363222 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	653	172
ZIC2	7546	broad.mit.edu	37	13	100637318	100637318	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:100637318C>T	ENST00000376335.3	+	2	1487	c.1194C>T	c.(1192-1194)tgC>tgT	p.C398C	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	398					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCAAGATGTGCGACAAGTCCT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(97;119 1522 31925 44771 48764)							NA				0													136	113	121			NA	NA	13		NA											NA				100637318		2203	4300	6503	SO:0001819	synonymous_variant			AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355	7546	7546		Zinc fingers, C2H2-type	12873	protein-coding gene	gene with protein product	Zinc finger protein of the cerebellum 2	603073	Zic family member 2 (odd-paired Drosophila homolog), Zic family member 2 (odd-paired homolog, Drosophila)		NA	9771712	Standard	NM_007129	NM_007129	NA	Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.1194C>T	13.37:g.100637318C>T		NA	Q5VYA9|Q9H309	37	CCDS9495.1																																																																																			ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045618.2		+	ENST00000376335.3	Silent	SNP	13 : 100637318 - 100637318 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	593	123
POMGNT1	55624	broad.mit.edu	37	1	46657980	46657980	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46657980C>A	ENST00000371992.1	-	16	2063	c.1413G>T	c.(1411-1413)aaG>aaT	p.K471N	POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000371986.3_Splice_Site_p.K471N|POMGNT1_ENST00000371984.3_Splice_Site_p.K471N|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000535522.1_Splice_Site_p.K449N	NM_001243766.1	NP_001230695	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	471					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					TGACAGTTACCTTTTCCGGTG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	87	88			NA	NA	1		NA											NA				46657980		2203	4300	6503	SO:0001630	splice_region_variant				CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	55624	55624	2.4.1.-	Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases	19139	protein-coding gene	gene with protein product	protein O-mannose beta-1,2-N-acetylglucosaminyltransferase	606822	muscle-eye-brain disease, protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase	MEB	NA	11742540, 12788071	Standard	NM_017739	NM_017739	NA	Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371992.1:c.1413+1G>T	1.37:g.46657980C>A		NA	D3DQ16|Q5VST2|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	37	CCDS57995.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.015422	0.75161	.	.	ENSG00000085998	ENST00000371984;ENST00000371992;ENST00000535522;ENST00000371986	T;T;T;T	0.33654	1.43;1.4;1.43;1.4	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.45074	0.1324	L	0.49350	1.555	0.80722	D	1	D;D;D;D;P;D	0.54397	0.958;0.966;0.966;0.966;0.829;0.966	P;P;P;P;P;P	0.53313	0.547;0.723;0.676;0.676;0.583;0.676	T	0.15435	-1.0437	9	.	.	.	-24.6181	13.6145	0.62099	0.0:0.9294:0.0:0.0706	.	449;449;449;471;328;471	F5H827;B7Z7Q4;B7ZAT4;Q5VST3;B7Z7F2;Q8WZA1	.;.;.;.;.;PMGT1_HUMAN	N	471;471;449;471	ENSP00000361052:K471N;ENSP00000361060:K471N;ENSP00000443767:K449N;ENSP00000361054:K471N	.	K	-	3	2	POMGNT1	46430567	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	4.655000	0.61476	2.843000	0.97960	0.585000	0.79938	AAG	POMGNT1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000020147.1	Missense_Mutation	-	ENST00000371992.1	Splice_Site	SNP	1 : 46657980 - 46657980 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	342	42
SH3TC1	54436	broad.mit.edu	37	4	8229700	8229700	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8229700G>T	ENST00000245105.3	+	12	2346	c.2279G>T	c.(2278-2280)aGc>aTc	p.S760I	SH3TC1_ENST00000539824.1_Missense_Mutation_p.S684I	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	760							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CAGCCCCACAGCCTCCCTGCC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(145;2298 2623 35616 37297)							NA				0													35	33	34			NA	NA	4		NA											NA				8229700		2202	4299	6501	SO:0001583	missense			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089	54436	54436		Tetratricopeptide (TTC) repeat domain containing	26009	protein-coding gene	gene with protein product					NA		Standard	NM_018986	NM_018986	NA	Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.2279G>T	4.37:g.8229700G>T	ENSP00000245105:p.Ser760Ile	NA	Q4W5G5	37	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	G	1.898	-0.453765	0.04540	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.76316	-0.36;-1.01	4.37	1.16	0.20824	.	1.375830	0.04225	N	0.334160	T	0.62636	0.2444	N	0.20986	0.625	0.09310	N	1	B	0.12013	0.005	B	0.16722	0.016	T	0.45220	-0.9276	10	0.31617	T	0.26	-5.0404	1.8949	0.03255	0.1975:0.1081:0.4473:0.247	.	760	Q8TE82	S3TC1_HUMAN	I	498;760;684;589	ENSP00000245105:S760I;ENSP00000441045:S684I	ENSP00000245105:S760I	S	+	2	0	SH3TC1	8280600	0.000000	0.05858	0.002000	0.10522	0.037000	0.13140	0.102000	0.15272	0.302000	0.22762	0.462000	0.41574	AGC	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206991.2		+	ENST00000245105.3	Missense_Mutation	SNP	4 : 8229700 - 8229700 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	66
NCAM1	4684	broad.mit.edu	37	11	113102908	113102908	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113102908G>T	ENST00000533760.1	+	10	1472	c.873G>T	c.(871-873)caG>caT	p.Q291H	NCAM1_ENST00000401611.2_Missense_Mutation_p.Q418H|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000316851.7_Missense_Mutation_p.Q409H	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	419	Ig-like C2-type 3.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CAAAGCTACAGGGCCCTGTGG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	47	47			NA	NA	11		NA											NA				113102908		1931	4146	6077	SO:0001583	missense				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294	4684	4684		CD molecules, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	7656	protein-coding gene	gene with protein product		116930			NA		Standard	NM_000615	NM_000615	NA	Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.873G>T	11.37:g.113102908G>T	ENSP00000473281:p.Gln291His	NA	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	37		.	.	.	.	.	.	.	.	.	.	G	9.298	1.052332	0.19827	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.68903	-0.36;-0.16	5.51	1.58	0.23477	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.245525	0.33712	U	0.004635	T	0.53948	0.1828	.	.	.	0.80722	D	1	B;B;B;B	0.20887	0.049;0.007;0.005;0.002	B;B;B;B	0.13407	0.007;0.004;0.007;0.009	T	0.45716	-0.9242	9	0.49607	T	0.09	-28.7809	8.8057	0.34936	0.3503:0.0:0.6497:0.0	.	419;409;419;409	P13591-5;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	H	291;418;409	ENSP00000384055:Q418H;ENSP00000318472:Q409H	ENSP00000318472:Q409H	Q	+	3	2	NCAM1	112608118	1.000000	0.71417	0.999000	0.59377	0.569000	0.35902	2.707000	0.47143	0.111000	0.17947	-0.384000	0.06662	CAG	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000394068.2		+	ENST00000533760.1	Missense_Mutation	SNP	11 : 113102908 - 113102908 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	178	19
PTPN6	5777	broad.mit.edu	37	12	7066930	7066930	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7066930G>T	ENST00000318974.9	+	10	1432	c.1188G>T	c.(1186-1188)caG>caT	p.Q396H	PTPN6_ENST00000399448.1_Missense_Mutation_p.Q398H|PTPN6_ENST00000456013.1_Missense_Mutation_p.Q396H|PTPN6_ENST00000447931.2_Missense_Mutation_p.Q357H	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	396	Tyrosine-protein phosphatase.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						GTACCTTACAGGTCTCCCCGC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	84	83			NA	NA	12		NA											NA				7066930		2039	4166	6205	SO:0001583	missense				CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679	5777	5777		Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor, SH2 domain containing	9658	protein-coding gene	gene with protein product		176883			NA	1639416	Standard	NM_002831	NM_080548	NA	Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.1188G>T	12.37:g.7066930G>T	ENSP00000326010:p.Gln396His	NA	A8K306|Q969V8	37	CCDS44820.1	.	.	.	.	.	.	.	.	.	.	G	4.359	0.066189	0.08388	.	.	ENSG00000111679	ENST00000399448;ENST00000447931;ENST00000318974;ENST00000456013	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	5.08	3.24	0.37175	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.505646	0.20813	N	0.085210	T	0.72179	0.3428	N	0.21282	0.65	0.24333	N	0.994999	B;B;B;B;B	0.21225	0.053;0.002;0.009;0.001;0.003	B;B;B;B;B	0.20184	0.028;0.007;0.011;0.013;0.011	T	0.59096	-0.7518	10	0.42905	T	0.14	.	11.9817	0.53123	0.0:0.3944:0.4492:0.1564	.	384;357;396;396;398	B4DPS0;P29350-2;G3V0F8;P29350;Q53XS4	.;.;.;PTN6_HUMAN;.	H	398;357;396;396	ENSP00000382376:Q398H;ENSP00000415979:Q357H;ENSP00000326010:Q396H;ENSP00000391592:Q396H	ENSP00000326010:Q396H	Q	+	3	2	PTPN6	6937191	0.699000	0.27786	0.827000	0.32855	0.302000	0.27658	0.183000	0.16919	0.171000	0.19730	-1.268000	0.01426	CAG	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400023.1		+	ENST00000318974.9	Missense_Mutation	SNP	12 : 7066930 - 7066930 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	246	62
DSC3	1825	broad.mit.edu	37	18	28588089	28588089	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28588089G>A	ENST00000360428.4	-	11	1636	c.1556C>T	c.(1555-1557)aCc>aTc	p.T519I	DSC3_ENST00000434452.1_Missense_Mutation_p.T519I	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	519	Cadherin 4.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TTCATCAATGGTGATCCAACC	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	34	34			NA	NA	18		NA											NA				28588089		2203	4295	6498	SO:0001583	missense			X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762	1825	1825		Cadherins / Major cadherins	3037	protein-coding gene	gene with protein product		600271		DSC4	NA	7774948, 8486729	Standard	NM_001941, NM_024423	NM_001941	NA	Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.1556C>T	18.37:g.28588089G>A	ENSP00000353608:p.Thr519Ile	NA	A6NN35|Q14200|Q9HAZ9	37	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455834	0.26161	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.54675	0.56;0.56	5.08	-1.53	0.08611	Cadherin (4);Cadherin-like (1);	0.782790	0.10416	N	0.677346	T	0.57592	0.2064	M	0.79123	2.44	0.24325	N	0.995025	B;B	0.29716	0.255;0.203	B;B	0.39935	0.314;0.135	T	0.58504	-0.7625	10	0.46703	T	0.11	.	10.5402	0.45029	0.0:0.4184:0.1923:0.3893	.	519;519	Q14574;Q14574-2	DSC3_HUMAN;.	I	519	ENSP00000353608:T519I;ENSP00000392068:T519I	ENSP00000353608:T519I	T	-	2	0	DSC3	26842087	0.041000	0.20044	0.411000	0.26484	0.703000	0.40648	-0.030000	0.12308	-0.418000	0.07450	-0.175000	0.13238	ACC	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447384.1		-	ENST00000360428.4	Missense_Mutation	SNP	18 : 28588089 - 28588089 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	104	23
METTL13	51603	broad.mit.edu	37	1	171759640	171759640	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171759640C>T	ENST00000361735.3	+	5	1624	c.1358C>T	c.(1357-1359)gCg>gTg	p.A453V	METTL13_ENST00000466643.1_Intron|METTL13_ENST00000367737.5_Missense_Mutation_p.A297V|METTL13_ENST00000362019.3_Missense_Mutation_p.A367V|METTL13_ENST00000458517.1_Missense_Mutation_p.A452V	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN	methyltransferase like 13	453							methyltransferase activity|protein binding			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						CCTGCTGATGCGGAGGACCTC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	93	95			NA	NA	1		NA											NA				171759640		2203	4300	6503	SO:0001583	missense			AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165	51603	51603			24248	protein-coding gene	gene with protein product			KIAA0859	KIAA0859	NA	10810093, 10048485	Standard	NM_014955	NM_001007239	NA	Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1358C>T	1.37:g.171759640C>T	ENSP00000354920:p.Ala453Val	NA	A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	37	CCDS1299.1	.	.	.	.	.	.	.	.	.	.	C	5.713	0.316117	0.10789	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735	T;T;T;T	0.09538	2.97;2.97;2.97;2.97	5.91	3.01	0.34805	.	0.690282	0.15326	N	0.268278	T	0.00936	0.0031	N	0.01352	-0.895	0.09310	N	1	B;B;B	0.18863	0.031;0.001;0.031	B;B;B	0.16289	0.01;0.003;0.015	T	0.47898	-0.9081	10	0.23302	T	0.38	-17.3518	6.4455	0.21873	0.0:0.6607:0.1314:0.2079	.	452;297;453	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	V	452;367;297;453	ENSP00000401955:A452V;ENSP00000355393:A367V;ENSP00000356711:A297V;ENSP00000354920:A453V	ENSP00000354920:A453V	A	+	2	0	METTL13	170026263	0.000000	0.05858	0.000000	0.03702	0.222000	0.24845	0.257000	0.18369	0.397000	0.25310	-0.122000	0.15005	GCG	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084528.5		+	ENST00000361735.3	Missense_Mutation	SNP	1 : 171759640 - 171759640 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	649	156
SEC31A	22872	broad.mit.edu	37	4	83784500	83784500	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83784500C>A	ENST00000395310.2	-	12	1662	c.1480G>T	c.(1480-1482)Gga>Tga	p.G494*	SEC31A_ENST00000348405.4_Nonsense_Mutation_p.G494*|SEC31A_ENST00000509142.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000443462.2_Nonsense_Mutation_p.G489*|SEC31A_ENST00000513858.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000505984.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000311785.7_Nonsense_Mutation_p.G494*|SEC31A_ENST00000326950.5_Nonsense_Mutation_p.G494*|SEC31A_ENST00000508479.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000355196.2_Nonsense_Mutation_p.G494*|SEC31A_ENST00000505472.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000432794.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000500777.2_Nonsense_Mutation_p.G494*|SEC31A_ENST00000508502.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000448323.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000264405.5_Nonsense_Mutation_p.G266*	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	494					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TTTCTGTATCCTAGAAGTTCA	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	101	100			NA	NA	4		NA											NA				83784500		2202	4296	6498	SO:0001587	stop_gained			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674	22872	22872		WD repeat domain containing	17052	protein-coding gene	gene with protein product		610257	SEC31-like 1 (S. cerevisiae), Sec31 homolog A (S. cerevisiae)	SEC31L1	NA	10048485, 10788476	Standard	NM_016211	NM_001077206	NA	Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.1480G>T	4.37:g.83784500C>A	ENSP00000378721:p.Gly494*	NA	B7ZKZ7|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	37	CCDS3596.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.624468|7.624468	0.98396|0.98396	.|.	.|.	ENSG00000138674|ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984;ENST00000508479;ENST00000510167|ENST00000507828;ENST00000512664	.|.	.|.	.|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.104337|.	0.64402|.	D|.	0.000003|.	.|T	.|0.76579	.|0.4007	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74999	.|-0.3472	.|3	0.87932|.	D|.	0|.	-3.3031|-3.3031	19.4671|19.4671	0.94946|0.94946	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|M	494;494;494;489;494;494;494;494;494;494;494;494;494;266;494;494;95|136;47	.|.	ENSP00000264405:G266X|.	G|R	-|-	1|2	0|0	SEC31A|SEC31A	84003524|84003524	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.945000|0.945000	0.59286|0.59286	7.818000|7.818000	0.86416|0.86416	2.614000|2.614000	0.88457|0.88457	0.467000|0.467000	0.42956|0.42956	GGA|AGG	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252640.1		-	ENST00000395310.2	Nonsense_Mutation	SNP	4 : 83784500 - 83784500 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	18
ITPR1	3708	broad.mit.edu	37	3	4683914	4683914	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4683914G>T	ENST00000357086.4	+	7	852	c.504G>T	c.(502-504)aaG>aaT	p.K168N	ITPR1_ENST00000443694.2_Missense_Mutation_p.K168N|ITPR1_ENST00000456211.2_Missense_Mutation_p.K168N|ITPR1_ENST00000302640.8_Missense_Mutation_p.K168N|ITPR1_ENST00000354582.6_Missense_Mutation_p.K168N|ITPR1_ENST00000544951.1_Missense_Mutation_p.K168N|ITPR1_ENST00000423119.2_Missense_Mutation_p.K168N			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	168					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CATTCTACAAGCTGCGATCCA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	93	92			NA	NA	3		NA											NA				4683914		2007	4173	6180	SO:0001583	missense			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995	3708	3708		Ion channels / Inositol triphosphate receptors	6180	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 94	147265	spinocerebellar ataxia 15, spinocerebellar ataxia 16, spinocerebellar ataxia 29	SCA15, SCA16, SCA29	NA	7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_002222	NM_001099952	NA	Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000357086.4:c.504G>T	3.37:g.4683914G>T	ENSP00000349597:p.Lys168Asn	NA	Q14660|Q99897	37	CCDS46740.2	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299581	0.60195	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.99176	-5.52;-5.52;-5.52;-5.52;-5.52;-5.52;-5.52	5.28	3.48	0.39840	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR (1);	0.000000	0.85682	D	0.000000	D	0.99333	0.9766	M	0.93854	3.465	0.37152	D	0.902198	D;P;D;P;P	0.89917	0.977;0.91;1.0;0.885;0.86	D;P;D;P;P	0.97110	0.993;0.795;1.0;0.638;0.505	D	0.99905	1.1178	10	0.87932	D	0	.	9.6978	0.40167	0.2638:0.0:0.7362:0.0	.	168;168;168;168;168	B7ZMI3;E7EPX7;Q14643;E7EVP7;G5E9P1	.;.;ITPR1_HUMAN;.;.	N	168	ENSP00000306253:K168N;ENSP00000346595:K168N;ENSP00000405934:K168N;ENSP00000349597:K168N;ENSP00000397885:K168N;ENSP00000440564:K168N;ENSP00000401671:K168N	ENSP00000306253:K168N	K	+	3	2	ITPR1	4658914	0.993000	0.37304	1.000000	0.80357	0.590000	0.36582	0.318000	0.19504	1.223000	0.43536	0.655000	0.94253	AAG	ITPR1-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337979.3		+	ENST00000357086.4	Missense_Mutation	SNP	3 : 4683914 - 4683914 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	196	21
GPR98	84059	broad.mit.edu	37	5	89924519	89924519	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:89924519A>G	ENST00000405460.2	+	8	1475	c.1379A>G	c.(1378-1380)cAa>cGa	p.Q460R		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	460	Calx-beta 4.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CATTTTGCACAAGGGCAGATG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	151	152			NA	NA	5		NA											NA				89924519		1972	4162	6134	SO:0001583	missense			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199	84059	84059		-, GPCR / Class B : Orphans	17416	protein-coding gene	gene with protein product		602851	monogenic, audiogenic seizure susceptibility 1 homolog (mouse)	USH2C, MASS1	NA	10976914, 14740321	Standard	NM_032119	NM_032119	NA	Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.1379A>G	5.37:g.89924519A>G	ENSP00000384582:p.Gln460Arg	NA	O75171|Q8TF58|Q9H0X5|Q9UL61	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.281698	0.80692	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.30981	1.51	5.72	4.53	0.55603	.	0.116585	0.64402	D	0.000014	T	0.47820	0.1466	M	0.67953	2.075	0.80722	D	1	D	0.63046	0.992	P	0.58210	0.835	T	0.49428	-0.8941	10	0.62326	D	0.03	.	13.1022	0.59226	0.866:0.134:0.0:0.0	.	460	Q8WXG9	GPR98_HUMAN	R	460	ENSP00000384582:Q460R	ENSP00000296619:Q460R	Q	+	2	0	GPR98	89960275	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.673000	0.68109	1.060000	0.40578	0.528000	0.53228	CAA	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369993.2		+	ENST00000405460.2	Missense_Mutation	SNP	5 : 89924519 - 89924519 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	464	17
IDH3A	3419	broad.mit.edu	37	15	78454048	78454048	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78454048G>A	ENST00000299518.2	+	5	498	c.415G>A	c.(415-417)Gat>Aat	p.D139N	IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000558554.1_Missense_Mutation_p.D104N|IDH3A_ENST00000441490.2_Missense_Mutation_p.D30N	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	139					carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12					NADH(DB00157)	CCCTTACACCGATGTAAATAT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													192	183	186			NA	NA	15		NA											NA				78454048		2196	4293	6489	SO:0001583	missense				CCDS10297.1	15q25.1-q25.2	2008-07-18			ENSG00000166411	ENSG00000166411	3419	3419	1.1.1.41		5384	protein-coding gene	gene with protein product	H-IDH alpha, isocitric dehydrogenase, isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial, NAD+-specific ICDH, NAD(H)-specific isocitrate dehydrogenase alpha subunit, isocitrate dehydrogenase (NAD+) alpha chain	601149			NA	8833160	Standard	NM_005530	NM_005530	NA	Approved		uc002bdd.3	P50213	OTTHUMG00000143732	ENST00000299518.2:c.415G>A	15.37:g.78454048G>A	ENSP00000299518:p.Asp139Asn	NA	D3DW83|Q9H3X0	37	CCDS10297.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.828324	0.32329	.	.	ENSG00000166411	ENST00000299518;ENST00000441490	T;T	0.54866	0.55;0.55	6.02	6.02	0.97574	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	T	0.35508	0.0934	N	0.11927	0.2	0.80722	D	1	B;B	0.18013	0.025;0.008	B;B	0.23574	0.047;0.014	T	0.28235	-1.0050	10	0.02654	T	1	-31.065	19.5254	0.95203	0.0:0.0:1.0:0.0	.	104;139	B4DSY4;P50213	.;IDH3A_HUMAN	N	139;30	ENSP00000299518:D139N;ENSP00000387506:D30N	ENSP00000299518:D139N	D	+	1	0	IDH3A	76241103	1.000000	0.71417	0.730000	0.30809	0.862000	0.49288	9.594000	0.98254	2.857000	0.98124	0.650000	0.86243	GAT	IDH3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000289799.4		+	ENST00000299518.2	Missense_Mutation	SNP	15 : 78454048 - 78454048 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	960	191
SMARCA2	6595	broad.mit.edu	37	9	2119478	2119478	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2119478C>T	ENST00000382203.1	+	26	3914	c.3705C>T	c.(3703-3705)gaC>gaT	p.D1235D	SMARCA2_ENST00000357248.2_Silent_p.D1235D|SMARCA2_ENST00000382194.1_Silent_p.D1235D|SMARCA2_ENST00000349721.2_Silent_p.D1235D			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1235					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AAGTACCGGACGATGAGACTC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	100	103			NA	NA	9		NA											NA				2119478		2203	4300	6503	SO:0001819	synonymous_variant			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503	6595	6595			11098	protein-coding gene	gene with protein product		600014		SNF2L2	NA	8012116	Standard	NM_003070	NM_003070	NA	Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3705C>T	9.37:g.2119478C>T		NA	B1ALG3|B1ALG4|D3DRH4|D3DRH5	37	CCDS34977.1																																																																																			SMARCA2-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051505.1		+	ENST00000382203.1	Silent	SNP	9 : 2119478 - 2119478 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	318	43
CHD1L	9557	broad.mit.edu	37	1	146731508	146731508	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:146731508T>G	ENST00000369258.4	+	6	532	c.512T>G	c.(511-513)cTt>cGt	p.L171R	CHD1L_ENST00000369259.3_Intron|CHD1L_ENST00000361293.5_5'UTR|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Missense_Mutation_p.L171R	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	171	Helicase ATP-binding.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TGGAGTGTTCTTGTTGTGGAT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													202	213	209			NA	NA	1		NA											NA				146731508		2203	4300	6503	SO:0001583	missense			AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778	9557	9557			1916	protein-coding gene	gene with protein product		613039			NA	9653160	Standard	NM_004284	NM_004284	NA	Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.512T>G	1.37:g.146731508T>G	ENSP00000358262:p.Leu171Arg	NA	A5YM64|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	37	CCDS927.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.157255	0.78114	.	.	ENSG00000131778	ENST00000431239;ENST00000369258;ENST00000436230;ENST00000254086	D;D	0.95001	-3.58;-3.58	4.96	4.96	0.65561	DEAD-like helicase (2);DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site (1);SNF2-related (1);	0.000000	0.64402	D	0.000001	D	0.97532	0.9192	H	0.94886	3.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98374	1.0555	10	0.87932	D	0	.	11.3378	0.49513	0.0:0.0:0.0:1.0	.	171;171	Q86WJ1-2;Q86WJ1	.;CHD1L_HUMAN	R	171;171;71;132	ENSP00000389031:L171R;ENSP00000358262:L171R	ENSP00000254086:L132R	L	+	2	0	CHD1L	145198132	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.048000	0.76606	1.993000	0.58246	0.528000	0.53228	CTT	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040377.1		+	ENST00000369258.4	Missense_Mutation	SNP	1 : 146731508 - 146731508 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1476	225
IARS	3376	broad.mit.edu	37	9	95032245	95032245	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95032245T>C	ENST00000375643.3	-	13	1492	c.1226A>G	c.(1225-1227)tAc>tGc	p.Y409C	IARS_ENST00000447699.2_Missense_Mutation_p.Y299C|IARS_ENST00000443024.2_Missense_Mutation_p.Y409C|IARS_ENST00000375629.3_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	409					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CACTGCTTTGTAAATTAGAGG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	105	110			NA	NA	9		NA											NA				95032245		2203	4300	6503	SO:0001583	missense			AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	3376	3376	6.1.1.5	Aminoacyl tRNA synthetases / Class I	5330	protein-coding gene	gene with protein product	isoleucine tRNA ligase 1, cytoplasmic	600709			NA	8812440	Standard	NM_002161	NM_002161	NA	Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.1226A>G	9.37:g.95032245T>C	ENSP00000364794:p.Tyr409Cys	NA	A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	37	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.413486	0.83449	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660	T;T;T	0.39229	1.09;1.09;1.09	5.61	5.61	0.85477	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.80665	0.4666	H	0.99770	4.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89308	0.3631	10	0.87932	D	0	-14.5538	14.789	0.69824	0.0:0.0:0.0:1.0	.	409;254	P41252;Q6P0M4	SYIC_HUMAN;.	C	409;409;299;409	ENSP00000364794:Y409C;ENSP00000406448:Y409C;ENSP00000415020:Y299C	ENSP00000364794:Y409C	Y	-	2	0	IARS	94072066	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.648000	0.83479	2.143000	0.66587	0.533000	0.62120	TAC	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053059.2		-	ENST00000375643.3	Missense_Mutation	SNP	9 : 95032245 - 95032245 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	281	45
TIMM50	92609	broad.mit.edu	37	19	39972597	39972597	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39972597C>A	ENST00000314349.4	+	2	625	c.492C>A	c.(490-492)agC>agA	p.S164R	TIMM50_ENST00000544017.1_5'UTR|TIMM50_ENST00000599794.1_Intron|TIMM50_ENST00000607714.1_Missense_Mutation_p.S61R	NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	61	FCP1 homology.				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGGGTCCCAGCTATGCCAAAA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	118	115			NA	NA	19		NA											NA				39972597		2203	4300	6503	SO:0001583	missense			BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197	92609	92609		Serine/threonine phosphatases / CTD aspartate-based phosphatases	23656	protein-coding gene	gene with protein product		607381	translocase of inner mitochondrial membrane 50 homolog (yeast)		NA	12437925	Standard	NM_001001563	NM_001001563	NA	Approved	TIM50L	uc002olu.1	Q3ZCQ8		ENST00000314349.4:c.492C>A	19.37:g.39972597C>A	ENSP00000318115:p.Ser164Arg	NA	Q6QA00|Q96FJ5|Q96GY2|Q9H370	37	CCDS33023.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.888964	0.72524	.	.	ENSG00000105197	ENST00000314349	.	.	.	4.65	2.53	0.30540	.	0.110348	0.64402	D	0.000009	T	0.55449	0.1921	L	0.38175	1.15	0.80722	D	1	D	0.65815	0.995	D	0.66497	0.944	T	0.49418	-0.8942	8	.	.	.	-24.6103	8.1279	0.31010	0.0:0.735:0.0:0.265	.	164	Q3ZCQ8-2	.	R	164	.	.	S	+	3	2	TIMM50	44664437	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.156000	0.31712	0.578000	0.29487	0.561000	0.74099	AGC	TIMM50-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464935.1		+	ENST00000314349.4	Missense_Mutation	SNP	19 : 39972597 - 39972597 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	943	186
CASP8	841	broad.mit.edu	37	2	202149924	202149924	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202149924G>A	ENST00000358485.4	+	8	1561	c.1365G>A	c.(1363-1365)gaG>gaA	p.E455E	CASP8_ENST00000264274.9_Silent_p.E312E|CASP8_ENST00000264275.5_Silent_p.E413E|CASP8_ENST00000432109.2_Silent_p.E396E|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000323492.7_Silent_p.E381E	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	396					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TCCCGGATGAGGCTGACTTTC	0.463		NA								HNSCC(4;0.00038)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(82;831 1348 20716 36952 40159)							NA				0													71	66	68			NA	NA	2		NA											NA				202149924		2203	4300	6503	SO:0001819	synonymous_variant			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012	841	841		Caspases	1509	protein-coding gene	gene with protein product		601763	caspase 8, apoptosis-related cysteine protease		NA	8681376, 8681377	Standard	NM_001228	NM_033355	NA	Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000358485.4:c.1365G>A	2.37:g.202149924G>A		NA	O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	37	CCDS42798.1																																																																																			CASP8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256278.3		+	ENST00000358485.4	Silent	SNP	2 : 202149924 - 202149924 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	343	89
RAB32	10981	broad.mit.edu	37	6	146865053	146865053	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146865053G>A	ENST00000367495.3	+	1	225	c.46G>A	c.(46-48)Gcc>Acc	p.A16T		NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	16					protein transport|small GTPase mediated signal transduction	mitochondrion	GTP binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		ggcggccgccgccccagcgcc	0.741		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	15	15			NA	NA	6		NA											NA				146865053		2195	4292	6487	SO:0001583	missense			U71127	CCDS5210.1	6q24.2	2010-08-20			ENSG00000118508	ENSG00000118508	10981	10981		RAB, member RAS oncogene, A-kinase anchor proteins	9772	protein-coding gene	gene with protein product		612906			NA		Standard	NM_006834	NM_006834	NA	Approved		uc003qln.1	Q13637	OTTHUMG00000015755	ENST00000367495.3:c.46G>A	6.37:g.146865053G>A	ENSP00000356465:p.Ala16Thr	NA		37	CCDS5210.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.341737	0.24339	.	.	ENSG00000118508	ENST00000367495	T	0.71934	-0.61	3.91	-2.18	0.07037	.	1.151740	0.06349	N	0.709584	T	0.18425	0.0442	N	0.16130	0.375	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.03139	-1.1068	10	0.10636	T	0.68	-0.0129	0.2257	0.00173	0.2899:0.1442:0.2731:0.2929	.	16	Q13637	RAB32_HUMAN	T	16	ENSP00000356465:A16T	ENSP00000356465:A16T	A	+	1	0	RAB32	146906746	.	.	0.000000	0.03702	0.003000	0.03518	.	.	-0.855000	0.04125	-0.315000	0.08773	GCC	RAB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042579.1		+	ENST00000367495.3	Missense_Mutation	SNP	6 : 146865053 - 146865053 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	109	25
HNRNPA1L2	144983	broad.mit.edu	37	13	53217583	53217583	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53217583G>T	ENST00000357495.2	+	1	1016	c.956G>T	c.(955-957)aGa>aTa	p.R319I	HNRNPA1L2_ENST00000398039.1_Missense_Mutation_p.R319I|HNRNPA1L2_ENST00000342657.3_Missense_Mutation_p.R319I			Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2	319					mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding			cervix(1)|large_intestine(1)|lung(5)	7						AGTGGCAGAAGATTTTAATTA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	33	32			NA	NA	13		NA											NA				53217583		1554	2869	4423	SO:0001583	missense				CCDS31980.1	13q14.3	2013-02-12			ENSG00000139675	ENSG00000139675	144983	144983		RNA binding motif (RRM) containing	27067	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_001011724	NM_001011724	NA	Approved	LOC144983	uc001vgy.1	Q32P51	OTTHUMG00000016972	ENST00000357495.2:c.956G>T	13.37:g.53217583G>T	ENSP00000350090:p.Arg319Ile	NA	Q5TBS2	37	CCDS31980.1	.	.	.	.	.	.	.	.	.	.	g	12.69	2.013350	0.35511	.	.	ENSG00000139675	ENST00000342657;ENST00000398039;ENST00000357495	T;T;T	0.70631	-0.5;-0.5;-0.5	0.352	0.352	0.16051	.	.	.	.	.	D	0.84097	0.5397	H	0.95982	3.75	0.37038	D	0.897007	D	0.55605	0.972	P	0.55011	0.766	D	0.88224	0.2899	8	0.87932	D	0	.	.	.	.	.	319	Q32P51	RA1L2_HUMAN	I	319	ENSP00000341285:R319I;ENSP00000381119:R319I;ENSP00000350090:R319I	ENSP00000341285:R319I	R	+	2	0	HNRNPA1L2	52115584	0.120000	0.22244	0.981000	0.43875	0.425000	0.31504	1.288000	0.33296	0.455000	0.26910	0.089000	0.15464	AGA	HNRNPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045098.1		+	ENST00000357495.2	Missense_Mutation	SNP	13 : 53217583 - 53217583 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	303	41
CEP192	55125	broad.mit.edu	37	18	13059253	13059253	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13059253C>T	ENST00000506447.1	+	21	4510	c.4430C>T	c.(4429-4431)gCa>gTa	p.A1477V	CEP192_ENST00000325971.8_Missense_Mutation_p.A881V|CEP192_ENST00000430049.2_Missense_Mutation_p.A1002V	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1072										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATCGTACAGGCAGAAGCTTTG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	146	150			NA	NA	18		NA											NA				13059253		2203	4300	6503	SO:0001583	missense			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639	55125	55125		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	25515	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 62				NA	11230166, 14654843	Standard	NM_032142	NM_032142	NA	Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000506447.1:c.4430C>T	18.37:g.13059253C>T	ENSP00000427550:p.Ala1477Val	NA		37	CCDS32792.2	.	.	.	.	.	.	.	.	.	.	C	17.27	3.348313	0.61183	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.80033	-1.33;-1.33;-1.33	5.08	5.08	0.68730	.	0.061993	0.64402	D	0.000005	D	0.88355	0.6414	M	0.65498	2.005	0.58432	D	0.999999	D;D;D	0.71674	0.998;0.989;0.998	P;P;D	0.65233	0.874;0.879;0.933	D	0.89379	0.3680	10	0.72032	D	0.01	-16.2963	18.8382	0.92171	0.0:1.0:0.0:0.0	.	1002;1477;881	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	V	1477;881;881;1002	ENSP00000427550:A1477V;ENSP00000317156:A881V;ENSP00000389190:A1002V	ENSP00000317156:A881V	A	+	2	0	CEP192	13049253	1.000000	0.71417	0.365000	0.25901	0.011000	0.07611	7.223000	0.78033	2.520000	0.84964	0.591000	0.81541	GCA	CEP192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361790.1		+	ENST00000506447.1	Missense_Mutation	SNP	18 : 13059253 - 13059253 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	627	129
LTBP4	8425	broad.mit.edu	37	19	41125325	41125325	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41125325C>A	ENST00000602240.1	+	0	3233				LTBP4_ENST00000545697.1_Silent_p.L482L|LTBP4_ENST00000396819.3_Silent_p.L1047L|LTBP4_ENST00000243562.9_Silent_p.L168L|LTBP4_ENST00000204005.9_Silent_p.L1077L|LTBP4_ENST00000308370.7_Silent_p.L1114L			Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	NA					growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTCCTTCCTCTGTGTCTGCC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	116	116			NA	NA	19		NA											NA				41125325		1989	4174	6163	SO:0001624	3_prime_UTR_variant			Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006	8425	8425		Latent transforming growth factor, beta binding proteins	6717	protein-coding gene	gene with protein product		604710			NA	9660815, 9271198	Standard	NM_003573	NM_003573	NA	Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000602240.1:c.*3230C>A	19.37:g.41125325C>A		NA	O00508|O75412|O75413	37																																																																																				LTBP4-002	KNOWN	sequence_error|basic	processed_transcript	NA	protein_coding	OTTHUMT00000462815.2		+	ENST00000602240.1	3'UTR	SNP	19 : 41125325 - 41125325 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	391	53
MTO1	25821	broad.mit.edu	37	6	74189713	74189713	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74189713G>T	ENST00000498286.1	+	6	1270	c.993G>T	c.(991-993)caG>caT	p.Q331H	MTO1_ENST00000370305.1_Missense_Mutation_p.Q257H|MTO1_ENST00000415954.2_Missense_Mutation_p.Q331H|MTO1_ENST00000370300.4_Missense_Mutation_p.Q331H			Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	331					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						GTCTACATCAGGTTTGGTTGG	0.383		NA									OREG0003887	type=REGULATORY REGION|Gene=MTO1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	114	117			NA	NA	6		NA											NA				74189713		2203	4300	6503	SO:0001583	missense			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.993G>T	6.37:g.74189713G>T	ENSP00000419561:p.Gln331His	1151	B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	37	CCDS34485.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.393532	0.62066	.	.	ENSG00000135297	ENST00000415954;ENST00000498286;ENST00000357845;ENST00000370305;ENST00000370300	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.14	2.33	0.28932	.	0.000000	0.85682	D	0.000000	T	0.75034	0.3795	M	0.62723	1.935	0.49687	D	0.999819	P;P;P	0.52170	0.951;0.912;0.929	P;P;P	0.56960	0.712;0.712;0.81	T	0.76857	-0.2804	10	0.87932	D	0	-16.8034	9.0065	0.36115	0.2501:0.0:0.7499:0.0	.	331;331;331	Q9Y2Z2-6;Q9Y2Z2-4;Q9Y2Z2	.;.;MTO1_HUMAN	H	331;331;234;257;331	ENSP00000402038:Q331H;ENSP00000419561:Q331H;ENSP00000359328:Q257H;ENSP00000359323:Q331H	ENSP00000350506:Q234H	Q	+	3	2	MTO1	74246434	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.201000	0.51059	0.672000	0.31204	0.591000	0.81541	CAG	MTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041213.3		+	ENST00000498286.1	Missense_Mutation	SNP	6 : 74189713 - 74189713 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	87
OR51B4	79339	broad.mit.edu	37	11	5322876	5322876	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5322876T>C	ENST00000380224.1	-	1	350	c.301A>G	c.(301-303)Att>Gtt	p.I101V	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTGAATGAATGAAGGATTGG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	140	145			NA	NA	11		NA											NA				5322876		2201	4297	6498	SO:0001583	missense			BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251	79339	79339		GPCR / Class A : Olfactory receptors	14708	protein-coding gene	gene with protein product					NA		Standard	NM_033179	NM_033179	NA	Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.301A>G	11.37:g.5322876T>C	ENSP00000369573:p.Ile101Val	NA	A7MAV5|Q6NTD7	37	CCDS7757.1	.	.	.	.	.	.	.	.	.	.	T	6.257	0.415455	0.11870	.	.	ENSG00000183251	ENST00000380224	T	0.37058	1.22	4.28	4.28	0.50868	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000081	T	0.26521	0.0648	L	0.31371	0.925	0.23227	N	0.998081	B	0.30824	0.296	B	0.33454	0.164	T	0.22906	-1.0203	10	0.66056	D	0.02	.	8.086	0.30773	0.1803:0.0:0.0:0.8196	.	101	Q9Y5P0	O51B4_HUMAN	V	101	ENSP00000369573:I101V	ENSP00000369573:I101V	I	-	1	0	OR51B4	5279452	0.744000	0.28250	0.465000	0.27155	0.004000	0.04260	0.779000	0.26746	1.806000	0.52798	0.533000	0.62120	ATT	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000142956.2		-	ENST00000380224.1	Missense_Mutation	SNP	11 : 5322876 - 5322876 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	345	63
TOP3A	7156	broad.mit.edu	37	17	18194249	18194249	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18194249G>A	ENST00000321105.5	-	12	1588	c.1374C>T	c.(1372-1374)atC>atT	p.I458I	TOP3A_ENST00000542570.1_Silent_p.I363I|TOP3A_ENST00000540524.1_5'UTR	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	458					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GAGCGATGTCGATCTCCACTG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	120	123			NA	NA	17		NA											NA				18194249		2203	4300	6503	SO:0001819	synonymous_variant			U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302	7156	7156			11992	protein-coding gene	gene with protein product	zinc finger, GRF-type containing 7	601243		TOP3	NA	9450867	Standard		NM_004618	NA	Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.1374C>T	17.37:g.18194249G>A		NA	A8KA61|D3DXC7|Q13473	37	CCDS11194.1																																																																																			TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132052.2		-	ENST00000321105.5	Silent	SNP	17 : 18194249 - 18194249 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	374	67
RINL	126432	broad.mit.edu	37	19	39360243	39360243	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39360243G>T	ENST00000591812.1	-	10	1530	c.1444C>A	c.(1444-1446)Ctc>Atc	p.L482I	RINL_ENST00000340740.3_Missense_Mutation_p.L368I|RINL_ENST00000598904.1_Missense_Mutation_p.L368I			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	368							GTPase activator activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						GGATCTAAGAGCTCCATAAGA	0.632		NA									OREG0025454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	68	66			NA	NA	19		NA											NA				39360243		2203	4300	6503	SO:0001583	missense			AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994	126432	126432			24795	protein-coding gene	gene with protein product					NA		Standard	NM_198445	NM_001195833	NA	Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.1444C>A	19.37:g.39360243G>T	ENSP00000467107:p.Leu482Ile	885		37	CCDS59386.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952248	0.73787	.	.	ENSG00000187994	ENST00000340740;ENST00000536520	T	0.37235	1.21	5.27	4.17	0.49024	Vacuolar sorting protein 9 (2);	0.069635	0.56097	D	0.000024	T	0.43010	0.1228	L	0.57536	1.79	0.41040	D	0.985222	P;P	0.47484	0.896;0.747	P;P	0.49853	0.624;0.624	T	0.36456	-0.9747	10	0.52906	T	0.07	-23.169	11.7106	0.51623	0.0:0.0:0.8239:0.1761	.	482;368	B4DPG5;Q6ZS11	.;RINL_HUMAN	I	368	ENSP00000340369:L368I	ENSP00000340369:L368I	L	-	1	0	RINL	44052083	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	2.849000	0.48286	2.613000	0.88420	0.462000	0.41574	CTC	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460433.1		-	ENST00000591812.1	Missense_Mutation	SNP	19 : 39360243 - 39360243 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	456	73
PRDM14	63978	broad.mit.edu	37	8	70981662	70981662	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70981662C>T	ENST00000276594.2	-	2	635	c.434G>A	c.(433-435)gGa>gAa	p.G145E		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			AGTGTCAGGTCCACAACACGG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(129;99 1813 5906 40656 46114)							NA				0													58	54	55			NA	NA	8		NA											NA				70981662		2203	4300	6503	SO:0001583	missense			AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596	63978	63978		Zinc fingers, C2H2-type	14001	protein-coding gene	gene with protein product		611781			NA		Standard		NM_024504	NA	Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.434G>A	8.37:g.70981662C>T	ENSP00000276594:p.Gly145Glu	NA	Q86UX9	37	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457606	0.43634	.	.	ENSG00000147596	ENST00000276594	T	0.10288	2.89	4.91	0.865	0.19074	.	1.039280	0.07551	N	0.915390	T	0.07324	0.0185	N	0.20986	0.625	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.41822	-0.9487	10	0.35671	T	0.21	-1.2174	5.2354	0.15443	0.0:0.4967:0.3205:0.1828	.	145	Q9GZV8	PRD14_HUMAN	E	145	ENSP00000276594:G145E	ENSP00000276594:G145E	G	-	2	0	PRDM14	71144216	0.976000	0.34144	0.001000	0.08648	0.062000	0.15995	-0.100000	0.10990	-0.026000	0.13895	0.563000	0.77884	GGA	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318505.1		-	ENST00000276594.2	Missense_Mutation	SNP	8 : 70981662 - 70981662 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	48
RTN3	10313	broad.mit.edu	37	11	63517644	63517644	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63517644G>T	ENST00000377819.5	+	4	2866	c.2712G>T	c.(2710-2712)caG>caT	p.Q904H	RTN3_ENST00000341307.2_Missense_Mutation_p.Q108H|RTN3_ENST00000537981.1_Missense_Mutation_p.Q108H|RTN3_ENST00000540798.1_Missense_Mutation_p.Q792H|RTN3_ENST00000356000.3_Missense_Mutation_p.Q127H|RTN3_ENST00000354497.4_Missense_Mutation_p.Q108H|RTN3_ENST00000339997.4_Missense_Mutation_p.Q885H	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	904	Reticulon.				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AAGCTGTACAGAAGTCAGAAG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	62	68			NA	NA	11		NA											NA				63517644		2201	4298	6499	SO:0001583	missense			AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318	10313	10313			10469	protein-coding gene	gene with protein product	neuroendocrine-specific protein-like 2, NSP-like protein II, isoforme III, ASY interacting protein, homolog of ASY protein	604249			NA	10331947	Standard	NM_006054	NM_006054	NA	Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.2712G>T	11.37:g.63517644G>T	ENSP00000367050:p.Gln904His	NA	B3KQS2|B7Z308|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	37	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.754684	0.69648	.	.	ENSG00000133318	ENST00000341307;ENST00000356000;ENST00000542238;ENST00000377819;ENST00000339997;ENST00000540798;ENST00000537981;ENST00000354497	T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.1	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.63710	0.2534	M	0.68593	2.085	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	0.998;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.996;0.999;0.999;0.981;0.996;0.999;0.986	T	0.65043	-0.6264	10	0.59425	D	0.04	-7.2178	10.9225	0.47174	0.0923:0.0:0.9077:0.0	.	108;792;904;108;108;885;127	B7Z4M0;F5H774;O95197;O95197-5;O95197-3;O95197-2;O95197-4	.;.;RTN3_HUMAN;.;.;.;.	H	108;127;134;904;885;792;108;108	ENSP00000340903:Q108H;ENSP00000348279:Q127H;ENSP00000437971:Q134H;ENSP00000367050:Q904H;ENSP00000344106:Q885H;ENSP00000442733:Q792H;ENSP00000440874:Q108H;ENSP00000346492:Q108H	ENSP00000344106:Q885H	Q	+	3	2	RTN3	63274220	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.875000	0.63072	2.538000	0.85594	0.655000	0.94253	CAG	RTN3-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397846.1		+	ENST00000377819.5	Missense_Mutation	SNP	11 : 63517644 - 63517644 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	114	21
LSM11	134353	broad.mit.edu	37	5	157178476	157178476	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:157178476T>G	ENST00000286307.5	+	2	583	c.527T>G	c.(526-528)tTc>tGc	p.F176C		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	176	SM 1.				histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATCCGCACTTTCAAGGGACTT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	132	134			NA	NA	5		NA											NA				157178476		2203	4300	6503	SO:0001583	missense			AK095592	CCDS4342.1	5q33.3	2008-02-05	2004-04-28		ENSG00000155858	ENSG00000155858	134353	134353			30860	protein-coding gene	gene with protein product			LSM11 homolog, U7 small nuclear RNA associated (S. cerevisiae)		NA	12975319	Standard	NM_173491	NM_173491	NA	Approved	FLJ38273	uc003lxe.1	P83369	OTTHUMG00000130255	ENST00000286307.5:c.527T>G	5.37:g.157178476T>G	ENSP00000286307:p.Phe176Cys	NA	A0AVQ1|Q7Z7P0|Q8N975	37	CCDS4342.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.796430	0.90453	.	.	ENSG00000155858	ENST00000286307	T	0.41400	1.0	5.87	5.87	0.94306	Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (2);	0.141008	0.64402	D	0.000006	T	0.61464	0.2349	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63102	-0.6712	10	0.72032	D	0.01	-16.7964	16.5764	0.84681	0.0:0.0:0.0:1.0	.	176	P83369	LSM11_HUMAN	C	176	ENSP00000286307:F176C	ENSP00000286307:F176C	F	+	2	0	LSM11	157111054	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.965000	0.87945	2.371000	0.80710	0.533000	0.62120	TTC	LSM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252580.2		+	ENST00000286307.5	Missense_Mutation	SNP	5 : 157178476 - 157178476 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	649	118
PSMD3	5709	broad.mit.edu	37	17	38151281	38151281	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38151281C>T	ENST00000264639.4	+	7	1230	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S	PSMD3_ENST00000541736.1_Silent_p.S214S	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	352					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					GCCAGCCCTCCCTCAAGCGCT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(186;531 2051 6385 19668 48409)							NA				0													93	98	96			NA	NA	17		NA											NA				38151281		2203	4300	6503	SO:0001819	synonymous_variant			D67025	CCDS11356.1	17q21.2	2010-07-23			ENSG00000108344	ENSG00000108344	5709	5709		Proteasome (prosome, macropain) subunits	9560	protein-coding gene	gene with protein product			tissue specific transplantation antigen 2	TSTA2	NA	9017604	Standard	NM_002809	NM_002809	NA	Approved	S3, P58, Rpn3	uc002htn.2	O43242	OTTHUMG00000133251	ENST00000264639.4:c.1056C>T	17.37:g.38151281C>T		NA	B3KMW9|Q96EI2|Q9BQA4	37	CCDS11356.1																																																																																			PSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257018.1		+	ENST00000264639.4	Silent	SNP	17 : 38151281 - 38151281 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	693	24
CNTN1	1272	broad.mit.edu	37	12	41414236	41414236	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41414236C>T	ENST00000551295.2	+	20	2634	c.2517C>T	c.(2515-2517)agC>agT	p.S839S	CNTN1_ENST00000348761.2_Silent_p.S828S|CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000347616.1_Silent_p.S839S	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	839	Fibronectin type-III 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TAGTGGAAAGCTATCAGGTAC	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	46	45			NA	NA	12		NA											NA				41414236		2203	4293	6496	SO:0001819	synonymous_variant			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236	1272	1272		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing, Endogenous ligands	2171	protein-coding gene	gene with protein product	glycoprotein gP135	600016			NA	7959734, 8586965	Standard	NM_001843	NM_001843	NA	Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2517C>T	12.37:g.41414236C>T		NA	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	37	CCDS8737.1																																																																																			CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403692.2		+	ENST00000551295.2	Silent	SNP	12 : 41414236 - 41414236 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	195	32
FBN1	2200	broad.mit.edu	37	15	48779509	48779509	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48779509C>T	ENST00000316623.5	-	28	3918	c.3463G>A	c.(3463-3465)Gac>Aac	p.D1155N		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1155	EGF-like 18; calcium-binding.		D -> N (in MFS).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTCTCCTTACCGATACACGCG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM960637	FBN1	M							93	94	94			NA	NA	15		NA											NA				48779509		2198	4296	6494	SO:0001630	splice_region_variant			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147	2200	2200			3603	protein-coding gene	gene with protein product	Marfan syndrome	134797	fibrillin 1 (Marfan syndrome)	FBN, MFS1, WMS	NA	10036187, 12525539	Standard		NM_000138	NA	Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3463+1G>A	15.37:g.48779509C>T		NA	B2RUU0|Q15972|Q75N87	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045556	0.93685	.	.	ENSG00000166147	ENST00000316623	D	0.99051	-5.37	5.6	5.6	0.85130	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.095797	0.64402	D	0.000001	D	0.99351	0.9772	M	0.85630	2.765	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.99323	1.0907	9	.	.	.	.	19.2077	0.93739	0.0:1.0:0.0:0.0	.	1155	P35555	FBN1_HUMAN	N	1155	ENSP00000325527:D1155N	.	D	-	1	0	FBN1	46566801	1.000000	0.71417	0.963000	0.40424	0.409000	0.31022	5.775000	0.68915	2.639000	0.89480	0.655000	0.94253	GAC	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417355.1	Missense_Mutation	-	ENST00000316623.5	Splice_Site	SNP	15 : 48779509 - 48779509 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	364	75
PRRC2C	23215	broad.mit.edu	37	1	171560857	171560857	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171560857C>T	ENST00000367742.3	+	34	8573	c.8331C>T	c.(8329-8331)acC>acT	p.T2777T	PRRC2C_ENST00000426496.2_Silent_p.T2710T|PRRC2C_ENST00000338920.4_Silent_p.T2775T|PRRC2C_ENST00000392078.3_Silent_p.T2856T			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1053							protein C-terminus binding				NA						AAACACTGACCGACCCTCCTG	0.507		NA											C	1	5e-04	NA	0.0028	2184	NA	0.9998	,	,	NA	3e-04	NA	NA	NA	5e-04	0.8415	LOWCOV	NA	NA	1e-04	SNP								NA				0													71	71	71			NA	NA	1		NA											NA				171560857		1874	4100	5974	SO:0001819	synonymous_variant			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523	23215	23215			24903	protein-coding gene	gene with protein product			BAT2 domain containing 1, HLA-B associated transcript 2-like 2	BAT2D1, BAT2L2	NA	10470851, 12443540	Standard	NM_015172	NM_015172	NA	Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000367742.3:c.8331C>T	1.37:g.171560857C>T		NA	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	37		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	1.170	-0.641154	0.03557	.	.	ENSG00000117523	ENST00000495585	.	.	.	5.58	-10.3	0.00346	.	.	.	.	.	T	0.18923	0.0454	.	.	.	0.45005	D	0.998024	.	.	.	.	.	.	T	0.43081	-0.9413	4	.	.	.	.	4.3941	0.11355	0.1849:0.4339:0.0946:0.2866	.	.	.	.	L	1258	.	.	P	+	2	0	PRRC2C	169827480	0.000000	0.05858	0.171000	0.22900	0.777000	0.43975	-3.083000	0.00612	-1.942000	0.01040	-1.512000	0.00943	CCG	PRRC2C-001	NOVEL	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000083864.4		+	ENST00000367742.3	Silent	SNP	1 : 171560857 - 171560857 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	352	13
SPEG	10290	broad.mit.edu	37	2	220347984	220347984	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220347984C>T	ENST00000312358.7	+	30	5931	c.5799C>T	c.(5797-5799)ccC>ccT	p.P1933P	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1933					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AAGAGCTGCCCTCAGTGCCCC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													10	12	12			NA	NA	2		NA											NA				220347984		1860	4074	5934	SO:0001819	synonymous_variant			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195	10290	10290		Immunoglobulin superfamily / I-set domain containing	16901	protein-coding gene	gene with protein product		615950	aortic preferentially expressed gene 1	APEG1	NA	8663449, 10973969	Standard	NM_005876	NM_005876	NA	Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.5799C>T	2.37:g.220347984C>T		NA	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	37	CCDS42824.1																																																																																			SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130252.2		+	ENST00000312358.7	Silent	SNP	2 : 220347984 - 220347984 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	131	9
PLIN3	10226	broad.mit.edu	37	19	4847718	4847718	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4847718C>T	ENST00000592528.1	-	6	844	c.783G>A	c.(781-783)tcG>tcA	p.S261S	PLIN3_ENST00000221957.4_Silent_p.S273S|PLIN3_ENST00000585479.1_Silent_p.S273S			O60664	PLIN3_HUMAN	perilipin 3	273					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	TTAGGACCTGCGACAGCTGCA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,	0,4396		0,0,2198	22	19	20		819,783,819	-8.8	0	19		20	1,8595		0,1,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	PLIN3	NM_001164189.1,NM_001164194.1,NM_005817.4	,,	0,1,6495	TT,TC,CC	NA	0.0116,0.0,0.0077	,,	273/434,261/423,273/435	4847718	1,12991	2198	4298	6496	SO:0001819	synonymous_variant			AF051314	CCDS12137.1, CCDS59337.1, CCDS59338.1	19p13.3	2009-08-12	2009-08-12	2009-08-12		ENSG00000105355	10226	10226		Perilipins	16893	protein-coding gene	gene with protein product	cargo selection protein (mannose 6 phosphate receptor binding protein), placental protein 17, MPR-BINDING PROTEIN, 47-KD	602702	mannose-6-phosphate receptor binding protein 1	M6PRBP1	NA	9590177, 6856484, 19638644	Standard	NM_005817	NM_005817	NA	Approved	TIP47, PP17	uc002mbj.2	O60664		ENST00000592528.1:c.783G>A	19.37:g.4847718C>T		NA	A8K4Y9|Q53G77|Q9BS03|Q9UBD7|Q9UP92	37	CCDS59337.1																																																																																			PLIN3-007	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450437.1		-	ENST00000592528.1	Silent	SNP	19 : 4847718 - 4847718 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	76	14
NLRC5	84166	broad.mit.edu	37	16	57116360	57116360	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57116360G>A	ENST00000262510.6	+	49	5746	c.5521G>A	c.(5521-5523)Gcc>Acc	p.A1841T	NLRC5_ENST00000308149.7_Missense_Mutation_p.A1812T|NLRC5_ENST00000539144.1_Missense_Mutation_p.A1812T|NLRC5_ENST00000436936.1_3'UTR	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1841					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTGCGACATGGCCCAGCACCT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	94	98			NA	NA	16		NA											NA				57116360		2198	4300	6498	SO:0001583	missense			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853	84166	84166		Nucleotide-binding domain and leucine rich repeat containing	29933	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5, NOD-like receptor C5	613537			NA	12615073	Standard	NM_032206	NM_032206	NA	Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.5521G>A	16.37:g.57116360G>A	ENSP00000262510:p.Ala1841Thr	NA	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	37	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039218	0.75617	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000539144	T;T;T	0.54479	0.57;0.57;0.57	4.47	4.47	0.54385	.	0.898467	0.09038	N	0.857661	T	0.67202	0.2868	M	0.78344	2.41	0.80722	D	1	D	0.59767	0.986	P	0.53266	0.722	T	0.66192	-0.5985	10	0.56958	D	0.05	.	13.013	0.58741	0.0:0.0:1.0:0.0	.	1841	Q86WI3	NLRC5_HUMAN	T	1841;1812;1812	ENSP00000262510:A1841T;ENSP00000308886:A1812T;ENSP00000441727:A1812T	ENSP00000262510:A1841T	A	+	1	0	NLRC5	55673861	0.999000	0.42202	0.665000	0.29768	0.006000	0.05464	4.344000	0.59354	2.203000	0.70933	0.563000	0.77884	GCC	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257346.1		+	ENST00000262510.6	Missense_Mutation	SNP	16 : 57116360 - 57116360 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	647	97
KTI12	112970	broad.mit.edu	37	1	52499330	52499330	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52499330A>G	ENST00000371614.1	-	1	158	c.104T>C	c.(103-105)gTg>gCg	p.V35A	TXNDC12_ENST00000610127.1_3'UTR|TXNDC12_ENST00000371626.4_Intron|RP11-91A18.4_ENST00000425802.1_RNA	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	35							ATP binding			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						TGCGTCGTCCACCACGTACAC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	24	24			NA	NA	1		NA											NA				52499330		2203	4299	6502	SO:0001583	missense				CCDS562.1	1p32.3	2008-02-05			ENSG00000198841	ENSG00000198841	112970	112970			25160	protein-coding gene	gene with protein product					NA	11929532	Standard	NM_138417	NM_138417	NA	Approved	TOT4, MGC20419, SBBI81	uc001ctj.1	Q96EK9	OTTHUMG00000008630	ENST00000371614.1:c.104T>C	1.37:g.52499330A>G	ENSP00000360676:p.Val35Ala	NA		37	CCDS562.1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.813943	0.50527	.	.	ENSG00000198841	ENST00000371614	T	0.35048	1.33	5.07	5.07	0.68467	.	0.083649	0.47093	U	0.000257	T	0.45013	0.1321	M	0.67517	2.055	0.24520	N	0.994164	P	0.49090	0.919	P	0.49226	0.603	T	0.43343	-0.9397	10	0.44086	T	0.13	.	12.3295	0.55031	1.0:0.0:0.0:0.0	.	35	Q96EK9	KTI12_HUMAN	A	35	ENSP00000360676:V35A	ENSP00000360676:V35A	V	-	2	0	KTI12	52271918	1.000000	0.71417	0.423000	0.26634	0.039000	0.13416	4.761000	0.62243	2.127000	0.65507	0.533000	0.62120	GTG	KTI12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000023821.1		-	ENST00000371614.1	Missense_Mutation	SNP	1 : 52499330 - 52499330 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	193	14
SRRM2	23524	broad.mit.edu	37	16	2812267	2812267	+	Missense_Mutation	SNP	C	C	T	rs146283035		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2812267C>T	ENST00000301740.8	+	11	2287	c.1738C>T	c.(1738-1740)Cgc>Tgc	p.R580C		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	580	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AACACCAGCCCGCCGGGGCAG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG	0,4396		0,0,2198	33	39	37		1738	-0.7	0.3	16	dbSNP_134	37	1,8599	1.2+/-3.3	0,1,4299	no	missense	SRRM2	NM_016333.3	180	0,1,6497	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	580/2753	2812267	1,12995	2198	4300	6498	SO:0001583	missense			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978	23524	23524			16639	protein-coding gene	gene with protein product		606032			NA	10668804, 11004489	Standard		NM_016333	NA	Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.1738C>T	16.37:g.2812267C>T	ENSP00000301740:p.Arg580Cys	NA	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	37	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.807616	0.31961	0.0	1.16E-4	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	T	0.29397	1.57	5.91	-0.722	0.11184	.	0.000000	0.56097	D	0.000033	T	0.39332	0.1074	L	0.27053	0.805	0.22171	N	0.999313	D	0.89917	1.0	D	0.80764	0.994	T	0.46048	-0.9219	10	0.87932	D	0	-8.7656	15.3162	0.74081	0.6804:0.3196:0.0:0.0	.	580	Q9UQ35	SRRM2_HUMAN	C	580;580;545	ENSP00000301740:R580C	ENSP00000301740:R580C	R	+	1	0	SRRM2	2752268	0.020000	0.18652	0.280000	0.24747	0.992000	0.81027	0.103000	0.15292	-0.044000	0.13491	0.655000	0.94253	CGC	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000436411.1		+	ENST00000301740.8	Missense_Mutation	SNP	16 : 2812267 - 2812267 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	241	13
ANO5	203859	broad.mit.edu	37	11	22225378	22225378	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22225378C>T	ENST00000324559.8	+	2	386	c.69C>T	c.(67-69)taC>taT	p.Y23Y		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	23						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATATAGACTACTCTTTCCAAA	0.279		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	34	34			NA	NA	11		NA											NA				22225378		2163	4255	6418	SO:0001819	synonymous_variant			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714	203859	203859		Ion channels / Chloride channels : Calcium activated : Anoctamins	27337	protein-coding gene	gene with protein product		608662	transmembrane protein 16E, limb girdle muscular dystrophy 2L (autosomal recessive)	TMEM16E, LGMD2L	NA	15067359, 20096397, 24692353	Standard	NM_213599	NM_213599	NA	Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.69C>T	11.37:g.22225378C>T		NA		37	CCDS31444.1																																																																																			ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387615.1		+	ENST00000324559.8	Silent	SNP	11 : 22225378 - 22225378 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	85	10
RYR2	6262	broad.mit.edu	37	1	237796907	237796907	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237796907C>A	ENST00000366574.2	+	43	6902	c.6585C>A	c.(6583-6585)aaC>aaA	p.N2195K	RYR2_ENST00000542537.1_Missense_Mutation_p.N2179K|RYR2_ENST00000360064.6_Missense_Mutation_p.N2193K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2195	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGTGGCCAACTGTTGCCGTT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													251	243	246			NA	NA	1		NA											NA				237796907		1880	4101	5981	SO:0001583	missense			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626	6262	6262		Ion channels / Ryanodine receptors, EF-hand domain containing	10484	protein-coding gene	gene with protein product		180902	arrhythmogenic right ventricular dysplasia 2	ARVD2	NA	2380170, 8406504, 11159936	Standard	NM_001035	NM_001035	NA	Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6585C>A	1.37:g.237796907C>A	ENSP00000355533:p.Asn2195Lys	NA	Q15411|Q546N8|Q5T3P2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097651	0.56075	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.95137	-3.62;-3.62;-3.62	4.9	3.99	0.46301	Intracellular calcium-release channel (1);	0.074616	0.49916	D	0.000136	D	0.91153	0.7214	N	0.08118	0	0.80722	D	1	D	0.55800	0.973	P	0.61003	0.882	D	0.89626	0.3852	10	0.41790	T	0.15	-19.2027	8.245	0.31682	0.0:0.7581:0.0:0.2419	.	2195	Q92736	RYR2_HUMAN	K	2195;2193;2179	ENSP00000355533:N2195K;ENSP00000353174:N2193K;ENSP00000443798:N2179K	ENSP00000353174:N2193K	N	+	3	2	RYR2	235863530	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.273000	0.51623	1.180000	0.42898	0.563000	0.77884	AAC	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095402.2		+	ENST00000366574.2	Missense_Mutation	SNP	1 : 237796907 - 237796907 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1001	215
PRDM1	639	broad.mit.edu	37	6	106554877	106554877	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:106554877C>T	ENST00000369091.2	+	7	2106	c.1886C>T	c.(1885-1887)cCt>cTt	p.P629L	PRDM1_ENST00000369089.3_Missense_Mutation_p.P531L|PRDM1_ENST00000369096.4_Missense_Mutation_p.P665L			O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	665					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AAGGTGTGCCCTGCCAAGTTC	0.542		NA	D, N, Mis, F, S		DLBCL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		6	6q21	639	PR domain containing 1, with ZNF domain		L	0													115	116	116			NA	NA	6		NA											NA				106554877		2203	4300	6503	SO:0001583	missense				CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657	639	639		Zinc fingers, C2H2-type	9346	protein-coding gene	gene with protein product		603423		BLIMP1	NA	1851123	Standard		NM_001198	NA	Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369091.2:c.1886C>T	6.37:g.106554877C>T	ENSP00000358087:p.Pro629Leu	NA	B2REA6|E1P5E0	37		.	.	.	.	.	.	.	.	.	.	C	18.04	3.535259	0.64972	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000369089	T;T;T	0.07216	3.21;3.21;3.21	6.06	6.06	0.98353	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.06917	0.0176	L	0.35414	1.06	0.80722	D	1	B;B	0.28128	0.1;0.201	B;B	0.36092	0.155;0.217	T	0.24977	-1.0145	10	0.72032	D	0.01	-14.8534	20.6208	0.99490	0.0:1.0:0.0:0.0	.	531;665	Q86WM7;O75626	.;PRDM1_HUMAN	L	629;665;628;531	ENSP00000358087:P629L;ENSP00000358092:P665L;ENSP00000358085:P531L	ENSP00000358085:P531L	P	+	2	0	PRDM1	106661570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.045000	0.71020	2.882000	0.98803	0.655000	0.94253	CCT	PRDM1-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000327265.1		+	ENST00000369091.2	Missense_Mutation	SNP	6 : 106554877 - 106554877 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	832	157
ARFGEF1	10565	broad.mit.edu	37	8	68117027	68117027	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68117027G>A	ENST00000262215.3	-	35	5236	c.4847C>T	c.(4846-4848)gCc>gTc	p.A1616V	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.A1070V|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.A454V	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1616					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AATCAACAGGGCAGCAAACAA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	87	89			NA	NA	8		NA											NA				68117027		2203	4300	6503	SO:0001583	missense			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777	10565	10565			15772	protein-coding gene	gene with protein product		604141			NA	10212200, 8917509	Standard	NM_006421	NM_006421	NA	Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4847C>T	8.37:g.68117027G>A	ENSP00000262215:p.Ala1616Val	NA	Q9NV46|Q9UFV2|Q9UNL0	37	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936052	0.73442	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230	T;T;T	0.51817	0.69;0.69;0.69	6.07	6.07	0.98685	.	0.054916	0.64402	D	0.000001	T	0.41650	0.1168	L	0.29908	0.895	0.80722	D	1	B;B;B	0.19935	0.017;0.04;0.022	B;B;B	0.18561	0.022;0.022;0.01	T	0.10730	-1.0617	10	0.38643	T	0.18	.	20.2543	0.98414	0.0:0.0:1.0:0.0	.	1616;440;1070	Q9Y6D6;B3KMS9;E5RIF2	BIG1_HUMAN;.;.	V	1070;1616;454	ENSP00000428429:A1070V;ENSP00000262215:A1616V;ENSP00000430891:A454V	ENSP00000262215:A1616V	A	-	2	0	ARFGEF1	68279581	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.912000	0.87465	2.884000	0.98904	0.655000	0.94253	GCC	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379441.4		-	ENST00000262215.3	Missense_Mutation	SNP	8 : 68117027 - 68117027 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	564	123
PCDHGC5	56097	broad.mit.edu	37	5	140870231	140870231	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140870231C>T	ENST00000252087.1	+	1	1424	c.1424C>T	c.(1423-1425)aCt>aTt	p.T475I	PCDHGA12_ENST00000252085.3_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	475	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTTTGCACTGTGGCTGCC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	137	134			NA	NA	5		NA											NA				140870231		2203	4300	6503	SO:0001583	missense			AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764	56097	56097		Cadherins / Protocadherins : Clustered	8718	other	protocadherin		606306			NA	10380929	Standard	NM_018929	NM_018929	NA	Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.1424C>T	5.37:g.140870231C>T	ENSP00000252087:p.Thr475Ile	NA	Q9Y5C2	37	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.544687	0.27563	.	.	ENSG00000240764	ENST00000252087	T	0.02446	4.29	5.56	4.69	0.59074	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000017	T	0.06600	0.0169	M	0.74881	2.28	0.34109	D	0.662799	B;B	0.20261	0.043;0.014	B;B	0.23574	0.021;0.047	T	0.02075	-1.1218	10	0.66056	D	0.02	.	14.3616	0.66776	0.0:0.9284:0.0:0.0716	.	475;475	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	I	475	ENSP00000252087:T475I	ENSP00000252087:T475I	T	+	2	0	PCDHGC5	140850415	0.002000	0.14202	0.979000	0.43373	0.982000	0.71751	1.316000	0.33620	1.582000	0.49881	0.655000	0.94253	ACT	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251819.1		+	ENST00000252087.1	Missense_Mutation	SNP	5 : 140870231 - 140870231 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1137	217
SACS	26278	broad.mit.edu	37	13	23905812	23905812	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23905812C>A	ENST00000382292.3	-	9	12476	c.12203G>T	c.(12202-12204)aGc>aTc	p.S4068I	SACS_ENST00000402364.1_Missense_Mutation_p.S3318I|SACS_ENST00000382298.3_Missense_Mutation_p.S4068I			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4068					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTCACTTCTGCTGTGGGGAAT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	60	60			NA	NA	13		NA											NA				23905812		2203	4300	6503	SO:0001583	missense			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835	26278	26278		Heat shock proteins / DNAJ (HSP40)	10519	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 138	604490	spastic ataxia of Charlevoix-Saguenay (sacsin)		NA	10610707, 15057823, 21726565	Standard	NM_014363	NM_001278055	NA	Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.12203G>T	13.37:g.23905812C>A	ENSP00000371729:p.Ser4068Ile	NA	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335478	0.81801	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.89552	-2.38;-2.53;-2.38	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.90985	0.7165	L	0.29908	0.895	0.58432	D	0.999999	D	0.71674	0.998	D	0.64687	0.928	D	0.92305	0.5853	10	0.87932	D	0	.	18.9676	0.92702	0.0:1.0:0.0:0.0	.	4068	Q9NZJ4	SACS_HUMAN	I	4068;3318;4068	ENSP00000371729:S4068I;ENSP00000385844:S3318I;ENSP00000371735:S4068I	ENSP00000371729:S4068I	S	-	2	0	SACS	22803812	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.754000	0.85163	2.462000	0.83206	0.655000	0.94253	AGC	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044148.3		-	ENST00000382292.3	Missense_Mutation	SNP	13 : 23905812 - 23905812 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	64
AGAP1	116987	broad.mit.edu	37	2	236945321	236945321	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:236945321C>A	ENST00000304032.8	+	14	2342	c.1762C>A	c.(1762-1764)Ctg>Atg	p.L588M	AGAP1_ENST00000336665.5_Missense_Mutation_p.L535M|AGAP1_ENST00000409538.1_Missense_Mutation_p.L800M|AGAP1_ENST00000428334.2_Missense_Mutation_p.L427M	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	NA	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GAGCCAGATCCTGGCCAGCCT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	80	79			NA	NA	2		NA											NA				236945321		2203	4300	6503	SO:0001583	missense			AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985	116987	116987		ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing	16922	protein-coding gene	gene with protein product		608651	centaurin, gamma 2	CENTG2	NA		Standard	NM_014914	NM_001037131	NA	Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.1762C>A	2.37:g.236945321C>A	ENSP00000307634:p.Leu588Met	NA	B2RTX7|Q541S5|Q6P9D7|Q9NV93	37	CCDS33408.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.17|17.17	3.322237|3.322237	0.60634|0.60634	.|.	.|.	ENSG00000157985|ENSG00000157985	ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334|ENST00000448025;ENST00000418654	T;T;T;T|.	0.18502|.	2.21;2.21;2.21;2.21|.	4.75|4.75	3.87|3.87	0.44632|0.44632	Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|T	0.57533|0.57533	0.2060|0.2060	L|L	0.50333|0.50333	1.59|1.59	0.50467|0.50467	D|D	0.999879|0.999879	D;D|.	0.76494|.	0.994;0.999|.	D;D|.	0.74674|.	0.984;0.959|.	T|T	0.53542|0.53542	-0.8424|-0.8424	10|5	0.48119|.	T|.	0.1|.	.|.	8.9764|8.9764	0.35939|0.35939	0.0:0.7657:0.0:0.2343|0.0:0.7657:0.0:0.2343	.|.	535;588|.	Q9UPQ3-2;Q9UPQ3|.	.;AGAP1_HUMAN|.	M|H	588;535;800;427|246;140	ENSP00000307634:L588M;ENSP00000338378:L535M;ENSP00000386897:L800M;ENSP00000411824:L427M|.	ENSP00000307634:L588M|.	L|P	+|+	1|2	2|0	AGAP1|AGAP1	236610060|236610060	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.953000|0.953000	0.61014|0.61014	2.640000|2.640000	0.46579|0.46579	1.140000|1.140000	0.42260|0.42260	-0.136000|-0.136000	0.14681|0.14681	CTG|CCT	AGAP1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257076.2		+	ENST00000304032.8	Missense_Mutation	SNP	2 : 236945321 - 236945321 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	820	60
OPN3	23596	broad.mit.edu	37	1	241757917	241757917	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241757917G>T	ENST00000366554.2	-	4	1128	c.1022C>A	c.(1021-1023)gCt>gAt	p.A341D	KMO_ENST00000366557.4_3'UTR|OPN3_ENST00000469376.1_5'UTR|KMO_ENST00000366559.4_3'UTR|OPN3_ENST00000331838.5_Missense_Mutation_p.A262D	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	341					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TTCACTTCCAGCTGCTGGTAG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	123	123			NA	NA	1		NA											NA				241757917		2203	4300	6503	SO:0001583	missense			AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277	23596	23596		GPCR / Class A : Opsin receptors	14007	protein-coding gene	gene with protein product	panopsin, protein phosphatase 1, regulatory subunit 116	606695	encephalopsin	ECPN	NA	10234000, 11401433	Standard	NM_014322	NM_014322	NA	Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691	ENST00000366554.2:c.1022C>A	1.37:g.241757917G>T	ENSP00000355512:p.Ala341Asp	NA	Q8IX08|Q9Y344	37	CCDS31072.1	.	.	.	.	.	.	.	.	.	.	G	9.982	1.228311	0.22542	.	.	ENSG00000054277	ENST00000366554;ENST00000331838	T;T	0.69561	-0.41;-0.0	4.11	-2.95	0.05564	.	0.979536	0.08373	N	0.955721	T	0.44891	0.1315	N	0.24115	0.695	0.09310	N	1	B	0.24258	0.1	B	0.24006	0.05	T	0.30208	-0.9986	10	0.49607	T	0.09	.	1.9055	0.03276	0.3059:0.1376:0.4074:0.1491	.	341	Q9H1Y3	OPN3_HUMAN	D	341;262	ENSP00000355512:A341D;ENSP00000328018:A262D	ENSP00000328018:A262D	A	-	2	0	OPN3	239824540	0.004000	0.15560	0.000000	0.03702	0.713000	0.41058	0.437000	0.21543	-0.649000	0.05430	0.650000	0.86243	GCT	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095713.1		-	ENST00000366554.2	Missense_Mutation	SNP	1 : 241757917 - 241757917 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	802	155
APOB	338	broad.mit.edu	37	2	21229127	21229127	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21229127A>C	ENST00000233242.1	-	26	10740	c.10613T>G	c.(10612-10614)aTt>aGt	p.I3538S		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3538					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GATATCATCAATTTTGGAAGT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	107	105			NA	NA	2		NA											NA				21229127		2203	4300	6503	SO:0001583	missense			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674	338	338		Apolipoproteins	603	protein-coding gene	gene with protein product		107730	apolipoprotein B (including Ag(x) antigen)		NA		Standard		NM_000384	NA	Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10613T>G	2.37:g.21229127A>C	ENSP00000233242:p.Ile3538Ser	NA	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	A	10.82	1.456899	0.26161	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.78595	-1.19	5.85	4.64	0.57946	.	0.838313	0.10117	N	0.713988	T	0.65883	0.2734	N	0.22421	0.69	0.34222	D	0.675498	B	0.29378	0.243	B	0.25987	0.065	T	0.67264	-0.5714	10	0.87932	D	0	.	8.7714	0.34735	0.7795:0.0:0.2205:0.0	.	3538	P04114	APOB_HUMAN	S	3538	ENSP00000233242:I3538S	ENSP00000233242:I3538S	I	-	2	0	APOB	21082632	0.000000	0.05858	0.010000	0.14722	0.345000	0.29048	0.656000	0.24948	0.964000	0.38108	0.533000	0.62120	ATT	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207571.1		-	ENST00000233242.1	Missense_Mutation	SNP	2 : 21229127 - 21229127 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	824	195
UPF2	26019	broad.mit.edu	37	10	11984744	11984744	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11984744C>T	ENST00000356352.2	-	17	3771	c.3298G>A	c.(3298-3300)Ggt>Agt	p.G1100S	UPF2_ENST00000357604.5_Missense_Mutation_p.G1100S|UPF2_ENST00000397053.2_Missense_Mutation_p.G1100S			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1100	Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TTAAGTCCACCGCCTTTAATC	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	120	119			NA	NA	10		NA											NA				11984744		2203	4300	6503	SO:0001583	missense			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461	26019	26019			17854	protein-coding gene	gene with protein product	smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)	605529			NA	11073994, 11113196	Standard		NM_080599	NA	Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.3298G>A	10.37:g.11984744C>T	ENSP00000348708:p.Gly1100Ser	NA	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	37	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.710862	0.68730	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053;ENST00000359268	T;T;T	0.42131	0.98;0.98;0.98	5.1	5.1	0.69264	Up-frameshift suppressor 2 (1);	0.000000	0.85682	D	0.000000	T	0.56963	0.2021	L	0.52573	1.65	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.47262	-0.9131	10	0.09338	T	0.73	.	18.8593	0.92266	0.0:1.0:0.0:0.0	.	1100	Q9HAU5	RENT2_HUMAN	S	1100;1100;1100;5	ENSP00000348708:G1100S;ENSP00000350221:G1100S;ENSP00000380244:G1100S	ENSP00000348708:G1100S	G	-	1	0	UPF2	12024750	1.000000	0.71417	0.999000	0.59377	0.822000	0.46500	7.202000	0.77856	2.535000	0.85469	0.557000	0.71058	GGT	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046783.1		-	ENST00000356352.2	Missense_Mutation	SNP	10 : 11984744 - 11984744 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	387	66
PRDM5	11107	broad.mit.edu	37	4	121702402	121702402	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:121702402A>G	ENST00000264808.3	-	12	1579	c.1339T>C	c.(1339-1341)Tta>Cta	p.L447L	PRDM5_ENST00000515109.1_Silent_p.L416L|PRDM5_ENST00000428209.2_Silent_p.L416L	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	447					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGAACATTTAATGTATCCTTC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	119	129			NA	NA	4		NA											NA				121702402		2203	4300	6503	SO:0001819	synonymous_variant			AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738	11107	11107		Zinc fingers, C2H2-type	9349	protein-coding gene	gene with protein product		614161			NA		Standard		XM_005262706	NA	Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.1339T>C	4.37:g.121702402A>G		NA	Q0VAJ0|Q6NXQ7	37	CCDS3716.1																																																																																			PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256528.2		-	ENST00000264808.3	Silent	SNP	4 : 121702402 - 121702402 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	46
AZGP1	563	broad.mit.edu	37	7	99564826	99564826	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99564826C>A	ENST00000292401.4	-	4	833	c.697G>T	c.(697-699)Ggg>Tgg	p.G233W	AZGP1_ENST00000483612.1_5'UTR|AZGP1_ENST00000411734.1_3'UTR	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	233	Ig-like C1-type.				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TCAATTTTCCCTGGGTAGAAG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	37	37			NA	NA	7		NA											NA				99564826		2203	4295	6498	SO:0001583	missense			BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862	563	563		Immunoglobulin superfamily / C1-set domain containing	910	protein-coding gene	gene with protein product		194460	alpha-2-glycoprotein 1, zinc		NA	2049092	Standard	NM_001185	NM_001185	NA	Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.697G>T	7.37:g.99564826C>A	ENSP00000292401:p.Gly233Trp	NA	D6W5T8|O60386|Q5XKQ4|Q8N4N0	37	CCDS5680.1	.	.	.	.	.	.	.	.	.	.	C	3.922	-0.017950	0.07681	.	.	ENSG00000160862	ENST00000292401;ENST00000419575	T	0.14766	2.48	2.34	0.137	0.14787	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.824850	0.03891	U	0.278723	T	0.30634	0.0771	L	0.57536	1.79	0.09310	N	1	D	0.69078	0.997	D	0.67382	0.951	T	0.12016	-1.0564	10	0.87932	D	0	.	5.775	0.18273	0.0:0.4082:0.395:0.1968	.	233	P25311	ZA2G_HUMAN	W	233;83	ENSP00000292401:G233W	ENSP00000292401:G233W	G	-	1	0	AZGP1	99402762	0.000000	0.05858	0.080000	0.20451	0.126000	0.20510	-0.163000	0.09997	-0.146000	0.11274	-0.802000	0.03209	GGG	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059387.4		-	ENST00000292401.4	Missense_Mutation	SNP	7 : 99564826 - 99564826 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	232	29
LPIN2	9663	broad.mit.edu	37	18	2937906	2937906	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:2937906C>T	ENST00000261596.4	-	7	1190	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	318					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		ACAGTGTCTTCCATGGAAGCA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													173	155	161			NA	NA	18		NA											NA				2937906		2203	4300	6503	SO:0001583	missense			D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577	9663	9663			14450	protein-coding gene	gene with protein product		605519			NA	11138012, 9039502	Standard	NM_014646	NM_014646	NA	Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.952G>A	18.37:g.2937906C>T	ENSP00000261596:p.Glu318Lys	NA	A7MD25|D3DUH3	37	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	C	3.970	-0.008567	0.07727	.	.	ENSG00000101577	ENST00000261596	T	0.80214	-1.35	5.96	5.96	0.96718	.	1.088990	0.06752	N	0.780147	T	0.66954	0.2842	N	0.16656	0.425	0.29070	N	0.883339	B	0.02656	0.0	B	0.01281	0.0	T	0.54774	-0.8243	10	0.09590	T	0.72	.	9.2797	0.37720	0.0:0.8811:0.0:0.1189	.	318	Q92539	LPIN2_HUMAN	K	318	ENSP00000261596:E318K	ENSP00000261596:E318K	E	-	1	0	LPIN2	2927906	0.662000	0.27439	0.713000	0.30519	0.973000	0.67179	2.963000	0.49184	2.832000	0.97577	0.655000	0.94253	GAA	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254363.2		-	ENST00000261596.4	Missense_Mutation	SNP	18 : 2937906 - 2937906 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	610	141
KDM5B	10765	broad.mit.edu	37	1	202700144	202700144	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202700144G>A	ENST00000367265.3	-	25	5233	c.4069C>T	c.(4069-4071)Cag>Tag	p.Q1357*	KDM5B_ENST00000367264.2_Nonsense_Mutation_p.Q1393*	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1357					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AGGGATACCTGGAGCAGCTGG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	84	87			NA	NA	1		NA											NA				202700144		2203	4300	6503	SO:0001587	stop_gained			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139	10765	10765		Chromatin-modifying enzymes / K-demethylases, Zinc fingers, PHD-type	18039	protein-coding gene	gene with protein product	cancer/testis antigen 31, protein phosphatase 1, regulatory subunit 98	605393	Jumonji, AT rich interactive domain 1B (RBP2-like), jumonji, AT rich interactive domain 1B	JARID1B	NA	11483573, 11478881	Standard	NM_006618	NM_006618	NA	Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.4069C>T	1.37:g.202700144G>A	ENSP00000356234:p.Gln1357*	NA	O95811|Q15752|Q9Y3Q5	37	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	G	48	14.013494	0.99775	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	.	.	.	6.14	6.14	0.99180	.	0.100675	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-9.1782	20.4548	0.99139	0.0:0.0:1.0:0.0	.	.	.	.	X	1357;1199;1393;1199	.	ENSP00000235790:Q1199X	Q	-	1	0	KDM5B	200966767	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.597000	0.74118	2.937000	0.99478	0.650000	0.86243	CAG	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000099184.2		-	ENST00000367265.3	Nonsense_Mutation	SNP	1 : 202700144 - 202700144 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	50
ATP2B1	490	broad.mit.edu	37	12	90024380	90024380	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:90024380G>A	ENST00000428670.3	-	6	1286	c.830C>T	c.(829-831)gCt>gTt	p.A277V	ATP2B1_ENST00000359142.3_Missense_Mutation_p.A277V|ATP2B1_ENST00000393164.2_Missense_Mutation_p.A20V|ATP2B1_ENST00000261173.2_Missense_Mutation_p.A277V|ATP2B1_ENST00000348959.3_Missense_Mutation_p.A277V			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	277					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TACACCTACAGCTGTAACTAC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	87	89			NA	NA	12		NA											NA				90024380		2203	4297	6500	SO:0001583	missense			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	490	490	3.6.3.8	ATPases / P-type	814	protein-coding gene	gene with protein product	plasma membrane calcium-transporting ATPase 1	108731			NA	1674727	Standard	NM_001682	NM_001682	NA	Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.830C>T	12.37:g.90024380G>A	ENSP00000392043:p.Ala277Val	NA	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	37	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	G	35	5.455931	0.96223	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99;-2.99	5.48	5.48	0.80851	.	0.104870	0.64402	D	0.000003	D	0.97034	0.9031	M	0.91717	3.235	0.80722	D	1	D;D	0.71674	0.998;0.987	D;D	0.80764	0.994;0.948	D	0.97468	1.0039	9	.	.	.	-21.5485	19.35	0.94379	0.0:0.0:1.0:0.0	.	277;277	P20020-3;P20020-2	.;.	V	277;277;277;277;20	ENSP00000261173:A277V;ENSP00000343599:A277V;ENSP00000352054:A277V;ENSP00000392043:A277V;ENSP00000376869:A20V	.	A	-	2	0	ATP2B1	88548511	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.799000	0.99117	2.574000	0.86865	0.650000	0.86243	GCT	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406653.1		-	ENST00000428670.3	Missense_Mutation	SNP	12 : 90024380 - 90024380 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	333	46
WDR37	22884	broad.mit.edu	37	10	1132252	1132252	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1132252G>C	ENST00000358220.1	+	7	703	c.559G>C	c.(559-561)Gag>Cag	p.E187Q	WDR37_ENST00000381329.1_Missense_Mutation_p.E187Q|WDR37_ENST00000263150.4_Missense_Mutation_p.E187Q			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	187										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		GTGGAGCATAGAGACAGGGAA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	84	88			NA	NA	10		NA											NA				1132252		2203	4300	6503	SO:0001583	missense			AB023199	CCDS7057.1	10p15.3	2013-01-09			ENSG00000047056	ENSG00000047056	22884	22884		WD repeat domain containing	31406	protein-coding gene	gene with protein product					NA	10231032, 11230166	Standard	NM_014023	NM_014023	NA	Approved	KIAA0982	uc001igf.1	Q9Y2I8	OTTHUMG00000017540	ENST00000358220.1:c.559G>C	10.37:g.1132252G>C	ENSP00000350954:p.Glu187Gln	NA	D3DRQ7|Q5SW03|Q9NTJ6	37	CCDS7057.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.850432	0.51270	.	.	ENSG00000047056	ENST00000358220;ENST00000381329;ENST00000263150;ENST00000436154	T;D;T;D	0.81996	4.98;-1.56;4.98;-1.56	5.62	5.62	0.85841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.047953	0.85682	N	0.000000	T	0.78874	0.4352	L	0.43598	1.365	0.80722	D	1	B;P;B	0.43477	0.361;0.808;0.098	B;B;B	0.39706	0.068;0.307;0.031	T	0.76953	-0.2768	10	0.26408	T	0.33	.	18.3995	0.90511	0.0:0.0:1.0:0.0	.	187;187;187	A8K976;Q9Y2I8;E7EQ49	.;WDR37_HUMAN;.	Q	187;187;187;154	ENSP00000350954:E187Q;ENSP00000370730:E187Q;ENSP00000263150:E187Q;ENSP00000404346:E154Q	ENSP00000263150:E187Q	E	+	1	0	WDR37	1122252	1.000000	0.71417	0.994000	0.49952	0.210000	0.24377	9.145000	0.94634	2.637000	0.89404	0.655000	0.94253	GAG	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046418.1		+	ENST00000358220.1	Missense_Mutation	SNP	10 : 1132252 - 1132252 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	251	44
MAVS	57506	broad.mit.edu	37	20	3842924	3842924	+	Missense_Mutation	SNP	G	G	A	rs150835407		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3842924G>A	ENST00000428216.2	+	5	617	c.489G>A	c.(487-489)acG>acA	p.T163T	MAVS_ENST00000416600.2_Silent_p.T22T|MAVS_ENST00000358134.6_Missense_Mutation_p.A106T	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	163					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCCTGCAGACGCTCAGCCCCA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	51	50			NA	NA	20		NA											NA				3842924		2203	4300	6503	SO:0001819	synonymous_variant			DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888	57506	57506			29233	protein-coding gene	gene with protein product	virus-induced signaling adaptor, IFN-B promoter stimulator 1, CARD adaptor inducing IFN-beta	609676			NA	16125763, 16153868	Standard	NM_020746	NM_020746	NA	Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.489G>A	20.37:g.3842924G>A		NA	Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	37	CCDS33437.1	.	.	.	.	.	.	.	.	.	.	G	8.587	0.883678	0.17467	.	.	ENSG00000088888	ENST00000358134	T	0.11495	2.77	3.56	-3.22	0.05125	.	.	.	.	.	T	0.04588	0.0125	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44787	-0.9305	8	0.17369	T	0.5	-0.588	4.4783	0.11755	0.3447:0.3412:0.3141:0.0	.	106	B2BD34	.	T	106	ENSP00000350852:A106T	ENSP00000350852:A106T	A	+	1	0	MAVS	3790924	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.082000	0.14847	-0.708000	0.05015	-1.004000	0.02495	GCT	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077784.3		+	ENST00000428216.2	Silent	SNP	20 : 3842924 - 3842924 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	316	57
SECISBP2L	9728	broad.mit.edu	37	15	49288703	49288703	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49288703C>A	ENST00000559471.1	-	17	2747	c.2484G>T	c.(2482-2484)gaG>gaT	p.E828D	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.E783D	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	828										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CCTCAGCCTGCTCCTGTTCCA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													261	241	247			NA	NA	15		NA											NA				49288703		2197	4295	6492	SO:0001583	missense			BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593	9728	9728			28997	protein-coding gene	gene with protein product		615756			NA		Standard	NM_014701	NM_001193489	NA	Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.2484G>T	15.37:g.49288703C>A	ENSP00000453854:p.Glu828Asp	NA	Q8N767	37	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820874	0.71028	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	D	0.92545	-3.06	4.94	0.893	0.19236	.	0.000000	0.85682	D	0.000000	D	0.90950	0.7155	L	0.29908	0.895	0.39808	D	0.972668	D;D	0.71674	0.996;0.998	P;D	0.63488	0.824;0.915	D	0.89300	0.3625	10	0.72032	D	0.01	.	9.1906	0.37197	0.0:0.5318:0.0:0.4682	.	828;783	Q93073;Q93073-2	SBP2L_HUMAN;.	D	783;828	ENSP00000261847:E783D	ENSP00000261847:E783D	E	-	3	2	SECISBP2L	47075995	0.989000	0.36119	0.999000	0.59377	0.992000	0.81027	0.302000	0.19192	0.288000	0.22398	0.650000	0.86243	GAG	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417277.1		-	ENST00000559471.1	Missense_Mutation	SNP	15 : 49288703 - 49288703 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1167	29
KIAA1467	57613	broad.mit.edu	37	12	13208820	13208820	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13208820A>G	ENST00000197268.8	+	2	493	c.373A>G	c.(373-375)Atc>Gtc	p.I125V		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	125						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TGCTTTCCTGATCCCCTGTCC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	52	54			NA	NA	12		NA											NA				13208820		2203	4300	6503	SO:0001583	missense			AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444	57613	57613			29288	protein-coding gene	gene with protein product					NA	10819331	Standard	NM_020853	XM_005253450	NA	Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.373A>G	12.37:g.13208820A>G	ENSP00000197268:p.Ile125Val	NA	Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	37	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	a	15.87	2.959419	0.53400	.	.	ENSG00000084444	ENST00000197268	T	0.21543	2.0	5.33	4.2	0.49525	Quinonprotein alcohol dehydrogenase-like (1);	0.120006	0.56097	D	0.000024	T	0.21631	0.0521	M	0.66939	2.045	0.34721	D	0.728697	P	0.38223	0.623	B	0.36186	0.219	T	0.30592	-0.9973	10	0.28530	T	0.3	-24.0397	10.5842	0.45273	0.9248:0.0:0.0752:0.0	.	125	A2RU67	K1467_HUMAN	V	125	ENSP00000197268:I125V	ENSP00000197268:I125V	I	+	1	0	KIAA1467	13100087	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.481000	0.60250	2.020000	0.59435	0.487000	0.48397	ATC	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401007.1		+	ENST00000197268.8	Missense_Mutation	SNP	12 : 13208820 - 13208820 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	381	78
TTN	7273	broad.mit.edu	37	2	179612581	179612581	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179612581G>A	ENST00000589042.1	-	47	11536				TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.T4849I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	NA							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGAATGTTTGTACTTATTTG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	51	52			NA	NA	2		NA											NA				179612581		2203	4299	6502	SO:0001627	intron_variant			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.11311+5269C>T	2.37:g.179612581G>A		NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973168	0.34848	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.57273	0.41	6.05	-0.825	0.10809	.	.	.	.	.	T	0.26448	0.0646	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.17623	-1.0363	9	0.66056	D	0.02	.	2.4883	0.04604	0.1071:0.2171:0.3843:0.2915	.	4849	Q8WZ42-6	.	I	4849;163	ENSP00000354117:T4849I	ENSP00000304714:T163I	T	-	2	0	TTN	179320826	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.200000	0.17257	-0.052000	0.13311	-0.995000	0.02519	ACA	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Intron	SNP	2 : 179612581 - 179612581 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	90
CACNA2D3	55799	broad.mit.edu	37	3	55021769	55021769	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:55021769C>T	ENST00000474759.1	+	31	2727	c.2679C>T	c.(2677-2679)ggC>ggT	p.G893G	CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000415676.2_Silent_p.G893G|CACNA2D3_ENST00000288197.5_Silent_p.G893G|CACNA2D3_ENST00000490478.1_Silent_p.G799G	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	893						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TAACAATGGGCTCCTTTAAAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	120	121			NA	NA	3		NA											NA				55021769		1820	4079	5899	SO:0001819	synonymous_variant			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445	55799	55799		Calcium channel subunits	15460	protein-coding gene	gene with protein product		606399			NA	11245980	Standard		XM_005265318	NA	Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.2679C>T	3.37:g.55021769C>T		NA	B2RPL6|Q9NY16|Q9NY18	37	CCDS54598.1																																																																																			CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351402.1		+	ENST00000474759.1	Silent	SNP	3 : 55021769 - 55021769 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	171	26
FAM179B	23116	broad.mit.edu	37	14	45432455	45432455	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45432455C>A	ENST00000361462.2	+	1	1014	c.831C>A	c.(829-831)ttC>ttA	p.F277L	FAM179B_ENST00000361577.3_Missense_Mutation_p.F277L|FAM179B_ENST00000382233.2_Missense_Mutation_p.F277L			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	277							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AGACAGCTTTCTCCGCACTTC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	89	87			NA	NA	14		NA											NA				45432455		2203	4300	6503	SO:0001583	missense			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718	23116	23116			19959	protein-coding gene	gene with protein product			KIAA0423	KIAA0423	NA		Standard	XM_113781	XM_005267451	NA	Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361462.2:c.831C>A	14.37:g.45432455C>A	ENSP00000354917:p.Phe277Leu	NA	Q68D66|Q6PG27	37		.	.	.	.	.	.	.	.	.	.	C	14.43	2.534101	0.45073	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.55052	0.54;0.54;0.54	5.05	3.07	0.35406	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.49305	D	0.000154	T	0.50309	0.1608	N	0.19112	0.55	0.29801	N	0.83247	B;D;D;B	0.58268	0.119;0.982;0.979;0.119	B;D;D;B	0.68943	0.067;0.961;0.92;0.067	T	0.43310	-0.9399	10	0.40728	T	0.16	-9.5516	6.3306	0.21269	0.0:0.7762:0.0:0.2238	.	277;277;277;277	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	L	277	ENSP00000355045:F277L;ENSP00000354917:F277L;ENSP00000371668:F277L	ENSP00000354917:F277L	F	+	3	2	FAM179B	44502205	0.991000	0.36638	1.000000	0.80357	0.985000	0.73830	0.604000	0.24164	1.354000	0.45846	0.561000	0.74099	TTC	FAM179B-002	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000276792.1		+	ENST00000361462.2	Missense_Mutation	SNP	14 : 45432455 - 45432455 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	638	112
SPRYD7	57213	broad.mit.edu	37	13	50489247	50489247	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50489247C>T	ENST00000361840.3	-	5	647	c.543G>A	c.(541-543)acG>acA	p.T181T	SPRYD7_ENST00000378195.2_Silent_p.T142T	NM_020456.2	NP_065189.1	Q5W111	SPRY7_HUMAN	SPRY domain containing 7	181	B30.2/SPRY.									haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)	6						CAGGTGGAGGCGTATGATAAA	0.284		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	54	53			NA	NA	13		NA											NA				50489247		2203	4296	6499	SO:0001819	synonymous_variant			AF055016	CCDS9422.1, CCDS45046.1	13q14.3	2011-05-25	2011-05-25	2011-05-25	ENSG00000123178	ENSG00000123178	57213	57213			14297	protein-coding gene	gene with protein product		607866	chromosome 13 open reading frame 1	C13orf1	NA	11306461, 11771308	Standard	NM_020456	NM_020456	NA	Approved	CLLD6	uc001vdl.2	Q5W111	OTTHUMG00000016924	ENST00000361840.3:c.543G>A	13.37:g.50489247C>T		NA	A8K3G1|O60648|Q8TBG8|Q96T69	37	CCDS9422.1																																																																																			SPRYD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044942.2		-	ENST00000361840.3	Silent	SNP	13 : 50489247 - 50489247 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	341	48
FAHD1	81889	broad.mit.edu	37	16	1877337	1877337	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1877337G>T	ENST00000382666.4	+	1	370	c.107G>T	c.(106-108)aGc>aTc	p.S36I	FAHD1_ENST00000382668.4_Missense_Mutation_p.S36I|FAHD1_ENST00000427358.2_Missense_Mutation_p.S36I	NM_001018104.2	NP_001018114.1	Q6P587	FAHD1_HUMAN	fumarylacetoacetate hydrolase domain containing 1	36						mitochondrion	hydrolase activity|metal ion binding|protein binding			NS(1)|large_intestine(1)|liver(1)|ovary(2)|urinary_tract(1)	6						GAGATGCGCAGCGCGGTGTTG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	48	54			NA	NA	16		NA											NA				1877337		2199	4300	6499	SO:0001583	missense			BC063017	CCDS10448.1, CCDS32367.1, CCDS45380.1	16p13.3	2011-10-21	2004-08-19	2004-08-26	ENSG00000180185	ENSG00000180185	81889	81889			14169	protein-coding gene	gene with protein product			chromosome 16 open reading frame 36	C16orf36	NA	21878618	Standard	NM_001018104	NM_001018104	NA	Approved	DKFZP566J2046	uc002cnd.3	Q6P587	OTTHUMG00000128663	ENST00000382666.4:c.107G>T	16.37:g.1877337G>T	ENSP00000372112:p.Ser36Ile	NA	B1AK41|Q6FIC7|Q96RY1|Q9H0N6	37	CCDS32367.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633616	0.67015	.	.	ENSG00000180185	ENST00000382668;ENST00000382666;ENST00000427358	T;T;T	0.39997	1.05;1.05;1.05	4.71	4.71	0.59529	Fumarylacetoacetase, C-terminal-related (2);Fumarylacetoacetase, C-terminal (1);	0.111145	0.64402	D	0.000012	T	0.30198	0.0757	L	0.28400	0.85	0.39297	D	0.964838	B;B;B	0.30973	0.108;0.302;0.131	B;B;B	0.29663	0.037;0.105;0.063	T	0.25710	-1.0124	10	0.62326	D	0.03	.	10.0609	0.42275	0.0932:0.0:0.9068:0.0	.	36;36;36	Q6P587-2;B1AK40;Q6P587	.;.;FAHD1_HUMAN	I	36	ENSP00000372114:S36I;ENSP00000372112:S36I;ENSP00000398053:S36I	ENSP00000372112:S36I	S	+	2	0	FAHD1	1817338	1.000000	0.71417	0.915000	0.36163	0.984000	0.73092	5.125000	0.64715	2.458000	0.83093	0.655000	0.94253	AGC	FAHD1-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250552.1		+	ENST00000382666.4	Missense_Mutation	SNP	16 : 1877337 - 1877337 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	318	56
VPRBP	9730	broad.mit.edu	37	3	51457286	51457286	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51457286C>T	ENST00000335891.5	-	7	1800	c.1791G>A	c.(1789-1791)gcG>gcA	p.A597A				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1046					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		AGTTTATTGGCGCTTGCCGCC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	142	144			NA	NA	3		NA											NA				51457286		1932	4137	6069	SO:0001819	synonymous_variant			AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041	9730	9730		DDB1 and CUL4 associated factors	30911	protein-coding gene	gene with protein product	DDB1 and CUL4 associated factor 1				NA	8195203, 11223251	Standard	NM_014703	NM_014703	NA	Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.1791G>A	3.37:g.51457286C>T		NA	Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	37																																																																																				VPRBP-201	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding			-	ENST00000335891.5	Silent	SNP	3 : 51457286 - 51457286 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	584	123
TMEM140	55281	broad.mit.edu	37	7	134849279	134849279	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134849279T>C	ENST00000275767.3	+	2	309	c.86T>C	c.(85-87)tTt>tCt	p.F29S	C7orf49_ENST00000459937.1_Intron	NM_018295.3	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140	NA			F -> L (in dbSNP:rs292501).			integral to membrane				kidney(1)|large_intestine(2)|lung(2)	5						TGCCTGATGTTTTACGCTCTT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	144	151			NA	NA	7		NA											NA				134849279		2203	4300	6503	SO:0001583	missense			AK001862	CCDS5837.1	7q33	2006-03-17			ENSG00000146859	ENSG00000146859	55281	55281			21870	protein-coding gene	gene with protein product					NA		Standard	NM_018295	NM_018295	NA	Approved	FLJ11000	uc003vsi.3	Q9NV12	OTTHUMG00000155413	ENST00000275767.3:c.86T>C	7.37:g.134849279T>C	ENSP00000275767:p.Phe29Ser	NA	A4D1P9|Q8WUC3	37	CCDS5837.1	.	.	.	.	.	.	.	.	.	.	T	9.346	1.064210	0.20067	.	.	ENSG00000146859	ENST00000275767;ENST00000456488	T	0.17854	2.25	5.68	4.5	0.54988	.	0.413393	0.23396	N	0.048631	T	0.17662	0.0424	L	0.53249	1.67	0.25660	N	0.98601	B	0.28783	0.222	B	0.30251	0.113	T	0.13308	-1.0514	10	0.40728	T	0.16	-26.4586	9.709	0.40233	0.0:0.0809:0.0:0.9191	.	29	Q9NV12	TM140_HUMAN	S	29	ENSP00000275767:F29S	ENSP00000275767:F29S	F	+	2	0	TMEM140	134499819	0.225000	0.23685	0.963000	0.40424	0.010000	0.07245	1.083000	0.30815	0.940000	0.37473	0.460000	0.39030	TTT	TMEM140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340017.2		+	ENST00000275767.3	Missense_Mutation	SNP	7 : 134849279 - 134849279 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	797	159
PSPC1	55269	broad.mit.edu	37	13	20325517	20325517	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20325517C>A	ENST00000338910.4	-	4	1020	c.861G>T	c.(859-861)aaG>aaT	p.K287N		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	287	Sufficient for paraspeckles localization.|Sufficient for perinucleolar caps localization and interaction with NONO.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		CACGCTGCTGCTTTTCCATTT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													177	161	166			NA	NA	13		NA											NA				20325517		1909	4126	6035	SO:0001583	missense			AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390	55269	55269		RNA binding motif (RRM) containing	20320	protein-coding gene	gene with protein product		612408			NA	11790299	Standard		NM_001042414	NA	Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.861G>T	13.37:g.20325517C>A	ENSP00000343966:p.Lys287Asn	NA	Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	37	CCDS41870.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409324	0.42715	.	.	ENSG00000121390	ENST00000338910;ENST00000422828	T	0.21543	2.0	4.83	3.99	0.46301	.	0.000000	0.85682	D	0.000000	T	0.27241	0.0668	M	0.72479	2.2	0.80722	D	1	B	0.20780	0.048	B	0.25614	0.062	T	0.10154	-1.0642	10	0.72032	D	0.01	-24.8617	13.155	0.59511	0.0:0.9221:0.0:0.0779	.	287	Q8WXF1	PSPC1_HUMAN	N	287;227	ENSP00000343966:K287N	ENSP00000343966:K287N	K	-	3	2	PSPC1	19223517	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.096000	0.30976	1.172000	0.42781	0.555000	0.69702	AAG	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044037.2		-	ENST00000338910.4	Missense_Mutation	SNP	13 : 20325517 - 20325517 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	908	157
ZNF462	58499	broad.mit.edu	37	9	109689673	109689673	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109689673C>T	ENST00000441147.2	+	1	15	c.15C>T	c.(13-15)gtC>gtT	p.V5V	ZNF462_ENST00000457913.1_Silent_p.V1160V|ZNF462_ENST00000277225.5_Silent_p.V1160V			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1160					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TGAGAGGGGTCGAAGGGCCCC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	77	73			NA	NA	9		NA											NA				109689673		2203	4300	6503	SO:0001819	synonymous_variant			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143	58499	58499		Zinc fingers, C2H2-type	21684	protein-coding gene	gene with protein product					NA		Standard	NM_021224	NM_021224	NA	Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000441147.2:c.15C>T	9.37:g.109689673C>T		NA	Q5T0T4|Q8N408	37																																																																																				ZNF462-009	NOVEL	NAGNAG_splice_site|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000356384.1		+	ENST00000441147.2	Silent	SNP	9 : 109689673 - 109689673 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	832	177
NMUR2	56923	broad.mit.edu	37	5	151784223	151784223	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151784223G>A	ENST00000255262.3	-	1	617	c.452C>T	c.(451-453)cCg>cTg	p.P151L	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	151					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	p.P151R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GGCGCGGAACGGGTGTAGGAT	0.642		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)											49	55	53			NA	NA	5		NA											NA				151784223		2203	4300	6503	SO:0001583	missense			AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911	56923	56923		GPCR / Class A : Neuromedin U receptors	16454	protein-coding gene	gene with protein product		605108		NMU2R	NA	8940772, 10894543	Standard	NM_020167	NM_020167	NA	Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.452C>T	5.37:g.151784223G>A	ENSP00000255262:p.Pro151Leu	NA	Q7LC54|Q96AM5|Q9NRA6	37	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545940	0.86022	.	.	ENSG00000132911	ENST00000255262	T	0.61274	0.12	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	D	0.88036	0.6329	H	0.99815	4.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93720	0.7032	10	0.87932	D	0	-21.6404	18.0632	0.89383	0.0:0.0:1.0:0.0	.	151	Q9GZQ4	NMUR2_HUMAN	L	151	ENSP00000255262:P151L	ENSP00000255262:P151L	P	-	2	0	NMUR2	151764416	1.000000	0.71417	0.946000	0.38457	0.607000	0.37147	9.507000	0.97996	2.502000	0.84385	0.591000	0.81541	CCG	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252439.1		-	ENST00000255262.3	Missense_Mutation	SNP	5 : 151784223 - 151784223 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	516	101
CHD2	1106	broad.mit.edu	37	15	93521533	93521533	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:93521533G>A	ENST00000394196.4	+	21	3715	c.2647G>A	c.(2647-2649)Gtc>Atc	p.V883I	CHD2_ENST00000557381.1_Missense_Mutation_p.V883I	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	883	Helicase C-terminal.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GGACACAGTCGTCATCTTTGA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	103	107			NA	NA	15		NA											NA				93521533		2197	4298	6495	SO:0001583	missense			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575	1106	1106			1917	protein-coding gene	gene with protein product		602119			NA	9326634	Standard	NM_001271	NM_001042572	NA	Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.2647G>A	15.37:g.93521533G>A	ENSP00000377747:p.Val883Ile	NA	C6G482	37	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	11.10	1.538166	0.27475	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	T;T	0.71461	-0.57;-0.57	5.82	5.82	0.92795	Helicase, C-terminal (3);	0.000000	0.31102	U	0.008259	T	0.44074	0.1276	N	0.00894	-1.105	0.80722	D	1	B;P;P	0.35923	0.158;0.528;0.477	B;B;B	0.38500	0.241;0.275;0.051	T	0.56836	-0.7913	10	0.02654	T	1	-17.3595	20.1001	0.97870	0.0:0.0:1.0:0.0	.	883;883;883	A8K9Y5;O14647;O14647-2	.;CHD2_HUMAN;.	I	883	ENSP00000377747:V883I;ENSP00000451366:V883I	ENSP00000377747:V883I	V	+	1	0	CHD2	91322537	1.000000	0.71417	0.966000	0.40874	0.991000	0.79684	9.835000	0.99442	2.760000	0.94817	0.655000	0.94253	GTC	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313528.3		+	ENST00000394196.4	Missense_Mutation	SNP	15 : 93521533 - 93521533 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	471	85
CEPT1	10390	broad.mit.edu	37	1	111690517	111690517	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111690517C>T	ENST00000545121.1	+	2	389	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	CEPT1_ENST00000357172.4_Missense_Mutation_p.R61W	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	61						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	AAGTGCTGGACGGTCCCTGCT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	143	148			NA	NA	1		NA											NA				111690517		2203	4300	6503	SO:0001583	missense			AF068302	CCDS830.1	1p13	2010-07-08			ENSG00000134255	ENSG00000134255	10390	10390	2.7.8.1, 2.7.8.2		24289	protein-coding gene	gene with protein product					NA	10191259, 12216837	Standard	NM_006090	XM_005270353	NA	Approved		uc001eah.1	Q9Y6K0	OTTHUMG00000012357	ENST00000545121.1:c.181C>T	1.37:g.111690517C>T	ENSP00000441980:p.Arg61Trp	NA	Q69YJ9|Q9P0Y8	37	CCDS830.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319614	0.81469	.	.	ENSG00000134255	ENST00000545121;ENST00000357172	T;T	0.47869	0.83;0.83	5.3	4.38	0.52667	.	0.059906	0.64402	D	0.000002	T	0.47857	0.1468	L	0.57536	1.79	0.58432	D	0.999996	D;D	0.71674	0.998;0.96	P;P	0.59115	0.852;0.586	T	0.54057	-0.8350	10	0.66056	D	0.02	-23.4159	10.9488	0.47317	0.3405:0.6595:0.0:0.0	.	61;61	Q9Y6K0;B3KN25	CEPT1_HUMAN;.	W	61	ENSP00000441980:R61W;ENSP00000349696:R61W	ENSP00000349696:R61W	R	+	1	2	CEPT1	111492040	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	1.208000	0.32345	1.443000	0.47586	0.655000	0.94253	CGG	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034462.2		+	ENST00000545121.1	Missense_Mutation	SNP	1 : 111690517 - 111690517 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	601	125
LIMK2	3985	broad.mit.edu	37	22	31669446	31669446	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31669446T>C	ENST00000331728.4	+	14	1681	c.1567T>C	c.(1567-1569)Tat>Cat	p.Y523H	LIMK2_ENST00000444929.2_Missense_Mutation_p.Y277H|LIMK2_ENST00000333611.4_Missense_Mutation_p.Y502H|LIMK2_ENST00000406516.1_Missense_Mutation_p.Y445H|LIMK2_ENST00000340552.4_Missense_Mutation_p.Y502H|LIMK2_ENST00000467301.1_3'UTR	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	523	Protein kinase.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						AGGAAAGAGCTATGATGAGAC	0.532		NA									OREG0026477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													277	193	221			NA	NA	22		NA											NA				31669446		2203	4300	6503	SO:0001583	missense			D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541	3985	3985			6614	protein-coding gene	gene with protein product		601988			NA	8537403, 10591208	Standard	NM_016733	NM_005569	NA	Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.1567T>C	22.37:g.31669446T>C	ENSP00000332687:p.Tyr523His	826	A8K6H5|Q7KZ80|Q96E10|Q99464|Q9UFU0	37	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	.	22.2	4.261998	0.80358	.	.	ENSG00000182541	ENST00000406516;ENST00000444929;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	D;D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83;-2.83	5.53	4.49	0.54785	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95220	0.8450	M	0.84846	2.72	0.52501	D	0.999959	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.977	D	0.95049	0.8185	10	0.87932	D	0	-29.6651	12.0303	0.53394	0.0:0.0:0.1445:0.8555	.	555;502;277;523;445	F5GY29;Q7L3H5;E7EUC1;P53671;B5MC51	.;.;.;LIMK2_HUMAN;.	H	445;277;523;555;502;502	ENSP00000384602:Y445H;ENSP00000409522:Y277H;ENSP00000332687:Y523H;ENSP00000330470:Y502H;ENSP00000339916:Y502H	ENSP00000332687:Y523H	Y	+	1	0	LIMK2	29999446	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	0.904000	0.36572	0.460000	0.39030	TAT	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321911.1		+	ENST00000331728.4	Missense_Mutation	SNP	22 : 31669446 - 31669446 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	286	51
CEP164	22897	broad.mit.edu	37	11	117241887	117241887	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117241887G>A	ENST00000278935.3	+	9	1004	c.857G>A	c.(856-858)aGc>aAc	p.S286N	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	286					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AAGCCCTCCAGCCCAGGTGCA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	94	93			NA	NA	11		NA											NA				117241887		2201	4296	6497	SO:0001583	missense			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274	22897	22897			29182	protein-coding gene	gene with protein product		614848			NA	10470851, 14654843	Standard	NM_014956	NM_014956	NA	Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.857G>A	11.37:g.117241887G>A	ENSP00000278935:p.Ser286Asn	NA	Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	37	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.850435	0.32699	.	.	ENSG00000110274	ENST00000278935;ENST00000529538;ENST00000375253	T	0.60299	0.2	5.8	5.8	0.92144	.	0.107151	0.42420	D	0.000712	T	0.69133	0.3077	M	0.71581	2.175	0.27288	N	0.957925	D;P;D	0.57257	0.964;0.873;0.979	P;P;P	0.56563	0.637;0.544;0.801	T	0.66333	-0.5950	10	0.51188	T	0.08	-5.5206	13.2253	0.59911	0.0:0.1592:0.8408:0.0	.	260;286;286	E9PI34;Q9UPV0;Q9UPV0-2	.;CE164_HUMAN;.	N	286;260;213	ENSP00000278935:S286N	ENSP00000278935:S286N	S	+	2	0	CEP164	116747097	0.868000	0.29978	0.837000	0.33122	0.058000	0.15608	2.306000	0.43673	2.732000	0.93576	0.650000	0.86243	AGC	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392893.1		+	ENST00000278935.3	Missense_Mutation	SNP	11 : 117241887 - 117241887 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	615	98
GSTA5	221357	broad.mit.edu	37	6	52701122	52701122	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52701122C>T	ENST00000370989.2	-	3	213	c.184G>A	c.(184-186)Ggg>Agg	p.G62R	GSTA5_ENST00000475052.1_Intron|GSTA5_ENST00000284562.2_Missense_Mutation_p.G62R			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	NA	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	AGCTTCATCCCGTCAATCTCA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	130	130			NA	NA	6		NA											NA				52701122		2203	4300	6503	SO:0001583	missense			BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	221357	221357	2.5.1.18	Glutathione S-transferases / Soluble	19662	protein-coding gene	gene with protein product		607605	glutathione S-transferase A5		NA	12042665	Standard	NM_153699	NM_153699	NA	Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.184G>A	6.37:g.52701122C>T	ENSP00000360028:p.Gly62Arg	NA	Q5SZC2	37	CCDS4946.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518049	0.64634	.	.	ENSG00000182793	ENST00000370989;ENST00000284562	T;T	0.20069	2.1;2.1	2.63	2.63	0.31362	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.45337	0.1337	H	0.98769	4.325	0.54753	D	0.999989	P	0.48294	0.908	P	0.52031	0.688	T	0.67639	-0.5619	10	0.66056	D	0.02	.	13.2149	0.59854	0.0:1.0:0.0:0.0	.	62	Q7RTV2	GSTA5_HUMAN	R	62	ENSP00000360028:G62R;ENSP00000284562:G62R	ENSP00000284562:G62R	G	-	1	0	GSTA5	52809081	1.000000	0.71417	0.993000	0.49108	0.688000	0.40055	5.269000	0.65542	1.456000	0.47831	0.205000	0.17691	GGG	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040917.1		-	ENST00000370989.2	Missense_Mutation	SNP	6 : 52701122 - 52701122 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	759	155
TMTC1	83857	broad.mit.edu	37	12	29673629	29673629	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29673629T>C	ENST00000256062.5	-	12	1959	c.1486A>G	c.(1486-1488)Ata>Gta	p.I496V	RP11-310I24.1_ENST00000549070.1_RNA|TMTC1_ENST00000552618.1_Missense_Mutation_p.I628V|TMTC1_ENST00000551659.1_Missense_Mutation_p.I666V|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000539277.1_Missense_Mutation_p.I604V	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	604						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GTTTGGTATATTTCTTCAGCT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	111	115			NA	NA	12		NA											NA				29673629		2203	4300	6503	SO:0001583	missense				CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687	83857	83857		Tetratricopeptide (TTC) repeat domain containing	24099	protein-coding gene	gene with protein product		615855			NA	24764305	Standard	NM_031920	NM_001193451	NA	Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000256062.5:c.1486A>G	12.37:g.29673629T>C	ENSP00000256062:p.Ile496Val	NA	D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	37	CCDS8718.1	.	.	.	.	.	.	.	.	.	.	T	0.309	-0.969137	0.02232	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277	T;T;T;T	0.62639	0.01;0.01;0.28;0.01	5.14	1.02	0.19986	Tetratricopeptide-like helical (1);PIK-related kinase, FAT (1);Tetratricopeptide repeat-containing (1);	0.421087	0.25854	N	0.027877	T	0.31420	0.0796	N	0.04297	-0.235	0.21064	N	0.999796	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.15578	-1.0432	9	.	.	.	-5.6208	6.5409	0.22380	0.0:0.4529:0.0:0.5471	.	604;666	Q8IUR5;F8VTQ9	TMTC1_HUMAN;.	V	367;496;666;628;604	ENSP00000256062:I496V;ENSP00000448112:I666V;ENSP00000449043:I628V;ENSP00000442046:I604V	.	I	-	1	0	TMTC1	29564896	0.125000	0.22332	0.036000	0.18154	0.953000	0.61014	0.436000	0.21526	0.355000	0.24131	0.533000	0.62120	ATA	TMTC1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403503.1		-	ENST00000256062.5	Missense_Mutation	SNP	12 : 29673629 - 29673629 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	73
LRRC8B	23507	broad.mit.edu	37	1	90048877	90048877	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90048877C>T	ENST00000330947.2	+	5	1028	c.668C>T	c.(667-669)tCc>tTc	p.S223F	LRRC8B_ENST00000439853.1_Missense_Mutation_p.S223F|LRRC8B_ENST00000358200.4_Missense_Mutation_p.S223F|RP5-1007M22.2_ENST00000443562.1_RNA	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	223						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		AGCCCAACTTCCAGTGTCCTG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	62	61			NA	NA	1		NA											NA				90048877		2203	4300	6503	SO:0001583	missense			AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147	23507	23507			30692	protein-coding gene	gene with protein product	T cell activation leucine repeat rich protein	612888			NA	9039502	Standard	NM_015350	NM_015350	NA	Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.668C>T	1.37:g.90048877C>T	ENSP00000332674:p.Ser223Phe	NA	D3DT28|Q6UY21|Q8N106|Q92627	37	CCDS724.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724491	0.68959	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853;ENST00000541858	T;T;T	0.38240	1.15;1.15;1.15	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000001	T	0.38161	0.1030	L	0.44542	1.39	0.58432	D	0.999998	D	0.65815	0.995	P	0.56278	0.795	T	0.03597	-1.1021	9	.	.	.	.	19.0782	0.93171	0.0:1.0:0.0:0.0	.	223	Q6P9F7	LRC8B_HUMAN	F	223	ENSP00000332674:S223F;ENSP00000350933:S223F;ENSP00000400704:S223F	.	S	+	2	0	LRRC8B	89821465	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.729000	0.68538	2.572000	0.86782	0.655000	0.94253	TCC	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000028008.1		+	ENST00000330947.2	Missense_Mutation	SNP	1 : 90048877 - 90048877 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	310	79
SRCAP	10847	broad.mit.edu	37	16	30749384	30749384	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30749384G>T	ENST00000262518.4	+	34	8408	c.8023G>T	c.(8023-8025)Gaa>Taa	p.E2675*	SRCAP_ENST00000344771.4_Nonsense_Mutation_p.E2517*|SRCAP_ENST00000395059.2_Nonsense_Mutation_p.E2613*	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2675	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CAGGACCTCGGAAGAGCTGAC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	66	70			NA	NA	16		NA											NA				30749384		2197	4300	6497	SO:0001587	stop_gained			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603	10847	10847			16974	protein-coding gene	gene with protein product	Swi2/Snf2-related ATPase homolog (S. cerevisiae), domino homolog 1 (Drosophila)	611421			NA	10347196, 9205841	Standard	NM_006662	NM_006662	NA	Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.8023G>T	16.37:g.30749384G>T	ENSP00000262518:p.Glu2675*	NA	B0JZA6|O15026|Q7Z744|Q9Y5L9	37	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	44	10.550334	0.99426	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	.	.	.	4.02	4.02	0.46733	.	0.272978	0.26289	N	0.025226	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-1.7686	14.0938	0.65006	0.0:0.0:1.0:0.0	.	.	.	.	X	2675;2613;2517	.	ENSP00000262518:E2675X	E	+	1	0	SRCAP	30656885	0.993000	0.37304	0.967000	0.41034	0.135000	0.20990	2.659000	0.46741	2.543000	0.85770	0.467000	0.42956	GAA	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255523.1		+	ENST00000262518.4	Nonsense_Mutation	SNP	16 : 30749384 - 30749384 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	381	37
FAM211A	0	broad.mit.edu	37	17	16365615	16365615	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16365615T>G	ENST00000409083.3	-	2	494	c.332A>C	c.(331-333)gAc>gCc	p.D111A	C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000581718.1_RNA|FAM211A_ENST00000470794.1_Missense_Mutation_p.D111A|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA	NM_207387.3	NP_997270.2	Q8NAA5	CQ076_HUMAN		111										lung(1)	1						GATGATGAGGTCGTGTGTGAT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													186	139	155			NA	NA	17		NA											NA				16365615		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000409083.3:c.332A>C	17.37:g.16365615T>G	ENSP00000386504:p.Asp111Ala	NA		37	CCDS11178.2	.	.	.	.	.	.	.	.	.	.	T	23.9	4.467571	0.84533	.	.	ENSG00000181350	ENST00000409083;ENST00000470794	T	0.58060	0.36	4.19	4.19	0.49359	.	0.000000	0.85682	D	0.000000	T	0.66645	0.2810	L	0.57536	1.79	0.48511	D	0.999669	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.951	T	0.69815	-0.5043	10	0.87932	D	0	.	11.5248	0.50573	0.0:0.0:0.0:1.0	.	111;111	Q8NAA5;Q8NAA5-2	CQ076_HUMAN;.	A	111	ENSP00000419502:D111A	ENSP00000386504:D111A	D	-	2	0	C17orf76	16306340	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	7.285000	0.78660	1.912000	0.55364	0.402000	0.26972	GAC	FAM211A-001	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130461.2		-	ENST00000409083.3	Missense_Mutation	SNP	17 : 16365615 - 16365615 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	191	20
ZNF616	90317	broad.mit.edu	37	19	52618157	52618157	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52618157A>C	ENST00000600228.1	-	4	2521	c.2260T>G	c.(2260-2262)Ttt>Gtt	p.F754V	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	754					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CGACAAATAAAAGATTTCCCA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	130	132			NA	NA	19		NA											NA				52618157		2203	4300	6503	SO:0001583	missense			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611	90317	90317		Zinc fingers, C2H2-type, -	28062	protein-coding gene	gene with protein product					NA		Standard	XM_030892	NM_178523	NA	Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.2260T>G	19.37:g.52618157A>C	ENSP00000471000:p.Phe754Val	NA	B3KRV1|Q0P658|Q658V7	37	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	A	9.284	1.048981	0.19827	.	.	ENSG00000204611	ENST00000330123	.	.	.	2.04	0.916	0.19373	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.79913	0.4528	H	0.98351	4.21	0.09310	N	0.999998	D	0.69078	0.997	D	0.87578	0.998	T	0.66571	-0.5890	8	0.87932	D	0	.	6.943	0.24502	0.7646:0.2354:0.0:0.0	.	754	Q08AN1	ZN616_HUMAN	V	754	.	ENSP00000328722:F754V	F	-	1	0	ZNF616	57309969	0.002000	0.14202	0.003000	0.11579	0.005000	0.04900	1.690000	0.37711	0.036000	0.15547	-0.636000	0.03981	TTT	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462451.1		-	ENST00000600228.1	Missense_Mutation	SNP	19 : 52618157 - 52618157 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	502	108
CKMT2	1160	broad.mit.edu	37	5	80550874	80550874	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80550874C>T	ENST00000424301.2	+	6	748	c.510C>T	c.(508-510)agC>agT	p.S170S	CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2_ENST00000254035.4_Silent_p.S170S|CKMT2_ENST00000437669.1_Silent_p.S170S	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	170	Phosphagen kinase C-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	CTGGCCGCAGCATCCGTGGGC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	48	49			NA	NA	5		NA											NA				80550874		2203	4300	6503	SO:0001819	synonymous_variant				CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	1160	1160	2.7.3.2		1996	protein-coding gene	gene with protein product		123295			NA	2324105	Standard	NM_001825	NM_001825	NA	Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.510C>T	5.37:g.80550874C>T		NA	Q6ICS8|Q8N1E1	37	CCDS4053.1																																																																																			CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369600.1		+	ENST00000424301.2	Silent	SNP	5 : 80550874 - 80550874 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	399	71
TNS3	64759	broad.mit.edu	37	7	47384365	47384365	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47384365T>G	ENST00000398879.1	-	20	3004	c.2638A>C	c.(2638-2640)Aaa>Caa	p.K880Q	TNS3_ENST00000355730.3_Missense_Mutation_p.K640Q|TNS3_ENST00000311160.9_Missense_Mutation_p.K880Q			Q68CZ2	TENS3_HUMAN	tensin 3	880						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CGTCCTCCTTTGTGCTGACTG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	52	50			NA	NA	7		NA											NA				47384365		1937	4144	6081	SO:0001583	missense			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205	64759	64759		SH2 domain containing	21616	protein-coding gene	gene with protein product	tumor endothelial marker 6	606825	tensin-like SH2 domain-containing 1	TENS1	NA	11559528	Standard	NM_022748	NM_022748	NA	Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2638A>C	7.37:g.47384365T>G	ENSP00000381854:p.Lys880Gln	NA	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	37	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	T	7.677	0.688120	0.14973	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.94232	-2.93;-2.93;-3.38;-3.06	5.55	3.05	0.35203	.	1.937310	0.01889	N	0.038421	D	0.88288	0.6396	L	0.27053	0.805	0.18873	N	0.999984	B	0.30482	0.281	B	0.24701	0.055	T	0.75190	-0.3405	10	0.14252	T	0.57	-2.8134	9.618	0.39704	0.0:0.0:0.3427:0.6573	.	880	Q68CZ2	TENS3_HUMAN	Q	880;990;880;640;336;983	ENSP00000312143:K880Q;ENSP00000381854:K880Q;ENSP00000347968:K640Q;ENSP00000414358:K983Q	ENSP00000312143:K880Q	K	-	1	0	TNS3	47350890	0.292000	0.24362	0.005000	0.12908	0.488000	0.33401	1.377000	0.34317	0.335000	0.23614	0.379000	0.24179	AAA	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157253.1		-	ENST00000398879.1	Missense_Mutation	SNP	7 : 47384365 - 47384365 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	441	87
TNNI3	7137	broad.mit.edu	37	19	55663261	55663261	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55663261G>A	ENST00000344887.5	-	8	716	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C	TNNI3_ENST00000588882.1_Missense_Mutation_p.R167C	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	192			R -> H (in RCM1).		cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		ATGTTCTTGCGCCAGTCTCCC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	119	119			NA	NA	19		NA											NA				55663261		1976	4158	6134	SO:0001583	missense			M64247	CCDS42628.1	19q13.4	2014-09-17	2005-09-12			ENSG00000129991	7137	7137			11947	protein-coding gene	gene with protein product		191044	troponin I, cardiac, cardiomyopathy, dilated 2A (autosomal recessive)	CMD2A	NA	9605869, 9241277, 10806205	Standard		NM_000363	NA	Approved	TNNC1, CMH7	uc002qjg.4	P19429		ENST00000344887.5:c.574C>T	19.37:g.55663261G>A	ENSP00000341838:p.Arg192Cys	NA		37	CCDS42628.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635841	0.67130	.	.	ENSG00000129991	ENST00000344887	D	0.98120	-4.73	4.46	3.3	0.37823	.	0.000000	0.64402	D	0.000017	D	0.98460	0.9487	M	0.84433	2.695	0.53005	D	0.999963	D	0.89917	1.0	D	0.80764	0.994	D	0.98378	1.0557	10	0.87932	D	0	-7.0285	11.1792	0.48618	0.0:0.0:0.7079:0.2921	.	192	P19429	TNNI3_HUMAN	C	192	ENSP00000341838:R192C	ENSP00000341838:R192C	R	-	1	0	TNNI3	60355073	0.995000	0.38212	1.000000	0.80357	0.985000	0.73830	0.153000	0.16323	2.213000	0.71641	0.491000	0.48974	CGC	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452098.1		-	ENST00000344887.5	Missense_Mutation	SNP	19 : 55663261 - 55663261 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	282	56
PAXBP1	94104	broad.mit.edu	37	21	34110549	34110549	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34110549G>A	ENST00000331923.4	-	16	2605	c.2416C>T	c.(2416-2418)Cga>Tga	p.R806*	PAXBP1-AS1_ENST00000440052.1_RNA	NM_016631.3	NP_057715.2			PAX3 and PAX7 binding protein 1	NA											NA						AGAATATATCGATTTAATAAA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	72	71			NA	NA	21		NA											NA				34110549		2203	4295	6498	SO:0001587	stop_gained			AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086	94104	94104			13579	protein-coding gene	gene with protein product	functional spliceosome-associated protein 105, GC-rich sequence DNA-binding factor candidate		chromosome 21 open reading frame 66, GC-rich sequence DNA-binding factor 1	C21orf66, GCFC1	NA	11707072, 22862948	Standard	NM_013329	NM_016631	NA	Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.2416C>T	21.37:g.34110549G>A	ENSP00000328992:p.Arg806*	NA		37	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	G	39	7.832613	0.98513	.	.	ENSG00000159086	ENST00000331923	.	.	.	5.72	3.19	0.36642	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.8421	12.4223	0.55527	0.0:0.0:0.2692:0.7308	.	.	.	.	X	806	.	ENSP00000328992:R806X	R	-	1	2	GCFC1	33032420	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	0.865000	0.27940	1.107000	0.41642	-0.388000	0.06559	CGA	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000139563.1		-	ENST00000331923.4	Nonsense_Mutation	SNP	21 : 34110549 - 34110549 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	251	44
MFN2	9927	broad.mit.edu	37	1	12052696	12052696	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12052696G>A	ENST00000235329.5	+	4	582	c.260G>A	c.(259-261)gGc>gAc	p.G87D	MFN2_ENST00000497302.1_3'UTR|MFN2_ENST00000444836.1_Missense_Mutation_p.G87D	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	87					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AAAGTGAGAGGCATCAGTGAG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													249	225	233			NA	NA	1		NA											NA				12052696		2203	4300	6503	SO:0001583	missense			AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688	9927	9927			16877	protein-coding gene	gene with protein product		608507			NA	12499352, 11181170	Standard	NM_014874	NM_014874	NA	Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.260G>A	1.37:g.12052696G>A	ENSP00000235329:p.Gly87Asp	NA	A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	37	CCDS30587.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788652	0.90367	.	.	ENSG00000116688	ENST00000444836;ENST00000235329;ENST00000412236	D;D;D	0.95482	-3.53;-3.53;-3.72	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.96197	0.8760	M	0.73217	2.22	0.80722	D	1	D	0.54772	0.968	P	0.52267	0.694	D	0.94998	0.8140	10	0.29301	T	0.29	-28.61	18.3893	0.90477	0.0:0.0:1.0:0.0	.	87	O95140	MFN2_HUMAN	D	87	ENSP00000416338:G87D;ENSP00000235329:G87D;ENSP00000412023:G87D	ENSP00000235329:G87D	G	+	2	0	MFN2	11975283	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.335000	0.72949	2.588000	0.87417	0.561000	0.74099	GGC	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006859.2		+	ENST00000235329.5	Missense_Mutation	SNP	1 : 12052696 - 12052696 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1225	226
CYR61	3491	broad.mit.edu	37	1	86047131	86047131	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86047131C>T	ENST00000451137.2	+	2	371	c.147C>T	c.(145-147)ggC>ggT	p.G49G	CYR61_ENST00000480413.1_3'UTR	NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	49	IGFBP N-terminal.				cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		TCCGGGACGGCTGCGGCTGCT	0.687		NA									OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	16	16			NA	NA	1		NA											NA				86047131		2201	4297	6498	SO:0001819	synonymous_variant			AF031385	CCDS706.1	1p22.3	2008-02-05			ENSG00000142871	ENSG00000142871	3491	3491			2654	protein-coding gene	gene with protein product		602369		IGFBP10	NA	9135077	Standard	NM_001554	NM_001554	NA	Approved	GIG1, CCN1	uc001dle.3	O00622	OTTHUMG00000010577	ENST00000451137.2:c.147C>T	1.37:g.86047131C>T		1241	O14934|O43775|Q9BZL7	37	CCDS706.1																																																																																			CYR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029187.1		+	ENST00000451137.2	Silent	SNP	1 : 86047131 - 86047131 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	86	7
TET3	200424	broad.mit.edu	37	2	74274777	74274777	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74274777A>T	ENST00000409262.3	+	1	1328	c.1328A>T	c.(1327-1329)aAg>aTg	p.K443M		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	443							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCAAGGAGAAGAAGAAGAAG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	39	37			NA	NA	2		NA											NA				74274777		1941	4123	6064	SO:0001583	missense				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605	200424	200424			28313	protein-coding gene	gene with protein product		613555	tet oncogene family member 3		NA	9455477	Standard		XM_005264187	NA	Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.1328A>T	2.37:g.74274777A>T	ENSP00000386869:p.Lys443Met	NA	A6NEI3|Q86Z24|Q8TBM9	37	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.826483	0.50739	.	.	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	T;T	0.27890	1.64;2.52	5.55	5.55	0.83447	.	.	.	.	.	T	0.33876	0.0878	L	0.29908	0.895	0.30441	N	0.776174	D	0.62365	0.991	P	0.54270	0.747	T	0.28996	-1.0026	9	0.59425	D	0.04	.	9.2408	0.37495	0.9181:0.0:0.0819:0.0	.	443	O43151	TET3_HUMAN	M	485;443;443	ENSP00000307803:K485M;ENSP00000386869:K443M	ENSP00000233310:K443M	K	+	2	0	TET3	74128285	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	3.545000	0.53648	2.115000	0.64714	0.482000	0.46254	AAG	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328141.4		+	ENST00000409262.3	Missense_Mutation	SNP	2 : 74274777 - 74274777 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	152	11
EGFL6	25975	broad.mit.edu	37	X	13645136	13645136	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:13645136G>T	ENST00000361306.1	+	11	1549	c.1292G>T	c.(1291-1293)gGc>gTc	p.G431V	EGFL6_ENST00000473826.1_3'UTR|EGFL6_ENST00000380602.3_Missense_Mutation_p.G432V	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	431	MAM.				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						AAAGCTATTGGCTTCTATATG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	84	81			NA	NA	X		NA											NA				13645136		2203	4300	6503	SO:0001583	missense			AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759	25975	25975			3235	protein-coding gene	gene with protein product		300239	MAM and EGF domain containing	MAEG	NA	10610727	Standard	NM_015507	NM_015507	NA	Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.1292G>T	X.37:g.13645136G>T	ENSP00000355126:p.Gly431Val	NA	B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	37	CCDS14155.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.636831	0.67130	.	.	ENSG00000198759	ENST00000361306;ENST00000380602	T;T	0.32272	1.46;1.46	5.0	5.0	0.66597	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	0.000000	0.85682	D	0.000000	T	0.66167	0.2762	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76900	-0.2788	10	0.87932	D	0	.	17.4988	0.87726	0.0:0.0:1.0:0.0	.	432;431	Q8IUX8-2;Q8IUX8	.;EGFL6_HUMAN	V	431;432	ENSP00000355126:G431V;ENSP00000369976:G432V	ENSP00000355126:G431V	G	+	2	0	EGFL6	13555057	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	6.750000	0.74888	2.059000	0.61396	0.600000	0.82982	GGC	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055800.1		+	ENST00000361306.1	Missense_Mutation	SNP	X : 13645136 - 13645136 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	505	112
FSIP2	401024	broad.mit.edu	37	2	186671708	186671708	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:186671708C>A	ENST00000424728.1	+	17	17675	c.17675C>A	c.(17674-17676)cCt>cAt	p.P5892H	FSIP2_ENST00000343098.5_Missense_Mutation_p.P5981H					fibrous sheath interacting protein 2	NA										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAAATGCCACCTATGCATAAA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	59	59			NA	NA	2		NA											NA				186671708		1851	4106	5957	SO:0001583	missense			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738	401024	401024			21675	protein-coding gene	gene with protein product		615796			NA	14702039	Standard	NM_173651	NM_173651	NA	Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.17675C>A	2.37:g.186671708C>A	ENSP00000401306:p.Pro5892His	NA		37		.	.	.	.	.	.	.	.	.	.	C	0.015	-1.542692	0.00934	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.44083	0.93;0.94	4.52	1.24	0.21308	.	.	.	.	.	T	0.22205	0.0535	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.19844	-1.0293	7	0.44086	T	0.13	.	6.0926	0.20003	0.3565:0.5258:0.1177:0.0	.	.	.	.	H	5981;5892	ENSP00000344403:P5981H;ENSP00000401306:P5892H	ENSP00000344403:P5981H	P	+	2	0	FSIP2	186379953	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.154000	0.10130	0.020000	0.15106	-0.479000	0.04858	CCT	FSIP2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000332778.3		+	ENST00000424728.1	Missense_Mutation	SNP	2 : 186671708 - 186671708 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	375	62
PTPN22	26191	broad.mit.edu	37	1	114414173	114414173	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114414173C>T	ENST00000359785.5	-	1	208	c.73G>A	c.(73-75)Gcc>Acc	p.A25T	PTPN22_ENST00000528414.1_Missense_Mutation_p.A25T|PTPN22_ENST00000460620.1_Missense_Mutation_p.A25T|PTPN22_ENST00000420377.2_Missense_Mutation_p.A25T|PTPN22_ENST00000538253.1_5'UTR|PTPN22_ENST00000534519.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA|PTPN22_ENST00000525799.1_Missense_Mutation_p.A25T	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	25	Tyrosine-protein phosphatase.				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATTCATTGGCAAACTCCTCT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	130	128			NA	NA	1		NA											NA				114414173		2203	4300	6503	SO:0001583	missense			AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242	26191	26191		Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor	9652	protein-coding gene	gene with protein product		600716	protein tyrosine phosphatase, non-receptor type 8	PTPN8	NA	10068674, 1373816	Standard	NM_015967	NM_015967	NA	Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.73G>A	1.37:g.114414173C>T	ENSP00000352833:p.Ala25Thr	NA	A0N0K6|B1ALC8|D4NZ71|O95063|O95064|Q6IPX8|Q8WVM1	37	CCDS863.1	.	.	.	.	.	.	.	.	.	.	C	3.026	-0.200671	0.06219	.	.	ENSG00000134242	ENST00000460620;ENST00000359785;ENST00000528414;ENST00000420377;ENST00000525799;ENST00000354605	T;T;T;T;T	0.13901	2.76;3.69;2.76;3.58;2.55	5.28	3.37	0.38596	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.213663	0.38492	N	0.001668	T	0.06234	0.0161	L	0.41906	1.305	0.36113	D	0.844951	P;B;P;B;B;B	0.52463	0.946;0.002;0.953;0.004;0.371;0.001	P;B;B;B;B;B	0.46452	0.517;0.002;0.375;0.008;0.092;0.003	T	0.26677	-1.0096	10	0.42905	T	0.14	.	8.2142	0.31501	0.1385:0.7143:0.0:0.1471	.	25;25;25;25;25;25	E9PPI1;E9PMT0;E9PLD8;G5E984;Q9Y2R2-5;Q9Y2R2	.;.;.;.;.;PTN22_HUMAN	T	25	ENSP00000433141:A25T;ENSP00000352833:A25T;ENSP00000435176:A25T;ENSP00000388229:A25T;ENSP00000432674:A25T	ENSP00000346621:A25T	A	-	1	0	PTPN22	114215696	0.869000	0.29996	0.777000	0.31699	0.001000	0.01503	0.975000	0.29449	0.355000	0.24131	-2.636000	0.00152	GCC	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033015.1		-	ENST00000359785.5	Missense_Mutation	SNP	1 : 114414173 - 114414173 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	75
ASXL2	55252	broad.mit.edu	37	2	25965233	25965233	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25965233G>A	ENST00000435504.4	-	13	4266	c.3973C>T	c.(3973-3975)Cca>Tca	p.P1325S	ASXL2_ENST00000404843.1_Missense_Mutation_p.P808S|ASXL2_ENST00000336112.4_Missense_Mutation_p.P1297S|ASXL2_ENST00000272341.4_Missense_Mutation_p.P808S			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	1325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTATAGCTTGGCCCTATCTGG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	30	30			NA	NA	2		NA											NA				25965233		1946	4137	6083	SO:0001583	missense					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970	55252	55252			23805	protein-coding gene	gene with protein product		612991	additional sex combs like 2 (Drosophila)		NA	12888926	Standard	NM_018263	NM_018263	NA	Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.3973C>T	2.37:g.25965233G>A	ENSP00000391447:p.Pro1325Ser	NA	Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	37		.	.	.	.	.	.	.	.	.	.	G	13.12	2.141906	0.37825	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.18657	2.24;2.24;2.2;2.2	6.03	5.14	0.70334	.	0.166625	0.53938	D	0.000047	T	0.36552	0.0971	L	0.55103	1.725	0.25005	N	0.991446	D;B	0.89917	1.0;0.162	D;B	0.87578	0.998;0.055	T	0.18209	-1.0344	10	0.22706	T	0.39	-10.6364	9.4576	0.38764	0.0746:0.1453:0.7801:0.0	.	808;1325	Q76L83-2;Q76L83	.;ASXL2_HUMAN	S	1325;1297;808;808	ENSP00000391447:P1325S;ENSP00000337250:P1297S;ENSP00000383920:P808S;ENSP00000272341:P808S	ENSP00000272341:P808S	P	-	1	0	ASXL2	25818737	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	1.564000	0.36375	1.524000	0.49035	0.655000	0.94253	CCA	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000325593.3		-	ENST00000435504.4	Missense_Mutation	SNP	2 : 25965233 - 25965233 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	175	29
OR11G2	390439	broad.mit.edu	37	14	20666038	20666038	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20666038C>A	ENST00000357366.3	+	1	544	c.544C>A	c.(544-546)Ctt>Att	p.L182I		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CTGTACCAATCTTGTGGTCAA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	94	100			NA	NA	14		NA											NA				20666038		2203	4300	6503	SO:0001583	missense				CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832	390439	390439		GPCR / Class A : Olfactory receptors	15346	protein-coding gene	gene with protein product					NA		Standard		NM_001005503	NA	Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.544C>A	14.37:g.20666038C>A	ENSP00000349930:p.Leu182Ile	NA	Q6IF09|Q96R33	37	CCDS32032.1	.	.	.	.	.	.	.	.	.	.	c	10.29	1.308375	0.23821	.	.	ENSG00000196832	ENST00000357366	T	0.39056	1.1	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41823	D	0.000814	T	0.65165	0.2665	M	0.85945	2.785	0.09310	N	1	D	0.71674	0.998	D	0.76575	0.988	T	0.60342	-0.7282	10	0.62326	D	0.03	.	10.6449	0.45615	0.0:0.9109:0.0:0.0891	.	182	Q8NGC1	O11G2_HUMAN	I	182	ENSP00000349930:L182I	ENSP00000349930:L182I	L	+	1	0	OR11G2	19735878	0.001000	0.12720	0.099000	0.21106	0.002000	0.02628	-0.184000	0.09698	2.565000	0.86533	0.650000	0.86243	CTT	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395722.1		+	ENST00000357366.3	Missense_Mutation	SNP	14 : 20666038 - 20666038 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	370	55
LYST	1130	broad.mit.edu	37	1	235973135	235973135	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235973135A>C	ENST00000389794.3	-	5	1157	c.983T>G	c.(982-984)tTt>tGt	p.F328C	LYST_ENST00000536965.1_Missense_Mutation_p.F328C|LYST_ENST00000389793.2_Missense_Mutation_p.F328C			Q99698	LYST_HUMAN	lysosomal trafficking regulator	328					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CACTGTTCGAAAGAGCATCCT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	44	45			NA	NA	1		NA											NA				235973135		2203	4300	6503	SO:0001583	missense			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669	1130	1130		WD repeat domain containing	1968	protein-coding gene	gene with protein product		606897	Chediak-Higashi syndrome 1	CHS1	NA	8717042, 8896560	Standard		NM_000081	NA	Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.983T>G	1.37:g.235973135A>C	ENSP00000374444:p.Phe328Cys	NA	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	A	16.63	3.175695	0.57692	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.15017	2.46;2.46;2.46	5.49	3.12	0.35913	.	0.194698	0.47455	D	0.000228	T	0.27241	0.0668	L	0.44542	1.39	0.32441	N	0.546732	D;D	0.76494	0.999;0.996	D;P	0.65443	0.935;0.847	T	0.26950	-1.0088	10	0.87932	D	0	.	7.258	0.26187	0.7988:0.0:0.0706:0.1306	.	328;328	Q99698-3;Q99698	.;LYST_HUMAN	C	328	ENSP00000374444:F328C;ENSP00000374443:F328C;ENSP00000438315:F328C	ENSP00000374443:F328C	F	-	2	0	LYST	234039758	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.269000	0.65542	0.980000	0.38523	0.533000	0.62120	TTT	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097533.5		-	ENST00000389794.3	Missense_Mutation	SNP	1 : 235973135 - 235973135 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	228	68
FBLN7	129804	broad.mit.edu	37	2	112944947	112944947	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112944947A>G	ENST00000409903.1	+	8	1177				FBLN7_ENST00000409450.3_Missense_Mutation_p.D349G|FBLN7_ENST00000409667.3_Missense_Mutation_p.D261G|FBLN7_ENST00000331203.2_Missense_Mutation_p.D395G			Q53RD9	FBLN7_HUMAN	fibulin 7	NA					cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CAGACTGGGGATCTGATCCTT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	96	96			NA	NA	2		NA											NA				112944947		2203	4300	6503	SO:0001627	intron_variant				CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152	129804	129804		Fibulins	26740	protein-coding gene	gene with protein product		611551			NA	17699513	Standard	NM_153214	NM_153214	NA	Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000409903.1:c.948-17A>G	2.37:g.112944947A>G		NA	A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	37		.	.	.	.	.	.	.	.	.	.	A	13.53	2.265622	0.40095	.	.	ENSG00000144152	ENST00000331203;ENST00000409667;ENST00000409450;ENST00000272559	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.25382	0.0617	N	0.08118	0	0.27037	N	0.964119	B;B;B	0.24368	0.001;0.001;0.102	B;B;B	0.20577	0.005;0.007;0.03	T	0.12451	-1.0547	10	0.31617	T	0.26	-26.3332	15.451	0.75274	1.0:0.0:0.0:0.0	.	261;349;395	Q53RD9-4;Q53RD9-2;Q53RD9	.;.;FBLN7_HUMAN	G	395;261;349;217	ENSP00000331411:D395G;ENSP00000386822:D261G;ENSP00000387000:D349G;ENSP00000272559:D217G	ENSP00000272559:D217G	D	+	2	0	FBLN7	112661418	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	8.861000	0.92277	2.056000	0.61249	0.454000	0.30748	GAT	FBLN7-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000330506.1		+	ENST00000409903.1	Intron	SNP	2 : 112944947 - 112944947 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	604	158
AK3	50808	broad.mit.edu	37	9	4719298	4719298	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4719298C>A	ENST00000381809.3	-	3	511	c.281G>T	c.(280-282)aGg>aTg	p.R94M	AK3_ENST00000359883.2_Missense_Mutation_p.R24M|AK3_ENST00000447596.4_Missense_Mutation_p.R54M	NM_016282.3	NP_057366.2	Q9UIJ7	KAD3_HUMAN	adenylate kinase 3	94					blood coagulation	mitochondrial matrix	ATP binding|GTP binding|nucleoside triphosphate adenylate kinase activity			large_intestine(2)|lung(1)|ovary(2)	5	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0302)		TGGAAGTGTCCTTGGAAAACC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	46	48			NA	NA	9		NA											NA				4719298		2203	4300	6503	SO:0001583	missense			BC013771	CCDS6455.1, CCDS56561.1, CCDS56562.1	9p24.1	2010-09-29	2004-06-11	2005-04-07	ENSG00000147853	ENSG00000147853	50808	50808			17376	protein-coding gene	gene with protein product		609290	adenylate kinase 6, adenylate kinase 3 like 1	AK6, AK3L1	NA	8288, 182062	Standard	NM_016282	NM_001199852	NA	Approved	AKL3L1	uc003ziq.2	Q9UIJ7	OTTHUMG00000019472	ENST00000381809.3:c.281G>T	9.37:g.4719298C>A	ENSP00000371230:p.Arg94Met	NA	D3DRI1|Q5VYW6|Q9H576|Q9NPB4	37	CCDS6455.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351724	0.82132	.	.	ENSG00000147853	ENST00000381809;ENST00000359883;ENST00000474822;ENST00000447596	D;D;D	0.87103	-2.21;-2.21;-2.21	5.66	4.75	0.60458	.	0.043780	0.85682	D	0.000000	D	0.96648	0.8906	H	0.99555	4.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98528	1.0626	10	0.87932	D	0	-19.0572	15.9198	0.79552	0.1364:0.8636:0.0:0.0	.	54;94	E7ET30;Q9UIJ7	.;KAD3_HUMAN	M	94;24;24;54	ENSP00000371230:R94M;ENSP00000352948:R24M;ENSP00000413933:R54M	ENSP00000352948:R24M	R	-	2	0	AK3	4709298	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.407000	0.80029	1.377000	0.46286	0.655000	0.94253	AGG	AK3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051585.1		-	ENST00000381809.3	Missense_Mutation	SNP	9 : 4719298 - 4719298 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	245	25
FRMD5	84978	broad.mit.edu	37	15	44216429	44216429	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44216429G>A	ENST00000402883.1	-	2	336	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	FRMD5_ENST00000417257.1_Missense_Mutation_p.R61C|FRMD5_ENST00000484674.1_5'UTR			Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	61	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		TCTACAAAGCGGATACCAAAA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	169	172			NA	NA	15		NA											NA				44216429		2198	4298	6496	SO:0001583	missense			BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877	84978	84978			28214	protein-coding gene	gene with protein product					NA		Standard	NM_032892	XM_005254729	NA	Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000402883.1:c.181C>T	15.37:g.44216429G>A	ENSP00000384142:p.Arg61Cys	NA	Q8NBG4	37		.	.	.	.	.	.	.	.	.	.	G	23.6	4.430422	0.83776	.	.	ENSG00000171877	ENST00000417257;ENST00000402883;ENST00000449926	T;T;T	0.77620	-1.11;-1.11;-1.11	5.46	5.46	0.80206	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.87939	0.6304	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.88666	0.3192	10	0.59425	D	0.04	.	16.8041	0.85621	0.0:0.0:1.0:0.0	.	61	Q7Z6J6	FRMD5_HUMAN	C	61;61;27	ENSP00000403067:R61C;ENSP00000384142:R61C;ENSP00000399684:R27C	ENSP00000384142:R61C	R	-	1	0	FRMD5	42003721	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.545000	0.60698	2.572000	0.86782	0.467000	0.42956	CGC	FRMD5-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000317312.1		-	ENST00000402883.1	Missense_Mutation	SNP	15 : 44216429 - 44216429 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	851	142
MRGPRX1	259249	broad.mit.edu	37	11	18955973	18955973	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18955973C>T	ENST00000302797.3	-	1	583	c.359G>A	c.(358-360)cGc>cAc	p.R120H	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	120					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGACAGGCAGCGCTCGGTGCT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	86	89			NA	NA	11		NA											NA				18955973		2194	4287	6481	SO:0001583	missense				CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255	259249	259249		GPCR / Class A : Orphans	17962	protein-coding gene	gene with protein product		607227			NA	11551509	Standard	NM_147199	NM_147199	NA	Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.359G>A	11.37:g.18955973C>T	ENSP00000305766:p.Arg120His	NA	Q4V9L2|Q8TDD8|Q8TDD9	37	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	22.0	4.228404	0.79576	.	.	ENSG00000170255	ENST00000302797	D	0.97161	-4.27	2.28	-1.11	0.09840	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000014	D	0.97754	0.9263	M	0.93150	3.385	0.24603	N	0.993768	D	0.56968	0.978	P	0.56398	0.797	D	0.94314	0.7548	10	0.87932	D	0	.	6.9697	0.24642	0.0:0.6113:0.0:0.3887	.	120	Q96LB2	MRGX1_HUMAN	H	120	ENSP00000305766:R120H	ENSP00000305766:R120H	R	-	2	0	MRGPRX1	18912549	0.057000	0.20700	0.039000	0.18376	0.683000	0.39861	1.610000	0.36869	-0.258000	0.09446	0.491000	0.48974	CGC	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369913.1		-	ENST00000302797.3	Missense_Mutation	SNP	11 : 18955973 - 18955973 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	664	123
C2orf50	130813	broad.mit.edu	37	2	11273597	11273597	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11273597G>A	ENST00000381585.3	+	1	419	c.137G>A	c.(136-138)tGc>tAc	p.C46Y	C2orf50_ENST00000405022.3_Missense_Mutation_p.C46Y			Q96LR7	CB050_HUMAN	chromosome 2 open reading frame 50	46										breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134)		GCTGGTGGCTGCCAGGCCCCC	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	16	15			NA	NA	2		NA											NA				11273597		2190	4280	6470	SO:0001583	missense			AK057872	CCDS1678.1	2p25.1	2012-08-02			ENSG00000150873	ENSG00000150873	130813	130813			26324	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_182500	NM_182500	NA	Approved	FLJ25143	uc010yjj.1	Q96LR7	OTTHUMG00000119057	ENST00000381585.3:c.137G>A	2.37:g.11273597G>A	ENSP00000370997:p.Cys46Tyr	NA	A8K9W3|D6W503	37	CCDS1678.1	.	.	.	.	.	.	.	.	.	.	G	9.229	1.035269	0.19590	.	.	ENSG00000150873	ENST00000381585;ENST00000405022	.	.	.	3.35	-0.0478	0.13841	.	0.865809	0.09677	N	0.770278	T	0.26991	0.0661	N	0.22421	0.69	0.09310	N	1	B	0.33288	0.406	B	0.31245	0.126	T	0.15780	-1.0425	9	0.24483	T	0.36	5.7794	11.1446	0.48424	0.0:0.5472:0.4528:0.0	.	46	Q96LR7	CB050_HUMAN	Y	46	.	ENSP00000370997:C46Y	C	+	2	0	C2orf50	11191048	0.000000	0.05858	0.003000	0.11579	0.111000	0.19643	-0.850000	0.04317	-0.026000	0.13895	0.472000	0.43445	TGC	C2orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239268.1		+	ENST00000381585.3	Missense_Mutation	SNP	2 : 11273597 - 11273597 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	146	33
TRAF7	84231	broad.mit.edu	37	16	2223811	2223811	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2223811C>T	ENST00000326181.6	+	12	1241	c.1109C>T	c.(1108-1110)gCg>gTg	p.A370V		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	370					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						CACATCAACGCGCGGCTGAAC	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	37	38			NA	NA	16		NA											NA				2223811		2197	4298	6495	SO:0001583	missense			AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653	84231	84231		RING-type (C3HC4) zinc fingers, WD repeat domain containing	20456	protein-coding gene	gene with protein product		606692	ring finger and WD repeat domain 1, TNF receptor-associated factor 7	RFWD1	NA	11230166, 15001576	Standard	NM_032271	NM_032271	NA	Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.1109C>T	16.37:g.2223811C>T	ENSP00000318944:p.Ala370Val	NA	Q9H073	37	CCDS10461.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280166	0.80692	.	.	ENSG00000131653	ENST00000326181	T	0.51071	0.72	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.30262	0.0759	N	0.24115	0.695	0.80722	D	1	P	0.48640	0.913	B	0.31390	0.129	T	0.21381	-1.0247	10	0.39692	T	0.17	-20.8037	17.1906	0.86878	0.0:1.0:0.0:0.0	.	370	Q6Q0C0	TRAF7_HUMAN	V	370	ENSP00000318944:A370V	ENSP00000318944:A370V	A	+	2	0	TRAF7	2163812	1.000000	0.71417	0.111000	0.21465	0.848000	0.48234	7.195000	0.77798	2.521000	0.84997	0.655000	0.94253	GCG	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250762.1		+	ENST00000326181.6	Missense_Mutation	SNP	16 : 2223811 - 2223811 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	56
NR1D2	9975	broad.mit.edu	37	3	24003495	24003495	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:24003495G>A	ENST00000312521.4	+	5	864	c.545G>A	c.(544-546)cGt>cAt	p.R182H	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	182					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						ATTCCTAAGCGTGAAAAACAG	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	63	65			NA	NA	3		NA											NA				24003495		2203	4300	6503	SO:0001583	missense			BC045613	CCDS33718.1	3p24.1	2013-01-16			ENSG00000174738	ENSG00000174738	9975	9975		Nuclear hormone receptors	7963	protein-coding gene	gene with protein product		602304			NA	7997240, 10198169	Standard		NM_005126	NA	Approved	BD73, RVR, EAR-1r, HZF2, Hs.37288	uc003ccs.2	Q14995	OTTHUMG00000155659	ENST00000312521.4:c.545G>A	3.37:g.24003495G>A	ENSP00000310006:p.Arg182His	NA	B2R8Q3|O00402|Q86XD4	37	CCDS33718.1	.	.	.	.	.	.	.	.	.	.	G	33	5.277576	0.95459	.	.	ENSG00000174738	ENST00000312521;ENST00000396676	D	0.96396	-4.0	5.98	5.98	0.97165	Nuclear hormone receptor, ligand-binding (1);	0.104396	0.64402	D	0.000004	D	0.97939	0.9322	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98254	1.0495	10	0.87932	D	0	.	20.4447	0.99122	0.0:0.0:1.0:0.0	.	182	Q14995	NR1D2_HUMAN	H	182	ENSP00000310006:R182H	ENSP00000310006:R182H	R	+	2	0	NR1D2	23978499	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.396000	0.97270	2.834000	0.97654	0.655000	0.94253	CGT	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341017.3		+	ENST00000312521.4	Missense_Mutation	SNP	3 : 24003495 - 24003495 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	218	40
HS2ST1	9653	broad.mit.edu	37	1	87549948	87549948	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:87549948C>A	ENST00000370550.5	+	3	798	c.435C>A	c.(433-435)taC>taA	p.Y145*	HS2ST1_ENST00000370551.4_Nonsense_Mutation_p.Y145*|RP5-1052I5.2_ENST00000370548.2_Nonsense_Mutation_p.Y119*|HS2ST1_ENST00000356813.4_Nonsense_Mutation_p.Y119*	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	145						Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		ACGTTTCTTACTTGGATTTTG	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	102	101			NA	NA	1		NA											NA				87549948		2203	4299	6502	SO:0001587	stop_gained			AB007917	CCDS711.1, CCDS44171.1	1p22.3	2008-02-05			ENSG00000153936	ENSG00000153936	9653	9653		Sulfotransferases, membrane-bound	5193	protein-coding gene	gene with protein product		604844			NA	9455484	Standard	NM_012262	NM_012262	NA	Approved	KIAA0448	uc010osk.2	Q7LGA3	OTTHUMG00000010255	ENST00000370550.5:c.435C>A	1.37:g.87549948C>A	ENSP00000359581:p.Tyr145*	NA	D3DT22|O75036|Q32NB5|Q8TAC5|Q9H441|Q9NUJ9	37	CCDS711.1	.	.	.	.	.	.	.	.	.	.	C	38	6.658635	0.97739	.	.	ENSG00000153936	ENST00000370551;ENST00000370550;ENST00000370548;ENST00000356813	.	.	.	5.81	-0.175	0.13315	.	0.114120	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-23.0488	12.1377	0.53981	0.0:0.5105:0.0:0.4895	.	.	.	.	X	145;145;119;119	.	ENSP00000349268:Y119X	Y	+	3	2	HS2ST1	87322536	0.825000	0.29262	0.998000	0.56505	0.998000	0.95712	-0.071000	0.11505	0.051000	0.15978	0.637000	0.83480	TAC	HS2ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000028279.2		+	ENST00000370550.5	Nonsense_Mutation	SNP	1 : 87549948 - 87549948 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	332	77
ZNF551	90233	broad.mit.edu	37	19	58198782	58198782	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58198782G>A	ENST00000282296.5	+	3	1324	c.1139G>A	c.(1138-1140)cGa>cAa	p.R380Q	ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000594684.1_Intron|AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.R364Q			Q7Z340	ZN551_HUMAN	zinc finger protein 551	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGCCTTTTTCGACACCAGAGA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	GLN/ARG	0,4406		0,0,2203	75	76	76		1091	-4.9	0	19		76	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF551	NM_138347.3	43	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	possibly-damaging	364/655	58198782	1,13005	2203	4300	6503	SO:0001583	missense			BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519	90233	90233		Zinc fingers, C2H2-type, -	25108	protein-coding gene	gene with protein product					NA		Standard	NM_138347	NM_138347	NA	Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.1139G>A	19.37:g.58198782G>A	ENSP00000282296:p.Arg380Gln	NA	B4DU22|P17034|Q8N246|Q9BRY1	37	CCDS12959.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.182|4.182	0.032376|0.032376	0.08101|0.08101	0.0|0.0	1.16E-4|1.16E-4	ENSG00000204519|ENSG00000228006	ENST00000356715;ENST00000282296;ENST00000359821|ENST00000541705	.|.	.|.	.|.	2.43|2.43	-4.86|-4.86	0.03132|0.03132	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|2.890370	.|0.02186	.|N	.|0.060881	T|T	0.26774|0.26774	0.0655|0.0655	L|L	0.50919|0.50919	1.6|1.6	0.09310|0.09310	N|N	1|1	B|.	0.26002|.	0.139|.	B|.	0.17433|.	0.018|.	T|T	0.29397|0.29397	-1.0013|-1.0013	8|7	0.05436|0.02654	T|T	0.98|1	.|.	2.0805|2.0805	0.03634|0.03634	0.4024:0.1262:0.3453:0.1261|0.4024:0.1262:0.3453:0.1261	.|.	380|.	Q7Z340|.	ZN551_HUMAN|.	Q|L	380;364;163|208	.|.	ENSP00000282296:R364Q|ENSP00000437781:S208L	R|S	+|-	2|2	0|0	ZNF551|AC004017.1	62890594|62890594	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.030000|0.030000	0.12068|0.12068	-8.977000|-8.977000	0.00015|0.00015	-1.382000|-1.382000	0.02109|0.02109	-0.367000|-0.367000	0.07326|0.07326	CGA|TCG	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466803.2		+	ENST00000282296.5	Missense_Mutation	SNP	19 : 58198782 - 58198782 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	477	81
FNDC1	84624	broad.mit.edu	37	6	159644586	159644586	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159644586G>A	ENST00000297267.9	+	7	993	c.793G>A	c.(793-795)Gac>Aac	p.D265N	FNDC1_ENST00000340366.6_Missense_Mutation_p.D265N|FNDC1_ENST00000480856.1_3'UTR	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	265	Fibronectin type-III 3.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TGTACCTGACGACATCAGCGT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	154	156			NA	NA	6		NA											NA				159644586		2030	4199	6229	SO:0001583	missense			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694	84624	84624		Fibronectin type III domain containing	21184	protein-coding gene	gene with protein product		609991	fibronectin type III domain containing 2	FNDC2	NA	11347906	Standard	NM_032532	NM_032532	NA	Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.793G>A	6.37:g.159644586G>A	ENSP00000297267:p.Asp265Asn	NA	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	37	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.315|7.315	0.615763|0.615763	0.14129|0.14129	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.52057|.	0.68;0.68|.	5.76|5.76	5.76|5.76	0.90799|0.90799	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61974|0.61974	0.2390|0.2390	L|L	0.45137|0.45137	1.4|1.4	0.58432|0.58432	D|D	0.999997|0.999997	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.55218|0.55218	-0.8175|-0.8175	10|5	0.24483|.	T|.	0.36|.	-40.2157|-40.2157	20.3242|20.3242	0.98691|0.98691	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	265;265|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	N|Q	265|223	ENSP00000297267:D265N;ENSP00000342460:D265N|.	ENSP00000297267:D265N|.	D|R	+|+	1|2	0|0	FNDC1|FNDC1	159564574|159564574	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.087000|0.087000	0.18053|0.18053	9.055000|9.055000	0.93873|0.93873	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GAC|CGA	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042897.3		+	ENST00000297267.9	Missense_Mutation	SNP	6 : 159644586 - 159644586 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	162	25
TPM2	7169	broad.mit.edu	37	9	35685060	35685060	+	Splice_Site	SNP	C	C	A	rs1136580		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35685060C>A	ENST00000378292.3	-	6	1842		c.e6+1		TPM2_ENST00000360958.2_Intron|TPM2_ENST00000378300.5_Intron|TPM2_ENST00000329305.2_Intron	NM_213674.1	NP_998839.1	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	NA					muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGGGTCACTACCTCCTCCTCT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	84	85			NA	NA	9		NA											NA				35685060		2203	4300	6503	SO:0001630	splice_region_variant				CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467	7169	7169		Tropomyosins	12011	protein-coding gene	gene with protein product	nemaline myopathy type 4	190990	arthrogryposis multiplex congenital, distal, type 1	AMCD1	NA	7606936	Standard	NM_003289	NM_003289	NA	Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000378292.3:c.639+1G>T	9.37:g.35685060C>A		NA	A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	37	CCDS6586.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595853	0.66332	.	.	ENSG00000198467	ENST00000378292	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8988	0.88897	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TPM2	35675060	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.647000	0.83462	2.538000	0.85594	0.655000	0.94253	.	TPM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052375.1	Intron	-	ENST00000378292.3	Splice_Site	SNP	9 : 35685060 - 35685060 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	548	114
PEX19	5824	broad.mit.edu	37	1	160253413	160253413	+	Silent	SNP	G	G	A	rs141911166		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160253413G>A	ENST00000368072.5	-	2	108	c.87C>T	c.(85-87)ttC>ttT	p.F29F	PEX19_ENST00000532508.1_5'UTR|PEX19_ENST00000440949.3_5'UTR|DCAF8_ENST00000608310.1_Intron|DCAF8_ENST00000556710.1_Intron	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1			peroxisomal biogenesis factor 19	NA										cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGCTTTATCGAAATCATCAA	0.532		NA											G	0	0	NA	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0	0.05	EXOME	NA	NA	5e-04	SNP								NA				0								G	,	5,4401	9.9+/-24.2	0,5,2198	81	75	77		87,87	1.1	1	1	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PEX19	NM_001193644.1,NM_002857.3	,	0,5,6498	AA,AG,GG	NA	0.0,0.1135,0.0384	,	29/280,29/300	160253413	5,13001	2203	4300	6503	SO:0001819	synonymous_variant			Y09048	CCDS1201.1	1q22	2008-07-18	2004-03-17	2004-03-19	ENSG00000162735	ENSG00000162735	5824	5824			9713	protein-coding gene	gene with protein product	housekeeping gene, 33kD	600279	peroxisomal farnesylated protein	PXF	NA	9339377, 10051604	Standard	NM_002857	NM_002857	NA	Approved	HK33, D1S2223E, PMP1, PMPI, PXMP1		P40855	OTTHUMG00000033112	ENST00000368072.5:c.87C>T	1.37:g.160253413G>A		NA		37	CCDS1201.1																																																																																			PEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080642.2		-	ENST00000368072.5	Silent	SNP	1 : 160253413 - 160253413 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	319	92
PNPO	55163	broad.mit.edu	37	17	46024046	46024046	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46024046C>A	ENST00000225573.4	+	7	789	c.684C>A	c.(682-684)gaC>gaA	p.D228E	PNPO_ENST00000534893.1_Missense_Mutation_p.D133E|PNPO_ENST00000434554.2_Missense_Mutation_p.D185E|RP11-6N17.9_ENST00000582262.1_RNA|PNPO_ENST00000544840.1_Missense_Mutation_p.D210E	NM_018129.3	NP_060599.1	Q9NVS9	PNPO_HUMAN	pyridoxamine 5'-phosphate oxidase	228					pyridoxine biosynthetic process	cytosol	FMN binding|pyridoxamine-phosphate oxidase activity			endometrium(2)|large_intestine(1)|lung(1)|urinary_tract(1)	5					Pyridoxal Phosphate(DB00114)	GCCTGCATGACCGGATAGTCT	0.572		NA									OREG0024505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	82	81			NA	NA	17		NA											NA				46024046		2203	4300	6503	SO:0001583	missense			AF468030	CCDS11522.1	17q21.32	2008-11-27	2006-07-12			ENSG00000108439	55163	55163	1.4.3.5		30260	protein-coding gene	gene with protein product		603287	pyridoxine 5'-phosphate oxidase		NA	9601034, 15182361	Standard	NM_018129	NM_018129	NA	Approved	PDXPO	uc002imo.3	Q9NVS9		ENST00000225573.4:c.684C>A	17.37:g.46024046C>A	ENSP00000225573:p.Asp228Glu	936	D3DTT9	37	CCDS11522.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668792	0.88348	.	.	ENSG00000108439	ENST00000225573;ENST00000434554;ENST00000544840;ENST00000534893	D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71	5.22	4.24	0.50183	Pyridoxine 5&apos (1);Pyridoxamine 5&apos (1);FMN-binding split barrel-related (1);-phosphate oxidase, conserved site (1);-phosphate oxidase, dimerisation, C-terminal (1);FMN-binding split barrel (1);	0.000000	0.85682	D	0.000000	D	0.89188	0.6644	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.97110	1.0;0.986;0.999	D	0.90007	0.4118	10	0.87932	D	0	-5.5804	13.0283	0.58827	0.0:0.9187:0.0:0.0813	.	185;210;228	B4E152;B4E1D7;Q9NVS9	.;.;PNPO_HUMAN	E	228;185;210;133	ENSP00000225573:D228E;ENSP00000399960:D185E;ENSP00000446182:D210E;ENSP00000437480:D133E	ENSP00000225573:D228E	D	+	3	2	PNPO	43379045	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	2.934000	0.48956	2.439000	0.82584	0.561000	0.74099	GAC	PNPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000441407.1		+	ENST00000225573.4	Missense_Mutation	SNP	17 : 46024046 - 46024046 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	518	112
ITPKB	3707	broad.mit.edu	37	1	226834905	226834905	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226834905C>T	ENST00000272117.3	-	3	2208	c.2209G>A	c.(2209-2211)Gac>Aac	p.D737N	ITPKB_ENST00000429204.1_Missense_Mutation_p.D737N			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	737							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CAGGGCGAGTCGAAGTCGGCC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(84;110 1851 5306 33547)							NA				0													177	122	141			NA	NA	1		NA											NA				226834905		2203	4300	6503	SO:0001583	missense			AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	3707	3707	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	inositol 1,4,5-trisphosphate 3-kinase B		NA	1654894, 1330886	Standard	NM_002221	NM_002221	NA	Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.2209G>A	1.37:g.226834905C>T	ENSP00000272117:p.Asp737Asn	NA	Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	37	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802088	0.90538	.	.	ENSG00000143772	ENST00000272117;ENST00000429204	T;T	0.16597	2.33;2.33	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.42131	0.1189	M	0.71206	2.165	0.51767	D	0.999931	D	0.76494	0.999	D	0.66084	0.941	T	0.16394	-1.0404	10	0.48119	T	0.1	-13.0163	19.1764	0.93604	0.0:1.0:0.0:0.0	.	737	P27987	IP3KB_HUMAN	N	737	ENSP00000272117:D737N;ENSP00000411152:D737N	ENSP00000272117:D737N	D	-	1	0	ITPKB	224901528	1.000000	0.71417	0.961000	0.40146	0.986000	0.74619	5.847000	0.69451	2.540000	0.85666	0.655000	0.94253	GAC	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091632.1		-	ENST00000272117.3	Missense_Mutation	SNP	1 : 226834905 - 226834905 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	453	30
IRS4	8471	broad.mit.edu	37	X	107978100	107978100	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107978100T>A	ENST00000372129.2	-	1	1551	c.1475A>T	c.(1474-1476)aAt>aTt	p.N492I		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	492						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TGAGCCCCAATTGTTCATAGG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	122	125			NA	NA	X		NA											NA				107978100		2203	4300	6503	SO:0001583	missense			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124	8471	8471			6128	protein-coding gene	gene with protein product		300904			NA	9261155, 9553137	Standard	NM_003604	NM_003604	NA	Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1475A>T	X.37:g.107978100T>A	ENSP00000361202:p.Asn492Ile	NA		37	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	T	12.04	1.819291	0.32145	.	.	ENSG00000133124	ENST00000372129	T	0.36520	1.25	4.2	3.03	0.35002	.	0.406336	0.24523	N	0.037795	T	0.22282	0.0537	N	0.24115	0.695	0.27948	N	0.937263	B	0.25312	0.123	B	0.24006	0.05	T	0.13124	-1.0521	10	0.45353	T	0.12	-3.4817	7.3493	0.26680	0.0:0.1108:0.0:0.8892	.	492	O14654	IRS4_HUMAN	I	492	ENSP00000361202:N492I	ENSP00000361202:N492I	N	-	2	0	IRS4	107864756	0.029000	0.19370	0.977000	0.42913	0.954000	0.61252	0.552000	0.23376	0.754000	0.32968	0.483000	0.47432	AAT	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057879.1		-	ENST00000372129.2	Missense_Mutation	SNP	X : 107978100 - 107978100 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	620	180
RBM28	55131	broad.mit.edu	37	7	127970908	127970908	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127970908G>A	ENST00000223073.2	-	10	1207	c.1093C>T	c.(1093-1095)Cgc>Tgc	p.R365C	RBM28_ENST00000415472.2_Missense_Mutation_p.R224C	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	NA	RRM 3.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						AAGACAATGCGGACATATTTG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	106	111			NA	NA	7		NA											NA				127970908		2203	4300	6503	SO:0001583	missense			AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344	55131	55131		RNA binding motif (RRM) containing	21863	protein-coding gene	gene with protein product		612074			NA		Standard	NM_018077	NM_018077	NA	Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1093C>T	7.37:g.127970908G>A	ENSP00000223073:p.Arg365Cys	NA	A4D100|Q53H65|Q96CV3	37	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300519	0.40694	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	T;T	0.18810	2.19;2.19	5.52	1.76	0.24704	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.390886	0.25478	N	0.030399	T	0.23846	0.0577	M	0.88310	2.945	0.44289	D	0.997157	B;B	0.33022	0.394;0.044	B;B	0.27796	0.083;0.016	T	0.04229	-1.0967	10	0.54805	T	0.06	-0.0962	3.7697	0.08636	0.3412:0.0:0.4973:0.1615	.	224;365	E9PDD9;Q9NW13	.;RBM28_HUMAN	C	365;224	ENSP00000223073:R365C;ENSP00000390517:R224C	ENSP00000223073:R365C	R	-	1	0	RBM28	127758144	0.962000	0.33011	0.979000	0.43373	0.986000	0.74619	1.934000	0.40163	0.313000	0.23062	0.655000	0.94253	CGC	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349442.2		-	ENST00000223073.2	Missense_Mutation	SNP	7 : 127970908 - 127970908 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	474	86
MATN4	8785	broad.mit.edu	37	20	43933168	43933168	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43933168G>T	ENST00000372754.1	-	2	351	c.343C>A	c.(343-345)Ctg>Atg	p.L115M	MATN4_ENST00000353917.5_Missense_Mutation_p.L115M|MATN4_ENST00000372756.1_Missense_Mutation_p.L115M|MATN4_ENST00000342716.4_Missense_Mutation_p.L115M|MATN4_ENST00000360607.6_Missense_Mutation_p.L115M|MATN4_ENST00000537548.1_Missense_Mutation_p.L115M|MATN4_ENST00000372751.4_Intron			O95460	MATN4_HUMAN	matrilin 4	115	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				TGGATTGCCAGTCCCGTCATG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	17	18			NA	NA	20		NA											NA				43933168		2199	4294	6493	SO:0001583	missense			AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159	8785	8785			6910	protein-coding gene	gene with protein product		603897			NA	9827539, 9027493	Standard		NM_003833	NA	Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.343C>A	20.37:g.43933168G>T	ENSP00000361840:p.Leu115Met	NA	A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	37		.	.	.	.	.	.	.	.	.	.	G	20.1	3.932685	0.73442	.	.	ENSG00000124159	ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132	D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	4.81	3.83	0.44106	.	0.000000	0.34580	N	0.003846	D	0.90202	0.6937	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	0.982;1.0;0.994	D	0.90114	0.4194	10	0.52906	T	0.07	.	11.3513	0.49589	0.1481:0.0:0.8519:0.0	.	115;115;115	A6NNA4;O95460-4;O95460-2	.;.;.	M	115	ENSP00000361840:L115M;ENSP00000361842:L115M;ENSP00000243983:L115M;ENSP00000353819:L115M;ENSP00000343164:L115M;ENSP00000440328:L115M	ENSP00000255132:L115M	L	-	1	2	MATN4	43366582	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.524000	0.67105	2.506000	0.84524	0.462000	0.41574	CTG	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000080335.1		-	ENST00000372754.1	Missense_Mutation	SNP	20 : 43933168 - 43933168 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	124	28
THOC7	80145	broad.mit.edu	37	3	63823667	63823667	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:63823667G>A	ENST00000295899.5	-	4	449	c.337C>T	c.(337-339)Cga>Tga	p.R113*	C3orf49_ENST00000295896.8_Intron|THOC7_ENST00000498422.1_5'UTR	NM_025075.2	NP_079351.2	Q6I9Y2	THOC7_HUMAN	THO complex 7 homolog (Drosophila)	113	Interaction with NIF3L1.|Interaction with THOC5.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	cytoplasm|THO complex part of transcription export complex	protein binding|RNA binding			central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)		CGATTTTTTCGTATTCGTTTT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(48;665 1127 6720 18651)							NA				0													173	160	164			NA	NA	3		NA											NA				63823667		2203	4299	6502	SO:0001587	stop_gained			BC020599	CCDS2900.1, CCDS74957.1	3p14.1	2013-02-11			ENSG00000163634	ENSG00000163634	80145	80145		THO complex subunits	29874	protein-coding gene	gene with protein product	Ngg1 interacting factor 3 like 1 binding protein 1, functional spliceosome-associated protein 24	611965			NA	12951069	Standard	NM_025075	NM_001285404	NA	Approved	NIF3L1BP1, FLJ23445, fSAP24	uc003dlt.4	Q6I9Y2	OTTHUMG00000158767	ENST00000295899.5:c.337C>T	3.37:g.63823667G>A	ENSP00000295899:p.Arg113*	NA	Q6P1L3|Q8WUF2|Q9H5H0	37	CCDS2900.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611060	0.87258	.	.	ENSG00000163634	ENST00000295899	.	.	.	6.07	4.22	0.49857	.	0.061422	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.6777	15.3019	0.73958	0.0:0.0:0.6366:0.3634	.	.	.	.	X	113	.	ENSP00000295899:R113X	R	-	1	2	THOC7	63798707	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.828000	0.55753	0.825000	0.34637	0.655000	0.94253	CGA	THOC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352096.1		-	ENST00000295899.5	Nonsense_Mutation	SNP	3 : 63823667 - 63823667 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	658	110
TSPYL1	7259	broad.mit.edu	37	6	116600781	116600781	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116600781G>A	ENST00000368608.3	-	1	285	c.213C>T	c.(211-213)ccC>ccT	p.P71P	DSE_ENST00000540275.1_Intron	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	71					nucleosome assembly	nucleolus				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		CGGCATCCTGGGGTACGCCCC	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	29	28			NA	NA	6		NA											NA				116600781		2132	4182	6314	SO:0001819	synonymous_variant			AF042181	CCDS34518.1	6q22.1	2014-09-17	2004-04-05	2004-04-07	ENSG00000189241	ENSG00000189241	7259	7259			12382	protein-coding gene	gene with protein product		604714	TSPY-like	TSPYL	NA	9730615	Standard		NM_003309	NA	Approved		uc003pwp.4	Q9H0U9	OTTHUMG00000015427	ENST00000368608.3:c.213C>T	6.37:g.116600781G>A		NA	O75885|Q5TFE6	37	CCDS34518.1																																																																																			TSPYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041929.1		-	ENST00000368608.3	Silent	SNP	6 : 116600781 - 116600781 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	412	29
TTN	7273	broad.mit.edu	37	2	179430078	179430078	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179430078G>A	ENST00000589042.1	-	326	81005	c.80781C>T	c.(80779-80781)aaC>aaT	p.N26927N	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Silent_p.N25286N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.N17987N|TTN_ENST00000460472.2_Silent_p.N17862N|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.N24359N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.N18054N|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25286	Fibronectin type-III 96.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCTTCAACGTTTACTCTTG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	152	156			NA	NA	2		NA											NA				179430078		1854	4099	5953	SO:0001819	synonymous_variant			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.80781C>T	2.37:g.179430078G>A		NA	E7ET18	37	CCDS59435.1																																																																																			TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Silent	SNP	2 : 179430078 - 179430078 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	736	219
TMPRSS6	164656	broad.mit.edu	37	22	37462993	37462993	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37462993C>A	ENST00000381792.2	-	18	2329	c.2189G>T	c.(2188-2190)aGc>aTc	p.S730I	TMPRSS6_ENST00000346753.3_Missense_Mutation_p.S717I|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.S708I|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.S730I			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	717	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CAGAGCGTTGCTGATGGGGCC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	77	86			NA	NA	22		NA											NA				37462993		2203	4300	6503	SO:0001583	missense			AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045	164656	164656		Serine peptidases / Transmembrane	16517	protein-coding gene	gene with protein product		609862			NA		Standard	NM_153609	NM_001289000	NA	Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000381792.2:c.2189G>T	22.37:g.37462993C>A	ENSP00000371211:p.Ser730Ile	NA	B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	37		.	.	.	.	.	.	.	.	.	.	C	18.55	3.647772	0.67358	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856	D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63	4.94	4.94	0.65067	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.95774	0.8625	M	0.85777	2.775	0.47123	D	0.999323	D;D	0.76494	0.998;0.999	D;D	0.77557	0.952;0.99	D	0.96516	0.9382	10	0.87932	D	0	.	18.1606	0.89707	0.0:1.0:0.0:0.0	.	730;717	Q8IU80-5;Q8IU80	.;TMPS6_HUMAN	I	730;717;708;730	ENSP00000371211:S730I;ENSP00000334962:S717I;ENSP00000385453:S708I;ENSP00000384964:S730I	ENSP00000334962:S717I	S	-	2	0	TMPRSS6	35792939	1.000000	0.71417	0.995000	0.50966	0.539000	0.34962	3.654000	0.54453	2.267000	0.75376	0.591000	0.81541	AGC	TMPRSS6-201	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000318821.1		-	ENST00000381792.2	Missense_Mutation	SNP	22 : 37462993 - 37462993 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	268	45
PFKFB1	5207	broad.mit.edu	37	X	54959869	54959869	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54959869C>A	ENST00000375006.3	-	14	1453	c.1383G>T	c.(1381-1383)gaG>gaT	p.E461D	PFKFB1_ENST00000374992.2_Missense_Mutation_p.E261D|PFKFB1_ENST00000545676.1_Missense_Mutation_p.E396D	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	461	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						CCAGGGCTTCCTCAGGTTCCC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	105	116			NA	NA	X		NA											NA				54959869		2203	4300	6503	SO:0001583	missense				CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	5207	5207	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX	NA	9119406	Standard		NM_002625	NA	Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.1383G>T	X.37:g.54959869C>A	ENSP00000364145:p.Glu461Asp	NA	B2RA88|Q5JXS5|Q99951	37	CCDS14364.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.295089	0.23564	.	.	ENSG00000158571	ENST00000375006;ENST00000545676;ENST00000374992	.	.	.	4.28	0.356	0.16074	.	0.161173	0.52532	D	0.000061	T	0.40171	0.1106	L	0.39020	1.185	0.36113	D	0.844969	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.25222	-1.0138	9	0.21540	T	0.41	-4.2766	8.1101	0.30909	0.0:0.5175:0.0:0.4825	.	396;261;461	B4DUN5;Q4VBA9;P16118	.;.;F261_HUMAN	D	461;396;261	.	ENSP00000364131:E261D	E	-	3	2	PFKFB1	54976594	0.335000	0.24748	0.988000	0.46212	0.811000	0.45836	-0.438000	0.06905	-0.027000	0.13873	0.287000	0.19450	GAG	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056847.1		-	ENST00000375006.3	Missense_Mutation	SNP	X : 54959869 - 54959869 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	204	61
SEPT5	5413	broad.mit.edu	37	22	19708076	19708076	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19708076C>T	ENST00000438754.2	+	6	809	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W	SEPT5_ENST00000383045.3_Missense_Mutation_p.R177W|SEPT5_ENST00000455784.2_Missense_Mutation_p.R168W|SEPT5_ENST00000406395.1_Missense_Mutation_p.R168W	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN	septin 5	168					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CGGCAGGCTGCGGCCAGTGGA	0.607		NA											C	0	0	NA	NA	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	1e-04	0.0832	EXOME	NA	NA	0.0028	SNP								NA				0													52	43	46			NA	NA	22		NA											NA				19708076		2203	4300	6503	SO:0001583	missense			Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702	5413	5413		Septins	9164	protein-coding gene	gene with protein product		602724	peanut-like 1 (Drosophila)	PNUTL1	NA	9385360, 9611266	Standard	NM_002688	NM_002688	NA	Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000438754.2:c.529C>T	22.37:g.19708076C>T	ENSP00000394541:p.Arg177Trp	NA	O15251	37	CCDS56224.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	12.99	2.102444	0.37145	.	.	ENSG00000184702	ENST00000455784;ENST00000406395;ENST00000446882;ENST00000412544;ENST00000431124;ENST00000383045;ENST00000438754;ENST00000395109	T;T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57;0.57	2.97	1.89	0.25635	.	0.000000	0.85682	D	0.000000	T	0.68677	0.3027	H	0.95712	3.71	0.80722	D	1	P	0.43094	0.799	P	0.49332	0.607	T	0.72090	-0.4395	10	0.87932	D	0	.	7.2471	0.26127	0.4087:0.453:0.1383:0.0	.	168	Q99719	SEPT5_HUMAN	W	168;168;139;121;206;177;177;121	ENSP00000391311:R168W;ENSP00000384535:R168W;ENSP00000408678:R121W;ENSP00000414488:R206W;ENSP00000372515:R177W;ENSP00000394541:R177W;ENSP00000378541:R121W	ENSP00000372515:R177W	R	+	1	2	SEPT5	18088076	0.098000	0.21812	0.999000	0.59377	0.695000	0.40330	0.445000	0.21677	0.743000	0.32719	0.313000	0.20887	CGG	SEPT5-002	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317938.5		+	ENST00000438754.2	Missense_Mutation	SNP	22 : 19708076 - 19708076 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	341	79
KIAA1598	57698	broad.mit.edu	37	10	118671334	118671334	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118671334G>A	ENST00000260777.10	-	14	1611	c.1326C>T	c.(1324-1326)tgC>tgT	p.C442C	KIAA1598_ENST00000355371.4_Silent_p.C442C|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392901.4_Silent_p.C382C|KIAA1598_ENST00000392903.2_Silent_p.C442C	NM_018330.6	NP_060800.2	A0MZ66	SHOT1_HUMAN	KIAA1598	442					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		CTGCACTTTCGCAGCCTTTCG	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	76	76			NA	NA	10		NA											NA				118671334		2203	4298	6501	SO:0001819	synonymous_variant			BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164	57698	57698			29319	protein-coding gene	gene with protein product		611171			NA	10997877, 17030985	Standard	NM_018330	NM_001127211	NA	Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000260777.10:c.1326C>T	10.37:g.118671334G>A		NA	A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	37	CCDS31293.1																																																																																			KIAA1598-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050553.1		-	ENST00000260777.10	Silent	SNP	10 : 118671334 - 118671334 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	355	66
DNASE1L3	1776	broad.mit.edu	37	3	58183663	58183663	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58183663C>T	ENST00000483681.1	-	8	1170	c.589G>A	c.(589-591)Gtc>Atc	p.V197I	DNASE1L3_ENST00000486455.1_Missense_Mutation_p.V167I|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.V197I|DNASE1L3_ENST00000394549.2_Missense_Mutation_p.V197I			Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	197					apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		TTCTTGGGGACGTAGCTGCAG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(96;1069 1424 4841 43466 52325)							NA				0													91	87	89			NA	NA	3		NA											NA				58183663		2203	4300	6503	SO:0001583	missense			AF047354	CCDS2886.1, CCDS58836.1	3p14.3	2008-05-15			ENSG00000163687	ENSG00000163687	1776	1776			2959	protein-coding gene	gene with protein product	DNase gamma	602244			NA	9205125, 9714828, 14646506	Standard	NM_004944	NM_004944	NA	Approved	DNAS1L3, LSD	uc003djo.2	Q13609	OTTHUMG00000159153	ENST00000483681.1:c.589G>A	3.37:g.58183663C>T	ENSP00000417047:p.Val197Ile	NA	B2R8B1|O75803	37		.	.	.	.	.	.	.	.	.	.	C	24.6	4.553054	0.86127	.	.	ENSG00000163687	ENST00000486455;ENST00000450710;ENST00000318316;ENST00000483681;ENST00000477209;ENST00000394549	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	5.25	4.38	0.52667	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.64402	D	0.000003	T	0.73329	0.3573	M	0.90759	3.145	0.49299	D	0.999778	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.79964	-0.1581	10	0.72032	D	0.01	.	14.0276	0.64594	0.0:0.9276:0.0:0.0724	.	167;197;197	B7Z707;E9PES0;Q13609	.;.;DNSL3_HUMAN	I	167;197;197;197;71;197	ENSP00000419052:V167I;ENSP00000316193:V197I;ENSP00000417047:V197I;ENSP00000417976:V71I;ENSP00000378053:V197I	ENSP00000316193:V197I	V	-	1	0	DNASE1L3	58158703	0.805000	0.28982	0.965000	0.40720	0.994000	0.84299	1.597000	0.36729	1.461000	0.47929	0.591000	0.81541	GTC	DNASE1L3-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000353534.1		-	ENST00000483681.1	Missense_Mutation	SNP	3 : 58183663 - 58183663 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	275	48
HNRNPF	3185	broad.mit.edu	37	10	43882502	43882502	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43882502G>A	ENST00000544000.1	-	4	1238	c.831C>T	c.(829-831)ggC>ggT	p.G277G	HNRNPF_ENST00000356053.3_Silent_p.G277G|HNRNPF_ENST00000337970.3_Silent_p.G277G|HNRNPF_ENST00000357065.4_Silent_p.G277G|HNRNPF_ENST00000443950.2_Silent_p.G277G	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	277					regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						ACTCACTGTCGCCGTATCTGT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	51	53			NA	NA	10		NA											NA				43882502		2203	4300	6503	SO:0001819	synonymous_variant				CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813	3185	3185		RNA binding motif (RRM) containing	5039	protein-coding gene	gene with protein product		601037		HNRPF	NA	7499401	Standard		NM_001098208	NA	Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.831C>T	10.37:g.43882502G>A		NA	B3KM84|Q5T0N2|Q96AU2	37	CCDS7204.1																																																																																			HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047705.2		-	ENST00000544000.1	Silent	SNP	10 : 43882502 - 43882502 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	227	44
SERPINC1	462	broad.mit.edu	37	1	173881079	173881079	+	Missense_Mutation	SNP	C	C	T	rs121909563		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173881079C>T	ENST00000367698.3	-	3	600	c.482G>A	c.(481-483)cGa>cAa	p.R161Q		NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	161			R -> Q (in AT3D; type-II; Geneva).		blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	TCGATAGAGTCGGCAGTTCAG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM900039	SERPINC1	M	rs121909563	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	219	199	206	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	482	5.7	1	1	dbSNP_133	206	0,8600		0,0,4300	no	missense	SERPINC1	NM_000488.3	43	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging	161/465	173881079	1,13005	2203	4300	6503	SO:0001583	missense			X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601	462	462		Serine (or cysteine) peptidase inhibitors	775	protein-coding gene	gene with protein product	antithrombin III, signal peptide antithrombin part 1, coding sequence signal peptide antithrombin part 1, antithrombin (aa 375-432)	107300	serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1	AT3	NA	3979120, 24172014	Standard	NM_000488	NM_000488	NA	Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.482G>A	1.37:g.173881079C>T	ENSP00000356671:p.Arg161Gln	NA	B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	37	CCDS1313.1	.	.	.	.	.	.	.	.	.	.	C	33	5.253842	0.95336	2.27E-4	0.0	ENSG00000117601	ENST00000367698;ENST00000351522	D	0.84516	-1.86	5.66	5.66	0.87406	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.86789	0.6017	L	0.33093	0.98	0.80722	A	1	D	0.89917	1.0	D	0.67382	0.951	D	0.87179	0.2226	9	0.54805	T	0.06	.	19.7525	0.96273	0.0:1.0:0.0:0.0	.	161	P01008	ANT3_HUMAN	Q	161	ENSP00000356671:R161Q	ENSP00000307953:R161Q	R	-	2	0	SERPINC1	172147702	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.669000	0.90835	0.591000	0.81541	CGA	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090734.1		-	ENST00000367698.3	Missense_Mutation	SNP	1 : 173881079 - 173881079 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	893	140
KAT6A	7994	broad.mit.edu	37	8	41791219	41791219	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41791219T>G	ENST00000396930.3	-	18	5062	c.4519A>C	c.(4519-4521)Agt>Cgt	p.S1507R	KAT6A_ENST00000406337.1_Missense_Mutation_p.S1507R|KAT6A_ENST00000265713.2_Missense_Mutation_p.S1507R	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1507					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding				NA						GTGTAGCCACTCTCAAGGGCA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	121	129			NA	NA	8		NA											NA				41791219		2203	4300	6503	SO:0001583	missense			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168	7994	7994		Chromatin-modifying enzymes / K-acetyltransferases, Zinc fingers, C2HC-type containing, Zinc fingers, PHD-type	13013	protein-coding gene	gene with protein product	Monocytic leukemia zinc finger protein	601408	runt-related transcription factor binding protein 2, MYST histone acetyltransferase (monocytic leukemia) 3	ZNF220, RUNXBP2, MYST3	NA	8849440, 8782817	Standard	NM_006766	NM_001099412	NA	Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.4519A>C	8.37:g.41791219T>G	ENSP00000380136:p.Ser1507Arg	NA	Q76L81	37	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	T	14.55	2.568113	0.45798	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.60797	0.16;0.16;0.16	5.76	3.37	0.38596	.	0.170466	0.53938	D	0.000049	T	0.57784	0.2077	N	0.19112	0.55	0.33496	D	0.589302	D	0.69078	0.997	D	0.73380	0.98	T	0.65681	-0.6109	10	0.48119	T	0.1	-2.5365	8.962	0.35854	0.0:0.1623:0.0:0.8377	.	1507	Q92794	KAT6A_HUMAN	R	1507	ENSP00000265713:S1507R;ENSP00000385888:S1507R;ENSP00000380136:S1507R	ENSP00000265713:S1507R	S	-	1	0	KAT6A	41910376	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.835000	0.39181	0.524000	0.28502	0.528000	0.53228	AGT	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318163.1		-	ENST00000396930.3	Missense_Mutation	SNP	8 : 41791219 - 41791219 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	537	113
SPATA25	128497	broad.mit.edu	37	20	44515471	44515471	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44515471C>T	ENST00000372519.3	-	2	413	c.369G>A	c.(367-369)agG>agA	p.R123R		NM_080608.3	NP_542175.1	Q9BR10	CT165_HUMAN	spermatogenesis associated 25	123						integral to membrane					NA						GCATCAGGGGCCTAGGCCTGC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	81	80			NA	NA	20		NA											NA				44515471		2203	4300	6503	SO:0001819	synonymous_variant			AL008726	CCDS13383.1	20q13.12	2011-11-24	2011-11-24	2011-11-24	ENSG00000149634	ENSG00000149634	128497	128497			16158	protein-coding gene	gene with protein product			chromosome 20 open reading frame 165	C20orf165	NA	19240080	Standard		NM_080608	NA	Approved	dJ337O18.8, TSG23	uc002xqf.3	Q9BR10	OTTHUMG00000032628	ENST00000372519.3:c.369G>A	20.37:g.44515471C>T		NA		37	CCDS13383.1																																																																																			SPATA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079541.1		-	ENST00000372519.3	Silent	SNP	20 : 44515471 - 44515471 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	783	141
IGFBP5	3488	broad.mit.edu	37	2	217543756	217543756	+	Silent	SNP	G	G	A	rs146074282		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217543756G>A	ENST00000233813.4	-	2	1133	c.384C>T	c.(382-384)gcC>gcT	p.A128A		NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	128					negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGTCTCCTCGGCCATCTCAG	0.632		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	79	72	74		384	-10.1	0.2	2	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IGFBP5	NM_000599.3		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		128/273	217543756	1,13005	2203	4300	6503	SO:0001819	synonymous_variant				CCDS2405.1	2q35	2014-09-16			ENSG00000115461	ENSG00000115461	3488	3488			5474	protein-coding gene	gene with protein product		146734			NA	7511611	Standard	NM_000599	NM_000599	NA	Approved		uc002vgj.4	P24593	OTTHUMG00000133058	ENST00000233813.4:c.384C>T	2.37:g.217543756G>A		NA	Q5U0A3	37	CCDS2405.1																																																																																			IGFBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256674.2		-	ENST00000233813.4	Silent	SNP	2 : 217543756 - 217543756 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	488	37
MEDAG	84935	broad.mit.edu	37	13	31495263	31495263	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:31495263G>T	ENST00000380482.4	+	3	826	c.501G>T	c.(499-501)caG>caT	p.Q167H	TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000590721.1_RNA	NM_032849.3	NP_116238			mesenteric estrogen-dependent adipogenesis	NA											NA						ACCGGCTTCAGGTAAGCCTAG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	82	86			NA	NA	13		NA											NA				31495263		2203	4300	6503	SO:0001630	splice_region_variant			AB055407	CCDS9338.1	13q12.3	2013-10-11	2012-09-26	2012-09-26	ENSG00000102802	ENSG00000102802	84935	84935			25926	protein-coding gene	gene with protein product	mesenteric estrogen-dependent adipose 4, activated in W/Wv mouse stomach 3 homolog		chromosome 13 open reading frame 33	C13orf33	NA	22510272	Standard	NM_032849	NM_032849	NA	Approved	FLJ14834, AWMS3, MEDA-4	uc001uth.4	Q5VYS4	OTTHUMG00000016679	ENST00000380482.4:c.501+1G>T	13.37:g.31495263G>T		NA		37	CCDS9338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.99|15.99	2.996779|2.996779	0.54147|0.54147	.|.	.|.	ENSG00000102802|ENSG00000102802	ENST00000380482|ENST00000428944	T|.	0.47869|.	0.83|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.195191|.	0.45606|.	D|.	0.000345|.	T|T	0.53948|0.53948	0.1828|0.1828	L|L	0.27053|0.27053	0.805|0.805	0.40734|0.40734	D|D	0.982773|0.982773	P|.	0.47677|.	0.899|.	P|.	0.53809|.	0.735|.	T|T	0.51865|0.51865	-0.8651|-0.8651	10|5	0.72032|.	D|.	0.01|.	-11.2724|-11.2724	15.5273|15.5273	0.75923|0.75923	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	167|.	Q5VYS4|.	CM033_HUMAN|.	H|M	167|104	ENSP00000369849:Q167H|.	ENSP00000369849:Q167H|.	Q|R	+|+	3|2	2|0	C13orf33|C13orf33	30393263|30393263	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	5.741000|5.741000	0.68638|0.68638	2.408000|2.408000	0.81797|0.81797	0.467000|0.467000	0.42956|0.42956	CAG|AGG	MEDAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044375.1	Missense_Mutation	+	ENST00000380482.4	Splice_Site	SNP	13 : 31495263 - 31495263 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	131	22
CLGN	1047	broad.mit.edu	37	4	141316994	141316994	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141316994C>A	ENST00000325617.5	-	10	1568	c.1128G>T	c.(1126-1128)ctG>ctT	p.L376L	CLGN_ENST00000414773.1_Silent_p.L376L|CLGN_ENST00000537281.1_Silent_p.L376L	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	376					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					GATTATCGACCAGTGGAGGTC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	97	99			NA	NA	4		NA											NA				141316994		2203	4300	6503	SO:0001819	synonymous_variant			D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132	1047	1047			2060	protein-coding gene	gene with protein product		601858			NA		Standard	NM_004362	NM_004362	NA	Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.1128G>T	4.37:g.141316994C>A		NA	B3KS90|D3DNY8	37	CCDS3751.1																																																																																			CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257272.2		-	ENST00000325617.5	Silent	SNP	4 : 141316994 - 141316994 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	424	73
SLC5A8	160728	broad.mit.edu	37	12	101560474	101560474	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101560474C>A	ENST00000536262.2	-	12	1882	c.1324G>T	c.(1324-1326)Gca>Tca	p.A442S		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	442					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCAACAAGTGCTCCCTGTAAA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(60;420 1056 13605 22380 47675)							NA				0													63	57	59			NA	NA	12		NA											NA				101560474		2203	4300	6503	SO:0001583	missense			AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870	160728	160728		Solute carriers	19119	protein-coding gene	gene with protein product		608044	solute carrier family 5 (iodide transporter), member 8		NA	12107270, 12829793	Standard	NM_145913	NM_145913	NA	Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.1324G>T	12.37:g.101560474C>A	ENSP00000445340:p.Ala442Ser	NA	Q2TB99|Q7Z2H9	37	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449801	0.43531	.	.	ENSG00000256870	ENST00000536262	D	0.95447	-3.71	5.54	3.61	0.41365	.	0.125811	0.53938	D	0.000060	D	0.95667	0.8591	M	0.91459	3.21	0.54753	D	0.999986	B	0.30686	0.29	B	0.34931	0.192	D	0.94865	0.8025	10	0.56958	D	0.05	.	9.3499	0.38131	0.1436:0.7793:0.0:0.0771	.	442	Q8N695	SC5A8_HUMAN	S	442	ENSP00000445340:A442S	ENSP00000445340:A442S	A	-	1	0	SLC5A8	100084605	1.000000	0.71417	0.987000	0.45799	0.597000	0.36814	3.542000	0.53625	1.338000	0.45544	-0.150000	0.13652	GCA	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409401.1		-	ENST00000536262.2	Missense_Mutation	SNP	12 : 101560474 - 101560474 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	117	19
SLC12A1	6557	broad.mit.edu	37	15	48537060	48537060	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48537060C>T	ENST00000396577.3	+	11	1626	c.1411C>T	c.(1411-1413)Cga>Tga	p.R471*	SLC12A1_ENST00000558405.1_Nonsense_Mutation_p.R471*|SLC12A1_ENST00000380993.3_Nonsense_Mutation_p.R471*	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	471					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CTCAAGATGTCGACATGAACC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	119	126			NA	NA	15		NA											NA				48537060		2198	4297	6495	SO:0001587	stop_gained				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803	6557	6557		Solute carriers	10910	protein-coding gene	gene with protein product		600839			NA	8640224	Standard		NM_000338	NA	Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000396577.3:c.1411C>T	15.37:g.48537060C>T	ENSP00000379822:p.Arg471*	NA	A8JYA2	37	CCDS53940.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889681	0.91889	.	.	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000396577	.	.	.	5.58	3.45	0.39498	.	1.009920	0.07935	N	0.978155	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	3.2468	0.06799	0.22:0.3429:0.3488:0.0882	.	.	.	.	X	284;471;471	.	ENSP00000370381:R471X	R	+	1	2	SLC12A1	46324352	0.000000	0.05858	0.852000	0.33557	0.672000	0.39443	0.158000	0.16422	2.642000	0.89623	0.655000	0.94253	CGA	SLC12A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254341.1		+	ENST00000396577.3	Nonsense_Mutation	SNP	15 : 48537060 - 48537060 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	221	33
CREB3L2	64764	broad.mit.edu	37	7	137569813	137569813	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137569813G>A	ENST00000330387.6	-	10	1549	c.1198C>T	c.(1198-1200)Ccc>Tcc	p.P400S	CREB3L2_ENST00000456390.1_Missense_Mutation_p.P400S	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	400					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GAAGGATAGGGCCCGTAGCCT	0.587		NA	T	FUS	fibromyxoid sarcoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		7	7q34	64764	cAMP responsive element binding protein 3-like 2		M	0													81	73	76			NA	NA	7		NA											NA				137569813		2203	4300	6503	SO:0001583	missense			AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158	64764	64764		basic leucine zipper proteins	23720	protein-coding gene	gene with protein product		608834			NA		Standard	NM_194071	NM_194071	NA	Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.1198C>T	7.37:g.137569813G>A	ENSP00000329140:p.Pro400Ser	NA	Q6P454|Q6ZMR6	37	CCDS34760.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972067	0.74246	.	.	ENSG00000182158	ENST00000330387;ENST00000456390	T;T	0.65916	0.16;-0.18	5.69	5.69	0.88448	.	0.348076	0.30085	N	0.010452	T	0.64746	0.2626	L	0.55481	1.735	0.80722	D	1	B;B	0.30406	0.215;0.278	B;B	0.36335	0.104;0.222	T	0.61559	-0.7038	10	0.41790	T	0.15	-0.013	19.8786	0.96886	0.0:0.0:1.0:0.0	.	400;400	Q70SY1-2;Q70SY1	.;CR3L2_HUMAN	S	400	ENSP00000329140:P400S;ENSP00000403550:P400S	ENSP00000329140:P400S	P	-	1	0	CREB3L2	137220353	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	6.877000	0.75562	2.708000	0.92522	0.650000	0.86243	CCC	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341462.1		-	ENST00000330387.6	Missense_Mutation	SNP	7 : 137569813 - 137569813 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	370	73
RB1CC1	9821	broad.mit.edu	37	8	53573722	53573722	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:53573722G>T	ENST00000025008.5	-	10	2001	c.1478C>A	c.(1477-1479)cCt>cAt	p.P493H	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.P493H|RB1CC1_ENST00000435644.2_Missense_Mutation_p.P493H	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	493					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GTACATCTGAGGAACTGTACT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(180;1701 2102 13475 42023 52570)							NA				0													109	104	105			NA	NA	8		NA											NA				53573722		2203	4300	6503	SO:0001583	missense			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287	9821	9821			15574	protein-coding gene	gene with protein product	200 kDa FAK family kinase-interacting protein, phosphatase 1, regulatory subunit 131	606837			NA	11850849, 7724523, 18443221	Standard	NM_014781	NM_014781	NA	Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.1478C>A	8.37:g.53573722G>T	ENSP00000025008:p.Pro493His	NA	Q8WVU9|Q92601	37	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.547625	0.65311	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.50813	0.73;0.73;0.73	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.73133	0.3548	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.76881	-0.2795	10	0.87932	D	0	-16.9857	19.4663	0.94943	0.0:0.0:1.0:0.0	.	493;493	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	H	493	ENSP00000025008:P493H;ENSP00000396067:P493H;ENSP00000445960:P493H	ENSP00000025008:P493H	P	-	2	0	RB1CC1	53736275	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.781000	0.99029	2.675000	0.91044	0.650000	0.86243	CCT	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378011.1		-	ENST00000025008.5	Missense_Mutation	SNP	8 : 53573722 - 53573722 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	521	118
RPS6KA4	8986	broad.mit.edu	37	11	64137088	64137088	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64137088G>A	ENST00000528057.1	+	13	1666	c.1578G>A	c.(1576-1578)ccG>ccA	p.P526P	RPS6KA4_ENST00000294261.4_Intron|RPS6KA4_ENST00000334205.4_Silent_p.P533P	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	533	Protein kinase 2.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						ACCTCAAGCCGGAGGTGGGCG	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	16	15			NA	NA	11		NA											NA				64137088		2173	4247	6420	SO:0001819	synonymous_variant			AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302	8986	8986			10433	protein-coding gene	gene with protein product		603606	ribosomal protein S6 kinase, 90kD, polypeptide 4		NA	9792677, 9687510	Standard	NM_003942	XM_005274379	NA	Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000528057.1:c.1578G>A	11.37:g.64137088G>A		NA	A8K7Z8|O75585|Q53ES8	37																																																																																				RPS6KA4-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000385364.1		+	ENST00000528057.1	Silent	SNP	11 : 64137088 - 64137088 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	132	27
MAP1B	4131	broad.mit.edu	37	5	71495820	71495820	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71495820G>A	ENST00000296755.7	+	5	6936	c.6638G>A	c.(6637-6639)cGc>cAc	p.R2213H		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2213						microtubule|microtubule associated complex	structural molecule activity	p.R2213H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCTTCGCCACGCCACCCTGAT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(17;367 822 11631 31730 47712)							NA				1	Substitution - Missense(1)	prostate(1)											121	113	115			NA	NA	5		NA											NA				71495820		2203	4300	6503	SO:0001583	missense			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711	4131	4131			6836	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 102	157129			NA	1881920	Standard	NM_005909	NM_005909	NA	Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.6638G>A	5.37:g.71495820G>A	ENSP00000296755:p.Arg2213His	NA	A2BDK5	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.471969	0.43942	.	.	ENSG00000131711	ENST00000296755	T	0.03386	3.95	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000005	T	0.15219	0.0367	L	0.51422	1.61	0.36631	D	0.876291	D;D	0.76494	0.998;0.999	D;P	0.70935	0.971;0.854	T	0.00500	-1.1703	10	0.44086	T	0.13	-11.5509	20.3539	0.98825	0.0:0.0:1.0:0.0	.	2087;2213	A2BDK6;P46821	.;MAP1B_HUMAN	H	2213	ENSP00000296755:R2213H	ENSP00000296755:R2213H	R	+	2	0	MAP1B	71531576	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.954000	0.63631	2.826000	0.97356	0.655000	0.94253	CGC	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000218561.6		+	ENST00000296755.7	Missense_Mutation	SNP	5 : 71495820 - 71495820 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	887	167
NUMBL	9253	broad.mit.edu	37	19	41188694	41188694	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41188694G>A	ENST00000252891.4	-	5	505	c.338C>T	c.(337-339)tCc>tTc	p.S113F	NUMBL_ENST00000598779.1_Missense_Mutation_p.S72F|NUMBL_ENST00000540131.1_Missense_Mutation_p.S72F	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	113	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			AGACTTCACGGACTTTCGGCC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	88	91			NA	NA	19		NA											NA				41188694		2203	4300	6503	SO:0001583	missense			AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245	9253	9253			8061	protein-coding gene	gene with protein product		604018	numb (Drosophila) homolog-like		NA	9225980, 9303539	Standard	NM_004756	XM_006723471	NA	Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.338C>T	19.37:g.41188694G>A	ENSP00000252891:p.Ser113Phe	NA	Q7Z4J9	37	CCDS12561.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065526	0.76187	.	.	ENSG00000105245	ENST00000252891;ENST00000540131	T;T	0.20069	2.1;2.1	4.77	4.77	0.60923	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.061068	0.64402	D	0.000003	T	0.25232	0.0613	N	0.11201	0.11	0.43347	D	0.995408	D;D	0.67145	0.996;0.996	P;P	0.59546	0.859;0.859	T	0.25293	-1.0136	10	0.72032	D	0.01	-30.3947	16.9155	0.86150	0.0:0.0:1.0:0.0	.	113;113	A8K033;Q9Y6R0	.;NUMBL_HUMAN	F	113;72	ENSP00000252891:S113F;ENSP00000442759:S72F	ENSP00000252891:S113F	S	-	2	0	NUMBL	45880534	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	5.147000	0.64851	2.346000	0.79739	0.585000	0.79938	TCC	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462749.2		-	ENST00000252891.4	Missense_Mutation	SNP	19 : 41188694 - 41188694 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	372	15
SERPINB10	5273	broad.mit.edu	37	18	61582747	61582747	+	Translation_Start_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61582747G>A	ENST00000238508.3	+	2	62	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10	NA										breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				TTTCCTCAATGGACTCTCTAG	0.343		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	18		NA											NA				61582747		2203	4300	6503	SO:0001582	initiator_codon_variant			U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550	5273	5273		Serine (or cysteine) peptidase inhibitors	8942	protein-coding gene	gene with protein product	protease inhibitor 10 (ovalbumin type, bomapin)	602058	serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10	PI10	NA	9268635, 10871600, 24172014	Standard	NM_005024	NM_005024	NA	Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.3G>A	18.37:g.61582747G>A	ENSP00000238508:p.Met1Ile	NA		37	CCDS11990.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.42|15.42	2.828984|2.828984	0.50845|0.50845	.|.	.|.	ENSG00000242550|ENSG00000242550	ENST00000397996;ENST00000418725|ENST00000238508	.|D	.|0.82803	.|-1.65	5.97|5.97	5.1|5.1	0.69264|0.69264	.|Serpin domain (1);	.|0.203982	.|0.50627	.|D	.|0.000104	D|D	0.90693|0.90693	0.7080|0.7080	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D;B	.|0.63880	.|0.993;0.18	.|D;B	.|0.70227	.|0.968;0.03	D|D	0.91872|0.91872	0.5508|0.5508	4|9	.|0.87932	.|D	.|0	.|.	13.9667|13.9667	0.64213|0.64213	0.0732:0.0:0.9268:0.0|0.0732:0.0:0.9268:0.0	.|.	.|1;1	.|P48595;B2RC45	.|SPB10_HUMAN;.	R|I	214;187|1	.|ENSP00000238508:M1I	.|ENSP00000238508:M1I	G|M	+|+	1|3	0|0	SERPINB10|SERPINB10	59733727|59733727	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.216000|0.216000	0.24613|0.24613	3.722000|3.722000	0.54948|0.54948	1.541000|1.541000	0.49316|0.49316	0.650000|0.650000	0.86243|0.86243	GGA|ATG	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000134012.3	Missense_Mutation	+	ENST00000238508.3	Start_Codon_SNP	SNP	18 : 61582747 - 61582747 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	519	24
GALT	2592	broad.mit.edu	37	9	34648390	34648390	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34648390C>A	ENST00000556278.1	+	4	429	c.369C>A	c.(367-369)gcC>gcA	p.A123A	GALT_ENST00000450095.2_Silent_p.A99A|GALT_ENST00000378842.3_Silent_p.A208A			P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	208			R -> G (in GALCT).|R -> Q (in GALCT).		galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		CTCAGCAGGCCTATAAGAGTC	0.572		NA							Galactosemia					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	88	87			NA	NA	9		NA											NA				34648390		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	Galactose-1-Phosphate Uridyltransferase Deficiency	M60091	CCDS6565.1, CCDS59122.1	9p13	2013-01-08			ENSG00000213930	ENSG00000213930	2592	2592	2.7.7.12		4135	protein-coding gene	gene with protein product		606999			NA		Standard	NM_000155	NM_000155	NA	Approved		uc003zve.4	P07902	OTTHUMG00000019836	ENST00000556278.1:c.369C>A	9.37:g.34648390C>A		NA	Q14355|Q14356|Q14357|Q14358|Q14359|Q14360|Q14361|Q14363|Q14364|Q14365|Q14369|Q14370|Q14371|Q14372|Q14373|Q14374|Q14375|Q14377|Q14378|Q14380|Q14381|Q14382|Q14383|Q14384|Q14385|Q14386|Q14387|Q14389|Q16766|Q53XK1|Q5VZ81|Q96BY1	37																																																																																				GALT-001	PUTATIVE	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000410623.1		+	ENST00000556278.1	Silent	SNP	9 : 34648390 - 34648390 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	521	101
TTC9B	148014	broad.mit.edu	37	19	40724059	40724059	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40724059C>T	ENST00000311308.6	-	1	247	c.230G>A	c.(229-231)cGa>cAa	p.R77Q		NM_152479.5	NP_689692.2	Q8N6N2	TTC9B_HUMAN	tetratricopeptide repeat domain 9B	77							binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						CTTCTTCTCTCGATAGCAGCG	0.736		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	28	29			NA	NA	19		NA											NA				40724059		2202	4298	6500	SO:0001583	missense			BC029539	CCDS12550.1	19q13.2	2013-01-11				ENSG00000174521	148014	148014		Tetratricopeptide (TTC) repeat domain containing	26395	protein-coding gene	gene with protein product					NA		Standard	NM_152479	NM_152479	NA	Approved	FLJ30373	uc002onc.3	Q8N6N2		ENST00000311308.6:c.230G>A	19.37:g.40724059C>T	ENSP00000311760:p.Arg77Gln	NA	A8K0I5|Q96NP9	37	CCDS12550.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829604	0.91036	.	.	ENSG00000174521	ENST00000311308	T	0.15718	2.4	4.46	4.46	0.54185	Tetratricopeptide-like helical (1);	0.154213	0.43260	N	0.000583	T	0.15089	0.0364	L	0.42529	1.33	0.35092	D	0.764423	D	0.53312	0.959	B	0.42462	0.388	T	0.18241	-1.0343	10	0.52906	T	0.07	-4.3192	8.5051	0.33181	0.0:0.8921:0.0:0.1079	.	77	Q8N6N2	TTC9B_HUMAN	Q	77	ENSP00000311760:R77Q	ENSP00000311760:R77Q	R	-	2	0	TTC9B	45415899	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.290000	0.65661	2.049000	0.60858	0.289000	0.19496	CGA	TTC9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462604.1		-	ENST00000311308.6	Missense_Mutation	SNP	19 : 40724059 - 40724059 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	198	13
GRB14	2888	broad.mit.edu	37	2	165353553	165353553	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:165353553A>G	ENST00000263915.3	-	12	1885	c.1347T>C	c.(1345-1347)gcT>gcC	p.A449A	GRB14_ENST00000497306.1_5'UTR|GRB14_ENST00000543549.1_Silent_p.A362A	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	449	SH2.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TCAATCGCTGAGCCTCATCTC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	81	83			NA	NA	2		NA											NA				165353553		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290	2888	2888		Pleckstrin homology (PH) domain containing, SH2 domain containing	4565	protein-coding gene	gene with protein product		601524			NA	8812444	Standard		XM_005246477	NA	Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.1347T>C	2.37:g.165353553A>G		NA	Q7Z6I1	37	CCDS2222.1																																																																																			GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255180.2		-	ENST00000263915.3	Silent	SNP	2 : 165353553 - 165353553 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	18
PCOLCE	5118	broad.mit.edu	37	7	100201642	100201642	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100201642G>A	ENST00000223061.5	+	3	545	c.265G>A	c.(265-267)Gcc>Acc	p.A89T	PCOLCE-AS1_ENST00000446022.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE_ENST00000496269.1_3'UTR	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	89	CUB 1.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GCTGCACCCCGCCTGCCGCTA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	69	67			NA	NA	7		NA											NA				100201642		2203	4300	6503	SO:0001583	missense			L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333	5118	5118			8738	protein-coding gene	gene with protein product	procollagen, type 1, COOH-terminal proteinase enhancer, procollagen C-proteinase enhancer 1	600270			NA	8824813, 9799793	Standard	NM_002593	NM_002593	NA	Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.265G>A	7.37:g.100201642G>A	ENSP00000223061:p.Ala89Thr	NA	B2R9E1|O14550	37	CCDS5700.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.731645	0.30684	.	.	ENSG00000106333	ENST00000223061	T	0.18016	2.24	4.6	-4.01	0.04045	CUB (5);	1.202500	0.05722	N	0.597935	T	0.03827	0.0108	N	0.00926	-1.1	0.20403	N	0.999906	B;B	0.20459	0.011;0.045	B;B	0.17098	0.006;0.017	T	0.38394	-0.9663	10	0.02654	T	1	-8.2624	5.337	0.15963	0.2589:0.0:0.1869:0.5542	.	89;89	B4DPJ4;Q15113	.;PCOC1_HUMAN	T	89	ENSP00000223061:A89T	ENSP00000223061:A89T	A	+	1	0	PCOLCE	100039578	0.000000	0.05858	0.024000	0.17045	0.968000	0.65278	-0.651000	0.05372	-0.499000	0.06623	0.462000	0.41574	GCC	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345285.1		+	ENST00000223061.5	Missense_Mutation	SNP	7 : 100201642 - 100201642 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	589	100
ADCY9	115	broad.mit.edu	37	16	4164631	4164631	+	Silent	SNP	C	C	T	rs148841917	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4164631C>T	ENST00000294016.3	-	2	1351	c.813G>A	c.(811-813)tcG>tcA	p.S271S		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	271					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CGGCTCCGGGCGAGGGGAAGC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		25,4369		0,25,2172	29	29	29		813	-4.5	0	16	dbSNP_134	29	0,8598		0,0,4299	no	coding-synonymous	ADCY9	NM_001116.3		0,25,6471	TT,TC,CC	NA	0.0,0.569,0.1924		271/1354	4164631	25,12967	2197	4299	6496	SO:0001819	synonymous_variant			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	115	115	4.6.1.1	Adenylate cyclases	240	protein-coding gene	gene with protein product		603302			NA	9628827	Standard		NM_001116	NA	Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.813G>A	16.37:g.4164631C>T		NA	A7E2V5|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	37	CCDS32382.1																																																																																			ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438076.1		-	ENST00000294016.3	Silent	SNP	16 : 4164631 - 4164631 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	73
SUPT6H	6830	broad.mit.edu	37	17	27010820	27010820	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27010820G>A	ENST00000314616.6	+	17	2498	c.2215G>A	c.(2215-2217)Gaa>Aaa	p.E739K	SUPT6H_ENST00000347486.4_Missense_Mutation_p.E739K	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	739					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TGAAGCCAAGGAATATGTCAT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	53	53			NA	NA	17		NA											NA				27010820		2203	4300	6503	SO:0001583	missense			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111	6830	6830		SH2 domain containing	11470	protein-coding gene	gene with protein product		601333	suppressor of Ty (S.cerevisiae) 6 homolog		NA	8786132	Standard	NM_003170	XM_005258026	NA	Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.2215G>A	17.37:g.27010820G>A	ENSP00000319104:p.Glu739Lys	NA	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	37	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960195	0.74016	.	.	ENSG00000109111	ENST00000314616	T	0.45276	0.9	5.39	5.39	0.77823	Tex-like domain (1);	0.159904	0.56097	D	0.000037	T	0.38134	0.1029	L	0.42245	1.32	0.58432	D	0.999999	B	0.31893	0.345	B	0.29353	0.101	T	0.12116	-1.0560	10	0.27082	T	0.32	-8.0924	19.2162	0.93780	0.0:0.0:1.0:0.0	.	739	Q7KZ85	SPT6H_HUMAN	K	739	ENSP00000319104:E739K	ENSP00000319104:E739K	E	+	1	0	SUPT6H	24034947	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.557000	0.86248	0.650000	0.86243	GAA	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000446422.2		+	ENST00000314616.6	Missense_Mutation	SNP	17 : 27010820 - 27010820 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	205	46
PCGF5	84333	broad.mit.edu	37	10	93011174	93011174	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93011174C>T	ENST00000336126.5	+	6	683	c.451C>T	c.(451-453)Caa>Taa	p.Q151*	PCGF5_ENST00000543648.1_Nonsense_Mutation_p.Q151*	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						AAATAATGGGCAATCAGGGGA	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(178;732 2696 46441 50370)							NA				0													131	124	126			NA	NA	10		NA											NA				93011174		2203	4299	6502	SO:0001587	stop_gained			AL832003	CCDS7413.1	10q23.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000180628	ENSG00000180628	84333	84333		RING-type (C3HC4) zinc fingers, Polycomb group ring fingers	28264	protein-coding gene	gene with protein product			ring finger protein (C3HC4 type) 159	RNF159	NA	8076819	Standard	NM_032373	NM_001256549	NA	Approved	MGC16202	uc001khh.4	Q86SE9	OTTHUMG00000018740	ENST00000336126.5:c.451C>T	10.37:g.93011174C>T	ENSP00000337500:p.Gln151*	NA	B7Z892|D3DR33|Q6PK47|Q86TD0	37	CCDS7413.1	.	.	.	.	.	.	.	.	.	.	C	39	7.802879	0.98498	.	.	ENSG00000180628	ENST00000543648;ENST00000336126	.	.	.	6.06	6.06	0.98353	.	0.112587	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-17.7437	20.6397	0.99537	0.0:1.0:0.0:0.0	.	.	.	.	X	151	.	ENSP00000337500:Q151X	Q	+	1	0	PCGF5	93001154	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	7.174000	0.77620	2.880000	0.98712	0.650000	0.86243	CAA	PCGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049363.1		+	ENST00000336126.5	Nonsense_Mutation	SNP	10 : 93011174 - 93011174 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	480	88
PCDH18	54510	broad.mit.edu	37	4	138452051	138452051	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:138452051T>C	ENST00000507846.1	-	2	1085	c.532A>G	c.(532-534)Aag>Gag	p.K178E	PCDH18_ENST00000344876.4_Missense_Mutation_p.K398E|PCDH18_ENST00000412923.2_Missense_Mutation_p.K398E|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron			Q9HCL0	PCD18_HUMAN	protocadherin 18	398	Cadherin 2.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CCATGAAGCTTACAAACTATT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	101	99			NA	NA	4		NA											NA				138452051		2203	4300	6503	SO:0001583	missense			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184	54510	54510		Cadherins / Protocadherins : Non-clustered	14268	protein-coding gene	gene with protein product		608287			NA	10835267, 11549318	Standard	NM_019035	XM_005263070	NA	Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000507846.1:c.532A>G	4.37:g.138452051T>C	ENSP00000425903:p.Lys178Glu	NA	A8K7K3|B7ZKT1|Q52LS2	37		.	.	.	.	.	.	.	.	.	.	T	9.072	0.997051	0.19043	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.51325	0.71;0.71;0.71	6.03	6.03	0.97812	Cadherin (4);Cadherin-like (1);	0.146640	0.30593	N	0.009295	T	0.29749	0.0743	N	0.03967	-0.31	0.80722	D	1	B;B;B	0.33022	0.108;0.006;0.394	B;B;B	0.37015	0.153;0.016;0.239	T	0.25502	-1.0130	10	0.21540	T	0.41	.	16.5724	0.84622	0.0:0.0:0.0:1.0	.	178;398;398	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	E	398;398;178	ENSP00000355082:K398E;ENSP00000390688:K398E;ENSP00000425903:K178E	ENSP00000355082:K398E	K	-	1	0	PCDH18	138671501	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	4.823000	0.62694	2.313000	0.78055	0.455000	0.32223	AAG	PCDH18-003	NOVEL	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000364616.1		-	ENST00000507846.1	Missense_Mutation	SNP	4 : 138452051 - 138452051 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	512	100
OR5B3	441608	broad.mit.edu	37	11	58170524	58170524	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58170524C>T	ENST00000309403.2	-	1	358	c.359G>A	c.(358-360)cGc>cAc	p.R120H		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R120L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGCTGCATAGCGGTCATAGGC	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)	haematopoietic_and_lymphoid_tissue(1)											131	117	122			NA	NA	11		NA											NA				58170524		2201	4295	6496	SO:0001583	missense			AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769	441608	441608		GPCR / Class A : Olfactory receptors	8324	protein-coding gene	gene with protein product				OR5B13	NA		Standard	NM_001005469	NM_001005469	NA	Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.359G>A	11.37:g.58170524C>T	ENSP00000308270:p.Arg120His	NA	Q6IEV6	37	CCDS31549.1	.	.	.	.	.	.	.	.	.	.	c	14.48	2.547375	0.45383	.	.	ENSG00000172769	ENST00000309403	T	0.77489	-1.1	3.96	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	0.136459	0.34156	N	0.004202	T	0.77485	0.4137	M	0.85630	2.765	0.35002	D	0.756051	P	0.50369	0.934	B	0.40602	0.334	D	0.84664	0.0708	10	0.66056	D	0.02	-27.9791	10.5958	0.45336	0.0:0.9022:0.0:0.0978	.	120	Q8NH48	OR5B3_HUMAN	H	120	ENSP00000308270:R120H	ENSP00000308270:R120H	R	-	2	0	OR5B3	57927100	0.985000	0.35326	0.999000	0.59377	0.517000	0.34286	2.456000	0.44997	1.023000	0.39654	-0.237000	0.12165	CGC	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394886.1		-	ENST00000309403.2	Missense_Mutation	SNP	11 : 58170524 - 58170524 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	571	94
CD163L1	283316	broad.mit.edu	37	12	7531717	7531717	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7531717G>A	ENST00000416109.2	-	9	2276	c.2258C>T	c.(2257-2259)cCt>cTt	p.P753L	CD163L1_ENST00000313599.3_Missense_Mutation_p.P743L|CD163L1_ENST00000396630.1_Missense_Mutation_p.P743L|CD163L1_ENST00000544331.1_Intron	NM_174941.4	NP_777601.2	Q9NR16	C163B_HUMAN	CD163 molecule-like 1	743	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGTGAAATGAGGCTCTCTGGA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	107	113			NA	NA	12		NA											NA				7531717		2203	4300	6503	SO:0001583	missense			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675	283316	283316			30375	protein-coding gene	gene with protein product		606079	CD163 antigen-like 1		NA	11124526, 11086079	Standard	NM_174941	XM_005253348	NA	Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000416109.2:c.2258C>T	12.37:g.7531717G>A	ENSP00000393474:p.Pro753Leu	NA	C9JHR7|Q6UWC2	37		.	.	.	.	.	.	.	.	.	.	G	9.332	1.060813	0.19987	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.34667	1.35;1.35;1.35	2.69	-5.38	0.02673	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	2.187460	0.03114	U	0.162876	T	0.25382	0.0617	N	0.26042	0.785	0.09310	N	1	B;B	0.26635	0.155;0.155	B;B	0.31495	0.131;0.131	T	0.27536	-1.0071	10	0.51188	T	0.08	.	5.5718	0.17200	0.4564:0.1455:0.3982:0.0	.	753;743	E7EVK4;Q9NR16	.;C163B_HUMAN	L	743;753;743	ENSP00000315945:P743L;ENSP00000393474:P753L;ENSP00000379871:P743L	ENSP00000315945:P743L	P	-	2	0	CD163L1	7422984	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.428000	0.06991	-1.435000	0.01972	0.455000	0.32223	CCT	CD163L1-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000399330.1		-	ENST00000416109.2	Missense_Mutation	SNP	12 : 7531717 - 7531717 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	563	121
S100A13	6284	broad.mit.edu	37	1	153598820	153598820	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153598820G>A	ENST00000392623.1	-	2	319	c.129C>T	c.(127-129)acC>acT	p.T43T	S100A13_ENST00000440685.2_Silent_p.T43T|S100A13_ENST00000339556.4_Silent_p.T43T|S100A13_ENST00000392622.1_Silent_p.T43T|S100A13_ENST00000491177.1_5'UTR|RP1-178F15.5_ENST00000497086.1_RNA|S100A13_ENST00000368699.1_Silent_p.T43T	NM_001024212.1	NP_001019383.1	Q99584	S10AD_HUMAN	S100 calcium binding protein A13	43	EF-hand 1.				interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|extracellular space|nucleus|perinuclear region of cytoplasm	calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(4)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	GCAACTGCTGGGTAACCAGCT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(156;1296 1989 17590 30930 49554)							NA				0													223	216	218			NA	NA	1		NA											NA				153598820		2203	4300	6503	SO:0001819	synonymous_variant			AK097132	CCDS30874.1	1q21	2008-02-05	2001-11-28		ENSG00000189171	ENSG00000189171	6284	6284		S100 calcium binding proteins	10490	protein-coding gene	gene with protein product		601989	S100 calcium-binding protein A13		NA	8985590	Standard	NM_005979	XM_005245434	NA	Approved		uc001fch.3	Q99584	OTTHUMG00000036641	ENST00000392623.1:c.129C>T	1.37:g.153598820G>A		NA	Q52PI9|Q6FGF8	37	CCDS30874.1																																																																																			S100A13-203	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089109.3		-	ENST00000392623.1	Silent	SNP	1 : 153598820 - 153598820 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1490	255
GDF10	2662	broad.mit.edu	37	10	48428790	48428790	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:48428790G>A	ENST00000224605.2	-	2	1361	c.1096C>T	c.(1096-1098)Cgg>Tgg	p.R366W		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	366					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						TGCTTCCTCCGGGCTTTCTGC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	81	86			NA	NA	10		NA											NA				48428790		2203	4300	6503	SO:0001583	missense			L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524	2662	2662		Endogenous ligands	4215	protein-coding gene	gene with protein product		601361			NA	8679252	Standard	NM_004962	NM_004962	NA	Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.1096C>T	10.37:g.48428790G>A	ENSP00000224605:p.Arg366Trp	NA	Q5VSQ8|Q9UCX6	37	CCDS7220.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.288797	0.59976	.	.	ENSG00000107623	ENST00000374247;ENST00000224605	T	0.79653	-1.29	5.43	1.11	0.20524	Transforming growth factor-beta, C-terminal (1);	0.050803	0.64402	D	0.000001	D	0.86443	0.5934	M	0.78049	2.395	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.83990	0.0337	10	0.87932	D	0	.	6.3463	0.21351	0.144:0.0:0.5155:0.3405	.	176;366	Q8N6T2;P55107	.;BMP3B_HUMAN	W	176;366	ENSP00000224605:R366W	ENSP00000224605:R366W	R	-	1	2	GDF10	48048796	1.000000	0.71417	0.994000	0.49952	0.675000	0.39556	2.333000	0.43912	0.332000	0.23536	0.655000	0.94253	CGG	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047884.1		-	ENST00000224605.2	Missense_Mutation	SNP	10 : 48428790 - 48428790 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	347	10
PRDM11	56981	broad.mit.edu	37	11	45246288	45246288	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45246288T>C	ENST00000424263.2	+	7	1508	c.1263T>C	c.(1261-1263)gtT>gtC	p.V421V	PRDM11_ENST00000263765.4_Silent_p.V455V|PRDM11_ENST00000528980.1_Intron|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000530656.1_Silent_p.V455V	NM_001256695.1|NM_001256696.1	NP_001243624.1|NP_001243625.1	Q9NQV5	PRD11_HUMAN	PR domain containing 11	455										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						AGAAGAAGGTTCGGGAGCTCC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(118;1511 1736 6472 36603 43224)							NA				0													178	189	185			NA	NA	11		NA											NA				45246288		2203	4299	6502	SO:0001819	synonymous_variant			AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485	56981	56981			13996	protein-coding gene	gene with protein product	PR-domain containing protein 11				NA		Standard	NM_020229	NM_001256695	NA	Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000424263.2:c.1263T>C	11.37:g.45246288T>C		NA	Q8N9F1	37	CCDS58130.1																																																																																			PRDM11-002	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389930.1		+	ENST00000424263.2	Silent	SNP	11 : 45246288 - 45246288 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1742	316
EGR1	1958	broad.mit.edu	37	5	137801568	137801568	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137801568C>A	ENST00000239938.4	+	1	390	c.118C>A	c.(118-120)Ctg>Atg	p.L40M		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	40					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GGAGATGATGCTGCTGAGCAA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	69	72			NA	NA	5		NA											NA				137801568		2203	4300	6503	SO:0001583	missense			M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738	1958	1958		Zinc fingers, C2H2-type	3238	protein-coding gene	gene with protein product	nerve growth factor-induced protein A, transcription factor ETR103, zinc finger protein 225, early growth response protein 1	128990			NA	3127059	Standard	NM_001964	NM_001964	NA	Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.118C>A	5.37:g.137801568C>A	ENSP00000239938:p.Leu40Met	NA		37	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	c	14.98	2.697751	0.48307	.	.	ENSG00000120738	ENST00000535792;ENST00000411801;ENST00000239938	T	0.14391	2.51	5.0	4.12	0.48240	.	0.123911	0.53938	N	0.000047	T	0.09686	0.0238	L	0.28344	0.845	0.41657	D	0.989166	P;B	0.34864	0.473;0.001	B;B	0.32393	0.145;0.005	T	0.19353	-1.0308	10	0.14656	T	0.56	-6.652	14.8172	0.70045	0.1452:0.8548:0.0:0.0	.	40;40	B4DNX4;P18146	.;EGR1_HUMAN	M	40	ENSP00000239938:L40M	ENSP00000239938:L40M	L	+	1	2	EGR1	137829467	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.331000	0.59273	1.304000	0.44892	0.486000	0.48141	CTG	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251274.1		+	ENST00000239938.4	Missense_Mutation	SNP	5 : 137801568 - 137801568 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	620	129
GPATCH2L	55668	broad.mit.edu	37	14	76644343	76644343	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76644343G>A	ENST00000261530.7	+	7	1131	c.1065G>A	c.(1063-1065)gcG>gcA	p.A355A	GPATCH2L_ENST00000312858.5_Intron	NM_017926.2	NP_060396.2			G patch domain containing 2-like	NA											NA						AGAATAAAGCGTTGGCTTCTG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	182	180			NA	NA	14		NA											NA				76644343		2203	4300	6503	SO:0001819	synonymous_variant			AK000696	CCDS9848.1, CCDS9849.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000089916	ENSG00000089916	55668	55668			20210	protein-coding gene	gene with protein product			chromosome 14 open reading frame 118	C14orf118	NA	10574461	Standard	NM_017926	NM_017926	NA	Approved	FLJ20689, FLJ10033	uc001xsh.3	Q9NWQ4	OTTHUMG00000171490	ENST00000261530.7:c.1065G>A	14.37:g.76644343G>A		NA		37	CCDS9848.1																																																																																			GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413698.2		+	ENST00000261530.7	Silent	SNP	14 : 76644343 - 76644343 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	335	43
ST3GAL1	6482	broad.mit.edu	37	8	134478233	134478233	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:134478233G>A	ENST00000319914.5	-	5	1434	c.407C>T	c.(406-408)tCg>tTg	p.S136L	ST3GAL1_ENST00000522652.1_Missense_Mutation_p.S136L|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.S136L|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.S136L			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	136					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GCAGCCCACCGACCTCTTCTC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	79	79			NA	NA	8		NA											NA				134478233		2203	4300	6503	SO:0001583	missense			L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	6482	6482	2.4.99.4	Sialyltransferases	10862	protein-coding gene	gene with protein product	ST3Gal I	607187	sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)	SIAT4A	NA	10504389, 7655169	Standard	NM_003033	NM_003033	NA	Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.407C>T	8.37:g.134478233G>A	ENSP00000318445:p.Ser136Leu	NA	O60677|Q9UN51	37	CCDS6373.1	.	.	.	.	.	.	.	.	.	.	G	6.970	0.549021	0.13312	.	.	ENSG00000008513	ENST00000319914;ENST00000399640;ENST00000521180;ENST00000522652;ENST00000523854;ENST00000517668	T;T;T;T;T;T	0.30714	2.16;2.16;2.16;2.16;1.52;1.52	4.7	1.27	0.21489	.	0.299822	0.36409	N	0.002613	T	0.12774	0.0310	N	0.04275	-0.24	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21211	-1.0252	10	0.34782	T	0.22	-17.8018	8.7121	0.34389	0.2966:0.0:0.7034:0.0	.	136	Q11201	SIA4A_HUMAN	L	136;136;136;136;6;6	ENSP00000318445:S136L;ENSP00000414073:S136L;ENSP00000428540:S136L;ENSP00000430515:S136L;ENSP00000429638:S6L;ENSP00000427720:S6L	ENSP00000318445:S136L	S	-	2	0	ST3GAL1	134547415	0.001000	0.12720	0.022000	0.16811	0.379000	0.30106	0.974000	0.29436	0.010000	0.14839	-0.254000	0.11334	TCG	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379132.1		-	ENST00000319914.5	Missense_Mutation	SNP	8 : 134478233 - 134478233 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	449	83
ADH1B	125	broad.mit.edu	37	4	100232703	100232703	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100232703G>A	ENST00000305046.8	-	7	1006	c.939C>T	c.(937-939)cgC>cgT	p.R313R	ADH1B_ENST00000394887.3_Silent_p.R273R			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	313					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CCTTCCAGGTGCGTCCAGTCA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													173	170	171			NA	NA	4		NA											NA				100232703		2203	4300	6503	SO:0001819	synonymous_variant			AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	125	125	1.1.1.1	Alcohol dehydrogenases	250	protein-coding gene	gene with protein product		103720		ADH2	NA	3006456	Standard	NM_000668	NM_000668	NA	Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.939C>T	4.37:g.100232703G>A		NA	Q13711|Q4ZGI9|Q96KI7	37	CCDS34033.1																																																																																			ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364853.1		-	ENST00000305046.8	Silent	SNP	4 : 100232703 - 100232703 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1012	194
TXNRD1	7296	broad.mit.edu	37	12	104697806	104697806	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104697806G>A	ENST00000529546.1	+	3	198				TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000542918.1_Intron|EID3_ENST00000527879.1_Missense_Mutation_p.A32T|TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000503506.2_Intron			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	NA					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						GGAGCTCACCGCTGACGAGGA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(139;555 1836 9186 9946 10884)							NA				0													28	32	31			NA	NA	12		NA											NA				104697806		2120	4222	6342	SO:0001627	intron_variant				CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01					7296	7296			12437	protein-coding gene	gene with protein product		601112			NA	7589432	Standard	NM_003330	NM_001093771	NA	Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.-27-9217G>A	12.37:g.104697806G>A		NA	Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	37	CCDS58274.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.376748	0.24857	.	.	ENSG00000255150	ENST00000527879	T	0.44083	0.93	3.8	1.95	0.26073	.	.	.	.	.	T	0.16514	0.0397	N	0.08118	0	0.09310	N	1	B	0.31859	0.343	B	0.13407	0.009	T	0.17319	-1.0373	9	0.14656	T	0.56	.	6.2809	0.21007	0.2155:0.0:0.7845:0.0	.	32	Q8N140	EID3_HUMAN	T	32	ENSP00000435619:A32T	ENSP00000435619:A32T	A	+	1	0	EID3	103221936	0.048000	0.20356	0.000000	0.03702	0.008000	0.06430	3.731000	0.55013	0.409000	0.25649	0.555000	0.69702	GCT	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	NA	protein_coding	OTTHUMT00000389969.1		+	ENST00000529546.1	Intron	SNP	12 : 104697806 - 104697806 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	137	38
BOP1	23246	broad.mit.edu	37	8	145512876	145512876	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145512876C>T	ENST00000307404.5	-	2	238	c.209G>A	c.(208-210)aGc>aAc	p.S70N	BOP1_ENST00000529231.1_5'UTR	NM_015201.3	NP_056016.1	Q14137	BOP1_HUMAN	block of proliferation 1	70					cell proliferation|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	nucleoplasm|PeBoW complex	protein binding			lung(1)|urinary_tract(2)	3	all_cancers(97;4.06e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;2.61e-39)|all cancers(56;1.37e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.087)			ATCCTCACTGCTGTCACTGCC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	117	123			NA	NA	8		NA											NA				145512876		2203	4300	6503	SO:0001583	missense			AK024840	CCDS6418.1, CCDS6418.2	8q24.3	2014-05-06			ENSG00000170727	ENSG00000261236	23246	23246		WD repeat domain containing	15519	protein-coding gene	gene with protein product		610596			NA	8590280	Standard	NM_015201	NM_015201	NA	Approved	KIAA0124	uc003zbm.3	Q14137	OTTHUMG00000174603	ENST00000307404.5:c.209G>A	8.37:g.145512876C>T	ENSP00000304151:p.Ser70Asn	NA	Q969Z6|Q96IS8|Q9BSA7|Q9BVM0	37	CCDS6418.1	.	.	.	.	.	.	.	.	.	.	c	14.32	2.500081	0.44455	.	.	ENSG00000170727	ENST00000307404	T	0.38887	1.11	4.85	3.0	0.34707	.	1.415430	0.04521	U	0.384663	T	0.27765	0.0683	N	0.14661	0.345	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.05566	-1.0877	10	0.17832	T	0.49	-0.1411	8.4871	0.33078	0.0:0.7508:0.1601:0.0891	.	70	Q14137	BOP1_HUMAN	N	70	ENSP00000304151:S70N	ENSP00000304151:S70N	S	-	2	0	BOP1	145483684	0.349000	0.24870	0.212000	0.23672	0.959000	0.62525	0.448000	0.21726	0.537000	0.28751	0.655000	0.94253	AGC	BOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381902.2		-	ENST00000307404.5	Missense_Mutation	SNP	8 : 145512876 - 145512876 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	500	74
PARPBP	55010	broad.mit.edu	37	12	102558319	102558319	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102558319G>A	ENST00000541394.1	+	6	935	c.830G>A	c.(829-831)gGa>gAa	p.G277E	PARPBP_ENST00000543784.1_Missense_Mutation_p.G86E|PARPBP_ENST00000327680.2_Missense_Mutation_p.G119E|PARPBP_ENST00000392911.2_Missense_Mutation_p.G119E|PARPBP_ENST00000378128.3_Missense_Mutation_p.G200E|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000358383.5_Missense_Mutation_p.G200E			Q9NWS1	PR1BP_HUMAN	PARP1 binding protein	200					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding			endometrium(1)|lung(8)|urinary_tract(2)	11						CCTGATAGAGGACTAGGAAGA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	151	147			NA	NA	12		NA											NA				102558319		2203	4300	6503	SO:0001583	missense			AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480	55010	55010			26074	protein-coding gene	gene with protein product	PARP-1 binding protein	613687	chromosome 12 open reading frame 48	C12orf48	NA	20931645	Standard	NM_017915	NM_017915	NA	Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000541394.1:c.830G>A	12.37:g.102558319G>A	ENSP00000440850:p.Gly277Glu	NA	B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	37		.	.	.	.	.	.	.	.	.	.	G	17.25	3.342216	0.61073	.	.	ENSG00000185480	ENST00000378128;ENST00000327680;ENST00000541394;ENST00000543784;ENST00000358383;ENST00000392911;ENST00000417507;ENST00000412715	T;T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03	5.69	5.69	0.88448	.	0.338331	0.35151	N	0.003410	T	0.66218	0.2767	M	0.72894	2.215	0.45452	D	0.998423	B;D;D;P;D;D	0.89917	0.424;1.0;1.0;0.64;1.0;1.0	B;D;D;B;D;D	0.87578	0.111;0.998;0.992;0.221;0.995;0.992	T	0.64659	-0.6355	10	0.48119	T	0.1	-16.5134	19.8169	0.96573	0.0:0.0:1.0:0.0	.	86;277;200;200;200;119	B4DT40;B4DZ31;Q9NWS1-6;Q9NWS1-7;Q9NWS1;Q9NWS1-2	.;.;.;.;PR1BP_HUMAN;.	E	200;119;277;86;200;119;167;167	ENSP00000367368:G200E;ENSP00000332915:G119E;ENSP00000440850:G277E;ENSP00000444576:G86E;ENSP00000351153:G200E;ENSP00000376643:G119E;ENSP00000411313:G167E;ENSP00000393867:G167E	ENSP00000332915:G119E	G	+	2	0	C12orf48	101082449	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.112000	0.50368	2.689000	0.91719	0.460000	0.39030	GGA	PARPBP-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000397026.1		+	ENST00000541394.1	Missense_Mutation	SNP	12 : 102558319 - 102558319 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	738	194
CCT2	10576	broad.mit.edu	37	12	69991040	69991040	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69991040T>G	ENST00000543146.2	+	11	1428	c.946T>G	c.(946-948)Tct>Gct	p.S316A	CCT2_ENST00000299300.6_Missense_Mutation_p.S363A|CCT2_ENST00000544368.2_Missense_Mutation_p.S363A	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	363					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CATTCACTTTTCTGGGGTTGC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													250	226	234			NA	NA	12		NA											NA				69991040		2203	4300	6503	SO:0001583	missense			AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02					10576	10576		Heat Shock Proteins / Chaperonins	1615	protein-coding gene	gene with protein product		605139			NA	9819444	Standard	NM_006431	NM_001198842	NA	Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000543146.2:c.946T>G	12.37:g.69991040T>G	ENSP00000445471:p.Ser316Ala	NA	Q14D36|Q6IAT3	37	CCDS55843.1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.964249	0.92791	.	.	ENSG00000166226	ENST00000299300;ENST00000544368;ENST00000543146	T;T;T	0.67865	-0.29;-0.29;-0.29	6.16	6.16	0.99307	.	0.154543	0.64402	D	0.000012	D	0.85062	0.5611	M	0.93898	3.47	0.58432	D	0.999999	P;P	0.43094	0.799;0.69	P;P	0.57776	0.827;0.786	D	0.87706	0.2563	9	.	.	.	-28.6863	15.3771	0.74615	0.0:0.0:0.0:1.0	.	363;363	F5GWF6;P78371	.;TCPB_HUMAN	A	363;363;316	ENSP00000299300:S363A;ENSP00000441847:S363A;ENSP00000445471:S316A	.	S	+	1	0	CCT2	68277307	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.692000	0.84203	2.367000	0.80283	0.528000	0.53228	TCT	CCT2-005	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403828.1		+	ENST00000543146.2	Missense_Mutation	SNP	12 : 69991040 - 69991040 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	759	158
PROM2	150696	broad.mit.edu	37	2	95941711	95941711	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95941711G>A	ENST00000317620.9	+	3	461	c.328G>A	c.(328-330)Gct>Act	p.A110T	PROM2_ENST00000463580.1_Intron|PROM2_ENST00000317668.4_Missense_Mutation_p.A110T|PROM2_ENST00000403131.2_Missense_Mutation_p.A110T|PROM2_ENST00000542147.1_Missense_Mutation_p.A110T	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	110						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CGTGGTATGCGCTGTGATCGC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	34	30			NA	NA	2		NA											NA				95941711		2202	4298	6500	SO:0001583	missense			AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066	150696	150696			20685	protein-coding gene	gene with protein product					NA	12514187	Standard	NM_144707	NM_001165978	NA	Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.328G>A	2.37:g.95941711G>A	ENSP00000318270:p.Ala110Thr	NA	A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	37	CCDS2012.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633838	0.47049	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	4.77	3.82	0.43975	.	0.000000	0.64402	D	0.000013	T	0.64091	0.2567	M	0.77616	2.38	0.09310	N	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.53906	-0.8372	10	0.25106	T	0.35	-9.3479	10.0963	0.42478	0.0:0.2043:0.7957:0.0	.	110	Q8N271	PROM2_HUMAN	T	110	ENSP00000385716:A110T;ENSP00000318520:A110T;ENSP00000318270:A110T;ENSP00000442542:A110T	ENSP00000318270:A110T	A	+	1	0	PROM2	95305438	0.154000	0.22792	0.447000	0.26932	0.008000	0.06430	2.125000	0.42016	2.176000	0.68965	0.462000	0.41574	GCT	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252771.1		+	ENST00000317620.9	Missense_Mutation	SNP	2 : 95941711 - 95941711 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	173	42
ZZZ3	26009	broad.mit.edu	37	1	78097537	78097537	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78097537T>G	ENST00000370801.3	-	5	1978	c.1503A>C	c.(1501-1503)aaA>aaC	p.K501N	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						ACACATACTCTTTGTTGTGTT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	87	88			NA	NA	1		NA											NA				78097537		2203	4300	6503	SO:0001583	missense			AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549	26009	26009		Zinc fingers, ZZ-type	24523	protein-coding gene	gene with protein product	ATAC component 1 homolog (Drosophila)				NA	16428443, 21304275	Standard	NM_015534	NM_015534	NA	Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.1503A>C	1.37:g.78097537T>G	ENSP00000359837:p.Lys501Asn	NA	B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	37	CCDS677.1	.	.	.	.	.	.	.	.	.	.	T	14.00	2.404934	0.42613	.	.	ENSG00000036549	ENST00000370801	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.70098	0.3185	L	0.57536	1.79	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;P;D	0.74023	0.982;0.82;0.913	T	0.72868	-0.4162	9	0.56958	D	0.05	.	15.755	0.78015	0.0:0.0:0.0:1.0	.	501;501;501	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	N	501	.	ENSP00000359837:K501N	K	-	3	2	ZZZ3	77870125	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.590000	0.82653	2.266000	0.75297	0.533000	0.62120	AAA	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026615.1		-	ENST00000370801.3	Missense_Mutation	SNP	1 : 78097537 - 78097537 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	303	65
GPSM1	26086	broad.mit.edu	37	9	139243186	139243186	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139243186G>A	ENST00000440944.1	+	10	1465	c.1245G>A	c.(1243-1245)gaG>gaA	p.E415E		NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	415	Interaction with STK11/LKB1 (By similarity).|Mediates association with membranes (By similarity).				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		TGAGCGCGGAGACCTGGGACC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	48	48			NA	NA	9		NA											NA				139243186		2198	4299	6497	SO:0001819	synonymous_variant			AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360	26086	26086		Tetratricopeptide (TTC) repeat domain containing	17858	protein-coding gene	gene with protein product	AGS3 homolog (C. elegans)	609491	G-protein signalling modulator 1 (AGS3-like, C. elegans)		NA	11278352, 10969064	Standard	NM_015597	NM_001145639	NA	Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.1245G>A	9.37:g.139243186G>A		NA	A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	37	CCDS48055.1																																																																																			GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding			+	ENST00000440944.1	Silent	SNP	9 : 139243186 - 139243186 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	158	31
AGPAT3	56894	broad.mit.edu	37	21	45402199	45402199	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45402199C>T	ENST00000398063.2	+	9	1549	c.1057C>T	c.(1057-1059)Cgc>Tgc	p.R353C	AGPAT3_ENST00000546158.1_Missense_Mutation_p.R353C|AGPAT3_ENST00000291572.8_Missense_Mutation_p.R353C|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Missense_Mutation_p.R353C|AGPAT3_ENST00000327505.2_Missense_Mutation_p.R353C|AGPAT3_ENST00000398061.1_Missense_Mutation_p.R353C	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	353					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	p.R353C(1)		large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		CTTTGGAGTTCGCAGACTGAT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(60;623 1650 5574 52796)							NA				1	Substitution - Missense(1)	large_intestine(1)											146	159	155			NA	NA	21		NA											NA				45402199		2203	4300	6503	SO:0001583	missense			AF156774	CCDS13703.1	21q22.3	2013-02-05			ENSG00000160216	ENSG00000160216	56894	56894	2.3.1.51	1-acylglycerol-3-phosphate O-acyltransferases	326	protein-coding gene	gene with protein product		614794			NA		Standard	NM_020132	XM_005261159	NA	Approved	LPAAT-gamma	uc002zdw.3	Q9NRZ7	OTTHUMG00000086892	ENST00000398063.2:c.1057C>T	21.37:g.45402199C>T	ENSP00000381140:p.Arg353Cys	NA	D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	37	CCDS13703.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978796	0.92982	.	.	ENSG00000160216	ENST00000291572;ENST00000398061;ENST00000327505;ENST00000398063;ENST00000398058;ENST00000546158	T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.88097	0.6345	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.77557	0.99;0.856	D	0.89582	0.3821	10	0.66056	D	0.02	-20.5082	17.7067	0.88310	0.0:1.0:0.0:0.0	.	373;353	Q9NRZ7-3;Q9NRZ7	.;PLCC_HUMAN	C	353	ENSP00000291572:R353C;ENSP00000381138:R353C;ENSP00000332989:R353C;ENSP00000381140:R353C;ENSP00000381135:R353C;ENSP00000443510:R353C	ENSP00000291572:R353C	R	+	1	0	AGPAT3	44226627	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.046000	0.64226	2.409000	0.81822	0.563000	0.77884	CGC	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195722.1		+	ENST00000398063.2	Missense_Mutation	SNP	21 : 45402199 - 45402199 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	941	113
GNAS	2778	broad.mit.edu	37	20	57415518	57415518	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57415518C>T	ENST00000313949.7	+	1	746	c.357C>T	c.(355-357)atC>atT	p.I119I	GNAS_ENST00000371075.3_Silent_p.I119I|GNAS_ENST00000371098.2_Silent_p.I119I|GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000424094.2_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	134					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGTCCGAAATCGAGTCCGAGA	0.637		NA	Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism, type IA			TSP Lung(22;0.16)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(117;935 1597 6045 8307 46442)		Dom	yes		20	20q13.2	2778	guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1	yes	E	0													102	95	97			NA	NA	20		NA											NA				57415518		2203	4300	6503	SO:0001819	synonymous_variant			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460	2778	2778			4392	protein-coding gene	gene with protein product	secretogranin VI	139320	guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1	GNAS1	NA		Standard	NM_000516	NM_000516	NA	Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000313949.7:c.357C>T	20.37:g.57415518C>T		NA	E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	37	CCDS13471.1																																																																																			GNAS-002	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080418.7		+	ENST00000313949.7	Silent	SNP	20 : 57415518 - 57415518 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	646	109
FBP2	8789	broad.mit.edu	37	9	97321313	97321313	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:97321313C>A	ENST00000375337.3	-	7	993	c.927G>T	c.(925-927)gaG>gaT	p.E309D	PCAT7_ENST00000452148.2_RNA	NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	309					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				GGTGAATTGCCTCGGGCTTCA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	92	97			NA	NA	9		NA											NA				97321313		2203	4300	6503	SO:0001583	missense			Y10812	CCDS6711.1	9q22.3	2012-08-13			ENSG00000130957	ENSG00000130957	8789	8789	3.1.3.11		3607	protein-coding gene	gene with protein product		603027			NA	9678974	Standard	NM_003837	NM_003837	NA	Approved		uc004auv.3	O00757	OTTHUMG00000020269	ENST00000375337.3:c.927G>T	9.37:g.97321313C>A	ENSP00000364486:p.Glu309Asp	NA	Q17R39|Q6FI53	37	CCDS6711.1	.	.	.	.	.	.	.	.	.	.	.	11.72	1.722736	0.30503	.	.	ENSG00000130957	ENST00000375337	T	0.72051	-0.62	5.54	1.44	0.22558	.	0.000000	0.85682	D	0.000000	T	0.60117	0.2244	L	0.46947	1.48	0.42638	D	0.993408	B	0.02656	0.0	B	0.06405	0.002	T	0.55198	-0.8178	10	0.38643	T	0.18	0.0724	10.6656	0.45728	0.0:0.651:0.0:0.349	.	309	O00757	F16P2_HUMAN	D	309	ENSP00000364486:E309D	ENSP00000364486:E309D	E	-	3	2	FBP2	96361134	0.005000	0.15991	0.147000	0.22382	0.744000	0.42396	0.135000	0.15952	0.457000	0.26962	0.655000	0.94253	GAG	FBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053189.1		-	ENST00000375337.3	Missense_Mutation	SNP	9 : 97321313 - 97321313 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	459	79
CDSN	1041	broad.mit.edu	37	6	31084129	31084129	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31084129G>A	ENST00000376288.2	-	2	1289	c.1263C>T	c.(1261-1263)agC>agT	p.S421S	PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	NM_001264.4	NP_001255	Q15517	CDSN_HUMAN	corneodesmosin	421	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						GGGAGCAGGGGCTCTGGGAAG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	41	40			NA	NA	6		NA											NA				31084129		2203	4300	6503	SO:0001819	synonymous_variant			AF030130	CCDS34389.1	6p21.3	2008-07-29			ENSG00000204539	ENSG00000204539	1041	1041			1802	protein-coding gene	gene with protein product		602593			NA	9395522, 8415725	Standard		NM_001264	NA	Approved	D6S586E	uc003nsm.2	Q15517	OTTHUMG00000031150	ENST00000376288.2:c.1263C>T	6.37:g.31084129G>A		NA	B0S7V2|B0UYZ7|O43509|Q5SQ85|Q5STD2|Q7LA70|Q7LA71|Q86Z04|Q8IZU4|Q8IZU5|Q8IZU6|Q8N5P3|Q95IF9|Q9NP52|Q9NPE0|Q9NPG5|Q9NRH4|Q9NRH5|Q9NRH6|Q9NRH7|Q9NRH8|Q9UBH8|Q9UIN6|Q9UIN7|Q9UIN8|Q9UIN9|Q9UIP0	37	CCDS34389.1																																																																																			CDSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076275.2		-	ENST00000376288.2	Silent	SNP	6 : 31084129 - 31084129 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	145	29
WDR70	55100	broad.mit.edu	37	5	37723012	37723012	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37723012C>T	ENST00000265107.4	+	15	1729	c.1573C>T	c.(1573-1575)Cta>Tta	p.L525L		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	525										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCTGAGACTCTAACTCAGGA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	145	149			NA	NA	5		NA											NA				37723012		2203	4300	6503	SO:0001819	synonymous_variant			BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068	55100	55100		WD repeat domain containing	25495	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_018034	NM_018034	NA	Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1573C>T	5.37:g.37723012C>T		NA	Q9H053	37	CCDS34147.1																																																																																			WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368294.1		+	ENST00000265107.4	Silent	SNP	5 : 37723012 - 37723012 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	400	71
GABRA5	2558	broad.mit.edu	37	15	27185111	27185111	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27185111G>T	ENST00000335625.5	+	9	1652	c.764G>T	c.(763-765)aGg>aTg	p.R255M	GABRA5_ENST00000355395.5_Missense_Mutation_p.R255M|GABRA5_ENST00000400081.3_Missense_Mutation_p.R255M	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	255					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CACCTGAAAAGGAAGATTGGC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	139	139			NA	NA	15		NA											NA				27185111		2023	4185	6208	SO:0001583	missense				CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297	2558	2558		GABA receptors, Ligand-gated ion channels / GABA(A) receptors	4079	protein-coding gene	gene with protein product	GABA(A) receptor, alpha 5	137142			NA	1321750	Standard		NM_000810	NA	Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.764G>T	15.37:g.27185111G>T	ENSP00000335592:p.Arg255Met	NA	A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	37	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744855	0.89663	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000400081	D;D;D	0.96830	-4.14;-4.14;-4.14	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.98953	0.9644	H	0.97983	4.12	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99449	1.0940	10	0.87932	D	0	.	17.9859	0.89156	0.0:0.0:1.0:0.0	.	255	P31644	GBRA5_HUMAN	M	255	ENSP00000335592:R255M;ENSP00000347557:R255M;ENSP00000382953:R255M	ENSP00000335592:R255M	R	+	2	0	GABRA5	24767857	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.592000	0.98245	2.491000	0.84063	0.561000	0.74099	AGG	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415234.1		+	ENST00000335625.5	Missense_Mutation	SNP	15 : 27185111 - 27185111 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	199	50
ANKRD17	26057	broad.mit.edu	37	4	74124188	74124188	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74124188C>T	ENST00000358602.4	-	1	314	c.198G>A	c.(196-198)ccG>ccA	p.P66P	ANKRD17_ENST00000330838.6_Silent_p.P66P	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	66					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCTGCTGCGGCGGCTTCTTCT	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	18	18			NA	NA	4		NA											NA				74124188		2200	4278	6478	SO:0001819	synonymous_variant			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466	26057	26057		Ankyrin repeat domain containing	23575	protein-coding gene	gene with protein product		615929			NA	11165478	Standard	NM_032217	NM_032217	NA	Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.198G>A	4.37:g.74124188C>T		NA	Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	37	CCDS34004.1																																																																																			ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362475.1		-	ENST00000358602.4	Silent	SNP	4 : 74124188 - 74124188 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	111	21
SNX33	257364	broad.mit.edu	37	15	75942569	75942569	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75942569G>A	ENST00000308527.5	+	1	2323	c.1126G>A	c.(1126-1128)Gat>Aat	p.D376N		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	376	BAR.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						GGACGTGGAAGATCGCGTGGA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	67	69			NA	NA	15		NA											NA				75942569		2197	4294	6491	SO:0001583	missense			AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548	257364	257364			28468	protein-coding gene	gene with protein product			SH3 and PX domain containing 3	SH3PX3	NA	16374509, 16782399, 18353773	Standard	NM_153271	NM_153271	NA	Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.1126G>A	15.37:g.75942569G>A	ENSP00000311427:p.Asp376Asn	NA		37	CCDS10283.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766693	0.49574	.	.	ENSG00000173548	ENST00000308527	T	0.42131	0.98	5.48	5.48	0.80851	Sorting nexin protein, WASP-binding domain (1);	0.052515	0.85682	D	0.000000	T	0.32912	0.0845	N	0.14661	0.345	0.58432	D	0.999998	B;B	0.24043	0.096;0.096	B;B	0.30401	0.115;0.115	T	0.10847	-1.0612	10	0.40728	T	0.16	-20.2346	18.3366	0.90290	0.0:0.0:1.0:0.0	.	376;376	B1NM17;Q8WV41	.;SNX33_HUMAN	N	376	ENSP00000311427:D376N	ENSP00000311427:D376N	D	+	1	0	SNX33	73729624	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.867000	0.99620	2.586000	0.87340	0.561000	0.74099	GAT	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286471.1		+	ENST00000308527.5	Missense_Mutation	SNP	15 : 75942569 - 75942569 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	353	9
TENM3	55714	broad.mit.edu	37	4	183721257	183721257	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:183721257C>T	ENST00000511685.1	+	28	7976	c.7853C>T	c.(7852-7854)gCg>gTg	p.A2618V	TENM3_ENST00000406950.2_Missense_Mutation_p.A2618V					teneurin transmembrane protein 3	NA											NA						GAGGAGAAGGCGCGCATCCTG	0.751		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													10	12	12			NA	NA	4		NA											NA				183721257		2109	4220	6329	SO:0001583	missense			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336	55714	55714			29944	protein-coding gene	gene with protein product		610083	odz, odd Oz/ten-m homolog 3 (Drosophila)	ODZ3	NA	10331952, 10625539	Standard		NM_001080477	NA	Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.7853C>T	4.37:g.183721257C>T	ENSP00000424226:p.Ala2618Val	NA		37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.805680	0.31961	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86562	-2.14;-2.14	4.16	4.16	0.48862	.	.	.	.	.	T	0.76564	0.4005	N	0.11651	0.15	0.58432	D	0.99999	B	0.11235	0.004	B	0.10450	0.005	T	0.70550	-0.4841	9	0.25751	T	0.34	.	16.9951	0.86365	0.0:1.0:0.0:0.0	.	2618	Q9P273	TEN3_HUMAN	V	2618	ENSP00000424226:A2618V;ENSP00000385276:A2618V	ENSP00000385276:A2618V	A	+	2	0	ODZ3	183958251	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.738000	0.62073	2.312000	0.78011	0.455000	0.32223	GCG	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361734.1		+	ENST00000511685.1	Missense_Mutation	SNP	4 : 183721257 - 183721257 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	84	21
XAB2	56949	broad.mit.edu	37	19	7693095	7693095	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7693095G>A	ENST00000358368.4	-	2	178	c.141C>T	c.(139-141)ggC>ggT	p.G47G	XAB2_ENST00000534844.1_Silent_p.G44G	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	47					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						GCTTCGGGGCGCCCTGTTTGA	0.612		NA						Direct reversal of damage;Nucleotide excision repair (NER)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	74	77			NA	NA	19		NA											NA				7693095		2202	4300	6502	SO:0001819	synonymous_variant			AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924	56949	56949			14089	protein-coding gene	gene with protein product	SYF1 homolog, RNA splicing factor (S. cerevisiae), SYF1 pre-mRNA-splicing factor	610850			NA	10944529	Standard	NM_020196	NM_020196	NA	Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.141C>T	19.37:g.7693095G>A		NA	Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	37	CCDS32892.1																																																																																			XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461021.1		-	ENST00000358368.4	Silent	SNP	19 : 7693095 - 7693095 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	282	57
SBNO2	22904	broad.mit.edu	37	19	1112468	1112468	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1112468G>A	ENST00000587024.1	-	21	2628	c.2418C>T	c.(2416-2418)aaC>aaT	p.N806N	SBNO2_ENST00000438103.2_Silent_p.N759N|SBNO2_ENST00000361757.3_Silent_p.N816N			Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	816					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGCCGCTGGTTCTGGACAC	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	20	17			NA	NA	19		NA											NA				1112468		2026	4147	6173	SO:0001819	synonymous_variant			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932	22904	22904			29158	protein-coding gene	gene with protein product		615729	KIAA0963	KIAA0963	NA	10231032	Standard	NM_014963	NM_014963	NA	Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000587024.1:c.2418C>T	19.37:g.1112468G>A		NA	A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	37																																																																																				SBNO2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000458060.1		-	ENST00000587024.1	Silent	SNP	19 : 1112468 - 1112468 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	111	21
SERPIND1	3053	broad.mit.edu	37	22	21141285	21141285	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21141285C>T	ENST00000215727.5	+	5	1714	c.1431C>T	c.(1429-1431)ttC>ttT	p.F477F	PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Silent_p.F477F|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	477					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	CCTTTCTTTTCCTCATCTACG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	90	99			NA	NA	22		NA											NA				21141285		2203	4300	6503	SO:0001819	synonymous_variant			M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937	3053	3053		Serine (or cysteine) peptidase inhibitors	4838	protein-coding gene	gene with protein product	heparin cofactor II	142360	serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1	HCF2	NA	1671335, 24172014	Standard	NM_000185	XM_005261597	NA	Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.1431C>T	22.37:g.21141285C>T		NA	B2RAI1|D3DX34|Q6IBZ5	37	CCDS13783.1																																																																																			SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319961.1		+	ENST00000215727.5	Silent	SNP	22 : 21141285 - 21141285 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	512	91
HSPG2	3339	broad.mit.edu	37	1	22162127	22162127	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22162127G>T	ENST00000374695.3	-	76	10438	c.10359C>A	c.(10357-10359)atC>atA	p.I3453I		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3453	Ig-like C2-type 20.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCAAGTTCTGGATTCTATAAA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	35	35			NA	NA	1		NA											NA				22162127		2203	4300	6503	SO:0001819	synonymous_variant			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798	3339	3339		Proteoglycans / Extracellular Matrix : Other, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	5273	protein-coding gene	gene with protein product	perlecan proteoglycan	142461	Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)	SJS1	NA	1685141, 11941538	Standard	NM_005529	XM_005245863	NA	Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.10359C>A	1.37:g.22162127G>T		NA	Q16287|Q5SZI3|Q9H3V5	37	CCDS30625.1																																																																																			HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007598.1		-	ENST00000374695.3	Silent	SNP	1 : 22162127 - 22162127 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	164	12
FGFRL1	53834	broad.mit.edu	37	4	1018897	1018897	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1018897G>A	ENST00000398484.2	+	8	1857	c.1277G>A	c.(1276-1278)cGc>cAc	p.R426H	FGFRL1_ENST00000504138.1_Missense_Mutation_p.R426H|FGFRL1_ENST00000510644.1_Missense_Mutation_p.R426H|FGFRL1_ENST00000264748.6_Missense_Mutation_p.R426H			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	426					regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCCCGCGACCGCAGCGGAGAC	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	13	13			NA	NA	4		NA											NA				1018897		2183	4264	6447	SO:0001583	missense				CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418	53834	53834		Immunoglobulin superfamily / I-set domain containing	3693	protein-coding gene	gene with protein product		605830			NA		Standard	NM_021923	NM_021923	NA	Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1277G>A	4.37:g.1018897G>A	ENSP00000381498:p.Arg426His	NA	B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	37	CCDS3344.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.967696	0.34754	.	.	ENSG00000127418	ENST00000398484;ENST00000542622;ENST00000510644;ENST00000504138;ENST00000264748	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	4.26	4.26	0.50523	.	0.124081	0.53938	D	0.000042	T	0.56381	0.1981	L	0.33485	1.01	0.58432	D	0.999996	B	0.33694	0.421	B	0.28553	0.091	T	0.55095	-0.8194	10	0.13853	T	0.58	-20.067	15.7273	0.77770	0.0:0.0:1.0:0.0	.	426	Q8N441	FGRL1_HUMAN	H	426;396;426;426;426	ENSP00000381498:R426H;ENSP00000425025:R426H;ENSP00000423091:R426H;ENSP00000264748:R426H	ENSP00000264748:R426H	R	+	2	0	FGFRL1	1008897	0.214000	0.23563	0.659000	0.29680	0.023000	0.10783	1.039000	0.30266	1.943000	0.56356	0.456000	0.33151	CGC	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239195.2		+	ENST00000398484.2	Missense_Mutation	SNP	4 : 1018897 - 1018897 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	158	24
PGLYRP3	114771	broad.mit.edu	37	1	153279722	153279722	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153279722C>T	ENST00000290722.1	-	2	129	c.77G>A	c.(76-78)cGc>cAc	p.R26H		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	26					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCACTCCTTGCGGGAGACGAT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	35	35			NA	NA	1		NA											NA				153279722		2203	4300	6503	SO:0001583	missense			AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527	114771	114771			30014	protein-coding gene	gene with protein product	peptidoglycan recognition protein I alpha precursor	608197			NA	11461926	Standard	NM_052891	NM_052891	NA	Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.77G>A	1.37:g.153279722C>T	ENSP00000290722:p.Arg26His	NA	A1A4U8|Q5SY65	37	CCDS1035.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639998	0.47153	.	.	ENSG00000159527	ENST00000290722	T	0.57436	0.4	4.21	3.27	0.37495	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (2);	0.172267	0.25906	N	0.027534	T	0.27205	0.0667	L	0.60455	1.87	0.24925	N	0.991952	P	0.47191	0.891	B	0.36289	0.221	T	0.09079	-1.0691	10	0.87932	D	0	-13.0525	10.0377	0.42139	0.0:0.7946:0.2054:0.0	.	26	Q96LB9	PGRP3_HUMAN	H	26	ENSP00000290722:R26H	ENSP00000290722:R26H	R	-	2	0	PGLYRP3	151546346	0.310000	0.24527	0.967000	0.41034	0.072000	0.16883	1.119000	0.31258	1.086000	0.41228	0.655000	0.94253	CGC	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039488.1		-	ENST00000290722.1	Missense_Mutation	SNP	1 : 153279722 - 153279722 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	104	8
NUP188	23511	broad.mit.edu	37	9	131755939	131755939	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131755939C>T	ENST00000372577.2	+	27	3004	c.2983C>T	c.(2983-2985)Cgg>Tgg	p.R995W		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	995				R -> W (in Ref. 5; AAH40352).	carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GTGGCAGGATCGGAGGGACAG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	87	94			NA	NA	9		NA											NA				131755939		2203	4300	6503	SO:0001583	missense			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319	23511	23511			17859	protein-coding gene	gene with protein product		615587	KIAA0169	KIAA0169	NA	11029043	Standard		NM_015354	NA	Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.2983C>T	9.37:g.131755939C>T	ENSP00000361658:p.Arg995Trp	NA	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	37	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570353	0.86542	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.37058	1.22	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.60805	0.2297	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.991;0.993	T	0.62011	-0.6944	10	0.87932	D	0	0.1735	18.8488	0.92218	0.0:1.0:0.0:0.0	.	328;995	E9PET9;Q5SRE5	.;NU188_HUMAN	W	884;995	ENSP00000361658:R995W	ENSP00000349125:R884W	R	+	1	2	NUP188	130795760	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	5.400000	0.66320	2.767000	0.95098	0.655000	0.94253	CGG	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054529.2		+	ENST00000372577.2	Missense_Mutation	SNP	9 : 131755939 - 131755939 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	293	52
GATAD2A	54815	broad.mit.edu	37	19	19613287	19613287	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19613287G>A	ENST00000404158.1	+	13	2144	c.1726G>A	c.(1726-1728)Ggc>Agc	p.G576S	GATAD2A_ENST00000252577.5_Missense_Mutation_p.G550S|GATAD2A_ENST00000429563.2_Missense_Mutation_p.G378S|GATAD2A_ENST00000358713.3_Missense_Mutation_p.G575S|GATAD2A_ENST00000537887.1_Missense_Mutation_p.G204S|GATAD2A_ENST00000360315.3_Missense_Mutation_p.G575S			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	575					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						CGTGAGCGCCGGCAAGGGCAG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	66	74	71		1723	-2.3	0	19		71	1,8599	1.2+/-3.3	0,1,4299	yes	missense	GATAD2A	NM_017660.3	56	0,2,6501	AA,AG,GG	NA	0.0116,0.0227,0.0154	benign	575/634	19613287	2,13004	2203	4300	6503	SO:0001583	missense			AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491	54815	54815		GATA zinc finger domain containing	29989	protein-coding gene	gene with protein product	p66 alpha	614997			NA	12183469	Standard	NM_017660	NM_017660	NA	Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000404158.1:c.1726G>A	19.37:g.19613287G>A	ENSP00000384899:p.Gly576Ser	NA	Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.707|2.707	-0.269549|-0.269549	0.05716|0.05716	2.27E-4|2.27E-4	1.16E-4|1.16E-4	ENSG00000167491|ENSG00000167491	ENST00000360315;ENST00000252577;ENST00000537887;ENST00000404158;ENST00000358713;ENST00000429563|ENST00000418032	T;T;T;T|.	0.42513|.	1.53;1.56;1.53;0.97|.	5.04|5.04	-2.26|-2.26	0.06867|0.06867	.|.	0.569617|.	0.19591|.	N|.	0.110628|.	T|T	0.32406|0.32406	0.0828|0.0828	L|L	0.34521|0.34521	1.04|1.04	0.20196|0.20196	N|N	0.99992|0.99992	B;B;B|.	0.06786|.	0.001;0.001;0.001|.	B;B;B|.	0.06405|.	0.001;0.001;0.002|.	T|T	0.37979|0.37979	-0.9682|-0.9682	10|5	0.22109|.	T|.	0.4|.	-5.3751|-5.3751	9.6909|9.6909	0.40127|0.40127	0.5268:0.0:0.4732:0.0|0.5268:0.0:0.4732:0.0	.|.	378;595;575|.	B4DKZ7;B5MC40;Q86YP4|.	.;.;P66A_HUMAN|.	S|Q	575;550;204;595;575;378|176	ENSP00000353463:G575S;ENSP00000252577:G550S;ENSP00000351552:G575S;ENSP00000388416:G378S|.	ENSP00000252577:G550S|.	G|R	+|+	1|2	0|0	GATAD2A|GATAD2A	19474287|19474287	0.037000|0.037000	0.19845|0.19845	0.047000|0.047000	0.18901|0.18901	0.125000|0.125000	0.20455|0.20455	0.302000|0.302000	0.19192|0.19192	-0.142000|-0.142000	0.11354|0.11354	-0.143000|-0.143000	0.13931|0.13931	GGC|CGG	GATAD2A-002	NOVEL	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000326672.4		+	ENST00000404158.1	Missense_Mutation	SNP	19 : 19613287 - 19613287 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	681	159
GUCY1A3	2982	broad.mit.edu	37	4	156631699	156631699	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156631699C>T	ENST00000296518.7	+	6	591	c.382C>T	c.(382-384)Cca>Tca	p.P128S	GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.P128S|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.P128S|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.P128S|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.P128S|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.P128S			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	128					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TTCAGGAGTTCCAGTGGAGGT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	70	69			NA	NA	4		NA											NA				156631699		2203	4300	6503	SO:0001583	missense				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	2982	2982	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3	NA	1352257	Standard		NM_001130687	NA	Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.382C>T	4.37:g.156631699C>T	ENSP00000296518:p.Pro128Ser	NA	D3DP19|O43843|Q8TAH3	37	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010766	0.35511	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000296518;ENST00000513574	T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08	5.38	4.52	0.55395	Heme-NO binding (1);	0.095478	0.46442	D	0.000289	T	0.41143	0.1146	M	0.70275	2.135	0.51012	D	0.999901	B;B;B	0.13145	0.007;0.007;0.007	B;B;B	0.21546	0.035;0.035;0.035	T	0.43572	-0.9383	10	0.02654	T	1	.	16.267	0.82593	0.0:0.867:0.133:0.0	.	128;128;128	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	S	128	ENSP00000424361:P128S;ENSP00000421493:P128S;ENSP00000426968:P128S;ENSP00000412201:P128S;ENSP00000296518:P128S;ENSP00000426040:P128S	ENSP00000296518:P128S	P	+	1	0	GUCY1A3	156851149	1.000000	0.71417	0.049000	0.19019	0.618000	0.37518	4.260000	0.58835	1.351000	0.45789	0.650000	0.86243	CCA	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365786.2		+	ENST00000296518.7	Missense_Mutation	SNP	4 : 156631699 - 156631699 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	314	49
NDFIP1	80762	broad.mit.edu	37	5	141511891	141511891	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141511891C>A	ENST00000253814.4	+	3	736	c.266C>A	c.(265-267)cCt>cAt	p.P89H	NDFIP1_ENST00000509436.1_Intron	NM_030571.3	NP_085048.1	Q9BT67	NFIP1_HUMAN	Nedd4 family interacting protein 1	89					cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endosome membrane|extracellular region|Golgi membrane|integral to membrane|perinuclear region of cytoplasm	signal transducer activity			large_intestine(3)|lung(1)|ovary(1)	5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTACTATCCCTTTGGTTCCT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	159	164			NA	NA	5		NA											NA				141511891		2203	4300	6503	SO:0001583	missense			BC004317	CCDS4273.1	5q31.3	2008-02-05			ENSG00000131507	ENSG00000131507	80762	80762			17592	protein-coding gene	gene with protein product		612050			NA	11042109, 11748237	Standard	NM_030571	NM_030571	NA	Approved	N4WBP5, MGC10924	uc003lmi.4	Q9BT67	OTTHUMG00000129659	ENST00000253814.4:c.266C>A	5.37:g.141511891C>A	ENSP00000253814:p.Pro89His	NA	B2RDB8|D3DQF0|Q658T8|Q8N2E3|Q8N2F9	37	CCDS4273.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858703	0.91433	.	.	ENSG00000131507	ENST00000253814	.	.	.	5.53	5.53	0.82687	.	0.100365	0.64402	D	0.000001	T	0.79913	0.4528	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80944	-0.1156	9	0.87932	D	0	-15.0688	19.8208	0.96592	0.0:1.0:0.0:0.0	.	89	Q9BT67	NFIP1_HUMAN	H	89	.	ENSP00000253814:P89H	P	+	2	0	NDFIP1	141492075	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.338000	0.79269	2.771000	0.95319	0.591000	0.81541	CCT	NDFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251859.2		+	ENST00000253814.4	Missense_Mutation	SNP	5 : 141511891 - 141511891 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	606	131
SLC38A7	55238	broad.mit.edu	37	16	58711301	58711301	+	Silent	SNP	G	G	A	rs111704627	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58711301G>A	ENST00000564100.1	-	5	1506	c.639C>T	c.(637-639)taC>taT	p.Y213Y	SLC38A7_ENST00000570101.1_Silent_p.Y213Y|SLC38A7_ENST00000219320.4_Silent_p.Y213Y|SLC38A7_ENST00000564010.1_Silent_p.Y124Y|SLC38A7_ENST00000566953.1_Intron			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	213					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						TGGCTGTGACGTACCAGGTAC	0.557		NA											G	0	0	NA	NA	2184	NA	0.9995	,	,	NA	3e-04	NA	NA	NA	2e-04	0.4998	LOWCOV	NA	NA	3e-04	SNP								NA				0								G		6,4390	11.4+/-27.6	0,6,2192	172	126	142		639	-5.1	0.9	16	dbSNP_132	142	0,8600		0,0,4300	no	coding-synonymous	SLC38A7	NM_018231.1		0,6,6492	AA,AG,GG	NA	0.0,0.1365,0.0462		213/463	58711301	6,12990	2198	4300	6498	SO:0001819	synonymous_variant			BC001961	CCDS10800.1	16q21	2013-05-22			ENSG00000103042	ENSG00000103042	55238	55238		Solute carriers	25582	protein-coding gene	gene with protein product		614236			NA		Standard	NM_018231	XM_006721229	NA	Approved	FLJ10815	uc002eod.1	Q9NVC3	OTTHUMG00000133491	ENST00000564100.1:c.639C>T	16.37:g.58711301G>A		NA	Q53GJ9|Q9H9I5	37																																																																																				SLC38A7-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000422205.1		-	ENST00000564100.1	Silent	SNP	16 : 58711301 - 58711301 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	449	45
GSTO2	119391	broad.mit.edu	37	10	106037862	106037862	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106037862G>A	ENST00000369707.2	+	2	384	c.270G>A	c.(268-270)gaG>gaA	p.E90E	GSTO2_ENST00000338595.2_Silent_p.E118E|GSTO2_ENST00000429569.2_Silent_p.E90E|GSTO2_ENST00000401888.2_Silent_p.E118E|GSTO2_ENST00000450629.2_Silent_p.E118E|GSTO2_ENST00000477078.2_3'UTR	NM_001191014.1	NP_001177943.1	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2	NA	GST N-terminal.				water-soluble vitamin metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	TGTTATTGGAGCTATTTTGTA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	77	80			NA	NA	10		NA											NA				106037862		2203	4300	6503	SO:0001819	synonymous_variant			AY191318	CCDS7556.1, CCDS53574.1, CCDS53575.1	10q25.1	2012-06-21			ENSG00000065621	ENSG00000065621	119391	119391	2.5.1.18, 1.8.5.1, 1.20.4.2	Glutathione S-transferases / Soluble	23064	protein-coding gene	gene with protein product		612314			NA	12618591	Standard	NM_183239	NM_001191013	NA	Approved		uc001kyb.3	Q9H4Y5	OTTHUMG00000019006	ENST00000369707.2:c.270G>A	10.37:g.106037862G>A		NA	A8K771|Q49TW5|Q5GM70|Q86WP3	37	CCDS53575.1																																																																																			GSTO2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050211.3		+	ENST00000369707.2	Silent	SNP	10 : 106037862 - 106037862 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	170	26
ADCK3	56997	broad.mit.edu	37	1	227172643	227172643	+	Splice_Site	SNP	G	G	A	rs113227759		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227172643G>A	ENST00000366779.1	+	18	4343		c.e18+1		ADCK3_ENST00000366777.3_Splice_Site|ADCK3_ENST00000366778.1_Splice_Site|ADCK3_ENST00000433743.2_Splice_Site|ADCK3_ENST00000458507.2_Splice_Site|ADCK3_ENST00000478406.1_Splice_Site			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	NA					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CTACATTCAGGTAACTGGAGA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	55	55			NA	NA	1		NA											NA				227172643		2203	4300	6503	SO:0001630	splice_region_variant			AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050	56997	56997			16812	protein-coding gene	gene with protein product	coenzyme Q8 homolog (yeast)	606980	chaperone-ABC1 (activity of bc1 complex, S.pombe)-like, chaperone, ABC1 activity of bc1 complex like (S. pombe), chaperone, ABC1 activity of bc1 complex homolog (S. pombe)	CABC1	NA		Standard	NM_020247	NM_020247	NA	Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.1572+1G>A	1.37:g.227172643G>A		NA	Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	37	CCDS1557.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050988	0.75960	.	.	ENSG00000163050	ENST00000366779;ENST00000366778;ENST00000366777;ENST00000366776;ENST00000458507;ENST00000366775;ENST00000405743;ENST00000433743	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8324	0.92145	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADCK3	225239266	1.000000	0.71417	0.996000	0.52242	0.734000	0.41952	9.805000	0.99149	2.429000	0.82318	0.561000	0.74099	.	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091712.1	Intron	+	ENST00000366779.1	Splice_Site	SNP	1 : 227172643 - 227172643 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	293	70
SCN8A	6334	broad.mit.edu	37	12	52080881	52080881	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52080881G>A	ENST00000354534.6	+	5	670	c.492G>A	c.(490-492)acG>acA	p.T164T	SCN8A_ENST00000545061.1_Silent_p.T164T|SCN8A_ENST00000550891.1_Silent_p.T164T	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	NA					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	ACAGGTACACGTTCACAGGGA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	91	94			NA	NA	12		NA											NA				52080881		1848	4088	5936	SO:0001819	synonymous_variant			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876	6334	6334		Sodium channels, Voltage-gated ion channels / Sodium channels	10596	protein-coding gene	gene with protein product		600702	sodium channel, voltage gated, type VIII, alpha polypeptide	MED	NA	7670495, 9828131, 16382098	Standard	NM_014191	NM_014191	NA	Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.492G>A	12.37:g.52080881G>A		NA	B9VWG8|O95788|Q9NYX2|Q9UPB2	37	CCDS44891.1																																																																																			SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404372.3		+	ENST00000354534.6	Silent	SNP	12 : 52080881 - 52080881 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	26
TOPBP1	11073	broad.mit.edu	37	3	133337217	133337217	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133337217A>G	ENST00000260810.5	-	21	3563	c.3432T>C	c.(3430-3432)atT>atC	p.I1144I		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1144					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						GGTCATCCCAAATGATCTGTT	0.458		NA						Other conserved DNA damage response genes						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(21;193 658 4424 15423 17362)							NA				0													158	152	154			NA	NA	3		NA											NA				133337217		1950	4160	6110	SO:0001819	synonymous_variant			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781	11073	11073			17008	protein-coding gene	gene with protein product		607760			NA	9461304, 9039502	Standard	NM_007027	NM_007027	NA	Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.3432T>C	3.37:g.133337217A>G		NA	B7Z7W8|Q7LGC1|Q9UEB9	37	CCDS46919.1																																																																																			TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357254.1		-	ENST00000260810.5	Silent	SNP	3 : 133337217 - 133337217 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	710	147
PDE4DIP	9659	broad.mit.edu	37	1	144917575	144917575	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144917575C>T	ENST00000530740.1	-	15	1978	c.1940G>A	c.(1939-1941)cGt>cAt	p.R647H	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R510H|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.R510H|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R673H|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.R510H|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R510H|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.R297H|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.R673H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R576H|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R647H			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	510					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.R510H(1)|p.R673H(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CACAGCAAGACGAAGCTGGCG	0.448		NA	T	PDGFRB	MPD									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	2	Substitution - Missense(2)	prostate(2)						C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	271	261	264		1529,1529,1727,1529,2018	-0.3	0	1		264	2,8590	2.2+/-6.3	0,2,4294	no	missense,missense,missense,missense,missense	PDE4DIP	NM_014644.4,NM_001198834.2,NM_001198832.1,NM_001002812.1,NM_001002811.1	29,29,29,29,29	0,2,6497	TT,TC,CC	NA	0.0233,0.0,0.0154	benign,benign,benign,benign,benign	510/2347,510/2363,576/2241,510/970,673/1133	144917575	2,12996	2203	4296	6499	SO:0001583	missense			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104	9659	9659			15580	protein-coding gene	gene with protein product	myomegalin	608117	cardiomyopathy associated 2	CMYA2	NA	9455484, 11134006	Standard	NM_022359	NM_022359	NA	Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000530740.1:c.1940G>A	1.37:g.144917575C>T	ENSP00000435654:p.Arg647His	NA	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	37		.	.	.	.	.	.	.	.	.	.	C	9.194	1.026704	0.19512	0.0	2.33E-4	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.12774	4.66;4.73;4.73;4.75;4.74;3.74;3.74;2.66;2.66;2.65	6.04	-0.323	0.12709	.	.	.	.	.	T	0.02156	0.0067	N	0.16307	0.4	0.20764	N	0.999859	B;B;B;B;B;B	0.27192	0.018;0.009;0.0;0.022;0.171;0.006	B;B;B;B;B;B	0.17098	0.01;0.012;0.0;0.009;0.017;0.001	T	0.45041	-0.9288	9	0.25751	T	0.34	.	9.7616	0.40534	0.0:0.4482:0.0:0.5518	.	673;297;510;673;576;510	E9PL24;E9PQG4;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;.;MYOME_HUMAN	H	576;510;510;673;647;647;510;510;673;673;297	ENSP00000327209:R576H;ENSP00000358360:R510H;ENSP00000358363:R510H;ENSP00000435654:R647H;ENSP00000358366:R647H;ENSP00000358357:R510H;ENSP00000358355:R510H;ENSP00000316434:R673H;ENSP00000433392:R673H;ENSP00000436791:R297H	ENSP00000327209:R576H	R	-	2	0	PDE4DIP	143628932	0.235000	0.23794	0.012000	0.15200	0.775000	0.43874	0.522000	0.22909	-0.060000	0.13132	-0.312000	0.09012	CGT	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000384663.2		-	ENST00000530740.1	Missense_Mutation	SNP	1 : 144917575 - 144917575 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1691	79
CCDC141	285025	broad.mit.edu	37	2	179714776	179714776	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179714776C>T	ENST00000420890.2	-	21	3474	c.3357G>A	c.(3355-3357)aaG>aaA	p.K1119K	CCDC141_ENST00000295723.5_Splice_Site_p.K544K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	544							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AAGAAATTACCTTCAGTTTTT	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	82	82			NA	NA	2		NA											NA				179714776		2203	4300	6503	SO:0001630	splice_region_variant			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492	285025	285025		Immunoglobulin superfamily / Immunoglobulin-like domain containing	26821	protein-coding gene	gene with protein product	coiled-coil protein associated with myosin II and DISC1				NA	20956536	Standard	NM_173648	NM_173648	NA	Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3357+1G>A	2.37:g.179714776C>T		NA	Q8N8H3	37																																																																																				CCDC141-202	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding		Silent	-	ENST00000420890.2	Splice_Site	SNP	2 : 179714776 - 179714776 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	363	56
SLC24A3	57419	broad.mit.edu	37	20	19698237	19698237	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:19698237G>A	ENST00000328041.6	+	16	1982	c.1785G>A	c.(1783-1785)acG>acA	p.T595T		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	595						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTTTTGTCACGGTAGGTTGGC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													237	229	231			NA	NA	20		NA											NA				19698237		2203	4300	6503	SO:0001630	splice_region_variant			AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052	57419	57419		Solute carriers	10977	protein-coding gene	gene with protein product		609839			NA		Standard	NM_020689	NM_020689	NA	Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1785+1G>A	20.37:g.19698237G>A		NA	B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	37	CCDS13140.1																																																																																			SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078207.4	Silent	+	ENST00000328041.6	Splice_Site	SNP	20 : 19698237 - 19698237 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1358	268
CCDC135	0	broad.mit.edu	37	16	57732027	57732027	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57732027C>A	ENST00000360716.3	+	3	387	c.166C>A	c.(166-168)Ctg>Atg	p.L56M	RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_Missense_Mutation_p.L56M|CCDC135_ENST00000394337.4_Missense_Mutation_p.L56M			Q8IY82	CC135_HUMAN		56						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GGAGAAGAAGCTGTCAGAGAT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	92	95			NA	NA	16		NA											NA				57732027		2198	4300	6498	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000360716.3:c.166C>A	16.37:g.57732027C>A	ENSP00000353942:p.Leu56Met	NA	A8K943|Q8NAA0|Q9H080	37	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.368654	0.24771	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.20069	2.38;2.1;2.38	4.18	-1.39	0.08997	.	0.136039	0.33553	N	0.004795	T	0.39462	0.1079	M	0.79693	2.465	0.32066	N	0.595015	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.43458	-0.9390	10	0.72032	D	0.01	-8.9274	6.0355	0.19706	0.0:0.3466:0.4672:0.1862	.	56;56	Q8IY82-2;Q8IY82	.;CC135_HUMAN	M	56	ENSP00000377869:L56M;ENSP00000338938:L56M;ENSP00000353942:L56M	ENSP00000338938:L56M	L	+	1	2	CCDC135	56289528	0.894000	0.30519	0.393000	0.26258	0.022000	0.10575	-0.012000	0.12699	-0.191000	0.10448	-0.326000	0.08463	CTG	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000433323.2		+	ENST00000360716.3	Missense_Mutation	SNP	16 : 57732027 - 57732027 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	314	49
CDK7	1022	broad.mit.edu	37	5	68572463	68572463	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:68572463C>T	ENST00000502604.1	+	10	1169	c.679C>T	c.(679-681)Caa>Taa	p.Q227*	CDK7_ENST00000256443.3_Nonsense_Mutation_p.Q320*|CDK7_ENST00000514676.1_Nonsense_Mutation_p.Q283*			P50613	CDK7_HUMAN	cyclin-dependent kinase 7	320	Protein kinase.				androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		CTTAAAGGAGCAATCAAATCC	0.388		NA						Nucleotide excision repair (NER)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	72	71			NA	NA	5		NA											NA				68572463		2203	4300	6503	SO:0001587	stop_gained				CCDS3999.1	5q12.1	2012-11-05	2007-11-21		ENSG00000134058	ENSG00000134058	1022	1022		Cyclin-dependent kinases, General transcription factor IIH complex subunits	1778	protein-coding gene	gene with protein product		601955	cyclin-dependent kinase 7 (homolog of Xenopus MO15 cdk-activating kinase), cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase)		NA	8069918	Standard	NM_001799	NM_001799	NA	Approved	CAK1, CDKN7, MO15, STK1, CAK	uc003jvs.4	P50613	OTTHUMG00000099358	ENST00000502604.1:c.679C>T	5.37:g.68572463C>T	ENSP00000422121:p.Gln227*	NA	Q9BS60|Q9UE19	37		.	.	.	.	.	.	.	.	.	.	C	33	5.216077	0.95104	.	.	ENSG00000134058	ENST00000256443;ENST00000514676;ENST00000502604	.	.	.	5.3	4.42	0.53409	.	0.303860	0.36134	N	0.002778	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	12.6503	0.56757	0.0:0.9178:0.0:0.0822	.	.	.	.	X	320;283;227	.	ENSP00000256443:Q320X	Q	+	1	0	CDK7	68608219	0.942000	0.31987	0.776000	0.31678	0.294000	0.27393	2.565000	0.45939	2.636000	0.89361	0.655000	0.94253	CAA	CDK7-003	PUTATIVE	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000368934.1		+	ENST00000502604.1	Nonsense_Mutation	SNP	5 : 68572463 - 68572463 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	338	58
ADRBK1	156	broad.mit.edu	37	11	67049920	67049920	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67049920A>G	ENST00000308595.5	+	13	1357	c.1067A>G	c.(1066-1068)tAc>tGc	p.Y356C	ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Missense_Mutation_p.Y356C	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	356	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	ACCCACGGGTACATGGCTCCG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	76	75			NA	NA	11		NA											NA				67049920		2200	4295	6495	SO:0001583	missense			X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020	156	156		Pleckstrin homology (PH) domain containing	289	protein-coding gene	gene with protein product		109635			NA	2037065	Standard	NM_001619	NM_001619	NA	Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1067A>G	11.37:g.67049920A>G	ENSP00000312262:p.Tyr356Cys	NA	B0ZBE1|Q13837|Q6GTT3	37	CCDS8156.1	.	.	.	.	.	.	.	.	.	.	A	17.47	3.398443	0.62177	.	.	ENSG00000173020	ENST00000308595;ENST00000526285	T;T	0.59638	0.25;0.25	5.57	4.4	0.53042	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000040	T	0.80778	0.4688	M	0.93594	3.435	0.52501	D	0.999959	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85634	0.1272	10	0.87932	D	0	-2.2284	12.7695	0.57412	0.8634:0.1366:0.0:0.0	.	356;356	P25098;E9PRV7	ARBK1_HUMAN;.	C	356	ENSP00000312262:Y356C;ENSP00000434126:Y356C	ENSP00000312262:Y356C	Y	+	2	0	ADRBK1	66806496	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	5.939000	0.70179	2.117000	0.64856	0.459000	0.35465	TAC	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393153.1		+	ENST00000308595.5	Missense_Mutation	SNP	11 : 67049920 - 67049920 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	512	84
TMEM147	10430	broad.mit.edu	37	19	36037431	36037431	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36037431C>T	ENST00000392204.2	+	2	332	c.4C>T	c.(4-6)Ctg>Ttg	p.L2L	TMEM147_ENST00000392205.1_Silent_p.L51L|TMEM147_ENST00000222284.5_Silent_p.L51L	NM_001242597.1	NP_001229526.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	51						endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TTCTCAGATGCTGTTCTTGGC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	141	148			NA	NA	19		NA											NA				36037431		2203	4300	6503	SO:0001819	synonymous_variant			BC001118	CCDS12466.1, CCDS56091.1	19q13.12	2010-08-13			ENSG00000105677	ENSG00000105677	10430	10430			30414	protein-coding gene	gene with protein product		613585			NA	20538592	Standard	NM_032635	NM_032635	NA	Approved	NIFIE14, MGC1936	uc002oaj.2	Q9BVK8	OTTHUMG00000048105	ENST00000392204.2:c.4C>T	19.37:g.36037431C>T		NA	O75790	37	CCDS56091.1																																																																																			TMEM147-002	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109467.1		+	ENST00000392204.2	Silent	SNP	19 : 36037431 - 36037431 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	290	45
LEPRE1	64175	broad.mit.edu	37	1	43213396	43213396	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43213396T>C	ENST00000236040.4	-	13	1952	c.1912A>G	c.(1912-1914)Acg>Gcg	p.T638A	LEPRE1_ENST00000296388.5_Missense_Mutation_p.T638A|LEPRE1_ENST00000462474.1_5'UTR|LEPRE1_ENST00000397054.3_Missense_Mutation_p.T638A	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	638	Fe2OG dioxygenase.				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GCACTCACCGTCACGGTCTTG	0.473		NA									OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													190	189	189			NA	NA	1		NA											NA				43213396		2203	4300	6503	SO:0001583	missense			AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385	64175	64175			19316	protein-coding gene	gene with protein product	prolyl 3-hydroxylase 1, growth suppressor 1	610339			NA	10951563	Standard	NM_022356	NM_022356	NA	Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000236040.4:c.1912A>G	1.37:g.43213396T>C	ENSP00000236040:p.Thr638Ala	914	Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	37	CCDS57986.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.283536	0.80803	.	.	ENSG00000117385	ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027	T;T;T	0.42900	0.96;0.96;0.96	5.1	5.1	0.69264	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.054971	0.64402	D	0.000001	T	0.49813	0.1579	L	0.52206	1.635	0.47994	D	0.999569	P;P;D	0.58620	0.949;0.907;0.983	P;P;P	0.53593	0.73;0.589;0.715	T	0.53358	-0.8450	10	0.72032	D	0.01	-18.7453	12.8443	0.57821	0.0:0.0:0.0:1.0	.	638;503;638	Q32P28-3;B4DNM8;Q32P28	.;.;P3H1_HUMAN	A	638;638;638;503	ENSP00000380245:T638A;ENSP00000236040:T638A;ENSP00000296388:T638A	ENSP00000236040:T638A	T	-	1	0	LEPRE1	42985983	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	7.589000	0.82641	1.922000	0.55676	0.533000	0.62120	ACG	LEPRE1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019791.1		-	ENST00000236040.4	Missense_Mutation	SNP	1 : 43213396 - 43213396 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	822	226
A1BG	1	broad.mit.edu	37	19	58864689	58864689	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58864689G>A	ENST00000263100.3	-	2	100	c.39C>T	c.(37-39)gtC>gtT	p.V13V	A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000593960.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	13						extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		GGCCCCAGGTGACACCTGCGG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	33	32			NA	NA	19		NA											NA				58864689		2198	4297	6495	SO:0001819	synonymous_variant				CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410	1	1		Immunoglobulin superfamily / Immunoglobulin-like domain containing	5	protein-coding gene	gene with protein product		138670			NA	2591067	Standard	NM_130786	NM_130786	NA	Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.39C>T	19.37:g.58864689G>A		NA	A8K052|Q68CK0|Q8IYJ6|Q96P39	37	CCDS12976.1																																																																																			A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466930.1		-	ENST00000263100.3	Silent	SNP	19 : 58864689 - 58864689 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	115	26
HYAL2	8692	broad.mit.edu	37	3	50357048	50357048	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50357048G>A	ENST00000447092.1	-	1	3165	c.873C>T	c.(871-873)taC>taT	p.Y291Y	HYAL2_ENST00000442581.1_Silent_p.Y291Y|HYAL2_ENST00000395139.3_Silent_p.Y291Y|HYAL2_ENST00000357750.4_Silent_p.Y291Y			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	291						anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Hyaluronidase(DB00070)	GTGTGAAGACGTAGACTGGGA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	2,4404	4.2+/-10.8	0,2,2201	49	50	49		873,873	-6.2	0.6	3		49	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	HYAL2	NM_003773.4,NM_033158.4	,	0,2,6501	AA,AG,GG	NA	0.0,0.0454,0.0154	,	291/474,291/474	50357048	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AJ000099	CCDS2818.1	3p21.3	2008-07-18			ENSG00000068001	ENSG00000068001	8692	8692			5321	protein-coding gene	gene with protein product	lysosomal hyaluronidase, PH-20 homolog, hyaluronidase 2	603551			NA	9712871, 9790770	Standard	NM_003773	NM_003773	NA	Approved	LuCa-2, LUCA2	uc003czv.3	Q12891	OTTHUMG00000156876	ENST00000447092.1:c.873C>T	3.37:g.50357048G>A		NA	O15177|Q9BW29	37	CCDS2818.1																																																																																			HYAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346391.1		-	ENST00000447092.1	Silent	SNP	3 : 50357048 - 50357048 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	178	34
ARHGAP17	55114	broad.mit.edu	37	16	24931466	24931466	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24931466C>A	ENST00000289968.6	-	20	2700	c.2631G>T	c.(2629-2631)gaG>gaT	p.E877D	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.E799D|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	877					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GGGCAGTGCTCTCGGTATCAT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													211	202	205			NA	NA	16		NA											NA				24931466		2197	4300	6497	SO:0001583	missense			AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750	55114	55114		Rho GTPase activating proteins	18239	protein-coding gene	gene with protein product		608293			NA	10967100, 11431473	Standard	NM_018054	XM_005255413	NA	Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.2631G>T	16.37:g.24931466C>A	ENSP00000289968:p.Glu877Asp	NA	A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	37	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.295147	0.23564	.	.	ENSG00000140750	ENST00000289968;ENST00000303665	T;T	0.36520	1.49;1.25	6.08	-7.63	0.01290	.	0.000000	0.41396	D	0.000890	T	0.51160	0.1658	M	0.65975	2.015	0.33623	D	0.605049	D;D;D;D	0.76494	0.996;0.994;0.998;0.999	D;D;D;D	0.77557	0.987;0.97;0.99;0.987	T	0.66085	-0.6011	10	0.87932	D	0	.	17.2368	0.87001	0.0:0.6168:0.0:0.3832	.	799;877;410;710	Q68EM7-2;Q68EM7;Q68EM7-7;B4DWE9	.;RHG17_HUMAN;.;.	D	877;799	ENSP00000289968:E877D;ENSP00000303130:E799D	ENSP00000289968:E877D	E	-	3	2	ARHGAP17	24838967	0.035000	0.19736	0.083000	0.20561	0.012000	0.07955	-1.553000	0.02174	-1.429000	0.01987	-1.631000	0.00782	GAG	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000436548.3		-	ENST00000289968.6	Missense_Mutation	SNP	16 : 24931466 - 24931466 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	834	156
HNRNPH1	3187	broad.mit.edu	37	5	179044893	179044893	+	Silent	SNP	G	G	A	rs78795662	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179044893G>A	ENST00000356731.5	-	7	2363	c.828C>T	c.(826-828)taC>taT	p.Y276Y	HNRNPH1_ENST00000393432.4_Silent_p.Y276Y|HNRNPH1_ENST00000442819.2_Silent_p.Y276Y|HNRNPH1_ENST00000510411.1_Silent_p.Y276Y|HNRNPH1_ENST00000511300.2_Silent_p.Y6Y|HNRNPH1_ENST00000329433.6_Silent_p.Y276Y			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	276	2 X 16 AA Gly-rich approximate repeats.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						CACCATCCCCGTATCTGTGAT	0.418		NA											g	3	0.0014	NA	NA	2184	NA	0.9999	,	,	NA	0.0013	0.004	NA	NA	0.0014	0.9682	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0								G		1,4405	2.1+/-5.4	0,1,2202	141	122	129		828	-8.2	0.5	5	dbSNP_132	129	26,8574	18.5+/-59.3	0,26,4274	no	coding-synonymous	HNRNPH1	NM_005520.2		0,27,6476	AA,AG,GG	NA	0.3023,0.0227,0.2076		276/450	179044893	27,12979	2203	4300	6503	SO:0001819	synonymous_variant			BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045	3187	3187		RNA binding motif (RRM) containing	5041	protein-coding gene	gene with protein product		601035		HNRPH1	NA	7499401	Standard	NM_005520	NM_005520	NA	Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.828C>T	5.37:g.179044893G>A		NA	B3KW86|D3DWQ2|Q6IBM4	37	CCDS4446.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	g	6.690	0.495996	0.12762	2.27E-4	0.003023	ENSG00000169045	ENST00000521173	.	.	.	5.59	-8.16	0.01061	.	.	.	.	.	T	0.66799	0.2826	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72304	-0.4333	4	.	.	.	-7.2366	20.0627	0.97684	0.7951:0.0:0.2049:0.0	.	.	.	.	M	151	.	.	T	-	2	0	HNRNPH1	178977499	0.043000	0.20138	0.496000	0.27539	0.971000	0.66376	-0.373000	0.07494	-1.706000	0.01404	-0.237000	0.12165	ACG	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253497.3		-	ENST00000356731.5	Silent	SNP	5 : 179044893 - 179044893 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	403	110
TP53I13	90313	broad.mit.edu	37	17	27899263	27899263	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27899263G>T	ENST00000301057.7	+	6	732	c.617G>T	c.(616-618)aGg>aTg	p.R206M	RP11-68I3.2_ENST00000581474.1_RNA	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	206						cytoplasm|integral to membrane|plasma membrane				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		AAGAGGCGGAGGCTGCGGGCT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	23	22			NA	NA	17		NA											NA				27899263		2023	4161	6184	SO:0001583	missense			AK075341	CCDS42289.1	17q11.2	2006-01-16				ENSG00000167543	90313	90313			25102	protein-coding gene	gene with protein product					NA	14767535	Standard	NM_138349	NM_138349	NA	Approved	DSCP1	uc002hee.3	Q8NBR0		ENST00000301057.7:c.617G>T	17.37:g.27899263G>T	ENSP00000301057:p.Arg206Met	NA	Q7L5U3	37	CCDS42289.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696978	0.68386	.	.	ENSG00000167543	ENST00000301057	.	.	.	3.94	3.94	0.45596	.	0.273278	0.28414	N	0.015435	T	0.25975	0.0633	N	0.22421	0.69	0.23411	N	0.997732	P	0.45827	0.867	B	0.41764	0.366	T	0.13953	-1.0490	9	0.52906	T	0.07	-15.1754	11.6787	0.51444	0.0:0.0:1.0:0.0	.	206	Q8NBR0	P5I13_HUMAN	M	206	.	ENSP00000301057:R206M	R	+	2	0	TP53I13	24923389	0.185000	0.23213	0.999000	0.59377	0.241000	0.25554	0.688000	0.25422	2.199000	0.70637	0.462000	0.41574	AGG	TP53I13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447804.2		+	ENST00000301057.7	Missense_Mutation	SNP	17 : 27899263 - 27899263 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	281	50
HAUS5	23354	broad.mit.edu	37	19	36106154	36106154	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36106154G>T	ENST00000203166.5	+	6	376	c.351G>T	c.(349-351)caG>caT	p.Q117H	HAUS5_ENST00000379045.2_Missense_Mutation_p.Q117H	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	117					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						AGGCACGTCAGCACACTCAAG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	35	33			NA	NA	19		NA											NA				36106154		2157	4259	6416	SO:0001583	missense			AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115	23354	23354		HAUS augmin-like complex subunits	29130	protein-coding gene	gene with protein product		613432	KIAA0841	KIAA0841	NA	10048485, 19427217	Standard		NM_015302	NA	Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.351G>T	19.37:g.36106154G>T	ENSP00000439056:p.Gln117His	NA	B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	37	CCDS42550.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478730	0.26511	.	.	ENSG00000249115	ENST00000203166;ENST00000379045	T;T	0.33216	1.42;1.42	5.52	2.13	0.27403	.	0.377447	0.27473	N	0.019217	T	0.28797	0.0714	M	0.69823	2.125	0.09310	N	1	B	0.18013	0.025	B	0.15052	0.012	T	0.31024	-0.9958	10	0.72032	D	0.01	-5.4362	5.3833	0.16204	0.1877:0.1629:0.6493:0.0	.	117	O94927	HAUS5_HUMAN	H	117	ENSP00000439056:Q117H;ENSP00000444373:Q117H	ENSP00000439056:Q117H	Q	+	3	2	HAUS5	40797994	0.950000	0.32346	0.066000	0.19879	0.002000	0.02628	1.781000	0.38644	0.250000	0.21479	-0.145000	0.13849	CAG	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459055.2		+	ENST00000203166.5	Missense_Mutation	SNP	19 : 36106154 - 36106154 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	186	30
FLNC	2318	broad.mit.edu	37	7	128489453	128489453	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128489453G>A	ENST00000325888.8	+	30	5281	c.5020G>A	c.(5020-5022)Ggt>Agt	p.G1674S	FLNC_ENST00000346177.6_Missense_Mutation_p.G1674S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1674					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CAAGGCAGCCGGTGAGGGGAA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	SER/GLY,SER/GLY	0,4356		0,0,2178	81	92	88		5020,5020	4.5	1	7		88	1,8539		0,1,4269	no	missense,missense	FLNC	NM_001127487.1,NM_001458.4	56,56	0,1,6447	AA,AG,GG	NA	0.0117,0.0,0.0078	probably-damaging,probably-damaging	1674/2693,1674/2726	128489453	1,12895	2178	4270	6448	SO:0001583	missense			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591	2318	2318			3756	protein-coding gene	gene with protein product	actin binding protein 280	102565	filamin C, gamma (actin binding protein 280)	FLN2	NA	7689010, 8088838	Standard		NM_001458	NA	Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5020G>A	7.37:g.128489453G>A	ENSP00000327145:p.Gly1674Ser	NA	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	37	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844753	0.91197	0.0	1.17E-4	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.94184	-3.37;-3.37	5.41	4.51	0.55191	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.97356	0.9135	M	0.92367	3.3	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97636	1.0145	10	0.48119	T	0.1	.	16.0085	0.80380	0.0:0.1347:0.8653:0.0	.	1674;1674	Q14315-2;Q14315	.;FLNC_HUMAN	S	1674	ENSP00000327145:G1674S;ENSP00000344002:G1674S	ENSP00000327145:G1674S	G	+	1	0	FLNC	128276689	1.000000	0.71417	0.991000	0.47740	0.976000	0.68499	9.869000	0.99810	1.245000	0.43885	0.655000	0.94253	GGT	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059948.3		+	ENST00000325888.8	Missense_Mutation	SNP	7 : 128489453 - 128489453 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	311	50
GPR39	2863	broad.mit.edu	37	2	133402959	133402959	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133402959C>T	ENST00000329321.3	+	2	1611	c.1142C>T	c.(1141-1143)aCc>aTc	p.T381I	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	381						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCGCACTCCACCACCGACAGC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	46	46			NA	NA	2		NA											NA				133402959		2203	4299	6502	SO:0001583	missense			AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840	2863	2863		GPCR / Class A : Orphans	4496	protein-coding gene	gene with protein product		602886			NA	9441746	Standard		NM_001508	NA	Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.1142C>T	2.37:g.133402959C>T	ENSP00000327417:p.Thr381Ile	NA	B2RC12|B6V9G4|Q08AS2|Q53R01	37	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566091	0.27915	.	.	ENSG00000183840	ENST00000329321	T	0.64991	-0.13	4.94	2.04	0.26737	.	3.978600	0.00610	N	0.000413	T	0.58250	0.2109	L	0.60455	1.87	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.16482	-1.0401	10	0.21540	T	0.41	.	6.3971	0.21618	0.1186:0.3915:0.4169:0.073	.	381	O43194	GPR39_HUMAN	I	381	ENSP00000327417:T381I	ENSP00000327417:T381I	T	+	2	0	GPR39	133119429	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.259000	0.08721	0.240000	0.21263	-0.219000	0.12488	ACC	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254582.1		+	ENST00000329321.3	Missense_Mutation	SNP	2 : 133402959 - 133402959 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	428	108
DUSP27	92235	broad.mit.edu	37	1	167097700	167097700	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167097700G>T	ENST00000361200.2	+	6	3498	c.3332G>T	c.(3331-3333)aGg>aTg	p.R1111M	DUSP27_ENST00000271385.5_Missense_Mutation_p.R1111M|DUSP27_ENST00000443333.1_Missense_Mutation_p.R1111M|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1111					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GAAGAAGGGAGGTTTGCATCT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	42	43			NA	NA	1		NA											NA				167097700		2203	4300	6503	SO:0001583	missense			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842	92235	92235			25034	protein-coding gene	gene with protein product					NA		Standard	NM_001080426	NM_001080426	NA	Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.3332G>T	1.37:g.167097700G>T	ENSP00000354483:p.Arg1111Met	NA	A0AUM4|Q9C074	37	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207181	0.58343	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03689	3.84;3.84;3.84	5.4	4.48	0.54585	.	0.000000	0.56097	D	0.000027	T	0.08537	0.0212	M	0.65975	2.015	0.35471	D	0.7973	D	0.76494	0.999	P	0.61328	0.887	T	0.01018	-1.1479	10	0.87932	D	0	-38.0246	14.5027	0.67732	0.0719:0.0:0.9281:0.0	.	1111	Q5VZP5	DUS27_HUMAN	M	1111	ENSP00000354483:R1111M;ENSP00000271385:R1111M;ENSP00000404874:R1111M	ENSP00000271385:R1111M	R	+	2	0	DUSP27	165364324	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.698000	0.37794	2.532000	0.85374	0.549000	0.68633	AGG	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083244.1		+	ENST00000361200.2	Missense_Mutation	SNP	1 : 167097700 - 167097700 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	231	27
GAD1	2571	broad.mit.edu	37	2	171678658	171678658	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171678658C>T	ENST00000358196.3	+	3	694	c.144C>T	c.(142-144)tgC>tgT	p.C48C	GAD1_ENST00000344257.5_Splice_Site_p.C48C|GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000375272.1_Splice_Site_p.C48C	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	48					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TCAAGATCTGCGGTAAGTGAC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	44	46			NA	NA	2		NA											NA				171678658		2203	4300	6503	SO:0001630	splice_region_variant				CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	2571	2571	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	glutamate decarboxylase 1 (brain, 67kD)	GAD	NA	1549570	Standard		XM_005246443	NA	Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.145+1C>T	2.37:g.171678658C>T		NA	Q53TQ7|Q9BU91|Q9UHH4	37	CCDS2239.1																																																																																			GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000102664.2	Silent	+	ENST00000358196.3	Splice_Site	SNP	2 : 171678658 - 171678658 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	131	16
DERL1	79139	broad.mit.edu	37	8	124054334	124054334	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124054334C>T	ENST00000259512.4	-	1	329	c.29G>A	c.(28-30)aGc>aAc	p.S10N	DERL1_ENST00000405944.3_Missense_Mutation_p.S10N|DERL1_ENST00000419562.2_Missense_Mutation_p.S10N	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	10					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CGCCGGGATGCTCCTGAACCA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	64	74			NA	NA	8		NA											NA				124054334		2203	4300	6503	SO:0001583	missense			BC002457	CCDS6337.1, CCDS47915.1	8q24.13	2012-02-01	2012-02-01		ENSG00000136986	ENSG00000136986	79139	79139			28454	protein-coding gene	gene with protein product		608813	Der1-like domain family, member 1		NA	12975309, 15215855	Standard	NM_024295	NM_024295	NA	Approved	MGC3067, PRO2577, FLJ13784, DER1, DER-1, derlin-1	uc003ypl.3	Q9BUN8	OTTHUMG00000165080	ENST00000259512.4:c.29G>A	8.37:g.124054334C>T	ENSP00000259512:p.Ser10Asn	NA	B3KW41|E9PH19	37	CCDS6337.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439631	0.43326	.	.	ENSG00000136986	ENST00000259512;ENST00000405944;ENST00000419562	T;T;T	0.34072	2.83;1.63;1.38	5.79	5.79	0.91817	.	0.114972	0.85682	D	0.000000	T	0.30135	0.0755	N	0.26042	0.785	0.80722	D	1	B;B;B	0.14012	0.003;0.009;0.003	B;B;B	0.15052	0.002;0.012;0.008	T	0.04900	-1.0919	10	0.22706	T	0.39	.	20.039	0.97573	0.0:1.0:0.0:0.0	.	10;10;10	B4E1G1;Q9BUN8-2;Q9BUN8	.;.;DERL1_HUMAN	N	10	ENSP00000259512:S10N;ENSP00000384289:S10N;ENSP00000389965:S10N	ENSP00000259512:S10N	S	-	2	0	DERL1	124123515	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	5.261000	0.65496	2.743000	0.94032	0.453000	0.30009	AGC	DERL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381714.2		-	ENST00000259512.4	Missense_Mutation	SNP	8 : 124054334 - 124054334 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	177	34
DVL2	1856	broad.mit.edu	37	17	7129389	7129389	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7129389G>A	ENST00000005340.5	-	15	2288	c.2006C>T	c.(2005-2007)cCg>cTg	p.P669L	DVL2_ENST00000575458.1_Missense_Mutation_p.P663L	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	669					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GCCAGGGGGCGGTCCATAGGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	38	36			NA	NA	17		NA											NA				7129389		2203	4300	6503	SO:0001583	missense			BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975	1856	1856		Dishevelled homologs	3086	protein-coding gene	gene with protein product		602151	dishevelled 2 (homologous to Drosophila dsh), dishevelled, dsh homolog 2 (Drosophila)		NA	8662242	Standard	NM_004422	NM_004422	NA	Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.2006C>T	17.37:g.7129389G>A	ENSP00000005340:p.Pro669Leu	NA	D3DTN3|Q53XM0	37	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	G	5.040	0.193054	0.09599	.	.	ENSG00000004975	ENST00000005340	T	0.04275	3.66	5.74	3.6	0.41247	Dishevelled C-terminal (1);	0.445516	0.24407	N	0.038790	T	0.02156	0.0067	N	0.08118	0	0.19575	N	0.999962	P;P	0.38110	0.618;0.618	B;B	0.27715	0.082;0.082	T	0.50092	-0.8868	10	0.25106	T	0.35	-4.3549	10.3068	0.43685	0.0:0.1472:0.7005:0.1523	.	663;669	B4DLQ0;O14641	.;DVL2_HUMAN	L	669	ENSP00000005340:P669L	ENSP00000005340:P669L	P	-	2	0	DVL2	7070113	1.000000	0.71417	0.523000	0.27875	0.974000	0.67602	4.992000	0.63889	1.396000	0.46663	0.561000	0.74099	CCG	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219999.2		-	ENST00000005340.5	Missense_Mutation	SNP	17 : 7129389 - 7129389 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	397	85
SVEP1	79987	broad.mit.edu	37	9	113276288	113276288	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113276288T>C	ENST00000374469.1	-	4	1257	c.994A>G	c.(994-996)Aca>Gca	p.T332A	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.T355A|SVEP1_ENST00000374461.1_Missense_Mutation_p.T332A|SVEP1_ENST00000401783.2_Missense_Mutation_p.T355A			Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	355			G -> A (in dbSNP:rs3818764).		cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCAGGGGATGTGCTTCCAGGT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	71	71			NA	NA	9		NA											NA				113276288		2004	4179	6183	SO:0001583	missense			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124	79987	79987			15985	protein-coding gene	gene with protein product		611691	chromosome 9 open reading frame 13	C9orf13	NA		Standard		NM_153366	NA	Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000374469.1:c.994A>G	9.37:g.113276288T>C	ENSP00000363593:p.Thr332Ala	NA	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	37		.	.	.	.	.	.	.	.	.	.	T	22.1	4.247229	0.80024	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	5.88	4.73	0.59995	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.049298	0.85682	D	0.000000	T	0.42854	0.1221	M	0.79258	2.445	0.37752	D	0.925993	D;D;D;D	0.89917	0.992;1.0;0.998;0.995	P;D;D;P	0.87578	0.851;0.998;0.977;0.847	T	0.51426	-0.8707	10	0.72032	D	0.01	.	13.2119	0.59830	0.0:0.0:0.133:0.867	.	355;355;355;355	E9PBN8;Q4LDE5;B3KV07;Q4LDE5-2	.;SVEP1_HUMAN;.;.	A	355;332;355;332	ENSP00000384917:T355A;ENSP00000363593:T332A;ENSP00000304118:T355A;ENSP00000363585:T332A	ENSP00000304118:T355A	T	-	1	0	SVEP1	112316109	1.000000	0.71417	0.940000	0.37924	0.810000	0.45777	7.673000	0.83973	1.024000	0.39682	0.528000	0.53228	ACA	SVEP1-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000053622.1		-	ENST00000374469.1	Missense_Mutation	SNP	9 : 113276288 - 113276288 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	86	15
RSPO4	343637	broad.mit.edu	37	20	944697	944697	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:944697G>A	ENST00000217260.4	-	4	572	c.476C>T	c.(475-477)tCg>tTg	p.S159L	RSPO4_ENST00000400634.2_Intron	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	159	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GCCCCAAGCCGAGCCGCAGGT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	23	21			NA	NA	20		NA											NA				944697		1877	4061	5938	SO:0001583	missense			AK122609	CCDS42845.1, CCDS42846.1	20p13	2014-01-30	2011-06-29	2005-08-08	ENSG00000101282	ENSG00000101282	343637	343637		Endogenous ligands	16175	protein-coding gene	gene with protein product		610573	chromosome 20 open reading frame 182, R-spondin family, member 4	C20orf182	NA	15469841	Standard	XM_297816	NM_001029871	NA	Approved	dJ824F16.3	uc002wej.3	Q2I0M5	OTTHUMG00000031651	ENST00000217260.4:c.476C>T	20.37:g.944697G>A	ENSP00000217260:p.Ser159Leu	NA	A2A2I6|Q9UGB2	37	CCDS42846.1	.	.	.	.	.	.	.	.	.	.	G	6.449	0.450969	0.12223	.	.	ENSG00000101282	ENST00000217260	T	0.79352	-1.26	4.35	3.4	0.38934	.	0.869683	0.09951	N	0.734660	T	0.65207	0.2669	L	0.39085	1.19	0.09310	N	0.999998	B	0.33022	0.394	B	0.28465	0.09	T	0.57785	-0.7751	10	0.59425	D	0.04	-14.9986	4.7996	0.13290	0.1985:0.1798:0.6217:0.0	.	159	Q2I0M5	RSPO4_HUMAN	L	159	ENSP00000217260:S159L	ENSP00000217260:S159L	S	-	2	0	RSPO4	892697	0.414000	0.25408	0.156000	0.22583	0.047000	0.14425	0.871000	0.28023	0.969000	0.38237	0.298000	0.19748	TCG	RSPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077492.3		-	ENST00000217260.4	Missense_Mutation	SNP	20 : 944697 - 944697 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	84
MAML3	55534	broad.mit.edu	37	4	140640600	140640600	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:140640600G>A	ENST00000509479.2	-	5	4150	c.3294C>T	c.(3292-3294)ggC>ggT	p.G1098G	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	1094					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					CAGCTCCGTCGCCACTGTAAT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	67	65			NA	NA	4		NA											NA				140640600		2172	4285	6457	SO:0001819	synonymous_variant			AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782	55534	55534			16272	protein-coding gene	gene with protein product	mastermind (drosophila)-like 3	608991	trinucleotide repeat containing 3	TNRC3	NA	12370315, 12386158	Standard		NM_018717	NA	Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.3294C>T	4.37:g.140640600G>A		NA	B2RNU9|B3KVV7	37	CCDS54805.1																																																																																			MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364934.2		-	ENST00000509479.2	Silent	SNP	4 : 140640600 - 140640600 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	400	58
SRGAP3	9901	broad.mit.edu	37	3	9055047	9055047	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9055047G>A	ENST00000383836.3	-	17	2519	c.2092C>T	c.(2092-2094)Cgg>Tgg	p.R698W	SRGAP3_ENST00000360413.3_Missense_Mutation_p.R674W	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	698					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCTAGCTCCCGGGGGCTGGGG	0.473		NA	T	RAF1	pilocytic astrocytoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	0													80	68	72			NA	NA	3		NA											NA				9055047		2203	4300	6503	SO:0001583	missense			AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220	9901	9901		Rho GTPase activating proteins	19744	protein-coding gene	gene with protein product		606525	SLIT-ROBO Rho GTPase activating protein 2	SRGAP2	NA	12195014	Standard		NM_014850	NA	Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2092C>T	3.37:g.9055047G>A	ENSP00000373347:p.Arg698Trp	NA	Q8IX13|Q8IZV8	37	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002577	0.74932	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.26518	1.73;2.15	5.7	3.73	0.42828	Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.36524	0.0970	L	0.29908	0.895	0.58432	D	0.999999	D;D	0.76494	0.999;0.996	D;D	0.68353	0.942;0.957	T	0.23154	-1.0196	10	0.72032	D	0.01	.	13.3197	0.60426	0.0:0.0:0.6146:0.3854	.	674;698	O43295-2;O43295	.;SRGP2_HUMAN	W	698;674	ENSP00000373347:R698W;ENSP00000353587:R674W	ENSP00000353587:R674W	R	-	1	2	SRGAP3	9030047	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	2.825000	0.48096	1.384000	0.46424	0.655000	0.94253	CGG	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207137.3		-	ENST00000383836.3	Missense_Mutation	SNP	3 : 9055047 - 9055047 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	67
MXRA7	439921	broad.mit.edu	37	17	74679976	74679976	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74679976C>T	ENST00000375036.2	-	4	591	c.534G>A	c.(532-534)taG>taA	p.*178*	MXRA7_ENST00000588114.1_Intron|MXRA7_ENST00000585519.1_Intron|MXRA7_ENST00000355797.3_Intron|MXRA7_ENST00000589082.1_Silent_p.*23*|MXRA7_ENST00000592148.1_Intron|MXRA7_ENST00000449428.2_Intron	NM_001008529.1	NP_001008529.1	P84157	MXRA7_HUMAN	matrix-remodelling associated 7	0						integral to membrane				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						AAGGAACTTGCTACAGGGAAG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	120	125			NA	NA	17		NA											NA				74679976		2203	4300	6503	SO:0001819	synonymous_variant			BC053983	CCDS32745.1, CCDS32746.1, CCDS45786.1	17q25.1	2007-08-01				ENSG00000182534	439921	439921			7541	protein-coding gene	gene with protein product					NA		Standard	NM_001008529	XM_005257382	NA	Approved	FLJ46603, TMAP1, PS1TP1	uc002jsk.1	P84157		ENST00000375036.2:c.534G>A	17.37:g.74679976C>T		NA	Q0P5W3	37	CCDS32746.1																																																																																			MXRA7-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450984.1		-	ENST00000375036.2	Silent	SNP	17 : 74679976 - 74679976 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	367	54
GPR98	84059	broad.mit.edu	37	5	89925335	89925335	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:89925335T>C	ENST00000405460.2	+	9	1914	c.1818T>C	c.(1816-1818)aaT>aaC	p.N606N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	606					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		tccttcaaaatggagctcact	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	55	55			NA	NA	5		NA											NA				89925335		1844	4083	5927	SO:0001819	synonymous_variant			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199	84059	84059		-, GPCR / Class B : Orphans	17416	protein-coding gene	gene with protein product		602851	monogenic, audiogenic seizure susceptibility 1 homolog (mouse)	USH2C, MASS1	NA	10976914, 14740321	Standard	NM_032119	NM_032119	NA	Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.1818T>C	5.37:g.89925335T>C		NA	O75171|Q8TF58|Q9H0X5|Q9UL61	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	T	9.095	1.002709	0.19121	.	.	ENSG00000164199	ENST00000504142	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	T	0.71753	0.3377	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71167	-0.4672	4	.	.	.	.	15.6442	0.77036	0.0:0.0:0.0:1.0	.	.	.	.	R	195	.	.	W	+	1	0	GPR98	89961091	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.434000	0.44802	2.104000	0.64026	0.533000	0.62120	TGG	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369993.2		+	ENST00000405460.2	Silent	SNP	5 : 89925335 - 89925335 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	43
RNFT1	51136	broad.mit.edu	37	17	58033915	58033915	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58033915C>A	ENST00000305783.8	-	7	1061		c.e7-1		RNFT1_ENST00000442346.2_Splice_Site|RP11-178C3.1_ENST00000591035.1_Intron	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1	NA						integral to membrane	zinc ion binding			large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			ATTCCAAAAGCTGAAAAGAGA	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	46	47			NA	NA	17		NA											NA				58033915		1796	4051	5847	SO:0001630	splice_region_variant			BC006971	CCDS11622.2	17q23.2	2013-01-09			ENSG00000189050	ENSG00000189050	51136	51136		RING-type (C3HC4) zinc fingers	30206	protein-coding gene	gene with protein product		615172			NA	12477932	Standard	NM_016125	NM_016125	NA	Approved	PTD016	uc002iya.3	Q5M7Z0	OTTHUMG00000148658	ENST00000305783.8:c.1006-1G>T	17.37:g.58033915C>A		NA	Q8N7D0|Q96IZ9|Q9Y686	37	CCDS11622.2	.	.	.	.	.	.	.	.	.	.	c	14.27	2.486454	0.44249	.	.	ENSG00000189050	ENST00000305783	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0542	0.89358	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RNFT1	55388697	1.000000	0.71417	1.000000	0.80357	0.459000	0.32528	5.784000	0.68990	2.486000	0.83907	0.557000	0.71058	.	RNFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000308958.1	Intron	-	ENST00000305783.8	Splice_Site	SNP	17 : 58033915 - 58033915 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	167	23
PPM1G	5496	broad.mit.edu	37	2	27605361	27605361	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27605361A>T	ENST00000344034.4	-	8	1577	c.1313T>A	c.(1312-1314)aTt>aAt	p.I438N	PPM1G_ENST00000350803.4_Missense_Mutation_p.I438N	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	438					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ATCACAGGCAATGACCATGAA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													232	217	222			NA	NA	2		NA											NA				27605361		2203	4300	6503	SO:0001583	missense			Y13936	CCDS1752.1	2p23.3	2012-04-17	2010-03-05		ENSG00000115241	ENSG00000115241	5496	5496	3.1.3.16	Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent	9278	protein-coding gene	gene with protein product	PP2C, gamma, protein phosphatase 2C, gamma isoform	605119	protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform		NA	9276438	Standard	NM_002707	NM_177983	NA	Approved	PP2CG, PP2Cgamma	uc002rkl.4	O15355	OTTHUMG00000097788	ENST00000344034.4:c.1313T>A	2.37:g.27605361A>T	ENSP00000342778:p.Ile438Asn	NA		37	CCDS1752.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.943702	0.73672	.	.	ENSG00000115241	ENST00000344034;ENST00000350803;ENST00000544412;ENST00000395543	T;T	0.19806	2.12;2.12	5.64	5.64	0.86602	Protein phosphatase 2C-like (5);	0.049370	0.85682	D	0.000000	T	0.55955	0.1953	M	0.93150	3.385	0.80722	D	1	D;D	0.69078	0.997;0.986	D;P	0.67725	0.953;0.876	T	0.68640	-0.5355	10	0.87932	D	0	-6.7713	14.697	0.69129	1.0:0.0:0.0:0.0	.	239;438	Q59GB2;O15355	.;PPM1G_HUMAN	N	438;438;421;239	ENSP00000342778:I438N;ENSP00000264714:I438N	ENSP00000342778:I438N	I	-	2	0	PPM1G	27458865	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.072000	0.93986	2.155000	0.67459	0.533000	0.62120	ATT	PPM1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000215032.1		-	ENST00000344034.4	Missense_Mutation	SNP	2 : 27605361 - 27605361 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	941	251
DNAH7	56171	broad.mit.edu	37	2	196746672	196746672	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:196746672A>G	ENST00000312428.6	-	36	5908	c.5808T>C	c.(5806-5808)gcT>gcC	p.A1936A		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1936					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAATTGGAGGAGCTTCTTTCA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	111	114			NA	NA	2		NA											NA				196746672		1829	4077	5906	SO:0001819	synonymous_variant			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997	56171	56171		Axonemal dyneins, EF-hand domain containing	18661	protein-coding gene	gene with protein product		610061	dynein, axonemal, heavy polypeptide 7		NA	9373155, 11877439	Standard	NM_018897	NM_018897	NA	Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.5808T>C	2.37:g.196746672A>G		NA	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	37	CCDS42794.1																																																																																			DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335202.3		-	ENST00000312428.6	Silent	SNP	2 : 196746672 - 196746672 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	309	44
POM121	9883	broad.mit.edu	37	7	72413455	72413455	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72413455G>A	ENST00000395270.1	+	14	3169	c.2128G>A	c.(2128-2130)Gct>Act	p.A710T	POM121_ENST00000434423.2_Missense_Mutation_p.A975T|POM121_ENST00000257622.4_Missense_Mutation_p.A710T|POM121_ENST00000358357.3_Missense_Mutation_p.A710T|POM121_ENST00000446813.1_Missense_Mutation_p.A710T	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	975	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ATTTGGGGCCGCTGAGGGGCA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	24	21			NA	NA	7		NA											NA				72413455		2153	4247	6400	SO:0001583	missense			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313	9883	9883		-	19702	protein-coding gene	gene with protein product		615753	POM121 membrane glycoprotein (rat), POM121 membrane glycoprotein		NA	8335683, 9734811, 17900573	Standard		NM_172020	NA	Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000395270.1:c.2128G>A	7.37:g.72413455G>A	ENSP00000378687:p.Ala710Thr	NA	A6NFS9|A8CDT4|A8K933|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	37	CCDS59059.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.292911	0.00245	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.05855	3.38;3.39;3.38;3.39;3.65	2.33	-1.67	0.08238	.	0.482456	0.15496	N	0.259272	T	0.01976	0.0062	N	0.03050	-0.425	0.09310	N	1	B;B	0.23650	0.089;0.041	B;B	0.16722	0.016;0.008	T	0.48068	-0.9067	10	0.10111	T	0.7	.	6.8782	0.24158	0.3294:0.0:0.6706:0.0	.	710;975	A8MXF9;Q96HA1	.;P121A_HUMAN	T	710;710;710;710;975	ENSP00000393020:A710T;ENSP00000257622:A710T;ENSP00000378687:A710T;ENSP00000351124:A710T;ENSP00000405562:A975T	ENSP00000257622:A710T	A	+	1	0	POM121	72051391	0.000000	0.05858	0.129000	0.21949	0.087000	0.18053	-0.483000	0.06536	-0.190000	0.10465	0.173000	0.16961	GCT	POM121-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252020.1		+	ENST00000395270.1	Missense_Mutation	SNP	7 : 72413455 - 72413455 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	751	115
RPTOR	57521	broad.mit.edu	37	17	78681708	78681708	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78681708G>A	ENST00000306801.3	+	4	778	c.416G>A	c.(415-417)cGc>cAc	p.R139H	RPTOR_ENST00000537330.1_5'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.R139H|RPTOR_ENST00000570891.1_Missense_Mutation_p.R139H	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	139					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TCCTTACGTCGCAACGCCAAG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	60	63			NA	NA	17		NA											NA				78681708		2203	4300	6503	SO:0001583	missense				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564	57521	57521		WD repeat domain containing	30287	protein-coding gene	gene with protein product	regulatory associated protein of mTOR	607130			NA	10718198, 12150926	Standard	NM_020761	NM_001163034	NA	Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.416G>A	17.37:g.78681708G>A	ENSP00000307272:p.Arg139His	NA	B2RN36|Q8N4V9|Q8TB32|Q9P2P3	37	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570396	0.86542	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.53857	0.61;0.6	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000001	T	0.77896	0.4199	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77004	0.989;0.97	T	0.81344	-0.0975	10	0.54805	T	0.06	.	18.975	0.92731	0.0:0.0:1.0:0.0	.	139;139	F5H7J5;Q8N122	.;RPTOR_HUMAN	H	139	ENSP00000307272:R139H;ENSP00000442479:R139H	ENSP00000307272:R139H	R	+	2	0	RPTOR	76296303	1.000000	0.71417	0.151000	0.22473	0.528000	0.34623	9.713000	0.98740	2.485000	0.83878	0.655000	0.94253	CGC	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438125.1		+	ENST00000306801.3	Missense_Mutation	SNP	17 : 78681708 - 78681708 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	150	24
NEK8	284086	broad.mit.edu	37	17	27061014	27061014	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27061014T>C	ENST00000268766.6	+	2	95	c.61T>C	c.(61-63)Tgc>Cgc	p.C21R	NEK8_ENST00000593261.1_3'UTR|AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	21	Protein kinase.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TGTGCACCTGTGCCTGCGAAA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(6;19 293 14866 25253 49845)							NA				0													82	74	77			NA	NA	17		NA											NA				27061014		2203	4300	6503	SO:0001583	missense			AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602	284086	284086			13387	protein-coding gene	gene with protein product		609799	NIMA (never in mitosis gene a)- related kinase 8		NA	18199800	Standard		NM_178170	NA	Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.61T>C	17.37:g.27061014T>C	ENSP00000268766:p.Cys21Arg	NA	A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	37	CCDS32597.1	.	.	.	.	.	.	.	.	.	.	T	19.87	3.908107	0.72868	.	.	ENSG00000160602	ENST00000543014;ENST00000268766	T;T	0.25579	1.79;1.79	4.92	4.92	0.64577	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.51584	0.1683	M	0.80508	2.5	0.80722	D	1	D	0.67145	0.996	D	0.68621	0.959	T	0.58295	-0.7661	10	0.72032	D	0.01	.	13.7609	0.62966	0.0:0.0:0.0:1.0	.	21	Q86SG6	NEK8_HUMAN	R	21	ENSP00000465859:C21R;ENSP00000268766:C21R	ENSP00000268766:C21R	C	+	1	0	NEK8	24085141	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	7.766000	0.85320	1.840000	0.53500	0.260000	0.18958	TGC	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000446467.2		+	ENST00000268766.6	Missense_Mutation	SNP	17 : 27061014 - 27061014 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	152	31
IGF2BP3	10643	broad.mit.edu	37	7	23391064	23391064	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23391064C>T	ENST00000258729.3	-	6	899	c.543G>A	c.(541-543)agG>agA	p.R181R	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	181					anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GAGACCCCTGCCTTGAGGAGC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	54	54			NA	NA	7		NA											NA				23391064		2203	4300	6503	SO:0001819	synonymous_variant			AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231	10643	10643		RNA binding motif (RRM) containing	28868	protein-coding gene	gene with protein product	IGF II mRNA binding protein 3, cancer/testis antigen 98	608259			NA	9891060, 9178771	Standard	NM_006547	NM_006547	NA	Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.543G>A	7.37:g.23391064C>T		NA	A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	37	CCDS5382.1																																																																																			IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250243.2		-	ENST00000258729.3	Silent	SNP	7 : 23391064 - 23391064 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	52
NDUFB9	4715	broad.mit.edu	37	8	125580657	125580657	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:125580657C>T	ENST00000522532.1	+	0	1225				MTSS1_ENST00000431961.2_5'UTR|MTSS1_ENST00000378017.3_Missense_Mutation_p.R194Q|MTSS1_ENST00000325064.5_Missense_Mutation_p.R198Q|MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000524090.1_Missense_Mutation_p.R84Q|MTSS1_ENST00000518547.1_Missense_Mutation_p.R194Q			Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	NA					mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	GGTACAGAATCGGCCACGTTC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	89	94			NA	NA	8		NA											NA				125580657		2203	4300	6503	SO:0001624	3_prime_UTR_variant			AF044956	CCDS6352.1	8q24.13	2011-07-04	2002-08-29		ENSG00000147684	ENSG00000147684	4715	4715		LYR motif containing, Mitochondrial respiratory chain complex / Complex I	7704	protein-coding gene	gene with protein product	complex I B22 subunit	601445	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9 (22kD, B22)		NA	8661098	Standard	NM_005005	NM_005005	NA	Approved	B22, UQOR22, LYRM3	uc003yrg.4	Q9Y6M9	OTTHUMG00000165054	ENST00000522532.1:c.*512C>T	8.37:g.125580657C>T		NA	B2R8M6|Q9UQE8	37		.	.	.	.	.	.	.	.	.	.	C	34	5.382456	0.95967	.	.	ENSG00000170873	ENST00000378017;ENST00000518547;ENST00000325064;ENST00000524090	T;T;T;T	0.58652	0.67;0.75;0.73;0.32	5.55	5.55	0.83447	IRSp53/MIM homology domain (IMD) (3);	0.061993	0.64402	D	0.000004	T	0.75280	0.3828	M	0.62088	1.915	0.80722	D	1	D;D;D;D	0.89917	0.982;1.0;1.0;1.0	P;D;D;D	0.97110	0.697;1.0;0.998;0.999	T	0.74544	-0.3630	10	0.52906	T	0.07	-14.0004	19.861	0.96785	0.0:1.0:0.0:0.0	.	84;194;194;194	E7EWW5;A5YM41;O43312;O43312-4	.;.;MTSS1_HUMAN;.	Q	194;194;198;84	ENSP00000367256:R194Q;ENSP00000429064:R194Q;ENSP00000322804:R198Q;ENSP00000428319:R84Q	ENSP00000322804:R198Q	R	-	2	0	MTSS1	125649838	1.000000	0.71417	0.931000	0.37212	0.737000	0.42083	7.689000	0.84165	2.767000	0.95098	0.655000	0.94253	CGA	NDUFB9-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000381608.1		+	ENST00000522532.1	3'UTR	SNP	8 : 125580657 - 125580657 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	332	52
PODXL	5420	broad.mit.edu	37	7	131189241	131189241	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131189241T>C	ENST00000378555.3	-	9	1753	c.1506A>G	c.(1504-1506)acA>acG	p.T502T	PODXL_ENST00000541194.1_Silent_p.T504T|PODXL_ENST00000322985.9_Silent_p.T470T|PODXL_ENST00000537928.1_Silent_p.T470T			O00592	PODXL_HUMAN	podocalyxin-like	502					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CATTCTCCACTGTCTGCAGCT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	139	146			NA	NA	7		NA											NA				131189241		2203	4300	6503	SO:0001819	synonymous_variant				CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567	5420	5420			9171	protein-coding gene	gene with protein product		602632			NA		Standard	NM_001018111	NM_001018111	NA	Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.1506A>G	7.37:g.131189241T>C		NA	A6NHX8|Q52LZ7|Q53ER6	37	CCDS34755.1																																																																																			PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337627.2		-	ENST00000378555.3	Silent	SNP	7 : 131189241 - 131189241 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	561	87
ZNF800	168850	broad.mit.edu	37	7	127014200	127014200	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127014200G>T	ENST00000393313.1	-	5	1781	c.1190C>A	c.(1189-1191)cCt>cAt	p.P397H	ZNF800_ENST00000393312.1_Missense_Mutation_p.P397H|ZNF800_ENST00000265827.3_Missense_Mutation_p.P397H			Q2TB10	ZN800_HUMAN	zinc finger protein 800	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						AGTATTATTAGGGCCTTTTTC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	101	99			NA	NA	7		NA											NA				127014200		2203	4298	6501	SO:0001583	missense			AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405	168850	168850		Zinc fingers, C2H2-type	27267	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_176814	NM_176814	NA	Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1190C>A	7.37:g.127014200G>T	ENSP00000376989:p.Pro397His	NA	Q9HBN0	37	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	G	9.709	1.156460	0.21454	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	T;T;T	0.14640	2.49;2.49;2.49	5.68	5.68	0.88126	.	0.134805	0.49305	D	0.000150	T	0.11110	0.0271	N	0.08118	0	0.30170	N	0.801362	D;D	0.56746	0.977;0.977	P;P	0.49561	0.615;0.615	T	0.31052	-0.9957	8	.	.	.	-3.818	14.3948	0.67003	0.0:0.1473:0.8527:0.0	.	300;397	B7Z4V7;Q2TB10	.;ZN800_HUMAN	H	397	ENSP00000376989:P397H;ENSP00000265827:P397H;ENSP00000376988:P397H	.	P	-	2	0	ZNF800	126801436	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.676000	0.46883	2.685000	0.91497	0.650000	0.86243	CCT	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000141823.1		-	ENST00000393313.1	Missense_Mutation	SNP	7 : 127014200 - 127014200 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	699	103
IVNS1ABP	10625	broad.mit.edu	37	1	185278210	185278210	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:185278210C>T	ENST00000367498.3	-	4	828	c.206G>A	c.(205-207)gGa>gAa	p.G69E	IVNS1ABP_ENST00000367497.1_Missense_Mutation_p.G69E|IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	69	BTB.				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						GTGAGAAATTCCATGAGGATC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	55	54			NA	NA	1		NA											NA				185278210		2203	4300	6503	SO:0001583	missense			AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679	10625	10625		Kelch-like, BTB/POZ domain containing	16951	protein-coding gene	gene with protein product	kelch-like family member 39	609209			NA	9696811, 10048485	Standard	NM_006469	NM_006469	NA	Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.206G>A	1.37:g.185278210C>T	ENSP00000356468:p.Gly69Glu	NA	A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	37	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830580	0.91036	.	.	ENSG00000116679	ENST00000367498;ENST00000367497	T;T	0.66460	-0.21;-0.21	5.67	5.67	0.87782	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.144833	0.64402	D	0.000007	T	0.73666	0.3616	N	0.25332	0.735	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.71774	-0.4491	10	0.35671	T	0.21	.	19.774	0.96385	0.0:1.0:0.0:0.0	.	69	Q9Y6Y0	NS1BP_HUMAN	E	69	ENSP00000356468:G69E;ENSP00000356467:G69E	ENSP00000356467:G69E	G	-	2	0	IVNS1ABP	183544833	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.711000	0.84669	2.679000	0.91253	0.591000	0.81541	GGA	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085774.1		-	ENST00000367498.3	Missense_Mutation	SNP	1 : 185278210 - 185278210 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	307	76
SGCE	8910	broad.mit.edu	37	7	94257604	94257604	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94257604C>T	ENST00000415788.2	-	4	495	c.408G>A	c.(406-408)tgG>tgA	p.W136*	SGCE_ENST00000265735.7_Nonsense_Mutation_p.W100*|SGCE_ENST00000428696.2_Nonsense_Mutation_p.W100*|SGCE_ENST00000447873.1_Nonsense_Mutation_p.W100*|SGCE_ENST00000445866.2_Nonsense_Mutation_p.W100*|SGCE_ENST00000437425.2_Nonsense_Mutation_p.W59*			O43556	SGCE_HUMAN	sarcoglycan, epsilon	100					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TATATCGAAGCCATCCAGGTC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM061979	SGCE	M							92	84	87			NA	NA	7		NA											NA				94257604		2203	4299	6502	SO:0001587	stop_gained			AF036364	CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1	7q21.3	2014-09-17			ENSG00000127990	ENSG00000127990	8910	8910			10808	protein-coding gene	gene with protein product		604149		DYT11	NA	9475163, 9405466	Standard		NM_001099401	NA	Approved		uc003unn.2	O43556	OTTHUMG00000022828	ENST00000415788.2:c.408G>A	7.37:g.94257604C>T	ENSP00000405313:p.Trp136*	NA	B2R8N2|D6W5Q8|Q75MH8|Q8NFG8|Q8WW28	37		.	.	.	.	.	.	.	.	.	.	C	35	5.419078	0.96092	.	.	ENSG00000127990	ENST00000265735;ENST00000445866;ENST00000437425;ENST00000447873;ENST00000428696;ENST00000415788	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.8144	19.7702	0.96361	0.0:1.0:0.0:0.0	.	.	.	.	X	100;100;59;100;100;136	.	ENSP00000265735:W100X	W	-	3	0	SGCE	94095540	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.351000	0.79395	2.749000	0.94314	0.650000	0.86243	TGG	SGCE-008	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000340761.2		-	ENST00000415788.2	Nonsense_Mutation	SNP	7 : 94257604 - 94257604 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	186	39
ZNF28	7576	broad.mit.edu	37	19	53304313	53304313	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53304313C>T	ENST00000438150.2	-	2	1519	c.626G>A	c.(625-627)cGt>cAt	p.R209H	ZNF28_ENST00000457749.2_Missense_Mutation_p.R262H|ZNF28_ENST00000360272.4_Missense_Mutation_p.R209H|ZNF28_ENST00000414252.2_Missense_Mutation_p.R209H			P17035	ZNF28_HUMAN	zinc finger protein 28	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GTGAGATCTACGATGGCATGC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	135	143			NA	NA	19		NA											NA				53304313		2203	4300	6503	SO:0001583	missense			X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538	7576	7576		Zinc fingers, C2H2-type, -	13073	protein-coding gene	gene with protein product			zinc finger protein 28 (KOX 24)		NA		Standard	NM_006969	NR_036599	NA	Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000438150.2:c.626G>A	19.37:g.53304313C>T	ENSP00000412143:p.Arg209His	NA	A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	37		.	.	.	.	.	.	.	.	.	.	-	7.070	0.568038	0.13560	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.18502	2.42;2.42;2.42;2.42;2.21	1.37	-2.74	0.05932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12433	0.0302	L	0.43554	1.36	0.09310	N	0.999997	B	0.11235	0.004	B	0.06405	0.002	T	0.27123	-1.0083	9	0.44086	T	0.13	.	5.9021	0.18972	0.0:0.2984:0.0:0.7016	.	262	P17035	ZNF28_HUMAN	H	209;262;209;209;209	ENSP00000412143:R209H;ENSP00000397693:R262H;ENSP00000353410:R209H;ENSP00000444965:R209H;ENSP00000375661:R209H	ENSP00000353410:R209H	R	-	2	0	ZNF28	57996125	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.473000	0.06615	-0.965000	0.03591	-0.708000	0.03648	CGT	ZNF28-004	PUTATIVE	alternative_5_UTR|basic	protein_coding	NA	protein_coding	OTTHUMT00000396147.2		-	ENST00000438150.2	Missense_Mutation	SNP	19 : 53304313 - 53304313 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	575	103
KIAA1407	57577	broad.mit.edu	37	3	113697720	113697720	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113697720G>A	ENST00000295878.3	-	15	2591	c.2445C>T	c.(2443-2445)atC>atT	p.I815I	KIAA1407_ENST00000545063.1_3'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	815										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GCCAGCTCTGGATGACTCTCT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													196	193	194			NA	NA	3		NA											NA				113697720		2203	4300	6503	SO:0001819	synonymous_variant			AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617	57577	57577			29272	protein-coding gene	gene with protein product					NA	10718198	Standard	NM_020817	NM_020817	NA	Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.2445C>T	3.37:g.113697720G>A		NA	Q9P2E0	37	CCDS2977.1																																																																																			KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354724.2		-	ENST00000295878.3	Silent	SNP	3 : 113697720 - 113697720 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1022	199
U2SURP	23350	broad.mit.edu	37	3	142739482	142739482	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142739482G>A	ENST00000473835.2	+	8	770	c.680G>A	c.(679-681)aGa>aAa	p.R227K	U2SURP_ENST00000397933.2_5'UTR|U2SURP_ENST00000493598.2_Missense_Mutation_p.R227K	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	227					RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						ACAAAAGGCAGATTAAGTCGA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	117	120			NA	NA	3		NA											NA				142739482		1899	4122	6021	SO:0001583	missense			BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714	23350	23350		RNA binding motif (RRM) containing	30855	protein-coding gene	gene with protein product	functional spliceosome-associated protein a, Ser/Arg-rich domain protein, 140 kDa, U2 associated SR140 protein				NA	9205841, 12234937	Standard	NM_001080415	NM_001080415	NA	Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.680G>A	3.37:g.142739482G>A	ENSP00000418563:p.Arg227Lys	NA	A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	37	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.431484	0.62844	.	.	ENSG00000163714	ENST00000473835;ENST00000319822;ENST00000493598	T;T	0.10288	2.89;2.89	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.11495	0.0280	L	0.43152	1.355	0.80722	D	1	P;B;B	0.42649	0.786;0.39;0.27	B;B;B	0.40009	0.316;0.239;0.12	T	0.06570	-1.0819	10	0.06236	T	0.91	-15.294	19.8326	0.96642	0.0:0.0:1.0:0.0	.	227;227;227	B4DK81;O15042-2;O15042	.;.;SR140_HUMAN	K	227	ENSP00000418563:R227K;ENSP00000422011:R227K	ENSP00000322376:R227K	R	+	2	0	U2SURP	144222172	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.811000	0.91954	2.686000	0.91538	0.591000	0.81541	AGA	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354603.2		+	ENST00000473835.2	Missense_Mutation	SNP	3 : 142739482 - 142739482 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	134	15
KIAA0907	22889	broad.mit.edu	37	1	155899568	155899568	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155899568C>A	ENST00000368320.3	-	3	344	c.319G>T	c.(319-321)Gta>Tta	p.V107L	KIAA0907_ENST00000368319.3_Missense_Mutation_p.V107L|KIAA0907_ENST00000368321.3_Missense_Mutation_p.V107L|KIAA0907_ENST00000482337.1_5'UTR			Q7Z7F0	K0907_HUMAN	KIAA0907	107										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTAATTTCTACTTCAGCTACC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	146	152			NA	NA	1		NA											NA				155899568		2203	4300	6503	SO:0001583	missense			BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680	22889	22889			29145	protein-coding gene	gene with protein product					NA	10048485	Standard	NM_014949	NM_014949	NA	Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368320.3:c.319G>T	1.37:g.155899568C>A	ENSP00000357303:p.Val107Leu	NA	O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	37		.	.	.	.	.	.	.	.	.	.	C	33	5.266596	0.95399	.	.	ENSG00000132680	ENST00000368321;ENST00000368320;ENST00000368319	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.45696	0.1355	N	0.25485	0.75	0.80722	D	1	P;D;P;P;P;P	0.53151	0.851;0.958;0.851;0.936;0.736;0.736	P;P;B;P;B;B	0.54431	0.546;0.752;0.444;0.64;0.422;0.422	T	0.24333	-1.0163	9	0.12430	T	0.62	-11.2924	18.7817	0.91934	0.0:1.0:0.0:0.0	.	107;107;107;107;107;107	D3DVA4;Q7Z7F0-4;A8K1I7;Q7Z7F0-3;Q7Z7F0-2;Q7Z7F0	.;.;.;.;.;K0907_HUMAN	L	107	.	ENSP00000357302:V107L	V	-	1	0	KIAA0907	154166192	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.298000	0.78815	2.767000	0.95098	0.563000	0.77884	GTA	KIAA0907-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000039585.1		-	ENST00000368320.3	Missense_Mutation	SNP	1 : 155899568 - 155899568 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	60
CCDC112	153733	broad.mit.edu	37	5	114605433	114605433	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114605433T>G	ENST00000506442.1	-	8	1482				CCDC112_ENST00000512261.1_Missense_Mutation_p.Q382H|CCDC112_ENST00000395557.4_Missense_Mutation_p.Q382H|CCDC112_ENST00000379611.5_Missense_Mutation_p.Q465H			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	NA										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TTCTTTGTTTTTGTGACTTTT	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	167	171			NA	NA	5		NA											NA				114605433		2200	4295	6495	SO:0001627	intron_variant			BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221	153733	153733			28599	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152549	NM_001040440	NA	Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000506442.1:c.1084-736A>C	5.37:g.114605433T>G		NA	Q6A334	37		.	.	.	.	.	.	.	.	.	.	T	15.01	2.705875	0.48412	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000395557	T;T;T	0.18016	2.27;2.24;2.24	5.35	4.17	0.49024	.	0.314007	0.33180	N	0.005185	T	0.09598	0.0236	N	0.08118	0	0.25575	N	0.98685	B;B	0.20052	0.041;0.005	B;B	0.14023	0.01;0.003	T	0.22103	-1.0226	10	0.72032	D	0.01	-8.6957	11.5301	0.50604	0.1346:0.0:0.0:0.8654	.	465;382	Q8NEF3-2;Q8NEF3	.;CC112_HUMAN	H	465;382;382	ENSP00000368931:Q465H;ENSP00000423712:Q382H;ENSP00000378925:Q382H	ENSP00000368931:Q465H	Q	-	3	2	CCDC112	114633332	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.247000	0.32815	0.938000	0.37419	0.528000	0.53228	CAA	CCDC112-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000371000.1		-	ENST00000506442.1	Intron	SNP	5 : 114605433 - 114605433 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	73	14
KIAA1524	57650	broad.mit.edu	37	3	108308205	108308205	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108308205G>T	ENST00000295746.8	-	1	94	c.18C>A	c.(16-18)tgC>tgA	p.C6*	KIAA1524_ENST00000487834.1_5'UTR	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	6						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGGACTTCAAGCAGGCAGTGG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	37	40			NA	NA	3		NA											NA				108308205		2203	4300	6503	SO:0001587	stop_gained			AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507	57650	57650			29302	protein-coding gene	gene with protein product	cancerous inhibitor of protein phosphatase 2A	610643			NA	10819331, 24214971	Standard	NM_020890	NM_020890	NA	Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.18C>A	3.37:g.108308205G>T	ENSP00000295746:p.Cys6*	NA	A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	37	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202310	0.79127	.	.	ENSG00000163507	ENST00000295746	.	.	.	5.14	3.34	0.38264	.	0.161155	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.8924	9.5041	0.39035	0.2272:0.0:0.7728:0.0	.	.	.	.	X	6	.	ENSP00000295746:C6X	C	-	3	2	KIAA1524	109790895	0.956000	0.32656	1.000000	0.80357	0.359000	0.29487	0.586000	0.23894	1.531000	0.49152	0.655000	0.94253	TGC	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353975.2		-	ENST00000295746.8	Nonsense_Mutation	SNP	3 : 108308205 - 108308205 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	132	29
OPCML	4978	broad.mit.edu	37	11	132812857	132812857	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:132812857T>C	ENST00000331898.7	-	1	709	c.131A>G	c.(130-132)aAc>aGc	p.N44S	OPCML_ENST00000541867.1_Missense_Mutation_p.N44S|OPCML_ENST00000374778.4_Missense_Mutation_p.N3S|OPCML_ENST00000529038.1_Intron|OPCML_ENST00000524381.1_Missense_Mutation_p.N37S	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	44	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GACCGTCACGTTGTCCATAGC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	68	66			NA	NA	11		NA											NA				132812857		2201	4295	6496	SO:0001583	missense			BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715	4978	4978		Immunoglobulin superfamily / I-set domain containing	8143	protein-coding gene	gene with protein product	IgLON family member 1	600632	opioid-binding protein/cell adhesion molecule-like		NA	8244387	Standard	NM_001012393	XM_005271578	NA	Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.131A>G	11.37:g.132812857T>C	ENSP00000330862:p.Asn44Ser	NA	Q17RN7	37	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	T	19.76	3.887404	0.72410	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	5.6	5.6	0.85130	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.134612	0.47852	D	0.000218	T	0.37785	0.1016	L	0.54863	1.705	0.50632	D	0.999888	P;B;B;P	0.35656	0.514;0.267;0.267;0.502	P;P;P;P	0.46275	0.491;0.491;0.491;0.51	T	0.12682	-1.0538	10	0.49607	T	0.09	-20.4728	15.7888	0.78332	0.0:0.0:0.0:1.0	.	44;37;44;44	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	S	44;37;3;37;44	ENSP00000330862:N44S;ENSP00000434750:N37S;ENSP00000363910:N3S;ENSP00000445496:N44S	ENSP00000330862:N44S	N	-	2	0	OPCML	132318067	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.606000	0.82863	2.140000	0.66376	0.533000	0.62120	AAC	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374689.3		-	ENST00000331898.7	Missense_Mutation	SNP	11 : 132812857 - 132812857 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	744	103
STIP1	10963	broad.mit.edu	37	11	63961682	63961682	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63961682G>A	ENST00000358794.5	+	3	935	c.382G>A	c.(382-384)Gct>Act	p.A128T	STIP1_ENST00000543847.1_Missense_Mutation_p.A81T|STIP1_ENST00000540501.1_3'UTR|STIP1_ENST00000538945.1_Intron|STIP1_ENST00000305218.4_Missense_Mutation_p.A81T	NM_001282652.1	NP_001269581.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	81					axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						AAAAGCAGCAGCTCTAGAGTT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	121	120			NA	NA	11		NA											NA				63961682		2201	4297	6498	SO:0001583	missense			BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439	10963	10963		Tetratricopeptide (TTC) repeat domain containing	11387	protein-coding gene	gene with protein product	Hsp70/Hsp90-organizing protein	605063	stress-induced-phosphoprotein 1		NA	1569099	Standard	NM_006819	NM_006819	NA	Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000358794.5:c.382G>A	11.37:g.63961682G>A	ENSP00000351646:p.Ala128Thr	NA	Q5TZU9	37		.	.	.	.	.	.	.	.	.	.	G	36	5.718011	0.96839	.	.	ENSG00000168439	ENST00000358794;ENST00000305218;ENST00000543847	T;T;T	0.68025	1.98;1.98;-0.3	5.57	5.57	0.84162	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.84955	0.5587	M	0.88377	2.95	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.974	D	0.85372	0.1114	10	0.45353	T	0.12	-15.1911	18.7171	0.91679	0.0:0.0:1.0:0.0	.	81;81	P31948;F5H783	STIP1_HUMAN;.	T	128;81;81	ENSP00000351646:A128T;ENSP00000305958:A81T;ENSP00000442704:A81T	ENSP00000305958:A81T	A	+	1	0	STIP1	63718258	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.139000	0.94554	2.788000	0.95919	0.650000	0.86243	GCT	STIP1-010	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000396930.1		+	ENST00000358794.5	Missense_Mutation	SNP	11 : 63961682 - 63961682 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	799	148
POLR3E	55718	broad.mit.edu	37	16	22324989	22324989	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22324989G>A	ENST00000299853.5	+	7	580	c.413G>A	c.(412-414)aGc>aAc	p.S138N	POLR3E_ENST00000359210.4_Missense_Mutation_p.S138N|POLR3E_ENST00000418581.2_Missense_Mutation_p.S102N|POLR3E_ENST00000564209.1_Missense_Mutation_p.S138N	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	138					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		CTGCGGCCCAGCTTCTCCTAC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	51	51			NA	NA	16		NA											NA				22324989		2197	4300	6497	SO:0001583	missense			AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600	55718	55718		RNA polymerase subunits	30347	protein-coding gene	gene with protein product					NA	10819331, 10521666	Standard	NM_018119	NM_018119	NA	Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.413G>A	16.37:g.22324989G>A	ENSP00000299853:p.Ser138Asn	NA	Q9BWF7|Q9H8W8|Q9H907|Q9P276	37	CCDS10605.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337964	0.81911	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.52295	0.67;0.67;0.67	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.55449	0.1921	M	0.72353	2.195	0.80722	D	1	B;B;B;B;B;B	0.28400	0.116;0.009;0.116;0.075;0.116;0.21	B;B;B;B;B;B	0.35278	0.199;0.036;0.129;0.05;0.129;0.125	T	0.58730	-0.7585	10	0.87932	D	0	-18.61	18.0983	0.89498	0.0:0.0:1.0:0.0	.	82;102;138;138;138;138	B4DDR0;B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;.;RPC5_HUMAN;.	N	138;138;102	ENSP00000299853:S138N;ENSP00000352140:S138N;ENSP00000399254:S102N	ENSP00000299853:S138N	S	+	2	0	POLR3E	22232490	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.110000	0.94302	2.563000	0.86464	0.561000	0.74099	AGC	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000211590.1		+	ENST00000299853.5	Missense_Mutation	SNP	16 : 22324989 - 22324989 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	382	78
KCNJ5	3762	broad.mit.edu	37	11	128786590	128786590	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128786590G>A	ENST00000338350.4	+	4	1576	c.1224G>A	c.(1222-1224)ggG>ggA	p.G408G	KCNJ5_ENST00000529694.1_Silent_p.G408G|KCNJ5_ENST00000533599.1_Silent_p.G408G			P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	408					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	AGCCCAAGGGGCTGGGTGGGT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)							NA				0													12	14	13			NA	NA	11		NA											NA				128786590		2191	4266	6457	SO:0001819	synonymous_variant			D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457	3762	3762		Potassium channels, Voltage-gated ion channels / Potassium channels, Inwardly rectifying	6266	protein-coding gene	gene with protein product		600734			NA	16382105	Standard	NM_000890	NM_000890	NA	Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.1224G>A	11.37:g.128786590G>A		NA	B2R744|Q6DK13|Q6DK14|Q92807	37	CCDS8479.1																																																																																			KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386239.1		+	ENST00000338350.4	Silent	SNP	11 : 128786590 - 128786590 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	178	33
MEI1	150365	broad.mit.edu	37	22	42128519	42128519	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42128519G>T	ENST00000401548.3	+	11	1283	c.1243G>T	c.(1243-1245)Gat>Tat	p.D415Y	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000540833.1_Missense_Mutation_p.D155Y	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	415							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CATGTGCAGAGATGCTGGCCG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	73	72			NA	NA	22		NA											NA				42128519		2106	4238	6344	SO:0001583	missense			AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077	150365	150365			28613	protein-coding gene	gene with protein product	spermatogenesis associated 38	608797			NA	16683055	Standard	NM_152513	XM_006724154	NA	Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.1243G>T	22.37:g.42128519G>T	ENSP00000384115:p.Asp415Tyr	NA	B7Z745|Q1XAP1|Q1XAP2|Q8IYJ5|Q8N5K5|Q8N9H3|Q8TC68	37	CCDS46718.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.460093	0.63401	.	.	ENSG00000167077	ENST00000401548;ENST00000540833	T;T	0.47528	1.83;0.84	5.74	4.71	0.59529	Armadillo-like helical (1);Armadillo-type fold (1);	0.576504	0.18549	N	0.137954	T	0.56645	0.1999	L	0.56769	1.78	0.80722	D	1	P;D	0.60575	0.955;0.988	P;P	0.58873	0.66;0.847	T	0.58317	-0.7657	10	0.66056	D	0.02	-6.4029	7.1383	0.25541	0.1467:0.0:0.7135:0.1399	.	415;415	Q5TIA1;Q5TIA1-4	MEI1_HUMAN;.	Y	415;155	ENSP00000384115:D415Y;ENSP00000444225:D155Y	ENSP00000384115:D415Y	D	+	1	0	MEI1	40458465	1.000000	0.71417	0.944000	0.38274	0.970000	0.65996	2.702000	0.47102	1.410000	0.46936	0.563000	0.77884	GAT	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000074937.3		+	ENST00000401548.3	Missense_Mutation	SNP	22 : 42128519 - 42128519 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	290	48
CUL3	8452	broad.mit.edu	37	2	225362504	225362504	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:225362504T>C	ENST00000264414.4	-	12	2011	c.1673A>G	c.(1672-1674)gAt>gGt	p.D558G	CUL3_ENST00000409096.1_Missense_Mutation_p.D534G|CUL3_ENST00000409777.1_Missense_Mutation_p.D534G|CUL3_ENST00000344951.4_Missense_Mutation_p.D492G	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	558					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GGCATTGAGATCTGCAGAACC	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	140	143			NA	NA	2		NA											NA				225362504		2203	4300	6503	SO:0001583	missense			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257	8452	8452			2553	protein-coding gene	gene with protein product		603136			NA	8681378, 17192413	Standard		NM_003590	NA	Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.1673A>G	2.37:g.225362504T>C	ENSP00000264414:p.Asp558Gly	NA	A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	37	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	T	34	5.371427	0.95923	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	6.16	6.16	0.99307	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	D	0.89444	0.6717	M	0.94063	3.49	0.80722	D	1	D;D;D;D	0.71674	0.993;0.994;0.993;0.998	P;D;P;D	0.68353	0.888;0.932;0.888;0.957	D	0.91128	0.4935	10	0.51188	T	0.08	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	492;536;534;558	Q13618-3;Q53S54;Q13618-2;Q13618	.;.;.;CUL3_HUMAN	G	558;492;534;534	ENSP00000264414:D558G;ENSP00000343601:D492G;ENSP00000387200:D534G;ENSP00000386525:D534G	ENSP00000264414:D558G	D	-	2	0	CUL3	225070748	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.023000	0.88764	2.367000	0.80283	0.528000	0.53228	GAT	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256871.2		-	ENST00000264414.4	Missense_Mutation	SNP	2 : 225362504 - 225362504 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	376	96
CASP10	843	broad.mit.edu	37	2	202065193	202065193	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202065193G>T	ENST00000374650.3	+	6	868	c.712G>T	c.(712-714)Gga>Tga	p.G238*	CASP10_ENST00000448480.1_Intron|CASP10_ENST00000346817.5_Intron|CASP10_ENST00000286186.6_Intron|CASP10_ENST00000360132.3_Intron|CASP10_ENST00000272879.5_Intron|CASP10_ENST00000313728.7_Intron|CASP10_ENST00000492363.1_Intron			Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	238					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						TTTAAATGAAGGAGACCGTGG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	47	48			NA	NA	2		NA											NA				202065193		876	1991	2867	SO:0001587	stop_gained			U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	843	843	3.4.22.63	Caspases	1500	protein-coding gene	gene with protein product		601762	caspase 10, apoptosis-related cysteine protease		NA	8755496	Standard	NM_032977	NM_032974	NA	Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000374650.3:c.712G>T	2.37:g.202065193G>T	ENSP00000363781:p.Gly238*	NA	Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	37		.	.	.	.	.	.	.	.	.	.	G	10.51	1.371710	0.24857	.	.	ENSG00000003400	ENST00000374650	.	.	.	0.809	0.809	0.18725	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	4.9033	0.13786	0.0:0.0:1.0:0.0	.	.	.	.	X	238	.	ENSP00000363781:G238X	G	+	1	0	CASP10	201773438	0.008000	0.16893	0.004000	0.12327	0.138000	0.21146	0.764000	0.26532	0.718000	0.32166	0.313000	0.20887	GGA	CASP10-007	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000336846.1		+	ENST00000374650.3	Nonsense_Mutation	SNP	2 : 202065193 - 202065193 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	199	52
TNIP2	79155	broad.mit.edu	37	4	2747209	2747209	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2747209C>A	ENST00000510267.1	-	3	727	c.300G>T	c.(298-300)caG>caT	p.Q100H	TNIP2_ENST00000315423.7_Missense_Mutation_p.Q207H|TNIP2_ENST00000505186.1_5'UTR|TNIP2_ENST00000503235.1_Missense_Mutation_p.Q207H	NM_001161527.1	NP_001154999.1	Q8NFZ5	TNIP2_HUMAN	TNFAIP3 interacting protein 2	207						cytosol	protein binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GATTTTCTTCCTGCAACTTCT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	123	129			NA	NA	4		NA											NA				2747209		2203	4300	6503	SO:0001583	missense			BC002740	CCDS3362.1, CCDS54714.1, CCDS75093.1	4p16.3	2008-08-01			ENSG00000168884	ENSG00000168884	79155	79155			19118	protein-coding gene	gene with protein product		610669			NA	11390377, 12933576	Standard	NM_024309	NM_024309	NA	Approved	ABIN-2, MGC4289, KLIP, FLIP1	uc003gfg.2	Q8NFZ5	OTTHUMG00000090267	ENST00000510267.1:c.300G>T	4.37:g.2747209C>A	ENSP00000427613:p.Gln100His	NA	B1AKS4|B3KTY8|D3DVQ9|Q7L5L2|Q9BQR6|Q9H682	37	CCDS54714.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927050	0.34002	.	.	ENSG00000168884	ENST00000510267;ENST00000315423;ENST00000503235	T;T;T	0.57752	0.4;0.38;0.93	5.07	3.3	0.37823	.	0.519194	0.20701	N	0.087269	T	0.64627	0.2615	M	0.68593	2.085	0.31082	N	0.7118	D;P	0.76494	0.999;0.8	D;B	0.69654	0.965;0.259	T	0.65697	-0.6105	10	0.72032	D	0.01	-11.7897	6.4389	0.21839	0.0:0.6687:0.1531:0.1782	.	207;207	D6RGJ2;Q8NFZ5	.;TNIP2_HUMAN	H	100;207;207	ENSP00000427613:Q100H;ENSP00000321203:Q207H;ENSP00000426314:Q207H	ENSP00000321203:Q207H	Q	-	3	2	TNIP2	2717007	1.000000	0.71417	0.176000	0.23000	0.011000	0.07611	3.557000	0.53741	0.511000	0.28236	0.650000	0.86243	CAG	TNIP2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362368.1		-	ENST00000510267.1	Missense_Mutation	SNP	4 : 2747209 - 2747209 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	182	30
PTPN14	5784	broad.mit.edu	37	1	214557227	214557227	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214557227C>T	ENST00000366956.5	-	13	2165	c.1971G>A	c.(1969-1971)acG>acA	p.T657T	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	657					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GCGACTTGAGCGTCATGGCCT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(92;557 1424 24372 34121 40073)							NA				0													51	45	47			NA	NA	1		NA											NA				214557227		2203	4300	6503	SO:0001819	synonymous_variant			X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104	5784	5784		Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor	9647	protein-coding gene	gene with protein product		603155			NA	7733990	Standard	NM_005401	NM_005401	NA	Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.1971G>A	1.37:g.214557227C>T		NA	Q5VSI0	37	CCDS1514.1																																																																																			PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089918.2		-	ENST00000366956.5	Silent	SNP	1 : 214557227 - 214557227 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	286	43
BEND3	57673	broad.mit.edu	37	6	107390904	107390904	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107390904G>T	ENST00000369042.1	-	4	1681	c.1491C>A	c.(1489-1491)gaC>gaA	p.D497E	BEND3_ENST00000429433.2_Missense_Mutation_p.D497E			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	497										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						AGTCGTAGCAGTCATCACGCG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	29	29			NA	NA	6		NA											NA				107390904		2202	4298	6500	SO:0001583	missense			AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409	57673	57673		BEN domain containing	23040	protein-coding gene	gene with protein product			KIAA1553	KIAA1553	NA		Standard	NM_020913	NM_001080450	NA	Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.1491C>A	6.37:g.107390904G>T	ENSP00000358038:p.Asp497Glu	NA	A2RRH2|Q9HCL9	37	CCDS34507.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741071	0.30865	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	.	.	.	5.06	5.06	0.68205	.	0.052952	0.85682	D	0.000000	T	0.16981	0.0408	N	0.11560	0.145	0.38325	D	0.943639	B	0.23316	0.083	B	0.22386	0.039	T	0.07158	-1.0787	9	0.31617	T	0.26	-25.2658	9.3142	0.37924	0.1577:0.0:0.8423:0.0	.	497	Q5T5X7	BEND3_HUMAN	E	497	.	ENSP00000358038:D497E	D	-	3	2	BEND3	107497597	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	0.922000	0.28734	2.625000	0.88918	0.561000	0.74099	GAC	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041686.1		-	ENST00000369042.1	Missense_Mutation	SNP	6 : 107390904 - 107390904 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	328	51
MKI67	4288	broad.mit.edu	37	10	129905528	129905528	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129905528C>T	ENST00000368654.3	-	13	4951	c.4576G>A	c.(4576-4578)Gca>Aca	p.A1526T	MKI67_ENST00000368653.3_Missense_Mutation_p.A1166T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1526	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTCCTGAGTGCGAAGAATTCT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													337	301	313			NA	NA	10		NA											NA				129905528		2203	4300	6503	SO:0001583	missense			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773	4288	4288			7107	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 105	176741	antigen identified by monoclonal antibody Ki-67		NA	2571566, 16206250	Standard	NM_002417	NM_002417	NA	Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4576G>A	10.37:g.129905528C>T	ENSP00000357643:p.Ala1526Thr	NA	Q5VWH2	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.303393	0.23736	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02837	4.14;4.14	3.61	1.68	0.24146	.	1.738000	0.03536	N	0.223115	T	0.02649	0.0080	L	0.43152	1.355	0.09310	N	1	P;P;P	0.44478	0.614;0.803;0.836	B;B;B	0.32805	0.099;0.127;0.153	T	0.47699	-0.9097	10	0.12103	T	0.63	.	6.1017	0.20051	0.0:0.755:0.0:0.245	.	1525;1166;1526	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	T	1526;1166;1525	ENSP00000357643:A1526T;ENSP00000357642:A1166T	ENSP00000357642:A1166T	A	-	1	0	MKI67	129795518	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.129000	0.10515	0.322000	0.23283	0.462000	0.41574	GCA	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050999.1		-	ENST00000368654.3	Missense_Mutation	SNP	10 : 129905528 - 129905528 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1779	307
SNX7	51375	broad.mit.edu	37	1	99161105	99161105	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:99161105G>T	ENST00000306121.3	+	5	680	c.671G>T	c.(670-672)gGc>gTc	p.G224V	SNX7_ENST00000529992.1_Missense_Mutation_p.G169V|SNX7_ENST00000370189.5_Missense_Mutation_p.G160V	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	160					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		CAAGGTCCTGGCTTGCTAAGC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	68	65			NA	NA	1		NA											NA				99161105		2203	4300	6503	SO:0001583	missense			AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627	51375	51375		Sorting nexins	14971	protein-coding gene	gene with protein product		614904			NA		Standard		NM_015976	NA	Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.671G>T	1.37:g.99161105G>T	ENSP00000304429:p.Gly224Val	NA	A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	37	CCDS755.2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087998	0.76642	.	.	ENSG00000162627	ENST00000370189;ENST00000529992;ENST00000306121	T;T;T	0.38722	1.23;1.88;1.12	5.66	5.66	0.87406	.	0.340418	0.35013	N	0.003511	T	0.60209	0.2251	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.997	D;D;D	0.97110	1.0;0.981;0.974	T	0.60296	-0.7291	10	0.66056	D	0.02	-34.4901	20.1041	0.97884	0.0:0.0:1.0:0.0	.	169;224;160	E9PNL2;Q9UNH6-3;Q9UNH6-2	.;.;.	V	160;169;224	ENSP00000359208:G160V;ENSP00000434731:G169V;ENSP00000304429:G224V	ENSP00000304429:G224V	G	+	2	0	SNX7	98933693	1.000000	0.71417	0.917000	0.36280	0.399000	0.30720	9.778000	0.99011	2.826000	0.97356	0.655000	0.94253	GGC	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029609.2		+	ENST00000306121.3	Missense_Mutation	SNP	1 : 99161105 - 99161105 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	26
TNIP3	79931	broad.mit.edu	37	4	122078275	122078275	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122078275T>G	ENST00000057513.3	-	4	551	c.337A>C	c.(337-339)Acc>Ccc	p.T113P	TNIP3_ENST00000509841.1_Missense_Mutation_p.T190P|TNIP3_ENST00000507879.1_Missense_Mutation_p.T183P|TNIP3_ENST00000454328.1_Missense_Mutation_p.T113P	NM_024873.5	NP_079149.3	Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	113										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						CGGTCCCGGGTCAGGTCGCGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	134	128			NA	NA	4		NA											NA				122078275		2203	4300	6503	SO:0001583	missense			AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730	79931	79931			19315	protein-coding gene	gene with protein product		608019			NA	11345586	Standard	NM_024873	NM_024873	NA	Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000057513.3:c.337A>C	4.37:g.122078275T>G	ENSP00000057513:p.Thr113Pro	NA	A1A574|A8K2Z4|Q96PQ3|Q9H780	37	CCDS3718.1	.	.	.	.	.	.	.	.	.	.	T	14.98	2.698387	0.48307	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	3.79	-7.58	0.01313	.	2.342090	0.01568	N	0.020440	T	0.59390	0.2190	L	0.60455	1.87	0.09310	N	1	B;B;P	0.43094	0.001;0.002;0.799	B;B;P	0.44990	0.002;0.003;0.466	T	0.64343	-0.6430	10	0.72032	D	0.01	10.3068	7.1203	0.25440	0.0:0.3636:0.4254:0.211	.	183;113;113	B4DVF5;A5HU65;Q96KP6	.;.;TNIP3_HUMAN	P	113;113;183;190	ENSP00000057513:T113P;ENSP00000411817:T113P;ENSP00000427106:T183P;ENSP00000426613:T190P	ENSP00000057513:T113P	T	-	1	0	TNIP3	122297725	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.672000	0.05244	-1.505000	0.01807	0.397000	0.26171	ACC	TNIP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256527.2		-	ENST00000057513.3	Missense_Mutation	SNP	4 : 122078275 - 122078275 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1612	69
HUWE1	10075	broad.mit.edu	37	X	53631738	53631738	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53631738G>A	ENST00000342160.3	-	25	3011	c.2554C>T	c.(2554-2556)Ctc>Ttc	p.L852F	HUWE1_ENST00000262854.6_Missense_Mutation_p.L852F|HUWE1_ENST00000218328.8_Missense_Mutation_p.L852F			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	852					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGGGAGGAGAGGATGGAGTCC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	63	64			NA	NA	X		NA											NA				53631738		2203	4300	6503	SO:0001583	missense			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758	10075	10075			30892	protein-coding gene	gene with protein product		300697	HECT, UBA and WWE domain containing 1		NA	9205841, 10998601	Standard	XM_497119	NM_031407	NA	Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.2554C>T	X.37:g.53631738G>A	ENSP00000340648:p.Leu852Phe	NA	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267939	0.80469	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.54279	0.88;0.88;0.58	5.88	5.88	0.94601	.	0.197114	0.33534	N	0.004814	T	0.71239	0.3316	L	0.61218	1.895	0.51767	D	0.999938	D	0.89917	1.0	D	0.76071	0.987	T	0.72997	-0.4121	10	0.72032	D	0.01	.	17.8502	0.88744	0.0:0.0:1.0:0.0	.	852	Q7Z6Z7	HUWE1_HUMAN	F	852	ENSP00000340648:L852F;ENSP00000262854:L852F;ENSP00000218328:L852F	ENSP00000218328:L852F	L	-	1	0	HUWE1	53648463	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	4.910000	0.63321	2.489000	0.83994	0.600000	0.82982	CTC	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056766.1		-	ENST00000342160.3	Missense_Mutation	SNP	X : 53631738 - 53631738 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	249	7
DLC1	10395	broad.mit.edu	37	8	12957919	12957919	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12957919G>A	ENST00000276297.4	-	9	2336	c.1927C>T	c.(1927-1929)Ccc>Tcc	p.P643S	DLC1_ENST00000520226.1_Missense_Mutation_p.P132S|DLC1_ENST00000358919.2_Missense_Mutation_p.P206S|DLC1_ENST00000512044.2_Missense_Mutation_p.P240S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	643					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AGTTCCTTGGGAGAGGGCAGG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	87	89			NA	NA	8		NA											NA				12957919		2203	4300	6503	SO:0001583	missense			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741	10395	10395		Rho GTPase activating proteins, StAR-related lipid transfer (START) domain containing	2897	protein-coding gene	gene with protein product	StAR-related lipid transfer (START) domain containing 12	604258	deleted in liver cancer 1		NA	9605766, 11214970	Standard	NM_182643, NM_006094	NM_182643	NA	Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1927C>T	8.37:g.12957919G>A	ENSP00000276297:p.Pro643Ser	NA	O14868|O43199|Q7Z5R8|Q9C0E0|Q9H7A2	37	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.753415	0.69648	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.07567	3.48;3.28;3.27;3.18	4.89	4.89	0.63831	.	0.108634	0.64402	D	0.000005	T	0.26810	0.0656	L	0.56769	1.78	0.80722	D	1	D;B;D	0.71674	0.97;0.127;0.998	P;B;D	0.77557	0.664;0.041;0.99	T	0.00290	-1.1843	10	0.52906	T	0.07	.	18.6244	0.91332	0.0:0.0:1.0:0.0	.	643;240;206	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	S	643;206;240;132	ENSP00000276297:P643S;ENSP00000351797:P206S;ENSP00000422595:P240S;ENSP00000428028:P132S	ENSP00000276297:P643S	P	-	1	0	DLC1	13002290	1.000000	0.71417	0.982000	0.44146	0.997000	0.91878	7.657000	0.83745	2.699000	0.92147	0.655000	0.94253	CCC	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207632.2		-	ENST00000276297.4	Missense_Mutation	SNP	8 : 12957919 - 12957919 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	786	141
WDR4	10785	broad.mit.edu	37	21	44272427	44272427	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44272427G>A	ENST00000398208.2	-	10	1042	c.983C>T	c.(982-984)cCt>cTt	p.P328L	WDR4_ENST00000330317.2_Missense_Mutation_p.P328L|WDR4_ENST00000492742.1_5'UTR	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2	P57081	WDR4_HUMAN	WD repeat domain 4	328					tRNA modification	cytoplasm|nucleoplasm	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		GGTGCTCTCAGGAACAGACTG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	63	69			NA	NA	21		NA											NA				44272427		2203	4300	6503	SO:0001583	missense			AJ243912	CCDS13691.1	21q22.3	2013-01-09			ENSG00000160193	ENSG00000160193	10785	10785		WD repeat domain containing	12756	protein-coding gene	gene with protein product	TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae)	605924			NA	12403464	Standard		NM_018669	NA	Approved	TRM82, TRMT82	uc002zci.4	P57081	OTTHUMG00000086826	ENST00000398208.2:c.983C>T	21.37:g.44272427G>A	ENSP00000381266:p.Pro328Leu	NA	A8KA58|B2RCA3|B4DNQ7|D3DSK3|Q9BVM5|Q9HCR3	37	CCDS13691.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875627	0.33162	.	.	ENSG00000160193	ENST00000330317;ENST00000398208	T;T	0.60171	0.21;0.21	4.12	3.21	0.36854	.	0.441052	0.24054	N	0.041971	T	0.47432	0.1445	M	0.62723	1.935	0.20403	N	0.999908	B;B	0.33583	0.418;0.07	B;B	0.31101	0.124;0.014	T	0.30416	-0.9979	10	0.11485	T	0.65	-3.186	9.7814	0.40651	0.0:0.2104:0.7896:0.0	.	327;328	P57081-2;P57081	.;WDR4_HUMAN	L	328	ENSP00000328671:P328L;ENSP00000381266:P328L	ENSP00000328671:P328L	P	-	2	0	WDR4	43145496	0.782000	0.28689	0.264000	0.24511	0.026000	0.11368	1.200000	0.32247	1.048000	0.40298	0.655000	0.94253	CCT	WDR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195479.1		-	ENST00000398208.2	Missense_Mutation	SNP	21 : 44272427 - 44272427 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	152	37
CBFA2T2	9139	broad.mit.edu	37	20	32232319	32232319	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32232319C>G	ENST00000492345.1	+	13	2280	c.1595C>G	c.(1594-1596)cCt>cGt	p.P532R	CBFA2T2_ENST00000375279.2_Missense_Mutation_p.P561R|CBFA2T2_ENST00000543126.1_Missense_Mutation_p.P109R|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.P571R|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.P552R|CBFA2T2_ENST00000346541.3_Missense_Mutation_p.P561R|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.P532R			O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	561						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						CCGCTGCTTCCTGTAGGCAGG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(174;142 1955 14837 21276 28041)							NA				0													49	52	51			NA	NA	20		NA											NA				32232319		2203	4298	6501	SO:0001583	missense			AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699	9139	9139		Zinc fingers, MYND-type	1536	protein-coding gene	gene with protein product		603672			NA	9790752	Standard	NM_001032999	XM_006723886	NA	Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000492345.1:c.1595C>G	20.37:g.32232319C>G	ENSP00000433270:p.Pro532Arg	NA	B2RAE6|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	37		.	.	.	.	.	.	.	.	.	.	C	16.34	3.095074	0.56075	.	.	ENSG00000078699	ENST00000397803;ENST00000375279;ENST00000342704;ENST00000346541;ENST00000397800;ENST00000359606;ENST00000543126	T;T;T;T;T	0.46819	0.87;0.86;0.87;0.87;1.47	5.88	5.88	0.94601	.	0.105066	0.64402	D	0.000003	T	0.33059	0.0850	N	0.08118	0	0.58432	D	0.999995	P;P	0.48016	0.904;0.688	B;B	0.40534	0.243;0.332	T	0.23190	-1.0195	10	0.42905	T	0.14	0.0038	20.2422	0.98381	0.0:1.0:0.0:0.0	.	561;552	O43439;F8W6D7	MTG8R_HUMAN;.	R	335;561;552;561;532;571;109	ENSP00000364428:P561R;ENSP00000345810:P552R;ENSP00000262653:P561R;ENSP00000380902:P532R;ENSP00000352622:P571R	ENSP00000345810:P552R	P	+	2	0	CBFA2T2	31695980	0.981000	0.34729	1.000000	0.80357	0.698000	0.40448	5.354000	0.66040	2.782000	0.95742	0.655000	0.94253	CCT	CBFA2T2-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000078709.3		+	ENST00000492345.1	Missense_Mutation	SNP	20 : 32232319 - 32232319 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	576	116
GOLGB1	2804	broad.mit.edu	37	3	121410400	121410400	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121410400T>G	ENST00000393667.3	-	14	7921	c.7811A>C	c.(7810-7812)gAt>gCt	p.D2604A	GOLGB1_ENST00000340645.5_Missense_Mutation_p.D2599A	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2599					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTTAGATAAATCTTGTTTCTC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	81	80			NA	NA	3		NA											NA				121410400		2202	4300	6502	SO:0001583	missense			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230	2804	2804			4429	protein-coding gene	gene with protein product	macrogolgin, golgi integral membrane protein 1	602500	golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1, golgin B1, golgi integral membrane protein		NA	7691276, 15004235	Standard	NM_004487	NM_001256486	NA	Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000393667.3:c.7811A>C	3.37:g.121410400T>G	ENSP00000377275:p.Asp2604Ala	NA	D3DN92|Q14398	37	CCDS58847.1	.	.	.	.	.	.	.	.	.	.	T	0.592	-0.832790	0.02713	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.13657	2.57;2.57	5.25	-1.15	0.09709	.	0.970057	0.08526	N	0.932793	T	0.08044	0.0201	L	0.36672	1.1	0.09310	N	1	B;B;B	0.16396	0.01;0.017;0.01	B;B;B	0.16289	0.006;0.015;0.006	T	0.43798	-0.9369	10	0.13108	T	0.6	.	1.989	0.03442	0.1214:0.398:0.239:0.2416	.	2604;2604;2599	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	A	2599;2604	ENSP00000341848:D2599A;ENSP00000377275:D2604A	ENSP00000341848:D2599A	D	-	2	0	GOLGB1	122893090	0.000000	0.05858	0.562000	0.28370	0.588000	0.36517	0.043000	0.13971	0.061000	0.16311	-0.242000	0.12053	GAT	GOLGB1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355160.1		-	ENST00000393667.3	Missense_Mutation	SNP	3 : 121410400 - 121410400 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	430	82
RGS19	10287	broad.mit.edu	37	20	62705620	62705620	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62705620G>A	ENST00000395042.1	-	5	605	c.339C>T	c.(337-339)agC>agT	p.S113S	RGS19_ENST00000332298.5_Silent_p.S113S	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	113	RGS.				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TGTTCTCCTCGCTGTACTCTG	0.612		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	85	69	74		339,339	1.6	1	20		74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	RGS19	NM_001039467.1,NM_005873.2	,	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	,	113/218,113/218	62705620	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			X91809	CCDS13555.1	20q13.33	2007-08-14	2007-08-14		ENSG00000171700	ENSG00000171700	10287	10287		Regulators of G-protein signaling	13735	protein-coding gene	gene with protein product		605071	regulator of G-protein signalling 19		NA	8524874	Standard	NM_005873	XM_005260183	NA	Approved	GAIP, RGSGAIP	uc002yib.3	P49795	OTTHUMG00000033024	ENST00000395042.1:c.339C>T	20.37:g.62705620G>A		NA	A8K216|E1P5G9|Q53XN0|Q8TD60	37	CCDS13555.1																																																																																			RGS19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080273.1		-	ENST00000395042.1	Silent	SNP	20 : 62705620 - 62705620 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	269	9
ACSF2	80221	broad.mit.edu	37	17	48539874	48539874	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48539874G>T	ENST00000427954.2	+	7	838	c.795G>T	c.(793-795)caG>caT	p.Q265H	ACSF2_ENST00000504392.1_Missense_Mutation_p.Q197H|ACSF2_ENST00000502667.1_Missense_Mutation_p.Q227H|ACSF2_ENST00000541920.1_Missense_Mutation_p.Q80H|ACSF2_ENST00000300441.4_Missense_Mutation_p.Q240H			Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	240					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GCACACGGCAGCATCTGGACC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	75	80			NA	NA	17		NA											NA				48539874		2203	4300	6503	SO:0001583	missense			AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107	80221	80221		Acyl-CoA synthetase family	26101	protein-coding gene	gene with protein product		610465			NA	17762044	Standard	NM_025149	NM_001288968	NA	Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000427954.2:c.795G>T	17.37:g.48539874G>T	ENSP00000401831:p.Gln265His	NA	Q9H7G2	37		.	.	.	.	.	.	.	.	.	.	G	13.78	2.340395	0.41498	.	.	ENSG00000167107	ENST00000300441;ENST00000541920;ENST00000504392;ENST00000427954;ENST00000502667	T;T;T;T;T	0.39592	1.21;1.26;1.07;1.22;1.33	5.57	4.6	0.57074	AMP-dependent synthetase/ligase (1);	0.569399	0.18669	N	0.134492	T	0.58163	0.2103	L	0.50847	1.595	0.40560	D	0.981207	D;D;B;D	0.89917	1.0;1.0;0.074;0.999	D;D;B;D	0.77004	0.989;0.989;0.149;0.983	T	0.57894	-0.7732	10	0.44086	T	0.13	-21.777	14.4944	0.67674	0.0707:0.0:0.9293:0.0	.	227;265;197;240	B4DHT5;B4DFQ6;E9PF16;Q96CM8	.;.;.;ACSF2_HUMAN	H	240;80;197;265;227	ENSP00000300441:Q240H;ENSP00000437987:Q80H;ENSP00000425964:Q197H;ENSP00000401831:Q265H;ENSP00000421884:Q227H	ENSP00000300441:Q240H	Q	+	3	2	ACSF2	45894873	1.000000	0.71417	0.957000	0.39632	0.843000	0.47879	2.175000	0.42491	1.354000	0.45846	0.563000	0.77884	CAG	ACSF2-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000367424.1		+	ENST00000427954.2	Missense_Mutation	SNP	17 : 48539874 - 48539874 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	471	80
NELL2	4753	broad.mit.edu	37	12	45269691	45269691	+	Translation_Start_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:45269691A>C	ENST00000429094.2	-	0	466				NELL2_ENST00000548826.1_De_novo_Start_OutOfFrame|NELL2_ENST00000437801.2_Intron|NELL2_ENST00000551601.1_Intron|NELL2_ENST00000333837.4_Intron|NELL2_ENST00000549027.1_Intron|NELL2_ENST00000452445.2_Intron	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	NA					cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CCTCtttaaaaataaaaataa	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	39	36			NA	NA	12		NA											NA				45269691		2203	4300	6503					D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613	4753	4753			7751	protein-coding gene	gene with protein product		602320	nel (chicken)-like 2		NA	19249368	Standard	NM_006159	NM_006159	NA	Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.-39T>G	12.37:g.45269691A>C		NA		37	CCDS8746.1																																																																																			NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404180.1		-	ENST00000429094.2	De_novo_Start_OutOfFrame	SNP	12 : 45269691 - 45269691 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	335	68
OPRD1	4985	broad.mit.edu	37	1	29189517	29189517	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29189517G>A	ENST00000234961.2	+	3	1083	c.841G>A	c.(841-843)Gtc>Atc	p.V281I		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	281					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	CCACATCTTCGTCATCGTCTG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	26	27			NA	NA	1		NA											NA				29189517		2201	4298	6499	SO:0001583	missense			U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329	4985	4985		GPCR / Class A : Opioid receptors	8153	protein-coding gene	gene with protein product		165195			NA	8415697	Standard	NM_000911	NM_000911	NA	Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.841G>A	1.37:g.29189517G>A	ENSP00000234961:p.Val281Ile	NA	B5B0B8	37	CCDS329.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.176654	0.38413	.	.	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.36878	1.23	4.06	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.135819	0.49916	D	0.000139	T	0.21103	0.0508	N	0.12853	0.265	0.44018	D	0.996737	B	0.19935	0.04	B	0.20184	0.028	T	0.05937	-1.0855	10	0.20046	T	0.44	.	13.7884	0.63123	0.0:0.0:1.0:0.0	.	281	P41143	OPRD_HUMAN	I	281;233	ENSP00000234961:V281I	ENSP00000234961:V281I	V	+	1	0	OPRD1	29062104	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.926000	0.70070	2.097000	0.63578	0.462000	0.41574	GTC	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000010330.1		+	ENST00000234961.2	Missense_Mutation	SNP	1 : 29189517 - 29189517 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	104	26
INTS10	55174	broad.mit.edu	37	8	19682423	19682423	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19682423C>T	ENST00000397977.3	+	8	1344	c.946C>T	c.(946-948)Ctg>Ttg	p.L316L		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	316					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TTCCACCATGCTGGTCTTCTT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	93	96			NA	NA	8		NA											NA				19682423		1886	4104	5990	SO:0001819	synonymous_variant			AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613	55174	55174			25548	protein-coding gene	gene with protein product		611353	chromosome 8 open reading frame 35	C8orf35	NA	16239144	Standard	NM_018142	XM_005273558	NA	Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.946C>T	8.37:g.19682423C>T		NA	Q6IA93|Q7L538|Q7L8C8|Q9H3W8	37	CCDS6011.2																																																																																			INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253724.2		+	ENST00000397977.3	Silent	SNP	8 : 19682423 - 19682423 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	299	67
SLC52A2	79581	broad.mit.edu	37	8	145584484	145584484	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145584484C>A	ENST00000526752.1	+	2	263	c.152C>A	c.(151-153)tCt>tAt	p.S51Y	SLC52A2_ENST00000530047.1_Missense_Mutation_p.L383I|SLC52A2_ENST00000329994.2_Missense_Mutation_p.L383I|SLC52A2_ENST00000532887.1_Missense_Mutation_p.L383I|SLC52A2_ENST00000527078.1_Missense_Mutation_p.L383I|SLC52A2_ENST00000540505.1_Missense_Mutation_p.L295I|SLC52A2_ENST00000402965.1_Missense_Mutation_p.L383I			Q9HAB3	RFT3_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	52						integral to plasma membrane	receptor activity|riboflavin transporter activity				NA						GGTGCTGTGTCTTGGCGTGTT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	85	94			NA	NA	8		NA											NA				145584484		2203	4300	6503	SO:0001583	missense			AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803	79581	79581		Solute carriers	30224	protein-coding gene	gene with protein product		607882	G protein-coupled receptor 172A	GPR172A	NA	12740431	Standard	NM_024531	NM_024531	NA	Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000526752.1:c.152C>A	8.37:g.145584484C>A	ENSP00000433796:p.Ser51Tyr	NA	A8K6B6|D3DWL8|Q86UT1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.533|7.533	0.659103|0.659103	0.14645|0.14645	.|.	.|.	ENSG00000185803|ENSG00000185803	ENST00000530047;ENST00000527078;ENST00000402965;ENST00000532887;ENST00000329994;ENST00000540505|ENST00000526752	T;T;T;T;T;T|D	0.74315|0.90004	-0.83;-0.83;-0.83;-0.83;-0.83;-0.59|-2.6	5.25|5.25	0.202|0.202	0.15190|0.15190	.|.	0.667263|.	0.14238|.	N|.	0.332251|.	T|T	0.77785|0.77785	0.4182|0.4182	N|N	0.16567|0.16567	0.415|0.415	0.21290|0.21290	N|N	0.999731|0.999731	B|.	0.06786|.	0.001|.	B|.	0.10450|.	0.005|.	T|T	0.67868|0.67868	-0.5559|-0.5559	10|7	0.18710|0.87932	T|D	0.47|0	.|.	1.7425|1.7425	0.02955|0.02955	0.1258:0.4413:0.1607:0.2723|0.1258:0.4413:0.1607:0.2723	.|.	383|.	Q9HAB3|.	RFT3_HUMAN|.	I|Y	383;383;383;383;383;295|51	ENSP00000435820:L383I;ENSP00000434728:L383I;ENSP00000385961:L383I;ENSP00000436768:L383I;ENSP00000333638:L383I;ENSP00000440400:L295I|ENSP00000433796:S51Y	ENSP00000333638:L383I|ENSP00000433796:S51Y	L|S	+|+	1|2	0|0	GPR172A|GPR172A	145555292|145555292	0.027000|0.027000	0.19231|0.19231	0.021000|0.021000	0.16686|0.16686	0.916000|0.916000	0.54674|0.54674	0.373000|0.373000	0.20484|0.20484	-0.265000|-0.265000	0.09352|0.09352	0.456000|0.456000	0.33151|0.33151	CTT|TCT	SLC52A2-012	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000382410.1		+	ENST00000526752.1	Missense_Mutation	SNP	8 : 145584484 - 145584484 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	490	43
SLC6A1	6529	broad.mit.edu	37	3	11067953	11067953	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:11067953G>A	ENST00000287766.4	+	10	1407	c.986G>A	c.(985-987)tGc>tAc	p.C329Y	SLC6A1_ENST00000536032.1_Missense_Mutation_p.C151Y	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	329					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	ATCAATTCGTGCACCAGCATG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													195	168	177			NA	NA	3		NA											NA				11067953		2203	4300	6503	SO:0001583	missense				CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103	6529	6529		Solute carriers	11042	protein-coding gene	gene with protein product	GABA transporter 1	137165	solute carrier family 6 (neurotransmitter transporter, GABA), member 1		NA	8530094	Standard	NM_003042	NM_003042	NA	Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.986G>A	3.37:g.11067953G>A	ENSP00000287766:p.Cys329Tyr	NA	Q8N4K8	37	CCDS2603.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381368	0.61845	.	.	ENSG00000157103	ENST00000287766;ENST00000536032	T;T	0.74002	-0.8;-0.8	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000001	T	0.81856	0.4911	M	0.84948	2.725	0.47737	D	0.999504	P	0.45348	0.856	P	0.47470	0.548	D	0.84761	0.0762	10	0.72032	D	0.01	.	15.4803	0.75521	0.0:0.138:0.862:0.0	.	329	P30531	SC6A1_HUMAN	Y	329;151	ENSP00000287766:C329Y;ENSP00000445171:C151Y	ENSP00000287766:C329Y	C	+	2	0	SLC6A1	11042953	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	2.582000	0.46085	2.813000	0.96785	0.655000	0.94253	TGC	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000102767.2		+	ENST00000287766.4	Missense_Mutation	SNP	3 : 11067953 - 11067953 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	781	149
DLC1	10395	broad.mit.edu	37	8	12957822	12957822	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12957822T>C	ENST00000276297.4	-	9	2433	c.2024A>G	c.(2023-2025)aAg>aGg	p.K675R	DLC1_ENST00000520226.1_Missense_Mutation_p.K164R|DLC1_ENST00000358919.2_Missense_Mutation_p.K238R|DLC1_ENST00000512044.2_Missense_Mutation_p.K272R	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	675					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTCTTGAGCTTCAGGCTCTC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	110	114			NA	NA	8		NA											NA				12957822		2203	4300	6503	SO:0001583	missense			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741	10395	10395		Rho GTPase activating proteins, StAR-related lipid transfer (START) domain containing	2897	protein-coding gene	gene with protein product	StAR-related lipid transfer (START) domain containing 12	604258	deleted in liver cancer 1		NA	9605766, 11214970	Standard	NM_182643, NM_006094	NM_182643	NA	Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2024A>G	8.37:g.12957822T>C	ENSP00000276297:p.Lys675Arg	NA	O14868|O43199|Q7Z5R8|Q9C0E0|Q9H7A2	37	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	T	5.192	0.221034	0.09863	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.04156	3.89;3.69;3.69;3.74	4.84	4.84	0.62591	.	0.053786	0.64402	D	0.000001	T	0.02533	0.0077	N	0.04355	-0.22	0.80722	D	1	B;B;B	0.23540	0.087;0.004;0.025	B;B;B	0.20184	0.014;0.006;0.028	T	0.44190	-0.9344	10	0.07030	T	0.85	.	14.914	0.70781	0.0:0.0:0.0:1.0	.	675;272;238	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	R	675;238;272;164	ENSP00000276297:K675R;ENSP00000351797:K238R;ENSP00000422595:K272R;ENSP00000428028:K164R	ENSP00000276297:K675R	K	-	2	0	DLC1	13002193	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.344000	0.44010	2.168000	0.68352	0.533000	0.62120	AAG	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207632.2		-	ENST00000276297.4	Missense_Mutation	SNP	8 : 12957822 - 12957822 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	867	165
DNAJC9	23234	broad.mit.edu	37	10	75006444	75006444	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75006444A>G	ENST00000372950.4	-	2	1994		c.e2+1			NM_015190.3	NP_056005.1	Q8WXX5	DNJC9_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 9	NA					protein folding		heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(2)|stomach(1)	6	Prostate(51;0.0119)					AGAGTCCTTTACCTTTTTAAA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	69	66			NA	NA	10		NA											NA				75006444		2203	4300	6503	SO:0001630	splice_region_variant			AF327347	CCDS7322.1	10q22.3	2011-09-02			ENSG00000213551	ENSG00000213551	23234	23234		Heat shock proteins / DNAJ (HSP40)	19123	protein-coding gene	gene with protein product		611206			NA		Standard	NM_015190	NM_015190	NA	Approved	JDD1, SB73	uc001jtr.3	Q8WXX5	OTTHUMG00000018461	ENST00000372950.4:c.321+1T>C	10.37:g.75006444A>G		NA		37	CCDS7322.1	.	.	.	.	.	.	.	.	.	.	A	17.34	3.365007	0.61513	.	.	ENSG00000213551	ENST00000372950	.	.	.	5.19	4.02	0.46733	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5337	0.44992	0.8373:0.1627:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAJC9	74676450	1.000000	0.71417	0.776000	0.31678	0.748000	0.42578	9.278000	0.95766	0.877000	0.35895	0.482000	0.46254	.	DNAJC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048643.1	Intron	-	ENST00000372950.4	Splice_Site	SNP	10 : 75006444 - 75006444 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	474	95
PCYT1B	9468	broad.mit.edu	37	X	24625913	24625913	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:24625913C>T	ENST00000379145.1	-	3	273	c.229G>A	c.(229-231)Gcc>Acc	p.A77T	PCYT1B_ENST00000379144.2_Missense_Mutation_p.A95T|PCYT1B_ENST00000356768.4_Missense_Mutation_p.A95T	NM_001163264.1	NP_001156736.1	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	95	Catalytic (Potential).					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	TGCATAAGGGCTCTTGCATGA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	88	90			NA	NA	X		NA											NA				24625913		2203	4300	6503	SO:0001583	missense			AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	9468	9468	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	phosphate cytidylyltransferase 1, choline, beta isoform		NA	9593753	Standard	NM_004845	NM_004845	NA	Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270	ENST00000379145.1:c.229G>A	X.37:g.24625913C>T	ENSP00000368440:p.Ala77Thr	NA	A8IX00|B2RCX8|O60621|Q86XC9	37	CCDS55392.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763920	0.89932	.	.	ENSG00000102230	ENST00000379145;ENST00000379144;ENST00000356768	D;D;D	0.96554	-4.05;-4.05;-4.05	5.19	5.19	0.71726	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);Cytidyltransferase-related (1);	0.000000	0.85682	D	0.000000	D	0.95300	0.8475	L	0.56769	1.78	0.80722	D	1	D;P;P	0.53745	0.962;0.86;0.86	B;B;B	0.43701	0.333;0.346;0.428	D	0.95264	0.8371	10	0.48119	T	0.1	-34.0451	17.8268	0.88668	0.0:1.0:0.0:0.0	.	95;77;95	Q9Y5K3-2;E9PD84;Q9Y5K3	.;.;PCY1B_HUMAN	T	77;95;95	ENSP00000368440:A77T;ENSP00000368439:A95T;ENSP00000349211:A95T	ENSP00000349211:A95T	A	-	1	0	PCYT1B	24535834	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	7.320000	0.79064	2.398000	0.81561	0.544000	0.68410	GCC	PCYT1B-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056102.2		-	ENST00000379145.1	Missense_Mutation	SNP	X : 24625913 - 24625913 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	67	28
ZDBF2	57683	broad.mit.edu	37	2	207170780	207170780	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207170780C>T	ENST00000374423.3	+	5	1914	c.1528C>T	c.(1528-1530)Caa>Taa	p.Q510*		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	510							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TGACTACCCCCAACAATCTGT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	133	136			NA	NA	2		NA											NA				207170780		1909	4130	6039	SO:0001587	stop_gained			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186	57683	57683		Zinc fingers, DBF-type	29313	protein-coding gene	gene with protein product					NA	10997877	Standard	NM_020923	XM_005246711	NA	Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.1528C>T	2.37:g.207170780C>T	ENSP00000363545:p.Gln510*	NA	Q6ZNP7|Q6ZSN8	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	C	36	5.735202	0.96865	.	.	ENSG00000204186	ENST00000374423	.	.	.	4.06	-0.121	0.13535	.	1.033700	0.07765	N	0.950725	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	5.6918	0.17833	0.4899:0.4142:0.0:0.0959	.	.	.	.	X	510	.	ENSP00000363545:Q510X	Q	+	1	0	ZDBF2	206879025	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.100000	0.10990	-0.034000	0.13713	0.585000	0.79938	CAA	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336458.1		+	ENST00000374423.3	Nonsense_Mutation	SNP	2 : 207170780 - 207170780 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	314	44
ARHGEF12	23365	broad.mit.edu	37	11	120355208	120355208	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120355208A>C	ENST00000397843.2	+	40	4782	c.4616A>C	c.(4615-4617)aAg>aCg	p.K1539T	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.K1436T|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.K1520T	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1539					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CTCACAGACAAGCACTCAGGT	0.388		NA	T	MLL	AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0													80	74	76			NA	NA	11		NA											NA				120355208		1879	4112	5991	SO:0001583	missense			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914	23365	23365		Rho guanine nucleotide exchange factors	14193	protein-coding gene	gene with protein product		604763			NA	10681437, 9205841	Standard	NM_015313	NM_001198665	NA	Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.4616A>C	11.37:g.120355208A>C	ENSP00000380942:p.Lys1539Thr	NA	O15086|Q6P526	37	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	A	16.53	3.147910	0.57151	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.68765	-0.25;-0.35;-0.24	5.69	4.57	0.56435	.	0.142736	0.32328	N	0.006246	T	0.46795	0.1411	N	0.19112	0.55	0.27222	N	0.959639	P	0.35433	0.501	B	0.29785	0.107	T	0.35847	-0.9772	10	0.33940	T	0.23	-11.4479	10.0608	0.42273	0.9244:0.0:0.0756:0.0	.	1539	Q9NZN5	ARHGC_HUMAN	T	1539;1520;1436	ENSP00000380942:K1539T;ENSP00000349056:K1520T;ENSP00000432984:K1436T	ENSP00000349056:K1520T	K	+	2	0	ARHGEF12	119860418	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.355000	0.59424	0.993000	0.38866	0.533000	0.62120	AAG	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388052.1		+	ENST00000397843.2	Missense_Mutation	SNP	11 : 120355208 - 120355208 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	419	40
CDC34	997	broad.mit.edu	37	19	541501	541501	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:541501C>T	ENST00000215574.4	+	5	878	c.660C>T	c.(658-660)gcC>gcT	p.A220A		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	220	Asp/Glu-rich (acidic).|SCF-binding.				DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAGGAGGCCGACAGCTGCT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	50	53			NA	NA	19		NA											NA				541501		2203	4300	6503	SO:0001819	synonymous_variant			L22005	CCDS12030.1	19p13.3	2013-01-17	2013-01-17				997	997		Ubiquitin-conjugating enzymes E2	1734	protein-coding gene	gene with protein product		116948	cell division cycle 34, cell division cycle 34 homolog (S. cerevisiae)		NA	8248134, 16210246	Standard	NM_004359	NM_004359	NA	Approved	E2-CDC34, UBE2R1, UBC3	uc002lov.3	P49427		ENST00000215574.4:c.660C>T	19.37:g.541501C>T		NA	A8K689	37	CCDS12030.1																																																																																			CDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451889.2		+	ENST00000215574.4	Silent	SNP	19 : 541501 - 541501 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	303	12
SPHKAP	80309	broad.mit.edu	37	2	228881170	228881170	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228881170T>A	ENST00000392056.3	-	7	4446	c.4400A>T	c.(4399-4401)gAt>gTt	p.D1467V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.D1467V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1467						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTCACCACATCTGGGATGTT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	141	142			NA	NA	2		NA											NA				228881170		2203	4300	6503	SO:0001583	missense				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820	80309	80309		A-kinase anchor proteins	30619	protein-coding gene	gene with protein product	sphingosine kinase type 1-interacting protein	611646			NA	12080051, 11214970	Standard	NM_030623	NM_030623	NA	Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4400A>T	2.37:g.228881170T>A	ENSP00000375909:p.Asp1467Val	NA	Q68DA3|Q68DR8|Q9C0I5	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.502609	0.26949	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.13420	2.59;2.59	5.66	2.01	0.26516	.	0.779472	0.12553	N	0.458917	T	0.11665	0.0284	L	0.60455	1.87	0.21719	N	0.999572	B;P;B	0.47409	0.059;0.895;0.216	B;B;B	0.37943	0.013;0.261;0.049	T	0.20140	-1.0284	10	0.36615	T	0.2	.	5.2171	0.15348	0.0:0.1549:0.1519:0.6932	.	498;1467;1467	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	V	1467	ENSP00000375909:D1467V;ENSP00000339886:D1467V	ENSP00000339886:D1467V	D	-	2	0	SPHKAP	228589414	0.633000	0.27181	0.006000	0.13384	0.007000	0.05969	1.138000	0.31491	0.403000	0.25479	-1.209000	0.01634	GAT	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331750.1		-	ENST00000392056.3	Missense_Mutation	SNP	2 : 228881170 - 228881170 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	888	239
DNAH3	55567	broad.mit.edu	37	16	20966215	20966215	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20966215G>A	ENST00000261383.3	-	55	10990	c.10991C>T	c.(10990-10992)gCg>gTg	p.A3664V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3664	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCACATCACCGCCTTTGCACA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	125	127			NA	NA	16		NA											NA				20966215		2201	4300	6501	SO:0001583	missense			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486	55567	55567		Axonemal dyneins	2949	protein-coding gene	gene with protein product		603334	dynein, axonemal, heavy polypeptide 3		NA	9256245, 9373155	Standard	NM_017539	NM_017539	NA	Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10991C>T	16.37:g.20966215G>A	ENSP00000261383:p.Ala3664Val	NA	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	8.342	0.828909	0.16749	.	.	ENSG00000158486	ENST00000261383	T	0.08720	3.06	5.43	2.3	0.28687	Dynein heavy chain (1);	0.362903	0.27236	N	0.020283	T	0.02848	0.0085	N	0.02192	-0.645	0.09310	N	1	B	0.30439	0.279	B	0.27887	0.084	T	0.43925	-0.9361	10	0.30078	T	0.28	.	6.8303	0.23907	0.0693:0.1285:0.6688:0.1335	.	3664	Q8TD57	DYH3_HUMAN	V	3664	ENSP00000261383:A3664V	ENSP00000261383:A3664V	A	-	2	0	DNAH3	20873716	0.008000	0.16893	0.010000	0.14722	0.242000	0.25591	1.261000	0.32980	0.229000	0.21039	0.655000	0.94253	GCG	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207361.1		-	ENST00000261383.3	Missense_Mutation	SNP	16 : 20966215 - 20966215 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	797	179
IFNL2	282616	broad.mit.edu	37	19	39759474	39759474	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39759474C>A	ENST00000331982.5	+	2	223	c.168C>A	c.(166-168)gcC>gcA	p.A56A		NM_172138.1	NP_742150.1			interferon, lambda 2	NA											NA						AGCTGCAGGCCTTTAAGAGGG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	31	31			NA	NA	19		NA											NA				39759474		2203	4295	6498	SO:0001819	synonymous_variant			AY129148	CCDS42567.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000183709	ENSG00000183709	282616	282616		Interferons	18364	protein-coding gene	gene with protein product		607401	interleukin 28A, interleukin 28A (interferon, lambda 2)	IL28A	NA		Standard	NM_172138	NM_172138	NA	Approved	IL-28A	uc002oku.1	Q8IZJ0		ENST00000331982.5:c.168C>A	19.37:g.39759474C>A		NA		37	CCDS42567.1																																																																																			IFNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463833.1		+	ENST00000331982.5	Silent	SNP	19 : 39759474 - 39759474 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	60
C2orf43	60526	broad.mit.edu	37	2	20939749	20939749	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:20939749A>C	ENST00000237822.3	-	5	764	c.685T>G	c.(685-687)Tta>Gta	p.L229V	C2orf43_ENST00000541941.1_Missense_Mutation_p.L99V|C2orf43_ENST00000381090.3_Missense_Mutation_p.L229V|C2orf43_ENST00000435420.2_Missense_Mutation_p.L181V|C2orf43_ENST00000403006.2_Missense_Mutation_p.L99V|C2orf43_ENST00000440866.2_Intron	NM_001282721.1|NM_021925.2	NP_001269650.1|NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	229										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATGGTTCTAATATATTCAAT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	93	92			NA	NA	2		NA											NA				20939749		2203	4300	6503	SO:0001583	missense			AK025473	CCDS1702.1, CCDS62864.1, CCDS74488.1, CCDS74489.1	2p24.1	2014-02-07			ENSG00000118961	ENSG00000118961	60526	60526			26145	protein-coding gene	gene with protein product		613570			NA	17135363, 24357060	Standard	NM_021925	NM_001282723	NA	Approved	FLJ21820	uc002rec.3	Q9H6V9	OTTHUMG00000122097	ENST00000237822.3:c.685T>G	2.37:g.20939749A>C	ENSP00000237822:p.Leu229Val	NA	D6W530|Q53T37|Q53T58	37	CCDS1702.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.368363	0.24771	.	.	ENSG00000118961	ENST00000403006;ENST00000381090;ENST00000237822;ENST00000435420;ENST00000541941;ENST00000432947	T;T;T	0.47869	0.83;1.56;0.83	5.76	-2.53	0.06326	.	0.579646	0.16566	N	0.208842	T	0.41236	0.1150	L	0.47716	1.5	0.21627	N	0.999619	P;P;B;P	0.47677	0.846;0.899;0.197;0.786	B;P;B;P	0.47941	0.34;0.514;0.378;0.562	T	0.45366	-0.9266	10	0.20046	T	0.44	-1.5435	11.3086	0.49351	0.3846:0.0:0.6154:0.0	.	187;181;229;229	B4DS38;B7ZAJ5;Q9H6V9;B5MDU6	.;.;CB043_HUMAN;.	V	99;229;229;181;99;99	ENSP00000384267:L99V;ENSP00000388635:L181V;ENSP00000440570:L99V	ENSP00000237822:L229V	L	-	1	2	C2orf43	20803230	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.023000	0.12456	-0.259000	0.09432	-0.297000	0.09499	TTA	C2orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000242861.1		-	ENST00000237822.3	Missense_Mutation	SNP	2 : 20939749 - 20939749 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	532	143
NOX5	79400	broad.mit.edu	37	15	69323949	69323949	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69323949C>A	ENST00000260364.5	+	5	664	c.363C>A	c.(361-363)ggC>ggA	p.G121G	NOX5_ENST00000388866.3_Silent_p.G139G|NOX5_ENST00000448182.3_Silent_p.G93G|NOX5_ENST00000455873.3_Silent_p.G104G|NOX5_ENST00000530406.2_Silent_p.G111G			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	139	EF-hand 3; atypical; contains an insert of 28 residues.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CAGGCAGTGGCTCCATTGACC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	36	36			NA	NA	15		NA											NA				69323949		2200	4298	6498	SO:0001819	synonymous_variant			AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346	79400	79400		EF-hand domain containing	14874	protein-coding gene	gene with protein product		606572			NA	11483596	Standard	NM_024505	NM_001184779	NA	Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000260364.5:c.363C>A	15.37:g.69323949C>A		NA	B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	37																																																																																				NOX5-010	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000416639.1		+	ENST00000260364.5	Silent	SNP	15 : 69323949 - 69323949 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	212	38
ZSCAN18	65982	broad.mit.edu	37	19	58596628	58596628	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58596628C>T	ENST00000240727.6	-	7	1356	c.957G>A	c.(955-957)tcG>tcA	p.S319S	ZSCAN18_ENST00000601144.1_Silent_p.S319S|ZSCAN18_ENST00000600404.1_Silent_p.S375S|ZSCAN18_ENST00000421612.2_Silent_p.S183S	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	319					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CAGTGGTGCCCGACGGGGGAT	0.741		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													9	12	11			NA	NA	19		NA											NA				58596628		2099	4138	6237	SO:0001819	synonymous_variant			AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413	65982	65982		-, Zinc fingers, C2H2-type	21037	protein-coding gene	gene with protein product			zinc finger protein 447	ZNF447	NA		Standard	NM_023926	NM_001145542	NA	Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.957G>A	19.37:g.58596628C>T		NA	Q9BRK7|Q9H9A0	37	CCDS12971.1																																																																																			ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466706.1		-	ENST00000240727.6	Silent	SNP	19 : 58596628 - 58596628 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	191	18
KIAA1549	57670	broad.mit.edu	37	7	138602176	138602176	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138602176C>T	ENST00000440172.1	-	2	2244	c.2196G>A	c.(2194-2196)gcG>gcA	p.A732A	KIAA1549_ENST00000242365.4_Silent_p.A682A|KIAA1549_ENST00000422774.1_Silent_p.A732A	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	732	Ser-rich.					integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AAACCGTAGACGCTTCAACAA	0.463		NA	O	BRAF	pilocytic astrocytoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(119;1534 1718 44213 46230 50068)		Dom	yes		7	7q34	57670	KIAA1549		O	0													66	64	64			NA	NA	7		NA											NA				138602176		1961	4156	6117	SO:0001819	synonymous_variant				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778	57670	57670			22219	protein-coding gene	gene with protein product		613344			NA		Standard		NM_020910	NA	Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000440172.1:c.2196G>A	7.37:g.138602176C>T		NA	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	37	CCDS47723.2																																																																																			KIAA1549-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347938.2		-	ENST00000440172.1	Silent	SNP	7 : 138602176 - 138602176 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	284	54
NCOA3	8202	broad.mit.edu	37	20	46264680	46264680	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46264680G>T	ENST00000372004.3	+	12	1766	c.1550G>T	c.(1549-1551)aGc>aTc	p.S517I	NCOA3_ENST00000371997.3_Missense_Mutation_p.S527I|NCOA3_ENST00000371998.3_Missense_Mutation_p.S517I|NCOA3_ENST00000341724.6_Missense_Mutation_p.S527I	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	517	Ser-rich.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGGAACCACAGCTTTTCCAGC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	64	64			NA	NA	20		NA											NA				46264680		2203	4300	6503	SO:0001583	missense			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151	8202	8202		Chromatin-modifying enzymes / K-acetyltransferases, Basic helix-loop-helix proteins	7670	protein-coding gene	gene with protein product	receptor-associated coactivator 3, thyroid hormone receptor activator molecule 1	601937			NA	9252329, 9346901	Standard	NM_006534	NM_181659	NA	Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000372004.3:c.1550G>T	20.37:g.46264680G>T	ENSP00000361073:p.Ser517Ile	NA	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	37	CCDS13406.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.252255	0.39797	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.72	2.76	0.32466	.	0.239134	0.42821	D	0.000652	T	0.23014	0.0556	M	0.70275	2.135	0.37709	D	0.924494	P;P;P;B;P;P	0.40660	0.554;0.677;0.554;0.373;0.682;0.726	B;B;B;B;P;B	0.44860	0.273;0.299;0.273;0.273;0.462;0.342	T	0.05632	-1.0873	10	0.72032	D	0.01	-3.665	7.0434	0.25033	0.2174:0.1333:0.6494:0.0	.	517;527;521;517;517;517	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	I	517;527;517;517;527	ENSP00000342123:S527I;ENSP00000361073:S517I;ENSP00000361066:S517I;ENSP00000361065:S527I	ENSP00000345671:S517I	S	+	2	0	NCOA3	45698087	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	1.198000	0.32223	0.363000	0.24346	-0.150000	0.13652	AGC	NCOA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080403.3		+	ENST00000372004.3	Missense_Mutation	SNP	20 : 46264680 - 46264680 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	497	87
AP3M1	26985	broad.mit.edu	37	10	75893913	75893913	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75893913T>C	ENST00000355264.4	-	4	766	c.455A>G	c.(454-456)aAt>aGt	p.N152S	AP3M1_ENST00000372745.1_Missense_Mutation_p.N152S	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	152					protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					GTCCCCAACATTACTACTGCC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	60	62			NA	NA	10		NA											NA				75893913		2203	4300	6503	SO:0001583	missense			AF092092	CCDS7342.1	10q22.1-q22.3	2008-07-07			ENSG00000185009	ENSG00000185009	26985	26985			569	protein-coding gene	gene with protein product		610366			NA	10024875	Standard		NM_207012	NA	Approved		uc001jwh.3	Q9Y2T2	OTTHUMG00000018497	ENST00000355264.4:c.455A>G	10.37:g.75893913T>C	ENSP00000347408:p.Asn152Ser	NA	Q5JQ12|Q9H5L2	37	CCDS7342.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.972647	0.92919	.	.	ENSG00000185009	ENST00000355264;ENST00000372745	T;T	0.77358	-1.09;-1.09	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.73575	0.3604	L	0.46157	1.445	0.80722	D	1	B;B	0.23058	0.023;0.079	B;B	0.23852	0.024;0.049	T	0.69359	-0.5166	10	0.40728	T	0.16	-22.6387	16.2127	0.82178	0.0:0.0:0.0:1.0	.	98;152	B4DRN6;Q9Y2T2	.;AP3M1_HUMAN	S	152	ENSP00000347408:N152S;ENSP00000361831:N152S	ENSP00000347408:N152S	N	-	2	0	AP3M1	75563919	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	2.236000	0.73375	0.533000	0.62120	AAT	AP3M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048747.1		-	ENST00000355264.4	Missense_Mutation	SNP	10 : 75893913 - 75893913 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	57
TTN	7273	broad.mit.edu	37	2	179606156	179606156	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179606156G>T	ENST00000589042.1	-	48	12028	c.11804C>A	c.(11803-11805)cCt>cAt	p.P3935H	TTN_ENST00000591111.1_Missense_Mutation_p.P3618H|TTN_ENST00000359218.5_Missense_Mutation_p.P3697H|TTN_ENST00000460472.2_Missense_Mutation_p.P3572H|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P3764H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3618							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGAGGACAAGGACCTCCCAG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	157	159			NA	NA	2		NA											NA				179606156		1919	4120	6039	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.11804C>A	2.37:g.179606156G>T	ENSP00000467141:p.Pro3935His	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	G	9.504	1.103928	0.20632	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.61742	0.15;0.09;0.08	5.87	5.87	0.94306	.	.	.	.	.	T	0.53562	0.1804	L	0.49126	1.545	0.27352	N	0.956201	B;B;B	0.12630	0.006;0.006;0.006	B;B;B	0.08055	0.003;0.003;0.003	T	0.49862	-0.8894	9	0.87932	D	0	.	12.6639	0.56830	0.0764:0.0:0.9236:0.0	.	3572;3697;3764	D3DPF9;E7EQE6;E7ET18	.;.;.	H	3572;3764;3697;3572	ENSP00000434586:P3572H;ENSP00000340554:P3764H;ENSP00000352154:P3697H	ENSP00000340554:P3764H	P	-	2	0	TTN	179314401	1.000000	0.71417	0.995000	0.50966	0.441000	0.31987	4.209000	0.58493	2.941000	0.99782	0.655000	0.94253	CCT	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179606156 - 179606156 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	984	145
PRDM2	7799	broad.mit.edu	37	1	14105607	14105607	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:14105607C>T	ENST00000235372.7	+	8	2173	c.1317C>T	c.(1315-1317)aaC>aaT	p.N439N	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Silent_p.N238N|PRDM2_ENST00000343137.4_Silent_p.N238N|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Silent_p.N439N	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	439						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CTGGAGAAAACGTTGCTTCAA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	44	44			NA	NA	1		NA											NA				14105607		2203	4300	6503	SO:0001819	synonymous_variant			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731	7799	7799		Chromatin-modifying enzymes / K-methyltransferases	9347	protein-coding gene	gene with protein product	retinoblastoma protein-binding zinc finger protein, retinoblastoma protein-interacting zinc finger protein, MTE-binding protein, zinc-finger DNA-binding protein, GATA-3 binding protein G3B	601196			NA	7538672	Standard	NM_012231	NM_012231	NA	Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.1317C>T	1.37:g.14105607C>T		NA	Q13149|Q14550|Q5VUL9	37	CCDS150.1																																																																																			PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021792.2		+	ENST00000235372.7	Silent	SNP	1 : 14105607 - 14105607 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	74
ENC1	8507	broad.mit.edu	37	5	73931214	73931214	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:73931214T>C	ENST00000510316.1	-	2	2091	c.878A>G	c.(877-879)gAg>gGg	p.E293G	ENC1_ENST00000537006.1_Missense_Mutation_p.E366G|ENC1_ENST00000302351.4_Missense_Mutation_p.E366G	NM_001256576.1	NP_001243505.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	366					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		GGACCACTCCTCGTGCAGGGT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	62	62			NA	NA	5		NA											NA				73931214		2203	4300	6503	SO:0001583	missense			AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617	8507	8507		Kelch-like, BTB/POZ domain containing	3345	protein-coding gene	gene with protein product	kelch-like family member 37	605173	ectodermal-neural cortex 1 (with BTB-like domain)	NRPB	NA	9305847, 9566959	Standard	NM_003633	NM_003633	NA	Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000510316.1:c.878A>G	5.37:g.73931214T>C	ENSP00000423804:p.Glu293Gly	NA	O75464|Q9UPG9	37	CCDS58958.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.172379	0.78452	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	T;T;T	0.76839	-1.05;-1.05;-1.05	5.89	5.89	0.94794	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.70046	0.3179	N	0.25144	0.715	0.80722	D	1	B	0.19445	0.036	B	0.28305	0.088	T	0.67110	-0.5753	10	0.59425	D	0.04	.	16.3123	0.82883	0.0:0.0:0.0:1.0	.	366	O14682	ENC1_HUMAN	G	366;293;366	ENSP00000306356:E366G;ENSP00000423804:E293G;ENSP00000446289:E366G	ENSP00000306356:E366G	E	-	2	0	ENC1	73966970	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	8.040000	0.89188	2.254000	0.74563	0.459000	0.35465	GAG	ENC1-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369004.1		-	ENST00000510316.1	Missense_Mutation	SNP	5 : 73931214 - 73931214 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	429	93
SCN5A	6331	broad.mit.edu	37	3	38622804	38622804	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38622804G>A	ENST00000455624.2	-	16	2870	c.2846C>T	c.(2845-2847)gCc>gTc	p.A949V	SCN5A_ENST00000450102.2_Missense_Mutation_p.A949V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A949V|SCN5A_ENST00000413689.1_Missense_Mutation_p.A949V|SCN5A_ENST00000425664.1_Missense_Mutation_p.A949V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A949V|SCN5A_ENST00000423572.2_Missense_Mutation_p.A949V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A949V|SCN5A_ENST00000333535.4_Missense_Mutation_p.A949V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A949V			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	949					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTCATCAGGGGCTGTGAGGTT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	39	38			NA	NA	3		NA											NA				38622804		2122	4259	6381	SO:0001583	missense			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873	6331	6331		Sodium channels, Voltage-gated ion channels / Sodium channels	10593	protein-coding gene	gene with protein product	long QT syndrome 3	600163	sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	CMD1E	NA	7842012, 15466643, 16382098	Standard	NM_198056	NM_198056	NA	Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000455624.2:c.2846C>T	3.37:g.38622804G>A	ENSP00000399524:p.Ala949Val	NA	A5H1P8|A6N922|A6N923|B2RTU0|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	37	CCDS54570.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.543967	0.86022	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96716	-4.01;-4.04;-4.04;-4.02;-4.04;-4.01;-4.04;-4.1;-4.02;-4.02	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	D	0.98191	0.9402	M	0.86178	2.8	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	0.999;0.997;1.0;0.999;0.999;0.996;1.0	D;D;D;D;D;P;D	0.85130	0.994;0.985;0.997;0.994;0.994;0.834;0.997	D	0.98974	1.0802	10	0.62326	D	0.03	.	17.6188	0.88075	0.0:0.0:1.0:0.0	.	949;949;949;949;949;949;949	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	V	949	ENSP00000398962:A949V;ENSP00000398266:A949V;ENSP00000410257:A949V;ENSP00000388797:A949V;ENSP00000397915:A949V;ENSP00000416634:A949V;ENSP00000328968:A949V;ENSP00000399524:A949V;ENSP00000403355:A949V;ENSP00000413996:A949V	ENSP00000328968:A949V	A	-	2	0	SCN5A	38597808	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	6.500000	0.73687	2.399000	0.81585	0.655000	0.94253	GCC	SCN5A-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343215.2		-	ENST00000455624.2	Missense_Mutation	SNP	3 : 38622804 - 38622804 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	138	32
ACSL6	23305	broad.mit.edu	37	5	131305833	131305833	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131305833C>T	ENST00000379244.1	-	15	1656	c.1420G>A	c.(1420-1422)Gac>Aac	p.D474N	ACSL6_ENST00000379272.2_Missense_Mutation_p.D489N|ACSL6_ENST00000296869.4_Missense_Mutation_p.D499N|ACSL6_ENST00000379264.2_Missense_Mutation_p.D499N|ACSL6_ENST00000379240.1_Missense_Mutation_p.D474N|ACSL6_ENST00000357096.1_Missense_Mutation_p.D399N|ACSL6_ENST00000379246.1_Missense_Mutation_p.D485N|ACSL6_ENST00000544770.1_Missense_Mutation_p.D383N|ACSL6_ENST00000379255.1_Missense_Mutation_p.D399N|ACSL6_ENST00000379249.3_Missense_Mutation_p.D474N|ACSL6_ENST00000543479.1_Missense_Mutation_p.D474N|ACSL6_ENST00000431707.1_Missense_Mutation_p.D454N			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	474					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.D499Y(2)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAGGTCCAGTCGCCAGGAGTG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	large_intestine(2)											171	150	157			NA	NA	5		NA											NA				131305833		2203	4300	6503	SO:0001583	missense			AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398	23305	23305		Acyl-CoA synthetase family	16496	protein-coding gene	gene with protein product		604443	fatty-acid-Coenzyme A ligase, long-chain 6	FACL6	NA	10502316, 10548543	Standard	NM_015256	NM_015256	NA	Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379244.1:c.1420G>A	5.37:g.131305833C>T	ENSP00000368546:p.Asp474Asn	NA	O94924|O95829|Q108M9|Q108N0|Q86TN7	37	CCDS56381.1	.	.	.	.	.	.	.	.	.	.	C	33	5.275160	0.95459	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479	T;T;T;T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.42	5.42	0.78866	AMP-dependent synthetase/ligase (1);	0.089346	0.85682	D	0.000000	T	0.64897	0.2640	M	0.84683	2.71	0.80722	D	1	P;D;D;P;D;D;D	0.61080	0.708;0.986;0.989;0.752;0.961;0.961;0.961	B;P;P;P;P;P;P	0.55508	0.401;0.534;0.777;0.537;0.534;0.534;0.534	T	0.71464	-0.4585	10	0.72032	D	0.01	.	19.2739	0.94023	0.0:1.0:0.0:0.0	.	474;489;464;474;399;499;499	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	N	474;499;489;399;399;499;485;474;383;474;454;474	ENSP00000368551:D474N;ENSP00000368566:D499N;ENSP00000368574:D489N;ENSP00000349608:D399N;ENSP00000368557:D399N;ENSP00000296869:D499N;ENSP00000368548:D485N;ENSP00000368546:D474N;ENSP00000445154:D383N;ENSP00000368542:D474N;ENSP00000413329:D454N;ENSP00000442124:D474N	ENSP00000296869:D499N	D	-	1	0	ACSL6	131333732	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.792000	0.85828	2.575000	0.86900	0.644000	0.83932	GAC	ACSL6-008	NOVEL	not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132626.1		-	ENST00000379244.1	Missense_Mutation	SNP	5 : 131305833 - 131305833 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	711	22
TRRAP	8295	broad.mit.edu	37	7	98562313	98562313	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98562313C>T	ENST00000446306.3	+	45	6874	c.6813C>T	c.(6811-6813)atC>atT	p.I2271I	TRRAP_ENST00000355540.3_Silent_p.I2272I|TRRAP_ENST00000359863.4_Silent_p.I2290I			Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2290	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACAGGCTGATCTCCGTCTTTA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	88	92			NA	NA	7		NA											NA				98562313		2203	4300	6503	SO:0001819	synonymous_variant			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367	8295	8295			12347	protein-coding gene	gene with protein product		603015			NA	9708738, 9885574	Standard	NM_003496	NM_003496	NA	Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000446306.3:c.6813C>T	7.37:g.98562313C>T		NA	A4D265|O75218|Q9Y631|Q9Y6H4	37		.	.	.	.	.	.	.	.	.	.	C	5.370	0.253478	0.10185	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.17	0.596	0.17496	.	.	.	.	.	T	0.51210	0.1661	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38866	-0.9641	4	.	.	.	.	5.1622	0.15068	0.1358:0.4366:0.0:0.4276	.	.	.	.	F	2012	.	.	S	+	2	0	TRRAP	98400249	0.993000	0.37304	0.990000	0.47175	0.494000	0.33585	0.338000	0.19858	0.246000	0.21394	-0.793000	0.03317	TCT	TRRAP-004	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000317981.3		+	ENST00000446306.3	Silent	SNP	7 : 98562313 - 98562313 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	428	96
NOL9	79707	broad.mit.edu	37	1	6592123	6592123	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6592123T>C	ENST00000377705.5	-	9	1584	c.1552A>G	c.(1552-1554)Att>Gtt	p.I518V		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	518					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCGAAGAATTTTGTTATGT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	118	120			NA	NA	1		NA											NA				6592123		2203	4300	6503	SO:0001583	missense			AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408	79707	79707			26265	protein-coding gene	gene with protein product	polynucleotide 5'-kinase				NA	21063389	Standard	NM_024654	NM_024654	NA	Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.1552A>G	1.37:g.6592123T>C	ENSP00000366934:p.Ile518Val	NA	Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	37	CCDS80.1	.	.	.	.	.	.	.	.	.	.	T	0.456	-0.891319	0.02491	.	.	ENSG00000162408	ENST00000377705	T	0.45276	0.9	5.64	-1.04	0.10068	Pre-mRNA cleavage complex II Clp1 (1);	0.471757	0.20863	N	0.084305	T	0.24431	0.0592	N	0.22421	0.69	0.09310	N	0.999999	B	0.12013	0.005	B	0.08055	0.003	T	0.15636	-1.0430	10	0.29301	T	0.29	-8.2714	10.3635	0.44010	0.0:0.3013:0.0:0.6987	.	518	Q5SY16	NOL9_HUMAN	V	518	ENSP00000366934:I518V	ENSP00000366934:I518V	I	-	1	0	NOL9	6514710	0.029000	0.19370	0.002000	0.10522	0.382000	0.30200	0.135000	0.15952	-0.240000	0.09696	0.379000	0.24179	ATT	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000002625.1		-	ENST00000377705.5	Missense_Mutation	SNP	1 : 6592123 - 6592123 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	40
PTPRH	5794	broad.mit.edu	37	19	55708767	55708767	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55708767C>T	ENST00000376350.3	-	9	1730	c.1708G>A	c.(1708-1710)Gat>Aat	p.D570N	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.D392N	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	570	Fibronectin type-III 7.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TTCTGGAGATCTGTGACCTCA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	66	65			NA	NA	19		NA											NA				55708767		2203	4300	6503	SO:0001583	missense				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031	5794	5794		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing	9672	protein-coding gene	gene with protein product		602510			NA	8294459	Standard		XM_006723312	NA	Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1708G>A	19.37:g.55708767C>T	ENSP00000365528:p.Asp570Asn	NA	Q15426|Q2NKN9|Q2NKP0	37	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	4.720	0.133908	0.09032	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.52057	0.68;0.68	4.94	-3.87	0.04218	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.24122	0.0584	L	0.39020	1.185	0.09310	N	1	B;B;B	0.19331	0.003;0.002;0.035	B;B;B	0.18871	0.01;0.004;0.023	T	0.34675	-0.9819	9	0.05620	T	0.96	.	1.3223	0.02118	0.128:0.3414:0.2322:0.2984	.	392;392;570	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	N	570;392	ENSP00000365528:D570N;ENSP00000263434:D392N	ENSP00000263434:D392N	D	-	1	0	PTPRH	60400579	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.170000	0.09897	-0.451000	0.07097	0.655000	0.94253	GAT	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452649.1		-	ENST00000376350.3	Missense_Mutation	SNP	19 : 55708767 - 55708767 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	454	23
ZNF415	55786	broad.mit.edu	37	19	53612071	53612071	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53612071C>T	ENST00000500065.4	-	4	1560	c.1227G>A	c.(1225-1227)gaG>gaA	p.E409E	ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000448501.1_Silent_p.E457E|ZNF415_ENST00000243643.4_Silent_p.E409E|ZNF415_ENST00000440291.1_Silent_p.E396E|ZNF415_ENST00000455735.2_Silent_p.E457E|ZNF415_ENST00000601493.1_Silent_p.E179E|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000421033.1_Silent_p.E421E	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TGTAAGGTTTCTCTCCAGTAT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	71	71			NA	NA	19		NA											NA				53612071		2203	4300	6503	SO:0001819	synonymous_variant			AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954	55786	55786		Zinc fingers, C2H2-type, -	20636	protein-coding gene	gene with protein product					NA	14702039	Standard	NM_018355	NM_001136038	NA	Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.1227G>A	19.37:g.53612071C>T		NA	Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	37	CCDS54313.1																																																																																			ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464043.1		-	ENST00000500065.4	Silent	SNP	19 : 53612071 - 53612071 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	72
PPP4R1	9989	broad.mit.edu	37	18	9559502	9559502	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9559502C>T	ENST00000400556.3	-	14	2016	c.1943G>A	c.(1942-1944)aGc>aAc	p.S648N	PPP4R1_ENST00000400555.3_Missense_Mutation_p.S631N	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	648					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						ACCAGGGAGGCTATATGCACA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(188;1232 2082 5061 11948 35994)							NA				0													174	160	164			NA	NA	18		NA											NA				9559502		2014	4193	6207	SO:0001583	missense			AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845	9989	9989		Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits	9320	protein-coding gene	gene with protein product		604908			NA	10026142	Standard	NM_005134	NM_001042388	NA	Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.1943G>A	18.37:g.9559502C>T	ENSP00000383402:p.Ser648Asn	NA	Q99774|Q9UNQ7	37	CCDS42412.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555564	0.65425	.	.	ENSG00000154845	ENST00000400556;ENST00000400555	T;T	0.33216	1.42;1.42	5.57	4.69	0.59074	Armadillo-like helical (1);Armadillo-type fold (1);	0.133058	0.64402	D	0.000003	T	0.38374	0.1038	L	0.43923	1.385	0.53005	D	0.999968	B;D;B	0.54047	0.356;0.964;0.318	B;P;B	0.52031	0.057;0.688;0.122	T	0.08868	-1.0701	9	.	.	.	-13.2938	15.6966	0.77506	0.1379:0.8621:0.0:0.0	.	631;648;631	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	N	648;631	ENSP00000383402:S648N;ENSP00000383401:S631N	.	S	-	2	0	PPP4R1	9549502	1.000000	0.71417	0.980000	0.43619	0.692000	0.40212	7.487000	0.81328	1.316000	0.45131	0.650000	0.86243	AGC	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268571.1		-	ENST00000400556.3	Missense_Mutation	SNP	18 : 9559502 - 9559502 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	762	144
STXBP5	134957	broad.mit.edu	37	6	147581831	147581831	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147581831T>C	ENST00000367481.3	+	5	620	c.512T>C	c.(511-513)gTg>gCg	p.V171A	STXBP5_ENST00000546097.1_Missense_Mutation_p.V171A|STXBP5_ENST00000321680.6_Missense_Mutation_p.V171A|STXBP5_ENST00000179882.6_5'UTR|STXBP5_ENST00000367480.3_Missense_Mutation_p.V171A	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	171					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		ATTGTCAATGTGGAGTCCTTC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	117	119			NA	NA	6		NA											NA				147581831		2203	4300	6503	SO:0001583	missense			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506	NA	134957		WD repeat domain containing	19665	protein-coding gene	gene with protein product		604586			NA	9620695, 14767561	Standard		NM_139244	NA	Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000367481.3:c.512T>C	6.37:g.147581831T>C	ENSP00000356451:p.Val171Ala	NA	Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	37	CCDS5211.1	.	.	.	.	.	.	.	.	.	.	T	18.87	3.715895	0.68844	.	.	ENSG00000164506	ENST00000367481;ENST00000546097;ENST00000321680;ENST00000367480	T;T;T;T	0.67171	1.49;4.94;1.49;-0.25	5.49	5.49	0.81192	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.73892	0.3645	L	0.58428	1.81	0.80722	D	1	D;D	0.67145	0.996;0.993	D;P	0.76071	0.987;0.864	T	0.76788	-0.2830	10	0.56958	D	0.05	.	15.585	0.76475	0.0:0.0:0.0:1.0	.	171;171	Q5T5C0-2;Q5T5C0	.;STXB5_HUMAN	A	171	ENSP00000356451:V171A;ENSP00000441479:V171A;ENSP00000321826:V171A;ENSP00000356450:V171A	ENSP00000321826:V171A	V	+	2	0	STXBP5	147623524	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.071000	0.62044	0.533000	0.62120	GTG	STXBP5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042605.1		+	ENST00000367481.3	Missense_Mutation	SNP	6 : 147581831 - 147581831 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	419	83
ERBB4	2066	broad.mit.edu	37	2	212615400	212615400	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212615400G>A	ENST00000342788.4	-	5	896	c.586C>T	c.(586-588)Cgt>Tgt	p.R196C	ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000402597.1_Missense_Mutation_p.R196C|ERBB4_ENST00000436443.1_Missense_Mutation_p.R196C	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	196	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CCCCAGCAACGGCCAGTACAG	0.453		NA								TSP Lung(8;0.080)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	112	118			NA	NA	2		NA											NA				212615400		2203	4300	6503	SO:0001583	missense			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568	2066	2066			3432	protein-coding gene	gene with protein product		600543	v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4		NA	7700649, 17018285	Standard	NM_001042599	NM_001042599	NA	Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.586C>T	2.37:g.212615400G>A	ENSP00000342235:p.Arg196Cys	NA	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	37	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206073	0.79127	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.30182	1.54;1.54;1.54	5.58	4.67	0.58626	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.056132	0.64402	D	0.000001	T	0.59729	0.2215	M	0.85945	2.785	0.54753	D	0.999989	D;D;D;D;D	0.89917	1.0;1.0;0.959;1.0;1.0	D;D;P;D;D	0.91635	0.998;0.952;0.737;0.998;0.999	T	0.64093	-0.6488	10	0.51188	T	0.08	.	15.8781	0.79182	0.0:0.0:0.8639:0.136	.	196;196;55;196;196	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.;.;.;.;ERBB4_HUMAN	C	196	ENSP00000342235:R196C;ENSP00000403204:R196C;ENSP00000385565:R196C	ENSP00000342235:R196C	R	-	1	0	ERBB4	212323645	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.332000	0.59279	2.625000	0.88918	0.650000	0.86243	CGT	ERBB4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256597.1		-	ENST00000342788.4	Missense_Mutation	SNP	2 : 212615400 - 212615400 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	63
SLC26A11	284129	broad.mit.edu	37	17	78197116	78197116	+	Missense_Mutation	SNP	A	A	C	rs144577972		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78197116A>C	ENST00000361193.3	+	5	773	c.493A>C	c.(493-495)Atc>Ctc	p.I165L	SLC26A11_ENST00000572725.1_Missense_Mutation_p.I165L|SLC26A11_ENST00000546047.2_Missense_Mutation_p.I165L|SLC26A11_ENST00000411502.3_Missense_Mutation_p.I165L	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	165						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGCCGTCACCATCGGCTTTGG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	64	73			NA	NA	17		NA											NA				78197116		2203	4300	6503	SO:0001583	missense				CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045	284129	284129		Solute carriers	14471	protein-coding gene	gene with protein product		610117	solute carrier family 26, member 11		NA		Standard		NM_001166347	NA	Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.493A>C	17.37:g.78197116A>C	ENSP00000355384:p.Ile165Leu	NA	B2RCI7|Q86VX1|Q86YX7|Q8IV11|Q8N2I1|Q8NG03	37	CCDS11771.2	.	.	.	.	.	.	.	.	.	.	A	21.8	4.200068	0.79015	.	.	ENSG00000181045	ENST00000411502;ENST00000546047;ENST00000361193	D;D;D	0.95307	-3.67;-3.67;-3.67	4.03	4.03	0.46877	Sulphate transporter (1);	0.000000	0.85682	D	0.000000	D	0.97892	0.9307	H	0.97158	3.95	0.58432	D	0.999997	D	0.69078	0.997	D	0.66351	0.943	D	0.98638	1.0674	10	0.87932	D	0	-16.2882	12.6881	0.56960	1.0:0.0:0.0:0.0	.	165	Q86WA9	S2611_HUMAN	L	165	ENSP00000403998:I165L;ENSP00000440724:I165L;ENSP00000355384:I165L	ENSP00000355384:I165L	I	+	1	0	SLC26A11	75811711	1.000000	0.71417	0.496000	0.27539	0.622000	0.37654	9.167000	0.94773	1.476000	0.48215	0.397000	0.26171	ATC	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257281.1		+	ENST00000361193.3	Missense_Mutation	SNP	17 : 78197116 - 78197116 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	244	41
MARK4	57787	broad.mit.edu	37	19	45762366	45762366	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45762366C>T	ENST00000300843.4	+	2	468	c.171C>T	c.(169-171)ggC>ggT	p.G57G	MARK4_ENST00000262891.4_Silent_p.G57G	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	57					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCCACGTGGGCAACTACCGCC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	38	40			NA	NA	19		NA											NA				45762366		2203	4300	6503	SO:0001819	synonymous_variant			AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	57787	57787	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	MAP/microtubule affinity-regulating kinase like 1	MARKL1	NA	23400999, 11326310, 9108484	Standard	NM_031417	NM_001199867	NA	Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000300843.4:c.171C>T	19.37:g.45762366C>T		NA	Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	37	CCDS12658.1																																																																																			MARK4-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457538.1		+	ENST00000300843.4	Silent	SNP	19 : 45762366 - 45762366 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	219	30
GPR56	9289	broad.mit.edu	37	16	57689823	57689823	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57689823C>T	ENST00000562631.1	+	7	1468	c.936C>T	c.(934-936)gtC>gtT	p.V312V	GPR56_ENST00000568908.1_Silent_p.V312V|GPR56_ENST00000379694.4_Silent_p.V142V|GPR56_ENST00000388813.5_Silent_p.V312V|GPR56_ENST00000540164.2_Silent_p.V312V|GPR56_ENST00000544297.1_Silent_p.V137V|GPR56_ENST00000567835.1_Silent_p.V312V|GPR56_ENST00000388812.4_Silent_p.V312V|GPR56_ENST00000538815.1_Silent_p.V312V|GPR56_ENST00000379696.3_Silent_p.V312V|GPR56_ENST00000456916.1_Silent_p.V312V|GPR56_ENST00000568909.1_Silent_p.V312V|GPR56_ENST00000562558.1_Silent_p.V312V			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	312					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						GTGAGAAGGTCTTGGGGATTG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	125	126			NA	NA	16		NA											NA				57689823		2198	4300	6498	SO:0001819	synonymous_variant			AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336	NA	9289		-, GPCR / Class B : Orphans	4512	protein-coding gene	gene with protein product		604110			NA	10049584, 10100861	Standard		XM_005256237	NA	Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000562631.1:c.936C>T	16.37:g.57689823C>T		NA	A6NIT7|A6NJV9|B0M0K4|O95966|Q8NGB3|Q96HB4	37	CCDS32461.1																																																																																			GPR56-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000433438.3		+	ENST00000562631.1	Silent	SNP	16 : 57689823 - 57689823 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	885	155
MAD1L1	8379	broad.mit.edu	37	7	2041733	2041733	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2041733C>A	ENST00000402746.1	-	12	1304	c.1107G>T	c.(1105-1107)gaG>gaT	p.E369D	MAD1L1_ENST00000406869.1_Missense_Mutation_p.E461D|MAD1L1_ENST00000399654.2_Missense_Mutation_p.E461D|MAD1L1_ENST00000265854.7_Missense_Mutation_p.E461D			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	461					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CTCCCAGCTCCTCCAGGGCCT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	148	142			NA	NA	7		NA											NA				2041733		2071	4215	6286	SO:0001583	missense			U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822	8379	8379			6762	protein-coding gene	gene with protein product		602686	MAD1 (mitotic arrest deficient, yeast, homolog)-like 1		NA	10049595, 9546394	Standard	NM_003550	XM_005249876	NA	Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000402746.1:c.1107G>T	7.37:g.2041733C>A	ENSP00000384155:p.Glu369Asp	NA	Q13312|Q75MI0|Q86UM4|Q9UNH0	37		.	.	.	.	.	.	.	.	.	.	C	20.2	3.953479	0.73902	.	.	ENSG00000002822	ENST00000402746;ENST00000399654;ENST00000406869;ENST00000265854;ENST00000438959;ENST00000444373	T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9	5.51	2.23	0.28157	.	0.112010	0.64402	D	0.000014	T	0.36386	0.0965	L	0.55834	1.745	0.34495	D	0.705382	D;D;D	0.71674	0.996;0.998;0.996	D;D;D	0.66716	0.946;0.946;0.926	T	0.44143	-0.9347	10	0.37606	T	0.19	-36.0481	5.5262	0.16959	0.0:0.5627:0.0:0.4373	.	460;369;461	A4D218;B3KR41;Q9Y6D9	.;.;MD1L1_HUMAN	D	369;461;461;461;128;51	ENSP00000384155:E369D;ENSP00000382562:E461D;ENSP00000385334:E461D;ENSP00000265854:E461D;ENSP00000414877:E128D;ENSP00000393037:E51D	ENSP00000265854:E461D	E	-	3	2	MAD1L1	2008259	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.347000	0.20014	0.664000	0.31047	0.650000	0.86243	GAG	MAD1L1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000322870.1		-	ENST00000402746.1	Missense_Mutation	SNP	7 : 2041733 - 2041733 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1238	231
KIRREL2	84063	broad.mit.edu	37	19	36348369	36348369	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36348369G>A	ENST00000360202.5	+	2	382	c.184G>A	c.(184-186)Gcc>Acc	p.A62T	KIRREL2_ENST00000347900.6_Intron|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.A62T|KIRREL2_ENST00000262625.7_Missense_Mutation_p.A62T	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	62	Ig-like C2-type 1.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGTGGGCTGGCCCTAGGGGG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	52	49			NA	NA	19		NA											NA				36348369		2203	4298	6501	SO:0001583	missense			AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259	84063	84063		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	18816	protein-coding gene	gene with protein product		607762			NA	12837264, 12504092	Standard	NM_032123	NM_199180	NA	Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.184G>A	19.37:g.36348369G>A	ENSP00000353331:p.Ala62Thr	NA	C9JHF1|C9JJ76|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	37	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	G	31	5.061013	0.93846	.	.	ENSG00000126259	ENST00000262625;ENST00000360202;ENST00000341658	T;T	0.67171	-0.25;-0.25	5.35	4.3	0.51218	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.47852	D	0.000215	T	0.75679	0.3882	L	0.58354	1.805	0.36210	D	0.85129	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.76071	0.987;0.987;0.978	T	0.80520	-0.1346	10	0.87932	D	0	-14.889	9.3277	0.38003	0.0961:0.0:0.9039:0.0	.	62;62;62	F1T0I2;Q6UWL6;Q6UWL6-2	.;KIRR2_HUMAN;.	T	62	ENSP00000262625:A62T;ENSP00000353331:A62T	ENSP00000262625:A62T	A	+	1	0	KIRREL2	41040209	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.156000	0.71840	2.672000	0.90937	0.650000	0.86243	GCC	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452561.1		+	ENST00000360202.5	Missense_Mutation	SNP	19 : 36348369 - 36348369 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	660	134
ULK3	25989	broad.mit.edu	37	15	75133792	75133792	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75133792C>T	ENST00000440863.2	-	4	514	c.423G>A	c.(421-423)caG>caA	p.Q141Q	ULK3_ENST00000569437.1_Silent_p.Q141Q|ULK3_ENST00000568667.1_Silent_p.Q152Q	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	141	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(2)	2						GTAGAATGTTCTGTGGCTTCA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	122	120			NA	NA	15		NA											NA				75133792		1990	4168	6158	SO:0001819	synonymous_variant			BC048289		15q24.1	2013-07-02	2013-07-02			ENSG00000140474	25989	25989			19703	protein-coding gene	gene with protein product		613472	unc-51-like kinase 3 (C. elegans)		NA		Standard	NM_015518	XM_005254289	NA	Approved	DKFZP434C131, FLJ90566	uc010bkf.1	Q6PHR2		ENST00000440863.2:c.423G>A	15.37:g.75133792C>T		NA	B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	37	CCDS45305.1																																																																																			ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421734.4		-	ENST00000440863.2	Silent	SNP	15 : 75133792 - 75133792 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	223	35
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	158970563	158970563	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:158970563T>C	ENST00000485419.1	+	3	291	c.122T>C	c.(121-123)cTc>cCc	p.L41P	IQCJ_ENST00000482126.1_Intron|IQCJ_ENST00000481796.1_Intron|IQCJ_ENST00000451172.1_Missense_Mutation_p.L41P|IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ_ENST00000397832.2_Missense_Mutation_p.L41P	NM_001197113.1	NP_001184042.1	Q9P0W5	SCHI1_HUMAN	IQCJ-SCHIP1 readthrough	0	Ser-rich.					cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						AAGTATCCCCTCAATCTACAG	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	86	87			NA	NA	3		NA											NA				158970563		1833	4091	5924	SO:0001583	missense				CCDS56289.1, CCDS56291.1	3q25.33	2011-03-24			ENSG00000250588	ENSG00000250588	100505385	100505385			38842	other	readthrough					NA		Standard	NM_001197113	NM_001197113	NA	Approved		uc003fcq.2		OTTHUMG00000162426	ENST00000485419.1:c.122T>C	3.37:g.158970563T>C	ENSP00000420182:p.Leu41Pro	NA	B3KRM0|O75543|Q00P30|Q00P31|Q7Z3Y3|Q8IY83|Q9P0W3|Q9P0W4	37	CCDS56289.1	.	.	.	.	.	.	.	.	.	.	T	18.17	3.565006	0.65651	.	.	ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000214216;ENSG00000214216	ENST00000471575;ENST00000485419;ENST00000483486;ENST00000488898;ENST00000397832;ENST00000451172	T	0.37752	1.18	5.66	5.66	0.87406	.	0.139013	0.28376	U	0.015570	T	0.45478	0.1344	L	0.29908	0.895	0.80722	D	1	P;D;D	0.89917	0.95;1.0;0.99	P;D;P	0.76575	0.776;0.988;0.839	T	0.46843	-0.9162	10	0.87932	D	0	.	9.406	0.38462	0.0:0.0804:0.0:0.9196	.	41;41;41	Q9P0W5-5;Q1A5X6;Q1A5X6-2	.;IQCJ_HUMAN;.	P	41;41;41;12;41;41	ENSP00000420182:L41P	ENSP00000380932:L41P	L	+	2	0	IQCJ-SCHIP1;IQCJ	160453257	0.348000	0.24861	1.000000	0.80357	0.985000	0.73830	1.824000	0.39072	2.153000	0.67306	0.460000	0.39030	CTC	IQCJ-SCHIP1-001	KNOWN	basic|appris_candidate_longest|readthrough_transcript|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368858.1		+	ENST00000485419.1	Missense_Mutation	SNP	3 : 158970563 - 158970563 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	113	24
RBM46	166863	broad.mit.edu	37	4	155719270	155719270	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155719270G>T	ENST00000510397.1	+	3	638	c.459G>T	c.(457-459)aaG>aaT	p.K153N	RBM46_ENST00000514866.1_Missense_Mutation_p.K153N|RBM46_ENST00000281722.3_Missense_Mutation_p.K153N	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	153	RRM 2.						nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				AGGAAAAGAAGAAAGAAGAAA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	68	66			NA	NA	4		NA											NA				155719270		2203	4300	6503	SO:0001583	missense			BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962	166863	166863		RNA binding motif (RRM) containing	28401	protein-coding gene	gene with protein product	cancer/testis antigen 68				NA	12477932	Standard	NM_144979	NM_144979	NA	Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000510397.1:c.459G>T	4.37:g.155719270G>T	ENSP00000422813:p.Lys153Asn	NA		37		.	.	.	.	.	.	.	.	.	.	G	13.83	2.354214	0.41700	.	.	ENSG00000151962	ENST00000514866;ENST00000281722;ENST00000510397	T;T;T	0.15487	2.42;2.42;2.42	5.79	0.892	0.19230	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.102857	0.64402	D	0.000002	T	0.26702	0.0653	L	0.54323	1.7	0.39437	D	0.967185	B;P;P	0.41569	0.34;0.755;0.578	B;P;P	0.53809	0.215;0.735;0.568	T	0.02617	-1.1133	10	0.48119	T	0.1	-17.5845	10.4173	0.44329	0.5062:0.0:0.4938:0.0	.	153;153;153	B4DZ27;B3KWU8;Q8TBY0	.;.;RBM46_HUMAN	N	153	ENSP00000424500:K153N;ENSP00000281722:K153N;ENSP00000422813:K153N	ENSP00000281722:K153N	K	+	3	2	RBM46	155938720	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.876000	0.39588	0.189000	0.20188	-0.251000	0.11542	AAG	RBM46-001	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000365257.1		+	ENST00000510397.1	Missense_Mutation	SNP	4 : 155719270 - 155719270 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	451	71
MFF	56947	broad.mit.edu	37	2	228205077	228205077	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228205077C>T	ENST00000353339.3	+	6	940	c.499C>T	c.(499-501)Ctg>Ttg	p.L167L	MFF_ENST00000476924.1_3'UTR|MFF_ENST00000409565.1_Silent_p.L141L|MFF_ENST00000304593.9_Silent_p.L141L|MFF_ENST00000354503.6_Silent_p.L141L|MFF_ENST00000392059.1_Silent_p.L167L|MFF_ENST00000337110.7_Silent_p.L141L|MFF_ENST00000409616.1_Silent_p.L141L|MFF_ENST00000349901.7_Silent_p.L141L|MFF_ENST00000524634.1_Silent_p.L12L	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	167						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						AAATGGACAGCTGGTCAGAAA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	78	81			NA	NA	2		NA											NA				228205077		2203	4300	6503	SO:0001819	synonymous_variant			AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958	56947	56947			24858	protein-coding gene	gene with protein product		614785	chromosome 2 open reading frame 33	C2orf33	NA	18353969	Standard	NM_020194	NM_001277061	NA	Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.499C>T	2.37:g.228205077C>T		NA	Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	37	CCDS2465.1																																																																																			MFF-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256887.2		+	ENST00000353339.3	Silent	SNP	2 : 228205077 - 228205077 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	222	53
ATP10A	57194	broad.mit.edu	37	15	26026197	26026197	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:26026197C>T	ENST00000356865.6	-	2	734	c.623G>A	c.(622-624)cGg>cAg	p.R208Q		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	208					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.R208Q(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CACCTGCCGCCGCTTCAGGTT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											72	74	74			NA	NA	15		NA											NA				26026197		2203	4300	6503	SO:0001583	missense			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190	57194	57194		ATPases / P-type	13542	protein-coding gene	gene with protein product		605855	ATPase, Class V, type 10C, ATPase, Class V, type 10A	ATP10C	NA	11015572, 9628581	Standard	NM_024490	NM_024490	NA	Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.623G>A	15.37:g.26026197C>T	ENSP00000349325:p.Arg208Gln	NA	Q969I4	37	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	8.388	0.839056	0.16891	.	.	ENSG00000206190	ENST00000356865	D	0.90385	-2.66	4.67	3.67	0.42095	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.121989	0.56097	D	0.000034	T	0.55862	0.1947	N	0.00082	-2.215	0.38704	D	0.953065	B	0.11235	0.004	B	0.09377	0.004	T	0.66803	-0.5831	10	0.02654	T	1	-29.3942	4.2405	0.10645	0.0:0.7173:0.0:0.2827	.	208	O60312	AT10A_HUMAN	Q	208	ENSP00000349325:R208Q	ENSP00000349325:R208Q	R	-	2	0	ATP10A	23577290	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.672000	0.54583	2.428000	0.82296	0.561000	0.74099	CGG	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414830.1		-	ENST00000356865.6	Missense_Mutation	SNP	15 : 26026197 - 26026197 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	549	24
PDGFRA	5156	broad.mit.edu	37	4	55140704	55140704	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55140704G>A	ENST00000257290.5	+	11	1896	c.1565G>A	c.(1564-1566)cGt>cAt	p.R522H	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	522					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GTAGCCCTGCGTTCTGAACTC	0.498		NA	Mis, O, T	FIP1L1	GIST, idiopathic hypereosinophilic syndrome, paediatric GBM				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(151;208 1913 7310 23853 37092)		Dom	yes		4	4q11-q13	5156	platelet-derived growth factor, alpha-receptor		L, M, O	0													166	150	155			NA	NA	4		NA											NA				55140704		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853	5156	5156		CD molecules, Immunoglobulin superfamily / I-set domain containing	8803	protein-coding gene	gene with protein product		173490			NA		Standard	NM_006206	NM_006206	NA	Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1565G>A	4.37:g.55140704G>A	ENSP00000257290:p.Arg522His	NA	B2RE69|Q96KZ7|Q9UD28	37	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	9.609	1.130862	0.21041	.	.	ENSG00000134853	ENST00000257290	T	0.76186	-1.0	6.07	4.37	0.52481	.	0.000000	0.31542	U	0.007464	T	0.51941	0.1704	N	0.08118	0	0.80722	D	1	B;B	0.12013	0.003;0.005	B;B	0.06405	0.002;0.001	T	0.41520	-0.9504	10	0.10902	T	0.67	.	12.8769	0.57996	0.131:0.0:0.869:0.0	.	522;522	P16234-3;P16234	.;PGFRA_HUMAN	H	522	ENSP00000257290:R522H	ENSP00000257290:R522H	R	+	2	0	PDGFRA	54835461	1.000000	0.71417	0.997000	0.53966	0.719000	0.41307	3.232000	0.51302	0.908000	0.36671	-0.150000	0.13652	CGT	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250598.2		+	ENST00000257290.5	Missense_Mutation	SNP	4 : 55140704 - 55140704 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	576	112
CASZ1	54897	broad.mit.edu	37	1	10725412	10725412	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10725412C>A	ENST00000377022.3	-	5	550	c.233G>T	c.(232-234)cGc>cTc	p.R78L	CASZ1_ENST00000344008.5_Missense_Mutation_p.R78L|CASZ1_ENST00000478728.2_5'UTR	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	78					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.R78H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TTCCTCGCTGCGGGGGGCCCG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											43	53	49			NA	NA	1		NA											NA				10725412		2123	4218	6341	SO:0001583	missense			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940	54897	54897		Zinc fingers, C2H2-type	26002	protein-coding gene	gene with protein product	zinc finger protein 693, survival related gene	609895	castor homolog 1, zinc finger (Drosophila)		NA	16631614, 21252912	Standard	NM_017766	NM_001079843	NA	Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.233G>T	1.37:g.10725412C>A	ENSP00000366221:p.Arg78Leu	NA	Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	37	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463829	0.43736	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.42	4.42	0.53409	.	0.203933	0.32314	N	0.006272	T	0.24890	0.0604	N	0.04508	-0.205	0.30057	N	0.811243	B;B;B	0.26512	0.002;0.151;0.002	B;B;B	0.25987	0.002;0.065;0.002	T	0.14309	-1.0477	9	0.37606	T	0.19	-17.2461	17.4322	0.87542	0.0:1.0:0.0:0.0	.	102;78;78	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	L	78	.	ENSP00000339445:R78L	R	-	2	0	CASZ1	10647999	0.750000	0.28316	0.996000	0.52242	0.941000	0.58515	0.655000	0.24933	2.191000	0.70037	0.511000	0.50034	CGC	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005673.2		-	ENST00000377022.3	Missense_Mutation	SNP	1 : 10725412 - 10725412 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	621	151
STAM	8027	broad.mit.edu	37	10	17750861	17750861	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17750861G>A	ENST00000377524.3	+	13	1511	c.1296G>A	c.(1294-1296)ccG>ccA	p.P432P	STAM_ENST00000540523.1_Silent_p.P321P	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	432					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						GTCTTCCCCCGGAGCAGCTGT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	87	88			NA	NA	10		NA											NA				17750861		2203	4300	6503	SO:0001819	synonymous_variant			U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738	8027	8027			11357	protein-coding gene	gene with protein product	HSE1 homolog (S. cerevisiae)	601899			NA	8780729	Standard	NM_003473	NM_003473	NA	Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.1296G>A	10.37:g.17750861G>A		NA	B0YJ99|D3DRU5|Q8N6D9	37	CCDS7122.1																																																																																			STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047039.1		+	ENST00000377524.3	Silent	SNP	10 : 17750861 - 17750861 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	469	113
MAP4K1	11184	broad.mit.edu	37	19	39090764	39090764	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39090764C>T	ENST00000591517.1	-	21	1589	c.1561G>A	c.(1561-1563)Ggc>Agc	p.G521S	MAP4K1_ENST00000396857.2_Missense_Mutation_p.G521S|MAP4K1_ENST00000423454.2_Missense_Mutation_p.G183S|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000589130.1_Missense_Mutation_p.G517S|CTB-186G2.1_ENST00000589557.1_RNA	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	521	CNH.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ATGAAGATGCCTTCCTCTGCC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	54	53			NA	NA	19		NA											NA				39090764		2060	4195	6255	SO:0001583	missense			U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	11184	11184	2.7.11.1	Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases	6863	protein-coding gene	gene with protein product	hematopoietic progenitor kinase 1	601983			NA	8824585	Standard	NM_001042600	NM_001042600	NA	Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1561G>A	19.37:g.39090764C>T	ENSP00000465039:p.Gly521Ser	NA		37	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	.	33	5.253734	0.95336	.	.	ENSG00000104814	ENST00000396857;ENST00000221409;ENST00000423454	T;T	0.25085	1.82;1.82	4.93	4.93	0.64822	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.53465	0.1798	M	0.80183	2.485	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.58713	-0.7588	10	0.87932	D	0	.	15.2164	0.73270	0.0:1.0:0.0:0.0	.	183;521;521	B4E087;Q92918-2;Q92918	.;.;M4K1_HUMAN	S	521;521;183	ENSP00000380066:G521S;ENSP00000396383:G183S	ENSP00000221409:G521S	G	-	1	0	MAP4K1	43782604	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.603000	0.67619	2.578000	0.87016	0.555000	0.69702	GGC	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453390.1		-	ENST00000591517.1	Missense_Mutation	SNP	19 : 39090764 - 39090764 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	62
PSG4	5672	broad.mit.edu	37	19	43698728	43698728	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43698728C>A	ENST00000405312.3	-	5	1244	c.1007G>T	c.(1006-1008)aGc>aTc	p.S336I	PSG4_ENST00000433626.2_Missense_Mutation_p.S243I|PSG4_ENST00000244295.9_Missense_Mutation_p.S243I	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	336	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				AGGGTAAATGCTGGGGAGGTC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	136	134			NA	NA	19		NA											NA				43698728		2201	4295	6496	SO:0001583	missense				CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137	5672	5672		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	9521	protein-coding gene	gene with protein product	pregnancy-specific beta-1-glycoprotein 4	176393			NA	2783133	Standard	NM_213633	NM_002780	NA	Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.1007G>T	19.37:g.43698728C>A	ENSP00000384770:p.Ser336Ile	NA	Q13047|Q13048|Q15234|Q15240|Q9UQ76	37	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	c	2.508	-0.313692	0.05422	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000433626	T;T;T	0.11495	2.77;2.77;2.77	1.4	0.141	0.14811	Immunoglobulin-like (1);	.	.	.	.	T	0.10637	0.0260	N	0.13140	0.3	0.09310	N	1	B;B;B	0.32302	0.048;0.001;0.363	B;B;P	0.50896	0.189;0.005;0.653	T	0.51356	-0.8716	9	0.17369	T	0.5	.	5.4507	0.16563	0.0:0.389:0.611:0.0	.	243;243;336	E7EX79;Q00888-2;Q00888	.;.;PSG4_HUMAN	I	243;336;243	ENSP00000244295:S243I;ENSP00000384770:S336I;ENSP00000387864:S243I	ENSP00000244295:S243I	S	-	2	0	PSG4	48390568	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-1.180000	0.03088	-0.099000	0.12263	-0.551000	0.04211	AGC	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323073.1		-	ENST00000405312.3	Missense_Mutation	SNP	19 : 43698728 - 43698728 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1143	206
AHNAK2	113146	broad.mit.edu	37	14	105412761	105412761	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105412761C>T	ENST00000557457.1	-	2	24				AHNAK2_ENST00000333244.5_Silent_p.E3009E			Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	NA						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCACTTCGGCCTCCACCTTCG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													207	217	214			NA	NA	14		NA											NA				105412761		2015	4154	6169	SO:0001627	intron_variant			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567	113146	113146			20125	protein-coding gene	gene with protein product		608570	chromosome 14 open reading frame 78	C14orf78	NA	15007166	Standard	NM_138420	NM_138420	NA	Approved		uc010axc.1	Q8IVF2		ENST00000557457.1:c.220-5446G>A	14.37:g.105412761C>T		NA	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	37																																																																																				AHNAK2-003	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000410299.1		-	ENST00000557457.1	Intron	SNP	14 : 105412761 - 105412761 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1658	62
CCDC40	55036	broad.mit.edu	37	17	78055849	78055849	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78055849A>G	ENST00000397545.4	+	12	2008	c.1981A>G	c.(1981-1983)Acc>Gcc	p.T661A	CCDC40_ENST00000374877.3_Missense_Mutation_p.T661A	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	661					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GAAGGAGAAGACCAACATGGT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	37	36			NA	NA	17		NA											NA				78055849		2169	4278	6447	SO:0001583	missense			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519	55036	55036			26090	protein-coding gene	gene with protein product		613799			NA	21131974	Standard	XM_371082	NM_017950	NA	Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1981A>G	17.37:g.78055849A>G	ENSP00000380679:p.Thr661Ala	NA	A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	37	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	A	9.233	1.036266	0.19669	.	.	ENSG00000141519	ENST00000374877;ENST00000397545	T;T	0.46819	0.86;0.91	4.86	4.86	0.63082	.	.	.	.	.	T	0.44582	0.1300	M	0.69823	2.125	0.32611	N	0.524658	B;B	0.16396	0.017;0.002	B;B	0.14578	0.011;0.009	T	0.51060	-0.8753	9	0.15499	T	0.54	-41.126	10.5946	0.45329	0.8386:0.1614:0.0:0.0	.	661;444	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	A	661	ENSP00000364011:T661A;ENSP00000380679:T661A	ENSP00000364011:T661A	T	+	1	0	CCDC40	75670444	0.907000	0.30839	1.000000	0.80357	0.977000	0.68977	1.387000	0.34430	1.794000	0.52575	0.533000	0.62120	ACC	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256005.2		+	ENST00000397545.4	Missense_Mutation	SNP	17 : 78055849 - 78055849 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	219	35
GRAMD1C	54762	broad.mit.edu	37	3	113623099	113623099	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113623099G>A	ENST00000472026.1	+	3	364	c.268G>A	c.(268-270)Gat>Aat	p.D90N	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000358160.4_Missense_Mutation_p.D257N|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.D52N|GRAMD1C_ENST00000452134.2_De_novo_Start_InFrame			Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	257	GRAM.					integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						AGAGTCATTCGATGGAAATTC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	70	76	74		769,154	3.7	0	3		74	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GRAMD1C	NM_017577.4,NM_001172105.1	23,23	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign,benign	257/663,52/458	113623099	1,13005	2203	4300	6503	SO:0001583	missense				CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075	54762	54762			25252	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_017577	NM_017577	NA	Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000472026.1:c.268G>A	3.37:g.113623099G>A	ENSP00000419132:p.Asp90Asn	NA	A8K9Y1|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	37		.	.	.	.	.	.	.	.	.	.	G	10.48	1.362379	0.24684	0.0	1.16E-4	ENSG00000178075	ENST00000358160;ENST00000472026;ENST00000462838;ENST00000440446	T;T;T	0.45668	1.47;0.89;0.94	5.72	3.74	0.42951	.	1.651810	0.04538	N	0.387595	T	0.30386	0.0763	N	0.20807	0.61	0.20074	N	0.999931	B;B	0.16396	0.017;0.006	B;B	0.11329	0.006;0.001	T	0.21724	-1.0237	10	0.35671	T	0.21	.	6.3123	0.21171	0.24:0.0:0.76:0.0	.	90;257	E9PHT3;Q8IYS0	.;GRM1C_HUMAN	N	257;90;52;52	ENSP00000350881:D257N;ENSP00000419132:D90N;ENSP00000408135:D52N	ENSP00000350881:D257N	D	+	1	0	GRAMD1C	115105789	0.935000	0.31712	0.013000	0.15412	0.698000	0.40448	1.780000	0.38634	0.693000	0.31634	0.563000	0.77884	GAT	GRAMD1C-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000354737.1		+	ENST00000472026.1	Missense_Mutation	SNP	3 : 113623099 - 113623099 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	408	64
TMEM95	339168	broad.mit.edu	37	17	7259562	7259562	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7259562G>A	ENST00000389982.4	+	5	458	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	TMEM95_ENST00000576060.1_Missense_Mutation_p.V126M|TMEM95_ENST00000330767.4_Missense_Mutation_p.V134M			Q3KNT9	TMM95_HUMAN	transmembrane protein 95	126						integral to membrane				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				GGGGACGGAGGTGTCCTGCTG	0.687		NA									OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	32	31			NA	NA	17		NA											NA				7259562		2203	4299	6502	SO:0001583	missense				CCDS32546.1	17p13.1	2005-12-15			ENSG00000182896	ENSG00000182896	339168	339168			27898	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_198154	NM_198154	NA	Approved	MGC129793, UNQ9390	uc002ggf.1	Q3KNT9	OTTHUMG00000132899	ENST00000389982.4:c.376G>A	17.37:g.7259562G>A	ENSP00000374632:p.Val126Met	640	B7WPI7|Q6UXT3|Q8IW68	37		.	.	.	.	.	.	.	.	.	.	G	16.04	3.009211	0.54361	.	.	ENSG00000182896	ENST00000389982;ENST00000330767	.	.	.	5.14	4.17	0.49024	.	0.856802	0.09501	N	0.793645	T	0.40448	0.1117	N	0.19112	0.55	0.09310	N	1	P;D;P	0.58620	0.936;0.983;0.936	P;P;P	0.58873	0.73;0.847;0.73	T	0.26155	-1.0111	9	0.62326	D	0.03	.	9.6214	0.39723	0.0945:0.0:0.9055:0.0	.	126;126;134	Q3KNT9;Q3KNT9-3;Q3KNT9-2	TMM95_HUMAN;.;.	M	126;134	.	ENSP00000331466:V134M	V	+	1	0	TMEM95	7200286	0.786000	0.28738	0.023000	0.16930	0.046000	0.14306	4.520000	0.60524	1.410000	0.46936	-0.291000	0.09656	GTG	TMEM95-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000256403.1		+	ENST00000389982.4	Missense_Mutation	SNP	17 : 7259562 - 7259562 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	237	53
SCN8A	6334	broad.mit.edu	37	12	52115445	52115445	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52115445C>T	ENST00000354534.6	+	12	1929	c.1751C>T	c.(1750-1752)gCg>gTg	p.A584V	SCN8A_ENST00000545061.1_Missense_Mutation_p.A584V|SCN8A_ENST00000550891.1_Missense_Mutation_p.A584V	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	NA					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AATGAGTTCGCGGATGACGAG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	18	16			NA	NA	12		NA											NA				52115445		1991	4164	6155	SO:0001583	missense			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876	6334	6334		Sodium channels, Voltage-gated ion channels / Sodium channels	10596	protein-coding gene	gene with protein product		600702	sodium channel, voltage gated, type VIII, alpha polypeptide	MED	NA	7670495, 9828131, 16382098	Standard	NM_014191	NM_014191	NA	Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.1751C>T	12.37:g.52115445C>T	ENSP00000346534:p.Ala584Val	NA	B9VWG8|O95788|Q9NYX2|Q9UPB2	37	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853357	0.91355	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961;ENST00000551216	D;D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99;-4.99	3.83	3.83	0.44106	Domain of unknown function DUF3451 (1);	0.125201	0.53938	D	0.000057	D	0.98966	0.9648	M	0.87827	2.91	0.80722	D	1	D;D;D;D	0.89917	0.994;1.0;0.999;1.0	D;D;D;D	0.97110	0.915;0.944;0.972;1.0	D	0.99414	1.0931	10	0.72032	D	0.01	.	16.3045	0.82842	0.0:1.0:0.0:0.0	.	584;584;584;584	F8VWM7;Q9UQD0-3;F8VRN5;Q9UQD0	.;.;.;SCN8A_HUMAN	V	584;584;584;584;497;382	ENSP00000448415:A584V;ENSP00000346534:A584V;ENSP00000440360:A584V;ENSP00000347255:A584V;ENSP00000447567:A382V	ENSP00000346534:A584V	A	+	2	0	SCN8A	50401712	1.000000	0.71417	0.975000	0.42487	0.818000	0.46254	7.595000	0.82710	2.136000	0.66102	0.467000	0.42956	GCG	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404372.3		+	ENST00000354534.6	Missense_Mutation	SNP	12 : 52115445 - 52115445 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	100	24
CEP152	22995	broad.mit.edu	37	15	49076311	49076311	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49076311T>C	ENST00000380950.2	-	10	1367	c.1180A>G	c.(1180-1182)Att>Gtt	p.I394V	RP11-485O10.2_ENST00000558304.1_RNA|CEP152_ENST00000399334.3_Missense_Mutation_p.I394V|CEP152_ENST00000325747.5_Missense_Mutation_p.I301V	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	394					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CGAGAGCAAATGTCTTCCTAA	0.294		NA											T	3	0.0014	NA	NA	2184	NA	0.9993	,	,	NA	4e-04	0.004	NA	NA	0.0016	0.8156	LOWCOV,EXOME	NA	NA	0.0015	SNP								NA				0								T	VAL/ILE,VAL/ILE	5,3649		0,5,1822	76	68	71		1180,1180	-1.8	0.1	15		71	26,8116		0,26,4045	yes	missense,missense	CEP152	NM_001194998.1,NM_014985.3	29,29	0,31,5867	CC,CT,TT	NA	0.3193,0.1368,0.2628	benign,benign	394/1711,394/1655	49076311	31,11765	1827	4071	5898	SO:0001583	missense			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20					22995	22995			29298	protein-coding gene	gene with protein product	asterless	613529	microcephaly, primary autosomal recessive 4	MCPH4	NA	14654843, 21131973	Standard	NM_014985	NM_014985	NA	Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1180A>G	15.37:g.49076311T>C	ENSP00000370337:p.Ile394Val	NA	Q17RV1|Q6NTA0	37	CCDS58361.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	T	1.159	-0.644461	0.03531	0.001368	0.003193	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.77877	-1.13;-1.13;-1.13	5.35	-1.79	0.07932	.	0.475067	0.22648	N	0.057372	T	0.51584	0.1683	L	0.35288	1.05	0.19945	N	0.999949	B;B;B	0.16603	0.001;0.007;0.018	B;B;B	0.12156	0.001;0.007;0.005	T	0.38436	-0.9661	10	0.02654	T	1	-3.6909	0.3026	0.00275	0.2147:0.2372:0.202:0.346	.	301;394;394	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	V	394;301;394;394	ENSP00000370337:I394V;ENSP00000321000:I301V;ENSP00000382271:I394V	ENSP00000321000:I301V	I	-	1	0	CEP152	46863603	0.004000	0.15560	0.083000	0.20561	0.157000	0.22087	-0.235000	0.09016	-0.233000	0.09797	-1.216000	0.01612	ATT	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417365.1		-	ENST00000380950.2	Missense_Mutation	SNP	15 : 49076311 - 49076311 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	170	38
IMPDH2	3615	broad.mit.edu	37	3	49065268	49065268	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49065268G>A	ENST00000326739.4	-	5	445	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W		NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 2	136	CBS 1.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	AAACCATGCCGGGCCTTGGCC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	62	63			NA	NA	3		NA											NA				49065268		2203	4300	6503	SO:0001583	missense				CCDS2786.1	3p21.2	2014-05-15	2010-04-29		ENSG00000178035	ENSG00000178035	3615	3615	1.1.1.205		6053	protein-coding gene	gene with protein product		146691			NA	9858805, 1969416	Standard		XM_006713128	NA	Approved		uc003cvt.3	P12268	OTTHUMG00000156771	ENST00000326739.4:c.406C>T	3.37:g.49065268G>A	ENSP00000321584:p.Arg136Trp	NA	Q6LEF3	37	CCDS2786.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.65|17.65	3.441663|3.441663	0.63067|0.63067	.|.	.|.	ENSG00000178035|ENSG00000178035	ENST00000429182|ENST00000537036;ENST00000326739;ENST00000442157	.|D;D	.|0.94046	.|-3.34;-3.34	5.83|5.83	3.8|3.8	0.43715|0.43715	.|Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (3);IMP dehydrogenase/GMP reductase (1);	.|0.051772	.|0.85682	.|D	.|0.000000	D|D	0.97049|0.97049	0.9036|0.9036	M|M	0.92880|0.92880	3.355|3.355	0.80722|0.80722	D|D	1|1	.|D	.|0.65815	.|0.995	.|P	.|0.62382	.|0.901	D|D	0.98283|0.98283	1.0509|1.0509	5|10	.|0.87932	.|D	.|0	-10.5572|-10.5572	16.1773|16.1773	0.81862|0.81862	0.0:0.0:0.7394:0.2606|0.0:0.0:0.7394:0.2606	.|.	.|136	.|P12268	.|IMDH2_HUMAN	L|W	67|136;136;111	.|ENSP00000321584:R136W;ENSP00000403502:R111W	.|ENSP00000321584:R136W	P|R	-|-	2|1	0|2	IMPDH2|IMPDH2	49040272|49040272	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.209000|3.209000	0.51122|0.51122	1.404000|1.404000	0.46819|0.46819	0.561000|0.561000	0.74099|0.74099	CCG|CGG	IMPDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345657.1		-	ENST00000326739.4	Missense_Mutation	SNP	3 : 49065268 - 49065268 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	303	63
COL1A2	1278	broad.mit.edu	37	7	94052429	94052429	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94052429C>T	ENST00000297268.6	+	40	3035	c.2564C>T	c.(2563-2565)gCt>gTt	p.A855V		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	855			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GCTGGTACTGCTGTAAGTGAT	0.473		NA								HNSCC(75;0.22)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	100	103			NA	NA	7		NA											NA				94052429		2203	4300	6503	SO:0001630	splice_region_variant			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692	1278	1278		Collagens	2198	protein-coding gene	gene with protein product	alpha 2(I)-collagen, alpha-2 collagen type I, type I procollagen, collagen I, alpha-2 polypeptide, collagen of skin, tendon and bone, alpha-2 chain	120160	osteogenesis imperfecta type IV	OI4	NA	3857213, 2897363	Standard	NM_000089	NM_000089	NA	Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2565+1C>T	7.37:g.94052429C>T		NA	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	37	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.583147	0.65992	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.95821	-3.82	5.32	5.32	0.75619	.	0.258640	0.37530	N	0.002045	D	0.91653	0.7362	N	0.17872	0.535	0.54753	D	0.999987	B	0.10296	0.003	B	0.06405	0.002	D	0.86848	0.2021	10	0.51188	T	0.08	.	19.4034	0.94640	0.0:1.0:0.0:0.0	.	855	P08123	CO1A2_HUMAN	V	855;856	ENSP00000297268:A855V	ENSP00000297268:A855V	A	+	2	0	COL1A2	93890365	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.158000	0.42329	2.662000	0.90505	0.563000	0.77884	GCT	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000309045.2	Missense_Mutation	+	ENST00000297268.6	Splice_Site	SNP	7 : 94052429 - 94052429 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	547	108
SLC20A1	6574	broad.mit.edu	37	2	113416788	113416788	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113416788G>A	ENST00000272542.3	+	8	1595	c.1056G>A	c.(1054-1056)gtG>gtA	p.V352V	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	352					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TAGGTGCAGTGCAGTTGCCTA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	107	108			NA	NA	2		NA											NA				113416788		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136	6574	6574		Solute carriers	10946	protein-coding gene	gene with protein product	gibbon ape leukemia virus receptor 1	137570		GLVR1	NA	8041748	Standard	NM_005415	NM_005415	NA	Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.1056G>A	2.37:g.113416788G>A		NA	Q08344|Q6DHX8|Q9UQ82	37	CCDS2099.1	.	.	.	.	.	.	.	.	.	.	G	0.057	-1.234197	0.01505	.	.	ENSG00000144136	ENST00000433924	.	.	.	5.57	1.5	0.22942	.	.	.	.	.	T	0.55130	0.1901	.	.	.	0.53005	D	0.999962	.	.	.	.	.	.	T	0.45659	-0.9246	4	.	.	.	-12.5585	7.6007	0.28075	0.0769:0.0:0.5076:0.4154	.	.	.	.	T	136	.	.	A	+	1	0	SLC20A1	113133259	0.991000	0.36638	0.997000	0.53966	0.220000	0.24768	0.475000	0.22164	0.300000	0.22699	-0.182000	0.12963	GCA	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254086.2		+	ENST00000272542.3	Silent	SNP	2 : 113416788 - 113416788 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	549	124
MYO18B	84700	broad.mit.edu	37	22	26423431	26423431	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26423431G>T	ENST00000407587.2	+	43	7663	c.7494G>T	c.(7492-7494)gaG>gaT	p.E2498D	MYO18B_ENST00000536101.1_Missense_Mutation_p.E2497D|MYO18B_ENST00000335473.7_Missense_Mutation_p.E2497D			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2497						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGAGCCCGGAGCCCAAGGAGG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	66	64			NA	NA	22		NA											NA				26423431		2008	4152	6160	SO:0001583	missense			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454	84700	84700		Myosins / Myosin superfamily : Class XVIII	18150	protein-coding gene	gene with protein product		607295			NA	12209013, 12547197	Standard	NM_032608	NM_032608	NA	Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.7494G>T	22.37:g.26423431G>T	ENSP00000386096:p.Glu2498Asp	NA	B2RWP3|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.30|16.30	3.083909|3.083909	0.55861|0.55861	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587|ENST00000543971	D;D;D|.	0.89343|.	-2.48;-2.48;-2.5|.	5.17|5.17	1.31|1.31	0.21738|0.21738	.|.	0.589854|.	0.15351|.	N|.	0.266962|.	T|T	0.42743|0.42743	0.1216|0.1216	L|L	0.60455|0.60455	1.87|1.87	0.09310|0.09310	N|N	1|1	D;D;D;D;D|.	0.67145|.	0.988;0.993;0.993;0.996;0.996|.	P;P;P;P;P|.	0.60609|.	0.829;0.757;0.757;0.877;0.877|.	T|T	0.31641|0.31641	-0.9936|-0.9936	10|5	0.54805|.	T|.	0.06|.	.|.	7.0998|7.0998	0.25330|0.25330	0.173:0.2663:0.5607:0.0|0.173:0.2663:0.5607:0.0	.|.	2010;2499;2497;2498;2497|.	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7|.	.;.;MY18B_HUMAN;.;.|.	D|I	2497;2497;2498|447	ENSP00000441229:E2497D;ENSP00000334563:E2497D;ENSP00000386096:E2498D|.	ENSP00000334563:E2497D|.	E|S	+|+	3|2	2|0	MYO18B|MYO18B	24753431|24753431	0.000000|0.000000	0.05858|0.05858	0.031000|0.031000	0.17742|0.17742	0.761000|0.761000	0.43186|0.43186	0.422000|0.422000	0.21296|0.21296	0.537000|0.537000	0.28751|0.28751	0.561000|0.561000	0.74099|0.74099	GAG|AGC	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000400691.1		+	ENST00000407587.2	Missense_Mutation	SNP	22 : 26423431 - 26423431 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	179	45
GPR75-ASB3	100302652	broad.mit.edu	37	2	53977944	53977944	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:53977944C>A	ENST00000263634.3	-	3	465	c.331G>T	c.(331-333)Gaa>Taa	p.E111*	GPR75-ASB3_ENST00000406687.1_Nonsense_Mutation_p.E38*|ASB3_ENST00000406625.2_Nonsense_Mutation_p.E146*|GPR75-ASB3_ENST00000352846.3_Nonsense_Mutation_p.E149*|GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000394717.2_Nonsense_Mutation_p.E38*|ASB3_ENST00000498475.2_Intron	NM_016115.4	NP_057199.1	Q2TAI4	Q2TAI4_HUMAN	GPR75-ASB3 readthrough	146					intracellular signal transduction						NA						GTCGTTTCTTCTAAAGTAGTT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	114	114			NA	NA	2		NA											NA				53977944		2203	4300	6503	SO:0001587	stop_gained				CCDS54361.1	2p16	2013-01-23			ENSG00000115239	ENSG00000115239	100302652	100302652			40043	other	readthrough					NA		Standard		NM_001164165	NA	Approved				OTTHUMG00000129279	ENST00000263634.3:c.331G>T	2.37:g.53977944C>A	ENSP00000263634:p.Glu111*	NA		37	CCDS1846.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.418976|5.418976	0.96092|0.96092	.|.	.|.	ENSG00000115239|ENSG00000115239	ENST00000263634;ENST00000406625;ENST00000406687;ENST00000394717;ENST00000352846;ENST00000446049|ENST00000406053	.|.	.|.	.|.	5.54|5.54	4.67|4.67	0.58626|0.58626	.|.	0.053902|.	0.64402|.	D|.	0.000001|.	.|T	.|0.65144	.|0.2663	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71484	.|-0.4579	.|3	0.18710|.	T|.	0.47|.	-10.4489|-10.4489	14.4565|14.4565	0.67420|0.67420	0.0:0.9283:0.0:0.0717|0.0:0.9283:0.0:0.0717	.|.	.|.	.|.	.|.	X|I	111;146;38;38;149;111|103	.|.	ENSP00000263634:E111X|.	E|R	-|-	1|2	0|0	ASB3|ASB3	53831448|53831448	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.010000|3.010000	0.49559|0.49559	1.486000|1.486000	0.48398|0.48398	0.591000|0.591000	0.81541|0.81541	GAA|AGA	GPR75-ASB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251402.3		-	ENST00000263634.3	Nonsense_Mutation	SNP	2 : 53977944 - 53977944 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	417	57
PRKAR1A	5573	broad.mit.edu	37	17	66533665	66533665	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66533665C>A	ENST00000588188.2	+	9	973				FAM20A_ENST00000592554.1_Missense_Mutation_p.V527L|FAM20A_ENST00000226094.5_5'UTR	NM_001276290.1	NP_001263219.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	NA					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					AACTGTTCCACTGGGCCGTCG	0.572		NA	T, Mis, N, F, S	RET	papillary thyroid	myxoma, endocrine, papillary thyroid			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(167;637 1670 33025 39608 46699 51856)	yes	Dom, Rec	yes	Carney complex	17	17q23-q24	5573	protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)		E, M	0													68	55	59			NA	NA	17		NA											NA				66533665		2203	4300	6503	SO:0001627	intron_variant	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	5573	5573	2.7.11.1		9388	protein-coding gene	gene with protein product	Carney complex type 1	188830	tissue specific extinguisher 1	PRKAR1, TSE1	NA	3479018, 10973256	Standard		NM_212471	NA	Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000588188.2:c.973+7523C>A	17.37:g.66533665C>A		NA	Q567S7	37		.	.	.	.	.	.	.	.	.	.	C	10.54	1.377848	0.24944	.	.	ENSG00000108950	ENST00000226094;ENST00000375556	.	.	.	5.51	1.0	0.19881	.	1.436550	0.03551	N	0.225445	T	0.26991	0.0661	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.15521	-1.0434	9	0.28530	T	0.3	3.9634	3.8588	0.08986	0.1154:0.524:0.1039:0.2567	.	527;382	Q96MK3;B7Z4Y3	FA20A_HUMAN;.	L	527;131	.	ENSP00000226094:V527L	V	-	1	0	FAM20A	64045260	0.000000	0.05858	0.000000	0.03702	0.262000	0.26303	-1.052000	0.03503	0.687000	0.31509	0.484000	0.47621	GTG	PRKAR1A-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000449895.2		+	ENST00000588188.2	Intron	SNP	17 : 66533665 - 66533665 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	77	32
SLC7A13	157724	broad.mit.edu	37	8	87229945	87229945	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:87229945C>T	ENST00000297524.3	-	3	1036	c.933G>A	c.(931-933)tcG>tcA	p.S311S	SLC7A13_ENST00000419776.2_Silent_p.S302S|SLC7A13_ENST00000520624.1_5'UTR	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	311						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ATATTGGTCTCGATGATTTAA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	97	93			NA	NA	8		NA											NA				87229945		2203	4297	6500	SO:0001819	synonymous_variant			AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893	157724	157724		Solute carriers	23092	protein-coding gene	gene with protein product					NA	11907033, 11943479	Standard	NM_138817	XM_005250804	NA	Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.933G>A	8.37:g.87229945C>T		NA	Q05C37|Q08AH9|Q96N84	37	CCDS34917.1																																																																																			SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374704.1		-	ENST00000297524.3	Silent	SNP	8 : 87229945 - 87229945 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	795	126
CDK5RAP1	51654	broad.mit.edu	37	20	31979986	31979986	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31979986C>T	ENST00000357886.4	-	5	659	c.506G>A	c.(505-507)cGg>cAg	p.R169Q	CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.R169Q|CDK5RAP1_ENST00000473997.1_Missense_Mutation_p.R79Q|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R169Q|CDK5RAP1_ENST00000477105.1_5'UTR|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.R169Q			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	169	MTTase N-terminal.				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						GGAGCGGGGCCGCCTTGTCTT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	87	86			NA	NA	20		NA											NA				31979986		2203	4300	6503	SO:0001583	missense			AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391	51654	51654			15880	protein-coding gene	gene with protein product		608200	chromosome 20 open reading frame 34	C20orf34	NA	10721722, 11882646, 15329498	Standard	NM_016408	NM_016408	NA	Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.506G>A	20.37:g.31979986C>T	ENSP00000350558:p.Arg169Gln	NA	A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	37		.	.	.	.	.	.	.	.	.	.	C	24.1	4.491772	0.84962	.	.	ENSG00000101391	ENST00000346416;ENST00000357886;ENST00000339269;ENST00000452723;ENST00000375351;ENST00000544843	.	.	.	5.19	5.19	0.71726	Methylthiotransferase, N-terminal (2);	0.110167	0.64402	D	0.000013	T	0.81245	0.4782	M	0.84773	2.715	0.58432	D	0.999993	B;D;P;P;P;D;P	0.89917	0.256;1.0;0.955;0.955;0.955;0.976;0.857	B;D;B;B;B;B;B	0.83275	0.232;0.996;0.427;0.427;0.427;0.301;0.197	D	0.83688	0.0175	9	0.66056	D	0.02	-18.9715	16.238	0.82389	0.0:1.0:0.0:0.0	.	169;169;169;169;169;169;79	Q675N4;Q96SZ6-4;Q96SZ6;Q675N5;Q53H36;Q96SZ6-3;Q96SZ6-2	.;.;CK5P1_HUMAN;.;.;.;.	Q	169;169;169;79;59;169	.	ENSP00000341840:R169Q	R	-	2	0	CDK5RAP1	31443647	1.000000	0.71417	0.887000	0.34795	0.970000	0.65996	5.288000	0.65651	2.702000	0.92279	0.591000	0.81541	CGG	CDK5RAP1-011	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000078697.1		-	ENST00000357886.4	Missense_Mutation	SNP	20 : 31979986 - 31979986 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	598	84
SACS	26278	broad.mit.edu	37	13	23905023	23905023	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23905023C>T	ENST00000382292.3	-	9	13265	c.12992G>A	c.(12991-12993)cGg>cAg	p.R4331Q	SACS_ENST00000402364.1_Missense_Mutation_p.R3581Q|SACS_ENST00000382298.3_Missense_Mutation_p.R4331Q			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4331	J.		R -> Q (in SACS).		cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAAATACAACCGCCTAATAAT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	121	118			NA	NA	13		NA											NA				23905023		2203	4299	6502	SO:0001583	missense			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835	26278	26278		Heat shock proteins / DNAJ (HSP40)	10519	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 138	604490	spastic ataxia of Charlevoix-Saguenay (sacsin)		NA	10610707, 15057823, 21726565	Standard	NM_014363	NM_001278055	NA	Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.12992G>A	13.37:g.23905023C>T	ENSP00000371729:p.Arg4331Gln	NA	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	33	5.263552	0.95399	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.83335	-1.71;-1.71;-1.71	5.83	5.83	0.93111	Heat shock protein DnaJ, N-terminal (4);	0.000000	0.85682	D	0.000000	D	0.88581	0.6475	L	0.39397	1.21	0.58432	D	0.999998	D	0.89917	1.0	D	0.79108	0.992	D	0.88950	0.3386	10	0.87932	D	0	.	20.1236	0.97970	0.0:1.0:0.0:0.0	.	4331	Q9NZJ4	SACS_HUMAN	Q	4331;3581;4331	ENSP00000371729:R4331Q;ENSP00000385844:R3581Q;ENSP00000371735:R4331Q	ENSP00000371729:R4331Q	R	-	2	0	SACS	22803023	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.814000	0.86154	2.746000	0.94184	0.563000	0.77884	CGG	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044148.3		-	ENST00000382292.3	Missense_Mutation	SNP	13 : 23905023 - 23905023 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1130	151
HECTD2	143279	broad.mit.edu	37	10	93256087	93256087	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93256087C>T	ENST00000298068.5	+	15	1732	c.1638C>T	c.(1636-1638)ggC>ggT	p.G546G	HECTD2_ENST00000371667.1_Silent_p.G196G|HECTD2_ENST00000536715.1_Silent_p.G135G|HECTD2_ENST00000446394.1_Silent_p.G550G	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	546	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						TACCAGTAGGCATCTGCAATG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(12;376 469 1699 39910 41417)							NA				0													158	133	142			NA	NA	10		NA											NA				93256087		2203	4300	6503	SO:0001819	synonymous_variant			AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338	143279	143279			26736	protein-coding gene	gene with protein product			HECT domain containing 2		NA	8619474, 9110174	Standard		NM_001284274	NA	Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.1638C>T	10.37:g.93256087C>T		NA	Q5VZ97|Q5VZ99|Q8TCP5	37	CCDS7414.1																																																																																			HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000098620.1		+	ENST00000298068.5	Silent	SNP	10 : 93256087 - 93256087 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	295	33
C17orf67	339210	broad.mit.edu	37	17	54872520	54872520	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54872520C>T	ENST00000397861.2	-	7	1457	c.178G>A	c.(178-180)Gcc>Acc	p.A60T	C17orf67_ENST00000575658.1_Missense_Mutation_p.A84T|C17orf67_ENST00000397862.2_Missense_Mutation_p.A84T			Q0P5P2	CQ067_HUMAN	chromosome 17 open reading frame 67	84						extracellular region				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7	Breast(9;2.49e-06)					TGCTCCAGGGCGAGCAGGTGG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	91	89			NA	NA	17		NA											NA				54872520		2099	4233	6332	SO:0001583	missense			BC041467	CCDS42364.1, CCDS42364.2	17q23.2	2012-10-11			ENSG00000214226	ENSG00000214226	339210	339210			27900	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_001085430	NM_001085430	NA	Approved		uc002iuq.4	Q0P5P2	OTTHUMG00000132083	ENST00000397861.2:c.178G>A	17.37:g.54872520C>T	ENSP00000380959:p.Ala60Thr	NA		37	CCDS42364.2	.	.	.	.	.	.	.	.	.	.	C	3.782	-0.045429	0.07452	.	.	ENSG00000214226	ENST00000397861;ENST00000397862	.	.	.	4.53	0.192	0.15134	.	1.869520	0.04652	U	0.407337	T	0.25344	0.0616	N	0.14661	0.345	0.23132	N	0.998242	B	0.17465	0.022	B	0.08055	0.003	T	0.17806	-1.0357	9	0.16896	T	0.51	-3.7325	8.1756	0.31281	0.0:0.4148:0.3711:0.2141	.	84	Q0P5P2	CQ067_HUMAN	T	84	.	ENSP00000380959:A84T	A	-	1	0	C17orf67	52227519	0.001000	0.12720	0.927000	0.36925	0.158000	0.22134	0.418000	0.21230	-0.098000	0.12285	-1.008000	0.02478	GCC	C17orf67-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255111.2		-	ENST00000397861.2	Missense_Mutation	SNP	17 : 54872520 - 54872520 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	218	11
PNPT1	87178	broad.mit.edu	37	2	55871818	55871818	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55871818A>T	ENST00000447944.2	-	23	1946	c.1860T>A	c.(1858-1860)ttT>ttA	p.F620L		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	620	KH.				mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAGGTCCAACAAATTTTGCTC	0.333		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	2		NA											NA				55871818		2203	4298	6501	SO:0001583	missense			BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035	87178	87178			23166	protein-coding gene	gene with protein product	polynucleotide phosphorylase, 3'-5' RNA exonuclease	610316	deafness, autosomal recessive 70	DFNB70	NA	12419256	Standard	NM_033109	NM_033109	NA	Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.1860T>A	2.37:g.55871818A>T	ENSP00000400646:p.Phe620Leu	NA	Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	37	CCDS1856.1	.	.	.	.	.	.	.	.	.	.	A	6.372	0.436695	0.12104	.	.	ENSG00000138035	ENST00000447944	T	0.22134	1.97	5.97	3.64	0.41730	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.12050	0.0293	N	0.11427	0.14	0.53005	D	0.999963	B	0.14012	0.009	B	0.23716	0.048	T	0.07809	-1.0753	10	0.87932	D	0	-27.5943	8.8176	0.35004	0.7663:0.0:0.2337:0.0	.	620	Q8TCS8	PNPT1_HUMAN	L	620	ENSP00000400646:F620L	ENSP00000393953:F620L	F	-	3	2	PNPT1	55725322	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	3.121000	0.50438	0.531000	0.28639	-0.250000	0.11733	TTT	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251481.2		-	ENST00000447944.2	Missense_Mutation	SNP	2 : 55871818 - 55871818 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	465	65
ABCC8	6833	broad.mit.edu	37	11	17496471	17496471	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17496471G>A	ENST00000389817.3	-	2	320	c.252C>T	c.(250-252)gtC>gtT	p.V84V	ABCC8_ENST00000302539.4_Silent_p.V84V			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	84					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CACACACCAGGACGAAGAGCA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													215	149	171			NA	NA	11		NA											NA				17496471		2200	4293	6493	SO:0001819	synonymous_variant			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071	6833	6833		ATP binding cassette transporters / subfamily C	59	protein-coding gene	gene with protein product	sulfonylurea receptor (hyperinsulinemia)	600509		SUR, HRINS	NA	7920639, 7716548	Standard	NM_000352	NM_000352	NA	Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.252C>T	11.37:g.17496471G>A		NA	A6NMX8|O75948|Q16583	37	CCDS31437.1																																																																																			ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389093.1		-	ENST00000389817.3	Silent	SNP	11 : 17496471 - 17496471 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	327	56
LYST	1130	broad.mit.edu	37	1	235909723	235909723	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235909723C>T	ENST00000389794.3	-	29	8059	c.7885G>A	c.(7885-7887)Gag>Aag	p.E2629K	LYST_ENST00000389793.2_Missense_Mutation_p.E2629K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2629					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTAGGGTTCTCTTGGCTCATT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	136	146			NA	NA	1		NA											NA				235909723		2203	4300	6503	SO:0001583	missense			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669	1130	1130		WD repeat domain containing	1968	protein-coding gene	gene with protein product		606897	Chediak-Higashi syndrome 1	CHS1	NA	8717042, 8896560	Standard		NM_000081	NA	Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.7885G>A	1.37:g.235909723C>T	ENSP00000374444:p.Glu2629Lys	NA	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763587	0.69878	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.66099	-0.19;-0.19	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.62380	0.2423	M	0.70595	2.14	0.80722	D	1	P	0.38617	0.64	B	0.33960	0.173	T	0.66937	-0.5797	10	0.45353	T	0.12	.	18.7145	0.91670	0.0:1.0:0.0:0.0	.	2629	Q99698	LYST_HUMAN	K	2629	ENSP00000374444:E2629K;ENSP00000374443:E2629K	ENSP00000374443:E2629K	E	-	1	0	LYST	233976346	1.000000	0.71417	0.859000	0.33776	0.424000	0.31475	7.420000	0.80191	2.413000	0.81919	0.591000	0.81541	GAG	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097533.5		-	ENST00000389794.3	Missense_Mutation	SNP	1 : 235909723 - 235909723 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	434	79
ENOX1	55068	broad.mit.edu	37	13	43986165	43986165	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:43986165G>A	ENST00000261488.6	-	5	672	c.95C>T	c.(94-96)gCg>gTg	p.A32V	ENOX1_ENST00000412891.1_Missense_Mutation_p.A32V	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	32					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		CGTGTCTATCGCTATACTCCC	0.488		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	13		NA											NA				43986165		2203	4300	6503	SO:0001583	missense			EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658	55068	55068		RNA binding motif (RRM) containing	25474	protein-coding gene	gene with protein product		610914			NA	11360993	Standard	NM_017993	NM_001127615	NA	Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.95C>T	13.37:g.43986165G>A	ENSP00000261488:p.Ala32Val	NA	A4GU15|A6NMH9|Q2TU81|Q5VT11|Q9NWE0	37	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942219	0.53079	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.47528	0.84;0.84	5.62	5.62	0.85841	.	0.131462	0.51477	D	0.000099	T	0.26846	0.0657	N	0.08118	0	0.80722	D	1	P	0.49253	0.921	B	0.32624	0.149	T	0.19549	-1.0302	10	0.44086	T	0.13	-1.7743	19.0063	0.92852	0.0:0.0:1.0:0.0	.	32	Q8TC92	ENOX1_HUMAN	V	32	ENSP00000261488:A32V;ENSP00000415054:A32V	ENSP00000261488:A32V	A	-	2	0	ENOX1	42884165	1.000000	0.71417	0.958000	0.39756	0.878000	0.50629	4.105000	0.57797	2.809000	0.96659	0.467000	0.42956	GCG	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044717.2		-	ENST00000261488.6	Missense_Mutation	SNP	13 : 43986165 - 43986165 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	46
MAGI1	9223	broad.mit.edu	37	3	65425564	65425564	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:65425564C>T	ENST00000497477.2	-	9	1259	c.1260G>A	c.(1258-1260)caG>caA	p.Q420Q	MAGI1_ENST00000483466.1_Silent_p.Q420Q|MAGI1_ENST00000402939.2_Silent_p.Q420Q|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000330909.8_Silent_p.Q420Q			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	420	Poly-Gln.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CTTCTGTctgctgctgctgct	0.557		NA									OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	62	61			NA	NA	3		NA											NA				65425564		2203	4300	6503	SO:0001819	synonymous_variant			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276	9223	9223			946	protein-coding gene	gene with protein product		602625	BAI1-associated protein 1	BAIAP1	NA	9647739, 9225980	Standard	NM_004742	XM_005265563	NA	Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1260G>A	3.37:g.65425564C>T		1084	O00309|O43863|O75085|Q96QZ8|Q96QZ9	37		.	.	.	.	.	.	.	.	.	.	C	3.594	-0.082995	0.07141	.	.	ENSG00000151276	ENST00000460329	.	.	.	2.99	-2.95	0.05564	.	.	.	.	.	T	0.26011	0.0634	.	.	.	0.30109	N	0.806727	.	.	.	.	.	.	T	0.34650	-0.9820	4	.	.	.	7.9324	3.5147	0.07721	0.1864:0.3158:0.0:0.4978	.	.	.	.	N	301	.	.	S	-	2	0	MAGI1	65400604	0.069000	0.21087	0.269000	0.24586	0.143000	0.21401	-0.541000	0.06099	-0.549000	0.06191	0.454000	0.30748	AGC	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000349132.2		-	ENST00000497477.2	Silent	SNP	3 : 65425564 - 65425564 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	567	24
DOCK7	85440	broad.mit.edu	37	1	62941521	62941521	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:62941521G>A	ENST00000340370.5	-	45	5742	c.5725C>T	c.(5725-5727)Cga>Tga	p.R1909*	DOCK7_ENST00000251157.5_Nonsense_Mutation_p.R1929*|DOCK7_ENST00000489185.1_5'UTR	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1940	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TACATGAATCGACGAAGATTG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	161	163			NA	NA	1		NA											NA				62941521		2203	4299	6502	SO:0001587	stop_gained				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641	85440	85440			19190	protein-coding gene	gene with protein product		615730			NA	12432077	Standard	NM_033407	NM_033407	NA	Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.5725C>T	1.37:g.62941521G>A	ENSP00000340742:p.Arg1909*	NA	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q9C092	37	CCDS30734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	47|47	13.097485|13.097485	0.99719|0.99719	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441|ENST00000454575	.|.	.|.	.|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79598	.|0.4473	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77768	.|-0.2464	.|3	0.02654|.	T|.	1|.	.|.	19.6764|19.6764	0.95936|0.95936	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	1940;1929;1909;670|1102	.|.	ENSP00000251157:R1929X|.	R|S	-|-	1|2	2|0	DOCK7|DOCK7	62714109|62714109	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.922000|0.922000	0.55478|0.55478	8.004000|8.004000	0.88535|0.88535	2.660000|2.660000	0.90430|0.90430	0.655000|0.655000	0.94253|0.94253	CGA|TCG	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000036806.1		-	ENST00000340370.5	Nonsense_Mutation	SNP	1 : 62941521 - 62941521 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	597	61
AKR1CL1	340811	broad.mit.edu	37	10	5203856	5203856	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5203856A>G	ENST00000334314.3	-	3	417	c.341T>C	c.(340-342)gTa>gCa	p.V114A						aldo-keto reductase family 1, member C-like 1	NA										cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GAAGAGATCTACATAGTCCGG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(129;1623 1737 25446 28757 47467)							NA				0													71	72	72			NA	NA	10		NA											NA				5203856		2203	4300	6503	SO:0001583	missense					10p15.2	2014-05-06			ENSG00000196326	ENSG00000264006	340811	340811			23469	protein-coding gene	gene with protein product					NA	15164054	Standard	NR_027916	NR_027916	NA	Approved		uc009xhz.2	Q5T2L2	OTTHUMG00000184213	ENST00000334314.3:c.341T>C	10.37:g.5203856A>G	ENSP00000334626:p.Val114Ala	NA		37		.	.	.	.	.	.	.	.	.	.	A	17.32	3.359581	0.61403	.	.	ENSG00000196326	ENST00000488756;ENST00000334314	T;T	0.56941	0.43;0.43	2.99	2.99	0.34606	.	0.314649	0.22098	U	0.064648	T	0.51075	0.1653	.	.	.	0.22842	N	0.998662	.	.	.	.	.	.	T	0.46414	-0.9193	7	0.62326	D	0.03	.	8.0303	0.30461	1.0:0.0:0.0:0.0	.	.	.	.	A	114	ENSP00000417935:V114A;ENSP00000334626:V114A	ENSP00000334626:V114A	V	-	2	0	AKR1CL1	5193856	0.448000	0.25681	0.041000	0.18516	0.194000	0.23727	4.951000	0.63610	1.333000	0.45449	0.260000	0.18958	GTA	AKR1CL1-201	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding			-	ENST00000334314.3	Missense_Mutation	SNP	10 : 5203856 - 5203856 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	291	70
SLC30A10	55532	broad.mit.edu	37	1	220091645	220091645	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220091645C>T	ENST00000366926.3	-	3	1071	c.910G>A	c.(910-912)Gcc>Acc	p.A304T	SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Missense_Mutation_p.A59T	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	304					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		AGCAGAATGGCAGCGGTCTCC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(76;360 1614 43677 51136)							NA				0													147	150	149			NA	NA	1		NA											NA				220091645		2203	4300	6503	SO:0001583	missense			AY212919	CCDS31026.1	1q41	2013-05-22			ENSG00000196660	ENSG00000196660	55532	55532		Solute carriers	25355	protein-coding gene	gene with protein product	zinc transporter 8	611146			NA	15154973	Standard	NM_018713	NR_046437	NA	Approved	DKFZp547M236, ZnT-10, ZRC1, ZNT8	uc001hlw.3	Q6XR72	OTTHUMG00000037434	ENST00000366926.3:c.910G>A	1.37:g.220091645C>T	ENSP00000355893:p.Ala304Thr	NA	Q49AL9|Q9NPW0	37	CCDS31026.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377786	0.42105	.	.	ENSG00000196660	ENST00000366926;ENST00000536446	T;T	0.63744	-0.06;-0.06	6.01	0.302	0.15786	.	1.253450	0.05112	N	0.489145	T	0.42086	0.1187	N	0.17474	0.49	0.09310	N	1	B	0.16166	0.016	B	0.18871	0.023	T	0.21314	-1.0249	9	.	.	.	-4.4809	3.8409	0.08914	0.46:0.2313:0.0:0.3087	.	304	Q6XR72	ZNT10_HUMAN	T	304;59	ENSP00000355893:A304T;ENSP00000439489:A59T	.	A	-	1	0	SLC30A10	218158268	0.009000	0.17119	0.185000	0.23176	0.988000	0.76386	0.305000	0.19254	0.389000	0.25086	0.585000	0.79938	GCC	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357709.1		-	ENST00000366926.3	Missense_Mutation	SNP	1 : 220091645 - 220091645 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	785	124
MBD5	55777	broad.mit.edu	37	2	149248121	149248121	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149248121C>T	ENST00000407073.1	+	12	5218	c.4221C>T	c.(4219-4221)gaC>gaT	p.D1407D	MBD5_ENST00000404807.1_Silent_p.D1640D	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1407	PWWP.					chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TAAGAGAAGACGACGTTCACA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	74	74			NA	NA	2		NA											NA				149248121		2203	4300	6503	SO:0001819	synonymous_variant			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406	NA	55777			20444	protein-coding gene	gene with protein product		611472			NA	12529184	Standard		NM_018328	NA	Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.4221C>T	2.37:g.149248121C>T		NA	A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	37	CCDS33302.1																																																																																			MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318111.2		+	ENST00000407073.1	Silent	SNP	2 : 149248121 - 149248121 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	419	122
FAM96A	84191	broad.mit.edu	37	15	64380897	64380897	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64380897G>A	ENST00000557835.1	-	2	304	c.278C>T	c.(277-279)gCg>gTg	p.A93V	FAM96A_ENST00000380290.3_Missense_Mutation_p.A93V|FAM96A_ENST00000300030.3_Missense_Mutation_p.A93V|FAM96A_ENST00000559950.1_Missense_Mutation_p.A93V			Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	93					chromosome segregation					kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						AATAAGAGTCGCCAAAGAGCA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	68	70			NA	NA	15		NA											NA				64380897		2203	4300	6503	SO:0001583	missense				CCDS10189.1, CCDS45278.1	15q22.31	2014-01-16			ENSG00000166797	ENSG00000166797	84191	84191			26235	protein-coding gene	gene with protein product					NA	23891004	Standard	NM_032231	NM_032231	NA	Approved	FLJ22875	uc002amt.1	Q9H5X1	OTTHUMG00000132961	ENST00000557835.1:c.278C>T	15.37:g.64380897G>A	ENSP00000454079:p.Ala93Val	NA	B2R5F8	37	CCDS45278.1	.	.	.	.	.	.	.	.	.	.	G	31	5.099840	0.94197	.	.	ENSG00000166797	ENST00000300030;ENST00000380290	.	.	.	5.78	5.78	0.91487	Domain of unknown function DUF59 (1);	0.057092	0.64402	N	0.000001	T	0.79695	0.4490	M	0.76727	2.345	0.80722	D	1	D;P	0.89917	1.0;0.892	D;B	0.91635	0.999;0.201	T	0.80522	-0.1345	9	0.62326	D	0.03	-22.9898	17.573	0.87940	0.0:0.0:1.0:0.0	.	93;93	B7Z8Z5;Q9H5X1	.;FA96A_HUMAN	V	93	.	ENSP00000300030:A93V	A	-	2	0	FAM96A	62167950	1.000000	0.71417	0.979000	0.43373	0.998000	0.95712	9.339000	0.96797	2.735000	0.93741	0.650000	0.86243	GCG	FAM96A-004	KNOWN	alternative_3_UTR|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418553.1		-	ENST00000557835.1	Missense_Mutation	SNP	15 : 64380897 - 64380897 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	162	34
KCNJ4	3761	broad.mit.edu	37	22	38823876	38823876	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38823876C>A	ENST00000303592.3	-	2	520	c.262G>T	c.(262-264)Gag>Tag	p.E88*		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	88					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)					GGGCTGGCCTCCAGGTCACCG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	29	32			NA	NA	22		NA											NA				38823876		2203	4299	6502	SO:0001587	stop_gained			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.262G>T	22.37:g.38823876C>A	ENSP00000306497:p.Glu88*	NA	Q14D44	37	CCDS13971.1	.	.	.	.	.	.	.	.	.	.	C	36	5.695931	0.96802	.	.	ENSG00000168135	ENST00000303592	.	.	.	4.8	4.8	0.61643	.	13.954000	0.01991	U	0.045513	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	13.7734	0.63039	0.0:1.0:0.0:0.0	.	.	.	.	X	88	.	ENSP00000306497:E88X	E	-	1	0	KCNJ4	37153822	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	6.020000	0.70826	2.392000	0.81423	0.555000	0.69702	GAG	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321447.1		-	ENST00000303592.3	Nonsense_Mutation	SNP	22 : 38823876 - 38823876 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	56
SIN3A	25942	broad.mit.edu	37	15	75682033	75682033	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75682033G>T	ENST00000394947.3	-	16	3295	c.2981C>A	c.(2980-2982)gCc>gAc	p.A994D	SIN3A_ENST00000394949.4_Missense_Mutation_p.A994D|SIN3A_ENST00000360439.4_Missense_Mutation_p.A994D	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	994					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CATGGTAAAGGCAATGTAGGC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													220	163	182			NA	NA	15		NA											NA				75682033		2197	4294	6491	SO:0001583	missense			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375	25942	25942			19353	protein-coding gene	gene with protein product		607776	SIN3 homolog A, transcription regulator (yeast), SIN3 transcription regulator homolog A (yeast)		NA	10773092, 7601471	Standard	NM_015477	NM_001145357	NA	Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.2981C>A	15.37:g.75682033G>T	ENSP00000378402:p.Ala994Asp	NA	B2RNS5|Q8N8N4|Q8NC83|Q8WV18|Q96L98|Q9UFQ1	37	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783921	0.90282	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.47869	0.83;0.83;0.83	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.62344	0.2420	M	0.73962	2.25	0.80722	D	1	P	0.49358	0.923	P	0.51615	0.675	T	0.63915	-0.6529	10	0.48119	T	0.1	-15.6064	18.4191	0.90582	0.0:0.0:1.0:0.0	.	994	Q96ST3	SIN3A_HUMAN	D	994	ENSP00000378402:A994D;ENSP00000378403:A994D;ENSP00000353622:A994D	ENSP00000353622:A994D	A	-	2	0	SIN3A	73469086	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.801000	0.85960	2.592000	0.87571	0.650000	0.86243	GCC	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286469.1		-	ENST00000394947.3	Missense_Mutation	SNP	15 : 75682033 - 75682033 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	471	79
TMEM59L	25789	broad.mit.edu	37	19	18724703	18724703	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18724703G>A	ENST00000600490.1	+	3	378	c.193G>A	c.(193-195)Gag>Aag	p.E65K	TMEM59L_ENST00000262817.3_Missense_Mutation_p.E65K			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	65						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						GGGCGCCTCCGAGTCTCCCTA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	43	41			NA	NA	19		NA											NA				18724703		2203	4299	6502	SO:0001583	missense			AF186264	CCDS12383.1	19p12	2008-02-05	2007-03-14	2007-03-14		ENSG00000105696	25789	25789			13237	protein-coding gene	gene with protein product			chromosome 19 open reading frame 4	C19orf4	NA	10527841	Standard		NM_012109	NA	Approved	BSMAP	uc002njy.4	Q9UK28		ENST00000600490.1:c.193G>A	19.37:g.18724703G>A	ENSP00000470879:p.Glu65Lys	NA		37	CCDS12383.1	.	.	.	.	.	.	.	.	.	.	G	8.763	0.924166	0.18056	.	.	ENSG00000105696	ENST00000262817	T	0.43688	0.94	4.14	-0.859	0.10685	.	.	.	.	.	T	0.16896	0.0406	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.30387	-0.9980	9	0.08179	T	0.78	-13.9757	5.8679	0.18786	0.1846:0.2965:0.5188:0.0	.	65	Q9UK28	TM59L_HUMAN	K	65	ENSP00000262817:E65K	ENSP00000262817:E65K	E	+	1	0	TMEM59L	18585703	0.034000	0.19679	0.010000	0.14722	0.278000	0.26855	0.175000	0.16762	0.000000	0.14550	-0.305000	0.09177	GAG	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465143.2		+	ENST00000600490.1	Missense_Mutation	SNP	19 : 18724703 - 18724703 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	655	120
TTN	7273	broad.mit.edu	37	2	179442498	179442498	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179442498C>T	ENST00000589042.1	-	323	68879	c.68655G>A	c.(68653-68655)tcG>tcA	p.S22885S	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Silent_p.S21244S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.S13945S|TTN_ENST00000460472.2_Silent_p.S13820S|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.S20317S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.S14012S|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21244	Fibronectin type-III 66.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCAAGACTTCGAAGGTAGAT	0.393		NA											C	1	5e-04	NA	NA	2184	NA	1	,	,	NA	2e-04	0.0013	NA	NA	5e-04	0.9547	LOWCOV	NA	NA	6e-04	SNP								NA				0													161	141	148			NA	NA	2		NA											NA				179442498		1921	4136	6057	SO:0001819	synonymous_variant			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.68655G>A	2.37:g.179442498C>T		NA	E7ET18	37	CCDS59435.1																																																																																			TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Silent	SNP	2 : 179442498 - 179442498 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	388	119
CFTR	1080	broad.mit.edu	37	7	117304863	117304863	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117304863G>A	ENST00000003084.6	+	25	4217	c.4085G>A	c.(4084-4086)aGt>aAt	p.S1362N	CFTR_ENST00000454343.1_Missense_Mutation_p.S1301N	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1362	ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TCTGTTCTCAGTAAGGCGAAG	0.473		NA							Cystic Fibrosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													239	201	214			NA	NA	7		NA											NA				117304863		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626	1080	1080		Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators, ATP binding cassette transporters / subfamily C	1884	protein-coding gene	gene with protein product	ATP-binding cassette sub-family C, member 7	602421	cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	CF, ABCC7	NA	2772657	Standard	NM_000492	XM_006715842	NA	Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.4085G>A	7.37:g.117304863G>A	ENSP00000003084:p.Ser1362Asn	NA	Q20BG8|Q20BH2|Q2I0A1|Q2I102	37	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064717	0.93898	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.93547	-3.24;-3.24;-3.24	5.87	5.87	0.94306	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.034897	0.85682	D	0.000000	D	0.93582	0.7951	L	0.31926	0.97	0.80722	D	1	P	0.34743	0.466	P	0.48166	0.569	D	0.91839	0.5482	10	0.46703	T	0.11	-7.325	20.5827	0.99408	0.0:0.0:1.0:0.0	.	1362	P13569	CFTR_HUMAN	N	1362;1301;1332	ENSP00000003084:S1362N;ENSP00000403677:S1301N;ENSP00000389119:S1332N	ENSP00000003084:S1362N	S	+	2	0	CFTR	117092099	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.448000	0.80631	2.941000	0.99782	0.655000	0.94253	AGT	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059397.3		+	ENST00000003084.6	Missense_Mutation	SNP	7 : 117304863 - 117304863 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	613	36
NARG2	0	broad.mit.edu	37	15	60748989	60748989	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:60748989A>C	ENST00000261520.4	-	6	767	c.533T>G	c.(532-534)aTt>aGt	p.I178S	NARG2_ENST00000439632.1_Missense_Mutation_p.I41S|NARG2_ENST00000561114.1_Missense_Mutation_p.I178S	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN		178						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						AGCTCTTAAAATTTTCTGAGA	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	50	48			NA	NA	15		NA											NA				60748989		2200	4295	6495	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000261520.4:c.533T>G	15.37:g.60748989A>C	ENSP00000261520:p.Ile178Ser	NA	B2RU08|Q05CT1|Q3B7W6|Q63HP4|Q658Q0|Q68CN8|Q6IPW7|Q6UX23|Q71H65|Q96CY5|Q9HAA2	37	CCDS10176.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.168405	0.38315	.	.	ENSG00000128915	ENST00000261520;ENST00000439632	.	.	.	5.4	5.4	0.78164	.	0.454000	0.25037	N	0.033625	T	0.32436	0.0829	N	0.19112	0.55	0.26481	N	0.975115	B;B	0.27625	0.13;0.183	B;B	0.31812	0.136;0.058	T	0.37009	-0.9724	9	0.72032	D	0.01	-14.449	13.1451	0.59456	1.0:0.0:0.0:0.0	.	41;178	G3V0H6;Q659A1	.;NARG2_HUMAN	S	178;41	.	ENSP00000261520:I178S	I	-	2	0	NARG2	58536281	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	2.967000	0.49216	2.193000	0.70182	0.454000	0.30748	ATT	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256136.1		-	ENST00000261520.4	Missense_Mutation	SNP	15 : 60748989 - 60748989 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	37
ABCC2	1244	broad.mit.edu	37	10	101572802	101572802	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101572802A>C	ENST00000370449.4	+	16	2108	c.1995A>C	c.(1993-1995)caA>caC	p.Q665H		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	665	ABC transporter 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TGGCAGGCCAACTTGTGGCTG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	91	91			NA	NA	10		NA											NA				101572802		2203	4300	6503	SO:0001583	missense			U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839	1244	1244		ATP binding cassette transporters / subfamily C	53	protein-coding gene	gene with protein product		601107	canalicular multispecific organic anion transporter 1	CMOAT	NA	8797578, 9284939	Standard	NM_000392	XM_006717630	NA	Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.1995A>C	10.37:g.101572802A>C	ENSP00000359478:p.Gln665His	NA	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	37	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.813457	0.32053	.	.	ENSG00000023839	ENST00000370449	D	0.94232	-3.38	5.79	-11.6	0.00059	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.582342	0.18986	N	0.125740	D	0.86066	0.5844	M	0.64676	1.99	0.22880	N	0.998617	B	0.06786	0.001	B	0.06405	0.002	T	0.65380	-0.6182	10	0.66056	D	0.02	-0.0442	4.9829	0.14175	0.5568:0.1589:0.1597:0.1246	.	665	Q92887	MRP2_HUMAN	H	665	ENSP00000359478:Q665H	ENSP00000359478:Q665H	Q	+	3	2	ABCC2	101562792	0.000000	0.05858	0.000000	0.03702	0.676000	0.39594	-4.119000	0.00291	-2.567000	0.00470	-0.924000	0.02725	CAA	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049825.1		+	ENST00000370449.4	Missense_Mutation	SNP	10 : 101572802 - 101572802 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	430	15
ZFHX3	463	broad.mit.edu	37	16	72821372	72821372	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72821372C>T	ENST00000268489.5	-	10	11475	c.10803G>A	c.(10801-10803)tcG>tcA	p.S3601S	ZFHX3_ENST00000397992.5_Silent_p.S2687S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3601					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGGCGGCGGCCGACGGGGGAG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	41	41			NA	NA	16		NA											NA				72821372		2198	4300	6498	SO:0001819	synonymous_variant			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836	463	463		Zinc fingers, C2H2-type, Homeoboxes / ZF class	777	protein-coding gene	gene with protein product		104155	AT-binding transcription factor 1	ATBF1	NA	1719379, 7592926	Standard	NM_006885	NM_006885	NA	Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10803G>A	16.37:g.72821372C>T		NA	D3DWS8|O15101|Q13719	37	CCDS10908.1																																																																																			ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269008.1		-	ENST00000268489.5	Silent	SNP	16 : 72821372 - 72821372 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	382	68
S1PR5	53637	broad.mit.edu	37	19	10625429	10625429	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10625429C>T	ENST00000439028.3	-	2	384	c.259G>A	c.(259-261)Gcc>Acc	p.A87T	S1PR5_ENST00000333430.4_Missense_Mutation_p.A87T	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	87						integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						GCGTAGGCGGCGCCTGCCAGC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	23	24			NA	NA	19		NA											NA				10625429		2194	4297	6491	SO:0001583	missense			AK074661	CCDS12240.1	19p13.2	2012-08-08	2008-04-30	2008-04-30		ENSG00000180739	53637	53637		GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate	14299	protein-coding gene	gene with protein product		605146	endothelial differentiation, sphingolipid G-protein-coupled receptor, 8	EDG8	NA	10799507	Standard	NM_030760	NM_030760	NA	Approved	Edg-8	uc002mou.2	Q9H228		ENST00000439028.3:c.259G>A	19.37:g.10625429C>T	ENSP00000416915:p.Ala87Thr	NA	Q6NW11	37	CCDS12240.1	.	.	.	.	.	.	.	.	.	.	c	18.29	3.591210	0.66219	.	.	ENSG00000180739	ENST00000439028;ENST00000333430;ENST00000359134	T;T	0.35973	1.28;1.28	4.14	3.1	0.35709	GPCR, rhodopsin-like superfamily (1);	0.527108	0.17544	N	0.170432	T	0.25344	0.0616	N	0.20986	0.625	0.28383	N	0.919465	P	0.48407	0.91	B	0.42798	0.398	T	0.05099	-1.0906	10	0.33141	T	0.24	.	10.8097	0.46540	0.0:0.9041:0.0:0.0959	.	87	Q9H228	S1PR5_HUMAN	T	87	ENSP00000416915:A87T;ENSP00000328472:A87T	ENSP00000328472:A87T	A	-	1	0	S1PR5	10486429	0.010000	0.17322	0.974000	0.42286	0.462000	0.32619	0.594000	0.24014	0.947000	0.37659	0.306000	0.20318	GCC	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452015.1		-	ENST00000439028.3	Missense_Mutation	SNP	19 : 10625429 - 10625429 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	144	21
EIF4B	1975	broad.mit.edu	37	12	53421816	53421816	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53421816G>T	ENST00000420463.3	+	8	851	c.823G>T	c.(823-825)Ggc>Tgc	p.G275C	RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000262056.9_Missense_Mutation_p.G275C|EIF4B_ENST00000416762.3_Missense_Mutation_p.G236C			P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	275	Arg-rich.|Asp-rich.				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						TTCCCGGATAGGCAGTGGCAG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	92	91			NA	NA	12		NA											NA				53421816		1880	4117	5997	SO:0001583	missense			X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046	1975	1975		RNA binding motif (RRM) containing	3285	protein-coding gene	gene with protein product		603928			NA		Standard	NM_001417	XM_005268709	NA	Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000420463.3:c.823G>T	12.37:g.53421816G>T	ENSP00000388806:p.Gly275Cys	NA	Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	37		.	.	.	.	.	.	.	.	.	.	G	16.72	3.200477	0.58126	.	.	ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000430205;ENST00000416762;ENST00000549481;ENST00000552490	T;T;T;T	0.57907	0.37;0.43;0.47;0.58	4.48	4.48	0.54585	.	0.062947	0.64402	D	0.000005	T	0.69735	0.3144	M	0.65498	2.005	0.51012	D	0.999909	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.996;0.999;0.996	T	0.72462	-0.4286	10	0.59425	D	0.04	.	14.7482	0.69505	0.0:0.0:1.0:0.0	.	236;275;251;275	B4DS13;E7EX17;E7EPC9;P23588	.;.;.;IF4B_HUMAN	C	275;275;251;236;230;229	ENSP00000262056:G275C;ENSP00000388806:G275C;ENSP00000449746:G230C;ENSP00000450324:G229C	ENSP00000262056:G275C	G	+	1	0	EIF4B	51708083	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.337000	0.65941	2.409000	0.81822	0.655000	0.94253	GGC	EIF4B-007	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000404914.1		+	ENST00000420463.3	Missense_Mutation	SNP	12 : 53421816 - 53421816 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	650	29
ZNF804A	91752	broad.mit.edu	37	2	185802746	185802746	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:185802746T>G	ENST00000302277.6	+	4	3217	c.2623T>G	c.(2623-2625)Tta>Gta	p.L875V		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	875						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AACAAACCAATTAAGAAACAA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	80	82			NA	NA	2		NA											NA				185802746		2203	4300	6503	SO:0001583	missense			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396	91752	91752			21711	protein-coding gene	gene with protein product		612282		C2orf10	NA	12970790	Standard	NM_194250	NM_194250	NA	Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2623T>G	2.37:g.185802746T>G	ENSP00000303252:p.Leu875Val	NA	A7E253|Q6ZN26	37	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.259109	0.00021	.	.	ENSG00000170396	ENST00000302277	T	0.05786	3.39	5.42	1.27	0.21489	.	1.099100	0.07006	N	0.824313	T	0.01940	0.0061	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45542	-0.9254	10	0.06625	T	0.88	-1.0291	1.7147	0.02899	0.1615:0.1326:0.4125:0.2934	.	875	Q7Z570	Z804A_HUMAN	V	875	ENSP00000303252:L875V	ENSP00000303252:L875V	L	+	1	2	ZNF804A	185510991	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	0.345000	0.19979	0.234000	0.21139	-0.452000	0.05504	TTA	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255871.1		+	ENST00000302277.6	Missense_Mutation	SNP	2 : 185802746 - 185802746 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	536	43
PLXNA3	55558	broad.mit.edu	37	X	153697552	153697552	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153697552G>A	ENST00000369682.3	+	26	4763	c.4588G>A	c.(4588-4590)Gac>Aac	p.D1530N	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1530					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGAGGACATGGACCTGGGTGA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	59	64			NA	NA	X		NA											NA				153697552		2203	4300	6503	SO:0001583	missense			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827	55558	55558		Plexins	9101	protein-coding gene	gene with protein product		300022		PLXN4	NA	8248200, 8733135	Standard	NM_017514	NM_017514	NA	Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.4588G>A	X.37:g.153697552G>A	ENSP00000358696:p.Asp1530Asn	NA	Q5HY36	37	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722944	0.89298	.	.	ENSG00000130827	ENST00000369682	T	0.13901	2.55	5.35	4.48	0.54585	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.111765	0.64402	D	0.000016	T	0.44973	0.1319	M	0.91717	3.235	0.80722	D	1	D	0.64830	0.994	D	0.70935	0.971	T	0.56715	-0.7933	10	0.87932	D	0	.	13.9752	0.64268	0.0:0.1493:0.8507:0.0	.	1530	P51805	PLXA3_HUMAN	N	1530	ENSP00000358696:D1530N	ENSP00000358696:D1530N	D	+	1	0	PLXNA3	153350746	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.857000	0.99534	1.005000	0.39183	0.597000	0.82753	GAC	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000081634.1		+	ENST00000369682.3	Missense_Mutation	SNP	X : 153697552 - 153697552 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	75
C19orf73	55150	broad.mit.edu	37	19	49621899	49621899	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49621899G>A	ENST00000408991.2	-	1	498	c.381C>T	c.(379-381)ccC>ccT	p.P127P		NM_018111.2	NP_060581.2	Q9NVV2	CS073_HUMAN	chromosome 19 open reading frame 73	127										large_intestine(1)|lung(2)	3						ACTAGTCCGAGGGCGGAGGGC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	59	56			NA	NA	19		NA											NA				49621899		2072	4180	6252	SO:0001819	synonymous_variant			AK001352	CCDS42589.1	19q13.33	2013-06-17			ENSG00000221916	ENSG00000221916	55150	55150			25534	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_018111	NM_018111	NA	Approved	FLJ10490	uc002pmq.4	Q9NVV2	OTTHUMG00000183345	ENST00000408991.2:c.381C>T	19.37:g.49621899G>A		NA	Q6NSX4	37	CCDS42589.1																																																																																			C19orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466275.1		-	ENST00000408991.2	Silent	SNP	19 : 49621899 - 49621899 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	581	22
COL12A1	1303	broad.mit.edu	37	6	75844551	75844551	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:75844551C>A	ENST00000322507.8	-	32	5724	c.5415G>T	c.(5413-5415)caG>caT	p.Q1805H	COL12A1_ENST00000416123.2_Missense_Mutation_p.Q1805H|COL12A1_ENST00000345356.6_Missense_Mutation_p.Q641H|COL12A1_ENST00000483888.2_Missense_Mutation_p.Q1805H	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1805	Fibronectin type-III 13.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCACACTGTTCTGCCGTCCTC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	131	130			NA	NA	6		NA											NA				75844551		1983	4148	6131	SO:0001583	missense			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799	1303	1303		Proteoglycans / Extracellular Matrix : Collagen proteoglycans, Collagens, Fibronectin type III domain containing	2188	protein-coding gene	gene with protein product	collagen type XII proteoglycan	120320	collagen, type XII, alpha 1-like	COL12A1L	NA	9143499	Standard	NM_004370	XM_006715334	NA	Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.5415G>T	6.37:g.75844551C>A	ENSP00000325146:p.Gln1805His	NA	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	37	CCDS43482.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.91|16.91	3.251718|3.251718	0.59212|0.59212	.|.	.|.	ENSG00000111799|ENSG00000111799	ENST00000419671|ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	.|T;T;T;T	.|0.57436	.|0.4;0.4;0.4;0.4	5.8|5.8	3.06|3.06	0.35304|0.35304	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.000000	.|0.64402	.|D	.|0.000004	.|T	.|0.48714	.|0.1515	L|L	0.50993|0.50993	1.605|1.605	0.34862|0.34862	D|D	0.742689|0.742689	.|D;D	.|0.69078	.|0.996;0.997	.|P;D	.|0.64410	.|0.878;0.925	.|T	.|0.49597	.|-0.8923	.|10	.|0.36615	.|T	.|0.2	.|.	10.5114|10.5114	0.44864|0.44864	0.0:0.7372:0.0:0.2628|0.0:0.7372:0.0:0.2628	.|.	.|641;1805	.|Q99715-2;Q99715	.|.;COCA1_HUMAN	X|H	540|1805;1805;641;1805;1805	.|ENSP00000325146:Q1805H;ENSP00000305147:Q641H;ENSP00000412864:Q1805H;ENSP00000421216:Q1805H	.|ENSP00000325146:Q1805H	E|Q	-|-	1|3	0|2	COL12A1|COL12A1	75901271|75901271	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	0.621000|0.621000	0.24418|0.24418	0.805000|0.805000	0.34159|0.34159	0.650000|0.650000	0.86243|0.86243	GAA|CAG	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041249.3		-	ENST00000322507.8	Missense_Mutation	SNP	6 : 75844551 - 75844551 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	393	81
PTPRZ1	5803	broad.mit.edu	37	7	121568253	121568253	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121568253A>C	ENST00000449182.1	+	2	241	c.102A>C	c.(100-102)gaA>gaC	p.E34D	PTPRZ1_ENST00000393386.2_Missense_Mutation_p.E34D	NM_001206839.1	NP_001193768.1	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	34					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AACTTGTTGAAGAGATTGGCT	0.274		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	125	117			NA	NA	7		NA											NA				121568253		2202	4296	6498	SO:0001583	missense			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278	5803	5803		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ	NA	7736789, 8387522	Standard	NM_002851	NM_001206838	NA	Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000449182.1:c.102A>C	7.37:g.121568253A>C	ENSP00000410000:p.Glu34Asp	NA	A4D0W5|O76043|Q9UDR6	37	CCDS56505.1	.	.	.	.	.	.	.	.	.	.	A	15.84	2.950785	0.53186	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.48836	0.82;0.8	5.84	3.49	0.39957	.	0.000000	0.64402	D	0.000007	T	0.51839	0.1698	L	0.29908	0.895	0.25239	N	0.989767	D;D	0.76494	0.994;0.999	D;D	0.78314	0.97;0.991	T	0.39078	-0.9631	10	0.49607	T	0.09	.	8.349	0.32290	0.8468:0.0:0.1532:0.0	.	34;34	C9JFM0;P23471	.;PTPRZ_HUMAN	D	34	ENSP00000377047:E34D;ENSP00000410000:E34D	ENSP00000377047:E34D	E	+	3	2	PTPRZ1	121355489	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.940000	0.49003	0.480000	0.27534	-0.250000	0.11733	GAA	PTPRZ1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347289.1		+	ENST00000449182.1	Missense_Mutation	SNP	7 : 121568253 - 121568253 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	976	161
CAPNS2	84290	broad.mit.edu	37	16	55601237	55601237	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55601237A>G	ENST00000457326.2	+	1	654	c.569A>G	c.(568-570)tAc>tGc	p.Y190C	LPCAT2_ENST00000565056.1_Intron|LPCAT2_ENST00000262134.5_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	190	EF-hand 3.					cytoplasm|plasma membrane	calcium ion binding			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						GAACAACTTTACCAAATGATT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	140	141			NA	NA	16		NA											NA				55601237		1891	4112	6003	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.569A>G	16.37:g.55601237A>G	ENSP00000400882:p.Tyr190Cys	NA	Q9BPV4	37	CCDS54010.1	.	.	.	.	.	.	.	.	.	.	A	11.40	1.627736	0.28978	.	.	ENSG00000256812	ENST00000457326	T	0.47177	0.85	5.98	5.98	0.97165	EF-hand-like domain (1);	.	.	.	.	T	0.42268	0.1195	L	0.42744	1.35	0.09310	N	0.999998	B	0.26809	0.16	B	0.26969	0.075	T	0.40664	-0.9551	9	0.62326	D	0.03	.	11.0497	0.47880	0.923:0.0:0.077:0.0	.	190	Q96L46	CPNS2_HUMAN	C	190	ENSP00000400882:Y190C	ENSP00000400882:Y190C	Y	+	2	0	CAPNS2	54158738	1.000000	0.71417	0.452000	0.26994	0.840000	0.47671	2.419000	0.44671	2.288000	0.76882	0.528000	0.53228	TAC	CAPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396391.1		+	ENST00000457326.2	Missense_Mutation	SNP	16 : 55601237 - 55601237 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	836	27
BOC	91653	broad.mit.edu	37	3	112998114	112998114	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112998114G>T	ENST00000495514.1	+	12	2536	c.1832G>T	c.(1831-1833)aGg>aTg	p.R611M	BOC_ENST00000497495.1_3'UTR|BOC_ENST00000273395.4_Missense_Mutation_p.R612M|BOC_ENST00000355385.3_Missense_Mutation_p.R611M			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	611	Fibronectin type-III 2.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GCTCCCGACAGGCCCACCATC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	60	64			NA	NA	3		NA											NA				112998114		2203	4300	6503	SO:0001583	missense			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857	91653	91653		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	17173	protein-coding gene	gene with protein product	brother of CDO, brother of CDON, cell adhesion associated, oncogene regulated 2	608708	Boc homolog (mouse)		NA	11782431	Standard	NM_033254	NM_033254	NA	Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1832G>T	3.37:g.112998114G>T	ENSP00000418663:p.Arg611Met	NA	A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	37	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402861	0.83230	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.57907	0.37;0.37;0.37	5.55	5.55	0.83447	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.116716	0.64402	D	0.000017	T	0.74764	0.3759	M	0.78285	2.405	0.48236	D	0.999612	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.75473	-0.3305	10	0.51188	T	0.08	.	19.4878	0.95037	0.0:0.0:1.0:0.0	.	612;611	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	M	611;612;611	ENSP00000418663:R611M;ENSP00000273395:R612M;ENSP00000347546:R611M	ENSP00000273395:R612M	R	+	2	0	BOC	114480804	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.240000	0.78192	2.596000	0.87737	0.563000	0.77884	AGG	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354485.3		+	ENST00000495514.1	Missense_Mutation	SNP	3 : 112998114 - 112998114 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	309	43
EIF5B	9669	broad.mit.edu	37	2	99980843	99980843	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99980843G>T	ENST00000289371.6	+	6	1449	c.1247G>T	c.(1246-1248)aGa>aTa	p.R416I		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	NA					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGAGAAGCCAGAGCCAGAGCC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(162;2388 2567 2705 3444)							NA				0													133	134	134			NA	NA	2		NA											NA				99980843		1859	4099	5958	SO:0001583	missense			AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417	9669	9669			30793	protein-coding gene	gene with protein product	translation initiation factor IF2	606086			NA	10200264, 10432305	Standard	NM_015904	XM_005264075	NA	Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.1247G>T	2.37:g.99980843G>T	ENSP00000289371:p.Arg416Ile	NA	O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	37	CCDS42721.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617668	0.87359	.	.	ENSG00000158417	ENST00000289371	T	0.51071	0.72	5.9	4.06	0.47325	.	.	.	.	.	T	0.51244	0.1663	M	0.79926	2.475	0.80722	D	1	P	0.45902	0.868	B	0.42319	0.383	T	0.58070	-0.7701	8	.	.	.	-10.0582	12.1601	0.54099	0.0656:0.1197:0.8148:0.0	.	416	O60841	IF2P_HUMAN	I	416	ENSP00000289371:R416I	.	R	+	2	0	EIF5B	99347275	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.325000	0.65869	1.488000	0.48433	0.650000	0.86243	AGA	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330364.2		+	ENST00000289371.6	Missense_Mutation	SNP	2 : 99980843 - 99980843 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	739	113
CKAP5	9793	broad.mit.edu	37	11	46771875	46771875	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46771875G>A	ENST00000529230.1	-	42	5699	c.5653C>T	c.(5653-5655)Cgg>Tgg	p.R1885W	CKAP5_ENST00000354558.3_Missense_Mutation_p.R1825W|CKAP5_ENST00000312055.5_Missense_Mutation_p.R1825W|CKAP5_ENST00000415402.1_Missense_Mutation_p.R1892W			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1885					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCAATCACCCGAAGGCCTCTT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(4;85 273 2202 4844 13323)							NA				0													110	106	107			NA	NA	11		NA											NA				46771875		2201	4299	6500	SO:0001583	missense				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216	9793	9793			28959	protein-coding gene	gene with protein product		611142			NA	7788527, 8536682	Standard	NM_014756	NM_014756	NA	Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.5653C>T	11.37:g.46771875G>A	ENSP00000432768:p.Arg1885Trp	NA	Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	37	CCDS31477.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.82|19.82	3.899108|3.899108	0.72754|0.72754	.|.	.|.	ENSG00000175216|ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558|ENST00000525896	T;T;T;T|.	0.49720|.	0.8;0.8;0.77;0.77|.	5.58|5.58	4.65|4.65	0.58169|0.58169	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71702|0.71702	0.3371|0.3371	M|M	0.70275|0.70275	2.135|2.135	0.58432|0.58432	D|D	0.99999|0.99999	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.83275|.	0.989;0.996;0.99|.	T|T	0.71777|0.71777	-0.4490|-0.4490	10|5	0.87932|.	D|.	0|.	-20.2111|-20.2111	13.4371|13.4371	0.61090|0.61090	0.0:0.0:0.7143:0.2857|0.0:0.0:0.7143:0.2857	.|.	1892;1825;1885|.	Q14008-3;Q14008-2;Q14008|.	.;.;CKAP5_HUMAN|.	W|L	1885;1892;1825;1825|123	ENSP00000432768:R1885W;ENSP00000395302:R1892W;ENSP00000310227:R1825W;ENSP00000346566:R1825W|.	ENSP00000310227:R1825W|.	R|S	-|-	1|2	2|0	CKAP5|CKAP5	46728451|46728451	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	4.290000|4.290000	0.59019|0.59019	1.336000|1.336000	0.45506|0.45506	0.549000|0.549000	0.68633|0.68633	CGG|TCG	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390679.1		-	ENST00000529230.1	Missense_Mutation	SNP	11 : 46771875 - 46771875 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	505	91
CDK8	1024	broad.mit.edu	37	13	26923313	26923313	+	Silent	SNP	C	C	T	rs67269290		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:26923313C>T	ENST00000381527.3	+	3	812	c.309C>T	c.(307-309)gaC>gaT	p.D103D	CDK8_ENST00000536792.1_Silent_p.D103D	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	103	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		CTGAACATGACCTCTGGGTAA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													186	164	172			NA	NA	13		NA											NA				26923313		2203	4300	6503	SO:0001819	synonymous_variant			X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964	1024	1024		Cyclin-dependent kinases	1779	protein-coding gene	gene with protein product		603184			NA	7568034	Standard		NM_001260	NA	Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.309C>T	13.37:g.26923313C>T		NA	Q5VUF3|Q6ISB5	37	CCDS9317.1																																																																																			CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044250.1		+	ENST00000381527.3	Silent	SNP	13 : 26923313 - 26923313 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	601	27
PLCE1	51196	broad.mit.edu	37	10	96076504	96076504	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96076504C>T	ENST00000371380.3	+	28	6568	c.6333C>T	c.(6331-6333)acC>acT	p.T2111T	PLCE1_ENST00000371385.3_Silent_p.T1803T|NOC3L_ENST00000543788.1_Intron|PLCE1_ENST00000371375.1_Silent_p.T1803T|PLCE1_ENST00000260766.3_Silent_p.T2111T			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	NA	Ras-associating 1.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TCTTAAAAACCCAGCAGGAAG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	69	69			NA	NA	10		NA											NA				96076504		1902	4108	6010	SO:0001819	synonymous_variant				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	51196	51196	3.1.4.11		17175	protein-coding gene	gene with protein product	nephrosis type 3	608414			NA	11022047, 11022048	Standard	NM_016341	NM_016341	NA	Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.6333C>T	10.37:g.96076504C>T		NA	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	37	CCDS41552.1																																																																																			PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049469.3		+	ENST00000371380.3	Silent	SNP	10 : 96076504 - 96076504 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	186	33
ROBO4	54538	broad.mit.edu	37	11	124765734	124765734	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124765734G>A	ENST00000306534.3	-	5	1239	c.754C>T	c.(754-756)Ccg>Tcg	p.P252S	ROBO4_ENST00000526899.1_5'UTR|ROBO4_ENST00000533054.1_Missense_Mutation_p.P107S	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	252	Fibronectin type-III 1.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GCAGGATCCGGGTTCAGCAGT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	76	76			NA	NA	11		NA											NA				124765734		2201	4299	6500	SO:0001583	missense			AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133	54538	54538		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	17985	protein-coding gene	gene with protein product	magic roundabout	607528	roundabout homolog 4 (Drosophila)		NA	11076864	Standard	NM_019055	NM_019055	NA	Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.754C>T	11.37:g.124765734G>A	ENSP00000304945:p.Pro252Ser	NA	A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	37	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	G	8.162	0.789721	0.16258	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.65364	-0.15;0.24	4.96	2.95	0.34219	Fibronectin, type III (2);	0.000000	0.38663	N	0.001609	T	0.46737	0.1408	L	0.51422	1.61	0.09310	N	1	P;P	0.44734	0.763;0.842	B;B	0.36959	0.173;0.237	T	0.36986	-0.9725	10	0.30078	T	0.28	.	5.3735	0.16152	0.1024:0.0:0.685:0.2125	.	142;252	Q8WZ75-3;Q8WZ75	.;ROBO4_HUMAN	S	252;142;107	ENSP00000304945:P252S;ENSP00000437129:P107S	ENSP00000304945:P252S	P	-	1	0	ROBO4	124270944	0.999000	0.42202	0.949000	0.38748	0.042000	0.13812	1.314000	0.33597	1.324000	0.45282	0.561000	0.74099	CCG	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387111.1		-	ENST00000306534.3	Missense_Mutation	SNP	11 : 124765734 - 124765734 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	419	77
PLEC	5339	broad.mit.edu	37	8	145007091	145007091	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145007091T>G	ENST00000322810.4	-	14	2187	c.2018A>C	c.(2017-2019)cAg>cCg	p.Q673P	PLEC_ENST00000356346.3_Missense_Mutation_p.Q522P|PLEC_ENST00000436759.2_Missense_Mutation_p.Q563P|PLEC_ENST00000357649.2_Missense_Mutation_p.Q540P|PLEC_ENST00000354958.2_Missense_Mutation_p.Q514P|PLEC_ENST00000345136.3_Missense_Mutation_p.Q536P|PLEC_ENST00000398774.2_Missense_Mutation_p.Q504P|PLEC_ENST00000354589.3_Missense_Mutation_p.Q536P|PLEC_ENST00000527096.1_Missense_Mutation_p.Q559P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	673	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CACACGGTGCTGGTTCTCCTC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	27	26			NA	NA	8		NA											NA				145007091		2071	4208	6279	SO:0001583	missense			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209	5339	5339			9069	protein-coding gene	gene with protein product		601282	plectin 1, intermediate filament binding protein, 500kD, epidermolysis bullosa simplex 1 (Ogna), plectin 1, intermediate filament binding protein 500kDa	EBS1, PLEC1	NA	8633055, 8696340	Standard	NM_000445	XM_005250976	NA	Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.2018A>C	8.37:g.145007091T>G	ENSP00000323856:p.Gln673Pro	NA	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	T	14.87	2.665375	0.47677	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025	D;D;D;D;D;D;D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41	5.12	5.12	0.69794	.	0.000000	0.64402	U	0.000011	D	0.96605	0.8892	M	0.84082	2.675	0.80722	D	1	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	D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999	D	0.97195	0.9860	10	0.87932	D	0	.	13.8973	0.63781	0.0:0.0:0.0:1.0	.	563;522;514;673;504;536;540;536	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	P	536;540;536;504;673;514;522;563;559;580	ENSP00000344848:Q536P;ENSP00000350277:Q540P;ENSP00000346602:Q536P;ENSP00000381756:Q504P;ENSP00000323856:Q673P;ENSP00000347044:Q514P;ENSP00000348702:Q522P;ENSP00000388180:Q563P;ENSP00000434583:Q559P;ENSP00000437303:Q580P	ENSP00000323856:Q673P	Q	-	2	0	PLEC	145079079	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	5.587000	0.67510	1.936000	0.56123	0.523000	0.50628	CAG	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383281.1		-	ENST00000322810.4	Missense_Mutation	SNP	8 : 145007091 - 145007091 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	217	40
PAX2	5076	broad.mit.edu	37	10	102509502	102509502	+	Splice_Site	SNP	G	G	A	rs74550754		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102509502G>A	ENST00000355243.3	+	2	593		c.e2-1		PAX2_ENST00000428433.1_Splice_Site|PAX2_ENST00000361791.3_Splice_Site|PAX2_ENST00000556085.1_Intron|PAX2_ENST00000553492.1_Intron|PAX2_ENST00000370296.2_Splice_Site	NM_000278.3|NM_003989.3	NP_000269|NP_003980.2	Q02962	PAX2_HUMAN	paired box 2	NA					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TCTCTCCCCAGCAGGGCACGG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	32	31			NA	NA	10		NA											NA				102509502		2197	4284	6481	SO:0001630	splice_region_variant				CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891	5076	5076		Paired boxes, Homeoboxes / PRD class	8616	protein-coding gene	gene with protein product		167409	paired box gene 2		NA	8431641, 7981748	Standard		NM_003990	NA	Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000355243.3:c.44-1G>A	10.37:g.102509502G>A		NA	Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	37	CCDS41561.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.23|19.23	3.787798|3.787798	0.70337|0.70337	.|.	.|.	ENSG00000075891|ENSG00000075891	ENST00000370296;ENST00000428433;ENST00000361791;ENST00000355243;ENST00000427256|ENST00000554172	.|D	.|0.97906	.|-4.6	6.17|6.17	5.27|5.27	0.74061|0.74061	.|.	.|.	.|.	.|.	.|.	.|D	.|0.97952	.|0.9326	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.97814	.|1.0252	.|5	.|.	.|.	.|.	.|.	15.4423|15.4423	0.75195|0.75195	0.0659:0.0:0.9341:0.0|0.0659:0.0:0.9341:0.0	.|.	.|.	.|.	.|.	.|T	-1|19	.|ENSP00000452489:A19T	.|.	.|A	+|+	.|1	.|0	PAX2|PAX2	102499492|102499492	.|.	.|.	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	.|.	.|.	1.627000|1.627000	0.50400|0.50400	0.655000|0.655000	0.94253|0.94253	.|GCA	PAX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049868.2	Intron	+	ENST00000355243.3	Splice_Site	SNP	10 : 102509502 - 102509502 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	430	81
TECTA	7007	broad.mit.edu	37	11	121060582	121060582	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121060582C>A	ENST00000392793.1	+	23	6631	c.6360C>A	c.(6358-6360)agC>agA	p.S2120R	TECTA_ENST00000264037.2_Missense_Mutation_p.S2120R			O75443	TECTA_HUMAN	tectorin alpha	2120					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACGGCAAGAGCTGCAGAGGTA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	79	82			NA	NA	11		NA											NA				121060582		2203	4299	6502	SO:0001583	missense			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927	7007	7007			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21	NA	9503015, 9590290	Standard	NM_005422	NM_005422	NA	Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.6360C>A	11.37:g.121060582C>A	ENSP00000376543:p.Ser2120Arg	NA		37	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902110	0.72754	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	D;D	0.95756	-3.8;-3.8	5.71	3.52	0.40303	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.96408	0.8828	L	0.60957	1.885	0.44337	D	0.997229	D	0.71674	0.998	D	0.78314	0.991	D	0.96201	0.9145	10	0.87932	D	0	.	10.5441	0.45050	0.0:0.7674:0.0:0.2326	.	2120	O75443	TECTA_HUMAN	R	2120	ENSP00000376543:S2120R;ENSP00000264037:S2120R	ENSP00000264037:S2120R	S	+	3	2	TECTA	120565792	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	3.062000	0.49971	1.423000	0.47198	0.561000	0.74099	AGC	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313850.1		+	ENST00000392793.1	Missense_Mutation	SNP	11 : 121060582 - 121060582 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	309	54
IL1RAP	3556	broad.mit.edu	37	3	190326890	190326890	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:190326890T>C	ENST00000412504.2	+	4	709	c.457T>C	c.(457-459)Tat>Cat	p.Y153H	IL1RAP_ENST00000422485.1_Missense_Mutation_p.Y153H|IL1RAP_ENST00000447382.1_Missense_Mutation_p.Y153H|IL1RAP_ENST00000422940.1_Missense_Mutation_p.Y153H|IL1RAP_ENST00000439062.1_Missense_Mutation_p.Y153H|IL1RAP_ENST00000072516.3_Missense_Mutation_p.Y153H|IL1RAP_ENST00000434491.1_Missense_Mutation_p.Y12H|IL1RAP_ENST00000443369.2_Missense_Mutation_p.Y153H|IL1RAP_ENST00000317757.3_Missense_Mutation_p.Y153H			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	153	Ig-like C2-type 2.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		GTATATAGAATATGGCATTCA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	107	107			NA	NA	3		NA											NA				190326890		2203	4300	6503	SO:0001583	missense			AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083	NA	3556		Interleukins and interleukin receptors, Immunoglobulin superfamily / Immunoglobulin-like domain containing	5995	protein-coding gene	gene with protein product		602626			NA	9479509, 9065432	Standard		NM_002182	NA	Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.457T>C	3.37:g.190326890T>C	ENSP00000412053:p.Tyr153His	NA	B1NLD0|D3DNW0|O14915|Q86WJ7	37	CCDS3298.1	.	.	.	.	.	.	.	.	.	.	T	1.520	-0.547035	0.04024	.	.	ENSG00000196083	ENST00000072516;ENST00000443369;ENST00000412504;ENST00000439062;ENST00000447382;ENST00000422485;ENST00000434491;ENST00000422940;ENST00000317757	T;T;T;T;T;T;T;T;T	0.08984	5.29;4.99;5.29;5.29;5.29;3.22;3.03;3.22;4.99	5.58	-6.72	0.01755	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.236230	0.05267	N	0.516779	T	0.03095	0.0091	N	0.08118	0	0.09310	N	0.999999	B;B;B;B	0.11235	0.004;0.001;0.001;0.001	B;B;B;B	0.08055	0.003;0.002;0.003;0.002	T	0.43686	-0.9376	10	0.19147	T	0.46	.	3.3556	0.07168	0.1005:0.3567:0.3054:0.2374	.	12;153;153;153	C9J9W1;Q9NPH3-5;Q9NPH3;Q9NPH3-2	.;.;IL1AP_HUMAN;.	H	153;153;153;153;153;153;12;153;153	ENSP00000072516:Y153H;ENSP00000408893:Y153H;ENSP00000412053:Y153H;ENSP00000401132:Y153H;ENSP00000390541:Y153H;ENSP00000409352:Y153H;ENSP00000391899:Y12H;ENSP00000387371:Y153H;ENSP00000314807:Y153H	ENSP00000072516:Y153H	Y	+	1	0	IL1RAP	191809584	0.551000	0.26497	0.025000	0.17156	0.060000	0.15804	-0.245000	0.08890	-0.731000	0.04862	-0.263000	0.10527	TAT	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343497.1		+	ENST00000412504.2	Missense_Mutation	SNP	3 : 190326890 - 190326890 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	433	75
ZBTB21	49854	broad.mit.edu	37	21	43411126	43411126	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43411126G>T	ENST00000398505.3	-	4	2659	c.2476C>A	c.(2476-2478)Ctt>Att	p.L826I	ZBTB21_ENST00000398499.1_Missense_Mutation_p.L1027I|ZBTB21_ENST00000310826.5_Missense_Mutation_p.L1027I|ZBTB21_ENST00000398511.3_Missense_Mutation_p.L1027I	NM_001098403.1	NP_001091873.1			zinc finger and BTB domain containing 21	NA											NA						TGGTAAAAAAGGGTGTCTGAT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	108	107			NA	NA	21		NA											NA				43411126		2203	4300	6503	SO:0001583	missense			AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276	49854	49854		-, BTB/POZ domain containing, Zinc fingers, C2H2-type	13083	protein-coding gene	gene with protein product			zinc finger protein 295	ZNF295	NA		Standard	NM_020727	NM_020727	NA	Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000398505.3:c.2476C>A	21.37:g.43411126G>T	ENSP00000381517:p.Leu826Ile	NA		37	CCDS42934.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114235	0.77210	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.01629	4.72;4.72;4.72;4.72	5.07	5.07	0.68467	.	0.000000	0.64402	U	0.000011	T	0.06234	0.0161	L	0.29908	0.895	0.54753	D	0.999981	D;D	0.76494	0.998;0.999	D;D	0.83275	0.996;0.991	T	0.53049	-0.8493	10	0.46703	T	0.11	-12.8027	18.454	0.90713	0.0:0.0:1.0:0.0	.	826;1027	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	I	826;1027;1027;1027	ENSP00000381517:L826I;ENSP00000308759:L1027I;ENSP00000381512:L1027I;ENSP00000381523:L1027I	ENSP00000308759:L1027I	L	-	1	0	ZNF295	42284195	1.000000	0.71417	0.412000	0.26496	0.996000	0.88848	6.231000	0.72307	2.353000	0.79882	0.655000	0.94253	CTT	ZBTB21-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195307.1		-	ENST00000398505.3	Missense_Mutation	SNP	21 : 43411126 - 43411126 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	456	97
SLC1A6	6511	broad.mit.edu	37	19	15063766	15063766	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15063766C>T	ENST00000430939.2	-	8	1410	c.1281G>A	c.(1279-1281)acG>acA	p.T427T	SLC1A6_ENST00000600144.1_Silent_p.T413T|SLC1A6_ENST00000221742.3_Silent_p.T491T			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	491					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CAATGATGAGCGTGATGTCTT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													199	150	167			NA	NA	19		NA											NA				15063766		2203	4300	6503	SO:0001819	synonymous_variant				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143	6511	6511		Solute carriers	10944	protein-coding gene	gene with protein product		600637			NA	7791878	Standard	NM_005071	NM_005071	NA	Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000430939.2:c.1281G>A	19.37:g.15063766C>T		NA		37																																																																																				SLC1A6-001	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000466282.1		-	ENST00000430939.2	Silent	SNP	19 : 15063766 - 15063766 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	655	104
BRWD3	254065	broad.mit.edu	37	X	79945476	79945476	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79945476G>A	ENST00000373275.4	-	32	3934	c.3718C>T	c.(3718-3720)Cga>Tga	p.R1240*	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1240								p.R1240*(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CCAATAAATCGAAGTAAGACA	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Nonsense(1)	endometrium(1)											83	70	74			NA	NA	X		NA											NA				79945476		2203	4300	6503	SO:0001587	stop_gained				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288	254065	254065		WD repeat domain containing	17342	protein-coding gene	gene with protein product		300553			NA	15543602, 16094372	Standard	NM_153252	NM_153252	NA	Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.3718C>T	X.37:g.79945476G>A	ENSP00000362372:p.Arg1240*	NA	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	37	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	44	11.213710	0.99531	.	.	ENSG00000165288	ENST00000373275	.	.	.	4.44	3.55	0.40652	.	0.112392	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.701	13.0163	0.58759	0.0:0.0:0.8376:0.1624	.	.	.	.	X	1240	.	.	R	-	1	2	BRWD3	79832132	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.343000	0.79319	0.932000	0.37266	0.594000	0.82650	CGA	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057344.1		-	ENST00000373275.4	Nonsense_Mutation	SNP	X : 79945476 - 79945476 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	146	38
ZC3HAV1	56829	broad.mit.edu	37	7	138768566	138768566	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138768566G>A	ENST00000242351.5	-	3	973	c.657C>T	c.(655-657)tgC>tgT	p.C219C	ZC3HAV1_ENST00000471652.1_Silent_p.C219C|ZC3HAV1_ENST00000464606.1_Silent_p.C219C	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	219					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GCTTGCTGTTGCAGATGTCCT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	67	72			NA	NA	7		NA											NA				138768566		2203	4300	6503	SO:0001819	synonymous_variant			BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939	56829	56829		Zinc fingers, CCCH-type domain containing, Poly (ADP-ribose) polymerases	23721	protein-coding gene	gene with protein product	zinc finger antiviral protein,  CCCH-type zinc finger antiviral protein	607312			NA	12215647, 12851707	Standard	NM_020119	NM_024625	NA	Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.657C>T	7.37:g.138768566G>A		NA	A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	37	CCDS5851.1																																																																																			ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348915.1		-	ENST00000242351.5	Silent	SNP	7 : 138768566 - 138768566 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	412	75
XIRP2	129446	broad.mit.edu	37	2	168100760	168100760	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168100760A>C	ENST00000409195.1	+	9	2947	c.2858A>C	c.(2857-2859)gAa>gCa	p.E953A	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E731A|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E953A|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	778					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CATATCTTTGAATCAAACAAT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	46	46			NA	NA	2		NA											NA				168100760		1843	4084	5927	SO:0001583	missense			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092	129446	129446			14303	protein-coding gene	gene with protein product	myomaxin	609778	cardiomyopathy associated 3	CMYA3	NA	17046827, 12203715, 15454575	Standard	NM_152381	NM_001079810	NA	Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2858A>C	2.37:g.168100760A>C	ENSP00000386840:p.Glu953Ala	NA	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	17.38	3.373911	0.61624	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.15139	2.49;2.49;2.45	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.45337	0.1337	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.43212	-0.9405	10	0.72032	D	0.01	-24.7473	16.3053	0.82846	1.0:0.0:0.0:0.0	.	778;778;731	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	A	953;953;731	ENSP00000386840:E953A;ENSP00000295237:E953A;ENSP00000387255:E731A	ENSP00000295237:E953A	E	+	2	0	XIRP2	167809006	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	8.962000	0.93254	2.333000	0.79357	0.533000	0.62120	GAA	XIRP2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333547.1		+	ENST00000409195.1	Missense_Mutation	SNP	2 : 168100760 - 168100760 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	328	50
LRRC66	339977	broad.mit.edu	37	4	52861802	52861802	+	Missense_Mutation	SNP	C	C	A	rs141259484	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52861802C>A	ENST00000343457.3	-	4	1392	c.1386G>T	c.(1384-1386)caG>caT	p.Q462H		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	462						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GTGGGTGTGGCTGTGTCACCC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	88	86			NA	NA	4		NA											NA				52861802		2030	4175	6205	SO:0001583	missense			BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993	339977	339977			34299	protein-coding gene	gene with protein product					NA		Standard	NM_001024611	XM_005265739	NA	Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1386G>T	4.37:g.52861802C>A	ENSP00000341944:p.Gln462His	NA		37	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513089	0.27123	.	.	ENSG00000188993	ENST00000343457	T	0.28255	1.62	2.99	2.14	0.27477	.	0.859774	0.09688	N	0.768846	T	0.15609	0.0376	N	0.14661	0.345	0.09310	N	1	P	0.52316	0.952	B	0.39660	0.306	T	0.10706	-1.0618	10	0.59425	D	0.04	-0.0013	3.7545	0.08579	0.2394:0.6286:0.0:0.132	.	462	Q68CR7	LRC66_HUMAN	H	462	ENSP00000341944:Q462H	ENSP00000341944:Q462H	Q	-	3	2	LRRC66	52556559	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.063000	0.11655	0.834000	0.34852	0.467000	0.42956	CAG	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361473.1		-	ENST00000343457.3	Missense_Mutation	SNP	4 : 52861802 - 52861802 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	559	108
ST8SIA1	6489	broad.mit.edu	37	12	22486947	22486947	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:22486947C>T	ENST00000404299.3	-	1	687	c.220G>A	c.(220-222)Gcg>Acg	p.A74T	ST8SIA1_ENST00000381424.3_Missense_Mutation_p.A74T|ST8SIA1_ENST00000396037.4_Missense_Mutation_p.A74T|ST8SIA1_ENST00000539510.1_5'UTR|ST8SIA1_ENST00000536558.1_Intron			Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	74					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						GCTCTGGCCGCGGTCTGGTTC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	59	59			NA	NA	12		NA											NA				22486947		2203	4300	6503	SO:0001583	missense			L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	6489	6489	2.4.99.8	Sialyltransferases	10869	protein-coding gene	gene with protein product	ST8Sia I	601123	sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A	SIAT8, SIAT8A	NA	7901202	Standard	NM_003034	NM_003034	NA	Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000404299.3:c.220G>A	12.37:g.22486947C>T	ENSP00000384467:p.Ala74Thr	NA	A8K4H6|Q17RL0|Q93064	37		.	.	.	.	.	.	.	.	.	.	C	13.89	2.371959	0.42003	.	.	ENSG00000111728	ENST00000396037;ENST00000541868;ENST00000404299;ENST00000381424	T;T	0.66460	-0.21;-0.21	4.45	3.53	0.40419	.	0.118546	0.56097	D	0.000031	T	0.55242	0.1908	L	0.48642	1.525	0.80722	D	1	P	0.42248	0.774	B	0.35312	0.2	T	0.59188	-0.7501	10	0.56958	D	0.05	-7.0017	11.121	0.48289	0.192:0.808:0.0:0.0	.	74	Q92185	SIA8A_HUMAN	T	74;51;74;74	ENSP00000379353:A74T;ENSP00000440292:A51T	ENSP00000261197:A74T	A	-	1	0	ST8SIA1	22378214	0.999000	0.42202	0.979000	0.43373	0.973000	0.67179	4.695000	0.61767	1.131000	0.42111	0.563000	0.77884	GCG	ST8SIA1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000402252.1		-	ENST00000404299.3	Missense_Mutation	SNP	12 : 22486947 - 22486947 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	472	93
EML3	256364	broad.mit.edu	37	11	62373565	62373565	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62373565C>T	ENST00000394773.2	-	13	1933	c.1626G>A	c.(1624-1626)ggG>ggA	p.G542G	EML3_ENST00000529309.1_Silent_p.G542G|EML3_ENST00000531557.1_Silent_p.G325G|EML3_ENST00000438258.1_5'UTR|EML3_ENST00000494176.2_Silent_p.G514G|EML3_ENST00000278845.4_Silent_p.G543G	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	542						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCAACCCGGGCCCCCACTGTA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	68	62			NA	NA	11		NA											NA				62373565		2202	4297	6499	SO:0001819	synonymous_variant			AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499	256364	256364		WD repeat domain containing	26666	protein-coding gene	gene with protein product					NA	15225882, 14744259	Standard	NM_153265	NM_153265	NA	Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.1626G>A	11.37:g.62373565C>T		NA	Q6ZQW7|Q8NA55	37	CCDS8023.2	.	.	.	.	.	.	.	.	.	.	C	9.307	1.054592	0.19907	.	.	ENSG00000149499	ENST00000394776	.	.	.	5.25	3.26	0.37387	.	.	.	.	.	T	0.55016	0.1894	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50684	-0.8799	4	.	.	.	-19.5332	6.4573	0.21936	0.0:0.7179:0.1841:0.098	.	.	.	.	T	537	.	.	A	-	1	0	EML3	62130141	1.000000	0.71417	0.991000	0.47740	0.896000	0.52359	0.880000	0.28159	1.208000	0.43306	0.467000	0.42956	GCC	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313432.1		-	ENST00000394773.2	Silent	SNP	11 : 62373565 - 62373565 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1316	195
PDE6A	5145	broad.mit.edu	37	5	149310693	149310693	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149310693A>C	ENST00000255266.5	-	4	875	c.756T>G	c.(754-756)ctT>ctG	p.L252L		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	252					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CGATGTCCGTAAGTTCTTCAA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	118	128			NA	NA	5		NA											NA				149310693		2203	4300	6503	SO:0001819	synonymous_variant				CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	5145	5145	3.1.4.17	Phosphodiesterases	8785	protein-coding gene	gene with protein product		180071		PDEA	NA	2155175	Standard		NM_000440	NA	Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.756T>G	5.37:g.149310693A>C		NA	Q0P638	37	CCDS4299.1																																																																																			PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252326.2		-	ENST00000255266.5	Silent	SNP	5 : 149310693 - 149310693 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	398	60
TNFSF13	8741	broad.mit.edu	37	17	7463427	7463427	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7463427G>T	ENST00000349228.4	+	3	963	c.399G>T	c.(397-399)caG>caT	p.Q133H	TNFSF12_ENST00000557233.1_Missense_Mutation_p.Q229H|TNFSF13_ENST00000380535.4_Missense_Mutation_p.Q121H|TNFSF13_ENST00000396545.4_Missense_Mutation_p.Q149H|TNFSF13_ENST00000396542.1_Missense_Mutation_p.Q104H|TNFSF13_ENST00000338784.4_Missense_Mutation_p.Q149H|TNFSF12-TNFSF13_ENST00000293826.4_Missense_Mutation_p.Q229H|TNFSF13_ENST00000483039.1_Missense_Mutation_p.Q13H	NM_172087.2	NP_742084.1			tumor necrosis factor (ligand) superfamily, member 13	NA										large_intestine(2)|lung(2)|skin(1)	5		Prostate(122;0.157)				GAGGCCTACAGGCCCAAGGAT	0.552		NA									OREG0024138	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	114	116			NA	NA	17		NA											NA				7463427		2203	4300	6503	SO:0001583	missense			AF046888	CCDS11111.1, CCDS11112.1, CCDS42256.1, CCDS56019.1, CCDS73957.1	17p13.1	2007-07-23			ENSG00000161955	ENSG00000161955	8741	8741		Tumor necrosis factor (ligand) superfamily, CD molecules	11928	protein-coding gene	gene with protein product		604472			NA	9743536	Standard	NM_003808	NM_172088	NA	Approved	APRIL, CD256		O75888	OTTHUMG00000108145	ENST00000349228.4:c.399G>T	17.37:g.7463427G>T	ENSP00000314455:p.Gln133His	641		37	CCDS11112.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.761740	0.31228	.	.	ENSG00000239697;ENSG00000248871;ENSG00000161955;ENSG00000161955;ENSG00000161955;ENSG00000161955;ENSG00000161955;ENSG00000161955;ENSG00000161955	ENST00000557233;ENST00000293826;ENST00000396542;ENST00000438470;ENST00000436057;ENST00000349228;ENST00000338784;ENST00000380535;ENST00000396545	D;D;D;T;T;D;D;D;D	0.94758	-3.51;-3.51;-3.51;1.42;1.4;-3.51;-3.51;-3.51;-3.51	5.15	2.77	0.32553	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.313785	0.36167	N	0.002755	D	0.93096	0.7802	L	0.39898	1.24	0.31543	N	0.659642	P;P;P;P;P;P	0.51147	0.808;0.808;0.606;0.808;0.883;0.942	P;P;P;P;P;P	0.54312	0.567;0.567;0.526;0.748;0.632;0.692	D	0.91391	0.5135	10	0.40728	T	0.16	-9.5232	10.0629	0.42286	0.1955:0.0:0.8045:0.0	.	121;122;133;149;149;229	B4DVT2;Q2QBA2;O75888-2;O75888;O75888-3;Q8IZK7	.;.;.;TNF13_HUMAN;.;.	H	229;229;104;116;132;133;149;121;149	ENSP00000451451:Q229H;ENSP00000293826:Q229H;ENSP00000379792:Q104H;ENSP00000390771:Q116H;ENSP00000410094:Q132H;ENSP00000314455:Q133H;ENSP00000343505:Q149H;ENSP00000369908:Q121H;ENSP00000379794:Q149H	ENSP00000293826:Q229H	Q	+	3	2	TNFSF13;TNFSF12-TNFSF13;TNFSF12	7404151	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	1.762000	0.38451	1.163000	0.42636	-0.291000	0.09656	CAG	TNFSF13-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268797.1		+	ENST00000349228.4	Missense_Mutation	SNP	17 : 7463427 - 7463427 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	607	20
AIRE	326	broad.mit.edu	37	21	45713671	45713671	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45713671G>T	ENST00000291582.5	+	11	1405		c.e11-1		AIRE_ENST00000355347.4_Splice_Site|AIRE_ENST00000329347.4_Splice_Site	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	NA					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GCCTCCCACAGAACCTGGCTC	0.692		NA							Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	43	44			NA	NA	21		NA											NA				45713671		2199	4295	6494	SO:0001630	splice_region_variant	Familial Cancer Database	APECED	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224	326	326		Zinc fingers, PHD-type	360	protein-coding gene	gene with protein product	autoimmune polyendocrinopathy candidiasis ectodermal dystrophy	607358	autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)	APECED	NA	9398840	Standard		NM_000383	NA	Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.1279-1G>T	21.37:g.45713671G>T		NA	O43922|O43932|O75745	37	CCDS13706.1	.	.	.	.	.	.	.	.	.	.	G	9.548	1.115223	0.20795	.	.	ENSG00000160224	ENST00000291582;ENST00000337909;ENST00000397994;ENST00000355347;ENST00000329347	.	.	.	3.41	2.52	0.30459	.	.	.	.	.	.	.	.	.	.	.	0.45194	D	0.998207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.2727	0.26266	0.1343:0.0:0.8657:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AIRE	44538099	0.440000	0.25618	0.153000	0.22517	0.004000	0.04260	2.223000	0.42936	0.737000	0.32582	-0.350000	0.07774	.	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195842.2	Intron	+	ENST00000291582.5	Splice_Site	SNP	21 : 45713671 - 45713671 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	314	35
TNR	7143	broad.mit.edu	37	1	175335086	175335086	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175335086C>T	ENST00000367674.2	-	11	2950	c.2242G>A	c.(2242-2244)Gca>Aca	p.A748T	TNR_ENST00000263525.2_Missense_Mutation_p.A748T			Q92752	TENR_HUMAN	tenascin R	NA	Fibronectin type-III 5.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ATGTACTCTGCCCCAGGCTCT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	153	157			NA	NA	1		NA											NA				175335086		2203	4300	6503	SO:0001583	missense			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147	7143	7143		Fibrinogen C domain containing, Fibronectin type III domain containing	11953	protein-coding gene	gene with protein product	restrictin, janusin	601995			NA	8626505, 8940128	Standard	NM_003285	NM_003285	NA	Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2242G>A	1.37:g.175335086C>T	ENSP00000356646:p.Ala748Thr	NA	C9J563|Q15568|Q5R3G0	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	7.887	0.731404	0.15507	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.49139	0.79;0.79	5.95	3.88	0.44766	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.054165	0.64402	D	0.000001	T	0.09686	0.0238	N	0.00202	-1.86	0.36312	D	0.857685	B	0.02656	0.0	B	0.06405	0.002	T	0.29150	-1.0021	10	0.02654	T	1	.	4.424	0.11495	0.0:0.5736:0.0:0.4264	.	748	Q92752	TENR_HUMAN	T	748	ENSP00000356646:A748T;ENSP00000263525:A748T	ENSP00000263525:A748T	A	-	1	0	TNR	173601709	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	3.815000	0.55651	1.514000	0.48869	0.650000	0.86243	GCA	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084414.4		-	ENST00000367674.2	Missense_Mutation	SNP	1 : 175335086 - 175335086 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	532	134
PCMTD2	55251	broad.mit.edu	37	20	62895791	62895791	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62895791G>A	ENST00000308824.6	+	3	444	c.317G>A	c.(316-318)gGt>gAt	p.G106D	PCMTD2_ENST00000369758.4_Missense_Mutation_p.G106D|PCMTD2_ENST00000609372.1_Intron|PCMTD2_ENST00000299468.7_Missense_Mutation_p.G106D	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	106						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGTCCTTTTGGTGTGAACCAT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	114	121			NA	NA	20		NA											NA				62895791		2203	4300	6503	SO:0001583	missense			AK001745	CCDS13559.1, CCDS46631.1	20q13.33	2012-10-02	2005-10-06	2005-10-06	ENSG00000203880	ENSG00000203880	55251	55251			15882	protein-coding gene	gene with protein product			chromosome 20 open reading frame 36	C20orf36	NA		Standard	NM_018257	NM_018257	NA	Approved	FLJ10883	uc002yil.4	Q9NV79	OTTHUMG00000033029	ENST00000308824.6:c.317G>A	20.37:g.62895791G>A	ENSP00000307854:p.Gly106Asp	NA	E1P5H3|Q8IW60|Q9H4K2	37	CCDS13559.1	.	.	.	.	.	.	.	.	.	.	.	23.6	4.439190	0.83885	.	.	ENSG00000203880	ENST00000369758;ENST00000299468;ENST00000308824	T;T;T	0.53857	0.6;0.6;0.6	5.49	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.73032	0.3535	M	0.82132	2.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.77161	-0.2689	10	0.87932	D	0	-32.6802	14.6817	0.69023	0.0711:0.0:0.9289:0.0	.	106;106	Q9NV79-2;Q9NV79	.;PCMD2_HUMAN	D	106	ENSP00000358773:G106D;ENSP00000299468:G106D;ENSP00000307854:G106D	ENSP00000299468:G106D	G	+	2	0	PCMTD2	62366235	1.000000	0.71417	0.994000	0.49952	0.859000	0.49053	8.896000	0.92521	2.589000	0.87451	0.655000	0.94253	GGT	PCMTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080301.1		+	ENST00000308824.6	Missense_Mutation	SNP	20 : 62895791 - 62895791 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	268	47
ROBO2	6092	broad.mit.edu	37	3	77645811	77645811	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:77645811C>T	ENST00000332191.8	+	19	2820	c.2764C>T	c.(2764-2766)Cca>Tca	p.P922S	ROBO2_ENST00000461745.1_Missense_Mutation_p.P922S|ROBO2_ENST00000487694.3_Missense_Mutation_p.P938S			Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	922					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCCCAGCTATCCATGGCTTGC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	133	135			NA	NA	3		NA											NA				77645811		1860	4110	5970	SO:0001583	missense			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008	6092	6092		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	10250	protein-coding gene	gene with protein product		602431	roundabout (axon guidance receptor, Drosophila) homolog 2		NA	9458045	Standard	XM_031246	NM_002942	NA	Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000332191.8:c.2764C>T	3.37:g.77645811C>T	ENSP00000327536:p.Pro922Ser	NA	O43608|Q19AB4	37		.	.	.	.	.	.	.	.	.	.	C	21.7	4.182120	0.78677	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.67698	-0.28;-0.24;-0.18	6.16	6.16	0.99307	.	0.000000	0.45606	D	0.000341	D	0.83422	0.5251	M	0.76838	2.35	0.32123	N	0.587765	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.987	T	0.81420	-0.0941	9	0.46703	T	0.11	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	938;922;922	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	S	938;938;942;922;922	ENSP00000417335:P938S;ENSP00000417164:P922S;ENSP00000327536:P922S	ENSP00000327536:P922S	P	+	1	0	ROBO2	77728501	1.000000	0.71417	0.990000	0.47175	0.906000	0.53458	7.270000	0.78493	2.937000	0.99478	0.650000	0.86243	CCA	ROBO2-003	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000352601.1		+	ENST00000332191.8	Missense_Mutation	SNP	3 : 77645811 - 77645811 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	758	139
FAM46B	115572	broad.mit.edu	37	1	27333276	27333276	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27333276A>G	ENST00000289166.5	-	2	602	c.437T>C	c.(436-438)gTg>gCg	p.V146A		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	146										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		GGCCAGCACCACTGCCTTGGT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	98	102			NA	NA	1		NA											NA				27333276		2203	4300	6503	SO:0001583	missense			AK122816	CCDS294.2	1p35.3	2008-02-05			ENSG00000158246	ENSG00000158246	115572	115572			28273	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_052943	NM_052943	NA	Approved	MGC16491	uc010ofj.2	Q96A09	OTTHUMG00000004278	ENST00000289166.5:c.437T>C	1.37:g.27333276A>G	ENSP00000289166:p.Val146Ala	NA		37	CCDS294.2	.	.	.	.	.	.	.	.	.	.	A	8.981	0.975371	0.18736	.	.	ENSG00000158246	ENST00000289166	T	0.24350	1.86	5.33	4.19	0.49359	Domain of unknown function DUF1693 (1);	0.114322	0.64402	D	0.000013	T	0.12220	0.0297	N	0.12746	0.255	0.50171	D	0.999854	B	0.14438	0.01	B	0.25405	0.06	T	0.09952	-1.0651	10	0.07175	T	0.84	-34.6345	8.621	0.33861	0.847:0.0:0.153:0.0	.	146	Q96A09	FA46B_HUMAN	A	146	ENSP00000289166:V146A	ENSP00000289166:V146A	V	-	2	0	FAM46B	27205863	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.202000	0.65169	2.232000	0.73038	0.533000	0.62120	GTG	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000012347.2		-	ENST00000289166.5	Missense_Mutation	SNP	1 : 27333276 - 27333276 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	436	118
PHF2	5253	broad.mit.edu	37	9	96392276	96392276	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96392276G>A	ENST00000359246.4	+	2	490	c.123G>A	c.(121-123)gaG>gaA	p.E41E	PHF2_ENST00000375376.4_Silent_p.E41E	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	41				FMIECDACKDWFHGSCVGVEEEE -> PRAARPPARPGPTR AAQRRGRAT (in Ref. 2; BAA31637).	liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		AAGAGGAGGAGGCGCCCGACA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	129	138			NA	NA	9		NA											NA				96392276		2203	4300	6503	SO:0001819	synonymous_variant			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724	5253	5253		Chromatin-modifying enzymes / K-demethylases, Zinc fingers, PHD-type	8920	protein-coding gene	gene with protein product	jumonji C domain-containing histone demethylase 1E, centromere protein 35	604351			NA	10051327, 20129925	Standard	NM_005392	NM_005392	NA	Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.123G>A	9.37:g.96392276G>A		NA	Q4VXG0|Q8N3K2|Q9Y6N4	37	CCDS35069.1																																																																																			PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053162.1		+	ENST00000359246.4	Silent	SNP	9 : 96392276 - 96392276 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	570	78
DSE	29940	broad.mit.edu	37	6	116579730	116579730	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116579730G>T	ENST00000540275.1	+	2	245	c.124G>T	c.(124-126)Gcc>Tcc	p.A42S				Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	0					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		AGTTGGAGGAGCCCTTGGCAG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	29940	29940	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	squamous cell carcinoma antigen recognized by T cells 2	SART2	NA	11920522, 16505484	Standard	NM_013352	NM_001080976	NA	Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000540275.1:c.124G>T	6.37:g.116579730G>T	ENSP00000446378:p.Ala42Ser	NA	Q5R3K6	37		.	.	.	.	.	.	.	.	.	.	G	11.88	1.770961	0.31320	.	.	ENSG00000111817	ENST00000540275	.	.	.	2.61	-0.625	0.11548	.	.	.	.	.	T	0.40791	0.1131	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46498	-0.9187	5	0.87932	D	0	.	2.6014	0.04867	0.4093:0.0:0.3752:0.2156	.	.	.	.	S	42	.	ENSP00000446378:A42S	A	+	1	0	DSE	116686423	1.000000	0.71417	0.943000	0.38184	0.984000	0.73092	0.390000	0.20768	-0.303000	0.08856	0.420000	0.28162	GCC	DSE-203	KNOWN	basic	protein_coding	NA	protein_coding			+	ENST00000540275.1	Missense_Mutation	SNP	6 : 116579730 - 116579730 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	232	23
SALL3	27164	broad.mit.edu	37	18	76757124	76757124	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:76757124C>T	ENST00000536229.3	+	3	3799	c.3090C>T	c.(3088-3090)aaC>aaT	p.N1030N	SALL3_ENST00000537592.2_Silent_p.N1235N|SALL3_ENST00000575389.2_Silent_p.N1163N			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCATCCAGAACGGCGGCATCC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4405	2.1+/-5.4	0,1,2202	107	99	102		3705	-6.6	0.3	18		102	0,8600		0,0,4300	no	coding-synonymous	SALL3	NM_171999.2		0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077		1235/1301	76757124	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463	27164	27164		Zinc fingers, C2H2-type	10527	protein-coding gene	gene with protein product		605079	sal (Drosophila)-like 3, sal-like 3 (Drosophila)		NA	10610715	Standard	NM_171999	NM_171999	NA	Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000536229.3:c.3090C>T	18.37:g.76757124C>T		NA	Q9UGH1	37																																																																																				SALL3-006	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000446094.1		+	ENST00000536229.3	Silent	SNP	18 : 76757124 - 76757124 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	941	192
JAM2	58494	broad.mit.edu	37	21	27066137	27066137	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27066137C>T	ENST00000480456.1	+	4	861	c.311C>T	c.(310-312)gCg>gTg	p.A104V	JAM2_ENST00000400532.1_Missense_Mutation_p.A104V|JAM2_ENST00000425221.2_Missense_Mutation_p.A68V|JAM2_ENST00000312957.5_Missense_Mutation_p.A104V	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	104	Ig-like V-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		p.A104V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						AGAAGTGATGCGGGGAAATAT	0.388		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)						C	VAL/ALA	3,3919		0,3,1958	167	168	167		311	5.6	1	21		167	0,8280		0,0,4140	no	missense	JAM2	NM_021219.2	64	0,3,6098	TT,TC,CC	NA	0.0,0.0765,0.0246	probably-damaging	104/299	27066137	3,12199	1961	4140	6101	SO:0001583	missense			AF255910	CCDS42911.1, CCDS58787.1, CCDS58788.1	21q21.2	2013-01-11			ENSG00000154721	ENSG00000154721	58494	58494		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing	14686	protein-coding gene	gene with protein product		606870		C21orf43	NA	10779521, 10945976	Standard		NM_021219	NA	Approved	VE-JAM, JAM-B, JAMB, CD322	uc031rvc.1	P57087	OTTHUMG00000078441	ENST00000480456.1:c.311C>T	21.37:g.27066137C>T	ENSP00000420419:p.Ala104Val	NA	B2R6T9|Q6UXG6|Q6YNC1	37	CCDS42911.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683903	0.88639	7.65E-4	0.0	ENSG00000154721	ENST00000480456;ENST00000400533;ENST00000400532;ENST00000400537;ENST00000312957;ENST00000425221	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.56	5.56	0.83823	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.165192	0.53938	D	0.000058	T	0.77837	0.4190	L	0.50333	1.59	0.42849	D	0.994071	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.79784	0.98;0.993;0.993;0.949;0.989	T	0.77560	-0.2542	10	0.54805	T	0.06	.	16.5363	0.84373	0.0:1.0:0.0:0.0	.	68;104;104;104;104	B4DGT9;A8MQ45;A8MXS1;A8MTB0;P57087	.;.;.;.;JAM2_HUMAN	V	104;104;104;104;104;68	ENSP00000420419:A104V;ENSP00000383376:A104V;ENSP00000318416:A104V;ENSP00000392611:A68V	ENSP00000318416:A104V	A	+	2	0	JAM2	25988008	0.997000	0.39634	0.997000	0.53966	0.910000	0.53928	4.433000	0.59929	2.890000	0.99128	0.655000	0.94253	GCG	JAM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000171347.1		+	ENST00000480456.1	Missense_Mutation	SNP	21 : 27066137 - 27066137 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	481	84
BCLAF1	9774	broad.mit.edu	37	6	136597377	136597377	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136597377C>T	ENST00000531224.1	-	5	1538	c.1286G>A	c.(1285-1287)cGg>cAg	p.R429Q	BCLAF1_ENST00000353331.4_Missense_Mutation_p.R427Q|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R429Q|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R427Q|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R427Q|BCLAF1_ENST00000530767.1_Intron	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	429					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CTCAGTATTCCGGTGAGATGC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(142;1534 1789 5427 7063 28491)							NA				0								C	GLN/ARG,,GLN/ARG	0,4406		0,0,2203	211	207	209		1280,,1286	5.2	1	6		209	2,8598	2.2+/-6.3	0,2,4298	no	missense,intron,missense	BCLAF1	NM_001077440.1,NM_001077441.1,NM_014739.2	43,,43	0,2,6501	TT,TC,CC	NA	0.0233,0.0,0.0154	probably-damaging,,probably-damaging	427/870,,429/921	136597377	2,13004	2203	4300	6503	SO:0001583	missense			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363	9774	9774			16863	protein-coding gene	gene with protein product		612588			NA	8724849, 10330179	Standard	NM_014739	NM_001077440	NA	Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1286G>A	6.37:g.136597377C>T	ENSP00000435210:p.Arg429Gln	NA	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	37	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.649123	0.47362	0.0	2.33E-4	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53	5.25	5.25	0.73442	.	0.000000	0.56097	D	0.000027	T	0.03305	0.0096	N	0.08118	0	0.44079	D	0.996831	P;P;P	0.44578	0.838;0.838;0.838	B;B;B	0.31614	0.133;0.133;0.133	T	0.44019	-0.9355	10	0.41790	T	0.15	-4.7974	19.2213	0.93797	0.0:1.0:0.0:0.0	.	427;427;429	Q9NYF8-2;Q9NYF8-3;Q9NYF8	.;.;BCLF1_HUMAN	Q	429;427;429;427;427;429	ENSP00000435210:R429Q;ENSP00000229446:R427Q;ENSP00000435441:R429Q;ENSP00000434826:R427Q;ENSP00000376159:R427Q;ENSP00000431734:R429Q	ENSP00000229446:R427Q	R	-	2	0	BCLAF1	136639070	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.194000	0.58393	2.615000	0.88500	0.650000	0.86243	CGG	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042375.2		-	ENST00000531224.1	Missense_Mutation	SNP	6 : 136597377 - 136597377 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1464	125
ATP13A5	344905	broad.mit.edu	37	3	193036890	193036890	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193036890C>A	ENST00000342358.4	-	17	2040	c.1923G>T	c.(1921-1923)aaG>aaT	p.K641N		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	641					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GTGGGAAATTCTTGGGCACTG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	135	134			NA	NA	3		NA											NA				193036890		2203	4300	6503	SO:0001583	missense			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527	344905	344905		ATPases / P-type	31789	protein-coding gene	gene with protein product					NA		Standard	NM_198505	NM_198505	NA	Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.1923G>T	3.37:g.193036890C>A	ENSP00000341942:p.Lys641Asn	NA	Q6UWS4|Q6ZWL0	37	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	C	6.096	0.385934	0.11524	.	.	ENSG00000187527	ENST00000342358	T	0.70869	-0.52	5.73	1.42	0.22433	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	1.269670	0.05084	N	0.484003	T	0.55878	0.1948	N	0.25647	0.755	0.22745	N	0.99878	B	0.27264	0.173	B	0.29440	0.102	T	0.39187	-0.9626	10	0.20046	T	0.44	-5.0747	4.883	0.13688	0.0:0.563:0.1789:0.2581	.	641	Q4VNC0	AT135_HUMAN	N	641	ENSP00000341942:K641N	ENSP00000341942:K641N	K	-	3	2	ATP13A5	194519584	0.001000	0.12720	0.848000	0.33437	0.524000	0.34500	-0.266000	0.08631	0.255000	0.21593	0.655000	0.94253	AAG	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343012.1		-	ENST00000342358.4	Missense_Mutation	SNP	3 : 193036890 - 193036890 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	777	164
NOP9	161424	broad.mit.edu	37	14	24771544	24771544	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24771544C>T	ENST00000267425.3	+	5	1150	c.1057C>T	c.(1057-1059)Cag>Tag	p.Q353*	NOP9_ENST00000396802.3_Nonsense_Mutation_p.Q353*	NM_174913.1	NP_777573.1			NOP9 nucleolar protein	NA											NA						GGAGCACTTGCAGGGGCAGCT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	104	103			NA	NA	14		NA											NA				24771544		2203	4300	6503	SO:0001587	stop_gained				CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943	161424	161424			19826	protein-coding gene	gene with protein product			chromosome 14 open reading frame 21, NOP9 nucleolar protein homolog (yeast)	C14orf21	NA	21653694	Standard		XM_005267385	NA	Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.1057C>T	14.37:g.24771544C>T	ENSP00000267425:p.Gln353*	NA		37	CCDS9624.1	.	.	.	.	.	.	.	.	.	.	C	37	6.337055	0.97485	.	.	ENSG00000196943	ENST00000267425;ENST00000396802	.	.	.	5.06	5.06	0.68205	.	0.119196	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.7914	12.9542	0.58416	0.1627:0.8373:0.0:0.0	.	.	.	.	X	353	.	ENSP00000267425:Q353X	Q	+	1	0	C14orf21	23841384	0.951000	0.32395	1.000000	0.80357	0.980000	0.70556	1.283000	0.33237	2.626000	0.88956	0.557000	0.71058	CAG	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000073186.2		+	ENST00000267425.3	Nonsense_Mutation	SNP	14 : 24771544 - 24771544 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	747	133
SEMA3C	10512	broad.mit.edu	37	7	80374463	80374463	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:80374463G>A	ENST00000265361.3	-	18	2564	c.2003C>T	c.(2002-2004)gCt>gTt	p.A668V	SEMA3C_ENST00000544525.1_Missense_Mutation_p.A686V|SEMA3C_ENST00000419255.2_Missense_Mutation_p.A668V	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	668					immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CGTCACAACAGCCACCATTTC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	79	82			NA	NA	7		NA											NA				80374463		2203	4300	6503	SO:0001583	missense			AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223	10512	10512		Semaphorins, Immunoglobulin superfamily / I-set domain containing	10725	protein-coding gene	gene with protein product		602645		SEMAE	NA	7748561, 9168980	Standard	NM_006379	NM_006379	NA	Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.2003C>T	7.37:g.80374463G>A	ENSP00000265361:p.Ala668Val	NA		37	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006985	0.54361	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.26373	1.75;1.75;1.74	5.56	5.56	0.83823	.	0.202241	0.52532	D	0.000063	T	0.21347	0.0514	N	0.19112	0.55	0.80722	D	1	B;B	0.18310	0.027;0.016	B;B	0.16289	0.015;0.007	T	0.02942	-1.1091	10	0.51188	T	0.08	.	19.5309	0.95228	0.0:0.0:1.0:0.0	.	686;668	F5H1Z7;Q99985	.;SEM3C_HUMAN	V	668;668;686	ENSP00000265361:A668V;ENSP00000411193:A668V;ENSP00000445649:A686V	ENSP00000265361:A668V	A	-	2	0	SEMA3C	80212399	1.000000	0.71417	0.999000	0.59377	0.810000	0.45777	5.594000	0.67557	2.636000	0.89361	0.650000	0.86243	GCT	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253279.1		-	ENST00000265361.3	Missense_Mutation	SNP	7 : 80374463 - 80374463 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	444	85
PTPRB	5787	broad.mit.edu	37	12	70953285	70953285	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70953285T>C	ENST00000550358.1	-	17	4313	c.4288A>G	c.(4288-4290)Aga>Gga	p.R1430G	PTPRB_ENST00000551525.1_Missense_Mutation_p.R1517G|PTPRB_ENST00000261266.5_Missense_Mutation_p.R1300G|PTPRB_ENST00000451516.2_Missense_Mutation_p.R1210G|PTPRB_ENST00000550857.1_Missense_Mutation_p.R1210G|PTPRB_ENST00000334414.6_Missense_Mutation_p.R1518G|PTPRB_ENST00000538708.1_Missense_Mutation_p.R1210G			P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1300	Fibronectin type-III 16.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGTGCATCTCTGGGCAACCAC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								T	GLY/ARG,GLY/ARG,GLY/ARG,GLY/ARG	0,3972		0,0,1986	251	245	247		4552,3628,3628,3898	1	0	12		247	2,8334		0,2,4166	yes	missense,missense,missense,missense	PTPRB	NM_001109754.2,NM_001206971.1,NM_001206972.1,NM_002837.4	125,125,125,125	0,2,6152	CC,CT,TT	NA	0.024,0.0,0.0162	benign,benign,benign,benign	1518/2216,1210/1908,1210/1908,1300/1998	70953285	2,12306	1986	4168	6154	SO:0001583	missense			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11					NA	5787		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing	9665	protein-coding gene	gene with protein product		176882		PTPB	NA	2169617	Standard		NM_001109754	NA	Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000550358.1:c.4288A>G	12.37:g.70953285T>C	ENSP00000448058:p.Arg1430Gly	NA	B7ZKT0|C9JX87|Q14D85|Q3MIV7	37		.	.	.	.	.	.	.	.	.	.	T	8.024	0.760358	0.15914	0.0	2.4E-4	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43;3.64	6.11	0.985	0.19779	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.464614	0.25789	N	0.028297	T	0.33294	0.0858	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B;B	0.11235	0.004;0.002;0.002;0.001;0.002;0.001;0.004	B;B;B;B;B;B;B	0.12837	0.008;0.008;0.005;0.002;0.005;0.008;0.007	T	0.17899	-1.0354	10	0.20046	T	0.44	.	10.0031	0.41940	0.0:0.0624:0.4667:0.4709	.	1210;1210;1397;1517;1518;1300;1430	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	G	1518;1210;1430;1210;1210;1300;1517;1397	ENSP00000334928:R1518G;ENSP00000393028:R1210G;ENSP00000448058:R1430G;ENSP00000438927:R1210G;ENSP00000447302:R1210G;ENSP00000261266:R1300G;ENSP00000448349:R1517G;ENSP00000446982:R1397G	ENSP00000261266:R1300G	R	-	1	2	PTPRB	69239552	0.000000	0.05858	0.015000	0.15790	0.331000	0.28603	0.325000	0.19628	-0.059000	0.13154	-0.316000	0.08728	AGA	PTPRB-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000404436.1		-	ENST00000550358.1	Missense_Mutation	SNP	12 : 70953285 - 70953285 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1070	215
CCR9	10803	broad.mit.edu	37	3	45942482	45942482	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45942482C>A	ENST00000422395.1	+	4	423	c.288C>A	c.(286-288)gtC>gtA	p.V96V	CCR9_ENST00000395963.2_Missense_Mutation_p.L56I|CCR9_ENST00000355983.2_Missense_Mutation_p.L56I|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000357632.2_Missense_Mutation_p.L68I|LZTFL1_ENST00000536047.1_Intron			P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	0					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		GGGCAACAGTCTTGTTATCCT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													261	218	233			NA	NA	3		NA											NA				45942482		2203	4300	6503	SO:0001819	synonymous_variant			AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585	10803	10803		GPCR / Class A : Chemokine receptors : C-C motif, CD molecules	1610	protein-coding gene	gene with protein product		604738		GPR28	NA	10229797	Standard		NM_006641	NA	Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000422395.1:c.288C>A	3.37:g.45942482C>A		NA	Q4VBM3|Q549E0|Q9UQQ6	37		.	.	.	.	.	.	.	.	.	.	C	12.77	2.038359	0.35989	.	.	ENSG00000173585	ENST00000357632;ENST00000395963;ENST00000355983	T;T;T	0.77877	-1.13;-1.13;-1.13	5.14	5.14	0.70334	GPCR, rhodopsin-like superfamily (1);	0.086825	0.48767	D	0.000176	D	0.86188	0.5873	M	0.82323	2.585	0.48696	D	0.999692	D	0.76494	0.999	D	0.75020	0.985	D	0.87005	0.2119	10	0.72032	D	0.01	.	6.6875	0.23154	0.0:0.7802:0.0:0.2198	.	68	P51686	CCR9_HUMAN	I	68;56;56	ENSP00000350256:L68I;ENSP00000379292:L56I;ENSP00000348260:L56I	ENSP00000348260:L56I	L	+	1	0	CCR9	45917486	0.925000	0.31364	0.943000	0.38184	0.007000	0.05969	1.241000	0.32743	2.392000	0.81423	0.563000	0.77884	CTT	CCR9-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000344397.1		+	ENST00000422395.1	Silent	SNP	3 : 45942482 - 45942482 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1144	236
THSD7B	80731	broad.mit.edu	37	2	138373804	138373804	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:138373804C>A	ENST00000409968.1	+	18	3661	c.3483C>A	c.(3481-3483)aaC>aaA	p.N1161K	THSD7B_ENST00000272643.3_Missense_Mutation_p.N1164K|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.N1133K					thrombospondin, type I, domain containing 7B	NA										NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CATCACTGAACTCAAGGACTT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	170	166			NA	NA	2		NA											NA				138373804		2118	4225	6343	SO:0001583	missense					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229	80731	80731			29348	protein-coding gene	gene with protein product					NA	11214970	Standard	XM_046570.9	NM_001080427	NA	Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3483C>A	2.37:g.138373804C>A	ENSP00000387145:p.Asn1161Lys	NA		37		.	.	.	.	.	.	.	.	.	.	C	1.846	-0.466125	0.04476	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.18174	2.23;2.23;2.23	5.2	0.0549	0.14312	.	0.564048	0.21965	N	0.066528	T	0.11707	0.0285	L	0.54323	1.7	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.35798	-0.9774	10	0.12103	T	0.63	.	4.6827	0.12743	0.1435:0.4232:0.0:0.4333	.	1133	C9JKN6	.	K	1161;1164;1133	ENSP00000387145:N1161K;ENSP00000272643:N1164K;ENSP00000413841:N1133K	ENSP00000272643:N1164K	N	+	3	2	THSD7B	138090274	0.005000	0.15991	0.089000	0.20774	0.130000	0.20726	0.048000	0.14078	0.049000	0.15920	0.650000	0.86243	AAC	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000331769.2		+	ENST00000409968.1	Missense_Mutation	SNP	2 : 138373804 - 138373804 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	769	65
CYP4F12	66002	broad.mit.edu	37	19	15807727	15807727	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15807727C>T	ENST00000550308.1	+	13	1787	c.1407C>T	c.(1405-1407)atC>atT	p.I469I	CYP4F12_ENST00000324632.10_Silent_p.I469I	NM_023944.3	NP_076433			cytochrome P450, family 4, subfamily F, polypeptide 12	NA										NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GGAACTGCATCGGGCAGGCGT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	34	32	33		1407	-4.6	0.6	19		33	1,8599		0,1,4299	no	coding-synonymous	CYP4F12	NM_023944.3		0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077		469/525	15807727	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204	66002	66002		Cytochrome P450s	18857	protein-coding gene	gene with protein product		611485	cytochrome P450, subfamily IVF, polypeptide 12		NA	11162607	Standard		NM_023944	NA	Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.1407C>T	19.37:g.15807727C>T		NA		37	CCDS42517.1																																																																																			CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378938.9		+	ENST00000550308.1	Silent	SNP	19 : 15807727 - 15807727 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	210	44
ZNF592	9640	broad.mit.edu	37	15	85326844	85326844	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85326844G>T	ENST00000560079.2	+	4	1226	c.938G>T	c.(937-939)gGg>gTg	p.G313V	ZNF592_ENST00000299927.3_Missense_Mutation_p.G313V	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	313					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GATCTCTCAGGGCCCACTAAA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	69	67			NA	NA	15		NA											NA				85326844		2203	4299	6502	SO:0001583	missense			D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716	9640	9640		Zinc fingers, C2H2-type	28986	protein-coding gene	gene with protein product		613624	spinocerebellar ataxia, autosomal recessive 5	SCAR5	NA	9039502, 12030328, 20531441	Standard	NM_014630	NM_014630	NA	Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.938G>T	15.37:g.85326844G>T	ENSP00000452877:p.Gly313Val	NA	Q2M1T2|Q504Y9	37	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	G	9.180	1.023302	0.19433	.	.	ENSG00000166716	ENST00000299927	T	0.00608	6.25	5.65	3.78	0.43462	.	0.236852	0.42682	D	0.000680	T	0.00412	0.0013	N	0.12182	0.205	0.53688	D	0.999975	P	0.42518	0.782	B	0.36378	0.223	D	0.85856	0.1407	10	0.37606	T	0.19	-30.6874	9.883	0.41245	0.1648:0.0:0.8352:0.0	.	313	Q92610	ZN592_HUMAN	V	313	ENSP00000299927:G313V	ENSP00000299927:G313V	G	+	2	0	ZNF592	83127848	0.731000	0.28111	1.000000	0.80357	0.942000	0.58702	1.042000	0.30303	1.393000	0.46605	0.655000	0.94253	GGG	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418779.2		+	ENST00000560079.2	Missense_Mutation	SNP	15 : 85326844 - 85326844 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	574	97
LACE1	246269	broad.mit.edu	37	6	108645053	108645053	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108645053G>T	ENST00000368977.4	+	2	350	c.164G>T	c.(163-165)aGc>aTc	p.S55I		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	55							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		ACATCCGAGAGCATGACCCCA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	91	93			NA	NA	6		NA											NA				108645053		2203	4300	6503	SO:0001583	missense			AF520418	CCDS5067.1	6q22.1	2006-11-10			ENSG00000135537	ENSG00000135537	246269	246269			16411	protein-coding gene	gene with protein product	ATPase family gene 1 homolog (S. cerevisiae)				NA	12079282	Standard	NM_145315	XM_005266885	NA	Approved	AFG1	uc003psj.3	Q8WV93	OTTHUMG00000015324	ENST00000368977.4:c.164G>T	6.37:g.108645053G>T	ENSP00000357973:p.Ser55Ile	NA	Q8N6A3	37	CCDS5067.1	.	.	.	.	.	.	.	.	.	.	G	9.185	1.024493	0.19433	.	.	ENSG00000135537	ENST00000368977;ENST00000437715	.	.	.	5.44	-2.02	0.07388	.	1.142340	0.06187	N	0.680538	T	0.06508	0.0167	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29427	-1.0012	9	0.35671	T	0.21	0.0101	2.4287	0.04466	0.4639:0.2219:0.2013:0.1129	.	55	Q8WV93	LACE1_HUMAN	I	55;22	.	ENSP00000357973:S55I	S	+	2	0	LACE1	108751746	0.001000	0.12720	0.000000	0.03702	0.012000	0.07955	-0.056000	0.11787	-0.868000	0.04058	-0.275000	0.10095	AGC	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041719.4		+	ENST00000368977.4	Missense_Mutation	SNP	6 : 108645053 - 108645053 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	392	90
ABCA7	10347	broad.mit.edu	37	19	1043053	1043053	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1043053G>A	ENST00000263094.6	+	8	824	c.593G>A	c.(592-594)cGc>cAc	p.R198H	ABCA7_ENST00000433129.1_Missense_Mutation_p.R198H|ABCA7_ENST00000435683.2_Missense_Mutation_p.R60H	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	198					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	p.R198L(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGCGCTGCGCAGCCTGGTG	0.667		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)											28	31	30			NA	NA	19		NA											NA				1043053		2202	4298	6500	SO:0001583	missense			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687	10347	10347		ATP binding cassette transporters / subfamily A	37	protein-coding gene	gene with protein product		605414			NA		Standard	NM_019112	NM_019112	NA	Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.593G>A	19.37:g.1043053G>A	ENSP00000263094:p.Arg198His	NA	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	37	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	g	5.419	0.262452	0.10294	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.86562	-2.14;-2.14	4.1	1.92	0.25849	.	.	.	.	.	T	0.69566	0.3125	N	0.08118	0	0.18873	N	0.999986	B;B	0.33904	0.0;0.431	B;B	0.22152	0.0;0.038	T	0.59521	-0.7439	9	0.48119	T	0.1	.	7.3426	0.26646	0.1915:0.6197:0.1888:0.0	.	60;198	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	H	198	ENSP00000263094:R198H;ENSP00000414062:R198H	ENSP00000263094:R198H	R	+	2	0	ABCA7	994053	0.000000	0.05858	0.978000	0.43139	0.001000	0.01503	0.628000	0.24522	0.344000	0.23847	-1.964000	0.00472	CGC	ABCA7-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394993.1		+	ENST00000263094.6	Missense_Mutation	SNP	19 : 1043053 - 1043053 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	312	49
FILIP1	27145	broad.mit.edu	37	6	76022961	76022961	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76022961G>A	ENST00000393004.2	-	5	2808	c.2587C>T	c.(2587-2589)Ctc>Ttc	p.L863F	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.L863F|FILIP1_ENST00000370020.1_Missense_Mutation_p.L764F			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	863										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTCATAGTGAGCTCATTTGCT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	101	99			NA	NA	6		NA											NA				76022961		2203	4300	6503	SO:0001583	missense			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407	27145	27145			21015	protein-coding gene	gene with protein product		607307			NA	10574462	Standard	XM_029179	XM_005248713	NA	Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000393004.2:c.2587C>T	6.37:g.76022961G>A	ENSP00000376728:p.Leu863Phe	NA	B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	37		.	.	.	.	.	.	.	.	.	.	G	4.862	0.160255	0.09287	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.20598	2.06;2.06;2.07	5.9	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.19525	0.0469	L	0.50333	1.59	0.47621	D	0.999475	D;B;B	0.56035	0.974;0.058;0.095	P;B;B	0.53450	0.726;0.036;0.078	T	0.01235	-1.1410	10	0.41790	T	0.15	-11.3231	12.5159	0.56032	0.0:0.1275:0.7399:0.1326	.	863;863;863	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	F	863;863;764	ENSP00000376728:L863F;ENSP00000237172:L863F;ENSP00000359037:L764F	ENSP00000237172:L863F	L	-	1	0	FILIP1	76079681	0.997000	0.39634	0.991000	0.47740	0.995000	0.86356	2.561000	0.45905	1.459000	0.47892	0.563000	0.77884	CTC	FILIP1-004	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000471226.1		-	ENST00000393004.2	Missense_Mutation	SNP	6 : 76022961 - 76022961 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	729	129
LY96	23643	broad.mit.edu	37	8	74922249	74922249	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:74922249G>T	ENST00000518893.1	+	2	143	c.126G>T	c.(124-126)aaG>aaT	p.K42N	LY96_ENST00000284818.2_Missense_Mutation_p.K72N	NM_001195797.1	NP_001182726.1	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	72					cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			GAGATTTAAAGCAATTATATT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(131;1357 1748 34893 50149 52212)							NA				0													68	70	69			NA	NA	8		NA											NA				74922249		2203	4300	6503	SO:0001583	missense			AB018549	CCDS6216.1, CCDS56540.1	8q13.3	2004-01-22			ENSG00000154589	ENSG00000154589	23643	23643			17156	protein-coding gene	gene with protein product		605243			NA	10359581, 11466383	Standard	NM_015364	NM_015364	NA	Approved	MD-2	uc003yad.3	Q9Y6Y9	OTTHUMG00000164504	ENST00000518893.1:c.126G>T	8.37:g.74922249G>T	ENSP00000430533:p.Lys42Asn	NA	B3Y6A5	37	CCDS56540.1	.	.	.	.	.	.	.	.	.	.	G	8.710	0.911873	0.17907	.	.	ENSG00000154589	ENST00000284818;ENST00000518893	T;T	0.42900	0.96;0.96	4.77	-0.413	0.12363	MD-2-related lipid-recognition (2);Immunoglobulin E-set (1);	0.986339	0.08275	N	0.970796	T	0.30665	0.0772	L	0.46157	1.445	0.09310	N	1	B	0.16396	0.017	B	0.16722	0.016	T	0.37934	-0.9684	10	0.54805	T	0.06	.	0.6474	0.00821	0.4632:0.1717:0.1992:0.1658	.	72	Q9Y6Y9	LY96_HUMAN	N	72;42	ENSP00000284818:K72N;ENSP00000430533:K42N	ENSP00000284818:K72N	K	+	3	2	LY96	75084803	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-0.072000	0.11486	-0.141000	0.11374	-0.469000	0.05056	AAG	LY96-003	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379088.1		+	ENST00000518893.1	Missense_Mutation	SNP	8 : 74922249 - 74922249 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	53
ZNF184	7738	broad.mit.edu	37	6	27420156	27420156	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27420156T>G	ENST00000211936.6	-	6	1466	c.1182A>C	c.(1180-1182)gaA>gaC	p.E394D	ZNF184_ENST00000377419.1_Missense_Mutation_p.E394D	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CCTTTCCACATTCATTACATT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	57	56			NA	NA	6		NA											NA				27420156		2203	4300	6503	SO:0001583	missense			U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654	7738	7738		Zinc fingers, C2H2-type, -	12975	protein-coding gene	gene with protein product		602277	zinc finger protein 184 (Kruppel-like)		NA		Standard	NM_007149	NM_007149	NA	Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1182A>C	6.37:g.27420156T>G	ENSP00000211936:p.Glu394Asp	NA	B2R715|O60792|Q8TBA9	37	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	T	15.39	2.820190	0.50633	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.18338	2.22;2.22	5.26	0.0295	0.14163	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000104	T	0.03783	0.0107	L	0.39326	1.205	0.25791	N	0.984612	B	0.19200	0.034	B	0.20767	0.031	T	0.36212	-0.9757	10	0.40728	T	0.16	.	4.1982	0.10453	0.1421:0.2472:0.0:0.6107	.	394	Q99676	ZN184_HUMAN	D	394	ENSP00000211936:E394D;ENSP00000366636:E394D	ENSP00000211936:E394D	E	-	3	2	ZNF184	27528135	0.000000	0.05858	0.999000	0.59377	0.983000	0.72400	-3.957000	0.00325	0.150000	0.19136	0.528000	0.53228	GAA	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040146.1		-	ENST00000211936.6	Missense_Mutation	SNP	6 : 27420156 - 27420156 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	305	61
SYT7	9066	broad.mit.edu	37	11	61295552	61295552	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61295552T>C	ENST00000542836.1	-	6	606	c.589A>G	c.(589-591)Acc>Gcc	p.T197A	SYT7_ENST00000263846.4_Missense_Mutation_p.T153A|SYT7_ENST00000535826.1_Missense_Mutation_p.T272A|SYT7_ENST00000539008.1_Missense_Mutation_p.T436A|SYT7_ENST00000540677.1_Missense_Mutation_p.T228A|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000542670.1_Missense_Mutation_p.T361A			O43581	SYT7_HUMAN	synaptotagmin VII	153	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ATCTTCACGGTGAGCGTGGAC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	80	78			NA	NA	11		NA											NA				61295552		2202	4299	6501	SO:0001583	missense			AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347	9066	9066		Synaptotagmins	11514	protein-coding gene	gene with protein product		604146	prostate cancer associated protein 7	PCANAP7	NA	9615227	Standard	NM_004200	NM_001252065	NA	Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000542836.1:c.589A>G	11.37:g.61295552T>C	ENSP00000444568:p.Thr197Ala	NA	Q08AH6	37		.	.	.	.	.	.	.	.	.	.	T	21.1	4.101750	0.76983	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826;ENST00000545053	T;T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	4.44	4.44	0.53790	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.045776	0.85682	D	0.000000	T	0.68439	0.3001	L	0.52573	1.65	0.58432	D	0.999999	B;B	0.26318	0.12;0.146	B;B	0.42771	0.342;0.397	T	0.63260	-0.6677	10	0.19147	T	0.46	.	14.4057	0.67081	0.0:0.0:0.0:1.0	.	228;153	F5GZU9;O43581	.;SYT7_HUMAN	A	153;228;436;197;361;272;153	ENSP00000263846:T153A;ENSP00000444201:T228A;ENSP00000439694:T436A;ENSP00000444568:T197A;ENSP00000444019:T361A;ENSP00000437720:T272A;ENSP00000443576:T153A	ENSP00000263846:T153A	T	-	1	0	SYT7	61052128	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.249000	0.72427	1.960000	0.56953	0.459000	0.35465	ACC	SYT7-008	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000398738.1		-	ENST00000542836.1	Missense_Mutation	SNP	11 : 61295552 - 61295552 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	596	44
NPHP4	261734	broad.mit.edu	37	1	6046333	6046333	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6046333C>T	ENST00000378156.4	-	2	282	c.17G>A	c.(16-18)aGg>aAg	p.R6K	NPHP4_ENST00000478423.2_Intron	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	6					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGAAGATCCTGTGCCAGTC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	61	59			NA	NA	1		NA											NA				6046333		2019	4172	6191	SO:0001583	missense			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697	261734	261734			19104	protein-coding gene	gene with protein product	nephroretinin, nephrocystin-4, POC10 centriolar protein homolog (Chlamydomonas)	607215			NA	11920287, 12205563	Standard		XR_244787	NA	Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.17G>A	1.37:g.6046333C>T	ENSP00000367398:p.Arg6Lys	NA		37	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	C	7.776	0.708515	0.15239	.	.	ENSG00000131697	ENST00000378156	D	0.86297	-2.1	5.41	-2.07	0.07276	.	1.197840	0.06089	N	0.663313	T	0.80859	0.4704	L	0.44542	1.39	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.60929	-0.7165	10	0.14656	T	0.56	.	11.3369	0.49509	0.0:0.3751:0.0:0.6249	.	6	O75161	NPHP4_HUMAN	K	6	ENSP00000367398:R6K	ENSP00000367398:R6K	R	-	2	0	NPHP4	5968920	0.000000	0.05858	0.001000	0.08648	0.096000	0.18686	-0.822000	0.04448	-0.338000	0.08413	-0.136000	0.14681	AGG	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000001715.2		-	ENST00000378156.4	Missense_Mutation	SNP	1 : 6046333 - 6046333 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	118	18
SCNN1B	6338	broad.mit.edu	37	16	23364329	23364329	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23364329C>A	ENST00000568923.1	+	2	527	c.519C>A	c.(517-519)ggC>ggA	p.G173G	SCNN1B_ENST00000343070.2_Silent_p.G173G|SCNN1B_ENST00000307331.5_Silent_p.G218G|SCNN1B_ENST00000568085.1_Silent_p.G173G			P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	173					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	ACCACAATGGCTTAACAAGCA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CI994507	SCNN1B	I							152	132	138			NA	NA	16		NA											NA				23364329		2197	4300	6497	SO:0001819	synonymous_variant			X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447	NA	6338		Ion channels / Sodium channel, nonvoltage-gated, Sodium channels	10600	protein-coding gene	gene with protein product	Liddle syndrome	600760	sodium channel, nonvoltage-gated 1, beta, sodium channel, non-voltage-gated 1, beta		NA		Standard		NM_000336	NA	Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000568923.1:c.519C>A	16.37:g.23364329C>A		NA	C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	37																																																																																				SCNN1B-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000434813.1		+	ENST00000568923.1	Silent	SNP	16 : 23364329 - 23364329 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	557	123
RCBTB1	55213	broad.mit.edu	37	13	50141409	50141409	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50141409C>T	ENST00000378302.2	-	3	267	c.7G>A	c.(7-9)Gat>Aat	p.D3N	RCBTB1_ENST00000258646.3_Missense_Mutation_p.D3N|RCBTB1_ENST00000546015.1_Missense_Mutation_p.D3N	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	3					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		TTTCCGACATCCACCATGACT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	105	107			NA	NA	13		NA											NA				50141409		2203	4300	6503	SO:0001583	missense			AF334406	CCDS9418.1	13q14	2013-01-08			ENSG00000136144	ENSG00000136144	55213	55213		BTB/POZ domain containing	18243	protein-coding gene	gene with protein product		607867			NA	11306461	Standard	NM_018191	XM_005266441	NA	Approved	FLJ10716, CLLD7, CLLL7	uc001vde.1	Q8NDN9	OTTHUMG00000016915	ENST00000378302.2:c.7G>A	13.37:g.50141409C>T	ENSP00000367552:p.Asp3Asn	NA	Q8IY29|Q969U9	37	CCDS9418.1	.	.	.	.	.	.	.	.	.	.	C	36	5.873139	0.97049	.	.	ENSG00000136144	ENST00000258646;ENST00000378302;ENST00000546015	T;T;T	0.47528	1.07;1.07;0.84	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.65984	0.2744	M	0.66939	2.045	0.80722	D	1	D	0.58620	0.983	P	0.58721	0.844	T	0.67189	-0.5733	10	0.87932	D	0	-22.2148	20.1466	0.98079	0.0:1.0:0.0:0.0	.	3	Q8NDN9	RCBT1_HUMAN	N	3	ENSP00000258646:D3N;ENSP00000367552:D3N;ENSP00000443293:D3N	ENSP00000258646:D3N	D	-	1	0	RCBTB1	49039410	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.396000	0.79891	2.779000	0.95612	0.591000	0.81541	GAT	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044912.2		-	ENST00000378302.2	Missense_Mutation	SNP	13 : 50141409 - 50141409 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	385	50
SPAG17	200162	broad.mit.edu	37	1	118727776	118727776	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118727776G>A	ENST00000336338.5	-	1	70	c.5C>T	c.(4-6)gCa>gTa	p.A2V		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	2						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTTCTTGGGTGCCATGCAAAG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	134	139			NA	NA	1		NA											NA				118727776		2203	4300	6503	SO:0001583	missense				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761	200162	200162			26620	protein-coding gene	gene with protein product					NA		Standard	NM_206996	NM_206996	NA	Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.5C>T	1.37:g.118727776G>A	ENSP00000337804:p.Ala2Val	NA	Q8NAZ1|Q9NT21	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626553	0.66901	.	.	ENSG00000155761	ENST00000336338	T	0.20598	2.06	4.88	4.88	0.63580	.	0.398250	0.24698	N	0.036340	T	0.21841	0.0526	N	0.22421	0.69	0.33507	D	0.590619	D	0.89917	1.0	D	0.87578	0.998	T	0.02477	-1.1153	10	0.59425	D	0.04	.	13.7149	0.62691	0.0:0.0:1.0:0.0	.	2	Q6Q759	SPG17_HUMAN	V	2	ENSP00000337804:A2V	ENSP00000337804:A2V	A	-	2	0	SPAG17	118529299	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.482000	0.45224	2.699000	0.92147	0.555000	0.69702	GCA	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033723.1		-	ENST00000336338.5	Missense_Mutation	SNP	1 : 118727776 - 118727776 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	653	143
ADCY5	111	broad.mit.edu	37	3	123049816	123049816	+	Silent	SNP	G	G	A	rs148753023		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123049816G>A	ENST00000491190.1	-	6	1002	c.465C>T	c.(463-465)tgC>tgT	p.C155C	ADCY5_ENST00000462833.1_Silent_p.C522C|ADCY5_ENST00000309879.5_Silent_p.C172C			O95622	ADCY5_HUMAN	adenylate cyclase 5	522					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GCCCCGAGACGCAGTAATAAC	0.483		NA											G	4	0.0018	0.002	NA	2184	0.01	1	,	,	NA	3e-04	NA	NA	NA	0.0019	0.9882	EXOME	NA	NA	0.0045	SNP								NA				0								G	,	1,4405	2.1+/-5.4	0,1,2202	79	71	74		516,1566	-4.6	0.9	3	dbSNP_134	74	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ADCY5	NM_001199642.1,NM_183357.2	,	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	,	172/912,522/1262	123049816	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	111	111	4.6.1.1	Adenylate cyclases	236	protein-coding gene	gene with protein product		600293			NA	10481931	Standard	XM_171048	NM_183357	NA	Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000491190.1:c.465C>T	3.37:g.123049816G>A		NA	Q7RTV7|Q8NFM3	37																																																																																				ADCY5-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000355890.1		-	ENST00000491190.1	Silent	SNP	3 : 123049816 - 123049816 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	301	58
MTPAP	55149	broad.mit.edu	37	10	30629378	30629378	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30629378C>T	ENST00000263063.4	-	3	375	c.332G>A	c.(331-333)gGt>gAt	p.G111D	MTPAP_ENST00000358107.4_Splice_Site_p.G241D|MTPAP_ENST00000488290.1_5'UTR	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	NA					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						AGCATAGAGACCCTATACCAA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001630	splice_region_variant			AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951	55149	55149			25532	protein-coding gene	gene with protein product	TUTase1	613669	PAP associated domain containing 1	PAPD1	NA	12239557, 15769737, 15547249	Standard	NM_018109	NM_018109	NA	Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.331-1G>A	10.37:g.30629378C>T		NA	D3DRX0|Q659E3|Q6P7E5|Q9HA74	37	CCDS7165.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440161	0.83993	.	.	ENSG00000107951	ENST00000358107;ENST00000263063;ENST00000417581;ENST00000421701	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.51483	0.1677	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.97110	1.0;0.999;0.952	T	0.47209	-0.9135	10	0.16420	T	0.52	-19.6079	18.5135	0.90926	0.0:1.0:0.0:0.0	.	73;241;111	Q5T851;Q9NVV4-2;Q9NVV4	.;.;PAPD1_HUMAN	D	241;111;46;73	ENSP00000350820:G241D;ENSP00000263063:G111D;ENSP00000404392:G46D;ENSP00000394118:G73D	ENSP00000263063:G111D	G	-	2	0	MTPAP	30669384	1.000000	0.71417	0.994000	0.49952	0.886000	0.51366	6.292000	0.72725	2.431000	0.82371	0.591000	0.81541	GGT	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047426.2	Missense_Mutation	-	ENST00000263063.4	Splice_Site	SNP	10 : 30629378 - 30629378 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	406	66
CHD6	84181	broad.mit.edu	37	20	40111947	40111947	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40111947A>G	ENST00000373233.3	-	16	2646		c.e16+1		CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	NA					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CACAAGTCTCACCTTCTCTGG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	69	72			NA	NA	20		NA											NA				40111947		2203	4300	6503	SO:0001630	splice_region_variant			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177	NA	84181			19057	protein-coding gene	gene with protein product					NA	11889561	Standard		NM_032221	NA	Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.2468+1T>C	20.37:g.40111947A>G		NA	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	37	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.316159	0.81469	.	.	ENSG00000124177	ENST00000373233	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2157	0.73264	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD6	39545361	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.055000	0.93873	2.241000	0.73720	0.533000	0.62120	.	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079270.1	Intron	-	ENST00000373233.3	Splice_Site	SNP	20 : 40111947 - 40111947 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	202	39
TMEM132D	121256	broad.mit.edu	37	12	130185134	130185134	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130185134C>A	ENST00000422113.2	-	2	515	c.189G>T	c.(187-189)aaG>aaT	p.K63N		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	63						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGTTGGCCTCCTTCAGGAAGA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	65	71			NA	NA	12		NA											NA				130185134		2203	4300	6503	SO:0001583	missense			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952	121256	121256			29411	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 153	611257			NA	11853319, 12966072	Standard	NM_133448	NM_133448	NA	Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.189G>T	12.37:g.130185134C>A	ENSP00000408581:p.Lys63Asn	NA	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594132	0.66219	.	.	ENSG00000151952	ENST00000422113	T	0.12879	2.64	5.33	2.5	0.30297	.	0.000000	0.64402	D	0.000007	T	0.35970	0.0950	M	0.85373	2.75	0.37480	D	0.915953	D	0.71674	0.998	D	0.69142	0.962	T	0.44802	-0.9304	9	.	.	.	-41.0956	10.0937	0.42462	0.0:0.738:0.0:0.262	.	63	Q14C87	T132D_HUMAN	N	63	ENSP00000408581:K63N	.	K	-	3	2	TMEM132D	128751087	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.629000	0.24538	1.239000	0.43787	0.555000	0.69702	AAG	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399592.1		-	ENST00000422113.2	Missense_Mutation	SNP	12 : 130185134 - 130185134 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	251	48
DLGAP4	22839	broad.mit.edu	37	20	35154346	35154346	+	Silent	SNP	C	C	T	rs147941086		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35154346C>T	ENST00000373913.3	+	12	3168	c.2688C>T	c.(2686-2688)ttC>ttT	p.F896F	RP5-977B1.7_ENST00000433238.1_RNA|DLGAP4_ENST00000401952.2_Silent_p.F896F|DLGAP4_ENST00000339266.5_Silent_p.F899F|DLGAP4_ENST00000340491.4_Silent_p.F360F|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000373907.2_Silent_p.F899F|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	899					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCATGAAGTTCGATGAACTCT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								T	,,	1,4405	2.1+/-5.4	0,1,2202	104	99	100		576,2688,1080	-1	1	20	dbSNP_134	100	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	DLGAP4	NM_001042486.2,NM_014902.4,NM_183006.2	,,	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	,,	192/286,896/990,360/454	35154346	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845	22839	22839			24476	protein-coding gene	gene with protein product					NA	9115257	Standard	NM_014902	XM_005260329	NA	Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373913.3:c.2688C>T	20.37:g.35154346C>T		NA	E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	37	CCDS13274.1																																																																																			DLGAP4-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079023.1		+	ENST00000373913.3	Silent	SNP	20 : 35154346 - 35154346 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	696	166
SLC12A5	57468	broad.mit.edu	37	20	44669988	44669988	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44669988G>A	ENST00000243964.3	+	8	973	c.875G>A	c.(874-876)cGc>cAc	p.R292H	SLC12A5_ENST00000454036.2_Missense_Mutation_p.R315H	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	315					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGGGTAACCGCACGCTGTCT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	84	86			NA	NA	20		NA											NA				44669988		2203	4300	6503	SO:0001583	missense			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140	57468	57468		Solute carriers	13818	protein-coding gene	gene with protein product		606726			NA		Standard		NM_020708	NA	Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000243964.3:c.875G>A	20.37:g.44669988G>A	ENSP00000243964:p.Arg292His	NA	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	37	CCDS13391.1	.	.	.	.	.	.	.	.	.	.	G	32	5.188788	0.94923	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	T;T	0.69306	-0.39;-0.39	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.73016	0.3533	M	0.76328	2.33	0.80722	D	1	D;D	0.59357	0.985;0.968	P;B	0.49561	0.615;0.429	T	0.73902	-0.3836	10	0.33141	T	0.24	.	16.9431	0.86223	0.0:0.0:1.0:0.0	.	315;292	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	H	315;292	ENSP00000387694:R315H;ENSP00000243964:R292H	ENSP00000243964:R292H	R	+	2	0	SLC12A5	44103395	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.657000	0.98554	2.457000	0.83068	0.655000	0.94253	CGC	SLC12A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079558.2		+	ENST00000243964.3	Missense_Mutation	SNP	20 : 44669988 - 44669988 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	360	64
GJB2	2706	broad.mit.edu	37	13	20763277	20763277	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20763277G>A	ENST00000382844.1	-	1	642	c.444C>T	c.(442-444)gcC>gcT	p.A148A	GJB2_ENST00000382848.4_Silent_p.A148A			P29033	CXB2_HUMAN	gap junction protein, beta 2, 26kDa	148					cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	connexon complex|ER-Golgi intermediate compartment|integral to membrane				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		ACATGAAGGCGGCTTCGAAGA	0.542		NA							Keratitis, Ichthyosis and Deafness syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	100	104			NA	NA	13		NA											NA				20763277		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	KID syndrome	M86849	CCDS9290.1	13q11-q12	2010-01-06	2007-01-16		ENSG00000165474	ENSG00000165474	NA	2706		Ion channels / Gap junction proteins (connexins)	4284	protein-coding gene	gene with protein product	connexin 26	121011	gap junction protein, beta 2, 26kD (connexin 26), gap junction protein, beta 2, 26kDa (connexin 26)	DFNB1, DFNA3	NA	9139825	Standard		NM_004004	NA	Approved	CX26, NSRD1	uc001umy.3	P29033	OTTHUMG00000016513	ENST00000382844.1:c.444C>T	13.37:g.20763277G>A		743	Q508A5|Q508A6|Q5YLL0|Q5YLL1|Q5YLL4|Q6IPV5|Q86U88|Q96AK0|Q9H536|Q9NNY4	37	CCDS9290.1																																																																																			GJB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044064.1		-	ENST00000382844.1	Silent	SNP	13 : 20763277 - 20763277 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	407	64
SLC9A7	84679	broad.mit.edu	37	X	46480434	46480434	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:46480434G>T	ENST00000328306.4	-	15	1823	c.1798C>A	c.(1798-1800)Ctg>Atg	p.L600M	SLC9A7_ENST00000464933.1_5'UTR	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	600					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						CTGTACCACAGCCTGAATATC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(118;454 1696 1930 13865 39976)							NA				0													167	99	122			NA	NA	X		NA											NA				46480434		2203	4300	6503	SO:0001583	missense			AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923	84679	84679		Solute carriers	17123	protein-coding gene	gene with protein product		300368	solute carrier family 9 (sodium/hydrogen exchanger), isoform 7, solute carrier family 9 (sodium/hydrogen exchanger), member 7		NA	11279194	Standard	NM_032591	NM_001257291	NA	Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.1798C>A	X.37:g.46480434G>T	ENSP00000330320:p.Leu600Met	NA	O75827|Q5JXP9	37	CCDS14269.1	.	.	.	.	.	.	.	.	.	.	g	7.689	0.690640	0.15039	.	.	ENSG00000065923	ENST00000328306	T	0.46063	0.88	5.34	4.48	0.54585	.	0.149626	0.45361	D	0.000364	T	0.27454	0.0674	L	0.35341	1.055	0.38746	D	0.953991	B	0.24618	0.107	B	0.19946	0.027	T	0.14448	-1.0472	10	0.33940	T	0.23	.	5.0467	0.14487	0.1844:0.1684:0.6471:0.0	.	600	Q96T83	SL9A7_HUMAN	M	600	ENSP00000330320:L600M	ENSP00000330320:L600M	L	-	1	2	SLC9A7	46365378	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.914000	0.28624	1.234000	0.43709	0.597000	0.82753	CTG	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056370.1		-	ENST00000328306.4	Missense_Mutation	SNP	X : 46480434 - 46480434 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	96	41
SPAG6	9576	broad.mit.edu	37	10	22678185	22678185	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22678185C>A	ENST00000376624.3	+	7	1091	c.949C>A	c.(949-951)Ctt>Att	p.L317I	RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376601.1_Intron|SPAG6_ENST00000538630.1_Missense_Mutation_p.L292I|SPAG6_ENST00000376603.2_Missense_Mutation_p.L393I|SPAG6_ENST00000313311.6_Missense_Mutation_p.L317I	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	317					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						CATCATGATGCTTGGTTATGT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													187	157	167			NA	NA	10		NA											NA				22678185		2203	4300	6503	SO:0001583	missense			AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327	9576	9576		Armadillo repeat containing	11215	protein-coding gene	gene with protein product	axoneme central apparatus protein	605730			NA	10493827	Standard		NM_012443	NA	Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.949C>A	10.37:g.22678185C>A	ENSP00000365811:p.Leu317Ile	NA	A8K1I8|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	37	CCDS7139.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981469	0.74474	.	.	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000538630;ENST00000313311	T;T;T;T	0.74526	-0.85;0.62;-0.85;-0.85	5.74	5.74	0.90152	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75184	0.3815	L	0.45352	1.415	0.80722	D	1	P;P;P;P	0.44195	0.736;0.668;0.828;0.828	B;P;B;B	0.47162	0.255;0.54;0.31;0.333	T	0.71570	-0.4553	10	0.30854	T	0.27	-16.9601	19.9238	0.97097	0.0:1.0:0.0:0.0	.	292;393;317;317	B4DXZ4;O75602-3;O75602-2;O75602	.;.;.;SPAG6_HUMAN	I	317;393;292;317	ENSP00000365811:L317I;ENSP00000365788:L393I;ENSP00000441325:L292I;ENSP00000323599:L317I	ENSP00000323599:L317I	L	+	1	0	SPAG6	22718191	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	7.570000	0.82390	2.712000	0.92718	0.650000	0.86243	CTT	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047187.1		+	ENST00000376624.3	Missense_Mutation	SNP	10 : 22678185 - 22678185 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	276	27
BAK1	578	broad.mit.edu	37	6	33541918	33541918	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33541918C>T	ENST00000374467.3	-	5	672	c.424G>A	c.(424-426)Gtc>Atc	p.V142I	BAK1_ENST00000360661.5_Missense_Mutation_p.V142I|BAK1_ENST00000442998.2_Silent_p.T148T	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	142					activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						TGCTGGTAGACGTGTAGGGCC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ILE/VAL	0,4406		0,0,2203	57	54	55		424	1.9	0.3	6		55	1,8599	1.2+/-3.3	0,1,4299	no	missense	BAK1	NM_001188.3	29	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign	142/212	33541918	1,13005	2203	4300	6503	SO:0001583	missense			U23765	CCDS4781.1	6p21.31	2014-03-07			ENSG00000030110	ENSG00000030110	578	578			949	protein-coding gene	gene with protein product		600516		CDN1	NA	7715730, 7715731	Standard	NM_001188	NM_001188	NA	Approved	BCL2L7, BAK	uc003oes.3	Q16611	OTTHUMG00000014530	ENST00000374467.3:c.424G>A	6.37:g.33541918C>T	ENSP00000363591:p.Val142Ile	NA	Q6I9T6|Q92533	37	CCDS4781.1	.	.	.	.	.	.	.	.	.	.	C	8.578	0.881671	0.17467	0.0	1.16E-4	ENSG00000030110	ENST00000374460;ENST00000374467;ENST00000360661	T;T	0.11169	2.8;2.8	4.75	1.88	0.25563	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (3);	0.205916	0.32736	N	0.005701	T	0.03095	0.0091	L	0.45228	1.405	0.80722	D	1	B	0.16166	0.016	B	0.24974	0.057	T	0.32693	-0.9897	10	0.18276	T	0.48	-26.5385	8.2542	0.31746	0.0:0.721:0.0:0.279	.	142	Q16611	BAK_HUMAN	I	122;142;142	ENSP00000363591:V142I;ENSP00000353878:V142I	ENSP00000353878:V142I	V	-	1	0	BAK1	33649896	0.994000	0.37717	0.259000	0.24435	0.351000	0.29236	2.813000	0.48002	0.194000	0.20326	0.485000	0.47835	GTC	BAK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040202.1		-	ENST00000374467.3	Missense_Mutation	SNP	6 : 33541918 - 33541918 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	353	68
ZNF623	9831	broad.mit.edu	37	8	144732313	144732313	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144732313G>T	ENST00000501748.2	+	1	360	c.271G>T	c.(271-273)Gga>Tga	p.G91*	ZNF623_ENST00000458270.2_Nonsense_Mutation_p.G51*|ZNF623_ENST00000526926.1_Nonsense_Mutation_p.G51*	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GATCCAGACAGGAGAGACAGC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	86	86			NA	NA	8		NA											NA				144732313		2203	4300	6503	SO:0001587	stop_gained			AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309	9831	9831		Zinc fingers, C2H2-type	29084	protein-coding gene	gene with protein product					NA	9734811	Standard	NM_014789	NM_014789	NA	Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.271G>T	8.37:g.144732313G>T	ENSP00000445979:p.Gly91*	NA		37	CCDS34957.1	.	.	.	.	.	.	.	.	.	.	G	37	6.026268	0.97216	.	.	ENSG00000183309	ENST00000526926;ENST00000328466;ENST00000458270;ENST00000532796;ENST00000501748	.	.	.	4.35	3.47	0.39725	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-12.5066	12.372	0.55260	0.0:0.1714:0.8286:0.0	.	.	.	.	X	51;51;51;91;91	.	ENSP00000330358:G51X	G	+	1	0	ZNF623	144803456	0.940000	0.31905	0.968000	0.41197	0.548000	0.35241	1.416000	0.34759	1.185000	0.42971	-0.150000	0.13652	GGA	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382522.3		+	ENST00000501748.2	Nonsense_Mutation	SNP	8 : 144732313 - 144732313 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	637	116
PTBP1	5725	broad.mit.edu	37	19	807883	807883	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:807883A>C	ENST00000356948.6	+	11	1557	c.1134A>C	c.(1132-1134)caA>caC	p.Q378H	PTBP1_ENST00000350092.4_Missense_Mutation_p.Q18H|PTBP1_ENST00000349038.4_Missense_Mutation_p.Q352H|PTBP1_ENST00000394601.4_Missense_Mutation_p.Q371H	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	352	RRM 3.				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		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)		TCACACCCCAAAGCCTCTTTA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													222	199	207			NA	NA	19		NA											NA				807883		2203	4300	6503	SO:0001583	missense			X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304	5725	5725		RNA binding motif (RRM) containing	9583	protein-coding gene	gene with protein product	heterogeneous nuclear ribonucleoprotein I	600693	polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)	PTB	NA	1906036, 11024286	Standard		NM_002819	NA	Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000356948.6:c.1134A>C	19.37:g.807883A>C	ENSP00000349428:p.Gln378His	NA		37	CCDS42456.1	.	.	.	.	.	.	.	.	.	.	A	11.45	1.642587	0.29246	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038;ENST00000350092	T;T;T;T	0.44083	0.93;3.32;1.23;1.49	5.33	5.33	0.75918	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.246333	0.41938	D	0.000782	T	0.36853	0.0982	L	0.42487	1.325	0.54753	D	0.99998	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.13407	0.002;0.004;0.009;0.004	T	0.11690	-1.0577	10	0.31617	T	0.26	-7.9015	14.4771	0.67554	1.0:0.0:0.0:0.0	.	18;352;371;378	A6NLN1;P26599;P26599-2;Q9BUQ0	.;PTBP1_HUMAN;.;.	H	378;371;352;18	ENSP00000349428:Q378H;ENSP00000408096:Q371H;ENSP00000014112:Q352H;ENSP00000342332:Q18H	ENSP00000014112:Q352H	Q	+	3	2	PTBP1	758883	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.419000	0.59835	2.006000	0.58801	0.528000	0.53228	CAA	PTBP1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457603.2		+	ENST00000356948.6	Missense_Mutation	SNP	19 : 807883 - 807883 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1037	158
EPC1	80314	broad.mit.edu	37	10	32635840	32635840	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32635840T>C	ENST00000319778.6	-	1	306	c.4A>G	c.(4-6)Agt>Ggt	p.S2G	RP11-135A24.4_ENST00000412085.1_RNA|EPC1_ENST00000263062.8_Missense_Mutation_p.S2G|EPC1_ENST00000480402.1_5'UTR|EPC1_ENST00000375110.2_Intron|AL391839.1_ENST00000410377.1_RNA	NM_001272004.1|NM_001272019.2	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	2					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				GACAGTTTACTCATCTCAGGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	41	40			NA	NA	10		NA											NA				32635840		2203	4300	6503	SO:0001583	missense			AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616	80314	80314			19876	protein-coding gene	gene with protein product		610999			NA	10976108	Standard		NM_025209	NA	Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000319778.6:c.4A>G	10.37:g.32635840T>C	ENSP00000318559:p.Ser2Gly	NA	B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	37		.	.	.	.	.	.	.	.	.	.	T	29.0	4.967458	0.92855	.	.	ENSG00000120616	ENST00000319778;ENST00000263062	.	.	.	4.7	4.7	0.59300	.	0.087777	0.85682	D	0.000000	T	0.76414	0.3984	M	0.66939	2.045	0.58432	D	0.999992	D;D	0.89917	1.0;0.997	D;P	0.85130	0.997;0.907	T	0.79412	-0.1814	9	0.87932	D	0	-8.3521	13.3215	0.60436	0.0:0.0:0.0:1.0	.	2;2	Q9H2F5-2;Q9H2F5	.;EPC1_HUMAN	G	2	.	ENSP00000263062:S2G	S	-	1	0	EPC1	32675846	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.945000	0.75947	1.739000	0.51704	0.418000	0.28097	AGT	EPC1-002	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000047482.1		-	ENST00000319778.6	Missense_Mutation	SNP	10 : 32635840 - 32635840 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	338	68
ZSCAN20	7579	broad.mit.edu	37	1	33960823	33960823	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33960823A>C	ENST00000361328.3	+	8	3032	c.2879A>C	c.(2878-2880)aAa>aCa	p.K960T		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	960					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AAGCCCTACAAATGCCTTGAG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	99	94			NA	NA	1		NA											NA				33960823		2161	4277	6438	SO:0001583	missense			X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903	7579	7579		-, Zinc fingers, C2H2-type	13093	protein-coding gene	gene with protein product		611315	zinc finger protein 31 (KOX 29), zinc finger protein 31	ZNF360, ZNF31	NA	2288909	Standard	NM_145238	NM_145238	NA	Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2879A>C	1.37:g.33960823A>C	ENSP00000355053:p.Lys960Thr	NA	A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	37	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	A	12.56	1.973625	0.34848	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.66	2.06	0.26882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.184247	0.38058	N	0.001840	T	0.29061	0.0722	L	0.35593	1.075	0.09310	N	1	B;B	0.30193	0.178;0.272	B;B	0.33339	0.062;0.162	T	0.22243	-1.0222	9	0.72032	D	0.01	-3.6351	4.805	0.13316	0.6102:0.1497:0.24:0.0	.	959;960	P17040-3;P17040	.;ZSC20_HUMAN	T	960;894;894	.	ENSP00000324450:K960T	K	+	2	0	ZSCAN20	33733410	0.000000	0.05858	0.960000	0.40013	0.986000	0.74619	-0.041000	0.12084	0.092000	0.17331	0.533000	0.62120	AAA	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277003.2		+	ENST00000361328.3	Missense_Mutation	SNP	1 : 33960823 - 33960823 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	360	36
NDP	4693	broad.mit.edu	37	X	43817734	43817734	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:43817734T>C	ENST00000378062.5	-	2	565	c.158A>G	c.(157-159)tAc>tGc	p.Y53C	NDP_ENST00000470584.1_Intron|NDP-AS1_ENST00000435093.1_RNA	NM_000266.3	NP_000257.1	Q00604	NDP_HUMAN	Norrie disease (pseudoglioma)	53	CTCK.				canonical Wnt receptor signaling pathway|cell proliferation|cell-cell signaling|nervous system development|positive regulation of transcription, DNA-dependent|sensory perception of sound|vacuole organization|visual perception	extracellular matrix|extracellular space	cell surface binding|frizzled binding|growth factor activity|protein homodimerization activity			kidney(1)|lung(2)	3						GCTACACTTGTACAATGGGTG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	136	151			NA	NA	X		NA											NA				43817734		2203	4300	6503	SO:0001583	missense			X65882	CCDS14262.1	Xp11.4-p11.3	2013-02-26			ENSG00000124479	ENSG00000124479	4693	4693		Endogenous ligands	7678	protein-coding gene	gene with protein product		300658	exudative vitreoretinopathy 2 (X-linked)	EVR2	NA	8252044	Standard	NM_000266	NM_000266	NA	Approved	norrin	uc004dga.3	Q00604	OTTHUMG00000021391	ENST00000378062.5:c.158A>G	X.37:g.43817734T>C	ENSP00000367301:p.Tyr53Cys	NA	B2R8K6|Q5JYH5	37	CCDS14262.1	.	.	.	.	.	.	.	.	.	.	T	18.80	3.700482	0.68501	.	.	ENSG00000124479	ENST00000378062	D	0.90676	-2.71	5.98	5.98	0.97165	Cystine knot (1);Cystine knot, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.90844	0.7124	N	0.19112	0.55	0.80722	D	1	D	0.71674	0.998	D	0.64144	0.922	D	0.92428	0.5951	10	0.72032	D	0.01	-29.3628	15.3225	0.74132	0.0:0.0:0.0:1.0	.	53	Q00604	NDP_HUMAN	C	53	ENSP00000367301:Y53C	ENSP00000367301:Y53C	Y	-	2	0	NDP	43702678	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.263000	0.78421	2.002000	0.58637	0.486000	0.48141	TAC	NDP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056309.1		-	ENST00000378062.5	Missense_Mutation	SNP	X : 43817734 - 43817734 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	377	103
SI	6476	broad.mit.edu	37	3	164735356	164735356	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164735356C>A	ENST00000264382.3	-	31	3801	c.3739G>T	c.(3739-3741)Gtg>Ttg	p.V1247L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1247	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTAGCAGCCACCATAGCGTCA	0.343		NA								HNSCC(35;0.089)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	59	60			NA	NA	3		NA											NA				164735356		2202	4297	6499	SO:0001583	missense			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	6476	6476	3.2.1.10		10856	protein-coding gene	gene with protein product	Oligosaccharide alpha-1,6-glucosidase	609845	sucrase-isomaltase		NA	2962903, 1353958	Standard	NM_001041	NM_001041	NA	Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3739G>T	3.37:g.164735356C>A	ENSP00000264382:p.Val1247Leu	NA	A2RUC3|Q1JQ80|Q1RMC2	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	3.381	-0.126324	0.06795	.	.	ENSG00000090402	ENST00000264382	D	0.91295	-2.82	5.31	1.04	0.20106	Glycoside hydrolase, superfamily (1);	0.966348	0.08594	N	0.922511	D	0.83681	0.5307	L	0.41906	1.305	0.18873	N	0.999984	B	0.12013	0.005	B	0.21546	0.035	T	0.64892	-0.6300	10	0.11182	T	0.66	.	5.9688	0.19340	0.0:0.502:0.1289:0.3691	.	1247	P14410	SUIS_HUMAN	L	1247	ENSP00000264382:V1247L	ENSP00000264382:V1247L	V	-	1	0	SI	166218050	0.096000	0.21769	0.166000	0.22797	0.012000	0.07955	0.350000	0.20079	0.006000	0.14734	0.591000	0.81541	GTG	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350116.1		-	ENST00000264382.3	Missense_Mutation	SNP	3 : 164735356 - 164735356 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	306	39
SLC10A1	6554	broad.mit.edu	37	14	70252875	70252875	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70252875G>T	ENST00000216540.4	-	2	639	c.506C>A	c.(505-507)cCt>cAt	p.P169H		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	169					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)		TATGGTGCAAGGAATGAGAAC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													226	186	200			NA	NA	14		NA											NA				70252875		2203	4300	6503	SO:0001583	missense			L21893	CCDS9797.1	14q24.2	2013-07-18	2013-07-18		ENSG00000100652	ENSG00000100652	6554	6554		Solute carriers	10905	protein-coding gene	gene with protein product		182396			NA	8132774	Standard		NM_003049	NA	Approved	NTCP	uc001xlr.2	Q14973	OTTHUMG00000171236	ENST00000216540.4:c.506C>A	14.37:g.70252875G>T	ENSP00000216540:p.Pro169His	NA	B9EGB6|Q2TU29	37	CCDS9797.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450879	0.43531	.	.	ENSG00000100652	ENST00000216540	T	0.76709	-1.04	4.89	4.89	0.63831	.	0.176981	0.50627	D	0.000110	D	0.87394	0.6166	H	0.96430	3.82	0.58432	D	0.999997	P	0.39809	0.689	B	0.42882	0.401	D	0.91155	0.4956	10	0.87932	D	0	-16.08	18.2073	0.89859	0.0:0.0:1.0:0.0	.	169	Q14973	NTCP_HUMAN	H	169	ENSP00000216540:P169H	ENSP00000216540:P169H	P	-	2	0	SLC10A1	69322628	1.000000	0.71417	1.000000	0.80357	0.216000	0.24613	9.024000	0.93689	2.700000	0.92200	0.561000	0.74099	CCT	SLC10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412464.1		-	ENST00000216540.4	Missense_Mutation	SNP	14 : 70252875 - 70252875 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	514	89
RANBP2	5903	broad.mit.edu	37	2	109383227	109383227	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109383227G>T	ENST00000283195.6	+	20	6358	c.6232G>T	c.(6232-6234)Gaa>Taa	p.E2078*		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2078	RanBD1 2.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GATGCGAAGAGAACAAGTACT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													202	218	213			NA	NA	2		NA											NA				109383227		2202	4291	6493	SO:0001587	stop_gained			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201	5903	5903		Tetratricopeptide (TTC) repeat domain containing	9848	protein-coding gene	gene with protein product		601181	acute necrotizing encephalopathy 1 (autosomal dominant)	ANE1	NA	7724562, 19118815	Standard	NM_006267	NM_006267	NA	Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.6232G>T	2.37:g.109383227G>T	ENSP00000283195:p.Glu2078*	NA	Q13074|Q15280|Q53TE2|Q59FH7	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	47	13.207144	0.99727	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-22.982	19.718	0.96131	0.0:0.0:1.0:0.0	.	.	.	.	X	1102;2078	.	ENSP00000283195:E2078X	E	+	1	0	RANBP2	108749659	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.653000	0.90120	0.557000	0.71058	GAA	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253594.1		+	ENST00000283195.6	Nonsense_Mutation	SNP	2 : 109383227 - 109383227 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2478	596
PARS2	25973	broad.mit.edu	37	1	55224511	55224511	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55224511C>A	ENST00000371279.3	-	2	406	c.324G>T	c.(322-324)gaG>gaT	p.E108D		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	108					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	TGGCCTGCATCTCCTGGTCTA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	76	76			NA	NA	1		NA											NA				55224511		2203	4300	6503	SO:0001583	missense			AK025585	CCDS597.1	1p32.2	2011-07-01	2007-02-23		ENSG00000162396	ENSG00000162396	25973	25973	6.1.1.15	Aminoacyl tRNA synthetases / Class II	30563	protein-coding gene	gene with protein product	proline tRNA ligase 2, mitochondrial (putative)	612036			NA	15779907	Standard	NM_152268	NM_152268	NA	Approved	DKFZp727A071	uc001cxy.3	Q7L3T8	OTTHUMG00000009915	ENST00000371279.3:c.324G>T	1.37:g.55224511C>A	ENSP00000360327:p.Glu108Asp	NA	A8K0W4|Q9H6S5|Q9UFT1	37	CCDS597.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580642	0.65992	.	.	ENSG00000162396	ENST00000371279	T	0.80566	-1.39	4.99	4.99	0.66335	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.065947	0.64402	D	0.000010	D	0.91563	0.7335	H	0.96889	3.9	0.53688	D	0.999977	D	0.56035	0.974	D	0.63381	0.914	D	0.93020	0.6439	10	0.72032	D	0.01	-24.8229	9.9672	0.41732	0.0:0.7824:0.1404:0.0772	.	108	Q7L3T8	SYPM_HUMAN	D	108	ENSP00000360327:E108D	ENSP00000360327:E108D	E	-	3	2	PARS2	54997099	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.534000	0.45676	2.310000	0.77875	0.563000	0.77884	GAG	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000027436.1		-	ENST00000371279.3	Missense_Mutation	SNP	1 : 55224511 - 55224511 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	510	120
HECTD2	143279	broad.mit.edu	37	10	93244323	93244323	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93244323G>A	ENST00000298068.5	+	9	975	c.881G>A	c.(880-882)cGc>cAc	p.R294H	HECTD2_ENST00000498446.1_3'UTR|HECTD2_ENST00000371667.1_5'UTR|HECTD2_ENST00000536715.1_5'UTR|HECTD2_ENST00000446394.1_Missense_Mutation_p.R298H	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	294					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						ATTTCTTTACGCCTGTTTCCT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(12;376 469 1699 39910 41417)							NA				0													98	99	99			NA	NA	10		NA											NA				93244323		2203	4300	6503	SO:0001583	missense			AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338	143279	143279			26736	protein-coding gene	gene with protein product			HECT domain containing 2		NA	8619474, 9110174	Standard		NM_001284274	NA	Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.881G>A	10.37:g.93244323G>A	ENSP00000298068:p.Arg294His	NA	Q5VZ97|Q5VZ99|Q8TCP5	37	CCDS7414.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776438	0.70107	.	.	ENSG00000165338	ENST00000446394;ENST00000371668;ENST00000298068	T;T	0.39229	1.12;1.09	5.97	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.67316	0.2880	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.63957	0.794;0.92	T	0.71471	-0.4583	10	0.36615	T	0.2	.	17.2064	0.86920	0.0:0.1261:0.8739:0.0	.	298;294	E7ERR3;Q5U5R9	.;HECD2_HUMAN	H	298;20;294	ENSP00000401023:R298H;ENSP00000298068:R294H	ENSP00000298068:R294H	R	+	2	0	HECTD2	93234303	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.069000	0.93967	1.508000	0.48769	-0.274000	0.10170	CGC	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000098620.1		+	ENST00000298068.5	Missense_Mutation	SNP	10 : 93244323 - 93244323 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	439	49
SLC9C1	285335	broad.mit.edu	37	3	111887888	111887888	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111887888G>T	ENST00000305815.5	-	25	3325	c.3073C>A	c.(3073-3075)Cta>Ata	p.L1025I	SLC9C1_ENST00000487372.1_Missense_Mutation_p.L977I	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1025					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity				NA						GAGAGCTTTAGTTGCATATTG	0.274		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	79	77			NA	NA	3		NA											NA				111887888		2201	4293	6494	SO:0001583	missense			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139	285335	285335		Solute carriers	31401	protein-coding gene	gene with protein product	sperm-NHE	612738	solute carrier family 9, isoform 10, solute carrier family 9, member 10	SLC9A10	NA	12783626	Standard	NM_183061	NM_183061	NA	Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.3073C>A	3.37:g.111887888G>T	ENSP00000306627:p.Leu1025Ile	NA	Q6ZRP4|Q7RTP2	37	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	G	9.761	1.170208	0.21621	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.79845	-1.29;-1.31	6.06	2.17	0.27698	.	0.152620	0.31601	N	0.007364	T	0.82001	0.4942	L	0.46157	1.445	0.09310	N	1	D;D	0.76494	0.968;0.999	P;D	0.78314	0.885;0.991	T	0.70219	-0.4932	10	0.56958	D	0.05	-2.0288	3.568	0.07907	0.6437:0.0:0.1974:0.1589	.	977;1025	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	I	1025;977	ENSP00000306627:L1025I;ENSP00000420688:L977I	ENSP00000306627:L1025I	L	-	1	2	SLC9A10	113370578	0.409000	0.25368	0.065000	0.19835	0.022000	0.10575	0.467000	0.22035	0.114000	0.18032	-0.355000	0.07637	CTA	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354066.1		-	ENST00000305815.5	Missense_Mutation	SNP	3 : 111887888 - 111887888 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	273	42
FAM92A1	137392	broad.mit.edu	37	8	94713675	94713675	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:94713675C>T	ENST00000518322.1	+	2	391	c.250C>T	c.(250-252)Cga>Tga	p.R84*	FAM92A1_ENST00000423990.2_Nonsense_Mutation_p.R84*|FAM92A1_ENST00000522324.1_Nonsense_Mutation_p.R84*	NM_145269.3	NP_660312.2	A1XBS5	F92A1_HUMAN	family with sequence similarity 92, member A1	84										NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCAGGATTATCGACAAGCAGA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	42	43			NA	NA	8		NA											NA				94713675		1941	4149	6090	SO:0001587	stop_gained				CCDS47892.1, CCDS64933.1	8q22.1	2005-09-22			ENSG00000188343	ENSG00000188343	137392	137392			30452	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_145269	XM_005250783	NA	Approved	FLJ38979	uc022ayd.1	A1XBS5	OTTHUMG00000164238	ENST00000518322.1:c.250C>T	8.37:g.94713675C>T	ENSP00000429367:p.Arg84*	NA	A1XBS4|Q32ND3|Q6AHW7|Q8N8R1|Q96L09	37	CCDS47892.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.410186|6.410186	0.97546|0.97546	.|.	.|.	ENSG00000188343|ENSG00000188343	ENST00000523475;ENST00000518829;ENST00000518322;ENST00000522324;ENST00000522803;ENST00000423990;ENST00000436526;ENST00000341186;ENST00000540007;ENST00000520955|ENST00000523453	.|.	.|.	.|.	4.38|4.38	3.43|3.43	0.39272|0.39272	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.68650	.|0.3024	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67948	.|-0.5538	.|4	0.02654|.	T|.	1|.	-15.1932|-15.1932	14.2849|14.2849	0.66240|0.66240	0.1487:0.8513:0.0:0.0|0.1487:0.8513:0.0:0.0	.|.	.|.	.|.	.|.	X|L	14;14;84;84;84;84;84;84;84;14|94	.|.	ENSP00000341363:R84X|.	R|S	+|+	1|2	2|0	FAM92A1|FAM92A1	94782851|94782851	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	5.831000|5.831000	0.69330|0.69330	2.430000|2.430000	0.82344|0.82344	0.655000|0.655000	0.94253|0.94253	CGA|TCG	FAM92A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377890.4		+	ENST00000518322.1	Nonsense_Mutation	SNP	8 : 94713675 - 94713675 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	126	28
MUC16	94025	broad.mit.edu	37	19	9048279	9048279	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9048279G>T	ENST00000397910.4	-	5	33555	c.33352C>A	c.(33352-33354)Ctt>Att	p.L11118I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11120	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L6751F(1)|p.L11118F(1)		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						CTAGAAGAAAGAGTTAGAATT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	prostate(2)											81	74	76			NA	NA	19		NA											NA				9048279		1915	4116	6031	SO:0001583	missense			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.33352C>A	19.37:g.9048279G>T	ENSP00000381008:p.Leu11118Ile	NA	Q6ZQW5|Q96RK2	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.847	0.157510	0.09236	.	.	ENSG00000181143	ENST00000397910	T	0.02890	4.12	2.94	-5.88	0.02290	.	.	.	.	.	T	0.02342	0.0072	L	0.40543	1.245	.	.	.	B	0.27656	0.184	B	0.30646	0.118	T	0.43147	-0.9409	8	0.87932	D	0	.	0.4756	0.00539	0.1814:0.21:0.2627:0.3459	.	11118	B5ME49	.	I	11118	ENSP00000381008:L11118I	ENSP00000381008:L11118I	L	-	1	0	MUC16	8909279	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-3.687000	0.00393	-2.006000	0.00958	-0.492000	0.04666	CTT	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Missense_Mutation	SNP	19 : 9048279 - 9048279 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	430	84
MAP1A	4130	broad.mit.edu	37	15	43817488	43817488	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43817488T>C	ENST00000382031.1	+	5	4562	c.4531T>C	c.(4531-4533)Tac>Cac	p.Y1511H	MAP1A_ENST00000300231.5_Missense_Mutation_p.Y1273H|MAP1A_ENST00000399453.1_Missense_Mutation_p.Y1273H			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1273						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GACAACTCGATACTCTGCACA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	105	101			NA	NA	15		NA											NA				43817488		2146	4257	6403	SO:0001583	missense			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963	4130	4130			6835	protein-coding gene	gene with protein product		600178		MAP1L	NA	7806212, 7629894	Standard	NM_002373	XM_005254385	NA	Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000382031.1:c.4531T>C	15.37:g.43817488T>C	ENSP00000371462:p.Tyr1511His	NA	O95643|Q12973|Q15882|Q9UJT4	37		.	.	.	.	.	.	.	.	.	.	T	11.44	1.639184	0.29157	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01474	4.85;4.86;4.86	4.89	2.45	0.29901	.	.	.	.	.	T	0.01765	0.0056	L	0.50333	1.59	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.49390	-0.8945	9	0.15952	T	0.53	-2.1529	1.6221	0.02716	0.1669:0.1003:0.3468:0.3861	.	1273	P78559	MAP1A_HUMAN	H	1511;1273;1273	ENSP00000371462:Y1511H;ENSP00000382380:Y1273H;ENSP00000300231:Y1273H	ENSP00000300231:Y1273H	Y	+	1	0	MAP1A	41604780	0.000000	0.05858	0.002000	0.10522	0.083000	0.17756	0.119000	0.15626	0.855000	0.35359	0.460000	0.39030	TAC	MAP1A-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000132895.2		+	ENST00000382031.1	Missense_Mutation	SNP	15 : 43817488 - 43817488 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	334	54
USP28	57646	broad.mit.edu	37	11	113683095	113683095	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113683095G>T	ENST00000003302.4	-	16	1943	c.1875C>A	c.(1873-1875)tcC>tcA	p.S625S	USP28_ENST00000545540.1_Silent_p.S500S|USP28_ENST00000260188.5_Silent_p.S625S|USP28_ENST00000544967.1_Silent_p.S333S	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	625					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CTTCTTCCCAGGAAGATTCAG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)							NA				0													132	134	133			NA	NA	11		NA											NA				113683095		2201	4296	6497	SO:0001819	synonymous_variant			AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028	57646	57646		Ubiquitin-specific peptidases	12625	protein-coding gene	gene with protein product		610748	ubiquitin specific protease 28		NA	12838346, 11597335	Standard		XM_005271630	NA	Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1875C>A	11.37:g.113683095G>T		NA	B0YJC0|B0YJC1|Q9P213	37	CCDS31680.1																																																																																			USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398789.1		-	ENST00000003302.4	Silent	SNP	11 : 113683095 - 113683095 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	509	75
PAH	5053	broad.mit.edu	37	12	103238180	103238180	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:103238180G>T	ENST00000307000.2	-	11	1254	c.984C>A	c.(982-984)ctC>ctA	p.L328L	PAH_ENST00000553106.1_Silent_p.L333L			P00439	PH4H_HUMAN	phenylalanine hydroxylase	333					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CTTGTTTGCAGAGCCCAAACT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	87	90			NA	NA	12		NA											NA				103238180		2203	4300	6503	SO:0001819	synonymous_variant			U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	5053	5053	1.14.16.1		8582	protein-coding gene	gene with protein product	phenylalanine 4-monooxygenase	612349			NA	2063869	Standard		NM_000277	NA	Approved	PH	uc001tjq.1	P00439		ENST00000307000.2:c.984C>A	12.37:g.103238180G>T		NA	Q16717|Q8TC14	37																																																																																				PAH-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000406693.1		-	ENST00000307000.2	Silent	SNP	12 : 103238180 - 103238180 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	168	23
GBX1	2636	broad.mit.edu	37	7	150846225	150846225	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150846225C>A	ENST00000297537.4	-	2	542	c.543G>T	c.(541-543)gaG>gaT	p.E181D		NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	181						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACACCTTCCCCTCTGCTGTGA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	153	150			NA	NA	7		NA											NA				150846225		2031	4190	6221	SO:0001583	missense			L11239	CCDS43682.1	7q36.1	2012-03-09	2005-12-22		ENSG00000164900	ENSG00000164900	2636	2636		Homeoboxes / ANTP class : HOXL subclass	4185	protein-coding gene	gene with protein product		603354	gastrulation brain homeo box 1		NA	7903253	Standard		NM_001098834	NA	Approved		uc011kvg.2	Q14549	OTTHUMG00000158751	ENST00000297537.4:c.543G>T	7.37:g.150846225C>A	ENSP00000297537:p.Glu181Asp	NA		37	CCDS43682.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.829649	0.32329	.	.	ENSG00000164900	ENST00000297537	D	0.91996	-2.95	5.12	5.12	0.69794	.	0.000000	0.56097	U	0.000030	T	0.81408	0.4816	N	0.08118	0	0.80722	D	1	B	0.24920	0.114	B	0.24974	0.057	T	0.76542	-0.2921	10	0.18276	T	0.48	-28.0536	10.0885	0.42432	0.1519:0.7012:0.147:0.0	.	181	Q14549	GBX1_HUMAN	D	181	ENSP00000297537:E181D	ENSP00000297537:E181D	E	-	3	2	GBX1	150477158	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.031000	0.30165	2.398000	0.81561	0.591000	0.81541	GAG	GBX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352029.1		-	ENST00000297537.4	Missense_Mutation	SNP	7 : 150846225 - 150846225 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1714	332
RLN2	6019	broad.mit.edu	37	9	5300153	5300153	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5300153G>A	ENST00000381627.3	-	2	891	c.503C>T	c.(502-504)gCt>gTt	p.A168V	RLN2_ENST00000308420.3_3'UTR	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	168					female pregnancy	extracellular region	hormone activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		ACATTTATTAGCCAATGCACT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	105	107			NA	NA	9		NA											NA				5300153		2203	4300	6503	SO:0001583	missense				CCDS6460.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107014	ENSG00000107014	6019	6019		Endogenous ligands	10027	protein-coding gene	gene with protein product	relaxin H2, prorelaxin H2, relaxin, ovarian, of pregnancy	179740	relaxin 2 (H2)		NA	6548703, 6548702	Standard	NM_134441	NM_134441	NA	Approved	H2, RLXH2, bA12D24.1.1, bA12D24.1.2	uc003zja.2	P04090	OTTHUMG00000019496	ENST00000381627.3:c.503C>T	9.37:g.5300153G>A	ENSP00000371040:p.Ala168Val	NA	A0AVM0|Q99936|Q9UCX3|Q9UQJ2	37	CCDS6460.1	.	.	.	.	.	.	.	.	.	.	G	6.287	0.421148	0.11928	.	.	ENSG00000107014	ENST00000381627	D	0.84944	-1.92	3.24	-5.1	0.02911	Insulin-like (4);	2.252680	0.01724	N	0.028443	T	0.76212	0.3956	L	0.32530	0.975	0.09310	N	1	B	0.18968	0.032	B	0.20955	0.032	T	0.61426	-0.7065	10	0.51188	T	0.08	.	5.4884	0.16763	0.1364:0.2102:0.5552:0.0982	.	168	P04090	REL2_HUMAN	V	168	ENSP00000371040:A168V	ENSP00000371040:A168V	A	-	2	0	RLN2	5290153	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.396000	0.01052	-1.078000	0.03117	-2.219000	0.00296	GCT	RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051619.1		-	ENST00000381627.3	Missense_Mutation	SNP	9 : 5300153 - 5300153 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	429	98
APPL2	55198	broad.mit.edu	37	12	105582102	105582102	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:105582102T>G	ENST00000258530.3	-	17	1808	c.1583A>C	c.(1582-1584)aAc>aCc	p.N528T	APPL2_ENST00000551662.1_Missense_Mutation_p.N534T|APPL2_ENST00000539978.2_Missense_Mutation_p.N485T	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	528	PID.				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GCGGAAGATGTTATGAATAGC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	138	144			NA	NA	12		NA											NA				105582102		2203	4300	6503	SO:0001583	missense			AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044	55198	55198		Pleckstrin homology (PH) domain containing	18242	protein-coding gene	gene with protein product		606231			NA	11431708, 17030088	Standard	NM_018171	NM_001251904	NA	Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.1583A>C	12.37:g.105582102T>G	ENSP00000258530:p.Asn528Thr	NA	Q8N4R7|Q9NVL2	37	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.283074	0.80803	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662;ENST00000553109	T;T;T;T	0.19394	2.15;2.15;2.15;2.15	5.36	5.36	0.76844	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.48750	0.1517	M	0.77103	2.36	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.83275	0.996;0.993;0.996	T	0.53795	-0.8388	10	0.87932	D	0	-27.8493	15.3491	0.74368	0.0:0.0:0.0:1.0	.	534;485;528	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	T	528;485;534;59	ENSP00000258530:N528T;ENSP00000444472:N485T;ENSP00000446917:N534T;ENSP00000446510:N59T	ENSP00000258530:N528T	N	-	2	0	APPL2	104106232	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.289000	0.72696	2.024000	0.59613	0.523000	0.50628	AAC	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406238.3		-	ENST00000258530.3	Missense_Mutation	SNP	12 : 105582102 - 105582102 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	617	115
RP11-20I23.1	0	broad.mit.edu	37	16	2546886	2546886	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2546886C>T	ENST00000564543.1	+	1	854	c.737C>T	c.(736-738)gCc>gTc	p.A246V	TBC1D24_ENST00000567020.1_Missense_Mutation_p.A246V|TBC1D24_ENST00000293970.5_Missense_Mutation_p.A246V|TBC1D24_ENST00000434757.2_Missense_Mutation_p.A246V						NA											NA						GTGGCGCTGGCCATCCTCAAG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	62	59			NA	NA	16		NA											NA				2546886		2139	4229	6368	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000564543.1:c.737C>T	16.37:g.2546886C>T	ENSP00000455547:p.Ala246Val	NA		37		.	.	.	.	.	.	.	.	.	.	C	17.94	3.511729	0.64522	.	.	ENSG00000162065	ENST00000293970;ENST00000434757	T;T	0.35605	1.3;1.3	5.24	5.24	0.73138	Rab-GAP/TBC domain (3);	0.052315	0.85682	D	0.000000	T	0.50343	0.1610	M	0.64404	1.975	0.80722	D	1	P;P;P	0.50156	0.857;0.932;0.916	P;P;P	0.53401	0.541;0.725;0.604	T	0.44952	-0.9294	10	0.38643	T	0.18	-32.1815	17.4345	0.87547	0.0:1.0:0.0:0.0	.	246;246;246	B9A6M6;Q9ULP9;Q9ULP9-2	.;TBC24_HUMAN;.	V	246	ENSP00000293970:A246V;ENSP00000390106:A246V	ENSP00000293970:A246V	A	+	2	0	TBC1D24	2486887	1.000000	0.71417	0.998000	0.56505	0.886000	0.51366	5.833000	0.69349	2.445000	0.82738	0.655000	0.94253	GCC	RP11-20I23.1-001	PUTATIVE	basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000435643.1		+	ENST00000564543.1	Missense_Mutation	SNP	16 : 2546886 - 2546886 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	495	46
KCTD3	51133	broad.mit.edu	37	1	215775224	215775224	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215775224C>A	ENST00000259154.4	+	11	1243	c.949C>A	c.(949-951)Cct>Act	p.P317T		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	317						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		AGATGTTGTTCCTATAACTAG	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	93	95			NA	NA	1		NA											NA				215775224		2203	4299	6502	SO:0001583	missense			AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636	51133	51133			21305	protein-coding gene	gene with protein product		613272	potassium channel tetramerisation domain containing 3		NA	10508479	Standard	NM_016121	NM_016121	NA	Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.949C>A	1.37:g.215775224C>A	ENSP00000259154:p.Pro317Thr	NA	A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	37	CCDS1515.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361649	0.82353	.	.	ENSG00000136636	ENST00000259154	T	0.06768	3.26	5.52	5.52	0.82312	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.31009	0.0783	M	0.73753	2.245	0.80722	D	1	D;D;D;D	0.89917	0.999;0.984;1.0;0.996	D;P;D;P	0.79108	0.964;0.813;0.992;0.885	T	0.00923	-1.1513	10	0.56958	D	0.05	-26.1819	18.4266	0.90611	0.0:1.0:0.0:0.0	.	69;69;317;317	B7ZAF7;B4DJX2;Q9Y597-2;Q9Y597	.;.;.;KCTD3_HUMAN	T	317	ENSP00000259154:P317T	ENSP00000259154:P317T	P	+	1	0	KCTD3	213841847	1.000000	0.71417	0.897000	0.35233	0.991000	0.79684	7.487000	0.81328	2.600000	0.87896	0.467000	0.42956	CCT	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089871.2		+	ENST00000259154.4	Missense_Mutation	SNP	1 : 215775224 - 215775224 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	316	54
DDX60L	91351	broad.mit.edu	37	4	169343747	169343747	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169343747G>A	ENST00000511577.1	-	16	2419	c.2172C>T	c.(2170-2172)ggC>ggT	p.G724G	DDX60L_ENST00000505890.1_Silent_p.G724G|DDX60L_ENST00000260184.7_Silent_p.G724G			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	724							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TCAAGTAATGGCCCATGTATT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	119	117			NA	NA	4		NA											NA				169343747		2129	4291	6420	SO:0001819	synonymous_variant			AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381	91351	91351			26429	protein-coding gene	gene with protein product					NA		Standard	NM_001012967	XM_005263341	NA	Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.2172C>T	4.37:g.169343747G>A		NA	Q96ND6	37																																																																																				DDX60L-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000364839.1		-	ENST00000511577.1	Silent	SNP	4 : 169343747 - 169343747 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	140	27
IBSP	3381	broad.mit.edu	37	4	88732530	88732530	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88732530A>T	ENST00000226284.5	+	7	489	c.422A>T	c.(421-423)aAt>aTt	p.N141I		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	141	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		GATATAACAAATAAAGCTACA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	59	58			NA	NA	4		NA											NA				88732530		2203	4300	6503	SO:0001583	missense				CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559	3381	3381			5341	protein-coding gene	gene with protein product	bone sialoprotein, bone sialoprotein II	147563			NA	8406493	Standard		NM_004967	NA	Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.422A>T	4.37:g.88732530A>T	ENSP00000226284:p.Asn141Ile	NA		37	CCDS3624.1	.	.	.	.	.	.	.	.	.	.	A	9.778	1.174606	0.21704	.	.	ENSG00000029559	ENST00000226284	T	0.11604	2.76	4.82	-0.215	0.13157	.	1.549700	0.03559	N	0.226805	T	0.13457	0.0326	L	0.43152	1.355	0.09310	N	1	P	0.40731	0.728	B	0.42959	0.403	T	0.34601	-0.9822	10	0.45353	T	0.12	.	7.9182	0.29831	0.6572:0.0:0.3428:0.0	.	141	P21815	SIAL_HUMAN	I	141	ENSP00000226284:N141I	ENSP00000226284:N141I	N	+	2	0	IBSP	88951554	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.062000	0.14389	0.017000	0.15025	-0.346000	0.07831	AAT	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253050.2		+	ENST00000226284.5	Missense_Mutation	SNP	4 : 88732530 - 88732530 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	50
MYO9A	4649	broad.mit.edu	37	15	72119296	72119296	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72119296G>A	ENST00000564571.1	-	0	7427				MYO9A_ENST00000356056.5_Silent_p.D2424D|MYO9A_ENST00000424560.1_Silent_p.D2495D|MYO9A_ENST00000444904.1_Silent_p.D2405D			B2RTY4	MYO9A_HUMAN	myosin IXA	NA					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CATCTAAAGAGTCTTGCTGCT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	71	70			NA	NA	15		NA											NA				72119296		2199	4297	6496	SO:0001624	3_prime_UTR_variant			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933	4649	4649		Myosins / Myosin superfamily : Class IX	7608	protein-coding gene	gene with protein product		604875			NA	10409426	Standard	NM_006901	NM_006901	NA	Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000564571.1:c.*77C>T	15.37:g.72119296G>A		NA	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	37																																																																																				MYO9A-015	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000420905.1		-	ENST00000564571.1	3'UTR	SNP	15 : 72119296 - 72119296 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	59
CDH2	1000	broad.mit.edu	37	18	25570308	25570308	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:25570308C>T	ENST00000399380.3	-	9	1294	c.1258G>A	c.(1258-1260)Gac>Aac	p.D420N	CDH2_ENST00000269141.3_Missense_Mutation_p.D451N			P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	451	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GTTTCAAAGTCGATTGGCTGG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	56	56			NA	NA	18		NA											NA				25570308		2203	4300	6503	SO:0001583	missense			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558	1000	1000		CD molecules, Cadherins / Major cadherins	1759	protein-coding gene	gene with protein product	N-cadherin	114020		NCAD	NA	2384753, 7731968, 2216790	Standard	NM_001792	NM_001792	NA	Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000399380.3:c.1258G>A	18.37:g.25570308C>T	ENSP00000382312:p.Asp420Asn	NA	B0YIY6|Q14923|Q8N173	37		.	.	.	.	.	.	.	.	.	.	C	21.6	4.178862	0.78564	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.63417	-0.04;-0.04	6.16	6.16	0.99307	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.76905	0.4053	M	0.81239	2.535	0.80722	D	1	D;D	0.65815	0.995;0.994	P;P	0.53401	0.725;0.642	T	0.77568	-0.2539	10	0.56958	D	0.05	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	420;451	A8MWK3;P19022	.;CADH2_HUMAN	N	451;420	ENSP00000269141:D451N;ENSP00000382312:D420N	ENSP00000269141:D451N	D	-	1	0	CDH2	23824306	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	GAC	CDH2-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000139363.3		-	ENST00000399380.3	Missense_Mutation	SNP	18 : 25570308 - 25570308 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	290	57
TGFBI	7045	broad.mit.edu	37	5	135383056	135383056	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:135383056A>G	ENST00000442011.2	+	6	879	c.718A>G	c.(718-720)Acc>Gcc	p.T240A	TGFBI_ENST00000305126.8_Missense_Mutation_p.T240A	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	240	FAS1 2.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTCCACCATCACCAACAACAT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													239	235	236			NA	NA	5		NA											NA				135383056		2134	4237	6371	SO:0001583	missense			M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708	7045	7045			11771	protein-coding gene	gene with protein product		601692	transforming growth factor, beta-induced, 68kD	CSD3, LCD1, CSD1, CSD2	NA	9463327	Standard		NM_000358	NA	Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.718A>G	5.37:g.135383056A>G	ENSP00000416330:p.Thr240Ala	NA	D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	37	CCDS47266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.44|13.44	2.236619|2.236619	0.39498|0.39498	.|.	.|.	ENSG00000120708|ENSG00000120708	ENST00000508767|ENST00000442011;ENST00000305126	.|D;D	.|0.91464	.|-2.85;-2.85	6.0|6.0	2.16|2.16	0.27623|0.27623	.|FAS1 domain (2);	.|0.346314	.|0.36268	.|N	.|0.002698	D|D	0.85652|0.85652	0.5746|0.5746	L|L	0.55481|0.55481	1.735|1.735	0.47037|0.47037	D|D	0.999293|0.999293	.|B	.|0.29481	.|0.245	.|B	.|0.25614	.|0.062	T|T	0.76710|0.76710	-0.2859|-0.2859	5|10	.|0.22109	.|T	.|0.4	-6.952|-6.952	11.3332|11.3332	0.49487|0.49487	0.6357:0.0:0.0:0.3643|0.6357:0.0:0.0:0.3643	.|.	.|240	.|Q15582	.|BGH3_HUMAN	R|A	15|240	.|ENSP00000416330:T240A;ENSP00000306306:T240A	.|ENSP00000306306:T240A	H|T	+|+	2|1	0|0	TGFBI|TGFBI	135410955|135410955	0.003000|0.003000	0.15002|0.15002	0.775000|0.775000	0.31657|0.31657	0.891000|0.891000	0.51852|0.51852	1.730000|1.730000	0.38125|0.38125	0.129000|0.129000	0.18514|0.18514	0.454000|0.454000	0.30748|0.30748	CAC|ACC	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372108.1		+	ENST00000442011.2	Missense_Mutation	SNP	5 : 135383056 - 135383056 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1249	234
OR10C1	442194	broad.mit.edu	37	6	29408232	29408232	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29408232C>T	ENST00000444197.2	+	1	1150	c.440C>T	c.(439-441)gCg>gTg	p.A147V	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCTGGGTCGGCGTGGGCCTGT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	91	87			NA	NA	6		NA											NA				29408232		1509	2709	4218	SO:0001583	missense				CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474	442194	442194		GPCR / Class A : Olfactory receptors	8165	protein-coding gene	gene with protein product			olfactory receptor, family 10, subfamily C, member 2, olfactory receptor, family 10, subfamily C, member 1	OR10C2	NA		Standard		NM_013941	NA	Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.440C>T	6.37:g.29408232C>T	ENSP00000419119:p.Ala147Val	NA	Q5SUN7|Q96R18	37	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434952	0.43224	.	.	ENSG00000206474	ENST00000444197	T	0.34859	1.34	3.53	3.53	0.40419	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38897	N	0.001526	T	0.29028	0.0721	N	0.16708	0.43	0.09310	N	1	D	0.67145	0.996	D	0.67725	0.953	T	0.18650	-1.0330	10	0.87932	D	0	.	14.9009	0.70678	0.0:1.0:0.0:0.0	.	147	Q96KK4	O10C1_HUMAN	V	147	ENSP00000419119:A147V	ENSP00000419119:A147V	A	+	2	0	OR10C1	29516211	0.000000	0.05858	0.027000	0.17364	0.033000	0.12548	-1.281000	0.02802	1.805000	0.52779	0.508000	0.49915	GCG	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076415.2		+	ENST00000444197.2	Missense_Mutation	SNP	6 : 29408232 - 29408232 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	628	140
PAX2	5076	broad.mit.edu	37	10	102584662	102584662	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102584662C>T	ENST00000361791.3	+	9	1575	c.1025C>T	c.(1024-1026)gCt>gTt	p.A342V	PAX2_ENST00000355243.3_Intron|PAX2_ENST00000428433.1_Intron|PAX2_ENST00000556085.1_Intron|PAX2_ENST00000370296.2_Missense_Mutation_p.A365V	NM_003988.3	NP_003979.2	Q02962	PAX2_HUMAN	paired box 2	169					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TCCTTAGAGGCTGCAGTTGGT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	126	131			NA	NA	10		NA											NA				102584662		2203	4300	6503	SO:0001583	missense				CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891	5076	5076		Paired boxes, Homeoboxes / PRD class	8616	protein-coding gene	gene with protein product		167409	paired box gene 2		NA	8431641, 7981748	Standard		NM_003990	NA	Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000361791.3:c.1025C>T	10.37:g.102584662C>T	ENSP00000355069:p.Ala342Val	NA	Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	37	CCDS7499.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719917	0.68844	.	.	ENSG00000075891	ENST00000370296;ENST00000361791	T;T	0.32515	1.45;1.45	4.0	3.07	0.35406	.	.	.	.	.	T	0.33760	0.0874	.	.	.	0.09310	N	1	D	0.55172	0.97	P	0.54889	0.763	T	0.10965	-1.0607	8	0.15066	T	0.55	.	9.7996	0.40755	0.0:0.7889:0.2111:0.0	.	342	Q02962-4	.	V	365;342	ENSP00000359319:A365V;ENSP00000355069:A342V	ENSP00000355069:A342V	A	+	2	0	PAX2	102574652	0.857000	0.29778	0.106000	0.21319	0.988000	0.76386	0.321000	0.19558	0.758000	0.33059	0.561000	0.74099	GCT	PAX2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049869.2		+	ENST00000361791.3	Missense_Mutation	SNP	10 : 102584662 - 102584662 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	467	83
HNRNPA0	10949	broad.mit.edu	37	5	137089524	137089524	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137089524C>T	ENST00000314940.4	-	1	515	c.232G>A	c.(232-234)Gag>Aag	p.E78K		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	78	RRM 1.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|RNA binding			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGCTTCAGCTCCACAGTGTTG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	50	49			NA	NA	5		NA											NA				137089524		2201	4298	6499	SO:0001583	missense			U23803	CCDS4193.1	5q31	2013-02-12		2007-08-16	ENSG00000177733	ENSG00000177733	10949	10949		RNA binding motif (RRM) containing	5030	protein-coding gene	gene with protein product		609409		HNRPA0	NA	7585247	Standard	NM_006805	NM_006805	NA	Approved	hnRNPA0	uc003lbt.3	Q13151	OTTHUMG00000129156	ENST00000314940.4:c.232G>A	5.37:g.137089524C>T	ENSP00000316042:p.Glu78Lys	NA	Q6IB18	37	CCDS4193.1	.	.	.	.	.	.	.	.	.	.	C	34	5.323860	0.95708	.	.	ENSG00000177733	ENST00000314940	D	0.91894	-2.93	4.97	4.08	0.47627	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	U	0.000000	D	0.94512	0.8233	M	0.66939	2.045	0.80722	D	1	D	0.71674	0.998	P	0.61477	0.889	D	0.94705	0.7887	10	0.87932	D	0	.	14.475	0.67539	0.1482:0.8517:0.0:0.0	.	78	Q13151	ROA0_HUMAN	K	78	ENSP00000316042:E78K	ENSP00000316042:E78K	E	-	1	0	HNRNPA0	137117423	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.027000	0.70881	1.036000	0.39998	0.305000	0.20034	GAG	HNRNPA0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251221.1		-	ENST00000314940.4	Missense_Mutation	SNP	5 : 137089524 - 137089524 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	526	19
ANKZF1	55139	broad.mit.edu	37	2	220100257	220100257	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220100257C>T	ENST00000323348.5	+	11	1927	c.1753C>T	c.(1753-1755)Cga>Tga	p.R585*	ANKZF1_ENST00000409849.1_Nonsense_Mutation_p.R375*|ANKZF1_ENST00000410034.3_Nonsense_Mutation_p.R585*	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	585						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)		TAATGAGTTCCGAAGGTTCAT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	stop/ARG,stop/ARG	0,3860		0,0,1930	102	93	96		1753,1753	5.5	1	2		96	1,8281		0,1,4140	no	stop-gained,stop-gained	ANKZF1	NM_001042410.1,NM_018089.2	,	0,1,6070	TT,TC,CC	NA	0.0121,0.0,0.0082	,	585/727,585/727	220100257	1,12141	1930	4141	6071	SO:0001587	stop_gained			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.1753C>T	2.37:g.220100257C>T	ENSP00000321617:p.Arg585*	NA	Q9NVZ4	37	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	C	40	8.291588	0.98745	0.0	1.21E-4	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.4972	19.5125	0.95148	0.0:1.0:0.0:0.0	.	.	.	.	X	585;375;585	.	ENSP00000321617:R585X	R	+	1	2	ANKZF1	219808501	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.100000	0.64560	2.840000	0.97914	0.655000	0.94253	CGA	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335790.1		+	ENST00000323348.5	Nonsense_Mutation	SNP	2 : 220100257 - 220100257 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	506	95
ZNF155	7711	broad.mit.edu	37	19	44501451	44501451	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44501451A>C	ENST00000407951.2	+	6	1668	c.1475A>C	c.(1474-1476)aAa>aCa	p.K492T	ZNF155_ENST00000270014.2_Missense_Mutation_p.K481T|ZNF155_ENST00000590615.1_Missense_Mutation_p.K481T|RP11-15A1.7_ENST00000589021.1_RNA|RP11-15A1.7_ENST00000586860.1_RNA	NM_001260488.1	NP_001247417	Q12901	ZN155_HUMAN	zinc finger protein 155	481						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				CACTGCCAGAAAAAACCATTC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(61;554 1277 20909 42067 42312)							NA				0													89	95	93			NA	NA	19		NA											NA				44501451		2203	4300	6503	SO:0001583	missense			U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920	7711	7711		Zinc fingers, C2H2-type, -	12940	protein-coding gene	gene with protein product		604086	zinc finger protein 155 (pHZ-96)		NA	7557990	Standard	NM_003445	NM_001260486	NA	Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000407951.2:c.1475A>C	19.37:g.44501451A>C	ENSP00000385163:p.Lys492Thr	NA	A2BDE6|B2RB63|Q6AZZ8|Q9UIE1|Q9UK14	37	CCDS58668.1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.554531	0.45487	.	.	ENSG00000204920	ENST00000407951;ENST00000270014	T;T	0.11277	2.79;2.79	2.83	2.83	0.33086	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14270	0.0345	N	0.25380	0.74	0.09310	N	1	P;P	0.42296	0.775;0.605	P;P	0.51297	0.665;0.665	T	0.12811	-1.0533	9	0.87932	D	0	.	10.1978	0.43065	1.0:0.0:0.0:0.0	.	492;481	B4DM95;Q12901	.;ZN155_HUMAN	T	492;481	ENSP00000385163:K492T;ENSP00000270014:K481T	ENSP00000270014:K481T	K	+	2	0	ZNF155	49193291	0.988000	0.35896	0.005000	0.12908	0.083000	0.17756	3.462000	0.53042	1.279000	0.44446	0.459000	0.35465	AAA	ZNF155-002	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460073.1		+	ENST00000407951.2	Missense_Mutation	SNP	19 : 44501451 - 44501451 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	836	158
DST	667	broad.mit.edu	37	6	56484401	56484401	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56484401A>G	ENST00000370765.6	-	23	4538	c.4431T>C	c.(4429-4431)aaT>aaC	p.N1477N	DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370788.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	5149					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTTTTTCATGATTAAGAGATT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	95	94			NA	NA	6		NA											NA				56484401		2203	4300	6503	SO:0001819	synonymous_variant			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914	667	667		EF-hand domain containing	1090	protein-coding gene	gene with protein product		113810	bullous pemphigoid antigen 1, 230/240kDa	BPAG1	NA	2461961, 2276744	Standard	NM_001723	NM_001144770	NA	Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.4431T>C	6.37:g.56484401A>G		NA	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	37	CCDS4959.1																																																																																			DST-010	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041027.2		-	ENST00000370765.6	Silent	SNP	6 : 56484401 - 56484401 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	492	79
TTN	7273	broad.mit.edu	37	2	179621175	179621175	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179621175C>T	ENST00000589042.1	-	46	11252	c.11028G>A	c.(11026-11028)acG>acA	p.T3676T	TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.T3505T|TTN_ENST00000360870.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3361	Ig-like 22.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAATTGAGCCGTGTCACCGC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	86	87			NA	NA	2		NA											NA				179621175		1921	4117	6038	SO:0001819	synonymous_variant			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.11028G>A	2.37:g.179621175C>T		NA	E7ET18	37	CCDS59435.1																																																																																			TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Silent	SNP	2 : 179621175 - 179621175 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	218	66
AP3B1	8546	broad.mit.edu	37	5	77458776	77458776	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:77458776C>A	ENST00000519295.1	-	13	1355		c.e13-1		AP3B1_ENST00000255194.6_Splice_Site	NM_003664.3	NP_003655.3	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	NA					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TCACATAGGTCTAAAAGATAT	0.348		NA							Hermansky-Pudlak syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	86	87			NA	NA	5		NA											NA				77458776		2203	4299	6502	SO:0001630	splice_region_variant	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842	8546	8546			566	protein-coding gene	gene with protein product		603401			NA	9182526, 9151686	Standard		NM_003664	NA	Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000519295.1:c.1084-1G>T	5.37:g.77458776C>A		NA	O00580|Q7Z393|Q9HD66	37		.	.	.	.	.	.	.	.	.	.	C	24.5	4.543789	0.86022	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4768	0.87661	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AP3B1	77494532	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.783000	0.85696	2.728000	0.93425	0.650000	0.86243	.	AP3B1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000369905.1	Intron	-	ENST00000519295.1	Splice_Site	SNP	5 : 77458776 - 77458776 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	517	84
NCOR1	9611	broad.mit.edu	37	17	16049816	16049816	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16049816T>C	ENST00000268712.3	-	10	1213	c.956A>G	c.(955-957)gAg>gGg	p.E319G	NCOR1_ENST00000395851.1_Missense_Mutation_p.E319G|NCOR1_ENST00000395848.1_Missense_Mutation_p.E210G	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	319	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CACTTTTTTCTCCCATGCCTC	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	106	108			NA	NA	17		NA											NA				16049816		2203	4300	6503	SO:0001583	missense			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027	9611	9611			7672	protein-coding gene	gene with protein product	thyroid hormone- and retinoic acid receptor-associated corepressor 1, protein phosphatase 1, regulatory subunit 109	600849	nuclear receptor co-repressor 1		NA	7566114, 9724795	Standard	NM_006311	NM_006311	NA	Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.956A>G	17.37:g.16049816T>C	ENSP00000268712:p.Glu319Gly	NA	B3DLF8|Q9UPV5|Q9UQ18	37	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	T	15.16	2.751672	0.49362	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000458113;ENST00000395848;ENST00000411510;ENST00000436828	T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.86151	0.5864	L	0.44542	1.39	0.80722	D	1	D;D;D;P;D;D	0.89917	0.974;0.974;0.974;0.92;0.978;1.0	P;P;P;P;P;D	0.85130	0.776;0.776;0.776;0.573;0.867;0.997	D	0.87494	0.2429	10	0.87932	D	0	-11.7257	15.2981	0.73925	0.0:0.0:0.0:1.0	.	328;319;319;210;319;319	E7EU93;E7EV02;E7EW50;E9PGV6;O75376;O75376-2	.;.;.;.;NCOR1_HUMAN;.	G	319;319;210;328;210;319;328	ENSP00000268712:E319G;ENSP00000379192:E319G;ENSP00000379189:E210G;ENSP00000407998:E319G;ENSP00000387727:E328G	ENSP00000268712:E319G	E	-	2	0	NCOR1	15990541	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.997000	0.88414	2.270000	0.75569	0.459000	0.35465	GAG	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131751.5		-	ENST00000268712.3	Missense_Mutation	SNP	17 : 16049816 - 16049816 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	77
CNTN2	6900	broad.mit.edu	37	1	205027766	205027766	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205027766C>A	ENST00000331830.4	+	5	746	c.462C>A	c.(460-462)ccC>ccA	p.P154P		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	154	Ig-like C2-type 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGATGTTGCCCTGTAACCCAC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(183;2548 2817 37099 41192)							NA				0													44	44	44			NA	NA	1		NA											NA				205027766		2203	4300	6503	SO:0001819	synonymous_variant			X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144	6900	6900		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	2172	protein-coding gene	gene with protein product		190197		TAX, AXT	NA	8307567, 8586965	Standard	NM_005076	NM_005076	NA	Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.462C>A	1.37:g.205027766C>A		NA	P78432|Q5T054	37	CCDS1449.1																																																																																			CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090080.3		+	ENST00000331830.4	Silent	SNP	1 : 205027766 - 205027766 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	204	43
ARHGAP12	94134	broad.mit.edu	37	10	32099638	32099638	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32099638C>A	ENST00000375250.5	-	14	2140	c.1899G>T	c.(1897-1899)caG>caT	p.Q633H	ARHGAP12_ENST00000396144.4_Missense_Mutation_p.Q658H|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.Q663H|ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.Q611H|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.Q611H	NM_001270696.1|NM_001270698.1	NP_001257625.1|NP_001257627.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	663					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				CATTCTCTCTCTGACACAGAT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	122	122			NA	NA	10		NA											NA				32099638		2203	4300	6503	SO:0001583	missense			AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322	94134	94134		Rho GTPase activating proteins, Pleckstrin homology (PH) domain containing	16348	protein-coding gene	gene with protein product		610577			NA	11854031	Standard		NM_001270695	NA	Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000375250.5:c.1899G>T	10.37:g.32099638C>A	ENSP00000364399:p.Gln633His	NA	B1ANY0|B1ANY1|B1ANY2|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	37	CCDS59215.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.832659	0.32421	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	5.55	3.68	0.42216	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.054607	0.85682	D	0.000000	T	0.31263	0.0791	L	0.31926	0.97	0.53688	D	0.999977	B;B;B;B;B	0.31752	0.124;0.095;0.228;0.228;0.338	B;B;B;B;B	0.30029	0.052;0.056;0.051;0.051;0.11	T	0.12760	-1.0535	10	0.87932	D	0	.	10.4217	0.44354	0.0:0.7548:0.0:0.2452	.	616;633;658;663;611	Q1RLN5;Q8IWW6-2;Q504X1;Q8IWW6;Q8IWW6-3	.;.;.;RHG12_HUMAN;.	H	611;633;663;658;611	ENSP00000310984:Q611H;ENSP00000364399:Q633H;ENSP00000345808:Q663H;ENSP00000379448:Q658H;ENSP00000364394:Q611H	ENSP00000310984:Q611H	Q	-	3	2	ARHGAP12	32139644	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	0.987000	0.29603	0.724000	0.32296	-1.151000	0.01829	CAG	ARHGAP12-008	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047464.1		-	ENST00000375250.5	Missense_Mutation	SNP	10 : 32099638 - 32099638 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	426	60
DDX18	8886	broad.mit.edu	37	2	118582670	118582670	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:118582670C>T	ENST00000263239.2	+	9	1489	c.1361C>T	c.(1360-1362)gCc>gTc	p.A454V		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	454	Helicase C-terminal.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CCCGTCTTGGCCATTCATGTA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	145	145			NA	NA	2		NA											NA				118582670		2203	4300	6503	SO:0001583	missense			X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205	8886	8886		DEAD-boxes	2741	protein-coding gene	gene with protein product		606355	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)		NA	8861962	Standard	NM_006773	NM_006773	NA	Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.1361C>T	2.37:g.118582670C>T	ENSP00000263239:p.Ala454Val	NA	Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	37	CCDS2120.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784446	0.49997	.	.	ENSG00000088205	ENST00000263239;ENST00000539346;ENST00000415038	T;T	0.74526	-0.85;-0.85	5.17	5.17	0.71159	Helicase, C-terminal (3);	0.046893	0.85682	N	0.000000	T	0.69753	0.3146	N	0.21508	0.67	0.80722	D	1	P	0.38167	0.621	P	0.44897	0.463	T	0.67473	-0.5662	10	0.30078	T	0.28	.	19.0359	0.92978	0.0:1.0:0.0:0.0	.	454	Q9NVP1	DDX18_HUMAN	V	454;193;118	ENSP00000263239:A454V;ENSP00000415604:A118V	ENSP00000263239:A454V	A	+	2	0	DDX18	118299140	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.446000	0.66600	2.583000	0.87209	0.650000	0.86243	GCC	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000129632.3		+	ENST00000263239.2	Missense_Mutation	SNP	2 : 118582670 - 118582670 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	705	73
ADCY3	109	broad.mit.edu	37	2	25042948	25042948	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25042948G>A	ENST00000405392.1	-	19	2228	c.2049C>T	c.(2047-2049)taC>taT	p.Y683Y	ADCY3_ENST00000260600.5_Silent_p.Y1096Y|CENPO_ENST00000380834.2_3'UTR|CENPO_ENST00000473706.1_3'UTR			O60266	ADCY3_HUMAN	adenylate cyclase 3	1096					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					AGCGGAAGCCGTACTCTCGGA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	48	50			NA	NA	2		NA											NA				25042948		2203	4300	6503	SO:0001819	synonymous_variant			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	109	109	4.6.1.1	Adenylate cyclases	234	protein-coding gene	gene with protein product		600291			NA	9920776	Standard		NM_004036	NA	Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000405392.1:c.2049C>T	2.37:g.25042948G>A		NA	Q53T54|Q9UDB1	37																																																																																				ADCY3-201	KNOWN	basic|exp_conf	protein_coding	NA	protein_coding			-	ENST00000405392.1	Silent	SNP	2 : 25042948 - 25042948 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	282	39
SLC37A3	84255	broad.mit.edu	37	7	140051074	140051074	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140051074G>A	ENST00000326232.9	-	9	1084	c.881C>T	c.(880-882)cCg>cTg	p.P294L	SLC37A3_ENST00000340308.3_Splice_Site_p.P294L|SLC37A3_ENST00000429996.2_3'UTR|SLC37A3_ENST00000447932.2_Splice_Site_p.P294L	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	294					carbohydrate transport|transmembrane transport	integral to membrane				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					GGTCCTTACCGGTATGACTCC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(133;211 1716 4665 11387 37873)							NA				0													116	93	101			NA	NA	7		NA											NA				140051074		2203	4300	6503	SO:0001630	splice_region_variant			AK074823	CCDS5858.1, CCDS5859.1, CCDS75669.1	7q34	2013-07-17	2013-07-17		ENSG00000157800	ENSG00000157800	84255	84255		Solute carriers	20651	protein-coding gene	gene with protein product					NA		Standard	NM_032295	NM_001287498	NA	Approved	DKFZp761N0624	uc003vvo.3	Q8NCC5	OTTHUMG00000157343	ENST00000326232.9:c.882+1C>T	7.37:g.140051074G>A		NA	Q6PIU7|Q86SS4|Q9BQG7	37	CCDS5859.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.99|12.99	2.104485|2.104485	0.37145|0.37145	.|.	.|.	ENSG00000157800|ENSG00000157800	ENST00000340308;ENST00000447932;ENST00000326232|ENST00000485734	T;T;T|.	0.53640|.	0.61;0.61;0.61|.	4.9|4.9	2.36|2.36	0.29203|0.29203	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.232813|.	0.46442|.	N|.	0.000296|.	T|T	0.37348|0.37348	0.1000|0.1000	N|N	0.21282|0.21282	0.65|0.65	0.80722|0.80722	D|D	1|1	B;B;B|.	0.14012|.	0.003;0.009;0.003|.	B;B;B|.	0.15052|.	0.005;0.012;0.009|.	T|T	0.08659|0.08659	-1.0711|-1.0711	10|5	0.33141|.	T|.	0.24|.	-48.9586|-48.9586	4.9445|4.9445	0.13982|0.13982	0.5043:0.0:0.4957:0.0|0.5043:0.0:0.4957:0.0	.|.	294;294;294|.	Q8NCC5-2;Q8NCC5-3;Q8NCC5|.	.;.;SPX3_HUMAN|.	L|C	294|73	ENSP00000343358:P294L;ENSP00000397481:P294L;ENSP00000321498:P294L|.	ENSP00000321498:P294L|.	P|R	-|-	2|1	0|0	SLC37A3|SLC37A3	139697543|139697543	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.926000|0.926000	0.56050|0.56050	1.871000|1.871000	0.39539|0.39539	1.024000|1.024000	0.39682|0.39682	0.650000|0.650000	0.86243|0.86243	CCG|CGT	SLC37A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348492.1	Missense_Mutation	-	ENST00000326232.9	Splice_Site	SNP	7 : 140051074 - 140051074 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	291	31
OPN4	94233	broad.mit.edu	37	10	88419688	88419688	+	Silent	SNP	C	C	T	rs141316756		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88419688C>T	ENST00000241891.5	+	6	1004	c.837C>T	c.(835-837)ggC>ggT	p.G279G	OPN4_ENST00000372071.2_Silent_p.G290G	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	279					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						AGGGCAATGGCGAGTCCCTGT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	75	84			NA	NA	10		NA											NA				88419688		2203	4300	6503	SO:0001819	synonymous_variant			AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375	94233	94233		GPCR / Class A : Opsin receptors	14449	protein-coding gene	gene with protein product	melanopsin	606665	opsin 4 (melanopsin)		NA	10632589	Standard	NM_033282	NM_001030015	NA	Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.837C>T	10.37:g.88419688C>T		NA	B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	37	CCDS7376.1																																																																																			OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049158.2		+	ENST00000241891.5	Silent	SNP	10 : 88419688 - 88419688 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	363	54
PCNXL2	80003	broad.mit.edu	37	1	233344327	233344327	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233344327C>T	ENST00000258229.9	-	13	3034	c.2800G>A	c.(2800-2802)Gtt>Att	p.V934I	PCNXL2_ENST00000430153.1_Missense_Mutation_p.V233I|PCNXL2_ENST00000488780.2_Missense_Mutation_p.V67I	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	NA						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CCATACACAACGTAACTGGGA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	103	105			NA	NA	1		NA											NA				233344327		1914	4115	6029	SO:0001583	missense			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749	80003	80003			8736	protein-coding gene	gene with protein product			pecanex (Drosophila)-like 2		NA	12477932	Standard	NM_014801	NM_014801	NA	Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.2800G>A	1.37:g.233344327C>T	ENSP00000258229:p.Val934Ile	NA	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	37	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	c	5.277	0.236571	0.10023	.	.	ENSG00000135749	ENST00000258229;ENST00000488780;ENST00000518351;ENST00000430153	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	5.8	-5.52	0.02560	.	.	.	.	.	T	0.46405	0.1391	L	0.42245	1.32	0.09310	N	1	B;B	0.18741	0.03;0.001	B;B	0.12156	0.007;0.001	T	0.31052	-0.9957	9	0.36615	T	0.2	.	14.7768	0.69736	0.0:0.3611:0.0:0.6389	.	233;934	A6NKB5-2;A6NKB5	.;PCX2_HUMAN	I	934;67;103;233	ENSP00000258229:V934I;ENSP00000430820:V67I;ENSP00000429231:V103I;ENSP00000394703:V233I	ENSP00000258229:V934I	V	-	1	0	PCNXL2	231410950	0.000000	0.05858	0.000000	0.03702	0.366000	0.29705	-0.854000	0.04299	-1.021000	0.03350	-2.757000	0.00123	GTT	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092480.3		-	ENST00000258229.9	Missense_Mutation	SNP	1 : 233344327 - 233344327 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	314	24
FAM166A	401565	broad.mit.edu	37	9	140138683	140138683	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140138683G>T	ENST00000344774.4	-	6	859	c.805C>A	c.(805-807)Ccc>Acc	p.P269T		NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	269										kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						TGGTTGCTGGGCCAGTGTGTT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	99	109			NA	NA	9		NA											NA				140138683		2203	4300	6503	SO:0001583	missense			BC132916	CCDS35186.1	9q34.3	2008-08-08			ENSG00000188163	ENSG00000188163	401565	401565			33818	protein-coding gene	gene with protein product					NA		Standard	NM_001001710	XR_245332	NA	Approved		uc004cmi.1	Q6J272	OTTHUMG00000159545	ENST00000344774.4:c.805C>A	9.37:g.140138683G>T	ENSP00000344729:p.Pro269Thr	NA	A6NND9|Q8N830	37	CCDS35186.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685172	0.47991	.	.	ENSG00000188163	ENST00000344774	.	.	.	4.99	4.99	0.66335	.	0.080970	0.50627	D	0.000108	T	0.74099	0.3672	L	0.54908	1.71	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70543	-0.4843	9	0.28530	T	0.3	-18.8756	16.0952	0.81114	0.0:0.0:1.0:0.0	.	269	Q6J272	F166A_HUMAN	T	269	.	ENSP00000344729:P269T	P	-	1	0	FAM166A	139258504	1.000000	0.71417	0.995000	0.50966	0.065000	0.16274	6.678000	0.74508	2.474000	0.83562	0.549000	0.68633	CCC	FAM166A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356125.1		-	ENST00000344774.4	Missense_Mutation	SNP	9 : 140138683 - 140138683 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	295	19
UNC79	57578	broad.mit.edu	37	14	94044282	94044282	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94044282G>A	ENST00000553484.1	+	18	2460	c.2306G>A	c.(2305-2307)cGt>cAt	p.R769H	UNC79_ENST00000393151.2_Missense_Mutation_p.R769H|UNC79_ENST00000555664.1_Missense_Mutation_p.R769H|UNC79_ENST00000256339.4_Missense_Mutation_p.R592H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	769						integral to membrane		p.R769H(1)|p.R592H(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AGTCCTTTGCGTAGTCCGTTT	0.438		NA											G	1	5e-04	NA	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	0.001	SNP								NA				2	Substitution - Missense(2)	prostate(2)											244	223	230			NA	NA	14		NA											NA				94044282		2203	4300	6503	SO:0001583	missense			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958	57578	57578			19966	protein-coding gene	gene with protein product			KIAA1409	KIAA1409	NA	20714347, 21040849	Standard	XM_028395	NM_020818	NA	Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000553484.1:c.2306G>A	14.37:g.94044282G>A	ENSP00000451360:p.Arg769His	NA	Q6ZUT7	37		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	14.40	2.523875	0.44866	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	5.33	3.52	0.40303	.	0.058560	0.64402	N	0.000005	T	0.15478	0.0373	L	0.29908	0.895	0.42683	D	0.993556	B	0.22276	0.067	B	0.14578	0.011	T	0.04320	-1.0960	10	0.40728	T	0.16	-5.664	11.9231	0.52803	0.1415:0.0:0.8585:0.0	.	769	C9JQL1	.	H	592;769;769;769;769	ENSP00000256339:R592H;ENSP00000450868:R769H;ENSP00000451360:R769H;ENSP00000376858:R769H	ENSP00000256339:R592H	R	+	2	0	KIAA1409	93114035	1.000000	0.71417	0.962000	0.40283	0.885000	0.51271	4.110000	0.57831	0.654000	0.30846	-0.759000	0.03464	CGT	UNC79-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000074289.4		+	ENST00000553484.1	Missense_Mutation	SNP	14 : 94044282 - 94044282 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1099	206
GREB1	9687	broad.mit.edu	37	2	11733252	11733252	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11733252G>A	ENST00000381486.2	+	11	1996	c.1696G>A	c.(1696-1698)Gga>Aga	p.G566R	GREB1_ENST00000234142.5_Splice_Site_p.G566R	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	566						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CGCCGTCACCGGTGAGCTCTG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(39;850 945 2785 23371 33093)							NA				0													14	14	14			NA	NA	2		NA											NA				11733252		2026	4152	6178	SO:0001630	splice_region_variant				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208	9687	9687			24885	protein-coding gene	gene with protein product	gene regulated by estrogen in breast cancer	611736			NA	11103799	Standard	NM_014668	NM_014668	NA	Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.1696+1G>A	2.37:g.11733252G>A		NA	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475001	0.84640	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000432985	T;T;T	0.61742	2.45;2.45;0.08	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.76877	0.4049	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80306	-0.1438	10	0.87932	D	0	.	18.3141	0.90213	0.0:0.0:1.0:0.0	.	200;566	C9JIG0;Q4ZG55	.;GREB1_HUMAN	R	566;566;200	ENSP00000370896:G566R;ENSP00000234142:G566R;ENSP00000403886:G200R	ENSP00000234142:G566R	G	+	1	0	GREB1	11650703	1.000000	0.71417	0.987000	0.45799	0.387000	0.30353	9.306000	0.96204	2.332000	0.79248	0.591000	0.81541	GGA	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280490.1	Missense_Mutation	+	ENST00000381486.2	Splice_Site	SNP	2 : 11733252 - 11733252 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	114	22
SIGLEC1	6614	broad.mit.edu	37	20	3673670	3673670	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3673670C>A	ENST00000344754.4	-	14	3616	c.3617G>T	c.(3616-3618)aGc>aTc	p.S1206I	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S1206I	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1206	Ig-like C2-type 12.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						ACCGGCGTGGCTGAGGGCCAG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	18	17			NA	NA	20		NA											NA				3673670		2175	4271	6446	SO:0001583	missense			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827	6614	6614		CD molecules, Sialic acid binding Ig-like lectins, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	11127	protein-coding gene	gene with protein product		600751	sialoadhesin	SN	NA	8530048	Standard	NM_023068	XM_006723610	NA	Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3617G>T	20.37:g.3673670C>A	ENSP00000341141:p.Ser1206Ile	NA	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	37	CCDS13060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.51|12.51	1.958818|1.958818	0.34565|0.34565	.|.	.|.	ENSG00000088827|ENSG00000088827	ENST00000419548|ENST00000344754;ENST00000202578	.|T;T	.|0.13089	.|2.62;2.62	4.74|4.74	3.8|3.8	0.43715|0.43715	.|Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.47852	.|D	.|0.000220	T|T	0.26159|0.26159	0.0638|0.0638	L|L	0.60904|0.60904	1.88|1.88	0.33759|0.33759	D|D	0.621586|0.621586	.|D;D	.|0.71674	.|0.998;0.997	.|D;D	.|0.66716	.|0.946;0.938	T|T	0.30208|0.30208	-0.9986|-0.9986	5|10	.|0.22706	.|T	.|0.39	.|.	8.684|8.684	0.34225|0.34225	0.0:0.8968:0.0:0.1032|0.0:0.8968:0.0:0.1032	.|.	.|1206;1206	.|Q9BZZ2;Q9BZZ2-3	.|SN_HUMAN;.	H|I	19|1206	.|ENSP00000341141:S1206I;ENSP00000202578:S1206I	.|ENSP00000202578:S1206I	Q|S	-|-	3|2	2|0	SIGLEC1|SIGLEC1	3621670|3621670	0.012000|0.012000	0.17670|0.17670	0.995000|0.995000	0.50966|0.50966	0.619000|0.619000	0.37552|0.37552	0.058000|0.058000	0.14301|0.14301	1.239000|1.239000	0.43787|0.43787	0.655000|0.655000	0.94253|0.94253	CAG|AGC	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077761.2		-	ENST00000344754.4	Missense_Mutation	SNP	20 : 3673670 - 3673670 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	284	12
ABCA3	21	broad.mit.edu	37	16	2328417	2328417	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2328417G>A	ENST00000382381.3	-	29	5127	c.4416C>T	c.(4414-4416)atC>atT	p.I1472I	ABCA3_ENST00000301732.5_Silent_p.I1530I			Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1530	ABC transporter 2.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CAGGCTCTCCGATCAGGGCGA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4396		0,0,2198	72	66	68		4590	-10.8	0	16		68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ABCA3	NM_001089.2		0,1,6497	AA,AG,GG	NA	0.0116,0.0,0.0077		1530/1705	2328417	1,12995	2198	4300	6498	SO:0001819	synonymous_variant			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972	21	21		ATP binding cassette transporters / subfamily A	33	protein-coding gene	gene with protein product		601615		ABC3	NA	8706931	Standard	NM_001089	NM_001089	NA	Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000382381.3:c.4416C>T	16.37:g.2328417G>A		NA	B2RU09|Q54A95|Q92473	37																																																																																				ABCA3-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000435440.1		-	ENST00000382381.3	Silent	SNP	16 : 2328417 - 2328417 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	492	97
LEMD3	23592	broad.mit.edu	37	12	65632541	65632541	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:65632541G>A	ENST00000308330.2	+	6	1894	c.1868G>A	c.(1867-1869)cGt>cAt	p.R623H		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	623					negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TTTTGGTGTCGTTTTCGACGT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													202	175	184			NA	NA	12		NA											NA				65632541		2203	4300	6503	SO:0001583	missense			AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106	23592	23592			28887	protein-coding gene	gene with protein product		607844			NA	10671519, 15489854	Standard		NM_014319	NA	Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.1868G>A	12.37:g.65632541G>A	ENSP00000308369:p.Arg623His	NA	Q9NT47|Q9NYA5	37	CCDS8972.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795785	0.90453	.	.	ENSG00000174106	ENST00000308330	T	0.52983	0.64	4.89	4.89	0.63831	Inner nuclear membrane protein MAN1 (1);	0.000000	0.85682	D	0.000000	T	0.68833	0.3044	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68758	-0.5324	9	.	.	.	-9.3081	18.9427	0.92610	0.0:0.0:1.0:0.0	.	623	Q9Y2U8	MAN1_HUMAN	H	623	ENSP00000308369:R623H	.	R	+	2	0	LEMD3	63918808	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.295000	0.89937	2.653000	0.90120	0.655000	0.94253	CGT	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401312.2		+	ENST00000308330.2	Missense_Mutation	SNP	12 : 65632541 - 65632541 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	352	64
TJP2	9414	broad.mit.edu	37	9	71851087	71851087	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71851087C>A	ENST00000377245.4	+	13	2132	c.1924C>A	c.(1924-1926)Ctg>Atg	p.L642M	TJP2_ENST00000265384.7_Missense_Mutation_p.L642M|TJP2_ENST00000348208.4_Missense_Mutation_p.L642M|TJP2_ENST00000453658.2_Missense_Mutation_p.L619M|TJP2_ENST00000535702.1_Missense_Mutation_p.L646M|TJP2_ENST00000539225.1_Missense_Mutation_p.L673M	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	642	SH3.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						TGACGGCAAGCTGGGCAACTG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	96	99			NA	NA	9		NA											NA				71851087		2203	4300	6503	SO:0001583	missense			L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139	9414	9414			11828	protein-coding gene	gene with protein product	Friedreich ataxia region gene X104 (tight junction protein ZO-2), zona occludens 2	607709	deafness, autosomal dominant 51	DFNA51	NA	7951235, 20602916	Standard	NM_201629	NM_001170630	NA	Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.1924C>A	9.37:g.71851087C>A	ENSP00000366453:p.Leu642Met	NA	A2A3H9|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	37	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977115	0.74360	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.10763	2.86;2.84;2.86;2.86;2.85;2.89	5.43	4.53	0.55603	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.64402	D	0.000002	T	0.31482	0.0798	M	0.70275	2.135	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.982;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.942;0.999;1.0;1.0	T	0.03060	-1.1077	10	0.45353	T	0.12	.	14.3256	0.66518	0.0:0.9285:0.0:0.0715	.	673;646;642;642;642	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	M	619;642;642;642;646;673	ENSP00000392178:L619M;ENSP00000366453:L642M;ENSP00000345893:L642M;ENSP00000265384:L642M;ENSP00000442090:L646M;ENSP00000438262:L673M	ENSP00000265384:L642M	L	+	1	2	TJP2	71040907	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	4.856000	0.62932	1.433000	0.47394	0.491000	0.48974	CTG	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052572.2		+	ENST00000377245.4	Missense_Mutation	SNP	9 : 71851087 - 71851087 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	393	71
NBEAL2	23218	broad.mit.edu	37	3	47049628	47049628	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47049628C>T	ENST00000450053.3	+	50	7850	c.7671C>T	c.(7669-7671)agC>agT	p.S2557S	NBEAL2_ENST00000292309.5_Silent_p.S2373S|NBEAL2_ENST00000383740.2_Silent_p.S806S	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2557							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CTGCAGTGAGCTGTGTGGCCA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	93	93			NA	NA	3		NA											NA				47049628		2174	4279	6453	SO:0001819	synonymous_variant			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796	23218	23218		WD repeat domain containing	31928	protein-coding gene	gene with protein product		614169			NA		Standard	XM_291064	NM_015175	NA	Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.7671C>T	3.37:g.47049628C>T		NA	O60288|Q6P994|Q6UX91|Q8NAC9	37	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	C	8.784	0.928973	0.18131	.	.	ENSG00000160796	ENST00000416683	.	.	.	5.16	0.958	0.19619	.	.	.	.	.	T	0.44808	0.1311	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28618	-1.0038	4	.	.	.	.	3.9483	0.09358	0.0:0.4167:0.1761:0.4072	.	.	.	.	V	1845	.	.	A	+	2	0	NBEAL2	47024632	0.003000	0.15002	1.000000	0.80357	0.990000	0.78478	-1.291000	0.02775	0.656000	0.30886	0.561000	0.74099	GCT	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344363.3		+	ENST00000450053.3	Silent	SNP	3 : 47049628 - 47049628 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	246	35
FBN3	84467	broad.mit.edu	37	19	8175947	8175947	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8175947C>T	ENST00000600128.1	-	33	4619	c.4205G>A	c.(4204-4206)tGc>tAc	p.C1402Y	FBN3_ENST00000601739.1_Missense_Mutation_p.C1402Y|FBN3_ENST00000270509.2_Missense_Mutation_p.C1402Y			Q75N90	FBN3_HUMAN	fibrillin 3	1402	EGF-like 21; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTTACCCTGGCAGGCCCGGTG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	51	52			NA	NA	19		NA											NA				8175947		2203	4300	6503	SO:0001583	missense				CCDS12196.1	19p13	2008-02-05					84467	84467			18794	protein-coding gene	gene with protein product		608529			NA		Standard	NM_032447	NM_032447	NA	Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.4205G>A	19.37:g.8175947C>T	ENSP00000470498:p.Cys1402Tyr	NA	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.770983	0.49680	.	.	ENSG00000142449	ENST00000270509	D	0.99445	-5.91	3.67	3.67	0.42095	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.99654	0.9872	H	0.95745	3.715	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.97366	0.9973	10	0.87932	D	0	.	15.7061	0.77583	0.0:1.0:0.0:0.0	.	1402	Q75N90	FBN3_HUMAN	Y	1402	ENSP00000270509:C1402Y	ENSP00000270509:C1402Y	C	-	2	0	FBN3	8081947	1.000000	0.71417	0.993000	0.49108	0.116000	0.19942	7.091000	0.76923	1.758000	0.51981	0.462000	0.41574	TGC	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461428.2		-	ENST00000600128.1	Missense_Mutation	SNP	19 : 8175947 - 8175947 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	39
CCDC74A	90557	broad.mit.edu	37	2	132289243	132289243	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132289243C>T	ENST00000295171.6	+	4	689	c.551C>T	c.(550-552)gCc>gTc	p.A184V	CCDC74A_ENST00000467992.2_Missense_Mutation_p.A286V|CCDC74A_ENST00000409856.3_Missense_Mutation_p.A118V	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	184										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CAAGGCAAGGCCAGGCCCCAG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	25	21			NA	NA	2		NA											NA				132289243		1601	3760	5361	SO:0001583	missense				CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040	90557	90557			25197	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_138770	NM_138770	NA	Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.551C>T	2.37:g.132289243C>T	ENSP00000295171:p.Ala184Val	NA	Q6P4I5	37	CCDS2167.1	.	.	.	.	.	.	.	.	.	.	.	12.98	2.100255	0.37048	.	.	ENSG00000163040	ENST00000295171;ENST00000409856;ENST00000434330;ENST00000467992	T;T;T;T	0.57752	1.7;1.66;0.48;0.38	2.13	1.21	0.21127	.	0.703582	0.12409	N	0.471404	T	0.48205	0.1487	M	0.62723	1.935	0.09310	N	0.999999	P;P	0.46512	0.775;0.879	B;P	0.45167	0.436;0.472	T	0.41592	-0.9500	10	0.51188	T	0.08	-5.0991	4.0344	0.09724	0.0:0.7793:0.0:0.2207	.	118;184	Q96AQ1-2;Q96AQ1	.;CC74A_HUMAN	V	184;118;113;286	ENSP00000295171:A184V;ENSP00000387009:A118V;ENSP00000406839:A113V;ENSP00000444610:A286V	ENSP00000295171:A184V	A	+	2	0	CCDC74A	132005713	0.099000	0.21834	0.997000	0.53966	0.743000	0.42351	-0.591000	0.05753	1.192000	0.43071	0.194000	0.17425	GCC	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254570.2		+	ENST00000295171.6	Missense_Mutation	SNP	2 : 132289243 - 132289243 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	314	74
SNRNP40	9410	broad.mit.edu	37	1	31766156	31766156	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31766156G>A	ENST00000263694.4	-	2	199	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L	SNRNP40_ENST00000446633.2_Silent_p.L61L	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	61						catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						CCAGAGAGCAGCATGATTGGG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	75	80			NA	NA	1		NA											NA				31766156		2203	4300	6503	SO:0001819	synonymous_variant			AF090988	CCDS340.1	1p35.2	2013-01-09	2008-10-29	2008-10-29	ENSG00000060688	ENSG00000060688	9410	9410		WD repeat domain containing	30857	protein-coding gene	gene with protein product		607797	WD repeat domain 57 (U5 snRNP specific)	WDR57	NA	9774689, 9731529, 10788320	Standard	NM_004814	NM_004814	NA	Approved	PRP8BP, SPF38, PRPF8BP, HPRP8BP	uc009vtt.3	Q96DI7	OTTHUMG00000003790	ENST00000263694.4:c.181C>T	1.37:g.31766156G>A		NA	O75938|O95320	37	CCDS340.1																																																																																			SNRNP40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000010657.1		-	ENST00000263694.4	Silent	SNP	1 : 31766156 - 31766156 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	221	36
SORCS3	22986	broad.mit.edu	37	10	107016608	107016608	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:107016608C>T	ENST00000369701.3	+	25	3596	c.3369C>T	c.(3367-3369)agC>agT	p.S1123S		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1123						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTGGGCACAGCAGCTCAGCCA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(116;1497 1690 7108 13108 14106)							NA				0													159	134	143			NA	NA	10		NA											NA				107016608		2203	4300	6503	SO:0001819	synonymous_variant			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395	22986	22986			16699	protein-coding gene	gene with protein product		606285			NA	11499680	Standard	NM_014978	NM_014978	NA	Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.3369C>T	10.37:g.107016608C>T		NA	Q5VXF9|Q9NQJ2	37	CCDS7558.1																																																																																			SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050221.1		+	ENST00000369701.3	Silent	SNP	10 : 107016608 - 107016608 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	239	39
ABCA9	10350	broad.mit.edu	37	17	67004260	67004260	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67004260C>T	ENST00000340001.4	-	24	3475	c.3264G>A	c.(3262-3264)atG>atA	p.M1088I	ABCA9_ENST00000453985.2_Missense_Mutation_p.M1088I|ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000370732.2_Missense_Mutation_p.M1088I	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1088					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AAATATAATCCATTATTTGCA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	75	71			NA	NA	17		NA											NA				67004260		2203	4299	6502	SO:0001583	missense			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258	10350	10350		ATP binding cassette transporters / subfamily A	39	protein-coding gene	gene with protein product		612507			NA		Standard	NM_172386	XM_005256934	NA	Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.3264G>A	17.37:g.67004260C>T	ENSP00000342216:p.Met1088Ile	NA	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	37	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	c	0.003	-2.516910	0.00151	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.84730	-1.89;-1.89	4.8	-0.6	0.11642	.	0.807251	0.10785	N	0.634426	T	0.67988	0.2952	L	0.28504	0.86	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.11329	0.004;0.006	T	0.50242	-0.8851	10	0.07813	T	0.8	.	0.9723	0.01418	0.3544:0.323:0.1349:0.1877	.	1088;1088	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	I	1088;1071;1088;1083	ENSP00000342216:M1088I;ENSP00000359767:M1088I	ENSP00000342216:M1088I	M	-	3	0	ABCA9	64515855	0.001000	0.12720	0.452000	0.26994	0.001000	0.01503	0.311000	0.19380	0.158000	0.19367	-0.309000	0.09137	ATG	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277072.2		-	ENST00000340001.4	Missense_Mutation	SNP	17 : 67004260 - 67004260 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	543	38
MAMDC2	256691	broad.mit.edu	37	9	72833493	72833493	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72833493G>T	ENST00000377182.4	+	12	2509	c.1892G>T	c.(1891-1893)aGc>aTc	p.S631I	SMC5-AS1_ENST00000594708.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	631	MAM 4.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						ATTGAATACAGCTGTGAGAGG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	60	60			NA	NA	9		NA											NA				72833493		2203	4300	6503	SO:0001583	missense			BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072	256691	256691			23673	protein-coding gene	gene with protein product		612879			NA		Standard	NM_153267	NM_153267	NA	Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.1892G>T	9.37:g.72833493G>T	ENSP00000366387:p.Ser631Ile	NA	Q5VW47|Q8WX43|Q96BM4	37	CCDS6631.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361880	0.61403	.	.	ENSG00000165072	ENST00000377182	T	0.02446	4.29	5.32	3.45	0.39498	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.503086	0.25238	N	0.032109	T	0.06096	0.0158	M	0.69185	2.1	0.34456	D	0.701231	P	0.48294	0.908	P	0.49953	0.627	T	0.27157	-1.0082	10	0.36615	T	0.2	-16.4135	5.7393	0.18083	0.1351:0.3581:0.5068:0.0	.	631	Q7Z304	MAMC2_HUMAN	I	631	ENSP00000366387:S631I	ENSP00000366387:S631I	S	+	2	0	MAMDC2	72023313	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	3.943000	0.56621	1.387000	0.46486	0.580000	0.79431	AGC	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052600.1		+	ENST00000377182.4	Missense_Mutation	SNP	9 : 72833493 - 72833493 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	230	43
EVC2	132884	broad.mit.edu	37	4	5620298	5620298	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5620298G>A	ENST00000310917.2	-	15	3104	c.2373C>T	c.(2371-2373)atC>atT	p.I791I	EVC2_ENST00000344938.1_Silent_p.I871I|EVC2_ENST00000344408.5_Silent_p.I871I	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	871						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CTCGGGCCCGGATCTTGGGGA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	41	41			NA	NA	4		NA											NA				5620298		2203	4300	6503	SO:0001819	synonymous_variant			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040	132884	132884			19747	protein-coding gene	gene with protein product		607261			NA	12136126, 12571802	Standard	NM_147127	NM_147127	NA	Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000310917.2:c.2373C>T	4.37:g.5620298G>A		NA	Q86YT3|Q86YT4|Q8NG49	37	CCDS54718.1																																																																																			EVC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000246819.3		-	ENST00000310917.2	Silent	SNP	4 : 5620298 - 5620298 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	199	35
PRTG	283659	broad.mit.edu	37	15	55965763	55965763	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55965763C>T	ENST00000389286.4	-	10	1705	c.1658G>A	c.(1657-1659)cGc>cAc	p.R553H		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	553	Fibronectin type-III 2.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GAAAGACAAGCGATACAGCAC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	112	110			NA	NA	15		NA											NA				55965763		1914	4113	6027	SO:0001583	missense			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450	283659	283659		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	26373	protein-coding gene	gene with protein product	immunoglobulin superfamily, DCC subclass, member 5	613261	protogenin homolog (Gallus gallus)		NA		Standard	NM_173814	NM_173814	NA	Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1658G>A	15.37:g.55965763C>T	ENSP00000373937:p.Arg553His	NA	Q8N7D8	37	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872775	0.72180	.	.	ENSG00000166450	ENST00000389286	T	0.58940	0.3	4.92	4.92	0.64577	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.058015	0.64402	D	0.000001	T	0.57961	0.2089	M	0.67625	2.065	0.80722	D	1	P	0.35328	0.495	B	0.33254	0.16	T	0.64309	-0.6438	10	0.59425	D	0.04	-12.1641	17.4907	0.87702	0.0:1.0:0.0:0.0	.	553	Q2VWP7	PRTG_HUMAN	H	553	ENSP00000373937:R553H	ENSP00000373937:R553H	R	-	2	0	PRTG	53753055	1.000000	0.71417	0.654000	0.29608	0.810000	0.45777	5.601000	0.67606	2.428000	0.82296	0.655000	0.94253	CGC	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419357.1		-	ENST00000389286.4	Missense_Mutation	SNP	15 : 55965763 - 55965763 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	699	110
PSD2	84249	broad.mit.edu	37	5	139189208	139189208	+	Silent	SNP	G	G	A	rs138202504		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139189208G>A	ENST00000274710.3	+	2	388	c.183G>A	c.(181-183)acG>acA	p.T61T		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	61					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAACCCACGAAGGACCCAG	0.632		NA											G	0	0	NA	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0	0	EXOME	NA	NA	6e-04	SNP								NA				0								G		1,4405	2.1+/-5.4	0,1,2202	74	77	76		183	-4.1	0	5	dbSNP_134	76	0,8600		0,0,4300	no	coding-synonymous	PSD2	NM_032289.2		0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077		61/772	139189208	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005	84249	84249		Pleckstrin homology (PH) domain containing	19092	protein-coding gene	gene with protein product					NA		Standard	NM_032289	NM_032289	NA	Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.183G>A	5.37:g.139189208G>A		NA	D3DQD3|Q8N3J8	37	CCDS4216.1																																																																																			PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251339.1		+	ENST00000274710.3	Silent	SNP	5 : 139189208 - 139189208 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	332	56
GRM3	2913	broad.mit.edu	37	7	86469049	86469049	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86469049C>T	ENST00000361669.2	+	4	3318	c.2219C>T	c.(2218-2220)tCt>tTt	p.S740F	GRM3_ENST00000546348.1_Missense_Mutation_p.S332F|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.S612F|GRM3_ENST00000394720.2_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	740					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ATGTTGATCTCTCTTACCTAC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(52;969 1098 3139 52280)							NA				0													127	109	115			NA	NA	7		NA											NA				86469049		2203	4300	6503	SO:0001583	missense				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822	NA	2913		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4595	protein-coding gene	gene with protein product		601115			NA	8824806	Standard		NM_000840	NA	Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2219C>T	7.37:g.86469049C>T	ENSP00000355316:p.Ser740Phe	NA	Q75MV4|Q75N17|Q86YG6|Q8TBH9	37	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964456	0.74131	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.88354	-2.37;-2.37;-2.37	5.54	5.54	0.83059	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95500	0.8538	M	0.89287	3.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95901	0.8915	10	0.72032	D	0.01	.	18.4662	0.90755	0.0:1.0:0.0:0.0	.	332;612;740	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	F	740;332;612	ENSP00000355316:S740F;ENSP00000444064:S332F;ENSP00000441407:S612F	ENSP00000355316:S740F	S	+	2	0	GRM3	86306985	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.603000	0.88011	0.563000	0.77884	TCT	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253362.2		+	ENST00000361669.2	Missense_Mutation	SNP	7 : 86469049 - 86469049 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	385	32
AP3D1	8943	broad.mit.edu	37	19	2116654	2116654	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2116654G>A	ENST00000355272.6	-	17	2157	c.1951C>T	c.(1951-1953)Cgg>Tgg	p.R651W	AP3D1_ENST00000356926.4_Missense_Mutation_p.R560W|AP3D1_ENST00000345016.5_Missense_Mutation_p.R651W|AP3D1_ENST00000350812.6_Missense_Mutation_p.R482W	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	651					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGGGACGCCGCTGCTCCTCC	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	29	28			NA	NA	19		NA											NA				2116654		2111	4230	6341	SO:0001583	missense			U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000	8943	8943			568	protein-coding gene	gene with protein product		607246			NA	9151686, 9303295	Standard		NM_003938	NA	Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000355272.6:c.1951C>T	19.37:g.2116654G>A	ENSP00000347416:p.Arg651Trp	NA	O00202|O75262|Q59HF5|Q96G11|Q9H3C6	37	CCDS58638.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319203	0.41096	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.64618	2.13;-0.11;1.49;-0.11	5.16	1.7	0.24286	Armadillo-like helical (1);	0.156867	0.56097	D	0.000035	T	0.71048	0.3294	M	0.65975	2.015	0.24027	N	0.996123	D;B;D	0.76494	0.999;0.173;0.998	P;B;D	0.65987	0.854;0.111;0.94	T	0.61739	-0.7001	10	0.59425	D	0.04	-33.7094	8.0557	0.30604	0.0973:0.0:0.3076:0.595	.	651;651;560	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	W	560;651;651;651;482	ENSP00000349398:R560W;ENSP00000344055:R651W;ENSP00000347416:R651W;ENSP00000342321:R482W	ENSP00000341579:R651W	R	-	1	2	AP3D1	2067654	0.920000	0.31207	0.061000	0.19648	0.152000	0.21847	1.782000	0.38654	0.008000	0.14787	0.561000	0.74099	CGG	AP3D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450910.2		-	ENST00000355272.6	Missense_Mutation	SNP	19 : 2116654 - 2116654 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	88	19
ZNF441	126068	broad.mit.edu	37	19	11892674	11892674	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11892674G>A	ENST00000357901.4	+	4	2137	c.2035G>A	c.(2035-2037)Gca>Aca	p.A679T	ZNF441_ENST00000454339.2_Missense_Mutation_p.A612T	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	679					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATGTGGGGAAGCATTTCATTG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	75	73			NA	NA	19		NA											NA				11892674		2203	4300	6503	SO:0001583	missense			AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044	126068	126068		Zinc fingers, C2H2-type, -	20875	protein-coding gene	gene with protein product					NA		Standard	NM_152355	NM_152355	NA	Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.2035G>A	19.37:g.11892674G>A	ENSP00000350576:p.Ala679Thr	NA		37	CCDS12266.2	.	.	.	.	.	.	.	.	.	.	g	0.091	-1.167675	0.01660	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.60797	0.16;0.16	1.04	-1.6	0.08426	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	.	.	.	.	T	0.34658	0.0905	N	0.20807	0.61	0.09310	N	1	B	0.21452	0.056	B	0.20384	0.029	T	0.11916	-1.0568	9	0.33141	T	0.24	.	3.5164	0.07726	0.2866:0.0:0.4456:0.2678	.	679	Q8N8Z8	ZN441_HUMAN	T	635;679;612	ENSP00000350576:A679T;ENSP00000403738:A612T	ENSP00000350576:A679T	A	+	1	0	ZNF441	11753674	0.000000	0.05858	0.001000	0.08648	0.267000	0.26476	-1.245000	0.02899	-1.183000	0.02723	-1.842000	0.00583	GCA	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335273.3		+	ENST00000357901.4	Missense_Mutation	SNP	19 : 11892674 - 11892674 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	196	46
SPAG8	26206	broad.mit.edu	37	9	35811564	35811564	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35811564C>T	ENST00000340291.2	-	2	603	c.479G>A	c.(478-480)gGc>gAc	p.G160D	SPAG8_ENST00000484764.1_Missense_Mutation_p.G158D|SPAG8_ENST00000396638.2_Missense_Mutation_p.G160D	NM_172312.1	NP_758516.1	Q99932	SPAG8_HUMAN	sperm associated antigen 8	160	Gly-rich.					acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			aggaccagagccagagccaga	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	38	42			NA	NA	9		NA											NA				35811564		2202	4300	6502	SO:0001583	missense			U12978	CCDS6592.1, CCDS43798.1	9p13.3	2014-02-03			ENSG00000137098	ENSG00000137098	26206	26206			14105	protein-coding gene	gene with protein product		605731			NA	10500252, 8788182	Standard	NM_012436	NM_172312	NA	Approved	hSMP-1, HSD-1, BS-84, SPAG3, CT142, CILD28	uc003zye.3	Q99932	OTTHUMG00000019875	ENST00000340291.2:c.479G>A	9.37:g.35811564C>T	ENSP00000340982:p.Gly160Asp	NA	Q12937|Q5TCV8|Q8WWB4	37	CCDS6592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.36|13.36	2.212648|2.212648	0.39102|0.39102	.|.	.|.	ENSG00000137098|ENSG00000137098	ENST00000497810|ENST00000340291;ENST00000484764;ENST00000396638	.|T;T;T	.|0.54279	.|0.58;0.58;0.58	4.41|4.41	-0.951|-0.951	0.10369|0.10369	.|.	.|0.504809	.|0.17191	.|N	.|0.183507	T|T	0.20820|0.20820	0.0501|0.0501	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B	.|0.13594	.|0.008;0.008	.|B;B	.|0.17433	.|0.018;0.018	T|T	0.08973|0.08973	-1.0696|-1.0696	5|10	.|0.41790	.|T	.|0.15	0.346|0.346	0.7469|0.7469	0.00984|0.00984	0.1673:0.3683:0.1629:0.3014|0.1673:0.3683:0.1629:0.3014	.|.	.|160;160	.|E9PDV6;Q99932-2	.|.;.	T|D	158|160;158;160	.|ENSP00000340982:G160D;ENSP00000418072:G158D;ENSP00000379878:G160D	.|ENSP00000340982:G160D	A|G	-|-	1|2	0|0	SPAG8|SPAG8	35801564|35801564	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.108000|0.108000	0.19459|0.19459	-0.181000|-0.181000	0.09740|0.09740	-0.156000|-0.156000	0.11079|0.11079	-0.150000|-0.150000	0.13652|0.13652	GCT|GGC	SPAG8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052360.2		-	ENST00000340291.2	Missense_Mutation	SNP	9 : 35811564 - 35811564 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	183	36
COG2	22796	broad.mit.edu	37	1	230805179	230805179	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230805179C>T	ENST00000534989.1	+	7	830	c.495C>T	c.(493-495)gtC>gtT	p.V165V	COG2_ENST00000535166.1_Silent_p.V108V|COG2_ENST00000366669.4_Silent_p.V224V|COG2_ENST00000366668.3_Silent_p.V224V			Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	224					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CGTCTGACGTCGATATAATAC	0.493		NA											C	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	9e-04	SNP								NA				0													120	105	110			NA	NA	1		NA											NA				230805179		2203	4300	6503	SO:0001819	synonymous_variant			Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775	22796	22796		Components of oligomeric golgi complex	6546	protein-coding gene	gene with protein product		606974	low density lipoprotein receptor defect C complementing	LDLC	NA	7962052	Standard	NM_007357	NM_007357	NA	Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000534989.1:c.495C>T	1.37:g.230805179C>T		NA		37																																																																																				COG2-010	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000472446.1		+	ENST00000534989.1	Silent	SNP	1 : 230805179 - 230805179 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	537	127
SLC41A3	54946	broad.mit.edu	37	3	125725380	125725380	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125725380G>T	ENST00000315891.6	-	12	1632	c.1394C>A	c.(1393-1395)gCt>gAt	p.A465D	SLC41A3_ENST00000383598.2_3'UTR|SLC41A3_ENST00000346785.5_Missense_Mutation_p.A429D|SLC41A3_ENST00000360370.4_3'UTR	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	465						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		TCTTGGCACAGCAGCAGTGTG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	55	56			NA	NA	3		NA											NA				125725380		2203	4300	6503	SO:0001583	missense				CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544	54946	54946		Solute carriers	31046	protein-coding gene	gene with protein product		610803			NA		Standard	NM_017836	NM_001164475	NA	Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.1394C>A	3.37:g.125725380G>T	ENSP00000326070:p.Ala465Asp	NA	A6ND60|B3KSD9|C9JE96|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	37	CCDS33843.1	.	.	.	.	.	.	.	.	.	.	G	8.404	0.842629	0.16963	.	.	ENSG00000114544	ENST00000346785;ENST00000315891	T;T	0.34667	1.35;1.35	3.69	-6.75	0.01738	.	.	.	.	.	T	0.13072	0.0317	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.17653	-1.0362	9	0.49607	T	0.09	-16.7887	0.8389	0.01145	0.1802:0.2234:0.3116:0.2848	.	429;465	Q96GZ6-3;Q96GZ6	.;S41A3_HUMAN	D	429;465	ENSP00000264471:A429D;ENSP00000326070:A465D	ENSP00000326070:A465D	A	-	2	0	SLC41A3	127208070	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.509000	0.06336	-1.735000	0.01353	0.591000	0.81541	GCT	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370886.1		-	ENST00000315891.6	Missense_Mutation	SNP	3 : 125725380 - 125725380 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	224	38
DDB1	1642	broad.mit.edu	37	11	61080983	61080983	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61080983C>T	ENST00000301764.7	-	16	2454	c.2057G>A	c.(2056-2058)gGc>gAc	p.G686D	DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	686	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GTCAGGATAGCCATCTGAATT	0.438		NA						Nucleotide excision repair (NER)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	131	133			NA	NA	11		NA											NA				61080983		2203	4299	6502	SO:0001583	missense			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986	1642	1642			2717	protein-coding gene	gene with protein product		600045	damage-specific DNA binding protein 1 (127kD)		NA	8530102, 10574459	Standard	NM_001923	NM_001923	NA	Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.2057G>A	11.37:g.61080983C>T	ENSP00000301764:p.Gly686Asp	NA	A6NG77|B2R648|O15176|Q13289|Q58F96	37	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181655	0.78677	.	.	ENSG00000167986	ENST00000301764;ENST00000535147	T;T	0.28454	1.61;1.61	5.63	5.63	0.86233	.	0.049844	0.85682	D	0.000000	T	0.30230	0.0758	L	0.50333	1.59	0.80722	D	1	P	0.41748	0.761	B	0.36885	0.235	T	0.03993	-1.0986	10	0.21014	T	0.42	-24.9162	19.7096	0.96089	0.0:1.0:0.0:0.0	.	686	Q16531	DDB1_HUMAN	D	686;153	ENSP00000301764:G686D;ENSP00000444650:G153D	ENSP00000301764:G686D	G	-	2	0	DDB1	60837559	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.737000	0.84957	2.652000	0.90054	0.655000	0.94253	GGC	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398816.1		-	ENST00000301764.7	Missense_Mutation	SNP	11 : 61080983 - 61080983 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	59
MSC	9242	broad.mit.edu	37	8	72755888	72755888	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72755888C>T	ENST00000325509.4	-	1	815	c.526G>A	c.(526-528)Gtg>Atg	p.V176M	RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000524152.1_5'UTR|RP11-383H13.1_ENST00000537896.1_Silent_p.H84H	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	176					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			ACCAGGTTCACTGGGTGCACG	0.657		NA									OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	35	34			NA	NA	8		NA											NA				72755888		2188	4292	6480	SO:0001583	missense				CCDS43746.1	8q13.3	2013-06-07	2010-04-28		ENSG00000178860	ENSG00000178860	9242	9242		Basic helix-loop-helix proteins	7321	protein-coding gene	gene with protein product	activated B-cell factor-1	603628	musculin (activated B-cell factor-1)		NA	9584154, 10198176	Standard	NM_005098	NM_005098	NA	Approved	ABF-1, bHLHa22	uc003xyx.1	O60682	OTTHUMG00000164489	ENST00000325509.4:c.526G>A	8.37:g.72755888C>T	ENSP00000321445:p.Val176Met	1140	O75946|Q53XZ2|Q9BRE7	37	CCDS43746.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.997270	0.93167	.	.	ENSG00000178860	ENST00000325509	D	0.88046	-2.33	5.07	5.07	0.68467	Helix-loop-helix DNA-binding (1);	0.060231	0.64402	D	0.000003	D	0.91855	0.7422	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.92441	0.5962	10	0.62326	D	0.03	.	18.4569	0.90724	0.0:1.0:0.0:0.0	.	176	O60682	MUSC_HUMAN	M	176	ENSP00000321445:V176M	ENSP00000321445:V176M	V	-	1	0	MSC	72918442	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.636000	0.83301	2.365000	0.80145	0.555000	0.69702	GTG	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378974.1		-	ENST00000325509.4	Missense_Mutation	SNP	8 : 72755888 - 72755888 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	378	62
WDR3	10885	broad.mit.edu	37	1	118495213	118495213	+	Silent	SNP	G	G	A	rs139563237		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118495213G>A	ENST00000349139.5	+	19	2126	c.2079G>A	c.(2077-2079)tcG>tcA	p.S693S		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	NA						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TTGTATCATCGTCCCATGACA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4405	2.1+/-5.4	0,1,2202	103	103	103		2079	-11.1	0.4	1	dbSNP_134	103	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	WDR3	NM_006784.2		0,3,6500	AA,AG,GG	NA	0.0233,0.0227,0.0231		693/944	118495213	3,13003	2203	4300	6503	SO:0001819	synonymous_variant			AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183	10885	10885		WD repeat domain containing	12755	protein-coding gene	gene with protein product		604737			NA	10395803	Standard	NM_006784	NM_006784	NA	Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.2079G>A	1.37:g.118495213G>A		NA		37	CCDS898.1																																																																																			WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033720.2		+	ENST00000349139.5	Silent	SNP	1 : 118495213 - 118495213 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	573	126
COL1A2	1278	broad.mit.edu	37	7	94038695	94038695	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94038695T>C	ENST00000297268.6	+	17	1325	c.854T>C	c.(853-855)gTg>gCg	p.V285A		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	285					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CGTGGTGAAGTGGGTCTTCCA	0.493		NA								HNSCC(75;0.22)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	98	93			NA	NA	7		NA											NA				94038695		2203	4300	6503	SO:0001583	missense			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692	1278	1278		Collagens	2198	protein-coding gene	gene with protein product	alpha 2(I)-collagen, alpha-2 collagen type I, type I procollagen, collagen I, alpha-2 polypeptide, collagen of skin, tendon and bone, alpha-2 chain	120160	osteogenesis imperfecta type IV	OI4	NA	3857213, 2897363	Standard	NM_000089	NM_000089	NA	Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.854T>C	7.37:g.94038695T>C	ENSP00000297268:p.Val285Ala	NA	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	37	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	T	13.59	2.282364	0.40394	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.93247	-3.19	5.73	1.87	0.25490	.	0.381500	0.28130	N	0.016489	T	0.79393	0.4438	N	0.03050	-0.425	0.22903	N	0.998586	B	0.02656	0.0	B	0.01281	0.0	T	0.67662	-0.5613	10	0.30854	T	0.27	.	5.0595	0.14550	0.1218:0.2643:0.0:0.6139	.	285	P08123	CO1A2_HUMAN	A	285;286	ENSP00000297268:V285A	ENSP00000297268:V285A	V	+	2	0	COL1A2	93876631	0.818000	0.29161	0.992000	0.48379	0.990000	0.78478	1.716000	0.37981	0.132000	0.18615	0.533000	0.62120	GTG	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000309045.2		+	ENST00000297268.6	Missense_Mutation	SNP	7 : 94038695 - 94038695 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	894	181
CEP120	153241	broad.mit.edu	37	5	122720769	122720769	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122720769C>T	ENST00000306467.5	-	11	1943	c.1639G>A	c.(1639-1641)Gga>Aga	p.G547R	CEP120_ENST00000306481.6_Missense_Mutation_p.G521R|CEP120_ENST00000328236.5_Missense_Mutation_p.G547R			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	547						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						CTCGCAATTCCCAGAAGTAAA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	118	118			NA	NA	5		NA											NA				122720769		2203	4300	6503	SO:0001583	missense			AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944	153241	153241			26690	protein-coding gene	gene with protein product		613446	coiled-coil domain containing 100	CCDC100	NA	17920017	Standard	NM_153223	NM_153223	NA	Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.1639G>A	5.37:g.122720769C>T	ENSP00000303058:p.Gly547Arg	NA	Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	37	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047955	0.93740	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	5.62	5.62	0.85841	.	0.057822	0.64402	D	0.000002	D	0.88566	0.6471	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89155	0.3526	10	0.87932	D	0	-24.5401	19.6568	0.95845	0.0:1.0:0.0:0.0	.	547	Q8N960	CE120_HUMAN	R	547;547;521;521	ENSP00000303058:G547R;ENSP00000327504:G547R;ENSP00000307419:G521R;ENSP00000421620:G521R	ENSP00000303058:G547R	G	-	1	0	CEP120	122748668	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.476000	0.81055	2.656000	0.90262	0.650000	0.86243	GGA	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250899.2		-	ENST00000306467.5	Missense_Mutation	SNP	5 : 122720769 - 122720769 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	337	69
PLAA	9373	broad.mit.edu	37	9	26905793	26905793	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:26905793G>A	ENST00000397292.3	-	14	2521	c.2104C>T	c.(2104-2106)Ctg>Ttg	p.L702L		NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	702	PUL.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		AATGTAGCCAGAGCAATGTGA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(175;2670 2735 14091 35526)							NA				0													125	115	118			NA	NA	9		NA											NA				26905793		2203	4300	6503	SO:0001819	synonymous_variant			AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055	9373	9373		WD repeat domain containing	9043	protein-coding gene	gene with protein product	DOA1 homolog (S. cerevisiae)	603873			NA	9931468, 10644453	Standard	NM_001031689	NM_001031689	NA	Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.2104C>T	9.37:g.26905793G>A		NA	Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	37	CCDS35000.1																																																																																			PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051958.2		-	ENST00000397292.3	Silent	SNP	9 : 26905793 - 26905793 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	277	55
NOTCH3	4854	broad.mit.edu	37	19	15296201	15296201	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15296201C>A	ENST00000263388.2	-	14	2238	c.2163G>T	c.(2161-2163)gaG>gaT	p.E721D		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	721	EGF-like 18.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCCAGCCAGGCTCACACACAC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	15	16			NA	NA	19		NA											NA				15296201		2178	4252	6430	SO:0001583	missense			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181	4854	4854		Ankyrin repeat domain containing	7883	protein-coding gene	gene with protein product		600276	Notch (Drosophila) homolog 3, Notch homolog 3 (Drosophila)	CADASIL	NA	7835890	Standard	NM_000435	NM_000435	NA	Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.2163G>T	19.37:g.15296201C>A	ENSP00000263388:p.Glu721Asp	NA	Q9UEB3|Q9UPL3|Q9Y6L8	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	7.088	0.571512	0.13623	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	T	0.58940	0.3	5.07	1.76	0.24704	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.256337	0.20577	N	0.089609	T	0.35158	0.0922	L	0.28504	0.86	0.43203	D	0.995058	B;B	0.10296	0.003;0.001	B;B	0.19666	0.016;0.026	T	0.08722	-1.0708	10	0.07175	T	0.84	.	4.3809	0.11293	0.1624:0.59:0.0:0.2476	.	724;721	Q59FL3;Q9UM47	.;NOTC3_HUMAN	D	721;723	ENSP00000263388:E721D	ENSP00000263388:E721D	E	-	3	2	NOTCH3	15157201	0.087000	0.21565	1.000000	0.80357	0.986000	0.74619	-0.638000	0.05452	0.543000	0.28864	0.650000	0.86243	GAG	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465714.1		-	ENST00000263388.2	Missense_Mutation	SNP	19 : 15296201 - 15296201 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	165	17
AFF3	3899	broad.mit.edu	37	2	100266103	100266103	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100266103C>T	ENST00000409236.2	-	11	1281	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	AFF3_ENST00000409579.1_Missense_Mutation_p.R415H|AFF3_ENST00000317233.4_Missense_Mutation_p.R390H|AFF3_ENST00000356421.2_Missense_Mutation_p.R415H			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	NA					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AGAGAGAGCGCGGAGAGCCGT	0.363		NA											C	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	4e-04	SNP								NA				0													86	100	95			NA	NA	2		NA											NA				100266103		2203	4300	6503	SO:0001583	missense			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218	3899	3899			6473	protein-coding gene	gene with protein product		601464	lymphoid nuclear protein related to AF4	LAF4	NA	8662235, 8555498	Standard	NM_002285	XM_005263945	NA	Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1169G>A	2.37:g.100266103C>T	ENSP00000387207:p.Arg390His	NA	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	37	CCDS42723.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.31	2.198071	0.38806	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49	6.07	3.05	0.35203	.	0.160493	0.29594	N	0.011704	T	0.53916	0.1826	L	0.36672	1.1	0.31696	N	0.641262	B;B;B	0.19583	0.037;0.004;0.003	B;B;B	0.15052	0.012;0.005;0.002	T	0.51482	-0.8700	10	0.41790	T	0.15	.	3.4607	0.07532	0.2012:0.5685:0.0:0.2302	.	543;390;415	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	H	390;415;415;390;390;543;415	ENSP00000317421:R390H;ENSP00000348793:R415H;ENSP00000386834:R415H;ENSP00000387207:R390H	ENSP00000317421:R390H	R	-	2	0	AFF3	99632535	0.918000	0.31147	0.991000	0.47740	0.900000	0.52787	1.550000	0.36223	0.319000	0.23209	0.650000	0.86243	CGC	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328982.3		-	ENST00000409236.2	Missense_Mutation	SNP	2 : 100266103 - 100266103 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	642	109
HTR6	3362	broad.mit.edu	37	1	19992447	19992447	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19992447G>A	ENST00000289753.1	+	1	668	c.201G>A	c.(199-201)tcG>tcA	p.S67S		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	67					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	TCCTGGTGTCGCTCTTCACGT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(168;1879 2619 6848 21062)							NA				0													29	30	29			NA	NA	1		NA											NA				19992447		2203	4297	6500	SO:0001819	synonymous_variant			L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748	3362	3362		5-HT (serotonin) receptors, GPCR / Class A : 5-HT (serotonin) receptors, GPCR only	5301	protein-coding gene	gene with protein product		601109	5-hydroxytryptamine (serotonin) receptor 6		NA	8522988	Standard	NM_000871	NM_000871	NA	Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.201G>A	1.37:g.19992447G>A		NA	Q13640|Q5TGZ1	37	CCDS197.1																																																																																			HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007704.1		+	ENST00000289753.1	Silent	SNP	1 : 19992447 - 19992447 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	238	26
FYCO1	79443	broad.mit.edu	37	3	46008354	46008354	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46008354T>G	ENST00000296137.2	-	8	2677	c.2472A>C	c.(2470-2472)aaA>aaC	p.K824N	FYCO1_ENST00000535325.1_Missense_Mutation_p.K824N	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	824					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GCACAAGGGTTTTGTGCTCCC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	74	75			NA	NA	3		NA											NA				46008354		2203	4300	6503	SO:0001583	missense			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820	79443	79443		Zinc fingers, FYVE domain containing	14673	protein-coding gene	gene with protein product		607182			NA	11896456	Standard	NM_024513	NM_024513	NA	Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.2472A>C	3.37:g.46008354T>G	ENSP00000296137:p.Lys824Asn	NA	Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	37	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	T	10.38	1.332887	0.24167	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.23552	1.9;1.91	5.66	1.39	0.22231	.	0.532153	0.21892	N	0.067569	T	0.21761	0.0524	L	0.54323	1.7	0.09310	N	1	P;P	0.51653	0.947;0.736	B;B	0.40444	0.329;0.205	T	0.14476	-1.0471	10	0.31617	T	0.26	-25.2254	10.9744	0.47456	0.0:0.6381:0.0:0.3619	.	824;824	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	N	824	ENSP00000296137:K824N;ENSP00000441178:K824N	ENSP00000296137:K824N	K	-	3	2	FYCO1	45983358	0.015000	0.18098	0.196000	0.23383	0.560000	0.35617	0.498000	0.22530	0.360000	0.24265	-0.132000	0.14878	AAA	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257320.2		-	ENST00000296137.2	Missense_Mutation	SNP	3 : 46008354 - 46008354 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	391	33
ACOT8	10005	broad.mit.edu	37	20	44472193	44472193	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44472193G>T	ENST00000217455.4	-	5	904	c.814C>A	c.(814-816)Ctc>Atc	p.L272I		NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	272					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				CATTCATAGAGCATCCAGTGG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	39	42			NA	NA	20		NA											NA				44472193		2203	4300	6503	SO:0001583	missense			AF014404	CCDS13378.1	20q13.12	2012-05-16	2005-09-19	2005-09-19	ENSG00000101473	ENSG00000101473	10005	10005	3.1.2.27	Acyl CoA thioesterases	15919	protein-coding gene	gene with protein product	choloyl-CoA hydrolase	608123	peroxisomal acyl-CoA thioesterase, peroxisomal acyl-CoA thioesterase 1	PTE1	NA	10092594, 9153233, 16103133, 16940157	Standard	NM_183386	NM_005469	NA	Approved	hACTE-III, hTE, PTE-2	uc002xqa.2	O14734	OTTHUMG00000033045	ENST00000217455.4:c.814C>A	20.37:g.44472193G>T	ENSP00000217455:p.Leu272Ile	NA	O15261|Q17RX4	37	CCDS13378.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795666	0.90453	.	.	ENSG00000101473	ENST00000217455	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.90789	0.7108	H	0.98446	4.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.94263	0.7504	9	0.87932	D	0	.	18.5723	0.91140	0.0:0.0:1.0:0.0	.	152;272	E9PRD4;O14734	.;ACOT8_HUMAN	I	272	.	ENSP00000217455:L272I	L	-	1	0	ACOT8	43905600	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	7.307000	0.78920	2.620000	0.88729	0.655000	0.94253	CTC	ACOT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080338.2		-	ENST00000217455.4	Missense_Mutation	SNP	20 : 44472193 - 44472193 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	105	13
CLHC1	130162	broad.mit.edu	37	2	55407780	55407780	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55407780G>A	ENST00000401408.1	-	11	1595	c.1250C>T	c.(1249-1251)gCc>gTc	p.A417V	CLHC1_ENST00000406437.2_5'UTR|CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000406076.1_Missense_Mutation_p.A295V|CLHC1_ENST00000407122.1_Missense_Mutation_p.A417V	NM_152385.2	NP_689598.2			clathrin heavy chain linker domain containing 1	NA											NA						CAGGCACTTGGCCTTGTTATA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	109	112			NA	NA	2		NA											NA				55407780		2203	4300	6503	SO:0001583	missense				CCDS33201.1, CCDS46287.1	2p16.1	2012-08-03	2012-08-03	2012-08-03	ENSG00000162994	ENSG00000162994	130162	130162			26453	protein-coding gene	gene with protein product			chromosome 2 open reading frame 63	C2orf63	NA		Standard	NM_152385	NM_152385	NA	Approved	FLJ31438	uc002ryi.2	Q8NHS4	OTTHUMG00000151918	ENST00000401408.1:c.1250C>T	2.37:g.55407780G>A	ENSP00000384869:p.Ala417Val	NA		37	CCDS33201.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802390	0.70682	.	.	ENSG00000162994	ENST00000407122;ENST00000401408;ENST00000406076	T;T;T	0.20598	2.07;2.07;2.06	5.98	5.98	0.97165	Clathrin, heavy chain, linker (1);Armadillo-type fold (1);	0.657771	0.14568	N	0.311608	T	0.24084	0.0583	L	0.51422	1.61	0.80722	D	1	P	0.39665	0.682	B	0.35550	0.205	T	0.03112	-1.1071	10	0.59425	D	0.04	0.4097	17.3688	0.87370	0.0:0.0:1.0:0.0	.	417	Q8NHS4	CB063_HUMAN	V	417;417;295	ENSP00000385778:A417V;ENSP00000384869:A417V;ENSP00000385512:A295V	ENSP00000384869:A417V	A	-	2	0	C2orf63	55261284	0.997000	0.39634	0.969000	0.41365	0.929000	0.56500	2.967000	0.49216	2.838000	0.97847	0.591000	0.81541	GCC	CLHC1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324412.4		-	ENST00000401408.1	Missense_Mutation	SNP	2 : 55407780 - 55407780 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	79
USP8	9101	broad.mit.edu	37	15	50782713	50782713	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50782713G>A	ENST00000425032.3	+	11	2100	c.1907G>A	c.(1906-1908)cGg>cAg	p.R636Q	USP8_ENST00000396444.3_Missense_Mutation_p.R742Q|USP8_ENST00000433963.1_Missense_Mutation_p.R742Q|USP8_ENST00000307179.4_Missense_Mutation_p.R742Q	NM_001283049.1	NP_001269978.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	742					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ACAGTTAATCGGGAAAACAAG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	96	96			NA	NA	15		NA											NA				50782713		2196	4294	6490	SO:0001583	missense			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592	9101	9101		Ubiquitin-specific peptidases	12631	protein-coding gene	gene with protein product		603158	ubiquitin specific protease 8		NA	12838346, 9582025, 24482476	Standard	NM_005154	NM_005154	NA	Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000425032.3:c.1907G>A	15.37:g.50782713G>A	ENSP00000412682:p.Arg636Gln	NA	Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	37		.	.	.	.	.	.	.	.	.	.	G	22.0	4.236592	0.79800	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.19669	2.13;2.13;2.13;2.15	5.6	5.6	0.85130	.	0.650366	0.16020	N	0.233361	T	0.33177	0.0854	L	0.32530	0.975	0.80722	D	1	D;P	0.60575	0.988;0.947	P;P	0.55260	0.752;0.772	T	0.02751	-1.1115	10	0.59425	D	0.04	-14.7141	19.9733	0.97292	0.0:0.0:1.0:0.0	.	636;742	B4DKA8;P40818	.;UBP8_HUMAN	Q	742;742;742;636	ENSP00000379721:R742Q;ENSP00000405537:R742Q;ENSP00000302239:R742Q;ENSP00000412682:R636Q	ENSP00000302239:R742Q	R	+	2	0	USP8	48570005	1.000000	0.71417	1.000000	0.80357	0.131000	0.20780	9.169000	0.94788	2.790000	0.95986	0.650000	0.86243	CGG	USP8-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000418317.1		+	ENST00000425032.3	Missense_Mutation	SNP	15 : 50782713 - 50782713 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	392	40
HNRNPF	3185	broad.mit.edu	37	10	43882434	43882434	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43882434G>A	ENST00000544000.1	-	4	1306	c.899C>T	c.(898-900)gCg>gTg	p.A300V	HNRNPF_ENST00000356053.3_Missense_Mutation_p.A300V|HNRNPF_ENST00000337970.3_Missense_Mutation_p.A300V|HNRNPF_ENST00000357065.4_Missense_Mutation_p.A300V|HNRNPF_ENST00000443950.2_Missense_Mutation_p.A300V	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	300	RRM 3.				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						GTTCTCGGTCGCTTTGTACGG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	51	54			NA	NA	10		NA											NA				43882434		2203	4300	6503	SO:0001583	missense				CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813	3185	3185		RNA binding motif (RRM) containing	5039	protein-coding gene	gene with protein product		601037		HNRPF	NA	7499401	Standard		NM_001098208	NA	Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.899C>T	10.37:g.43882434G>A	ENSP00000438061:p.Ala300Val	NA	B3KM84|Q5T0N2|Q96AU2	37	CCDS7204.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016128	0.54468	.	.	ENSG00000169813	ENST00000544000;ENST00000443950;ENST00000356053;ENST00000357065;ENST00000337970;ENST00000540544	T;T;T;T;T	0.05855	3.38;3.38;3.38;3.38;3.38	4.38	3.48	0.39840	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.17450	0.0419	L	0.58669	1.825	0.80722	D	1	D	0.76494	0.999	D	0.68943	0.961	T	0.00766	-1.1575	10	0.41790	T	0.15	-29.7746	10.982	0.47499	0.0928:0.0:0.9072:0.0	.	300	P52597	HNRPF_HUMAN	V	300;300;300;300;300;223	ENSP00000438061:A300V;ENSP00000400433:A300V;ENSP00000348345:A300V;ENSP00000349573:A300V;ENSP00000338477:A300V	ENSP00000338477:A300V	A	-	2	0	HNRNPF	43202440	1.000000	0.71417	0.837000	0.33122	0.698000	0.40448	8.811000	0.91954	1.446000	0.47643	0.655000	0.94253	GCG	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047705.2		-	ENST00000544000.1	Missense_Mutation	SNP	10 : 43882434 - 43882434 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	347	61
CNPPD1	27013	broad.mit.edu	37	2	220037375	220037375	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220037375G>T	ENST00000409789.1	-	9	1593	c.1166C>A	c.(1165-1167)cCt>cAt	p.P389H	CNPPD1_ENST00000360507.5_Missense_Mutation_p.P389H			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	389	Pro-rich.				regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						ACATTGCTGAGGCTGAGGAAG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	83	83			NA	NA	2		NA											NA				220037375		2203	4300	6503	SO:0001583	missense			AF070638	CCDS2433.1	2q36	2011-03-23	2011-03-23	2011-03-23	ENSG00000115649	ENSG00000115649	27013	27013			25220	protein-coding gene	gene with protein product			chromosome 2 open reading frame 24	C2orf24	NA	8619474, 9110174	Standard	NM_015680	NM_015680	NA	Approved	CGI-57	uc002vju.4	Q9BV87	OTTHUMG00000133132	ENST00000409789.1:c.1166C>A	2.37:g.220037375G>T	ENSP00000386277:p.Pro389His	NA	B2RC77|O75548|Q9H4N0|Q9UQN0	37	CCDS2433.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133740	0.37630	.	.	ENSG00000115649	ENST00000360507;ENST00000409789	T;T	0.17054	2.3;2.3	5.04	5.04	0.67666	.	0.414350	0.26136	N	0.026127	T	0.18923	0.0454	L	0.29908	0.895	0.25133	N	0.990553	D	0.63046	0.992	P	0.52710	0.707	T	0.08186	-1.0734	10	0.72032	D	0.01	-3.7987	7.7599	0.28946	0.1401:0.0:0.8599:0.0	.	389	Q9BV87	CNPD1_HUMAN	H	389	ENSP00000353698:P389H;ENSP00000386277:P389H	ENSP00000353698:P389H	P	-	2	0	CNPPD1	219745619	1.000000	0.71417	1.000000	0.80357	0.389000	0.30415	3.285000	0.51716	2.609000	0.88269	0.655000	0.94253	CCT	CNPPD1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336220.1		-	ENST00000409789.1	Missense_Mutation	SNP	2 : 220037375 - 220037375 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	537	99
SLC15A4	121260	broad.mit.edu	37	12	129299465	129299465	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:129299465C>T	ENST00000266771.5	-	2	736	c.697G>A	c.(697-699)Gtc>Atc	p.V233I	SLC15A4_ENST00000539703.1_5'UTR	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	233					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		GCAAGGCCGACGCAGACAGTG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													197	179	185			NA	NA	12		NA											NA				129299465		2203	4300	6503	SO:0001583	missense			AY038999	CCDS9264.1	12q24.32	2013-07-18	2013-07-18		ENSG00000139370	ENSG00000139370	121260	121260		Solute carriers	23090	protein-coding gene	gene with protein product		615806	solute carrier family 15, member 4		NA	11741232	Standard	NM_145648	NM_145648	NA	Approved	PHT1, PTR4	uc001uhu.2	Q8N697	OTTHUMG00000168415	ENST00000266771.5:c.697G>A	12.37:g.129299465C>T	ENSP00000266771:p.Val233Ile	NA	A6H8Y9|B3KTK1|Q71M34|Q7Z5F8|Q8TAH0	37	CCDS9264.1	.	.	.	.	.	.	.	.	.	.	C	5.065	0.197674	0.09652	.	.	ENSG00000139370	ENST00000266771	T	0.04156	3.69	5.7	2.46	0.29980	Major facilitator superfamily domain, general substrate transporter (1);	0.219518	0.47093	N	0.000258	T	0.01592	0.0051	N	0.01250	-0.93	0.80722	D	1	B	0.21606	0.058	B	0.18263	0.021	T	0.54248	-0.8322	10	0.21540	T	0.41	.	6.7249	0.23350	0.0:0.27:0.0:0.73	.	233	Q8N697	S15A4_HUMAN	I	233	ENSP00000266771:V233I	ENSP00000266771:V233I	V	-	1	0	SLC15A4	127865418	1.000000	0.71417	0.438000	0.26821	0.203000	0.24098	1.962000	0.40442	0.232000	0.21100	0.591000	0.81541	GTC	SLC15A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399663.1		-	ENST00000266771.5	Missense_Mutation	SNP	12 : 129299465 - 129299465 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	665	113
CST2	1470	broad.mit.edu	37	20	23807128	23807128	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23807128T>C	ENST00000304725.2	-	1	240	c.170A>G	c.(169-171)aAg>aGg	p.K57R		NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN	cystatin SA	57						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						TTCAGTGGCCTTGTTATACTC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(193;496 3017 22514 29918)							NA				0													134	107	116			NA	NA	20		NA											NA				23807128		2203	4300	6503	SO:0001583	missense			M19671	CCDS13161.1	20p11.2	2007-11-29			ENSG00000170369	ENSG00000170369	1470	1470			2474	protein-coding gene	gene with protein product	cystatin 2	123856			NA		Standard		NM_001322	NA	Approved		uc002wtq.1	P09228	OTTHUMG00000032086	ENST00000304725.2:c.170A>G	20.37:g.23807128T>C	ENSP00000307540:p.Lys57Arg	NA	Q9UCQ7	37	CCDS13161.1	.	.	.	.	.	.	.	.	.	.	T	5.075	0.199532	0.09652	.	.	ENSG00000170369	ENST00000304725	T	0.14640	2.49	1.88	1.88	0.25563	Proteinase inhibitor I25, cystatin (2);	0.552916	0.18943	N	0.126892	T	0.14485	0.0350	M	0.62723	1.935	0.09310	N	1	B	0.18863	0.031	B	0.30855	0.121	T	0.19745	-1.0296	10	0.31617	T	0.26	.	5.7205	0.17985	0.0:0.0:0.0:1.0	.	57	P09228	CYTT_HUMAN	R	57	ENSP00000307540:K57R	ENSP00000307540:K57R	K	-	2	0	CST2	23755128	0.097000	0.21791	0.004000	0.12327	0.024000	0.10985	0.474000	0.22148	0.858000	0.35431	0.248000	0.18094	AAG	CST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078352.2		-	ENST00000304725.2	Missense_Mutation	SNP	20 : 23807128 - 23807128 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	367	30
FANCC	2176	broad.mit.edu	37	9	97879632	97879632	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:97879632G>A	ENST00000289081.3	-	11	1291	c.1037C>T	c.(1036-1038)cCa>cTa	p.P346L	FANCC_ENST00000375305.1_Missense_Mutation_p.P346L|FANCC_ENST00000464653.1_5'UTR	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	346					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				GGCAAGAGATGGAGAAGTGTA	0.458		NA	D, Mis, N, F, S			AML, leukemia		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Fanconi anaemia C	9	9q22.3	2176	Fanconi anemia, complementation group C		L	0													100	90	93			NA	NA	9		NA											NA				97879632		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169	2176	2176		Fanconi anemia, complementation groups	3584	protein-coding gene	gene with protein product		613899		FACC	NA	1303234	Standard	NM_000136	NM_001243743	NA	Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.1037C>T	9.37:g.97879632G>A	ENSP00000289081:p.Pro346Leu	NA	B1ALR8	37	CCDS35071.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864764	0.51482	.	.	ENSG00000158169	ENST00000289081;ENST00000375305	T;T	0.54675	0.56;0.56	5.65	5.65	0.86999	.	0.330468	0.33980	N	0.004380	T	0.53997	0.1831	M	0.67953	2.075	0.21416	N	0.999698	D	0.56521	0.976	P	0.46419	0.516	T	0.59257	-0.7488	10	0.59425	D	0.04	-7.3384	9.5099	0.39071	0.0:0.1275:0.6774:0.1952	.	346	Q00597	FANCC_HUMAN	L	346	ENSP00000289081:P346L;ENSP00000364454:P346L	ENSP00000289081:P346L	P	-	2	0	FANCC	96919453	0.882000	0.30256	0.325000	0.25375	0.484000	0.33280	2.583000	0.46094	2.941000	0.99782	0.655000	0.94253	CCA	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053219.1		-	ENST00000289081.3	Missense_Mutation	SNP	9 : 97879632 - 97879632 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	180	25
FREM1	158326	broad.mit.edu	37	9	14769800	14769800	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14769800T>C	ENST00000380880.3	-	27	5909	c.5126A>G	c.(5125-5127)aAc>aGc	p.N1709S	FREM1_ENST00000486223.1_5'UTR|FREM1_ENST00000380881.4_Missense_Mutation_p.N1710S|FREM1_ENST00000380894.1_Missense_Mutation_p.N245S|FREM1_ENST00000422223.2_Missense_Mutation_p.N1709S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1709					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CAAAGATGGGTTTATGATGTA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	81	81			NA	NA	9		NA											NA				14769800		1807	4072	5879	SO:0001583	missense			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946	158326	158326			23399	protein-coding gene	gene with protein product		608944	chromosome 9 open reading frame 154	C9orf154	NA	12838346, 15345741	Standard	NM_144966	NM_144966	NA	Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.5126A>G	9.37:g.14769800T>C	ENSP00000370262:p.Asn1709Ser	NA	Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	37	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	T	13.99	2.402500	0.42613	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880;ENST00000380892	T;T;T;T	0.50001	2.86;2.86;0.76;2.86	5.86	4.72	0.59763	.	0.090442	0.85682	N	0.000000	T	0.45216	0.1331	M	0.66506	2.035	0.38529	D	0.948913	B;B	0.20261	0.006;0.043	B;B	0.18871	0.023;0.014	T	0.42137	-0.9469	10	0.33940	T	0.23	-20.8851	10.9464	0.47304	0.0:0.077:0.0:0.923	.	1709;245	Q5H8C1;B7ZBX4	FREM1_HUMAN;.	S	1710;1709;245;1709;122	ENSP00000370263:N1710S;ENSP00000412940:N1709S;ENSP00000370278:N245S;ENSP00000370262:N1709S	ENSP00000370262:N1709S	N	-	2	0	FREM1	14759800	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.107000	0.50329	1.140000	0.42260	0.528000	0.53228	AAC	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339474.2		-	ENST00000380880.3	Missense_Mutation	SNP	9 : 14769800 - 14769800 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	155	7
TBK1	29110	broad.mit.edu	37	12	64895141	64895141	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64895141C>T	ENST00000331710.5	+	21	2509	c.2170C>T	c.(2170-2172)Cgc>Tgc	p.R724C		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	724					I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		TGGTGGCCTTCGCAACGTTGA	0.368		NA											C	3	0.0014	NA	NA	2184	0.01	1	,	,	NA	8e-04	NA	NA	NA	0.0014	0.9844	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0													170	165	167			NA	NA	12		NA											NA				64895141		2203	4300	6503	SO:0001583	missense			AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735	29110	29110			11584	protein-coding gene	gene with protein product		604834			NA	10581243, 10783893	Standard	NM_013254	NM_013254	NA	Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.2170C>T	12.37:g.64895141C>T	ENSP00000329967:p.Arg724Cys	NA	A8K4S4|Q8IYV3|Q9NUJ5	37	CCDS8968.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	19.42	3.823372	0.71143	.	.	ENSG00000183735	ENST00000331710	T	0.70986	-0.53	5.72	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.60676	0.2287	N	0.08118	0	0.58432	D	0.999993	D	0.89917	1.0	D	0.77557	0.99	T	0.64736	-0.6337	9	.	.	.	-4.5344	14.5605	0.68133	0.2533:0.7467:0.0:0.0	.	724	Q9UHD2	TBK1_HUMAN	C	724	ENSP00000329967:R724C	.	R	+	1	0	TBK1	63181408	0.259000	0.24043	1.000000	0.80357	0.979000	0.70002	0.370000	0.20433	2.873000	0.98535	0.563000	0.77884	CGC	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401130.1		+	ENST00000331710.5	Missense_Mutation	SNP	12 : 64895141 - 64895141 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	686	112
ELAVL3	1995	broad.mit.edu	37	19	11568960	11568960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11568960G>A	ENST00000359227.3	-	5	1053	c.629C>T	c.(628-630)aCg>aTg	p.T210M	ELAVL3_ENST00000438662.2_Missense_Mutation_p.T210M	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	210					cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						CGCCTGCCCCGTCTTCTGACT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	80	83			NA	NA	19		NA											NA				11568960		2203	4300	6503	SO:0001583	missense				CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361	1995	1995		RNA binding motif (RRM) containing	3314	protein-coding gene	gene with protein product	Hu antigen C, paraneoplastic limbic encephalitis antigen 21, paraneoplastic cerebellar degeneration-associated antigen, ELAV-like protein 3	603458	ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)		NA	9799595	Standard	NM_001420	NM_001420	NA	Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.629C>T	19.37:g.11568960G>A	ENSP00000352162:p.Thr210Met	NA	Q16135|Q96CL8|Q96QS9	37	CCDS32912.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047153	0.55110	.	.	ENSG00000196361	ENST00000359227;ENST00000438662	T;T	0.08720	3.36;3.06	4.95	3.89	0.44902	Nucleotide-binding, alpha-beta plait (1);	0.052555	0.85682	D	0.000000	T	0.10380	0.0254	M	0.64997	1.995	0.80722	D	1	B;B	0.31256	0.211;0.316	B;B	0.25987	0.048;0.065	T	0.07693	-1.0759	10	0.31617	T	0.26	.	13.5258	0.61594	0.0:0.0:0.8423:0.1577	.	210;210	Q14576;Q14576-2	ELAV3_HUMAN;.	M	210	ENSP00000352162:T210M;ENSP00000390878:T210M	ENSP00000352162:T210M	T	-	2	0	ELAVL3	11429960	1.000000	0.71417	0.837000	0.33122	0.967000	0.64934	9.395000	0.97266	1.068000	0.40764	0.478000	0.44815	ACG	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458827.2		-	ENST00000359227.3	Missense_Mutation	SNP	19 : 11568960 - 11568960 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	518	95
KIAA0408	9729	broad.mit.edu	37	6	127771254	127771254	+	Nonsense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127771254T>A	ENST00000483725.3	-	3	715	c.379A>T	c.(379-381)Aaa>Taa	p.K127*	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	127							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		ACTTTTGATTTTTTTGTTGCT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	136	139			NA	NA	6		NA											NA				127771254		2203	4300	6503	SO:0001587	stop_gained			AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367	9729	9729			21636	protein-coding gene	gene with protein product					NA		Standard	NM_014702	NM_014702	NA	Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.379A>T	6.37:g.127771254T>A	ENSP00000435150:p.Lys127*	NA	B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	37	CCDS34531.1	.	.	.	.	.	.	.	.	.	.	T	32	5.134437	0.94517	.	.	ENSG00000189367	ENST00000483725;ENST00000487331	.	.	.	5.18	2.82	0.32997	.	0.161017	0.28031	U	0.016865	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4347	7.355	0.26714	0.0:0.2632:0.0:0.7368	.	.	.	.	X	127;139	.	ENSP00000435150:K127X	K	-	1	0	KIAA0408	127812947	0.003000	0.15002	0.002000	0.10522	0.735000	0.41995	1.154000	0.31688	0.448000	0.26722	0.533000	0.62120	AAA	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042145.3		-	ENST00000483725.3	Nonsense_Mutation	SNP	6 : 127771254 - 127771254 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	811	161
PLXDC1	57125	broad.mit.edu	37	17	37296038	37296038	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37296038G>A	ENST00000315392.4	-	2	335	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W	PLXDC1_ENST00000539608.1_5'UTR|PLXDC1_ENST00000394316.2_Missense_Mutation_p.R42W|PLXDC1_ENST00000444911.2_Intron	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	42					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TTCCAGCCCCGCACGGTCCCT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	45	45			NA	NA	17		NA											NA				37296038		2203	4300	6503	SO:0001583	missense			AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381	57125	57125			20945	protein-coding gene	gene with protein product	tumor endothelial marker 7 precursor	606826			NA	10947988, 11559528	Standard	NM_020405	NM_020405	NA	Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.124C>T	17.37:g.37296038G>A	ENSP00000323927:p.Arg42Trp	NA	B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	37	CCDS11333.1	.	.	.	.	.	.	.	.	.	.	G	2.372	-0.344085	0.05208	.	.	ENSG00000161381	ENST00000315392;ENST00000394316	T	0.24908	1.83	5.39	2.11	0.27256	.	1.246720	0.05575	N	0.571727	T	0.12518	0.0304	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28202	-1.0051	10	0.36615	T	0.2	0.0837	3.5256	0.07759	0.0912:0.2012:0.5364:0.1712	.	42	Q8IUK5	PXDC1_HUMAN	W	42	ENSP00000323927:R42W	ENSP00000323927:R42W	R	-	1	2	PLXDC1	34549564	0.002000	0.14202	0.001000	0.08648	0.010000	0.07245	1.263000	0.33004	0.167000	0.19631	-0.397000	0.06425	CGG	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256892.2		-	ENST00000315392.4	Missense_Mutation	SNP	17 : 37296038 - 37296038 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	382	58
DDOST	1650	broad.mit.edu	37	1	20987419	20987419	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20987419C>A	ENST00000375048.3	-	2	376	c.271G>T	c.(271-273)Gaa>Taa	p.E91*	DDOST_ENST00000602624.2_Nonsense_Mutation_p.E74*|DDOST_ENST00000415136.2_Intron|DDOST_ENST00000477229.1_5'UTR	NM_005216.4	NP_005207	P39656	OST48_HUMAN	dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)	91					innate immune response|post-translational protein modification|response to cytokine stimulus|T cell activation	integral to membrane|microsome|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TAGAGGAATTCCCCATACTTT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	69	70			NA	NA	1		NA											NA				20987419		2203	4300	6503	SO:0001587	stop_gained			D29643	CCDS212.1	1p36.1	2013-03-06	2013-03-06		ENSG00000244038	ENSG00000244038	1650	1650	2.4.1.119		2728	protein-coding gene	gene with protein product	oligosaccharyltransferase subunit 48	602202	dolichyl-diphosphooligosaccharide-protein glycosyltransferase, dolichyl-diphosphooligosaccharide--protein glycosyltransferase		NA	9367678	Standard	NM_005216	NM_005216	NA	Approved	OST, KIAA0115, OST48, WBP1	uc001bdo.1	P39656	OTTHUMG00000002844	ENST00000375048.3:c.271G>T	1.37:g.20987419C>A	ENSP00000364188:p.Glu91*	NA	B2RDQ4|O43244|Q5VWA5|Q8NI93|Q9BUI2	37	CCDS212.1	.	.	.	.	.	.	.	.	.	.	C	37	6.559908	0.97663	.	.	ENSG00000244038	ENST00000375048	.	.	.	5.1	5.1	0.69264	.	0.053951	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-34.5713	18.9259	0.92544	0.0:1.0:0.0:0.0	.	.	.	.	X	91	.	ENSP00000364188:E91X	E	-	1	0	DDOST	20860006	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.056000	0.71111	2.547000	0.85894	0.655000	0.94253	GAA	DDOST-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007961.2		-	ENST00000375048.3	Nonsense_Mutation	SNP	1 : 20987419 - 20987419 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	235	18
KIAA1211	57482	broad.mit.edu	37	4	57193927	57193927	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57193927G>T	ENST00000504228.1	+	9	3764	c.3659G>T	c.(3658-3660)aGg>aTg	p.R1220M	KIAA1211_ENST00000264229.6_Missense_Mutation_p.R1220M|KIAA1211_ENST00000541073.1_Missense_Mutation_p.R1213M			Q6ZU35	K1211_HUMAN	KIAA1211	1220										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TTGGCCAAAAGGAAAGCAAAG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	90	89			NA	NA	4		NA											NA				57193927		1866	4098	5964	SO:0001583	missense			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265	57482	57482			29219	protein-coding gene	gene with protein product					NA	10574462, 11230166	Standard	NM_020722	NM_020722	NA	Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3659G>T	4.37:g.57193927G>T	ENSP00000423366:p.Arg1220Met	NA	Q9NTE2|Q9NTP8|Q9ULK9	37	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.009568	0.93346	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073	T;T;T	0.78595	-1.19;-1.19;-1.19	5.69	5.69	0.88448	.	.	.	.	.	D	0.87497	0.6192	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87873	0.2672	9	0.87932	D	0	-14.174	19.817	0.96573	0.0:0.0:1.0:0.0	.	1213;1220	F5H1N7;Q6ZU35	.;K1211_HUMAN	M	1220;1220;1213	ENSP00000264229:R1220M;ENSP00000423366:R1220M;ENSP00000444006:R1213M	ENSP00000264229:R1220M	R	+	2	0	KIAA1211	56888684	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.678000	0.91216	0.655000	0.94253	AGG	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362097.2		+	ENST00000504228.1	Missense_Mutation	SNP	4 : 57193927 - 57193927 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	741	162
MED15	51586	broad.mit.edu	37	22	20921060	20921060	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20921060G>T	ENST00000263205.7	+	7	1066	c.997G>T	c.(997-999)Gct>Tct	p.A333S	MED15_ENST00000478831.1_3'UTR|MED15_ENST00000292733.7_Missense_Mutation_p.A333S|MED15_ENST00000382974.2_Missense_Mutation_p.A262S|MED15_ENST00000425759.2_Missense_Mutation_p.A222S|MED15_ENST00000542773.1_Missense_Mutation_p.A138S|MED15_ENST00000541476.1_Missense_Mutation_p.A307S|MED15_ENST00000406969.1_Missense_Mutation_p.A307S	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	333	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			ACAGGCGCAAGCTCTCCCTGG	0.582		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	22		NA											NA				20921060		2203	4300	6503	SO:0001583	missense			AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917	51586	51586			14248	protein-coding gene	gene with protein product		607372	trinucleotide repeat containing 7, PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein	TNRC7, PCQAP	NA	11024300, 11414760, 15175163	Standard	NM_015889	XM_005261632	NA	Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.997G>T	22.37:g.20921060G>T	ENSP00000263205:p.Ala333Ser	NA	D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	37	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	G	9.669	1.146195	0.21288	.	.	ENSG00000099917	ENST00000425759;ENST00000292733;ENST00000542773;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000542312	T	0.44482	0.92	5.13	1.87	0.25490	Mediator complex, subunit Med15, metazoa (1);	0.675615	0.14883	N	0.292854	T	0.30479	0.0766	L	0.49350	1.555	0.38124	D	0.937955	B;B;B;B;B;B	0.23442	0.005;0.005;0.004;0.004;0.085;0.069	B;B;B;B;B;B	0.24974	0.038;0.038;0.022;0.022;0.057;0.055	T	0.08576	-1.0715	10	0.12430	T	0.62	.	5.0251	0.14381	0.2548:0.155:0.5902:0.0	.	279;352;307;333;333;262	B4DGD6;Q6PKB8;G3V1P5;Q96RN5-2;Q96RN5;Q96RN5-3	.;.;.;.;MED15_HUMAN;.	S	222;333;138;333;307;262;307;279	ENSP00000263205:A333S	ENSP00000263205:A333S	A	+	1	0	MED15	19251060	0.790000	0.28787	0.992000	0.48379	0.121000	0.20230	2.198000	0.42705	0.390000	0.25115	-0.136000	0.14681	GCT	MED15-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320177.2		+	ENST00000263205.7	Missense_Mutation	SNP	22 : 20921060 - 20921060 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	907	150
GPRIN2	9721	broad.mit.edu	37	10	46999004	46999004	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46999004A>C	ENST00000374317.1	+	3	397	c.124A>C	c.(124-126)Act>Cct	p.T42P	GPRIN2_ENST00000374314.4_Missense_Mutation_p.T42P	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	42										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GCTCCGCAAGACTGCCAGCAG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	42	39			NA	NA	10		NA											NA				46999004		2201	4299	6500	SO:0001583	missense			BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175	9721	9721			23730	protein-coding gene	gene with protein product		611240	KIAA0514	KIAA0514	NA	9628581	Standard	NM_014696	NM_014696	NA	Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.124A>C	10.37:g.46999004A>C	ENSP00000363436:p.Thr42Pro	NA	Q5SVF0	37	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.719055	0.48622	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03689	3.84;3.84	5.44	4.31	0.51392	.	0.509005	0.18304	N	0.145333	T	0.02342	0.0072	N	0.14661	0.345	0.21802	N	0.99954	P	0.34977	0.478	B	0.26416	0.069	T	0.45512	-0.9256	10	0.66056	D	0.02	-3.7877	8.1206	0.30969	0.9086:0.0:0.0914:0.0	.	42	O60269	GRIN2_HUMAN	P	42	ENSP00000363436:T42P;ENSP00000363433:T42P	ENSP00000363433:T42P	T	+	1	0	GPRIN2	46419010	1.000000	0.71417	0.885000	0.34714	0.783000	0.44284	6.867000	0.75511	1.026000	0.39733	0.533000	0.62120	ACT	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047836.1		+	ENST00000374317.1	Missense_Mutation	SNP	10 : 46999004 - 46999004 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	556	47
STK32A	202374	broad.mit.edu	37	5	146703542	146703542	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:146703542G>A	ENST00000398523.3	+	5	513	c.342G>A	c.(340-342)caG>caA	p.Q114Q	STK32A_ENST00000541094.1_Silent_p.Q114Q|STK32A_ENST00000398521.3_Silent_p.Q114Q|STK32A_ENST00000397936.3_Silent_p.Q114Q			Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	114	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGCAACAGAACGTCCACT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	70	68			NA	NA	5		NA											NA				146703542		2156	4290	6446	SO:0001819	synonymous_variant				CCDS47299.1, CCDS75351.1	5q32	2008-02-05			ENSG00000169302	ENSG00000169302	202374	202374			28317	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_145001	NM_001112724	NA	Approved	MGC22688, YANK1	uc010jgn.1	Q8WU08	OTTHUMG00000163411	ENST00000398523.3:c.342G>A	5.37:g.146703542G>A		NA	B3KSY0	37																																																																																				STK32A-001	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000373237.2		+	ENST00000398523.3	Silent	SNP	5 : 146703542 - 146703542 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	133	11
EXTL2	2135	broad.mit.edu	37	1	101343202	101343202	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101343202G>T	ENST00000370114.3	-	3	1699	c.263C>A	c.(262-264)gCt>gAt	p.A88D	EXTL2_ENST00000535414.1_Missense_Mutation_p.A75D|EXTL2_ENST00000370113.3_Missense_Mutation_p.A88D	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	88					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		ATTTGGTACAGCCTGATAATG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	139	139			NA	NA	1		NA											NA				101343202		2203	4300	6503	SO:0001583	missense			U76189	CCDS775.1, CCDS72831.1	1p21	2013-03-01	2013-03-01		ENSG00000162694	ENSG00000162694	2135	2135	2.4.1.223	Exostosin glycosyltransferase family	3516	protein-coding gene	gene with protein product	alpha-1,4-N-acteylhexosaminyltransferase	602411	exostoses (multiple)-like 2		NA	9450183, 15831490	Standard	NM_001439	NM_001439	NA	Approved		uc001dtk.2	Q9UBQ6	OTTHUMG00000011814	ENST00000370114.3:c.263C>A	1.37:g.101343202G>T	ENSP00000359132:p.Ala88Asp	NA	B2R795|D3DT60	37	CCDS775.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.959892	0.92791	.	.	ENSG00000162694	ENST00000370114;ENST00000370113;ENST00000535414;ENST00000450240;ENST00000416479	T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17	5.61	5.61	0.85477	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.85712	0.5760	M	0.74647	2.275	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.63877	0.919;0.919	D	0.85227	0.1030	10	0.54805	T	0.06	-22.5163	20.0018	0.97417	0.0:0.0:1.0:0.0	.	88;88	Q8N8F1;Q9UBQ6	.;EXTL2_HUMAN	D	88;88;75;96;75	ENSP00000359132:A88D;ENSP00000359131:A88D;ENSP00000444385:A75D;ENSP00000403363:A96D;ENSP00000392255:A75D	ENSP00000359131:A88D	A	-	2	0	EXTL2	101115790	1.000000	0.71417	0.963000	0.40424	0.825000	0.46686	6.182000	0.71995	2.793000	0.96121	0.655000	0.94253	GCT	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032705.1		-	ENST00000370114.3	Missense_Mutation	SNP	1 : 101343202 - 101343202 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	425	51
SYCP2	10388	broad.mit.edu	37	20	58439413	58439413	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58439413C>T	ENST00000357552.3	-	45	4771	c.4546G>A	c.(4546-4548)Gaa>Aaa	p.E1516K	SYCP2_ENST00000371001.2_Missense_Mutation_p.E1516K			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1516					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GACATCAGTTCTCTGCGTACA	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	60	62			NA	NA	20		NA											NA				58439413		2201	4291	6492	SO:0001583	missense			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074	10388	10388			11490	protein-coding gene	gene with protein product		604105			NA	10341103, 9592139	Standard	NM_014258	NM_014258	NA	Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.4546G>A	20.37:g.58439413C>T	ENSP00000350162:p.Glu1516Lys	NA	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	37	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981641	0.53827	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000412613	T;T	0.14022	2.54;2.54	5.31	4.37	0.52481	.	0.095117	0.46145	D	0.000303	T	0.09335	0.0230	N	0.14661	0.345	0.23186	N	0.998152	B	0.25169	0.119	B	0.26416	0.069	T	0.24119	-1.0169	10	0.59425	D	0.04	-9.4305	11.6587	0.51334	0.0:0.9131:0.0:0.0869	.	1516	Q9BX26	SYCP2_HUMAN	K	1516;1516;202	ENSP00000360040:E1516K;ENSP00000350162:E1516K	ENSP00000350162:E1516K	E	-	1	0	SYCP2	57872808	1.000000	0.71417	0.983000	0.44433	0.844000	0.47949	3.194000	0.51005	1.250000	0.43966	0.305000	0.20034	GAA	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079930.3		-	ENST00000357552.3	Missense_Mutation	SNP	20 : 58439413 - 58439413 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	102	9
RELN	5649	broad.mit.edu	37	7	103292173	103292173	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103292173T>C	ENST00000428762.1	-	15	1986	c.1827A>G	c.(1825-1827)ttA>ttG	p.L609L	RELN_ENST00000424685.2_Silent_p.L609L|RELN_ENST00000343529.5_Silent_p.L609L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	609					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)		AGATCTCAGGTAAGCATTCAG	0.483		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													81	66	71			NA	NA	7		NA											NA				103292173		2203	4300	6503	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.1827A>G	7.37:g.103292173T>C		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 : 103292173 - 103292173 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	30
MYO15A	51168	broad.mit.edu	37	17	18062626	18062626	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18062626G>T	ENST00000418233.3	+	12	1608	c.986G>T	c.(985-987)aGc>aTc	p.S329I	MYO15A_ENST00000205890.5_Missense_Mutation_p.S3065I			Q9UKN7	MYO15_HUMAN	myosin XVA	3065	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTCAGCGACAGCAGCCTCAGC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	94	92			NA	NA	17		NA											NA				18062626		2119	4225	6344	SO:0001583	missense			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536	51168	51168		Myosins / Myosin superfamily : Class XV	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15	NA	9603736	Standard	NM_016239	NM_016239	NA	Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000418233.3:c.986G>T	17.37:g.18062626G>T	ENSP00000408800:p.Ser329Ile	NA		37		.	.	.	.	.	.	.	.	.	.	G	9.363	1.068420	0.20067	.	.	ENSG00000091536	ENST00000205890;ENST00000418233;ENST00000556535	D;D	0.94966	-2.38;-3.57	4.94	1.56	0.23342	MyTH4 domain (2);	.	.	.	.	D	0.90229	0.6945	L	0.48642	1.525	0.80722	D	1	P;B;B	0.40000	0.698;0.429;0.437	B;B;B	0.37047	0.205;0.24;0.091	D	0.84921	0.0854	9	0.42905	T	0.14	.	9.9795	0.41804	0.1341:0.2133:0.6525:0.0	.	54;329;3065	B4DLV9;B4DFC7;Q9UKN7	.;.;MYO15_HUMAN	I	3065;54;19	ENSP00000205890:S3065I;ENSP00000451782:S19I	ENSP00000205890:S3065I	S	+	2	0	MYO15A	18003351	0.996000	0.38824	0.999000	0.59377	0.763000	0.43281	1.147000	0.31602	0.132000	0.18615	-1.598000	0.00824	AGC	MYO15A-009	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000446125.1		+	ENST00000418233.3	Missense_Mutation	SNP	17 : 18062626 - 18062626 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	47
CIB2	10518	broad.mit.edu	37	15	78398176	78398176	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78398176G>A	ENST00000258930.3	-	5	775	c.447C>T	c.(445-447)tgC>tgT	p.C149C	CIB2_ENST00000557846.1_Silent_p.C100C|CIB2_ENST00000539011.1_Silent_p.C106C|CIB2_ENST00000560618.1_Silent_p.C106C	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	149	EF-hand 3.						calcium ion binding	p.C149C(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						TGACCTTGTCGCACACAAGCA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)						G		0,4392		0,0,2196	219	172	188		447	-8.9	0.5	15		188	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous	CIB2	NM_006383.2		0,1,6488	AA,AG,GG	NA	0.0116,0.0,0.0077		149/188	78398176	1,12977	2196	4293	6489	SO:0001819	synonymous_variant			BC047381	CCDS10296.1, CCDS61722.1, CCDS61723.1	15q24	2013-01-10			ENSG00000136425	ENSG00000136425	10518	10518		EF-hand domain containing	24579	protein-coding gene	gene with protein product		605564	deafness, autosomal recessive 48, Usher syndrome 1J (autosomal recessive)	DFNB48, USH1J	NA	9931475, 23023331	Standard	NM_006383	NM_006383	NA	Approved	KIP2	uc002bdb.2	O75838	OTTHUMG00000143731	ENST00000258930.3:c.447C>T	15.37:g.78398176G>A		NA		37	CCDS10296.1																																																																																			CIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000289798.1		-	ENST00000258930.3	Silent	SNP	15 : 78398176 - 78398176 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	454	37
TIPARP	25976	broad.mit.edu	37	3	156421357	156421357	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:156421357A>G	ENST00000461166.1	+	5	1980	c.1392A>G	c.(1390-1392)caA>caG	p.Q464Q	TIPARP_ENST00000542783.1_Silent_p.Q464Q|TIPARP_ENST00000295924.7_Silent_p.Q464Q|TIPARP_ENST00000486483.1_Silent_p.Q464Q	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	464	PARP catalytic.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ACTTCATCCAAGTCCCTGTTT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(171;276 1987 3319 6837 11197)							NA				0													98	100	99			NA	NA	3		NA											NA				156421357		2203	4300	6503	SO:0001819	synonymous_variant			BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659	25976	25976		Poly (ADP-ribose) polymerases	23696	protein-coding gene	gene with protein product		612480			NA	12851707	Standard	NM_015508	NM_001184717	NA	Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.1392A>G	3.37:g.156421357A>G		NA	D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	37	CCDS3177.1	.	.	.	.	.	.	.	.	.	.	A	8.957	0.969552	0.18659	.	.	ENSG00000163659	ENST00000495891	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	T	0.71160	0.3307	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70601	-0.4827	4	.	.	.	.	14.9953	0.71428	1.0:0.0:0.0:0.0	.	.	.	.	G	167	.	.	S	+	1	0	TIPARP	157904051	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.920000	0.70017	2.018000	0.59344	0.528000	0.53228	AGT	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351618.1		+	ENST00000461166.1	Silent	SNP	3 : 156421357 - 156421357 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	489	42
SEMA3D	223117	broad.mit.edu	37	7	84651735	84651735	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:84651735G>A	ENST00000284136.6	-	11	1429	c.1386C>T	c.(1384-1386)ggC>ggT	p.G462G	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	462	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CATCGTACTGGCCATCTTCTG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(63;442 1191 17318 29975 31528)							NA				0													245	218	227			NA	NA	7		NA											NA				84651735		2203	4300	6503	SO:0001819	synonymous_variant			BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993	223117	223117		Semaphorins, Immunoglobulin superfamily / V-set domain containing	10726	protein-coding gene	gene with protein product		609907			NA		Standard	NM_152754	NM_152754	NA	Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1386C>T	7.37:g.84651735G>A		NA	A6NK46|Q6UW77|Q8NCQ1	37	CCDS34676.1																																																																																			SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336084.2		-	ENST00000284136.6	Silent	SNP	7 : 84651735 - 84651735 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1138	229
AFMID	125061	broad.mit.edu	37	17	76187079	76187079	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76187079G>A	ENST00000586731.1	+	2	62	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	AFMID_ENST00000409257.5_Missense_Mutation_p.R31Q|AFMID_ENST00000591952.1_Missense_Mutation_p.R31Q|AFMID_ENST00000327898.5_Missense_Mutation_p.R31Q|AFMID_ENST00000588800.1_Missense_Mutation_p.R31Q|AFMID_ENST00000589256.1_Missense_Mutation_p.R31Q			Q63HM1	AFMID_HUMAN	arylformamidase	31						cytosol|nucleus	arylformamidase activity			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			TGTCCCAGCCGATGGGTTGTC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	114	83	93		92,92	1.7	1	17		93	0,8600		0,0,4300	no	missense,missense	AFMID	NM_001010982.4,NM_001145526.2	43,43	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	benign,benign	31/304,31/309	76187079	1,13005	2203	4300	6503	SO:0001583	missense			BX648442	CCDS32750.2, CCDS45801.1	17q25.3	2005-11-09			ENSG00000183077	ENSG00000183077	125061	125061	3.5.1.9		20910	protein-coding gene	gene with protein product					NA		Standard	XM_058889	NR_027083	NA	Approved	DKFZp686F03259, KF	uc002juz.3	Q63HM1	OTTHUMG00000153957	ENST00000586731.1:c.41G>A	17.37:g.76187079G>A	ENSP00000466241:p.Arg14Gln	NA	A2RUB3	37		.	.	.	.	.	.	.	.	.	.	G	4.510	0.094635	0.08681	2.27E-4	0.0	ENSG00000183077	ENST00000409257;ENST00000409431;ENST00000409722;ENST00000392388;ENST00000327898	.	.	.	4.81	1.68	0.24146	.	0.599357	0.14078	N	0.342936	T	0.19685	0.0473	N	0.21194	0.64	0.20563	N	0.999889	B;P;B;B	0.34462	0.029;0.454;0.001;0.006	B;B;B;B	0.23852	0.033;0.049;0.002;0.007	T	0.11665	-1.0578	9	0.18276	T	0.48	-3.4178	11.125	0.48312	0.2104:0.0:0.7896:0.0	.	31;31;31;31	A5PLM3;B8ZZB1;Q63HM1;Q63HM1-2	.;.;AFMID_HUMAN;.	Q	31	.	ENSP00000328938:R31Q	R	+	2	0	AFMID	73698674	1.000000	0.71417	0.953000	0.39169	0.005000	0.04900	1.756000	0.38390	-0.116000	0.11893	-1.307000	0.01316	CGA	AFMID-015	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000438866.1		+	ENST00000586731.1	Missense_Mutation	SNP	17 : 76187079 - 76187079 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	205	9
ABCG2	9429	broad.mit.edu	37	4	89016716	89016716	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89016716G>A	ENST00000237612.3	-	14	2238	c.1693C>T	c.(1693-1695)Ctg>Ttg	p.L565L	ABCG2_ENST00000515655.1_Silent_p.G561G	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	565	ABC transmembrane type-2.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	AGCCATGACAGCCAAGATGCA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	118	128			NA	NA	4		NA											NA				89016716		2203	4300	6503	SO:0001819	synonymous_variant			AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777	9429	9429		CD molecules, ATP binding cassette transporters / subfamily G	74	protein-coding gene	gene with protein product		603756	ATP-binding cassette, sub-family G (WHITE), member 2		NA	8894702, 9861027	Standard	NM_004827	NM_001257386	NA	Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.1693C>T	4.37:g.89016716G>A		NA	A0A1W3|A8K1T5|O95374|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	37	CCDS3628.1																																																																																			ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253051.1		-	ENST00000237612.3	Silent	SNP	4 : 89016716 - 89016716 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	44
OR5M3	219482	broad.mit.edu	37	11	56237597	56237597	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56237597T>G	ENST00000312240.2	-	1	417	c.377A>C	c.(376-378)aAt>aCt	p.N126T		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AAGCAGAGGATTCCCAATTGC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	89	91			NA	NA	11		NA											NA				56237597		2201	4269	6470	SO:0001583	missense			AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937	219482	219482		GPCR / Class A : Olfactory receptors	14806	protein-coding gene	gene with protein product					NA		Standard	NM_001004742	NM_001004742	NA	Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.377A>C	11.37:g.56237597T>G	ENSP00000312208:p.Asn126Thr	NA	B2RNM7|Q6IEW4|Q96RC0	37	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	T	5.237	0.229209	0.09916	.	.	ENSG00000174937	ENST00000312240	T	0.00382	7.61	5.13	4.01	0.46588	GPCR, rhodopsin-like superfamily (1);	0.697951	0.12939	N	0.426758	T	0.00524	0.0017	M	0.87328	2.875	0.09310	N	1	B	0.30281	0.275	B	0.33121	0.158	T	0.30736	-0.9968	10	0.66056	D	0.02	-0.3966	9.4625	0.38794	0.0:0.0846:0.0:0.9154	.	126	Q8NGP4	OR5M3_HUMAN	T	126	ENSP00000312208:N126T	ENSP00000312208:N126T	N	-	2	0	OR5M3	55994173	0.000000	0.05858	0.032000	0.17829	0.003000	0.03518	0.620000	0.24403	0.809000	0.34255	0.391000	0.25812	AAT	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391639.1		-	ENST00000312240.2	Missense_Mutation	SNP	11 : 56237597 - 56237597 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	561	107
HEATR5B	54497	broad.mit.edu	37	2	37283632	37283632	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37283632A>C	ENST00000233099.5	-	16	2445	c.2350T>G	c.(2350-2352)Tct>Gct	p.S784A	HEATR5B_ENST00000354531.2_Missense_Mutation_p.S784A	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	784							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AGGGCCACAGAAGCATCAATG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	96	94			NA	NA	2		NA											NA				37283632		2202	4300	6502	SO:0001583	missense			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869	54497	54497			29273	protein-coding gene	gene with protein product					NA	10718198	Standard	NM_019024	XM_005264379	NA	Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.2350T>G	2.37:g.37283632A>C	ENSP00000233099:p.Ser784Ala	NA	B5MDU8|Q7Z3B2|Q9NVL7	37	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	A	8.025	0.760378	0.15914	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.58652	0.32;0.32	5.5	5.5	0.81552	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.37625	0.1010	N	0.13168	0.305	0.58432	D	0.999998	B	0.09022	0.002	B	0.15052	0.012	T	0.31052	-0.9957	10	0.02654	T	1	-18.8094	15.5924	0.76543	1.0:0.0:0.0:0.0	.	784	Q9P2D3	HTR5B_HUMAN	A	784	ENSP00000233099:S784A;ENSP00000346531:S784A	ENSP00000233099:S784A	S	-	1	0	HEATR5B	37137136	1.000000	0.71417	0.661000	0.29709	0.879000	0.50718	9.287000	0.95975	2.086000	0.62901	0.482000	0.46254	TCT	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325492.1		-	ENST00000233099.5	Missense_Mutation	SNP	2 : 37283632 - 37283632 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	466	149
IL1RAPL2	26280	broad.mit.edu	37	X	104440202	104440202	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:104440202C>T	ENST00000372582.1	+	3	884	c.128C>T	c.(127-129)gCt>gTt	p.A43V	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.A43V	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	43	Ig-like C2-type 1.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ACATACATGGCTTTGGCAGGT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	142	155			NA	NA	X		NA											NA				104440202		2203	4300	6503	SO:0001583	missense			AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108	26280	26280		Interleukins and interleukin receptors, Immunoglobulin superfamily / Immunoglobulin-like domain containing	5997	protein-coding gene	gene with protein product		300277			NA	10757639	Standard	NM_017416	NM_017416	NA	Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.128C>T	X.37:g.104440202C>T	ENSP00000361663:p.Ala43Val	NA	Q9NZN0	37	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	C	5.307	0.242091	0.10077	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.73789	-0.78;-0.78	5.59	5.59	0.84812	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000030	T	0.37156	0.0993	N	0.00332	-1.63	0.80722	D	1	B	0.14012	0.009	B	0.17722	0.019	T	0.53781	-0.8390	10	0.02654	T	1	.	13.2374	0.59976	0.0:0.8453:0.1547:0.0	.	43	Q9NP60	IRPL2_HUMAN	V	43	ENSP00000361663:A43V;ENSP00000344976:A43V	ENSP00000344976:A43V	A	+	2	0	IL1RAPL2	104326858	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.439000	0.59968	2.350000	0.79820	0.600000	0.82982	GCT	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057785.1		+	ENST00000372582.1	Missense_Mutation	SNP	X : 104440202 - 104440202 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	417	50
ATP4A	495	broad.mit.edu	37	19	36054338	36054338	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36054338C>T	ENST00000262623.3	-	2	132	c.104G>A	c.(103-105)gGg>gAg	p.G35E		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	35					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CTTGCCACCCCCGCCACCCGC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	178	176			NA	NA	19		NA											NA				36054338		2203	4300	6503	SO:0001583	missense				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	495	495	3.6.3.10	ATPases / P-type	819	protein-coding gene	gene with protein product	gastric H,K-ATPase alpha subunit, H(+)-K(+)-ATPase alpha subunit, proton pump	137216			NA	1330887	Standard	NM_000704	NM_000704	NA	Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.104G>A	19.37:g.36054338C>T	ENSP00000262623:p.Gly35Glu	NA	O00738	37	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	C	5.058	0.196401	0.09599	.	.	ENSG00000105675	ENST00000262623	D	0.92699	-3.09	4.39	3.35	0.38373	ATPase, P-type, gastric H+/K+-transporter, N-terminal (1);	0.956254	0.08596	N	0.922249	D	0.84147	0.5408	N	0.08118	0	0.09310	N	1	P	0.36010	0.532	B	0.37650	0.255	T	0.74478	-0.3652	10	0.36615	T	0.2	.	10.2725	0.43491	0.0:0.9016:0.0:0.0984	.	35	P20648	ATP4A_HUMAN	E	35	ENSP00000262623:G35E	ENSP00000262623:G35E	G	-	2	0	ATP4A	40746178	0.000000	0.05858	0.016000	0.15963	0.083000	0.17756	0.225000	0.17757	1.078000	0.41014	0.644000	0.83932	GGG	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109470.2		-	ENST00000262623.3	Missense_Mutation	SNP	19 : 36054338 - 36054338 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1994	206
JARID2	3720	broad.mit.edu	37	6	15410493	15410493	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:15410493G>T	ENST00000341776.2	+	3	464	c.220G>T	c.(220-222)Gca>Tca	p.A74S	JARID2_ENST00000397311.3_5'UTR|JARID2_ENST00000541660.1_Missense_Mutation_p.A36S	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	74					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				ATTAGGACCAGCATCAGAACA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													214	178	190			NA	NA	6		NA											NA				15410493		2203	4300	6503	SO:0001583	missense			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083	3720	3720			6196	protein-coding gene	gene with protein product		601594	jumonji (mouse) homolog, Jumonji, AT rich interactive domain 2	JMJ	NA	8894700	Standard	NM_004973	NM_001267040	NA	Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.220G>T	6.37:g.15410493G>T	ENSP00000341280:p.Ala74Ser	NA	A8K9Z6|B7Z5S5|Q5U5L5|Q86X63	37	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.205312	0.58234	.	.	ENSG00000008083	ENST00000341776;ENST00000541660	T;T	0.51574	0.7;1.41	5.48	5.48	0.80851	.	0.272597	0.36482	N	0.002569	T	0.12561	0.0305	N	0.02539	-0.55	0.80722	D	1	P;B	0.35872	0.525;0.001	B;B	0.35182	0.197;0.003	T	0.15780	-1.0425	10	0.15499	T	0.54	-6.656	17.5186	0.87781	0.0:0.0:1.0:0.0	.	36;74	F5H590;Q92833	.;JARD2_HUMAN	S	74;36	ENSP00000341280:A74S;ENSP00000444623:A36S	ENSP00000341280:A74S	A	+	1	0	JARID2	15518472	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.670000	0.61583	2.579000	0.87056	0.655000	0.94253	GCA	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039926.1		+	ENST00000341776.2	Missense_Mutation	SNP	6 : 15410493 - 15410493 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	478	14
MYLK	4638	broad.mit.edu	37	3	123337592	123337592	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123337592C>T	ENST00000578202.1	-	2	330	c.111G>A	c.(109-111)gaG>gaA	p.E37E	MYLK-AS1_ENST00000485162.1_RNA|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000418370.2_Silent_p.E38E|MYLK_ENST00000360772.3_Silent_p.E1747E|MYLK_ENST00000360304.3_Silent_p.E1798E|MYLK_ENST00000359169.1_Silent_p.E1747E|MYLK_ENST00000583087.1_Silent_p.E38E|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000475616.1_Silent_p.E1798E|MYLK_ENST00000346322.5_Silent_p.E1729E|MYLK_ENST00000354792.5_Silent_p.E598E	NM_053031.2	NP_444259.1	Q15746	MYLK_HUMAN	myosin light chain kinase	1798	Ig-like C2-type 1.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAGCAACAGCCTCAAGGAAAG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	106	106			NA	NA	3		NA											NA				123337592		2203	4300	6503	SO:0001819	synonymous_variant			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	4638	4638	2.7.11.18	Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	7590	protein-coding gene	gene with protein product	smooth muscle myosin light chain kinase	600922	myosin, light polypeptide kinase		NA	8575746	Standard	NM_053025	NM_053026	NA	Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000578202.1:c.111G>A	3.37:g.123337592C>T		NA	O95796|O95797|O95798|O95799|Q14844|Q16794|Q5MY99|Q5MYA0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UIT9	37	CCDS58849.1																																																																																			MYLK-019	NOVEL	NAGNAG_splice_site|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444083.1		-	ENST00000578202.1	Silent	SNP	3 : 123337592 - 123337592 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	467	83
MKS1	54903	broad.mit.edu	37	17	56292170	56292170	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56292170G>A	ENST00000313863.6	-	5	448	c.447C>T	c.(445-447)agC>agT	p.S149S	MKS1_ENST00000393119.2_Silent_p.S149S|MKS1_ENST00000337050.7_Silent_p.S149S|MKS1_ENST00000537529.2_Silent_p.S139S|MKS1_ENST00000546108.1_Intron			Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	149					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AAGGCACCTCGCTGGCTGCAG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	46	46			NA	NA	17		NA											NA				56292170		2109	4229	6338	SO:0001819	synonymous_variant			DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143	54903	54903			7121	protein-coding gene	gene with protein product	POC12 centriolar protein homolog (Chlamydomonas)	609883		MKS	NA	7550354, 16415886, 18327255	Standard	NM_017777	NM_017777	NA	Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000313863.6:c.447C>T	17.37:g.56292170G>A		NA	B7WNX4|Q284T0|Q96G13	37		.	.	.	.	.	.	.	.	.	.	G	14.09	2.431037	0.43122	.	.	ENSG00000011143	ENST00000313863	.	.	.	5.74	-11.5	0.00074	.	.	.	.	.	T	0.23370	0.0565	.	.	.	0.28699	N	0.90415	.	.	.	.	.	.	T	0.11372	-1.0590	4	.	.	.	-9.958	8.0798	0.30737	0.6261:0.2194:0.0836:0.0709	.	.	.	.	V	150	.	.	A	-	2	0	MKS1	53647169	0.000000	0.05858	0.032000	0.17829	0.813000	0.45954	-3.171000	0.00573	-2.873000	0.00322	-0.366000	0.07423	GCG	MKS1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000258014.2		-	ENST00000313863.6	Silent	SNP	17 : 56292170 - 56292170 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	155	17
MYO10	4651	broad.mit.edu	37	5	16671030	16671030	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16671030G>T	ENST00000513610.1	-	39	5942	c.5488C>A	c.(5488-5490)Ctt>Att	p.L1830I	MYO10_ENST00000274203.9_Missense_Mutation_p.L1187I|MYO10_ENST00000515803.1_Missense_Mutation_p.L1169I|MYO10_ENST00000427430.2_Missense_Mutation_p.L1187I|MYO10_ENST00000505695.1_Missense_Mutation_p.L1169I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1830	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGGGCAGCAAGAACCTGGAGG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	43	41			NA	NA	5		NA											NA				16671030		2032	4189	6221	SO:0001583	missense			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555	4651	4651		Myosins / Myosin superfamily : Class X, Pleckstrin homology (PH) domain containing	7593	protein-coding gene	gene with protein product		601481			NA	8884266	Standard	NM_012334	NM_012334	NA	Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.5488C>A	5.37:g.16671030G>T	ENSP00000421280:p.Leu1830Ile	NA	A7E2D1|O94893|Q9NYM7|Q9P110|Q9P111|Q9UHF6	37	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939936	0.52972	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14	5.52	5.52	0.82312	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	.	.	.	.	D	0.94411	0.8202	M	0.85859	2.78	0.58432	D	0.999993	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.94752	0.7928	9	0.72032	D	0.01	.	19.4559	0.94889	0.0:0.0:1.0:0.0	.	709;1470;1830	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	I	1830;1169;1187;1169;1187	ENSP00000421280:L1830I;ENSP00000425051:L1169I;ENSP00000274203:L1187I;ENSP00000421170:L1169I;ENSP00000391106:L1187I	ENSP00000274203:L1187I	L	-	1	0	MYO10	16724030	1.000000	0.71417	0.151000	0.22473	0.319000	0.28217	4.901000	0.63259	2.586000	0.87340	0.563000	0.77884	CTT	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366167.1		-	ENST00000513610.1	Missense_Mutation	SNP	5 : 16671030 - 16671030 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	196	31
SATB1	6304	broad.mit.edu	37	3	18457596	18457596	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:18457596C>A	ENST00000417717.2	-	4	1388	c.418G>T	c.(418-420)Gtt>Ttt	p.V140F	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Missense_Mutation_p.V140F|SATB1_ENST00000338745.6_Missense_Mutation_p.V140F|SATB1_ENST00000475083.1_5'UTR	NM_001195470.1	NP_001182399.1	Q01826	SATB1_HUMAN	SATB homeobox 1	140	PDZ-like dimerization domain.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GACAGTGGAACTGGATTCCAC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	96	99			NA	NA	3		NA											NA				18457596		2203	4300	6503	SO:0001583	missense				CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568	6304	6304		Homeoboxes / CUT class	10541	protein-coding gene	gene with protein product		602075	special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)		NA	1505028	Standard	NM_001131010	NM_002971	NA	Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000417717.2:c.418G>T	3.37:g.18457596C>A	ENSP00000399518:p.Val140Phe	NA	B3KXF1|C9JTR6|Q59EQ0	37	CCDS56242.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713023	0.68730	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717;ENST00000440737;ENST00000452260;ENST00000415069	T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.84790	0.5550	L	0.47716	1.5	0.80722	D	1	D;P	0.65815	0.995;0.941	D;P	0.65233	0.933;0.632	D	0.85488	0.1183	10	0.72032	D	0.01	-7.4249	19.7401	0.96223	0.0:1.0:0.0:0.0	.	140;140	Q01826-2;Q01826	.;SATB1_HUMAN	F	140	ENSP00000341024:V140F;ENSP00000399708:V140F;ENSP00000399518:V140F;ENSP00000402982:V140F;ENSP00000406727:V140F;ENSP00000390529:V140F	ENSP00000341024:V140F	V	-	1	0	SATB1	18432600	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.727000	0.93392	0.591000	0.81541	GTT	SATB1-004	KNOWN	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339360.2		-	ENST00000417717.2	Missense_Mutation	SNP	3 : 18457596 - 18457596 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	410	80
GPRC5C	55890	broad.mit.edu	37	17	72435964	72435964	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72435964C>A	ENST00000481232.1	+	2	695	c.184C>A	c.(184-186)Ctg>Atg	p.L62M	GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000392629.2_Missense_Mutation_p.L29M|GPRC5C_ENST00000392627.1_Missense_Mutation_p.L62M			Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	17						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						GCCTCTCTTCCTGTTCCCAGG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	53	55			NA	NA	17		NA											NA				72435964		2203	4300	6503	SO:0001583	missense			AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412	NA	55890		GPCR / Class C : Orphans	13309	protein-coding gene	gene with protein product		605949	G protein-coupled receptor, family C, group 5, member C		NA	10945465	Standard		NM_022036	NA	Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000481232.1:c.184C>A	17.37:g.72435964C>A	ENSP00000462147:p.Leu62Met	NA	B5BUN4|Q2NL85|Q9NZG5	37		.	.	.	.	.	.	.	.	.	.	C	7.074	0.568859	0.13560	.	.	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000262616;ENST00000392629;ENST00000392628	T;T	0.20200	2.09;2.12	5.49	3.36	0.38483	.	0.416385	0.21947	N	0.066782	T	0.33673	0.0871	L	0.59436	1.845	0.09310	N	1	P;P;P;D	0.60160	0.826;0.651;0.763;0.987	B;B;B;P	0.58391	0.259;0.259;0.444;0.838	T	0.06607	-1.0817	10	0.87932	D	0	-2.0659	8.7494	0.34607	0.0:0.7846:0.0:0.2154	.	17;17;29;17	A8MXZ4;Q9NQ84;Q9NQ84-2;Q9BSP0	.;GPC5C_HUMAN;.;.	M	17;62;17;29;17	ENSP00000376405:L29M;ENSP00000376404:L17M	ENSP00000262616:L17M	L	+	1	2	GPRC5C	69947559	0.093000	0.21703	0.426000	0.26672	0.968000	0.65278	1.296000	0.33389	1.143000	0.42306	0.561000	0.74099	CTG	GPRC5C-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000145095.2		+	ENST00000481232.1	Missense_Mutation	SNP	17 : 72435964 - 72435964 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	374	71
APOL1	8542	broad.mit.edu	37	22	36661223	36661223	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36661223C>A	ENST00000319136.4	+	7	656	c.389C>A	c.(388-390)gCt>gAt	p.A130D	APOL1_ENST00000347595.7_5'UTR|APOL1_ENST00000426053.1_Missense_Mutation_p.A96D|APOL1_ENST00000397279.4_Missense_Mutation_p.A114D|APOL1_ENST00000422706.1_Missense_Mutation_p.A114D|APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000397278.3_Missense_Mutation_p.A114D	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	114					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						CTCCGTAAAGCTCTGGACAAC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	72	74			NA	NA	22		NA											NA				36661223		2203	4300	6503	SO:0001583	missense			AF019225	CCDS13925.1, CCDS13926.1, CCDS46702.1	22q13.1	2014-09-17			ENSG00000100342	ENSG00000100342	8542	8542		Apolipoproteins	618	protein-coding gene	gene with protein product		603743		APOL	NA	9325276, 11374903, 16020735	Standard	NM_145343	NM_003661	NA	Approved		uc011amp.2	O14791	OTTHUMG00000030427	ENST00000319136.4:c.389C>A	22.37:g.36661223C>A	ENSP00000317674:p.Ala130Asp	NA	A5PLQ4|O60804|Q5R3P7|Q5R3P8|Q96AB8|Q96PM4|Q9BQ03	37	CCDS13925.1	.	.	.	.	.	.	.	.	.	.	c	11.47	1.648028	0.29336	.	.	ENSG00000100342	ENST00000397278;ENST00000422706;ENST00000426053;ENST00000319136;ENST00000427990;ENST00000397279	T;T;T;T;T;T	0.04406	3.63;3.63;3.63;3.63;3.63;3.63	2.52	-4.21	0.03812	.	1.106010	0.06755	N	0.780721	T	0.13628	0.0330	M	0.75615	2.305	0.09310	N	0.999999	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.998;0.997	T	0.26467	-1.0102	10	0.54805	T	0.06	.	0.0452	0.00010	0.2944:0.2396:0.1985:0.2676	.	96;114;130	E9PF24;O14791;O14791-2	.;APOL1_HUMAN;.	D	114;114;96;130;114;114	ENSP00000380448:A114D;ENSP00000411507:A114D;ENSP00000388477:A96D;ENSP00000317674:A130D;ENSP00000391302:A114D;ENSP00000380449:A114D	ENSP00000317674:A130D	A	+	2	0	APOL1	34991169	0.001000	0.12720	0.000000	0.03702	0.021000	0.10359	-0.397000	0.07269	-0.899000	0.03901	0.194000	0.17425	GCT	APOL1-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075315.5		+	ENST00000319136.4	Missense_Mutation	SNP	22 : 36661223 - 36661223 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	437	80
ADM2	79924	broad.mit.edu	37	22	50921212	50921212	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50921212C>A	ENST00000395738.2	+	2	619	c.327C>A	c.(325-327)ggC>ggA	p.G109G	ADM2_ENST00000362068.2_Missense_Mutation_p.A26D|ADM2_ENST00000395737.1_Silent_p.G109G	NM_001253845.1|NM_024866.5	NP_001240774.1|NP_079142.2	Q7Z4H4	ADM2_HUMAN	adrenomedullin 2	109					positive regulation of angiogenesis	extracellular region	hormone activity			breast(1)|kidney(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGCGAGTGGGCTGTGTGCTGG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													8	10	10			NA	NA	22		NA											NA				50921212		2072	4128	6200	SO:0001819	synonymous_variant			AF529213	CCDS33682.1	22q13.33	2013-02-25			ENSG00000128165	ENSG00000128165	79924	79924		Endogenous ligands	28898	protein-coding gene	gene with protein product		608682			NA	14706825	Standard	NM_024866	NM_024866	NA	Approved	AM2, FLJ21135	uc003blj.3	Q7Z4H4	OTTHUMG00000150202	ENST00000395738.2:c.327C>A	22.37:g.50921212C>A		NA	Q3LFQ0	37	CCDS33682.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.128692	0.56721	.	.	ENSG00000128165	ENST00000362068	.	.	.	4.62	3.61	0.41365	.	.	.	.	.	T	0.46964	0.1420	.	.	.	0.24873	N	0.992271	.	.	.	.	.	.	T	0.40232	-0.9574	5	0.87932	D	0	.	10.2761	0.43510	0.0:0.9014:0.0:0.0986	.	.	.	.	D	26	.	ENSP00000354955:A26D	A	+	2	0	ADM2	49268078	1.000000	0.71417	0.997000	0.53966	0.797000	0.45037	1.381000	0.34362	0.936000	0.37367	0.448000	0.29417	GCT	ADM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316816.1		+	ENST00000395738.2	Silent	SNP	22 : 50921212 - 50921212 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	143	25
PITRM1	10531	broad.mit.edu	37	10	3191914	3191914	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:3191914C>T	ENST00000224949.4	-	16	1804	c.1770G>A	c.(1768-1770)caG>caA	p.Q590Q	PITRM1_ENST00000380989.2_Silent_p.Q590Q|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000451104.2_Silent_p.Q558Q|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380994.1_Silent_p.Q148Q			E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	558					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CATTGGTGGGCTGGGCGCAGT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	119	118			NA	NA	10		NA											NA				3191914		1908	4128	6036	SO:0001819	synonymous_variant			AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959	10531	10531			17663	protein-coding gene	gene with protein product	PreP peptidasome		pitrilysin metalloproteinase 1		NA	1036083, 10470851, 16849325	Standard		NM_014889	NA	Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.1770G>A	10.37:g.3191914C>T		NA		37	CCDS59208.1																																																																																			PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046469.2		-	ENST00000224949.4	Silent	SNP	10 : 3191914 - 3191914 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	598	123
OR51D1	390038	broad.mit.edu	37	11	4661117	4661117	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4661117G>T	ENST00000357605.2	+	1	173	c.97G>T	c.(97-99)Ggg>Tgg	p.G33W		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCCTGGCCTGGGGCCTACCAT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	146	156			NA	NA	11		NA											NA				4661117		2201	4298	6499	SO:0001583	missense			AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428	390038	390038		GPCR / Class A : Olfactory receptors	15193	protein-coding gene	gene with protein product					NA		Standard	NM_001004751	NM_001004751	NA	Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.97G>T	11.37:g.4661117G>T	ENSP00000350222:p.Gly33Trp	NA	B9EIK4	37	CCDS31357.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.277092	0.23307	.	.	ENSG00000197428	ENST00000357605	T	0.00330	8.08	4.84	3.92	0.45320	.	0.150320	0.30989	N	0.008463	T	0.00356	0.0011	N	0.08118	0	0.34857	D	0.742262	D	0.76494	0.999	D	0.71184	0.972	D	0.87192	0.2235	10	0.87932	D	0	.	14.2248	0.65850	0.0:0.1507:0.8493:0.0	.	33	Q8NGF3	O51D1_HUMAN	W	33	ENSP00000350222:G33W	ENSP00000350222:G33W	G	+	1	0	OR51D1	4617693	1.000000	0.71417	0.226000	0.23910	0.003000	0.03518	3.193000	0.50997	1.378000	0.46305	-0.300000	0.09419	GGG	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385956.1		+	ENST00000357605.2	Missense_Mutation	SNP	11 : 4661117 - 4661117 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	626	126
NACA	4666	broad.mit.edu	37	12	57109918	57109918	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57109918G>T	ENST00000550952.1	-	5	1975	c.1937C>A	c.(1936-1938)tCt>tAt	p.S646Y	NACA_ENST00000546392.1_Intron|NACA_ENST00000454682.1_Missense_Mutation_p.S1799Y|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron			Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AAGAGGCAGAGAGACTGGTGG	0.557		NA	T	BCL6	NHL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0													43	41	42			NA	NA	12		NA											NA				57109918		1568	3581	5149	SO:0001583	missense			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531	4666	4666			7629	protein-coding gene	gene with protein product		601234	nascent-polypeptide-associated complex alpha polypeptide		NA	8047162	Standard	NM_005594	NM_001113202	NA	Approved	NACA1	uc001sma.2	E9PAV3		ENST00000550952.1:c.1937C>A	12.37:g.57109918G>T	ENSP00000448035:p.Ser646Tyr	NA	Q3KQV4|Q53A18|Q53G46	37	CCDS44925.2	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580373	0.28180	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.59906	0.23;0.68	3.77	3.77	0.43336	.	.	.	.	.	T	0.54447	0.1859	N	0.08118	0	0.18873	N	0.999983	D;D	0.65815	0.995;0.994	P;P	0.62184	0.887;0.899	T	0.51764	-0.8664	9	0.87932	D	0	.	12.5832	0.56401	0.0:0.0:1.0:0.0	.	1799;646	E9PAV3;F8VU71	.;.	Y	1799;646	ENSP00000403817:S1799Y;ENSP00000448035:S646Y	ENSP00000403817:S1799Y	S	-	2	0	NACA	55396185	0.709000	0.27886	0.918000	0.36340	0.646000	0.38490	1.484000	0.35508	1.928000	0.55862	0.484000	0.47621	TCT	NACA-004	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407275.1		-	ENST00000550952.1	Missense_Mutation	SNP	12 : 57109918 - 57109918 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	176	14
ANKRD13B	124930	broad.mit.edu	37	17	27939445	27939445	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27939445C>T	ENST00000394859.3	+	12	1438	c.1284C>T	c.(1282-1284)aaC>aaT	p.N428N	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	428										cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						ACATCCTCAACGCCCGCATCA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	42	42			NA	NA	17		NA											NA				27939445		2203	4299	6502	SO:0001819	synonymous_variant			AK092673	CCDS11251.1	17q11.2	2013-01-10			ENSG00000198720	ENSG00000198720	124930	124930		Ankyrin repeat domain containing	26363	protein-coding gene	gene with protein product		615124			NA		Standard	NM_152345	NM_152345	NA	Approved	FLJ25555	uc002hei.3	Q86YJ7	OTTHUMG00000132731	ENST00000394859.3:c.1284C>T	17.37:g.27939445C>T		NA	Q8N7S9	37	CCDS11251.1																																																																																			ANKRD13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256077.1		+	ENST00000394859.3	Silent	SNP	17 : 27939445 - 27939445 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	149	14
TRPM3	80036	broad.mit.edu	37	9	73230953	73230953	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:73230953G>T	ENST00000377111.2	-	17	2604	c.2361C>A	c.(2359-2361)agC>agA	p.S787R	TRPM3_ENST00000357533.2_Missense_Mutation_p.S791R|TRPM3_ENST00000358082.3_Missense_Mutation_p.S649R|TRPM3_ENST00000377106.1_Missense_Mutation_p.S659R|TRPM3_ENST00000377110.3_Missense_Mutation_p.S787R|TRPM3_ENST00000396280.5_Missense_Mutation_p.S636R|TRPM3_ENST00000423814.3_Missense_Mutation_p.S814R|TRPM3_ENST00000396292.4_Missense_Mutation_p.S659R|TRPM3_ENST00000408909.2_Missense_Mutation_p.S646R|TRPM3_ENST00000360823.2_Missense_Mutation_p.S649R|TRPM3_ENST00000396285.1_Missense_Mutation_p.S634R|TRPM3_ENST00000377105.1_Missense_Mutation_p.S646R	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	812						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGAACTCCAAGCTGAGAATTG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	92	95			NA	NA	9		NA											NA				73230953		2203	4300	6503	SO:0001583	missense			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067	80036	80036		Voltage-gated ion channels / Transient receptor potential cation channels	17992	protein-coding gene	gene with protein product	melastatin 2	608961			NA	16382100	Standard	NM_206945	NM_206946	NA	Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2361C>A	9.37:g.73230953G>T	ENSP00000366315:p.Ser787Arg	NA	A2A3F6|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.20|11.20	1.569346|1.569346	0.28003|0.28003	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	.|T;T;T;T;T;T;T;T;T;T;T	.|0.63744	.|-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.087739	.|0.85682	.|D	.|0.000000	T|T	0.55561|0.55561	0.1928|0.1928	N|N	0.08118|0.08118	0|0	0.42438|0.42438	D|D	0.992706|0.992706	.|B;B;P;B;B;B;B;P	.|0.40266	.|0.008;0.001;0.565;0.101;0.101;0.404;0.003;0.71	.|B;B;P;B;B;B;B;B	.|0.50490	.|0.026;0.005;0.642;0.122;0.078;0.109;0.015;0.193	T|T	0.52253|0.52253	-0.8600|-0.8600	5|10	.|0.19147	.|T	.|0.46	-23.5504|-23.5504	19.6745|19.6745	0.95926|0.95926	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|787;787;777;791;649;646;759;634	.|Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.|.;.;.;.;.;.;.;.	I|R	636|787;787;659;649;646;791;646;634;659;649;814	.|ENSP00000366315:S787R;ENSP00000366314:S787R;ENSP00000366310:S659R;ENSP00000354066:S649R;ENSP00000366309:S646R;ENSP00000350140:S791R;ENSP00000386127:S646R;ENSP00000379581:S634R;ENSP00000379587:S659R;ENSP00000350791:S649R;ENSP00000389542:S814R	.|ENSP00000350140:S791R	L|S	-|-	1|3	0|2	TRPM3|TRPM3	72420773|72420773	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.250000|2.250000	0.43178|0.43178	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	CTT|AGC	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000214157.5		-	ENST00000377111.2	Missense_Mutation	SNP	9 : 73230953 - 73230953 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	37
ENO1	2023	broad.mit.edu	37	1	8931976	8931976	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8931976T>A	ENST00000234590.4	-	3	274	c.155A>T	c.(154-156)aAt>aTt	p.N52I		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	52					gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AGTCTTATCATTGTCCCGGAG	0.542		NA									OREG0013069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(21;302 608 19946 22210 33560)							NA				0													180	158	166			NA	NA	1		NA											NA				8931976		2203	4300	6503	SO:0001583	missense			BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	2023	2023	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1	NA	9653645, 9691177	Standard	NM_001428	NM_001428	NA	Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.155A>T	1.37:g.8931976T>A	ENSP00000234590:p.Asn52Ile	653	B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q9UCH6|Q9UM55	37	CCDS97.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.704455	0.88924	.	.	ENSG00000074800	ENST00000234590	T	0.31247	1.5	5.87	5.87	0.94306	Enolase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59197	0.2176	M	0.89785	3.06	0.39911	D	0.974039	B;B	0.31256	0.154;0.316	P;P	0.48795	0.59;0.486	T	0.65903	-0.6055	10	0.87932	D	0	-29.3646	15.0982	0.72253	0.0:0.0:0.0:1.0	.	19;52	A4UCS8;P06733	.;ENOA_HUMAN	I	52	ENSP00000234590:N52I	ENSP00000234590:N52I	N	-	2	0	ENO1	8854563	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.174000	0.58256	2.253000	0.74438	0.533000	0.62120	AAT	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000004945.1		-	ENST00000234590.4	Missense_Mutation	SNP	1 : 8931976 - 8931976 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	638	76
TENM3	55714	broad.mit.edu	37	4	183659682	183659682	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:183659682C>T	ENST00000511685.1	+	18	3487	c.3364C>T	c.(3364-3366)Ctg>Ttg	p.L1122L	TENM3_ENST00000406950.2_Silent_p.L1122L|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3	NA											NA						ACATCACGTGCTGGATGTACA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	175	177			NA	NA	4		NA											NA				183659682		1984	4160	6144	SO:0001819	synonymous_variant			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336	55714	55714			29944	protein-coding gene	gene with protein product		610083	odz, odd Oz/ten-m homolog 3 (Drosophila)	ODZ3	NA	10331952, 10625539	Standard		NM_001080477	NA	Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.3364C>T	4.37:g.183659682C>T		NA		37	CCDS47165.1																																																																																			TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361734.1		+	ENST00000511685.1	Silent	SNP	4 : 183659682 - 183659682 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	365	34
HECW2	57520	broad.mit.edu	37	2	197143304	197143304	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197143304G>A	ENST00000409111.1	-	13	3029	c.2015C>T	c.(2014-2016)gCg>gTg	p.A672V	HECW2_ENST00000260983.3_Missense_Mutation_p.A1028V			Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1028					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ATGAACCAGCGCACTTGTGGG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	127	136			NA	NA	2		NA											NA				197143304		2203	4300	6503	SO:0001583	missense			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411	57520	57520			29853	protein-coding gene	gene with protein product					NA	10718198, 12890487	Standard	NM_020760	NM_020760	NA	Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000409111.1:c.2015C>T	2.37:g.197143304G>A	ENSP00000386775:p.Ala672Val	NA	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	37		.	.	.	.	.	.	.	.	.	.	G	10.33	1.320375	0.23994	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	D;D	0.84298	-1.83;-1.83	5.28	5.28	0.74379	.	0.129557	0.53938	D	0.000045	T	0.68943	0.3056	N	0.14661	0.345	0.42479	D	0.992858	P	0.43938	0.822	B	0.30716	0.119	T	0.71922	-0.4446	10	0.28530	T	0.3	.	13.9925	0.64376	0.0:0.0:0.8487:0.1513	.	1028	Q9P2P5	HECW2_HUMAN	V	672;1028	ENSP00000386775:A672V;ENSP00000260983:A1028V	ENSP00000260983:A1028V	A	-	2	0	HECW2	196851549	1.000000	0.71417	0.565000	0.28409	0.083000	0.17756	5.769000	0.68865	2.745000	0.94114	0.655000	0.94253	GCG	HECW2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000335314.2		-	ENST00000409111.1	Missense_Mutation	SNP	2 : 197143304 - 197143304 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	420	23
CHD8	57680	broad.mit.edu	37	14	21869119	21869119	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21869119G>A	ENST00000557364.1	-	22	4548	c.4285C>T	c.(4285-4287)Cgg>Tgg	p.R1429W	CHD8_ENST00000399982.2_Missense_Mutation_p.R1429W|CHD8_ENST00000430710.3_Missense_Mutation_p.R1150W|CHD8_ENST00000555962.1_Intron			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1429					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GAGCGTGGCCGCTCATCATCC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	126	127			NA	NA	14		NA											NA				21869119		1988	4168	6156	SO:0001583	missense			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888	57680	57680			20153	protein-coding gene	gene with protein product		610528	helicase with SNF2 domain 1	HELSNF1	NA	10997877	Standard	NM_020920	NM_020920	NA	Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.4285C>T	14.37:g.21869119G>A	ENSP00000451601:p.Arg1429Trp	NA	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	37	CCDS53885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.72|15.72	2.915889|2.915889	0.52546|0.52546	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000555935|ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	.|D;D;D	.|0.86097	.|-2.07;-2.07;-2.07	5.04|5.04	4.13|4.13	0.48395|0.48395	.|.	.|0.076903	.|0.56097	.|D	.|0.000033	D|D	0.85708|0.85708	0.5759|0.5759	N|N	0.22421|0.22421	0.69|0.69	0.48975|0.48975	D|D	0.999736|0.999736	.|D;D	.|0.76494	.|0.999;0.999	.|P;D	.|0.71184	.|0.872;0.972	D|D	0.86944|0.86944	0.2081|0.2081	5|10	.|0.87932	.|D	.|0	-12.8282|-12.8282	11.6568|11.6568	0.51324|0.51324	0.0:0.0:0.6781:0.3219|0.0:0.0:0.6781:0.3219	.|.	.|1429;1150	.|Q9HCK8;Q9HCK8-2	.|CHD8_HUMAN;.	V|W	654|1150;1429;1149;1429	.|ENSP00000406288:R1150W;ENSP00000382863:R1429W;ENSP00000451601:R1429W	.|ENSP00000262707:R1149W	A|R	-|-	2|1	0|2	CHD8|CHD8	20938959|20938959	0.907000|0.907000	0.30839|0.30839	0.999000|0.999000	0.59377|0.59377	0.670000|0.670000	0.39368|0.39368	3.463000|3.463000	0.53050|0.53050	1.312000|1.312000	0.45043|0.45043	0.655000|0.655000	0.94253|0.94253	GCG|CGG	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410436.1		-	ENST00000557364.1	Missense_Mutation	SNP	14 : 21869119 - 21869119 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	385	79
ACACA	31	broad.mit.edu	37	17	35446008	35446008	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35446008G>T	ENST00000353139.5	-	55	7374	c.6893C>A	c.(6892-6894)gCt>gAt	p.A2298D	ACACA_ENST00000361253.5_Splice_Site_p.A387D|ACACA_ENST00000394406.2_Splice_Site_p.A2261D|ACACA_ENST00000335166.5_Splice_Site_p.A2183D|ACACA_ENST00000360679.3_Splice_Site_p.A2203D	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2261					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCAAACATAAGCCTGCAAACA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)							NA				0													138	131	133			NA	NA	17		NA											NA				35446008		2203	4300	6503	SO:0001630	splice_region_variant			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	31	31	6.4.1.2		84	protein-coding gene	gene with protein product	acetyl-CoA carboxylase 1	200350	acetyl-Coenzyme A carboxylase alpha	ACAC, ACC	NA		Standard	NM_198836	NM_198837	NA	Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000353139.5:c.6892-1C>A	17.37:g.35446008G>T		NA	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	37	CCDS42302.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771870	0.69992	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.57110	0.2031	L	0.46157	1.445	0.80722	D	1	P;P;D;P;B	0.53312	0.948;0.9;0.959;0.738;0.164	P;P;P;B;B	0.54706	0.593;0.743;0.759;0.252;0.115	T	0.43163	-0.9408	10	0.23891	T	0.37	-12.9246	20.2033	0.98269	0.0:0.0:1.0:0.0	.	299;960;2298;2261;2203	B4DIG6;F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;.;ACACA_HUMAN;.	D	2298;2203;2261;2285;2183;960;387	ENSP00000344789:A2298D;ENSP00000353898:A2203D;ENSP00000377928:A2261D;ENSP00000335323:A2183D;ENSP00000354565:A387D	ENSP00000335323:A2183D	A	-	2	0	ACACA	32520121	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	6.724000	0.74747	2.779000	0.95612	0.655000	0.94253	GCT	ACACA-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256689.1	Missense_Mutation	-	ENST00000353139.5	Splice_Site	SNP	17 : 35446008 - 35446008 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	801	156
CTR9	9646	broad.mit.edu	37	11	10789414	10789414	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10789414C>A	ENST00000361367.2	+	14	2174	c.1748C>A	c.(1747-1749)cCt>cAt	p.P583H		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	583					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GAATGGGGTCCTGGGCAGAAG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													246	249	248			NA	NA	11		NA											NA				10789414		2201	4294	6495	SO:0001583	missense			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730	9646	9646		Tetratricopeptide (TTC) repeat domain containing	16850	protein-coding gene	gene with protein product		609366	SH2 domain binding protein 1 (tetratricopeptide repeat containing), Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	SH2BP1	NA	8590280, 8636124	Standard	NM_014633	NM_014633	NA	Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.1748C>A	11.37:g.10789414C>A	ENSP00000355013:p.Pro583His	NA	D3DQV8|Q15015	37	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807769	0.70797	.	.	ENSG00000198730	ENST00000361367	T	0.17528	2.27	5.56	5.56	0.83823	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.20740	0.0499	L	0.55481	1.735	0.80722	D	1	P	0.45569	0.861	B	0.38500	0.275	T	0.01416	-1.1360	10	0.41790	T	0.15	-11.4677	19.5083	0.95130	0.0:1.0:0.0:0.0	.	583	Q6PD62	CTR9_HUMAN	H	583	ENSP00000355013:P583H	ENSP00000355013:P583H	P	+	2	0	CTR9	10745990	1.000000	0.71417	1.000000	0.80357	0.522000	0.34438	7.735000	0.84939	2.620000	0.88729	0.467000	0.42956	CCT	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386215.1		+	ENST00000361367.2	Missense_Mutation	SNP	11 : 10789414 - 10789414 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1400	279
NDUFV3	4731	broad.mit.edu	37	21	44324264	44324264	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44324264A>G	ENST00000354250.2	+	3	1211	c.1142A>G	c.(1141-1143)gAg>gGg	p.E381G	NDUFV3_ENST00000340344.4_Intron|NDUFV3_ENST00000460259.1_3'UTR	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	0					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	AGCAATTTGGAGACAGTTCCT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	65	67			NA	NA	21		NA											NA				44324264		2203	4300	6503	SO:0001583	missense				CCDS33572.1, CCDS33573.1	21q22.3	2011-07-04	2002-08-29		ENSG00000160194	ENSG00000160194	4731	4731	1.6.5.3	Mitochondrial respiratory chain complex / Complex I	7719	protein-coding gene	gene with protein product	complex I 10kDa subunit	602184	NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)		NA	9344673	Standard		NM_021075	NA	Approved	CI-10k	uc002zcm.3	P56181	OTTHUMG00000086823	ENST00000354250.2:c.1142A>G	21.37:g.44324264A>G	ENSP00000346196:p.Glu381Gly	NA	A8K0M1|Q6FGD3|Q8WU60|Q9HCR5	37	CCDS33572.1	.	.	.	.	.	.	.	.	.	.	A	11.73	1.726345	0.30593	.	.	ENSG00000160194	ENST00000354250	.	.	.	3.98	2.8	0.32819	.	0.616685	0.14368	N	0.323983	T	0.21631	0.0521	N	0.19112	0.55	0.09310	N	0.999997	B	0.32160	0.358	B	0.29785	0.107	T	0.15009	-1.0452	9	0.66056	D	0.02	-3.5623	6.7624	0.23548	0.8858:0.0:0.1142:0.0	.	381	P56181-2	.	G	381	.	ENSP00000346196:E381G	E	+	2	0	NDUFV3	43197333	0.000000	0.05858	0.031000	0.17742	0.058000	0.15608	0.493000	0.22451	0.641000	0.30601	0.459000	0.35465	GAG	NDUFV3-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195447.1		+	ENST00000354250.2	Missense_Mutation	SNP	21 : 44324264 - 44324264 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	242	49
CHGA	1113	broad.mit.edu	37	14	93390551	93390551	+	Silent	SNP	G	G	A	rs9658640		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93390551G>A	ENST00000334654.4	+	2	238	c.54G>A	c.(52-54)gcG>gcA	p.A18A	CHGA_ENST00000553866.1_Intron|CHGA_ENST00000216492.5_Silent_p.A18A			P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	18					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		CAGTCACTGCGCTCCCTGTGA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)							NA				0													50	49	49			NA	NA	14		NA											NA				93390551		2203	4300	6503	SO:0001819	synonymous_variant				CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604	1113	1113			1929	protein-coding gene	gene with protein product	vasostatin, pancreastatin, parastatin	118910			NA	3403545	Standard	NM_001275	NM_001275	NA	Approved		uc001ybc.4	P10645		ENST00000334654.4:c.54G>A	14.37:g.93390551G>A		NA	B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	37																																																																																				CHGA-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000412414.1		+	ENST00000334654.4	Silent	SNP	14 : 93390551 - 93390551 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	118	21
PTBP2	58155	broad.mit.edu	37	1	97217025	97217025	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:97217025G>A	ENST00000609116.1	+	3	166	c.84G>A	c.(82-84)ccG>ccA	p.P28P	PTBP2_ENST00000426398.2_Silent_p.P28P|PTBP2_ENST00000370198.1_Silent_p.P28P|PTBP2_ENST00000482253.1_Intron|PTBP2_ENST00000370197.1_Silent_p.P28P|PTBP2_ENST00000394184.3_Silent_p.P39P|PTBP2_ENST00000541987.1_5'UTR			Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	NA							nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		TCAGTAGTCCGAACTCTAATA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													228	217	221			NA	NA	1		NA											NA				97217025		2203	4300	6503	SO:0001819	synonymous_variant			AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569	58155	58155		RNA binding motif (RRM) containing	17662	protein-coding gene	gene with protein product		608449			NA	11003644	Standard		XM_005271084	NA	Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000609116.1:c.84G>A	1.37:g.97217025G>A		NA	Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	37																																																																																				PTBP2-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000029452.2		+	ENST00000609116.1	Silent	SNP	1 : 97217025 - 97217025 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	986	207
PCDHGA9	56107	broad.mit.edu	37	5	140784497	140784497	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140784497C>T	ENST00000573521.1	+	1	1978	c.1978C>T	c.(1978-1980)Ctc>Ttc	p.L660F	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1			protocadherin gamma subfamily A, 9	NA										endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGTCACGCTCACAGTAGC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	64	61			NA	NA	5		NA											NA				140784497		2187	4293	6480	SO:0001583	missense			AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26					56107	56107		Cadherins / Protocadherins : Clustered	8707	other	protocadherin		606296			NA	10380929	Standard	NM_018921	NM_018921	NA	Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.1978C>T	5.37:g.140784497C>T	ENSP00000460274:p.Leu660Phe	NA		37	CCDS58981.1																																																																																			PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437105.1		+	ENST00000573521.1	Missense_Mutation	SNP	5 : 140784497 - 140784497 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	398	80
ZNF783	100289678	broad.mit.edu	37	7	148979385	148979385	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148979385G>A	ENST00000434415.1	+	6	1755	c.1592G>A	c.(1591-1593)cGc>cAc	p.R531H	ZNF783_ENST00000489518.1_Intron	NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	531					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			GCCCCCGCCCGCCACGGGAGC	0.731		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													4	5	5			NA	NA	7		NA											NA				148979385		1317	3048	4365	SO:0001583	missense			AK131504	CCDS56519.1	7q36.1	2013-01-08	2008-05-28		ENSG00000204946	ENSG00000204946	100289678	100289678		Zinc fingers, C2H2-type, -	27222	protein-coding gene	gene with protein product					NA	8619474, 9110174	Standard	NM_001195220	NM_001195220	NA	Approved	DKFZp667J212	uc011kuo.2	Q6ZMS7	OTTHUMG00000158969	ENST00000434415.1:c.1592G>A	7.37:g.148979385G>A	ENSP00000410890:p.Arg531His	NA		37	CCDS56519.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098918	0.37048	.	.	ENSG00000204946	ENST00000434415	T	0.05996	3.36	4.52	-4.33	0.03677	.	.	.	.	.	T	0.03053	0.0090	N	0.08118	0	0.09310	N	0.999998	.	.	.	.	.	.	T	0.42949	-0.9421	7	0.87932	D	0	.	3.8021	0.08763	0.3719:0.0:0.176:0.4522	.	.	.	.	H	531	ENSP00000410890:R531H	ENSP00000410890:R531H	R	+	2	0	ZNF783	148610318	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.792000	0.00766	-0.974000	0.03550	-0.346000	0.07831	CGC	ZNF783-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352715.1		+	ENST00000434415.1	Missense_Mutation	SNP	7 : 148979385 - 148979385 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	65	19
ZNF708	7562	broad.mit.edu	37	19	21476283	21476283	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21476283C>T	ENST00000356929.3	-	4	1682	c.1485G>A	c.(1483-1485)aaG>aaA	p.K495K		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	495					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TATGAATTATCTTATGTGTAG	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	47	45			NA	NA	19		NA											NA				21476283		2196	4295	6491	SO:0001819	synonymous_variant			X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141	7562	7562		Zinc fingers, C2H2-type, -	12945	protein-coding gene	gene with protein product			zinc finger protein 15-like 1 (KOX 8), zinc finger protein 708, zinc finger protein 708 (KOX8)	ZNF15, ZNF15L1	NA	2014798	Standard	NM_021269	NM_021269	NA	Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.1485G>A	19.37:g.21476283C>T		NA	Q6ZMR0	37	CCDS32980.1																																																																																			ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463953.1		-	ENST00000356929.3	Silent	SNP	19 : 21476283 - 21476283 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	81
SLC34A2	10568	broad.mit.edu	37	4	25677760	25677760	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25677760G>A	ENST00000382051.3	+	13	1512	c.1462G>A	c.(1462-1464)Gcc>Acc	p.A488T	SLC34A2_ENST00000504570.1_Missense_Mutation_p.A487T|SLC34A2_ENST00000503434.1_Missense_Mutation_p.A487T	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	488					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.A488S(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GTTGCAGATCGCCCTGTGCCA	0.602		NA	T	ROS1	NSCLC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		4	4p15.2	10568	solute carrier family 34 (sodium phosphate), member 2		E	1	Substitution - Missense(1)	large_intestine(1)											86	69	75			NA	NA	4		NA											NA				25677760		2203	4300	6503	SO:0001583	missense			AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765	10568	10568		Solute carriers	11020	protein-coding gene	gene with protein product		604217	solute carrier family 34 (sodium phosphate), member 2		NA	10329428, 10610722	Standard	NM_006424	NM_006424	NA	Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1462G>A	4.37:g.25677760G>A	ENSP00000371483:p.Ala488Thr	NA	A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	37	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389047	0.82902	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	D;D;D	0.87179	-2.22;-2.22;-2.22	5.04	4.13	0.48395	.	0.106321	0.64402	D	0.000005	D	0.89396	0.6703	M	0.83483	2.645	0.80722	D	1	P;P	0.49447	0.924;0.869	B;P	0.46208	0.311;0.507	D	0.91155	0.4956	10	0.62326	D	0.03	-35.5842	14.5209	0.67849	0.0:0.0:0.8528:0.1472	.	487;488	O95436-2;O95436	.;NPT2B_HUMAN	T	487;488;487	ENSP00000425501:A487T;ENSP00000371483:A488T;ENSP00000423021:A487T	ENSP00000371483:A488T	A	+	1	0	SLC34A2	25286858	1.000000	0.71417	0.996000	0.52242	0.811000	0.45836	6.559000	0.73946	2.504000	0.84457	0.561000	0.74099	GCC	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214990.1		+	ENST00000382051.3	Missense_Mutation	SNP	4 : 25677760 - 25677760 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	248	40
RPF2	84154	broad.mit.edu	37	6	111310254	111310254	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111310254T>C	ENST00000441448.2	+	3	272	c.180T>C	c.(178-180)ggT>ggC	p.G60G		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	60	Brix.		G -> S (in dbSNP:rs6909298).			nucleolus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						AACCATACGGTGTACTATATA	0.249		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								T		0,4372		0,0,2186	41	44	43		180	-9.8	0	6		43	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous	RPF2	NM_032194.1		0,1,6479	CC,CT,TT	NA	0.0116,0.0,0.0077		60/307	111310254	1,12959	2186	4294	6480	SO:0001819	synonymous_variant			AK024740	CCDS5088.1	6q21	2009-09-25	2009-09-25	2009-09-25	ENSG00000197498	ENSG00000197498	84154	84154			20870	protein-coding gene	gene with protein product	ribosomal processing factor 2 homolog (S. cerevisiae)		brix domain containing 1	BXDC1	NA	12048200	Standard	NM_032194	NM_032194	NA	Approved	FLJ21087, bA397G5.4	uc003pun.3	Q9H7B2	OTTHUMG00000015368	ENST00000441448.2:c.180T>C	6.37:g.111310254T>C		NA	Q5VXN1|Q8N4A1	37	CCDS5088.1																																																																																			RPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041813.2		+	ENST00000441448.2	Silent	SNP	6 : 111310254 - 111310254 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	95	18
QDPR	5860	broad.mit.edu	37	4	17510920	17510920	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:17510920C>T	ENST00000281243.5	-	2	351	c.172G>A	c.(172-174)Gac>Aac	p.D58N	QDPR_ENST00000513615.1_Missense_Mutation_p.D58N|QDPR_ENST00000508623.1_Missense_Mutation_p.D58N|QDPR_ENST00000428702.2_Intron	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	58					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)	GTGAACGAGTCTGTCATTTTA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	103	109			NA	NA	4		NA											NA				17510920		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.172G>A	4.37:g.17510920C>T	ENSP00000281243:p.Asp58Asn	NA	A8K158|Q53F52|Q9H3M5	37	CCDS3421.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992680	0.54041	.	.	ENSG00000151552	ENST00000513615;ENST00000281243;ENST00000508623	D;D;D	0.95949	-3.46;-3.86;-3.46	5.52	5.52	0.82312	NAD(P)-binding domain (1);	0.172007	0.49916	D	0.000135	D	0.93122	0.7810	L	0.45581	1.43	0.58432	D	0.999999	B	0.10296	0.003	B	0.13407	0.009	D	0.89649	0.3868	10	0.17832	T	0.49	-14.759	19.0666	0.93114	0.0:1.0:0.0:0.0	.	58	P09417	DHPR_HUMAN	N	58	ENSP00000422759:D58N;ENSP00000281243:D58N;ENSP00000426377:D58N	ENSP00000281243:D58N	D	-	1	0	QDPR	17120018	1.000000	0.71417	0.914000	0.36105	0.034000	0.12701	6.759000	0.74934	2.585000	0.87301	0.655000	0.94253	GAC	QDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250372.1		-	ENST00000281243.5	Missense_Mutation	SNP	4 : 17510920 - 17510920 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	239	41
CNGA2	1260	broad.mit.edu	37	X	150911635	150911635	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:150911635G>A	ENST00000329903.4	+	6	693	c.660G>A	c.(658-660)caG>caA	p.Q220Q		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	220					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					ACACCCTGCAGTTCAAGCTGG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	100	113			NA	NA	X		NA											NA				150911635		2203	4300	6503	SO:0001819	synonymous_variant			S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862	1260	1260		Voltage-gated ion channels / Cyclic nucleotide-regulated channels	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA	NA	7532814, 16382102	Standard	NM_005140	NM_005140	NA	Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.660G>A	X.37:g.150911635G>A		NA	A0AVD0	37	CCDS14701.1																																																																																			CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060888.1		+	ENST00000329903.4	Silent	SNP	X : 150911635 - 150911635 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	96
CTD-3222D19.2	0	broad.mit.edu	37	19	16687637	16687637	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16687637G>A	ENST00000409035.1	-	4	1288	c.1028C>T	c.(1027-1029)gCg>gTg	p.A343V	MED26_ENST00000263390.3_Missense_Mutation_p.A335V						NA											NA						TGGGCTTTCCGCACTGGGCAG	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													8	10	9			NA	NA	19		NA											NA				16687637		2137	4180	6317	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000409035.1:c.1028C>T	19.37:g.16687637G>A	ENSP00000386951:p.Ala343Val	NA		37		.	.	.	.	.	.	.	.	.	.	G	0.138	-1.105413	0.01828	.	.	ENSG00000105085	ENST00000263390	.	.	.	4.71	2.07	0.26955	.	0.970172	0.08544	N	0.929988	T	0.28995	0.0720	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.22173	-1.0224	9	0.42905	T	0.14	-1.9742	9.9712	0.41754	0.0912:0.1435:0.7654:0.0	.	335	O95402	MED26_HUMAN	V	335	.	ENSP00000263390:A335V	A	-	2	0	MED26	16548637	0.002000	0.14202	0.001000	0.08648	0.011000	0.07611	1.407000	0.34657	0.944000	0.37579	0.478000	0.44815	GCG	CTD-3222D19.2-001	KNOWN	basic|appris_principal|readthrough_transcript|exp_conf	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000461092.1		-	ENST00000409035.1	Missense_Mutation	SNP	19 : 16687637 - 16687637 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	160	40
SACS	26278	broad.mit.edu	37	13	23910147	23910147	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23910147C>A	ENST00000382292.3	-	9	8141	c.7868G>T	c.(7867-7869)gGa>gTa	p.G2623V	SACS_ENST00000402364.1_Missense_Mutation_p.G1873V|SACS_ENST00000382298.3_Missense_Mutation_p.G2623V			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2623					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GAATCCTATTCCATACTGTCC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	110	109			NA	NA	13		NA											NA				23910147		2203	4300	6503	SO:0001583	missense			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835	26278	26278		Heat shock proteins / DNAJ (HSP40)	10519	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 138	604490	spastic ataxia of Charlevoix-Saguenay (sacsin)		NA	10610707, 15057823, 21726565	Standard	NM_014363	NM_001278055	NA	Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.7868G>T	13.37:g.23910147C>A	ENSP00000371729:p.Gly2623Val	NA	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943189	0.73672	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.99818	-6.92;-6.92;-6.92	5.5	5.5	0.81552	ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.99849	0.9930	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96931	0.9681	10	0.87932	D	0	.	19.3858	0.94555	0.0:1.0:0.0:0.0	.	2623	Q9NZJ4	SACS_HUMAN	V	2623;1873;2623	ENSP00000371729:G2623V;ENSP00000385844:G1873V;ENSP00000371735:G2623V	ENSP00000371729:G2623V	G	-	2	0	SACS	22808147	1.000000	0.71417	0.969000	0.41365	0.979000	0.70002	7.487000	0.81328	2.590000	0.87494	0.462000	0.41574	GGA	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044148.3		-	ENST00000382292.3	Missense_Mutation	SNP	13 : 23910147 - 23910147 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	494	83
CHRNA9	55584	broad.mit.edu	37	4	40351187	40351187	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40351187C>T	ENST00000310169.2	+	4	793	c.654C>T	c.(652-654)ggC>ggT	p.G218G		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	218					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	TCTCCTATGGCTGCTGCTCTG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(115;1297 1602 22235 25158 43327)							NA				0													267	244	252			NA	NA	4		NA											NA				40351187		2203	4300	6503	SO:0001819	synonymous_variant			AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343	55584	55584		Cholinergic receptors, Ligand-gated ion channels / Acetylcholine receptors, nicotinic	14079	protein-coding gene	gene with protein product	acetylcholine receptor, nicotinic, alpha 9 (neuronal)	605116	cholinergic receptor, nicotinic, alpha polypeptide 9		NA		Standard		NM_017581	NA	Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.654C>T	4.37:g.40351187C>T		NA	Q14CY7|Q4W5A2|Q9NYV2	37	CCDS3459.1																																																																																			CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216822.1		+	ENST00000310169.2	Silent	SNP	4 : 40351187 - 40351187 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1698	306
NAA38	84316	broad.mit.edu	37	7	117828431	117828431	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117828431G>T	ENST00000424702.1	+	3	252	c.172G>T	c.(172-174)Gga>Tga	p.G58*	NAA38_ENST00000249299.2_Nonsense_Mutation_p.G58*|NAA38_ENST00000422760.1_Nonsense_Mutation_p.G37*			O95777	NAA38_HUMAN	N(alpha)-acetyltransferase 38, NatC auxiliary subunit	58					nuclear mRNA splicing, via spliceosome	nucleus|ribonucleoprotein complex	protein binding|U6 snRNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						AGTGGTACTAGGATTATACAT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	85	85			NA	NA	7		NA											NA				117828431		2203	4300	6503	SO:0001587	stop_gained				CCDS11122.1	17p13.1	2014-01-21	2014-01-21	2014-01-21		ENSG00000183011	84316	84316		N(alpha)-acetyltransferase subunits	28212	protein-coding gene	gene with protein product			LSM domain containing 1	LSMD1	NA	16484612, 19398576	Standard	NM_032356	NM_032356	NA	Approved	MGC14151, PFAAP2	uc002gja.3	Q9BRA0		ENST00000424702.1:c.172G>T	7.37:g.117828431G>T	ENSP00000395263:p.Gly58*	NA		37		.	.	.	.	.	.	.	.	.	.	G	22.3	4.274682	0.80580	.	.	ENSG00000128534	ENST00000249299;ENST00000424702;ENST00000422760;ENST00000411938	.	.	.	5.84	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-21.22	14.8076	0.69968	0.0688:0.0:0.9312:0.0	.	.	.	.	X	58;58;37;69	.	ENSP00000249299:G58X	G	+	1	0	NAA38	117615667	1.000000	0.71417	0.167000	0.22817	0.953000	0.61014	9.234000	0.95347	1.480000	0.48289	0.650000	0.86243	GGA	NAA38-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000346775.1		+	ENST00000424702.1	Nonsense_Mutation	SNP	7 : 117828431 - 117828431 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	316	52
SCAP	22937	broad.mit.edu	37	3	47460252	47460252	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47460252G>A	ENST00000265565.5	-	14	2434	c.2022C>T	c.(2020-2022)gaC>gaT	p.D674D	SCAP_ENST00000441517.2_Silent_p.D419D|SCAP_ENST00000545718.1_Silent_p.D282D	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	674					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CACTGCGGCCGTCCTGAGGGT	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(149;978 1908 29304 37806 46700)							NA				0								G		1,4395		0,1,2197	16	18	17		2022	-2.7	0.4	3		17	0,8598		0,0,4299	no	coding-synonymous	SCAP	NM_012235.2		0,1,6496	AA,AG,GG	NA	0.0,0.0227,0.0077		674/1280	47460252	1,12993	2198	4299	6497	SO:0001819	synonymous_variant			BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650	22937	22937		WD repeat domain containing	30634	protein-coding gene	gene with protein product	SREBP cleavage activating protein	601510			NA	8898195, 8724849, 10570913	Standard	NM_012235	XM_005264967	NA	Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.2022C>T	3.37:g.47460252G>A		NA	Q8N2E0|Q8WUA1	37	CCDS2755.2																																																																																			SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000246872.2		-	ENST00000265565.5	Silent	SNP	3 : 47460252 - 47460252 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	103	12
ABCC2	1244	broad.mit.edu	37	10	101604222	101604222	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101604222G>T	ENST00000370449.4	+	28	4100	c.3987G>T	c.(3985-3987)aaG>aaT	p.K1329N		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1329	ABC transporter 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GCATGGAGAAGGTAGGTGGAG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	114	119			NA	NA	10		NA											NA				101604222		2203	4300	6503	SO:0001630	splice_region_variant			U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839	1244	1244		ATP binding cassette transporters / subfamily C	53	protein-coding gene	gene with protein product		601107	canalicular multispecific organic anion transporter 1	CMOAT	NA	8797578, 9284939	Standard	NM_000392	XM_006717630	NA	Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.3987+1G>T	10.37:g.101604222G>T		NA	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	37	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714854	0.89112	.	.	ENSG00000023839	ENST00000370449	D	0.94232	-3.38	5.64	4.74	0.60224	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.96476	0.8850	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.96924	0.9676	10	0.87932	D	0	-0.1001	14.5275	0.67900	0.0701:0.0:0.9299:0.0	.	1329	Q92887	MRP2_HUMAN	N	1329	ENSP00000359478:K1329N	ENSP00000359478:K1329N	K	+	3	2	ABCC2	101594212	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	6.543000	0.73874	1.398000	0.46701	0.655000	0.94253	AAG	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049825.1	Missense_Mutation	+	ENST00000370449.4	Splice_Site	SNP	10 : 101604222 - 101604222 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	534	95
LPA	4018	broad.mit.edu	37	6	160953597	160953597	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160953597G>A	ENST00000316300.5	-	38	5971	c.5927C>T	c.(5926-5928)gCt>gTt	p.A1976V	LPA_ENST00000447678.1_Missense_Mutation_p.A1976V			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4484	Kringle 18.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CAAATGCTCAGCACAAATATA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	79	78			NA	NA	6		NA											NA				160953597		2149	4279	6428	SO:0001583	missense			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670	4018	4018			6667	protein-coding gene	gene with protein product		152200		LP	NA	3670400	Standard	NM_005577	NM_005577	NA	Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.5927C>T	6.37:g.160953597G>A	ENSP00000321334:p.Ala1976Val	NA	Q5VTD7|Q9UD88	37	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	14.27	2.486295	0.44147	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.91124	-2.79;-2.79	1.93	1.93	0.25924	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.93602	0.7957	M	0.83852	2.665	0.51012	D	0.999902	D	0.89917	1.0	D	0.85130	0.997	D	0.93468	0.6816	9	0.62326	D	0.03	.	11.4209	0.49980	0.0:0.0:1.0:0.0	.	4484	P08519	APOA_HUMAN	V	1976	ENSP00000321334:A1976V;ENSP00000395608:A1976V	ENSP00000321334:A1976V	A	-	2	0	LPA	160873587	1.000000	0.71417	0.075000	0.20258	0.024000	0.10985	7.310000	0.78947	1.412000	0.46977	0.184000	0.17185	GCT	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042957.1		-	ENST00000316300.5	Missense_Mutation	SNP	6 : 160953597 - 160953597 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	325	36
PAICS	10606	broad.mit.edu	37	4	57325556	57325556	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57325556T>C	ENST00000514888.1	+	10	1369	c.854T>C	c.(853-855)gTa>gCa	p.V285A	PAICS_ENST00000264221.2_Missense_Mutation_p.V377A|PAICS_ENST00000399688.3_Missense_Mutation_p.V384A|PAICS_ENST00000512576.1_Missense_Mutation_p.V377A			P22234	PUR6_HUMAN	phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase	377	AIR carboxylase.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|identical protein binding|phosphoribosylaminoimidazole carboxylase activity|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity			endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5	Glioma(25;0.08)|all_neural(26;0.101)				L-Aspartic Acid(DB00128)	TGTTCAACCGTACTTTCTCCA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(53;429 1144 8755 40726)							NA				0													71	64	66			NA	NA	4		NA											NA				57325556		1871	4110	5981	SO:0001583	missense			X53793	CCDS47060.1, CCDS47061.1	4q12	2012-07-13			ENSG00000128050	ENSG00000128050	10606	10606	4.1.1.21, 6.3.2.6		8587	protein-coding gene	gene with protein product		172439		PAIS	NA	2253271, 8106516	Standard	NM_006452	NM_006452	NA	Approved	ADE2H1, AIRC	uc003hbt.1	P22234	OTTHUMG00000160957	ENST00000514888.1:c.854T>C	4.37:g.57325556T>C	ENSP00000424907:p.Val285Ala	NA	E9PDH9|Q68CQ5	37		.	.	.	.	.	.	.	.	.	.	T	14.37	2.515929	0.44763	.	.	ENSG00000128050	ENST00000514888;ENST00000264221;ENST00000505164;ENST00000399688;ENST00000512576	T;T;T;T;T	0.55413	0.52;0.55;0.56;0.53;0.55	5.05	5.05	0.67936	Phosphoribosylaminoimidazole carboxylase, core (4);	0.319515	0.37304	N	0.002152	T	0.53932	0.1827	M	0.77313	2.365	0.29385	N	0.863062	B;B;B	0.17038	0.02;0.009;0.02	B;B;B	0.27380	0.079;0.025;0.079	T	0.53795	-0.8388	10	0.36615	T	0.2	-11.3974	9.9633	0.41710	0.0:0.0867:0.0:0.9133	.	377;384;377	E9PBS1;P22234-2;P22234	.;.;PUR6_HUMAN	A	285;377;377;384;377	ENSP00000424907:V285A;ENSP00000264221:V377A;ENSP00000424053:V377A;ENSP00000382595:V384A;ENSP00000421096:V377A	ENSP00000264221:V377A	V	+	2	0	PAICS	57020313	0.966000	0.33281	0.990000	0.47175	0.988000	0.76386	5.608000	0.67654	2.036000	0.60181	0.477000	0.44152	GTA	PAICS-002	NOVEL	alternative_5_UTR|basic	protein_coding	NA	protein_coding	OTTHUMT00000363132.2		+	ENST00000514888.1	Missense_Mutation	SNP	4 : 57325556 - 57325556 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	148	21
FAT2	2196	broad.mit.edu	37	5	150887020	150887020	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150887020C>T	ENST00000261800.5	-	22	12224	c.12212G>A	c.(12211-12213)cGc>cAc	p.R4071H		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4071					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTGCAACGGCGGCAGTAGAA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	70	69			NA	NA	5		NA											NA				150887020		2203	4300	6503	SO:0001583	missense			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570	2196	2196		Cadherins / Cadherin-related	3596	protein-coding gene	gene with protein product	cadherin-related family member 9	604269	FAT tumor suppressor (Drosophila) homolog 2, FAT tumor suppressor homolog 2 (Drosophila)		NA	9693030	Standard	NM_001447	NM_001447	NA	Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.12212G>A	5.37:g.150887020C>T	ENSP00000261800:p.Arg4071His	NA	O75091|Q9NSR7	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.513696	0.44763	.	.	ENSG00000086570	ENST00000261800	T	0.74002	-0.8	5.6	4.54	0.55810	Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.64402	D	0.000020	T	0.63510	0.2517	L	0.39147	1.195	0.39358	D	0.965872	B;B	0.19935	0.032;0.04	B;B	0.08055	0.003;0.003	T	0.59397	-0.7462	10	0.23891	T	0.37	.	12.5214	0.56060	0.0:0.863:0.0:0.137	.	4071;1176	Q9NYQ8;E9PDJ8	FAT2_HUMAN;.	H	4071	ENSP00000261800:R4071H	ENSP00000261800:R4071H	R	-	2	0	FAT2	150867213	0.991000	0.36638	1.000000	0.80357	0.991000	0.79684	0.285000	0.18883	2.636000	0.89361	0.655000	0.94253	CGC	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252434.1		-	ENST00000261800.5	Missense_Mutation	SNP	5 : 150887020 - 150887020 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	416	80
UBR3	130507	broad.mit.edu	37	2	170815035	170815035	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170815035T>G	ENST00000272793.5	+	24	3683	c.3633T>G	c.(3631-3633)gtT>gtG	p.V1211V	UBR3_ENST00000418381.1_Splice_Site_p.V1211V			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1211					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						CAATGGATGTTGGTAAGTCAA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	84	82			NA	NA	2		NA											NA				170815035		2203	4300	6503	SO:0001630	splice_region_variant			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357	130507	130507		Ubiquitin protein ligase E3 component n-recognins	30467	protein-coding gene	gene with protein product		613831	zinc finger protein 650	ZNF650	NA	17462990	Standard	NM_172070	NM_172070	NA	Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.3634+1T>G	2.37:g.170815035T>G		NA	B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	37		.	.	.	.	.	.	.	.	.	.	T	15.05	2.717807	0.48622	.	.	ENSG00000144357	ENST00000392632	.	.	.	6.04	4.86	0.63082	.	.	.	.	.	T	0.65015	0.2651	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62784	-0.6781	4	.	.	.	.	12.414	0.55483	0.0:0.066:0.0:0.9339	.	.	.	.	W	269	.	.	L	+	2	0	UBR3	170523281	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.746000	0.47467	1.066000	0.40716	0.523000	0.50628	TTG	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000255290.2	Silent	+	ENST00000272793.5	Splice_Site	SNP	2 : 170815035 - 170815035 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	456	68
DOPEY2	9980	broad.mit.edu	37	21	37537005	37537005	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37537005G>T	ENST00000399151.3	+	2	59		c.e2-1			NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	NA					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTTGCTTTTAGATACTTTTCT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	43	43			NA	NA	21		NA											NA				37537005		2203	4300	6503	SO:0001630	splice_region_variant			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197	9980	9980			1291	protein-coding gene	gene with protein product		604803	chromosome 21 open reading frame 5	C21orf5	NA	16301316, 16303751, 10931277	Standard	NM_005128	NM_005128	NA	Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.-26-1G>T	21.37:g.37537005G>T		NA	D3DSG5|Q6PJQ7|Q9UEZ3	37	CCDS13643.1																																																																																			DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000194636.1	Intron	+	ENST00000399151.3	Splice_Site	SNP	21 : 37537005 - 37537005 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	241	27
MLF2	8079	broad.mit.edu	37	12	6858017	6858017	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6858017C>T	ENST00000203630.5	-	8	1335	c.691G>A	c.(691-693)Gcc>Acc	p.A231T	MLF2_ENST00000435120.1_Missense_Mutation_p.A231T|MLF2_ENST00000539187.1_Missense_Mutation_p.A231T|MLF2_ENST00000542154.1_Missense_Mutation_p.A231T			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	231					defense response	cytoplasm|nucleus	protein binding			kidney(2)|large_intestine(3)|lung(4)	9						CCCTGGATGGCCAGGCGGGGA	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	39	37			NA	NA	12		NA											NA				6858017		2199	4290	6489	SO:0001583	missense			U57342	CCDS8559.1	12p13.31	2014-09-11			ENSG00000089693	ENSG00000089693	8079	8079			7126	protein-coding gene	gene with protein product		601401			NA	8661158	Standard		NM_005439	NA	Approved	NTN4	uc010sfi.2	Q15773	OTTHUMG00000168717	ENST00000203630.5:c.691G>A	12.37:g.6858017C>T	ENSP00000203630:p.Ala231Thr	NA		37	CCDS8559.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048903	0.75846	.	.	ENSG00000089693	ENST00000435120;ENST00000203630;ENST00000542154;ENST00000539187	.	.	.	5.08	5.08	0.68730	.	0.246438	0.40554	N	0.001074	T	0.44329	0.1288	N	0.24115	0.695	0.52501	D	0.999955	P	0.51791	0.948	P	0.45610	0.487	T	0.26677	-1.0096	9	0.17369	T	0.5	.	18.4861	0.90830	0.0:1.0:0.0:0.0	.	231	Q15773	MLF2_HUMAN	T	231	.	ENSP00000203630:A231T	A	-	1	0	MLF2	6728278	1.000000	0.71417	1.000000	0.80357	0.573000	0.36030	5.062000	0.64326	2.365000	0.80145	0.491000	0.48974	GCC	MLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400733.2		-	ENST00000203630.5	Missense_Mutation	SNP	12 : 6858017 - 6858017 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	516	85
EP400	57634	broad.mit.edu	37	12	132475998	132475998	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132475998T>C	ENST00000333577.4	+	11	2893	c.2784T>C	c.(2782-2784)tcT>tcC	p.S928S	EP400_ENST00000389562.2_Silent_p.S891S|EP400_ENST00000332482.4_Silent_p.S855S|EP400_ENST00000389561.2_Silent_p.S892S|EP400_ENST00000330386.6_Silent_p.S892S			Q96L91	EP400_HUMAN	E1A binding protein p400	928					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGGAAAGTTCTCTGGTAAGTT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	170	169			NA	NA	12		NA											NA				132475998		2203	4300	6503	SO:0001819	synonymous_variant			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495	57634	57634			11958	protein-coding gene	gene with protein product		606265	trinucleotide repeat containing 12	TNRC12	NA	9225980, 11509179	Standard	NM_015409	NM_015409	NA	Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.2784T>C	12.37:g.132475998T>C		NA	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	37																																																																																				EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding			+	ENST00000333577.4	Silent	SNP	12 : 132475998 - 132475998 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	646	104
TECPR2	9895	broad.mit.edu	37	14	102900983	102900983	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102900983G>T	ENST00000359520.7	+	9	2055	c.1829G>T	c.(1828-1830)aGc>aTc	p.S610I	TECPR2_ENST00000558678.1_Missense_Mutation_p.S610I	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	610							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GGACCAAATAGCACACAGTTA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	60	70			NA	NA	14		NA											NA				102900983		2203	4300	6503	SO:0001583	missense			AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663	9895	9895			19957	protein-coding gene	gene with protein product		615000	KIAA0329	KIAA0329	NA	9205841	Standard	NM_014844	NM_014844	NA	Approved		uc001ylw.2	O15040		ENST00000359520.7:c.1829G>T	14.37:g.102900983G>T	ENSP00000352510:p.Ser610Ile	NA	A6NFY9|A7E2X3|Q9UEG6	37	CCDS32162.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.59|11.59	1.684223|1.684223	0.29872|0.29872	.|.	.|.	ENSG00000196663|ENSG00000196663	ENST00000380088|ENST00000359520	.|T	.|0.15603	.|2.41	4.59|4.59	1.58|1.58	0.23477|0.23477	.|.	.|1.679610	.|0.02402	.|N	.|0.080727	.|T	.|0.11324	.|0.0276	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	.|B;B	.|0.06786	.|0.0;0.001	.|B;B	.|0.06405	.|0.0;0.002	.|T	.|0.23726	.|-1.0180	.|9	.|.	.|.	.|.	.|.	3.6399|3.6399	0.08163|0.08163	0.0829:0.1333:0.3749:0.4089|0.0829:0.1333:0.3749:0.4089	.|.	.|610;610	.|A5PKY3;O15040	.|.;TCPR2_HUMAN	.|I	-1|610	.|ENSP00000352510:S610I	.|.	.|S	+|+	.|2	.|0	TECPR2|TECPR2	101970736|101970736	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.341000|0.341000	0.28922|0.28922	-0.853000|-0.853000	0.04303|0.04303	0.140000|0.140000	0.18849|0.18849	0.555000|0.555000	0.69702|0.69702	.|AGC	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415056.2		+	ENST00000359520.7	Missense_Mutation	SNP	14 : 102900983 - 102900983 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	188	10
ACVR2B	93	broad.mit.edu	37	3	38524754	38524754	+	Silent	SNP	G	G	A	rs41285127		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38524754G>A	ENST00000352511.4	+	11	1942	c.1470G>A	c.(1468-1470)tcG>tcA	p.S490S		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	NA					activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		GCACTACCTCGGACTGTCTCG	0.592		NA											G	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	4e-04	0.95	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0								G		1,4405	2.1+/-5.4	0,1,2202	181	151	161		1470	4.2	1	3	dbSNP_127	161	0,8600		0,0,4300	no	coding-synonymous	ACVR2B	NM_001106.3		0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077		490/513	38524754	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			X77533	CCDS2679.1	3p22	2006-11-06			ENSG00000114739	ENSG00000114739	93	93			174	protein-coding gene	gene with protein product		602730			NA	8161782, 9621519	Standard	NM_001106	NM_001106	NA	Approved	ActR-IIB	uc003cif.3	Q13705	OTTHUMG00000131291	ENST00000352511.4:c.1470G>A	3.37:g.38524754G>A		NA	Q4VAV0	37	CCDS2679.1																																																																																			ACVR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254059.3		+	ENST00000352511.4	Silent	SNP	3 : 38524754 - 38524754 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	597	119
OR2AE1	81392	broad.mit.edu	37	7	99474422	99474422	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99474422G>T	ENST00000316368.2	-	1	258	c.235C>A	c.(235-237)Ctg>Atg	p.L79M		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GCCATCTTCAGGATGATTGTG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	97	103			NA	NA	7		NA											NA				99474422		2203	4300	6503	SO:0001583	missense			AC011904	CCDS34696.1	7q22.1	2014-02-19	2002-02-28		ENSG00000244623	ENSG00000244623	81392	81392		GPCR / Class A : Olfactory receptors	15087	protein-coding gene	gene with protein product			olfactory receptor, family 2, subfamily AE, member 2	OR2AE2	NA		Standard		NM_001005276	NA	Approved		uc003usc.1	Q8NHA4	OTTHUMG00000156650	ENST00000316368.2:c.235C>A	7.37:g.99474422G>T	ENSP00000313936:p.Leu79Met	NA	B2RPD2	37	CCDS34696.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.473671	0.26423	.	.	ENSG00000244623	ENST00000316368	T	0.00397	7.57	3.63	3.63	0.41609	GPCR, rhodopsin-like superfamily (1);	0.189811	0.26082	N	0.026448	T	0.00241	0.0007	N	0.24115	0.695	0.30255	N	0.793721	B	0.22080	0.064	B	0.09377	0.004	T	0.42378	-0.9455	10	0.87932	D	0	.	13.5959	0.61988	0.0:0.0:1.0:0.0	.	79	Q8NHA4	O2AE1_HUMAN	M	79	ENSP00000313936:L79M	ENSP00000313936:L79M	L	-	1	2	OR2AE1	99312358	1.000000	0.71417	0.992000	0.48379	0.043000	0.13939	5.722000	0.68485	2.321000	0.78463	0.501000	0.49751	CTG	OR2AE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345053.1		-	ENST00000316368.2	Missense_Mutation	SNP	7 : 99474422 - 99474422 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	421	78
C6	729	broad.mit.edu	37	5	41149377	41149377	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41149377G>T	ENST00000263413.3	-	17	2853	c.2589C>A	c.(2587-2589)ggC>ggA	p.G863G	C6_ENST00000337836.5_Silent_p.G863G	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	863	C5b-binding domain.|Complement control factor I module 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AGGTGTCATAGCCACAGGATT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													241	231	235			NA	NA	5		NA											NA				41149377		2203	4300	6503	SO:0001819	synonymous_variant			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537	729	729		Complement system	1339	protein-coding gene	gene with protein product		217050			NA		Standard		NM_001115131	NA	Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2589C>A	5.37:g.41149377G>T		NA		37	CCDS3936.1																																																																																			C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000211592.1		-	ENST00000263413.3	Silent	SNP	5 : 41149377 - 41149377 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1440	238
AURKC	6795	broad.mit.edu	37	19	57746274	57746274	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57746274C>T	ENST00000302804.7	+	6	793	c.607C>T	c.(607-609)Ctg>Ttg	p.L203L	AURKC_ENST00000599062.1_Silent_p.L200L|AURKC_ENST00000415300.2_Silent_p.L184L|AURKC_ENST00000448930.1_Silent_p.L169L|AURKC_ENST00000598785.1_Silent_p.L169L	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	203	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		GTGTGGGACACTGGACTACTT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	103	110			NA	NA	19		NA											NA				57746274		2203	4300	6503	SO:0001819	synonymous_variant				CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146	6795	6795			11391	protein-coding gene	gene with protein product		603495	serine/threonine kinase 13 (aurora/IPL1-like)	STK13	NA	9799611	Standard	NM_003160	XR_430209	NA	Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.607C>T	19.37:g.57746274C>T		NA	O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	37	CCDS33128.1																																																																																			AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465089.1		+	ENST00000302804.7	Silent	SNP	19 : 57746274 - 57746274 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	258	46
CNBP	7555	broad.mit.edu	37	3	128890615	128890615	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128890615C>A	ENST00000422453.2	-	2	147		c.e2-1		CNBP_ENST00000446936.2_Splice_Site|CNBP_ENST00000504813.1_Splice_Site|CNBP_ENST00000441626.2_Splice_Site|CNBP_ENST00000502976.1_Splice_Site|CNBP_ENST00000500450.2_Splice_Site|CNBP_ENST00000451728.2_Splice_Site	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	NA					cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						GCAGTCAGATCTTTGAAATAT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	35	35			NA	NA	3		NA											NA				128890615		2203	4300	6503	SO:0001630	splice_region_variant			U19765	CCDS3056.1, CCDS46906.1, CCDS46907.1, CCDS46908.1, CCDS54637.1	3q21	2013-01-09	2006-06-29	2006-06-29			7555	7555		RING-type (C3HC4) zinc fingers, Zinc fingers, CCHC domain containing	13164	protein-coding gene	gene with protein product		116955	zinc finger protein 9 (a cellular retroviral nucleic acid binding protein), zinc finger protein 9	DM2, ZNF9	NA	2249857, 11486088	Standard	NM_003418	NM_003418	NA	Approved	RNF163, ZCCHC22, CNBP1	uc021xdw.1	P62633		ENST00000422453.2:c.14-1G>T	3.37:g.128890615C>A		NA	B2RAV9|D3DNB9|D3DNC0|D3DNC1|P20694|Q5QJR0|Q6PJI7|Q96NV3	37	CCDS3056.1																																																																																			CNBP-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358419.1	Intron	-	ENST00000422453.2	Splice_Site	SNP	3 : 128890615 - 128890615 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	220	20
COL5A1	1289	broad.mit.edu	37	9	137715277	137715277	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137715277A>G	ENST00000371817.3	+	61	5074	c.4660A>G	c.(4660-4662)Aag>Gag	p.K1554E		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1554	Triple-helical region.			K -> R (in Ref. 1; BAA14323).	axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AACTGGCCCGAAGGGTGAGGC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	116	110			NA	NA	9		NA											NA				137715277		2203	4300	6503	SO:0001583	missense			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635	1289	1289		Collagens	2209	protein-coding gene	gene with protein product	alpha 1 type V collagen	120215			NA	1572660	Standard	NM_000093	NM_001278074	NA	Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4660A>G	9.37:g.137715277A>G	ENSP00000360882:p.Lys1554Glu	NA	Q15094|Q5SUX4	37	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.112518	0.77210	.	.	ENSG00000130635	ENST00000371817;ENST00000355306	D	0.94138	-3.36	5.14	5.14	0.70334	.	0.000000	0.85682	U	0.000000	D	0.94238	0.8150	L	0.33710	1.025	0.58432	D	0.999999	D	0.76494	0.999	D	0.81914	0.995	D	0.94402	0.7624	10	0.48119	T	0.1	.	14.9462	0.71032	1.0:0.0:0.0:0.0	.	1554	P20908	CO5A1_HUMAN	E	1554;91	ENSP00000360882:K1554E	ENSP00000347458:K91E	K	+	1	0	COL5A1	136855098	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	9.247000	0.95444	1.934000	0.56057	0.523000	0.50628	AAG	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054954.2		+	ENST00000371817.3	Missense_Mutation	SNP	9 : 137715277 - 137715277 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	715	136
WFS1	7466	broad.mit.edu	37	4	6303910	6303910	+	Silent	SNP	C	C	T	rs71532868		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6303910C>T	ENST00000226760.1	+	8	2558	c.2388C>T	c.(2386-2388)gaC>gaT	p.D796D	WFS1_ENST00000503569.1_Silent_p.D796D	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	796					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GCGAGGAGGACGACGTCACCA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	36	35			NA	NA	4		NA											NA				6303910		2203	4298	6501	SO:0001819	synonymous_variant			AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501	7466	7466			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38	NA	7987399, 9771706	Standard		NM_006005	NA	Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.2388C>T	4.37:g.6303910C>T		NA	B2R797|D3DVT1|Q8N6I3|Q9UNW6	37	CCDS3386.1																																																																																			WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206863.1		+	ENST00000226760.1	Silent	SNP	4 : 6303910 - 6303910 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	301	57
DUSP10	11221	broad.mit.edu	37	1	221875948	221875948	+	Missense_Mutation	SNP	C	C	T	rs116590328	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:221875948C>T	ENST00000366899.3	-	4	1493	c.1255G>A	c.(1255-1257)Gtc>Atc	p.V419I	DUSP10_ENST00000323825.3_Missense_Mutation_p.V77I|DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000544095.1_Missense_Mutation_p.V77I	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	419	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		TAAGCGATGACGATGGTGGCG	0.488		NA											C	1	5e-04	NA	NA	2184	NA	0.9998	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.8665	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0													131	120	124			NA	NA	1		NA											NA				221875948		2203	4300	6503	SO:0001583	missense			AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507	11221	11221		Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases	3065	protein-coding gene	gene with protein product		608867			NA	10391943, 10597297	Standard	NM_007207	NM_007207	NA	Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.1255G>A	1.37:g.221875948C>T	ENSP00000355866:p.Val419Ile	NA	D3DTB4|Q6GSI4|Q9H9Z5	37	CCDS1528.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	25.5	4.639782	0.87760	.	.	ENSG00000143507	ENST00000366899;ENST00000418487;ENST00000323825;ENST00000544095	T;T;T	0.62232	0.04;0.04;0.04	5.72	5.72	0.89469	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.58337	0.2115	L	0.48877	1.53	0.80722	D	1	P	0.50066	0.931	B	0.38921	0.285	T	0.65138	-0.6241	10	0.72032	D	0.01	.	20.2441	0.98394	0.0:1.0:0.0:0.0	.	419	Q9Y6W6	DUS10_HUMAN	I	419;364;77;77	ENSP00000355866:V419I;ENSP00000322015:V77I;ENSP00000441302:V77I	ENSP00000322015:V77I	V	-	1	0	DUSP10	219942571	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	7.776000	0.85560	2.865000	0.98341	0.655000	0.94253	GTC	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090716.1		-	ENST00000366899.3	Missense_Mutation	SNP	1 : 221875948 - 221875948 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	604	45
MAP4K1	11184	broad.mit.edu	37	19	39087084	39087084	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39087084G>A	ENST00000591517.1	-	26	2012	c.1984C>T	c.(1984-1986)Ctg>Ttg	p.L662L	MAP4K1_ENST00000396857.2_Silent_p.L662L|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000589130.1_Silent_p.L658L|CTB-186G2.1_ENST00000589557.1_RNA	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	662	CNH.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCGGTCAGCAGCGCGAACACG	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													9	12	11			NA	NA	19		NA											NA				39087084		1961	4117	6078	SO:0001819	synonymous_variant			U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	11184	11184	2.7.11.1	Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases	6863	protein-coding gene	gene with protein product	hematopoietic progenitor kinase 1	601983			NA	8824585	Standard	NM_001042600	NM_001042600	NA	Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1984C>T	19.37:g.39087084G>A		NA		37	CCDS59385.1																																																																																			MAP4K1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453390.1		-	ENST00000591517.1	Silent	SNP	19 : 39087084 - 39087084 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	82	18
LRP1	4035	broad.mit.edu	37	12	57590814	57590814	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57590814C>T	ENST00000243077.3	+	56	9408	c.8942C>T	c.(8941-8943)gCt>gTt	p.A2981V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2981	EGF-like 11.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGGACGTGTGCTGATGTGGAC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	74	76			NA	NA	12		NA											NA				57590814		2203	4300	6503	SO:0001583	missense			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384	4035	4035		CD molecules, Low density lipoprotein receptors	6692	protein-coding gene	gene with protein product		107770	alpha-2-macroglobulin receptor	APR, A2MR	NA	2548950	Standard	NM_002332	NM_002332	NA	Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.8942C>T	12.37:g.57590814C>T	ENSP00000243077:p.Ala2981Val	NA	Q2PP12|Q8IVG8	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.145484	0.37825	.	.	ENSG00000123384	ENST00000243077	D	0.93189	-3.18	5.34	4.45	0.53987	Growth factor, receptor (1);EGF-like calcium-binding (1);	0.427349	0.21337	N	0.076199	D	0.82375	0.5023	N	0.05078	-0.115	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.75291	-0.3369	10	0.24483	T	0.36	.	7.1939	0.25841	0.0:0.7505:0.0:0.2495	.	2981	Q07954	LRP1_HUMAN	V	2981	ENSP00000243077:A2981V	ENSP00000243077:A2981V	A	+	2	0	LRP1	55877081	0.900000	0.30661	0.607000	0.28956	0.903000	0.53119	3.175000	0.50855	1.489000	0.48450	0.511000	0.50034	GCT	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412772.2		+	ENST00000243077.3	Missense_Mutation	SNP	12 : 57590814 - 57590814 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	27
KLHDC8A	55220	broad.mit.edu	37	1	205312649	205312649	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205312649C>T	ENST00000367156.3	-	5	900	c.84G>A	c.(82-84)gaG>gaA	p.E28E	KLHDC8A_ENST00000460687.1_Intron|KLHDC8A_ENST00000539253.1_Silent_p.E28E|KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000367155.3_Silent_p.E28E	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	28										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGCCCCCGGTCTCCAGCAGGG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	24	23			NA	NA	1		NA											NA				205312649		2202	4299	6501	SO:0001819	synonymous_variant				CCDS30985.1	1q32.1	2008-02-05			ENSG00000162873	ENSG00000162873	55220	55220			25573	protein-coding gene	gene with protein product		614503			NA		Standard	NM_018203	NM_018203	NA	Approved	FLJ10748	uc031prx.1	Q8IYD2	OTTHUMG00000037199	ENST00000367156.3:c.84G>A	1.37:g.205312649C>T		NA	B3KU70|Q9NVG5	37	CCDS30985.1																																																																																			KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090397.1		-	ENST00000367156.3	Silent	SNP	1 : 205312649 - 205312649 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	156	58
BRD1	23774	broad.mit.edu	37	22	50191584	50191584	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50191584C>T	ENST00000216267.8	-	5	2453	c.1967G>A	c.(1966-1968)cGc>cAc	p.R656H	BRD1_ENST00000404760.1_Missense_Mutation_p.R656H|BRD1_ENST00000457780.2_Missense_Mutation_p.R656H|BRD1_ENST00000342989.5_Missense_Mutation_p.R251H|BRD1_ENST00000542442.1_Missense_Mutation_p.R344H|BRD1_ENST00000404034.1_Missense_Mutation_p.R656H	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	656					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCCCTGATCGCGCAGCCTCAC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	66	69			NA	NA	22		NA											NA				50191584		2203	4300	6503	SO:0001583	missense			AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425	23774	23774			1102	protein-coding gene	gene with protein product	BR140-like	604589	bromodomain-containing 1		NA	10591208, 10602503	Standard	NM_014577	NM_014577	NA	Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.1967G>A	22.37:g.50191584C>T	ENSP00000216267:p.Arg656His	NA	A6ZJA4	37	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394432	0.83011	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14;2.14	5.29	5.29	0.74685	Bromodomain (3);	0.000000	0.85682	D	0.000000	T	0.49115	0.1538	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.996;1.0	P;D;P;D	0.67900	0.895;0.954;0.756;0.951	T	0.52563	-0.8559	10	0.66056	D	0.02	.	18.9391	0.92598	0.0:1.0:0.0:0.0	.	656;251;656;656	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	H	656;656;656;656;344;251;116	ENSP00000216267:R656H;ENSP00000384076:R656H;ENSP00000385858:R656H;ENSP00000410042:R656H;ENSP00000437514:R344H;ENSP00000345886:R251H	ENSP00000216267:R656H	R	-	2	0	BRD1	48577588	1.000000	0.71417	0.957000	0.39632	0.969000	0.65631	7.549000	0.82163	2.458000	0.83093	0.655000	0.94253	CGC	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317402.1		-	ENST00000216267.8	Missense_Mutation	SNP	22 : 50191584 - 50191584 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	68
IMPG1	3617	broad.mit.edu	37	6	76660589	76660589	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76660589T>C	ENST00000369950.3	-	13	1703	c.1514A>G	c.(1513-1515)gAc>gGc	p.D505G	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	505					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TGATCGGCTGTCATCTGAAGA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(37;839 1141 2599 26037)							NA				0													93	87	89			NA	NA	6		NA											NA				76660589		2203	4300	6503	SO:0001583	missense			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706	3617	3617			6055	protein-coding gene	gene with protein product		602870	sialoprotein associated with cones and rods	SPACR	NA		Standard	NM_001563	NM_001282368	NA	Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1514A>G	6.37:g.76660589T>C	ENSP00000358966:p.Asp505Gly	NA	A6NNZ6|O43686|O95094|Q9BWZ1	37	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	T	10.01	1.233902	0.22626	.	.	ENSG00000112706	ENST00000369950	T	0.20463	2.07	5.03	2.57	0.30868	.	0.426346	0.21631	N	0.071490	T	0.05318	0.0141	L	0.38175	1.15	0.18873	N	0.999987	B	0.12630	0.006	B	0.08055	0.003	T	0.30679	-0.9970	10	0.41790	T	0.15	.	6.2104	0.20626	0.0:0.1538:0.1359:0.7103	.	505	Q17R60	IMPG1_HUMAN	G	505	ENSP00000358966:D505G	ENSP00000358966:D505G	D	-	2	0	IMPG1	76717309	0.000000	0.05858	0.062000	0.19696	0.190000	0.23558	-0.053000	0.11846	0.852000	0.35287	0.528000	0.53228	GAC	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041288.1		-	ENST00000369950.3	Missense_Mutation	SNP	6 : 76660589 - 76660589 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	268	54
IKZF4	64375	broad.mit.edu	37	12	56428846	56428846	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56428846G>T	ENST00000547791.1	+	7	1443	c.1354G>T	c.(1354-1356)Gag>Tag	p.E452*	IKZF4_ENST00000262032.5_Nonsense_Mutation_p.E497*|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000431367.2_Nonsense_Mutation_p.E395*|IKZF4_ENST00000547167.1_Nonsense_Mutation_p.E497*			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	497					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CTACGCCAAAGAGGACCCCAA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	45	44			NA	NA	12		NA											NA				56428846		1891	4109	6000	SO:0001587	stop_gained			AF230809	CCDS44917.1	12q13	2013-01-08	2006-08-25	2006-08-25		ENSG00000123411	64375	64375		Zinc fingers, C2H2-type, IKAROS zinc fingers	13179	protein-coding gene	gene with protein product		606239	zinc finger protein, subfamily 1A, 4 (Eos)	ZNFN1A4	NA	10978333	Standard	NM_022465	NM_022465	NA	Approved	Eos	uc001sjc.1	Q9H2S9		ENST00000547791.1:c.1354G>T	12.37:g.56428846G>T	ENSP00000450020:p.Glu452*	NA	Q96JP3	37		.	.	.	.	.	.	.	.	.	.	G	22.9	4.349796	0.82132	.	.	ENSG00000123411	ENST00000262032;ENST00000431367;ENST00000547167;ENST00000547791	.	.	.	4.08	4.08	0.47627	.	0.000000	0.47852	D	0.000216	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-19.8609	15.5539	0.76177	0.0:0.0:1.0:0.0	.	.	.	.	X	497;395;497;452	.	ENSP00000262032:E497X	E	+	1	0	IKZF4	54715113	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.374000	0.79633	2.268000	0.75426	0.313000	0.20887	GAG	IKZF4-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000407597.1		+	ENST00000547791.1	Nonsense_Mutation	SNP	12 : 56428846 - 56428846 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	372	78
NEO1	4756	broad.mit.edu	37	15	73409160	73409160	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73409160G>T	ENST00000339362.5	+	3	857	c.410G>T	c.(409-411)gGa>gTa	p.G137V	NEO1_ENST00000560262.1_Missense_Mutation_p.G137V|NEO1_ENST00000558964.1_Missense_Mutation_p.G137V|NEO1_ENST00000261908.6_Missense_Mutation_p.G137V			Q92859	NEO1_HUMAN	neogenin 1	137	Ig-like C2-type 1.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GAGAGTCTTGGAACTATTATC	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	97	97			NA	NA	15		NA											NA				73409160		2198	4296	6494	SO:0001583	missense			U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141	4756	4756		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	7754	protein-coding gene	gene with protein product	immunoglobulin superfamily, DCC subclass, member 2	601907	neogenin (chicken) homolog 1		NA	9121761	Standard	NM_002499	NM_002499	NA	Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.410G>T	15.37:g.73409160G>T	ENSP00000341198:p.Gly137Val	NA	O00340|Q17RX1	37	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675237	0.88445	.	.	ENSG00000067141	ENST00000339362;ENST00000261908	T;T	0.58506	0.33;0.33	5.92	5.92	0.95590	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84483	0.5482	H	0.95294	3.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.87943	0.2718	10	0.72032	D	0.01	-16.9501	20.33	0.98713	0.0:0.0:1.0:0.0	.	137;137;137	B7ZKM9;B7ZKN0;Q92859	.;.;NEO1_HUMAN	V	137	ENSP00000341198:G137V;ENSP00000261908:G137V	ENSP00000261908:G137V	G	+	2	0	NEO1	71196213	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.209000	0.95087	2.810000	0.96702	0.585000	0.79938	GGA	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257472.2		+	ENST00000339362.5	Missense_Mutation	SNP	15 : 73409160 - 73409160 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	573	103
SPON2	10417	broad.mit.edu	37	4	1165096	1165096	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1165096G>A	ENST00000290902.5	-	3	731	c.399C>T	c.(397-399)acC>acT	p.T133T	SPON2_ENST00000431380.1_Silent_p.T133T	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	133	Spondin.				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		ACGTCTGCCCGGTGCCGCTGG	0.791		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													5	6	6			NA	NA	4		NA											NA				1165096		1766	3620	5386	SO:0001819	synonymous_variant			AB027466	CCDS3347.1	4p16.3	2008-07-29			ENSG00000159674	ENSG00000159674	10417	10417			11253	protein-coding gene	gene with protein product	Mindin, M-spondin	605918			NA	10512675, 15094111	Standard		NM_012445	NA	Approved	DIL1	uc003gco.4	Q9BUD6	OTTHUMG00000089002	ENST00000290902.5:c.399C>T	4.37:g.1165096G>A		NA	Q4W5N4|Q9ULW1	37	CCDS3347.1																																																																																			SPON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000202080.2		-	ENST00000290902.5	Silent	SNP	4 : 1165096 - 1165096 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	92	21
SP2	6668	broad.mit.edu	37	17	46002805	46002805	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46002805C>T	ENST00000376741.4	+	6	1776	c.1639C>T	c.(1639-1641)Cgc>Tgc	p.R547C	AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000433001.1_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	547					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						TGCCCATGTGCGCCTGCACAC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	158	164			NA	NA	17		NA											NA				46002805		2203	4300	6503	SO:0001583	missense				CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182	6668	6668		Specificity protein transcription factors, Zinc fingers, C2H2-type	11207	protein-coding gene	gene with protein product		601801			NA	1341900, 9730617	Standard	NM_003110	NM_003110	NA	Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.1639C>T	17.37:g.46002805C>T	ENSP00000365931:p.Arg547Cys	NA	A6NK74	37	CCDS11521.2	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415481	0.83449	.	.	ENSG00000167182	ENST00000376741	T	0.25749	1.78	4.87	4.87	0.63330	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.54631	0.1870	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	T	0.61806	-0.6987	10	0.87932	D	0	.	16.9362	0.86203	0.0:1.0:0.0:0.0	.	547	Q02086	SP2_HUMAN	C	547	ENSP00000365931:R547C	ENSP00000365931:R547C	R	+	1	0	SP2	43357804	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.873000	0.69644	2.531000	0.85337	0.462000	0.41574	CGC	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316777.1		+	ENST00000376741.4	Missense_Mutation	SNP	17 : 46002805 - 46002805 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1094	203
NR1H2	7376	broad.mit.edu	37	19	50881936	50881936	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50881936C>T	ENST00000253727.5	+	6	865	c.630C>T	c.(628-630)ggC>ggT	p.G210G	NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000599105.1_Silent_p.G210G|NR1H2_ENST00000411902.2_Silent_p.G113G|NR1H2_ENST00000593926.1_Silent_p.G210G|NR1H2_ENST00000598168.1_Silent_p.G210G	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	210					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GCAGCCAGGGCTCCGGGGAAG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	43	40			NA	NA	19		NA											NA				50881936		2108	4248	6356	SO:0001819	synonymous_variant			U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408	7376	7376		Nuclear hormone receptors	7965	protein-coding gene	gene with protein product	liver X receptor-beta	600380	ubiquitously-expressed nuclear receptor	UNR	NA	7782080, 7971966	Standard		NM_007121	NA	Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.630C>T	19.37:g.50881936C>T		NA	A8K490|Q12970|Q5I0Y1	37	CCDS42593.1																																																																																			NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464724.2		+	ENST00000253727.5	Silent	SNP	19 : 50881936 - 50881936 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	298	41
DIRAS1	148252	broad.mit.edu	37	19	2717474	2717474	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2717474C>T	ENST00000323469.4	-	2	514	c.331G>A	c.(331-333)Gtg>Atg	p.V111M	DIRAS1_ENST00000585334.1_Missense_Mutation_p.V111M	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	111					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				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)		ATGTCCTCCACGCTGCCCTTG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	49	53			NA	NA	19		NA											NA				2717474		2202	4300	6502	SO:0001583	missense			BC030660	CCDS12092.1	19p13.3	2014-05-09				ENSG00000176490	NA	148252			19127	protein-coding gene	gene with protein product		607862			NA	12107278	Standard		NM_145173	NA	Approved	Di-Ras1, GBTS1, RIG	uc002lwf.3	O95057		ENST00000323469.4:c.331G>A	19.37:g.2717474C>T	ENSP00000325836:p.Val111Met	NA		37	CCDS12092.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.212378	0.39102	.	.	ENSG00000176490	ENST00000323469	T	0.70164	-0.46	4.21	4.21	0.49690	Small GTP-binding protein domain (1);	0.064498	0.64402	D	0.000009	T	0.56337	0.1978	L	0.53671	1.685	0.58432	D	0.99999	B	0.28208	0.203	B	0.24541	0.054	T	0.54774	-0.8243	10	0.31617	T	0.26	.	8.0326	0.30474	0.0:0.8865:0.0:0.1135	.	111	O95057	DIRA1_HUMAN	M	111	ENSP00000325836:V111M	ENSP00000325836:V111M	V	-	1	0	DIRAS1	2668474	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.573000	0.46007	1.898000	0.54952	0.549000	0.68633	GTG	DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451350.1		-	ENST00000323469.4	Missense_Mutation	SNP	19 : 2717474 - 2717474 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	286	40
DSP	1832	broad.mit.edu	37	6	7578046	7578046	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7578046G>T	ENST00000379802.3	+	21	3253	c.2912G>T	c.(2911-2913)gGa>gTa	p.G971V	DSP_ENST00000418664.2_Missense_Mutation_p.G971V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	971	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TACACCTCAGGACTGGAAACT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	130	133			NA	NA	6		NA											NA				7578046		2203	4300	6503	SO:0001583	missense			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696	1832	1832			3052	protein-coding gene	gene with protein product		125647	desmoplakin (DPI, DPII)		NA	1889810	Standard	NM_004415	NM_004415	NA	Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.2912G>T	6.37:g.7578046G>T	ENSP00000369129:p.Gly971Val	NA	B2RTT2|O75993|Q14189|Q9UHN4	37	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008277	0.75046	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.78595	-1.19;2.07	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000016	T	0.82038	0.4950	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76318	-0.3003	10	0.14656	T	0.56	.	19.5192	0.95179	0.0:0.0:1.0:0.0	.	1018;971	Q4LE79;P15924	.;DESP_HUMAN	V	971;971;776	ENSP00000369129:G971V;ENSP00000396591:G971V	ENSP00000369129:G971V	G	+	2	0	DSP	7523045	1.000000	0.71417	0.991000	0.47740	0.776000	0.43924	9.476000	0.97823	2.611000	0.88343	0.655000	0.94253	GGA	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039786.2		+	ENST00000379802.3	Missense_Mutation	SNP	6 : 7578046 - 7578046 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	654	54
ZNF831	128611	broad.mit.edu	37	20	57766678	57766678	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57766678C>A	ENST00000371030.2	+	1	604	c.604C>A	c.(604-606)Ctg>Atg	p.L202M		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	202						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CAACTCCCGGCTGTCCTCAGA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	45	42			NA	NA	20		NA											NA				57766678		2012	4169	6181	SO:0001583	missense			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203	128611	128611			16167	protein-coding gene	gene with protein product			chromosome 20 open reading frame 174	C20orf174	NA		Standard	NM_178457	NM_178457	NA	Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.604C>A	20.37:g.57766678C>A	ENSP00000360069:p.Leu202Met	NA	Q5TDR4|Q8TCP0	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.389185	0.42410	.	.	ENSG00000124203	ENST00000371030	T	0.06687	3.27	5.41	4.46	0.54185	.	.	.	.	.	T	0.11537	0.0281	N	0.24115	0.695	0.25713	N	0.985465	D	0.62365	0.991	P	0.55923	0.787	T	0.13737	-1.0498	9	0.87932	D	0	-1.5935	7.5748	0.27928	0.1637:0.7519:0.0:0.0844	.	202	Q5JPB2	ZN831_HUMAN	M	202	ENSP00000360069:L202M	ENSP00000360069:L202M	L	+	1	2	ZNF831	57200073	0.014000	0.17966	0.631000	0.29282	0.837000	0.47467	0.966000	0.29331	1.255000	0.44051	0.561000	0.74099	CTG	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079916.2		+	ENST00000371030.2	Missense_Mutation	SNP	20 : 57766678 - 57766678 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	633	114
PAPPA	5069	broad.mit.edu	37	9	119093522	119093522	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119093522G>A	ENST00000328252.3	+	11	3516		c.e11-1		PAPPA_ENST00000534838.1_Splice_Site	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	NA					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TATTTTTCCAGGTGTGTCGAA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	70	71			NA	NA	9		NA											NA				119093522		2203	4300	6503	SO:0001630	splice_region_variant				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752	5069	5069			8602	protein-coding gene	gene with protein product	insulin-like growth factor-dependent IGF binding protein-4 protease, aspecific BCL2 ARE-binding protein 2, differentially placenta 1 expressed protein	176385			NA	7679961	Standard	NM_002581	NM_002581	NA	Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.3148-1G>A	9.37:g.119093522G>A		NA	B1AMF9|Q08371|Q68G52|Q9UDK7	37	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644489	0.87859	.	.	ENSG00000182752	ENST00000328252;ENST00000443904;ENST00000534838	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8014	0.92018	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PAPPA	118133343	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	8.079000	0.89508	2.882000	0.98803	0.655000	0.94253	.	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055546.1	Intron	+	ENST00000328252.3	Splice_Site	SNP	9 : 119093522 - 119093522 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	249	56
TTN	7273	broad.mit.edu	37	2	179433050	179433050	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179433050C>T	ENST00000589042.1	-	326	78033	c.77809G>A	c.(77809-77811)Gta>Ata	p.V25937I	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V24296I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V16997I|TTN_ENST00000460472.2_Missense_Mutation_p.V16872I|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V23369I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V17064I|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24296	Fibronectin type-III 89.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACATCCCATACTGTGGTGGTT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	90	92			NA	NA	2		NA											NA				179433050		1875	4103	5978	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.77809G>A	2.37:g.179433050C>T	ENSP00000467141:p.Val25937Ile	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.341799	0.24339	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.64	2.59	0.31030	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41926	0.1180	L	0.33485	1.01	0.25217	N	0.989934	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.003;0.003;0.002	T	0.42766	-0.9432	9	0.87932	D	0	.	10.9367	0.47249	0.0:0.6307:0.2998:0.0695	.	16872;16997;17064;24296	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	23369;16872;17064;16997;16870	ENSP00000343764:V23369I;ENSP00000434586:V16872I;ENSP00000340554:V17064I;ENSP00000352154:V16997I	ENSP00000340554:V17064I	V	-	1	0	TTN	179141296	0.690000	0.27699	1.000000	0.80357	0.987000	0.75469	1.222000	0.32515	1.356000	0.45884	0.655000	0.94253	GTA	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179433050 - 179433050 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	293	67
BTN1A1	696	broad.mit.edu	37	6	26505184	26505184	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26505184A>C	ENST00000244513.6	+	3	525	c.459A>C	c.(457-459)caA>caC	p.Q153H		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	153	Ig-like V-type 2.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TCAGTATGCAAGTTCAAGAGA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	66	67			NA	NA	6		NA											NA				26505184		2203	4300	6503	SO:0001583	missense			U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557	696	696		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Butyrophilins	1135	protein-coding gene	gene with protein product		601610		BTN	NA	8114113, 9382921	Standard	NM_001732	NM_001732	NA	Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.459A>C	6.37:g.26505184A>C	ENSP00000244513:p.Gln153His	NA	Q4VAN3|Q4VAN4|Q9H458	37	CCDS4614.1	.	.	.	.	.	.	.	.	.	.	A	12.98	2.100831	0.37048	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.76448	-1.02	5.63	1.89	0.25635	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.847946	0.10453	N	0.672858	T	0.37128	0.0992	N	0.10760	0.04	0.22034	N	0.999404	B	0.14012	0.009	B	0.17979	0.02	T	0.36720	-0.9736	10	0.66056	D	0.02	.	6.3797	0.21527	0.6791:0.0:0.3209:0.0	.	153	Q13410	BT1A1_HUMAN	H	153	ENSP00000244513:Q153H	ENSP00000244513:Q153H	Q	+	3	2	BTN1A1	26613163	0.312000	0.24545	0.650000	0.29550	0.602000	0.36980	0.457000	0.21875	0.381000	0.24851	0.533000	0.62120	CAA	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043776.1		+	ENST00000244513.6	Missense_Mutation	SNP	6 : 26505184 - 26505184 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	237	44
RNASET2	8635	broad.mit.edu	37	6	167344532	167344532	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:167344532C>A	ENST00000366855.6	-	9	1128	c.453G>T	c.(451-453)caG>caT	p.Q151H	RNASET2_ENST00000476238.2_Splice_Site_p.Q189H|RNASET2_ENST00000508775.1_Splice_Site_p.Q189H|RP11-514O12.4_ENST00000507747.1_Intron			O00584	RNT2_HUMAN	ribonuclease T2	189					RNA catabolic process	extracellular region	ribonuclease T2 activity|RNA binding			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		ACTGTCTAACCTGGCTTGGTG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	152	155			NA	NA	6		NA											NA				167344532		2203	4300	6503	SO:0001630	splice_region_variant			AJ419866	CCDS5295.1	6q27	2014-05-20			ENSG00000026297	ENSG00000026297	8635	8635			21686	protein-coding gene	gene with protein product		612944			NA	9192857	Standard	NM_003730	NM_003730	NA	Approved	RNASE6PL, FLJ10907, bA514O12.3	uc003qve.3	O00584	OTTHUMG00000016009	ENST00000366855.6:c.453+1G>T	6.37:g.167344532C>A		NA	B2RDA7|E1P5C3|Q5T8Q0|Q8TCU2|Q9BZ46|Q9BZ47	37		.	.	.	.	.	.	.	.	.	.	C	13.92	2.379746	0.42207	.	.	ENSG00000026297	ENST00000366855;ENST00000508775;ENST00000428859;ENST00000476238;ENST00000478180	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	4.5	4.5	0.54988	.	0.705587	0.14459	N	0.318337	D	0.82527	0.5056	M	0.61703	1.905	0.54753	D	0.99998	D;D	0.71674	0.998;0.997	D;D	0.73708	0.981;0.925	T	0.81769	-0.0781	9	.	.	.	-17.1781	14.7166	0.69275	0.0:1.0:0.0:0.0	.	239;189	C9JIU8;O00584	.;RNT2_HUMAN	H	151;189;239;189;189	ENSP00000424947:Q151H;ENSP00000426455:Q189H;ENSP00000422846:Q189H;ENSP00000426059:Q189H	.	Q	-	3	2	RNASET2	167264522	1.000000	0.71417	0.212000	0.23672	0.083000	0.17756	3.989000	0.56958	2.045000	0.60652	0.563000	0.77884	CAG	RNASET2-007	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000043095.2	Missense_Mutation	-	ENST00000366855.6	Splice_Site	SNP	6 : 167344532 - 167344532 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	663	125
ITIH2	3698	broad.mit.edu	37	10	7762890	7762890	+	Silent	SNP	C	C	T	rs148694864	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7762890C>T	ENST00000379587.4	+	6	704	c.669C>T	c.(667-669)ttC>ttT	p.F223F	ITIH2_ENST00000358415.4_Silent_p.F234F			P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	234					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.F234F(2)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AAGGCCATTTCGATGGTGTTC	0.483		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)						C		3,4403	6.2+/-15.9	0,3,2200	162	136	145		702	0.4	1	10	dbSNP_134	145	0,8600		0,0,4300	no	coding-synonymous	ITIH2	NM_002216.2		0,3,6500	TT,TC,CC	NA	0.0,0.0681,0.0231		234/947	7762890	3,13003	2203	4300	6503	SO:0001819	synonymous_variant			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655	3698	3698			6167	protein-coding gene	gene with protein product		146640	inter-alpha (globulin) inhibitor, H2 polypeptide		NA	1385302, 10100603	Standard	NM_002216	NM_002216	NA	Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000379587.4:c.669C>T	10.37:g.7762890C>T		NA	Q14659|Q15484|Q5T986	37																																																																																				ITIH2-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000046679.2		+	ENST00000379587.4	Silent	SNP	10 : 7762890 - 7762890 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	581	103
NALCN	259232	broad.mit.edu	37	13	101714357	101714357	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101714357C>T	ENST00000251127.6	-	41	4799	c.4718G>A	c.(4717-4719)cGc>cAc	p.R1573H		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1573						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GAGCCACATGCGGATGGTCTG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	90	102			NA	NA	13		NA											NA				101714357		2203	4300	6503	SO:0001583	missense			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452	259232	259232		Ion channels / Sodium leak channels, non-selective	19082	protein-coding gene	gene with protein product		611549	voltage gated channel like 1	VGCNL1	NA	17448995	Standard	NM_052867	XM_006719943	NA	Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.4718G>A	13.37:g.101714357C>T	ENSP00000251127:p.Arg1573His	NA	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	35	5.441723	0.96187	.	.	ENSG00000102452	ENST00000251127	D	0.98090	-4.71	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.98343	0.9450	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.99379	1.0922	10	0.72032	D	0.01	.	20.0931	0.97828	0.0:1.0:0.0:0.0	.	1573	Q8IZF0	NALCN_HUMAN	H	1573	ENSP00000251127:R1573H	ENSP00000251127:R1573H	R	-	2	0	NALCN	100512358	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.274000	0.78538	2.759000	0.94783	0.650000	0.86243	CGC	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045663.2		-	ENST00000251127.6	Missense_Mutation	SNP	13 : 101714357 - 101714357 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	436	76
LPL	4023	broad.mit.edu	37	8	19805714	19805714	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19805714G>A	ENST00000311322.8	+	2	582	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	LPL_ENST00000521994.1_3'UTR	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	38					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	TATCGACATCGAAAGTAAATT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	115	117			NA	NA	8		NA											NA				19805714		2203	4300	6503	SO:0001583	missense				CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	4023	4023	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD	NA		Standard		NM_000237	NA	Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.112G>A	8.37:g.19805714G>A	ENSP00000309757:p.Glu38Lys	NA	B2R5T9|Q16282|Q16283|Q96FC4	37	CCDS6012.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503993	0.44558	.	.	ENSG00000175445	ENST00000524029;ENST00000522701;ENST00000311322;ENST00000535763	D;D;D	0.90732	-2.72;-2.72;-2.72	5.23	5.23	0.72850	Lipase, N-terminal (1);	0.149727	0.64402	D	0.000018	D	0.84597	0.5507	L	0.35542	1.07	0.34686	D	0.725273	P	0.41848	0.763	B	0.35413	0.202	D	0.86747	0.1958	8	.	.	.	-33.3413	16.6495	0.85185	0.0:0.0:1.0:0.0	.	38	P06858	LIPL_HUMAN	K	38;38;38;24	ENSP00000428237:E38K;ENSP00000428557:E38K;ENSP00000309757:E38K	.	E	+	1	0	LPL	19849994	1.000000	0.71417	0.990000	0.47175	0.449000	0.32228	5.307000	0.65762	2.599000	0.87857	0.655000	0.94253	GAA	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089113.3		+	ENST00000311322.8	Missense_Mutation	SNP	8 : 19805714 - 19805714 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	798	140
TEKT2	27285	broad.mit.edu	37	1	36553677	36553677	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36553677C>T	ENST00000207457.3	+	10	1310	c.1183C>T	c.(1183-1185)Cgc>Tgc	p.R395C		NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	395					cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGACACACGGCGCAAGCTGAC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	37	41			NA	NA	1		NA											NA				36553677		2202	4300	6502	SO:0001583	missense			AB033823	CCDS401.1	1p34.3	2008-02-05			ENSG00000092850	ENSG00000092850	27285	27285			11725	protein-coding gene	gene with protein product		608953			NA	12029069, 11751288	Standard	NM_014466	NM_014466	NA	Approved	TEKTB1	uc001bzr.3	Q9UIF3	OTTHUMG00000007629	ENST00000207457.3:c.1183C>T	1.37:g.36553677C>T	ENSP00000207457:p.Arg395Cys	NA	A6NIS6|O60638	37	CCDS401.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.376836	0.42105	.	.	ENSG00000092850	ENST00000207457	T	0.02737	4.18	4.95	4.95	0.65309	.	0.356751	0.28964	N	0.013579	T	0.06600	0.0169	M	0.77103	2.36	0.54753	D	0.999989	B	0.16802	0.019	B	0.17722	0.019	T	0.04467	-1.0949	10	0.62326	D	0.03	.	13.8828	0.63691	0.1531:0.8469:0.0:0.0	.	395	Q9UIF3	TEKT2_HUMAN	C	395	ENSP00000207457:R395C	ENSP00000207457:R395C	R	+	1	0	TEKT2	36326264	0.571000	0.26659	0.820000	0.32676	0.669000	0.39330	0.973000	0.29422	2.266000	0.75297	0.462000	0.41574	CGC	TEKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000020200.1		+	ENST00000207457.3	Missense_Mutation	SNP	1 : 36553677 - 36553677 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	147	28
ZFHX4	79776	broad.mit.edu	37	8	77618747	77618747	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77618747T>C	ENST00000521891.2	+	2	2872	c.2424T>C	c.(2422-2424)aaT>aaC	p.N808N	ZFHX4_ENST00000050961.6_Silent_p.N808N|ZFHX4_ENST00000455469.2_Silent_p.N808N|ZFHX4_ENST00000518282.1_Silent_p.N808N|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	808						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCCAGCATAATCTGCACTTGG	0.507		NA								HNSCC(33;0.089)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	27	27			NA	NA	8		NA											NA				77618747		2051	4205	6256	SO:0001819	synonymous_variant				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656	79776	79776		Homeoboxes / ZF class	30939	protein-coding gene	gene with protein product		606940	zinc finger homeodomain 4		NA	10873665, 11935336	Standard	NM_024721	NM_024721	NA	Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.2424T>C	8.37:g.77618747T>C		NA	Q18PS0|Q6ZN20	37	CCDS47878.2																																																																																			ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379197.2		+	ENST00000521891.2	Silent	SNP	8 : 77618747 - 77618747 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	111	19
PRUNE2	158471	broad.mit.edu	37	9	79320449	79320449	+	Silent	SNP	G	G	A	rs41288769		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79320449G>A	ENST00000376718.3	-	8	6864	c.6741C>T	c.(6739-6741)gaC>gaT	p.D2247D	PRUNE2_ENST00000428286.1_Silent_p.D1888D	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2247					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCCAAGAACCGTCACCTTCTG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,3135		0,1,1567	59	55	56		6741	-8.9	0	9	dbSNP_127	56	4,7160		0,4,3578	no	coding-synonymous	PRUNE2	NM_015225.2		0,5,5145	AA,AG,GG	NA	0.0558,0.0319,0.0485		2247/3089	79320449	5,10295	1568	3582	5150	SO:0001819	synonymous_variant			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772	158471	158471			25209	protein-coding gene	gene with protein product	olfaxin	610691	chromosome 9 open reading frame 65, KIAA0367	C9orf65, KIAA0367	NA	16288218	Standard	NM_138818	NM_015225	NA	Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.6741C>T	9.37:g.79320449G>A		NA	B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	37	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	2.946	-0.217713	0.06101	3.19E-4	5.58E-4	ENSG00000106772	ENST00000426088	.	.	.	5.83	-8.89	0.00785	.	.	.	.	.	T	0.17492	0.0420	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23226	-1.0194	4	.	.	.	-1.7271	4.4751	0.11731	0.5482:0.1679:0.1996:0.0843	rs41288769	.	.	.	W	1569	.	.	R	-	1	2	PRUNE2	78510269	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.800000	0.04555	-1.221000	0.02591	-0.345000	0.07892	CGG	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052730.2		-	ENST00000376718.3	Silent	SNP	9 : 79320449 - 79320449 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	241	42
GJC1	10052	broad.mit.edu	37	17	42882639	42882639	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42882639C>A	ENST00000426548.1	-	3	816	c.547G>T	c.(547-549)Gca>Tca	p.A183S	GJC1_ENST00000330514.4_Missense_Mutation_p.A183S|GJC1_ENST00000590758.1_Missense_Mutation_p.A183S|GJC1_ENST00000592524.1_Missense_Mutation_p.A183S	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	183					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				ACGGTCCTTGCCAGCAACTGC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													204	184	191			NA	NA	17		NA											NA				42882639		2203	4300	6503	SO:0001583	missense			U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963	10052	10052		Ion channels / Gap junction proteins (connexins)	4280	protein-coding gene	gene with protein product	connexin 45	608655	gap junction protein, alpha 7, 45kDa	GJA7	NA	7966354	Standard	NM_005497	NM_005497	NA	Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.547G>T	17.37:g.42882639C>A	ENSP00000411528:p.Ala183Ser	NA	B3KW68|Q4VAY0	37	CCDS11487.1	.	.	.	.	.	.	.	.	.	.	C	7.278	0.608452	0.14002	.	.	ENSG00000182963	ENST00000426548;ENST00000330514	D;D	0.97924	-4.61;-4.61	5.52	5.52	0.82312	.	0.237085	0.43747	D	0.000539	D	0.93301	0.7865	N	0.13043	0.29	0.31560	N	0.657666	B	0.09022	0.002	B	0.08055	0.003	D	0.90067	0.4160	10	0.30078	T	0.28	.	13.3967	0.60858	0.1572:0.8428:0.0:0.0	.	183	P36383	CXG1_HUMAN	S	183	ENSP00000411528:A183S;ENSP00000333193:A183S	ENSP00000333193:A183S	A	-	1	0	GJC1	40238165	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.994000	0.40757	2.581000	0.87130	0.514000	0.50259	GCA	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448661.1		-	ENST00000426548.1	Missense_Mutation	SNP	17 : 42882639 - 42882639 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1142	175
DNAH3	55567	broad.mit.edu	37	16	20974849	20974849	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20974849C>A	ENST00000261383.3	-	53	10356	c.10357G>T	c.(10357-10359)Gcc>Tcc	p.A3453S	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3453					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGGGGCCAGGCCGAGTCATAG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	77	83			NA	NA	16		NA											NA				20974849		2201	4300	6501	SO:0001583	missense			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486	55567	55567		Axonemal dyneins	2949	protein-coding gene	gene with protein product		603334	dynein, axonemal, heavy polypeptide 3		NA	9256245, 9373155	Standard	NM_017539	NM_017539	NA	Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10357G>T	16.37:g.20974849C>A	ENSP00000261383:p.Ala3453Ser	NA	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	0.218	-1.031049	0.02029	.	.	ENSG00000158486	ENST00000261383	T	0.08102	3.13	5.39	2.25	0.28309	Dynein heavy chain (1);	0.299368	0.30575	N	0.009337	T	0.02970	0.0088	N	0.04297	-0.235	0.21020	N	0.99981	B	0.11235	0.004	B	0.20384	0.029	T	0.46762	-0.9168	10	0.09338	T	0.73	.	5.3477	0.16018	0.2812:0.5656:0.0:0.1533	.	3453	Q8TD57	DYH3_HUMAN	S	3453	ENSP00000261383:A3453S	ENSP00000261383:A3453S	A	-	1	0	DNAH3	20882350	0.987000	0.35691	0.761000	0.31378	0.782000	0.44232	2.256000	0.43231	0.210000	0.20664	0.563000	0.77884	GCC	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207361.1		-	ENST00000261383.3	Missense_Mutation	SNP	16 : 20974849 - 20974849 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	225	65
SYNE1	23345	broad.mit.edu	37	6	152497616	152497616	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152497616C>A	ENST00000367255.5	-	130	24141	c.23540G>T	c.(23539-23541)aGc>aTc	p.S7847I	SYNE1_ENST00000423061.1_Missense_Mutation_p.S7776I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Missense_Mutation_p.S7459I|SYNE1_ENST00000448038.1_Missense_Mutation_p.S7776I|SYNE1_ENST00000265368.4_Missense_Mutation_p.S7847I|SYNE1_ENST00000356820.4_Missense_Mutation_p.S2371I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7847					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTTTCATGGCTGGCTTTAGC	0.443		NA								HNSCC(10;0.0054)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													298	281	287			NA	NA	6		NA											NA				152497616		2203	4300	6503	SO:0001583	missense			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018	23345	23345			17089	protein-coding gene	gene with protein product	myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1	608441	chromosome 6 open reading frame 98	C6orf98	NA	9872452, 10878022	Standard	NM_182961	NM_182961	NA	Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.23540G>T	6.37:g.152497616C>A	ENSP00000356224:p.Ser7847Ile	NA	O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906876	0.92107	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367251	T;T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000001	T	0.65533	0.2700	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0	T	0.67094	-0.5757	10	0.72032	D	0.01	.	19.9341	0.97130	0.0:1.0:0.0:0.0	.	7847;7847;7776;7776;49	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	I	7847;493;7776;7847;7776;7459;2371;9;769	ENSP00000356224:S7847I;ENSP00000356226:S493I;ENSP00000396024:S7776I;ENSP00000265368:S7847I;ENSP00000390975:S7776I;ENSP00000341887:S7459I;ENSP00000349276:S2371I;ENSP00000356220:S769I	ENSP00000265368:S7847I	S	-	2	0	SYNE1	152539309	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.681000	0.84073	2.711000	0.92665	0.563000	0.77884	AGC	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334755.2		-	ENST00000367255.5	Missense_Mutation	SNP	6 : 152497616 - 152497616 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1178	182
NFASC	23114	broad.mit.edu	37	1	204938111	204938111	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204938111G>A	ENST00000401399.1	+	9	1202		c.e9+1		NFASC_ENST00000404907.1_Splice_Site|NFASC_ENST00000339876.6_Splice_Site|NFASC_ENST00000367172.4_Splice_Site|NFASC_ENST00000513543.1_Splice_Site|NFASC_ENST00000338586.6_Splice_Site|NFASC_ENST00000338515.6_Splice_Site|NFASC_ENST00000367169.4_Splice_Site|NFASC_ENST00000403080.1_Splice_Site|NFASC_ENST00000360049.4_Splice_Site|NFASC_ENST00000539706.1_Splice_Site|NFASC_ENST00000367171.4_Splice_Site|NFASC_ENST00000404076.1_Splice_Site|NFASC_ENST00000367170.4_Splice_Site			O94856	NFASC_HUMAN	neurofascin	NA					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGAGTAAAGGGTACGTTGTGT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	67	66			NA	NA	1		NA											NA				204938111		2203	4300	6503	SO:0001630	splice_region_variant			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531	23114	23114		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	29866	protein-coding gene	gene with protein product		609145	neurofascin homolog (chicken)		NA	1377696, 8672144	Standard	NM_001005388	NM_015090	NA	Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.1003+1G>A	1.37:g.204938111G>A		NA	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	37	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945740	0.92593	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393;ENST00000367173	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6581	0.95851	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NFASC	203204734	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.722000	0.98770	2.741000	0.93983	0.650000	0.86243	.	NFASC-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131237.1	Intron	+	ENST00000401399.1	Splice_Site	SNP	1 : 204938111 - 204938111 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	181	13
ATP5J2-PTCD1	100526740	broad.mit.edu	37	7	99051675	99051675	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99051675G>A	ENST00000413834.1	-	2	144				ATP5J2_ENST00000466753.1_Intron|ATP5J2-PTCD1_ENST00000437572.1_Intron|CPSF4_ENST00000436336.2_Silent_p.P194P|CPSF4_ENST00000292476.5_Silent_p.P219P|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000441580.1_Silent_p.P141P|CPSF4_ENST00000451876.1_Silent_p.P161P			B4DJ38	B4DJ38_HUMAN	ATP5J2-PTCD1 readthrough	NA											NA						AGAGAACCCCGCAGGTCATCG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	160	155			NA	NA	7		NA											NA				99051675		2203	4300	6503	SO:0001627	intron_variant				CCDS56496.1	7q22.1	2011-02-21			ENSG00000248919	ENSG00000248919	100526740	100526740			38844	other	readthrough					NA		Standard	NM_001198879.1	NM_001198879	NA	Approved		uc011kiw.2		OTTHUMG00000160779	ENST00000413834.1:c.121+6033C>T	7.37:g.99051675G>A		NA		37	CCDS56496.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.28|11.28	1.591459|1.591459	0.28357|0.28357	.|.	.|.	ENSG00000160917|ENSG00000160917	ENST00000440514|ENST00000452047	.|T	.|0.32515	.|1.45	5.67|5.67	-1.46|-1.46	0.08800|0.08800	.|.	.|.	.|.	.|.	.|.	T|T	0.19287|0.19287	0.0463|0.0463	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.16541|0.16541	-1.0399|-1.0399	4|6	.|0.15952	.|T	.|0.53	-14.7418|-14.7418	4.8814|4.8814	0.13681|0.13681	0.4929:0.0963:0.3203:0.0905|0.4929:0.0963:0.3203:0.0905	.|.	.|.	.|.	.|.	T|H	101|130	.|ENSP00000392584:R130H	.|ENSP00000392584:R130H	A|R	+|+	1|2	0|0	CPSF4|CPSF4	98889611|98889611	0.081000|0.081000	0.21417|0.21417	0.953000|0.953000	0.39169|0.39169	0.788000|0.788000	0.44548|0.44548	-0.013000|-0.013000	0.12678|0.12678	-0.642000|-0.642000	0.05480|0.05480	-1.731000|-1.731000	0.00696|0.00696	GCA|CGC	ATP5J2-PTCD1-001	KNOWN	basic|appris_principal|readthrough_transcript|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362258.1		-	ENST00000413834.1	Intron	SNP	7 : 99051675 - 99051675 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	915	253
HIVEP1	3096	broad.mit.edu	37	6	12161698	12161698	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:12161698C>T	ENST00000379388.2	+	8	6846	c.6514C>T	c.(6514-6516)Cga>Tga	p.R2172*	HIVEP1_ENST00000541134.1_Nonsense_Mutation_p.R37*	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2172					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CAGTTATGAGCGATCTGGATA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	91	89			NA	NA	6		NA											NA				12161698		1948	4148	6096	SO:0001587	stop_gained			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951	3096	3096		Zinc fingers, C2H2-type	4920	protein-coding gene	gene with protein product		194540	human immunodeficiency virus type I enhancer-binding protein 1, zinc finger protein 40	ZNF40	NA	2037300	Standard	NM_002114	XR_241895	NA	Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.6514C>T	6.37:g.12161698C>T	ENSP00000368698:p.Arg2172*	NA	B2RTU3|Q14122|Q5MPB1|Q5VW60	37	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691961	0.88735	.	.	ENSG00000095951	ENST00000379388;ENST00000442081;ENST00000541134;ENST00000542327	.	.	.	5.77	2.63	0.31362	.	0.000000	0.31392	N	0.007736	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.1929	14.4025	0.67056	0.576:0.424:0.0:0.0	.	.	.	.	X	2172;99;37;154	.	ENSP00000368698:R2172X	R	+	1	2	HIVEP1	12269684	0.999000	0.42202	0.995000	0.50966	0.717000	0.41224	0.624000	0.24462	0.631000	0.30412	0.655000	0.94253	CGA	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039870.2		+	ENST00000379388.2	Nonsense_Mutation	SNP	6 : 12161698 - 12161698 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	582	107
ABHD3	171586	broad.mit.edu	37	18	19283700	19283700	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:19283700C>T	ENST00000289119.2	-	2	310	c.171G>A	c.(169-171)caG>caA	p.Q57Q	ABHD3_ENST00000578270.1_5'UTR|ABHD3_ENST00000579875.1_5'UTR|ABHD3_ENST00000580981.1_Silent_p.Q57Q	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	57						integral to membrane	carboxylesterase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						CGGTCACTAACTGGGGTTTCT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	52	52			NA	NA	18		NA											NA				19283700		2203	4300	6503	SO:0001819	synonymous_variant			AK024880	CCDS32802.1	18q11.1	2011-02-16			ENSG00000158201	ENSG00000158201	171586	171586		Abhydrolase domain containing	18718	protein-coding gene	gene with protein product		612197			NA		Standard		NM_138340	NA	Approved	LABH3	uc002ktl.2	Q8WU67		ENST00000289119.2:c.171G>A	18.37:g.19283700C>T		NA	B0YIV0|O43411	37	CCDS32802.1																																																																																			ABHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444757.1		-	ENST00000289119.2	Silent	SNP	18 : 19283700 - 19283700 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	301	46
CYLC1	1538	broad.mit.edu	37	X	83128385	83128385	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:83128385T>G	ENST00000329312.4	+	4	706	c.669T>G	c.(667-669)gaT>gaG	p.D223E		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	223					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CAAAGAAAGATTTGAAGAGGT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	26	27			NA	NA	X		NA											NA				83128385		2195	4284	6479	SO:0001583	missense			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035	1538	1538			2582	protein-coding gene	gene with protein product	cylicin 1	300768			NA	7737358, 8354692	Standard	NM_021118	NM_021118	NA	Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.669T>G	X.37:g.83128385T>G	ENSP00000331556:p.Asp223Glu	NA	A0AVQ8|Q5JQQ9	37	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	t	9.934	1.215624	0.22373	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.52754	0.65	3.21	-0.44	0.12261	.	.	.	.	.	T	0.47746	0.1462	L	0.43152	1.355	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.69479	0.964;0.964	T	0.42413	-0.9453	9	0.06891	T	0.86	-0.0289	5.5428	0.17047	0.0:0.4965:0.0:0.5035	.	223;223	P35663;F5H4V5	CYLC1_HUMAN;.	E	223	ENSP00000331556:D223E	ENSP00000331556:D223E	D	+	3	2	CYLC1	83015041	0.067000	0.21026	0.003000	0.11579	0.010000	0.07245	-0.100000	0.10990	-0.034000	0.13713	0.417000	0.27973	GAT	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057371.1		+	ENST00000329312.4	Missense_Mutation	SNP	X : 83128385 - 83128385 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	116	33
KIAA1755	85449	broad.mit.edu	37	20	36870077	36870077	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36870077G>T	ENST00000279024.4	-	3	727	c.456C>A	c.(454-456)gcC>gcA	p.A152A		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	152										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CACTGTTGATGGCCTCCAGCC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	107	107			NA	NA	20		NA											NA				36870077		2203	4300	6503	SO:0001819	synonymous_variant			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633	85449	85449			29372	protein-coding gene	gene with protein product					NA	11214970	Standard	NM_001029864	NM_001029864	NA	Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.456C>A	20.37:g.36870077G>T		NA	Q9C0A8	37	CCDS33467.1																																																																																			KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079144.3		-	ENST00000279024.4	Silent	SNP	20 : 36870077 - 36870077 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	514	15
TEX2	55852	broad.mit.edu	37	17	62290017	62290017	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62290017C>T	ENST00000258991.3	-	2	1645	c.1561G>A	c.(1561-1563)Gct>Act	p.A521T	TEX2_ENST00000584379.1_Missense_Mutation_p.A521T|TEX2_ENST00000583097.1_Missense_Mutation_p.A521T			Q8IWB9	TEX2_HUMAN	testis expressed 2	521					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TATTTATGAGCACTTGGTGGT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	158	159			NA	NA	17		NA											NA				62290017		2203	4300	6503	SO:0001583	missense			AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478	55852	55852			30884	protein-coding gene	gene with protein product	transmembrane protein 96		testis expressed sequence 2		NA	11214970	Standard	NM_018469	XM_005257507	NA	Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000258991.3:c.1561G>A	17.37:g.62290017C>T	ENSP00000258991:p.Ala521Thr	NA	Q6AHZ5|Q8N3L0|Q9C0C5	37	CCDS11658.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.476242	0.26511	.	.	ENSG00000136478	ENST00000258991	T	0.42513	0.97	6.17	6.17	0.99709	.	0.176192	0.50627	D	0.000104	T	0.33933	0.0880	L	0.56769	1.78	0.32707	N	0.512139	B;B	0.19331	0.035;0.02	B;B	0.19666	0.026;0.007	T	0.38478	-0.9659	10	0.02654	T	1	-15.5616	9.9759	0.41783	0.0:0.7834:0.1404:0.0761	.	521;521	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	T	521	ENSP00000258991:A521T	ENSP00000258991:A521T	A	-	1	0	TEX2	59643749	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.407000	0.34657	2.941000	0.99782	0.655000	0.94253	GCT	TEX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443743.1		-	ENST00000258991.3	Missense_Mutation	SNP	17 : 62290017 - 62290017 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	831	173
PIP5K1B	8395	broad.mit.edu	37	9	71555571	71555571	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71555571C>T	ENST00000265382.3	+	14	1672	c.1367C>T	c.(1366-1368)tCc>tTc	p.S456F	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.S456F	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	456						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		GCCCTGGGATCCCGACACAGG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													249	202	218			NA	NA	9		NA											NA				71555571		2203	4300	6503	SO:0001583	missense			U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242	8395	8395			8995	protein-coding gene	gene with protein product		602745			NA	9177790, 8841185	Standard	NM_003558	NM_003558	NA	Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.1367C>T	9.37:g.71555571C>T	ENSP00000265382:p.Ser456Phe	NA	A8K9L9|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	37	CCDS6624.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.872575	0.51695	.	.	ENSG00000107242	ENST00000541509;ENST00000377290;ENST00000265382;ENST00000419747	T;T	0.27890	1.67;1.64	5.78	5.78	0.91487	.	0.172614	0.53938	D	0.000054	T	0.34483	0.0899	L	0.53249	1.67	0.50171	D	0.999853	B	0.30455	0.28	B	0.28916	0.096	T	0.05402	-1.0887	10	0.40728	T	0.16	-0.1659	20.0065	0.97435	0.0:1.0:0.0:0.0	.	456	O14986	PI51B_HUMAN	F	456;456;456;403	ENSP00000438082:S456F;ENSP00000265382:S456F	ENSP00000265382:S456F	S	+	2	0	PIP5K1B	70745391	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.526000	0.67116	2.731000	0.93534	0.655000	0.94253	TCC	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052561.2		+	ENST00000265382.3	Missense_Mutation	SNP	9 : 71555571 - 71555571 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	900	153
GRM7	2917	broad.mit.edu	37	3	6903264	6903264	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:6903264C>T	ENST00000486284.1	+	1	463	c.189C>T	c.(187-189)agC>agT	p.S63S	GRM7_ENST00000402647.2_Silent_p.S63S|GRM7_ENST00000389336.4_Silent_p.S63S|GRM7_ENST00000357716.4_Silent_p.S63S|GRM7_ENST00000403881.1_Silent_p.S63S	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	63					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AGGGTCCCAGCGGAGTGCCCT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	22	21			NA	NA	3		NA											NA				6903264		2201	4298	6499	SO:0001819	synonymous_variant			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277	2917	2917		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4599	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 87	604101			NA	8288585, 8840028	Standard	NM_000844	NM_000844	NA	Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000486284.1:c.189C>T	3.37:g.6903264C>T		NA	Q8NFS2|Q8NFS3|Q8NFS4	37																																																																																				GRM7-015	PUTATIVE	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000354360.1		+	ENST00000486284.1	Silent	SNP	3 : 6903264 - 6903264 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	98	12
UNC5A	90249	broad.mit.edu	37	5	176306485	176306485	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176306485G>A	ENST00000329542.4	+	14	2633	c.2359G>A	c.(2359-2361)Gac>Aac	p.D787N	UNC5A_ENST00000261961.3_Missense_Mutation_p.D747N	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	787	Death.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTCCACCTGGACAGGTGGGC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	43	40			NA	NA	5		NA											NA				176306485		2202	4295	6497	SO:0001583	missense			AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763	90249	90249		Immunoglobulin superfamily / I-set domain containing	12567	protein-coding gene	gene with protein product		607869	unc5 (C.elegans homolog) a		NA		Standard	XM_030300	XM_006714927	NA	Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.2359G>A	5.37:g.176306485G>A	ENSP00000332737:p.Asp787Asn	NA	B2RXE6|Q8TF26|Q96GP4	37	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407567	0.83340	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	D;D	0.86297	-2.1;-2.1	5.06	5.06	0.68205	Death (2);DEATH-like (2);	0.059778	0.64402	D	0.000003	D	0.86053	0.5841	L	0.45581	1.43	0.51482	D	0.999926	B	0.28350	0.208	B	0.37091	0.241	T	0.83186	-0.0086	10	0.35671	T	0.21	-50.0007	17.1651	0.86814	0.0:0.0:1.0:0.0	.	787	Q6ZN44	UNC5A_HUMAN	N	787;747	ENSP00000332737:D787N;ENSP00000261961:D747N	ENSP00000261961:D747N	D	+	1	0	UNC5A	176239091	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.816000	0.86201	2.630000	0.89119	0.491000	0.48974	GAC	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372166.1		+	ENST00000329542.4	Missense_Mutation	SNP	5 : 176306485 - 176306485 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	773	35
CDC42BPG	55561	broad.mit.edu	37	11	64599088	64599088	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64599088G>A	ENST00000342711.5	-	28	3192	c.3193C>T	c.(3193-3195)Cag>Tag	p.Q1065*	CDC42BPG_ENST00000491280.1_5'UTR	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1065	PH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						AGCAGCCGCTGCAGCTCACCC	0.692		NA									OREG0004016	type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	29	29			NA	NA	11		NA											NA				64599088		2198	4294	6492	SO:0001587	stop_gained			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219	55561	55561		Pleckstrin homology (PH) domain containing	29829	protein-coding gene	gene with protein product		613991			NA	9341881, 15194684	Standard	XM_290516	NM_017525	NA	Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.3193C>T	11.37:g.64599088G>A	ENSP00000345133:p.Gln1065*	1077	O00565	37	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	G	40	8.391436	0.98791	.	.	ENSG00000171219	ENST00000342711	.	.	.	3.85	3.85	0.44370	.	0.000000	0.38111	N	0.001805	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	13.6836	0.62502	0.0:0.0:1.0:0.0	.	.	.	.	X	1065	.	ENSP00000345133:Q1065X	Q	-	1	0	CDC42BPG	64355664	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	5.325000	0.65869	2.167000	0.68274	0.313000	0.20887	CAG	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000105352.4		-	ENST00000342711.5	Nonsense_Mutation	SNP	11 : 64599088 - 64599088 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	212	40
SF3B3	23450	broad.mit.edu	37	16	70589013	70589013	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70589013C>T	ENST00000302516.5	+	13	1825	c.1614C>T	c.(1612-1614)acC>acT	p.T538T		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	538					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AGTGGAAGACCCCTGGAAAGA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													194	185	188			NA	NA	16		NA											NA				70589013		2198	4300	6498	SO:0001819	synonymous_variant			AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091	23450	23450			10770	protein-coding gene	gene with protein product		605592	splicing factor 3b, subunit 3, 130kD		NA	10490618	Standard	NM_012426	NM_012426	NA	Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.1614C>T	16.37:g.70589013C>T		NA	Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	37	CCDS10894.1																																																																																			SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268972.1		+	ENST00000302516.5	Silent	SNP	16 : 70589013 - 70589013 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	465	72
FLRT1	23769	broad.mit.edu	37	11	63884481	63884481	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63884481C>T	ENST00000246841.3	+	2	1785	c.742C>T	c.(742-744)Cag>Tag	p.Q248*	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	220					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CAGCCGCCTACAGAACCTCAC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	27	28			NA	NA	11		NA											NA				63884481		2201	4297	6498	SO:0001587	stop_gained			AF169675	CCDS8057.1	11q13.1	2014-03-03					23769	23769		Fibronectin type III domain containing	3760	protein-coding gene	gene with protein product		604806			NA	10644439, 24482476	Standard	NM_013280	NM_013280	NA	Approved	MGC21624, SPG68	uc001nyi.1	Q9NZU1		ENST00000246841.3:c.742C>T	11.37:g.63884481C>T	ENSP00000246841:p.Gln248*	NA	Q8WVA2	37	CCDS8057.1	.	.	.	.	.	.	.	.	.	.	C	42	9.548870	0.99202	.	.	ENSG00000126500	ENST00000246841	.	.	.	5.56	3.63	0.41609	.	0.290368	0.31392	N	0.007727	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-24.6211	14.9428	0.71006	0.0:0.7278:0.2722:0.0	.	.	.	.	X	248	.	ENSP00000246841:Q248X	Q	+	1	0	FLRT1	63641057	0.997000	0.39634	1.000000	0.80357	0.368000	0.29767	2.333000	0.43912	0.664000	0.31047	-0.314000	0.08810	CAG	FLRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396287.2		+	ENST00000246841.3	Nonsense_Mutation	SNP	11 : 63884481 - 63884481 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	157	36
COL24A1	255631	broad.mit.edu	37	1	86591325	86591325	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86591325C>T	ENST00000370571.2	-	3	1060	c.694G>A	c.(694-696)Gca>Aca	p.A232T	COL24A1_ENST00000436319.1_Missense_Mutation_p.A232T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	232					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CAGTAGTCTGCAGATGCTTCT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	59	59			NA	NA	1		NA											NA				86591325		1961	4155	6116	SO:0001583	missense			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502	255631	255631		Collagens	20821	protein-coding gene	gene with protein product		610025			NA		Standard	NM_152890	NM_152890	NA	Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.694G>A	1.37:g.86591325C>T	ENSP00000359603:p.Ala232Thr	NA	C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	37	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.963121	0.34659	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.02177	4.41;4.41	5.82	1.28	0.21552	Concanavalin A-like lectin/glucanase (1);	0.451445	0.16444	N	0.214147	T	0.00695	0.0023	L	0.39147	1.195	0.36043	D	0.840222	P;B	0.43287	0.802;0.068	B;B	0.36959	0.237;0.022	T	0.64516	-0.6389	10	0.27785	T	0.31	.	4.8693	0.13624	0.4501:0.3586:0.1216:0.0697	.	232;232	F8WDM8;Q17RW2	.;COOA1_HUMAN	T	232	ENSP00000359603:A232T;ENSP00000392531:A232T	ENSP00000359603:A232T	A	-	1	0	COL24A1	86363913	0.995000	0.38212	0.984000	0.44739	0.694000	0.40290	0.403000	0.20982	-0.042000	0.13535	0.655000	0.94253	GCA	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029335.4		-	ENST00000370571.2	Missense_Mutation	SNP	1 : 86591325 - 86591325 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	284	65
PLXND1	23129	broad.mit.edu	37	3	129281956	129281956	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129281956T>C	ENST00000324093.4	-	26	4827	c.4649A>G	c.(4648-4650)aAc>aGc	p.N1550S	PLXND1_ENST00000393239.1_Missense_Mutation_p.N1550S	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1550					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GGCCTCGATGTTCTCCCGCAG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(97;366 1484 3738 22084 39045)							NA				0													55	51	52			NA	NA	3		NA											NA				129281956		2203	4300	6503	SO:0001583	missense			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399	23129	23129		Plexins	9107	protein-coding gene	gene with protein product		604282			NA	12412018	Standard	NM_015103	NM_015103	NA	Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.4649A>G	3.37:g.129281956T>C	ENSP00000317128:p.Asn1550Ser	NA	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	37	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.038040	0.75617	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.10668	2.85;2.85	5.25	5.25	0.73442	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.167597	0.51477	D	0.000094	T	0.18923	0.0454	N	0.16790	0.44	0.58432	D	0.999999	P;D	0.89917	0.945;1.0	P;D	0.87578	0.511;0.998	T	0.08554	-1.0716	10	0.42905	T	0.14	.	15.1774	0.72924	0.0:0.0:0.0:1.0	.	145;1550	B4DRU3;Q9Y4D7	.;PLXD1_HUMAN	S	1550	ENSP00000317128:N1550S;ENSP00000376931:N1550S	ENSP00000317128:N1550S	N	-	2	0	PLXND1	130764646	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.830000	0.86741	1.988000	0.58038	0.379000	0.24179	AAC	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356132.4		-	ENST00000324093.4	Missense_Mutation	SNP	3 : 129281956 - 129281956 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	285	60
MAPRE1	22919	broad.mit.edu	37	20	31424452	31424452	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31424452G>A	ENST00000375571.5	+	4	419	c.280G>A	c.(280-282)Gac>Aac	p.D94N		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	94	CH.				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						AATTCCTGTGGACAAATTAGT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	46	45			NA	NA	20		NA											NA				31424452		2203	4299	6502	SO:0001583	missense			U24166	CCDS13208.1	20q11.1-q11.3	2013-01-17			ENSG00000101367	ENSG00000101367	22919	22919			6890	protein-coding gene	gene with protein product	adenomatous polyposis coli-binding protein EB1	603108			NA	7606712, 9724749, 11470413	Standard	NM_012325	NM_012325	NA	Approved	EB1	uc002wyh.3	Q15691	OTTHUMG00000032228	ENST00000375571.5:c.280G>A	20.37:g.31424452G>A	ENSP00000364721:p.Asp94Asn	NA	B2R6I7|E1P5M8|Q3KQS8	37	CCDS13208.1	.	.	.	.	.	.	.	.	.	.	G	32	5.138938	0.94560	.	.	ENSG00000101367	ENST00000375571	D	0.94931	-3.56	4.45	4.45	0.53987	Calponin homology domain (4);	0.000000	0.85682	D	0.000000	D	0.94991	0.8379	L	0.33792	1.035	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	D	0.94204	0.7452	10	0.35671	T	0.21	-11.7265	16.6237	0.84936	0.0:0.0:1.0:0.0	.	94	Q15691	MARE1_HUMAN	N	94	ENSP00000364721:D94N	ENSP00000364721:D94N	D	+	1	0	MAPRE1	30888113	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.422000	0.97458	2.465000	0.83290	0.655000	0.94253	GAC	MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078647.2		+	ENST00000375571.5	Missense_Mutation	SNP	20 : 31424452 - 31424452 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	310	47
TJP2	9414	broad.mit.edu	37	9	71869243	71869243	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71869243C>T	ENST00000377245.4	+	23	3734	c.3526C>T	c.(3526-3528)Cgc>Tgc	p.R1176C	TJP2_ENST00000348208.4_Missense_Mutation_p.R1029C|TJP2_ENST00000453658.2_Missense_Mutation_p.R1006C|TJP2_ENST00000535702.1_Missense_Mutation_p.R1143C|TJP2_ENST00000539225.1_Missense_Mutation_p.R1207C	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	1176					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						ACACTCCAAGCGCGGTTACTA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	88	89			NA	NA	9		NA											NA				71869243		2203	4300	6503	SO:0001583	missense			L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139	9414	9414			11828	protein-coding gene	gene with protein product	Friedreich ataxia region gene X104 (tight junction protein ZO-2), zona occludens 2	607709	deafness, autosomal dominant 51	DFNA51	NA	7951235, 20602916	Standard	NM_201629	NM_001170630	NA	Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.3526C>T	9.37:g.71869243C>T	ENSP00000366453:p.Arg1176Cys	NA	A2A3H9|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	37	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548194	0.45383	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000535702;ENST00000539225	T;T;T;T;T	0.18810	2.58;2.43;2.57;2.19;2.46	5.56	5.56	0.83823	.	0.280739	0.31134	N	0.008197	T	0.43211	0.1237	L	0.57536	1.79	0.31688	N	0.642221	D;D;D;D	0.89917	0.999;0.995;1.0;0.999	P;P;D;P	0.77004	0.832;0.707;0.989;0.708	T	0.49331	-0.8951	10	0.66056	D	0.02	.	15.2602	0.73615	0.1488:0.8512:0.0:0.0	.	1207;1143;1029;1176	F5H301;F5H886;Q9UDY2-2;Q9UDY2	.;.;.;ZO2_HUMAN	C	1006;1176;1029;1143;1207	ENSP00000392178:R1006C;ENSP00000366453:R1176C;ENSP00000345893:R1029C;ENSP00000442090:R1143C;ENSP00000438262:R1207C	ENSP00000345893:R1029C	R	+	1	0	TJP2	71059063	1.000000	0.71417	0.070000	0.20053	0.025000	0.11179	3.244000	0.51399	2.620000	0.88729	0.655000	0.94253	CGC	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052572.2		+	ENST00000377245.4	Missense_Mutation	SNP	9 : 71869243 - 71869243 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	451	102
SYNE2	23224	broad.mit.edu	37	14	64604534	64604534	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64604534C>T	ENST00000554584.1	+	77	14478	c.14427C>T	c.(14425-14427)caC>caT	p.H4809H	SYNE2_ENST00000344113.4_Silent_p.H4892H|SYNE2_ENST00000555002.1_Silent_p.H1526H|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Silent_p.H1277H|SYNE2_ENST00000358025.3_Silent_p.H4892H|SYNE2_ENST00000394768.2_Silent_p.H1277H			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4779					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.H4892H(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GTGGAAAACACGCCCGGCTTT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											75	73	73			NA	NA	14		NA											NA				64604534		2203	4300	6503	SO:0001819	synonymous_variant			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654	23224	23224			17084	protein-coding gene	gene with protein product	nuclear envelope spectrin repeat-2, nucleus and actin connecting element	608442			NA	10231032, 10878022	Standard	NM_182914	NM_182910	NA	Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000554584.1:c.14427C>T	14.37:g.64604534C>T		NA	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	37																																																																																				SYNE2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000411905.1		+	ENST00000554584.1	Silent	SNP	14 : 64604534 - 64604534 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	453	91
NPRL2	10641	broad.mit.edu	37	3	50385991	50385991	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50385991G>T	ENST00000232501.3	-	7	1125	c.687C>A	c.(685-687)taC>taA	p.Y229*	NPRL2_ENST00000493465.1_5'UTR	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	229					negative regulation of kinase activity		protein binding|protein kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						CAACGCCGTAGTACCTGAGAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	131	138			NA	NA	3		NA											NA				50385991		2203	4300	6503	SO:0001587	stop_gained			AF040708	CCDS2826.1	3p21.3	2010-03-30	2010-03-30	2010-03-30	ENSG00000114388	ENSG00000114388	10641	10641			24969	protein-coding gene	gene with protein product		607072	tumor suppressor candidate 4	TUSC4	NA	11085536	Standard	NM_006545	NM_006545	NA	Approved	NPR2L, NPR2	uc003daj.1	Q8WTW4	OTTHUMG00000156864	ENST00000232501.3:c.687C>A	3.37:g.50385991G>T	ENSP00000232501:p.Tyr229*	NA	A8K831|Q6FGS2|Q9Y249|Q9Y497	37	CCDS2826.1	.	.	.	.	.	.	.	.	.	.	G	38	6.645978	0.97730	.	.	ENSG00000114388	ENST00000232501	.	.	.	5.65	2.81	0.32909	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.9752	10.0896	0.42439	0.2228:0.0:0.7772:0.0	.	.	.	.	X	229	.	ENSP00000232501:Y229X	Y	-	3	2	NPRL2	50360995	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.347000	0.52200	0.285000	0.22329	0.655000	0.94253	TAC	NPRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346299.1		-	ENST00000232501.3	Nonsense_Mutation	SNP	3 : 50385991 - 50385991 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	302	63
NOTCH4	4855	broad.mit.edu	37	6	32190464	32190464	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32190464C>A	ENST00000375023.3	-	3	413	c.275G>T	c.(274-276)aGc>aTc	p.S92I		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	92	EGF-like 2.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGAGGGAGAGCTGGGGAGCCC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	76	74			NA	NA	6		NA											NA				32190464		2203	4300	6503	SO:0001583	missense				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301	4855	4855		Ankyrin repeat domain containing	7884	protein-coding gene	gene with protein product		164951	Notch (Drosophila) homolog 4, Notch homolog 4 (Drosophila)	INT3	NA	7835890	Standard		NM_004557	NA	Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.275G>T	6.37:g.32190464C>A	ENSP00000364163:p.Ser92Ile	NA	B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	37	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	7.381	0.628773	0.14257	.	.	ENSG00000204301	ENST00000375023	T	0.11821	2.74	3.12	3.12	0.35913	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.987505	0.08238	N	0.976480	T	0.06962	0.0177	N	0.14661	0.345	0.33880	D	0.636028	D;P	0.58970	0.984;0.836	P;B	0.50754	0.649;0.329	T	0.19811	-1.0294	10	0.87932	D	0	.	9.9622	0.41704	0.0:1.0:0.0:0.0	.	92;92	Q6P3V5;Q99466	.;NOTC4_HUMAN	I	92	ENSP00000364163:S92I	ENSP00000364163:S92I	S	-	2	0	NOTCH4	32298442	0.003000	0.15002	0.006000	0.13384	0.033000	0.12548	1.745000	0.38278	2.051000	0.60960	0.555000	0.69702	AGC	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076045.2		-	ENST00000375023.3	Missense_Mutation	SNP	6 : 32190464 - 32190464 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	524	95
ACLY	47	broad.mit.edu	37	17	40040492	40040492	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40040492C>T	ENST00000352035.2	-	19	2238	c.2108G>A	c.(2107-2109)cGc>cAc	p.R703H	ACLY_ENST00000537919.1_Missense_Mutation_p.R432H|ACLY_ENST00000353196.1_Missense_Mutation_p.R693H|ACLY_ENST00000393896.2_Missense_Mutation_p.R693H|ACLY_ENST00000590151.1_Missense_Mutation_p.R703H	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	703					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GTCCTGATAGCGTAACACATG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(64;807 1396 15971 30971)							NA				0													89	79	82			NA	NA	17		NA											NA				40040492		2203	4300	6503	SO:0001583	missense			X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	47	47	2.3.3.8		115	protein-coding gene	gene with protein product	ATP citrate synthase	108728			NA	1371749, 8088842	Standard	NM_001096	NM_001096	NA	Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.2108G>A	17.37:g.40040492C>T	ENSP00000253792:p.Arg703His	NA	Q13037|Q9BRL0	37	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969705	0.92855	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	5.69	5.69	0.88448	Succinyl-CoA synthetase-like (1);Citrate synthase-like, core (1);ATP-citrate lyase/succinyl-CoA ligase (1);	0.000000	0.85682	D	0.000000	D	0.91294	0.7255	H	0.96015	3.755	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.954;1.0;1.0;1.0;0.999	D	0.93454	0.6804	10	0.87932	D	0	.	19.8073	0.96535	0.0:1.0:0.0:0.0	.	432;747;757;693;703	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	H	703;757;693;432;693	ENSP00000253792:R703H;ENSP00000345398:R693H;ENSP00000445349:R432H;ENSP00000377474:R693H	ENSP00000253792:R703H	R	-	2	0	ACLY	37294018	1.000000	0.71417	0.998000	0.56505	0.588000	0.36517	7.704000	0.84595	2.685000	0.91497	0.455000	0.32223	CGC	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257465.1		-	ENST00000352035.2	Missense_Mutation	SNP	17 : 40040492 - 40040492 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	194	49
NAGK	55577	broad.mit.edu	37	2	71305565	71305565	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71305565G>T	ENST00000418807.3	+	9	973	c.809G>T	c.(808-810)aGg>aTg	p.R270M	NAGK_ENST00000443938.2_Missense_Mutation_p.R317M|NAGK_ENST00000244204.6_Missense_Mutation_p.R321M|NAGK_ENST00000443872.2_Missense_Mutation_p.R173M|NAGK_ENST00000455662.2_Missense_Mutation_p.R367M			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	321					N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	CTAGGGGCCAGGCACATCGGG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	32	33			NA	NA	2		NA											NA				71305565		2203	4294	6497	SO:0001583	missense			AJ242910	CCDS33220.1, CCDS33220.2	2p24.3-p24.1	2008-02-05			ENSG00000124357	ENSG00000124357	55577	55577	2.7.1.59		17174	protein-coding gene	gene with protein product		606828			NA	10824116	Standard		NM_017567	NA	Approved	GNK	uc002shp.4	Q9UJ70	OTTHUMG00000153239	ENST00000418807.3:c.809G>T	2.37:g.71305565G>T	ENSP00000396070:p.Arg270Met	NA	Q53HD5|Q6IA84|Q9BS29|Q9BVP0|Q9NV37	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	18.91|18.91|18.91	3.723219|3.723219|3.723219	0.68959|0.68959|0.68959	.|.|.	.|.|.	ENSG00000124357|ENSG00000124357|ENSG00000124357	ENST00000443938|ENST00000524537|ENST00000244204;ENST00000455662;ENST00000418807	.|.|T;T;T	.|.|0.48201	.|.|1.41;1.38;0.82	4.82|4.82|4.82	0.615|0.615|0.615	0.17608|0.17608|0.17608	.|.|.	.|.|0.352887	.|.|0.31834	.|.|N	.|.|0.006984	T|T|T	0.39200|0.39200|0.39200	0.1069|0.1069|0.1069	M|M|M	0.61703|0.61703|0.61703	1.905|1.905|1.905	0.49687|0.49687|0.49687	D|D|D	0.99981|0.99981|0.99981	.|.|B	.|.|0.30439	.|.|0.279	.|.|B	.|.|0.32022	.|.|0.139	T|T|T	0.30534|0.30534|0.30534	-0.9975|-0.9975|-0.9975	5|5|10	.|.|0.66056	.|.|D	.|.|0.02	-13.0177|-13.0177|-13.0177	4.3929|4.3929|4.3929	0.11350|0.11350|0.11350	0.3032:0.0:0.5351:0.1617|0.3032:0.0:0.5351:0.1617|0.3032:0.0:0.5351:0.1617	.|.|.	.|.|321	.|.|Q9UJ70	.|.|NAGK_HUMAN	C|H|M	339|85|321;367;270	.|.|ENSP00000244204:R321M;ENSP00000389087:R367M;ENSP00000396070:R270M	.|.|ENSP00000244204:R321M	G|Q|R	+|+|+	1|3|2	0|2|0	NAGK|NAGK|NAGK	71159073|71159073|71159073	0.997000|0.997000|0.997000	0.39634|0.39634|0.39634	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	0.697000|0.697000|0.697000	0.25556|0.25556|0.25556	0.559000|0.559000|0.559000	0.29153|0.29153|0.29153	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GGC|CAG|AGG	NAGK-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000330337.6		+	ENST00000418807.3	Missense_Mutation	SNP	2 : 71305565 - 71305565 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	172	36
TICRR	90381	broad.mit.edu	37	15	90166933	90166933	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90166933C>T	ENST00000268138.7	+	20	3497	c.3392C>T	c.(3391-3393)cCg>cTg	p.P1131L	TICRR_ENST00000560985.1_Missense_Mutation_p.P1130L|KIF7_ENST00000558928.1_Intron					TOPBP1-interacting checkpoint and replication regulator	NA											NA						CCACAAACTCCGTTGTATACT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	LEU/PRO	0,3696		0,0,1848	165	163	163		3392	2.2	0	15		163	1,8177		0,1,4088	no	missense	C15orf42	NM_152259.3	98	0,1,5936	TT,TC,CC	NA	0.0122,0.0,0.0084	benign	1131/1911	90166933	1,11873	1848	4089	5937	SO:0001583	missense			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534	90381	90381			28704	protein-coding gene	gene with protein product	TOPBP1-interacting replication-stimulating protein, SLD3 homolog (S. cerevisiae)	613298	chromosome 15 open reading frame 42	C15orf42	NA	20116089, 20080954	Standard	NM_152259	NM_152259	NA	Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.3392C>T	15.37:g.90166933C>T	ENSP00000268138:p.Pro1131Leu	NA		37	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	C	7.448	0.642108	0.14451	0.0	1.22E-4	ENSG00000140534	ENST00000268138	T	0.09073	3.02	5.27	2.25	0.28309	.	0.208995	0.41938	N	0.000787	T	0.05456	0.0144	L	0.28740	0.885	0.09310	N	0.999999	B	0.17667	0.023	B	0.15052	0.012	T	0.39354	-0.9618	10	0.27785	T	0.31	-3.4785	5.3512	0.16036	0.1595:0.6522:0.0:0.1883	.	1131	Q7Z2Z1	TICRR_HUMAN	L	1131	ENSP00000268138:P1131L	ENSP00000268138:P1131L	P	+	2	0	C15orf42	87967937	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.593000	0.23999	0.165000	0.19558	-0.217000	0.12591	CCG	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000312856.1		+	ENST00000268138.7	Missense_Mutation	SNP	15 : 90166933 - 90166933 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1203	209
IMPG1	3617	broad.mit.edu	37	6	76660430	76660430	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76660430T>C	ENST00000369950.3	-	13	1862	c.1673A>G	c.(1672-1674)tAt>tGt	p.Y558C	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	558					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AGTGGTGATATACTGTAAAGC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(37;839 1141 2599 26037)							NA				0													92	81	85			NA	NA	6		NA											NA				76660430		2203	4300	6503	SO:0001583	missense			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706	3617	3617			6055	protein-coding gene	gene with protein product		602870	sialoprotein associated with cones and rods	SPACR	NA		Standard	NM_001563	NM_001282368	NA	Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1673A>G	6.37:g.76660430T>C	ENSP00000358966:p.Tyr558Cys	NA	A6NNZ6|O43686|O95094|Q9BWZ1	37	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.678671	0.68042	.	.	ENSG00000112706	ENST00000369950	T	0.22134	1.97	5.67	3.19	0.36642	.	0.225394	0.31415	N	0.007695	T	0.29061	0.0722	M	0.74258	2.255	0.46061	D	0.998847	D	0.71674	0.998	P	0.62740	0.906	T	0.06427	-1.0827	10	0.59425	D	0.04	.	11.2619	0.49089	0.2428:0.0:0.0:0.7572	.	558	Q17R60	IMPG1_HUMAN	C	558	ENSP00000358966:Y558C	ENSP00000358966:Y558C	Y	-	2	0	IMPG1	76717150	1.000000	0.71417	0.003000	0.11579	0.467000	0.32768	4.689000	0.61723	0.374000	0.24650	0.528000	0.53228	TAT	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041288.1		-	ENST00000369950.3	Missense_Mutation	SNP	6 : 76660430 - 76660430 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	318	52
NR2F2	7026	broad.mit.edu	37	15	96875553	96875553	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:96875553G>T	ENST00000394166.3	+	1	1608	c.219G>T	c.(217-219)caG>caT	p.Q73H	NR2F2_ENST00000421109.2_Intron	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	73	Poly-Gln.				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			AGCAGCAGCAGCAGCAACACA	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	19	21			NA	NA	15		NA											NA				96875553		2192	4295	6487	SO:0001583	missense			M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551	7026	7026		Nuclear hormone receptors	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2	NA	8530078, 11544252	Standard		NM_021005	NA	Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.219G>T	15.37:g.96875553G>T	ENSP00000377721:p.Gln73His	NA	B6ZGU1|Q03754	37	CCDS10375.1	.	.	.	.	.	.	.	.	.	.	G	9.308	1.054866	0.19907	.	.	ENSG00000185551	ENST00000394166	D	0.93604	-3.25	4.53	-0.248	0.13015	Zinc finger, NHR/GATA-type (1);	0.234402	0.30277	N	0.009992	D	0.83954	0.5366	N	0.22421	0.69	0.80722	D	1	P	0.44578	0.838	B	0.35550	0.205	T	0.78262	-0.2272	10	0.44086	T	0.13	.	10.2126	0.43150	0.3553:0.0:0.6447:0.0	.	73	P24468	COT2_HUMAN	H	73	ENSP00000377721:Q73H	ENSP00000377721:Q73H	Q	+	3	2	NR2F2	94676557	.	.	0.995000	0.50966	0.297000	0.27493	.	.	0.041000	0.15688	-0.379000	0.06801	CAG	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313534.1		+	ENST00000394166.3	Missense_Mutation	SNP	15 : 96875553 - 96875553 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	68	9
ANAPC5	51433	broad.mit.edu	37	12	121783678	121783678	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121783678C>A	ENST00000261819.3	-	4	675	c.554G>T	c.(553-555)aGa>aTa	p.R185I	ANAPC5_ENST00000541887.1_Missense_Mutation_p.R185I|ANAPC5_ENST00000441917.2_Missense_Mutation_p.R86I|ANAPC5_ENST00000536366.1_Missense_Mutation_p.R64I|ANAPC5_ENST00000344395.4_Missense_Mutation_p.R86I	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	185					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTCCATTTTTCTTTCACCCTC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													309	294	299			NA	NA	12		NA											NA				121783678		2203	4300	6503	SO:0001583	missense			AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053	51433	51433		Anaphase promoting complex subunits	15713	protein-coding gene	gene with protein product		606948			NA	9469815	Standard		NM_016237	NA	Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.554G>T	12.37:g.121783678C>A	ENSP00000261819:p.Arg185Ile	NA	Q8N4H7|Q9BQD4	37	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.652843	0.29336	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000344395;ENST00000536366;ENST00000544442	T;T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1;2.1	5.42	4.52	0.55395	.	0.300312	0.41605	D	0.000858	T	0.13030	0.0316	N	0.14661	0.345	0.47737	D	0.999503	B;B	0.14805	0.002;0.011	B;B	0.15052	0.008;0.012	T	0.07520	-1.0768	10	0.18276	T	0.48	.	14.5878	0.68339	0.0:0.9286:0.0:0.0714	.	86;185	E9PFB2;Q9UJX4	.;APC5_HUMAN	I	86;185;185;86;64;86	ENSP00000415061:R86I;ENSP00000439875:R185I;ENSP00000261819:R185I;ENSP00000343787:R86I;ENSP00000445310:R64I;ENSP00000440800:R86I	ENSP00000261819:R185I	R	-	2	0	ANAPC5	120268061	0.984000	0.35163	0.799000	0.32177	0.990000	0.78478	3.369000	0.52365	1.251000	0.43983	0.655000	0.94253	AGA	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402582.1		-	ENST00000261819.3	Missense_Mutation	SNP	12 : 121783678 - 121783678 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1032	220
RASGEF1C	255426	broad.mit.edu	37	5	179545622	179545622	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179545622C>T	ENST00000393371.2	-	9	1366	c.1070G>A	c.(1069-1071)aGc>aAc	p.S357N	RASGEF1C_ENST00000522500.1_Missense_Mutation_p.S206N|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.S357N			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	357	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCTCGGCTGCTGTGGGCCGT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	47	44			NA	NA	5		NA											NA				179545622		2202	4298	6500	SO:0001583	missense			AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090	255426	255426			27400	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_175062	XM_006714839	NA	Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.1070G>A	5.37:g.179545622C>T	ENSP00000377037:p.Ser357Asn	NA	D3DWQ7|Q7Z4T0|Q8NA49	37	CCDS4452.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678280	0.47886	.	.	ENSG00000146090	ENST00000361132;ENST00000393371;ENST00000522500	T;T;T	0.30981	1.51;1.51;1.51	4.18	3.31	0.37934	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.31167	0.0788	L	0.51422	1.61	0.49798	D	0.999829	B	0.29766	0.256	B	0.35607	0.206	T	0.16630	-1.0396	10	0.56958	D	0.05	.	11.3716	0.49702	0.0:0.9071:0.0:0.0929	.	357	Q8N431	RGF1C_HUMAN	N	357;357;206	ENSP00000354963:S357N;ENSP00000377037:S357N;ENSP00000429114:S206N	ENSP00000354963:S357N	S	-	2	0	RASGEF1C	179478228	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	5.189000	0.65098	1.064000	0.40671	0.313000	0.20887	AGC	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253506.2		-	ENST00000393371.2	Missense_Mutation	SNP	5 : 179545622 - 179545622 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	680	120
FAM166A	401565	broad.mit.edu	37	9	140139905	140139905	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140139905G>T	ENST00000344774.4	-	3	430	c.376C>A	c.(376-378)Ctg>Atg	p.L126M	FAM166A_ENST00000388932.2_Missense_Mutation_p.L126M	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	126										kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						CCTGCAGGCAGCAGAATCTGT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	99	94			NA	NA	9		NA											NA				140139905		2203	4300	6503	SO:0001583	missense			BC132916	CCDS35186.1	9q34.3	2008-08-08			ENSG00000188163	ENSG00000188163	401565	401565			33818	protein-coding gene	gene with protein product					NA		Standard	NM_001001710	XR_245332	NA	Approved		uc004cmi.1	Q6J272	OTTHUMG00000159545	ENST00000344774.4:c.376C>A	9.37:g.140139905G>T	ENSP00000344729:p.Leu126Met	NA	A6NND9|Q8N830	37	CCDS35186.1	.	.	.	.	.	.	.	.	.	.	G	3.635	-0.074671	0.07184	.	.	ENSG00000188163	ENST00000344774;ENST00000388932;ENST00000484720	.	.	.	5.23	3.29	0.37713	.	0.996122	0.08132	N	0.993040	T	0.42810	0.1219	M	0.67953	2.075	0.09310	N	1	P	0.48911	0.917	B	0.41988	0.372	T	0.23190	-1.0195	9	0.38643	T	0.18	-2.6202	8.3479	0.32284	0.0:0.1705:0.6527:0.1767	.	126	Q6J272	F166A_HUMAN	M	126;126;153	.	ENSP00000344729:L126M	L	-	1	2	FAM166A	139259726	0.001000	0.12720	0.002000	0.10522	0.005000	0.04900	0.677000	0.25262	0.520000	0.28426	0.561000	0.74099	CTG	FAM166A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356125.1		-	ENST00000344774.4	Missense_Mutation	SNP	9 : 140139905 - 140139905 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	762	33
OLFM1	10439	broad.mit.edu	37	9	137990133	137990133	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137990133C>T	ENST00000371796.3	+	4	491	c.377C>T	c.(376-378)gCg>gTg	p.A126V	OLFM1_ENST00000252854.4_Splice_Site_p.A135V|OLFM1_ENST00000371793.3_Splice_Site_p.A153V	NM_001282612.1	NP_001269541.1	Q99784	NOE1_HUMAN	olfactomedin 1	153					nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		ACCTTGCAGGCGATAAAAGCG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	82	78	79		404	5.1	1	9		79	0,8598		0,0,4299	no	missense-near-splice	OLFM1	NM_014279.4	64	0,1,6501	TT,TC,CC	NA	0.0,0.0227,0.0077	benign	135/468	137990133	1,13003	2203	4299	6502	SO:0001630	splice_region_variant			AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558	10439	10439			17187	protein-coding gene	gene with protein product	pancortin	605366			NA	9039501	Standard	NM_014279	NM_006334	NA	Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371796.3:c.376-1C>T	9.37:g.137990133C>T		NA	Q53XZ8|Q6IMJ4|Q969S7|Q99452	37		.	.	.	.	.	.	.	.	.	.	C	16.78	3.216445	0.58452	2.27E-4	0.0	ENSG00000130558	ENST00000252854;ENST00000339720;ENST00000371796;ENST00000539529;ENST00000371793;ENST00000539877	D;T;D;T;D;D	0.87103	-2.21;1.44;-2.21;0.45;-2.21;-1.94	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.80232	0.4585	N	0.19112	0.55	0.80722	D	1	P;B	0.39862	0.692;0.375	B;B	0.36808	0.233;0.104	T	0.81994	-0.0677	10	0.48119	T	0.1	.	18.9219	0.92529	0.0:1.0:0.0:0.0	.	153;135	Q99784;Q6IMJ8	NOE1_HUMAN;.	V	135;142;126;70;153;50	ENSP00000252854:A135V;ENSP00000340318:A142V;ENSP00000360861:A126V;ENSP00000444296:A70V;ENSP00000360858:A153V;ENSP00000443806:A50V	ENSP00000252854:A135V	A	+	2	0	OLFM1	137129954	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.695000	0.68279	2.546000	0.85860	0.637000	0.83480	GCG	OLFM1-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000054973.1	Missense_Mutation	+	ENST00000371796.3	Splice_Site	SNP	9 : 137990133 - 137990133 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	258	31
SMG6	23293	broad.mit.edu	37	17	1968799	1968799	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1968799G>A	ENST00000263073.6	-	17	4060	c.4010C>T	c.(4009-4011)tCc>tTc	p.S1337F	SMG6_ENST00000536871.2_Missense_Mutation_p.S429F|SMG6_ENST00000354901.4_Missense_Mutation_p.S429F|SMG6_ENST00000573166.1_5'UTR|SMG6_ENST00000544865.1_Missense_Mutation_p.S1306F	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	NA	PINc.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GAAGGCGATGGATTCGAGTTC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(59;28 1088 11621 25887 46638 50814)							NA				0													54	50	51			NA	NA	17		NA											NA				1968799		2203	4300	6503	SO:0001583	missense			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366	23293	23293			17809	protein-coding gene	gene with protein product	EST1 telomerase component homolog A (S. cerevisiae)	610963	chromosome 17 open reading frame 31, smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)	C17orf31	NA	12676087, 12699629	Standard		NM_017575	NA	Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.4010C>T	17.37:g.1968799G>A	ENSP00000263073:p.Ser1337Phe	NA	O94837|Q86VH6|Q9UF60	37	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	G	31	5.093095	0.94149	.	.	ENSG00000070366	ENST00000263073;ENST00000544865;ENST00000354901;ENST00000536871	T;T;T	0.21734	2.8;2.8;1.99	5.56	5.56	0.83823	Nucleotide binding protein, PINc (1);	0.000000	0.85682	D	0.000000	T	0.52175	0.1718	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55774	-0.8088	10	0.87932	D	0	-5.4885	19.5351	0.95247	0.0:0.0:1.0:0.0	.	1337	Q86US8	EST1A_HUMAN	F	1337;1306;248;429	ENSP00000263073:S1337F;ENSP00000443920:S1306F;ENSP00000440283:S429F	ENSP00000263073:S1337F	S	-	2	0	SMG6	1915549	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.430000	0.97488	2.640000	0.89533	0.655000	0.94253	TCC	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437826.3		-	ENST00000263073.6	Missense_Mutation	SNP	17 : 1968799 - 1968799 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	190	35
KIAA1211	57482	broad.mit.edu	37	4	57179456	57179456	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57179456G>A	ENST00000504228.1	+	5	553	c.448G>A	c.(448-450)Gct>Act	p.A150T	KIAA1211_ENST00000264229.6_Missense_Mutation_p.A150T|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A143T			Q6ZU35	K1211_HUMAN	KIAA1211	150										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CCTGGCCATCGCTCGCCTGGA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	140	137			NA	NA	4		NA											NA				57179456		2052	4173	6225	SO:0001583	missense			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265	57482	57482			29219	protein-coding gene	gene with protein product					NA	10574462, 11230166	Standard	NM_020722	NM_020722	NA	Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.448G>A	4.37:g.57179456G>A	ENSP00000423366:p.Ala150Thr	NA	Q9NTE2|Q9NTP8|Q9ULK9	37	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.301535	0.60195	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.14640	2.49;2.49;2.52	5.4	3.64	0.41730	.	.	.	.	.	T	0.16471	0.0396	M	0.69823	2.125	0.36295	D	0.856633	P;P;P	0.51653	0.947;0.861;0.861	B;B;B	0.42319	0.383;0.123;0.123	T	0.17837	-1.0356	9	0.52906	T	0.07	-15.0899	7.9937	0.30256	0.1378:0.1383:0.7239:0.0	.	143;143;150	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	T	150;150;143;60	ENSP00000264229:A150T;ENSP00000423366:A150T;ENSP00000444006:A143T	ENSP00000264229:A150T	A	+	1	0	KIAA1211	56874213	0.999000	0.42202	0.978000	0.43139	0.951000	0.60555	3.380000	0.52448	1.261000	0.44149	0.491000	0.48974	GCT	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362097.2		+	ENST00000504228.1	Missense_Mutation	SNP	4 : 57179456 - 57179456 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	877	28
TGM5	9333	broad.mit.edu	37	15	43527084	43527084	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43527084C>T	ENST00000220420.5	-	11	1765	c.1758G>A	c.(1756-1758)caG>caA	p.Q586Q	TGM5_ENST00000349114.4_Silent_p.Q504Q	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	586					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TTGACAGGTACTGGCTGTACT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	122	125			NA	NA	15		NA											NA				43527084		2203	4299	6502	SO:0001819	synonymous_variant			AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055	9333	9333		Transglutaminases	11781	protein-coding gene	gene with protein product		603805			NA	9452468, 11390390	Standard	NM_004245	NM_201631	NA	Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.1758G>A	15.37:g.43527084C>T		NA	O43549|Q0VF40|Q9UEZ4	37	CCDS32212.1																																																																																			TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432257.1		-	ENST00000220420.5	Silent	SNP	15 : 43527084 - 43527084 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	382	62
DSCAM	1826	broad.mit.edu	37	21	41385243	41385243	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41385243G>A	ENST00000400454.1	-	33	6234	c.5757C>T	c.(5755-5757)agC>agT	p.S1919S		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1919				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCAGGTCCCTGCTGGTGCCTG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(134;970 1778 1785 21664 32388)							NA				0													53	53	53			NA	NA	21		NA											NA				41385243		1977	4152	6129	SO:0001819	synonymous_variant			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587	1826	1826		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	3039	protein-coding gene	gene with protein product		602523			NA	9426258	Standard	NM_001389	NM_001271534	NA	Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5757C>T	21.37:g.41385243G>A		NA	O60468	37	CCDS42929.1																																																																																			DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195029.1		-	ENST00000400454.1	Silent	SNP	21 : 41385243 - 41385243 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	337	17
ZNF473	25888	broad.mit.edu	37	19	50549918	50549918	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50549918G>A	ENST00000595661.1	+	6	2713	c.2218G>A	c.(2218-2220)Ggc>Agc	p.G740S	ZNF473_ENST00000270617.3_Missense_Mutation_p.G740S|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.G740S|ZNF473_ENST00000445728.3_Missense_Mutation_p.G728S			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	740					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GAAGGCCTTCGGCCTGAGTGC	0.512		NA									OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	81	79			NA	NA	19		NA											NA				50549918		2203	4300	6503	SO:0001583	missense			AB032967	CCDS33077.1	19q13.33	2013-01-08					25888	25888		Zinc fingers, C2H2-type, -	23239	protein-coding gene	gene with protein product					NA	11782445	Standard	XM_046390	NM_015428	NA	Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.2218G>A	19.37:g.50549918G>A	ENSP00000472808:p.Gly740Ser	970	A8K8T7|Q9ULS9|Q9Y4Q7	37	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	G	0.193	-1.051748	0.01981	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.07114	3.22;3.22;3.22	4.17	-1.13	0.09775	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.670270	0.13095	N	0.414241	T	0.01800	0.0057	N	0.01122	-1.005	0.09310	N	1	B	0.16802	0.019	B	0.13407	0.009	T	0.44174	-0.9345	10	0.02654	T	1	-0.0068	5.1114	0.14811	0.3631:0.0:0.475:0.1619	.	740	Q8WTR7	ZN473_HUMAN	S	740;740;728	ENSP00000270617:G740S;ENSP00000375697:G740S;ENSP00000388961:G728S	ENSP00000270617:G740S	G	+	1	0	ZNF473	55241730	0.000000	0.05858	0.002000	0.10522	0.027000	0.11550	-0.786000	0.04623	-0.277000	0.09193	-0.312000	0.09012	GGC	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464833.1		+	ENST00000595661.1	Missense_Mutation	SNP	19 : 50549918 - 50549918 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	409	74
LGALS4	3960	broad.mit.edu	37	19	39294407	39294407	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39294407C>T	ENST00000307751.4	-	6	992	c.515G>A	c.(514-516)tGc>tAc	p.C172Y		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	172					cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CTGTTGATGGCAATGTCCGGG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	54	54			NA	NA	19		NA											NA				39294407		2203	4300	6503	SO:0001583	missense				CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747	3960	3960		Lectins, galactoside-binding	6565	protein-coding gene	gene with protein product	galectin 4	602518			NA	8063692	Standard	NM_006149	NM_006149	NA	Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.515G>A	19.37:g.39294407C>T	ENSP00000302100:p.Cys172Tyr	NA		37	CCDS12521.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.513905	0.00975	.	.	ENSG00000171747	ENST00000307751	T	0.04758	3.56	4.97	-9.95	0.00446	.	4.500960	0.00166	N	0.000001	T	0.01730	0.0055	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42137	-0.9469	10	0.02654	T	1	2.524	3.8296	0.08868	0.0939:0.1841:0.4266:0.2954	.	172	P56470	LEG4_HUMAN	Y	172	ENSP00000302100:C172Y	ENSP00000302100:C172Y	C	-	2	0	LGALS4	43986247	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.699000	0.01906	-1.700000	0.01414	-1.291000	0.01355	TGC	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462641.1		-	ENST00000307751.4	Missense_Mutation	SNP	19 : 39294407 - 39294407 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	155	24
CASC4	113201	broad.mit.edu	37	15	44695169	44695169	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44695169T>C	ENST00000299957.6	+	9	1456	c.1157T>C	c.(1156-1158)gTa>gCa	p.V386A	RP11-516C1.1_ENST00000558047.1_RNA|CASC4_ENST00000360824.3_Intron|CASC4_ENST00000345795.2_Intron	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	386						integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		GATGGTAACGTAGGTGAGTAT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	109	120			NA	NA	15		NA											NA				44695169		2198	4298	6496	SO:0001583	missense			AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734	113201	113201			24892	protein-coding gene	gene with protein product					NA	10497265	Standard	NM_138423	NM_138423	NA	Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000299957.6:c.1157T>C	15.37:g.44695169T>C	ENSP00000299957:p.Val386Ala	NA	Q6UY45|Q96EM1	37	CCDS10108.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.299781	0.81136	.	.	ENSG00000166734	ENST00000299957;ENST00000416522	.	.	.	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000001	T	0.73745	0.3626	M	0.61703	1.905	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.77557	0.99;0.99	T	0.68930	-0.5279	9	0.07813	T	0.8	.	16.3948	0.83586	0.0:0.0:0.0:1.0	.	386;386	G5E934;Q6P4E1	.;CASC4_HUMAN	A	386;365	.	ENSP00000299957:V386A	V	+	2	0	CASC4	42482461	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.993000	0.88291	2.326000	0.78906	0.533000	0.62120	GTA	CASC4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253815.1		+	ENST00000299957.6	Missense_Mutation	SNP	15 : 44695169 - 44695169 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	232	48
UPK1A	11045	broad.mit.edu	37	19	36168745	36168745	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36168745A>G	ENST00000222275.2	+	6	680	c.680A>G	c.(679-681)gAc>gGc	p.D227G	UPK1A_ENST00000379013.2_Missense_Mutation_p.T260A	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	227					epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CACGCCATCGACAGCTACACG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	65	68			NA	NA	19		NA											NA				36168745		2203	4300	6503	SO:0001583	missense			AF085807	CCDS12470.1, CCDS62640.1	19q13.1	2013-02-14			ENSG00000105668	ENSG00000105668	11045	11045		Tetraspanins	12577	protein-coding gene	gene with protein product		611557			NA	9846985, 10404304	Standard		NM_007000	NA	Approved	TSPAN21	uc002oaw.3	O00322	OTTHUMG00000048115	ENST00000222275.2:c.680A>G	19.37:g.36168745A>G	ENSP00000222275:p.Asp227Gly	NA	Q3KNU5|Q3KNU6	37	CCDS12470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.50|16.50	3.140171|3.140171	0.56936|0.56936	.|.	.|.	ENSG00000105668|ENSG00000105668	ENST00000222275|ENST00000379013	T|T	0.79247|0.06768	-1.25|3.26	5.43|5.43	5.43|5.43	0.79202|0.79202	Tetraspanin, EC2 domain (1);|.	.|0.948870	.|0.08490	.|U	.|0.938098	T|T	0.08403|0.08403	0.0209|0.0209	N|N	0.22421|0.22421	0.69|0.69	0.34787|0.34787	D|D	0.735353|0.735353	B|B	0.22851|0.31817	0.076|0.341	B|B	0.28011|0.30782	0.085|0.12	T|T	0.21008|0.21008	-1.0258|-1.0258	9|10	0.42905|0.87932	T|D	0.14|0	-6.5984|-6.5984	11.853|11.853	0.52422|0.52422	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	227|260	O00322|O00322-2	UPK1A_HUMAN|.	G|A	227|260	ENSP00000222275:D227G|ENSP00000368298:T260A	ENSP00000222275:D227G|ENSP00000368298:T260A	D|T	+|+	2|1	0|0	UPK1A|UPK1A	40860585|40860585	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	5.958000|5.958000	0.70330|0.70330	2.054000|2.054000	0.61138|0.61138	0.379000|0.379000	0.24179|0.24179	GAC|ACA	UPK1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109486.3		+	ENST00000222275.2	Missense_Mutation	SNP	19 : 36168745 - 36168745 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	201	17
DPY19L4	286148	broad.mit.edu	37	8	95802019	95802019	+	Nonsense_Mutation	SNP	C	C	T	rs145854417	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95802019C>T	ENST00000414645.2	+	19	2152	c.2053C>T	c.(2053-2055)Cga>Tga	p.R685*		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	685						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					AAAATATGGGCGATTTTGTCA	0.294		NA											C	2	9e-04	NA	NA	2184	NA	0.9997	,	,	NA	3e-04	0.0026	NA	NA	0.0011	0.9085	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				0								C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	92	102	99		2053	2.3	0.9	8	dbSNP_134	99	3,8593	3.0+/-9.4	0,3,4295	yes	stop-gained	DPY19L4	NM_181787.2		0,4,6497	TT,TC,CC	NA	0.0349,0.0227,0.0308		685/724	95802019	4,12998	2203	4298	6501	SO:0001587	stop_gained				CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162	286148	286148			27829	protein-coding gene	gene with protein product		613895			NA		Standard	NM_181787	NM_181787	NA	Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.2053C>T	8.37:g.95802019C>T	ENSP00000389630:p.Arg685*	NA	Q6ZW32|Q6ZW42|Q7Z329	37	CCDS34924.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	37	6.156228	0.97334	2.27E-4	3.49E-4	ENSG00000156162	ENST00000414645	.	.	.	5.19	2.33	0.28932	.	0.060745	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.1931	14.719	0.69291	0.3827:0.6173:0.0:0.0	.	.	.	.	X	685	.	ENSP00000389630:R685X	R	+	1	2	DPY19L4	95871195	1.000000	0.71417	0.941000	0.38009	0.989000	0.77384	1.520000	0.35899	0.238000	0.21222	0.557000	0.71058	CGA	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379339.1		+	ENST00000414645.2	Nonsense_Mutation	SNP	8 : 95802019 - 95802019 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	645	90
MED25	81857	broad.mit.edu	37	19	50321657	50321657	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50321657T>A	ENST00000312865.6	+	1	112	c.59T>A	c.(58-60)tTt>tAt	p.F20Y	MED25_ENST00000538643.1_Missense_Mutation_p.F20Y	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	20	Interaction with the Mediator complex.			F -> S (in Ref. 1; AAM20739).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		GACGTGGTGTTTGTGATTGAG	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(51;894 1657 37868)							NA				0													47	44	45			NA	NA	19		NA											NA				50321657		2203	4300	6503	SO:0001583	missense			AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973	81857	81857			28845	protein-coding gene	gene with protein product		610197	mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)		NA	9110174, 11230166	Standard	NM_030973	NM_030973	NA	Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.59T>A	19.37:g.50321657T>A	ENSP00000326767:p.Phe20Tyr	NA	A8K095|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	37	CCDS33075.1	.	.	.	.	.	.	.	.	.	.	T	31	5.063493	0.93898	.	.	ENSG00000104973	ENST00000355584;ENST00000377077;ENST00000312881;ENST00000312865;ENST00000456294;ENST00000538643;ENST00000377070;ENST00000542221;ENST00000544580	T;T	0.81163	1.83;-1.46	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	D	0.85383	0.5684	M	0.67397	2.05	0.23813	N	0.996771	D;D	0.58268	0.982;0.982	P;P	0.57846	0.828;0.828	T	0.78861	-0.2037	10	0.72032	D	0.01	.	12.039	0.53442	0.0:0.0:0.0:1.0	.	20;20	B9TX30;Q71SY5	.;MED25_HUMAN	Y	20	ENSP00000326767:F20Y;ENSP00000437496:F20Y	ENSP00000326767:F20Y	F	+	2	0	MED25	55013469	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.474000	0.60203	2.091000	0.63221	0.533000	0.62120	TTT	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465316.1		+	ENST00000312865.6	Missense_Mutation	SNP	19 : 50321657 - 50321657 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	227	37
NNT	23530	broad.mit.edu	37	5	43659279	43659279	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43659279A>T	ENST00000264663.5	+	17	2682	c.2461A>T	c.(2461-2463)Act>Tct	p.T821S	NNT_ENST00000344920.4_Missense_Mutation_p.T821S|NNT_ENST00000512996.2_Missense_Mutation_p.T690S	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	821					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	CTAGGGTGTGACTTTGACAGC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	147	147			NA	NA	5		NA											NA				43659279		2203	4300	6503	SO:0001583	missense			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	23530	23530	1.6.1.1		7863	protein-coding gene	gene with protein product		607878			NA	9271681, 9524818	Standard	NM_182977	NM_182977	NA	Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.2461A>T	5.37:g.43659279A>T	ENSP00000264663:p.Thr821Ser	NA	Q16796|Q2TB60|Q8N3V4	37	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	A	17.76	3.469504	0.63625	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.91407	-2.84;-2.84;-2.84	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.93805	0.8019	M	0.90019	3.08	0.80722	D	1	P	0.51449	0.945	P	0.51582	0.674	D	0.92962	0.6390	10	0.10902	T	0.67	-26.4641	16.3742	0.83379	1.0:0.0:0.0:0.0	.	821	Q13423	NNTM_HUMAN	S	336;821;821;690	ENSP00000264663:T821S;ENSP00000343873:T821S;ENSP00000426343:T690S	ENSP00000264663:T821S	T	+	1	0	NNT	43695036	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	8.962000	0.93254	2.263000	0.75096	0.533000	0.62120	ACT	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214026.1		+	ENST00000264663.5	Missense_Mutation	SNP	5 : 43659279 - 43659279 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	888	165
APLF	200558	broad.mit.edu	37	2	68753207	68753207	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68753207G>A	ENST00000303795.4	+	6	808	c.637G>A	c.(637-639)Gga>Aga	p.G213R		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	213					double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						TGTAATCCAGGGAAGTGGAAA	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	58	57			NA	NA	2		NA											NA				68753207		2203	4300	6503	SO:0001583	missense			BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621	200558	200558			28724	protein-coding gene	gene with protein product	XRCC1-interacting protein 1, zinc finger, CX5CX6HX5H motif containing 1	611035	chromosome 2 open reading frame 13	C2orf13	NA	18474613, 18077224, 17353262	Standard	NM_173545	NM_173545	NA	Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.637G>A	2.37:g.68753207G>A	ENSP00000307004:p.Gly213Arg	NA	A8K476|Q53P47|Q53PB9|Q53QU0	37	CCDS1888.1	.	.	.	.	.	.	.	.	.	.	g	1.081	-0.666915	0.03428	.	.	ENSG00000169621	ENST00000303795	T	0.22743	1.94	4.29	-0.604	0.11626	.	1.283240	0.04864	N	0.444746	T	0.12902	0.0313	L	0.28274	0.84	0.09310	N	1	B;B	0.13594	0.008;0.001	B;B	0.13407	0.009;0.001	T	0.29119	-1.0022	10	0.07030	T	0.85	.	7.258	0.26187	0.5238:0.0:0.4762:0.0	.	213;213	F8WET0;Q8IW19	.;APLF_HUMAN	R	213	ENSP00000307004:G213R	ENSP00000307004:G213R	G	+	1	0	APLF	68606711	0.010000	0.17322	0.050000	0.19076	0.897000	0.52465	0.484000	0.22308	-0.120000	0.11809	0.585000	0.79938	GGA	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251759.1		+	ENST00000303795.4	Missense_Mutation	SNP	2 : 68753207 - 68753207 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	76
LHCGR	3973	broad.mit.edu	37	2	48921388	48921388	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48921388C>A	ENST00000294954.7	-	10	943	c.922G>T	c.(922-924)Gta>Tta	p.V308L	LHCGR_ENST00000403273.1_Missense_Mutation_p.V308L|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_Missense_Mutation_p.V308L|LHCGR_ENST00000405626.1_Intron|LHCGR_ENST00000344775.3_Missense_Mutation_p.V246L	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	308					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	ACTTTCCTTACTGTGCTTTCA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	97	107			NA	NA	2		NA											NA				48921388		2202	4295	6497	SO:0001583	missense				CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039	3973	3973		GPCR / Class A : Gonadotropin and TSH receptors	6585	protein-coding gene	gene with protein product		152790	hypergonadotropic hypogonadism	HHG	NA		Standard	NM_000233.3	NM_000233	NA	Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.922G>T	2.37:g.48921388C>A	ENSP00000294954:p.Val308Leu	NA	Q14751|Q15996|Q9UEW9	37	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.588934	0.28357	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000403273;ENST00000401907	T;T;T;T	0.79247	-0.87;-0.79;-1.25;-1.0	5.39	5.39	0.77823	.	0.699661	0.15057	N	0.282989	T	0.60117	0.2244	N	0.13235	0.315	0.27726	N	0.944958	B	0.06786	0.001	B	0.04013	0.001	T	0.46992	-0.9151	9	.	.	.	.	9.5701	0.39422	0.0:0.9001:0.0:0.0999	.	308	P22888	LSHR_HUMAN	L	246;308;308;308	ENSP00000344301:V246L;ENSP00000294954:V308L;ENSP00000385847:V308L;ENSP00000385406:V308L	.	V	-	1	0	LHCGR	48774892	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	1.451000	0.35145	2.521000	0.84997	0.563000	0.77884	GTA	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251364.4		-	ENST00000294954.7	Missense_Mutation	SNP	2 : 48921388 - 48921388 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	84	9
C2CD2L	9854	broad.mit.edu	37	11	118983078	118983078	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118983078C>A	ENST00000528586.1	+	4	374	c.304C>A	c.(304-306)Ctg>Atg	p.L102M	C2CD2L_ENST00000336702.3_Missense_Mutation_p.L354M			O14523	C2C2L_HUMAN	C2CD2-like	354						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CCTCAAAGTGCTGAGGAGCAG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	49	47			NA	NA	11		NA											NA				118983078		2200	4295	6495	SO:0001583	missense			AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375	9854	9854			29000	protein-coding gene	gene with protein product			transmembrane protein 24	TMEM24	NA	15289880	Standard	NM_014807	XM_005271738	NA	Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.304C>A	11.37:g.118983078C>A	ENSP00000433600:p.Leu102Met	NA	Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	37		.	.	.	.	.	.	.	.	.	.	C	16.69	3.193660	0.58017	.	.	ENSG00000172375	ENST00000336702;ENST00000528586	T;T	0.39997	1.05;1.05	5.23	5.23	0.72850	C2 calcium/lipid-binding domain, CaLB (1);	0.248717	0.34200	N	0.004165	T	0.40347	0.1113	L	0.27053	0.805	0.40008	D	0.975241	P;P	0.37158	0.585;0.585	P;P	0.48425	0.577;0.577	T	0.19160	-1.0314	10	0.31617	T	0.26	-18.7603	11.3936	0.49827	0.0:0.9181:0.0:0.0819	.	354;354	O14523;O14523-2	C2C2L_HUMAN;.	M	354;102	ENSP00000338885:L354M;ENSP00000433600:L102M	ENSP00000338885:L354M	L	+	1	2	C2CD2L	118488288	0.996000	0.38824	1.000000	0.80357	0.972000	0.66771	0.738000	0.26158	2.731000	0.93534	0.591000	0.81541	CTG	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000388199.2		+	ENST00000528586.1	Missense_Mutation	SNP	11 : 118983078 - 118983078 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	268	40
PRX	57716	broad.mit.edu	37	19	40904649	40904649	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40904649C>T	ENST00000291825.7	-	6	527	c.259G>A	c.(259-261)Gcc>Acc	p.A87T	PRX_ENST00000324001.7_Missense_Mutation_p.A87T	NM_020956.2	NP_066007.1	Q9BXM0	PRAX_HUMAN	periaxin	87	PDZ.				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TAAGGCTCGGCGCATTGCAGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	62	65			NA	NA	19		NA											NA				40904649		2203	4300	6503	SO:0001583	missense			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227	57716	57716			13797	protein-coding gene	gene with protein product		605725			NA	10839370, 9143514	Standard	NM_020956	NM_181882	NA	Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000291825.7:c.259G>A	19.37:g.40904649C>T	ENSP00000291825:p.Ala87Thr	NA	Q9BXL9|Q9HCF2	37	CCDS12556.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177345	0.78564	.	.	ENSG00000105227	ENST00000324001;ENST00000291825;ENST00000341562	T;T	0.04015	3.73;3.73	5.18	5.18	0.71444	PDZ/DHR/GLGF (2);	0.055231	0.64402	D	0.000001	T	0.16041	0.0386	L	0.46819	1.47	0.53005	D	0.999968	D;D	0.76494	0.997;0.999	P;D	0.66847	0.715;0.947	T	0.00249	-1.1879	10	0.66056	D	0.02	-21.7664	17.4638	0.87627	0.0:1.0:0.0:0.0	.	87;87	Q9BXM0-2;Q9BXM0	.;PRAX_HUMAN	T	87	ENSP00000326018:A87T;ENSP00000291825:A87T	ENSP00000291825:A87T	A	-	1	0	PRX	45596489	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	4.163000	0.58183	2.433000	0.82419	0.561000	0.74099	GCC	PRX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462581.1		-	ENST00000291825.7	Missense_Mutation	SNP	19 : 40904649 - 40904649 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	391	59
TTN	7273	broad.mit.edu	37	2	179417271	179417271	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179417271G>A	ENST00000589042.1	-	335	90580	c.90356C>T	c.(90355-90357)cCa>cTa	p.P30119L	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P28478L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P21179L|TTN_ENST00000460472.2_Missense_Mutation_p.P21054L|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P27551L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P21246L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28478	Fibronectin type-III 119.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTGTAATTGGCCCAATAGT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	69	70			NA	NA	2		NA											NA				179417271		1908	4124	6032	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.90356C>T	2.37:g.179417271G>A	ENSP00000467141:p.Pro30119Leu	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.088870	0.55968	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67698	-0.28;-0.06;-0.11;-0.09	5.76	5.76	0.90799	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85239	0.5651	M	0.88775	2.98	0.80722	D	1	D;D;D;D	0.89917	0.998;0.998;0.998;1.0	P;P;P;D	0.69307	0.905;0.905;0.905;0.963	D	0.86867	0.2033	9	0.87932	D	0	.	20.3242	0.98691	0.0:0.0:1.0:0.0	.	21054;21179;21246;28478	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	27551;21054;21246;21179;21051	ENSP00000343764:P27551L;ENSP00000434586:P21054L;ENSP00000340554:P21246L;ENSP00000352154:P21179L	ENSP00000340554:P21246L	P	-	2	0	TTN	179125517	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.956000	0.87863	2.882000	0.98803	0.655000	0.94253	CCA	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179417271 - 179417271 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	217	34
RAI14	26064	broad.mit.edu	37	5	34803869	34803869	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:34803869G>T	ENST00000265109.3	+	5	596	c.309G>T	c.(307-309)agG>agT	p.R103S	RAI14_ENST00000428746.2_Missense_Mutation_p.R103S|RAI14_ENST00000503673.1_Missense_Mutation_p.R103S|RAI14_ENST00000506376.1_Missense_Mutation_p.R95S|RAI14_ENST00000397449.1_Missense_Mutation_p.R96S|RAI14_ENST00000512629.1_Missense_Mutation_p.R103S|RAI14_ENST00000515799.1_Missense_Mutation_p.R106S|RAI14_ENST00000507276.1_3'UTR	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	103						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AATGCATCAGGAAGCTGCTTC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	51	51			NA	NA	5		NA											NA				34803869		2203	4300	6503	SO:0001583	missense			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560	26064	26064		Ankyrin repeat domain containing	14873	protein-coding gene	gene with protein product	novel retinal pigment epithelial	606586			NA	11042181	Standard	NM_015577	NM_015577	NA	Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.309G>T	5.37:g.34803869G>T	ENSP00000265109:p.Arg103Ser	NA	Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	37	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559349	0.65538	.	.	ENSG00000039560	ENST00000265109;ENST00000514527;ENST00000513974;ENST00000512629;ENST00000428746;ENST00000514873;ENST00000503673;ENST00000504052;ENST00000512305;ENST00000514036;ENST00000515799;ENST00000508315;ENST00000512625;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	5.93	5.93	0.95920	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.59169	0.2174	L	0.45352	1.415	0.43756	D	0.996265	B;B;B;B	0.23806	0.073;0.09;0.091;0.09	B;B;B;B	0.26770	0.033;0.055;0.073;0.055	T	0.54043	-0.8352	9	0.46703	T	0.11	-7.3379	18.5214	0.90954	0.0:0.0:1.0:0.0	.	95;103;106;103	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	S	103;103;103;103;103;103;103;103;103;103;106;103;103;95;96	ENSP00000265109:R103S;ENSP00000424879:R103S;ENSP00000422112:R103S;ENSP00000422377:R103S;ENSP00000388725:R103S;ENSP00000421424:R103S;ENSP00000422942:R103S;ENSP00000422515:R103S;ENSP00000422114:R103S;ENSP00000424502:R103S;ENSP00000427123:R106S;ENSP00000426770:R103S;ENSP00000425115:R103S;ENSP00000423854:R95S;ENSP00000380591:R96S	ENSP00000265109:R103S	R	+	3	2	RAI14	34839626	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	5.180000	0.65048	2.814000	0.96858	0.655000	0.94253	AGG	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366786.1		+	ENST00000265109.3	Missense_Mutation	SNP	5 : 34803869 - 34803869 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	110	22
CARD11	84433	broad.mit.edu	37	7	2974175	2974175	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2974175G>A	ENST00000396946.4	-	10	1833	c.1430C>T	c.(1429-1431)tCt>tTt	p.S477F		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	477					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CGAGGTGGAAGAATCGTCAGC	0.577		NA	Mis		DLBCL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		7	7p22	84433	caspase recruitment domain family, member 11		L	0													113	97	102			NA	NA	7		NA											NA				2974175		2203	4300	6503	SO:0001583	missense			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286	84433	84433			16393	protein-coding gene	gene with protein product	card-maguk protein 1, bcl10-interacting maguk protein 3	607210			NA	11278692, 11356195	Standard	NM_032415	NM_032415	NA	Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1430C>T	7.37:g.2974175G>A	ENSP00000380150:p.Ser477Phe	NA	A4D1Z7|Q2NKN7|Q548H3	37	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	9.434	1.086310	0.20390	.	.	ENSG00000198286	ENST00000396946	T	0.53423	0.62	5.22	5.22	0.72569	.	0.447184	0.25369	N	0.031174	T	0.26629	0.0651	N	0.08118	0	0.27585	N	0.949457	B	0.18166	0.026	B	0.14023	0.01	T	0.10405	-1.0631	10	0.25106	T	0.35	-15.0704	11.2701	0.49133	0.0835:0.0:0.9165:0.0	.	477	Q9BXL7	CAR11_HUMAN	F	477	ENSP00000380150:S477F	ENSP00000380150:S477F	S	-	2	0	CARD11	2940701	0.809000	0.29036	0.108000	0.21378	0.170000	0.22686	2.543000	0.45752	2.458000	0.83093	0.561000	0.74099	TCT	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059344.4		-	ENST00000396946.4	Missense_Mutation	SNP	7 : 2974175 - 2974175 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	250	38
CCIN	881	broad.mit.edu	37	9	36169849	36169849	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36169849G>A	ENST00000335119.2	+	1	461	c.350G>A	c.(349-351)cGa>cAa	p.R117Q		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	117	BTB.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	p.R117L(1)|p.R117Q(1)		breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			CCACGCCTTCGAGTTCACTGT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	large_intestine(1)|lung(1)											123	106	112			NA	NA	9		NA											NA				36169849		2203	4300	6503	SO:0001583	missense			Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972	881	881		BTB/POZ domain containing	1568	protein-coding gene	gene with protein product		603960			NA	7641791	Standard	NM_005893	NM_005893	NA	Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.350G>A	9.37:g.36169849G>A	ENSP00000334996:p.Arg117Gln	NA	Q9BXG7	37	CCDS6599.1	.	.	.	.	.	.	.	.	.	.	G	9.452	1.090890	0.20471	.	.	ENSG00000185972	ENST00000335119	T	0.70749	-0.51	5.26	3.4	0.38934	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.136685	0.32273	N	0.006338	T	0.51787	0.1695	L	0.28014	0.82	0.09310	N	0.999998	B	0.19331	0.035	B	0.09377	0.004	T	0.31336	-0.9947	10	0.25106	T	0.35	.	7.6467	0.28325	0.1909:0.0:0.8091:0.0	.	117	Q13939	CALI_HUMAN	Q	117	ENSP00000334996:R117Q	ENSP00000334996:R117Q	R	+	2	0	CCIN	36159849	0.121000	0.22262	0.890000	0.34922	0.900000	0.52787	0.886000	0.28241	1.358000	0.45922	-0.448000	0.05591	CGA	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052418.1		+	ENST00000335119.2	Missense_Mutation	SNP	9 : 36169849 - 36169849 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	448	27
SPIN3	169981	broad.mit.edu	37	X	57021054	57021054	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:57021054G>A	ENST00000374919.3	-	2	649	c.327C>T	c.(325-327)gtC>gtT	p.V109V		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	109					gamete generation					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						TATTAGGAAGGACTTCAAGTG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	132	132			NA	NA	X		NA											NA				57021054		2136	4253	6389	SO:0001819	synonymous_variant			AL832091	CCDS43963.1	Xp11.22	2008-02-05			ENSG00000204271	ENSG00000204271	169981	169981			27272	protein-coding gene	gene with protein product					NA		Standard	XM_093024	NM_001010862	NA	Approved		uc004dux.1	Q5JUX0	OTTHUMG00000021677	ENST00000374919.3:c.327C>T	X.37:g.57021054G>A		NA	B2RUW3|B7Z8W2|Q8N5D9	37	CCDS43963.1																																																																																			SPIN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056908.1		-	ENST00000374919.3	Silent	SNP	X : 57021054 - 57021054 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	676	172
MAB21L1	4081	broad.mit.edu	37	13	36050193	36050193	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36050193G>A	ENST00000379919.4	-	1	639	c.83C>T	c.(82-84)gCc>gTc	p.A28V	NBEA_ENST00000379939.2_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000310336.4_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	28					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		GATAGTTTTGGCAATGGCAGC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	104	103			NA	NA	13		NA											NA				36050193		2203	4300	6503	SO:0001583	missense			BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660	4081	4081			6757	protein-coding gene	gene with protein product		601280	mab-21 (C. elegans)-like 1		NA	8733127	Standard	NM_005584	NM_005584	NA	Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.83C>T	13.37:g.36050193G>A	ENSP00000369251:p.Ala28Val	NA	Q6I9T5	37	CCDS9353.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825485	0.50739	.	.	ENSG00000180660	ENST00000379919	T	0.18810	2.19	5.76	5.76	0.90799	.	0.155272	0.64402	D	0.000020	T	0.25044	0.0608	M	0.61703	1.905	0.48632	D	0.999686	B	0.06786	0.001	B	0.09377	0.004	T	0.01570	-1.1322	10	0.36615	T	0.2	-3.2857	15.1394	0.72599	0.0695:0.0:0.9305:0.0	.	28	Q13394	MB211_HUMAN	V	28	ENSP00000369251:A28V	ENSP00000369251:A28V	A	-	2	0	MAB21L1	34948193	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.736000	0.93811	0.655000	0.94253	GCC	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044459.3		-	ENST00000379919.4	Missense_Mutation	SNP	13 : 36050193 - 36050193 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	833	172
C12orf29	91298	broad.mit.edu	37	12	88437384	88437384	+	Missense_Mutation	SNP	T	T	C	rs74511812		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:88437384T>C	ENST00000356891.3	+	4	516	c.313T>C	c.(313-315)Tgg>Cgg	p.W105R	C12orf29_ENST00000548757.2_3'UTR	NM_001009894.2	NP_001009894.2	Q8N999	CL029_HUMAN	chromosome 12 open reading frame 29	105										large_intestine(3)|lung(1)|ovary(1)	5						agaatttttttGGAACGTTGA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	33	32			NA	NA	12		NA											NA				88437384		2202	4300	6502	SO:0001583	missense			AL137488	CCDS31866.1	12q21.32	2012-05-30			ENSG00000133641	ENSG00000133641	91298	91298			25322	protein-coding gene	gene with protein product					NA	14702039	Standard	NM_001009894	NM_001009894	NA	Approved	DKFZp434N2030	uc001tao.3	Q8N999	OTTHUMG00000169870	ENST00000356891.3:c.313T>C	12.37:g.88437384T>C	ENSP00000349358:p.Trp105Arg	NA	Q569K5|Q6AWA8|Q6PEK5|Q8IYQ5|Q9NT75	37	CCDS31866.1	.	.	.	.	.	.	.	.	.	.	T	17.85	3.489869	0.64074	.	.	ENSG00000133641	ENST00000356891	T	0.39592	1.07	5.45	5.45	0.79879	.	0.057827	0.85682	D	0.000000	T	0.43233	0.1238	M	0.73598	2.24	0.80722	D	1	P	0.42620	0.785	B	0.35240	0.198	T	0.53927	-0.8369	10	0.87932	D	0	-22.0648	14.3702	0.66833	0.0:0.0:0.0:1.0	.	105	Q8N999	CL029_HUMAN	R	105	ENSP00000349358:W105R	ENSP00000349358:W105R	W	+	1	0	C12orf29	86961515	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.237000	0.78164	2.189000	0.69895	0.460000	0.39030	TGG	C12orf29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406335.1		+	ENST00000356891.3	Missense_Mutation	SNP	12 : 88437384 - 88437384 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	129	30
RB1CC1	9821	broad.mit.edu	37	8	53574165	53574165	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:53574165G>T	ENST00000025008.5	-	9	1811	c.1288C>A	c.(1288-1290)Ctg>Atg	p.L430M	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.L430M|RB1CC1_ENST00000435644.2_Missense_Mutation_p.L430M	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	430					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ATATCTAACAGTTTTCTATGA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(180;1701 2102 13475 42023 52570)							NA				0													169	166	167			NA	NA	8		NA											NA				53574165		2203	4299	6502	SO:0001583	missense			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287	9821	9821			15574	protein-coding gene	gene with protein product	200 kDa FAK family kinase-interacting protein, phosphatase 1, regulatory subunit 131	606837			NA	11850849, 7724523, 18443221	Standard	NM_014781	NM_014781	NA	Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.1288C>A	8.37:g.53574165G>T	ENSP00000025008:p.Leu430Met	NA	Q8WVU9|Q92601	37	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092588	0.76756	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.27104	1.7;1.69;1.69	5.26	4.39	0.52855	.	0.000000	0.64402	D	0.000005	T	0.48822	0.1521	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.52290	-0.8595	10	0.72032	D	0.01	-8.4025	14.0097	0.64488	0.0732:0.0:0.9268:0.0	.	430;430	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	M	430	ENSP00000025008:L430M;ENSP00000396067:L430M;ENSP00000445960:L430M	ENSP00000025008:L430M	L	-	1	2	RB1CC1	53736718	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.853000	0.86934	1.351000	0.45789	0.650000	0.86243	CTG	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378011.1		-	ENST00000025008.5	Missense_Mutation	SNP	8 : 53574165 - 53574165 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	552	108
HDAC4	9759	broad.mit.edu	37	2	240029793	240029793	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240029793T>C	ENST00000345617.3	-	15	2841	c.2050A>G	c.(2050-2052)Agc>Ggc	p.S684G	HDAC4_ENST00000543185.1_Missense_Mutation_p.S268G|HDAC4_ENST00000541256.1_Missense_Mutation_p.S658G	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	684	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GACCAGATGCTCTGGATCCTC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	28	28			NA	NA	2		NA											NA				240029793		2194	4299	6493	SO:0001583	missense			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024	9759	9759			14063	protein-coding gene	gene with protein product		605314	brachydactyly-mental retardation syndrome	BDMR	NA	10206986, 10220385, 20691407	Standard	NM_006037	NM_006037	NA	Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2050A>G	2.37:g.240029793T>C	ENSP00000264606:p.Ser684Gly	NA	Q9UND6	37	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.518191	0.85495	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185;ENST00000541256;ENST00000393621	T;T;T	0.70986	-0.53;-0.53;-0.53	4.01	4.01	0.46588	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.84506	0.5487	M	0.86178	2.8	0.80722	D	1	D;D;D;D;D;D	0.89917	0.996;1.0;0.998;1.0;1.0;0.999	P;D;D;D;D;D	0.85130	0.741;0.997;0.988;0.997;0.988;0.987	D	0.87265	0.2282	10	0.87932	D	0	.	13.2665	0.60137	0.0:0.0:0.0:1.0	.	684;567;658;658;652;684	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	G	684;572;268;658;567	ENSP00000264606:S684G;ENSP00000440481:S268G;ENSP00000443057:S658G	ENSP00000264606:S684G	S	-	1	0	HDAC4	239694730	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.623000	0.83113	1.598000	0.50083	0.460000	0.39030	AGC	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257174.2		-	ENST00000345617.3	Missense_Mutation	SNP	2 : 240029793 - 240029793 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	173	54
PROSER1	80209	broad.mit.edu	37	13	39587359	39587359	+	Missense_Mutation	SNP	G	G	T	rs145907115		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39587359G>T	ENST00000352251.3	-	11	2863	c.2030C>A	c.(2029-2031)tCc>tAc	p.S677Y	PROSER1_ENST00000484434.3_Intron|PROSER1_ENST00000350125.3_Missense_Mutation_p.S655Y	NM_025138.4	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	677	Ser-rich.										NA						GGAAATAGAGGAAAGAGGATT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	117	119			NA	NA	13		NA											NA				39587359		2203	4300	6503	SO:0001583	missense			AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685	80209	80209			20291	protein-coding gene	gene with protein product			chromosome 13 open reading frame 23	C13orf23	NA		Standard	NM_025138	NM_025138	NA	Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.2030C>A	13.37:g.39587359G>T	ENSP00000332034:p.Ser677Tyr	NA	Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	37	CCDS9368.2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025705	0.75390	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.50548	0.74;0.74	4.9	4.9	0.64082	.	.	.	.	.	T	0.53286	0.1787	N	0.24115	0.695	0.48452	D	0.99965	D;D	0.67145	0.996;0.996	D;D	0.65874	0.939;0.939	T	0.50668	-0.8801	8	.	.	.	-11.1091	17.4181	0.87506	0.0:0.0:1.0:0.0	.	655;677	A6NJ97;Q86XN7	.;PRSR1_HUMAN	Y	677;655	ENSP00000332034:S677Y;ENSP00000339123:S655Y	.	S	-	2	0	PROSER1	38485359	0.985000	0.35326	0.033000	0.17914	0.687000	0.40016	5.668000	0.68074	2.421000	0.82119	0.561000	0.74099	TCC	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044607.5		-	ENST00000352251.3	Missense_Mutation	SNP	13 : 39587359 - 39587359 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	469	75
PPP1R16A	84988	broad.mit.edu	37	8	145725514	145725514	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145725514A>C	ENST00000292539.4	+	5	1429	c.512A>C	c.(511-513)aAc>aCc	p.N171T	PPP1R16A_ENST00000435887.1_Missense_Mutation_p.N171T|CTD-2517M14.5_ENST00000569326.1_RNA			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	171						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			ACCGACGGGAACATGCCCTAT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	78	93			NA	NA	8		NA											NA				145725514		2200	4299	6499	SO:0001583	missense				CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972	84988	84988		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Ankyrin repeat domain containing	14941	protein-coding gene	gene with protein product		609172	protein phosphatase 1, regulatory (inhibitor) subunit 16A		NA	11948623	Standard	NM_032902	NM_032902	NA	Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.512A>C	8.37:g.145725514A>C	ENSP00000292539:p.Asn171Thr	NA	D3DWM5	37	CCDS6429.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.765820	0.90020	.	.	ENSG00000160972	ENST00000292539;ENST00000435887	T;T	0.53640	0.61;0.61	5.26	5.26	0.73747	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.57066	0.2028	L	0.37750	1.13	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.56238	-0.8012	10	0.41790	T	0.15	.	13.1298	0.59375	1.0:0.0:0.0:0.0	.	171	Q96I34	PP16A_HUMAN	T	171	ENSP00000292539:N171T;ENSP00000391126:N171T	ENSP00000292539:N171T	N	+	2	0	PPP1R16A	145696322	1.000000	0.71417	0.997000	0.53966	0.896000	0.52359	4.221000	0.58574	1.996000	0.58369	0.459000	0.35465	AAC	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382459.1		+	ENST00000292539.4	Missense_Mutation	SNP	8 : 145725514 - 145725514 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	110	14
CCDC104	0	broad.mit.edu	37	2	55756108	55756108	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55756108G>A	ENST00000349456.4	+	4	525	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	CCDC104_ENST00000407816.3_Missense_Mutation_p.R126Q|CCDC104_ENST00000406691.3_Missense_Mutation_p.R126Q|CCDC104_ENST00000339012.3_Missense_Mutation_p.R151Q|CCDC104_ENST00000403007.3_Missense_Mutation_p.R126Q			Q96G28	CC104_HUMAN		126								p.R126Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAAGCCATTCGAATAATTCAA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											55	55	55			NA	NA	2		NA											NA				55756108		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000349456.4:c.377G>A	2.37:g.55756108G>A	ENSP00000295117:p.Arg126Gln	NA	Q53SF0|Q53ST9|Q6UY34	37	CCDS1854.2	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829275	0.71258	.	.	ENSG00000163001	ENST00000339012;ENST00000406691;ENST00000349456;ENST00000407816;ENST00000403007	T;T;T;T;T	0.30714	2.22;1.52;2.24;2.29;1.52	6.17	5.3	0.74995	.	0.058328	0.64402	D	0.000002	T	0.28034	0.0691	L	0.34521	1.04	0.48236	D	0.999614	P;D	0.58620	0.874;0.983	B;B	0.44315	0.117;0.446	T	0.02070	-1.1219	10	0.33141	T	0.24	.	15.327	0.74172	0.0663:0.0:0.9337:0.0	.	126;151	Q96G28;Q96G28-2	CC104_HUMAN;.	Q	151;126;126;126;126	ENSP00000342699:R151Q;ENSP00000385400:R126Q;ENSP00000295117:R126Q;ENSP00000385376:R126Q;ENSP00000385972:R126Q	ENSP00000342699:R151Q	R	+	2	0	CCDC104	55609612	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.873000	0.63057	1.620000	0.50308	0.655000	0.94253	CGA	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319610.2		+	ENST00000349456.4	Missense_Mutation	SNP	2 : 55756108 - 55756108 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	254	18
FAM173B	134145	broad.mit.edu	37	5	10239412	10239412	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10239412T>G	ENST00000511437.1	-	2	85	c.73A>C	c.(73-75)Agt>Cgt	p.S25R	FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510047.1_Missense_Mutation_p.S25R|FAM173B_ENST00000510052.1_5'UTR	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	25						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						ACTTCAAAACTTGCAGGTAGA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	112	110			NA	NA	5		NA											NA				10239412		1907	4118	6025	SO:0001583	missense				CCDS43301.1, CCDS58942.1	5p15.2	2008-08-08			ENSG00000150756	ENSG00000150756	134145	134145			27029	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_199133	NM_199133	NA	Approved		uc003jeo.3	Q6P4H8	OTTHUMG00000161771	ENST00000511437.1:c.73A>C	5.37:g.10239412T>G	ENSP00000422338:p.Ser25Arg	NA	B4DT41	37	CCDS43301.1	.	.	.	.	.	.	.	.	.	.	T	11.36	1.616075	0.28801	.	.	ENSG00000150756	ENST00000511437;ENST00000510047	T;T	0.19669	2.13;2.16	5.19	1.41	0.22369	.	1.081510	0.06847	N	0.796684	T	0.20047	0.0482	M	0.61703	1.905	0.09310	N	1	B;B	0.15473	0.002;0.013	B;B	0.10450	0.004;0.005	T	0.35475	-0.9787	10	0.26408	T	0.33	-6.5071	3.1427	0.06461	0.2791:0.2294:0.0:0.4915	.	25;25	E9PBZ4;Q6P4H8	.;F173B_HUMAN	R	25	ENSP00000422338:S25R;ENSP00000420876:S25R	ENSP00000424210:S25R	S	-	1	0	FAM173B	10292412	0.000000	0.05858	0.000000	0.03702	0.180000	0.23129	0.040000	0.13905	0.012000	0.14892	0.533000	0.62120	AGT	FAM173B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366048.2		-	ENST00000511437.1	Missense_Mutation	SNP	5 : 10239412 - 10239412 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	467	113
SFRP1	6422	broad.mit.edu	37	8	41122786	41122786	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41122786G>A	ENST00000379845.3	-	3	569	c.437C>T	c.(436-438)aCg>aTg	p.T146M	SFRP1_ENST00000220772.3_Missense_Mutation_p.T282M			Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	282	FZ.				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			GTGGATGGCCGTCAGCAAGTA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	107	113			NA	NA	8		NA											NA				41122786		2203	4300	6503	SO:0001583	missense			AF017987	CCDS34886.1	8p11.21	2006-12-15			ENSG00000104332	ENSG00000104332	6422	6422		Secreted frizzled-related proteins	10776	protein-coding gene	gene with protein product		604156			NA	9391078, 9192640	Standard	NM_003012	NM_003012	NA	Approved	SARP2, FRP, FRP-1	uc003xnt.3	Q8N474	OTTHUMG00000164074	ENST00000379845.3:c.437C>T	8.37:g.41122786G>A	ENSP00000369174:p.Thr146Met	NA	O00546|O14779	37		.	.	.	.	.	.	.	.	.	.	G	22.2	4.255938	0.80135	.	.	ENSG00000104332	ENST00000220772;ENST00000379845;ENST00000535263	T;T	0.27557	1.66;1.66	4.7	4.7	0.59300	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.000000	0.85682	D	0.000000	T	0.34542	0.0901	L	0.57536	1.79	0.80722	D	1	P	0.42757	0.789	B	0.41332	0.354	T	0.17258	-1.0375	10	0.41790	T	0.15	.	16.8129	0.85725	0.0:0.0:1.0:0.0	.	282	Q8N474	SFRP1_HUMAN	M	282;146;282	ENSP00000220772:T282M;ENSP00000369174:T146M	ENSP00000220772:T282M	T	-	2	0	SFRP1	41241943	1.000000	0.71417	0.989000	0.46669	0.983000	0.72400	5.449000	0.66619	2.444000	0.82710	0.563000	0.77884	ACG	SFRP1-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000377133.1		-	ENST00000379845.3	Missense_Mutation	SNP	8 : 41122786 - 41122786 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	93
DDX46	9879	broad.mit.edu	37	5	134154554	134154554	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134154554C>T	ENST00000452510.2	+	21	2995	c.2837C>T	c.(2836-2838)gCt>gTt	p.A946V	DDX46_ENST00000354283.4_Missense_Mutation_p.A945V	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	945					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTTTAGACTGCTAGGTGGAAA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(13;391 453 4901 21675 24897)							NA				0													77	75	76			NA	NA	5		NA											NA				134154554		2203	4300	6503	SO:0001583	missense				CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833	9879	9879		DEAD-boxes	18681	protein-coding gene	gene with protein product					NA		Standard	NM_014829	XM_005272142	NA	Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000452510.2:c.2837C>T	5.37:g.134154554C>T	ENSP00000416534:p.Ala946Val	NA	O94894|Q96EI0|Q9Y658	37		.	.	.	.	.	.	.	.	.	.	C	19.60	3.858916	0.71834	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	T;T	0.28666	1.6;1.6	5.71	5.71	0.89125	.	0.537909	0.22272	N	0.062243	T	0.33731	0.0873	L	0.38838	1.175	0.80722	D	1	B	0.31351	0.32	B	0.37091	0.241	T	0.07214	-1.0784	10	0.48119	T	0.1	1.6371	19.8505	0.96738	0.0:1.0:0.0:0.0	.	945	Q7L014	DDX46_HUMAN	V	946;945	ENSP00000416534:A946V;ENSP00000346236:A945V	ENSP00000346236:A945V	A	+	2	0	DDX46	134182453	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	7.764000	0.85297	2.688000	0.91661	0.655000	0.94253	GCT	DDX46-001	KNOWN	non_canonical_conserved|basic	protein_coding	NA	protein_coding	OTTHUMT00000371583.1		+	ENST00000452510.2	Missense_Mutation	SNP	5 : 134154554 - 134154554 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	237	45
SLC7A10	56301	broad.mit.edu	37	19	33701722	33701722	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33701722C>A	ENST00000253188.4	-	8	1245	c.1099G>T	c.(1099-1101)Gcc>Tcc	p.A367S		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	NA					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					ACGAGGAGGGCGGGGATGGGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	49	50			NA	NA	19		NA											NA				33701722		2202	4296	6498	SO:0001583	missense			AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876	56301	56301		Solute carriers	11058	protein-coding gene	gene with protein product		607959			NA	10734121, 10863037	Standard	NM_019849	NM_019849	NA	Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.1099G>T	19.37:g.33701722C>A	ENSP00000253188:p.Ala367Ser	NA	B2RE84	37	CCDS12431.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.725940	0.69074	.	.	ENSG00000130876	ENST00000253188	D	0.91521	-2.86	5.08	5.08	0.68730	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.93449	0.7910	L	0.53249	1.67	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.993;1.0	D	0.90735	0.4645	10	0.16896	T	0.51	.	17.8044	0.88598	0.0:1.0:0.0:0.0	.	367;214	Q9NS82;Q9NWI3	AAA1_HUMAN;.	S	367	ENSP00000253188:A367S	ENSP00000253188:A367S	A	-	1	0	SLC7A10	38393562	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.590000	0.82653	2.536000	0.85505	0.491000	0.48974	GCC	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450846.2		-	ENST00000253188.4	Missense_Mutation	SNP	19 : 33701722 - 33701722 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	610	149
ZNF234	10780	broad.mit.edu	37	19	44660497	44660497	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44660497G>T	ENST00000426739.2	+	6	586	c.328G>T	c.(328-330)Gat>Tat	p.D110Y	ZNF234_ENST00000592437.1_Missense_Mutation_p.D110Y	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	110	KRNB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GATTGCAAGTGATTTAATCAA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	77	77			NA	NA	19		NA											NA				44660497		1966	4185	6151	SO:0001583	missense			X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002	10780	10780		Zinc fingers, C2H2-type, -	13027	protein-coding gene	gene with protein product		604750		ZNF269	NA	7865130	Standard		NM_006630	NA	Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.328G>T	19.37:g.44660497G>T	ENSP00000400878:p.Asp110Tyr	NA	A8K1C8|Q96IR4|Q9NS45|Q9NYT7	37	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375262	0.42105	.	.	ENSG00000167380	ENST00000426739	T	0.05996	3.36	3.34	2.28	0.28536	.	.	.	.	.	T	0.10078	0.0247	N	0.24115	0.695	0.09310	N	1	D	0.89917	1.0	D	0.71184	0.972	T	0.27331	-1.0077	9	0.42905	T	0.14	.	4.1781	0.10362	0.121:0.0:0.648:0.2311	.	110	Q14588	ZN234_HUMAN	Y	110	ENSP00000400878:D110Y	ENSP00000400878:D110Y	D	+	1	0	ZNF226	49352337	0.099000	0.21834	0.017000	0.16124	0.292000	0.27327	0.985000	0.29578	0.960000	0.38005	0.591000	0.81541	GAT	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460586.2		+	ENST00000426739.2	Missense_Mutation	SNP	19 : 44660497 - 44660497 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	431	89
ALDH1A3	220	broad.mit.edu	37	15	101448629	101448629	+	Missense_Mutation	SNP	G	G	A	rs147752643		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101448629G>A	ENST00000329841.5	+	12	1940	c.1408G>A	c.(1408-1410)Gcc>Acc	p.A470T	RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Missense_Mutation_p.A363T	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	470					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	CTGCTACAACGCCCTCTATGC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA	0,4406		0,0,2203	134	115	121		1408	5.2	0.5	15	dbSNP_134	121	5,8595	4.3+/-15.6	0,5,4295	yes	missense	ALDH1A3	NM_000693.2	58	0,5,6498	AA,AG,GG	NA	0.0581,0.0,0.0384	benign	470/513	101448629	5,13001	2203	4300	6503	SO:0001583	missense			U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	220	220	1.2.1.5	Aldehyde dehydrogenases	409	protein-coding gene	gene with protein product	retinaldehyde dehydrogenase 3	600463		ALDH6	NA	7698756	Standard		XR_111558	NA	Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.1408G>A	15.37:g.101448629G>A	ENSP00000332256:p.Ala470Thr	NA	Q6NT64	37	CCDS10389.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.280781	0.59758	0.0	5.81E-4	ENSG00000184254	ENST00000329841;ENST00000346623	T	0.14640	2.49	5.22	5.22	0.72569	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.050216	0.85682	D	0.000000	T	0.20495	0.0493	N	0.16833	0.445	0.58432	D	0.999999	D;P	0.71674	0.998;0.927	D;B	0.66084	0.941;0.184	T	0.03278	-1.1053	10	0.42905	T	0.14	.	14.5249	0.67881	0.0:0.0:0.853:0.147	.	374;470	Q7Z3A2;P47895	.;AL1A3_HUMAN	T	470;374	ENSP00000332256:A470T	ENSP00000332256:A470T	A	+	1	0	ALDH1A3	99266152	1.000000	0.71417	0.485000	0.27403	0.340000	0.28889	5.457000	0.66672	2.430000	0.82344	0.643000	0.83706	GCC	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313620.2		+	ENST00000329841.5	Missense_Mutation	SNP	15 : 101448629 - 101448629 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	461	72
IFT122	55764	broad.mit.edu	37	3	129238526	129238526	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129238526G>A	ENST00000296266.3	+	30	3932	c.3740G>A	c.(3739-3741)cGc>cAc	p.R1247H	IFT122_ENST00000348417.2_Missense_Mutation_p.R1196H|IFT122_ENST00000349441.2_Missense_Mutation_p.R1086H|IFT122_ENST00000504021.1_Missense_Mutation_p.R1073H|IFT122_ENST00000440957.2_Missense_Mutation_p.R987H|IFT122_ENST00000507564.1_Missense_Mutation_p.R1189H|IFT122_ENST00000431818.2_Missense_Mutation_p.R1046H|IFT122_ENST00000347300.2_Missense_Mutation_p.R1137H	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	1196					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CAATACTTCCGCTCACTGCTG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	111	120			NA	NA	3		NA											NA				129238526		2203	4300	6503	SO:0001583	missense			AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913	55764	55764		WD repeat domain containing, Intraflagellar transport homologs	13556	protein-coding gene	gene with protein product		606045	WD repeat domain 10, intraflagellar transport 122 homolog (Chlamydomonas)	WDR10	NA	11242542	Standard	NM_018262	NM_052985	NA	Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000296266.3:c.3740G>A	3.37:g.129238526G>A	ENSP00000296266:p.Arg1247His	NA	Q53G36|Q9HAT9|Q9UF80	37	CCDS3060.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423331	0.83559	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957	T;T;T;T;T;T;T;T	0.63417	0.61;-0.04;0.1;0.15;0.76;0.75;0.6;0.17	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.82370	0.5022	M	0.83223	2.63	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.83275	0.996;0.97;0.991;0.955;0.941;0.941;0.927;0.967;0.991;0.996	D	0.83452	0.0049	10	0.87932	D	0	-23.4214	20.428	0.99075	0.0:0.0:1.0:0.0	.	987;522;1189;584;1073;1038;1086;1137;1196;1247	E9PDG2;B3KUD1;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;.;IF122_HUMAN;.	H	1137;1247;1189;1046;1073;1086;1196;1038;987	ENSP00000323973:R1137H;ENSP00000296266:R1247H;ENSP00000425536:R1189H;ENSP00000410946:R1046H;ENSP00000422179:R1073H;ENSP00000324165:R1086H;ENSP00000324005:R1196H;ENSP00000401569:R987H	ENSP00000296266:R1247H	R	+	2	0	IFT122	130721216	1.000000	0.71417	1.000000	0.80357	0.179000	0.23085	9.792000	0.99085	2.837000	0.97791	0.655000	0.94253	CGC	IFT122-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355851.1		+	ENST00000296266.3	Missense_Mutation	SNP	3 : 129238526 - 129238526 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	577	100
PCK1	5105	broad.mit.edu	37	20	56139544	56139544	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:56139544C>T	ENST00000319441.4	+	8	1357	c.1193C>T	c.(1192-1194)cCt>cTt	p.P398L	PCK1_ENST00000543666.1_Missense_Mutation_p.P81L|PCK1_ENST00000535860.1_Silent_p.T295T	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	398					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			ATAGGGGAACCTTGTGCCCAC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	90	90			NA	NA	20		NA											NA				56139544		2203	4300	6503	SO:0001583	missense				CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	5105	5105	4.1.1.32		8724	protein-coding gene	gene with protein product		614168			NA	1492743	Standard		NM_002591	NA	Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.1193C>T	20.37:g.56139544C>T	ENSP00000319814:p.Pro398Leu	NA	A8K437|Q8TCA3|Q9UJD2	37	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693727	0.68386	.	.	ENSG00000124253	ENST00000540165;ENST00000319441;ENST00000543666	T;T	0.13307	2.6;2.6	5.65	5.65	0.86999	.	0.046303	0.85682	D	0.000000	T	0.30355	0.0762	M	0.88570	2.965	0.80722	D	1	B;B	0.34372	0.057;0.451	B;B	0.37508	0.07;0.252	T	0.11991	-1.0565	10	0.45353	T	0.12	-14.1572	19.7244	0.96157	0.0:1.0:0.0:0.0	.	81;398	B4DT64;P35558	.;PCKGC_HUMAN	L	80;398;81	ENSP00000319814:P398L;ENSP00000445767:P81L	ENSP00000319814:P398L	P	+	2	0	PCK1	55572950	0.994000	0.37717	0.842000	0.33263	0.714000	0.41099	7.345000	0.79337	2.659000	0.90383	0.655000	0.94253	CCT	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079851.2		+	ENST00000319441.4	Missense_Mutation	SNP	20 : 56139544 - 56139544 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	530	102
KCNC2	3747	broad.mit.edu	37	12	75444616	75444616	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75444616G>T	ENST00000393288.2	-	3	1416	c.1169C>A	c.(1168-1170)gCt>gAt	p.A390D	KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000341669.3_Missense_Mutation_p.A390D|KCNC2_ENST00000540018.1_Missense_Mutation_p.A390D|KCNC2_ENST00000550433.1_Missense_Mutation_p.A390D|KCNC2_ENST00000350228.2_Missense_Mutation_p.A390D|KCNC2_ENST00000298972.1_Missense_Mutation_p.A390D|KCNC2_ENST00000549446.1_Missense_Mutation_p.A390D|KCNC2_ENST00000548513.1_Missense_Mutation_p.A390D			Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	390					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						AACTCCTAGAGCCAGGAAAAT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	56	56			NA	NA	12		NA											NA				75444616		2203	4300	6503	SO:0001583	missense			AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05					3747	3747		Potassium channels, Voltage-gated ion channels / Potassium channels	6234	protein-coding gene	gene with protein product		176256			NA	8111118, 16382104	Standard	NM_153748	NM_139136	NA	Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000393288.2:c.1169C>A	12.37:g.75444616G>T	ENSP00000376966:p.Ala390Asp	NA	Q4LE77|Q86W09|Q8N1V9|Q96PR0	37	CCDS58257.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480886	0.84747	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	D;D;D;D;D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01	6.06	6.06	0.98353	Ion transport (1);	0.000000	0.64402	D	0.000003	D	0.99214	0.9727	M	0.90369	3.11	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.958	D;D;D;D;P	0.87578	0.994;0.998;0.979;0.996;0.759	D	0.99308	1.0903	10	0.87932	D	0	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	390;390;390;390;390	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	D	390	ENSP00000448301:A390D;ENSP00000449941:A390D;ENSP00000449253:A390D;ENSP00000340121:A390D;ENSP00000298972:A390D;ENSP00000319877:A390D;ENSP00000438423:A390D;ENSP00000376966:A390D	ENSP00000298972:A390D	A	-	2	0	KCNC2	73730883	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.835000	0.99442	2.880000	0.98712	0.650000	0.86243	GCT	KCNC2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405584.1		-	ENST00000393288.2	Missense_Mutation	SNP	12 : 75444616 - 75444616 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	279	58
ABCC5	10057	broad.mit.edu	37	3	183700361	183700361	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183700361C>T	ENST00000334444.6	-	7	1117	c.877G>A	c.(877-879)Gtt>Att	p.V293I	ABCC5_ENST00000492216.1_5'UTR|ABCC5_ENST00000265586.6_Missense_Mutation_p.V293I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	293	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AGGCTGCCAACGGCTGCTGCC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	49	49			NA	NA	3		NA											NA				183700361		1885	4109	5994	SO:0001583	missense			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770	10057	10057		ATP binding cassette transporters / subfamily C	56	protein-coding gene	gene with protein product		605251			NA	8894702, 9827529	Standard	NM_005688	XM_005247058	NA	Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.877G>A	3.37:g.183700361C>T	ENSP00000333926:p.Val293Ile	NA	B9EIQ2|O14517|Q9UN85|Q9UNP5|Q9UQC3	37	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.169779	0.38315	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	D;D	0.89485	-2.52;-2.52	6.17	6.17	0.99709	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.063143	0.64402	D	0.000007	T	0.81880	0.4916	N	0.16307	0.4	0.58432	D	0.999992	P;B	0.34837	0.472;0.065	B;B	0.25140	0.058;0.032	T	0.81247	-0.1019	10	0.62326	D	0.03	-17.1801	20.8794	0.99867	0.0:1.0:0.0:0.0	.	293;293	Q86UX3;O15440	.;MRP5_HUMAN	I	293;229;293	ENSP00000333926:V293I;ENSP00000265586:V293I	ENSP00000265586:V293I	V	-	1	0	ABCC5	185183055	0.998000	0.40836	0.849000	0.33467	0.981000	0.71138	3.714000	0.54889	2.941000	0.99782	0.655000	0.94253	GTT	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346350.1		-	ENST00000334444.6	Missense_Mutation	SNP	3 : 183700361 - 183700361 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	390	69
DLGAP5	9787	broad.mit.edu	37	14	55636179	55636179	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55636179G>A	ENST00000247191.2	-	12	1702	c.1486C>T	c.(1486-1488)Cga>Tga	p.R496*	DLGAP5_ENST00000395425.2_Nonsense_Mutation_p.R496*	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	496					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TTTATACCTCGTTTATATTCA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	105	109			NA	NA	14		NA											NA				55636179		2203	4300	6503	SO:0001587	stop_gained			D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787	9787	9787			16864	protein-coding gene	gene with protein product			discs, large homolog 7 (Drosophila)	DLG7	NA	7584026, 7584028	Standard	NM_014750	NM_014750	NA	Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.1486C>T	14.37:g.55636179G>A	ENSP00000247191:p.Arg496*	NA	Q8NG58	37	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531200	0.85706	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	.	.	.	5.85	2.93	0.34026	.	0.242538	0.42420	D	0.000720	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1119	0.42568	0.1297:0.1155:0.7548:0.0	.	.	.	.	X	496	.	ENSP00000247191:R496X	R	-	1	2	DLGAP5	54705932	0.996000	0.38824	0.101000	0.21167	0.009000	0.06853	2.861000	0.48380	0.897000	0.36392	-0.140000	0.14226	CGA	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276908.2		-	ENST00000247191.2	Nonsense_Mutation	SNP	14 : 55636179 - 55636179 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	436	82
ZKSCAN7	55888	broad.mit.edu	37	3	44611810	44611810	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44611810G>T	ENST00000273320.3	+	6	1637	c.1208G>T	c.(1207-1209)aGa>aTa	p.R403I	ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.R403I|RP11-944L7.5_ENST00000419137.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7	NA											NA						GGCCATCAGAGAATCCACACT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	80	79			NA	NA	3		NA											NA				44611810		2203	4300	6503	SO:0001583	missense			L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345	55888	55888		Zinc fingers, C2H2-type, -, -, -	12955	protein-coding gene	gene with protein product			zinc finger protein 64, zinc finger protein 448, zinc finger protein 167	ZNF64, ZNF448, ZNF167	NA	7814019, 1505991	Standard	NM_018651	XM_005265323	NA	Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.1208G>T	3.37:g.44611810G>T	ENSP00000273320:p.Arg403Ile	NA		37	CCDS2715.1	.	.	.	.	.	.	.	.	.	.	.	18.90	3.721031	0.68959	.	.	ENSG00000196345	ENST00000426540;ENST00000273320;ENST00000447279	T;T;T	0.24908	1.83;1.83;4.29	4.35	4.35	0.52113	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36034	N	0.002826	T	0.39384	0.1076	L	0.31664	0.95	0.48632	D	0.999684	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.976	T	0.30475	-0.9977	10	0.59425	D	0.04	-13.1671	15.8256	0.78703	0.0:0.0:1.0:0.0	.	273;403	A7MAY2;Q9P0L1	.;ZN167_HUMAN	I	403;403;252	ENSP00000395524:R403I;ENSP00000273320:R403I;ENSP00000405034:R252I	ENSP00000273320:R403I	R	+	2	0	ZNF167	44586814	0.001000	0.12720	1.000000	0.80357	0.994000	0.84299	0.358000	0.20216	2.267000	0.75376	0.650000	0.86243	AGA	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256752.4		+	ENST00000273320.3	Missense_Mutation	SNP	3 : 44611810 - 44611810 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	632	57
MAST3	23031	broad.mit.edu	37	19	18245404	18245404	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18245404G>A	ENST00000262811.6	+	15	1500	c.1500G>A	c.(1498-1500)tcG>tcA	p.S500S		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	NA	Protein kinase.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TCATCACCTCGCTTGGCCACA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	51	49			NA	NA	19		NA											NA				18245404		2164	4279	6443	SO:0001819	synonymous_variant			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308	23031	23031			19036	protein-coding gene	gene with protein product		612258			NA		Standard	XM_038150	NM_015016	NA	Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.1500G>A	19.37:g.18245404G>A		NA	Q7LDZ8|Q9UPI0	37	CCDS46014.1																																																																																			MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466526.2		+	ENST00000262811.6	Silent	SNP	19 : 18245404 - 18245404 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	102	29
SZT2	23334	broad.mit.edu	37	1	43885853	43885853	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43885853C>A	ENST00000562955.1	+	9	1120	c.1120C>A	c.(1120-1122)Ctg>Atg	p.L374M		NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	374						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TAATGAGCACCTGGTCTCTGC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	72	75			NA	NA	1		NA											NA				43885853		876	1991	2867	SO:0001583	missense			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198	23334	23334			29040	protein-coding gene	gene with protein product	seizure threshold 2 homolog A (mouse), seizure threshold 2 homolog B (mouse)	615463	chromosome 1 open reading frame 84, KIAA0467	C1orf84, KIAA0467	NA	9455484	Standard	NM_015284	NM_015284	NA	Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.1120C>A	1.37:g.43885853C>A	ENSP00000457168:p.Leu374Met	NA	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	37	CCDS30694.2																																																																																			SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019517.3		+	ENST00000562955.1	Missense_Mutation	SNP	1 : 43885853 - 43885853 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	257	24
KXD1	79036	broad.mit.edu	37	19	18675741	18675741	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18675741G>A	ENST00000602094.1	+	3	1624	c.164G>A	c.(163-165)cGc>cAc	p.R55H	KXD1_ENST00000598830.1_Missense_Mutation_p.R55H|KXD1_ENST00000539106.1_Missense_Mutation_p.R55H|KXD1_ENST00000601630.1_Missense_Mutation_p.R55H|KXD1_ENST00000599319.1_Missense_Mutation_p.R55H|KXD1_ENST00000540691.1_Missense_Mutation_p.R55H|KXD1_ENST00000595073.1_Missense_Mutation_p.R55H|KXD1_ENST00000599000.1_Missense_Mutation_p.R55H|KXD1_ENST00000222307.4_Missense_Mutation_p.R55H			Q9BQD3	CS050_HUMAN	KxDL motif containing 1	55							protein binding	p.R55H(1)			NA						TCCAGTGCCCGCCTGCAGCAG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	autonomic_ganglia(1)											182	170	174			NA	NA	19		NA											NA				18675741		2203	4300	6503	SO:0001583	missense			AK098346	CCDS12381.1	19p13.11	2011-11-24	2011-11-24	2011-11-24	ENSG00000105700	ENSG00000105700	79036	79036			28420	protein-coding gene	gene with protein product		615178	chromosome 19 open reading frame 50	C19orf50	NA	21159114	Standard	NM_024069	NM_001171948	NA	Approved	FLJ25480, MGC2749, KXDL	uc002njo.3	Q9BQD3		ENST00000602094.1:c.164G>A	19.37:g.18675741G>A	ENSP00000472836:p.Arg55His	NA	O76098	37	CCDS12381.1	.	.	.	.	.	.	.	.	.	.	g	23.8	4.460579	0.84317	.	.	ENSG00000105700	ENST00000540691;ENST00000539106;ENST00000222307	T;T;T	0.54675	0.56;0.56;0.56	5.37	4.33	0.51752	Uncharacterised domain KxDL (1);	0.052215	0.85682	N	0.000000	T	0.67970	0.2950	L	0.61036	1.89	0.58432	D	0.999998	D	0.76494	0.999	D	0.72075	0.976	T	0.71090	-0.4693	10	0.72032	D	0.01	-28.9754	13.0235	0.58802	0.0783:0.0:0.9217:0.0	.	55	Q9BQD3	CS050_HUMAN	H	55	ENSP00000443549:R55H;ENSP00000438903:R55H;ENSP00000222307:R55H	ENSP00000222307:R55H	R	+	2	0	C19orf50	18536741	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	8.513000	0.90542	1.261000	0.44149	0.486000	0.48141	CGC	KXD1-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465107.1		+	ENST00000602094.1	Missense_Mutation	SNP	19 : 18675741 - 18675741 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1047	25
GAPVD1	26130	broad.mit.edu	37	9	128104578	128104578	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128104578G>T	ENST00000297933.6	+	19	3293	c.3046G>T	c.(3046-3048)Gat>Tat	p.D1016Y	GAPVD1_ENST00000495955.1_Splice_Site_p.D1016Y|GAPVD1_ENST00000394105.2_Splice_Site_p.D1043Y|GAPVD1_ENST00000470056.1_Intron|GAPVD1_ENST00000312123.9_Splice_Site_p.D995Y|GAPVD1_ENST00000394083.2_Intron|GAPVD1_ENST00000394104.2_Splice_Site_p.D1016Y|GAPVD1_ENST00000265956.4_Splice_Site_p.D990Y	NM_001282680.1	NP_001269609.1	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1016					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AACACTCACAGGTTTGTAGAC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	134	136			NA	NA	9		NA											NA				128104578		2203	4300	6503	SO:0001630	splice_region_variant				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219	26130	26130			23375	protein-coding gene	gene with protein product		611714			NA		Standard		XM_005251901	NA	Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000297933.6:c.3046+1G>T	9.37:g.128104578G>T		NA	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	37		.	.	.	.	.	.	.	.	.	.	G	18.12	3.552272	0.65311	.	.	ENSG00000165219	ENST00000394105;ENST00000394104;ENST00000265956;ENST00000495955;ENST00000297933;ENST00000312123	.	.	.	6.07	6.07	0.98685	.	0.089689	0.85682	D	0.000000	T	0.56761	0.2007	L	0.36672	1.1	0.80722	D	1	P;P;P;P	0.49559	0.61;0.729;0.729;0.925	B;P;P;P	0.51355	0.372;0.474;0.474;0.667	T	0.48670	-0.9015	9	0.05436	T	0.98	.	19.6475	0.95784	0.0:0.0:1.0:0.0	.	1016;995;1016;1043	Q14C86;Q14C86-4;Q14C86-2;Q14C86-6	GAPD1_HUMAN;.;.;.	Y	1043;1016;990;1016;1016;995	.	ENSP00000265956:D990Y	D	+	1	0	GAPVD1	127144399	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.047000	0.76599	2.885000	0.99019	0.655000	0.94253	GAT	GAPVD1-015	NOVEL	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000355645.1	Missense_Mutation	+	ENST00000297933.6	Splice_Site	SNP	9 : 128104578 - 128104578 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	428	16
PTDSS1	9791	broad.mit.edu	37	8	97296348	97296348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:97296348C>T	ENST00000517309.1	+	3	609	c.283C>T	c.(283-285)Cga>Tga	p.R95*	PTDSS1_ENST00000518776.1_3'UTR|PTDSS1_ENST00000455950.2_Intron	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	95					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	TCCGTTCACTCGACCTCATCC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	158	157			NA	NA	8		NA											NA				97296348		2203	4300	6503	SO:0001587	stop_gained			D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471	9791	9791			9587	protein-coding gene	gene with protein product		612792			NA		Standard		NM_014754	NA	Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.283C>T	8.37:g.97296348C>T	ENSP00000430548:p.Arg95*	NA		37	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	C	40	8.117612	0.98662	.	.	ENSG00000156471	ENST00000517309	.	.	.	5.16	3.24	0.37175	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.5217	12.3532	0.55161	0.3274:0.6726:0.0:0.0	.	.	.	.	X	95	.	ENSP00000430548:R95X	R	+	1	2	PTDSS1	97365524	0.944000	0.32072	0.870000	0.34147	0.980000	0.70556	2.050000	0.41297	0.465000	0.27167	0.603000	0.83216	CGA	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379743.2		+	ENST00000517309.1	Nonsense_Mutation	SNP	8 : 97296348 - 97296348 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	551	105
FAM162A	26355	broad.mit.edu	37	3	122126163	122126163	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122126163G>A	ENST00000232125.5	+	5	549	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	FAM162A_ENST00000469967.1_Missense_Mutation_p.R100Q|FAM162A_ENST00000477892.1_Missense_Mutation_p.R100Q			Q96A26	F162A_HUMAN	family with sequence similarity 162, member A	100						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						AACAAGATGCGAGTGAAGATC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	169	171			NA	NA	3		NA											NA				122126163		1964	4167	6131	SO:0001583	missense			AF191020	CCDS43139.1	3q21.1	2008-06-05	2008-06-05	2008-06-05	ENSG00000114023	ENSG00000114023	26355	26355			17865	protein-coding gene	gene with protein product		608017	chromosome 3 open reading frame 28	C3orf28	NA	11085516	Standard	NM_014367	NM_014367	NA	Approved	E2IG5	uc003eez.3	Q96A26	OTTHUMG00000159494	ENST00000232125.5:c.269G>A	3.37:g.122126163G>A	ENSP00000232125:p.Arg90Gln	NA	Q9NRN6|Q9UJX8	37		.	.	.	.	.	.	.	.	.	.	G	17.39	3.378827	0.61735	.	.	ENSG00000114023	ENST00000232125;ENST00000477892;ENST00000469967;ENST00000440333	T;T;T	0.61742	0.08;0.08;0.08	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.79335	0.4428	M	0.89095	3.005	0.41776	D	0.989797	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.971	T	0.82564	-0.0394	10	0.72032	D	0.01	.	14.8533	0.70316	0.0:0.0:1.0:0.0	.	100;100	E9PH05;Q96A26	.;F162A_HUMAN	Q	90;100;100;99	ENSP00000232125:R90Q;ENSP00000419088:R100Q;ENSP00000419491:R100Q	ENSP00000232125:R90Q	R	+	2	0	FAM162A	123608853	0.996000	0.38824	0.797000	0.32132	0.005000	0.04900	6.467000	0.73547	2.880000	0.98712	0.650000	0.86243	CGA	FAM162A-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000355768.1		+	ENST00000232125.5	Missense_Mutation	SNP	3 : 122126163 - 122126163 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	30
NOVA1	4857	broad.mit.edu	37	14	26917292	26917292	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:26917292C>T	ENST00000539517.2	-	5	1714	c.1397G>A	c.(1396-1398)gGc>gAc	p.G466D	NOVA1_ENST00000465357.2_Missense_Mutation_p.G442D|NOVA1_ENST00000267422.7_Missense_Mutation_p.G344D	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	469	KH 3.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		ATTCCTTGTGCCAGGTACGAA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	135	145			NA	NA	14		NA											NA				26917292		2203	4300	6503	SO:0001583	missense			U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910	4857	4857			7886	protein-coding gene	gene with protein product		602157			NA	8558240	Standard	NM_006491	NM_006489	NA	Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.1397G>A	14.37:g.26917292C>T	ENSP00000438875:p.Gly466Asp	NA	A8K0S4|A8K4Q7|D3DS82|Q6B004	37	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.175514	0.57692	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422	T;T;T	0.29397	1.57;1.57;1.57	5.92	5.92	0.95590	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.64402	D	0.000001	T	0.62551	0.2437	M	0.82193	2.58	0.80722	D	1	D;D;D	0.76494	0.999;0.987;0.999	D;D;D	0.87578	0.998;0.988;0.991	T	0.64166	-0.6471	10	0.62326	D	0.03	-22.96	20.3151	0.98650	0.0:1.0:0.0:0.0	.	469;442;466	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	D	442;466;344	ENSP00000447391:G442D;ENSP00000438875:G466D;ENSP00000267422:G344D	ENSP00000267422:G344D	G	-	2	0	NOVA1	25987132	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.809000	0.96659	0.467000	0.42956	GGC	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000073261.3		-	ENST00000539517.2	Missense_Mutation	SNP	14 : 26917292 - 26917292 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	199	14
GPC3	2719	broad.mit.edu	37	X	132833993	132833993	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:132833993G>T	ENST00000370818.3	-	4	1541	c.1096C>A	c.(1096-1098)Ctc>Atc	p.L366I	GPC3_ENST00000394299.2_Missense_Mutation_p.L389I|GPC3_ENST00000543339.1_Missense_Mutation_p.L312I	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	366						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					TCAATAAAGAGATCTTCAGGA	0.333		NA	T, D, Mis, N, F, S			Wilms tumour			Simpson-Golabi-Behmel syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	glypican 3		O	0													77	72	74			NA	NA	X		NA											NA				132833993		2203	4296	6499	SO:0001583	missense	Familial Cancer Database	SGBS	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257	2719	2719		Proteoglycans / Cell Surface : Glypicans	4451	protein-coding gene	gene with protein product	glypican proteoglycan 3	300037		SDYS	NA	8589713, 9787072	Standard	NM_004484	NM_004484	NA	Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.1096C>A	X.37:g.132833993G>T	ENSP00000359854:p.Leu366Ile	NA		37	CCDS14638.1	.	.	.	.	.	.	.	.	.	.	G	9.895	1.205259	0.22205	.	.	ENSG00000147257	ENST00000370818;ENST00000394299;ENST00000543339	T;T;T	0.50001	0.76;0.76;0.76	5.3	3.51	0.40186	.	0.363857	0.25408	N	0.030900	T	0.32164	0.0820	L	0.36672	1.1	0.27451	N	0.95343	B;P;B;B	0.39862	0.434;0.692;0.409;0.156	B;B;B;B	0.36030	0.216;0.164;0.216;0.216	T	0.10894	-1.0610	10	0.21540	T	0.41	.	8.4759	0.33012	0.2516:0.0:0.7484:0.0	.	350;312;389;366	B4DTD8;G3V1R0;C9JLE3;P51654	.;.;.;GPC3_HUMAN	I	366;389;312	ENSP00000359854:L366I;ENSP00000377836:L389I;ENSP00000444222:L312I	ENSP00000359854:L366I	L	-	1	0	GPC3	132661659	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.998000	0.49465	1.008000	0.39264	0.436000	0.28706	CTC	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058356.1		-	ENST00000370818.3	Missense_Mutation	SNP	X : 132833993 - 132833993 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	310	82
RNF111	54778	broad.mit.edu	37	15	59368362	59368362	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59368362G>T	ENST00000348370.4	+	7	2329	c.1896G>T	c.(1894-1896)caG>caT	p.Q632H	RNF111_ENST00000559209.1_Missense_Mutation_p.Q632H|RNF111_ENST00000557998.1_Missense_Mutation_p.Q632H|RNF111_ENST00000434298.1_Missense_Mutation_p.Q632H|RNF111_ENST00000561186.1_Missense_Mutation_p.Q632H	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	632	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CCCAGCCCCAGCCCCCTCCAC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(72;983 1365 10746 34387 47081)							NA				0													98	105	103			NA	NA	15		NA											NA				59368362		2192	4291	6483	SO:0001583	missense			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450	54778	54778		RING-type (C3HC4) zinc fingers	17384	protein-coding gene	gene with protein product		605840			NA	11298452	Standard	NM_017610	NM_017610	NA	Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000348370.4:c.1896G>T	15.37:g.59368362G>T	ENSP00000288199:p.Gln632His	NA	C9JUS4|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	37	CCDS10169.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.353369	0.61293	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.17528	2.27;2.27	5.55	3.69	0.42338	.	0.060419	0.64402	D	0.000002	T	0.19327	0.0464	N	0.24115	0.695	0.44366	D	0.99726	D;D;D	0.64830	0.993;0.989;0.994	P;P;P	0.62740	0.891;0.781;0.906	T	0.07693	-1.0759	10	0.34782	T	0.22	-11.2479	4.6727	0.12698	0.2388:0.0:0.608:0.1532	.	632;632;632	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	H	632	ENSP00000288199:Q632H;ENSP00000393641:Q632H	ENSP00000288199:Q632H	Q	+	3	2	RNF111	57155654	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.639000	0.37176	0.831000	0.34780	-0.259000	0.10710	CAG	RNF111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256017.2		+	ENST00000348370.4	Missense_Mutation	SNP	15 : 59368362 - 59368362 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	945	146
NCAPG2	54892	broad.mit.edu	37	7	158448052	158448052	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158448052C>T	ENST00000409339.3	-	20	2597	c.2484G>A	c.(2482-2484)ctG>ctA	p.L828L	NCAPG2_ENST00000541468.1_Silent_p.L329L|NCAPG2_ENST00000356309.3_Silent_p.L828L|NCAPG2_ENST00000275830.10_Silent_p.L620L|NCAPG2_ENST00000449727.2_Silent_p.L828L|NCAPG2_ENST00000409423.1_Silent_p.L828L	NM_001281933.1	NP_001268862.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	828					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		GATGGATGCTCAGGCGACAGT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	158	152			NA	NA	7		NA											NA				158448052		2081	4216	6297	SO:0001819	synonymous_variant			BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918	54892	54892			21904	protein-coding gene	gene with protein product		608532	leucine zipper protein 5	LUZP5	NA	14532007	Standard	NM_017760	NM_001281933	NA	Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409339.3:c.2484G>A	7.37:g.158448052C>T		NA	A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	37																																																																																				NCAPG2-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000327110.1		-	ENST00000409339.3	Silent	SNP	7 : 158448052 - 158448052 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1178	186
TRIM60	166655	broad.mit.edu	37	4	165962546	165962546	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:165962546A>G	ENST00000512596.1	+	3	1538	c.1322A>G	c.(1321-1323)aAc>aGc	p.N441S	TRIM60_ENST00000341062.5_Missense_Mutation_p.N441S|TRIM60_ENST00000508504.1_Missense_Mutation_p.N441S	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	441	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TATACTTTTAACGATTGTTTC	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	70	68			NA	NA	4		NA											NA				165962546		2203	4300	6503	SO:0001583	missense			AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979	166655	166655		RING-type (C3HC4) zinc fingers, Tripartite motif containing / Tripartite motif containing	21162	protein-coding gene	gene with protein product			ring finger protein 129, tripartite motif-containing 60	RNF129, RNF33	NA		Standard	NM_152620	NM_152620	NA	Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.1322A>G	4.37:g.165962546A>G	ENSP00000421142:p.Asn441Ser	NA	Q8NA35	37	CCDS3808.1	.	.	.	.	.	.	.	.	.	.	A	0.032	-1.329548	0.01298	.	.	ENSG00000176979	ENST00000512596;ENST00000508504;ENST00000341062	T;T;T	0.66995	-0.24;-0.24;-0.24	2.69	-5.28	0.02755	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	1.284280	0.06150	N	0.674012	T	0.31979	0.0814	N	0.02685	-0.53	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.35773	-0.9775	10	0.05620	T	0.96	.	6.4852	0.22085	0.2125:0.2887:0.4988:0.0	.	441	Q495X7	TRI60_HUMAN	S	441	ENSP00000421142:N441S;ENSP00000426496:N441S;ENSP00000343765:N441S	ENSP00000343765:N441S	N	+	2	0	TRIM60	166181996	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.427000	0.06999	-1.292000	0.02366	-0.256000	0.11100	AAC	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364325.1		+	ENST00000512596.1	Missense_Mutation	SNP	4 : 165962546 - 165962546 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	392	74
ABCA7	10347	broad.mit.edu	37	19	1043455	1043455	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1043455C>T	ENST00000263094.6	+	9	1144	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W	ABCA7_ENST00000433129.1_Missense_Mutation_p.R305W|ABCA7_ENST00000435683.2_Missense_Mutation_p.R167W	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	305					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTTTTACCCGGAAGCTCAT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	82	79			NA	NA	19		NA											NA				1043455		2203	4300	6503	SO:0001583	missense			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687	10347	10347		ATP binding cassette transporters / subfamily A	37	protein-coding gene	gene with protein product		605414			NA		Standard	NM_019112	NM_019112	NA	Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.913C>T	19.37:g.1043455C>T	ENSP00000263094:p.Arg305Trp	NA	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	37	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.394187	0.42410	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.86164	-2.08;-2.08	4.18	-1.11	0.09840	.	.	.	.	.	D	0.91016	0.7174	M	0.75777	2.31	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.81551	-0.0881	9	0.87932	D	0	.	6.6097	0.22745	0.4667:0.4442:0.0:0.0892	.	167;305	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	W	305	ENSP00000263094:R305W;ENSP00000414062:R305W	ENSP00000263094:R305W	R	+	1	2	ABCA7	994455	0.000000	0.05858	0.274000	0.24659	0.527000	0.34593	-0.337000	0.07852	-0.442000	0.07190	-0.671000	0.03813	CGG	ABCA7-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394993.1		+	ENST00000263094.6	Missense_Mutation	SNP	19 : 1043455 - 1043455 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	994	41
ARHGAP17	55114	broad.mit.edu	37	16	24942726	24942726	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24942726C>A	ENST00000289968.6	-	19	1964		c.e19-1		ARHGAP17_ENST00000303665.5_Splice_Site|ARHGAP17_ENST00000441763.2_Splice_Site	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	NA					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		TTTTTAACAGCTGCACAAaaa	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	32	30			NA	NA	16		NA											NA				24942726		2171	4282	6453	SO:0001630	splice_region_variant			AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750	55114	55114		Rho GTPase activating proteins	18239	protein-coding gene	gene with protein product		608293			NA	10967100, 11431473	Standard	NM_018054	XM_005255413	NA	Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.1895-1G>T	16.37:g.24942726C>A		NA	A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	37	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.532339	0.27387	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6581	0.85234	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARHGAP17	24850227	1.000000	0.71417	1.000000	0.80357	0.248000	0.25809	6.056000	0.71111	2.518000	0.84900	0.561000	0.74099	.	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000436548.3	Intron	-	ENST00000289968.6	Splice_Site	SNP	16 : 24942726 - 24942726 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	474	113
PKN1	5585	broad.mit.edu	37	19	14568859	14568859	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14568859G>A	ENST00000242783.6	+	8	1347	c.1182G>A	c.(1180-1182)gtG>gtA	p.V394V	PKN1_ENST00000342216.4_Silent_p.V400V	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	394	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TCAGCACTGTGCTTAAGCTGG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(185;2539 2965 10733 52867)							NA				0													147	143	144			NA	NA	19		NA											NA				14568859		1984	4165	6149	SO:0001819	synonymous_variant			S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143	5585	5585			9405	protein-coding gene	gene with protein product		601032	protein kinase C-like 1	PRKCL1	NA	9570957	Standard	NM_002741, NM_213560	NM_002741	NA	Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.1182G>A	19.37:g.14568859G>A		NA	A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	37	CCDS42513.1																																																																																			PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095510.1		+	ENST00000242783.6	Silent	SNP	19 : 14568859 - 14568859 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1280	251
ASPM	259266	broad.mit.edu	37	1	197071117	197071117	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197071117G>A	ENST00000367409.4	-	18	7520	c.7264C>T	c.(7264-7266)Ctg>Ttg	p.L2422L	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2422	IQ 25.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTCCTCACCAGTAATGATCTA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	106	105			NA	NA	1		NA											NA				197071117		2203	4299	6502	SO:0001819	synonymous_variant			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279	259266	259266			19048	protein-coding gene	gene with protein product		605481	microcephaly, primary autosomal recessive 5, asp (abnormal spindle)-like, microcephaly associated (Drosophila)	MCPH5	NA	11078481	Standard	NM_018136	NM_018136	NA	Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.7264C>T	1.37:g.197071117G>A		NA	Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	37	CCDS1389.1																																																																																			ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088256.1		-	ENST00000367409.4	Silent	SNP	1 : 197071117 - 197071117 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	694	111
PPP1R13L	10848	broad.mit.edu	37	19	45888926	45888926	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45888926C>T	ENST00000418234.2	-	11	2220	c.2142G>A	c.(2140-2142)caG>caA	p.Q714Q	PPP1R13L_ENST00000360957.5_Silent_p.Q714Q	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	714					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CAGCGCCGTGCTGCACCAGCG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(61;1447 1663 31419 50578)							NA				0													55	46	49			NA	NA	19		NA											NA				45888926		2201	4298	6499	SO:0001819	synonymous_variant			AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881	10848	10848		Ankyrin repeat domain containing	18838	protein-coding gene	gene with protein product		607463	protein phosphatase 1, regulatory (inhibitor) subunit 13 like		NA	10336463	Standard	NM_006663	NM_006663	NA	Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.2142G>A	19.37:g.45888926C>T		NA	Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	37	CCDS33050.1																																																																																			PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457586.1		-	ENST00000418234.2	Silent	SNP	19 : 45888926 - 45888926 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	275	42
WDR55	54853	broad.mit.edu	37	5	140048517	140048517	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140048517G>A	ENST00000358337.5	+	5	839	c.602G>A	c.(601-603)cGg>cAg	p.R201Q	WDR55_ENST00000520764.1_3'UTR	NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	201					rRNA processing	cytoplasm|nucleolus				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGAGGCGTCGGTTTGAGCTG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	78	80			NA	NA	5		NA											NA				140048517		2203	4300	6503	SO:0001583	missense			AK000202	CCDS4235.1	5q31.3	2013-01-09			ENSG00000120314	ENSG00000120314	54853	54853		WD repeat domain containing	25971	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_017706	NM_017706	NA	Approved	FLJ20195, FLJ21702	uc003lgr.4	Q9H6Y2	OTTHUMG00000129506	ENST00000358337.5:c.602G>A	5.37:g.140048517G>A	ENSP00000351100:p.Arg201Gln	NA	Q9NXK4	37	CCDS4235.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.879096	0.72294	.	.	ENSG00000120314	ENST00000358337	T	0.28069	1.63	5.44	4.57	0.56435	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000005	T	0.42471	0.1204	M	0.66939	2.045	0.53005	D	0.999968	D;D	0.69078	0.993;0.997	P;P	0.58331	0.837;0.808	T	0.46596	-0.9180	10	0.05525	T	0.97	-10.756	13.3211	0.60434	0.0779:0.0:0.922:0.0	.	40;201	G3V1J0;Q9H6Y2	.;WDR55_HUMAN	Q	201	ENSP00000351100:R201Q	ENSP00000351100:R201Q	R	+	2	0	WDR55	140028701	1.000000	0.71417	0.993000	0.49108	0.485000	0.33311	9.449000	0.97603	1.289000	0.44618	0.467000	0.42956	CGG	WDR55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251680.3		+	ENST00000358337.5	Missense_Mutation	SNP	5 : 140048517 - 140048517 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	428	80
TNK1	8711	broad.mit.edu	37	17	7291949	7291949	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7291949C>A	ENST00000570896.1	+	12	2148	c.1702C>A	c.(1702-1704)Cct>Act	p.P568T	TNK1_ENST00000576812.1_Missense_Mutation_p.P573T|TNK1_ENST00000311668.2_Missense_Mutation_p.P568T			Q13470	TNK1_HUMAN	tyrosine kinase, non-receptor, 1	573	Pro-rich.				protein autophosphorylation	membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				CATGGGAATGCCTGGAGCCCG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	55	53			NA	NA	17		NA											NA				7291949		1889	4125	6014	SO:0001583	missense			U43408	CCDS45602.1, CCDS58510.1	17p13.1	2005-09-22				ENSG00000174292	8711	8711			11940	protein-coding gene	gene with protein product		608076			NA	8632913	Standard	NM_003985	NM_003985	NA	Approved		uc002ggi.4	Q13470		ENST00000570896.1:c.1702C>A	17.37:g.7291949C>A	ENSP00000458834:p.Pro568Thr	NA	O95364|Q8IYI4	37	CCDS45602.1	.	.	.	.	.	.	.	.	.	.	C	7.371	0.626753	0.14257	.	.	ENSG00000174292	ENST00000311668	T	0.76968	-1.06	5.26	3.28	0.37604	.	0.460571	0.18670	N	0.134461	T	0.58509	0.2127	N	0.08118	0	0.24072	N	0.995972	B;B	0.31548	0.328;0.22	B;B	0.34242	0.178;0.086	T	0.54091	-0.8345	10	0.66056	D	0.02	.	7.5516	0.27800	0.0:0.7366:0.0:0.2634	.	568;573	Q13470-2;Q13470	.;TNK1_HUMAN	T	568	ENSP00000312309:P568T	ENSP00000312309:P568T	P	+	1	0	TNK1	7232673	0.019000	0.18553	0.432000	0.26747	0.022000	0.10575	-0.037000	0.12164	0.735000	0.32537	0.655000	0.94253	CCT	TNK1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000440833.2		+	ENST00000570896.1	Missense_Mutation	SNP	17 : 7291949 - 7291949 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	291	47
KCNMA1	3778	broad.mit.edu	37	10	78647147	78647147	+	Silent	SNP	C	C	T	rs75138661		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:78647147C>T	ENST00000286627.5	-	27	4366	c.3414G>A	c.(3412-3414)tcG>tcA	p.S1138S	KCNMA1_ENST00000406533.3_Silent_p.S1200S|KCNMA1_ENST00000372443.1_Silent_p.S1165S|KCNMA1_ENST00000354353.5_Silent_p.S1199S|KCNMA1_ENST00000286628.8_Silent_p.S1196S|KCNMA1_ENST00000404857.1_Silent_p.S1179S|KCNMA1_ENST00000404771.3_Silent_p.S1196S|KCNMA1_ENST00000372440.1_Silent_p.S1138S	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1196					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TGGAGGACTGCGACGAGTGGG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	87	92			NA	NA	10		NA											NA				78647147		2203	4300	6503	SO:0001819	synonymous_variant			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113	3778	3778		Potassium channels, Voltage-gated ion channels / Potassium channels, calcium-activated	6284	protein-coding gene	gene with protein product	BK channel alpha subunit	600150		SLO	NA	7987297, 16382103	Standard	NM_002247	NM_002247	NA	Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286627.5:c.3414G>A	10.37:g.78647147C>T		NA	Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	37	CCDS7352.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.339|8.339	0.828282|0.828282	0.16749|0.16749	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372421;ENST00000434208|ENST00000372403	.|.	.|.	.|.	5.11|5.11	0.661|0.661	0.17874|0.17874	.|.	.|.	.|.	.|.	.|.	T|T	0.58047|0.58047	0.2095|0.2095	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.50583|0.50583	-0.8811|-0.8811	4|4	.|.	.|.	.|.	-9.7283|-9.7283	10.3757|10.3757	0.44081|0.44081	0.0:0.4673:0.3558:0.1768|0.0:0.4673:0.3558:0.1768	.|.	.|.	.|.	.|.	T|H	1127;846|1089	.|.	.|.	A|R	-|-	1|2	0|0	KCNMA1|KCNMA1	78317153|78317153	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.979000|0.979000	0.70002|0.70002	0.538000|0.538000	0.23160|0.23160	-0.168000|-0.168000	0.10853|0.10853	-0.384000|-0.384000	0.06662|0.06662	GCA|CGC	KCNMA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048877.3		-	ENST00000286627.5	Silent	SNP	10 : 78647147 - 78647147 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	492	94
SALL4	57167	broad.mit.edu	37	20	50406636	50406636	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50406636C>T	ENST00000395997.3	-	3	1217				SALL4_ENST00000371539.3_Intron|SALL4_ENST00000217086.4_Missense_Mutation_p.E796K			Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	NA					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTGATGCTTTCGGCTTGACTA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	75	76			NA	NA	20		NA											NA				50406636		2203	4300	6503	SO:0001627	intron_variant			AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115	57167	57167		Zinc fingers, C2H2-type	15924	protein-coding gene	gene with protein product		607343	sal (Drosophila)-like 4, sal-like 4 (Drosophila)		NA		Standard		NM_020436	NA	Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000395997.3:c.1151-956G>A	20.37:g.50406636C>T		NA	Q540H3	37		.	.	.	.	.	.	.	.	.	.	C	14.95	2.687702	0.48097	.	.	ENSG00000101115	ENST00000217086	T	0.09723	2.95	5.67	5.67	0.87782	.	0.162064	0.29246	N	0.012702	T	0.19725	0.0474	M	0.77820	2.39	0.80722	D	1	D	0.56968	0.978	B	0.43155	0.41	T	0.06826	-1.0805	10	0.25106	T	0.35	-22.0237	19.7711	0.96366	0.0:1.0:0.0:0.0	.	796	Q9UJQ4	SALL4_HUMAN	K	796	ENSP00000217086:E796K	ENSP00000217086:E796K	E	-	1	0	SALL4	49840043	0.929000	0.31497	0.817000	0.32601	0.670000	0.39368	3.108000	0.50337	2.654000	0.90174	0.655000	0.94253	GAA	SALL4-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000258918.2		-	ENST00000395997.3	Intron	SNP	20 : 50406636 - 50406636 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	357	80
SPATA33	124045	broad.mit.edu	37	16	89735829	89735829	+	Missense_Mutation	SNP	C	C	T	rs151036541		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89735829C>T	ENST00000301031.4	+	3	344	c.344C>T	c.(343-345)cCg>cTg	p.P115L	SPATA33_ENST00000579310.1_Missense_Mutation_p.P116L	NM_001271908.1|NM_153025.1	NP_001258837.1|NP_694570.1			spermatogenesis associated 33	NA											NA						ATTCGGGAGCCGGAGGACTGG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	LEU/PRO	0,4396		0,0,2198	64	71	68		344	-2.5	0	16	dbSNP_134	68	2,8598	3.0+/-9.4	0,2,4298	no	missense	C16orf55	NM_153025.1	98	0,2,6496	TT,TC,CC	NA	0.0233,0.0,0.0154	benign	115/140	89735829	2,12994	2198	4300	6498	SO:0001583	missense			AK056168	CCDS10983.1, CCDS62012.1, CCDS73929.1	16q24.3	2013-07-16	2013-07-05	2013-07-05	ENSG00000167523	ENSG00000167523	124045	124045			26463	protein-coding gene	gene with protein product		615409	chromosome 16 open reading frame 55	C16orf55	NA	23844118	Standard	NM_153025	NM_153025	NA	Approved	FLJ31606	uc010vpk.2	Q96N06	OTTHUMG00000138048	ENST00000301031.4:c.344C>T	16.37:g.89735829C>T	ENSP00000301031:p.Pro115Leu	NA		37	CCDS10983.1	.	.	.	.	.	.	.	.	.	.	C	8.085	0.773235	0.16051	0.0	2.33E-4	ENSG00000167523	ENST00000301031;ENST00000457689	T	0.42131	0.98	4.5	-2.49	0.06403	.	1.318630	0.05357	N	0.532915	T	0.20618	0.0496	N	0.14661	0.345	0.09310	N	1	B;B	0.24426	0.009;0.103	B;B	0.16722	0.007;0.016	T	0.09164	-1.0687	10	0.33940	T	0.23	-1.2635	1.0228	0.01521	0.3818:0.2983:0.1761:0.1438	.	116;115	B4DZN8;Q96N06	.;CP055_HUMAN	L	115;116	ENSP00000301031:P115L	ENSP00000301031:P115L	P	+	2	0	C16orf55	88263330	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.170000	0.09897	-0.797000	0.04450	-1.748000	0.00681	CCG	SPATA33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269924.2		+	ENST00000301031.4	Missense_Mutation	SNP	16 : 89735829 - 89735829 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	647	148
TMC2	117532	broad.mit.edu	37	20	2552886	2552886	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2552886C>T	ENST00000358864.1	+	5	631	c.616C>T	c.(616-618)Cta>Tta	p.L206L		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	206	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGGCAAGCAACTATATGCCTA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	111	113			NA	NA	20		NA											NA				2552886		2203	4300	6503	SO:0001819	synonymous_variant			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488	117532	117532			16527	protein-coding gene	gene with protein product		606707	transmembrane, cochlear expressed, 2	C20orf145	NA	11850618, 12906855	Standard		XM_005260660	NA	Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.616C>T	20.37:g.2552886C>T		NA	Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	37	CCDS13029.2																																																																																			TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077601.2		+	ENST00000358864.1	Silent	SNP	20 : 2552886 - 2552886 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	365	68
LIPG	9388	broad.mit.edu	37	18	47110052	47110052	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47110052G>T	ENST00000427224.2	+	7	1311	c.1062G>T	c.(1060-1062)aaG>aaT	p.K354N	LIPG_ENST00000261292.4_Missense_Mutation_p.K428N			Q9Y5X9	LIPE_HUMAN	lipase, endothelial	428	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						ACCTGTGGAAGGAGTTTCGCA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(126;280 1778 12814 26243 34948)							NA				0													78	69	72			NA	NA	18		NA											NA				47110052		2203	4300	6503	SO:0001583	missense			AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670	9388	9388			6623	protein-coding gene	gene with protein product		603684			NA	10318835, 10192396	Standard	NM_006033	XM_005258390	NA	Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000427224.2:c.1062G>T	18.37:g.47110052G>T	ENSP00000387978:p.Lys354Asn	NA	B0LPG6|Q6P9C8|Q6UW82	37		.	.	.	.	.	.	.	.	.	.	G	8.238	0.806250	0.16467	.	.	ENSG00000101670	ENST00000261292;ENST00000427224	D;D	0.86694	-2.16;-1.68	5.6	-1.66	0.08265	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.531819	0.23813	N	0.044313	T	0.61515	0.2353	N	0.05351	-0.065	0.09310	N	0.999991	B;B	0.17465	0.013;0.022	B;B	0.20955	0.032;0.02	T	0.54576	-0.8273	10	0.02654	T	1	-8.2979	1.0417	0.01560	0.2629:0.1916:0.3436:0.2018	.	354;428	B4DTR8;Q9Y5X9	.;LIPE_HUMAN	N	428;354	ENSP00000261292:K428N;ENSP00000387978:K354N	ENSP00000261292:K428N	K	+	3	2	LIPG	45364050	0.273000	0.24181	0.508000	0.27688	0.968000	0.65278	0.040000	0.13905	-0.211000	0.10124	0.561000	0.74099	AAG	LIPG-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000447547.1		+	ENST00000427224.2	Missense_Mutation	SNP	18 : 47110052 - 47110052 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	188	54
AHNAK	79026	broad.mit.edu	37	11	62303437	62303437	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62303437C>T	ENST00000378024.4	-	3	408	c.134G>A	c.(133-135)cGc>cAc	p.R45H	AHNAK_ENST00000530124.1_Missense_Mutation_p.R45H|AHNAK_ENST00000257247.7_Missense_Mutation_p.R45H	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	45	PDZ.				nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CACCCCAGTGCGGGCCGCAGG	0.682		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	11		NA											NA				62303437		2202	4299	6501	SO:0001583	missense			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942	79026	79026			347	protein-coding gene	gene with protein product	desmoyokin	103390	AHNAK nucleoprotein (desmoyokin)		NA	7987395, 12153988	Standard	NM_024060	NM_024060	NA	Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.134G>A	11.37:g.62303437C>T	ENSP00000367263:p.Arg45His	NA		37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076164	0.55646	.	.	ENSG00000124942	ENST00000530124;ENST00000257247;ENST00000533365;ENST00000378024;ENST00000530285;ENST00000528508;ENST00000531324	T;T;T;T;T;T;T	0.50548	1.51;1.51;1.51;0.74;1.51;1.51;1.51	5.36	5.36	0.76844	PDZ/DHR/GLGF (3);	0.111128	0.36303	U	0.002664	T	0.25082	0.0609	N	0.03608	-0.345	0.25316	N	0.989154	P;P	0.47545	0.887;0.897	B;B	0.42422	0.179;0.387	T	0.10800	-1.0614	10	0.54805	T	0.06	-8.3012	8.3138	0.32088	0.0:0.8318:0.0:0.1682	.	45;45	Q09666;A1A586	AHNK_HUMAN;.	H	45	ENSP00000433789:R45H;ENSP00000257247:R45H;ENSP00000433635:R45H;ENSP00000367263:R45H;ENSP00000433286:R45H;ENSP00000435357:R45H;ENSP00000436845:R45H	ENSP00000257247:R45H	R	-	2	0	AHNAK	62060013	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.672000	0.46850	2.512000	0.84698	0.655000	0.94253	CGC	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395572.1		-	ENST00000378024.4	Missense_Mutation	SNP	11 : 62303437 - 62303437 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	18
PSME4	23198	broad.mit.edu	37	2	54133798	54133798	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54133798G>A	ENST00000404125.1	-	26	2935	c.2880C>T	c.(2878-2880)taC>taT	p.Y960Y	PSME4_ENST00000421748.2_Silent_p.Y104Y	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	960					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GTATCTTTTTGTATTCACAAC	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	152	152			NA	NA	2		NA											NA				54133798		2203	4300	6503	SO:0001819	synonymous_variant			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878	23198	23198		Proteasome (prosome, macropain) subunits	20635	protein-coding gene	gene with protein product		607705			NA	7584044, 12093752	Standard	XM_040158	NM_014614	NA	Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.2880C>T	2.37:g.54133798G>A		NA	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	37	CCDS33197.2																																																																																			PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324163.1		-	ENST00000404125.1	Silent	SNP	2 : 54133798 - 54133798 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	463	76
CELSR2	1952	broad.mit.edu	37	1	109811858	109811858	+	Missense_Mutation	SNP	G	G	A	rs150344250		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109811858G>A	ENST00000271332.3	+	20	6819	c.6758G>A	c.(6757-6759)cGc>cAc	p.R2253H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2253					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ATCATCTACCGCACCCTGGCC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(158;1285 2011 34800 34852 42084)							NA				0								G	HIS/ARG	0,4406		0,0,2203	29	31	30		6758	3.7	1	1	dbSNP_134	30	11,8587		0,11,4288	yes	missense	CELSR2	NM_001408.2	29	0,11,6491	AA,AG,GG	NA	0.1279,0.0,0.0846	benign	2253/2924	109811858	11,12993	2203	4299	6502	SO:0001583	missense			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126	1952	1952		Cadherins / Major cadherins, -, GPCR / Class B : Orphans	3231	protein-coding gene	gene with protein product		604265	cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog	EGFL2	NA	9693030, 10907856	Standard	NM_001408	NM_001408	NA	Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.6758G>A	1.37:g.109811858G>A	ENSP00000271332:p.Arg2253His	NA	Q5T2Y7|Q92566	37	CCDS796.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358225	0.41801	0.0	0.001279	ENSG00000143126	ENST00000271332	T	0.11821	2.74	4.63	3.7	0.42460	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.03390	0.0098	N	0.25201	0.72	0.29053	N	0.884409	B	0.26400	0.148	B	0.22753	0.041	T	0.38045	-0.9679	9	0.33940	T	0.23	.	11.5909	0.50945	0.0893:0.0:0.9107:0.0	.	2253	Q9HCU4	CELR2_HUMAN	H	2253	ENSP00000271332:R2253H	ENSP00000271332:R2253H	R	+	2	0	CELSR2	109613381	0.998000	0.40836	1.000000	0.80357	0.857000	0.48899	3.856000	0.55964	1.156000	0.42514	0.462000	0.41574	CGC	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033200.1		+	ENST00000271332.3	Missense_Mutation	SNP	1 : 109811858 - 109811858 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	39
JAKMIP2	9832	broad.mit.edu	37	5	147040937	147040937	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147040937C>T	ENST00000265272.5	-	3	668	c.201G>A	c.(199-201)acG>acA	p.T67T	JAKMIP2_ENST00000333010.6_Silent_p.T25T|JAKMIP2_ENST00000507386.1_Silent_p.T67T	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	67						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACCAGCACCGTGTGCTTGC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	134	137			NA	NA	5		NA											NA				147040937		2203	4300	6503	SO:0001819	synonymous_variant			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049	9832	9832			29067	protein-coding gene	gene with protein product		611197			NA	9628581	Standard	NM_014790	NM_001270941	NA	Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.201G>A	5.37:g.147040937C>T		NA	A4ZZA7|A8K5G5|O60302|Q548S1	37	CCDS4285.1																																																																																			JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251941.1		-	ENST00000265272.5	Silent	SNP	5 : 147040937 - 147040937 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1053	189
INSL6	11172	broad.mit.edu	37	9	5164187	5164187	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5164187G>A	ENST00000381641.3	-	2	433	c.368C>T	c.(367-369)tCa>tTa	p.S123L	INSL6_ENST00000510407.1_5'UTR	NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	123						extracellular region	hormone activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		ACCAAGGGGTGAATATCCCTT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	91	91			NA	NA	9		NA											NA				5164187		2203	4298	6501	SO:0001583	missense			AF156094	CCDS6458.1	9p24	2008-07-21			ENSG00000120210	ENSG00000120210	11172	11172			6089	protein-coding gene	gene with protein product	relaxin/insulin-like factor 1	606414			NA	10819760	Standard	NM_007179	NM_007179	NA	Approved	RIF1	uc003zix.3	Q9Y581	OTTHUMG00000019489	ENST00000381641.3:c.368C>T	9.37:g.5164187G>A	ENSP00000371054:p.Ser123Leu	NA	A0AVS0|Q9NS16	37	CCDS6458.1	.	.	.	.	.	.	.	.	.	.	G	6.961	0.547171	0.13312	.	.	ENSG00000120210	ENST00000381641	T	0.48522	0.81	4.2	-0.793	0.10922	Insulin-like (3);	2.496800	0.01306	N	0.010478	T	0.23094	0.0558	N	0.02802	-0.49	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17137	-1.0379	10	0.13470	T	0.59	0.3335	7.5577	0.27833	0.7562:0.0:0.2438:0.0	.	123	Q9Y581	INSL6_HUMAN	L	123	ENSP00000371054:S123L	ENSP00000371054:S123L	S	-	2	0	INSL6	5154187	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	0.126000	0.15769	-0.124000	0.11724	0.591000	0.81541	TCA	INSL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051608.3		-	ENST00000381641.3	Missense_Mutation	SNP	9 : 5164187 - 5164187 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	497	85
EMC7	56851	broad.mit.edu	37	15	34380269	34380269	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34380269A>G	ENST00000256545.4	-	4	669	c.561T>C	c.(559-561)gaT>gaC	p.D187D		NM_020154.2	NP_064539.1			ER membrane protein complex subunit 7	NA											NA						TCATGTCAGGATCACTTGTGT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	77	79			NA	NA	15		NA											NA				34380269		2201	4298	6499	SO:0001819	synonymous_variant			AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153	56851	56851			24301	protein-coding gene	gene with protein product			chromosome 15 open reading frame 24	C15orf24	NA	10873569, 22119785	Standard	NM_020154	NM_020154	NA	Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.561T>C	15.37:g.34380269A>G		NA		37	CCDS10032.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.889|8.889	0.953593|0.953593	0.18431|0.18431	.|.	.|.	ENSG00000134153|ENSG00000134153	ENST00000528949|ENST00000527822	.|.	.|.	.|.	5.54|5.54	1.93|1.93	0.25924|0.25924	.|.	.|.	.|.	.|.	.|.	T|T	0.57533|0.57533	0.2060|0.2060	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.49123|0.49123	-0.8972|-0.8972	4|4	.|.	.|.	.|.	-15.6203|-15.6203	8.7488|8.7488	0.34602|0.34602	0.7228:0.0:0.2772:0.0|0.7228:0.0:0.2772:0.0	.|.	.|.	.|.	.|.	T|P	123|137	.|.	.|.	I|S	-|-	2|1	0|0	C15orf24|C15orf24	32167561|32167561	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.850000|0.850000	0.27737|0.27737	0.161000|0.161000	0.19458|0.19458	0.528000|0.528000	0.53228|0.53228	ATC|TCC	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251519.1		-	ENST00000256545.4	Silent	SNP	15 : 34380269 - 34380269 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	117	7
ATP5J2-PTCD1	100526740	broad.mit.edu	37	7	99047943	99047943	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99047943G>A	ENST00000413834.1	-	2	144				CPSF4_ENST00000471455.1_3'UTR|ATP5J2_ENST00000466753.1_Intron|ATP5J2-PTCD1_ENST00000437572.1_Intron|CPSF4_ENST00000436336.2_Missense_Mutation_p.E118K|CPSF4_ENST00000292476.5_Missense_Mutation_p.E118K|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000441580.1_Missense_Mutation_p.E65K|CPSF4_ENST00000451876.1_Intron			B4DJ38	B4DJ38_HUMAN	ATP5J2-PTCD1 readthrough	NA											NA						CATCGACCCCGAGTCCAAGAT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	68	74			NA	NA	7		NA											NA				99047943		2203	4300	6503	SO:0001627	intron_variant				CCDS56496.1	7q22.1	2011-02-21			ENSG00000248919	ENSG00000248919	100526740	100526740			38844	other	readthrough					NA		Standard	NM_001198879.1	NM_001198879	NA	Approved		uc011kiw.2		OTTHUMG00000160779	ENST00000413834.1:c.121+9765C>T	7.37:g.99047943G>A		NA		37	CCDS56496.1	.	.	.	.	.	.	.	.	.	.	G	35	5.548760	0.96488	.	.	ENSG00000160917	ENST00000436336;ENST00000292476;ENST00000441580;ENST00000412686;ENST00000452047	T;T;T;T;T	0.32023	1.94;1.85;1.5;1.9;1.47	5.93	5.93	0.95920	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	T	0.44746	0.1308	L	0.49571	1.57	0.80722	D	1	D;D;D;D	0.64830	0.994;0.976;0.96;0.979	P;P;P;P	0.55011	0.598;0.703;0.508;0.766	T	0.03717	-1.1010	10	0.22109	T	0.4	-22.6792	20.3409	0.98764	0.0:0.0:1.0:0.0	.	65;118;118;118	B7Z7B0;O95639-3;O95639;O95639-2	.;.;CPSF4_HUMAN;.	K	118;118;65;65;85	ENSP00000395311:E118K;ENSP00000292476:E118K;ENSP00000402224:E65K;ENSP00000401150:E65K;ENSP00000392584:E85K	ENSP00000292476:E118K	E	+	1	0	CPSF4	98885879	1.000000	0.71417	0.979000	0.43373	0.990000	0.78478	9.476000	0.97823	2.814000	0.96858	0.655000	0.94253	GAG	ATP5J2-PTCD1-001	KNOWN	basic|appris_principal|readthrough_transcript|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362258.1		-	ENST00000413834.1	Intron	SNP	7 : 99047943 - 99047943 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	174	35
DDB1	1642	broad.mit.edu	37	11	61068386	61068386	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61068386G>A	ENST00000301764.7	-	26	3631	c.3234C>T	c.(3232-3234)acC>acT	p.T1078T	DDB1_ENST00000538470.1_Silent_p.T125T|DDB1_ENST00000451943.2_Silent_p.T65T|DDB1_ENST00000450997.2_Silent_p.T389T	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1078	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TCTTCCGCTCGGTGTGAAAGG	0.512		NA						Nucleotide excision repair (NER)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	138	144			NA	NA	11		NA											NA				61068386		2203	4299	6502	SO:0001819	synonymous_variant			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986	1642	1642			2717	protein-coding gene	gene with protein product		600045	damage-specific DNA binding protein 1 (127kD)		NA	8530102, 10574459	Standard	NM_001923	NM_001923	NA	Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.3234C>T	11.37:g.61068386G>A		NA	A6NG77|B2R648|O15176|Q13289|Q58F96	37	CCDS31576.1																																																																																			DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398816.1		-	ENST00000301764.7	Silent	SNP	11 : 61068386 - 61068386 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	20
DSC1	1823	broad.mit.edu	37	18	28725591	28725591	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28725591G>A	ENST00000257197.3	-	7	1183	c.922C>T	c.(922-924)Cct>Tct	p.P308S	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.P308S	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	308	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TCCAGAAAAGGTGTAGTTGTG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	SER/PRO,SER/PRO	2,4404	4.2+/-10.8	0,2,2201	159	154	156		922,922	-0.6	0	18		156	0,8600		0,0,4300	no	missense,missense	DSC1	NM_024421.2,NM_004948.3	74,74	0,2,6501	AA,AG,GG	NA	0.0,0.0454,0.0154	benign,benign	308/895,308/841	28725591	2,13004	2203	4300	6503	SO:0001583	missense			AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765	1823	1823		Cadherins / Major cadherins	3035	protein-coding gene	gene with protein product		125643			NA	8486729	Standard	NM_004948, NM_024421	NM_024421	NA	Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257197.3:c.922C>T	18.37:g.28725591G>A	ENSP00000257197:p.Pro308Ser	NA	Q9HB01	37	CCDS11895.1	.	.	.	.	.	.	.	.	.	.	G	0.093	-1.164066	0.01673	4.54E-4	0.0	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.54675	0.56;0.56	5.32	-0.572	0.11745	Cadherin (4);Cadherin-like (1);	0.446761	0.18957	N	0.126507	T	0.22475	0.0542	N	0.05554	-0.025	0.09310	N	1	B;B	0.18461	0.028;0.012	B;B	0.15052	0.012;0.012	T	0.14254	-1.0479	10	0.13853	T	0.58	.	4.2214	0.10559	0.3703:0.0:0.3952:0.2345	.	308;308	Q08554;Q9HB00	DSC1_HUMAN;.	S	308	ENSP00000257197:P308S;ENSP00000257198:P308S	ENSP00000257197:P308S	P	-	1	0	DSC1	26979589	0.000000	0.05858	0.000000	0.03702	0.940000	0.58332	-0.228000	0.09114	0.182000	0.20032	0.484000	0.47621	CCT	DSC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254945.1		-	ENST00000257197.3	Missense_Mutation	SNP	18 : 28725591 - 28725591 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	554	97
THSD1	55901	broad.mit.edu	37	13	52952067	52952067	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52952067C>T	ENST00000349258.4	-	4	2423	c.1879G>A	c.(1879-1881)Gcc>Acc	p.A627T	THSD1_ENST00000258613.4_Missense_Mutation_p.A680T|THSD1_ENST00000544466.1_Missense_Mutation_p.A301T	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	680						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GAGCTGTAGGCAGGGGCCTGC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	25	25			NA	NA	13		NA											NA				52952067		2203	4300	6503	SO:0001583	missense			AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114	55901	55901			17754	protein-coding gene	gene with protein product			thrombospondin, type I, domain 1		NA		Standard		NM_018676	NA	Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000349258.4:c.1879G>A	13.37:g.52952067C>T	ENSP00000340650:p.Ala627Thr	NA	A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	37	CCDS9433.1	.	.	.	.	.	.	.	.	.	.	C	5.369	0.253253	0.10185	.	.	ENSG00000136114	ENST00000349258;ENST00000544466;ENST00000258613	T;T;T	0.31247	2.23;1.5;2.42	5.55	-2.05	0.07321	.	0.689879	0.14610	N	0.309077	T	0.18759	0.0450	L	0.40543	1.245	0.09310	N	1	B;B	0.14438	0.005;0.01	B;B	0.14023	0.01;0.006	T	0.14531	-1.0469	10	0.46703	T	0.11	-2.5637	2.9248	0.05780	0.1065:0.3323:0.1151:0.4461	.	627;680	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	T	627;301;680	ENSP00000340650:A627T;ENSP00000438512:A301T;ENSP00000258613:A680T	ENSP00000258613:A680T	A	-	1	0	THSD1	51850068	0.000000	0.05858	0.015000	0.15790	0.078000	0.17371	-0.176000	0.09811	-0.899000	0.03901	-0.267000	0.10333	GCC	THSD1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276383.1		-	ENST00000349258.4	Missense_Mutation	SNP	13 : 52952067 - 52952067 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	53
KCNA7	3743	broad.mit.edu	37	19	49573470	49573470	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49573470G>A	ENST00000221444.1	-	2	1576	c.1221C>T	c.(1219-1221)ggC>ggT	p.G407G		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	407						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		CAGCCTCTTCGCCCTCTGTCT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(74;686 1235 3793 23366 48562)							NA				0													72	68	69			NA	NA	19		NA											NA				49573470		2203	4300	6503	SO:0001819	synonymous_variant			AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848	3743	3743		Potassium channels, Voltage-gated ion channels / Potassium channels	6226	protein-coding gene	gene with protein product		176268			NA	16382104	Standard	NM_031886	NM_031886	NA	Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.1221C>T	19.37:g.49573470G>A		NA	A1KYX7|Q9BYS4	37	CCDS12755.1																																																																																			KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466263.1		-	ENST00000221444.1	Silent	SNP	19 : 49573470 - 49573470 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	376	89
MRC2	9902	broad.mit.edu	37	17	60767314	60767314	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60767314C>T	ENST00000303375.5	+	25	4035	c.3633C>T	c.(3631-3633)gaC>gaT	p.D1211D	MRC2_ENST00000446119.2_Silent_p.D77D	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1211	C-type lectin 7.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCTGGCAGGACGGGGAGCCGC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	18	16			NA	NA	17		NA											NA				60767314		2192	4285	6477	SO:0001819	synonymous_variant			AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028	9902	9902		CD molecules, C-type lectin domain containing	16875	protein-coding gene	gene with protein product		612264			NA	9734811, 8702911	Standard		NM_006039	NA	Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.3633C>T	17.37:g.60767314C>T		NA	A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	37	CCDS11634.1																																																																																			MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445152.1		+	ENST00000303375.5	Silent	SNP	17 : 60767314 - 60767314 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	149	34
NAA16	79612	broad.mit.edu	37	13	41899884	41899884	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:41899884G>T	ENST00000379406.3	+	6	912	c.588G>T	c.(586-588)caG>caT	p.Q196H	NAA16_ENST00000379367.3_Missense_Mutation_p.Q196H|NAA16_ENST00000403412.3_Missense_Mutation_p.Q196H	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	196					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TATTATACCAGAATCAAGTGA	0.284		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	64	61			NA	NA	13		NA											NA				41899884		2203	4299	6502	SO:0001583	missense			AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766	79612	79612		N(alpha)-acetyltransferase subunits, Tetratricopeptide (TTC) repeat domain containing	26164	protein-coding gene	gene with protein product			NMDA receptor regulated 1-like	NARG1L	NA	11483580, 19660095	Standard	NM_018527	NM_024561	NA	Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.588G>T	13.37:g.41899884G>T	ENSP00000368716:p.Gln196His	NA	B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	37	CCDS9379.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.540615	0.65085	.	.	ENSG00000172766	ENST00000379367;ENST00000379406;ENST00000403412	T;T;T	0.45668	0.89;0.89;0.89	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000006	T	0.56863	0.2014	L	0.52573	1.65	0.58432	D	0.999997	D;D;D	0.89917	1.0;0.994;1.0	D;D;D	0.81914	0.995;0.967;0.986	T	0.52540	-0.8562	10	0.35671	T	0.21	-7.1618	14.0039	0.64451	0.0756:0.0:0.9244:0.0	.	196;196;196	Q6N069;Q6N069-4;Q6N069-5	NAA16_HUMAN;.;.	H	196	ENSP00000368674:Q196H;ENSP00000368716:Q196H;ENSP00000386103:Q196H	ENSP00000368674:Q196H	Q	+	3	2	NAA16	40797884	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.847000	0.48270	2.418000	0.82041	0.557000	0.71058	CAG	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044672.2		+	ENST00000379406.3	Missense_Mutation	SNP	13 : 41899884 - 41899884 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	267	26
CD1E	913	broad.mit.edu	37	1	158325793	158325793	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158325793T>C	ENST00000368160.3	+	4	802	c.802T>C	c.(802-804)Tat>Cat	p.Y268H	CD1E_ENST00000452291.2_Missense_Mutation_p.Y79H|CD1E_ENST00000368165.3_Missense_Mutation_p.Y178H|CD1E_ENST00000368166.3_Missense_Mutation_p.Y79H|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.Y266H|CD1E_ENST00000368156.1_Missense_Mutation_p.Y178H|CD1E_ENST00000368167.3_Missense_Mutation_p.Y268H|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368161.3_Splice_Site|CD1E_ENST00000444681.2_Missense_Mutation_p.Y169H|CD1E_ENST00000368164.3_Splice_Site|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368154.1_Intron	NM_001042583.2	NP_001036048.1	P15812	CD1E_HUMAN	CD1e molecule	268	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CGAGACATGGTATCTCCGAGC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	107	107			NA	NA	1		NA											NA				158325793		2203	4300	6503	SO:0001583	missense			AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488	913	913		CD molecules, Immunoglobulin superfamily / C1-set domain containing	1638	protein-coding gene	gene with protein product		188411	CD1E antigen, e polypeptide, CD1e antigen		NA	10948205	Standard	NM_030893	NM_001042585	NA	Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368160.3:c.802T>C	1.37:g.158325793T>C	ENSP00000357142:p.Tyr268His	NA	B4DZV3|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	37	CCDS41418.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.43|13.43	2.235311|2.235311	0.39498|0.39498	.|.	.|.	ENSG00000158488|ENSG00000158488	ENST00000368164;ENST00000368161;ENST00000368162|ENST00000434258;ENST00000444681;ENST00000368167;ENST00000452291;ENST00000368165;ENST00000368166;ENST00000368160;ENST00000368156	.|T;T;T;T;T;T;T;T	.|0.14144	.|2.53;2.53;2.53;2.53;4.18;2.53;2.53;4.18	4.38|4.38	3.23|3.23	0.37069|0.37069	.|Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	.|0.371926	.|0.19941	.|N	.|0.102654	.|T	.|0.15609	.|0.0376	M|M	0.72894|0.72894	2.215|2.215	0.25800|0.25800	N|N	0.984516|0.984516	.|D;P;D;P;P;P;P;D;P;D;P	.|0.58268	.|0.958;0.953;0.982;0.951;0.659;0.549;0.896;0.981;0.953;0.97;0.871	.|P;P;P;P;D;P;P;P;D;D;P	.|0.65987	.|0.895;0.872;0.863;0.863;0.94;0.868;0.774;0.864;0.926;0.931;0.826	.|T	.|0.06445	.|-1.0826	.|10	.|0.31617	.|T	.|0.26	.|-3.3614	7.8875|7.8875	0.29659|0.29659	0.0:0.0:0.21:0.79|0.0:0.0:0.21:0.79	.|.	.|79;169;266;268;169;178;79;268;268;79;178	.|B4E057;B4E042;E7ET31;A2RRL5;E7EP01;P15812-5;P15812-9;P15812-2;P15812;P15812-8;P15812-6	.|.;.;.;.;.;.;.;.;CD1E_HUMAN;.;.	.|H	-1|266;169;268;79;178;79;268;178	.|ENSP00000401957:Y266H;ENSP00000402906:Y169H;ENSP00000357149:Y268H;ENSP00000416228:Y79H;ENSP00000357147:Y178H;ENSP00000357148:Y79H;ENSP00000357142:Y268H;ENSP00000357138:Y178H	.|ENSP00000357138:Y178H	.|Y	+|+	.|1	.|0	CD1E|CD1E	156592417|156592417	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.697000|0.697000	0.40408|0.40408	2.127000|2.127000	0.42035|0.42035	0.706000|0.706000	0.31912|0.31912	0.460000|0.460000	0.39030|0.39030	.|TAT	CD1E-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046357.2		+	ENST00000368160.3	Missense_Mutation	SNP	1 : 158325793 - 158325793 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	716	45
PCDHGB7	56099	broad.mit.edu	37	5	140798805	140798805	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140798805A>G	ENST00000398594.2	+	1	1379	c.1379A>G	c.(1378-1380)cAc>cGc	p.H460R	PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018927.3	NP_061750.1			protocadherin gamma subfamily B, 7	NA										central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACCTGGTCCACGTGCCAGAA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	87	83			NA	NA	5		NA											NA				140798805		2128	4245	6373	SO:0001583	missense			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122	56099	56099		Cadherins / Protocadherins : Clustered	8714	other	protocadherin	cadherin ME6	606304			NA	10380929	Standard	NM_018927	NM_032101	NA	Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1379A>G	5.37:g.140798805A>G	ENSP00000381594:p.His460Arg	NA		37	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	a	14.31	2.497983	0.44455	.	.	ENSG00000254122	ENST00000398594	T	0.49139	0.79	5.39	5.39	0.77823	Cadherin (4);Cadherin-like (1);	1.371310	0.06276	U	0.696544	T	0.49525	0.1562	N	0.11284	0.12	0.23126	N	0.998253	P;P	0.49783	0.928;0.907	P;P	0.55260	0.772;0.586	T	0.57248	-0.7844	10	0.66056	D	0.02	.	15.0833	0.72130	1.0:0.0:0.0:0.0	.	460;460	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	R	460	ENSP00000381594:H460R	ENSP00000381594:H460R	H	+	2	0	PCDHGB7	140778989	0.000000	0.05858	0.083000	0.20561	0.702000	0.40608	1.074000	0.30703	2.036000	0.60181	0.402000	0.26972	CAC	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376973.1		+	ENST00000398594.2	Missense_Mutation	SNP	5 : 140798805 - 140798805 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	486	81
KIF13A	63971	broad.mit.edu	37	6	17788054	17788054	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17788054C>T	ENST00000378814.5	-	26	3274	c.3275G>A	c.(3274-3276)cGa>cAa	p.R1092Q	KIF13A_ENST00000378843.2_Missense_Mutation_p.R1092Q|KIF13A_ENST00000259711.6_Missense_Mutation_p.R1105Q|KIF13A_ENST00000378816.5_Missense_Mutation_p.R1105Q|KIF13A_ENST00000378826.2_Missense_Mutation_p.R1105Q	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1105					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GTATTCTCGTCGTTTAATGAG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													308	283	291			NA	NA	6		NA											NA				17788054		1891	4124	6015	SO:0001583	missense			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177	63971	63971		Kinesins	14566	protein-coding gene	gene with protein product		605433			NA	11106728	Standard		NM_022113	NA	Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000378814.5:c.3275G>A	6.37:g.17788054C>T	ENSP00000368091:p.Arg1092Gln	NA	A0JP21|A0JP22|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	37	CCDS47380.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.779455|5.779455	0.96929|0.96929	.|.	.|.	ENSG00000137177|ENSG00000137177	ENST00000358380|ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816;ENST00000506044	.|T;T;T;T;T;T	.|0.79554	.|-1.27;0.99;-1.28;-1.25;-1.27;-1.25	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.89455|0.89455	0.6720|0.6720	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.987;0.998;0.999;0.998	D|D	0.89481|0.89481	0.3750|0.3750	5|10	.|0.87932	.|D	.|0	.|.	20.2723|20.2723	0.98479|0.98479	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1092;1105;1105;1092	.|Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.|.;.;KI13A_HUMAN;.	N|Q	499|1092;109;1105;1105;1092;1105;103	.|ENSP00000368091:R1092Q;ENSP00000425616:R109Q;ENSP00000259711:R1105Q;ENSP00000368103:R1105Q;ENSP00000368120:R1092Q;ENSP00000368093:R1105Q	.|ENSP00000259711:R1105Q	D|R	-|-	1|2	0|0	KIF13A|KIF13A	17896033|17896033	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.966000|0.966000	0.64601|0.64601	7.776000|7.776000	0.85560|0.85560	2.793000|2.793000	0.96121|0.96121	0.563000|0.563000	0.77884|0.77884	GAC|CGA	KIF13A-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367778.1		-	ENST00000378814.5	Missense_Mutation	SNP	6 : 17788054 - 17788054 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	748	131
DHX15	1665	broad.mit.edu	37	4	24538792	24538792	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:24538792T>C	ENST00000336812.4	-	11	1947	c.1791A>G	c.(1789-1791)ccA>ccG	p.P597P	DHX15_ENST00000508032.1_5'UTR	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	597					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				CAAAACACTGTGGGACTAAAC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	93	99			NA	NA	4		NA											NA				24538792		2203	4300	6503	SO:0001819	synonymous_variant			AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606	1665	1665		DEAH-boxes	2738	protein-coding gene	gene with protein product		603403	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15, DEAH (Asp-Glu-Ala-His) box polypeptide 15	DDX15	NA	9388478	Standard	NM_001358	NM_001358	NA	Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.1791A>G	4.37:g.24538792T>C		NA	Q9NQT7	37	CCDS33966.1																																																																																			DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360143.1		-	ENST00000336812.4	Silent	SNP	4 : 24538792 - 24538792 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	146	31
RYR1	6261	broad.mit.edu	37	19	38993325	38993325	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38993325C>T	ENST00000355481.4	+	48	7924	c.7793C>T	c.(7792-7794)gCg>gTg	p.A2598V	RYR1_ENST00000359596.3_Missense_Mutation_p.A2598V|RYR1_ENST00000360985.3_Missense_Mutation_p.A2598V	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2598	6 X approximate repeats.				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)	CTCACCAAGGCGCAGCGTGAC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	56	61			NA	NA	19		NA											NA				38993325		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.7793C>T	19.37:g.38993325C>T	ENSP00000347667:p.Ala2598Val	NA	Q16314|Q16368|Q9NPK1|Q9P1U4	37	CCDS42563.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823087	0.50739	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.93307	-3.2;-3.2;-3.2	4.08	4.08	0.47627	.	0.000000	0.64402	U	0.000003	D	0.96306	0.8795	M	0.79475	2.455	0.53688	D	0.999971	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.98	D	0.96802	0.9590	10	0.72032	D	0.01	.	15.5776	0.76404	0.0:1.0:0.0:0.0	.	2598;2598	P21817-2;P21817	.;RYR1_HUMAN	V	2598	ENSP00000352608:A2598V;ENSP00000347667:A2598V;ENSP00000354254:A2598V	ENSP00000347667:A2598V	A	+	2	0	RYR1	43685165	1.000000	0.71417	0.995000	0.50966	0.131000	0.20780	7.500000	0.81588	2.265000	0.75225	0.467000	0.42956	GCG	RYR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461017.2		+	ENST00000355481.4	Missense_Mutation	SNP	19 : 38993325 - 38993325 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	298	51
ATP2A1	487	broad.mit.edu	37	16	28913250	28913250	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28913250G>A	ENST00000395503.4	+	16	2351	c.2167G>A	c.(2167-2169)Ggc>Agc	p.G723S	ATP2A1_ENST00000536376.1_Missense_Mutation_p.G598S|ATP2A1_ENST00000357084.3_Missense_Mutation_p.G723S	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	723					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CATGGGATCTGGCACTGCCGT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	75	83			NA	NA	16		NA											NA				28913250		2197	4300	6497	SO:0001583	missense				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	487	487	3.6.3.8	ATPases / P-type	811	protein-coding gene	gene with protein product	sarcoplasmic/endoplasmic reticulum calcium ATPase 1, calcium pump 1	108730		ATP2A	NA		Standard	NM_004320	NM_004320	NA	Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000395503.4:c.2167G>A	16.37:g.28913250G>A	ENSP00000378879:p.Gly723Ser	NA	A8K5J9|O14984	37	CCDS42139.1	.	.	.	.	.	.	.	.	.	.	G	34	5.311291	0.95655	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.99214	-5.57;-5.57;-5.57	5.27	5.27	0.74061	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.048624	0.85682	D	0.000000	D	0.99648	0.9870	H	0.97962	4.115	0.80722	D	1	D;D;D	0.58970	0.984;0.98;0.96	P;P;D	0.64042	0.796;0.835;0.921	D	0.97501	1.0060	10	0.87932	D	0	.	17.6376	0.88127	0.0:0.0:1.0:0.0	.	598;723;723	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	S	723;723;760;598	ENSP00000349595:G723S;ENSP00000378879:G723S;ENSP00000443101:G598S	ENSP00000349595:G723S	G	+	1	0	ATP2A1	28820751	1.000000	0.71417	0.922000	0.36590	0.900000	0.52787	9.761000	0.98940	2.460000	0.83146	0.561000	0.74099	GGC	ATP2A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254687.2		+	ENST00000395503.4	Missense_Mutation	SNP	16 : 28913250 - 28913250 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	50
NUDCD1	84955	broad.mit.edu	37	8	110283254	110283254	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110283254T>C	ENST00000239690.4	-	8	1653	c.1279A>G	c.(1279-1281)Aca>Gca	p.T427A	NUDCD1_ENST00000427660.2_Missense_Mutation_p.T398A	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	427										breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			GTTTTTAATGTATTGCCATCA	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	109	108			NA	NA	8		NA											NA				110283254		2203	4295	6498	SO:0001583	missense			AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526	84955	84955			24306	protein-coding gene	gene with protein product		606109			NA	11416219	Standard	NM_032869	NM_032869	NA	Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.1279A>G	8.37:g.110283254T>C	ENSP00000239690:p.Thr427Ala	NA	B4DVX6|Q4G130|Q8NDQ5|Q8NG18|Q96SI4|Q9BVR5	37	CCDS6312.1	.	.	.	.	.	.	.	.	.	.	T	2.592	-0.294889	0.05568	.	.	ENSG00000120526	ENST00000239690;ENST00000427660	T;T	0.18810	2.19;2.19	6.0	3.59	0.41128	.	0.210241	0.49305	D	0.000152	T	0.12774	0.0310	L	0.39397	1.21	0.09310	N	0.999999	B;B;B	0.27498	0.18;0.001;0.043	B;B;B	0.22753	0.041;0.002;0.018	T	0.28073	-1.0055	10	0.17369	T	0.5	-0.6864	3.6097	0.08055	0.1331:0.0704:0.1391:0.6574	.	340;427;398	Q96RS6-3;Q96RS6;Q96RS6-2	.;NUDC1_HUMAN;.	A	427;398	ENSP00000239690:T427A;ENSP00000410707:T398A	ENSP00000239690:T427A	T	-	1	0	NUDCD1	110352430	0.997000	0.39634	0.107000	0.21349	0.002000	0.02628	2.764000	0.47613	0.494000	0.27859	-0.256000	0.11100	ACA	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380996.1		-	ENST00000239690.4	Missense_Mutation	SNP	8 : 110283254 - 110283254 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	408	93
XIRP2	129446	broad.mit.edu	37	2	168103993	168103993	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168103993G>T	ENST00000409195.1	+	9	6180	c.6091G>T	c.(6091-6093)Gat>Tat	p.D2031Y	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1809Y|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D2031Y|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1856					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATTGTCATAGATCGTGAACA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	60	62			NA	NA	2		NA											NA				168103993		1847	4090	5937	SO:0001583	missense			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092	129446	129446			14303	protein-coding gene	gene with protein product	myomaxin	609778	cardiomyopathy associated 3	CMYA3	NA	17046827, 12203715, 15454575	Standard	NM_152381	NM_001079810	NA	Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.6091G>T	2.37:g.168103993G>T	ENSP00000386840:p.Asp2031Tyr	NA	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165017	0.38217	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.23147	1.92;1.92;1.92	5.73	4.85	0.62838	.	0.574989	0.19405	N	0.115071	T	0.43678	0.1258	M	0.63428	1.95	0.37711	D	0.924572	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.69479	0.921;0.964;0.964	T	0.49818	-0.8899	10	0.72032	D	0.01	-17.3679	7.9073	0.29769	0.2391:0.0:0.7609:0.0	.	1856;1856;1809	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Y	2031;2031;1809	ENSP00000386840:D2031Y;ENSP00000295237:D2031Y;ENSP00000387255:D1809Y	ENSP00000295237:D2031Y	D	+	1	0	XIRP2	167812239	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.304000	0.43655	1.441000	0.47550	-0.145000	0.13849	GAT	XIRP2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333547.1		+	ENST00000409195.1	Missense_Mutation	SNP	2 : 168103993 - 168103993 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	353	88
STAG3	10734	broad.mit.edu	37	7	99811415	99811415	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99811415G>A	ENST00000426455.1	+	33	4062	c.3655G>A	c.(3655-3657)Gag>Aag	p.E1219K	STAG3_ENST00000394018.2_Missense_Mutation_p.E1161K|GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Missense_Mutation_p.E1219K|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000436886.2_Intron	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	1219					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGATTCTACAGAGCTGGATAT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	115	117			NA	NA	7		NA											NA				99811415		2203	4300	6503	SO:0001583	missense			AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923	10734	10734			11356	protein-coding gene	gene with protein product		608489			NA	10698974	Standard	NM_012447	XM_005250116	NA	Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.3655G>A	7.37:g.99811415G>A	ENSP00000400359:p.Glu1219Lys	NA	A6H8Z1|D6W5U8|Q8NDP3	37	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	g	24.8	4.576279	0.86645	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000339784;ENST00000379577;ENST00000317296;ENST00000412190	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	5.0	5.0	0.66597	.	0.000000	0.39544	N	0.001340	T	0.45316	0.1336	L	0.60455	1.87	0.80722	D	1	D;D;D	0.63880	0.993;0.993;0.993	D;D;D	0.70935	0.971;0.971;0.971	T	0.16719	-1.0393	10	0.44086	T	0.13	-20.6421	13.9825	0.64313	0.0:0.0:1.0:0.0	.	1161;1220;1219	B4DZ10;D6W5U7;Q9UJ98	.;.;STAG3_HUMAN	K	1219;1161;882;240;1219;178	ENSP00000400359:E1219K;ENSP00000377586:E1161K;ENSP00000319318:E1219K;ENSP00000395039:E178K	ENSP00000319318:E1219K	E	+	1	0	STAG3	99649351	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	3.980000	0.56895	2.741000	0.93983	0.655000	0.94253	GAG	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000338734.2		+	ENST00000426455.1	Missense_Mutation	SNP	7 : 99811415 - 99811415 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	604	33
HIVEP1	3096	broad.mit.edu	37	6	12124078	12124078	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:12124078C>T	ENST00000379388.2	+	4	4382	c.4050C>T	c.(4048-4050)ggC>ggT	p.G1350G		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1350					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TTCCAGCTGGCTTGAATACTC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	64	65			NA	NA	6		NA											NA				12124078		1902	4128	6030	SO:0001819	synonymous_variant			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951	3096	3096		Zinc fingers, C2H2-type	4920	protein-coding gene	gene with protein product		194540	human immunodeficiency virus type I enhancer-binding protein 1, zinc finger protein 40	ZNF40	NA	2037300	Standard	NM_002114	XR_241895	NA	Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.4050C>T	6.37:g.12124078C>T		NA	B2RTU3|Q14122|Q5MPB1|Q5VW60	37	CCDS43426.1																																																																																			HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039870.2		+	ENST00000379388.2	Silent	SNP	6 : 12124078 - 12124078 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	272	14
GRIN2D	2906	broad.mit.edu	37	19	48908591	48908591	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48908591C>T	ENST00000263269.3	+	3	1154	c.1066C>T	c.(1066-1068)Cgc>Tgc	p.R356C		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	356						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CCGCACCCACCGCGGCGAGAG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	17	16			NA	NA	19		NA											NA				48908591		2201	4294	6495	SO:0001583	missense			U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464	2906	2906		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4588	protein-coding gene	gene with protein product	N-methyl-d-aspartate receptor subunit 2D	602717		NMDAR2D	NA	9480759, 9418891	Standard		NM_000836	NA	Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1066C>T	19.37:g.48908591C>T	ENSP00000263269:p.Arg356Cys	NA		37	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134044	0.56828	.	.	ENSG00000105464	ENST00000263269	T	0.16073	2.37	4.32	4.32	0.51571	.	0.456329	0.18899	N	0.128097	T	0.17874	0.0429	L	0.44542	1.39	0.37251	D	0.906555	D	0.71674	0.998	P	0.48654	0.585	T	0.05468	-1.0883	10	0.56958	D	0.05	.	5.8638	0.18762	0.1928:0.7069:0.0:0.1002	.	356	O15399	NMDE4_HUMAN	C	356	ENSP00000263269:R356C	ENSP00000263269:R356C	R	+	1	0	GRIN2D	53600403	0.238000	0.23825	1.000000	0.80357	0.915000	0.54546	1.184000	0.32053	2.116000	0.64780	0.561000	0.74099	CGC	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466121.1		+	ENST00000263269.3	Missense_Mutation	SNP	19 : 48908591 - 48908591 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	112	25
TNFSF12-TNFSF13	407977	broad.mit.edu	37	17	7460175	7460175	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7460175G>A	ENST00000293826.4	+	6	509	c.454G>A	c.(454-456)Gag>Aag	p.E152K	TNFSF12_ENST00000557233.1_Missense_Mutation_p.E152K|TNFSF12_ENST00000462811.1_3'UTR|TNFSF12_ENST00000293825.6_Missense_Mutation_p.E152K	NM_172089.3	NP_742086.1	Q8IZK7	Q8IZK7_HUMAN	TNFSF12-TNFSF13 readthrough	152					immune response	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|large_intestine(2)	3		Prostate(122;0.157)				CCAGATCGGGGAGTTTATAGT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	48	50			NA	NA	17		NA											NA				7460175		2203	4300	6503	SO:0001583	missense			AY081051	CCDS11108.1	17p13.1	2011-05-31			ENSG00000248871	ENSG00000248871	407977	407977			33537	other	readthrough					NA	12411489	Standard		NM_172089	NA	Approved	TWE-PRIL	uc002ghi.1		OTTHUMG00000161573	ENST00000293826.4:c.454G>A	17.37:g.7460175G>A	ENSP00000293826:p.Glu152Lys	NA		37	CCDS11108.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.136305	0.77662	.	.	ENSG00000239697;ENSG00000239697;ENSG00000248871	ENST00000293825;ENST00000557233;ENST00000293826	D;D;D	0.94687	-3.49;-3.49;-3.49	4.71	2.69	0.31865	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.688639	0.12808	N	0.437389	D	0.88089	0.6343	N	0.20685	0.6	0.28031	N	0.934134	B;B	0.21071	0.001;0.051	B;B	0.19946	0.003;0.027	T	0.79916	-0.1601	10	0.46703	T	0.11	-0.4336	7.5403	0.27733	0.0933:0.1773:0.7294:0.0	.	152;152	Q8IZK7;O43508	.;TNF12_HUMAN	K	152	ENSP00000293825:E152K;ENSP00000451451:E152K;ENSP00000293826:E152K	ENSP00000293825:E152K	E	+	1	0	TNFSF12-TNFSF13;TNFSF12	7400899	0.997000	0.39634	0.944000	0.38274	0.676000	0.39594	1.110000	0.31147	0.529000	0.28599	0.561000	0.74099	GAG	TNFSF12-TNFSF13-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365376.1		+	ENST00000293826.4	Missense_Mutation	SNP	17 : 7460175 - 7460175 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	164	23
LRFN5	145581	broad.mit.edu	37	14	42360546	42360546	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:42360546C>T	ENST00000298119.4	+	4	2668	c.1479C>T	c.(1477-1479)ggC>ggT	p.G493G	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	493	Fibronectin type-III.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		ATGATGATGGCATCACTTCCC	0.458		NA								HNSCC(30;0.082)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													210	176	187			NA	NA	14		NA											NA				42360546		2203	4300	6503	SO:0001819	synonymous_variant			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379	145581	145581		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	20360	protein-coding gene	gene with protein product	fibronectin type III, immunoglobulin and leucine rich repeat domains 8	612811	chromosome 14 open reading frame 146	C14orf146	NA	16828986	Standard	NM_152447	NM_152447	NA	Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1479C>T	14.37:g.42360546C>T		NA	B3KU78|Q86XL2	37	CCDS9678.1																																																																																			LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276786.1		+	ENST00000298119.4	Silent	SNP	14 : 42360546 - 42360546 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	991	190
APOA1BP	128240	broad.mit.edu	37	1	156563698	156563698	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156563698C>T	ENST00000368235.3	+	6	732	c.689C>T	c.(688-690)gCt>gTt	p.A230V	APOA1BP_ENST00000368234.3_Silent_p.C211C	NM_144772.2	NP_658985.2	Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein	230	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAGGGAAATGCTGGAGGGATC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	120	120			NA	NA	1		NA											NA				156563698		2203	4300	6503	SO:0001583	missense			AJ315849	CCDS1145.1	1q21	2008-08-14			ENSG00000163382	ENSG00000163382	128240	128240			18453	protein-coding gene	gene with protein product	apoA-I binding protein	608862			NA	11991719, 17533573	Standard	NM_144772	NM_144772	NA	Approved	AIBP, MGC119143, MGC119144, MGC119145, YJEFN1	uc001fph.3	Q8NCW5	OTTHUMG00000033206	ENST00000368235.3:c.689C>T	1.37:g.156563698C>T	ENSP00000357218:p.Ala230Val	NA	B4DGY3|Q496C6|Q5T3I2	37	CCDS1145.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711231	0.48517	.	.	ENSG00000163382	ENST00000446584;ENST00000368235	T	0.37411	1.2	4.86	4.86	0.63082	YjeF-related protein, N-terminal (5);	0.473392	0.23176	N	0.051061	T	0.12135	0.0295	N	0.12663	0.25	0.80722	D	1	B	0.11235	0.004	B	0.23018	0.043	T	0.06881	-1.0802	10	0.23302	T	0.38	.	16.5957	0.84795	0.0:1.0:0.0:0.0	.	230	Q8NCW5	AIBP_HUMAN	V	248;230	ENSP00000357218:A230V	ENSP00000357218:A230V	A	+	2	0	APOA1BP	154830322	0.432000	0.25554	0.553000	0.28255	0.656000	0.38851	4.888000	0.63164	2.223000	0.72356	0.563000	0.77884	GCT	APOA1BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000081044.1		+	ENST00000368235.3	Missense_Mutation	SNP	1 : 156563698 - 156563698 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1001	217
TBX19	9095	broad.mit.edu	37	1	168260462	168260462	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:168260462C>T	ENST00000367821.3	+	2	319	c.268C>T	c.(268-270)Ctg>Ttg	p.L90L		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	90					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					GTACTCCCTCCTGCTGGACTT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	120	125			NA	NA	1		NA											NA				168260462		2203	4300	6503	SO:0001819	synonymous_variant			AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178	9095	9095		T-boxes	11596	protein-coding gene	gene with protein product	TBS 19	604614			NA	9888994	Standard	NM_005149	NM_005149	NA	Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.268C>T	1.37:g.168260462C>T		NA	Q52M53	37	CCDS1272.1	.	.	.	.	.	.	.	.	.	.	C	9.205	1.029415	0.19512	.	.	ENSG00000143178	ENST00000431969	.	.	.	4.99	4.08	0.47627	.	.	.	.	.	T	0.50360	0.1611	.	.	.	0.30974	N	0.7227589999999999	.	.	.	.	.	.	T	0.53041	-0.8494	3	.	.	.	.	13.3921	0.60830	0.0:0.9236:0.0:0.0764	.	.	.	.	L	22	.	.	P	+	2	0	TBX19	166527086	0.989000	0.36119	0.991000	0.47740	0.999000	0.98932	1.767000	0.38501	1.341000	0.45600	0.655000	0.94253	CCT	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083825.1		+	ENST00000367821.3	Silent	SNP	1 : 168260462 - 168260462 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1026	256
CAPRIN2	65981	broad.mit.edu	37	12	30906676	30906676	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:30906676C>T	ENST00000395805.2	-	1	569	c.22G>A	c.(22-24)Gca>Aca	p.A8T	CAPRIN2_ENST00000251071.5_Missense_Mutation_p.A8T|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.A8T|CAPRIN2_ENST00000308433.5_5'UTR|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.A8T	NM_001206856.1	NP_001193785.1	Q6IMN6	CAPR2_HUMAN	caprin family member 2	8					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CCCAATGATGCTTGAGATACT	0.433		NA									OREG0021723	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	96	95			NA	NA	12		NA											NA				30906676		2201	4293	6494	SO:0001583	missense			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888	65981	65981			21259	protein-coding gene	gene with protein product		610375	C1q domain containing 1	C1QDC1	NA	11347906, 14764709	Standard	NM_023925	NM_001002259	NA	Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.22G>A	12.37:g.30906676C>T	ENSP00000379150:p.Ala8Thr	820	Q149P7|Q6IMN5|Q7Z371|Q8TE70|Q8TE71|Q96RN6|Q9H667|Q9HAL4	37	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682559	0.47991	.	.	ENSG00000110888	ENST00000298892;ENST00000395805;ENST00000251071;ENST00000417045	T;T;T;T	0.73152	-0.72;2.76;-0.67;2.76	3.57	-0.709	0.11237	.	.	.	.	.	T	0.41673	0.1169	N	0.08118	0	0.09310	N	0.999993	B;B;B;B	0.06786	0.001;0.001;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.001	T	0.17228	-1.0376	8	.	.	.	4.8522	2.7491	0.05275	0.3397:0.342:0.0:0.3183	.	8;8;8;8	Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2	.;.;CAPR2_HUMAN;.	T	8	ENSP00000298892:A8T;ENSP00000379150:A8T;ENSP00000251071:A8T;ENSP00000391479:A8T	.	A	-	1	0	CAPRIN2	30797943	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.003000	0.12901	-0.274000	0.09232	0.655000	0.94253	GCA	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403322.2		-	ENST00000395805.2	Missense_Mutation	SNP	12 : 30906676 - 30906676 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	897	100
DUT	1854	broad.mit.edu	37	15	48628255	48628255	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48628255G>A	ENST00000331200.3	+	4	617	c.524G>A	c.(523-525)gGc>gAc	p.G175D	DUT_ENST00000559540.1_Missense_Mutation_p.G87D|DUT_ENST00000559935.1_Missense_Mutation_p.G90D|DUT_ENST00000559416.1_Missense_Mutation_p.G90D|DUT_ENST00000455976.2_Missense_Mutation_p.G87D|DUT_ENST00000561350.1_3'UTR|DUT_ENST00000558813.1_Missense_Mutation_p.G64D	NM_001025248.1|NM_001025249.1	NP_001020419.1|NP_001020420.1	P33316	DUT_HUMAN	deoxyuridine triphosphatase	175	Substrate binding.			G -> S (in Ref. 6; BAF84204).	DNA replication|dUTP metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process	mitochondrion|nucleoplasm	dUTP diphosphatase activity|protein binding			kidney(2)	2		all_lung(180;0.00265)		all cancers(107;2.66e-09)|GBM - Glioblastoma multiforme(94;6.76e-07)		CCACGGTCAGGCTTGGCTGCA	0.328		NA						Modulation of nucleotide pools						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ASP/GLY,ASP/GLY,ASP/GLY	0,4396		0,0,2198	173	163	166		524,191,260	5.3	1	15		166	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense,missense	DUT	NM_001025248.1,NM_001025249.1,NM_001948.3	94,94,94	0,1,6494	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	175/253,64/142,87/165	48628255	1,12989	2198	4297	6495	SO:0001583	missense			M89913	CCDS32231.1, CCDS45255.1, CCDS45256.1	15q21.1	2010-06-24	2007-12-17		ENSG00000128951	ENSG00000128951	1854	1854	3.6.1.23		3078	protein-coding gene	gene with protein product		601266	dUTP pyrophosphatase		NA	1325640, 9070952	Standard		XM_005254211	NA	Approved	dUTPase	uc001zws.3	P33316		ENST00000331200.3:c.524G>A	15.37:g.48628255G>A	ENSP00000370376:p.Gly175Asp	NA	A8K650|B4DPR5|O14785|Q16708|Q16860|Q6FHN1|Q6NSA3|Q96Q81	37	CCDS32231.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357620	0.82243	0.0	1.16E-4	ENSG00000128951	ENST00000331200;ENST00000450740;ENST00000249783;ENST00000455976	T;T	0.61274	0.12;0.35	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.85927	0.5811	H	0.98612	4.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91393	0.5137	10	0.87932	D	0	.	17.9865	0.89157	0.0:0.0:1.0:0.0	.	87;175	P33316-2;P33316	.;DUT_HUMAN	D	175;64;173;87	ENSP00000370376:G175D;ENSP00000405160:G87D	ENSP00000249783:G173D	G	+	2	0	DUT	46415547	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.631000	0.83237	2.607000	0.88179	0.655000	0.94253	GGC	DUT-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417142.2		+	ENST00000331200.3	Missense_Mutation	SNP	15 : 48628255 - 48628255 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	338	57
LURAP1L	286343	broad.mit.edu	37	9	12821638	12821638	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:12821638A>G	ENST00000319264.3	+	2	1261	c.566A>G	c.(565-567)gAt>gGt	p.D189G		NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN	leucine rich adaptor protein 1-like	192											NA						TTGGCGGATGATGTCCCAGGC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													190	163	172			NA	NA	9		NA											NA				12821638		2203	4300	6503	SO:0001583	missense			AK095824	CCDS6473.1	9p22.3	2012-02-01	2012-02-01	2012-02-01	ENSG00000153714	ENSG00000153714	286343	286343			31452	protein-coding gene	gene with protein product	similar to DNA segment, Chr 4, Brigham & Womens Genetics 0951 expressed		chromosome 9 open reading frame 150	C9orf150	NA	12766061	Standard	NM_203403	NM_203403	NA	Approved	MGC46502, FLJ38505, bA3L8.2	uc003zkw.3	Q8IV03	OTTHUMG00000019557	ENST00000319264.3:c.566A>G	9.37:g.12821638A>G	ENSP00000321026:p.Asp189Gly	NA	Q5VZX7|Q8N923|Q8NCG2	37	CCDS6473.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.955867	0.73902	.	.	ENSG00000153714	ENST00000319264	T	0.52057	0.68	5.49	5.49	0.81192	.	0.529823	0.19248	N	0.119013	T	0.58581	0.2132	L	0.42245	1.32	0.45621	D	0.998556	D	0.89917	1.0	D	0.71870	0.975	T	0.59380	-0.7465	10	0.59425	D	0.04	.	10.7702	0.46319	0.8584:0.0:0.0:0.1416	.	192	Q8IV03	CI150_HUMAN	G	189	ENSP00000321026:D189G	ENSP00000321026:D189G	D	+	2	0	C9orf150	12811638	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	6.982000	0.76173	2.084000	0.62774	0.460000	0.39030	GAT	LURAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051730.1		+	ENST00000319264.3	Missense_Mutation	SNP	9 : 12821638 - 12821638 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	792	164
TKT	7086	broad.mit.edu	37	3	53265548	53265548	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53265548G>T	ENST00000462138.1	-	7	855	c.767C>A	c.(766-768)tCt>tAt	p.S256Y	TKT_ENST00000296289.6_Missense_Mutation_p.S209Y|TKT_ENST00000423525.2_Missense_Mutation_p.S256Y|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Missense_Mutation_p.S264Y			P29401	TKT_HUMAN	transketolase	256					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	CCCATGCCAAGACTCCTTATC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(133;1506 2347 35238 42177)							NA				0													94	83	87			NA	NA	3		NA											NA				53265548		2203	4300	6503	SO:0001583	missense				CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	7086	7086	2.2.1.1		11834	protein-coding gene	gene with protein product	Wernicke-Korsakoff syndrome	606781			NA	1567394	Standard		NM_001064	NA	Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.767C>A	3.37:g.53265548G>T	ENSP00000417773:p.Ser256Tyr	NA	A8K089|Q8TBA3|Q96HH3	37	CCDS2871.1	.	.	.	.	.	.	.	.	.	.	G	4.436	0.080646	0.08533	.	.	ENSG00000163931	ENST00000462138;ENST00000423525;ENST00000423516;ENST00000296289;ENST00000414014	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.69	2.94	0.34122	Transketolase, N-terminal (1);	1.130530	0.06411	N	0.720678	T	0.39911	0.1096	M	0.70842	2.15	0.09310	N	1	P;B;B	0.36354	0.549;0.014;0.014	B;B;B	0.43478	0.421;0.043;0.027	T	0.37572	-0.9700	10	0.72032	D	0.01	-11.315	4.1666	0.10310	0.0692:0.2428:0.3554:0.3326	.	264;173;256	E7EPA7;B3KSI4;P29401	.;.;TKT_HUMAN	Y	256;256;264;209;90	ENSP00000417773:S256Y;ENSP00000405455:S256Y;ENSP00000391481:S264Y;ENSP00000296289:S209Y	ENSP00000296289:S209Y	S	-	2	0	TKT	53240588	0.959000	0.32827	0.268000	0.24571	0.036000	0.12997	1.633000	0.37113	0.346000	0.23899	-0.122000	0.15005	TCT	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350356.1		-	ENST00000462138.1	Missense_Mutation	SNP	3 : 53265548 - 53265548 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	267	45
CRB1	23418	broad.mit.edu	37	1	197316584	197316584	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197316584C>T	ENST00000367399.2	+	3	652				CRB1_ENST00000367400.3_Silent_p.D321D|CRB1_ENST00000543483.1_Silent_p.D20D|CRB1_ENST00000538660.1_Silent_p.D321D|CRB1_ENST00000535699.1_Silent_p.D252D	NM_001193640.1	NP_001180569.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	NA					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACAGTGTTGACAATTACACTT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	124	135			NA	NA	1		NA											NA				197316584		2203	4300	6503	SO:0001627	intron_variant				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376	23418	23418			2343	protein-coding gene	gene with protein product		604210	crumbs (Drosophila) homolog 1, crumbs homolog 1 (Drosophila)	RP12	NA	10373321, 10508521	Standard	NM_201253	NM_201253	NA	Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367399.2:c.653-9377C>T	1.37:g.197316584C>T		NA	A2A308|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0	37	CCDS53454.1																																																																																			CRB1-005	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280653.1		+	ENST00000367399.2	Intron	SNP	1 : 197316584 - 197316584 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	367	64
DGKQ	1609	broad.mit.edu	37	4	956377	956377	+	Missense_Mutation	SNP	C	C	T	rs140567391		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:956377C>T	ENST00000273814.3	-	18	2133	c.2060G>A	c.(2059-2061)cGc>cAc	p.R687H		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	687	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGCCCCCCAGCGGAGGACTCG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(17;537 645 4447 26373)							NA				0								C	HIS/ARG	1,4397	2.1+/-5.4	0,1,2198	41	40	40		2060	4.9	1	4	dbSNP_134	40	0,8598		0,0,4299	no	missense	DGKQ	NM_001347.2	29	0,1,6497	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging	687/943	956377	1,12995	2199	4299	6498	SO:0001583	missense			L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214	1609	1609			2856	protein-coding gene	gene with protein product		601207	diacylglycerol kinase, theta (110kD)	DAGK4	NA	8617502, 9099683	Standard		NM_001347	NA	Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.2060G>A	4.37:g.956377C>T	ENSP00000273814:p.Arg687His	NA	Q6P3W4	37	CCDS3342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.519485|5.519485	0.96416|0.96416	2.27E-4|2.27E-4	0.0|0.0	ENSG00000145214|ENSG00000145214	ENST00000509465|ENST00000273814	.|T	.|0.42131	.|0.98	4.9|4.9	4.9|4.9	0.64082|0.64082	.|Diacylglycerol kinase, catalytic domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62183|0.62183	0.2407|0.2407	M|M	0.62209|0.62209	1.925|1.925	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.997;0.998	T|T	0.65105|0.65105	-0.6249|-0.6249	5|10	.|0.66056	.|D	.|0.02	.|.	15.9132|15.9132	0.79488|0.79488	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|687;687	.|E9KL49;P52824	.|.;DGKQ_HUMAN	T|H	621|687	.|ENSP00000273814:R687H	.|ENSP00000273814:R687H	A|R	-|-	1|2	0|0	DGKQ|DGKQ	946377|946377	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	7.367000|7.367000	0.79558|0.79558	2.395000|2.395000	0.81488|0.81488	0.655000|0.655000	0.94253|0.94253	GCT|CGC	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000200888.1		-	ENST00000273814.3	Missense_Mutation	SNP	4 : 956377 - 956377 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	306	52
RNH1	6050	broad.mit.edu	37	11	494985	494985	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:494985C>A	ENST00000534797.1	-	8	2603	c.1196G>T	c.(1195-1197)aGc>aTc	p.S399I	RNH1_ENST00000397615.2_Missense_Mutation_p.S399I|RNH1_ENST00000354420.2_Missense_Mutation_p.S399I|RNH1_ENST00000438658.2_Missense_Mutation_p.S399I|RNH1_ENST00000397604.3_Missense_Mutation_p.S399I|RNH1_ENST00000356187.5_Missense_Mutation_p.S399I|RNH1_ENST00000533410.1_Missense_Mutation_p.S399I|RNH1_ENST00000397614.1_Missense_Mutation_p.S399I			P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor 1	399					mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTCACGCAGGCTGTGGTTGGC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	25	25			NA	NA	11		NA											NA				494985		2200	4298	6498	SO:0001583	missense				CCDS7697.1	11p15.5	2008-02-05	2005-06-01	2005-06-01	ENSG00000023191	ENSG00000023191	6050	6050			10074	protein-coding gene	gene with protein product		173320	ribonuclease/angiogenin inhibitor	RNH	NA		Standard	NM_203389	NM_203386	NA	Approved	RAI	uc001lpo.1	P13489	OTTHUMG00000119086	ENST00000534797.1:c.1196G>T	11.37:g.494985C>A	ENSP00000433999:p.Ser399Ile	NA	Q8IZK8|Q96FD7|Q9BQ80|Q9UDK6	37	CCDS7697.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058631	0.55325	.	.	ENSG00000023191	ENST00000534797;ENST00000397614;ENST00000397615;ENST00000397604;ENST00000529768;ENST00000533410;ENST00000438658;ENST00000354420;ENST00000356187	T;T;T;T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	3.87	3.87	0.44632	.	0.317042	0.26539	N	0.023807	D	0.82838	0.5124	M	0.92367	3.3	0.37013	D	0.895833	D	0.89917	1.0	D	0.97110	1.0	D	0.86268	0.1659	10	0.72032	D	0.01	.	7.5396	0.27731	0.0:0.8859:0.0:0.1141	.	399	P13489	RINI_HUMAN	I	399;399;399;399;193;399;399;399;399	ENSP00000433999:S399I;ENSP00000380738:S399I;ENSP00000380739:S399I;ENSP00000380729:S399I;ENSP00000432170:S193I;ENSP00000435594:S399I;ENSP00000416589:S399I;ENSP00000346402:S399I;ENSP00000348515:S399I	ENSP00000346402:S399I	S	-	2	0	RNH1	484985	0.024000	0.19004	0.943000	0.38184	0.432000	0.31715	0.415000	0.21181	2.465000	0.83290	0.655000	0.94253	AGC	RNH1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384301.1		-	ENST00000534797.1	Missense_Mutation	SNP	11 : 494985 - 494985 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	94	8
ISM2	145501	broad.mit.edu	37	14	77942335	77942335	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77942335C>T	ENST00000342219.4	-	7	1375	c.1319G>A	c.(1318-1320)aGc>aAc	p.S440N	ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000429906.1_Missense_Mutation_p.S359N|ISM2_ENST00000393684.3_Missense_Mutation_p.S352N|ISM2_ENST00000412904.1_Missense_Mutation_p.S359N	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	440	AMOP.					extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GCTCACAGGGCTGTCCATGGC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	40	40			NA	NA	14		NA											NA				77942335		2203	4300	6503	SO:0001583	missense			AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593	145501	145501			23176	protein-coding gene	gene with protein product	thrombospondin and AMOP containing isthmin-like 1	612684	thrombospondin, type I domain-containing 3, thrombospondin, type I, domain containing 3, isthmin 2 homolog (zebrafish)	THSD3	NA	15194193	Standard	NM_182509	NM_199296	NA	Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.1319G>A	14.37:g.77942335C>T	ENSP00000341490:p.Ser440Asn	NA	A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	37	CCDS9864.1	.	.	.	.	.	.	.	.	.	.	C	6.142	0.394399	0.11638	.	.	ENSG00000100593	ENST00000342219;ENST00000412904;ENST00000429906;ENST00000393684	T;T;T;T	0.24538	1.85;1.87;1.86;2.18	4.98	4.09	0.47781	AMOP (3);	0.250260	0.44097	D	0.000485	T	0.18800	0.0451	L	0.28115	0.83	0.18873	N	0.999986	B;B	0.30068	0.225;0.267	B;B	0.28385	0.032;0.089	T	0.12293	-1.0553	10	0.41790	T	0.15	-4.4567	13.3096	0.60371	0.0:0.9229:0.0:0.0771	.	359;440	Q6H9L7-5;Q6H9L7	.;ISM2_HUMAN	N	440;359;359;352	ENSP00000341490:S440N;ENSP00000416773:S359N;ENSP00000395387:S359N;ENSP00000377289:S352N	ENSP00000341490:S440N	S	-	2	0	ISM2	77012088	0.996000	0.38824	0.001000	0.08648	0.001000	0.01503	3.227000	0.51262	1.098000	0.41479	0.561000	0.74099	AGC	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351309.1		-	ENST00000342219.4	Missense_Mutation	SNP	14 : 77942335 - 77942335 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	345	73
FAM195A	84331	broad.mit.edu	37	16	697444	697444	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:697444T>G	ENST00000307650.4	+	3	389	c.210T>G	c.(208-210)cgT>cgG	p.R70R		NM_138418.2	NP_612427.2	Q9BUT9	F195A_HUMAN	family with sequence similarity 195, member A	70										haematopoietic_and_lymphoid_tissue(1)|kidney(1)	2						TGTTCAATCGTGTGAATGGCC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	75	78			NA	NA	16		NA											NA				697444		2200	4300	6500	SO:0001819	synonymous_variant			BC001912	CCDS10415.1	16p13.3	2009-09-10	2009-09-10	2009-09-10	ENSG00000172366	ENSG00000172366	84331	84331			14142	protein-coding gene	gene with protein product			chromosome 16 open reading frame 14	C16orf14	NA	12477932	Standard	NM_138418	NM_138418	NA	Approved	MGC15416	uc002cic.1	Q9BUT9	OTTHUMG00000048042	ENST00000307650.4:c.210T>G	16.37:g.697444T>G		NA	Q969E9|Q96KV8	37	CCDS10415.1																																																																																			FAM195A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109347.2		+	ENST00000307650.4	Silent	SNP	16 : 697444 - 697444 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	61
SLC12A7	10723	broad.mit.edu	37	5	1084037	1084037	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1084037G>A	ENST00000264930.5	-	8	995	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	318					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCGAAGCTGCGCCGTGACAGC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/ARG	1,4399	2.1+/-5.4	0,1,2199	67	62	64		952	3.7	0	5		64	0,8600		0,0,4300	no	missense	SLC12A7	NM_006598.2	180	0,1,6499	AA,AG,GG	NA	0.0,0.0227,0.0077	possibly-damaging	318/1084	1084037	1,12999	2200	4300	6500	SO:0001583	missense			AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504	10723	10723		Solute carriers	10915	protein-coding gene	gene with protein product		604879			NA	10347194	Standard	NM_006598	NM_006598	NA	Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.952C>T	5.37:g.1084037G>A	ENSP00000264930:p.Arg318Cys	NA	A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	37	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.412562	0.42817	2.27E-4	0.0	ENSG00000113504	ENST00000264930	T	0.62941	-0.01	3.68	3.68	0.42216	.	0.203944	0.45361	D	0.000371	T	0.59756	0.2217	M	0.67953	2.075	0.09310	N	0.999996	P	0.44521	0.837	B	0.42522	0.39	T	0.58440	-0.7636	10	0.56958	D	0.05	.	9.8471	0.41034	0.0:0.0:0.7946:0.2054	.	318	Q9Y666	S12A7_HUMAN	C	318	ENSP00000264930:R318C	ENSP00000264930:R318C	R	-	1	0	SLC12A7	1137037	0.002000	0.14202	0.011000	0.14972	0.065000	0.16274	1.214000	0.32419	1.768000	0.52137	0.478000	0.44815	CGC	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366446.2		-	ENST00000264930.5	Missense_Mutation	SNP	5 : 1084037 - 1084037 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	305	56
NCAPH2	29781	broad.mit.edu	37	22	50956564	50956564	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50956564G>A	ENST00000395701.3	+	7	597	c.503G>A	c.(502-504)cGt>cAt	p.R168H	NCAPH2_ENST00000299821.11_Missense_Mutation_p.R168H|NCAPH2_ENST00000420993.2_Missense_Mutation_p.R168H|NCAPH2_ENST00000395698.3_Missense_Mutation_p.R168H			Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	168					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		CAGCACAGCCGTCAGGGTGAG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	52	50			NA	NA	22		NA											NA				50956564		2203	4300	6503	SO:0001583	missense			BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770	29781	29781			25071	protein-coding gene	gene with protein product	kleisin beta, CAP-H2 subunit of the condensin II complex	611230			NA	10493829	Standard	NM_152299	NM_014551	NA	Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000395701.3:c.503G>A	22.37:g.50956564G>A	ENSP00000379053:p.Arg168His	NA	B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	37		.	.	.	.	.	.	.	.	.	.	G	16.36	3.102033	0.56183	.	.	ENSG00000025770	ENST00000420993;ENST00000395698;ENST00000395701;ENST00000523045;ENST00000299821	.	.	.	5.23	4.22	0.49857	.	0.334684	0.31747	N	0.007121	T	0.48572	0.1507	L	0.43152	1.355	0.27283	N	0.958041	D;D;D;D	0.89917	1.0;0.992;0.993;0.997	P;P;P;P	0.61592	0.891;0.809;0.88;0.754	T	0.39057	-0.9632	9	0.15066	T	0.55	-4.0E-4	12.5423	0.56179	0.0813:0.0:0.9187:0.0	.	168;168;168;168	G3XAG4;Q6IBW4-4;Q6IBW4;Q6IBW4-5	.;.;CNDH2_HUMAN;.	H	168;168;168;134;168	.	ENSP00000299821:R168H	R	+	2	0	NCAPH2	49303430	1.000000	0.71417	1.000000	0.80357	0.557000	0.35523	2.777000	0.47717	1.217000	0.43442	-0.379000	0.06801	CGT	NCAPH2-006	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000317014.1		+	ENST00000395701.3	Missense_Mutation	SNP	22 : 50956564 - 50956564 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	271	12
MELK	9833	broad.mit.edu	37	9	36677318	36677318	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36677318C>A	ENST00000298048.2	+	18	2124	c.1940C>A	c.(1939-1941)tCt>tAt	p.S647Y	MELK_ENST00000538311.1_Missense_Mutation_p.S453Y|MELK_ENST00000536329.1_Missense_Mutation_p.S576Y|MELK_ENST00000536860.1_Missense_Mutation_p.S599Y|MELK_ENST00000543751.1_Missense_Mutation_p.S615Y|MELK_ENST00000545008.1_Missense_Mutation_p.S576Y|MELK_ENST00000541717.1_Missense_Mutation_p.S606Y|MELK_ENST00000536987.1_Missense_Mutation_p.S516Y	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	647	KA1.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			GACATCCTATCTAGCTGCAAG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(82;980 1317 7225 14391 18624)							NA				0													75	72	73			NA	NA	9		NA											NA				36677318		2203	4300	6503	SO:0001583	missense			D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304	9833	9833			16870	protein-coding gene	gene with protein product		607025			NA	8724849, 9136115	Standard	NM_014791	NM_001256689	NA	Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.1940C>A	9.37:g.36677318C>A	ENSP00000298048:p.Ser647Tyr	NA	B1AMQ6|D3DRP8|Q7L3C3	37	CCDS6606.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185524	0.78677	.	.	ENSG00000165304	ENST00000298048;ENST00000538311;ENST00000536987;ENST00000545008;ENST00000536860;ENST00000536329;ENST00000541717;ENST00000543751	T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.79	5.79	0.91817	Kinase-associated KA1 (4);	0.144593	0.64402	D	0.000004	T	0.67268	0.2875	L	0.55481	1.735	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;1.0;0.999	D;D;D;D;D;D;D	0.97110	1.0;0.996;0.99;0.987;1.0;0.996;0.992	T	0.67688	-0.5606	10	0.87932	D	0	-9.3178	20.0371	0.97565	0.0:1.0:0.0:0.0	.	567;576;599;606;576;615;647	B7Z1G6;F5H2R4;F5H0Y0;F5H689;A6P3A8;A6P3A7;Q14680	.;.;.;.;.;.;MELK_HUMAN	Y	647;453;516;576;599;576;606;615	ENSP00000298048:S647Y;ENSP00000438226:S453Y;ENSP00000439184:S516Y;ENSP00000445452:S576Y;ENSP00000439792:S599Y;ENSP00000443550:S576Y;ENSP00000437804:S606Y;ENSP00000441596:S615Y	ENSP00000298048:S647Y	S	+	2	0	MELK	36667318	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	7.259000	0.78381	2.734000	0.93682	0.655000	0.94253	TCT	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052428.3		+	ENST00000298048.2	Missense_Mutation	SNP	9 : 36677318 - 36677318 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	189	39
LRIG1	26018	broad.mit.edu	37	3	66431186	66431186	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:66431186G>A	ENST00000383703.3	-	19	3404	c.2801C>T	c.(2800-2802)gCa>gTa	p.A934V	SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000273261.3_Missense_Mutation_p.A957V|LRIG1_ENST00000496559.2_5'UTR			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	957						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		ACTTGGCTGTGCGCTGTCTCT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	63	62			NA	NA	3		NA											NA				66431186		2203	4300	6503	SO:0001583	missense			AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749	26018	26018		Immunoglobulin superfamily / I-set domain containing	17360	protein-coding gene	gene with protein product	ortholog of mouse integral membrane glycoprotein LIG-1, leucine-rich repeat protein LRIG1	608868			NA	11414704, 12234026	Standard	NM_015541	NM_015541	NA	Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000383703.3:c.2801C>T	3.37:g.66431186G>A	ENSP00000373208:p.Ala934Val	NA	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	37		.	.	.	.	.	.	.	.	.	.	G	5.211	0.224411	0.09863	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.63744	-0.06;-0.03	5.55	-0.703	0.11261	.	1.630420	0.03007	N	0.148949	T	0.50565	0.1623	L	0.34521	1.04	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.22626	-1.0211	10	0.29301	T	0.29	.	7.8908	0.29677	0.2123:0.3433:0.4444:0.0	.	934;957;957	Q96JA1-2;Q5XWD3;Q96JA1	.;.;LRIG1_HUMAN	V	957;934;860	ENSP00000273261:A957V;ENSP00000373208:A934V	ENSP00000273261:A957V	A	-	2	0	LRIG1	66513876	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.156000	0.16382	-0.478000	0.06823	-1.316000	0.01300	GCA	LRIG1-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000351931.1		-	ENST00000383703.3	Missense_Mutation	SNP	3 : 66431186 - 66431186 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	501	21
LY6H	4062	broad.mit.edu	37	8	144240263	144240263	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144240263G>A	ENST00000414417.2	-	4	440	c.207C>T	c.(205-207)tcC>tcT	p.S69S	LY6H_ENST00000430474.2_Silent_p.S48S|LY6H_ENST00000342752.4_Silent_p.S69S	NM_001130478.1	NP_001123950.1	O94772	LY6H_HUMAN	lymphocyte antigen 6 complex, locus H	48	UPAR/Ly6.				nervous system development|organ morphogenesis	anchored to membrane|plasma membrane				endometrium(1)|lung(1)|stomach(2)	4	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ACACCGTGTCGGACGGCTGGC	0.612		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	151	118	129		207,207,144	-7.1	0	8		129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	LY6H	NM_001130478.1,NM_001135655.1,NM_002347.4	,,	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	,,	69/162,69/162,48/141	144240263	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AB012293	CCDS6396.1, CCDS47926.1	8q24.3	2008-08-01			ENSG00000176956	ENSG00000176956	4062	4062			6728	protein-coding gene	gene with protein product		603625			NA	9799603	Standard		NM_001130478	NA	Approved	NMLY6	uc011lkb.2	O94772	OTTHUMG00000154890	ENST00000414417.2:c.207C>T	8.37:g.144240263G>A		NA	B2RAD2|Q6IAX0	37	CCDS47926.1																																																																																			LY6H-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337534.2		-	ENST00000414417.2	Silent	SNP	8 : 144240263 - 144240263 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	521	77
PGBD4	161779	broad.mit.edu	37	15	34394945	34394945	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34394945C>A	ENST00000397766.2	+	1	672	c.213C>A	c.(211-213)cgC>cgA	p.R71R		NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	71										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		ACTCAGGGCGCTCCATGAAAT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	70	72			NA	NA	15		NA											NA				34394945		2201	4298	6499	SO:0001819	synonymous_variant			AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405	161779	161779			19401	protein-coding gene	gene with protein product					NA		Standard		NM_152595	NA	Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.213C>A	15.37:g.34394945C>A		NA	A1L487|A8K0C6|Q8N9E8	37	CCDS10033.1																																																																																			PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251522.1		+	ENST00000397766.2	Silent	SNP	15 : 34394945 - 34394945 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	21
CHD9	80205	broad.mit.edu	37	16	53338106	53338106	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53338106C>A	ENST00000566029.1	+	31	6397	c.6188C>A	c.(6187-6189)tCt>tAt	p.S2063Y	CHD9_ENST00000447540.1_Missense_Mutation_p.S2063Y|CHD9_ENST00000564845.1_Missense_Mutation_p.S2063Y|CHD9_ENST00000398510.3_Missense_Mutation_p.S2063Y			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2063					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GAAGAAGAATCTATGTCTTCT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	34	34			NA	NA	16		NA											NA				53338106		1840	4082	5922	SO:0001583	missense			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200	80205	80205			25701	protein-coding gene	gene with protein product					NA	9205841	Standard	NM_025134	XM_005256168	NA	Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000566029.1:c.6188C>A	16.37:g.53338106C>A	ENSP00000457466:p.Ser2063Tyr	NA	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	37	CCDS45485.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843191	0.71488	.	.	ENSG00000177200	ENST00000447540;ENST00000398510	T;T	0.71934	-0.61;-0.61	6.16	6.16	0.99307	.	0.099037	0.45126	D	0.000383	D	0.83308	0.5226	L	0.57536	1.79	0.53005	D	0.999963	D;D;D;D	0.71674	0.995;0.998;0.995;0.997	D;D;D;D	0.80764	0.986;0.935;0.986;0.994	T	0.82645	-0.0355	10	0.72032	D	0.01	-16.9328	20.8598	0.99761	0.0:1.0:0.0:0.0	.	2063;2063;2063;2063	B7ZML1;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	Y	2063	ENSP00000396345:S2063Y;ENSP00000381522:S2063Y	ENSP00000381522:S2063Y	S	+	2	0	CHD9	51895607	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.256000	0.65468	2.937000	0.99478	0.650000	0.86243	TCT	CHD9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000422338.1		+	ENST00000566029.1	Missense_Mutation	SNP	16 : 53338106 - 53338106 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	79	12
SI	6476	broad.mit.edu	37	3	164748559	164748559	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164748559G>A	ENST00000264382.3	-	25	2895	c.2833C>T	c.(2833-2835)Cca>Tca	p.P945S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	945	Isomaltase.|P-type 2.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCTGCATCTGGATAACAATTA	0.328		NA								HNSCC(35;0.089)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	95	93			NA	NA	3		NA											NA				164748559		2202	4295	6497	SO:0001583	missense			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	6476	6476	3.2.1.10		10856	protein-coding gene	gene with protein product	Oligosaccharide alpha-1,6-glucosidase	609845	sucrase-isomaltase		NA	2962903, 1353958	Standard	NM_001041	NM_001041	NA	Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2833C>T	3.37:g.164748559G>A	ENSP00000264382:p.Pro945Ser	NA	A2RUC3|Q1JQ80|Q1RMC2	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936796	0.52972	.	.	ENSG00000090402	ENST00000264382	T	0.12984	2.63	4.94	4.94	0.65067	P-type trefoil (4);	0.000000	0.85682	D	0.000000	T	0.45155	0.1328	M	0.89785	3.06	0.48901	D	0.999728	D	0.89917	1.0	D	0.97110	1.0	T	0.54316	-0.8312	10	0.87932	D	0	.	15.0109	0.71550	0.0:0.0:1.0:0.0	.	945	P14410	SUIS_HUMAN	S	945	ENSP00000264382:P945S	ENSP00000264382:P945S	P	-	1	0	SI	166231253	1.000000	0.71417	0.997000	0.53966	0.240000	0.25518	5.498000	0.66931	2.563000	0.86464	0.655000	0.94253	CCA	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350116.1		-	ENST00000264382.3	Missense_Mutation	SNP	3 : 164748559 - 164748559 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	474	88
GRIK2	2898	broad.mit.edu	37	6	102376473	102376473	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:102376473C>T	ENST00000369138.1	+	13	2541	c.2051C>T	c.(2050-2052)gCa>gTa	p.A684V	GRIK2_ENST00000369134.4_Missense_Mutation_p.A635V|GRIK2_ENST00000369137.3_Missense_Mutation_p.A608V|GRIK2_ENST00000421544.1_Missense_Mutation_p.A684V|GRIK2_ENST00000318991.6_Missense_Mutation_p.A684V|GRIK2_ENST00000413795.1_Missense_Mutation_p.A684V	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	684					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GAATATGGAGCAGTAGAGGAT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	92	94			NA	NA	6		NA											NA				102376473		2203	4300	6503	SO:0001583	missense				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418	2898	2898		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4580	protein-coding gene	gene with protein product		138244		GLUR6	NA	8034316	Standard		NM_021956	NA	Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000369138.1:c.2051C>T	6.37:g.102376473C>T	ENSP00000358134:p.Ala684Val	NA	A6NMY9|B5MCV0|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	37	CCDS55045.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625228	0.46840	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000369134	T;T;T;T;T;T	0.08370	3.1;3.1;3.1;3.1;3.1;3.1	5.9	5.9	0.94986	Ionotropic glutamate receptor (2);	0.056708	0.64402	D	0.000001	T	0.02455	0.0075	N	0.03881	-0.34	0.45227	D	0.998232	B;B;B	0.14438	0.01;0.005;0.01	B;B;B	0.15052	0.012;0.012;0.007	T	0.51537	-0.8693	10	0.48119	T	0.1	.	20.2821	0.98520	0.0:1.0:0.0:0.0	.	684;684;684	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	V	684;684;684;608;684;635	ENSP00000397026:A684V;ENSP00000405596:A684V;ENSP00000358134:A684V;ENSP00000358133:A608V;ENSP00000313276:A684V;ENSP00000358130:A635V	ENSP00000313276:A684V	A	+	2	0	GRIK2	102483166	1.000000	0.71417	0.953000	0.39169	0.995000	0.86356	5.612000	0.67681	2.786000	0.95864	0.563000	0.77884	GCA	GRIK2-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043720.1		+	ENST00000369138.1	Missense_Mutation	SNP	6 : 102376473 - 102376473 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	290	39
OR2H2	7932	broad.mit.edu	37	6	29556596	29556596	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29556596A>G	ENST00000383640.2	+	1	914	c.875A>G	c.(874-876)aAc>aGc	p.N292S	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	292					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						ACCCTGAGGAACAAGGAGGTA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	51	49			NA	NA	6		NA											NA				29556596		1510	2708	4218	SO:0001583	missense				CCDS34365.1	6p22.2-p21.31	2012-08-09				ENSG00000204657	7932	7932		GPCR / Class A : Olfactory receptors	8253	protein-coding gene	gene with protein product		600578			NA		Standard		XM_005249407	NA	Approved	hs6M1-12	uc003nmr.1	O95918		ENST00000383640.2:c.875A>G	6.37:g.29556596A>G	ENSP00000373136:p.Asn292Ser	NA	Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14	37	CCDS34365.1	.	.	.	.	.	.	.	.	.	.	A	14.92	2.679557	0.47886	.	.	ENSG00000204657	ENST00000383640	T	0.39997	1.05	4.31	3.12	0.35913	.	0.000000	0.45126	D	0.000396	T	0.44850	0.1313	M	0.64997	1.995	0.23831	N	0.996729	D	0.89917	1.0	D	0.83275	0.996	T	0.35919	-0.9769	10	0.87932	D	0	.	10.013	0.41997	0.8293:0.1707:0.0:0.0	.	292	O95918	OR2H2_HUMAN	S	292	ENSP00000373136:N292S	ENSP00000373136:N292S	N	+	2	0	OR2H2	29664575	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	2.753000	0.47524	0.658000	0.30925	0.482000	0.46254	AAC	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076057.2		+	ENST00000383640.2	Missense_Mutation	SNP	6 : 29556596 - 29556596 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	352	59
ELSPBP1	64100	broad.mit.edu	37	19	48523002	48523002	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48523002C>A	ENST00000339841.2	+	5	560	c.382C>A	c.(382-384)Ccc>Acc	p.P128T	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	128	Fibronectin type-II 3.				single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		TCTCAGGAAGCCCTGCATCTT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	83	85			NA	NA	19		NA											NA				48523002		2203	4300	6503	SO:0001583	missense			AJ278478	CCDS12708.1	19q13.33	2009-09-17					64100	64100			14417	protein-coding gene	gene with protein product	epididymal protein 12	607443			NA		Standard		NM_022142	NA	Approved	HE12, E12, EDDM12	uc002pht.3	Q96BH3		ENST00000339841.2:c.382C>A	19.37:g.48523002C>A	ENSP00000340660:p.Pro128Thr	NA	Q96RT0|Q9H4C8	37	CCDS12708.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535607	0.27475	.	.	ENSG00000169393	ENST00000339841	T	0.09911	2.93	3.76	2.71	0.32032	Fibronectin, type II, collagen-binding (3);Kringle-like fold (1);	0.128105	0.35320	N	0.003283	T	0.13756	0.0333	M	0.87758	2.905	0.26877	N	0.967623	P	0.39551	0.678	B	0.30572	0.117	T	0.20140	-1.0284	10	0.62326	D	0.03	.	7.6932	0.28579	0.0:0.8752:0.0:0.1248	.	128	Q96BH3	ESPB1_HUMAN	T	128	ENSP00000340660:P128T	ENSP00000340660:P128T	P	+	1	0	ELSPBP1	53214814	0.996000	0.38824	0.998000	0.56505	0.504000	0.33889	0.777000	0.26718	0.870000	0.35726	0.561000	0.74099	CCC	ELSPBP1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465207.1		+	ENST00000339841.2	Missense_Mutation	SNP	19 : 48523002 - 48523002 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	362	20
DISP1	84976	broad.mit.edu	37	1	223178682	223178682	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223178682C>A	ENST00000284476.6	+	8	4107	c.3943C>A	c.(3943-3945)Ctg>Atg	p.L1315M		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1315					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CGTGGCACCTCTGAAGGCCAC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	75	78			NA	NA	1		NA											NA				223178682		2203	4300	6503	SO:0001583	missense			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309	84976	84976			19711	protein-coding gene	gene with protein product		607502			NA	10619433	Standard	NM_032890	NM_032890	NA	Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.3943C>A	1.37:g.223178682C>A	ENSP00000284476:p.Leu1315Met	NA	Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	37	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	C	8.634	0.894442	0.17613	.	.	ENSG00000154309	ENST00000284476	D	0.94046	-3.34	5.7	4.79	0.61399	.	0.600559	0.16431	N	0.214719	D	0.88224	0.6379	L	0.29908	0.895	0.09310	N	1	B	0.34103	0.437	B	0.35353	0.201	T	0.80578	-0.1320	10	0.42905	T	0.14	-5.5401	9.0276	0.36239	0.155:0.7684:0.0:0.0766	.	1315	Q96F81	DISP1_HUMAN	M	1315	ENSP00000284476:L1315M	ENSP00000284476:L1315M	L	+	1	2	DISP1	221245305	0.074000	0.21230	0.148000	0.22405	0.349000	0.29174	0.348000	0.20031	1.410000	0.46936	-0.140000	0.14226	CTG	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092512.1		+	ENST00000284476.6	Missense_Mutation	SNP	1 : 223178682 - 223178682 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	508	86
DCHS1	8642	broad.mit.edu	37	11	6644403	6644403	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6644403A>G	ENST00000299441.3	-	21	8915	c.8504T>C	c.(8503-8505)gTg>gCg	p.V2835A		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2835	Cadherin 27.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTGGCCTGCACGTGACCCAA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	30	31			NA	NA	11		NA											NA				6644403		2200	4293	6493	SO:0001583	missense			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341	8642	8642		Cadherins / Cadherin-related	13681	protein-coding gene	gene with protein product	cadherin-related family member 6	603057	protocadherin 16, dachsous 1 (Drosophila)	CDH25, PCDH16	NA	9199196	Standard	NM_003737	XM_005253207	NA	Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.8504T>C	11.37:g.6644403A>G	ENSP00000299441:p.Val2835Ala	NA	O15098	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.934826	0.73442	.	.	ENSG00000166341	ENST00000299441	T	0.68624	-0.34	4.97	4.97	0.65823	Cadherin (3);Cadherin-like (1);	0.000000	0.35739	N	0.003019	T	0.81740	0.4886	M	0.89968	3.075	0.58432	D	0.999998	D	0.67145	0.996	P	0.58266	0.836	D	0.85659	0.1287	10	0.62326	D	0.03	.	13.6294	0.62186	1.0:0.0:0.0:0.0	.	2835	Q96JQ0	PCD16_HUMAN	A	2835	ENSP00000299441:V2835A	ENSP00000299441:V2835A	V	-	2	0	DCHS1	6600979	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	9.139000	0.94554	2.092000	0.63282	0.533000	0.62120	GTG	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257258.1		-	ENST00000299441.3	Missense_Mutation	SNP	11 : 6644403 - 6644403 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	69	10
INPP4B	8821	broad.mit.edu	37	4	143003299	143003299	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:143003299T>C	ENST00000513000.1	-	26	2960	c.2527A>G	c.(2527-2529)Aaa>Gaa	p.K843E	INPP4B_ENST00000509777.1_Missense_Mutation_p.K843E|INPP4B_ENST00000308502.4_Missense_Mutation_p.K843E|INPP4B_ENST00000262992.4_Missense_Mutation_p.K843E|INPP4B_ENST00000508116.1_Missense_Mutation_p.K843E	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	843					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TTGGCACTTTTACAACAGGTG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	140	147			NA	NA	4		NA											NA				143003299		2203	4300	6503	SO:0001583	missense			U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452	8821	8821			6075	protein-coding gene	gene with protein product		607494	inositol polyphosphate-4-phosphatase, type II, 105kD		NA	9295334	Standard	NM_003866	NM_003866	NA	Approved		uc003iiw.4	O15327		ENST00000513000.1:c.2527A>G	4.37:g.143003299T>C	ENSP00000425487:p.Lys843Glu	NA	Q2TAI2|Q6IN59|Q6PJB4	37	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	T	30	5.051655	0.93793	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000508116;ENST00000509777;ENST00000511838	T;T;T;T;T;T	0.32023	1.48;1.48;1.48;1.48;1.47;1.51	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.63271	0.2497	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71017	-0.4714	10	0.87932	D	0	.	16.1966	0.82029	0.0:0.0:0.0:1.0	.	843	O15327	INP4B_HUMAN	E	843;843;843;843;843;658	ENSP00000425487:K843E;ENSP00000262992:K843E;ENSP00000308441:K843E;ENSP00000423954:K843E;ENSP00000422793:K843E;ENSP00000426207:K658E	ENSP00000262992:K843E	K	-	1	0	INPP4B	143222749	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.698000	0.84413	2.232000	0.73038	0.528000	0.53228	AAA	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364587.1		-	ENST00000513000.1	Missense_Mutation	SNP	4 : 143003299 - 143003299 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	385	56
SCNN1D	6339	broad.mit.edu	37	1	1226291	1226291	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1226291C>T	ENST00000338555.2	+	13	2586	c.1442C>T	c.(1441-1443)aCg>aTg	p.T481M	SCNN1D_ENST00000379116.5_Missense_Mutation_p.T645M|SCNN1D_ENST00000400928.3_Missense_Mutation_p.T481M|SCNN1D_ENST00000325425.8_Missense_Mutation_p.T547M					sodium channel, non-voltage-gated 1, delta subunit	NA										lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		ACTCTGGCCACGCTAGGTGAA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	27	28			NA	NA	1		NA											NA				1226291		2170	4279	6449	SO:0001583	missense			U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572	6339	6339		Ion channels / Sodium channel, nonvoltage-gated, Sodium channels	10601	protein-coding gene	gene with protein product		601328	sodium channel, nonvoltage-gated 1, delta, sodium channel, non-voltage-gated 1, delta		NA	8661065	Standard	NM_002978	NM_001130413	NA	Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.1442C>T	1.37:g.1226291C>T	ENSP00000339504:p.Thr481Met	NA		37		.	.	.	.	.	.	.	.	.	.	C	0.187	-1.056654	0.01965	.	.	ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928	T;T;T;T	0.69306	-0.39;-0.36;-0.37;-0.36	3.0	-1.54	0.08584	.	6.272650	0.00772	U	0.001219	T	0.32556	0.0833	N	0.01729	-0.75	0.09310	N	1	B;B;B	0.28998	0.093;0.023;0.23	B;B;B	0.23018	0.043;0.031;0.005	T	0.26360	-1.0105	10	0.11182	T	0.66	.	2.3034	0.04168	0.2442:0.366:0.0:0.3898	.	303;481;645	B1AMF2;P51172;A6NNF7	.;SCNND_HUMAN;.	M	512;645;481;547;481	ENSP00000368411:T645M;ENSP00000339504:T481M;ENSP00000321594:T547M;ENSP00000383717:T481M	ENSP00000321594:T547M	T	+	2	0	SCNN1D	1216154	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.041000	0.12084	-0.035000	0.13691	0.306000	0.20318	ACG	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000005802.2		+	ENST00000338555.2	Missense_Mutation	SNP	1 : 1226291 - 1226291 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	86	17
ALDH3A1	218	broad.mit.edu	37	17	19642967	19642967	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19642967C>T	ENST00000457500.2	-	7	1299	c.970G>A	c.(970-972)Gtg>Atg	p.V324M	ALDH3A1_ENST00000225740.6_Missense_Mutation_p.V324M|ALDH3A1_ENST00000395555.3_Intron|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.V324M|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.V251M	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	324					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	TGGGGGTCCACGTCCGTGAGG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	40	41			NA	NA	17		NA											NA				19642967		2203	4300	6503	SO:0001583	missense			M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	218	218	1.2.1.5	Aldehyde dehydrogenases	405	protein-coding gene	gene with protein product	aldehyde dehydrogenase, dimeric NADP-preferring	100660		ALDH3	NA	7774944, 1737758	Standard	NM_000691	NM_000691	NA	Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.970G>A	17.37:g.19642967C>T	ENSP00000411821:p.Val324Met	NA	Q9BT37	37	CCDS11212.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885704	0.91814	.	.	ENSG00000108602	ENST00000225740;ENST00000379258;ENST00000444455;ENST00000457500;ENST00000457844;ENST00000439102	D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52	4.82	4.82	0.62117	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.122950	0.56097	D	0.000037	D	0.92273	0.7549	M	0.93898	3.47	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.993;0.996;0.993	D	0.94413	0.7633	10	0.87932	D	0	-20.6296	16.9051	0.86124	0.0:1.0:0.0:0.0	.	324;441;324	A8K828;Q8N9T9;P30838	.;.;AL3A1_HUMAN	M	324;382;324;324;251;324	ENSP00000225740:V324M;ENSP00000388469:V324M;ENSP00000411821:V324M;ENSP00000389766:V324M	ENSP00000225740:V324M	V	-	1	0	ALDH3A1	19583559	0.997000	0.39634	0.918000	0.36340	0.909000	0.53808	7.420000	0.80191	2.232000	0.73038	0.655000	0.94253	GTG	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132265.4		-	ENST00000457500.2	Missense_Mutation	SNP	17 : 19642967 - 19642967 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	195	32
LAMA4	3910	broad.mit.edu	37	6	112508730	112508730	+	Silent	SNP	G	G	A	rs17073495	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112508730G>A	ENST00000230538.7	-	8	1285	c.888C>T	c.(886-888)tcC>tcT	p.S296S	LAMA4_ENST00000522006.1_Silent_p.S289S|LAMA4_ENST00000424408.2_Silent_p.S289S|LAMA4_ENST00000389463.4_Silent_p.S289S	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	296	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCAGCACCCCGGATTTGCCTT	0.532		NA											G	8	0.0037	0.02	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0037	1	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0								G	,,	50,4356	52.9+/-88.7	0,50,2153	102	84	90		888,867,867	-11	0	6	dbSNP_123	90	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	LAMA4	NM_001105206.1,NM_001105207.1,NM_002290.3	,,	0,50,6453	AA,AG,GG	NA	0.0,1.1348,0.3844	,,	296/1824,289/1817,289/1817	112508730	50,12956	2203	4300	6503	SO:0001819	synonymous_variant				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769	3910	3910		Laminins	6484	protein-coding gene	gene with protein product		600133			NA	7959779	Standard	NM_001105206	NM_001105206	NA	Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.888C>T	6.37:g.112508730G>A		NA	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	37	CCDS43491.1	8|8	0.003663003663003663|0.003663003663003663	8|8	0.016260162601626018|0.016260162601626018	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	8.223|8.223	0.803008|0.803008	0.16397|0.16397	0.011348|0.011348	0.0|0.0	ENSG00000112769|ENSG00000112769	ENST00000368640|ENST00000521732	.|.	.|.	.|.	5.9|5.9	-11.0|-11.0	0.00169|0.00169	.|.	.|.	.|.	.|.	.|.	T|T	0.15089|0.15089	0.0364|0.0364	.|.	.|.	.|.	0.45161|0.45161	D|D	0.998171|0.998171	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.42649|0.42649	-0.9439|-0.9439	4|4	.|.	.|.	.|.	.|.	1.2265|1.2265	0.01934|0.01934	0.3928:0.234:0.1963:0.1769|0.3928:0.234:0.1963:0.1769	rs17073495;rs17073495|rs17073495;rs17073495	.|.	.|.	.|.	L|W	100|109	.|.	.|.	P|R	-|-	2|1	0|2	LAMA4|LAMA4	112615423|112615423	0.000000|0.000000	0.05858|0.05858	0.045000|0.045000	0.18777|0.18777	0.658000|0.658000	0.38924|0.38924	-3.407000|-3.407000	0.00481|0.00481	-1.865000|-1.865000	0.01147|0.01147	0.655000|0.655000	0.94253|0.94253	CCG|CGG	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041876.2		-	ENST00000230538.7	Silent	SNP	6 : 112508730 - 112508730 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	182	46
ERBB2IP	55914	broad.mit.edu	37	5	65371060	65371060	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:65371060T>C	ENST00000511297.1	+	22	3965		c.e22+2		ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000503913.1_Intron|ERBB2IP_ENST00000380939.2_Splice_Site|ERBB2IP_ENST00000380936.1_Splice_Site|ERBB2IP_ENST00000416865.2_Splice_Site|ERBB2IP_ENST00000284037.5_Splice_Site|ERBB2IP_ENST00000380935.1_Intron|ERBB2IP_ENST00000506030.1_Splice_Site|ERBB2IP_ENST00000380938.2_Splice_Site|ERBB2IP_ENST00000380943.2_Splice_Site			Q96RT1	LAP2_HUMAN	erbb2 interacting protein	NA					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AAACAAGAGGTAAGAATAATC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	69	69			NA	NA	5		NA											NA				65371060		2203	4300	6503	SO:0001630	splice_region_variant				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851	55914	55914			15842	protein-coding gene	gene with protein product	densin-180-like protein, ERBB2-interacting protein	606944	erbb2-interacting protein		NA	10574462, 10878805	Standard	NM_018695	NM_001253697	NA	Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000511297.1:c.3828+2T>C	5.37:g.65371060T>C		NA	Q86W38|Q9NR18|Q9NW48|Q9ULJ5	37	CCDS58951.1	.	.	.	.	.	.	.	.	.	.	T	17.50	3.405358	0.62288	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380938;ENST00000511297;ENST00000506030	.	.	.	5.57	4.36	0.52297	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0104	0.53284	0.1291:0.0:0.0:0.8709	.	.	.	.	.	-1	.	.	.	+	.	.	ERBB2IP	65406816	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.359000	0.66074	2.113000	0.64589	0.528000	0.53228	.	ERBB2IP-006	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368829.1	Intron	+	ENST00000511297.1	Splice_Site	SNP	5 : 65371060 - 65371060 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	499	95
TMCO6	55374	broad.mit.edu	37	5	140023463	140023463	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140023463G>T	ENST00000394671.3	+	9	1118	c.1017G>T	c.(1015-1017)gtG>gtT	p.V339V	NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000252100.6_Silent_p.V345V|TMCO6_ENST00000537378.1_Silent_p.V99V	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	339					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGTGTTGTGGCAGCCTTAT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	104	101			NA	NA	5		NA											NA				140023463		2075	4235	6310	SO:0001819	synonymous_variant			BC001910	CCDS4233.2, CCDS75320.1	5q31.3	2008-11-06			ENSG00000113119	ENSG00000113119	55374	55374			28814	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_018502	XM_005268476	NA	Approved	FLJ39769, PRO1580	uc003lgl.3	Q96DC7	OTTHUMG00000129497	ENST00000394671.3:c.1017G>T	5.37:g.140023463G>T		NA	Q9BUU0|Q9P198	37	CCDS4233.2																																																																																			TMCO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251666.2		+	ENST00000394671.3	Silent	SNP	5 : 140023463 - 140023463 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	427	85
VPS36	51028	broad.mit.edu	37	13	52991255	52991255	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52991255G>A	ENST00000378060.4	-	12	954	c.927C>T	c.(925-927)ggC>ggT	p.G309G		NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	309					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		TTACCATGACGCCACTGTCAA	0.468		NA												1	5e-04	NA	NA	2184	NA	1	,	,	NA	2e-04	0.0013	NA	NA	5e-04	1	EXOME	NA	NA	3e-04	SNP								NA				0													69	61	64			NA	NA	13		NA											NA				52991255		2203	4300	6503	SO:0001819	synonymous_variant			AF151903	CCDS9434.1, CCDS73577.1	13q14.13	2008-02-05	2007-01-12	2005-08-02	ENSG00000136100	ENSG00000136100	51028	51028			20312	protein-coding gene	gene with protein product		610903	chromosome 13 open reading frame 9, vacuolar protein sorting 36 homolog (yeast)	C13orf9	NA	11278625, 15755741	Standard		NM_016075	NA	Approved	CGI-145, Eap45	uc001vgs.3	Q86VN1	OTTHUMG00000016964	ENST00000378060.4:c.927C>T	13.37:g.52991255G>A		NA	A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	37	CCDS9434.1																																																																																			VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045059.3		-	ENST00000378060.4	Silent	SNP	13 : 52991255 - 52991255 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	193	34
PNMA5	114824	broad.mit.edu	37	X	152159032	152159032	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:152159032C>T	ENST00000439251.1	-	2	1549	c.1111G>A	c.(1111-1113)Gca>Aca	p.A371T	PNMA5_ENST00000361887.5_Missense_Mutation_p.A371T|PNMA5_ENST00000535214.1_Missense_Mutation_p.A371T|PNMA5_ENST00000452693.1_Missense_Mutation_p.A371T	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	371					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGACCTTGCCTGCACGGTG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	75	78			NA	NA	X		NA											NA				152159032		2203	4300	6503	SO:0001583	missense			AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883	114824	114824		Paraneoplastic Ma antigens	18743	protein-coding gene	gene with protein product	paraneoplastic antigen family 5	300916	paraneoplastic antigen like 5		NA	16214224	Standard	NM_052926	NM_052926	NA	Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.1111G>A	X.37:g.152159032C>T	ENSP00000388850:p.Ala371Thr	NA	B4DI72|Q495L5|Q8NET3	37	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	c	10.48	1.361264	0.24684	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.08896	3.04;3.04;3.04;3.04	3.13	-0.979	0.10276	.	.	.	.	.	T	0.04452	0.0122	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.46898	-0.9158	9	0.16420	T	0.52	-24.3667	3.8085	0.08788	0.0:0.3323:0.3985:0.2692	.	371	Q96PV4	PNMA5_HUMAN	T	371	ENSP00000354834:A371T;ENSP00000445775:A371T;ENSP00000388850:A371T;ENSP00000392342:A371T	ENSP00000354834:A371T	A	-	1	0	PNMA5	151909688	0.005000	0.15991	0.001000	0.08648	0.028000	0.11728	-0.928000	0.03980	-0.376000	0.07943	-0.880000	0.02959	GCA	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060925.1		-	ENST00000439251.1	Missense_Mutation	SNP	X : 152159032 - 152159032 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	114
ZNF648	127665	broad.mit.edu	37	1	182026618	182026618	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182026618C>T	ENST00000339948.3	-	2	735	c.528G>A	c.(526-528)gcG>gcA	p.A176A		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CACTTTTGTGCGCACAGAGAT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(71;908 1374 5429 20458 35642)							NA				0													66	69	68			NA	NA	1		NA											NA				182026618		2203	4300	6503	SO:0001819	synonymous_variant			AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930	127665	127665		Zinc fingers, C2H2-type	18190	protein-coding gene	gene with protein product					NA		Standard	XM_060597	NM_001009992	NA	Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.528G>A	1.37:g.182026618C>T		NA	B2RP16	37	CCDS30952.1																																																																																			ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090794.1		-	ENST00000339948.3	Silent	SNP	1 : 182026618 - 182026618 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	284	52
SLC26A11	284129	broad.mit.edu	37	17	78215619	78215619	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78215619C>T	ENST00000361193.3	+	10	1315	c.1035C>T	c.(1033-1035)atC>atT	p.I345I	SLC26A11_ENST00000572725.1_Splice_Site_p.I345I|SLC26A11_ENST00000546047.2_Splice_Site_p.I345I|SLC26A11_ENST00000411502.3_Splice_Site_p.I345I	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	345						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGCTGGCCATCGGTAAGACCC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,,	1,4405	2.1+/-5.4	0,1,2202	85	89	87		1035,1035,1035,1035	-7.6	0.3	17		87	0,8600		0,0,4300	no	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	SLC26A11	NM_001166347.1,NM_001166348.1,NM_001166349.1,NM_173626.3	,,,	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	,,,	345/607,345/607,345/607,345/607	78215619	1,13005	2203	4300	6503	SO:0001630	splice_region_variant				CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045	284129	284129		Solute carriers	14471	protein-coding gene	gene with protein product		610117	solute carrier family 26, member 11		NA		Standard		NM_001166347	NA	Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.1036+1C>T	17.37:g.78215619C>T		NA	B2RCI7|Q86VX1|Q86YX7|Q8IV11|Q8N2I1|Q8NG03	37	CCDS11771.2																																																																																			SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257281.1	Silent	+	ENST00000361193.3	Splice_Site	SNP	17 : 78215619 - 78215619 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	704	132
USP53	54532	broad.mit.edu	37	4	120177606	120177606	+	Missense_Mutation	SNP	G	G	A	rs141895329	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120177606G>A	ENST00000274030.6	+	9	1676	c.497G>A	c.(496-498)cGt>cAt	p.R166H	USP53_ENST00000450251.1_Missense_Mutation_p.R166H	NM_019050.2	NP_061923.2	Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	166					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TGTGTGTGTCGTAGCTGTGGA	0.333		NA											G	1	5e-04	NA	NA	2184	NA	0.9998	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.854	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0								G	HIS/ARG	1,3779		0,1,1889	168	160	163		497	4.8	1	4	dbSNP_134	163	0,8244		0,0,4122	yes	missense	USP53	NM_019050.2	29	0,1,6011	AA,AG,GG	NA	0.0,0.0265,0.0083	probably-damaging	166/1074	120177606	1,12023	1890	4122	6012	SO:0001583	missense			BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390	54532	54532		Ubiquitin-specific peptidases	29255	protein-coding gene	gene with protein product			ubiquitin specific protease 53		NA	10718198, 14715245	Standard	XM_052597	NM_019050	NA	Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.497G>A	4.37:g.120177606G>A	ENSP00000274030:p.Arg166His	NA	Q68DA5|Q8WVQ5|Q9P2J7	37	CCDS43265.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	18.82	3.705380	0.68615	2.65E-4	0.0	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.31510	1.49;1.49	5.6	4.76	0.60689	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.156127	0.64402	N	0.000016	T	0.40372	0.1114	L	0.31065	0.9	0.36361	D	0.860725	D	0.89917	1.0	D	0.79784	0.993	T	0.49113	-0.8973	10	0.52906	T	0.07	-11.342	9.8648	0.41136	0.0731:0.1396:0.7873:0.0	.	166	Q70EK8	UBP53_HUMAN	H	166	ENSP00000274030:R166H;ENSP00000409906:R166H	ENSP00000274030:R166H	R	+	2	0	USP53	120397054	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.720000	0.68470	1.354000	0.45846	0.563000	0.77884	CGT	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364564.2		+	ENST00000274030.6	Missense_Mutation	SNP	4 : 120177606 - 120177606 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	546	99
CCRL2	9034	broad.mit.edu	37	3	46449860	46449860	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46449860C>A	ENST00000399036.3	+	2	642	c.290C>A	c.(289-291)gCt>gAt	p.A97D	CCRL2_ENST00000357392.4_Missense_Mutation_p.A109D|CCRL2_ENST00000400882.2_Missense_Mutation_p.A97D|CCRL2_ENST00000400880.3_Missense_Mutation_p.A97D	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2	NA					chemotaxis|inflammatory response	integral to plasma membrane	CCR chemokine receptor binding|chemokine receptor activity			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		TGGGCTCATGCTGGGGGCGAT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	85	85			NA	NA	3		NA											NA				46449860		2006	4156	6162	SO:0001583	missense			AF014958	CCDS43079.1, CCDS46814.1	3p21	2013-07-18	2013-07-18	2013-07-18	ENSG00000121797	ENSG00000121797	NA	9034		GPCR / Class A : Chemokine receptors : Atypical	1612	protein-coding gene	gene with protein product	atypical chemokine receptor 5	608379			NA	9473515	Standard		NM_001130910	NA	Approved	HCR, CRAM-B, CKRX, CRAM-A, ACKR5	uc003cpp.4	O00421	OTTHUMG00000156318	ENST00000399036.3:c.290C>A	3.37:g.46449860C>A	ENSP00000381994:p.Ala97Asp	NA	B4DKQ8|O75307|Q4VBB0|Q6IPX0|Q96KP5|Q9UPG0	37	CCDS43079.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090831	0.36855	.	.	ENSG00000121797	ENST00000399036;ENST00000357392;ENST00000400880;ENST00000433848;ENST00000400882	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	5.25	3.42	0.39159	GPCR, rhodopsin-like superfamily (1);	3.140400	0.01209	N	0.007788	T	0.29321	0.0730	N	0.17474	0.49	0.09310	N	1	B;B	0.20671	0.038;0.047	B;B	0.19391	0.015;0.025	T	0.30851	-0.9964	10	0.72032	D	0.01	.	8.8988	0.35481	0.1536:0.5197:0.3267:0.0	.	109;97	O00421-2;O00421	.;CCRL2_HUMAN	D	97;109;97;97;97	ENSP00000381994:A97D;ENSP00000349967:A109D;ENSP00000383677:A97D;ENSP00000414957:A97D;ENSP00000383678:A97D	ENSP00000349967:A109D	A	+	2	0	CCRL2	46424864	0.001000	0.12720	0.000000	0.03702	0.035000	0.12851	1.614000	0.36911	0.556000	0.29098	0.491000	0.48974	GCT	CCRL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343909.2		+	ENST00000399036.3	Missense_Mutation	SNP	3 : 46449860 - 46449860 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	458	74
MACROD2	140733	broad.mit.edu	37	20	16021894	16021894	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:16021894G>T	ENST00000407045.3	+	4	392	c.155G>T	c.(154-156)aGt>aTt	p.S52I	MACROD2_ENST00000217246.4_Missense_Mutation_p.S401I|MACROD2_ENST00000378058.3_Missense_Mutation_p.S166I|MACROD2_ENST00000402914.1_Missense_Mutation_p.S166I|MACROD2_ENST00000310348.4_Missense_Mutation_p.S401I			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	401										breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GAAGGCTCCAGTGACCTAGAA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	80	80			NA	NA	20		NA											NA				16021894		2203	4299	6502	SO:0001583	missense			BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264	140733	140733			16126	protein-coding gene	gene with protein product		611567	chromosome 20 open reading frame 133	C20orf133	NA		Standard	NM_080676	NM_080676	NA	Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000407045.3:c.155G>T	20.37:g.16021894G>T	ENSP00000385516:p.Ser52Ile	NA	A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	37		.	.	.	.	.	.	.	.	.	.	G	3.203	-0.163362	0.06502	.	.	ENSG00000172264	ENST00000217246;ENST00000310348;ENST00000402914;ENST00000378058;ENST00000407045	T;T;T;T	0.51325	2.03;2.3;0.71;0.71	5.37	2.31	0.28768	.	1.218200	0.05691	N	0.592088	T	0.45034	0.1322	L	0.36672	1.1	0.09310	N	1	B;B;B	0.18461	0.023;0.017;0.028	B;B;B	0.32583	0.148;0.01;0.022	T	0.49041	-0.8980	10	0.87932	D	0	2.7006	8.5224	0.33285	0.1475:0.0:0.7257:0.1268	.	52;401;401	A1Z1Q3-6;A1Z1Q3;A1Z1Q3-2	.;MACD2_HUMAN;.	I	401;401;166;166;52	ENSP00000217246:S401I;ENSP00000309809:S401I;ENSP00000385290:S166I;ENSP00000367297:S166I	ENSP00000217246:S401I	S	+	2	0	MACROD2	15969894	0.004000	0.15560	0.002000	0.10522	0.081000	0.17604	0.922000	0.28734	0.071000	0.16664	-0.797000	0.03246	AGT	MACROD2-012	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000078098.3		+	ENST00000407045.3	Missense_Mutation	SNP	20 : 16021894 - 16021894 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	160	25
SASH1	23328	broad.mit.edu	37	6	148852764	148852764	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:148852764C>A	ENST00000367467.3	+	13	2006	c.1531C>A	c.(1531-1533)Ctt>Att	p.L511I		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	511							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TGTAGAAAGTCTTCGCAGTTC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	73	76			NA	NA	6		NA											NA				148852764		2203	4300	6503	SO:0001583	missense			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961	23328	23328		SAM and SH3 domain containing, Sterile alpha motif (SAM) domain containing	19182	protein-coding gene	gene with protein product		607955			NA	9872452, 12771949	Standard	NM_015278	NM_015278	NA	Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1531C>A	6.37:g.148852764C>A	ENSP00000356437:p.Leu511Ile	NA	Q5TGN5|Q8TAI0|Q9H7R7	37	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	C	33	5.217478	0.95104	.	.	ENSG00000111961	ENST00000367467;ENST00000535767	T	0.53206	0.63	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.64011	0.2560	M	0.71206	2.165	0.53005	D	0.999962	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.65541	-0.6143	10	0.54805	T	0.06	-14.2685	19.0299	0.92952	0.0:1.0:0.0:0.0	.	492;511	Q6P4R9;O94885	.;SASH1_HUMAN	I	511;272	ENSP00000356437:L511I	ENSP00000356437:L511I	L	+	1	0	SASH1	148894457	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.503000	0.84419	0.655000	0.94253	CTT	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042619.1		+	ENST00000367467.3	Missense_Mutation	SNP	6 : 148852764 - 148852764 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	255	18
MGAT5	4249	broad.mit.edu	37	2	135028024	135028024	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:135028024G>A	ENST00000409645.1	+	3	561	c.309G>A	c.(307-309)aaG>aaA	p.K103K	MGAT5_ENST00000281923.2_Silent_p.K103K			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	103					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TGGAGTCGAAGGTGGACAATC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	117	121			NA	NA	2		NA											NA				135028024		2203	4300	6503	SO:0001819	synonymous_variant			D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	4249	4249	2.4.1.155	Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases	7049	protein-coding gene	gene with protein product		601774			NA	8292036	Standard	NM_002410	NM_002410	NA	Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.309G>A	2.37:g.135028024G>A		NA	D3DP70	37	CCDS2171.1																																																																																			MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254584.3		+	ENST00000409645.1	Silent	SNP	2 : 135028024 - 135028024 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	325	33
SLC9B2	133308	broad.mit.edu	37	4	103970160	103970160	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:103970160C>A	ENST00000503103.1	-	5	622	c.432G>T	c.(430-432)aaG>aaT	p.K144N	SLC9B2_ENST00000394785.3_Missense_Mutation_p.K201N|SLC9B2_ENST00000362026.3_Missense_Mutation_p.K201N|SLC9B2_ENST00000503230.1_Missense_Mutation_p.K144N|SLC9B2_ENST00000339611.4_Missense_Mutation_p.K201N			Q86UD5	NHDC2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	201					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity				NA						CACAAACGCCCTTTAACTTCT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	84	89			NA	NA	4		NA											NA				103970160		2203	4300	6503	SO:0001583	missense			AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038	133308	133308		Solute carriers	25143	protein-coding gene	gene with protein product		611789	Na+/H+ exchanger domain containing 2, solute carrier family 9, subfamily B (cation proton antiporter 2), member 2	NHEDC2	NA	18600791	Standard	NM_178833	XM_005262758	NA	Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000503103.1:c.432G>T	4.37:g.103970160C>A	ENSP00000425385:p.Lys144Asn	NA	B5ME52|Q6ZMD8|Q96D95	37		.	.	.	.	.	.	.	.	.	.	C	13.93	2.385091	0.42308	.	.	ENSG00000164038	ENST00000362026;ENST00000506288;ENST00000339611;ENST00000394785;ENST00000503103;ENST00000503230	T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38	5.39	0.641	0.17759	.	0.000000	0.85682	D	0.000000	T	0.38427	0.1040	M	0.83223	2.63	0.41958	D	0.990692	D;D;D;D	0.76494	0.998;0.987;0.999;0.997	D;D;D;D	0.73708	0.966;0.955;0.981;0.918	T	0.20438	-1.0275	10	0.27785	T	0.31	-8.6937	11.46	0.50204	0.0:0.5917:0.0:0.4083	.	144;144;201;201	B7Z676;E9PE63;Q86UD5-2;Q86UD5	.;.;.;SL9B2_HUMAN	N	201;101;201;201;144;144	ENSP00000354574:K201N;ENSP00000421943:K101N;ENSP00000345241:K201N;ENSP00000378265:K201N;ENSP00000425385:K144N;ENSP00000422477:K144N	ENSP00000345241:K201N	K	-	3	2	SLC9B2	104189609	0.999000	0.42202	0.999000	0.59377	0.629000	0.37895	0.605000	0.24179	0.079000	0.16929	0.591000	0.81541	AAG	SLC9B2-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000363236.1		-	ENST00000503103.1	Missense_Mutation	SNP	4 : 103970160 - 103970160 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	178	19
PRKAA2	5563	broad.mit.edu	37	1	57170116	57170116	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:57170116C>T	ENST00000371244.4	+	7	1327	c.1261C>T	c.(1261-1263)Cga>Tga	p.R421*		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	421					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						TGAAGTTTACCGAGCTATGAA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	91	90			NA	NA	1		NA											NA				57170116		2203	4300	6503	SO:0001587	stop_gained			BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409	5563	5563			9377	protein-coding gene	gene with protein product		600497		PRKAA	NA	7959015	Standard	NM_006252	NM_006252	NA	Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.1261C>T	1.37:g.57170116C>T	ENSP00000360290:p.Arg421*	NA	Q9H1E8|Q9UD43	37	CCDS605.1	.	.	.	.	.	.	.	.	.	.	C	38	6.757115	0.97817	.	.	ENSG00000162409	ENST00000371244	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.5127	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	421	.	ENSP00000360290:R421X	R	+	1	2	PRKAA2	56942704	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.170000	0.42443	2.941000	0.99782	0.655000	0.94253	CGA	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022753.2		+	ENST00000371244.4	Nonsense_Mutation	SNP	1 : 57170116 - 57170116 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	598	120
OR7E24	26648	broad.mit.edu	37	19	9362432	9362432	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9362432A>C	ENST00000456448.1	+	1	827	c.713A>C	c.(712-714)aAa>aCa	p.K238T		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TCTTACTATAAAATTGTTTCC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	29	29			NA	NA	19		NA											NA				9362432		1915	4146	6061	SO:0001583	missense			Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521	26648	26648		GPCR / Class A : Olfactory receptors	8396	protein-coding gene	gene with protein product			olfactory receptor, family 7, subfamily E, member 24 pseudogene	OR7E24P	NA	9268701	Standard		NM_001079935	NA	Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.713A>C	19.37:g.9362432A>C	ENSP00000387523:p.Lys238Thr	NA	B9EJD9|Q9UPJ1	37	CCDS45955.1	.	.	.	.	.	.	.	.	.	.	a	14.88	2.666845	0.47677	.	.	ENSG00000237521	ENST00000456448	T	0.00084	8.75	2.21	-1.3	0.09259	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00328	0.0010	M	0.73319	2.225	0.09310	N	1	D	0.67145	0.996	D	0.66196	0.942	T	0.45352	-0.9267	9	0.87932	D	0	.	7.2389	0.26086	0.481:0.0:0.519:0.0	.	238	Q6IFN5	O7E24_HUMAN	T	238	ENSP00000387523:K238T	ENSP00000387523:K238T	K	+	2	0	OR7E24	9223432	0.000000	0.05858	0.000000	0.03702	0.612000	0.37316	-1.031000	0.03578	-0.447000	0.07138	0.358000	0.22013	AAA	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449006.1		+	ENST00000456448.1	Missense_Mutation	SNP	19 : 9362432 - 9362432 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	104	22
CRB1	23418	broad.mit.edu	37	1	197298117	197298117	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197298117T>C	ENST00000367399.2	+	2	636	c.636T>C	c.(634-636)tgT>tgC	p.C212C	CRB1_ENST00000367400.3_Silent_p.C212C|CRB1_ENST00000538660.1_Silent_p.C212C|CRB1_ENST00000535699.1_Silent_p.C143C	NM_001193640.1	NP_001180569.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	327	EGF-like 5; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTTGTATCTGTCCCCACAATT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	49	50			NA	NA	1		NA											NA				197298117		2203	4300	6503	SO:0001819	synonymous_variant				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376	23418	23418			2343	protein-coding gene	gene with protein product		604210	crumbs (Drosophila) homolog 1, crumbs homolog 1 (Drosophila)	RP12	NA	10373321, 10508521	Standard	NM_201253	NM_201253	NA	Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367399.2:c.636T>C	1.37:g.197298117T>C		NA	A2A308|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0	37	CCDS53454.1																																																																																			CRB1-005	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280653.1		+	ENST00000367399.2	Silent	SNP	1 : 197298117 - 197298117 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	223	61
ABL1	25	broad.mit.edu	37	9	133730325	133730325	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133730325C>T	ENST00000318560.5	+	3	772	c.391C>T	c.(391-393)Cct>Tct	p.P131S		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	131	SH2.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GTACCATGGGCCTGTGTCCCG	0.562		NA	T, Mis	BCR, ETV6, NUP214	CML, ALL, T-ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	0													128	102	111			NA	NA	9		NA											NA				133730325		2203	4300	6503	SO:0001583	missense			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007	25	25		SH2 domain containing	76	protein-coding gene	gene with protein product		189980	v-abl Abelson murine leukemia viral oncogene homolog 1, c-abl oncogene 1, receptor tyrosine kinase, c-abl oncogene 1, non-receptor tyrosine kinase	ABL	NA	1857987, 12626632	Standard	NM_007313	NM_007313	NA	Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.391C>T	9.37:g.133730325C>T	ENSP00000323315:p.Pro131Ser	NA	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	37	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	C	32	5.157772	0.94686	.	.	ENSG00000097007	ENST00000372348;ENST00000318560	D;D	0.87729	-2.29;-2.29	5.67	5.67	0.87782	SH2 motif (5);	0.000000	0.85682	D	0.000000	T	0.81758	0.4890	N	0.11201	0.11	0.80722	D	1	P;P	0.39250	0.665;0.665	B;B	0.43478	0.421;0.421	D	0.84783	0.0774	10	0.87932	D	0	.	18.8246	0.92111	0.0:1.0:0.0:0.0	.	131;168	P00519;Q59FK4	ABL1_HUMAN;.	S	150;131	ENSP00000361423:P150S;ENSP00000323315:P131S	ENSP00000323315:P131S	P	+	1	0	ABL1	132720146	1.000000	0.71417	0.914000	0.36105	0.984000	0.73092	7.744000	0.85034	2.677000	0.91161	0.638000	0.83543	CCT	ABL1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054684.1		+	ENST00000318560.5	Missense_Mutation	SNP	9 : 133730325 - 133730325 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	370	18
ADAMTS19	171019	broad.mit.edu	37	5	129019923	129019923	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:129019923G>A	ENST00000274487.4	+	18	2902	c.2757G>A	c.(2755-2757)tgG>tgA	p.W919*	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	919	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TCTTCATGTGGACACACACAA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	87	88			NA	NA	5		NA											NA				129019923		2203	4300	6503	SO:0001587	stop_gained			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808	171019	171019		ADAM metallopeptidases with thrombospondin type 1 motif	17111	protein-coding gene	gene with protein product		607513	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19		NA	11867212	Standard	NM_133638	NM_133638	NA	Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2757G>A	5.37:g.129019923G>A	ENSP00000274487:p.Trp919*	NA		37	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	41	8.818119	0.98966	.	.	ENSG00000145808	ENST00000274487	.	.	.	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.655	0.91450	0.0:0.0:1.0:0.0	.	.	.	.	X	919	.	.	W	+	3	0	ADAMTS19	129047822	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.301000	0.89951	2.821000	0.97095	0.650000	0.86243	TGG	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250979.2		+	ENST00000274487.4	Nonsense_Mutation	SNP	5 : 129019923 - 129019923 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	437	84
STAR	6770	broad.mit.edu	37	8	38002748	38002748	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38002748C>T	ENST00000276449.4	-	6	1182	c.736G>A	c.(736-738)Gac>Aac	p.D246N		NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	246	START.				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		ACCTTGAGGTCGATGCTGAGT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	99	107			NA	NA	8		NA											NA				38002748		2203	4300	6503	SO:0001583	missense			BC010550	CCDS6102.1	8p11.2	2011-09-13	2007-05-15		ENSG00000147465	ENSG00000147465	6770	6770		StAR-related lipid transfer (START) domain containing	11359	protein-coding gene	gene with protein product	StAR-related lipid transfer (START) domain containing 1	600617	steroidogenic acute regulator		NA	7761400	Standard	NM_000349	NM_000349	NA	Approved	StAR, STARD1	uc003xkv.1	P49675	OTTHUMG00000164058	ENST00000276449.4:c.736G>A	8.37:g.38002748C>T	ENSP00000276449:p.Asp246Asn	NA	Q16396	37	CCDS6102.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417682	0.83449	.	.	ENSG00000147465	ENST00000276449;ENST00000522753	D	0.84370	-1.84	5.86	5.86	0.93980	Lipid-binding START (3);START-like domain (1);	0.000000	0.85682	D	0.000000	D	0.93207	0.7836	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.983;0.998	D	0.92218	0.5782	10	0.45353	T	0.12	-45.589	20.1931	0.98233	0.0:1.0:0.0:0.0	.	208;246	E7ETA9;P49675	.;STAR_HUMAN	N	246;208	ENSP00000276449:D246N	ENSP00000276449:D246N	D	-	1	0	STAR	38121905	1.000000	0.71417	0.997000	0.53966	0.473000	0.32948	6.559000	0.73946	2.771000	0.95319	0.563000	0.77884	GAC	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376990.2		-	ENST00000276449.4	Missense_Mutation	SNP	8 : 38002748 - 38002748 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	65
CDK9	1025	broad.mit.edu	37	9	130551610	130551610	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130551610C>T	ENST00000373264.4	+	7	1007	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C	CDK9_ENST00000373265.2_Missense_Mutation_p.R420C	NM_001261.3	NP_001252.1	P50750	CDK9_HUMAN	cyclin-dependent kinase 9	303	Protein kinase.				cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.R303C(1)		lung(1)	1						CCCTGCCCAGCGCATCGACAG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											161	96	118			NA	NA	9		NA											NA				130551610		2203	4300	6503	SO:0001583	missense			L25676	CCDS6879.1	9q34.1	2011-11-08	2007-11-21		ENSG00000136807	ENSG00000136807	1025	1025		Cyclin-dependent kinases	1780	protein-coding gene	gene with protein product		603251	cyclin-dependent kinase 9 (CDC2-related kinase)	CDC2L4	NA	8170997, 9356449	Standard		NM_001261	NA	Approved	PITALRE, C-2k, TAK	uc004bse.2	P50750	OTTHUMG00000020715	ENST00000373264.4:c.907C>T	9.37:g.130551610C>T	ENSP00000362361:p.Arg303Cys	NA	Q5JU24|Q5JU25|Q5U006|Q96TF1	37	CCDS6879.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127329	0.77549	.	.	ENSG00000136807	ENST00000373265;ENST00000373264	T;T	0.74947	-0.89;-0.89	5.52	4.61	0.57282	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91226	0.7235	H	0.99609	4.655	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.92468	0.5983	10	0.87932	D	0	-8.2494	8.841	0.35142	0.1461:0.7767:0.0:0.0772	.	303	P50750	CDK9_HUMAN	C	420;303	ENSP00000362362:R420C;ENSP00000362361:R303C	ENSP00000362361:R303C	R	+	1	0	CDK9	129591431	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	2.550000	0.45811	2.587000	0.87381	0.591000	0.81541	CGC	CDK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054235.1		+	ENST00000373264.4	Missense_Mutation	SNP	9 : 130551610 - 130551610 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	372	92
MRPS23	51649	broad.mit.edu	37	17	55917297	55917297	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:55917297C>A	ENST00000313608.8	-	5	466		c.e5-1			NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23	NA					translation	intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					CTCCGTGTTGCTTAAAAGACC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	90	95			NA	NA	17		NA											NA				55917297		2203	4300	6503	SO:0001630	splice_region_variant			AB061206	CCDS11598.1	17q22-q23	2012-09-13				ENSG00000181610	51649	51649		Mitochondrial ribosomal proteins / small subunits	14509	protein-coding gene	gene with protein product		611985			NA	11279123	Standard	NM_016070	NM_016070	NA	Approved	MRP-S23, CGI-138, HSPC329	uc002ivc.3	Q9Y3D9		ENST00000313608.8:c.421-1G>T	17.37:g.55917297C>A		NA	B2R6V3|Q96Q24|Q9BWH8|Q9P053	37	CCDS11598.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528459	0.44969	.	.	ENSG00000181610	ENST00000313608	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.708	0.77602	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MRPS23	53272296	0.930000	0.31532	0.453000	0.27007	0.010000	0.07245	0.503000	0.22610	2.781000	0.95711	0.655000	0.94253	.	MRPS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443301.1	Intron	-	ENST00000313608.8	Splice_Site	SNP	17 : 55917297 - 55917297 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	393	65
CNTN2	6900	broad.mit.edu	37	1	205039089	205039089	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205039089C>T	ENST00000331830.4	+	18	2615	c.2331C>T	c.(2329-2331)agC>agT	p.S777S		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	777	Fibronectin type-III 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCAACGAGAGCGTCCGGCCCT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(183;2548 2817 37099 41192)							NA				0													63	67	66			NA	NA	1		NA											NA				205039089		2203	4300	6503	SO:0001819	synonymous_variant			X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144	6900	6900		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	2172	protein-coding gene	gene with protein product		190197		TAX, AXT	NA	8307567, 8586965	Standard	NM_005076	NM_005076	NA	Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.2331C>T	1.37:g.205039089C>T		NA	P78432|Q5T054	37	CCDS1449.1																																																																																			CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090080.3		+	ENST00000331830.4	Silent	SNP	1 : 205039089 - 205039089 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	767	193
SHFM1	7979	broad.mit.edu	37	7	96324145	96324145	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:96324145A>G	ENST00000248566.2	-	2	262	c.135T>C	c.(133-135)gaT>gaC	p.D45D	SHFM1_ENST00000417009.1_Silent_p.D45D|SHFM1_ENST00000444799.1_Silent_p.D45D|SHFM1_ENST00000413065.1_Silent_p.D45D	NM_006304.1	NP_006295.1	P60896	DSS1_HUMAN	split hand/foot malformation (ectrodactyly) type 1	45	Asp/Glu-rich (highly acidic).				proteolysis	proteasome complex	peptidase activity|protein binding			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987)					CTACATTGTCATCATCCCAAT	0.333		NA						Homologous recombination						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													180	177	178			NA	NA	7		NA											NA				96324145		2203	4300	6503	SO:0001819	synonymous_variant			U41515	CCDS5646.1	7q21.3	2010-04-22			ENSG00000127922	ENSG00000127922	7979	7979			10845	protein-coding gene	gene with protein product	deleted in split-hand/foot 1	601285		SHFD1	NA	1895319, 8733122	Standard	NM_006304	NM_006304	NA	Approved	DSS1, Shfdg1, ECD, SEM1, SHSF1	uc003uoi.3	P60896	OTTHUMG00000150680	ENST00000248566.2:c.135T>C	7.37:g.96324145A>G		NA	Q13437|Q61067	37	CCDS5646.1																																																																																			SHFM1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319595.1		-	ENST00000248566.2	Silent	SNP	7 : 96324145 - 96324145 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	495	129
ALMS1	7840	broad.mit.edu	37	2	73718408	73718408	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73718408G>T	ENST00000264448.6	+	10	9430	c.9319G>T	c.(9319-9321)Gca>Tca	p.A3107S	ALMS1_ENST00000409009.1_Missense_Mutation_p.A3065S	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3107					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TAAACCTGTAGCACAGGATCA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	96	97			NA	NA	2		NA											NA				73718408		1869	4108	5977	SO:0001583	missense			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127	7840	7840			428	protein-coding gene	gene with protein product		606844			NA	9063741	Standard	NM_015120	NM_015120	NA	Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.9319G>T	2.37:g.73718408G>T	ENSP00000264448:p.Ala3107Ser	NA	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059890	0.55325	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.06849	3.25;3.25	4.0	3.12	0.35913	.	0.624751	0.14322	N	0.326937	T	0.13286	0.0322	L	0.48642	1.525	0.80722	D	1	P;P;P	0.37636	0.603;0.603;0.603	P;P;P	0.48368	0.575;0.575;0.575	T	0.05386	-1.0888	10	0.48119	T	0.1	.	7.6443	0.28311	0.1148:0.0:0.8852:0.0	.	3107;3065;3107	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	S	3065;3107	ENSP00000386627:A3065S;ENSP00000264448:A3107S	ENSP00000264448:A3107S	A	+	1	0	ALMS1	73571916	0.990000	0.36364	0.978000	0.43139	0.961000	0.63080	0.899000	0.28417	1.279000	0.44446	0.580000	0.79431	GCA	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327776.1		+	ENST00000264448.6	Missense_Mutation	SNP	2 : 73718408 - 73718408 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	522	22
TNC	3371	broad.mit.edu	37	9	117827095	117827095	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117827095A>C	ENST00000341037.4	-	10	3446	c.3318T>G	c.(3316-3318)atT>atG	p.I1106M	TNC_ENST00000535648.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.I1106M|TNC_ENST00000345230.3_Intron|TNC_ENST00000350763.4_Missense_Mutation_p.I1106M|TNC_ENST00000542877.1_Intron			P24821	TENA_HUMAN	tenascin C	1106	Fibronectin type-III 6.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCTGCACCTGAATGATAAAGT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	90	96			NA	NA	9		NA											NA				117827095		2203	4300	6503	SO:0001583	missense				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982	3371	3371		Fibrinogen C domain containing, Fibronectin type III domain containing	5318	protein-coding gene	gene with protein product	hexabrachion (tenascin)	187380	hexabrachion (tenascin C, cytotactin), deafness, autosomal dominant 56	HXB, DFNA56	NA	1704365, 1707164, 23936043	Standard	NM_002160	NM_002160	NA	Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000341037.4:c.3318T>G	9.37:g.117827095A>C	ENSP00000339553:p.Ile1106Met	NA	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.00|14.00	2.406097|2.406097	0.42715|0.42715	.|.	.|.	ENSG00000041982|ENSG00000041982	ENST00000350763;ENST00000341037;ENST00000423613|ENST00000544972	T;T;T|.	0.64085|.	-0.08;-0.08;-0.08|.	5.63|5.63	3.2|3.2	0.36748|0.36748	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.069034|.	0.56097|.	D|.	0.000025|.	T|T	0.65780|0.65780	0.2724|0.2724	M|M	0.86740|0.86740	2.835|2.835	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.998|.	D;D|.	0.79108|.	0.992;0.988|.	T|T	0.63699|0.63699	-0.6578|-0.6578	10|5	0.87932|.	D|.	0|.	.|.	0.971|0.971	0.01416|0.01416	0.4264:0.1535:0.2724:0.1477|0.4264:0.1535:0.2724:0.1477	.|.	1106;1106|.	E9PC84;P24821|.	.;TENA_HUMAN|.	M|A	1106|33	ENSP00000265131:I1106M;ENSP00000339553:I1106M;ENSP00000411406:I1106M|.	ENSP00000339553:I1106M|.	I|S	-|-	3|1	3|0	TNC|TNC	116866916|116866916	0.948000|0.948000	0.32251|0.32251	1.000000|1.000000	0.80357|0.80357	0.843000|0.843000	0.47879|0.47879	0.097000|0.097000	0.15168|0.15168	0.377000|0.377000	0.24735|0.24735	-0.408000|-0.408000	0.06270|0.06270	ATT|TCA	TNC-011	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000397659.2		-	ENST00000341037.4	Missense_Mutation	SNP	9 : 117827095 - 117827095 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	616	99
CCP110	9738	broad.mit.edu	37	16	19551989	19551989	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19551989G>T	ENST00000396212.2	+	6	2365	c.1929G>T	c.(1927-1929)gaG>gaT	p.E643D	CCP110_ENST00000381396.5_Missense_Mutation_p.E643D|CCP110_ENST00000396208.2_Missense_Mutation_p.E643D	NM_014711.4	NP_055526	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	643					centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						AAAGCGAGGAGTTACTAAAAA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	62	63			NA	NA	16		NA											NA				19551989		2197	4300	6497	SO:0001583	missense			AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540	9738	9738			24342	protein-coding gene	gene with protein product		609544			NA	9455477, 12361598, 16760425	Standard	NM_014711	NM_014711	NA	Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000396212.2:c.1929G>T	16.37:g.19551989G>T	ENSP00000379515:p.Glu643Asp	NA	B7WP23|O43335|Q68DV9|Q8NE13	37	CCDS10579.1	.	.	.	.	.	.	.	.	.	.	G	9.226	1.034583	0.19590	.	.	ENSG00000103540	ENST00000396212;ENST00000381396;ENST00000396208	T;T;T	0.17691	2.26;2.26;2.26	6.04	0.00657	0.14068	.	0.389459	0.28016	N	0.016932	T	0.13884	0.0336	L	0.58101	1.795	0.09310	N	0.999998	B;B	0.14805	0.011;0.011	B;B	0.13407	0.009;0.009	T	0.16928	-1.0386	10	0.45353	T	0.12	-0.0396	4.6877	0.12765	0.305:0.0:0.3805:0.3145	.	643;643	O43303;O43303-2	CP110_HUMAN;.	D	643	ENSP00000379515:E643D;ENSP00000370803:E643D;ENSP00000379511:E643D	ENSP00000370803:E643D	E	+	3	2	CCP110	19459490	0.740000	0.28207	0.388000	0.26195	0.924000	0.55760	0.204000	0.17335	0.125000	0.18397	-0.156000	0.13503	GAG	CCP110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254283.2		+	ENST00000396212.2	Missense_Mutation	SNP	16 : 19551989 - 19551989 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	196	31
KIAA2018	205717	broad.mit.edu	37	3	113374605	113374605	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113374605G>A	ENST00000491165.1	-	7	667				KIAA2018_ENST00000316407.4_Missense_Mutation_p.P1975L|KIAA2018_ENST00000478658.1_Missense_Mutation_p.P1975L			Q68DE3	K2018_HUMAN	KIAA2018	NA					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGATCTCTGGGGAACTGAAGA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	74	75			NA	NA	3		NA											NA				113374605		2078	4214	6292	SO:0001627	intron_variant			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542	205717	205717			30494	protein-coding gene	gene with protein product					NA		Standard	NM_001009899	XM_005247208	NA	Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000491165.1:c.257-5908C>T	3.37:g.113374605G>A		NA	Q7Z3L9|Q8IVF3|Q9H8T4	37		.	.	.	.	.	.	.	.	.	.	g	12.16	1.855688	0.32791	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.12984	2.63;2.63	5.86	4.97	0.65823	.	0.406622	0.27270	N	0.020135	T	0.09423	0.0232	N	0.08118	0	0.37637	D	0.921903	B	0.20887	0.049	B	0.16722	0.016	T	0.12889	-1.0530	10	0.66056	D	0.02	-0.8651	16.9128	0.86144	0.0:0.1281:0.8719:0.0	.	1975	Q68DE3	K2018_HUMAN	L	1975	ENSP00000320794:P1975L;ENSP00000420721:P1975L	ENSP00000320794:P1975L	P	-	2	0	KIAA2018	114857295	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.066000	0.57520	1.443000	0.47586	0.558000	0.71614	CCC	KIAA2018-002	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000354588.2		-	ENST00000491165.1	Intron	SNP	3 : 113374605 - 113374605 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	135	8
NR4A3	8013	broad.mit.edu	37	9	102595604	102595604	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:102595604G>A	ENST00000330847.1	+	4	1199	c.1155G>A	c.(1153-1155)ctG>ctA	p.L385L	NR4A3_ENST00000338488.4_Silent_p.L374L|NR4A3_ENST00000395097.2_Silent_p.L374L			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	374					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)		NA		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GAGGTCGTCTGCCTTCCAAAC	0.453		NA	T	EWSR1	extraskeletal myxoid chondrosarcoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		9	9q22	8013	nuclear receptor subfamily 4, group A, member 3 (NOR1)		M	0													199	172	182			NA	NA	9		NA											NA				102595604		2203	4300	6503	SO:0001819	synonymous_variant			U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508	NA	8013		Nuclear hormone receptors	7982	protein-coding gene	gene with protein product		600542			NA	8614405	Standard		NM_006981	NA	Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000330847.1:c.1155G>A	9.37:g.102595604G>A		NA	A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	37	CCDS6742.1																																																																																			NR4A3-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055484.2		+	ENST00000330847.1	Silent	SNP	9 : 102595604 - 102595604 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	467	77
CDH26	60437	broad.mit.edu	37	20	58569449	58569449	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58569449A>C	ENST00000348616.4	+	11	1871	c.1571A>C	c.(1570-1572)gAt>gCt	p.D524A	CDH26_ENST00000244047.5_Missense_Mutation_p.D524A|CDH26_ENST00000497614.1_3'UTR	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	524					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GAGGCAGAGGATCCGGACCTG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	66	67			NA	NA	20		NA											NA				58569449		2203	4300	6503	SO:0001583	missense			AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215	60437	60437		Cadherins / Major cadherins	15902	protein-coding gene	gene with protein product			cadherin-like 26		NA		Standard	NM_177980	NM_177980	NA	Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000348616.4:c.1571A>C	20.37:g.58569449A>C	ENSP00000339390:p.Asp524Ala	NA	A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	37	CCDS13485.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.38|17.38	3.375377|3.375377	0.61735|0.61735	.|.	.|.	ENSG00000124215|ENSG00000124215	ENST00000244047;ENST00000348616|ENST00000370991	T;T|.	0.78003|.	-1.14;-1.14|.	4.35|4.35	2.08|2.08	0.27032|0.27032	Cadherin-like (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.63581|0.63581	0.2523|0.2523	M|M	0.89715|0.89715	3.055|3.055	0.09310|0.09310	N|N	0.999992|0.999992	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	T|T	0.56074|0.56074	-0.8039|-0.8039	10|5	0.87932|.	D|.	0|.	.|.	7.9154|7.9154	0.29814|0.29814	0.8363:0.0:0.1637:0.0|0.8363:0.0:0.1637:0.0	.|.	524;524|.	Q8IXH8;Q8IXH8-4|.	CAD26_HUMAN;.|.	A|L	524|116	ENSP00000244047:D524A;ENSP00000339390:D524A|.	ENSP00000244047:D524A|.	D|I	+|+	2|1	0|0	CDH26|CDH26	58002844|58002844	0.993000|0.993000	0.37304|0.37304	0.001000|0.001000	0.08648|0.08648	0.389000|0.389000	0.30415|0.30415	3.650000|3.650000	0.54424|0.54424	0.111000|0.111000	0.17947|0.17947	0.533000|0.533000	0.62120|0.62120	GAT|ATC	CDH26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079933.2		+	ENST00000348616.4	Missense_Mutation	SNP	20 : 58569449 - 58569449 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	38
TENM3	55714	broad.mit.edu	37	4	183594220	183594220	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:183594220C>T	ENST00000511685.1	+	7	1297	c.1174C>T	c.(1174-1176)Cga>Tga	p.R392*	TENM3_ENST00000406950.2_Nonsense_Mutation_p.R392*					teneurin transmembrane protein 3	NA											NA						TGATATTGGCCGAAGAGCAAT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	39	39			NA	NA	4		NA											NA				183594220		1808	4079	5887	SO:0001587	stop_gained			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336	55714	55714			29944	protein-coding gene	gene with protein product		610083	odz, odd Oz/ten-m homolog 3 (Drosophila)	ODZ3	NA	10331952, 10625539	Standard		NM_001080477	NA	Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.1174C>T	4.37:g.183594220C>T	ENSP00000424226:p.Arg392*	NA		37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	39	7.743866	0.98465	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.0138	0.92886	0.0:1.0:0.0:0.0	.	.	.	.	X	392	.	ENSP00000385276:R392X	R	+	1	2	ODZ3	183831214	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.583000	0.60964	2.789000	0.95967	0.650000	0.86243	CGA	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361734.1		+	ENST00000511685.1	Nonsense_Mutation	SNP	4 : 183594220 - 183594220 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	83	12
OCRL	4952	broad.mit.edu	37	X	128691392	128691392	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:128691392C>T	ENST00000371113.4	+	5	494	c.329C>T	c.(328-330)gCt>gTt	p.A110V	OCRL_ENST00000486673.1_3'UTR|OCRL_ENST00000357121.5_Missense_Mutation_p.A110V	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	110					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TTCCTCTCAGCTGTCCTTGCT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	78	81			NA	NA	X		NA											NA				128691392		2203	4300	6503	SO:0001583	missense			U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126	4952	4952			8108	protein-coding gene	gene with protein product		300535			NA		Standard	NM_000276	NM_001587	NA	Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.329C>T	X.37:g.128691392C>T	ENSP00000360154:p.Ala110Val	NA	A6NKI1|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	37	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949666	0.53186	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.94138	-3.36;-3.36	5.32	4.14	0.48551	.	0.616585	0.17225	N	0.182195	D	0.85089	0.5617	N	0.08118	0	0.25635	N	0.986265	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.76310	-0.3006	10	0.87932	D	0	.	10.5884	0.45296	0.8376:0.1624:0.0:0.0	.	110;110	Q01968-2;Q01968	.;OCRL_HUMAN	V	110	ENSP00000360154:A110V;ENSP00000349635:A110V	ENSP00000349635:A110V	A	+	2	0	OCRL	128519073	0.998000	0.40836	0.998000	0.56505	0.976000	0.68499	4.413000	0.59795	0.667000	0.31107	-0.328000	0.08392	GCT	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058917.1		+	ENST00000371113.4	Missense_Mutation	SNP	X : 128691392 - 128691392 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	139	37
TPGS2	25941	broad.mit.edu	37	18	34385438	34385438	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34385438G>A	ENST00000590842.1	-	4	355	c.281C>T	c.(280-282)gCa>gTa	p.A94V	TPGS2_ENST00000334295.4_Missense_Mutation_p.A94V|TPGS2_ENST00000593035.1_Intron|TPGS2_ENST00000587129.1_Missense_Mutation_p.A94V|TPGS2_ENST00000383056.3_Intron|TPGS2_ENST00000589049.1_Missense_Mutation_p.A94V	NM_001271951.1	NP_001258880.1	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	94						cytoplasm|microtubule					NA						GCTGTTAATTGCCATGCTTCC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													285	238	254			NA	NA	18		NA											NA				34385438		2203	4300	6503	SO:0001583	missense			BC015178	CCDS32817.1, CCDS62421.1, CCDS62422.1, CCDS62423.1, CCDS62424.1, CCDS74214.1, CCDS74215.1	18q12.2	2011-11-25	2011-11-25	2011-11-25	ENSG00000134779	ENSG00000134779	25941	25941			24561	protein-coding gene	gene with protein product			chromosome 18 open reading frame 10	C18orf10	NA	12477932	Standard	NM_015476	NM_015476	NA	Approved	DKFZP586M1523, HsT3006	uc031rhw.1	Q68CL5		ENST00000590842.1:c.281C>T	18.37:g.34385438G>A	ENSP00000464780:p.Ala94Val	NA	Q4KN59|Q8WTU3|Q96BT9|Q9Y435	37		.	.	.	.	.	.	.	.	.	.	G	2.300	-0.360289	0.05103	.	.	ENSG00000134779	ENST00000334295	T	0.28069	1.63	5.7	1.34	0.21922	Cell wall assembly/cell proliferation coordinating protein, KNR4-like (1);	0.796894	0.11948	N	0.513942	T	0.08582	0.0213	N	0.01352	-0.895	0.20074	N	0.999934	B;B	0.06786	0.001;0.001	B;B	0.08055	0.002;0.003	T	0.35674	-0.9779	10	0.02654	T	1	0.2599	7.9957	0.30267	0.5525:0.0:0.4475:0.0	.	94;94	Q68CL5-3;Q68CL5	.;TPGS2_HUMAN	V	94	ENSP00000335144:A94V	ENSP00000335144:A94V	A	-	2	0	C18orf10	32639436	0.975000	0.34042	0.987000	0.45799	0.508000	0.34012	1.522000	0.35921	0.335000	0.23614	0.655000	0.94253	GCA	TPGS2-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000440406.2		-	ENST00000590842.1	Missense_Mutation	SNP	18 : 34385438 - 34385438 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	682	125
ATP6V1B2	526	broad.mit.edu	37	8	20068811	20068811	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:20068811G>A	ENST00000276390.2	+	6	627	c.587G>A	c.(586-588)gGg>gAg	p.G196E		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	196					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		TCTGCTGCTGGGCTACCACAC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(119;1230 1726 3901 4036 31644)							NA				0													103	93	96			NA	NA	8		NA											NA				20068811		2203	4300	6503	SO:0001583	missense			L35249	CCDS6014.1	8p21.3	2010-04-21	2006-01-13	2002-05-10	ENSG00000147416	ENSG00000147416	526	526	3.6.3.14	ATPases / V-type	854	protein-coding gene	gene with protein product		606939	ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide, 56/58kD, isoform 2, ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2	VPP3, ATP6B2	NA	2145275, 14580332	Standard	NM_001693	NM_001693	NA	Approved	VATB, Vma2, HO57	uc003wzp.3	P21281	OTTHUMG00000131073	ENST00000276390.2:c.587G>A	8.37:g.20068811G>A	ENSP00000276390:p.Gly196Glu	NA	B2R5Z3|D3DSQ5|Q14544|Q15859|Q96IR0	37	CCDS6014.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.283492|5.283492	0.95489|0.95489	.|.	.|.	ENSG00000147416|ENSG00000147416	ENST00000276390;ENST00000542368|ENST00000519667	D|.	0.85088|.	-1.94|.	5.65|5.65	5.65|5.65	0.86999|0.86999	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.91219|.	0.7233|.	H|H	0.98701|0.98701	4.305|4.305	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|.	0.94242|.	0.7486|.	10|.	0.87932|.	D|.	0|.	-36.7028|-36.7028	18.6584|18.6584	0.91463|0.91463	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	196|.	P21281|.	VATB2_HUMAN|.	E|X	196;70|185	ENSP00000276390:G196E|.	ENSP00000276390:G196E|.	G|W	+|+	2|3	0|0	ATP6V1B2|ATP6V1B2	20113091|20113091	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.808000|9.808000	0.99193|0.99193	2.822000|2.822000	0.97130|0.97130	0.650000|0.650000	0.86243|0.86243	GGG|TGG	ATP6V1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253732.1		+	ENST00000276390.2	Missense_Mutation	SNP	8 : 20068811 - 20068811 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	311	30
OR14K1	343170	broad.mit.edu	37	1	247902088	247902088	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247902088T>C	ENST00000283225.2	+	1	172	c.172T>C	c.(172-174)Tac>Cac	p.Y58H	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1	NA										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						CATGGCAATGTACTTTTTCCT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	151	152			NA	NA	1		NA											NA				247902088		2159	4266	6425	SO:0001583	missense			BK004377		1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000153230	ENSG00000153230	343170	343170		GPCR / Class A : Olfactory receptors	15025	protein-coding gene	gene with protein product			olfactory receptor, family 5, subfamily AY, member 1	OR5AY1	NA		Standard	NM_001004732	NG_007559	NA	Approved			Q8NGZ2	OTTHUMG00000040211	ENST00000283225.2:c.172T>C	1.37:g.247902088T>C	ENSP00000283225:p.Tyr58His	NA		37		.	.	.	.	.	.	.	.	.	.	T	14.79	2.640972	0.47153	.	.	ENSG00000153230	ENST00000283225	T	0.15487	2.42	3.74	3.74	0.42951	.	0.000000	0.35970	U	0.002880	T	0.25269	0.0614	.	.	.	0.27818	N	0.941887	.	.	.	.	.	.	T	0.05599	-1.0875	7	0.72032	D	0.01	.	11.368	0.49684	0.0:0.0:0.0:1.0	.	.	.	.	H	58	ENSP00000283225:Y58H	ENSP00000283225:Y58H	Y	+	1	0	OR14K1	245968711	1.000000	0.71417	0.995000	0.50966	0.248000	0.25809	4.229000	0.58625	1.525000	0.49052	0.496000	0.49642	TAC	OR14K1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000096868.1		+	ENST00000283225.2	Missense_Mutation	SNP	1 : 247902088 - 247902088 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	484	118
P2RY1	5028	broad.mit.edu	37	3	152554367	152554367	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:152554367C>A	ENST00000305097.3	+	1	1632	c.796C>A	c.(796-798)Ctg>Atg	p.L266M		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	266					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AATCATTGTACTGACTGTTTT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	112	112			NA	NA	3		NA											NA				152554367		2203	4300	6503	SO:0001583	missense			U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860	5028	5028		Purinergic receptors, GPCR / Class A : Purinergic receptors, P2Y	8539	protein-coding gene	gene with protein product		601167			NA	8579591	Standard	NM_002563	NM_002563	NA	Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.796C>A	3.37:g.152554367C>A	ENSP00000304767:p.Leu266Met	NA		37	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967582	0.34754	.	.	ENSG00000169860	ENST00000305097	T	0.37915	1.17	5.58	3.8	0.43715	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	T	0.48295	0.1492	L	0.49778	1.585	0.50039	D	0.999849	D	0.76494	0.999	D	0.91635	0.999	T	0.35525	-0.9785	10	0.37606	T	0.19	.	7.3074	0.26455	0.0:0.6641:0.0:0.3359	.	266	P47900	P2RY1_HUMAN	M	266	ENSP00000304767:L266M	ENSP00000304767:L266M	L	+	1	2	P2RY1	154037057	1.000000	0.71417	0.378000	0.26068	0.476000	0.33039	3.828000	0.55753	0.725000	0.32318	-0.253000	0.11424	CTG	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356943.1		+	ENST00000305097.3	Missense_Mutation	SNP	3 : 152554367 - 152554367 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	451	86
KIF1A	547	broad.mit.edu	37	2	241656817	241656817	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241656817C>A	ENST00000320389.7	-	47	5195	c.5037G>T	c.(5035-5037)aaG>aaT	p.K1679N	KIF1A_ENST00000498729.2_Missense_Mutation_p.K1780N	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1679					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TTCTGGAGAGCTTGGACCTGC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	71	67			NA	NA	2		NA											NA				241656817		2085	4207	6292	SO:0001583	missense			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294	547	547		Kinesins, Pleckstrin homology (PH) domain containing	888	protein-coding gene	gene with protein product		601255	axonal transport of synaptic vesicles, chromosome 2 open reading frame 20, spastic paraplegia 30 (autosomal recessive)	ATSV, C2orf20, SPG30	NA	7539720, 10323250, 22258533	Standard	NM_138483	NM_001244008	NA	Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.5037G>T	2.37:g.241656817C>A	ENSP00000322791:p.Lys1679Asn	NA	O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	37	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086776	0.76642	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308	T;T	0.75154	-0.83;-0.91	4.47	3.57	0.40892	.	0.114821	0.56097	U	0.000025	D	0.82806	0.5117	M	0.70275	2.135	0.47214	D	0.999357	D;D	0.76494	0.984;0.999	P;D	0.78314	0.844;0.991	D	0.84048	0.0368	10	0.87932	D	0	.	9.8734	0.41189	0.0:0.8329:0.0:0.1671	.	1780;1679	F5H045;Q12756	.;KIF1A_HUMAN	N	1679;1780;1788	ENSP00000322791:K1679N;ENSP00000438388:K1780N	ENSP00000322791:K1679N	K	-	3	2	KIF1A	241305490	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.958000	0.40402	2.189000	0.69895	0.563000	0.77884	AAG	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324536.3		-	ENST00000320389.7	Missense_Mutation	SNP	2 : 241656817 - 241656817 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	576	121
APC2	10297	broad.mit.edu	37	19	1467872	1467872	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1467872G>A	ENST00000535453.1	+	14	6285	c.4572G>A	c.(4570-4572)acG>acA	p.T1524T	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Silent_p.T1524T|APC2_ENST00000238483.4_Silent_p.T1250T			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	1524	5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.|Interaction with CTNNB1.|Pro-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCGCCCACGCCAACCCACC	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													5	7	7			NA	NA	19		NA											NA				1467872		1924	3898	5822	SO:0001819	synonymous_variant				CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266	10297	10297		Armadillo repeat containing	24036	protein-coding gene	gene with protein product	adenomatous polyposis coli like	612034			NA	9823329, 10021369	Standard	NM_005883	XM_005259475	NA	Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.4572G>A	19.37:g.1467872G>A		NA	Q05BW4|Q9UBZ1|Q9UEM8|Q9UQJ8|Q9UQJ9|Q9Y632	37	CCDS12068.1																																																																																			APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449539.2		+	ENST00000535453.1	Silent	SNP	19 : 1467872 - 1467872 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	125	24
SPTA1	6708	broad.mit.edu	37	1	158617374	158617374	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158617374C>T	ENST00000368147.4	-	27	4031	c.3851G>A	c.(3850-3852)aGc>aAc	p.S1284N		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	NA					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCATTTAGGCTCTCCTTACG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	134	134			NA	NA	1		NA											NA				158617374		1982	4142	6124	SO:0001583	missense			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554	6708	6708		EF-hand domain containing	11272	protein-coding gene	gene with protein product	elliptocytosis 2	182860	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		NA		Standard	NM_003126	NM_003126	NA	Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3851G>A	1.37:g.158617374C>T	ENSP00000357129:p.Ser1284Asn	NA	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	7.694	0.691624	0.15039	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.49432	0.78;0.78	4.43	-0.0524	0.13822	.	.	.	.	.	T	0.10594	0.0259	N	0.20766	0.605	0.26862	N	0.967922	B	0.02656	0.0	B	0.04013	0.001	T	0.36986	-0.9725	9	0.17832	T	0.49	.	7.9629	0.30081	0.0:0.3016:0.0:0.6984	.	1284	P02549	SPTA1_HUMAN	N	1284	ENSP00000357130:S1284N;ENSP00000357129:S1284N	ENSP00000357129:S1284N	S	-	2	0	SPTA1	156883998	1.000000	0.71417	0.059000	0.19551	0.247000	0.25773	1.080000	0.30779	-0.089000	0.12484	-0.244000	0.11960	AGC	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051851.3		-	ENST00000368147.4	Missense_Mutation	SNP	1 : 158617374 - 158617374 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	716	86
PHF21B	112885	broad.mit.edu	37	22	45309858	45309858	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45309858G>A	ENST00000313237.5	-	5	825	c.675C>T	c.(673-675)ctC>ctT	p.L225L	PHF21B_ENST00000447824.3_Intron|PHF21B_ENST00000404079.2_Intron|PHF21B_ENST00000396103.3_Intron|PHF21B_ENST00000403565.1_Intron	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	225							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		AGATGCCATggaggggtgaag	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	57	57			NA	NA	22		NA											NA				45309858		2202	4300	6502	SO:0001819	synonymous_variant			AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487	112885	112885		Zinc fingers, PHD-type	25161	protein-coding gene	gene with protein product			PHD finger protein 4	PHF4	NA	12477932	Standard	NM_138415	NM_138415	NA	Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.675C>T	22.37:g.45309858G>A		NA	B0QYW3|B0QYW4|B3KRU4|Q5TFL2|Q6ICC0	37	CCDS14061.1																																																																																			PHF21B-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321731.2		-	ENST00000313237.5	Silent	SNP	22 : 45309858 - 45309858 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	532	107
AARS2	57505	broad.mit.edu	37	6	44279892	44279892	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44279892G>T	ENST00000244571.4	-	2	354	c.352C>A	c.(352-354)Ctg>Atg	p.L118M	RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	118					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	ACATCTTCCAGGTCGTTATGG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													180	141	154			NA	NA	6		NA											NA				44279892		2203	4300	6503	SO:0001583	missense			AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	57505	57505	6.1.1.7	Aminoacyl tRNA synthetases / Class II	21022	protein-coding gene	gene with protein product	alanine tRNA ligase 2, mitochondrial	612035	alanyl-tRNA synthetase like, alanyl-tRNA synthetase 2, mitochondrial (putative)	AARSL	NA	15779907, 21549344	Standard	NM_020745	NM_020745	NA	Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.352C>A	6.37:g.44279892G>T	ENSP00000244571:p.Leu118Met	NA	A2RRN5|Q8N198|Q96D02|Q9ULF0	37	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630469	0.67015	.	.	ENSG00000124608	ENST00000244571	D	0.87966	-2.32	4.9	3.07	0.35406	Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.000000	0.64402	D	0.000003	D	0.93625	0.7964	H	0.95365	3.66	0.53005	D	0.999965	D	0.89917	1.0	D	0.97110	1.0	D	0.94091	0.7353	10	0.87932	D	0	-13.8404	10.0341	0.42118	0.2216:0.0:0.7784:0.0	.	118	Q5JTZ9	SYAM_HUMAN	M	118	ENSP00000244571:L118M	ENSP00000244571:L118M	L	-	1	2	AARS2	44387870	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	2.275000	0.43399	1.279000	0.44446	0.436000	0.28706	CTG	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040741.2		-	ENST00000244571.4	Missense_Mutation	SNP	6 : 44279892 - 44279892 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	714	125
PLOD3	8985	broad.mit.edu	37	7	100859508	100859508	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100859508G>A	ENST00000223127.3	-	4	836	c.438C>T	c.(436-438)ccC>ccT	p.P146P		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	146					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	GCCCCCACTCGGGCCAGCAGA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	25	25			NA	NA	7		NA											NA				100859508		2203	4300	6503	SO:0001819	synonymous_variant			AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	8985	8985	1.14.11.4		9083	protein-coding gene	gene with protein product	lysyl hydroxlase 3	603066			NA	9724729, 9582318	Standard		NM_001084	NA	Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.438C>T	7.37:g.100859508G>A		NA	B2R6W6|Q540C3	37	CCDS5715.1																																																																																			PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347470.1		-	ENST00000223127.3	Silent	SNP	7 : 100859508 - 100859508 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	312	65
SPATA5	166378	broad.mit.edu	37	4	123855775	123855775	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123855775G>T	ENST00000422835.2	+	0	1071				SPATA5_ENST00000274008.4_Missense_Mutation_p.E343D			Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	NA					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						ATTCAAAAGAGCAAGACAACC	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	40	40			NA	NA	4		NA											NA				123855775		2202	4300	6502	SO:0001624	3_prime_UTR_variant			AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375	166378	166378		ATPases / AAA-type	18119	protein-coding gene	gene with protein product	ATPase family gene 2 homolog (S. cerevisiae)	613940			NA	16465403	Standard	NM_145207	NM_145207	NA	Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000422835.2:c.*1068G>T	4.37:g.123855775G>T		NA	C9JT97|Q86XW1|Q8NI20|Q8TDL7	37		.	.	.	.	.	.	.	.	.	.	G	8.890	0.953680	0.18431	.	.	ENSG00000145375	ENST00000274008	D	0.94650	-3.48	4.87	-3.9	0.04181	.	0.467168	0.23496	N	0.047549	D	0.83963	0.5368	L	0.28400	0.85	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.71213	-0.4659	10	0.20519	T	0.43	-7.0171	0.6953	0.00898	0.3374:0.277:0.1866:0.1991	.	343;343	Q8NB90;Q8NB90-3	SPAT5_HUMAN;.	D	343	ENSP00000274008:E343D	ENSP00000274008:E343D	E	+	3	2	SPATA5	124075225	0.842000	0.29525	0.004000	0.12327	0.944000	0.59088	0.034000	0.13776	-1.054000	0.03214	0.655000	0.94253	GAG	SPATA5-002	KNOWN	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000363996.2		+	ENST00000422835.2	3'UTR	SNP	4 : 123855775 - 123855775 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	214	56
HSD3B1	3283	broad.mit.edu	37	1	120056800	120056800	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120056800C>A	ENST00000369413.3	+	4	799	c.654C>A	c.(652-654)ttC>ttA	p.F218L	HSD3B1_ENST00000235547.6_Missense_Mutation_p.F220L|HSD3B1_ENST00000528909.1_Missense_Mutation_p.F218L			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	218					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	TTGGAAAGTTCTCCACTGTTA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	89	89			NA	NA	1		NA											NA				120056800		2203	4300	6503	SO:0001583	missense			S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	3283	3283	1.1.1.145, 5.3.3.1	Short chain dehydrogenase/reductase superfamily / Extended SDR fold	5217	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 11E, member 1	109715		HSDB3, HSD3B	NA	2779585, 19027726	Standard	NM_000862	NM_000862	NA	Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.654C>A	1.37:g.120056800C>A	ENSP00000358421:p.Phe218Leu	NA	A8K691|Q14545|Q8IV65	37	CCDS903.1	.	.	.	.	.	.	.	.	.	.	C	3.556	-0.090709	0.07053	.	.	ENSG00000203857	ENST00000369413;ENST00000235547;ENST00000528909	D;D;D	0.87650	-2.28;-2.28;-2.28	3.26	0.122	0.14702	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.380111	0.29205	N	0.012833	T	0.70868	0.3273	M	0.75264	2.295	0.09310	N	1	B;P	0.41673	0.257;0.759	B;B	0.40702	0.216;0.338	T	0.63611	-0.6598	10	0.18710	T	0.47	-16.7946	4.638	0.12534	0.0:0.5732:0.1895:0.2373	.	220;218	Q5TDG2;P14060	.;3BHS1_HUMAN	L	218;220;218	ENSP00000358421:F218L;ENSP00000235547:F220L;ENSP00000432268:F218L	ENSP00000235547:F220L	F	+	3	2	HSD3B1	119858323	0.983000	0.35010	0.009000	0.14445	0.271000	0.26615	0.412000	0.21131	0.170000	0.19704	0.313000	0.20887	TTC	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034993.3		+	ENST00000369413.3	Missense_Mutation	SNP	1 : 120056800 - 120056800 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	530	120
KLHL11	55175	broad.mit.edu	37	17	40010534	40010534	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40010534T>C	ENST00000319121.3	-	2	1645	c.1585A>G	c.(1585-1587)Aca>Gca	p.T529A		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	529						extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				CGAGTCTCTGTATCATAGCAA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	85	88			NA	NA	17		NA											NA				40010534		2203	4300	6503	SO:0001583	missense				CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502	55175	55175		Kelch-like, BTB/POZ domain containing	19008	protein-coding gene	gene with protein product			kelch-like 11 (Drosophila)		NA		Standard	NM_018143	NM_018143	NA	Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.1585A>G	17.37:g.40010534T>C	ENSP00000314608:p.Thr529Ala	NA		37	CCDS11411.1	.	.	.	.	.	.	.	.	.	.	T	0.323	-0.961002	0.02249	.	.	ENSG00000178502	ENST00000319121;ENST00000540254	T	0.66638	-0.22	5.26	4.18	0.49190	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.51822	0.1697	L	0.29908	0.895	0.45946	D	0.998776	B	0.15473	0.013	B	0.12156	0.007	T	0.44757	-0.9307	10	0.40728	T	0.16	-0.0634	9.0051	0.36106	0.0:0.2059:0.0:0.7941	.	529	Q9NVR0	KLH11_HUMAN	A	529;392	ENSP00000314608:T529A	ENSP00000314608:T529A	T	-	1	0	KLHL11	37264060	1.000000	0.71417	0.977000	0.42913	0.998000	0.95712	3.133000	0.50531	0.942000	0.37525	0.477000	0.44152	ACA	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257464.2		-	ENST00000319121.3	Missense_Mutation	SNP	17 : 40010534 - 40010534 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	513	102
SMYD2	56950	broad.mit.edu	37	1	214500997	214500997	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214500997A>C	ENST00000366957.5	+	7	657	c.635A>C	c.(634-636)aAt>aCt	p.N212T	SMYD2_ENST00000415093.2_Missense_Mutation_p.N212T|SMYD2_ENST00000491455.1_3'UTR	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	212	SET.				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		TGTTGCCCCAATGTCATTGTG	0.473		NA									OREG0004276	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	138	140			NA	NA	1		NA											NA				214500997		2203	4300	6503	SO:0001583	missense			AF226053	CCDS31022.1	1q32.3	2011-07-01			ENSG00000143499	ENSG00000143499	56950	56950		Zinc fingers, MYND-type, Chromatin-modifying enzymes / K-methyltransferases	20982	protein-coding gene	gene with protein product		610663			NA		Standard	NM_020197	NM_020197	NA	Approved	HSKM-B, ZMYND14, KMT3C	uc021pix.1	Q9NRG4	OTTHUMG00000037066	ENST00000366957.5:c.635A>C	1.37:g.214500997A>C	ENSP00000355924:p.Asn212Thr	2221	B2R9P9|Q4V765|Q5VSH9|Q96AI4	37	CCDS31022.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.927365	0.52759	.	.	ENSG00000143499	ENST00000366957;ENST00000415093	D;D	0.90676	-2.71;-2.71	5.84	4.71	0.59529	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.93504	0.7927	M	0.76328	2.33	0.58432	D	0.999998	P;D	0.59357	0.883;0.985	P;P	0.58970	0.718;0.849	D	0.93210	0.6599	10	0.62326	D	0.03	-3.1334	11.9764	0.53094	0.932:0.0:0.068:0.0	.	212;196	Q9NRG4;Q05C86	SMYD2_HUMAN;.	T	212	ENSP00000355924:N212T;ENSP00000388682:N212T	ENSP00000355924:N212T	N	+	2	0	SMYD2	212567620	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.838000	0.75359	1.027000	0.39758	0.533000	0.62120	AAT	SMYD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089998.1		+	ENST00000366957.5	Missense_Mutation	SNP	1 : 214500997 - 214500997 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	617	99
RP1L1	94137	broad.mit.edu	37	8	10465626	10465626	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10465626C>A	ENST00000382483.3	-	4	6205	c.5982G>T	c.(5980-5982)caG>caT	p.Q1994H		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1994					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)		CTGACTCTGGCTGGGCCTCCC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													173	189	184			NA	NA	8		NA											NA				10465626		1981	4157	6138	SO:0001583	missense			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.5982G>T	8.37:g.10465626C>A	ENSP00000371923:p.Gln1994His	NA		37	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	7.483	0.649002	0.14516	.	.	ENSG00000183638	ENST00000382483	T	0.04970	3.52	1.24	1.24	0.21308	.	.	.	.	.	T	0.05090	0.0136	N	0.08118	0	0.09310	N	1	P	0.50156	0.932	P	0.50570	0.644	T	0.38134	-0.9675	9	0.56958	D	0.05	.	5.0404	0.14456	0.0:0.7812:0.0:0.2188	.	1994	A6NKC6	.	H	1994	ENSP00000371923:Q1994H	ENSP00000371923:Q1994H	Q	-	3	2	RP1L1	10503036	0.059000	0.20769	0.136000	0.22124	0.274000	0.26718	0.878000	0.28126	0.535000	0.28714	0.305000	0.20034	CAG	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375673.1		-	ENST00000382483.3	Missense_Mutation	SNP	8 : 10465626 - 10465626 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2077	379
LPHN3	23284	broad.mit.edu	37	4	62599163	62599163	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:62599163G>A	ENST00000512091.2	+	7	1833	c.1086G>A	c.(1084-1086)caG>caA	p.Q362Q	LPHN3_ENST00000506700.1_Silent_p.Q362Q|LPHN3_ENST00000511324.1_Silent_p.Q430Q|LPHN3_ENST00000504896.1_Silent_p.Q362Q|LPHN3_ENST00000514157.1_Silent_p.Q362Q|LPHN3_ENST00000507625.1_Silent_p.Q430Q|LPHN3_ENST00000514591.1_Silent_p.Q362Q|LPHN3_ENST00000507164.1_Silent_p.Q430Q|LPHN3_ENST00000508693.1_Silent_p.Q430Q|LPHN3_ENST00000514996.1_Silent_p.Q362Q|LPHN3_ENST00000506720.1_Silent_p.Q430Q|LPHN3_ENST00000545650.1_Silent_p.Q362Q|LPHN3_ENST00000506746.1_Silent_p.Q430Q|LPHN3_ENST00000508946.1_Silent_p.Q362Q|LPHN3_ENST00000509896.1_Silent_p.Q430Q			Q9HAR2	LPHN3_HUMAN	latrophilin 3	NA	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATTCATACCAGTACATTGCAG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	92	96			NA	NA	4		NA											NA				62599163		1921	4131	6052	SO:0001819	synonymous_variant			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471	23284	23284		-, GPCR / Class B : Orphans	20974	protein-coding gene	gene with protein product					NA	10994649	Standard		NM_015236	NA	Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000512091.2:c.1086G>A	4.37:g.62599163G>A		NA	O94867|Q9NWK5	37																																																																																				LPHN3-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000361763.2		+	ENST00000512091.2	Silent	SNP	4 : 62599163 - 62599163 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	179	28
ZBTB41	360023	broad.mit.edu	37	1	197168633	197168633	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197168633C>T	ENST00000367405.4	-	1	1039	c.971G>A	c.(970-972)aGt>aAt	p.S324N	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						ATCCTTTTCACTTTGTTCTTC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	131	133			NA	NA	1		NA											NA				197168633		2202	4300	6502	SO:0001583	missense				CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888	360023	360023		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	24819	protein-coding gene	gene with protein product					NA		Standard	NM_194314	NM_194314	NA	Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.971G>A	1.37:g.197168633C>T	ENSP00000356375:p.Ser324Asn	NA	A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	37	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889621	0.52014	.	.	ENSG00000177888	ENST00000367405	T	0.05925	3.37	4.33	4.33	0.51752	.	0.000000	0.47093	U	0.000248	T	0.06096	0.0158	N	0.24115	0.695	0.36069	D	0.84197	P	0.47409	0.895	B	0.41332	0.354	T	0.48885	-0.8995	10	0.32370	T	0.25	.	16.9144	0.86148	0.0:1.0:0.0:0.0	.	324	Q5SVQ8	ZBT41_HUMAN	N	324	ENSP00000356375:S324N	ENSP00000356375:S324N	S	-	2	0	ZBTB41	195435256	0.998000	0.40836	0.960000	0.40013	0.873000	0.50193	2.775000	0.47702	1.947000	0.56498	0.298000	0.19748	AGT	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088249.2		-	ENST00000367405.4	Missense_Mutation	SNP	1 : 197168633 - 197168633 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	615	103
PSMG2	56984	broad.mit.edu	37	18	12686292	12686292	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12686292C>T	ENST00000589405.1	+	0	130				PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000423709.2_Missense_Mutation_p.C289Y|CEP76_ENST00000262127.2_Missense_Mutation_p.C364Y			Q969U7	PSMG2_HUMAN	proteasome (prosome, macropain) assembly chaperone 2	NA					proteasome assembly	nucleus	protein binding			lung(1)|prostate(2)|skin(1)	4						CAGCAGAGTGCACCACTGCTC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	86	88			NA	NA	18		NA											NA				12686292		2203	4300	6503	SO:0001624	3_prime_UTR_variant			AF276707	CCDS11862.1, CCDS67440.1	18p11.21	2012-01-25	2007-10-23	2007-10-23	ENSG00000128789	ENSG00000128789	56984	56984			24929	protein-coding gene	gene with protein product	hepatocellular carcinoma susceptibility protein, CD40 ligand-activated specific transcript 3	609702	tumor necrosis factor superfamily, member 5-induced protein 1	TNFSF5IP1	NA	11854909, 12147697, 17189198	Standard	NM_020232	NM_147163	NA	Approved	HCCA3, MDS003, MGC15092, CLAST3, HsT1707, PAC2	uc002krk.3	Q969U7	OTTHUMG00000131703	ENST00000589405.1:c.*127C>T	18.37:g.12686292C>T		NA	B0YJB3|Q6IAH4	37		.	.	.	.	.	.	.	.	.	.	C	13.75	2.329103	0.41197	.	.	ENSG00000101624	ENST00000262127;ENST00000423709	T;T	0.80304	-1.36;-1.34	5.74	5.74	0.90152	.	0.086622	0.85682	D	0.000000	T	0.79941	0.4533	M	0.61703	1.905	0.58432	D	0.999999	P;P;P	0.47302	0.893;0.63;0.456	P;B;B	0.45310	0.476;0.142;0.188	T	0.76672	-0.2873	10	0.02654	T	1	-9.2993	19.9135	0.97033	0.0:1.0:0.0:0.0	.	289;364;186	Q8TAP6-2;Q8TAP6;Q8TAP6-3	.;CEP76_HUMAN;.	Y	364;289	ENSP00000262127:C364Y;ENSP00000403074:C289Y	ENSP00000262127:C364Y	C	-	2	0	CEP76	12676292	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.006000	0.70724	2.711000	0.92665	0.591000	0.81541	TGC	PSMG2-005	KNOWN	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000453186.1		+	ENST00000589405.1	3'UTR	SNP	18 : 12686292 - 12686292 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	59
SH3PXD2A	9644	broad.mit.edu	37	10	105372695	105372695	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105372695G>A	ENST00000369774.4	-	12	1449	c.1173C>T	c.(1171-1173)gcC>gcT	p.A391A	SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Silent_p.A226A|SH3PXD2A_ENST00000355946.2_Silent_p.A363A|SH3PXD2A_ENST00000540321.1_Silent_p.A258A|SH3PXD2A_ENST00000427662.2_Silent_p.A253A			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	391					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GAACGCCCACGGCACTGCCAT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	48	49			NA	NA	10		NA											NA				105372695		2203	4300	6503	SO:0001819	synonymous_variant			AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957	9644	9644			23664	protein-coding gene	gene with protein product	five SH3 domains		SH3 multiple domains 1	SH3MD1	NA	9687503	Standard	NM_014631	XM_005270297	NA	Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.1173C>T	10.37:g.105372695G>A		NA	D3DR98|O43302|Q5TCZ2|Q5TDQ8	37		.	.	.	.	.	.	.	.	.	.	G	0.128	-1.116878	0.01799	.	.	ENSG00000107957	ENST00000420222	.	.	.	5.67	-4.99	0.03010	.	.	.	.	.	T	0.35799	0.0944	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37888	-0.9686	4	.	.	.	-23.192	1.2954	0.02068	0.3276:0.1575:0.3404:0.1745	.	.	.	.	C	318	.	.	R	-	1	0	SH3PXD2A	105362685	0.015000	0.18098	0.389000	0.26208	0.029000	0.11900	-0.088000	0.11198	-0.711000	0.04995	-2.189000	0.00312	CGT	SH3PXD2A-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000050178.1		-	ENST00000369774.4	Silent	SNP	10 : 105372695 - 105372695 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	335	14
PCDHB5	26167	broad.mit.edu	37	5	140517233	140517233	+	Silent	SNP	C	C	T	rs150150212		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140517233C>T	ENST00000231134.5	+	1	2434	c.2217C>T	c.(2215-2217)agC>agT	p.S739S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	739					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGACGTGAGCGGCACCGGGA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	88	107	101		2217	0	0.1	5	dbSNP_134	101	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PCDHB5	NM_015669.2		0,2,6501	TT,TC,CC	NA	0.0233,0.0,0.0154		739/796	140517233	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209	26167	26167		Cadherins / Protocadherins : Clustered	8690	other	protocadherin		606331			NA	10380929	Standard	NM_015669	NM_015669	NA	Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.2217C>T	5.37:g.140517233C>T		NA	Q549F4|Q9UFU9	37	CCDS4247.1																																																																																			PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251811.1		+	ENST00000231134.5	Silent	SNP	5 : 140517233 - 140517233 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1466	231
TRPV3	162514	broad.mit.edu	37	17	3430170	3430170	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3430170C>T	ENST00000301365.4	-	12	1686	c.1555G>A	c.(1555-1557)Gat>Aat	p.D519N	TRPV3_ENST00000576742.1_Missense_Mutation_p.D519N|TRPV3_ENST00000572519.1_Missense_Mutation_p.D519N			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	519						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	AACCAGGCATCCGAGAGGATG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	89	109			NA	NA	17		NA											NA				3430170		2203	4300	6503	SO:0001583	missense			AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723	162514	162514		Voltage-gated ion channels / Transient receptor potential cation channels, Ankyrin repeat domain containing	18084	protein-coding gene	gene with protein product		607066			NA	12016205, 12077606, 16382100	Standard	NM_145068	NM_001258205	NA	Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000301365.4:c.1555G>A	17.37:g.3430170C>T	ENSP00000301365:p.Asp519Asn	NA	Q8NDW7|Q8NET9|Q8NFH2	37	CCDS58500.1	.	.	.	.	.	.	.	.	.	.	c	33	5.217613	0.95104	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	D	0.98717	-5.09	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000002	D	0.98416	0.9473	L	0.33189	0.99	0.44352	D	0.997246	D;P;D;D;D;D;D;D	0.89917	1.0;0.607;0.975;1.0;0.975;0.996;0.999;0.998	D;B;P;D;D;D;D;D	0.91635	0.998;0.12;0.893;0.999;0.919;0.993;0.997;0.995	D	0.99914	1.1215	10	0.72032	D	0.01	-9.1066	17.5751	0.87946	0.0:1.0:0.0:0.0	.	101;503;503;519;503;519;519;519	B4E3L1;E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;.;TRPV3_HUMAN;.	N	519;519;503	ENSP00000301365:D519N	ENSP00000301365:D519N	D	-	1	0	TRPV3	3376920	0.999000	0.42202	0.950000	0.38849	0.968000	0.65278	5.187000	0.65087	2.482000	0.83794	0.638000	0.83543	GAT	TRPV3-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438245.1		-	ENST00000301365.4	Missense_Mutation	SNP	17 : 3430170 - 3430170 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	105	25
NDOR1	27158	broad.mit.edu	37	9	140110839	140110839	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140110839C>T	ENST00000371521.4	+	14	1875	c.1792C>T	c.(1792-1794)Cgg>Tgg	p.R598W	NDOR1_ENST00000344894.5_Missense_Mutation_p.R589W|NDOR1_ENST00000458322.2_Missense_Mutation_p.R582W|NDOR1_ENST00000427047.2_3'UTR	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	589					cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CCAGCAGACACGGCGCTTCCA	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	39	38			NA	NA	9		NA											NA				140110839		2203	4299	6502	SO:0001583	missense			BC015735	CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1	9q34.3	2008-02-05			ENSG00000188566	ENSG00000188566	27158	27158			29838	protein-coding gene	gene with protein product	NADPH dependent FMN and FAD containing oxidoreductase	606073			NA	10625700, 12631275	Standard	NM_014434	XM_005266066	NA	Approved	NR1, bA350O14.9	uc004clx.3	Q9UHB4	OTTHUMG00000020986	ENST00000371521.4:c.1792C>T	9.37:g.140110839C>T	ENSP00000360576:p.Arg598Trp	NA	Q5VSG4|Q86US9|Q96BC6	37	CCDS48061.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.662550	0.29515	.	.	ENSG00000188566	ENST00000458322;ENST00000371521;ENST00000344894	T;T;T	0.78924	-1.22;-1.22;-1.22	3.93	-0.989	0.10242	.	0.777035	0.11604	N	0.547504	D	0.82518	0.5054	M	0.85945	2.785	0.09310	N	1	D;D;D	0.69078	0.995;0.997;0.989	P;P;P	0.54924	0.586;0.764;0.586	T	0.72107	-0.4390	10	0.72032	D	0.01	-4.7404	6.1079	0.20084	0.4665:0.4318:0.0:0.1017	.	582;598;589	D3YTG6;Q9UHB4-2;Q9UHB4	.;.;NDOR1_HUMAN	W	582;598;589	ENSP00000389905:R582W;ENSP00000360576:R598W;ENSP00000343344:R589W	ENSP00000343344:R589W	R	+	1	2	NDOR1	139230660	0.000000	0.05858	0.006000	0.13384	0.035000	0.12851	-0.438000	0.06905	-0.003000	0.14444	0.561000	0.74099	CGG	NDOR1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055326.2		+	ENST00000371521.4	Missense_Mutation	SNP	9 : 140110839 - 140110839 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	298	46
UBE4B	10277	broad.mit.edu	37	1	10239537	10239537	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10239537G>A	ENST00000343090.6	+	27	3839	c.3764G>A	c.(3763-3765)cGc>cAc	p.R1255H	UBE4B_ENST00000377157.3_Missense_Mutation_p.R1014H|UBE4B_ENST00000253251.8_Missense_Mutation_p.R1126H	NM_001105562.2	NP_001099032.1	O95155	UBE4B_HUMAN	ubiquitination factor E4B	1255	U-box.				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	p.R1126H(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		ATCATGGACCGCTCCATCATC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											80	82	81			NA	NA	1		NA											NA				10239537		2203	4300	6503	SO:0001583	missense			AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939	10277	10277		U-box domain containing	12500	protein-coding gene	gene with protein product		613565	ubiquitination factor E4B (homologous to yeast UFD2), ubiquitination factor E4B (UFD2 homolog, yeast)		NA	9734811, 10089879	Standard	NM_006048	NM_006048	NA	Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000343090.6:c.3764G>A	1.37:g.10239537G>A	ENSP00000343001:p.Arg1255His	NA	O75169|O95338|Q5SZ12|Q5SZ16|Q96QD4|Q9BYI7	37	CCDS41245.1	.	.	.	.	.	.	.	.	.	.	G	37	6.084238	0.97267	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.71222	-0.55;-0.45;-0.5	5.78	5.78	0.91487	Zinc finger, RING/FYVE/PHD-type (1);U box domain (2);	0.000000	0.85682	D	0.000000	D	0.91209	0.7230	H	0.98370	4.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.989;0.998	D	0.94035	0.7304	10	0.87932	D	0	-18.2393	19.9987	0.97401	0.0:0.0:1.0:0.0	.	1255;1126	O95155;O95155-2	UBE4B_HUMAN;.	H	1126;1014;1255	ENSP00000253251:R1126H;ENSP00000366362:R1014H;ENSP00000343001:R1255H	ENSP00000253251:R1126H	R	+	2	0	UBE4B	10162124	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.819000	0.99357	2.738000	0.93877	0.591000	0.81541	CGC	UBE4B-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005016.1		+	ENST00000343090.6	Missense_Mutation	SNP	1 : 10239537 - 10239537 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	644	73
USH2A	7399	broad.mit.edu	37	1	216258214	216258214	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216258214T>G	ENST00000307340.3	-	25	5379	c.4993A>C	c.(4993-4995)Atc>Ctc	p.I1665L	USH2A_ENST00000366943.2_Missense_Mutation_p.I1665L|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1665	Laminin G-like 1.		I -> T (in dbSNP:rs56222536).		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCTTTTTGGATTATCTCTGCA	0.333		NA								HNSCC(13;0.011)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	64	64			NA	NA	1		NA											NA				216258214		2201	4300	6501	SO:0001583	missense			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781	7399	7399		Fibronectin type III domain containing	12601	protein-coding gene	gene with protein product	usherin	608400		USH2	NA	9624053, 10729113	Standard	NM_007123	NM_007123	NA	Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4993A>C	1.37:g.216258214T>G	ENSP00000305941:p.Ile1665Leu	NA	Q5VVM9|Q6S362|Q9NS27	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	12.70	2.015583	0.35511	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.78707	-1.2;-1.2	4.93	-2.28	0.06826	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.479810	0.17138	N	0.185577	T	0.57799	0.2078	N	0.21097	0.63	0.20764	N	0.999851	B	0.06786	0.001	B	0.10450	0.005	T	0.41680	-0.9495	10	0.32370	T	0.25	.	7.1839	0.25789	0.0:0.3409:0.114:0.5451	.	1665	O75445	USH2A_HUMAN	L	1665	ENSP00000305941:I1665L;ENSP00000355910:I1665L	ENSP00000305941:I1665L	I	-	1	0	USH2A	214324837	0.817000	0.29147	0.322000	0.25334	0.952000	0.60782	0.189000	0.17037	-0.335000	0.08451	0.529000	0.55759	ATC	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128138.1		-	ENST00000307340.3	Missense_Mutation	SNP	1 : 216258214 - 216258214 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	454	120
MICAL3	57553	broad.mit.edu	37	22	18387407	18387407	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18387407C>T	ENST00000441493.2	-	3	815	c.463G>A	c.(463-465)Gac>Aac	p.D155N	MICAL3_ENST00000400561.2_Missense_Mutation_p.D155N|MICAL3_ENST00000207726.7_Missense_Mutation_p.D155N|MICAL3_ENST00000414725.2_Missense_Mutation_p.D155N|MICAL3_ENST00000383094.3_Missense_Mutation_p.D155N|MICAL3_ENST00000444520.1_Missense_Mutation_p.D155N|MICAL3_ENST00000585038.1_Missense_Mutation_p.D155N|MICAL3_ENST00000429452.1_Missense_Mutation_p.D155N	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	155						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTGATATGGTCGATGGCTCCA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													208	188	194			NA	NA	22		NA											NA				18387407		1568	3582	5150	SO:0001583	missense			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156	57553	57553			24694	protein-coding gene	gene with protein product		608882			NA	12110185	Standard		NM_015241	NA	Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.463G>A	22.37:g.18387407C>T	ENSP00000416015:p.Asp155Asn	NA	E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	37	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	C	36	5.808007	0.96967	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T;T	0.08008	3.14;3.14;3.14;3.14;3.14;3.14;3.14	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.30417	0.0764	M	0.68593	2.085	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.989;1.0;0.999	D;D;P;D;D	0.91635	0.999;0.962;0.753;0.994;0.973	T	0.00529	-1.1687	10	0.66056	D	0.02	.	19.6914	0.96002	0.0:1.0:0.0:0.0	.	155;155;155;155;155	B4DJ91;B2RXJ5;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;.;MICA3_HUMAN	N	155	ENSP00000416015:D155N;ENSP00000414846:D155N;ENSP00000383406:D155N;ENSP00000410315:D155N;ENSP00000391827:D155N;ENSP00000372574:D155N;ENSP00000207726:D155N	ENSP00000207726:D155N	D	-	1	0	XXbac-B461K10.4;MICAL3	16767407	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	7.818000	0.86416	2.644000	0.89710	0.563000	0.77884	GAC	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447351.1		-	ENST00000441493.2	Missense_Mutation	SNP	22 : 18387407 - 18387407 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	829	146
STAM	8027	broad.mit.edu	37	10	17747711	17747711	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17747711A>G	ENST00000377524.3	+	12	1395	c.1180A>G	c.(1180-1182)Atg>Gtg	p.M394V	STAM_ENST00000540523.1_Missense_Mutation_p.M283V	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	394					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						GCCATATTATATGCAGTCATC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	158	159			NA	NA	10		NA											NA				17747711		2203	4300	6503	SO:0001583	missense			U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738	8027	8027			11357	protein-coding gene	gene with protein product	HSE1 homolog (S. cerevisiae)	601899			NA	8780729	Standard	NM_003473	NM_003473	NA	Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.1180A>G	10.37:g.17747711A>G	ENSP00000366746:p.Met394Val	NA	B0YJ99|D3DRU5|Q8N6D9	37	CCDS7122.1	.	.	.	.	.	.	.	.	.	.	A	4.536	0.099491	0.08681	.	.	ENSG00000136738	ENST00000377524;ENST00000540523	T;T	0.38560	1.44;1.13	5.73	0.684	0.18003	.	0.190228	0.64402	N	0.000004	T	0.31136	0.0787	L	0.56769	1.78	0.43593	D	0.995943	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.08764	-1.0706	10	0.17832	T	0.49	-0.7655	5.9925	0.19474	0.664:0.1263:0.2097:0.0	.	283;394	B4DZT2;Q92783	.;STAM1_HUMAN	V	394;283	ENSP00000366746:M394V;ENSP00000438073:M283V	ENSP00000366746:M394V	M	+	1	0	STAM	17787717	0.988000	0.35896	0.958000	0.39756	0.898000	0.52572	2.453000	0.44970	-0.115000	0.11915	0.533000	0.62120	ATG	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047039.1		+	ENST00000377524.3	Missense_Mutation	SNP	10 : 17747711 - 17747711 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	818	139
EHMT2	10919	broad.mit.edu	37	6	31860299	31860299	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31860299G>A	ENST00000395728.3	-	6	919	c.920C>T	c.(919-921)aCc>aTc	p.T307I	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.T307I|EHMT2_ENST00000375530.4_Missense_Mutation_p.T250I|EHMT2_ENST00000375537.4_Missense_Mutation_p.T250I			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	250	Poly-Glu.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TTTCGTCAGGGTCACTTCTCC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	53	55			NA	NA	6		NA											NA				31860299		1510	2709	4219	SO:0001583	missense			AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	10919	10919	2.1.1.43	Chromatin-modifying enzymes / K-methyltransferases, Ankyrin repeat domain containing	14129	protein-coding gene	gene with protein product		604599	chromosome 6 open reading frame 30, HLA-B associated transcript 8	C6orf30, BAT8	NA	8457211, 11316813	Standard	NM_006709	XM_005274833	NA	Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000395728.3:c.920C>T	6.37:g.31860299G>A	ENSP00000379078:p.Thr307Ile	NA	B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	37		.	.	.	.	.	.	.	.	.	.	G	12.22	1.873501	0.33069	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.70282	-0.46;-0.45;-0.41;-0.47	4.88	3.07	0.35406	.	0.284204	0.25581	N	0.029689	T	0.24431	0.0592	N	0.08118	0	0.26303	N	0.97794	B;B;B;B	0.10296	0.0;0.001;0.0;0.003	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.14868	-1.0457	10	0.32370	T	0.25	.	6.3179	0.21200	0.3064:0.0:0.6936:0.0	.	307;250;250;64	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	I	307;307;250;250;64	ENSP00000379078:T307I;ENSP00000364678:T307I;ENSP00000364680:T250I;ENSP00000364687:T250I	ENSP00000364678:T307I	T	-	2	0	EHMT2	31968278	0.149000	0.22717	1.000000	0.80357	0.835000	0.47333	0.373000	0.20484	0.758000	0.33059	0.591000	0.81541	ACC	EHMT2-008	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000268526.1		-	ENST00000395728.3	Missense_Mutation	SNP	6 : 31860299 - 31860299 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	327	54
OR52N5	390075	broad.mit.edu	37	11	5799696	5799696	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5799696T>C	ENST00000317093.2	-	1	201	c.169A>G	c.(169-171)Att>Gtt	p.I57V	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TCATAATAAATGAGGTACACA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	128	132			NA	NA	11		NA											NA				5799696		2124	4089	6213	SO:0001583	missense			AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009	390075	390075		GPCR / Class A : Olfactory receptors	15231	protein-coding gene	gene with protein product					NA		Standard	NM_001001922	NM_001001922	NA	Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.169A>G	11.37:g.5799696T>C	ENSP00000322866:p.Ile57Val	NA	B9EH12|Q6IFG2	37	CCDS31397.1	.	.	.	.	.	.	.	.	.	.	T	9.317	1.057008	0.19907	.	.	ENSG00000181009	ENST00000317093	T	0.06687	3.27	3.44	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31167	U	0.008127	T	0.09291	0.0229	L	0.53617	1.68	0.23751	N	0.996947	B	0.25719	0.132	B	0.21360	0.034	T	0.15896	-1.0421	10	0.41790	T	0.15	.	11.1721	0.48577	0.0:0.0:0.0:1.0	.	57	Q8NH56	O52N5_HUMAN	V	57	ENSP00000322866:I57V	ENSP00000322866:I57V	I	-	1	0	OR52N5	5756272	0.023000	0.18921	0.225000	0.23894	0.055000	0.15305	0.214000	0.17541	1.570000	0.49709	0.147000	0.16070	ATT	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401141.1		-	ENST00000317093.2	Missense_Mutation	SNP	11 : 5799696 - 5799696 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	734	33
PRR12	57479	broad.mit.edu	37	19	50098142	50098142	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50098142T>C	ENST00000418929.2	+	4	562	c.550T>C	c.(550-552)Tcc>Ccc	p.S184P		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	596	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CGGGCTCCTGTCCCCTCATGA	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	28	27			NA	NA	19		NA											NA				50098142		1964	4142	6106	SO:0001583	missense			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464	57479	57479			29217	protein-coding gene	gene with protein product			KIAA1205	KIAA1205	NA	10574462	Standard	NM_020719	NM_020719	NA	Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.550T>C	19.37:g.50098142T>C	ENSP00000394510:p.Ser184Pro	NA	E9PB06|Q8N4J6	37	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	T	12.34	1.908427	0.33721	.	.	ENSG00000126464	ENST00000418929	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	T	0.77751	0.4177	.	.	.	0.36605	D	0.874868	D	0.76494	0.999	D	0.83275	0.996	D	0.83942	0.0312	7	0.72032	D	0.01	.	12.3339	0.55056	0.0:0.0:0.0:1.0	.	184	Q9ULL5-3	.	P	184	.	ENSP00000394510:S184P	S	+	1	0	PRR12	54789954	0.873000	0.30073	1.000000	0.80357	0.794000	0.44872	1.874000	0.39568	1.827000	0.53221	0.460000	0.39030	TCC	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465915.1		+	ENST00000418929.2	Missense_Mutation	SNP	19 : 50098142 - 50098142 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	106	27
TPH1	7166	broad.mit.edu	37	11	18057690	18057690	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18057690C>A	ENST00000250018.2	-	2	680		c.e2-1		TPH1_ENST00000341556.2_Splice_Site	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	NA					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	CATGCTTCTCCTGTGTAAAGC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	83	85			NA	NA	11		NA											NA				18057690		2200	4293	6493	SO:0001630	splice_region_variant			X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	7166	7166	1.14.16.4		12008	protein-coding gene	gene with protein product	tryptophan 5-monooxygenase	191060	tryptophan hydroxylase (tryptophan 5-monooxygenase)	TPRH, TPH	NA	1463016	Standard	NM_004179	NM_004179	NA	Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.118-1G>T	11.37:g.18057690C>A		NA	D3DQX6|O95188|O95189|Q16736|Q3KPG8	37	CCDS7829.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234470	0.79800	.	.	ENSG00000129167	ENST00000250018;ENST00000341556;ENST00000528338	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3742	0.94502	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TPH1	18014266	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.741000	0.84997	2.650000	0.89964	0.655000	0.94253	.	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389696.1	Intron	-	ENST00000250018.2	Splice_Site	SNP	11 : 18057690 - 18057690 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	134	23
TMEM225	338661	broad.mit.edu	37	11	123754818	123754818	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123754818T>G	ENST00000375026.2	-	3	643	c.427A>C	c.(427-429)Act>Cct	p.T143P		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	143						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						AAGTAAGCAGTATACATGATC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	119	122			NA	NA	11		NA											NA				123754818		2202	4299	6501	SO:0001583	missense			AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300	338661	338661			32390	protein-coding gene	gene with protein product	PMP22 claudin domain containing, protein phosphatase 1, regulatory subunit 154				NA		Standard	NM_001013743	XM_006718832	NA	Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.427A>C	11.37:g.123754818T>G	ENSP00000364166:p.Thr143Pro	NA		37	CCDS31697.1	.	.	.	.	.	.	.	.	.	.	T	13.90	2.375561	0.42105	.	.	ENSG00000204300	ENST00000375026;ENST00000528595	T;T	0.69175	-0.38;-0.38	4.74	-0.839	0.10759	.	0.487163	0.17515	N	0.171460	T	0.62720	0.2451	L	0.29908	0.895	0.09310	N	1	D	0.71674	0.998	D	0.67382	0.951	T	0.52215	-0.8605	10	0.62326	D	0.03	-1.9637	2.6171	0.04907	0.3711:0.2056:0.0:0.4233	.	143	Q6GV28	TM225_HUMAN	P	143;93	ENSP00000364166:T143P;ENSP00000431282:T93P	ENSP00000364166:T143P	T	-	1	0	TMEM225	123260028	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.020000	0.13466	0.004000	0.14682	-0.263000	0.10527	ACT	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387260.1		-	ENST00000375026.2	Missense_Mutation	SNP	11 : 123754818 - 123754818 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	480	95
DGCR6	8214	broad.mit.edu	37	22	18898402	18898402	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18898402C>T	ENST00000331444.6	+	4	526	c.374C>T	c.(373-375)gCg>gTg	p.A125V	DGCR6_ENST00000436645.1_3'UTR|DGCR6_ENST00000413981.1_5'UTR	NM_005675.4	NP_005666.2	Q14129	DGCR6_HUMAN	DiGeorge syndrome critical region gene 6	125					cell adhesion|organ morphogenesis	nucleus|proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1)	3						CCACGGCAGGCGGTGGAGCAC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	29	30			NA	NA	22		NA											NA				18898402		2202	4299	6501	SO:0001630	splice_region_variant			X96484	CCDS13753.1	22q11.21	2008-06-12			ENSG00000183628	ENSG00000183628	8214	8214			2846	protein-coding gene	gene with protein product		601279			NA	8733130	Standard	NM_005675	NM_005675	NA	Approved		uc002zoh.4	Q14129	OTTHUMG00000150162	ENST00000331444.6:c.373-1C>T	22.37:g.18898402C>T		NA	B2RCH5|D3DX15|Q9BY28	37	CCDS13753.1	.	.	.	.	.	.	.	.	.	.	c	15.56	2.870249	0.51588	.	.	ENSG00000183628	ENST00000331444;ENST00000436645	T	0.32988	1.43	4.84	4.84	0.62591	.	0.324157	0.31976	N	0.006774	T	0.33498	0.0865	M	0.67953	2.075	0.46437	D	0.999046	B	0.24368	0.102	B	0.14578	0.011	T	0.11446	-1.0587	10	0.38643	T	0.18	-11.6622	15.7939	0.78394	0.0:1.0:0.0:0.0	.	125	Q14129	DGCR6_HUMAN	V	125;45	ENSP00000331681:A125V	ENSP00000331681:A125V	A	+	2	0	DGCR6	17278402	0.995000	0.38212	0.929000	0.37066	0.011000	0.07611	3.266000	0.51569	2.421000	0.82119	0.430000	0.28490	GCG	DGCR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316631.2	Missense_Mutation	+	ENST00000331444.6	Splice_Site	SNP	22 : 18898402 - 18898402 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	39
CDH11	1009	broad.mit.edu	37	16	64981786	64981786	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:64981786G>T	ENST00000268603.4	-	13	2726	c.2111C>A	c.(2110-2112)cCt>cAt	p.P704H	CDH11_ENST00000566827.1_Missense_Mutation_p.P578H|CDH11_ENST00000394156.3_3'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	704					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCCAGGTCTAGGCATGTACTG	0.512		NA	T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		16	16q22.1	1009	cadherin 11, type 2, OB-cadherin (osteoblast)		M	0													131	123	126			NA	NA	16		NA											NA				64981786		2203	4300	6503	SO:0001583	missense			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937	1009	1009		Cadherins / Major cadherins	1750	protein-coding gene	gene with protein product	OB-Cadherin	600023			NA	9615235	Standard	NM_033664	NM_001797	NA	Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.2111C>A	16.37:g.64981786G>T	ENSP00000268603:p.Pro704His	NA	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	37	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215385	0.58452	.	.	ENSG00000140937	ENST00000268603;ENST00000538390	T	0.78816	-1.21	6.17	6.17	0.99709	Cadherin, cytoplasmic domain (1);	0.197764	0.53938	D	0.000052	D	0.86772	0.6013	M	0.66939	2.045	0.53688	D	0.99997	D	0.67145	0.996	D	0.67231	0.95	T	0.83101	-0.0128	10	0.31617	T	0.26	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	704	P55287	CAD11_HUMAN	H	704;687	ENSP00000268603:P704H	ENSP00000268603:P704H	P	-	2	0	CDH11	63539287	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.063000	0.76714	2.941000	0.99782	0.655000	0.94253	CCT	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268755.1		-	ENST00000268603.4	Missense_Mutation	SNP	16 : 64981786 - 64981786 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	623	26
HTR1D	3352	broad.mit.edu	37	1	23519707	23519707	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23519707C>A	ENST00000374619.1	-	1	1515	c.1006G>T	c.(1006-1008)Gcg>Tcg	p.A336S	HTR1D_ENST00000314113.3_Missense_Mutation_p.A336S	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	336					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TCAAAGAGCGCCGGGTGGATC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	82	80			NA	NA	1		NA											NA				23519707		2203	4300	6503	SO:0001583	missense			M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546	3352	3352		5-HT (serotonin) receptors, GPCR / Class A : 5-HT (serotonin) receptors, GPCR only	5289	protein-coding gene	gene with protein product		182133	5-hydroxytryptamine (serotonin) receptor 1D	HTRL	NA	2541503, 1662665	Standard	NM_000864	NM_000864	NA	Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.1006G>T	1.37:g.23519707C>A	ENSP00000363748:p.Ala336Ser	NA		37	CCDS231.1	.	.	.	.	.	.	.	.	.	.	C	9.489	1.100115	0.20552	.	.	ENSG00000179546	ENST00000314113;ENST00000374619	T;T	0.37058	1.22;1.22	5.34	5.34	0.76211	GPCR, rhodopsin-like superfamily (1);	0.395173	0.26499	N	0.024039	T	0.26340	0.0643	N	0.25094	0.71	0.32500	N	0.538982	B	0.27166	0.17	B	0.39339	0.297	T	0.34925	-0.9809	10	0.10111	T	0.7	.	7.2503	0.26146	0.0:0.7326:0.174:0.0934	.	336	P28221	5HT1D_HUMAN	S	336	ENSP00000313661:A336S;ENSP00000363748:A336S	ENSP00000313661:A336S	A	-	1	0	HTR1D	23392294	0.973000	0.33851	0.991000	0.47740	0.946000	0.59487	2.543000	0.45752	2.518000	0.84900	0.650000	0.86243	GCG	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000008924.1		-	ENST00000374619.1	Missense_Mutation	SNP	1 : 23519707 - 23519707 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	606	130
L3HYPDH	112849	broad.mit.edu	37	14	59942594	59942594	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59942594G>T	ENST00000487285.1	-	4	619	c.419C>A	c.(418-420)gCt>gAt	p.A140D	L3HYPDH_ENST00000247194.4_Missense_Mutation_p.A311D					L-3-hydroxyproline dehydratase (trans-)	NA											NA						TACCCTCACAGCTTTCCCTGT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	83	83			NA	NA	14		NA											NA				59942594		2203	4299	6502	SO:0001583	missense			AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	112849	112849	4.2.1.77		20488	protein-coding gene	gene with protein product	trans-L-3-hydroxyproline dehydratase	614811	chromosome 14 open reading frame 149	C14orf149	NA	22528483	Standard	NM_144581	NM_144581	NA	Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000487285.1:c.419C>A	14.37:g.59942594G>T	ENSP00000431608:p.Ala140Asp	NA		37		.	.	.	.	.	.	.	.	.	.	G	32	5.110504	0.94292	.	.	ENSG00000126790	ENST00000247194;ENST00000487285;ENST00000481608	T;T;T	0.18502	2.21;2.21;2.21	5.34	5.34	0.76211	.	0.048853	0.85682	D	0.000000	T	0.35998	0.0951	M	0.76574	2.34	0.80722	D	1	D	0.56968	0.978	P	0.52554	0.702	T	0.18999	-1.0319	10	0.66056	D	0.02	.	18.6236	0.91330	0.0:0.0:1.0:0.0	.	311	Q96EM0	PRCM_HUMAN	D	311;140;140	ENSP00000247194:A311D;ENSP00000431608:A140D;ENSP00000423874:A140D	ENSP00000247194:A311D	A	-	2	0	C14orf149	59012347	1.000000	0.71417	0.898000	0.35279	0.958000	0.62258	7.318000	0.79029	2.480000	0.83734	0.460000	0.39030	GCT	L3HYPDH-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000072258.3		-	ENST00000487285.1	Missense_Mutation	SNP	14 : 59942594 - 59942594 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	465	94
LAMB3	3914	broad.mit.edu	37	1	209796389	209796389	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209796389C>A	ENST00000356082.4	-	17	2628	c.2494G>T	c.(2494-2496)Gcg>Tcg	p.A832S	LAMB3_ENST00000391911.1_Missense_Mutation_p.A832S|LAMB3_ENST00000367030.3_Missense_Mutation_p.A832S	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	832	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		ACCTGCCCCGCCATCAAGAAG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	71	67			NA	NA	1		NA											NA				209796389		2203	4300	6503	SO:0001583	missense			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878	3914	3914		Laminins	6490	protein-coding gene	gene with protein product		150310	laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))	LAMNB1	NA	8088808, 7774918	Standard	NM_000228	NM_001127641	NA	Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.2494G>T	1.37:g.209796389C>A	ENSP00000348384:p.Ala832Ser	NA	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	37	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303492	0.40795	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.49139	0.79;0.79;0.79	5.21	4.28	0.50868	.	0.115379	0.64402	D	0.000019	T	0.57417	0.2052	M	0.77616	2.38	0.21841	N	0.999519	D	0.58620	0.983	P	0.53313	0.723	T	0.54139	-0.8338	10	0.52906	T	0.07	.	8.3981	0.32570	0.1556:0.7661:0.0:0.0783	.	832	Q13751	LAMB3_HUMAN	S	832	ENSP00000375778:A832S;ENSP00000348384:A832S;ENSP00000355997:A832S	ENSP00000348384:A832S	A	-	1	0	LAMB3	207863012	0.973000	0.33851	0.045000	0.18777	0.218000	0.24690	2.419000	0.44671	1.193000	0.43086	0.456000	0.33151	GCG	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088525.2		-	ENST00000356082.4	Missense_Mutation	SNP	1 : 209796389 - 209796389 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	957	86
DISP2	85455	broad.mit.edu	37	15	40659920	40659920	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40659920G>A	ENST00000267889.3	+	8	1694	c.1607G>A	c.(1606-1608)cGc>cAc	p.R536H		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	536	SSD.				smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GTGGCCTTCCGCATGGCCTAC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	76	80			NA	NA	15		NA											NA				40659920		2203	4300	6503	SO:0001583	missense			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323	85455	85455			19712	protein-coding gene	gene with protein product		607503			NA	11214970, 10619433	Standard	NM_033510	NM_033510	NA	Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.1607G>A	15.37:g.40659920G>A	ENSP00000267889:p.Arg536His	NA	Q6AHW3|Q9C0C1	37	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.158351	0.38119	.	.	ENSG00000140323	ENST00000267889	D	0.95447	-3.71	5.58	5.58	0.84498	Sterol-sensing domain (1);	0.105275	0.64402	D	0.000007	D	0.93032	0.7782	L	0.45137	1.4	0.47905	D	0.999545	P	0.46656	0.882	B	0.39503	0.301	D	0.92354	0.5892	10	0.34782	T	0.22	-28.3214	19.5634	0.95382	0.0:0.0:1.0:0.0	.	536	A7MBM2	DISP2_HUMAN	H	536	ENSP00000267889:R536H	ENSP00000267889:R536H	R	+	2	0	DISP2	38447212	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.979000	0.56888	2.625000	0.88918	0.561000	0.74099	CGC	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252249.1		+	ENST00000267889.3	Missense_Mutation	SNP	15 : 40659920 - 40659920 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	383	67
ZKSCAN2	342357	broad.mit.edu	37	16	25251415	25251415	+	Missense_Mutation	SNP	C	C	T	rs146263630	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25251415C>T	ENST00000328086.7	-	7	3429	c.2626G>A	c.(2626-2628)Gcc>Acc	p.A876T		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	876					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CTCCGGTGGGCGCTGAAATGA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	THR/ALA	1,4393	2.1+/-5.4	0,1,2196	85	79	81		2626	4.7	1	16	dbSNP_134	81	6,8594	5.0+/-18.6	0,6,4294	yes	missense	ZKSCAN2	NM_001012981.4	58	0,7,6490	TT,TC,CC	NA	0.0698,0.0228,0.0539	probably-damaging	876/968	25251415	7,12987	2197	4300	6497	SO:0001583	missense			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592	342357	342357		Zinc fingers, C2H2-type, -, -, -	25677	protein-coding gene	gene with protein product			zinc finger protein 694	ZNF694	NA		Standard	NM_001012981	NM_001012981	NA	Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.2626G>A	16.37:g.25251415C>T	ENSP00000331626:p.Ala876Thr	NA	A1L3B4|Q6ZN77	37	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.425613	0.25639	2.28E-4	6.98E-4	ENSG00000155592	ENST00000328086	T	0.18174	2.23	5.64	4.67	0.58626	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.304622	0.28853	N	0.013939	T	0.06826	0.0174	N	0.04805	-0.155	0.29489	N	0.855764	B;B	0.23591	0.088;0.043	B;B	0.12837	0.008;0.006	T	0.24012	-1.0172	10	0.17832	T	0.49	-4.8782	6.3209	0.21217	0.0:0.7123:0.1851:0.1026	.	672;876	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	T	876	ENSP00000331626:A876T	ENSP00000331626:A876T	A	-	1	0	ZKSCAN2	25158916	0.000000	0.05858	0.998000	0.56505	0.465000	0.32709	-0.883000	0.04170	1.534000	0.49203	0.650000	0.86243	GCC	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000435739.1		-	ENST00000328086.7	Missense_Mutation	SNP	16 : 25251415 - 25251415 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	436	97
BMP3	651	broad.mit.edu	37	4	81967161	81967161	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:81967161T>A	ENST00000282701.2	+	2	906	c.586T>A	c.(586-588)Tcc>Acc	p.S196T		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	196					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						AGATATTATGTCCTGGCTGTC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	143	140			NA	NA	4		NA											NA				81967161		2203	4300	6503	SO:0001583	missense			M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785	651	651		Bone morphogenetic proteins	1070	protein-coding gene	gene with protein product	osteogenin	112263	bone morphogenetic protein 3 (osteogenic)		NA		Standard		NM_001201	NA	Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.586T>A	4.37:g.81967161T>A	ENSP00000282701:p.Ser196Thr	NA	Q4VAS5	37	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	T	1.091	-0.663966	0.03428	.	.	ENSG00000152785	ENST00000282701	T	0.65916	-0.18	5.08	-2.37	0.06643	Transforming growth factor-beta, N-terminal (1);	0.315470	0.40064	N	0.001194	T	0.45657	0.1353	M	0.66939	2.045	0.27087	N	0.962947	B	0.11235	0.004	B	0.12156	0.007	T	0.20438	-1.0275	10	0.13470	T	0.59	.	1.5263	0.02526	0.1518:0.1349:0.2093:0.504	.	196	P12645	BMP3_HUMAN	T	196	ENSP00000282701:S196T	ENSP00000282701:S196T	S	+	1	0	BMP3	82186185	0.197000	0.23362	0.056000	0.19401	0.024000	0.10985	0.753000	0.26376	-0.129000	0.11620	-0.313000	0.08912	TCC	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252634.1		+	ENST00000282701.2	Missense_Mutation	SNP	4 : 81967161 - 81967161 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	993	169
C19orf26	255057	broad.mit.edu	37	19	1235045	1235045	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1235045G>A	ENST00000590083.1	-	5	702	c.410C>T	c.(409-411)gCg>gTg	p.A137V	C19orf26_ENST00000382477.2_Missense_Mutation_p.A131V|C19orf26_ENST00000215376.6_Missense_Mutation_p.A131V			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	131						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAACAGCGCCGCCTCATTGAA	0.697		NA								HNSCC(14;0.022)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	25	24			NA	NA	19		NA											NA				1235045		2194	4295	6489	SO:0001583	missense			BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625	255057	255057			28617	protein-coding gene	gene with protein product	downstream of STK11				NA	12477932	Standard	NM_152769	NM_152769	NA	Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000590083.1:c.410C>T	19.37:g.1235045G>A	ENSP00000465260:p.Ala137Val	NA	O43385	37	CCDS12057.2	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691138	0.68271	.	.	ENSG00000099625	ENST00000382477;ENST00000215376	.	.	.	3.64	3.64	0.41730	.	0.284806	0.32120	N	0.006547	T	0.54240	0.1846	N	0.14661	0.345	0.53005	D	0.999967	D	0.89917	1.0	D	0.69479	0.964	T	0.63019	-0.6730	9	0.72032	D	0.01	.	14.4186	0.67168	0.0:0.0:1.0:0.0	.	131	Q8N350-2	.	V	131	.	ENSP00000215376:A131V	A	-	2	0	C19orf26	1186045	1.000000	0.71417	0.975000	0.42487	0.171000	0.22731	8.771000	0.91751	2.026000	0.59711	0.561000	0.74099	GCG	C19orf26-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449955.3		-	ENST00000590083.1	Missense_Mutation	SNP	19 : 1235045 - 1235045 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	194	20
NBAS	51594	broad.mit.edu	37	2	15330414	15330414	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15330414A>C	ENST00000281513.5	-	49	6571	c.6546T>G	c.(6544-6546)gcT>gcG	p.A2182A	NBAS_ENST00000441750.1_Silent_p.A2062A	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2182										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TAGGTGGCCAAGCTTGCAAAA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	115	115			NA	NA	2		NA											NA				15330414		2203	4300	6503	SO:0001819	synonymous_variant			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779	51594	51594			15625	protein-coding gene	gene with protein product		608025			NA	9926938, 12706883	Standard	NM_015909	NM_015909	NA	Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.6546T>G	2.37:g.15330414A>C		NA	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	37	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	A	6.795	0.515612	0.12944	.	.	ENSG00000151779	ENST00000442506	.	.	.	5.37	-10.7	0.00240	.	.	.	.	.	T	0.32645	0.0836	.	.	.	0.58432	D	0.999994	.	.	.	.	.	.	T	0.46247	-0.9205	4	.	.	.	.	2.0951	0.03666	0.1547:0.3135:0.2992:0.2326	.	.	.	.	R	1230	.	.	L	-	2	0	NBAS	15247865	0.004000	0.15560	0.132000	0.22025	0.631000	0.37964	-1.528000	0.02225	-3.487000	0.00154	0.528000	0.53228	CTT	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000241638.1		-	ENST00000281513.5	Silent	SNP	2 : 15330414 - 15330414 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	338	50
TSEN54	283989	broad.mit.edu	37	17	73518145	73518145	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73518145C>T	ENST00000333213.6	+	8	1019	c.983C>T	c.(982-984)gCt>gTt	p.A328V		NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	328					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCAACGTGGCTGGGCGGGAG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	14	15			NA	NA	17		NA											NA				73518145		2190	4286	6476	SO:0001583	missense			AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173	283989	283989		tRNA splicing endonuclease subunits	27561	protein-coding gene	gene with protein product		608755	tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae), tRNA splicing endonuclease 54 homolog (S. cerevisiae)		NA	15109492	Standard	NM_207346	NM_207346	NA	Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.983C>T	17.37:g.73518145C>T	ENSP00000327487:p.Ala328Val	NA	Q86WV3|Q86XE4|Q8N9H2	37	CCDS11724.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.842806	0.32606	.	.	ENSG00000182173	ENST00000333213	T	0.58210	0.35	5.33	3.34	0.38264	.	0.768822	0.12434	N	0.469320	T	0.43809	0.1264	L	0.50333	1.59	0.09310	N	0.999999	B	0.22480	0.07	B	0.18561	0.022	T	0.29882	-0.9997	10	0.12430	T	0.62	1.1449	10.9413	0.47275	0.0:0.8465:0.0:0.1535	.	328	Q7Z6J9	SEN54_HUMAN	V	328	ENSP00000327487:A328V	ENSP00000327487:A328V	A	+	2	0	TSEN54	71029740	0.000000	0.05858	0.043000	0.18650	0.715000	0.41141	-0.025000	0.12413	0.607000	0.29982	0.561000	0.74099	GCT	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447618.1		+	ENST00000333213.6	Missense_Mutation	SNP	17 : 73518145 - 73518145 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	44	6
ZFHX4	79776	broad.mit.edu	37	8	77764149	77764149	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77764149T>A	ENST00000521891.2	+	10	5440	c.4992T>A	c.(4990-4992)caT>caA	p.H1664Q	ZFHX4_ENST00000050961.6_Missense_Mutation_p.H1619Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H1619Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H1638Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1619	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAGATACCCATTTAGATGCCA	0.448		NA								HNSCC(33;0.089)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	87	87			NA	NA	8		NA											NA				77764149		1935	4134	6069	SO:0001583	missense				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656	79776	79776		Homeoboxes / ZF class	30939	protein-coding gene	gene with protein product		606940	zinc finger homeodomain 4		NA	10873665, 11935336	Standard	NM_024721	NM_024721	NA	Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4992T>A	8.37:g.77764149T>A	ENSP00000430497:p.His1664Gln	NA	Q18PS0|Q6ZN20	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	T	10.65	1.410196	0.25465	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.46063	0.88;0.93;0.9;0.89	4.41	2.47	0.30058	.	0.000000	0.46442	U	0.000296	T	0.26195	0.0639	L	0.44542	1.39	0.37302	D	0.908734	B;B;B	0.29508	0.159;0.246;0.246	B;B;B	0.26416	0.031;0.069;0.069	T	0.07731	-1.0757	10	0.13470	T	0.59	.	4.5736	0.12223	0.0:0.4457:0.0:0.5543	.	1619;1619;1664	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	Q	1664;1664;1619;1619;1638	ENSP00000430497:H1664Q;ENSP00000399605:H1619Q;ENSP00000050961:H1619Q;ENSP00000430848:H1638Q	ENSP00000050961:H1619Q	H	+	3	2	ZFHX4	77926704	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.937000	0.28951	1.104000	0.41587	0.443000	0.29094	CAT	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379197.2		+	ENST00000521891.2	Missense_Mutation	SNP	8 : 77764149 - 77764149 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	432	46
ZIC1	7545	broad.mit.edu	37	3	147131179	147131179	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147131179G>A	ENST00000282928.4	+	3	1914	c.1185G>A	c.(1183-1185)ccG>ccA	p.P395P		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	395	Ser-rich.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						AGCCTTCGCCGGCCGCCAGCT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	84	87			NA	NA	3		NA											NA				147131179		2203	4300	6503	SO:0001819	synonymous_variant			D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977	7545	7545		Zinc fingers, C2H2-type	12872	protein-coding gene	gene with protein product		600470	Zic family member 1 (odd-paired Drosophila homolog), Zic family member 1 (odd-paired homolog, Drosophila)		NA	8542595	Standard	NM_003412	NM_003412	NA	Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.1185G>A	3.37:g.147131179G>A		NA	Q2M3N1	37	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311996	0.23821	.	.	ENSG00000152977	ENST00000488404	.	.	.	3.37	-2.35	0.06684	.	.	.	.	.	T	0.42426	0.1202	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30208	-0.9986	4	.	.	.	.	3.8539	0.08967	0.1738:0.4747:0.2441:0.1074	.	.	.	.	Q	84	.	.	R	+	2	0	ZIC1	148613869	0.105000	0.21958	0.996000	0.52242	0.964000	0.63967	-0.548000	0.06048	-0.442000	0.07190	0.462000	0.41574	CGG	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355497.1		+	ENST00000282928.4	Silent	SNP	3 : 147131179 - 147131179 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	613	113
NGLY1	55768	broad.mit.edu	37	3	25761000	25761000	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:25761000T>C	ENST00000417874.2	-	12	1963	c.1790A>G	c.(1789-1791)gAc>gGc	p.D597G	NGLY1_ENST00000396649.3_3'UTR|NGLY1_ENST00000467224.1_5'UTR|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000428257.1_Missense_Mutation_p.D621G|NGLY1_ENST00000280700.5_Missense_Mutation_p.D639G	NM_001145294.1	NP_001138766.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	639	PAW.				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						TTCTTCATGGTCATTTAAGCT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	104	103			NA	NA	3		NA											NA				25761000		2203	4300	6503	SO:0001583	missense			AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092	55768	55768			17646	protein-coding gene	gene with protein product		610661			NA		Standard		NM_018297	NA	Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000417874.2:c.1790A>G	3.37:g.25761000T>C	ENSP00000389888:p.Asp597Gly	NA	Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	37	CCDS46777.1	.	.	.	.	.	.	.	.	.	.	T	13.00	2.107473	0.37145	.	.	ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000308710;ENST00000417874	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	5.71	5.71	0.89125	Peptide N glycanase, PAW domain (1);Galactose-binding domain-like (1);	0.132657	0.64402	D	0.000003	T	0.20577	0.0495	L	0.41415	1.275	0.80722	D	1	B;B;B	0.12013	0.001;0.005;0.002	B;B;B	0.13407	0.007;0.009;0.006	T	0.05699	-1.0869	10	0.38643	T	0.18	-19.0564	8.5722	0.33576	0.0:0.1139:0.0:0.8861	.	597;621;639	B4DJE9;Q96IV0-2;Q96IV0	.;.;NGLY1_HUMAN	G	621;639;618;597	ENSP00000387430:D621G;ENSP00000280700:D639G;ENSP00000307980:D618G;ENSP00000389888:D597G	ENSP00000280700:D639G	D	-	2	0	NGLY1	25736004	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.055000	0.64282	2.188000	0.69820	0.454000	0.30748	GAC	NGLY1-008	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340839.2		-	ENST00000417874.2	Missense_Mutation	SNP	3 : 25761000 - 25761000 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	71
ZNF662	389114	broad.mit.edu	37	3	42956202	42956202	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42956202A>C	ENST00000541208.1	+	5	1006	c.637A>C	c.(637-639)Act>Cct	p.T213P	ZNF662_ENST00000440367.2_Missense_Mutation_p.T213P|ZNF662_ENST00000328199.6_Missense_Mutation_p.T239P|ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		ACACCAGAAAACTCATAATGG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	95	94			NA	NA	3		NA											NA				42956202		2203	4300	6503	SO:0001583	missense			AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983	389114	389114		Zinc fingers, C2H2-type, -	31930	protein-coding gene	gene with protein product					NA		Standard	NM_207404	NM_207404	NA	Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.637A>C	3.37:g.42956202A>C	ENSP00000446208:p.Thr213Pro	NA	Q6ZNF8|Q6ZQW8	37	CCDS2708.1	.	.	.	.	.	.	.	.	.	.	A	9.854	1.194592	0.22037	.	.	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208	T;T;T	0.20598	2.06;2.06;2.06	3.29	0.801	0.18679	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24699	0.0599	M	0.62723	1.935	0.23550	N	0.997432	B;B	0.31859	0.332;0.343	B;B	0.39217	0.148;0.294	T	0.31806	-0.9930	9	0.87932	D	0	.	6.2962	0.21087	0.7706:0.0:0.2294:0.0	.	239;213	F8W7S8;Q6ZS27	.;ZN662_HUMAN	P	213;239;213	ENSP00000405047:T213P;ENSP00000329264:T239P;ENSP00000446208:T213P	ENSP00000329264:T239P	T	+	1	0	ZNF662	42931206	0.000000	0.05858	0.314000	0.25224	0.475000	0.33008	0.550000	0.23345	0.062000	0.16340	0.454000	0.30748	ACT	ZNF662-201	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256646.4		+	ENST00000541208.1	Missense_Mutation	SNP	3 : 42956202 - 42956202 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	619	117
XRCC6BP1	91419	broad.mit.edu	37	12	58335665	58335665	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58335665G>A	ENST00000300145.3	+	1	306	c.181G>A	c.(181-183)Gag>Aag	p.E61K		NM_033276.2	NP_150592.1	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1	61					double-strand break repair via nonhomologous end joining	DNA-dependent protein kinase-DNA ligase 4 complex	DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						GAAGACGCTGGAGACAAGTAG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	36	35			NA	NA	12		NA											NA				58335665		1939	4144	6083	SO:0001583	missense			AF078164	CCDS41802.1	12q14.1	2006-01-09				ENSG00000166896	91419	91419			29452	protein-coding gene	gene with protein product	Ku70 binding protein 3				NA	10219089	Standard	NM_033276	XM_005269223	NA	Approved	KUB3	uc001sqp.3	Q9Y6H3	OTTHUMG00000170493	ENST00000300145.3:c.181G>A	12.37:g.58335665G>A	ENSP00000300145:p.Glu61Lys	NA	Q1RLM4|Q96E81	37	CCDS41802.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138802	0.56936	.	.	ENSG00000166896	ENST00000300145	T	0.41758	0.99	4.84	-0.808	0.10868	Metallopeptidase, catalytic domain (1);	0.745417	0.13537	N	0.380492	T	0.19287	0.0463	N	0.11064	0.09	0.32488	N	0.54066	B	0.16603	0.018	B	0.18871	0.023	T	0.43294	-0.9400	10	0.02654	T	1	.	12.3052	0.54898	0.0685:0.5094:0.4221:0.0	.	61	Q9Y6H3	ATP23_HUMAN	K	61	ENSP00000300145:E61K	ENSP00000300145:E61K	E	+	1	0	XRCC6BP1	56621932	0.998000	0.40836	0.129000	0.21949	0.864000	0.49448	1.468000	0.35332	-0.253000	0.09514	0.655000	0.94253	GAG	XRCC6BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409390.1		+	ENST00000300145.3	Missense_Mutation	SNP	12 : 58335665 - 58335665 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	182	38
TNC	3371	broad.mit.edu	37	9	117846662	117846662	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117846662G>A	ENST00000341037.4	-	3	2085	c.1957C>T	c.(1957-1959)Ctt>Ttt	p.L653F	TNC_ENST00000535648.1_Missense_Mutation_p.L653F|TNC_ENST00000340094.3_Missense_Mutation_p.L653F|TNC_ENST00000346706.3_Missense_Mutation_p.L653F|TNC_ENST00000537320.1_Missense_Mutation_p.L653F|TNC_ENST00000423613.2_Missense_Mutation_p.L653F|TNC_ENST00000345230.3_Missense_Mutation_p.L653F|TNC_ENST00000350763.4_Missense_Mutation_p.L653F|TNC_ENST00000542877.1_Missense_Mutation_p.L653F			P24821	TENA_HUMAN	tenascin C	653	Fibronectin type-III 1.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TACACGACAAGGTACTCTGTG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	140	145			NA	NA	9		NA											NA				117846662		2203	4300	6503	SO:0001583	missense				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982	3371	3371		Fibrinogen C domain containing, Fibronectin type III domain containing	5318	protein-coding gene	gene with protein product	hexabrachion (tenascin)	187380	hexabrachion (tenascin C, cytotactin), deafness, autosomal dominant 56	HXB, DFNA56	NA	1704365, 1707164, 23936043	Standard	NM_002160	NM_002160	NA	Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000341037.4:c.1957C>T	9.37:g.117846662G>A	ENSP00000339553:p.Leu653Phe	NA	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	37		.	.	.	.	.	.	.	.	.	.	G	21.6	4.180407	0.78677	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39	5.93	5.93	0.95920	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.057231	0.64402	D	0.000001	T	0.75451	0.3851	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.75357	-0.3346	10	0.56958	D	0.05	.	20.3422	0.98769	0.0:0.0:1.0:0.0	.	653;653	E9PC84;P24821	.;TENA_HUMAN	F	653	ENSP00000344400:L653F;ENSP00000438152:L653F;ENSP00000344555:L653F;ENSP00000345861:L653F;ENSP00000265131:L653F;ENSP00000339553:L653F;ENSP00000411406:L653F;ENSP00000443478:L653F;ENSP00000442242:L653F	ENSP00000344400:L653F	L	-	1	0	TNC	116886483	1.000000	0.71417	0.989000	0.46669	0.332000	0.28634	5.286000	0.65639	2.810000	0.96702	0.655000	0.94253	CTT	TNC-011	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000397659.2		-	ENST00000341037.4	Missense_Mutation	SNP	9 : 117846662 - 117846662 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	367	60
SFXN1	94081	broad.mit.edu	37	5	174919199	174919199	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174919199A>C	ENST00000321442.5	+	2	347	c.93A>C	c.(91-93)gtA>gtC	p.V31V	SFXN1_ENST00000502393.1_Silent_p.V31V	NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	31					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCTTCACTGTAACTGACCCCA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	100	105			NA	NA	5		NA											NA				174919199		2203	4300	6503	SO:0001819	synonymous_variant			AF327346	CCDS4394.1	5q35.3	2008-02-05			ENSG00000164466	ENSG00000164466	94081	94081		Sideroflexins	16085	protein-coding gene	gene with protein product		615569			NA		Standard	NM_022754	NM_022754	NA	Approved	FLJ12876	uc003mda.2	Q9H9B4	OTTHUMG00000130555	ENST00000321442.5:c.93A>C	5.37:g.174919199A>C		NA	B3KPW3|D3DQN2|Q9HA53	37	CCDS4394.1																																																																																			SFXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252980.2		+	ENST00000321442.5	Silent	SNP	5 : 174919199 - 174919199 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	312	70
SLCO4C1	353189	broad.mit.edu	37	5	101631905	101631905	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:101631905C>T	ENST00000310954.6	-	1	348	c.62G>A	c.(61-63)cGc>cAc	p.R21H		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	21					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AGACAAGCGGCGCAGGATGTC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	80	77			NA	NA	5		NA											NA				101631905		2203	4300	6503	SO:0001583	missense			AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930	353189	353189		Solute carriers	23612	protein-coding gene	gene with protein product		609013			NA		Standard	NM_180991	NM_180991	NA	Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.62G>A	5.37:g.101631905C>T	ENSP00000309741:p.Arg21His	NA	Q86UG5	37	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	C	7.900	0.734184	0.15574	.	.	ENSG00000173930	ENST00000310954	T	0.46451	0.87	4.11	2.32	0.28847	.	2.458350	0.01476	N	0.016471	T	0.35970	0.0950	L	0.42245	1.32	0.21386	N	0.999706	B	0.29432	0.244	B	0.18561	0.022	T	0.19031	-1.0318	10	0.48119	T	0.1	.	6.0552	0.19807	0.0:0.7624:0.0:0.2376	.	21	Q6ZQN7	SO4C1_HUMAN	H	21	ENSP00000309741:R21H	ENSP00000309741:R21H	R	-	2	0	SLCO4C1	101659804	0.640000	0.27243	0.793000	0.32043	0.076000	0.17211	0.117000	0.15583	0.379000	0.24794	0.591000	0.81541	CGC	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370332.1		-	ENST00000310954.6	Missense_Mutation	SNP	5 : 101631905 - 101631905 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	380	66
C7	730	broad.mit.edu	37	5	40947834	40947834	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:40947834G>A	ENST00000313164.9	+	8	1228	c.869G>A	c.(868-870)aGt>aAt	p.S290N		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	290	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex					NA		Ovarian(839;0.0112)				TATGACTACAGTGCCTACCGA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	87	88			NA	NA	5		NA											NA				40947834		1850	4091	5941	SO:0001583	missense			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936	730	730		Complement system	1346	protein-coding gene	gene with protein product		217070			NA		Standard		NM_000587	NA	Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.869G>A	5.37:g.40947834G>A	ENSP00000322061:p.Ser290Asn	NA	Q6P3T5|Q92489	37	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096169	0.56075	.	.	ENSG00000112936	ENST00000313164;ENST00000515157	D	0.83755	-1.76	5.9	5.04	0.67666	Membrane attack complex component/perforin (MACPF) domain (3);	0.264931	0.45126	D	0.000385	T	0.79167	0.4400	L	0.58101	1.795	0.39187	D	0.962896	B	0.20550	0.046	B	0.22601	0.04	T	0.75803	-0.3189	10	0.37606	T	0.19	-12.6631	10.4816	0.44698	0.1479:0.0:0.8521:0.0	.	290	P10643	CO7_HUMAN	N	290	ENSP00000322061:S290N	ENSP00000322061:S290N	S	+	2	0	C7	40983591	0.006000	0.16342	1.000000	0.80357	0.886000	0.51366	0.308000	0.19314	1.502000	0.48669	-0.142000	0.14014	AGT	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317680.1		+	ENST00000313164.9	Missense_Mutation	SNP	5 : 40947834 - 40947834 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	288	58
PMS2	5395	broad.mit.edu	37	7	6045573	6045573	+	Missense_Mutation	SNP	G	G	A	rs148270248		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6045573G>A	ENST00000265849.7	-	2	218	c.113C>T	c.(112-114)gCg>gTg	p.A38V	PMS2_ENST00000406569.3_Missense_Mutation_p.A38V|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000382321.4_Missense_Mutation_p.A38V	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	38					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CTCCTTTACCGCAGTGCTTAG	0.433		NA	Mis, N, F			colorectal, endometrial, ovarian, medulloblastoma, glioma		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Hereditary non-polyposis colorectal cancer, Turcot syndrome	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	0								G	VAL/ALA	1,2741		0,1,1370	298	362	338		113	5.7	0.9	7	dbSNP_134	338	0,4664		0,0,2332	no	missense	PMS2	NM_000535.5	64	0,1,3702	AA,AG,GG	NA	0.0,0.0365,0.0135	probably-damaging	38/863	6045573	1,7405	1371	2332	3703	SO:0001583	missense	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512	5395	5395			9122	protein-coding gene	gene with protein product		600259	postmeiotic segregation increased (S. cerevisiae) 2	PMSL2	NA	8072530	Standard	NM_000535	NM_000535	NA	Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.113C>T	7.37:g.6045573G>A	ENSP00000265849:p.Ala38Val	NA	B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	37	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	G	35	5.440113	0.96168	3.65E-4	0.0	ENSG00000122512	ENST00000265849;ENST00000382321;ENST00000406569	D;D;D	0.97378	-4.36;-4.36;-4.36	5.67	5.67	0.87782	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.97009	0.9023	L	0.31207	0.915	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.71656	0.974;0.55;0.966	D	0.95682	0.8733	10	0.22109	T	0.4	.	19.7586	0.96304	0.0:0.0:1.0:0.0	.	38;38;38	P54278-3;P54278-2;P54278	.;.;PMS2_HUMAN	V	38	ENSP00000265849:A38V;ENSP00000371758:A38V;ENSP00000384308:A38V	ENSP00000265849:A38V	A	-	2	0	PMS2	6012099	1.000000	0.71417	0.935000	0.37517	0.942000	0.58702	9.367000	0.97148	2.663000	0.90544	0.585000	0.79938	GCG	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207353.3		-	ENST00000265849.7	Missense_Mutation	SNP	7 : 6045573 - 6045573 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1774	351
PCNXL4	64430	broad.mit.edu	37	14	60581598	60581598	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60581598G>A	ENST00000406854.1	+	3	1423		c.e3+1		PCNXL4_ENST00000406949.1_Splice_Site|PCNXL4_ENST00000404681.2_Splice_Site|PCNXL4_ENST00000317623.4_Splice_Site					pecanex-like 4 (Drosophila)	NA											NA						CCCACTTACGGTATTTATTTT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	90	91			NA	NA	14		NA											NA				60581598		1796	4063	5859	SO:0001630	splice_region_variant			AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773	64430	64430			20349	protein-coding gene	gene with protein product			chromosome 14 open reading frame 135	C14orf135	NA		Standard	NM_022495	NM_022495	NA	Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.869+1G>A	14.37:g.60581598G>A		NA		37		.	.	.	.	.	.	.	.	.	.	G	14.26	2.481435	0.44147	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8245	0.92111	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C14orf135	59651351	1.000000	0.71417	0.993000	0.49108	0.484000	0.33280	9.316000	0.96319	2.512000	0.84698	0.462000	0.41574	.	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000317847.1	Intron	+	ENST00000406854.1	Splice_Site	SNP	14 : 60581598 - 60581598 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	680	124
SATB2	23314	broad.mit.edu	37	2	200137033	200137033	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200137033G>A	ENST00000443023.1	-	10	3391	c.1926C>T	c.(1924-1926)aaC>aaT	p.N642N	SATB2_ENST00000260926.5_Silent_p.N701N|SATB2_ENST00000457245.1_Silent_p.N701N|SATB2_ENST00000417098.1_Silent_p.N701N|SATB2_ENST00000428695.1_Silent_p.N583N			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	701						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCTCGCTGTCGTTCTCCTCTG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(30;262 767 11040 24421 36230)							NA				0													128	117	121			NA	NA	2		NA											NA				200137033		2203	4300	6503	SO:0001819	synonymous_variant			AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042	23314	23314		Homeoboxes / CUT class	21637	protein-coding gene	gene with protein product		608148	SATB family member 2		NA		Standard	NM_015265	NM_015265	NA	Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000443023.1:c.1926C>T	2.37:g.200137033G>A		NA	A8K5Z8|Q4V763	37																																																																																				SATB2-012	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000340208.1		-	ENST00000443023.1	Silent	SNP	2 : 200137033 - 200137033 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	647	121
EDNRB	1910	broad.mit.edu	37	13	78492556	78492556	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:78492556C>A	ENST00000377211.4	-	2	575	c.423G>T	c.(421-423)aaG>aaT	p.K141N	EDNRB_ENST00000475537.1_5'UTR|EDNRB_ENST00000334286.5_Missense_Mutation_p.K51N|EDNRB_ENST00000446573.1_Missense_Mutation_p.K51N	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	51					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	GCCATAAGGTCTTAGTGGGTG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	76	74			NA	NA	13		NA											NA				78492556		2203	4300	6503	SO:0001583	missense			L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160	1910	1910		GPCR / Class A : Endothelin receptors	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR	NA	1659806, 9556633	Standard		NM_000115	NA	Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000377211.4:c.423G>T	13.37:g.78492556C>A	ENSP00000366416:p.Lys141Asn	NA	A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	37	CCDS55902.1	.	.	.	.	.	.	.	.	.	.	C	9.858	1.195525	0.22037	.	.	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	T;T;T	0.54675	0.56;0.56;0.56	4.04	2.3	0.28687	.	0.927486	0.09275	N	0.824652	T	0.38295	0.1035	L	0.34521	1.04	0.09310	N	1	B;B;B	0.26708	0.157;0.003;0.023	B;B;B	0.24155	0.051;0.003;0.01	T	0.25293	-1.0136	10	0.35671	T	0.21	-2.4878	5.9342	0.19156	0.0:0.7641:0.0:0.2359	.	51;141;51	P24530-2;P24530-3;P24530	.;.;EDNRB_HUMAN	N	141;51;51	ENSP00000366416:K141N;ENSP00000403401:K51N;ENSP00000335311:K51N	ENSP00000335311:K51N	K	-	3	2	EDNRB	77390557	0.000000	0.05858	0.066000	0.19879	0.430000	0.31655	0.369000	0.20416	1.053000	0.40415	-0.194000	0.12790	AAG	EDNRB-001	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045350.3		-	ENST00000377211.4	Missense_Mutation	SNP	13 : 78492556 - 78492556 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	343	60
MLLT10	8028	broad.mit.edu	37	10	22022979	22022979	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22022979T>C	ENST00000377072.3	+	21	3175	c.2827T>C	c.(2827-2829)Tcc>Ccc	p.S943P	MLLT10_ENST00000377059.3_Missense_Mutation_p.S927P|MLLT10_ENST00000307729.7_Missense_Mutation_p.S927P|MLLT10_ENST00000446906.2_Missense_Mutation_p.S927P	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	943					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						TGTCACAATGTCCCAGAACCC	0.458		NA	T	MLL, PICALM, CDK6	AL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		10	10p12	8028	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)		L	0													119	99	106			NA	NA	10		NA											NA				22022979		2203	4300	6503	SO:0001583	missense			U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403	8028	8028		Zinc fingers, PHD-type	16063	protein-coding gene	gene with protein product		602409	myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10		NA	7888665	Standard		NM_004641	NA	Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000377072.3:c.2827T>C	10.37:g.22022979T>C	ENSP00000366272:p.Ser943Pro	NA	Q5JT37	37	CCDS7135.1	.	.	.	.	.	.	.	.	.	.	T	11.14	1.550030	0.27652	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059	T;T;T;T	0.16897	2.31;2.32;2.32;2.32	4.94	2.55	0.30701	.	0.530450	0.21640	N	0.071348	T	0.06735	0.0172	N	0.05124	-0.11	0.80722	D	1	B;B;B;B	0.14012	0.009;0.005;0.0;0.005	B;B;B;B	0.11329	0.006;0.003;0.0;0.003	T	0.26189	-1.0110	10	0.30078	T	0.28	.	4.0468	0.09776	0.1548:0.1592:0.0:0.6859	.	622;927;927;943	Q5HYC6;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	P	943;927;927;762;927	ENSP00000366272:S943P;ENSP00000401406:S927P;ENSP00000307411:S927P;ENSP00000366258:S927P	ENSP00000307411:S927P	S	+	1	0	MLLT10	22062985	0.997000	0.39634	0.938000	0.37757	0.950000	0.60333	0.429000	0.21412	0.685000	0.31468	0.455000	0.32223	TCC	MLLT10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047135.1		+	ENST00000377072.3	Missense_Mutation	SNP	10 : 22022979 - 22022979 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	67
OSMR	9180	broad.mit.edu	37	5	38933354	38933354	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38933354T>G	ENST00000274276.3	+	18	3150	c.2748T>G	c.(2746-2748)aaT>aaG	p.N916K		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	916					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CAAGTTTGAATTATGTGTCCC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	84	82			NA	NA	5		NA											NA				38933354		2203	4300	6503	SO:0001583	missense			U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623	9180	9180		Fibronectin type III domain containing	8507	protein-coding gene	gene with protein product		601743			NA	8999038	Standard	NM_003999	NM_001168355	NA	Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.2748T>G	5.37:g.38933354T>G	ENSP00000274276:p.Asn916Lys	NA	Q6P4E8|Q96QJ6	37	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	T	7.063	0.566823	0.13560	.	.	ENSG00000145623	ENST00000274276	T	0.45668	0.89	5.85	4.69	0.59074	.	1.853720	0.02208	N	0.062901	T	0.41259	0.1151	L	0.56769	1.78	0.29781	N	0.833977	P	0.42456	0.78	B	0.40636	0.335	T	0.42732	-0.9434	10	0.02654	T	1	.	8.6037	0.33760	0.0:0.0864:0.0:0.9136	.	916	Q99650	OSMR_HUMAN	K	916	ENSP00000274276:N916K	ENSP00000274276:N916K	N	+	3	2	OSMR	38969111	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	0.483000	0.22292	1.034000	0.39945	0.533000	0.62120	AAT	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207609.2		+	ENST00000274276.3	Missense_Mutation	SNP	5 : 38933354 - 38933354 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	573	106
OSBPL2	9885	broad.mit.edu	37	20	60864297	60864297	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60864297A>G	ENST00000313733.3	+	12	1362	c.1160A>G	c.(1159-1161)aAc>aGc	p.N387S	OSBPL2_ENST00000358053.2_Missense_Mutation_p.N375S|OSBPL2_ENST00000439951.2_Intron	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	387					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GTGAGCCTCAACGAGCTGGAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	66	73			NA	NA	20		NA											NA				60864297		2203	4300	6503	SO:0001583	missense			AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703	9885	9885		Oxysterol binding proteins	15761	protein-coding gene	gene with protein product		606731	oxysterol-binding protein-like 2		NA	10588946, 11861666	Standard	NM_014835	NM_144498	NA	Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.1160A>G	20.37:g.60864297A>G	ENSP00000316649:p.Asn387Ser	NA	A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	37	CCDS13495.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.444091	0.83993	.	.	ENSG00000130703	ENST00000358053;ENST00000313733	T;T	0.52983	0.64;0.64	4.22	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.77294	0.4109	H	0.95884	3.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84747	0.0754	10	0.87932	D	0	-8.5733	13.2847	0.60237	1.0:0.0:0.0:0.0	.	375;387	Q9H1P3-2;Q9H1P3	.;OSBL2_HUMAN	S	375;387	ENSP00000350755:N375S;ENSP00000316649:N387S	ENSP00000316649:N387S	N	+	2	0	OSBPL2	60297692	1.000000	0.71417	0.612000	0.29024	0.971000	0.66376	9.136000	0.94489	1.686000	0.51046	0.459000	0.35465	AAC	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080021.1		+	ENST00000313733.3	Missense_Mutation	SNP	20 : 60864297 - 60864297 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	132	16
SLC25A44	9673	broad.mit.edu	37	1	156169976	156169976	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156169976T>G	ENST00000359511.4	+	2	510	c.338T>G	c.(337-339)cTg>cGg	p.L113R	SLC25A44_ENST00000469537.1_3'UTR|SLC25A44_ENST00000423538.2_Missense_Mutation_p.L113R	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	113					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					GTCAAATCACTGGTGGCTGGT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	71	73			NA	NA	1		NA											NA				156169976		2203	4300	6503	SO:0001583	missense			AB007915	CCDS1133.1, CCDS72943.1	1q22	2013-05-22			ENSG00000160785	ENSG00000160785	9673	9673		Solute carriers	29036	protein-coding gene	gene with protein product		610824			NA	16949250	Standard	NM_014655	NM_001286184	NA	Approved	FLJ90431, KIAA0446	uc001fnp.3	Q96H78	OTTHUMG00000014816	ENST00000359511.4:c.338T>G	1.37:g.156169976T>G	ENSP00000352497:p.Leu113Arg	NA	O75034	37	CCDS1133.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.434458	0.83776	.	.	ENSG00000160785	ENST00000359511;ENST00000423538;ENST00000412949	D;T	0.82526	-1.62;-1.45	5.9	5.9	0.94986	Mitochondrial carrier domain (2);	0.000000	0.64402	D	0.000005	D	0.92629	0.7658	H	0.95470	3.675	0.80722	D	1	D;D;D	0.76494	0.999;0.992;0.994	D;D;D	0.74348	0.983;0.95;0.976	D	0.94587	0.7784	10	0.87932	D	0	-7.9359	14.2753	0.66175	0.0:0.0:0.0:1.0	.	113;113;113	E9PGQ0;B4DGC4;Q96H78	.;.;S2544_HUMAN	R	113	ENSP00000352497:L113R;ENSP00000407560:L113R	ENSP00000352497:L113R	L	+	2	0	SLC25A44	154436600	1.000000	0.71417	0.968000	0.41197	0.996000	0.88848	7.825000	0.86693	2.254000	0.74563	0.482000	0.46254	CTG	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040856.1		+	ENST00000359511.4	Missense_Mutation	SNP	1 : 156169976 - 156169976 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	280	70
RPL22L1	200916	broad.mit.edu	37	3	170585924	170585924	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170585924C>A	ENST00000295830.8	-	3	418		c.e3-1		RPL22L1_ENST00000463836.1_Splice_Site	NM_001099645.1	NP_001093115.1	Q6P5R6	RL22L_HUMAN	ribosomal protein L22-like 1	NA					translation	ribosome	structural constituent of ribosome			kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	4	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			GAAATTGCTCCTATTTTAAAA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	40	42			NA	NA	3		NA											NA				170585924		1802	4060	5862	SO:0001630	splice_region_variant			BC062731	CCDS46955.1	3q26.2	2005-08-09			ENSG00000163584	ENSG00000163584	200916	200916			27610	protein-coding gene	gene with protein product					NA		Standard	XM_114317	NM_001099645	NA	Approved		uc003fhc.4	Q6P5R6	OTTHUMG00000158957	ENST00000295830.8:c.103-1G>T	3.37:g.170585924C>A		NA	Q32Q77	37	CCDS46955.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494590	0.85069	.	.	ENSG00000163584	ENST00000295830;ENST00000466674;ENST00000463836	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9433	0.97172	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RPL22L1	172068618	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	2.716000	0.92895	0.655000	0.94253	.	RPL22L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352586.2	Intron	-	ENST00000295830.8	Splice_Site	SNP	3 : 170585924 - 170585924 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	48	5
CNTROB	116840	broad.mit.edu	37	17	7846813	7846813	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7846813G>A	ENST00000380262.3	+	10	2341	c.1416G>A	c.(1414-1416)cgG>cgA	p.R472R	CNTROB_ENST00000380255.3_Silent_p.R472R|CNTROB_ENST00000563694.1_Silent_p.R472R|CNTROB_ENST00000565740.1_Silent_p.R472R	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	472	Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GCAGCCTACGGCAAGCAGCCT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	40	44			NA	NA	17		NA											NA				7846813		2202	4300	6502	SO:0001819	synonymous_variant			AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037	116840	116840			29616	protein-coding gene	gene with protein product	centrobin	611425			NA	11984006, 16275750	Standard	NM_053051	NM_001037144	NA	Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000380262.3:c.1416G>A	17.37:g.7846813G>A		NA	A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	37	CCDS32557.1																																																																																			CNTROB-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421371.1		+	ENST00000380262.3	Silent	SNP	17 : 7846813 - 7846813 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	336	55
FAT4	79633	broad.mit.edu	37	4	126239656	126239656	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126239656A>G	ENST00000394329.3	+	1	2103	c.2090A>G	c.(2089-2091)cAc>cGc	p.H697R		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	697	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TACTTTGCTCACATTAAGGAG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	92	92			NA	NA	4		NA											NA				126239656		1986	4178	6164	SO:0001583	missense			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159	79633	79633		Cadherins / Cadherin-related	23109	protein-coding gene	gene with protein product	cadherin-related family member 11	612411	FAT tumor suppressor homolog 4 (Drosophila)		NA	15003449	Standard	NM_024582	NM_024582	NA	Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.2090A>G	4.37:g.126239656A>G	ENSP00000377862:p.His697Arg	NA	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	8.298	0.819281	0.16607	.	.	ENSG00000196159	ENST00000394329	T	0.01685	4.69	5.28	2.88	0.33553	Cadherin (3);Cadherin-like (1);	0.000000	0.35436	U	0.003202	T	0.01387	0.0045	N	0.14661	0.345	0.80722	D	1	B	0.23490	0.086	B	0.29077	0.098	T	0.60762	-0.7199	10	0.21540	T	0.41	.	9.1287	0.36833	0.8521:0.0:0.1479:0.0	.	697	Q6V0I7	FAT4_HUMAN	R	697	ENSP00000377862:H697R	ENSP00000377862:H697R	H	+	2	0	FAT4	126459106	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	4.443000	0.59994	0.844000	0.35094	0.533000	0.62120	CAC	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256765.2		+	ENST00000394329.3	Missense_Mutation	SNP	4 : 126239656 - 126239656 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	494	96
ATR	545	broad.mit.edu	37	3	142186836	142186836	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142186836C>T	ENST00000350721.4	-	39	6748	c.6627G>A	c.(6625-6627)gaG>gaA	p.E2209E	ATR_ENST00000383101.3_Silent_p.E2145E|RP11-383G6.3_ENST00000460977.1_RNA	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2209					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CAACAAACTTCTCTAAGGATT	0.353		NA						Other conserved DNA damage response genes						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	128	126			NA	NA	3		NA											NA				142186836		2202	4298	6500	SO:0001819	synonymous_variant			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054	545	545			882	protein-coding gene	gene with protein product	MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)	601215	ataxia telangiectasia and Rad3 related		NA	8978690, 8610130	Standard	NM_001184	NM_001184	NA	Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.6627G>A	3.37:g.142186836C>T		NA	Q59HB2|Q7KYL3|Q93051|Q9BXK4	37	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	8.292	0.817999	0.16607	.	.	ENSG00000175054	ENST00000513291	T	0.13538	2.58	5.84	1.08	0.20341	.	0.150804	0.64402	D	0.000014	T	0.08133	0.0203	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.18935	-1.0321	7	0.07030	T	0.85	-23.6448	9.963	0.41708	0.0:0.3146:0.0:0.6854	.	.	.	.	K	56	ENSP00000424355:E56K	ENSP00000424355:E56K	E	-	1	0	ATR	143669526	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.663000	0.25053	0.491000	0.27793	-0.229000	0.12294	GAA	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353995.2		-	ENST00000350721.4	Silent	SNP	3 : 142186836 - 142186836 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	454	31
FASTKD3	79072	broad.mit.edu	37	5	7861322	7861322	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7861322T>C	ENST00000264669.5	-	6	1960	c.1824A>G	c.(1822-1824)ttA>ttG	p.L608L	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_5'UTR	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	608	RAP.				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTTTCCCCAGTAAGTGTTTGC	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	135	135			NA	NA	5		NA											NA				7861322		2203	4300	6503	SO:0001819	synonymous_variant			AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279	79072	79072			28758	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024091	NM_024091	NA	Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.1824A>G	5.37:g.7861322T>C		NA	Q9BVD3	37	CCDS3873.1																																																																																			FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253673.1		-	ENST00000264669.5	Silent	SNP	5 : 7861322 - 7861322 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	719	136
MEGF8	1954	broad.mit.edu	37	19	42863068	42863068	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42863068G>T	ENST00000334370.4	+	29	5739	c.5104G>T	c.(5104-5106)Gga>Tga	p.G1702*	MEGF8_ENST00000251268.6_Nonsense_Mutation_p.G1769*	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1769						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TGCTGGTACAGGAGGTTTCCT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	48	48			NA	NA	19		NA											NA				42863068		2203	4299	6502	SO:0001587	stop_gained			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429	1954	1954			3233	protein-coding gene	gene with protein product	HBV pre s2 binding protein 1	604267	EGF-like-domain, multiple 4, chromosome 19 open reading frame 49	EGFL4, C19orf49	NA	9693030	Standard	NM_001410	NM_001410	NA	Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000334370.4:c.5104G>T	19.37:g.42863068G>T	ENSP00000334219:p.Gly1702*	NA	A8KAY0|O75097	37	CCDS12604.2	.	.	.	.	.	.	.	.	.	.	G	47	13.094293	0.99719	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	.	.	.	3.39	-0.167	0.13347	.	0.675623	0.12162	N	0.493866	.	.	.	.	.	.	0.18873	N	0.999986	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-0.0309	2.5615	0.04773	0.276:0.0:0.4938:0.2302	.	.	.	.	X	1702;1769	.	ENSP00000251268:G1769X	G	+	1	0	MEGF8	47554908	0.001000	0.12720	0.002000	0.10522	0.184000	0.23303	0.106000	0.15354	-0.048000	0.13401	0.462000	0.41574	GGA	MEGF8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317695.1		+	ENST00000334370.4	Nonsense_Mutation	SNP	19 : 42863068 - 42863068 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	118	26
CARD9	64170	broad.mit.edu	37	9	139262245	139262245	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139262245G>A	ENST00000371732.5	-	8	1278	c.1113C>T	c.(1111-1113)caC>caT	p.H371H	CARD9_ENST00000371734.3_Silent_p.H371H	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	371					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		GGCCCCGGGCGTGCTGTGCGT	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	2,4386	2.1+/-5.4	0,2,2192	30	27	28		1113,1113	-7.4	0	9		28	0,8576		0,0,4288	no	coding-synonymous,coding-synonymous	CARD9	NM_052813.4,NM_052814.3	,	0,2,6480	AA,AG,GG	NA	0.0,0.0456,0.0154	,	371/537,371/493	139262245	2,12962	2194	4288	6482	SO:0001819	synonymous_variant			AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796	64170	64170			16391	protein-coding gene	gene with protein product		607212			NA	11053425	Standard	NM_052813	NM_052813	NA	Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.1113C>T	9.37:g.139262245G>A		NA	Q5SXM6|Q9H854	37	CCDS6997.1																																																																																			CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055053.1		-	ENST00000371732.5	Silent	SNP	9 : 139262245 - 139262245 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	193	42
SLC5A7	60482	broad.mit.edu	37	2	108622641	108622641	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:108622641C>A	ENST00000264047.2	+	7	1154	c.878C>A	c.(877-879)gCc>gAc	p.A293D	SLC5A7_ENST00000540517.1_Missense_Mutation_p.A188D|SLC5A7_ENST00000409059.1_Missense_Mutation_p.A293D	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	293					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CTCATTGGGGCCATTGGAGCA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	94	96			NA	NA	2		NA											NA				108622641		2203	4300	6503	SO:0001583	missense			AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665	60482	60482		Solute carriers	14025	protein-coding gene	gene with protein product		608761	solute carrier family 5 (choline transporter), member 7		NA	11027560	Standard		NM_021815	NA	Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.878C>A	2.37:g.108622641C>A	ENSP00000264047:p.Ala293Asp	NA	Q53TF2	37	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023063	0.75275	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.88201	-2.35;-2.35;-2.35	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.95950	0.8681	M	0.92122	3.275	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	D	0.95437	0.8522	10	0.45353	T	0.12	-21.0254	19.8703	0.96847	0.0:1.0:0.0:0.0	.	293	Q9GZV3	SC5A7_HUMAN	D	293;188;293	ENSP00000387346:A293D;ENSP00000445351:A188D;ENSP00000264047:A293D	ENSP00000264047:A293D	A	+	2	0	SLC5A7	107989073	1.000000	0.71417	1.000000	0.80357	0.272000	0.26649	7.773000	0.85462	2.770000	0.95276	0.650000	0.86243	GCC	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253562.1		+	ENST00000264047.2	Missense_Mutation	SNP	2 : 108622641 - 108622641 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	617	43
MDN1	23195	broad.mit.edu	37	6	90455062	90455062	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90455062G>A	ENST00000369393.3	-	29	4223	c.4108C>T	c.(4108-4110)Cgg>Tgg	p.R1370W	MDN1_ENST00000428876.1_Missense_Mutation_p.R1370W			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1370					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCGAGTCTCCGCATGCCCTCA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	121	127			NA	NA	6		NA											NA				90455062		2203	4300	6503	SO:0001583	missense			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159	23195	23195			18302	protein-coding gene	gene with protein product					NA	9205841, 12102729	Standard		XM_005248699	NA	Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.4108C>T	6.37:g.90455062G>A	ENSP00000358400:p.Arg1370Trp	NA	O15019|Q5T794	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052747	0.55218	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.45276	0.9;0.9	5.87	4.0	0.46444	.	0.106693	0.64402	D	0.000008	T	0.58509	0.2127	M	0.88979	2.995	0.50313	D	0.999868	D	0.60575	0.988	P	0.62560	0.904	T	0.68773	-0.5320	10	0.59425	D	0.04	.	14.2802	0.66205	0.0:0.0:0.5168:0.4832	.	1370	Q9NU22	MDN1_HUMAN	W	1370	ENSP00000358400:R1370W;ENSP00000413970:R1370W	ENSP00000358400:R1370W	R	-	1	2	MDN1	90511783	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.944000	0.29043	1.456000	0.47831	0.655000	0.94253	CGG	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041514.2		-	ENST00000369393.3	Missense_Mutation	SNP	6 : 90455062 - 90455062 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	483	93
FOXF2	2295	broad.mit.edu	37	6	1390839	1390839	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:1390839G>A	ENST00000259806.1	+	1	771	c.657G>A	c.(655-657)tcG>tcA	p.S219S		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	219					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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 factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		TCGGGGCGTCGCTGCTGCCCC	0.746		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	13	12			NA	NA	6		NA											NA				1390839		2167	4250	6417	SO:0001819	synonymous_variant			U13220	CCDS4472.1	6p25.3	2008-04-10			ENSG00000137273	ENSG00000137273	2295	2295		Forkhead boxes	3810	protein-coding gene	gene with protein product		603250		FKHL6	NA	9799607, 7957066	Standard		NM_001452	NA	Approved	FREAC2	uc003mtm.3	Q12947	OTTHUMG00000016243	ENST00000259806.1:c.657G>A	6.37:g.1390839G>A		NA	Q5TGJ1|Q9UQ85	37	CCDS4472.1																																																																																			FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043558.1		+	ENST00000259806.1	Silent	SNP	6 : 1390839 - 1390839 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	203	28
ZNF417	147687	broad.mit.edu	37	19	58420404	58420404	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58420404C>T	ENST00000312026.5	-	3	1406	c.1242G>A	c.(1240-1242)ggG>ggA	p.G414G	ZNF417_ENST00000595559.1_Silent_p.G413G|CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000536263.1_Silent_p.G215G	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		TAAATGATTTCCCACATTCCT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	88	91			NA	NA	19		NA											NA				58420404		2203	4297	6500	SO:0001819	synonymous_variant			BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480	147687	147687		Zinc fingers, C2H2-type, -	20646	protein-coding gene	gene with protein product					NA		Standard	NM_152475	NM_152475	NA	Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.1242G>A	19.37:g.58420404C>T		NA		37	CCDS12965.1																																																																																			ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466860.1		-	ENST00000312026.5	Silent	SNP	19 : 58420404 - 58420404 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	727	132
SNPH	9751	broad.mit.edu	37	20	1286372	1286372	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1286372C>T	ENST00000381867.1	+	7	1933	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	SNPH_ENST00000381873.3_Missense_Mutation_p.R387W			O15079	SNPH_HUMAN	syntaphilin	387					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CACCCCACAGCGGCCTGGTGC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	26	26			NA	NA	20		NA											NA				1286372		2203	4295	6498	SO:0001583	missense				CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298	9751	9751			15931	protein-coding gene	gene with protein product		604942			NA	10707983	Standard	NM_014723	NM_014723	NA	Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381867.1:c.1291C>T	20.37:g.1286372C>T	ENSP00000371291:p.Arg431Trp	NA	Q8IYI3	37		.	.	.	.	.	.	.	.	.	.	C	14.18	2.459210	0.43634	.	.	ENSG00000101298	ENST00000381873;ENST00000381867	.	.	.	4.95	3.96	0.45880	.	1.804140	0.02557	N	0.096337	T	0.20251	0.0487	N	0.14661	0.345	0.18873	N	0.999989	D;P	0.54772	0.968;0.947	B;B	0.40101	0.319;0.319	T	0.18493	-1.0335	9	0.72032	D	0.01	-1.9986	5.3483	0.16022	0.1378:0.6267:0.15:0.0855	.	431;387	O15079-2;O15079	.;SNPH_HUMAN	W	387;431	.	ENSP00000371291:R431W	R	+	1	2	SNPH	1234372	0.000000	0.05858	0.225000	0.23894	0.954000	0.61252	0.420000	0.21263	2.572000	0.86782	0.561000	0.74099	CGG	SNPH-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000077516.1		+	ENST00000381867.1	Missense_Mutation	SNP	20 : 1286372 - 1286372 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	169	35
EIF4G3	8672	broad.mit.edu	37	1	21133870	21133870	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21133870G>A	ENST00000602326.1	-	35	5301	c.4718C>T	c.(4717-4719)tCt>tTt	p.S1573F	EIF4G3_ENST00000536266.1_Missense_Mutation_p.S1171F|EIF4G3_ENST00000537738.1_Missense_Mutation_p.S1057F|EIF4G3_ENST00000264211.8_Missense_Mutation_p.S1567F|EIF4G3_ENST00000374935.3_Missense_Mutation_p.S1287F|EIF4G3_ENST00000400422.1_Missense_Mutation_p.S1567F|EIF4G3_ENST00000374937.3_Missense_Mutation_p.S1573F	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1567	EIF4A-binding (By similarity).|Necessary but not sufficient for MKNK1- binding (By similarity).|W2.				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGCCGTGACAGATTTCAGAGC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													197	196	196			NA	NA	1		NA											NA				21133870		2203	4300	6503	SO:0001583	missense			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151	8672	8672			3298	protein-coding gene	gene with protein product		603929			NA	9418880	Standard	NM_003760	NM_001198801	NA	Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000602326.1:c.4718C>T	1.37:g.21133870G>A	ENSP00000473510:p.Ser1573Phe	NA	Q15597|Q5SWC3|Q8NEN1	37	CCDS55580.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505352	0.85282	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.6	5.6	0.85130	eIF4-gamma/eIF5/eIF2-epsilon (3);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	D	0.92424	0.7595	M	0.84846	2.72	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.993;0.996;0.999;1.0	D	0.93073	0.6484	10	0.87932	D	0	-15.8192	19.6136	0.95619	0.0:0.0:1.0:0.0	.	1762;1287;1171;1573;1567	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	F	1567;1763;1567;1287;1057;1573;1171	ENSP00000264211:S1567F;ENSP00000383274:S1567F;ENSP00000364071:S1287F;ENSP00000442010:S1057F;ENSP00000364073:S1573F;ENSP00000444693:S1171F	ENSP00000264211:S1567F	S	-	2	0	EIF4G3	21006457	1.000000	0.71417	0.860000	0.33809	0.995000	0.86356	9.835000	0.99442	2.641000	0.89580	0.585000	0.79938	TCT	EIF4G3-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000467634.1		-	ENST00000602326.1	Missense_Mutation	SNP	1 : 21133870 - 21133870 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	886	222
UMPS	7372	broad.mit.edu	37	3	124454055	124454055	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124454055T>C	ENST00000232607.2	+	2	378	c.272T>C	c.(271-273)aTt>aCt	p.I91T	UMPS_ENST00000538242.1_Intron|UMPS_ENST00000536109.1_5'UTR|UMPS_ENST00000413078.2_Intron	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	91	OPRTase.				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)		ACCAATCAAATTCCAATGCTT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	68	72			NA	NA	3		NA											NA				124454055		2203	4300	6503	SO:0001583	missense				CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	7372	7372	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	orotate phosphoribosyl transferase and orotidine-5'-decarboxylase	613891			NA	2767686	Standard	NM_000373	NM_000373	NA	Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.272T>C	3.37:g.124454055T>C	ENSP00000232607:p.Ile91Thr	NA	O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	37	CCDS3029.1	.	.	.	.	.	.	.	.	.	.	T	16.43	3.121934	0.56613	.	.	ENSG00000114491	ENST00000232607	T	0.72725	-0.68	5.22	5.22	0.72569	Phosphoribosyltransferase (1);	0.350832	0.30260	N	0.010038	T	0.62221	0.2410	L	0.35854	1.095	0.80722	D	1	B	0.24186	0.099	B	0.25405	0.06	T	0.58301	-0.7660	10	0.29301	T	0.29	-22.7445	15.253	0.73561	0.0:0.0:0.0:1.0	.	91	P11172	UMPS_HUMAN	T	91	ENSP00000232607:I91T	ENSP00000232607:I91T	I	+	2	0	UMPS	125936745	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	5.114000	0.64648	2.178000	0.69098	0.533000	0.62120	ATT	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355271.1		+	ENST00000232607.2	Missense_Mutation	SNP	3 : 124454055 - 124454055 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	188	29
BRMS1L	84312	broad.mit.edu	37	14	36295809	36295809	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36295809C>T	ENST00000216807.7	+	1	286	c.87C>T	c.(85-87)agC>agT	p.S29S	RP11-317N8.5_ENST00000555918.1_RNA|BRMS1L_ENST00000543183.1_5'UTR	NM_032352.3	NP_115728.2	Q5PSV4	BRM1L_HUMAN	breast cancer metastasis-suppressor 1-like	29					regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		AGGGGAGCAGCTCCGAGGACG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	60	69			NA	NA	14		NA											NA				36295809		2203	4300	6503	SO:0001819	synonymous_variant			AK096496	CCDS32066.1	14q13.1	2005-09-22	2003-12-02	2003-12-03		ENSG00000100916	84312	84312			20512	protein-coding gene	gene with protein product			breast cancer metastasis-suppressor 1	BRMS1	NA		Standard	NM_032352	XM_005268128	NA	Approved	MGC11296, FLJ39177	uc001wtl.3	Q5PSV4		ENST00000216807.7:c.87C>T	14.37:g.36295809C>T		NA	A6NFW5|A6NH45|Q9BRI4	37	CCDS32066.1																																																																																			BRMS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409601.2		+	ENST00000216807.7	Silent	SNP	14 : 36295809 - 36295809 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	101	16
UBASH3A	53347	broad.mit.edu	37	21	43846890	43846890	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43846890A>G	ENST00000319294.6	+	8	1162	c.1131A>G	c.(1129-1131)ccA>ccG	p.P377P	UBASH3A_ENST00000291535.6_Silent_p.P339P|UBASH3A_ENST00000398367.1_Silent_p.P339P	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	377						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						AATTTCTTCCACAAACGGCAA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	102	106			NA	NA	21		NA											NA				43846890		2203	4300	6503	SO:0001819	synonymous_variant			AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185	53347	53347			12462	protein-coding gene	gene with protein product		605736			NA	11281453	Standard	NM_001001895	NM_018961	NA	Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.1131A>G	21.37:g.43846890A>G		NA	Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	37	CCDS13687.1																																																																																			UBASH3A-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195382.1		+	ENST00000319294.6	Silent	SNP	21 : 43846890 - 43846890 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	411	88
NUDT19	390916	broad.mit.edu	37	19	33183175	33183175	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33183175G>A	ENST00000397061.3	+	1	309	c.309G>A	c.(307-309)tcG>tcA	p.S103S		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	103	Nudix hydrolase.					mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					CTTTCCCGTCGCTGCCCGACA	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	24	23			NA	NA	19		NA											NA				33183175		2101	4210	6311	SO:0001819	synonymous_variant				CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965	390916	390916		Nudix motif containing	32036	protein-coding gene	gene with protein product					NA		Standard	XM_372723	NM_001105570	NA	Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.309G>A	19.37:g.33183175G>A		NA		37	CCDS42543.1																																																																																			NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450338.3		+	ENST00000397061.3	Silent	SNP	19 : 33183175 - 33183175 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	365	66
PCDHGB1	56104	broad.mit.edu	37	5	140730352	140730352	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140730352C>A	ENST00000523390.1	+	1	525	c.525C>A	c.(523-525)ttC>ttA	p.F175L	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1			protocadherin gamma subfamily B, 1	NA										central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCAATACTTCTCTCTGTCAA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													196	191	193			NA	NA	5		NA											NA				140730352		1880	4114	5994	SO:0001583	missense			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221	56104	56104		Cadherins / Protocadherins : Clustered	8708	other	protocadherin	protocadherin gamma subfamily B, 1, isoform 2	606299			NA	10380929	Standard	NM_018922	NM_018922	NA	Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.525C>A	5.37:g.140730352C>A	ENSP00000429273:p.Phe175Leu	NA		37	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	18.17	3.564044	0.65651	.	.	ENSG00000254221	ENST00000523390	T	0.70749	-0.51	5.36	3.49	0.39957	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.88559	0.6469	H	0.97214	3.96	0.28420	N	0.917755	D;D	0.89917	1.0;0.984	D;D	0.80764	0.994;0.923	T	0.82263	-0.0544	9	0.87932	D	0	.	10.6944	0.45890	0.0:0.8366:0.0:0.1634	.	175;175	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	L	175	ENSP00000429273:F175L	ENSP00000429273:F175L	F	+	3	2	PCDHGB1	140710536	0.000000	0.05858	0.989000	0.46669	0.934000	0.57294	-0.549000	0.06041	1.324000	0.45282	0.563000	0.77884	TTC	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374740.1		+	ENST00000523390.1	Missense_Mutation	SNP	5 : 140730352 - 140730352 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1338	125
PDE6B	5158	broad.mit.edu	37	4	661780	661780	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:661780G>A	ENST00000255622.6	+	21	2531	c.2488G>A	c.(2488-2490)Gtg>Atg	p.V830M	PDE6B_ENST00000496514.1_Missense_Mutation_p.V830M|PDE6B_ENST00000429163.2_Missense_Mutation_p.V551M	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	830					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GGAGGAGAGGGTGGCAGCCAA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(71;463 1194 9848 25922 46834)							NA				0													78	85	82			NA	NA	4		NA											NA				661780		2203	4300	6503	SO:0001583	missense			BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	5158	5158	3.1.4.17	Phosphodiesterases	8786	protein-coding gene	gene with protein product	congenital stationary night blindness 3, autosomal dominant	180072		PDEB	NA	1313787	Standard	NM_000283	NM_001145292	NA	Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000255622.6:c.2488G>A	4.37:g.661780G>A	ENSP00000255622:p.Val830Met	NA	Q53XN5|Q9BWH5|Q9UD49	37	CCDS54703.1	.	.	.	.	.	.	.	.	.	.	g	7.518	0.656106	0.14580	.	.	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000429163	T;T;T	0.66280	-0.05;-0.04;-0.2	4.23	-3.38	0.04883	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	1.289310	0.05632	N	0.581881	T	0.34658	0.0905	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.13407	0.004;0.009	T	0.23154	-1.0196	10	0.48119	T	0.1	.	5.6111	0.17406	0.3723:0.3678:0.2599:0.0	.	830;830	P35913;P35913-2	PDE6B_HUMAN;.	M	830;830;551	ENSP00000255622:V830M;ENSP00000420295:V830M;ENSP00000406334:V551M	ENSP00000255622:V830M	V	+	1	0	PDE6B	651780	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.160000	0.16462	-0.301000	0.08882	-0.856000	0.03024	GTG	PDE6B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358108.1		+	ENST00000255622.6	Missense_Mutation	SNP	4 : 661780 - 661780 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	699	124
CCNA2	890	broad.mit.edu	37	4	122743779	122743779	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122743779G>T	ENST00000274026.5	-	2	539	c.236C>A	c.(235-237)cCt>cAt	p.P79H		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	79					cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						ATCATTTACAGGAAGATCCTT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	90	90			NA	NA	4		NA											NA				122743779		2203	4300	6503	SO:0001583	missense				CCDS3723.1	4q27	2012-07-12			ENSG00000145386	ENSG00000145386	890	890			1578	protein-coding gene	gene with protein product		123835		CCNA, CCN1	NA	1675006	Standard	NM_001237	NM_001237	NA	Approved		uc003iec.4	P20248	OTTHUMG00000133072	ENST00000274026.5:c.236C>A	4.37:g.122743779G>T	ENSP00000274026:p.Pro79His	NA	A8K7B6|Q2M3U6|Q4W5P4|Q6LER8	37	CCDS3723.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.048425	0.55110	.	.	ENSG00000145386	ENST00000274026	T	0.15256	2.44	5.74	3.97	0.46021	.	.	.	.	.	T	0.16342	0.0393	L	0.47716	1.5	0.25614	N	0.986468	B	0.22800	0.075	B	0.21151	0.033	T	0.13737	-1.0498	9	0.59425	D	0.04	.	8.5659	0.33538	0.0798:0.2876:0.6326:0.0	.	79	P20248	CCNA2_HUMAN	H	79	ENSP00000274026:P79H	ENSP00000274026:P79H	P	-	2	0	CCNA2	122963229	0.862000	0.29867	0.990000	0.47175	0.996000	0.88848	1.584000	0.36589	1.392000	0.46585	0.655000	0.94253	CCT	CCNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256712.2		-	ENST00000274026.5	Missense_Mutation	SNP	4 : 122743779 - 122743779 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	548	96
FKRP	79147	broad.mit.edu	37	19	47259280	47259280	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47259280C>T	ENST00000318584.5	+	4	870	c.573C>T	c.(571-573)tgC>tgT	p.C191C	FKRP_ENST00000391909.3_Silent_p.C191C|FKRP_ENST00000600646.1_Intron	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	191						extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		CGCCCCGCTGCGACGCCCTGG	0.741		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													4	5	5			NA	NA	19		NA											NA				47259280		1924	3799	5723	SO:0001819	synonymous_variant			AJ314847	CCDS12691.1	19q13.32	2014-09-17			ENSG00000181027	ENSG00000181027	79147	79147			17997	protein-coding gene	gene with protein product		606596			NA	11592034, 11741828	Standard	NM_024301	NM_024301	NA	Approved	LGMD2I, MDC1C	uc002pfp.2	Q9H9S5		ENST00000318584.5:c.573C>T	19.37:g.47259280C>T		NA	A8K5G7	37	CCDS12691.1																																																																																			FKRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465473.1		+	ENST00000318584.5	Silent	SNP	19 : 47259280 - 47259280 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	59	15
PRND	23627	broad.mit.edu	37	20	4705663	4705663	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:4705663C>T	ENST00000305817.2	+	2	537	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	156					protein homooligomerization	anchored to membrane|plasma membrane				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						CGCAGGACTTCGGGTCACCAT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	34	34			NA	NA	20		NA											NA				4705663		2203	4300	6503	SO:0001583	missense			AF106918	CCDS13081.1	20p13	2013-09-19			ENSG00000171864	ENSG00000171864	23627	23627			15748	protein-coding gene	gene with protein product	prion-like protein doppel	604263			NA	10525406, 10577243	Standard	NM_012409	NM_012409	NA	Approved	DPL, dJ1068H6.4, DOPPEL, PrPLP	uc002wkz.3	Q9UKY0	OTTHUMG00000031789	ENST00000305817.2:c.466C>T	20.37:g.4705663C>T	ENSP00000306900:p.Arg156Trp	NA	A7U7M5|Q9H311|Q9H312|Q9NTM4	37	CCDS13081.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.643659	0.29246	.	.	ENSG00000171864	ENST00000305817	D	0.89552	-2.53	4.7	1.64	0.23874	Prion/Doppel protein, beta-ribbon domain (1);	0.620637	0.13289	N	0.399160	D	0.82435	0.5036	L	0.49126	1.545	0.09310	N	1	B	0.26975	0.165	B	0.19946	0.027	T	0.71679	-0.4520	10	0.56958	D	0.05	-19.0496	4.3118	0.10974	0.1797:0.6246:0.0:0.1957	.	156	Q9UKY0	PRND_HUMAN	W	156	ENSP00000306900:R156W	ENSP00000306900:R156W	R	+	1	2	PRND	4653663	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.451000	0.21779	0.141000	0.18875	0.557000	0.71058	CGG	PRND-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077827.2		+	ENST00000305817.2	Missense_Mutation	SNP	20 : 4705663 - 4705663 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	307	19
EBPL	84650	broad.mit.edu	37	13	50237284	50237284	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50237284T>C	ENST00000378284.2	-	3	327	c.289A>G	c.(289-291)Acc>Gcc	p.T97A	EBPL_ENST00000378272.5_Intron|EBPL_ENST00000378270.5_Intron|EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378282.5_Missense_Mutation_p.T91A|EBPL_ENST00000242827.6_Missense_Mutation_p.T97A	NM_001278636.1	NP_001265565.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	97					sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity			endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		GACACAATGGTTGGATCAAAA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(39;857 1083 36109 42364 51411)							NA				0													140	122	128			NA	NA	13		NA											NA				50237284		2203	4300	6503	SO:0001583	missense			AF243433	CCDS9420.1, CCDS61334.1	13q12-q13	2008-02-05			ENSG00000123179	ENSG00000123179	84650	84650			18061	protein-coding gene	gene with protein product					NA		Standard	NM_032565	NM_032565	NA	Approved	EBRP	uc001vdg.3	Q9BY08	OTTHUMG00000016920	ENST00000378284.2:c.289A>G	13.37:g.50237284T>C	ENSP00000367533:p.Thr97Ala	NA	A6NJ59|Q569H7|Q5JVN2|Q5JVN3|Q5JVN4|Q5JVN5|Q5JVN6	37		.	.	.	.	.	.	.	.	.	.	T	15.76	2.929148	0.52759	.	.	ENSG00000123179	ENST00000378284;ENST00000242827;ENST00000378282	D;D	0.97906	-4.6;-4.6	5.9	4.64	0.57946	.	0.231295	0.41938	N	0.000799	D	0.97084	0.9047	L	0.56280	1.765	0.80722	D	1	D	0.63046	0.992	P	0.59056	0.851	D	0.94759	0.7934	10	0.16896	T	0.51	-7.7929	9.3337	0.38038	0.0:0.1056:0.0:0.8944	.	97	Q9BY08	EBPL_HUMAN	A	91;97;91	ENSP00000242827:T97A;ENSP00000367531:T91A	ENSP00000242827:T97A	T	-	1	0	EBPL	49135285	0.999000	0.42202	0.025000	0.17156	0.902000	0.53008	3.147000	0.50639	0.941000	0.37499	0.454000	0.30748	ACC	EBPL-001	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000044931.3		-	ENST00000378284.2	Missense_Mutation	SNP	13 : 50237284 - 50237284 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	543	129
ZNF490	57474	broad.mit.edu	37	19	12694290	12694290	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12694290G>A	ENST00000311437.6	-	3	365	c.243C>T	c.(241-243)atC>atT	p.I81I		NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	81	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						CATCTCTGTAGATATTCCTCT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	113	114			NA	NA	19		NA											NA				12694290		2203	4300	6503	SO:0001819	synonymous_variant			AB033024	CCDS12272.1	19p13.2	2013-01-08			ENSG00000188033	ENSG00000188033	57474	57474		Zinc fingers, C2H2-type, -	23705	protein-coding gene	gene with protein product					NA		Standard	NM_020714	NM_020714	NA	Approved	KIAA1198	uc002mtz.2	Q9ULM2	OTTHUMG00000156398	ENST00000311437.6:c.243C>T	19.37:g.12694290G>A		NA		37	CCDS12272.1																																																																																			ZNF490-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344073.1		-	ENST00000311437.6	Silent	SNP	19 : 12694290 - 12694290 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	657	27
MFHAS1	9258	broad.mit.edu	37	8	8654933	8654933	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:8654933G>A	ENST00000276282.6	-	2	3653	c.3067C>T	c.(3067-3069)Cga>Tga	p.R1023*	MFHAS1_ENST00000520091.1_5'UTR	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	1023										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		ACATTTACTCGCTCGCTGCCG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(103;1201 2045 17515 28966)							NA				0													124	94	104			NA	NA	8		NA											NA				8654933		2203	4300	6503	SO:0001587	stop_gained			AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324	9258	9258			16982	protein-coding gene	gene with protein product	leucine rich repeat containing 65, malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1	605352			NA	9973190	Standard	NM_004225	NM_004225	NA	Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.3067C>T	8.37:g.8654933G>A	ENSP00000276282:p.Arg1023*	NA	Q96CI0	37	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	G	47	13.657551	0.99755	.	.	ENSG00000147324	ENST00000276282	.	.	.	5.73	3.86	0.44501	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	14.1014	0.65059	0.0:0.0:0.7402:0.2598	.	.	.	.	X	1023	.	ENSP00000276282:R1023X	R	-	1	2	MFHAS1	8692343	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.290000	0.78711	0.705000	0.31890	0.551000	0.68910	CGA	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374724.2		-	ENST00000276282.6	Nonsense_Mutation	SNP	8 : 8654933 - 8654933 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	236	40
TNNI2	7136	broad.mit.edu	37	11	1862070	1862070	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1862070G>A	ENST00000381906.1	+	6	277	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	TNNI2_ENST00000252898.7_Missense_Mutation_p.A70T|TNNI2_ENST00000381911.1_Missense_Mutation_p.A70T|TNNI2_ENST00000381905.3_Missense_Mutation_p.A70T	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	70					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACAGCTGCACGCCAAGATCGA	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	52	56			NA	NA	11		NA											NA				1862070		2199	4297	6496	SO:0001583	missense			L21715	CCDS31333.1, CCDS53594.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130598	ENSG00000130598	7136	7136			11946	protein-coding gene	gene with protein product	troponin I, fast-twitch skeletal muscle isoform, troponin I fast twitch 2	191043	troponin I, skeletal, fast, arthrogryposis multiplex congenita, distal, type 2B	AMCD2B	NA	9016781, 12592607	Standard	NM_003282	NM_001145829	NA	Approved	FSSV, DA2B	uc010qxe.1	P48788	OTTHUMG00000012253	ENST00000381906.1:c.208G>A	11.37:g.1862070G>A	ENSP00000371331:p.Ala70Thr	NA	A6NJU5	37	CCDS31333.1	.	.	.	.	.	.	.	.	.	.	g	11.26	1.585488	0.28268	.	.	ENSG00000130598	ENST00000381911;ENST00000381906;ENST00000252898;ENST00000381905	D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1	2.67	2.67	0.31697	.	0.393040	0.28176	N	0.016318	D	0.94535	0.8240	M	0.62016	1.91	0.36625	D	0.875959	D;P	0.76494	0.999;0.858	D;B	0.75484	0.986;0.107	D	0.95585	0.8650	10	0.48119	T	0.1	-2.6848	14.4828	0.67594	0.0:0.0:1.0:0.0	.	70;70	A6NIV8;P48788	.;TNNI2_HUMAN	T	70	ENSP00000371336:A70T;ENSP00000371331:A70T;ENSP00000252898:A70T;ENSP00000371330:A70T	ENSP00000252898:A70T	A	+	1	0	TNNI2	1818646	0.010000	0.17322	0.999000	0.59377	0.339000	0.28857	0.353000	0.20130	1.812000	0.52913	0.205000	0.17691	GCC	TNNI2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034046.2		+	ENST00000381906.1	Missense_Mutation	SNP	11 : 1862070 - 1862070 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	147	6
VARS	7407	broad.mit.edu	37	6	31749480	31749480	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31749480G>T	ENST00000375663.3	-	20	2846	c.2406C>A	c.(2404-2406)ggC>ggA	p.G802G	VARS_ENST00000482996.1_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	802					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GGTTGGGCCAGCCCAAAATGG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	45	44			NA	NA	6		NA											NA				31749480		1509	2708	4217	SO:0001819	synonymous_variant			BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	7407	7407	6.1.1.9	Aminoacyl tRNA synthetases / Class I	12651	protein-coding gene	gene with protein product	valine tRNA ligase 1, cytoplasmic	192150	valyl-tRNA synthetase 2	VARS2	NA	15779907	Standard	NM_006295	XM_005249362	NA	Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.2406C>A	6.37:g.31749480G>T		NA	B0V1N1|Q5JQ90|Q96E77|Q9UQM2	37	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	G	7.077	0.569406	0.13560	.	.	ENSG00000204394	ENST00000428445	.	.	.	5.64	3.61	0.41365	.	.	.	.	.	T	0.58264	0.2110	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59716	-0.7402	4	.	.	.	-24.8287	13.7946	0.63164	0.0:0.0:0.712:0.288	.	.	.	.	M	120	.	.	L	-	1	2	VARS	31857459	0.970000	0.33590	1.000000	0.80357	0.791000	0.44710	-0.035000	0.12205	1.333000	0.45449	0.655000	0.94253	CTG	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076619.2		-	ENST00000375663.3	Silent	SNP	6 : 31749480 - 31749480 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	335	53
NOTCH4	4855	broad.mit.edu	37	6	32164146	32164146	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32164146G>A	ENST00000375023.3	-	29	5391	c.5253C>T	c.(5251-5253)cgC>cgT	p.R1751R	NOTCH4_ENST00000443903.2_Intron	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1751					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGAGAAGCGAGCGGGCGGCTC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	135	129			NA	NA	6		NA											NA				32164146		1509	2708	4217	SO:0001819	synonymous_variant				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301	4855	4855		Ankyrin repeat domain containing	7884	protein-coding gene	gene with protein product		164951	Notch (Drosophila) homolog 4, Notch homolog 4 (Drosophila)	INT3	NA	7835890	Standard		NM_004557	NA	Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5253C>T	6.37:g.32164146G>A		NA	B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	37	CCDS34420.1																																																																																			NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076045.2		-	ENST00000375023.3	Silent	SNP	6 : 32164146 - 32164146 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1113	187
TPPP3	51673	broad.mit.edu	37	16	67424128	67424128	+	Silent	SNP	G	G	A	rs150292483		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67424128G>A	ENST00000564104.1	-	3	1321	c.480C>T	c.(478-480)taC>taT	p.Y160Y	TPPP3_ENST00000393957.2_Silent_p.Y160Y|TPPP3_ENST00000562206.1_Silent_p.Y160Y|TPPP3_ENST00000290942.5_Silent_p.Y160Y			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3	160					microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		AGGCGCTCACGTAGCCACTGT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0									,	0,4396		0,0,2198	113	88	97		480,480	-3.5	1	16	dbSNP_134	97	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TPPP3	NM_015964.2,NM_016140.2	,	0,1,6497	AA,AG,GG	NA	0.0116,0.0,0.0077	,	160/177,160/177	67424128	1,12995	2198	4300	6498	SO:0001819	synonymous_variant			BC000691	CCDS10835.1	16q22.1	2008-02-05			ENSG00000159713	ENSG00000159713	51673	51673			24162	protein-coding gene	gene with protein product					NA	15590652, 17105200	Standard	NM_015964	XM_005255979	NA	Approved	CGI-38, p25gamma, p20	uc002etb.3	Q9BW30	OTTHUMG00000137516	ENST00000564104.1:c.480C>T	16.37:g.67424128G>A		NA	Q49AH9|Q9Y326|Q9Y6H0	37	CCDS10835.1																																																																																			TPPP3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421787.2		-	ENST00000564104.1	Silent	SNP	16 : 67424128 - 67424128 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	418	43
KRTAP19-8	728299	broad.mit.edu	37	21	32410635	32410635	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32410635C>T	ENST00000382822.2	-	1	160	c.128G>A	c.(127-129)gGc>gAc	p.G43D		NM_001099219.1	NP_001092689.1	Q3LI54	KR198_HUMAN	keratin associated protein 19-8	43						intermediate filament				endometrium(2)|upper_aerodigestive_tract(1)	3						GAATCCATAGCCTCCGTAGCC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	109	103			NA	NA	21		NA											NA				32410635		2203	4300	6503	SO:0001583	missense			AB096964	CCDS42917.1	21q22.11	2007-11-23			ENSG00000206102	ENSG00000206102	728299	728299		Keratin associated proteins	33898	protein-coding gene	gene with protein product					NA		Standard	NM_001099219	NM_001099219	NA	Approved		uc010glt.3	Q3LI54	OTTHUMG00000057787	ENST00000382822.2:c.128G>A	21.37:g.32410635C>T	ENSP00000372272:p.Gly43Asp	NA		37	CCDS42917.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.296427	0.23650	.	.	ENSG00000206102	ENST00000382822	T	0.21031	2.03	4.05	3.14	0.36123	.	.	.	.	.	T	0.38639	0.1048	.	.	.	0.20563	N	0.999883	D	0.71674	0.998	D	0.65573	0.936	T	0.10337	-1.0634	8	0.87932	D	0	.	6.9701	0.24644	0.0:0.8686:0.0:0.1314	.	43	Q3LI54	KR198_HUMAN	D	43	ENSP00000372272:G43D	ENSP00000372272:G43D	G	-	2	0	KRTAP19-8	31332506	0.002000	0.14202	0.432000	0.26747	0.146000	0.21551	-0.033000	0.12246	1.009000	0.39289	0.505000	0.49811	GGC	KRTAP19-8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128239.3		-	ENST00000382822.2	Missense_Mutation	SNP	21 : 32410635 - 32410635 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	889	85
C8orf86	389649	broad.mit.edu	37	8	38369971	38369971	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38369971G>A	ENST00000358138.1	-	3	630	c.606C>T	c.(604-606)acC>acT	p.T202T	C8orf86_ENST00000437935.2_3'UTR	NM_207412.1	NP_997295.1	Q6ZUL3	CH086_HUMAN	chromosome 8 open reading frame 86	202										breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						cccaccccagggtttctaatt	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	51	50			NA	NA	8		NA											NA				38369971		2203	4300	6503	SO:0001819	synonymous_variant			BC137511	CCDS6108.1	8p12-p11.23	2009-03-03			ENSG00000196166	ENSG00000196166	389649	389649			33774	protein-coding gene	gene with protein product					NA		Standard	NM_207412	NM_207412	NA	Approved	FLJ43582	uc003xlx.1	Q6ZUL3	OTTHUMG00000163992	ENST00000358138.1:c.606C>T	8.37:g.38369971G>A		NA	A4QPB7	37	CCDS6108.1																																																																																			C8orf86-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376668.1		-	ENST00000358138.1	Silent	SNP	8 : 38369971 - 38369971 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	376	72
CTBP2	1488	broad.mit.edu	37	10	126715800	126715800	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:126715800G>A	ENST00000309035.6	-	1	659	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W	CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000411419.2_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	0					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		TGTGTCTGCCGCCCCTGAGGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	33	33			NA	NA	10		NA											NA				126715800		2202	4300	6502	SO:0001583	missense			AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029	1488	1488			2495	protein-coding gene	gene with protein product		602619			NA	9479502, 11864595	Standard	NM_001083914	NM_022802	NA	Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000309035.6:c.529C>T	10.37:g.126715800G>A	ENSP00000311825:p.Arg177Trp	NA	A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	37	CCDS7644.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029432	0.54790	.	.	ENSG00000175029	ENST00000309035	D	0.83075	-1.68	4.3	4.3	0.51218	.	0.432624	0.19969	N	0.102040	T	0.82157	0.4976	.	.	.	0.80722	D	1	D	0.54964	0.969	B	0.43123	0.409	D	0.86056	0.1529	9	0.87932	D	0	.	17.331	0.87264	0.0:0.0:1.0:0.0	.	177	P56545-2	.	W	177	ENSP00000311825:R177W	ENSP00000311825:R177W	R	-	1	2	CTBP2	126705790	1.000000	0.71417	0.464000	0.27143	0.645000	0.38454	9.333000	0.96459	2.409000	0.81822	0.655000	0.94253	CGG	CTBP2-006	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050905.1		-	ENST00000309035.6	Missense_Mutation	SNP	10 : 126715800 - 126715800 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	412	77
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74737313	74737313	+	Missense_Mutation	SNP	A	A	G	rs143283898		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:74737313A>G	ENST00000370899.3	+	7	705	c.668A>G	c.(667-669)cAc>cGc	p.H223R	FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.H236R|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.H223R|TNNI3K_ENST00000326637.3_Missense_Mutation_p.H122R|TNNI3K_ENST00000370891.2_Missense_Mutation_p.H223R	NM_001199327.1	NP_001186256	Q59H18	TNI3K_HUMAN	FPGT-TNNI3K readthrough	122						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding				NA						TCTCTGCTTCACAGTGGAGCT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													212	202	205			NA	NA	1		NA											NA				74737313		2203	4299	6502	SO:0001583	missense					1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030	100526835	100526835			42952	other	readthrough					NA		Standard		NM_001112808	NA	Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.668A>G	1.37:g.74737313A>G	ENSP00000359936:p.His223Arg	NA	Q17RN0|Q49AR1|Q6MZS9|Q9Y2V6	37		.	.	.	.	.	.	.	.	.	.	A	19.24	3.789224	0.70337	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	5.92	5.92	0.95590	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.27205	0.0667	N	0.03967	-0.31	0.58432	D	0.999994	P;D;P;D	0.57899	0.569;0.968;0.802;0.981	B;B;B;B	0.44163	0.442;0.33;0.33;0.443	T	0.26430	-1.0103	10	0.21540	T	0.41	.	15.3456	0.74334	1.0:0.0:0.0:0.0	.	122;223;223;223	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	R	223;223;223;223;122	ENSP00000359936:H223R;ENSP00000359932:H223R;ENSP00000450895:H223R;ENSP00000359928:H223R;ENSP00000322251:H122R	ENSP00000322251:H122R	H	+	2	0	RP11-653A5.2;AC093158.1	74509901	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.896000	0.69822	2.266000	0.75297	0.533000	0.62120	CAC	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000026438.3		+	ENST00000370899.3	Missense_Mutation	SNP	1 : 74737313 - 74737313 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	677	22
CDYL	9425	broad.mit.edu	37	6	4892303	4892303	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:4892303C>A	ENST00000328908.5	+	4	674	c.543C>A	c.(541-543)ctC>ctA	p.L181L	CDYL_ENST00000397588.3_Silent_p.L127L|CDYL_ENST00000343762.5_5'UTR|CDYL_ENST00000449732.2_5'UTR|CDYL_ENST00000472453.1_Intron			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	181					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CTCCATCTCTCTCCAGCCGGA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	88	87			NA	NA	6		NA											NA				4892303		2203	4300	6503	SO:0001819	synonymous_variant			AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046	9425	9425			1811	protein-coding gene	gene with protein product	CDY-like, autosomal, testis-specific chromodomain Y-like protein	603778	chromodomain protein, Y chromosome-like		NA	10192397	Standard	NM_004824	NM_001143970	NA	Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.543C>A	6.37:g.4892303C>A		NA	A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	37																																																																																				CDYL-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000039736.1		+	ENST00000328908.5	Silent	SNP	6 : 4892303 - 4892303 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	513	112
AASDH	132949	broad.mit.edu	37	4	57244420	57244420	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57244420G>T	ENST00000510762.1	-	0	307				AASDH_ENST00000513376.1_Missense_Mutation_p.L88I|AASDH_ENST00000205214.6_Missense_Mutation_p.L188I|AASDH_ENST00000502617.1_Missense_Mutation_p.L188I|AASDH_ENST00000451613.1_Missense_Mutation_p.L188I|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000602986.1_Missense_Mutation_p.L35I			Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	NA					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CAATGCTTTAGCCTCAGATCC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													203	169	181			NA	NA	4		NA											NA				57244420		2203	4300	6503	SO:0001623	5_prime_UTR_variant			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	132949	132949	1.2.1.31	Acyl-CoA synthetase family	23993	protein-coding gene	gene with protein product	acyl-CoA synthetase family member 4	614365			NA	15865210, 12712191, 17762044	Standard	NM_181806	XM_005265721	NA	Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000510762.1:c.-231C>A	4.37:g.57244420G>T		NA	A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	37		.	.	.	.	.	.	.	.	.	.	G	9.060	0.994318	0.19043	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T	0.49432	0.78;1.01;2.85;0.78	5.95	1.76	0.24704	AMP-dependent synthetase/ligase (1);	2.018060	0.02117	N	0.055319	T	0.47414	0.1444	L	0.52011	1.625	0.09310	N	1	B;P;B;B	0.36125	0.279;0.538;0.396;0.45	B;B;B;B	0.35859	0.053;0.178;0.192;0.212	T	0.46610	-0.9179	10	0.37606	T	0.19	2.3294	12.1516	0.54053	0.0746:0.5225:0.4029:0.0	.	35;188;188;188	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	I	188;88;188;35;188	ENSP00000205214:L188I;ENSP00000423760:L88I;ENSP00000409656:L188I;ENSP00000421171:L188I	ENSP00000205214:L188I	L	-	1	2	AASDH	56939177	0.001000	0.12720	0.050000	0.19076	0.453000	0.32348	0.815000	0.27253	0.827000	0.34685	-0.175000	0.13238	CTA	AASDH-007	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000362435.1		-	ENST00000510762.1	5'UTR	SNP	4 : 57244420 - 57244420 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	454	114
CAMK4	814	broad.mit.edu	37	5	110818547	110818547	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:110818547C>T	ENST00000282356.4	+	10	1291	c.893C>T	c.(892-894)cCg>cTg	p.P298L	CAMK4_ENST00000512453.1_Missense_Mutation_p.P298L|CAMK4_ENST00000512890.1_3'UTR	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	298	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		CTCCAGCATCCGTGGGTCACA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	93	93			NA	NA	5		NA											NA				110818547		2202	4300	6502	SO:0001583	missense			D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	814	814	2.7.11.17		1464	protein-coding gene	gene with protein product	brain Ca++-calmodulin-dependent protein kinase type IV, calcium/calmodulin-dependent protein kinase type IV catalytic chain, CAM kinase IV, CAM kinase- GR	114080			NA	2536634	Standard	NM_001744	NM_001744	NA	Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.893C>T	5.37:g.110818547C>T	ENSP00000282356:p.Pro298Leu	NA	D3DSZ7	37	CCDS4103.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977222	0.92982	.	.	ENSG00000152495	ENST00000512453;ENST00000282356	T;T	0.56941	0.43;0.43	5.33	5.33	0.75918	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81302	0.4794	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86752	0.1961	10	0.87932	D	0	.	19.0311	0.92957	0.0:1.0:0.0:0.0	.	298	Q16566	KCC4_HUMAN	L	298	ENSP00000422634:P298L;ENSP00000282356:P298L	ENSP00000282356:P298L	P	+	2	0	CAMK4	110846446	1.000000	0.71417	0.969000	0.41365	0.987000	0.75469	7.388000	0.79795	2.482000	0.83794	0.563000	0.77884	CCG	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250719.2		+	ENST00000282356.4	Missense_Mutation	SNP	5 : 110818547 - 110818547 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	550	103
SPTBN4	57731	broad.mit.edu	37	19	41062025	41062025	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41062025G>A	ENST00000352632.3	+	25	5206	c.5120G>A	c.(5119-5121)cGc>cAc	p.R1707H	SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1707H|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1707H|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1707H|SPTBN4_ENST00000392025.1_Missense_Mutation_p.R450H|SPTBN4_ENST00000392023.1_Missense_Mutation_p.R383H			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1707					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGGTGGACCGCCTGTACGTG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	30	30			NA	NA	19		NA											NA				41062025		2203	4300	6503	SO:0001583	missense			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460	57731	57731		Pleckstrin homology (PH) domain containing	14896	protein-coding gene	gene with protein product		606214			NA	11086001	Standard		NM_020971	NA	Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5120G>A	19.37:g.41062025G>A	ENSP00000263373:p.Arg1707His	NA	Q9H1K7|Q9H1K8|Q9H1K9|Q9H3G8|Q9HCD0	37	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509478	0.85282	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	4.29	4.29	0.51040	.	0.000000	0.64402	D	0.000004	T	0.64103	0.2568	L	0.54323	1.7	0.38876	D	0.956803	D;D;D;D	0.89917	1.0;0.971;1.0;1.0	D;P;D;D	0.91635	0.997;0.576;0.999;0.993	T	0.70346	-0.4897	10	0.87932	D	0	.	15.682	0.77376	0.0:0.0:1.0:0.0	.	450;383;1707;1707	C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;SPTN4_HUMAN;.	H	1707;1707;1707;450;383	ENSP00000263373:R1707H;ENSP00000340345:R1707H;ENSP00000375879:R450H;ENSP00000375877:R383H	ENSP00000340345:R1707H	R	+	2	0	SPTBN4	45753865	0.988000	0.35896	1.000000	0.80357	0.995000	0.86356	1.861000	0.39438	2.209000	0.71365	0.555000	0.69702	CGC	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462559.2		+	ENST00000352632.3	Missense_Mutation	SNP	19 : 41062025 - 41062025 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	190	27
TCEB1	6921	broad.mit.edu	37	8	74859046	74859046	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:74859046G>A	ENST00000522337.1	-	5	477	c.158C>T	c.(157-159)gCt>gTt	p.A53V	TCEB1_ENST00000520242.1_Missense_Mutation_p.A53V|TCEB1_ENST00000520210.1_Missense_Mutation_p.A37V|TCEB1_ENST00000519487.1_Missense_Mutation_p.A53V|TCEB1_ENST00000518127.1_Missense_Mutation_p.A53V|TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000523815.1_Missense_Mutation_p.A53V|TCEB1_ENST00000284811.8_Missense_Mutation_p.A53V			Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)	53					interspecies interaction between organisms|positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm	protein binding			endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			TTCGTTCTCAGCAAACTGACC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	56	59			NA	NA	8		NA											NA				74859046		2203	4300	6503	SO:0001583	missense			L34587	CCDS34910.1, CCDS56539.1	8q13.3	2010-04-21	2002-08-29		ENSG00000154582	ENSG00000154582	6921	6921			11617	protein-coding gene	gene with protein product		600788	transcription elongation factor B (SIII), polypeptide 1 (15kD, elongin C)		NA	7821821, 7660122	Standard	NM_005648	NM_005648	NA	Approved	SIII	uc003xzx.2	Q15369	OTTHUMG00000164501	ENST00000522337.1:c.158C>T	8.37:g.74859046G>A	ENSP00000429906:p.Ala53Val	NA	Q567Q6	37	CCDS34910.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.094949	0.56075	.	.	ENSG00000154582	ENST00000518127;ENST00000520210;ENST00000520242;ENST00000519487;ENST00000284811;ENST00000522337;ENST00000523815;ENST00000519082	T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.14	5.14	0.70334	BTB/POZ fold (2);SKP1 component, POZ (1);	0.137510	0.31188	N	0.008081	T	0.44953	0.1318	L	0.53671	1.685	0.80722	D	1	B	0.15473	0.013	B	0.24848	0.056	T	0.38436	-0.9661	10	0.54805	T	0.06	-3.8739	18.7873	0.91960	0.0:0.0:1.0:0.0	.	53	Q15369	ELOC_HUMAN	V	53;37;53;53;53;53;53;53	ENSP00000428334:A53V;ENSP00000430224:A37V;ENSP00000428171:A53V;ENSP00000429596:A53V;ENSP00000284811:A53V;ENSP00000429906:A53V;ENSP00000428074:A53V;ENSP00000429789:A53V	ENSP00000284811:A53V	A	-	2	0	TCEB1	75021600	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.769000	0.91742	2.669000	0.90835	0.591000	0.81541	GCT	TCEB1-010	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379020.1		-	ENST00000522337.1	Missense_Mutation	SNP	8 : 74859046 - 74859046 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	224	27
INCENP	3619	broad.mit.edu	37	11	61917621	61917621	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61917621C>T	ENST00000394818.3	+	18	2686	c.2484C>T	c.(2482-2484)agC>agT	p.S828S	INCENP_ENST00000278849.4_Silent_p.S824S	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	828					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ATCTGAATAGCGACGACTCCA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	84	88			NA	NA	11		NA											NA				61917621		2202	4299	6501	SO:0001819	synonymous_variant			AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503	3619	3619			6058	protein-coding gene	gene with protein product		604411	inner centromere protein antigens (135kD, 155kD)		NA	1860899, 11453556	Standard	NM_020238	NM_001040694	NA	Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.2484C>T	11.37:g.61917621C>T		NA	A8MQD2|Q5Y192	37	CCDS44624.1																																																																																			INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394723.2		+	ENST00000394818.3	Silent	SNP	11 : 61917621 - 61917621 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	496	91
PASK	23178	broad.mit.edu	37	2	242080137	242080137	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242080137T>C	ENST00000403638.3	-	3	319	c.228A>G	c.(226-228)tcA>tcG	p.S76S	PASK_ENST00000358649.4_Silent_p.S76S|PASK_ENST00000539818.1_Intron|PASK_ENST00000544142.1_Intron|PASK_ENST00000405260.1_Silent_p.S76S|PASK_ENST00000234040.4_Silent_p.S76S	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	76					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GGGCAGCCAGTGATGATAGAC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	66	65			NA	NA	2		NA											NA				242080137		2203	4300	6503	SO:0001819	synonymous_variant			U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687	23178	23178			17270	protein-coding gene	gene with protein product		607505			NA	11688972, 11459942, 15148392	Standard	NM_015148	NM_001252119	NA	Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000403638.3:c.228A>G	2.37:g.242080137T>C		NA	Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	37	CCDS58758.1																																																																																			PASK-002	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323752.1		-	ENST00000403638.3	Silent	SNP	2 : 242080137 - 242080137 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	342	67
KLHDC7A	127707	broad.mit.edu	37	1	18808505	18808505	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18808505G>A	ENST00000400664.1	+	1	1082	c.1030G>A	c.(1030-1032)Gaa>Aaa	p.E344K		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	344						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGGTGCAGCCGAAAGAGCCGC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	16	15			NA	NA	1		NA											NA				18808505		2139	4208	6347	SO:0001583	missense			AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023	127707	127707			26791	protein-coding gene	gene with protein product					NA		Standard	NM_152375	NM_152375	NA	Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1030G>A	1.37:g.18808505G>A	ENSP00000383505:p.Glu344Lys	NA	Q8N8W6	37	CCDS185.2	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420592	0.42918	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.72835	-0.69	5.31	-1.49	0.08718	.	4.598840	0.00649	N	0.000548	T	0.52741	0.1753	N	0.14661	0.345	0.09310	N	1	B;B	0.12630	0.006;0.0	B;B	0.04013	0.001;0.001	T	0.40156	-0.9578	10	0.45353	T	0.12	.	5.4834	0.16737	0.3099:0.4088:0.2813:0.0	.	281;344	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	K	344;281	ENSP00000383505:E344K	ENSP00000383505:E344K	E	+	1	0	KLHDC7A	18681092	0.000000	0.05858	0.000000	0.03702	0.201000	0.24016	0.470000	0.22084	-0.314000	0.08716	0.313000	0.20887	GAA	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006923.3		+	ENST00000400664.1	Missense_Mutation	SNP	1 : 18808505 - 18808505 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	179	12
COG4	25839	broad.mit.edu	37	16	70534950	70534950	+	Missense_Mutation	SNP	C	C	T	rs146268306	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70534950C>T	ENST00000323786.5	-	9	1127	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	365					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	p.R369H(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TAGCTCACTGCGGGCATTCAT	0.478		NA											C	1	5e-04	NA	NA	2184	NA	0.9999	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.9049	LOWCOV	NA	NA	4e-04	SNP								NA				1	Substitution - Missense(1)	large_intestine(1)											103	88	93			NA	NA	16		NA											NA				70534950		2198	4300	6498	SO:0001583	missense			AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051	25839	25839		Components of oligomeric golgi complex	18620	protein-coding gene	gene with protein product		606976			NA	11980916	Standard		NM_015386	NA	Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.1106G>A	16.37:g.70534950C>T	ENSP00000315775:p.Arg369His	NA	B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	37	CCDS10892.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	35	5.541253	0.96474	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000539961	T	0.55930	0.49	5.84	5.84	0.93424	Conserved oligomeric Golgi complex, subunit 4 (2);	0.000000	0.85682	D	0.000000	T	0.76278	0.3965	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.78066	-0.2349	10	0.87932	D	0	-10.7016	20.1551	0.98106	0.0:1.0:0.0:0.0	.	275;364;365	Q8N8L9;Q6PIW8;Q9H9E3	.;.;COG4_HUMAN	H	369;365;27	ENSP00000315775:R369H	ENSP00000315775:R369H	R	-	2	0	COG4	69092451	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.427000	0.80284	2.760000	0.94817	0.655000	0.94253	CGC	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250326.3		-	ENST00000323786.5	Missense_Mutation	SNP	16 : 70534950 - 70534950 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	311	51
PSG3	5671	broad.mit.edu	37	19	43233933	43233933	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43233933G>A	ENST00000327495.5	-	4	1169	c.985C>T	c.(985-987)Ctc>Ttc	p.L329F	PSG3_ENST00000595140.1_Missense_Mutation_p.L329F	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	329					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TACTCACAGAGGACATTCAGG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	104	109			NA	NA	19		NA											NA				43233933		1511	2707	4218	SO:0001583	missense				CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826	5671	5671		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	9520	protein-coding gene	gene with protein product		176392			NA	2341148	Standard	NM_021016	NM_021016	NA	Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.985C>T	19.37:g.43233933G>A	ENSP00000332215:p.Leu329Phe	NA	Q08265|Q9BRW2|Q9UPL4|Q9UQ77	37	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	g	10.26	1.300189	0.23650	.	.	ENSG00000221826	ENST00000327495	T	0.10960	2.82	1.36	-0.148	0.13424	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.25644	0.0624	M	0.77103	2.36	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.986	T	0.12656	-1.0539	9	0.31617	T	0.26	.	4.6649	0.12660	0.0:0.4105:0.5895:0.0	.	307;329	Q08266;Q16557	.;PSG3_HUMAN	F	329	ENSP00000332215:L329F	ENSP00000332215:L329F	L	-	1	0	PSG3	47925773	0.000000	0.05858	0.010000	0.14722	0.008000	0.06430	-1.655000	0.01982	0.696000	0.31696	0.400000	0.26472	CTC	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321423.2		-	ENST00000327495.5	Missense_Mutation	SNP	19 : 43233933 - 43233933 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	806	110
NAALADL1	10004	broad.mit.edu	37	11	64825602	64825602	+	Silent	SNP	G	G	A	rs144528264		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64825602G>A	ENST00000355721.3	-	2	305	c.306C>T	c.(304-306)taC>taT	p.Y102Y	NAALADL1_ENST00000358658.3_Silent_p.Y102Y|NAALADL1_ENST00000340252.4_Silent_p.Y102Y|NAALADL1_ENST00000355369.2_Silent_p.Y102Y|NAALADL1_ENST00000356632.3_Silent_p.Y102Y|NAALADL1_ENST00000339885.2_Silent_p.Y102Y			Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	102					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GCAGCACTTCGTACGTGGAGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		2,4400	4.2+/-10.8	0,2,2199	43	40	41		306	-2.2	0.1	11	dbSNP_134	41	0,8594		0,0,4297	no	coding-synonymous	NAALADL1	NM_005468.2		0,2,6496	AA,AG,GG	NA	0.0,0.0454,0.0154		102/741	64825602	2,12994	2201	4297	6498	SO:0001819	synonymous_variant			AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060	10004	10004			23536	protein-coding gene	gene with protein product	ileal peptidase I100	602640			NA	10085079	Standard	NM_005468	NM_005468	NA	Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000355721.3:c.306C>T	11.37:g.64825602G>A		NA	C9J8A1|C9J964|C9JL35|C9JSN0|O43176	37	CCDS31604.1																																																																																			NAALADL1-021	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385167.1		-	ENST00000355721.3	Silent	SNP	11 : 64825602 - 64825602 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	420	94
CSPP1	79848	broad.mit.edu	37	8	68030998	68030998	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68030998G>A	ENST00000262210.5	+	13	1655	c.1624G>A	c.(1624-1626)Gta>Ata	p.V542I	CSPP1_ENST00000412460.1_Missense_Mutation_p.V248I	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	577						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AATGATGGGCGTACAGCCTGC	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	65	67			NA	NA	8		NA											NA				68030998		1838	4077	5915	SO:0001583	missense			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218	79848	79848			26193	protein-coding gene	gene with protein product		611654			NA	15580290, 24360807	Standard	NM_024790	NM_024790	NA	Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.1624G>A	8.37:g.68030998G>A	ENSP00000262210:p.Val542Ile	NA	A6ND63|Q70F00|Q8TBC1	37	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	6.702	0.498149	0.12762	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.31769	1.48;1.48;1.48	5.28	3.42	0.39159	.	0.854677	0.10065	N	0.720405	T	0.24812	0.0602	L	0.40543	1.245	0.09310	N	0.999999	B;B;B;B	0.18310	0.001;0.004;0.027;0.027	B;B;B;B	0.13407	0.002;0.004;0.009;0.009	T	0.27262	-1.0079	10	0.30854	T	0.27	-4.8658	7.8446	0.29419	0.1696:0.1339:0.6965:0.0	.	248;542;577;577	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5;F8W7C3	.;.;CSPP1_HUMAN;.	I	542;577;248;248	ENSP00000262210:V542I;ENSP00000415782:V248I;ENSP00000430092:V248I	ENSP00000262210:V542I	V	+	1	0	CSPP1	68193552	0.013000	0.17824	0.998000	0.56505	0.956000	0.61745	0.281000	0.18810	0.292000	0.22492	-0.813000	0.03139	GTA	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379254.1		+	ENST00000262210.5	Missense_Mutation	SNP	8 : 68030998 - 68030998 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	225	37
OSGIN2	734	broad.mit.edu	37	8	90936852	90936852	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:90936852C>T	ENST00000451899.2	+	6	1002	c.742C>T	c.(742-744)Ctc>Ttc	p.L248F	OSGIN2_ENST00000297438.2_Missense_Mutation_p.L204F	NM_001126111.1	NP_001119583.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	204					germ cell development|meiosis					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CGTATCAAGACTCTACAGAGA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	108	105			NA	NA	8		NA											NA				90936852		2203	4299	6502	SO:0001583	missense			AF061326	CCDS6248.1, CCDS47888.1	8q21	2006-10-05	2006-10-05	2006-10-05	ENSG00000164823	ENSG00000164823	734	734			1355	protein-coding gene	gene with protein product		604598	chromosome 8 open reading frame 1	C8orf1	NA	9933573	Standard	NM_004337	NM_004337	NA	Approved	hT41	uc003yeh.3	Q9Y236	OTTHUMG00000163811	ENST00000451899.2:c.742C>T	8.37:g.90936852C>T	ENSP00000396445:p.Leu248Phe	NA		37	CCDS47888.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.035679	0.35893	.	.	ENSG00000164823	ENST00000297438;ENST00000451899	T;T	0.22539	1.95;1.95	5.01	5.01	0.66863	.	0.191779	0.46758	D	0.000264	T	0.35451	0.0932	L	0.56769	1.78	0.80722	D	1	D;D	0.61080	0.989;0.977	P;P	0.59056	0.735;0.851	T	0.02646	-1.1129	10	0.25751	T	0.34	-7.6292	13.3058	0.60351	0.1583:0.8417:0.0:0.0	.	248;204	Q9Y236-2;Q9Y236	.;OSGI2_HUMAN	F	204;248	ENSP00000297438:L204F;ENSP00000396445:L248F	ENSP00000297438:L204F	L	+	1	0	OSGIN2	91006027	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.621000	0.67743	2.343000	0.79666	0.555000	0.69702	CTC	OSGIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375692.1		+	ENST00000451899.2	Missense_Mutation	SNP	8 : 90936852 - 90936852 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	608	97
RBFOX1	54715	broad.mit.edu	37	16	7629903	7629903	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:7629903A>G	ENST00000552089.1	+	5	614	c.500A>G	c.(499-501)gAc>gGc	p.D167G	RBFOX1_ENST00000553186.1_Missense_Mutation_p.D132G|RBFOX1_ENST00000436368.2_Missense_Mutation_p.D152G|RBFOX1_ENST00000547372.1_Missense_Mutation_p.D175G|RBFOX1_ENST00000311745.5_Missense_Mutation_p.D152G|RBFOX1_ENST00000422070.4_Missense_Mutation_p.D175G|RBFOX1_ENST00000340209.4_Missense_Mutation_p.D137G|RBFOX1_ENST00000550418.1_Missense_Mutation_p.D132G|RBFOX1_ENST00000355637.4_Missense_Mutation_p.D152G|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000547338.1_Missense_Mutation_p.D132G			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	132	RRM.				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CGGGATCCGGACCTCAGACAA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(157;934 2567 15163 39509)							NA				0													86	80	82			NA	NA	16		NA											NA				7629903		2197	4300	6497	SO:0001583	missense			AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328	54715	54715		RNA binding motif (RRM) containing	18222	protein-coding gene	gene with protein product	ataxin 2-binding protein 1, hexaribonucleotide binding protein 1	605104			NA	10814712, 16260614	Standard	NM_145891	NM_018723	NA	Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000552089.1:c.500A>G	16.37:g.7629903A>G	ENSP00000448496:p.Asp167Gly	NA	Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	37		.	.	.	.	.	.	.	.	.	.	A	29.9	5.045154	0.93685	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T;T	0.42131	2.15;2.15;2.15;2.15;2.15;0.98;2.15;2.15;2.15;2.15;2.15;2.15	5.39	5.39	0.77823	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.62454	0.2429	M	0.64404	1.975	0.80722	D	1	P;D;D;D;D;P;D;D	0.89917	0.72;0.991;0.999;0.994;0.999;0.923;1.0;0.999	P;D;D;D;D;P;D;D	0.87578	0.779;0.989;0.998;0.98;0.994;0.852;0.997;0.996	T	0.65804	-0.6079	10	0.72032	D	0.01	-19.4393	15.4421	0.75190	1.0:0.0:0.0:0.0	.	152;175;152;152;152;132;132;175	F8WAC5;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;RFOX1_HUMAN;.	G	131;132;132;175;175;167;132;132;152;152;152;152;137	ENSP00000450402:D131G;ENSP00000450031:D132G;ENSP00000447753:D132G;ENSP00000446842:D175G;ENSP00000391269:D175G;ENSP00000448496:D167G;ENSP00000447281:D132G;ENSP00000447717:D132G;ENSP00000402745:D152G;ENSP00000309117:D152G;ENSP00000347855:D152G;ENSP00000344196:D137G	ENSP00000309117:D152G	D	+	2	0	RBFOX1	7569904	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.930000	0.92872	2.054000	0.61138	0.533000	0.62120	GAC	RBFOX1-006	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000409496.1		+	ENST00000552089.1	Missense_Mutation	SNP	16 : 7629903 - 7629903 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	351	64
TMEM206	55248	broad.mit.edu	37	1	212548540	212548540	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212548540G>A	ENST00000261455.4	-	7	1023	c.886C>T	c.(886-888)Caa>Taa	p.Q296*	TMEM206_ENST00000535273.1_Nonsense_Mutation_p.Q357*	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	296						integral to membrane				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		CTCACATCTTGGACTTTCTGG	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	62	62			NA	NA	1		NA											NA				212548540		2203	4300	6503	SO:0001587	stop_gained			AK024066	CCDS1504.1, CCDS55687.1	1q32.3	2008-02-05	2008-01-17	2008-01-17	ENSG00000065600	ENSG00000065600	55248	55248			25593	protein-coding gene	gene with protein product			chromosome 1 open reading frame 75	C1orf75	NA	12477932	Standard	NM_018252	NM_018252	NA	Approved	FLJ10874	uc010pte.2	Q9H813	OTTHUMG00000036751	ENST00000261455.4:c.886C>T	1.37:g.212548540G>A	ENSP00000261455:p.Gln296*	NA	Q6IA87|Q9NV85	37	CCDS1504.1	.	.	.	.	.	.	.	.	.	.	G	35	5.461568	0.96240	.	.	ENSG00000065600	ENST00000261455;ENST00000535273	.	.	.	5.67	5.67	0.87782	.	0.137522	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-18.1204	20.1421	0.98061	0.0:0.0:1.0:0.0	.	.	.	.	X	296;357	.	ENSP00000261455:Q296X	Q	-	1	0	TMEM206	210615163	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.198000	0.51035	2.836000	0.97738	0.655000	0.94253	CAA	TMEM206-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089306.1		-	ENST00000261455.4	Nonsense_Mutation	SNP	1 : 212548540 - 212548540 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	42
IDH2	3418	broad.mit.edu	37	15	90631955	90631955	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90631955T>C	ENST00000559482.1	-	3	294				IDH2_ENST00000539790.1_Missense_Mutation_p.K3R|IDH2_ENST00000540499.2_Missense_Mutation_p.K81R|IDH2_ENST00000330062.3_Missense_Mutation_p.K133R			P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	NA					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATTGGGACTTTTCCACATCTT	0.517		NA	M		GBM									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		15	15q26.1	3418	socitrate dehydrogenase 2 (NADP+), mitochondrial 		M	0													91	92	91			NA	NA	15		NA											NA				90631955		2200	4298	6498	SO:0001627	intron_variant				CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	3418	3418	1.1.1.42		5383	protein-coding gene	gene with protein product		147650			NA		Standard		NM_001289910	NA	Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000559482.1:c.208-221A>G	15.37:g.90631955T>C		NA	B2R6L6|Q96GT3	37		.	.	.	.	.	.	.	.	.	.	T	11.44	1.639058	0.29157	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	T;T;T	0.73258	-0.73;-0.73;-0.73	5.67	4.53	0.55603	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	T	0.54464	0.1860	N	0.25144	0.715	0.42806	D	0.993945	B	0.09022	0.002	B	0.11329	0.006	T	0.45352	-0.9267	10	0.21540	T	0.41	.	11.1028	0.48186	0.0:0.0:0.1553:0.8447	.	133	P48735	IDHP_HUMAN	R	133;3;81	ENSP00000331897:K133R;ENSP00000438457:K3R;ENSP00000446147:K81R	ENSP00000331897:K133R	K	-	2	0	IDH2	88432959	1.000000	0.71417	1.000000	0.80357	0.409000	0.31022	6.238000	0.72350	0.952000	0.37798	0.459000	0.35465	AAA	IDH2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000417508.1		-	ENST00000559482.1	Intron	SNP	15 : 90631955 - 90631955 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	380	63
PTPRT	11122	broad.mit.edu	37	20	40748583	40748583	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40748583G>A	ENST00000373198.4	-	21	3168	c.2933C>T	c.(2932-2934)gCg>gTg	p.A978V	PTPRT_ENST00000373187.1_Missense_Mutation_p.A959V|PTPRT_ENST00000373184.1_Missense_Mutation_p.A949V|PTPRT_ENST00000373190.1_Missense_Mutation_p.A958V|PTPRT_ENST00000373193.3_Missense_Mutation_p.A962V|PTPRT_ENST00000373201.1_Missense_Mutation_p.A949V|PTPRT_ENST00000356100.2_Missense_Mutation_p.A968V	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	NA	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACCTTGAGTCGCAATGTAGTG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	134	134			NA	NA	20		NA											NA				40748583		1914	4131	6045	SO:0001583	missense			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090	11122	11122		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	9682	protein-coding gene	gene with protein product		608712			NA	9486824, 9602027	Standard		NM_133170	NA	Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373198.4:c.2933C>T	20.37:g.40748583G>A	ENSP00000362294:p.Ala978Val	NA	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	37		.	.	.	.	.	.	.	.	.	.	G	36	5.704283	0.96812	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27	5.6	5.6	0.85130	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	T	0.66839	0.2830	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69654	0.965;0.955	T	0.72513	-0.4270	10	0.87932	D	0	.	19.6134	0.95619	0.0:0.0:1.0:0.0	.	981;959	O14522-1;O14522	.;PTPRT_HUMAN	V	958;959;962;968;981;949;949	ENSP00000362286:A958V;ENSP00000362283:A959V;ENSP00000362289:A962V;ENSP00000348408:A968V;ENSP00000362294:A981V;ENSP00000362280:A949V;ENSP00000362297:A949V	ENSP00000348408:A968V	A	-	2	0	PTPRT	40181997	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	9.792000	0.99085	2.631000	0.89168	0.655000	0.94253	GCG	PTPRT-005	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000080318.2		-	ENST00000373198.4	Missense_Mutation	SNP	20 : 40748583 - 40748583 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	649	112
HAS2	3037	broad.mit.edu	37	8	122641042	122641042	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:122641042C>A	ENST00000303924.4	-	2	1076	c.539G>T	c.(538-540)aGt>aTt	p.S180I		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	180						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			GATGCAGATACTTTTGTTGGA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													296	262	274			NA	NA	8		NA											NA				122641042		2203	4300	6503	SO:0001583	missense			U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	3037	3037	2.4.1.212	Glycosyltransferase family 2 domain containing	4819	protein-coding gene	gene with protein product		601636			NA	9169154	Standard	NM_005328	NM_005328	NA	Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.539G>T	8.37:g.122641042C>A	ENSP00000306991:p.Ser180Ile	NA	Q32MM3	37	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.670841	0.29693	.	.	ENSG00000170961	ENST00000303924;ENST00000443194	T	0.44083	0.93	5.87	5.0	0.66597	.	0.113441	0.85682	D	0.000000	T	0.27866	0.0686	N	0.22421	0.69	0.42532	D	0.993049	B	0.19583	0.037	B	0.17098	0.017	T	0.08722	-1.0708	10	0.21014	T	0.42	-12.8627	11.184	0.48644	0.0:0.8605:0.0:0.1395	.	180	Q92819	HAS2_HUMAN	I	180	ENSP00000306991:S180I	ENSP00000306991:S180I	S	-	2	0	HAS2	122710223	1.000000	0.71417	0.944000	0.38274	0.883000	0.51084	3.928000	0.56506	1.631000	0.50456	0.655000	0.94253	AGT	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381150.2		-	ENST00000303924.4	Missense_Mutation	SNP	8 : 122641042 - 122641042 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1221	276
SDK1	221935	broad.mit.edu	37	7	4091441	4091441	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4091441C>A	ENST00000389531.3	+	19	2890	c.2890C>A	c.(2890-2892)Ctg>Atg	p.L964M	SDK1_ENST00000404826.2_Missense_Mutation_p.L964M			Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	964	Fibronectin type-III 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CACACCTCAGCTGGTCTGGAC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	118	121			NA	NA	7		NA											NA				4091441		2203	4300	6503	SO:0001583	missense			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555	221935	221935		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	19307	protein-coding gene	gene with protein product		607216	sidekick homolog 1 (chicken), sidekick homolog 1, cell adhesion molecule (chicken)		NA	12230981, 17307840, 15213259	Standard	NM_152744	NM_001079653	NA	Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000389531.3:c.2890C>A	7.37:g.4091441C>A	ENSP00000374182:p.Leu964Met	NA	Q8TEN9|Q8TEP5|Q96N44	37		.	.	.	.	.	.	.	.	.	.	C	10.04	1.242853	0.22796	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.55052	0.54;0.54	5.62	5.62	0.85841	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000007	T	0.74658	0.3745	M	0.83384	2.64	0.42244	D	0.991944	P;D	0.63880	0.555;0.993	P;D	0.66084	0.587;0.941	T	0.74365	-0.3689	10	0.38643	T	0.18	.	19.69	0.95996	0.0:1.0:0.0:0.0	.	964;964	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	M	964	ENSP00000385899:L964M;ENSP00000374182:L964M	ENSP00000374182:L964M	L	+	1	2	SDK1	4057967	1.000000	0.71417	0.991000	0.47740	0.519000	0.34347	3.111000	0.50360	2.648000	0.89879	0.650000	0.86243	CTG	SDK1-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000323705.2		+	ENST00000389531.3	Missense_Mutation	SNP	7 : 4091441 - 4091441 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	703	100
CX3CL1	6376	broad.mit.edu	37	16	57416775	57416775	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57416775C>T	ENST00000563383.1	+	3	1135	c.1043C>T	c.(1042-1044)gCg>gTg	p.A348V	CX3CL1_ENST00000565912.1_Missense_Mutation_p.A304V|CX3CL1_ENST00000006053.6_Missense_Mutation_p.A342V			P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	342					cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CGGAGGCAGGCGGTGGGGCTG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	43	42			NA	NA	16		NA											NA				57416775		2198	4300	6498	SO:0001583	missense			U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210	6376	6376		Endogenous ligands	10647	protein-coding gene	gene with protein product		601880	small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)	SCYD1	NA	9177350, 9024663	Standard	NM_002996	NM_002996	NA	Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000563383.1:c.1043C>T	16.37:g.57416775C>T	ENSP00000456830:p.Ala348Val	NA	O00672	37		.	.	.	.	.	.	.	.	.	.	C	22.3	4.269945	0.80469	.	.	ENSG00000006210	ENST00000006053	T	0.13778	2.56	5.19	5.19	0.71726	.	0.607960	0.13882	N	0.356231	T	0.28995	0.0720	L	0.36672	1.1	0.41076	D	0.985482	D	0.89917	1.0	D	0.81914	0.995	T	0.01401	-1.1364	10	0.87932	D	0	-27.547	14.2662	0.66121	0.0:1.0:0.0:0.0	.	342	P78423	X3CL1_HUMAN	V	342	ENSP00000006053:A342V	ENSP00000006053:A342V	A	+	2	0	CX3CL1	55974276	0.987000	0.35691	0.982000	0.44146	0.728000	0.41692	3.446000	0.52928	2.412000	0.81896	0.558000	0.71614	GCG	CX3CL1-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000430432.1		+	ENST00000563383.1	Missense_Mutation	SNP	16 : 57416775 - 57416775 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	438	81
FAT2	2196	broad.mit.edu	37	5	150945633	150945633	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150945633G>A	ENST00000261800.5	-	1	2872	c.2860C>T	c.(2860-2862)Ctg>Ttg	p.L954L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	954	Cadherin 8.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGGGGCCCAGGTCAGGATCA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	53	52			NA	NA	5		NA											NA				150945633		2203	4300	6503	SO:0001819	synonymous_variant			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570	2196	2196		Cadherins / Cadherin-related	3596	protein-coding gene	gene with protein product	cadherin-related family member 9	604269	FAT tumor suppressor (Drosophila) homolog 2, FAT tumor suppressor homolog 2 (Drosophila)		NA	9693030	Standard	NM_001447	NM_001447	NA	Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.2860C>T	5.37:g.150945633G>A		NA	O75091|Q9NSR7	37	CCDS4317.1																																																																																			FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252434.1		-	ENST00000261800.5	Silent	SNP	5 : 150945633 - 150945633 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	264	34
C19orf57	79173	broad.mit.edu	37	19	14000527	14000527	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14000527C>A	ENST00000346736.2	-	6	1269	c.1142G>T	c.(1141-1143)aGg>aTg	p.R381M	C19orf57_ENST00000586783.1_Missense_Mutation_p.R381M|C19orf57_ENST00000454313.1_Missense_Mutation_p.R381M|C19orf57_ENST00000591586.1_Intron	NM_024323.3	NP_077299.3	Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	381					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CAAGGCCCTCCTGTGGCCTCC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	24	25			NA	NA	19		NA											NA				14000527		2203	4296	6499	SO:0001583	missense			BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016	79173	79173			28153	protein-coding gene	gene with protein product					NA	8228263	Standard	NM_024323	NM_024323	NA	Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000346736.2:c.1142G>T	19.37:g.14000527C>A	ENSP00000254336:p.Arg381Met	NA	Q13411|Q8N825|Q96D63|Q9BU49	37	CCDS12299.1	.	.	.	.	.	.	.	.	.	.	C	8.876	0.950379	0.18431	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.40476	1.03;1.03	3.06	-2.43	0.06522	.	0.700857	0.12983	N	0.423072	T	0.17746	0.0426	N	0.14661	0.345	0.09310	N	1	P;P	0.42871	0.792;0.564	B;B	0.38020	0.263;0.192	T	0.12400	-1.0549	10	0.46703	T	0.11	-0.0386	1.6074	0.02687	0.3606:0.3463:0.177:0.1161	.	381;381	Q0VDD7-2;Q0VDD7	.;CS057_HUMAN	M	381	ENSP00000404382:R381M;ENSP00000254336:R381M	ENSP00000254336:R381M	R	-	2	0	C19orf57	13861527	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.204000	0.17335	-0.321000	0.08627	-0.140000	0.14226	AGG	C19orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457948.1		-	ENST00000346736.2	Missense_Mutation	SNP	19 : 14000527 - 14000527 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	264	40
TFAP2D	83741	broad.mit.edu	37	6	50681795	50681795	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:50681795C>T	ENST00000008391.3	+	1	255	c.27C>T	c.(25-27)gtC>gtT	p.V9V		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	9							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CGGGACTAGTCCACGATGCCG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	63	62			NA	NA	6		NA											NA				50681795		2203	4300	6503	SO:0001819	synonymous_variant			AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197	83741	83741			15581	protein-coding gene	gene with protein product		610161	transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1	TFAP2BL1	NA	11733187	Standard	NM_172238	NM_172238	NA	Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.27C>T	6.37:g.50681795C>T		NA	Q8IWX0	37	CCDS4933.1																																																																																			TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040881.1		+	ENST00000008391.3	Silent	SNP	6 : 50681795 - 50681795 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	453	87
BMP5	653	broad.mit.edu	37	6	55623887	55623887	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55623887G>A	ENST00000370830.3	-	6	1829	c.1131C>T	c.(1129-1131)taC>taT	p.Y377Y	BMP5_ENST00000446683.2_Intron	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	377					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			AAAATGCAGCGTATCCTTCTG	0.343		NA											G	8	0.0037	NA	0.02	2184	NA	1	,	,	NA	2e-04	0.0013	NA	NA	0.0037	0.9941	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0													151	138	143			NA	NA	6		NA											NA				55623887		2203	4300	6503	SO:0001819	synonymous_variant				CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175	653	653		Bone morphogenetic proteins, Endogenous ligands	1072	protein-coding gene	gene with protein product		112265			NA	1427904, 11580864	Standard		NM_021073	NA	Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.1131C>T	6.37:g.55623887G>A		NA	Q9H547|Q9NTM5	37	CCDS4958.1																																																																																			BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041000.1		-	ENST00000370830.3	Silent	SNP	6 : 55623887 - 55623887 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	503	91
MUT	4594	broad.mit.edu	37	6	49426795	49426795	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:49426795C>A	ENST00000274813.3	-	2	512	c.385G>T	c.(385-387)Gct>Tct	p.A129S		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	129					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAAATCTCACCCTTAATGTTG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CD065768	MUT	D							63	64	64			NA	NA	6		NA											NA				49426795		2203	4300	6503	SO:0001630	splice_region_variant				CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	4594	4594	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	methylmalonyl Coenzyme A mutase		NA	2907507, 9503014	Standard		NM_000255	NA	Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.385+1G>T	6.37:g.49426795C>A		NA	A8K953|Q5SYZ3|Q96B11|Q9UD64	37	CCDS4924.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721302	0.68959	.	.	ENSG00000146085	ENST00000274813	D	0.98207	-4.79	5.73	4.85	0.62838	Cobalamin (vitamin B12)-dependent enzyme, catalytic (1);Cobalamin (vitamin B12)-dependent enzyme, catalytic subdomain (1);Methylmalonyl-CoA mutase, alpha/beta chain, catalytic (1);Methylmalonyl-CoA mutase, alpha chain, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.98620	0.9538	M	0.85859	2.78	0.80722	D	1	P	0.39782	0.688	P	0.57679	0.825	D	0.99053	1.0828	9	.	.	.	-11.523	15.3823	0.74669	0.1403:0.8597:0.0:0.0	.	129	P22033	MUTA_HUMAN	S	129	ENSP00000274813:A129S	.	A	-	1	0	MUT	49534754	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	7.445000	0.80570	1.509000	0.48786	0.655000	0.94253	GCT	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040854.1	Missense_Mutation	-	ENST00000274813.3	Splice_Site	SNP	6 : 49426795 - 49426795 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	256	28
RAB38	23682	broad.mit.edu	37	11	87908434	87908434	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:87908434G>A	ENST00000243662.6	-	1	201	c.119C>T	c.(118-120)gCc>gTc	p.A40V		NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	40					protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCCGATTGTGGCCCGGTAGTG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	74	84			NA	NA	11		NA											NA				87908434		2201	4299	6500	SO:0001583	missense			AF235022	CCDS8281.1	11q14	2008-05-14			ENSG00000123892	ENSG00000123892	23682	23682		RAB, member RAS oncogene	9776	protein-coding gene	gene with protein product		606281			NA	10910072	Standard		NM_022337	NA	Approved	NY-MEL-1	uc001pcj.2	P57729	OTTHUMG00000167288	ENST00000243662.6:c.119C>T	11.37:g.87908434G>A	ENSP00000243662:p.Ala40Val	NA	Q53XK7	37	CCDS8281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.023787|6.023787	0.97211|0.97211	.|.	.|.	ENSG00000123892|ENSG00000123892	ENST00000243662|ENST00000526372	T|.	0.80653|.	-1.4|.	5.2|5.2	5.2|5.2	0.72013|0.72013	Small GTP-binding protein domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68091|0.68091	0.2963|0.2963	L|L	0.45228|0.45228	1.405|1.405	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.71414|.	0.973|.	T|T	0.63466|0.63466	-0.6631|-0.6631	9|5	.|.	.|.	.|.	-3.4587|-3.4587	18.9316|18.9316	0.92568|0.92568	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	40|.	P57729|.	RAB38_HUMAN|.	V|S	40|57	ENSP00000243662:A40V|.	.|.	A|P	-|-	2|1	0|0	RAB38|RAB38	87548082|87548082	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.538000|9.538000	0.98072|0.98072	2.691000|2.691000	0.91804|0.91804	0.655000|0.655000	0.94253|0.94253	GCC|CCA	RAB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394015.2		-	ENST00000243662.6	Missense_Mutation	SNP	11 : 87908434 - 87908434 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	232	32
CCDC112	153733	broad.mit.edu	37	5	114604698	114604698	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114604698C>A	ENST00000506442.1	-	8	1482		c.e8-1		CCDC112_ENST00000512261.1_Splice_Site|CCDC112_ENST00000395557.4_Splice_Site|CCDC112_ENST00000379611.5_Splice_Site			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	NA										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TGTTTTCAACCTGTAATCAGA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	130	132			NA	NA	5		NA											NA				114604698		2202	4300	6502	SO:0001630	splice_region_variant			BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221	153733	153733			28599	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152549	NM_001040440	NA	Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000506442.1:c.1084-1G>T	5.37:g.114604698C>A		NA	Q6A334	37		.	.	.	.	.	.	.	.	.	.	c	21.6	4.174790	0.78452	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000506442;ENST00000395557	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1024	0.93279	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC112	114632597	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.215000	0.72206	2.803000	0.96430	0.650000	0.86243	.	CCDC112-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000371000.1	Intron	-	ENST00000506442.1	Splice_Site	SNP	5 : 114604698 - 114604698 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	377	57
ZDHHC22	283576	broad.mit.edu	37	14	77605761	77605761	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77605761G>A	ENST00000319374.4	-	2	523	c.321C>T	c.(319-321)caC>caT	p.H107H	RP11-463C8.4_ENST00000557752.1_Intron	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	zinc finger, DHHC-type containing 22	107						integral to membrane	acyltransferase activity|zinc ion binding			kidney(1)|lung(1)|urinary_tract(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		AGTGATGGTCGTGCCTCAGGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	39	37			NA	NA	14		NA											NA				77605761		2182	4273	6455	SO:0001819	synonymous_variant			AK095612	CCDS45140.1	14q24.3	2008-08-06	2004-03-05	2004-03-10	ENSG00000177108	ENSG00000177108	283576	283576		Zinc fingers, DHHC-type	20106	protein-coding gene	gene with protein product			chromosome 14 open reading frame 59	C14orf59	NA		Standard	NM_174976	NM_174976	NA	Approved		uc010asp.3	Q8N966		ENST00000319374.4:c.321C>T	14.37:g.77605761G>A		NA	A6NH02|B7Z2L5|Q149P4	37	CCDS45140.1																																																																																			ZDHHC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414289.1		-	ENST00000319374.4	Silent	SNP	14 : 77605761 - 77605761 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	96	22
HTATIP2	10553	broad.mit.edu	37	11	20404603	20404603	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20404603C>T	ENST00000451739.2	+	5	1022	c.581C>T	c.(580-582)tCt>tTt	p.S194F	HTATIP2_ENST00000531058.1_Missense_Mutation_p.S148F|HTATIP2_ENST00000443524.2_Missense_Mutation_p.S194F|HTATIP2_ENST00000419348.2_Missense_Mutation_p.S228F|HTATIP2_ENST00000421577.2_Missense_Mutation_p.S194F	NM_001098522.1	NP_001091992.1	Q9BUP3	HTAI2_HUMAN	HIV-1 Tat interactive protein 2, 30kDa	194					angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter	cytoplasm|nuclear envelope	NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity			large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TTACCAGACTCTTGGGCCAGT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	66	72			NA	NA	11		NA											NA				20404603		2203	4300	6503	SO:0001583	missense			AF039103	CCDS7852.1, CCDS44553.1, CCDS53613.1	11p15.1	2011-09-14	2002-08-29		ENSG00000109854	ENSG00000109854	10553	10553	1.1.1.-	Short chain dehydrogenase/reductase superfamily / Atypical members	16637	protein-coding gene	gene with protein product	Tat-interacting protein (30kD), short chain dehydrogenase/reductase family 44U, member 1	605628	HIV-1 Tat interactive protein 2, 30 kDa		NA	9482853, 9174052, 19027726	Standard	NM_001098521	NM_006410	NA	Approved	TIP30, CC3, FLJ26963, SDR44U1	uc001mpx.2	Q9BUP3	OTTHUMG00000166015	ENST00000451739.2:c.581C>T	11.37:g.20404603C>T	ENSP00000394259:p.Ser194Phe	NA	A8K7S7|D3DQY8|O15383|O60520|O95345|Q53GC1|Q53GG2|Q6IBI3	37	CCDS7852.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488523	0.44249	.	.	ENSG00000109854	ENST00000421577;ENST00000443524;ENST00000419348;ENST00000451739;ENST00000531058	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.57	6.07	5.16	0.70880	NAD(P)-binding domain (1);	0.376385	0.29684	N	0.011467	T	0.13200	0.0320	N	0.05574	-0.02	0.38429	D	0.946382	B;B	0.13594	0.001;0.008	B;B	0.04013	0.001;0.001	T	0.20538	-1.0272	10	0.09843	T	0.71	-6.2661	8.3212	0.32130	0.0:0.8386:0.0:0.1614	.	194;228	Q9BUP3;Q9BUP3-3	HTAI2_HUMAN;.	F	194;194;228;194;148	ENSP00000397752:S194F;ENSP00000387876:S194F;ENSP00000392985:S228F;ENSP00000394259:S194F;ENSP00000436729:S148F	ENSP00000392985:S228F	S	+	2	0	HTATIP2	20361179	0.039000	0.19947	0.982000	0.44146	0.195000	0.23768	1.960000	0.40422	2.885000	0.99019	0.655000	0.94253	TCT	HTATIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387445.2		+	ENST00000451739.2	Missense_Mutation	SNP	11 : 20404603 - 20404603 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	170	34
RNF148	378925	broad.mit.edu	37	7	122342708	122342708	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122342708T>G	ENST00000447240.1	-	1	258	c.97A>C	c.(97-99)Aac>Cac	p.N33H	CADPS2_ENST00000313070.7_Intron|RNF148_ENST00000434824.1_Missense_Mutation_p.N33H|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron			Q8N7C7	RN148_HUMAN	ring finger protein 148	33						integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						GCTTTTCCGTTTGAGTCAGGA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	58	61			NA	NA	7		NA											NA				122342708		1868	4104	5972	SO:0001583	missense			BC029264	CCDS47692.1	7q31.33	2013-01-09			ENSG00000235631	ENSG00000235631	378925	378925		RING-type (C3HC4) zinc fingers	22411	protein-coding gene	gene with protein product					NA	8744354	Standard	NM_198085	NM_198085	NA	Approved	MGC35222	uc003vkk.1	Q8N7C7	OTTHUMG00000157099	ENST00000447240.1:c.97A>C	7.37:g.122342708T>G	ENSP00000412846:p.Asn33His	NA	Q8N308	37		.	.	.	.	.	.	.	.	.	.	T	6.628	0.484386	0.12641	.	.	ENSG00000235631	ENST00000434824;ENST00000447240	T	0.04317	3.65	5.4	4.03	0.46877	.	.	.	.	.	T	0.02193	0.0068	N	0.08118	0	0.58432	D	0.999999	B;P	0.35600	0.412;0.511	B;B	0.31751	0.128;0.135	T	0.53330	-0.8454	9	0.45353	T	0.12	.	2.4256	0.04459	0.1502:0.0928:0.1556:0.6014	.	33;33	C9JVJ0;Q8N7C7	.;RN148_HUMAN	H	33	ENSP00000388207:N33H	ENSP00000388207:N33H	N	-	1	0	RNF148	122129944	0.037000	0.19845	0.976000	0.42696	0.468000	0.32798	1.444000	0.35068	2.044000	0.60594	0.454000	0.30748	AAC	RNF148-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000347425.1		-	ENST00000447240.1	Missense_Mutation	SNP	7 : 122342708 - 122342708 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	172	24
CAND2	23066	broad.mit.edu	37	3	12875277	12875277	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12875277G>T	ENST00000456430.2	+	15	3548	c.3507G>T	c.(3505-3507)caG>caT	p.Q1169H	CAND2_ENST00000295989.5_Missense_Mutation_p.Q1052H	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	1169					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CTGTGAAGCAGGAGTTTGAAA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(43;676 868 1633 6395 37496)							NA				0													93	94	93			NA	NA	3		NA											NA				12875277		2020	4208	6228	SO:0001583	missense				CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712	23066	23066			30689	protein-coding gene	gene with protein product	TBP interacting protein	610403			NA	9734811, 10441524	Standard	XM_371617	NM_012298	NA	Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.3507G>T	3.37:g.12875277G>T	ENSP00000387641:p.Gln1169His	NA	B9EGM9	37	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.317076	0.60524	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.71341	-0.56;-0.56	4.99	3.05	0.35203	TATA-binding protein interacting (TIP20) (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85656	0.5747	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.984	D	0.85285	0.1064	10	0.87932	D	0	-32.9031	5.4587	0.16604	0.3121:0.0:0.6879:0.0	.	1169;1052	O75155;O75155-2	CAND2_HUMAN;.	H	1052;1169	ENSP00000295989:Q1052H;ENSP00000387641:Q1169H	ENSP00000295989:Q1052H	Q	+	3	2	CAND2	12850277	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.214000	0.42853	1.328000	0.45358	0.591000	0.81541	CAG	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339856.4		+	ENST00000456430.2	Missense_Mutation	SNP	3 : 12875277 - 12875277 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	444	108
C2CD3	26005	broad.mit.edu	37	11	73850003	73850003	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73850003G>T	ENST00000313663.7	-	5	943	c.717C>A	c.(715-717)gaC>gaA	p.D239E	C2CD3_ENST00000334126.7_Missense_Mutation_p.D239E|C2CD3_ENST00000539061.1_Missense_Mutation_p.D239E	NM_015531.4	NP_056346.3	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	239						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AGCATACATGGTCTTTTCCCC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	61	62			NA	NA	11		NA											NA				73850003		2200	4293	6493	SO:0001583	missense			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014	26005	26005			24564	protein-coding gene	gene with protein product		615944			NA		Standard	NM_015531	XM_005273897	NA	Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000313663.7:c.717C>A	11.37:g.73850003G>T	ENSP00000323339:p.Asp239Glu	NA	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	37	CCDS31636.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422539	0.43020	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000289350;ENST00000539061	T;T	0.11169	2.8;2.86	5.84	4.93	0.64822	.	0.054285	0.64402	D	0.000001	T	0.30947	0.0781	M	0.76002	2.32	0.31437	N	0.67244	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.17715	-1.0360	10	0.59425	D	0.04	-14.0972	11.5079	0.50476	0.0835:0.0:0.9165:0.0	.	239;239	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	E	239	ENSP00000334379:D239E;ENSP00000323339:D239E	ENSP00000289350:D239E	D	-	3	2	C2CD3	73527651	1.000000	0.71417	1.000000	0.80357	0.322000	0.28314	2.400000	0.44504	2.771000	0.95319	0.655000	0.94253	GAC	C2CD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398210.1		-	ENST00000313663.7	Missense_Mutation	SNP	11 : 73850003 - 73850003 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	239	39
ZNF524	147807	broad.mit.edu	37	19	56113511	56113511	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56113511G>A	ENST00000591046.1	+	1	267	c.33G>A	c.(31-33)tcG>tcA	p.S11S	ZNF524_ENST00000301073.3_Silent_p.S11S			Q96C55	ZN524_HUMAN	zinc finger protein 524	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S11S(1)		breast(1)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CGTTGCCTTCGCCTTTGCCCG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											41	45	43			NA	NA	19		NA											NA				56113511		2203	4300	6503	SO:0001819	synonymous_variant			BC014666	CCDS12929.1	19q13.43	2013-01-08				ENSG00000171443	147807	147807		Zinc fingers, C2H2-type	28322	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_153219	NM_153219	NA	Approved	MGC23143	uc002qlk.1	Q96C55		ENST00000591046.1:c.33G>A	19.37:g.56113511G>A		NA	Q6NW31|Q96IL7	37	CCDS12929.1																																																																																			ZNF524-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457938.1		+	ENST00000591046.1	Silent	SNP	19 : 56113511 - 56113511 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	567	120
KIAA0930	23313	broad.mit.edu	37	22	45601152	45601152	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45601152C>A	ENST00000336156.5	-	5	527	c.462G>T	c.(460-462)gaG>gaT	p.E154D	KIAA0930_ENST00000443310.3_Missense_Mutation_p.E136D|KIAA0930_ENST00000251993.7_Missense_Mutation_p.E159D|KIAA0930_ENST00000391627.2_Missense_Mutation_p.E120D	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	NA							protein binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						TCTTGGACTCCTCCCCCTTGC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	140	153			NA	NA	22		NA											NA				45601152		2203	4300	6503	SO:0001583	missense			AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364	23313	23313			1314	protein-coding gene	gene with protein product			chromosome 22 open reading frame 9	C22orf9	NA	10231032	Standard	NM_001009880	NM_015264	NA	Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.462G>T	22.37:g.45601152C>A	ENSP00000336720:p.Glu154Asp	NA	B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	37	CCDS33665.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141118	0.56936	.	.	ENSG00000100364	ENST00000336156;ENST00000423262;ENST00000251993;ENST00000391627;ENST00000443310;ENST00000414854;ENST00000424508	.	.	.	4.39	-3.56	0.04626	.	0.097389	0.64402	D	0.000002	T	0.62368	0.2422	L	0.46741	1.465	0.58432	D	0.999997	D;D;B;P	0.57257	0.979;0.961;0.433;0.659	D;P;B;B	0.71414	0.973;0.63;0.172;0.401	T	0.58624	-0.7604	9	0.30078	T	0.28	-31.1866	12.9675	0.58492	0.0:0.5595:0.0:0.4405	.	136;154;159;225	B0AZU2;Q6ICG6;Q6ICG6-2;Q8IUY4	.;K0930_HUMAN;.;.	D	154;39;159;120;136;120;136	.	ENSP00000251993:E159D	E	-	3	2	KIAA0930	43979816	0.937000	0.31787	0.916000	0.36221	0.919000	0.55068	0.113000	0.15499	-1.272000	0.02427	-1.134000	0.01955	GAG	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321975.2		-	ENST00000336156.5	Missense_Mutation	SNP	22 : 45601152 - 45601152 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	440	78
RMDN2	151393	broad.mit.edu	37	2	38179198	38179198	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:38179198A>C	ENST00000407257.1	+	2	987	c.840A>C	c.(838-840)aaA>aaC	p.K280N	RMDN2_ENST00000402091.3_Missense_Mutation_p.K280N|RMDN2_ENST00000234195.3_Missense_Mutation_p.K280N|RMDN2_ENST00000354545.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000417700.2_Intron					regulator of microtubule dynamics 2	NA											NA						TCCTCCATAAAGCTGGATTTT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	94	93			NA	NA	2		NA											NA				38179198		2203	4299	6502	SO:0001583	missense			AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841	151393	151393			26567	protein-coding gene	gene with protein product		611872	family with sequence similarity 82, member A1	FAM82A, FAM82A1	NA	12477932	Standard	NM_144713	XM_005264161	NA	Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000407257.1:c.840A>C	2.37:g.38179198A>C	ENSP00000385049:p.Lys280Asn	NA		37		.	.	.	.	.	.	.	.	.	.	A	4.017	0.000662	0.07819	.	.	ENSG00000115841	ENST00000407257;ENST00000234195;ENST00000402091	T;T	0.44083	0.93;0.93	3.91	-6.92	0.01644	.	.	.	.	.	T	0.19046	0.0457	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26326	-1.0106	9	0.87932	D	0	-0.3811	4.447	0.11602	0.5497:0.1792:0.0:0.2711	.	280	Q96LZ7-2	.	N	280	ENSP00000385049:K280N;ENSP00000234195:K280N	ENSP00000234195:K280N	K	+	3	2	FAM82A1	38032702	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.328000	0.02680	-1.468000	0.01892	-0.624000	0.04008	AAA	RMDN2-005	PUTATIVE	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000325578.1		+	ENST00000407257.1	Missense_Mutation	SNP	2 : 38179198 - 38179198 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	623	129
LRRC25	126364	broad.mit.edu	37	19	18507290	18507290	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18507290C>T	ENST00000339007.3	-	1	1137	c.484G>A	c.(484-486)Gcc>Acc	p.A162T	LRRC25_ENST00000595840.1_Missense_Mutation_p.A162T	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	162						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						GTTGCAGAGGCCAGGCCAGGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	27	27			NA	NA	19		NA											NA				18507290		2202	4298	6500	SO:0001583	missense			AK095435	CCDS12377.1	19p13.11	2013-09-20			ENSG00000175489	ENSG00000175489	126364	126364			29806	protein-coding gene	gene with protein product		607518			NA	12384430	Standard	NM_145256	NM_145256	NA	Approved	MAPA, FLJ38116	uc002niw.3	Q8N386	OTTHUMG00000183361	ENST00000339007.3:c.484G>A	19.37:g.18507290C>T	ENSP00000340983:p.Ala162Thr	NA	Q6IQ00|Q8N9A5	37	CCDS12377.1	.	.	.	.	.	.	.	.	.	.	C	9.150	1.016135	0.19355	.	.	ENSG00000175489	ENST00000339007	T	0.33216	1.42	3.76	-7.52	0.01341	.	2.386640	0.02216	N	0.063617	T	0.20007	0.0481	L	0.40543	1.245	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.10268	-1.0637	10	0.36615	T	0.2	-0.4435	1.8738	0.03214	0.4333:0.3128:0.0959:0.158	.	162	Q8N386	LRC25_HUMAN	T	162	ENSP00000340983:A162T	ENSP00000340983:A162T	A	-	1	0	LRRC25	18368290	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-3.526000	0.00441	-3.308000	0.00191	-0.500000	0.04577	GCC	LRRC25-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466342.1		-	ENST00000339007.3	Missense_Mutation	SNP	19 : 18507290 - 18507290 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	271	58
FAT2	2196	broad.mit.edu	37	5	150920160	150920160	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150920160C>T	ENST00000261800.5	-	10	9019	c.9007G>A	c.(9007-9009)Gac>Aac	p.D3003N		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3003	Cadherin 26.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCATTGACGTCCAGGACAAAG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	79	84			NA	NA	5		NA											NA				150920160		2203	4300	6503	SO:0001583	missense			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570	2196	2196		Cadherins / Cadherin-related	3596	protein-coding gene	gene with protein product	cadherin-related family member 9	604269	FAT tumor suppressor (Drosophila) homolog 2, FAT tumor suppressor homolog 2 (Drosophila)		NA	9693030	Standard	NM_001447	NM_001447	NA	Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.9007G>A	5.37:g.150920160C>T	ENSP00000261800:p.Asp3003Asn	NA	O75091|Q9NSR7	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	34	5.367829	0.95900	.	.	ENSG00000086570	ENST00000261800	T	0.03468	3.92	5.12	5.12	0.69794	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.64402	D	0.000004	T	0.24236	0.0587	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.03773	-1.1005	10	0.52906	T	0.07	.	18.5669	0.91120	0.0:1.0:0.0:0.0	.	3003	Q9NYQ8	FAT2_HUMAN	N	3003	ENSP00000261800:D3003N	ENSP00000261800:D3003N	D	-	1	0	FAT2	150900353	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.755000	0.85180	2.401000	0.81631	0.462000	0.41574	GAC	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252434.1		-	ENST00000261800.5	Missense_Mutation	SNP	5 : 150920160 - 150920160 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	212	31
KNTC1	9735	broad.mit.edu	37	12	123072361	123072361	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123072361A>G	ENST00000450485.2	+	26	2417				KNTC1_ENST00000333479.7_Silent_p.S1278S			P50748	KNTC1_HUMAN	kinetochore associated 1	NA					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TGGTTGGTTCATTTGGTACCT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	123	127			NA	NA	12		NA											NA				123072361		1871	4121	5992	SO:0001627	intron_variant				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445	9735	9735			17255	protein-coding gene	gene with protein product	rough deal homolog (Drosophila)	607363			NA	11146660, 11590237	Standard		NM_014708	NA	Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000450485.2:c.2271+13434A>G	12.37:g.123072361A>G		NA	A7E2C4	37																																																																																				KNTC1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000396109.2		+	ENST00000450485.2	Intron	SNP	12 : 123072361 - 123072361 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	161	29
NRXN2	9379	broad.mit.edu	37	11	64410050	64410050	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64410050C>T	ENST00000301894.2	-	1	737	c.226G>A	c.(226-228)Gcc>Acc	p.A76T	NRXN2_ENST00000409571.1_Intron|NRXN2_ENST00000377559.3_Intron|NRXN2_ENST00000377551.1_Intron|NRXN2_ENST00000265459.6_Intron	NM_138734.2	NP_620063.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	0	Laminin G-like 1.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CGGTTGATGGCGATGGGCACG	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	37	41			NA	NA	11		NA											NA				64410050		2201	4296	6497	SO:0001583	missense				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076	9379	9379			8009	protein-coding gene	gene with protein product	neurexin II	600566			NA	1621094	Standard	NM_015080	NM_015080	NA	Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000301894.2:c.226G>A	11.37:g.64410050C>T	ENSP00000301894:p.Ala76Thr	NA	A7E2C1|Q9Y2D6	37	CCDS8078.1	.	.	.	.	.	.	.	.	.	.	c	19.99	3.928373	0.73327	.	.	ENSG00000110076	ENST00000301894;ENST00000423049	T;T	0.55930	0.49;0.85	1.81	0.537	0.17144	.	.	.	.	.	T	0.42899	0.1223	L	0.46157	1.445	0.80722	D	1	D	0.64830	0.994	B	0.43950	0.437	T	0.47459	-0.9116	9	0.87932	D	0	.	6.4694	0.21999	0.2853:0.7147:0.0:0.0	.	76	P58401	NRX2B_HUMAN	T	76;37	ENSP00000301894:A76T;ENSP00000407374:A37T	ENSP00000301894:A76T	A	-	1	0	NRXN2	64166626	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	3.311000	0.51919	0.936000	0.37367	0.176000	0.17051	GCC	NRXN2-003	NOVEL	not_organism_supported|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000141952.1		-	ENST00000301894.2	Missense_Mutation	SNP	11 : 64410050 - 64410050 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	146	23
LPPR4	0	broad.mit.edu	37	1	99771527	99771527	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:99771527C>T	ENST00000370185.3	+	7	1750	c.1253C>T	c.(1252-1254)cCg>cTg	p.P418L	LPPR4_ENST00000370184.1_Missense_Mutation_p.P260L|LPPR4_ENST00000457765.1_Missense_Mutation_p.P360L	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		418							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AATACCTTGCCGCGAGCCAAT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	56	56			NA	NA	1		NA											NA				99771527		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000370185.3:c.1253C>T	1.37:g.99771527C>T	ENSP00000359204:p.Pro418Leu	NA	O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	37	CCDS757.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996051	0.54147	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.70869	0.15;-0.52;-0.34	5.71	5.71	0.89125	.	0.272209	0.42682	D	0.000671	T	0.80954	0.4723	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.987	T	0.78570	-0.2153	9	.	.	.	-20.7641	19.8478	0.96722	0.0:1.0:0.0:0.0	.	360;418	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	L	418;360;418;260	ENSP00000359204:P418L;ENSP00000394913:P360L;ENSP00000359203:P260L	.	P	+	2	0	RP4-788L13.1	99544115	1.000000	0.71417	0.950000	0.38849	0.185000	0.23345	7.212000	0.77941	2.685000	0.91497	0.650000	0.86243	CCG	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029670.2		+	ENST00000370185.3	Missense_Mutation	SNP	1 : 99771527 - 99771527 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	255	61
ARRDC5	645432	broad.mit.edu	37	19	4896825	4896825	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4896825G>A	ENST00000381781.2	-	2	358	c.359C>T	c.(358-360)cCt>cTt	p.P120L		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	120					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		GAAGGTAGAAGGAAGCCTGGG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	153	155			NA	NA	19		NA											NA				4896825		1935	4142	6077	SO:0001583	missense				CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784	645432	645432			31407	protein-coding gene	gene with protein product					NA	12886014	Standard	XM_292803	NM_001080523	NA	Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.359C>T	19.37:g.4896825G>A	ENSP00000371200:p.Pro120Leu	NA		37	CCDS45929.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174604	0.38413	.	.	ENSG00000205784	ENST00000381781	T	0.32753	1.44	4.37	4.37	0.52481	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.000000	0.40469	N	0.001088	T	0.56949	0.2020	M	0.80508	2.5	0.46749	D	0.999188	D	0.89917	1.0	D	0.91635	0.999	T	0.62534	-0.6834	10	0.66056	D	0.02	-14.491	14.3371	0.66598	0.0:0.0:1.0:0.0	.	120	A6NEK1	ARRD5_HUMAN	L	120	ENSP00000371200:P120L	ENSP00000371200:P120L	P	-	2	0	ARRDC5	4847825	0.989000	0.36119	0.790000	0.31976	0.387000	0.30353	3.190000	0.50973	2.453000	0.82957	0.579000	0.79373	CCT	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450443.1		-	ENST00000381781.2	Missense_Mutation	SNP	19 : 4896825 - 4896825 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	431	16
NAALADL2	254827	broad.mit.edu	37	3	175165072	175165072	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:175165072C>A	ENST00000454872.1	+	6	1274	c.1146C>A	c.(1144-1146)atC>atA	p.I382I	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	382					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TGCAGCCCATCTCTGCACCCC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	71	73			NA	NA	3		NA											NA				175165072		1877	4124	6001	SO:0001819	synonymous_variant				CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694	254827	254827			23219	protein-coding gene	gene with protein product	glutamate carboxypeptidase II-type non-peptidase homologue	608806			NA	15168106	Standard	NM_207015	NM_207015	NA	Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.1146C>A	3.37:g.175165072C>A		NA	Q658X9|Q6H9J8|Q6H9J9|Q6PG38	37	CCDS46960.1																																																																																			NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347390.2		+	ENST00000454872.1	Silent	SNP	3 : 175165072 - 175165072 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	71	11
ASIC1	41	broad.mit.edu	37	12	50475404	50475404	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50475404G>A	ENST00000228468.4	+	12	2082	c.1697G>A	c.(1696-1698)cGa>cAa	p.R566Q	ASIC1_ENST00000447966.2_Missense_Mutation_p.R520Q|ASIC1_ENST00000552438.1_Missense_Mutation_p.R554Q	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	520					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding				NA					Amiloride(DB00594)	CATCCGGCCCGAGGCACGTTC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	50	54			NA	NA	12		NA											NA				50475404		2203	4300	6503	SO:0001583	missense			U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881	41	41		Ion channels / Acid-sensing (proton-gated) ion channels	100	protein-coding gene	gene with protein product		602866	amiloride-sensitive cation channel 2, neuronal	ACCN2	NA	9037075	Standard	NM_020039	NM_001095	NA	Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000228468.4:c.1697G>A	12.37:g.50475404G>A	ENSP00000228468:p.Arg566Gln	NA	A3KN86|P78349|Q96CV2	37	CCDS8796.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.71|13.71	2.318406|2.318406	0.40996|0.40996	.|.	.|.	ENSG00000110881|ENSG00000110881	ENST00000453327|ENST00000228468;ENST00000447966;ENST00000552438	.|T;T;T	.|0.61980	.|0.29;0.07;0.06	4.5|4.5	4.5|4.5	0.54988|0.54988	.|.	.|0.235549	.|0.27109	.|N	.|0.020897	T|T	0.38983|0.38983	0.1061|0.1061	N|N	0.02315|0.02315	-0.6|-0.6	0.44024|0.44024	D|D	0.996741|0.996741	.|B;B	.|0.19583	.|0.024;0.037	.|B;B	.|0.23018	.|0.003;0.043	T|T	0.25676|0.25676	-1.0125|-1.0125	5|10	.|0.25106	.|T	.|0.35	-3.9443|-3.9443	17.5798|17.5798	0.87963|0.87963	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|520;566	.|P78348;P78348-1	.|ACCN2_HUMAN;.	K|Q	388|566;520;554	.|ENSP00000228468:R566Q;ENSP00000400228:R520Q;ENSP00000450247:R554Q	.|ENSP00000228468:R566Q	E|R	+|+	1|2	0|0	ACCN2|ACCN2	48761671|48761671	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.381000|5.381000	0.66208|0.66208	2.238000|2.238000	0.73509|0.73509	0.462000|0.462000	0.41574|0.41574	GAG|CGA	ASIC1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406003.2		+	ENST00000228468.4	Missense_Mutation	SNP	12 : 50475404 - 50475404 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	46
TMEM151A	256472	broad.mit.edu	37	11	66062461	66062461	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66062461C>A	ENST00000327259.4	+	2	888	c.744C>A	c.(742-744)ggC>ggA	p.G248G		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	248						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						CCAACGAGGGCCTGGACGACT	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	11	12			NA	NA	11		NA											NA				66062461		2139	4144	6283	SO:0001819	synonymous_variant			BC033898	CCDS8133.1	11q13.2	2007-10-25	2007-10-25	2007-10-25	ENSG00000179292	ENSG00000179292	256472	256472			28497	protein-coding gene	gene with protein product			transmembrane protein 151	TMEM151	NA	12477932	Standard	NM_153266	NM_153266	NA	Approved	MGC33486	uc001ohl.3	Q8N4L1	OTTHUMG00000166920	ENST00000327259.4:c.744C>A	11.37:g.66062461C>A		NA	Q8ND14	37	CCDS8133.1																																																																																			TMEM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391897.1		+	ENST00000327259.4	Silent	SNP	11 : 66062461 - 66062461 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	84	19
DYNC1H1	1778	broad.mit.edu	37	14	102493846	102493846	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102493846C>A	ENST00000360184.4	+	46	9177	c.9013C>A	c.(9013-9015)Ctg>Atg	p.L3005M		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3005	AAA 4 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTCTGGATTCCTGGAGCGAAT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	117	119			NA	NA	14		NA											NA				102493846		2203	4300	6503	SO:0001583	missense			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102	1778	1778		Cytoplasmic dyneins	2961	protein-coding gene	gene with protein product		600112	dynein, cytoplasmic, heavy polypeptide 1	DNECL, DNCL, DNCH1	NA	16260502, 8666668	Standard	NM_001376	NM_001376	NA	Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.9013C>A	14.37:g.102493846C>A	ENSP00000348965:p.Leu3005Met	NA	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566117	0.65651	.	.	ENSG00000197102	ENST00000360184	T	0.58358	0.34	5.71	2.65	0.31530	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.073611	0.56097	D	0.000040	T	0.80048	0.4552	H	0.98295	4.195	0.58432	D	0.999992	D	0.89917	1.0	D	0.75484	0.986	T	0.81595	-0.0861	10	0.87932	D	0	.	8.3586	0.32346	0.0:0.5972:0.0:0.4028	.	3005	Q14204	DYHC1_HUMAN	M	3005	ENSP00000348965:L3005M	ENSP00000348965:L3005M	L	+	1	2	DYNC1H1	101563599	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.192000	0.32150	0.641000	0.30601	-0.192000	0.12808	CTG	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414574.1		+	ENST00000360184.4	Missense_Mutation	SNP	14 : 102493846 - 102493846 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	707	124
ARID3A	1820	broad.mit.edu	37	19	971939	971939	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:971939C>T	ENST00000263620.3	+	9	1983	c.1656C>T	c.(1654-1656)ggC>ggT	p.G552G		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	552	Gly-rich.|Important for cytoplasmic localization (By similarity).					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.G552G(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGGAggcggcggcggcggcg	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(29;54 1022 32760 50921)							NA				1	Substitution - coding silent(1)	endometrium(1)											22	30	28			NA	NA	19		NA											NA				971939		2198	4283	6481	SO:0001819	synonymous_variant			U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017	1820	1820		-	3031	protein-coding gene	gene with protein product		603265	dead ringer-like 1 (Drosophila), AT rich interactive domain 3A (BRIGHT- like)	DRIL1	NA	9722953	Standard	NM_005224	NM_005224	NA	Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.1656C>T	19.37:g.971939C>T		NA	Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	37	CCDS12050.1																																																																																			ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458219.1		+	ENST00000263620.3	Silent	SNP	19 : 971939 - 971939 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	66
DYNC1LI2	1783	broad.mit.edu	37	16	66785491	66785491	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66785491C>A	ENST00000440564.2	-	1	6	c.4G>T	c.(4-6)Gcg>Tcg	p.A2S	DYNC1LI2_ENST00000379482.2_Missense_Mutation_p.A2S|DYNC1LI2_ENST00000258198.2_Missense_Mutation_p.A2S|DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.A2S			O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	2					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		CCCACCGGCGCCATCTTGCCA	0.756		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	16	15			NA	NA	16		NA											NA				66785491		2071	4067	6138	SO:0001583	missense			AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720	1783	1783		Cytoplasmic dyneins	2966	protein-coding gene	gene with protein product		611406	dynein, cytoplasmic, light intermediate polypeptide 2	DNCLI2	NA	16260502	Standard	NM_006141	NM_006141	NA	Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000440564.2:c.4G>T	16.37:g.66785491C>A	ENSP00000408566:p.Ala2Ser	NA	A8K6V1|Q8TAT3	37		.	.	.	.	.	.	.	.	.	.	C	24.9	4.576714	0.86645	.	.	ENSG00000135720	ENST00000258198;ENST00000379482;ENST00000443351;ENST00000440564	T;T;T;T	0.50277	2.17;0.77;0.75;1.16	3.9	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.45013	0.1321	N	0.08118	0	0.49213	D	0.999766	B;B;P;D	0.63880	0.037;0.001;0.953;0.993	B;B;D;D	0.70227	0.017;0.001;0.935;0.968	T	0.38972	-0.9636	10	0.18276	T	0.48	-9.9804	14.7925	0.69854	0.0:1.0:0.0:0.0	.	2;2;2;2	B4E2E0;B4DHD8;B4DZP4;O43237	.;.;.;DC1L2_HUMAN	S	2	ENSP00000258198:A2S;ENSP00000368795:A2S;ENSP00000394289:A2S;ENSP00000408566:A2S	ENSP00000258198:A2S	A	-	1	0	DYNC1LI2	65342992	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.106000	0.50322	1.985000	0.57927	0.557000	0.71058	GCG	DYNC1LI2-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000421036.1		-	ENST00000440564.2	Missense_Mutation	SNP	16 : 66785491 - 66785491 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	303	60
CCM2	83605	broad.mit.edu	37	7	45109511	45109511	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45109511G>A	ENST00000475551.1	+	6	1438	c.678G>A	c.(676-678)gcG>gcA	p.A226A	CCM2_ENST00000474617.1_Intron|CCM2_ENST00000381112.3_Silent_p.A253A|CCM2_ENST00000541586.1_Silent_p.A174A|CCM2_ENST00000258781.6_Silent_p.A232A|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000544363.1_Intron			Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	232	PID.				endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding			NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TGGACAGAGCGATATTTGATG	0.607		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	129	120	123		759,522,,696	-6.1	0.9	7		123	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,intron,coding-synonymous	CCM2	NM_001029835.2,NM_001167934.1,NM_001167935.1,NM_031443.3	,,,	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	,,,	253/466,174/387,,232/445	45109511	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280	83605	83605			21708	protein-coding gene	gene with protein product	malcavernin	607929	chromosome 7 open reading frame 22	C7orf22	NA	9811928	Standard	NM_031443	NM_001029835	NA	Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000475551.1:c.678G>A	7.37:g.45109511G>A		NA	A4D2L4|D3DVL4|Q71RE5|Q8TAT4	37		.	.	.	.	.	.	.	.	.	.	G	11.34	1.611161	0.28712	0.0	1.16E-4	ENSG00000136280	ENST00000480382	.	.	.	5.32	-6.13	0.02118	.	.	.	.	.	T	0.39200	0.1069	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43718	-0.9374	4	.	.	.	-30.244	3.9718	0.09457	0.5419:0.2266:0.1462:0.0853	.	.	.	.	Q	58	.	.	R	+	2	0	CCM2	45076036	0.012000	0.17670	0.898000	0.35279	0.996000	0.88848	-0.853000	0.04303	-0.789000	0.04498	-0.136000	0.14681	CGA	CCM2-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000353675.1		+	ENST00000475551.1	Silent	SNP	7 : 45109511 - 45109511 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	483	69
NELFE	7936	broad.mit.edu	37	6	31920095	31920095	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31920095G>A	ENST00000375429.3	-	11	1352	c.1126C>T	c.(1126-1128)Ctt>Ttt	p.L376F	NELFE_ENST00000375425.5_Missense_Mutation_p.L383F|NELFE_ENST00000444811.2_Missense_Mutation_p.L346F	NM_002904.5	NP_002895.3			negative elongation factor complex member E	NA											NA						CCATCCACAAGGTTTTCCTTG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	111	119			NA	NA	6		NA											NA				31920095		2203	4300	6503	SO:0001583	missense			M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356	7936	7936		RNA binding motif (RRM) containing	13974	protein-coding gene	gene with protein product		154040	RD RNA-binding protein, RD RNA binding protein	RDBP	NA		Standard		XM_006715205	NA	Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.1126C>T	6.37:g.31920095G>A	ENSP00000364578:p.Leu376Phe	NA		37	CCDS4730.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733648	0.69189	.	.	ENSG00000204356	ENST00000375429;ENST00000375425;ENST00000444811	T;T;T	0.50277	0.76;0.75;0.75	6.07	6.07	0.98685	.	0.270209	0.25735	N	0.028642	T	0.41558	0.1164	N	0.08118	0	0.37638	D	0.921935	D;D	0.71674	0.995;0.998	D;D	0.75484	0.969;0.986	T	0.55952	-0.8059	10	0.87932	D	0	-10.5148	16.144	0.81551	0.0:0.0:1.0:0.0	.	346;376	B4DUN1;P18615	.;NELFE_HUMAN	F	376;383;346	ENSP00000364578:L376F;ENSP00000364574:L383F;ENSP00000388400:L346F	ENSP00000364574:L383F	L	-	1	0	RDBP	32028074	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.292000	0.51772	2.884000	0.98904	0.655000	0.94253	CTT	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076047.4		-	ENST00000375429.3	Missense_Mutation	SNP	6 : 31920095 - 31920095 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	305	60
SH3GLB1	51100	broad.mit.edu	37	1	87185243	87185243	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:87185243C>T	ENST00000370558.4	+	3	592	c.268C>T	c.(268-270)Cgt>Tgt	p.R90C	SH3GLB1_ENST00000482504.1_Missense_Mutation_p.R90C|SH3GLB1_ENST00000535010.1_5'UTR	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	90	BAR.				anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		AGCTCCAAGTCGTATAAACAA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	77	76			NA	NA	1		NA											NA				87185243		2203	4300	6503	SO:0001583	missense			AF263293	CCDS710.1, CCDS55612.1, CCDS55613.1, CCDS72819.1	1p22.3	2012-04-17	2001-12-04		ENSG00000097033	ENSG00000097033	51100	51100		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	10833	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 70	609287	SH3-domain, GRB2-like, endophilin B1		NA	11161816, 11259440	Standard	NM_016009	NM_016009	NA	Approved	CGI-61, KIAA0491, Bif-1, PPP1R70	uc001dly.3	Q9Y371	OTTHUMG00000010257	ENST00000370558.4:c.268C>T	1.37:g.87185243C>T	ENSP00000473267:p.Arg90Cys	NA	Q5H8U5|Q9H3Z0|Q9NR47|Q9NYA9	37	CCDS710.1	.	.	.	.	.	.	.	.	.	.	C	32	5.165477	0.94768	.	.	ENSG00000097033	ENST00000212369;ENST00000482504	T	0.32272	1.46	5.95	5.95	0.96441	BAR (3);	0.000000	0.85682	D	0.000000	T	0.61426	0.2346	M	0.90252	3.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.67968	-0.5533	10	0.87932	D	0	-0.4584	20.3748	0.98911	0.0:1.0:0.0:0.0	.	90;90	Q9Y371-2;Q9Y371	.;SHLB1_HUMAN	C	90	ENSP00000418744:R90C	ENSP00000212369:R90C	R	+	1	0	SH3GLB1	86957831	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.818000	0.86416	2.817000	0.96982	0.563000	0.77884	CGT	SH3GLB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000028287.2		+	ENST00000370558.4	Missense_Mutation	SNP	1 : 87185243 - 87185243 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	334	18
PRSS12	8492	broad.mit.edu	37	4	119234403	119234403	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119234403A>G	ENST00000296498.3	-	7	1724	c.1442T>C	c.(1441-1443)gTt>gCt	p.V481A		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	481	SRCR 3.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						GGCAATGCTAACATCTTCGCG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	80	87			NA	NA	4		NA											NA				119234403		2203	4300	6503	SO:0001583	missense			AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099	8492	8492		Serine peptidases / Serine peptidases	9477	protein-coding gene	gene with protein product		606709			NA	9540828, 9245503	Standard		NM_003619	NA	Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.1442T>C	4.37:g.119234403A>G	ENSP00000296498:p.Val481Ala	NA	Q9UP16	37	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	A	10.58	1.389899	0.25118	.	.	ENSG00000164099	ENST00000296498	T	0.32272	1.46	5.92	4.75	0.60458	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.164162	0.53938	N	0.000056	T	0.31638	0.0803	N	0.17872	0.535	0.44424	D	0.997348	D	0.53462	0.96	P	0.57152	0.814	T	0.03374	-1.1043	10	0.22109	T	0.4	.	11.9127	0.52747	0.9322:0.0:0.0678:0.0	.	481	P56730	NETR_HUMAN	A	481	ENSP00000296498:V481A	ENSP00000296498:V481A	V	-	2	0	PRSS12	119453851	0.994000	0.37717	0.205000	0.23548	0.554000	0.35429	6.231000	0.72307	1.061000	0.40601	0.528000	0.53228	GTT	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256516.2		-	ENST00000296498.3	Missense_Mutation	SNP	4 : 119234403 - 119234403 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	274	44
IGHMBP2	3508	broad.mit.edu	37	11	68703961	68703961	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68703961G>A	ENST00000255078.3	+	13	2124	c.2013G>A	c.(2011-2013)acG>acA	p.T671T		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	671			T -> A (in dbSNP:rs622082).		cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GACCTGCTACGTCCACCAGGA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	40	38			NA	NA	11		NA											NA				68703961		2200	4293	6493	SO:0001819	synonymous_variant			L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740	3508	3508		Zinc fingers, AN1-type domain containing	5542	protein-coding gene	gene with protein product	cardiac transcription factor 1, zinc finger, AN1-type domain 7	600502			NA	8349627	Standard	NM_002180	NM_002180	NA	Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.2013G>A	11.37:g.68703961G>A		NA	A0PJD2|Q00443|Q14177	37	CCDS8187.1																																																																																			IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396862.1		+	ENST00000255078.3	Silent	SNP	11 : 68703961 - 68703961 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	426	104
PIWIL2	55124	broad.mit.edu	37	8	22161539	22161539	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22161539C>A	ENST00000521356.1	+	11	1295	c.1187C>A	c.(1186-1188)gCc>gAc	p.A396D	PIWIL2_ENST00000454009.2_Missense_Mutation_p.A396D|PIWIL2_ENST00000356766.6_Missense_Mutation_p.A396D			Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	396	PAZ.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CAAAGGCATGCCATTTATCAG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	105	109			NA	NA	8		NA											NA				22161539		2203	4300	6503	SO:0001583	missense			AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181	55124	55124		Argonaute/PIWI family	17644	protein-coding gene	gene with protein product	Hiwi-like, cancer/testis antigen 80	610312	piwi-like 2 (Drosophila)		NA	11279525, 12906857	Standard		NM_018068	NA	Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000521356.1:c.1187C>A	8.37:g.22161539C>A	ENSP00000428267:p.Ala396Asp	NA	A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|Q96SW6|Q9NW28	37		.	.	.	.	.	.	.	.	.	.	C	5.493	0.276038	0.10403	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.13307	2.6;2.6;2.6	5.78	4.91	0.64330	Argonaute/Dicer protein, PAZ (3);	0.451135	0.26082	N	0.026456	T	0.05686	0.0149	N	0.04260	-0.245	0.36010	D	0.837998	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.002	T	0.24977	-1.0145	10	0.08381	T	0.77	-47.1199	10.3046	0.43672	0.0:0.8473:0.0:0.1527	.	396;396	E7ECA4;Q8TC59	.;PIWL2_HUMAN	D	396	ENSP00000349208:A396D;ENSP00000428267:A396D;ENSP00000406956:A396D	ENSP00000349208:A396D	A	+	2	0	PIWIL2	22217484	0.600000	0.26899	0.998000	0.56505	0.726000	0.41606	1.119000	0.31258	1.595000	0.50050	-0.229000	0.12294	GCC	PIWIL2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000375437.1		+	ENST00000521356.1	Missense_Mutation	SNP	8 : 22161539 - 22161539 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	409	66
APTX	54840	broad.mit.edu	37	9	32987600	32987600	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32987600C>A	ENST00000379817.2	-	3	621	c.425G>T	c.(424-426)aGc>aTc	p.S142I	APTX_ENST00000468275.1_Missense_Mutation_p.S142I|APTX_ENST00000476858.1_Missense_Mutation_p.S102I|APTX_ENST00000463596.1_Missense_Mutation_p.S142I|APTX_ENST00000309615.3_Missense_Mutation_p.S156I|APTX_ENST00000379825.2_Missense_Mutation_p.S156I|APTX_ENST00000397172.3_Intron|APTX_ENST00000436040.2_Missense_Mutation_p.S142I|APTX_ENST00000379813.3_Missense_Mutation_p.S142I|APTX_ENST00000379819.1_Missense_Mutation_p.S156I			Q7Z2E3	APTX_HUMAN	aprataxin	156					cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding			endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		GCCAGAGTTGCTCCCAGGTTC	0.488		NA						Editing and processing nucleases						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	129	131			NA	NA	9		NA											NA				32987600		2203	4300	6503	SO:0001583	missense			AK000164	CCDS47956.1, CCDS56568.1, CCDS75827.1	9p13.3	2014-01-28	2003-04-03		ENSG00000137074	ENSG00000137074	54840	54840			15984	protein-coding gene	gene with protein product		606350	ataxia 1, early onset with hypoalbuminemia	AXA1	NA	11586299, 11586300	Standard	NM_017692	NM_175069	NA	Approved	FLJ20157, AOA, AOA1, EAOH, EOAHA	uc003zry.3	Q7Z2E3	OTTHUMG00000019759	ENST00000379817.2:c.425G>T	9.37:g.32987600C>A	ENSP00000369145:p.Ser142Ile	NA	A8MTN4|D3DRK9|D3DRL0|Q0P662|Q5T781|Q5T784|Q7Z2F3|Q7Z336|Q7Z5R5|Q7Z6V7|Q7Z6V8|Q9NXM5	37		.	.	.	.	.	.	.	.	.	.	C	3.624	-0.076943	0.07184	.	.	ENSG00000137074	ENST00000379825;ENST00000309615;ENST00000379817;ENST00000436040;ENST00000379819;ENST00000468275;ENST00000463596;ENST00000476858;ENST00000344355;ENST00000379813;ENST00000473221;ENST00000477119	D;D;D;T;D;D;D;D;D;D	0.91740	-1.92;-1.92;-1.91;0.85;-1.92;-1.91;-1.91;-2.9;-1.91;-2.42	5.28	0.073	0.14389	.	0.947215	0.09089	N	0.850069	D	0.86785	0.6016	L	0.56769	1.78	0.09310	N	1	B;P;B;P	0.39748	0.013;0.5;0.007;0.686	B;B;B;B	0.33750	0.011;0.116;0.022;0.169	T	0.75348	-0.3349	10	0.38643	T	0.18	-0.0846	5.0193	0.14352	0.0:0.5212:0.1438:0.335	.	102;156;88;156	C9JZ40;Q5T782;Q7Z2E3-5;Q7Z2E3	.;.;.;APTX_HUMAN	I	156;156;142;142;156;142;142;102;156;142;102;88	ENSP00000369153:S156I;ENSP00000311547:S156I;ENSP00000369145:S142I;ENSP00000400806:S142I;ENSP00000369147:S156I;ENSP00000420263:S142I;ENSP00000419846:S142I;ENSP00000419042:S102I;ENSP00000369141:S142I;ENSP00000419020:S102I	ENSP00000311547:S156I	S	-	2	0	APTX	32977600	0.004000	0.15560	0.055000	0.19348	0.113000	0.19764	0.523000	0.22925	0.078000	0.16900	0.650000	0.86243	AGC	APTX-011	NOVEL	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000355317.1		-	ENST00000379817.2	Missense_Mutation	SNP	9 : 32987600 - 32987600 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	726	117
GREM2	64388	broad.mit.edu	37	1	240656545	240656545	+	Silent	SNP	C	C	T	rs148064794		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240656545C>T	ENST00000318160.4	-	2	497	c.231G>A	c.(229-231)ccG>ccA	p.P77P		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	77	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			TCTGCCGCAGCGGCTGCGTCT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4405	2.1+/-5.4	0,1,2202	49	50	50		231	-7.2	1	1	dbSNP_134	50	0,8600		0,0,4300	no	coding-synonymous	GREM2	NM_022469.3		0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077		77/169	240656545	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AK024848	CCDS31070.1	1q43	2013-02-26	2013-02-26		ENSG00000180875	ENSG00000180875	64388	64388			17655	protein-coding gene	gene with protein product	protein related to DAN and cerberus	608832	gremlin 2, cysteine knot superfamily, homolog (Xenopus laevis), gremlin 2		NA	15039429	Standard	NM_022469	XM_005273226	NA	Approved	Prdc, FLJ21195, CKTSF1B2, DAND3	uc001hys.3	Q9H772	OTTHUMG00000039909	ENST00000318160.4:c.231G>A	1.37:g.240656545C>T		NA	Q86UD9	37	CCDS31070.1																																																																																			GREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096286.1		-	ENST00000318160.4	Silent	SNP	1 : 240656545 - 240656545 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	533	112
HSF2	3298	broad.mit.edu	37	6	122753094	122753094	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:122753094C>T	ENST00000368455.4	+	13	1532	c.1340C>T	c.(1339-1341)gCc>gTc	p.A447V	HSF2_ENST00000452194.1_Missense_Mutation_p.A429V	NM_004506.3	NP_004497.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	447					response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		CAGTATACCGCCTTTCCACTT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	120	119			NA	NA	6		NA											NA				122753094		2203	4300	6503	SO:0001583	missense			M65217	CCDS5124.1, CCDS47470.1	6q22	2008-08-29			ENSG00000025156	ENSG00000025156	3298	3298			5225	protein-coding gene	gene with protein product		140581			NA	1871106	Standard	NM_004506	NM_004506	NA	Approved		uc003pyu.2	Q03933	OTTHUMG00000016216	ENST00000368455.4:c.1340C>T	6.37:g.122753094C>T	ENSP00000357440:p.Ala447Val	NA	B4DGJ4|Q0VAH9|Q2M1K4|Q9H445	37	CCDS5124.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848981	0.71603	.	.	ENSG00000025156	ENST00000368455;ENST00000452194	.	.	.	5.46	5.46	0.80206	Vertebrate heat shock transcription factor (1);	0.246309	0.43919	D	0.000511	T	0.50051	0.1593	M	0.64404	1.975	0.45791	D	0.998672	B;P	0.46578	0.314;0.88	B;B	0.40636	0.044;0.335	T	0.61247	-0.7101	9	0.87932	D	0	-10.8781	19.2991	0.94136	0.0:1.0:0.0:0.0	.	429;447	Q03933-2;Q03933	.;HSF2_HUMAN	V	447;429	.	ENSP00000357440:A447V	A	+	2	0	HSF2	122794793	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	5.120000	0.64685	2.573000	0.86826	0.555000	0.69702	GCC	HSF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043520.1		+	ENST00000368455.4	Missense_Mutation	SNP	6 : 122753094 - 122753094 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	857	114
HSPB8	26353	broad.mit.edu	37	12	119631653	119631653	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119631653C>T	ENST00000281938.2	+	3	1252	c.581C>T	c.(580-582)aCc>aTc	p.T194I		NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	194					cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGGAAGTCACCTGTACCTGA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	84	86			NA	NA	12		NA											NA				119631653		2203	4300	6503	SO:0001583	missense			AF191017	CCDS9189.1	12q24.23	2014-09-17	2004-04-23				26353	26353		Heat shock proteins / HSPB	30171	protein-coding gene	gene with protein product		608014	heat shock 27kDa protein 8		NA	10833516, 11085516	Standard	NM_014365	NM_014365	NA	Approved	H11, E2IG1, HSP22, HspB8	uc001txb.3	Q9UJY1		ENST00000281938.2:c.581C>T	12.37:g.119631653C>T	ENSP00000281938:p.Thr194Ile	NA	B2R6A6|Q6FIH3|Q9UKS3	37	CCDS9189.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099369	0.56183	.	.	ENSG00000152137	ENST00000281938	D	0.87571	-2.27	4.29	4.29	0.51040	.	0.430101	0.24933	N	0.034450	T	0.80929	0.4718	N	0.24115	0.695	0.35132	D	0.768082	D	0.60160	0.987	P	0.47118	0.538	D	0.83617	0.0137	9	.	.	.	.	11.9741	0.53081	0.0:0.8241:0.1759:0.0	.	194	Q9UJY1	HSPB8_HUMAN	I	194	ENSP00000281938:T194I	.	T	+	2	0	HSPB8	118116036	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	2.887000	0.48586	2.396000	0.81511	0.561000	0.74099	ACC	HSPB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401647.1		+	ENST00000281938.2	Missense_Mutation	SNP	12 : 119631653 - 119631653 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	399	77
CHST11	50515	broad.mit.edu	37	12	105151191	105151191	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:105151191C>T	ENST00000303694.5	+	3	1108	c.669C>T	c.(667-669)aaC>aaT	p.N223N	CHST11_ENST00000549260.1_Silent_p.N218N	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	223					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	p.N223N(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						AGCGGAAGAACGCCACCCAGG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											126	107	114			NA	NA	12		NA											NA				105151191		2203	4300	6503	SO:0001819	synonymous_variant			AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	50515	50515	2.8.2.5	Sulfotransferases, membrane-bound	17422	protein-coding gene	gene with protein product		610128			NA	10781601	Standard	NM_018413	NM_018413	NA	Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.669C>T	12.37:g.105151191C>T		NA	A8K4F8|Q9NXY6|Q9NY36	37	CCDS9099.1																																																																																			CHST11-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405960.2		+	ENST00000303694.5	Silent	SNP	12 : 105151191 - 105151191 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	410	64
MAPK7	5598	broad.mit.edu	37	17	19286530	19286530	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19286530C>A	ENST00000308406.5	+	7	2823	c.2437C>A	c.(2437-2439)Ctc>Atc	p.L813I	MAPK7_ENST00000395604.3_Missense_Mutation_p.L813I|MAPK7_ENST00000299612.7_Missense_Mutation_p.L674I|MAPK7_ENST00000395602.4_Missense_Mutation_p.L813I|MAPK7_ENST00000571657.1_3'UTR	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	813					cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|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	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCTGCCTGACCTCCAGGACCC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	49	49			NA	NA	17		NA											NA				19286530		2203	4300	6503	SO:0001583	missense			U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	5598	5598	2.7.11.24	Mitogen-activated protein kinase cascade / Kinases	6880	protein-coding gene	gene with protein product	BMK1 kinase, extracellular-signal-regulated kinase 5	602521		PRKM7	NA	10072598, 7759517	Standard	NM_139033	NM_139032	NA	Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.2437C>A	17.37:g.19286530C>A	ENSP00000311005:p.Leu813Ile	NA	Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	37	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182562	0.78677	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;T;T;T	0.80480	-1.14;-1.38;-1.14;-1.14	4.91	4.91	0.64330	.	0.000000	0.56097	D	0.000022	T	0.82130	0.4970	L	0.54323	1.7	0.29680	N	0.841812	P	0.51057	0.941	P	0.49332	0.607	T	0.81733	-0.0798	10	0.87932	D	0	-18.1186	15.6104	0.76713	0.0:1.0:0.0:0.0	.	813	Q13164	MK07_HUMAN	I	813;674;813;813	ENSP00000311005:L813I;ENSP00000299612:L674I;ENSP00000378968:L813I;ENSP00000378966:L813I	ENSP00000299612:L674I	L	+	1	0	MAPK7	19227123	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.757000	0.62213	2.269000	0.75478	0.491000	0.48974	CTC	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132506.1		+	ENST00000308406.5	Missense_Mutation	SNP	17 : 19286530 - 19286530 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	53
UNC13C	440279	broad.mit.edu	37	15	54626001	54626001	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54626001G>A	ENST00000260323.11	+	15	4531	c.4531G>A	c.(4531-4533)Gac>Aac	p.D1511N	UNC13C_ENST00000545554.1_Missense_Mutation_p.D1511N|UNC13C_ENST00000537900.1_Missense_Mutation_p.D1509N	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1511					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAGACTGCAAGACCTGAAATC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	130	133			NA	NA	15		NA											NA				54626001		1851	4083	5934	SO:0001583	missense			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766	440279	440279			23149	protein-coding gene	gene with protein product		614568			NA		Standard	NM_173166	NM_001080534	NA	Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4531G>A	15.37:g.54626001G>A	ENSP00000260323:p.Asp1511Asn	NA	Q0P613|Q8ND48|Q96NP3	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	33	5.201310	0.94997	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.84370	-1.82;-1.84;-1.83	5.66	5.66	0.87406	.	0.047752	0.85682	D	0.000000	D	0.92685	0.7675	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.92876	0.6319	10	0.66056	D	0.02	.	17.5932	0.88003	0.0:0.0:1.0:0.0	.	1511;1511	F5H090;Q8NB66	.;UN13C_HUMAN	N	1511;1511;1509	ENSP00000260323:D1511N;ENSP00000438156:D1511N;ENSP00000442569:D1509N	ENSP00000260323:D1511N	D	+	1	0	UNC13C	52413293	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.575000	0.98187	2.826000	0.97356	0.655000	0.94253	GAC	UNC13C-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419028.3		+	ENST00000260323.11	Missense_Mutation	SNP	15 : 54626001 - 54626001 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	69	15
ZBTB45	84878	broad.mit.edu	37	19	59028114	59028114	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59028114C>A	ENST00000594051.1	-	2	1407	c.927G>T	c.(925-927)caG>caT	p.Q309H	ZBTB45_ENST00000600990.1_Missense_Mutation_p.Q309H|ZBTB45_ENST00000354590.3_Missense_Mutation_p.Q309H			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	309	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		TGCAGTCGGGCTGGACAGGGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(164;1383 2017 5233 27540 46677)							NA				0													36	37	37			NA	NA	19		NA											NA				59028114		2203	4298	6501	SO:0001583	missense			AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574	84878	84878		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	23715	protein-coding gene	gene with protein product			zinc finger protein 499	ZNF499	NA		Standard	NM_032792	NM_032792	NA	Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.927G>T	19.37:g.59028114C>A	ENSP00000469089:p.Gln309His	NA		37	CCDS12984.1	.	.	.	.	.	.	.	.	.	.	c	10.90	1.481198	0.26598	.	.	ENSG00000119574	ENST00000354590	T	0.09630	2.96	4.12	-4.62	0.03370	.	0.627301	0.14119	N	0.340177	T	0.03477	0.0100	N	0.08118	0	0.09310	N	1	B	0.31519	0.327	B	0.28232	0.087	T	0.30357	-0.9981	10	0.56958	D	0.05	.	2.0473	0.03563	0.1271:0.3098:0.1254:0.4378	.	309	Q96K62	ZBT45_HUMAN	H	309	ENSP00000346603:Q309H	ENSP00000346603:Q309H	Q	-	3	2	ZBTB45	63719926	0.000000	0.05858	0.036000	0.18154	0.541000	0.35023	-1.308000	0.02730	-0.845000	0.04179	0.467000	0.42956	CAG	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000467067.1		-	ENST00000594051.1	Missense_Mutation	SNP	19 : 59028114 - 59028114 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	344	62
ANKRD49	54851	broad.mit.edu	37	11	94231498	94231498	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94231498C>T	ENST00000544612.1	+	3	1017	c.520C>T	c.(520-522)Ctc>Ttc	p.L174F	ANKRD49_ENST00000544253.1_3'UTR|ANKRD49_ENST00000538535.1_3'UTR|ANKRD49_ENST00000302755.4_Missense_Mutation_p.L174F	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	174					positive regulation of transcription, DNA-dependent					autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AACAAAAGGCCTCTTGACCCC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(113;823 1621 4352 9582 22033)							NA				0													81	72	75			NA	NA	11		NA											NA				94231498		2201	4298	6499	SO:0001583	missense			AF025354	CCDS8300.1	11q21	2013-01-10				ENSG00000168876	54851	54851		Ankyrin repeat domain containing	25970	protein-coding gene	gene with protein product					NA	11162141	Standard	NM_017704	NM_017704	NA	Approved	FLJ20189, FGIF, GBIF	uc001pew.3	Q8WVL7		ENST00000544612.1:c.520C>T	11.37:g.94231498C>T	ENSP00000440396:p.Leu174Phe	NA	Q8NDF2|Q96JE5|Q9NXK7	37	CCDS8300.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.556860	0.65425	.	.	ENSG00000168876	ENST00000544612;ENST00000302755	T;T	0.70631	-0.5;-0.5	5.88	5.88	0.94601	Ankyrin repeat-containing domain (3);	0.341802	0.30695	N	0.009080	T	0.75766	0.3894	M	0.63428	1.95	0.31341	N	0.683661	D	0.61697	0.99	P	0.54759	0.76	T	0.80134	-0.1509	10	0.87932	D	0	-3.3387	9.9303	0.41519	0.0:0.8141:0.0:0.1859	.	174	Q8WVL7	ANR49_HUMAN	F	174	ENSP00000440396:L174F;ENSP00000303518:L174F	ENSP00000303518:L174F	L	+	1	0	ANKRD49	93871146	0.980000	0.34600	0.974000	0.42286	0.923000	0.55619	2.210000	0.42816	2.780000	0.95670	0.655000	0.94253	CTC	ANKRD49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396314.2		+	ENST00000544612.1	Missense_Mutation	SNP	11 : 94231498 - 94231498 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	338	63
BMP4	652	broad.mit.edu	37	14	54417345	54417345	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:54417345C>T	ENST00000245451.4	-	4	1025	c.632G>A	c.(631-633)cGg>cAg	p.R211Q	BMP4_ENST00000558984.1_Missense_Mutation_p.R211Q|BMP4_ENST00000417573.1_Missense_Mutation_p.R211Q|BMP4_ENST00000559087.1_Missense_Mutation_p.R211Q	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	211					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						AGTTTCCCACCGTGTCACATT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	102	105			NA	NA	14		NA											NA				54417345		2203	4300	6503	SO:0001583	missense			AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378	652	652		Bone morphogenetic proteins, Endogenous ligands	1071	protein-coding gene	gene with protein product		112262		BMP2B	NA	7558046, 7579580	Standard	NM_001202	NM_001202	NA	Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.632G>A	14.37:g.54417345C>T	ENSP00000245451:p.Arg211Gln	NA	Q9UM80	37	CCDS9715.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.013377	0.35511	.	.	ENSG00000125378	ENST00000245451;ENST00000417573	T;T	0.64260	-0.09;-0.09	5.09	3.11	0.35812	Transforming growth factor-beta, N-terminal (1);	0.417987	0.27126	N	0.020803	T	0.49064	0.1535	L	0.41824	1.3	0.30831	N	0.736733	B	0.18310	0.027	B	0.18871	0.023	T	0.51164	-0.8740	10	0.40728	T	0.16	.	8.2551	0.31751	0.0:0.7359:0.0:0.2641	.	211	P12644	BMP4_HUMAN	Q	211	ENSP00000245451:R211Q;ENSP00000394165:R211Q	ENSP00000245451:R211Q	R	-	2	0	BMP4	53487095	0.963000	0.33076	1.000000	0.80357	0.998000	0.95712	0.977000	0.29475	1.364000	0.46038	0.655000	0.94253	CGG	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276894.2		-	ENST00000245451.4	Missense_Mutation	SNP	14 : 54417345 - 54417345 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	597	84
CLIP3	25999	broad.mit.edu	37	19	36517490	36517490	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36517490C>T	ENST00000360535.4	-	5	787	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.R187Q	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	187					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTCCTCACCTCGCGGCCTCGC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	41	42			NA	NA	19		NA											NA				36517490		2203	4300	6503	SO:0001583	missense			AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270	25999	25999		Ankyrin repeat domain containing	24314	protein-coding gene	gene with protein product	CLIP-170-related, restin-like 1	607382			NA	11854307	Standard	NM_015526	NM_015526	NA	Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.560G>A	19.37:g.36517490C>T	ENSP00000353732:p.Arg187Gln	NA	A8K0E4|Q8WWL1|Q96C99|Q9UFT7	37	CCDS12486.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580515	0.65992	.	.	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	T	0.52983	0.64	4.41	4.41	0.53225	Ankyrin repeat-containing domain (4);	0.251724	0.37715	N	0.001976	T	0.25680	0.0625	N	0.25485	0.75	0.38366	D	0.944743	P	0.47604	0.898	B	0.32533	0.147	T	0.11155	-1.0599	10	0.28530	T	0.3	-13.0204	8.1798	0.31305	0.0:0.8928:0.0:0.1071	.	187	Q96DZ5	CLIP3_HUMAN	Q	187;69;163	ENSP00000353732:R187Q	ENSP00000353732:R187Q	R	-	2	0	CLIP3	41209330	0.970000	0.33590	0.634000	0.29324	0.830000	0.47004	1.817000	0.39002	2.279000	0.76181	0.455000	0.32223	CGA	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457426.1		-	ENST00000360535.4	Missense_Mutation	SNP	19 : 36517490 - 36517490 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	53
SLK	9748	broad.mit.edu	37	10	105761972	105761972	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105761972G>A	ENST00000369755.3	+	9	1581	c.1036G>A	c.(1036-1038)Gcc>Acc	p.A346T	SLK_ENST00000335753.4_Missense_Mutation_p.A346T	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	346	Glu-rich.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCTTAGTATCGCCAGCTCTGA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(111;540 1651 1927 4474 17706)							NA				0													71	76	74			NA	NA	10		NA											NA				105761972		2203	4300	6503	SO:0001583	missense				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613	9748	9748			11088	protein-coding gene	gene with protein product			SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast), STE20-like kinase (yeast)		NA	3526554	Standard	NM_014720	NM_014720	NA	Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.1036G>A	10.37:g.105761972G>A	ENSP00000358770:p.Ala346Thr	NA	D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	37	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759677	0.69763	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.24538	1.85;1.85	5.56	5.56	0.83823	Protein kinase-like domain (1);	0.060003	0.64402	D	0.000003	T	0.49558	0.1564	L	0.58669	1.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.955;0.99	T	0.33394	-0.9870	10	0.42905	T	0.14	.	19.5347	0.95244	0.0:0.0:1.0:0.0	.	346;346	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	T	346	ENSP00000336824:A346T;ENSP00000358770:A346T	ENSP00000336824:A346T	A	+	1	0	SLK	105751962	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	9.320000	0.96346	2.622000	0.88805	0.455000	0.32223	GCC	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050188.1		+	ENST00000369755.3	Missense_Mutation	SNP	10 : 105761972 - 105761972 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	616	102
CERKL	375298	broad.mit.edu	37	2	182413296	182413296	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182413296T>G	ENST00000410087.3	-	8	1209	c.1109A>C	c.(1108-1110)aAc>aCc	p.N370T	CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Missense_Mutation_p.N352T|CERKL_ENST00000339098.5_Missense_Mutation_p.N396T|CERKL_ENST00000374969.2_Missense_Mutation_p.N257T|CERKL_ENST00000374970.2_Missense_Mutation_p.N301T	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	396					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ATCAGAGCTGTTAAATGGTAA	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	102	102			NA	NA	2		NA											NA				182413296		2203	4300	6503	SO:0001583	missense			BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452	NA	375298			21699	protein-coding gene	gene with protein product			retinitis pigmentosa 26 (autosomal recessive)	RP26	NA	14681825	Standard		NR_027689	NA	Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000410087.3:c.1109A>C	2.37:g.182413296T>G	ENSP00000386725:p.Asn370Thr	NA	B2RPL2|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	37	CCDS46466.1	.	.	.	.	.	.	.	.	.	.	T	12.02	1.813822	0.32053	.	.	ENSG00000188452	ENST00000410087;ENST00000409440;ENST00000374969;ENST00000339098;ENST00000374970	T;T;T;T;T	0.30714	2.33;2.56;1.55;2.56;1.52	5.58	0.573	0.17363	.	1.269650	0.04866	N	0.445003	T	0.20373	0.0490	L	0.34521	1.04	0.09310	N	1	B;P;B;B;B	0.38195	0.212;0.622;0.152;0.199;0.126	B;B;B;B;B	0.36092	0.055;0.217;0.116;0.117;0.035	T	0.15321	-1.0441	10	0.13470	T	0.59	.	4.6924	0.12786	0.1415:0.3046:0.0:0.5539	.	352;257;301;370;396	B4DEY1;Q49MI3-4;Q49MI3-3;Q49MI3-2;Q49MI3	.;.;.;.;CERKL_HUMAN	T	370;352;257;396;301	ENSP00000386725:N370T;ENSP00000387080:N352T;ENSP00000364108:N257T;ENSP00000341159:N396T;ENSP00000364109:N301T	ENSP00000341159:N396T	N	-	2	0	CERKL	182121541	0.000000	0.05858	0.012000	0.15200	0.977000	0.68977	0.544000	0.23253	0.071000	0.16664	0.533000	0.62120	AAC	CERKL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334807.1		-	ENST00000410087.3	Missense_Mutation	SNP	2 : 182413296 - 182413296 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	193	32
SIRPG	55423	broad.mit.edu	37	20	1615981	1615981	+	Missense_Mutation	SNP	G	G	A	rs41275434	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1615981G>A	ENST00000381580.1	-	4	1093	c.914C>T	c.(913-915)gCg>gTg	p.A305V	SIRPG_ENST00000216927.4_Intron|RP11-77C3.3_ENST00000437384.1_RNA|SIRPG_ENST00000303415.3_Missense_Mutation_p.A338V|SIRPG_ENST00000381583.2_Intron|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000344103.4_Intron			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	338	Ig-like C1-type 2.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TTTGCTGACCGCCAGCTGCCC	0.507		NA												1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	EXOME	NA	NA	2e-04	SNP								NA				0								A	,VAL/ALA,	0,4406		0,0,2203	119	96	104		,1013,	-0.7	0	20	dbSNP_127	104	8,8592		0,8,4292	yes	intron,missense,intron	SIRPG	NM_001039508.1,NM_018556.3,NM_080816.2	,64,	0,8,6495	AA,AG,GG	NA	0.093,0.0,0.0615	,benign,	,338/388,	1615981	8,12998	2203	4300	6503	SO:0001583	missense			AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012	55423	55423		Signal-regulatory proteins, CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C1-set domain containing	15757	protein-coding gene	gene with protein product		605466	signal-regulatory protein beta 2	SIRPB2	NA	11185750, 16339511	Standard	NM_018556	XM_005260749	NA	Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000381580.1:c.914C>T	20.37:g.1615981G>A	ENSP00000370992:p.Ala305Val	NA	B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	37		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	6.004	0.369084	0.11352	0.0	9.3E-4	ENSG00000089012	ENST00000381580;ENST00000303415	T;T	0.12255	3.11;2.7	1.6	-0.664	0.11406	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	0.736109	0.12511	N	0.462442	T	0.09069	0.0224	M	0.65677	2.01	0.09310	N	1	P	0.50943	0.94	B	0.31442	0.13	T	0.26467	-1.0102	10	0.42905	T	0.14	.	2.2338	0.04003	0.1987:0.0:0.5027:0.2987	rs41275434	338	Q9P1W8	SIRPG_HUMAN	V	305;338	ENSP00000370992:A305V;ENSP00000305529:A338V	ENSP00000305529:A338V	A	-	2	0	SIRPG	1563981	0.000000	0.05858	0.004000	0.12327	0.033000	0.12548	0.175000	0.16762	-0.163000	0.10946	-1.051000	0.02340	GCG	SIRPG-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000077562.1		-	ENST00000381580.1	Missense_Mutation	SNP	20 : 1615981 - 1615981 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	451	83
EIF3L	51386	broad.mit.edu	37	22	38273869	38273869	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38273869G>A	ENST00000412331.2	+	11	1848	c.1266G>A	c.(1264-1266)tcG>tcA	p.S422S	EIF3L_ENST00000381683.6_Silent_p.S374S|EIF3L_ENST00000406934.1_Silent_p.S324S	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	422						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGTTCCTGTCGCCTGTAGTGC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	63	67			NA	NA	22		NA											NA				38273869		2203	4300	6503	SO:0001819	synonymous_variant			AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129	51386	51386			18138	protein-coding gene	gene with protein product			eukaryotic translation initiation factor 3, subunit 6 interacting protein, eukaryotic translation initiation factor 3, subunit E interacting protein	EIF3S6IP, EIF3EIP	NA	11042152, 11590142	Standard	NM_016091	NM_016091	NA	Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.1266G>A	22.37:g.38273869G>A		NA	B2RDG6|Q53HQ1|Q53HT4|Q5QTR1|Q5TI15|Q6ICD2	37	CCDS13960.1																																																																																			EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319551.2		+	ENST00000412331.2	Silent	SNP	22 : 38273869 - 38273869 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	483	77
EFCAB5	374786	broad.mit.edu	37	17	28380798	28380798	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28380798G>A	ENST00000394835.3	+	10	2018	c.1826G>A	c.(1825-1827)cGc>cAc	p.R609H	EFCAB5_ENST00000536908.2_Missense_Mutation_p.R553H|EFCAB5_ENST00000320856.5_Missense_Mutation_p.R609H|EFCAB5_ENST00000541045.1_Missense_Mutation_p.R266H|EFCAB5_ENST00000378738.3_Missense_Mutation_p.R609H|EFCAB5_ENST00000394832.2_Missense_Mutation_p.R609H	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	609							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CAAGGGTCACGCAGAGAGTCT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													246	236	239			NA	NA	17		NA											NA				28380798		2112	4227	6339	SO:0001583	missense			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927	374786	374786		EF-hand domain containing	24801	protein-coding gene	gene with protein product					NA		Standard	NM_198529	NM_198529	NA	Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.1826G>A	17.37:g.28380798G>A	ENSP00000378312:p.Arg609His	NA	B2RPN0|Q0VD68|Q6ZRM6|Q8NDG9	37	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881093	0.33255	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.78	-9.32	0.00643	.	1.031300	0.07709	N	0.941752	T	0.14270	0.0345	N	0.11560	0.145	0.09310	N	1	B;B;B;B;B;B	0.18610	0.017;0.029;0.011;0.029;0.001;0.006	B;B;B;B;B;B	0.12837	0.003;0.008;0.004;0.005;0.0;0.003	T	0.15378	-1.0439	10	0.15499	T	0.54	5.8403	2.6649	0.05041	0.4122:0.0884:0.3233:0.1761	.	553;553;609;609;609;609	B4DS75;F5GYL2;A8MSY9;B5MEA3;E7EVS9;A4FU69	.;.;.;.;.;EFCB5_HUMAN	H	553;352;266;609;609;609;609;553;415	ENSP00000440619:R553H;ENSP00000445575:R266H;ENSP00000378312:R609H;ENSP00000322003:R609H;ENSP00000378309:R609H;ENSP00000368012:R609H;ENSP00000417009:R415H	ENSP00000322003:R609H	R	+	2	0	EFCAB5	25404924	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.602000	0.00891	-1.290000	0.02372	-1.561000	0.00884	CGC	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256120.4		+	ENST00000394835.3	Missense_Mutation	SNP	17 : 28380798 - 28380798 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	726	119
NFKB1	4790	broad.mit.edu	37	4	103534584	103534584	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:103534584C>A	ENST00000226574.4	+	23	3062	c.2595C>A	c.(2593-2595)gtC>gtA	p.V865V	NFKB1_ENST00000505458.1_Silent_p.V864V|NFKB1_ENST00000394820.4_Silent_p.V864V|NFKB1_ENST00000600343.1_Silent_p.V684V	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	864	Death.|Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|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|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	TCTCACAGGTCTCTGGGGGTA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	51	52			NA	NA	4		NA											NA				103534584		2203	4300	6503	SO:0001819	synonymous_variant			M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320	4790	4790		Ankyrin repeat domain containing	7794	protein-coding gene	gene with protein product		164011			NA	1992489	Standard		NM_003998	NA	Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000226574.4:c.2595C>A	4.37:g.103534584C>A		NA	Q68D84|Q86V43|Q8N4X7|Q9NZC0	37	CCDS3657.1																																																																																			NFKB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253801.1		+	ENST00000226574.4	Silent	SNP	4 : 103534584 - 103534584 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	378	55
CDK5R1	8851	broad.mit.edu	37	17	30815096	30815096	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30815096G>A	ENST00000313401.3	+	2	1147	c.458G>A	c.(457-459)cGc>cAc	p.R153H		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	153					axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			GAGCTGCTTCGCTGCCTGGGT	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	45	45			NA	NA	17		NA											NA				30815096		2203	4300	6503	SO:0001583	missense			X80343	CCDS11273.1	17q12	2006-03-28			ENSG00000176749	ENSG00000176749	8851	8851			1775	protein-coding gene	gene with protein product		603460			NA	8090221	Standard	NM_003885	NM_003885	NA	Approved	p35nck5a, Nck5a	uc002hhn.3	Q15078	OTTHUMG00000132814	ENST00000313401.3:c.458G>A	17.37:g.30815096G>A	ENSP00000318486:p.Arg153His	NA	E1P664|Q5U0G3	37	CCDS11273.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.817185	0.90790	.	.	ENSG00000176749	ENST00000313401	T	0.80738	-1.41	5.55	5.55	0.83447	Cyclin-like (2);	0.000000	0.85682	D	0.000000	D	0.87916	0.6298	M	0.76574	2.34	0.80722	D	1	D	0.69078	0.997	P	0.58970	0.849	D	0.89174	0.3539	10	0.87932	D	0	-21.4374	16.9953	0.86366	0.0:0.0:1.0:0.0	.	153	Q15078	CD5R1_HUMAN	H	153	ENSP00000318486:R153H	ENSP00000318486:R153H	R	+	2	0	CDK5R1	27839209	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.556000	0.73932	2.609000	0.88269	0.557000	0.71058	CGC	CDK5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256264.1		+	ENST00000313401.3	Missense_Mutation	SNP	17 : 30815096 - 30815096 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	88
SEC23IP	11196	broad.mit.edu	37	10	121663749	121663749	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121663749G>A	ENST00000369075.3	+	4	1133	c.1061G>A	c.(1060-1062)cGa>cAa	p.R354Q	SEC23IP_ENST00000543134.1_Missense_Mutation_p.R143Q	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	354	Interaction with SEC23A.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		ACAGATAGTCGATTTATTCCC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	85	82			NA	NA	10		NA											NA				121663749		2203	4300	6503	SO:0001583	missense			AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651	11196	11196		Sterile alpha motif (SAM) domain containing	17018	protein-coding gene	gene with protein product					NA	10400679	Standard		NM_007190	NA	Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.1061G>A	10.37:g.121663749G>A	ENSP00000358071:p.Arg354Gln	NA	D3DRD2|Q8IXH5|Q9BUK5	37	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297463	0.81025	.	.	ENSG00000107651	ENST00000369075;ENST00000543134;ENST00000446561	T;T;T	0.32023	1.47;1.47;1.47	5.46	5.46	0.80206	.	0.046877	0.85682	D	0.000000	T	0.48077	0.1480	M	0.79258	2.445	0.48901	D	0.999727	D;P	0.64830	0.994;0.908	P;B	0.54238	0.746;0.327	T	0.48352	-0.9043	10	0.51188	T	0.08	-23.302	12.9576	0.58438	0.074:0.0:0.926:0.0	.	143;354	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	Q	354;143;88	ENSP00000358071:R354Q;ENSP00000438773:R143Q;ENSP00000396906:R88Q	ENSP00000358071:R354Q	R	+	2	0	SEC23IP	121653739	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.291000	0.72719	2.713000	0.92767	0.655000	0.94253	CGA	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050688.1		+	ENST00000369075.3	Missense_Mutation	SNP	10 : 121663749 - 121663749 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	362	74
CC2D2B	387707	broad.mit.edu	37	10	97773576	97773576	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97773576C>A	ENST00000344386.3	+	5	514	c.350C>A	c.(349-351)cCt>cAt	p.P117H	ENTPD1-AS1_ENST00000416301.1_RNA|CC2D2B_ENST00000410012.2_Missense_Mutation_p.P117H|ENTPD1-AS1_ENST00000451364.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron|ENTPD1-AS1_ENST00000454638.1_RNA|CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000452728.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	117										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		TCTTTGATTCCTTTTGTGCCT	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	122	123			NA	NA	10		NA											NA				97773576		1869	4106	5975	SO:0001583	missense			BC075861	CCDS41555.1, CCDS53560.1	10q23.33	2008-11-06	2007-10-19	2007-10-19	ENSG00000188649	ENSG00000188649	387707	387707			31666	protein-coding gene	gene with protein product			chromosome 10 open reading frame 130	C10orf130	NA		Standard	NM_001001732	NM_001001732	NA	Approved	bA248J23.4	uc010qop.2	Q6DHV5	OTTHUMG00000018820	ENST00000344386.3:c.350C>A	10.37:g.97773576C>A	ENSP00000343747:p.Pro117His	NA	A2A3E9|Q5VUS0	37	CCDS41555.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.160470	0.78226	.	.	ENSG00000188649	ENST00000424464;ENST00000451649;ENST00000410012;ENST00000344386	D;T;T	0.96334	-3.98;-0.56;-0.56	5.89	5.89	0.94794	.	.	.	.	.	D	0.98388	0.9464	M	0.88450	2.955	0.38858	D	0.956423	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.99912	1.1207	9	0.87932	D	0	.	17.2314	0.86985	0.0:1.0:0.0:0.0	.	117;117	E9PCC3;Q6DHV5	.;C2D2B_HUMAN	H	178;117;117;117	ENSP00000391834:P178H;ENSP00000386988:P117H;ENSP00000343747:P117H	ENSP00000343747:P117H	P	+	2	0	CC2D2B	97763566	1.000000	0.71417	0.998000	0.56505	0.907000	0.53573	5.038000	0.64177	2.817000	0.96982	0.644000	0.83932	CCT	CC2D2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049573.3		+	ENST00000344386.3	Missense_Mutation	SNP	10 : 97773576 - 97773576 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	254	41
GUCY1B3	2983	broad.mit.edu	37	4	156717528	156717528	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156717528G>T	ENST00000507146.1	+	9	1139		c.e9-1		GUCY1B3_ENST00000264424.8_Splice_Site|GUCY1B3_ENST00000503520.1_Splice_Site|GUCY1B3_ENST00000513437.1_Splice_Site|GUCY1B3_ENST00000502959.1_Splice_Site|GUCY1B3_ENST00000505764.1_Splice_Site|GUCY1B3_ENST00000505154.1_Splice_Site			Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	NA					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		GCCTTTTCAAGGAAGGATTGT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													187	180	182			NA	NA	4		NA											NA				156717528		1980	4152	6132	SO:0001630	splice_region_variant			AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	2983	2983	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3	NA	1352257	Standard		XM_005262959	NA	Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000507146.1:c.640-1G>T	4.37:g.156717528G>T		NA	Q86WY5	37		.	.	.	.	.	.	.	.	.	.	G	16.37	3.105229	0.56291	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2459	0.93902	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GUCY1B3	156936978	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	9.308000	0.96247	2.551000	0.86045	0.655000	0.94253	.	GUCY1B3-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000365768.2	Intron	+	ENST00000507146.1	Splice_Site	SNP	4 : 156717528 - 156717528 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	380	56
RGS17	26575	broad.mit.edu	37	6	153365061	153365061	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:153365061A>C	ENST00000367225.2	-	1	117	c.93T>G	c.(91-93)tgT>tgG	p.C31W	RGS17_ENST00000206262.1_Missense_Mutation_p.C31W			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	31	Poly-Cys.				negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		AACAGCACCAACAAAAGCAAC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(78;500 1236 6775 24364 49058)							NA				0													167	159	162			NA	NA	6		NA											NA				153365061		2203	4300	6503	SO:0001583	missense			AF202257	CCDS5244.1	6q25-q26	2009-05-29	2007-08-14		ENSG00000091844	ENSG00000091844	26575	26575		Regulators of G-protein signaling	14088	protein-coding gene	gene with protein product		607191	regulator of G-protein signalling 17		NA	10419452	Standard		NM_012419	NA	Approved	RGSZ2, RGS-17	uc003qpm.3	Q9UGC6	OTTHUMG00000015858	ENST00000367225.2:c.93T>G	6.37:g.153365061A>C	ENSP00000356194:p.Cys31Trp	NA	Q5TF49|Q8TD61|Q9UJS8	37	CCDS5244.1	.	.	.	.	.	.	.	.	.	.	A	11.80	1.747915	0.30955	.	.	ENSG00000091844	ENST00000367225;ENST00000206262	T;T	0.55052	0.54;0.54	5.29	0.471	0.16752	.	0.451574	0.30510	N	0.009476	T	0.59348	0.2187	M	0.83223	2.63	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.61603	-0.7029	10	0.45353	T	0.12	-13.2255	9.7424	0.40427	0.5062:0.0:0.4938:0.0	.	31	Q9UGC6	RGS17_HUMAN	W	31	ENSP00000356194:C31W;ENSP00000206262:C31W	ENSP00000206262:C31W	C	-	3	2	RGS17	153406754	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	1.100000	0.31025	-0.022000	0.13986	0.377000	0.23210	TGT	RGS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042773.2		-	ENST00000367225.2	Missense_Mutation	SNP	6 : 153365061 - 153365061 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	791	136
PLEKHG4B	153478	broad.mit.edu	37	5	182382	182382	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:182382G>A	ENST00000283426.6	+	18	3810	c.3760G>A	c.(3760-3762)Gct>Act	p.A1254T		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1254					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GGGCACCCAGGCTGCAGTGTG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	22	22			NA	NA	5		NA											NA				182382		2203	4299	6502	SO:0001583	missense			BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404	153478	153478		Pleckstrin homology (PH) domain containing	29399	protein-coding gene	gene with protein product					NA	11572484	Standard	NM_052909	NM_052909	NA	Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.3760G>A	5.37:g.182382G>A	ENSP00000283426:p.Ala1254Thr	NA		37	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997387	0.35226	.	.	ENSG00000153404	ENST00000283426	T	0.30448	1.53	3.55	1.64	0.23874	.	.	.	.	.	T	0.14485	0.0350	N	0.14661	0.345	0.26396	N	0.976497	P	0.43477	0.808	B	0.30179	0.112	T	0.06625	-1.0816	9	0.72032	D	0.01	.	9.5746	0.39450	0.0:0.6027:0.3972:0.0	.	1254	Q96PX9	PKH4B_HUMAN	T	1254	ENSP00000283426:A1254T	ENSP00000283426:A1254T	A	+	1	0	PLEKHG4B	235382	1.000000	0.71417	0.112000	0.21494	0.010000	0.07245	2.491000	0.45303	0.020000	0.15106	-0.499000	0.04595	GCT	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365359.1		+	ENST00000283426.6	Missense_Mutation	SNP	5 : 182382 - 182382 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	180	35
SLC27A4	10999	broad.mit.edu	37	9	131107479	131107479	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131107479C>T	ENST00000300456.4	+	3	324	c.207C>T	c.(205-207)tgC>tgT	p.C69C	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	NA					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						TGCGACAGTGCCTGCAGGAGC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(107;1554 2241 10946 12953)							NA				0													76	49	58			NA	NA	9		NA											NA				131107479		2203	4300	6503	SO:0001819	synonymous_variant			AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114	10999	10999		Acyl-CoA synthetase family, Solute carriers	10998	protein-coding gene	gene with protein product		604194			NA	9878842	Standard		NM_005094	NA	Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.207C>T	9.37:g.131107479C>T		NA	A8K2F7|O95186	37	CCDS6899.1																																																																																			SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054432.2		+	ENST00000300456.4	Silent	SNP	9 : 131107479 - 131107479 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	273	37
MRPL28	10573	broad.mit.edu	37	16	419132	419132	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:419132G>A	ENST00000199706.8	-	3	412	c.377C>T	c.(376-378)aCt>aTt	p.T126I	MRPL28_ENST00000429738.1_Intron|MRPL28_ENST00000389675.2_Missense_Mutation_p.T126I	NM_006428.4	NP_006419.2	Q13084	RM28_HUMAN	mitochondrial ribosomal protein L28	126					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)	5		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)				CATGGTCACAGTCACTGTGAA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													203	152	170			NA	NA	16		NA											NA				419132		2203	4300	6503	SO:0001583	missense			U19796	CCDS32349.1	16p13.12	2012-09-26	2002-11-13		ENSG00000086504	ENSG00000086504	10573	10573		Mitochondrial ribosomal proteins / large subunits	14484	protein-coding gene	gene with protein product		604853	melanoma-associated antigen recognised by cytotoxic T lymphocytes	MAAT1	NA	11551941, 19753307	Standard		NM_006428	NA	Approved	p15	uc002cgs.2	Q13084	OTTHUMG00000047994	ENST00000199706.8:c.377C>T	16.37:g.419132G>A	ENSP00000199706:p.Thr126Ile	NA	B2RCM4|D3DU46|Q4TT39|Q96S26|Q9BQD8|Q9BR04	37	CCDS32349.1	.	.	.	.	.	.	.	.	.	.	G	8.387	0.838861	0.16891	.	.	ENSG00000086504	ENST00000397735;ENST00000199706;ENST00000397734;ENST00000389675;ENST00000441883;ENST00000447696;ENST00000450882	T;T;T;T;T	0.33438	1.82;1.82;1.83;1.42;1.41	4.35	2.24	0.28232	.	0.156920	0.56097	D	0.000032	T	0.31575	0.0801	M	0.69823	2.125	0.49798	D	0.999828	P;P;P	0.36222	0.544;0.544;0.544	B;B;B	0.35510	0.204;0.204;0.204	T	0.31916	-0.9926	10	0.66056	D	0.02	-21.5801	10.7298	0.46089	0.1878:0.0:0.8122:0.0	.	126;126;126	A2IDC6;Q13084;Q4TT38	.;RM28_HUMAN;.	I	126	ENSP00000199706:T126I;ENSP00000374326:T126I;ENSP00000398684:T126I;ENSP00000390399:T126I;ENSP00000395305:T126I	ENSP00000199706:T126I	T	-	2	0	MRPL28	359133	1.000000	0.71417	0.068000	0.19968	0.002000	0.02628	4.373000	0.59537	1.061000	0.40601	-0.136000	0.14681	ACT	MRPL28-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000139285.2		-	ENST00000199706.8	Missense_Mutation	SNP	16 : 419132 - 419132 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	447	86
ZFYVE26	23503	broad.mit.edu	37	14	68229498	68229498	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68229498G>T	ENST00000347230.4	-	33	6188	c.6050C>A	c.(6049-6051)gCt>gAt	p.A2017D	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A2017D	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2017					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		ATAGGCAGCAGCAACTAAAAT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	74	78			NA	NA	14		NA											NA				68229498		2203	4300	6503	SO:0001583	missense			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121	23503	23503		Zinc fingers, FYVE domain containing	20761	protein-coding gene	gene with protein product	spastizin, FYVE-CENT	612012	spastic paraplegia 15 (complicated, autosomal recessive)	SPG15	NA	9205841, 18394578	Standard	NM_015346	NM_015346	NA	Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.6050C>A	14.37:g.68229498G>T	ENSP00000251119:p.Ala2017Asp	NA	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252266	0.80135	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.27890	1.78;1.64	5.62	2.78	0.32641	.	0.232813	0.43747	D	0.000530	T	0.41511	0.1162	L	0.46157	1.445	0.43426	D	0.995587	D;D	0.76494	0.999;0.997	D;P	0.71414	0.973;0.879	T	0.07809	-1.0753	10	0.31617	T	0.26	-0.1938	8.2721	0.31851	0.1347:0.0:0.7368:0.1285	.	2017;2017	G3V2D8;Q68DK2	.;ZFY26_HUMAN	D	2017;1996;2017	ENSP00000251119:A2017D;ENSP00000450603:A2017D	ENSP00000251119:A2017D	A	-	2	0	ZFYVE26	67299251	0.325000	0.24660	0.983000	0.44433	0.994000	0.84299	2.240000	0.43088	0.316000	0.23135	0.563000	0.77884	GCT	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412736.2		-	ENST00000347230.4	Missense_Mutation	SNP	14 : 68229498 - 68229498 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	159	25
COL5A1	1289	broad.mit.edu	37	9	137591908	137591908	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137591908C>T	ENST00000371817.3	+	3	845	c.431C>T	c.(430-432)aCg>aTg	p.T144M	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	144	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GAGGACCACACGGGGAAGCCT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	61	59			NA	NA	9		NA											NA				137591908		2203	4300	6503	SO:0001583	missense			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635	1289	1289		Collagens	2209	protein-coding gene	gene with protein product	alpha 1 type V collagen	120215			NA	1572660	Standard	NM_000093	NM_001278074	NA	Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.431C>T	9.37:g.137591908C>T	ENSP00000360882:p.Thr144Met	NA	Q15094|Q5SUX4	37	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608730	0.46527	.	.	ENSG00000130635	ENST00000371817	T	0.02472	4.28	4.57	2.26	0.28386	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.507528	0.17987	U	0.155333	T	0.04003	0.0112	M	0.68593	2.085	0.32628	N	0.522422	B	0.11235	0.004	B	0.10450	0.005	T	0.02751	-1.1115	10	0.49607	T	0.09	.	5.2768	0.15653	0.1567:0.6225:0.0:0.2207	.	144	P20908	CO5A1_HUMAN	M	144	ENSP00000360882:T144M	ENSP00000360882:T144M	T	+	2	0	COL5A1	136731729	0.445000	0.25657	0.954000	0.39281	0.986000	0.74619	1.052000	0.30429	1.047000	0.40274	0.655000	0.94253	ACG	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054954.2		+	ENST00000371817.3	Missense_Mutation	SNP	9 : 137591908 - 137591908 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	406	75
ADCY7	113	broad.mit.edu	37	16	50338418	50338418	+	Missense_Mutation	SNP	G	G	A	rs79253515		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50338418G>A	ENST00000394697.2	+	11	1856	c.1516G>A	c.(1516-1518)Gtg>Atg	p.V506M	ADCY7_ENST00000537579.1_Intron|ADCY7_ENST00000566433.2_Missense_Mutation_p.V506M|ADCY7_ENST00000254235.3_Missense_Mutation_p.V506M|ADCY7_ENST00000538642.1_Missense_Mutation_p.V506M			P51828	ADCY7_HUMAN	adenylate cyclase 7	506					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CCGTGAGAGCGTGAGCAGTGG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	60	59			NA	NA	16		NA											NA				50338418		2198	4300	6498	SO:0001583	missense			D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	113	113	4.6.1.1	Adenylate cyclases	238	protein-coding gene	gene with protein product		600385			NA	7860067	Standard		NM_001286057	NA	Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.1516G>A	16.37:g.50338418G>A	ENSP00000378187:p.Val506Met	NA	A0AVA6	37	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	G	1.705	-0.500671	0.04261	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000254235	T;T;T	0.78126	-1.15;-1.15;-1.15	4.84	3.85	0.44370	.	0.219761	0.21876	U	0.067804	T	0.67487	0.2898	L	0.36672	1.1	0.58432	D	0.999999	B;B	0.33299	0.231;0.407	B;B	0.29598	0.104;0.063	T	0.69884	-0.5024	10	0.44086	T	0.13	.	14.2036	0.65721	0.0:0.1916:0.8084:0.0	.	506;506	P51828;F5H4D1	ADCY7_HUMAN;.	M	506	ENSP00000445046:V506M;ENSP00000378187:V506M;ENSP00000254235:V506M	ENSP00000254235:V506M	V	+	1	0	ADCY7	48895919	0.938000	0.31826	0.732000	0.30844	0.037000	0.13140	1.432000	0.34936	2.215000	0.71742	0.491000	0.48974	GTG	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256877.3		+	ENST00000394697.2	Missense_Mutation	SNP	16 : 50338418 - 50338418 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	569	95
INTU	27152	broad.mit.edu	37	4	128632105	128632105	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128632105G>T	ENST00000335251.6	+	14	2510	c.2407G>T	c.(2407-2409)Gtt>Ttt	p.V803F		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	NA										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TTTCCACTACGTTGCCTTAGA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	103	106			NA	NA	4		NA											NA				128632105		2203	4300	6503	SO:0001583	missense			BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066	27152	27152			29239	protein-coding gene	gene with protein product		610621	PDZ domain containing 6, inturned planar cell polarity effector homolog (Drosophila)	PDZK6, PDZD6	NA	10574462, 21761479	Standard	XM_371707	NM_015693	NA	Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.2407G>T	4.37:g.128632105G>T	ENSP00000334003:p.Val803Phe	NA	A1L4N5|Q4W5I8|Q86V55	37	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338805	0.60963	.	.	ENSG00000164066	ENST00000335251	.	.	.	5.54	4.68	0.58851	.	0.147144	0.45606	D	0.000357	T	0.68805	0.3041	M	0.73962	2.25	0.80722	D	1	D	0.69078	0.997	D	0.64877	0.93	T	0.71388	-0.4608	9	0.72032	D	0.01	-11.6227	4.8369	0.13469	0.0767:0.3001:0.4844:0.1389	.	803	Q9ULD6	PDZD6_HUMAN	F	803	.	ENSP00000334003:V803F	V	+	1	0	INTU	128851555	1.000000	0.71417	0.997000	0.53966	0.714000	0.41099	2.508000	0.45450	1.534000	0.49203	0.650000	0.86243	GTT	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364147.2		+	ENST00000335251.6	Missense_Mutation	SNP	4 : 128632105 - 128632105 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	428	91
WNK1	65125	broad.mit.edu	37	12	987393	987393	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:987393C>T	ENST00000315939.6	+	10	2882	c.2239C>T	c.(2239-2241)Cag>Tag	p.Q747*	WNK1_ENST00000535572.1_Nonsense_Mutation_p.Q746*|WNK1_ENST00000340908.4_Nonsense_Mutation_p.Q340*|WNK1_ENST00000537687.1_Nonsense_Mutation_p.Q1160*|WNK1_ENST00000530271.2_Nonsense_Mutation_p.Q1245*	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	747					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GGGAATACAGCAGACAGCCCC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(19;451 567 6672 12618 28860)							NA				0													110	98	102			NA	NA	12		NA											NA				987393		2203	4300	6503	SO:0001587	stop_gained			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237	65125	65125			14540	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 167	605232	protein kinase, lysine deficient 1, hereditary sensory neuropathy, type II	PRKWNK1, HSN2	NA		Standard	NM_018979	NM_001184985	NA	Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2239C>T	12.37:g.987393C>T	ENSP00000313059:p.Gln747*	NA	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q9P1S9	37	CCDS8506.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	46|46	12.339887|12.339887	0.99658|0.99658	.|.	.|.	ENSG00000060237|ENSG00000060237	ENST00000544965;ENST00000545285|ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908;ENST00000535698	.|.	.|.	.|.	5.99|5.99	5.99|5.99	0.97316|0.97316	.|.	.|0.191642	.|0.37095	.|N	.|0.002245	T|.	0.66713|.	0.2817|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.57353|.	-0.7826|.	3|.	.|0.16896	.|T	.|0.51	-1.1582|-1.1582	18.6582|18.6582	0.91462|0.91462	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	69;66|746;747;1160;166;1245;340;17	.|.	.|ENSP00000252477:Q166X	A|Q	+|+	2|1	0|0	WNK1|WNK1	857654|857654	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.996000|0.996000	0.88848|0.88848	4.571000|4.571000	0.60879|0.60879	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GCA|CAG	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206683.1		+	ENST00000315939.6	Nonsense_Mutation	SNP	12 : 987393 - 987393 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	514	68
APLP2	334	broad.mit.edu	37	11	130011402	130011402	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130011402G>A	ENST00000263574.5	+	16	2041	c.1969G>A	c.(1969-1971)Gag>Aag	p.E657K	APLP2_ENST00000278756.7_Missense_Mutation_p.E655K|APLP2_ENST00000539648.1_Missense_Mutation_p.E445K|APLP2_ENST00000345598.5_Missense_Mutation_p.E416K|APLP2_ENST00000338167.5_Missense_Mutation_p.E645K|APLP2_ENST00000543137.1_Missense_Mutation_p.E552K|APLP2_ENST00000528499.1_Missense_Mutation_p.E589K	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	657					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GGTCATTGACGAGACTCTGGA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	109	111			NA	NA	11		NA											NA				130011402		2201	4297	6498	SO:0001583	missense			L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234	334	334			598	protein-coding gene	gene with protein product		104776		APPL2	NA	10702673	Standard	NM_001642	NM_001642	NA	Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1969G>A	11.37:g.130011402G>A	ENSP00000263574:p.Glu657Lys	NA	Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	37	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205480	0.79127	.	.	ENSG00000084234	ENST00000528499;ENST00000539648;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756;ENST00000543137	D;D;D;D;D;D;D	0.94376	-3.37;-3.22;-1.68;-3.41;-1.89;-1.9;-1.88	6.17	6.17	0.99709	.	0.099482	0.64402	D	0.000003	D	0.94571	0.8251	L	0.29908	0.895	0.80722	D	1	D;D;P;P;D;D;P	0.89917	0.998;0.969;0.932;0.803;0.972;1.0;0.789	P;B;B;B;B;D;B	0.79108	0.805;0.225;0.263;0.268;0.31;0.992;0.128	D	0.93070	0.6482	9	.	.	.	-36.2148	19.8676	0.96824	0.0:0.0:1.0:0.0	.	445;657;601;416;583;589;645	F5H845;Q06481;Q06481-2;Q06481-5;B4E3I5;Q06481-4;Q06481-3	.;APLP2_HUMAN;.;.;.;.;.	K	589;445;657;416;645;655;552	ENSP00000435914:E589K;ENSP00000443728:E445K;ENSP00000263574:E657K;ENSP00000263575:E416K;ENSP00000345444:E645K;ENSP00000278756:E655K;ENSP00000444122:E552K	.	E	+	1	0	APLP2	129516612	1.000000	0.71417	0.980000	0.43619	0.833000	0.47200	9.230000	0.95299	2.941000	0.99782	0.655000	0.94253	GAG	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386109.1		+	ENST00000263574.5	Missense_Mutation	SNP	11 : 130011402 - 130011402 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	43
GAK	2580	broad.mit.edu	37	4	871406	871406	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:871406A>G	ENST00000314167.4	-	16	1963	c.1853T>C	c.(1852-1854)aTg>aCg	p.M618T	GAK_ENST00000511163.1_Missense_Mutation_p.M539T	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	618	C2 tensin-type.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CACTCACCGCATCTTGTCGTA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	43	45			NA	NA	4		NA											NA				871406		2202	4299	6501	SO:0001583	missense			D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950	2580	2580		Heat shock proteins / DNAJ (HSP40)	4113	protein-coding gene	gene with protein product	auxilin-2	602052			NA	9299234	Standard	NM_005255	NM_005255	NA	Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.1853T>C	4.37:g.871406A>G	ENSP00000314499:p.Met618Thr	NA	Q9BVY6	37	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.192949	0.78902	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	D;D	0.84800	-1.9;-1.9	5.71	5.71	0.89125	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.91965	0.7455	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.67145	0.996;0.996;0.996;0.996	D;D;D;D	0.70487	0.938;0.92;0.969;0.969	D	0.92856	0.6301	10	0.72032	D	0.01	.	13.9333	0.64010	1.0:0.0:0.0:0.0	.	539;539;618;514	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	T	618;539	ENSP00000314499:M618T;ENSP00000421361:M539T	ENSP00000314499:M618T	M	-	2	0	GAK	861406	1.000000	0.71417	0.996000	0.52242	0.834000	0.47266	8.619000	0.90938	2.178000	0.69098	0.533000	0.62120	ATG	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239188.1		-	ENST00000314167.4	Missense_Mutation	SNP	4 : 871406 - 871406 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	334	53
SIRPG	55423	broad.mit.edu	37	20	1629742	1629742	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1629742T>C	ENST00000381580.1	-	2	466	c.287A>G	c.(286-288)aAc>aGc	p.N96S	SIRPG_ENST00000216927.4_Missense_Mutation_p.N129S|SIRPG_ENST00000303415.3_Missense_Mutation_p.N129S|SIRPG_ENST00000381583.2_Missense_Mutation_p.N129S|SIRPG_ENST00000344103.4_Missense_Mutation_p.N129S			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	129	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						AAACTCCACGTTCTCAGGGCT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													223	195	204			NA	NA	20		NA											NA				1629742		2203	4300	6503	SO:0001583	missense			AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012	55423	55423		Signal-regulatory proteins, CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C1-set domain containing	15757	protein-coding gene	gene with protein product		605466	signal-regulatory protein beta 2	SIRPB2	NA	11185750, 16339511	Standard	NM_018556	XM_005260749	NA	Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000381580.1:c.287A>G	20.37:g.1629742T>C	ENSP00000370992:p.Asn96Ser	NA	B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	37		.	.	.	.	.	.	.	.	.	.	.	12.39	1.924031	0.34002	.	.	ENSG00000089012	ENST00000381580;ENST00000344103;ENST00000303415;ENST00000381583;ENST00000216927	T;T;T;T;T	0.02916	4.11;4.11;4.11;4.11;4.11	1.93	1.93	0.25924	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.187422	0.37437	N	0.002092	T	0.01558	0.0050	N	0.14661	0.345	0.09310	N	1	B;B;B	0.19583	0.03;0.032;0.037	B;B;B	0.16722	0.009;0.006;0.016	T	0.49360	-0.8948	10	0.09843	T	0.71	.	5.8652	0.18771	0.0:0.0:0.0:1.0	.	129;129;129	Q9P1W8-3;Q9P1W8-4;Q9P1W8	.;.;SIRPG_HUMAN	S	96;129;129;129;129	ENSP00000370992:N96S;ENSP00000342759:N129S;ENSP00000305529:N129S;ENSP00000370995:N129S;ENSP00000216927:N129S	ENSP00000216927:N129S	N	-	2	0	SIRPG	1577742	0.005000	0.15991	0.009000	0.14445	0.664000	0.39144	1.424000	0.34848	1.143000	0.42306	0.164000	0.16699	AAC	SIRPG-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000077562.1		-	ENST00000381580.1	Missense_Mutation	SNP	20 : 1629742 - 1629742 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	549	22
CDH4	1002	broad.mit.edu	37	20	60504709	60504709	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60504709C>T	ENST00000360469.5	+	13	2136	c.2048C>T	c.(2047-2049)gCc>gTc	p.A683V	CDH4_ENST00000543233.1_Missense_Mutation_p.A609V	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	683	Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TACCTGGAGGCCGGGATGTAT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	104	116			NA	NA	20		NA											NA				60504709		2203	4300	6503	SO:0001583	missense			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242	1002	1002		Cadherins / Major cadherins	1763	protein-coding gene	gene with protein product	R-Cadherin	603006			NA	10191097, 10516427	Standard	NM_001794	NM_001794	NA	Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2048C>T	20.37:g.60504709C>T	ENSP00000353656:p.Ala683Val	NA	Q2M208|Q5VZ44|Q9BZ05	37	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.511956	0.27036	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.60299	0.2;0.2	4.14	4.14	0.48551	Cadherin (3);Cadherin-like (1);	0.060746	0.64402	D	0.000004	T	0.42810	0.1219	L	0.45051	1.395	0.41343	D	0.987315	P	0.38582	0.638	B	0.28385	0.089	T	0.42050	-0.9474	9	.	.	.	.	11.6549	0.51313	0.1776:0.8224:0.0:0.0	.	683	P55283	CADH4_HUMAN	V	683;591;609	ENSP00000353656:A683V;ENSP00000443301:A609V	.	A	+	2	0	CDH4	59938104	0.197000	0.23362	0.863000	0.33907	0.943000	0.58893	2.334000	0.43920	1.855000	0.53841	0.561000	0.74099	GCC	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079965.2		+	ENST00000360469.5	Missense_Mutation	SNP	20 : 60504709 - 60504709 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	482	31
C1QTNF4	114900	broad.mit.edu	37	11	47611561	47611561	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47611561C>T	ENST00000302514.3	-	2	1318	c.802G>A	c.(802-804)Gag>Aag	p.E268K		NM_031909.2	NP_114115.2	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	268	C1q 2.					extracellular region				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						CTCTGCATCTCGCGGCGCCGC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	62	59			NA	NA	11		NA											NA				47611561		2200	4296	6496	SO:0001583	missense			AF329838	CCDS7942.1	11q11	2008-07-18				ENSG00000172247	114900	114900			14346	protein-coding gene	gene with protein product	complement-c1q tumor necrosis factor-related protein 4	614911			NA	16094384	Standard	NM_031909	NM_031909	NA	Approved	CTRP4, ZACRP4	uc001ngc.2	Q9BXJ3		ENST00000302514.3:c.802G>A	11.37:g.47611561C>T	ENSP00000302274:p.Glu268Lys	NA	Q8IV25	37	CCDS7942.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966121	0.92855	.	.	ENSG00000172247	ENST00000302514	D	0.85955	-2.05	4.27	3.34	0.38264	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.069186	0.56097	U	0.000022	T	0.78805	0.4341	L	0.43598	1.365	0.49213	D	0.999766	P	0.47034	0.889	B	0.38712	0.28	T	0.77308	-0.2636	10	0.38643	T	0.18	.	14.2981	0.66329	0.0:0.85:0.15:0.0	.	268	Q9BXJ3	C1QT4_HUMAN	K	268	ENSP00000302274:E268K	ENSP00000302274:E268K	E	-	1	0	C1QTNF4	47568137	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.836000	0.69375	0.878000	0.35920	0.462000	0.41574	GAG	C1QTNF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391772.1		-	ENST00000302514.3	Missense_Mutation	SNP	11 : 47611561 - 47611561 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	20
TCF7L1	83439	broad.mit.edu	37	2	85536398	85536398	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85536398C>T	ENST00000282111.3	+	12	1855	c.1580C>T	c.(1579-1581)gCt>gTt	p.A527V		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	527					chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						TCGGCTAAGGCTGCAGCCTCC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	30	30			NA	NA	2		NA											NA				85536398		2203	4300	6503	SO:0001583	missense			X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284	83439	83439			11640	protein-coding gene	gene with protein product		604652		TCF3	NA	1741298, 11085512	Standard	NM_031283	NM_031283	NA	Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.1580C>T	2.37:g.85536398C>T	ENSP00000282111:p.Ala527Val	NA	Q53R97|Q6PD70|Q9NP00	37	CCDS1971.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688751	0.48097	.	.	ENSG00000152284	ENST00000282111	D	0.98567	-5.0	5.36	3.56	0.40772	.	0.976044	0.08419	N	0.948663	D	0.95762	0.8621	L	0.40543	1.245	0.37249	D	0.906489	B	0.18310	0.027	B	0.08055	0.003	D	0.91369	0.5118	10	0.33141	T	0.24	.	9.1199	0.36780	0.0:0.7715:0.1479:0.0806	.	527	Q9HCS4	TF7L1_HUMAN	V	527	ENSP00000282111:A527V	ENSP00000282111:A527V	A	+	2	0	TCF7L1	85389909	1.000000	0.71417	0.777000	0.31699	0.606000	0.37113	6.588000	0.74076	0.829000	0.34733	-0.136000	0.14681	GCT	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252301.2		+	ENST00000282111.3	Missense_Mutation	SNP	2 : 85536398 - 85536398 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	93
AASDH	132949	broad.mit.edu	37	4	57215710	57215710	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57215710C>G	ENST00000205214.6	-	11	2387	c.2207G>C	c.(2206-2208)tGt>tCt	p.C736S	AASDH_ENST00000513376.1_Missense_Mutation_p.C636S|AASDH_ENST00000502617.1_Missense_Mutation_p.C736S|AASDH_ENST00000451613.1_Missense_Mutation_p.C736S|AASDH_ENST00000434343.2_Missense_Mutation_p.C251S|AASDH_ENST00000602986.1_Missense_Mutation_p.C583S	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	736					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TTTTGCAACACAGGATGGATC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	107	107			NA	NA	4		NA											NA				57215710		2203	4300	6503	SO:0001583	missense			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	132949	132949	1.2.1.31	Acyl-CoA synthetase family	23993	protein-coding gene	gene with protein product	acyl-CoA synthetase family member 4	614365			NA	15865210, 12712191, 17762044	Standard	NM_181806	XM_005265721	NA	Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.2207G>C	4.37:g.57215710C>G	ENSP00000205214:p.Cys736Ser	NA	A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	37	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	C	0.620	-0.821413	0.02755	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000434343;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T;T	0.61742	0.08;0.22;2.4;0.66;0.67	4.91	2.05	0.26809	.	0.754197	0.12944	N	0.426341	T	0.44201	0.1282	L	0.46157	1.445	0.20196	N	0.999926	B;B;B;B	0.20261	0.043;0.003;0.006;0.001	B;B;B;B	0.17722	0.019;0.004;0.009;0.001	T	0.26849	-1.0091	10	0.18276	T	0.48	-3.9224	5.9473	0.19225	0.116:0.5845:0.2189:0.0806	.	583;736;736;736	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	S	736;636;251;736;583;736	ENSP00000205214:C736S;ENSP00000423760:C636S;ENSP00000392158:C251S;ENSP00000409656:C736S;ENSP00000421171:C736S	ENSP00000205214:C736S	C	-	2	0	AASDH	56910467	0.000000	0.05858	0.068000	0.19968	0.035000	0.12851	-0.454000	0.06770	0.637000	0.30526	-0.284000	0.09977	TGT	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250780.1		-	ENST00000205214.6	Missense_Mutation	SNP	4 : 57215710 - 57215710 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	691	49
SVIL	6840	broad.mit.edu	37	10	29762878	29762878	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:29762878G>A	ENST00000355867.4	-	30	6170	c.5418C>T	c.(5416-5418)gcC>gcT	p.A1806A	PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000535393.1_Silent_p.A720A|SVIL_ENST00000460007.1_5'UTR|SVIL_ENST00000375398.2_Silent_p.A1806A|SVIL_ENST00000375400.3_Silent_p.A1380A|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000423223.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1806					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TCTCTTTGCCGGCTGCCCTCA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	49	55			NA	NA	10		NA											NA				29762878		2203	4300	6503	SO:0001819	synonymous_variant			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321	6840	6840			11480	protein-coding gene	gene with protein product	archvillin	604126			NA	9382871	Standard		NM_003174	NA	Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.5418C>T	10.37:g.29762878G>A		NA	D3DRW9|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	37	CCDS7164.1																																																																																			SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047395.1		-	ENST00000355867.4	Silent	SNP	10 : 29762878 - 29762878 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	177	27
PABPC3	5042	broad.mit.edu	37	13	25671992	25671992	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25671992G>T	ENST00000281589.3	+	1	1693	c.1656G>T	c.(1654-1656)aaG>aaT	p.K552N		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	552	PABC.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CTCCTCAAAAGCAAAAGCAAA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	101	104			NA	NA	13		NA											NA				25671992		2203	4300	6503	SO:0001583	missense			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846	5042	5042		RNA binding motif (RRM) containing	8556	protein-coding gene	gene with protein product	testis PABP	604680	poly(A)-binding protein, cytoplasmic 3	PABPL3	NA	8432538, 10543404	Standard	NM_030979	NM_030979	NA	Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1656G>T	13.37:g.25671992G>T	ENSP00000281589:p.Lys552Asn	NA	Q8NHV0|Q9H086	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	2.798	-0.249807	0.05867	.	.	ENSG00000151846	ENST00000281589	T	0.46819	0.86	0.875	0.875	0.19130	Polyadenylate-binding protein/Hyperplastic disc protein (5);	0.134314	0.30959	U	0.008532	T	0.24812	0.0602	N	0.11341	0.13	0.23831	N	0.996722	B	0.06786	0.001	B	0.14023	0.01	T	0.22871	-1.0204	10	0.59425	D	0.04	.	7.5489	0.27783	0.0:0.0:1.0:0.0	.	552	Q9H361	PABP3_HUMAN	N	552	ENSP00000281589:K552N	ENSP00000281589:K552N	K	+	3	2	PABPC3	24569992	1.000000	0.71417	0.986000	0.45419	0.024000	0.10985	1.190000	0.32126	0.759000	0.33084	0.313000	0.20887	AAG	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044220.2		+	ENST00000281589.3	Missense_Mutation	SNP	13 : 25671992 - 25671992 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	546	90
SLCO3A1	28232	broad.mit.edu	37	15	92459678	92459678	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:92459678G>A	ENST00000424469.2	+	2	689	c.636G>A	c.(634-636)tcG>tcA	p.S212S	SLCO3A1_ENST00000318445.6_Silent_p.S212S	NM_001145044.1	NP_001138516.1	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	212					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			AGGACTCCTCGCTCTATATAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	16	15			NA	NA	15		NA											NA				92459678		2197	4297	6494	SO:0001819	synonymous_variant			AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463	28232	28232		Solute carriers	10952	protein-coding gene	gene with protein product		612435	solute carrier family 21 (organic anion transporter), member 11	SLC21A11	NA		Standard	NM_013272	NM_001145044	NA	Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000424469.2:c.636G>A	15.37:g.92459678G>A		NA	A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	37	CCDS45354.1																																																																																			SLCO3A1-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414816.1		+	ENST00000424469.2	Silent	SNP	15 : 92459678 - 92459678 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	94	22
PTPN7	5778	broad.mit.edu	37	1	202128652	202128652	+	Translation_Start_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202128652G>T	ENST00000367279.4	-	0	467				PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000308986.5_Intron|PTPN7_ENST00000543735.1_Intron|PTPN7_ENST00000309017.3_Intron	NM_080588.2	NP_542155.1	P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	NA						cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						TCCCATGCCAGGCCAGGTTTG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	38	37			NA	NA	1		NA											NA				202128652		2203	4300	6503					BC001746	CCDS1422.1, CCDS1423.1, CCDS1423.2	1q32.1	2011-06-09			ENSG00000143851	ENSG00000143851	5778	5778		Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor	9659	protein-coding gene	gene with protein product		176889			NA	1510684	Standard	NM_002832	NM_002832	NA	Approved	HEPTP, LC-PTP	uc010ppx.2	P35236	OTTHUMG00000035931	ENST00000367279.4:c.-5C>A	1.37:g.202128652G>T		NA	Q53XK4|Q5SXQ1|Q9BV05	37	CCDS1422.1																																																																																			PTPN7-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087514.1		-	ENST00000367279.4	De_novo_Start_OutOfFrame	SNP	1 : 202128652 - 202128652 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	357	99
TUBA8	51807	broad.mit.edu	37	22	18609176	18609176	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18609176G>A	ENST00000316027.6	+	4	581	c.233G>A	c.(232-234)gGc>gAc	p.G78D	TUBA8_ENST00000330423.3_Missense_Mutation_p.G144D	NM_001193414.1	NP_001180343.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	144					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						TTTGGTGGGGGCACTGGCTCC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	99	97			NA	NA	22		NA											NA				18609176		2203	4300	6503	SO:0001583	missense			AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785	51807	51807		Tubulins	12410	protein-coding gene	gene with protein product		605742		TUBAL2	NA	10772959, 10591208	Standard	NM_018943	NM_001193414	NA	Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000316027.6:c.233G>A	22.37:g.18609176G>A	ENSP00000318575:p.Gly78Asp	NA	B2RCX2|Q2M3N4	37	CCDS54495.1	.	.	.	.	.	.	.	.	.	.	.	17.98	3.520016	0.64634	.	.	ENSG00000183785	ENST00000316027;ENST00000330423;ENST00000416740	D;D;D	0.89485	-2.52;-2.52;-2.52	5.49	5.49	0.81192	Tubulin, conserved site (1);Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.97838	0.9290	H	0.99983	5.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99466	1.0944	10	0.87932	D	0	.	18.7174	0.91680	0.0:0.0:1.0:0.0	.	168;144	C9J2C0;Q9NY65	.;TBA8_HUMAN	D	78;144;168	ENSP00000318575:G78D;ENSP00000333326:G144D;ENSP00000412646:G168D	ENSP00000318575:G78D	G	+	2	0	TUBA8	16989176	1.000000	0.71417	0.999000	0.59377	0.887000	0.51463	9.869000	0.99810	2.735000	0.93741	0.655000	0.94253	GGC	TUBA8-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316233.2		+	ENST00000316027.6	Missense_Mutation	SNP	22 : 18609176 - 18609176 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	695	25
GSG2	83903	broad.mit.edu	37	17	3628844	3628844	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3628844T>C	ENST00000325418.4	+	1	1634	c.1615T>C	c.(1615-1617)Tcc>Ccc	p.S539P	ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	539	Protein kinase.				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity				NA						GATCATCATCTCCAAAGAGTT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	69	71			NA	NA	17		NA											NA				3628844		2203	4300	6503	SO:0001583	missense			AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602	83903	83903			19682	protein-coding gene	gene with protein product		609240			NA		Standard	NM_031965	NM_031965	NA	Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.1615T>C	17.37:g.3628844T>C	ENSP00000325290:p.Ser539Pro	NA	Q5U5K3|Q96MN1|Q9BXS7	37	CCDS11036.1	.	.	.	.	.	.	.	.	.	.	T	18.96	3.734608	0.69189	.	.	ENSG00000177602	ENST00000325418	T	0.66099	-0.19	4.87	4.87	0.63330	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.218716	0.30356	N	0.009804	T	0.74275	0.3695	L	0.58428	1.81	0.51482	D	0.999925	D	0.89917	1.0	D	0.74023	0.982	T	0.77112	-0.2708	10	0.87932	D	0	-29.5602	12.8971	0.58106	0.0:0.0:0.0:1.0	.	539	Q8TF76	HASP_HUMAN	P	539	ENSP00000325290:S539P	ENSP00000325290:S539P	S	+	1	0	GSG2	3575593	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.871000	0.69628	2.139000	0.66308	0.533000	0.62120	TCC	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207391.1		+	ENST00000325418.4	Missense_Mutation	SNP	17 : 3628844 - 3628844 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	374	75
PKD1	5310	broad.mit.edu	37	16	2160529	2160529	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2160529G>A	ENST00000262304.4	-	15	4847	c.4639C>T	c.(4639-4641)Cgc>Tgc	p.R1547C	PKD1_ENST00000423118.1_Missense_Mutation_p.R1547C	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1547	PKD 10.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCCCGCACGCGCCGCTTCACC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	48	46			NA	NA	16		NA											NA				2160529		2195	4289	6484	SO:0001583	missense			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710	5310	5310		Voltage-gated ion channels / Transient receptor potential cation channels	9008	protein-coding gene	gene with protein product	polycystin 1, transient receptor potential cation channel, subfamily P, member 1	601313			NA		Standard		NM_001009944	NA	Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.4639C>T	16.37:g.2160529G>A	ENSP00000262304:p.Arg1547Cys	NA	Q15140|Q15141	37	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	g	13.21	2.168603	0.38315	.	.	ENSG00000008710	ENST00000262304;ENST00000423118	T;T	0.67698	-0.28;-0.28	5.36	3.38	0.38709	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (2);	0.126247	0.53938	D	0.000057	T	0.78162	0.4240	M	0.69823	2.125	0.35442	D	0.794935	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.943	T	0.82657	-0.0349	10	0.62326	D	0.03	.	10.3323	0.43829	0.0706:0.0:0.794:0.1353	.	1547;1547	P98161-3;P98161	.;PKD1_HUMAN	C	1547	ENSP00000262304:R1547C;ENSP00000399501:R1547C	ENSP00000262304:R1547C	R	-	1	0	PKD1	2100530	0.998000	0.40836	0.049000	0.19019	0.014000	0.08584	3.743000	0.55104	0.632000	0.30432	0.550000	0.68814	CGC	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341688.1		-	ENST00000262304.4	Missense_Mutation	SNP	16 : 2160529 - 2160529 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	710	147
APBA1	320	broad.mit.edu	37	9	72131056	72131056	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72131056G>A	ENST00000265381.4	-	2	1293	c.1071C>T	c.(1069-1071)atC>atT	p.I357I		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	357					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TCACCTCCTCGATGGCCTCCT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	94	105			NA	NA	9		NA											NA				72131056		2203	4300	6503	SO:0001819	synonymous_variant			AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282	320	320			578	protein-coding gene	gene with protein product		602414		MINT1	NA	7678331, 7719031	Standard	NM_001163	NM_001163	NA	Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1071C>T	9.37:g.72131056G>A		NA	O14914|O60570|Q5VYR8	37	CCDS6630.1																																																																																			APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052589.2		-	ENST00000265381.4	Silent	SNP	9 : 72131056 - 72131056 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	628	96
GPR125	166647	broad.mit.edu	37	4	22390383	22390383	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22390383T>G	ENST00000334304.5	-	19	3180	c.2911A>C	c.(2911-2913)Aat>Cat	p.N971H	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	971					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TCCTGATGATTTATTTCGCCA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	96	96			NA	NA	4		NA											NA				22390383		2203	4300	6503	SO:0001583	missense			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990	166647	166647		-, GPCR / Class B : Orphans, Immunoglobulin superfamily / I-set domain containing	13839	protein-coding gene	gene with protein product		612303			NA	12565841	Standard		NM_145290	NA	Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2911A>C	4.37:g.22390383T>G	ENSP00000334952:p.Asn971His	NA	Q6UXK9|Q86SQ5|Q8TC55	37	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	T	7.271	0.607184	0.14002	.	.	ENSG00000152990	ENST00000334304	T	0.53206	0.63	5.84	0.449	0.16619	GPCR, family 2-like (1);	0.655837	0.16888	N	0.195424	T	0.27731	0.0682	N	0.19112	0.55	0.09310	N	1	B;B	0.20671	0.003;0.047	B;B	0.19391	0.005;0.025	T	0.13818	-1.0495	10	0.41790	T	0.15	-1.4819	5.9665	0.19328	0.0:0.1913:0.2328:0.5759	.	828;971	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	H	971	ENSP00000334952:N971H	ENSP00000334952:N971H	N	-	1	0	GPR125	21999481	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	0.505000	0.22642	-0.118000	0.11851	0.528000	0.53228	AAT	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362960.3		-	ENST00000334304.5	Missense_Mutation	SNP	4 : 22390383 - 22390383 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	573	108
NDST3	9348	broad.mit.edu	37	4	119145758	119145758	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119145758C>T	ENST00000296499.5	+	7	2055	c.1652C>T	c.(1651-1653)aCt>aTt	p.T551I	NDST3_ENST00000433996.2_Missense_Mutation_p.T470I	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	551	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CGACTTCAGACTCTGCCTCCA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	97	97			NA	NA	4		NA											NA				119145758		2203	4299	6502	SO:0001583	missense			AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100	9348	9348		Sulfotransferases, membrane-bound	7682	protein-coding gene	gene with protein product		603950			NA	9915799	Standard	NM_004784	NM_004784	NA	Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.1652C>T	4.37:g.119145758C>T	ENSP00000296499:p.Thr551Ile	NA	Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	37	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.032221	0.93575	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.47177	1.11;0.85	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.73048	0.3537	M	0.83692	2.655	0.46823	D	0.999214	D;D	0.89917	0.986;1.0	P;D	0.76575	0.835;0.988	T	0.76085	-0.3088	10	0.66056	D	0.02	.	19.649	0.95793	0.0:1.0:0.0:0.0	.	470;551	B4DI67;O95803	.;NDST3_HUMAN	I	551;470	ENSP00000296499:T551I;ENSP00000396625:T470I	ENSP00000296499:T551I	T	+	2	0	NDST3	119365206	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.694000	0.84235	2.635000	0.89317	0.650000	0.86243	ACT	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256517.4		+	ENST00000296499.5	Missense_Mutation	SNP	4 : 119145758 - 119145758 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	479	51
BAMBI	25805	broad.mit.edu	37	10	28970438	28970438	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28970438C>T	ENST00000375533.3	+	2	884	c.328C>T	c.(328-330)Cac>Tac	p.H110Y		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	110					cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding	p.H110Y(1)		central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						CAGAGGGCTGCACGATGTTCT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	central_nervous_system(1)											103	111	108			NA	NA	10		NA											NA				28970438		2203	4300	6503	SO:0001583	missense			U23070	CCDS7162.1	10p12.3-p11.2	2013-07-23	2013-07-23		ENSG00000095739	ENSG00000095739	25805	25805			30251	protein-coding gene	gene with protein product		604444	BMP and activin membrane-bound inhibitor homolog (Xenopus laevis)		NA	8621228, 19758997	Standard	NM_012342	NM_012342	NA	Approved	NMA	uc001iuj.1	Q13145	OTTHUMG00000017874	ENST00000375533.3:c.328C>T	10.37:g.28970438C>T	ENSP00000364683:p.His110Tyr	NA		37	CCDS7162.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.104114	0.37145	.	.	ENSG00000095739	ENST00000375533;ENST00000542444	D	0.90069	-2.61	5.65	5.65	0.86999	.	0.224686	0.53938	D	0.000058	D	0.84469	0.5479	L	0.44542	1.39	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.003	T	0.78671	-0.2113	10	0.28530	T	0.3	-21.1251	13.9437	0.64071	0.0:0.9276:0.0:0.0724	.	110;110	Q13145;Q53G66	BAMBI_HUMAN;.	Y	110;97	ENSP00000364683:H110Y	ENSP00000364683:H110Y	H	+	1	0	BAMBI	29010444	1.000000	0.71417	0.952000	0.39060	0.723000	0.41478	6.037000	0.70956	2.668000	0.90789	0.655000	0.94253	CAC	BAMBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047374.1		+	ENST00000375533.3	Missense_Mutation	SNP	10 : 28970438 - 28970438 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	513	73
CUX1	1523	broad.mit.edu	37	7	101559470	101559470	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101559470G>A	ENST00000560541.1	+	0	727				CUX1_ENST00000550008.2_Missense_Mutation_p.E36K|CUX1_ENST00000549414.2_Missense_Mutation_p.E36K|CUX1_ENST00000292535.7_Missense_Mutation_p.E36K|CUX1_ENST00000292538.4_Missense_Mutation_p.E47K|CUX1_ENST00000425244.2_Missense_Mutation_p.E47K|CUX1_ENST00000360264.3_Missense_Mutation_p.E47K|CUX1_ENST00000547394.2_Missense_Mutation_p.E47K|CUX1_ENST00000437600.4_Missense_Mutation_p.E47K|CUX1_ENST00000546411.2_Missense_Mutation_p.E36K|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.E36K			P39880	CUX1_HUMAN	cut-like homeobox 1	NA					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GCGGCTTATCGAACAGAGCCG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	127	130			NA	NA	7		NA											NA				101559470		2203	4300	6503	SO:0001624	3_prime_UTR_variant			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923	1523	1523		Homeoboxes / CUT class	2557	protein-coding gene	gene with protein product	golgi integral membrane protein 6	116896	cut (Drosophila)-like 1 (CCAAT displacement protein), cut-like 1, CCAAT displacement protein (Drosophila)	CUTL1	NA	8468066, 9799793, 15004235	Standard	NM_001913	NM_001202543	NA	Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000560541.1:c.*724G>A	7.37:g.101559470G>A		NA	Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	37		.	.	.	.	.	.	.	.	.	.	G	26.8	4.768339	0.90020	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000393824;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T;T;T;T;T;T	0.70399	1.45;1.19;1.45;-0.48;1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.47	5.47	0.80525	.	0.076771	0.50627	D	0.000109	T	0.71995	0.3406	L	0.31664	0.95	0.80722	D	1	D;D;P;D;P;D	0.71674	0.998;0.985;0.882;0.991;0.669;0.998	P;B;B;P;B;P	0.54346	0.566;0.314;0.338;0.512;0.094;0.749	T	0.75317	-0.3360	10	0.66056	D	0.02	-27.7761	17.5093	0.87755	0.0:0.0:1.0:0.0	.	36;47;47;47;47;47	P39880;B3KV79;G3V1Z6;Q13948-2;Q13948;P39880-3	CUX1_HUMAN;.;.;.;CASP_HUMAN;.	K	47;47;47;47;47;47;36;36;36;36;36	ENSP00000292538:E47K;ENSP00000449371:E47K;ENSP00000353401:E47K;ENSP00000377410:E47K;ENSP00000409745:E47K;ENSP00000414091:E47K;ENSP00000292535:E36K;ENSP00000446630:E36K;ENSP00000447373:E36K;ENSP00000450125:E36K;ENSP00000451558:E36K	ENSP00000292535:E36K	E	+	1	0	CUX1	101346190	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.955000	0.93058	2.570000	0.86706	0.655000	0.94253	GAA	CUX1-019	KNOWN	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000418419.1		+	ENST00000560541.1	3'UTR	SNP	7 : 101559470 - 101559470 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	565	117
NCAPG2	54892	broad.mit.edu	37	7	158457323	158457323	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158457323C>A	ENST00000409339.3	-	14	1712	c.1599G>T	c.(1597-1599)gaG>gaT	p.E533D	NCAPG2_ENST00000541468.1_Missense_Mutation_p.E34D|NCAPG2_ENST00000356309.3_Missense_Mutation_p.E533D|NCAPG2_ENST00000275830.10_Missense_Mutation_p.E325D|NCAPG2_ENST00000449727.2_Missense_Mutation_p.E533D|NCAPG2_ENST00000409423.1_Missense_Mutation_p.E533D	NM_001281933.1	NP_001268862.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	533					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		ACCAGACCTCCTCCGGCTGAT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	96	94			NA	NA	7		NA											NA				158457323		2139	4259	6398	SO:0001583	missense			BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918	54892	54892			21904	protein-coding gene	gene with protein product		608532	leucine zipper protein 5	LUZP5	NA	14532007	Standard	NM_017760	NM_001281933	NA	Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409339.3:c.1599G>T	7.37:g.158457323C>A	ENSP00000387007:p.Glu533Asp	NA	A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.218489|4.218489	0.79464|0.79464	.|.	.|.	ENSG00000146918|ENSG00000146918	ENST00000541468;ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000545393;ENST00000449727|ENST00000441982	T;T;T;T;T;T|.	0.35236|.	1.32;1.41;1.41;1.49;1.41;1.41|.	5.71|5.71	3.88|3.88	0.44766|0.44766	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60196|0.60196	0.2250|0.2250	L|L	0.50333|0.50333	1.59|1.59	0.46458|0.46458	D|D	0.999054|0.999054	D;D;D;D|.	0.89917|.	1.0;0.996;0.999;1.0|.	D;P;D;D|.	0.87578|.	0.998;0.875;0.991;0.996|.	T|T	0.57985|0.57985	-0.7716|-0.7716	10|5	0.36615|.	T|.	0.2|.	-33.4837|-33.4837	11.8166|11.8166	0.52214|0.52214	0.0:0.8046:0.0:0.1954|0.0:0.8046:0.0:0.1954	.|.	533;34;325;533|.	Q86XI2-2;B4DHE5;E7EUH9;Q86XI2|.	.;.;.;CNDG2_HUMAN|.	D|M	34;533;533;325;533;34;533|335	ENSP00000442337:E34D;ENSP00000348657:E533D;ENSP00000386569:E533D;ENSP00000275830:E325D;ENSP00000387007:E533D;ENSP00000388326:E533D|.	ENSP00000275830:E325D|.	E|R	-|-	3|2	2|0	NCAPG2|NCAPG2	158150084|158150084	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.996000|0.996000	0.88848|0.88848	1.617000|1.617000	0.36943|0.36943	1.548000|1.548000	0.49413|0.49413	0.655000|0.655000	0.94253|0.94253	GAG|AGG	NCAPG2-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000327110.1		-	ENST00000409339.3	Missense_Mutation	SNP	7 : 158457323 - 158457323 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	607	96
OR51E1	143503	broad.mit.edu	37	11	4674108	4674108	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4674108C>A	ENST00000530215.1	+	1	171				OR51E1_ENST00000396952.5_Missense_Mutation_p.L118M			Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	NA					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCCACAGTGCTGCTGGCCAT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	83	93			NA	NA	11		NA											NA				4674108		2201	4298	6499	SO:0001627	intron_variant			AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785	143503	143503		GPCR / Class A : Olfactory receptors	15194	protein-coding gene	gene with protein product		611267	olfactory receptor, family 51, subfamily E, member 1 pseudogene	OR51E1P, OR52A3P, GPR164	NA		Standard	NM_152430	NM_152430	NA	Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000530215.1:c.130+222C>A	11.37:g.4674108C>A		NA	A8KAM6|Q5S4P5|Q66X57|Q6IF93	37		.	.	.	.	.	.	.	.	.	.	C	17.43	3.388700	0.61956	.	.	ENSG00000180785	ENST00000396952	D	0.86366	-2.11	4.66	2.8	0.32819	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42821	D	0.000652	D	0.93690	0.7984	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93031	0.6448	10	0.87932	D	0	.	9.6807	0.40067	0.0:0.8297:0.0:0.1703	.	117	Q8TCB6	O51E1_HUMAN	M	118	ENSP00000380155:L118M	ENSP00000380155:L118M	L	+	1	2	OR51E1	4630684	0.454000	0.25728	0.997000	0.53966	0.989000	0.77384	1.137000	0.31479	0.593000	0.29745	0.655000	0.94253	CTG	OR51E1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000385957.1		+	ENST00000530215.1	Intron	SNP	11 : 4674108 - 4674108 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	272	62
WDR25	79446	broad.mit.edu	37	14	100847746	100847746	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100847746G>A	ENST00000335290.6	+	2	711	c.485G>A	c.(484-486)aGc>aAc	p.S162N	WDR25_ENST00000554175.1_Missense_Mutation_p.S162N|WDR25_ENST00000554998.1_Missense_Mutation_p.S162N|WDR25_ENST00000402312.3_Missense_Mutation_p.S162N	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	162										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				AAAAATGGCAGCTCTTTTCAG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	91	88			NA	NA	14		NA											NA				100847746		2203	4300	6503	SO:0001583	missense			BC007953	CCDS32157.1	14q32.32	2013-01-09				ENSG00000176473	79446	79446		WD repeat domain containing	21064	protein-coding gene	gene with protein product			chromosome 14 open reading frame 67	C14orf67	NA	15587985	Standard	NM_024515	NM_001161476	NA	Approved	MGC4645	uc001yhn.3	Q64LD2		ENST00000335290.6:c.485G>A	14.37:g.100847746G>A	ENSP00000334148:p.Ser162Asn	NA	A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	37	CCDS32157.1	.	.	.	.	.	.	.	.	.	.	G	9.448	1.089731	0.20390	.	.	ENSG00000176473	ENST00000554998;ENST00000402312;ENST00000335290;ENST00000554175	T;T;T;T	0.66099	-0.19;-0.19;-0.19;1.78	5.53	0.307	0.15811	.	0.568068	0.17771	N	0.162570	T	0.44329	0.1288	L	0.35854	1.095	0.09310	N	0.999999	B	0.10296	0.003	B	0.08055	0.003	T	0.22068	-1.0227	10	0.35671	T	0.21	-8.6233	4.6728	0.12698	0.3262:0.0:0.5353:0.1385	.	162	Q64LD2	WDR25_HUMAN	N	162	ENSP00000450661:S162N;ENSP00000385540:S162N;ENSP00000334148:S162N;ENSP00000450727:S162N	ENSP00000334148:S162N	S	+	2	0	WDR25	99917499	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.463000	0.06696	-0.223000	0.09943	-0.345000	0.07892	AGC	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414312.1		+	ENST00000335290.6	Missense_Mutation	SNP	14 : 100847746 - 100847746 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	789	140
MUC16	94025	broad.mit.edu	37	19	9000566	9000566	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9000566G>A	ENST00000397910.4	-	54	40621	c.40418C>T	c.(40417-40419)aCc>aTc	p.T13473I	MUC16_ENST00000380951.5_Splice_Site_p.T114I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13475					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						AGGGCTGGCGGCTATAGTGAA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	105	112			NA	NA	19		NA											NA				9000566		1905	4125	6030	SO:0001630	splice_region_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.40418-1C>T	19.37:g.9000566G>A		NA	Q6ZQW5|Q96RK2	37	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	7.513|7.513	0.655018|0.655018	0.14580|0.14580	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.32515	.|1.45;1.96	2.84|2.84	1.78|1.78	0.24846|0.24846	.|SEA (2);	.|.	.|.	.|.	.|.	T|T	0.25865|0.25865	0.0630|0.0630	N|N	0.03608|0.03608	-0.345|-0.345	.|.	.|.	.|.	.|B;D	.|0.60575	.|0.012;0.988	.|B;D	.|0.71656	.|0.001;0.974	T|T	0.28964|0.28964	-1.0027|-1.0027	4|8	.|0.54805	.|T	.|0.06	.|.	5.6625|5.6625	0.17676|0.17676	0.1621:0.0:0.8379:0.0|0.1621:0.0:0.8379:0.0	.|.	.|21118;13473	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	S|I	313|13473;114	.|ENSP00000381008:T13473I;ENSP00000370338:T114I	.|ENSP00000370338:T114I	P|T	-|-	1|2	0|0	MUC16|MUC16	8861566|8861566	0.100000|0.100000	0.21855|0.21855	0.019000|0.019000	0.16419|0.16419	0.008000|0.008000	0.06430|0.06430	0.170000|0.170000	0.16663|0.16663	0.535000|0.535000	0.28714|0.28714	0.281000|0.281000	0.19383|0.19383	CCG|ACC	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1	Missense_Mutation	-	ENST00000397910.4	Splice_Site	SNP	19 : 9000566 - 9000566 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	65
NOX1	27035	broad.mit.edu	37	X	100117559	100117559	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100117559C>T	ENST00000372966.3	-	6	698	c.493G>A	c.(493-495)Gtg>Atg	p.V165M	NOX1_ENST00000217885.5_Missense_Mutation_p.V165M|NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.V128M	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	165	Ferric oxidoreductase.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						ACATACTCCACTGTCTGTGAA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													210	189	196			NA	NA	X		NA											NA				100117559		2203	4299	6502	SO:0001583	missense			AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952	27035	27035			7889	protein-coding gene	gene with protein product	mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating), NADPH oxidase homolog-1, NADPH oxidase 1 variant NOH-1L	300225			NA	10485709, 10615049	Standard	NM_007052	NM_007052	NA	Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.493G>A	X.37:g.100117559C>T	ENSP00000362057:p.Val165Met	NA	A8K836|O95691|Q2PP02	37	CCDS14474.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.308253	0.40895	.	.	ENSG00000007952	ENST00000372966;ENST00000217885;ENST00000372960	D;D;D	0.96041	-3.8;-3.89;-3.89	4.62	2.63	0.31362	Flavoprotein transmembrane component (1);	0.377590	0.22478	N	0.059521	D	0.92958	0.7759	L	0.45581	1.43	0.26616	N	0.972746	B;P;P	0.41498	0.18;0.708;0.752	B;B;P	0.45913	0.09;0.364;0.497	D	0.86420	0.1754	10	0.36615	T	0.2	-6.3206	7.5402	0.27733	0.3339:0.5205:0.1456:0.0	.	128;165;165	A6NGA6;Q9Y5S8-3;Q9Y5S8	.;.;NOX1_HUMAN	M	165;165;128	ENSP00000362057:V165M;ENSP00000217885:V165M;ENSP00000362051:V128M	ENSP00000217885:V165M	V	-	1	0	NOX1	100004215	0.505000	0.26131	0.993000	0.49108	0.984000	0.73092	0.251000	0.18257	1.018000	0.39521	0.600000	0.82982	GTG	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057495.1		-	ENST00000372966.3	Missense_Mutation	SNP	X : 100117559 - 100117559 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	890	233
CCDC173	129881	broad.mit.edu	37	2	170505813	170505813	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170505813G>T	ENST00000447353.1	-	8	1301	c.1196C>A	c.(1195-1197)gCt>gAt	p.A399D		NM_001085447.1	NP_001078916.1			coiled-coil domain containing 173	NA											NA						TTGTTCTTTAGCCTCTATTTT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	110	114			NA	NA	2		NA											NA				170505813		1823	4096	5919	SO:0001583	missense			BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479	129881	129881			25064	protein-coding gene	gene with protein product	hypothetical LOC129881		chromosome 2 open reading frame 77	C2orf77	NA	12477932	Standard	NM_001085447	NM_001085447	NA	Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.1196C>A	2.37:g.170505813G>T	ENSP00000391504:p.Ala399Asp	NA		37	CCDS46445.1	.	.	.	.	.	.	.	.	.	.	G	1.356	-0.590148	0.03799	.	.	ENSG00000154479	ENST00000447353	T	0.08634	3.07	4.98	0.65	0.17812	.	.	.	.	.	T	0.06096	0.0158	L	0.43152	1.355	0.43527	D	0.995805	B	0.06786	0.001	B	0.10450	0.005	T	0.35773	-0.9775	9	0.15499	T	0.54	.	4.8473	0.13519	0.0756:0.2475:0.506:0.1709	.	399	Q0VFZ6	CB077_HUMAN	D	399	ENSP00000391504:A399D	ENSP00000391504:A399D	A	-	2	0	C2orf77	170214059	0.909000	0.30893	0.496000	0.27539	0.954000	0.61252	1.207000	0.32333	-0.116000	0.11893	-0.499000	0.04595	GCT	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333954.2		-	ENST00000447353.1	Missense_Mutation	SNP	2 : 170505813 - 170505813 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	311	69
SENP2	59343	broad.mit.edu	37	3	185304209	185304209	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185304209G>A	ENST00000296257.5	+	1	248	c.8G>A	c.(7-9)aGa>aAa	p.R3K	SENP2_ENST00000427465.2_De_novo_Start_InFrame|SENP2_ENST00000465201.1_Intron|SENP2_ENST00000545472.1_Intron	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	3					mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GGTATGTACAGATGGCTGGTT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	104	103			NA	NA	3		NA											NA				185304209		2203	4300	6503	SO:0001583	missense			AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904	59343	59343			23116	protein-coding gene	gene with protein product		608261	SUMO1/sentrin/SMT3 specific protease 2		NA	11896061, 11489887	Standard	NM_021627	XM_005247690	NA	Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.8G>A	3.37:g.185304209G>A	ENSP00000296257:p.Arg3Lys	NA	Q8IW97|Q96SR2|Q9P2L5	37	CCDS33902.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.537215	0.45176	.	.	ENSG00000163904	ENST00000296257;ENST00000437107	T	0.21543	2.0	5.02	1.79	0.24919	.	0.147188	0.32068	N	0.006630	T	0.08802	0.0218	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20338	-1.0278	10	0.10377	T	0.69	-8.9996	5.2464	0.15498	0.487:0.0:0.513:0.0	.	3	Q9HC62	SENP2_HUMAN	K	3	ENSP00000296257:R3K	ENSP00000296257:R3K	R	+	2	0	SENP2	186786903	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.523000	0.22925	0.550000	0.28991	0.655000	0.94253	AGA	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345159.1		+	ENST00000296257.5	Missense_Mutation	SNP	3 : 185304209 - 185304209 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1127	219
H2AFZ	3015	broad.mit.edu	37	4	100870520	100870520	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100870520T>C	ENST00000296417.5	-	3	322	c.105A>G	c.(103-105)cgA>cgG	p.R35R	H2AFZ_ENST00000529158.1_5'UTR	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	35					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		ATTTTAGGTGTCGATGAATAC	0.483		NA									OREG0016271	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	60	60			NA	NA	4		NA											NA				100870520		2203	4300	6503	SO:0001819	synonymous_variant			X52317	CCDS3654.1	4q23	2011-01-27			ENSG00000164032	ENSG00000164032	3015	3015		Histones / Replication-independent	4741	protein-coding gene	gene with protein product		142763		H2AZ	NA	1697587	Standard	NM_002106	XM_005262971	NA	Approved	H2A.Z	uc003hvo.1	P0C0S5	OTTHUMG00000131048	ENST00000296417.5:c.105A>G	4.37:g.100870520T>C		1354	B2RD56|P17317|Q6I9U0	37	CCDS3654.1																																																																																			H2AFZ-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253695.1		-	ENST00000296417.5	Silent	SNP	4 : 100870520 - 100870520 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	241	30
DICER1	23405	broad.mit.edu	37	14	95572534	95572534	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95572534C>T	ENST00000526495.1	-	20	3122	c.2831G>A	c.(2830-2832)cGa>cAa	p.R944Q	DICER1_ENST00000393063.1_Missense_Mutation_p.R944Q|DICER1_ENST00000541352.1_Missense_Mutation_p.R944Q|DICER1_ENST00000343455.3_Missense_Mutation_p.R944Q|DICER1_ENST00000527414.1_Missense_Mutation_p.R944Q			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	944	PAZ.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TACATAAAATCGATGAGGCTG	0.308		NA	Mis F, N		sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	dicer 1, ribonuclease type III 		E, M, O	0													73	78	76			NA	NA	14		NA											NA				95572534		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697	23405	23405			17098	protein-coding gene	gene with protein product	dicer 1, double-stranded RNA-specific endoribonuclease	606241	Dicer1, Dcr-1 homolog (Drosophila), multinodular goitre 1	MNG1	NA	10051563, 10786632, 21205968	Standard		NM_177438	NA	Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.2831G>A	14.37:g.95572534C>T	ENSP00000437256:p.Arg944Gln	NA	A7E2D3|O95943|Q9UQ02	37	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452143	0.84209	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.09073	3.02;3.02;3.02;3.02;3.02	5.55	5.55	0.83447	Argonaute/Dicer protein, PAZ (4);	0.000000	0.85682	D	0.000000	T	0.26666	0.0652	L	0.58510	1.815	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.00308	-1.1829	10	0.30078	T	0.28	-9.8467	19.5062	0.95116	0.0:1.0:0.0:0.0	.	944	Q9UPY3	DICER_HUMAN	Q	944	ENSP00000343745:R944Q;ENSP00000437256:R944Q;ENSP00000376783:R944Q;ENSP00000435681:R944Q;ENSP00000444719:R944Q	ENSP00000343745:R944Q	R	-	2	0	DICER1	94642287	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.786000	0.85741	2.604000	0.88044	0.655000	0.94253	CGA	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387997.1		-	ENST00000526495.1	Missense_Mutation	SNP	14 : 95572534 - 95572534 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	499	85
LYG2	254773	broad.mit.edu	37	2	99863270	99863270	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99863270G>A	ENST00000409679.1	-	3	201	c.57C>T	c.(55-57)ggC>ggT	p.G19G	LYG2_ENST00000423800.1_Silent_p.G19G|LYG2_ENST00000333017.2_Silent_p.G19G|LYG2_ENST00000409238.1_Silent_p.G19G			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	19				G -> S (in Ref. 4; AAK16605/AAO32945).	cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						AGGGGTATGAGCCCCTGGAAG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	115	122			NA	NA	2		NA											NA				99863270		2203	4300	6503	SO:0001819	synonymous_variant			AF323919	CCDS2042.1	2q11.2	2008-02-05			ENSG00000185674	ENSG00000185674	254773	254773			29615	protein-coding gene	gene with protein product					NA	8889548, 12574869	Standard	NM_175735	NM_175735	NA	Approved	LYGH	uc002szw.1	Q86SG7	OTTHUMG00000130643	ENST00000409679.1:c.57C>T	2.37:g.99863270G>A		NA	Q53RW0	37																																																																																				LYG2-001	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000253131.2		-	ENST00000409679.1	Silent	SNP	2 : 99863270 - 99863270 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	69
ACSM5	54988	broad.mit.edu	37	16	20448438	20448438	+	Missense_Mutation	SNP	G	G	A	rs141553052	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20448438G>A	ENST00000331849.4	+	11	1520	c.1373G>A	c.(1372-1374)cGc>cAc	p.R458H		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	458					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GACCGAGCTCGCATGGACAAG	0.478		NA											G	2	9e-04	0.002	NA	2184	NA	0.9994	,	,	NA	4e-04	0.0013	NA	NA	9e-04	0.7367	LOWCOV,EXOME	NA	NA	0.001	SNP								NA				0								G	HIS/ARG	0,4406		0,0,2203	181	166	171		1373	-10.3	0	16	dbSNP_134	171	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACSM5	NM_017888.2	29	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	458/580	20448438	1,13005	2203	4300	6503	SO:0001583	missense				CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549	54988	54988		Acyl-CoA synthetase family	26060	protein-coding gene	gene with protein product		614361			NA	17762044	Standard	NM_017888	NM_017888	NA	Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1373G>A	16.37:g.20448438G>A	ENSP00000327916:p.Arg458His	NA	Q96AV1|Q96CX8|Q9NWV3	37	CCDS10585.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	G	8.711	0.911994	0.17907	0.0	1.16E-4	ENSG00000183549	ENST00000331849	T	0.50548	0.74	5.15	-10.3	0.00346	AMP-dependent synthetase/ligase (1);	1.371240	0.04612	N	0.400456	T	0.24005	0.0581	N	0.25031	0.7	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.06789	-1.0807	10	0.22706	T	0.39	-0.8747	3.6884	0.08336	0.19:0.0888:0.4284:0.2928	.	458	Q6NUN0	ACSM5_HUMAN	H	458	ENSP00000327916:R458H	ENSP00000327916:R458H	R	+	2	0	ACSM5	20355939	0.000000	0.05858	0.006000	0.13384	0.835000	0.47333	-0.596000	0.05720	-2.007000	0.00956	-0.781000	0.03364	CGC	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254413.1		+	ENST00000331849.4	Missense_Mutation	SNP	16 : 20448438 - 20448438 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	778	70
CLCNKA	1187	broad.mit.edu	37	1	16353838	16353838	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16353838A>C	ENST00000375692.1	+	9	817	c.689A>C	c.(688-690)cAc>cCc	p.H230P	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Missense_Mutation_p.H230P|CLCNKA_ENST00000439316.2_Missense_Mutation_p.H187P|CLCNKA_ENST00000331433.4_Missense_Mutation_p.H230P			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	230					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	ATGTCTTCCCACTTCTCTGTC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	97	97			NA	NA	1		NA											NA				16353838		2203	4300	6503	SO:0001583	missense				CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510	NA	1187		Ion channels / Chloride channels : Voltage-sensitive	2026	protein-coding gene	gene with protein product		602024	chloride channel Ka		NA	8544406	Standard		NM_004070	NA	Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000375692.1:c.689A>C	1.37:g.16353838A>C	ENSP00000364844:p.His230Pro	NA	Q5T5P8|Q7Z6D1|Q86VT1	37	CCDS41269.1	.	.	.	.	.	.	.	.	.	.	A	18.23	3.578506	0.65878	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37	3.02	3.02	0.34903	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.95993	0.8695	M	0.80183	2.485	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.95756	0.8796	10	0.72032	D	0.01	.	10.7799	0.46371	1.0:0.0:0.0:0.0	.	187;230;230	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	P	230;230;187;230	ENSP00000364844:H230P;ENSP00000410353:H230P;ENSP00000414445:H187P;ENSP00000332771:H230P	ENSP00000332771:H230P	H	+	2	0	CLCNKA	16226425	0.807000	0.29009	1.000000	0.80357	0.974000	0.67602	1.689000	0.37700	1.368000	0.46115	0.260000	0.18958	CAC	CLCNKA-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026327.1		+	ENST00000375692.1	Missense_Mutation	SNP	1 : 16353838 - 16353838 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	787	73
NUDT19	390916	broad.mit.edu	37	19	33202821	33202821	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33202821C>T	ENST00000397061.3	+	3	1086	c.1086C>T	c.(1084-1086)caC>caT	p.H362H		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	362						mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					AGTATAAACACGTTTATCCTA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	139	142			NA	NA	19		NA											NA				33202821		1906	4125	6031	SO:0001819	synonymous_variant				CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965	390916	390916		Nudix motif containing	32036	protein-coding gene	gene with protein product					NA		Standard	XM_372723	NM_001105570	NA	Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.1086C>T	19.37:g.33202821C>T		NA		37	CCDS42543.1																																																																																			NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450338.3		+	ENST00000397061.3	Silent	SNP	19 : 33202821 - 33202821 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	830	132
CPNE2	221184	broad.mit.edu	37	16	57149461	57149461	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57149461C>T	ENST00000535318.2	+	5	795	c.434C>T	c.(433-435)aCg>aTg	p.T145M	CPNE2_ENST00000290776.8_Splice_Site_p.T145M|CPNE2_ENST00000565874.1_Splice_Site_p.T145M|CPNE2_ENST00000537605.1_Splice_Site_p.T43M			Q96FN4	CPNE2_HUMAN	copine II	145	C2 2.									central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				GGCTTGATTACGGTACCAGTC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	MET/THR	2,4394	4.2+/-10.8	0,2,2196	77	68	71		434	3.8	1	16		71	0,8600		0,0,4300	no	missense-near-splice	CPNE2	NM_152727.5	81	0,2,6496	TT,TC,CC	NA	0.0,0.0455,0.0154	probably-damaging	145/549	57149461	2,12994	2198	4300	6498	SO:0001630	splice_region_variant				CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848	221184	221184			2315	protein-coding gene	gene with protein product		604206			NA	9430674	Standard	NM_152727	NM_152727	NA	Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471	ENST00000535318.2:c.435+1C>T	16.37:g.57149461C>T		NA	Q68D19|Q86XP9	37	CCDS10774.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527307	0.44969	4.55E-4	0.0	ENSG00000140848	ENST00000290776;ENST00000537605;ENST00000535318	T;T;T	0.09255	3.43;3.0;3.43	4.73	3.78	0.43462	C2 calcium/lipid-binding domain, CaLB (2);	0.000000	0.85682	D	0.000000	T	0.24547	0.0595	M	0.83852	2.665	0.54753	D	0.999988	D;P	0.69078	0.997;0.668	P;B	0.50231	0.635;0.207	T	0.11108	-1.0601	10	0.66056	D	0.02	-10.54	13.0984	0.59206	0.0:0.9224:0.0:0.0776	.	145;145	A8K8A4;Q96FN4	.;CPNE2_HUMAN	M	145;43;145	ENSP00000290776:T145M;ENSP00000445468:T43M;ENSP00000439018:T145M	ENSP00000290776:T145M	T	+	2	0	CPNE2	55706962	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	3.616000	0.54174	1.015000	0.39444	-0.119000	0.15052	ACG	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432986.2	Missense_Mutation	+	ENST00000535318.2	Splice_Site	SNP	16 : 57149461 - 57149461 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	65
NCKAP1	10787	broad.mit.edu	37	2	183791578	183791578	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183791578C>A	ENST00000361354.4	-	30	3608	c.3236G>T	c.(3235-3237)aGa>aTa	p.R1079I	NCKAP1_ENST00000360982.2_Missense_Mutation_p.R1085I	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	NA					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTCTCTATTTCTTGTTGTAGT	0.313		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	2		NA											NA				183791578		2202	4297	6499	SO:0001583	missense			AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676	10787	10787			7666	protein-coding gene	gene with protein product		604891			NA	10673335, 12181570, 9344857	Standard	NM_205842	NM_013436	NA	Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.3236G>T	2.37:g.183791578C>A	ENSP00000355348:p.Arg1079Ile	NA	O60329|Q53QN5|Q53S94|Q53Y35	37	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	C	32	5.162703	0.94727	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.34859	1.34;1.34	5.36	5.36	0.76844	.	0.046284	0.85682	D	0.000000	T	0.56775	0.2008	M	0.63843	1.955	0.80722	D	1	D;D	0.76494	0.999;0.998	P;P	0.61800	0.894;0.83	T	0.59118	-0.7514	10	0.66056	D	0.02	-11.3828	19.0627	0.93099	0.0:1.0:0.0:0.0	.	1079;1085	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	I	1079;1085	ENSP00000355348:R1079I;ENSP00000354251:R1085I	ENSP00000354251:R1085I	R	-	2	0	NCKAP1	183499823	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.578000	0.82498	2.487000	0.83934	0.585000	0.79938	AGA	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255867.2		-	ENST00000361354.4	Missense_Mutation	SNP	2 : 183791578 - 183791578 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	91
ASIC3	9311	broad.mit.edu	37	7	150746403	150746403	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150746403T>G	ENST00000357922.4	+	1	1025	c.431T>G	c.(430-432)tTt>tGt	p.F144C	ASIC3_ENST00000349064.5_Missense_Mutation_p.F144C|ASIC3_ENST00000297512.8_Missense_Mutation_p.F144C	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN	acid-sensing (proton-gated) ion channel 3	144					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity				NA						AGTCCCACCTTTGACATGGCG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	53	53			NA	NA	7		NA											NA				150746403		2203	4300	6503	SO:0001583	missense			AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199	9311	9311		Ion channels / Acid-sensing (proton-gated) ion channels	101	protein-coding gene	gene with protein product	testis sodium channel 1	611741	amiloride-sensitive cation channel 3, testis, amiloride-sensitive cation channel 3	ACCN3	NA	9571199, 9744806	Standard	NM_004769	NM_004769	NA	Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000357922.4:c.431T>G	7.37:g.150746403T>G	ENSP00000350600:p.Phe144Cys	NA	B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	37	CCDS5914.1	.	.	.	.	.	.	.	.	.	.	T	19.32	3.805760	0.70682	.	.	ENSG00000213199	ENST00000357922;ENST00000349064;ENST00000297512	T;T;T	0.66995	-0.24;-0.24;-0.24	5.29	4.0	0.46444	.	0.250837	0.20540	U	0.090326	T	0.80670	0.4667	M	0.87269	2.87	0.36503	D	0.869135	D;D;D	0.76494	0.995;0.999;0.998	D;D;D	0.70016	0.944;0.967;0.961	D	0.84765	0.0764	10	0.72032	D	0.01	-14.7272	7.5997	0.28069	0.3115:0.0:0.0:0.6885	.	144;144;144	Q9UHC3-2;Q9UHC3-3;Q9UHC3	.;.;ACCN3_HUMAN	C	144	ENSP00000350600:F144C;ENSP00000344838:F144C;ENSP00000297512:F144C	ENSP00000297512:F144C	F	+	2	0	ACCN3	150377336	0.136000	0.22515	1.000000	0.80357	0.925000	0.55904	0.467000	0.22035	2.142000	0.66516	0.459000	0.35465	TTT	ASIC3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351723.2		+	ENST00000357922.4	Missense_Mutation	SNP	7 : 150746403 - 150746403 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	360	67
DCHS1	8642	broad.mit.edu	37	11	6661247	6661247	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6661247G>A	ENST00000299441.3	-	2	2009	c.1598C>T	c.(1597-1599)gCt>gTt	p.A533V		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	533	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGTGAGGCAGCCGTAGTGAT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	73	75			NA	NA	11		NA											NA				6661247		2201	4296	6497	SO:0001583	missense			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341	8642	8642		Cadherins / Cadherin-related	13681	protein-coding gene	gene with protein product	cadherin-related family member 6	603057	protocadherin 16, dachsous 1 (Drosophila)	CDH25, PCDH16	NA	9199196	Standard	NM_003737	XM_005253207	NA	Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.1598C>T	11.37:g.6661247G>A	ENSP00000299441:p.Ala533Val	NA	O15098	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	4.278	0.050784	0.08243	.	.	ENSG00000166341	ENST00000299441	T	0.51071	0.72	5.18	5.18	0.71444	Cadherin (4);Cadherin-like (1);	0.181621	0.26711	N	0.022890	T	0.57227	0.2039	L	0.28115	0.83	0.37390	D	0.912414	D	0.76494	0.999	D	0.83275	0.996	T	0.59685	-0.7408	10	0.36615	T	0.2	.	18.0581	0.89369	0.0:0.0:1.0:0.0	.	533	Q96JQ0	PCD16_HUMAN	V	533	ENSP00000299441:A533V	ENSP00000299441:A533V	A	-	2	0	DCHS1	6617823	1.000000	0.71417	0.231000	0.23993	0.408000	0.30992	3.776000	0.55356	2.588000	0.87417	0.579000	0.79373	GCT	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257258.1		-	ENST00000299441.3	Missense_Mutation	SNP	11 : 6661247 - 6661247 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	319	73
SLC6A18	348932	broad.mit.edu	37	5	1242833	1242833	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1242833G>T	ENST00000324642.3	+	8	1109	c.986G>T	c.(985-987)aGc>aTc	p.S329I	SLC6A18_ENST00000296821.4_Intron	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	329					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			AACATCCTCAGCCTCATCAAC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	144	156			NA	NA	5		NA											NA				1242833		2203	4300	6503	SO:0001583	missense			AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363	348932	348932		Solute carriers	26441	protein-coding gene	gene with protein product		610300	solute carrier family 6 (neurotransmitter transporter), member 18, solute carrier family 6, member 18		NA	19478081	Standard	NM_182632	NM_182632	NA	Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.986G>T	5.37:g.1242833G>T	ENSP00000323549:p.Ser329Ile	NA		37	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	G	0.036	-1.306277	0.01353	.	.	ENSG00000164363	ENST00000324642	T	0.74842	-0.88	4.71	-2.25	0.06888	.	0.911571	0.09481	N	0.796400	T	0.44746	0.1308	N	0.10733	0.035	0.09310	N	1	B	0.25772	0.134	B	0.23018	0.043	T	0.21724	-1.0237	10	0.18276	T	0.48	.	1.7053	0.02881	0.1583:0.129:0.3165:0.3962	.	329	Q96N87	S6A18_HUMAN	I	329	ENSP00000323549:S329I	ENSP00000323549:S329I	S	+	2	0	SLC6A18	1295833	0.002000	0.14202	0.001000	0.08648	0.119000	0.20118	0.223000	0.17719	-0.985000	0.03503	-0.268000	0.10319	AGC	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206728.3		+	ENST00000324642.3	Missense_Mutation	SNP	5 : 1242833 - 1242833 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	346	54
SMPD3	55512	broad.mit.edu	37	16	68404770	68404770	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68404770A>G	ENST00000219334.5	-	3	1918	c.1315T>C	c.(1315-1317)Ttt>Ctt	p.F439L	SMPD3_ENST00000563226.1_Missense_Mutation_p.F439L|SMPD3_ENST00000566009.1_5'UTR|SMPD3_ENST00000568373.1_Missense_Mutation_p.F439L	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	439					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	ACCTTGAGAAACAGAGCTCCC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	49	48			NA	NA	16		NA											NA				68404770		2198	4300	6498	SO:0001583	missense			AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056	55512	55512			14240	protein-coding gene	gene with protein product		605777			NA	10823942	Standard	NM_018667	NM_018667	NA	Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.1315T>C	16.37:g.68404770A>G	ENSP00000219334:p.Phe439Leu	NA	Q2M1S8	37	CCDS10867.1	.	.	.	.	.	.	.	.	.	.	A	12.89	2.072488	0.36566	.	.	ENSG00000103056	ENST00000219334	T	0.27890	1.64	5.37	5.37	0.77165	Endonuclease/exonuclease/phosphatase (2);	0.047576	0.85682	D	0.000000	T	0.24661	0.0598	L	0.29908	0.895	0.47819	D	0.99952	B;B;B	0.21225	0.003;0.053;0.053	B;B;B	0.27715	0.007;0.082;0.082	T	0.05971	-1.0853	10	0.23891	T	0.37	-5.2878	13.319	0.60423	1.0:0.0:0.0:0.0	.	439;439;439	B7ZL82;B7ZL84;Q9NY59	.;.;NSMA2_HUMAN	L	439	ENSP00000219334:F439L	ENSP00000219334:F439L	F	-	1	0	SMPD3	66962271	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.837000	0.75354	2.036000	0.60181	0.533000	0.62120	TTT	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268895.3		-	ENST00000219334.5	Missense_Mutation	SNP	16 : 68404770 - 68404770 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	135	27
CNN3	1266	broad.mit.edu	37	1	95363358	95363358	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:95363358G>A	ENST00000370206.4	-	7	1313	c.930C>T	c.(928-930)ggC>ggT	p.G310G	CNN3_ENST00000394202.4_Silent_p.G264G|CNN3_ENST00000538964.1_Silent_p.G310G|CNN3_ENST00000545882.1_Silent_p.G269G	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	310	Asp/Glu-rich (acidic).				actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		CCTGGTACTCGCCATGATACT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													265	231	242			NA	NA	1		NA											NA				95363358		2203	4300	6503	SO:0001819	synonymous_variant			BC025372	CCDS30775.1, CCDS65592.1, CCDS65593.1	1p22-p21	2010-07-08			ENSG00000117519	ENSG00000117519	1266	1266			2157	protein-coding gene	gene with protein product		602374			NA	8526917	Standard	NM_001839	NM_001839	NA	Approved		uc001dqz.4	Q15417	OTTHUMG00000010783	ENST00000370206.4:c.930C>T	1.37:g.95363358G>A		NA		37	CCDS30775.1																																																																																			CNN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029702.2		-	ENST00000370206.4	Silent	SNP	1 : 95363358 - 95363358 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	897	60
PTPN4	5775	broad.mit.edu	37	2	120692461	120692461	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120692461C>T	ENST00000263708.2	+	15	2053	c.1282C>T	c.(1282-1284)Cca>Tca	p.P428S	PTPN4_ENST00000544261.1_Missense_Mutation_p.P61S	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	428						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TCATACTTCCCCAAGCGAAGT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	128	133			NA	NA	2		NA											NA				120692461		2203	4300	6503	SO:0001583	missense				CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179	5775	5775		Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor	9656	protein-coding gene	gene with protein product		176878			NA	1648233	Standard		NM_002830	NA	Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.1282C>T	2.37:g.120692461C>T	ENSP00000263708:p.Pro428Ser	NA	B2RBV8|Q9UDA7	37	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317165	0.81469	.	.	ENSG00000088179	ENST00000263708;ENST00000544261;ENST00000431283	T;T;T	0.56103	0.48;0.48;0.48	5.75	3.88	0.44766	.	0.046193	0.85682	D	0.000000	T	0.42268	0.1195	L	0.34521	1.04	0.50171	D	0.99985	B	0.25667	0.131	B	0.25140	0.058	T	0.26916	-1.0089	10	0.45353	T	0.12	.	13.0295	0.58835	0.129:0.747:0.1239:0.0	.	428	P29074	PTN4_HUMAN	S	428;61;54	ENSP00000263708:P428S;ENSP00000445841:P61S;ENSP00000387457:P54S	ENSP00000263708:P428S	P	+	1	0	PTPN4	120408931	0.999000	0.42202	0.756000	0.31282	0.979000	0.70002	4.104000	0.57790	0.828000	0.34709	0.650000	0.86243	CCA	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254233.2		+	ENST00000263708.2	Missense_Mutation	SNP	2 : 120692461 - 120692461 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	367	102
NOD1	10392	broad.mit.edu	37	7	30491717	30491717	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30491717C>A	ENST00000222823.4	-	6	1841	c.1316G>T	c.(1315-1317)aGc>aTc	p.S439I		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	439	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|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	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CACCAGGCTGCTGGGCTGCAT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	54	54			NA	NA	7		NA											NA				30491717		2203	4300	6503	SO:0001583	missense			AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100	10392	10392		Nucleotide-binding domain and leucine rich repeat containing	16390	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1, NLR family, CARD domain containing 1	605980	caspase recruitment domain family, member 4	CARD4	NA	10224040, 10329646	Standard		NM_006092	NA	Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.1316G>T	7.37:g.30491717C>A	ENSP00000222823:p.Ser439Ile	NA	Q549U4|Q8IWF5	37	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.383985	0.25031	.	.	ENSG00000106100	ENST00000222823	T	0.71934	-0.61	5.71	1.63	0.23807	NACHT nucleoside triphosphatase (1);	0.663946	0.17186	N	0.183688	T	0.52419	0.1733	N	0.14661	0.345	0.38005	D	0.934361	B	0.09022	0.002	B	0.04013	0.001	T	0.46952	-0.9154	10	0.41790	T	0.15	.	12.7173	0.57121	0.078:0.6397:0.2823:0.0	.	439	Q9Y239	NOD1_HUMAN	I	439	ENSP00000222823:S439I	ENSP00000222823:S439I	S	-	2	0	NOD1	30458242	0.998000	0.40836	0.956000	0.39512	0.962000	0.63368	2.780000	0.47742	0.308000	0.22923	0.563000	0.77884	AGC	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250443.2		-	ENST00000222823.4	Missense_Mutation	SNP	7 : 30491717 - 30491717 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	468	42
TNRC18	84629	broad.mit.edu	37	7	5430201	5430201	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5430201C>T	ENST00000399537.4	-	4	750	c.402G>A	c.(400-402)gaG>gaA	p.E134E	TNRC18_ENST00000399434.2_Silent_p.E60E|TNRC18_ENST00000430969.1_Silent_p.E134E			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	134							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TGCTGGGGGGCTCCAGGTGGT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,3696		0,0,1848	18	23	21		402	1.4	1	7		21	1,8161		0,1,4080	no	coding-synonymous	TNRC18	NM_001080495.2		0,1,5928	TT,TC,CC	NA	0.0123,0.0,0.0084		134/2969	5430201	1,11857	1848	4081	5929	SO:0001819	synonymous_variant			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095	84629	84629		Trinucleotide (CAG) repeat containing	11962	protein-coding gene	gene with protein product					NA	9225980	Standard		NM_001080495	NA	Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000399537.4:c.402G>A	7.37:g.5430201C>T		NA	A8MX41|Q96JH1|Q96K91	37																																																																																				TNRC18-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000324088.6		-	ENST00000399537.4	Silent	SNP	7 : 5430201 - 5430201 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	147	21
SFXN1	94081	broad.mit.edu	37	5	174937166	174937166	+	Silent	SNP	C	C	T	rs146805862		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174937166C>T	ENST00000321442.5	+	4	644	c.390C>T	c.(388-390)gtC>gtT	p.V130V	SFXN1_ENST00000502393.1_Silent_p.V130V	NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	130					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCAATGCCGTCGTCAATTACA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4405	2.1+/-5.4	0,1,2202	162	121	135		390	-1.5	0.3	5	dbSNP_134	135	0,8600		0,0,4300	no	coding-synonymous	SFXN1	NM_022754.5		0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077		130/323	174937166	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF327346	CCDS4394.1	5q35.3	2008-02-05			ENSG00000164466	ENSG00000164466	94081	94081		Sideroflexins	16085	protein-coding gene	gene with protein product		615569			NA		Standard	NM_022754	NM_022754	NA	Approved	FLJ12876	uc003mda.2	Q9H9B4	OTTHUMG00000130555	ENST00000321442.5:c.390C>T	5.37:g.174937166C>T		NA	B3KPW3|D3DQN2|Q9HA53	37	CCDS4394.1																																																																																			SFXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252980.2		+	ENST00000321442.5	Silent	SNP	5 : 174937166 - 174937166 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	134	38
TTC37	9652	broad.mit.edu	37	5	94814107	94814107	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:94814107C>A	ENST00000358746.2	-	40	4550	c.4252G>T	c.(4252-4254)Gct>Tct	p.A1418S		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1418							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ATCTCTGCAGCTCTCATCATT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	101	105			NA	NA	5		NA											NA				94814107		2203	4300	6503	SO:0001583	missense			AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677	9652	9652		Tetratricopeptide (TTC) repeat domain containing	23639	protein-coding gene	gene with protein product		614589	KIAA0372	KIAA0372	NA	9205841	Standard	NM_014639	NM_014639	NA	Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.4252G>T	5.37:g.94814107C>A	ENSP00000351596:p.Ala1418Ser	NA	O15077|Q6PJI3	37	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	c	19.19	3.778824	0.70107	.	.	ENSG00000198677	ENST00000358746	T	0.63913	-0.07	5.69	5.69	0.88448	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.239529	0.43260	D	0.000592	T	0.58637	0.2136	L	0.27053	0.805	0.28065	N	0.932795	P	0.45283	0.855	P	0.48598	0.583	T	0.51568	-0.8689	10	0.13853	T	0.58	.	19.8248	0.96612	0.0:1.0:0.0:0.0	.	1418	Q6PGP7	TTC37_HUMAN	S	1418	ENSP00000351596:A1418S	ENSP00000351596:A1418S	A	-	1	0	TTC37	94839863	0.999000	0.42202	0.991000	0.47740	0.916000	0.54674	4.296000	0.59055	2.686000	0.91538	0.645000	0.84053	GCT	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000241651.1		-	ENST00000358746.2	Missense_Mutation	SNP	5 : 94814107 - 94814107 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	67
XPOT	11260	broad.mit.edu	37	12	64841907	64841907	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64841907C>A	ENST00000332707.5	+	25	3414	c.2885C>A	c.(2884-2886)cCc>cAc	p.P962H		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	962	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		AGAGCAAAGCCCTGAGGACTG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	129	132			NA	NA	12		NA											NA				64841907		2203	4300	6503	SO:0001583	missense			AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575	11260	11260		Exportins	12826	protein-coding gene	gene with protein product		603180	exportin, tRNA (nuclear export receptor for tRNAs)		NA	9660920, 9512417	Standard	NM_007235	NM_007235	NA	Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.2885C>A	12.37:g.64841907C>A	ENSP00000327821:p.Pro962His	NA	A6NLH1|O43784|Q8WUG2|Q9BVS7	37	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.886625	0.72410	.	.	ENSG00000184575	ENST00000332707	T	0.26067	1.76	5.62	5.62	0.85841	.	0.107943	0.64402	D	0.000003	T	0.31071	0.0785	N	0.08118	0	0.47698	D	0.999495	D	0.63046	0.992	D	0.72338	0.977	T	0.20706	-1.0267	9	.	.	.	.	17.806	0.88601	0.0:1.0:0.0:0.0	.	962	O43592	XPOT_HUMAN	H	962	ENSP00000327821:P962H	.	P	+	2	0	XPOT	63128174	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	4.484000	0.60271	2.820000	0.97059	0.650000	0.86243	CCC	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401122.1		+	ENST00000332707.5	Missense_Mutation	SNP	12 : 64841907 - 64841907 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	496	84
C20orf194	25943	broad.mit.edu	37	20	3245112	3245112	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3245112G>A	ENST00000252032.9	-	31	2912	c.2845C>T	c.(2845-2847)Cga>Tga	p.R949*	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	949										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TATCGAGATCGTAGCATCTCA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	87	89			NA	NA	20		NA											NA				3245112		1845	4094	5939	SO:0001587	stop_gained			AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854	25943	25943			17721	protein-coding gene	gene with protein product		614146			NA		Standard	NM_001009984	NM_001009984	NA	Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.2845C>T	20.37:g.3245112G>A	ENSP00000252032:p.Arg949*	NA	Q66K86|Q6P2R9|Q9UFX9	37	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	G	40	7.937150	0.98571	.	.	ENSG00000088854	ENST00000252032	.	.	.	5.14	4.06	0.47325	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8059	0.46518	0.0:0.0:0.5873:0.4126	.	.	.	.	X	949	.	ENSP00000252032:R949X	R	-	1	2	C20orf194	3193112	1.000000	0.71417	0.993000	0.49108	0.972000	0.66771	5.333000	0.65917	2.548000	0.85928	0.650000	0.86243	CGA	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077734.1		-	ENST00000252032.9	Nonsense_Mutation	SNP	20 : 3245112 - 3245112 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	257	49
FMN1	342184	broad.mit.edu	37	15	33149272	33149272	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33149272G>T	ENST00000559047.1	-	14	3871	c.3872C>A	c.(3871-3873)tCc>tAc	p.S1291Y	FMN1_ENST00000334528.9_Missense_Mutation_p.S1068Y|FMN1_ENST00000561249.1_Missense_Mutation_p.S1193Y			Q68DA7	FMN1_HUMAN	formin 1	1291	FH2.				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CTCCTTTGGGGACTCCTTGCA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	132	132			NA	NA	15		NA											NA				33149272		1955	4146	6101	SO:0001583	missense			AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905	342184	342184			3768	protein-coding gene	gene with protein product	limb deformity protein	136535	formin (limb deformity)	LD, FMN	NA	1673046	Standard	NM_001103184	NM_001277313	NA	Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.3872C>A	15.37:g.33149272G>T	ENSP00000454047:p.Ser1291Tyr	NA	Q3B7I6|Q3ZAR4|Q6ZSY1	37		.	.	.	.	.	.	.	.	.	.	G	18.88	3.717737	0.68844	.	.	ENSG00000248905	ENST00000334528	T	0.66460	-0.21	4.82	4.82	0.62117	.	0.056948	0.64402	D	0.000001	D	0.83059	0.5172	M	0.85373	2.75	.	.	.	D	0.89917	1.0	D	0.87578	0.998	D	0.86841	0.2017	9	0.87932	D	0	.	15.2718	0.73708	0.0:0.0:1.0:0.0	.	1068	Q68DA7-5	.	Y	1068	ENSP00000333950:S1068Y	ENSP00000333950:S1068Y	S	-	2	0	FMN1	30936564	1.000000	0.71417	0.956000	0.39512	0.985000	0.73830	6.038000	0.70964	2.664000	0.90586	0.650000	0.86243	TCC	FMN1-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000417414.1		-	ENST00000559047.1	Missense_Mutation	SNP	15 : 33149272 - 33149272 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	444	41
LDLRAD1	388633	broad.mit.edu	37	1	54474776	54474776	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54474776C>T	ENST00000371360.1	-	6	514	c.497G>A	c.(496-498)gGg>gAg	p.G166E	LDLRAD1_ENST00000545928.1_Missense_Mutation_p.G123E|LDLRAD1_ENST00000420619.1_Missense_Mutation_p.G127E|LDLRAD1_ENST00000371362.3_Missense_Mutation_p.G77E	NM_001010978.2	NP_001010978.2	Q5T700	LRAD1_HUMAN	low density lipoprotein receptor class A domain containing 1	166	LDL-receptor class A 3; atypical.					integral to membrane	receptor activity			large_intestine(3)|prostate(1)|skin(3)	7						GCGCCACCACCCAGGGCCGCA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	96	97			NA	NA	1		NA											NA				54474776		2203	4300	6503	SO:0001583	missense				CCDS30725.1, CCDS60145.1, CCDS60146.1, CCDS60147.1	1p32.3	2008-02-05	2005-10-07		ENSG00000203985	ENSG00000203985	388633	388633			32069	protein-coding gene	gene with protein product			low density lipoprotein receptor A domain containing 1		NA		Standard	NM_001010978	NM_001010978	NA	Approved		uc001cwm.2	Q5T700	OTTHUMG00000008433	ENST00000371360.1:c.497G>A	1.37:g.54474776C>T	ENSP00000360411:p.Gly166Glu	NA	A0PJY0|Q5T6Z9	37	CCDS30725.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.239336	0.39598	.	.	ENSG00000203985	ENST00000371362;ENST00000371360;ENST00000545928;ENST00000420619	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	4.5	3.5	0.40072	.	0.116551	0.38897	N	0.001529	T	0.81983	0.4938	M	0.63428	1.95	0.36118	D	0.845287	B;B	0.12013	0.0;0.005	B;B	0.11329	0.002;0.006	T	0.71087	-0.4694	10	0.08381	T	0.77	-21.6953	4.3843	0.11309	0.0:0.7093:0.0:0.2907	.	123;166	B7ZME3;Q5T700	.;LRAD1_HUMAN	E	77;166;123;127	ENSP00000360413:G77E;ENSP00000360411:G166E;ENSP00000445871:G123E;ENSP00000411017:G127E	ENSP00000360411:G166E	G	-	2	0	LDLRAD1	54247364	0.019000	0.18553	0.980000	0.43619	0.607000	0.37147	0.674000	0.25218	2.348000	0.79779	0.655000	0.94253	GGG	LDLRAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000023243.1		-	ENST00000371360.1	Missense_Mutation	SNP	1 : 54474776 - 54474776 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	813	74
MUC16	94025	broad.mit.edu	37	19	8995635	8995635	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8995635C>T	ENST00000397910.4	-	63	41556	c.41353G>A	c.(41353-41355)Gct>Act	p.A13785T	MUC16_ENST00000380951.5_Splice_Site_p.A426T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13787				Missing (in Ref. 3; AAK74120).	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						TGGTACTTACCTGAAGGGCCA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	53	54			NA	NA	19		NA											NA				8995635		1911	4126	6037	SO:0001630	splice_region_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.41353+1G>A	19.37:g.8995635C>T		NA	Q6ZQW5|Q96RK2	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	10.34	1.322407	0.23994	.	.	ENSG00000181143	ENST00000397910;ENST00000380951	T;T	0.37058	1.22;1.22	1.27	1.27	0.21489	.	.	.	.	.	T	0.34600	0.0903	N	0.16368	0.405	.	.	.	D;P	0.57571	0.98;0.954	P;D	0.66351	0.892;0.943	T	0.38351	-0.9665	7	.	.	.	.	5.9958	0.19493	0.0:1.0:0.0:0.0	.	21430;13785	Q8WXI7;B5ME49	MUC16_HUMAN;.	T	13785;426	ENSP00000381008:A13785T;ENSP00000370338:A426T	.	A	-	1	0	MUC16	8856635	0.138000	0.22547	0.012000	0.15200	0.019000	0.09904	0.967000	0.29344	1.038000	0.40049	0.436000	0.28706	GCT	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1	Missense_Mutation	-	ENST00000397910.4	Splice_Site	SNP	19 : 8995635 - 8995635 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	86	16
EFTUD2	9343	broad.mit.edu	37	17	42932031	42932031	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42932031A>G	ENST00000426333.2	-	22	2449	c.2152T>C	c.(2152-2154)Ttc>Ctc	p.F718L	EFTUD2_ENST00000402521.3_Missense_Mutation_p.F683L|EFTUD2_ENST00000591382.1_Missense_Mutation_p.F718L|EFTUD2_ENST00000592576.1_Missense_Mutation_p.F708L	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	718						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TTGGTCTGGAAGAACTCTCCC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(10;65 485 10258 29980 30707)							NA				0													72	68	70			NA	NA	17		NA											NA				42932031		2203	4300	6503	SO:0001583	missense			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883	9343	9343			30858	protein-coding gene	gene with protein product	U5 snRNP specific protein, 116 kD	603892			NA	9233818	Standard	NM_004247	NM_004247	NA	Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.2152T>C	17.37:g.42932031A>G	ENSP00000392094:p.Phe718Leu	NA	D3DX58|Q9BUR0	37	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	A	18.85	3.710728	0.68730	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.26373	1.74;1.74	5.14	5.14	0.70334	Ribosomal protein S5 domain 2-type fold (1);Translation elongation factor EFG/EF2, domain IV (2);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.19846	0.0477	N	0.17082	0.46	0.80722	D	1	B;B	0.27316	0.175;0.071	B;B	0.37304	0.246;0.107	T	0.07046	-1.0793	10	0.10636	T	0.68	-7.146	15.1331	0.72542	1.0:0.0:0.0:0.0	.	708;718	B4DMC0;Q15029	.;U5S1_HUMAN	L	718;708;683	ENSP00000392094:F718L;ENSP00000385873:F683L	ENSP00000262414:F708L	F	-	1	0	EFTUD2	40287557	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.097000	0.94193	2.178000	0.69098	0.533000	0.62120	TTC	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448672.1		-	ENST00000426333.2	Missense_Mutation	SNP	17 : 42932031 - 42932031 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	378	47
EFS	10278	broad.mit.edu	37	14	23828965	23828965	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23828965G>A	ENST00000216733.3	-	4	1329	c.722C>T	c.(721-723)gCa>gTa	p.A241V	EFS_ENST00000351354.3_Missense_Mutation_p.A148V|EFS_ENST00000429593.2_Intron	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	241	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		CTCCCCGTCTGCCAGCAGTTC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	58	55			NA	NA	14		NA											NA				23828965		2203	4298	6501	SO:0001583	missense			AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842	NA	10278		Cas scaffolding proteins	16898	protein-coding gene	gene with protein product	Cas scaffolding protein family member 3	609906			NA	9349509	Standard		NM_005864	NA	Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.722C>T	14.37:g.23828965G>A	ENSP00000216733:p.Ala241Val	NA	B2RAJ7|O43282	37	CCDS9595.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.967102	0.34754	.	.	ENSG00000100842	ENST00000216733;ENST00000351354	T;T	0.58940	0.3;0.93	4.62	0.251	0.15540	.	1.158660	0.06436	N	0.724990	T	0.45135	0.1327	L	0.44542	1.39	0.09310	N	1	B;B	0.31548	0.328;0.043	B;B	0.30495	0.116;0.025	T	0.32955	-0.9887	10	0.34782	T	0.22	0.304	3.6496	0.08198	0.0898:0.1478:0.4939:0.2685	.	148;241	O43281-2;O43281	.;EFS_HUMAN	V	241;148	ENSP00000216733:A241V;ENSP00000340607:A148V	ENSP00000216733:A241V	A	-	2	0	EFS	22898805	0.014000	0.17966	0.011000	0.14972	0.929000	0.56500	0.208000	0.17415	0.156000	0.19299	0.563000	0.77884	GCA	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071770.2		-	ENST00000216733.3	Missense_Mutation	SNP	14 : 23828965 - 23828965 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	652	135
HMG20A	10363	broad.mit.edu	37	15	77769918	77769918	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77769918C>T	ENST00000381714.3	+	8	1065	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	HMG20A_ENST00000336216.4_Missense_Mutation_p.R213W	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	213					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GGTAAAGGAACGGTCTGTTTT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	82	82			NA	NA	15		NA											NA				77769918		2196	4294	6490	SO:0001583	missense			AF146222	CCDS10295.1	15q24	2011-07-01	2011-04-05		ENSG00000140382	ENSG00000140382	10363	10363		High mobility group / Non-canonical	5001	protein-coding gene	gene with protein product	HMG box domain containing 1	605534	high-mobility group 20A		NA	10773667	Standard	NM_018200	NM_018200	NA	Approved	HMGX1, FLJ10739, HMGXB1	uc002bcr.3	Q9NP66	OTTHUMG00000143729	ENST00000381714.3:c.637C>T	15.37:g.77769918C>T	ENSP00000371133:p.Arg213Trp	NA	A6NHY3|D3DW78|Q53G31|Q9NSF6	37	CCDS10295.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446283	0.63178	.	.	ENSG00000140382	ENST00000336216;ENST00000381714	T;T	0.69435	-0.4;-0.4	6.04	3.99	0.46301	.	0.000000	0.85682	D	0.000000	T	0.73753	0.3627	L	0.60455	1.87	0.58432	D	0.999999	D	0.71674	0.998	P	0.60286	0.872	T	0.73263	-0.4038	10	0.37606	T	0.19	-15.2639	12.498	0.55940	0.561:0.439:0.0:0.0	.	213	Q9NP66	HM20A_HUMAN	W	213	ENSP00000336856:R213W;ENSP00000371133:R213W	ENSP00000336856:R213W	R	+	1	2	HMG20A	75556973	1.000000	0.71417	0.908000	0.35775	0.993000	0.82548	3.834000	0.55798	1.525000	0.49052	0.563000	0.77884	CGG	HMG20A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419512.2		+	ENST00000381714.3	Missense_Mutation	SNP	15 : 77769918 - 77769918 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	210	10
GUCY2C	2984	broad.mit.edu	37	12	14805932	14805932	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:14805932C>A	ENST00000261170.3	-	13	1623	c.1487G>T	c.(1486-1488)aGa>aTa	p.R496I		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	496	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TGTATCTCGTCTTTTGTCATC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													322	253	277			NA	NA	12		NA											NA				14805932		2203	4300	6503	SO:0001583	missense				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019	2984	2984			4688	protein-coding gene	gene with protein product		601330		GUC2C	NA	8661067	Standard		NM_004963	NA	Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1487G>T	12.37:g.14805932C>A	ENSP00000261170:p.Arg496Ile	NA	B2RMY6	37	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141560	0.77775	.	.	ENSG00000070019	ENST00000261170	D	0.81739	-1.53	5.18	4.29	0.51040	Protein kinase, catalytic domain (1);	0.130033	0.64402	D	0.000001	T	0.80613	0.4656	L	0.47716	1.5	0.58432	D	0.999999	P	0.49307	0.922	P	0.50896	0.653	T	0.79485	-0.1784	10	0.38643	T	0.18	.	13.4927	0.61405	0.0:0.9232:0.0:0.0768	.	496	P25092	GUC2C_HUMAN	I	496	ENSP00000261170:R496I	ENSP00000261170:R496I	R	-	2	0	GUCY2C	14697199	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	3.709000	0.54853	1.295000	0.44724	0.655000	0.94253	AGA	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400835.1		-	ENST00000261170.3	Missense_Mutation	SNP	12 : 14805932 - 14805932 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	988	223
SCAMP5	192683	broad.mit.edu	37	15	75309056	75309056	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75309056G>A	ENST00000361900.6	+	5	466	c.259G>A	c.(259-261)Gtc>Atc	p.V87I	SCAMP5_ENST00000565923.1_3'UTR|SCAMP5_ENST00000425597.3_Missense_Mutation_p.V87I|SCAMP5_ENST00000562212.1_Missense_Mutation_p.V87I|SCAMP5_ENST00000545456.1_Intron	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	87					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						CTGCTCCTACGTCTGCTGGTT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	125	125			NA	NA	15		NA											NA				75309056		2135	4236	6371	SO:0001583	missense			AL833230	CCDS45306.1	15q24.2	2014-05-20			ENSG00000198794	ENSG00000198794	192683	192683		Secretory carrier membrane proteins	30386	protein-coding gene	gene with protein product		613766			NA	12477932	Standard	NM_138967	NM_001178111	NA	Approved	MGC24969	uc002azk.2	Q8TAC9	OTTHUMG00000172704	ENST00000361900.6:c.259G>A	15.37:g.75309056G>A	ENSP00000355387:p.Val87Ile	NA	B3KPJ7|B7Z762|D3DW71|Q8N3M4	37	CCDS45306.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864774	0.91511	.	.	ENSG00000198794	ENST00000361900;ENST00000425597	T;T	0.18502	2.21;2.21	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.38134	0.1029	L	0.55103	1.725	0.80722	D	1	D;P	0.76494	0.999;0.956	D;P	0.76071	0.987;0.6	T	0.08932	-1.0698	10	0.52906	T	0.07	-7.7649	17.294	0.87164	0.0:0.0:1.0:0.0	.	87;87	Q8TAC9-2;Q8TAC9	.;SCAM5_HUMAN	I	87	ENSP00000355387:V87I;ENSP00000406547:V87I	ENSP00000355387:V87I	V	+	1	0	SCAMP5	73096109	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.841000	0.86834	2.391000	0.81399	0.561000	0.74099	GTC	SCAMP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000420015.2		+	ENST00000361900.6	Missense_Mutation	SNP	15 : 75309056 - 75309056 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	551	93
MTMR9	66036	broad.mit.edu	37	8	11163894	11163894	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11163894C>T	ENST00000526292.1	+	5	828	c.532C>T	c.(532-534)Cga>Tga	p.R178*	MTMR9_ENST00000221086.3_Nonsense_Mutation_p.R263*			Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	263	Myotubularin phosphatase.					cytoplasm	phosphatase activity|protein binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		TCAGTGGAGGCGAATTCATAA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	66	71			NA	NA	8		NA											NA				11163894		2203	4300	6503	SO:0001587	stop_gained			AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643	66036	66036		Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins	14596	protein-coding gene	gene with protein product		606260	myotubularin related protein 8	C8orf9, MTMR8	NA	11472061, 11896452, 12890864	Standard	NM_015458	NM_015458	NA	Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000526292.1:c.532C>T	8.37:g.11163894C>T	ENSP00000433239:p.Arg178*	NA	Q52LU3|Q8WW11|Q96QG6|Q9NX50	37		.	.	.	.	.	.	.	.	.	.	C	39	7.287206	0.98189	.	.	ENSG00000104643	ENST00000221086;ENST00000526292	.	.	.	5.67	4.78	0.61160	.	0.046380	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	13.4248	0.61020	0.3:0.7:0.0:0.0	.	.	.	.	X	263;178	.	ENSP00000221086:R263X	R	+	1	2	MTMR9	11201304	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	1.521000	0.35910	1.362000	0.46000	0.557000	0.71058	CGA	MTMR9-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000383639.1		+	ENST00000526292.1	Nonsense_Mutation	SNP	8 : 11163894 - 11163894 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	260	11
FCAMR	83953	broad.mit.edu	37	1	207131926	207131926	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207131926G>A	ENST00000324852.4	-	8	2143	c.1669C>T	c.(1669-1671)Ctc>Ttc	p.L557F	FCAMR_ENST00000486178.1_5'UTR|FCAMR_ENST00000450945.2_3'UTR|FCAMR_ENST00000400962.3_3'UTR	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	512						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						TCATCCTGGAGCATCTTTCTT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(199;1883 2142 16966 44409 45154)							NA				0													107	98	101			NA	NA	1		NA											NA				207131926		692	1591	2283	SO:0001583	missense			AF354295	CCDS41460.1, CCDS53468.1	1q32.1	2013-01-14			ENSG00000162897	ENSG00000162897	83953	83953		CD molecules, Immunoglobulin superfamily / V-set domain containing	24692	protein-coding gene	gene with protein product		605484			NA	11779189	Standard	NM_032029	NM_001122979	NA	Approved	FKSG87, FCA/MR, CD351	uc001hfa.4	Q8WWV6	OTTHUMG00000036579	ENST00000324852.4:c.1669C>T	1.37:g.207131926G>A	ENSP00000316491:p.Leu557Phe	NA	Q32M82|Q8WWV5|Q96SA2	37	CCDS53468.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.349753	0.41599	.	.	ENSG00000162897	ENST00000324852;ENST00000367087	T	0.07327	3.2	4.73	-1.11	0.09840	.	0.717863	0.11432	N	0.564723	T	0.05135	0.0137	L	0.38838	1.175	0.09310	N	0.999999	P;B	0.36010	0.532;0.21	B;B	0.32342	0.144;0.088	T	0.33650	-0.9860	10	0.54805	T	0.06	-3.8209	1.4804	0.02435	0.1754:0.1378:0.4057:0.2811	.	532;512	D2KTA8;Q8WWV6	.;FCAMR_HUMAN	F	557;515	ENSP00000316491:L557F	ENSP00000316491:L557F	L	-	1	0	FCAMR	205198549	0.000000	0.05858	0.000000	0.03702	0.433000	0.31745	-1.637000	0.02015	-0.069000	0.12931	-0.314000	0.08810	CTC	FCAMR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088969.2		-	ENST00000324852.4	Missense_Mutation	SNP	1 : 207131926 - 207131926 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	550	122
ZMYND15	84225	broad.mit.edu	37	17	4643940	4643940	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4643940G>T	ENST00000433935.1	+	2	154	c.97G>T	c.(97-99)Ggg>Tgg	p.G33W	ZMYND15_ENST00000573751.2_Missense_Mutation_p.G33W|ZMYND15_ENST00000269289.6_Missense_Mutation_p.G33W|ZMYND15_ENST00000592813.1_Missense_Mutation_p.G33W	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	33							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						TGGAGCTGTAGGGACTAGCCT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	74	75			NA	NA	17		NA											NA				4643940		2203	4300	6503	SO:0001583	missense			AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497	84225	84225		Zinc fingers, MYND-type	20997	protein-coding gene	gene with protein product		614312			NA	11230166	Standard	NM_032265	NM_001136046	NA	Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.97G>T	17.37:g.4643940G>T	ENSP00000391742:p.Gly33Trp	NA		37	CCDS45584.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274691	0.40194	.	.	ENSG00000141497	ENST00000433935;ENST00000269289	T;T	0.48201	0.86;0.82	5.28	3.27	0.37495	.	0.238103	0.29900	N	0.010903	T	0.46171	0.1379	N	0.24115	0.695	0.09310	N	1	D;D	0.69078	0.997;0.994	P;P	0.60117	0.863;0.869	T	0.26883	-1.0090	10	0.87932	D	0	-9.0032	7.5421	0.27744	0.0882:0.1649:0.7469:0.0	.	33;33	B4DXY5;Q9H091	.;ZMY15_HUMAN	W	33	ENSP00000391742:G33W;ENSP00000269289:G33W	ENSP00000269289:G33W	G	+	1	0	ZMYND15	4590689	0.992000	0.36948	0.003000	0.11579	0.785000	0.44390	2.762000	0.47597	0.788000	0.33755	0.655000	0.94253	GGG	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000439580.1		+	ENST00000433935.1	Missense_Mutation	SNP	17 : 4643940 - 4643940 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	252	13
BAALC	79870	broad.mit.edu	37	8	104225273	104225273	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104225273G>A	ENST00000309982.5	+	2	475	c.287G>A	c.(286-288)gGc>gAc	p.G96D	BAALC_ENST00000297574.6_Missense_Mutation_p.G131D|BAALC_ENST00000438105.2_Intron|RP11-318M2.2_ENST00000523614.2_RNA|RP11-318M2.2_ENST00000499522.2_RNA	NM_024812.2	NP_079088.1	Q8WXS3	BAALC_HUMAN	brain and acute leukemia, cytoplasmic	131						centrosome|membrane|nucleus				kidney(1)|large_intestine(3)|lung(3)	7			OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)			CTCAGCTCAGGCCCTCTGACC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	106	108			NA	NA	8		NA											NA				104225273		2203	4300	6503	SO:0001583	missense			AF363578	CCDS6297.1, CCDS47906.1	8q22.3	2008-07-29			ENSG00000164929	ENSG00000164929	79870	79870			14333	protein-coding gene	gene with protein product		606602			NA	11707601	Standard		NM_024812	NA	Approved		uc003yld.3	Q8WXS3	OTTHUMG00000164782	ENST00000309982.5:c.287G>A	8.37:g.104225273G>A	ENSP00000312457:p.Gly96Asp	NA	Q8WTP6|Q8WXS0|Q8WXS1|Q8WXS2|Q9HA93	37	CCDS6297.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225051	0.79576	.	.	ENSG00000164929	ENST00000309982;ENST00000297574	T;T	0.56275	0.59;0.47	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.72170	0.3427	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.976;0.981	T	0.75777	-0.3198	9	0.87932	D	0	-15.2011	14.6078	0.68493	0.0:0.0:1.0:0.0	.	131;96	Q8WXS3;Q8WXS3-2	BAALC_HUMAN;.	D	96;131	ENSP00000312457:G96D;ENSP00000297574:G131D	ENSP00000297574:G131D	G	+	2	0	BAALC	104294449	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.291000	0.51764	2.578000	0.87016	0.655000	0.94253	GGC	BAALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380255.1		+	ENST00000309982.5	Missense_Mutation	SNP	8 : 104225273 - 104225273 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	656	124
ADAM28	10863	broad.mit.edu	37	8	24181515	24181515	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24181515A>C	ENST00000265769.4	+	9	999	c.889A>C	c.(889-891)Aca>Cca	p.T297P	RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000540823.1_Splice_Site_p.T64P|ADAM28_ENST00000397649.3_Splice_Site_p.T44P|ADAM28_ENST00000437154.2_Splice_Site_p.T297P	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	297	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TCAGTTAATCACGTATGTACA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(193;488 2149 22258 34798 40734)							NA				0													100	101	100			NA	NA	8		NA											NA				24181515		2202	4298	6500	SO:0001630	splice_region_variant			AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980	10863	10863		ADAM metallopeptidase domain containing	206	protein-coding gene	gene with protein product		606188	a disintegrin and metalloproteinase domain 28		NA		Standard	NM_021778	XM_005273378	NA	Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.890+1A>C	8.37:g.24181515A>C		NA	Q9Y339|Q9Y3S0	37	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	A	17.55	3.417484	0.62622	.	.	ENSG00000042980	ENST00000265769;ENST00000397649;ENST00000540823;ENST00000437154	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	5.17	4.0	0.46444	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	T	0.45895	0.1365	H	0.96805	3.885	0.58432	D	0.99999	D;D;D	0.69078	0.99;0.997;0.987	D;D;P	0.68039	0.93;0.955;0.886	T	0.52403	-0.8580	9	0.87932	D	0	.	7.4466	0.27215	0.758:0.0:0.0:0.242	.	64;297;297	B4DDY3;Q9UKQ2;Q9UKQ2-2	.;ADA28_HUMAN;.	P	297;44;64;297	ENSP00000265769:T297P;ENSP00000380770:T44P;ENSP00000443743:T64P;ENSP00000393699:T297P	ENSP00000265769:T297P	T	+	1	0	ADAM28	24237460	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	3.571000	0.53841	0.780000	0.33566	0.528000	0.53228	ACA	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375441.2	Missense_Mutation	+	ENST00000265769.4	Splice_Site	SNP	8 : 24181515 - 24181515 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	57
FAM214A	56204	broad.mit.edu	37	15	52901701	52901701	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52901701C>T	ENST00000261844.7	-	6	1562	c.1410G>A	c.(1408-1410)gaG>gaA	p.E470E	FAM214A_ENST00000546305.2_Silent_p.E477E	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	470											NA						AAGGATTAGTCTCTCCAACAG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	100	101			NA	NA	15		NA											NA				52901701		1865	4091	5956	SO:0001819	synonymous_variant			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346	56204	56204			25609	protein-coding gene	gene with protein product			KIAA1370	KIAA1370	NA	10718198	Standard	NM_019600	XM_005254547	NA	Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.1410G>A	15.37:g.52901701C>T		NA	A8KA52|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	37	CCDS45263.1																																																																																			FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419914.1		-	ENST00000261844.7	Silent	SNP	15 : 52901701 - 52901701 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	512	95
COPS6	10980	broad.mit.edu	37	7	99688878	99688878	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99688878G>T	ENST00000303904.3	+	8	704	c.667G>T	c.(667-669)Gca>Tca	p.A223S	COPS6_ENST00000418625.1_Missense_Mutation_p.A222S	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	223	Interaction with Vpr.				cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			ACACCTGATAGCACAGCACAG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													212	196	201			NA	NA	7		NA											NA				99688878		2203	4300	6503	SO:0001583	missense			BC002520	CCDS5682.1	7q22.1	2013-03-14	2013-03-14		ENSG00000168090	ENSG00000168090	10980	10980			21749	protein-coding gene	gene with protein product	COP9 subunit 6 (MOV34 homolog, 34 kD)	614729	COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis)		NA	12477932	Standard	NM_006833	NM_006833	NA	Approved	MOV34-34KD, CSN6	uc003usu.3	Q7L5N1	OTTHUMG00000154632	ENST00000303904.3:c.667G>T	7.37:g.99688878G>T	ENSP00000304102:p.Ala223Ser	NA	A4D2A3|O15387	37	CCDS5682.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657380	0.67586	.	.	ENSG00000168090	ENST00000303904;ENST00000418625	T;T	0.46451	0.87;0.87	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.44540	0.1298	L	0.56124	1.755	0.80722	D	1	P	0.41498	0.752	P	0.46452	0.517	T	0.19353	-1.0308	10	0.10377	T	0.69	-24.5327	15.6886	0.77430	0.0:0.0:1.0:0.0	.	223	Q7L5N1	CSN6_HUMAN	S	223;222	ENSP00000304102:A223S;ENSP00000400617:A222S	ENSP00000304102:A223S	A	+	1	0	COPS6	99526814	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.430000	0.90283	2.556000	0.86216	0.561000	0.74099	GCA	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336412.3		+	ENST00000303904.3	Missense_Mutation	SNP	7 : 99688878 - 99688878 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1399	228
INPP5D	3635	broad.mit.edu	37	2	234085994	234085994	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234085994T>C	ENST00000359570.5	+	20	2035		c.e20+2		INPP5D_ENST00000538935.1_Splice_Site|INPP5D_ENST00000450745.1_Splice_Site|INPP5D_ENST00000455936.2_Splice_Site			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	NA					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AGTCTTATGGTGAGTTCAAAC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(82;1215 1426 16163 20348 41018)							NA				0													135	134	134			NA	NA	2		NA											NA				234085994		2028	4194	6222	SO:0001630	splice_region_variant			U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918	3635	3635		SH2 domain containing	6079	protein-coding gene	gene with protein product		601582	inositol polyphosphate-5-phosphatase, 145kD		NA	8643691, 8874179	Standard	NM_001017915	NM_001017915	NA	Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.2035+2T>C	2.37:g.234085994T>C		NA	O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	37		.	.	.	.	.	.	.	.	.	.	T	15.64	2.894186	0.52121	.	.	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9446	0.71020	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	INPP5D	233750733	1.000000	0.71417	0.996000	0.52242	0.414000	0.31173	7.652000	0.83633	1.930000	0.55929	0.374000	0.22700	.	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding		Intron	+	ENST00000359570.5	Splice_Site	SNP	2 : 234085994 - 234085994 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	514	123
SPNS2	124976	broad.mit.edu	37	17	4436305	4436305	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4436305G>A	ENST00000329078.3	+	7	1179	c.969G>A	c.(967-969)tcG>tcA	p.S323S		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	323					lipid transport|transmembrane transport	integral to membrane				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						TGGCCACGTCGGCTGTCTCCT	0.667		NA											G	1	5e-04	NA	0.0028	2184	NA	0.9968	,	,	NA	0.0013	NA	NA	NA	0.002	0.4015	EXOME	NA	NA	6e-04	SNP								NA				0								G		1,3135		0,1,1567	41	42	41		969	-3.9	1	17		41	0,7162		0,0,3581	no	coding-synonymous	SPNS2	NM_001124758.1		0,1,5148	AA,AG,GG	NA	0.0,0.0319,0.0097		323/550	4436305	1,10297	1568	3581	5149	SO:0001819	synonymous_variant			BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018	124976	124976			26992	protein-coding gene	gene with protein product		612584			NA	12815463	Standard		NM_001124758	NA	Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.969G>A	17.37:g.4436305G>A		NA	B9A1T3	37	CCDS42237.1																																																																																			SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438802.1		+	ENST00000329078.3	Silent	SNP	17 : 4436305 - 4436305 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	400	67
ZNF24	7572	broad.mit.edu	37	18	32920370	32920370	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:32920370C>A	ENST00000589881.1	-	1	248	c.245G>T	c.(244-246)aGg>aTg	p.R82M	ZNF24_ENST00000399061.3_Missense_Mutation_p.R82M|ZNF24_ENST00000261332.6_Missense_Mutation_p.R82M			P17028	ZNF24_HUMAN	zinc finger protein 24	82	SCAN box.				myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						CGTCTCTGGCCTGAGCCACAG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(42;769 913 8916 19469 46270)							NA				0													122	125	124			NA	NA	18		NA											NA				32920370		2203	4300	6503	SO:0001583	missense			AF016052	CCDS11912.1	18q12	2013-01-09	2006-05-10		ENSG00000172466	ENSG00000172466	7572	7572		-, Zinc fingers, C2H2-type	13032	protein-coding gene	gene with protein product		194534	zinc finger protein 24 (KOX 17)	ZNF191	NA		Standard	NM_006965	NM_006965	NA	Approved	ZSCAN3, Zfp191, KOX17	uc002kys.2	P17028	OTTHUMG00000132565	ENST00000589881.1:c.245G>T	18.37:g.32920370C>A	ENSP00000467655:p.Arg82Met	NA	O14754|Q53YE4|Q6ICR5|Q8IZN4	37		.	.	.	.	.	.	.	.	.	.	C	19.30	3.800801	0.70567	.	.	ENSG00000172466	ENST00000261332;ENST00000399061	T;T	0.06371	3.31;3.31	4.59	4.59	0.56863	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.56097	D	0.000028	T	0.27027	0.0662	M	0.92268	3.29	0.36671	D	0.878472	D;D	0.76494	0.999;0.985	D;P	0.64237	0.923;0.764	T	0.26710	-1.0095	10	0.56958	D	0.05	.	8.8053	0.34934	0.0:0.9001:0.0:0.0999	.	82;82	P17028-2;P17028	.;ZNF24_HUMAN	M	82	ENSP00000261332:R82M;ENSP00000382015:R82M	ENSP00000261332:R82M	R	-	2	0	ZNF24	31174368	0.997000	0.39634	1.000000	0.80357	0.978000	0.69477	1.848000	0.39309	2.563000	0.86464	0.650000	0.86243	AGG	ZNF24-003	KNOWN	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000442598.2		-	ENST00000589881.1	Missense_Mutation	SNP	18 : 32920370 - 32920370 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1066	101
NRDE2	55051	broad.mit.edu	37	14	90754819	90754819	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90754819C>A	ENST00000354366.3	-	11	3132	c.2900G>T	c.(2899-2901)aGc>aTc	p.S967I	NRDE2_ENST00000357904.3_Missense_Mutation_p.S736I	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing	NA											NA						TCTCAGCAGGCTCGTGTGCAT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	87	88			NA	NA	14		NA											NA				90754819		2203	4300	6503	SO:0001583	missense			AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720	55051	55051			20186	protein-coding gene	gene with protein product			chromosome 14 open reading frame 102	C14orf102	NA		Standard	NM_017970	NM_017970	NA	Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.2900G>T	14.37:g.90754819C>A	ENSP00000346335:p.Ser967Ile	NA		37	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	C	5.808	0.333286	0.11013	.	.	ENSG00000119720	ENST00000354366;ENST00000357904	T;T	0.34275	1.37;1.37	4.85	1.74	0.24563	.	0.317760	0.34338	N	0.004059	T	0.25306	0.0615	M	0.63428	1.95	0.27043	N	0.96398	B;P	0.39282	0.363;0.666	B;B	0.30495	0.037;0.116	T	0.14727	-1.0462	10	0.38643	T	0.18	-10.1793	4.2529	0.10703	0.0:0.495:0.1868:0.3183	.	736;967	E9PBK4;Q9H7Z3	.;CN102_HUMAN	I	967;736	ENSP00000346335:S967I;ENSP00000350579:S736I	ENSP00000346335:S967I	S	-	2	0	C14orf102	89824572	0.383000	0.25156	0.131000	0.22000	0.098000	0.18820	1.294000	0.33365	0.624000	0.30286	0.655000	0.94253	AGC	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411264.1		-	ENST00000354366.3	Missense_Mutation	SNP	14 : 90754819 - 90754819 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	409	75
ADAMTS8	11095	broad.mit.edu	37	11	130288972	130288972	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130288972G>A	ENST00000257359.6	-	2	1642	c.936C>T	c.(934-936)gaC>gaT	p.D312D		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	312	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GGATGGCCGTGTCGTAGTGCT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	104	101			NA	NA	11		NA											NA				130288972		2087	4212	6299	SO:0001819	synonymous_variant			AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917	11095	11095		ADAM metallopeptidases with thrombospondin type 1 motif	224	protein-coding gene	gene with protein product		605175	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8		NA	10438512	Standard	NM_007037	NM_007037	NA	Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.936C>T	11.37:g.130288972G>A		NA	Q9NZS0	37	CCDS41732.1																																																																																			ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385636.1		-	ENST00000257359.6	Silent	SNP	11 : 130288972 - 130288972 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1061	206
FREM1	158326	broad.mit.edu	37	9	14841558	14841558	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14841558C>A	ENST00000380880.3	-	10	2551	c.1768G>T	c.(1768-1770)Gat>Tat	p.D590Y	FREM1_ENST00000380881.4_Missense_Mutation_p.D591Y|FREM1_ENST00000422223.2_Missense_Mutation_p.D590Y			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	590					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTAAACAAATCCCTCTGAAGG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	126	129			NA	NA	9		NA											NA				14841558		1851	4098	5949	SO:0001583	missense			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946	158326	158326			23399	protein-coding gene	gene with protein product		608944	chromosome 9 open reading frame 154	C9orf154	NA	12838346, 15345741	Standard	NM_144966	NM_144966	NA	Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1768G>T	9.37:g.14841558C>A	ENSP00000370262:p.Asp590Tyr	NA	Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	37	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733208	0.89482	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.54866	0.55;0.55;0.55	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.81479	0.4831	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84940	0.0865	10	0.87932	D	0	-17.8822	20.5568	0.99304	0.0:1.0:0.0:0.0	.	590	Q5H8C1	FREM1_HUMAN	Y	591;590;590	ENSP00000370263:D591Y;ENSP00000412940:D590Y;ENSP00000370262:D590Y	ENSP00000370257:D593Y	D	-	1	0	FREM1	14831558	1.000000	0.71417	0.767000	0.31495	0.938000	0.57974	7.417000	0.80156	2.861000	0.98227	0.655000	0.94253	GAT	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339474.2		-	ENST00000380880.3	Missense_Mutation	SNP	9 : 14841558 - 14841558 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	597	67
ARMC3	219681	broad.mit.edu	37	10	23321797	23321797	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23321797G>A	ENST00000298032.5	+	18	2338	c.2254G>A	c.(2254-2256)Gca>Aca	p.A752T	ARMC3_ENST00000409983.3_Missense_Mutation_p.A745T|ARMC3_ENST00000376528.4_Missense_Mutation_p.A489T	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	752							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CAGGTATGTAGCAGAAAAAAT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	59	60			NA	NA	10		NA											NA				23321797		2203	4300	6503	SO:0001583	missense			AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309	219681	219681		Armadillo repeat containing	30964	protein-coding gene	gene with protein product	cancer/testis antigen 81	611226			NA		Standard	NM_173081	XM_005252380	NA	Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.2254G>A	10.37:g.23321797G>A	ENSP00000298032:p.Ala752Thr	NA	A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	37	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671896	0.47781	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376528	T;T;T	0.49139	0.79;0.8;2.02	5.37	2.33	0.28932	.	0.645585	0.17454	N	0.173689	T	0.52901	0.1763	L	0.58101	1.795	0.40605	D	0.981613	D;D	0.55605	0.965;0.972	P;P	0.54100	0.487;0.742	T	0.55147	-0.8186	10	0.66056	D	0.02	-13.7438	8.5412	0.33393	0.1382:0.0:0.7369:0.125	.	745;752	Q5W041-4;Q5W041	.;ARMC3_HUMAN	T	752;745;489	ENSP00000298032:A752T;ENSP00000386943:A745T;ENSP00000365711:A489T	ENSP00000298032:A752T	A	+	1	0	ARMC3	23361803	1.000000	0.71417	1.000000	0.80357	0.365000	0.29674	2.981000	0.49329	0.747000	0.32809	-0.266000	0.10368	GCA	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047197.2		+	ENST00000298032.5	Missense_Mutation	SNP	10 : 23321797 - 23321797 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	184	32
DIP2B	57609	broad.mit.edu	37	12	51072569	51072569	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51072569G>A	ENST00000301180.5	+	8	1058	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	342						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TCTTGAATCTGCCCTGCAGCG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	70	73			NA	NA	12		NA											NA				51072569		2203	4300	6503	SO:0001583	missense			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084	57609	57609			29284	protein-coding gene	gene with protein product		611379			NA		Standard	NM_173602	XM_005269044	NA	Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.1024G>A	12.37:g.51072569G>A	ENSP00000301180:p.Ala342Thr	NA	Q6B011|Q8N1L5|Q8NB38	37	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360615	0.82353	.	.	ENSG00000066084	ENST00000455310;ENST00000301180	T	0.11277	2.79	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.30947	0.0781	M	0.64080	1.96	0.80722	D	1	B;D	0.89917	0.318;1.0	B;D	0.87578	0.176;0.998	T	0.00844	-1.1543	10	0.33141	T	0.24	-13.636	18.2696	0.90064	0.0:0.0:1.0:0.0	.	342;352	Q9P265;E9PHD6	DIP2B_HUMAN;.	T	352;342	ENSP00000301180:A342T	ENSP00000301180:A342T	A	+	1	0	DIP2B	49358836	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.647000	0.83462	2.619000	0.88677	0.467000	0.42956	GCC	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404243.1		+	ENST00000301180.5	Missense_Mutation	SNP	12 : 51072569 - 51072569 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	273	49
PIK3R3	8503	broad.mit.edu	37	1	46527716	46527716	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46527716C>T	ENST00000262741.5	-	6	1338	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	PIK3R3_ENST00000420542.1_Missense_Mutation_p.E217K|PIK3R3_ENST00000340332.6_Missense_Mutation_p.E181K|PIK3R3_ENST00000354242.4_Missense_Mutation_p.E217K|PIK3R3_ENST00000423209.1_Missense_Mutation_p.E217K|PIK3R3_ENST00000540385.1_Missense_Mutation_p.E263K|PIK3R3_ENST00000372006.1_Missense_Mutation_p.E217K	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	217					insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					TTAAAAGCTTCTATTGCAGTC	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	127	129			NA	NA	1		NA											NA				46527716		2203	4300	6503	SO:0001583	missense			BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461	8503	8503		SH2 domain containing	8981	protein-coding gene	gene with protein product		606076			NA	9524259	Standard	NM_003629	NM_003629	NA	Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.649G>A	1.37:g.46527716C>T	ENSP00000262741:p.Glu217Lys	NA	B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	37	CCDS529.1	.	.	.	.	.	.	.	.	.	.	C	32	5.110001	0.94292	.	.	ENSG00000117461	ENST00000372006;ENST00000262741;ENST00000420542;ENST00000354242;ENST00000340332;ENST00000540385;ENST00000423209	T;T;T;D;D;T;D	0.86627	-1.4;-1.4;-1.4;-1.59;-2.15;-1.37;-1.59	5.86	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.92344	0.7571	M	0.86953	2.85	0.80722	D	1	P;D;P;P	0.53619	0.803;0.961;0.897;0.507	P;P;P;B	0.54100	0.612;0.742;0.686;0.296	D	0.93558	0.6892	10	0.87932	D	0	.	15.1844	0.72989	0.0:0.9324:0.0:0.0676	.	263;250;217;217	F6TDL0;Q7Z3W2;Q92569-2;Q92569	.;.;.;P55G_HUMAN	K	217;217;217;217;181;263;217	ENSP00000361075:E217K;ENSP00000262741:E217K;ENSP00000412546:E217K;ENSP00000346188:E217K;ENSP00000342484:E181K;ENSP00000439913:E263K;ENSP00000391431:E217K	ENSP00000262741:E217K	E	-	1	0	PIK3R3	46300303	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.818000	0.86416	1.481000	0.48307	0.563000	0.77884	GAA	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022171.1		-	ENST00000262741.5	Missense_Mutation	SNP	1 : 46527716 - 46527716 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	419	91
CFB	629	broad.mit.edu	37	6	31914967	31914967	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31914967G>A	ENST00000456570.1	+	15	2043	c.1988G>A	c.(1987-1989)gGa>gAa	p.G663E	CFB_ENST00000556679.1_Missense_Mutation_p.G663E|CFB_ENST00000477310.1_Missense_Mutation_p.G512E|CFB_ENST00000425368.2_Missense_Mutation_p.G161E			P00751	CFAB_HUMAN	complement factor B	161	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TGTGACAACGGAGGTGAGAAG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	63	62			NA	NA	6		NA											NA				31914967		1511	2709	4220	SO:0001583	missense			L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	629	629	3.4.21.47	Complement system	1037	protein-coding gene	gene with protein product		138470	B-factor, properdin	BFD, BF	NA		Standard	NM_001710	NM_001710	NA	Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000456570.1:c.1988G>A	6.37:g.31914967G>A	ENSP00000410815:p.Gly663Glu	NA	B0QZQ6|O15006|Q29944|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	37		.	.	.	.	.	.	.	.	.	.	G	17.94	3.511718	0.64522	.	.	ENSG00000243649;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000556679;ENST00000425368;ENST00000456570;ENST00000477310	D;T;D;T	0.81579	-1.51;-1.4;-1.51;-1.47	4.6	4.6	0.57074	.	0.000000	0.47455	D	0.000239	D	0.83505	0.5269	L	0.43646	1.37	0.43678	D	0.996116	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.997;1.0	D	0.85611	0.1258	10	0.72032	D	0.01	-13.6748	16.3637	0.83296	0.0:0.0:1.0:0.0	.	663;161;161	B4E1Z4;P00751;P00751-2	.;CFAB_HUMAN;.	E	663;161;663;512	ENSP00000451848:G663E;ENSP00000416561:G161E;ENSP00000410815:G663E;ENSP00000418996:G512E	ENSP00000416561:G161E	G	+	2	0	CFB;XXbac-BPG116M5.17	32022946	1.000000	0.71417	1.000000	0.80357	0.442000	0.32017	5.102000	0.64572	2.404000	0.81709	0.655000	0.94253	GGA	CFB-001	NOVEL	basic|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000356427.1		+	ENST00000456570.1	Missense_Mutation	SNP	6 : 31914967 - 31914967 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	400	74
WIZ	58525	broad.mit.edu	37	19	15535824	15535824	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15535824C>A	ENST00000599910.2	-	7	2299	c.2151G>T	c.(2149-2151)gaG>gaT	p.E717D	WIZ_ENST00000545156.1_Missense_Mutation_p.E714D|WIZ_ENST00000389282.4_Missense_Mutation_p.E1400D|WIZ_ENST00000599686.3_Missense_Mutation_p.E584D|WIZ_ENST00000263381.7_Missense_Mutation_p.E543D			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	NA						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						GGCCACACAGCTCGCAGCAGG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													7	8	7			NA	NA	19		NA											NA				15535824		2051	4168	6219	SO:0001583	missense			AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451	58525	58525		Zinc fingers, C2H2-type	30917	protein-coding gene	gene with protein product			WIZ zinc finger		NA	9795207, 12226707	Standard	NM_021241	NM_021241	NA	Approved	ZNF803	uc002nbb.4	O95785		ENST00000599910.2:c.2151G>T	19.37:g.15535824C>A	ENSP00000469022:p.Glu717Asp	NA	Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	37		.	.	.	.	.	.	.	.	.	.	C	23.5	4.418217	0.83449	.	.	ENSG00000011451	ENST00000389282;ENST00000263381;ENST00000416927;ENST00000545156	T;T;T	0.29142	1.58;1.58;1.58	5.56	5.56	0.83823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.112944	0.64402	D	0.000013	T	0.45498	0.1345	L	0.40543	1.245	0.46317	D	0.998986	D;P;D	0.89917	1.0;0.829;1.0	D;P;D	0.91635	0.998;0.675;0.999	T	0.31336	-0.9947	10	0.54805	T	0.06	-25.1891	12.4141	0.55483	0.0:0.9189:0.0:0.0811	.	1400;543;584	O95785;O95785-2;B3KVH1	WIZ_HUMAN;.;.	D	1400;543;584;714	ENSP00000373933:E1400D;ENSP00000263381:E543D;ENSP00000445824:E714D	ENSP00000263381:E543D	E	-	3	2	WIZ	15396824	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.037000	0.49775	2.614000	0.88457	0.650000	0.86243	GAG	WIZ-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	NA	protein_coding	OTTHUMT00000461326.2		-	ENST00000599910.2	Missense_Mutation	SNP	19 : 15535824 - 15535824 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	64	10
LMAN1L	79748	broad.mit.edu	37	15	75116790	75116790	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75116790T>C	ENST00000309664.5	+	13	1561	c.1422T>C	c.(1420-1422)acT>acC	p.T474T	RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Silent_p.T462T	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	474						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCATTCAGACTGTAGGCTTCT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	117	118			NA	NA	15		NA											NA				75116790		2197	4295	6492	SO:0001819	synonymous_variant			AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506	79748	79748			6632	protein-coding gene	gene with protein product		609548			NA	11255007	Standard		NM_021819	NA	Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.1422T>C	15.37:g.75116790T>C		NA	Q6UWN2	37	CCDS10270.1																																																																																			LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286397.4		+	ENST00000309664.5	Silent	SNP	15 : 75116790 - 75116790 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	997	177
MYO10	4651	broad.mit.edu	37	5	16694613	16694613	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16694613C>T	ENST00000513610.1	-	27	4121	c.3667G>A	c.(3667-3669)Ggg>Agg	p.G1223R	MYO10_ENST00000274203.9_Missense_Mutation_p.G580R|MYO10_ENST00000515803.1_Missense_Mutation_p.G562R|MYO10_ENST00000427430.2_Missense_Mutation_p.G580R|MYO10_ENST00000505695.1_Missense_Mutation_p.G562R	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1223	PH 1.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	p.G1223R(5)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GAGCCCCCCCCTTTTTTGTGG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				5	Substitution - Missense(5)	endometrium(4)|prostate(1)											81	82	82			NA	NA	5		NA											NA				16694613		1898	4107	6005	SO:0001583	missense			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555	4651	4651		Myosins / Myosin superfamily : Class X, Pleckstrin homology (PH) domain containing	7593	protein-coding gene	gene with protein product		601481			NA	8884266	Standard	NM_012334	NM_012334	NA	Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3667G>A	5.37:g.16694613C>T	ENSP00000421280:p.Gly1223Arg	NA	A7E2D1|O94893|Q9NYM7|Q9P110|Q9P111|Q9UHF6	37	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626178	0.66901	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	T;T;T;T;T	0.04502	3.61;3.61;3.61;3.61;3.61	5.48	5.48	0.80851	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	T	0.28433	0.0703	M	0.87381	2.88	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.04752	-1.0929	9	0.87932	D	0	.	19.3713	0.94488	0.0:1.0:0.0:0.0	.	102;864;1223	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	R	1223;562;580;562;580	ENSP00000421280:G1223R;ENSP00000425051:G562R;ENSP00000274203:G580R;ENSP00000421170:G562R;ENSP00000391106:G580R	ENSP00000274203:G580R	G	-	1	0	MYO10	16747613	1.000000	0.71417	0.355000	0.25773	0.060000	0.15804	7.818000	0.86416	2.575000	0.86900	0.655000	0.94253	GGG	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366167.1		-	ENST00000513610.1	Missense_Mutation	SNP	5 : 16694613 - 16694613 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	618	93
ATP11B	23200	broad.mit.edu	37	3	182615133	182615133	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:182615133G>A	ENST00000323116.5	+	27	3351	c.3091G>A	c.(3091-3093)Gtt>Att	p.V1031I		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	1031					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CAACCATCTCGTTACCTGGGG	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	147	141			NA	NA	3		NA											NA				182615133		2203	4294	6497	SO:0001583	missense			AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063	23200	23200		ATPases / P-type	13553	protein-coding gene	gene with protein product		605869	ATPase, Class VI, type 11B		NA	10231032, 11015572	Standard	NM_014616	NM_014616	NA	Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.3091G>A	3.37:g.182615133G>A	ENSP00000321195:p.Val1031Ile	NA	Q96FN1|Q9UKK7	37	CCDS33896.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.145252|5.145252	0.94603|0.94603	.|.	.|.	ENSG00000058063|ENSG00000058063	ENST00000491699|ENST00000323116	.|T	.|0.39406	.|1.08	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.60170|0.60170	0.2248|0.2248	L|L	0.45744|0.45744	1.44|1.44	0.80722|0.80722	D|D	1|1	.|D;P	.|0.76494	.|0.999;0.755	.|D;B	.|0.75020	.|0.985;0.312	T|T	0.58352|0.58352	-0.7651|-0.7651	5|10	.|0.52906	.|T	.|0.07	.|.	19.663|19.663	0.95879|0.95879	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|605;1031	.|B3KSJ2;Q9Y2G3	.|.;AT11B_HUMAN	H|I	15|1031	.|ENSP00000321195:V1031I	.|ENSP00000321195:V1031I	R|V	+|+	2|1	0|0	ATP11B|ATP11B	184097827|184097827	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	9.348000|9.348000	0.97062|0.97062	2.648000|2.648000	0.89879|0.89879	0.655000|0.655000	0.94253|0.94253	CGT|GTT	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350598.1		+	ENST00000323116.5	Missense_Mutation	SNP	3 : 182615133 - 182615133 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1224	206
ZNF225	7768	broad.mit.edu	37	19	44636716	44636716	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44636716A>C	ENST00000262894.6	+	5	2229	c.1949A>C	c.(1948-1950)aAa>aCa	p.K650T	ZNF225_ENST00000590612.1_Missense_Mutation_p.K650T|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	650					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K650T(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				AGTAGAGAAAAACTACTTCAA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											56	56	56			NA	NA	19		NA											NA				44636716		2162	4281	6443	SO:0001583	missense			AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294	7768	7768		Zinc fingers, C2H2-type, -	13018	protein-coding gene	gene with protein product					NA		Standard		NM_013362	NA	Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.1949A>C	19.37:g.44636716A>C	ENSP00000262894:p.Lys650Thr	NA	A8K8S2|Q53F12|Q9NS46|Q9UID8	37	CCDS46100.1	.	.	.	.	.	.	.	.	.	.	A	12.77	2.036797	0.35893	.	.	ENSG00000256294	ENST00000262894;ENST00000544184	T	0.21191	2.02	1.94	0.649	0.17806	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26702	0.0653	M	0.72576	2.205	0.09310	N	1	B	0.19331	0.035	B	0.32980	0.156	T	0.39961	-0.9588	9	0.72032	D	0.01	.	7.5755	0.27933	0.7293:0.2707:0.0:0.0	.	650	Q9UK10	ZN225_HUMAN	T	650;614	ENSP00000262894:K650T	ENSP00000262894:K650T	K	+	2	0	ZNF225	49328556	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.020000	0.12525	0.079000	0.16929	0.459000	0.35465	AAA	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460581.1		+	ENST00000262894.6	Missense_Mutation	SNP	19 : 44636716 - 44636716 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	217	33
DOCK9	23348	broad.mit.edu	37	13	99515346	99515346	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:99515346A>C	ENST00000376460.1	-	32	3586	c.3506T>G	c.(3505-3507)tTt>tGt	p.F1169C	DOCK9_ENST00000448493.2_Missense_Mutation_p.F1181C|DOCK9_ENST00000339416.2_Missense_Mutation_p.F1170C|DOCK9_ENST00000461998.1_5'UTR|DOCK9_ENST00000442173.1_Missense_Mutation_p.F1169C	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1170					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGCAGACCAAACAGAGGCAG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	46	46			NA	NA	13		NA											NA				99515346		1979	4165	6144	SO:0001583	missense			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387	23348	23348		Pleckstrin homology (PH) domain containing	14132	protein-coding gene	gene with protein product	zizimin1	607325			NA	12172552, 12432077	Standard	NM_015296	NM_015296	NA	Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.3506T>G	13.37:g.99515346A>C	ENSP00000365643:p.Phe1169Cys	NA	Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	37	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.388034	0.82902	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000400220;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	5.04	5.04	0.67666	.	0.050998	0.85682	D	0.000000	T	0.44414	0.1292	M	0.64997	1.995	0.58432	D	0.999999	P;P;D;P;D;D	0.89917	0.933;0.928;1.0;0.515;0.988;0.999	P;P;D;B;P;P	0.85130	0.664;0.541;0.997;0.438;0.887;0.894	T	0.42616	-0.9441	10	0.87932	D	0	.	15.0737	0.72059	1.0:0.0:0.0:0.0	.	1170;1169;1170;1169;1169;1170	A6H8Z6;E9PFM9;A8MWZ5;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;.;DOCK9_HUMAN	C	1169;1170;1170;1170;1169;100;1170;1181;1169	ENSP00000365643:F1169C;ENSP00000341086:F1170C;ENSP00000401958:F1181C;ENSP00000406883:F1169C	ENSP00000341086:F1170C	F	-	2	0	DOCK9	98313347	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	8.905000	0.92613	2.020000	0.59435	0.459000	0.35465	TTT	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045566.1		-	ENST00000376460.1	Missense_Mutation	SNP	13 : 99515346 - 99515346 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	61	16
CD63	967	broad.mit.edu	37	12	56121030	56121030	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56121030G>A	ENST00000550776.1	-	0	297				CD63_ENST00000552692.1_Missense_Mutation_p.P54S|CD63_ENST00000552754.1_Missense_Mutation_p.P31S|CD63_ENST00000257857.4_Missense_Mutation_p.P54S|CD63_ENST00000420846.3_Missense_Mutation_p.P54S|CD63_ENST00000549117.1_Missense_Mutation_p.P54S|CD63_ENST00000546939.1_5'UTR	NM_001257401.1	NP_001244330.1	P08962	CD63_HUMAN	CD63 molecule	NA					platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						ATGACCACTGGCAACAGAGAG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(123;1459 1747 6717 18841 37380)							NA				0													103	103	103			NA	NA	12		NA											NA				56121030		2203	4300	6503	SO:0001623	5_prime_UTR_variant			M58485	CCDS8890.1, CCDS58242.1, CCDS58243.1	12q12-q13	2013-02-14	2006-03-28				NA	967		CD molecules, Tetraspanins	1692	protein-coding gene	gene with protein product		155740	CD63 antigen (melanoma 1 antigen)	MLA1	NA		Standard		NM_001780	NA	Approved	ME491, TSPAN30	uc031qhv.1	P08962		ENST00000550776.1:c.-87C>T	12.37:g.56121030G>A		NA	Q5TZP3|Q9UCG6	37	CCDS58242.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703758	0.88924	.	.	ENSG00000135404	ENST00000420846;ENST00000552692;ENST00000549117;ENST00000257857;ENST00000552754;ENST00000552164;ENST00000551173;ENST00000546457	T;T;T;T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24	5.35	4.46	0.54185	.	0.054955	0.64402	N	0.000001	D	0.86510	0.5950	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;0.975;0.995	D;P;D	0.97110	1.0;0.893;0.951	D	0.87355	0.2340	10	0.56958	D	0.05	.	12.4812	0.55844	0.0829:0.0:0.9171:0.0	.	31;54;54	Q8N6Z9;C9JV86;P08962	.;.;CD63_HUMAN	S	54;54;54;54;31;54;54;54	ENSP00000393502:P54S;ENSP00000449337:P54S;ENSP00000447730:P54S;ENSP00000257857:P54S;ENSP00000446807:P31S;ENSP00000449281:P54S;ENSP00000446752:P54S;ENSP00000450191:P54S	ENSP00000257857:P54S	P	-	1	0	CD63	54407297	1.000000	0.71417	0.996000	0.52242	0.899000	0.52679	4.977000	0.63792	1.593000	0.50029	0.655000	0.94253	CCA	CD63-010	PUTATIVE	alternative_5_UTR|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409489.1		-	ENST00000550776.1	5'UTR	SNP	12 : 56121030 - 56121030 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	646	153
CPT1B	1375	broad.mit.edu	37	22	51015765	51015765	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51015765C>T	ENST00000360719.2	-	3	406	c.269G>A	c.(268-270)tGc>tAc	p.C90Y	CPT1B_ENST00000434492.2_5'UTR|CPT1B_ENST00000405237.3_Missense_Mutation_p.C90Y|CPT1B_ENST00000312108.7_Missense_Mutation_p.C90Y|CPT1B_ENST00000457250.1_Missense_Mutation_p.C90Y|CPT1B_ENST00000395650.2_Missense_Mutation_p.C90Y|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Missense_Mutation_p.C90Y	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	90					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CTGAGGGAGGCATCTCTGGAT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(170;988 1933 25577 30295 48163)							NA				0													72	66	68			NA	NA	22		NA											NA				51015765		2203	4300	6503	SO:0001583	missense			U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560	1375	1375			2329	protein-coding gene	gene with protein product		601987			NA	9070950	Standard	NM_152246	NM_152245	NA	Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.269G>A	22.37:g.51015765C>T	ENSP00000353945:p.Cys90Tyr	NA	Q13389|Q99655|Q9BY90	37	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.414432	0.01145	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000395650;ENST00000417176	T;T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	5.25	0.368	0.16146	.	0.732438	0.14072	N	0.343293	T	0.32526	0.0832	N	0.00793	-1.18	0.09310	N	0.999996	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.40136	-0.9579	10	0.02654	T	1	-2.9602	3.3974	0.07311	0.1851:0.355:0.0:0.4598	.	90;90;90	E9PCP2;B7Z4U4;Q92523	.;.;CPT1B_HUMAN	Y	90	ENSP00000385486:C90Y;ENSP00000312189:C90Y;ENSP00000353945:C90Y;ENSP00000409342:C90Y;ENSP00000414713:C90Y;ENSP00000379011:C90Y;ENSP00000406316:C90Y	ENSP00000312189:C90Y	C	-	2	0	CPT1B	49362631	0.000000	0.05858	0.264000	0.24511	0.960000	0.62799	-0.694000	0.05115	0.230000	0.21059	0.561000	0.74099	TGC	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317264.5		-	ENST00000360719.2	Missense_Mutation	SNP	22 : 51015765 - 51015765 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	11
PTK2	5747	broad.mit.edu	37	8	141856698	141856698	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141856698C>T	ENST00000522684.1	-	6	759	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	PTK2_ENST00000535192.1_Splice_Site_p.R177Q|PTK2_ENST00000340930.3_Splice_Site_p.R177Q|PTK2_ENST00000521059.1_Splice_Site_p.R177Q|PTK2_ENST00000395218.2_Splice_Site_p.R177Q|PTK2_ENST00000519419.1_Splice_Site_p.R221Q|PTK2_ENST00000517887.1_Splice_Site_p.R221Q	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	177	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			ATCATCTTACCGTATTTCTAG	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	99	102			NA	NA	8		NA											NA				141856698		2203	4300	6503	SO:0001630	splice_region_variant			L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	5747	5747	2.7.10.1	Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	9611	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 71	600758	PTK2 protein tyrosine kinase 2		NA	8422239	Standard	NM_005607	NM_153831	NA	Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.530+1G>A	8.37:g.141856698C>T		NA	Q14291|Q9UD85	37	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	C	35	5.496021	0.96355	.	.	ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000340930;ENST00000519419;ENST00000524357	T;T;T;T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;1.03	5.35	5.35	0.76521	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.85691	0.5755	M	0.82193	2.58	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.997;0.999;0.996;0.997;0.998	D	0.86495	0.1800	9	.	.	.	.	18.6889	0.91576	0.0:1.0:0.0:0.0	.	177;84;177;199;177;88	B4E2N6;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6	.;.;FAK1_HUMAN;.;.;.	Q	177;177;221;177;87;177;84;177;221;92	ENSP00000429911:R177Q;ENSP00000438009:R177Q;ENSP00000429082:R221Q;ENSP00000429474:R177Q;ENSP00000378644:R177Q;ENSP00000341189:R177Q;ENSP00000429129:R221Q;ENSP00000429001:R92Q	.	R	-	2	0	PTK2	141925880	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	6.631000	0.74277	2.504000	0.84457	0.484000	0.47621	CGG;CGG;CGG;CGG;CGG;CGG;CGG;CGG;CGG;CGA	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378054.5	Missense_Mutation	-	ENST00000522684.1	Splice_Site	SNP	8 : 141856698 - 141856698 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	328	46
C19orf45	374877	broad.mit.edu	37	19	7569075	7569075	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7569075G>A	ENST00000361664.2	+	3	787	c.646G>A	c.(646-648)Gcc>Acc	p.A216T		NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	216										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						ACAGTTCCAGGCCCTGCCAGG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	54	56			NA	NA	19		NA											NA				7569075		2203	4300	6503	SO:0001583	missense			BC029824	CCDS12179.2	19p13.2	2008-02-05			ENSG00000198723	ENSG00000198723	374877	374877			24745	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_198534	NM_198534	NA	Approved	FLJ35784	uc002mgm.2	Q8NA69	OTTHUMG00000157183	ENST00000361664.2:c.646G>A	19.37:g.7569075G>A	ENSP00000355241:p.Ala216Thr	NA	Q8N115	37	CCDS12179.2	.	.	.	.	.	.	.	.	.	.	g	18.74	3.688119	0.68271	.	.	ENSG00000198723	ENST00000419849;ENST00000361664	T	0.21361	2.01	4.02	1.81	0.25067	.	0.357489	0.29260	N	0.012663	T	0.29190	0.0726	M	0.62723	1.935	0.27481	N	0.952574	D	0.59357	0.985	P	0.55087	0.768	T	0.07271	-1.0781	10	0.62326	D	0.03	-29.0344	4.9702	0.14111	0.0994:0.0:0.5207:0.3799	.	216	Q8NA69	CS045_HUMAN	T	216	ENSP00000355241:A216T	ENSP00000355241:A216T	A	+	1	0	C19orf45	7475075	0.998000	0.40836	0.876000	0.34364	0.991000	0.79684	2.288000	0.43514	0.628000	0.30357	0.536000	0.68110	GCC	C19orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347808.1		+	ENST00000361664.2	Missense_Mutation	SNP	19 : 7569075 - 7569075 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	201	38
EDEM1	9695	broad.mit.edu	37	3	5257520	5257520	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:5257520C>T	ENST00000256497.4	+	12	2024	c.1891C>T	c.(1891-1893)Cgt>Tgt	p.R631C		NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	631					ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		CTAGTGCAATCGTGTACCTGA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													190	157	168			NA	NA	3		NA											NA				5257520		2203	4300	6503	SO:0001583	missense			D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109	9695	9695			18967	protein-coding gene	gene with protein product		607673			NA	12610306	Standard	NM_014674	NM_014674	NA	Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.1891C>T	3.37:g.5257520C>T	ENSP00000256497:p.Arg631Cys	NA	A8K9C8	37	CCDS33686.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805026	0.70682	.	.	ENSG00000134109	ENST00000256497	D	0.83755	-1.76	5.25	5.25	0.73442	.	0.097082	0.64402	D	0.000002	T	0.80649	0.4663	L	0.56769	1.78	0.80722	D	1	D	0.61697	0.99	B	0.43575	0.424	T	0.83158	-0.0100	10	0.66056	D	0.02	-13.5861	12.0944	0.53747	0.2923:0.7077:0.0:0.0	.	631	Q92611	EDEM1_HUMAN	C	631	ENSP00000256497:R631C	ENSP00000256497:R631C	R	+	1	0	EDEM1	5232520	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.814000	0.48010	2.449000	0.82847	0.655000	0.94253	CGT	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337566.2		+	ENST00000256497.4	Missense_Mutation	SNP	3 : 5257520 - 5257520 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	415	75
FLI1	2313	broad.mit.edu	37	11	128680721	128680721	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128680721C>T	ENST00000525560.1	+	7	987	c.618C>T	c.(616-618)aaC>aaT	p.N206N	FLI1_ENST00000527786.2_Silent_p.N399N|FLI1_ENST00000534087.2_Silent_p.N366N|FLI1_ENST00000281428.8_Silent_p.N333N|FLI1_ENST00000344954.6_Silent_p.N366N	NM_001271012.1	NP_001257941.1	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	399					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		AGAAGGTGAACTTTGTCCCTC	0.572		NA	T	EWSR1	Ewing sarcoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		11	11q24	2313	Friend leukemia virus integration 1		M	0													107	113	111			NA	NA	11		NA											NA				128680721		2134	4226	6360	SO:0001819	synonymous_variant			M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702	2313	2313			3749	protein-coding gene	gene with protein product		193067	Friend leukemia virus integration 1		NA	1765382	Standard	NM_002017	NM_001167681	NA	Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000525560.1:c.618C>T	11.37:g.128680721C>T		NA	B2R8H2|Q14319|Q92480|Q9UE07	37	CCDS59230.1																																																																																			FLI1-203	KNOWN	basic|exp_conf|CCDS	protein_coding	NA	protein_coding			+	ENST00000525560.1	Silent	SNP	11 : 128680721 - 128680721 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	277	15
UTP14A	10813	broad.mit.edu	37	X	129060260	129060260	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129060260A>G	ENST00000394422.3	+	14	2016	c.1988A>G	c.(1987-1989)aAt>aGt	p.N663S	UTP14A_ENST00000425117.2_Missense_Mutation_p.N611S|UTP14A_ENST00000371042.3_Missense_Mutation_p.N495S|UTP14A_ENST00000371051.5_Missense_Mutation_p.N609S|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	663					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						AAAGATAAGAATTTGCCAAAT	0.448		NA									OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	77	78			NA	NA	X		NA											NA				129060260		2203	4300	6503	SO:0001583	missense			AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697	10813	10813			10665	protein-coding gene	gene with protein product		300508	serologically defined colon cancer antigen 16	SDCCAG16	NA	9610721, 16354793	Standard	NM_006649	NM_006649	NA	Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.1988A>G	X.37:g.129060260A>G	ENSP00000377944:p.Asn663Ser	1569	A8K7A3|A8MVQ1|Q5JYF1	37	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	A	12.75	2.031633	0.35797	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000371042	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	6.08	1.95	0.26073	.	0.752025	0.14031	N	0.346157	T	0.32164	0.0820	M	0.85630	2.765	0.25957	N	0.982674	B;P;B	0.52170	0.151;0.951;0.052	B;P;B	0.54544	0.059;0.755;0.063	T	0.11518	-1.0584	10	0.36615	T	0.2	-7.9233	5.202	0.15269	0.6379:0.0:0.229:0.1331	.	609;611;663	F8WD00;E9PEL7;Q9BVJ6	.;.;UT14A_HUMAN	S	611;663;609;495	ENSP00000388669:N611S;ENSP00000377944:N663S;ENSP00000360090:N609S;ENSP00000360081:N495S	ENSP00000360081:N495S	N	+	2	0	UTP14A	128887941	0.904000	0.30761	0.994000	0.49952	0.989000	0.77384	1.502000	0.35704	0.346000	0.23899	0.486000	0.48141	AAT	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058221.1		+	ENST00000394422.3	Missense_Mutation	SNP	X : 129060260 - 129060260 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	295	107
PLA2G6	8398	broad.mit.edu	37	22	38512102	38512102	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38512102C>A	ENST00000332509.3	-	13	2042	c.1859G>T	c.(1858-1860)aGg>aTg	p.R620M	PLA2G6_ENST00000335539.3_Missense_Mutation_p.R566M|PLA2G6_ENST00000402064.1_Missense_Mutation_p.R566M	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	620					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	AGCTGGAGGCCTGAGGTTAAC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	68	69			NA	NA	22		NA											NA				38512102		2203	4300	6503	SO:0001583	missense			AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	8398	8398	3.1.1.4	Patatin-like phospholipase domain containing, Parkinson disease, Ankyrin repeat domain containing	9039	protein-coding gene	gene with protein product	neurodegeneration with brain iron accumulation 2	603604			NA	9417066, 16799181, 19029121	Standard	NM_001004426	NM_001199562	NA	Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.1859G>T	22.37:g.38512102C>A	ENSP00000333142:p.Arg620Met	NA	A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	37	CCDS13967.1	.	.	.	.	.	.	.	.	.	.	c	13.60	2.285178	0.40394	.	.	ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064	T;T;T	0.80480	-1.38;-1.38;-1.38	4.57	-2.08	0.07254	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.372399	0.30771	N	0.008917	T	0.78761	0.4334	M	0.67700	2.07	0.25226	N	0.989869	B;P	0.37176	0.32;0.586	B;P	0.46419	0.176;0.516	T	0.72077	-0.4399	10	0.62326	D	0.03	-17.3447	6.2876	0.21041	0.0:0.3876:0.1364:0.476	.	566;620	O60733-2;O60733	.;PA2G6_HUMAN	M	620;481;566;566	ENSP00000333142:R620M;ENSP00000335149:R566M;ENSP00000386100:R566M	ENSP00000333142:R620M	R	-	2	0	PLA2G6	36842048	0.034000	0.19679	0.497000	0.27552	0.065000	0.16274	0.078000	0.14761	-0.412000	0.07519	-0.258000	0.10820	AGG	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321860.1		-	ENST00000332509.3	Missense_Mutation	SNP	22 : 38512102 - 38512102 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	333	61
CAMKMT	79823	broad.mit.edu	37	2	44617401	44617401	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44617401T>C	ENST00000378494.3	+	3	377	c.333T>C	c.(331-333)aaT>aaC	p.N111N	CAMKMT_ENST00000477623.1_3'UTR|CAMKMT_ENST00000407131.1_Silent_p.N111N|CAMKMT_ENST00000403853.3_Silent_p.N111N|CAMKMT_ENST00000402247.1_Silent_p.N111N	NM_024766.4	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	111						cytoplasm	calmodulin-lysine N-methyltransferase activity			breast(2)|large_intestine(3)|lung(5)	10						GATCCTTGAATGTTGAAGATG	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	92	92			NA	NA	2		NA											NA				44617401		2203	4295	6498	SO:0001819	synonymous_variant				CCDS1820.1	2p21	2011-06-22	2011-03-10	2011-03-10	ENSG00000143919	ENSG00000143919	79823	79823	2.1.1.60		26276	protein-coding gene	gene with protein product	CaM KMT	609559	chromosome 2 open reading frame 34	C2orf34	NA	20975703	Standard	NM_024766	NM_024766	NA	Approved	CLNMT	uc002rum.3	Q7Z624	OTTHUMG00000128761	ENST00000378494.3:c.333T>C	2.37:g.44617401T>C		NA	Q4ZG15|Q53SS6|Q8N6P5|Q9H5G8	37	CCDS1820.1	.	.	.	.	.	.	.	.	.	.	T	9.256	1.042061	0.19748	.	.	ENSG00000143919	ENST00000428929	.	.	.	5.71	3.39	0.38822	.	.	.	.	.	T	0.56834	0.2012	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52170	-0.8611	4	.	.	.	-9.2264	7.9724	0.30134	0.0:0.1593:0.0:0.8407	.	.	.	.	R	57	.	.	C	+	1	0	CAMKMT	44470905	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.498000	0.35660	1.006000	0.39211	0.533000	0.62120	TGT	CAMKMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250678.2		+	ENST00000378494.3	Silent	SNP	2 : 44617401 - 44617401 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	448	101
GALNT13	114805	broad.mit.edu	37	2	155102495	155102495	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:155102495G>A	ENST00000392825.3	+	7	1424	c.857G>A	c.(856-858)aGg>aAg	p.R286K	GALNT13_ENST00000409237.1_Splice_Site_p.R286K	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	286	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TTACCTGTCAGGTATGTAGAT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	50	51			NA	NA	2		NA											NA				155102495		2203	4300	6503	SO:0001630	splice_region_variant			AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	114805	114805	2.4.1.41	Glycosyltransferase family 2 domain containing	23242	protein-coding gene	gene with protein product	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13, polypeptide GalNAc transferase 13	608369	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)		NA	11572484, 12407114	Standard	NM_052917	XM_005246267	NA	Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.857+1G>A	2.37:g.155102495G>A		NA	Q6ZWG1|Q96PX0|Q9UIE5	37	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.788402	0.49997	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.59224	0.28;0.28	5.13	4.24	0.50183	Glycosyl transferase, family 2 (1);	0.042624	0.85682	D	0.000000	T	0.54615	0.1869	L	0.58354	1.805	0.80722	D	1	B;B;B;B	0.15719	0.001;0.01;0.014;0.01	B;B;B;B	0.24006	0.006;0.034;0.05;0.034	T	0.51132	-0.8744	10	0.25106	T	0.35	.	15.0273	0.71680	0.0:0.1431:0.8569:0.0	.	286;286;286;286	Q8IUC8-2;B3KY85;Q08ER7;Q8IUC8	.;.;.;GLT13_HUMAN	K	286	ENSP00000376570:R286K;ENSP00000387239:R286K	ENSP00000376570:R286K	R	+	2	0	GALNT13	154810741	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	6.373000	0.73128	1.298000	0.44778	-0.292000	0.09595	AGG	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254870.2	Missense_Mutation	+	ENST00000392825.3	Splice_Site	SNP	2 : 155102495 - 155102495 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	180	47
DIDO1	11083	broad.mit.edu	37	20	61513253	61513253	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61513253T>C	ENST00000266070.4	-	16	4380	c.4055A>G	c.(4054-4056)gAc>gGc	p.D1352G	DIDO1_ENST00000395343.1_Missense_Mutation_p.D1352G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1352					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGGCACCCCGTCCTCTGCTGT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)							NA				0													87	103	98			NA	NA	20		NA											NA				61513253		2203	4300	6503	SO:0001583	missense			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191	11083	11083		Zinc fingers, PHD-type	2680	protein-coding gene	gene with protein product		604140	chromosome 20 open reading frame 158, death associated transcription factor 1	C20orf158, DATF1	NA	10393935	Standard	NM_080796	NM_033081	NA	Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4055A>G	20.37:g.61513253T>C	ENSP00000266070:p.Asp1352Gly	NA	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	37	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	T	9.718	1.158989	0.21454	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.08193	3.12;3.12	5.4	0.574	0.17368	.	0.754501	0.11133	N	0.596070	T	0.02807	0.0084	N	0.02011	-0.69	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.46162	-0.9211	10	0.27082	T	0.32	-12.7922	5.3733	0.16152	0.0:0.3899:0.1524:0.4577	.	1352	Q9BTC0	DIDO1_HUMAN	G	1352	ENSP00000266070:D1352G;ENSP00000378752:D1352G	ENSP00000266070:D1352G	D	-	2	0	DIDO1	60983698	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.089000	0.11180	-0.059000	0.13154	0.460000	0.39030	GAC	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080091.2		-	ENST00000266070.4	Missense_Mutation	SNP	20 : 61513253 - 61513253 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	822	187
PTPRD	5789	broad.mit.edu	37	9	8376626	8376626	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:8376626C>T	ENST00000381196.4	-	35	5030	c.4487G>A	c.(4486-4488)cGa>cAa	p.R1496Q	PTPRD_ENST00000540109.1_Missense_Mutation_p.R1496Q|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1474Q|PTPRD_ENST00000537002.1_Missense_Mutation_p.R1086Q|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1483Q|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1089Q|PTPRD_ENST00000397606.3_Missense_Mutation_p.R1089Q|PTPRD_ENST00000397611.3_Missense_Mutation_p.R1086Q|PTPRD_ENST00000355233.5_Missense_Mutation_p.R1090Q|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1089Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1496Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1496	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGCAAATGTTCGAACACAATA	0.418		NA								TSP Lung(15;0.13)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													191	151	165			NA	NA	9		NA											NA				8376626		2203	4300	6503	SO:0001583	missense			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707	5789	5789		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	9668	protein-coding gene	gene with protein product		601598			NA	7896816, 8355697	Standard		NM_002839	NA	Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4487G>A	9.37:g.8376626C>T	ENSP00000370593:p.Arg1496Gln	NA	B1ALA0	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200664	0.79015	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26	5.57	5.57	0.84162	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.115754	0.56097	D	0.000037	T	0.76321	0.3971	H	0.97896	4.1	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;P;D;D;D	0.91635	0.974;0.974;0.974;0.974;0.991;0.88;0.995;0.934;0.999	D	0.85504	0.1193	9	.	.	.	.	19.5302	0.95226	0.0:1.0:0.0:0.0	.	1089;1080;1089;1090;1086;1086;1483;1496;1496	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	Q	1496;1496;1483;1474;1090;1089;1086;1086;967;1496;1089;1089	ENSP00000370593:R1496Q;ENSP00000348812:R1496Q;ENSP00000353187:R1483Q;ENSP00000351293:R1474Q;ENSP00000347373:R1090Q;ENSP00000380741:R1089Q;ENSP00000380735:R1086Q;ENSP00000440515:R1086Q;ENSP00000438164:R1496Q;ENSP00000417093:R1089Q;ENSP00000380731:R1089Q	.	R	-	2	0	PTPRD	8366626	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.419000	0.80179	2.633000	0.89246	0.591000	0.81541	CGA	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055395.3		-	ENST00000381196.4	Missense_Mutation	SNP	9 : 8376626 - 8376626 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	327	62
LARP1	23367	broad.mit.edu	37	5	154172210	154172210	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154172210G>A	ENST00000336314.4	+	4	386	c.362G>A	c.(361-363)cGt>cAt	p.R121H		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	198							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGCCTACCCGTAAACTGCCA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													195	183	187			NA	NA	5		NA											NA				154172210		2203	4300	6503	SO:0001583	missense			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506	23367	23367		La ribonucleoprotein domain containing	29531	protein-coding gene	gene with protein product		612059			NA	9872452, 10878606	Standard	NM_033551	NM_015315	NA	Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.362G>A	5.37:g.154172210G>A	ENSP00000336721:p.Arg121His	NA	O94836|Q8N4M2|Q8NB73|Q9UFD7	37	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629404	0.87660	.	.	ENSG00000155506	ENST00000336314;ENST00000518297	T;T	0.44083	1.87;0.93	5.93	5.06	0.68205	.	0.112447	0.64402	D	0.000012	T	0.54287	0.1849	L	0.41492	1.28	0.44956	D	0.997972	D;D	0.76494	0.997;0.999	P;D	0.66716	0.607;0.946	T	0.55921	-0.8064	10	0.54805	T	0.06	-8.0234	14.8626	0.70392	0.0686:0.0:0.9314:0.0	.	198;121	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	H	121;198	ENSP00000336721:R121H;ENSP00000428589:R198H	ENSP00000336721:R121H	R	+	2	0	LARP1	154152403	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.070000	0.76763	1.497000	0.48584	0.655000	0.94253	CGT	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252509.1		+	ENST00000336314.4	Missense_Mutation	SNP	5 : 154172210 - 154172210 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	839	147
KAT6B	23522	broad.mit.edu	37	10	76603081	76603081	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76603081G>A	ENST00000287239.4	+	3	955	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	KAT6B_ENST00000372714.1_Missense_Mutation_p.A156T|KAT6B_ENST00000372724.1_Missense_Mutation_p.A156T|KAT6B_ENST00000372711.1_Missense_Mutation_p.A156T|KAT6B_ENST00000372725.1_Missense_Mutation_p.A156T	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	156	H15.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding				NA						GCGACTGGGGGCCAAACGCGC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	66	66			NA	NA	10		NA											NA				76603081		2203	4300	6503	SO:0001583	missense			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650	23522	23522		Chromatin-modifying enzymes / K-acetyltransferases, Zinc fingers, C2HC-type containing, Zinc fingers, PHD-type	17582	protein-coding gene	gene with protein product	MOZ-related factor	605880	MYST histone acetyltransferase (monocytic leukemia) 4	MYST4	NA	9205841, 10497217	Standard	NM_012330	NM_012330	NA	Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.466G>A	10.37:g.76603081G>A	ENSP00000287239:p.Ala156Thr	NA	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	37	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981843	0.74474	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	6.04	6.04	0.98038	.	0.000000	0.45867	D	0.000338	T	0.38108	0.1028	L	0.37630	1.12	0.43622	D	0.996003	D;D;D	0.71674	0.997;0.997;0.998	D;D;D	0.69824	0.942;0.922;0.966	T	0.00872	-1.1532	10	0.25106	T	0.35	-10.7748	20.5948	0.99439	0.0:0.0:1.0:0.0	.	156;156;156	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	T	156	ENSP00000361810:A156T;ENSP00000361809:A156T;ENSP00000287239:A156T;ENSP00000361799:A156T;ENSP00000361796:A156T	ENSP00000287239:A156T	A	+	1	0	KAT6B	76273087	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.321000	0.72881	2.873000	0.98535	0.563000	0.77884	GCC	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048771.1		+	ENST00000287239.4	Missense_Mutation	SNP	10 : 76603081 - 76603081 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	385	71
VCPIP1	80124	broad.mit.edu	37	8	67578482	67578482	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67578482A>C	ENST00000310421.4	-	1	970	c.712T>G	c.(712-714)Tta>Gta	p.L238V		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	238	OTU.				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TTCTCTCTTAAGGCATGCCAG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(179;265 2915 6144 43644)							NA				0													84	80	81			NA	NA	8		NA											NA				67578482		2203	4300	6503	SO:0001583	missense			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073	80124	80124		OTU domain containing	30897	protein-coding gene	gene with protein product		611745			NA	11347906, 12509440	Standard		NM_025054	NA	Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.712T>G	8.37:g.67578482A>C	ENSP00000309031:p.Leu238Val	NA	Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	37	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.022707	0.54683	.	.	ENSG00000175073	ENST00000310421	T	0.44881	0.91	6.16	-1.24	0.09435	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.62708	0.2450	M	0.81942	2.565	0.53005	D	0.999967	D	0.69078	0.997	D	0.79108	0.992	T	0.69011	-0.5258	10	0.87932	D	0	-6.8277	15.0651	0.71986	0.2283:0.0:0.7717:0.0	.	238	Q96JH7	VCIP1_HUMAN	V	238	ENSP00000309031:L238V	ENSP00000309031:L238V	L	-	1	2	VCPIP1	67741036	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	3.171000	0.50824	-0.196000	0.10366	0.528000	0.53228	TTA	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379227.1		-	ENST00000310421.4	Missense_Mutation	SNP	8 : 67578482 - 67578482 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	353	72
TAS1R3	83756	broad.mit.edu	37	1	1269749	1269749	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1269749G>T	ENST00000339381.5	+	6	2496	c.2464G>T	c.(2464-2466)Ggg>Tgg	p.G822W		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	822					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	GCGGCAGCCAGGGCTCAACAC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	24	24			NA	NA	1		NA											NA				1269749		2195	4295	6490	SO:0001583	missense			AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962	83756	83756		Taste receptors / Type 1, GPCR / Unclassified : Taste receptors	15661	protein-coding gene	gene with protein product		605865			NA	11319557	Standard		XM_006710939	NA	Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.2464G>T	1.37:g.1269749G>T	ENSP00000344411:p.Gly822Trp	NA	Q5TA49|Q8NGW9	37	CCDS30556.1	.	.	.	.	.	.	.	.	.	.	G	9.439	1.087578	0.20390	.	.	ENSG00000169962	ENST00000339381	D	0.88896	-2.44	4.59	-2.82	0.05787	GPCR, family 3, C-terminal (1);	1.629200	0.03282	N	0.186320	D	0.83041	0.5168	N	0.08118	0	0.09310	N	1	D	0.57899	0.981	P	0.52424	0.698	T	0.73975	-0.3813	10	0.72032	D	0.01	.	7.2296	0.26034	0.2315:0.2324:0.5361:0.0	.	822	Q7RTX0	TS1R3_HUMAN	W	822	ENSP00000344411:G822W	ENSP00000344411:G822W	G	+	1	0	TAS1R3	1259612	0.026000	0.19158	0.000000	0.03702	0.057000	0.15508	0.984000	0.29565	-0.314000	0.08716	0.456000	0.33151	GGG	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000008493.1		+	ENST00000339381.5	Missense_Mutation	SNP	1 : 1269749 - 1269749 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	113	17
GCN1L1	10985	broad.mit.edu	37	12	120602181	120602181	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120602181C>A	ENST00000300648.6	-	18	1819	c.1807G>T	c.(1807-1809)Gga>Tga	p.G603*		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	603					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCAAGAGTCCGTGCGCCAGC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	95	94			NA	NA	12		NA											NA				120602181		1963	4158	6121	SO:0001587	stop_gained			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28				10985	10985			4199	protein-coding gene	gene with protein product		605614	GCN1 (general control of amino-acid synthesis 1, yeast)-like 1		NA	9234705	Standard		NM_006836	NA	Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.1807G>T	12.37:g.120602181C>A	ENSP00000300648:p.Gly603*	NA	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	37	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	C	38	7.103971	0.98066	.	.	ENSG00000089154	ENST00000300648	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	20.1184	0.97949	0.0:1.0:0.0:0.0	.	.	.	.	X	603	.	ENSP00000300648:G603X	G	-	1	0	GCN1L1	119086564	1.000000	0.71417	0.733000	0.30861	0.934000	0.57294	7.232000	0.78116	2.769000	0.95229	0.655000	0.94253	GGA	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403592.1		-	ENST00000300648.6	Nonsense_Mutation	SNP	12 : 120602181 - 120602181 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	626	119
PSMB7	5695	broad.mit.edu	37	9	127177699	127177699	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127177699C>T	ENST00000259457.3	-	1	19	c.6G>A	c.(4-6)gcG>gcA	p.A2A	PSMB7_ENST00000536392.1_Silent_p.A2A	NM_002799.3	NP_002790.1	Q99436	PSB7_HUMAN	proteasome (prosome, macropain) subunit, beta type, 7	2					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)	5						CCGACACAGCCGCCATCTTCC	0.617		NA									OREG0019476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	37	37			NA	NA	9		NA											NA				127177699		2203	4300	6503	SO:0001819	synonymous_variant			AJ420455	CCDS6855.1	9q34.11-q34.12	2008-02-05			ENSG00000136930	ENSG00000136930	5695	5695		Proteasome (prosome, macropain) subunits	9544	protein-coding gene	gene with protein product		604030			NA	8811196	Standard	NM_002799	NM_002799	NA	Approved	Z	uc004boj.4	Q99436	OTTHUMG00000021042	ENST00000259457.3:c.6G>A	9.37:g.127177699C>T		1555	Q5TBG6|Q96AG8|Q9BWA7	37	CCDS6855.1																																																																																			PSMB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055525.1		-	ENST00000259457.3	Silent	SNP	9 : 127177699 - 127177699 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	213	47
TMEM165	55858	broad.mit.edu	37	4	56277926	56277926	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56277926C>T	ENST00000381334.5	+	2	586	c.353C>T	c.(352-354)gCc>gTc	p.A118V	TMEM165_ENST00000542052.1_Missense_Mutation_p.A55V|TMEM165_ENST00000506198.1_Intron	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	118						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			TTTATAGCAGCCATCATGGCA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	102	107			NA	NA	4		NA											NA				56277926		2203	4300	6503	SO:0001583	missense			AF183409	CCDS3499.1	4q12	2014-03-13			ENSG00000134851	ENSG00000134851	55858	55858			30760	protein-coding gene	gene with protein product	TPA regulated locus	614726			NA	3202867, 22683087, 23575229	Standard	NM_018475	NM_018475	NA	Approved	TMPT27, TPARL, GDT1	uc003hax.3	Q9HC07	OTTHUMG00000128735	ENST00000381334.5:c.353C>T	4.37:g.56277926C>T	ENSP00000370736:p.Ala118Val	NA	A8K3P8|Q9BTN9|Q9NZ34	37	CCDS3499.1	.	.	.	.	.	.	.	.	.	.	C	34	5.366242	0.95900	.	.	ENSG00000134851	ENST00000381334;ENST00000542052	D;D	0.82255	-1.59;-1.59	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.90559	0.7041	M	0.69185	2.1	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.97110	0.979;1.0	D	0.90158	0.4226	10	0.54805	T	0.06	-16.7347	19.3813	0.94536	0.0:1.0:0.0:0.0	.	55;118	B4DHW1;Q9HC07	.;TM165_HUMAN	V	118;55	ENSP00000370736:A118V;ENSP00000437816:A55V	ENSP00000370736:A118V	A	+	2	0	TMEM165	55972683	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.288000	0.78691	2.798000	0.96311	0.655000	0.94253	GCC	TMEM165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250646.4		+	ENST00000381334.5	Missense_Mutation	SNP	4 : 56277926 - 56277926 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	275	57
DHX16	8449	broad.mit.edu	37	6	30638717	30638717	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30638717C>A	ENST00000376442.3	-	3	654	c.459G>T	c.(457-459)caG>caT	p.Q153H		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	153					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						TCTCTGTCTGCTGTTTACTCC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	130	147			NA	NA	6		NA											NA				30638717		1511	2709	4220	SO:0001583	missense			AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560	8449	8449		DEAH-boxes	2739	protein-coding gene	gene with protein product		603405	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16	DDX16	NA	9547260	Standard	NM_003587	NM_003587	NA	Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.459G>T	6.37:g.30638717C>A	ENSP00000365625:p.Gln153His	NA	O60322|Q5JP45|Q969X7|Q96QC1	37	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	C	9.311	1.055593	0.19907	.	.	ENSG00000204560	ENST00000376442;ENST00000415603	T;T	0.65549	-0.16;1.94	4.58	2.72	0.32119	.	0.832667	0.10921	N	0.619429	T	0.18676	0.0448	N	0.08118	0	0.39635	D	0.970235	B;B	0.33841	0.428;0.428	B;B	0.17979	0.02;0.014	T	0.06058	-1.0848	10	0.39692	T	0.17	.	7.9777	0.30164	0.0:0.7938:0.0:0.2062	.	93;153	B4DZ28;O60231	.;DHX16_HUMAN	H	153;93	ENSP00000365625:Q153H;ENSP00000399101:Q93H	ENSP00000365625:Q153H	Q	-	3	2	DHX16	30746696	0.000000	0.05858	0.154000	0.22540	0.678000	0.39670	-0.331000	0.07914	1.133000	0.42147	0.454000	0.30748	CAG	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076076.2		-	ENST00000376442.3	Missense_Mutation	SNP	6 : 30638717 - 30638717 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	495	114
NPAS2	4862	broad.mit.edu	37	2	101584767	101584767	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101584767C>T	ENST00000335681.5	+	11	1217	c.932C>T	c.(931-933)tCg>tTg	p.S311L	NPAS2_ENST00000542504.1_Missense_Mutation_p.S376L	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	311	PAC.				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAAGGGAAGTCGTGTTGCTAC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	151	156			NA	NA	2		NA											NA				101584767		2203	4300	6503	SO:0001583	missense			U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485	4862	4862		Basic helix-loop-helix proteins	7895	protein-coding gene	gene with protein product		603347			NA	9012850, 9079689	Standard		NM_002518	NA	Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.932C>T	2.37:g.101584767C>T	ENSP00000338283:p.Ser311Leu	NA	Q4ZFV9|Q53SQ3|Q86V96|Q99629	37	CCDS2048.1	.	.	.	.	.	.	.	.	.	.	C	36	5.599798	0.96614	.	.	ENSG00000170485	ENST00000335681;ENST00000542504	T;T	0.24538	1.85;1.85	5.76	5.76	0.90799	PAS fold-3 (1);	0.000000	0.85682	D	0.000000	T	0.51193	0.1660	L	0.60845	1.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.45716	-0.9242	10	0.87932	D	0	.	20.3242	0.98691	0.0:1.0:0.0:0.0	.	376;311	F5H027;Q99743	.;NPAS2_HUMAN	L	311;376	ENSP00000338283:S311L;ENSP00000438428:S376L	ENSP00000338283:S311L	S	+	2	0	NPAS2	100951199	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	5.886000	0.69743	2.882000	0.98803	0.655000	0.94253	TCG	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253168.3		+	ENST00000335681.5	Missense_Mutation	SNP	2 : 101584767 - 101584767 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	574	106
NSFL1C	55968	broad.mit.edu	37	20	1426401	1426401	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1426401A>G	ENST00000216879.4	-	8	1727	c.860T>C	c.(859-861)aTc>aCc	p.I287T	NSFL1C_ENST00000350991.4_Missense_Mutation_p.I289T|NSFL1C_ENST00000381658.4_Missense_Mutation_p.I176T|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000353088.2_Missense_Mutation_p.I256T|NSFL1C_ENST00000476071.1_Missense_Mutation_p.I289T	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	287						chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						GTCGATTAAGATGGAAGAGCT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													193	191	192			NA	NA	20		NA											NA				1426401		2203	4300	6503	SO:0001583	missense			AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833	55968	55968		UBX domain containing	15912	protein-coding gene	gene with protein product	SHP1 homolog (S. cerevisiae), UBX domain protein 2C	606610			NA	11042152	Standard	NM_016143	NM_016143	NA	Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.860T>C	20.37:g.1426401A>G	ENSP00000216879:p.Ile287Thr	NA	A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	37	CCDS13015.1	.	.	.	.	.	.	.	.	.	.	A	17.49	3.401691	0.62288	.	.	ENSG00000088833	ENST00000353088;ENST00000476071;ENST00000216879;ENST00000381658;ENST00000350991	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	4.53	4.53	0.55603	.	0.285629	0.35262	N	0.003323	T	0.24198	0.0586	N	0.08118	0	0.54753	D	0.999981	B;B;B	0.31256	0.092;0.316;0.056	B;B;B	0.26969	0.032;0.075;0.021	T	0.16364	-1.0405	10	0.59425	D	0.04	-4.3721	14.3138	0.66434	1.0:0.0:0.0:0.0	.	256;176;287	Q9UNZ2-4;Q9UNZ2-6;Q9UNZ2	.;.;NSF1C_HUMAN	T	256;289;287;176;289	ENSP00000338643:I256T;ENSP00000418529:I289T;ENSP00000216879:I287T;ENSP00000371074:I176T;ENSP00000202584:I289T	ENSP00000216879:I287T	I	-	2	0	NSFL1C	1374401	1.000000	0.71417	0.347000	0.25668	0.924000	0.55760	8.630000	0.90987	2.037000	0.60232	0.459000	0.35465	ATC	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077525.2		-	ENST00000216879.4	Missense_Mutation	SNP	20 : 1426401 - 1426401 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1178	238
TEX13A	56157	broad.mit.edu	37	X	104464070	104464070	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:104464070G>A	ENST00000372578.3	-	3	919	c.808C>T	c.(808-810)Cgg>Tgg	p.R270W	IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.R270W|TEX13A_ENST00000413579.1_Missense_Mutation_p.S269L	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	0						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TGTTTCGACCGACCGGAGATC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	88	87			NA	NA	X		NA											NA				104464070		2078	4208	6286	SO:0001583	missense			AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629	56157	56157			11735	protein-coding gene	gene with protein product		300312	testis expressed sequence 13A		NA	11279525	Standard	NM_031274	NM_031274	NA	Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000372578.3:c.808C>T	X.37:g.104464070G>A	ENSP00000361659:p.Arg270Trp	NA	B1B1G8|Q32NB6	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.22|15.22	2.768797|2.768797	0.49680|0.49680	.|.	.|.	ENSG00000133149|ENSG00000133149	ENST00000372578;ENST00000372575|ENST00000413579	.|.	.|.	.|.	3.45|3.45	3.45|3.45	0.39498|0.39498	.|.	.|0.294550	.|0.18682	.|N	.|0.134132	T|T	0.48095|0.48095	0.1481|0.1481	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	1|1	.|D	.|0.71674	.|0.998	.|P	.|0.53035	.|0.716	T|T	0.35051|0.35051	-0.9804|-0.9804	6|9	0.87932|0.54805	D|T	0|0.06	.|.	9.4612|9.4612	0.38785|0.38785	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|269	.|Q9BXU3	.|TX13A_HUMAN	W|L	270|269	.|.	ENSP00000361656:R270W|ENSP00000399753:S269L	R|S	-|-	1|2	2|0	TEX13A|TEX13A	104350726|104350726	0.003000|0.003000	0.15002|0.15002	0.003000|0.003000	0.11579|0.11579	0.001000|0.001000	0.01503|0.01503	1.334000|1.334000	0.33827|0.33827	1.976000|1.976000	0.57569|0.57569	0.513000|0.513000	0.50165|0.50165	CGG|TCG	TEX13A-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000057774.1		-	ENST00000372578.3	Missense_Mutation	SNP	X : 104464070 - 104464070 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	250	9
RNF157	114804	broad.mit.edu	37	17	74169839	74169839	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74169839G>A	ENST00000269391.6	-	3	372	c.240C>T	c.(238-240)ccC>ccT	p.P80P	RNF157_ENST00000319945.6_Silent_p.P80P	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	80			P -> H (in dbSNP:rs2289602).				zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			GAGTCTTCACGGGTTCTTGGG	0.537		NA											G	1	5e-04	NA	NA	2184	0.0017	0.9998	,	,	NA	3e-04	NA	NA	NA	5e-04	0.7933	EXOME	NA	NA	0.0013	SNP	GBM(186;507 2120 27388 27773 52994)							NA				0													51	45	47			NA	NA	17		NA											NA				74169839		2203	4300	6503	SO:0001819	synonymous_variant			AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576	114804	114804		RING-type (C3HC4) zinc fingers	29402	protein-coding gene	gene with protein product					NA	11572484	Standard	XM_290732	NM_052916	NA	Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.240C>T	17.37:g.74169839G>A		NA	Q8NB72|Q96N56	37	CCDS32740.1																																																																																			RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255874.2		-	ENST00000269391.6	Silent	SNP	17 : 74169839 - 74169839 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	111	19
TPTE	7179	broad.mit.edu	37	21	10973777	10973777	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:10973777C>A	ENST00000298232.7	-	4	325		c.e4-1		TPTE_ENST00000342420.5_Splice_Site|TPTE_ENST00000361285.4_Splice_Site|TPTE_ENST00000415664.2_Splice_Site	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	NA					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGTGGGTGGACTAGAGGATGT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	122	118			NA	NA	21		NA											NA				10973777		2203	4300	6503	SO:0001630	splice_region_variant			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391	7179	7179		Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs	12023	protein-coding gene	gene with protein product	PTEN-related tyrosine phosphatase, cancer/testis antigen 44	604336			NA	10830953, 14659893	Standard		NM_001290224	NA	Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000298232.7:c.43-1G>T	21.37:g.10973777C>A		NA	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	37	CCDS33512.1																																																																																			TPTE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157412.2	Intron	-	ENST00000298232.7	Splice_Site	SNP	21 : 10973777 - 10973777 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	367	24
ATP11A	23250	broad.mit.edu	37	13	113496682	113496682	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113496682C>T	ENST00000487903.1	+	17	1886	c.1798C>T	c.(1798-1800)Cgt>Tgt	p.R600C	ATP11A_ENST00000283558.8_Missense_Mutation_p.R600C|ATP11A_ENST00000375630.2_Missense_Mutation_p.R600C|ATP11A_ENST00000375645.3_Missense_Mutation_p.R600C			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	600					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)				CAGAGTGGAGCGTAACGCAGT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	48	51			NA	NA	13		NA											NA				113496682		2201	4297	6498	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.1798C>T	13.37:g.113496682C>T	ENSP00000420387:p.Arg600Cys	NA	Q5VXT2	37	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.588287	0.66105	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558;ENST00000432166	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	4.9	4.9	0.64082	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.241555	0.46758	D	0.000275	D	0.86435	0.5932	L	0.43598	1.365	0.80722	D	1	D;P;P	0.69078	0.997;0.951;0.918	P;P;P	0.58077	0.832;0.773;0.67	D	0.88191	0.2877	10	0.87932	D	0	.	18.4568	0.90724	0.0:1.0:0.0:0.0	.	600;600;600	E9PCW5;E9PEJ6;P98196	.;.;AT11A_HUMAN	C	600;600;600;600;41	ENSP00000420387:R600C;ENSP00000364781:R600C;ENSP00000364796:R600C;ENSP00000283558:R600C	ENSP00000283558:R600C	R	+	1	0	ATP11A	112544683	1.000000	0.71417	0.994000	0.49952	0.102000	0.19082	7.093000	0.76937	2.421000	0.82119	0.563000	0.77884	CGT	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045834.3		+	ENST00000487903.1	Missense_Mutation	SNP	13 : 113496682 - 113496682 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	64	17
CNTNAP3	79937	broad.mit.edu	37	9	39109231	39109231	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:39109231A>C	ENST00000297668.6	-	15	2364	c.2291T>G	c.(2290-2292)aTt>aGt	p.I764S	CNTNAP3_ENST00000377656.2_Missense_Mutation_p.I763S|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.I676S	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	764	Fibrinogen C-terminal.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TGTCATCACAATCTGAGTGAC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	44	45			NA	NA	9		NA											NA				39109231		2203	4300	6503	SO:0001583	missense			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714	79937	79937			13834	protein-coding gene	gene with protein product	cell recognition molecule CASPR3 (FLJ14195, KIAA1714)	610517			NA	12093160	Standard	NM_033655	NM_033655	NA	Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.2291T>G	9.37:g.39109231A>C	ENSP00000297668:p.Ile764Ser	NA	B1AMA0|Q9C0E9	37	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.181223	0.38511	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144	T;T;T	0.16196	2.36;2.36;2.36	2.99	1.78	0.24846	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	.	.	.	.	T	0.34337	0.0894	M	0.80422	2.495	0.44603	D	0.997579	D;D;P	0.62365	0.973;0.991;0.956	P;D;P	0.66497	0.733;0.944;0.757	T	0.10567	-1.0624	9	0.23891	T	0.37	.	7.4277	0.27109	0.8056:0.0:0.0:0.1944	.	764;763;764	Q9BZ76-2;A6NC89;Q9BZ76	.;.;CNTP3_HUMAN	S	764;763;676	ENSP00000297668:I764S;ENSP00000366884:I763S;ENSP00000350863:I676S	ENSP00000297668:I764S	I	-	2	0	CNTNAP3	39099231	0.705000	0.27846	0.002000	0.10522	0.397000	0.30659	6.375000	0.73137	0.338000	0.23692	0.254000	0.18369	ATT	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052511.1		-	ENST00000297668.6	Missense_Mutation	SNP	9 : 39109231 - 39109231 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	211	36
RAB19	401409	broad.mit.edu	37	7	140111711	140111711	+	Missense_Mutation	SNP	G	G	A	rs146219058	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140111711G>A	ENST00000356407.3	+	2	307	c.239G>A	c.(238-240)cGc>cAc	p.R80H	RAB19_ENST00000537763.1_Missense_Mutation_p.R80H|RAB19_ENST00000275874.5_Missense_Mutation_p.R127H			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	80					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					GAGCGCTTCCGCACCATCACC	0.582		NA											G	3	0.0014	0.0041	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0014	1	LOWCOV	NA	NA	4e-04	SNP								NA				0								G	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	123	101	108		239	4.7	1	7	dbSNP_134	108	0,8600		0,0,4300	yes	missense	RAB19	NM_001008749.2	29	0,3,6500	AA,AG,GG	NA	0.0,0.0681,0.0231	probably-damaging	80/218	140111711	3,13003	2203	4300	6503	SO:0001583	missense				CCDS34762.1, CCDS34762.2	7q34	2014-05-09			ENSG00000146955	ENSG00000146955	401409	401409		RAB, member RAS oncogene	19982	protein-coding gene	gene with protein product					NA		Standard		NM_001008749	NA	Approved	RAB19B	uc010lni.2	A4D1S5	OTTHUMG00000157410	ENST00000356407.3:c.239G>A	7.37:g.140111711G>A	ENSP00000348778:p.Arg80His	NA	A4D1S6|B2RTS6|B5MDR2|Q9UL27	37	CCDS34762.2	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	G	22.2	4.254546	0.80135	6.81E-4	0.0	ENSG00000146955	ENST00000495590;ENST00000275874;ENST00000537763;ENST00000356407	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.59	4.68	0.58851	Small GTP-binding protein domain (1);	0.098409	0.64402	D	0.000001	T	0.82139	0.4972	M	0.75447	2.3	0.80722	D	1	D	0.59357	0.985	P	0.50378	0.639	D	0.84581	0.0661	10	0.87932	D	0	.	13.6217	0.62140	0.0775:0.0:0.9225:0.0	.	80	A4D1S5	RAB19_HUMAN	H	80;127;80;80	ENSP00000420782:R80H;ENSP00000275874:R127H;ENSP00000440167:R80H;ENSP00000348778:R80H	ENSP00000275874:R127H	R	+	2	0	RAB19	139758180	1.000000	0.71417	1.000000	0.80357	0.414000	0.31173	5.678000	0.68153	1.300000	0.44818	0.491000	0.48974	CGC	RAB19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348740.1		+	ENST00000356407.3	Missense_Mutation	SNP	7 : 140111711 - 140111711 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	396	67
SPNS1	83985	broad.mit.edu	37	16	28995106	28995106	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28995106G>A	ENST00000311008.11	+	11	1697		c.e11-1		RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000323081.8_Splice_Site|SPNS1_ENST00000565975.1_Splice_Site|SPNS1_ENST00000334536.8_Splice_Site|SPNS1_ENST00000352260.7_Splice_Site	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	NA					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						TCTCCCTGCAGATCTCTGACC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	58	56			NA	NA	16		NA											NA				28995106		2196	4300	6496	SO:0001630	splice_region_variant			BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682	83985	83985			30621	protein-coding gene	gene with protein product		612583			NA	11340170, 12815463	Standard	NM_032038	NM_032038	NA	Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.1321-1G>A	16.37:g.28995106G>A		NA	B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	37	CCDS10646.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532887	0.64972	.	.	ENSG00000169682	ENST00000311008;ENST00000334536;ENST00000352260;ENST00000323081	.	.	.	4.47	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6705	0.68939	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPNS1	28902607	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	6.118000	0.71583	2.308000	0.77769	0.555000	0.69702	.	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254690.2	Intron	+	ENST00000311008.11	Splice_Site	SNP	16 : 28995106 - 28995106 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	721	115
NOL8	55035	broad.mit.edu	37	9	95078044	95078044	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95078044A>G	ENST00000535387.1	-	6	862	c.863T>C	c.(862-864)tTg>tCg	p.L288S	NOL8_ENST00000442668.2_Missense_Mutation_p.L288S|NOL8_ENST00000542053.1_Missense_Mutation_p.L220S|NOL8_ENST00000545558.1_Missense_Mutation_p.L288S|NOL8_ENST00000358855.4_Missense_Mutation_p.L220S			Q76FK4	NOL8_HUMAN	nucleolar protein 8	288					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						GGCAGTTTCCAAGCCAGAAGT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	39	40			NA	NA	9		NA											NA				95078044		1831	4094	5925	SO:0001583	missense			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000	55035	55035		RNA binding motif (RRM) containing	23387	protein-coding gene	gene with protein product		611534	chromosome 9 open reading frame 34	C9orf34	NA	12477932	Standard	NM_017948	NM_017948	NA	Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.863T>C	9.37:g.95078044A>G	ENSP00000441300:p.Leu288Ser	NA	Q5TCC7|Q5TCC8|Q5TCD3|Q5TCD5|Q5TCD6|Q5TCD7|Q76D35|Q7L3E2|Q9H586|Q9H795|Q9H7W7|Q9H9J6|Q9NWA4|Q9NWM4	37	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	A	9.794	1.178662	0.21787	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670;ENST00000433029	T;T;T;T;T;T;T	0.44482	2.52;2.52;2.52;2.74;2.52;2.26;0.92	5.57	3.22	0.36961	.	1.237480	0.05257	N	0.515005	T	0.26448	0.0646	N	0.19112	0.55	0.09310	N	1	B	0.26195	0.144	B	0.18561	0.022	T	0.21381	-1.0247	10	0.26408	T	0.33	-0.3825	4.0438	0.09763	0.492:0.2688:0.2392:0.0	.	288	Q76FK4	NOL8_HUMAN	S	288;290;220;288;288;220;288;288	ENSP00000401177:L288S;ENSP00000351723:L220S;ENSP00000441140:L288S;ENSP00000441300:L288S;ENSP00000440709:L220S;ENSP00000414112:L288S;ENSP00000412471:L288S	ENSP00000351723:L220S	L	-	2	0	NOL8	94117865	0.003000	0.15002	0.206000	0.23566	0.197000	0.23852	1.841000	0.39240	0.926000	0.37118	0.528000	0.53228	TTG	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053082.2		-	ENST00000535387.1	Missense_Mutation	SNP	9 : 95078044 - 95078044 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	146	16
DCAF15	90379	broad.mit.edu	37	19	14067054	14067054	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14067054A>G	ENST00000254337.6	+	5	614	c.593A>G	c.(592-594)gAt>gGt	p.D198G		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	198										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GCTTGCCAGGATGCCAGCCGA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	27	28			NA	NA	19		NA											NA				14067054		2201	4298	6499	SO:0001583	missense			BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017	90379	90379		DDB1 and CUL4 associated factors	25095	protein-coding gene	gene with protein product			chromosome 19 open reading frame 72	C19orf72	NA		Standard	NM_138353	NM_138353	NA	Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.593A>G	19.37:g.14067054A>G	ENSP00000254337:p.Asp198Gly	NA	B3KS86|Q96DW0|Q9BU31	37	CCDS32926.1	.	.	.	.	.	.	.	.	.	.	a	15.09	2.730928	0.48939	.	.	ENSG00000132017	ENST00000254337	.	.	.	4.58	4.58	0.56647	.	0.370632	0.25065	N	0.033412	T	0.32041	0.0816	L	0.36672	1.1	0.26519	N	0.974469	B	0.30361	0.277	B	0.23419	0.046	T	0.19353	-1.0308	9	0.37606	T	0.19	-4.1699	13.2115	0.59828	1.0:0.0:0.0:0.0	.	198	Q66K64	DCA15_HUMAN	G	198	.	ENSP00000254337:D198G	D	+	2	0	DCAF15	13928054	0.997000	0.39634	0.965000	0.40720	0.960000	0.62799	3.933000	0.56545	1.826000	0.53198	0.448000	0.29417	GAT	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458099.1		+	ENST00000254337.6	Missense_Mutation	SNP	19 : 14067054 - 14067054 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	244	44
PDYN	5173	broad.mit.edu	37	20	1961097	1961097	+	Missense_Mutation	SNP	G	G	A	rs150455107		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1961097G>A	ENST00000217305.2	-	4	862	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	PDYN_ENST00000540134.1_Missense_Mutation_p.R213C|PDYN_ENST00000539905.1_Missense_Mutation_p.R213C|RP4-684O24.5_ENST00000446562.1_RNA	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	213					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	p.R213C(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGACGAATGCGCCGCAAGAAG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)						G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	101	112	108		637,637,637,637,637	4	1	20	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	PDYN	NM_001190892.1,NM_001190898.2,NM_001190899.2,NM_001190900.1,NM_024411.4	180,180,180,180,180	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	213/255,213/255,213/255,213/255,213/255	1961097	1,13005	2203	4300	6503	SO:0001583	missense				CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327	5173	5173		Endogenous ligands	8820	protein-coding gene	gene with protein product	preproenkephalin B, rimorphin, beta-neoendorphin, dynorphin, leu-enkephalin, leumorphin, neoendorphin-dynorphin-enkephalin prepropeptide	131340	spinocerebellar ataxia 23	SCA23	NA	21035104	Standard		NM_001190892	NA	Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.637C>T	20.37:g.1961097G>A	ENSP00000217305:p.Arg213Cys	NA	A8K0Q3	37	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055632	0.75960	0.0	1.16E-4	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	D;D;D	0.83591	-1.74;-1.74;-1.74	5.0	3.99	0.46301	.	0.000000	0.85682	D	0.000000	D	0.90868	0.7131	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90666	0.4594	10	0.52906	T	0.07	-19.9746	9.944	0.41598	0.0:0.0:0.7025:0.2975	.	213	P01213	PDYN_HUMAN	C	213	ENSP00000440185:R213C;ENSP00000442259:R213C;ENSP00000217305:R213C	ENSP00000217305:R213C	R	-	1	0	PDYN	1909097	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.681000	0.37618	2.603000	0.88011	0.313000	0.20887	CGC	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077569.2		-	ENST00000217305.2	Missense_Mutation	SNP	20 : 1961097 - 1961097 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	792	153
CHD6	84181	broad.mit.edu	37	20	40068746	40068746	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40068746G>A	ENST00000373233.3	-	26	4078	c.3901C>T	c.(3901-3903)Cga>Tga	p.R1301*	CHD6_ENST00000309279.7_Nonsense_Mutation_p.R784*	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1301					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGGTCTGCTCGCATGGCATTG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	103	106			NA	NA	20		NA											NA				40068746		2203	4300	6503	SO:0001587	stop_gained			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177	NA	84181			19057	protein-coding gene	gene with protein product					NA	11889561	Standard		NM_032221	NA	Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.3901C>T	20.37:g.40068746G>A	ENSP00000362330:p.Arg1301*	NA	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	37	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	44	10.586576	0.99432	.	.	ENSG00000124177	ENST00000373233;ENST00000309279	.	.	.	5.74	2.59	0.31030	.	0.000000	0.45606	D	0.000357	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9327	14.8072	0.69965	0.0:0.0:0.6242:0.3758	.	.	.	.	X	1301;784	.	ENSP00000308684:R784X	R	-	1	2	CHD6	39502160	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.412000	0.52679	0.757000	0.33036	0.563000	0.77884	CGA	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079270.1		-	ENST00000373233.3	Nonsense_Mutation	SNP	20 : 40068746 - 40068746 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	370	77
PLBD2	196463	broad.mit.edu	37	12	113824778	113824778	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113824778G>A	ENST00000545182.2	+	9	1262	c.1227G>A	c.(1225-1227)caG>caA	p.Q409Q	PLBD2_ENST00000280800.3_Silent_p.Q441Q	NM_001159727.1	NP_001153199.1	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	441					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GTGGGCTGCAGGCCCTAGTGG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	63	64			NA	NA	12		NA											NA				113824778		2203	4300	6503	SO:0001819	synonymous_variant			BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176	196463	196463			27283	protein-coding gene	gene with protein product	PLB homolog 2 (Dictyostelium), mannose-6-phosphate protein associated protein p76				NA	17105447, 15193148, 19019078	Standard	NM_173542	NM_001159727	NA	Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000545182.2:c.1227G>A	12.37:g.113824778G>A		NA		37	CCDS53834.1																																																																																			PLBD2-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404834.1		+	ENST00000545182.2	Silent	SNP	12 : 113824778 - 113824778 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	503	24
KIF23	9493	broad.mit.edu	37	15	69730728	69730728	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69730728A>C	ENST00000559279.1	+	15	1917	c.1697A>C	c.(1696-1698)aAa>aCa	p.K566T	KIF23_ENST00000537891.1_Missense_Mutation_p.K383T|KIF23_ENST00000352331.4_Missense_Mutation_p.K566T|KIF23_ENST00000558585.1_Missense_Mutation_p.K383T|KIF23_ENST00000260363.4_Missense_Mutation_p.K566T|KIF23_ENST00000395392.2_Missense_Mutation_p.K566T			Q02241	KIF23_HUMAN	kinesin family member 23	598					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						AAGAAAAACAAAACTTTAGAA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	64	63			NA	NA	15		NA											NA				69730728		2199	4297	6496	SO:0001583	missense			X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807	9493	9493		Kinesins	6392	protein-coding gene	gene with protein product		605064	kinesin-like 5 (mitotic kinesin-like protein 1)	KNSL5	NA	1406973	Standard		NM_138555	NA	Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000559279.1:c.1697A>C	15.37:g.69730728A>C	ENSP00000453386:p.Lys566Thr	NA	Q8WVP0	37	CCDS32279.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.282333	0.80692	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392;ENST00000537891	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.55	4.43	0.53597	.	0.087928	0.85682	D	0.000000	T	0.66694	0.2815	L	0.38175	1.15	0.58432	D	0.999995	P;D;D	0.71674	0.945;0.998;0.986	P;D;P	0.70487	0.493;0.969;0.835	T	0.62374	-0.6868	10	0.29301	T	0.29	.	10.2854	0.43564	0.9233:0.0:0.0767:0.0	.	383;566;566	B4E1K0;Q02241-2;Q02241	.;.;KIF23_HUMAN	T	566;566;566;383	ENSP00000260363:K566T;ENSP00000304978:K566T;ENSP00000378790:K566T;ENSP00000442969:K383T	ENSP00000260363:K566T	K	+	2	0	KIF23	67517782	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.841000	0.75374	0.950000	0.37743	0.528000	0.53228	AAA	KIF23-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416676.2		+	ENST00000559279.1	Missense_Mutation	SNP	15 : 69730728 - 69730728 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	252	10
BFSP2	8419	broad.mit.edu	37	3	133118967	133118967	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133118967G>A	ENST00000302334.2	+	1	129	c.40G>A	c.(40-42)Gcc>Acc	p.A14T		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	14	Head.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						GCCCACCAGTGCCAGCTCCAG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	96	91			NA	NA	3		NA											NA				133118967		2203	4300	6503	SO:0001583	missense			U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819	8419	8419		Intermediate filaments type VI, eye lens intermediate filaments	1041	protein-coding gene	gene with protein product		603212			NA		Standard		NM_003571	NA	Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.40G>A	3.37:g.133118967G>A	ENSP00000304987:p.Ala14Thr	NA	Q14D32|Q9HBW5	37	CCDS33859.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.402705	0.25291	.	.	ENSG00000170819	ENST00000302334	D	0.83250	-1.7	5.28	-8.74	0.00838	.	1.046730	0.07509	N	0.908564	T	0.62974	0.2472	L	0.31294	0.92	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48352	-0.9043	10	0.30854	T	0.27	-0.3133	0.5744	0.00701	0.3791:0.1489:0.203:0.269	.	14	Q13515	BFSP2_HUMAN	T	14	ENSP00000304987:A14T	ENSP00000304987:A14T	A	+	1	0	BFSP2	134601657	0.000000	0.05858	0.001000	0.08648	0.575000	0.36095	-1.234000	0.02931	-1.352000	0.02194	-0.379000	0.06801	GCC	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357031.1		+	ENST00000302334.2	Missense_Mutation	SNP	3 : 133118967 - 133118967 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	596	106
GEMIN4	50628	broad.mit.edu	37	17	648153	648153	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:648153G>A	ENST00000576778.1	-	1	4438	c.3097C>T	c.(3097-3099)Cct>Tct	p.P1033S	GEMIN4_ENST00000319004.5_Missense_Mutation_p.P1044S			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	1044			R -> C (in dbSNP:rs7813).		rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CGTTCTTCAGGGCCGATGCCC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	42	42			NA	NA	17		NA											NA				648153		1994	4163	6157	SO:0001583	missense			AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409	50628	50628			15717	protein-coding gene	gene with protein product	HCC-associated protein 1, component of gems 4	606969			NA	10725331	Standard	NM_015721	NM_015721	NA	Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000576778.1:c.3097C>T	17.37:g.648153G>A	ENSP00000459565:p.Pro1033Ser	NA	Q9NZS7|Q9UG32|Q9Y4Q2	37		.	.	.	.	.	.	.	.	.	.	G	7.474	0.647231	0.14516	.	.	ENSG00000179409	ENST00000319004	T	0.05382	3.45	5.71	5.71	0.89125	.	0.384630	0.28476	N	0.015215	T	0.13286	0.0322	L	0.60455	1.87	0.80722	D	1	D	0.56287	0.975	P	0.51516	0.672	T	0.07271	-1.0781	10	0.20519	T	0.43	-13.8527	14.6388	0.68708	0.0:0.2571:0.7429:0.0	.	1044	P57678	GEMI4_HUMAN	S	1044	ENSP00000321706:P1044S	ENSP00000321706:P1044S	P	-	1	0	GEMIN4	594903	0.893000	0.30496	0.996000	0.52242	0.073000	0.16967	1.509000	0.35780	2.709000	0.92574	0.655000	0.94253	CCT	GEMIN4-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000437182.1		-	ENST00000576778.1	Missense_Mutation	SNP	17 : 648153 - 648153 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	151	13
NGRN	51335	broad.mit.edu	37	15	90814847	90814847	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90814847C>T	ENST00000379095.3	+	3	711	c.703C>T	c.(703-705)Cag>Tag	p.Q235*	RP11-697E2.6_ENST00000561573.1_3'UTR|NGRN_ENST00000331497.3_3'UTR	NM_001033088.1	NP_001028260.2	Q9NPE2	NGRN_HUMAN	neugrin, neurite outgrowth associated	235					neuron differentiation	extracellular region|nucleus				kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			AAGAGAGCTGCAGAAGTACTC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	45	47			NA	NA	15		NA											NA				90814847		2199	4298	6497	SO:0001587	stop_gained			AB029315	CCDS32329.1	15q26.1	2008-02-05			ENSG00000182768	ENSG00000182768	51335	51335			18077	protein-coding gene	gene with protein product					NA	11118320	Standard		NR_028052	NA	Approved	DSC92	uc002bpf.1	Q9NPE2	OTTHUMG00000149807	ENST00000379095.3:c.703C>T	15.37:g.90814847C>T	ENSP00000368389:p.Gln235*	NA	B2R6M8|Q4V9L7|Q9HBL4	37	CCDS32329.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583783	0.46006	.	.	ENSG00000182768	ENST00000379095	.	.	.	3.67	2.74	0.32292	.	0.433136	0.19828	U	0.105146	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	10.6392	0.45584	0.1933:0.8067:0.0:0.0	.	.	.	.	X	235	.	ENSP00000368389:Q235X	Q	+	1	0	NGRN	88615851	0.167000	0.22975	0.003000	0.11579	0.323000	0.28346	1.272000	0.33109	1.108000	0.41662	0.557000	0.71058	CAG	NGRN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313418.1		+	ENST00000379095.3	Nonsense_Mutation	SNP	15 : 90814847 - 90814847 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	215	13
XDH	7498	broad.mit.edu	37	2	31570487	31570487	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31570487G>A	ENST00000379416.3	-	29	3225	c.3177C>T	c.(3175-3177)acC>acT	p.T1059T		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1059					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AAATCTTAGAGGTGGGGATTT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(66;682 1445 30109 40147)							NA				0													107	110	109			NA	NA	2		NA											NA				31570487		2203	4300	6503	SO:0001819	synonymous_variant			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	7498	7498	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	xanthene dehydrogenase		NA	8224915	Standard	NM_000379	NM_000379	NA	Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3177C>T	2.37:g.31570487G>A		NA	Q16681|Q16712|Q4PJ16	37	CCDS1775.1																																																																																			XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216840.1		-	ENST00000379416.3	Silent	SNP	2 : 31570487 - 31570487 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	577	142
SHROOM1	134549	broad.mit.edu	37	5	132160764	132160764	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:132160764G>A	ENST00000378679.3	-	5	1784	c.980C>T	c.(979-981)gCt>gTt	p.A327V	SHROOM1_ENST00000378676.1_Splice_Site_p.A327V|SHROOM1_ENST00000319854.3_Splice_Site_p.A327V	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	327					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGGGGAACAGCCTGGAAGGG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	140	137			NA	NA	5		NA											NA				132160764		2203	4300	6503	SO:0001630	splice_region_variant			AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403	134549	134549			24084	protein-coding gene	gene with protein product		611179			NA	11853319, 16615870	Standard	NM_133456	NM_133456	NA	Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.979-1C>T	5.37:g.132160764G>A		NA	B7WP40|B7ZL01|Q8TDP0|Q8TF41	37	CCDS54902.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.672525	0.29693	.	.	ENSG00000164403	ENST00000378679;ENST00000319854;ENST00000378676	T;T;T	0.27890	1.64;1.64;1.64	4.64	1.7	0.24286	.	1.006700	0.07999	N	0.988432	T	0.18425	0.0442	N	0.19112	0.55	0.09310	N	1	B;B	0.26602	0.154;0.096	B;B	0.27262	0.078;0.036	T	0.31251	-0.9950	10	0.30854	T	0.27	-2.3592	4.3089	0.10960	0.2093:0.1905:0.6002:0.0	.	327;327	Q2M3G4-2;Q2M3G4	.;SHRM1_HUMAN	V	327	ENSP00000367950:A327V;ENSP00000324245:A327V;ENSP00000367947:A327V	ENSP00000324245:A327V	A	-	2	0	SHROOM1	132188663	0.463000	0.25799	0.782000	0.31804	0.183000	0.23260	0.542000	0.23222	0.562000	0.29204	0.561000	0.74099	GCT	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000133033.1	Missense_Mutation	-	ENST00000378679.3	Splice_Site	SNP	5 : 132160764 - 132160764 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	416	13
ADAMTS16	170690	broad.mit.edu	37	5	5306689	5306689	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5306689T>C	ENST00000274181.7	+	21	3397	c.3259T>C	c.(3259-3261)Tat>Cat	p.Y1087H		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1087	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TTCTGGAAAGTATCGAGAGCT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	84	84			NA	NA	5		NA											NA				5306689		1918	4121	6039	SO:0001583	missense			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536	170690	170690		ADAM metallopeptidases with thrombospondin type 1 motif	17108	protein-coding gene	gene with protein product		607510	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16		NA	11867212	Standard	NM_139056	NM_139056	NA	Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.3259T>C	5.37:g.5306689T>C	ENSP00000274181:p.Tyr1087His	NA	C6G490|Q8IVE2	37	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	T	12.22	1.871652	0.33069	.	.	ENSG00000145536	ENST00000274181	T	0.60920	0.15	5.51	4.36	0.52297	.	0.073859	0.56097	D	0.000031	T	0.66177	0.2763	M	0.61703	1.905	0.40458	D	0.980219	D	0.76494	0.999	D	0.70487	0.969	T	0.64045	-0.6499	10	0.15066	T	0.55	.	7.8219	0.29292	0.0:0.0933:0.0:0.9067	.	1087	Q8TE57	ATS16_HUMAN	H	1087	ENSP00000274181:Y1087H	ENSP00000274181:Y1087H	Y	+	1	0	ADAMTS16	5359689	1.000000	0.71417	0.938000	0.37757	0.054000	0.15201	5.836000	0.69375	0.952000	0.37798	0.459000	0.35465	TAT	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365657.1		+	ENST00000274181.7	Missense_Mutation	SNP	5 : 5306689 - 5306689 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	399	102
ZC3H12A	80149	broad.mit.edu	37	1	37947216	37947216	+	Missense_Mutation	SNP	C	C	T	rs141438153	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:37947216C>T	ENST00000373087.6	+	4	714	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	200					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCACATCCTGCGGGAACTGGA	0.602		NA											C	1	5e-04	NA	NA	2184	NA	0.9999	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.9181	LOWCOV,EXOME	NA	NA	0.0013	SNP								NA				0													160	148	152			NA	NA	1		NA											NA				37947216		2203	4300	6503	SO:0001583	missense				CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874	80149	80149		Zinc fingers, CCCH-type domain containing	26259	protein-coding gene	gene with protein product	MCP induced protein 1	610562			NA	18178554, 22055188	Standard	NM_025079	NM_025079	NA	Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.598C>T	1.37:g.37947216C>T	ENSP00000362179:p.Arg200Trp	NA	D3DPT0|Q6I9Z1|Q9H5P1	37	CCDS417.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	17.30	3.354347	0.61293	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.44881	0.91	5.42	2.49	0.30216	Ribonuclease Zc3h12a-like (1);	0.177358	0.50627	N	0.000109	T	0.47948	0.1473	L	0.36672	1.1	0.36793	D	0.884925	D	0.89917	1.0	D	0.77557	0.99	T	0.51124	-0.8745	10	0.59425	D	0.04	-16.5197	6.2099	0.20623	0.112:0.6504:0.1088:0.1288	.	200	Q5D1E8	ZC12A_HUMAN	W	200	ENSP00000362179:R200W	ENSP00000362174:R200W	R	+	1	2	ZC3H12A	37719803	0.525000	0.26290	0.956000	0.39512	0.919000	0.55068	0.474000	0.22148	0.014000	0.14944	-1.134000	0.01955	CGG	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000012154.2		+	ENST00000373087.6	Missense_Mutation	SNP	1 : 37947216 - 37947216 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	397	37
TMEFF1	8577	broad.mit.edu	37	9	103312424	103312424	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:103312424T>C	ENST00000374879.4	+	7	1189	c.757T>C	c.(757-759)Tat>Cat	p.Y253H	TMEFF1_ENST00000334943.6_Missense_Mutation_p.Y214H|MSANTD3-TMEFF1_ENST00000502978.1_Missense_Mutation_p.I216T	NM_003692.4	NP_003683.2			transmembrane protein with EGF-like and two follistatin-like domains 1	NA										NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				TGGACTACAATATCGACCAGA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	120	122			NA	NA	9		NA											NA				103312424		2203	4300	6503	SO:0001583	missense			U19878	CCDS6750.1	9q31	2010-05-04			ENSG00000241697	ENSG00000241697	8577	8577			11866	protein-coding gene	gene with protein product	tomoregulin-1, cancer/testis antigen family 120, member 1	603421		C9orf2	NA	9730596	Standard	NM_003692	NM_003692	NA	Approved	H7365, CT120.1		Q8IYR6	OTTHUMG00000020367	ENST00000374879.4:c.757T>C	9.37:g.103312424T>C	ENSP00000364013:p.Tyr253His	NA		37	CCDS6750.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.99|12.99	2.102245|2.102245	0.37145|0.37145	.|.	.|.	ENSG00000251349|ENSG00000241697	ENST00000502978|ENST00000334943;ENST00000374879	.|T;T	.|0.58060	.|0.39;0.36	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|0.341708	.|0.31624	.|N	.|0.007334	T|T	0.35393|0.35393	0.0930|0.0930	N|N	0.14661|0.14661	0.345|0.345	0.36267|0.36267	D|D	0.854935|0.854935	.|P;P	.|0.41366	.|0.747;0.545	.|B;B	.|0.42738	.|0.396;0.149	T|T	0.40478|0.40478	-0.9561|-0.9561	5|10	.|0.16420	.|T	.|0.52	-36.4037|-36.4037	9.3072|9.3072	0.37883|0.37883	0.1602:0.0:0.0:0.8398|0.1602:0.0:0.0:0.8398	.|.	.|253;214	.|Q8IYR6;Q8IYR6-2	.|TEFF1_HUMAN;.	T|H	216|214;253	.|ENSP00000334447:Y214H;ENSP00000364013:Y253H	.|ENSP00000334447:Y214H	I|Y	+|+	2|1	0|0	C9orf30-TMEFF1|TMEFF1	102352245|102352245	0.999000|0.999000	0.42202|0.42202	0.949000|0.949000	0.38748|0.38748	0.979000|0.979000	0.70002|0.70002	3.771000|3.771000	0.55318|0.55318	2.182000|2.182000	0.69389|0.69389	0.477000|0.477000	0.44152|0.44152	ATA|TAT	TMEFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053418.1		+	ENST00000374879.4	Missense_Mutation	SNP	9 : 103312424 - 103312424 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	374	65
IL17RC	84818	broad.mit.edu	37	3	9972601	9972601	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9972601C>T	ENST00000295981.3	+	16	1792	c.1574C>T	c.(1573-1575)gCg>gTg	p.A525V	IL17RC_ENST00000413608.1_Missense_Mutation_p.A454V|IL17RC_ENST00000403601.3_Missense_Mutation_p.A454V|IL17RC_ENST00000383812.4_Missense_Mutation_p.A439V|IL17RC_ENST00000416074.2_Missense_Mutation_p.A293V|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000455057.1_Missense_Mutation_p.A422V	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	525						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GACTTGGGAGCGCTATGGGCC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													272	256	261			NA	NA	3		NA											NA				9972601		2203	4300	6503	SO:0001583	missense			BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702	84818	84818		Interleukins and interleukin receptors	18358	protein-coding gene	gene with protein product		610925			NA	11706037	Standard	NM_032732	NM_153460	NA	Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.1574C>T	3.37:g.9972601C>T	ENSP00000295981:p.Ala525Val	NA	Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	37	CCDS2590.1	.	.	.	.	.	.	.	.	.	.	C	0.679	-0.798909	0.02841	.	.	ENSG00000163702	ENST00000383812;ENST00000295981;ENST00000403601;ENST00000416074;ENST00000455057;ENST00000413608	T;T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13;2.13	4.55	2.51	0.30379	.	0.247503	0.28647	N	0.014618	T	0.13286	0.0322	L	0.43152	1.355	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.29627	0.078;0.054;0.026;0.026;0.04;0.032;0.043;0.231;0.252	B;B;B;B;B;B;B;B;B	0.21151	0.012;0.007;0.005;0.005;0.003;0.003;0.012;0.013;0.033	T	0.27191	-1.0081	10	0.13853	T	0.58	-2.586	7.2918	0.26370	0.0:0.7655:0.0:0.2345	.	439;293;422;437;454;293;439;525;454	Q8NAC3-4;F5H4Z2;E9PHG1;A8BWD5;E9PHJ6;B4E008;Q8NAC3-3;Q8NAC3;Q8NAC3-2	.;.;.;.;.;.;.;I17RC_HUMAN;.	V	439;525;454;293;422;454	ENSP00000373323:A439V;ENSP00000295981:A525V;ENSP00000384969:A454V;ENSP00000395315:A293V;ENSP00000407894:A422V;ENSP00000396064:A454V	ENSP00000295981:A525V	A	+	2	0	IL17RC	9947601	0.004000	0.15560	0.029000	0.17559	0.314000	0.28054	0.208000	0.17415	0.494000	0.27859	0.462000	0.41574	GCG	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250526.2		+	ENST00000295981.3	Missense_Mutation	SNP	3 : 9972601 - 9972601 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	896	163
KIAA0195	9772	broad.mit.edu	37	17	73494356	73494356	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73494356G>T	ENST00000314256.7	+	28	3984	c.3590G>T	c.(3589-3591)aGc>aTc	p.S1197I	KIAA0195_ENST00000579208.1_Missense_Mutation_p.S848I|KIAA0195_ENST00000375248.5_Missense_Mutation_p.S1207I	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1197					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTCTGTGACAGCTCCCGGGAC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	85	92			NA	NA	17		NA											NA				73494356		2203	4300	6503	SO:0001583	missense				CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728	9772	9772			28983	protein-coding gene	gene with protein product					NA	8724849	Standard	NM_014738	NM_014738	NA	Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.3590G>T	17.37:g.73494356G>T	ENSP00000313885:p.Ser1197Ile	NA	O75536|Q86XF1	37	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	G	5.204	0.223097	0.09863	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.96300	-3.97;-3.97	5.58	2.12	0.27331	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.295187	0.38897	N	0.001525	D	0.83184	0.5199	N	0.02011	-0.69	0.09310	N	1	B;B;B;B	0.12630	0.0;0.001;0.006;0.001	B;B;B;B	0.11329	0.001;0.001;0.006;0.001	T	0.72121	-0.4386	10	0.16420	T	0.52	-15.048	1.103	0.01688	0.1932:0.1406:0.3847:0.2815	.	1207;1207;1197;1197	B4DGC6;C9JL75;Q12767-2;Q12767	.;.;.;K0195_HUMAN	I	1197;1207	ENSP00000313885:S1197I;ENSP00000364397:S1207I	ENSP00000313885:S1197I	S	+	2	0	KIAA0195	71005951	0.013000	0.17824	0.950000	0.38849	0.072000	0.16883	0.325000	0.19628	1.370000	0.46153	0.313000	0.20887	AGC	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447303.1		+	ENST00000314256.7	Missense_Mutation	SNP	17 : 73494356 - 73494356 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	433	81
LST1	7940	broad.mit.edu	37	6	31555449	31555449	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31555449C>T	ENST00000396101.3	+	2	51	c.51C>T	c.(49-51)ggC>ggT	p.G17G	LST1_ENST00000376102.3_Missense_Mutation_p.A12V|LST1_ENST00000303757.8_Silent_p.G17G|LST1_ENST00000211921.7_Intron|LST1_ENST00000418507.2_Intron|LST1_ENST00000376096.1_Intron|LST1_ENST00000419073.1_3'UTR|LST1_ENST00000376110.3_Intron|LST1_ENST00000376093.2_Silent_p.G17G|LST1_ENST00000376089.2_Intron|LST1_ENST00000376111.4_5'UTR|LST1_ENST00000376099.1_Intron|LST1_ENST00000438075.2_Silent_p.G17G|LST1_ENST00000376086.3_Intron|LST1_ENST00000376100.3_Intron|LST1_ENST00000376092.3_Intron|LST1_ENST00000376090.2_Intron|LST1_ENST00000339530.4_Silent_p.G17G			O00453	LST1_HUMAN	leukocyte specific transcript 1	17					cell morphogenesis|dendrite development|immune response|negative regulation of lymphocyte proliferation|regulation of cell shape	Golgi membrane|integral to membrane	protein binding			large_intestine(1)	1						TGGGGCTGGGCGGGCTCCTGC	0.622		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	6		NA											NA				31555449		1970	4129	6099	SO:0001819	synonymous_variant			U00921	CCDS4705.1, CCDS43450.1, CCDS4705.2, CCDS43450.2, CCDS54984.1, CCDS54985.1, CCDS54986.1, CCDS54987.1	6p21.3	2008-08-29		2002-08-09	ENSG00000204482	ENSG00000204482	7940	7940			14189	protein-coding gene	gene with protein product		109170			NA	8824804, 9367684	Standard		NM_001166538	NA	Approved	LST-1, B144, D6S49E	uc010jss.2	O00453	OTTHUMG00000031264	ENST00000396101.3:c.51C>T	6.37:g.31555449C>T		NA	B0S8E0|B0S8E1|B0S8E5|O00452|O00454|Q13669|Q5STA7|Q5STW6|Q9UJR5|Q9UJR6|Q9UJR7|Q9UJR8|Q9UJS1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.45|15.45	2.836292|2.836292	0.50951|0.50951	.|.	.|.	ENSG00000204482|ENSG00000204482	ENST00000376102;ENST00000490742|ENST00000464044	.|.	.|.	.|.	4.47|4.47	-6.2|-6.2	0.02072|0.02072	.|.	.|.	.|.	.|.	.|.	T|T	0.05547|0.05547	0.0146|0.0146	.|.	.|.	.|.	0.19575|0.19575	N|N	0.999963|0.999963	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.26573|0.26573	-1.0099|-1.0099	5|4	0.49607|.	T|.	0.09|.	-1.2514|-1.2514	2.0882|2.0882	0.03650|0.03650	0.4647:0.2332:0.1878:0.1142|0.4647:0.2332:0.1878:0.1142	.|.	.|.	.|.	.|.	V|W	12|2	.|.	ENSP00000365270:A12V|.	A|R	+|+	2|1	0|2	LST1|LST1	31663428|31663428	0.361000|0.361000	0.24972|0.24972	0.007000|0.007000	0.13788|0.13788	0.025000|0.025000	0.11179|0.11179	-1.107000|-1.107000	0.03316|0.03316	-1.669000|-1.669000	0.01470|0.01470	-2.070000|-2.070000	0.00385|0.00385	GCG|CGG	LST1-023	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000259315.4		+	ENST00000396101.3	Silent	SNP	6 : 31555449 - 31555449 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	56	11
AP3B2	8120	broad.mit.edu	37	15	83346884	83346884	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:83346884G>A	ENST00000535348.1	-	10	1194	c.1122C>T	c.(1120-1122)aaC>aaT	p.N374N	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000261722.3_Silent_p.N406N|AP3B2_ENST00000535359.1_Silent_p.N406N	NM_001278511.1	NP_001265440.1	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	406					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CAGTAGGAATGTTGGTCTCAT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	49	50			NA	NA	15		NA											NA				83346884		1943	4146	6089	SO:0001819	synonymous_variant			U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723	8120	8120			567	protein-coding gene	gene with protein product		602166			NA	7671305, 1851215	Standard		NM_004644	NA	Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000535348.1:c.1122C>T	15.37:g.83346884G>A		NA	O14808|Q52LY8	37																																																																																				AP3B2-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000397466.1		-	ENST00000535348.1	Silent	SNP	15 : 83346884 - 83346884 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	146	32
BANP	54971	broad.mit.edu	37	16	88039849	88039849	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88039849G>T	ENST00000393207.1	+	6	830	c.609G>T	c.(607-609)acG>acT	p.T203T	BANP_ENST00000393208.2_Silent_p.T172T|BANP_ENST00000479780.2_Silent_p.T172T|BANP_ENST00000538234.1_Silent_p.T211T|BANP_ENST00000355163.5_Silent_p.T178T|BANP_ENST00000286122.7_Silent_p.T203T|BANP_ENST00000355022.4_Silent_p.T172T	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	203	Interaction with CUX1 and HDAC1 (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		GCAACGTCACGCTCATCACCC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	75	75			NA	NA	16		NA											NA				88039849		2198	4300	6498	SO:0001819	synonymous_variant			AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530	54971	54971		BEN domain containing	13450	protein-coding gene	gene with protein product	BEN domain containing 1	611564			NA	10940556, 10950932	Standard	NM_017869	NM_017869	NA	Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.609G>T	16.37:g.88039849G>T		NA	A8MU25|A8MX25|Q96GJ7|Q9NWY1	37	CCDS54054.1																																																																																			BANP-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269166.1		+	ENST00000393207.1	Silent	SNP	16 : 88039849 - 88039849 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	763	199
WWC1	23286	broad.mit.edu	37	5	167833206	167833206	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167833206C>T	ENST00000265293.4	+	6	1096	c.594C>T	c.(592-594)atC>atT	p.I198I	WWC1_ENST00000521089.1_Silent_p.I198I	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	198					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CTCCTAGAATCGATAAGAAAA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	118	122			NA	NA	5		NA											NA				167833206		2203	4300	6503	SO:0001819	synonymous_variant			AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645	23286	23286		WW, C2 and coiled-coil domain containing	29435	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 168	610533	WW, C2 and coiled-coil domain containing 1		NA	10048485, 12559952	Standard	NM_015238	NM_001161661	NA	Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.594C>T	5.37:g.167833206C>T		NA	O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	37	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.317446	0.23908	.	.	ENSG00000113645	ENST00000393895	.	.	.	5.45	3.39	0.38822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.0813	0.09927	0.0:0.472:0.0:0.528	.	.	.	.	X	160	.	.	R	+	1	2	WWC1	167765784	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	0.431000	0.21444	1.284000	0.44531	0.561000	0.74099	CGA	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252791.2		+	ENST00000265293.4	Silent	SNP	5 : 167833206 - 167833206 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	618	102
BTAF1	9044	broad.mit.edu	37	10	93713536	93713536	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93713536G>T	ENST00000265990.6	+	6	915	c.607G>T	c.(607-609)Gga>Tga	p.G203*		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	203					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GTTTCGAGCAGGAATGAGCAA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	138	136			NA	NA	10		NA											NA				93713536		2203	4300	6503	SO:0001587	stop_gained			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564	9044	9044			17307	protein-coding gene	gene with protein product	Mot1 homolog (S. cerevisiae)	605191	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)		NA	9342322, 9488487	Standard	NM_003972	NM_003972	NA	Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.607G>T	10.37:g.93713536G>T	ENSP00000265990:p.Gly203*	NA	O43578	37	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	40	8.164873	0.98686	.	.	ENSG00000095564	ENST00000265990	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-20.5445	19.7205	0.96142	0.0:0.0:1.0:0.0	.	.	.	.	X	203	.	ENSP00000265990:G203X	G	+	1	0	BTAF1	93703516	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.759000	0.98931	2.723000	0.93209	0.585000	0.79938	GGA	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049380.4		+	ENST00000265990.6	Nonsense_Mutation	SNP	10 : 93713536 - 93713536 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	713	151
FAM105A	54491	broad.mit.edu	37	5	14601224	14601224	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14601224A>G	ENST00000274217.3	+	2	335	c.215A>G	c.(214-216)aAg>aGg	p.K72R		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	72										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TCAGGGCACAAGCTGAAATGG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													182	172	175			NA	NA	5		NA											NA				14601224		2203	4300	6503	SO:0001583	missense				CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569	54491	54491		OTU domain containing	25629	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_019018	NM_019018	NA	Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.215A>G	5.37:g.14601224A>G	ENSP00000274217:p.Lys72Arg	NA	Q53H50|Q9H037	37	CCDS3884.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.694862	0.00731	.	.	ENSG00000145569	ENST00000274217	T	0.16743	2.32	5.35	-0.0825	0.13697	.	0.956413	0.08727	N	0.902566	T	0.04588	0.0125	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41734	-0.9492	10	0.07175	T	0.84	-3.3211	4.9693	0.14108	0.4692:0.0:0.384:0.1468	.	72	Q9NUU6	F105A_HUMAN	R	72	ENSP00000274217:K72R	ENSP00000274217:K72R	K	+	2	0	FAM105A	14654224	0.229000	0.23729	0.020000	0.16555	0.167000	0.22549	1.067000	0.30616	-0.256000	0.09473	-0.408000	0.06270	AAG	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253710.1		+	ENST00000274217.3	Missense_Mutation	SNP	5 : 14601224 - 14601224 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	884	138
CDH18	1016	broad.mit.edu	37	5	19612635	19612635	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:19612635T>G	ENST00000506372.1	-	6	1230	c.719A>C	c.(718-720)gAc>gCc	p.D240A	CDH18_ENST00000382275.1_Missense_Mutation_p.D240A|CDH18_ENST00000511273.1_Missense_Mutation_p.D240A|CDH18_ENST00000507958.1_Missense_Mutation_p.D240A|CDH18_ENST00000502796.1_Missense_Mutation_p.D240A|CDH18_ENST00000274170.4_Missense_Mutation_p.D240A			Q13634	CAD18_HUMAN	cadherin 18, type 2	240	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCCAGCCATGTCTTTGGCTTG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	132	136			NA	NA	5		NA											NA				19612635		2203	4300	6503	SO:0001583	missense			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526	1016	1016		Cadherins / Major cadherins	1757	protein-coding gene	gene with protein product		603019			NA	9030594, 10191097	Standard	NM_004934	NM_004934	NA	Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000506372.1:c.719A>C	5.37:g.19612635T>G	ENSP00000424931:p.Asp240Ala	NA	A8K0I2|Q8N5Z2	37		.	.	.	.	.	.	.	.	.	.	T	26.5	4.746706	0.89663	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.95	5.95	0.96441	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.87928	0.6301	H	0.96861	3.895	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91748	0.5410	9	.	.	.	.	15.2309	0.73386	0.0:0.0:0.0:1.0	.	240;240	B4DHG6;Q13634	.;CAD18_HUMAN	A	240;240;240;240;240;240;186;240	ENSP00000371710:D240A;ENSP00000425093:D240A;ENSP00000274170:D240A;ENSP00000424931:D240A;ENSP00000422138:D240A;ENSP00000427383:D186A;ENSP00000425854:D240A	.	D	-	2	0	CDH18	19648392	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.890000	0.87313	2.272000	0.75746	0.460000	0.39030	GAC	CDH18-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000366746.1		-	ENST00000506372.1	Missense_Mutation	SNP	5 : 19612635 - 19612635 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	60
CXorf48	0	broad.mit.edu	37	X	134305013	134305013	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:134305013C>T	ENST00000344129.2	-	1	309	c.83G>A	c.(82-84)gGc>gAc	p.G28D	CXorf48_ENST00000276241.6_Missense_Mutation_p.G28D	NM_017863.2	NP_060333.1	Q8WUE5	CX048_HUMAN		28										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					TTGTGGGAGGCCCTGCTGCTG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	90	95			NA	NA	X		NA											NA				134305013		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000344129.2:c.83G>A	X.37:g.134305013C>T	ENSP00000343893:p.Gly28Asp	NA	Q9NWY8	37	CCDS14647.1	.	.	.	.	.	.	.	.	.	.	C	0.061	-1.224414	0.01530	.	.	ENSG00000169551	ENST00000276241;ENST00000344129	T;T	0.32023	1.47;1.47	2.25	-4.51	0.03483	.	.	.	.	.	T	0.20129	0.0484	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24119	-1.0169	9	0.20046	T	0.44	0.5962	10.7492	0.46198	0.0:0.1935:0.0:0.8065	.	28	Q8WUE5	CX048_HUMAN	D	28	ENSP00000276241:G28D;ENSP00000343893:G28D	ENSP00000276241:G28D	G	-	2	0	CXorf48	134132679	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.702000	0.05069	-2.067000	0.00885	-1.004000	0.02495	GGC	CXorf48-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058403.1		-	ENST00000344129.2	Missense_Mutation	SNP	X : 134305013 - 134305013 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	347	87
SERPINB13	5275	broad.mit.edu	37	18	61261692	61261692	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61261692G>T	ENST00000344731.5	+	6	678	c.576G>T	c.(574-576)aaG>aaT	p.K192N	SERPINB13_ENST00000269489.5_Missense_Mutation_p.K192N	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	192					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GGGAGTTTAAGAAAGAAAATA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	90	91			NA	NA	18		NA											NA				61261692		2203	4300	6503	SO:0001583	missense			AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641	5275	5275		Serine (or cysteine) peptidase inhibitors	8944	protein-coding gene	gene with protein product		604445	serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13	PI13	NA	9297979, 10512713, 24172014	Standard	NM_012397	NM_012397	NA	Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.576G>T	18.37:g.61261692G>T	ENSP00000341584:p.Lys192Asn	NA	Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	37	CCDS11985.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.451689	0.26074	.	.	ENSG00000197641	ENST00000269489;ENST00000539341;ENST00000344731	D;D	0.83992	-1.79;-1.56	5.73	0.181	0.15073	Serpin domain (3);	0.108239	0.41294	N	0.000918	T	0.77618	0.4157	N	0.26042	0.785	0.32915	D	0.515049	P;B;D	0.89917	0.685;0.011;1.0	B;B;D	0.87578	0.381;0.015;0.998	T	0.74990	-0.3475	10	0.06099	T	0.92	.	4.2783	0.10820	0.2794:0.0:0.2086:0.512	.	201;110;192	B7ZKV6;F5GZ40;Q9UIV8	.;.;SPB13_HUMAN	N	192;110;192	ENSP00000269489:K192N;ENSP00000341584:K192N	ENSP00000269489:K192N	K	+	3	2	SERPINB13	59412672	0.000000	0.05858	0.998000	0.56505	0.995000	0.86356	-0.849000	0.04322	0.135000	0.18707	0.655000	0.94253	AAG	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000133798.1		+	ENST00000344731.5	Missense_Mutation	SNP	18 : 61261692 - 61261692 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	417	54
ZIC1	7545	broad.mit.edu	37	3	147128517	147128517	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147128517G>A	ENST00000282928.4	+	1	1347	c.618G>A	c.(616-618)gcG>gcA	p.A206A		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	206					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						ACATGGCCGCGCATCACGGCG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	45	44			NA	NA	3		NA											NA				147128517		2203	4300	6503	SO:0001819	synonymous_variant			D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977	7545	7545		Zinc fingers, C2H2-type	12872	protein-coding gene	gene with protein product		600470	Zic family member 1 (odd-paired Drosophila homolog), Zic family member 1 (odd-paired homolog, Drosophila)		NA	8542595	Standard	NM_003412	NM_003412	NA	Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.618G>A	3.37:g.147128517G>A		NA	Q2M3N1	37	CCDS3136.1																																																																																			ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355497.1		+	ENST00000282928.4	Silent	SNP	3 : 147128517 - 147128517 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	70
RIF1	55183	broad.mit.edu	37	2	152311610	152311610	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152311610C>A	ENST00000243326.5	+	21	3029	c.2546C>A	c.(2545-2547)tCt>tAt	p.S849Y	RIF1_ENST00000444746.2_Missense_Mutation_p.S849Y|RIF1_ENST00000430328.2_Missense_Mutation_p.S849Y|RIF1_ENST00000428287.2_Missense_Mutation_p.S849Y|RIF1_ENST00000453091.2_Missense_Mutation_p.S849Y			Q5UIP0	RIF1_HUMAN	replication timing regulatory factor 1	NA					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TCTTTGCCTTCTATGATCCGA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	111	112			NA	NA	2		NA											NA				152311610		2203	4300	6503	SO:0001583	missense			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345	55183	55183			23207	protein-coding gene	gene with protein product		608952	RAP1 interacting factor homolog (yeast)		NA	15342490, 15042697, 22850674	Standard		NM_018151	NA	Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.2546C>A	2.37:g.152311610C>A	ENSP00000243326:p.Ser849Tyr	NA	A6NC27|C9JBR1|Q5H9R3|Q5UIP2|Q66YK6|Q6PRU2|Q8TE94|Q99772|Q9H830|Q9H9B9|Q9NVP5|Q9Y4R4	37	CCDS2194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.62|19.62	3.861107|3.861107	0.71949|0.71949	.|.	.|.	ENSG00000080345|ENSG00000080345	ENST00000414861|ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	.|T;T;T;T;T	.|0.68331	.|-0.32;-0.32;-0.32;-0.32;-0.32	5.55|5.55	4.68|4.68	0.58851|0.58851	.|.	.|0.189056	.|0.46758	.|D	.|0.000273	T|T	0.79845|0.79845	0.4516|0.4516	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.994;0.999	T|T	0.81998|0.81998	-0.0675|-0.0675	5|10	.|0.72032	.|D	.|0.01	-5.8134|-5.8134	14.3304|14.3304	0.66553|0.66553	0.0:0.9276:0.0:0.0724|0.0:0.9276:0.0:0.0724	.|.	.|849;849	.|Q5UIP0;Q5UIP0-2	.|RIF1_HUMAN;.	L|Y	840|849	.|ENSP00000390181:S849Y;ENSP00000414615:S849Y;ENSP00000415691:S849Y;ENSP00000243326:S849Y;ENSP00000416123:S849Y	.|ENSP00000243326:S849Y	F|S	+|+	3|2	2|0	RIF1|RIF1	152019856|152019856	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	3.074000|3.074000	0.50065|0.50065	1.349000|1.349000	0.45751|0.45751	0.655000|0.655000	0.94253|0.94253	TTC|TCT	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254836.3		+	ENST00000243326.5	Missense_Mutation	SNP	2 : 152311610 - 152311610 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	694	123
POLR3B	55703	broad.mit.edu	37	12	106772100	106772100	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:106772100G>A	ENST00000228347.4	+	8	774	c.552G>A	c.(550-552)ctG>ctA	p.L184L	POLR3B_ENST00000539066.1_Silent_p.L126L	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	184					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						AAGAGCAGCTGTCTAAGAACA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	146	148			NA	NA	12		NA											NA				106772100		2203	4300	6503	SO:0001819	synonymous_variant			AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503	55703	55703		RNA polymerase subunits	30348	protein-coding gene	gene with protein product		614366			NA	12391170	Standard	NM_018082	NM_018082	NA	Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.552G>A	12.37:g.106772100G>A		NA	A8K6H0|Q9NW59	37	CCDS9105.1																																																																																			POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407166.1		+	ENST00000228347.4	Silent	SNP	12 : 106772100 - 106772100 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	529	105
CNTLN	54875	broad.mit.edu	37	9	17298326	17298326	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:17298326A>G	ENST00000380647.3	+	7	1206	c.1122A>G	c.(1120-1122)acA>acG	p.T374T	CNTLN_ENST00000380641.4_Silent_p.T374T|CNTLN_ENST00000262360.5_Silent_p.T374T|CNTLN_ENST00000425824.1_Silent_p.T374T			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	374						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		ATGTTCACACAGCTGAAAGTA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	67	68			NA	NA	9		NA											NA				17298326		1883	4109	5992	SO:0001819	synonymous_variant			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459	54875	54875			23432	protein-coding gene	gene with protein product		611870	chromosome 9 open reading frame 101, chromosome 9 open reading frame 39	C9orf101, C9orf39	NA	18086554	Standard	NM_017738	XM_005251492	NA	Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.1122A>G	9.37:g.17298326A>G		NA	A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	37	CCDS43789.1																																																																																			CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051793.3		+	ENST00000380647.3	Silent	SNP	9 : 17298326 - 17298326 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	231	33
NCKAP1	10787	broad.mit.edu	37	2	183793529	183793529	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183793529A>G	ENST00000361354.4	-	28	3424	c.3052T>C	c.(3052-3054)Tac>Cac	p.Y1018H	NCKAP1_ENST00000360982.2_Missense_Mutation_p.Y1024H|NCKAP1_ENST00000478449.1_5'UTR	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	NA					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GCAGGGCTGTACTGAGACATC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	83	84			NA	NA	2		NA											NA				183793529		2203	4299	6502	SO:0001583	missense			AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676	10787	10787			7666	protein-coding gene	gene with protein product		604891			NA	10673335, 12181570, 9344857	Standard	NM_205842	NM_013436	NA	Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.3052T>C	2.37:g.183793529A>G	ENSP00000355348:p.Tyr1018His	NA	O60329|Q53QN5|Q53S94|Q53Y35	37	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.113469	0.77210	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.51071	0.72;0.72	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.72128	0.3422	M	0.84433	2.695	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.983	T	0.77611	-0.2523	10	0.87932	D	0	-11.5344	15.8359	0.78796	1.0:0.0:0.0:0.0	.	1018;1024	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	H	1018;1024	ENSP00000355348:Y1018H;ENSP00000354251:Y1024H	ENSP00000354251:Y1024H	Y	-	1	0	NCKAP1	183501774	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	9.229000	0.95273	2.206000	0.71126	0.383000	0.25322	TAC	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255867.2		-	ENST00000361354.4	Missense_Mutation	SNP	2 : 183793529 - 183793529 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	388	87
SYNE1	23345	broad.mit.edu	37	6	152457923	152457923	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152457923C>T	ENST00000367255.5	-	141	26090	c.25489G>A	c.(25489-25491)Gcc>Acc	p.A8497T	SYNE1_ENST00000423061.1_Missense_Mutation_p.A8449T|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Missense_Mutation_p.A8109T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A8449T|SYNE1_ENST00000539504.1_Missense_Mutation_p.A652T|SYNE1_ENST00000354674.4_Missense_Mutation_p.A675T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A8497T|SYNE1_ENST00000356820.4_Missense_Mutation_p.A3021T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8497					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGGATGATGGCTTTGCGGTGG	0.483		NA								HNSCC(10;0.0054)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	95	96			NA	NA	6		NA											NA				152457923		2203	4300	6503	SO:0001583	missense			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018	23345	23345			17089	protein-coding gene	gene with protein product	myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1	608441	chromosome 6 open reading frame 98	C6orf98	NA	9872452, 10878022	Standard	NM_182961	NM_182961	NA	Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.25489G>A	6.37:g.152457923C>T	ENSP00000356224:p.Ala8497Thr	NA	O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812412	0.90707	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.61	5.61	0.85477	.	0.000000	0.52532	D	0.000078	T	0.59702	0.2213	M	0.73598	2.24	0.51012	D	0.999903	D;D;D;D;P	0.60160	0.987;0.987;0.984;0.987;0.553	P;P;P;P;B	0.58660	0.843;0.843;0.757;0.843;0.256	T	0.59043	-0.7528	10	0.44086	T	0.13	.	19.6248	0.95674	0.0:1.0:0.0:0.0	.	8497;8497;8449;8449;699	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	T	8497;652;1143;8449;8497;8449;8109;3021;682;677;1442;675	ENSP00000356224:A8497T;ENSP00000441052:A652T;ENSP00000356226:A1143T;ENSP00000396024:A8449T;ENSP00000265368:A8497T;ENSP00000390975:A8449T;ENSP00000341887:A8109T;ENSP00000349276:A3021T;ENSP00000356220:A1442T;ENSP00000346701:A675T	ENSP00000265368:A8497T	A	-	1	0	SYNE1	152499616	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.886000	0.63149	2.623000	0.88846	0.655000	0.94253	GCC	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334755.2		-	ENST00000367255.5	Missense_Mutation	SNP	6 : 152457923 - 152457923 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	469	73
CROCC	9696	broad.mit.edu	37	1	17281989	17281989	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17281989G>T	ENST00000375541.5	+	24	3717	c.3648G>T	c.(3646-3648)cgG>cgT	p.R1216R		NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1216					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGGCCCTGCGGCGTTCCAATG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	13	16			NA	NA	1		NA											NA				17281989		2160	4259	6419	SO:0001819	synonymous_variant			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453	9696	9696			21299	protein-coding gene	gene with protein product	rootletin, ciliary rootlet protein	615776			NA	12427867, 17971504	Standard	NM_014675	XM_006711056	NA	Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.3648G>T	1.37:g.17281989G>T		NA	Q2VHY3|Q66GT7|Q7Z2L4|Q7Z5D7	37	CCDS30616.1																																																																																			CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006249.2		+	ENST00000375541.5	Silent	SNP	1 : 17281989 - 17281989 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	60	5
FRMD7	90167	broad.mit.edu	37	X	131228097	131228097	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:131228097C>T	ENST00000298542.4	-	5	530	c.355G>A	c.(355-357)Gcg>Acg	p.A119T	FRMD7_ENST00000370879.1_5'UTR|FRMD7_ENST00000464296.1_Missense_Mutation_p.A104T	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	119	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					ACCATCAACGCTGTACAGTTG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													204	168	180			NA	NA	X		NA											NA				131228097		2203	4300	6503	SO:0001583	missense			AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694	90167	90167			8079	protein-coding gene	gene with protein product		300628	nystagmus 1, congenital	NYS, NYS1	NA	2063919, 17013395	Standard	NM_194277	NM_194277	NA	Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.355G>A	X.37:g.131228097C>T	ENSP00000298542:p.Ala119Thr	NA	C0LLJ3|Q5JX99	37	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	C	31	5.077177	0.94000	.	.	ENSG00000165694	ENST00000298542;ENST00000464296	T;T	0.78246	-1.16;-1.16	5.13	5.13	0.70059	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.88164	0.6363	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89541	0.3792	10	0.66056	D	0.02	.	16.8125	0.85724	0.0:1.0:0.0:0.0	.	104;119	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	T	119;104	ENSP00000298542:A119T;ENSP00000417996:A104T	ENSP00000298542:A119T	A	-	1	0	FRMD7	131055778	1.000000	0.71417	0.991000	0.47740	0.960000	0.62799	5.685000	0.68204	2.262000	0.75019	0.529000	0.55759	GCG	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355031.1		-	ENST00000298542.4	Missense_Mutation	SNP	X : 131228097 - 131228097 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	604	127
CARM1	10498	broad.mit.edu	37	19	11019791	11019791	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11019791C>A	ENST00000327064.4	+	4	656	c.466C>A	c.(466-468)Ctg>Atg	p.L156M	CARM1_ENST00000344150.4_Missense_Mutation_p.L156M	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	156					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TTATGGCTACCTGTCCCAGCA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	75	86			NA	NA	19		NA											NA				11019791		2203	4300	6503	SO:0001583	missense			AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453	10498	10498		Protein arginine methyltransferases	23393	protein-coding gene	gene with protein product		603934			NA	10381882, 11724789	Standard	XM_032719	NM_199141	NA	Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.466C>A	19.37:g.11019791C>A	ENSP00000325690:p.Leu156Met	NA	A6NN38	37	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435501	0.83885	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.23950	1.88;1.88	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000001	T	0.50667	0.1629	M	0.80183	2.485	0.80722	D	1	D	0.56968	0.978	D	0.67725	0.953	T	0.52786	-0.8529	10	0.59425	D	0.04	-2.8926	12.3792	0.55297	0.0:0.9184:0.0:0.0816	.	156	Q86X55	CARM1_HUMAN	M	156	ENSP00000325690:L156M;ENSP00000340934:L156M	ENSP00000325690:L156M	L	+	1	2	CARM1	10880791	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.558000	0.60789	2.593000	0.87608	0.655000	0.94253	CTG	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452625.1		+	ENST00000327064.4	Missense_Mutation	SNP	19 : 11019791 - 11019791 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	57
UBA2	10054	broad.mit.edu	37	19	34957800	34957800	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34957800A>G	ENST00000439527.2	+	16	1832	c.1334A>G	c.(1333-1335)gAc>gGc	p.D445G	UBA2_ENST00000592791.1_Missense_Mutation_p.D67G|UBA2_ENST00000246548.4_Missense_Mutation_p.D541G			Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	541					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity	p.D541V(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CTAGGAAAGGACGTTGAATTT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											75	73	74			NA	NA	19		NA											NA				34957800		2203	4300	6503	SO:0001583	missense			BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261	10054	10054		Ubiquitin-like modifier activating enzymes	30661	protein-coding gene	gene with protein product	UBA2, ubiquitin-activating enzyme E1 homolog (yeast)	613295	SUMO1 activating enzyme subunit 2	SAE2	NA	10187858, 9920803	Standard	NM_005499	NM_005499	NA	Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000439527.2:c.1334A>G	19.37:g.34957800A>G	ENSP00000437484:p.Asp445Gly	NA	O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	37		.	.	.	.	.	.	.	.	.	.	A	24.5	4.543855	0.86022	.	.	ENSG00000126261	ENST00000246548;ENST00000439527	T;T	0.61040	0.14;1.3	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.57330	0.2046	M	0.65975	2.015	0.80722	D	1	B	0.32653	0.379	B	0.31686	0.134	T	0.61950	-0.6957	10	0.66056	D	0.02	-19.6184	14.8649	0.70406	1.0:0.0:0.0:0.0	.	541	Q9UBT2	SAE2_HUMAN	G	541;445	ENSP00000246548:D541G;ENSP00000437484:D445G	ENSP00000246548:D541G	D	+	2	0	UBA2	39649640	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.479000	0.90431	2.213000	0.71641	0.455000	0.32223	GAC	UBA2-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000459375.1		+	ENST00000439527.2	Missense_Mutation	SNP	19 : 34957800 - 34957800 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	243	35
BMP3	651	broad.mit.edu	37	4	81967122	81967122	+	Missense_Mutation	SNP	C	C	A	rs147415195		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:81967122C>A	ENST00000282701.2	+	2	867	c.547C>A	c.(547-549)Ctg>Atg	p.L183M		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	183					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CCTTGGCCATCTGTCAGTGGA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	156	156			NA	NA	4		NA											NA				81967122		2203	4300	6503	SO:0001583	missense			M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785	651	651		Bone morphogenetic proteins	1070	protein-coding gene	gene with protein product	osteogenin	112263	bone morphogenetic protein 3 (osteogenic)		NA		Standard		NM_001201	NA	Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.547C>A	4.37:g.81967122C>A	ENSP00000282701:p.Leu183Met	NA	Q4VAS5	37	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.458660	0.26248	.	.	ENSG00000152785	ENST00000282701	T	0.64438	-0.1	4.84	2.98	0.34508	Transforming growth factor-beta, N-terminal (1);	0.162830	0.56097	D	0.000038	T	0.65270	0.2675	M	0.70275	2.135	0.28301	N	0.923107	D	0.60575	0.988	P	0.55923	0.787	T	0.59473	-0.7448	10	0.40728	T	0.16	.	2.6952	0.05133	0.2072:0.4839:0.0:0.3089	.	183	P12645	BMP3_HUMAN	M	183	ENSP00000282701:L183M	ENSP00000282701:L183M	L	+	1	2	BMP3	82186146	1.000000	0.71417	0.986000	0.45419	0.026000	0.11368	3.579000	0.53900	1.412000	0.46977	0.655000	0.94253	CTG	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252634.1		+	ENST00000282701.2	Missense_Mutation	SNP	4 : 81967122 - 81967122 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1013	154
CBX1	10951	broad.mit.edu	37	17	46154252	46154252	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46154252G>A	ENST00000393408.3	-	2	595	c.115C>T	c.(115-117)Ctc>Ttc	p.L39F	CBX1_ENST00000495350.1_Missense_Mutation_p.L39F|CBX1_ENST00000225603.4_Missense_Mutation_p.L39F	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	39	Chromo 1.					nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						CACTTTAGGAGGTACTCCACT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(136;694 2497 38792 39034)							NA				0													280	231	248			NA	NA	17		NA											NA				46154252		2203	4300	6503	SO:0001583	missense			U35451	CCDS11525.1	17q21.32	2010-07-06	2010-06-24		ENSG00000108468	ENSG00000108468	10951	10951			1551	protein-coding gene	gene with protein product	HP1 beta homolog (Drosophila )	604511	chromobox homolog 1 (Drosophila HP1 beta)		NA	9169582	Standard	NM_006807	NM_001127228	NA	Approved	HP1Hs-beta, M31, MOD1, CBX, HP1-BETA	uc002ind.4	P83916	OTTHUMG00000150417	ENST00000393408.3:c.115C>T	17.37:g.46154252G>A	ENSP00000377060:p.Leu39Phe	NA	P23197	37	CCDS11525.1	.	.	.	.	.	.	.	.	.	.	G	8.936	0.964686	0.18583	.	.	ENSG00000108468	ENST00000225603;ENST00000393408;ENST00000402583;ENST00000444685	D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71	5.85	4.88	0.63580	Chromo domain (1);Chromo domain subgroup (1);Chromo domain-like (1);Chromo domain/shadow (2);Chromo domain, conserved site (1);	0.000000	0.64402	U	0.000008	T	0.73690	0.3619	L	0.32530	0.975	0.80722	D	1	B	0.16603	0.018	B	0.20767	0.031	T	0.66791	-0.5834	10	0.10902	T	0.67	-11.6346	14.0385	0.64660	0.0739:0.0:0.9261:0.0	.	39	P83916	CBX1_HUMAN	F	39	ENSP00000225603:L39F;ENSP00000377060:L39F;ENSP00000385413:L39F;ENSP00000393179:L39F	ENSP00000225603:L39F	L	-	1	0	CBX1	43509251	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.835000	0.99442	1.478000	0.48253	0.655000	0.94253	CTC	CBX1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318016.1		-	ENST00000393408.3	Missense_Mutation	SNP	17 : 46154252 - 46154252 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	794	140
SLCO4A1	28231	broad.mit.edu	37	20	61303134	61303134	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61303134C>T	ENST00000370507.1	+	11	2154	c.2058C>T	c.(2056-2058)tgC>tgT	p.C686C	SLCO4A1_ENST00000217159.1_Silent_p.C686C			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	686					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			CCATAGCCTGCTTCTTATACA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(168;741 2006 10379 40139 45334)							NA				0													97	96	97			NA	NA	20		NA											NA				61303134		2203	4300	6503	SO:0001819	synonymous_variant			AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187	28231	28231		Solute carriers	10953	protein-coding gene	gene with protein product		612436	solute carrier family 21 (organic anion transporter), member 12	SLC21A12	NA	10873595	Standard	NM_016354	NM_016354	NA	Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.2058C>T	20.37:g.61303134C>T		NA	Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	37	CCDS13501.1																																																																																			SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080048.2		+	ENST00000370507.1	Silent	SNP	20 : 61303134 - 61303134 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	903	77
CES3	23491	broad.mit.edu	37	16	67006910	67006910	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67006910G>A	ENST00000543856.1	+	6	1037	c.591G>A	c.(589-591)tgG>tgA	p.W197*	CES3_ENST00000303334.4_Nonsense_Mutation_p.W558*|CES3_ENST00000394037.1_Nonsense_Mutation_p.W555*	NM_001185176.1	NP_001172105.1	Q6UWW8	EST3_HUMAN	carboxylesterase 3	558						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		TACAACAGTGGCACCAGAAGC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	64	67			NA	NA	16		NA											NA				67006910		2200	4300	6500	SO:0001587	stop_gained			AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828	23491	23491		Carboxylesterases	1865	protein-coding gene	gene with protein product	esterase 31, brain carboxylesterase BR3	605279	carboxylesterase 3 (brain)		NA	10518925, 14581373, 15100172, 20931200	Standard	NM_024922	NM_001185176	NA	Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000543856.1:c.591G>A	16.37:g.67006910G>A	ENSP00000445559:p.Trp197*	NA	B2Z3W9|Q7Z6J1	37	CCDS54023.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196124	0.78902	.	.	ENSG00000172828	ENST00000303334;ENST00000394037;ENST00000543856	.	.	.	3.54	2.58	0.30949	.	0.538057	0.14257	N	0.331073	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	8.5445	0.33413	0.1187:0.0:0.8813:0.0	.	.	.	.	X	558;555;197	.	ENSP00000304782:W558X	W	+	3	0	CES3	65564411	0.025000	0.19082	0.280000	0.24747	0.027000	0.11550	0.550000	0.23345	1.995000	0.58328	0.579000	0.79373	TGG	CES3-003	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000431986.1		+	ENST00000543856.1	Nonsense_Mutation	SNP	16 : 67006910 - 67006910 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	375	39
MLLT10	8028	broad.mit.edu	37	10	22019972	22019972	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22019972C>T	ENST00000377072.3	+	18	2603	c.2255C>T	c.(2254-2256)aCt>aTt	p.T752I	MLLT10_ENST00000377059.3_Missense_Mutation_p.T736I|MLLT10_ENST00000307729.7_Missense_Mutation_p.T736I|MLLT10_ENST00000446906.2_Missense_Mutation_p.T736I	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	752	Transactivation domain.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAACAGGGTACTCCTAGTGAC	0.433		NA	T	MLL, PICALM, CDK6	AL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		10	10p12	8028	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)		L	0													151	144	146			NA	NA	10		NA											NA				22019972		2203	4300	6503	SO:0001583	missense			U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403	8028	8028		Zinc fingers, PHD-type	16063	protein-coding gene	gene with protein product		602409	myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10		NA	7888665	Standard		NM_004641	NA	Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000377072.3:c.2255C>T	10.37:g.22019972C>T	ENSP00000366272:p.Thr752Ile	NA	Q5JT37	37	CCDS7135.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595286	0.86953	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059	T;T;T;T	0.09911	2.93;2.93;2.93;2.93	5.3	5.3	0.74995	.	0.150213	0.64402	D	0.000012	T	0.26011	0.0634	L	0.41236	1.265	0.50813	D	0.999893	D;D;D;D	0.89917	1.0;0.999;0.995;0.999	D;D;P;D	0.83275	0.996;0.991;0.795;0.991	T	0.00899	-1.1522	10	0.30078	T	0.28	.	18.9445	0.92616	0.0:1.0:0.0:0.0	.	431;736;736;752	Q5HYC6;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	I	752;736;736;571;736	ENSP00000366272:T752I;ENSP00000401406:T736I;ENSP00000307411:T736I;ENSP00000366258:T736I	ENSP00000307411:T736I	T	+	2	0	MLLT10	22059978	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.020000	0.76419	2.466000	0.83321	0.561000	0.74099	ACT	MLLT10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047135.1		+	ENST00000377072.3	Missense_Mutation	SNP	10 : 22019972 - 22019972 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	773	115
LILRA2	11027	broad.mit.edu	37	19	55086784	55086784	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55086784C>A	ENST00000391737.1	+	4	719	c.681C>A	c.(679-681)agC>agA	p.S227R	LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251377.3_Missense_Mutation_p.S239R|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.S239R|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.S239R					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	NA										breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCGGGGAGAGCCTGACCCTCC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	110	109			NA	NA	19		NA											NA				55086784		2203	4300	6503	SO:0001583	missense			U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998	NA	11027		Leukocyte immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	6603	protein-coding gene	gene with protein product		604812			NA	9079806, 9548455	Standard		XM_005258452	NA	Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000391737.1:c.681C>A	19.37:g.55086784C>A	ENSP00000375617:p.Ser227Arg	NA		37		.	.	.	.	.	.	.	.	.	.	C	5.286	0.238185	0.10023	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.00873	5.59;5.59;5.59;5.59;5.59	2.11	-1.96	0.07525	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.810500	0.03188	N	0.172960	T	0.01254	0.0041	L	0.48877	1.53	0.09310	N	1	B;B;B;B	0.22541	0.071;0.003;0.006;0.001	B;B;B;B	0.25759	0.063;0.014;0.014;0.005	T	0.47749	-0.9093	10	0.49607	T	0.09	.	3.4604	0.07531	0.0:0.5:0.2107:0.2894	.	239;227;239;239	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	R	239;239;239;239;227	ENSP00000388131:S239R;ENSP00000251377:S239R;ENSP00000375618:S239R;ENSP00000251376:S239R;ENSP00000375617:S227R	ENSP00000251376:S239R	S	+	3	2	LILRA2	59778596	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.865000	0.04250	-0.361000	0.08125	-1.294000	0.01345	AGC	LILRA2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000140814.1		+	ENST00000391737.1	Missense_Mutation	SNP	19 : 55086784 - 55086784 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	649	118
ILVBL	10994	broad.mit.edu	37	19	15226130	15226130	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15226130C>A	ENST00000263383.3	-	16	1971	c.1832G>T	c.(1831-1833)gGc>gTc	p.G611V	ILVBL_ENST00000534378.1_Missense_Mutation_p.G504V	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	611						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						AACCGGGTGGCCGTCTCGGCA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	99	110			NA	NA	19		NA											NA				15226130		2203	4300	6503	SO:0001583	missense			U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135	10994	10994			6041	protein-coding gene	gene with protein product	acetolactate synthase homolog	605770			NA	8954801	Standard	NM_006844	NM_006844	NA	Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.1832G>T	19.37:g.15226130C>A	ENSP00000263383:p.Gly611Val	NA	O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	37	CCDS12325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.1|20.1	3.940381|3.940381	0.73557|0.73557	.|.	.|.	ENSG00000105135|ENSG00000105135	ENST00000269733|ENST00000263383	.|T	.|0.48522	.|0.81	5.37|5.37	5.37|5.37	0.77165|0.77165	.|Thiamine pyrophosphate enzyme, C-terminal TPP-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.77545	.|0.4146	H|H	0.96080|0.96080	3.765|3.765	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|D	.|0.70227	.|0.968	.|D	.|0.84377	.|0.0547	.|10	.|0.66056	.|D	.|0.02	.|-28.1197	14.6173|14.6173	0.68558|0.68558	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|611	.|A1L0T0	.|ILVBL_HUMAN	.|V	-1|611	.|ENSP00000263383:G611V	.|ENSP00000263383:G611V	.|G	-|-	.|2	.|0	ILVBL|ILVBL	15087130|15087130	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.611000|0.611000	0.37282|0.37282	7.211000|7.211000	0.77933|0.77933	2.528000|2.528000	0.85240|0.85240	0.655000|0.655000	0.94253|0.94253	.|GGC	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385439.1		-	ENST00000263383.3	Missense_Mutation	SNP	19 : 15226130 - 15226130 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	484	88
OLFM2	93145	broad.mit.edu	37	19	9965413	9965413	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9965413C>T	ENST00000264833.4	-	6	999	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	OLFM2_ENST00000590841.1_Missense_Mutation_p.V194M	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	272	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TTGTACACCACGTGGCCCGTG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	51	51			NA	NA	19		NA											NA				9965413		2203	4300	6503	SO:0001583	missense			AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088	93145	93145			17189	protein-coding gene	gene with protein product	noelin 2				NA		Standard		NM_058164	NA	Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.814G>A	19.37:g.9965413C>T	ENSP00000264833:p.Val272Met	NA	Q6IMJ3|Q96FC2	37	CCDS12221.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566389	0.65651	.	.	ENSG00000105088	ENST00000264833	D	0.91996	-2.95	4.45	4.45	0.53987	Olfactomedin-like (3);	0.000000	0.64402	D	0.000001	D	0.95762	0.8621	M	0.89601	3.045	0.80722	D	1	D	0.60575	0.988	P	0.58130	0.833	D	0.96273	0.9200	9	.	.	.	.	14.6457	0.68759	0.0:1.0:0.0:0.0	.	272	O95897	NOE2_HUMAN	M	272	ENSP00000264833:V272M	.	V	-	1	0	OLFM2	9826413	1.000000	0.71417	1.000000	0.80357	0.351000	0.29236	7.556000	0.82233	2.291000	0.77112	0.561000	0.74099	GTG	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451119.1		-	ENST00000264833.4	Missense_Mutation	SNP	19 : 9965413 - 9965413 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	207	35
LEFTY2	7044	broad.mit.edu	37	1	226127113	226127113	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226127113C>T	ENST00000366820.5	-	3	1033	c.685G>A	c.(685-687)Ggg>Agg	p.G229R	LEFTY2_ENST00000420304.2_Missense_Mutation_p.G195R	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	229					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					TCCCCAAGCCCGGCTGGCGCC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(172;116 2643 9098 43333)							NA				0													13	15	14			NA	NA	1		NA											NA				226127113		2198	4289	6487	SO:0001583	missense			U81523	CCDS1549.1, CCDS53479.1	1q42.1	2008-07-18	2004-11-17	2004-11-17	ENSG00000143768	ENSG00000143768	7044	7044			3122	protein-coding gene	gene with protein product	transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)	601877	endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily)	TGFB4, EBAF	NA	9153275	Standard	NM_003240	NM_001172425	NA	Approved	LEFTA, LEFTYA	uc001hpt.2	O00292	OTTHUMG00000037441	ENST00000366820.5:c.685G>A	1.37:g.226127113C>T	ENSP00000355785:p.Gly229Arg	NA	B3KNH4|O75611|Q5TE89|Q8NBQ9	37	CCDS1549.1	.	.	.	.	.	.	.	.	.	.	c	7.488	0.650146	0.14516	.	.	ENSG00000143768	ENST00000420304;ENST00000366820	T;T	0.68331	-0.08;-0.32	4.47	2.49	0.30216	.	0.699335	0.14840	N	0.295316	T	0.37625	0.1010	N	0.08118	0	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.12837	0.008;0.008	T	0.12041	-1.0563	10	0.20046	T	0.44	.	2.3429	0.04264	0.2456:0.4717:0.0:0.2827	.	195;229	E9PDM4;O00292	.;LFTY2_HUMAN	R	195;229	ENSP00000388009:G195R;ENSP00000355785:G229R	ENSP00000355785:G229R	G	-	1	0	LEFTY2	224193736	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.028000	0.12350	0.952000	0.37798	0.561000	0.74099	GGG	LEFTY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091152.1		-	ENST00000366820.5	Missense_Mutation	SNP	1 : 226127113 - 226127113 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	231	54
PLXNB1	5364	broad.mit.edu	37	3	48454198	48454198	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48454198G>T	ENST00000358536.4	-	25	5076	c.4807C>A	c.(4807-4809)Ctg>Atg	p.L1603M	PLXNB1_ENST00000358459.4_Missense_Mutation_p.L1420M|PLXNB1_ENST00000296440.6_Missense_Mutation_p.L1603M|PLXNB1_ENST00000448774.2_Missense_Mutation_p.L214M|PLXNB1_ENST00000456774.1_Missense_Mutation_p.L1420M	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1603					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGCTGCCCCAGCCCTTGCTCC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	42	41			NA	NA	3		NA											NA				48454198		2202	4300	6502	SO:0001583	missense			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050	5364	5364		Plexins	9103	protein-coding gene	gene with protein product		601053		PLXN5	NA	8570614, 11035813	Standard	NM_002673	XM_005265234	NA	Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.4807C>A	3.37:g.48454198G>T	ENSP00000351338:p.Leu1603Met	NA	A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	37	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339755	0.60963	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000448774;ENST00000456774	T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15	4.11	3.23	0.37069	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.177773	0.38381	N	0.001713	T	0.33000	0.0848	L	0.50919	1.6	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.05178	-1.0901	10	0.36615	T	0.2	.	5.5039	0.16844	0.3324:0.0:0.6676:0.0	.	1603;1420	O43157;O43157-2	PLXB1_HUMAN;.	M	1603;1420;1603;214;1420	ENSP00000296440:L1603M;ENSP00000351242:L1420M;ENSP00000351338:L1603M;ENSP00000389320:L214M;ENSP00000414199:L1420M	ENSP00000296440:L1603M	L	-	1	2	PLXNB1	48429202	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.458000	0.45014	1.064000	0.40671	0.551000	0.68910	CTG	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344454.1		-	ENST00000358536.4	Missense_Mutation	SNP	3 : 48454198 - 48454198 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	327	57
ACRV1	56	broad.mit.edu	37	11	125542528	125542528	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125542528A>C	ENST00000533904.1	-	4	1100	c.758T>G	c.(757-759)aTt>aGt	p.I253S	ACRV1_ENST00000348856.3_Missense_Mutation_p.I153S|ACRV1_ENST00000353070.1_Missense_Mutation_p.I69S|ACRV1_ENST00000425431.1_Missense_Mutation_p.I109S|CHEK1_ENST00000428830.2_Intron|ACRV1_ENST00000530048.1_Missense_Mutation_p.I198S|ACRV1_ENST00000315608.3_Missense_Mutation_p.I234S|ACRV1_ENST00000453509.1_Missense_Mutation_p.I164S|ACRV1_ENST00000527795.1_Missense_Mutation_p.I183S|ACRV1_ENST00000345274.1_Missense_Mutation_p.I143S|ACRV1_ENST00000445562.1_Missense_Mutation_p.I158S			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	253					multicellular organismal development	acrosomal vesicle				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		ACAGCATATAATTTGCATCCT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													183	161	168			NA	NA	11		NA											NA				125542528		2201	4299	6500	SO:0001583	missense			AK223335	CCDS8460.1, CCDS8461.1, CCDS44759.1, CCDS44761.1	11q24.2	2012-05-16			ENSG00000134940	ENSG00000134940	56	56			127	protein-coding gene	gene with protein product	sperm protein 10	102525			NA	1693291, 8288254	Standard	NM_001612	NM_001612	NA	Approved	SPACA2, SP-10, D11S4365	uc001qcs.3	P26436	OTTHUMG00000165854	ENST00000533904.1:c.758T>G	11.37:g.125542528A>C	ENSP00000432816:p.Ile253Ser	NA	Q53FF4	37	CCDS8460.1	.	.	.	.	.	.	.	.	.	.	A	18.53	3.642964	0.67244	.	.	ENSG00000134940	ENST00000533904;ENST00000433875;ENST00000257382;ENST00000426183;ENST00000453509;ENST00000445562;ENST00000348856;ENST00000345274;ENST00000425431;ENST00000353070;ENST00000315608;ENST00000530048;ENST00000527795	T;T;T;T;T;T;T;T;T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68	4.26	4.26	0.50523	.	0.109289	0.40222	N	0.001156	T	0.43590	0.1254	M	0.64404	1.975	0.37751	D	0.925961	P;D;D;P;D;D;D;D;D	0.89917	0.929;0.999;1.0;0.95;1.0;0.976;0.98;0.984;0.959	P;D;D;P;D;P;P;P;P	0.69824	0.762;0.95;0.966;0.625;0.966;0.707;0.81;0.791;0.583	T	0.45041	-0.9288	10	0.48119	T	0.1	-3.8873	10.0696	0.42325	1.0:0.0:0.0:0.0	.	253;234;143;69;158;198;109;183;164	P26436;P26436-2;P26436-8;P26436-11;P26436-6;P26436-3;P26436-10;P26436-4;P26436-5	ASPX_HUMAN;.;.;.;.;.;.;.;.	S	253;234;198;183;164;158;153;143;109;69;234;198;183	ENSP00000432816:I253S;ENSP00000407846:I234S;ENSP00000257382:I198S;ENSP00000411583:I183S;ENSP00000397448:I164S;ENSP00000412653:I158S;ENSP00000257385:I153S;ENSP00000257383:I143S;ENSP00000395453:I109S;ENSP00000257386:I69S;ENSP00000317684:I234S;ENSP00000433720:I198S;ENSP00000436819:I183S	ENSP00000257382:I198S	I	-	2	0	ACRV1	125047738	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.646000	0.54396	2.151000	0.67156	0.523000	0.50628	ATT	ACRV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386722.1		-	ENST00000533904.1	Missense_Mutation	SNP	11 : 125542528 - 125542528 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	662	119
DCLK3	85443	broad.mit.edu	37	3	36757013	36757013	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36757013C>A	ENST00000416516.2	-	5	2244		c.e5-1			NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	NA						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TCTTTAGCAGCTGTTGGAATG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	69	69			NA	NA	3		NA											NA				36757013		1928	4125	6053	SO:0001630	splice_region_variant			AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673	85443	85443			19005	protein-coding gene	gene with protein product		613167	doublecortin and CaM kinase-like 3	DCAMKL3	NA	11214970, 16869982	Standard	XM_047355	NM_033403	NA	Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.1754-1G>T	3.37:g.36757013C>A		NA		37	CCDS43064.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585628	0.86748	.	.	ENSG00000163673	ENST00000416516	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3271	0.98704	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DCLK3	36732017	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.295000	0.78780	2.885000	0.99019	0.655000	0.94253	.	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341727.1	Intron	-	ENST00000416516.2	Splice_Site	SNP	3 : 36757013 - 36757013 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	299	65
IL23R	149233	broad.mit.edu	37	1	67705865	67705865	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67705865A>G	ENST00000347310.5	+	9	1220	c.1049A>G	c.(1048-1050)aAc>aGc	p.N350S	IL23R_ENST00000371002.1_Intron|IL23R_ENST00000395227.1_Missense_Mutation_p.N95S|IL23R_ENST00000473881.1_Intron	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	350					inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						TCATTAGACAACAGAGGAGAC	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													182	166	171			NA	NA	1		NA											NA				67705865		2203	4299	6502	SO:0001583	missense			AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594	149233	149233			19100	protein-coding gene	gene with protein product		607562			NA	12023369	Standard	NM_144701	NM_144701	NA	Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.1049A>G	1.37:g.67705865A>G	ENSP00000321345:p.Asn350Ser	NA	C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	37	CCDS637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.34|13.34	2.206588|2.206588	0.39003|0.39003	.|.	.|.	ENSG00000162594|ENSG00000162594	ENST00000347310;ENST00000431791;ENST00000441823;ENST00000395227|ENST00000425614	T;T|.	0.37915|.	1.17;1.29|.	5.19|5.19	1.56|1.56	0.23342|0.23342	.|.	1.218930|.	0.05371|.	N|.	0.535435|.	T|T	0.25531|0.25531	0.0621|0.0621	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	1|1	B;B;B;B;B;P;P;B;P|.	0.38504|.	0.091;0.037;0.091;0.037;0.005;0.634;0.571;0.091;0.571|.	B;B;B;B;B;B;B;B;B|.	0.33392|.	0.027;0.012;0.027;0.018;0.003;0.124;0.163;0.027;0.121|.	T|T	0.22521|0.22521	-1.0214|-1.0214	10|5	0.22706|.	T|.	0.39|.	-18.5664|-18.5664	6.9466|6.9466	0.24522|0.24522	0.7309:0.0:0.2691:0.0|0.7309:0.0:0.2691:0.0	.|.	96;174;174;108;179;204;257;95;350|.	Q5VWK5-2;B6HY71;B6HY89;E9PHX4;E9PG12;B6HY79;B6VNT7;Q5VWK5-6;Q5VWK5|.	.;.;.;.;.;.;.;.;IL23R_HUMAN|.	S|A	350;179;108;95|112	ENSP00000321345:N350S;ENSP00000378652:N95S|.	ENSP00000321345:N350S|.	N|T	+|+	2|1	0|0	IL23R|IL23R	67478453|67478453	0.011000|0.011000	0.17503|0.17503	0.001000|0.001000	0.08648|0.08648	0.787000|0.787000	0.44495|0.44495	1.051000|1.051000	0.30417|0.30417	0.164000|0.164000	0.19529|0.19529	-0.256000|-0.256000	0.11100|0.11100	AAC|ACA	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025199.2		+	ENST00000347310.5	Missense_Mutation	SNP	1 : 67705865 - 67705865 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	271	23
ARG2	384	broad.mit.edu	37	14	68113681	68113681	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68113681G>T	ENST00000261783.3	+	6	841	c.661G>T	c.(661-663)Gat>Tat	p.D221Y		NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	221					arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding	p.D221Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	TTCCATGAGAGATATTGATCG	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											96	93	94			NA	NA	14		NA											NA				68113681		2203	4300	6503	SO:0001583	missense			D86724	CCDS9785.1	14q24.1	2013-05-01	2013-05-01			ENSG00000081181	384	384			664	protein-coding gene	gene with protein product		107830	arginase, type II		NA	8954792, 8898077	Standard	NM_001172	NM_001172	NA	Approved		uc001xjs.3	P78540		ENST00000261783.3:c.661G>T	14.37:g.68113681G>T	ENSP00000261783:p.Asp221Tyr	NA	B2R690|Q6FHY8	37	CCDS9785.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335165	0.81801	.	.	ENSG00000081181	ENST00000261783	D	0.86432	-2.12	6.17	6.17	0.99709	Ureohydrolase domain (1);	0.127366	0.64402	D	0.000001	D	0.92734	0.7690	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.92752	0.6217	10	0.87932	D	0	.	16.2608	0.82541	0.0:0.1316:0.8683:0.0	.	221	P78540	ARGI2_HUMAN	Y	221	ENSP00000261783:D221Y	ENSP00000261783:D221Y	D	+	1	0	ARG2	67183434	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.527000	0.73803	2.941000	0.99782	0.655000	0.94253	GAT	ARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415190.2		+	ENST00000261783.3	Missense_Mutation	SNP	14 : 68113681 - 68113681 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	402	65
CECR5	27440	broad.mit.edu	37	22	17619225	17619225	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17619225A>G	ENST00000399852.3	-	4	361	c.358T>C	c.(358-360)Tac>Cac	p.Y120H	CECR5_ENST00000155674.5_Missense_Mutation_p.Y290H|CECR5_ENST00000336737.4_Missense_Mutation_p.Y320H			Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	320							hydrolase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				TTGGCGCCGTATACGTCAGAC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	45	45			NA	NA	22		NA											NA				17619225		2203	4300	6503	SO:0001583	missense			AF273270	CCDS13741.1, CCDS33595.1	22q11.2	2008-06-12			ENSG00000069998	ENSG00000069998	27440	27440			1843	protein-coding gene	gene with protein product					NA	11381032	Standard	NM_017829	NM_017829	NA	Approved		uc002zmf.3	Q9BXW7	OTTHUMG00000150071	ENST00000399852.3:c.358T>C	22.37:g.17619225A>G	ENSP00000382745:p.Tyr120His	NA	B2RCK5|Q9BXW8|Q9NWA8|Q9NX41	37		.	.	.	.	.	.	.	.	.	.	A	15.99	2.995841	0.54147	.	.	ENSG00000069998	ENST00000155674;ENST00000336737;ENST00000399852	T;T;T	0.23147	1.92;1.92;1.92	4.47	4.47	0.54385	HAD-like domain (2);	0.058061	0.64402	D	0.000001	T	0.51295	0.1666	M	0.84846	2.72	0.47214	D	0.999357	D;D;D;D	0.89917	0.96;1.0;1.0;1.0	P;D;D;D	0.80764	0.879;0.994;0.968;0.992	T	0.54337	-0.8309	10	0.17369	T	0.5	-9.4427	13.9375	0.64034	1.0:0.0:0.0:0.0	.	290;120;320;184	Q9BXW7-2;A8MYZ9;Q9BXW7;B3KVW8	.;.;CECR5_HUMAN;.	H	290;320;120	ENSP00000155674:Y290H;ENSP00000337358:Y320H;ENSP00000382745:Y120H	ENSP00000155674:Y290H	Y	-	1	0	CECR5	15999225	1.000000	0.71417	0.972000	0.41901	0.005000	0.04900	8.591000	0.90824	1.880000	0.54463	0.459000	0.35465	TAC	CECR5-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000316101.1		-	ENST00000399852.3	Missense_Mutation	SNP	22 : 17619225 - 17619225 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	369	62
CPA1	1357	broad.mit.edu	37	7	130027777	130027777	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130027777G>A	ENST00000011292.3	+	10	1335	c.1185G>A	c.(1183-1185)caG>caA	p.Q395Q	CPA1_ENST00000484324.1_Silent_p.Q307Q	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	395					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CAGCCTCCCAGATCATCCCCA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													214	209	211			NA	NA	7		NA											NA				130027777		2203	4300	6503	SO:0001819	synonymous_variant				CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	1357	1357	3.4.17.1		2296	protein-coding gene	gene with protein product	pancreatic carboxypeptidase A	114850		CPA	NA		Standard	NM_001868	NM_001868	NA	Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.1185G>A	7.37:g.130027777G>A		NA	A4D1M1|Q53XU0|Q9BS67|Q9UCF2	37	CCDS5820.1																																																																																			CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349736.2		+	ENST00000011292.3	Silent	SNP	7 : 130027777 - 130027777 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1743	347
ZNF324	25799	broad.mit.edu	37	19	58983274	58983274	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58983274G>A	ENST00000536459.2	+	4	2124	c.1415G>A	c.(1414-1416)cGg>cAg	p.R472Q	ZNF324_ENST00000196482.3_Missense_Mutation_p.R472Q|ZNF324_ENST00000535298.1_Missense_Mutation_p.R249Q			O75467	Z324A_HUMAN	zinc finger protein 324	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CTCAGCCACCGGCGCATTCAC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	36	35			NA	NA	19		NA											NA				58983274		2202	4298	6500	SO:0001583	missense			AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812	25799	25799		Zinc fingers, C2H2-type, -	14096	protein-coding gene	gene with protein product					NA		Standard	NM_014347	NM_014347	NA	Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.1415G>A	19.37:g.58983274G>A	ENSP00000444812:p.Arg472Gln	NA	B3KRX1	37	CCDS12981.1	.	.	.	.	.	.	.	.	.	.	G	5.080	0.200357	0.09652	.	.	ENSG00000083812	ENST00000196482;ENST00000536459;ENST00000539101;ENST00000535298	T;T;T	0.17691	2.26;2.26;2.26	3.84	1.72	0.24424	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.428368	0.17271	N	0.180378	T	0.05044	0.0135	N	0.01015	-1.05	0.29344	N	0.865829	P	0.47034	0.889	P	0.45856	0.495	T	0.18241	-1.0343	10	0.02654	T	1	.	8.0107	0.30351	0.2079:0.0:0.7921:0.0	.	472	O75467	Z324A_HUMAN	Q	472;472;462;249	ENSP00000196482:R472Q;ENSP00000444812:R472Q;ENSP00000439588:R249Q	ENSP00000196482:R472Q	R	+	2	0	ZNF324	63675086	0.004000	0.15560	0.994000	0.49952	0.413000	0.31143	-0.263000	0.08670	0.597000	0.29811	-0.497000	0.04613	CGG	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000467044.1		+	ENST00000536459.2	Missense_Mutation	SNP	19 : 58983274 - 58983274 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	398	84
PCDHGA6	56109	broad.mit.edu	37	5	140754948	140754948	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140754948C>T	ENST00000517434.1	+	1	1298	c.1298C>T	c.(1297-1299)tCt>tTt	p.S433F	PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			protocadherin gamma subfamily A, 6	NA										breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCTCTGTCTACAGAAACA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	124	121			NA	NA	5		NA											NA				140754948		2115	4254	6369	SO:0001583	missense			AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731	56109	56109		Cadherins / Protocadherins : Clustered	8704	other	protocadherin		606293			NA	10380929	Standard	NM_018919	NM_018919	NA	Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1298C>T	5.37:g.140754948C>T	ENSP00000429601:p.Ser433Phe	NA		37	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	13.01	2.110886	0.37242	.	.	ENSG00000253731	ENST00000517434	T	0.55052	0.54	5.25	5.25	0.73442	Cadherin (4);Cadherin-like (1);	0.000000	0.31145	U	0.008180	T	0.79293	0.4421	M	0.92738	3.34	0.32337	N	0.56034	P;D	0.56746	0.906;0.977	P;D	0.67231	0.66;0.95	D	0.84431	0.0577	10	0.59425	D	0.04	.	19.3941	0.94598	0.0:1.0:0.0:0.0	.	433;433	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	F	433	ENSP00000429601:S433F	ENSP00000429601:S433F	S	+	2	0	PCDHGA6	140735132	0.719000	0.27986	0.909000	0.35828	0.004000	0.04260	1.771000	0.38542	2.885000	0.99019	0.655000	0.94253	TCT	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374743.1		+	ENST00000517434.1	Missense_Mutation	SNP	5 : 140754948 - 140754948 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	663	132
IFT172	26160	broad.mit.edu	37	2	27684682	27684682	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27684682C>T	ENST00000260570.3	-	21	2240	c.2137G>A	c.(2137-2139)Ggc>Agc	p.G713S		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	713					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TGGTACATGCCCATGGCCTCC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	86	90			NA	NA	2		NA											NA				27684682		2203	4300	6503	SO:0001583	missense			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002	26160	26160		Intraflagellar transport homologs, WD repeat domain containing	30391	protein-coding gene	gene with protein product	wimple homolog	607386	intraflagellar transport 172 homolog (Chlamydomonas)		NA	10788441, 10574461, 24140113	Standard	NM_015662	XM_005264254	NA	Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.2137G>A	2.37:g.27684682C>T	ENSP00000260570:p.Gly713Ser	NA	B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	37	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.185459	0.38609	.	.	ENSG00000138002	ENST00000260570	T	0.20738	2.05	5.46	1.68	0.24146	Tetratricopeptide-like helical (1);	0.542765	0.22378	N	0.060846	T	0.09949	0.0244	N	0.12746	0.255	0.80722	D	1	B	0.12630	0.006	B	0.12156	0.007	T	0.24584	-1.0156	10	0.19147	T	0.46	-3.4826	8.2106	0.31481	0.0:0.6061:0.0:0.3939	.	713	Q9UG01	IF172_HUMAN	S	713	ENSP00000260570:G713S	ENSP00000260570:G713S	G	-	1	0	IFT172	27538186	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	1.139000	0.31504	0.032000	0.15435	0.591000	0.81541	GGC	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250213.2		-	ENST00000260570.3	Missense_Mutation	SNP	2 : 27684682 - 27684682 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	293	64
HNRNPUL1	11100	broad.mit.edu	37	19	41807498	41807498	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41807498C>T	ENST00000392006.3	+	11	1749	c.1576C>T	c.(1576-1578)Cgc>Tgc	p.R526C	HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.R437C|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.R426C|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.R426C|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.R526C|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.R412C|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.R426C	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	526	Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						AGGCTTCCAGCGCAAAGCTAT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	133	138			NA	NA	19		NA											NA				41807498		2203	4300	6503	SO:0001583	missense			AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323	11100	11100			17011	protein-coding gene	gene with protein product	E1B 55kDa associated protein 5	605800		HNRPUL1	NA	9733834, 12489984	Standard	NM_144732, NM_007040	XM_005258459	NA	Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.1576C>T	19.37:g.41807498C>T	ENSP00000375863:p.Arg526Cys	NA	B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	37	CCDS12576.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969155	0.92855	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	6.06	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.67924	0.2945	M	0.84219	2.685	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.985;0.995;1.0;0.989;0.995;0.994	T	0.74383	-0.3683	10	0.87932	D	0	-15.4825	15.8696	0.79101	0.1364:0.8636:0.0:0.0	.	437;426;526;412;526;426	B7Z4B8;A8K3W4;Q9BUJ2-2;Q9BUJ2-3;Q9BUJ2;Q9BUJ2-4	.;.;.;.;HNRL1_HUMAN;.	C	426;526;412;437	ENSP00000340857:R426C;ENSP00000375863:R526C;ENSP00000367460:R412C;ENSP00000263367:R437C	ENSP00000263367:R437C	R	+	1	0	HNRNPUL1	46499338	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.025000	0.70864	1.547000	0.49401	0.650000	0.86243	CGC	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463406.1		+	ENST00000392006.3	Missense_Mutation	SNP	19 : 41807498 - 41807498 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	703	147
NYNRIN	57523	broad.mit.edu	37	14	24878150	24878150	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24878150T>A	ENST00000382554.3	+	4	1468	c.1150T>A	c.(1150-1152)Tcc>Acc	p.S384T		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	384					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTGGCTCCTGTCCCAGGCGTG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	32	32			NA	NA	14		NA											NA				24878150		1911	4119	6030	SO:0001583	missense			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978	57523	57523			20165	protein-coding gene	gene with protein product	Cousin of GIN1		KIAA1305	KIAA1305	NA	19561090, 17114934	Standard		NM_025081	NA	Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.1150T>A	14.37:g.24878150T>A	ENSP00000371994:p.Ser384Thr	NA	Q6P153|Q86TR3|Q9HAC4	37	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.961623	0.74016	.	.	ENSG00000205978	ENST00000382554	T	0.12147	2.71	5.36	4.21	0.49690	.	1.265810	0.05502	N	0.558597	T	0.18551	0.0445	L	0.27053	0.805	0.23758	N	0.996923	D	0.55172	0.97	P	0.51833	0.681	T	0.23190	-1.0195	10	0.87932	D	0	.	8.6955	0.34293	0.0:0.0:0.2085:0.7915	.	384	Q9P2P1	NYNRI_HUMAN	T	384	ENSP00000371994:S384T	ENSP00000371994:S384T	S	+	1	0	NYNRIN	23947990	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.587000	0.36622	2.246000	0.74042	0.533000	0.62120	TCC	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412939.1		+	ENST00000382554.3	Missense_Mutation	SNP	14 : 24878150 - 24878150 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	190	23
KIAA2022	340533	broad.mit.edu	37	X	73964099	73964099	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:73964099G>T	ENST00000055682.6	-	3	904	c.293C>A	c.(292-294)gCc>gAc	p.A98D		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	NA					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GAGGGAGATGGCATTCACAGA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	93	97			NA	NA	X		NA											NA				73964099		2203	4300	6503	SO:0001583	missense				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030	340533	340533			29433	protein-coding gene	gene with protein product	XLMR-related protein, neurite extension	300524			NA	15466006, 23615299	Standard	NM_001008537	NM_001008537	NA	Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.293C>A	X.37:g.73964099G>T	ENSP00000055682:p.Ala98Asp	NA	A7YY87|Q5JUX9|Q8IVE9	37	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112719	0.56398	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.40225	1.04;1.04	5.2	5.2	0.72013	.	0.115622	0.56097	D	0.000021	T	0.55816	0.1944	L	0.44542	1.39	0.45662	D	0.998584	D	0.67145	0.996	P	0.62184	0.899	T	0.59059	-0.7525	10	0.87932	D	0	-8.8622	17.8486	0.88738	0.0:0.0:1.0:0.0	.	98	Q5QGS0	K2022_HUMAN	D	98	ENSP00000362567:A98D;ENSP00000055682:A98D	ENSP00000055682:A98D	A	-	2	0	KIAA2022	73880824	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.893000	0.75649	2.403000	0.81681	0.600000	0.82982	GCC	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057270.2		-	ENST00000055682.6	Missense_Mutation	SNP	X : 73964099 - 73964099 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	322	88
FBXL12	54850	broad.mit.edu	37	19	9921948	9921948	+	Missense_Mutation	SNP	C	C	A	rs142733350	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9921948C>A	ENST00000247977.4	-	3	846	c.605G>T	c.(604-606)aGc>aTc	p.S202I	FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000585379.1_Missense_Mutation_p.S149I|FBXL12_ENST00000586651.1_3'UTR|FBXL12_ENST00000591009.1_Missense_Mutation_p.S149I|FBXL12_ENST00000589626.1_3'UTR	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	202							protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						CTGCAGATAGCTGAGCTCCTG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	31	32			NA	NA	19		NA											NA				9921948		2200	4292	6492	SO:0001583	missense			AK000195	CCDS12218.1	19p13.2	2011-06-09				ENSG00000127452	54850	54850		F-boxes / Leucine-rich repeats	13611	protein-coding gene	gene with protein product		609079			NA	10531037	Standard	NM_017703	XM_005259964	NA	Approved	FLJ20188, Fbl12	uc002mme.3	Q9NXK8		ENST00000247977.4:c.605G>T	19.37:g.9921948C>A	ENSP00000247977:p.Ser202Ile	NA	B3KSJ8|Q9H5K4	37	CCDS12218.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067447	0.36470	.	.	ENSG00000127452	ENST00000247977	T	0.18174	2.23	5.0	1.69	0.24217	.	0.694941	0.14622	N	0.308337	T	0.07234	0.0183	N	0.08118	0	0.32275	N	0.568401	B	0.32693	0.38	B	0.31869	0.137	T	0.34502	-0.9826	9	.	.	.	.	6.1812	0.20472	0.0:0.668:0.0:0.332	.	202	Q9NXK8	FXL12_HUMAN	I	202	ENSP00000247977:S202I	.	S	-	2	0	FBXL12	9782948	0.867000	0.29959	0.915000	0.36163	0.768000	0.43524	0.358000	0.20216	0.259000	0.21709	-0.136000	0.14681	AGC	FBXL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450265.1		-	ENST00000247977.4	Missense_Mutation	SNP	19 : 9921948 - 9921948 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	363	81
KCNH2	3757	broad.mit.edu	37	7	150648836	150648836	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150648836C>T	ENST00000262186.5	-	7	2046	c.1645G>A	c.(1645-1647)Gtg>Atg	p.V549M	KCNH2_ENST00000430723.3_Missense_Mutation_p.V549M|KCNH2_ENST00000392968.2_Missense_Mutation_p.V453M|KCNH2_ENST00000330883.4_Missense_Mutation_p.V209M	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	549					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	AAGAACAGCACGGCCGCGCCG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(137;110 1844 13671 20123 45161)							NA				0													68	56	60			NA	NA	7		NA											NA				150648836		2203	4300	6503	SO:0001583	missense			U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118	3757	3757		Potassium channels, Voltage-gated ion channels / Potassium channels	6251	protein-coding gene	gene with protein product		152427		LQT2	NA	18616963, 7842012, 8159766, 16382104	Standard	NM_000238	NM_000238	NA	Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1645G>A	7.37:g.150648836C>T	ENSP00000262186:p.Val549Met	NA	A5H1P7|D3DX04|O75418|O75680|Q9BT72|Q9BUT7|Q9H3P0	37	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.150737	0.57151	.	.	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186;ENST00000350328;ENST00000430723	D;D;D;D	0.97575	-4.44;-4.44;-4.44;-4.44	4.08	4.08	0.47627	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97917	0.9315	M	0.71206	2.165	0.53005	D	0.999969	D;D;D;D;D	0.89917	1.0;1.0;0.961;0.995;0.975	D;D;P;P;P	0.91635	0.999;0.997;0.557;0.906;0.526	D	0.98021	1.0371	10	0.52906	T	0.07	.	13.8392	0.63428	0.0:1.0:0.0:0.0	.	453;549;209;549;209	C4PFH9;G5E9I0;Q708S9;Q12809;Q12809-2	.;.;.;KCNH2_HUMAN;.	M	209;453;549;209;549	ENSP00000328531:V209M;ENSP00000376695:V453M;ENSP00000262186:V549M;ENSP00000387657:V549M	ENSP00000262186:V549M	V	-	1	0	KCNH2	150279769	1.000000	0.71417	0.992000	0.48379	0.132000	0.20833	7.454000	0.80714	2.126000	0.65437	0.491000	0.48974	GTG	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350741.2		-	ENST00000262186.5	Missense_Mutation	SNP	7 : 150648836 - 150648836 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	297	50
KAT2B	8850	broad.mit.edu	37	3	20169002	20169002	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:20169002G>A	ENST00000263754.4	+	11	2165	c.1710G>A	c.(1708-1710)gaG>gaA	p.E570E		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	570	N-acetyltransferase.				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						GATTCACAGAGATTGTCTTCT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													200	179	186			NA	NA	3		NA											NA				20169002		2203	4300	6503	SO:0001819	synonymous_variant			U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166	8850	8850		Chromatin-modifying enzymes / K-acetyltransferases	8638	protein-coding gene	gene with protein product		602303	p300/CBP-associated factor	PCAF	NA	8684459, 9722949	Standard	NM_003884	NM_003884	NA	Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.1710G>A	3.37:g.20169002G>A		NA	Q6NSK1	37	CCDS2634.1																																																																																			KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252880.1		+	ENST00000263754.4	Silent	SNP	3 : 20169002 - 20169002 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	402	83
MYO1B	4430	broad.mit.edu	37	2	192234334	192234334	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:192234334C>T	ENST00000392318.3	+	12	1346	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*	MYO1B_ENST00000392316.1_Nonsense_Mutation_p.R367*|MYO1B_ENST00000339514.4_Nonsense_Mutation_p.R367*|MYO1B_ENST00000304164.4_Nonsense_Mutation_p.R367*	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	367	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.R367*(2)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GTTGGTAAATCGAATCAATGA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Nonsense(2)	large_intestine(2)											73	73	73			NA	NA	2		NA											NA				192234334		2203	4300	6503	SO:0001587	stop_gained			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641	4430	4430		Myosins / Myosin superfamily : Class I	7596	protein-coding gene	gene with protein product		606537			NA	8022818, 8449985	Standard	NM_012223	NM_012223	NA	Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.1099C>T	2.37:g.192234334C>T	ENSP00000376132:p.Arg367*	NA	O43794|Q7Z6L5	37	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	C	37	6.255787	0.97417	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2594	0.54642	0.2139:0.7861:0.0:0.0	.	.	.	.	X	367	.	ENSP00000306382:R367X	R	+	1	2	MYO1B	191942579	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.934000	0.48956	2.565000	0.86533	0.655000	0.94253	CGA	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334774.1		+	ENST00000392318.3	Nonsense_Mutation	SNP	2 : 192234334 - 192234334 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	491	47
DENND4A	10260	broad.mit.edu	37	15	66031062	66031062	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66031062A>G	ENST00000443035.3	-	6	998	c.783T>C	c.(781-783)acT>acC	p.T261T	DENND4A_ENST00000431932.2_Silent_p.T261T	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	261	UDENN.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CTGAGGCTCCAGTTAAAACAA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	99	100			NA	NA	15		NA											NA				66031062		1815	4068	5883	SO:0001819	synonymous_variant			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27			10260	10260		DENN/MADD domain containing	24321	protein-coding gene	gene with protein product		600382	c-myc promoter binding protein	MYCPBP	NA	8056341, 12906859	Standard	NM_005848	NM_005848	NA	Approved	IRLB	uc002api.3	Q7Z401		ENST00000443035.3:c.783T>C	15.37:g.66031062A>G		NA	Q14655|Q86T77|Q8IVX2|Q8NB93	37	CCDS53949.1																																																																																			DENND4A-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419609.1		-	ENST00000443035.3	Silent	SNP	15 : 66031062 - 66031062 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	475	84
PHF3	23469	broad.mit.edu	37	6	64422753	64422753	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64422753G>T	ENST00000262043.3	+	16	5609	c.5269G>T	c.(5269-5271)Gga>Tga	p.G1757*	PHF3_ENST00000393387.1_Nonsense_Mutation_p.G1757*			Q92576	PHF3_HUMAN	PHD finger protein 3	1757					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATTTCGAAGAGGATCAGCAGT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(135;136 1820 29512 34071 46235)							NA				0													98	96	97			NA	NA	6		NA											NA				64422753		2203	4300	6503	SO:0001587	stop_gained			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482	23469	23469		Zinc fingers, PHD-type	8921	protein-coding gene	gene with protein product		607789			NA	11856869	Standard		XM_005248701	NA	Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.5269G>T	6.37:g.64422753G>T	ENSP00000262043:p.Gly1757*	NA	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	37	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	43	10.083548	0.99332	.	.	ENSG00000118482	ENST00000262043;ENST00000393387	.	.	.	5.97	5.97	0.96955	.	0.000000	0.38663	N	0.001604	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.7549	20.4387	0.99107	0.0:0.0:1.0:0.0	.	.	.	.	X	1757	.	.	G	+	1	0	PHF3	64480712	1.000000	0.71417	0.996000	0.52242	0.809000	0.45718	6.716000	0.74702	2.836000	0.97738	0.655000	0.94253	GGA	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041086.2		+	ENST00000262043.3	Nonsense_Mutation	SNP	6 : 64422753 - 64422753 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	483	93
ALKBH6	84964	broad.mit.edu	37	19	36501912	36501912	+	Missense_Mutation	SNP	G	G	A	rs149341422		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36501912G>A	ENST00000486389.1	-	4	899	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W	ALKBH6_ENST00000495116.2_Intron|ALKBH6_ENST00000485128.1_Missense_Mutation_p.R74W|ALKBH6_ENST00000378875.3_Missense_Mutation_p.R102W|AC002116.8_ENST00000473572.2_RNA|ALKBH6_ENST00000252984.7_Missense_Mutation_p.R74W			Q3KRA9	ALKB6_HUMAN	alkB, alkylation repair homolog 6 (E. coli)	74						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGGGGCAGCCGCTCAGGAACC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	33	28	29		304,304	3	1	19	dbSNP_134	29	0,8600		0,0,4300	no	missense,missense	ALKBH6	NM_032878.3,NM_198867.1	101,101	0,2,6501	AA,AG,GG	NA	0.0,0.0454,0.0154	probably-damaging,probably-damaging	102/267,102/162	36501912	2,13004	2203	4300	6503	SO:0001583	missense			BM713594	CCDS12485.2, CCDS74342.1	19q13.12	2008-02-05			ENSG00000239382	ENSG00000239382	84964	84964		Alkylation repair homologs	28243	protein-coding gene	gene with protein product		613304			NA	8889548	Standard	NM_032878	NM_032878	NA	Approved	MGC15677	uc002ocv.1	Q3KRA9	OTTHUMG00000048137	ENST00000486389.1:c.151C>T	19.37:g.36501912G>A	ENSP00000474158:p.Arg51Trp	NA	A5LGM8|A6NLP1|A8MU96	37		.	.	.	.	.	.	.	.	.	.	G	20.9	4.068299	0.76301	4.54E-4	0.0	ENSG00000239382	ENST00000378875;ENST00000485128;ENST00000252984;ENST00000433672	T;T;T	0.30448	1.53;1.53;1.53	5.25	2.96	0.34315	.	.	.	.	.	T	0.35219	0.0924	N	0.24115	0.695	0.30420	N	0.778241	D;D;D;D	0.76494	0.993;0.999;0.998;0.999	P;P;P;P	0.59948	0.533;0.866;0.849;0.825	T	0.27434	-1.0074	9	0.72032	D	0.01	.	10.652	0.45653	0.0:0.0:0.6546:0.3454	.	74;95;102;74	B0AZV3;B4E3P3;Q3KRA9-2;Q3KRA9	.;.;.;ALKB6_HUMAN	W	102;74;74;74	ENSP00000368152:R102W;ENSP00000436742:R74W;ENSP00000252984:R74W	ENSP00000252984:R74W	R	-	1	2	ALKBH6	41193752	0.061000	0.20836	0.980000	0.43619	0.994000	0.84299	1.723000	0.38053	1.169000	0.42739	0.591000	0.81541	CGG	ALKBH6-006	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000280529.3		-	ENST00000486389.1	Missense_Mutation	SNP	19 : 36501912 - 36501912 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	134	34
OR5D16	390144	broad.mit.edu	37	11	55606350	55606350	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55606350G>A	ENST00000378396.1	+	1	123	c.123G>A	c.(121-123)gtG>gtA	p.V41V		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GCTTCAGTGTGGTAGGGAATC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	135	137			NA	NA	11		NA											NA				55606350		2201	4296	6497	SO:0001819	synonymous_variant			AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029	390144	390144		GPCR / Class A : Olfactory receptors	15283	protein-coding gene	gene with protein product					NA		Standard	NM_001005496	NM_001005496	NA	Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.123G>A	11.37:g.55606350G>A		NA	Q6IF65|Q96RB4	37	CCDS31512.1																																																																																			OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334506.1		+	ENST00000378396.1	Silent	SNP	11 : 55606350 - 55606350 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	958	159
PCDHA8	56140	broad.mit.edu	37	5	140221663	140221663	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140221663G>A	ENST00000531613.1	+	1	757	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.E253K|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018911.2	NP_061734.1			protocadherin alpha 8	NA										NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGAATATTCGAAAACGCAGA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	61	61			NA	NA	5		NA											NA				140221663		2203	4299	6502	SO:0001583	missense			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962	56140	56140		Cadherins / Protocadherins : Clustered	8674	other	complex locus constituent	KIAA0345-like 6	606314			NA	10380929	Standard	NM_018911	NM_018911	NA	Approved			Q9Y5H6		ENST00000531613.1:c.757G>A	5.37:g.140221663G>A	ENSP00000434655:p.Glu253Lys	NA		37	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	32	5.174784	0.94807	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.76316	-1.01;-1.01	3.73	3.73	0.42828	Cadherin (4);Cadherin-like (1);	0.000000	0.37715	U	0.001967	D	0.93973	0.8070	H	0.99929	4.97	0.44168	D	0.99697	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.97151	0.9831	10	0.87932	D	0	.	15.9435	0.79776	0.0:0.0:1.0:0.0	.	253;253	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	K	253	ENSP00000434655:E253K;ENSP00000367363:E253K	ENSP00000367363:E253K	E	+	1	0	PCDHA8	140201847	1.000000	0.71417	0.475000	0.27278	0.191000	0.23601	7.880000	0.87243	1.799000	0.52666	0.558000	0.71614	GAA	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372830.2		+	ENST00000531613.1	Missense_Mutation	SNP	5 : 140221663 - 140221663 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	412	43
EPSTI1	94240	broad.mit.edu	37	13	43500515	43500515	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:43500515C>T	ENST00000313640.7	-	7	678	c.614G>A	c.(613-615)aGt>aAt	p.S205N	EPSTI1_ENST00000313624.7_Missense_Mutation_p.S205N|EPSTI1_ENST00000398762.3_Missense_Mutation_p.S205N|EPSTI1_ENST00000476830.2_5'UTR	NM_001002264.2	NP_001002264.1	Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	205										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		TTGACAGGCACTTCTGTCTGG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													258	241	247			NA	NA	13		NA											NA				43500515		2203	4300	6503	SO:0001583	missense			AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106	94240	94240			16465	protein-coding gene	gene with protein product	epithelial stromal interaction protein 1	607441			NA	11991720	Standard	NM_001002264	NM_033255	NA	Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814	ENST00000313640.7:c.614G>A	13.37:g.43500515C>T	ENSP00000318982:p.Ser205Asn	NA	Q8IVC7|Q8NDQ7	37	CCDS31964.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115810	0.56505	.	.	ENSG00000133106	ENST00000313640;ENST00000313624;ENST00000398762;ENST00000537828	T	0.22743	1.94	5.06	3.07	0.35406	.	0.587060	0.18288	N	0.145787	T	0.19604	0.0471	M	0.62723	1.935	0.09310	N	1	B;B	0.17667	0.01;0.023	B;B	0.20767	0.013;0.031	T	0.22068	-1.0227	10	0.26408	T	0.33	-1.067	6.3186	0.21204	0.0:0.6543:0.0:0.3457	.	205;205	Q96J88-2;Q96J88-3	.;.	N	205;205;205;78	ENSP00000318982:S205N	ENSP00000318643:S205N	S	-	2	0	EPSTI1	42398515	0.832000	0.29368	0.002000	0.10522	0.051000	0.14879	1.041000	0.30291	0.629000	0.30376	0.655000	0.94253	AGT	EPSTI1-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276154.2		-	ENST00000313640.7	Missense_Mutation	SNP	13 : 43500515 - 43500515 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	919	148
MYH7B	57644	broad.mit.edu	37	20	33578879	33578879	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33578879G>A	ENST00000262873.7	+	22	2356	c.2264G>A	c.(2263-2265)cGc>cAc	p.R755H		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	713	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGGATCTGCCGCCAAGGGTTC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	70	68			NA	NA	20		NA											NA				33578879		2114	4266	6380	SO:0001583	missense			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814	57644	57644		Myosins / Myosin superfamily : Class II	15906	protein-coding gene	gene with protein product		609928	myosin, heavy polypeptide 7B, cardiac muscle, beta		NA	11919279, 15014174	Standard	NM_020884	XM_006723839	NA	Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.2264G>A	20.37:g.33578879G>A	ENSP00000262873:p.Arg755His	NA	Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	37	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058244	0.76074	.	.	ENSG00000078814	ENST00000262873	T	0.74842	-0.88	3.7	3.7	0.42460	Myosin head, motor domain (2);	0.000000	0.38111	N	0.001811	D	0.88819	0.6540	H	0.95114	3.625	0.58432	D	0.999998	D	0.69078	0.997	P	0.60949	0.881	D	0.92757	0.6221	10	0.87932	D	0	.	16.7703	0.85535	0.0:0.0:1.0:0.0	.	713	A7E2Y1	MYH7B_HUMAN	H	755	ENSP00000262873:R755H	ENSP00000262873:R755H	R	+	2	0	MYH7B	33042540	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.601000	0.98297	2.379000	0.81126	0.655000	0.94253	CGC	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078833.2		+	ENST00000262873.7	Missense_Mutation	SNP	20 : 33578879 - 33578879 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	38
B3GALT4	8705	broad.mit.edu	37	6	33245202	33245202	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33245202G>A	ENST00000451237.1	+	1	286	c.6G>A	c.(4-6)caG>caA	p.Q2Q		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	2					protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						GCACCATGCAGCTCAGGCTCT	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	49	47			NA	NA	6		NA											NA				33245202		2202	4296	6498	SO:0001819	synonymous_variant			Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863	8705	8705		Beta 3-glycosyltransferases	919	protein-coding gene	gene with protein product		603095			NA	9582303	Standard		NM_003782	NA	Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.6G>A	6.37:g.33245202G>A		NA		37	CCDS34425.1																																																																																			B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076162.2		+	ENST00000451237.1	Silent	SNP	6 : 33245202 - 33245202 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	745	136
CEMP1	752014	broad.mit.edu	37	16	2580903	2580903	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2580903C>T	ENST00000567119.1	-	1	506	c.172G>A	c.(172-174)Gcg>Acg	p.A58T	AMDHD2_ENST00000302956.4_3'UTR|AMDHD2_ENST00000413459.3_3'UTR|CEMP1_ENST00000565480.1_Intron|CEMP1_ENST00000382350.1_Missense_Mutation_p.A58T|AMDHD2_ENST00000565570.1_3'UTR	NM_001048212.3	NP_001041677.1	Q6PRD7	CEMP1_HUMAN	cementum protein 1	58						cytoplasm				lung(1)|skin(1)	2						TTGACGGCCGCGCACCCCTTA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,THR/ALA	0,4086		0,0,2043	38	46	44		,172	-2.6	0	16		44	1,8349		0,1,4174	no	utr-3,missense	AMDHD2,CEMP1	NM_001145815.1,NM_001048212.3	,58	0,1,6217	TT,TC,CC	NA	0.012,0.0,0.0080	,benign	,58/248	2580903	1,12435	2043	4175	6218	SO:0001583	missense			AY584596	CCDS42108.1	16p13.3	2006-09-22					752014	752014			32553	protein-coding gene	gene with protein product	cementum protein-23	611113			NA	16263347	Standard	NM_001048212	NM_001048212	NA	Approved	CP-23	uc002cqr.3	Q6PRD7		ENST00000567119.1:c.172G>A	16.37:g.2580903C>T	ENSP00000457380:p.Ala58Thr	NA	B2RUY1	37	CCDS42108.1	.	.	.	.	.	.	.	.	.	.	C	3.638	-0.074199	0.07184	0.0	1.2E-4	ENSG00000205923	ENST00000382350	T	0.55052	0.54	1.3	-2.59	0.06209	.	.	.	.	.	T	0.26557	0.0649	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.09530	-1.0670	9	0.87932	D	0	.	3.6591	0.08232	0.0:0.467:0.2191:0.3139	.	58	Q6PRD7	CEMP1_HUMAN	T	58	ENSP00000371787:A58T	ENSP00000371787:A58T	A	-	1	0	CEMP1	2520904	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.467000	0.00229	-1.585000	0.01634	-1.567000	0.00876	GCG	CEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000435686.1		-	ENST00000567119.1	Missense_Mutation	SNP	16 : 2580903 - 2580903 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	282	70
MYH11	4629	broad.mit.edu	37	16	15814797	15814797	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15814797G>A	ENST00000452625.2	-	34	4798	c.4711C>T	c.(4711-4713)Cgg>Tgg	p.R1571W	MYH11_ENST00000576790.2_Missense_Mutation_p.R1564W|MYH11_ENST00000300036.5_Missense_Mutation_p.R1564W|MYH11_ENST00000396324.3_Missense_Mutation_p.R1571W|NDE1_ENST00000396355.1_Intron|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396354.1_Intron	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1564					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ACTTCCAGCCGCAGTTTGGCG	0.602		NA	T	CBFB	AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		16	16p13.13-p13.12	4629	myosin, heavy polypeptide 11, smooth muscle		L	0													110	101	104			NA	NA	16		NA											NA				15814797		2197	4300	6497	SO:0001583	missense			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392	4629	4629		Myosins / Myosin superfamily : Class II	7569	protein-coding gene	gene with protein product		160745	myosin, heavy polypeptide 11, smooth muscle		NA	7684189	Standard	NM_001040113	NM_001040113	NA	Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000452625.2:c.4711C>T	16.37:g.15814797G>A	ENSP00000407821:p.Arg1571Trp	NA	O00396|O94944|P78422	37	CCDS45424.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946232	0.73672	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	4.97	2.73	0.32206	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.93651	0.7972	H	0.94306	3.52	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.94435	0.7653	10	0.87932	D	0	.	12.135	0.53966	0.0:0.0:0.5351:0.4649	.	1571;1564;1571;1564;1571	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	W	1564;1564;1571;1571;1571	ENSP00000300036:R1564W;ENSP00000345136:R1564W;ENSP00000379616:R1571W;ENSP00000407821:R1571W	ENSP00000300036:R1564W	R	-	1	2	MYH11	15722298	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.928000	0.40104	1.056000	0.40484	0.561000	0.74099	CGG	MYH11-013	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000436647.2		-	ENST00000452625.2	Missense_Mutation	SNP	16 : 15814797 - 15814797 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	666	120
TCAIM	285343	broad.mit.edu	37	3	44409153	44409153	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44409153C>T	ENST00000342649.4	+	5	952	c.525C>T	c.(523-525)gaC>gaT	p.D175D	TCAIM_ENST00000417237.1_Silent_p.D175D	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2			T cell activation inhibitor, mitochondrial	NA											NA						GATTCAAGGACCCTGATGAAG	0.388		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	3		NA											NA				44409153		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152	285343	285343			25241	protein-coding gene	gene with protein product	tolerance associated gene-1		chromosome 3 open reading frame 23	C3orf23	NA	12477932	Standard	NM_173826	NM_001029840	NA	Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.525C>T	3.37:g.44409153C>T		NA		37	CCDS2712.1																																																																																			TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256655.2		+	ENST00000342649.4	Silent	SNP	3 : 44409153 - 44409153 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	148	25
FBXO42	54455	broad.mit.edu	37	1	16579592	16579592	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16579592G>A	ENST00000375592.3	-	8	1136	c.920C>T	c.(919-921)gCt>gTt	p.A307V		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	307										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		AATACTCACAGCATTGGGACC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	56	58			NA	NA	1		NA											NA				16579592		2203	4300	6503	SO:0001630	splice_region_variant			BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637	54455	54455		F-boxes /  other	29249	protein-coding gene	gene with protein product		609109			NA	10718198	Standard		XM_006710698	NA	Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.921+1C>T	1.37:g.16579592G>A		NA	B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	37	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204529	0.79127	.	.	ENSG00000037637	ENST00000375592;ENST00000456164;ENST00000444116	T;T;T	0.66280	-0.2;-0.16;-0.16	5.86	5.86	0.93980	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.59905	0.2228	L	0.50333	1.59	0.80722	D	1	B	0.27450	0.179	B	0.28638	0.092	T	0.53774	-0.8391	10	0.27785	T	0.31	-8.6863	19.1901	0.93663	0.0:0.0:1.0:0.0	.	307	Q6P3S6	FBX42_HUMAN	V	307;25;25	ENSP00000364742:A307V;ENSP00000415663:A25V;ENSP00000412416:A25V	ENSP00000364742:A307V	A	-	2	0	FBXO42	16452179	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.176000	0.89686	2.776000	0.95493	0.655000	0.94253	GCT	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006285.1	Missense_Mutation	-	ENST00000375592.3	Splice_Site	SNP	1 : 16579592 - 16579592 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	120	12
EIF4ENIF1	56478	broad.mit.edu	37	22	31844161	31844161	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31844161G>T	ENST00000344710.5	-	11	1458	c.1301C>A	c.(1300-1302)cCc>cAc	p.P434H	EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.P609H|EIF4ENIF1_ENST00000397525.1_Missense_Mutation_p.P609H|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.P585H|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.P264H	NM_001164502.1	NP_001157974.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	609						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GGGGCTCATGGGTTTGCGCAT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													239	208	219			NA	NA	22		NA											NA				31844161		2203	4300	6503	SO:0001583	missense			AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708	56478	56478			16687	protein-coding gene	gene with protein product		607445			NA	10856257	Standard	NM_019843	NM_019843	NA	Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000344710.5:c.1301C>A	22.37:g.31844161G>T	ENSP00000342927:p.Pro434His	NA	B1AKL2|B2RBF1|Q8NCF2|Q9H708	37	CCDS54520.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880164	0.91740	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180;ENST00000418321	.	.	.	6.16	6.16	0.99307	.	0.404947	0.30630	N	0.009207	T	0.66376	0.2783	L	0.38175	1.15	0.42328	D	0.992287	P;D;P;P	0.61080	0.896;0.989;0.797;0.914	P;P;P;P	0.60345	0.694;0.873;0.57;0.726	T	0.66681	-0.5862	9	0.66056	D	0.02	-6.1473	18.0158	0.89239	0.0:0.0:1.0:0.0	.	434;609;434;585	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	H	434;609;609;585;264;166	.	ENSP00000328103:P609H	P	-	2	0	EIF4ENIF1	30174161	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.493000	0.73658	2.937000	0.99478	0.650000	0.86243	CCC	EIF4ENIF1-001	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000127925.1		-	ENST00000344710.5	Missense_Mutation	SNP	22 : 31844161 - 31844161 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	687	112
MYO5B	4645	broad.mit.edu	37	18	47429162	47429162	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47429162C>T	ENST00000285039.7	-	21	2912	c.2613G>A	c.(2611-2613)gtG>gtA	p.V871V	MYO5B_ENST00000324581.6_Silent_p.V12V	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	871	Arg-rich.|IQ 5.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCCAGCCCCGCACGTGCTTCT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	28	27			NA	NA	18		NA											NA				47429162		2053	4201	6254	SO:0001819	synonymous_variant			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306	4645	4645		Myosins / Myosin superfamily : Class V	7603	protein-coding gene	gene with protein product		606540			NA	8884266, 17462998	Standard		NM_001080467	NA	Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.2613G>A	18.37:g.47429162C>T		NA	B0I1R3	37	CCDS42436.1																																																																																			MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448515.2		-	ENST00000285039.7	Silent	SNP	18 : 47429162 - 47429162 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	189	43
RAD21	5885	broad.mit.edu	37	8	117864872	117864872	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:117864872A>G	ENST00000297338.2	-	10	1524	c.1237T>C	c.(1237-1239)Ttg>Ctg	p.L413L		NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	413					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					AATTCATCCAAATTATCTGCC	0.398		NA											A	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	5e-04	SNP								NA				0													112	110	111			NA	NA	8		NA											NA				117864872		2203	4300	6503	SO:0001819	synonymous_variant			BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754	5885	5885			9811	protein-coding gene	gene with protein product	sister chromatid cohesion 1	606462	RAD21 (S. pombe) homolog		NA	8812457	Standard	NM_006265	NM_006265	NA	Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.1237T>C	8.37:g.117864872A>G		NA	A8K0E0|Q15001|Q99568	37	CCDS6321.1																																																																																			RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381184.1		-	ENST00000297338.2	Silent	SNP	8 : 117864872 - 117864872 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	535	83
PSMD12	5718	broad.mit.edu	37	17	65353435	65353435	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65353435C>T	ENST00000356126.3	-	3	388	c.281G>A	c.(280-282)cGg>cAg	p.R94Q	PSMD12_ENST00000357146.4_Missense_Mutation_p.R74Q|PSMD12_ENST00000581618.1_5'UTR	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	94					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding			breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					TAACTGACTCCGCCTTTTGGA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	68	69			NA	NA	17		NA											NA				65353435		2203	4300	6503	SO:0001583	missense			AB003103	CCDS11669.1, CCDS11670.1	17q24.3	2008-05-22			ENSG00000197170	ENSG00000197170	5718	5718		Proteasome (prosome, macropain) subunits	9557	protein-coding gene	gene with protein product		604450			NA	9426256	Standard	NM_002816, NM_174871	NM_002816	NA	Approved	p55, Rpn5	uc002jfy.3	O00232	OTTHUMG00000140376	ENST00000356126.3:c.281G>A	17.37:g.65353435C>T	ENSP00000348442:p.Arg94Gln	NA	Q53HA2|Q6P053	37	CCDS11669.1	.	.	.	.	.	.	.	.	.	.	C	33	5.233416	0.95207	.	.	ENSG00000197170	ENST00000356126;ENST00000357146	T;T	0.43688	3.35;0.94	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.69611	0.3130	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.73678	-0.3907	10	0.54805	T	0.06	-13.7726	18.9241	0.92537	0.0:1.0:0.0:0.0	.	74;94	A6NP15;O00232	.;PSD12_HUMAN	Q	94;74	ENSP00000348442:R94Q;ENSP00000349667:R74Q	ENSP00000348442:R94Q	R	-	2	0	PSMD12	62783897	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.356000	0.79445	2.477000	0.83638	0.591000	0.81541	CGG	PSMD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277103.1		-	ENST00000356126.3	Missense_Mutation	SNP	17 : 65353435 - 65353435 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	164	8
PCNT	5116	broad.mit.edu	37	21	47860063	47860063	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47860063C>T	ENST00000359568.5	+	42	9448	c.9341C>T	c.(9340-9342)cCc>cTc	p.P3114L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	3114	Interaction with NEK2.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CGCCCAGACCCCGGCCGGCTT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	LEU/PRO	0,4406		0,0,2203	56	64	61		9341	2.1	0	21		61	1,8599	1.2+/-3.3	0,1,4299	no	missense	PCNT	NM_006031.5	98	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign	3114/3337	47860063	1,13005	2203	4300	6503	SO:0001583	missense			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299	5116	5116			16068	protein-coding gene	gene with protein product	kendrin, Seckel syndrome 4	605925	pericentrin 2 (kendrin)	PCNT2	NA	8812505, 9455477	Standard	NM_006031	NM_006031	NA	Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.9341C>T	21.37:g.47860063C>T	ENSP00000352572:p.Pro3114Leu	NA	O43152|Q7Z7C9	37	CCDS33592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.72|15.72	2.915887|2.915887	0.52546|0.52546	0.0|0.0	1.16E-4|1.16E-4	ENSG00000160299|ENSG00000160299	ENST00000359568|ENST00000418394	T|T	0.01538|0.28454	4.79|1.61	4.96|4.96	2.12|2.12	0.27331|0.27331	.|.	.|.	.|.	.|.	.|.	T|T	0.20901|0.20901	0.0503|0.0503	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	B;B|.	0.18013|.	0.025;0.015|.	B;B|.	0.17433|.	0.018;0.008|.	T|T	0.28964|0.28964	-1.0027|-1.0027	9|7	0.56958|0.15499	D|T	0.05|0.54	.|.	5.8823|5.8823	0.18862|0.18862	0.1533:0.6805:0.0:0.1662|0.1533:0.6805:0.0:0.1662	.|.	2917;3114|.	O95613-2;O95613|.	.;PCNT_HUMAN|.	L|S	3114|95	ENSP00000352572:P3114L|ENSP00000404708:P95S	ENSP00000352572:P3114L|ENSP00000404708:P95S	P|P	+|+	2|1	0|0	PCNT|PCNT	46684491|46684491	0.060000|0.060000	0.20803|0.20803	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	2.134000|2.134000	0.42102|0.42102	0.335000|0.335000	0.23614|0.23614	-0.150000|-0.150000	0.13652|0.13652	CCC|CCG	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207336.1		+	ENST00000359568.5	Missense_Mutation	SNP	21 : 47860063 - 47860063 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	713	127
CATSPER3	347732	broad.mit.edu	37	5	134344598	134344598	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134344598C>T	ENST00000282611.6	+	5	829	c.743C>T	c.(742-744)aCc>aTc	p.T248I		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	248					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGGGCATTCACCATCATCTTC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													277	236	250			NA	NA	5		NA											NA				134344598		2203	4300	6503	SO:0001583	missense			AF432876	CCDS4181.1	5q31.2	2011-07-05			ENSG00000152705	ENSG00000152705	347732	347732		Voltage-gated ion channels / Cation channels, sperm associated	20819	protein-coding gene	gene with protein product		609120			NA	12646162, 12932298, 17227845, 16382101	Standard	NM_178019	NM_178019	NA	Approved	CACRC	uc003lag.3	Q86XQ3	OTTHUMG00000129137	ENST00000282611.6:c.743C>T	5.37:g.134344598C>T	ENSP00000282611:p.Thr248Ile	NA	Q86XS6	37	CCDS4181.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050723	0.75960	.	.	ENSG00000152705	ENST00000282611	D	0.98345	-4.88	5.35	5.35	0.76521	Ion transport (1);	0.000000	0.56097	D	0.000031	D	0.98118	0.9379	L	0.38175	1.15	0.41201	D	0.986372	D	0.89917	1.0	D	0.91635	0.999	D	0.99215	1.0877	10	0.59425	D	0.04	-43.0996	16.38	0.83452	0.0:1.0:0.0:0.0	.	248	Q86XQ3	CTSR3_HUMAN	I	248	ENSP00000282611:T248I	ENSP00000282611:T248I	T	+	2	0	CATSPER3	134372497	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.285000	0.51716	2.677000	0.91161	0.563000	0.77884	ACC	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251191.2		+	ENST00000282611.6	Missense_Mutation	SNP	5 : 134344598 - 134344598 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	41
PIGW	284098	broad.mit.edu	37	17	34894032	34894032	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34894032T>C	ENST00000592983.1	+	2	1662	c.1082T>C	c.(1081-1083)gTa>gCa	p.V361A	PIGW_ENST00000328396.2_Missense_Mutation_p.V361A|MYO19_ENST00000590081.1_Intron			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	361					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAAGTAAATGTAGAAGCAGTA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	71	72			NA	NA	17		NA											NA				34894032		2203	4300	6503	SO:0001583	missense			AB097818	CCDS11313.1	17q21.1	2014-05-06	2006-06-28		ENSG00000184886	ENSG00000277161	284098	284098		Phosphatidylinositol glycan anchor biosynthesis	23213	protein-coding gene	gene with protein product		610275	phosphatidylinositol glycan, class W		NA	14517336, 12714589	Standard	NM_178517	XM_005257238	NA	Approved	Gwt1, FLJ37433	uc002hmz.1	Q7Z7B1	OTTHUMG00000188438	ENST00000592983.1:c.1082T>C	17.37:g.34894032T>C	ENSP00000468778:p.Val361Ala	NA	Q8N9G3	37	CCDS11313.1	.	.	.	.	.	.	.	.	.	.	T	12.91	2.079745	0.36662	.	.	ENSG00000184886	ENST00000328396	.	.	.	5.49	5.49	0.81192	.	0.522372	0.19962	N	0.102182	T	0.35248	0.0925	L	0.33339	1.005	0.30931	N	0.726925	B	0.17667	0.023	B	0.21151	0.033	T	0.30707	-0.9969	8	.	.	.	-1.2408	9.4746	0.38864	0.0:0.0876:0.0:0.9124	.	361	Q7Z7B1	PIGW_HUMAN	A	361	.	.	V	+	2	0	PIGW	31968145	0.997000	0.39634	0.990000	0.47175	0.992000	0.81027	2.992000	0.49417	2.216000	0.71823	0.459000	0.35465	GTA	PIGW-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451318.1		+	ENST00000592983.1	Missense_Mutation	SNP	17 : 34894032 - 34894032 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	248	46
SPINK5	11005	broad.mit.edu	37	5	147493998	147493998	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147493998G>A	ENST00000359874.3	+	21	2034	c.1961G>A	c.(1960-1962)cGt>cAt	p.R654H	SPINK5_ENST00000398454.1_Missense_Mutation_p.R654H|SPINK5_ENST00000256084.7_Missense_Mutation_p.R654H	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	654	Kazal-like 10.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCCTGTGCGTGGCCCAGAT	0.453		NA											G	1	5e-04	NA	NA	2184	0.0017	0.9995	,	,	NA	3e-04	NA	NA	NA	7e-04	0.7787	LOWCOV,EXOME	NA	NA	0.0037	SNP								NA				0													81	79	79			NA	NA	5		NA											NA				147493998		1912	4137	6049	SO:0001583	missense			AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710	11005	11005		Serine peptidase inhibitors, Kazal type	15464	protein-coding gene	gene with protein product	lymphoepithelial Kazal-type-related inhibitor	605010	serine protease inhibitor, Kazal type 5		NA	10419450	Standard	NM_001127698	NM_001127698	NA	Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000359874.3:c.1961G>A	5.37:g.147493998G>A	ENSP00000352936:p.Arg654His	NA	A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	37	CCDS47300.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	21.1	4.102952	0.76983	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.04603	3.59;3.59;3.59;3.59	5.42	4.54	0.55810	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.304457	0.26450	N	0.024303	T	0.17280	0.0415	M	0.69823	2.125	0.28078	N	0.932309	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;1.0;0.999	T	0.01001	-1.1485	10	0.59425	D	0.04	-22.2517	9.4175	0.38530	0.0952:0.0:0.9048:0.0	.	635;654;654;654	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	H	654;654;635;654	ENSP00000381472:R654H;ENSP00000352936:R654H;ENSP00000421519:R635H;ENSP00000256084:R654H	ENSP00000256084:R654H	R	+	2	0	SPINK5	147474191	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.543000	0.36147	2.703000	0.92315	0.655000	0.94253	CGT	SPINK5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000259217.1		+	ENST00000359874.3	Missense_Mutation	SNP	5 : 147493998 - 147493998 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	284	54
PCDHA2	56146	broad.mit.edu	37	5	140176178	140176178	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140176178G>A	ENST00000520672.2	+	1	1735	c.1629G>A	c.(1627-1629)ccG>ccA	p.P543P	PCDHA2_ENST00000526136.1_Silent_p.P543P|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.P543P|PCDHA1_ENST00000394633.3_Intron	NM_031496.1	NP_113684.1			protocadherin alpha 2	NA										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCGTGCCGCCTCTGGGCA	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	64	63			NA	NA	5		NA											NA				140176178		2203	4296	6499	SO:0001819	synonymous_variant			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969	56146	56146		Cadherins / Protocadherins : Clustered	8668	other	complex locus constituent	KIAA0345-like 12	606308			NA	10380929	Standard	NM_018905	NM_018905	NA	Approved			Q9Y5H9		ENST00000520672.2:c.1629G>A	5.37:g.140176178G>A		NA		37																																																																																				PCDHA2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000374265.2		+	ENST00000520672.2	Silent	SNP	5 : 140176178 - 140176178 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	876	157
HPCAL4	51440	broad.mit.edu	37	1	40150155	40150155	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40150155C>T	ENST00000372844.3	-	2	512	c.121G>A	c.(121-123)Ggc>Agc	p.G41S		NM_001282396.1|NM_001282397.1|NM_016257.2	NP_001269325.1|NP_001269326.1|NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	41	EF-hand 1.				central nervous system development	intracellular	calcium ion binding			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTGAGGATGCCGCTGGGGCAG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	52	56			NA	NA	1		NA											NA				40150155		2203	4300	6503	SO:0001583	missense			AB001105	CCDS441.1, CCDS72761.1	1p34.2	2013-01-10			ENSG00000116983	ENSG00000116983	51440	51440		EF-hand domain containing	18212	protein-coding gene	gene with protein product					NA	10520747	Standard	NM_016257	NM_016257	NA	Approved	HLP4, DKFZp761G122	uc001cdr.3	Q9UM19	OTTHUMG00000009246	ENST00000372844.3:c.121G>A	1.37:g.40150155C>T	ENSP00000361935:p.Gly41Ser	NA	B2R5U2|D3DPU1|Q5TG97|Q8N611	37	CCDS441.1	.	.	.	.	.	.	.	.	.	.	C	36	5.704217	0.96812	.	.	ENSG00000116983	ENST00000372844;ENST00000450300	T	0.79247	-1.25	4.4	4.4	0.53042	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.92632	0.7659	H	0.98048	4.135	0.80722	D	1	P;D	0.89917	0.691;1.0	B;D	0.78314	0.195;0.991	D	0.95576	0.8642	10	0.87932	D	0	.	17.8549	0.88760	0.0:1.0:0.0:0.0	.	41;41	B4DGW9;Q9UM19	.;HPCL4_HUMAN	S	41;33	ENSP00000361935:G41S	ENSP00000361935:G41S	G	-	1	0	HPCAL4	39922742	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.658000	0.83755	2.378000	0.81104	0.561000	0.74099	GGC	HPCAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025640.1		-	ENST00000372844.3	Missense_Mutation	SNP	1 : 40150155 - 40150155 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	149	14
BIRC6	57448	broad.mit.edu	37	2	32702455	32702455	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32702455G>A	ENST00000421745.2	+	35	7006	c.6872G>A	c.(6871-6873)cGt>cAt	p.R2291H		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2291					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GATTTAATTCGTTTACGTCGG	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(94;175 1509 16028 18060 45422)							NA				0													120	117	118			NA	NA	2		NA											NA				32702455		2203	4300	6503	SO:0001583	missense			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760	57448	57448		Baculoviral IAP repeat containing, Ubiquitin-conjugating enzymes E2	13516	protein-coding gene	gene with protein product	apollon	605638	baculoviral IAP repeat-containing 6		NA	10544019	Standard	NM_016252	NM_016252	NA	Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.6872G>A	2.37:g.32702455G>A	ENSP00000393596:p.Arg2291His	NA	Q9ULD1	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	33	5.261329	0.95368	.	.	ENSG00000115760	ENST00000421745	T	0.75260	-0.92	5.71	5.71	0.89125	.	0.139716	0.48767	D	0.000174	D	0.83533	0.5275	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.83807	0.0239	10	0.62326	D	0.03	.	19.8557	0.96758	0.0:0.0:1.0:0.0	.	2291	Q9NR09	BIRC6_HUMAN	H	2291	ENSP00000393596:R2291H	ENSP00000393596:R2291H	R	+	2	0	BIRC6	32555959	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	9.727000	0.98787	2.694000	0.91930	0.585000	0.79938	CGT	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318769.3		+	ENST00000421745.2	Missense_Mutation	SNP	2 : 32702455 - 32702455 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	531	133
LILRA2	11027	broad.mit.edu	37	19	55086036	55086036	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55086036G>A	ENST00000391737.1	+	2	341	c.303G>A	c.(301-303)gaG>gaA	p.E101E	LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000251377.3_Silent_p.E113E|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Silent_p.E113E|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Silent_p.E113E					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	NA										breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		ACCCCCTGGAGCTGGTGGTGA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	63	65			NA	NA	19		NA											NA				55086036		2203	4300	6503	SO:0001819	synonymous_variant			U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998	NA	11027		Leukocyte immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	6603	protein-coding gene	gene with protein product		604812			NA	9079806, 9548455	Standard		XM_005258452	NA	Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000391737.1:c.303G>A	19.37:g.55086036G>A		NA		37																																																																																				LILRA2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000140814.1		+	ENST00000391737.1	Silent	SNP	19 : 55086036 - 55086036 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	373	74
PAQR8	85315	broad.mit.edu	37	6	52268953	52268953	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52268953C>T	ENST00000442253.2	+	2	1116	c.942C>T	c.(940-942)cgC>cgT	p.R314R	PAQR8_ENST00000360726.3_Silent_p.R314R	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	314					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					TCCTGCAGCGCCATGGACCCC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	46	46			NA	NA	6		NA											NA				52268953		2203	4300	6503	SO:0001819	synonymous_variant			AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915	85315	85315			15708	protein-coding gene	gene with protein product		607780	chromosome 6 open reading frame 33	C6orf33	NA	11676489, 12574519	Standard	NM_133367	NM_133367	NA	Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.942C>T	6.37:g.52268953C>T		NA	B2RCF6|Q86WL0|Q8N6D3|Q9HD02	37	CCDS4941.1																																																																																			PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040903.2		+	ENST00000442253.2	Silent	SNP	6 : 52268953 - 52268953 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	200	28
EXOC7	23265	broad.mit.edu	37	17	74090663	74090663	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74090663C>T	ENST00000589210.1	-	6	706		c.e6-1		EXOC7_ENST00000607838.1_Splice_Site|EXOC7_ENST00000335146.7_Splice_Site|EXOC7_ENST00000411744.2_Splice_Site|EXOC7_ENST00000467929.2_Splice_Site|EXOC7_ENST00000332065.5_Splice_Site|EXOC7_ENST00000405575.4_Splice_Site	NM_001013839.2	NP_001013861.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	NA					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TTCATGAAATCTGAGGAGACA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	97	98			NA	NA	17		NA											NA				74090663		2203	4300	6503	SO:0001630	splice_region_variant			BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473	23265	23265			23214	protein-coding gene	gene with protein product		608163			NA	12477932	Standard	NM_015219	NM_001013839	NA	Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000589210.1:c.641-1G>A	17.37:g.74090663C>T		NA	B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	37	CCDS32738.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274432	0.59649	.	.	ENSG00000182473	ENST00000332065;ENST00000351709;ENST00000405575;ENST00000335146;ENST00000357231;ENST00000425372;ENST00000411744;ENST00000405068;ENST00000420116	.	.	.	4.84	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5218	0.61572	0.0:0.8435:0.1565:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EXOC7	71602258	1.000000	0.71417	0.992000	0.48379	0.792000	0.44763	7.284000	0.78650	1.240000	0.43803	-0.312000	0.09012	.	EXOC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319763.2	Intron	-	ENST00000589210.1	Splice_Site	SNP	17 : 74090663 - 74090663 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	488	91
PSD4	23550	broad.mit.edu	37	2	113955419	113955419	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113955419G>A	ENST00000441564.3	+	14	2635	c.2466G>A	c.(2464-2466)acG>acA	p.T822T	PSD4_ENST00000245796.6_Silent_p.T851T			Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	NA	PH.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	p.T851T(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCCCGCCACGCATTACACCA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	endometrium(1)											32	33	33			NA	NA	2		NA											NA				113955419		2203	4300	6503	SO:0001819	synonymous_variant			U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637	23550	23550		Pleckstrin homology (PH) domain containing	19096	protein-coding gene	gene with protein product		614442			NA	12082148	Standard	NM_012455	XM_005263634	NA	Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000441564.3:c.2466G>A	2.37:g.113955419G>A		NA	A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	37																																																																																				PSD4-003	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000330791.3		+	ENST00000441564.3	Silent	SNP	2 : 113955419 - 113955419 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	286	48
TBC1D22A	25771	broad.mit.edu	37	22	47193447	47193447	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:47193447G>A	ENST00000337137.4	+	4	733	c.567G>A	c.(565-567)gcG>gcA	p.A189A	TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000380995.1_Silent_p.A142A|TBC1D22A_ENST00000406733.1_Silent_p.A142A|TBC1D22A_ENST00000407381.3_Intron	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	189						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GCAGCTCAGCGCTGAGCGAAA	0.647		NA									OREG0026659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	33	34			NA	NA	22		NA											NA				47193447		2203	4300	6503	SO:0001819	synonymous_variant			AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611	25771	25771			1309	protein-coding gene	gene with protein product			chromosome 22 open reading frame 4	C22orf4	NA		Standard	NM_014346	XM_005261496	NA	Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.567G>A	22.37:g.47193447G>A		945	B0QYI2|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	37	CCDS14078.1																																																																																			TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317600.3		+	ENST00000337137.4	Silent	SNP	22 : 47193447 - 47193447 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	299	59
GATA3	2625	broad.mit.edu	37	10	8115837	8115837	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:8115837G>A	ENST00000379328.3	+	6	1754	c.1186G>A	c.(1186-1188)Gcc>Acc	p.A396T	GATA3_ENST00000346208.3_Missense_Mutation_p.A395T|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	395					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TAACCCGGCCGCCCTCTCCAG	0.562		NA	F, N, S		breast		HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)						G	1	5e-04	NA	NA	2184	0.0017	0.9998	,	,	NA	3e-04	NA	NA	NA	6e-04	0.8218	EXOME	NA	NA	5e-04	SNP			Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0													101	101	101			NA	NA	10		NA											NA				8115837		2203	4300	6503	SO:0001583	missense			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485	2625	2625		GATA zinc finger domain containing	4172	protein-coding gene	gene with protein product		131320	GATA-binding protein 3		NA	2050118, 15087456	Standard	NM_001002295	NM_002051	NA	Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000379328.3:c.1186G>A	10.37:g.8115837G>A	ENSP00000368632:p.Ala396Thr	NA	Q5VWG7|Q5VWG8|Q96J16	37	CCDS31143.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	14.38	2.517688	0.44763	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.96587	-4.06;-4.03	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.97424	0.9157	L	0.55481	1.735	0.58432	D	0.999998	D;P	0.76494	0.999;0.588	D;B	0.75020	0.985;0.239	D	0.97524	1.0075	10	0.48119	T	0.1	-12.9454	18.8714	0.92317	0.0:0.0:1.0:0.0	.	395;396	P23771;P23771-2	GATA3_HUMAN;.	T	396;395	ENSP00000368632:A396T;ENSP00000341619:A395T	ENSP00000341619:A395T	A	+	1	0	GATA3	8155843	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.707000	0.68370	2.447000	0.82792	0.462000	0.41574	GCC	GATA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046718.1		+	ENST00000379328.3	Missense_Mutation	SNP	10 : 8115837 - 8115837 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	676	128
MAN2A2	4122	broad.mit.edu	37	15	91463007	91463007	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91463007G>A	ENST00000559717.1	+	23	3902	c.3443G>A	c.(3442-3444)cGc>cAc	p.R1148H	MAN2A2_ENST00000431652.2_Missense_Mutation_p.R656H|MAN2A2_ENST00000360468.3_Missense_Mutation_p.R1148H|MAN2A2_ENST00000430376.2_Missense_Mutation_p.R338H			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	1148					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TTTCGCCTCCGCTTGGGTTAG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	115	122			NA	NA	15		NA											NA				91463007		2198	4298	6496	SO:0001583	missense			L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547	4122	4122			6825	protein-coding gene	gene with protein product		600988			NA	8524845	Standard	NM_006122	NM_006122	NA	Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.3443G>A	15.37:g.91463007G>A	ENSP00000452948:p.Arg1148His	NA	A6NH12|A8K1E8|Q13754	37	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227900	0.58777	.	.	ENSG00000196547	ENST00000360468;ENST00000431652;ENST00000430376	D;D;D	0.83419	-1.72;-1.72;-1.72	5.24	5.24	0.73138	Glycoside hydrolase-type carbohydrate-binding (1);	0.128109	0.52532	D	0.000073	T	0.78451	0.4285	L	0.52759	1.655	0.51233	D	0.99991	P;P;B	0.37636	0.603;0.603;0.051	B;B;B	0.28709	0.093;0.059;0.023	T	0.79818	-0.1643	10	0.48119	T	0.1	-29.5313	19.2433	0.93891	0.0:0.0:1.0:0.0	.	656;776;1148	B4DEU9;B4DIK4;P49641	.;.;MA2A2_HUMAN	H	1148;656;338	ENSP00000353655:R1148H;ENSP00000388221:R656H;ENSP00000394372:R338H	ENSP00000353655:R1148H	R	+	2	0	MAN2A2	89264011	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	4.440000	0.59975	2.636000	0.89361	0.555000	0.69702	CGC	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418246.5		+	ENST00000559717.1	Missense_Mutation	SNP	15 : 91463007 - 91463007 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	389	15
C2orf69	205327	broad.mit.edu	37	2	200790131	200790131	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200790131C>T	ENST00000319974.5	+	2	863	c.680C>T	c.(679-681)aCg>aTg	p.T227M	C2orf69_ENST00000491721.1_Intron	NM_153689.5	NP_710156.3	Q8N8R5	CB069_HUMAN	chromosome 2 open reading frame 69	227						extracellular region				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)|stomach(1)|urinary_tract(1)	11						TCTCATACTACGAATGGTTGC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	57	57			NA	NA	2		NA											NA				200790131		1840	4101	5941	SO:0001583	missense				CCDS46482.1	2q33.1	2008-08-08			ENSG00000178074	ENSG00000178074	205327	205327			26799	protein-coding gene	gene with protein product	hypothetical protein FLJ38973				NA	12477932	Standard	NM_153689	NM_153689	NA	Approved	FLJ38973	uc010zhb.2	Q8N8R5	OTTHUMG00000154480	ENST00000319974.5:c.680C>T	2.37:g.200790131C>T	ENSP00000312770:p.Thr227Met	NA	Q8NE30	37	CCDS46482.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.117427	0.56505	.	.	ENSG00000178074	ENST00000319974	.	.	.	5.32	4.45	0.53987	.	0.377447	0.20781	N	0.085794	T	0.65811	0.2727	L	0.39898	1.24	0.37250	D	0.906511	D	0.76494	0.999	D	0.63033	0.91	T	0.72890	-0.4155	9	0.72032	D	0.01	-9.0066	14.2091	0.65753	0.0:0.816:0.184:0.0	.	227	Q8N8R5	CB069_HUMAN	M	227	.	ENSP00000312770:T227M	T	+	2	0	C2orf69	200498376	0.816000	0.29132	0.993000	0.49108	0.959000	0.62525	2.848000	0.48278	1.467000	0.48044	0.655000	0.94253	ACG	C2orf69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335446.1		+	ENST00000319974.5	Missense_Mutation	SNP	2 : 200790131 - 200790131 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	27
SNX13	23161	broad.mit.edu	37	7	17915361	17915361	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:17915361A>C	ENST00000409389.1	-	6	665	c.493T>G	c.(493-495)Ttt>Gtt	p.F165V	SNX13_ENST00000428135.3_Missense_Mutation_p.F165V			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	165	PXA.				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TGTGTGCCAAAGTCATCTACA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	123	128			NA	NA	7		NA											NA				17915361		1829	4084	5913	SO:0001583	missense			AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189	23161	23161		Sorting nexins	21335	protein-coding gene	gene with protein product		606589			NA	11485546, 11729322	Standard	NM_015132	NM_015132	NA	Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.493T>G	7.37:g.17915361A>C	ENSP00000386705:p.Phe165Val	NA	B2RCI9|O94821|Q8WVZ2|Q8WXH8	37		.	.	.	.	.	.	.	.	.	.	A	16.29	3.080667	0.55753	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.16457	2.34;2.6	5.5	5.5	0.81552	Phox-associated domain (2);PX-associated, sorting nexin 13 (1);	0.000000	0.85682	D	0.000000	T	0.19927	0.0479	L	0.52905	1.665	0.80722	D	1	P;B;P	0.37207	0.587;0.437;0.459	B;B;B	0.42319	0.383;0.349;0.264	T	0.02026	-1.1227	10	0.05620	T	0.96	-15.2192	15.6101	0.76710	1.0:0.0:0.0:0.0	.	165;165;165	Q9Y5W8;B8ZZT9;Q9Y5W8-2	SNX13_HUMAN;.;.	V	165;165;213	ENSP00000386705:F165V;ENSP00000398789:F165V	ENSP00000242044:F213V	F	-	1	0	SNX13	17881886	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.472000	0.90407	2.074000	0.62210	0.533000	0.62120	TTT	SNX13-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000327608.1		-	ENST00000409389.1	Missense_Mutation	SNP	7 : 17915361 - 17915361 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	118	20
SYT13	57586	broad.mit.edu	37	11	45265679	45265679	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45265679G>T	ENST00000020926.3	-	6	1316	c.1205C>A	c.(1204-1206)tCt>tAt	p.S402Y		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	402						transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						GCTGCGCTCAGAGCCCGAGGT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	65	64			NA	NA	11		NA											NA				45265679		2203	4299	6502	SO:0001583	missense			AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505	57586	57586		Synaptotagmins	14962	protein-coding gene	gene with protein product		607716			NA	11171101	Standard	NM_020826	NM_020826	NA	Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.1205C>A	11.37:g.45265679G>T	ENSP00000020926:p.Ser402Tyr	NA	A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	37	CCDS31470.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618315	0.66787	.	.	ENSG00000019505	ENST00000020926	T	0.06933	3.24	5.54	5.54	0.83059	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.313001	0.29286	N	0.012600	T	0.12518	0.0304	L	0.47190	1.495	0.36781	D	0.884328	B	0.33448	0.412	B	0.34722	0.188	T	0.06023	-1.0850	10	0.59425	D	0.04	.	19.4948	0.95067	0.0:0.0:1.0:0.0	.	402	Q7L8C5	SYT13_HUMAN	Y	402	ENSP00000020926:S402Y	ENSP00000020926:S402Y	S	-	2	0	SYT13	45222255	1.000000	0.71417	0.947000	0.38551	0.937000	0.57800	7.622000	0.83099	2.615000	0.88500	0.655000	0.94253	TCT	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390110.1		-	ENST00000020926.3	Missense_Mutation	SNP	11 : 45265679 - 45265679 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	429	94
CEP152	22995	broad.mit.edu	37	15	49030524	49030524	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49030524C>A	ENST00000380950.2	-	27	5242	c.5055G>T	c.(5053-5055)caG>caT	p.Q1685H	CEP152_ENST00000399334.3_Missense_Mutation_p.Q1629H	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1629					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTCTTGAAGGCTGCTGACACA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	116	119			NA	NA	15		NA											NA				49030524		1875	4096	5971	SO:0001583	missense			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20					22995	22995			29298	protein-coding gene	gene with protein product	asterless	613529	microcephaly, primary autosomal recessive 4	MCPH4	NA	14654843, 21131973	Standard	NM_014985	NM_014985	NA	Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.5055G>T	15.37:g.49030524C>A	ENSP00000370337:p.Gln1685His	NA	Q17RV1|Q6NTA0	37	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923478	0.73213	.	.	ENSG00000103995	ENST00000399334	T	0.54675	0.56	4.76	3.85	0.44370	.	0.363112	0.20109	N	0.099049	T	0.41743	0.1172	L	0.27053	0.805	0.26648	N	0.972153	P	0.45827	0.867	P	0.44946	0.465	T	0.24119	-1.0169	10	0.46703	T	0.11	-0.917	8.8499	0.35192	0.0:0.7633:0.0:0.2367	.	1629	O94986	CE152_HUMAN	H	1629	ENSP00000382271:Q1629H	ENSP00000382271:Q1629H	Q	-	3	2	CEP152	46817816	0.014000	0.17966	0.403000	0.26384	0.717000	0.41224	0.208000	0.17415	1.231000	0.43661	0.563000	0.77884	CAG	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417365.1		-	ENST00000380950.2	Missense_Mutation	SNP	15 : 49030524 - 49030524 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	380	44
UBAP2L	9898	broad.mit.edu	37	1	154232488	154232488	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154232488C>T	ENST00000361546.2	+	21	2603	c.2561C>T	c.(2560-2562)gCc>gTc	p.A854V	UBAP2L_ENST00000271877.7_Missense_Mutation_p.A865V|UBAP2L_ENST00000428931.1_Missense_Mutation_p.A854V|UBAP2L_ENST00000343815.6_Missense_Mutation_p.A854V			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	854					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGTAGCCTGGCCAGCAACCCT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	88	89			NA	NA	1		NA											NA				154232488		2203	4300	6503	SO:0001583	missense			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569	9898	9898			29877	protein-coding gene	gene with protein product					NA	8590280, 11230159	Standard	NM_014847	NM_014847	NA	Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.2561C>T	1.37:g.154232488C>T	ENSP00000355343:p.Ala854Val	NA	B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL5	37	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.798759	0.70567	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000456955;ENST00000433006;ENST00000271877;ENST00000361546	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	5.06	5.06	0.68205	.	0.183950	0.47852	D	0.000212	T	0.38558	0.1045	L	0.48642	1.525	0.37479	D	0.915909	D;B;B;B;P;B;P	0.57257	0.979;0.069;0.039;0.039;0.634;0.008;0.94	P;B;B;B;B;B;P	0.58130	0.833;0.037;0.023;0.023;0.204;0.015;0.771	T	0.30090	-0.9990	10	0.87932	D	0	-4.4735	13.9417	0.64059	0.0:0.8354:0.1646:0.0	.	768;865;847;854;350;854;854	B4DZJ6;F8W726;Q14157-4;Q14157-1;C9JD99;Q14157-3;Q14157	.;.;.;.;.;.;UBP2L_HUMAN	V	854;854;350;350;865;854	ENSP00000345308:A854V;ENSP00000389445:A854V;ENSP00000271877:A865V;ENSP00000355343:A854V	ENSP00000271877:A865V	A	+	2	0	UBAP2L	152499112	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.751000	0.55165	2.621000	0.88768	0.650000	0.86243	GCC	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087673.1		+	ENST00000361546.2	Missense_Mutation	SNP	1 : 154232488 - 154232488 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	571	78
SLC4A11	83959	broad.mit.edu	37	20	3212030	3212030	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3212030C>T	ENST00000380059.3	-	8	1124	c.1023G>A	c.(1021-1023)gcG>gcA	p.A341A	SLC4A11_ENST00000380056.3_Silent_p.A314A|SLC4A11_ENST00000539553.2_Silent_p.A298A	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	314					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						TCGTTCTCGGCGCCACTGGAC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(190;922 2139 10266 10292 38692)							NA				0													79	77	78			NA	NA	20		NA											NA				3212030		2203	4300	6503	SO:0001819	synonymous_variant			AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836	83959	83959		Solute carriers	16438	protein-coding gene	gene with protein product		610206	corneal endothelial dystrophy 2 (autosomal recessive), solute carrier family 4, sodium bicarbonate transporter-like, member 11, corneal dystrophy and perceptive deafness 1	CHED2, CDPD1	NA	10843999, 11302728, 16767101	Standard		NM_001174089	NA	Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380059.3:c.1023G>A	20.37:g.3212030C>T		NA	Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	37	CCDS54445.1																																																																																			SLC4A11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077727.2		-	ENST00000380059.3	Silent	SNP	20 : 3212030 - 3212030 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	74
SPATA31D1	389763	broad.mit.edu	37	9	84609877	84609877	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:84609877C>T	ENST00000344803.2	+	4	4539	c.4492C>T	c.(4492-4494)Cag>Tag	p.Q1498*		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1	NA											NA						CAAGGACAGACAGCCCCAGAA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	58	58			NA	NA	9		NA											NA				84609877		2027	4175	6202	SO:0001587	stop_gained				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929	389763	389763			37283	protein-coding gene	gene with protein product			family with sequence similarity 75, member D1	FAM75D1	NA		Standard	NM_001001670	NM_001001670	NA	Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.4492C>T	9.37:g.84609877C>T	ENSP00000341988:p.Gln1498*	NA		37	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	37	6.041485	0.97226	.	.	ENSG00000214929	ENST00000344803	.	.	.	2.67	-5.34	0.02705	.	.	.	.	.	.	.	.	.	.	.	0.53688	D	0.999976	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	10.7897	0.1504	0.00092	0.3035:0.2159:0.1499:0.3307	.	.	.	.	X	1498	.	ENSP00000341988:Q1498X	Q	+	1	0	FAM75D1	83799697	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.617000	0.05584	-1.408000	0.02040	-0.895000	0.02911	CAG	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402325.1		+	ENST00000344803.2	Nonsense_Mutation	SNP	9 : 84609877 - 84609877 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	217	29
ATP8B1	5205	broad.mit.edu	37	18	55362414	55362414	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:55362414A>G	ENST00000283684.4	-	9	928	c.929T>C	c.(928-930)gTc>gCc	p.V310A	RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.V310A			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	310					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TGCAAAAATGACTAAGCCGTG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	76	76			NA	NA	18		NA											NA				55362414		2203	4300	6503	SO:0001583	missense			AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923	5205	5205		ATPases / P-type	3706	protein-coding gene	gene with protein product		602397	ATPase, Class I, type 8B, member 1, ATPase, class I, type 8B, member 1	FIC1, BRIC, PFIC1	NA	9500542, 7655458	Standard	NM_005603	NM_005603	NA	Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.929T>C	18.37:g.55362414A>G	ENSP00000283684:p.Val310Ala	NA	Q9BTP8	37	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	A	18.75	3.690660	0.68271	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	D;D	0.95342	-3.68;-3.68	5.34	5.34	0.76211	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.121704	0.53938	D	0.000042	D	0.93184	0.7829	L	0.55834	1.745	0.80722	D	1	P	0.40000	0.698	B	0.41174	0.349	D	0.93818	0.7116	10	0.87932	D	0	.	14.9861	0.71348	1.0:0.0:0.0:0.0	.	310	O43520	AT8B1_HUMAN	A	310	ENSP00000283684:V310A;ENSP00000445359:V310A	ENSP00000283684:V310A	V	-	2	0	ATP8B1	53513412	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	9.100000	0.94213	2.025000	0.59659	0.533000	0.62120	GTC	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256097.1		-	ENST00000283684.4	Missense_Mutation	SNP	18 : 55362414 - 55362414 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	60
NOL8	55035	broad.mit.edu	37	9	95077969	95077969	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95077969G>A	ENST00000535387.1	-	6	937	c.938C>T	c.(937-939)gCg>gTg	p.A313V	NOL8_ENST00000442668.2_Missense_Mutation_p.A313V|NOL8_ENST00000542053.1_Missense_Mutation_p.A245V|NOL8_ENST00000545558.1_Missense_Mutation_p.A313V|NOL8_ENST00000358855.4_Missense_Mutation_p.A245V			Q76FK4	NOL8_HUMAN	nucleolar protein 8	313					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TTCCTCTTTCGCAATCATCAT	0.368		NA											G	5	0.0023	NA	NA	2184	NA	1	,	,	NA	3e-04	0.01	NA	NA	0.0028	0.9921	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0								G	VAL/ALA	1,3715		0,1,1857	56	50	52		938	3.8	0.8	9		52	26,8162		0,26,4068	yes	missense	NOL8	NM_017948.5	64	0,27,5925	AA,AG,GG	NA	0.3175,0.0269,0.2268	probably-damaging	313/1168	95077969	27,11877	1858	4094	5952	SO:0001583	missense			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000	55035	55035		RNA binding motif (RRM) containing	23387	protein-coding gene	gene with protein product		611534	chromosome 9 open reading frame 34	C9orf34	NA	12477932	Standard	NM_017948	NM_017948	NA	Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.938C>T	9.37:g.95077969G>A	ENSP00000441300:p.Ala313Val	NA	Q5TCC7|Q5TCC8|Q5TCD3|Q5TCD5|Q5TCD6|Q5TCD7|Q76D35|Q7L3E2|Q9H586|Q9H795|Q9H7W7|Q9H9J6|Q9NWA4|Q9NWM4	37	CCDS47993.1	5	0.0022893772893772895	0	0.0	0	0.0	0	0.0	5	0.006596306068601583	G	15.25	2.779031	0.49891	2.69E-4	0.003175	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670;ENST00000433029	T;T;T;T;T;T;T	0.53640	2.18;2.2;2.18;2.4;2.2;1.91;0.61	5.68	3.77	0.43336	.	0.488728	0.22924	N	0.053997	T	0.32041	0.0816	L	0.38175	1.15	0.27918	N	0.938353	D	0.59767	0.986	P	0.45119	0.47	T	0.23797	-1.0178	10	0.72032	D	0.01	-1.3451	10.2172	0.43175	0.0:0.1172:0.4945:0.3883	.	313	Q76FK4	NOL8_HUMAN	V	313;315;245;313;313;245;313;313	ENSP00000401177:A313V;ENSP00000351723:A245V;ENSP00000441140:A313V;ENSP00000441300:A313V;ENSP00000440709:A245V;ENSP00000414112:A313V;ENSP00000412471:A313V	ENSP00000351723:A245V	A	-	2	0	NOL8	94117790	0.272000	0.24172	0.824000	0.32777	0.633000	0.38033	0.922000	0.28734	0.688000	0.31529	0.650000	0.86243	GCG	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053082.2		-	ENST00000535387.1	Missense_Mutation	SNP	9 : 95077969 - 95077969 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	102	14
DOCK5	80005	broad.mit.edu	37	8	25193798	25193798	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25193798G>A	ENST00000276440.7	+	22	2280	c.2236G>A	c.(2236-2238)Gac>Aac	p.D746N		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	746						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TAATGCAGATGACTCCAGCAA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(145;34 1887 3271 10937 30165)							NA				0													106	98	101			NA	NA	8		NA											NA				25193798		2203	4300	6503	SO:0001583	missense				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459	80005	80005			23476	protein-coding gene	gene with protein product					NA	12432077	Standard	NM_024940	NM_024940	NA	Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.2236G>A	8.37:g.25193798G>A	ENSP00000276440:p.Asp746Asn	NA	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	37	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.374598	0.42105	.	.	ENSG00000147459	ENST00000276440	T	0.22336	1.96	5.76	5.76	0.90799	Armadillo-type fold (1);	0.100113	0.64402	D	0.000002	T	0.30479	0.0766	M	0.71036	2.16	0.80722	D	1	B;B;B	0.30179	0.006;0.271;0.006	B;B;B	0.30716	0.004;0.119;0.004	T	0.03095	-1.1073	10	0.39692	T	0.17	.	20.3277	0.98707	0.0:0.0:1.0:0.0	.	736;521;746	D3DSS6;Q68DL4;Q9H7D0	.;.;DOCK5_HUMAN	N	746	ENSP00000276440:D746N	ENSP00000276440:D746N	D	+	1	0	DOCK5	25249715	1.000000	0.71417	0.969000	0.41365	0.320000	0.28249	6.701000	0.74624	2.879000	0.98667	0.650000	0.86243	GAC	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254955.2		+	ENST00000276440.7	Missense_Mutation	SNP	8 : 25193798 - 25193798 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	189	27
GCHFR	2644	broad.mit.edu	37	15	41059447	41059447	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41059447C>A	ENST00000559932.1	+	3	302	c.104C>A	c.(103-105)cCt>cAt	p.P35H	GCHFR_ENST00000260447.4_Missense_Mutation_p.P52H|GCHFR_ENST00000559445.1_Missense_Mutation_p.P41H|GCHFR_ENST00000558467.1_Missense_Mutation_p.P35H|GCHFR_ENST00000558670.1_3'UTR			P30047	GFRP_HUMAN	GTP cyclohydrolase I feedback regulator	52					negative regulation of biosynthetic process|neurotransmitter metabolic process|nitric oxide biosynthetic process	cytosol|dendrite|melanosome|nuclear membrane				endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)	6		all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GTCGATGACCCTCCCCGCATA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	102	105			NA	NA	15		NA											NA				41059447		2203	4300	6503	SO:0001583	missense			U78190	CCDS10064.1	15q15	2004-01-19	2004-05-20		ENSG00000137880	ENSG00000137880	2644	2644			4194	protein-coding gene	gene with protein product		602437	GTP cyclohydrolase I feedback regulatory protein		NA	8702680, 1286669	Standard	NM_005258	NM_005258	NA	Approved	GFRP, HsT16933	uc001zmr.1	P30047	OTTHUMG00000130069	ENST00000559932.1:c.104C>A	15.37:g.41059447C>A	ENSP00000454195:p.Pro35His	NA	B2R4L6|Q2M1Q2|Q99749	37		.	.	.	.	.	.	.	.	.	.	C	32	5.129110	0.94473	.	.	ENSG00000137880	ENST00000260447	.	.	.	5.63	5.63	0.86233	.	0.045192	0.85682	D	0.000000	D	0.82467	0.5043	.	.	.	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.67382	0.951;0.947	D	0.83786	0.0228	8	0.87932	D	0	-6.9784	19.6421	0.95762	0.0:1.0:0.0:0.0	.	41;52	B7ZLM8;P30047	.;GFRP_HUMAN	H	52	.	ENSP00000260447:P52H	P	+	2	0	GCHFR	38846739	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.313000	0.78978	2.815000	0.96918	0.561000	0.74099	CCT	GCHFR-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000418972.1		+	ENST00000559932.1	Missense_Mutation	SNP	15 : 41059447 - 41059447 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	743	63
TRIP10	9322	broad.mit.edu	37	19	6751138	6751138	+	Missense_Mutation	SNP	A	A	C	rs3210156		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6751138A>C	ENST00000600428.1	+	14	1876	c.1230A>C	c.(1228-1230)aaA>aaC	p.K410N	CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000313285.8_Missense_Mutation_p.K518N|TRIP10_ENST00000596758.1_Missense_Mutation_p.K528T|TRIP10_ENST00000313244.9_Missense_Mutation_p.K574N			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	574	Interaction with CDC42.|Interaction with PDE6G (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						AAGAAGACAAAGGGGACGGCT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	70	67			NA	NA	19		NA											NA				6751138		2203	4300	6503	SO:0001583	missense			AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733	9322	9322			12304	protein-coding gene	gene with protein product	Cdc42-interacting protein	604504	salt tolerator	STOT	NA	7776974, 9210375, 11294612	Standard		XM_005259683	NA	Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000600428.1:c.1230A>C	19.37:g.6751138A>C	ENSP00000471203:p.Lys410Asn	NA	B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.93|17.93	3.508009|3.508009	0.64410|0.64410	.|.	.|.	ENSG00000125733|ENSG00000125733	ENST00000313285;ENST00000313244|ENST00000420690	T;T|.	0.45276|.	0.9;0.9|.	4.74|4.74	-0.401|-0.401	0.12407|0.12407	Src homology-3 domain (4);|.	0.270973|0.270973	0.36134|0.36134	N|N	0.002772|0.002772	T|T	0.37598|0.37598	0.1009|0.1009	L|L	0.31207|0.31207	0.915|0.915	0.50171|0.50171	D|D	0.999853|0.999853	D;D|P	0.89917|0.39250	0.991;1.0|0.665	D;D|B	0.91635|0.39805	0.991;0.999|0.31	T|T	0.17048|0.17048	-1.0382|-1.0382	10|9	0.87932|0.87932	D|D	0|0	-25.5666|-25.5666	8.7794|8.7794	0.34783|0.34783	0.6617:0.0:0.3383:0.0|0.6617:0.0:0.3383:0.0	.|.	574;518|528	Q15642;Q15642-2|G5E9U1	CIP4_HUMAN;.|.	N|T	518;574|528	ENSP00000320493:K518N;ENSP00000320117:K574N|.	ENSP00000320117:K574N|ENSP00000415493:K528T	K|K	+|+	3|2	2|0	TRIP10|TRIP10	6702138|6702138	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.957000|0.957000	0.61999|0.61999	0.858000|0.858000	0.27845|0.27845	-0.116000|-0.116000	0.11893|0.11893	0.254000|0.254000	0.18369|0.18369	AAA|AAG	TRIP10-014	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000458012.1		+	ENST00000600428.1	Missense_Mutation	SNP	19 : 6751138 - 6751138 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	722	128
EXTL3	2137	broad.mit.edu	37	8	28575713	28575713	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28575713G>A	ENST00000220562.4	+	3	3039	c.2137G>A	c.(2137-2139)Gtc>Atc	p.V713I	EXTL3_ENST00000523149.1_Missense_Mutation_p.V329I|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	713						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TGACATTGGCGTCCCCATCAT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	94	94			NA	NA	8		NA											NA				28575713		2203	4300	6503	SO:0001583	missense			U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2137	2137	2.4.1.223	Exostosin glycosyltransferase family	3518	protein-coding gene	gene with protein product	REG receptor, glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase	605744	exostoses (multiple)-like 3		NA	9479495, 9450183, 11257457	Standard	NM_001440	NM_001440	NA	Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.2137G>A	8.37:g.28575713G>A	ENSP00000220562:p.Val713Ile	NA	D3DST8|O00225|Q53XT3	37	CCDS6070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.15|14.15	2.449679|2.449679	0.43531|0.43531	.|.	.|.	ENSG00000012232|ENSG00000012232	ENST00000521473|ENST00000523149;ENST00000220562	.|D;D	.|0.86694	.|-2.16;-2.16	5.91|5.91	5.91|5.91	0.95273|0.95273	.|EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	.|0.065273	.|0.64402	.|D	.|0.000008	D|D	0.86797|0.86797	0.6019|0.6019	L|L	0.52126|0.52126	1.63|1.63	0.58432|0.58432	D|D	0.999997|0.999997	.|D	.|0.53312	.|0.959	.|P	.|0.44696	.|0.458	D|D	0.85714|0.85714	0.1321|0.1321	5|10	.|0.38643	.|T	.|0.18	-40.094|-40.094	20.2946|20.2946	0.98546|0.98546	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|713	.|O43909	.|EXTL3_HUMAN	H|I	46|329;713	.|ENSP00000428691:V329I;ENSP00000220562:V713I	.|ENSP00000220562:V713I	R|V	+|+	2|1	0|0	EXTL3|EXTL3	28631632|28631632	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.978000|0.978000	0.69477|0.69477	6.074000|6.074000	0.71253|0.71253	2.804000|2.804000	0.96469|0.96469	0.462000|0.462000	0.41574|0.41574	CGT|GTC	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219987.3		+	ENST00000220562.4	Missense_Mutation	SNP	8 : 28575713 - 28575713 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	438	90
TAL2	6887	broad.mit.edu	37	9	108424910	108424910	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:108424910C>T	ENST00000334077.3	+	1	173	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C		NM_005421.2	NP_005412.1	Q16559	TAL2_HUMAN	T-cell acute lymphocytic leukemia 2	45	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				NA						TGAAACGCTTCGCCTGGCAAT	0.537		NA	T	TRB@	T-ALL								C	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	4e-04	SNP			Dom	yes		9	9q31	6887	T-cell acute lymphocytic leukemia 2		L	0													103	95	98			NA	NA	9		NA											NA				108424910		2203	4300	6503	SO:0001583	missense				CCDS6767.1	9q32	2013-05-21			ENSG00000186051	ENSG00000186051	6887	6887		Basic helix-loop-helix proteins	11557	protein-coding gene	gene with protein product		186855			NA	1763056	Standard	NM_005421	NM_005421	NA	Approved	bHLHa19	uc004bct.3	Q16559	OTTHUMG00000020424	ENST00000334077.3:c.133C>T	9.37:g.108424910C>T	ENSP00000334547:p.Arg45Cys	NA	A0AVI7	37	CCDS6767.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	23.6	4.435289	0.83885	.	.	ENSG00000186051	ENST00000334077	D	0.98280	-4.84	5.52	4.57	0.56435	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99245	0.9737	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98463	1.0597	10	0.87932	D	0	-13.6534	12.6354	0.56681	0.2812:0.7188:0.0:0.0	.	45	Q16559	TAL2_HUMAN	C	45	ENSP00000334547:R45C	ENSP00000334547:R45C	R	+	1	0	TAL2	107464731	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.625000	0.61262	2.757000	0.94681	0.655000	0.94253	CGC	TAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053504.1		+	ENST00000334077.3	Missense_Mutation	SNP	9 : 108424910 - 108424910 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	58
SASH1	23328	broad.mit.edu	37	6	148852683	148852683	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:148852683C>A	ENST00000367467.3	+	13	1925	c.1450C>A	c.(1450-1452)Cct>Act	p.P484T		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	484							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TGATGGAATGCCTGGCTCCCC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	72	74			NA	NA	6		NA											NA				148852683		2203	4300	6503	SO:0001583	missense			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961	23328	23328		SAM and SH3 domain containing, Sterile alpha motif (SAM) domain containing	19182	protein-coding gene	gene with protein product		607955			NA	9872452, 12771949	Standard	NM_015278	NM_015278	NA	Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1450C>A	6.37:g.148852683C>A	ENSP00000356437:p.Pro484Thr	NA	Q5TGN5|Q8TAI0|Q9H7R7	37	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519488	0.85495	.	.	ENSG00000111961	ENST00000367467;ENST00000535767	T	0.44881	0.91	5.43	5.43	0.79202	.	0.051988	0.85682	D	0.000000	T	0.50786	0.1636	L	0.39898	1.24	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.989	T	0.53034	-0.8495	10	0.66056	D	0.02	-16.1536	19.25	0.93921	0.0:1.0:0.0:0.0	.	465;484	Q6P4R9;O94885	.;SASH1_HUMAN	T	484;245	ENSP00000356437:P484T	ENSP00000356437:P484T	P	+	1	0	SASH1	148894376	1.000000	0.71417	0.171000	0.22900	0.073000	0.16967	4.652000	0.61454	2.560000	0.86352	0.655000	0.94253	CCT	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042619.1		+	ENST00000367467.3	Missense_Mutation	SNP	6 : 148852683 - 148852683 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	332	19
GPR116	221395	broad.mit.edu	37	6	46851895	46851895	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46851895C>A	ENST00000283296.7	-	5	730	c.442G>T	c.(442-444)Ggg>Tgg	p.G148W	GPR116_ENST00000456426.2_Missense_Mutation_p.G148W|GPR116_ENST00000265417.7_Missense_Mutation_p.G148W|GPR116_ENST00000362015.4_Missense_Mutation_p.G148W	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	148					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CAATGGTGCCCTGGGAGGAAG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(59;410 1274 8751 36715 50546)							NA				0													143	124	131			NA	NA	6		NA											NA				46851895		2203	4300	6503	SO:0001583	missense			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122	221395	221395		-, GPCR / Class B : Orphans, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	19030	protein-coding gene	gene with protein product					NA	12435584	Standard	NM_015234	NM_001098518	NA	Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.442G>T	6.37:g.46851895C>A	ENSP00000283296:p.Gly148Trp	NA	O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	37	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.571997	0.45798	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417	T;T;T;T	0.30981	1.52;1.91;1.51;1.52	5.17	5.17	0.71159	.	0.367868	0.24549	N	0.037572	T	0.45915	0.1366	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.81914	0.985;0.995;0.985	T	0.45175	-0.9279	10	0.87932	D	0	-11.1153	14.5188	0.67838	0.0:1.0:0.0:0.0	.	148;148;148	A8K0D8;Q8IZF2-3;Q8IZF2	.;.;GP116_HUMAN	W	148	ENSP00000283296:G148W;ENSP00000354563:G148W;ENSP00000412866:G148W;ENSP00000265417:G148W	ENSP00000265417:G148W	G	-	1	0	GPR116	46959854	0.979000	0.34478	0.920000	0.36463	0.148000	0.21650	2.084000	0.41625	2.572000	0.86782	0.655000	0.94253	GGG	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040806.2		-	ENST00000283296.7	Missense_Mutation	SNP	6 : 46851895 - 46851895 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	591	27
FAM26D	221301	broad.mit.edu	37	6	116879157	116879157	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116879157T>C	ENST00000368596.3	+	2	772	c.728T>C	c.(727-729)cTc>cCc	p.L243P	FAM26D_ENST00000405399.1_Missense_Mutation_p.L100P|FAM26D_ENST00000416171.2_Missense_Mutation_p.L99P|FAM26D_ENST00000368597.2_Missense_Mutation_p.L57P			Q5JW98	FA26D_HUMAN	family with sequence similarity 26, member D	243						integral to membrane				endometrium(1)|lung(5)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222)		TCTCGGCTCCTCATGATGCAT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	112	113			NA	NA	6		NA											NA				116879157		2203	4300	6503	SO:0001583	missense			AK056801	CCDS5109.1, CCDS59032.1	6q22.31	2008-02-05	2007-03-19	2007-03-19	ENSG00000164451	ENSG00000164451	221301	221301			21094	protein-coding gene	gene with protein product			chromosome 6 open reading frame 78	C6orf78	NA		Standard	NM_153036	NM_153036	NA	Approved	FLJ32239	uc010ked.4	Q5JW98	OTTHUMG00000015443	ENST00000368596.3:c.728T>C	6.37:g.116879157T>C	ENSP00000357585:p.Leu243Pro	NA	B0QZ25|B0QZ27|Q96MK0	37		.	.	.	.	.	.	.	.	.	.	T	15.27	2.784955	0.49997	.	.	ENSG00000164451	ENST00000416171;ENST00000368597;ENST00000452373;ENST00000405399;ENST00000368596	T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02	5.99	5.99	0.97316	.	0.376324	0.22983	N	0.053285	T	0.32376	0.0827	M	0.83774	2.66	0.28482	N	0.914892	D;D	0.69078	0.997;0.988	D;P	0.63192	0.912;0.824	T	0.43032	-0.9416	10	0.59425	D	0.04	-0.0094	9.6239	0.39739	0.2437:0.0:0.0:0.7563	.	99;243	B4DTQ0;Q5JW98	.;FA26D_HUMAN	P	99;57;57;100;243	ENSP00000416976:L99P;ENSP00000357586:L57P;ENSP00000409556:L57P;ENSP00000385836:L100P;ENSP00000357585:L243P	ENSP00000357585:L243P	L	+	2	0	FAM26D	116985850	0.815000	0.29118	0.080000	0.20451	0.593000	0.36681	2.404000	0.44539	2.296000	0.77279	0.533000	0.62120	CTC	FAM26D-002	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000041958.1		+	ENST00000368596.3	Missense_Mutation	SNP	6 : 116879157 - 116879157 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	610	54
FEZF2	55079	broad.mit.edu	37	3	62356929	62356929	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:62356929G>A	ENST00000283268.3	-	4	1377	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	FEZF2_ENST00000486811.1_Silent_p.F361F|FEZF2_ENST00000475839.1_Silent_p.F361F	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	361					transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		ATTCGCAGACGAAGGGCTTGT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(170;1772 2053 12525 15604 23984)							NA				0													114	109	111			NA	NA	3		NA											NA				62356929		2203	4300	6503	SO:0001819	synonymous_variant			AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266	55079	55079		Zinc fingers, C2H2-type	13506	protein-coding gene	gene with protein product		607414	zinc finger protein 312	ZNF312	NA		Standard	NM_018008	NM_018008	NA	Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.1083C>T	3.37:g.62356929G>A		NA	A8K349|Q9BZ91|Q9NWB9	37	CCDS2897.1																																																																																			FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351813.1		-	ENST00000283268.3	Silent	SNP	3 : 62356929 - 62356929 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	567	55
PSTK	118672	broad.mit.edu	37	10	124742796	124742796	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124742796G>A	ENST00000368887.3	+	3	957	c.517G>A	c.(517-519)Ggc>Agc	p.G173S	PSTK_ENST00000497219.1_3'UTR|PSTK_ENST00000405485.1_Missense_Mutation_p.G173S	NM_153336.2	NP_699167.2	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	173							ATP binding|kinase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		AGATTCGTTGGGCTTTTGCCA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	53	54			NA	NA	10		NA											NA				124742796		2203	4300	6503	SO:0001583	missense			AK127173	CCDS7633.1	10q26.13	2007-04-17	2007-04-17	2007-04-17	ENSG00000179988	ENSG00000179988	118672	118672			28578	protein-coding gene	gene with protein product		611310	chromosome 10 open reading frame 89	C10orf89	NA	15317934	Standard	NM_153336	NM_153336	NA	Approved	MGC35392	uc001lgy.1	Q8IV42	OTTHUMG00000019191	ENST00000368887.3:c.517G>A	10.37:g.124742796G>A	ENSP00000357882:p.Gly173Ser	NA	Q6ZSS9	37	CCDS7633.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.6|24.6	4.552661|4.552661	0.86127|0.86127	.|.	.|.	ENSG00000179988|ENSG00000179988	ENST00000368887;ENST00000405485|ENST00000406217	T;T|.	0.28454|.	1.61;1.61|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.77343|.	0.4116|.	M|M	0.75085|0.75085	2.285|2.285	0.50632|0.50632	D|D	0.999881|0.999881	D|.	0.65815|.	0.995|.	D|.	0.71656|.	0.974|.	T|.	0.75736|.	-0.3213|.	10|.	0.08179|.	T|.	0.78|.	-5.2141|-5.2141	18.9646|18.9646	0.92691|0.92691	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	173|.	Q8IV42|.	PSTK_HUMAN|.	S|X	173|173	ENSP00000357882:G173S;ENSP00000384764:G173S|.	ENSP00000357882:G173S|.	G|W	+|+	1|3	0|0	PSTK|PSTK	124732786|124732786	1.000000|1.000000	0.71417|0.71417	0.962000|0.962000	0.40283|0.40283	0.959000|0.959000	0.62525|0.62525	4.039000|4.039000	0.57325|0.57325	2.771000|2.771000	0.95319|0.95319	0.563000|0.563000	0.77884|0.77884	GGC|TGG	PSTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050811.1		+	ENST00000368887.3	Missense_Mutation	SNP	10 : 124742796 - 124742796 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	166	28
PTPRN	5798	broad.mit.edu	37	2	220162648	220162648	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220162648C>T	ENST00000295718.2	-	13	2086	c.1846G>A	c.(1846-1848)Ggg>Agg	p.G616R	PTPRN_ENST00000409251.3_Missense_Mutation_p.G587R|PTPRN_ENST00000423636.2_Missense_Mutation_p.G526R	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	616					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CCCTCAGGCCCCAGGGCTGCC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	19	19			NA	NA	2		NA											NA				220162648		2194	4290	6484	SO:0001583	missense				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356	5798	5798		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like	9676	protein-coding gene	gene with protein product		601773			NA	8024693	Standard		NM_001199763	NA	Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1846G>A	2.37:g.220162648C>T	ENSP00000295718:p.Gly616Arg	NA	Q08319|Q53QD6	37	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.819837	0.71028	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.05382	3.73;3.46;3.45	4.76	3.88	0.44766	.	0.000000	0.64402	D	0.000001	T	0.23370	0.0565	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.961	T	0.00975	-1.1494	10	0.87932	D	0	.	12.4672	0.55766	0.0:0.9188:0.0:0.0812	.	587;616	Q6NSL1;Q16849	.;PTPRN_HUMAN	R	587;616;587;526	ENSP00000386638:G587R;ENSP00000295718:G616R;ENSP00000444244:G526R	ENSP00000295718:G616R	G	-	1	0	PTPRN	219870892	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	5.002000	0.63952	1.229000	0.43630	0.655000	0.94253	GGG	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256819.2		-	ENST00000295718.2	Missense_Mutation	SNP	2 : 220162648 - 220162648 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	157	34
ZNF229	7772	broad.mit.edu	37	19	44932978	44932978	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44932978C>A	ENST00000291187.4	-	6	2282	c.1960G>T	c.(1960-1962)Gag>Tag	p.E654*	ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Nonsense_Mutation_p.E660*	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	660					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TTTCCGCACTCTTGGCATCTG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	123	123			NA	NA	19		NA											NA				44932978		2156	4278	6434	SO:0001587	stop_gained			AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318	7772	7772		Zinc fingers, C2H2-type, -	13022	protein-coding gene	gene with protein product					NA		Standard	NM_014518	XM_006723372	NA	Approved		uc002oze.1	Q9UJW7		ENST00000291187.4:c.1960G>T	19.37:g.44932978C>A	ENSP00000291187:p.Glu654*	NA	B2RWN3|Q59FV2|Q86WL9	37		.	.	.	.	.	.	.	.	.	.	C	38	7.183847	0.98121	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.5	-0.111	0.13576	.	.	.	.	.	.	.	.	.	.	.	0.46981	D	0.999279	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	5.1241	0.14875	0.165:0.6371:0.0:0.1979	.	.	.	.	X	660	.	ENSP00000291187:E660X	E	-	1	0	ZNF229	49624818	0.000000	0.05858	0.013000	0.15412	0.053000	0.15095	0.147000	0.16202	0.108000	0.17862	-0.208000	0.12717	GAG	ZNF229-001	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000460831.1		-	ENST00000291187.4	Nonsense_Mutation	SNP	19 : 44932978 - 44932978 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	757	39
TIAM1	7074	broad.mit.edu	37	21	32537345	32537345	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32537345C>T	ENST00000286827.3	-	17	3396	c.2925G>A	c.(2923-2925)gaG>gaA	p.E975E	TIAM1_ENST00000541036.1_Silent_p.E915E	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	975					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTGGAGCGGTCTCAGCACTGC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	73	75			NA	NA	21		NA											NA				32537345		2203	4300	6503	SO:0001819	synonymous_variant				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299	7074	7074		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	11805	protein-coding gene	gene with protein product		600687			NA	8595894, 15340013	Standard	NM_003253	NM_003253	NA	Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.2925G>A	21.37:g.32537345C>T		NA	Q17RT7	37	CCDS13609.1																																																																																			TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000192552.1		-	ENST00000286827.3	Silent	SNP	21 : 32537345 - 32537345 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	291	47
HDC	3067	broad.mit.edu	37	15	50534865	50534865	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50534865C>T	ENST00000267845.3	-	12	1983	c.1581G>A	c.(1579-1581)caG>caA	p.Q527Q	HDC_ENST00000543581.1_Silent_p.Q494Q	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	527					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CTCCCACACGCTGAGGCTGCT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(95;1627 1936 6910 9570)							NA				0													58	57	57			NA	NA	15		NA											NA				50534865		2196	4295	6491	SO:0001819	synonymous_variant				CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	3067	3067	4.1.1.22		4855	protein-coding gene	gene with protein product		142704			NA	1487235	Standard		NM_002112	NA	Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1581G>A	15.37:g.50534865C>T		NA	A1L4G0	37	CCDS10134.1																																																																																			HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254540.1		-	ENST00000267845.3	Silent	SNP	15 : 50534865 - 50534865 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	65
FAM184A	79632	broad.mit.edu	37	6	119337965	119337965	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:119337965C>A	ENST00000522284.1	-	5	1492	c.1117G>T	c.(1117-1119)Gca>Tca	p.A373S	FAM184A_ENST00000368475.4_Missense_Mutation_p.A373S|FAM184A_ENST00000521531.1_Missense_Mutation_p.A493S|FAM184A_ENST00000338891.7_Missense_Mutation_p.A493S|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Missense_Mutation_p.A373S			Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	493										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GCTTCAATTGCCATATGGTGC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	125	127			NA	NA	6		NA											NA				119337965		1824	4093	5917	SO:0001583	missense			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879	79632	79632			20991	protein-coding gene	gene with protein product			chromosome 6 open reading frame 60	C6orf60	NA	11230166	Standard	NM_024581	NM_024581	NA	Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000522284.1:c.1117G>T	6.37:g.119337965C>A	ENSP00000429826:p.Ala373Ser	NA	B9DI75|Q5TBS9|Q96GY8|Q9H0J8|Q9H851	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.38|18.38	3.611390|3.611390	0.66558|0.66558	.|.	.|.	ENSG00000111879|ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284|ENST00000448815	T;T;T;T;T|.	0.00333|.	8.07;8.07;8.07;8.07;8.07|.	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	0.172963|.	0.50627|.	D|.	0.000108|.	T|T	0.61022|0.61022	0.2314|0.2314	L|L	0.48362|0.48362	1.52|1.52	0.48236|0.48236	D|D	0.999613|0.999613	D;D;D|.	0.89917|.	0.998;1.0;0.999|.	D;D;D|.	0.83275|.	0.994;0.996;0.996|.	T|T	0.58498|0.58498	-0.7626|-0.7626	10|5	0.39692|.	T|.	0.17|.	-11.3991|-11.3991	18.6868|18.6868	0.91567|0.91567	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	493;373;493|.	Q8NB25-2;F8W8D6;Q8NB25|.	.;.;F184A_HUMAN|.	S|C	493;373;373;493;373|78	ENSP00000342604:A493S;ENSP00000326608:A373S;ENSP00000357460:A373S;ENSP00000430442:A493S;ENSP00000429826:A373S|.	ENSP00000342604:A493S|.	A|W	-|-	1|3	0|0	FAM184A|FAM184A	119379664|119379664	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.163000|3.163000	0.50763|0.50763	2.433000|2.433000	0.82419|0.82419	0.491000|0.491000	0.48974|0.48974	GCA|TGG	FAM184A-010	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000380869.2		-	ENST00000522284.1	Missense_Mutation	SNP	6 : 119337965 - 119337965 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	453	66
ERCC6L2	375748	broad.mit.edu	37	9	98669505	98669505	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:98669505C>T	ENST00000288985.7	+	4	1078	c.773C>T	c.(772-774)gCt>gTt	p.A258V	ERCC6L2_ENST00000466840.1_3'UTR|ERCC6L2_ENST00000437817.1_Missense_Mutation_p.A69V	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN	excision repair cross-complementation group 6-like 2	258	Helicase ATP-binding.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				NA						TGTGAAATTGCTCTAACAACT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	95	97			NA	NA	9		NA											NA				98669505		2203	4300	6503	SO:0001583	missense			BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150	375748	375748			26922	protein-coding gene	gene with protein product		615667	chromosome 9 open reading frame 102, excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	C9orf102	NA		Standard	NM_001010895	NM_001010895	NA	Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.773C>T	9.37:g.98669505C>T	ENSP00000288985:p.Ala258Val	NA	B2RTP8|Q49AM9|Q5T892|Q9NPM7	37	CCDS35072.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608227	0.46527	.	.	ENSG00000182150	ENST00000288985;ENST00000437817	D;D	0.89552	-2.53;-2.53	5.35	5.35	0.76521	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.53938	D	0.000047	T	0.68815	0.3042	N	0.00337	-1.62	0.80722	D	1	B;P	0.43231	0.285;0.801	B;B	0.39339	0.102;0.297	T	0.76865	-0.2801	10	0.18276	T	0.48	-17.7664	19.075	0.93158	0.0:1.0:0.0:0.0	.	69;258	Q5T890-2;Q5T890	.;RAD26_HUMAN	V	258;69	ENSP00000288985:A258V;ENSP00000416286:A69V	ENSP00000288985:A258V	A	+	2	0	C9orf102	97709326	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.110000	0.57831	2.502000	0.84385	0.591000	0.81541	GCT	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053247.2		+	ENST00000288985.7	Missense_Mutation	SNP	9 : 98669505 - 98669505 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	403	77
SEPP1	6414	broad.mit.edu	37	5	42808439	42808439	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:42808439C>T	ENST00000514985.1	-	2	273	c.17G>A	c.(16-18)gGg>gAg	p.G6E	SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000506577.1_Missense_Mutation_p.G6E|SEPP1_ENST00000511224.1_Missense_Mutation_p.G6E|SEPP1_ENST00000507920.1_Missense_Mutation_p.G6E	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	6					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						CAGGGCAAGCCCCAGGCTTCT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	20	20			NA	NA	5		NA											NA				42808439		1806	4062	5868	SO:0001583	missense			BC040075	CCDS43311.1	5q31	2012-03-01				ENSG00000250722	6414	6414			10751	protein-coding gene	gene with protein product		601484			NA	8421687	Standard	NM_005410	NM_001085486	NA	Approved	SeP	uc011cpu.2	P49908		ENST00000514985.1:c.17G>A	5.37:g.42808439C>T	ENSP00000420939:p.Gly6Glu	NA	Q6PD59|Q6PI43|Q6PI87|Q6PJF9	37	CCDS43311.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803324	0.70682	.	.	ENSG00000250722	ENST00000514985;ENST00000511224;ENST00000506577;ENST00000514218;ENST00000510965	T;T;T;T;T	0.51574	2.15;2.15;2.15;1.59;0.7	5.29	4.43	0.53597	.	0.149429	0.30428	U	0.009652	T	0.51584	0.1683	L	0.57536	1.79	0.29780	N	0.834089	.	.	.	.	.	.	T	0.55964	-0.8057	8	0.59425	D	0.04	.	9.392	0.38378	0.0:0.7799:0.1435:0.0766	.	.	.	.	E	6	ENSP00000420939:G6E;ENSP00000427671:G6E;ENSP00000425915:G6E;ENSP00000421626:G6E;ENSP00000427414:G6E	ENSP00000425915:G6E	G	-	2	0	SEPP1	42844196	0.993000	0.37304	1.000000	0.80357	0.990000	0.78478	2.911000	0.48774	1.221000	0.43506	0.650000	0.86243	GGG	SEPP1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	NA	protein_coding	OTTHUMT00000367483.1		-	ENST00000514985.1	Missense_Mutation	SNP	5 : 42808439 - 42808439 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	128	25
LRRK2	120892	broad.mit.edu	37	12	40697802	40697802	+	Missense_Mutation	SNP	G	G	A	rs143710836		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40697802G>A	ENST00000298910.7	+	27	3701	c.3643G>A	c.(3643-3645)Gca>Aca	p.A1215T	LRRK2_ENST00000343742.2_Missense_Mutation_p.A1215T	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1215					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACCAGGTCCCGCACACTGGAA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA	0,4406		0,0,2203	94	95	94		3643	3.5	0.9	12	dbSNP_134	94	4,8596	3.7+/-12.6	0,4,4296	yes	missense	LRRK2	NM_198578.3	58	0,4,6499	AA,AG,GG	NA	0.0465,0.0,0.0308	benign	1215/2528	40697802	4,13002	2203	4300	6503	SO:0001583	missense			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906	120892	120892		Parkinson disease	18618	protein-coding gene	gene with protein product		609007	Parkinson disease (autosomal dominant) 8	PARK8	NA	15541308	Standard	XM_058513	NM_198578	NA	Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3643G>A	12.37:g.40697802G>A	ENSP00000298910:p.Ala1215Thr	NA	A6NJU2|Q6ZS50|Q8NCX9	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.071280	0.36566	0.0	4.65E-4	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.72505	0.2;-0.66	5.37	3.51	0.40186	.	0.410140	0.26116	N	0.026250	T	0.42854	0.1221	N	0.17723	0.515	0.09310	N	1	P;B;P	0.38535	0.635;0.384;0.635	B;B;B	0.27380	0.079;0.038;0.079	T	0.28744	-1.0034	10	0.30854	T	0.27	.	2.0332	0.03534	0.1515:0.1347:0.4361:0.2777	.	1215;1215;1215	Q17RV3;E9PC85;Q5S007	.;.;LRRK2_HUMAN	T	1215	ENSP00000341930:A1215T;ENSP00000298910:A1215T	ENSP00000298910:A1215T	A	+	1	0	LRRK2	38984069	0.000000	0.05858	0.892000	0.35008	0.973000	0.67179	0.349000	0.20055	0.726000	0.32339	0.557000	0.71058	GCA	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277179.1		+	ENST00000298910.7	Missense_Mutation	SNP	12 : 40697802 - 40697802 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	446	90
CSPG4	1464	broad.mit.edu	37	15	75981992	75981992	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75981992C>T	ENST00000308508.5	-	3	1506	c.1414G>A	c.(1414-1416)Gtg>Atg	p.V472M		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	472	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCTCGGGTCACGCTGAACAGC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	60	61			NA	NA	15		NA											NA				75981992		2196	4290	6486	SO:0001583	missense			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546	1464	1464		Proteoglycans / Cell surface : Other	2466	protein-coding gene	gene with protein product	melanoma-associated chondroitin sulfate proteoglycan	601172	chondroitin sulfate proteoglycan 4 (melanoma-associated)		NA	8790396, 16407841	Standard	NM_001897	NM_001897	NA	Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1414G>A	15.37:g.75981992C>T	ENSP00000312506:p.Val472Met	NA	D3DW77|Q92675	37	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	12.28	1.889935	0.33348	.	.	ENSG00000173546	ENST00000308508	T	0.24350	1.86	5.12	4.14	0.48551	.	0.246882	0.28062	N	0.016759	T	0.35653	0.0939	L	0.56769	1.78	0.18873	N	0.999981	D	0.65815	0.995	P	0.54965	0.765	T	0.15321	-1.0441	10	0.72032	D	0.01	.	8.3235	0.32142	0.0:0.7519:0.1604:0.0877	.	472	Q6UVK1	CSPG4_HUMAN	M	472	ENSP00000312506:V472M	ENSP00000312506:V472M	V	-	1	0	CSPG4	73769047	0.989000	0.36119	0.993000	0.49108	0.113000	0.19764	2.504000	0.45416	2.375000	0.81037	0.555000	0.69702	GTG	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286472.1		-	ENST00000308508.5	Missense_Mutation	SNP	15 : 75981992 - 75981992 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	896	107
OR6A2	8590	broad.mit.edu	37	11	6816484	6816484	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6816484G>A	ENST00000332601.3	-	1	644	c.456C>T	c.(454-456)ggC>ggT	p.G152G		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAGCCCAAGAGCCAGCAGCCA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	71	71			NA	NA	11		NA											NA				6816484		2201	4296	6497	SO:0001819	synonymous_variant			AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933	8590	8590		GPCR / Class A : Olfactory receptors	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1	NA		Standard	NM_003696	NM_003696	NA	Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.456C>T	11.37:g.6816484G>A		NA	Q3MJC7|Q6IF35|Q9H206	37	CCDS7772.1																																																																																			OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385981.1		-	ENST00000332601.3	Silent	SNP	11 : 6816484 - 6816484 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	18
SSTR5	6755	broad.mit.edu	37	16	1129482	1129482	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1129482C>T	ENST00000293897.4	+	1	702	c.614C>T	c.(613-615)aCg>aTg	p.T205M	SSTR5_ENST00000562758.1_Missense_Mutation_p.T205M|SSTR5_ENST00000397547.2_Missense_Mutation_p.T205M	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	205					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	ATCATCTACACGGCCGTGCTG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	42	42			NA	NA	16		NA											NA				1129482		2183	4294	6477	SO:0001583	missense			D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009	NA	6755		GPCR / Class A : Somatostatin receptors	11334	protein-coding gene	gene with protein product		182455			NA	7607700	Standard		NM_001053	NA	Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.614C>T	16.37:g.1129482C>T	ENSP00000293897:p.Thr205Met	NA	P34988|Q9UJI5	37	CCDS10429.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563140	0.45694	.	.	ENSG00000162009	ENST00000397547;ENST00000293897;ENST00000539762	T;T	0.72615	-0.67;-0.67	4.76	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83050	0.5170	M	0.71871	2.18	0.51233	D	0.999918	D	0.89917	1.0	D	0.81914	0.995	D	0.84967	0.0880	10	0.59425	D	0.04	.	16.7462	0.85473	0.0:1.0:0.0:0.0	.	205	P35346	SSR5_HUMAN	M	205	ENSP00000380680:T205M;ENSP00000293897:T205M	ENSP00000293897:T205M	T	+	2	0	SSTR5	1069483	1.000000	0.71417	0.968000	0.41197	0.391000	0.30476	7.602000	0.82796	2.202000	0.70862	0.561000	0.74099	ACG	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000420836.1		+	ENST00000293897.4	Missense_Mutation	SNP	16 : 1129482 - 1129482 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	163	11
ADCK1	57143	broad.mit.edu	37	14	78392209	78392209	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78392209G>A	ENST00000238561.5	+	9	1210	c.1111G>A	c.(1111-1113)Ggg>Agg	p.G371R	ADCK1_ENST00000341211.5_Missense_Mutation_p.G303R|ADCK1_ENST00000556560.1_3'UTR	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	378	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		ACTGGGAGCCGGGGATCTCTA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	152	151			NA	NA	14		NA											NA				78392209		2203	4300	6503	SO:0001583	missense			AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30					57143	57143			19038	protein-coding gene	gene with protein product					NA	12471243	Standard	NM_020421	NM_020421	NA	Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.1111G>A	14.37:g.78392209G>A	ENSP00000238561:p.Gly371Arg	NA	Q6PD65	37	CCDS9869.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966020	0.92855	.	.	ENSG00000063761	ENST00000238561;ENST00000341211	T;T	0.68181	-0.31;1.1	5.26	5.26	0.73747	.	0.049936	0.85682	D	0.000000	D	0.83894	0.5353	M	0.86805	2.84	0.80722	D	1	D;D;D	0.65815	0.995;0.99;0.992	P;P;D	0.66979	0.823;0.868;0.948	D	0.85534	0.1211	10	0.49607	T	0.09	-20.5345	18.8748	0.92331	0.0:0.0:1.0:0.0	.	378;303;371	Q86TW2;Q9UIE6;Q86TW2-2	ADCK1_HUMAN;.;.	R	371;303	ENSP00000238561:G371R;ENSP00000339663:G303R	ENSP00000238561:G371R	G	+	1	0	ADCK1	77461962	1.000000	0.71417	0.385000	0.26158	0.882000	0.50991	9.818000	0.99354	2.461000	0.83175	0.643000	0.83706	GGG	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413864.1		+	ENST00000238561.5	Missense_Mutation	SNP	14 : 78392209 - 78392209 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1071	191
FER1L6	654463	broad.mit.edu	37	8	125047562	125047562	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:125047562C>T	ENST00000522917.1	+	19	2537	c.2331C>T	c.(2329-2331)gtC>gtT	p.V777V	FER1L6_ENST00000399018.1_Silent_p.V777V|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	777						integral to membrane		p.V777V(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAGCAAAAGTCGACGTGTACC	0.498		NA												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)											98	98	98			NA	NA	8		NA											NA				125047562		1948	4153	6101	SO:0001819	synonymous_variant			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814	654463	654463			28065	protein-coding gene	gene with protein product			fer-1-like 6 (C. elegans)		NA		Standard	NM_001039112	NM_001039112	NA	Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2331C>T	8.37:g.125047562C>T		NA		37	CCDS43767.1																																																																																			FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381400.1		+	ENST00000522917.1	Silent	SNP	8 : 125047562 - 125047562 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	517	30
ABTB2	25841	broad.mit.edu	37	11	34181856	34181856	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:34181856G>T	ENST00000435224.2	-	12	2866	c.2442C>A	c.(2440-2442)tgC>tgA	p.C814*	ABTB2_ENST00000298992.2_Nonsense_Mutation_p.C628*	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	628							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TGCTGCCATAGCAGTGGGTGA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	88	88			NA	NA	11		NA											NA				34181856		2202	4298	6500	SO:0001587	stop_gained			AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016	25841	25841		BTB/POZ domain containing, Ankyrin repeat domain containing	23842	protein-coding gene	gene with protein product					NA		Standard	NM_145804	NM_145804	NA	Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.2442C>A	11.37:g.34181856G>T	ENSP00000410157:p.Cys814*	NA		37	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	G	43	10.293582	0.99377	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.6005	18.4941	0.90858	0.0:0.0:1.0:0.0	.	.	.	.	X	814;628	.	ENSP00000298992:C628X	C	-	3	2	ABTB2	34138432	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.740000	0.62087	2.370000	0.80446	0.561000	0.74099	TGC	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388703.3		-	ENST00000435224.2	Nonsense_Mutation	SNP	11 : 34181856 - 34181856 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	269	46
IFT52	51098	broad.mit.edu	37	20	42233661	42233661	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42233661G>A	ENST00000373030.3	+	6	563	c.433G>A	c.(433-435)Gga>Aga	p.G145R	IFT52_ENST00000373039.4_Missense_Mutation_p.G145R	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	145						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCGAGCTGCAGGAAAGGCTGT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	99	99			NA	NA	20		NA											NA				42233661		2203	4300	6503	SO:0001583	missense			AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052	51098	51098		Intraflagellar transport homologs	15901	protein-coding gene	gene with protein product			chromosome 20 open reading frame 9, intraflagellar transport 52 homolog (Chlamydomonas)	C20orf9	NA	10810093	Standard	NM_016004	NM_016004	NA	Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.433G>A	20.37:g.42233661G>A	ENSP00000362121:p.Gly145Arg	NA	B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	37	CCDS33470.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012953	0.54468	.	.	ENSG00000101052	ENST00000373030;ENST00000373039	.	.	.	4.99	4.99	0.66335	.	0.049267	0.85682	D	0.000000	T	0.62368	0.2422	M	0.66506	2.035	0.80722	D	1	P	0.34934	0.476	B	0.33890	0.172	T	0.65957	-0.6042	9	0.48119	T	0.1	-7.7292	17.4356	0.87550	0.0:0.0:1.0:0.0	.	145	Q9Y366	IFT52_HUMAN	R	145	.	ENSP00000362121:G145R	G	+	1	0	IFT52	41667075	1.000000	0.71417	0.994000	0.49952	0.569000	0.35902	7.176000	0.77643	2.480000	0.83734	0.561000	0.74099	GGA	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079317.1		+	ENST00000373030.3	Missense_Mutation	SNP	20 : 42233661 - 42233661 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	244	36
SLITRK5	26050	broad.mit.edu	37	13	88329270	88329270	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:88329270T>G	ENST00000325089.6	+	2	1846	c.1627T>G	c.(1627-1629)Ttg>Gtg	p.L543V	SLITRK5_ENST00000400028.3_Missense_Mutation_p.L302V	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	543						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CTTCACCTCCTTGCCAGTGAG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	92	93			NA	NA	13		NA											NA				88329270		2203	4300	6503	SO:0001583	missense			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300	26050	26050			20295	protein-coding gene	gene with protein product		609680	leucine rich repeat containing 11	LRRC11	NA	10048485, 14557068	Standard		NM_015567	NA	Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1627T>G	13.37:g.88329270T>G	ENSP00000366283:p.Leu543Val	NA	B3KNB8|Q5VT81	37	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	T	14.04	2.415636	0.42817	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.59502	0.26;0.26	5.22	-0.313	0.12754	.	0.000000	0.64402	D	0.000004	T	0.60248	0.2254	L	0.38649	1.16	0.43942	D	0.996606	D;D	0.76494	0.999;0.995	D;D	0.79784	0.993;0.971	T	0.54221	-0.8326	9	.	.	.	-8.1908	9.6475	0.39877	0.0:0.6669:0.0:0.3331	.	302;543	B4DSH5;O94991	.;SLIK5_HUMAN	V	543;302	ENSP00000366283:L543V;ENSP00000442244:L302V	.	L	+	1	2	SLITRK5	87127271	0.893000	0.30496	0.991000	0.47740	0.939000	0.58152	0.049000	0.14099	-0.041000	0.13558	-0.421000	0.06004	TTG	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045416.3		+	ENST00000325089.6	Missense_Mutation	SNP	13 : 88329270 - 88329270 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	570	109
CYP4B1	1580	broad.mit.edu	37	1	47279222	47279222	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47279222G>A	ENST00000371919.4	+	4	519	c.519G>A	c.(517-519)gcG>gcA	p.A173A	CYP4B1_ENST00000452782.2_Silent_p.A25A|CYP4B1_ENST00000371923.4_Silent_p.A188A|CYP4B1_ENST00000271153.4_Silent_p.A188A			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	188			R -> W (in allele CYP4B1*3 and allele CYP4B1*6; dbSNP:rs4646487).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GTCACATGGCGCTGAACACAC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	103	105			NA	NA	1		NA											NA				47279222		2203	4300	6503	SO:0001819	synonymous_variant			BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973	1580	1580		Cytochrome P450s	2644	protein-coding gene	gene with protein product		124075	cytochrome P450, subfamily IVB, polypeptide 1		NA		Standard	NM_000779	NM_000779	NA	Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000371919.4:c.519G>A	1.37:g.47279222G>A		NA	Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	37	CCDS542.1																																																																																			CYP4B1-003	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021913.2		+	ENST00000371919.4	Silent	SNP	1 : 47279222 - 47279222 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	64
DEPDC4	120863	broad.mit.edu	37	12	100656045	100656045	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100656045C>T	ENST00000416321.1	-	3	699	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	233					intracellular signal transduction					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						AAATTACCTTCTTTTGAAAGC	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	75	75			NA	NA	12		NA											NA				100656045		2203	4299	6502	SO:0001583	missense			AK090824	CCDS9075.1	12q23	2006-03-30				ENSG00000166153	120863	120863			22952	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152317	XM_005268628	NA	Approved	DEP.4, FLJ33505	uc001thi.3	Q8N2C3		ENST00000416321.1:c.697G>A	12.37:g.100656045C>T	ENSP00000396234:p.Glu233Lys	NA	Q496C8|Q96BW0	37	CCDS9075.1	.	.	.	.	.	.	.	.	.	.	C	7.704	0.693806	0.15039	.	.	ENSG00000166153	ENST00000422147;ENST00000378250;ENST00000416321;ENST00000550587;ENST00000549249;ENST00000551642	T;T;T;T	0.35789	1.33;1.29;1.6;1.34	4.36	3.34	0.38264	.	1.536140	0.05008	N	0.470470	T	0.18467	0.0443	N	0.04203	-0.255	0.24219	N	0.995446	B;B;B;B	0.18310	0.0;0.0;0.027;0.004	B;B;B;B	0.13407	0.001;0.001;0.009;0.003	T	0.22417	-1.0217	10	0.27785	T	0.31	.	5.0182	0.14347	0.0:0.6158:0.0:0.3842	.	233;233;166;233	E9PGM3;A4FU15;Q3ZCN8;Q8N2C3	.;.;.;DEPD4_HUMAN	K	233;166;233;233;166;226	ENSP00000396234:E233K;ENSP00000448385:E233K;ENSP00000448338:E166K;ENSP00000449590:E226K	ENSP00000367490:E233K	E	-	1	0	DEPDC4	99180176	0.999000	0.42202	0.994000	0.49952	0.900000	0.52787	0.369000	0.20416	0.678000	0.31325	0.514000	0.50259	GAA	DEPDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408482.1		-	ENST00000416321.1	Missense_Mutation	SNP	12 : 100656045 - 100656045 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	276	55
SOX30	11063	broad.mit.edu	37	5	157073693	157073693	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:157073693A>G	ENST00000265007.6	-	3	1680	c.1339T>C	c.(1339-1341)Tac>Cac	p.Y447H	SOX30_ENST00000311371.5_Missense_Mutation_p.Y447H|SOX30_ENST00000519442.1_Missense_Mutation_p.Y142H	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	447					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACCACAGAGTACGTAGGTGAG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(31;525 799 19355 21125 41744)							NA				0													162	153	156			NA	NA	5		NA											NA				157073693		2203	4300	6503	SO:0001583	missense			AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600	11063	11063		SRY (sex determining region Y)-boxes	30635	protein-coding gene	gene with protein product		606698			NA	15019997, 11678506	Standard	NM_007017	NM_178424	NA	Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.1339T>C	5.37:g.157073693A>G	ENSP00000265007:p.Tyr447His	NA	O94995|Q8IYX6	37	CCDS4339.1	.	.	.	.	.	.	.	.	.	.	A	19.18	3.777591	0.70107	.	.	ENSG00000039600	ENST00000311371;ENST00000265007;ENST00000519442	D;D;D	0.98249	-4.82;-4.33;-4.61	5.24	5.24	0.73138	.	0.107024	0.42172	D	0.000754	D	0.97411	0.9153	N	0.24115	0.695	0.33154	D	0.546052	D;D;D	0.76494	0.999;0.998;0.996	D;P;P	0.63597	0.916;0.904;0.804	D	0.99901	1.1161	10	0.54805	T	0.06	.	14.0019	0.64437	1.0:0.0:0.0:0.0	.	142;447;447	B4DXW7;O94993-2;O94993	.;.;SOX30_HUMAN	H	447;447;142	ENSP00000309343:Y447H;ENSP00000265007:Y447H;ENSP00000427984:Y142H	ENSP00000265007:Y447H	Y	-	1	0	SOX30	157006271	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	5.993000	0.70616	2.111000	0.64477	0.528000	0.53228	TAC	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252571.2		-	ENST00000265007.6	Missense_Mutation	SNP	5 : 157073693 - 157073693 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	667	129
PTCD3	55037	broad.mit.edu	37	2	86354302	86354302	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86354302G>A	ENST00000254630.7	+	13	1036	c.970G>A	c.(970-972)Gtt>Att	p.V324I	PTCD3_ENST00000409277.3_3'UTR	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	324						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						AAGACACATGGTTGCACAGAA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	80	80			NA	NA	2		NA											NA				86354302		2203	4300	6503	SO:0001583	missense				CCDS33235.1	2p11.2	2014-02-12	2012-02-24		ENSG00000132300	ENSG00000132300	55037	55037			24717	protein-coding gene	gene with protein product		614918			NA	8889548	Standard	NM_017952	NM_017952	NA	Approved	FLJ20758, DKFZp666K071	uc002sqw.2	Q96EY7	OTTHUMG00000153168	ENST00000254630.7:c.970G>A	2.37:g.86354302G>A	ENSP00000254630:p.Val324Ile	NA	A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	37	CCDS33235.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503453	0.44558	.	.	ENSG00000132300	ENST00000254630	T	0.30714	1.52	6.17	3.38	0.38709	.	0.778290	0.13001	N	0.421650	T	0.21550	0.0519	L	0.35341	1.055	0.80722	D	1	B	0.16396	0.017	B	0.12837	0.008	T	0.03829	-1.1000	10	0.21014	T	0.42	-3.1906	8.4877	0.33082	0.1352:0.0:0.7394:0.1253	.	324	Q96EY7	PTCD3_HUMAN	I	324	ENSP00000254630:V324I	ENSP00000254630:V324I	V	+	1	0	PTCD3	86207813	0.996000	0.38824	0.978000	0.43139	0.963000	0.63663	2.311000	0.43717	0.922000	0.37019	0.655000	0.94253	GTT	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329854.1		+	ENST00000254630.7	Missense_Mutation	SNP	2 : 86354302 - 86354302 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	321	33
DOLK	22845	broad.mit.edu	37	9	131708326	131708326	+	Silent	SNP	G	G	T	rs138962748		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131708326G>T	ENST00000372586.3	-	1	1572	c.1257C>A	c.(1255-1257)atC>atA	p.I419I	RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	419					dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						GGATCAGCCAGATGGGAAGAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	91	90			NA	NA	9		NA											NA				131708326		2203	4300	6503	SO:0001819	synonymous_variant			AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283	22845	22845			23406	protein-coding gene	gene with protein product	dolichol kinase 1	610746	transmembrane protein 15	TMEM15	NA	12975309, 16923818	Standard	NM_014908	NM_014908	NA	Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.1257C>A	9.37:g.131708326G>T		NA	Q5SRE6	37	CCDS6915.1																																																																																			DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054515.1		-	ENST00000372586.3	Silent	SNP	9 : 131708326 - 131708326 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	384	14
RCE1	9986	broad.mit.edu	37	11	66611062	66611062	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66611062G>A	ENST00000309657.3	+	1	180	c.136G>A	c.(136-138)Gcc>Acc	p.A46T	RCE1_ENST00000524506.1_Missense_Mutation_p.A46T	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	46					proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CCTCAGCCTCGCCTGCTCCTA	0.746		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													5	6	6			NA	NA	11		NA											NA				66611062		1854	3734	5588	SO:0001583	missense			AF121951	CCDS8151.1	11q13	2013-10-18	2013-10-18	2001-06-29	ENSG00000173653	ENSG00000173653	9986	9986			13721	protein-coding gene	gene with protein product	farnesylated protein-converting enzyme 2, prenyl protein-specific endoprotease 2, RCE1 homolog, prenyl protein protease, CAAX prenyl protease 2	605385	RCE1 (S. Cerevisiae) homolog, prenyl protein protease, RCE1 homolog, prenyl protein peptidase (S. cerevisiae), RCE1 homolog, prenyl protein protease (S. cerevisiae)	RCE1A, RCE1B	NA	10085068, 10373325	Standard	NM_005133	NM_005133	NA	Approved	hRCE1, FACE-2, FACE2	uc001ojk.1	Q9Y256	OTTHUMG00000167098	ENST00000309657.3:c.136G>A	11.37:g.66611062G>A	ENSP00000309163:p.Ala46Thr	NA	Q52LZ9	37	CCDS8151.1	.	.	.	.	.	.	.	.	.	.	G	36	5.693088	0.96793	.	.	ENSG00000173653	ENST00000309657;ENST00000524506	.	.	.	4.51	4.51	0.55191	.	0.162448	0.38326	N	0.001732	T	0.66616	0.2807	L	0.35723	1.085	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.68051	-0.5511	9	0.49607	T	0.09	-10.3498	15.0864	0.72158	0.0:0.0:1.0:0.0	.	46	Q9Y256	FACE2_HUMAN	T	46	.	ENSP00000309163:A46T	A	+	1	0	RCE1	66367638	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.931000	0.87625	2.215000	0.71742	0.561000	0.74099	GCC	RCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393105.1		+	ENST00000309657.3	Missense_Mutation	SNP	11 : 66611062 - 66611062 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	81	14
ACACB	32	broad.mit.edu	37	12	109637233	109637233	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109637233C>T	ENST00000338432.7	+	18	2773	c.2654C>T	c.(2653-2655)aCg>aTg	p.T885M	ACACB_ENST00000377848.3_Missense_Mutation_p.T885M|ACACB_ENST00000377854.5_Missense_Mutation_p.T885M			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	885					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GGCAATAAGACGTGTGTGTTT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	130	136			NA	NA	12		NA											NA				109637233		2203	4300	6503	SO:0001583	missense			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	32	32	6.4.1.2		85	protein-coding gene	gene with protein product	acetyl-CoA carboxylase 2	601557	acetyl-Coenzyme A carboxylase beta		NA	8670171	Standard	NM_001093	NM_001093	NA	Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2654C>T	12.37:g.109637233C>T	ENSP00000341044:p.Thr885Met	NA	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311544	0.81358	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	D;D;D	0.96491	-4.03;-4.03;-3.97	5.42	4.53	0.55603	Single hybrid motif (1);	0.000000	0.85682	D	0.000000	D	0.98277	0.9429	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.68353	0.957	D	0.99198	1.0872	10	0.87932	D	0	.	14.2219	0.65833	0.0:0.9269:0.0:0.0731	.	885	O00763	ACACB_HUMAN	M	885;885;885;116	ENSP00000341044:T885M;ENSP00000367079:T885M;ENSP00000367085:T885M	ENSP00000341044:T885M	T	+	2	0	ACACB	108121616	1.000000	0.71417	0.888000	0.34837	0.877000	0.50540	5.958000	0.70330	1.418000	0.47098	0.585000	0.79938	ACG	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403077.1		+	ENST00000338432.7	Missense_Mutation	SNP	12 : 109637233 - 109637233 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	438	84
CASP8	841	broad.mit.edu	37	2	202150030	202150030	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202150030C>T	ENST00000358485.4	+	8	1667	c.1471C>T	c.(1471-1473)Cga>Tga	p.R491*	CASP8_ENST00000432109.2_Nonsense_Mutation_p.R432*|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000264275.5_Nonsense_Mutation_p.R449*|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000323492.7_Nonsense_Mutation_p.R417*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.R348*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	432					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.R449*(2)|p.R491*(2)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CCTGAGAGAGCGATGTCCTCG	0.507		NA								HNSCC(4;0.00038)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(82;831 1348 20716 36952 40159)							NA				4	Substitution - Nonsense(4)	large_intestine(4)											88	79	82			NA	NA	2		NA											NA				202150030		2203	4300	6503	SO:0001587	stop_gained			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012	841	841		Caspases	1509	protein-coding gene	gene with protein product		601763	caspase 8, apoptosis-related cysteine protease		NA	8681376, 8681377	Standard	NM_001228	NM_033355	NA	Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000358485.4:c.1471C>T	2.37:g.202150030C>T	ENSP00000351273:p.Arg491*	NA	O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	37	CCDS42798.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854011	0.91355	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	.	.	.	5.37	-0.0641	0.13774	.	0.491720	0.23362	N	0.049019	.	.	.	.	.	.	0.33432	D	0.581203	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.7959	0.08738	0.4714:0.3404:0.0731:0.1151	.	.	.	.	X	417;348;432;449;491;417;211	.	ENSP00000264274:R348X	R	+	1	2	CASP8	201858275	0.981000	0.34729	0.997000	0.53966	0.724000	0.41520	0.848000	0.27710	0.348000	0.23949	-0.314000	0.08810	CGA	CASP8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256278.3		+	ENST00000358485.4	Nonsense_Mutation	SNP	2 : 202150030 - 202150030 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	463	108
ZNF568	374900	broad.mit.edu	37	19	37416155	37416155	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37416155C>T	ENST00000333987.7	+	4	636	c.130C>T	c.(130-132)Cct>Tct	p.P44S	ZNF568_ENST00000427117.1_Missense_Mutation_p.P44S|ZNF568_ENST00000455427.2_5'UTR|ZNF568_ENST00000415168.1_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	44					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TACAACCAGGCCTCTTGTACG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	129	133			NA	NA	19		NA											NA				37416155		1880	4109	5989	SO:0001583	missense			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453	374900	374900		Zinc fingers, C2H2-type, -	25392	protein-coding gene	gene with protein product					NA		Standard	NM_198539	NM_198539	NA	Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.130C>T	19.37:g.37416155C>T	ENSP00000334685:p.Pro44Ser	NA	Q6N060|Q8NA64	37	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	C	0.116	-1.131312	0.01756	.	.	ENSG00000198453	ENST00000427117;ENST00000333987;ENST00000444991	T;T;T	0.00768	5.72;5.72;5.72	3.89	0.386	0.16254	Krueppel-associated box (1);	.	.	.	.	T	0.00468	0.0015	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.56086	-0.8037	9	0.17369	T	0.5	.	5.9284	0.19124	0.0:0.3722:0.0:0.6278	.	44;44	C9JZ58;Q3ZCX4	.;ZN568_HUMAN	S	44	ENSP00000407012:P44S;ENSP00000334685:P44S;ENSP00000389794:P44S	ENSP00000334685:P44S	P	+	1	0	ZNF568	42107995	0.704000	0.27836	0.699000	0.30290	0.796000	0.44982	0.298000	0.19120	0.022000	0.15160	-0.311000	0.09066	CCT	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109572.2		+	ENST00000333987.7	Missense_Mutation	SNP	19 : 37416155 - 37416155 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	217	40
ESCO1	114799	broad.mit.edu	37	18	19147945	19147945	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:19147945A>C	ENST00000269214.5	-	5	2578	c.1641T>G	c.(1639-1641)ttT>ttG	p.F547L		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	547					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TATTACCTGGAAATTTATTCT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	72	72			NA	NA	18		NA											NA				19147945		2202	4300	6502	SO:0001583	missense			AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446	114799	114799			24645	protein-coding gene	gene with protein product		609674	establishment of cohesion 1 homolog 1 (S. cerevisiae)		NA	11572484, 14576321, 15958495	Standard	NM_052911	NM_052911	NA	Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.1641T>G	18.37:g.19147945A>C	ENSP00000269214:p.Phe547Leu	NA	B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	37	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	A	12.83	2.055098	0.36277	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	T;T	0.57436	0.4;1.96	5.6	5.6	0.85130	.	0.289111	0.30695	N	0.009075	T	0.46580	0.1400	L	0.57536	1.79	0.31686	N	0.642527	B	0.06786	0.001	B	0.04013	0.001	T	0.50524	-0.8818	10	0.24483	T	0.36	-5.9452	10.3972	0.44207	0.8546:0.0:0.0:0.1454	.	547	Q5FWF5	ESCO1_HUMAN	L	547	ENSP00000269214:F547L;ENSP00000372763:F547L	ENSP00000269214:F547L	F	-	3	2	ESCO1	17401943	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.733000	0.47360	2.260000	0.74910	0.528000	0.53228	TTT	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443942.1		-	ENST00000269214.5	Missense_Mutation	SNP	18 : 19147945 - 19147945 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	414	90
FBXO7	25793	broad.mit.edu	37	22	32875113	32875113	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32875113T>C	ENST00000266087.7	+	2	595	c.268T>C	c.(268-270)Tcc>Ccc	p.S90P	FBXO7_ENST00000465418.1_3'UTR|FBXO7_ENST00000382058.3_Intron|FBXO7_ENST00000397426.1_5'UTR	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	90					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TATACCTTCATCCACAGATTC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													185	185	185			NA	NA	22		NA											NA				32875113		2203	4300	6503	SO:0001583	missense			AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225	25793	25793		F-boxes /  other, Parkinson disease	13586	protein-coding gene	gene with protein product		605648	F-box only protein 7		NA	10531035, 10531037, 19038853	Standard		NM_001257990	NA	Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.268T>C	22.37:g.32875113T>C	ENSP00000266087:p.Ser90Pro	NA	B4DNB3|Q5TGC4|Q96HM6|Q9UF21|Q9UKT2	37	CCDS13907.1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.291808	0.40594	.	.	ENSG00000100225	ENST00000266087	T	0.41065	1.01	5.45	4.41	0.53225	.	0.118284	0.64402	D	0.000011	T	0.29061	0.0722	L	0.42529	1.33	0.80722	D	1	B	0.20368	0.044	B	0.14023	0.01	T	0.13548	-1.0505	10	0.22109	T	0.4	-20.8168	4.9583	0.14054	0.0:0.2026:0.0:0.7974	.	90	Q9Y3I1	FBX7_HUMAN	P	90	ENSP00000266087:S90P	ENSP00000266087:S90P	S	+	1	0	FBXO7	31205113	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.616000	0.36933	2.065000	0.61736	0.454000	0.30748	TCC	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000129001.1		+	ENST00000266087.7	Missense_Mutation	SNP	22 : 32875113 - 32875113 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1021	191
RFTN1	23180	broad.mit.edu	37	3	16450991	16450991	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:16450991C>A	ENST00000334133.4	-	4	605		c.e4-1		RFTN1_ENST00000432519.1_Splice_Site	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	NA						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						TTTCTGAGATCTGAAGAGAAA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	95	97			NA	NA	3		NA											NA				16450991		2203	4300	6503	SO:0001630	splice_region_variant			D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378	23180	23180			30278	protein-coding gene	gene with protein product	raft-linking protein				NA	7788527, 12805216	Standard	NM_015150	NM_015150	NA	Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.333-1G>T	3.37:g.16450991C>A		NA	Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	37	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488476	0.44249	.	.	ENSG00000131378	ENST00000432519;ENST00000334133;ENST00000451036;ENST00000449415;ENST00000441460;ENST00000431547	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1773	0.72924	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RFTN1	16425995	1.000000	0.71417	0.997000	0.53966	0.490000	0.33462	4.084000	0.57650	2.656000	0.90262	0.655000	0.94253	.	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346908.1	Intron	-	ENST00000334133.4	Splice_Site	SNP	3 : 16450991 - 16450991 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	288	54
COL15A1	1306	broad.mit.edu	37	9	101747863	101747863	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101747863T>C	ENST00000375001.3	+	3	540	c.117T>C	c.(115-117)ggT>ggC	p.G39G		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	39					angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CTTCCCAGGGTCACCTGGACC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	57	59			NA	NA	9		NA											NA				101747863		2203	4300	6503	SO:0001819	synonymous_variant			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291	1306	1306		Proteoglycans / Extracellular Matrix : Collagen proteoglycans, Collagens	2192	protein-coding gene	gene with protein product	collagen type XV proteoglycan	120325			NA	1427836	Standard	NM_001855	NM_001855	NA	Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.117T>C	9.37:g.101747863T>C		NA	Q5T6J4|Q9UDC5|Q9Y4W4	37	CCDS35081.1																																																																																			COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053386.3		+	ENST00000375001.3	Silent	SNP	9 : 101747863 - 101747863 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	185	25
SECISBP2	79048	broad.mit.edu	37	9	91972418	91972418	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:91972418C>T	ENST00000375807.3	+	15	2277	c.2206C>T	c.(2206-2208)Cgc>Tgc	p.R736C	SECISBP2_ENST00000534113.2_Missense_Mutation_p.R668C|SECISBP2_ENST00000339901.4_Missense_Mutation_p.R663C	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	736					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AGCTCTGGGGCGCAGTTTGAA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													200	187	191			NA	NA	9		NA											NA				91972418		2203	4300	6503	SO:0001583	missense			AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742	79048	79048			30972	protein-coding gene	gene with protein product		607693			NA	11230166	Standard	NM_024077	XM_005252193	NA	Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.2206C>T	9.37:g.91972418C>T	ENSP00000364965:p.Arg736Cys	NA	Q5HYY1|Q8IYC0|Q9H0A1	37	CCDS6683.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991652	0.93106	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113	T;T;T	0.59906	0.23;0.23;0.23	4.68	4.68	0.58851	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.056493	0.64402	D	0.000001	T	0.77948	0.4207	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.996;0.999	T	0.81531	-0.0890	10	0.87932	D	0	-12.9178	18.1344	0.89614	0.0:1.0:0.0:0.0	.	743;663;736	Q59H19;Q96T21-2;Q96T21	.;.;SEBP2_HUMAN	C	736;742;663;668	ENSP00000364965:R736C;ENSP00000364959:R663C;ENSP00000436650:R668C	ENSP00000364959:R663C	R	+	1	0	SECISBP2	91162238	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.705000	0.61838	2.583000	0.87209	0.555000	0.69702	CGC	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052990.3		+	ENST00000375807.3	Missense_Mutation	SNP	9 : 91972418 - 91972418 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	792	192
ODAM	54959	broad.mit.edu	37	4	71066290	71066290	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71066290A>G	ENST00000396094.2	+	6	548	c.500A>G	c.(499-501)cAa>cGa	p.Q167R		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	167	Gln-rich.				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						TCACCTCAACAAACAAGACAG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	95	100			NA	NA	4		NA											NA				71066290		2203	4300	6503	SO:0001583	missense			AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205	54959	54959			26043	protein-coding gene	gene with protein product		614843			NA	14647039	Standard	NM_017855	NM_017855	NA	Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.500A>G	4.37:g.71066290A>G	ENSP00000379401:p.Gln167Arg	NA	Q8WWE5|Q9NWZ9	37	CCDS3536.2	.	.	.	.	.	.	.	.	.	.	A	13.68	2.308310	0.40895	.	.	ENSG00000109205	ENST00000396094;ENST00000510709;ENST00000514097	T;T	0.50277	0.75;0.75	5.22	1.05	0.20165	.	0.525126	0.16190	N	0.225453	T	0.33323	0.0859	L	0.50333	1.59	0.09310	N	1	B	0.25390	0.125	B	0.20955	0.032	T	0.19031	-1.0318	10	0.38643	T	0.18	0.1088	2.0449	0.03558	0.5865:0.1654:0.089:0.1591	.	167	A1E959	ODAM_HUMAN	R	167;153;120	ENSP00000379401:Q167R;ENSP00000426106:Q120R	ENSP00000379401:Q167R	Q	+	2	0	ODAM	71100879	0.545000	0.26449	0.034000	0.17996	0.002000	0.02628	1.020000	0.30027	0.406000	0.25560	-0.290000	0.09829	CAA	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251562.1		+	ENST00000396094.2	Missense_Mutation	SNP	4 : 71066290 - 71066290 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	169	34
RP1	6101	broad.mit.edu	37	8	55533931	55533931	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55533931G>A	ENST00000220676.1	+	2	553	c.405G>A	c.(403-405)gcG>gcA	p.A135A		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	135					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.A135A(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCATTAGCGCGCACTCACCGC	0.692		NA											G	2	9e-04	0.0041	NA	2184	NA	0.9996	,	,	NA	3e-04	NA	NA	NA	0.0011	0.8198	EXOME	NA	NA	4e-04	SNP	Colon(91;1014 1389 7634 14542 40420)							NA				1	Substitution - coding silent(1)	prostate(1)											27	32	30			NA	NA	8		NA											NA				55533931		2186	4292	6478	SO:0001819	synonymous_variant			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237	6101	6101			10263	protein-coding gene	gene with protein product		603937			NA	1783394	Standard	NM_006269	NM_006269	NA	Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.405G>A	8.37:g.55533931G>A		NA		37	CCDS6160.1																																																																																			RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378532.2		+	ENST00000220676.1	Silent	SNP	8 : 55533931 - 55533931 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	619	115
LAMA5	3911	broad.mit.edu	37	20	60927304	60927304	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60927304G>A	ENST00000252999.3	-	4	747	c.681C>T	c.(679-681)aaC>aaT	p.N227N	LAMA5_ENST00000370677.3_Silent_p.N227N|LAMA5_ENST00000370692.3_Silent_p.N227N	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	227	Laminin N-terminal.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ccacctctccGTTCTCCAGGG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	43	44			NA	NA	20		NA											NA				60927304		2202	4293	6495	SO:0001819	synonymous_variant			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702	3911	3911		Laminins	6485	protein-coding gene	gene with protein product		601033			NA	9271224	Standard	NM_005560	NM_005560	NA	Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.681C>T	20.37:g.60927304G>A		NA	Q8TDF8|Q8WZA7|Q9H1P1	37	CCDS33502.1																																																																																			LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080014.2		-	ENST00000252999.3	Silent	SNP	20 : 60927304 - 60927304 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	177	48
C12orf4	57102	broad.mit.edu	37	12	4634664	4634664	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4634664A>C	ENST00000261250.3	-	5	679	c.592T>G	c.(592-594)Ttt>Gtt	p.F198V	C12orf4_ENST00000545746.1_Missense_Mutation_p.F198V	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	198										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		TGGGATTCAAAATGCTGAGCA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	135	137			NA	NA	12		NA											NA				4634664		2203	4300	6503	SO:0001583	missense			AJ272205	CCDS8528.1	12p13.3	2012-08-10			ENSG00000047621	ENSG00000047621	57102	57102			1184	protein-coding gene	gene with protein product					NA		Standard	NM_020374	NM_020374	NA	Approved		uc001qms.3	Q9NQ89	OTTHUMG00000168258	ENST00000261250.3:c.592T>G	12.37:g.4634664A>C	ENSP00000261250:p.Phe198Val	NA	D3DUQ8|Q6MZH5	37	CCDS8528.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.614009	0.87359	.	.	ENSG00000047621	ENST00000261250;ENST00000545746;ENST00000541014	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.74176	0.3682	L	0.53729	1.69	0.80722	D	1	D	0.67145	0.996	D	0.65684	0.937	T	0.77167	-0.2687	9	0.87932	D	0	.	15.6397	0.76989	1.0:0.0:0.0:0.0	.	198	Q9NQ89	CL004_HUMAN	V	198;198;25	.	ENSP00000261250:F198V	F	-	1	0	C12orf4	4504925	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.645000	0.91049	2.150000	0.67090	0.455000	0.32223	TTT	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398992.1		-	ENST00000261250.3	Missense_Mutation	SNP	12 : 4634664 - 4634664 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	446	68
LPAR5	57121	broad.mit.edu	37	12	6729583	6729583	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6729583C>T	ENST00000329858.4	-	2	1588	c.832G>A	c.(832-834)Gtg>Atg	p.V278M	LPAR5_ENST00000431922.1_Missense_Mutation_p.V278M	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	278						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						ACCATCAGCACCCCGCGCACG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(74;891 2312 37538)							NA				0													13	15	14			NA	NA	12		NA											NA				6729583		2195	4284	6479	SO:0001583	missense			AJ272207	CCDS8553.1	12p13.31	2012-08-08	2008-04-11	2008-04-11		ENSG00000184574	57121	57121		GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid	13307	protein-coding gene	gene with protein product		606926	G protein-coupled receptor 92	GPR93, GPR92	NA	11062477, 11574155, 16774927, 16651401	Standard	NM_020400	NM_020400	NA	Approved	KPG_010, LPA5	uc009zer.2	Q9H1C0		ENST00000329858.4:c.832G>A	12.37:g.6729583C>T	ENSP00000327875:p.Val278Met	NA		37	CCDS8553.1	.	.	.	.	.	.	.	.	.	.	C	8.864	0.947639	0.18356	.	.	ENSG00000184574	ENST00000329858;ENST00000431922;ENST00000435659	T;T	0.38560	1.13;1.13	4.89	3.98	0.46160	GPCR, rhodopsin-like superfamily (1);	0.251014	0.27831	N	0.017662	T	0.49949	0.1587	L	0.48260	1.515	0.23314	N	0.997925	D	0.76494	0.999	D	0.71184	0.972	T	0.34453	-0.9828	10	0.18710	T	0.47	.	8.7994	0.34898	0.0:0.7683:0.1522:0.0795	.	278	Q9H1C0	LPAR5_HUMAN	M	278	ENSP00000327875:V278M;ENSP00000393098:V278M	ENSP00000327875:V278M	V	-	1	0	LPAR5	6599844	0.049000	0.20398	0.787000	0.31911	0.365000	0.29674	3.192000	0.50989	1.232000	0.43678	0.491000	0.48974	GTG	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400699.1		-	ENST00000329858.4	Missense_Mutation	SNP	12 : 6729583 - 6729583 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	121	16
PRX	57716	broad.mit.edu	37	19	40903814	40903814	+	Missense_Mutation	SNP	C	C	T	rs142436391	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40903814C>T	ENST00000324001.7	-	7	715	c.445G>A	c.(445-447)Gct>Act	p.A149T	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	149	Arg/Lys-rich (basic).				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCAGGTCAGCGGGGACCCCC	0.637		NA											C	3	0.0014	0.01	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0014	1	EXOME	NA	NA	3e-04	SNP								NA				0								C	,THR/ALA	36,4368		0,36,2166	18	23	21		,445	1.4	1	19	dbSNP_134	21	0,8598		0,0,4299	yes	utr-3,missense	PRX	NM_020956.2,NM_181882.2	,58	0,36,6465	TT,TC,CC	NA	0.0,0.8174,0.2769	,probably-damaging	,149/1462	40903814	36,12966	2202	4299	6501	SO:0001583	missense			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227	57716	57716			13797	protein-coding gene	gene with protein product		605725			NA	10839370, 9143514	Standard	NM_020956	NM_181882	NA	Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.445G>A	19.37:g.40903814C>T	ENSP00000326018:p.Ala149Thr	NA	Q9BXL9|Q9HCF2	37	CCDS33028.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	16.55	3.155901	0.57259	0.008174	0.0	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01947	4.54	4.9	1.41	0.22369	.	0.606997	0.14706	N	0.303278	T	0.02047	0.0064	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.68353	0.957	T	0.64343	-0.6430	10	0.41790	T	0.15	-0.3875	5.7664	0.18229	0.1664:0.6481:0.0:0.1855	.	149	Q9BXM0	PRAX_HUMAN	T	149	ENSP00000326018:A149T	ENSP00000326018:A149T	A	-	1	0	PRX	45595654	0.755000	0.28372	0.998000	0.56505	0.987000	0.75469	0.316000	0.19469	0.660000	0.30964	0.591000	0.81541	GCT	PRX-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462582.1		-	ENST00000324001.7	Missense_Mutation	SNP	19 : 40903814 - 40903814 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	130	13
OBFC1	79991	broad.mit.edu	37	10	105670293	105670293	+	Missense_Mutation	SNP	C	C	A	rs147663272		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105670293C>A	ENST00000224950.3	-	3	388	c.221G>T	c.(220-222)aGt>aTt	p.S74I	OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Missense_Mutation_p.S74I	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	74					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		ACCTCCATAACTGTAGAAAGC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ILE/SER	0,4404		0,0,2202	129	114	119		221	2.4	1	10	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	no	missense	OBFC1	NM_024928.4	142	0,1,6501	AA,AC,CC	NA	0.0116,0.0,0.0077	possibly-damaging	74/369	105670293	1,13003	2202	4300	6502	SO:0001583	missense			BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960	79991	79991			26200	protein-coding gene	gene with protein product		613128			NA	12477932	Standard	NM_024928	NM_024928	NA	Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.221G>T	10.37:g.105670293C>A	ENSP00000224950:p.Ser74Ile	NA	D3DR99|Q5TCZ0	37	CCDS7552.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.022059	0.35701	0.0	1.16E-4	ENSG00000107960	ENST00000224950;ENST00000369764	T;T	0.22336	1.96;1.96	5.47	2.36	0.29203	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.159693	0.64402	N	0.000001	T	0.15955	0.0384	L	0.39245	1.2	0.41782	D	0.989827	B	0.18461	0.028	B	0.15052	0.012	T	0.06661	-1.0814	10	0.32370	T	0.25	-1.2429	9.8972	0.41327	0.4001:0.4793:0.1205:0.0	.	74	Q9H668	STN1_HUMAN	I	74	ENSP00000224950:S74I;ENSP00000358779:S74I	ENSP00000224950:S74I	S	-	2	0	OBFC1	105660283	0.976000	0.34144	0.998000	0.56505	0.779000	0.44077	0.099000	0.15210	0.750000	0.32877	0.557000	0.71058	AGT	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050174.1		-	ENST00000224950.3	Missense_Mutation	SNP	10 : 105670293 - 105670293 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	259	47
ATIC	471	broad.mit.edu	37	2	216211553	216211553	+	Nonsense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216211553T>G	ENST00000435675.1	+	13	1780	c.1389T>G	c.(1387-1389)taT>taG	p.Y463*	ATIC_ENST00000540518.1_Nonsense_Mutation_p.Y405*|ATIC_ENST00000236959.9_Nonsense_Mutation_p.Y464*			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	464					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	AGGCAAACTATTGGTGGCTTA	0.453		NA	T	ALK	ALCL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		2	2q35	471	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase		L	0													179	159	166			NA	NA	2		NA											NA				216211553		2203	4300	6503	SO:0001587	stop_gained				CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	471	471	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase	601731			NA	8567683, 9378707	Standard	NM_004044	NM_004044	NA	Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000435675.1:c.1389T>G	2.37:g.216211553T>G	ENSP00000415935:p.Tyr463*	NA	Q13856|Q53S28	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.53|16.53	3.149877|3.149877	0.57151|0.57151	.|.	.|.	ENSG00000138363|ENSG00000138363	ENST00000446622;ENST00000426233|ENST00000236959;ENST00000540518;ENST00000435675	.|.	.|.	.|.	5.8|5.8	-2.44|-2.44	0.06502|0.06502	.|.	.|0.889155	.|0.09970	.|N	.|0.732367	T|.	0.56949|.	0.2020|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.65713|.	-0.6101|.	3|.	.|0.46703	.|T	.|0.11	5.5651|5.5651	14.3989|14.3989	0.67029|0.67029	0.0:0.6062:0.0:0.3938|0.0:0.6062:0.0:0.3938	.|.	.|.	.|.	.|.	V|X	158;133|464;405;463	.|.	.|ENSP00000236959:Y464X	L|Y	+|+	1|3	2|2	ATIC|ATIC	215919798|215919798	0.001000|0.001000	0.12720|0.12720	0.010000|0.010000	0.14722|0.14722	0.864000|0.864000	0.49448|0.49448	-0.106000|-0.106000	0.10890|0.10890	-0.576000|-0.576000	0.05974|0.05974	-0.280000|-0.280000	0.10049|0.10049	TTG|TAT	ATIC-007	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000337254.2		+	ENST00000435675.1	Nonsense_Mutation	SNP	2 : 216211553 - 216211553 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	641	190
GPR62	118442	broad.mit.edu	37	3	51990245	51990245	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51990245G>A	ENST00000322241.4	+	1	916	c.577G>A	c.(577-579)Ggc>Agc	p.G193S		NM_080865.3	NP_543141.3	Q9BZJ7	GPR62_HUMAN	G protein-coupled receptor 62	193						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGGCGCCTACGGCGGCATCTT	0.746		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													5	6	6			NA	NA	3		NA											NA				51990245		1273	2760	4033	SO:0001583	missense			AF317653	CCDS2838.1	3p21.1	2012-08-21			ENSG00000180929	ENSG00000180929	118442	118442		GPCR / Class A : Orphans	13301	protein-coding gene	gene with protein product		606917			NA	11165367	Standard		NM_080865	NA	Approved		uc003dca.4	Q9BZJ7	OTTHUMG00000157367	ENST00000322241.4:c.577G>A	3.37:g.51990245G>A	ENSP00000319250:p.Gly193Ser	NA	Q5KU27	37	CCDS2838.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.272912	0.23221	.	.	ENSG00000180929	ENST00000322241	T	0.71817	-0.6	4.21	1.38	0.22167	GPCR, rhodopsin-like superfamily (1);	0.779683	0.10556	N	0.660823	T	0.50922	0.1644	N	0.17631	0.505	0.27682	N	0.946402	B	0.25206	0.12	B	0.21546	0.035	T	0.33727	-0.9857	10	0.20519	T	0.43	-14.668	7.3158	0.26499	0.2858:0.0:0.7142:0.0	.	193	Q9BZJ7	GPR62_HUMAN	S	193	ENSP00000319250:G193S	ENSP00000319250:G193S	G	+	1	0	GPR62	51965285	0.282000	0.24268	0.952000	0.39060	0.802000	0.45316	0.144000	0.16135	-0.033000	0.13736	0.305000	0.20034	GGC	GPR62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348611.1		+	ENST00000322241.4	Missense_Mutation	SNP	3 : 51990245 - 51990245 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	97	19
TRIM24	8805	broad.mit.edu	37	7	138239586	138239586	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138239586C>T	ENST00000343526.4	+	9	1620	c.1405C>T	c.(1405-1407)Cgg>Tgg	p.R469W	TRIM24_ENST00000497516.1_3'UTR|TRIM24_ENST00000415680.2_Missense_Mutation_p.R469W			O15164	TIF1A_HUMAN	tripartite motif containing 24	469					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						AGCTCAATTACGGCTCCAGCA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)							NA				0													113	113	113			NA	NA	7		NA											NA				138239586		2203	4300	6503	SO:0001583	missense			AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779	8805	8805		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers, Zinc fingers, PHD-type	11812	protein-coding gene	gene with protein product		603406	transcriptional intermediary factor 1, tripartite motif-containing 24	TIF1	NA	9115274, 9191165	Standard	NM_015905	NM_003852	NA	Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.1405C>T	7.37:g.138239586C>T	ENSP00000340507:p.Arg469Trp	NA	A4D1R7|A4D1R8|O95854	37	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544278	0.86022	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680;ENST00000378381	T;T	0.78481	-1.18;-1.17	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.87597	0.6217	M	0.68593	2.085	0.58432	D	0.999996	P;D	0.89917	0.938;1.0	B;D	0.91635	0.384;0.999	D	0.87165	0.2217	10	0.52906	T	0.07	-13.5221	19.328	0.94270	0.0:1.0:0.0:0.0	.	469;469	O15164;O15164-2	TIF1A_HUMAN;.	W	469;380;469;427	ENSP00000340507:R469W;ENSP00000390829:R469W	ENSP00000340507:R469W	R	+	1	2	TRIM24	137890126	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.311000	0.65786	2.661000	0.90470	0.557000	0.71058	CGG	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341814.1		+	ENST00000343526.4	Missense_Mutation	SNP	7 : 138239586 - 138239586 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	618	17
MYH1	4619	broad.mit.edu	37	17	10415238	10415238	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10415238C>T	ENST00000226207.5	-	14	1428	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	445	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.R445L(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTGGTTGATGCGGGTGACCAT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											246	225	232			NA	NA	17		NA											NA				10415238		2203	4300	6503	SO:0001583	missense				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061	4619	4619		Myosins / Myosin superfamily : Class II	7567	protein-coding gene	gene with protein product	myosin heavy chain IIx/d	160730	myosin, heavy polypeptide 1, skeletal muscle, adult		NA	6304733	Standard	NM_005963	NM_005963	NA	Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1334G>A	17.37:g.10415238C>T	ENSP00000226207:p.Arg445His	NA	Q14CA4|Q9Y622	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	33	5.270913	0.95429	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	D	0.88741	-2.42	5.73	5.73	0.89815	Myosin head, motor domain (2);	0.000000	0.44097	U	0.000487	D	0.95762	0.8621	M	0.90425	3.115	0.58432	D	0.999998	D	0.69078	0.997	D	0.72625	0.978	D	0.95814	0.8844	10	0.87932	D	0	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	445	P12882	MYH1_HUMAN	H	445	ENSP00000226207:R445H	ENSP00000226207:R445H	R	-	2	0	MYH1	10355963	0.992000	0.36948	1.000000	0.80357	0.996000	0.88848	7.691000	0.84191	2.861000	0.98227	0.655000	0.94253	CGC	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252725.1		-	ENST00000226207.5	Missense_Mutation	SNP	17 : 10415238 - 10415238 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1342	270
KDM4E	390245	broad.mit.edu	37	11	94759017	94759017	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94759017G>A	ENST00000450979.2	+	1	596	c.296G>A	c.(295-297)cGc>cAc	p.R99H		NM_001161630.1	NP_001155102.1	B2RXH2	KD4DL_HUMAN	lysine (K)-specific demethylase 4E	99					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						GGGCAGTATCGCCGCTTGGCA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	18	18			NA	NA	11		NA											NA				94759017		692	1591	2283	SO:0001583	missense			BC157851	CCDS44713.1	11q21	2012-03-30	2012-03-28	2012-03-28		ENSG00000235268	390245	390245		Chromatin-modifying enzymes / K-demethylases	37098	protein-coding gene	gene with protein product			lysine (K)-specific demethylase 4D-like	KDM4DL	NA	21076780	Standard	NM_001161630	NM_001161630	NA	Approved	JMJD2E	uc010ruf.1	B2RXH2		ENST00000450979.2:c.296G>A	11.37:g.94759017G>A	ENSP00000397239:p.Arg99His	NA		37	CCDS44713.1	.	.	.	.	.	.	.	.	.	.	g	4.232	0.041936	0.08196	.	.	ENSG00000235268	ENST00000450979	T	0.50001	0.76	2.18	0.246	0.15516	.	.	.	.	.	T	0.39279	0.1072	M	0.68593	2.085	0.28819	N	0.897821	B	0.29886	0.26	B	0.13407	0.009	T	0.31971	-0.9924	9	0.52906	T	0.07	-1.5164	6.3681	0.21465	0.2819:0.0:0.7181:0.0	.	99	B2RXH2	KD4DL_HUMAN	H	99	ENSP00000397239:R99H	ENSP00000397239:R99H	R	+	2	0	KDM4DL	94398665	0.594000	0.26849	0.022000	0.16811	0.008000	0.06430	3.686000	0.54685	0.070000	0.16634	-0.380000	0.06706	CGC	KDM4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396649.1		+	ENST00000450979.2	Missense_Mutation	SNP	11 : 94759017 - 94759017 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	122	37
NUDT19	390916	broad.mit.edu	37	19	33200284	33200284	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33200284T>C	ENST00000397061.3	+	2	908	c.908T>C	c.(907-909)gTc>gCc	p.V303A		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	303						mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					GATGGGATGGTCCATCTTTTA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	122	126			NA	NA	19		NA											NA				33200284		1967	4149	6116	SO:0001583	missense				CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965	390916	390916		Nudix motif containing	32036	protein-coding gene	gene with protein product					NA		Standard	XM_372723	NM_001105570	NA	Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.908T>C	19.37:g.33200284T>C	ENSP00000380251:p.Val303Ala	NA		37	CCDS42543.1	.	.	.	.	.	.	.	.	.	.	T	14.46	2.543265	0.45280	.	.	ENSG00000213965	ENST00000397061	T	0.50548	0.74	4.77	4.77	0.60923	.	0.318283	0.26567	U	0.023647	T	0.40956	0.1138	L	0.49778	1.585	0.21290	N	0.999736	B	0.29716	0.255	B	0.27262	0.078	T	0.38308	-0.9667	10	0.46703	T	0.11	-16.3334	10.961	0.47385	0.0:0.0:0.0:1.0	.	303	A8MXV4	NUD19_HUMAN	A	303	ENSP00000380251:V303A	ENSP00000380251:V303A	V	+	2	0	NUDT19	37892124	0.088000	0.21588	0.036000	0.18154	0.087000	0.18053	4.148000	0.58085	1.891000	0.54761	0.482000	0.46254	GTC	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450338.3		+	ENST00000397061.3	Missense_Mutation	SNP	19 : 33200284 - 33200284 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	494	82
PLEKHS1	79949	broad.mit.edu	37	10	115527167	115527167	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115527167T>G	ENST00000369310.3	+	4	832	c.270T>G	c.(268-270)ttT>ttG	p.F90L	PLEKHS1_ENST00000369312.4_Missense_Mutation_p.F8L|PLEKHS1_ENST00000361048.1_Missense_Mutation_p.F96L	NM_182601.1	NP_872407.1			pleckstrin homology domain containing, family S member 1	NA											NA						AGAAGATGTTTAAATGCCACC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	94	95			NA	NA	10		NA											NA				115527167		2203	4300	6503	SO:0001583	missense			AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735	79949	79949		Pleckstrin homology (PH) domain containing	26285	protein-coding gene	gene with protein product			chromosome 10 open reading frame 81	C10orf81	NA	12477932	Standard	NM_024889	NM_024889	NA	Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000369310.3:c.270T>G	10.37:g.115527167T>G	ENSP00000358316:p.Phe90Leu	NA		37	CCDS53580.1	.	.	.	.	.	.	.	.	.	.	T	18.88	3.717869	0.68844	.	.	ENSG00000148735	ENST00000361048;ENST00000369312;ENST00000369310	T;T;T	0.30714	1.52;1.52;1.52	5.74	2.19	0.27852	.	0.121823	0.56097	D	0.000026	T	0.51329	0.1668	M	0.79926	2.475	0.29865	N	0.827301	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	T	0.49872	-0.8893	10	0.45353	T	0.12	-29.0525	7.7468	0.28873	0.0:0.241:0.0:0.759	.	90;90;96	Q5SXH7-5;Q5SXH7-2;Q5SXH7-4	.;.;.	L	96;8;90	ENSP00000354332:F96L;ENSP00000358318:F8L;ENSP00000358316:F90L	ENSP00000354332:F96L	F	+	3	2	C10orf81	115517157	0.983000	0.35010	0.995000	0.50966	0.907000	0.53573	-0.075000	0.11431	0.133000	0.18654	-0.290000	0.09829	TTT	PLEKHS1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050432.1		+	ENST00000369310.3	Missense_Mutation	SNP	10 : 115527167 - 115527167 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	145	29
FAM208B	54906	broad.mit.edu	37	10	5788692	5788692	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5788692G>A	ENST00000328090.5	+	15	3933	c.3308G>A	c.(3307-3309)cGa>cAa	p.R1103Q		NM_017782.4	NP_060252	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1103											NA						GAAAATGCACGAACACAAGGC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	123	125			NA	NA	10		NA											NA				5788692		2008	4181	6189	SO:0001583	missense			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021	54906	54906			23484	protein-coding gene	gene with protein product			chromosome 10 open reading frame 18	C10orf18	NA	12477932	Standard	NM_017782	NM_017782	NA	Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.3308G>A	10.37:g.5788692G>A	ENSP00000328426:p.Arg1103Gln	NA	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	37	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.972136	0.00457	.	.	ENSG00000108021	ENST00000328090	T	0.15372	2.43	5.46	4.31	0.51392	.	0.000000	0.50627	N	0.000113	T	0.03095	0.0091	N	0.00321	-1.65	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42699	-0.9436	10	0.02654	T	1	.	5.7819	0.18312	0.7446:0.1686:0.0868:0.0	.	1103	Q5VWN6	F208B_HUMAN	Q	1103	ENSP00000328426:R1103Q	ENSP00000328426:R1103Q	R	+	2	0	C10orf18	5828698	0.127000	0.22367	0.001000	0.08648	0.000000	0.00434	2.604000	0.46274	0.357000	0.24183	-1.460000	0.01027	CGA	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046571.2		+	ENST00000328090.5	Missense_Mutation	SNP	10 : 5788692 - 5788692 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	520	21
NEK7	140609	broad.mit.edu	37	1	198201767	198201767	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:198201767G>T	ENST00000367383.1	+	2	241	c.57G>T	c.(55-57)caG>caT	p.Q19H	NEK7_ENST00000367385.4_Splice_Site_p.Q19H|NEK7_ENST00000417895.1_3'UTR|NEK7_ENST00000538004.1_Splice_Site_p.Q19H			Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	19						cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						TCCAACCACAGGTAATTTATC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	85	86			NA	NA	1		NA											NA				198201767		2203	4300	6503	SO:0001630	splice_region_variant			AB062450	CCDS1394.1	1q31.3	2012-11-15	2012-11-15		ENSG00000151414	ENSG00000151414	140609	140609			13386	protein-coding gene	gene with protein product		606848	NIMA (never in mitosis gene a)-related kinase 7		NA	11701951	Standard	NM_133494	NM_133494	NA	Approved		uc001gun.4	Q8TDX7	OTTHUMG00000035658	ENST00000367383.1:c.57+1G>T	1.37:g.198201767G>T		NA	A6NGT8	37		.	.	.	.	.	.	.	.	.	.	G	19.09	3.760669	0.69763	.	.	ENSG00000151414	ENST00000367385;ENST00000442588;ENST00000538004;ENST00000367383;ENST00000544035;ENST00000391974	T;T;T;T;T	0.54866	1.08;1.08;0.7;0.55;3.15	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.51227	0.1662	N	0.19112	0.55	0.80722	D	1	D	0.57571	0.98	P	0.53593	0.73	T	0.52830	-0.8523	10	0.52906	T	0.07	.	15.5342	0.75990	0.0:0.0:1.0:0.0	.	19	Q8TDX7	NEK7_HUMAN	H	19	ENSP00000356355:Q19H;ENSP00000444621:Q19H;ENSP00000356353:Q19H;ENSP00000439095:Q19H;ENSP00000375835:Q19H	ENSP00000356353:Q19H	Q	+	3	2	NEK7	196468390	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	5.677000	0.68142	2.753000	0.94483	0.555000	0.69702	CAG	NEK7-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000086552.1	Missense_Mutation	+	ENST00000367383.1	Splice_Site	SNP	1 : 198201767 - 198201767 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	287	82
RAB7L1	0	broad.mit.edu	37	1	205739556	205739556	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205739556T>G	ENST00000367139.3	-	6	829	c.526A>C	c.(526-528)Aat>Cat	p.N176H	RAB7L1_ENST00000235932.4_Missense_Mutation_p.N176H|RAB7L1_ENST00000468887.1_5'UTR|RAB7L1_ENST00000437324.2_Missense_Mutation_p.N104H|RAB7L1_ENST00000446390.2_Missense_Mutation_p.N152H|RAB7L1_ENST00000414729.1_Missense_Mutation_p.N176H	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN		176					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TCTGTGGAATTTCTCATCATC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(25;658 872 27763 34889 38531)							NA				0													101	96	98			NA	NA	1		NA											NA				205739556		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000367139.3:c.526A>C	1.37:g.205739556T>G	ENSP00000356107:p.Asn176His	NA		37	CCDS1459.1	.	.	.	.	.	.	.	.	.	.	T	13.58	2.280869	0.40394	.	.	ENSG00000117280	ENST00000367139;ENST00000235932;ENST00000437324;ENST00000446390;ENST00000414729	T;T;T;T;T	0.80123	-1.34;-1.34;-0.66;-1.34;-1.34	5.39	4.23	0.50019	.	0.310723	0.34959	N	0.003548	T	0.67961	0.2949	L	0.49256	1.55	0.30130	N	0.804901	P;B	0.46277	0.875;0.008	B;B	0.31751	0.135;0.01	T	0.68800	-0.5313	10	0.48119	T	0.1	-10.795	7.2088	0.25921	0.1446:0.0:0.1509:0.7045	.	152;176	B4E1K3;O14966	.;RAB7L_HUMAN	H	176;176;104;152;176	ENSP00000356107:N176H;ENSP00000235932:N176H;ENSP00000416613:N104H;ENSP00000389899:N152H;ENSP00000402910:N176H	ENSP00000235932:N176H	N	-	1	0	RAB7L1	204006179	0.999000	0.42202	0.992000	0.48379	0.985000	0.73830	2.339000	0.43965	0.931000	0.37242	0.533000	0.62120	AAT	RAB7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087732.1		-	ENST00000367139.3	Missense_Mutation	SNP	1 : 205739556 - 205739556 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	322	37
F10	2159	broad.mit.edu	37	13	113803401	113803401	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113803401G>A	ENST00000375551.3	+	0	1069				F10_ENST00000409306.1_3'UTR|F10_ENST00000375559.3_Missense_Mutation_p.R346H			P00742	FA10_HUMAN	coagulation factor X	NA					blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCCCCGAGCGTGACTGGGCC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	71	76			NA	NA	13		NA											NA				113803401		2203	4300	6503	SO:0001624	3_prime_UTR_variant				CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	2159	2159	3.4.21.6		3528	protein-coding gene	gene with protein product		613872			NA		Standard		XM_005268298	NA	Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375551.3:c.*28G>A	13.37:g.113803401G>A		NA	Q14340	37		.	.	.	.	.	.	.	.	.	.	G	8.920	0.960766	0.18583	.	.	ENSG00000126218	ENST00000375559	D	0.93076	-3.16	5.11	3.95	0.45737	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.422310	0.24145	N	0.041130	D	0.89904	0.6850	L	0.55103	1.725	0.09310	N	1	P	0.48764	0.915	B	0.41894	0.369	T	0.83310	-0.0023	10	0.56958	D	0.05	.	7.3273	0.26563	0.6148:0.3028:0.0825:0.0	.	346	P00742	FA10_HUMAN	H	346	ENSP00000364709:R346H	ENSP00000364709:R346H	R	+	2	0	F10	112851402	0.000000	0.05858	0.895000	0.35142	0.002000	0.02628	-0.021000	0.12504	0.804000	0.34136	-0.379000	0.06801	CGT	F10-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000045842.1		+	ENST00000375551.3	3'UTR	SNP	13 : 113803401 - 113803401 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	416	117
ZBTB1	22890	broad.mit.edu	37	14	64988779	64988779	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64988779C>T	ENST00000358738.3	+	2	948	c.557C>T	c.(556-558)cCt>cTt	p.P186L	RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000554015.1_Missense_Mutation_p.P186L|ZBTB1_ENST00000394712.2_Missense_Mutation_p.P186L	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		GGTAATTTTCCTGAGCCACTA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	73	71			NA	NA	14		NA											NA				64988779		2203	4300	6503	SO:0001583	missense			AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804	22890	22890		-, BTB/POZ domain containing, Zinc fingers, C2H2-type	20259	protein-coding gene	gene with protein product					NA	10231032	Standard		NM_014950	NA	Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000358738.3:c.557C>T	14.37:g.64988779C>T	ENSP00000351587:p.Pro186Leu	NA	A8K6S8|Q86SW8	37	CCDS32097.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751458	0.31046	.	.	ENSG00000126804	ENST00000554015;ENST00000358738;ENST00000394712	T;T;T	0.10099	2.91;3.47;2.91	6.17	6.17	0.99709	.	0.269330	0.32819	N	0.005619	T	0.10723	0.0262	N	0.24115	0.695	0.51767	D	0.999933	B;B	0.24426	0.103;0.063	B;B	0.28011	0.085;0.016	T	0.09796	-1.0658	10	0.66056	D	0.02	-15.2061	16.2608	0.82541	0.0:0.8683:0.1316:0.0	.	186;186	Q9Y2K1-2;Q9Y2K1	.;ZBTB1_HUMAN	L	186	ENSP00000451000:P186L;ENSP00000351587:P186L;ENSP00000378201:P186L	ENSP00000351587:P186L	P	+	2	0	ZBTB1	64058532	0.771000	0.28555	0.986000	0.45419	0.995000	0.86356	1.362000	0.34148	2.941000	0.99782	0.655000	0.94253	CCT	ZBTB1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411913.1		+	ENST00000358738.3	Missense_Mutation	SNP	14 : 64988779 - 64988779 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	96
DDB1	1642	broad.mit.edu	37	11	61068395	61068395	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61068395G>T	ENST00000301764.7	-	26	3622	c.3225C>A	c.(3223-3225)tcC>tcA	p.S1075S	DDB1_ENST00000538470.1_Silent_p.S122S|DDB1_ENST00000451943.2_Silent_p.S62S|DDB1_ENST00000450997.2_Silent_p.S386S	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1075	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CGGTGTGAAAGGATCTCCAGG	0.502		NA						Nucleotide excision repair (NER)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	139	146			NA	NA	11		NA											NA				61068395		2203	4299	6502	SO:0001819	synonymous_variant			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986	1642	1642			2717	protein-coding gene	gene with protein product		600045	damage-specific DNA binding protein 1 (127kD)		NA	8530102, 10574459	Standard	NM_001923	NM_001923	NA	Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.3225C>A	11.37:g.61068395G>T		NA	A6NG77|B2R648|O15176|Q13289|Q58F96	37	CCDS31576.1																																																																																			DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398816.1		-	ENST00000301764.7	Silent	SNP	11 : 61068395 - 61068395 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	10
AHRR	57491	broad.mit.edu	37	5	434085	434085	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:434085T>C	ENST00000316418.5	+	12	1340	c.1296T>C	c.(1294-1296)gaT>gaC	p.D432D	AHRR_ENST00000506456.1_Silent_p.D270D|AHRR_ENST00000505113.1_Silent_p.D414D|AHRR_ENST00000512529.1_Silent_p.D260D	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			ACAGTGAGGATGGTGCCAGGC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	48	44			NA	NA	5		NA											NA				434085		2165	4239	6404	SO:0001819	synonymous_variant			AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438	57491	57491		Basic helix-loop-helix proteins	346	protein-coding gene	gene with protein product		606517	aryl hydrocarbon receptor regulator	AHH, AHHR	NA	1070014, 11423533	Standard	NM_020731	NM_020731	NA	Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000316418.5:c.1296T>C	5.37:g.434085T>C		NA	A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	37	CCDS43297.1																																																																																			AHRR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367719.2		+	ENST00000316418.5	Silent	SNP	5 : 434085 - 434085 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	240	47
ABCD2	225	broad.mit.edu	37	12	40012798	40012798	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40012798T>C	ENST00000308666.3	-	1	755	c.620A>G	c.(619-621)gAc>gGc	p.D207G		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	207	ABC transmembrane type-1.|Interaction with PEX19.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						AAGAGATTGGTCAGGGTTTGC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	110	112			NA	NA	12		NA											NA				40012798		2203	4300	6503	SO:0001583	missense			U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208	225	225		ATP binding cassette transporters / subfamily D	66	protein-coding gene	gene with protein product		601081		ALDL1	NA	8577752	Standard	NM_005164	NM_005164	NA	Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.620A>G	12.37:g.40012798T>C	ENSP00000310688:p.Asp207Gly	NA	B2RAM3|Q13210|Q2M3H9	37	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	T	18.94	3.729406	0.69074	.	.	ENSG00000173208	ENST00000308666	D	0.99874	-7.39	4.96	4.96	0.65561	ABC transporter, N-terminal (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99900	0.9952	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.96107	0.9074	9	.	.	.	-9.2221	14.6449	0.68754	0.0:0.0:0.0:1.0	.	207	Q9UBJ2	ABCD2_HUMAN	G	207	ENSP00000310688:D207G	.	D	-	2	0	ABCD2	38299065	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.517000	0.81783	1.849000	0.53698	0.455000	0.32223	GAC	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403591.1		-	ENST00000308666.3	Missense_Mutation	SNP	12 : 40012798 - 40012798 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	680	140
SLC9A1	6548	broad.mit.edu	37	1	27427125	27427125	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27427125G>T	ENST00000263980.3	-	12	2696	c.2121C>A	c.(2119-2121)gcC>gcA	p.A707A	SLC9A1_ENST00000545949.1_Silent_p.A368A	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	707					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	TCGGCTCATAGGCCAGTGGGT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	110	110			NA	NA	1		NA											NA				27427125		2203	4300	6503	SO:0001819	synonymous_variant			M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020	6548	6548		Solute carriers	11071	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 143	107310	solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive), solute carrier family 9 (sodium/hydrogen exchanger), member 1	APNH, NHE1	NA	8283968	Standard	NM_003047	NM_003047	NA	Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.2121C>A	1.37:g.27427125G>T		NA	B1ALD6|D3DPL4|Q96EM2	37	CCDS295.1																																																																																			SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000012336.2		-	ENST00000263980.3	Silent	SNP	1 : 27427125 - 27427125 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1005	112
TRIM36	55521	broad.mit.edu	37	5	114462446	114462446	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114462446C>A	ENST00000513154.1	-	10	2231	c.1905G>T	c.(1903-1905)aaG>aaT	p.K635N	TRIM36_ENST00000282369.3_Missense_Mutation_p.K647N|TRIM36_ENST00000514154.1_Missense_Mutation_p.K492N			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	647	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		AAGTAGGTGACTTGGGTATAA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	99	99			NA	NA	5		NA											NA				114462446		2202	4300	6502	SO:0001583	missense			AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503	55521	55521		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers, Fibronectin type III domain containing	16280	protein-coding gene	gene with protein product	zinc-binding protein Rbcc728, tripartite motif protein 36, RING finger protein 98	609317	tripartite motif-containing 36		NA	11331580	Standard	NM_018700	XM_005272031	NA	Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000513154.1:c.1905G>T	5.37:g.114462446C>A	ENSP00000423934:p.Lys635Asn	NA	A1L3Z1	37		.	.	.	.	.	.	.	.	.	.	C	12.18	1.860214	0.32884	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000514154	T;T;T	0.69175	-0.38;-0.38;-0.38	5.73	3.92	0.45320	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.200438	0.51477	D	0.000087	T	0.71846	0.3388	L	0.59436	1.845	0.80722	D	1	D;P	0.58970	0.984;0.91	P;P	0.57679	0.825;0.676	T	0.67921	-0.5545	10	0.26408	T	0.33	.	11.5858	0.50918	0.0:0.8068:0.1251:0.0681	.	635;647	E9PFI8;Q9NQ86	.;TRI36_HUMAN	N	647;635;492	ENSP00000282369:K647N;ENSP00000423934:K635N;ENSP00000424259:K492N	ENSP00000282369:K647N	K	-	3	2	TRIM36	114490345	0.998000	0.40836	0.992000	0.48379	0.109000	0.19521	0.968000	0.29357	0.850000	0.35239	-0.150000	0.13652	AAG	TRIM36-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000371017.1		-	ENST00000513154.1	Missense_Mutation	SNP	5 : 114462446 - 114462446 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	335	62
AHNAK	79026	broad.mit.edu	37	11	62301544	62301544	+	Silent	SNP	G	G	A	rs117532364	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62301544G>A	ENST00000378024.4	-	5	619	c.345C>T	c.(343-345)agC>agT	p.S115S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	115					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CATCATCCCCGCTCTGCAGAA	0.602		NA											G	0	0	NA	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0	0	EXOME	NA	NA	0.002	SNP								NA				0								G	,	0,4404		0,0,2202	42	37	38		345,	4	1	11	dbSNP_132	38	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,intron	AHNAK	NM_001620.1,NM_024060.2	,	0,1,6500	AA,AG,GG	NA	0.0116,0.0,0.0077	,	115/5891,	62301544	1,13001	2202	4299	6501	SO:0001819	synonymous_variant			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942	79026	79026			347	protein-coding gene	gene with protein product	desmoyokin	103390	AHNAK nucleoprotein (desmoyokin)		NA	7987395, 12153988	Standard	NM_024060	NM_024060	NA	Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.345C>T	11.37:g.62301544G>A		NA		37	CCDS31584.1																																																																																			AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395572.1		-	ENST00000378024.4	Silent	SNP	11 : 62301544 - 62301544 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	217	35
ZNF365	22891	broad.mit.edu	37	10	64382994	64382994	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64382994T>G	ENST00000410046.3	+	5	1393	c.1113T>G	c.(1111-1113)tcT>tcG	p.S371S	ZNF365_ENST00000395251.1_Intron	NM_199451.2	NP_955523.1	Q70YC4	TALAN_HUMAN	zinc finger protein 365	125										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					CCTGGACGTCTTCCACGGCTA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	139	141			NA	NA	10		NA											NA				64382994		2203	4300	6503	SO:0001819	synonymous_variant			AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311	22891	22891		Zinc fingers, C2H2-type	18194	protein-coding gene	gene with protein product	Talanin	607818			NA	10048485, 12740763	Standard	NM_014951	NM_199450	NA	Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000410046.3:c.1113T>G	10.37:g.64382994T>G		NA		37	CCDS7264.1																																																																																			ZNF365-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277038.1		+	ENST00000410046.3	Silent	SNP	10 : 64382994 - 64382994 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	750	139
TMEM168	64418	broad.mit.edu	37	7	112424589	112424589	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:112424589A>G	ENST00000312814.6	-	2	852	c.292T>C	c.(292-294)Tgg>Cgg	p.W98R	TMEM168_ENST00000454074.1_Missense_Mutation_p.W98R	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	NA						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						AATCCAAACCAAAGATTGGAG	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	77	76			NA	NA	7		NA											NA				112424589		2203	4299	6502	SO:0001583	missense				CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802	64418	64418			25826	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_022484	XM_005250527	NA	Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.292T>C	7.37:g.112424589A>G	ENSP00000323068:p.Trp98Arg	NA	A4D0T9|Q8NEK4|Q9H8J2	37	CCDS5757.1	.	.	.	.	.	.	.	.	.	.	A	16.36	3.101989	0.56183	.	.	ENSG00000146802	ENST00000312814;ENST00000454074	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.68622	0.3021	L	0.58101	1.795	0.80722	D	1	D	0.58268	0.982	P	0.55545	0.778	T	0.71397	-0.4605	9	0.72032	D	0.01	-11.3609	16.6245	0.84952	1.0:0.0:0.0:0.0	.	98	Q9H0V1	TM168_HUMAN	R	98	.	ENSP00000323068:W98R	W	-	1	0	TMEM168	112211825	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.517000	0.81783	2.323000	0.78572	0.528000	0.53228	TGG	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000338696.4		-	ENST00000312814.6	Missense_Mutation	SNP	7 : 112424589 - 112424589 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	259	40
ULK1	8408	broad.mit.edu	37	12	132393284	132393284	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132393284G>A	ENST00000321867.4	+	6	763	c.412G>A	c.(412-414)Gac>Aac	p.D138N		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	138	Protein kinase.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CATCCACCGCGACCTGAAACC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	26	26			NA	NA	12		NA											NA				132393284		2197	4298	6495	SO:0001583	missense			AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169	8408	8408			12558	protein-coding gene	gene with protein product	ATG1 autophagy related 1 homolog (S. cerevisiae)	603168	unc-51 (C. elegans)-like kinase 1, unc-51-like kinase 1 (C. elegans)		NA	9693035	Standard		NM_003565	NA	Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.412G>A	12.37:g.132393284G>A	ENSP00000324560:p.Asp138Asn	NA	Q9UQ28	37	CCDS9274.1	.	.	.	.	.	.	.	.	.	.	G	37	6.097301	0.97281	.	.	ENSG00000177169	ENST00000321867;ENST00000537421;ENST00000542313	D;D;D	0.92965	-3.14;-3.14;-3.14	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97508	0.9184	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98391	1.0563	10	0.87932	D	0	-51.9126	19.4219	0.94725	0.0:0.0:1.0:0.0	.	138	O75385	ULK1_HUMAN	N	138;55;32	ENSP00000324560:D138N;ENSP00000438953:D55N;ENSP00000444983:D32N	ENSP00000324560:D138N	D	+	1	0	ULK1	130959237	1.000000	0.71417	0.948000	0.38648	0.992000	0.81027	9.832000	0.99423	2.593000	0.87608	0.455000	0.32223	GAC	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397769.3		+	ENST00000321867.4	Missense_Mutation	SNP	12 : 132393284 - 132393284 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	56
KCNH4	23415	broad.mit.edu	37	17	40318495	40318495	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40318495G>T	ENST00000264661.3	-	10	1992	c.1660C>A	c.(1660-1662)Ctg>Atg	p.L554M	KCNH4_ENST00000607371.1_Missense_Mutation_p.L554M	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	554					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AACAACGGCAGCTGCAGGATC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(117;707 1703 2300 21308 31858)							NA				0													46	38	41			NA	NA	17		NA											NA				40318495		2203	4300	6503	SO:0001583	missense			AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558	23415	23415		Potassium channels, Voltage-gated ion channels / Potassium channels	6253	protein-coding gene	gene with protein product		604528			NA	10455180, 16382104	Standard	NM_012285	NM_012285	NA	Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1660C>A	17.37:g.40318495G>T	ENSP00000264661:p.Leu554Met	NA		37	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120584	0.77323	.	.	ENSG00000089558	ENST00000264661	D	0.96940	-4.18	4.2	3.19	0.36642	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.31461	N	0.007619	D	0.97445	0.9164	M	0.74881	2.28	0.50632	D	0.999889	D	0.89917	1.0	D	0.91635	0.999	D	0.96949	0.9693	10	0.52906	T	0.07	.	12.2967	0.54852	0.0851:0.0:0.9149:0.0	.	554	Q9UQ05	KCNH4_HUMAN	M	554	ENSP00000264661:L554M	ENSP00000264661:L554M	L	-	1	2	KCNH4	37572021	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.745000	0.62125	2.182000	0.69389	0.563000	0.77884	CTG	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449791.2		-	ENST00000264661.3	Missense_Mutation	SNP	17 : 40318495 - 40318495 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	11
USP36	57602	broad.mit.edu	37	17	76799818	76799818	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76799818G>A	ENST00000542802.3	-	16	2902	c.2459C>T	c.(2458-2460)cCg>cTg	p.P820L	USP36_ENST00000312010.6_Missense_Mutation_p.P820L|USP36_ENST00000449938.2_Intron			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	NA					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CAGCCTCTGCGGCTCTCCCAC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	29	28			NA	NA	17		NA											NA				76799818		2165	4269	6434	SO:0001583	missense			AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483	57602	57602		Ubiquitin-specific peptidases	20062	protein-coding gene	gene with protein product		612543	ubiquitin specific protease 36		NA	12838346	Standard	NM_025090	NM_025090	NA	Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.2459C>T	17.37:g.76799818G>A	ENSP00000441214:p.Pro820Leu	NA	Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	37	CCDS32755.1	.	.	.	.	.	.	.	.	.	.	A	7.663	0.685435	0.14973	.	.	ENSG00000055483	ENST00000312010;ENST00000542802	T;T	0.06608	3.28;3.28	5.19	-2.67	0.06059	.	2.273500	0.01508	N	0.017791	T	0.04998	0.0134	N	0.19112	0.55	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40739	-0.9547	10	0.27785	T	0.31	.	8.3188	0.32117	0.1328:0.0:0.6159:0.2513	.	820;820	Q9P275;Q9P275-2	UBP36_HUMAN;.	L	820	ENSP00000310590:P820L;ENSP00000441214:P820L	ENSP00000310590:P820L	P	-	2	0	USP36	74311413	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.705000	0.01896	-0.311000	0.08754	-0.254000	0.11334	CCG	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437472.3		-	ENST00000542802.3	Missense_Mutation	SNP	17 : 76799818 - 76799818 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	37
OR13G1	441933	broad.mit.edu	37	1	247835608	247835608	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247835608T>C	ENST00000359688.2	-	1	757	c.736A>G	c.(736-738)Acc>Gcc	p.T246A	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TAGTAAAGGGTCACCACTGTG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	138	146			NA	NA	1		NA											NA				247835608		2203	4300	6503	SO:0001583	missense			AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437	441933	441933		GPCR / Class A : Olfactory receptors	14999	protein-coding gene	gene with protein product		611677			NA		Standard	NM_001005487	NM_001005487	NA	Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.736A>G	1.37:g.247835608T>C	ENSP00000352717:p.Thr246Ala	NA	B2RN80|Q5T2T2|Q6IF86	37	CCDS31094.1	.	.	.	.	.	.	.	.	.	.	T	2.562	-0.301627	0.05495	.	.	ENSG00000197437	ENST00000359688	T	0.38560	1.13	4.2	-1.62	0.08372	GPCR, rhodopsin-like superfamily (1);	0.530450	0.15888	N	0.239683	T	0.25865	0.0630	L	0.38953	1.18	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.14924	-1.0455	10	0.27785	T	0.31	-38.9238	5.6071	0.17385	0.4267:0.143:0.0:0.4303	.	246	Q8NGZ3	O13G1_HUMAN	A	246	ENSP00000352717:T246A	ENSP00000352717:T246A	T	-	1	0	OR13G1	245902231	0.000000	0.05858	0.001000	0.08648	0.366000	0.29705	-0.086000	0.11233	-0.381000	0.07882	-0.445000	0.05633	ACC	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096869.1		-	ENST00000359688.2	Missense_Mutation	SNP	1 : 247835608 - 247835608 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	306	132
SYCP2	10388	broad.mit.edu	37	20	58441580	58441580	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58441580C>T	ENST00000357552.3	-	40	4415	c.4190G>A	c.(4189-4191)aGa>aAa	p.R1397K	SYCP2_ENST00000371001.2_Missense_Mutation_p.R1397K			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1397					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATTCATTGTTCTCAGATGTTG	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	90	89			NA	NA	20		NA											NA				58441580		2203	4298	6501	SO:0001583	missense			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074	10388	10388			11490	protein-coding gene	gene with protein product		604105			NA	10341103, 9592139	Standard	NM_014258	NM_014258	NA	Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.4190G>A	20.37:g.58441580C>T	ENSP00000350162:p.Arg1397Lys	NA	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	37	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	C	0.435	-0.901495	0.02453	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000412613	T;T	0.12255	2.7;2.7	5.3	-2.8	0.05823	.	1.000790	0.08062	N	0.998326	T	0.03434	0.0099	N	0.01705	-0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43327	-0.9398	10	0.05721	T	0.95	-0.5713	5.3347	0.15951	0.1098:0.0882:0.5781:0.2239	.	1397	Q9BX26	SYCP2_HUMAN	K	1397;1397;83	ENSP00000360040:R1397K;ENSP00000350162:R1397K	ENSP00000350162:R1397K	R	-	2	0	SYCP2	57874975	0.528000	0.26314	0.005000	0.12908	0.516000	0.34256	0.736000	0.26130	-0.201000	0.10284	-0.484000	0.04775	AGA	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079930.3		-	ENST00000357552.3	Missense_Mutation	SNP	20 : 58441580 - 58441580 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	312	45
CTTNBP2NL	55917	broad.mit.edu	37	1	112998846	112998846	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:112998846C>T	ENST00000271277.6	+	6	957	c.732C>T	c.(730-732)atC>atT	p.I244I		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	244						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGTTTGACATCGAAAGGGAAC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	104	100			NA	NA	1		NA											NA				112998846		2203	4300	6503	SO:0001819	synonymous_variant			AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079	55917	55917			25330	protein-coding gene	gene with protein product		615100			NA	10718198	Standard	NM_018704	NM_018704	NA	Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.732C>T	1.37:g.112998846C>T		NA	Q96B40	37	CCDS845.1																																																																																			CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000030686.1		+	ENST00000271277.6	Silent	SNP	1 : 112998846 - 112998846 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	382	15
GNB3	2784	broad.mit.edu	37	12	6952223	6952223	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6952223C>A	ENST00000229264.3	+	5	591	c.186C>A	c.(184-186)caC>caA	p.H62Q	GNB3_ENST00000435982.2_Missense_Mutation_p.H62Q	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	62					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						ACGCCATGCACTGGGCCACTG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	108	111			NA	NA	12		NA											NA				6952223		2203	4300	6503	SO:0001583	missense				CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664	2784	2784		WD repeat domain containing	4400	protein-coding gene	gene with protein product		139130			NA	11770079, 16600389	Standard	NM_002075	XM_005253680	NA	Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.186C>A	12.37:g.6952223C>A	ENSP00000229264:p.His62Gln	NA	Q9BQC0	37	CCDS8564.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.649411	0.67358	.	.	ENSG00000111664	ENST00000229264;ENST00000541257;ENST00000541978;ENST00000435982;ENST00000537035	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.26	2.4	0.29515	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);G-protein, beta subunit (1);	0.000000	0.85682	D	0.000000	T	0.42291	0.1196	N	0.12746	0.255	0.58432	D	0.999999	P;P	0.45078	0.85;0.542	P;B	0.46275	0.51;0.248	T	0.28964	-1.0027	10	0.40728	T	0.16	-13.0059	10.6396	0.45586	0.0:0.7865:0.0:0.2135	.	62;62	E9PCP0;P16520	.;GBB3_HUMAN	Q	62	ENSP00000229264:H62Q;ENSP00000442002:H62Q;ENSP00000414734:H62Q;ENSP00000445967:H62Q	ENSP00000229264:H62Q	H	+	3	2	GNB3	6822484	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.069000	0.41481	0.606000	0.29965	0.491000	0.48974	CAC	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400006.1		+	ENST00000229264.3	Missense_Mutation	SNP	12 : 6952223 - 6952223 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	344	55
THSD7A	221981	broad.mit.edu	37	7	11630195	11630195	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11630195C>T	ENST00000423059.4	-	4	1596	c.1345G>A	c.(1345-1347)Ggc>Agc	p.G449S		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	NA	TSP type-1 4.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GTCTGGTTGCCGCGCCTCTTG	0.557		NA								HNSCC(18;0.044)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	56	54			NA	NA	7		NA											NA				11630195		1994	4165	6159	SO:0001583	missense				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108	221981	221981			22207	protein-coding gene	gene with protein product		612249			NA		Standard	XM_928187.2	NM_015204	NA	Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1345G>A	7.37:g.11630195C>T	ENSP00000406482:p.Gly449Ser	NA		37	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	9.614	1.132081	0.21041	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.57107	0.42	5.8	4.91	0.64330	.	0.138816	0.64402	D	0.000003	T	0.26846	0.0657	N	0.04297	-0.235	0.47778	D	0.999515	B	0.06786	0.001	B	0.04013	0.001	T	0.16958	-1.0385	10	0.05525	T	0.97	.	14.2875	0.66256	0.0:0.9292:0.0:0.0708	.	449	Q9UPZ6	THS7A_HUMAN	S	449	ENSP00000406482:G449S	ENSP00000262042:G449S	G	-	1	0	THSD7A	11596720	0.771000	0.28555	0.457000	0.27056	0.876000	0.50452	2.212000	0.42835	2.748000	0.94277	0.655000	0.94253	GGC	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325944.4		-	ENST00000423059.4	Missense_Mutation	SNP	7 : 11630195 - 11630195 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	245	42
ZBTB38	253461	broad.mit.edu	37	3	141163405	141163405	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141163405G>A	ENST00000514251.1	+	4	2454	c.2175G>A	c.(2173-2175)tcG>tcA	p.S725S	ZBTB38_ENST00000321464.5_Silent_p.S726S|ZBTB38_ENST00000441582.2_Silent_p.S725S			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	725					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AGTTTTCATCGGTGATCATGC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	75	74			NA	NA	3		NA											NA				141163405		2063	4206	6269	SO:0001819	synonymous_variant			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311	253461	253461		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	26636	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 171	612218			NA	12477932	Standard		NM_001080412	NA	Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2175G>A	3.37:g.141163405G>A		NA	D3DNF6	37	CCDS43157.1																																																																																			ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359329.2		+	ENST00000514251.1	Silent	SNP	3 : 141163405 - 141163405 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	453	95
ZNF665	79788	broad.mit.edu	37	19	53669537	53669537	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53669537G>A	ENST00000600412.1	-	2	126	c.11C>T	c.(10-12)gCg>gTg	p.A4V	ZNF665_ENST00000396424.3_Missense_Mutation_p.A69V			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CGTGTAGAACGCTTCTCCCAT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													230	227	228			NA	NA	19		NA											NA				53669537		1944	4157	6101	SO:0001583	missense				CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497	79788	79788		Zinc fingers, C2H2-type, -	25885	protein-coding gene	gene with protein product					NA		Standard	NM_024733	NM_024733	NA	Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.11C>T	19.37:g.53669537G>A	ENSP00000469154:p.Ala4Val	NA	A8K5T8	37		.	.	.	.	.	.	.	.	.	.	G	0.415	-0.911452	0.02434	.	.	ENSG00000197497	ENST00000396424	T	0.05081	3.5	1.85	0.809	0.18725	.	.	.	.	.	T	0.01695	0.0054	N	0.00841	-1.15	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.48525	-0.9028	9	0.11794	T	0.64	.	5.9136	0.19041	0.8463:0.0:0.1537:0.0	.	69	Q9H7R5-2	.	V	69	ENSP00000379702:A69V	ENSP00000379702:A69V	A	-	2	0	ZNF665	58361349	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.590000	0.05760	0.189000	0.20188	-0.436000	0.05848	GCG	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000464179.1		-	ENST00000600412.1	Missense_Mutation	SNP	19 : 53669537 - 53669537 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1363	107
FAT2	2196	broad.mit.edu	37	5	150947892	150947892	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150947892C>T	ENST00000261800.5	-	1	613	c.601G>A	c.(601-603)Ggt>Agt	p.G201S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	201	Cadherin 2.		G -> A (in dbSNP:rs11739693).		epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGACCACACCGCTGGTGGGA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	81	84			NA	NA	5		NA											NA				150947892		2203	4300	6503	SO:0001583	missense			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570	2196	2196		Cadherins / Cadherin-related	3596	protein-coding gene	gene with protein product	cadherin-related family member 9	604269	FAT tumor suppressor (Drosophila) homolog 2, FAT tumor suppressor homolog 2 (Drosophila)		NA	9693030	Standard	NM_001447	NM_001447	NA	Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.601G>A	5.37:g.150947892C>T	ENSP00000261800:p.Gly201Ser	NA	O75091|Q9NSR7	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.847465	0.91277	.	.	ENSG00000086570	ENST00000261800	D	0.91407	-2.84	5.61	5.61	0.85477	Cadherin (5);Cadherin-like (1);	0.000000	0.64402	D	0.000005	D	0.97480	0.9175	H	0.98256	4.185	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98616	1.0665	10	0.87932	D	0	.	19.6236	0.95670	0.0:1.0:0.0:0.0	.	201	Q9NYQ8	FAT2_HUMAN	S	201	ENSP00000261800:G201S	ENSP00000261800:G201S	G	-	1	0	FAT2	150928085	1.000000	0.71417	0.186000	0.23195	0.863000	0.49368	7.755000	0.85180	2.643000	0.89663	0.555000	0.69702	GGT	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252434.1		-	ENST00000261800.5	Missense_Mutation	SNP	5 : 150947892 - 150947892 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	457	49
ZNF552	79818	broad.mit.edu	37	19	58320176	58320176	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58320176C>A	ENST00000391701.1	-	3	625	c.456G>T	c.(454-456)gaG>gaT	p.E152D	ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		ACAACGCCTCCTCAACACTCC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	134	135			NA	NA	19		NA											NA				58320176		2203	4300	6503	SO:0001583	missense			AK097041	CCDS12963.1	19q13.43	2013-09-20			ENSG00000178935	ENSG00000178935	79818	79818		Zinc fingers, C2H2-type, -	26135	protein-coding gene	gene with protein product					NA		Standard	NM_024762	XM_005259267	NA	Approved	FLJ21603	uc002qqg.3	Q9H707	OTTHUMG00000183478	ENST00000391701.1:c.456G>T	19.37:g.58320176C>A	ENSP00000375582:p.Glu152Asp	NA	B3KUE9|Q6P5A6	37	CCDS12963.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.042238	0.00402	.	.	ENSG00000178935	ENST00000391701	T	0.04654	3.58	1.4	-1.37	0.09056	.	.	.	.	.	T	0.01765	0.0056	N	0.03608	-0.345	0.09310	N	1	B;B	0.25169	0.119;0.0	B;B	0.28139	0.086;0.0	T	0.46925	-0.9156	9	0.06625	T	0.88	.	4.5962	0.12330	0.0:0.4734:0.3019:0.2246	.	148;152	B7Z1H1;Q9H707	.;ZN552_HUMAN	D	152	ENSP00000375582:E152D	ENSP00000375582:E152D	E	-	3	2	ZNF552	63011988	0.257000	0.24022	0.000000	0.03702	0.003000	0.03518	0.998000	0.29744	-0.283000	0.09115	0.205000	0.17691	GAG	ZNF552-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466829.1		-	ENST00000391701.1	Missense_Mutation	SNP	19 : 58320176 - 58320176 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	795	117
FAM135A	57579	broad.mit.edu	37	6	71243497	71243497	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:71243497G>A	ENST00000505769.1	+	18	3052	c.2645G>A	c.(2644-2646)cGt>cAt	p.R882H	FAM135A_ENST00000370479.3_Missense_Mutation_p.R1089H|FAM135A_ENST00000505868.1_Missense_Mutation_p.R1302H|FAM135A_ENST00000418814.2_Missense_Mutation_p.R1302H|FAM135A_ENST00000457062.2_Missense_Mutation_p.R1089H|FAM135A_ENST00000361499.3_Missense_Mutation_p.R1106H			Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1302								p.R1089H(1)		breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						ATGACTGATCGTCTTTTGGAT	0.254		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	central_nervous_system(1)											99	98	98			NA	NA	6		NA											NA				71243497		2197	4283	6480	SO:0001583	missense			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269	57579	57579			21084	protein-coding gene	gene with protein product			KIAA1411	KIAA1411	NA	10718198	Standard	NM_020819	NM_001105531	NA	Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000505769.1:c.2645G>A	6.37:g.71243497G>A	ENSP00000423785:p.Arg882His	NA	A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	37		.	.	.	.	.	.	.	.	.	.	G	29.6	5.019663	0.93462	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12	5.15	5.15	0.70609	Domain of unknown function DUF676, lipase-like (1);	0.106313	0.64402	D	0.000004	T	0.77890	0.4198	M	0.88704	2.975	0.80722	D	1	P;D;D;D;D	0.89917	0.902;1.0;1.0;0.998;1.0	P;D;D;P;D	0.97110	0.701;0.999;1.0;0.862;0.984	T	0.81586	-0.0865	10	0.62326	D	0.03	.	18.9956	0.92812	0.0:0.0:1.0:0.0	.	882;1302;1302;1106;1089	D6RCC7;Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;.;F135A_HUMAN;.;.	H	1302;1089;882;1089;1106;1302	ENSP00000410768:R1302H;ENSP00000359510:R1089H;ENSP00000423785:R882H;ENSP00000409201:R1089H;ENSP00000354913:R1106H;ENSP00000423307:R1302H	ENSP00000354913:R1106H	R	+	2	0	FAM135A	71300218	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.911000	0.87458	2.553000	0.86117	0.557000	0.71058	CGT	FAM135A-004	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000360643.1		+	ENST00000505769.1	Missense_Mutation	SNP	6 : 71243497 - 71243497 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	122	17
C3orf20	84077	broad.mit.edu	37	3	14798938	14798938	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14798938G>A	ENST00000253697.3	+	13	2453	c.2001G>A	c.(1999-2001)ccG>ccA	p.P667P	C3orf20_ENST00000412910.1_Silent_p.P545P|C3orf20_ENST00000435614.1_Silent_p.P545P	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	667						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CAGACTGCCCGCTGGTGCTGC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	44	44			NA	NA	3		NA											NA				14798938		2203	4300	6503	SO:0001819	synonymous_variant			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379	84077	84077			25320	protein-coding gene	gene with protein product					NA	11230166	Standard	NM_032137	NM_032137	NA	Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.2001G>A	3.37:g.14798938G>A		NA	Q7L0U6|Q8NCP2|Q9H0I7	37	CCDS33706.1																																																																																			C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340586.1		+	ENST00000253697.3	Silent	SNP	3 : 14798938 - 14798938 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	343	75
DUOX1	53905	broad.mit.edu	37	15	45455749	45455749	+	Missense_Mutation	SNP	C	C	T	rs140681354	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45455749C>T	ENST00000321429.4	+	33	4675	c.4268C>T	c.(4267-4269)aCg>aTg	p.T1423M	DUOX1_ENST00000561166.1_Missense_Mutation_p.T1069M|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.T1423M	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1423					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		ATCTGGGTGACGCGGACCCAG	0.562		NA									OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	MET/THR,MET/THR	2,4394	4.2+/-10.8	0,2,2196	99	90	93		4268,4268	4.4	1	15	dbSNP_134	93	0,8596		0,0,4298	yes	missense,missense	DUOX1	NM_017434.3,NM_175940.1	81,81	0,2,6494	TT,TC,CC	NA	0.0,0.0455,0.0154	probably-damaging,probably-damaging	1423/1552,1423/1552	45455749	2,12990	2198	4298	6496	SO:0001583	missense			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857	53905	53905		EF-hand domain containing	3062	protein-coding gene	gene with protein product	NADPH thyroid oxidase 1, flavoprotein NADPH oxidase, nicotinamide adenine dinucleotide phosphate oxidase	606758			NA	10806195	Standard	NM_017434	XM_005254463	NA	Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.4268C>T	15.37:g.45455749C>T	ENSP00000317997:p.Thr1423Met	931	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	37	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487713	0.84854	4.55E-4	0.0	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.95342	-3.68;-3.68	4.36	4.36	0.52297	Ferric reductase, NAD binding (1);	0.000000	0.85682	D	0.000000	D	0.97383	0.9144	M	0.89163	3.01	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.98119	1.0424	10	0.87932	D	0	-10.2487	14.4383	0.67298	0.0:1.0:0.0:0.0	.	1423	Q9NRD9	DUOX1_HUMAN	M	1423	ENSP00000317997:T1423M;ENSP00000373689:T1423M	ENSP00000317997:T1423M	T	+	2	0	DUOX1	43243041	1.000000	0.71417	0.975000	0.42487	0.973000	0.67179	5.894000	0.69806	2.243000	0.73865	0.491000	0.48974	ACG	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416251.1		+	ENST00000321429.4	Missense_Mutation	SNP	15 : 45455749 - 45455749 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	48
ITGA5	3678	broad.mit.edu	37	12	54802689	54802689	+	Silent	SNP	G	G	A	rs147213910		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54802689G>A	ENST00000293379.4	-	5	894	c.633C>T	c.(631-633)gcC>gcT	p.A211A	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	211					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TGGTGAACTCGGCACTGAAGC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								A		1,4405	2.1+/-5.4	0,1,2202	110	100	103		633	-9.3	0.1	12	dbSNP_134	103	0,8600		0,0,4300	no	coding-synonymous	ITGA5	NM_002205.2		0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077		211/1050	54802689	1,13005	2203	4300	6503	SO:0001819	synonymous_variant				CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638	3678	3678		CD molecules, Integrins	6141	protein-coding gene	gene with protein product		135620		FNRA	NA	2454952	Standard		NM_002205	NA	Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.633C>T	12.37:g.54802689G>A		NA	Q96HA5	37	CCDS8880.1																																																																																			ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406174.1		-	ENST00000293379.4	Silent	SNP	12 : 54802689 - 54802689 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	327	71
MAPK4	5596	broad.mit.edu	37	18	48255532	48255532	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:48255532C>T	ENST00000592595.1	+	4	1668	c.696C>T	c.(694-696)acC>acT	p.T232T	MAPK4_ENST00000400384.2_Missense_Mutation_p.P358S|MAPK4_ENST00000540640.1_Missense_Mutation_p.P147S			P31152	MK04_HUMAN	mitogen-activated protein kinase 4	0	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TTGCAGGTACCCTGTGAGCCT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	60	58			NA	NA	18		NA											NA				48255532		2152	4235	6387	SO:0001819	synonymous_variant			X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639	5596	5596		Mitogen-activated protein kinase cascade / Kinases	6878	protein-coding gene	gene with protein product		176949		PRKM4	NA	8290275	Standard	NM_002747	XM_005258299	NA	Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000592595.1:c.696C>T	18.37:g.48255532C>T		NA		37		.	.	.	.	.	.	.	.	.	.	C	10.95	1.495230	0.26774	.	.	ENSG00000141639	ENST00000400384;ENST00000540640	T;T	0.70045	-0.45;1.35	5.66	5.66	0.87406	.	0.206132	0.33631	N	0.004703	T	0.55178	0.1904	L	0.29908	0.895	0.80722	D	1	B	0.20459	0.045	B	0.18263	0.021	T	0.51268	-0.8727	10	0.11182	T	0.66	-19.5053	18.5086	0.90907	0.0:1.0:0.0:0.0	.	358	P31152	MK04_HUMAN	S	358;147	ENSP00000383234:P358S;ENSP00000439231:P147S	ENSP00000383234:P358S	P	+	1	0	MAPK4	46509530	1.000000	0.71417	0.998000	0.56505	0.587000	0.36485	6.559000	0.73946	2.665000	0.90641	0.561000	0.74099	CCT	MAPK4-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000448641.3		+	ENST00000592595.1	Silent	SNP	18 : 48255532 - 48255532 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	547	89
USP11	8237	broad.mit.edu	37	X	47103898	47103898	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47103898C>T	ENST00000377107.2	+	14	2146	c.1792C>T	c.(1792-1794)Cgc>Tgc	p.R598C	USP11_ENST00000218348.3_Splice_Site_p.R641C			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	641					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CTGTTGCAGACGCTACGTGAC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	70	76			NA	NA	X		NA											NA				47103898		2203	4300	6503	SO:0001630	splice_region_variant			U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226	8237	8237		Ubiquitin-specific peptidases	12609	protein-coding gene	gene with protein product		300050	ubiquitin specific protease 11		NA	12838346	Standard	NM_004651	XM_005272674	NA	Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000377107.2:c.1791-1C>T	X.37:g.47103898C>T		NA	B2RTX1|Q8IUG6|Q9BWE1	37		.	.	.	.	.	.	.	.	.	.	C	18.56	3.651027	0.67472	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.26067	1.78;1.76	3.91	3.91	0.45181	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.239380	0.34853	N	0.003627	T	0.32704	0.0838	M	0.75884	2.315	0.52099	D	0.999941	P;P	0.43542	0.81;0.5	B;B	0.43701	0.428;0.096	T	0.25257	-1.0137	10	0.87932	D	0	-18.5693	10.4162	0.44322	0.0:1.0:0.0:0.0	.	368;641	B3KP28;P51784	.;UBP11_HUMAN	C	598;641	ENSP00000366311:R598C;ENSP00000218348:R641C	ENSP00000218348:R641C	R	+	1	0	USP11	46988842	0.997000	0.39634	0.996000	0.52242	0.955000	0.61496	1.207000	0.32333	2.217000	0.71921	0.600000	0.82982	CGC	USP11-002	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000056399.2	Missense_Mutation	+	ENST00000377107.2	Splice_Site	SNP	X : 47103898 - 47103898 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	193	38
OPRL1	4987	broad.mit.edu	37	20	62729818	62729818	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62729818G>A	ENST00000349451.3	+	6	1191	c.779G>A	c.(778-780)cGc>cAc	p.R260H	OPRL1_ENST00000336866.2_Missense_Mutation_p.R260H|OPRL1_ENST00000355631.4_Missense_Mutation_p.R260H	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	260					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					AACCTGCGGCGCATCACTCGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	85	88			NA	NA	20		NA											NA				62729818		2203	4299	6502	SO:0001583	missense				CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510	4987	4987		GPCR / Class A : Opioid receptors	8155	protein-coding gene	gene with protein product	LC132 receptor-like, orphanin FQ receptor, kappa3-related opioid receptor	602548			NA	8137918	Standard	NM_182647	NM_000913	NA	Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.779G>A	20.37:g.62729818G>A	ENSP00000336764:p.Arg260His	NA	Q8TD34|Q8WYH9|Q9H4K4	37	CCDS13556.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064555	0.93898	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.43688	0.94;0.94;0.94	4.75	4.75	0.60458	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.71745	0.3376	M	0.90705	3.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.79808	-0.1647	10	0.87932	D	0	.	17.7855	0.88536	0.0:0.0:1.0:0.0	.	255;260	P41146-2;P41146	.;OPRX_HUMAN	H	260	ENSP00000336843:R260H;ENSP00000347848:R260H;ENSP00000336764:R260H	ENSP00000336843:R260H	R	+	2	0	OPRL1	62200262	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	7.785000	0.85724	2.193000	0.70182	0.500000	0.49745	CGC	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080295.1		+	ENST00000349451.3	Missense_Mutation	SNP	20 : 62729818 - 62729818 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	476	19
SRP68	6730	broad.mit.edu	37	17	74060140	74060140	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74060140G>A	ENST00000539137.1	-	3	379	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	SRP68_ENST00000355113.5_Missense_Mutation_p.R59C|SRP68_ENST00000307877.2_Missense_Mutation_p.R160C	NM_001260502.1	NP_001247431.1	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	160					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						ACGGCTTTGCGTAGGCGAGAT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													189	166	174			NA	NA	17		NA											NA				74060140		2203	4300	6503	SO:0001583	missense			AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881	6730	6730			11302	protein-coding gene	gene with protein product		604858	signal recognition particle 68kD		NA	10618370	Standard	NM_014230	NM_014230	NA	Approved		uc002jqk.2	Q9UHB9		ENST00000539137.1:c.364C>T	17.37:g.74060140G>A	ENSP00000446136:p.Arg122Cys	NA	Q8NCJ4|Q8WUK2	37	CCDS58601.1	.	.	.	.	.	.	.	.	.	.	G	35	5.495567	0.96355	.	.	ENSG00000167881	ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220;ENST00000355113	.	.	.	5.83	5.83	0.93111	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.82944	0.5147	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.987	D	0.83768	0.0218	9	0.87932	D	0	-20.1451	20.1099	0.97909	0.0:0.0:1.0:0.0	.	122;160	G3V1U4;Q9UHB9	.;SRP68_HUMAN	C	122;160;160;160;59	.	ENSP00000307756:R160C	R	-	1	0	SRP68	71571735	1.000000	0.71417	0.970000	0.41538	0.996000	0.88848	9.756000	0.98918	2.753000	0.94483	0.585000	0.79938	CGC	SRP68-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449491.1		-	ENST00000539137.1	Missense_Mutation	SNP	17 : 74060140 - 74060140 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	703	136
DPP4	1803	broad.mit.edu	37	2	162862277	162862277	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162862277T>G	ENST00000360534.3	-	23	2590	c.2030A>C	c.(2029-2031)gAa>gCa	p.E677A	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	677					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			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)	AAGGTTGTCTTCTGGAGTTGG	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	99	101			NA	NA	2		NA											NA				162862277		2203	4300	6503	SO:0001583	missense			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.2030A>C	2.37:g.162862277T>G	ENSP00000353731:p.Glu677Ala	NA	Q53TN1	37	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	T	12.45	1.942857	0.34283	.	.	ENSG00000197635	ENST00000360534	T	0.31247	1.5	5.99	5.99	0.97316	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.560335	0.20171	N	0.097723	T	0.20292	0.0488	N	0.16790	0.44	0.35475	D	0.797671	B	0.06786	0.001	B	0.12837	0.008	T	0.21075	-1.0256	10	0.27082	T	0.32	-27.9427	12.3179	0.54969	0.0:0.0674:0.0:0.9326	.	677	P27487	DPP4_HUMAN	A	677	ENSP00000353731:E677A	ENSP00000353731:E677A	E	-	2	0	DPP4	162570523	0.941000	0.31946	1.000000	0.80357	0.884000	0.51177	0.838000	0.27572	2.296000	0.77279	0.533000	0.62120	GAA	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255079.2		-	ENST00000360534.3	Missense_Mutation	SNP	2 : 162862277 - 162862277 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	209	39
QSER1	79832	broad.mit.edu	37	11	32987888	32987888	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32987888C>T	ENST00000399302.2	+	9	4960	c.4625C>T	c.(4624-4626)aCa>aTa	p.T1542I	QSER1_ENST00000527788.1_Missense_Mutation_p.T1303I	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1542										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TTTTTGAACACAAGAGCAATG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	117	119			NA	NA	11		NA											NA				32987888		1839	4086	5925	SO:0001583	missense			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749	79832	79832			26154	protein-coding gene	gene with protein product					NA		Standard	NM_024774	XM_006718323	NA	Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.4625C>T	11.37:g.32987888C>T	ENSP00000382241:p.Thr1542Ile	NA	Q6ZU30|Q6ZUR5	37	CCDS41631.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.4|29.4	5.001792|5.001792	0.93227|0.93227	.|.	.|.	ENSG00000060749|ENSG00000060749	ENST00000524678|ENST00000399302;ENST00000078652;ENST00000527788	.|T;T	.|0.50001	.|0.76;0.76	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.000000	.|0.64402	.|D	.|0.000008	.|T	.|0.68586	.|0.3017	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.998;0.997;0.999	.|T	.|0.70230	.|-0.4929	.|10	.|0.87932	.|D	.|0	.|.	19.6126|19.6126	0.95616|0.95616	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1303;1303;1542	.|C9JJ88;Q2KHR3-2;Q2KHR3	.|.;.;QSER1_HUMAN	X|I	563|1542;1303;1303	.|ENSP00000382241:T1542I;ENSP00000432766:T1303I	.|ENSP00000078652:T1303I	Q|T	+|+	1|2	0|0	QSER1|QSER1	32944464|32944464	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.980000|6.980000	0.76160|0.76160	2.630000|2.630000	0.89119|0.89119	0.591000|0.591000	0.81541|0.81541	CAA|ACA	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388448.1		+	ENST00000399302.2	Missense_Mutation	SNP	11 : 32987888 - 32987888 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	558	92
SEC16A	9919	broad.mit.edu	37	9	139357393	139357393	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139357393C>T	ENST00000371706.3	-	10	4338	c.4305G>A	c.(4303-4305)tcG>tcA	p.S1435S	SEC16A_ENST00000431893.2_Silent_p.S1435S|SEC16A_ENST00000290037.6_Silent_p.S1435S|SEC16A_ENST00000313050.7_Silent_p.S1613S			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1435					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CTCTCTCGAGCGAGCTGGCGG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4076		0,0,2038	46	55	52		4839	-9.6	0	9		52	1,8353		0,1,4176	no	coding-synonymous	SEC16A	NM_014866.1		0,1,6214	TT,TC,CC	NA	0.012,0.0,0.0080		1613/2358	139357393	1,12429	2038	4177	6215	SO:0001819	synonymous_variant			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396	9919	9919			29006	protein-coding gene	gene with protein product		612854	KIAA0310	KIAA0310	NA	9205841	Standard	XM_088459	NM_014866	NA	Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.4305G>A	9.37:g.139357393C>T		NA	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	37																																																																																				SEC16A-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000055077.1		-	ENST00000371706.3	Silent	SNP	9 : 139357393 - 139357393 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	398	70
TNK2	10188	broad.mit.edu	37	3	195593780	195593780	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195593780G>A	ENST00000333602.6	-	14	3707	c.3090C>T	c.(3088-3090)tcC>tcT	p.S1030S	TNK2_ENST00000428187.1_Silent_p.S1032S|TNK2_ENST00000381916.2_Silent_p.S1078S|TNK2_ENST00000392400.1_Silent_p.S1030S	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	1030				Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CAGGGCCCCAGGAGCCCAGAA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	29	27			NA	NA	3		NA											NA				195593780		2195	4297	6492	SO:0001819	synonymous_variant			L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938	10188	10188			19297	protein-coding gene	gene with protein product	activated Cdc42-associated kinase 1	606994			NA	8497321, 14506255	Standard	NM_005781	XM_006713460	NA	Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.3090C>T	3.37:g.195593780G>A		NA	Q6ZMQ0|Q8N6U7|Q96H59	37	CCDS33928.1																																																																																			TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341437.3		-	ENST00000333602.6	Silent	SNP	3 : 195593780 - 195593780 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	114	13
PRKD1	5587	broad.mit.edu	37	14	30107904	30107904	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:30107904G>A	ENST00000331968.5	-	5	1132	c.903C>T	c.(901-903)tgC>tgT	p.C301C	PRKD1_ENST00000415220.2_Silent_p.C309C|PRKD1_ENST00000551644.1_5'UTR	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	301					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CCTTACCTTTGCACTGCAAGC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	51	53			NA	NA	14		NA											NA				30107904		2203	4300	6503	SO:0001819	synonymous_variant				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	5587	5587	2.7.11.1	Pleckstrin homology (PH) domain containing	9407	protein-coding gene	gene with protein product		605435	protein kinase C, mu	PRKCM	NA	8119958, 10965134	Standard	NM_002742	NM_002742	NA	Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.903C>T	14.37:g.30107904G>A		NA	A6NL64|B2RAF6	37	CCDS9637.1																																																																																			PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276611.2		-	ENST00000331968.5	Silent	SNP	14 : 30107904 - 30107904 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	211	42
VTCN1	79679	broad.mit.edu	37	1	117695864	117695864	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117695864G>T	ENST00000369458.3	-	4	651	c.573C>A	c.(571-573)ttC>ttA	p.F191L	VTCN1_ENST00000359008.4_Missense_Mutation_p.F194L|VTCN1_ENST00000539893.1_Missense_Mutation_p.F96L|VTCN1_ENST00000328189.3_Missense_Mutation_p.F75L|VTCN1_ENST00000463461.1_5'UTR	NM_024626.3	NP_078902.2	Q7Z7D3	VTCN1_HUMAN	V-set domain containing T cell activation inhibitor 1	191	Ig-like V-type 2.					integral to membrane|plasma membrane		p.F191L(1)		large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		AGACTTCCGAGAAGTTGGCTC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											108	102	104			NA	NA	1		NA											NA				117695864		2203	4300	6503	SO:0001583	missense			BX648021	CCDS894.1, CCDS58019.1, CCDS58020.1	1p12	2013-01-29			ENSG00000134258	ENSG00000134258	79679	79679		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	28873	protein-coding gene	gene with protein product	B7 family member, H4, B7 superfamily member 1	608162			NA	12818165, 12818166	Standard	NM_024626	NM_024626	NA	Approved	B7-H4, FLJ22418, B7S1, B7X, B7H4	uc001ehb.3	Q7Z7D3	OTTHUMG00000012118	ENST00000369458.3:c.573C>A	1.37:g.117695864G>T	ENSP00000358470:p.Phe191Leu	NA	Q0GN76|Q45VN0|Q5WPZ3|Q9H6B2	37	CCDS894.1	.	.	.	.	.	.	.	.	.	.	G	4.078	0.012318	0.07912	.	.	ENSG00000134258	ENST00000369458;ENST00000359008;ENST00000328189;ENST00000539893	T;T;T;T	0.18174	3.74;3.73;2.23;4.12	5.34	2.48	0.30137	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.090168	0.49305	D	0.000159	T	0.01254	0.0041	N	0.01874	-0.695	0.30785	N	0.741619	B;B	0.23128	0.08;0.055	B;B	0.22386	0.039;0.018	T	0.45600	-0.9250	10	0.08837	T	0.75	-18.4057	4.6641	0.12657	0.2591:0.1737:0.5672:0.0	.	75;191	Q7Z7D3-2;Q7Z7D3	.;VTCN1_HUMAN	L	191;194;75;96	ENSP00000358470:F191L;ENSP00000351899:F194L;ENSP00000328168:F75L;ENSP00000444724:F96L	ENSP00000328168:F75L	F	-	3	2	VTCN1	117497387	0.991000	0.36638	1.000000	0.80357	0.859000	0.49053	0.072000	0.14617	0.948000	0.37687	-0.128000	0.14901	TTC	VTCN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033500.2		-	ENST00000369458.3	Missense_Mutation	SNP	1 : 117695864 - 117695864 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	469	38
GPR137	56834	broad.mit.edu	37	11	64054338	64054338	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64054338C>T	ENST00000411458.1	+	3	544	c.516C>T	c.(514-516)aaC>aaT	p.N172N	GPR137_ENST00000377702.4_Silent_p.N114N|GPR137_ENST00000438980.2_Silent_p.N114N|GPR137_ENST00000539851.1_Silent_p.N114N|GPR137_ENST00000313074.3_Silent_p.N114N	NM_001170726.1	NP_001164197.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	114						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CGCTTATGAACCTCTACTTTG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	79	78			NA	NA	11		NA											NA				64054338		2201	4297	6498	SO:0001819	synonymous_variant			AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264	56834	56834		GPCR / Unclassified : 7TM orphan receptors	24300	protein-coding gene	gene with protein product					NA	10873569, 12732197	Standard	NM_020155	NM_001170726	NA	Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000411458.1:c.516C>T	11.37:g.64054338C>T		NA	Q4G0Y9|Q8N4K6	37	CCDS53655.1																																																																																			GPR137-006	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396415.1		+	ENST00000411458.1	Silent	SNP	11 : 64054338 - 64054338 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	654	23
ZKSCAN8	7745	broad.mit.edu	37	6	28117327	28117327	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28117327G>T	ENST00000330236.6	+	3	668	c.484G>T	c.(484-486)Gag>Tag	p.E162*	ZKSCAN8_ENST00000457389.2_Nonsense_Mutation_p.E162*	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2			zinc finger with KRAB and SCAN domains 8	NA											NA						ATCTGCACCAGAGCCTCCAAA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	131	136			NA	NA	6		NA											NA				28117327		2203	4300	6503	SO:0001587	stop_gained				CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315	NA	7745		Zinc fingers, C2H2-type, -, -, -	12983	protein-coding gene	gene with protein product		602240	zinc finger protein 192	ZNF192	NA		Standard		NM_001278119	NA	Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.484G>T	6.37:g.28117327G>T	ENSP00000332750:p.Glu162*	NA		37	CCDS4645.1	.	.	.	.	.	.	.	.	.	.	G	36	5.680980	0.96774	.	.	ENSG00000198315	ENST00000330236;ENST00000457389	.	.	.	4.27	3.4	0.38934	.	0.276731	0.25464	N	0.030496	.	.	.	.	.	.	0.19300	N	0.999979	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	7.2943	0.26385	0.2095:0.0:0.7905:0.0	.	.	.	.	X	162	.	ENSP00000332750:E162X	E	+	1	0	ZNF192	28225306	0.004000	0.15560	0.335000	0.25508	0.933000	0.57130	0.669000	0.25142	1.113000	0.41760	0.563000	0.77884	GAG	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040178.2		+	ENST00000330236.6	Nonsense_Mutation	SNP	6 : 28117327 - 28117327 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	428	74
BBS10	79738	broad.mit.edu	37	12	76740403	76740403	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76740403A>C	ENST00000393262.3	-	2	1445	c.1362T>G	c.(1360-1362)agT>agG	p.S454R		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	454					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						GTGCTTGATAACTTTCTCCAC	0.348		NA							Bardet-Biedl syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	89	88			NA	NA	12		NA											NA				76740403		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941	79738	79738		Heat Shock Proteins / Chaperonins	26291	protein-coding gene	gene with protein product		610148	chromosome 12 open reading frame 58	C12orf58	NA	16582908	Standard	NM_024685	NM_024685	NA	Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.1362T>G	12.37:g.76740403A>C	ENSP00000376946:p.Ser454Arg	NA	Q96CW2|Q9H5D2	37	CCDS9014.2	.	.	.	.	.	.	.	.	.	.	A	1.011	-0.688023	0.03328	.	.	ENSG00000179941	ENST00000393262	D	0.85955	-2.05	4.68	2.25	0.28309	.	0.440664	0.21561	N	0.072570	T	0.78585	0.4306	L	0.50333	1.59	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	T	0.67074	-0.5762	10	0.46703	T	0.11	-1.8535	7.4204	0.27069	0.8247:0.0:0.1753:0.0	.	454	Q8TAM1	BBS10_HUMAN	R	454	ENSP00000376946:S454R	ENSP00000376946:S454R	S	-	3	2	BBS10	75264534	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.316000	0.19469	0.373000	0.24621	0.533000	0.62120	AGT	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000303983.2		-	ENST00000393262.3	Missense_Mutation	SNP	12 : 76740403 - 76740403 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	557	105
NSRP1	84081	broad.mit.edu	37	17	28512482	28512482	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28512482C>T	ENST00000247026.5	+	7	1530	c.1467C>T	c.(1465-1467)ccC>ccT	p.P489P	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	489					developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						AAGAGAAACCCTCTAATTCTG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	94	94			NA	NA	17		NA											NA				28512482		2203	4300	6503	SO:0001819	synonymous_variant			AL136806	CCDS11255.1, CCDS74025.1	17q11.2	2011-05-24	2011-05-24	2011-05-24	ENSG00000126653	ENSG00000126653	84081	84081			25305	protein-coding gene	gene with protein product			coiled-coil domain containing 55	CCDC55	NA	11230166	Standard	NM_032141	NM_032141	NA	Approved	DKFZP434K1421, NSrp70	uc002heu.4	Q9H0G5	OTTHUMG00000132754	ENST00000247026.5:c.1467C>T	17.37:g.28512482C>T		NA	Q6FI71	37	CCDS11255.1																																																																																			NSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256121.2		+	ENST00000247026.5	Silent	SNP	17 : 28512482 - 28512482 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	466	79
DUSP13	51207	broad.mit.edu	37	10	76867809	76867809	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76867809A>C	ENST00000372702.3	-	2	371	c.308T>G	c.(307-309)aTc>aGc	p.I103S	DUSP13_ENST00000491677.2_5'UTR|DUSP13_ENST00000607009.1_5'UTR|DUSP13_ENST00000372700.3_Intron|DUSP13_ENST00000607131.1_Intron			Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	103	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GTAGGCACTGATGTCAAAATC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(174;1655 2059 12324 40663 42963)							NA				0													42	52	49			NA	NA	10		NA											NA				76867809		2056	4190	6246	SO:0001583	missense			AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393	NA	51207		Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases	19681	protein-coding gene	gene with protein product		613191			NA	10585869	Standard		XM_005269883	NA	Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000372702.3:c.308T>G	10.37:g.76867809A>C	ENSP00000361787:p.Ile103Ser	NA	Q96J67	37	CCDS53542.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.927486	0.92389	.	.	ENSG00000079393	ENST00000372702	D	0.87966	-2.32	5.35	5.35	0.76521	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	.	.	.	.	D	0.95007	0.8384	H	0.95574	3.69	0.80722	D	1	D	0.56521	0.976	D	0.64506	0.926	D	0.96270	0.9198	9	0.87932	D	0	.	14.4397	0.67306	1.0:0.0:0.0:0.0	.	103	Q6B8I1	MDSP_HUMAN	S	103	ENSP00000361787:I103S	ENSP00000361787:I103S	I	-	2	0	DUSP13	76537815	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.420000	0.90256	2.244000	0.73946	0.533000	0.62120	ATC	DUSP13-012	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401503.3		-	ENST00000372702.3	Missense_Mutation	SNP	10 : 76867809 - 76867809 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	176	39
CNN2	1265	broad.mit.edu	37	19	1032601	1032601	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1032601G>A	ENST00000263097.4	+	4	659	c.296G>A	c.(295-297)gGc>gAc	p.G99D	CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000348419.3_Missense_Mutation_p.G99D|CNN2_ENST00000565096.2_Missense_Mutation_p.G99D|CNN2_ENST00000562958.2_Missense_Mutation_p.G99D	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	99	CH.				actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCAGCTACGGCATGAACCCT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	68	71			NA	NA	19		NA											NA				1032601		2203	4300	6503	SO:0001583	missense			D83735	CCDS12053.1, CCDS12054.1	19p13.3	2011-02-18			ENSG00000064666	ENSG00000064666	1265	1265			2156	protein-coding gene	gene with protein product		602373			NA	8889829	Standard	NM_004368	NM_004368	NA	Approved		uc002lqu.3	Q99439		ENST00000263097.4:c.296G>A	19.37:g.1032601G>A	ENSP00000263097:p.Gly99Asp	NA	A5D8U8|D6W5X9|Q92578	37	CCDS12053.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339530	0.81911	.	.	ENSG00000064666	ENST00000263097;ENST00000348419;ENST00000442531	T;T	0.67171	-0.25;-0.25	4.05	4.05	0.47172	Calponin homology domain (5);	0.000000	0.85682	U	0.000000	D	0.86636	0.5980	H	0.96301	3.8	0.54753	D	0.999987	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.87578	0.99;0.998;0.996;0.991;0.996	D	0.90803	0.4695	10	0.87932	D	0	.	13.759	0.62954	0.0:0.0:1.0:0.0	.	99;99;99;99;99	B4DUT8;B4DDF4;A6NFI4;Q99439;Q6FHE4	.;.;.;CNN2_HUMAN;.	D	99;99;78	ENSP00000263097:G99D;ENSP00000340129:G99D	ENSP00000263097:G99D	G	+	2	0	CNN2	983601	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.068000	0.93961	1.827000	0.53221	0.306000	0.20318	GGC	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000420293.3		+	ENST00000263097.4	Missense_Mutation	SNP	19 : 1032601 - 1032601 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	56
ZNF484	83744	broad.mit.edu	37	9	95609118	95609118	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95609118G>T	ENST00000375495.3	-	5	2099	c.1951C>A	c.(1951-1953)Ctc>Atc	p.L651I	ZNF484_ENST00000395506.3_Missense_Mutation_p.L653I|ZNF484_ENST00000332591.6_Missense_Mutation_p.L615I|ZNF484_ENST00000395505.2_Missense_Mutation_p.L615I|ANKRD19P_ENST00000473204.1_RNA	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	651					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TGTGTAAAGAGATTTGATCTG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	84	84			NA	NA	9		NA											NA				95609118		2203	4300	6503	SO:0001583	missense			AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081	83744	83744		Zinc fingers, C2H2-type, -	23385	protein-coding gene	gene with protein product					NA		Standard	XM_046861	NM_001007101	NA	Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.1951C>A	9.37:g.95609118G>T	ENSP00000364645:p.Leu651Ile	NA		37	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	13.00	2.107570	0.37145	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	2.36	2.36	0.29203	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.69922	0.3165	M	0.84846	2.72	0.09310	N	1	D;D	0.69078	0.997;0.997	D;D	0.91635	0.999;0.999	T	0.55829	-0.8079	9	0.62326	D	0.03	.	5.0637	0.14570	0.1664:0.0:0.8336:0.0	.	653;651	B4DRI2;Q5JVG2	.;ZN484_HUMAN	I	615;653;651;615	ENSP00000378881:L615I;ENSP00000378882:L653I;ENSP00000364645:L651I;ENSP00000364646:L615I	ENSP00000364646:L615I	L	-	1	0	ZNF484	94648939	0.999000	0.42202	1.000000	0.80357	0.905000	0.53344	3.262000	0.51538	1.622000	0.50330	0.551000	0.68910	CTC	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053111.2		-	ENST00000375495.3	Missense_Mutation	SNP	9 : 95609118 - 95609118 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	480	43
NEK5	341676	broad.mit.edu	37	13	52684547	52684547	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52684547C>T	ENST00000355568.4	-	7	536		c.e7-1			NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	NA							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GAAAAATGTTCTATAAATGGA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	141	145			NA	NA	13		NA											NA				52684547		2203	4300	6503	SO:0001630	splice_region_variant			BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168	341676	341676			7748	protein-coding gene	gene with protein product			NIMA (never in mitosis gene a)-related kinase 5		NA	9552363	Standard	NM_199289	XM_006719807	NA	Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.397-1G>A	13.37:g.52684547C>T		NA	Q5TAP5	37	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607818	0.66558	.	.	ENSG00000197168	ENST00000355568	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4119	0.90554	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NEK5	51582548	1.000000	0.71417	0.996000	0.52242	0.690000	0.40134	7.383000	0.79741	2.361000	0.80049	0.460000	0.39030	.	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045045.3	Intron	-	ENST00000355568.4	Splice_Site	SNP	13 : 52684547 - 52684547 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	459	42
HIST1H1D	3007	broad.mit.edu	37	6	26234693	26234693	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26234693T>C	ENST00000244534.5	-	1	523	c.469A>G	c.(469-471)Aag>Gag	p.K157E		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	157					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TTTACCTTCTTAGGAGTCTTT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	95	93			NA	NA	6		NA											NA				26234693		2203	4300	6503	SO:0001583	missense			M60747	CCDS4597.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000124575	ENSG00000124575	3007	3007		Histones / Replication-dependent	4717	protein-coding gene	gene with protein product		142210	H1 histone family, member 3, histone 1, H1d	H1F3	NA	1916825, 12408966	Standard	NM_005320	NM_005320	NA	Approved	H1.3, H1d, H1s-2	uc003nhd.3	P16402	OTTHUMG00000014432	ENST00000244534.5:c.469A>G	6.37:g.26234693T>C	ENSP00000244534:p.Lys157Glu	NA	B2R751|Q2M2I2	37	CCDS4597.1	.	.	.	.	.	.	.	.	.	.	.	14.41	2.527109	0.44969	.	.	ENSG00000124575	ENST00000244534	T	0.26518	1.73	5.22	5.22	0.72569	.	0.162509	0.52532	D	0.000080	T	0.20700	0.0498	N	0.08118	0	0.58432	D	0.999997	D	0.69078	0.997	D	0.75020	0.985	T	0.33879	-0.9851	10	0.66056	D	0.02	-6.8494	14.5864	0.68328	0.0:0.0:0.0:1.0	.	157	P16402	H13_HUMAN	E	157	ENSP00000244534:K157E	ENSP00000244534:K157E	K	-	1	0	HIST1H1D	26342672	1.000000	0.71417	0.883000	0.34634	0.006000	0.05464	5.885000	0.69736	2.115000	0.64714	0.528000	0.53228	AAG	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040095.1		-	ENST00000244534.5	Missense_Mutation	SNP	6 : 26234693 - 26234693 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	716	130
DIDO1	11083	broad.mit.edu	37	20	61512142	61512142	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61512142G>A	ENST00000266070.4	-	16	5491	c.5166C>T	c.(5164-5166)gaC>gaT	p.D1722D	DIDO1_ENST00000395343.1_Silent_p.D1722D	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1722					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTGGCTCTCTGTCCCCCTCTG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)							NA				0													64	75	71			NA	NA	20		NA											NA				61512142		2202	4299	6501	SO:0001819	synonymous_variant			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191	11083	11083		Zinc fingers, PHD-type	2680	protein-coding gene	gene with protein product		604140	chromosome 20 open reading frame 158, death associated transcription factor 1	C20orf158, DATF1	NA	10393935	Standard	NM_080796	NM_033081	NA	Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5166C>T	20.37:g.61512142G>A		NA	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	37	CCDS33506.1																																																																																			DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080091.2		-	ENST00000266070.4	Silent	SNP	20 : 61512142 - 61512142 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	659	128
TMEM173	340061	broad.mit.edu	37	5	138860390	138860390	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138860390G>A	ENST00000330794.4	-	5	838	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	TMEM173_ENST00000511850.1_5'UTR	NM_198282.2	NP_938023.1	Q86WV6	TM173_HUMAN	transmembrane protein 173	169					activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGGATCAGCCGCAGATATCCG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	55	57			NA	NA	5		NA											NA				138860390		2203	4300	6503	SO:0001583	missense				CCDS4215.1	5q31.2	2009-11-06			ENSG00000184584	ENSG00000184584	340061	340061			27962	protein-coding gene	gene with protein product		612374			NA	12477932	Standard	NM_198282	XM_005268445	NA	Approved	FLJ38577, NET23	uc003lep.3	Q86WV6	OTTHUMG00000129239	ENST00000330794.4:c.505C>T	5.37:g.138860390G>A	ENSP00000331288:p.Arg169Trp	NA	A8K3P6|B6EB35|D6RBX0|D6RE01|D6RID9	37	CCDS4215.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437981	0.62955	.	.	ENSG00000184584	ENST00000330794;ENST00000510817	T;T	0.26223	1.75;1.75	4.4	-0.251	0.13003	.	0.490146	0.20599	N	0.089186	T	0.38585	0.1046	M	0.63428	1.95	0.35366	D	0.788627	D	0.71674	0.998	P	0.56700	0.804	T	0.56685	-0.7938	10	0.87932	D	0	-16.9345	13.4541	0.61189	0.0:0.0:0.3906:0.6094	.	169	Q86WV6	TM173_HUMAN	W	169	ENSP00000331288:R169W;ENSP00000427455:R169W	ENSP00000331288:R169W	R	-	1	2	TMEM173	138840574	0.999000	0.42202	0.997000	0.53966	0.921000	0.55340	0.573000	0.23699	0.091000	0.17302	-0.314000	0.08810	CGG	TMEM173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251338.1		-	ENST00000330794.4	Missense_Mutation	SNP	5 : 138860390 - 138860390 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	189	35
STRA8	346673	broad.mit.edu	37	7	134928112	134928112	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134928112C>A	ENST00000275764.3	+	4	369	c.369C>A	c.(367-369)agC>agA	p.S123R		NM_182489.1	NP_872295.1	Q7Z7C7	STRA8_HUMAN	stimulated by retinoic acid 8	123					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						ATGCAAGCAGCTTAGAGGAGG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	99	103			NA	NA	7		NA											NA				134928112		2203	4300	6503	SO:0001583	missense			AF513502	CCDS5839.1	7q33	2012-12-07	2012-12-07		ENSG00000146857	ENSG00000146857	346673	346673			30653	protein-coding gene	gene with protein product		609987	stimulated by retinoic acid gene 8 homolog (mouse), stimulated by retinoic acid 8 homolog (mouse)		NA	12489526	Standard	NM_182489	NM_182489	NA	Approved		uc011kpx.2	Q7Z7C7	OTTHUMG00000155415	ENST00000275764.3:c.369C>A	7.37:g.134928112C>A	ENSP00000275764:p.Ser123Arg	NA		37	CCDS5839.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854274	0.51270	.	.	ENSG00000146857	ENST00000275764	.	.	.	5.29	3.14	0.36123	.	0.534314	0.19603	N	0.110330	T	0.54532	0.1864	M	0.62723	1.935	0.18873	N	0.999987	D	0.61080	0.989	P	0.58873	0.847	T	0.46414	-0.9193	9	0.72032	D	0.01	-17.1714	11.4153	0.49949	0.0:0.7779:0.0:0.2221	.	123	Q7Z7C7	STRA8_HUMAN	R	123	.	ENSP00000275764:S123R	S	+	3	2	STRA8	134578652	0.954000	0.32549	0.967000	0.41034	0.850000	0.48378	2.540000	0.45727	1.240000	0.43803	-0.253000	0.11424	AGC	STRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340028.1		+	ENST00000275764.3	Missense_Mutation	SNP	7 : 134928112 - 134928112 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	240	10
ZNF585B	92285	broad.mit.edu	37	19	37677451	37677451	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37677451C>T	ENST00000532828.2	-	5	1239	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.E275K	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCCCATATTCGGTACATATA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(93;882 1454 18863 28917 48427)							NA				0													177	162	167			NA	NA	19		NA											NA				37677451		2203	4300	6503	SO:0001583	missense			AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680	92285	92285		Zinc fingers, C2H2-type, -	30948	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152279	NM_152279	NA	Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.988G>A	19.37:g.37677451C>T	ENSP00000433773:p.Glu330Lys	NA	Q8IZD3|Q96JW6	37	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	C	7.874	0.728860	0.15507	.	.	ENSG00000245680	ENST00000531805;ENST00000532828	T;T	0.07327	3.2;3.2	2.93	1.87	0.25490	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.618927	0.13412	N	0.389765	T	0.05914	0.0154	N	0.20530	0.585	0.34244	D	0.677925	B;B	0.17667	0.023;0.014	B;B	0.14023	0.003;0.01	T	0.14035	-1.0487	10	0.56958	D	0.05	.	8.637	0.33955	0.0:0.8754:0.0:0.1246	.	275;330	E9PQH3;Q52M93	.;Z585B_HUMAN	K	275;330	ENSP00000436774:E275K;ENSP00000433773:E330K	ENSP00000436774:E275K	E	-	1	0	ZNF585B	42369291	0.000000	0.05858	0.006000	0.13384	0.279000	0.26890	-0.285000	0.08410	0.542000	0.28846	0.455000	0.32223	GAA	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388272.2		-	ENST00000532828.2	Missense_Mutation	SNP	19 : 37677451 - 37677451 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	839	146
ABI3BP	25890	broad.mit.edu	37	3	100484701	100484701	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100484701G>T	ENST00000471714.1	-	62	4916	c.4807C>A	c.(4807-4809)Ctg>Atg	p.L1603M	ABI3BP_ENST00000284322.5_Missense_Mutation_p.L901M|ABI3BP_ENST00000383691.4_Missense_Mutation_p.L855M			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	901						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TTTGGTTTCAGATTTTCTACT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	141	146			NA	NA	3		NA											NA				100484701		1864	4101	5965	SO:0001583	missense			AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175	25890	25890		Fibronectin type III domain containing	17265	protein-coding gene	gene with protein product	target of Nesh-SH3	606279			NA	11501947	Standard		NM_015429	NA	Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000471714.1:c.4807C>A	3.37:g.100484701G>T	ENSP00000420524:p.Leu1603Met	NA	B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	37		.	.	.	.	.	.	.	.	.	.	G	24.3	4.514097	0.85389	.	.	ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691	D;D;D	0.84873	-1.91;-1.91;-1.91	5.91	5.91	0.95273	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94679	0.8284	M	0.92649	3.33	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.95046	0.8182	10	0.87932	D	0	-11.0298	20.2963	0.98556	0.0:0.0:1.0:0.0	.	855;901;1603;610	B4DSV9;Q7Z7G0;D3YTG3;D3YTD6	.;TARSH_HUMAN;.;.	M	1603;901;610;312;855	ENSP00000420524:L1603M;ENSP00000284322:L901M;ENSP00000373189:L855M	ENSP00000284322:L901M	L	-	1	2	ABI3BP	101967391	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.566000	0.60843	2.813000	0.96785	0.655000	0.94253	CTG	ABI3BP-002	NOVEL	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000353261.1		-	ENST00000471714.1	Missense_Mutation	SNP	3 : 100484701 - 100484701 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	77	17
ECHDC3	79746	broad.mit.edu	37	10	11797423	11797423	+	Missense_Mutation	SNP	G	G	A	rs144927894		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11797423G>A	ENST00000379215.4	+	4	618	c.407G>A	c.(406-408)cGg>cAg	p.R136Q	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	136						mitochondrion	catalytic activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						ATGCACATCCGGAACCACCCC	0.537		NA											G	1	5e-04	0.002	NA	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9049	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0								G	GLN/ARG	4,4402	8.1+/-20.4	0,4,2199	75	54	61		407	1.2	1	10	dbSNP_134	61	0,8600		0,0,4300	yes	missense	ECHDC3	NM_024693.4	43	0,4,6499	AA,AG,GG	NA	0.0,0.0908,0.0308	benign	136/304	11797423	4,13002	2203	4300	6503	SO:0001583	missense			AF275677	CCDS7084.1	10p14	2010-04-30	2010-04-30		ENSG00000134463	ENSG00000134463	79746	79746			23489	protein-coding gene	gene with protein product			enoyl Coenzyme A hydratase domain containing 3		NA	12477932	Standard	NM_024693	NM_024693	NA	Approved	FLJ20909	uc001ikw.4	Q96DC8	OTTHUMG00000017675	ENST00000379215.4:c.407G>A	10.37:g.11797423G>A	ENSP00000368517:p.Arg136Gln	NA	Q53HR9|Q5W0J7|Q8WYY8|Q9BVL8|Q9H7G4	37	CCDS7084.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	3.169	-0.170462	0.06461	9.08E-4	0.0	ENSG00000134463	ENST00000379215;ENST00000420401;ENST00000422887	T;T;T	0.65732	-0.17;-0.17;-0.17	5.31	1.19	0.21007	Crotonase, core (1);	0.119864	0.64402	N	0.000013	T	0.34454	0.0898	N	0.05554	-0.025	0.45648	D	0.998573	B	0.12013	0.005	B	0.11329	0.006	T	0.07462	-1.0771	10	0.10902	T	0.67	.	9.3626	0.38206	0.8717:0.0:0.1283:0.0	.	136	Q96DC8	ECHD3_HUMAN	Q	136;189;63	ENSP00000368517:R136Q;ENSP00000405584:R189Q;ENSP00000398429:R63Q	ENSP00000368517:R136Q	R	+	2	0	ECHDC3	11837429	1.000000	0.71417	0.997000	0.53966	0.468000	0.32798	3.431000	0.52814	-0.001000	0.14495	-0.948000	0.02665	CGG	ECHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046771.1		+	ENST00000379215.4	Missense_Mutation	SNP	10 : 11797423 - 11797423 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	276	49
FAM20A	54757	broad.mit.edu	37	17	66596565	66596565	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66596565A>G	ENST00000592554.1	-	1	965	c.243T>C	c.(241-243)gcT>gcC	p.A81A		NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	81						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					GGCTGCCGCCAGCCGGTTCAG	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	16	14			NA	NA	17		NA											NA				66596565		2162	4240	6402	SO:0001819	synonymous_variant			AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950	54757	54757			23015	protein-coding gene	gene with protein product		611062			NA		Standard	NM_017565	NM_017565	NA	Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.243T>C	17.37:g.66596565A>G		NA	B2RN47|B2RN49|Q9UF95	37	CCDS11679.1																																																																																			FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450029.2		-	ENST00000592554.1	Silent	SNP	17 : 66596565 - 66596565 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	150	17
FGD6	55785	broad.mit.edu	37	12	95602826	95602826	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95602826G>A	ENST00000343958.4	-	2	2457	c.2234C>T	c.(2233-2235)gCa>gTa	p.A745V	FGD6_ENST00000549499.1_Missense_Mutation_p.A745V|FGD6_ENST00000546711.1_Missense_Mutation_p.A745V	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	745					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						ATACTCCGGTGCACAGAGGCT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	100	102			NA	NA	12		NA											NA				95602826		2203	4300	6503	SO:0001583	missense			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263	55785	55785		Zinc fingers, FYVE domain containing, Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	21740	protein-coding gene	gene with protein product		613520			NA		Standard	NM_018351	NM_018351	NA	Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.2234C>T	12.37:g.95602826G>A	ENSP00000344446:p.Ala745Val	NA	Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	37	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.485944	0.26686	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.68903	-0.25;-0.36;-0.28	5.77	1.59	0.23543	.	0.284335	0.25296	N	0.031683	T	0.42562	0.1208	N	0.25647	0.755	0.09310	N	0.999995	B	0.15930	0.015	B	0.11329	0.006	T	0.11690	-1.0577	10	0.12103	T	0.63	-1.6594	2.7736	0.05341	0.2026:0.2271:0.459:0.1112	.	745	Q6ZV73	FGD6_HUMAN	V	745	ENSP00000344446:A745V;ENSP00000450342:A745V;ENSP00000449005:A745V	ENSP00000344446:A745V	A	-	2	0	FGD6	94126957	0.000000	0.05858	0.229000	0.23960	0.981000	0.71138	-0.042000	0.12063	0.308000	0.22923	0.561000	0.74099	GCA	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407600.1		-	ENST00000343958.4	Missense_Mutation	SNP	12 : 95602826 - 95602826 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	512	47
FBXL4	26235	broad.mit.edu	37	6	99374837	99374837	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99374837C>T	ENST00000369244.2	-	4	456	c.28G>A	c.(28-30)Gtt>Att	p.V10I	FBXL4_ENST00000229971.1_Missense_Mutation_p.V10I	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	10					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		ATGGTCAGAACTGTTAACATG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	113	115			NA	NA	6		NA											NA				99374837		2203	4300	6503	SO:0001583	missense			AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234	26235	26235		F-boxes / Leucine-rich repeats	13601	protein-coding gene	gene with protein product		605654			NA	10531035	Standard		NM_012160	NA	Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.28G>A	6.37:g.99374837C>T	ENSP00000358247:p.Val10Ile	NA	E1P530|O95919|Q5BJH0|Q9UJU0	37	CCDS5041.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092630	0.56075	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.15017	2.46;2.46	5.52	4.66	0.58398	.	0.057782	0.64402	D	0.000001	T	0.09555	0.0235	L	0.51422	1.61	0.47547	D	0.999454	B	0.34372	0.451	B	0.31869	0.137	T	0.03354	-1.1045	10	0.66056	D	0.02	.	14.7707	0.69675	0.0:0.9303:0.0:0.0697	.	10	Q9UKA2	FBXL4_HUMAN	I	10	ENSP00000358247:V10I;ENSP00000229971:V10I	ENSP00000229971:V10I	V	-	1	0	FBXL4	99481558	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.935000	0.56560	1.474000	0.48178	0.650000	0.86243	GTT	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041587.2		-	ENST00000369244.2	Missense_Mutation	SNP	6 : 99374837 - 99374837 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	555	18
HEMK1	51409	broad.mit.edu	37	3	50608542	50608542	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50608542C>A	ENST00000232854.4	+	2	559	c.7C>A	c.(7-9)Ctt>Att	p.L3I	HEMK1_ENST00000455834.1_Missense_Mutation_p.L3I|HEMK1_ENST00000434410.1_Missense_Mutation_p.L3I	NM_016173.3	NP_057257.1	Q9Y5R4	HEMK1_HUMAN	HemK methyltransferase family member 1	3					DNA methylation		DNA binding|N-methyltransferase activity|protein methyltransferase activity			lung(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		AGACATGGAGCTTTGGGGCCG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	46	44			NA	NA	3		NA											NA				50608542		2203	4300	6503	SO:0001583	missense			AF172244	CCDS2830.1	3p21	2008-02-05			ENSG00000114735	ENSG00000114735	51409	51409			24923	protein-coding gene	gene with protein product					NA	10690633	Standard	NM_016173	XM_005265218	NA	Approved	MTQ1	uc003dav.3	Q9Y5R4	OTTHUMG00000156849	ENST00000232854.4:c.7C>A	3.37:g.50608542C>A	ENSP00000232854:p.Leu3Ile	NA		37	CCDS2830.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452860	0.43531	.	.	ENSG00000114735	ENST00000434410;ENST00000232854;ENST00000455834	T;T;T	0.19806	2.12;2.12;2.12	5.41	3.55	0.40652	.	0.555495	0.16504	N	0.211525	T	0.10594	0.0259	N	0.08118	0	0.09310	N	1	B	0.26935	0.164	B	0.25405	0.06	T	0.27297	-1.0078	10	0.33940	T	0.23	-0.1948	9.0888	0.36598	0.0:0.8172:0.0:0.1828	.	3	Q9Y5R4	HEMK1_HUMAN	I	3	ENSP00000404843:L3I;ENSP00000232854:L3I;ENSP00000404334:L3I	ENSP00000232854:L3I	L	+	1	0	HEMK1	50583546	0.001000	0.12720	0.005000	0.12908	0.211000	0.24417	0.129000	0.15830	0.599000	0.29845	0.561000	0.74099	CTT	HEMK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346231.1		+	ENST00000232854.4	Missense_Mutation	SNP	3 : 50608542 - 50608542 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	389	29
SMC2	10592	broad.mit.edu	37	9	106896748	106896748	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:106896748C>T	ENST00000286398.7	+	23	3449	c.3161C>T	c.(3160-3162)gCt>gTt	p.A1054V	SMC2_ENST00000374793.3_Missense_Mutation_p.A1054V|SMC2_ENST00000374787.3_Missense_Mutation_p.A1054V|SMC2_ENST00000303219.8_Missense_Mutation_p.A1054V	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	1054					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GGTGCTAATGCTATGCTTGCA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	120	121			NA	NA	9		NA											NA				106896748		2203	4300	6503	SO:0001583	missense			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824	10592	10592		Structural maintenance of chromosomes proteins	14011	protein-coding gene	gene with protein product		605576	SMC2 (structural maintenance of chromosomes 2, yeast)-like 1, SMC2 structural maintenance of chromosomes 2-like 1 (yeast)	SMC2L1	NA	9789013	Standard		NM_006444	NA	Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.3161C>T	9.37:g.106896748C>T	ENSP00000286398:p.Ala1054Val	NA	Q6IEE0|Q9P1P2	37	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	C	34	5.406271	0.96051	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.06849	3.25;3.25;3.25;3.25	5.79	5.79	0.91817	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.40015	0.1100	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.45789	-0.9237	10	0.87932	D	0	-12.3446	18.6078	0.91272	0.0:1.0:0.0:0.0	.	1054	O95347	SMC2_HUMAN	V	1054	ENSP00000286398:A1054V;ENSP00000363925:A1054V;ENSP00000306152:A1054V;ENSP00000363919:A1054V	ENSP00000286398:A1054V	A	+	2	0	SMC2	105936569	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.741000	0.93983	0.484000	0.47621	GCT	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053470.1		+	ENST00000286398.7	Missense_Mutation	SNP	9 : 106896748 - 106896748 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	408	14
UTP20	27340	broad.mit.edu	37	12	101689296	101689296	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101689296C>A	ENST00000261637.4	+	12	1464	c.1290C>A	c.(1288-1290)tgC>tgA	p.C430*		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	430					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TTGTGAATTGCTTCTTAATTG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	45	46			NA	NA	12		NA											NA				101689296		2203	4300	6503	SO:0001587	stop_gained			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800	27340	27340			17897	protein-coding gene	gene with protein product	down regulated in metastasis	612822			NA	9673349, 15590835, 12837249	Standard	NM_014503	NM_014503	NA	Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.1290C>A	12.37:g.101689296C>A	ENSP00000261637:p.Cys430*	NA	Q9H3H4	37	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	C	36	5.824714	0.96989	.	.	ENSG00000120800	ENST00000261637	.	.	.	5.06	5.06	0.68205	.	0.250704	0.43919	D	0.000519	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-2.3695	18.4532	0.90711	0.0:1.0:0.0:0.0	.	.	.	.	X	430	.	ENSP00000261637:C430X	C	+	3	2	UTP20	100213427	1.000000	0.71417	1.000000	0.80357	0.262000	0.26303	2.366000	0.44204	2.354000	0.79902	0.650000	0.86243	TGC	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408242.1		+	ENST00000261637.4	Nonsense_Mutation	SNP	12 : 101689296 - 101689296 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	143	34
CD33	945	broad.mit.edu	37	19	51729117	51729117	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51729117A>C	ENST00000436584.2	+	2	151	c.96A>C	c.(94-96)aaA>aaC	p.K32N	CD33_ENST00000262262.4_Missense_Mutation_p.K159N|CD33_ENST00000421133.2_Missense_Mutation_p.K32N|CD33_ENST00000391796.3_Missense_Mutation_p.K159N			P20138	CD33_HUMAN	CD33 molecule	159	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GCCACTCCAAAAACCTGACCT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	87	86			NA	NA	19		NA											NA				51729117		2203	4300	6503	SO:0001583	missense			M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383	945	945		CD molecules, Sialic acid binding Ig-like lectins, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	1659	protein-coding gene	gene with protein product	sialic acid binding Ig-like lectin 3	159590	CD33 antigen (gp67)		NA	3139766, 9465907	Standard	NM_001772	NM_001772	NA	Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000436584.2:c.96A>C	19.37:g.51729117A>C	ENSP00000403331:p.Lys32Asn	NA	Q8TD24	37		.	.	.	.	.	.	.	.	.	.	.	5.940	0.357520	0.11239	.	.	ENSG00000105383	ENST00000436584;ENST00000262262;ENST00000421133;ENST00000391796	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	2.66	-5.33	0.02713	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	2.962470	0.01326	U	0.011118	T	0.15089	0.0364	L	0.29908	0.895	0.09310	N	1	B;B;B	0.26120	0.082;0.142;0.082	B;B;B	0.29663	0.105;0.037;0.065	T	0.19386	-1.0307	10	0.44086	T	0.13	.	5.2146	0.15336	0.2717:0.4967:0.2316:0.0	.	32;159;159	C9JEN7;F8WAL2;P20138	.;.;CD33_HUMAN	N	32;159;32;159	ENSP00000403331:K32N;ENSP00000262262:K159N;ENSP00000410126:K32N;ENSP00000375673:K159N	ENSP00000262262:K159N	K	+	3	2	CD33	56420929	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-1.755000	0.01814	-1.378000	0.02120	-0.666000	0.03841	AAA	CD33-005	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000464197.1		+	ENST00000436584.2	Missense_Mutation	SNP	19 : 51729117 - 51729117 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	729	139
TBXAS1	6916	broad.mit.edu	37	7	139655298	139655298	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139655298G>A	ENST00000336425.5	+	11	969	c.580G>A	c.(580-582)Gcc>Acc	p.A194T	TBXAS1_ENST00000411653.1_Missense_Mutation_p.A194T|TBXAS1_ENST00000448866.1_Missense_Mutation_p.A194T|TBXAS1_ENST00000425687.1_Missense_Mutation_p.A127T|TBXAS1_ENST00000458722.1_Missense_Mutation_p.A240T|TBXAS1_ENST00000414508.2_Missense_Mutation_p.A195T|TBXAS1_ENST00000263552.6_Missense_Mutation_p.A195T|TBXAS1_ENST00000416849.2_Missense_Mutation_p.A241T|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000436047.2_Missense_Mutation_p.A195T			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	194				A -> P (in Ref. 2; AAA60618, 4; AAC01761, 5; AAF99269/AAF99270/AAF99271/AAF99272/ AAF99273/AAF99274/AAF99275/AAF99276/ AAF99277/AAF99278/AAF99279 and 7; AAA36742).	hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					TGCCAGCGTCGCCTTTGGCAC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	99	99			NA	NA	7		NA											NA				139655298		2203	4300	6503	SO:0001583	missense			L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	6916	6916	5.3.99.5	Cytochrome P450s	11609	protein-coding gene	gene with protein product	cytochrome P450, family 5, subfamily A, polypeptide 1	274180	thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)		NA	1714723, 8964509	Standard		NM_001061	NA	Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.580G>A	7.37:g.139655298G>A	ENSP00000338087:p.Ala194Thr	NA	O14987|Q16844|Q8IUN1|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	37		.	.	.	.	.	.	.	.	.	.	G	18.35	3.604960	0.66445	.	.	ENSG00000059377	ENST00000425687;ENST00000263552;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000458722;ENST00000411653	T;T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.79	4.9	0.64082	.	0.052582	0.85682	D	0.000000	D	0.84520	0.5490	M	0.89414	3.03	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.991;0.982;0.998;1.0;0.991;0.998;0.998	D	0.87738	0.2583	10	0.66056	D	0.02	.	16.246	0.82445	0.0:0.0:0.8662:0.1338	.	175;241;146;127;195;195;194	B4DVP1;E7EP08;B4E0M5;E7ESB5;E7EMU9;Q53F23;P24557	.;.;.;.;.;.;THAS_HUMAN	T	127;195;194;241;195;195;194;240;194	ENSP00000388736:A127T;ENSP00000263552:A195T;ENSP00000338087:A194T;ENSP00000389414:A241T;ENSP00000392361:A195T;ENSP00000392702:A195T;ENSP00000402536:A194T;ENSP00000411274:A240T;ENSP00000411326:A194T	ENSP00000263552:A195T	A	+	1	0	TBXAS1	139301767	1.000000	0.71417	0.887000	0.34795	0.021000	0.10359	8.723000	0.91458	1.428000	0.47296	-0.182000	0.12963	GCC	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000348373.1		+	ENST00000336425.5	Missense_Mutation	SNP	7 : 139655298 - 139655298 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	777	144
XRN1	54464	broad.mit.edu	37	3	142095328	142095328	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142095328T>C	ENST00000264951.4	-	24	2941	c.2824A>G	c.(2824-2826)Agg>Ggg	p.R942G	XRN1_ENST00000392981.2_Missense_Mutation_p.R942G	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	942					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TACTTTCTCCTAGATCCTCTT	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	33	32			NA	NA	3		NA											NA				142095328		2198	4297	6495	SO:0001583	missense			AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127	54464	54464			30654	protein-coding gene	gene with protein product		607994			NA	12515382	Standard	NM_019001	XM_005247544	NA	Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.2824A>G	3.37:g.142095328T>C	ENSP00000264951:p.Arg942Gly	NA	Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	37	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.971976	0.74246	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.32272	1.46;1.46	5.53	5.53	0.82687	.	0.054497	0.85682	D	0.000000	T	0.31702	0.0805	L	0.56280	1.765	0.80722	D	1	B;B;B	0.18166	0.026;0.016;0.002	B;B;B	0.15484	0.008;0.013;0.002	T	0.04664	-1.0935	10	0.34782	T	0.22	-14.6321	15.6489	0.77076	0.0:0.0:0.0:1.0	.	803;942;942	B3KW17;Q8IZH2-2;Q8IZH2	.;.;XRN1_HUMAN	G	942	ENSP00000264951:R942G;ENSP00000376707:R942G	ENSP00000264951:R942G	R	-	1	2	XRN1	143578018	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.954000	0.70298	2.112000	0.64535	0.482000	0.46254	AGG	XRN1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354087.2		-	ENST00000264951.4	Missense_Mutation	SNP	3 : 142095328 - 142095328 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	189	38
PLXNA2	5362	broad.mit.edu	37	1	208217871	208217871	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208217871C>T	ENST00000367033.3	-	20	4613	c.3856G>A	c.(3856-3858)Gcc>Acc	p.A1286T		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1286					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CACTCCAAGGCCACACGGGAC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	79	85			NA	NA	1		NA											NA				208217871		2203	4300	6503	SO:0001583	missense			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356	5362	5362		Plexins	9100	protein-coding gene	gene with protein product	plexin 2, plexin-A2, semaphorin receptor OCT, transmembrane protein OCT	601054		PLXN2	NA	8570614	Standard	NM_025179	NM_025179	NA	Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.3856G>A	1.37:g.208217871C>T	ENSP00000356000:p.Ala1286Thr	NA	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	37	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557458	0.86231	.	.	ENSG00000076356	ENST00000367033	T	0.01034	5.42	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.07863	0.0197	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.02333	-1.1175	10	0.66056	D	0.02	.	18.2148	0.89881	0.0:1.0:0.0:0.0	.	1286	O75051	PLXA2_HUMAN	T	1286	ENSP00000356000:A1286T	ENSP00000356000:A1286T	A	-	1	0	PLXNA2	206284494	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	7.538000	0.82048	2.281000	0.76405	0.467000	0.42956	GCC	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088932.6		-	ENST00000367033.3	Missense_Mutation	SNP	1 : 208217871 - 208217871 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	61
XDH	7498	broad.mit.edu	37	2	31624144	31624144	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31624144A>G	ENST00000379416.3	-	4	296	c.248T>C	c.(247-249)gTt>gCt	p.V83A		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	83	2Fe-2S ferredoxin-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TGTCACTGCAACATGGTGCAA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(66;682 1445 30109 40147)							NA				0													109	81	90			NA	NA	2		NA											NA				31624144		2203	4300	6503	SO:0001583	missense			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	7498	7498	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	xanthene dehydrogenase		NA	8224915	Standard	NM_000379	NM_000379	NA	Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.248T>C	2.37:g.31624144A>G	ENSP00000368727:p.Val83Ala	NA	Q16681|Q16712|Q4PJ16	37	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.256555	0.00265	.	.	ENSG00000158125	ENST00000379416	T	0.21031	2.03	6.07	2.41	0.29592	Xanthine dehydrogenase, small subunit (1);Beta-grasp fold, ferredoxin-type (1);Ferredoxin (2);	0.716909	0.14120	N	0.340128	T	0.03263	0.0095	N	0.00094	-2.165	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.40459	-0.9562	10	0.02654	T	1	.	8.6268	0.33895	0.7144:0.0:0.2856:0.0	.	83	P47989	XDH_HUMAN	A	83	ENSP00000368727:V83A	ENSP00000368727:V83A	V	-	2	0	XDH	31477648	0.096000	0.21769	0.003000	0.11579	0.002000	0.02628	2.968000	0.49224	0.179000	0.19938	-0.256000	0.11100	GTT	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216840.1		-	ENST00000379416.3	Missense_Mutation	SNP	2 : 31624144 - 31624144 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	17
METTL2A	339175	broad.mit.edu	37	17	60522267	60522267	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60522267C>T	ENST00000311506.5	+	7	915	c.879C>T	c.(877-879)taC>taT	p.Y293Y		NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	293							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			TGCGAGATTACGGCCGCTATG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	101	102			NA	NA	17		NA											NA				60522267		2203	4300	6503	SO:0001819	synonymous_variant			AK000991	CCDS45752.1	17q23.3	2012-12-20		2006-02-10	ENSG00000087995	ENSG00000087995	339175	339175			25755	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_181725	NM_181725	NA	Approved	FLJ12760, METTL2	uc002izv.2	Q96IZ6	OTTHUMG00000164527	ENST00000311506.5:c.879C>T	17.37:g.60522267C>T		NA	A6NNC4|Q9H9G9|Q9NUI8|Q9P0B5	37	CCDS45752.1																																																																																			METTL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445130.1		+	ENST00000311506.5	Silent	SNP	17 : 60522267 - 60522267 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	242	39
H2AFY2	55506	broad.mit.edu	37	10	71851615	71851615	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71851615C>A	ENST00000373255.4	+	4	646	c.382C>A	c.(382-384)Ctc>Atc	p.L128I		NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	128	Lys-rich.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						GGAAACGATCCTCTCCCCACC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	78	82			NA	NA	10		NA											NA				71851615		2203	4300	6503	SO:0001583	missense			AF336304	CCDS7296.1	10q22.1	2011-01-27			ENSG00000099284	ENSG00000099284	55506	55506		Histones / Replication-independent	14453	protein-coding gene	gene with protein product					NA	11331621, 11262398	Standard	NM_018649	NM_018649	NA	Approved	macroH2A2	uc001jqm.3	Q9P0M6	OTTHUMG00000018396	ENST00000373255.4:c.382C>A	10.37:g.71851615C>A	ENSP00000362352:p.Leu128Ile	NA	Q5SQT2	37	CCDS7296.1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.250032	0.22880	.	.	ENSG00000099284	ENST00000373255	T	0.21932	1.98	5.85	5.85	0.93711	.	0.171146	0.52532	D	0.000065	T	0.13841	0.0335	N	0.16743	0.435	0.46823	D	0.999214	B	0.14438	0.01	B	0.06405	0.002	T	0.09271	-1.0682	10	0.02654	T	1	-2.6828	20.1574	0.98116	0.0:1.0:0.0:0.0	.	128	Q9P0M6	H2AW_HUMAN	I	128	ENSP00000362352:L128I	ENSP00000362352:L128I	L	+	1	0	H2AFY2	71521621	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.616000	0.67709	2.941000	0.99782	0.655000	0.94253	CTC	H2AFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048480.2		+	ENST00000373255.4	Missense_Mutation	SNP	10 : 71851615 - 71851615 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	341	41
TTLL8	164714	broad.mit.edu	37	22	50480200	50480200	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50480200G>A	ENST00000266182.6	-	7	679	c.680C>T	c.(679-681)cCg>cTg	p.P227L	TTLL8_ENST00000440475.1_Missense_Mutation_p.P227L					tubulin tyrosine ligase-like family, member 8	NA										NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		AAGCTGCCCCGGGAGGCCCCT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	39	38			NA	NA	22		NA											NA				50480200		2093	4217	6310	SO:0001583	missense					22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892	164714	164714		Tubulin tyrosine ligase-like family	34000	protein-coding gene	gene with protein product					NA	15890843	Standard	NM_001080447	XM_003403745	NA	Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.680C>T	22.37:g.50480200G>A	ENSP00000266182:p.Pro227Leu	NA		37		.	.	.	.	.	.	.	.	.	.	G	14.72	2.618531	0.46736	.	.	ENSG00000138892	ENST00000266182;ENST00000440475;ENST00000433387	T;T;T	0.54479	3.53;0.57;0.57	4.66	4.66	0.58398	.	0.667620	0.12772	N	0.440413	T	0.60418	0.2267	L	0.61036	1.89	0.09310	N	0.999999	D	0.71674	0.998	P	0.49597	0.616	T	0.55405	-0.8146	10	0.37606	T	0.19	.	16.4517	0.83993	0.0:0.0:1.0:0.0	.	227	B5MDV0	.	L	227;227;263	ENSP00000266182:P227L;ENSP00000387509:P227L;ENSP00000392252:P263L	ENSP00000266182:P227L	P	-	2	0	TTLL8	48822327	0.859000	0.29813	0.005000	0.12908	0.006000	0.05464	1.942000	0.40243	2.406000	0.81754	0.484000	0.47621	CCG	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding			-	ENST00000266182.6	Missense_Mutation	SNP	22 : 50480200 - 50480200 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	80	15
HELZ2	85441	broad.mit.edu	37	20	62195237	62195237	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62195237C>T	ENST00000467148.1	-	8	5007	c.4938G>A	c.(4936-4938)gcG>gcA	p.A1646A	HELZ2_ENST00000427522.2_Silent_p.A1077A	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator	NA											NA						AGCGGCCGAACGCCGAGCGCT	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	15	16			NA	NA	20		NA											NA				62195237		2163	4281	6444	SO:0001819	synonymous_variant			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589	85441	85441			30021	protein-coding gene	gene with protein product	peroxisomal proliferator activated receptor A interacting complex 285, PPARG-DBD-interacting protein 1	611265			NA	11214970, 12189208, 16239304	Standard	NM_001037335	NM_001037335	NA	Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.4938G>A	20.37:g.62195237C>T		NA		37	CCDS33508.1																																																																																			HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354127.1		-	ENST00000467148.1	Silent	SNP	20 : 62195237 - 62195237 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	103	18
HSPA4L	22824	broad.mit.edu	37	4	128715243	128715243	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128715243C>T	ENST00000296464.4	+	2	530	c.119C>T	c.(118-120)tCa>tTa	p.S40L	HSPA4L_ENST00000439123.2_Missense_Mutation_p.S71L|HSPA4L_ENST00000505726.1_Missense_Mutation_p.S14L|HSPA4L_ENST00000508776.1_Missense_Mutation_p.S40L	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	NA					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GCCTGTATATCATTGGGATCA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	146	146			NA	NA	4		NA											NA				128715243		2203	4300	6503	SO:0001583	missense			AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070	22824	22824		Heat shock proteins / HSP70	17041	protein-coding gene	gene with protein product					NA	10524232	Standard	NM_014278	NM_014278	NA	Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.119C>T	4.37:g.128715243C>T	ENSP00000296464:p.Ser40Leu	NA	Q4W5M5|Q8IWA2	37	CCDS3734.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558041	0.86231	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000508549;ENST00000505726	T;T;T;T;T	0.01599	5.34;5.34;5.34;4.74;5.34	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.07503	0.0189	M	0.89095	3.005	0.80722	D	1	B;B;B	0.34147	0.438;0.124;0.124	B;B;B	0.41946	0.371;0.068;0.068	T	0.00849	-1.1541	10	0.72032	D	0.01	.	15.7735	0.78190	0.0:1.0:0.0:0.0	.	14;40;40	E9PDE8;A2ICT2;O95757	.;.;HS74L_HUMAN	L	40;71;40;40;14	ENSP00000422482:S40L;ENSP00000393926:S71L;ENSP00000296464:S40L;ENSP00000427305:S40L;ENSP00000425645:S14L	ENSP00000296464:S40L	S	+	2	0	HSPA4L	128934693	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.899000	0.75682	2.385000	0.81259	0.561000	0.74099	TCA	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257096.3		+	ENST00000296464.4	Missense_Mutation	SNP	4 : 128715243 - 128715243 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	716	129
OR14K1	343170	broad.mit.edu	37	1	247902511	247902511	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247902511G>A	ENST00000283225.2	+	1	595	c.595G>A	c.(595-597)Gcc>Acc	p.A199T	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1	NA										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						TGTCAGTGTGGCCATTGGGGT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													293	292	292			NA	NA	1		NA											NA				247902511		2047	4192	6239	SO:0001583	missense			BK004377		1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000153230	ENSG00000153230	343170	343170		GPCR / Class A : Olfactory receptors	15025	protein-coding gene	gene with protein product			olfactory receptor, family 5, subfamily AY, member 1	OR5AY1	NA		Standard	NM_001004732	NG_007559	NA	Approved			Q8NGZ2	OTTHUMG00000040211	ENST00000283225.2:c.595G>A	1.37:g.247902511G>A	ENSP00000283225:p.Ala199Thr	NA		37		.	.	.	.	.	.	.	.	.	.	G	11.01	1.513062	0.27123	.	.	ENSG00000153230	ENST00000283225	T	0.00130	8.69	3.81	-1.92	0.07618	.	1.043090	0.07745	N	0.947559	T	0.00144	0.0004	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.04976	-1.0914	7	0.28530	T	0.3	.	10.2451	0.43336	0.5362:0.0:0.4638:0.0	.	.	.	.	T	199	ENSP00000283225:A199T	ENSP00000283225:A199T	A	+	1	0	OR14K1	245969134	0.000000	0.05858	0.000000	0.03702	0.759000	0.43091	-3.743000	0.00378	-0.641000	0.05487	-1.284000	0.01376	GCC	OR14K1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000096868.1		+	ENST00000283225.2	Missense_Mutation	SNP	1 : 247902511 - 247902511 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	867	170
UTP20	27340	broad.mit.edu	37	12	101760367	101760367	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101760367C>T	ENST00000261637.4	+	47	6331	c.6157C>T	c.(6157-6159)Cta>Tta	p.L2053L		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2053					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AGATCCACGTCTACCACCCCA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	156	165			NA	NA	12		NA											NA				101760367		2203	4300	6503	SO:0001819	synonymous_variant			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800	27340	27340			17897	protein-coding gene	gene with protein product	down regulated in metastasis	612822			NA	9673349, 15590835, 12837249	Standard	NM_014503	NM_014503	NA	Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.6157C>T	12.37:g.101760367C>T		NA	Q9H3H4	37	CCDS9081.1																																																																																			UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408242.1		+	ENST00000261637.4	Silent	SNP	12 : 101760367 - 101760367 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	801	141
GDPD5	81544	broad.mit.edu	37	11	75153542	75153542	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75153542G>T	ENST00000526177.1	-	8	2497	c.619C>A	c.(619-621)Ctc>Atc	p.L207I	GDPD5_ENST00000376282.3_Missense_Mutation_p.L226I|GDPD5_ENST00000529721.1_Missense_Mutation_p.L345I|GDPD5_ENST00000533784.1_Missense_Mutation_p.L226I|GDPD5_ENST00000533805.1_Missense_Mutation_p.L100I|GDPD5_ENST00000336898.3_Missense_Mutation_p.L345I|GDPD5_ENST00000443276.2_3'UTR			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	345					glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						AGCTCCAGGAGCTCTGCCAGG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	44	45			NA	NA	11		NA											NA				75153542		2200	4293	6493	SO:0001583	missense			AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555	81544	81544			28804	protein-coding gene	gene with protein product		609632			NA	18667693, 17275818	Standard	NM_030792	NM_030792	NA	Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000526177.1:c.619C>A	11.37:g.75153542G>T	ENSP00000434050:p.Leu207Ile	NA	Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	37		.	.	.	.	.	.	.	.	.	.	g	28.3	4.912522	0.92178	.	.	ENSG00000158555	ENST00000526177;ENST00000533784;ENST00000529721;ENST00000336898;ENST00000533805;ENST00000376282	T;T;T;T;T;T	0.12465	2.68;2.68;2.68;2.68;2.68;2.68	5.34	5.34	0.76211	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.304858	0.31554	N	0.007460	T	0.24314	0.0589	L	0.41961	1.31	0.80722	D	1	D;D	0.57571	0.98;0.971	P;P	0.54664	0.758;0.755	T	0.00247	-1.1881	10	0.51188	T	0.08	-34.0308	16.549	0.84458	0.0:0.0:1.0:0.0	.	226;345	Q8WTR4-2;Q8WTR4	.;GDPD5_HUMAN	I	207;226;345;345;100;226	ENSP00000434050:L207I;ENSP00000437049:L226I;ENSP00000433214:L345I;ENSP00000337972:L345I;ENSP00000435196:L100I;ENSP00000365459:L226I	ENSP00000337972:L345I	L	-	1	0	GDPD5	74831190	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.266000	0.51569	2.498000	0.84270	0.450000	0.29827	CTC	GDPD5-007	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000384405.1		-	ENST00000526177.1	Missense_Mutation	SNP	11 : 75153542 - 75153542 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	211	32
GAK	2580	broad.mit.edu	37	4	877192	877192	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:877192G>A	ENST00000314167.4	-	13	1425	c.1315C>T	c.(1315-1317)Cgg>Tgg	p.R439W	GAK_ENST00000511163.1_Missense_Mutation_p.R360W	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	439	Phosphatase tensin-type.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		AGGAACAACCGCACATCTTCG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													203	170	181			NA	NA	4		NA											NA				877192		2203	4300	6503	SO:0001583	missense			D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950	2580	2580		Heat shock proteins / DNAJ (HSP40)	4113	protein-coding gene	gene with protein product	auxilin-2	602052			NA	9299234	Standard	NM_005255	NM_005255	NA	Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.1315C>T	4.37:g.877192G>A	ENSP00000314499:p.Arg439Trp	NA	Q9BVY6	37	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029078	0.54790	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	D;D	0.98567	-5.0;-5.0	5.34	4.48	0.54585	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.98764	0.9584	M	0.80982	2.52	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.968;0.997;0.995	D	0.99548	1.0965	10	0.87932	D	0	-36.7377	12.9889	0.58608	0.0:0.0:0.8372:0.1628	.	360;360;439;335	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	W	439;360	ENSP00000314499:R439W;ENSP00000421361:R360W	ENSP00000314499:R439W	R	-	1	2	GAK	867192	1.000000	0.71417	0.451000	0.26982	0.012000	0.07955	3.165000	0.50778	1.208000	0.43306	0.591000	0.81541	CGG	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239188.1		-	ENST00000314167.4	Missense_Mutation	SNP	4 : 877192 - 877192 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	671	103
SPTBN5	51332	broad.mit.edu	37	15	42178435	42178435	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42178435C>A	ENST00000320955.6	-	7	1245	c.1018G>T	c.(1018-1020)Gcc>Tcc	p.A340S		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	340					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGCCGCATGGCGGGCAGCGAG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	30	28			NA	NA	15		NA											NA				42178435		1993	4194	6187	SO:0001583	missense			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877	51332	51332			15680	protein-coding gene	gene with protein product	beta V spectrin	605916			NA	10764729	Standard	NM_016642	NM_016642	NA	Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.1018G>T	15.37:g.42178435C>A	ENSP00000317790:p.Ala340Ser	NA		37		.	.	.	.	.	.	.	.	.	.	C	16.38	3.108347	0.56291	.	.	ENSG00000137877	ENST00000320955	T	0.67345	-0.26	4.59	4.59	0.56863	.	0.194188	0.34676	N	0.003762	T	0.69672	0.3137	L	0.47716	1.5	0.22933	N	0.998543	D	0.58970	0.984	P	0.54026	0.74	T	0.62450	-0.6852	10	0.20519	T	0.43	.	17.0227	0.86438	0.0:1.0:0.0:0.0	.	340	Q9NRC6	SPTN5_HUMAN	S	340	ENSP00000317790:A340S	ENSP00000317790:A340S	A	-	1	0	SPTBN5	39965727	0.155000	0.22806	0.885000	0.34714	0.005000	0.04900	4.154000	0.58125	2.102000	0.63906	0.561000	0.74099	GCC	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000420237.1		-	ENST00000320955.6	Missense_Mutation	SNP	15 : 42178435 - 42178435 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	299	52
TGM3	7053	broad.mit.edu	37	20	2298000	2298000	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2298000G>A	ENST00000381458.5	+	7	915	c.852G>A	c.(850-852)ctG>ctA	p.L284L	TGM3_ENST00000463090.1_3'UTR	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	284					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TTGCAGCGCTGCGGTCTTTGG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	118	124			NA	NA	20		NA											NA				2298000		2203	4300	6503	SO:0001819	synonymous_variant			L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	7053	7053	2.3.2.13	Transglutaminases	11779	protein-coding gene	gene with protein product	E polypeptide, protein-glutamine-gamma-glutamyltransferase	600238	transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)		NA	7851911, 9452468	Standard	NM_003245	NM_003245	NA	Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.852G>A	20.37:g.2298000G>A		NA	A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	37	CCDS33435.1																																																																																			TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077579.2		+	ENST00000381458.5	Silent	SNP	20 : 2298000 - 2298000 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	539	102
MAGEE1	57692	broad.mit.edu	37	X	75648934	75648934	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:75648934C>T	ENST00000361470.2	+	1	889	c.611C>T	c.(610-612)cCt>cTt	p.P204L		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	204	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CTGCCTACACCTGGTGAGGGA	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	20	21			NA	NA	X		NA											NA				75648934		2197	4293	6490	SO:0001583	missense			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934	57692	57692			24934	protein-coding gene	gene with protein product		300759			NA	14623885	Standard	NM_020932	NM_020932	NA	Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.611C>T	X.37:g.75648934C>T	ENSP00000354912:p.Pro204Leu	NA	Q86TG0|Q8TD92|Q9H216	37	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	C	3.245	-0.154579	0.06544	.	.	ENSG00000198934	ENST00000361470	T	0.08984	3.03	2.06	-0.765	0.11023	.	.	.	.	.	T	0.02455	0.0075	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46707	-0.9172	9	0.14656	T	0.56	.	2.9393	0.05825	0.2359:0.5127:0.0:0.2513	.	204	Q9HCI5	MAGE1_HUMAN	L	204	ENSP00000354912:P204L	ENSP00000354912:P204L	P	+	2	0	MAGEE1	75565338	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.217000	0.02979	-0.317000	0.08677	-0.371000	0.07208	CCT	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057298.1		+	ENST00000361470.2	Missense_Mutation	SNP	X : 75648934 - 75648934 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	123	16
LMTK2	22853	broad.mit.edu	37	7	97821008	97821008	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97821008C>T	ENST00000297293.5	+	11	1524	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	411					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GACTTACCTGCGGCTGCAGAG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	58	60			NA	NA	7		NA											NA				97821008		2203	4300	6503	SO:0001583	missense			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715	22853	22853			17880	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 100	610989			NA	15005709	Standard	NM_014916	NM_014916	NA	Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1231C>T	7.37:g.97821008C>T	ENSP00000297293:p.Arg411Trp	NA	A4D272|Q75MG7|Q9UPS3	37	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936608	0.73442	.	.	ENSG00000164715	ENST00000297293	T	0.62788	-0.0	5.41	3.6	0.41247	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77329	0.4114	M	0.73598	2.24	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.78059	-0.2352	10	0.48119	T	0.1	.	14.3855	0.66942	0.2686:0.7314:0.0:0.0	.	411	Q8IWU2	LMTK2_HUMAN	W	411	ENSP00000297293:R411W	ENSP00000297293:R411W	R	+	1	2	LMTK2	97658944	1.000000	0.71417	0.829000	0.32907	0.781000	0.44180	4.639000	0.61361	0.767000	0.33267	-0.127000	0.14921	CGG	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334560.1		+	ENST00000297293.5	Missense_Mutation	SNP	7 : 97821008 - 97821008 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	267	42
PKLR	5313	broad.mit.edu	37	1	155265358	155265358	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155265358T>C	ENST00000392414.3	-	4	397	c.284A>G	c.(283-285)tAc>tGc	p.Y95C	PKLR_ENST00000342741.4_Splice_Site_p.Y126C	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	126			G -> R (in PKRD).		endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CTCAGCATGGTACTGGGGGAG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	36	36			NA	NA	1		NA											NA				155265358		2203	4300	6503	SO:0001630	splice_region_variant			BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	5313	5313	2.7.1.40		9020	protein-coding gene	gene with protein product		609712			NA	3566732	Standard	NM_000298	NM_000298	NA	Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000392414.3:c.283-1A>G	1.37:g.155265358T>C		NA	P11973	37	CCDS44240.1	.	.	.	.	.	.	.	.	.	.	T	19.65	3.868150	0.72065	.	.	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741;ENST00000271946	D;D	0.99445	-5.91;-5.91	4.25	4.25	0.50352	Pyruvate/Phosphoenolpyruvate kinase (2);Pyruvate kinase, barrel (1);	0.065304	0.64402	D	0.000005	D	0.99576	0.9847	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98139	1.0435	10	0.87932	D	0	-15.2275	11.6206	0.51115	0.0:0.0:0.0:1.0	.	126;117	P30613;B1AVT1	KPYR_HUMAN;.	C	151;95;126;62	ENSP00000376214:Y95C;ENSP00000339933:Y126C	ENSP00000271946:Y62C	Y	-	2	0	PKLR	153531982	1.000000	0.71417	0.998000	0.56505	0.569000	0.35902	7.650000	0.83521	1.907000	0.55213	0.528000	0.53228	TAC	PKLR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087408.2	Missense_Mutation	-	ENST00000392414.3	Splice_Site	SNP	1 : 155265358 - 155265358 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	242	23
ZNF568	374900	broad.mit.edu	37	19	37427667	37427667	+	Translation_Start_Site	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37427667A>T	ENST00000415168.1	+	0	339				ZNF568_ENST00000427117.1_Missense_Mutation_p.D52V|ZNF568_ENST00000455427.2_De_novo_Start_OutOfFrame|ZNF568_ENST00000333987.7_Missense_Mutation_p.D52V	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACATTTAAGGATGTGGCTGTT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	86	85			NA	NA	19		NA											NA				37427667		2202	4300	6502					BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453	374900	374900		Zinc fingers, C2H2-type, -	25392	protein-coding gene	gene with protein product					NA		Standard	NM_198539	NM_198539	NA	Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000415168.1:c.-38A>T	19.37:g.37427667A>T		NA	Q6N060|Q8NA64	37	CCDS56092.1	.	.	.	.	.	.	.	.	.	.	A	18.13	3.554855	0.65425	.	.	ENSG00000198453	ENST00000427117;ENST00000333987;ENST00000444991	T;T;T	0.12039	2.72;2.72;2.72	4.69	4.69	0.59074	Krueppel-associated box (4);	.	.	.	.	T	0.50205	0.1602	H	0.97440	4.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.64909	-0.6296	9	0.87932	D	0	.	10.4605	0.44577	1.0:0.0:0.0:0.0	.	52;52	C9JZ58;Q3ZCX4	.;ZN568_HUMAN	V	52	ENSP00000407012:D52V;ENSP00000334685:D52V;ENSP00000389794:D52V	ENSP00000334685:D52V	D	+	2	0	ZNF568	42119507	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.384000	0.52478	1.959000	0.56917	0.533000	0.62120	GAT	ZNF568-005	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000338316.2		+	ENST00000415168.1	De_novo_Start_OutOfFrame	SNP	19 : 37427667 - 37427667 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	350	61
PTPRO	5800	broad.mit.edu	37	12	15739837	15739837	+	Missense_Mutation	SNP	G	G	A	rs141467284	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15739837G>A	ENST00000281171.4	+	24	3592	c.3262G>A	c.(3262-3264)Gag>Aag	p.E1088K	PTPRO_ENST00000445537.2_Missense_Mutation_p.E277K|PTPRO_ENST00000542557.1_Missense_Mutation_p.E249K|PTPRO_ENST00000544244.1_Missense_Mutation_p.E249K|PTPRO_ENST00000442921.2_Missense_Mutation_p.E277K|PTPRO_ENST00000348962.2_Missense_Mutation_p.E1060K	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1088	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AAAGGCTGACGAGATGCAGGA	0.428		NA											G	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0													152	137	142			NA	NA	12		NA											NA				15739837		2203	4300	6503	SO:0001583	missense			U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490	5800	5800		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing	9678	protein-coding gene	gene with protein product	osteoclastic transmembrane protein-tyrosine phosphatase	600579			NA	7519601, 7665166, 21722858	Standard		NM_030667	NA	Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.3262G>A	12.37:g.15739837G>A	ENSP00000281171:p.Glu1088Lys	NA	A0AV39|Q13101	37	CCDS8675.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.08	3.298148	0.60086	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244;ENST00000535322	D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.0	5.0	0.66597	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.52532	D	0.000075	T	0.75332	0.3835	L	0.35341	1.055	0.58432	D	0.99999	P;D;D	0.60160	0.686;0.987;0.98	B;B;B	0.38056	0.085;0.172;0.264	T	0.80999	-0.1131	10	0.72032	D	0.01	.	18.493	0.90854	0.0:0.0:1.0:0.0	.	249;1060;1088	Q9UBT5;Q16827-2;Q16827	.;.;PTPRO_HUMAN	K	1088;1060;277;249;277;249;67	ENSP00000281171:E1088K;ENSP00000343434:E1060K;ENSP00000404188:E277K;ENSP00000437571:E249K;ENSP00000393449:E277K;ENSP00000439234:E249K;ENSP00000446201:E67K	ENSP00000281171:E1088K	E	+	1	0	PTPRO	15631104	1.000000	0.71417	0.998000	0.56505	0.898000	0.52572	6.253000	0.72453	2.588000	0.87417	0.650000	0.86243	GAG	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401079.1		+	ENST00000281171.4	Missense_Mutation	SNP	12 : 15739837 - 15739837 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	544	88
SETD6	79918	broad.mit.edu	37	16	58550529	58550529	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58550529C>A	ENST00000394266.4	+	5	473	c.417C>A	c.(415-417)cgC>cgA	p.R139R	SETD6_ENST00000418480.1_3'UTR|SETD6_ENST00000219315.4_Silent_p.R208R|SETD6_ENST00000310682.2_Silent_p.R184R			Q8TBK2	SETD6_HUMAN	SET domain containing 6	208	SET.				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						TCAGGGTTCGCTCCCTAGAAC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	76	76			NA	NA	16		NA											NA				58550529		2198	4300	6498	SO:0001819	synonymous_variant			AK024801	CCDS10798.1, CCDS54013.1	16q21	2008-02-05			ENSG00000103037	ENSG00000103037	79918	79918			26116	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024860	NM_024860	NA	Approved	FLJ21148	uc002ens.3	Q8TBK2	OTTHUMG00000150276	ENST00000394266.4:c.417C>A	16.37:g.58550529C>A		NA	A8K380|B5ME38|Q9H787	37																																																																																				SETD6-006	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000317277.2		+	ENST00000394266.4	Silent	SNP	16 : 58550529 - 58550529 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	306	54
PAK4	10298	broad.mit.edu	37	19	39667298	39667298	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39667298C>T	ENST00000599386.1	+	7	1150	c.969C>T	c.(967-969)gtC>gtT	p.V323V	PAK4_ENST00000321944.4_Silent_p.V386V|PAK4_ENST00000435673.2_Silent_p.V476V|PAK4_ENST00000360442.3_Silent_p.V476V|PAK4_ENST00000593690.1_Silent_p.V476V|PAK4_ENST00000358301.3_Silent_p.V476V|PAK4_ENST00000599470.1_Silent_p.V323V	NM_001014835.1	NP_001014835.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	476	GEF-interaction domain (GID).|Protein kinase.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			AGTCGCTGGTCGGCACGCCCT	0.657		NA											C	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.9547	EXOME	NA	NA	9e-04	SNP								NA				0													116	122	120			NA	NA	19		NA											NA				39667298		2203	4300	6503	SO:0001819	synonymous_variant			AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17				NA	10298			16059	protein-coding gene	gene with protein product		605451	p21(CDKN1A)-activated kinase 4		NA	9822598, 10461188	Standard		NM_001014831	NA	Approved		uc002okn.1	O96013		ENST00000599386.1:c.969C>T	19.37:g.39667298C>T		NA	B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	37	CCDS33019.1																																																																																			PAK4-015	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463824.1		+	ENST00000599386.1	Silent	SNP	19 : 39667298 - 39667298 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	990	202
ZSCAN12	9753	broad.mit.edu	37	6	28366051	28366051	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28366051G>T	ENST00000361028.1	-	2	277	c.132C>A	c.(130-132)gtC>gtA	p.V44V	ZSCAN12_ENST00000396827.3_Silent_p.V44V					zinc finger and SCAN domain containing 12	NA										breast(2)|endometrium(3)|urinary_tract(1)	6						ACTGACGGAAGACCTCTCTGC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													282	242	254			NA	NA	6		NA											NA				28366051		692	1591	2283	SO:0001819	synonymous_variant			AB007886		6p21	2013-01-08	2007-02-20	2007-02-20	ENSG00000158691	ENSG00000158691	9753	9753		-, Zinc fingers, C2H2-type	13172	protein-coding gene	gene with protein product		603978	zinc finger protein 305, zinc finger protein 96	ZNF305, ZNF96	NA	9244436	Standard	NM_014724	NM_001163391	NA	Approved	KIAA0426, ZNF29K1, ZFP96, dJ29K1.2	uc011dlh.2	O43309	OTTHUMG00000014522	ENST00000361028.1:c.132C>A	6.37:g.28366051G>T		NA		37																																																																																				ZSCAN12-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000040190.1		-	ENST00000361028.1	Silent	SNP	6 : 28366051 - 28366051 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	90	22
NUP214	8021	broad.mit.edu	37	9	134021520	134021520	+	Missense_Mutation	SNP	A	A	G	rs142397246		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134021520A>G	ENST00000359428.5	+	13	1918	c.1774A>G	c.(1774-1776)Act>Gct	p.T592A	NUP214_ENST00000451030.1_Missense_Mutation_p.T592A|RP11-544A12.4_ENST00000589667.1_RNA|NUP214_ENST00000411637.2_Intron|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	592	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TTTCAGGTTTACTGCTGCAGC	0.483		NA	T	DEK, SET, ABL1	AML, T-ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(4;24 48 25510 30394 32571)		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0													185	188	187			NA	NA	9		NA											NA				134021520		2203	4300	6503	SO:0001583	missense			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883	8021	8021			8064	protein-coding gene	gene with protein product	nuclear pore complex protein Nup214, CAN protein, putative oncogene	114350	nucleoporin 214kD (CAIN)		NA	8108440, 2370860	Standard	NM_005085	NM_005085	NA	Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.1774A>G	9.37:g.134021520A>G	ENSP00000352400:p.Thr592Ala	NA	A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	37	CCDS6940.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.13|11.13	1.547827|1.547827	0.27652|0.27652	.|.	.|.	ENSG00000126883|ENSG00000126883	ENST00000359428;ENST00000451030;ENST00000540899;ENST00000438605|ENST00000530863	T;T|.	0.31769|.	1.49;1.48|.	5.29|5.29	-1.79|-1.79	0.07932|0.07932	.|.	.|.	.|.	.|.	.|.	T|T	0.10895|0.10895	0.0266|0.0266	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.09022|.	0.002;0.002|.	B;B|.	0.11329|.	0.006;0.002|.	T|T	0.28332|0.28332	-1.0047|-1.0047	9|5	0.30078|.	T|.	0.28|.	.|.	1.5927|1.5927	0.02657|0.02657	0.4304:0.2805:0.166:0.1232|0.4304:0.2805:0.166:0.1232	.|.	185;592|.	Q5JUP9;P35658|.	.;NU214_HUMAN|.	A|C	592;592;185;21|167	ENSP00000352400:T592A;ENSP00000405014:T592A|.	ENSP00000352400:T592A|.	T|Y	+|+	1|2	0|0	NUP214|NUP214	133011341|133011341	0.013000|0.013000	0.17824|0.17824	0.009000|0.009000	0.14445|0.14445	0.129000|0.129000	0.20672|0.20672	0.585000|0.585000	0.23879|0.23879	0.007000|0.007000	0.14760|0.14760	0.402000|0.402000	0.26972|0.26972	ACT|TAC	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054694.2		+	ENST00000359428.5	Missense_Mutation	SNP	9 : 134021520 - 134021520 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1645	152
MAB21L2	10586	broad.mit.edu	37	4	151504454	151504454	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151504454C>T	ENST00000317605.4	+	1	1378	c.273C>T	c.(271-273)gaC>gaT	p.D91D	LRBA_ENST00000510413.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000357115.3_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	91					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TCGTGGACGACGGCTCGCTGC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	75	77			NA	NA	4		NA											NA				151504454		2203	4300	6503	SO:0001819	synonymous_variant			AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541	10586	10586			6758	protein-coding gene	gene with protein product		604357	mab-21 (C. elegans)-like 2		NA		Standard	NM_006439	NM_006439	NA	Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.273C>T	4.37:g.151504454C>T		NA	B3KP37|Q9HBA7	37	CCDS3774.1																																																																																			MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364937.1		+	ENST00000317605.4	Silent	SNP	4 : 151504454 - 151504454 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	510	90
OR4M1	441670	broad.mit.edu	37	14	20248580	20248580	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20248580C>A	ENST00000315957.4	+	1	180	c.99C>A	c.(97-99)tcC>tcA	p.S33S		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TATTTCTATCCTTCTATTTGT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													200	216	210			NA	NA	14		NA											NA				20248580		2203	4300	6503	SO:0001819	synonymous_variant				CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299	441670	441670		GPCR / Class A : Olfactory receptors	14735	protein-coding gene	gene with protein product					NA		Standard		NM_001005500	NA	Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.99C>A	14.37:g.20248580C>A		NA	B9EH18|Q6IFA3	37	CCDS32021.1																																																																																			OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409770.1		+	ENST00000315957.4	Silent	SNP	14 : 20248580 - 20248580 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1642	198
CDYL2	124359	broad.mit.edu	37	16	80718665	80718665	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:80718665T>C	ENST00000570137.2	-	2	541	c.386A>G	c.(385-387)gAc>gGc	p.D129G	CDYL2_ENST00000562812.1_Missense_Mutation_p.D129G|CDYL2_ENST00000563890.1_Missense_Mutation_p.D129G|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000566173.1_Missense_Mutation_p.D129G	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	NA						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GGTGGCCCTGTCACCTCCTGA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	84	83			NA	NA	16		NA											NA				80718665		2203	4300	6503	SO:0001583	missense			AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446	124359	124359			23030	protein-coding gene	gene with protein product			chromodomain Y-like protein 2		NA	12837688	Standard	NM_152342	NM_152342	NA	Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.386A>G	16.37:g.80718665T>C	ENSP00000476295:p.Asp129Gly	NA	Q7Z5I8	37	CCDS32493.1	.	.	.	.	.	.	.	.	.	.	T	10.42	1.345323	0.24426	.	.	ENSG00000166446	ENST00000299564	T	0.56776	0.44	5.14	5.14	0.70334	.	0.432209	0.23830	N	0.044141	T	0.46405	0.1391	N	0.14661	0.345	0.46542	D	0.999092	D	0.58620	0.983	P	0.55222	0.771	T	0.30679	-0.9970	10	0.12430	T	0.62	.	14.3011	0.66352	0.0:0.0:0.0:1.0	.	129	Q8N8U2	CDYL2_HUMAN	G	129	ENSP00000299564:D129G	ENSP00000299564:D129G	D	-	2	0	CDYL2	79276166	1.000000	0.71417	0.987000	0.45799	0.061000	0.15899	4.807000	0.62576	2.154000	0.67381	0.482000	0.46254	GAC	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434727.2		-	ENST00000570137.2	Missense_Mutation	SNP	16 : 80718665 - 80718665 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	458	86
HEATR5B	54497	broad.mit.edu	37	2	37268381	37268381	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37268381A>G	ENST00000233099.5	-	19	2846	c.2751T>C	c.(2749-2751)ggT>ggC	p.G917G	HEATR5B_ENST00000354531.2_Silent_p.G917G	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	917							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GATGCAAACAACCAAGAGCCA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													180	156	164			NA	NA	2		NA											NA				37268381		2203	4300	6503	SO:0001819	synonymous_variant			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869	54497	54497			29273	protein-coding gene	gene with protein product					NA	10718198	Standard	NM_019024	XM_005264379	NA	Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.2751T>C	2.37:g.37268381A>G		NA	B5MDU8|Q7Z3B2|Q9NVL7	37	CCDS33181.1																																																																																			HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325492.1		-	ENST00000233099.5	Silent	SNP	2 : 37268381 - 37268381 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	615	151
STOML2	30968	broad.mit.edu	37	9	35101137	35101137	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35101137G>A	ENST00000356493.5	-	7	781	c.719C>T	c.(718-720)gCa>gTa	p.A240V	STOML2_ENST00000452248.2_Missense_Mutation_p.A195V	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	240						cytoskeleton	receptor binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTGACCTGCTGCCTGATTTAT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	103	103			NA	NA	9		NA											NA				35101137		2203	4300	6503	SO:0001583	missense			AF190167	CCDS6577.1, CCDS69588.1, CCDS75830.1	9p13.1	2008-02-05			ENSG00000165283	ENSG00000165283	30968	30968			14559	protein-coding gene	gene with protein product		608292			NA	10713127, 17121834	Standard	NM_013442	NM_001287031	NA	Approved	SLP-2, HSPC108	uc003zwi.3	Q9UJZ1	OTTHUMG00000019851	ENST00000356493.5:c.719C>T	9.37:g.35101137G>A	ENSP00000348886:p.Ala240Val	NA	D3DRN3|O60376|Q53G29|Q96FY2|Q9P042	37	CCDS6577.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006908	0.93287	.	.	ENSG00000165283	ENST00000356493;ENST00000452248	D;D	0.99382	-4.06;-5.8	5.26	5.26	0.73747	.	0.051786	0.85682	D	0.000000	D	0.99645	0.9869	H	0.96333	3.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	D	0.97737	1.0206	10	0.87932	D	0	-0.1484	19.0555	0.93062	0.0:0.0:1.0:0.0	.	195;240	B4E1K7;Q9UJZ1	.;STML2_HUMAN	V	240;195	ENSP00000348886:A240V;ENSP00000395743:A195V	ENSP00000348886:A240V	A	-	2	0	STOML2	35091137	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.620000	0.98373	2.739000	0.93911	0.563000	0.77884	GCA	STOML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052273.1		-	ENST00000356493.5	Missense_Mutation	SNP	9 : 35101137 - 35101137 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	667	25
PKMYT1	9088	broad.mit.edu	37	16	3026775	3026775	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3026775C>A	ENST00000431515.2	-	3	653	c.268G>T	c.(268-270)Gag>Tag	p.E90*	PKMYT1_ENST00000262300.8_Nonsense_Mutation_p.E90*|PKMYT1_ENST00000574730.1_Nonsense_Mutation_p.E21*|PKMYT1_ENST00000440027.2_Nonsense_Mutation_p.E90*|PKMYT1_ENST00000573944.1_Nonsense_Mutation_p.E81*|PKMYT1_ENST00000574385.1_Nonsense_Mutation_p.E81*			Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	90					G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TGCAGAGTCTCTGAGGCCTCG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	11	11			NA	NA	16		NA											NA				3026775		2184	4297	6481	SO:0001587	stop_gained			AK097642	CCDS10486.1, CCDS45391.1, CCDS58414.1, CCDS58415.1	16p13.3	2014-06-13			ENSG00000127564	ENSG00000127564	9088	9088			29650	protein-coding gene	gene with protein product	membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase, protein phosphatase 1, regulatory subunit 126	602474			NA	9001210, 12606722	Standard	NM_004203	NM_004203	NA	Approved	MYT1, PPP1R126	uc002csn.3	Q99640	OTTHUMG00000128975	ENST00000431515.2:c.268G>T	16.37:g.3026775C>A	ENSP00000392855:p.Glu90*	NA	D3DUA4|O14731|Q7LE24|Q8TCM9	37		.	.	.	.	.	.	.	.	.	.	C	21.2	4.119419	0.77323	.	.	ENSG00000127564	ENST00000431515;ENST00000262300;ENST00000440027;ENST00000402679;ENST00000382240	.	.	.	5.78	4.83	0.62350	.	0.598474	0.18049	N	0.153369	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-8.655	12.6587	0.56801	0.0:0.92:0.0:0.08	.	.	.	.	X	90;90;90;90;81	.	ENSP00000262300:E90X	E	-	1	0	PKMYT1	2966776	0.035000	0.19736	0.176000	0.23000	0.070000	0.16714	1.081000	0.30791	1.436000	0.47453	-0.140000	0.14226	GAG	PKMYT1-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000436718.1		-	ENST00000431515.2	Nonsense_Mutation	SNP	16 : 3026775 - 3026775 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	84	25
FPR3	2359	broad.mit.edu	37	19	52327369	52327369	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52327369G>A	ENST00000339223.4	+	2	547	c.368G>A	c.(367-369)cGc>cAc	p.R123H	FPR3_ENST00000595991.1_Missense_Mutation_p.R123H	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	123					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						GCTCTGGACCGCTGTATTTGT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	77	82			NA	NA	19		NA											NA				52327369		2203	4300	6503	SO:0001583	missense				CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474	2359	2359		GPCR / Class A : Formyl peptide receptors	3828	protein-coding gene	gene with protein product		136539	formyl peptide receptor-like 2	FPRL2	NA	1612600, 8198572	Standard	NM_002030	NM_002030	NA	Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.368G>A	19.37:g.52327369G>A	ENSP00000341821:p.Arg123His	NA		37	CCDS12841.1	.	.	.	.	.	.	.	.	.	.	.	12.15	1.850699	0.32699	.	.	ENSG00000187474	ENST00000339223	D	0.97161	-4.27	2.34	2.34	0.29019	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	D	0.97297	0.9116	M	0.91406	3.205	0.32098	N	0.590994	B	0.30605	0.287	B	0.40228	0.323	D	0.99869	1.1094	10	0.56958	D	0.05	.	10.3497	0.43927	0.0:0.0:1.0:0.0	.	123	P25089	FPR3_HUMAN	H	123	ENSP00000341821:R123H	ENSP00000341821:R123H	R	+	2	0	FPR3	57019181	1.000000	0.71417	0.967000	0.41034	0.071000	0.16799	4.369000	0.59511	1.323000	0.45263	0.467000	0.42956	CGC	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466914.1		+	ENST00000339223.4	Missense_Mutation	SNP	19 : 52327369 - 52327369 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	431	44
NOP14	8602	broad.mit.edu	37	4	2964855	2964855	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2964855C>T	ENST00000314262.6	-	1	240	c.192G>A	c.(190-192)agG>agA	p.R64R	NOP14_ENST00000416614.2_Silent_p.R64R|NOP14_ENST00000502735.1_Silent_p.R64R|NOP14_ENST00000398071.4_Silent_p.R64R	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	64					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CGCTTACCTTCCTGAGGGCCC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	48	46			NA	NA	4		NA											NA				2964855		2202	4299	6501	SO:0001819	synonymous_variant			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269	8602	8602			16821	protein-coding gene	gene with protein product	NOP14 homolog (S. cerevisiae)	611526	chromosome 4 open reading frame 9, nucleolar protein 14, nucleolar protein 14 homolog (yeast), NOP14 nucleolar protein homolog (yeast)	C4orf9, NOL14	NA	9734812, 11694595	Standard	NM_003703	XR_241655	NA	Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.192G>A	4.37:g.2964855C>T		NA	D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	37	CCDS33945.1																																																																																			NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358135.2		-	ENST00000314262.6	Silent	SNP	4 : 2964855 - 2964855 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	386	78
MTNR1B	4544	broad.mit.edu	37	11	92702921	92702921	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92702921C>T	ENST00000257068.2	+	1	36	c.30C>T	c.(28-30)tgC>tgT	p.C10C		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	10					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	TCGCCAACTGCTGCGAGGCGG	0.741		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													7	8	8			NA	NA	11		NA											NA				92702921		1931	3852	5783	SO:0001819	synonymous_variant			AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640	4544	4544		GPCR / Class A : Melatonin receptors	7464	protein-coding gene	gene with protein product		600804			NA		Standard		NM_005959	NA	Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.30C>T	11.37:g.92702921C>T		NA		37	CCDS8290.1																																																																																			MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394323.1		+	ENST00000257068.2	Silent	SNP	11 : 92702921 - 92702921 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	174	35
TAS2R16	50833	broad.mit.edu	37	7	122635379	122635379	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122635379A>G	ENST00000249284.2	-	1	375	c.310T>C	c.(310-312)Tgc>Cgc	p.C104R		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	104					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACCTTGATGCAGTAGAACACG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	77	77			NA	NA	7		NA											NA				122635379		2203	4300	6503	SO:0001583	missense			AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519	50833	50833		Taste receptors / Type 2, GPCR / Unclassified : Taste receptors	14921	protein-coding gene	gene with protein product		604867			NA	10761934	Standard	NM_016945	NM_016945	NA	Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.310T>C	7.37:g.122635379A>G	ENSP00000249284:p.Cys104Arg	NA	A4D0X2|Q502V3|Q549U8|Q645W1	37	CCDS5785.1	.	.	.	.	.	.	.	.	.	.	A	12.81	2.049427	0.36181	.	.	ENSG00000128519	ENST00000249284	T	0.38077	1.16	4.33	4.33	0.51752	.	0.062957	0.64402	D	0.000007	T	0.62901	0.2466	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69213	-0.5204	10	0.87932	D	0	.	10.0659	0.42303	1.0:0.0:0.0:0.0	.	104	Q9NYV7	T2R16_HUMAN	R	104	ENSP00000249284:C104R	ENSP00000249284:C104R	C	-	1	0	TAS2R16	122422615	0.991000	0.36638	1.000000	0.80357	0.113000	0.19764	3.260000	0.51523	1.948000	0.56530	0.533000	0.62120	TGC	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347409.1		-	ENST00000249284.2	Missense_Mutation	SNP	7 : 122635379 - 122635379 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	298	46
BAZ2A	11176	broad.mit.edu	37	12	57005806	57005806	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57005806C>T	ENST00000549884.1	-	6	1448	c.1360G>A	c.(1360-1362)Gca>Aca	p.A454T	BAZ2A_ENST00000551812.1_Missense_Mutation_p.A456T|BAZ2A_ENST00000179765.5_Missense_Mutation_p.A424T|BAZ2A_ENST00000379441.3_Missense_Mutation_p.A426T			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	456					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	p.A456T(2)|p.A492T(1)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GTAGAAGCTGCGGGACAAACT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				3	Substitution - Missense(3)	endometrium(3)											67	72	70			NA	NA	12		NA											NA				57005806		1919	4149	6068	SO:0001583	missense			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108	11176	11176		Zinc fingers, PHD-type	962	protein-coding gene	gene with protein product	TTF-I interacting peptide 5	605682			NA	10662543, 11532953	Standard	NM_013449	XM_005268596	NA	Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000549884.1:c.1360G>A	12.37:g.57005806C>T	ENSP00000447941:p.Ala454Thr	NA	B3KN66|O00536|O15030|Q68DI8|Q96H26	37		.	.	.	.	.	.	.	.	.	.	C	7.414	0.635326	0.14322	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	3.85	2.97	0.34412	.	0.421480	0.19413	N	0.114887	T	0.33556	0.0867	N	0.08118	0	0.09310	N	1	P;B	0.34837	0.472;0.185	B;B	0.21151	0.033;0.019	T	0.11275	-1.0594	10	0.15066	T	0.55	.	5.0732	0.14617	0.2041:0.6891:0.0:0.1068	.	454;456	F8VU39;Q9UIF9	.;BAZ2A_HUMAN	T	426;424;456;454	ENSP00000368754:A426T;ENSP00000179765:A424T;ENSP00000446880:A456T;ENSP00000447941:A454T	ENSP00000179765:A424T	A	-	1	0	BAZ2A	55292073	0.997000	0.39634	0.980000	0.43619	0.018000	0.09664	1.540000	0.36115	1.239000	0.43787	-0.194000	0.12790	GCA	BAZ2A-003	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000408563.1		-	ENST00000549884.1	Missense_Mutation	SNP	12 : 57005806 - 57005806 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	135	21
C11orf84	144097	broad.mit.edu	37	11	63585407	63585407	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63585407C>T	ENST00000294244.4	+	2	557	c.258C>T	c.(256-258)agC>agT	p.S86S		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	86										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						CAGGAGGCAGCGGGCGGGCAC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	62	64			NA	NA	11		NA											NA				63585407		2201	4298	6499	SO:0001819	synonymous_variant			BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005	144097	144097			25115	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_138471	NM_138471	NA	Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.258C>T	11.37:g.63585407C>T		NA	Q68CV7|Q6PHS2|Q96IH0	37	CCDS31594.1																																																																																			C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396084.1		+	ENST00000294244.4	Silent	SNP	11 : 63585407 - 63585407 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	229	40
CACNA1B	774	broad.mit.edu	37	9	140952524	140952524	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140952524C>T	ENST00000371372.1	+	28	4275	c.4130C>T	c.(4129-4131)gCc>gTc	p.A1377V	CACNA1B_ENST00000371357.1_Missense_Mutation_p.A1378V|CACNA1B_ENST00000277549.5_Missense_Mutation_p.A573V|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A1378V|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A1377V|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A1377V	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1377					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCCGTGGATGCCACCTATGAG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	154	158			NA	NA	9		NA											NA				140952524		2020	4201	6221	SO:0001583	missense			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408	774	774		Calcium channel subunits, Voltage-gated ion channels / Calcium channels, EF-hand domain containing	1389	protein-coding gene	gene with protein product		601012		CACNL1A5	NA	8825650, 16382099	Standard	NM_000718	NM_000718	NA	Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.4130C>T	9.37:g.140952524C>T	ENSP00000360423:p.Ala1377Val	NA	B1AQK5	37	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199806	0.79015	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.97665	-4.48;-4.48;-4.48;-4.48;-4.48;-4.48	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.96861	0.8975	L	0.46819	1.47	0.80722	D	1	B;P;P	0.41498	0.255;0.752;0.752	B;P;P	0.51742	0.228;0.678;0.678	D	0.95465	0.8546	10	0.23302	T	0.38	.	19.4443	0.94840	0.0:1.0:0.0:0.0	.	1377;1378;1377	B1AQK4;B1AQK7;B1AQK6	.;.;.	V	1377;1377;573;1377;1378;1378	ENSP00000360423:A1377V;ENSP00000277551:A1377V;ENSP00000277549:A573V;ENSP00000360414:A1377V;ENSP00000360408:A1378V;ENSP00000360406:A1378V	ENSP00000277549:A573V	A	+	2	0	CACNA1B	140072345	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.708000	0.84633	2.682000	0.91365	0.555000	0.69702	GCC	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055380.1		+	ENST00000371372.1	Missense_Mutation	SNP	9 : 140952524 - 140952524 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	63
THBS2	7058	broad.mit.edu	37	6	169634946	169634946	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:169634946C>T	ENST00000366787.3	-	11	1783	c.1534G>A	c.(1534-1536)Ggt>Agt	p.G512S	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	512	TSP type-1 3.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CGGATCCCACCGGCACAGGTG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(91;219 1934 18562 44706)							NA				0													43	44	44			NA	NA	6		NA											NA				169634946		2202	4300	6502	SO:0001583	missense				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340	7058	7058			11786	protein-coding gene	gene with protein product		188061			NA	18455130	Standard	NM_003247	NM_003247	NA	Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.1534G>A	6.37:g.169634946C>T	ENSP00000355751:p.Gly512Ser	NA	A6H8N1|A7E232|Q5RI52	37	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201210	0.58234	.	.	ENSG00000186340	ENST00000366787	T	0.51071	0.72	4.38	4.38	0.52667	.	0.000000	0.40469	U	0.001090	T	0.38532	0.1044	M	0.71871	2.18	0.58432	D	0.999993	P	0.36378	0.55	B	0.35278	0.199	T	0.51888	-0.8648	10	0.59425	D	0.04	-25.311	17.2925	0.87160	0.0:1.0:0.0:0.0	.	512	P35442	TSP2_HUMAN	S	512	ENSP00000355751:G512S	ENSP00000355751:G512S	G	-	1	0	THBS2	169376871	1.000000	0.71417	0.079000	0.20413	0.269000	0.26545	5.587000	0.67510	2.150000	0.67090	0.590000	0.80494	GGT	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000105439.1		-	ENST00000366787.3	Missense_Mutation	SNP	6 : 169634946 - 169634946 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	436	87
CP	1356	broad.mit.edu	37	3	148895751	148895751	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148895751A>G	ENST00000264613.6	-	17	3156	c.2894T>C	c.(2893-2895)aTg>aCg	p.M965T		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	965	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GTTTCCAAACATTCTTCCATT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													189	163	172			NA	NA	3		NA											NA				148895751		2203	4300	6503	SO:0001583	missense			M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1356	1356	1.16.3.1		2295	protein-coding gene	gene with protein product		117700			NA		Standard	NM_000096	NM_000096	NA	Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.2894T>C	3.37:g.148895751A>G	ENSP00000264613:p.Met965Thr	NA	Q14063|Q2PP18|Q9UKS4	37	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.137328	0.56936	.	.	ENSG00000047457	ENST00000479771;ENST00000264613;ENST00000494544	D;D;D	0.99784	-6.74;-6.74;-6.74	5.78	5.78	0.91487	Cupredoxin (2);Multicopper oxidase, type 2 (1);	0.236543	0.51477	D	0.000095	D	0.98839	0.9608	N	0.16201	0.385	0.51012	D	0.999904	B;P;B;B	0.39404	0.074;0.672;0.158;0.137	B;P;B;B	0.45474	0.096;0.482;0.135;0.276	D	0.99958	1.1678	10	0.33940	T	0.23	-8.8801	16.1149	0.81301	1.0:0.0:0.0:0.0	.	965;965;965;678	A8K5A4;P00450;Q1L857;B3KTA8	.;CERU_HUMAN;.;.	T	100;965;748	ENSP00000420367:M100T;ENSP00000264613:M965T;ENSP00000420545:M748T	ENSP00000264613:M965T	M	-	2	0	CP	150378441	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.317000	0.96327	2.205000	0.71048	0.455000	0.32223	ATG	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317498.1		-	ENST00000264613.6	Missense_Mutation	SNP	3 : 148895751 - 148895751 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	558	104
ABCF1	23	broad.mit.edu	37	6	30546253	30546253	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30546253A>T	ENST00000326195.8	+	6	500	c.388A>T	c.(388-390)Aat>Tat	p.N130Y	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.N130Y	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	130					inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CTAGGGTGGTAATGTTTTTGC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	85	90			NA	NA	6		NA											NA				30546253		2203	4300	6503	SO:0001583	missense			AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574	23	23		ATP binding cassette transporters / subfamily F	70	protein-coding gene	gene with protein product		603429		ABC50	NA	9790762	Standard		NM_001025091	NA	Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.388A>T	6.37:g.30546253A>T	ENSP00000313603:p.Asn130Tyr	NA	O14897|Q69YP6	37	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.298034	0.81025	.	.	ENSG00000204574	ENST00000326195;ENST00000376545;ENST00000455943;ENST00000441867;ENST00000468958	T;T;T;T	0.68765	1.53;0.54;0.62;-0.35	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.72993	0.3530	M	0.63843	1.955	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.998;0.998;0.998	T	0.77400	-0.2602	10	0.87932	D	0	-28.44	11.675	0.51424	1.0:0.0:0.0:0.0	.	130;130;130	Q2L6I2;Q8NE71;A2BF75	.;ABCF1_HUMAN;.	Y	130;130;131;131;33	ENSP00000313603:N130Y;ENSP00000365728:N130Y;ENSP00000405512:N131Y;ENSP00000440893:N33Y	ENSP00000313603:N130Y	N	+	1	0	ABCF1	30654232	1.000000	0.71417	0.962000	0.40283	0.981000	0.71138	7.007000	0.76335	2.084000	0.62774	0.460000	0.39030	AAT	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076137.3		+	ENST00000326195.8	Missense_Mutation	SNP	6 : 30546253 - 30546253 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	213	44
SF3B2	10992	broad.mit.edu	37	11	65829183	65829183	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65829183G>T	ENST00000528302.1	+	14	1809	c.1755G>T	c.(1753-1755)aaG>aaT	p.K585N	SF3B2_ENST00000322535.6_Missense_Mutation_p.K602N			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	602					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CACGACTGAAGGAGAAGAAGC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	129	130			NA	NA	11		NA											NA				65829183		2201	4295	6496	SO:0001583	missense			U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365	10992	10992			10769	protein-coding gene	gene with protein product		605591	splicing factor 3b, subunit 2, 145kD		NA	8566756	Standard		XM_005273726	NA	Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000528302.1:c.1755G>T	11.37:g.65829183G>T	ENSP00000432655:p.Lys585Asn	NA	A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.5|22.5	4.295452|4.295452	0.81025|0.81025	.|.	.|.	ENSG00000087365|ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000355456|ENST00000530981	.|.	.|.	.|.	5.65|5.65	4.74|4.74	0.60224|0.60224	PSP, proline-rich (1);|.	0.093473|.	0.64402|.	D|.	0.000001|.	T|T	0.76385|0.76385	0.3980|0.3980	M|M	0.84511|0.84511	2.7|2.7	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.71656|.	0.974|.	T|T	0.78588|0.78588	-0.2146|-0.2146	9|5	0.87932|.	D|.	0|.	-34.11|-34.11	12.2431|12.2431	0.54555|0.54555	0.0821:0.0:0.9179:0.0|0.0821:0.0:0.9179:0.0	.|.	602|.	Q13435|.	SF3B2_HUMAN|.	N|M	585;602;506|23	.|.	ENSP00000318861:K602N|.	K|R	+|+	3|2	2|0	SF3B2|SF3B2	65585759|65585759	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.361000|3.361000	0.52306|0.52306	1.393000|1.393000	0.46605|0.46605	0.557000|0.557000	0.71058|0.71058	AAG|AGG	SF3B2-006	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000391351.1		+	ENST00000528302.1	Missense_Mutation	SNP	11 : 65829183 - 65829183 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	20
FBN2	2201	broad.mit.edu	37	5	127705025	127705025	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127705025T>C	ENST00000508053.1	-	22	3072	c.2098A>G	c.(2098-2100)Act>Gct	p.T700A	FBN2_ENST00000262464.4_Missense_Mutation_p.T700A|FBN2_ENST00000511489.1_5'UTR|FBN2_ENST00000508989.1_Missense_Mutation_p.T667A			P35556	FBN2_HUMAN	fibrillin 2	700					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CGCATGTGAGTATCTAAAGGA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	90	99			NA	NA	5		NA											NA				127705025		2203	4300	6503	SO:0001583	missense			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829	2201	2201			3604	protein-coding gene	gene with protein product	fibrillin 5	612570	congenital contractural arachnodactyly	CCA	NA	1852206, 8120105	Standard	NM_001999	NM_001999	NA	Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2098A>G	5.37:g.127705025T>C	ENSP00000424571:p.Thr700Ala	NA	B4DU01|Q59ES6	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	T	19.04	3.748941	0.69533	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.92647	-3.08;-3.08;-2.72	4.35	4.35	0.52113	Matrix fibril-associated (2);	0.000000	0.64402	D	0.000003	D	0.94159	0.8126	L	0.54323	1.7	0.58432	D	0.999999	D;D	0.76494	0.999;0.984	D;D	0.70487	0.969;0.956	D	0.93537	0.6874	10	0.40728	T	0.16	.	14.5886	0.68347	0.0:0.0:0.0:1.0	.	667;700	D6RJI3;P35556	.;FBN2_HUMAN	A	700;700;667	ENSP00000262464:T700A;ENSP00000424571:T700A;ENSP00000425596:T667A	ENSP00000262464:T700A	T	-	1	0	FBN2	127732924	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	7.825000	0.86693	2.186000	0.69663	0.533000	0.62120	ACT	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000371618.2		-	ENST00000508053.1	Missense_Mutation	SNP	5 : 127705025 - 127705025 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	204	41
TSTD2	158427	broad.mit.edu	37	9	100365039	100365039	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100365039G>T	ENST00000341170.4	-	10	1645	c.1263C>A	c.(1261-1263)taC>taA	p.Y421*		NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	421										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						GGGCTCCACAGTATGAACACT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	56	56			NA	NA	9		NA											NA				100365039		2203	4300	6503	SO:0001587	stop_gained			AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925	158427	158427			30087	protein-coding gene	gene with protein product			chromosome 9 open reading frame 97	C9orf97	NA	12477932	Standard	NM_139246	NM_139246	NA	Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.1263C>A	9.37:g.100365039G>T	ENSP00000342499:p.Tyr421*	NA	A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	37	CCDS6727.2	.	.	.	.	.	.	.	.	.	.	G	44	11.259084	0.99538	.	.	ENSG00000136925	ENST00000375173;ENST00000375172;ENST00000341170	.	.	.	5.75	3.86	0.44501	.	0.060741	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.2467	13.5115	0.61515	0.1371:0.0:0.8629:0.0	.	.	.	.	X	17;195;421	.	ENSP00000342499:Y421X	Y	-	3	2	TSTD2	99404860	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	3.157000	0.50716	1.550000	0.49438	0.655000	0.94253	TAC	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053325.4		-	ENST00000341170.4	Nonsense_Mutation	SNP	9 : 100365039 - 100365039 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	334	69
GPRASP1	9737	broad.mit.edu	37	X	101912585	101912585	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101912585C>T	ENST00000361600.5	+	5	4545	c.3744C>T	c.(3742-3744)agC>agT	p.S1248S	GPRASP1_ENST00000415986.1_Silent_p.S1248S|GPRASP1_ENST00000537097.1_Silent_p.S1248S|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Silent_p.S1248S	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1248	OPRD1-binding.					cytoplasm	protein binding	p.S1248_D1250delSVD(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTGCTTATAGCGTGGATTCCC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Deletion - In frame(1)	prostate(1)											98	86	90			NA	NA	X		NA											NA				101912585		2203	4300	6503	SO:0001819	synonymous_variant			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932	9737	9737		Armadillo repeat containing	24834	protein-coding gene	gene with protein product		300417			NA	9455477, 15086532, 16221301	Standard	NM_014710	NM_014710	NA	Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3744C>T	X.37:g.101912585C>T		NA	O43168|Q96LA1	37	CCDS35352.1																																																																																			GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057634.2		+	ENST00000361600.5	Silent	SNP	X : 101912585 - 101912585 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	509	17
ATP6V0A2	23545	broad.mit.edu	37	12	124221607	124221607	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124221607T>C	ENST00000330342.3	+	9	1075	c.827T>C	c.(826-828)gTa>gCa	p.V276A		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	276					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		CTTCCCCAGGTACTGCACAAA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	96	103			NA	NA	12		NA											NA				124221607		2203	4300	6503	SO:0001630	splice_region_variant			AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344	23545	23545		ATPases / V-type	18481	protein-coding gene	gene with protein product	infantile malignant osteopetrosis	611716	infantile malignant osteopetrosis, ATPase, H+ transporting, lysosomal V0 subunit a isoform 2, ATPase, H+ transporting, lysosomal V0 subunit A2		NA	2247090, 18157129	Standard	NM_012463	NM_012463	NA	Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.826-1T>C	12.37:g.124221607T>C		NA	A8K026|Q6NUM0	37	CCDS9254.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.955480	0.73902	.	.	ENSG00000185344	ENST00000330342;ENST00000541854;ENST00000504192	D;D	0.87029	-2.2;-2.2	5.68	4.5	0.54988	.	0.104725	0.64402	D	0.000004	D	0.92476	0.7611	M	0.74546	2.27	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.80764	0.986;0.994	D	0.92626	0.6112	10	0.87932	D	0	-33.8503	12.8333	0.57759	0.0:0.0:0.1364:0.8636	.	276;276	Q9Y487;Q8TBM3	VPP2_HUMAN;.	A	276;276;146	ENSP00000332247:V276A;ENSP00000443441:V146A	ENSP00000332247:V276A	V	+	2	0	ATP6V0A2	122787560	1.000000	0.71417	0.985000	0.45067	0.393000	0.30537	8.023000	0.88764	0.945000	0.37605	0.482000	0.46254	GTA	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400765.2	Missense_Mutation	+	ENST00000330342.3	Splice_Site	SNP	12 : 124221607 - 124221607 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	463	94
SCUBE1	80274	broad.mit.edu	37	22	43687179	43687179	+	Silent	SNP	G	G	A	rs148070276		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43687179G>A	ENST00000360835.4	-	4	483	c.357C>T	c.(355-357)gaC>gaT	p.D119D	SCUBE1_ENST00000290460.7_Silent_p.D119D	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	NA	EGF-like 3; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CCTGACACTCGTCCACATCTG	0.542		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	88	62	71		357	-9.3	0.2	22	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SCUBE1	NM_173050.3		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		119/989	43687179	1,13005	2203	4300	6503	SO:0001819	synonymous_variant				CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307	80274	80274			13441	protein-coding gene	gene with protein product		611746			NA	11087664	Standard	NM_173050	NM_173050	NA	Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.357C>T	22.37:g.43687179G>A		NA	Q5R336	37	CCDS14048.1																																																																																			SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319582.3		-	ENST00000360835.4	Silent	SNP	22 : 43687179 - 43687179 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	218	45
HTR3C	170572	broad.mit.edu	37	3	183777407	183777407	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183777407G>A	ENST00000318351.1	+	7	938	c.904G>A	c.(904-906)Gcc>Acc	p.A302T		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	302						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CTTGCTCCCTGCCAGTGGCAC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	136	141			NA	NA	3		NA											NA				183777407		2203	4300	6503	SO:0001583	missense			AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084	170572	170572		5-HT (serotonin) receptors, Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic	24003	protein-coding gene	gene with protein product		610121	5-hydroxytryptamine (serotonin) receptor 3, family member C		NA	12801637, 15157181	Standard	NM_130770	NM_130770	NA	Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.904G>A	3.37:g.183777407G>A	ENSP00000322617:p.Ala302Thr	NA	A2RRR5	37	CCDS3250.1	.	.	.	.	.	.	.	.	.	.	.	3.979	-0.006760	0.07773	.	.	ENSG00000178084	ENST00000318351	D	0.81908	-1.55	4.09	1.1	0.20463	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.741044	0.12903	N	0.429618	T	0.79458	0.4449	M	0.71581	2.175	0.09310	N	1	B	0.14805	0.011	B	0.29267	0.1	T	0.63857	-0.6542	10	0.22109	T	0.4	.	6.2804	0.21003	0.0929:0.0:0.5624:0.3447	.	302	Q8WXA8	5HT3C_HUMAN	T	302	ENSP00000322617:A302T	ENSP00000322617:A302T	A	+	1	0	HTR3C	185260101	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.477000	0.22196	0.013000	0.14918	-0.274000	0.10170	GCC	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346296.1		+	ENST00000318351.1	Missense_Mutation	SNP	3 : 183777407 - 183777407 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	991	203
MUC16	94025	broad.mit.edu	37	19	9015664	9015664	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9015664C>T	ENST00000397910.4	-	29	38362	c.38159G>A	c.(38158-38160)gGc>gAc	p.G12720D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12722	SEA 5.			H -> C (in Ref. 3; AAK74120).	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						CTTCCTGGAGCCAGGGCAATG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													191	170	177			NA	NA	19		NA											NA				9015664		2009	4165	6174	SO:0001583	missense			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.38159G>A	19.37:g.9015664C>T	ENSP00000381008:p.Gly12720Asp	NA	Q6ZQW5|Q96RK2	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	11.83	1.754823	0.31046	.	.	ENSG00000181143	ENST00000397910	T	0.62941	-0.01	3.44	2.36	0.29203	.	.	.	.	.	T	0.74458	0.3719	M	0.73430	2.235	.	.	.	D	0.76494	0.999	D	0.91635	0.999	T	0.78947	-0.2003	8	0.87932	D	0	.	7.2608	0.26201	0.0:0.8579:0.0:0.1421	.	12720	B5ME49	.	D	12720	ENSP00000381008:G12720D	ENSP00000381008:G12720D	G	-	2	0	MUC16	8876664	0.000000	0.05858	0.016000	0.15963	0.103000	0.19146	0.069000	0.14552	1.616000	0.50265	0.305000	0.20034	GGC	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Missense_Mutation	SNP	19 : 9015664 - 9015664 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	603	123
THADA	63892	broad.mit.edu	37	2	43814082	43814082	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43814082C>T	ENST00000403856.1	-	6	509	c.362G>A	c.(361-363)cGt>cAt	p.R121H	THADA_ENST00000404790.1_Missense_Mutation_p.R121H|THADA_ENST00000415080.2_5'UTR|THADA_ENST00000405975.2_Missense_Mutation_p.R121H|THADA_ENST00000402360.2_Missense_Mutation_p.R121H|THADA_ENST00000405006.4_Missense_Mutation_p.R121H			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	121							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TTCCTGAAGACGAGAAGTAAA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	59	60			NA	NA	2		NA											NA				43814082		1818	4061	5879	SO:0001583	missense			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970	63892	63892			19217	protein-coding gene	gene with protein product		611800			NA	12063398, 11214970	Standard	NM_022065	NM_022065	NA	Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000403856.1:c.362G>A	2.37:g.43814082C>T	ENSP00000385469:p.Arg121His	NA	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	37		.	.	.	.	.	.	.	.	.	.	C	13.00	2.107737	0.37242	.	.	ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T	0.64803	2.95;2.95;-0.12;-0.12;1.5	4.62	3.68	0.42216	.	0.172595	0.50627	N	0.000101	T	0.44644	0.1303	N	0.22421	0.69	0.80722	D	1	B;B;B;B	0.15473	0.013;0.003;0.002;0.003	B;B;B;B	0.08055	0.003;0.001;0.001;0.001	T	0.31081	-0.9956	10	0.34782	T	0.22	-7.7899	9.4071	0.38469	0.0:0.8861:0.0:0.1139	.	121;121;121;121	B5MC89;Q8IY32;Q6YHU6-5;Q6YHU6	.;.;.;THADA_HUMAN	H	121	ENSP00000386088:R121H;ENSP00000385995:R121H;ENSP00000385441:R121H;ENSP00000384266:R121H;ENSP00000385469:R121H	ENSP00000349464:R121H	R	-	2	0	THADA	43667586	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.857000	0.39399	1.164000	0.42652	0.655000	0.94253	CGT	THADA-005	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000326073.1		-	ENST00000403856.1	Missense_Mutation	SNP	2 : 43814082 - 43814082 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	190	23
EPS8L2	64787	broad.mit.edu	37	11	725803	725803	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:725803C>A	ENST00000533256.1	+	18	2011	c.1636C>A	c.(1636-1638)Cta>Ata	p.L546I	EPS8L2_ENST00000526198.1_Missense_Mutation_p.L562I|EPS8L2_ENST00000318562.8_Missense_Mutation_p.L546I|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000530636.1_Missense_Mutation_p.L546I			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	546	SH3.					cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGCAACATCCTAGGCGAGGC	0.766		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													5	7	7			NA	NA	11		NA											NA				725803		1840	3856	5696	SO:0001583	missense			AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106	64787	64787			21296	protein-coding gene	gene with protein product		614988			NA	12620401	Standard	NM_022772	NM_022772	NA	Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.1636C>A	11.37:g.725803C>A	ENSP00000435585:p.Leu546Ile	NA	B3KSX1|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	37	CCDS31328.1	.	.	.	.	.	.	.	.	.	.	c	15.75	2.927052	0.52759	.	.	ENSG00000177106	ENST00000318562;ENST00000533256;ENST00000530636;ENST00000526198	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	3.19	2.27	0.28462	Src homology-3 domain (3);	0.118681	0.35555	N	0.003132	T	0.42517	0.1206	L	0.46885	1.475	0.40983	D	0.984797	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.31641	-0.9936	10	0.72032	D	0.01	-20.6528	6.846	0.23988	0.0:0.7603:0.0:0.2397	.	562;546	B7ZKL3;Q9H6S3	.;ES8L2_HUMAN	I	546;546;546;562	ENSP00000320828:L546I;ENSP00000435585:L546I;ENSP00000436035:L546I;ENSP00000436230:L562I	ENSP00000320828:L546I	L	+	1	2	EPS8L2	715803	1.000000	0.71417	0.988000	0.46212	0.184000	0.23303	1.194000	0.32174	0.688000	0.31529	0.457000	0.33378	CTA	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382344.1		+	ENST00000533256.1	Missense_Mutation	SNP	11 : 725803 - 725803 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	79	18
WDR43	23160	broad.mit.edu	37	2	29135533	29135533	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29135533G>A	ENST00000407426.3	+	4	619	c.563G>A	c.(562-564)cGa>cAa	p.R188Q		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	188						nucleolus				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					TCAGCTGGTCGAACAATCAAA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	112	114			NA	NA	2		NA											NA				29135533		1849	4096	5945	SO:0001583	missense			D87716	CCDS46251.1	2p23.3	2013-01-09			ENSG00000163811	ENSG00000163811	23160	23160		WD repeat domain containing	28945	protein-coding gene	gene with protein product	UTP5, small subunit (SSU) processome component, homolog (yeast)				NA	7584026, 7584028, 17699751	Standard	XM_087089	NM_015131	NA	Approved	KIAA0007, NET12, UTP5	uc002rmo.2	Q15061	OTTHUMG00000152015	ENST00000407426.3:c.563G>A	2.37:g.29135533G>A	ENSP00000384302:p.Arg188Gln	NA	Q15395|Q92577	37	CCDS46251.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784285	0.90282	.	.	ENSG00000163811	ENST00000407426;ENST00000440983;ENST00000296126	T;T;T	0.70869	-0.01;-0.01;-0.52	5.81	5.81	0.92471	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.256459	0.37348	N	0.002124	T	0.72914	0.3520	L	0.43923	1.385	0.43559	D	0.995872	D	0.60160	0.987	P	0.49597	0.616	T	0.71784	-0.4488	10	0.41790	T	0.15	-7.3855	20.0896	0.97814	0.0:0.0:1.0:0.0	.	188	Q15061	WDR43_HUMAN	Q	188;99;7	ENSP00000384302:R188Q;ENSP00000415355:R99Q;ENSP00000296126:R7Q	ENSP00000296126:R7Q	R	+	2	0	WDR43	28989037	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.796000	0.69080	2.741000	0.93983	0.650000	0.86243	CGA	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324865.1		+	ENST00000407426.3	Missense_Mutation	SNP	2 : 29135533 - 29135533 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	384	103
COL5A2	1290	broad.mit.edu	37	2	189914108	189914108	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189914108C>T	ENST00000374866.3	-	44	3386	c.3112G>A	c.(3112-3114)Ggc>Agc	p.G1038S		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1038					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCATTGGAGCCTGGGGGCCCC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	54	55			NA	NA	2		NA											NA				189914108		2202	4300	6502	SO:0001583	missense			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262	1290	1290		Collagens	2210	protein-coding gene	gene with protein product	AB collagen	120190			NA	1572660	Standard	NM_000393	NM_000393	NA	Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.3112G>A	2.37:g.189914108C>T	ENSP00000364000:p.Gly1038Ser	NA	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	37	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.505796	0.85282	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.99607	-6.27	5.6	5.6	0.85130	.	0.000000	0.56097	D	0.000040	D	0.99829	0.9923	H	0.98089	4.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.97011	0.9736	9	.	.	.	.	19.8749	0.96865	0.0:1.0:0.0:0.0	.	678;1038	Q5PR22;P05997	.;CO5A2_HUMAN	S	1038;678	ENSP00000364000:G1038S	.	G	-	1	0	COL5A2	189622353	1.000000	0.71417	0.738000	0.30950	0.718000	0.41266	7.376000	0.79658	2.932000	0.99384	0.644000	0.83932	GGC	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313523.1		-	ENST00000374866.3	Missense_Mutation	SNP	2 : 189914108 - 189914108 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	140	32
SBK2	646643	broad.mit.edu	37	19	56042645	56042645	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56042645G>A	ENST00000413299.1	-	3	358	c.321C>T	c.(319-321)ttC>ttT	p.F107F	SBK2_ENST00000344158.3_Silent_p.F107F	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	107	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCCCCACACAGAACTCGTACA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	44	42			NA	NA	19		NA											NA				56042645		2129	4239	6368	SO:0001819	synonymous_variant				CCDS42631.1	19q13.42	2013-09-27	2013-09-27		ENSG00000187550	ENSG00000187550	646643	646643			34416	protein-coding gene	gene with protein product			SH3-binding domain kinase family, member 2		NA		Standard	NM_001101401	NM_001101401	NA	Approved	SGK069	uc010ygc.2	P0C263	OTTHUMG00000155830	ENST00000413299.1:c.321C>T	19.37:g.56042645G>A		NA		37	CCDS42631.1																																																																																			SBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341919.1		-	ENST00000413299.1	Silent	SNP	19 : 56042645 - 56042645 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	167	12
PRSS12	8492	broad.mit.edu	37	4	119203366	119203366	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119203366C>A	ENST00000296498.3	-	13	2635	c.2353G>T	c.(2353-2355)Gcc>Tcc	p.A785S		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	785	Peptidase S1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						AAGGGAATGGCTGCTTGTTGT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	129	130			NA	NA	4		NA											NA				119203366		2203	4300	6503	SO:0001583	missense			AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099	8492	8492		Serine peptidases / Serine peptidases	9477	protein-coding gene	gene with protein product		606709			NA	9540828, 9245503	Standard		NM_003619	NA	Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.2353G>T	4.37:g.119203366C>A	ENSP00000296498:p.Ala785Ser	NA	Q9UP16	37	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361803	0.24684	.	.	ENSG00000164099	ENST00000296498	D	0.88277	-2.36	6.08	5.24	0.73138	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.254753	0.44902	D	0.000414	T	0.69940	0.3167	N	0.01515	-0.825	0.35163	D	0.770848	P	0.36354	0.549	B	0.33295	0.161	T	0.76022	-0.3111	10	0.06757	T	0.87	.	15.609	0.76699	0.0:0.9342:0.0:0.0658	.	785	P56730	NETR_HUMAN	S	785	ENSP00000296498:A785S	ENSP00000296498:A785S	A	-	1	0	PRSS12	119422814	0.936000	0.31750	1.000000	0.80357	0.991000	0.79684	1.336000	0.33850	1.586000	0.49944	0.591000	0.81541	GCC	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256516.2		-	ENST00000296498.3	Missense_Mutation	SNP	4 : 119203366 - 119203366 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	571	98
LONP2	83752	broad.mit.edu	37	16	48382140	48382140	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48382140G>A	ENST00000285737.4	+	14	2369	c.2276G>A	c.(2275-2277)cGg>cAg	p.R759Q	LONP2_ENST00000564259.1_3'UTR|LONP2_ENST00000535754.1_Missense_Mutation_p.R715Q	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	759					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTTAGTGGGCGGCTGGTACGT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	140	140			NA	NA	16		NA											NA				48382140		2200	4300	6500	SO:0001583	missense			AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910	83752	83752		ATPases / AAA-type	20598	protein-coding gene	gene with protein product					NA	14561759	Standard	NM_031490	XM_005256191	NA	Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.2276G>A	16.37:g.48382140G>A	ENSP00000285737:p.Arg759Gln	NA	Q0D2H6|Q8N3B9|Q8NCE9|Q96K43	37	CCDS10734.1	.	.	.	.	.	.	.	.	.	.	G	36	5.648787	0.96714	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754	T;T	0.30714	1.52;1.52	6.17	6.17	0.99709	Ribosomal protein S5 domain 2-type fold (1);Peptidase S16, Lon C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.38532	0.1044	L	0.60845	1.875	0.80722	D	1	P;P	0.49090	0.919;0.919	P;P	0.44447	0.45;0.45	T	0.02829	-1.1105	10	0.25751	T	0.34	-23.1121	20.8794	0.99867	0.0:0.0:1.0:0.0	.	715;759	B7ZKL7;Q86WA8	.;LONP2_HUMAN	Q	759;488;715	ENSP00000285737:R759Q;ENSP00000445426:R715Q	ENSP00000285737:R759Q	R	+	2	0	LONP2	46939641	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.933000	0.87642	2.941000	0.99782	0.655000	0.94253	CGG	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256839.2		+	ENST00000285737.4	Missense_Mutation	SNP	16 : 48382140 - 48382140 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	955	167
MEIS2	4212	broad.mit.edu	37	15	37390266	37390266	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:37390266C>T	ENST00000338564.5	-	3	593	c.147G>A	c.(145-147)caG>caA	p.Q49Q	MEIS2_ENST00000382766.2_Silent_p.Q49Q|MEIS2_ENST00000397624.3_5'UTR|MEIS2_ENST00000559085.1_Silent_p.Q36Q|MEIS2_ENST00000557796.2_Silent_p.Q36Q|MEIS2_ENST00000219869.9_5'UTR|MEIS2_ENST00000424352.2_Silent_p.Q49Q|MEIS2_ENST00000444725.1_Silent_p.Q49Q|MEIS2_ENST00000340545.5_Silent_p.Q36Q|MEIS2_ENST00000561208.1_Silent_p.Q49Q|MEIS2_ENST00000397620.2_5'UTR|MEIS2_ENST00000559561.1_Silent_p.Q49Q	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	49					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		CGCCGTAGTGCTGTGTGGCGT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	56	55			NA	NA	15		NA											NA				37390266		2200	4296	6496	SO:0001819	synonymous_variant			AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138	4212	4212		Homeoboxes / TALE class	7001	protein-coding gene	gene with protein product		601740	Meis (mouse) homolog 2, Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)		NA	9383298	Standard	NM_170677	NM_172315	NA	Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000338564.5:c.147G>A	15.37:g.37390266C>T		NA	Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	37	CCDS10045.1																																																																																			MEIS2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252004.2		-	ENST00000338564.5	Silent	SNP	15 : 37390266 - 37390266 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	551	102
FAU	2197	broad.mit.edu	37	11	64889267	64889267	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64889267C>T	ENST00000529259.1	-	1	120	c.19G>A	c.(19-21)Gcc>Acc	p.A7T	FAU_ENST00000525297.1_Missense_Mutation_p.A7T|FAU_ENST00000527548.1_Missense_Mutation_p.A7T|FAU_ENST00000434372.2_Missense_Mutation_p.A7T|FAU_ENST00000529639.1_Missense_Mutation_p.A7T|FAU_ENST00000279259.3_Missense_Mutation_p.A7T|FAU_ENST00000531743.1_Missense_Mutation_p.A7T			P35544	UBIM_HUMAN	Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed	7										NS(3)|kidney(1)|large_intestine(2)	6						AGCTCCTGGGCGCGGACAAAG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	65	68			NA	NA	11		NA											NA				64889267		2201	4297	6498	SO:0001583	missense			AK026639	CCDS8095.1	11q13	2011-04-06	2007-07-19			ENSG00000149806	2197	2197		S ribosomal proteins	3597	protein-coding gene	gene with protein product	ribosomal protein S30, Monoclonal nonspecific suppressor factor beta	134690	Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed (fox derived)		NA	8406491	Standard	NM_001997	NM_001997	NA	Approved	RPS30, FLJ22986, Fub1, Fubi, MNSFbeta, asr1, S30	uc001ocx.3	P35544		ENST00000529259.1:c.19G>A	11.37:g.64889267C>T	ENSP00000434680:p.Ala7Thr	NA	Q9H5V4	37		.	.	.	.	.	.	.	.	.	.	C	22.4	4.282241	0.80692	.	.	ENSG00000149806	ENST00000529639;ENST00000531743;ENST00000525297;ENST00000527548;ENST00000279259;ENST00000529259;ENST00000526555;ENST00000434372	T;T;T;T;T;T;T;T	0.54071	1.16;1.16;0.59;1.16;1.16;1.16;1.16;1.16	5.92	5.92	0.95590	Ubiquitin supergroup (1);Ubiquitin (1);	0.049252	0.85682	D	0.000000	T	0.38241	0.1033	L	0.28649	0.875	0.80722	D	1	B;P	0.36183	0.025;0.542	B;B	0.33568	0.055;0.166	T	0.30001	-0.9993	10	0.02654	T	1	-0.9377	17.8282	0.88672	0.0:1.0:0.0:0.0	.	7;7	E9PMS9;P35544	.;UBIM_HUMAN	T	7	ENSP00000435370:A7T;ENSP00000431822:A7T;ENSP00000436110:A7T;ENSP00000434440:A7T;ENSP00000279259:A7T;ENSP00000434680:A7T;ENSP00000433139:A7T;ENSP00000413848:A7T	ENSP00000279259:A7T	A	-	1	0	FAU	64645843	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	5.739000	0.68622	2.822000	0.97130	0.650000	0.86243	GCC	FAU-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000385269.1		-	ENST00000529259.1	Missense_Mutation	SNP	11 : 64889267 - 64889267 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	277	42
PRUNE2	158471	broad.mit.edu	37	9	79319009	79319009	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79319009C>T	ENST00000376718.3	-	9	7643	c.7520G>A	c.(7519-7521)aGc>aAc	p.S2507N	PRUNE2_ENST00000428286.1_Missense_Mutation_p.S2148N	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2507					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TATTTCCTTGCTGGCACCTAG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	90	93			NA	NA	9		NA											NA				79319009		1568	3581	5149	SO:0001583	missense			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772	158471	158471			25209	protein-coding gene	gene with protein product	olfaxin	610691	chromosome 9 open reading frame 65, KIAA0367	C9orf65, KIAA0367	NA	16288218	Standard	NM_138818	NM_015225	NA	Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.7520G>A	9.37:g.79319009C>T	ENSP00000365908:p.Ser2507Asn	NA	B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	37	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.278327	0.23307	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.45668	0.89;0.89	5.76	-2.51	0.06365	.	1.083170	0.06998	N	0.822869	T	0.32734	0.0839	L	0.47716	1.5	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.38200	-0.9672	10	0.48119	T	0.1	-0.0214	6.4439	0.21865	0.1272:0.3784:0.0:0.4944	.	2507	Q8WUY3	PRUN2_HUMAN	N	2507;2148;2506	ENSP00000365908:S2507N;ENSP00000397425:S2148N	ENSP00000365908:S2507N	S	-	2	0	PRUNE2	78508829	0.000000	0.05858	0.000000	0.03702	0.829000	0.46940	-0.479000	0.06567	-0.144000	0.11314	0.655000	0.94253	AGC	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052730.2		-	ENST00000376718.3	Missense_Mutation	SNP	9 : 79319009 - 79319009 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	463	79
DECR2	26063	broad.mit.edu	37	16	461408	461408	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:461408C>T	ENST00000219481.5	+	8	847	c.709C>T	c.(709-711)Cag>Tag	p.Q237*	DECR2_ENST00000424398.2_Nonsense_Mutation_p.Q225*|DECR2_ENST00000461947.1_Intron	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	237						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				CAGCCCGCTGCAGAGGCTGGG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	51	50			NA	NA	16		NA											NA				461408		2202	4299	6501	SO:0001587	stop_gained			AJ293009	CCDS10409.1	16p13.3	2011-09-14			ENSG00000242612	ENSG00000242612	26063	26063	1.3.1.34	Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1	2754	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 17C, member 1	615839			NA	11514237, 19027726	Standard	NM_020664	NM_020664	NA	Approved	PDCR, SDR17C1	uc002chb.3	Q9NUI1	OTTHUMG00000047846	ENST00000219481.5:c.709C>T	16.37:g.461408C>T	ENSP00000219481:p.Gln237*	NA	Q6ZRS7|Q96ET0	37	CCDS10409.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244166	0.59103	.	.	ENSG00000242612	ENST00000219481;ENST00000424398	.	.	.	5.33	4.35	0.52113	.	0.272166	0.43260	D	0.000583	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	14.0866	0.64962	0.1518:0.8482:0.0:0.0	.	.	.	.	X	237;225	.	ENSP00000219481:Q237X	Q	+	1	0	DECR2	401409	1.000000	0.71417	0.997000	0.53966	0.582000	0.36321	3.819000	0.55686	1.195000	0.43115	0.555000	0.69702	CAG	DECR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109069.4		+	ENST00000219481.5	Nonsense_Mutation	SNP	16 : 461408 - 461408 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	425	81
UBR7	55148	broad.mit.edu	37	14	93678410	93678410	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93678410C>T	ENST00000013070.6	+	4	614	c.378C>T	c.(376-378)taC>taT	p.Y126Y	UBR7_ENST00000416753.1_Silent_p.Y50Y|RP11-371E8.4_ENST00000557048.1_3'UTR|RP11-371E8.4_ENST00000557574.1_Silent_p.Y145Y	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	126							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						GCAATAAGTACAATGACAACT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	78	80			NA	NA	14		NA											NA				93678410		2203	4300	6503	SO:0001819	synonymous_variant			AK001345	CCDS9909.1	14q32.12	2008-06-23	2008-06-23	2008-06-23		ENSG00000012963	55148	55148		Ubiquitin protein ligase E3 component n-recognins	20344	protein-coding gene	gene with protein product		613816	chromosome 14 open reading frame 130	C14orf130	NA	18162545	Standard	NM_175748	NM_175748	NA	Approved		uc001ybm.4	Q8N806		ENST00000013070.6:c.378C>T	14.37:g.93678410C>T		NA	Q86U21|Q86UA9|Q96BY0|Q9NVV6	37	CCDS9909.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.006|9.006	0.981241|0.981241	0.18812|0.18812	.|.	.|.	ENSG00000012963|ENSG00000012963	ENST00000555113|ENST00000553857	.|.	.|.	.|.	5.89|5.89	1.59|1.59	0.23543|0.23543	.|.	.|.	.|.	.|.	.|.	.|T	.|0.58264	.|0.2110	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.52366	.|-0.8585	.|4	.|.	.|.	.|.	-0.6792|-0.6792	9.7459|9.7459	0.40446|0.40446	0.0:0.5626:0.0:0.4374|0.0:0.5626:0.0:0.4374	.|.	.|.	.|.	.|.	X|I	117|52	.|.	.|.	Q|T	+|+	1|2	0|0	UBR7|UBR7	92748163|92748163	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.018000|1.018000	0.30002|0.30002	0.414000|0.414000	0.25790|0.25790	0.591000|0.591000	0.81541|0.81541	CAA|ACA	UBR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412693.1		+	ENST00000013070.6	Silent	SNP	14 : 93678410 - 93678410 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	151	18
FLG	2312	broad.mit.edu	37	1	152281915	152281915	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152281915T>C	ENST00000368799.1	-	3	5482	c.5447A>G	c.(5446-5448)cAc>cGc	p.H1816R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1816	Ser-rich.		H -> Q (in dbSNP:rs12073613).		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACCCTGGGTGTCCACGAAT	0.597		NA							Ichthyosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													360	364	362			NA	NA	1		NA											NA				152281915		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631	2312	2312		EF-hand domain containing	3748	protein-coding gene	gene with protein product		135940			NA	2740331, 2248957, 16444271	Standard	NM_002016	NM_002016	NA	Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5447A>G	1.37:g.152281915T>C	ENSP00000357789:p.His1816Arg	NA	Q01720|Q5T583|Q9UC71	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	T	5.848	0.340718	0.11069	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.01629	4.72	4.0	0.302	0.15786	.	.	.	.	.	T	0.00608	0.0020	M	0.65320	2	0.09310	N	1	P	0.37864	0.61	B	0.37833	0.259	T	0.39881	-0.9592	9	0.05525	T	0.97	.	6.1779	0.20455	0.0:0.3321:0.0:0.6679	.	1816	P20930	FILA_HUMAN	R	1816;51	ENSP00000357789:H1816R	ENSP00000271820:H51R	H	-	2	0	FLG	150548539	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.244000	0.18124	-0.039000	0.13602	-0.490000	0.04691	CAC	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033742.1		-	ENST00000368799.1	Missense_Mutation	SNP	1 : 152281915 - 152281915 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2383	769
TENC1	23371	broad.mit.edu	37	12	53454543	53454543	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53454543G>A	ENST00000546602.1	+	20	2562	c.2562G>A	c.(2560-2562)caG>caA	p.Q854Q	TENC1_ENST00000314250.6_Silent_p.Q951Q|TENC1_ENST00000379902.3_Silent_p.Q827Q|TENC1_ENST00000552570.1_Silent_p.Q951Q|TENC1_ENST00000451358.1_Silent_p.Q941Q|TENC1_ENST00000314276.3_Silent_p.Q961Q|TENC1_ENST00000549700.1_Silent_p.Q886Q			Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	951	Pro-rich.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CTGTTTCCCAGGCAGGCACCG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	34	33			NA	NA	12		NA											NA				53454543		2203	4300	6503	SO:0001819	synonymous_variant			AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077	23371	23371		Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs, SH2 domain containing	19737	protein-coding gene	gene with protein product	tensin 2	607717	tensin like C1 domain-containing phosphatase		NA		Standard	NM_170754	NM_015319	NA	Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000546602.1:c.2562G>A	12.37:g.53454543G>A		NA	A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	37																																																																																				TENC1-008	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000405791.2		+	ENST00000546602.1	Silent	SNP	12 : 53454543 - 53454543 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	216	24
CELSR2	1952	broad.mit.edu	37	1	109811248	109811248	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109811248C>T	ENST00000271332.3	+	18	6425	c.6364C>T	c.(6364-6366)Cgg>Tgg	p.R2122W		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2122					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AGCCAACAAGCGGCACTGGGA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(158;1285 2011 34800 34852 42084)							NA				0								C	TRP/ARG	0,4406		0,0,2203	42	42	42		6364	4	1	1		42	1,8599	1.2+/-3.3	0,1,4299	no	missense	CELSR2	NM_001408.2	101	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	2122/2924	109811248	1,13005	2203	4300	6503	SO:0001583	missense			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126	1952	1952		Cadherins / Major cadherins, -, GPCR / Class B : Orphans	3231	protein-coding gene	gene with protein product		604265	cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog	EGFL2	NA	9693030, 10907856	Standard	NM_001408	NM_001408	NA	Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.6364C>T	1.37:g.109811248C>T	ENSP00000271332:p.Arg2122Trp	NA	Q5T2Y7|Q92566	37	CCDS796.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620167	0.66787	0.0	1.16E-4	ENSG00000143126	ENST00000271332	T	0.09911	2.93	4.9	3.96	0.45880	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.10035	0.0246	N	0.22421	0.69	0.35826	D	0.824974	D	0.76494	0.999	D	0.68765	0.96	T	0.07214	-1.0784	9	0.72032	D	0.01	.	11.3079	0.49347	0.1458:0.7219:0.1323:0.0	.	2122	Q9HCU4	CELR2_HUMAN	W	2122	ENSP00000271332:R2122W	ENSP00000271332:R2122W	R	+	1	2	CELSR2	109612771	0.770000	0.28543	1.000000	0.80357	0.995000	0.86356	0.632000	0.24583	1.248000	0.43934	0.561000	0.74099	CGG	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033200.1		+	ENST00000271332.3	Missense_Mutation	SNP	1 : 109811248 - 109811248 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	242	22
TIAM2	26230	broad.mit.edu	37	6	155572061	155572061	+	Silent	SNP	G	G	A	rs145496334		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:155572061G>A	ENST00000528391.2	+	17	2116	c.1974G>A	c.(1972-1974)tcG>tcA	p.S658S	TIAM2_ENST00000529824.2_Silent_p.S1351S|TIAM2_ENST00000456144.1_Silent_p.S1351S|TIAM2_ENST00000367174.2_Silent_p.S698S|TIAM2_ENST00000456877.2_Silent_p.S634S|TIAM2_ENST00000360366.4_Silent_p.S1346S|TIAM2_ENST00000318981.5_Silent_p.S1322S|TIAM2_ENST00000275246.7_Silent_p.S247S|TIAM2_ENST00000461783.3_Silent_p.S1322S			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1322					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CAGAACTTTCGATGGGAGAGC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	1,4405	2.1+/-5.4	0,1,2202	164	156	158		741,3966	-10.6	0.7	6	dbSNP_134	158	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TIAM2	NM_001010927.2,NM_012454.3	,	0,2,6501	AA,AG,GG	NA	0.0116,0.0227,0.0154	,	247/627,1322/1702	155572061	2,13004	2203	4300	6503	SO:0001819	synonymous_variant				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426	26230	26230		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	11806	protein-coding gene	gene with protein product		604709			NA	10512681	Standard	NM_012454	NM_012454	NA	Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000528391.2:c.1974G>A	6.37:g.155572061G>A		NA	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	37																																																																																				TIAM2-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000042808.3		+	ENST00000528391.2	Silent	SNP	6 : 155572061 - 155572061 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	542	119
CACNA1I	8911	broad.mit.edu	37	22	39966944	39966944	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39966944C>T	ENST00000402142.3	+	1	187	c.187C>T	c.(187-189)Cga>Tga	p.R63*	CACNA1I_ENST00000407673.1_Nonsense_Mutation_p.R63*|CACNA1I_ENST00000401624.1_Nonsense_Mutation_p.R63*|CACNA1I_ENST00000400164.3_Nonsense_Mutation_p.R63*|CACNA1I_ENST00000336649.4_Nonsense_Mutation_p.R63*|CACNA1I_ENST00000404898.1_Nonsense_Mutation_p.R63*	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	63					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CTTCTGCCTGCGACAGACCAC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	90	87			NA	NA	22		NA											NA				39966944		2081	4198	6279	SO:0001587	stop_gained			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346	8911	8911		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1396	protein-coding gene	gene with protein product		608230			NA	10454147, 16382099	Standard	NM_001003406	NM_021096	NA	Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.187C>T	22.37:g.39966944C>T	ENSP00000385019:p.Arg63*	NA	B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	37	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	C	38	6.821164	0.97865	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	.	.	.	5.27	4.18	0.49190	.	3.044690	0.01288	N	0.009929	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	11.6336	0.51189	0.3447:0.6553:0.0:0.0	.	.	.	.	X	63	.	ENSP00000337829:R63X	R	+	1	2	CACNA1I	38296890	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.915000	0.63355	2.633000	0.89246	0.561000	0.74099	CGA	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321290.1		+	ENST00000402142.3	Nonsense_Mutation	SNP	22 : 39966944 - 39966944 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	606	97
ZNF598	90850	broad.mit.edu	37	16	2049591	2049591	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2049591G>A	ENST00000563630.1	-	9	2036	c.1794C>T	c.(1792-1794)ctC>ctT	p.L598L	ZNF598_ENST00000562103.1_Silent_p.L598L|ZNF598_ENST00000431526.1_Silent_p.L653L			Q86UK7	ZN598_HUMAN	zinc finger protein 598	653	Pro-rich.					intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GGGGCCTTGGGAGCCCAGGGG	0.731		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	14	13			NA	NA	16		NA											NA				2049591		1715	3872	5587	SO:0001819	synonymous_variant			BC029270		16p13.3	2008-05-02				ENSG00000167962	90850	90850		Zinc fingers, C2H2-type	28079	protein-coding gene	gene with protein product					NA		Standard	NM_178167	NM_178167	NA	Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.1794C>T	16.37:g.2049591G>A		NA	Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	37																																																																																				ZNF598-001	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000434439.1		-	ENST00000563630.1	Silent	SNP	16 : 2049591 - 2049591 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	182	38
MVP	9961	broad.mit.edu	37	16	29842323	29842323	+	Missense_Mutation	SNP	C	C	T	rs146114293	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29842323C>T	ENST00000357402.5	+	3	388	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	MVP_ENST00000452209.2_Intron|MVP_ENST00000395353.1_Missense_Mutation_p.R84C	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	84					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						AGTTCGGCTTCGCCACGCTGA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG,CYS/ARG	0,4394		0,0,2197	92	68	76		250,250	5.5	1	16	dbSNP_134	76	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	MVP	NM_005115.4,NM_017458.3	180,180	0,2,6495	TT,TC,CC	NA	0.0233,0.0,0.0154	probably-damaging,probably-damaging	84/894,84/894	29842323	2,12992	2197	4300	6497	SO:0001583	missense			X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364	9961	9961			7531	protein-coding gene	gene with protein product	lung resistance-related protein	605088			NA	7585126	Standard	NM_005115	NM_005115	NA	Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.250C>T	16.37:g.29842323C>T	ENSP00000349977:p.Arg84Cys	NA	Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	37	CCDS10656.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181939	0.78677	0.0	2.33E-4	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.35605	1.3;1.3	5.46	5.46	0.80206	.	0.156352	0.56097	D	0.000023	T	0.59959	0.2232	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	T	0.65142	-0.6240	10	0.87932	D	0	-20.0859	11.8372	0.52333	0.1749:0.8251:0.0:0.0	.	84	Q14764	MVP_HUMAN	C	84	ENSP00000349977:R84C;ENSP00000378760:R84C	ENSP00000349977:R84C	R	+	1	0	MVP	29749824	0.932000	0.31603	1.000000	0.80357	0.987000	0.75469	1.701000	0.37825	2.576000	0.86940	0.561000	0.74099	CGC	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109711.3		+	ENST00000357402.5	Missense_Mutation	SNP	16 : 29842323 - 29842323 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	45
SMAD9	4093	broad.mit.edu	37	13	37447026	37447026	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37447026G>A	ENST00000350148.5	-	3	747	c.439C>T	c.(439-441)Cac>Tac	p.H147Y	SMAD9_ENST00000379826.4_Missense_Mutation_p.H147Y|SMAD9_ENST00000399275.2_Missense_Mutation_p.H147Y	NM_005905.5	NP_005896.1	O15198	SMAD9_HUMAN	SMAD family member 9	147					BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		TATTCACTGTGTCTTGGCACG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	86	90			NA	NA	13		NA											NA				37447026		2203	4300	6503	SO:0001583	missense				CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693	4093	4093		SMADs	6774	protein-coding gene	gene with protein product		603295	MAD, mothers against decapentaplegic homolog 9 (Drosophila), SMAD, mothers against DPP homolog 9 (Drosophila)	MADH6, MADH9	NA	9205116	Standard	NM_005905	NM_001127217	NA	Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000350148.5:c.439C>T	13.37:g.37447026G>A	ENSP00000239885:p.His147Tyr	NA	A2A2Y6|O14989|Q5TBA1	37	CCDS9360.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092689	0.56075	.	.	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	D;D;D	0.94376	-3.41;-3.4;-3.41	5.24	5.24	0.73138	MAD homology, MH1 (1);	0.000000	0.85682	D	0.000000	D	0.92008	0.7468	M	0.63428	1.95	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.005	D	0.88287	0.2940	10	0.29301	T	0.29	.	18.172	0.89749	0.0:0.0:1.0:0.0	.	147;147	O15198-2;O15198	.;SMAD9_HUMAN	Y	147	ENSP00000382216:H147Y;ENSP00000239885:H147Y;ENSP00000369154:H147Y	ENSP00000239885:H147Y	H	-	1	0	SMAD9	36345026	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.664000	0.98607	2.590000	0.87494	0.563000	0.77884	CAC	SMAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044526.2		-	ENST00000350148.5	Missense_Mutation	SNP	13 : 37447026 - 37447026 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	41
MAGEL2	54551	broad.mit.edu	37	15	23889232	23889232	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23889232G>T	ENST00000532292.1	-	1	1943	c.1849C>A	c.(1849-1851)Ctc>Atc	p.L617I		NM_019066.4	NP_061939.3			MAGE-like 2	NA										breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CACTCTGCGAGCGCTTCAAGG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	63	61			NA	NA	15		NA											NA				23889232		2040	4195	6235	SO:0001583	missense			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585	54551	54551			6814	protein-coding gene	gene with protein product		605283		NDNL1	NA	10556298	Standard	NM_019066	NM_019066	NA	Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1849C>A	15.37:g.23889232G>T	ENSP00000433433:p.Leu617Ile	NA		37																																																																																				MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000395182.2		-	ENST00000532292.1	Missense_Mutation	SNP	15 : 23889232 - 23889232 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	307	63
POC1B	282809	broad.mit.edu	37	12	89885781	89885781	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:89885781T>C	ENST00000313546.3	-	4	512	c.384A>G	c.(382-384)gtA>gtG	p.V128V	POC1B_ENST00000541909.1_5'UTR|POC1B_ENST00000549035.1_Silent_p.V86V|POC1B_ENST00000393179.4_5'UTR|POC1B_ENST00000378528.2_5'UTR|POC1B_ENST00000549504.1_5'UTR	NM_172240.2	NP_758440.1			POC1 centriolar protein B	NA										endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						ACATGCTCCATACTTTTATGG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	126	127			NA	NA	12		NA											NA				89885781		2203	4300	6503	SO:0001819	synonymous_variant			AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323	282809	282809		WD repeat domain containing	30836	protein-coding gene	gene with protein product		614784	WD repeat domain 51B, POC1 centriolar protein homolog B (Chlamydomonas)	WDR51B	NA	19109428	Standard	NM_172240	NM_172240	NA	Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.384A>G	12.37:g.89885781T>C		NA		37	CCDS31869.1																																																																																			POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406637.1		-	ENST00000313546.3	Silent	SNP	12 : 89885781 - 89885781 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	31
CTSE	1510	broad.mit.edu	37	1	206319192	206319192	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206319192C>A	ENST00000358184.2	+	3	435	c.317C>A	c.(316-318)tCt>tAt	p.S106Y	CTSE_ENST00000360218.2_Missense_Mutation_p.S106Y|CTSE_ENST00000361052.3_Missense_Mutation_p.S106Y|CTSE_ENST00000432969.2_Missense_Mutation_p.S31Y	NM_001910.3	NP_001901.1	P14091	CATE_HUMAN	cathepsin E	106					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TGGGTCCCCTCTGTGTACTGC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	83	87			NA	NA	1		NA											NA				206319192		2203	4300	6503	SO:0001583	missense			BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	1510	1510	3.4.23.5	Cathepsins	2530	protein-coding gene	gene with protein product		116890			NA	2369841, 2674141	Standard	NM_001910	NM_001910	NA	Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000358184.2:c.317C>A	1.37:g.206319192C>A	ENSP00000350911:p.Ser106Tyr	NA	Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	37	CCDS1462.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.289747	0.80914	.	.	ENSG00000196188	ENST00000358184;ENST00000361052;ENST00000360218;ENST00000432969	T;T;T;T	0.62788	-0.0;-0.0;0.06;0.05	4.78	4.78	0.61160	.	0.000000	0.64402	D	0.000002	D	0.85062	0.5611	H	0.94964	3.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.995;0.996;0.993	D	0.89303	0.3627	10	0.87932	D	0	.	17.9775	0.89131	0.0:1.0:0.0:0.0	.	31;106;106	B4DNU8;P14091-2;P14091-1	.;.;.	Y	106;106;106;31	ENSP00000350911:S106Y;ENSP00000354337:S106Y;ENSP00000353350:S106Y;ENSP00000394607:S31Y	ENSP00000350911:S106Y	S	+	2	0	CTSE	204485815	1.000000	0.71417	0.999000	0.59377	0.768000	0.43524	7.051000	0.76627	2.655000	0.90218	0.655000	0.94253	TCT	CTSE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087998.1		+	ENST00000358184.2	Missense_Mutation	SNP	1 : 206319192 - 206319192 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	390	119
KLHL40	131377	broad.mit.edu	37	3	42729786	42729786	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42729786C>T	ENST00000287777.4	+	2	1405	c.1305C>T	c.(1303-1305)taC>taT	p.Y435Y		NM_152393.2	NP_689606.2			kelch-like family member 40	NA											NA						TCATGTGCTACGACAGGCTGT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	37	38			NA	NA	3		NA											NA				42729786		2202	4300	6502	SO:0001819	synonymous_variant			AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119	131377	131377		Kelch-like, BTB/POZ domain containing	30372	protein-coding gene	gene with protein product	sarcosynapsin, nemaline myopathy type 8	615340	kelch repeat and BTB (POZ) domain containing 5, kelch-like 40 (Drosophila)	KBTBD5	NA	23746549	Standard	NM_152393	NM_152393	NA	Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.1305C>T	3.37:g.42729786C>T		NA		37	CCDS2703.1																																																																																			KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256651.1		+	ENST00000287777.4	Silent	SNP	3 : 42729786 - 42729786 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	72
HK1	3098	broad.mit.edu	37	10	71129326	71129326	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71129326G>A	ENST00000359426.6	+	7	925	c.821G>A	c.(820-822)cGg>cAg	p.R274Q	HK1_ENST00000360289.2_Missense_Mutation_p.R262Q|HK1_ENST00000448642.2_Missense_Mutation_p.R309Q|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000298649.3_Missense_Mutation_p.R273Q|HK1_ENST00000404387.2_Missense_Mutation_p.R278Q	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	274	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GAAGACATCCGGACAGAGTTT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	104	106			NA	NA	10		NA											NA				71129326		2203	4300	6503	SO:0001583	missense			M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	3098	3098	2.7.1.1		4922	protein-coding gene	gene with protein product		142600			NA		Standard	NM_000188	NM_033496	NA	Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.821G>A	10.37:g.71129326G>A	ENSP00000352398:p.Arg274Gln	NA	O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	37	CCDS7292.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595268	0.66219	.	.	ENSG00000156515	ENST00000360289;ENST00000448642;ENST00000404387;ENST00000436817;ENST00000298649;ENST00000359426;ENST00000405407	D;D;D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17;-4.17;-4.17	5.34	5.34	0.76211	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97794	0.9276	M	0.70842	2.15	0.80722	D	1	D;D;D;D;P;P	0.89917	0.976;0.976;1.0;0.979;0.927;0.875	P;B;D;B;B;B	0.71870	0.501;0.397;0.975;0.273;0.245;0.098	D	0.97892	1.0298	10	0.49607	T	0.09	-0.0783	19.0383	0.92987	0.0:0.0:1.0:0.0	.	274;274;273;309;278;262	A8K7J7;P19367;P19367-2;E7ENR4;P19367-3;P19367-4	.;HXK1_HUMAN;.;.;.;.	Q	262;309;278;273;273;274;274	ENSP00000353433:R262Q;ENSP00000402103:R309Q;ENSP00000384774:R278Q;ENSP00000415949:R273Q;ENSP00000298649:R273Q;ENSP00000352398:R274Q	ENSP00000298649:R273Q	R	+	2	0	HK1	70799332	1.000000	0.71417	0.979000	0.43373	0.152000	0.21847	7.863000	0.87023	2.499000	0.84300	0.563000	0.77884	CGG	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048429.2		+	ENST00000359426.6	Missense_Mutation	SNP	10 : 71129326 - 71129326 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	291	59
DIRAS2	54769	broad.mit.edu	37	9	93375522	93375522	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93375522G>A	ENST00000375765.3	-	2	976	c.588C>T	c.(586-588)tgC>tgT	p.C196C		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	196					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						ACATGATCACGCACTTGCCTT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													189	167	174			NA	NA	9		NA											NA				93375522		2203	4300	6503	SO:0001819	synonymous_variant			AB076889	CCDS6687.1	9q22.32	2014-05-09			ENSG00000165023	ENSG00000165023	NA	54769			19323	protein-coding gene	gene with protein product		607863			NA	12194967	Standard		NM_017594	NA	Approved	Di-Ras2, DKFZp761C07121	uc004aqx.1	Q96HU8	OTTHUMG00000020196	ENST00000375765.3:c.588C>T	9.37:g.93375522G>A		NA	B3KVM2	37	CCDS6687.1																																																																																			DIRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053012.1		-	ENST00000375765.3	Silent	SNP	9 : 93375522 - 93375522 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	506	95
ARC	23237	broad.mit.edu	37	8	143694703	143694703	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143694703C>A	ENST00000356613.2	-	1	2130	c.930G>T	c.(928-930)caG>caT	p.Q310H		NM_015193.4	NP_056008.1	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated protein	310					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				CGTAGAGCGTCTGGTACAGGT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	55	56			NA	NA	8		NA											NA				143694703		2203	4300	6503	SO:0001583	missense			AF193421	CCDS34950.1	8q24.3	2008-08-01			ENSG00000198576	ENSG00000198576	23237	23237			648	protein-coding gene	gene with protein product		612461			NA	10970730, 17466953	Standard		NM_015193	NA	Approved	KIAA0278, Arg3.1	uc003ywn.2	Q7LC44	OTTHUMG00000134310	ENST00000356613.2:c.930G>T	8.37:g.143694703C>A	ENSP00000349022:p.Gln310His	NA	Q9UJW6|Q9Y469	37	CCDS34950.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.098156	0.37048	.	.	ENSG00000198576	ENST00000356613	T	0.31769	1.48	4.75	4.75	0.60458	.	0.112617	0.38897	U	0.001539	T	0.18676	0.0448	N	0.12182	0.205	0.39006	D	0.959457	B	0.23650	0.089	B	0.26310	0.068	T	0.10268	-1.0637	10	0.29301	T	0.29	.	12.6204	0.56600	0.0:0.8332:0.1668:0.0	.	310	Q7LC44	ARC_HUMAN	H	310	ENSP00000349022:Q310H	ENSP00000349022:Q310H	Q	-	3	2	ARC	143691705	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	1.762000	0.38451	2.189000	0.69895	0.563000	0.77884	CAG	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000259274.2		-	ENST00000356613.2	Missense_Mutation	SNP	8 : 143694703 - 143694703 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	280	71
ITGB8	3696	broad.mit.edu	37	7	20420382	20420382	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20420382A>C	ENST00000222573.4	+	5	1413	c.729A>C	c.(727-729)agA>agC	p.R243S	ITGB8_ENST00000537992.1_Missense_Mutation_p.R108S	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	NA	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CAGTTCATAGACAGAAGATCT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	124	128			NA	NA	7		NA											NA				20420382		2203	4300	6503	SO:0001583	missense				CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855	3696	3696		Integrins	6163	protein-coding gene	gene with protein product		604160			NA		Standard	NM_002214	XM_005249751	NA	Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.729A>C	7.37:g.20420382A>C	ENSP00000222573:p.Arg243Ser	NA	A4D133	37	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	A	14.88	2.667596	0.47677	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.97620	-4.46;-4.46	6.07	4.92	0.64577	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.069216	0.64402	D	0.000010	D	0.92698	0.7679	L	0.28608	0.87	0.38344	D	0.944144	B;B	0.09022	0.001;0.002	B;B	0.12156	0.006;0.007	D	0.88415	0.3024	10	0.62326	D	0.03	.	5.2764	0.15651	0.7337:0.0:0.1326:0.1337	.	243;243	P26012;Q9BUG9	ITB8_HUMAN;.	S	108;243	ENSP00000441561:R108S;ENSP00000222573:R243S	ENSP00000222573:R243S	R	+	3	2	ITGB8	20386907	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.664000	0.37439	1.103000	0.41568	-0.301000	0.09380	AGA	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059915.3		+	ENST00000222573.4	Missense_Mutation	SNP	7 : 20420382 - 20420382 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	456	45
FCN1	2219	broad.mit.edu	37	9	137804960	137804960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137804960G>A	ENST00000371806.3	-	6	461	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	124	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		AAATACCCCCGGTCTAGCAGG	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	42	43			NA	NA	9		NA											NA				137804960		2203	4300	6503	SO:0001583	missense			D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265	2219	2219		Fibrinogen C domain containing	3623	protein-coding gene	gene with protein product		601252	ficolin (collagen/fibrinogen domain-containing) 1		NA	8573080, 8884275	Standard	NM_002003	NM_002003	NA	Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.370C>T	9.37:g.137804960G>A	ENSP00000360871:p.Arg124Trp	NA	Q92596	37	CCDS6985.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.567818	0.45798	.	.	ENSG00000085265	ENST00000371807;ENST00000371806;ENST00000308299	T	0.78126	-1.15	3.39	-0.646	0.11472	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	.	.	.	.	D	0.85635	0.5742	M	0.90309	3.105	0.09310	N	1	D	0.76494	0.999	P	0.54965	0.765	T	0.77907	-0.2412	9	0.87932	D	0	.	11.0246	0.47739	0.0:0.0:0.5173:0.4827	.	124	O00602	FCN1_HUMAN	W	124;124;112	ENSP00000360871:R124W	ENSP00000308877:R112W	R	-	1	2	FCN1	136944781	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.134000	0.15932	-0.115000	0.11915	-0.287000	0.09952	CGG	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054963.1		-	ENST00000371806.3	Missense_Mutation	SNP	9 : 137804960 - 137804960 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	165	30
NT5C	30833	broad.mit.edu	37	17	73126651	73126651	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73126651G>A	ENST00000582170.1	-	5	569	c.533C>T	c.(532-534)gCt>gTt	p.A178V	NT5C_ENST00000245552.2_Silent_p.L180L|NT5C_ENST00000582160.1_Silent_p.L94L			Q8TCD5	NT5C_HUMAN	5', 3'-nucleotidase, cytosolic	0					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine deoxyribonucleotide catabolic process|pyrimidine nucleoside catabolic process	cytosol|nucleus	5'-nucleotidase activity|metal ion binding|pyrimidine nucleotide binding				NA	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			CAGGAGAGCAGCCGTCTCCTT	0.617		NA									OREG0024728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	71	72			NA	NA	17		NA											NA				73126651		2203	4300	6503	SO:0001583	missense			AF154829	CCDS11715.1	17q25	2011-03-29	2002-05-23		ENSG00000125458	ENSG00000125458	30833	30833	3.1.3.5		17144	protein-coding gene	gene with protein product		191720	5' nucleotidase, deoxy (pyrimidine), cytosolic type C, uridine 5-prime monophosphate hydrolase 2	UMPH2	NA	10899995	Standard		NM_014595	NA	Approved	DNT1, DNT-1, PN-I, cdN, dNT-1	uc002jmx.3	Q8TCD5		ENST00000582170.1:c.533C>T	17.37:g.73126651G>A	ENSP00000461927:p.Ala178Val	1142	Q96HS6|Q9NP82	37																																																																																				NT5C-015	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000445859.1		-	ENST00000582170.1	Missense_Mutation	SNP	17 : 73126651 - 73126651 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	592	127
ISLR	3671	broad.mit.edu	37	15	74467458	74467458	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74467458C>T	ENST00000249842.3	+	2	616	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	ISLR_ENST00000395118.1_Missense_Mutation_p.R87C|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	87					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CAATGAGATCCGCACGGTGGC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	39	38			NA	NA	15		NA											NA				74467458		2198	4297	6495	SO:0001583	missense			AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009	3671	3671		Immunoglobulin superfamily / I-set domain containing	6133	protein-coding gene	gene with protein product		602059			NA	9325048	Standard	NM_005545	NM_005545	NA	Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.259C>T	15.37:g.74467458C>T	ENSP00000249842:p.Arg87Cys	NA		37	CCDS10260.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.098976	0.37048	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.58210	0.35;0.35	4.05	3.05	0.35203	.	0.269415	0.25622	U	0.029420	T	0.50514	0.1620	L	0.38692	1.165	0.29700	N	0.840249	D	0.76494	0.999	P	0.60541	0.876	T	0.50668	-0.8801	10	0.54805	T	0.06	.	2.1307	0.03749	0.2833:0.3843:0.2311:0.1013	.	87	O14498	ISLR_HUMAN	C	87	ENSP00000249842:R87C;ENSP00000378550:R87C	ENSP00000249842:R87C	R	+	1	0	ISLR	72254511	0.872000	0.30054	0.960000	0.40013	0.520000	0.34377	1.133000	0.31430	1.822000	0.53115	0.313000	0.20887	CGC	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269044.1		+	ENST00000249842.3	Missense_Mutation	SNP	15 : 74467458 - 74467458 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	384	65
PLCH1	23007	broad.mit.edu	37	3	155198762	155198762	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:155198762G>A	ENST00000460012.1	-	23	5320	c.4963C>T	c.(4963-4965)Ctg>Ttg	p.L1655L	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Silent_p.L1655L|PLCH1_ENST00000414191.1_Silent_p.L1655L|PLCH1_ENST00000340059.7_Silent_p.L1693L			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1693					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATAATTCACAGTCTCAAAAGA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	47	44			NA	NA	3		NA											NA				155198762		2202	4299	6501	SO:0001819	synonymous_variant			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	23007	23007	3.1.4.11	EF-hand domain containing	29185	protein-coding gene	gene with protein product		612835	phospholipase C-like 3	PLCL3	NA	15702972	Standard	NM_014996	NM_014996	NA	Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000460012.1:c.4963C>T	3.37:g.155198762G>A		NA	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	37	CCDS33881.1																																																																																			PLCH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351123.2		-	ENST00000460012.1	Silent	SNP	3 : 155198762 - 155198762 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	304	41
CHAT	1103	broad.mit.edu	37	10	50860033	50860033	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50860033C>A	ENST00000337653.2	+	11	1768	c.1615C>A	c.(1615-1617)Ctc>Atc	p.L539I	CHAT_ENST00000455728.2_Missense_Mutation_p.L421I|CHAT_ENST00000395559.2_Missense_Mutation_p.L421I|CHAT_ENST00000339797.1_Missense_Mutation_p.L421I|CHAT_ENST00000351556.3_Missense_Mutation_p.L421I|CHAT_ENST00000395562.2_Missense_Mutation_p.L457I	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	539					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CCAGGTGGCCCTCCAGCTGGC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	72	73			NA	NA	10		NA											NA				50860033		2203	4300	6503	SO:0001583	missense			AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	1103	1103	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	choline acetyltransferase		NA	1840566	Standard	NM_020549	NM_020984	NA	Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1615C>A	10.37:g.50860033C>A	ENSP00000337103:p.Leu539Ile	NA	A2BDF4|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	37	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440163	0.63067	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8;-2.8;-2.8	4.85	4.85	0.62838	.	0.064020	0.64402	D	0.000009	D	0.93331	0.7874	L	0.60845	1.875	0.58432	D	0.999996	P;P	0.48016	0.904;0.761	P;P	0.57679	0.795;0.825	D	0.93744	0.7053	10	0.56958	D	0.05	-19.8669	17.9506	0.89052	0.0:1.0:0.0:0.0	.	421;539	F8W8I2;P28329	.;CLAT_HUMAN	I	421;421;421;539;457;421	ENSP00000343486:L421I;ENSP00000345878:L421I;ENSP00000378926:L421I;ENSP00000337103:L539I;ENSP00000378929:L457I;ENSP00000390521:L421I	ENSP00000337103:L539I	L	+	1	0	CHAT	50530039	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	4.675000	0.61619	2.242000	0.73789	0.561000	0.74099	CTC	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047997.1		+	ENST00000337653.2	Missense_Mutation	SNP	10 : 50860033 - 50860033 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	11
SYT14	255928	broad.mit.edu	37	1	210273403	210273403	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210273403A>C	ENST00000367015.1	+	6	953	c.647A>C	c.(646-648)gAt>gCt	p.D216A	SYT14_ENST00000422431.1_Missense_Mutation_p.D299A|SYT14_ENST00000367019.1_Missense_Mutation_p.D254A|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000472886.1_Missense_Mutation_p.D254A|SYT14_ENST00000534859.1_Missense_Mutation_p.D254A|SYT14_ENST00000537238.1_Missense_Mutation_p.D216A|SYT14_ENST00000399639.2_Missense_Mutation_p.D254A			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	254						integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		AAACCTTTTGATCCTGAGCCA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	62	63			NA	NA	1		NA											NA				210273403		2203	4300	6503	SO:0001583	missense			AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469	255928	255928		Synaptotagmins	23143	protein-coding gene	gene with protein product		610949			NA		Standard	NM_153262	NM_001256006	NA	Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000367015.1:c.647A>C	1.37:g.210273403A>C	ENSP00000355982:p.Asp216Ala	NA	B1AJU0|B1AJU1|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	37	CCDS58058.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.123693	0.56613	.	.	ENSG00000143469	ENST00000422431;ENST00000534859;ENST00000399639;ENST00000537238;ENST00000367019;ENST00000472886;ENST00000367015	T;T;T;T;T;T;T	0.09073	3.02;3.02;3.02;3.02;3.02;3.02;3.02	5.88	3.53	0.40419	C2 calcium/lipid-binding domain, CaLB (1);	0.207325	0.49305	D	0.000159	T	0.08403	0.0209	N	0.19112	0.55	0.52501	D	0.999958	B;B;P;B	0.49961	0.035;0.013;0.93;0.059	B;B;P;B	0.50440	0.017;0.01;0.641;0.039	T	0.32481	-0.9905	10	0.40728	T	0.16	-13.0195	7.8436	0.29412	0.809:0.0:0.067:0.124	.	282;254;254;299	A1L3Y1;Q8NB59;Q8NB59-6;F5H426	.;SYT14_HUMAN;.;.	A	299;254;254;216;254;254;216	ENSP00000389039:D299A;ENSP00000442891:D254A;ENSP00000445837:D254A;ENSP00000437423:D216A;ENSP00000355986:D254A;ENSP00000418901:D254A;ENSP00000355982:D216A	ENSP00000355982:D216A	D	+	2	0	SYT14	208340026	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.569000	0.67391	0.457000	0.26962	0.477000	0.44152	GAT	SYT14-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089126.1		+	ENST00000367015.1	Missense_Mutation	SNP	1 : 210273403 - 210273403 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	339	81
ADAMDEC1	27299	broad.mit.edu	37	8	24254940	24254940	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24254940C>T	ENST00000256412.4	+	6	818	c.598C>T	c.(598-600)Cga>Tga	p.R200*	ADAMDEC1_ENST00000522298.1_Nonsense_Mutation_p.R121*|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000538205.1_Nonsense_Mutation_p.R121*	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	200					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AGGCCCAATTCGAATCTCTAG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(147;687 1849 3699 25981 31337)							NA				0													180	175	176			NA	NA	8		NA											NA				24254940		2203	4300	6503	SO:0001587	stop_gained			Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028	27299	27299			16299	protein-coding gene	gene with protein product		606393			NA	9271581, 12037602	Standard	NM_014479	NM_001145271	NA	Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.598C>T	8.37:g.24254940C>T	ENSP00000256412:p.Arg200*	NA		37	CCDS6044.1	.	.	.	.	.	.	.	.	.	.	C	34	5.349813	0.95830	.	.	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	.	.	.	5.53	4.63	0.57726	.	0.000000	0.48767	D	0.000166	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-6.4743	11.5455	0.50690	0.1789:0.8211:0.0:0.0	.	.	.	.	X	200;121;121	.	ENSP00000256412:R200X	R	+	1	2	ADAMDEC1	24310885	0.910000	0.30920	0.080000	0.20451	0.010000	0.07245	1.631000	0.37092	1.297000	0.44761	0.557000	0.71058	CGA	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000215149.2		+	ENST00000256412.4	Nonsense_Mutation	SNP	8 : 24254940 - 24254940 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	868	168
PLXNA1	5361	broad.mit.edu	37	3	126735415	126735415	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126735415G>A	ENST00000393409.2	+	15	3070	c.3070G>A	c.(3070-3072)Gct>Act	p.A1024T	PLXNA1_ENST00000251772.4_Missense_Mutation_p.A1001T	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1024	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCCTGGCAGCGCTCCCATCAT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	105	104			NA	NA	3		NA											NA				126735415		2203	4300	6503	SO:0001583	missense			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554	5361	5361		Plexins	9099	protein-coding gene	gene with protein product		601055		PLXN1	NA	8570614	Standard	NM_032242	NM_032242	NA	Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3070G>A	3.37:g.126735415G>A	ENSP00000377061:p.Ala1024Thr	NA		37	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702763	0.30232	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.76448	-1.02;-1.02	3.84	2.96	0.34315	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.400014	0.23164	N	0.051205	T	0.66733	0.2819	L	0.46157	1.445	0.33196	D	0.551453	B	0.15930	0.015	B	0.20184	0.028	T	0.63171	-0.6697	10	0.22706	T	0.39	.	6.7254	0.23353	0.0995:0.0:0.6776:0.2228	.	1024	Q9UIW2	PLXA1_HUMAN	T	1024;1001	ENSP00000377061:A1024T;ENSP00000251772:A1001T	ENSP00000251772:A1001T	A	+	1	0	PLXNA1	128218105	0.863000	0.29885	0.928000	0.36995	0.689000	0.40095	2.159000	0.42339	0.836000	0.34901	-0.339000	0.08088	GCT	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356451.1		+	ENST00000393409.2	Missense_Mutation	SNP	3 : 126735415 - 126735415 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	571	95
MCL1	4170	broad.mit.edu	37	1	150551721	150551721	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150551721G>A	ENST00000369026.2	-	1	345	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L	MCL1_ENST00000307940.3_Silent_p.L96L	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia 1	96					anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			AAGAAAAGCAGCCTCGCGGGG	0.741		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													4	6	5			NA	NA	1		NA											NA				150551721		1735	3755	5490	SO:0001819	synonymous_variant			BC017197	CCDS956.1, CCDS957.1, CCDS72909.1	1q21	2014-03-07	2014-03-07		ENSG00000143384	ENSG00000143384	4170	4170			6943	protein-coding gene	gene with protein product		159552	myeloid cell leukemia sequence 1 (BCL2-related)		NA	7682708, 7835896	Standard	NM_021960	NM_021960	NA	Approved	BCL2L3, Mcl-1	uc001euz.3	Q07820	OTTHUMG00000034867	ENST00000369026.2:c.286C>T	1.37:g.150551721G>A		NA	B2R6B2|D3DV03|D3DV04|Q9HD91|Q9NRQ3|Q9NRQ4|Q9UHR7|Q9UHR8|Q9UHR9|Q9UNJ1	37	CCDS957.1																																																																																			MCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084402.1		-	ENST00000369026.2	Silent	SNP	1 : 150551721 - 150551721 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	86	20
C16orf86	388284	broad.mit.edu	37	16	67702121	67702121	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67702121G>A	ENST00000403458.4	+	4	727	c.572G>A	c.(571-573)cGg>cAg	p.R191Q		NM_001012984.2	NP_001013002.2	Q6ZW13	CP086_HUMAN	chromosome 16 open reading frame 86	191										endometrium(2)|lung(4)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CAGCGCCTGCGGCCGCTGTAC	0.662		NA									OREG0023886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	15	15			NA	NA	16		NA											NA				67702121		2193	4292	6485	SO:0001583	missense				CCDS32468.2	16q22.1	2008-10-30			ENSG00000159761	ENSG00000159761	388284	388284			33755	protein-coding gene	gene with protein product					NA		Standard	NM_001012984	NM_001012984	NA	Approved	FLJ41802	uc002ety.3	Q6ZW13	OTTHUMG00000150527	ENST00000403458.4:c.572G>A	16.37:g.67702121G>A	ENSP00000384117:p.Arg191Gln	1101	B5MCW6	37	CCDS32468.2	.	.	.	.	.	.	.	.	.	.	G	34	5.328238	0.95733	.	.	ENSG00000159761	ENST00000403458	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	T	0.64394	0.2594	L	0.29908	0.895	0.32848	D	0.506291	D	0.89917	1.0	D	0.91635	0.999	T	0.70637	-0.4817	8	0.87932	D	0	-14.3871	18.1519	0.89677	0.0:0.0:1.0:0.0	.	191	Q6ZW13	CP086_HUMAN	Q	191	.	ENSP00000384117:R191Q	R	+	2	0	C16orf86	66259622	0.982000	0.34865	0.998000	0.56505	0.953000	0.61014	4.142000	0.58044	2.826000	0.97356	0.563000	0.77884	CGG	C16orf86-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318767.2		+	ENST00000403458.4	Missense_Mutation	SNP	16 : 67702121 - 67702121 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	90	17
TRPC4	7223	broad.mit.edu	37	13	38266283	38266283	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38266283A>C	ENST00000379705.3	-	4	1944	c.1087T>G	c.(1087-1089)Ttt>Gtt	p.F363V	TRPC4_ENST00000426868.2_Missense_Mutation_p.F363V|TRPC4_ENST00000447043.1_Missense_Mutation_p.F363V|TRPC4_ENST00000379681.3_Missense_Mutation_p.F363V|TRPC4_ENST00000379673.2_Missense_Mutation_p.F363V|TRPC4_ENST00000358477.2_Missense_Mutation_p.F363V|TRPC4_ENST00000355779.2_Missense_Mutation_p.F363V|TRPC4_ENST00000379679.1_Missense_Mutation_p.F190V|TRPC4_ENST00000338947.5_Missense_Mutation_p.F190V			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	363					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AACTTGATAAATGGCTTCCTG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	115	116			NA	NA	13		NA											NA				38266283		2203	4300	6503	SO:0001583	missense			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107	7223	7223		Voltage-gated ion channels / Transient receptor potential cation channels, Ankyrin repeat domain containing	12336	protein-coding gene	gene with protein product		603651			NA	8646775, 16382100	Standard	NM_003306	NM_016179	NA	Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1087T>G	13.37:g.38266283A>C	ENSP00000369027:p.Phe363Val	NA	B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	37	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.509677	0.85282	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.73140	0.3549	M	0.64170	1.965	0.80722	D	1	D;D;D;D;D;D	0.76494	0.998;0.998;0.989;0.999;0.968;0.994	D;D;D;D;P;D	0.76071	0.967;0.976;0.979;0.987;0.889;0.947	T	0.75013	-0.3467	10	0.54805	T	0.06	-20.5245	15.5786	0.76414	1.0:0.0:0.0:0.0	.	363;363;363;190;363;363	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	V	363;363;190;190;363;363;363;363;363	ENSP00000369027:F363V;ENSP00000369003:F363V;ENSP00000342580:F190V;ENSP00000369001:F190V;ENSP00000410133:F363V;ENSP00000348025:F363V;ENSP00000351264:F363V;ENSP00000368995:F363V;ENSP00000414316:F363V	ENSP00000342580:F190V	F	-	1	0	TRPC4	37164283	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.172000	0.94808	2.130000	0.65690	0.383000	0.25322	TTT	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044574.2		-	ENST00000379705.3	Missense_Mutation	SNP	13 : 38266283 - 38266283 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	41
RPS6	6194	broad.mit.edu	37	9	19378800	19378800	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:19378800T>C	ENST00000380394.4	-	3	313	c.255A>G	c.(253-255)agA>agG	p.R85R	RPS6_ENST00000380384.1_Silent_p.R54R|RPS6_ENST00000315377.4_Silent_p.R54R|RPS6_ENST00000380381.3_3'UTR	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN	ribosomal protein S6	85					endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding			endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		TTCTCCTTGGTCTGTAACAGG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	38	39			NA	NA	9		NA											NA				19378800		2203	4300	6503	SO:0001819	synonymous_variant				CCDS6492.1	9p21	2011-04-05			ENSG00000137154	ENSG00000137154	6194	6194		S ribosomal proteins	10429	protein-coding gene	gene with protein product	40S ribosomal protein S6, phosphoprotein NP33	180460			NA	1577483	Standard	NM_001010	NM_001010	NA	Approved	S6	uc003znv.1	P62753	OTTHUMG00000019642	ENST00000380394.4:c.255A>G	9.37:g.19378800T>C		NA	P08227|P10660|Q4VBY7|Q8N6Z7	37	CCDS6492.1																																																																																			RPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051858.1		-	ENST00000380394.4	Silent	SNP	9 : 19378800 - 19378800 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	205	23
NDUFB1	4707	broad.mit.edu	37	14	92588068	92588068	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92588068G>A	ENST00000329559.3	-	1	193	c.54C>T	c.(52-54)gtC>gtT	p.V18V	NDUFB1_ENST00000605997.1_5'UTR|NDUFB1_ENST00000553514.1_5'UTR	NM_004545.3	NP_004536.2	O75438	NDUB1_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa	0					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(1)|lung(1)	2		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.205)	NADH(DB00157)	GCGACCTCGGGACCTGCCATT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	47	45			NA	NA	14		NA											NA				92588068		2203	4293	6496	SO:0001819	synonymous_variant			BC104672	CCDS9901.1	14q31.3	2011-07-04	2002-08-29		ENSG00000183648	ENSG00000183648	4707	4707		Mitochondrial respiratory chain complex / Complex I	7695	protein-coding gene	gene with protein product	complex I MNLL subunit	603837	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1 (7kD, MNLL)		NA	9763677	Standard	NM_004545	NM_004545	NA	Approved	MNLL, CI-MNLL	uc001yaf.3	O75438		ENST00000329559.3:c.54C>T	14.37:g.92588068G>A		NA	A0AV68	37	CCDS9901.1																																																																																			NDUFB1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412118.1		-	ENST00000329559.3	Silent	SNP	14 : 92588068 - 92588068 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	566	52
ADAMTS2	9509	broad.mit.edu	37	5	178553085	178553085	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178553085C>T	ENST00000251582.7	-	18	2765	c.2664G>A	c.(2662-2664)aaG>aaA	p.K888K		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	888	TSP type-1 2.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGTGTACCATCTTGTGGTCCA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	86	85			NA	NA	5		NA											NA				178553085		2203	4300	6503	SO:0001819	synonymous_variant			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116	9509	9509		ADAM metallopeptidases with thrombospondin type 1 motif	218	protein-coding gene	gene with protein product	procollagen I N-proteinase, procollagen N-endopeptidase	604539	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2		NA	10094461, 15373769	Standard	NM_014244	NM_014244	NA	Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2664G>A	5.37:g.178553085C>T		NA		37	CCDS4444.1																																																																																			ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253507.1		-	ENST00000251582.7	Silent	SNP	5 : 178553085 - 178553085 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1021	159
PEAK1	79834	broad.mit.edu	37	15	77407411	77407411	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77407411G>A	ENST00000560626.2	-	7	4803	c.4328C>T	c.(4327-4329)tCc>tTc	p.S1443F	PEAK1_ENST00000312493.4_Missense_Mutation_p.S1443F			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1443	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				NA						CTCTTTCTGGGATGATGCTGC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	147	149			NA	NA	15		NA											NA				77407411		2043	4190	6233	SO:0001583	missense				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517	79834	79834			29431	protein-coding gene	gene with protein product		614248			NA	16879967, 20534451	Standard		NM_024776	NA	Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.4328C>T	15.37:g.77407411G>A	ENSP00000452796:p.Ser1443Phe	NA	Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	37	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108844	0.37242	.	.	ENSG00000173517	ENST00000312493	T	0.69806	-0.43	4.81	4.81	0.61882	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.484267	0.17181	U	0.183874	T	0.56992	0.2023	N	0.08118	0	0.37053	D	0.897708	D	0.56287	0.975	P	0.48334	0.574	T	0.70270	-0.4918	10	0.66056	D	0.02	-6.4132	18.2658	0.90052	0.0:0.0:1.0:0.0	.	1443	Q9H792	PEAK1_HUMAN	F	1443	ENSP00000309230:S1443F	ENSP00000309230:S1443F	S	-	2	0	AC087465.1	75194466	0.979000	0.34478	0.999000	0.59377	0.114000	0.19823	4.304000	0.59104	2.417000	0.82017	0.561000	0.74099	TCC	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419483.3		-	ENST00000560626.2	Missense_Mutation	SNP	15 : 77407411 - 77407411 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	946	165
INSIG1	3638	broad.mit.edu	37	7	155093360	155093360	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:155093360G>T	ENST00000342407.5	+	3	510				INSIG1_ENST00000344756.4_Intron|INSIG1_ENST00000340368.4_Missense_Mutation_p.R166L	NM_198337.2	NP_938151.1	O15503	INSI1_HUMAN	insulin induced gene 1	NA					cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTGTCATGCGCTGCATAGCA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													200	175	184			NA	NA	7		NA											NA				155093360		2203	4300	6503	SO:0001627	intron_variant				CCDS5938.1, CCDS5939.1	7q36	2008-07-18			ENSG00000186480	ENSG00000186480	3638	3638			6083	protein-coding gene	gene with protein product	INSIG-1 membrane protein	602055			NA	9268630	Standard	NM_198336	NM_005542	NA	Approved	CL-6, MGC1405	uc003wly.3	O15503	OTTHUMG00000151330	ENST00000342407.5:c.413-1097G>T	7.37:g.155093360G>T		NA	A8K6L0|Q53XW8|Q9BUV5	37	CCDS5939.1	.	.	.	.	.	.	.	.	.	.	G	36	5.646578	0.96704	.	.	ENSG00000186480	ENST00000340368	T	0.57595	0.39	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.72827	0.3509	M	0.75447	2.3	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.73975	-0.3813	10	0.51188	T	0.08	.	18.8026	0.92023	0.0:0.0:1.0:0.0	.	166	O15503	INSI1_HUMAN	L	166	ENSP00000344741:R166L	ENSP00000344741:R166L	R	+	2	0	INSIG1	154724293	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	9.451000	0.97610	2.602000	0.87976	0.655000	0.94253	CGC	INSIG1-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322246.3		+	ENST00000342407.5	Intron	SNP	7 : 155093360 - 155093360 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	602	140
LDHB	3945	broad.mit.edu	37	12	21795006	21795006	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21795006C>T	ENST00000396076.1	-	5	807	c.475G>A	c.(475-477)Gtg>Atg	p.V159M	LDHB_ENST00000350669.1_Missense_Mutation_p.V159M	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	159					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26					NADH(DB00157)	CTTCCAATCACGCGGTGTTTG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	98	101			NA	NA	12		NA											NA				21795006		2203	4300	6503	SO:0001583	missense				CCDS8691.1	12p12.2-p12.1	2012-10-02			ENSG00000111716	ENSG00000111716	3945	3945	1.1.1.27		6541	protein-coding gene	gene with protein product		150100			NA		Standard	NM_002300	NM_002300	NA	Approved		uc001rfe.3	P07195	OTTHUMG00000133760	ENST00000396076.1:c.475G>A	12.37:g.21795006C>T	ENSP00000379386:p.Val159Met	NA		37	CCDS8691.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516070	0.85495	.	.	ENSG00000111716	ENST00000396076;ENST00000350669;ENST00000396075	D;D;D	0.92911	-3.13;-3.13;-3.13	5.67	5.67	0.87782	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.054730	0.64402	D	0.000001	D	0.95971	0.8688	H	0.98048	4.135	0.80722	D	1	P	0.49358	0.923	P	0.47402	0.546	D	0.96827	0.9608	10	0.87932	D	0	.	13.0855	0.59138	0.0:0.9268:0.0:0.0732	.	159	P07195	LDHB_HUMAN	M	159	ENSP00000379386:V159M;ENSP00000229319:V159M;ENSP00000379385:V159M	ENSP00000229319:V159M	V	-	1	0	LDHB	21686273	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.076000	0.71267	2.679000	0.91253	0.644000	0.83932	GTG	LDHB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258220.2		-	ENST00000396076.1	Missense_Mutation	SNP	12 : 21795006 - 21795006 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	491	91
MAPK7	5598	broad.mit.edu	37	17	19284985	19284985	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19284985G>T	ENST00000308406.5	+	4	1849	c.1463G>T	c.(1462-1464)aGg>aTg	p.R488M	MAPK7_ENST00000395604.3_Missense_Mutation_p.R488M|MAPK7_ENST00000299612.7_Missense_Mutation_p.R349M|MAPK7_ENST00000395602.4_Missense_Mutation_p.R488M|MAPK7_ENST00000571657.1_Intron	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	488	May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).|Pro-rich.				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|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	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					AAGTCTTTGAGGAGCCGGCTC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	29	28			NA	NA	17		NA											NA				19284985		2203	4300	6503	SO:0001583	missense			U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	5598	5598	2.7.11.24	Mitogen-activated protein kinase cascade / Kinases	6880	protein-coding gene	gene with protein product	BMK1 kinase, extracellular-signal-regulated kinase 5	602521		PRKM7	NA	10072598, 7759517	Standard	NM_139033	NM_139032	NA	Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.1463G>T	17.37:g.19284985G>T	ENSP00000311005:p.Arg488Met	NA	Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	37	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	G	8.355	0.831813	0.16820	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;T;T;T	0.76839	-0.76;-1.05;-0.76;-0.76	4.25	3.28	0.37604	.	0.054356	0.64402	D	0.000001	T	0.80660	0.4665	L	0.40543	1.245	0.36651	D	0.877375	D	0.76494	0.999	D	0.74674	0.984	T	0.81874	-0.0732	10	0.44086	T	0.13	-18.1555	10.0352	0.42125	0.0997:0.0:0.9003:0.0	.	488	Q13164	MK07_HUMAN	M	488;349;488;488	ENSP00000311005:R488M;ENSP00000299612:R349M;ENSP00000378968:R488M;ENSP00000378966:R488M	ENSP00000299612:R349M	R	+	2	0	MAPK7	19225578	1.000000	0.71417	0.399000	0.26333	0.027000	0.11550	2.565000	0.45939	1.011000	0.39340	-0.254000	0.11334	AGG	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132506.1		+	ENST00000308406.5	Missense_Mutation	SNP	17 : 19284985 - 19284985 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	158	27
GAL3ST3	89792	broad.mit.edu	37	11	65811009	65811009	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65811009G>A	ENST00000312006.4	-	3	546	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.R89C	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	89					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						AGGTTGTGGCGCTCGGCAAAG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	26	27			NA	NA	11		NA											NA				65811009		2201	4295	6496	SO:0001583	missense			AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229	89792	89792		Sulfotransferases, membrane-bound	24144	protein-coding gene	gene with protein product		608234			NA	11323440, 11356829	Standard	NM_033036	NM_033036	NA	Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.265C>T	11.37:g.65811009G>A	ENSP00000308591:p.Arg89Cys	NA	Q14D05	37	CCDS8128.1	.	.	.	.	.	.	.	.	.	.	G	8.481	0.859821	0.17178	.	.	ENSG00000175229	ENST00000312006;ENST00000527878	D;D	0.99735	-6.58;-6.58	4.49	3.51	0.40186	.	0.151298	0.42548	D	0.000688	D	0.98947	0.9642	M	0.79011	2.435	0.50467	D	0.999871	B	0.21753	0.06	B	0.15484	0.013	D	0.99917	1.1232	10	0.66056	D	0.02	-23.8739	10.4288	0.44395	0.0:0.0:0.7013:0.2987	.	89	Q96A11	G3ST3_HUMAN	C	89	ENSP00000308591:R89C;ENSP00000434829:R89C	ENSP00000308591:R89C	R	-	1	0	GAL3ST3	65567585	1.000000	0.71417	1.000000	0.80357	0.304000	0.27724	2.107000	0.41844	2.213000	0.71641	0.462000	0.41574	CGC	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391052.1		-	ENST00000312006.4	Missense_Mutation	SNP	11 : 65811009 - 65811009 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	242	22
STRN	6801	broad.mit.edu	37	2	37082439	37082439	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37082439C>T	ENST00000263918.4	-	15	1902	c.1894G>A	c.(1894-1896)Gca>Aca	p.A632T	STRN_ENST00000379213.2_Missense_Mutation_p.A583T	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	632					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				CTGAATGATGCTACCATATGG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	140	149			NA	NA	2		NA											NA				37082439		2203	4300	6503	SO:0001583	missense			AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808	6801	6801		WD repeat domain containing	11424	protein-coding gene	gene with protein product		614765	striatin, calmodulin-binding protein		NA	9693043, 8769426	Standard		NM_003162	NA	Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.1894G>A	2.37:g.37082439C>T	ENSP00000263918:p.Ala632Thr	NA	Q3KP65|Q53TQ8|Q9NP38	37	CCDS1784.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213098	0.39102	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	T;T	0.26810	1.71;1.71	5.21	3.4	0.38934	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.172324	0.53938	D	0.000053	T	0.16599	0.0399	N	0.26092	0.79	0.48040	D	0.999572	B;B	0.19817	0.028;0.039	B;B	0.20577	0.03;0.027	T	0.06232	-1.0838	10	0.15952	T	0.53	-14.2069	11.193	0.48696	0.0:0.8504:0.0:0.1496	.	583;632	O43815-2;O43815	.;STRN_HUMAN	T	632;607;583	ENSP00000263918:A632T;ENSP00000368513:A583T	ENSP00000263918:A632T	A	-	1	0	STRN	36935943	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	1.429000	0.34903	0.577000	0.29470	0.591000	0.81541	GCA	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000218568.1		-	ENST00000263918.4	Missense_Mutation	SNP	2 : 37082439 - 37082439 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	278	49
CUBN	8029	broad.mit.edu	37	10	16877137	16877137	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16877137T>G	ENST00000377833.4	-	64	10303	c.10238A>C	c.(10237-10239)gAt>gCt	p.D3413A		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3413	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTCGTAGTTATCTGGCCATCC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	142	150			NA	NA	10		NA											NA				16877137		2203	4300	6503	SO:0001583	missense			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611	8029	8029			2548	protein-coding gene	gene with protein product		602997		MGA1	NA	9572993, 9478979	Standard	NM_001081	NM_001081	NA	Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10238A>C	10.37:g.16877137T>G	ENSP00000367064:p.Asp3413Ala	NA	B0YIZ4|Q5VTA6|Q96RU9	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	T	5.530	0.282625	0.10458	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.35048	1.33	4.84	-0.549	0.11829	CUB (5);	0.695101	0.12395	N	0.472617	T	0.21550	0.0519	N	0.21282	0.65	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.18999	-1.0319	10	0.56958	D	0.05	.	6.1158	0.20126	0.0:0.3293:0.1301:0.5406	.	3413	O60494	CUBN_HUMAN	A	3413;254	ENSP00000367064:D3413A	ENSP00000367064:D3413A	D	-	2	0	CUBN	16917143	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.440000	0.21592	-0.251000	0.09542	-0.361000	0.07541	GAT	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047009.1		-	ENST00000377833.4	Missense_Mutation	SNP	10 : 16877137 - 16877137 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	486	86
DCLRE1B	64858	broad.mit.edu	37	1	114448377	114448377	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114448377C>T	ENST00000369563.3	+	1	615	c.169C>T	c.(169-171)Ctc>Ttc	p.L57F	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	57					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACAGCCCACCTCTTGCATCG	0.587		NA						Other identified genes with known or suspected DNA repair function			OREG0004772	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	48	48			NA	NA	1		NA											NA				114448377		2203	4300	6503	SO:0001583	missense			BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655	64858	64858			17641	protein-coding gene	gene with protein product	APOLLO, PSO2 homolog (S. cerevisiae)	609683	DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)		NA		Standard	NM_022836	NM_022836	NA	Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.169C>T	1.37:g.114448377C>T	ENSP00000358576:p.Leu57Phe	1458	Q9H9E5	37	CCDS866.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874689	0.91664	.	.	ENSG00000118655	ENST00000369563	T	0.77750	-1.12	5.56	5.56	0.83823	Beta-lactamase-like (1);	0.059585	0.64402	D	0.000002	D	0.85725	0.5763	M	0.84846	2.72	0.51767	D	0.999937	D	0.89917	1.0	D	0.77557	0.99	D	0.87258	0.2277	10	0.62326	D	0.03	-20.3906	10.9353	0.47241	0.1448:0.7154:0.1397:0.0	.	57	Q9H816	DCR1B_HUMAN	F	57	ENSP00000358576:L57F	ENSP00000358576:L57F	L	+	1	0	DCLRE1B	114249900	0.895000	0.30542	0.998000	0.56505	0.891000	0.51852	1.808000	0.38912	2.609000	0.88269	0.561000	0.74099	CTC	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033020.2		+	ENST00000369563.3	Missense_Mutation	SNP	1 : 114448377 - 114448377 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	54
MICAL1	64780	broad.mit.edu	37	6	109768629	109768629	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109768629G>A	ENST00000358807.3	-	16	2312	c.2001C>T	c.(1999-2001)acC>acT	p.T667T	MICAL1_ENST00000368952.4_Silent_p.T686T|MICAL1_ENST00000358577.3_Silent_p.T581T	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	667					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CAGTACTTGGGGTCTCGGCCT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	67	68			NA	NA	6		NA											NA				109768629		2203	4300	6503	SO:0001819	synonymous_variant			AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596	64780	64780			20619	protein-coding gene	gene with protein product		607129	NEDD9 interacting protein with calponin homology and LIM domains	NICAL	NA	11827972	Standard	NM_022765	NM_022765	NA	Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2001C>T	6.37:g.109768629G>A		NA	E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	37	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	G	3.365	-0.129682	0.06753	.	.	ENSG00000135596	ENST00000433205	.	.	.	5.59	-2.28	0.06826	.	.	.	.	.	T	0.09379	0.0231	.	.	.	0.19300	N	0.999976	.	.	.	.	.	.	T	0.36456	-0.9747	4	.	.	.	.	5.426	0.16425	0.5946:0.0:0.2594:0.1461	.	.	.	.	S	229	.	.	P	-	1	0	MICAL1	109875322	0.001000	0.12720	0.004000	0.12327	0.604000	0.37047	-0.429000	0.06982	-0.253000	0.09514	-0.169000	0.13324	CCC	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041759.2		-	ENST00000358807.3	Silent	SNP	6 : 109768629 - 109768629 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	280	19
GRM5	2915	broad.mit.edu	37	11	88242512	88242512	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88242512C>T	ENST00000305447.4	-	9	3036	c.2887G>A	c.(2887-2889)Gct>Act	p.A963T	GRM5_ENST00000305432.5_Missense_Mutation_p.A931T|GRM5_ENST00000393297.1_Intron|GRM5_ENST00000418177.2_Missense_Mutation_p.A963T|GRM5_ENST00000455756.2_Missense_Mutation_p.A931T|GRM5-AS1_ENST00000526448.1_RNA	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	963					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CCAGCGCCAGCGCCCAGGCCA	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	17	16			NA	NA	11		NA											NA				88242512		1999	3959	5958	SO:0001583	missense			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959	2915	2915		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4597	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 86	604102			NA	7908515	Standard	NM_000842	NM_001143831	NA	Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2887G>A	11.37:g.88242512C>T	ENSP00000306138:p.Ala963Thr	NA		37	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	C	3.302	-0.142761	0.06669	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447	D;D;D;D	0.87966	-2.29;-2.32;-2.32;-2.29	3.95	2.03	0.26663	.	.	.	.	.	T	0.68174	0.2972	N	0.08118	0	0.09310	N	1	B;B	0.28208	0.005;0.203	B;B	0.15052	0.002;0.012	T	0.55335	-0.8157	8	.	.	.	.	4.7756	0.13178	0.2113:0.6773:0.0:0.1114	.	931;963	P41594-2;P41594	.;GRM5_HUMAN	T	963;931;931;963	ENSP00000402912:A963T;ENSP00000405690:A931T;ENSP00000305905:A931T;ENSP00000306138:A963T	.	A	-	1	0	GRM5	87882160	.	.	0.110000	0.21437	0.016000	0.09150	.	.	0.600000	0.29862	0.563000	0.77884	GCT	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000259226.1		-	ENST00000305447.4	Missense_Mutation	SNP	11 : 88242512 - 88242512 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	222	41
SYNE1	23345	broad.mit.edu	37	6	152706910	152706910	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152706910C>T	ENST00000367255.5	-	55	9152	c.8551G>A	c.(8551-8553)Gag>Aag	p.E2851K	SYNE1_ENST00000423061.1_Missense_Mutation_p.E2858K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E2890K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2858K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2851K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2851					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTGTGAACTCGTGGACCGCA	0.393		NA								HNSCC(10;0.0054)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	189	177	181		8572,8551	5.5	0.8	6		181	0,8600		0,0,4300	no	missense,missense	SYNE1	NM_033071.3,NM_182961.3	56,56	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging	2858/8750,2851/8798	152706910	1,13005	2203	4300	6503	SO:0001583	missense			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018	23345	23345			17089	protein-coding gene	gene with protein product	myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1	608441	chromosome 6 open reading frame 98	C6orf98	NA	9872452, 10878022	Standard	NM_182961	NM_182961	NA	Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.8551G>A	6.37:g.152706910C>T	ENSP00000356224:p.Glu2851Lys	NA	O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	15.98	2.991900	0.54041	2.27E-4	0.0	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.56941	0.52;0.51;0.43;0.52;0.62	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000005	T	0.62744	0.2453	M	0.70595	2.14	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	P;D;D;D	0.69479	0.883;0.922;0.922;0.964	T	0.56390	-0.7987	10	0.15952	T	0.53	.	19.4115	0.94675	0.0:1.0:0.0:0.0	.	2834;2851;2851;2858	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	K	2851;2858;2851;2858;2890	ENSP00000356224:E2851K;ENSP00000396024:E2858K;ENSP00000265368:E2851K;ENSP00000390975:E2858K;ENSP00000341887:E2890K	ENSP00000265368:E2851K	E	-	1	0	SYNE1	152748603	1.000000	0.71417	0.840000	0.33206	0.050000	0.14768	7.463000	0.80869	2.599000	0.87857	0.591000	0.81541	GAG	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334755.2		-	ENST00000367255.5	Missense_Mutation	SNP	6 : 152706910 - 152706910 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	600	114
ZFPL1	7542	broad.mit.edu	37	11	64855532	64855532	+	Silent	SNP	C	C	T	rs143603280		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64855532C>T	ENST00000294258.3	+	8	1031	c.879C>T	c.(877-879)agC>agT	p.S293S		NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	293					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						CAGCTGACAGCGATCCCAACC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4402		0,0,2201	90	88	89		879	-2.1	1	11	dbSNP_134	89	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	ZFPL1	NM_006782.3		0,1,6497	TT,TC,CC	NA	0.0116,0.0,0.0077		293/311	64855532	1,12995	2201	4297	6498	SO:0001819	synonymous_variant				CCDS8092.1	11q13	2013-01-08			ENSG00000162300	ENSG00000162300	7542	7542			12868	protein-coding gene	gene with protein product	zinc-finger protein in MEN1 region				NA	9653652	Standard	NM_006782	NM_006782	NA	Approved	D11S750, MCG4	uc001ocq.1	O95159	OTTHUMG00000165597	ENST00000294258.3:c.879C>T	11.37:g.64855532C>T		NA	A8K7E9|O14616|Q9UID0	37	CCDS8092.1																																																																																			ZFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385196.1		+	ENST00000294258.3	Silent	SNP	11 : 64855532 - 64855532 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1030	163
SMAD9	4093	broad.mit.edu	37	13	37453838	37453838	+	Translation_Start_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37453838G>T	ENST00000350148.5	-	0	297				SMAD9_ENST00000379826.4_De_novo_Start_InFrame|SMAD9_ENST00000483941.1_5'UTR|SMAD9_ENST00000399275.2_De_novo_Start_InFrame	NM_005905.5	NP_005896.1	O15198	SMAD9_HUMAN	SMAD family member 9	NA					BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		AGAGGCCACAGCAGGCTCCGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	39	38			NA	NA	13		NA											NA				37453838		2203	4300	6503						CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693	4093	4093		SMADs	6774	protein-coding gene	gene with protein product		603295	MAD, mothers against decapentaplegic homolog 9 (Drosophila), SMAD, mothers against DPP homolog 9 (Drosophila)	MADH6, MADH9	NA	9205116	Standard	NM_005905	NM_001127217	NA	Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000350148.5:	13.37:g.37453838G>T		NA	A2A2Y6|O14989|Q5TBA1	37	CCDS9360.1																																																																																			SMAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044526.2		-	ENST00000350148.5	De_novo_Start_InFrame	SNP	13 : 37453838 - 37453838 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	412	70
MUC3A	4584	broad.mit.edu	37	7	100549596	100549596	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100549596T>C	ENST00000483366.1	+	0	247				MUC3A_ENST00000379458.4_Silent_p.G59G					mucin 3A, cell surface associated	NA										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GGCCACTTGGTGTCCCCCAGC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	146	147			NA	NA	7		NA											NA				100549596		876	1991	2867	SO:0001624	3_prime_UTR_variant			AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894	4584	4584		Mucins	7513	protein-coding gene	gene with protein product		158371	mucin 3A, intestinal	MUC3	NA	2393399, 10973822	Standard	XM_001725354	XM_006710192	NA	Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000483366.1:c.*244T>C	7.37:g.100549596T>C		NA		37																																																																																				MUC3A-006	KNOWN	basic	processed_transcript	NA	protein_coding	OTTHUMT00000347220.1		+	ENST00000483366.1	3'UTR	SNP	7 : 100549596 - 100549596 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	715	121
ZNF500	26048	broad.mit.edu	37	16	4815977	4815977	+	Translation_Start_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4815977C>T	ENST00000545009.1	-	2	300	c.3G>A	c.(1-3)atG>atA	p.M1I	ZNF500_ENST00000219478.6_Start_Codon_SNP_p.M1I	NM_021646.1	NP_067678.1	O60304	ZN500_HUMAN	zinc finger protein 500	1					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						GGACAGTGGCCATTGCTTCCG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	50	51			NA	NA	16		NA											NA				4815977		2197	4300	6497	SO:0001582	initiator_codon_variant			AB011129	CCDS32383.1	16p13.3	2013-01-09				ENSG00000103199	26048	26048		Zinc fingers, C2H2-type, -, -, -	23716	protein-coding gene	gene with protein product					NA	9628581	Standard	XM_085507	XM_005255243	NA	Approved	ZKSCAN18, KIAA0557, ZSCAN50	uc002cxp.1	O60304		ENST00000545009.1:c.3G>A	16.37:g.4815977C>T	ENSP00000445714:p.Met1Ile	NA	A8K6X7|Q0VAL2|Q96CQ8|Q9BTG0	37		.	.	.	.	.	.	.	.	.	.	C	15.46	2.839663	0.51057	.	.	ENSG00000103199	ENST00000545009;ENST00000219478	T;T	0.05649	3.48;3.41	3.78	3.78	0.43462	.	.	.	.	.	T	0.20088	0.0483	.	.	.	0.80722	D	1	D;D	0.57899	0.981;0.981	D;D	0.65140	0.932;0.932	T	0.00498	-1.1704	8	0.72032	D	0.01	.	11.156	0.48489	0.0:1.0:0.0:0.0	.	1;1	B4DNN9;O60304	.;ZN500_HUMAN	I	1	ENSP00000445714:M1I;ENSP00000219478:M1I	ENSP00000219478:M1I	M	-	3	0	ZNF500	4755978	0.999000	0.42202	0.644000	0.29465	0.034000	0.12701	1.726000	0.38085	1.677000	0.50941	0.655000	0.94253	ATG	ZNF500-008	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000460401.1	Missense_Mutation	-	ENST00000545009.1	Start_Codon_SNP	SNP	16 : 4815977 - 4815977 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	451	86
GSE1	23199	broad.mit.edu	37	16	85698636	85698636	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85698636T>C	ENST00000253458.7	+	12	2836	c.2660T>C	c.(2659-2661)gTt>gCt	p.V887A	GSE1_ENST00000405402.2_Missense_Mutation_p.V783A|GSE1_ENST00000393243.1_Missense_Mutation_p.V814A	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein	NA											NA						GAGAGACTTGTTGAAATGCTC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	67	68			NA	NA	16		NA											NA				85698636		2198	4300	6498	SO:0001583	missense			D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149	23199	23199			28979	protein-coding gene	gene with protein product	genetic suppressor element 1		KIAA0182, Gse1 coiled-coil protein homolog (mouse)	KIAA0182	NA	8724849, 8786132	Standard	NM_014615	NM_014615	NA	Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.2660T>C	16.37:g.85698636T>C	ENSP00000253458:p.Val887Ala	NA		37	CCDS10952.1	.	.	.	.	.	.	.	.	.	.	T	16.00	2.997779	0.54147	.	.	ENSG00000131149	ENST00000405402;ENST00000253458;ENST00000393243	T;T;T	0.31510	1.5;1.5;1.49	5.16	5.16	0.70880	.	0.278283	0.33959	N	0.004398	T	0.35098	0.0920	N	0.19112	0.55	0.36892	D	0.889952	P;D;D	0.65815	0.951;0.995;0.991	P;D;P	0.63033	0.598;0.91;0.815	T	0.24261	-1.0165	10	0.15499	T	0.54	-5.8079	14.6756	0.68978	0.0:0.0:0.0:1.0	.	650;814;887	Q59GZ0;Q14687-3;Q14687	.;.;GSE1_HUMAN	A	783;887;814	ENSP00000384839:V783A;ENSP00000253458:V887A;ENSP00000376934:V814A	ENSP00000253458:V887A	V	+	2	0	KIAA0182	84256137	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.365000	0.59486	1.960000	0.56953	0.459000	0.35465	GTT	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325527.1		+	ENST00000253458.7	Missense_Mutation	SNP	16 : 85698636 - 85698636 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	278	12
PLXNA2	5362	broad.mit.edu	37	1	208383704	208383704	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208383704C>T	ENST00000367033.3	-	3	2049	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	431	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AGAGGTCATGCGGTCCCTGCT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	86	97			NA	NA	1		NA											NA				208383704		2203	4300	6503	SO:0001583	missense			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356	5362	5362		Plexins	9100	protein-coding gene	gene with protein product	plexin 2, plexin-A2, semaphorin receptor OCT, transmembrane protein OCT	601054		PLXN2	NA	8570614	Standard	NM_025179	NM_025179	NA	Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.1292G>A	1.37:g.208383704C>T	ENSP00000356000:p.Arg431His	NA	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	37	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254088	0.80135	.	.	ENSG00000076356	ENST00000367033	T	0.12672	2.66	5.63	5.63	0.86233	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.33760	0.0874	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	0.998;1.0	P;P	0.62491	0.814;0.903	T	0.01390	-1.1367	10	0.21014	T	0.42	.	19.7096	0.96089	0.0:1.0:0.0:0.0	.	485;431	O75051-2;O75051	.;PLXA2_HUMAN	H	431	ENSP00000356000:R431H	ENSP00000356000:R431H	R	-	2	0	PLXNA2	206450327	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.817000	0.69229	2.652000	0.90054	0.655000	0.94253	CGC	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088932.6		-	ENST00000367033.3	Missense_Mutation	SNP	1 : 208383704 - 208383704 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	236	42
ZSCAN10	84891	broad.mit.edu	37	16	3139531	3139531	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3139531C>T	ENST00000252463.2	-	5	1826	c.1739G>A	c.(1738-1740)cGc>cAc	p.R580H	ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R241H|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R498H	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	580					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CTCGCTGCAGCGGCAGGGCTT	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	14	13			NA	NA	16		NA											NA				3139531		2186	4268	6454	SO:0001583	missense			AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182	84891	84891		-, Zinc fingers, C2H2-type	12997	protein-coding gene	gene with protein product			zinc finger protein 206	ZNF206	NA	9653642	Standard	NM_032805	NM_032805	NA	Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.1739G>A	16.37:g.3139531C>T	ENSP00000252463:p.Arg580His	NA	B3KQD3	37	CCDS10493.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.894870	0.52121	.	.	ENSG00000130182	ENST00000538082;ENST00000252463	T	0.37411	1.2	5.34	5.34	0.76211	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.136846	0.34067	N	0.004290	T	0.40040	0.1101	N	0.16708	0.43	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;P	0.63703	0.917;0.916;0.877	T	0.33879	-0.9851	10	0.62326	D	0.03	-34.0564	11.6059	0.51031	0.1779:0.8221:0.0:0.0	.	241;513;580	Q96SZ4-2;Q1WWM2;Q96SZ4	.;.;ZSC10_HUMAN	H	513;580	ENSP00000252463:R580H	ENSP00000252463:R580H	R	-	2	0	ZSCAN10	3079532	0.000000	0.05858	1.000000	0.80357	0.900000	0.52787	-1.643000	0.02004	2.504000	0.84457	0.561000	0.74099	CGC	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437124.2		-	ENST00000252463.2	Missense_Mutation	SNP	16 : 3139531 - 3139531 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	176	30
PIGG	54872	broad.mit.edu	37	4	524230	524230	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:524230T>G	ENST00000453061.2	+	11	2373	c.2267T>G	c.(2266-2268)aTt>aGt	p.I756S	PIGG_ENST00000504346.1_Missense_Mutation_p.I667S|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.I623S|PIGG_ENST00000310340.5_Missense_Mutation_p.I748S	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	756					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TTTAGGGGTATTATTGAAGCT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	100	100			NA	NA	4		NA											NA				524230		2203	4300	6503	SO:0001583	missense				CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227	54872	54872		Phosphatidylinositol glycan anchor biosynthesis	25985	protein-coding gene	gene with protein product			phosphatidylinositol glycan, class G		NA	15632136	Standard	NM_017733	XM_005272287	NA	Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.2267T>G	4.37:g.524230T>G	ENSP00000415203:p.Ile756Ser	NA	Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	37	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	T	17.41	3.381845	0.61845	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028	T;T;T;T	0.12569	2.99;2.99;2.67;2.67	5.62	5.62	0.85841	.	0.143965	0.64402	D	0.000007	T	0.18341	0.0440	M	0.65975	2.015	0.80722	D	1	P;P;P	0.43973	0.702;0.729;0.823	B;B;B	0.42495	0.294;0.218;0.389	T	0.05099	-1.0906	10	0.16420	T	0.52	-14.3867	14.0652	0.64824	0.0:0.0:0.0:1.0	.	623;756;748	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	S	748;756;667;623	ENSP00000311750:I748S;ENSP00000415203:I756S;ENSP00000424800:I667S;ENSP00000372494:I623S	ENSP00000311750:I748S	I	+	2	0	PIGG	514230	1.000000	0.71417	0.027000	0.17364	0.974000	0.67602	5.364000	0.66110	2.263000	0.75096	0.533000	0.62120	ATT	PIGG-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357494.1		+	ENST00000453061.2	Missense_Mutation	SNP	4 : 524230 - 524230 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	512	78
MLLT4	4301	broad.mit.edu	37	6	168299002	168299002	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168299002G>T	ENST00000400822.3	+	11	1432	c.1432G>T	c.(1432-1434)Gaa>Taa	p.E478*	MLLT4_ENST00000392108.3_Nonsense_Mutation_p.E479*|MLLT4_ENST00000392112.1_Nonsense_Mutation_p.E463*|MLLT4_ENST00000366806.2_Nonsense_Mutation_p.E479*|MLLT4_ENST00000351017.4_Nonsense_Mutation_p.E479*|MLLT4_ENST00000447894.2_Nonsense_Mutation_p.E479*|MLLT4_ENST00000344191.4_Nonsense_Mutation_p.E479*			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	479	FHA.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GCGCATCTCAGAAACCACCAT	0.517		NA	T	MLL	AL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		6	6q27	4301	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)		L	0													99	84	89			NA	NA	6		NA											NA				168299002		2203	4300	6503	SO:0001587	stop_gained			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396	4301	4301			7137	protein-coding gene	gene with protein product		159559	myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4		NA	8242616	Standard	NM_005936	NM_001040000	NA	Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000400822.3:c.1432G>T	6.37:g.168299002G>T	ENSP00000383623:p.Glu478*	NA	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.003798|8.003798	0.98605|0.98605	.|.	.|.	ENSG00000130396|ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894|ENST00000423229	.|.	.|.	.|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.052104|.	0.85682|.	D|.	0.000000|.	.|T	.|0.71281	.|0.3321	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69427	.|-0.5148	.|3	0.52906|.	T|.	0.07|.	-39.2566|-39.2566	19.5218|19.5218	0.95187|0.95187	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	479;479;479;479;463;479;478;479|177	.|.	ENSP00000345834:E479X|.	E|R	+|+	1|2	0|0	MLLT4|MLLT4	168041851|168041851	1.000000|1.000000	0.71417|0.71417	0.941000|0.941000	0.38009|0.38009	0.919000|0.919000	0.55068|0.55068	9.607000|9.607000	0.98328|0.98328	2.609000|2.609000	0.88269|0.88269	0.650000|0.650000	0.86243|0.86243	GAA|AGA	MLLT4-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000043150.2		+	ENST00000400822.3	Nonsense_Mutation	SNP	6 : 168299002 - 168299002 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	239	14
BAI2	576	broad.mit.edu	37	1	32207538	32207538	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32207538G>A	ENST00000373658.3	-	9	1789	c.1448C>T	c.(1447-1449)gCg>gTg	p.A483V	BAI2_ENST00000257070.4_Missense_Mutation_p.A483V|BAI2_ENST00000398556.3_Missense_Mutation_p.A431V|BAI2_ENST00000373655.2_Missense_Mutation_p.A483V|BAI2_ENST00000440175.2_Missense_Mutation_p.A125V|BAI2_ENST00000398542.1_Missense_Mutation_p.A416V|BAI2_ENST00000398547.1_Missense_Mutation_p.A416V|BAI2_ENST00000398538.1_Missense_Mutation_p.A471V|BAI2_ENST00000527361.1_Missense_Mutation_p.A483V	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	483	TSP type-1 4.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CAGGCTCCACGCATTCCATGG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	65	65			NA	NA	1		NA											NA				32207538		2203	4300	6503	SO:0001583	missense			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753	576	576		-, GPCR / Class B : Orphans	944	protein-coding gene	gene with protein product		602683			NA	9533023	Standard	NM_001703	XM_006710783	NA	Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.1448C>T	1.37:g.32207538G>A	ENSP00000362762:p.Ala483Val	NA	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	37	CCDS346.2	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171248	0.38315	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58	4.95	4.95	0.65309	.	0.000000	0.38778	N	0.001572	T	0.49558	0.1564	L	0.39566	1.225	0.09310	N	1	B;P;B;B;B;D;B	0.53885	0.386;0.544;0.334;0.16;0.386;0.963;0.386	B;B;B;B;B;P;B	0.50049	0.104;0.1;0.038;0.028;0.064;0.629;0.104	T	0.41305	-0.9516	10	0.26408	T	0.33	.	11.1636	0.48531	0.0:0.0:0.7045:0.2955	.	416;483;471;125;416;483;483	A2A3C3;O60241-4;O60241-3;B4DKC3;A2A3C1;O60241-2;O60241	.;.;.;.;.;.;BAI2_HUMAN	V	431;416;483;483;416;483;483;125;471;421;462	ENSP00000381564:A431V;ENSP00000381555:A416V;ENSP00000362762:A483V;ENSP00000362759:A483V;ENSP00000381550:A416V;ENSP00000257070:A483V;ENSP00000435397:A483V;ENSP00000391071:A125V;ENSP00000381548:A471V;ENSP00000410921:A421V;ENSP00000437219:A462V	ENSP00000257070:A483V	A	-	2	0	BAI2	31980125	0.306000	0.24490	0.009000	0.14445	0.950000	0.60333	2.883000	0.48554	2.457000	0.83068	0.561000	0.74099	GCG	BAI2-015	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381838.1		-	ENST00000373658.3	Missense_Mutation	SNP	1 : 32207538 - 32207538 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	413	75
TM9SF1	10548	broad.mit.edu	37	14	24658926	24658926	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24658926C>T	ENST00000530611.1	-	10	2176	c.2143G>A	c.(2143-2145)Gcc>Acc	p.A715T	RP11-468E2.2_ENST00000561419.1_Silent_p.S42S|TM9SF1_ENST00000556387.1_Missense_Mutation_p.A715T|TM9SF1_ENST00000261789.4_Missense_Mutation_p.A506T|TM9SF1_ENST00000524835.1_Missense_Mutation_p.A419T|TM9SF1_ENST00000528669.1_Missense_Mutation_p.A489T			O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	506					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		AGCAGGATGGCGAAGACAAAG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	108	111			NA	NA	14		NA											NA				24658926		2203	4300	6503	SO:0001583	missense			U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926	10548	10548			11864	protein-coding gene	gene with protein product					NA	9332367	Standard	NM_006405	NM_006405	NA	Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000530611.1:c.2143G>A	14.37:g.24658926C>T	ENSP00000433967:p.Ala715Thr	NA	D3DS65|Q96FI8	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.189563|4.189563	0.78789|0.78789	.|.	.|.	ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000254692|ENSG00000100926	ENST00000261789;ENST00000528669;ENST00000556387;ENST00000524835;ENST00000530611|ENST00000532632	T;T;T;T;T|T	0.43294|0.54866	0.95;0.95;0.95;0.95;0.95|0.55	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.44912|0.44912	0.1316|0.1316	N|N	0.05050|0.05050	-0.12|-0.12	0.80722|0.80722	D|D	1|1	B|.	0.32203|.	0.36|.	B|.	0.26416|.	0.069|.	T|T	0.54282|0.54282	-0.8317|-0.8317	10|7	0.59425|0.87932	D|D	0.04|0	-13.9922|-13.9922	17.2626|17.2626	0.87075|0.87075	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	506|.	O15321|.	TM9S1_HUMAN|.	T|H	506;489;715;419;715|73	ENSP00000261789:A506T;ENSP00000432997:A489T;ENSP00000451949:A715T;ENSP00000434387:A419T;ENSP00000433967:A715T|ENSP00000436486:R73H	ENSP00000433967:A715T|ENSP00000436486:R73H	A|R	-|-	1|2	0|0	TM9SF1;RP11-468E2.1|TM9SF1	23728766|23728766	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.374000|6.374000	0.73132|0.73132	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCC|CGC	TM9SF1-001	PUTATIVE	basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000392565.1		-	ENST00000530611.1	Missense_Mutation	SNP	14 : 24658926 - 24658926 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	483	75
TDRKH	11022	broad.mit.edu	37	1	151751711	151751711	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151751711G>A	ENST00000368822.1	-	5	1062	c.429C>T	c.(427-429)ggC>ggT	p.G143G	TDRKH_ENST00000368824.3_Silent_p.G143G|TDRKH_ENST00000458431.2_Silent_p.G143G|TDRKH_ENST00000368825.3_Intron|TDRKH_ENST00000368823.1_Silent_p.G139G|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000368827.6_Silent_p.G143G|TDRKH_ENST00000484421.1_5'UTR			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	143	KH 2.						RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTGTCTCGCCGCCTCTCCCTA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	80	82			NA	NA	1		NA											NA				151751711		1856	4088	5944	SO:0001819	synonymous_variant			AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134	11022	11022		Tudor domain containing	11713	protein-coding gene	gene with protein product		609501	tudor and KH domain containing		NA	10767542	Standard	NM_006862	NM_001083964	NA	Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.429C>T	1.37:g.151751711G>A		NA	D3DV24|Q5SZR3|Q8N582|Q9NYV5	37	CCDS41394.1																																																																																			TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000036648.2		-	ENST00000368822.1	Silent	SNP	1 : 151751711 - 151751711 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	336	61
WDFY2	115825	broad.mit.edu	37	13	52234790	52234790	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52234790G>A	ENST00000298125.5	+	2	376	c.196G>A	c.(196-198)Gca>Aca	p.A66T		NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	66							metal ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		CGTATACCATGCAATGCCTTG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													213	177	189			NA	NA	13		NA											NA				52234790		2203	4300	6503	SO:0001583	missense			AF411978	CCDS9429.1	13q14.12	2013-01-09	2003-03-13		ENSG00000139668	ENSG00000139668	115825	115825		Zinc fingers, FYVE domain containing, WD repeat domain containing	20482	protein-coding gene	gene with protein product		610418	WD40 and FYVE domain containing 2		NA		Standard	NM_052950	NM_052950	NA	Approved	ZFYVE22	uc001vfp.3	Q96P53	OTTHUMG00000017407	ENST00000298125.5:c.196G>A	13.37:g.52234790G>A	ENSP00000298125:p.Ala66Thr	NA	B1AL86|Q96CS1	37	CCDS9429.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.283920	0.23392	.	.	ENSG00000139668	ENST00000298125	T	0.66815	-0.23	5.76	2.07	0.26955	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.604669	0.19296	N	0.117770	T	0.31231	0.0790	N	0.01109	-1.01	0.21416	N	0.999693	B	0.02656	0.0	B	0.01281	0.0	T	0.22034	-1.0228	10	0.34782	T	0.22	-0.1294	5.7799	0.18299	0.237:0.1387:0.6243:0.0	.	66	Q96P53	WDFY2_HUMAN	T	66	ENSP00000298125:A66T	ENSP00000298125:A66T	A	+	1	0	WDFY2	51132791	0.957000	0.32711	0.487000	0.27428	0.946000	0.59487	1.290000	0.33319	0.353000	0.24079	0.557000	0.71058	GCA	WDFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045985.3		+	ENST00000298125.5	Missense_Mutation	SNP	13 : 52234790 - 52234790 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	502	42
ITPKB	3707	broad.mit.edu	37	1	226835049	226835049	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226835049G>T	ENST00000272117.3	-	3	2064	c.2065C>A	c.(2065-2067)Ctg>Atg	p.L689M	ITPKB_ENST00000429204.1_Missense_Mutation_p.L689M			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	689							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TGCTTCTTCAGGATCCTGCCA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(84;110 1851 5306 33547)							NA				0													69	62	64			NA	NA	1		NA											NA				226835049		2203	4300	6503	SO:0001583	missense			AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	3707	3707	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	inositol 1,4,5-trisphosphate 3-kinase B		NA	1654894, 1330886	Standard	NM_002221	NM_002221	NA	Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.2065C>A	1.37:g.226835049G>T	ENSP00000272117:p.Leu689Met	NA	Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	37	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660264	0.67586	.	.	ENSG00000143772	ENST00000272117;ENST00000429204	T;T	0.16743	2.32;2.32	5.19	4.06	0.47325	.	0.000000	0.85682	D	0.000000	T	0.45677	0.1354	M	0.85630	2.765	0.49130	D	0.999755	D	0.89917	1.0	D	0.85130	0.997	T	0.53315	-0.8456	10	0.72032	D	0.01	-14.7074	14.6107	0.68514	0.0829:0.0:0.9171:0.0	.	689	P27987	IP3KB_HUMAN	M	689	ENSP00000272117:L689M;ENSP00000411152:L689M	ENSP00000272117:L689M	L	-	1	2	ITPKB	224901672	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.320000	0.72876	2.429000	0.82318	0.655000	0.94253	CTG	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091632.1		-	ENST00000272117.3	Missense_Mutation	SNP	1 : 226835049 - 226835049 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	186	19
SPATA2L	124044	broad.mit.edu	37	16	89764461	89764461	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89764461G>A	ENST00000289805.5	-	3	624	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	186										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		CTGGCACGCCGTGCCTGCAGC	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	13	13			NA	NA	16		NA											NA				89764461		2168	4251	6419	SO:0001583	missense			AF070574	CCDS10985.1	16q24.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000158792	ENSG00000158792	124044	124044			28393	protein-coding gene	gene with protein product			chromosome 16 open reading frame 76	C16orf76	NA	8619474	Standard	NM_152339	NM_152339	NA	Approved	MGC26885, tamo	uc002foj.3	Q8IUW3	OTTHUMG00000138047	ENST00000289805.5:c.556C>T	16.37:g.89764461G>A	ENSP00000289805:p.Arg186Trp	NA	D3DX85|Q8NHV3	37	CCDS10985.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.259451	0.59321	.	.	ENSG00000158792	ENST00000289805	.	.	.	4.72	3.72	0.42706	.	0.000000	0.64402	D	0.000001	T	0.71082	0.3298	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72802	-0.4183	9	0.87932	D	0	.	11.473	0.50280	0.0:0.0:0.8048:0.1952	.	186	Q8IUW3	SPA2L_HUMAN	W	186	.	ENSP00000289805:R186W	R	-	1	2	SPATA2L	88291962	0.081000	0.21417	0.688000	0.30117	0.605000	0.37080	0.617000	0.24359	0.887000	0.36136	0.462000	0.41574	CGG	SPATA2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269923.1		-	ENST00000289805.5	Missense_Mutation	SNP	16 : 89764461 - 89764461 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	188	27
NUP153	9972	broad.mit.edu	37	6	17688685	17688685	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17688685C>A	ENST00000262077.2	-	2	275	c.276G>T	c.(274-276)gaG>gaT	p.E92D	NUP153_ENST00000537253.1_Missense_Mutation_p.E92D	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	92					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TATTAGAGCTCTCCTCATCGG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	113	115			NA	NA	6		NA											NA				17688685		2203	4300	6503	SO:0001583	missense			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789	9972	9972			8062	protein-coding gene	gene with protein product		603948	nucleoporin 153kD		NA	8110839	Standard		NM_001278209	NA	Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.276G>T	6.37:g.17688685C>A	ENSP00000262077:p.Glu92Asp	NA	Q5T9I7	37	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	C	4.533	0.098993	0.08681	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.10668	2.85;2.89	5.25	0.691	0.18045	.	0.000000	0.50627	D	0.000115	T	0.01695	0.0054	L	0.40543	1.245	0.25779	N	0.984748	B;B;B	0.09022	0.0;0.002;0.001	B;B;B	0.10450	0.003;0.005;0.003	T	0.46442	-0.9191	10	0.16420	T	0.52	-7.7884	0.6079	0.00756	0.2222:0.2519:0.3015:0.2244	.	92;114;92	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	D	92;114;92	ENSP00000262077:E92D;ENSP00000444029:E92D	ENSP00000262077:E92D	E	-	3	2	NUP153	17796664	0.957000	0.32711	0.554000	0.28268	0.009000	0.06853	0.230000	0.17852	0.188000	0.20168	-0.156000	0.13503	GAG	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039953.1		-	ENST00000262077.2	Missense_Mutation	SNP	6 : 17688685 - 17688685 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	498	39
ZNF687	57592	broad.mit.edu	37	1	151262958	151262958	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151262958A>C	ENST00000368879.2	+	8	3287	c.3189A>C	c.(3187-3189)gaA>gaC	p.E1063D		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATCCTAGAGAAACATGTCCAG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	78	76			NA	NA	1		NA											NA				151262958		2203	4300	6503	SO:0001583	missense				CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373	57592	57592			29277	protein-coding gene	gene with protein product		610568			NA	10718198	Standard	NM_020832	NM_020832	NA	Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.3189A>C	1.37:g.151262958A>C	ENSP00000357874:p.Glu1063Asp	NA	D3DV17|Q68DQ8|Q9H937|Q9P2A7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.01|19.01	3.744875|3.744875	0.69418|0.69418	.|.	.|.	ENSG00000143373|ENSG00000143373	ENST00000368879|ENST00000336715;ENST00000324048;ENST00000426871;ENST00000436614	T|T;T	0.00638|0.01099	6.04|5.34;5.34	5.09|5.09	5.09|5.09	0.68999|0.68999	.|Zinc finger, C2H2-like (1);	.|0.000000	.|0.36066	.|U	.|0.002808	T|T	0.01976|0.01976	0.0062|0.0062	L|L	0.56769|0.56769	1.78|1.78	0.26698|0.26698	N|N	0.971216|0.971216	D|D	0.69078|0.89917	0.997|1.0	D|D	0.64042|0.66084	0.921|0.941	T|T	0.48210|0.48210	-0.9055|-0.9055	9|10	0.08599|0.41790	T|T	0.76|0.15	.|.	12.8664|12.8664	0.57941|0.57941	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1063|1043	Q8N1G0-2|Q8N1G0	.|ZN687_HUMAN	D|T	1063|1043;1043;666;11	ENSP00000357874:E1063D|ENSP00000336620:K1043T;ENSP00000319829:K1043T	ENSP00000357874:E1063D|ENSP00000319829:K1043T	E|K	+|+	3|2	2|0	ZNF687|ZNF687	149529582|149529582	0.993000|0.993000	0.37304|0.37304	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	4.989000|4.989000	0.63870|0.63870	2.129000|2.129000	0.65627|0.65627	0.460000|0.460000	0.39030|0.39030	GAA|AAA	ZNF687-201	KNOWN	basic	protein_coding	NA	protein_coding			+	ENST00000368879.2	Missense_Mutation	SNP	1 : 151262958 - 151262958 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	792	94
ALDH6A1	4329	broad.mit.edu	37	14	74538953	74538953	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74538953G>A	ENST00000553458.1	-	4	399	c.301C>T	c.(301-303)Cgc>Tgc	p.R101C	CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000556852.1_5'UTR|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.R101C|AC005484.5_ENST00000492026.1_RNA	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	101						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	ACCTGCTGGCGGCTTAATACT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	72	73			NA	NA	14		NA											NA				74538953		2203	4300	6503	SO:0001583	missense			M93405	CCDS9826.1, CCDS61501.1	14q24.3	2014-02-03			ENSG00000119711	ENSG00000119711	4329	4329	1.2.1.27	Aldehyde dehydrogenases	7179	protein-coding gene	gene with protein product		603178		MMSDH	NA	1527093	Standard		NM_005589	NA	Approved		uc001xpo.3	Q02252	OTTHUMG00000171203	ENST00000553458.1:c.301C>T	14.37:g.74538953G>A	ENSP00000450436:p.Arg101Cys	NA	B2R609|Q9UKM8	37	CCDS9826.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623528	0.87460	.	.	ENSG00000119711	ENST00000553458;ENST00000350259	D;D	0.97066	-4.23;-4.23	5.28	5.28	0.74379	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.052739	0.85682	D	0.000000	D	0.99357	0.9774	H	0.99777	4.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98111	1.0420	10	0.87932	D	0	.	19.1054	0.93293	0.0:0.0:1.0:0.0	.	101	Q02252	MMSA_HUMAN	C	101	ENSP00000450436:R101C;ENSP00000342564:R101C	ENSP00000342564:R101C	R	-	1	0	ALDH6A1	73608706	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.753000	0.85153	2.744000	0.94065	0.655000	0.94253	CGC	ALDH6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412309.1		-	ENST00000553458.1	Missense_Mutation	SNP	14 : 74538953 - 74538953 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	352	62
EFEMP2	30008	broad.mit.edu	37	11	65637409	65637409	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65637409G>A	ENST00000528176.1	-	7	713	c.646C>T	c.(646-648)Cgc>Tgc	p.R216C	EFEMP2_ENST00000307998.6_Missense_Mutation_p.R216C			O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	216	EGF-like 4; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		TTGAAGCAGCGCTGCTCGCAT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	95	93			NA	NA	11		NA											NA				65637409		2201	4296	6497	SO:0001583	missense			AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638	30008	30008		Fibulins	3219	protein-coding gene	gene with protein product	fibulin 4	604633	EGF-containing fibulin-like extracellular matrix protein 2		NA	10601734, 10982184	Standard	NM_016938	NR_037718	NA	Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000528176.1:c.646C>T	11.37:g.65637409G>A	ENSP00000434151:p.Arg216Cys	NA	A8K7R4|B3KM31|B3KQT1|O75967	37		.	.	.	.	.	.	.	.	.	.	G	21.5	4.165288	0.78339	.	.	ENSG00000172638	ENST00000528176;ENST00000307998	D;D	0.85702	-2.02;-2.02	5.6	5.6	0.85130	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.53938	D	0.000055	D	0.90010	0.6881	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.87578	0.998;0.88	D	0.89846	0.4006	10	0.56958	D	0.05	.	12.1058	0.53811	0.0:0.0:0.8283:0.1716	.	216;216	E9PRU1;O95967	.;FBLN4_HUMAN	C	216	ENSP00000434151:R216C;ENSP00000309953:R216C	ENSP00000309953:R216C	R	-	1	0	EFEMP2	65393985	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.489000	0.45285	2.644000	0.89710	0.561000	0.74099	CGC	EFEMP2-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000391858.1		-	ENST00000528176.1	Missense_Mutation	SNP	11 : 65637409 - 65637409 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	511	134
GTF3C1	2975	broad.mit.edu	37	16	27503771	27503771	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27503771G>A	ENST00000356183.4	-	19	3054	c.3039C>T	c.(3037-3039)aaC>aaT	p.N1013N	GTF3C1_ENST00000561623.1_Silent_p.N1013N	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1013						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TGCGGGCCAGGTTGTAATGTG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	73	71			NA	NA	16		NA											NA				27503771		2197	4300	6497	SO:0001819	synonymous_variant			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235	2975	2975		General transcription factors	4664	protein-coding gene	gene with protein product		603246	general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )		NA	8164661, 8127861	Standard	NM_001520	NM_001520	NA	Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.3039C>T	16.37:g.27503771G>A		NA	B2RP21|Q12838|Q6DKN9|Q9Y4W9	37	CCDS32414.1																																																																																			GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000433856.1		-	ENST00000356183.4	Silent	SNP	16 : 27503771 - 27503771 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	581	100
IGSF21	84966	broad.mit.edu	37	1	18692065	18692065	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18692065G>A	ENST00000251296.1	+	6	1272	c.889G>A	c.(889-891)Ggc>Agc	p.G297S		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	297						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GAGCAGTGACGGCACTGTGGA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	97	103			NA	NA	1		NA											NA				18692065		2203	4300	6503	SO:0001583	missense			AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154	84966	84966		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	28246	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_032880	NM_032880	NA	Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.889G>A	1.37:g.18692065G>A	ENSP00000251296:p.Gly297Ser	NA	Q8NBR8	37	CCDS184.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.067283|5.067283	0.93898|0.93898	.|.	.|.	ENSG00000117154|ENSG00000117154	ENST00000251296|ENST00000412684	T|.	0.62232|.	0.04|.	4.28|4.28	4.28|4.28	0.50868|0.50868	Immunoglobulin-like fold (1);|.	0.047421|.	0.85682|.	D|.	0.000000|.	T|T	0.55210|0.55210	0.1906|0.1906	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.51616|0.51616	-0.8683|-0.8683	10|5	0.25751|.	T|.	0.34|.	-6.8934|-6.8934	15.7859|15.7859	0.78304|0.78304	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	297|.	Q96ID5|.	IGS21_HUMAN|.	S|Q	297|249	ENSP00000251296:G297S|.	ENSP00000251296:G297S|.	G|R	+|+	1|2	0|0	IGSF21|IGSF21	18564652|18564652	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.917000|0.917000	0.54804|0.54804	8.821000|8.821000	0.92009|0.92009	2.383000|2.383000	0.81215|0.81215	0.561000|0.561000	0.74099|0.74099	GGC|CGG	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006924.1		+	ENST00000251296.1	Missense_Mutation	SNP	1 : 18692065 - 18692065 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	712	141
PTK2	5747	broad.mit.edu	37	8	141799614	141799614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141799614C>T	ENST00000522684.1	-	14	1365	c.1136G>A	c.(1135-1137)aGc>aAc	p.S379N	PTK2_ENST00000535192.1_Missense_Mutation_p.S379N|PTK2_ENST00000340930.3_Missense_Mutation_p.S379N|PTK2_ENST00000538769.1_Missense_Mutation_p.S40N|PTK2_ENST00000521059.1_Missense_Mutation_p.S379N|PTK2_ENST00000395218.2_Missense_Mutation_p.S379N|PTK2_ENST00000519419.1_Missense_Mutation_p.S423N|PTK2_ENST00000517887.1_Missense_Mutation_p.S423N	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	379					axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TTGCTTTTCGCTGTTGGCCAA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													222	199	207			NA	NA	8		NA											NA				141799614		2203	4300	6503	SO:0001583	missense			L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	5747	5747	2.7.10.1	Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	9611	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 71	600758	PTK2 protein tyrosine kinase 2		NA	8422239	Standard	NM_005607	NM_153831	NA	Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1136G>A	8.37:g.141799614C>T	ENSP00000429911:p.Ser379Asn	NA	Q14291|Q9UD85	37	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.303527	0.23736	.	.	ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000521986;ENST00000342207	T;T;T;T;T;T;T;T;T;T	0.75704	-0.96;-0.94;-0.95;-0.96;-0.95;-0.9;-0.95;-0.91;-0.95;-0.89	5.87	3.69	0.42338	.	0.161248	0.64402	N	0.000002	T	0.49389	0.1554	N	0.11000	0.08	0.28552	N	0.911562	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.04013	0.0;0.001;0.001;0.0;0.001;0.0;0.0;0.0	T	0.31586	-0.9938	10	0.16420	T	0.52	.	6.8538	0.24030	0.0:0.7674:0.0:0.2326	.	379;40;286;379;401;379;290;40	B4E2N6;B4DH13;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6;Q8N9D7	.;.;.;FAK1_HUMAN;.;.;.;.	N	379;379;423;379;289;379;286;40;44;379;40;423;43;197	ENSP00000429911:S379N;ENSP00000438009:S379N;ENSP00000429082:S423N;ENSP00000429474:S379N;ENSP00000378644:S379N;ENSP00000428492:S44N;ENSP00000341189:S379N;ENSP00000445742:S40N;ENSP00000429129:S423N;ENSP00000430603:S43N	ENSP00000341189:S379N	S	-	2	0	PTK2	141868796	0.889000	0.30405	0.995000	0.50966	0.969000	0.65631	1.303000	0.33470	1.599000	0.50093	0.655000	0.94253	AGC	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378054.5		-	ENST00000522684.1	Missense_Mutation	SNP	8 : 141799614 - 141799614 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1090	192
GGA3	23163	broad.mit.edu	37	17	73234437	73234437	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73234437C>T	ENST00000582486.1	-	16	2101				GGA3_ENST00000582717.1_Missense_Mutation_p.A627T|GGA3_ENST00000245541.6_Missense_Mutation_p.A699T|GGA3_ENST00000538886.1_Missense_Mutation_p.A577T|GGA3_ENST00000578348.1_Intron|GGA3_ENST00000351904.7_Missense_Mutation_p.A666T	NM_001172703.1	NP_001166174.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	NA					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			TCCCCCAGGGCGAAGGTCAGC	0.627		NA									OREG0024729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	60	64			NA	NA	17		NA											NA				73234437		2203	4300	6503	SO:0001627	intron_variant			AF190864	CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1	17q25	2010-02-12	2010-02-12			ENSG00000125447	23163	23163			17079	protein-coding gene	gene with protein product		606006			NA	10747089, 10749927	Standard	NM_138619	NR_033345	NA	Approved	KIAA0154	uc002jni.2	Q9NZ52		ENST00000582486.1:c.1845+295G>A	17.37:g.73234437C>T		1143	Q15017|Q6IS16|Q9UJY3	37		.	.	.	.	.	.	.	.	.	.	C	7.410	0.634461	0.14322	.	.	ENSG00000125447	ENST00000245541;ENST00000351904;ENST00000537584;ENST00000538886	T;T;T	0.38887	1.11;1.11;1.11	5.08	4.08	0.47627	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, gamma-adaptin, appendage (2);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);	0.463089	0.25601	N	0.029542	T	0.09113	0.0225	N	0.00151	-1.98	0.80722	D	1	B;B	0.20368	0.044;0.031	B;B	0.10450	0.003;0.005	T	0.19745	-1.0296	10	0.06757	T	0.87	-8.533	9.4961	0.38989	0.0:0.8053:0.0:0.1947	.	666;699	Q9NZ52-2;Q9NZ52	.;GGA3_HUMAN	T	699;666;627;577	ENSP00000245541:A699T;ENSP00000326575:A666T;ENSP00000446421:A577T	ENSP00000245541:A699T	A	-	1	0	GGA3	70746032	0.908000	0.30866	0.995000	0.50966	0.983000	0.72400	1.007000	0.29860	1.293000	0.44690	0.563000	0.77884	GCC	GGA3-006	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000446649.1		-	ENST00000582486.1	Intron	SNP	17 : 73234437 - 73234437 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	256	62
GRHL2	79977	broad.mit.edu	37	8	102585977	102585977	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:102585977A>C	ENST00000251808.3	+	6	1154	c.816A>C	c.(814-816)aaA>aaC	p.K272N	GRHL2_ENST00000395927.1_Missense_Mutation_p.K256N	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	272						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			ACCTCAACAAAGGACAGTTCT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	73	78			NA	NA	8		NA											NA				102585977		2203	4300	6503	SO:0001583	missense			AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307	79977	79977			2799	protein-coding gene	gene with protein product		608576	deafness, autosomal dominant 28, transcription factor CP2-like 3	DFNA28, TFCP2L3	NA	12393799	Standard	NM_024915	NM_024915	NA	Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.816A>C	8.37:g.102585977A>C	ENSP00000251808:p.Lys272Asn	NA	A1L303|Q6NT03|Q9H8B8	37	CCDS34931.1	.	.	.	.	.	.	.	.	.	.	A	19.18	3.778126	0.70107	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.26957	1.7;1.7	5.8	0.79	0.18613	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.53850	0.1822	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	0.993;1.0	P;D	0.91635	0.875;0.999	T	0.56306	-0.8001	10	0.87932	D	0	-27.0773	11.1202	0.48284	0.7395:0.0:0.2605:0.0	.	272;272	B4DL28;Q6ISB3	.;GRHL2_HUMAN	N	272;256;272	ENSP00000251808:K272N;ENSP00000379260:K256N	ENSP00000251808:K272N	K	+	3	2	GRHL2	102655153	1.000000	0.71417	0.991000	0.47740	0.982000	0.71751	1.433000	0.34947	-0.346000	0.08312	-1.162000	0.01777	AAA	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313882.1		+	ENST00000251808.3	Missense_Mutation	SNP	8 : 102585977 - 102585977 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	232	47
PTPRF	5792	broad.mit.edu	37	1	44070974	44070974	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44070974C>T	ENST00000359947.4	+	18	3589	c.3249C>T	c.(3247-3249)agC>agT	p.S1083S	PTPRF_ENST00000372414.3_Silent_p.S1083S|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Silent_p.S431S|PTPRF_ENST00000372413.3_Silent_p.S1074S|PTPRF_ENST00000438120.1_Silent_p.S1074S	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1083	Fibronectin type-III 8.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTGGCAGCAGCGCAGGGGGCC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	61	59			NA	NA	1		NA											NA				44070974		2203	4300	6503	SO:0001819	synonymous_variant			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949	5792	5792		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	9670	protein-coding gene	gene with protein product		179590		LAR	NA	7558042	Standard		NM_130440	NA	Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3249C>T	1.37:g.44070974C>T		NA	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	37	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.300|9.300	1.052874|1.052874	0.19907|0.19907	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000412568;ENST00000414879	.|.	.|.	.|.	5.31|5.31	-5.64|-5.64	0.02466|0.02466	.|.	.|.	.|.	.|.	.|.	T|T	0.65217|0.65217	0.2670|0.2670	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.66905|0.66905	-0.5805|-0.5805	4|4	.|.	.|.	.|.	.|.	16.6775|16.6775	0.85283|0.85283	0.0:0.1841:0.0:0.8159|0.0:0.1841:0.0:0.8159	.|.	.|.	.|.	.|.	V|C	729|456;497	.|.	.|.	A|R	+|+	2|1	0|0	PTPRF|PTPRF	43843561|43843561	0.002000|0.002000	0.14202|0.14202	0.437000|0.437000	0.26809|0.26809	0.853000|0.853000	0.48598|0.48598	-1.240000|-1.240000	0.02914|0.02914	-1.139000|-1.139000	0.02881|0.02881	-0.229000|-0.229000	0.12294|0.12294	GCG|CGC	PTPRF-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019710.1		+	ENST00000359947.4	Silent	SNP	1 : 44070974 - 44070974 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	502	50
PRR5L	79899	broad.mit.edu	37	11	36422814	36422814	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:36422814G>A	ENST00000527487.1	+	1	200	c.143G>A	c.(142-144)aGc>aAc	p.S48N	PRR5L_ENST00000311599.5_Missense_Mutation_p.S22N|PRR5L_ENST00000378867.3_Missense_Mutation_p.S48N|PRR5L_ENST00000389693.3_Intron|PRR5L_ENST00000530639.1_Missense_Mutation_p.S48N	NM_001160169.1	NP_001153641.1	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	48										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						CTGCAGCTGAGCTCCAGCTCA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ASN/SER,,ASN/SER,ASN/SER	0,4402		0,0,2201	27	26	26		143,,143,143	5.2	1	11		26	1,8595	1.2+/-3.3	0,1,4297	no	missense,intron,missense,missense	PRR5L	NM_001160167.1,NM_001160168.1,NM_001160169.1,NM_024841.4	46,,46,46	0,1,6498	AA,AG,GG	NA	0.0116,0.0,0.0077	benign,,benign,benign	48/369,,48/206,48/369	36422814	1,12997	2201	4298	6499	SO:0001583	missense				CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362	79899	79899			25878	protein-coding gene	gene with protein product	protein observed with Rictor-2	611728			NA	17461779	Standard	NM_024841	NM_024841	NA	Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000527487.1:c.143G>A	11.37:g.36422814G>A	ENSP00000435241:p.Ser48Asn	NA	A4QN22|Q96H46|Q9H7V4	37	CCDS53617.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.015551	0.54468	0.0	1.16E-4	ENSG00000135362	ENST00000530639;ENST00000532121;ENST00000526728;ENST00000311599;ENST00000378867;ENST00000524380;ENST00000526682;ENST00000530252;ENST00000530050;ENST00000526679;ENST00000527487	T;T;T;T;T;T;T;T;T;T;T	0.64991	1.52;1.52;1.52;1.76;1.52;-0.13;1.52;1.52;1.52;1.52;1.52	5.24	5.24	0.73138	.	0.163476	0.56097	D	0.000033	T	0.46288	0.1385	L	0.27053	0.805	0.43255	D	0.995181	B;B	0.15473	0.003;0.013	B;B	0.15052	0.012;0.01	T	0.36553	-0.9743	10	0.14252	T	0.57	-18.1743	12.2157	0.54404	0.0774:0.0:0.9226:0.0	.	48;48	E9PKY1;Q6MZQ0	.;PRR5L_HUMAN	N	48;48;48;22;48;48;48;48;48;48;48	ENSP00000435050:S48N;ENSP00000433893:S48N;ENSP00000431610:S48N;ENSP00000310103:S22N;ENSP00000368144:S48N;ENSP00000433305:S48N;ENSP00000436485:S48N;ENSP00000431475:S48N;ENSP00000432203:S48N;ENSP00000436402:S48N;ENSP00000435241:S48N	ENSP00000310103:S22N	S	+	2	0	PRR5L	36379390	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.714000	0.61902	2.440000	0.82611	0.655000	0.94253	AGC	PRR5L-017	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389525.1		+	ENST00000527487.1	Missense_Mutation	SNP	11 : 36422814 - 36422814 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	173	21
NLGN1	22871	broad.mit.edu	37	3	173996999	173996999	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:173996999A>G	ENST00000457714.1	+	6	1637	c.1208A>G	c.(1207-1209)gAt>gGt	p.D403G	NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000361589.4_Missense_Mutation_p.D403G|NLGN1_ENST00000545397.1_Missense_Mutation_p.D403G|NLGN1_ENST00000401917.3_Missense_Mutation_p.D443G	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	420					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GTAGATAGCGATGATGGTATA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	130	128			NA	NA	3		NA											NA				173996999		2203	4300	6503	SO:0001583	missense			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760	22871	22871			14291	protein-coding gene	gene with protein product		600568			NA	10767552, 10819331	Standard	NM_014932	NM_014932	NA	Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1208A>G	3.37:g.173996999A>G	ENSP00000392500:p.Asp403Gly	NA	Q9UPT2	37	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	A	15.36	2.811455	0.50527	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.62	5.62	0.85841	.	0.106713	0.64402	D	0.000006	T	0.55784	0.1942	N	0.21545	0.675	0.58432	D	0.999994	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.001	T	0.54111	-0.8342	10	0.72032	D	0.01	.	15.837	0.78805	1.0:0.0:0.0:0.0	.	443;403	D2X2H5;Q8N2Q7-2	.;.	G	403;403;403;443	ENSP00000392500:D403G;ENSP00000354541:D403G;ENSP00000441108:D403G;ENSP00000385750:D443G	ENSP00000354541:D403G	D	+	2	0	NLGN1	175479693	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.140000	0.66376	0.460000	0.39030	GAT	NLGN1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347054.3		+	ENST00000457714.1	Missense_Mutation	SNP	3 : 173996999 - 173996999 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	510	90
ZFYVE20	64145	broad.mit.edu	37	3	15127405	15127405	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15127405A>G	ENST00000253699.3	-	6	966	c.353T>C	c.(352-354)gTt>gCt	p.V118A	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.V118A|ZFYVE20_ENST00000435849.3_Missense_Mutation_p.V118A|ZFYVE20_ENST00000449964.2_5'UTR	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	118	Necessary for the correct targeting to endosomes.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GACTTCCACAACATAGTGGTC	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	195	189			NA	NA	3		NA											NA				15127405		2203	4300	6503	SO:0001583	missense			AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381	64145	64145		Zinc fingers, FYVE domain containing	20759	protein-coding gene	gene with protein product		609511			NA	11062261	Standard	NM_022340	XR_427283	NA	Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.353T>C	3.37:g.15127405A>G	ENSP00000253699:p.Val118Ala	NA	Q3KP30|Q59EY8|Q8NAQ1	37	CCDS2623.1	.	.	.	.	.	.	.	.	.	.	A	17.53	3.411677	0.62399	.	.	ENSG00000131381	ENST00000253699;ENST00000476527;ENST00000435849	T;T;T	0.70516	0.79;0.79;-0.49	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.73071	0.3540	N	0.17901	0.54	0.80722	D	1	D;P	0.76494	0.999;0.911	D;P	0.76071	0.987;0.532	T	0.70117	-0.4960	10	0.20046	T	0.44	-15.8092	16.2526	0.82494	1.0:0.0:0.0:0.0	.	118;118	B4DWY8;Q9H1K0	.;RBNS5_HUMAN	A	118	ENSP00000253699:V118A;ENSP00000422551:V118A;ENSP00000391039:V118A	ENSP00000253699:V118A	V	-	2	0	ZFYVE20	15102409	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.543000	0.90651	2.241000	0.73720	0.482000	0.46254	GTT	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252102.2		-	ENST00000253699.3	Missense_Mutation	SNP	3 : 15127405 - 15127405 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1305	221
GJC2	57165	broad.mit.edu	37	1	228345635	228345635	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228345635G>A	ENST00000366714.2	+	2	351	c.176G>A	c.(175-177)cGg>cAg	p.R59Q		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	59					cell death	connexon complex|integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				TGCAACACGCGGCAGCCAGGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	53	59			NA	NA	1		NA											NA				228345635		2203	4300	6503	SO:0001583	missense			AF014643	CCDS1569.1	1q41-q42	2009-01-02	2007-12-14	2007-11-06	ENSG00000198835	ENSG00000198835	57165	57165		Ion channels / Gap junction proteins (connexins)	17494	protein-coding gene	gene with protein product	connexin 47	608803	gap junction protein, alpha 12, 47kDa	GJA12	NA	19056803	Standard	NM_020435	NM_020435	NA	Approved	CX47, CX46.6, SPG44	uc001hsk.3	Q5T442	OTTHUMG00000039771	ENST00000366714.2:c.176G>A	1.37:g.228345635G>A	ENSP00000355675:p.Arg59Gln	NA	O43440|Q7Z7J2|Q8IWJ9	37	CCDS1569.1	.	.	.	.	.	.	.	.	.	.	G	8.123	0.781455	0.16120	.	.	ENSG00000198835	ENST00000366714	D	0.99014	-5.33	4.23	4.23	0.50019	Connexin, conserved site (1);Connexin, N-terminal (2);	0.085302	0.40818	N	0.001014	D	0.93442	0.7908	N	0.02412	-0.56	0.32788	N	0.50156	D	0.53745	0.962	P	0.47626	0.552	D	0.93093	0.6501	10	0.02654	T	1	.	5.0104	0.14310	0.2671:0.0:0.7329:0.0	.	59	Q5T442	CXG2_HUMAN	Q	59	ENSP00000355675:R59Q	ENSP00000355675:R59Q	R	+	2	0	GJC2	226412258	1.000000	0.71417	0.999000	0.59377	0.057000	0.15508	6.008000	0.70739	2.204000	0.70986	0.491000	0.48974	CGG	GJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095985.1		+	ENST00000366714.2	Missense_Mutation	SNP	1 : 228345635 - 228345635 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	185	43
DDR1	780	broad.mit.edu	37	6	30865220	30865220	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30865220C>A	ENST00000508312.1	+	14	2257	c.2005C>A	c.(2005-2007)Ctg>Atg	p.L669M	DDR1_ENST00000361741.4_Missense_Mutation_p.L355M|DDR1_ENST00000376567.2_Missense_Mutation_p.L651M|DDR1_ENST00000376570.4_Missense_Mutation_p.L651M|DDR1_ENST00000376568.3_Missense_Mutation_p.L688M|DDR1_ENST00000376569.3_Missense_Mutation_p.L651M|DDR1_ENST00000324771.8_Missense_Mutation_p.L688M|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000452441.1_Missense_Mutation_p.L688M|DDR1_ENST00000513240.1_Missense_Mutation_p.L694M|DDR1_ENST00000376575.3_Missense_Mutation_p.L694M|DDR1_ENST00000418800.2_Missense_Mutation_p.L651M|DDR1_ENST00000454612.2_Missense_Mutation_p.L651M	NM_001202523.1	NP_001189452.1	Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	688	Protein kinase.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CATTCGGCTGCTGGGCGTGTG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	96	99			NA	NA	6		NA											NA				30865220		2203	4300	6503	SO:0001583	missense			X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	780	780	2.7.10.1	CD molecules	2730	protein-coding gene	gene with protein product		600408	discoidin domain receptor family, member 1	NTRK4, PTK3A, NEP, CAK, EDDR1	NA	7789998	Standard	NM_013994	NM_001954	NA	Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000508312.1:c.2005C>A	6.37:g.30865220C>A	ENSP00000422442:p.Leu669Met	NA	B5A975|B5A976|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	37	CCDS56411.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.63|17.63	3.436800|3.436800	0.62955|0.62955	.|.	.|.	ENSG00000204580|ENSG00000204580	ENST00000484556|ENST00000324771;ENST00000418800;ENST00000454612;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000376567;ENST00000513240;ENST00000417521;ENST00000361741	.|D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.90563	.|-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69	5.39|5.39	2.66|2.66	0.31614|0.31614	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.64402	.|D	.|0.000005	.|D	.|0.90830	.|0.7120	L|L	0.56769|0.56769	1.78|1.78	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D;D;D;D	.|0.89917	.|1.0;0.995;0.999;0.997;1.0	.|D;D;D;D;D	.|0.91635	.|0.999;0.976;0.999;0.98;0.999	.|D	.|0.90163	.|0.4229	.|10	.|0.87932	.|D	.|0	.|.	8.9889|8.9889	0.36010|0.36010	0.0:0.7543:0.0:0.2457|0.0:0.7543:0.0:0.2457	.|.	.|669;152;420;694;688	.|B7Z2K0;A2ABL4;A2ABM8;Q08345-5;Q08345	.|.;.;.;.;DDR1_HUMAN	X|M	44|688;651;651;651;694;651;688;688;669;651;694;420;355	.|ENSP00000318217:L688M;ENSP00000407699:L651M;ENSP00000406091:L651M;ENSP00000365753:L651M;ENSP00000365759:L694M;ENSP00000365754:L651M;ENSP00000365752:L688M;ENSP00000405039:L688M;ENSP00000422442:L669M;ENSP00000365751:L651M;ENSP00000427552:L694M;ENSP00000398682:L420M;ENSP00000354844:L355M	.|ENSP00000318217:L688M	C|L	+|+	3|1	2|2	DDR1|DDR1	30973199|30973199	0.998000|0.998000	0.40836|0.40836	0.952000|0.952000	0.39060|0.39060	0.977000|0.977000	0.68977|0.68977	2.640000|2.640000	0.46579|0.46579	0.264000|0.264000	0.21851|0.21851	0.462000|0.462000	0.41574|0.41574	TGC|CTG	DDR1-020	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369045.2		+	ENST00000508312.1	Missense_Mutation	SNP	6 : 30865220 - 30865220 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	492	99
KIAA1549	57670	broad.mit.edu	37	7	138603904	138603904	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138603904C>T	ENST00000440172.1	-	2	516	c.468G>A	c.(466-468)gaG>gaA	p.E156E	KIAA1549_ENST00000242365.4_Silent_p.E106E|KIAA1549_ENST00000422774.1_Silent_p.E156E	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	156						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AGTTATCCATCTCATCGTCAT	0.488		NA	O	BRAF	pilocytic astrocytoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(119;1534 1718 44213 46230 50068)		Dom	yes		7	7q34	57670	KIAA1549		O	0													230	221	224			NA	NA	7		NA											NA				138603904		2010	4185	6195	SO:0001819	synonymous_variant				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778	57670	57670			22219	protein-coding gene	gene with protein product		613344			NA		Standard		NM_020910	NA	Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000440172.1:c.468G>A	7.37:g.138603904C>T		NA	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	37	CCDS47723.2																																																																																			KIAA1549-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347938.2		-	ENST00000440172.1	Silent	SNP	7 : 138603904 - 138603904 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	957	146
ADAMTS17	170691	broad.mit.edu	37	15	100514630	100514630	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100514630G>A	ENST00000268070.4	-	22	3370	c.3265C>T	c.(3265-3267)Cgc>Tgc	p.R1089C		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	1089					proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R1089C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GGTGGCTGGCGCATCTTGTTT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											63	60	61			NA	NA	15		NA											NA				100514630		2203	4300	6503	SO:0001583	missense			AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470	170691	170691		ADAM metallopeptidases with thrombospondin type 1 motif	17109	protein-coding gene	gene with protein product		607511	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17		NA	11867212	Standard	NM_139057	NM_139057	NA	Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.3265C>T	15.37:g.100514630G>A	ENSP00000268070:p.Arg1089Cys	NA	Q2I7G4|Q6ZN75	37	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	G	34	5.329595	0.95733	.	.	ENSG00000140470	ENST00000268070	T	0.62788	0.0	5.7	5.7	0.88788	.	0.355468	0.27482	N	0.019170	T	0.49440	0.1557	N	0.08118	0	0.80722	D	1	D	0.65815	0.995	B	0.44315	0.446	T	0.59225	-0.7494	10	0.56958	D	0.05	.	19.8288	0.96627	0.0:0.0:1.0:0.0	.	1089	Q8TE56	ATS17_HUMAN	C	1089	ENSP00000268070:R1089C	ENSP00000268070:R1089C	R	-	1	0	ADAMTS17	98332153	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.006000	0.76329	2.679000	0.91253	0.650000	0.86243	CGC	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313595.1		-	ENST00000268070.4	Missense_Mutation	SNP	15 : 100514630 - 100514630 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	461	14
CDSN	1041	broad.mit.edu	37	6	31084963	31084963	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31084963G>A	ENST00000376288.2	-	2	455	c.429C>T	c.(427-429)aaC>aaT	p.N143N	PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	NM_001264.4	NP_001255	Q15517	CDSN_HUMAN	corneodesmosin	143	Ser-rich.		Missing (in allele 2.11).|N -> S (in dbSNP:rs3130984).		cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						GAGAGCCGCTGTTTCCCGAGT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	32	32			NA	NA	6		NA											NA				31084963		2195	4283	6478	SO:0001819	synonymous_variant			AF030130	CCDS34389.1	6p21.3	2008-07-29			ENSG00000204539	ENSG00000204539	1041	1041			1802	protein-coding gene	gene with protein product		602593			NA	9395522, 8415725	Standard		NM_001264	NA	Approved	D6S586E	uc003nsm.2	Q15517	OTTHUMG00000031150	ENST00000376288.2:c.429C>T	6.37:g.31084963G>A		NA	B0S7V2|B0UYZ7|O43509|Q5SQ85|Q5STD2|Q7LA70|Q7LA71|Q86Z04|Q8IZU4|Q8IZU5|Q8IZU6|Q8N5P3|Q95IF9|Q9NP52|Q9NPE0|Q9NPG5|Q9NRH4|Q9NRH5|Q9NRH6|Q9NRH7|Q9NRH8|Q9UBH8|Q9UIN6|Q9UIN7|Q9UIN8|Q9UIN9|Q9UIP0	37	CCDS34389.1																																																																																			CDSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076275.2		-	ENST00000376288.2	Silent	SNP	6 : 31084963 - 31084963 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	32
NMT2	9397	broad.mit.edu	37	10	15161458	15161458	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15161458G>A	ENST00000378165.4	-	9	1134	c.1054C>T	c.(1054-1056)Cga>Tga	p.R352*	RPP38_ENST00000451677.1_Intron|NMT2_ENST00000540259.1_Nonsense_Mutation_p.R164*|NMT2_ENST00000378150.1_Nonsense_Mutation_p.R339*|NMT2_ENST00000535341.1_Nonsense_Mutation_p.R339*	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	352					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						ATTAATTCTCGAACTGATTTG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(117;1345 1645 4130 12688 30625)							NA				0													195	177	183			NA	NA	10		NA											NA				15161458		2203	4300	6503	SO:0001587	stop_gained			AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465	9397	9397			7858	protein-coding gene	gene with protein product		603801			NA	9506952	Standard	NM_004808	NM_004808	NA	Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.1054C>T	10.37:g.15161458G>A	ENSP00000367407:p.Arg352*	NA	B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	37	CCDS7109.1	.	.	.	.	.	.	.	.	.	.	G	39	7.418072	0.98272	.	.	ENSG00000152465	ENST00000378165;ENST00000378150;ENST00000378143;ENST00000540259;ENST00000535341	.	.	.	5.69	3.78	0.43462	.	0.410282	0.26684	N	0.023024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.3702	12.722	0.57147	0.0:0.1261:0.7426:0.1313	.	.	.	.	X	352;339;383;164;339	.	.	R	-	1	2	NMT2	15201464	1.000000	0.71417	0.821000	0.32701	0.980000	0.70556	4.186000	0.58337	0.712000	0.32039	0.655000	0.94253	CGA	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046958.2		-	ENST00000378165.4	Nonsense_Mutation	SNP	10 : 15161458 - 15161458 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	403	73
CACNA1B	774	broad.mit.edu	37	9	140995616	140995616	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140995616C>T	ENST00000371372.1	+	38	5367				CACNA1B_ENST00000371357.1_Intron|CACNA1B_ENST00000371365.2_Silent_p.G125G|CACNA1B_ENST00000277549.5_Intron|CACNA1B_ENST00000371355.4_Intron|CACNA1B_ENST00000371363.1_Intron|CACNA1B_ENST00000277551.2_Intron	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	NA					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CACCCGTTGGCTTAGGGAAGA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	36	39			NA	NA	9		NA											NA				140995616		876	1991	2867	SO:0001627	intron_variant			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408	774	774		Calcium channel subunits, Voltage-gated ion channels / Calcium channels, EF-hand domain containing	1389	protein-coding gene	gene with protein product		601012		CACNL1A5	NA	8825650, 16382099	Standard	NM_000718	NM_000718	NA	Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.5223-1547C>T	9.37:g.140995616C>T		NA	B1AQK5	37	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	C	8.807	0.934280	0.18206	.	.	ENSG00000148408	ENST00000413253	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	T	0.68723	0.3032	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67841	-0.5566	4	.	.	.	.	13.574	0.61864	0.0:0.844:0.156:0.0	.	.	.	.	F	126	.	.	L	+	1	0	CACNA1B	140115437	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.872000	0.69636	2.190000	0.69967	0.455000	0.32223	CTT	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055380.1		+	ENST00000371372.1	Intron	SNP	9 : 140995616 - 140995616 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	97	21
CSPG5	10675	broad.mit.edu	37	3	47619042	47619042	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47619042G>A	ENST00000383738.2	-	2	2572	c.474C>T	c.(472-474)ggC>ggT	p.G158G	CSPG5_ENST00000264723.4_Silent_p.G158G|CSPG5_ENST00000456150.1_Silent_p.G20G	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	158					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCAGCTTGTCGCCGGGGGTGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	33	31			NA	NA	3		NA											NA				47619042		2195	4292	6487	SO:0001819	synonymous_variant			AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646	10675	10675			2467	protein-coding gene	gene with protein product		606775			NA	9950058	Standard	NM_006574	NM_006574	NA	Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.474C>T	3.37:g.47619042G>A		NA	Q71M39|Q71M40	37	CCDS56253.1																																																																																			CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257489.1		-	ENST00000383738.2	Silent	SNP	3 : 47619042 - 47619042 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	490	103
METTL13	51603	broad.mit.edu	37	1	171765763	171765763	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171765763C>A	ENST00000361735.3	+	8	2233	c.1967C>A	c.(1966-1968)cCt>cAt	p.P656H	METTL13_ENST00000367737.5_Missense_Mutation_p.P500H|METTL13_ENST00000458517.1_Missense_Mutation_p.P655H|METTL13_ENST00000362019.3_Missense_Mutation_p.P570H|METTL13_ENST00000466643.1_3'UTR	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN	methyltransferase like 13	656							methyltransferase activity|protein binding	p.P656L(1)		breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						CAGCTGCACCCTGAGCAAAAA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											117	110	113			NA	NA	1		NA											NA				171765763		2203	4300	6503	SO:0001583	missense			AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165	51603	51603			24248	protein-coding gene	gene with protein product			KIAA0859	KIAA0859	NA	10810093, 10048485	Standard	NM_014955	NM_001007239	NA	Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1967C>A	1.37:g.171765763C>A	ENSP00000354920:p.Pro656His	NA	A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	37	CCDS1299.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560058	0.65538	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735;ENST00000367736;ENST00000341850	T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3	5.79	5.79	0.91817	.	0.459579	0.26742	N	0.022725	T	0.80110	0.4563	L	0.36672	1.1	0.20764	N	0.999852	B;D;B	0.56287	0.054;0.975;0.198	B;P;B	0.58660	0.018;0.843;0.28	T	0.76408	-0.2970	10	0.87932	D	0	-0.688	19.635	0.95728	0.0:1.0:0.0:0.0	.	655;500;656	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	H	655;570;500;656;356;353	ENSP00000401955:P655H;ENSP00000355393:P570H;ENSP00000356711:P500H;ENSP00000354920:P656H;ENSP00000356710:P356H	ENSP00000341732:P353H	P	+	2	0	METTL13	170032386	0.034000	0.19679	0.412000	0.26496	0.966000	0.64601	3.279000	0.51670	2.733000	0.93635	0.655000	0.94253	CCT	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084528.5		+	ENST00000361735.3	Missense_Mutation	SNP	1 : 171765763 - 171765763 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	657	159
LAMA2	3908	broad.mit.edu	37	6	129634016	129634016	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129634016G>A	ENST00000421865.2	+	23	3234	c.3185G>A	c.(3184-3186)tGc>tAc	p.C1062Y		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1062	Laminin EGF-like 12.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCTTGTAACTGCAGCACAGTG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	73	73			NA	NA	6		NA											NA				129634016		2203	4300	6503	SO:0001583	missense			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569	3908	3908		Laminins	6482	protein-coding gene	gene with protein product	merosin, congenital muscular dystrophy	156225		LAMM	NA	2185464, 8294519	Standard		NM_000426	NA	Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.3185G>A	6.37:g.129634016G>A	ENSP00000400365:p.Cys1062Tyr	NA	Q14736|Q5VUM2|Q93022	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327102	0.81690	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	D	0.94330	-3.4	5.92	5.92	0.95590	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.98611	0.9535	H	0.99507	4.6	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	D	0.99368	1.0919	10	0.87932	D	0	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	1062;1062	A6NF00;P24043	.;LAMA2_HUMAN	Y	1062	ENSP00000400365:C1062Y	ENSP00000346769:C1062Y	C	+	2	0	LAMA2	129675709	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.286000	0.89916	2.822000	0.97130	0.650000	0.86243	TGC	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042180.1		+	ENST00000421865.2	Missense_Mutation	SNP	6 : 129634016 - 129634016 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	157	25
RLBP1	6017	broad.mit.edu	37	15	89758374	89758374	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89758374G>T	ENST00000268125.5	-	6	881	c.442C>A	c.(442-444)Ctc>Atc	p.L148I		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	148	CRAL-TRIO.				response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	CGACTAGAGAGGACACCAGGG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	114	118			NA	NA	15		NA											NA				89758374		2200	4299	6499	SO:0001583	missense			BC004199	CCDS32324.1	15q26.1	2007-07-16	2001-11-28			ENSG00000140522	6017	6017			10024	protein-coding gene	gene with protein product		180090	retinaldehyde-binding protein 1		NA	1733864, 9326942	Standard	NM_000326	NM_000326	NA	Approved	CRALBP	uc002bnl.3	P12271		ENST00000268125.5:c.442C>A	15.37:g.89758374G>T	ENSP00000268125:p.Leu148Ile	NA	B2R667	37	CCDS32324.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362622	0.82353	.	.	ENSG00000140522	ENST00000268125	T	0.74737	-0.87	4.8	4.8	0.61643	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.85699	0.5757	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87315	0.2314	10	0.72032	D	0.01	-14.822	11.386	0.49785	0.0835:0.0:0.9165:0.0	.	148	P12271	RLBP1_HUMAN	I	148	ENSP00000268125:L148I	ENSP00000268125:L148I	L	-	1	0	RLBP1	87559378	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.433000	0.80362	2.229000	0.72834	0.561000	0.74099	CTC	RLBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421135.1		-	ENST00000268125.5	Missense_Mutation	SNP	15 : 89758374 - 89758374 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	653	129
C2orf40	84417	broad.mit.edu	37	2	106694297	106694297	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106694297G>A	ENST00000409944.1	+	5	485	c.254G>A	c.(253-255)cGt>cAt	p.R85H	C2orf40_ENST00000238044.3_Missense_Mutation_p.R121H			Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	121						extracellular region|transport vesicle				lung(7)|urinary_tract(1)	8						TACTACCAACGTCACTATGAT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	141	148			NA	NA	2		NA											NA				106694297		2203	4300	6503	SO:0001583	missense			BC021742	CCDS2072.1	2q12.2	2014-01-28			ENSG00000119147	ENSG00000119147	84417	84417			24642	protein-coding gene	gene with protein product	esophageal cancer related gene 4 protein	611752			NA	12800218	Standard	NM_032411	NM_032411	NA	Approved	ECRG4, augurin	uc010fjf.3	Q9H1Z8	OTTHUMG00000130921	ENST00000409944.1:c.254G>A	2.37:g.106694297G>A	ENSP00000386421:p.Arg85His	NA	D3DVK2	37		.	.	.	.	.	.	.	.	.	.	G	4.996	0.184997	0.09495	.	.	ENSG00000119147	ENST00000409944;ENST00000238044;ENST00000437659	T;T;T	0.39997	1.05;1.05;1.05	5.31	4.44	0.53790	.	0.055536	0.64402	D	0.000001	T	0.21227	0.0511	N	0.16656	0.425	0.35120	D	0.76693	B	0.14012	0.009	B	0.13407	0.009	T	0.17992	-1.0351	10	0.07813	T	0.8	-8.5573	6.519	0.22264	0.3126:0.0:0.6874:0.0	.	121	Q9H1Z8	AUGN_HUMAN	H	85;121;123	ENSP00000386421:R85H;ENSP00000238044:R121H;ENSP00000388664:R123H	ENSP00000238044:R121H	R	+	2	0	C2orf40	106060729	1.000000	0.71417	0.994000	0.49952	0.783000	0.44284	3.886000	0.56190	1.231000	0.43661	0.591000	0.81541	CGT	C2orf40-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000329791.1		+	ENST00000409944.1	Missense_Mutation	SNP	2 : 106694297 - 106694297 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	468	120
DLK2	65989	broad.mit.edu	37	6	43420813	43420813	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43420813C>A	ENST00000357338.3	-	4	901	c.201G>T	c.(199-201)caG>caT	p.Q67H	DLK2_ENST00000372488.3_Missense_Mutation_p.Q67H|DLK2_ENST00000414245.1_Missense_Mutation_p.Q67H|DLK2_ENST00000372485.1_Missense_Mutation_p.Q67H	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	67	EGF-like 2.					integral to membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AGGTACCGTGCTGGCAGCCAG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	42	46			NA	NA	6		NA											NA				43420813		2203	4300	6503	SO:0001583	missense			AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462	65989	65989			21113	protein-coding gene	gene with protein product			EGF-like-domain, multiple 9	EGFL9	NA		Standard	NM_023932	NM_001286656	NA	Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.201G>T	6.37:g.43420813C>A	ENSP00000349893:p.Gln67His	NA	B3KNZ7|Q5T3T8|Q9BQ54	37	CCDS4897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.71|17.71	3.457599|3.457599	0.63401|0.63401	.|.	.|.	ENSG00000171462|ENSG00000171462	ENST00000372485;ENST00000372488;ENST00000372496;ENST00000357338;ENST00000414245|ENST00000430324	D;T;T;D|.	0.89875|.	-2.58;-0.23;-0.23;-2.58|.	4.72|4.72	3.85|3.85	0.44370|0.44370	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.488214|.	0.20090|.	N|.	0.099473|.	T|T	0.19886|0.19886	0.0478|0.0478	N|N	0.20328|0.20328	0.56|0.56	0.37571|0.37571	D|D	0.919444|0.919444	P|.	0.52316|.	0.952|.	B|.	0.42163|.	0.378|.	T|T	0.06445|0.06445	-1.0826|-1.0826	10|5	0.42905|.	T|.	0.14|.	.|.	4.6506|4.6506	0.12592|0.12592	0.1278:0.4869:0.3006:0.0847|0.1278:0.4869:0.3006:0.0847	.|.	67|.	Q6UY11|.	DLK2_HUMAN|.	H|I	67|4	ENSP00000361563:Q67H;ENSP00000361566:Q67H;ENSP00000349893:Q67H;ENSP00000398906:Q67H|.	ENSP00000349893:Q67H|.	Q|S	-|-	3|2	2|0	DLK2|DLK2	43528791|43528791	0.860000|0.860000	0.29831|0.29831	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	-0.042000|-0.042000	0.12063|0.12063	1.115000|1.115000	0.41800|0.41800	-0.350000|-0.350000	0.07774|0.07774	CAG|AGC	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040618.1		-	ENST00000357338.3	Missense_Mutation	SNP	6 : 43420813 - 43420813 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	258	59
CHD4	1108	broad.mit.edu	37	12	6687287	6687287	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6687287C>T	ENST00000544484.1	-	35	5357	c.5211G>A	c.(5209-5211)tgG>tgA	p.W1737*	CHD4_ENST00000357008.2_Nonsense_Mutation_p.W1712*|CHD4_ENST00000544040.1_Nonsense_Mutation_p.W1705*|CHD4_ENST00000309577.6_Nonsense_Mutation_p.W1740*			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1712	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CTTCATTCTGCCAAAGGGAGT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(32;586 792 4568 16848 45314)							NA				0													79	74	76			NA	NA	12		NA											NA				6687287		2203	4300	6503	SO:0001587	stop_gained			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642	1108	1108		Zinc fingers, PHD-type	1919	protein-coding gene	gene with protein product		603277			NA	7575689, 8843877	Standard	NM_001273	XM_006718958	NA	Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000544484.1:c.5211G>A	12.37:g.6687287C>T	ENSP00000440392:p.Trp1737*	NA	Q8IXZ5	37		.	.	.	.	.	.	.	.	.	.	C	47	13.235734	0.99729	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7859	0.96437	0.0:1.0:0.0:0.0	.	.	.	.	X	1737;1705;1740;1712;1686	.	ENSP00000312419:W1740X	W	-	3	0	CHD4	6557548	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.746000	0.94184	0.655000	0.94253	TGG	CHD4-013	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000402631.1		-	ENST00000544484.1	Nonsense_Mutation	SNP	12 : 6687287 - 6687287 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	389	79
MUC17	140453	broad.mit.edu	37	7	100676247	100676247	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100676247C>T	ENST00000306151.4	+	3	1614	c.1550C>T	c.(1549-1551)tCt>tTt	p.S517F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	517	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					ACAAGTATGTCTGTCAGCACC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													347	350	349			NA	NA	7		NA											NA				100676247		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.1550C>T	7.37:g.100676247C>T	ENSP00000302716:p.Ser517Phe	NA	O14761|Q685J2|Q8TDH7	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	1.455	-0.563994	0.03939	.	.	ENSG00000169876	ENST00000306151	T	0.02682	4.2	1.45	-1.07	0.09968	.	.	.	.	.	T	0.01222	0.0040	N	0.08118	0	0.09310	N	1	P	0.47034	0.889	B	0.31290	0.127	T	0.51795	-0.8660	9	0.37606	T	0.19	.	6.7974	0.23732	0.4807:0.5193:0.0:0.0	.	517	Q685J3	MUC17_HUMAN	F	517	ENSP00000302716:S517F	ENSP00000302716:S517F	S	+	2	0	MUC17	100462967	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.200000	0.03029	-0.270000	0.09285	-0.529000	0.04317	TCT	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347161.1		+	ENST00000306151.4	Missense_Mutation	SNP	7 : 100676247 - 100676247 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2633	78
CROT	54677	broad.mit.edu	37	7	87004992	87004992	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87004992G>T	ENST00000419147.2	+	9	984	c.785G>T	c.(784-786)gGa>gTa	p.G262V	CROT_ENST00000331536.3_Missense_Mutation_p.G234V|CROT_ENST00000442291.1_Missense_Mutation_p.G234V	NM_001143935.1	NP_001137407.1	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	234					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	GAACCTGATGGACCTGGGATT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	132	136			NA	NA	7		NA											NA				87004992		2203	4300	6503	SO:0001583	missense				CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469	54677	54677			2366	protein-coding gene	gene with protein product		606090			NA	10486279	Standard	NM_021151	NM_021151	NA	Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000419147.2:c.785G>T	7.37:g.87004992G>T	ENSP00000413575:p.Gly262Val	NA	A4D1D6|Q8IUW9|Q9Y6I2	37	CCDS47634.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735886	0.89482	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.90004	-2.6;-2.6;-2.6	6.02	6.02	0.97574	.	0.046628	0.85682	D	0.000000	D	0.95642	0.8583	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.75484	0.986;0.983	D	0.94444	0.7661	10	0.34782	T	0.22	-26.1183	18.7212	0.91694	0.0:0.0:1.0:0.0	.	262;234	E7EQF2;Q9UKG9	.;OCTC_HUMAN	V	262;234;234	ENSP00000413575:G262V;ENSP00000331981:G234V;ENSP00000411983:G234V	ENSP00000331981:G234V	G	+	2	0	CROT	86842928	1.000000	0.71417	0.951000	0.38953	0.994000	0.84299	7.890000	0.87313	2.865000	0.98341	0.655000	0.94253	GGA	CROT-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334713.1		+	ENST00000419147.2	Missense_Mutation	SNP	7 : 87004992 - 87004992 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	522	47
PRAM1	84106	broad.mit.edu	37	19	8555240	8555240	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8555240C>T	ENST00000423345.4	-	9	2477	c.1957G>A	c.(1957-1959)Gat>Aat	p.D653N	PRAM1_ENST00000255612.3_Missense_Mutation_p.D652N			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	701	SH3.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						TCGACATCATCGTACACCTCC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	67	65			NA	NA	19		NA											NA				8555240		2167	4255	6422	SO:0001583	missense			BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246	84106	84106			30091	protein-coding gene	gene with protein product		606466			NA	11301322, 15572693	Standard	NM_032152	NM_032152	NA	Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.1957G>A	19.37:g.8555240C>T	ENSP00000408342:p.Asp653Asn	NA	Q8N6W7	37	CCDS45954.2	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853240	0.51270	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.43688	0.94;0.94	4.47	4.47	0.54385	.	0.000000	0.39274	N	0.001417	T	0.48277	0.1491	N	0.24115	0.695	0.42879	D	0.994165	D;D	0.76494	0.998;0.999	D;D	0.70227	0.966;0.968	T	0.52624	-0.8551	10	0.87932	D	0	.	12.8225	0.57700	0.0:1.0:0.0:0.0	.	653;701	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	N	652;653	ENSP00000255612:D652N;ENSP00000408342:D653N	ENSP00000255612:D652N	D	-	1	0	PRAM1	8461240	0.586000	0.26782	0.633000	0.29310	0.025000	0.11179	3.641000	0.54360	2.470000	0.83445	0.462000	0.41574	GAT	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397040.3		-	ENST00000423345.4	Missense_Mutation	SNP	19 : 8555240 - 8555240 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	318	65
SYT4	6860	broad.mit.edu	37	18	40853833	40853833	+	Silent	SNP	C	C	T	rs138240289		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:40853833C>T	ENST00000255224.3	-	2	929	c.561G>A	c.(559-561)tcG>tcA	p.S187S	SYT4_ENST00000590752.1_Silent_p.S169S|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	187	C2 1.|Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CAGAGGTCATCGACTGCTCAT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(85;81 1419 2855 22820 35912)							NA				0								C		0,4406		0,0,2203	72	71	72		561	-11.7	0	18	dbSNP_134	72	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	SYT4	NM_020783.3		0,2,6500	TT,TC,CC	NA	0.0233,0.0,0.0154		187/426	40853833	2,13002	2203	4299	6502	SO:0001819	synonymous_variant			BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872	6860	6860		Synaptotagmins	11512	protein-coding gene	gene with protein product		600103			NA	8058779	Standard	NM_020783	NM_020783	NA	Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.561G>A	18.37:g.40853833C>T		NA	Q9P2K4	37	CCDS11922.1																																																																																			SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255851.2		-	ENST00000255224.3	Silent	SNP	18 : 40853833 - 40853833 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	272	78
AMER3	205147	broad.mit.edu	37	2	131521670	131521670	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131521670C>T	ENST00000423981.1	+	2	2135	c.2025C>T	c.(2023-2025)ggC>ggT	p.G675G	AMER3_ENST00000321420.4_Silent_p.G675G	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3	NA											NA						TGCTGGCAGGCTGTGTGGCCC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	23	23			NA	NA	2		NA											NA				131521670		2201	4299	6500	SO:0001819	synonymous_variant			AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171	205147	205147		-	26771	protein-coding gene	gene with protein product			family with sequence similarity 123C	FAM123C	NA	20843316	Standard	NM_152698	NM_001105195	NA	Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.2025C>T	2.37:g.131521670C>T		NA		37	CCDS2164.1																																																																																			AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254531.3		+	ENST00000423981.1	Silent	SNP	2 : 131521670 - 131521670 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	108	16
RRAD	6236	broad.mit.edu	37	16	66956090	66956090	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66956090C>A	ENST00000299759.6	-	5	1066	c.816G>T	c.(814-816)gaG>gaT	p.E272D	RRAD_ENST00000420652.1_Missense_Mutation_p.E272D			P55042	RAD_HUMAN	Ras-related associated with diabetes	272					small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		TGCCAAGGCTCTCTCGCCTCC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	77	84			NA	NA	16		NA											NA				66956090		2200	4300	6500	SO:0001583	missense			L24564	CCDS10824.1	16q22	2014-05-09			ENSG00000166592	ENSG00000166592	6236	6236			10446	protein-coding gene	gene with protein product		179503			NA	7859947	Standard	NM_004165	NM_004165	NA	Approved	REM3, RAD	uc002eqo.2	P55042	OTTHUMG00000137511	ENST00000299759.6:c.816G>T	16.37:g.66956090C>A	ENSP00000299759:p.Glu272Asp	NA	Q96F39	37	CCDS10824.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241458	0.79912	.	.	ENSG00000166592	ENST00000420652;ENST00000299759	T;T	0.68181	-0.31;-0.31	5.93	2.94	0.34122	.	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	M	0.77103	2.36	0.51482	D	0.999929	D	0.58970	0.984	D	0.66979	0.948	T	0.75233	-0.3390	10	0.42905	T	0.14	.	8.2417	0.31665	0.0:0.5943:0.0:0.4057	.	272	P55042	RAD_HUMAN	D	272	ENSP00000388744:E272D;ENSP00000299759:E272D	ENSP00000299759:E272D	E	-	3	2	RRAD	65513591	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.302000	0.43637	0.838000	0.34948	0.561000	0.74099	GAG	RRAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268830.1		-	ENST00000299759.6	Missense_Mutation	SNP	16 : 66956090 - 66956090 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	421	37
USP7	7874	broad.mit.edu	37	16	8993578	8993578	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8993578G>A	ENST00000344836.4	-	22	2544	c.2346C>T	c.(2344-2346)acC>acT	p.T782T	USP7_ENST00000381886.4_Silent_p.T766T|USP7_ENST00000535863.1_Silent_p.T683T	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	782	Interaction with ICP0/VMW110.				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ACTCCTTTGCGGTGGGTAATT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4393	2.1+/-5.4	0,1,2196	151	132	139		2346	-11.4	0.2	16		139	0,8600		0,0,4300	no	coding-synonymous	USP7	NM_003470.2		0,1,6496	AA,AG,GG	NA	0.0,0.0228,0.0077		782/1103	8993578	1,12993	2197	4300	6497	SO:0001819	synonymous_variant			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555	7874	7874		Ubiquitin-specific peptidases	12630	protein-coding gene	gene with protein product		602519	ubiquitin specific protease 7 (herpes virus-associated)	HAUSP	NA	12838346, 9925944	Standard		NM_003470	NA	Approved		uc002czl.2	Q93009		ENST00000344836.4:c.2346C>T	16.37:g.8993578G>A		NA	A6NMY8	37	CCDS32385.1																																																																																			USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434268.2		-	ENST00000344836.4	Silent	SNP	16 : 8993578 - 8993578 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	391	87
KCNJ12	3768	broad.mit.edu	37	17	21319408	21319408	+	Missense_Mutation	SNP	G	G	A	rs145578286	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:21319408G>A	ENST00000583088.1	+	3	1649	c.754G>A	c.(754-756)Gat>Aat	p.D252N	KCNJ12_ENST00000331718.5_Missense_Mutation_p.D252N	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12	NA										NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GATCGACATCGATGTGGGCTT	0.627		NA								Prostate(3;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ASN/ASP	0,4406		0,0,2203	133	97	109		754	4.4	0.1	17	dbSNP_134	109	9,8591	7.1+/-27.0	0,9,4291	yes	missense	KCNJ12	NM_021012.4	23	0,9,6494	AA,AG,GG	NA	0.1047,0.0,0.0692	benign	252/434	21319408	9,12997	2203	4300	6503	SO:0001583	missense			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185	3768	3768		Potassium channels, Voltage-gated ion channels / Potassium channels, Inwardly rectifying	6258	protein-coding gene	gene with protein product		602323	potassium inwardly-rectifying channel, subfamily J, inhibitor 1	KCNJN1	NA	7859381, 12417321, 16382105	Standard	NM_021012	NM_021012	NA	Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.754G>A	17.37:g.21319408G>A	ENSP00000463778:p.Asp252Asn	NA		37	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	4.144	0.025138	0.08054	0.0	0.001047	ENSG00000184185	ENST00000331718	D	0.93604	-3.25	5.42	4.44	0.53790	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.054033	0.64402	D	0.000001	T	0.79896	0.4525	N	0.03608	-0.345	0.41262	D	0.98678	B	0.13145	0.007	B	0.10450	0.005	T	0.72950	-0.4136	10	0.02654	T	1	.	9.037	0.36293	0.0735:0.0:0.778:0.1485	.	252	Q14500	IRK12_HUMAN	N	252	ENSP00000328150:D252N	ENSP00000328150:D252N	D	+	1	0	KCNJ12	21260001	1.000000	0.71417	0.112000	0.21494	0.991000	0.79684	4.590000	0.61013	1.279000	0.44446	0.650000	0.86243	GAT	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255060.2		+	ENST00000583088.1	Missense_Mutation	SNP	17 : 21319408 - 21319408 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	475	38
PLXNB3	5365	broad.mit.edu	37	X	153037356	153037356	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153037356C>T	ENST00000361971.5	+	15	2669	c.2555C>T	c.(2554-2556)gCc>gTc	p.A852V	PLXNB3_ENST00000538966.1_Missense_Mutation_p.A875V|PLXNB3_ENST00000538776.1_Missense_Mutation_p.A505V|PLXNB3_ENST00000538282.1_Missense_Mutation_p.A462V|PLXNB3_ENST00000538543.1_3'UTR	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	852	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGCTTGGCCCTCACCATC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	24	26			NA	NA	X		NA											NA				153037356		2179	4285	6464	SO:0001583	missense			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753	5365	5365		Plexins	9105	protein-coding gene	gene with protein product		300214		PLXN6	NA	10520995	Standard		NM_005393	NA	Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.2555C>T	X.37:g.153037356C>T	ENSP00000355378:p.Ala852Val	NA	Q9HDA4	37	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	C	0.573	-0.840269	0.02692	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	4.96	3.16	0.36331	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.345193	0.28109	N	0.016566	T	0.54271	0.1848	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.16802	0.002;0.019;0.002;0.002	B;B;B;B	0.18871	0.006;0.023;0.002;0.006	T	0.40079	-0.9582	10	0.27785	T	0.31	.	9.0453	0.36343	0.0:0.8066:0.0:0.1934	.	505;534;875;852	B7Z3H9;B7Z9A5;F5H773;Q9ULL4	.;.;.;PLXB3_HUMAN	V	875;852;505;462	ENSP00000442736:A875V;ENSP00000355378:A852V;ENSP00000445569:A505V;ENSP00000441919:A462V	ENSP00000355378:A852V	A	+	2	0	PLXNB3	152690550	0.000000	0.05858	0.962000	0.40283	0.003000	0.03518	0.759000	0.26461	0.875000	0.35847	0.513000	0.50165	GCC	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000061063.1		+	ENST00000361971.5	Missense_Mutation	SNP	X : 153037356 - 153037356 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	125	33
PCBP3	54039	broad.mit.edu	37	21	47330914	47330914	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47330914C>T	ENST00000400314.1	+	9	908	c.570C>T	c.(568-570)tgC>tgT	p.C190C	PCBP3_ENST00000449640.1_Silent_p.C190C|PCBP3_ENST00000400310.1_Silent_p.C190C|PCBP3_ENST00000400308.1_Silent_p.C190C|PCBP3_ENST00000400304.1_Silent_p.C158C|PCBP3_ENST00000400309.1_Silent_p.C190C			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	190					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		TCATCCAGTGCGTCAAGCAGA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	96	94			NA	NA	21		NA											NA				47330914		2184	4283	6467	SO:0001819	synonymous_variant			AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570	54039	54039			8651	protein-coding gene	gene with protein product		608502	poly(rC)-binding protein 3		NA	10936052	Standard		NM_020528	NA	Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.570C>T	21.37:g.47330914C>T		NA	A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	37	CCDS42974.2																																																																																			PCBP3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206808.2		+	ENST00000400314.1	Silent	SNP	21 : 47330914 - 47330914 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	382	72
HERC2	8924	broad.mit.edu	37	15	28357165	28357165	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28357165T>C	ENST00000261609.7	-	93	14357	c.14249A>G	c.(14248-14250)aAc>aGc	p.N4750S		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4750	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTCTGGAGGGTTGTATTTATC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	71	75			NA	NA	15		NA											NA				28357165		2203	4300	6503	SO:0001583	missense			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731	8924	8924			4868	protein-coding gene	gene with protein product		605837	hect domain and RLD 2		NA	9949213	Standard	NM_004667	NM_004667	NA	Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.14249A>G	15.37:g.28357165T>C	ENSP00000261609:p.Asn4750Ser	NA	Q86SV7|Q86SV8|Q86SV9|Q86YY3|Q86YY4|Q86YY5|Q86YY6|Q86YY7|Q86YY8|Q86YY9|Q86YZ0|Q86YZ1	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.027429	0.75390	.	.	ENSG00000128731	ENST00000261609	T	0.41400	1.0	5.84	4.72	0.59763	HECT (4);	0.045918	0.85682	N	0.000000	T	0.46658	0.1404	L	0.27053	0.805	0.80722	D	1	P;B	0.49090	0.919;0.034	P;B	0.60173	0.87;0.038	T	0.40098	-0.9581	10	0.46703	T	0.11	.	11.797	0.52106	0.0:0.0683:0.0:0.9317	.	4750;439	O95714;Q8ND39	HERC2_HUMAN;.	S	4750	ENSP00000261609:N4750S	ENSP00000261609:N4750S	N	-	2	0	HERC2	26030760	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.519000	0.53458	1.039000	0.40074	0.533000	0.62120	AAC	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251358.2		-	ENST00000261609.7	Missense_Mutation	SNP	15 : 28357165 - 28357165 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	444	38
TMED10	10972	broad.mit.edu	37	14	75643079	75643079	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75643079G>A	ENST00000303575.4	-	1	255	c.204C>T	c.(202-204)ggC>ggT	p.G68G		NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)	68	GOLD.				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		TGCGCAGGCCGCCAGCGCCCC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	53	52			NA	NA	14		NA											NA				75643079		2203	4300	6503	SO:0001819	synonymous_variant			AL832012, X97442	CCDS9840.1	14q24.3	2008-08-11			ENSG00000170348	ENSG00000170348	10972	10972			16998	protein-coding gene	gene with protein product		605406			NA	7596406, 8663407	Standard	NM_006827	NM_006827	NA	Approved	TMP21, P24(DELTA)	uc001xrm.1	P49755		ENST00000303575.4:c.204C>T	14.37:g.75643079G>A		NA	B2R605|Q15602|Q16536|Q86TC2|Q86TS5	37	CCDS9840.1																																																																																			TMED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415034.1		-	ENST00000303575.4	Silent	SNP	14 : 75643079 - 75643079 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	642	152
AP4B1	10717	broad.mit.edu	37	1	114442925	114442925	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114442925G>T	ENST00000369569.1	-	5	995	c.715C>A	c.(715-717)Ctg>Atg	p.L239M	AP4B1_ENST00000256658.4_Missense_Mutation_p.L239M|AP4B1_ENST00000369566.3_Missense_Mutation_p.L146M|AP4B1_ENST00000369567.1_Missense_Mutation_p.L71M|AP4B1-AS1_ENST00000419536.1_RNA	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	239					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTATCCAACAGATTGAGAATG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	92	94			NA	NA	1		NA											NA				114442925		2203	4300	6503	SO:0001583	missense			AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262	10717	10717			572	protein-coding gene	gene with protein product	beta 4 subunit of AP-4	607245	spastic paraplegia 47	SPG47	NA	10066790	Standard	NM_006594	NM_006594	NA	Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.715C>A	1.37:g.114442925G>T	ENSP00000358582:p.Leu239Met	NA	Q59EJ4|Q96CL6	37	CCDS865.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310287	0.60414	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369564;ENST00000432415;ENST00000369571	T;T;T;T;T;T;T	0.26518	1.73;1.73;1.73;2.52;1.73;1.73;1.73	5.2	2.25	0.28309	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.070081	0.64402	D	0.000014	T	0.30070	0.0753	M	0.78456	2.415	0.52501	D	0.999951	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.81914	0.993;0.994;0.995;0.994	T	0.08911	-1.0699	10	0.36615	T	0.2	-4.2859	4.4719	0.11717	0.3052:0.0:0.5495:0.1454	.	146;71;239;140	B7Z4X3;B1ALD0;Q9Y6B7;B4DTG3	.;.;AP4B1_HUMAN;.	M	71;239;239;146;164;71;239	ENSP00000358580:L71M;ENSP00000358582:L239M;ENSP00000256658:L239M;ENSP00000358579:L146M;ENSP00000358577:L164M;ENSP00000393622:L71M;ENSP00000358584:L239M	ENSP00000256658:L239M	L	-	1	2	AP4B1	114244448	1.000000	0.71417	0.989000	0.46669	0.937000	0.57800	2.477000	0.45180	0.270000	0.21984	-0.258000	0.10820	CTG	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033037.1		-	ENST00000369569.1	Missense_Mutation	SNP	1 : 114442925 - 114442925 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	375	40
DACT1	51339	broad.mit.edu	37	14	59105255	59105255	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59105255G>A	ENST00000395153.3	+	1	482	c.335G>A	c.(334-336)aGa>aAa	p.R112K	DACT1_ENST00000556859.1_Intron|DACT1_ENST00000335867.4_Missense_Mutation_p.R112K|DACT1_ENST00000555845.1_Intron	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	112					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TTGCTGCTAAGAAAGCAATTG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	32	31			NA	NA	14		NA											NA				59105255		1973	4143	6116	SO:0001583	missense			AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617	51339	51339			17748	protein-coding gene	gene with protein product		607861	dapper homolog 1, antagonist of beta-catenin (xenopus), dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)		NA	11970895	Standard	NM_016651	NM_001079520	NA	Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000395153.3:c.335G>A	14.37:g.59105255G>A	ENSP00000378582:p.Arg112Lys	NA	Q86TY0	37	CCDS41961.1	.	.	.	.	.	.	.	.	.	.	G	3.792	-0.043459	0.07452	.	.	ENSG00000165617	ENST00000395153;ENST00000335867	T;T	0.44482	0.92;0.92	3.3	3.3	0.37823	.	0.070956	0.49916	D	0.000127	T	0.22399	0.0540	L	0.31420	0.93	0.80722	D	1	B;B	0.31318	0.079;0.319	B;B	0.26416	0.039;0.069	T	0.08166	-1.0735	10	0.02654	T	1	-9.7086	8.7631	0.34687	0.107:0.0:0.893:0.0	.	112;112	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	K	112	ENSP00000378582:R112K;ENSP00000337439:R112K	ENSP00000337439:R112K	R	+	2	0	DACT1	58175008	1.000000	0.71417	0.999000	0.59377	0.197000	0.23852	4.141000	0.58038	1.673000	0.50895	0.313000	0.20887	AGA	DACT1-002	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276939.2		+	ENST00000395153.3	Missense_Mutation	SNP	14 : 59105255 - 59105255 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	124	19
THSD7A	221981	broad.mit.edu	37	7	11676485	11676485	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11676485G>A	ENST00000423059.4	-	2	545	c.294C>T	c.(292-294)aaC>aaT	p.N98N	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	NA	TSP type-1 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCTGCTTACAGTTAGTATGCA	0.512		NA								HNSCC(18;0.044)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	86	85			NA	NA	7		NA											NA				11676485		2038	4193	6231	SO:0001819	synonymous_variant				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108	221981	221981			22207	protein-coding gene	gene with protein product		612249			NA		Standard	XM_928187.2	NM_015204	NA	Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.294C>T	7.37:g.11676485G>A		NA		37	CCDS47543.1																																																																																			THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325944.4		-	ENST00000423059.4	Silent	SNP	7 : 11676485 - 11676485 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	479	83
MARK3	4140	broad.mit.edu	37	14	103969356	103969356	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103969356C>T	ENST00000429436.2	+	18	2564	c.2054C>T	c.(2053-2055)gCc>gTc	p.A685V	MARK3_ENST00000416682.2_Missense_Mutation_p.A684V|MARK3_ENST00000303622.9_Missense_Mutation_p.A661V|MARK3_ENST00000335102.5_Missense_Mutation_p.A708V|MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000216288.7_Missense_Mutation_p.A645V|MARK3_ENST00000553942.1_Missense_Mutation_p.A676V|MARK3_ENST00000440884.3_Missense_Mutation_p.A591V	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	685							ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			GTGTTGGACGCCAATAACTGC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	73	72			NA	NA	14		NA											NA				103969356		2062	4221	6283	SO:0001583	missense			M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413	4140	4140			6897	protein-coding gene	gene with protein product		602678			NA	9533022	Standard	NM_001128918	NM_002376	NA	Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.2054C>T	14.37:g.103969356C>T	ENSP00000411397:p.Ala685Val	NA	O60219|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	37	CCDS45165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.3|29.3	4.994032|4.994032	0.93167|0.93167	.|.	.|.	ENSG00000075413|ENSG00000075413	ENST00000335102;ENST00000411530;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942;ENST00000556744|ENST00000554627	T;T;T;T;T;T;T;T|.	0.54866|.	0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Kinase-associated KA1 (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81983|0.81983	0.4938|0.4938	M|M	0.79011|0.79011	2.435|2.435	0.80722|0.80722	D|D	1|1	P;B;B;B;B;B;D;B;B|.	0.63046|.	0.943;0.347;0.272;0.338;0.434;0.062;0.992;0.149;0.272|.	P;B;B;B;B;B;P;B;B|.	0.58721|.	0.844;0.075;0.209;0.03;0.249;0.178;0.778;0.139;0.209|.	T|T	0.79955|0.79955	-0.1585|-0.1585	10|5	0.72032|.	D|.	0.01|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	692;263;684;394;645;685;591;676;661|.	P27448-7;A2SY06;P27448-2;B4DKN1;P27448-6;P27448;Q86TT8;P27448-4;P27448-3|.	.;.;.;.;.;MARK3_HUMAN;.;.;.|.	V|S	708;377;591;684;685;661;645;676;263|437	ENSP00000335347:A708V;ENSP00000402104:A591V;ENSP00000408092:A684V;ENSP00000411397:A685V;ENSP00000303698:A661V;ENSP00000216288:A645V;ENSP00000450772:A676V;ENSP00000451623:A263V|.	ENSP00000216288:A676V|.	A|P	+|+	2|1	0|0	MARK3|MARK3	103039109|103039109	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.858000|0.858000	0.48976|0.48976	5.875000|5.875000	0.69660|0.69660	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCC|CCA	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415144.1		+	ENST00000429436.2	Missense_Mutation	SNP	14 : 103969356 - 103969356 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	59
TNFAIP3	7128	broad.mit.edu	37	6	138200249	138200249	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138200249C>A	ENST00000237289.4	+	7	1733	c.1667C>A	c.(1666-1668)cCt>cAt	p.P556H		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	556	Interaction with NAF1 (By similarity).				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		ACCAGCCTCCCTCCTTCCTGT	0.602		NA	D, N, F		marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(130;153 1739 22295 28918 47987)		Rec	yes		6	6q23	7128	tumor necrosis factor, alpha-induced protein 3		L	25	Whole gene deletion(25)	haematopoietic_and_lymphoid_tissue(25)											80	86	84			NA	NA	6		NA											NA				138200249		2203	4300	6503	SO:0001583	missense			M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503	7128	7128		OTU domain containing	11896	protein-coding gene	gene with protein product		191163			NA	2118515	Standard		NM_006290	NA	Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.1667C>A	6.37:g.138200249C>A	ENSP00000237289:p.Pro556His	NA	B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	37	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	C	7.100	0.573974	0.13623	.	.	ENSG00000118503	ENST00000237289;ENST00000535574;ENST00000544646	T	0.31510	1.49	5.66	3.89	0.44902	.	0.686361	0.15795	N	0.244243	T	0.14098	0.0341	L	0.54323	1.7	0.09310	N	1	P	0.45348	0.856	B	0.40101	0.319	T	0.05273	-1.0895	10	0.72032	D	0.01	-12.5527	8.7343	0.34519	0.0:0.7492:0.0:0.2508	.	556	P21580	TNAP3_HUMAN	H	556	ENSP00000237289:P556H	ENSP00000237289:P556H	P	+	2	0	TNFAIP3	138241942	0.000000	0.05858	0.002000	0.10522	0.061000	0.15899	0.342000	0.19926	0.753000	0.32945	-0.258000	0.10820	CCT	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042414.1		+	ENST00000237289.4	Missense_Mutation	SNP	6 : 138200249 - 138200249 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	497	96
UQCRFS1	7386	broad.mit.edu	37	19	29698753	29698753	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:29698753A>G	ENST00000304863.4	-	2	949	c.527T>C	c.(526-528)gTg>gCg	p.V176A		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	176					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			TCTATGACGCACAAACAGGGG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	119	117			NA	NA	19		NA											NA				29698753		2203	4300	6503	SO:0001583	missense			BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	7386	7386	1.10.2.2	Mitochondrial respiratory chain complex / Complex III	12587	protein-coding gene	gene with protein product	cytochrome b-c1 complex subunit 5	191327			NA	8088805	Standard	NM_006003	NM_006003	NA	Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.527T>C	19.37:g.29698753A>G	ENSP00000306397:p.Val176Ala	NA	A8K519|Q6NVX5|Q9UPH2	37	CCDS12415.1	.	.	.	.	.	.	.	.	.	.	A	18.33	3.601290	0.66445	.	.	ENSG00000169021	ENST00000304863	T	0.58358	0.34	5.42	5.42	0.78866	Ubiquinol-cytochrome c reductase, iron-sulphur subunit (1);Rieske [2Fe-2S] iron-sulphur domain (2);	0.000000	0.85682	D	0.000000	T	0.81754	0.4889	H	0.97440	4.005	0.80722	D	1	D	0.69078	0.997	D	0.72982	0.979	D	0.88316	0.2959	10	0.87932	D	0	.	14.6407	0.68723	1.0:0.0:0.0:0.0	.	176	P47985	UCRI_HUMAN	A	176	ENSP00000306397:V176A	ENSP00000306397:V176A	V	-	2	0	UQCRFS1	34390593	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	7.071000	0.76770	2.053000	0.61076	0.379000	0.24179	GTG	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458563.1		-	ENST00000304863.4	Missense_Mutation	SNP	19 : 29698753 - 29698753 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	767	111
RNF208	727800	broad.mit.edu	37	9	140115570	140115570	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140115570G>A	ENST00000392827.1	-	2	263	c.95C>T	c.(94-96)gCc>gTc	p.A32V	RNF208_ENST00000391553.1_Missense_Mutation_p.A32V			Q9H0X6	RN208_HUMAN	ring finger protein 208	32							zinc ion binding			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		AATCTTCATGGCCTCCATCTT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	20	19			NA	NA	9		NA											NA				140115570		1965	4147	6112	SO:0001583	missense			AF416715	CCDS7037.2	9q34.3	2007-01-19				ENSG00000212864	727800	727800		RING-type (C3HC4) zinc fingers	25420	protein-coding gene	gene with protein product					NA	11230166	Standard	NM_031297	NM_031297	NA	Approved	DKFZP761H1710	uc004clz.2	Q9H0X6		ENST00000392827.1:c.95C>T	9.37:g.140115570G>A	ENSP00000376572:p.Ala32Val	NA	A2BFA0	37	CCDS7037.2	.	.	.	.	.	.	.	.	.	.	g	16.65	3.183072	0.57800	.	.	ENSG00000212864	ENST00000392827;ENST00000391553	T;T	0.36157	1.27;1.27	4.25	3.28	0.37604	.	.	.	.	.	T	0.24198	0.0586	N	0.14661	0.345	0.33036	D	0.53082	B	0.33612	0.419	B	0.35353	0.201	T	0.42032	-0.9475	9	0.87932	D	0	-12.8448	11.4687	0.50254	0.0:0.0:0.8194:0.1805	.	32	Q9H0X6	RN208_HUMAN	V	32	ENSP00000376572:A32V;ENSP00000375397:A32V	ENSP00000375397:A32V	A	-	2	0	RNF208	139235391	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.320000	0.59203	1.915000	0.55452	0.556000	0.70494	GCC	RNF208-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254714.1		-	ENST00000392827.1	Missense_Mutation	SNP	9 : 140115570 - 140115570 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	102	16
ASXL3	80816	broad.mit.edu	37	18	31326314	31326314	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31326314G>A	ENST00000269197.5	+	12	6502	c.6502G>A	c.(6502-6504)Gca>Aca	p.A2168T		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	2168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CAAAAGGGCAGCATCTGCAAT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	154	152			NA	NA	18		NA											NA				31326314		1906	4122	6028	SO:0001583	missense			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431	80816	80816			29357	protein-coding gene	gene with protein product		615115	KIAA1713, additional sex combs like 3 (Drosophila)	KIAA1713	NA	11214970	Standard		NM_030632	NA	Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.6502G>A	18.37:g.31326314G>A	ENSP00000269197:p.Ala2168Thr	NA	Q6ZMX6|Q96MU3|Q9UFC5	37	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699045	0.48307	.	.	ENSG00000141431	ENST00000269197	T	0.18960	2.18	6.17	5.31	0.75309	.	.	.	.	.	T	0.17450	0.0419	N	0.24115	0.695	0.41608	D	0.988892	B	0.20052	0.041	B	0.20184	0.028	T	0.02654	-1.1128	9	0.54805	T	0.06	.	15.6259	0.76855	0.0653:0.0:0.9347:0.0	.	2168	Q9C0F0	ASXL3_HUMAN	T	2168	ENSP00000269197:A2168T	ENSP00000269197:A2168T	A	+	1	0	ASXL3	29580312	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.456000	0.66665	1.634000	0.50500	0.655000	0.94253	GCA	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000441865.2		+	ENST00000269197.5	Missense_Mutation	SNP	18 : 31326314 - 31326314 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	926	183
MCM6	4175	broad.mit.edu	37	2	136610469	136610469	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136610469A>G	ENST00000264156.2	-	12	1703	c.1643T>C	c.(1642-1644)aTt>aCt	p.I548T	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	548	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)	GCGCCTGGCAATGGCATAATC	0.368		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													91	86	88			NA	NA	2		NA											NA				136610469		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.1643T>C	2.37:g.136610469A>G	ENSP00000264156:p.Ile548Thr	NA	B2R6H2|Q13504|Q99859	37	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.457286	0.84317	.	.	ENSG00000076003	ENST00000264156	T	0.09255	3.0	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.42832	0.1220	M	0.91090	3.175	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.54105	-0.8343	10	0.87932	D	0	-18.6403	16.0818	0.81010	1.0:0.0:0.0:0.0	.	548	Q14566	MCM6_HUMAN	T	548	ENSP00000264156:I548T	ENSP00000264156:I548T	I	-	2	0	MCM6	136326939	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.904000	0.92590	2.206000	0.71126	0.455000	0.32223	ATT	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254658.1		-	ENST00000264156.2	Missense_Mutation	SNP	2 : 136610469 - 136610469 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	306	77
NOS2	4843	broad.mit.edu	37	17	26115921	26115921	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26115921G>A	ENST00000313735.6	-	4	465	c.232C>T	c.(232-234)Cca>Tca	p.P78S		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	78					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GAGGACAATGGGGTTGCATCC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	156	156			NA	NA	17		NA											NA				26115921		2203	4300	6503	SO:0001583	missense			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	4843	4843	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	nitric oxide synthase 2A (inducible, hepatocytes)	NOS2A	NA	7682706	Standard	NM_000625	NM_000625	NA	Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.232C>T	17.37:g.26115921G>A	ENSP00000327251:p.Pro78Ser	NA	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	37	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.672902	0.29693	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.01629	4.72	5.86	2.53	0.30540	.	0.329526	0.28114	N	0.016542	T	0.01695	0.0054	L	0.40543	1.245	0.09310	N	1	B;B	0.16166	0.016;0.004	B;B	0.17979	0.02;0.003	T	0.43605	-0.9381	10	0.36615	T	0.2	.	4.3575	0.11185	0.0824:0.1292:0.5762:0.2122	.	78;78	F8WEM3;P35228	.;NOS2_HUMAN	S	78	ENSP00000327251:P78S	ENSP00000305638:P78S	P	-	1	0	NOS2	23140048	0.965000	0.33210	0.007000	0.13788	0.017000	0.09413	1.137000	0.31479	1.489000	0.48450	0.650000	0.86243	CCA	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255597.1		-	ENST00000313735.6	Missense_Mutation	SNP	17 : 26115921 - 26115921 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	923	157
FIGN	55137	broad.mit.edu	37	2	164468186	164468186	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:164468186G>A	ENST00000333129.3	-	3	470	c.156C>T	c.(154-156)taC>taT	p.Y52Y	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'UTR	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	52						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TCGCCCAGGCGTACTGATAGG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	132	132			NA	NA	2		NA											NA				164468186		2044	4195	6239	SO:0001819	synonymous_variant			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263	55137	55137		ATPases / AAA-type	13285	protein-coding gene	gene with protein product		605295			NA	11017077	Standard	NM_018086	XM_005246661	NA	Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.156C>T	2.37:g.164468186G>A		NA	B3KWM0|Q9H6M5|Q9NVZ9	37	CCDS2221.2																																																																																			FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157220.2		-	ENST00000333129.3	Silent	SNP	2 : 164468186 - 164468186 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	813	157
CDH4	1002	broad.mit.edu	37	20	60504702	60504702	+	Silent	SNP	C	C	T	rs8122772		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60504702C>T	ENST00000360469.5	+	13	2129	c.2041C>T	c.(2041-2043)Ctg>Ttg	p.L681L	CDH4_ENST00000543233.1_Silent_p.L607L	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	681	Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CATCCTGTACCTGGAGGCCGG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	98	109			NA	NA	20		NA											NA				60504702		2203	4300	6503	SO:0001819	synonymous_variant			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242	1002	1002		Cadherins / Major cadherins	1763	protein-coding gene	gene with protein product	R-Cadherin	603006			NA	10191097, 10516427	Standard	NM_001794	NM_001794	NA	Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2041C>T	20.37:g.60504702C>T		NA	Q2M208|Q5VZ44|Q9BZ05	37	CCDS13488.1																																																																																			CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079965.2		+	ENST00000360469.5	Silent	SNP	20 : 60504702 - 60504702 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	398	10
UGT3A1	133688	broad.mit.edu	37	5	35957307	35957307	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35957307G>A	ENST00000507113.1	-	4	1148	c.956C>T	c.(955-957)cCt>cTt	p.P319L	UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000503189.1_Missense_Mutation_p.P353L|UGT3A1_ENST00000274278.3_Missense_Mutation_p.P353L			Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	353						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTCACTCTGAGGAAGCCAGTC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	85	90			NA	NA	5		NA											NA				35957307		2203	4300	6503	SO:0001583	missense				CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626	133688	133688		UDP glucuronosyltransferases	26625	protein-coding gene	gene with protein product					NA		Standard	NM_152404	NM_152404	NA	Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000507113.1:c.956C>T	5.37:g.35957307G>A	ENSP00000426100:p.Pro319Leu	NA	Q8NAW4|Q96DM6	37		.	.	.	.	.	.	.	.	.	.	.	15.12	2.740034	0.49045	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113	D;D;D	0.83163	-1.69;-1.69;-1.69	3.01	3.01	0.34805	.	0.076413	0.52532	D	0.000061	D	0.93527	0.7934	H	0.96633	3.855	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.986;0.998;0.998	D	0.95307	0.8408	10	0.87932	D	0	.	13.5811	0.61903	0.0:0.0:1.0:0.0	.	319;353;353	E9PD17;B7Z8Q8;Q6NUS8	.;.;UD3A1_HUMAN	L	353;353;319	ENSP00000274278:P353L;ENSP00000427079:P353L;ENSP00000426100:P319L	ENSP00000274278:P353L	P	-	2	0	UGT3A1	35993064	1.000000	0.71417	0.997000	0.53966	0.243000	0.25628	7.165000	0.77544	1.615000	0.50252	0.467000	0.42956	CCT	UGT3A1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000367193.2		-	ENST00000507113.1	Missense_Mutation	SNP	5 : 35957307 - 35957307 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	243	39
KIAA1958	158405	broad.mit.edu	37	9	115336390	115336390	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115336390G>T	ENST00000337530.6	+	2	326	c.30G>T	c.(28-30)gaG>gaT	p.E10D	KIAA1958_ENST00000374244.3_Missense_Mutation_p.E10D|KIAA1958_ENST00000536272.1_Missense_Mutation_p.E10D	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	10										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CCTCATCTGAGAATCTGTCCA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	80	80			NA	NA	9		NA											NA				115336390		2203	4300	6503	SO:0001583	missense			AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185	158405	158405			23427	protein-coding gene	gene with protein product					NA		Standard	NM_133465	NM_001287038	NA	Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.30G>T	9.37:g.115336390G>T	ENSP00000336940:p.Glu10Asp	NA	Q2M336|Q5T252|Q8TF43|Q96N02	37	CCDS35108.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825386	0.32237	.	.	ENSG00000165185	ENST00000337530;ENST00000374244;ENST00000536272	.	.	.	5.92	2.76	0.32466	.	0.000000	0.64402	D	0.000001	T	0.17109	0.0411	N	0.03608	-0.345	0.35121	D	0.767021	P;B	0.38020	0.615;0.384	B;B	0.36186	0.219;0.112	T	0.15093	-1.0449	9	0.45353	T	0.12	-2.8457	5.2392	0.15462	0.5361:0.0:0.4639:0.0	.	10;10	B7ZKW6;Q8N8K9	.;K1958_HUMAN	D	10	.	ENSP00000336940:E10D	E	+	3	2	KIAA1958	114376211	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.605000	0.46283	0.855000	0.35359	-0.266000	0.10368	GAG	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053690.1		+	ENST00000337530.6	Missense_Mutation	SNP	9 : 115336390 - 115336390 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	424	77
RANBP2	5903	broad.mit.edu	37	2	109367806	109367806	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109367806C>T	ENST00000283195.6	+	10	1486	c.1360C>T	c.(1360-1362)Cga>Tga	p.R454*		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	454					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ACCTGGAATCCGAAAATGGCT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	51	49			NA	NA	2		NA											NA				109367806		1508	2702	4210	SO:0001587	stop_gained			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201	5903	5903		Tetratricopeptide (TTC) repeat domain containing	9848	protein-coding gene	gene with protein product		601181	acute necrotizing encephalopathy 1 (autosomal dominant)	ANE1	NA	7724562, 19118815	Standard	NM_006267	NM_006267	NA	Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1360C>T	2.37:g.109367806C>T	ENSP00000283195:p.Arg454*	NA	Q13074|Q15280|Q53TE2|Q59FH7	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	38	7.129996	0.98085	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	.	.	.	4.97	4.09	0.47781	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.3898	15.8284	0.78733	0.0:0.8639:0.1361:0.0	.	.	.	.	X	454	.	ENSP00000283195:R454X	R	+	1	2	RANBP2	108734238	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	2.491000	0.45303	1.211000	0.43351	0.650000	0.86243	CGA	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253594.1		+	ENST00000283195.6	Nonsense_Mutation	SNP	2 : 109367806 - 109367806 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	597	196
NHLRC3	387921	broad.mit.edu	37	13	39621894	39621894	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39621894G>T	ENST00000470258.1	+	7	946	c.284G>T	c.(283-285)aGc>aTc	p.S95I	NHLRC3_ENST00000379600.3_Missense_Mutation_p.S292I|NHLRC3_ENST00000379599.2_Missense_Mutation_p.S225I			Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	292						extracellular region				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		CCAGTGGGAAGCATTGGGGAG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	73	74			NA	NA	13		NA											NA				39621894		2203	4300	6503	SO:0001583	missense				CCDS31961.1, CCDS31962.1	13q13.3	2007-12-18			ENSG00000188811	ENSG00000188811	387921	387921			33751	protein-coding gene	gene with protein product					NA		Standard	NM_001012754	NM_001017370	NA	Approved		uc001uxc.4	Q5JS37	OTTHUMG00000016765	ENST00000470258.1:c.284G>T	13.37:g.39621894G>T	ENSP00000418127:p.Ser95Ile	NA	B2RTZ2|Q69YI9	37		.	.	.	.	.	.	.	.	.	.	G	7.156	0.584687	0.13749	.	.	ENSG00000188811	ENST00000470258;ENST00000379600;ENST00000379599	T;T;T	0.65364	-0.12;-0.15;-0.09	5.46	-1.72	0.08107	Six-bladed beta-propeller, TolB-like (1);	0.843236	0.11418	N	0.566115	T	0.44435	0.1293	L	0.47716	1.5	0.19300	N	0.999979	B;B	0.27625	0.183;0.138	B;B	0.24541	0.039;0.054	T	0.27054	-1.0085	9	.	.	.	-0.0242	1.6697	0.02809	0.3817:0.2268:0.277:0.1146	.	225;292	B4DTL0;Q5JS37	.;NHLC3_HUMAN	I	95;292;225	ENSP00000418127:S95I;ENSP00000368920:S292I;ENSP00000368919:S225I	.	S	+	2	0	NHLRC3	38519894	0.001000	0.12720	0.102000	0.21198	0.486000	0.33341	0.046000	0.14035	-0.188000	0.10499	0.563000	0.77884	AGC	NHLRC3-001	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000044612.2		+	ENST00000470258.1	Missense_Mutation	SNP	13 : 39621894 - 39621894 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	245	40
INTS10	55174	broad.mit.edu	37	8	19681555	19681555	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19681555G>A	ENST00000397977.3	+	7	1234	c.836G>A	c.(835-837)cGa>cAa	p.R279Q		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	279					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		AAAGGAAGACGGTAATAAATA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	107	109			NA	NA	8		NA											NA				19681555		1855	4089	5944	SO:0001630	splice_region_variant			AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613	55174	55174			25548	protein-coding gene	gene with protein product		611353	chromosome 8 open reading frame 35	C8orf35	NA	16239144	Standard	NM_018142	XM_005273558	NA	Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.836+1G>A	8.37:g.19681555G>A		NA	Q6IA93|Q7L538|Q7L8C8|Q9H3W8	37	CCDS6011.2	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876160	0.91664	.	.	ENSG00000104613	ENST00000397977	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.74099	0.3672	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.73388	-0.3998	9	0.51188	T	0.08	-10.739	18.5013	0.90882	0.0:0.0:1.0:0.0	.	279	Q9NVR2	INT10_HUMAN	Q	279	.	ENSP00000381064:R279Q	R	+	2	0	INTS10	19725835	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.225000	0.78051	2.717000	0.92951	0.650000	0.86243	CGA	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253724.2	Missense_Mutation	+	ENST00000397977.3	Splice_Site	SNP	8 : 19681555 - 19681555 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	537	91
PCDHB14	56122	broad.mit.edu	37	5	140605012	140605012	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140605012G>T	ENST00000239449.4	+	1	1935	c.1935G>T	c.(1933-1935)aaG>aaT	p.K645N	PCDHB14_ENST00000515856.2_Missense_Mutation_p.K492N	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	645	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGGTCAAGGACAATGGCG	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(141;50 1831 27899 33809 37648)							NA				0													12	14	14			NA	NA	5		NA											NA				140605012		1766	3717	5483	SO:0001583	missense			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327	56122	56122		Cadherins / Protocadherins : Clustered	8685	other	protocadherin		606340			NA	10380929	Standard	NM_018934	NM_018934	NA	Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1935G>T	5.37:g.140605012G>T	ENSP00000239449:p.Lys645Asn	NA	Q4FZA4|Q4KN11	37	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	10.38	1.335100	0.24253	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.53640	0.61;0.61	3.9	2.99	0.34606	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.61426	0.2346	M	0.70787	2.145	0.26717	N	0.970869	D	0.53745	0.962	P	0.61658	0.892	T	0.51888	-0.8648	9	0.87932	D	0	.	8.0146	0.30374	0.0925:0.1633:0.7443:0.0	.	645	Q9Y5E9	PCDBE_HUMAN	N	492;645	ENSP00000444518:K492N;ENSP00000239449:K645N	ENSP00000239449:K645N	K	+	3	2	PCDHB14	140585196	0.013000	0.17824	0.933000	0.37362	0.221000	0.24807	0.095000	0.15127	0.707000	0.31934	0.650000	0.86243	AAG	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251814.2		+	ENST00000239449.4	Missense_Mutation	SNP	5 : 140605012 - 140605012 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	727	131
VPREB3	29802	broad.mit.edu	37	22	24095296	24095296	+	Missense_Mutation	SNP	C	C	T	rs146725149	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24095296C>T	ENST00000398465.3	-	2	136	c.91G>A	c.(91-93)Gtc>Atc	p.V31I	VPREB3_ENST00000248948.3_Missense_Mutation_p.V47I			Q9UKI3	VPRE3_HUMAN	pre-B lymphocyte 3	47	Ig-like.					endoplasmic reticulum				large_intestine(1)|lung(1)|skin(1)	3		Medulloblastoma(6;7.87e-06)|all_neural(6;0.00334)				CTGATGGTGACGTGCTGGGGG	0.632		NA											C	7	0.0032	0.01	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0032	0.9932	LOWCOV,EXOME	NA	NA	8e-04	SNP								NA				0								C	ILE/VAL	54,4352	53.6+/-89.4	1,52,2150	85	64	71		139	-5.8	0	22	dbSNP_134	71	0,8600		0,0,4300	yes	missense	VPREB3	NM_013378.2	29	1,52,6450	TT,TC,CC	NA	0.0,1.2256,0.4152	benign	47/124	24095296	54,12952	2203	4300	6503	SO:0001583	missense				CCDS13813.1	22q11.23	2013-01-11	2008-09-12		ENSG00000128218	ENSG00000128218	29802	29802		Immunoglobulin superfamily / V-set domain containing	12710	protein-coding gene	gene with protein product		605017			NA	10702669, 14670953	Standard	NM_013378	NM_013378	NA	Approved	8HS20	uc002zxt.3	Q9UKI3	OTTHUMG00000150738	ENST00000398465.3:c.91G>A	22.37:g.24095296C>T	ENSP00000381483:p.Val31Ile	NA	B2R587	37		7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	C	2.301	-0.360116	0.05103	0.012256	0.0	ENSG00000128218	ENST00000398465;ENST00000248948	T;T	0.32023	1.47;1.5	4.94	-5.77	0.02369	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.857165	0.09939	N	0.736197	T	0.04679	0.0127	N	0.05351	-0.065	0.09310	N	1	P	0.39847	0.691	B	0.31946	0.138	T	0.34527	-0.9825	10	0.02654	T	1	.	1.0886	0.01659	0.2221:0.2842:0.1094:0.3843	.	47	Q9UKI3	VPRE3_HUMAN	I	31;47	ENSP00000381483:V31I;ENSP00000248948:V47I	ENSP00000248948:V47I	V	-	1	0	VPREB3	22425296	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.017000	0.12590	-0.621000	0.05633	-0.534000	0.04291	GTC	VPREB3-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000319880.2		-	ENST00000398465.3	Missense_Mutation	SNP	22 : 24095296 - 24095296 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	168	11
ZNF665	79788	broad.mit.edu	37	19	53668976	53668976	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53668976T>C	ENST00000600412.1	-	2	687	c.572A>G	c.(571-573)cAt>cGt	p.H191R	ZNF665_ENST00000396424.3_Missense_Mutation_p.H256R			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CTCTCCAGTATGAATTCTCTG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	112	109			NA	NA	19		NA											NA				53668976		2203	4300	6503	SO:0001583	missense				CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497	79788	79788		Zinc fingers, C2H2-type, -	25885	protein-coding gene	gene with protein product					NA		Standard	NM_024733	NM_024733	NA	Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.572A>G	19.37:g.53668976T>C	ENSP00000469154:p.His191Arg	NA	A8K5T8	37		.	.	.	.	.	.	.	.	.	.	T	15.53	2.860023	0.51482	.	.	ENSG00000197497	ENST00000396424	T	0.67523	-0.27	2.44	0.146	0.14833	.	.	.	.	.	D	0.82351	0.5018	M	0.92122	3.275	0.23095	N	0.998303	D	0.89917	1.0	D	0.91635	0.999	T	0.69176	-0.5214	9	0.87932	D	0	.	6.2248	0.20701	0.0:0.2501:0.0:0.7499	.	256	Q9H7R5-2	.	R	256	ENSP00000379702:H256R	ENSP00000379702:H256R	H	-	2	0	ZNF665	58360788	0.998000	0.40836	0.000000	0.03702	0.372000	0.29890	4.080000	0.57620	-0.172000	0.10779	0.443000	0.29094	CAT	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000464179.1		-	ENST00000600412.1	Missense_Mutation	SNP	19 : 53668976 - 53668976 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	718	29
PREX1	57580	broad.mit.edu	37	20	47361598	47361598	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47361598C>A	ENST00000371941.3	-	3	400	c.378G>T	c.(376-378)caG>caT	p.Q126H	PREX1_ENST00000396220.1_Missense_Mutation_p.Q126H	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	126	DH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CATGCTGAGACTGCGGCTCCG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	139	137			NA	NA	20		NA											NA				47361598		2203	4300	6503	SO:0001583	missense			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126	57580	57580		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	32594	protein-coding gene	gene with protein product		606905			NA	11955434, 15545267, 16301320	Standard	NM_020820	NM_020820	NA	Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.378G>T	20.37:g.47361598C>A	ENSP00000361009:p.Gln126His	NA	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	9.019	0.984385	0.18889	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.63255	-0.03;-0.03	4.74	3.8	0.43715	Dbl homology (DH) domain (5);	0.000000	0.47093	U	0.000244	T	0.44180	0.1281	N	0.22421	0.69	0.50313	D	0.999863	B	0.14012	0.009	B	0.17979	0.02	T	0.29458	-1.0011	10	0.33141	T	0.24	.	7.7548	0.28917	0.0:0.7448:0.0:0.2552	.	126	Q8TCU6	PREX1_HUMAN	H	126	ENSP00000361009:Q126H;ENSP00000379522:Q126H	ENSP00000361009:Q126H	Q	-	3	2	PREX1	46795005	1.000000	0.71417	0.997000	0.53966	0.519000	0.34347	0.839000	0.27586	1.218000	0.43458	0.561000	0.74099	CAG	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079623.1		-	ENST00000371941.3	Missense_Mutation	SNP	20 : 47361598 - 47361598 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1059	49
IL7R	3575	broad.mit.edu	37	5	35876421	35876421	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35876421C>A	ENST00000303115.3	+	8	1342	c.1213C>A	c.(1213-1215)Ctg>Atg	p.L405M	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	405					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CCAGGACCTCCTGCTTAGCCT	0.542		NA	Mis, O		ALL, ETP ALL		Severe combined immune deficiency							NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		5	5p13	146661	interleukin 7 receptor	yes	L	0													106	91	96			NA	NA	5		NA											NA				35876421		2203	4300	6503	SO:0001583	missense			M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685	3575	3575		Interleukins and interleukin receptors, CD molecules, Fibronectin type III domain containing	6024	protein-coding gene	gene with protein product		146661			NA	2317865	Standard		NM_002185	NA	Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.1213C>A	5.37:g.35876421C>A	ENSP00000306157:p.Leu405Met	NA	B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	37	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	C	9.082	0.999598	0.19121	.	.	ENSG00000168685	ENST00000303115;ENST00000505875	T;T	0.56611	1.57;0.45	5.6	1.84	0.25277	.	1.733490	0.03338	N	0.194382	T	0.67832	0.2935	M	0.66939	2.045	0.09310	N	0.999999	D	0.76494	0.999	D	0.68192	0.956	T	0.30794	-0.9966	10	0.49607	T	0.09	-5.7828	4.1864	0.10400	0.1611:0.5833:0.0:0.2555	.	405	P16871	IL7RA_HUMAN	M	405;171	ENSP00000306157:L405M;ENSP00000420923:L171M	ENSP00000306157:L405M	L	+	1	2	IL7R	35912178	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.328000	0.19681	0.048000	0.15891	-0.961000	0.02630	CTG	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207577.2		+	ENST00000303115.3	Missense_Mutation	SNP	5 : 35876421 - 35876421 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	318	60
SLC44A2	57153	broad.mit.edu	37	19	10748582	10748582	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10748582C>T	ENST00000586078.1	+	18	1855	c.1746C>T	c.(1744-1746)ttC>ttT	p.F582F	SLC44A2_ENST00000335757.5_Silent_p.F582F|SLC44A2_ENST00000588214.1_3'UTR|SLC44A2_ENST00000407327.4_Silent_p.F580F	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	582					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	ATGCCTTCTTCCTGCTCATGA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	131	136			NA	NA	19		NA											NA				10748582		2203	4300	6503	SO:0001819	synonymous_variant			AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353	57153	57153		Solute carriers	17292	protein-coding gene	gene with protein product		606106			NA	10677542, 15715662	Standard		NM_001145056	NA	Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000586078.1:c.1746C>T	19.37:g.10748582C>T		NA	B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	37																																																																																				SLC44A2-003	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000452048.1		+	ENST00000586078.1	Silent	SNP	19 : 10748582 - 10748582 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	926	90
MYO5B	4645	broad.mit.edu	37	18	47363197	47363197	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47363197C>T	ENST00000285039.7	-	38	5496	c.5197G>A	c.(5197-5199)Gca>Aca	p.A1733T	SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000592688.1_Missense_Mutation_p.A303T|MYO5B_ENST00000324581.6_Missense_Mutation_p.A848T|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.A56T	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1733	Dilute.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GTCTGAACTGCTCCACTCTGG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	THR/ALA	0,3860		0,0,1930	70	66	67		5197	5	0.9	18		67	1,8255		0,1,4127	no	missense	MYO5B	NM_001080467.2	58	0,1,6057	TT,TC,CC	NA	0.0121,0.0,0.0083	probably-damaging	1733/1849	47363197	1,12115	1930	4128	6058	SO:0001583	missense			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306	4645	4645		Myosins / Myosin superfamily : Class V	7603	protein-coding gene	gene with protein product		606540			NA	8884266, 17462998	Standard		NM_001080467	NA	Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.5197G>A	18.37:g.47363197C>T	ENSP00000285039:p.Ala1733Thr	NA	B0I1R3	37	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	C	34	5.337726	0.95758	0.0	1.21E-4	ENSG00000167306	ENST00000285039;ENST00000324581	D;T	0.87729	-2.29;2.27	4.98	4.98	0.66077	Dilute (1);Dil domain (1);	0.000000	0.64402	D	0.000002	D	0.93249	0.7849	M	0.73962	2.25	0.58432	D	0.999999	D;D	0.89917	0.988;1.0	P;D	0.97110	0.893;1.0	D	0.93336	0.6705	10	0.59425	D	0.04	.	18.4226	0.90597	0.0:1.0:0.0:0.0	.	1733;848	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	T	1733;848	ENSP00000285039:A1733T;ENSP00000315531:A848T	ENSP00000285039:A1733T	A	-	1	0	MYO5B	45617195	1.000000	0.71417	0.900000	0.35374	0.992000	0.81027	5.913000	0.69957	2.738000	0.93877	0.655000	0.94253	GCA	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448515.2		-	ENST00000285039.7	Missense_Mutation	SNP	18 : 47363197 - 47363197 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	311	36
FANCD2	2177	broad.mit.edu	37	3	10107141	10107141	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10107141G>A	ENST00000287647.3	+	24	2325	c.2232G>A	c.(2230-2232)caG>caA	p.Q744Q	FANCD2_ENST00000419585.1_Silent_p.Q744Q|FANCD2_ENST00000383807.1_Silent_p.Q744Q|FANCD2_ENST00000383806.1_Silent_p.Q744Q	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	744					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGGAGAGACAGCATAACGGAA	0.428		NA	D, Mis, N, F			AML, leukemia		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Fanconi anaemia D2	3	3p26	2177	Fanconi anemia, complementation group D2		L	0													178	177	177			NA	NA	3		NA											NA				10107141		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554	2177	2177		Fanconi anemia, complementation groups	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD	NA	7581463, 11239453, 18475298	Standard		XM_005264946	NA	Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000287647.3:c.2232G>A	3.37:g.10107141G>A		NA	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	37	CCDS2595.1																																																																																			FANCD2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250562.2		+	ENST00000287647.3	Silent	SNP	3 : 10107141 - 10107141 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	689	120
HOXB7	3217	broad.mit.edu	37	17	46685370	46685370	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46685370G>A	ENST00000239165.7	-	2	586	c.488C>T	c.(487-489)aCg>aTg	p.T163M	HOXB7_ENST00000567101.2_5'UTR	NM_004502.3	NP_004493.3	P09629	HXB7_HUMAN	homeobox B7	163						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						CCGCCGCCGCGTCAGGTAGCG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	97	97			NA	NA	17		NA											NA				46685370		2203	4300	6503	SO:0001583	missense				CCDS11532.1	17q21.32	2013-05-22	2005-12-22				3217	3217		Homeoboxes / ANTP class : HOXL subclass	5118	protein-coding gene	gene with protein product		142962	homeo box B7	HOX2, HOX2C	NA	1973146, 1358459	Standard		NM_004502	NA	Approved		uc002inv.3	P09629	OTTHUMG00000170231	ENST00000239165.7:c.488C>T	17.37:g.46685370G>A	ENSP00000239165:p.Thr163Met	NA	A8K3N8|Q15957|Q53FN3|Q96BQ6	37	CCDS11532.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837247	0.71373	.	.	ENSG00000120087	ENST00000239165	D	0.96265	-3.96	4.58	4.58	0.56647	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.065525	0.64402	D	0.000017	D	0.97914	0.9314	H	0.94503	3.545	0.80722	D	1	D	0.58268	0.982	P	0.50659	0.647	D	0.99494	1.0951	10	0.87932	D	0	.	17.1969	0.86895	0.0:0.0:1.0:0.0	.	163	P09629	HXB7_HUMAN	M	163	ENSP00000239165:T163M	ENSP00000239165:T163M	T	-	2	0	HOXB7	44040369	1.000000	0.71417	0.939000	0.37840	0.969000	0.65631	7.795000	0.85887	2.357000	0.79964	0.563000	0.77884	ACG	HOXB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358097.3		-	ENST00000239165.7	Missense_Mutation	SNP	17 : 46685370 - 46685370 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	859	70
RPH3AL	9501	broad.mit.edu	37	17	69436	69436	+	Silent	SNP	G	G	A	rs138331851	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:69436G>A	ENST00000323434.8	-	7	1215	c.618C>T	c.(616-618)ggC>ggT	p.G206G	RPH3AL_ENST00000536489.2_Silent_p.G206G|RPH3AL_ENST00000331302.7_Silent_p.G235G|RPH3AL_ENST00000576001.1_5'UTR	NM_001190412.1	NP_001177341.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	235					exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		agggtttgtcgcctttccggt	0.577		NA											G	3	0.0014	NA	0.01	2184	NA	0.9999	,	,	NA	5e-04	NA	NA	NA	0.0013	0.9516	EXOME	NA	NA	3e-04	SNP								NA				0								G	,,,	1,4405		0,1,2202	106	81	90		705,618,618,705	-6.5	0	17	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RPH3AL	NM_001190411.1,NM_001190412.1,NM_001190413.1,NM_006987.3	,,,	0,2,6501	AA,AG,GG	NA	0.0116,0.0227,0.0154	,,,	235/316,206/287,206/287,235/316	69436	2,13004	2203	4300	6503	SO:0001819	synonymous_variant				CCDS10994.1, CCDS54059.1	17p13.3	2014-07-02			ENSG00000181031	ENSG00000181031	9501	9501		Synaptotagmins	10296	protein-coding gene	gene with protein product		604881			NA	10395805	Standard	NM_006987	NM_006987	NA	Approved	Noc2	uc021tmx.1	Q9UNE2	OTTHUMG00000090273	ENST00000323434.8:c.618C>T	17.37:g.69436G>A		NA	D3DTG7|Q9BSB3	37	CCDS54059.1																																																																																			RPH3AL-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000436796.1		-	ENST00000323434.8	Silent	SNP	17 : 69436 - 69436 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	421	20
PRKD3	23683	broad.mit.edu	37	2	37520372	37520372	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37520372G>T	ENST00000379066.1	-	3	1093	c.331C>A	c.(331-333)Ctc>Atc	p.L111I	PRKD3_ENST00000234179.2_Missense_Mutation_p.L111I			O94806	KPCD3_HUMAN	protein kinase D3	111					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TGGCGAAAGAGAAGAATTTTG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(80;621 1355 8613 11814 51767)							NA				0													105	99	101			NA	NA	2		NA											NA				37520372		2203	4300	6503	SO:0001583	missense			AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825	23683	23683		Pleckstrin homology (PH) domain containing	9408	protein-coding gene	gene with protein product		607077	protein kinase C, nu	PRKCN	NA	10231560	Standard	NM_005813	NM_005813	NA	Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.331C>A	2.37:g.37520372G>T	ENSP00000368356:p.Leu111Ile	NA	D6W587|Q53TR7|Q8NEL8	37	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804090	0.90623	.	.	ENSG00000115825	ENST00000379066;ENST00000234179;ENST00000443187	T;T;D	0.90261	-0.82;-0.82;-2.64	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000001	D	0.94650	0.8275	M	0.78916	2.43	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.79108	0.99;0.992	D	0.94648	0.7836	10	0.66056	D	0.02	-9.5135	12.6994	0.57022	0.0755:0.0:0.9245:0.0	.	111;111	O94806-2;O94806	.;KPCD3_HUMAN	I	111;111;7	ENSP00000368356:L111I;ENSP00000234179:L111I;ENSP00000401839:L7I	ENSP00000234179:L111I	L	-	1	0	PRKD3	37373876	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.008000	0.88588	2.634000	0.89283	0.655000	0.94253	CTC	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000218570.3		-	ENST00000379066.1	Missense_Mutation	SNP	2 : 37520372 - 37520372 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	407	52
MYO9A	4649	broad.mit.edu	37	15	72191130	72191130	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72191130G>A	ENST00000564571.1	-	25	3873	c.3714C>T	c.(3712-3714)gcC>gcT	p.A1238A	MYO9A_ENST00000356056.5_Silent_p.A1238A|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Silent_p.A1238A|MYO9A_ENST00000566885.1_Silent_p.A858A|MYO9A_ENST00000444904.1_Silent_p.A1219A			B2RTY4	MYO9A_HUMAN	myosin IXA	1238	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCTGGCTTTGGGCTCTCTCCT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	157	159			NA	NA	15		NA											NA				72191130		2199	4297	6496	SO:0001819	synonymous_variant			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933	4649	4649		Myosins / Myosin superfamily : Class IX	7608	protein-coding gene	gene with protein product		604875			NA	10409426	Standard	NM_006901	NM_006901	NA	Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000564571.1:c.3714C>T	15.37:g.72191130G>A		NA	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	37																																																																																				MYO9A-015	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000420905.1		-	ENST00000564571.1	Silent	SNP	15 : 72191130 - 72191130 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	995	183
GPT	2875	broad.mit.edu	37	8	145729820	145729820	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145729820G>T	ENST00000528431.1	+	2	290	c.133G>T	c.(133-135)Gcc>Tcc	p.A45S	GPT_ENST00000394955.2_Missense_Mutation_p.A45S			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	45					gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AGTGCAGCGAGCCTTGGAGCT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	77	81			NA	NA	8		NA											NA				145729820		2201	4297	6498	SO:0001583	missense				CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2875	2875	2.6.1.2		4552	protein-coding gene	gene with protein product		138200			NA		Standard		NM_005309	NA	Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.133G>T	8.37:g.145729820G>T	ENSP00000433586:p.Ala45Ser	NA	B0YJ18|D3DWM7|P78398|Q93076	37	CCDS6430.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672382	0.88348	.	.	ENSG00000167701	ENST00000528431;ENST00000394955	T;T	0.45668	0.89;0.89	5.04	4.1	0.47936	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.55721	0.1938	L	0.48260	1.515	0.80722	D	1	D;D	0.69078	0.997;0.991	D;P	0.87578	0.998;0.839	T	0.56944	-0.7895	10	0.62326	D	0.03	-27.8924	12.9533	0.58413	0.0:0.1643:0.8357:0.0	.	45;45	B4DPT5;P24298	.;ALAT1_HUMAN	S	45	ENSP00000433586:A45S;ENSP00000378408:A45S	ENSP00000378408:A45S	A	+	1	0	GPT	145700628	0.867000	0.29959	0.927000	0.36925	0.861000	0.49209	4.128000	0.57951	2.519000	0.84933	0.561000	0.74099	GCC	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382471.1		+	ENST00000528431.1	Missense_Mutation	SNP	8 : 145729820 - 145729820 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	159	10
EFHB	151651	broad.mit.edu	37	3	19925921	19925921	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:19925921G>A	ENST00000344838.4	-	13	1851	c.1730C>T	c.(1729-1731)gCa>gTa	p.A577V	EFHB_ENST00000295824.9_Missense_Mutation_p.A707V			Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	707	EF-hand 1.				signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TCCTACAATTGCATTGATCTC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	95	96			NA	NA	3		NA											NA				19925921		2203	4300	6503	SO:0001583	missense			AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576	151651	151651		EF-hand domain containing	26330	protein-coding gene	gene with protein product	cilia and flagella associated protein 21				NA	12477932	Standard	NM_144715	NM_144715	NA	Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000344838.4:c.1730C>T	3.37:g.19925921G>A	ENSP00000342263:p.Ala577Val	NA	A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	37		.	.	.	.	.	.	.	.	.	.	G	25.0	4.590323	0.86851	.	.	ENSG00000163576	ENST00000295824;ENST00000344838	T;T	0.34667	1.35;1.4	5.67	5.67	0.87782	.	0.075009	0.51477	D	0.000086	T	0.57562	0.2062	M	0.77103	2.36	0.40306	D	0.978667	P;D	0.59767	0.925;0.986	P;P	0.55455	0.691;0.776	T	0.59064	-0.7524	9	.	.	.	-13.2516	19.7874	0.96444	0.0:0.0:1.0:0.0	.	577;707	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	V	707;577	ENSP00000295824:A707V;ENSP00000342263:A577V	.	A	-	2	0	EFHB	19900925	0.945000	0.32115	0.019000	0.16419	0.093000	0.18481	5.062000	0.64326	2.685000	0.91497	0.650000	0.86243	GCA	EFHB-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000318674.2		-	ENST00000344838.4	Missense_Mutation	SNP	3 : 19925921 - 19925921 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	207	48
IGF1R	3480	broad.mit.edu	37	15	99465579	99465579	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99465579G>A	ENST00000558762.1	+	11	2942	c.2404G>A	c.(2404-2406)Gat>Aat	p.D802N	IGF1R_ENST00000268035.6_Missense_Mutation_p.D802N			P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	802					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GTACCGCATCGATATCCACAG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	108	108			NA	NA	15		NA											NA				99465579		2197	4297	6494	SO:0001583	missense			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443	3480	3480		CD molecules, Fibronectin type III domain containing	5465	protein-coding gene	gene with protein product		147370			NA	1316909	Standard	NM_000875	XM_006720486	NA	Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000558762.1:c.2404G>A	15.37:g.99465579G>A	ENSP00000453007:p.Asp802Asn	NA	B1B5Y2|Q14CV2|Q9UCC0	37		.	.	.	.	.	.	.	.	.	.	G	35	5.438773	0.96168	.	.	ENSG00000140443	ENST00000268035	T	0.76448	-1.02	5.5	5.5	0.81552	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000012	D	0.88672	0.6500	M	0.78456	2.415	0.80722	D	1	D;P	0.89917	1.0;0.48	D;B	0.97110	1.0;0.048	D	0.88542	0.3110	10	0.51188	T	0.08	.	19.4017	0.94632	0.0:0.0:1.0:0.0	.	802;802	C9J5X1;P08069	.;IGF1R_HUMAN	N	802	ENSP00000268035:D802N	ENSP00000268035:D802N	D	+	1	0	IGF1R	97283102	1.000000	0.71417	0.953000	0.39169	0.880000	0.50808	9.848000	0.99507	2.567000	0.86603	0.655000	0.94253	GAT	IGF1R-002	NOVEL	NAGNAG_splice_site|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000415271.1		+	ENST00000558762.1	Missense_Mutation	SNP	15 : 99465579 - 99465579 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	391	75
DMTF1	9988	broad.mit.edu	37	7	86823161	86823161	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86823161G>A	ENST00000394703.5	+	18	2334	c.1771G>A	c.(1771-1773)Gtc>Atc	p.V591I	DMTF1_ENST00000414194.2_Missense_Mutation_p.V325I|DMTF1_ENST00000331242.7_Missense_Mutation_p.V591I|DMTF1_ENST00000413276.2_Missense_Mutation_p.V521I|DMTF1_ENST00000432937.2_Missense_Mutation_p.V503I	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	591	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for transcriptional activation (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					AGAACTGACAGTCGATAGTGA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	136	145			NA	NA	7		NA											NA				86823161		2203	4300	6503	SO:0001583	missense			AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164	9988	9988			14603	protein-coding gene	gene with protein product	cyclin D-binding Myb-like protein	608491			NA	10095122, 24958102	Standard	NM_021145	NR_024549	NA	Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.1771G>A	7.37:g.86823161G>A	ENSP00000378193:p.Val591Ile	NA	B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	37	CCDS5601.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328568	0.60743	.	.	ENSG00000135164	ENST00000331242;ENST00000413276;ENST00000432937;ENST00000394703;ENST00000414194	T;T;T;T;T	0.58358	0.48;0.34;0.5;0.48;0.49	6.03	5.16	0.70880	.	0.144170	0.44902	N	0.000409	T	0.40347	0.1113	L	0.27053	0.805	0.43118	D	0.994835	B	0.16603	0.018	B	0.13407	0.009	T	0.19289	-1.0310	10	0.27785	T	0.31	-0.0123	14.2613	0.66088	0.0706:0.0:0.9294:0.0	.	591	Q9Y222	DMTF1_HUMAN	I	591;521;503;591;325	ENSP00000332171:V591I;ENSP00000402627:V521I;ENSP00000412532:V503I;ENSP00000378193:V591I;ENSP00000415910:V325I	ENSP00000332171:V591I	V	+	1	0	DMTF1	86661097	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	4.060000	0.57477	1.558000	0.49541	0.655000	0.94253	GTC	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334025.5		+	ENST00000394703.5	Missense_Mutation	SNP	7 : 86823161 - 86823161 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	629	114
MVB12B	89853	broad.mit.edu	37	9	129154412	129154412	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129154412G>A	ENST00000361171.3	+	5	558	c.477G>A	c.(475-477)gcG>gcA	p.A159A	MVB12B_ENST00000545391.1_Silent_p.A159A|MVB12B_ENST00000535766.1_Silent_p.A152A|MVB12B_ENST00000436593.3_Silent_p.A144A	NM_033446.2	NP_258257.1			multivesicular body subunit 12B	NA											NA						CGGAAGCTGCGATTTGTGACA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	135	132			NA	NA	9		NA											NA				129154412		2203	4300	6503	SO:0001819	synonymous_variant			AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814	89853	89853			23368	protein-coding gene	gene with protein product			chromosome 9 open reading frame 28, family with sequence similarity 125, member B	C9orf28, FAM125B	NA	18005716, 20654576, 22232651	Standard	XM_088525	NM_033446	NA	Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.477G>A	9.37:g.129154412G>A		NA		37	CCDS35142.1																																																																																			MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054110.1		+	ENST00000361171.3	Silent	SNP	9 : 129154412 - 129154412 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	725	169
GPR64	10149	broad.mit.edu	37	X	19028891	19028891	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:19028891C>T	ENST00000379869.3	-	17	1268	c.1105G>A	c.(1105-1107)Gtc>Atc	p.V369I	GPR64_ENST00000357544.3_Missense_Mutation_p.V339I|GPR64_ENST00000379876.1_Missense_Mutation_p.V345I|GPR64_ENST00000356606.4_Missense_Mutation_p.V355I|GPR64_ENST00000340581.3_Missense_Mutation_p.V339I|GPR64_ENST00000357991.3_Missense_Mutation_p.V366I|GPR64_ENST00000379873.2_Missense_Mutation_p.V369I|GPR64_ENST00000379878.3_Missense_Mutation_p.V353I|GPR64_ENST00000354791.3_Missense_Mutation_p.V353I|GPR64_ENST00000360279.4_Missense_Mutation_p.V347I	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	369					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CTGGTGTTGACGATGTCTATA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	100	111			NA	NA	X		NA											NA				19028891		2203	4300	6503	SO:0001583	missense			X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698	10149	10149		-, GPCR / Class B : Orphans	4516	protein-coding gene	gene with protein product	epididymal protein 6	300572			NA	9739419, 9150425	Standard		NM_005756	NA	Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.1105G>A	X.37:g.19028891C>T	ENSP00000369198:p.Val369Ile	NA	B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	37	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	C	4.987	0.183340	0.09495	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.34859	1.41;1.52;1.52;1.52;1.51;1.56;1.51;1.56;1.56;1.34	5.81	-0.0528	0.13820	.	1.173110	0.06308	N	0.702179	T	0.22704	0.0548	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B	0.20671	0.007;0.012;0.014;0.005;0.005;0.047;0.047;0.047;0.027;0.003;0.008	B;B;B;B;B;B;B;B;B;B;B	0.15484	0.002;0.008;0.013;0.008;0.008;0.013;0.013;0.013;0.013;0.004;0.005	T	0.28038	-1.0056	10	0.48119	T	0.1	.	0.9248	0.01322	0.4206:0.2507:0.1223:0.2064	.	339;331;339;345;353;369;347;355;366;369;353	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	I	369;353;353;345;339;369;347;366;355;339	ENSP00000369202:V369I;ENSP00000369207:V353I;ENSP00000346845:V353I;ENSP00000369205:V345I;ENSP00000350152:V339I;ENSP00000369198:V369I;ENSP00000353421:V347I;ENSP00000350680:V366I;ENSP00000349015:V355I;ENSP00000344972:V339I	ENSP00000344972:V339I	V	-	1	0	GPR64	18938812	0.199000	0.23386	0.001000	0.08648	0.050000	0.14768	-0.188000	0.09642	-0.065000	0.13021	0.600000	0.82982	GTC	GPR64-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055970.2		-	ENST00000379869.3	Missense_Mutation	SNP	X : 19028891 - 19028891 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	328	86
SKIV2L	6499	broad.mit.edu	37	6	31933776	31933776	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31933776C>T	ENST00000375394.2	+	18	2301	c.2188C>T	c.(2188-2190)Cac>Tac	p.H730Y	SKIV2L_ENST00000544581.1_Missense_Mutation_p.H537Y	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	730	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GGCAGACCTGCACCGCATGAT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	17	18			NA	NA	6		NA											NA				31933776		1506	2707	4213	SO:0001583	missense				CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351	6499	6499			10898	protein-coding gene	gene with protein product		600478	superkiller viralicidic activity 2 (S. cerevisiae homolog)-like	SKIV2	NA	7759100, 9799600	Standard		XM_006715168	NA	Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.2188C>T	6.37:g.31933776C>T	ENSP00000364543:p.His730Tyr	NA	O15005|Q12902|Q15476|Q5ST66	37	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910495	0.92107	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.47177	0.97;0.85	5.42	5.42	0.78866	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.36110	0.0955	N	0.17278	0.47	0.80722	D	1	D	0.60575	0.988	P	0.52514	0.701	T	0.37549	-0.9701	10	0.62326	D	0.03	-23.8527	17.9769	0.89130	0.0:1.0:0.0:0.0	.	730	Q15477	SKIV2_HUMAN	Y	730;572;537	ENSP00000364543:H730Y;ENSP00000442645:H537Y	ENSP00000364543:H730Y	H	+	1	0	SKIV2L	32041755	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.427000	0.73378	2.545000	0.85829	0.655000	0.94253	CAC	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076264.3		+	ENST00000375394.2	Missense_Mutation	SNP	6 : 31933776 - 31933776 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	122	26
SOX11	6664	broad.mit.edu	37	2	5833253	5833253	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:5833253G>A	ENST00000322002.3	+	1	455	c.400G>A	c.(400-402)Gcc>Acc	p.A134T		NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	134					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		CAAGCCCAGCGCCAGCCAGAG	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													9	13	11			NA	NA	2		NA											NA				5833253		2158	4256	6414	SO:0001583	missense				CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887	6664	6664		SRY (sex determining region Y)-boxes	11191	protein-coding gene	gene with protein product	SRY-related HMG-box gene 11	600898			NA	8666406, 12637543	Standard	NM_003108	NM_003108	NA	Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.400G>A	2.37:g.5833253G>A	ENSP00000322568:p.Ala134Thr	NA	Q4ZFV8	37	CCDS1654.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169174	0.57584	.	.	ENSG00000176887	ENST00000322002	D	0.97850	-4.57	2.82	2.82	0.32997	.	.	.	.	.	D	0.94159	0.8126	L	0.52011	1.625	0.39897	D	0.973855	B	0.25850	0.136	B	0.11329	0.006	D	0.90695	0.4616	9	0.13108	T	0.6	.	8.7744	0.34753	0.0:0.0:0.7743:0.2257	.	134	P35716	SOX11_HUMAN	T	134	ENSP00000322568:A134T	ENSP00000322568:A134T	A	+	1	0	SOX11	5750704	1.000000	0.71417	0.977000	0.42913	0.962000	0.63368	2.399000	0.44495	1.552000	0.49463	0.478000	0.44815	GCC	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206698.1		+	ENST00000322002.3	Missense_Mutation	SNP	2 : 5833253 - 5833253 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	178	34
TP53BP1	7158	broad.mit.edu	37	15	43708516	43708516	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43708516A>G	ENST00000382039.3	-	21	4691	c.4630T>C	c.(4630-4632)Tcc>Ccc	p.S1544P	TP53BP1_ENST00000450115.2_Missense_Mutation_p.S1594P|TP53BP1_ENST00000263801.3_Missense_Mutation_p.S1589P|TP53BP1_ENST00000382044.4_Missense_Mutation_p.S1594P			Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1589					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGCTCCAAGGACAGGATGACA	0.473		NA						Other conserved DNA damage response genes						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													185	156	166			NA	NA	15		NA											NA				43708516		2201	4298	6499	SO:0001583	missense			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369	7158	7158			11999	protein-coding gene	gene with protein product		605230	tumor protein p53-binding protein, 1		NA	8016121, 9748285	Standard		NM_005657	NA	Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000382039.3:c.4630T>C	15.37:g.43708516A>G	ENSP00000371470:p.Ser1544Pro	NA	Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	37		.	.	.	.	.	.	.	.	.	.	A	23.7	4.442899	0.83993	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.57	5.57	0.84162	Translation protein SH3-like, subgroup (1);Tumour suppressor p53-binding protein-1 Tudor (1);	0.000000	0.85682	D	0.000000	T	0.61451	0.2348	L	0.27053	0.805	0.58432	D	0.999997	D;D;D;D	0.76494	0.996;0.999;0.998;0.998	D;D;D;D	0.87578	0.993;0.998;0.996;0.996	T	0.63712	-0.6575	10	0.51188	T	0.08	-9.0154	16.0315	0.80582	1.0:0.0:0.0:0.0	.	1594;1589;1594;1594	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	P	1589;1594;1544;1594	ENSP00000263801:S1589P;ENSP00000371475:S1594P;ENSP00000371470:S1544P;ENSP00000393497:S1594P	ENSP00000263801:S1589P	S	-	1	0	TP53BP1	41495808	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.745000	0.74860	2.247000	0.74100	0.482000	0.46254	TCC	TP53BP1-004	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000132899.3		-	ENST00000382039.3	Missense_Mutation	SNP	15 : 43708516 - 43708516 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	78
SDCCAG8	10806	broad.mit.edu	37	1	243434319	243434319	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:243434319A>C	ENST00000366541.3	+	3	378	c.260A>C	c.(259-261)aAg>aCg	p.K87T	SDCCAG8_ENST00000355875.4_Missense_Mutation_p.K87T|SDCCAG8_ENST00000343783.6_Intron|SDCCAG8_ENST00000391846.1_Missense_Mutation_p.K87T	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	87					establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		CAAGCAGATAAGGAAAGTGAA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	122	126			NA	NA	1		NA											NA				243434319		2203	4300	6503	SO:0001583	missense			AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282	10806	10806			10671	protein-coding gene	gene with protein product		613524			NA	9610721, 20835237	Standard	NM_006642	NM_006642	NA	Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.260A>C	1.37:g.243434319A>C	ENSP00000355499:p.Lys87Thr	NA	O60527|Q3ZCR6|Q8N5F2|Q9P0F1	37	CCDS31075.1	.	.	.	.	.	.	.	.	.	.	A	16.71	3.199679	0.58126	.	.	ENSG00000054282	ENST00000355875;ENST00000391846;ENST00000366541	T;T	0.48522	0.81;0.84	5.52	3.16	0.36331	.	0.346316	0.33161	N	0.005209	T	0.38054	0.1026	L	0.60455	1.87	0.58432	D	0.999999	B	0.20052	0.041	B	0.19946	0.027	T	0.11108	-1.0601	10	0.15499	T	0.54	-7.9406	6.9153	0.24357	0.7718:0.1498:0.0785:0.0	.	87	Q86SQ7	SDCG8_HUMAN	T	87	ENSP00000348137:K87T;ENSP00000355499:K87T	ENSP00000348137:K87T	K	+	2	0	SDCCAG8	241500942	0.805000	0.28982	0.437000	0.26809	0.822000	0.46500	1.372000	0.34261	0.443000	0.26582	0.533000	0.62120	AAG	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096485.1		+	ENST00000366541.3	Missense_Mutation	SNP	1 : 243434319 - 243434319 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	423	97
UNC13B	10497	broad.mit.edu	37	9	35381663	35381663	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35381663T>C	ENST00000378495.3	+	19	2577	c.2355T>C	c.(2353-2355)atT>atC	p.I785I	UNC13B_ENST00000396787.1_Silent_p.I797I|UNC13B_ENST00000378496.4_Silent_p.I785I	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	785					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CCCAAGAAATTGTGGATGAAT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													205	189	194			NA	NA	9		NA											NA				35381663		2203	4300	6503	SO:0001819	synonymous_variant			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722	10497	10497			12566	protein-coding gene	gene with protein product		605836	unc-13-like (C. elegans)	UNC13	NA	9607201	Standard	NM_006377	NM_006377	NA	Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.2355T>C	9.37:g.35381663T>C		NA	Q5VYM8	37	CCDS6579.1																																																																																			UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052296.1		+	ENST00000378495.3	Silent	SNP	9 : 35381663 - 35381663 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	727	137
KCNA3	3738	broad.mit.edu	37	1	111216054	111216054	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111216054C>T	ENST00000369769.2	-	1	1601	c.1378G>A	c.(1378-1380)Gtg>Atg	p.V460M		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	460						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAGATCCCACAATCTTGCCC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	89	96			NA	NA	1		NA											NA				111216054		2203	4300	6503	SO:0001583	missense			L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272	3738	3738		Potassium channels, Voltage-gated ion channels / Potassium channels	6221	protein-coding gene	gene with protein product		176263			NA	2251283, 16382104	Standard	NM_002232	NM_002232	NA	Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1378G>A	1.37:g.111216054C>T	ENSP00000358784:p.Val460Met	NA	Q5VWN2	37	CCDS828.2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.147156	0.77888	.	.	ENSG00000177272	ENST00000369769	D	0.98567	-5.0	5.91	5.91	0.95273	Ion transport (1);	0.000000	0.64402	U	0.000001	D	0.99269	0.9745	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99346	1.0913	10	0.87932	D	0	.	20.2896	0.98541	0.0:1.0:0.0:0.0	.	460	P22001	KCNA3_HUMAN	M	460	ENSP00000358784:V460M	ENSP00000358784:V460M	V	-	1	0	KCNA3	111017577	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.814000	0.86154	2.794000	0.96219	0.655000	0.94253	GTG	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083391.1		-	ENST00000369769.2	Missense_Mutation	SNP	1 : 111216054 - 111216054 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	307	62
SMCR8	140775	broad.mit.edu	37	17	18219764	18219764	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18219764G>A	ENST00000406438.3	+	1	1141	c.661G>A	c.(661-663)Gac>Aac	p.D221N		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	221										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GAAAGCCAACGACAAAGGCTT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	58	59			NA	NA	17		NA											NA				18219764		2203	4300	6503	SO:0001583	missense			AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994	140775	140775			17921	protein-coding gene	gene with protein product					NA	11997338, 23248642	Standard	NM_144775	NM_144775	NA	Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.661G>A	17.37:g.18219764G>A	ENSP00000385025:p.Asp221Asn	NA	A5PKZ5|Q3ZCN0|Q6PJL3	37	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871235	0.72065	.	.	ENSG00000176994	ENST00000406438	T	0.29142	1.58	6.03	6.03	0.97812	.	0.116838	0.64402	D	0.000013	T	0.33177	0.0854	N	0.17082	0.46	0.40450	D	0.980134	D	0.57571	0.98	P	0.51999	0.687	T	0.02789	-1.1110	10	0.30854	T	0.27	-41.651	20.5568	0.99304	0.0:0.0:1.0:0.0	.	221	Q8TEV9	SMCR8_HUMAN	N	221	ENSP00000385025:D221N	ENSP00000385025:D221N	D	+	1	0	SMCR8	18160489	1.000000	0.71417	0.977000	0.42913	0.989000	0.77384	5.654000	0.67974	2.861000	0.98227	0.655000	0.94253	GAC	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132065.2		+	ENST00000406438.3	Missense_Mutation	SNP	17 : 18219764 - 18219764 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	238	11
ZNF99	7652	broad.mit.edu	37	19	22941527	22941527	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22941527T>G	ENST00000596209.1	-	4	1274	c.1184A>C	c.(1183-1185)aAa>aCa	p.K395T	ZNF99_ENST00000397104.3_Missense_Mutation_p.K304T	NM_001080409.2	NP_001073878.2			zinc finger protein 99	NA										NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTTGTAGGGTTTCTGTCCAGT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	72	70			NA	NA	19		NA											NA				22941527		2034	4221	6255	SO:0001583	missense			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973	7652	7652		Zinc fingers, C2H2-type, -	13175	protein-coding gene	gene with protein product		603981	zinc finger protein 99 (F8281), chromosome 19 open reading frame 9	C19orf9	NA		Standard	XM_065124	NM_001080409	NA	Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1184A>C	19.37:g.22941527T>G	ENSP00000472969:p.Lys395Thr	NA		37	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	12.39	1.924104	0.34002	.	.	ENSG00000213973	ENST00000397104	T	0.24908	1.83	1.28	1.28	0.21552	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40595	0.1123	M	0.76727	2.345	0.32529	N	0.535216	D	0.53462	0.96	P	0.57204	0.815	T	0.53107	-0.8485	9	0.87932	D	0	.	7.4893	0.27452	0.0:0.0:0.0:1.0	.	304	A8MXY4	ZNF99_HUMAN	T	304	ENSP00000380293:K304T	ENSP00000380293:K304T	K	-	2	0	ZNF99	22733367	0.155000	0.22806	0.025000	0.17156	0.165000	0.22458	-0.043000	0.12043	0.566000	0.29273	0.325000	0.21440	AAA	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464591.1		-	ENST00000596209.1	Missense_Mutation	SNP	19 : 22941527 - 22941527 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	386	75
OLFM2	93145	broad.mit.edu	37	19	9965432	9965432	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9965432C>T	ENST00000264833.4	-	6	980	c.795G>A	c.(793-795)ccG>ccA	p.P265P	OLFM2_ENST00000590841.1_Silent_p.P187P	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	265	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TGCCCGCCCACGGCTGGGGCA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	42	42			NA	NA	19		NA											NA				9965432		2203	4300	6503	SO:0001819	synonymous_variant			AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088	93145	93145			17189	protein-coding gene	gene with protein product	noelin 2				NA		Standard		NM_058164	NA	Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.795G>A	19.37:g.9965432C>T		NA	Q6IMJ3|Q96FC2	37	CCDS12221.1																																																																																			OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451119.1		-	ENST00000264833.4	Silent	SNP	19 : 9965432 - 9965432 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	164	36
DOK4	55715	broad.mit.edu	37	16	57507359	57507359	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57507359T>G	ENST00000566936.1	-	7	1325	c.1028A>C	c.(1027-1029)aAc>aCc	p.N343T	DOK4_ENST00000569548.1_Missense_Mutation_p.N304T|DOK4_ENST00000340099.4_Missense_Mutation_p.N304T			Q8TEW6	DOK4_HUMAN	docking protein 4	304							insulin receptor binding			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						GATGAATCTGTTGAGGAGGTC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	97	105			NA	NA	16		NA											NA				57507359		2198	4300	6498	SO:0001583	missense			BC003541	CCDS10783.1	16q13	2013-01-10			ENSG00000125170	ENSG00000125170	NA	55715		Pleckstrin homology (PH) domain containing	19868	protein-coding gene	gene with protein product		608333			NA	10493829	Standard		NM_018110	NA	Approved	FLJ10488	uc002elv.4	Q8TEW6	OTTHUMG00000133460	ENST00000566936.1:c.1028A>C	16.37:g.57507359T>G	ENSP00000455566:p.Asn343Thr	NA	O75209|Q9BTP2|Q9NVV3	37		.	.	.	.	.	.	.	.	.	.	T	14.23	2.473549	0.43942	.	.	ENSG00000125170	ENST00000340099	D	0.91894	-2.93	5.4	5.4	0.78164	.	0.743799	0.13215	N	0.404870	D	0.86826	0.6026	N	0.22421	0.69	0.38814	D	0.95547	B	0.16166	0.016	B	0.13407	0.009	T	0.82659	-0.0348	10	0.48119	T	0.1	-22.6822	13.1758	0.59626	0.0:0.0:0.0:1.0	.	304	Q8TEW6	DOK4_HUMAN	T	304	ENSP00000344277:N304T	ENSP00000344277:N304T	N	-	2	0	DOK4	56064860	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.356000	0.52269	2.048000	0.60808	0.533000	0.62120	AAC	DOK4-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	NA	protein_coding	OTTHUMT00000430459.1		-	ENST00000566936.1	Missense_Mutation	SNP	16 : 57507359 - 57507359 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	250	44
PRDM5	11107	broad.mit.edu	37	4	121774643	121774643	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:121774643C>T	ENST00000264808.3	-	3	470	c.230G>A	c.(229-231)cGg>cAg	p.R77Q	PRDM5_ENST00000515109.1_Missense_Mutation_p.R77Q|PRDM5_ENST00000394435.2_Missense_Mutation_p.R77Q|PRDM5_ENST00000428209.2_Missense_Mutation_p.R77Q	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	77	SET.				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTTGGAGTGCCGTGGGTTGGT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													297	292	293			NA	NA	4		NA											NA				121774643		2203	4300	6503	SO:0001583	missense			AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738	11107	11107		Zinc fingers, C2H2-type	9349	protein-coding gene	gene with protein product		614161			NA		Standard		XM_005262706	NA	Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.230G>A	4.37:g.121774643C>T	ENSP00000264808:p.Arg77Gln	NA	Q0VAJ0|Q6NXQ7	37	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096555	0.94197	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209;ENST00000394435	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	5.72	5.72	0.89469	SET domain (2);	0.000000	0.85682	D	0.000000	T	0.72890	0.3517	N	0.17474	0.49	0.80722	D	1	D;D;P;D	0.76494	0.999;0.999;0.809;0.999	D;D;B;D	0.77557	0.978;0.99;0.252;0.978	T	0.67019	-0.5776	10	0.15499	T	0.54	-4.7371	19.011	0.92872	0.0:1.0:0.0:0.0	.	77;77;77;77	Q0VAI9;Q9NQX1-3;Q9NQX1-2;Q9NQX1	.;.;.;PRDM5_HUMAN	Q	77	ENSP00000264808:R77Q;ENSP00000422309:R77Q;ENSP00000404832:R77Q;ENSP00000377955:R77Q	ENSP00000264808:R77Q	R	-	2	0	PRDM5	121994093	1.000000	0.71417	0.900000	0.35374	0.993000	0.82548	5.315000	0.65810	2.857000	0.98124	0.650000	0.86243	CGG	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256528.2		-	ENST00000264808.3	Missense_Mutation	SNP	4 : 121774643 - 121774643 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1470	309
SIM1	6492	broad.mit.edu	37	6	100897277	100897277	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:100897277C>T	ENST00000369208.3	-	6	1287	c.505G>A	c.(505-507)Gcc>Acc	p.A169T	SIM1_ENST00000262901.4_Missense_Mutation_p.A169T			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	169					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TTACGCTTGGCCAAGACGCAC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	43	45			NA	NA	6		NA											NA				100897277		2203	4300	6503	SO:0001583	missense			U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246	6492	6492		Basic helix-loop-helix proteins	10882	protein-coding gene	gene with protein product		603128	single-minded (Drosophila) homolog 1, single-minded homolog 1 (Drosophila)		NA	9199934, 11448938	Standard	NM_005068	NM_005068	NA	Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.505G>A	6.37:g.100897277C>T	ENSP00000358210:p.Ala169Thr	NA	Q5TDP7	37	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398956	0.83120	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.13307	2.6;2.6	5.54	5.54	0.83059	.	0.287742	0.38058	N	0.001823	T	0.18467	0.0443	L	0.45422	1.42	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.03278	-1.1053	10	0.10636	T	0.68	.	19.4675	0.94948	0.0:1.0:0.0:0.0	.	169	P81133	SIM1_HUMAN	T	169	ENSP00000358210:A169T;ENSP00000262901:A169T	ENSP00000262901:A169T	A	-	1	0	SIM1	101003998	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.487000	0.81328	2.602000	0.87976	0.655000	0.94253	GCC	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041628.3		-	ENST00000369208.3	Missense_Mutation	SNP	6 : 100897277 - 100897277 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	177	25
SPAG6	9576	broad.mit.edu	37	10	22699988	22699988	+	Missense_Mutation	SNP	G	G	A	rs143302036		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22699988G>A	ENST00000376624.3	+	10	1485	c.1343G>A	c.(1342-1344)cGa>cAa	p.R448Q	RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376601.1_Missense_Mutation_p.R209Q|SPAG6_ENST00000538630.1_Missense_Mutation_p.R423Q|SPAG6_ENST00000376603.2_Missense_Mutation_p.R524Q|SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000313311.6_Intron	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	448					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						AAAGCTCGACGACTTTTTGTA	0.368		NA											G	1	5e-04	0.002	NA	2184	NA	0.9999	,	,	NA	2e-04	NA	NA	NA	5e-04	0.9181	LOWCOV,EXOME	NA	NA	0.002	SNP								NA				0								G	GLN/ARG,	0,4406		0,0,2203	74	73	73		1343,	3.9	0	10	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	yes	missense,intron	SPAG6	NM_012443.2,NM_172242.1	43,	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	possibly-damaging,	448/510,	22699988	1,13005	2203	4300	6503	SO:0001583	missense			AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327	9576	9576		Armadillo repeat containing	11215	protein-coding gene	gene with protein product	axoneme central apparatus protein	605730			NA	10493827	Standard		NM_012443	NA	Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.1343G>A	10.37:g.22699988G>A	ENSP00000365811:p.Arg448Gln	NA	A8K1I8|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	37	CCDS7139.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.38	3.106882	0.56291	0.0	1.16E-4	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000376601;ENST00000538630	T;T;T;T	0.63913	-0.07;-0.07;0.75;-0.07	5.97	3.9	0.45041	Armadillo-like helical (1);Armadillo-type fold (1);	0.105878	0.64402	N	0.000004	T	0.61274	0.2334	M	0.77616	2.38	0.36197	D	0.850442	P;P;P	0.51653	0.947;0.945;0.947	B;P;B	0.46758	0.277;0.526;0.206	T	0.67639	-0.5619	10	0.05351	T	0.99	-11.9705	10.7739	0.46338	0.173:0.0:0.827:0.0	.	423;524;448	B4DXZ4;O75602-3;O75602	.;.;SPAG6_HUMAN	Q	448;524;209;423	ENSP00000365811:R448Q;ENSP00000365788:R524Q;ENSP00000365786:R209Q;ENSP00000441325:R423Q	ENSP00000365786:R209Q	R	+	2	0	SPAG6	22739994	1.000000	0.71417	0.043000	0.18650	0.637000	0.38172	6.594000	0.74104	0.674000	0.31244	0.591000	0.81541	CGA	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047187.1		+	ENST00000376624.3	Missense_Mutation	SNP	10 : 22699988 - 22699988 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	318	57
AP2M1	1173	broad.mit.edu	37	3	183899752	183899752	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183899752C>T	ENST00000382456.3	+	8	1188	c.874C>T	c.(874-876)Cga>Tga	p.R292*	AP2M1_ENST00000411763.2_Nonsense_Mutation_p.R319*|AP2M1_ENST00000292807.5_Nonsense_Mutation_p.R294*|AP2M1_ENST00000439647.1_Nonsense_Mutation_p.R292*|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000461733.1_3'UTR	NM_001025205.1	NP_001020376.1	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	294	MHD.				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCGCTAGTGCGAGAAGTGGG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	59	59			NA	NA	3		NA											NA				183899752		2053	4194	6247	SO:0001587	stop_gained			U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203	1173	1173			564	protein-coding gene	gene with protein product	clathrin-associated/assembly/adaptor protein, medium 1, plasma membrane adaptor AP-2 50kDA protein, clathrin coat adaptor protein AP50, clathrin adaptor complex AP2, mu subunit, HA2 50 kDA subunit, clathrin assembly protein complex 2 medium chain, AP-2 mu 2 chain	601024		CLAPM1	NA	8595912	Standard	NM_004068	NM_004068	NA	Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000382456.3:c.874C>T	3.37:g.183899752C>T	ENSP00000371894:p.Arg292*	NA	A6NE12|D3DNT1|P20172|P53679	37	CCDS43178.1	.	.	.	.	.	.	.	.	.	.	C	37	6.409621	0.97542	.	.	ENSG00000161203	ENST00000382456;ENST00000411763;ENST00000292807;ENST00000540821;ENST00000539646;ENST00000439647;ENST00000432591	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	.	.	.	X	292;319;294;234;279;292;223	.	ENSP00000292807:R294X	R	+	1	2	AP2M1	185382446	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.259000	0.43259	2.793000	0.96121	0.655000	0.94253	CGA	AP2M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346011.1		+	ENST00000382456.3	Nonsense_Mutation	SNP	3 : 183899752 - 183899752 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	210	46
FRYL	285527	broad.mit.edu	37	4	48501642	48501642	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48501642G>A	ENST00000503238.1	-	61	8838	c.8839C>T	c.(8839-8841)Ctg>Ttg	p.L2947L	FRYL_ENST00000537810.1_Silent_p.L2947L|FRYL_ENST00000264319.7_Silent_p.L337L|FRYL_ENST00000358350.4_Silent_p.L2947L|FRYL_ENST00000507873.2_Silent_p.L337L			O94915	FRYL_HUMAN	FRY-like	2947					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATATGTAACAGTGTCTGTACA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	117	119			NA	NA	4		NA											NA				48501642		1868	4112	5980	SO:0001819	synonymous_variant			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539	285527	285527			29127	protein-coding gene	gene with protein product			KIAA0826, furry homolog-like (Drosophila)	KIAA0826	NA	10048485	Standard		NM_015030	NA	Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.8839C>T	4.37:g.48501642G>A		NA	O95640|Q8WTZ5|Q9NT40	37	CCDS43227.1																																																																																			FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369265.2		-	ENST00000503238.1	Silent	SNP	4 : 48501642 - 48501642 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	515	113
MAPKBP1	23005	broad.mit.edu	37	15	42117590	42117590	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42117590C>T	ENST00000457542.2	+	31	4769	c.4483C>T	c.(4483-4485)Ctg>Ttg	p.L1495L	MAPKBP1_ENST00000514566.1_Silent_p.L1218L|RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000456763.2_Silent_p.L1501L|MAPKBP1_ENST00000221214.6_Silent_p.L1378L|MAPKBP1_ENST00000260357.7_Silent_p.L1334L	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1501										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		ATACTCAGAACTGTTGCTTCG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	37	37			NA	NA	15		NA											NA				42117590		2203	4300	6503	SO:0001819	synonymous_variant			AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802	23005	23005		WD repeat domain containing	29536	protein-coding gene	gene with protein product			mitogen activated protein kinase binding protein 1		NA	9628581, 10471813	Standard	NM_014994	NM_014994	NA	Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000457542.2:c.4483C>T	15.37:g.42117590C>T		NA	A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	37	CCDS32201.1																																																																																			MAPKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359744.1		+	ENST00000457542.2	Silent	SNP	15 : 42117590 - 42117590 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	261	41
RAP1GAP	5909	broad.mit.edu	37	1	21936611	21936611	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21936611A>G	ENST00000542643.2	-	15	1302		c.e15+1		RAP1GAP_ENST00000290101.4_Splice_Site|RAP1GAP_ENST00000374765.4_Splice_Site|RAP1GAP_ENST00000374763.2_Splice_Site|RAP1GAP_ENST00000374761.2_Splice_Site	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	NA					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		AAGAGCGCCCACCTTGTAGAG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	27	27			NA	NA	1		NA											NA				21936611		2203	4300	6503	SO:0001630	splice_region_variant			BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864	5909	5909			9858	protein-coding gene	gene with protein product		600278	RAP1, GTPase activating protein 1	RAP1GA1	NA	1904317	Standard	NM_002885	NM_001145657	NA	Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000542643.2:c.999+1T>C	1.37:g.21936611A>G		NA	O75062|Q5T3S9|Q5T3T4|Q9UQ51	37	CCDS53276.1	.	.	.	.	.	.	.	.	.	.	A	17.41	3.381459	0.61845	.	.	ENSG00000076864	ENST00000290101;ENST00000374761;ENST00000542643;ENST00000374765;ENST00000374763;ENST00000374758	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0701	0.64854	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RAP1GAP	21809198	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	7.473000	0.81007	2.279000	0.76181	0.459000	0.35465	.	RAP1GAP-014	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000467225.1	Intron	-	ENST00000542643.2	Splice_Site	SNP	1 : 21936611 - 21936611 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	166	32
GPR148	344561	broad.mit.edu	37	2	131487621	131487621	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131487621G>A	ENST00000309926.4	+	1	979	c.897G>A	c.(895-897)tgG>tgA	p.W299*		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	299						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CTCACACATGGCTCCTGGCAG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	117	129			NA	NA	2		NA											NA				131487621		2203	4300	6503	SO:0001587	stop_gained			AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302	344561	344561		GPCR / Class A : Orphans	23623	protein-coding gene	gene with protein product					NA	12679517	Standard	XM_293092	NM_207364	NA	Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.897G>A	2.37:g.131487621G>A	ENSP00000308908:p.Trp299*	NA	Q2M369|Q86SP7|Q86U87	37	CCDS2163.1	.	.	.	.	.	.	.	.	.	.	.	21.0	4.082396	0.76528	.	.	ENSG00000173302	ENST00000309926	.	.	.	3.17	3.17	0.36434	.	0.000000	0.56097	U	0.000029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-4.9475	12.1529	0.54059	0.0:0.0:1.0:0.0	.	.	.	.	X	299	.	ENSP00000308908:W299X	W	+	3	0	GPR148	131204091	1.000000	0.71417	0.890000	0.34922	0.526000	0.34562	4.537000	0.60643	1.506000	0.48736	0.462000	0.41574	TGG	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254552.3		+	ENST00000309926.4	Nonsense_Mutation	SNP	2 : 131487621 - 131487621 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	499	45
SPNS1	83985	broad.mit.edu	37	16	28995175	28995175	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28995175G>A	ENST00000311008.11	+	11	1766	c.1389G>A	c.(1387-1389)tcG>tcA	p.S463S	RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000323081.8_Silent_p.S390S|SPNS1_ENST00000565975.1_Silent_p.S508S|SPNS1_ENST00000334536.8_Silent_p.S411S|SPNS1_ENST00000352260.7_Silent_p.S389S	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	463					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						TGCAGTTCTCGCTCATGCTCT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	63	62			NA	NA	16		NA											NA				28995175		2197	4300	6497	SO:0001819	synonymous_variant			BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682	83985	83985			30621	protein-coding gene	gene with protein product		612583			NA	11340170, 12815463	Standard	NM_032038	NM_032038	NA	Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.1389G>A	16.37:g.28995175G>A		NA	B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	37	CCDS10646.1																																																																																			SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254690.2		+	ENST00000311008.11	Silent	SNP	16 : 28995175 - 28995175 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	778	133
ARCN1	372	broad.mit.edu	37	11	118453977	118453977	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118453977C>T	ENST00000359415.4	+	4	639	c.474C>T	c.(472-474)gtC>gtT	p.V158V	ARCN1_ENST00000392859.3_Silent_p.V29V|ARCN1_ENST00000264028.4_Silent_p.V117V|ARCN1_ENST00000534182.2_Intron			P48444	COPD_HUMAN	archain 1	117					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		ATGAAATTGTCGCACTGGGAT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	0,4400		0,0,2200	147	141	143		87,351	-11.6	0.2	11		143	2,8588	2.2+/-6.3	0,2,4293	no	coding-synonymous,coding-synonymous	ARCN1	NM_001142281.1,NM_001655.4	,	0,2,6493	TT,TC,CC	NA	0.0233,0.0,0.0154	,	29/424,117/512	118453977	2,12988	2200	4295	6495	SO:0001819	synonymous_variant			X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139	372	372			649	protein-coding gene	gene with protein product		600820	coatomer protein complex, subunit delta	COPD	NA	7782067, 8854871	Standard		NM_001655	NA	Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000359415.4:c.474C>T	11.37:g.118453977C>T		NA	Q52M80	37																																																																																				ARCN1-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000389275.1		+	ENST00000359415.4	Silent	SNP	11 : 118453977 - 118453977 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	407	71
GABBR2	9568	broad.mit.edu	37	9	101125090	101125090	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101125090G>A	ENST00000259455.2	-	13	2259	c.1800C>T	c.(1798-1800)atC>atT	p.I600I		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	600					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TGCCCCCCACGATCACAAGCA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	71	77			NA	NA	9		NA											NA				101125090		2203	4300	6503	SO:0001819	synonymous_variant			AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928	9568	9568		GABA receptors, GPCR / Class C : GABA(B) receptors	4507	protein-coding gene	gene with protein product		607340	G protein-coupled receptor 51	GPR51	NA	10087195	Standard		NM_005458	NA	Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.1800C>T	9.37:g.101125090G>A		NA	O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	37	CCDS6736.1																																																																																			GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053373.1		-	ENST00000259455.2	Silent	SNP	9 : 101125090 - 101125090 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	225	11
TBP	6908	broad.mit.edu	37	6	170881346	170881346	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170881346C>T	ENST00000392092.2	+	8	1292	c.1013C>T	c.(1012-1014)aCg>aTg	p.T338M	TBP_ENST00000540980.1_Missense_Mutation_p.T318M|TBP_ENST00000230354.6_Missense_Mutation_p.T338M	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	338					cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		TTCAGGAAGACGACGTAATGG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	111	114			NA	NA	6		NA											NA				170881346		2203	4300	6503	SO:0001583	missense			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592	6908	6908		General transcription factors	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17	NA	2194289, 11448935	Standard	NM_003194	NM_003194	NA	Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.1013C>T	6.37:g.170881346C>T	ENSP00000375942:p.Thr338Met	NA	Q16845|Q6IBM6|Q9UC02	37	CCDS5315.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.235125	0.58886	.	.	ENSG00000112592	ENST00000392092;ENST00000540980;ENST00000230354;ENST00000392091	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.67088	0.2856	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.67197	-0.5731	9	0.54805	T	0.06	-13.7474	20.3932	0.98965	0.0:1.0:0.0:0.0	.	338	P20226	TBP_HUMAN	M	338;318;338;315	.	ENSP00000230354:T338M	T	+	2	0	TBP	170723271	1.000000	0.71417	0.968000	0.41197	0.397000	0.30659	7.224000	0.78042	2.824000	0.97209	0.655000	0.94253	ACG	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043271.2		+	ENST00000392092.2	Missense_Mutation	SNP	6 : 170881346 - 170881346 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	440	69
FAM160A2	84067	broad.mit.edu	37	11	6244424	6244424	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6244424T>C	ENST00000265978.4	-	4	1180	c.822A>G	c.(820-822)cgA>cgG	p.R274R	FAM160A2_ENST00000449352.2_Silent_p.R274R|FAM160A2_ENST00000524416.1_Silent_p.R274R	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	274					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTCAATCTTTCGAGGCAGTG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	124	123			NA	NA	11		NA											NA				6244424		2201	4296	6497	SO:0001819	synonymous_variant				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009	84067	84067			25378	protein-coding gene	gene with protein product			chromosome 11 open reading frame 56	C11orf56	NA	11230166, 11214970	Standard	NM_032127	NM_001098794	NA	Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000265978.4:c.822A>G	11.37:g.6244424T>C		NA	Q9C0A4|Q9H0N3|Q9H624	37	CCDS7760.1																																																																																			FAM160A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257229.2		-	ENST00000265978.4	Silent	SNP	11 : 6244424 - 6244424 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1023	234
KLHL1	57626	broad.mit.edu	37	13	70293595	70293595	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:70293595C>T	ENST00000377844.4	-	9	2680	c.1921G>A	c.(1921-1923)Gga>Aga	p.G641R	KLHL1_ENST00000545028.1_Missense_Mutation_p.G448R	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	641					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GTGGCCACTCCGACACCCCCT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ARG/GLY	0,4406		0,0,2203	130	114	119		1921	5.8	1	13		119	1,8599	1.2+/-3.3	0,1,4299	no	missense	KLHL1	NM_020866.2	125	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	641/749	70293595	1,13005	2203	4300	6503	SO:0001583	missense			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361	57626	57626		Kelch-like, BTB/POZ domain containing	6352	protein-coding gene	gene with protein product	Kelch-like protein 1, Mayven-related protein 2	605332	kelch (Drosophila)-like 1, kelch-like 1 (Drosophila)		NA	10888605	Standard	NM_020866	NM_020866	NA	Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1921G>A	13.37:g.70293595C>T	ENSP00000367075:p.Gly641Arg	NA	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	37	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	C	32	5.150594	0.94645	0.0	1.16E-4	ENSG00000150361	ENST00000377844;ENST00000545028	D;D	0.82711	-1.64;-1.64	5.82	5.82	0.92795	Galactose oxidase, beta-propeller (1);	0.000000	0.64402	D	0.000018	D	0.91192	0.7225	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91300	0.5066	10	0.87932	D	0	.	20.088	0.97803	0.0:1.0:0.0:0.0	.	641;641	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	R	641;448	ENSP00000367075:G641R;ENSP00000439602:G448R	ENSP00000367075:G641R	G	-	1	0	KLHL1	69191596	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.818000	0.86416	2.739000	0.93911	0.655000	0.94253	GGA	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045231.3		-	ENST00000377844.4	Missense_Mutation	SNP	13 : 70293595 - 70293595 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	430	28
TTN	7273	broad.mit.edu	37	2	179454840	179454840	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179454840C>A	ENST00000589042.1	-	304	61836	c.61612G>T	c.(61612-61614)Gaa>Taa	p.E20538*	TTN_ENST00000342992.6_Nonsense_Mutation_p.E17970*|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.E18897*|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E11665*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E11598*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E11473*|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18897	Fibronectin type-III 49.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTAACAGCTTCTTTAATTTGT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	138	139			NA	NA	2		NA											NA				179454840		1924	4119	6043	SO:0001587	stop_gained			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.61612G>T	2.37:g.179454840C>A	ENSP00000467141:p.Glu20538*	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	61	54.036070	0.99988	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.5172	0.39113	0.1431:0.7861:0.0:0.0708	.	.	.	.	X	17970;11473;11665;11598;11471	.	ENSP00000340554:E11665X	E	-	1	0	TTN	179163086	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.784000	0.62411	2.844000	0.97970	0.650000	0.86243	GAA	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Nonsense_Mutation	SNP	2 : 179454840 - 179454840 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	538	169
NSUN5	55695	broad.mit.edu	37	7	72721672	72721672	+	Missense_Mutation	SNP	G	G	A	rs137916678	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72721672G>A	ENST00000252594.6	-	3	314	c.299C>T	c.(298-300)gCg>gTg	p.A100V	NSUN5_ENST00000310326.8_Missense_Mutation_p.A100V|NSUN5_ENST00000438747.2_Missense_Mutation_p.A100V|NSUN5_ENST00000428206.1_Intron			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	100				A -> P (in Ref. 1; AAL16067).			methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				CTTGAGCCTCGCCTGGTGCCG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA,,VAL/ALA,VAL/ALA	7,4399	12.9+/-30.5	0,7,2196	44	39	41		299,,299,299	4.2	1	7	dbSNP_134	41	1,8599	1.2+/-3.3	0,1,4299	yes	missense,intron,missense,missense	NSUN5	NM_001168347.1,NM_001168348.1,NM_018044.3,NM_148956.2	64,,64,64	0,8,6495	AA,AG,GG	NA	0.0116,0.1589,0.0615	possibly-damaging,,possibly-damaging,possibly-damaging	100/471,,100/430,100/467	72721672	8,12998	2203	4300	6503	SO:0001583	missense			AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305	55695	55695		NOP2/Sun domain containing	16385	protein-coding gene	gene with protein product	NOP2/Sun domain family, member 5A	615732	Williams Beuren syndrome chromosome region 20A, NOL1/NOP2/Sun domain family, member 5	WBSCR20, WBSCR20A	NA	11978965, 12073013	Standard	NM_148956	NM_148956	NA	Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.299C>T	7.37:g.72721672G>A	ENSP00000252594:p.Ala100Val	NA	Q6ZUI8|Q96HT9|Q9NW70	37	CCDS5547.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400031	0.83120	0.001589	1.16E-4	ENSG00000130305	ENST00000252594;ENST00000438747;ENST00000310326	T;T;T	0.15256	2.44;2.63;2.63	4.18	4.18	0.49190	.	0.055915	0.64402	D	0.000001	T	0.27629	0.0679	M	0.66939	2.045	0.49798	D	0.999825	P;P;P	0.52463	0.953;0.945;0.949	B;B;P	0.48400	0.372;0.269;0.576	T	0.05683	-1.0870	9	.	.	.	.	15.7336	0.77825	0.0:0.0:1.0:0.0	.	100;100;100	B4DP79;Q96P11;Q96P11-2	.;NSUN5_HUMAN;.	V	100	ENSP00000252594:A100V;ENSP00000388464:A100V;ENSP00000309126:A100V	.	A	-	2	0	NSUN5	72359608	1.000000	0.71417	0.995000	0.50966	0.895000	0.52256	8.882000	0.92420	2.165000	0.68154	0.485000	0.47835	GCG	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252113.1		-	ENST00000252594.6	Missense_Mutation	SNP	7 : 72721672 - 72721672 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	156	37
ACACA	31	broad.mit.edu	37	17	35454098	35454098	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35454098T>C	ENST00000353139.5	-	54	7205	c.6724A>G	c.(6724-6726)Atc>Gtc	p.I2242V	ACACA_ENST00000361253.5_Missense_Mutation_p.I331V|ACACA_ENST00000394406.2_Missense_Mutation_p.I2205V|ACACA_ENST00000335166.5_Missense_Mutation_p.I2127V|ACACA_ENST00000360679.3_Missense_Mutation_p.I2147V	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2205					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CAATCCAGGATATCCTACATG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)							NA				0													62	57	59			NA	NA	17		NA											NA				35454098		2203	4300	6503	SO:0001583	missense			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	31	31	6.4.1.2		84	protein-coding gene	gene with protein product	acetyl-CoA carboxylase 1	200350	acetyl-Coenzyme A carboxylase alpha	ACAC, ACC	NA		Standard	NM_198836	NM_198837	NA	Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000353139.5:c.6724A>G	17.37:g.35454098T>C	ENSP00000344789:p.Ile2242Val	NA	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	37	CCDS42302.1	.	.	.	.	.	.	.	.	.	.	T	4.071	0.011032	0.07912	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75	5.65	5.65	0.86999	Carboxyl transferase (1);	0.048645	0.85682	D	0.000000	T	0.14527	0.0351	N	0.25789	0.76	0.80722	D	1	B;B;B;B;B	0.09022	0.0;0.002;0.0;0.0;0.0	B;B;B;B;B	0.16289	0.002;0.015;0.003;0.001;0.0	T	0.08027	-1.0742	10	0.02654	T	1	-15.445	9.0636	0.36449	0.0:0.1424:0.0:0.8576	.	243;904;2242;2205;2147	B4DIG6;F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;.;ACACA_HUMAN;.	V	2242;2147;2205;2229;2127;904;331	ENSP00000344789:I2242V;ENSP00000353898:I2147V;ENSP00000377928:I2205V;ENSP00000335323:I2127V;ENSP00000354565:I331V	ENSP00000335323:I2127V	I	-	1	0	ACACA	32528211	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	3.479000	0.53165	2.152000	0.67230	0.528000	0.53228	ATC	ACACA-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256689.1		-	ENST00000353139.5	Missense_Mutation	SNP	17 : 35454098 - 35454098 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	216	37
ITIH6	347365	broad.mit.edu	37	X	54783453	54783453	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54783453G>A	ENST00000218436.6	-	8	3083	c.3054C>T	c.(3052-3054)ttC>ttT	p.F1018F		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1018					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity				NA						AGGACTCCACGAACTTGGATT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	67	72			NA	NA	X		NA											NA				54783453		2203	4300	6503	SO:0001819	synonymous_variant			AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313	347365	347365			28907	protein-coding gene	gene with protein product			inter-alpha (globulin) inhibitor H5-like	ITIH5L	NA	12975309	Standard	NM_198510	NM_198510	NA	Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.3054C>T	X.37:g.54783453G>A		NA	A6NN03	37	CCDS14361.1																																																																																			ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056814.2		-	ENST00000218436.6	Silent	SNP	X : 54783453 - 54783453 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	108	31
ADAMTSL1	92949	broad.mit.edu	37	9	18892409	18892409	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:18892409G>A	ENST00000380548.4	+	26	5005	c.4666G>A	c.(4666-4668)Gcc>Acc	p.A1556T	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.A257T	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1556	TSP type-1 8.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CTCCTGGTCTGCCTGTACCCG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	31	30			NA	NA	9		NA											NA				18892409		1922	4119	6041	SO:0001583	missense			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031	92949	92949		Immunoglobulin superfamily / I-set domain containing	14632	protein-coding gene	gene with protein product	punctin	609198	chromosome 9 open reading frame 94	C9orf94	NA	9628581, 11805097	Standard		NM_001040272	NA	Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.4666G>A	9.37:g.18892409G>A	ENSP00000369921:p.Ala1556Thr	NA	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	37	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834813	0.32421	.	.	ENSG00000178031	ENST00000380548;ENST00000380545;ENST00000316239	T;T	0.55052	0.54;0.54	5.45	4.48	0.54585	.	0.467261	0.21883	N	0.067719	T	0.32376	0.0827	N	0.13235	0.315	0.27451	N	0.953432	B;B	0.29212	0.137;0.237	B;B	0.30943	0.058;0.122	T	0.12091	-1.0561	10	0.33141	T	0.24	.	7.4575	0.27274	0.0:0.1348:0.4922:0.373	.	257;1556	Q8N6G6-6;Q8N6G6	.;ATL1_HUMAN	T	1556;257;260	ENSP00000369921:A1556T;ENSP00000369918:A257T	ENSP00000325584:A260T	A	+	1	0	ADAMTSL1	18882409	0.019000	0.18553	0.967000	0.41034	0.998000	0.95712	1.680000	0.37607	2.560000	0.86352	0.555000	0.69702	GCC	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401206.1		+	ENST00000380548.4	Missense_Mutation	SNP	9 : 18892409 - 18892409 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	121	17
EPN1	29924	broad.mit.edu	37	19	56204384	56204384	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56204384G>A	ENST00000411543.2	+	9	2050	c.1503G>A	c.(1501-1503)ccG>ccA	p.P501P	EPN1_ENST00000085079.7_Silent_p.P389P|EPN1_ENST00000270460.6_Silent_p.P415P	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	415	Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CGGCACTGCCGACCTCCGGGA	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	72	68			NA	NA	19		NA											NA				56204384		2090	4217	6307	SO:0001819	synonymous_variant			AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245	29924	29924			21604	protein-coding gene	gene with protein product		607262			NA	9723620, 10557078	Standard	NM_013333	NM_001130072	NA	Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000411543.2:c.1503G>A	19.37:g.56204384G>A		NA	Q86ST3|Q9HA18	37	CCDS46198.1																																																																																			EPN1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453612.1		+	ENST00000411543.2	Silent	SNP	19 : 56204384 - 56204384 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	782	140
MEDAG	84935	broad.mit.edu	37	13	31491584	31491584	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:31491584A>G	ENST00000380482.4	+	2	648	c.323A>G	c.(322-324)gAa>gGa	p.E108G	TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000586464.1_RNA	NM_032849.3	NP_116238			mesenteric estrogen-dependent adipogenesis	NA											NA						GACTACAGGGAAACTATATTG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	136	137			NA	NA	13		NA											NA				31491584		2203	4300	6503	SO:0001583	missense			AB055407	CCDS9338.1	13q12.3	2013-10-11	2012-09-26	2012-09-26	ENSG00000102802	ENSG00000102802	84935	84935			25926	protein-coding gene	gene with protein product	mesenteric estrogen-dependent adipose 4, activated in W/Wv mouse stomach 3 homolog		chromosome 13 open reading frame 33	C13orf33	NA	22510272	Standard	NM_032849	NM_032849	NA	Approved	FLJ14834, AWMS3, MEDA-4	uc001uth.4	Q5VYS4	OTTHUMG00000016679	ENST00000380482.4:c.323A>G	13.37:g.31491584A>G	ENSP00000369849:p.Glu108Gly	NA		37	CCDS9338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.0|21.0	4.075538|4.075538	0.76415|0.76415	.|.	.|.	ENSG00000102802|ENSG00000102802	ENST00000380482|ENST00000428944	T|.	0.51325|.	0.71|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.213853|.	0.48286|.	D|.	0.000193|.	T|T	0.53351|0.53351	0.1791|0.1791	L|L	0.29908|0.29908	0.895|0.895	0.38727|0.38727	D|D	0.953585|0.953585	D|.	0.76494|.	0.999|.	D|.	0.78314|.	0.991|.	T|T	0.54846|0.54846	-0.8232|-0.8232	10|5	0.72032|.	D|.	0.01|.	-12.3709|-12.3709	13.2421|13.2421	0.60002|0.60002	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	108|.	Q5VYS4|.	CM033_HUMAN|.	G|E	108|45	ENSP00000369849:E108G|.	ENSP00000369849:E108G|.	E|K	+|+	2|1	0|0	C13orf33|C13orf33	30389584|30389584	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	5.115000|5.115000	0.64655|0.64655	2.113000|2.113000	0.64589|0.64589	0.460000|0.460000	0.39030|0.39030	GAA|AAA	MEDAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044375.1		+	ENST00000380482.4	Missense_Mutation	SNP	13 : 31491584 - 31491584 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	66
GLI1	2735	broad.mit.edu	37	12	57864247	57864247	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57864247C>T	ENST00000228682.2	+	12	1815	c.1724C>T	c.(1723-1725)gCa>gTa	p.A575V	GLI1_ENST00000543426.1_Missense_Mutation_p.A447V|GLI1_ENST00000546141.1_Missense_Mutation_p.A534V	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	575					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GAGAATGGAGCATCCTCCCTG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(157;841 1936 10503 41495 50368)							NA				0													64	60	62			NA	NA	12		NA											NA				57864247		2203	4300	6503	SO:0001583	missense				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087	2735	2735		Zinc fingers, C2H2-type	4317	protein-coding gene	gene with protein product		165220	glioma-associated oncogene homolog 1 (zinc finger protein), glioma-associated oncogene family zinc finger 1	GLI	NA	2850480	Standard	NM_005269	NM_005269	NA	Approved		uc001snx.3	P08151		ENST00000228682.2:c.1724C>T	12.37:g.57864247C>T	ENSP00000228682:p.Ala575Val	NA	Q8TDN9	37	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	C	9.677	1.148306	0.21288	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467	T;T;T;T	0.14266	2.7;2.52;2.61;2.61	3.86	2.03	0.26663	.	0.476605	0.17850	N	0.159887	T	0.10208	0.0250	L	0.42245	1.32	0.32065	N	0.595215	B	0.02656	0.0	B	0.01281	0.0	T	0.07790	-1.0754	10	0.41790	T	0.15	.	4.1612	0.10284	0.0:0.5937:0.1928:0.2135	.	575	P08151	GLI1_HUMAN	V	447;575;534;534	ENSP00000437607:A447V;ENSP00000228682:A575V;ENSP00000441006:A534V;ENSP00000434408:A534V	ENSP00000228682:A575V	A	+	2	0	GLI1	56150514	0.000000	0.05858	0.943000	0.38184	0.953000	0.61014	-0.088000	0.11198	0.596000	0.29794	0.491000	0.48974	GCA	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394197.1		+	ENST00000228682.2	Missense_Mutation	SNP	12 : 57864247 - 57864247 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	537	86
CMTM7	112616	broad.mit.edu	37	3	32483422	32483422	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32483422G>A	ENST00000334983.5	+	2	486	c.250G>A	c.(250-252)Gac>Aac	p.D84N	CMTM7_ENST00000349718.4_Missense_Mutation_p.D84N	NM_138410.2	NP_612419.1	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing 7	84	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(2)	4						CACCATTTGCGACTTGATAAT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													220	185	197			NA	NA	3		NA											NA				32483422		2203	4300	6503	SO:0001583	missense			AF479263	CCDS33730.1, CCDS33731.1	3p22.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000153551	ENSG00000153551	NA	112616			19178	protein-coding gene	gene with protein product		607890	chemokine-like factor super family 7, chemokine-like factor superfamily 7	CKLFSF7	NA		Standard		NM_138410	NA	Approved	FLJ30992	uc003cey.1	Q96FZ5	OTTHUMG00000155869	ENST00000334983.5:c.250G>A	3.37:g.32483422G>A	ENSP00000335605:p.Asp84Asn	NA		37	CCDS33730.1	.	.	.	.	.	.	.	.	.	.	G	5.135	0.210546	0.09757	.	.	ENSG00000153551	ENST00000334983;ENST00000349718;ENST00000465248	T	0.25085	1.82	5.5	3.58	0.41010	Marvel (1);MARVEL-like domain (1);	0.293959	0.35466	N	0.003183	T	0.12433	0.0302	N	0.17674	0.51	0.27806	N	0.942302	B;B	0.21821	0.061;0.011	B;B	0.14578	0.011;0.006	T	0.18681	-1.0329	10	0.23891	T	0.37	.	3.0843	0.06272	0.2612:0.0:0.5303:0.2085	.	84;84	Q5VLK1;Q96FZ5	.;CKLF7_HUMAN	N	84;84;40	ENSP00000335605:D84N	ENSP00000335605:D84N	D	+	1	0	CMTM7	32458426	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.887000	0.48586	0.571000	0.29365	-0.229000	0.12294	GAC	CMTM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342084.1		+	ENST00000334983.5	Missense_Mutation	SNP	3 : 32483422 - 32483422 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	699	28
CADM3	57863	broad.mit.edu	37	1	159163241	159163241	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159163241T>G	ENST00000368125.4	+	4	568	c.411T>G	c.(409-411)ggT>ggG	p.G137G	CADM3_ENST00000368124.4_Silent_p.G171G	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	137	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TCATCACTGGTTATAAATCTT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	110	109			NA	NA	1		NA											NA				159163241		2203	4300	6503	SO:0001819	synonymous_variant			AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706	57863	57863		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	17601	protein-coding gene	gene with protein product	nectin-like 1	609743	immunoglobulin superfamily, member 4B	IGSF4B	NA	11536053	Standard	NM_021189	NM_021189	NA	Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.411T>G	1.37:g.159163241T>G		NA	Q8IZQ9|Q9NVJ5|Q9UJP1	37	CCDS44251.1																																																																																			CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090330.1		+	ENST00000368125.4	Silent	SNP	1 : 159163241 - 159163241 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	561	55
NPAP1	23742	broad.mit.edu	37	15	24922482	24922482	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:24922482G>T	ENST00000329468.2	+	1	1942	c.1468G>T	c.(1468-1470)Gca>Tca	p.A490S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1	NA											NA						AGTCGTAGGAGCAGCGCCTCT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													193	203	199			NA	NA	15		NA											NA				24922482		2203	4300	6503	SO:0001583	missense			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823	23742	23742			1190	protein-coding gene	gene with protein product		610922	chromosome 15 open reading frame 2	C15orf2	NA	10783265, 22694955	Standard	NM_018958	NM_018958	NA	Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1468G>T	15.37:g.24922482G>T	ENSP00000333735:p.Ala490Ser	NA		37	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	9.005	0.981128	0.18812	.	.	ENSG00000185823	ENST00000329468	T	0.06218	3.33	2.07	0.943	0.19531	.	1.499650	0.04447	N	0.371857	T	0.05273	0.0140	N	0.22421	0.69	0.09310	N	1	P	0.47962	0.903	P	0.46885	0.53	T	0.27020	-1.0086	10	0.06365	T	0.9	.	3.0048	0.06025	0.4784:0.0:0.5216:0.0	.	490	Q9NZP6	CO002_HUMAN	S	490	ENSP00000333735:A490S	ENSP00000333735:A490S	A	+	1	0	C15orf2	22473575	0.003000	0.15002	0.002000	0.10522	0.027000	0.11550	0.214000	0.17541	0.285000	0.22329	0.313000	0.20887	GCA	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251253.1		+	ENST00000329468.2	Missense_Mutation	SNP	15 : 24922482 - 24922482 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1473	265
ZNF85	7639	broad.mit.edu	37	19	21131671	21131671	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21131671C>A	ENST00000601023.1	+	2	820	c.174C>A	c.(172-174)ggC>ggA	p.G58G	ZNF85_ENST00000328178.8_Silent_p.G117G|ZNF85_ENST00000597314.1_3'UTR|ZNF85_ENST00000345030.6_Silent_p.G84G			Q03923	ZNF85_HUMAN	zinc finger protein 85	117	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						TAAGAAAAGGCTGTGAAAGTA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	61	61			NA	NA	19		NA											NA				21131671		2203	4299	6502	SO:0001819	synonymous_variant			U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750	7639	7639		Zinc fingers, C2H2-type, -	13160	protein-coding gene	gene with protein product		603899	zinc finger protein 85 (HPF4, HTF1)		NA	2505992	Standard	NM_003429	NM_003429	NA	Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000601023.1:c.174C>A	19.37:g.21131671C>A		NA	B9ZVP4	37																																																																																				ZNF85-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000463433.2		+	ENST00000601023.1	Silent	SNP	19 : 21131671 - 21131671 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	62
F11R	50848	broad.mit.edu	37	1	160970463	160970463	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160970463C>T	ENST00000368026.6	-	4	620	c.346G>A	c.(346-348)Ggc>Agc	p.G116S	F11R_ENST00000289779.3_3'UTR|F11R_ENST00000537746.1_Intron|F11R_ENST00000472573.1_5'UTR	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	116	Ig-like V-type 1.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			TAGCTGTTGCCGCCTTCCTCA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	SER/GLY	0,4406		0,0,2203	212	146	168		346	5.2	0.9	1		168	1,8599	1.2+/-3.3	0,1,4299	no	missense	F11R	NM_016946.4	56	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	116/300	160970463	1,13005	2203	4300	6503	SO:0001583	missense			AF111713	CCDS1213.1	1q21.2-q21.3	2013-01-29	2003-02-07	2003-02-14	ENSG00000158769	ENSG00000158769	50848	50848		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	14685	protein-coding gene	gene with protein product		605721	junctional adhesion molecule 1	JAM1	NA	10395639, 7646439	Standard	NM_016946	NM_016946	NA	Approved	PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321	uc009wtt.3	Q9Y624	OTTHUMG00000028602	ENST00000368026.6:c.346G>A	1.37:g.160970463C>T	ENSP00000357005:p.Gly116Ser	NA		37	CCDS1213.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979286	0.74360	0.0	1.16E-4	ENSG00000158769	ENST00000368026;ENST00000335772;ENST00000289779;ENST00000436182	T;T	0.39592	1.07;1.07	5.18	5.18	0.71444	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.363922	0.28093	N	0.016631	T	0.46756	0.1409	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.65815	0.993;0.972;0.972;0.995	P;B;B;P	0.55112	0.705;0.304;0.304;0.769	T	0.51965	-0.8638	10	0.45353	T	0.12	.	9.7562	0.40504	0.0:0.9054:0.0:0.0946	.	120;116;116;116	B7Z5W1;Q6FIB4;Q9Y624;D3DVF0	.;.;JAM1_HUMAN;.	S	116;116;116;120	ENSP00000357005:G116S;ENSP00000394809:G120S	ENSP00000289779:G116S	G	-	1	0	F11R	159237087	0.989000	0.36119	0.870000	0.34147	0.947000	0.59692	3.702000	0.54800	2.392000	0.81423	0.563000	0.77884	GGC	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071458.3		-	ENST00000368026.6	Missense_Mutation	SNP	1 : 160970463 - 160970463 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	441	72
DUOX1	53905	broad.mit.edu	37	15	45437193	45437193	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45437193G>A	ENST00000321429.4	+	19	2644	c.2237G>A	c.(2236-2238)cGg>cAg	p.R746Q	DUOX1_ENST00000561166.1_Missense_Mutation_p.R392Q|DUOX1_ENST00000389037.3_Missense_Mutation_p.R746Q	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	746					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGGGAGCTGCGGGAGCAGGAG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	98	96			NA	NA	15		NA											NA				45437193		2198	4298	6496	SO:0001583	missense			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857	53905	53905		EF-hand domain containing	3062	protein-coding gene	gene with protein product	NADPH thyroid oxidase 1, flavoprotein NADPH oxidase, nicotinamide adenine dinucleotide phosphate oxidase	606758			NA	10806195	Standard	NM_017434	XM_005254463	NA	Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.2237G>A	15.37:g.45437193G>A	ENSP00000317997:p.Arg746Gln	NA	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	37	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723706	0.30593	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.85484	-1.99;-1.99	4.81	3.9	0.45041	.	0.255145	0.43260	D	0.000594	T	0.76688	0.4022	L	0.48642	1.525	0.35635	D	0.810526	P	0.46656	0.882	B	0.41332	0.354	T	0.75966	-0.3131	10	0.14252	T	0.57	-18.0719	7.5208	0.27626	0.1912:0.0:0.8088:0.0	.	746	Q9NRD9	DUOX1_HUMAN	Q	746	ENSP00000317997:R746Q;ENSP00000373689:R746Q	ENSP00000317997:R746Q	R	+	2	0	DUOX1	43224485	0.961000	0.32948	0.992000	0.48379	0.898000	0.52572	1.737000	0.38197	1.388000	0.46506	-0.140000	0.14226	CGG	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416251.1		+	ENST00000321429.4	Missense_Mutation	SNP	15 : 45437193 - 45437193 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	695	123
ADAMTS12	81792	broad.mit.edu	37	5	33641986	33641986	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33641986T>C	ENST00000504830.1	-	11	1982	c.1647A>G	c.(1645-1647)tcA>tcG	p.S549S	ADAMTS12_ENST00000352040.3_Silent_p.S549S|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	549	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGGACCAGGGTGACCAGCGGC	0.572		NA								HNSCC(64;0.19)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	57	58			NA	NA	5		NA											NA				33641986		2203	4300	6503	SO:0001819	synonymous_variant			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388	81792	81792		ADAM metallopeptidases with thrombospondin type 1 motif	14605	protein-coding gene	gene with protein product		606184	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12		NA	11279086	Standard	NM_030955	NM_030955	NA	Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1647A>G	5.37:g.33641986T>C		NA	A2RRN9|A5D6V6|Q6UWL3	37	CCDS34140.1																																																																																			ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367164.2		-	ENST00000504830.1	Silent	SNP	5 : 33641986 - 33641986 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	345	56
WNT1	7471	broad.mit.edu	37	12	49373312	49373312	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49373312G>A	ENST00000293549.3	+	2	202	c.166G>A	c.(166-168)Gta>Ata	p.V56I		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	56					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		TCTGCAACTGGTACTCGAGCC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	75	76			NA	NA	12		NA											NA				49373312		2203	4300	6503	SO:0001583	missense			X03072	CCDS8776.1	12q13	2013-02-28				ENSG00000125084	7471	7471		Wingless-type MMTV integration sites, Endogenous ligands	12774	protein-coding gene	gene with protein product		164820		INT1	NA	2998762, 3281802	Standard		NM_005430	NA	Approved		uc001rsu.3	P04628	OTTHUMG00000170403	ENST00000293549.3:c.166G>A	12.37:g.49373312G>A	ENSP00000293549:p.Val56Ile	NA	Q5U0N2	37	CCDS8776.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.360417	0.24598	.	.	ENSG00000125084	ENST00000293549	T	0.75938	-0.98	4.84	4.84	0.62591	.	0.660669	0.12351	U	0.476582	T	0.56499	0.1989	N	0.08118	0	0.58432	D	0.999994	B	0.20780	0.048	B	0.19666	0.026	T	0.49615	-0.8921	10	0.10636	T	0.68	.	16.8853	0.86074	0.0:0.0:1.0:0.0	.	56	P04628	WNT1_HUMAN	I	56	ENSP00000293549:V56I	ENSP00000293549:V56I	V	+	1	0	WNT1	47659579	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	7.254000	0.78329	2.501000	0.84356	0.655000	0.94253	GTA	WNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408937.1		+	ENST00000293549.3	Missense_Mutation	SNP	12 : 49373312 - 49373312 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	559	97
RABGEF1	27342	broad.mit.edu	37	7	66270342	66270342	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66270342C>T	ENST00000284957.5	+	8	1113	c.1036C>T	c.(1036-1038)Cga>Tga	p.R346*	RABGEF1_ENST00000437078.2_Nonsense_Mutation_p.R360*|KCTD7_ENST00000380828.2_Nonsense_Mutation_p.R386*|KCTD7_ENST00000451741.2_Nonsense_Mutation_p.R346*|RABGEF1_ENST00000450873.2_Nonsense_Mutation_p.R346*|RABGEF1_ENST00000439720.2_Nonsense_Mutation_p.R359*|KCTD7_ENST00000510829.2_Nonsense_Mutation_p.R346*|RABGEF1_ENST00000484547.2_3'UTR			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	563					endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						CAATCCAAGCCGACTGATGAC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	88	93			NA	NA	7		NA											NA				66270342		2203	4300	6503	SO:0001587	stop_gained			AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710	27342	27342			17676	protein-coding gene	gene with protein product		609700			NA	12505986, 11098082	Standard	NM_014504	NM_014504	NA	Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.1036C>T	7.37:g.66270342C>T	ENSP00000284957:p.Arg346*	NA	Q3HKR2|Q3HKR3|Q53FG0	37	CCDS5535.1	.	.	.	.	.	.	.	.	.	.	C	38	6.971006	0.97971	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000539561;ENST00000284957;ENST00000450873;ENST00000439720;ENST00000437078	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.4757	12.27	0.54700	0.2678:0.7322:0.0:0.0	.	.	.	.	X	430;386;346;346;262;346;346;359;360	.	ENSP00000370207:R430X	R	+	1	2	RABGEF1;KCTD7	65907777	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.726000	0.38085	2.643000	0.89663	0.655000	0.94253	CGA	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251737.3		+	ENST00000284957.5	Nonsense_Mutation	SNP	7 : 66270342 - 66270342 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	494	48
TACR1	6869	broad.mit.edu	37	2	75425709	75425709	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:75425709C>T	ENST00000305249.5	-	1	1117	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	TACR1_ENST00000409848.3_Missense_Mutation_p.A118T	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	NA					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TAGATACTGGCGAAGACAGCG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(64;62 1268 3653 14826 43765)							NA				0													121	112	115			NA	NA	2		NA											NA				75425709		2203	4300	6503	SO:0001583	missense			M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353	6869	6869		GPCR / Class A : Tachykinin receptors	11526	protein-coding gene	gene with protein product		162323		TAC1R	NA	1657150	Standard	NM_001058	NM_001058	NA	Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.352G>A	2.37:g.75425709C>T	ENSP00000303522:p.Ala118Thr	NA	A8K150	37	CCDS1958.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001310	0.74818	.	.	ENSG00000115353	ENST00000305249;ENST00000409848	T;T	0.76060	-0.99;-0.99	5.41	5.41	0.78517	GPCR, rhodopsin-like superfamily (1);	0.049231	0.85682	D	0.000000	T	0.66684	0.2814	L	0.51914	1.62	0.80722	D	1	P	0.47604	0.898	B	0.39660	0.306	T	0.67225	-0.5724	10	0.37606	T	0.19	.	11.5873	0.50925	0.1776:0.8224:0.0:0.0	.	118	P25103	NK1R_HUMAN	T	118	ENSP00000303522:A118T;ENSP00000386448:A118T	ENSP00000303522:A118T	A	-	1	0	TACR1	75279217	1.000000	0.71417	0.985000	0.45067	0.992000	0.81027	4.545000	0.60698	2.798000	0.96311	0.655000	0.94253	GCC	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252239.3		-	ENST00000305249.5	Missense_Mutation	SNP	2 : 75425709 - 75425709 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	509	71
TP53BP2	7159	broad.mit.edu	37	1	223983554	223983554	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223983554C>T	ENST00000391878.2	-	14	3068	c.2300G>A	c.(2299-2301)cGc>cAc	p.R767H	TP53BP2_ENST00000343537.7_Missense_Mutation_p.R896H|TP53BP2_ENST00000391879.2_Missense_Mutation_p.R129H|TP53BP2_ENST00000498843.1_5'UTR	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	890					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TTCAGGCGGGCGCATGCTCAC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	61	59			NA	NA	1		NA											NA				223983554		2203	4300	6503	SO:0001583	missense			U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514	7159	7159		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Ankyrin repeat domain containing	12000	protein-coding gene	gene with protein product		602143	tumor protein p53-binding protein, 2		NA	8668206, 8016121	Standard	NM_001031685, NM_005426	NM_005426	NA	Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000391878.2:c.2300G>A	1.37:g.223983554C>T	ENSP00000375750:p.Arg767His	NA	Q12892|Q86X75|Q96KQ3	37	CCDS1538.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606642	0.66558	.	.	ENSG00000143514	ENST00000391878;ENST00000343537;ENST00000391879	T;T;T	0.50548	0.83;1.0;0.74	5.37	4.46	0.54185	Src homology-3 domain (1);	0.268229	0.43260	N	0.000590	T	0.46308	0.1386	L	0.48362	1.52	0.47584	D	0.999461	P;P	0.50943	0.94;0.94	P;P	0.45639	0.488;0.488	T	0.43956	-0.9359	10	0.44086	T	0.13	.	13.9612	0.64180	0.0:0.9267:0.0:0.0733	.	896;890	B4DG66;Q13625	.;ASPP2_HUMAN	H	767;896;129	ENSP00000375750:R767H;ENSP00000341957:R896H;ENSP00000375751:R129H	ENSP00000341957:R896H	R	-	2	0	TP53BP2	222050177	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	3.469000	0.53093	1.272000	0.44329	0.563000	0.77884	CGC	TP53BP2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090986.3		-	ENST00000391878.2	Missense_Mutation	SNP	1 : 223983554 - 223983554 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	491	100
STRN4	29888	broad.mit.edu	37	19	47223960	47223960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47223960G>A	ENST00000391910.3	-	17	2632	c.2182C>T	c.(2182-2184)Cgc>Tgc	p.R728C	STRN4_ENST00000263280.6_Missense_Mutation_p.R721C|STRN4_ENST00000539396.1_Missense_Mutation_p.R602C			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	721						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	p.R721C(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TGCTTCTTGCGGTGGGCCGTG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											160	112	128			NA	NA	19		NA											NA				47223960		2203	4300	6503	SO:0001583	missense			AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372	29888	29888		WD repeat domain containing	15721	protein-coding gene	gene with protein product		614767			NA	10748158	Standard		XM_006723171	NA	Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000391910.3:c.2182C>T	19.37:g.47223960G>A	ENSP00000375777:p.Arg728Cys	NA	Q8NE53	37	CCDS42581.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082450	0.76528	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396	T;T;T	0.67865	-0.29;-0.24;-0.12	4.45	4.45	0.53987	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	D	0.85120	0.5624	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.95	D	0.88983	0.3409	10	0.87932	D	0	-21.4832	16.0134	0.80420	0.0:0.0:1.0:0.0	.	728;721	F8VYA6;Q9NRL3	.;STRN4_HUMAN	C	728;721;602	ENSP00000375777:R728C;ENSP00000263280:R721C;ENSP00000440901:R602C	ENSP00000263280:R721C	R	-	1	0	STRN4	51915800	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.632000	0.67819	2.294000	0.77228	0.462000	0.41574	CGC	STRN4-002	KNOWN	NMD_exception|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466606.2		-	ENST00000391910.3	Missense_Mutation	SNP	19 : 47223960 - 47223960 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	275	47
CACNB2	783	broad.mit.edu	37	10	18828568	18828568	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18828568G>A	ENST00000396576.2	+	13	2234	c.1733G>A	c.(1732-1734)cGc>cAc	p.R578H	CACNB2_ENST00000352115.6_Missense_Mutation_p.R609H|CACNB2_ENST00000377328.1_Missense_Mutation_p.R383H|CACNB2_ENST00000282343.8_Missense_Mutation_p.R605H|CACNB2_ENST00000377315.4_Missense_Mutation_p.R585H|CACNB2_ENST00000377319.3_Missense_Mutation_p.R540H|CACNB2_ENST00000377331.2_Missense_Mutation_p.R581H|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000324631.7_Missense_Mutation_p.R633H|CACNB2_ENST00000377329.4_Missense_Mutation_p.R579H	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	633					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCCAAGGATCGCTACTGTGAA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	64	66			NA	NA	10		NA											NA				18828568		2203	4300	6503	SO:0001583	missense			U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995	783	783		Calcium channel subunits	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2	NA	9254841, 8494331	Standard	NM_000724	NM_201596	NA	Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000396576.2:c.1733G>A	10.37:g.18828568G>A	ENSP00000379821:p.Arg578His	NA	A6PVM5|A6PVM8|O00304|Q5VVG9|Q5VVH0|Q5VWV6|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	37	CCDS7128.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743626	0.69418	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;T;D;D;T;D;D;D;D	0.86097	-1.85;1.95;-2.07;-1.84;1.95;-1.96;-1.98;-1.96;-1.96	5.7	5.7	0.88788	.	0.402357	0.29900	N	0.010916	D	0.88209	0.6375	L	0.50333	1.59	0.58432	D	0.999999	P;P;D;P;D;P;D;P;D;P;D;D;D	0.89917	0.63;0.924;1.0;0.924;0.987;0.955;0.969;0.746;0.974;0.955;0.993;0.992;0.969	B;P;P;B;P;P;P;B;P;P;P;P;P	0.62560	0.217;0.468;0.904;0.344;0.668;0.669;0.468;0.388;0.55;0.669;0.681;0.822;0.468	D	0.88470	0.3061	10	0.87932	D	0	-14.0587	10.8677	0.46864	0.1137:0.0:0.8863:0.0	.	547;605;383;585;555;579;589;540;581;605;595;609;633	B7Z1U5;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	H	633;609;383;605;581;578;540;579;585	ENSP00000320025:R633H;ENSP00000344474:R609H;ENSP00000366545:R383H;ENSP00000282343:R605H;ENSP00000366548:R581H;ENSP00000379821:R578H;ENSP00000366536:R540H;ENSP00000366546:R579H;ENSP00000366532:R585H	ENSP00000282343:R605H	R	+	2	0	CACNB2	18868574	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.756000	0.55205	2.703000	0.92315	0.655000	0.94253	CGC	CACNB2-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047074.2		+	ENST00000396576.2	Missense_Mutation	SNP	10 : 18828568 - 18828568 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	489	77
STARD4	134429	broad.mit.edu	37	5	110835588	110835588	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:110835588A>G	ENST00000296632.3	-	6	748	c.614T>C	c.(613-615)tTa>tCa	p.L205S	STARD4_ENST00000512160.1_3'UTR	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	205	START.				lipid transport		lipid binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		TGCCTCTCATAAAGCTTTTCG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	129	132			NA	NA	5		NA											NA				110835588		2202	4300	6502	SO:0001583	missense			AF480299	CCDS4104.1	5q22	2011-09-12	2007-08-16		ENSG00000164211	ENSG00000164211	134429	134429		StAR-related lipid transfer (START) domain containing	18058	protein-coding gene	gene with protein product		607049	START domain containing 4, sterol regulated		NA	12011452	Standard	NM_139164	NM_139164	NA	Approved		uc003kph.1	Q96DR4	OTTHUMG00000128793	ENST00000296632.3:c.614T>C	5.37:g.110835588A>G	ENSP00000296632:p.Leu205Ser	NA		37	CCDS4104.1	.	.	.	.	.	.	.	.	.	.	A	19.90	3.912125	0.72983	.	.	ENSG00000164211	ENST00000296632	D	0.92099	-2.97	4.85	4.85	0.62838	Lipid-binding START (1);	0.000000	0.56097	D	0.000021	D	0.95066	0.8402	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95434	0.8519	10	0.87932	D	0	-11.0684	13.4591	0.61217	1.0:0.0:0.0:0.0	.	205	Q96DR4	STAR4_HUMAN	S	205	ENSP00000296632:L205S	ENSP00000296632:L205S	L	-	2	0	STARD4	110863487	0.862000	0.29867	0.005000	0.12908	0.258000	0.26162	3.302000	0.51849	2.173000	0.68751	0.528000	0.53228	TTA	STARD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250720.1		-	ENST00000296632.3	Missense_Mutation	SNP	5 : 110835588 - 110835588 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	408	77
GFM1	85476	broad.mit.edu	37	3	158364658	158364658	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:158364658A>G	ENST00000486715.1	+	4	851	c.494A>G	c.(493-495)tAc>tGc	p.Y165C	GFM1_ENST00000478576.1_Missense_Mutation_p.Y165C|GFM1_ENST00000264263.5_Missense_Mutation_p.Y165C	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1	165					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			ATGAAGCGCTACAACGTTCCG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	144	151			NA	NA	3		NA											NA				158364658		2203	4300	6503	SO:0001583	missense			AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827	85476	85476			13780	protein-coding gene	gene with protein product		606639	G translation elongation factor, mitochondrial		NA	11374907, 11735030	Standard	NM_024996	NM_024996	NA	Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.494A>G	3.37:g.158364658A>G	ENSP00000419038:p.Tyr165Cys	NA	A6NCI9|B2RCB9|B3KRW1|Q6GTN2|Q96T39	37	CCDS33885.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.244912	0.79912	.	.	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263	T;T;T	0.74947	-0.89;-0.89;-0.89	5.86	5.86	0.93980	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.93360	0.7883	H	0.99890	4.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96582	0.9431	10	0.87932	D	0	-16.7381	16.316	0.82928	1.0:0.0:0.0:0.0	.	165;165;165	Q96RP9-2;Q96RP9;C9IZ01	.;EFGM_HUMAN;.	C	165	ENSP00000419038:Y165C;ENSP00000418755:Y165C;ENSP00000264263:Y165C	ENSP00000264263:Y165C	Y	+	2	0	GFM1	159847352	1.000000	0.71417	0.989000	0.46669	0.641000	0.38312	8.884000	0.92432	2.248000	0.74166	0.524000	0.50904	TAC	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352271.1		+	ENST00000486715.1	Missense_Mutation	SNP	3 : 158364658 - 158364658 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	248	7
GLTSCR1L	23506	broad.mit.edu	37	6	42796339	42796339	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42796339G>A	ENST00000314073.5	+	6	444	c.268G>A	c.(268-270)Gag>Aag	p.E90K	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.E90K					GLTSCR1-like	NA											NA						AGATGAACTCGAGTCTTCTCC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	103	109			NA	NA	6		NA											NA				42796339		2203	4300	6503	SO:0001583	missense			AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624	23506	23506			21111	protein-coding gene	gene with protein product			KIAA0240	KIAA0240	NA		Standard	NM_015349	XM_005248972	NA	Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.268G>A	6.37:g.42796339G>A	ENSP00000313933:p.Glu90Lys	NA		37	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905737	0.52333	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.46063	0.88;0.88	5.81	5.81	0.92471	.	0.174851	0.40469	N	0.001081	T	0.26159	0.0638	L	0.36672	1.1	0.51482	D	0.999926	P;D;D	0.60160	0.681;0.975;0.987	B;B;P	0.45343	0.232;0.381;0.477	T	0.02797	-1.1109	10	0.10636	T	0.68	-23.7639	20.4375	0.99097	0.0:0.0:1.0:0.0	.	90;90;90	F5H616;Q6AI39;B7Z2G7	.;K0240_HUMAN;.	K	90	ENSP00000313933:E90K;ENSP00000377723:E90K	ENSP00000313933:E90K	E	+	1	0	KIAA0240	42904317	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.857000	0.92250	2.906000	0.99361	0.655000	0.94253	GAG	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040562.3		+	ENST00000314073.5	Missense_Mutation	SNP	6 : 42796339 - 42796339 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	325	67
PTPRH	5794	broad.mit.edu	37	19	55696921	55696921	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55696921C>T	ENST00000376350.3	-	18	3033	c.3011G>A	c.(3010-3012)cGg>cAg	p.R1004Q	PTPRH_ENST00000263434.5_Missense_Mutation_p.R826Q	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1004	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CAGCCACTGCCGAAGCATCCT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	54	47	50		2477,3011	4.2	0	19		50	0,8600		0,0,4300	no	missense,missense	PTPRH	NM_001161440.1,NM_002842.3	43,43	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging	826/938,1004/1116	55696921	1,13005	2203	4300	6503	SO:0001583	missense				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031	5794	5794		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing	9672	protein-coding gene	gene with protein product		602510			NA	8294459	Standard		XM_006723312	NA	Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.3011G>A	19.37:g.55696921C>T	ENSP00000365528:p.Arg1004Gln	NA	Q15426|Q2NKN9|Q2NKP0	37	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568486	0.65651	2.27E-4	0.0	ENSG00000080031	ENST00000376350;ENST00000263434	D;D	0.84070	-1.8;-1.8	5.21	4.18	0.49190	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.280866	0.19786	N	0.106116	D	0.86197	0.5875	L	0.37466	1.105	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.77557	0.987;0.99	D	0.86387	0.1733	10	0.56958	D	0.05	.	13.0867	0.59144	0.0:0.9202:0.0:0.0798	.	826;1004	C9JCH2;Q9HD43	.;PTPRH_HUMAN	Q	1004;826	ENSP00000365528:R1004Q;ENSP00000263434:R826Q	ENSP00000263434:R826Q	R	-	2	0	PTPRH	60388733	0.090000	0.21635	0.040000	0.18447	0.275000	0.26752	2.734000	0.47368	1.357000	0.45904	0.650000	0.86243	CGG	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452649.1		-	ENST00000376350.3	Missense_Mutation	SNP	19 : 55696921 - 55696921 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	247	30
CTNND1	1500	broad.mit.edu	37	11	57564342	57564342	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57564342G>A	ENST00000524630.1	+	6	1347	c.834G>A	c.(832-834)gaG>gaA	p.E278E	CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000358694.6_Silent_p.E278E|CTNND1_ENST00000532787.1_Silent_p.E177E|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000529986.1_Silent_p.E177E|CTNND1_ENST00000361332.4_Silent_p.E278E|CTNND1_ENST00000529873.1_Silent_p.E224E|CTNND1_ENST00000532463.1_Silent_p.E177E|CTNND1_ENST00000529526.1_Silent_p.E224E|CTNND1_ENST00000534579.1_Silent_p.E224E|CTNND1_ENST00000426142.2_Silent_p.E177E|CTNND1_ENST00000529919.1_Silent_p.E278E|CTNND1_ENST00000528232.1_Silent_p.E177E|CTNND1_ENST00000526938.1_Silent_p.E278E|CTNND1_ENST00000415361.2_Silent_p.E177E|CTNND1_ENST00000530748.1_Silent_p.E224E|CTNND1_ENST00000399039.4_Silent_p.E278E|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000361796.4_Silent_p.E278E|CTNND1_ENST00000526357.1_Silent_p.E224E|CTNND1_ENST00000399050.4_Silent_p.E278E|CTNND1_ENST00000530094.1_Silent_p.E177E|CTNND1_ENST00000361391.6_Silent_p.E278E|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000360682.6_Silent_p.E278E|CTNND1_ENST00000428599.2_Silent_p.E278E|CTNND1_ENST00000532245.1_Silent_p.E177E|CTNND1_ENST00000528621.1_Silent_p.E224E|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000532649.1_Silent_p.E224E|CTNND1_ENST00000532844.1_Silent_p.E224E			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	278					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TTCATCCAGAGCCTTATGGGC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	134	131			NA	NA	11		NA											NA				57564342		2132	4249	6381	SO:0001819	synonymous_variant			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561	1500	1500		Armadillo repeat containing	2515	protein-coding gene	gene with protein product		601045		CTNND	NA	8808291	Standard	NM_001331	NM_001085460	NA	Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000524630.1:c.834G>A	11.37:g.57564342G>A		NA	A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	37	CCDS44606.1																																																																																			CTNND1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393939.2		+	ENST00000524630.1	Silent	SNP	11 : 57564342 - 57564342 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	964	172
SMOC1	64093	broad.mit.edu	37	14	70346414	70346414	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70346414G>A	ENST00000381280.4	+	1	272	c.19G>A	c.(19-21)Gcc>Acc	p.A7T	SMOC1_ENST00000555917.1_Intron|SMOC1_ENST00000361956.3_Missense_Mutation_p.A7T	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	7					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CGCGCGCTGCGCCCGCCTGCT	0.736		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													6	7	7			NA	NA	14		NA											NA				70346414		2127	4163	6290	SO:0001583	missense			AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732	64093	64093			20318	protein-coding gene	gene with protein product		608488			NA	12130637	Standard		NM_001034852	NA	Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.19G>A	14.37:g.70346414G>A	ENSP00000370680:p.Ala7Thr	NA	A8K1S3|B2R7P5|Q96F78	37	CCDS9798.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.815761	0.32145	.	.	ENSG00000198732	ENST00000361956;ENST00000381280	T;T	0.57752	0.38;0.39	5.1	3.23	0.37069	.	0.925262	0.08828	U	0.887818	T	0.27063	0.0663	N	0.08118	0	0.21897	N	0.999486	B;B	0.29805	0.257;0.167	B;B	0.19666	0.026;0.012	T	0.13629	-1.0502	10	0.11182	T	0.66	-2.7874	7.5362	0.27712	0.0926:0.1659:0.7415:0.0	.	7;7	Q9H4F8-2;Q9H4F8	.;SMOC1_HUMAN	T	7	ENSP00000355110:A7T;ENSP00000370680:A7T	ENSP00000355110:A7T	A	+	1	0	SMOC1	69416167	0.973000	0.33851	1.000000	0.80357	0.343000	0.28985	0.343000	0.19944	1.141000	0.42275	0.306000	0.20318	GCC	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412467.1		+	ENST00000381280.4	Missense_Mutation	SNP	14 : 70346414 - 70346414 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	83	12
PPP2R3A	5523	broad.mit.edu	37	3	135722249	135722249	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:135722249T>G	ENST00000264977.3	+	2	2526	c.1909T>G	c.(1909-1911)Tta>Gta	p.L637V	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	637					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCAGGCCAATTTATCAGTCTG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	81	82			NA	NA	3		NA											NA				135722249		2202	4300	6502	SO:0001583	missense			L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	5523	5523	3.1.3.16	Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits, EF-hand domain containing	9307	protein-coding gene	gene with protein product		604944	protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform, protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha	PPP2R3	NA	8392071	Standard	NM_002718	NM_002718	NA	Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.1909T>G	3.37:g.135722249T>G	ENSP00000264977:p.Leu637Val	NA	A8KAE7|B7ZAE3|Q06189|Q9NPQ5	37	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	T	0.428	-0.904797	0.02453	.	.	ENSG00000073711	ENST00000264977	T	0.05717	3.4	5.57	-1.4	0.08968	.	1.303650	0.05116	N	0.489740	T	0.03520	0.0101	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44651	-0.9314	10	0.19147	T	0.46	.	0.2744	0.00236	0.2782:0.1742:0.286:0.2616	.	637	Q06190	P2R3A_HUMAN	V	637	ENSP00000264977:L637V	ENSP00000264977:L637V	L	+	1	2	PPP2R3A	137204939	0.000000	0.05858	0.507000	0.27676	0.939000	0.58152	-0.008000	0.12788	-0.146000	0.11274	0.460000	0.39030	TTA	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357232.1		+	ENST00000264977.3	Missense_Mutation	SNP	3 : 135722249 - 135722249 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	444	82
PARPBP	55010	broad.mit.edu	37	12	102576327	102576327	+	Splice_Site	SNP	G	G	A	rs74958875		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102576327G>A	ENST00000541394.1	+	10	1521	c.1416G>A	c.(1414-1416)agG>agA	p.R472R	PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000327680.2_Splice_Site_p.R314R|PARPBP_ENST00000392911.2_Splice_Site_p.R314R|PARPBP_ENST00000378128.3_Intron|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000358383.5_Splice_Site_p.R395R			Q9NWS1	PR1BP_HUMAN	PARP1 binding protein	395					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding	p.R314S(1)|p.R395S(1)		endometrium(1)|lung(8)|urinary_tract(2)	11						TTTGACATAGGTCTCCCACAC	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(2)											40	41	41			NA	NA	12		NA											NA				102576327		2203	4299	6502	SO:0001630	splice_region_variant			AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480	55010	55010			26074	protein-coding gene	gene with protein product	PARP-1 binding protein	613687	chromosome 12 open reading frame 48	C12orf48	NA	20931645	Standard	NM_017915	NM_017915	NA	Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000541394.1:c.1416-1G>A	12.37:g.102576327G>A		NA	B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	37																																																																																				PARPBP-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000397026.1	Silent	+	ENST00000541394.1	Splice_Site	SNP	12 : 102576327 - 102576327 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	123	30
FAM57A	79850	broad.mit.edu	37	17	644642	644642	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:644642C>T	ENST00000301324.8	+	4	574	c.510C>T	c.(508-510)tcC>tcT	p.S170S	FAM57A_ENST00000308278.8_Silent_p.S202S			Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	202	TLC.					integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		TGTACTGGTCCTATGGCCGCC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	116	124			NA	NA	17		NA											NA				644642		2203	4300	6503	SO:0001819	synonymous_variant			AK025935	CCDS10996.1	17p13.3	2014-08-14				ENSG00000167695	79850	79850			29646	protein-coding gene	gene with protein product		611627			NA	12270127	Standard	NM_024792	NM_024792	NA	Approved	FLJ22282, CT120	uc002frp.3	Q8TBR7		ENST00000301324.8:c.510C>T	17.37:g.644642C>T		NA	A8K7Q0|Q7Z464|Q96D97|Q9H6H3	37																																																																																				FAM57A-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000437157.1		+	ENST00000301324.8	Silent	SNP	17 : 644642 - 644642 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	392	81
ATP2B1	490	broad.mit.edu	37	12	90024332	90024332	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:90024332G>T	ENST00000428670.3	-	6	1334	c.878C>A	c.(877-879)gCt>gAt	p.A293D	ATP2B1_ENST00000359142.3_Missense_Mutation_p.A293D|ATP2B1_ENST00000393164.2_Missense_Mutation_p.A36D|ATP2B1_ENST00000261173.2_Missense_Mutation_p.A293D|ATP2B1_ENST00000348959.3_Missense_Mutation_p.A293D			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	293					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						ttcACCTCCAGCTCCAAGTAA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	64	66			NA	NA	12		NA											NA				90024332		2203	4300	6503	SO:0001583	missense			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	490	490	3.6.3.8	ATPases / P-type	814	protein-coding gene	gene with protein product	plasma membrane calcium-transporting ATPase 1	108731			NA	1674727	Standard	NM_001682	NM_001682	NA	Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.878C>A	12.37:g.90024332G>T	ENSP00000392043:p.Ala293Asp	NA	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	37	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935294	0.73442	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67;-2.67	5.42	5.42	0.78866	.	0.221912	0.46758	D	0.000261	D	0.87116	0.6097	L	0.29908	0.895	0.80722	D	1	P;B	0.46512	0.879;0.045	B;B	0.43103	0.408;0.093	D	0.85982	0.1483	9	.	.	.	-31.7678	19.2222	0.93801	0.0:0.0:1.0:0.0	.	293;293	P20020-3;P20020-2	.;.	D	293;293;293;293;36	ENSP00000261173:A293D;ENSP00000343599:A293D;ENSP00000352054:A293D;ENSP00000392043:A293D;ENSP00000376869:A36D	.	A	-	2	0	ATP2B1	88548463	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.213000	0.72194	2.555000	0.86185	0.650000	0.86243	GCT	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406653.1		-	ENST00000428670.3	Missense_Mutation	SNP	12 : 90024332 - 90024332 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	204	41
MAVS	57506	broad.mit.edu	37	20	3841982	3841982	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3841982C>T	ENST00000428216.2	+	4	424	c.296C>T	c.(295-297)aCc>aTc	p.T99I	MAVS_ENST00000358134.6_Intron|MAVS_ENST00000416600.2_5'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	99					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCTCTAGGGACCTCGGACCGT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	67	69			NA	NA	20		NA											NA				3841982		2203	4300	6503	SO:0001583	missense			DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888	57506	57506			29233	protein-coding gene	gene with protein product	virus-induced signaling adaptor, IFN-B promoter stimulator 1, CARD adaptor inducing IFN-beta	609676			NA	16125763, 16153868	Standard	NM_020746	NM_020746	NA	Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.296C>T	20.37:g.3841982C>T	ENSP00000401980:p.Thr99Ile	NA	Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	37	CCDS33437.1	.	.	.	.	.	.	.	.	.	.	C	9.070	0.996648	0.19043	.	.	ENSG00000088888	ENST00000428216	T	0.12984	2.63	3.55	-7.11	0.01542	.	2.099370	0.02440	N	0.084452	T	0.09905	0.0243	L	0.44542	1.39	0.09310	N	0.999999	B	0.34241	0.444	B	0.32090	0.14	T	0.06826	-1.0805	10	0.48119	T	0.1	6.6292	2.2226	0.03976	0.515:0.1266:0.1899:0.1685	.	99	Q7Z434	MAVS_HUMAN	I	99	ENSP00000401980:T99I	ENSP00000401980:T99I	T	+	2	0	MAVS	3789982	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-2.457000	0.01001	-2.885000	0.00317	0.591000	0.81541	ACC	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077784.3		+	ENST00000428216.2	Missense_Mutation	SNP	20 : 3841982 - 3841982 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	547	85
AHCTF1	25909	broad.mit.edu	37	1	247013133	247013133	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247013133G>A	ENST00000366508.1	-	33	6416	c.6280C>T	c.(6280-6282)Cgt>Tgt	p.R2094C	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Missense_Mutation_p.R2059C|AHCTF1_ENST00000326225.3_Missense_Mutation_p.R2068C			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2059	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGCAATGAACGTTTTTGGCTT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(145;197 1800 4745 15099 26333)							NA				0													223	191	202			NA	NA	1		NA											NA				247013133		2203	4300	6503	SO:0001583	missense				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207	25909	25909			24618	protein-coding gene	gene with protein product	ELYS transcription factor like protein TMBS62	610853			NA	11952839	Standard	NM_015446	NM_015446	NA	Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000366508.1:c.6280C>T	1.37:g.247013133G>A	ENSP00000355464:p.Arg2094Cys	NA	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	37		.	.	.	.	.	.	.	.	.	.	G	6.668	0.491884	0.12702	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.34472	1.36;1.36;1.36	5.84	-6.14	0.02111	.	1.881720	0.02109	N	0.054606	T	0.26195	0.0639	L	0.44542	1.39	0.09310	N	1	B;B	0.16603	0.018;0.011	B;B	0.10450	0.005;0.002	T	0.20107	-1.0285	10	0.56958	D	0.05	4.6019	2.6008	0.04866	0.1314:0.319:0.2688:0.2807	.	2094;2059	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	C	2094;2068;2059	ENSP00000355464:R2094C;ENSP00000355465:R2068C;ENSP00000375705:R2059C	ENSP00000355465:R2068C	R	-	1	0	AHCTF1	245079756	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.163000	0.09997	-1.113000	0.02981	-0.795000	0.03280	CGT	AHCTF1-001	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000097817.1		-	ENST00000366508.1	Missense_Mutation	SNP	1 : 247013133 - 247013133 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	566	23
PTPDC1	138639	broad.mit.edu	37	9	96846909	96846909	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96846909C>T	ENST00000288976.3	+	1	164	c.97C>T	c.(97-99)Cgg>Tgg	p.R33W	PTPDC1_ENST00000375360.3_Intron	NM_001253829.1|NM_152422.4	NP_001240758.1|NP_689635.3	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	0							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CCCAGTACTGCGGCTGCAGCA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	35	35			NA	NA	9		NA											NA				96846909		2182	4269	6451	SO:0001583	missense			BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079	138639	138639		Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s	30184	protein-coding gene	gene with protein product	protein tyrosine phosphatase PTP9Q22				NA	14702039	Standard	NM_177995, NM_152422	NM_152422	NA	Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000288976.3:c.97C>T	9.37:g.96846909C>T	ENSP00000288976:p.Arg33Trp	NA	Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	37	CCDS6708.1	.	.	.	.	.	.	.	.	.	.	.	12.22	1.872737	0.33069	.	.	ENSG00000158079	ENST00000288976	T	0.16324	2.35	5.68	1.35	0.21983	.	1.591560	0.03622	N	0.236556	T	0.12689	0.0308	N	0.22421	0.69	0.09310	N	1	B;B	0.18310	0.016;0.027	B;B	0.12837	0.003;0.008	T	0.31392	-0.9945	10	0.62326	D	0.03	0.0487	4.2931	0.10888	0.3229:0.4473:0.0:0.2298	.	33;33	E7EN59;A2A3K4-2	.;.	W	33	ENSP00000288976:R33W	ENSP00000288976:R33W	R	+	1	2	PTPDC1	95886730	0.900000	0.30661	0.011000	0.14972	0.734000	0.41952	0.803000	0.27083	0.034000	0.15491	0.591000	0.81541	CGG	PTPDC1-002	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053171.2		+	ENST00000288976.3	Missense_Mutation	SNP	9 : 96846909 - 96846909 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	488	86
ASPM	259266	broad.mit.edu	37	1	197073218	197073218	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197073218C>A	ENST00000367409.4	-	18	5419	c.5163G>T	c.(5161-5163)aaG>aaT	p.K1721N	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1721					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACTCTTCTCTCTTTTGTGCAG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	115	115			NA	NA	1		NA											NA				197073218		2203	4298	6501	SO:0001583	missense			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279	259266	259266			19048	protein-coding gene	gene with protein product		605481	microcephaly, primary autosomal recessive 5, asp (abnormal spindle)-like, microcephaly associated (Drosophila)	MCPH5	NA	11078481	Standard	NM_018136	NM_018136	NA	Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5163G>T	1.37:g.197073218C>A	ENSP00000356379:p.Lys1721Asn	NA	Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759433	0.31137	.	.	ENSG00000066279	ENST00000367409	T	0.58940	0.3	5.98	3.03	0.35002	.	1.189960	0.05684	N	0.590992	T	0.56366	0.1980	M	0.75447	2.3	0.30637	N	0.756886	D	0.57257	0.979	P	0.45474	0.482	T	0.52895	-0.8514	10	0.23891	T	0.37	.	1.1784	0.01840	0.1348:0.3712:0.1663:0.3277	.	1721	Q8IZT6	ASPM_HUMAN	N	1721	ENSP00000356379:K1721N	ENSP00000356379:K1721N	K	-	3	2	ASPM	195339841	0.001000	0.12720	0.271000	0.24616	0.445000	0.32107	0.123000	0.15708	0.867000	0.35654	0.585000	0.79938	AAG	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088256.1		-	ENST00000367409.4	Missense_Mutation	SNP	1 : 197073218 - 197073218 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	824	75
ATN1	1822	broad.mit.edu	37	12	7046106	7046106	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7046106G>T	ENST00000356654.4	+	5	1913	c.1676G>T	c.(1675-1677)aGc>aTc	p.S559I	ATN1_ENST00000396684.2_Missense_Mutation_p.S559I	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	559	Involved in binding BAIAP2.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GTGTCCTACAGCCAAGCAGGC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	104	112			NA	NA	12		NA											NA				7046106		2203	4300	6503	SO:0001583	missense			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676	1822	1822			3033	protein-coding gene	gene with protein product		607462	dentatorubral-pallidoluysian atrophy (atrophin-1)	D12S755E, DRPLA	NA	8136826	Standard	NM_001940	NM_001940	NA	Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1676G>T	12.37:g.7046106G>T	ENSP00000349076:p.Ser559Ile	NA	Q99495|Q99621|Q9UEK7	37	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	g	7.124	0.578461	0.13686	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.55930	0.49;0.49;0.49	3.46	2.53	0.30540	.	0.187035	0.25753	U	0.028527	T	0.33440	0.0863	N	0.22421	0.69	0.33143	D	0.544626	B	0.09022	0.002	B	0.11329	0.006	T	0.30060	-0.9991	10	0.33141	T	0.24	.	6.7927	0.23709	0.0942:0.0:0.7335:0.1723	.	559	P54259	ATN1_HUMAN	I	559;559;559;144	ENSP00000349076:S559I;ENSP00000379915:S559I;ENSP00000441744:S559I	ENSP00000229279:S144I	S	+	2	0	ATN1	6916367	0.978000	0.34361	1.000000	0.80357	0.608000	0.37181	1.073000	0.30691	0.751000	0.32900	0.586000	0.80456	AGC	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401948.2		+	ENST00000356654.4	Missense_Mutation	SNP	12 : 7046106 - 7046106 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	595	115
SARDH	1757	broad.mit.edu	37	9	136573457	136573457	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136573457G>A	ENST00000371872.4	-	11	1679	c.1422C>T	c.(1420-1422)caC>caT	p.H474H	SARDH_ENST00000422262.2_Silent_p.H306H|SARDH_ENST00000439388.1_Silent_p.H474H	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	474					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GCGGCTCATCGTGGGGGAAGA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	93	93			NA	NA	9		NA											NA				136573457		2203	4300	6503	SO:0001819	synonymous_variant				CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1757	1757	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1	NA	10444331	Standard		NM_007101	NA	Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1422C>T	9.37:g.136573457G>A		NA	B2RMR5|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	37	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	G	8.224	0.803202	0.16397	.	.	ENSG00000123453	ENST00000539227	.	.	.	5.16	0.649	0.17806	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-39.7047	9.7065	0.40218	0.4372:0.0:0.5628:0.0	.	.	.	.	X	474	.	ENSP00000441529:R474X	R	-	1	2	SARDH	135563278	0.907000	0.30839	1.000000	0.80357	0.714000	0.41099	0.095000	0.15127	0.201000	0.20466	-0.251000	0.11542	CGA	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054931.1		-	ENST00000371872.4	Silent	SNP	9 : 136573457 - 136573457 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	655	79
SPTBN2	6712	broad.mit.edu	37	11	66456195	66456195	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66456195G>A	ENST00000533211.1	-	31	6491	c.6160C>T	c.(6160-6162)Cgg>Tgg	p.R2054W	SPTBN2_ENST00000309996.2_Missense_Mutation_p.R2054W|SPTBN2_ENST00000529997.1_Missense_Mutation_p.R2054W			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2054					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCCTCGTGCCGCTTGATGAGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	59	63			NA	NA	11		NA											NA				66456195		2200	4295	6495	SO:0001583	missense			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898	6712	6712		Pleckstrin homology (PH) domain containing	11276	protein-coding gene	gene with protein product		604985	spinocerebellar ataxia 5	SCA5	NA	9826670, 16429157	Standard	NM_006946	NM_006946	NA	Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.6160C>T	11.37:g.66456195G>A	ENSP00000432568:p.Arg2054Trp	NA	O14872|O14873	37	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195842	0.78902	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.69306	-0.39;-0.39;-0.39	4.77	3.78	0.43462	.	0.062854	0.64402	D	0.000005	T	0.79522	0.4460	M	0.73430	2.235	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.81593	-0.0862	10	0.87932	D	0	.	11.9891	0.53166	0.0:0.0:0.7502:0.2498	.	2054	O15020	SPTN2_HUMAN	W	2054	ENSP00000432568:R2054W;ENSP00000311489:R2054W;ENSP00000433593:R2054W	ENSP00000311489:R2054W	R	-	1	2	SPTBN2	66212771	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.022000	0.49659	2.477000	0.83638	0.591000	0.81541	CGG	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393892.2		-	ENST00000533211.1	Missense_Mutation	SNP	11 : 66456195 - 66456195 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	314	60
PCDHB12	56124	broad.mit.edu	37	5	140590692	140590692	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140590692A>G	ENST00000239450.2	+	1	2402	c.2213A>G	c.(2212-2214)gAc>gGc	p.D738G	PCDHB12_ENST00000541609.1_Missense_Mutation_p.D401G	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	738					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATCTGGTGGACGTGAGTGGC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	75	74			NA	NA	5		NA											NA				140590692		2203	4300	6503	SO:0001583	missense			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328	56124	56124		Cadherins / Protocadherins : Clustered	8683	other	protocadherin		606338			NA	10380929	Standard	NM_018932	NM_018932	NA	Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.2213A>G	5.37:g.140590692A>G	ENSP00000239450:p.Asp738Gly	NA		37	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	A	12.80	2.047246	0.36085	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.53640	0.61;0.77	3.4	2.21	0.28008	.	.	.	.	.	T	0.43144	0.1234	M	0.70595	2.14	0.25453	N	0.987989	B	0.27679	0.185	B	0.32342	0.144	T	0.36744	-0.9735	9	0.17369	T	0.5	.	5.5502	0.17086	0.7279:0.1719:0.1002:0.0	.	738	Q9Y5F1	PCDBC_HUMAN	G	401;738;358	ENSP00000440199:D401G;ENSP00000239450:D738G	ENSP00000239450:D738G	D	+	2	0	PCDHB12	140570876	0.997000	0.39634	0.218000	0.23776	0.116000	0.19942	3.553000	0.53713	0.344000	0.23847	0.392000	0.25879	GAC	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251815.2		+	ENST00000239450.2	Missense_Mutation	SNP	5 : 140590692 - 140590692 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1006	158
ITPR1	3708	broad.mit.edu	37	3	4836804	4836804	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4836804G>A	ENST00000357086.4	+	50	7068	c.6720G>A	c.(6718-6720)tcG>tcA	p.S2240S	ITPR1_ENST00000354582.6_Silent_p.S2273S|ITPR1_ENST00000302640.8_Silent_p.S2273S|ITPR1_ENST00000456211.2_Silent_p.S2225S|ITPR1_ENST00000443694.2_Silent_p.S2273S|ITPR1_ENST00000423119.2_Silent_p.S2240S|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2288					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GCAGCATTTCGTTTAACCTGG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,,	1,4107		0,1,2053	127	124	125		6720,6819,6675	-5.7	0	3		125	0,8402		0,0,4201	no	coding-synonymous,coding-synonymous,coding-synonymous	ITPR1	NM_001099952.2,NM_001168272.1,NM_002222.5	,,	0,1,6254	AA,AG,GG	NA	0.0,0.0243,0.0080	,,	2240/2711,2273/2744,2225/2696	4836804	1,12509	2054	4201	6255	SO:0001819	synonymous_variant			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995	3708	3708		Ion channels / Inositol triphosphate receptors	6180	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 94	147265	spinocerebellar ataxia 15, spinocerebellar ataxia 16, spinocerebellar ataxia 29	SCA15, SCA16, SCA29	NA	7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_002222	NM_001099952	NA	Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000357086.4:c.6720G>A	3.37:g.4836804G>A		NA	Q14660|Q99897	37	CCDS46740.2																																																																																			ITPR1-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337979.3		+	ENST00000357086.4	Silent	SNP	3 : 4836804 - 4836804 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	154	31
GALNT7	51809	broad.mit.edu	37	4	174235199	174235199	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:174235199G>A	ENST00000265000.4	+	9	1563	c.1480G>A	c.(1480-1482)Gat>Aat	p.D494N		NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	494					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		ACCATATGGGGATATATCGGA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	92	92			NA	NA	4		NA											NA				174235199		2203	4300	6503	SO:0001583	missense			AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586	51809	51809		Glycosyltransferase family 2 domain containing	4129	protein-coding gene	gene with protein product	polypeptide GalNAc transferase 7	605005	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)		NA	10544240	Standard	NM_017423	NM_017423	NA	Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.1480G>A	4.37:g.174235199G>A	ENSP00000265000:p.Asp494Asn	NA	B3KQU3|Q7Z5W7|Q9UJ28	37	CCDS3815.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.444255|5.444255	0.96187|0.96187	.|.	.|.	ENSG00000109586|ENSG00000109586	ENST00000265000|ENST00000503213	T|T	0.66280|0.66995	-0.2|-0.24	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78027|0.78027	0.4219|0.4219	L|L	0.58925|0.58925	1.835|1.835	0.80722|0.80722	D|D	1|1	D|.	0.59357|.	0.985|.	P|.	0.48921|.	0.595|.	T|T	0.79230|0.79230	-0.1889|-0.1889	10|7	0.46703|0.87932	T|D	0.11|0	.|.	19.605|19.605	0.95577|0.95577	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	494|.	Q86SF2|.	GALT7_HUMAN|.	N|E	494|64	ENSP00000265000:D494N|ENSP00000427341:G64E	ENSP00000265000:D494N|ENSP00000427341:G64E	D|G	+|+	1|2	0|0	GALNT7|GALNT7	174471774|174471774	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.885000|0.885000	0.51271|0.51271	9.869000|9.869000	0.99810|0.99810	2.635000|2.635000	0.89317|0.89317	0.655000|0.655000	0.94253|0.94253	GAT|GGA	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362456.2		+	ENST00000265000.4	Missense_Mutation	SNP	4 : 174235199 - 174235199 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	431	86
IGF1R	3480	broad.mit.edu	37	15	99500663	99500663	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99500663A>G	ENST00000558762.1	+	21	4631	c.4093A>G	c.(4093-4095)Acc>Gcc	p.T1365A	IGF1R_ENST00000268035.6_Missense_Mutation_p.T1366A|RP11-654A16.3_ENST00000559468.1_RNA			P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1366					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CCAGTCTTCGACCTGCTGATC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443	3480	3480		CD molecules, Fibronectin type III domain containing	5465	protein-coding gene	gene with protein product		147370			NA	1316909	Standard	NM_000875	XM_006720486	NA	Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000558762.1:c.4093A>G	15.37:g.99500663A>G	ENSP00000453007:p.Thr1365Ala	NA	B1B5Y2|Q14CV2|Q9UCC0	37		.	.	.	.	.	.	.	.	.	.	A	7.662	0.685143	0.14973	.	.	ENSG00000140443	ENST00000268035	T	0.72615	-0.67	5.67	4.55	0.56014	.	0.101038	0.41396	D	0.000887	T	0.24812	0.0602	N	0.00237	-1.79	0.42249	D	0.991965	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47156	-0.9139	10	0.02654	T	1	.	3.2816	0.06917	0.6614:0.0:0.3386:0.0	.	1365;1366	C9J5X1;P08069	.;IGF1R_HUMAN	A	1366	ENSP00000268035:T1366A	ENSP00000268035:T1366A	T	+	1	0	IGF1R	97318186	1.000000	0.71417	0.923000	0.36655	0.965000	0.64279	7.583000	0.82559	2.159000	0.67721	0.455000	0.32223	ACC	IGF1R-002	NOVEL	NAGNAG_splice_site|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000415271.1		+	ENST00000558762.1	Missense_Mutation	SNP	15 : 99500663 - 99500663 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	66
ZNF460	10794	broad.mit.edu	37	19	57802419	57802419	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57802419C>A	ENST00000360338.3	+	3	832	c.510C>A	c.(508-510)tcC>tcA	p.S170S	ZNF460_ENST00000537645.1_Silent_p.S129S	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGGAAAATTCCTATAAATTCG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	110	110			NA	NA	19		NA											NA				57802419		2203	4300	6503	SO:0001819	synonymous_variant			X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714	10794	10794		Zinc fingers, C2H2-type, -	21628	protein-coding gene	gene with protein product		604755	zinc finger protein 272	ZNF272	NA	15004467	Standard	NM_006635	NM_006635	NA	Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.510C>A	19.37:g.57802419C>A		NA	A4FU64|Q2VPC7|Q6VSF8	37	CCDS12949.1																																																																																			ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465727.1		+	ENST00000360338.3	Silent	SNP	19 : 57802419 - 57802419 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	749	146
TIMM21	29090	broad.mit.edu	37	18	71822623	71822623	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:71822623C>T	ENST00000580087.1	+	3	733	c.447C>T	c.(445-447)tgC>tgT	p.C149C	TIMM21_ENST00000169551.6_Silent_p.C149C			Q9BVV7	TI21L_HUMAN	translocase of inner mitochondrial membrane 21 homolog (yeast)	149					protein transport|transmembrane transport	integral to membrane|mitochondrial membrane					NA						TAGAAAAATGCAGATCACATC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	105	107			NA	NA	18		NA											NA				71822623		2203	4300	6503	SO:0001819	synonymous_variant			BC000892	CCDS12003.1	18q22.3	2011-11-25	2011-11-25	2011-11-25	ENSG00000075336	ENSG00000075336	29090	29090			25010	protein-coding gene	gene with protein product		615180	chromosome 18 open reading frame 55	C18orf55	NA	11042152	Standard	NM_014177	NM_014177	NA	Approved	HSPC154, TIM21	uc010dqr.1	Q9BVV7	OTTHUMG00000132844	ENST00000580087.1:c.447C>T	18.37:g.71822623C>T		NA	Q9P010	37																																																																																				TIMM21-002	PUTATIVE	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000444234.1		+	ENST00000580087.1	Silent	SNP	18 : 71822623 - 71822623 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	73
UGT3A1	133688	broad.mit.edu	37	5	35965630	35965630	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35965630C>A	ENST00000507113.1	-	3	791	c.599G>T	c.(598-600)aGg>aTg	p.R200M	UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000333811.4_Missense_Mutation_p.R180M|UGT3A1_ENST00000503189.1_Missense_Mutation_p.R234M|UGT3A1_ENST00000274278.3_Missense_Mutation_p.R234M			Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	234						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAAAACTGGCCTAGAGCCTTC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	120	119			NA	NA	5		NA											NA				35965630		2203	4300	6503	SO:0001583	missense				CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626	133688	133688		UDP glucuronosyltransferases	26625	protein-coding gene	gene with protein product					NA		Standard	NM_152404	NM_152404	NA	Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000507113.1:c.599G>T	5.37:g.35965630C>A	ENSP00000426100:p.Arg200Met	NA	Q8NAW4|Q96DM6	37		.	.	.	.	.	.	.	.	.	.	C	12.91	2.080064	0.36662	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113;ENST00000333811	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	3.05	1.11	0.20524	.	0.164576	0.37136	N	0.002234	T	0.66268	0.2772	L	0.56199	1.76	0.27177	N	0.960757	D;D;P;D	0.89917	1.0;0.994;0.93;0.995	D;D;P;D	0.80764	0.994;0.971;0.79;0.971	T	0.58668	-0.7596	10	0.87932	D	0	.	8.5558	0.33480	0.0:0.7899:0.0:0.2101	.	200;234;180;234	E9PD17;B7Z8Q8;G5E961;Q6NUS8	.;.;.;UD3A1_HUMAN	M	234;234;200;180	ENSP00000274278:R234M;ENSP00000427079:R234M;ENSP00000426100:R200M;ENSP00000328033:R180M	ENSP00000274278:R234M	R	-	2	0	UGT3A1	36001387	0.765000	0.28485	0.887000	0.34795	0.557000	0.35523	1.062000	0.30555	0.083000	0.17047	0.313000	0.20887	AGG	UGT3A1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000367193.2		-	ENST00000507113.1	Missense_Mutation	SNP	5 : 35965630 - 35965630 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	564	92
VN1R2	317701	broad.mit.edu	37	19	53762652	53762652	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53762652G>A	ENST00000341702.3	+	1	1108	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	342					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		AGCTCTCTTCGATAATTCCAG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	256	229	238		1024	-1	0	19		238	0,8600		0,0,4300	no	missense	VN1R2	NM_173856.2	23	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	benign	342/396	53762652	1,13005	2203	4300	6503	SO:0001583	missense			AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131	317701	317701		Vomeronasal receptors / Type 1, GPCR / Unclassified : Vomeronasal receptors, type 1	19872	protein-coding gene	gene with protein product					NA	12123587	Standard	NM_173856	NM_173856	NA	Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.1024G>A	19.37:g.53762652G>A	ENSP00000351244:p.Asp342Asn	NA	A1L411|Q8TDU4	37	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	G	8.805	0.933902	0.18206	2.27E-4	0.0	ENSG00000196131	ENST00000341702	T	0.37058	1.22	2.79	-0.988	0.10245	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.14313	0.0346	N	0.12637	0.245	0.09310	N	1	P	0.37663	0.604	B	0.34452	0.183	T	0.18147	-1.0346	9	0.16420	T	0.52	.	3.4714	0.07569	0.1348:0.0:0.4225:0.4427	.	342	Q8NFZ6	VN1R2_HUMAN	N	342	ENSP00000351244:D342N	ENSP00000351244:D342N	D	+	1	0	VN1R2	58454464	0.000000	0.05858	0.000000	0.03702	0.354000	0.29330	-2.130000	0.01312	-0.080000	0.12685	0.590000	0.80494	GAT	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464285.1		+	ENST00000341702.3	Missense_Mutation	SNP	19 : 53762652 - 53762652 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1235	238
EGF	1950	broad.mit.edu	37	4	110864531	110864531	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110864531C>T	ENST00000509793.1	+	3	901	c.449C>T	c.(448-450)tCc>tTc	p.S150F	EGF_ENST00000503392.1_Missense_Mutation_p.S150F|EGF_ENST00000502723.1_3'UTR|EGF_ENST00000265171.5_Missense_Mutation_p.S150F	NM_001178131.1	NP_001171602.1	P01133	EGF_HUMAN	epidermal growth factor	150					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GGAAATAATTCCCACATTCTT	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	80	79			NA	NA	4		NA											NA				110864531		2202	4299	6501	SO:0001583	missense			X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798	1950	1950			3229	protein-coding gene	gene with protein product		131530	epidermal growth factor (beta-urogastrone)		NA		Standard		NM_001963	NA	Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000509793.1:c.449C>T	4.37:g.110864531C>T	ENSP00000424316:p.Ser150Phe	NA	B4DRK7|E9PBF0|Q52LZ6	37	CCDS54795.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.125930	0.56721	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	T;T;T	0.36878	1.23;1.23;1.23	5.6	5.6	0.85130	Six-bladed beta-propeller, TolB-like (1);	0.449029	0.27797	N	0.017801	T	0.56848	0.2013	M	0.78916	2.43	0.26687	N	0.971421	D;D;D	0.71674	0.996;0.998;0.993	P;D;P	0.66716	0.885;0.946;0.885	T	0.54516	-0.8282	10	0.38643	T	0.18	.	11.1892	0.48675	0.1329:0.7219:0.1451:0.0	.	150;150;150	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	F	150	ENSP00000424316:S150F;ENSP00000265171:S150F;ENSP00000421384:S150F	ENSP00000265171:S150F	S	+	2	0	EGF	111083980	0.889000	0.30405	0.749000	0.31150	0.887000	0.51463	2.230000	0.42999	2.640000	0.89533	0.650000	0.86243	TCC	EGF-002	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363798.2		+	ENST00000509793.1	Missense_Mutation	SNP	4 : 110864531 - 110864531 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	251	50
COL7A1	1294	broad.mit.edu	37	3	48621980	48621980	+	Nonsense_Mutation	SNP	C	C	A	rs149361101		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48621980C>A	ENST00000328333.8	-	35	4164	c.4057G>T	c.(4057-4059)Gga>Tga	p.G1353*	COL7A1_ENST00000454817.1_Nonsense_Mutation_p.G1353*	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1353	Interrupted collagenous region.|Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATGACTTGTCCGGGAGCCCCC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	116	114			NA	NA	3		NA											NA				48621980		2203	4300	6503	SO:0001587	stop_gained			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270	1294	1294		Collagens, Fibronectin type III domain containing	2214	protein-coding gene	gene with protein product	collagen VII, alpha-1 polypeptide, LC collagen	120120	epidermolysis bullosa, dystrophic, dominant and recessive	EBDCT, EBD1, EBR1	NA	1871109	Standard	NM_000094	NM_000094	NA	Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.4057G>T	3.37:g.48621980C>A	ENSP00000332371:p.Gly1353*	NA	Q14054|Q16507	37	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	43	10.205791	0.99359	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	.	.	.	5.33	5.33	0.75918	.	0.000000	0.46442	D	0.000289	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7269	0.77766	0.0:1.0:0.0:0.0	.	.	.	.	X	1353	.	.	G	-	1	0	COL7A1	48596984	0.003000	0.15002	0.987000	0.45799	0.235000	0.25334	0.395000	0.20850	2.489000	0.83994	0.655000	0.94253	GGA	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257519.1		-	ENST00000328333.8	Nonsense_Mutation	SNP	3 : 48621980 - 48621980 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	826	34
ZNF845	91664	broad.mit.edu	37	19	53854087	53854087	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53854087C>T	ENST00000595091.1	+	5	378	c.159C>T	c.(157-159)tgC>tgT	p.C53C	ZNF845_ENST00000458035.1_Silent_p.C53C			Q96IR2	ZN845_HUMAN	zinc finger protein 845	53	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						CTTCCAAATGCATGATGAAGG	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	25	29			NA	NA	19		NA											NA				53854087		692	1591	2283	SO:0001819	synonymous_variant			BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799	91664	91664		Zinc fingers, C2H2-type, -	25112	protein-coding gene	gene with protein product					NA		Standard	XM_039908	NM_138374	NA	Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.159C>T	19.37:g.53854087C>T		NA		37	CCDS46170.1																																																																																			ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464359.1		+	ENST00000595091.1	Silent	SNP	19 : 53854087 - 53854087 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	637	106
ZNF3	7551	broad.mit.edu	37	7	99669525	99669525	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99669525G>A	ENST00000424697.1	-	6	888	c.582C>T	c.(580-582)ccC>ccT	p.P194P	ZNF3_ENST00000303915.6_Silent_p.P194P|ZNF3_ENST00000299667.4_Silent_p.P194P|ZNF3_ENST00000413658.2_Intron	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	194					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			TGTCTCCCACGGGGAGTCTCT	0.458		NA											G	1	5e-04	NA	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	4e-04	0.95	LOWCOV,EXOME	NA	NA	0.0019	SNP								NA				0								G	,	0,4182		0,0,2091	95	100	98		,582	-3.6	0.9	7		98	1,8483		0,1,4241	no	intron,coding-synonymous	ZNF3	NM_017715.2,NM_032924.3	,	0,1,6332	AA,AG,GG	NA	0.0118,0.0,0.0079	,	,194/447	99669525	1,12665	2091	4242	6333	SO:0001819	synonymous_variant			AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05				7551	7551		Zinc fingers, C2H2-type, -	13089	protein-coding gene	gene with protein product		194510	zinc finger protein 3 (A8-51)		NA		Standard	NM_017715	NM_032924	NA	Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.582C>T	7.37:g.99669525G>A		NA	D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	37	CCDS43619.1																																																																																			ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336247.3		-	ENST00000424697.1	Silent	SNP	7 : 99669525 - 99669525 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	638	139
ATP6V0A1	535	broad.mit.edu	37	17	40660601	40660601	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40660601C>T	ENST00000343619.4	+	19	2247	c.2124C>T	c.(2122-2124)gaC>gaT	p.D708D	ATP6V0A1_ENST00000546249.1_Intron|ATP6V0A1_ENST00000537728.1_Intron|ATP6V0A1_ENST00000393829.2_Intron|ATP6V0A1_ENST00000544137.1_Silent_p.D354D|ATP6V0A1_ENST00000585525.1_Silent_p.D665D|ATP6V0A1_ENST00000264649.6_Intron	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	708					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CTTCCGAGGACGAAGTGGTAA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	145	152			NA	NA	17		NA											NA				40660601		1568	3582	5150	SO:0001819	synonymous_variant			U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627	535	535		ATPases / V-type	865	protein-coding gene	gene with protein product		192130	ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD), ATPase, H+ transporting, lysosomal V0 subunit a isoform 1, ATPase, H+ transporting, lysosomal V0 subunit A1	VPP1, ATP6N1, ATP6N1A	NA	7774924	Standard	NM_001130020	NM_001130020	NA	Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.2124C>T	17.37:g.40660601C>T		NA	Q8N5G7|Q9NSX0	37	CCDS45684.1																																																																																			ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450364.1		+	ENST00000343619.4	Silent	SNP	17 : 40660601 - 40660601 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	427	69
ABCA12	26154	broad.mit.edu	37	2	215876354	215876354	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215876354C>T	ENST00000272895.7	-	17	2360	c.2141G>A	c.(2140-2142)cGa>cAa	p.R714Q	ABCA12_ENST00000389661.4_Missense_Mutation_p.R396Q	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	714					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGTGTTCATTCGGTTGCTTCT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(66;664 1488 5121 34295)							NA				0													169	163	165			NA	NA	2		NA											NA				215876354		2203	4300	6503	SO:0001583	missense			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452	26154	26154		ATP binding cassette transporters / subfamily A	14637	protein-coding gene	gene with protein product		607800	ichthyosis congenita II, lamellar ichthyosis B	ICR2B	NA	11435397, 12915478, 8845852, 10094194	Standard	NM_173076	NM_015657	NA	Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2141G>A	2.37:g.215876354C>T	ENSP00000272895:p.Arg714Gln	NA	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	6.290	0.421623	0.11928	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.88354	-2.37;-2.37	5.28	3.43	0.39272	.	0.976699	0.08381	N	0.954575	T	0.78201	0.4246	N	0.19112	0.55	0.18873	N	0.999988	B;B	0.30741	0.293;0.085	B;B	0.26517	0.021;0.07	T	0.64071	-0.6493	10	0.11182	T	0.66	.	7.853	0.29466	0.0:0.7415:0.1669:0.0915	.	714;396	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	Q	714;396	ENSP00000272895:R714Q;ENSP00000374312:R396Q	ENSP00000272895:R714Q	R	-	2	0	ABCA12	215584599	0.058000	0.20735	0.006000	0.13384	0.359000	0.29487	0.249000	0.18216	1.352000	0.45808	0.655000	0.94253	CGA	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337111.1		-	ENST00000272895.7	Missense_Mutation	SNP	2 : 215876354 - 215876354 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	795	123
ZNF644	84146	broad.mit.edu	37	1	91406463	91406463	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91406463C>A	ENST00000370440.1	-	3	665	c.448G>T	c.(448-450)Gaa>Taa	p.E150*	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Nonsense_Mutation_p.E150*			Q9H582	ZN644_HUMAN	zinc finger protein 644	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GAACAAGATTCTGTTGTTGGC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	78	78			NA	NA	1		NA											NA				91406463		2203	4299	6502	SO:0001587	stop_gained			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482	84146	84146			29222	protein-coding gene	gene with protein product		614159			NA	10574462	Standard	NM_032186	NM_032186	NA	Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.448G>T	1.37:g.91406463C>A	ENSP00000359469:p.Glu150*	NA	A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	37	CCDS731.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528257	0.64860	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000541557	.	.	.	5.77	5.77	0.91146	.	0.066947	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-19.1133	19.9855	0.97347	0.0:1.0:0.0:0.0	.	.	.	.	X	150	.	ENSP00000337008:E150X	E	-	1	0	ZNF644	91179051	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	5.677000	0.68142	2.715000	0.92844	0.655000	0.94253	GAA	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000027846.2		-	ENST00000370440.1	Nonsense_Mutation	SNP	1 : 91406463 - 91406463 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	504	109
USP45	85015	broad.mit.edu	37	6	99893884	99893884	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99893884A>G	ENST00000327681.6	-	14	2296	c.1764T>C	c.(1762-1764)tgT>tgC	p.C588C	USP45_ENST00000539675.1_Intron|USP45_ENST00000392738.2_Silent_p.C268C|USP45_ENST00000500704.2_Silent_p.C588C|USP45_ENST00000369233.2_Silent_p.C540C	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	588					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		CCTCTAAAAAACATAAATTAT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	39	38			NA	NA	6		NA											NA				99893884		2202	4300	6502	SO:0001819	synonymous_variant			AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552	85015	85015		Ubiquitin-specific peptidases	20080	protein-coding gene	gene with protein product			ubiquitin specific protease 45		NA	12838346	Standard	NM_032929	NM_001080481	NA	Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.1764T>C	6.37:g.99893884A>G		NA	B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	37	CCDS34501.1																																																																																			USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041609.2		-	ENST00000327681.6	Silent	SNP	6 : 99893884 - 99893884 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	304	67
OGFOD3	79701	broad.mit.edu	37	17	80356166	80356166	+	Silent	SNP	C	C	T	rs137991522		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80356166C>T	ENST00000313056.5	-	8	880	c.729G>A	c.(727-729)tcG>tcA	p.S243S	OGFOD3_ENST00000329197.5_Silent_p.S243S	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3			2-oxoglutarate and iron-dependent oxygenase domain containing 3	NA											NA						GGTACAGCAGCGAGGTGTAGT	0.622		NA											C	32	0.01	0.01	0.02	2184	0.01	0.9953	,	,	NA	0.0127	0.02	NA	NA	0.0162	0.8895	LOWCOV	NA	NA	0.0039	SNP								NA				0								C	,	2,4404	4.2+/-10.8	0,2,2201	50	45	47		729,729	-4.5	1	17	dbSNP_134	47	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	C17orf101	NM_024648.2,NM_175902.4	,	0,2,6501	TT,TC,CC	NA	0.0,0.0454,0.0154	,	243/320,243/332	80356166	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			BC023602	CCDS11811.1, CCDS11812.1	17q25.3	2012-10-23	2012-10-23	2012-10-23	ENSG00000181396	ENSG00000181396	79701	79701			26174	protein-coding gene	gene with protein product			chromosome 17 open reading frame 101	C17orf101	NA	12477932	Standard	NM_175902	NM_175902	NA	Approved	FLJ22222	uc002keu.2	Q6PK18		ENST00000313056.5:c.729G>A	17.37:g.80356166C>T		NA		37	CCDS11811.1																																																																																			OGFOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442895.1		-	ENST00000313056.5	Silent	SNP	17 : 80356166 - 80356166 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	316	52
HTR5A-AS1	0	broad.mit.edu	37	7	154863212	154863212	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:154863212C>T	ENST00000395731.2	-	0	55				HTR5A_ENST00000287907.2_Silent_p.A201A|HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000543018.1_5'UTR						NA											NA						CTTCCTACGCCGTGTTCTCCA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4405	2.1+/-5.4	0,1,2202	85	71	76		603	0.6	1	7		76	0,8600		0,0,4300	no	coding-synonymous	HTR5A	NM_024012.2		0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077		201/358	154863212	1,13005	2203	4300	6503	SO:0001623	5_prime_UTR_variant											NA	NA			NA							NA					NA						ENST00000395731.2:c.-199G>A	7.37:g.154863212C>T		NA		37																																																																																				HTR5A-AS1-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000322238.1		-	ENST00000395731.2	5'UTR	SNP	7 : 154863212 - 154863212 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	194	32
IP6K1	9807	broad.mit.edu	37	3	49764895	49764895	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49764895C>T	ENST00000468463.1	-	0	1265				IP6K1_ENST00000395238.1_Missense_Mutation_p.R164H|IP6K1_ENST00000321599.4_Missense_Mutation_p.R329H|IP6K1_ENST00000460540.1_Missense_Mutation_p.R164H			Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1	NA					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						GGAGTAGAAGCGGTAAGAGGC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	48	48			NA	NA	3		NA											NA				49764895		2203	4300	6503	SO:0001624	3_prime_UTR_variant			D87452	CCDS33760.1, CCDS43092.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000176095	ENSG00000176095	9807	9807			18360	protein-coding gene	gene with protein product		606991	inositol hexaphosphate kinase 1	IHPK1	NA		Standard	NM_153273	NM_001242829	NA	Approved	KIAA0263	uc003cxm.1	Q92551	OTTHUMG00000158197	ENST00000468463.1:c.*126G>A	3.37:g.49764895C>T		NA	A8K157|Q7L3I7|Q96E38	37		.	.	.	.	.	.	.	.	.	.	C	35	5.420960	0.96111	.	.	ENSG00000176095	ENST00000321599;ENST00000395238;ENST00000460540	T;T;T	0.16324	2.35;2.35;2.35	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.44052	0.1275	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.12066	-1.0562	10	0.54805	T	0.06	-24.2595	20.0953	0.97838	0.0:1.0:0.0:0.0	.	329	Q92551	IP6K1_HUMAN	H	329;164;164	ENSP00000323780:R329H;ENSP00000378659:R164H;ENSP00000420762:R164H	ENSP00000323780:R329H	R	-	2	0	IP6K1	49739899	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.818000	0.86416	2.767000	0.95098	0.655000	0.94253	CGC	IP6K1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000350381.1		-	ENST00000468463.1	3'UTR	SNP	3 : 49764895 - 49764895 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	274	60
TJP2	9414	broad.mit.edu	37	9	71831325	71831325	+	Missense_Mutation	SNP	C	C	T	rs138241615	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71831325C>T	ENST00000377245.4	+	3	393	c.185C>T	c.(184-186)aCg>aTg	p.T62M	TJP2_ENST00000265384.7_Missense_Mutation_p.T62M|TJP2_ENST00000348208.4_Missense_Mutation_p.T62M|TJP2_ENST00000453658.2_Missense_Mutation_p.T39M|TJP2_ENST00000535702.1_Missense_Mutation_p.T66M|TJP2_ENST00000539225.1_Missense_Mutation_p.T93M|TJP2_ENST00000377259.1_Missense_Mutation_p.T39M	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	62	PDZ 1.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						AATGGAGAAACGTCAATTGTC	0.512		NA											C	4	0.0018	0.002	NA	2184	NA	0.9991	,	,	NA	4e-04	0.004	NA	NA	0.0019	0.8648	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0								C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	102	91	95		116,197,278,185,185,185	5.6	0.1	9	dbSNP_134	95	24,8576	17.3+/-56.4	0,24,4276	yes	missense,missense,missense,missense,missense,missense	TJP2	NM_001170414.1,NM_001170415.1,NM_001170416.1,NM_001170630.1,NM_004817.3,NM_201629.3	81,81,81,81,81,81	0,25,6478	TT,TC,CC	NA	0.2791,0.0227,0.1922	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	39/1021,66/1158,93/1222,62/994,62/1191,62/1044	71831325	25,12981	2203	4300	6503	SO:0001583	missense			L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139	9414	9414			11828	protein-coding gene	gene with protein product	Friedreich ataxia region gene X104 (tight junction protein ZO-2), zona occludens 2	607709	deafness, autosomal dominant 51	DFNA51	NA	7951235, 20602916	Standard	NM_201629	NM_001170630	NA	Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.185C>T	9.37:g.71831325C>T	ENSP00000366453:p.Thr62Met	NA	A2A3H9|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	37	CCDS6627.1	4	0.0018315018315018315	1	0.0020325203252032522	0	0.0	0	0.0	3	0.00395778364116095	C	23.5	4.421998	0.83559	2.27E-4	0.002791	ENSG00000119139	ENST00000453658;ENST00000377259;ENST00000423935;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64	5.63	5.63	0.86233	PDZ/DHR/GLGF (4);	0.095459	0.64402	D	0.000001	T	0.43456	0.1248	N	0.21142	0.635	0.52099	D	0.999947	D;D;P;D;P	0.89917	1.0;0.959;0.744;0.967;0.859	D;P;B;P;B	0.66351	0.943;0.639;0.129;0.754;0.259	T	0.33828	-0.9853	10	0.56958	D	0.05	.	20.0401	0.97581	0.0:1.0:0.0:0.0	.	93;66;62;62;62	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	M	39;39;39;62;62;62;66;93	ENSP00000392178:T39M;ENSP00000366469:T39M;ENSP00000402941:T39M;ENSP00000366453:T62M;ENSP00000345893:T62M;ENSP00000265384:T62M;ENSP00000442090:T66M;ENSP00000438262:T93M	ENSP00000265384:T62M	T	+	2	0	TJP2	71021145	1.000000	0.71417	0.121000	0.21740	0.327000	0.28475	4.637000	0.61346	2.805000	0.96524	0.655000	0.94253	ACG	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052572.2		+	ENST00000377245.4	Missense_Mutation	SNP	9 : 71831325 - 71831325 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	346	44
SESN3	143686	broad.mit.edu	37	11	94908712	94908712	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94908712T>C	ENST00000278499.2	-	8	1465	c.925A>G	c.(925-927)Aca>Gca	p.T309A	RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000536441.1_Missense_Mutation_p.T448A|RP11-712B9.2_ENST00000534864.1_RNA			P58005	SESN3_HUMAN	sestrin 3	448					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		ATGCGTTTTGTAGTTCTCTCA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	155	159			NA	NA	11		NA											NA				94908712		2201	4298	6499	SO:0001583	missense			AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212	143686	143686			23060	protein-coding gene	gene with protein product		607768			NA	12607115	Standard	NM_144665	NM_144665	NA	Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000278499.2:c.925A>G	11.37:g.94908712T>C	ENSP00000278499:p.Thr309Ala	NA	Q96AD1	37		.	.	.	.	.	.	.	.	.	.	T	14.45	2.539931	0.45176	.	.	ENSG00000149212	ENST00000536441;ENST00000278499	T;T	0.30981	1.51;1.51	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.61974	0.2390	M	0.89095	3.005	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.80764	0.992;0.994	T	0.70219	-0.4932	10	0.72032	D	0.01	0.0717	15.2678	0.73675	0.0:0.0:0.0:1.0	.	309;448	B7Z7P9;P58005	.;SESN3_HUMAN	A	448;309	ENSP00000441927:T448A;ENSP00000278499:T309A	ENSP00000278499:T309A	T	-	1	0	SESN3	94548360	1.000000	0.71417	0.950000	0.38849	0.184000	0.23303	7.365000	0.79537	2.192000	0.70111	0.528000	0.53228	ACA	SESN3-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000396479.1		-	ENST00000278499.2	Missense_Mutation	SNP	11 : 94908712 - 94908712 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	449	75
ITGA1	3672	broad.mit.edu	37	5	52240794	52240794	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52240794C>A	ENST00000282588.6	+	27	3765	c.3307C>A	c.(3307-3309)Ctt>Att	p.L1103I	CTD-2175A23.1_ENST00000503559.1_RNA|CTD-2175A23.1_ENST00000505701.1_RNA	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	1103					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CAGCTTAAATCTTACTATAAG	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	114	109			NA	NA	5		NA											NA				52240794		2203	4299	6502	SO:0001583	missense			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949	3672	3672		CD molecules, Integrins	6134	protein-coding gene	gene with protein product		192968			NA	8428973, 11937138	Standard	NM_181501	NM_181501	NA	Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.3307C>A	5.37:g.52240794C>A	ENSP00000282588:p.Leu1103Ile	NA	B2RNU0	37	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966775	0.53507	.	.	ENSG00000213949	ENST00000282588	T	0.50277	0.75	5.63	5.63	0.86233	.	0.058135	0.64402	D	0.000001	T	0.41581	0.1165	L	0.41079	1.255	0.41696	D	0.989375	P	0.48911	0.917	P	0.44447	0.45	T	0.14643	-1.0465	10	0.27082	T	0.32	.	12.5106	0.56003	0.1665:0.8335:0.0:0.0	.	1103	P56199	ITA1_HUMAN	I	1103	ENSP00000282588:L1103I	ENSP00000282588:L1103I	L	+	1	0	ITGA1	52276551	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.958000	0.40402	2.797000	0.96272	0.655000	0.94253	CTT	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253855.3		+	ENST00000282588.6	Missense_Mutation	SNP	5 : 52240794 - 52240794 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	613	115
H2AFZ	3015	broad.mit.edu	37	4	100870530	100870530	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100870530C>T	ENST00000296417.5	-	3	312	c.95G>A	c.(94-96)cGt>cAt	p.R32H	H2AFZ_ENST00000529158.1_5'UTR	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	32					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		TCGATGAATACGGCCCACTGG	0.498		NA									OREG0016271	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	57	57			NA	NA	4		NA											NA				100870530		2203	4300	6503	SO:0001583	missense			X52317	CCDS3654.1	4q23	2011-01-27			ENSG00000164032	ENSG00000164032	3015	3015		Histones / Replication-independent	4741	protein-coding gene	gene with protein product		142763		H2AZ	NA	1697587	Standard	NM_002106	XM_005262971	NA	Approved	H2A.Z	uc003hvo.1	P0C0S5	OTTHUMG00000131048	ENST00000296417.5:c.95G>A	4.37:g.100870530C>T	ENSP00000296417:p.Arg32His	1354	B2RD56|P17317|Q6I9U0	37	CCDS3654.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369968	0.61624	.	.	ENSG00000164032	ENST00000296417	D	0.85258	-1.96	3.62	3.62	0.41486	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.85682	D	0.000000	D	0.89181	0.6642	H	0.96111	3.77	0.80722	D	1	B	0.27450	0.179	B	0.13407	0.009	D	0.90583	0.4531	10	0.62326	D	0.03	-3.3569	15.4655	0.75397	0.0:1.0:0.0:0.0	.	32	P0C0S5	H2AZ_HUMAN	H	32	ENSP00000296417:R32H	ENSP00000296417:R32H	R	-	2	0	H2AFZ	101089553	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.107000	0.64603	1.853000	0.53794	0.555000	0.69702	CGT	H2AFZ-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253695.1		-	ENST00000296417.5	Missense_Mutation	SNP	4 : 100870530 - 100870530 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	232	34
TAAR5	9038	broad.mit.edu	37	6	132909876	132909876	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132909876T>G	ENST00000258034.2	-	1	1001	c.950A>C	c.(949-951)aAa>aCa	p.K317T		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	317					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		CAGTGTGAGTTTCAGTGCCTT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	101	103			NA	NA	6		NA											NA				132909876		2203	4300	6503	SO:0001583	missense			AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569	9038	9038		GPCR / Class A : Trace amine associated receptors	30236	protein-coding gene	gene with protein product		607405			NA	9464258, 15718104	Standard	NM_003967	NM_003967	NA	Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.950A>C	6.37:g.132909876T>G	ENSP00000258034:p.Lys317Thr	NA	Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	37	CCDS5156.1	.	.	.	.	.	.	.	.	.	.	T	11.52	1.661767	0.29515	.	.	ENSG00000135569	ENST00000258034	T	0.42131	0.98	5.47	3.01	0.34805	.	0.075082	0.52532	D	0.000079	T	0.56863	0.2014	M	0.88512	2.96	0.38733	D	0.953723	D	0.71674	0.998	D	0.69479	0.964	T	0.66126	-0.6001	10	0.87932	D	0	-5.2115	11.3667	0.49677	0.0:0.0:0.2901:0.7099	.	317	O14804	TAAR5_HUMAN	T	317	ENSP00000258034:K317T	ENSP00000258034:K317T	K	-	2	0	TAAR5	132951569	0.001000	0.12720	0.981000	0.43875	0.025000	0.11179	0.066000	0.14489	0.472000	0.27344	0.533000	0.62120	AAA	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042257.1		-	ENST00000258034.2	Missense_Mutation	SNP	6 : 132909876 - 132909876 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	325	76
NMRK2	27231	broad.mit.edu	37	19	3942256	3942256	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3942256G>A	ENST00000168977.2	+	8	968	c.678G>A	c.(676-678)caG>caA	p.Q226Q	NMRK2_ENST00000593949.1_Silent_p.Q231Q|NMRK2_ENST00000599576.1_3'UTR	NM_170678.2	NP_733778.1			nicotinamide riboside kinase 2	NA											NA						CAGCGTCCCAGCAGGACAGCA	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	18	18			NA	NA	19		NA											NA				3942256		2198	4297	6495	SO:0001819	synonymous_variant			AF190819	CCDS12115.1, CCDS74259.1	19p13.3	2013-10-28	2012-05-31	2012-05-31	ENSG00000077009	ENSG00000077009	27231	27231			17871	protein-coding gene	gene with protein product	muscle-specific beta 1 integrin binding protein, nicotinamide riboside kinase 2	608705	integrin beta 1 binding protein 3	ITGB1BP3	NA	10613898, 15137942	Standard	NM_014446, NM_170678	NM_170678	NA	Approved	MIBP, NRK2	uc002lyz.4	Q9NPI5	OTTHUMG00000181758	ENST00000168977.2:c.678G>A	19.37:g.3942256G>A		NA		37	CCDS12115.1																																																																																			NMRK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457492.1		+	ENST00000168977.2	Silent	SNP	19 : 3942256 - 3942256 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	111	12
CEP97	79598	broad.mit.edu	37	3	101476949	101476949	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101476949G>A	ENST00000494050.1	+	9	1344	c.1322G>A	c.(1321-1323)aGt>aAt	p.S441N	CEP97_ENST00000341893.3_Missense_Mutation_p.S500N|CEP97_ENST00000327230.4_Missense_Mutation_p.S500N	NM_024548.2	NP_078824.2	Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	500	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GATAACCACAGTCTTACATTT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	118	116			NA	NA	3		NA											NA				101476949		2203	4300	6503	SO:0001583	missense			AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504	79598	79598			26244	protein-coding gene	gene with protein product		615864	leucine-rich repeats and IQ motif containing 2	LRRIQ2	NA	17719545, 18068367	Standard	NM_024548	NM_024548	NA	Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000494050.1:c.1322G>A	3.37:g.101476949G>A	ENSP00000418185:p.Ser441Asn	NA	B5MDY8|Q8NA71|Q9H5T9	37		.	.	.	.	.	.	.	.	.	.	G	8.850	0.944259	0.18356	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.56103	0.62;0.58;0.48	4.85	0.626	0.17670	.	0.866657	0.10574	N	0.658817	T	0.33789	0.0875	L	0.32530	0.975	0.09310	N	1	B;B;B	0.15719	0.014;0.005;0.001	B;B;B	0.17979	0.02;0.007;0.003	T	0.22417	-1.0217	10	0.27082	T	0.32	-2.515	1.1628	0.01809	0.4022:0.1579:0.2951:0.1448	.	441;500;500	E9PG22;Q8IW35-2;Q8IW35	.;.;CEP97_HUMAN	N	500;500;441	ENSP00000342510:S500N;ENSP00000325881:S500N;ENSP00000418185:S441N	ENSP00000325881:S500N	S	+	2	0	CEP97	102959639	0.000000	0.05858	0.334000	0.25495	0.709000	0.40893	-0.022000	0.12480	0.212000	0.20703	0.305000	0.20034	AGT	CEP97-003	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000353632.1		+	ENST00000494050.1	Missense_Mutation	SNP	3 : 101476949 - 101476949 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	569	19
AGBL5	60509	broad.mit.edu	37	2	27282095	27282095	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27282095C>T	ENST00000360131.4	+	11	2071	c.1912C>T	c.(1912-1914)Cgg>Tgg	p.R638W	AGBL5_ENST00000323064.8_Missense_Mutation_p.R638W	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	638					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTTGAGTCGGGCACGAAG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	87	84			NA	NA	2		NA											NA				27282095		2203	4300	6503	SO:0001583	missense			BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693	60509	60509			26147	protein-coding gene	gene with protein product	cytosolic carboxypeptidase 5	615900			NA	24022482	Standard	NM_021831	NM_001035507	NA	Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.1912C>T	2.37:g.27282095C>T	ENSP00000353249:p.Arg638Trp	NA	A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	37	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002345	0.74932	.	.	ENSG00000084693	ENST00000323064;ENST00000360131	T;T	0.18657	2.3;2.2	5.76	4.89	0.63831	.	0.110266	0.64402	D	0.000005	T	0.39009	0.1062	L	0.53249	1.67	0.50467	D	0.999879	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.19160	-1.0314	10	0.87932	D	0	-29.0721	9.6109	0.39663	0.14:0.7885:0.0:0.0715	.	638;638	Q8NDL9;Q8NDL9-3	CBPC5_HUMAN;.	W	638	ENSP00000323681:R638W;ENSP00000353249:R638W	ENSP00000323681:R638W	R	+	1	2	AGBL5	27135599	1.000000	0.71417	0.987000	0.45799	0.981000	0.71138	1.550000	0.36223	1.436000	0.47453	0.655000	0.94253	CGG	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000309033.1		+	ENST00000360131.4	Missense_Mutation	SNP	2 : 27282095 - 27282095 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1000	179
LRRC37B	114659	broad.mit.edu	37	17	30362622	30362622	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30362622A>C	ENST00000543378.2	+	10	2176	c.1841A>C	c.(1840-1842)aAg>aCg	p.K614T	LRRC37B_ENST00000394713.3_Missense_Mutation_p.K645T|LRRC37B_ENST00000341671.7_Missense_Mutation_p.K696T|LRRC37B_ENST00000327564.7_Missense_Mutation_p.K723T|LRRC37B_ENST00000584368.1_Missense_Mutation_p.K657T			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	696						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ACAACACTTAAGAACATTCTC	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													187	177	180			NA	NA	17		NA											NA				30362622		2203	4299	6502	SO:0001583	missense			AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158	114659	114659			29070	protein-coding gene	gene with protein product	KIAA0563-related				NA	11468690, 10843809	Standard	NM_052888	NM_052888	NA	Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000543378.2:c.1841A>C	17.37:g.30362622A>C	ENSP00000443345:p.Lys614Thr	NA	Q5YKG6	37		.	.	.	.	.	.	.	.	.	.	a	13.02	2.110991	0.37242	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	T;T;T;T	0.52295	0.67;0.67;0.84;0.67	2.72	2.72	0.32119	.	.	.	.	.	T	0.33206	0.0855	L	0.33485	1.01	0.09310	N	1	P;B	0.35174	0.488;0.208	B;B	0.32211	0.142;0.016	T	0.19063	-1.0317	9	0.52906	T	0.07	.	7.2683	0.26242	1.0:0.0:0.0:0.0	.	645;696	Q17RC9;Q96QE4	.;LR37B_HUMAN	T	614;723;645;696	ENSP00000443345:K614T;ENSP00000332536:K723T;ENSP00000378202:K645T;ENSP00000340519:K696T	ENSP00000332536:K723T	K	+	2	0	LRRC37B	27386735	0.971000	0.33674	0.038000	0.18304	0.005000	0.04900	1.316000	0.33620	1.474000	0.48178	0.450000	0.29827	AAG	LRRC37B-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000446503.1		+	ENST00000543378.2	Missense_Mutation	SNP	17 : 30362622 - 30362622 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1061	217
GAB4	128954	broad.mit.edu	37	22	17447087	17447087	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17447087G>A	ENST00000400588.1	-	6	1298	c.1191C>T	c.(1189-1191)ggC>ggT	p.G397G		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	397										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TGAGTGGGGAGCCAAGCAGGT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	82	80			NA	NA	22		NA											NA				17447087		2039	4215	6254	SO:0001819	synonymous_variant			AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568	128954	128954		Pleckstrin homology (PH) domain containing	18325	protein-coding gene	gene with protein product					NA		Standard	XM_372882	NM_001037814	NA	Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.1191C>T	22.37:g.17447087G>A		NA		37	CCDS42976.1																																																																																			GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000315426.1		-	ENST00000400588.1	Silent	SNP	22 : 17447087 - 17447087 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	434	84
PCDHGC4	56098	broad.mit.edu	37	5	140867053	140867053	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140867053C>A	ENST00000306593.1	+	1	2313	c.2313C>A	c.(2311-2313)ggC>ggA	p.G771G	PCDHGA12_ENST00000252085.3_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1			protocadherin gamma subfamily C, 4	NA										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCTCATGGCTGTACACCCT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	74	78			NA	NA	5		NA											NA				140867053		2203	4300	6503	SO:0001819	synonymous_variant			AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419	56098	56098		Cadherins / Protocadherins : Clustered	8717	other	protocadherin		606305			NA	10380929	Standard	NM_018928	NM_018928	NA	Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.2313C>A	5.37:g.140867053C>A		NA		37	CCDS4262.1																																																																																			PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251820.1		+	ENST00000306593.1	Silent	SNP	5 : 140867053 - 140867053 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	58
MSH6	2956	broad.mit.edu	37	2	48018178	48018178	+	Nonsense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48018178A>T	ENST00000234420.5	+	2	525	c.373A>T	c.(373-375)Aaa>Taa	p.K125*	MSH6_ENST00000538136.1_5'UTR|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	NA	PWWP.				determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CGAGAAAGGGAAATCAGTCCG	0.478		NA	Mis, N, F, S		colorectal	colorectal, endometrial, ovarian		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											121	117	118			NA	NA	2		NA											NA				48018178		2203	4300	6503	SO:0001587	stop_gained	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062	2956	2956			7329	protein-coding gene	gene with protein product		600678	mutS (E. coli) homolog 6, mutS homolog 6 (E. coli)	GTBP	NA	7604266	Standard	NM_000179	NM_000179	NA	Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.373A>T	2.37:g.48018178A>T	ENSP00000234420:p.Lys125*	NA	O43706|O43917|Q8TCX4|Q9BTB5	37	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	A	32	5.165162	0.94768	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000446255;ENST00000455383;ENST00000420813;ENST00000411819	.	.	.	5.77	5.77	0.91146	.	0.170355	0.51477	D	0.000100	.	.	.	.	.	.	0.47009	D	0.999281	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.9904	16.0985	0.81148	1.0:0.0:0.0:0.0	.	.	.	.	X	125;123;125;26;26;26	.	ENSP00000234420:K125X	K	+	1	0	MSH6	47871682	1.000000	0.71417	0.979000	0.43373	0.985000	0.73830	6.657000	0.74402	2.197000	0.70478	0.455000	0.32223	AAA	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251180.4		+	ENST00000234420.5	Nonsense_Mutation	SNP	2 : 48018178 - 48018178 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	585	164
TMEM213	155006	broad.mit.edu	37	7	138522642	138522642	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138522642C>T	ENST00000413208.1	+	3	276	c.183C>T	c.(181-183)ggC>ggT	p.G61G	KIAA1549_ENST00000242365.4_3'UTR|KIAA1549_ENST00000440172.1_3'UTR|KIAA1549_ENST00000422774.1_3'UTR			A2RRL7	TM213_HUMAN	transmembrane protein 213	0						integral to membrane				breast(1)|endometrium(3)|kidney(1)|lung(1)	6						ATCTGCGAGGCGAGGCCGATC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	37	36			NA	NA	7		NA											NA				138522642		1960	4141	6101	SO:0001819	synonymous_variant				CCDS47722.1	7q34	2008-08-08			ENSG00000214128	ENSG00000214128	155006	155006			27220	protein-coding gene	gene with protein product					NA		Standard	NM_001085429	NM_001085429	NA	Approved		uc010lna.3	A2RRL7	OTTHUMG00000157182	ENST00000413208.1:c.183C>T	7.37:g.138522642C>T		NA	A4D1R3|C9JH49|C9JX41|C9K0P0	37																																																																																				TMEM213-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000347803.1		+	ENST00000413208.1	Silent	SNP	7 : 138522642 - 138522642 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	116	17
TTC3	7267	broad.mit.edu	37	21	38537998	38537998	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38537998G>A	ENST00000399017.2	+	33	6229	c.3482G>A	c.(3481-3483)cGt>cAt	p.R1161H	TTC3_ENST00000354749.2_Missense_Mutation_p.R1161H|TTC3_ENST00000355666.1_Missense_Mutation_p.R1161H|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1161					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GGATGCCCTCGTTTTGTTGTG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(38;194 1649 35661)							NA				0													161	176	171			NA	NA	21		NA											NA				38537998		2203	4300	6503	SO:0001583	missense			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670	7267	7267		RING-type (C3HC4) zinc fingers, Tetratricopeptide (TTC) repeat domain containing	12393	protein-coding gene	gene with protein product		602259			NA	8947847	Standard		NM_003316	NA	Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.3482G>A	21.37:g.38537998G>A	ENSP00000381981:p.Arg1161His	NA	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	37	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.472211	0.63737	.	.	ENSG00000182670	ENST00000418766;ENST00000438055;ENST00000355666;ENST00000399017;ENST00000354749	T;T;T;T;T	0.14766	2.48;2.48;2.79;2.79;2.79	4.75	4.75	0.60458	.	0.097011	0.45867	D	0.000333	T	0.36026	0.0952	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.926	T	0.13282	-1.0515	10	0.87932	D	0	-11.0241	16.2538	0.82501	0.0:0.0:1.0:0.0	.	219;1161	Q5GIT6;P53804	.;TTC3_HUMAN	H	1161;1143;1161;1161;1161	ENSP00000403943:R1161H;ENSP00000391891:R1143H;ENSP00000347889:R1161H;ENSP00000381981:R1161H;ENSP00000346791:R1161H	ENSP00000346791:R1161H	R	+	2	0	TTC3	37459868	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.674000	0.46867	2.352000	0.79861	0.591000	0.81541	CGT	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000194776.1		+	ENST00000399017.2	Missense_Mutation	SNP	21 : 38537998 - 38537998 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1247	115
TREX1	11277	broad.mit.edu	37	3	48508597	48508597	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48508597C>T	ENST00000296443.9	+	3	1430	c.543C>T	c.(541-543)agC>agT	p.S181S	TREX1_ENST00000444177.1_Silent_p.S171S|TREX1_ENST00000433541.1_Silent_p.S42S|TREX1_ENST00000422277.2_Silent_p.S236S|TREX1_ENST00000436480.2_Silent_p.S181S|TREX1_ENST00000456089.1_Silent_p.S42S|TREX1_ENST00000492235.1_3'UTR			Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	236					cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCCTAGGCAGCATCTACACTC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	62	61			NA	NA	3		NA											NA				48508597		2203	4300	6503	SO:0001819	synonymous_variant			AF151105	CCDS2769.1, CCDS59451.1	3p21.31	2014-09-17			ENSG00000213689	ENSG00000213689	11277	11277			12269	protein-coding gene	gene with protein product		606609	Aicardi-Goutieres syndrome 1	AGS1	NA	10391904, 10393201, 16845398	Standard	NM_016381	NM_033629	NA	Approved	DRN3	uc010hka.4	Q9NSU2	OTTHUMG00000156205	ENST00000296443.9:c.543C>T	3.37:g.48508597C>T		NA	B2RCN9|Q8TEU2|Q9BPW1|Q9Y4X2	37	CCDS2769.1																																																																																			TREX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344699.1		+	ENST00000296443.9	Silent	SNP	3 : 48508597 - 48508597 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	54
LZTS2	84445	broad.mit.edu	37	10	102766458	102766458	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102766458C>T	ENST00000370220.1	+	4	4606	c.1543C>T	c.(1543-1545)Cga>Tga	p.R515*	LZTS2_ENST00000370223.3_Nonsense_Mutation_p.R515*			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	515	Sufficient for interaction with CTNNB1.|Sufficient for interaction with KATNB1 and for inhibition of katanin-mediated microtubule severing (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GGAGCTGCAGCGACACCGCCA	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(8;38 437 13604 19902 37640)							NA				0													10	13	12			NA	NA	10		NA											NA				102766458		2190	4287	6477	SO:0001587	stop_gained			AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816	84445	84445			29381	protein-coding gene	gene with protein product		610454			NA	11347906, 11709705	Standard	XM_046743	NM_032429	NA	Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.1543C>T	10.37:g.102766458C>T	ENSP00000359240:p.Arg515*	NA	B1AL14|D3DR72|Q8N3I0|Q96J79|Q96JL2	37	CCDS7507.1	.	.	.	.	.	.	.	.	.	.	C	57	28.821900	0.99974	.	.	ENSG00000107816	ENST00000370223;ENST00000315797;ENST00000370220	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.9984	14.1048	0.65080	0.151:0.849:0.0:0.0	.	.	.	.	X	515	.	ENSP00000314437:R515X	R	+	1	2	LZTS2	102756448	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.653000	0.46691	2.677000	0.91161	0.561000	0.74099	CGA	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049872.1		+	ENST00000370220.1	Nonsense_Mutation	SNP	10 : 102766458 - 102766458 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	130	27
NCF2	4688	broad.mit.edu	37	1	183546760	183546760	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183546760G>T	ENST00000367535.3	-	3	591	c.340C>A	c.(340-342)Ctc>Atc	p.L114I	NCF2_ENST00000367536.1_Missense_Mutation_p.L114I|NCF2_ENST00000418089.1_Missense_Mutation_p.L114I|NCF2_ENST00000413720.1_Missense_Mutation_p.L114I	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	114					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						TTGAACTGGAGCCCCAGGATC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	103	104			NA	NA	1		NA											NA				183546760		2203	4300	6503	SO:0001583	missense			BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701	4688	4688		Tetratricopeptide (TTC) repeat domain containing	7661	protein-coding gene	gene with protein product	NADPH oxidase activator 2, chronic granulomatous disease, autosomal 2	608515	neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)		NA		Standard	NM_000433	NM_000433	NA	Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.340C>A	1.37:g.183546760G>T	ENSP00000356505:p.Leu114Ile	NA	B2R6Q1|Q2PP06|Q8NFC7|Q9BV51	37	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199653	0.79015	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535	T;T;T;T	0.69040	-0.24;-0.27;-0.37;-0.24	5.56	4.64	0.57946	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.80076	0.4557	M	0.86028	2.79	0.22280	N	0.999237	P;P;P	0.49635	0.925;0.926;0.661	P;P;P	0.57620	0.824;0.471;0.717	T	0.74386	-0.3682	10	0.72032	D	0.01	-8.1757	12.9702	0.58508	0.0:0.0:0.8375:0.1625	.	114;114;114	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	I	114;142;114;114;114	ENSP00000356506:L114I;ENSP00000399294:L114I;ENSP00000407217:L114I;ENSP00000356505:L114I	ENSP00000356505:L114I	L	-	1	0	NCF2	181813383	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.967000	0.76079	1.320000	0.45209	0.655000	0.94253	CTC	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085483.1		-	ENST00000367535.3	Missense_Mutation	SNP	1 : 183546760 - 183546760 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	498	81
EPG5	57724	broad.mit.edu	37	18	43450702	43450702	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43450702G>A	ENST00000282041.5	-	36	6089	c.6055C>T	c.(6055-6057)Ctg>Ttg	p.L2019L	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2019					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CCTGGCAACAGCTTATCTAGA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	66	67			NA	NA	18		NA											NA				43450702		1890	4105	5995	SO:0001819	synonymous_variant			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223	57724	57724			29331	protein-coding gene	gene with protein product		615068	KIAA1632	KIAA1632	NA	10997877, 20550938	Standard	NM_020964	XM_005258323	NA	Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.6055C>T	18.37:g.43450702G>A		NA	A2BDF3|Q9H8C8	37	CCDS11926.2																																																																																			EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445081.1		-	ENST00000282041.5	Silent	SNP	18 : 43450702 - 43450702 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	242	43
ADAMTS16	170690	broad.mit.edu	37	5	5239367	5239367	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5239367C>T	ENST00000274181.7	+	15	2396	c.2258C>T	c.(2257-2259)aCc>aTc	p.T753I		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	753	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGTCTCTACACCAAGCACCAC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	171	171			NA	NA	5		NA											NA				5239367		2063	4214	6277	SO:0001583	missense			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536	170690	170690		ADAM metallopeptidases with thrombospondin type 1 motif	17108	protein-coding gene	gene with protein product		607510	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16		NA	11867212	Standard	NM_139056	NM_139056	NA	Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2258C>T	5.37:g.5239367C>T	ENSP00000274181:p.Thr753Ile	NA	C6G490|Q8IVE2	37	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612653	0.28712	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.54279	0.58	5.85	4.01	0.46588	ADAM-TS Spacer 1 (1);	0.278678	0.32624	N	0.005843	T	0.56630	0.1998	M	0.73962	2.25	0.19300	N	0.99998	B;B	0.32653	0.379;0.257	B;B	0.35813	0.197;0.211	T	0.53308	-0.8457	10	0.52906	T	0.07	.	15.354	0.74412	0.0:0.7418:0.2582:0.0	.	753;753	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	I	753	ENSP00000274181:T753I	ENSP00000274181:T753I	T	+	2	0	ADAMTS16	5292367	0.959000	0.32827	0.001000	0.08648	0.356000	0.29392	1.085000	0.30840	0.754000	0.32968	0.655000	0.94253	ACC	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365657.1		+	ENST00000274181.7	Missense_Mutation	SNP	5 : 5239367 - 5239367 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	659	151
EIF4B	1975	broad.mit.edu	37	12	53427635	53427635	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53427635C>A	ENST00000420463.3	+	9	1053	c.1025C>A	c.(1024-1026)cCt>cAt	p.P342H	RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000262056.9_Missense_Mutation_p.P342H|EIF4B_ENST00000416762.3_Missense_Mutation_p.P303H			P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	342					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CGGAGTACTCCTAAGGAAGAT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	62	64			NA	NA	12		NA											NA				53427635		1807	4076	5883	SO:0001583	missense			X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046	1975	1975		RNA binding motif (RRM) containing	3285	protein-coding gene	gene with protein product		603928			NA		Standard	NM_001417	XM_005268709	NA	Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000420463.3:c.1025C>A	12.37:g.53427635C>A	ENSP00000388806:p.Pro342His	NA	Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	37		.	.	.	.	.	.	.	.	.	.	C	23.2	4.391431	0.83011	.	.	ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000430205;ENST00000416762;ENST00000549481	D;T;T	0.94184	-3.37;0.58;0.57	4.76	4.76	0.60689	.	0.175924	0.49916	D	0.000137	D	0.96414	0.8830	M	0.75615	2.305	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.986;0.994;0.99	D	0.96833	0.9612	10	0.87932	D	0	.	17.2267	0.86972	0.0:1.0:0.0:0.0	.	303;342;318;342	B4DS13;E7EX17;E7EPC9;P23588	.;.;.;IF4B_HUMAN	H	342;342;318;303;297	ENSP00000262056:P342H;ENSP00000388806:P342H;ENSP00000449746:P297H	ENSP00000262056:P342H	P	+	2	0	EIF4B	51713902	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.950000	0.75977	2.595000	0.87683	0.460000	0.39030	CCT	EIF4B-007	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000404914.1		+	ENST00000420463.3	Missense_Mutation	SNP	12 : 53427635 - 53427635 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	267	60
MAP1LC3B2	643246	broad.mit.edu	37	12	117013978	117013978	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117013978G>A	ENST00000556529.1	+	1	323	c.231G>A	c.(229-231)caG>caA	p.Q77Q	MAP1LC3B2_ENST00000306985.4_Silent_p.Q77Q			A6NCE7	MP3B2_HUMAN	microtubule-associated protein 1 light chain 3 beta 2	77					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule				breast(1)|large_intestine(2)|lung(3)	6						ATGCTAATCAGGCCTTCTTCC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	124	125			NA	NA	12		NA											NA				117013978		2203	4300	6503	SO:0001819	synonymous_variant				CCDS41841.1	12q24.22	2014-02-12			ENSG00000171471	ENSG00000171471	643246	643246			34390	protein-coding gene	gene with protein product					NA		Standard	NM_001085481	NM_001085481	NA	Approved	ATG8G	uc009zwk.1	A6NCE7		ENST00000556529.1:c.231G>A	12.37:g.117013978G>A		NA		37	CCDS41841.1																																																																																			MAP1LC3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413900.1		+	ENST00000556529.1	Silent	SNP	12 : 117013978 - 117013978 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	706	125
NARG2	0	broad.mit.edu	37	15	60724161	60724161	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:60724161G>A	ENST00000261520.4	-	14	2767	c.2533C>T	c.(2533-2535)Ctc>Ttc	p.L845F	NARG2_ENST00000439632.1_Missense_Mutation_p.L708F	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN		845						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						ATGTGTTGGAGGATGTTAAAT	0.279		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	61	58			NA	NA	15		NA											NA				60724161		2199	4285	6484	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000261520.4:c.2533C>T	15.37:g.60724161G>A	ENSP00000261520:p.Leu845Phe	NA	B2RU08|Q05CT1|Q3B7W6|Q63HP4|Q658Q0|Q68CN8|Q6IPW7|Q6UX23|Q71H65|Q96CY5|Q9HAA2	37	CCDS10176.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102634	0.76983	.	.	ENSG00000128915	ENST00000261520;ENST00000439632	.	.	.	4.89	4.89	0.63831	NMDA receptor-regulated gene protein 2 (1);	0.146650	0.47455	D	0.000237	T	0.77384	0.4122	M	0.65498	2.005	0.45118	D	0.998131	D	0.89917	1.0	D	0.91635	0.999	T	0.79612	-0.1731	9	0.87932	D	0	-9.5329	15.8264	0.78709	0.0:0.0:1.0:0.0	.	845	Q659A1	NARG2_HUMAN	F	845;708	.	ENSP00000261520:L845F	L	-	1	0	NARG2	58511453	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.475000	0.45162	2.639000	0.89480	0.650000	0.86243	CTC	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256136.1		-	ENST00000261520.4	Missense_Mutation	SNP	15 : 60724161 - 60724161 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	159	20
A2M	2	broad.mit.edu	37	12	9243824	9243824	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9243824G>T	ENST00000318602.7	-	19	2749	c.2442C>A	c.(2440-2442)gtC>gtA	p.V814V		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	814					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GGTAGTTTAGGACCGTGGCCT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	108	108			NA	NA	12		NA											NA				9243824		2203	4300	6503	SO:0001819	synonymous_variant			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899	2	2			7	protein-coding gene	gene with protein product		103950			NA		Standard	NM_000014	XM_006719056	NA	Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.2442C>A	12.37:g.9243824G>T		NA	Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	37	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	G	0.126	-1.118899	0.01785	.	.	ENSG00000175899	ENST00000543436	.	.	.	5.28	-4.8	0.03190	.	.	.	.	.	T	0.38957	0.1060	.	.	.	0.47094	D	0.99931	.	.	.	.	.	.	T	0.32107	-0.9919	4	.	.	.	.	3.2875	0.06937	0.1842:0.4367:0.2049:0.1742	.	.	.	.	Y	62	.	.	S	-	2	0	A2M	9135091	0.814000	0.29104	0.001000	0.08648	0.047000	0.14425	-0.028000	0.12350	-1.604000	0.01595	-0.471000	0.05019	TCC	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317233.2		-	ENST00000318602.7	Silent	SNP	12 : 9243824 - 9243824 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	389	13
NT5DC2	64943	broad.mit.edu	37	3	52561315	52561315	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52561315G>A	ENST00000307076.4	-	10	1403	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	NT5DC2_ENST00000422318.2_Missense_Mutation_p.R372W|NT5DC2_ENST00000307092.4_Missense_Mutation_p.R276W|NT5DC2_ENST00000459839.1_Missense_Mutation_p.R347W	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	335							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		CTTACCTGCCGATAGATCTTG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	96	96			NA	NA	3		NA											NA				52561315		2203	4300	6503	SO:0001583	missense			AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268	64943	64943			25717	protein-coding gene	gene with protein product					NA	8619474, 9110174	Standard	NM_022908	NM_022908	NA	Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.1003C>T	3.37:g.52561315G>A	ENSP00000302468:p.Arg335Trp	NA	O95888|Q96C80|Q9H9Z8	37	CCDS2858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.133453|4.133453	0.77662|0.77662	.|.	.|.	ENSG00000168268|ENSG00000168268	ENST00000307092;ENST00000463947;ENST00000307076;ENST00000422318;ENST00000459839|ENST00000489316	T;T;T;T;T|.	0.23147|.	1.92;1.92;1.92;1.92;1.92|.	5.45|5.45	5.45|5.45	0.79879|0.79879	HAD-like domain (2);|.	0.052775|.	0.64402|.	D|.	0.000001|.	T|T	0.52661|0.52661	0.1748|0.1748	L|L	0.40543|0.40543	1.245|1.245	0.35708|0.35708	D|D	0.816193|0.816193	D;D;D|.	0.57899|.	0.981;0.981;0.981|.	P;B;B|.	0.56788|.	0.806;0.401;0.401|.	T|T	0.59037|0.59037	-0.7529|-0.7529	10|5	0.38643|.	T|.	0.18|.	-25.4436|-25.4436	12.4633|12.4633	0.55743|0.55743	0.0:0.0:0.7183:0.2817|0.0:0.0:0.7183:0.2817	.|.	347;335;372|.	C9JTZ6;Q9H857;E9PAL9|.	.;NT5D2_HUMAN;.|.	W|L	276;49;335;372;347|256	ENSP00000306017:R276W;ENSP00000418780:R49W;ENSP00000302468:R335W;ENSP00000406933:R372W;ENSP00000419547:R347W|.	ENSP00000302468:R335W|.	R|S	-|-	1|2	2|0	NT5DC2|NT5DC2	52536355|52536355	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.907000|0.907000	0.53573|0.53573	4.461000|4.461000	0.60115|0.60115	2.580000|2.580000	0.87095|0.87095	0.555000|0.555000	0.69702|0.69702	CGG|TCG	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351509.1		-	ENST00000307076.4	Missense_Mutation	SNP	3 : 52561315 - 52561315 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	261	37
PAPLN	89932	broad.mit.edu	37	14	73720627	73720627	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73720627C>T	ENST00000340738.5	+	11	1281	c.1179C>T	c.(1177-1179)aaC>aaT	p.N393N	PAPLN_ENST00000427855.1_Silent_p.N420N|PAPLN_ENST00000555445.1_Silent_p.N420N|PAPLN_ENST00000554301.1_Silent_p.N420N|PAPLN_ENST00000381166.3_Silent_p.N420N	NM_173462.3	NP_775733.3	O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	420	TSP type-1 3.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		AGGCCTGTAACCTGCAGCGCT	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	24	24			NA	NA	14		NA											NA				73720627		2198	4295	6493	SO:0001819	synonymous_variant			BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767	89932	89932		Immunoglobulin superfamily / I-set domain containing	19262	protein-coding gene	gene with protein product					NA	11076767, 19734141	Standard	NM_173462	NM_173462	NA	Approved	MGC50452	uc001xnw.4	O95428		ENST00000340738.5:c.1179C>T	14.37:g.73720627C>T		NA	B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	37	CCDS32114.1																																																																																			PAPLN-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413179.1		+	ENST00000340738.5	Silent	SNP	14 : 73720627 - 73720627 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	247	21
OR52H1	390067	broad.mit.edu	37	11	5566168	5566168	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5566168C>T	ENST00000322653.4	-	1	611	c.586G>A	c.(586-588)Gcc>Acc	p.A196T	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAGCACAGGCGAGCTGGGCA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	102	112			NA	NA	11		NA											NA				5566168		2201	4297	6498	SO:0001583	missense			AB065802	CCDS31386.1	11p15.4	2012-08-09			ENSG00000181616	ENSG00000181616	390067	390067		GPCR / Class A : Olfactory receptors	15218	protein-coding gene	gene with protein product					NA		Standard	NM_001005289	NM_001005289	NA	Approved		uc010qzh.2	Q8NGJ2	OTTHUMG00000066909	ENST00000322653.4:c.586G>A	11.37:g.5566168C>T	ENSP00000326259:p.Ala196Thr	NA	B9EH26|Q6IF79	37	CCDS31386.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479877	0.44044	.	.	ENSG00000181616	ENST00000322653	T	0.00193	8.58	5.37	4.37	0.52481	GPCR, rhodopsin-like superfamily (1);	0.327597	0.25978	N	0.027090	T	0.00580	0.0019	M	0.87180	2.865	0.09310	N	1	D	0.61697	0.99	P	0.60117	0.869	T	0.41016	-0.9532	10	0.87932	D	0	.	15.5505	0.76148	0.1474:0.8526:0.0:0.0	.	196	Q8NGJ2	O52H1_HUMAN	T	196	ENSP00000326259:A196T	ENSP00000326259:A196T	A	-	1	0	OR52H1	5522744	0.000000	0.05858	0.953000	0.39169	0.510000	0.34073	-0.025000	0.12413	2.511000	0.84671	0.650000	0.86243	GCC	OR52H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000143400.1		-	ENST00000322653.4	Missense_Mutation	SNP	11 : 5566168 - 5566168 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	334	55
MSANTD3	91283	broad.mit.edu	37	9	103204445	103204445	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:103204445G>T	ENST00000395067.2	+	2	496	c.225G>T	c.(223-225)gaG>gaT	p.E75D	MSANTD3_ENST00000489377.1_3'UTR|MSANTD3_ENST00000374885.1_Missense_Mutation_p.E75D	NM_001198805.1|NM_001198806.1|NM_080655.2	NP_001185734.1|NP_001185735.1|NP_542386.1			Myb/SANT-like DNA-binding domain containing 3	NA										endometrium(2)|lung(2)	4						AGTGCTGGGAGAACATCAAGG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	37	37			NA	NA	9		NA											NA				103204445		2203	4300	6503	SO:0001583	missense			BC008993	CCDS6749.1, CCDS56579.1	9q31.1	2012-03-13	2012-03-13	2012-03-13	ENSG00000066697	ENSG00000066697	91283	91283			23370	protein-coding gene	gene with protein product			chromosome 9 open reading frame 30	C9orf30	NA		Standard	NM_080655	NM_080655	NA	Approved	MGC17337		Q96H12	OTTHUMG00000020365	ENST00000395067.2:c.225G>T	9.37:g.103204445G>T	ENSP00000378506:p.Glu75Asp	NA		37	CCDS6749.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543878	0.65198	.	.	ENSG00000066697	ENST00000395067;ENST00000398977;ENST00000374885;ENST00000374886	.	.	.	5.92	3.78	0.43462	.	.	.	.	.	T	0.52869	0.1761	L	0.33710	1.025	0.36907	D	0.890696	D	0.63046	0.992	D	0.74348	0.983	T	0.55679	-0.8103	8	0.19590	T	0.45	-13.1716	4.6007	0.12352	0.4492:0.0:0.5508:0.0	.	75	Q96H12	CI030_HUMAN	D	75	.	ENSP00000364020:E75D	E	+	3	2	C9orf30	102244266	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.408000	0.34668	1.366000	0.46076	0.655000	0.94253	GAG	MSANTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053410.1		+	ENST00000395067.2	Missense_Mutation	SNP	9 : 103204445 - 103204445 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	235	21
PSD3	23362	broad.mit.edu	37	8	18725375	18725375	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:18725375C>T	ENST00000327040.8	-	4	1545	c.1443G>A	c.(1441-1443)atG>atA	p.M481I	PSD3_ENST00000440756.2_Missense_Mutation_p.M481I|PSD3_ENST00000523619.1_Missense_Mutation_p.M416I	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	481					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GCTGTTGTATCATTGGAGTGA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													201	195	197			NA	NA	8		NA											NA				18725375		2030	4185	6215	SO:0001583	missense			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011	23362	23362		Pleckstrin homology (PH) domain containing	19093	protein-coding gene	gene with protein product		614440			NA		Standard	NM_015310	NM_206909	NA	Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.1443G>A	8.37:g.18725375C>T	ENSP00000324127:p.Met481Ile	NA	A6NFQ4|Q6B003|Q9Y2F1	37	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.416430	0.62511	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000523619	T;T;T	0.10668	2.85;2.85;2.85	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.10723	0.0262	L	0.32530	0.975	0.42160	D	0.991596	B	0.29716	0.255	B	0.27608	0.081	T	0.09684	-1.0663	10	0.45353	T	0.12	.	16.7614	0.85513	0.0:1.0:0.0:0.0	.	481	E9KL50	.	I	481;481;416	ENSP00000324127:M481I;ENSP00000401704:M481I;ENSP00000430640:M416I	ENSP00000324127:M481I	M	-	3	0	PSD3	18769655	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.289000	0.65656	2.637000	0.89404	0.585000	0.79938	ATG	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374867.1		-	ENST00000327040.8	Missense_Mutation	SNP	8 : 18725375 - 18725375 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	785	161
PDZD3	79849	broad.mit.edu	37	11	119057350	119057350	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119057350G>T	ENST00000525131.1	+	4	377	c.242G>T	c.(241-243)aGg>aTg	p.R81M	PDZD3_ENST00000392817.2_Missense_Mutation_p.R160M|PDZD3_ENST00000322712.4_Missense_Mutation_p.R94M|PDZD3_ENST00000355547.5_Missense_Mutation_p.R94M|PDZD3_ENST00000531114.1_Missense_Mutation_p.R160M			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	160					cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		GAAGGAGACAGGATCCTGGCG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	43	51			NA	NA	11		NA											NA				119057350		2200	4295	6495	SO:0001583	missense			AK091966	CCDS8417.1, CCDS53719.1	11q23.3	2008-02-05	2006-01-24	2006-01-24	ENSG00000172367	ENSG00000172367	79849	79849			19891	protein-coding gene	gene with protein product		607146	PDZ domain containing 2	PDZK2	NA	11950846	Standard	NM_024791	NM_024791	NA	Approved	FLJ22756, IKEPP	uc001pvz.3	Q86UT5	OTTHUMG00000166224	ENST00000525131.1:c.242G>T	11.37:g.119057350G>T	ENSP00000434559:p.Arg81Met	NA	Q8N6R4|Q8NAW7|Q8NEX7|Q9H5Z3	37		.	.	.	.	.	.	.	.	.	.	G	20.1	3.940897	0.73557	.	.	ENSG00000172367	ENST00000525131;ENST00000531114;ENST00000355547;ENST00000322712;ENST00000454065;ENST00000392817	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.28	0.0424	0.14217	PDZ/DHR/GLGF (4);	0.319545	0.29861	N	0.011019	T	0.51958	0.1705	M	0.89163	3.01	0.35711	D	0.816381	D;D;D;D	0.76494	0.998;0.999;0.998;0.998	D;D;D;D	0.71656	0.963;0.974;0.938;0.963	T	0.56739	-0.7929	10	0.62326	D	0.03	-3.0063	5.2049	0.15285	0.2015:0.0:0.5494:0.2491	.	81;160;94;94	E9PPZ1;Q86UT5;Q86UT5-2;B0YJ61	.;NHRF4_HUMAN;.;.	M	81;160;94;94;94;160	ENSP00000434559:R81M;ENSP00000431164:R160M;ENSP00000347742:R94M;ENSP00000327107:R94M;ENSP00000376564:R160M	ENSP00000327107:R94M	R	+	2	0	PDZD3	118562560	0.075000	0.21258	0.853000	0.33588	0.974000	0.67602	1.594000	0.36697	-0.131000	0.11578	0.655000	0.94253	AGG	PDZD3-008	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000388467.1		+	ENST00000525131.1	Missense_Mutation	SNP	11 : 119057350 - 119057350 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	224	39
TUBB1	81027	broad.mit.edu	37	20	57599572	57599572	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57599572G>A	ENST00000217133.1	+	4	1359	c.1090G>A	c.(1090-1092)Gcc>Acc	p.A364T		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	364					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GCTGAGCATGGCCGCCACCTT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	45	45			NA	NA	20		NA											NA				57599572		2203	4300	6503	SO:0001583	missense			AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162	81027	81027		Tubulins	16257	protein-coding gene	gene with protein product	class VI beta-tubulin	612901	tubulin, beta 1		NA		Standard	NM_030773	NM_030773	NA	Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.1090G>A	20.37:g.57599572G>A	ENSP00000217133:p.Ala364Thr	NA		37	CCDS13475.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098505	0.76870	.	.	ENSG00000101162	ENST00000217133	D	0.84800	-1.9	5.54	5.54	0.83059	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90331	0.6975	M	0.85710	2.77	0.54753	D	0.999988	P	0.46859	0.885	P	0.48770	0.589	D	0.91859	0.5498	10	0.87932	D	0	.	18.4559	0.90720	0.0:0.0:1.0:0.0	.	364	Q9H4B7	TBB1_HUMAN	T	364	ENSP00000217133:A364T	ENSP00000217133:A364T	A	+	1	0	TUBB1	57032967	1.000000	0.71417	0.998000	0.56505	0.837000	0.47467	2.904000	0.48719	2.614000	0.88457	0.655000	0.94253	GCC	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079903.1		+	ENST00000217133.1	Missense_Mutation	SNP	20 : 57599572 - 57599572 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	264	55
PTGER3	5733	broad.mit.edu	37	1	71512538	71512538	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:71512538C>T	ENST00000370924.4	-	1	953	c.723G>A	c.(721-723)gcG>gcA	p.A241A	PTGER3_ENST00000460330.1_Silent_p.A241A|PTGER3_ENST00000356595.4_Silent_p.A241A|PTGER3_ENST00000414819.1_Silent_p.A241A|PTGER3_ENST00000351052.5_Silent_p.A241A|PTGER3_ENST00000370931.3_Silent_p.A241A|PTGER3_ENST00000354608.5_Silent_p.A241A|PTGER3_ENST00000306666.5_Silent_p.A241A|PTGER3_ENST00000370932.2_Silent_p.A241A	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	241					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	TGACTGTCAGCGCCAAGAGCC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	92	92			NA	NA	1		NA											NA				71512538		2203	4300	6503	SO:0001819	synonymous_variant			X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628	5733	5733		GPCR / Class A : Prostanoid receptors	9595	protein-coding gene	gene with protein product		176806			NA	7759114, 9073510	Standard	NM_000957	NM_001126044	NA	Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000370924.4:c.723G>A	1.37:g.71512538C>T		NA	B0AZN4|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546	37	CCDS658.1																																																																																			PTGER3-008	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026079.3		-	ENST00000370924.4	Silent	SNP	1 : 71512538 - 71512538 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	653	61
E2F4	1874	broad.mit.edu	37	16	67229753	67229753	+	Missense_Mutation	SNP	A	A	T	rs1801013		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67229753A>T	ENST00000379378.3	+	7	936	c.877A>T	c.(877-879)Aca>Tca	p.T293S		NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	293			T -> P (in dbSNP:rs1801013).		G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		GGGCCCAACAACACTGGACAC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	71	73			NA	NA	16		NA											NA				67229753		2198	4300	6498	SO:0001583	missense			BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250	1874	1874			3118	protein-coding gene	gene with protein product		600659			NA	7958924, 7892279	Standard	NM_001950	NM_001950	NA	Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975	ENST00000379378.3:c.877A>T	16.37:g.67229753A>T	ENSP00000368686:p.Thr293Ser	NA	A6NGR8|B5BU56|Q12991|Q15328	37	CCDS32464.1	.	.	.	.	.	.	.	.	.	.	A	4.392	0.072297	0.08436	.	.	ENSG00000205250	ENST00000379378	D	0.83914	-1.78	4.64	1.54	0.23209	.	0.534717	0.13958	N	0.351005	T	0.47135	0.1429	N	0.00729	-1.24	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48647	-0.9017	10	0.05721	T	0.95	-0.1102	4.5922	0.12313	0.25:0.0:0.5966:0.1534	.	293	Q16254	E2F4_HUMAN	S	293	ENSP00000368686:T293S	ENSP00000368686:T293S	T	+	1	0	E2F4	65787254	0.005000	0.15991	0.091000	0.20842	0.420000	0.31355	1.045000	0.30341	0.182000	0.20032	-0.146000	0.13790	ACA	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421565.1		+	ENST00000379378.3	Missense_Mutation	SNP	16 : 67229753 - 67229753 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	410	57
SCAP	22937	broad.mit.edu	37	3	47459949	47459949	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47459949G>A	ENST00000265565.5	-	15	2605	c.2193C>T	c.(2191-2193)cgC>cgT	p.R731R	SCAP_ENST00000441517.2_Silent_p.R476R|SCAP_ENST00000545718.1_Silent_p.R339R	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	731	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GGCATAGCACGCGGTAGAGGC	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(149;978 1908 29304 37806 46700)							NA				0								G		2,4336		0,2,2167	10	14	12		2193	-6.2	0.6	3		12	0,8514		0,0,4257	no	coding-synonymous	SCAP	NM_012235.2		0,2,6424	AA,AG,GG	NA	0.0,0.0461,0.0156		731/1280	47459949	2,12850	2169	4257	6426	SO:0001819	synonymous_variant			BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650	22937	22937		WD repeat domain containing	30634	protein-coding gene	gene with protein product	SREBP cleavage activating protein	601510			NA	8898195, 8724849, 10570913	Standard	NM_012235	XM_005264967	NA	Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.2193C>T	3.37:g.47459949G>A		NA	Q8N2E0|Q8WUA1	37	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	G	2.570	-0.299887	0.05532	4.61E-4	0.0	ENSG00000114650	ENST00000383739	.	.	.	4.22	-6.18	0.02085	.	0.000000	0.85682	D	0.000000	T	0.52141	0.1716	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54715	-0.8252	6	0.87932	D	0	-20.461	3.3723	0.07225	0.4167:0.336:0.1566:0.0906	.	.	.	.	C	256	.	ENSP00000373245:R256C	R	-	1	0	SCAP	47434953	0.000000	0.05858	0.607000	0.28956	0.034000	0.12701	-2.562000	0.00920	-1.126000	0.02929	-0.440000	0.05779	CGT	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000246872.2		-	ENST00000265565.5	Silent	SNP	3 : 47459949 - 47459949 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	77	15
PMP22	5376	broad.mit.edu	37	17	15134314	15134314	+	Missense_Mutation	SNP	C	C	T	rs141094419	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15134314C>T	ENST00000494511.1	-	3	390	c.224G>A	c.(223-225)cGc>cAc	p.R75H	PMP22_ENST00000395938.2_Missense_Mutation_p.A135T|PMP22_ENST00000312280.3_Missense_Mutation_p.A135T|PMP22_ENST00000395936.1_3'UTR			Q01453	PMP22_HUMAN	peripheral myelin protein 22	0					peripheral nervous system development|synaptic transmission	integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		AGGATGTAGGCGAAACCGTAG	0.602		NA											C	6	0.0027	0.01	NA	2184	NA	1	,	,	NA	4e-04	NA	NA	NA	0.0027	1	EXOME	NA	NA	5e-04	SNP								NA				0								C	THR/ALA,THR/ALA,THR/ALA	36,4370	43.1+/-76.7	0,36,2167	79	70	73		403,403,403	0.6	0.2	17	dbSNP_134	73	0,8600		0,0,4300	yes	missense,missense,missense	PMP22	NM_000304.2,NM_153321.1,NM_153322.1	58,58,58	0,36,6467	TT,TC,CC	NA	0.0,0.8171,0.2768	benign,benign,benign	135/161,135/161,135/161	15134314	36,12970	2203	4300	6503	SO:0001583	missense			D11428	CCDS11168.1	17p12	2014-09-17			ENSG00000109099	ENSG00000109099	5376	5376			9118	protein-coding gene	gene with protein product		601097			NA	8482547, 1497668	Standard	NM_000304	NM_001281456	NA	Approved	HNPP, GAS-3, Sp110	uc002goj.3	Q01453	OTTHUMG00000058960	ENST00000494511.1:c.224G>A	17.37:g.15134314C>T	ENSP00000462782:p.Arg75His	NA	Q8WV01	37		6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	C	7.414	0.635436	0.14322	0.008171	0.0	ENSG00000109099	ENST00000395938;ENST00000312280	D;D	0.91068	-2.78;-2.78	5.05	0.627	0.17675	.	0.336619	0.35436	N	0.003211	D	0.82715	0.5097	M	0.72894	2.215	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.75983	-0.3125	10	0.56958	D	0.05	-27.4143	4.9521	0.14019	0.2546:0.5323:0.0:0.2132	.	135	Q01453	PMP22_HUMAN	T	135	ENSP00000379269:A135T;ENSP00000308937:A135T	ENSP00000308937:A135T	A	-	1	0	PMP22	15075039	0.083000	0.21467	0.166000	0.22797	0.230000	0.25150	0.469000	0.22067	0.015000	0.14971	-0.214000	0.12660	GCC	PMP22-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000130683.2		-	ENST00000494511.1	Missense_Mutation	SNP	17 : 15134314 - 15134314 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	432	74
ABCA12	26154	broad.mit.edu	37	2	215845305	215845305	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215845305C>T	ENST00000272895.7	-	31	4861	c.4642G>A	c.(4642-4644)Gcc>Acc	p.A1548T	ABCA12_ENST00000389661.4_Missense_Mutation_p.A1230T	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1548	ABC transporter 1.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCCAGGAAGGCGATGCGGTCA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(66;664 1488 5121 34295)							NA				0													127	115	119			NA	NA	2		NA											NA				215845305		2203	4300	6503	SO:0001583	missense			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452	26154	26154		ATP binding cassette transporters / subfamily A	14637	protein-coding gene	gene with protein product		607800	ichthyosis congenita II, lamellar ichthyosis B	ICR2B	NA	11435397, 12915478, 8845852, 10094194	Standard	NM_173076	NM_015657	NA	Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.4642G>A	2.37:g.215845305C>T	ENSP00000272895:p.Ala1548Thr	NA	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	36	5.809464	0.96975	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.76060	-0.99;-0.99	5.95	5.95	0.96441	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.64402	D	0.000001	D	0.86698	0.5995	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.86705	0.1932	10	0.87932	D	0	.	20.4024	0.99000	0.0:1.0:0.0:0.0	.	1548;1230	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	T	1548;1230	ENSP00000272895:A1548T;ENSP00000374312:A1230T	ENSP00000272895:A1548T	A	-	1	0	ABCA12	215553550	1.000000	0.71417	0.973000	0.42090	0.995000	0.86356	7.818000	0.86416	2.827000	0.97445	0.650000	0.86243	GCC	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337111.1		-	ENST00000272895.7	Missense_Mutation	SNP	2 : 215845305 - 215845305 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	22
FAP	2191	broad.mit.edu	37	2	163082066	163082066	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163082066G>A	ENST00000188790.4	-	4	419	c.212C>T	c.(211-213)tCt>tTt	p.S71F	FAP_ENST00000443424.1_Missense_Mutation_p.S71F	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	71					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						GTTATCTGCAGATTGATGAAG	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	127	126			NA	NA	2		NA											NA				163082066		2199	4298	6497	SO:0001583	missense			U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098	2191	2191			3590	protein-coding gene	gene with protein product	seprase	600403			NA	9247085, 14707457	Standard		NM_004460	NA	Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.212C>T	2.37:g.163082066G>A	ENSP00000188790:p.Ser71Phe	NA	O00199|Q53TP5|Q86Z29|Q99998|Q9UID4	37	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.074541	0.55646	.	.	ENSG00000078098	ENST00000188790;ENST00000443424;ENST00000447386	D;T	0.96104	-3.91;1.28	5.68	5.68	0.88126	.	0.496726	0.21739	N	0.069855	D	0.95529	0.8547	M	0.63428	1.95	0.33629	D	0.605844	P;P;P	0.52170	0.732;0.951;0.92	B;P;B	0.49708	0.321;0.62;0.402	D	0.98556	1.0639	10	0.72032	D	0.01	-1.1315	14.4727	0.67526	0.0:0.0:0.8538:0.1462	.	71;71;71	B4DLR2;B2RD89;Q12884	.;.;SEPR_HUMAN	F	71;71;50	ENSP00000188790:S71F;ENSP00000411391:S71F	ENSP00000188790:S71F	S	-	2	0	FAP	162790312	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.750000	0.55157	2.675000	0.91044	0.655000	0.94253	TCT	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000332852.2		-	ENST00000188790.4	Missense_Mutation	SNP	2 : 163082066 - 163082066 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	249	60
UPF3A	65110	broad.mit.edu	37	13	115070355	115070355	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:115070355C>T	ENST00000375299.3	+	10	1450	c.1394C>T	c.(1393-1395)tCg>tTg	p.S465L	UPF3A_ENST00000475218.2_3'UTR|UPF3A_ENST00000351487.5_Missense_Mutation_p.S432L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	465					mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCAGAAGGTTCGGGGACTGGT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	36	36			NA	NA	13		NA											NA				115070355		2203	4296	6499	SO:0001583	missense			AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062	65110	65110			20332	protein-coding gene	gene with protein product		605530			NA	11113196, 11163187	Standard		NM_023011	NA	Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.1394C>T	13.37:g.115070355C>T	ENSP00000364448:p.Ser465Leu	NA	A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	37	CCDS9543.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.802184	0.31869	.	.	ENSG00000169062	ENST00000375299;ENST00000351487;ENST00000543577	T;T	0.77620	-1.11;-1.11	3.47	2.56	0.30785	.	2.138080	0.03144	N	0.166950	T	0.68366	0.2993	L	0.38175	1.15	0.09310	N	1	B;B	0.26081	0.059;0.141	B;B	0.17098	0.011;0.017	T	0.51164	-0.8740	9	.	.	.	.	6.2334	0.20750	0.1828:0.7158:0.0:0.1015	.	432;465	Q9H1J1-2;Q9H1J1	.;REN3A_HUMAN	L	465;432;197	ENSP00000364448:S465L;ENSP00000329592:S432L	.	S	+	2	0	UPF3A	114088457	0.004000	0.15560	0.001000	0.08648	0.066000	0.16364	0.321000	0.19558	0.707000	0.31934	0.563000	0.77884	TCG	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045968.2		+	ENST00000375299.3	Missense_Mutation	SNP	13 : 115070355 - 115070355 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	49
MAP2K7	5609	broad.mit.edu	37	19	7974947	7974947	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7974947G>A	ENST00000397981.3	+	3	368		c.e3-1		MAP2K7_ENST00000397983.3_Splice_Site|MAP2K7_ENST00000397979.3_Splice_Site|MAP2K7_ENST00000545011.1_Splice_Site			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	NA					activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|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	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	CATGTCCCCAGCATTGAGATT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	28	27			NA	NA	19		NA											NA				7974947		2037	4178	6215	SO:0001630	splice_region_variant			AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	5609	5609	2.7.12.2	Mitogen-activated protein kinase cascade / Kinase kinases	6847	protein-coding gene	gene with protein product		603014		PRKMK7	NA	9312068	Standard		XM_005272489	NA	Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397981.3:c.267-1G>A	19.37:g.7974947G>A		NA	B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	37		.	.	.	.	.	.	.	.	.	.	G	15.67	2.901762	0.52227	.	.	ENSG00000076984	ENST00000397981;ENST00000397983;ENST00000545011;ENST00000425613;ENST00000397979	.	.	.	4.69	3.65	0.41850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9413	0.47275	0.0938:0.0:0.9062:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAP2K7	7880947	1.000000	0.71417	0.988000	0.46212	0.856000	0.48823	3.565000	0.53798	1.118000	0.41863	0.561000	0.74099	.	MAP2K7-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000267979.1	Intron	+	ENST00000397981.3	Splice_Site	SNP	19 : 7974947 - 7974947 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	68	6
ARID4B	51742	broad.mit.edu	37	1	235345456	235345456	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235345456A>G	ENST00000264183.3	-	20	3275	c.2778T>C	c.(2776-2778)gaT>gaC	p.D926D	ARID4B_ENST00000366603.2_Silent_p.D926D|ARID4B_ENST00000349213.3_Silent_p.D840D	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	926					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTGACCAGACATCTTTTCGAT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	77	75			NA	NA	1		NA											NA				235345456		2203	4300	6503	SO:0001819	synonymous_variant			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267	51742	51742		-	15550	protein-coding gene	gene with protein product		609696	retinoblastoma binding protein 1-like 1, AT rich interactive domain 4B (RBP1- like)	RBP1L1	NA	11481388	Standard	NM_016374	NM_016374	NA	Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2778T>C	1.37:g.235345456A>G		NA	A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	37	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	A	5.644	0.303425	0.10678	.	.	ENSG00000054267	ENST00000444620	.	.	.	5.63	-0.905	0.10527	.	.	.	.	.	T	0.57562	0.2062	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53258	-0.8464	4	.	.	.	-20.0254	10.6774	0.45794	0.5946:0.0:0.4054:0.0	.	.	.	.	T	326	.	.	M	-	2	0	ARID4B	233412079	0.933000	0.31639	0.997000	0.53966	0.997000	0.91878	0.138000	0.16016	-0.170000	0.10816	0.477000	0.44152	ATG	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095566.3		-	ENST00000264183.3	Silent	SNP	1 : 235345456 - 235345456 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	860	231
METTL3	56339	broad.mit.edu	37	14	21971467	21971467	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21971467G>A	ENST00000298717.4	-	3	723	c.572C>T	c.(571-573)gCc>gTc	p.A191V	METTL3_ENST00000538267.1_Intron	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	191					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		TAACGAACTGGCAAAGGCAGC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	90	97			NA	NA	14		NA											NA				21971467		2203	4300	6503	SO:0001583	missense			AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	56339	56339	2.1.1.62		17563	protein-coding gene	gene with protein product	N6-adenosine-methyltransferase 70 kDa subunit	612472			NA		Standard	NM_019852	XM_006720206	NA	Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.572C>T	14.37:g.21971467G>A	ENSP00000298717:p.Ala191Val	NA	O14736|Q86V05|Q9HB32	37	CCDS32044.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.688699	0.29962	.	.	ENSG00000165819	ENST00000298717	T	0.31247	1.5	5.36	4.48	0.54585	.	0.495398	0.23868	N	0.043762	T	0.14700	0.0355	N	0.08118	0	0.80722	D	1	B;B;B	0.11235	0.004;0.004;0.001	B;B;B	0.21546	0.006;0.035;0.002	T	0.08827	-1.0703	10	0.12103	T	0.63	.	9.3888	0.38361	0.163:0.0:0.837:0.0	.	191;191;191	B4E2F6;B4DTN4;Q86U44	.;.;MTA70_HUMAN	V	191	ENSP00000298717:A191V	ENSP00000298717:A191V	A	-	2	0	METTL3	21041307	1.000000	0.71417	0.980000	0.43619	0.667000	0.39255	7.944000	0.87722	1.511000	0.48818	-0.251000	0.11542	GCC	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401227.1		-	ENST00000298717.4	Missense_Mutation	SNP	14 : 21971467 - 21971467 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	355	65
FKBP15	23307	broad.mit.edu	37	9	115928378	115928378	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115928378C>T	ENST00000238256.3	-	28	3757	c.3640G>A	c.(3640-3642)Gac>Aac	p.D1214N		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	1214	Poly-Asp.				endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CAGTCAATGTCATCGTCATCA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	64	63			NA	NA	9		NA											NA				115928378		2000	4183	6183	SO:0001583	missense			AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321	23307	23307		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	23397	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 76, WASP and FKBP-like protein		KIAA0674	KIAA0674	NA	16756961, 20376207	Standard	NM_015258	NM_015258	NA	Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.3640G>A	9.37:g.115928378C>T	ENSP00000238256:p.Asp1214Asn	NA	Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	37	CCDS48007.1	.	.	.	.	.	.	.	.	.	.	C	33	5.193798	0.94960	.	.	ENSG00000119321	ENST00000446284;ENST00000238256	T;T	0.36157	1.27;1.29	5.7	5.7	0.88788	.	.	.	.	.	T	0.56352	0.1979	L	0.51422	1.61	0.41849	D	0.990163	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.57100	-0.7869	9	0.87932	D	0	-9.6325	17.3254	0.87245	0.0:1.0:0.0:0.0	.	795;1214	B4DVS2;Q5T1M5	.;FKB15_HUMAN	N	1239;1214	ENSP00000416158:D1239N;ENSP00000238256:D1214N	ENSP00000238256:D1214N	D	-	1	0	FKBP15	114968199	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.455000	0.60075	2.687000	0.91594	0.563000	0.77884	GAC	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding			-	ENST00000238256.3	Missense_Mutation	SNP	9 : 115928378 - 115928378 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	142	20
GPRIN2	9721	broad.mit.edu	37	10	46999326	46999326	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46999326G>A	ENST00000374317.1	+	3	719	c.446G>A	c.(445-447)aGc>aAc	p.S149N	GPRIN2_ENST00000374314.4_Missense_Mutation_p.S149N	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	149										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CTTGGCAGCAGCCCTGTCCAC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	32	34			NA	NA	10		NA											NA				46999326		2203	4300	6503	SO:0001583	missense			BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175	9721	9721			23730	protein-coding gene	gene with protein product		611240	KIAA0514	KIAA0514	NA	9628581	Standard	NM_014696	NM_014696	NA	Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.446G>A	10.37:g.46999326G>A	ENSP00000363436:p.Ser149Asn	NA	Q5SVF0	37	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108281	0.37242	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.04234	3.67;3.67	5.41	2.53	0.30540	.	0.875658	0.09507	N	0.792806	T	0.12774	0.0310	M	0.65975	2.015	0.18873	N	0.999989	D	0.61080	0.989	P	0.58266	0.836	T	0.21861	-1.0233	10	0.33940	T	0.23	-2.5873	5.3762	0.16166	0.0:0.6485:0.1713:0.1803	.	149	O60269	GRIN2_HUMAN	N	149	ENSP00000363436:S149N;ENSP00000363433:S149N	ENSP00000363433:S149N	S	+	2	0	GPRIN2	46419332	0.007000	0.16637	0.068000	0.19968	0.665000	0.39181	0.497000	0.22514	0.785000	0.33685	-0.153000	0.13522	AGC	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047836.1		+	ENST00000374317.1	Missense_Mutation	SNP	10 : 46999326 - 46999326 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	203	23
CA6	765	broad.mit.edu	37	1	9030969	9030969	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9030969C>T	ENST00000377436.3	+	7	773	c.773C>T	c.(772-774)aCc>aTc	p.T258I	CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377442.2_Missense_Mutation_p.T198I|CA6_ENST00000377443.2_Missense_Mutation_p.T258I	NM_001270500.1	NP_001257429.1	P23280	CAH6_HUMAN	carbonic anhydrase VI	258					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		CGCAACAAGACCATCCACAAC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	140	144			NA	NA	1		NA											NA				9030969		2203	4300	6503	SO:0001583	missense			M57892	CCDS30578.1, CCDS57970.1, CCDS57971.1	1p36.2	2008-02-05			ENSG00000131686	ENSG00000131686	765	765	4.2.1.1	Carbonic anhydrases	1380	protein-coding gene	gene with protein product		114780			NA	9691177	Standard		NM_001215	NA	Approved		uc031plc.1	P23280	OTTHUMG00000001763	ENST00000377436.3:c.773C>T	1.37:g.9030969C>T	ENSP00000366654:p.Thr258Ile	NA	Q96QX8|Q9UF03	37	CCDS57970.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.639481	0.29157	.	.	ENSG00000131686	ENST00000377443;ENST00000377436;ENST00000377442	T;T;T	0.68025	-0.3;-0.3;-0.3	5.57	3.71	0.42584	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.492459	0.22962	N	0.053539	T	0.73659	0.3615	L	0.56199	1.76	0.24211	N	0.995473	D;D	0.71674	0.998;0.998	D;D	0.68943	0.961;0.961	T	0.62530	-0.6835	10	0.41790	T	0.15	.	8.7616	0.34678	0.0:0.8251:0.0:0.1749	.	198;258	E7EMQ1;P23280	.;CAH6_HUMAN	I	258;258;198	ENSP00000366662:T258I;ENSP00000366654:T258I;ENSP00000366661:T198I	ENSP00000366654:T258I	T	+	2	0	CA6	8953556	0.992000	0.36948	0.034000	0.17996	0.008000	0.06430	3.136000	0.50554	0.721000	0.32231	0.205000	0.17691	ACC	CA6-005	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407379.1		+	ENST00000377436.3	Missense_Mutation	SNP	1 : 9030969 - 9030969 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	609	89
MEN1	4221	broad.mit.edu	37	11	64573758	64573758	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64573758C>T	ENST00000377316.2	-	6	1370	c.995G>A	c.(994-996)cGc>cAc	p.R332H	MEN1_ENST00000377321.1_Missense_Mutation_p.R297H|MEN1_ENST00000394374.2_Missense_Mutation_p.R337H|MEN1_ENST00000394376.1_Missense_Mutation_p.R337H|MEN1_ENST00000443283.1_Missense_Mutation_p.R337H|MEN1_ENST00000315422.4_Missense_Mutation_p.R332H|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000337652.1_Missense_Mutation_p.R337H|MEN1_ENST00000312049.6_Missense_Mutation_p.R332H|MEN1_ENST00000377313.1_Missense_Mutation_p.R337H|MEN1_ENST00000377326.3_Missense_Mutation_p.R332H			O00255	MEN1_HUMAN	multiple endocrine neoplasia I	337	Interaction with FANCD2.				DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CCGCACATTGCGGTTGCGACA	0.602		NA	D, Mis, N, F, S		parathyroid tumors, Pancreatic neuroendocrine tumors	parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated		OREG0004014	type=REGULATORY REGION|Gene=MEN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(1;83 158 15500 18603 18803 29295)	yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	multiple endocrine neoplasia type 1 gene		E	0													211	183	192			NA	NA	11		NA											NA				64573758		2201	4297	6498	SO:0001583	missense	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895	NA	4221			7010	protein-coding gene	gene with protein product	menin	613733			NA		Standard		NM_130799	NA	Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000377316.2:c.995G>A	11.37:g.64573758C>T	ENSP00000366533:p.Arg332His	1077	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	37		.	.	.	.	.	.	.	.	.	.	C	20.4	3.991942	0.74703	.	.	ENSG00000133895	ENST00000377316;ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313;ENST00000440873	D;D;D;D;D;D;D;D;D;D;D	0.99454	-5.92;-5.92;-5.92;-5.92;-5.92;-5.92;-5.92;-5.92;-5.92;-5.92;-5.92	3.92	3.92	0.45320	.	0.139807	0.41712	U	0.000830	D	0.98729	0.9573	L	0.43152	1.355	0.41578	D	0.988725	D;D;D	0.76494	0.999;0.991;0.999	P;P;P	0.60012	0.791;0.796;0.867	D	0.97955	1.0334	10	0.46703	T	0.11	-14.869	7.8854	0.29646	0.0:0.8839:0.0:0.1161	.	332;297;337	O00255-2;O00255-3;O00255	.;.;MEN1_HUMAN	H	332;297;332;332;332;337;337;337;337;337;332	ENSP00000366533:R332H;ENSP00000366538:R297H;ENSP00000366543:R332H;ENSP00000308975:R332H;ENSP00000323747:R332H;ENSP00000337088:R337H;ENSP00000377901:R337H;ENSP00000377899:R337H;ENSP00000396940:R337H;ENSP00000366530:R337H;ENSP00000413944:R332H	ENSP00000308975:R332H	R	-	2	0	MEN1	64330334	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	2.274000	0.43390	1.927000	0.55829	0.456000	0.33151	CGC	MEN1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000143886.6		-	ENST00000377316.2	Missense_Mutation	SNP	11 : 64573758 - 64573758 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	601	166
PTK7	5754	broad.mit.edu	37	6	43113120	43113120	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43113120C>T	ENST00000230419.4	+	16	2811	c.2590C>T	c.(2590-2592)Ctg>Ttg	p.L864L	PTK7_ENST00000352931.2_Silent_p.L808L|PTK7_ENST00000345201.2_Silent_p.L824L|PTK7_ENST00000349241.2_Silent_p.L734L|PTK7_ENST00000481273.1_Silent_p.L872L	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	864	Interaction with CTNNB1.|Protein kinase; inactive.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GCTCCTGGGGCTGTGCCGGGA	0.622		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	6		NA											NA				43113120		2203	4300	6503	SO:0001819	synonymous_variant			AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	NA	5754	2.7.10.1	Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	9618	protein-coding gene	gene with protein product		601890	PTK7 protein tyrosine kinase 7		NA	7478540	Standard		NM_002821	NA	Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.2590C>T	6.37:g.43113120C>T		NA	A8K974|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	37	CCDS4884.1																																																																																			PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040580.2		+	ENST00000230419.4	Silent	SNP	6 : 43113120 - 43113120 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	441	87
AFF2	2334	broad.mit.edu	37	X	148069061	148069061	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:148069061C>T	ENST00000370460.2	+	20	4267	c.3788C>T	c.(3787-3789)gCc>gTc	p.A1263V	AFF2_ENST00000342251.3_Missense_Mutation_p.A1230V|AFF2_ENST00000286437.5_Missense_Mutation_p.A904V|AFF2_ENST00000370457.5_Missense_Mutation_p.A1228V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1263					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGATATGGCCGACAAACTG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													195	151	166			NA	NA	X		NA											NA				148069061		2203	4300	6503	SO:0001583	missense			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966	2334	2334			3776	protein-coding gene	gene with protein product		300806	fragile X mental retardation 2	FMR2	NA		Standard	NM_002025	NM_002025	NA	Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3788C>T	X.37:g.148069061C>T	ENSP00000359489:p.Ala1263Val	NA	A2RTY4|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	37	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	35	5.511101	0.96386	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.89812	0.6823	M	0.85859	2.78	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.998;0.998;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.995;0.998;0.998;0.998;0.999	D	0.91090	0.4906	10	0.87932	D	0	.	18.9513	0.92642	0.0:1.0:0.0:0.0	.	904;1228;1228;1224;1253;1263	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	V	1263;1228;1230;904	ENSP00000359489:A1263V;ENSP00000359486:A1228V;ENSP00000345459:A1230V;ENSP00000286437:A904V	ENSP00000286437:A904V	A	+	2	0	AFF2	147876767	1.000000	0.71417	0.955000	0.39395	0.912000	0.54170	7.786000	0.85741	2.423000	0.82170	0.600000	0.82982	GCC	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058673.2		+	ENST00000370460.2	Missense_Mutation	SNP	X : 148069061 - 148069061 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	425	81
RSPH9	221421	broad.mit.edu	37	6	43638647	43638647	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43638647C>T	ENST00000372165.4	+	6	897	c.844C>T	c.(844-846)Cac>Tac	p.H282Y	RSPH9_ENST00000372163.4_Silent_p.G264G	NM_001193341.1	NP_001180270.1	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	0					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TCTACGTGGGCACTGGCGAGA	0.532		NA							Kartagener syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	72	79			NA	NA	6		NA											NA				43638647		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AK055407	CCDS4905.1, CCDS55005.1	6p21.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000172426	ENSG00000172426	221421	221421			21057	protein-coding gene	gene with protein product		612648	mitochondrial ribosomal protein S18A-like 1, chromosome 6 open reading frame 206	MRPS18AL1, C6orf206	NA	19200523	Standard	NM_152732	NM_152732	NA	Approved	FLJ30845, CILD12	uc003ovx.2	Q9H1X1	OTTHUMG00000014746	ENST00000372165.4:c.844C>T	6.37:g.43638647C>T	ENSP00000361238:p.His282Tyr	NA	A8K5T4	37	CCDS55005.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104727	0.77096	.	.	ENSG00000172426	ENST00000372165	.	.	.	5.97	5.11	0.69529	.	0.475237	0.26082	N	0.026444	T	0.42268	0.1195	.	.	.	0.80722	D	1	B	0.14438	0.01	B	0.15484	0.013	T	0.49969	-0.8882	8	0.87932	D	0	-0.498	13.149	0.59478	0.0:0.9227:0.0:0.0773	.	282	Q96NH9	.	Y	282	.	ENSP00000361238:H282Y	H	+	1	0	RSPH9	43746625	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	1.430000	0.34914	1.536000	0.49237	0.655000	0.94253	CAC	RSPH9-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040689.1		+	ENST00000372165.4	Missense_Mutation	SNP	6 : 43638647 - 43638647 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	314	61
MAP3K13	9175	broad.mit.edu	37	3	185200169	185200169	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185200169C>T	ENST00000265026.3	+	14	3160	c.2826C>T	c.(2824-2826)gaC>gaT	p.D942D	TMEM41A_ENST00000475480.1_Intron|MAP3K13_ENST00000535426.1_Silent_p.D798D|MAP3K13_ENST00000443863.1_Silent_p.D798D|MAP3K13_ENST00000446828.1_Silent_p.D735D|MAP3K13_ENST00000424227.1_Silent_p.D942D	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	942					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	p.D942D(1)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAGAATCGGACTGTGACTCTT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											208	187	194			NA	NA	3		NA											NA				185200169		2203	4300	6503	SO:0001819	synonymous_variant			BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803	9175	9175		Mitogen-activated protein kinase cascade / Kinase kinase kinases	6852	protein-coding gene	gene with protein product	leucine zipper-bearing kinase	604915			NA	9353328	Standard	NM_004721	NM_004721	NA	Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.2826C>T	3.37:g.185200169C>T		NA	B2R6U2|B4DLE3|B4DMV2|B4DZJ4|D3DNU1|Q05BY6|Q15450|Q2NKN3	37	CCDS3270.1																																																																																			MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345268.1		+	ENST00000265026.3	Silent	SNP	3 : 185200169 - 185200169 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	675	135
TYW3	127253	broad.mit.edu	37	1	75204373	75204373	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75204373G>A	ENST00000370867.3	+	3	344		c.e3-1		TYW3_ENST00000421739.2_Intron|TYW3_ENST00000457880.2_Intron|TYW3_ENST00000479111.1_Splice_Site	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	NA					tRNA processing		methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						CATTTATTTAGATTGTAGCTC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	114	116			NA	NA	1		NA											NA				75204373		2203	4300	6503	SO:0001630	splice_region_variant			BX647591	CCDS666.1, CCDS53334.1	1p31.1	2008-02-05	2006-05-25	2006-05-25	ENSG00000162623	ENSG00000162623	127253	127253			24757	protein-coding gene	gene with protein product		611245	chromosome 1 open reading frame 171	C1orf171	NA	17150819	Standard	NM_138467	NM_138467	NA	Approved	FLJ40918	uc001dgn.3	Q6IPR3	OTTHUMG00000009641	ENST00000370867.3:c.256-1G>A	1.37:g.75204373G>A		NA	Q5HYJ0|Q8N7L1	37	CCDS666.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073238	0.36566	.	.	ENSG00000162623	ENST00000370867	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6313	0.95704	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TYW3	74976961	1.000000	0.71417	0.983000	0.44433	0.060000	0.15804	5.848000	0.69458	2.937000	0.99478	0.650000	0.86243	.	TYW3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026573.1	Intron	+	ENST00000370867.3	Splice_Site	SNP	1 : 75204373 - 75204373 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	171	28
PLXNB1	5364	broad.mit.edu	37	3	48451722	48451722	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48451722T>C	ENST00000358536.4	-	31	5857	c.5588A>G	c.(5587-5589)gAt>gGt	p.D1863G	PLXNB1_ENST00000358459.4_Missense_Mutation_p.D1680G|PLXNB1_ENST00000296440.6_Missense_Mutation_p.D1863G|PLXNB1_ENST00000448774.2_Missense_Mutation_p.D474G|PLXNB1_ENST00000456774.1_Missense_Mutation_p.D1680G	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1863					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGGACATAATCCTGGTTTTC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	98	101			NA	NA	3		NA											NA				48451722		2203	4300	6503	SO:0001583	missense			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050	5364	5364		Plexins	9103	protein-coding gene	gene with protein product		601053		PLXN5	NA	8570614, 11035813	Standard	NM_002673	XM_005265234	NA	Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.5588A>G	3.37:g.48451722T>C	ENSP00000351338:p.Asp1863Gly	NA	A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	37	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	T	15.41	2.824221	0.50739	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000448774;ENST00000456774	T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73	3.98	3.98	0.46160	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.056764	0.64402	U	0.000002	T	0.29914	0.0748	M	0.64997	1.995	0.80722	D	1	D;B	0.64830	0.994;0.222	D;B	0.69142	0.962;0.199	T	0.02214	-1.1194	10	0.27082	T	0.32	.	12.0712	0.53618	0.0:0.0:0.0:1.0	.	1863;1680	O43157;O43157-2	PLXB1_HUMAN;.	G	1863;1680;1863;474;1680	ENSP00000296440:D1863G;ENSP00000351242:D1680G;ENSP00000351338:D1863G;ENSP00000389320:D474G;ENSP00000414199:D1680G	ENSP00000296440:D1863G	D	-	2	0	PLXNB1	48426726	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.639000	0.83342	1.422000	0.47177	0.460000	0.39030	GAT	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344454.1		-	ENST00000358536.4	Missense_Mutation	SNP	3 : 48451722 - 48451722 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	164	29
CDCA2	157313	broad.mit.edu	37	8	25337590	25337590	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25337590C>T	ENST00000330560.3	+	8	1459	c.982C>T	c.(982-984)Cgt>Tgt	p.R328C	CDCA2_ENST00000380665.3_Missense_Mutation_p.R313C|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	328					cell division|mitosis	cytoplasm|nucleus		p.R328C(1)		breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CTTTGTACTTCGTTCTGTACT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)						C	CYS/ARG	0,4406		0,0,2203	112	99	103		982	5.3	1	8		103	1,8599	1.2+/-3.3	0,1,4299	no	missense	CDCA2	NM_152562.2	180	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	328/1024	25337590	1,13005	2203	4300	6503	SO:0001583	missense			BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661	157313	157313			14623	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 81				NA	12188893, 16492807	Standard	NM_152562	NM_152562	NA	Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.982C>T	8.37:g.25337590C>T	ENSP00000328228:p.Arg328Cys	NA	Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	37	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692993	0.68271	0.0	1.16E-4	ENSG00000184661	ENST00000330560;ENST00000380665	T;T	0.63580	-0.05;-0.05	5.32	5.32	0.75619	.	0.082402	0.50627	D	0.000103	T	0.78310	0.4263	M	0.73598	2.24	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.80139	-0.1507	10	0.87932	D	0	-18.3521	14.3712	0.66840	0.0:1.0:0.0:0.0	.	328;313;328	B7Z5Q5;E9PEI0;Q69YH5	.;.;CDCA2_HUMAN	C	328;313	ENSP00000328228:R328C;ENSP00000370040:R313C	ENSP00000328228:R328C	R	+	1	0	CDCA2	25393507	1.000000	0.71417	0.997000	0.53966	0.451000	0.32288	3.662000	0.54510	2.773000	0.95371	0.650000	0.86243	CGT	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216891.3		+	ENST00000330560.3	Missense_Mutation	SNP	8 : 25337590 - 25337590 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	273	54
PRICKLE2	166336	broad.mit.edu	37	3	64085153	64085153	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:64085153G>A	ENST00000295902.6	-	8	2694	c.2109C>T	c.(2107-2109)agC>agT	p.S703S	PRICKLE2_ENST00000564377.1_Silent_p.S759S|PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	703	Arg-rich.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CCTCGCGTTCGCTGGCCAGGT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	46	45			NA	NA	3		NA											NA				64085153		2203	4300	6503	SO:0001819	synonymous_variant			AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637	166336	166336			20340	protein-coding gene	gene with protein product		608501	prickle-like 2 (Drosophila)		NA	12525887	Standard	NM_198859	NM_198859	NA	Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2109C>T	3.37:g.64085153G>A		NA	Q0VF44	37	CCDS2902.1																																																																																			PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352219.1		-	ENST00000295902.6	Silent	SNP	3 : 64085153 - 64085153 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	445	91
DUSP26	78986	broad.mit.edu	37	8	33454996	33454996	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:33454996A>C	ENST00000256261.4	-	2	555	c.38T>G	c.(37-39)tTt>tGt	p.F13C	DUSP26_ENST00000523956.1_Missense_Mutation_p.F13C	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	13						Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		GCGGGCCATAAAAGTCATAGA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	58	58			NA	NA	8		NA											NA				33454996		2203	4300	6503	SO:0001583	missense			AY902194	CCDS6092.1	8p12	2014-09-09			ENSG00000133878	ENSG00000133878	78986	78986		Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases	28161	protein-coding gene	gene with protein product					NA		Standard	NM_024025	NM_024025	NA	Approved	MGC1136, DUSP24	uc003xjp.3	Q9BV47	OTTHUMG00000163961	ENST00000256261.4:c.38T>G	8.37:g.33454996A>C	ENSP00000256261:p.Phe13Cys	NA	D3DSV8|Q9BTW0	37	CCDS6092.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.204645	0.79127	.	.	ENSG00000133878	ENST00000256261;ENST00000523956;ENST00000522982	T;T;T	0.21361	3.82;3.82;2.01	5.5	5.5	0.81552	.	0.360837	0.27744	N	0.018029	T	0.34221	0.0890	L	0.34521	1.04	0.48452	D	0.999657	D	0.76494	0.999	D	0.74674	0.984	T	0.03453	-1.1035	10	0.40728	T	0.16	-20.8967	13.8287	0.63366	1.0:0.0:0.0:0.0	.	13	Q9BV47	DUS26_HUMAN	C	13	ENSP00000256261:F13C;ENSP00000429176:F13C;ENSP00000430922:F13C	ENSP00000256261:F13C	F	-	2	0	DUSP26	33574538	1.000000	0.71417	0.998000	0.56505	0.912000	0.54170	8.292000	0.89930	2.094000	0.63399	0.459000	0.35465	TTT	DUSP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376564.1		-	ENST00000256261.4	Missense_Mutation	SNP	8 : 33454996 - 33454996 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	48
ZNF835	90485	broad.mit.edu	37	19	57176546	57176546	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57176546G>A	ENST00000537055.2	-	2	252	c.21C>T	c.(19-21)gtC>gtT	p.V7V		NM_001005850.2	NP_001005850.2			zinc finger protein 835	NA										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CCTGGAGGGCGACGCTCAAGA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	64	63			NA	NA	19		NA											NA				57176546		1965	4147	6112	SO:0001819	synonymous_variant			AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903	90485	90485		Zinc fingers, C2H2-type	34332	protein-coding gene	gene with protein product					NA		Standard	NM_001005850	NM_001005850	NA	Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.21C>T	19.37:g.57176546G>A		NA		37	CCDS56105.1																																																																																			ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459800.1		-	ENST00000537055.2	Silent	SNP	19 : 57176546 - 57176546 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	341	68
GSTA3	2940	broad.mit.edu	37	6	52770568	52770568	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52770568A>C	ENST00000211122.3	-	2	130	c.65T>G	c.(64-66)cTc>cGc	p.L22R	GSTA3_ENST00000370968.1_Intron	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	22	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	TGCAGCCAAGAGCCACCGGAT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	83	85			NA	NA	6		NA											NA				52770568		2203	4300	6503	SO:0001583	missense			AF020919	CCDS4947.1	6p12.2	2012-06-21	2008-11-26		ENSG00000174156	ENSG00000174156	2940	2940	2.5.1.18	Glutathione S-transferases / Soluble	4628	protein-coding gene	gene with protein product		605449	glutathione S-transferase A3		NA	8307579, 9480897	Standard		NM_000847	NA	Approved		uc003pbb.3	Q16772	OTTHUMG00000014865	ENST00000211122.3:c.65T>G	6.37:g.52770568A>C	ENSP00000211122:p.Leu22Arg	NA	O43468|Q068V6|Q8WWA8|Q9H415	37	CCDS4947.1	.	.	.	.	.	.	.	.	.	.	A	19.24	3.790438	0.70337	.	.	ENSG00000174156	ENST00000211122	T	0.12039	2.72	3.14	3.14	0.36123	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.000000	0.64402	D	0.000001	T	0.48840	0.1522	H	0.99726	4.73	0.48452	D	0.999655	D	0.89917	1.0	D	0.80764	0.994	T	0.70702	-0.4799	10	0.87932	D	0	.	12.0972	0.53761	1.0:0.0:0.0:0.0	.	22	Q16772	GSTA3_HUMAN	R	22	ENSP00000211122:L22R	ENSP00000211122:L22R	L	-	2	0	GSTA3	52878527	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.062000	0.76706	1.688000	0.51068	0.533000	0.62120	CTC	GSTA3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040933.1		-	ENST00000211122.3	Missense_Mutation	SNP	6 : 52770568 - 52770568 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	73
FRAS1	80144	broad.mit.edu	37	4	79367898	79367898	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79367898T>C	ENST00000264895.6	+	43	6314	c.5874T>C	c.(5872-5874)ccT>ccC	p.P1958P		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1957					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACGATGAGCCTCCCAGGATGA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	65	64			NA	NA	4		NA											NA				79367898		1967	4164	6131	SO:0001819	synonymous_variant			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759	80144	80144			19185	protein-coding gene	gene with protein product		607830	Fraser syndrome 1		NA	12766769, 3118036	Standard		NM_025074	NA	Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.5874T>C	4.37:g.79367898T>C		NA	Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	37	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	T	1.378	-0.584137	0.03827	.	.	ENSG00000138759	ENST00000512123	.	.	.	5.78	-1.45	0.08828	.	.	.	.	.	T	0.38825	0.1055	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26189	-1.0110	4	.	.	.	.	0.682	0.00876	0.3835:0.2441:0.1189:0.2534	.	.	.	.	P	187	.	.	S	+	1	0	FRAS1	79586922	0.999000	0.42202	0.991000	0.47740	0.106000	0.19336	0.367000	0.20382	-0.432000	0.07297	-1.140000	0.01884	TCC	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding			+	ENST00000264895.6	Silent	SNP	4 : 79367898 - 79367898 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	162	7
TTC14	151613	broad.mit.edu	37	3	180327721	180327721	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:180327721G>T	ENST00000296015.4	+	12	1836	c.1704G>T	c.(1702-1704)aaG>aaT	p.K568N	TTC14_ENST00000382584.4_Missense_Mutation_p.K568N|TTC14_ENST00000465625.1_3'UTR|TTC14_ENST00000412756.2_3'UTR	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	568							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AGTATGAAAAGACACAGATAA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	148	142			NA	NA	3		NA											NA				180327721		2203	4299	6502	SO:0001583	missense			AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728	151613	151613		Tetratricopeptide (TTC) repeat domain containing	24697	protein-coding gene	gene with protein product					NA	11853319	Standard	NM_133462	NM_001042601	NA	Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.1704G>T	3.37:g.180327721G>T	ENSP00000296015:p.Lys568Asn	NA	Q6UWJ7|Q8TF22	37	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	G	6.093	0.385450	0.11524	.	.	ENSG00000163728	ENST00000296015;ENST00000382584	T;T	0.47869	0.83;0.83	5.19	1.29	0.21616	.	0.293840	0.38272	N	0.001747	T	0.26557	0.0649	N	0.16478	0.41	0.80722	D	1	B;B	0.12630	0.006;0.0	B;B	0.16289	0.015;0.002	T	0.03619	-1.1019	10	0.40728	T	0.16	-7.3015	6.0769	0.19921	0.296:0.0:0.5781:0.1259	.	568;568	Q96N46-2;Q96N46	.;TTC14_HUMAN	N	568	ENSP00000296015:K568N;ENSP00000372027:K568N	ENSP00000296015:K568N	K	+	3	2	TTC14	181810415	1.000000	0.71417	0.996000	0.52242	0.519000	0.34347	1.534000	0.36051	0.100000	0.17581	-0.136000	0.14681	AAG	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349786.1		+	ENST00000296015.4	Missense_Mutation	SNP	3 : 180327721 - 180327721 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1101	212
CPS1	1373	broad.mit.edu	37	2	211454881	211454881	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211454881G>A	ENST00000233072.5	+	8	959	c.763G>A	c.(763-765)Gag>Aag	p.E255K	CPS1_ENST00000430249.2_Missense_Mutation_p.E261K	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	255	Glutamine amidotransferase type-1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CACCAAGATGGAGTATGATGG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													206	214	212			NA	NA	2		NA											NA				211454881		2203	4300	6503	SO:0001583	missense			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	1373	1373	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	carbamoyl-phosphate synthetase 1, mitochondrial		NA		Standard		NM_001122633	NA	Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.763G>A	2.37:g.211454881G>A	ENSP00000233072:p.Glu255Lys	NA	B7Z818|O43774|Q7Z5I5	37	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571917	0.65765	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000536125	D;D	0.89875	-2.58;-2.58	5.91	5.91	0.95273	Glutamine amidotransferase type 1 (2);	0.150178	0.64402	D	0.000018	D	0.85796	0.5780	L	0.37897	1.145	0.80722	D	1	B;B	0.16166	0.016;0.016	B;B	0.15484	0.013;0.013	T	0.79225	-0.1891	10	0.38643	T	0.18	-1.1782	20.2885	0.98538	0.0:0.0:1.0:0.0	.	265;255	Q59HF8;P31327	.;CPSM_HUMAN	K	261;263;255;255	ENSP00000402608:E261K;ENSP00000233072:E255K	ENSP00000233072:E255K	E	+	1	0	CPS1	211163126	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.500000	0.81588	2.791000	0.96007	0.650000	0.86243	GAG	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256569.5		+	ENST00000233072.5	Missense_Mutation	SNP	2 : 211454881 - 211454881 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1183	324
HEATR3	55027	broad.mit.edu	37	16	50102776	50102776	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50102776G>T	ENST00000299192.7	+	3	588	c.397G>T	c.(397-399)Gag>Tag	p.E133*	HEATR3_ENST00000285767.4_Nonsense_Mutation_p.E47*	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	133							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GCTGCTAAAAGAGGTATGCAG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													262	231	241			NA	NA	16		NA											NA				50102776		2198	4300	6498	SO:0001587	stop_gained			BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393	55027	55027			26087	protein-coding gene	gene with protein product		614951			NA	12477932	Standard	NM_182922	XM_005256013	NA	Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.397G>T	16.37:g.50102776G>T	ENSP00000299192:p.Glu133*	NA	A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	37	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	G	36	5.720586	0.96839	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	.	.	.	5.44	4.47	0.54385	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	15.4935	0.75632	0.0:0.0:0.8603:0.1397	.	.	.	.	X	47;133	.	ENSP00000285767:E47X	E	+	1	0	HEATR3	48660277	1.000000	0.71417	0.964000	0.40570	0.617000	0.37484	8.696000	0.91302	1.274000	0.44362	0.655000	0.94253	GAG	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256880.2		+	ENST00000299192.7	Nonsense_Mutation	SNP	16 : 50102776 - 50102776 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	890	181
ZNF224	7767	broad.mit.edu	37	19	44605038	44605038	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44605038C>T	ENST00000336976.6	+	4	354	c.100C>T	c.(100-102)Cga>Tga	p.R34*		NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	34	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GAAGCTGTATCGAGATGTGAT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													213	193	200			NA	NA	19		NA											NA				44605038		2203	4300	6503	SO:0001587	stop_gained			AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680	7767	7767		Zinc fingers, C2H2-type, -	13017	protein-coding gene	gene with protein product		194555	zinc finger protein 255, zinc finger protein 27	ZNF255, ZNF27	NA		Standard	NM_013398	NM_013398	NA	Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.100C>T	19.37:g.44605038C>T	ENSP00000337368:p.Arg34*	NA	A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	37	CCDS33046.1	.	.	.	.	.	.	.	.	.	.	c	16.45	3.127151	0.56721	.	.	ENSG00000186019	ENST00000336976;ENST00000269981	.	.	.	2.75	1.54	0.23209	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4372	0.32795	0.2317:0.7683:0.0:0.0	.	.	.	.	X	34	.	ENSP00000269981:R34X	R	+	1	2	ZNF224	49296878	0.001000	0.12720	0.107000	0.21349	0.011000	0.07611	-0.383000	0.07398	1.521000	0.48983	0.585000	0.79938	CGA	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460477.1		+	ENST00000336976.6	Nonsense_Mutation	SNP	19 : 44605038 - 44605038 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1056	211
CLEC2L	154790	broad.mit.edu	37	7	139226862	139226862	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139226862G>A	ENST00000422142.2	+	4	600	c.528G>A	c.(526-528)ccG>ccA	p.P176P		NM_001080511.2	NP_001073980.2	P0C7M8	CLC2L_HUMAN	C-type lectin domain family 2, member L	176	C-type lectin.					integral to membrane	sugar binding			NS(1)|endometrium(1)|kidney(2)|lung(1)	5	Melanoma(164;0.233)					CGTTTGATCCGGACACGTGAG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	62	59			NA	NA	7		NA											NA				139226862		1974	4163	6137	SO:0001819	synonymous_variant			AK057548	CCDS47724.1	7q34	2011-05-18			ENSG00000236279	ENSG00000236279	154790	154790		C-type lectin domain containing	21969	protein-coding gene	gene with protein product					NA		Standard	NM_001080511	NM_001080511	NA	Approved	FLJ32986	uc010lnd.3	P0C7M8	OTTHUMG00000164900	ENST00000422142.2:c.528G>A	7.37:g.139226862G>A		NA		37	CCDS47724.1	.	.	.	.	.	.	.	.	.	.	G	7.661	0.684991	0.14973	.	.	ENSG00000236279	ENST00000521281	.	.	.	4.44	-8.89	0.00785	.	.	.	.	.	T	0.22282	0.0537	.	.	.	0.32012	N	0.601904	.	.	.	.	.	.	T	0.11131	-1.0600	4	.	.	.	-10.2005	2.878	0.05638	0.5044:0.0892:0.2281:0.1784	.	.	.	.	Q	100	.	.	R	+	2	0	CLEC2L	138877402	0.007000	0.16637	0.247000	0.24249	0.869000	0.49853	-2.660000	0.00851	-2.867000	0.00324	-1.166000	0.01754	CGG	CLEC2L-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380878.1		+	ENST00000422142.2	Silent	SNP	7 : 139226862 - 139226862 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	92	11
GPRASP1	9737	broad.mit.edu	37	X	101912242	101912242	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101912242G>A	ENST00000361600.5	+	5	4202	c.3401G>A	c.(3400-3402)aGt>aAt	p.S1134N	GPRASP1_ENST00000415986.1_Missense_Mutation_p.S1134N|GPRASP1_ENST00000537097.1_Missense_Mutation_p.S1134N|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.S1134N	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1134	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GCCAAGGAGAGTACAGAGCCT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	102	106			NA	NA	X		NA											NA				101912242		2203	4300	6503	SO:0001583	missense			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932	9737	9737		Armadillo repeat containing	24834	protein-coding gene	gene with protein product		300417			NA	9455477, 15086532, 16221301	Standard	NM_014710	NM_014710	NA	Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3401G>A	X.37:g.101912242G>A	ENSP00000355146:p.Ser1134Asn	NA	O43168|Q96LA1	37	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	G	0.125	-1.120952	0.01785	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.09255	3.0;3.0;3.0;3.0	2.74	0.891	0.19224	Armadillo-type fold (1);	.	.	.	.	T	0.10423	0.0255	L	0.57536	1.79	0.09310	N	1	B	0.30824	0.296	B	0.28991	0.097	T	0.26643	-1.0097	9	0.52906	T	0.07	-6.343	4.4784	0.11755	0.3479:0.0:0.6521:0.0	.	1134	Q5JY77	GASP1_HUMAN	N	1134	ENSP00000393691:S1134N;ENSP00000409420:S1134N;ENSP00000355146:S1134N;ENSP00000445683:S1134N	ENSP00000355146:S1134N	S	+	2	0	GPRASP1	101798898	0.344000	0.24827	0.266000	0.24541	0.127000	0.20565	0.916000	0.28651	0.116000	0.18110	0.284000	0.19432	AGT	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057634.2		+	ENST00000361600.5	Missense_Mutation	SNP	X : 101912242 - 101912242 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	471	130
FKBP8	23770	broad.mit.edu	37	19	18652785	18652785	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18652785C>A	ENST00000608443.1	-	0	195				FKBP8_ENST00000597960.3_5'UTR|FKBP8_ENST00000596558.2_5'UTR|FKBP8_ENST00000453489.2_Missense_Mutation_p.S28I|FKBP8_ENST00000610101.1_5'UTR|FKBP8_ENST00000222308.4_5'UTR			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	NA					apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						TGCCATGCTGCTGGGGGGACA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	23	23			NA	NA	19		NA											NA				18652785		2201	4292	6493	SO:0001623	5_prime_UTR_variant			L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701	23770	23770		Tetratricopeptide (TTC) repeat domain containing	3724	protein-coding gene	gene with protein product	FK506-binding protein 8 (38kD)	604840	FK506-binding protein 8 (38kD)		NA	7543869	Standard	NM_012181	NM_012181	NA	Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000608443.1:c.-5G>T	19.37:g.18652785C>A		NA	Q53GU3|Q7Z349|Q86YK6	37	CCDS32961.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.212560	0.39102	.	.	ENSG00000105701	ENST00000453489	T	0.35605	1.3	4.01	2.94	0.34122	.	.	.	.	.	T	0.25680	0.0625	.	.	.	0.80722	D	1	B	0.28512	0.214	B	0.23018	0.043	T	0.07849	-1.0751	8	0.56958	D	0.05	.	6.3309	0.21269	0.0:0.7081:0.1847:0.1071	.	28	B7Z6M0	.	I	28	ENSP00000388891:S28I	ENSP00000388891:S28I	S	-	2	0	FKBP8	18513785	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	0.813000	0.27225	0.792000	0.33850	0.491000	0.48974	AGC	FKBP8-014	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000471638.1		-	ENST00000608443.1	5'UTR	SNP	19 : 18652785 - 18652785 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	184	40
CDHR1	92211	broad.mit.edu	37	10	85955302	85955302	+	Silent	SNP	C	C	T	rs143674495		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85955302C>T	ENST00000372117.3	+	2	211	c.108C>T	c.(106-108)aaC>aaT	p.N36N	CDHR1_ENST00000332904.3_Silent_p.N36N	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	36	Cadherin 1.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GCAGCACCAACGGAAACATGG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	121	128			NA	NA	10		NA											NA				85955302		2203	4300	6503	SO:0001819	synonymous_variant			AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600	92211	92211		Cadherins / Cadherin-related	14550	protein-coding gene	gene with protein product		609502	protocadherin 21	PCDH21	NA	11597768	Standard	NM_033100	NM_001171971	NA	Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.108C>T	10.37:g.85955302C>T		NA	Q69YZ8|Q8IXY5	37	CCDS7372.1																																																																																			CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049111.1		+	ENST00000372117.3	Silent	SNP	10 : 85955302 - 85955302 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	197	13
MYO5B	4645	broad.mit.edu	37	18	47390710	47390710	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47390710T>C	ENST00000285039.7	-	28	3943	c.3644A>G	c.(3643-3645)gAc>gGc	p.D1215G	MYO5B_ENST00000587895.1_5'UTR|MYO5B_ENST00000324581.6_Missense_Mutation_p.D356G	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1215					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CTCATTCAGGTCATTCTTCAG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	148	144			NA	NA	18		NA											NA				47390710		2013	4176	6189	SO:0001583	missense			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306	4645	4645		Myosins / Myosin superfamily : Class V	7603	protein-coding gene	gene with protein product		606540			NA	8884266, 17462998	Standard		NM_001080467	NA	Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.3644A>G	18.37:g.47390710T>C	ENSP00000285039:p.Asp1215Gly	NA	B0I1R3	37	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.636939	0.87760	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	T;T	0.22743	1.94;1.94	5.5	5.5	0.81552	.	0.225560	0.44688	D	0.000437	T	0.33294	0.0858	M	0.71036	2.16	0.80722	D	1	B;P	0.35456	0.091;0.502	B;B	0.42188	0.21;0.379	T	0.10314	-1.0635	10	0.56958	D	0.05	.	15.2853	0.73822	0.0:0.0:0.0:1.0	.	1215;356	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	G	1215;356	ENSP00000285039:D1215G;ENSP00000315531:D356G	ENSP00000285039:D1215G	D	-	2	0	MYO5B	45644708	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.020000	0.88740	2.093000	0.63338	0.459000	0.35465	GAC	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448515.2		-	ENST00000285039.7	Missense_Mutation	SNP	18 : 47390710 - 47390710 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1262	256
MAGEA4	4103	broad.mit.edu	37	X	151092439	151092439	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151092439C>T	ENST00000360243.2	+	3	570	c.303C>T	c.(301-303)gaC>gaT	p.D101D	MAGEA4_ENST00000370340.3_Silent_p.D101D|MAGEA4_ENST00000393921.1_Silent_p.D101D|MAGEA4_ENST00000370335.1_Silent_p.D101D|MAGEA4_ENST00000276344.2_Silent_p.D101D|MAGEA4_ENST00000393920.1_Silent_p.D101D|MAGEA4_ENST00000370337.4_Silent_p.D101D	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	101							protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCGCCTGACGCAGAGTCCT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	68	70			NA	NA	X		NA											NA				151092439		2203	4300	6503	SO:0001819	synonymous_variant				CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381	4103	4103			6802	protein-coding gene	gene with protein product	melanoma-associated antigen 4, cancer/testis antigen family 1, member 4	300175		MAGE4	NA	8575766	Standard	NM_002362	XM_005274677	NA	Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.303C>T	X.37:g.151092439C>T		NA	Q14798	37	CCDS14702.1																																																																																			MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060898.1		+	ENST00000360243.2	Silent	SNP	X : 151092439 - 151092439 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	101
NOTCH1	4851	broad.mit.edu	37	9	139410085	139410085	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139410085C>T	ENST00000277541.6	-	11	1828	c.1753G>A	c.(1753-1755)Gcc>Acc	p.A585T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	585	EGF-like 15; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTGAAGGTGGCGACGCCGTCC	0.692		NA	T, Mis, O	TRB@	T-ALL					HNSCC(8;0.001)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		9	9q34.3	4851	Notch homolog 1, translocation-associated (Drosophila) (TAN1)		L	0													20	31	27			NA	NA	9		NA											NA				139410085		2171	4280	6451	SO:0001583	missense			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400	4851	4851		Ankyrin repeat domain containing	7881	protein-coding gene	gene with protein product		190198	Notch (Drosophila) homolog 1 (translocation-associated), Notch homolog 1, translocation-associated (Drosophila)	TAN1	NA	1831692	Standard	NM_017617	NM_017617	NA	Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1753G>A	9.37:g.139410085C>T	ENSP00000277541:p.Ala585Thr	NA	Q59ED8|Q5SXM3	37	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313318	0.81358	.	.	ENSG00000148400	ENST00000277541	D	0.91792	-2.91	5.16	3.26	0.37387	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.91133	0.7208	L	0.31664	0.95	0.80722	D	1	D	0.53151	0.958	P	0.56563	0.801	D	0.89859	0.4015	10	0.49607	T	0.09	.	13.248	0.60033	0.2896:0.7104:0.0:0.0	.	585	P46531	NOTC1_HUMAN	T	585	ENSP00000277541:A585T	ENSP00000277541:A585T	A	-	1	0	NOTCH1	138529906	1.000000	0.71417	0.744000	0.31058	0.973000	0.67179	5.893000	0.69798	0.519000	0.28406	-0.270000	0.10280	GCC	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055087.1		-	ENST00000277541.6	Missense_Mutation	SNP	9 : 139410085 - 139410085 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	129	18
TOX2	84969	broad.mit.edu	37	20	42695431	42695431	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42695431A>G	ENST00000358131.5	+	7	1572	c.1364A>G	c.(1363-1365)aAc>aGc	p.N455S	TOX2_ENST00000341197.4_Missense_Mutation_p.N473S|TOX2_ENST00000423191.2_Missense_Mutation_p.N431S|TOX2_ENST00000372999.1_Missense_Mutation_p.N431S|TOX2_ENST00000435864.2_3'UTR	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	455	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GGCCCATCCAACCCCACCAGC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	119	122			NA	NA	20		NA											NA				42695431		2203	4300	6503	SO:0001583	missense			BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20			84969	84969			16095	protein-coding gene	gene with protein product	granulosa cell HMG box 1	611163	chromosome 20 open reading frame 100	C20orf100	NA	14764631	Standard		NM_001098796	NA	Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.1364A>G	20.37:g.42695431A>G	ENSP00000350849:p.Asn455Ser	NA	Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	37	CCDS42875.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.373|8.373	0.835797|0.835797	0.16820|0.16820	.|.	.|.	ENSG00000124191|ENSG00000124191	ENST00000341197;ENST00000423191;ENST00000372999;ENST00000358131;ENST00000435864|ENST00000372992;ENST00000413823	T;T;T;T;T|.	0.17370|.	2.6;2.6;2.6;2.28;2.32|.	5.78|5.78	2.26|2.26	0.28386|0.28386	.|.	0.655368|.	0.14705|.	N|.	0.303308|.	T|T	0.54046|0.54046	0.1834|0.1834	L|L	0.58810|0.58810	1.83|1.83	0.36582|0.36582	D|D	0.873572|0.873572	B;P;P;P|.	0.47106|.	0.011;0.89;0.824;0.622|.	B;B;B;B|.	0.43413|.	0.005;0.419;0.3;0.152|.	T|T	0.58070|0.58070	-0.7701|-0.7701	10|6	0.42905|0.87932	T|D	0.14|0	.|.	5.3812|5.3812	0.16192|0.16192	0.7002:0.148:0.1518:0.0|0.7002:0.148:0.1518:0.0	.|.	351;473;455;431|.	B4DQV8;G3XAC7;Q96NM4;E1P5X0|.	.;.;TOX2_HUMAN;.|.	S|A	473;431;431;455;351|80	ENSP00000344724:N473S;ENSP00000390278:N431S;ENSP00000362090:N431S;ENSP00000350849:N455S;ENSP00000396777:N351S|.	ENSP00000344724:N473S|ENSP00000362083:T80A	N|T	+|+	2|1	0|0	TOX2|TOX2	42128845|42128845	1.000000|1.000000	0.71417|0.71417	0.493000|0.493000	0.27502|0.27502	0.197000|0.197000	0.23852|0.23852	2.105000|2.105000	0.41825|0.41825	0.102000|0.102000	0.17638|0.17638	0.533000|0.533000	0.62120|0.62120	AAC|ACC	TOX2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079329.2		+	ENST00000358131.5	Missense_Mutation	SNP	20 : 42695431 - 42695431 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	871	156
OR2M5	127059	broad.mit.edu	37	1	248308805	248308805	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248308805C>A	ENST00000366476.1	+	1	356	c.356C>A	c.(355-357)tCt>tAt	p.S119Y		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GCTGTTATGTCTTATGACCGC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													311	305	307			NA	NA	1		NA											NA				248308805		2203	4300	6503	SO:0001583	missense				CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727	127059	127059		GPCR / Class A : Olfactory receptors	19576	protein-coding gene	gene with protein product				OR2M5P	NA		Standard	NM_001004690	NM_001004690	NA	Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.356C>A	1.37:g.248308805C>A	ENSP00000355432:p.Ser119Tyr	NA		37	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	c	12.00	1.805259	0.31961	.	.	ENSG00000162727	ENST00000366476	T	0.52754	0.65	3.28	3.28	0.37604	GPCR, rhodopsin-like superfamily (1);	0.267855	0.19552	U	0.111557	T	0.68192	0.2974	H	0.94183	3.505	0.34401	D	0.695327	B	0.29188	0.236	B	0.41988	0.372	T	0.81239	-0.1023	10	0.87932	D	0	.	14.4562	0.67418	0.0:1.0:0.0:0.0	.	119	A3KFT3	OR2M5_HUMAN	Y	119	ENSP00000355432:S119Y	ENSP00000355432:S119Y	S	+	2	0	OR2M5	246375428	0.997000	0.39634	0.177000	0.23020	0.157000	0.22087	4.043000	0.57354	1.528000	0.49103	0.492000	0.49549	TCT	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097343.1		+	ENST00000366476.1	Missense_Mutation	SNP	1 : 248308805 - 248308805 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2167	344
ZC3H7B	23264	broad.mit.edu	37	22	41723231	41723231	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41723231G>T	ENST00000352645.4	+	5	564	c.307G>T	c.(307-309)Gag>Tag	p.E103*	ZC3H7B_ENST00000351589.4_Nonsense_Mutation_p.E103*	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	103					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GAAGGCGCTGGAGGACAGCGA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	86	94			NA	NA	22		NA											NA				41723231		2203	4300	6503	SO:0001587	stop_gained				CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403	23264	23264		Zinc fingers, CCCH-type domain containing, Tetratricopeptide (TTC) repeat domain containing	30869	protein-coding gene	gene with protein product					NA	10470851, 11230166	Standard	NM_017590	NM_017590	NA	Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.307G>T	22.37:g.41723231G>T	ENSP00000345793:p.Glu103*	NA	A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	37	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	G	37	6.157690	0.97334	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	.	.	.	5.27	5.27	0.74061	.	0.052170	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-34.2907	18.8953	0.92421	0.0:0.0:1.0:0.0	.	.	.	.	X	103	.	ENSP00000263243:E103X	E	+	1	0	ZC3H7B	40053177	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	3.577000	0.53885	2.457000	0.83068	0.491000	0.48974	GAG	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320696.1		+	ENST00000352645.4	Nonsense_Mutation	SNP	22 : 41723231 - 41723231 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	587	103
IFT172	26160	broad.mit.edu	37	2	27677000	27677000	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27677000G>T	ENST00000260570.3	-	33	3663	c.3560C>A	c.(3559-3561)gCt>gAt	p.A1187D		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1187					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CACACGCTGAGCTGCCTCCCA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	78	75			NA	NA	2		NA											NA				27677000		2203	4297	6500	SO:0001583	missense			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002	26160	26160		Intraflagellar transport homologs, WD repeat domain containing	30391	protein-coding gene	gene with protein product	wimple homolog	607386	intraflagellar transport 172 homolog (Chlamydomonas)		NA	10788441, 10574461, 24140113	Standard	NM_015662	XM_005264254	NA	Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.3560C>A	2.37:g.27677000G>T	ENSP00000260570:p.Ala1187Asp	NA	B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	37	CCDS1755.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.404703|5.404703	0.96051|0.96051	.|.	.|.	ENSG00000138002|ENSG00000138002	ENST00000260570|ENST00000443889	T|.	0.55760|.	0.5|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86564|0.86564	0.5963|0.5963	M|M	0.92555|0.92555	3.32|3.32	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.89274|0.89274	0.3607|0.3607	10|5	0.87932|.	D|.	0|.	-8.8992|-8.8992	18.3852|18.3852	0.90464|0.90464	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1187|.	Q9UG01|.	IF172_HUMAN|.	D|R	1187|55	ENSP00000260570:A1187D|.	ENSP00000260570:A1187D|.	A|S	-|-	2|3	0|2	IFT172|IFT172	27530504|27530504	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	9.053000|9.053000	0.93860|0.93860	2.693000|2.693000	0.91896|0.91896	0.462000|0.462000	0.41574|0.41574	GCT|AGC	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250213.2		-	ENST00000260570.3	Missense_Mutation	SNP	2 : 27677000 - 27677000 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1117	183
LAMA2	3908	broad.mit.edu	37	6	129371108	129371108	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129371108C>T	ENST00000421865.2	+	2	207	c.158C>T	c.(157-159)aCg>aTg	p.T53M		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	53	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCTCTTATCACGACCAATGCA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													195	174	181			NA	NA	6		NA											NA				129371108		2203	4300	6503	SO:0001583	missense			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569	3908	3908		Laminins	6482	protein-coding gene	gene with protein product	merosin, congenital muscular dystrophy	156225		LAMM	NA	2185464, 8294519	Standard		NM_000426	NA	Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.158C>T	6.37:g.129371108C>T	ENSP00000400365:p.Thr53Met	NA	Q14736|Q5VUM2|Q93022	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942453	0.73672	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.76316	-1.01	5.44	5.44	0.79542	Laminin, N-terminal (3);	0.234157	0.36815	N	0.002397	T	0.82254	0.4997	L	0.42581	1.335	0.44834	D	0.997846	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.963	D	0.83824	0.0248	10	0.72032	D	0.01	.	19.2501	0.93921	0.0:1.0:0.0:0.0	.	53;53	A6NF00;P24043	.;LAMA2_HUMAN	M	53	ENSP00000400365:T53M	ENSP00000346769:T53M	T	+	2	0	LAMA2	129412801	0.977000	0.34250	0.999000	0.59377	0.933000	0.57130	2.192000	0.42649	2.552000	0.86080	0.561000	0.74099	ACG	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042180.1		+	ENST00000421865.2	Missense_Mutation	SNP	6 : 129371108 - 129371108 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	15
TENM4	26011	broad.mit.edu	37	11	78369282	78369282	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:78369282G>A	ENST00000278550.7	-	34	8593	c.8131C>T	c.(8131-8133)Cgg>Tgg	p.R2711W		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4	NA											NA						TCCCCTTCCCGCAGTCTCTGC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	56	53			NA	NA	11		NA											NA				78369282		2035	4181	6216	SO:0001583	missense			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256	26011	26011			29945	protein-coding gene	gene with protein product		610084	odz, odd Oz/ten-m homolog 4 (Drosophila)	ODZ4	NA	12000766, 10625539	Standard		NM_001098816	NA	Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.8131C>T	11.37:g.78369282G>A	ENSP00000278550:p.Arg2711Trp	NA		37	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.782103	0.70222	.	.	ENSG00000149256	ENST00000278550	D	0.90563	-2.69	5.65	4.73	0.59995	.	0.058269	0.64402	D	0.000002	D	0.94427	0.8207	M	0.70595	2.14	0.51482	D	0.999927	D	0.89917	1.0	D	0.79784	0.993	D	0.94210	0.7458	9	.	.	.	.	15.1939	0.73071	0.0:0.0:0.7447:0.2553	.	2711	Q6N022	TEN4_HUMAN	W	2711	ENSP00000278550:R2711W	.	R	-	1	2	ODZ4	78046930	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.210000	0.58500	1.602000	0.50124	0.655000	0.94253	CGG	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391406.2		-	ENST00000278550.7	Missense_Mutation	SNP	11 : 78369282 - 78369282 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	306	63
CCDC124	115098	broad.mit.edu	37	19	18054174	18054174	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18054174G>A	ENST00000597436.1	+	4	561	c.454G>A	c.(454-456)Gca>Aca	p.A152T	CCDC124_ENST00000445755.2_Missense_Mutation_p.A152T	NM_138442.3	NP_612451.1	Q96CT7	CC124_HUMAN	coiled-coil domain containing 124	152							DNA binding			central_nervous_system(1)|kidney(2)	3						GGACGCCATTGCAGTGCTCAG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	18	17			NA	NA	19		NA											NA				18054174		2185	4279	6464	SO:0001583	missense			BC013949	CCDS12369.1	19p13.11	2014-02-20				ENSG00000007080	115098	115098			25171	protein-coding gene	gene with protein product					NA	23894443	Standard	NM_138442	NM_138442	NA	Approved		uc002nhs.3	Q96CT7		ENST00000597436.1:c.454G>A	19.37:g.18054174G>A	ENSP00000471455:p.Ala152Thr	NA		37	CCDS12369.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.146717	0.37923	.	.	ENSG00000007080	ENST00000445755	T	0.47177	0.85	4.72	3.68	0.42216	.	0.056223	0.64402	D	0.000001	T	0.43299	0.1241	M	0.75884	2.315	0.80722	D	1	B	0.31256	0.316	B	0.29942	0.109	T	0.25328	-1.0135	10	0.11794	T	0.64	-7.0596	10.5857	0.45282	0.0972:0.0:0.9028:0.0	.	152	Q96CT7	CC124_HUMAN	T	152	ENSP00000408730:A152T	ENSP00000408730:A152T	A	+	1	0	CCDC124	17915174	1.000000	0.71417	0.805000	0.32314	0.197000	0.23852	3.995000	0.57001	0.963000	0.38082	0.491000	0.48974	GCA	CCDC124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466484.1		+	ENST00000597436.1	Missense_Mutation	SNP	19 : 18054174 - 18054174 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	51	7
MVK	4598	broad.mit.edu	37	12	110024595	110024595	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110024595C>T	ENST00000228510.3	+	7	744	c.668C>T	c.(667-669)tCc>tTc	p.S223F	MVK_ENST00000392727.3_Missense_Mutation_p.S171F|MVK_ENST00000539696.1_Intron|MVK_ENST00000539575.1_Missense_Mutation_p.S171F|MVK_ENST00000541384.1_Missense_Mutation_p.S29F	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase	223					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						AAGATTTCATCCTTAAAGAGG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	74	75			NA	NA	12		NA											NA				110024595		2203	4300	6503	SO:0001583	missense			M88468	CCDS9132.1, CCDS73522.1	12q24	2014-09-17	2008-01-30		ENSG00000110921	ENSG00000110921	4598	4598	2.7.1.36		7530	protein-coding gene	gene with protein product	LH receptor mRNA-binding protein, mevalonic aciduria	251170	mevalonate kinase (mevalonic aciduria)		NA	1377680	Standard	NM_000431	XM_005253883	NA	Approved	LRBP, MK	uc001toy.4	Q03426	OTTHUMG00000169256	ENST00000228510.3:c.668C>T	12.37:g.110024595C>T	ENSP00000228510:p.Ser223Phe	NA		37	CCDS9132.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685787	0.47991	.	.	ENSG00000110921	ENST00000228510;ENST00000392727;ENST00000539575;ENST00000541384	D;D;D;D	0.97791	-4.54;-4.37;-4.37;-4.38	4.83	3.01	0.34805	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.699813	0.14788	N	0.298383	D	0.95560	0.8557	L	0.59436	1.845	0.09310	N	1	B;D	0.55172	0.007;0.97	B;B	0.42738	0.009;0.396	D	0.90079	0.4169	10	0.51188	T	0.08	1.0E-4	7.2939	0.26383	0.0:0.8002:0.0:0.1998	.	171;223	F5H8H2;Q03426	.;KIME_HUMAN	F	223;171;171;29	ENSP00000228510:S223F;ENSP00000376487:S171F;ENSP00000443551:S171F;ENSP00000443182:S29F	ENSP00000228510:S223F	S	+	2	0	MVK	108508978	0.000000	0.05858	0.001000	0.08648	0.854000	0.48673	0.750000	0.26334	0.629000	0.30376	0.655000	0.94253	TCC	MVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403143.1		+	ENST00000228510.3	Missense_Mutation	SNP	12 : 110024595 - 110024595 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	15
ETV1	2115	broad.mit.edu	37	7	14025798	14025798	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:14025798G>A	ENST00000405192.2	-	4	382				ETV1_ENST00000403685.1_Intron|ETV1_ENST00000430479.1_Intron|ETV1_ENST00000405218.2_Intron|ETV1_ENST00000405358.4_Intron|ETV1_ENST00000343495.5_Intron|ETV1_ENST00000399357.3_Missense_Mutation_p.L2F|ETV1_ENST00000420159.2_Missense_Mutation_p.L2F|ETV1_ENST00000242066.5_Intron|ETV1_ENST00000403527.1_Missense_Mutation_p.L2F	NM_001163147.1	NP_001156619.1	P50549	ETV1_HUMAN	ets variant 1	NA					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						AAATCTTGAAGCATCCCGTCC	0.398		NA	T	EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3	Ewing sarcoma, prostate									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		7	7p22	2115	ets variant gene 1		M, E	0													89	75	79			NA	NA	7		NA											NA				14025798		1567	3576	5143	SO:0001627	intron_variant				CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468	2115	2115			3490	protein-coding gene	gene with protein product		600541	ets variant gene 1		NA	1340465	Standard	NM_004956	NM_004956	NA	Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000405192.2:c.181+464C>T	7.37:g.14025798G>A		NA	A4D118|B2R768|B7Z2I4|O75849|Q4KMQ6|Q9UQ71|Q9Y636	37	CCDS55087.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406125	0.83230	.	.	ENSG00000006468	ENST00000420159;ENST00000399357;ENST00000403527;ENST00000438956;ENST00000443608	T;T;T;T;T	0.39406	2.82;2.51;2.49;1.81;1.08	5.88	5.88	0.94601	.	.	.	.	.	T	0.42539	0.1207	N	0.08118	0	0.40231	D	0.977846	D;P;D	0.69078	0.997;0.932;0.995	D;P;D	0.75484	0.986;0.879;0.969	T	0.18335	-1.0340	9	0.02654	T	1	.	20.297	0.98561	0.0:0.0:1.0:0.0	.	2;2;2	F5GXR2;B7Z9P2;E9PHB1	.;.;.	F	2	ENSP00000411626:L2F;ENSP00000382293:L2F;ENSP00000384138:L2F;ENSP00000393078:L2F;ENSP00000394710:L2F	ENSP00000382293:L2F	L	-	1	0	ETV1	13992323	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.035000	0.93752	2.805000	0.96524	0.551000	0.68910	CTT	ETV1-005	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326115.2		-	ENST00000405192.2	Intron	SNP	7 : 14025798 - 14025798 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	43	13
CES5A	221223	broad.mit.edu	37	16	55905609	55905609	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55905609G>A	ENST00000521992.1	-	4	577	c.432C>T	c.(430-432)ttC>ttT	p.F144F	CES5A_ENST00000520435.1_Intron|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000290567.9_Silent_p.F115F|CES5A_ENST00000518005.1_Silent_p.F9F|CES5A_ENST00000319165.9_Silent_p.F115F	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	115						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTGACACTCCGAATTTCGGGT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	75	82			NA	NA	16		NA											NA				55905609		2198	4300	6498	SO:0001819	synonymous_variant			AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	221223	221223	3.1.1.1	Carboxylesterases	26459	protein-coding gene	gene with protein product			carboxylesterase 7	CES7	NA	20931200	Standard	NM_145024	NM_145024	NA	Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000521992.1:c.432C>T	16.37:g.55905609G>A		NA	B7ZLB6|Q8NBC8|Q96DN9	37	CCDS54012.1																																																																																			CES5A-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381289.1		-	ENST00000521992.1	Silent	SNP	16 : 55905609 - 55905609 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	262	45
DSC2	1824	broad.mit.edu	37	18	28669454	28669454	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28669454C>A	ENST00000280904.6	-	5	1021	c.578G>T	c.(577-579)gGa>gTa	p.G193V	DSC2_ENST00000251081.6_Missense_Mutation_p.G193V	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	193	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ATACAAGTTTCCAGTGTCTCT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	110	111			NA	NA	18		NA											NA				28669454		2203	4300	6503	SO:0001583	missense			X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755	1824	1824		Cadherins / Major cadherins	3036	protein-coding gene	gene with protein product		125645		DSC3	NA	7774948	Standard	NM_004949	NM_024422	NA	Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.578G>T	18.37:g.28669454C>A	ENSP00000280904:p.Gly193Val	NA		37	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688337	0.88639	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000399347	T;T	0.73152	-0.72;-0.72	6.16	6.16	0.99307	Cadherin (5);Cadherin-like (1);	0.000000	0.31697	N	0.007218	D	0.90310	0.6969	H	0.96889	3.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92440	0.5961	10	0.87932	D	0	.	19.6313	0.95704	0.0:1.0:0.0:0.0	.	193;193	Q02487;Q02487-2	DSC2_HUMAN;.	V	193;193;206	ENSP00000251081:G193V;ENSP00000280904:G193V	ENSP00000251081:G193V	G	-	2	0	DSC2	26923452	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	3.504000	0.53347	2.937000	0.99478	0.650000	0.86243	GGA	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254943.1		-	ENST00000280904.6	Missense_Mutation	SNP	18 : 28669454 - 28669454 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	374	74
CSMD3	114788	broad.mit.edu	37	8	113237091	113237091	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113237091T>G	ENST00000297405.5	-	71	11277	c.11033A>C	c.(11032-11034)gAa>gCa	p.E3678A	CSMD3_ENST00000352409.3_Missense_Mutation_p.E3608A|CSMD3_ENST00000343508.3_Missense_Mutation_p.E3638A|CSMD3_ENST00000455883.2_Missense_Mutation_p.E3509A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3678						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATGGGATTTTCAAAAGCTGC	0.423		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													375	334	348			NA	NA	8		NA											NA				113237091		2203	4300	6503	SO:0001583	missense			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796	114788	114788			19291	protein-coding gene	gene with protein product		608399			NA		Standard	NM_052900	NM_052900	NA	Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.11033A>C	8.37:g.113237091T>G	ENSP00000297405:p.Glu3678Ala	NA	Q96PZ3	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.128914	0.77549	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.41400	1.36;1.34;1.44;1.0;1.4	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000001	T	0.65606	0.2707	M	0.73962	2.25	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.998;0.961	D;D;P	0.80764	0.994;0.986;0.712	T	0.69548	-0.5116	10	0.87932	D	0	.	16.1416	0.81528	0.0:0.0:0.0:1.0	.	3509;3678;3638	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	A	3638;3678;2948;3509;3608	ENSP00000345799:E3638A;ENSP00000297405:E3678A;ENSP00000341558:E2948A;ENSP00000412263:E3509A;ENSP00000343124:E3608A	ENSP00000297405:E3678A	E	-	2	0	CSMD3	113306267	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.920000	0.87521	2.209000	0.71365	0.482000	0.46254	GAA	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347141.1		-	ENST00000297405.5	Missense_Mutation	SNP	8 : 113237091 - 113237091 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	698	117
NEB	4703	broad.mit.edu	37	2	152466579	152466579	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152466579C>T	ENST00000603639.1	-	79	12073	c.12074G>A	c.(12073-12075)aGc>aAc	p.S4025N	NEB_ENST00000172853.10_Missense_Mutation_p.S3782N|NEB_ENST00000397345.3_Missense_Mutation_p.S4025N|NEB_ENST00000427231.2_Missense_Mutation_p.S4025N|NEB_ENST00000604864.1_Missense_Mutation_p.S4025N|NEB_ENST00000409198.1_Missense_Mutation_p.S3782N			P20929	NEBU_HUMAN	nebulin	4024					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATCTTCAATGCTCTGGGCTCC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	132	135			NA	NA	2		NA											NA				152466579		1907	4133	6040	SO:0001583	missense			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091	4703	4703			7720	protein-coding gene	gene with protein product	nemaline myopathy type 2	161650		NEM2	NA	10051637, 9359044	Standard	NM_004543	NM_001164507	NA	Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000603639.1:c.12074G>A	2.37:g.152466579C>T	ENSP00000473894:p.Ser4025Asn	NA	Q15346|Q53QQ2|Q53TG8	37	CCDS54407.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791572	0.50102	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.10099	3.05;2.98;2.91;3.06	5.36	5.36	0.76844	.	0.136350	0.64402	D	0.000004	T	0.09949	0.0244	L	0.31926	0.97	0.80722	D	1	B	0.12630	0.006	B	0.17098	0.017	T	0.12293	-1.0553	10	0.33940	T	0.23	.	13.2308	0.59943	0.0:0.9171:0.0:0.0829	.	3782	P20929	NEBU_HUMAN	N	3782;4025;4025;3782	ENSP00000386259:S3782N;ENSP00000380505:S4025N;ENSP00000416578:S4025N;ENSP00000172853:S3782N	ENSP00000172853:S3782N	S	-	2	0	NEB	152174825	0.000000	0.05858	0.420000	0.26596	0.994000	0.84299	0.961000	0.29267	2.682000	0.91365	0.650000	0.86243	AGC	NEB-017	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000469059.2		-	ENST00000603639.1	Missense_Mutation	SNP	2 : 152466579 - 152466579 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	299	61
COX11	1353	broad.mit.edu	37	17	53037950	53037950	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:53037950C>T	ENST00000573912.1	-	1	147				TOM1L1_ENST00000536554.1_Missense_Mutation_p.A388V|TOM1L1_ENST00000445275.2_Missense_Mutation_p.A454V|TOM1L1_ENST00000575882.1_Missense_Mutation_p.A465V|TOM1L1_ENST00000572158.1_Missense_Mutation_p.A458V|TOM1L1_ENST00000348161.4_Missense_Mutation_p.A388V|TOM1L1_ENST00000540336.1_Missense_Mutation_p.A353V			Q9Y6N1	COX11_HUMAN	cytochrome c oxidase assembly homolog 11 (yeast)	NA					respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	copper ion binding|cytochrome-c oxidase activity|electron carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1)	9						GAAATTGATGCTCACCAGCAC	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	110	110			NA	NA	17		NA											NA				53037950		2203	4300	6503	SO:0001627	intron_variant			AF044321	CCDS11583.1, CCDS58579.1	17q22	2012-10-15	2012-10-15			ENSG00000166260	1353	1353		Mitochondrial respiratory chain complex assembly factors	2261	protein-coding gene	gene with protein product	cytochrome c oxidase subunit 11, cytochrome c oxidase assembly protein COX11	603648	COX11 (yeast) homolog, cytochrome c oxidase assembly protein, COX11 cytochrome c oxidase assembly homolog (yeast)		NA	9878253	Standard	NM_004375	NM_004375	NA	Approved	COX11P	uc010wng.1	Q9Y6N1		ENST00000573912.1:c.306+529G>A	17.37:g.53037950C>T		NA	D3DTY5|Q6FHB7|Q9BRX0|Q9UME8	37		.	.	.	.	.	.	.	.	.	.	C	14.70	2.613557	0.46631	.	.	ENSG00000141198	ENST00000445275;ENST00000540336;ENST00000348161;ENST00000536554	T;T;T	0.26957	1.7;1.8;1.8	6.17	-7.98	0.01135	.	1.077410	0.07116	N	0.843044	T	0.09158	0.0226	N	0.05383	-0.06	0.40731	D	0.982742	B;B;B;B	0.06786	0.0;0.001;0.001;0.001	B;B;B;B	0.06405	0.002;0.001;0.002;0.001	T	0.19451	-1.0305	10	0.17832	T	0.49	0.0588	6.1911	0.20524	0.0929:0.5024:0.1878:0.2169	.	353;458;388;465	B4DUW5;B4E1N0;B7Z9E2;O75674	.;.;.;TM1L1_HUMAN	V	465;353;388;388	ENSP00000441242:A353V;ENSP00000343901:A388V;ENSP00000443099:A388V	ENSP00000343901:A388V	A	+	2	0	TOM1L1	50392949	0.000000	0.05858	0.003000	0.11579	0.723000	0.41478	-3.555000	0.00432	-1.488000	0.01847	-0.345000	0.07892	GCT	COX11-007	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000439178.1		-	ENST00000573912.1	Intron	SNP	17 : 53037950 - 53037950 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	330	14
GABRB1	2560	broad.mit.edu	37	4	47163380	47163380	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47163380C>T	ENST00000295454.3	+	4	647	c.355C>T	c.(355-357)Cca>Tca	p.P119S	GABRB1_ENST00000538619.1_Missense_Mutation_p.P49S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	119					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ACTCTGGGTACCAGACACCTA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	151	152			NA	NA	4		NA											NA				47163380		2203	4300	6503	SO:0001583	missense				CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288	2560	2560		GABA receptors, Ligand-gated ion channels / GABA(A) receptors	4081	protein-coding gene	gene with protein product	GABA(A) receptor, beta 1	137190			NA		Standard		NM_000812	NA	Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.355C>T	4.37:g.47163380C>T	ENSP00000295454:p.Pro119Ser	NA	B2R6U7|Q16166|Q8TBK3	37	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294940	0.81025	.	.	ENSG00000163288	ENST00000513567;ENST00000295454;ENST00000538619	D;D;D	0.98550	-4.99;-4.99;-4.99	5.01	5.01	0.66863	Neurotransmitter-gated ion-channel ligand-binding (3);	0.080817	0.50627	D	0.000119	D	0.99162	0.9710	H	0.95574	3.69	0.58432	D	0.999999	D;P	0.69078	0.997;0.573	D;B	0.70487	0.969;0.334	D	0.98945	1.0792	10	0.87932	D	0	-9.8015	12.9232	0.58245	0.0:0.9191:0.0:0.0809	.	49;119	F5GXV5;P18505	.;GBRB1_HUMAN	S	86;119;49	ENSP00000426753:P86S;ENSP00000295454:P119S;ENSP00000440330:P49S	ENSP00000295454:P119S	P	+	1	0	GABRB1	46858137	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.911000	0.69939	2.611000	0.88343	0.650000	0.86243	CCA	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216896.1		+	ENST00000295454.3	Missense_Mutation	SNP	4 : 47163380 - 47163380 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	833	152
ZBTB34	403341	broad.mit.edu	37	9	129642452	129642452	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129642452C>T	ENST00000319119.4	+	2	859	c.774C>T	c.(772-774)gaC>gaT	p.D258D	ZBTB34_ENST00000373452.2_Silent_p.D254D	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D258D(1)		endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						CCCTGGGTGACGATGGGTACC	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)	upper_aerodigestive_tract(1)											112	119	117			NA	NA	9		NA											NA				129642452		2096	4223	6319	SO:0001819	synonymous_variant			DQ227306	CCDS48023.1	9q33.3	2013-01-08			ENSG00000177125	ENSG00000177125	403341	403341		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	31446	protein-coding gene	gene with protein product		611692			NA	16718364	Standard	NM_001099270	NM_001099270	NA	Approved	KIAA1993, MGC24652, ZNF918	uc004bqm.4	Q8NCN2	OTTHUMG00000020694	ENST00000319119.4:c.774C>T	9.37:g.129642452C>T		NA	Q38IA7|Q5VYE9	37																																																																																				ZBTB34-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000054128.1		+	ENST00000319119.4	Silent	SNP	9 : 129642452 - 129642452 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	610	87
ZFP64	55734	broad.mit.edu	37	20	50782534	50782534	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50782534C>T	ENST00000216923.4	-	3	666	c.317G>A	c.(316-318)gGc>gAc	p.G106D	ZFP64_ENST00000371515.4_Missense_Mutation_p.G104D|ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000346617.4_Intron|ZFP64_ENST00000371518.2_Missense_Mutation_p.G106D|ZFP64_ENST00000361387.2_Missense_Mutation_p.G106D	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						AGTTTGATAGCCATGTTCAAA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	131	136			NA	NA	20		NA											NA				50782534		2203	4300	6503	SO:0001583	missense			AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256	55734	55734		Zinc fingers, C2H2-type	15940	protein-coding gene	gene with protein product			zinc finger protein 338, zinc finger protein 64 homolog (mouse), zinc finger protein 64	ZNF338	NA	9034307	Standard	NM_018197	NM_199427	NA	Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.317G>A	20.37:g.50782534C>T	ENSP00000216923:p.Gly106Asp	NA	Q9NTS7|Q9NVH4	37	CCDS13440.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426445	0.62733	.	.	ENSG00000020256	ENST00000371518;ENST00000361387;ENST00000216923;ENST00000371515;ENST00000371516	T;T;T;T	0.07908	3.25;3.24;3.15;3.15	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000013	T	0.25382	0.0617	L	0.56769	1.78	0.44181	D	0.996993	D;D;P	0.89917	1.0;1.0;0.747	D;D;B	0.91635	0.999;0.999;0.255	T	0.00822	-1.1552	10	0.20046	T	0.44	-34.4146	18.1401	0.89637	0.0:1.0:0.0:0.0	.	104;106;106	Q5JWM1;Q9NPA5;Q9NTW7	.;ZF64A_HUMAN;ZF64B_HUMAN	D	106;106;106;104;106	ENSP00000360573:G106D;ENSP00000355179:G106D;ENSP00000216923:G106D;ENSP00000360570:G104D	ENSP00000216923:G106D	G	-	2	0	ZFP64	50215941	1.000000	0.71417	1.000000	0.80357	0.420000	0.31355	3.755000	0.55197	2.726000	0.93360	0.655000	0.94253	GGC	ZFP64-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079744.1		-	ENST00000216923.4	Missense_Mutation	SNP	20 : 50782534 - 50782534 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	49
PCNXL2	80003	broad.mit.edu	37	1	233134991	233134991	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233134991G>A	ENST00000258229.9	-	31	5697	c.5463C>T	c.(5461-5463)tgC>tgT	p.C1821C	PCNXL2_ENST00000344698.2_Silent_p.C473C	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	NA						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GGGGCTGATCGCAGGAGGAGT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	65	64			NA	NA	1		NA											NA				233134991		1921	4136	6057	SO:0001819	synonymous_variant			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749	80003	80003			8736	protein-coding gene	gene with protein product			pecanex (Drosophila)-like 2		NA	12477932	Standard	NM_014801	NM_014801	NA	Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.5463C>T	1.37:g.233134991G>A		NA	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	37	CCDS44335.1																																																																																			PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092480.3		-	ENST00000258229.9	Silent	SNP	1 : 233134991 - 233134991 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	141	35
LMTK2	22853	broad.mit.edu	37	7	97821797	97821797	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97821797G>T	ENST00000297293.5	+	11	2313	c.2020G>T	c.(2020-2022)Gat>Tat	p.D674Y		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	674					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TTCCAGTTTGGATAACCCCAA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	87	84			NA	NA	7		NA											NA				97821797		2202	4300	6502	SO:0001583	missense			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715	22853	22853			17880	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 100	610989			NA	15005709	Standard	NM_014916	NM_014916	NA	Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.2020G>T	7.37:g.97821797G>T	ENSP00000297293:p.Asp674Tyr	NA	A4D272|Q75MG7|Q9UPS3	37	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.172564	0.57584	.	.	ENSG00000164715	ENST00000297293	T	0.80393	-1.37	5.91	3.1	0.35709	.	0.619197	0.18351	N	0.143894	D	0.82820	0.5120	M	0.64997	1.995	0.09310	N	0.999999	D	0.58620	0.983	P	0.56865	0.808	T	0.72846	-0.4169	10	0.66056	D	0.02	.	6.1036	0.20061	0.2139:0.1357:0.6504:0.0	.	674	Q8IWU2	LMTK2_HUMAN	Y	674	ENSP00000297293:D674Y	ENSP00000297293:D674Y	D	+	1	0	LMTK2	97659733	0.984000	0.35163	0.009000	0.14445	0.988000	0.76386	2.183000	0.42565	0.384000	0.24942	0.655000	0.94253	GAT	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334560.1		+	ENST00000297293.5	Missense_Mutation	SNP	7 : 97821797 - 97821797 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	961	203
STXBP5L	9515	broad.mit.edu	37	3	121132069	121132069	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121132069C>T	ENST00000273666.6	+	25	3356	c.3085C>T	c.(3085-3087)Cga>Tga	p.R1029*	STXBP5L_ENST00000471454.1_Nonsense_Mutation_p.R1005*	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1029					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GAGGATAGCACGAACATTTTG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	149	154			NA	NA	3		NA											NA				121132069		1940	4137	6077	SO:0001587	stop_gained			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087	9515	9515		WD repeat domain containing	30757	protein-coding gene	gene with protein product		609381			NA	10231032, 14767561	Standard		NM_014980	NA	Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.3085C>T	3.37:g.121132069C>T	ENSP00000273666:p.Arg1029*	NA	Q4G1B4|Q6PIC3	37	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	39	7.524871	0.98339	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000471262	.	.	.	6.08	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7142	16.6818	0.85294	0.1308:0.8692:0.0:0.0	.	.	.	.	X	1029;1005;972	.	ENSP00000273666:R1029X	R	+	1	2	STXBP5L	122614759	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.153000	0.50685	1.549000	0.49425	0.591000	0.81541	CGA	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355256.3		+	ENST00000273666.6	Nonsense_Mutation	SNP	3 : 121132069 - 121132069 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	86
ATP13A4	84239	broad.mit.edu	37	3	193166103	193166103	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193166103C>A	ENST00000342695.4	-	18	2366	c.2044G>T	c.(2044-2046)Gac>Tac	p.D682Y	ATP13A4_ENST00000392443.3_Missense_Mutation_p.D663Y	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	682					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AATATCAGGTCTGATTCTACC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	100	102			NA	NA	3		NA											NA				193166103		2203	4300	6503	SO:0001583	missense			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249	84239	84239		ATPases / P-type	25422	protein-coding gene	gene with protein product		609556			NA	14702039, 12975309	Standard	NM_032279	XM_005247829	NA	Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2044G>T	3.37:g.193166103C>A	ENSP00000339182:p.Asp682Tyr	NA	B7WPC7|Q6UY23|Q8N1Q9|Q9H043	37	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271310	0.40194	.	.	ENSG00000127249	ENST00000392443;ENST00000342695	T;T	0.73469	-0.75;-0.75	4.84	2.94	0.34122	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.159265	0.42420	D	0.000704	D	0.88284	0.6395	H	0.95982	3.75	0.80722	D	1	D;D;D	0.65815	0.995;0.993;0.98	D;P;D	0.67900	0.954;0.905;0.943	D	0.87830	0.2644	10	0.59425	D	0.04	-6.681	9.3042	0.37865	0.0:0.8118:0.0:0.1882	.	663;682;682	B7WPN9;Q4VNC1-2;Q4VNC1	.;.;AT134_HUMAN	Y	663;682	ENSP00000376238:D663Y;ENSP00000339182:D682Y	ENSP00000339182:D682Y	D	-	1	0	ATP13A4	194648797	0.966000	0.33281	0.982000	0.44146	0.536000	0.34869	1.632000	0.37102	0.492000	0.27815	-0.355000	0.07637	GAC	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157244.4		-	ENST00000342695.4	Missense_Mutation	SNP	3 : 193166103 - 193166103 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	461	32
SNX21	90203	broad.mit.edu	37	20	44463645	44463645	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44463645C>T	ENST00000372542.1	+	2	622	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W	SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000462307.1_Missense_Mutation_p.R113W|SNX21_ENST00000342644.5_Missense_Mutation_p.R113W|SNX21_ENST00000372541.1_Missense_Mutation_p.R104W|SNX21_ENST00000491381.1_Missense_Mutation_p.R113W			Q969T3	SNX21_HUMAN	sorting nexin family member 21	113					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				GCTCCTGGCGCGGCAGCTGCA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	82	82			NA	NA	20		NA											NA				44463645		2203	4300	6503	SO:0001583	missense			AK095851	CCDS13376.1, CCDS13377.1, CCDS42883.1	20q13.12	2013-01-10	2006-07-24	2006-07-24	ENSG00000124104	ENSG00000124104	90203	90203		Sorting nexins, Tetratricopeptide (TTC) repeat domain containing	16154	protein-coding gene	gene with protein product			chromosome 20 open reading frame 161	C20orf161	NA	12461558, 12459172	Standard	NM_033421	NM_152897	NA	Approved	dJ337O18.4, SNX-L	uc002xpv.1	Q969T3	OTTHUMG00000032624	ENST00000372542.1:c.310C>T	20.37:g.44463645C>T	ENSP00000361620:p.Arg104Trp	NA	Q5JZH6|Q9BR16	37		.	.	.	.	.	.	.	.	.	.	C	16.47	3.132239	0.56828	.	.	ENSG00000124104	ENST00000462307;ENST00000491381;ENST00000342644;ENST00000372542;ENST00000372541;ENST00000372545	T;T;T	0.54866	0.63;0.55;0.64	5.25	2.09	0.27110	.	0.239788	0.33401	N	0.004947	T	0.55401	0.1918	N	0.24115	0.695	0.24096	N	0.995898	D;D;D;D;D;D	0.89917	0.998;0.998;0.99;0.999;1.0;0.999	P;P;P;P;D;P	0.68765	0.809;0.876;0.712;0.809;0.96;0.893	T	0.52917	-0.8511	10	0.87932	D	0	-9.7916	12.2554	0.54621	0.5113:0.4887:0.0:0.0	.	104;104;113;113;113;113	Q5JZH4;Q5JZH3;Q969T3;Q5JZH7;Q05DJ0;Q5JZH5	.;.;SNX21_HUMAN;.;.;.	W	113;113;113;104;104;104	ENSP00000418593:R113W;ENSP00000344586:R113W;ENSP00000361620:R104W	ENSP00000344586:R113W	R	+	1	2	SNX21	43897052	0.979000	0.34478	0.022000	0.16811	0.267000	0.26476	1.715000	0.37971	0.269000	0.21961	0.563000	0.77884	CGG	SNX21-003	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000079527.1		+	ENST00000372542.1	Missense_Mutation	SNP	20 : 44463645 - 44463645 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	723	119
DHX38	9785	broad.mit.edu	37	16	72141387	72141387	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72141387G>A	ENST00000268482.3	+	20	3258	c.2749G>A	c.(2749-2751)Gag>Aag	p.E917K	DHX38_ENST00000536867.1_Missense_Mutation_p.E229K	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	917					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CCCGCCCCCGGAGGACAACAT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(97;711 1442 7855 13832 28836)							NA				0													44	44	44			NA	NA	16		NA											NA				72141387		2198	4300	6498	SO:0001583	missense			AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829	9785	9785		DEAH-boxes	17211	protein-coding gene	gene with protein product		605584	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38	DDX38	NA	9524131, 9039502	Standard	NM_014003	NM_014003	NA	Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.2749G>A	16.37:g.72141387G>A	ENSP00000268482:p.Glu917Lys	NA	D3DWS7|O75212|Q96HN7	37	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043627	0.55003	.	.	ENSG00000140829	ENST00000268482;ENST00000536867	T;T	0.02525	4.26;4.26	5.43	5.43	0.79202	.	0.063541	0.64402	D	0.000007	T	0.03520	0.0101	L	0.28054	0.825	0.58432	D	0.999999	B;B	0.21688	0.049;0.059	B;B	0.17098	0.016;0.017	T	0.56312	-0.8000	10	0.34782	T	0.22	.	19.028	0.92941	0.0:0.0:1.0:0.0	.	229;917	B4DVG8;Q92620	.;PRP16_HUMAN	K	917;229	ENSP00000268482:E917K;ENSP00000437898:E229K	ENSP00000268482:E917K	E	+	1	0	DHX38	70698888	1.000000	0.71417	0.960000	0.40013	0.975000	0.68041	4.590000	0.61013	2.825000	0.97269	0.655000	0.94253	GAG	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269004.3		+	ENST00000268482.3	Missense_Mutation	SNP	16 : 72141387 - 72141387 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	49
GSKIP	51527	broad.mit.edu	37	14	96848753	96848753	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96848753C>T	ENST00000556095.1	+	3	1981	c.169C>T	c.(169-171)Ctg>Ttg	p.L57L	GSKIP_ENST00000438650.1_Silent_p.L57L|GSKIP_ENST00000554182.1_Silent_p.L57L|GSKIP_ENST00000555181.1_Silent_p.L57L	NM_001271904.1	NP_001258833.1			GSK3B interacting protein	NA											NA						CTCGAAAAGCCTGCGGTGTGC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	154	157			NA	NA	14		NA											NA				96848753		2203	4300	6503	SO:0001819	synonymous_variant			AF151044	CCDS32153.1	14q32.2	2012-09-25	2012-09-25	2012-09-25	ENSG00000100744	ENSG00000100744	51527	51527			20343	protein-coding gene	gene with protein product	GSK3beta interaction protein		chromosome 14 open reading frame 129	C14orf129	NA	16981698, 21328310	Standard	NM_016472	NM_001271904	NA	Approved		uc031qqf.1	Q9P0R6	OTTHUMG00000171420	ENST00000556095.1:c.169C>T	14.37:g.96848753C>T		NA		37	CCDS32153.1																																																																																			GSKIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413338.1		+	ENST00000556095.1	Silent	SNP	14 : 96848753 - 96848753 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	526	89
ARHGAP30	257106	broad.mit.edu	37	1	161018943	161018943	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161018943T>G	ENST00000368013.3	-	12	2188	c.1868A>C	c.(1867-1869)aAa>aCa	p.K623T	ARHGAP30_ENST00000368015.1_Missense_Mutation_p.K446T|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.K623T	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	623					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GATTGGGGGTTTAGGTCCCAG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	143	143			NA	NA	1		NA											NA				161018943		2203	4300	6503	SO:0001583	missense			AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517	257106	257106		Rho GTPase activating proteins	27414	protein-coding gene	gene with protein product		614264			NA		Standard	NM_181720	NM_001287602	NA	Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.1868A>C	1.37:g.161018943T>G	ENSP00000356992:p.Lys623Thr	NA	Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	37	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	T	4.850	0.157960	0.09236	.	.	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368015	T;T;T	0.32988	2.98;2.96;1.43	5.18	1.3	0.21679	.	0.402704	0.20863	N	0.084316	T	0.08447	0.0210	M	0.67953	2.075	0.09310	N	1	B;P	0.37276	0.309;0.589	B;B	0.30316	0.058;0.114	T	0.25328	-1.0135	10	0.20046	T	0.44	.	4.0315	0.09711	0.0:0.1361:0.4473:0.4166	.	623;623	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	T	623;623;446	ENSP00000356995:K623T;ENSP00000356992:K623T;ENSP00000356994:K446T	ENSP00000356992:K623T	K	-	2	0	ARHGAP30	159285567	0.017000	0.18338	0.604000	0.28916	0.086000	0.17979	0.109000	0.15417	0.263000	0.21812	0.454000	0.30748	AAA	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077090.2		-	ENST00000368013.3	Missense_Mutation	SNP	1 : 161018943 - 161018943 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1147	41
RYR3	6263	broad.mit.edu	37	15	33855181	33855181	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33855181A>G	ENST00000389232.4	+	11	1186	c.1116A>G	c.(1114-1116)aaA>aaG	p.K372K	RYR3_ENST00000415757.3_Silent_p.K372K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	372	MIR 5.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAGACGCCAAAACTTCCCGCC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	125	126			NA	NA	15		NA											NA				33855181		1872	4105	5977	SO:0001819	synonymous_variant				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838	6263	6263		Ion channels / Ryanodine receptors, EF-hand domain containing	10485	protein-coding gene	gene with protein product		180903			NA	8276408	Standard		NM_001036	NA	Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1116A>G	15.37:g.33855181A>G		NA	O15175|Q15412	37	CCDS45210.1																																																																																			RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417514.1		+	ENST00000389232.4	Silent	SNP	15 : 33855181 - 33855181 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	559	97
LIM2	3982	broad.mit.edu	37	19	51883833	51883833	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51883833C>T	ENST00000221973.3	-	4	554	c.512G>A	c.(511-513)cGc>cAc	p.R171H	LIM2_ENST00000596399.1_Missense_Mutation_p.R129H	NM_030657.3	NP_085915.2	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	129					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		CCCAAAGCGGCGGCCCAGGAA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	105	105			NA	NA	19		NA											NA				51883833		2203	4300	6503	SO:0001583	missense				CCDS12831.1, CCDS59415.1	19q13.4	2008-07-17	2002-08-29			ENSG00000105370	3982	3982			6610	protein-coding gene	gene with protein product		154045	lens intrinsic membrane protein 2 (19kD)		NA	1606837	Standard	NM_030657	NM_030657	NA	Approved	MP19, MP17	uc002pwl.2	P55344		ENST00000221973.3:c.512G>A	19.37:g.51883833C>T	ENSP00000221973:p.Arg171His	NA	Q6B083|Q9BXD0|Q9HAR5	37	CCDS12831.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148262	0.78001	.	.	ENSG00000105370	ENST00000221973	D	0.89196	-2.48	4.73	3.7	0.42460	.	0.069759	0.56097	D	0.000021	D	0.89136	0.6629	L	0.40543	1.245	0.39623	D	0.970065	D;D	0.89917	0.996;1.0	P;D	0.65773	0.888;0.938	D	0.88558	0.3121	10	0.59425	D	0.04	-30.4197	6.3299	0.21264	0.0:0.7947:0.0:0.2053	.	129;171	P55344;P55344-2	LMIP_HUMAN;.	H	171	ENSP00000221973:R171H	ENSP00000221973:R171H	R	-	2	0	LIM2	56575645	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.997000	0.57016	2.178000	0.69098	0.655000	0.94253	CGC	LIM2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464246.1		-	ENST00000221973.3	Missense_Mutation	SNP	19 : 51883833 - 51883833 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1009	191
UBQLN1	29979	broad.mit.edu	37	9	86293476	86293476	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86293476C>A	ENST00000376395.4	-	5	1273	c.750G>T	c.(748-750)gaG>gaT	p.E250D	UBQLN1_ENST00000257468.7_Missense_Mutation_p.E250D	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	250					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TCCTCATCATCTCCTGCATCA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(186;1284 2073 12755 14558 18426)							NA				0													346	357	354			NA	NA	9		NA											NA				86293476		2203	4300	6503	SO:0001583	missense			AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018	29979	29979		Ubiquilin family	12508	protein-coding gene	gene with protein product		605046			NA	9303440, 10807547	Standard	NM_013438	NM_013438	NA	Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.750G>T	9.37:g.86293476C>A	ENSP00000365576:p.Glu250Asp	NA	Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	37	CCDS6663.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339463	0.81911	.	.	ENSG00000135018	ENST00000376395;ENST00000257468;ENST00000529923	T;T;T	0.80653	1.03;1.03;-1.4	5.71	3.31	0.37934	Heat shock chaperonin-binding (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.90072	0.6899	M	0.90977	3.165	0.51767	D	0.999933	D;D	0.89917	1.0;0.996	D;D	0.97110	1.0;0.986	D	0.88817	0.3296	10	0.72032	D	0.01	.	8.5668	0.33545	0.0:0.2121:0.0:0.7879	.	250;250	Q9UMX0-2;Q9UMX0	.;UBQL1_HUMAN	D	250;250;47	ENSP00000365576:E250D;ENSP00000257468:E250D;ENSP00000434194:E47D	ENSP00000257468:E250D	E	-	3	2	UBQLN1	85483296	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.632000	0.37102	0.414000	0.25790	-0.238000	0.12139	GAG	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052834.1		-	ENST00000376395.4	Missense_Mutation	SNP	9 : 86293476 - 86293476 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1946	370
DRD3	1814	broad.mit.edu	37	3	113858410	113858410	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113858410C>A	ENST00000460779.1	-	6	949	c.660G>T	c.(658-660)cgG>cgT	p.R220R	DRD3_ENST00000295881.7_Silent_p.R220R|DRD3_ENST00000467632.1_Silent_p.R220R|DRD3_ENST00000383673.2_Silent_p.R220R	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	220					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GGATCCTTTTCCGTCTCCTTT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													197	192	193			NA	NA	3		NA											NA				113858410		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577	1814	1814		GPCR / Class A : Dopamine receptors	3024	protein-coding gene	gene with protein product		126451			NA	1916765	Standard	NM_000796.3	XM_005247171	NA	Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.660G>T	3.37:g.113858410C>A		NA	A1A4V5|Q4VBM8	37	CCDS2978.1																																																																																			DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354699.1		-	ENST00000460779.1	Silent	SNP	3 : 113858410 - 113858410 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	925	176
MBTPS1	8720	broad.mit.edu	37	16	84132819	84132819	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84132819A>C	ENST00000343411.3	-	3	755	c.260T>G	c.(259-261)aTt>aGt	p.I87S		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	87					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCGAGGTATAATTCTCCAATT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	140	145			NA	NA	16		NA											NA				84132819		2200	4300	6500	SO:0001583	missense			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943	8720	8720			15456	protein-coding gene	gene with protein product		603355	membrane-bound transcription factor protease, site 1		NA	9809072, 10944850	Standard	NM_003791	NM_003791	NA	Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.260T>G	16.37:g.84132819A>C	ENSP00000344223:p.Ile87Ser	NA	Q24JQ2|Q9UF67	37	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.537704	0.85917	.	.	ENSG00000140943	ENST00000343411	T	0.36520	1.25	5.82	5.82	0.92795	.	0.088634	0.85682	D	0.000000	T	0.58466	0.2124	M	0.76838	2.35	0.80722	D	1	D	0.65815	0.995	P	0.59221	0.854	T	0.63959	-0.6519	10	0.87932	D	0	-19.3983	16.1685	0.81786	1.0:0.0:0.0:0.0	.	87	Q14703	MBTP1_HUMAN	S	87	ENSP00000344223:I87S	ENSP00000344223:I87S	I	-	2	0	MBTPS1	82690320	1.000000	0.71417	0.984000	0.44739	0.992000	0.81027	8.870000	0.92336	2.225000	0.72522	0.528000	0.53228	ATT	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269080.2		-	ENST00000343411.3	Missense_Mutation	SNP	16 : 84132819 - 84132819 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	783	136
ENPP5	59084	broad.mit.edu	37	6	46129280	46129280	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46129280A>G	ENST00000371383.2	-	5	1477	c.1217T>C	c.(1216-1218)gTg>gCg	p.V406A	ENPP5_ENST00000230565.3_Missense_Mutation_p.V406A			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	406						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						ATAAGGGACCACCCTTGGCAT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	160	165			NA	NA	6		NA											NA				46129280		2203	4300	6503	SO:0001583	missense			AL035701	CCDS4915.1	6p21.1-p11.2	2010-06-24	2010-06-24		ENSG00000112796	ENSG00000112796	59084	59084			13717	protein-coding gene	gene with protein product					NA	11027689	Standard		XM_005249259	NA	Approved		uc003oxz.1	Q9UJA9	OTTHUMG00000014781	ENST00000371383.2:c.1217T>C	6.37:g.46129280A>G	ENSP00000360436:p.Val406Ala	NA	Q5TFV2|Q6UX49	37	CCDS4915.1	.	.	.	.	.	.	.	.	.	.	a	0.003	-2.432032	0.00184	.	.	ENSG00000112796	ENST00000371383;ENST00000230565	T;T	0.73469	-0.75;-0.75	5.1	-2.1	0.07210	.	6.658910	0.00166	N	0.000000	T	0.15825	0.0381	N	0.00742	-1.23	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13872	-1.0493	10	0.10902	T	0.67	3.9963	6.3607	0.21427	0.3714:0.0:0.5109:0.1177	.	406	Q9UJA9	ENPP5_HUMAN	A	406	ENSP00000360436:V406A;ENSP00000230565:V406A	ENSP00000230565:V406A	V	-	2	0	ENPP5	46237239	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.111000	0.10807	-0.369000	0.08028	-3.486000	0.00034	GTG	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040779.2		-	ENST00000371383.2	Missense_Mutation	SNP	6 : 46129280 - 46129280 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	559	105
RAB3IP	117177	broad.mit.edu	37	12	70149351	70149351	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70149351G>A	ENST00000550536.1	+	2	668	c.211G>A	c.(211-213)Gca>Aca	p.A71T	RAB3IP_ENST00000362025.5_Missense_Mutation_p.A71T|RAB3IP_ENST00000483530.2_Missense_Mutation_p.A55T|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000378815.6_Missense_Mutation_p.A55T|RAB3IP_ENST00000247833.7_Missense_Mutation_p.A55T	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	71					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			ACCTATCCAGGCAAATGCATT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	152	157			NA	NA	12		NA											NA				70149351		2203	4300	6503	SO:0001583	missense				CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328	117177	117177			16508	protein-coding gene	gene with protein product	rabin3	608686			NA		Standard	NM_022456	NM_175623	NA	Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000550536.1:c.211G>A	12.37:g.70149351G>A	ENSP00000447300:p.Ala71Thr	NA	B7WPJ6|Q6PCE4|Q96A24|Q96QE6|Q96QE7|Q96QE8|Q96QE9|Q96QF1|Q9H673	37	CCDS8993.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759935	0.69763	.	.	ENSG00000127328	ENST00000247833;ENST00000378815;ENST00000483530;ENST00000549760;ENST00000550536;ENST00000362025	T;T	0.47869	0.84;0.83	5.93	5.0	0.66597	.	0.258959	0.44688	D	0.000438	T	0.36496	0.0969	N	0.24115	0.695	0.80722	D	1	P;P;P;P	0.38504	0.634;0.546;0.493;0.634	B;B;B;B	0.39258	0.295;0.133;0.295;0.295	T	0.11348	-1.0591	10	0.30854	T	0.27	.	15.3984	0.74816	0.0:0.2576:0.7424:0.0	.	71;71;55;55	Q96QF0-4;Q96QF0;Q96QF0-3;Q96QF0-7	.;RAB3I_HUMAN;.;.	T	55;55;55;55;71;71	ENSP00000247833:A55T;ENSP00000447300:A71T	ENSP00000247833:A55T	A	+	1	0	RAB3IP	68435618	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	2.265000	0.43311	2.814000	0.96858	0.655000	0.94253	GCA	RAB3IP-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280669.2		+	ENST00000550536.1	Missense_Mutation	SNP	12 : 70149351 - 70149351 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	432	10
BRWD1	54014	broad.mit.edu	37	21	40559106	40559106	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40559106C>T	ENST00000333229.2	-	42	7136	c.6809G>A	c.(6808-6810)cGa>cAa	p.R2270Q		NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AGAAGCATTTCGATGGGGCAG	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(170;988 1986 4794 16843 39731)							NA				0													77	80	79			NA	NA	21		NA											NA				40559106		2201	4296	6497	SO:0001583	missense			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658	54014	54014		WD repeat domain containing	12760	protein-coding gene	gene with protein product			chromosome 21 open reading frame 107, WD repeat domain 9	C21orf107, WDR9	NA		Standard	NM_033656	NM_033656	NA	Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.6809G>A	21.37:g.40559106C>T	ENSP00000330753:p.Arg2270Gln	NA	C9JK25|O43721|Q5R2V0|Q5R2V1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	37	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.903770	0.92035	.	.	ENSG00000185658	ENST00000333229	T	0.60299	0.2	5.64	5.64	0.86602	.	0.159818	0.29314	N	0.012508	T	0.70228	0.3200	M	0.68593	2.085	0.80722	D	1	D	0.76494	0.999	P	0.55011	0.766	T	0.72357	-0.4318	10	0.66056	D	0.02	-0.8337	18.2571	0.90023	0.0:1.0:0.0:0.0	.	2270	Q9NSI6	BRWD1_HUMAN	Q	2270	ENSP00000330753:R2270Q	ENSP00000330753:R2270Q	R	-	2	0	BRWD1	39480976	0.635000	0.27199	1.000000	0.80357	0.998000	0.95712	3.262000	0.51538	2.820000	0.97059	0.650000	0.86243	CGA	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000141398.3		-	ENST00000333229.2	Missense_Mutation	SNP	21 : 40559106 - 40559106 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	66
CRTC1	23373	broad.mit.edu	37	19	18885767	18885767	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18885767G>A	ENST00000338797.6	+	13	1556	c.1531G>A	c.(1531-1533)Gcc>Acc	p.A511T	CRTC1_ENST00000601916.1_Intron|CRTC1_ENST00000321949.8_Missense_Mutation_p.A495T|CRTC1_ENST00000594658.1_Missense_Mutation_p.A454T	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	495					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						GCAGATGGCGGCCAGGCAGGC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	74	79			NA	NA	19		NA											NA				18885767		2203	4300	6503	SO:0001583	missense			AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24			23373	23373			16062	protein-coding gene	gene with protein product	transducer of regulated cAMP response element-binding protein	607536	mucoepidermoid carcinoma translocated 1	MECT1	NA	12539049, 14536081, 14506290	Standard	NM_025021	NM_015321	NA	Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000338797.6:c.1531G>A	19.37:g.18885767G>A	ENSP00000345001:p.Ala511Thr	NA	A6NMG5|O75114|Q6Y3A3|Q7LDZ2|Q8IUL3|Q8IZ34|Q8IZL1|Q8N6W3|Q96AI8|Q9H801	37	CCDS42525.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162800	0.38217	.	.	ENSG00000105662	ENST00000338797;ENST00000321949	T;T	0.18016	2.24;2.24	3.28	3.28	0.37604	.	0.523530	0.18511	N	0.139060	T	0.13841	0.0335	L	0.36672	1.1	0.41486	D	0.988191	P;B	0.49090	0.919;0.434	B;B	0.40825	0.341;0.085	T	0.13495	-1.0507	10	0.22109	T	0.4	-19.0374	13.6832	0.62499	0.0:0.0:1.0:0.0	.	511;495	Q6UUV9-2;Q6UUV9	.;CRTC1_HUMAN	T	511;495	ENSP00000345001:A511T;ENSP00000323332:A495T	ENSP00000323332:A495T	A	+	1	0	CRTC1	18746767	1.000000	0.71417	0.989000	0.46669	0.965000	0.64279	5.232000	0.65332	1.679000	0.50963	0.313000	0.20887	GCC	CRTC1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465152.1		+	ENST00000338797.6	Missense_Mutation	SNP	19 : 18885767 - 18885767 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	410	85
DZIP1L	199221	broad.mit.edu	37	3	137787193	137787193	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:137787193G>A	ENST00000327532.2	-	13	1994	c.1632C>T	c.(1630-1632)agC>agT	p.S544S	DZIP1L_ENST00000488595.1_5'UTR	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	544						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						TGACCAGTGTGCTCTGCTGGC	0.562		NA									OREG0015830	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	63	61			NA	NA	3		NA											NA				137787193		2203	4300	6503	SO:0001819	synonymous_variant			AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163	199221	199221			26551	protein-coding gene	gene with protein product			DAZ interacting protein 1-like		NA	12477932	Standard	NM_173543	NM_173543	NA	Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.1632C>T	3.37:g.137787193G>A		1636	C9JUG5|Q96M38	37	CCDS3096.1																																																																																			DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357548.1		-	ENST00000327532.2	Silent	SNP	3 : 137787193 - 137787193 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	362	66
RABGEF1	27342	broad.mit.edu	37	7	66274251	66274251	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66274251C>T	ENST00000284957.5	+	9	1533	c.1456C>T	c.(1456-1458)Cct>Tct	p.P486S	RABGEF1_ENST00000437078.2_Missense_Mutation_p.P500S|KCTD7_ENST00000380828.2_Missense_Mutation_p.P526S|KCTD7_ENST00000451741.2_Missense_Mutation_p.P486S|RABGEF1_ENST00000450873.2_Missense_Mutation_p.P486S|RABGEF1_ENST00000439720.2_Missense_Mutation_p.P499S|KCTD7_ENST00000510829.2_Missense_Mutation_p.P486S|RABGEF1_ENST00000484547.2_3'UTR			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	703	VPS9.				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						ACCACTGCAACCTCAAGTTTA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	50	50			NA	NA	7		NA											NA				66274251		2203	4300	6503	SO:0001583	missense			AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710	27342	27342			17676	protein-coding gene	gene with protein product		609700			NA	12505986, 11098082	Standard	NM_014504	NM_014504	NA	Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.1456C>T	7.37:g.66274251C>T	ENSP00000284957:p.Pro486Ser	NA	Q3HKR2|Q3HKR3|Q53FG0	37	CCDS5535.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955184	0.92726	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000539561;ENST00000284957;ENST00000450873;ENST00000439720;ENST00000437078	T;T;T;T;T;T;T	0.69561	-0.41;-0.09;-0.09;-0.09;-0.09;-0.2;-0.21	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.81182	0.4769	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.987	T	0.81464	-0.0921	10	0.72032	D	0.01	-21.9137	19.2161	0.93778	0.0:1.0:0.0:0.0	.	500;320;703	B4DZM7;B3KMF1;Q9UJ41	.;.;RABX5_HUMAN	S	570;526;486;486;402;486;486;499;500	ENSP00000370208:P526S;ENSP00000421124:P486S;ENSP00000398177:P486S;ENSP00000284957:P486S;ENSP00000415815:P486S;ENSP00000403429:P499S;ENSP00000390480:P500S	ENSP00000370207:P570S	P	+	1	0	RABGEF1;KCTD7	65911686	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.288000	0.78691	2.778000	0.95560	0.655000	0.94253	CCT	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251737.3		+	ENST00000284957.5	Missense_Mutation	SNP	7 : 66274251 - 66274251 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	399	60
VPS39	23339	broad.mit.edu	37	15	42458803	42458803	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42458803G>A	ENST00000318006.5	-	15	1726	c.1564C>T	c.(1564-1566)Ctg>Ttg	p.L522L	VPS39_ENST00000348544.4_Silent_p.L533L	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	533					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TGGCCTTTCAGAGGGGAGTTG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	87	89			NA	NA	15		NA											NA				42458803		2203	4299	6502	SO:0001819	synonymous_variant			AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887	23339	23339			20593	protein-coding gene	gene with protein product		612188	vacuolar protein sorting 39 (yeast)		NA	11448994	Standard	NM_015289	XM_005254259	NA	Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000318006.5:c.1564C>T	15.37:g.42458803G>A		NA	O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	37	CCDS10083.1																																																																																			VPS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252861.1		-	ENST00000318006.5	Silent	SNP	15 : 42458803 - 42458803 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	55
PRSS21	10942	broad.mit.edu	37	16	2867430	2867430	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2867430G>A	ENST00000450020.3	+	2	153		c.e2-1		PRSS21_ENST00000455114.1_Splice_Site|PRSS21_ENST00000005995.3_Splice_Site	NM_144957.2	NP_659206.1	Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	NA					proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						GTCTCCCGCAGAGTCGCAGGA	0.741		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													9	9	9			NA	NA	16		NA											NA				2867430		1961	3915	5876	SO:0001630	splice_region_variant			AF058300	CCDS10478.1, CCDS45388.1	16p13.3	2010-05-07			ENSG00000007038	ENSG00000007038	10942	10942		Serine peptidases / Serine peptidases	9485	protein-coding gene	gene with protein product		608159			NA	10397266, 9826525	Standard	NM_006799	NM_006799	NA	Approved	ESP-1, TEST1, TESTISIN	uc002crt.4	Q9Y6M0	OTTHUMG00000128931	ENST00000450020.3:c.65-1G>A	16.37:g.2867430G>A		NA	Q9NS34|Q9P2V6	37	CCDS45388.1	.	.	.	.	.	.	.	.	.	.	g	10.93	1.490727	0.26686	.	.	ENSG00000007038	ENST00000455114;ENST00000450020;ENST00000005995	.	.	.	3.33	3.33	0.38152	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8718	0.46887	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRSS21	2807431	0.006000	0.16342	0.024000	0.17045	0.013000	0.08279	0.630000	0.24553	1.800000	0.52685	0.401000	0.26515	.	PRSS21-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000436451.1	Intron	+	ENST00000450020.3	Splice_Site	SNP	16 : 2867430 - 2867430 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	140	18
MYLK	4638	broad.mit.edu	37	3	123411611	123411611	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123411611G>A	ENST00000360772.3	-	20	3914	c.3536C>T	c.(3535-3537)gCg>gTg	p.A1179V	MYLK_ENST00000475616.1_Missense_Mutation_p.A1179V|MYLK_ENST00000510775.1_5'UTR|MYLK_ENST00000346322.5_Missense_Mutation_p.A1110V|MYLK_ENST00000360304.3_Missense_Mutation_p.A1179V|MYLK_ENST00000359169.1_Missense_Mutation_p.A1179V			Q15746	MYLK_HUMAN	myosin light chain kinase	1179	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 7.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGAGCACTCCGCCTGGCCAGC	0.602		NA											G	40	0.02	0.03	0.0028	2184	0.02	0.9935	,	,	NA	0.0179	0.02	NA	NA	0.0199	0.8755	LOWCOV	NA	NA	3e-04	SNP								NA				0													94	71	79			NA	NA	3		NA											NA				123411611		2203	4300	6503	SO:0001583	missense			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	4638	4638	2.7.11.18	Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	7590	protein-coding gene	gene with protein product	smooth muscle myosin light chain kinase	600922	myosin, light polypeptide kinase		NA	8575746	Standard	NM_053025	NM_053026	NA	Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000360772.3:c.3536C>T	3.37:g.123411611G>A	ENSP00000354004:p.Ala1179Val	NA	O95796|O95797|O95798|O95799|Q14844|Q16794|Q5MY99|Q5MYA0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UIT9	37	CCDS3023.1	40	0.018315018315018316	14	0.028455284552845527	1	0.0027624309392265192	11	0.019230769230769232	14	0.018469656992084433	G	32	5.185768	0.94885	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.03	5.03	0.67393	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51635	0.1686	L	0.54908	1.71	0.80722	D	1	D;D;D;D;D;D	0.69078	0.995;0.991;0.992;0.997;0.997;0.996	P;P;P;P;D;D	0.65874	0.857;0.639;0.704;0.857;0.939;0.932	T	0.62886	-0.6759	9	0.07813	T	0.8	.	15.8618	0.79032	0.0:0.0:1.0:0.0	.	1179;257;1110;1179;1110;1179	Q15746-6;Q15746-7;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;MYLK_HUMAN	V	1179;1179;1179;1110;1179	ENSP00000354004:A1179V;ENSP00000353452:A1179V;ENSP00000352088:A1179V;ENSP00000320622:A1110V;ENSP00000418335:A1179V	ENSP00000320622:A1110V	A	-	2	0	MYLK	124894301	1.000000	0.71417	0.977000	0.42913	0.967000	0.64934	6.439000	0.73430	2.514000	0.84764	0.563000	0.77884	GCG	MYLK-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280599.2		-	ENST00000360772.3	Missense_Mutation	SNP	3 : 123411611 - 123411611 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	377	70
POLR1A	25885	broad.mit.edu	37	2	86281383	86281383	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86281383G>T	ENST00000263857.6	-	15	2466	c.2088C>A	c.(2086-2088)atC>atA	p.I696I	POLR1A_ENST00000483538.1_5'UTR|POLR1A_ENST00000409681.1_Silent_p.I696I			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	696					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GGTCCTCTGGGATTATATTTA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	98	98			NA	NA	2		NA											NA				86281383		1917	4140	6057	SO:0001819	synonymous_variant			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654	25885	25885		RNA polymerase subunits	17264	protein-coding gene	gene with protein product					NA	9236775	Standard	NM_015425	NM_015425	NA	Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.2088C>A	2.37:g.86281383G>T		NA	B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	37	CCDS42706.1																																																																																			POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329830.2		-	ENST00000263857.6	Silent	SNP	2 : 86281383 - 86281383 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	214	48
DUS1L	64118	broad.mit.edu	37	17	80021381	80021381	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80021381G>T	ENST00000354321.7	-	3	845	c.360C>A	c.(358-360)gcC>gcA	p.A120A	DUS1L_ENST00000306796.5_Silent_p.A120A			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	120					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CCTGCAGAAAGGCGCCATAGT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	153	161			NA	NA	17		NA											NA				80021381		2203	4300	6503	SO:0001819	synonymous_variant				CCDS32775.1	17q25.3	2005-08-09				ENSG00000169718	64118	64118			30086	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_022156	NM_022156	NA	Approved	PP3111, DUS1	uc002kdr.4	Q6P1R4		ENST00000354321.7:c.360C>A	17.37:g.80021381G>T		NA	A6NHV4|Q96AI3	37	CCDS32775.1																																																																																			DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442347.1		-	ENST00000354321.7	Silent	SNP	17 : 80021381 - 80021381 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	990	79
NIPAL2	79815	broad.mit.edu	37	8	99207043	99207043	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99207043G>A	ENST00000341166.3	-	10	1207	c.952C>T	c.(952-954)Ctg>Ttg	p.L318L	NIPAL2_ENST00000520545.1_5'UTR|NIPAL2_ENST00000430223.2_Silent_p.L318L	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	318						integral to membrane				cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						AGGAATGACAGAAAACACCTG	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	39	39			NA	NA	8		NA											NA				99207043		2201	4293	6494	SO:0001819	synonymous_variant			AK024017	CCDS6278.1	8q22.2	2009-03-24		2009-03-24	ENSG00000104361	ENSG00000104361	79815	79815			25854	protein-coding gene	gene with protein product				NPAL2	NA	14702039	Standard	NM_024759	NM_024759	NA	Approved	FLJ13955	uc003yil.1	Q9H841	OTTHUMG00000164668	ENST00000341166.3:c.952C>T	8.37:g.99207043G>A		NA		37	CCDS6278.1																																																																																			NIPAL2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379677.1		-	ENST00000341166.3	Silent	SNP	8 : 99207043 - 99207043 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	127	21
DNAH17	8632	broad.mit.edu	37	17	76450748	76450748	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76450748G>T	ENST00000585328.1	-	64	10319	c.10195C>A	c.(10195-10197)Ctg>Atg	p.L3399M	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.L3390M	NM_173628.3	NP_775899.3			dynein, axonemal, heavy chain 17	NA										NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCTGTCAGCAGGCTCAAGGGA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	76	81			NA	NA	17		NA											NA				76450748		2203	4300	6503	SO:0001583	missense			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775	8632	8632		Axonemal dyneins	2946	protein-coding gene	gene with protein product		610063	dynein, axonemal, heavy polypeptide 17, dynein, axonemal, heavy chain like 1, dynein, axonemal, heavy like 1	DNAHL1	NA	9545504	Standard	NM_173628	NM_173628	NA	Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.10195C>A	17.37:g.76450748G>T	ENSP00000465516:p.Leu3399Met	NA		37		.	.	.	.	.	.	.	.	.	.	G	4.642	0.119399	0.08881	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.25579	1.79	5.21	4.23	0.50019	.	0.000000	0.48767	D	0.000175	T	0.13072	0.0317	N	0.10707	0.03	0.35803	D	0.823276	B	0.23937	0.094	B	0.31390	0.129	T	0.12708	-1.0537	10	0.05721	T	0.95	.	12.8723	0.57972	0.0:0.0:0.7035:0.2965	.	3399	E7EUM8	.	M	3399;3390	ENSP00000374490:L3390M	ENSP00000300671:L3399M	L	-	1	2	DNAH17	73962343	1.000000	0.71417	0.939000	0.37840	0.970000	0.65996	1.531000	0.36018	1.152000	0.42452	0.655000	0.94253	CTG	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000318962.2		-	ENST00000585328.1	Missense_Mutation	SNP	17 : 76450748 - 76450748 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	62
FBN1	2200	broad.mit.edu	37	15	48760266	48760266	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48760266C>T	ENST00000316623.5	-	38	5071	c.4616G>A	c.(4615-4617)cGa>cAa	p.R1539Q		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1539	TB 6.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.R1539Q(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCCTCGAGGTCGAATATCCAA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											107	105	106			NA	NA	15		NA											NA				48760266		2198	4296	6494	SO:0001583	missense			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147	2200	2200			3603	protein-coding gene	gene with protein product	Marfan syndrome	134797	fibrillin 1 (Marfan syndrome)	FBN, MFS1, WMS	NA	10036187, 12525539	Standard		NM_000138	NA	Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.4616G>A	15.37:g.48760266C>T	ENSP00000325527:p.Arg1539Gln	NA	B2RUU0|Q15972|Q75N87	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	8.479	0.859345	0.17178	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.94330	-3.4	5.14	5.14	0.70334	Matrix fibril-associated (2);TGF-beta binding (1);	0.377581	0.28109	N	0.016571	T	0.75027	0.3794	N	0.01168	-0.975	0.20638	N	0.999871	B	0.30104	0.268	B	0.12156	0.007	T	0.65721	-0.6099	10	0.13108	T	0.6	.	6.5554	0.22458	0.0:0.7894:0.0:0.2106	.	1539	P35555	FBN1_HUMAN	Q	1539;107;429	ENSP00000325527:R1539Q	ENSP00000325527:R1539Q	R	-	2	0	FBN1	46547558	0.379000	0.25123	0.843000	0.33291	0.973000	0.67179	0.989000	0.29629	2.684000	0.91462	0.650000	0.86243	CGA	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417355.1		-	ENST00000316623.5	Missense_Mutation	SNP	15 : 48760266 - 48760266 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	489	93
ROBO3	64221	broad.mit.edu	37	11	124740119	124740119	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124740119G>A	ENST00000397801.1	+	5	1017	c.825G>A	c.(823-825)gtG>gtA	p.V275V	ROBO3_ENST00000538940.1_Silent_p.V253V	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	275	Ig-like C2-type 3.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		ATGCCCCTGTGACTTTCCTAT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	102	102			NA	NA	11		NA											NA				124740119		2033	4181	6214	SO:0001819	synonymous_variant			AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134	64221	64221		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	13433	protein-coding gene	gene with protein product		608630	roundabout (axon guidance receptor, Drosophila) homolog 3, horizontal gaze palsy with progressive scoliosis	HGPPS	NA	15105459	Standard	XM_370663	NM_022370	NA	Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.825G>A	11.37:g.124740119G>A		NA		37	CCDS44755.1																																																																																			ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387091.1		+	ENST00000397801.1	Silent	SNP	11 : 124740119 - 124740119 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	376	71
ILF3	3609	broad.mit.edu	37	19	10794144	10794144	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10794144C>T	ENST00000592763.1	+	14	1789	c.1789C>T	c.(1789-1791)Cct>Tct	p.P597S	ILF3_ENST00000589998.1_Missense_Mutation_p.P593S|ILF3_ENST00000590261.1_Missense_Mutation_p.P593S|ILF3_ENST00000420083.1_Missense_Mutation_p.P593S|ILF3_ENST00000407004.3_Missense_Mutation_p.P597S|ILF3_ENST00000588657.1_Missense_Mutation_p.P597S|ILF3_ENST00000449870.1_Missense_Mutation_p.P597S|ILF3_ENST00000250241.8_Missense_Mutation_p.P593S|ILF3_ENST00000318511.3_Missense_Mutation_p.P593S			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	593					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CCCTGACACCCCTCTCGCCCT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	78	77			NA	NA	19		NA											NA				10794144		2203	4300	6503	SO:0001583	missense			U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351	3609	3609			6038	protein-coding gene	gene with protein product	M-phase phosphoprotein 4	603182	interleukin enhancer binding factor 3, 90kD		NA	7519613, 8885239	Standard		NM_012218	NA	Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000592763.1:c.1789C>T	19.37:g.10794144C>T	ENSP00000465515:p.Pro597Ser	NA	A8K6F2|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	37		.	.	.	.	.	.	.	.	.	.	C	11.76	1.734553	0.30774	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.15952	2.44;2.44;2.38;2.38;2.38	5.75	4.7	0.59300	.	0.255835	0.39909	N	0.001228	T	0.09113	0.0225	N	0.08118	0	0.18873	N	0.999988	B;B;B;B;B;B	0.29136	0.041;0.234;0.15;0.008;0.012;0.001	B;B;B;B;B;B	0.20184	0.008;0.028;0.012;0.006;0.019;0.004	T	0.21211	-1.0252	10	0.46703	T	0.11	.	12.7548	0.57328	0.2987:0.7013:0.0:0.0	.	597;597;593;597;593;593	Q12906-4;G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;.;ILF3_HUMAN;.;.;.	S	593;597;593;593;597;593	ENSP00000404121:P597S;ENSP00000315205:P593S;ENSP00000405436:P593S;ENSP00000384660:P597S;ENSP00000250241:P593S	ENSP00000250241:P593S	P	+	1	0	ILF3	10655144	0.514000	0.26202	0.159000	0.22649	0.987000	0.75469	2.167000	0.42415	1.398000	0.46701	0.591000	0.81541	CCT	ILF3-004	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000452072.1		+	ENST00000592763.1	Missense_Mutation	SNP	19 : 10794144 - 10794144 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	438	36
GARS	2617	broad.mit.edu	37	7	30638502	30638502	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30638502C>A	ENST00000389266.3	+	2	554	c.313C>A	c.(313-315)Ctg>Atg	p.L105M		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	105	WHEP-TRS.				cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	CAAGAGGGTTCTGGAAGCAAA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	58	57			NA	NA	7		NA											NA				30638502		1878	4097	5975	SO:0001583	missense			AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	2617	2617	6.1.1.14	Aminoacyl tRNA synthetases / Class II	4162	protein-coding gene	gene with protein product	glycine tRNA ligase	600287	Charcot-Marie-Tooth neuropathy 2D	CMT2D	NA	8595897, 8872480	Standard	NM_002047	NM_002047	NA	Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.313C>A	7.37:g.30638502C>A	ENSP00000373918:p.Leu105Met	NA	B3KQA2|B4DIA0|Q969Y1	37	CCDS43564.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276056	0.59649	.	.	ENSG00000106105	ENST00000389266	T	0.43688	0.94	5.29	3.46	0.39613	WHEP-TRS (2);S15/NS1, RNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.65533	0.2700	M	0.91300	3.195	0.58432	D	0.999999	D	0.59767	0.986	D	0.64877	0.93	T	0.70142	-0.4953	10	0.59425	D	0.04	-11.9529	8.6872	0.34245	0.0:0.8139:0.0:0.1861	.	105	P41250	SYG_HUMAN	M	105	ENSP00000373918:L105M	ENSP00000373918:L105M	L	+	1	2	GARS	30605027	0.963000	0.33076	0.999000	0.59377	0.993000	0.82548	2.229000	0.42990	1.396000	0.46663	0.655000	0.94253	CTG	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327735.1		+	ENST00000389266.3	Missense_Mutation	SNP	7 : 30638502 - 30638502 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	171	35
MYL2	4633	broad.mit.edu	37	12	111348974	111348974	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111348974G>A	ENST00000228841.8	-	7	455	c.408C>T	c.(406-408)gaC>gaT	p.D136D	MYL2_ENST00000548438.1_Silent_p.D122D	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	136	EF-hand 3.				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						CGAACATCTGGTCAACCTGCA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(14;268 426 18829 21617 25540)							NA				0													125	108	114			NA	NA	12		NA											NA				111348974		2203	4300	6503	SO:0001819	synonymous_variant				CCDS31901.1	12q24.11	2014-09-17	2006-09-29		ENSG00000111245	ENSG00000111245	4633	4633		Myosins / Light chain, EF-hand domain containing	7583	protein-coding gene	gene with protein product	cardiac ventricular myosin light chain 2	160781	myosin, light polypeptide 2, regulatory, cardiac, slow		NA	1386340	Standard	NM_000432	NM_000432	NA	Approved	CMH10	uc001try.4	P10916	OTTHUMG00000169535	ENST00000228841.8:c.408C>T	12.37:g.111348974G>A		NA	Q16123	37	CCDS31901.1																																																																																			MYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404677.2		-	ENST00000228841.8	Silent	SNP	12 : 111348974 - 111348974 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	662	20
NOBOX	135935	broad.mit.edu	37	7	144097306	144097306	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:144097306C>T	ENST00000467773.1	-	5	943	c.944G>A	c.(943-945)cGc>cAc	p.R315H	NOBOX_ENST00000483238.1_Missense_Mutation_p.R315H|NOBOX_ENST00000223140.5_Missense_Mutation_p.R230H	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	315					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					TACCATGATGCGCTGGGGGGT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG	2,3832		0,2,1915	62	62	62		944	5.7	1	7		62	1,8233		0,1,4116	yes	missense	NOBOX	NM_001080413.3	29	0,3,6031	TT,TC,CC	NA	0.0121,0.0522,0.0249	probably-damaging	315/692	144097306	3,12065	1917	4117	6034	SO:0001583	missense					7q35	2011-06-20			ENSG00000106410	ENSG00000106410	135935	135935		Homeoboxes / PRD class	22448	protein-coding gene	gene with protein product	newborn ovary homeobox-encoding gene	610934			NA	11804785, 16597639	Standard	XM_001134420	NM_001080413	NA	Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.944G>A	7.37:g.144097306C>T	ENSP00000419457:p.Arg315His	NA	A6NCD3|A8MZN5	37		.	.	.	.	.	.	.	.	.	.	C	23.6	4.433226	0.83776	5.22E-4	1.21E-4	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140;ENST00000555556	D;D;D	0.96459	-4.02;-4.02;-4.02	5.68	5.68	0.88126	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.066452	0.53938	D	0.000057	D	0.98169	0.9395	M	0.83603	2.65	0.43930	D	0.996589	D	0.89917	1.0	D	0.97110	1.0	D	0.98931	1.0787	10	0.87932	D	0	-27.6213	17.2787	0.87122	0.0:1.0:0.0:0.0	.	315	O60393	NOBOX_HUMAN	H	315;315;230;104	ENSP00000419565:R315H;ENSP00000419457:R315H;ENSP00000223140:R230H	ENSP00000223140:R230H	R	-	2	0	NOBOX	143728239	1.000000	0.71417	0.999000	0.59377	0.721000	0.41392	5.277000	0.65586	2.671000	0.90904	0.650000	0.86243	CGC	NOBOX-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000350095.1		-	ENST00000467773.1	Missense_Mutation	SNP	7 : 144097306 - 144097306 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	403	73
EGR2	1959	broad.mit.edu	37	10	64573870	64573870	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64573870G>T	ENST00000242480.3	-	2	853	c.528C>A	c.(526-528)ggC>ggA	p.G176G	EGR2_ENST00000439032.1_Silent_p.G176G|EGR2_ENST00000411732.1_Silent_p.G126G	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	176					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					CTCCTGCACAGCCAGAATAAG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	82	81			NA	NA	10		NA											NA				64573870		2203	4300	6503	SO:0001819	synonymous_variant			BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877	1959	1959		Zinc fingers, C2H2-type	3239	protein-coding gene	gene with protein product	Krox-20 homolog, Drosophila	129010	early growth response 2 (Krox-20 homolog, Drosophila)	KROX20	NA		Standard	NM_000399	NM_000399	NA	Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.528C>A	10.37:g.64573870G>T		NA	B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	37	CCDS7267.1																																																																																			EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048245.2		-	ENST00000242480.3	Silent	SNP	10 : 64573870 - 64573870 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	578	122
OR8J1	219477	broad.mit.edu	37	11	56127922	56127922	+	Missense_Mutation	SNP	C	C	T	rs147013138		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56127922C>T	ENST00000303039.3	+	1	232	c.200C>T	c.(199-201)gCt>gTt	p.A67V		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					CAACATCTGGCTCTCATTAAT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	VAL/ALA	1,4401	2.1+/-5.4	0,1,2200	171	153	159		200	4.6	0.5	11	dbSNP_134	159	0,8592		0,0,4296	no	missense	OR8J1	NM_001005205.2	64	0,1,6496	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging	67/317	56127922	1,12993	2201	4296	6497	SO:0001583	missense			AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487	219477	219477		GPCR / Class A : Olfactory receptors	14855	protein-coding gene	gene with protein product					NA		Standard	NM_001005205	NM_001005205	NA	Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.200C>T	11.37:g.56127922C>T	ENSP00000304060:p.Ala67Val	NA	B2RNQ6|B9EH63|Q6IFC2|Q96RC3	37	CCDS31529.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068390	0.36470	2.27E-4	0.0	ENSG00000172487	ENST00000303039	T	0.03152	4.03	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000008	T	0.14570	0.0352	M	0.92738	3.34	0.09310	N	1	P	0.51351	0.944	P	0.48770	0.589	T	0.15723	-1.0427	10	0.87932	D	0	.	12.2274	0.54468	0.0:0.8277:0.1723:0.0	.	67	Q8NGP2	OR8J1_HUMAN	V	67	ENSP00000304060:A67V	ENSP00000304060:A67V	A	+	2	0	OR8J1	55884498	0.000000	0.05858	0.485000	0.27403	0.092000	0.18411	1.193000	0.32162	2.255000	0.74692	0.643000	0.83706	GCT	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391606.2		+	ENST00000303039.3	Missense_Mutation	SNP	11 : 56127922 - 56127922 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	674	137
OR51B5	282763	broad.mit.edu	37	11	5364599	5364599	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5364599A>G	ENST00000300773.2	-	1	210	c.156T>C	c.(154-156)aaT>aaC	p.N52N	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTCATGAAGATTGTGATCTT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	71	69			NA	NA	11		NA											NA				5364599		2201	4297	6498	SO:0001819	synonymous_variant			BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180	282763	282763		GPCR / Class A : Olfactory receptors	19599	protein-coding gene	gene with protein product					NA		Standard	NM_001005567	NM_001005567	NA	Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.156T>C	11.37:g.5364599A>G		NA	B2RN59	37	CCDS31378.1																																																																																			OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000142975.1		-	ENST00000300773.2	Silent	SNP	11 : 5364599 - 5364599 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	338	70
PHTF2	57157	broad.mit.edu	37	7	77569467	77569467	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77569467G>T	ENST00000307305.8	+	12	1676	c.1474G>T	c.(1474-1476)Gca>Tca	p.A492S	PHTF2_ENST00000416283.2_Missense_Mutation_p.A496S|PHTF2_ENST00000275575.7_Missense_Mutation_p.A492S|PHTF2_ENST00000422959.2_Missense_Mutation_p.A496S|PHTF2_ENST00000424760.1_Missense_Mutation_p.A492S|PHTF2_ENST00000248550.7_Missense_Mutation_p.A530S	NM_001127358.1	NP_001120830.1	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						ACAACTCACAGCACATTCTGC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	109	112			NA	NA	7		NA											NA				77569467		1871	4107	5978	SO:0001583	missense			AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576	57157	57157			13411	protein-coding gene	gene with protein product					NA	10729229	Standard	NM_020432	NM_020432	NA	Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000307305.8:c.1474G>T	7.37:g.77569467G>T	ENSP00000307699:p.Ala492Ser	NA	A0JP04|A0JP05|A4D1C2|Q9H099	37	CCDS47622.1	.	.	.	.	.	.	.	.	.	.	G	3.126	-0.179508	0.06380	.	.	ENSG00000006576	ENST00000427986;ENST00000422959;ENST00000307305;ENST00000424760;ENST00000275575;ENST00000416283;ENST00000248550	.	.	.	5.67	-0.561	0.11785	.	0.372810	0.28082	N	0.016665	T	0.17023	0.0409	N	0.08118	0	0.24462	N	0.994431	B;B;B;B;B;B	0.12630	0.004;0.005;0.006;0.003;0.001;0.0	B;B;B;B;B;B	0.13407	0.002;0.007;0.009;0.003;0.002;0.001	T	0.32587	-0.9901	9	0.02654	T	1	-2.4148	11.3773	0.49735	0.5221:0.0:0.4779:0.0	.	291;492;496;530;492;492	Q8WVD6;Q8N3S3-4;Q8N3S3-2;Q8N3S3;Q8N3S3-3;B3KQZ2	.;.;.;PHTF2_HUMAN;.;.	S	496;496;492;492;492;496;530	.	ENSP00000248550:A530S	A	+	1	0	PHTF2	77407403	0.888000	0.30383	0.969000	0.41365	0.995000	0.86356	0.168000	0.16622	-0.147000	0.11254	0.557000	0.71058	GCA	PHTF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344297.1		+	ENST00000307305.8	Missense_Mutation	SNP	7 : 77569467 - 77569467 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	244	42
ZNF407	55628	broad.mit.edu	37	18	72775354	72775354	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72775354C>T	ENST00000299687.5	+	8	5677	c.5677C>T	c.(5677-5679)Ctg>Ttg	p.L1893L		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1893					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GCTGCAGACGCTGGCCATGGC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													10	14	12			NA	NA	18		NA											NA				72775354		2077	4188	6265	SO:0001819	synonymous_variant			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421	55628	55628		Zinc fingers, C2H2-type	19904	protein-coding gene	gene with protein product		615894			NA	11214970	Standard	NM_017757	NM_017757	NA	Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5677C>T	18.37:g.72775354C>T		NA	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	37	CCDS45885.1																																																																																			ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444903.1		+	ENST00000299687.5	Silent	SNP	18 : 72775354 - 72775354 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	147	17
GPR141	353345	broad.mit.edu	37	7	37780137	37780137	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:37780137C>T	ENST00000447769.1	+	4	431	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.R48W			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	48						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R48R(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AATGAACACCCGGTCAGTGAC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	lung(1)											101	104	103			NA	NA	7		NA											NA				37780137		2203	4300	6503	SO:0001583	missense			AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037	353345	353345		GPCR / Class A : Orphans	19997	protein-coding gene	gene with protein product		609045			NA	12679517, 14623098	Standard	NM_181791	NM_181791	NA	Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.142C>T	7.37:g.37780137C>T	ENSP00000390410:p.Arg48Trp	NA	A4D1X7|Q0VAR5|Q86SP3	37	CCDS5451.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.346981	0.41599	.	.	ENSG00000187037	ENST00000450180;ENST00000447769;ENST00000334425	T;T;T	0.45276	0.9;0.9;0.9	5.18	3.17	0.36434	GPCR, rhodopsin-like superfamily (1);	0.403678	0.24384	N	0.038998	T	0.33818	0.0876	M	0.68952	2.095	0.09310	N	1	P	0.49090	0.919	B	0.37833	0.259	T	0.24728	-1.0152	10	0.30854	T	0.27	-16.3663	7.0848	0.25252	0.3405:0.5746:0.0:0.0849	.	48	Q7Z602	GP141_HUMAN	W	48	ENSP00000396300:R48W;ENSP00000390410:R48W;ENSP00000334540:R48W	ENSP00000334540:R48W	R	+	1	2	GPR141	37746662	0.010000	0.17322	0.979000	0.43373	0.993000	0.82548	0.413000	0.21148	1.249000	0.43950	0.650000	0.86243	CGG	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219943.2		+	ENST00000447769.1	Missense_Mutation	SNP	7 : 37780137 - 37780137 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	431	14
HTR3A	3359	broad.mit.edu	37	11	113853894	113853894	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113853894G>A	ENST00000504030.2	+	5	872	c.427G>A	c.(427-429)Ggc>Agc	p.G143S	HTR3A_ENST00000299961.5_Missense_Mutation_p.G128S|HTR3A_ENST00000506841.2_Missense_Mutation_p.G143S|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000375498.2_Missense_Mutation_p.G149S|HTR3A_ENST00000355556.2_Missense_Mutation_p.G149S			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	143					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TCGGCATCAAGGCGAAGTTCA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													182	161	168			NA	NA	11		NA											NA				113853894		2201	4296	6497	SO:0001583	missense			D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03				3359	3359		5-HT (serotonin) receptors, Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic	5297	protein-coding gene	gene with protein product		182139	5-hydroxytryptamine (serotonin) receptor 3A	HTR3	NA	8530095, 12867984	Standard	NM_000869	NM_000869	NA	Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.427G>A	11.37:g.113853894G>A	ENSP00000424189:p.Gly143Ser	NA	O60854|Q99918|Q9BSZ9	37		.	.	.	.	.	.	.	.	.	.	G	23.1	4.378457	0.82682	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000299961	D;D;D;D;D	0.97352	-4.35;-4.35;-4.35;-4.35;-4.35	5.39	4.48	0.54585	.	0.000000	0.85682	D	0.000000	D	0.98855	0.9613	H	0.95712	3.71	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99391	1.0925	10	0.72032	D	0.01	-21.8271	14.2487	0.66004	0.0721:0.0:0.9279:0.0	.	128;149;149	B4DSY6;G5E986;Q7KZM7	.;.;.	S	143;149;149;143;128	ENSP00000424189:G143S;ENSP00000347754:G149S;ENSP00000364648:G149S;ENSP00000424776:G143S;ENSP00000299961:G128S	ENSP00000299961:G128S	G	+	1	0	HTR3A	113359104	1.000000	0.71417	0.035000	0.18076	0.571000	0.35966	9.809000	0.99208	1.278000	0.44430	0.555000	0.69702	GGC	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000360822.2		+	ENST00000504030.2	Missense_Mutation	SNP	11 : 113853894 - 113853894 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	778	155
ST7L	54879	broad.mit.edu	37	1	113098550	113098550	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113098550G>T	ENST00000358039.4	-	12	1640	c.1336C>A	c.(1336-1338)Ctt>Att	p.L446I	ST7L_ENST00000544629.1_Missense_Mutation_p.L381I|ST7L_ENST00000538187.1_Missense_Mutation_p.L390I|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000360743.4_Missense_Mutation_p.L446I|ST7L_ENST00000343210.7_Missense_Mutation_p.L446I|ST7L_ENST00000369668.2_Missense_Mutation_p.L446I|ST7L_ENST00000490067.1_Missense_Mutation_p.L429I|ST7L_ENST00000369666.1_Missense_Mutation_p.L429I|ST7L_ENST00000369669.1_Missense_Mutation_p.L263I|ST7L_ENST00000543570.1_Intron	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	446					negative regulation of cell growth	integral to membrane	binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGTGCTGAAGATGAAAGAAA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	125	129			NA	NA	1		NA											NA				113098550		2203	4300	6503	SO:0001583	missense			AB081317	CCDS848.1, CCDS849.1, CCDS850.1, CCDS852.1	1p13.1	2008-06-06			ENSG00000007341	ENSG00000007341	54879	54879			18441	protein-coding gene	gene with protein product					NA	12012006	Standard		NM_138729	NA	Approved	FLJ20284, STLR, ST7R, FAM4B	uc001ecd.3	Q8TDW4	OTTHUMG00000011753	ENST00000358039.4:c.1336C>A	1.37:g.113098550G>T	ENSP00000350734:p.Leu446Ile	NA	A8K4S7|Q49AH6|Q5TEI4|Q5U5K6|Q6N067|Q7Z2Z0|Q7Z3C2|Q8N7P8|Q8TDW1|Q8TDW2|Q8TDW3|Q9NXF3	37	CCDS848.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750582	0.89753	.	.	ENSG00000007341	ENST00000358039;ENST00000360743;ENST00000369673;ENST00000544629;ENST00000369669;ENST00000490067;ENST00000369668;ENST00000343210;ENST00000369666;ENST00000538187	T;T;T;T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01	5.59	5.59	0.84812	.	0.000000	0.64402	D	0.000001	T	0.34919	0.0914	L	0.56199	1.76	0.80722	D	1	D;D;P;D;D;P;D;P	0.89917	1.0;0.999;0.697;0.96;0.96;0.919;0.96;0.934	D;D;P;P;P;P;P;P	0.87578	0.997;0.998;0.574;0.668;0.668;0.668;0.668;0.776	T	0.01228	-1.1412	10	0.37606	T	0.19	-13.8533	19.1881	0.93653	0.0:0.0:1.0:0.0	.	390;381;381;446;429;429;446;446	B7Z7D4;B7Z3J2;F5H2P3;Q8TDW4-5;Q8TDW4-6;Q8TDW4-3;Q8TDW4-2;Q8TDW4	.;.;.;.;.;.;.;ST7L_HUMAN	I	446;446;227;381;263;429;446;446;429;390	ENSP00000350734:L446I;ENSP00000353972:L446I;ENSP00000445499:L381I;ENSP00000358683:L263I;ENSP00000417140:L429I;ENSP00000358682:L446I;ENSP00000345312:L446I;ENSP00000358680:L429I;ENSP00000444021:L390I	ENSP00000345312:L446I	L	-	1	0	ST7L	112900073	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.864000	0.99589	2.625000	0.88918	0.585000	0.79938	CTT	ST7L-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032504.3		-	ENST00000358039.4	Missense_Mutation	SNP	1 : 113098550 - 113098550 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	454	44
STON1	11037	broad.mit.edu	37	2	48808780	48808780	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48808780G>T	ENST00000406226.1	+	3	1203	c.1008G>T	c.(1006-1008)gaG>gaT	p.E336D	STON1_ENST00000404752.1_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.E336D|STON1_ENST00000309835.3_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.E336D	NM_001198595.1	NP_001185524.1			stonin 1	NA										NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCAAGGTTGAGAACTTCAGTG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	94	92			NA	NA	2		NA											NA				48808780		2201	4300	6501	SO:0001583	missense			AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244	11037	11037			17003	protein-coding gene	gene with protein product	stoned B homolog 1 (Drosophila)	605357			NA	14504226, 10364255	Standard	NM_006873	NM_001198595	NA	Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1008G>T	2.37:g.48808780G>T	ENSP00000384615:p.Glu336Asp	NA		37	CCDS1841.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911921	0.52439	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.12039	2.75;2.75;2.75;2.73;2.72;2.73;2.73;2.91	5.45	3.66	0.41972	Stonin homology (1);	0.000000	0.85682	D	0.000000	T	0.31949	0.0813	M	0.63428	1.95	0.41356	D	0.987397	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.997;0.963;0.994	T	0.03000	-1.1084	10	0.72032	D	0.01	.	10.8338	0.46675	0.2089:0.0:0.7911:0.0	.	336;336;336	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	D	336	ENSP00000385273:E336D;ENSP00000384615:E336D;ENSP00000310969:E336D;ENSP00000385499:E336D;ENSP00000385701:E336D;ENSP00000378236:E336D;ENSP00000311493:E336D;ENSP00000378234:E336D	ENSP00000310969:E336D	E	+	3	2	STON1-GTF2A1L;STON1	48662284	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.632000	0.37102	0.870000	0.35726	0.591000	0.81541	GAG	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323848.2		+	ENST00000406226.1	Missense_Mutation	SNP	2 : 48808780 - 48808780 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	753	127
FICD	11153	broad.mit.edu	37	12	108913102	108913102	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108913102C>T	ENST00000361549.2	+	0	1611				FICD_ENST00000552695.1_Silent_p.G409G			Q9BVA6	FICD_HUMAN	FIC domain containing	NA					negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity	p.G409G(1)		NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						CCAACGAGGGCGACGTGAGGC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											101	94	97			NA	NA	12		NA											NA				108913102		2203	4300	6503	SO:0001624	3_prime_UTR_variant			AF049611	CCDS9116.1	12q24.1	2007-12-05				ENSG00000198855	11153	11153			18416	protein-coding gene	gene with protein product	huntingtin interacting protein 13, fic S-phase protein cell division homolog (E. coli)				NA	9700202	Standard	NM_007076	NM_007076	NA	Approved	HYPE, HIP13	uc001tmx.1	Q9BVA6		ENST00000361549.2:c.*964C>T	12.37:g.108913102C>T		NA	O75406	37																																																																																				FICD-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000404844.1		+	ENST00000361549.2	3'UTR	SNP	12 : 108913102 - 108913102 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	59
RHCE	6006	broad.mit.edu	37	1	25701914	25701914	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25701914C>T	ENST00000349438.4	-	7	963	c.945G>A	c.(943-945)tgG>tgA	p.W315*	RHCE_ENST00000243186.6_Intron|RHCE_ENST00000346452.4_Missense_Mutation_p.G209D|RHCE_ENST00000455194.1_Missense_Mutation_p.G255D|RHCE_ENST00000413854.1_Intron|RHCE_ENST00000349320.3_Missense_Mutation_p.G344D|RHCE_ENST00000374352.2_Missense_Mutation_p.G344D|RHCE_ENST00000294413.7_Missense_Mutation_p.G360D|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000425135.1_Nonsense_Mutation_p.W269*	NM_138618.3	NP_619524	P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	16						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTGGAAGCCAATCCTAGA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	145	157			NA	NA	1		NA											NA				25701914		2202	4295	6497	SO:0001587	stop_gained			BC075081	CCDS30634.1, CCDS30635.1, CCDS30636.1, CCDS30637.1	1p36.11	2014-09-17	2006-02-23		ENSG00000188672	ENSG00000188672	6006	6006		CD molecules, Blood group antigens	10008	protein-coding gene	gene with protein product		111700	Rhesus blood group, CcEe antigens	RH	NA	8220426	Standard	NM_020485	NM_138618	NA	Approved	CD240CE	uc001bkf.3	P18577	OTTHUMG00000007650	ENST00000349438.4:c.945G>A	1.37:g.25701914C>T	ENSP00000334570:p.Trp315*	NA	A7DW68|B7UDF3|B7UDF4|B7UDF5|B7UDF6|B7UDF7|B7UDF8|B7UDF9|B7UDG0|B7UDG1|B7UDG2|B7UDG3|Q02163|Q02164|Q02165|Q16160|Q2MJW0|Q2VC86|Q3LTM6|Q6AZX5|Q6J2U3|Q7RU06|Q8IZT2|Q8IZT3|Q8IZT4|Q8IZT5|Q9UD13|Q9UD14|Q9UD15|Q9UD16|Q9UD73|Q9UD74|Q9UEC2|Q9UEC3|Q9UPN0	37	CCDS30637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	11.05|11.05	1.523411|1.523411	0.27299|0.27299	.|.	.|.	ENSG00000188672|ENSG00000188672	ENST00000539650;ENST00000455194;ENST00000374352;ENST00000349320;ENST00000527747;ENST00000346452;ENST00000294413|ENST00000425135;ENST00000447203;ENST00000349438	T;T;T;T;T|.	0.25085|.	1.82;1.82;1.82;2.45;1.82|.	4.87|4.87	-0.203|-0.203	0.13204|0.13204	Ammonium transporter AmtB-like (3);|.	1.265480|.	0.05264|.	N|.	0.516210|.	T|.	0.48277|.	0.1491|.	M|M	0.74647|0.74647	2.275|2.275	0.80722|0.80722	A|A	1|1	B;B;D|.	0.89917|.	0.08;0.005;1.0|.	B;B;D|.	0.97110|.	0.074;0.005;1.0|.	T|.	0.51655|.	-0.8678|.	9|.	0.28530|0.23891	T|T	0.3|0.37	0.0295|0.0295	5.1073|5.1073	0.14790|0.14790	0.4748:0.395:0.0:0.1302|0.4748:0.395:0.0:0.1302	.|.	344;209;360|.	Q5VSJ9;E7EQ47;P18577|.	.;.;RHCE_HUMAN|.	D|X	289;255;344;344;38;209;360|269;359;315	ENSP00000416275:G255D;ENSP00000363472:G344D;ENSP00000311185:G344D;ENSP00000344485:G209D;ENSP00000294413:G360D|.	ENSP00000294413:G360D|ENSP00000334570:W315X	G|W	-|-	2|3	0|0	RHCE|RHCE	25574501|25574501	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	-2.016000|-2.016000	0.01446|0.01446	-0.254000|-0.254000	0.09500|0.09500	-0.158000|-0.158000	0.13435|0.13435	GGC|TGG	RHCE-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000101973.1		-	ENST00000349438.4	Nonsense_Mutation	SNP	1 : 25701914 - 25701914 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	558	55
SLITRK4	139065	broad.mit.edu	37	X	142716967	142716967	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:142716967T>C	ENST00000381779.4	-	2	2183	c.1958A>G	c.(1957-1959)cAc>cGc	p.H653R	SLITRK4_ENST00000356928.1_Missense_Mutation_p.H653R|SLITRK4_ENST00000338017.4_Missense_Mutation_p.H653R	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	653						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGCCTTCGTGCTTCACTGT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	113	112			NA	NA	X		NA											NA				142716967		2203	4300	6503	SO:0001583	missense			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542	139065	139065			23502	protein-coding gene	gene with protein product		300562			NA	14557068	Standard	NM_173078	NM_001184749	NA	Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1958A>G	X.37:g.142716967T>C	ENSP00000371198:p.His653Arg	NA	Q5JXG3|Q8TCM8|Q96DL3	37	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	T	4.134	0.023160	0.08006	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.49720	0.77;0.77;0.77	5.36	5.36	0.76844	.	0.066272	0.64402	U	0.000009	T	0.34600	0.0903	L	0.29908	0.895	0.58432	D	0.999994	B	0.11235	0.004	B	0.09377	0.004	T	0.13791	-1.0496	10	0.15952	T	0.53	-10.4493	13.1266	0.59358	0.0:0.0:0.0:1.0	.	653	Q8IW52	SLIK4_HUMAN	R	653	ENSP00000371198:H653R;ENSP00000349400:H653R;ENSP00000336627:H653R	ENSP00000336627:H653R	H	-	2	0	SLITRK4	142544633	1.000000	0.71417	0.910000	0.35882	0.933000	0.57130	6.298000	0.72763	1.781000	0.52344	0.417000	0.27973	CAC	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058617.1		-	ENST00000381779.4	Missense_Mutation	SNP	X : 142716967 - 142716967 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	685	167
KIAA1199	0	broad.mit.edu	37	15	81241240	81241240	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81241240C>A	ENST00000394685.3	+	30	4480	c.4061C>A	c.(4060-4062)cCt>cAt	p.P1354H	KIAA1199_ENST00000356249.5_Missense_Mutation_p.P1354H|MESDC2_ENST00000560244.1_Splice_Site|KIAA1199_ENST00000220244.3_Missense_Mutation_p.P1354H			Q8WUJ3	K1199_HUMAN		1354										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GTGCCCATCCCTGTGGTGAAG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													177	150	159			NA	NA	15		NA											NA				81241240		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000394685.3:c.4061C>A	15.37:g.81241240C>A	ENSP00000378177:p.Pro1354His	NA	Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	37	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528904	0.64860	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249	T;T;T	0.70399	-0.48;-0.48;-0.48	5.26	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.81202	0.4773	M	0.69823	2.125	0.80722	D	1	D	0.76494	0.999	D	0.63488	0.915	D	0.83673	0.0167	10	0.87932	D	0	-21.3879	13.7161	0.62697	0.0:0.9245:0.0:0.0755	.	1354	Q8WUJ3	K1199_HUMAN	H	1354	ENSP00000220244:P1354H;ENSP00000378177:P1354H;ENSP00000348583:P1354H	ENSP00000220244:P1354H	P	+	2	0	KIAA1199	79028295	1.000000	0.71417	0.948000	0.38648	0.975000	0.68041	6.475000	0.73582	1.361000	0.45981	0.650000	0.86243	CCT	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000291389.1		+	ENST00000394685.3	Missense_Mutation	SNP	15 : 81241240 - 81241240 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	887	145
CRADD	8738	broad.mit.edu	37	12	94072626	94072626	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:94072626G>A	ENST00000542893.2	+	2	394	c.76G>A	c.(76-78)Gtt>Att	p.V26I	CRADD_ENST00000541813.1_Missense_Mutation_p.V26I|CRADD_ENST00000552033.1_Missense_Mutation_p.V26I|CRADD_ENST00000332896.3_Missense_Mutation_p.V26I|CRADD_ENST00000548483.1_Missense_Mutation_p.V26I|CRADD_ENST00000552983.1_Missense_Mutation_p.V26I			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	26	CARD.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						GGAGGGACTGGTTCTTCAGTA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	74	76			NA	NA	12		NA											NA				94072626		2203	4300	6503	SO:0001583	missense			U84388	CCDS9048.1	12q21.33-q23.1	2008-08-04				ENSG00000169372	8738	8738			2340	protein-coding gene	gene with protein product	RIP-associated ICH1/CED3-homologous protein with death domain	603454			NA	8985253, 9044836	Standard	NM_003805	NM_003805	NA	Approved	RAIDD	uc001tda.3	P78560		ENST00000542893.2:c.76G>A	12.37:g.94072626G>A	ENSP00000439068:p.Val26Ile	NA		37	CCDS9048.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355886	0.61293	.	.	ENSG00000169372	ENST00000552983;ENST00000332896;ENST00000552033;ENST00000548483;ENST00000542893;ENST00000541813	T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88	5.19	5.19	0.71726	DEATH-like (2);Caspase Recruitment (3);	0.054062	0.64402	D	0.000001	T	0.32102	0.0818	N	0.11724	0.165	0.45005	D	0.998029	D;B	0.67145	0.996;0.051	D;B	0.76071	0.987;0.233	T	0.15009	-1.0452	10	0.13853	T	0.58	-25.1462	18.7029	0.91627	0.0:0.0:1.0:0.0	.	26;26	F5H7C2;P78560	.;CRADD_HUMAN	I	26	ENSP00000449570:V26I;ENSP00000327647:V26I;ENSP00000449664:V26I;ENSP00000448685:V26I;ENSP00000439068:V26I;ENSP00000442624:V26I	ENSP00000327647:V26I	V	+	1	0	CRADD	92596757	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.801000	0.55545	2.403000	0.81681	0.655000	0.94253	GTT	CRADD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408515.1		+	ENST00000542893.2	Missense_Mutation	SNP	12 : 94072626 - 94072626 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	63
THSD4	79875	broad.mit.edu	37	15	72039244	72039244	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72039244C>T	ENST00000355327.3	+	13	2238	c.2104C>T	c.(2104-2106)Ctg>Ttg	p.L702L	THSD4_ENST00000357769.4_Silent_p.L342L|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Silent_p.L702L			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	702	TSP type-1 2.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCGCCAGGTTCTGTGCCGCCA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	57	54			NA	NA	15		NA											NA				72039244		2188	4294	6482	SO:0001819	synonymous_variant			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720	79875	79875			25835	protein-coding gene	gene with protein product		614476			NA	19734141	Standard	NM_024817	NM_001286429	NA	Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.2104C>T	15.37:g.72039244C>T		NA	B2RTY3|Q6MZI3|Q6UXZ8|Q9H8E4	37	CCDS10238.2																																																																																			THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257253.2		+	ENST00000355327.3	Silent	SNP	15 : 72039244 - 72039244 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	314	67
ADARB2	105	broad.mit.edu	37	10	1313190	1313190	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1313190G>A	ENST00000381312.1	-	4	1477	c.1152C>T	c.(1150-1152)caC>caT	p.H384H		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	384					mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TATGGCGGGCGTGCATGGGCG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	74	80			NA	NA	10		NA											NA				1313190		2203	4300	6503	SO:0001819	synonymous_variant			AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	105	105	3.5.-.-		227	protein-coding gene	gene with protein product	RED2 homolog (rat)	602065	adenosine deaminase, RNA-specific, B2 (RED2 homolog rat), adenosine deaminase, RNA-specific, B2		NA	9272162, 10836796	Standard	NM_018702	NM_018702	NA	Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1152C>T	10.37:g.1313190G>A		NA	B2RPJ5|Q5VUT6	37	CCDS7058.1																																																																																			ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046426.1		-	ENST00000381312.1	Silent	SNP	10 : 1313190 - 1313190 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	160	26
KYNU	8942	broad.mit.edu	37	2	143742745	143742745	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:143742745C>A	ENST00000264170.4	+	9	1080	c.822C>A	c.(820-822)tcC>tcA	p.S274S	KYNU_ENST00000409512.1_Silent_p.S274S|KYNU_ENST00000375773.2_Silent_p.S274S	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	274					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	GCTGGTGTTCCTACAAGGTAC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													208	194	199			NA	NA	2		NA											NA				143742745		2203	4300	6503	SO:0001819	synonymous_variant			U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	8942	8942	3.7.1.3		6469	protein-coding gene	gene with protein product	L-kynurenine hydrolase	605197	kynureninase (L-kynurenine hydrolase)		NA	8706755, 9180257	Standard	NM_001032998	NM_001199241	NA	Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.822C>A	2.37:g.143742745C>A		NA	B2RCZ5|D3DP79|Q6I9T2	37	CCDS2183.1																																																																																			KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254772.1		+	ENST00000264170.4	Silent	SNP	2 : 143742745 - 143742745 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	482	34
OR4D2	124538	broad.mit.edu	37	17	56247439	56247439	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56247439G>T	ENST00000545221.1	+	1	423	c.423G>T	c.(421-423)tgG>tgT	p.W141C		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CTCAGCTCTGGGTGGGGCTGG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	91	91			NA	NA	17		NA											NA				56247439		2203	4300	6503	SO:0001583	missense				CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713	124538	124538		GPCR / Class A : Olfactory receptors	8294	protein-coding gene	gene with protein product					NA		Standard		NM_001004707	NA	Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.423G>T	17.37:g.56247439G>T	ENSP00000441354:p.Trp141Cys	NA	Q6IFN8|Q96R75	37	CCDS32688.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.194430	0.00299	.	.	ENSG00000255713	ENST00000545221	T	0.00021	9.03	5.71	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	N	0.000012	T	0.00012	0.0000	N	0.00000	-4.2	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.54649	-0.8262	10	0.02654	T	1	-6.0013	4.3334	0.11075	0.0:0.1575:0.1815:0.661	.	141	P58180	OR4D2_HUMAN	C	141	ENSP00000441354:W141C	ENSP00000441354:W141C	W	+	3	0	OR4D2	53602438	0.000000	0.05858	1.000000	0.80357	0.659000	0.38960	-0.822000	0.04448	1.102000	0.41551	-0.311000	0.09066	TGG	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443366.1		+	ENST00000545221.1	Missense_Mutation	SNP	17 : 56247439 - 56247439 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	680	129
MACF1	23499	broad.mit.edu	37	1	39826503	39826503	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39826503C>A	ENST00000372915.3	+	47	12385	c.12298C>A	c.(12298-12300)Ctg>Atg	p.L4100M	MACF1_ENST00000317713.7_Missense_Mutation_p.L2033M|MACF1_ENST00000567887.1_Missense_Mutation_p.L4132M|MACF1_ENST00000545844.1_Missense_Mutation_p.L2033M|MACF1_ENST00000361689.2_Missense_Mutation_p.L2033M|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Missense_Mutation_p.L2033M|MACF1_ENST00000289893.4_Missense_Mutation_p.L2535M|MACF1_ENST00000564288.1_Missense_Mutation_p.L4095M			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4100					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTCCTATAGCCTGGCTGAGCG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	56	56			NA	NA	1		NA											NA				39826503		2203	4300	6503	SO:0001583	missense			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603	23499	23499		EF-hand domain containing	13664	protein-coding gene	gene with protein product	actin cross-linking factor, 620 kDa actin binding protein, macrophin 1, trabeculin-alpha, actin cross-linking family protein 7	608271			NA	7635207, 10529403	Standard	NM_033044	NM_012090	NA	Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.12298C>A	1.37:g.39826503C>A	ENSP00000362006:p.Leu4100Met	NA	E9PJT0|O75053|Q5VW20|Q8WXY2|Q9H540|Q9UKP0|Q9ULG9	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.28|11.28	1.593516|1.593516	0.28357|0.28357	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.52983|.	0.64;0.64;0.64;0.64;0.64;0.64|.	5.8|5.8	1.02|1.02	0.19986|0.19986	.|.	0.136619|.	0.30940|.	N|.	0.008565|.	T|T	0.20536|0.20536	0.0494|0.0494	N|N	0.04043|0.04043	-0.29|-0.29	0.80722|0.80722	D|D	1|1	P;B;B;B|.	0.41597|.	0.756;0.109;0.097;0.041|.	P;B;B;B|.	0.51016|.	0.656;0.061;0.055;0.059|.	T|T	0.04017|0.04017	-1.0984|-1.0984	10|5	0.45353|.	T|.	0.12|.	.|.	4.1057|4.1057	0.10035|0.10035	0.2912:0.4006:0.0:0.3082|0.2912:0.4006:0.0:0.3082	.|.	4100;2033;2033;1998|.	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	MACF1_HUMAN;.;.;.|.	M|H	2033;4100;2033;2033;2033;2535|1166	ENSP00000439537:L2033M;ENSP00000362006:L4100M;ENSP00000354573:L2033M;ENSP00000313438:L2033M;ENSP00000444364:L2033M;ENSP00000289893:L2535M|.	ENSP00000289893:L2535M|.	L|P	+|+	1|2	2|0	MACF1|MACF1	39599090|39599090	0.990000|0.990000	0.36364|0.36364	0.800000|0.800000	0.32199|0.32199	0.942000|0.942000	0.58702|0.58702	1.718000|1.718000	0.38001|0.38001	0.211000|0.211000	0.20683|0.20683	0.563000|0.563000	0.77884|0.77884	CTG|CCT	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000392096.1		+	ENST00000372915.3	Missense_Mutation	SNP	1 : 39826503 - 39826503 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	30
FLT4	2324	broad.mit.edu	37	5	180056812	180056812	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180056812G>T	ENST00000261937.6	-	6	778	c.700C>A	c.(700-702)Ctg>Atg	p.L234M	FLT4_ENST00000393347.3_Missense_Mutation_p.L234M|FLT4_ENST00000502649.1_Missense_Mutation_p.L234M|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	234	Ig-like C2-type 3.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTGGGCAACAGCTGGATGTCA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(97;1075 1466 27033 27547 35871)							NA				0													75	65	69			NA	NA	5		NA											NA				180056812		2199	4297	6496	SO:0001583	missense			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2324	2324	2.7.10.1	Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	3767	protein-coding gene	gene with protein product		136352			NA	1319394	Standard		NM_002020	NA	Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.700C>A	5.37:g.180056812G>T	ENSP00000261937:p.Leu234Met	NA	Q16067|Q86W07	37	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069511	0.55539	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.78924	-1.22;-1.22;-1.22	4.91	4.03	0.46877	Immunoglobulin-like (1);	.	.	.	.	D	0.84579	0.5503	M	0.66939	2.045	0.51482	D	0.999927	D;D;D;D	0.89917	1.0;1.0;0.975;0.975	D;D;D;D	0.97110	0.999;1.0;0.951;0.934	D	0.83885	0.0281	9	0.49607	T	0.09	.	9.3967	0.38406	0.0754:0.0:0.7799:0.1447	.	234;234;234;234	B5A927;P35916-3;E9PD35;P35916	.;.;.;VGFR3_HUMAN	M	234;234;234;44	ENSP00000261937:L234M;ENSP00000377016:L234M;ENSP00000426057:L234M	ENSP00000261937:L234M	L	-	1	2	FLT4	179989418	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.092000	0.64511	1.190000	0.43042	-0.310000	0.09108	CTG	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253527.4		-	ENST00000261937.6	Missense_Mutation	SNP	5 : 180056812 - 180056812 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	146	36
COL10A1	1300	broad.mit.edu	37	6	116441246	116441246	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116441246G>T	ENST00000327673.4	-	2	2440	c.2033C>A	c.(2032-2034)gCt>gAt	p.A678D	NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.A678D			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	678	C1q.|Nonhelical region (NC1).				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		TCACATTGGAGCCACTAGGAA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	113	110			NA	NA	6		NA											NA				116441246		2203	4300	6503	SO:0001583	missense				CCDS5105.1	6q21-q22	2013-01-16	2008-07-29		ENSG00000123500	ENSG00000123500	1300	1300		Collagens	2185	protein-coding gene	gene with protein product	Schmid metaphyseal chondrodysplasia	120110			NA	2037056	Standard		XM_006715332	NA	Approved		uc003pwm.3	Q03692	OTTHUMG00000015426	ENST00000327673.4:c.2033C>A	6.37:g.116441246G>T	ENSP00000327368:p.Ala678Asp	NA	A1L4P2	37	CCDS5105.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520158	0.44866	.	.	ENSG00000123500	ENST00000243222;ENST00000327673	D;D	0.86097	-2.07;-2.07	5.08	5.08	0.68730	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	D	0.87224	0.6124	M	0.64404	1.975	0.80722	D	1	D	0.76494	0.999	P	0.59056	0.851	D	0.88058	0.2792	10	0.59425	D	0.04	.	14.4628	0.67462	0.0:0.147:0.853:0.0	.	678	Q03692	COAA1_HUMAN	D	678	ENSP00000243222:A678D;ENSP00000327368:A678D	ENSP00000243222:A678D	A	-	2	0	COL10A1	116547939	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.494000	0.60347	2.539000	0.85634	0.455000	0.32223	GCT	COL10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041926.1		-	ENST00000327673.4	Missense_Mutation	SNP	6 : 116441246 - 116441246 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	801	55
FAM71B	153745	broad.mit.edu	37	5	156589472	156589472	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156589472T>G	ENST00000302938.4	-	2	1899	c.1804A>C	c.(1804-1806)Acc>Ccc	p.T602P		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	602						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATGGATTTGGTTTCAAAGACG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	151	149			NA	NA	5		NA											NA				156589472		2203	4300	6503	SO:0001583	missense				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613	153745	153745			28397	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_130899	NM_130899	NA	Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1804A>C	5.37:g.156589472T>G	ENSP00000305596:p.Thr602Pro	NA	Q1EDD9|Q8TC64|Q96LY8	37	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.958315	0.53400	.	.	ENSG00000170613	ENST00000302938	T	0.04454	3.62	4.13	-3.73	0.04398	.	0.794005	0.10676	N	0.646996	T	0.05273	0.0140	L	0.53249	1.67	0.30561	N	0.764537	D	0.54964	0.969	B	0.44315	0.446	T	0.20240	-1.0281	10	0.62326	D	0.03	-3.6571	3.6906	0.08344	0.2992:0.2022:0.0:0.4986	.	602	Q8TC56	FA71B_HUMAN	P	602	ENSP00000305596:T602P	ENSP00000305596:T602P	T	-	1	0	FAM71B	156522050	0.090000	0.21635	0.945000	0.38365	0.514000	0.34195	-1.679000	0.01940	-0.765000	0.04645	0.533000	0.62120	ACC	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252570.2		-	ENST00000302938.4	Missense_Mutation	SNP	5 : 156589472 - 156589472 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1043	104
NAV3	89795	broad.mit.edu	37	12	78531121	78531121	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78531121T>C	ENST00000397909.2	+	19	4779	c.4606T>C	c.(4606-4608)Tca>Cca	p.S1536P	NAV3_ENST00000228327.6_Missense_Mutation_p.S1536P|NAV3_ENST00000266692.7_Missense_Mutation_p.S1359P|NAV3_ENST00000536525.2_Missense_Mutation_p.S1536P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1536	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCATTCGGGCTCATTCAGAGA	0.488		NA								HNSCC(70;0.22)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	83	84			NA	NA	12		NA											NA				78531121		1908	4133	6041	SO:0001583	missense			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798	89795	89795			15998	protein-coding gene	gene with protein product	pore membrane and/or filament interacting like protein 1, steerin 3	611629			NA	12079279, 12062803	Standard	NM_001024383	XM_005269215	NA	Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4606T>C	12.37:g.78531121T>C	ENSP00000381007:p.Ser1536Pro	NA	Q8NFW7|Q9Y2E7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.3|24.3	4.510893|4.510893	0.85389|0.85389	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000552895|ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	.|T;T;T;T;T	.|0.35605	.|1.3;1.31;1.37;1.38;2.16	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.000000	.|0.34268	.|U	.|0.004102	T|T	0.60881|0.60881	0.2303|0.2303	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.997;1.0;1.0	.|D;D;D;D	.|0.85130	.|0.991;0.991;0.997;0.997	T|T	0.64015|0.64015	-0.6506|-0.6506	5|10	.|0.72032	.|D	.|0.01	-10.6286|-10.6286	16.2736|16.2736	0.82632|0.82632	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1536;1359;1536;1536	.|E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.|.;.;NAV3_HUMAN;.	P|P	430|1536;1536;1536;1359;157;165	.|ENSP00000446132:S1536P;ENSP00000381007:S1536P;ENSP00000228327:S1536P;ENSP00000266692:S1359P;ENSP00000448303:S165P	.|ENSP00000228327:S1536P	L|S	+|+	2|1	0|0	NAV3|NAV3	77055252|77055252	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.737000|0.737000	0.42083|0.42083	7.719000|7.719000	0.84751|0.84751	2.247000|2.247000	0.74100|0.74100	0.477000|0.477000	0.44152|0.44152	CTC|TCA	NAV3-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000406812.1		+	ENST00000397909.2	Missense_Mutation	SNP	12 : 78531121 - 78531121 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	400	12
HEATR4	399671	broad.mit.edu	37	14	73967357	73967357	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73967357G>A	ENST00000553558.1	-	12	2504	c.2183C>T	c.(2182-2184)gCc>gTc	p.A728V	HEATR4_ENST00000334988.2_Missense_Mutation_p.A728V|HEATR4_ENST00000560393.1_Missense_Mutation_p.A681V	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4	NA										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GAGAAGCTTGGCGGTCATAAG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	103	111			NA	NA	14		NA											NA				73967357		2203	4300	6503	SO:0001583	missense			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105	399671	399671			16761	protein-coding gene	gene with protein product					NA	15489334	Standard	NM_203309	NM_203309	NA	Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.2183C>T	14.37:g.73967357G>A	ENSP00000450444:p.Ala728Val	NA		37	CCDS9815.2	.	.	.	.	.	.	.	.	.	.	G	14.55	2.567887	0.45798	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.18657	2.2	5.35	4.46	0.54185	Armadillo-like helical (1);Armadillo-type fold (1);	0.382752	0.22466	N	0.059683	T	0.12603	0.0306	N	0.08118	0	0.30039	N	0.812774	B	0.21688	0.059	B	0.26094	0.066	T	0.09574	-1.0668	10	0.36615	T	0.2	-1.7862	13.3102	0.60376	0.078:0.0:0.922:0.0	.	728	Q86WZ0	HEAT4_HUMAN	V	728;681	ENSP00000450444:A728V	ENSP00000335447:A681V	A	-	2	0	HEATR4	73037110	1.000000	0.71417	0.987000	0.45799	0.845000	0.48019	2.773000	0.47686	1.384000	0.46424	0.555000	0.69702	GCC	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414422.2		-	ENST00000553558.1	Missense_Mutation	SNP	14 : 73967357 - 73967357 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	418	80
ZNF790	388536	broad.mit.edu	37	19	37309951	37309951	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37309951G>A	ENST00000356725.4	-	5	1415	c.1295C>T	c.(1294-1296)aCt>aTt	p.T432I	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CGAAGCCCAAGTAAAAGTCTT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	91	91			NA	NA	19		NA											NA				37309951		2203	4299	6502	SO:0001583	missense			BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863	388536	388536		Zinc fingers, C2H2-type, -	33114	protein-coding gene	gene with protein product					NA		Standard	NM_206894	NM_206894	NA	Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.1295C>T	19.37:g.37309951G>A	ENSP00000349161:p.Thr432Ile	NA		37	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	G	2.879	-0.232322	0.05983	.	.	ENSG00000197863	ENST00000356725	T	0.07688	3.17	3.14	-0.779	0.10973	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04003	0.0112	N	0.21142	0.635	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46345	-0.9198	9	0.16896	T	0.51	.	0.6109	0.00761	0.4251:0.1728:0.2325:0.1696	.	432	Q6PG37	ZN790_HUMAN	I	432	ENSP00000349161:T432I	ENSP00000349161:T432I	T	-	2	0	ZNF790	42001791	0.000000	0.05858	0.009000	0.14445	0.488000	0.33401	-3.108000	0.00601	0.004000	0.14682	-0.339000	0.08088	ACT	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385341.2		-	ENST00000356725.4	Missense_Mutation	SNP	19 : 37309951 - 37309951 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	659	16
DENND4B	9909	broad.mit.edu	37	1	153903495	153903495	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153903495G>A	ENST00000361217.4	-	25	4460	c.4042C>T	c.(4042-4044)Cgg>Tgg	p.R1348W	DENND4B_ENST00000474386.1_5'UTR	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1348										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CACAGCAGCCGTACCTGAACA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	34	33			NA	NA	1		NA											NA				153903495		1975	4151	6126	SO:0001583	missense			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837	9909	9909		DENN/MADD domain containing	29044	protein-coding gene	gene with protein product			KIAA0476	KIAA0476	NA	9455484, 12906859	Standard	XM_375806	NM_014856	NA	Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.4042C>T	1.37:g.153903495G>A	ENSP00000354597:p.Arg1348Trp	NA	Q5T4K0	37	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666975	0.67814	.	.	ENSG00000198837	ENST00000361217	T	0.08370	3.1	5.14	4.23	0.50019	.	0.120058	0.56097	D	0.000030	T	0.04770	0.0129	L	0.54323	1.7	0.47153	D	0.999338	B	0.11235	0.004	B	0.08055	0.003	T	0.08310	-1.0728	10	0.87932	D	0	-14.5368	12.8832	0.58028	0.0798:0.0:0.9202:0.0	.	1348	O75064	DEN4B_HUMAN	W	1348	ENSP00000354597:R1348W	ENSP00000354597:R1348W	R	-	1	2	DENND4B	152170119	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.021000	0.57196	1.392000	0.46585	0.563000	0.77884	CGG	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090278.2		-	ENST00000361217.4	Missense_Mutation	SNP	1 : 153903495 - 153903495 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	126	18
ADCY1	107	broad.mit.edu	37	7	45701749	45701749	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45701749G>A	ENST00000432715.1	+	9	1245	c.866G>A	c.(865-867)tGc>tAc	p.C289Y	ADCY1_ENST00000297323.7_Missense_Mutation_p.C514Y	NM_001281768.1	NP_001268697.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	514					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CTCATGCACTGCCGGAAAATG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	73	77			NA	NA	7		NA											NA				45701749		2203	4300	6503	SO:0001583	missense			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	107	107	4.6.1.1	Adenylate cyclases	232	protein-coding gene	gene with protein product		103072			NA	8314585	Standard	NM_021116	NM_021116	NA	Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000432715.1:c.866G>A	7.37:g.45701749G>A	ENSP00000392721:p.Cys289Tyr	NA	A4D2L8|Q75MI1	37		.	.	.	.	.	.	.	.	.	.	G	16.58	3.162870	0.57368	.	.	ENSG00000164742	ENST00000432715;ENST00000297323;ENST00000545300	D;T	0.81659	-1.52;-1.21	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.84460	0.5477	L	0.54323	1.7	0.80722	D	1	P;D	0.63046	0.863;0.992	B;D	0.74023	0.424;0.982	T	0.80070	-0.1536	10	0.02654	T	1	.	15.7517	0.77992	0.0:0.0:1.0:0.0	.	514;289	Q08828;C9J1J0	ADCY1_HUMAN;.	Y	289;514;514	ENSP00000392721:C289Y;ENSP00000297323:C514Y	ENSP00000297323:C514Y	C	+	2	0	ADCY1	45668274	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.198000	0.94994	2.331000	0.79229	0.591000	0.81541	TGC	ADCY1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000340056.1		+	ENST00000432715.1	Missense_Mutation	SNP	7 : 45701749 - 45701749 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	170	19
GJB5	2709	broad.mit.edu	37	1	35223537	35223537	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35223537C>T	ENST00000338513.1	+	2	779	c.606C>T	c.(604-606)ctC>ctT	p.L202L		NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	202					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				TGCTCAACCTCGTGGAGCTCA	0.547		NA											C	1	5e-04	NA	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	0.001	SNP								NA				0													120	100	107			NA	NA	1		NA											NA				35223537		2203	4300	6503	SO:0001819	synonymous_variant			BC004379	CCDS382.1	1p34.3	2008-05-14	2007-11-06		ENSG00000189280	ENSG00000189280	2709	2709		Ion channels / Gap junction proteins (connexins)	4287	protein-coding gene	gene with protein product	connexin 31.1	604493	gap junction protein, beta 5 (connexin 31.1), gap junction protein, beta 5		NA	9843209	Standard	NM_005268	NM_005268	NA	Approved	CX31.1	uc001bxu.4	O95377	OTTHUMG00000004053	ENST00000338513.1:c.606C>T	1.37:g.35223537C>T		NA	Q9UPA3	37	CCDS382.1																																																																																			GJB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000011561.1		+	ENST00000338513.1	Silent	SNP	1 : 35223537 - 35223537 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	316	67
MAPKAPK3	7867	broad.mit.edu	37	3	50685354	50685354	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50685354G>A	ENST00000446044.1	+	13	1622	c.1026G>A	c.(1024-1026)atG>atA	p.M342I	MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.M342I	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	342					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|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	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity	p.M342I(1)		central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		TGGCCACTATGCGGGTAGACT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											113	109	111			NA	NA	3		NA											NA				50685354		2203	4300	6503	SO:0001583	missense			U43784	CCDS2832.1	3p21.3	2004-03-10			ENSG00000114738	ENSG00000114738	7867	7867			6888	protein-coding gene	gene with protein product		602130			NA	8626550, 8622688	Standard	NM_004635	NM_004635	NA	Approved	3pK, MAPKAP3, 3PK	uc003dba.2	Q16644	OTTHUMG00000156850	ENST00000446044.1:c.1026G>A	3.37:g.50685354G>A	ENSP00000396467:p.Met342Ile	NA	B5BU67	37	CCDS2832.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.978411|3.978411	0.74360|0.74360	.|.	.|.	ENSG00000114738|ENSG00000114738	ENST00000451680|ENST00000446044;ENST00000357955	.|T;T	.|0.47869	.|0.83;0.83	5.88|5.88	4.99|4.99	0.66335|0.66335	.|Protein kinase-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.45538|0.45538	0.1347|0.1347	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	.|P	.|0.34629	.|0.46	.|B	.|0.28709	.|0.093	T|T	0.43228|0.43228	-0.9404|-0.9404	5|10	.|0.13853	.|T	.|0.58	-32.8874|-32.8874	15.8567|15.8567	0.78983|0.78983	0.0:0.0:0.863:0.137|0.0:0.0:0.863:0.137	.|.	.|342	.|Q16644	.|MAPK3_HUMAN	T|I	57|342	.|ENSP00000396467:M342I;ENSP00000350639:M342I	.|ENSP00000350639:M342I	A|M	+|+	1|3	0|0	MAPKAPK3|MAPKAPK3	50660358|50660358	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.916000|0.916000	0.54674|0.54674	7.916000|7.916000	0.87491|0.87491	1.445000|1.445000	0.47624|0.47624	0.655000|0.655000	0.94253|0.94253	GCG|ATG	MAPKAPK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346237.1		+	ENST00000446044.1	Missense_Mutation	SNP	3 : 50685354 - 50685354 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	592	93
OR7D4	125958	broad.mit.edu	37	19	9325480	9325480	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9325480A>C	ENST00000308682.2	-	1	62	c.34T>G	c.(34-36)Ttt>Gtt	p.F12V		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						AGGAGGAGAAATTTTGATAAT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	46	46			NA	NA	19		NA											NA				9325480		2199	4295	6494	SO:0001583	missense				CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667	125958	125958		GPCR / Class A : Olfactory receptors	8380	protein-coding gene	gene with protein product		611538		OR7D4P	NA		Standard		NM_001005191	NA	Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.34T>G	19.37:g.9325480A>C	ENSP00000310488:p.Phe12Val	NA	A8CAH8|B9EH79	37	CCDS32901.1	.	.	.	.	.	.	.	.	.	.	A	15.46	2.841269	0.51057	.	.	ENSG00000174667	ENST00000308682	T	0.04551	3.6	3.84	3.84	0.44239	.	0.000000	0.64402	D	0.000010	T	0.24470	0.0593	H	0.94847	3.59	0.20703	N	0.999866	D	0.58268	0.982	P	0.58454	0.839	T	0.20940	-1.0260	10	0.87932	D	0	.	11.8803	0.52571	1.0:0.0:0.0:0.0	.	12	Q8NG98	OR7D4_HUMAN	V	12	ENSP00000310488:F12V	ENSP00000310488:F12V	F	-	1	0	OR7D4	9186480	0.974000	0.33945	0.032000	0.17829	0.013000	0.08279	2.328000	0.43867	1.762000	0.52044	0.172000	0.16884	TTT	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449004.1		-	ENST00000308682.2	Missense_Mutation	SNP	19 : 9325480 - 9325480 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	446	42
NOTCH2	4853	broad.mit.edu	37	1	120483361	120483361	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120483361G>A	ENST00000256646.2	-	19	3219	c.3000C>T	c.(2998-3000)ggC>ggT	p.G1000G		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1000	EGF-like 26; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAACACATGTGCCACCATTGA	0.443		NA	N, F, Mis		marginal zone lymphoma, DLBCL				Alagille Syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													122	95	104			NA	NA	1		NA											NA				120483361		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250	4853	4853		Ankyrin repeat domain containing	7882	protein-coding gene	gene with protein product		600275	Notch (Drosophila) homolog 2, Notch homolog 2 (Drosophila)		NA	7698746	Standard	NM_024408	NM_001200001	NA	Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.3000C>T	1.37:g.120483361G>A		NA	Q5T3X7|Q99734|Q9H240	37	CCDS908.1																																																																																			NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033679.1		-	ENST00000256646.2	Silent	SNP	1 : 120483361 - 120483361 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	214	49
BBS5	129880	broad.mit.edu	37	2	170349386	170349386	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170349386C>T	ENST00000295240.3	+	6	765	c.389C>T	c.(388-390)gCt>gTt	p.A130V	BBS5_ENST00000554017.1_Missense_Mutation_p.A130V|BBS5_ENST00000392663.2_Missense_Mutation_p.A130V|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.A130V	NM_152384.2	NP_689597.1			Bardet-Biedl syndrome 5	NA										endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TTTCATAGAGCTTATGAAACT	0.279		NA							Bardet-Biedl syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	53	53			NA	NA	2		NA											NA				170349386		2202	4297	6499	SO:0001583	missense	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AY604003	CCDS2233.1	2q31	2011-08-02			ENSG00000163093	ENSG00000163093	129880	129880			970	protein-coding gene	gene with protein product		603650			NA	9888993, 10053027	Standard	NM_152384	NM_152384	NA	Approved	DKFZp762I194		Q8N3I7	OTTHUMG00000132207	ENST00000295240.3:c.389C>T	2.37:g.170349386C>T	ENSP00000295240:p.Ala130Val	NA		37	CCDS2233.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.322213	0.60634	.	.	ENSG00000163093;ENSG00000163093;ENSG00000163093;ENSG00000251569	ENST00000295240;ENST00000554017;ENST00000392663;ENST00000513963	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	5.6	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.88411	0.6429	M	0.86268	2.805	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.998	D;D;D	0.81914	0.995;0.942;0.966	D	0.88762	0.3258	10	0.41790	T	0.15	-18.0119	14.7904	0.69837	0.0:0.9305:0.0:0.0695	.	130;130;130	E9PBE3;Q8N3I7-2;Q8N3I7	.;.;BBS5_HUMAN	V	130	ENSP00000295240:A130V;ENSP00000452313:A130V;ENSP00000376431:A130V;ENSP00000424363:A130V	ENSP00000295240:A130V	A	+	2	0	BBS5;RP11-724O16.1	170057632	1.000000	0.71417	0.998000	0.56505	0.076000	0.17211	6.072000	0.71238	1.391000	0.46566	-0.203000	0.12734	GCT	BBS5-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255265.2		+	ENST00000295240.3	Missense_Mutation	SNP	2 : 170349386 - 170349386 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	142	25
NPAP1	23742	broad.mit.edu	37	15	24922621	24922621	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:24922621C>A	ENST00000329468.2	+	1	2081	c.1607C>A	c.(1606-1608)cCt>cAt	p.P536H		NM_018958.2	NP_061831.2			nuclear pore associated protein 1	NA											NA						CTTCCAGTCCCTTCCACCGGG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													185	185	185			NA	NA	15		NA											NA				24922621		2203	4300	6503	SO:0001583	missense			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823	23742	23742			1190	protein-coding gene	gene with protein product		610922	chromosome 15 open reading frame 2	C15orf2	NA	10783265, 22694955	Standard	NM_018958	NM_018958	NA	Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1607C>A	15.37:g.24922621C>A	ENSP00000333735:p.Pro536His	NA		37	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	14.61	2.587379	0.46110	.	.	ENSG00000185823	ENST00000329468	T	0.21191	2.02	1.97	-0.152	0.13407	.	0.496743	0.15175	N	0.276441	T	0.22704	0.0548	L	0.29908	0.895	0.09310	N	1	D	0.89917	1.0	P	0.60541	0.876	T	0.09443	-1.0674	10	0.72032	D	0.01	.	3.2627	0.06854	0.0:0.5446:0.2762:0.1792	.	536	Q9NZP6	CO002_HUMAN	H	536	ENSP00000333735:P536H	ENSP00000333735:P536H	P	+	2	0	C15orf2	22473714	0.000000	0.05858	0.000000	0.03702	0.520000	0.34377	-0.393000	0.07305	-0.032000	0.13758	0.205000	0.17691	CCT	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251253.1		+	ENST00000329468.2	Missense_Mutation	SNP	15 : 24922621 - 24922621 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1380	246
NES	10763	broad.mit.edu	37	1	156641882	156641882	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156641882G>T	ENST00000368223.3	-	4	2230	c.2098C>A	c.(2098-2100)Ctg>Atg	p.L700M		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	700	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGAGACCTCAGGGGTTCCTGA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	66	67			NA	NA	1		NA											NA				156641882		2203	4300	6503	SO:0001583	missense			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688	10763	10763		Intermediate filaments type IV	7756	protein-coding gene	gene with protein product		600915			NA	1478958, 9104587	Standard	NM_006617	NM_006617	NA	Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.2098C>A	1.37:g.156641882G>T	ENSP00000357206:p.Leu700Met	NA	O00552|Q3LIF5|Q5SYZ6	37	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215857	0.58452	.	.	ENSG00000132688	ENST00000368223	D	0.88896	-2.44	5.4	2.47	0.30058	.	0.809762	0.09720	N	0.764638	T	0.81088	0.4750	L	0.52573	1.65	0.09310	N	1	P	0.49961	0.93	P	0.48030	0.564	T	0.69888	-0.5023	10	0.49607	T	0.09	.	8.9551	0.35812	0.0785:0.2821:0.6394:0.0	.	700	P48681	NEST_HUMAN	M	700	ENSP00000357206:L700M	ENSP00000357206:L700M	L	-	1	2	NES	154908506	0.222000	0.23652	0.000000	0.03702	0.231000	0.25187	0.619000	0.24388	0.248000	0.21435	0.563000	0.77884	CTG	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000082844.2		-	ENST00000368223.3	Missense_Mutation	SNP	1 : 156641882 - 156641882 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	391	104
PRMT5	10419	broad.mit.edu	37	14	23398403	23398403	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23398403C>A	ENST00000397441.2	-	1	207	c.32G>T	c.(31-33)gGc>gTc	p.G11V	PRMT5_ENST00000397440.4_Missense_Mutation_p.G11V|PRMT5_ENST00000324366.8_Intron|PRMT5_ENST00000538452.1_5'UTR|PRMT5_ENST00000216350.8_Missense_Mutation_p.G11V|PRMT5_ENST00000553897.1_Intron|PRMT5_ENST00000553641.1_Intron	NM_001039619.1	NP_001034708.1	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	0					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		GACTAGTCTGCCCTTCTCCGT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	75	73			NA	NA	14		NA											NA				23398403		2203	4300	6503	SO:0001583	missense			AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	10419	10419	2.1.1.125	Protein arginine methyltransferases	10894	protein-coding gene	gene with protein product		604045	skb1 (S. pombe) homolog, SKB1 homolog (S. pombe)	HRMT1L5, SKB1	NA	9843966	Standard		NM_001282955	NA	Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000397441.2:c.32G>T	14.37:g.23398403C>A	ENSP00000380583:p.Gly11Val	NA	B5BU10|D3DS33|Q6IBR1|Q9UKH1	37	CCDS41922.1	.	.	.	.	.	.	.	.	.	.	C	7.435	0.639509	0.14386	.	.	ENSG00000100462	ENST00000397441;ENST00000397440;ENST00000216350	.	.	.	5.16	-0.233	0.13078	.	.	.	.	.	T	0.22742	0.0549	N	0.14661	0.345	0.24885	N	0.992208	B;B;B	0.13594	0.008;0.008;0.008	B;B;B	0.17979	0.02;0.014;0.02	T	0.23261	-1.0193	8	0.27785	T	0.31	.	7.324	0.26545	0.0:0.4492:0.0:0.5508	.	11;11;11	B4DX49;A8MTP3;A8MZ91	.;.;.	V	11	.	ENSP00000216350:G11V	G	-	2	0	PRMT5	22468243	0.841000	0.29509	0.943000	0.38184	0.694000	0.40290	0.187000	0.16998	0.056000	0.16144	-0.253000	0.11424	GGC	PRMT5-007	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413505.1		-	ENST00000397441.2	Missense_Mutation	SNP	14 : 23398403 - 23398403 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	567	92
MLK4	0	broad.mit.edu	37	1	233507831	233507831	+	Missense_Mutation	SNP	C	C	T	rs149965923		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233507831C>T	ENST00000366624.3	+	6	1861	c.1600C>T	c.(1600-1602)Cgg>Tgg	p.R534W	MLK4_ENST00000366623.3_Missense_Mutation_p.R534W	NM_032435.2	NP_115811.2				NA											NA						CTTGGACAAACGGCGGAGCCT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TRP/ARG	0,4406		0,0,2203	94	92	93		1600	4.2	1	1	dbSNP_134	93	1,8599	1.2+/-3.3	0,1,4299	yes	missense	KIAA1804	NM_032435.2	101	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	534/1037	233507831	1,13005	2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000366624.3:c.1600C>T	1.37:g.233507831C>T	ENSP00000355583:p.Arg534Trp	NA		37	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667601	0.67814	0.0	1.16E-4	ENSG00000143674	ENST00000366623;ENST00000366624	T;T	0.13901	2.55;2.55	5.11	4.17	0.49024	.	0.000000	0.64402	D	0.000001	T	0.36441	0.0967	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.99	T	0.20672	-1.0268	10	0.87932	D	0	.	12.7904	0.57530	0.4133:0.5866:0.0:0.0	.	534;534	Q5TCX8;Q5TCX8-2	M3KL4_HUMAN;.	W	534	ENSP00000355582:R534W;ENSP00000355583:R534W	ENSP00000355582:R534W	R	+	1	2	RP5-862P8.2	231574454	1.000000	0.71417	0.980000	0.43619	0.891000	0.51852	1.650000	0.37292	1.316000	0.45131	0.650000	0.86243	CGG	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092495.1		+	ENST00000366624.3	Missense_Mutation	SNP	1 : 233507831 - 233507831 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	477	20
TBC1D25	4943	broad.mit.edu	37	X	48418517	48418517	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48418517C>T	ENST00000376771.4	+	6	1562	c.1221C>T	c.(1219-1221)taC>taT	p.Y407Y	TBC1D25_ENST00000537536.1_Silent_p.Y153Y	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	407	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TCTTCTGTTACCGCTGGCTGC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	23	26			NA	NA	X		NA											NA				48418517		2203	4299	6502	SO:0001819	synonymous_variant			L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354	4943	4943			8092	protein-coding gene	gene with protein product		311240	ornithine aminotransferase-like 1	OATL1	NA	21383079	Standard	NM_002536	NM_002536	NA	Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.1221C>T	X.37:g.48418517C>T		NA	Q08AN9|Q3MII4|Q8TAR9	37	CCDS35242.1																																																																																			TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060764.2		+	ENST00000376771.4	Silent	SNP	X : 48418517 - 48418517 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	73	20
EDAR	10913	broad.mit.edu	37	2	109524431	109524431	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109524431C>A	ENST00000409271.1	-	10	1387	c.944G>T	c.(943-945)aGc>aTc	p.S315I	EDAR_ENST00000376651.1_Missense_Mutation_p.S315I|EDAR_ENST00000258443.2_Missense_Mutation_p.S283I			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	283					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						ACTGTCGACGCTCCGGCTCAG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	39	38			NA	NA	2		NA											NA				109524431		2203	4300	6503	SO:0001583	missense			AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960	10913	10913		Tumor necrosis factor receptor superfamily	2895	protein-coding gene	gene with protein product		604095	ectodysplasin 1, anhidrotic receptor	ED3, DL	NA	10431241, 9375732	Standard		NM_022336	NA	Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000409271.1:c.944G>T	2.37:g.109524431C>A	ENSP00000386371:p.Ser315Ile	NA	D3DX74|Q52LL5|Q9UND9	37		.	.	.	.	.	.	.	.	.	.	C	18.52	3.641763	0.67244	.	.	ENSG00000135960	ENST00000409271;ENST00000258443;ENST00000376651	D;D;D	0.94650	-3.48;-3.29;-3.48	5.64	5.64	0.86602	.	0.114476	0.85682	D	0.000000	D	0.97185	0.9080	M	0.74258	2.255	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.991	D	0.97461	1.0034	10	0.87932	D	0	-30.4742	19.7084	0.96083	0.0:1.0:0.0:0.0	.	315;283	E9PC98;Q9UNE0	.;EDAR_HUMAN	I	315;283;315	ENSP00000386371:S315I;ENSP00000258443:S283I;ENSP00000365839:S315I	ENSP00000258443:S283I	S	-	2	0	EDAR	108890863	1.000000	0.71417	0.960000	0.40013	0.152000	0.21847	7.209000	0.77916	2.648000	0.89879	0.561000	0.74099	AGC	EDAR-002	KNOWN	alternative_5_UTR|basic	protein_coding	NA	protein_coding	OTTHUMT00000331201.1		-	ENST00000409271.1	Missense_Mutation	SNP	2 : 109524431 - 109524431 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	291	85
SYNE1	23345	broad.mit.edu	37	6	152652461	152652461	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152652461G>A	ENST00000367255.5	-	78	13960	c.13359C>T	c.(13357-13359)tcC>tcT	p.S4453S	SYNE1_ENST00000423061.1_Silent_p.S4382S|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000448038.1_Silent_p.S4382S|SYNE1_ENST00000265368.4_Silent_p.S4453S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4453					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.S4453S(2)|p.S4382S(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGGTTTTCTCGGACAAGGCTT	0.478		NA								HNSCC(10;0.0054)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				3	Substitution - coding silent(3)	endometrium(3)						G	,	0,4406		0,0,2203	102	93	96		13146,13359	-5.7	0.9	6		96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SYNE1	NM_033071.3,NM_182961.3	,	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	,	4382/8750,4453/8798	152652461	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018	23345	23345			17089	protein-coding gene	gene with protein product	myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1	608441	chromosome 6 open reading frame 98	C6orf98	NA	9872452, 10878022	Standard	NM_182961	NM_182961	NA	Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.13359C>T	6.37:g.152652461G>A		NA	O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	37	CCDS5236.2																																																																																			SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334755.2		-	ENST00000367255.5	Silent	SNP	6 : 152652461 - 152652461 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	335	46
RRAGA	10670	broad.mit.edu	37	9	19050016	19050016	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:19050016C>T	ENST00000380527.1	+	1	645	c.359C>T	c.(358-360)gCc>gTc	p.A120V		NM_006570.4	NP_006561.1	Q7L523	RRAGA_HUMAN	Ras-related GTP binding A	120					apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(1)	3						TCTCCTGACGCCAAAATCTTC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	70	71			NA	NA	9		NA											NA				19050016		2203	4300	6503	SO:0001583	missense			BC006433	CCDS6488.1	9p21.3	2008-02-05			ENSG00000155876	ENSG00000155876	10670	10670			16963	protein-coding gene	gene with protein product		612194			NA	7499430, 8995684	Standard	NM_006570	NM_006570	NA	Approved	RAGA, FIP-1	uc003znj.3	Q7L523	OTTHUMG00000019621	ENST00000380527.1:c.359C>T	9.37:g.19050016C>T	ENSP00000369899:p.Ala120Val	NA	B2R7L1|O00290|Q15347	37	CCDS6488.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479382	0.84747	.	.	ENSG00000155876	ENST00000380527	T	0.67523	-0.27	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.80696	0.4672	M	0.73753	2.245	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.80141	-0.1506	10	0.44086	T	0.13	-10.7655	16.1608	0.81704	0.0:1.0:0.0:0.0	.	120	Q7L523	RRAGA_HUMAN	V	120	ENSP00000369899:A120V	ENSP00000369899:A120V	A	+	2	0	RRAGA	19040016	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.320000	0.79064	2.770000	0.95276	0.655000	0.94253	GCC	RRAGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051824.1		+	ENST00000380527.1	Missense_Mutation	SNP	9 : 19050016 - 19050016 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	230	15
DUOX1	53905	broad.mit.edu	37	15	45431796	45431796	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45431796C>T	ENST00000321429.4	+	13	1795	c.1388C>T	c.(1387-1389)aCt>aTt	p.T463I	DUOX1_ENST00000561166.1_Splice_Site_p.T109I|DUOX1_ENST00000389037.3_Splice_Site_p.T463I	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	463	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		AGCAATGACACTGTGAGGAGG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	24	25			NA	NA	15		NA											NA				45431796		2198	4298	6496	SO:0001630	splice_region_variant			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857	53905	53905		EF-hand domain containing	3062	protein-coding gene	gene with protein product	NADPH thyroid oxidase 1, flavoprotein NADPH oxidase, nicotinamide adenine dinucleotide phosphate oxidase	606758			NA	10806195	Standard	NM_017434	XM_005254463	NA	Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.1389+1C>T	15.37:g.45431796C>T		NA	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	37	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	C	8.600	0.886650	0.17540	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	T;T	0.73152	-0.72;-0.72	5.72	2.71	0.32032	.	0.243293	0.39909	N	0.001234	T	0.52964	0.1767	N	0.25647	0.755	0.32324	N	0.562014	B	0.02656	0.0	B	0.10450	0.005	T	0.55535	-0.8126	10	0.54805	T	0.06	-0.7355	6.0181	0.19615	0.1547:0.6792:0.0:0.1661	.	463	Q9NRD9	DUOX1_HUMAN	I	463	ENSP00000317997:T463I;ENSP00000373689:T463I	ENSP00000317997:T463I	T	+	2	0	DUOX1	43219088	0.017000	0.18338	0.747000	0.31113	0.149000	0.21700	0.147000	0.16202	0.846000	0.35142	0.655000	0.94253	ACT	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416251.1	Missense_Mutation	+	ENST00000321429.4	Splice_Site	SNP	15 : 45431796 - 45431796 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	194	35
XDH	7498	broad.mit.edu	37	2	31560588	31560588	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31560588G>A	ENST00000379416.3	-	35	3918	c.3870C>T	c.(3868-3870)aaC>aaT	p.N1290N		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1290					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GTTCCTTCACGTTATTACCTG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(66;682 1445 30109 40147)							NA				0													110	96	101			NA	NA	2		NA											NA				31560588		2203	4300	6503	SO:0001819	synonymous_variant			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	7498	7498	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	xanthene dehydrogenase		NA	8224915	Standard	NM_000379	NM_000379	NA	Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3870C>T	2.37:g.31560588G>A		NA	Q16681|Q16712|Q4PJ16	37	CCDS1775.1																																																																																			XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216840.1		-	ENST00000379416.3	Silent	SNP	2 : 31560588 - 31560588 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	507	124
INPPL1	3636	broad.mit.edu	37	11	71941873	71941873	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71941873A>G	ENST00000298229.2	+	11	1435	c.1231A>G	c.(1231-1233)Atg>Gtg	p.M411V	INPPL1_ENST00000541756.1_Missense_Mutation_p.M169V|INPPL1_ENST00000538751.1_Missense_Mutation_p.M169V	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	411					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GTTGCAGCTCATGAAGAACAA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	57	61			NA	NA	11		NA											NA				71941873		2200	4293	6493	SO:0001583	missense			Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458	3636	3636		Sterile alpha motif (SAM) domain containing, SH2 domain containing	6080	protein-coding gene	gene with protein product	51C protein	600829			NA	8530088	Standard	NM_001567	NM_001567	NA	Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.1231A>G	11.37:g.71941873A>G	ENSP00000298229:p.Met411Val	NA	B2RTX5|Q13577|Q13578	37	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	a	16.23	3.063960	0.55432	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	D;D;D	0.94931	-3.56;-3.56;-3.56	5.55	5.55	0.83447	Endonuclease/exonuclease/phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.91768	0.7396	L	0.46157	1.445	0.43499	D	0.995749	P	0.43788	0.817	B	0.38500	0.275	D	0.92645	0.6128	10	0.87932	D	0	.	14.5252	0.67884	1.0:0.0:0.0:0.0	.	411	O15357	SHIP2_HUMAN	V	411;169;169	ENSP00000298229:M411V;ENSP00000446360:M169V;ENSP00000444619:M169V	ENSP00000298229:M411V	M	+	1	0	INPPL1	71619521	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.936000	0.92931	2.108000	0.64289	0.379000	0.24179	ATG	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396789.1		+	ENST00000298229.2	Missense_Mutation	SNP	11 : 71941873 - 71941873 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	318	60
DENND4B	9909	broad.mit.edu	37	1	153903473	153903473	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153903473G>A	ENST00000361217.4	-	25	4482	c.4064C>T	c.(4063-4065)aCc>aTc	p.T1355I	DENND4B_ENST00000474386.1_5'UTR	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1355										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGGGTCAGGGGTCAGTACATC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	38	37			NA	NA	1		NA											NA				153903473		1956	4136	6092	SO:0001583	missense			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837	9909	9909		DENN/MADD domain containing	29044	protein-coding gene	gene with protein product			KIAA0476	KIAA0476	NA	9455484, 12906859	Standard	XM_375806	NM_014856	NA	Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.4064C>T	1.37:g.153903473G>A	ENSP00000354597:p.Thr1355Ile	NA	Q5T4K0	37	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.882253	0.33255	.	.	ENSG00000198837	ENST00000361217	T	0.07216	3.21	5.14	4.22	0.49857	.	0.292538	0.36972	N	0.002305	T	0.02267	0.0070	N	0.22421	0.69	0.41915	D	0.990484	B	0.02656	0.0	B	0.04013	0.001	T	0.34030	-0.9845	10	0.42905	T	0.14	-17.3562	9.4167	0.38525	0.1661:0.0:0.8339:0.0	.	1355	O75064	DEN4B_HUMAN	I	1355	ENSP00000354597:T1355I	ENSP00000354597:T1355I	T	-	2	0	DENND4B	152170097	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.052000	0.41316	1.364000	0.46038	0.563000	0.77884	ACC	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090278.2		-	ENST00000361217.4	Missense_Mutation	SNP	1 : 153903473 - 153903473 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	130	38
PTP4A1	7803	broad.mit.edu	37	6	64289169	64289169	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64289169G>T	ENST00000370651.3	+	5	1490	c.337G>T	c.(337-339)Gta>Tta	p.V113L	PTP4A1_ENST00000370650.2_Intron	NM_003463.3	NP_003454.1	Q93096	TP4A1_HUMAN	protein tyrosine phosphatase type IVA, member 1	113	Interaction with ATF5 (By similarity).|Tyrosine-protein phosphatase.				cell cycle|multicellular organismal development	early endosome|endoplasmic reticulum|internal side of plasma membrane|spindle	protein binding|protein tyrosine phosphatase activity			large_intestine(3)|lung(4)|skin(1)	8	all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175)		Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13)			CAGAGCTCCAGTACTTGTTGC	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(91;1019 1502 28028 38110 51645)							NA				0													105	100	102			NA	NA	6		NA											NA				64289169		2203	4300	6503	SO:0001583	missense			U48296	CCDS4965.1	6q12	2011-06-09			ENSG00000112245	ENSG00000112245	7803	7803		Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs	9634	protein-coding gene	gene with protein product		601585			NA	9642300	Standard		NM_003463	NA	Approved	PTPCAAX1, PRL-1	uc003pel.3	Q93096	OTTHUMG00000014949	ENST00000370651.3:c.337G>T	6.37:g.64289169G>T	ENSP00000359685:p.Val113Leu	NA	B2R6C8|O00648|Q49A54	37	CCDS4965.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520784	0.85495	.	.	ENSG00000112245	ENST00000370651	D	0.85088	-1.94	5.96	5.96	0.96718	Protein-tyrosine phosphatase, receptor/non-receptor type (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.85492	0.5709	M	0.80028	2.48	0.80722	D	1	B	0.19445	0.036	B	0.30646	0.118	T	0.81807	-0.0763	10	0.62326	D	0.03	-15.7504	20.394	0.98981	0.0:0.0:1.0:0.0	.	113	Q93096	TP4A1_HUMAN	L	113	ENSP00000359685:V113L	ENSP00000359685:V113L	V	+	1	0	PTP4A1	64347128	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.966000	0.87956	2.830000	0.97506	0.585000	0.79938	GTA	PTP4A1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041083.2		+	ENST00000370651.3	Missense_Mutation	SNP	6 : 64289169 - 64289169 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	453	80
TLR1	7096	broad.mit.edu	37	4	38800334	38800334	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:38800334G>T	ENST00000502213.2	-	3	348	c.119C>A	c.(118-120)cCt>cAt	p.P40H	TLR1_ENST00000308979.2_Missense_Mutation_p.P40H			Q15399	TLR1_HUMAN	toll-like receptor 1	40					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TAGGTCTTTAGGAACGTGGAT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(5;216 373 40795 46382)							NA				0													74	81	79			NA	NA	4		NA											NA				38800334		2198	4298	6496	SO:0001583	missense			U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125	7096	7096		CD molecules	11847	protein-coding gene	gene with protein product		601194			NA	9435236, 7584026	Standard		NM_003263	NA	Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.119C>A	4.37:g.38800334G>T	ENSP00000421259:p.Pro40His	NA	O15452|Q32MK3|Q9UG90	37	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365940	0.82463	.	.	ENSG00000174125	ENST00000308979;ENST00000502213;ENST00000505940;ENST00000515861;ENST00000506146	T;T;T;D;D	0.88741	1.76;1.76;3.61;-2.42;-1.63	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000019	D	0.94915	0.8356	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95318	0.8418	10	0.87932	D	0	.	18.7107	0.91655	0.0:0.0:1.0:0.0	.	40	Q15399	TLR1_HUMAN	H	40	ENSP00000354932:P40H;ENSP00000421259:P40H;ENSP00000421856:P40H;ENSP00000423017:P40H;ENSP00000423725:P40H	ENSP00000354932:P40H	P	-	2	0	TLR1	38476729	1.000000	0.71417	0.983000	0.44433	0.025000	0.11179	6.830000	0.75319	2.713000	0.92767	0.655000	0.94253	CCT	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360510.3		-	ENST00000502213.2	Missense_Mutation	SNP	4 : 38800334 - 38800334 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	446	84
NAA25	80018	broad.mit.edu	37	12	112509748	112509748	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112509748C>A	ENST00000261745.4	-	10	1235	c.987G>T	c.(985-987)gaG>gaT	p.E329D		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	329						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GCCTAATCAGCTCCAATTTAG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	131	142			NA	NA	12		NA											NA				112509748		2203	4300	6503	SO:0001583	missense			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300	80018	80018		N(alpha)-acetyltransferase subunits	25783	protein-coding gene	gene with protein product		612755	chromosome 12 open reading frame 30	C12orf30	NA	19660095	Standard	NM_024953	NM_024953	NA	Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.987G>T	12.37:g.112509748C>A	ENSP00000261745:p.Glu329Asp	NA	A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	37	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489392	0.84962	.	.	ENSG00000111300	ENST00000261745	T	0.51817	0.69	5.8	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.64305	0.2586	M	0.78049	2.395	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.61327	-0.7085	10	0.23891	T	0.37	-15.658	9.4966	0.38993	0.0:0.7761:0.0:0.2239	.	329	Q14CX7	NAA25_HUMAN	D	329	ENSP00000261745:E329D	ENSP00000261745:E329D	E	-	3	2	NAA25	110994131	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.156000	0.31712	0.730000	0.32425	0.655000	0.94253	GAG	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405205.1		-	ENST00000261745.4	Missense_Mutation	SNP	12 : 112509748 - 112509748 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	236	62
TBC1D5	9779	broad.mit.edu	37	3	17418045	17418045	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:17418045G>T	ENST00000253692.7	-	10	2337	c.673C>A	c.(673-675)Cta>Ata	p.L225I	TBC1D5_ENST00000429924.2_Missense_Mutation_p.L177I|TBC1D5_ENST00000429383.4_Missense_Mutation_p.L225I|TBC1D5_ENST00000446818.2_Missense_Mutation_p.L225I|TBC1D5_ENST00000414318.2_Intron	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	225	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						CTGGCATGTAGAAAAGCTTGG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	100	98			NA	NA	3		NA											NA				17418045		2203	4300	6503	SO:0001583	missense			D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374	9779	9779			19166	protein-coding gene	gene with protein product		615740			NA	19531583	Standard	NM_014744	NM_014744	NA	Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.673C>A	3.37:g.17418045G>T	ENSP00000253692:p.Leu225Ile	NA	A6NP25	37	CCDS33714.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269862	0.40095	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	T;T;T;T	0.44482	1.48;1.48;1.48;0.92	4.97	4.08	0.47627	Rab-GAP/TBC domain (4);	0.221938	0.39834	N	0.001255	T	0.36110	0.0955	L	0.29908	0.895	0.33777	D	0.62378	B;P;B	0.37688	0.038;0.605;0.237	B;P;B	0.48334	0.071;0.574;0.292	T	0.47674	-0.9099	10	0.37606	T	0.19	-11.6177	4.6907	0.12780	0.3169:0.0:0.6831:0.0	.	177;225;225	C9J3F6;C9JP52;Q92609	.;.;TBCD5_HUMAN	I	225;225;225;177	ENSP00000253692:L225I;ENSP00000398127:L225I;ENSP00000402935:L225I;ENSP00000411925:L177I	ENSP00000253692:L225I	L	-	1	2	TBC1D5	17393049	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.804000	0.62554	2.319000	0.78375	0.585000	0.79938	CTA	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340301.3		-	ENST00000253692.7	Missense_Mutation	SNP	3 : 17418045 - 17418045 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	74
DCHS1	8642	broad.mit.edu	37	11	6646958	6646958	+	Splice_Site	SNP	C	C	T	rs148800772	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6646958C>T	ENST00000299441.3	-	18	7143	c.6732G>A	c.(6730-6732)cgG>cgA	p.R2244R		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2244	Cadherin 21.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAGCACCAACCTGGACACAA	0.587		NA											C	9	0.0041	0.02	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0041	1	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0								C		97,4305	77.3+/-115.6	1,95,2105	38	37	37		6732	1.8	1	11	dbSNP_134	37	3,8589	3.0+/-9.4	0,3,4293	yes	coding-synonymous-near-splice	DCHS1	NM_003737.2		1,98,6398	TT,TC,CC	NA	0.0349,2.2035,0.7696		2244/3299	6646958	100,12894	2201	4296	6497	SO:0001630	splice_region_variant			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341	8642	8642		Cadherins / Cadherin-related	13681	protein-coding gene	gene with protein product	cadherin-related family member 6	603057	protocadherin 16, dachsous 1 (Drosophila)	CDH25, PCDH16	NA	9199196	Standard	NM_003737	XM_005253207	NA	Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.6732-1G>A	11.37:g.6646958C>T		NA	O15098	37	CCDS7771.1																																																																																			DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257258.1	Silent	-	ENST00000299441.3	Splice_Site	SNP	11 : 6646958 - 6646958 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	204	31
C3	718	broad.mit.edu	37	19	6696635	6696635	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6696635A>C	ENST00000245907.6	-	22	2924	c.2832T>G	c.(2830-2832)gtT>gtG	p.V944V		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	944					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CCAGGGTGCGAACAGCCACAG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	161	163			NA	NA	19		NA											NA				6696635		2203	4300	6503	SO:0001819	synonymous_variant			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	718	718	3.4.21.43	Complement system, Endogenous ligands	1318	protein-coding gene	gene with protein product	C3a anaphylatoxin, complement component C3a, complement component C3b, prepro-C3	120700			NA		Standard	NM_000064	NM_000064	NA	Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2832T>G	19.37:g.6696635A>C		NA	A7E236	37	CCDS32883.1																																																																																			C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317636.2		-	ENST00000245907.6	Silent	SNP	19 : 6696635 - 6696635 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1629	271
PGK1	5230	broad.mit.edu	37	X	77369532	77369532	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77369532G>T	ENST00000373316.4	+	4	459	c.292G>T	c.(292-294)Gac>Tac	p.D98Y	PGK1_ENST00000442431.1_Intron|PGK1_ENST00000537456.1_Missense_Mutation_p.D70Y	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	98					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						GTTCTTGAAGGACTGTGTAGG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	126	125			NA	NA	X		NA											NA				77369532		2203	4297	6500	SO:0001583	missense			L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	5230	5230	2.7.2.3		8896	protein-coding gene	gene with protein product		311800			NA	6188151, 6099325	Standard		NM_000291	NA	Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.292G>T	X.37:g.77369532G>T	ENSP00000362413:p.Asp98Tyr	NA	Q5J7W1|Q6IBT6|Q8NI87	37	CCDS14438.1	.	.	.	.	.	.	.	.	.	.	g	21.3	4.121848	0.77436	.	.	ENSG00000102144	ENST00000373316;ENST00000537456	D;D	0.94184	-3.37;-3.37	4.98	4.98	0.66077	Phosphoglycerate kinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97870	0.9300	H	0.99838	4.83	0.58432	D	0.999999	P	0.48834	0.916	P	0.51974	0.686	D	0.99675	1.0997	10	0.87932	D	0	-12.4287	16.5542	0.84481	0.0:0.0:1.0:0.0	.	98	P00558	PGK1_HUMAN	Y	98;70	ENSP00000362413:D98Y;ENSP00000444708:D70Y	ENSP00000362413:D98Y	D	+	1	0	PGK1	77256188	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.214000	0.95140	2.197000	0.70478	0.591000	0.81541	GAC	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057310.1		+	ENST00000373316.4	Missense_Mutation	SNP	X : 77369532 - 77369532 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	842	65
ITGA1	3672	broad.mit.edu	37	5	52229781	52229781	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52229781T>C	ENST00000282588.6	+	23	3377	c.2919T>C	c.(2917-2919)atT>atC	p.I973I	CTD-2175A23.1_ENST00000503559.1_RNA|CTD-2175A23.1_ENST00000505701.1_RNA	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	973					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CTGAAGTTATTAATTCTACTG	0.269		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	46	44			NA	NA	5		NA											NA				52229781		2199	4279	6478	SO:0001819	synonymous_variant			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949	3672	3672		CD molecules, Integrins	6134	protein-coding gene	gene with protein product		192968			NA	8428973, 11937138	Standard	NM_181501	NM_181501	NA	Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.2919T>C	5.37:g.52229781T>C		NA	B2RNU0	37	CCDS3955.1																																																																																			ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253855.3		+	ENST00000282588.6	Silent	SNP	5 : 52229781 - 52229781 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	330	34
MUC17	140453	broad.mit.edu	37	7	100679840	100679840	+	Missense_Mutation	SNP	G	G	A	rs149023842	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100679840G>A	ENST00000306151.4	+	3	5207	c.5143G>A	c.(5143-5145)Gtt>Att	p.V1715I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1715	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					AACAACTCCCGTTGACAACAG	0.468		NA											G	3	0.0014	NA	0.0028	2184	NA	1	,	,	NA	3e-04	0.0026	NA	NA	0.0014	1	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				0								G	ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	216	226	222		5143	-1.4	0	7	dbSNP_134	222	23,8577	16.0+/-53.3	1,21,4278	no	missense	MUC17	NM_001040105.1	29	1,24,6478	AA,AG,GG	NA	0.2674,0.0681,0.1999	benign	1715/4494	100679840	26,12980	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.5143G>A	7.37:g.100679840G>A	ENSP00000302716:p.Val1715Ile	NA	O14761|Q685J2|Q8TDH7	37	CCDS34711.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	G	3.260	-0.151386	0.06585	6.81E-4	0.002674	ENSG00000169876	ENST00000306151	T	0.02103	4.45	1.19	-1.39	0.08997	.	.	.	.	.	T	0.01320	0.0043	N	0.14661	0.345	0.09310	N	1	B	0.25609	0.13	B	0.09377	0.004	T	0.47649	-0.9101	9	0.30078	T	0.28	.	4.7501	0.13056	0.3491:0.0:0.6509:0.0	.	1715	Q685J3	MUC17_HUMAN	I	1715	ENSP00000302716:V1715I	ENSP00000302716:V1715I	V	+	1	0	MUC17	100466560	0.063000	0.20901	0.000000	0.03702	0.004000	0.04260	1.975000	0.40569	-0.376000	0.07943	0.134000	0.15878	GTT	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347161.1		+	ENST00000306151.4	Missense_Mutation	SNP	7 : 100679840 - 100679840 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2226	457
CASP4	837	broad.mit.edu	37	11	104822727	104822727	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104822727G>A	ENST00000393150.3	-	3	362	c.100C>T	c.(100-102)Ccg>Tcg	p.P34S	CASP4_ENST00000531333.1_Intron|CASP4_ENST00000444739.2_Missense_Mutation_p.P90S	NM_033306.2	NP_150649.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	90	CARD.				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		TCCATATTCGGATGAGCTGCA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	80	83			NA	NA	11		NA											NA				104822727		2202	4299	6501	SO:0001583	missense			U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954	837	837		Caspases	1505	protein-coding gene	gene with protein product		602664	caspase 4, apoptosis-related cysteine protease		NA	7797510, 9250871	Standard	NM_001225	NM_001225	NA	Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000393150.3:c.100C>T	11.37:g.104822727G>A	ENSP00000376857:p.Pro34Ser	NA		37	CCDS41704.1	.	.	.	.	.	.	.	.	.	.	G	0.753	-0.772249	0.02951	.	.	ENSG00000196954	ENST00000444739;ENST00000393150;ENST00000355546;ENST00000417440	T;T;T	0.07800	4.88;4.52;3.16	3.9	-6.11	0.02131	DEATH-like (1);	1.198120	0.05940	N	0.636805	T	0.02304	0.0071	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.0;0.002;0.001	T	0.46176	-0.9210	10	0.09590	T	0.72	.	6.0759	0.19915	0.3684:0.2838:0.3478:0.0	.	90;90;90	B4DJH5;B4E2D2;P49662	.;.;CASP4_HUMAN	S	90;34;43;90	ENSP00000388566:P90S;ENSP00000376857:P34S;ENSP00000401673:P90S	ENSP00000347741:P43S	P	-	1	0	CASP4	104327937	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.784000	0.04633	-0.969000	0.03573	-0.216000	0.12614	CCG	CASP4-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387752.1		-	ENST00000393150.3	Missense_Mutation	SNP	11 : 104822727 - 104822727 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	347	69
CIT	11113	broad.mit.edu	37	12	120195263	120195263	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120195263C>T	ENST00000392521.2	-	22	2673	c.2618G>A	c.(2617-2619)cGa>cAa	p.R873Q	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.R831Q	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	831					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTCCAGTTTTCGGTTCTGGGC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													182	172	175			NA	NA	12		NA											NA				120195263		2203	4300	6503	SO:0001583	missense			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966	11113	11113			1985	protein-coding gene	gene with protein product	serine/threonine kinase 21	605629	citron (rho-interacting, serine/threonine kinase 21)		NA	9792683	Standard	NM_007174	NM_001206999	NA	Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000392521.2:c.2618G>A	12.37:g.120195263C>T	ENSP00000376306:p.Arg873Gln	NA	Q6XUH8|Q86UQ9|Q9UPZ7	37	CCDS55891.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.53|13.53	2.266140|2.266140	0.40095|0.40095	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|T;T	.|0.65549	.|-0.09;-0.16	5.54|5.54	4.65|4.65	0.58169|0.58169	.|.	.|0.334286	.|0.29444	.|N	.|0.012140	T|T	0.33527|0.33527	0.0866|0.0866	N|N	0.03608|0.03608	-0.345|-0.345	0.34945|0.34945	D|D	0.750651|0.750651	.|B;B;B	.|0.09022	.|0.002;0.001;0.001	.|B;B;B	.|0.04013	.|0.0;0.001;0.0	T|T	0.34477|0.34477	-0.9827|-0.9827	5|10	.|0.13853	.|T	.|0.58	.|.	8.5349|8.5349	0.33357|0.33357	0.0:0.7713:0.0:0.2287|0.0:0.7713:0.0:0.2287	.|.	.|873;831;364	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	K|Q	459|873;831	.|ENSP00000376306:R873Q;ENSP00000261833:R831Q	.|ENSP00000261833:R831Q	E|R	-|-	1|2	0|0	CIT|CIT	118679646|118679646	0.998000|0.998000	0.40836|0.40836	0.996000|0.996000	0.52242|0.52242	0.998000|0.998000	0.95712|0.95712	3.232000|3.232000	0.51302|0.51302	1.342000|1.342000	0.45619|0.45619	0.655000|0.655000	0.94253|0.94253	GAA|CGA	CIT-005	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401847.1		-	ENST00000392521.2	Missense_Mutation	SNP	12 : 120195263 - 120195263 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1041	263
PDZRN3	23024	broad.mit.edu	37	3	73433639	73433639	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:73433639C>T	ENST00000479530.1	-	8	1425	c.1229G>A	c.(1228-1230)cGc>cAc	p.R410H	PDZRN3_ENST00000535920.1_Missense_Mutation_p.R415H|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R350H|PDZRN3_ENST00000263666.4_Missense_Mutation_p.R693H|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R350H			Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	693							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTCGATGCTGCGCAGCTCTTC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	32	34			NA	NA	3		NA											NA				73433639		2203	4300	6503	SO:0001583	missense			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440	23024	23024		RING-type (C3HC4) zinc fingers	17704	protein-coding gene	gene with protein product	likely ortholog of mouse semaF cytoplasmic domain associated protein 3	609729			NA	10470851	Standard	XM_041363	XM_005264718	NA	Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000479530.1:c.1229G>A	3.37:g.73433639C>T	ENSP00000418624:p.Arg410His	NA	A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	37		.	.	.	.	.	.	.	.	.	.	C	16.68	3.189810	0.57909	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000492909	T;T;T;T;T;T	0.18657	2.2;2.94;2.86;2.86;2.96;2.83	5.01	5.01	0.66863	.	0.053685	0.85682	D	0.000000	T	0.25606	0.0623	L	0.52206	1.635	0.80722	D	1	P;B;B;B	0.45283	0.855;0.163;0.373;0.163	P;B;B;B	0.46144	0.505;0.021;0.066;0.021	T	0.01159	-1.1433	10	0.49607	T	0.09	.	11.4627	0.50219	0.0:0.9168:0.0:0.0832	.	415;410;410;693	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	H	693;415;350;350;410;391	ENSP00000263666:R693H;ENSP00000442026:R415H;ENSP00000418168:R350H;ENSP00000418484:R350H;ENSP00000418624:R410H;ENSP00000419250:R391H	ENSP00000263666:R693H	R	-	2	0	PDZRN3	73516329	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.866000	0.69590	2.324000	0.78689	0.655000	0.94253	CGC	PDZRN3-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000352465.1		-	ENST00000479530.1	Missense_Mutation	SNP	3 : 73433639 - 73433639 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	291	55
L2HGDH	79944	broad.mit.edu	37	14	50768820	50768820	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50768820A>G	ENST00000261699.4	-	3	340	c.323T>C	c.(322-324)cTg>cCg	p.L108P	L2HGDH_ENST00000556393.1_5'UTR|L2HGDH_ENST00000267436.4_Missense_Mutation_p.L108P|L2HGDH_ENST00000421284.3_Missense_Mutation_p.L108P|L2HGDH_ENST00000555610.1_Missense_Mutation_p.L108P|L2HGDH_ENST00000555423.1_Missense_Mutation_p.L108P			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	108					2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					TTTGGCTTTCAGAGACTCAGG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	143	145			NA	NA	14		NA											NA				50768820		2203	4300	6503	SO:0001583	missense				CCDS9698.1	14q22.1	2006-04-28	2005-05-25	2005-05-25	ENSG00000087299	ENSG00000087299	79944	79944	1.1.99.2		20499	protein-coding gene	gene with protein product	2-hydroxyglutarate dehydrogenase	609584	chromosome 14 open reading frame 160	C14orf160	NA	16005139	Standard	NM_024884	NM_024884	NA	Approved	FLJ12618	uc001wxu.3	Q9H9P8	OTTHUMG00000140289	ENST00000261699.4:c.323T>C	14.37:g.50768820A>G	ENSP00000261699:p.Leu108Pro	NA	Q9BRR1	37		.	.	.	.	.	.	.	.	.	.	A	24.1	4.498281	0.85069	.	.	ENSG00000087299	ENST00000261699;ENST00000267436;ENST00000421284;ENST00000557131;ENST00000555423;ENST00000555610	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	5.55	5.55	0.83447	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.93916	0.8053	H	0.98370	4.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96226	0.9164	10	0.87932	D	0	-10.6461	16.008	0.80377	1.0:0.0:0.0:0.0	.	108;108	C9JVN9;Q9H9P8	.;L2HDH_HUMAN	P	108	ENSP00000261699:L108P;ENSP00000267436:L108P;ENSP00000405559:L108P;ENSP00000450494:L108P;ENSP00000452483:L108P	ENSP00000261699:L108P	L	-	2	0	L2HGDH	49838570	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	9.089000	0.94137	2.250000	0.74265	0.533000	0.62120	CTG	L2HGDH-002	KNOWN	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000276871.1		-	ENST00000261699.4	Missense_Mutation	SNP	14 : 50768820 - 50768820 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	577	110
DCT	1638	broad.mit.edu	37	13	95118886	95118886	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95118886C>A	ENST00000377028.5	-	3	1035	c.622G>T	c.(622-624)Gat>Tat	p.D208Y	DCT_ENST00000490854.1_5'UTR|DCT_ENST00000446125.1_Missense_Mutation_p.D208Y	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	208					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TGTGAGAAATCTATGGCCCTG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	63	63			NA	NA	13		NA											NA				95118886		2203	4300	6503	SO:0001583	missense			D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	1638	1638	5.3.3.12		2709	protein-coding gene	gene with protein product	dopachrome delta-isomerase	191275	tyrosine-related protein 2	TYRP2	NA	8306979	Standard		NM_001922	NA	Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.622G>T	13.37:g.95118886C>A	ENSP00000366227:p.Asp208Tyr	NA		37	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953366	0.92660	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.99060	-5.38;-5.38	5.7	5.7	0.88788	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.000000	0.85682	D	0.000000	D	0.99426	0.9797	M	0.89163	3.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	D	0.98965	1.0799	10	0.87932	D	0	-24.8267	19.8418	0.96692	0.0:1.0:0.0:0.0	.	208;208	Q09GT4;P40126	.;TYRP2_HUMAN	Y	208	ENSP00000366227:D208Y;ENSP00000392762:D208Y	ENSP00000366227:D208Y	D	-	1	0	DCT	93916887	1.000000	0.71417	0.973000	0.42090	0.979000	0.70002	7.802000	0.85969	2.685000	0.91497	0.561000	0.74099	GAT	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045461.3		-	ENST00000377028.5	Missense_Mutation	SNP	13 : 95118886 - 95118886 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	242	39
KDM5B	10765	broad.mit.edu	37	1	202742404	202742404	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202742404C>T	ENST00000367265.3	-	4	1582	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	KDM5B_ENST00000367264.2_Missense_Mutation_p.E140K	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	140	ARID.				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AATCCACCTTCTTCTGCAACT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	104	108			NA	NA	1		NA											NA				202742404		2203	4300	6503	SO:0001583	missense			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139	10765	10765		Chromatin-modifying enzymes / K-demethylases, Zinc fingers, PHD-type	18039	protein-coding gene	gene with protein product	cancer/testis antigen 31, protein phosphatase 1, regulatory subunit 98	605393	Jumonji, AT rich interactive domain 1B (RBP2-like), jumonji, AT rich interactive domain 1B	JARID1B	NA	11483573, 11478881	Standard	NM_006618	NM_006618	NA	Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.418G>A	1.37:g.202742404C>T	ENSP00000356234:p.Glu140Lys	NA	O95811|Q15752|Q9Y3Q5	37	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488816	0.84962	.	.	ENSG00000117139	ENST00000367265;ENST00000367264	T;T	0.62941	-0.01;-0.01	5.79	5.79	0.91817	ARID/BRIGHT DNA-binding domain (5);	0.092379	0.85682	D	0.000000	T	0.59445	0.2194	L	0.38531	1.155	0.58432	D	0.999997	P;B	0.45569	0.861;0.104	P;B	0.45712	0.491;0.262	T	0.57347	-0.7827	10	0.36615	T	0.2	-25.1694	16.9763	0.86314	0.0:0.8728:0.1272:0.0	.	140;140	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	K	140	ENSP00000356234:E140K;ENSP00000356233:E140K	ENSP00000356233:E140K	E	-	1	0	KDM5B	201009027	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.118000	0.71583	2.740000	0.93945	0.563000	0.77884	GAA	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000099184.2		-	ENST00000367265.3	Missense_Mutation	SNP	1 : 202742404 - 202742404 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	470	38
NLRP13	126204	broad.mit.edu	37	19	56423953	56423953	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56423953C>T	ENST00000588751.1	-	5	1254	c.1230G>A	c.(1228-1230)caG>caA	p.Q410Q	NLRP13_ENST00000342929.3_Silent_p.Q410Q			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	410	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TTCTTAGCTGCTGCAGGATTT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	89	87			NA	NA	19		NA											NA				56423953		2203	4300	6503	SO:0001819	synonymous_variant			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572	126204	126204		Nucleotide-binding domain and leucine rich repeat containing	22937	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13	609660	NACHT, leucine rich repeat and PYD containing 13	NALP13	NA	12563287	Standard	NM_176810	NM_176810	NA	Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000588751.1:c.1230G>A	19.37:g.56423953C>T		NA	Q7RTR5	37																																																																																				NLRP13-003	NOVEL	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000457461.1		-	ENST00000588751.1	Silent	SNP	19 : 56423953 - 56423953 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	429	90
ZNF677	342926	broad.mit.edu	37	19	53741428	53741428	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53741428C>T	ENST00000598513.1	-	5	702	c.552G>A	c.(550-552)gtG>gtA	p.V184V	ZNF677_ENST00000333952.4_Silent_p.V184V	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		CAAAACACTTCACGTATTTGT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	68	69			NA	NA	19		NA											NA				53741428		2202	4300	6502	SO:0001819	synonymous_variant			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928	342926	342926		Zinc fingers, C2H2-type, -	28730	protein-coding gene	gene with protein product	hypothetical protein MGC48625				NA	12477932	Standard	NM_182609	NM_182609	NA	Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.552G>A	19.37:g.53741428C>T		NA		37	CCDS12861.1																																																																																			ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464189.1		-	ENST00000598513.1	Silent	SNP	19 : 53741428 - 53741428 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	10
CNOT3	4849	broad.mit.edu	37	19	54652176	54652176	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54652176C>T	ENST00000406403.1	+	10	2791	c.1188C>T	c.(1186-1188)agC>agT	p.S396S	CNOT3_ENST00000358389.3_Silent_p.S215S|CNOT3_ENST00000221232.5_Silent_p.S396S			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	396					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCCAGCCTAgcggaggcggag	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		3,4053		0,3,2025	6	8	7		1188	-3.9	0	19		7	2,7984		0,2,3991	no	coding-synonymous	CNOT3	NM_014516.3		0,5,6016	TT,TC,CC	NA	0.025,0.074,0.0415		396/754	54652176	5,12037	2028	3993	6021	SO:0001819	synonymous_variant			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038	4849	4849			7879	protein-coding gene	gene with protein product	NOT3 (negative regulator of transcription 3, yeast) homolog	604910		NOT3	NA	10637334, 9734811	Standard	NM_014516	NM_014516	NA	Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.1188C>T	19.37:g.54652176C>T		NA	Q9NZN7|Q9UF76	37	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	c	0.073	-1.198728	0.01581	7.4E-4	2.5E-4	ENSG00000088038	ENST00000440571	.	.	.	3.15	-3.94	0.04130	.	.	.	.	.	T	0.21631	0.0521	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.30446	-0.9978	4	.	.	.	-2.0331	5.4076	0.16330	0.0:0.3536:0.1466:0.4998	.	.	.	.	V	318	.	.	A	+	2	0	CNOT3	59343988	0.002000	0.14202	0.001000	0.08648	0.018000	0.09664	-1.357000	0.02607	-0.906000	0.03866	-0.436000	0.05848	GCG	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000142130.3		+	ENST00000406403.1	Silent	SNP	19 : 54652176 - 54652176 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	130	28
TTN	7273	broad.mit.edu	37	2	179598615	179598615	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179598615A>G	ENST00000589042.1	-	53	15725	c.15501T>C	c.(15499-15501)ccT>ccC	p.P5167P	TTN_ENST00000342992.6_Silent_p.P3923P|TTN_ENST00000591111.1_Silent_p.P4850P|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4850	Ig-like 32.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAAGGTTGGAGGTTCTAGTT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	48	48			NA	NA	2		NA											NA				179598615		1869	4102	5971	SO:0001819	synonymous_variant			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.15501T>C	2.37:g.179598615A>G		NA	E7ET18	37	CCDS59435.1																																																																																			TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Silent	SNP	2 : 179598615 - 179598615 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	277	75
DPY19L3	147991	broad.mit.edu	37	19	32971376	32971376	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:32971376C>T	ENST00000342179.5	+	18	2117	c.1902C>T	c.(1900-1902)taC>taT	p.Y634Y	DPY19L3_ENST00000586987.1_Silent_p.Y634Y|DPY19L3_ENST00000392250.2_Silent_p.Y634Y	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	634						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					GCACTGACTACGTAATCCTGG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	63	64			NA	NA	19		NA											NA				32971376		2203	4300	6503	SO:0001819	synonymous_variant				CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904	147991	147991			27120	protein-coding gene	gene with protein product		613894			NA		Standard	NM_207325	NM_207325	NA	Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.1902C>T	19.37:g.32971376C>T		NA	Q68DC7|Q6ZTB7|Q6ZTS2	37	CCDS12422.1																																																																																			DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450311.1		+	ENST00000342179.5	Silent	SNP	19 : 32971376 - 32971376 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	284	9
TNR	7143	broad.mit.edu	37	1	175331945	175331945	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175331945A>C	ENST00000367674.2	-	14	3416	c.2708T>G	c.(2707-2709)gTg>gGg	p.V903G	TNR_ENST00000263525.2_Splice_Site_p.V903G			Q92752	TENR_HUMAN	tenascin R	NA	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.V903G(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TAGTCGTCCCACTGGAGAAGA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(2)											158	148	151			NA	NA	1		NA											NA				175331945		2203	4300	6503	SO:0001630	splice_region_variant			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147	7143	7143		Fibrinogen C domain containing, Fibronectin type III domain containing	11953	protein-coding gene	gene with protein product	restrictin, janusin	601995			NA	8626505, 8940128	Standard	NM_003285	NM_003285	NA	Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2708-1T>G	1.37:g.175331945A>C		NA	C9J563|Q15568|Q5R3G0	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	A	8.296	0.818804	0.16607	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.50001	0.76;0.76	5.79	5.79	0.91817	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000091	T	0.16171	0.0389	N	0.01197	-0.965	0.58432	D	0.999991	P	0.34462	0.454	B	0.34931	0.192	T	0.35724	-0.9777	10	0.05721	T	0.95	.	7.4796	0.27398	0.8761:0.0:0.1239:0.0	.	903	Q92752	TENR_HUMAN	G	903;903;813	ENSP00000356646:V903G;ENSP00000263525:V903G	ENSP00000263525:V903G	V	-	2	0	TNR	173598568	1.000000	0.71417	0.999000	0.59377	0.816000	0.46133	3.967000	0.56802	2.205000	0.71048	0.528000	0.53228	GTG	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084414.4	Missense_Mutation	-	ENST00000367674.2	Splice_Site	SNP	1 : 175331945 - 175331945 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	532	11
RANGAP1	5905	broad.mit.edu	37	22	41650462	41650462	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41650462T>C	ENST00000455915.2	-	10	2579	c.1110A>G	c.(1108-1110)gaA>gaG	p.E370E	RANGAP1_ENST00000407260.4_Silent_p.E315E|RANGAP1_ENST00000356244.3_Silent_p.E370E|RANGAP1_ENST00000405486.1_Silent_p.E370E			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	370	Asp/Glu-rich (highly acidic).				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						cttcttcctcttctccttcct	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	128	138			NA	NA	22		NA											NA				41650462		2203	4300	6503	SO:0001819	synonymous_variant			X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401	5905	5905			9854	protein-coding gene	gene with protein product		602362	segregation distorter homolog (Drosophila)	SD	NA	7878053	Standard	NM_002883	NM_002883	NA	Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1110A>G	22.37:g.41650462T>C		NA	Q96JJ2	37	CCDS14012.1																																																																																			RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320606.1		-	ENST00000455915.2	Silent	SNP	22 : 41650462 - 41650462 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	605	115
TOPORS	10210	broad.mit.edu	37	9	32542990	32542990	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32542990C>T	ENST00000360538.2	-	3	1649	c.1533G>A	c.(1531-1533)gaG>gaA	p.E511E	TOPORS_ENST00000379858.1_Silent_p.E446E	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	511	Interaction with SUMO1.|Interaction with TOP1.|Interaction with p53/TP53.|Required for sumoylation and localization to discrete nuclear foci.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TCTTCACTGTCTCCATTTTCT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	84	89			NA	NA	9		NA											NA				32542990		2203	4300	6503	SO:0001819	synonymous_variant			AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579	10210	10210		RING-type (C3HC4) zinc fingers	21653	protein-coding gene	gene with protein product		609507	retinitis pigmentosa 31 (autosomal dominant), topoisomerase I binding, arginine/serine-rich	RP31	NA	10352183, 12083797, 17924349	Standard	NM_005802	NM_005802	NA	Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.1533G>A	9.37:g.32542990C>T		NA	O43273|Q6P987|Q9NS55|Q9UNR9	37	CCDS6527.1																																																																																			TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052007.1		-	ENST00000360538.2	Silent	SNP	9 : 32542990 - 32542990 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	422	57
NHSL2	340527	broad.mit.edu	37	X	71360063	71360063	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:71360063C>T	ENST00000373677.1	+	2	2829	c.1567C>T	c.(1567-1569)Cca>Tca	p.P523S	NHSL2_ENST00000540800.1_Missense_Mutation_p.P889S|NHSL2_ENST00000510661.1_Missense_Mutation_p.P658S|NHSL2_ENST00000535692.1_Missense_Mutation_p.P523S			F5H593	F5H593_HUMAN	NHS-like 2	889										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CCACAAGCCACCATCTGTTCC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	66	73			NA	NA	X		NA											NA				71360063		2203	4300	6503	SO:0001583	missense					Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131	340527	340527			33737	protein-coding gene	gene with protein product					NA		Standard	NM_001013627	NM_001013627	NA	Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.1567C>T	X.37:g.71360063C>T	ENSP00000362781:p.Pro523Ser	NA		37		.	.	.	.	.	.	.	.	.	.	C	9.521	1.108197	0.20714	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.47528	1.48;0.84;0.84;0.84	5.35	3.52	0.40303	.	0.397307	0.22843	N	0.054947	T	0.41119	0.1145	L	0.59436	1.845	0.39895	D	0.973823	B;B;B	0.24426	0.061;0.103;0.061	B;B;B	0.23419	0.046;0.046;0.029	T	0.26538	-1.0100	10	0.36615	T	0.2	-1.8731	7.8044	0.29193	0.1603:0.7517:0.0:0.088	.	889;658;523	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	S	889;523;658;523	ENSP00000444617:P889S;ENSP00000362781:P523S;ENSP00000424079:P658S;ENSP00000444914:P523S	ENSP00000362781:P523S	P	+	1	0	NHSL2	71276788	1.000000	0.71417	0.931000	0.37212	0.720000	0.41350	1.944000	0.40263	0.677000	0.31305	0.600000	0.82982	CCA	NHSL2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000057170.1		+	ENST00000373677.1	Missense_Mutation	SNP	X : 71360063 - 71360063 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	213	25
C1orf74	148304	broad.mit.edu	37	1	209956266	209956266	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209956266C>A	ENST00000294811.1	-	2	970	c.714G>T	c.(712-714)tgG>tgT	p.W238C		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	238										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		GGTCCTTCTCCCAGGTGTTTA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	92	89			NA	NA	1		NA											NA				209956266		2203	4300	6503	SO:0001583	missense			AK057807	CCDS1491.1	1q32.2	2008-02-05			ENSG00000162757	ENSG00000162757	148304	148304			26319	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152485	NM_152485	NA	Approved	FLJ25078	uc001hhp.1	Q96LT6	OTTHUMG00000036483	ENST00000294811.1:c.714G>T	1.37:g.209956266C>A	ENSP00000294811:p.Trp238Cys	NA		37	CCDS1491.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246145	0.80024	.	.	ENSG00000162757	ENST00000294811	T	0.65178	-0.14	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.79476	0.4452	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80243	-0.1463	10	0.87932	D	0	-48.2684	19.9376	0.97146	0.0:1.0:0.0:0.0	.	238	Q96LT6	CA074_HUMAN	C	238	ENSP00000294811:W238C	ENSP00000294811:W238C	W	-	3	0	C1orf74	208022889	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.960000	0.76036	2.711000	0.92665	0.655000	0.94253	TGG	C1orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088745.1		-	ENST00000294811.1	Missense_Mutation	SNP	1 : 209956266 - 209956266 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	575	84
CACNA2D4	93589	broad.mit.edu	37	12	1992050	1992050	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1992050C>T	ENST00000382722.5	-	13	1830	c.1468G>A	c.(1468-1470)Gcc>Acc	p.A490T	CACNA2D4_ENST00000585732.1_Missense_Mutation_p.A375T|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.A490T|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.A426T|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.A426T|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.A490T	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	490	Cache.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TCCATGTAGGCCTCTGTCCAG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(2;101 179 21030 23310 28141)							NA				0													80	85	83			NA	NA	12		NA											NA				1992050		2134	4259	6393	SO:0001583	missense			AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062	93589	93589		Calcium channel subunits	20202	protein-coding gene	gene with protein product		608171			NA	12181424	Standard		NM_172364	NA	Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1468G>A	12.37:g.1992050C>T	ENSP00000372169:p.Ala490Thr	NA	Q7Z3S8|Q86XZ5|Q8IZS9	37	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	C	33	5.211218	0.95069	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.08102	3.13	5.29	5.29	0.74685	Cache (1);	0.000000	0.85682	D	0.000000	T	0.29684	0.0741	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	0.989;1.0	D;D	0.97110	0.941;1.0	T	0.00948	-1.1504	10	0.59425	D	0.04	.	18.9435	0.92612	0.0:1.0:0.0:0.0	.	490;490	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	T	426;490;490	ENSP00000372169:A490T	ENSP00000280663:A490T	A	-	1	0	CACNA2D4	1862311	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.487000	0.81328	2.457000	0.83068	0.462000	0.41574	GCC	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398230.2		-	ENST00000382722.5	Missense_Mutation	SNP	12 : 1992050 - 1992050 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	167	25
STXBP6	29091	broad.mit.edu	37	14	25288317	25288317	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:25288317G>A	ENST00000323944.5	-	5	986	c.535C>T	c.(535-537)Cga>Tga	p.R179*	STXBP6_ENST00000550887.1_Nonsense_Mutation_p.R179*|STXBP6_ENST00000419632.2_Nonsense_Mutation_p.R179*|STXBP6_ENST00000396700.1_Nonsense_Mutation_p.R179*|STXBP6_ENST00000548724.1_Nonsense_Mutation_p.R179*|STXBP6_ENST00000358326.2_Nonsense_Mutation_p.R179*|STXBP6_ENST00000546511.1_Nonsense_Mutation_p.R179*|STXBP6_ENST00000548369.1_Nonsense_Mutation_p.R77*			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	179	v-SNARE coiled-coil homology.				vesicle-mediated transport	cytoplasm|integral to membrane				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		CGGCCTAATCGCTCTCCACGC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													184	157	166			NA	NA	14		NA											NA				25288317		2203	4300	6503	SO:0001587	stop_gained			AF161505	CCDS9634.1	14q11.2	2002-12-18			ENSG00000168952	ENSG00000168952	NA	29091			19666	protein-coding gene	gene with protein product		607958			NA	12145319	Standard		NM_014178	NA	Approved	amisyn, HSPC156	uc001wpu.3	Q8NFX7	OTTHUMG00000140186	ENST00000323944.5:c.535C>T	14.37:g.25288317G>A	ENSP00000324302:p.Arg179*	NA	D3DS78|Q8N3H1|Q8N8D5|Q96GF3|Q9P008	37	CCDS9634.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000043	0.54147	.	.	ENSG00000168952	ENST00000396700;ENST00000548724;ENST00000323944;ENST00000419632;ENST00000546511;ENST00000550887;ENST00000548369;ENST00000358326	.	.	.	5.35	2.14	0.27477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-10.9822	14.3759	0.66874	0.0:0.0:0.5902:0.4098	.	.	.	.	X	179;179;179;179;179;179;77;179	.	ENSP00000324302:R179X	R	-	1	2	STXBP6	24358157	1.000000	0.71417	0.997000	0.53966	0.174000	0.22865	2.682000	0.46934	0.236000	0.21180	-2.160000	0.00327	CGA	STXBP6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409166.1		-	ENST00000323944.5	Nonsense_Mutation	SNP	14 : 25288317 - 25288317 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	954	189
HAO2	51179	broad.mit.edu	37	1	119929252	119929252	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:119929252C>T	ENST00000361035.4	+	6	891	c.608C>T	c.(607-609)gCa>gTa	p.A203V	HAO2_ENST00000325945.3_Missense_Mutation_p.A190V			Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	190	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TAGGGAAATGCAATACCTTAT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	102	102			NA	NA	1		NA											NA				119929252		2203	4300	6503	SO:0001583	missense			AF231917	CCDS901.1	1p13.3-p13.1	2008-07-18			ENSG00000116882	ENSG00000116882	51179	51179	1.1.3.15		4810	protein-coding gene	gene with protein product	(S)-2-hydroxy-acid oxidase, glycolate oxidase, long-chain L-2-hydroxy acid oxidase, growth-inhibiting protein 16	605176			NA	10777549	Standard	NM_001005783	XM_005270913	NA	Approved	HAOX2, GIG16	uc001ehr.1	Q9NYQ3	OTTHUMG00000012410	ENST00000361035.4:c.608C>T	1.37:g.119929252C>T	ENSP00000354314:p.Ala203Val	NA	Q2TU86|Q9UJS6	37		.	.	.	.	.	.	.	.	.	.	C	12.75	2.031455	0.35797	.	.	ENSG00000116882	ENST00000457318;ENST00000361035;ENST00000325945	T;T;T	0.29397	1.57;1.57;1.57	5.13	3.15	0.36227	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.938027	0.08845	N	0.885294	T	0.06962	0.0177	N	0.21448	0.665	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.40175	-0.9577	9	.	.	.	2.527	6.806	0.23779	0.0:0.6969:0.1417:0.1614	.	190	Q9NYQ3	HAOX2_HUMAN	V	165;203;190	ENSP00000393955:A165V;ENSP00000354314:A203V;ENSP00000316339:A190V	.	A	+	2	0	HAO2	119730775	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	0.505000	0.22642	0.664000	0.31047	0.655000	0.94253	GCA	HAO2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000034532.2		+	ENST00000361035.4	Missense_Mutation	SNP	1 : 119929252 - 119929252 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	372	82
EEA1	8411	broad.mit.edu	37	12	93196191	93196191	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:93196191T>C	ENST00000322349.8	-	19	2923	c.2659A>G	c.(2659-2661)Ata>Gta	p.I887V		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	887					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						AAGTCTAATATAGCGGCTTTT	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	55	54			NA	NA	12		NA											NA				93196191		2200	4295	6495	SO:0001583	missense			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189	8411	8411		Zinc fingers, FYVE domain containing	3185	protein-coding gene	gene with protein product		605070	early endosome antigen 1, 162kD		NA	7768953, 9697774	Standard	NM_003566	NM_003566	NA	Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.2659A>G	12.37:g.93196191T>C	ENSP00000317955:p.Ile887Val	NA	Q14221	37	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	T	1.136	-0.650910	0.03506	.	.	ENSG00000102189	ENST00000322349	T	0.62788	0.0	5.4	-0.258	0.12975	.	0.442204	0.19156	N	0.121338	T	0.27454	0.0674	N	0.02916	-0.46	0.21020	N	0.999803	B	0.02656	0.0	B	0.04013	0.001	T	0.08994	-1.0695	10	0.29301	T	0.29	.	1.7563	0.02983	0.1541:0.3229:0.1128:0.4102	.	887	Q15075	EEA1_HUMAN	V	887	ENSP00000317955:I887V	ENSP00000317955:I887V	I	-	1	0	EEA1	91720322	0.051000	0.20477	0.993000	0.49108	0.970000	0.65996	-0.276000	0.08514	0.040000	0.15660	0.402000	0.26972	ATA	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407304.1		-	ENST00000322349.8	Missense_Mutation	SNP	12 : 93196191 - 93196191 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	177	32
CLEC16A	23274	broad.mit.edu	37	16	11114148	11114148	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11114148G>A	ENST00000409790.1	+	12	1632	c.1402G>A	c.(1402-1404)Gcc>Acc	p.A468T	CLEC16A_ENST00000409552.3_Missense_Mutation_p.A450T	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	468								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GAAAAGCGCCGCCGCCACCTG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)											21	26	24			NA	NA	16		NA											NA				11114148		2004	4173	6177	SO:0001583	missense			AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532	23274	23274		C-type lectin domain containing	29013	protein-coding gene	gene with protein product		611303	KIAA0350	KIAA0350	NA	9205841, 17632545	Standard	NM_015226	NM_015226	NA	Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.1402G>A	16.37:g.11114148G>A	ENSP00000387122:p.Ala468Thr	NA	O15058|Q6ZTB2	37	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655504	0.67586	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.47177	0.85	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.62624	0.2443	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.993;0.994	T	0.56486	-0.7971	10	0.14656	T	0.56	-18.8815	14.6545	0.68823	0.0:0.0:1.0:0.0	.	468;450	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	T	468;468;450	ENSP00000387122:A468T	ENSP00000386495:A450T	A	+	1	0	CLEC16A	11021649	1.000000	0.71417	0.303000	0.25071	0.018000	0.09664	7.199000	0.77831	2.521000	0.84997	0.555000	0.69702	GCC	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328540.2		+	ENST00000409790.1	Missense_Mutation	SNP	16 : 11114148 - 11114148 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	147	29
PTCH1	5727	broad.mit.edu	37	9	98212127	98212127	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:98212127G>T	ENST00000430669.2	-	21	3932	c.3347C>A	c.(3346-3348)cCt>cAt	p.P1116H	PTCH1_ENST00000375274.2_Missense_Mutation_p.P1181H|PTCH1_ENST00000331920.6_Missense_Mutation_p.P1182H|PTCH1_ENST00000418258.1_Missense_Mutation_p.P1031H|PTCH1_ENST00000437951.1_Missense_Mutation_p.P1116H|PTCH1_ENST00000429896.2_Missense_Mutation_p.P1031H|PTCH1_ENST00000421141.1_Missense_Mutation_p.P1031H			Q13635	PTC1_HUMAN	patched 1	1182					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ACTGACCTCAGGATATGGTCC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	85	89			NA	NA	9		NA											NA				98212127		2203	4300	6503	SO:0001583	missense			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920	5727	5727			9585	protein-coding gene	gene with protein product		601309	patched (Drosophila) homolog, patched homolog (Drosophila), patched homolog 1 (Drosophila)	NBCCS, PTCH	NA	8658145	Standard	NM_000264	NM_001083603	NA	Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000430669.2:c.3347C>A	9.37:g.98212127G>T	ENSP00000410287:p.Pro1116His	NA	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	37	CCDS47996.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257690	0.80246	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.90900	-2.75;-2.74;-2.73;-2.73;-2.74;-2.73;-2.75	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.94411	0.8202	L	0.60455	1.87	0.80722	D	1	P;D;B	0.89917	0.767;1.0;0.409	P;D;B	0.74348	0.561;0.983;0.082	D	0.94148	0.7403	10	0.54805	T	0.06	-15.707	19.4381	0.94806	0.0:0.0:1.0:0.0	.	1116;1181;1182	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	H	1182;1116;1031;1031;1116;1031;1181	ENSP00000332353:P1182H;ENSP00000389744:P1116H;ENSP00000399981:P1031H;ENSP00000396135:P1031H;ENSP00000410287:P1116H;ENSP00000414823:P1031H;ENSP00000364423:P1181H	ENSP00000332353:P1182H	P	-	2	0	PTCH1	97251948	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.606000	0.88127	0.561000	0.74099	CCT	PTCH1-003	KNOWN	not_organism_supported|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053231.2		-	ENST00000430669.2	Missense_Mutation	SNP	9 : 98212127 - 98212127 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	185	39
ADAMTS12	81792	broad.mit.edu	37	5	33649745	33649745	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33649745C>T	ENST00000504830.1	-	8	1583	c.1248G>A	c.(1246-1248)ccG>ccA	p.P416P	ADAMTS12_ENST00000352040.3_Silent_p.P416P|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	416	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ACATGATGTACGGATGTCTGC	0.557		NA								HNSCC(64;0.19)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													177	150	159			NA	NA	5		NA											NA				33649745		2203	4300	6503	SO:0001819	synonymous_variant			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388	81792	81792		ADAM metallopeptidases with thrombospondin type 1 motif	14605	protein-coding gene	gene with protein product		606184	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12		NA	11279086	Standard	NM_030955	NM_030955	NA	Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1248G>A	5.37:g.33649745C>T		NA	A2RRN9|A5D6V6|Q6UWL3	37	CCDS34140.1																																																																																			ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367164.2		-	ENST00000504830.1	Silent	SNP	5 : 33649745 - 33649745 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	393	52
MEGF8	1954	broad.mit.edu	37	19	42848687	42848687	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42848687C>A	ENST00000334370.4	+	11	2518	c.1883C>A	c.(1882-1884)cCt>cAt	p.P628H	MEGF8_ENST00000251268.6_Missense_Mutation_p.P628H	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	652						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCACGGGGACCTGGCACCCTG	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	21	20			NA	NA	19		NA											NA				42848687		2201	4296	6497	SO:0001583	missense			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429	1954	1954			3233	protein-coding gene	gene with protein product	HBV pre s2 binding protein 1	604267	EGF-like-domain, multiple 4, chromosome 19 open reading frame 49	EGFL4, C19orf49	NA	9693030	Standard	NM_001410	NM_001410	NA	Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000334370.4:c.1883C>A	19.37:g.42848687C>A	ENSP00000334219:p.Pro628His	NA	A8KAY0|O75097	37	CCDS12604.2	.	.	.	.	.	.	.	.	.	.	C	9.373	1.070957	0.20147	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.20738	2.06;2.05	4.64	4.64	0.57946	.	0.155915	0.40908	D	0.000999	T	0.17746	0.0426	N	0.08118	0	0.80722	D	1	D;D	0.69078	0.991;0.997	P;P	0.57548	0.687;0.823	T	0.05632	-1.0873	10	0.27785	T	0.31	-8.9146	8.7811	0.34792	0.0:0.8953:0.0:0.1047	.	628;628	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	H	628	ENSP00000334219:P628H;ENSP00000251268:P628H	ENSP00000251268:P628H	P	+	2	0	MEGF8	47540527	0.999000	0.42202	0.415000	0.26534	0.245000	0.25701	5.236000	0.65354	2.139000	0.66308	0.306000	0.20318	CCT	MEGF8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317695.1		+	ENST00000334370.4	Missense_Mutation	SNP	19 : 42848687 - 42848687 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	211	51
HIST1H3G	8355	broad.mit.edu	37	6	26271485	26271485	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26271485C>T	ENST00000305910.3	-	1	127	c.128G>A	c.(127-129)cGt>cAt	p.R43H		NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	43					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						GGTGCCGGGACGGTAGCGATG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	54	52			NA	NA	6		NA											NA				26271485		2203	4300	6503	SO:0001583	missense			Z80785	CCDS4602.1	6p22.1	2011-07-22	2006-10-11	2003-03-14	ENSG00000256018		8355	8355		Histones / Replication-dependent	4772	protein-coding gene	gene with protein product		602815	H3 histone family, member H, histone 1, H3g	H3FH	NA	9119399, 12408966	Standard	NM_003534	NM_003534	NA	Approved	H3/h	uc003nhi.3	P68431	OTTHUMG00000014436	ENST00000305910.3:c.128G>A	6.37:g.26271485C>T	ENSP00000439660:p.Arg43His	NA	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	37	CCDS4602.1	.	.	.	.	.	.	.	.	.	.	.	10.77	1.442606	0.25987	.	.	ENSG00000256018	ENST00000305910	T	0.50813	0.73	4.56	3.7	0.42460	.	.	.	.	.	T	0.37376	0.1001	.	.	.	0.27360	N	0.955999	.	.	.	.	.	.	T	0.26430	-1.0103	6	0.66056	D	0.02	.	11.9332	0.52857	0.0:0.915:0.0:0.085	.	.	.	.	H	43	ENSP00000439660:R43H	ENSP00000439660:R43H	R	-	2	0	HIST1H3G	26379464	1.000000	0.71417	0.982000	0.44146	0.086000	0.17979	7.557000	0.82243	1.064000	0.40671	0.563000	0.77884	CGT	HIST1H3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040099.2		-	ENST00000305910.3	Missense_Mutation	SNP	6 : 26271485 - 26271485 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	559	24
BRWD3	254065	broad.mit.edu	37	X	79932615	79932615	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79932615A>C	ENST00000373275.4	-	41	5118	c.4902T>G	c.(4900-4902)gaT>gaG	p.D1634E		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1634										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CATCTACGTAATCTTGATCTG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													235	216	222			NA	NA	X		NA											NA				79932615		2203	4300	6503	SO:0001583	missense				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288	254065	254065		WD repeat domain containing	17342	protein-coding gene	gene with protein product		300553			NA	15543602, 16094372	Standard	NM_153252	NM_153252	NA	Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4902T>G	X.37:g.79932615A>C	ENSP00000362372:p.Asp1634Glu	NA	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	37	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	A	13.82	2.351176	0.41700	.	.	ENSG00000165288	ENST00000373275	T	0.74209	-0.82	4.43	3.27	0.37495	.	0.000000	0.85682	D	0.000000	T	0.56455	0.1986	N	0.08118	0	0.30011	N	0.815203	D	0.61697	0.99	P	0.48488	0.579	T	0.55256	-0.8169	9	.	.	.	-12.3016	7.5138	0.27590	0.8194:0.0:0.1806:0.0	.	1634	Q6RI45	BRWD3_HUMAN	E	1634	ENSP00000362372:D1634E	.	D	-	3	2	BRWD3	79819271	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	4.931000	0.63469	0.575000	0.29434	-0.448000	0.05591	GAT	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057344.1		-	ENST00000373275.4	Missense_Mutation	SNP	X : 79932615 - 79932615 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	861	250
FAM220A	84792	broad.mit.edu	37	7	6370157	6370157	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6370157C>T	ENST00000313324.4	-	2	1096	c.629G>A	c.(628-630)cGc>cAc	p.R210H		NM_001037163.1	NP_001032240.1	Q7Z4H9	SIPAR_HUMAN	family with sequence similarity 220, member A	210						nucleus					NA						AAGGAAAATGCGTTTTGTCTC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	131	128			NA	NA	7		NA											NA				6370157		2203	4300	6503	SO:0001583	missense			BC006110	CCDS34599.1	7p22.1	2012-03-19	2012-03-19	2012-03-19	ENSG00000178397	ENSG00000178397	84792	84792			22422	protein-coding gene	gene with protein product	STAT3-interacting protein as a repressor		chromosome 7 open reading frame 70	C7orf70	NA		Standard	NM_001037163	NM_001037163	NA	Approved	SIPAR, MGC12966	uc003spu.3	Q7Z4H9	OTTHUMG00000122091	ENST00000313324.4:c.629G>A	7.37:g.6370157C>T	ENSP00000317289:p.Arg210His	NA	Q75ML2|Q8NA52|Q9BRR7	37	CCDS34599.1	.	.	.	.	.	.	.	.	.	.	C	8.096	0.775509	0.16051	.	.	ENSG00000178397	ENST00000313324	T	0.06371	3.31	5.44	-2.56	0.06268	.	1.369130	0.04941	U	0.458621	T	0.03608	0.0103	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43605	-0.9381	10	0.17369	T	0.5	-0.0292	0.7341	0.00962	0.2418:0.241:0.1199:0.3973	.	210	Q7Z4H9	SIPAR_HUMAN	H	210	ENSP00000317289:R210H	ENSP00000317289:R210H	R	-	2	0	C7orf70	6336682	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.340000	0.07821	-0.605000	0.05753	-1.091000	0.02175	CGC	FAM220A-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000242853.2		-	ENST00000313324.4	Missense_Mutation	SNP	7 : 6370157 - 6370157 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	955	45
ZSCAN21	7589	broad.mit.edu	37	7	99654990	99654990	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99654990G>A	ENST00000292450.4	+	2	525	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.E121K|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.E121K	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	121	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CACTCTCCTCGAAGATCTGGA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	31	31			NA	NA	7		NA											NA				99654990		2203	4299	6502	SO:0001583	missense			AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529	7589	7589		-, Zinc fingers, C2H2-type	13104	protein-coding gene	gene with protein product		601261	zinc finger protein 38 (KOX 25), zinc finger protein 38	ZNF38	NA	2288909, 2014798	Standard	NM_145914	NM_145914	NA	Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.361G>A	7.37:g.99654990G>A	ENSP00000292450:p.Glu121Lys	NA	A4D2A6|D6W5T9|Q9H0B5	37	CCDS5681.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419351	0.83559	.	.	ENSG00000166529	ENST00000543588;ENST00000292450;ENST00000456748;ENST00000438937;ENST00000379635	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	4.77	4.77	0.60923	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.34314	N	0.004062	T	0.45935	0.1367	H	0.95745	3.715	0.39713	D	0.971369	P;D	0.89917	0.883;1.0	P;D	0.85130	0.574;0.997	T	0.63363	-0.6654	10	0.87932	D	0	.	15.6623	0.77197	0.0:0.0:1.0:0.0	.	121;121	Q9Y5A6;G3V1M0	ZSC21_HUMAN;.	K	121;121;121;121;96	ENSP00000441212:E121K;ENSP00000292450:E121K;ENSP00000390960:E121K;ENSP00000404207:E121K	ENSP00000292450:E121K	E	+	1	0	ZSCAN21	99492926	1.000000	0.71417	0.985000	0.45067	0.961000	0.63080	3.377000	0.52425	2.634000	0.89283	0.655000	0.94253	GAA	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336166.1		+	ENST00000292450.4	Missense_Mutation	SNP	7 : 99654990 - 99654990 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	69
NRIP1	8204	broad.mit.edu	37	21	16339699	16339699	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:16339699C>T	ENST00000400202.1	-	3	1527	c.815G>A	c.(814-816)aGc>aAc	p.S272N	NRIP1_ENST00000318948.4_Missense_Mutation_p.S272N|NRIP1_ENST00000400199.1_Missense_Mutation_p.S272N			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	272	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		ATGGGCTTCGCTTGACAGAAG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	142	147			NA	NA	21		NA											NA				16339699		2203	4300	6503	SO:0001583	missense			X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530	8204	8204			8001	protein-coding gene	gene with protein product	receptor interacting protein 140, nuclear factor RIP140	602490			NA	7641693, 9521594	Standard	NM_003489	NM_003489	NA	Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.815G>A	21.37:g.16339699C>T	ENSP00000383063:p.Ser272Asn	NA	Q8IWE8	37	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398344	0.83120	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.22134	1.97;1.97;1.97	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.48132	0.1483	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.34527	-0.9825	10	0.87932	D	0	-15.7639	20.4753	0.99175	0.0:1.0:0.0:0.0	.	272	P48552	NRIP1_HUMAN	N	272	ENSP00000383060:S272N;ENSP00000383063:S272N;ENSP00000327213:S272N	ENSP00000327213:S272N	S	-	2	0	NRIP1	15261570	1.000000	0.71417	0.975000	0.42487	0.967000	0.64934	7.487000	0.81328	2.844000	0.97970	0.650000	0.86243	AGC	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157926.1		-	ENST00000400202.1	Missense_Mutation	SNP	21 : 16339699 - 16339699 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	501	79
MED9	55090	broad.mit.edu	37	17	17380439	17380439	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17380439G>A	ENST00000268711.3	+	1	140	c.84G>A	c.(82-84)aaG>aaA	p.K28K	MED9_ENST00000580462.1_Silent_p.K28K|MED9_ENST00000585041.1_3'UTR	NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	28	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						ctgacaccaagccgctgccgc	0.721		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	17		NA											NA				17380439		2191	4278	6469	SO:0001819	synonymous_variant			BC000647	CCDS11184.1	17p11.2	2007-07-30	2007-07-30		ENSG00000141026	ENSG00000141026	55090	55090			25487	protein-coding gene	gene with protein product		609878	mediator of RNA polymerase II transcription, subunit 9 homolog (S. cerevisiae)		NA	11997338	Standard	NM_018019	NM_018019	NA	Approved	FLJ10193, MED25	uc002grh.1	Q9NWA0	OTTHUMG00000059293	ENST00000268711.3:c.84G>A	17.37:g.17380439G>A		NA		37	CCDS11184.1																																																																																			MED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131669.2		+	ENST00000268711.3	Silent	SNP	17 : 17380439 - 17380439 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	156	37
HOXB3	3213	broad.mit.edu	37	17	46628044	46628044	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46628044G>A	ENST00000489475.1	-	5	1430	c.729C>T	c.(727-729)ggC>ggT	p.G243G	HOXB3_ENST00000490677.1_Silent_p.G182G|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000311626.4_Silent_p.G316G|HOXB3_ENST00000476342.1_Silent_p.G316G|HOXB3_ENST00000460160.1_Silent_p.G184G|HOXB3_ENST00000472863.1_Silent_p.G243G|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000470495.1_Silent_p.G316G|HOXB3_ENST00000485909.2_Silent_p.G184G|HOXB3_ENST00000498678.1_Silent_p.G316G			P14651	HXB3_HUMAN	homeobox B3	316					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						TCTGCGGGGCGCCGCAGCCTT	0.697		NA									OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	47	44			NA	NA	17		NA											NA				46628044		2203	4300	6503	SO:0001819	synonymous_variant				CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093	3213	3213		Homeoboxes / ANTP class : HOXL subclass	5114	protein-coding gene	gene with protein product		142966	homeo box B3	HOX2, HOX2G	NA	1973146, 1358459	Standard		XM_006721854	NA	Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000489475.1:c.729C>T	17.37:g.46628044G>A		940	A8K567|D3DTV3|O95615|P17484	37																																																																																				HOXB3-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000358265.1		-	ENST00000489475.1	Silent	SNP	17 : 46628044 - 46628044 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	646	122
SHROOM3	57619	broad.mit.edu	37	4	77661164	77661164	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77661164C>T	ENST00000296043.6	+	5	2791	c.1838C>T	c.(1837-1839)gCg>gTg	p.A613V		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	613					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCCTGGCAAGCGGGTGAAGAC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	149	148			NA	NA	4		NA											NA				77661164		2203	4300	6503	SO:0001583	missense			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771	57619	57619			30422	protein-coding gene	gene with protein product		604570			NA	10589677, 16615870	Standard	NM_020859	NM_020859	NA	Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.1838C>T	4.37:g.77661164C>T	ENSP00000296043:p.Ala613Val	NA	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	37	CCDS3579.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.011|0.011	-1.733713|-1.733713	0.00687|0.00687	.|.	.|.	ENSG00000138771|ENSG00000138771	ENST00000296043|ENST00000380735	T|.	0.17854|.	2.25|.	5.64|5.64	-3.6|-3.6	0.04570|0.04570	.|.	1.549080|.	0.03546|.	N|.	0.224670|.	T|T	0.12774|0.12774	0.0310|0.0310	N|N	0.01352|0.01352	-0.895|-0.895	0.09310|0.09310	N|N	1|1	B;B;B|.	0.12013|.	0.005;0.005;0.002|.	B;B;B|.	0.06405|.	0.002;0.001;0.001|.	T|T	0.31806|0.31806	-0.9930|-0.9930	10|6	0.06625|0.72032	T|D	0.88|0.01	-4.4057|-4.4057	8.8457|8.8457	0.35168|0.35168	0.0:0.4991:0.1238:0.3771|0.0:0.4991:0.1238:0.3771	.|.	437;613;391|.	B4E244;Q8TF72;B3KY47|.	.;SHRM3_HUMAN;.|.	V|W	613|153	ENSP00000296043:A613V|.	ENSP00000296043:A613V|ENSP00000370111:R153W	A|R	+|+	2|1	0|2	SHROOM3|SHROOM3	77880188|77880188	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.204000|0.204000	0.24138|0.24138	0.001000|0.001000	0.13038|0.13038	-0.485000|-0.485000	0.06754|0.06754	0.462000|0.462000	0.41574|0.41574	GCG|CGG	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252408.2		+	ENST00000296043.6	Missense_Mutation	SNP	4 : 77661164 - 77661164 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	863	136
RDH11	51109	broad.mit.edu	37	14	68157882	68157882	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68157882C>A	ENST00000381346.4	-	4	539	c.429G>T	c.(427-429)gaG>gaT	p.E143D	RDH11_ENST00000428130.2_Missense_Mutation_p.E143D|RDH11_ENST00000553384.1_Missense_Mutation_p.E130D	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	143					retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	CTATGTGCATCTCAAAGCCAT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													268	252	257			NA	NA	14		NA											NA				68157882		2203	4300	6503	SO:0001583	missense			AF151840	CCDS32104.1, CCDS58326.1	14q24.1	2013-10-15	2006-05-09		ENSG00000072042	ENSG00000072042	51109	51109	1.1.1.-	Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2	17964	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 7C, member 1, androgen-regulated short-chain dehydrogenase/reductase 1	607849	retinol dehydrogenase 11 (all-trans and 9-cis)		NA	12226107, 8018917, 19027726	Standard		NM_016026	NA	Approved	MDT1, SDR7C1, ARSDR1	uc001xjv.4	Q8TC12	OTTHUMG00000171196	ENST00000381346.4:c.429G>T	14.37:g.68157882C>A	ENSP00000370750:p.Glu143Asp	NA	A6NDK3|A8K062|B2RB26|Q6IAH5|Q9NRW0|Q9Y391	37	CCDS32104.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244340	0.79912	.	.	ENSG00000072042	ENST00000381346;ENST00000553384;ENST00000428130;ENST00000554035;ENST00000557726	D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33	6.07	2.0	0.26442	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.90421	0.7001	L	0.60455	1.87	0.52099	D	0.999944	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.88357	0.2985	10	0.72032	D	0.01	.	9.6028	0.39615	0.0:0.6434:0.0:0.3566	.	143;130;143	B4DDW0;Q8TC12-2;Q8TC12	.;.;RDH11_HUMAN	D	143;130;143;42;91	ENSP00000370750:E143D;ENSP00000452079:E130D;ENSP00000416395:E143D;ENSP00000450802:E42D;ENSP00000450435:E91D	ENSP00000370750:E143D	E	-	3	2	RDH11	67227635	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	2.728000	0.47319	0.081000	0.16988	-0.482000	0.04802	GAG	RDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412257.3		-	ENST00000381346.4	Missense_Mutation	SNP	14 : 68157882 - 68157882 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1177	36
MAP3K13	9175	broad.mit.edu	37	3	185183578	185183578	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185183578C>T	ENST00000265026.3	+	9	1766	c.1432C>T	c.(1432-1434)Cgg>Tgg	p.R478W	MAP3K13_ENST00000535426.1_Missense_Mutation_p.R334W|MAP3K13_ENST00000443863.1_Missense_Mutation_p.R334W|MAP3K13_ENST00000446828.1_Missense_Mutation_p.R271W|MAP3K13_ENST00000424227.1_Missense_Mutation_p.R478W	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	478					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	p.R478W(2)|p.R478R(1)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GAAGCTTGAGCGGGCGAATAA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				3	Substitution - Missense(2)|Substitution - coding silent(1)	large_intestine(3)											139	143	142			NA	NA	3		NA											NA				185183578		2203	4300	6503	SO:0001583	missense			BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803	9175	9175		Mitogen-activated protein kinase cascade / Kinase kinase kinases	6852	protein-coding gene	gene with protein product	leucine zipper-bearing kinase	604915			NA	9353328	Standard	NM_004721	NM_004721	NA	Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1432C>T	3.37:g.185183578C>T	ENSP00000265026:p.Arg478Trp	NA	B2R6U2|B4DLE3|B4DMV2|B4DZJ4|D3DNU1|Q05BY6|Q15450|Q2NKN3	37	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.873817	0.72180	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026;ENST00000420577	T;T;T;T;T;T	0.80566	-1.39;-1.35;-1.25;-1.25;-1.35;-1.05	4.97	2.95	0.34219	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000001	D	0.83243	0.5212	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.996;0.997	D	0.84993	0.0895	10	0.72032	D	0.01	.	13.4974	0.61434	0.3171:0.6829:0.0:0.0	.	334;271;478	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	W	271;478;334;334;478;223	ENSP00000411483:R271W;ENSP00000399910:R478W;ENSP00000409325:R334W;ENSP00000439257:R334W;ENSP00000265026:R478W;ENSP00000415712:R223W	ENSP00000265026:R478W	R	+	1	2	MAP3K13	186666272	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.491000	0.22419	2.309000	0.77851	0.655000	0.94253	CGG	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345268.1		+	ENST00000265026.3	Missense_Mutation	SNP	3 : 185183578 - 185183578 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	795	158
ITGA7	3679	broad.mit.edu	37	12	56092537	56092537	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56092537C>T	ENST00000257879.6	-	6	1170	c.955G>A	c.(955-957)Ggc>Agc	p.G319S	ITGA7_ENST00000394230.2_Missense_Mutation_p.G323S|ITGA7_ENST00000553804.1_Missense_Mutation_p.G323S|ITGA7_ENST00000452168.2_Missense_Mutation_p.G226S|ITGA7_ENST00000555728.1_Missense_Mutation_p.G363S|ITGA7_ENST00000257880.7_Missense_Mutation_p.G363S|ITGA7_ENST00000347027.6_Missense_Mutation_p.G319S|ITGA7_ENST00000394229.2_Missense_Mutation_p.G319S	NM_002206.2	NP_002197.2	Q13683	ITA7_HUMAN	integrin, alpha 7	363					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TAGCCAAAGCCGGAGGTCAGG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	55	59			NA	NA	12		NA											NA				56092537		2203	4299	6502	SO:0001583	missense				CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424	3679	3679		Integrins	6143	protein-coding gene	gene with protein product		600536			NA	7607681	Standard	NM_002206	NM_002206	NA	Approved		uc001shh.3	Q13683		ENST00000257879.6:c.955G>A	12.37:g.56092537C>T	ENSP00000257879:p.Gly319Ser	NA	B4E3U0|C9JMD3|C9JMZ6|O43197|Q9NY89|Q9UET0|Q9UEV2	37	CCDS8888.1	.	.	.	.	.	.	.	.	.	.	C	6.925	0.540358	0.13250	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54	4.46	4.46	0.54185	.	0.338675	0.28688	N	0.014478	T	0.31167	0.0788	N	0.01235	-0.94	0.42502	D	0.992937	B;B;B;P	0.36990	0.07;0.019;0.033;0.577	B;B;B;B	0.24006	0.011;0.008;0.011;0.05	T	0.51204	-0.8735	10	0.07030	T	0.85	.	10.1055	0.42530	0.2:0.8:0.0:0.0	.	226;363;323;382	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	S	323;319;319;226;363;323;319;363;363	ENSP00000452120:G323S;ENSP00000257879:G319S;ENSP00000343009:G319S;ENSP00000393844:G226S;ENSP00000257880:G363S;ENSP00000377777:G323S;ENSP00000377776:G319S;ENSP00000452387:G363S	ENSP00000257879:G319S	G	-	1	0	ITGA7	54378804	0.710000	0.27896	0.995000	0.50966	0.785000	0.44390	1.497000	0.35649	2.489000	0.83994	0.491000	0.48974	GGC	ITGA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410049.1		-	ENST00000257879.6	Missense_Mutation	SNP	12 : 56092537 - 56092537 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	385	59
LONP1	9361	broad.mit.edu	37	19	5694911	5694911	+	Splice_Site	SNP	C	C	T	rs138134205		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5694911C>T	ENST00000360614.3	-	14	2172	c.2015G>A	c.(2014-2016)cGc>cAc	p.R672H	LONP1_ENST00000590729.1_Splice_Site_p.R542H|LONP1_ENST00000585374.1_Splice_Site_p.R558H|LONP1_ENST00000540670.2_Splice_Site_p.R476H|LONP1_ENST00000593119.1_Splice_Site_p.R608H	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	672					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CACCAGGTAGCGCTGCAAGGG	0.637		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	34	35	35		2015	2.7	0.6	19	dbSNP_134	35	1,8597	1.2+/-3.3	0,1,4298	yes	missense-near-splice	LONP1	NM_004793.2	29	0,1,6501	TT,TC,CC	NA	0.0116,0.0,0.0077	possibly-damaging	672/960	5694911	1,13003	2203	4299	6502	SO:0001630	splice_region_variant			U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365	9361	9361		ATPases / AAA-type, Serine peptidases / Serine peptidases	9479	protein-coding gene	gene with protein product		605490	protease, serine, 15	PRSS15	NA	8248235, 8119403	Standard	NM_004793	NM_004793	NA	Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.2014-1G>A	19.37:g.5694911C>T		NA	D6W635|P36777|Q9UQ95	37	CCDS12148.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187963	0.57909	0.0	1.16E-4	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	T;T	0.26067	2.06;1.76	3.72	2.65	0.31530	.	0.134457	0.42682	D	0.000661	T	0.24661	0.0598	L	0.60904	1.88	0.80722	D	1	P;P;P	0.45634	0.863;0.863;0.863	B;B;B	0.43194	0.411;0.411;0.411	T	0.01956	-1.1240	10	0.49607	T	0.09	-7.9883	6.32	0.21213	0.0:0.7612:0.0:0.2388	.	672;608;672	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	H	672;636;476	ENSP00000353826:R672H;ENSP00000441523:R476H	ENSP00000351177:R636H	R	-	2	0	LONP1	5645911	0.995000	0.38212	0.637000	0.29366	0.762000	0.43233	3.212000	0.51145	0.548000	0.28955	0.462000	0.41574	CGC	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451662.1	Missense_Mutation	-	ENST00000360614.3	Splice_Site	SNP	19 : 5694911 - 5694911 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	48
HIC1	3090	broad.mit.edu	37	17	1960163	1960163	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1960163A>C	ENST00000399849.3	+	2	339	c.179A>C	c.(178-180)gAc>gCc	p.D60A	HIC1_ENST00000322941.3_Missense_Mutation_p.D79A	NM_006497.3	NP_006488.2	Q14526	HIC1_HUMAN	hypermethylated in cancer 1	NA	BTB.				multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		GTGGTGCATGACAACCTGCTC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	46	45			NA	NA	17		NA											NA				1960163		2157	4264	6421	SO:0001583	missense				CCDS42229.1, CCDS42230.1	17p13.3	2013-01-09				ENSG00000177374	3090	3090		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	4909	protein-coding gene	gene with protein product		603825			NA		Standard	NM_006497	NM_006497	NA	Approved	ZBTB29, ZNF901	uc010cjy.3	Q14526		ENST00000399849.3:c.179A>C	17.37:g.1960163A>C	ENSP00000382742:p.Asp60Ala	NA	D3DTI4	37	CCDS42230.1	.	.	.	.	.	.	.	.	.	.	A	17.78	3.473536	0.63737	.	.	ENSG00000177374	ENST00000399849;ENST00000322941	T;T	0.23348	1.91;1.91	4.06	4.06	0.47325	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	.	.	.	.	T	0.47728	0.1461	M	0.67625	2.065	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.51036	-0.8756	9	0.72032	D	0.01	.	12.8345	0.57765	1.0:0.0:0.0:0.0	.	79	Q14526	HIC1_HUMAN	A	60;79	ENSP00000382742:D60A;ENSP00000314080:D79A	ENSP00000314080:D79A	D	+	2	0	HIC1	1906913	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.895000	0.69814	1.706000	0.51276	0.459000	0.35465	GAC	HIC1-006	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438877.2		+	ENST00000399849.3	Missense_Mutation	SNP	17 : 1960163 - 1960163 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	452	35
ANKRD24	170961	broad.mit.edu	37	19	4202024	4202024	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4202024T>C	ENST00000600132.1	+	6	621	c.345T>C	c.(343-345)ggT>ggC	p.G115G	ANKRD24_ENST00000262970.5_Splice_Site_p.G205G|ANKRD24_ENST00000318934.4_Splice_Site_p.G115G	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	115										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CTTCCCCAGGTTACAATGCCC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	86	88			NA	NA	19		NA											NA				4202024		1914	4117	6031	SO:0001630	splice_region_variant			AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847	170961	170961		Ankyrin repeat domain containing	29424	protein-coding gene	gene with protein product					NA	11853319	Standard	XM_114000	NM_133475	NA	Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.344-1T>C	19.37:g.4202024T>C		NA	O75268|O95781	37	CCDS45925.1																																																																																			ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458188.1	Silent	+	ENST00000600132.1	Splice_Site	SNP	19 : 4202024 - 4202024 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	473	51
FUK	197258	broad.mit.edu	37	16	70501802	70501802	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70501802A>G	ENST00000571514.1	+	2	36				FUK_ENST00000378912.2_Missense_Mutation_p.D231G|FUK_ENST00000288078.6_Missense_Mutation_p.D199G			Q8N0W3	FUK_HUMAN	fucokinase	NA						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CTTGTTTTGGACATTTACTAC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	86	85			NA	NA	16		NA											NA				70501802		2057	4212	6269	SO:0001627	intron_variant				CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	197258	197258	2.7.1.52		29500	protein-coding gene	gene with protein product	L-fucose kinase	608675			NA	12056818	Standard	NM_145059	XM_006721161	NA	Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000571514.1:c.-697-950A>G	16.37:g.70501802A>G		NA	Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	37		.	.	.	.	.	.	.	.	.	.	A	19.28	3.797143	0.70567	.	.	ENSG00000157353	ENST00000288078;ENST00000378912	T;T	0.32988	1.43;1.43	5.17	5.17	0.71159	L-fucokinase (1);	0.123047	0.52532	D	0.000076	T	0.53658	0.1810	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76575	0.988;0.988	T	0.53940	-0.8367	10	0.44086	T	0.13	-23.5079	14.3028	0.66364	1.0:0.0:0.0:0.0	.	231;199	Q8N0W3-2;Q8N0W3	.;FUK_HUMAN	G	199;231	ENSP00000288078:D199G;ENSP00000368192:D231G	ENSP00000288078:D199G	D	+	2	0	FUK	69059303	1.000000	0.71417	1.000000	0.80357	0.461000	0.32589	6.373000	0.73128	2.102000	0.63906	0.459000	0.35465	GAC	FUK-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000437736.2		+	ENST00000571514.1	Intron	SNP	16 : 70501802 - 70501802 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	278	76
TMEM201	199953	broad.mit.edu	37	1	9661306	9661306	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9661306G>A	ENST00000340305.5	+	5	759	c.750G>A	c.(748-750)ctG>ctA	p.L250L	TMEM201_ENST00000340381.6_Silent_p.L250L|TMEM201_ENST00000377376.4_Silent_p.L250L	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN	transmembrane protein 201	250						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		CCCTGGCCCTGCCACCTGGTG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	46	45			NA	NA	1		NA											NA				9661306		2203	4298	6501	SO:0001819	synonymous_variant				CCDS30579.1, CCDS44055.1, CCDS44055.2	1p36.22	2009-11-06			ENSG00000188807	ENSG00000188807	199953	199953			33719	protein-coding gene	gene with protein product					NA		Standard	NM_001010866	NM_001130924	NA	Approved	RP13-15M17.2, NET5	uc021ofy.1	Q5SNT2	OTTHUMG00000057457	ENST00000340305.5:c.750G>A	1.37:g.9661306G>A		NA	B9EH90|Q5SNT3	37	CCDS30579.1	.	.	.	.	.	.	.	.	.	.	G	9.965	1.223772	0.22457	.	.	ENSG00000188807	ENST00000416541	.	.	.	4.98	4.06	0.47325	.	.	.	.	.	T	0.60117	0.2244	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56932	-0.7897	4	.	.	.	-15.5829	9.92	0.41459	0.0961:0.0:0.9039:0.0	.	.	.	.	T	160	.	.	A	+	1	0	TMEM201	9583893	0.988000	0.35896	0.999000	0.59377	0.943000	0.58893	1.617000	0.36943	1.069000	0.40788	0.563000	0.77884	GCC	TMEM201-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000127673.2		+	ENST00000340305.5	Silent	SNP	1 : 9661306 - 9661306 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	415	23
DCHS2	54798	broad.mit.edu	37	4	155278477	155278477	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155278477C>A	ENST00000357232.4	-	6	694		c.e6-1		DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	NA					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ctatagagtcctaattaggga	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	65	63			NA	NA	4		NA											NA				155278477		2203	4300	6503	SO:0001630	splice_region_variant			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410	54798	54798		Cadherins / Cadherin-related	23111	protein-coding gene	gene with protein product	cadherin-related family member 7	612486	cadherin-like 27, dachsous 2 (Drosophila)	CDH27, PCDH23	NA	15003449	Standard	NM_001142552	NM_017639	NA	Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.695-1G>T	4.37:g.155278477C>A		NA	Q4W5P9|Q6ZS61|Q9NXU8	37	CCDS3785.1																																																																																			DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365281.2	Intron	-	ENST00000357232.4	Splice_Site	SNP	4 : 155278477 - 155278477 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	401	75
GSAP	54103	broad.mit.edu	37	7	76950696	76950696	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:76950696C>T	ENST00000257626.7	-	25	2026	c.1948G>A	c.(1948-1950)Gaa>Aaa	p.E650K	GSAP_ENST00000441833.2_Intron|GSAP_ENST00000440473.1_5'UTR	NM_017439.3	NP_059135.2			gamma-secretase activating protein	NA											NA						CAATTGGTTTCTACGATGTGG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	117	117			NA	NA	7		NA											NA				76950696		1975	4166	6141	SO:0001583	missense				CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088	54103	54103			28042	protein-coding gene	gene with protein product		613552	pigeon homolog (Drosophila)	PION	NA	20811458	Standard	NM_017439	NM_017439	NA	Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.1948G>A	7.37:g.76950696C>T	ENSP00000257626:p.Glu650Lys	NA		37	CCDS34672.2	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096086	0.36952	.	.	ENSG00000186088	ENST00000257626;ENST00000415112	T;T	0.30714	1.52;1.52	5.56	5.56	0.83823	.	0.106321	0.64402	D	0.000005	T	0.27629	0.0679	L	0.40543	1.245	0.80722	D	1	B	0.20052	0.041	B	0.12156	0.007	T	0.02713	-1.1120	10	0.25751	T	0.34	.	16.8033	0.85619	0.0:1.0:0.0:0.0	.	650	A4D1B5	GSAP_HUMAN	K	650;103	ENSP00000257626:E650K;ENSP00000396230:E103K	ENSP00000257626:E650K	E	-	1	0	PION	76788632	1.000000	0.71417	0.844000	0.33320	0.068000	0.16541	3.095000	0.50235	2.777000	0.95525	0.591000	0.81541	GAA	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318672.2		-	ENST00000257626.7	Missense_Mutation	SNP	7 : 76950696 - 76950696 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	299	63
AFTPH	54812	broad.mit.edu	37	2	64779021	64779021	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64779021T>G	ENST00000238856.4	+	2	727	c.413T>G	c.(412-414)gTg>gGg	p.V138G	AFTPH_ENST00000238855.7_Missense_Mutation_p.V138G|AFTPH_ENST00000409933.1_Missense_Mutation_p.V138G|AFTPH_ENST00000422803.1_Missense_Mutation_p.V138G	NM_001002243.2|NM_017657.4	NP_001002243.1|NP_060127.3	Q6ULP2	AFTIN_HUMAN	aftiphilin	138					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						AATAAAGTAGTGGAGCAGAGA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	42	41			NA	NA	2		NA											NA				64779021		2203	4297	6500	SO:0001583	missense			AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844	54812	54812			25951	protein-coding gene	gene with protein product					NA	14665628, 15758025, 15811338	Standard	NM_017657	NM_017657	NA	Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000238856.4:c.413T>G	2.37:g.64779021T>G	ENSP00000238856:p.Val138Gly	NA	D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	37	CCDS1878.1	.	.	.	.	.	.	.	.	.	.	T	0.403	-0.917286	0.02415	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.35	1.38	0.22167	.	1.620940	0.03161	N	0.169284	T	0.20659	0.0497	N	0.16478	0.41	0.09310	N	0.999995	B;B;P;P	0.42203	0.001;0.001;0.773;0.773	B;B;B;B	0.41894	0.001;0.002;0.369;0.369	T	0.11372	-1.0590	10	0.38643	T	0.18	6.6229	2.3047	0.04171	0.2423:0.0768:0.1397:0.5412	.	138;138;138;138	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	G	138	ENSP00000238856:V138G;ENSP00000397726:V138G;ENSP00000238855:V138G;ENSP00000387071:V138G	ENSP00000238855:V138G	V	+	2	0	AFTPH	64632525	0.906000	0.30813	0.039000	0.18376	0.810000	0.45777	0.543000	0.23237	0.422000	0.26005	0.482000	0.46254	GTG	AFTPH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327302.1		+	ENST00000238856.4	Missense_Mutation	SNP	2 : 64779021 - 64779021 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	386	61
XIRP2	129446	broad.mit.edu	37	2	168104995	168104995	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168104995C>T	ENST00000409195.1	+	9	7182	c.7093C>T	c.(7093-7095)Ccg>Tcg	p.P2365S	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2143S|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P2365S|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2190					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATGTTTCTGCCGCCTCCTCC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	101	99			NA	NA	2		NA											NA				168104995		1981	4153	6134	SO:0001583	missense			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092	129446	129446			14303	protein-coding gene	gene with protein product	myomaxin	609778	cardiomyopathy associated 3	CMYA3	NA	17046827, 12203715, 15454575	Standard	NM_152381	NM_001079810	NA	Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7093C>T	2.37:g.168104995C>T	ENSP00000386840:p.Pro2365Ser	NA	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.690793	0.29962	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.04275	3.67;3.67;3.66	6.02	5.14	0.70334	.	0.385337	0.27554	N	0.018848	T	0.12220	0.0297	M	0.67953	2.075	0.43099	D	0.994784	D;D;D	0.58620	0.972;0.983;0.983	P;P;P	0.56865	0.647;0.808;0.808	T	0.25398	-1.0133	10	0.15952	T	0.53	-2.9885	9.7499	0.40470	0.1427:0.7846:0.0:0.0726	.	2190;2190;2143	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	S	2365;2365;2143	ENSP00000386840:P2365S;ENSP00000295237:P2365S;ENSP00000387255:P2143S	ENSP00000295237:P2365S	P	+	1	0	XIRP2	167813241	0.478000	0.25917	0.052000	0.19188	0.331000	0.28603	3.341000	0.52151	1.543000	0.49345	0.655000	0.94253	CCG	XIRP2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333547.1		+	ENST00000409195.1	Missense_Mutation	SNP	2 : 168104995 - 168104995 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	542	198
TSKS	60385	broad.mit.edu	37	19	50243181	50243181	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50243181A>G	ENST00000246801.3	-	11	1713	c.1631T>C	c.(1630-1632)aTg>aCg	p.M544T	TSKS_ENST00000358830.3_Missense_Mutation_p.M344T	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	544							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CAGAGTGGCCATCTTCTCCCT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	85	88			NA	NA	19		NA											NA				50243181		2203	4300	6503	SO:0001583	missense			BC058862	CCDS12780.1	19q13.3	2014-06-13					60385	60385			30719	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 161	608253			NA	11444856, 18495105	Standard	NM_021733	NM_021733	NA	Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1631T>C	19.37:g.50243181A>G	ENSP00000246801:p.Met544Thr	NA	Q8WXJ0	37	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	A	2.835	-0.241732	0.05906	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.27890	1.64;1.64	5.44	2.23	0.28157	.	0.857574	0.09841	N	0.748920	T	0.14270	0.0345	N	0.08118	0	0.23204	N	0.998125	B	0.11235	0.004	B	0.11329	0.006	T	0.32079	-0.9920	10	0.28530	T	0.3	-9.4709	4.2281	0.10590	0.6446:0.1749:0.1805:0.0	.	544	Q9UJT2	TSKS_HUMAN	T	544;344	ENSP00000246801:M544T;ENSP00000351691:M344T	ENSP00000246801:M544T	M	-	2	0	TSKS	54934993	1.000000	0.71417	0.999000	0.59377	0.156000	0.22039	0.878000	0.28126	0.070000	0.16634	0.496000	0.49642	ATG	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465795.1		-	ENST00000246801.3	Missense_Mutation	SNP	19 : 50243181 - 50243181 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	514	75
CYB5R1	51706	broad.mit.edu	37	1	202932821	202932821	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202932821G>A	ENST00000367249.4	-	7	668	c.594C>T	c.(592-594)atC>atT	p.I198I	CYB5R1_ENST00000497655.1_5'UTR	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	198					sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)			GGACTTTCAGGATGGCCCGGA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	107	115			NA	NA	1		NA											NA				202932821		2203	4300	6503	SO:0001819	synonymous_variant			AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	51706	51706	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	NAD(P)H:quinone oxidoreductase type 3, polypeptide A2	NQO3A2	NA	12975309, 10611283	Standard	NM_016243	NM_016243	NA	Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.594C>T	1.37:g.202932821G>A		NA	A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	37	CCDS1431.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.255216	0.22965	.	.	ENSG00000159348	ENST00000446185	.	.	.	5.93	5.01	0.66863	.	.	.	.	.	T	0.64349	0.2590	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63143	-0.6703	4	.	.	.	-5.9597	12.7787	0.57464	0.0791:0.0:0.9209:0.0	.	.	.	.	F	130	.	.	S	-	2	0	CYB5R1	201199444	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.985000	0.49362	1.499000	0.48617	0.655000	0.94253	TCC	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000099155.1		-	ENST00000367249.4	Silent	SNP	1 : 202932821 - 202932821 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	90	5
NOLC1	9221	broad.mit.edu	37	10	103921395	103921395	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103921395T>C	ENST00000605788.1	+	11	2059	c.1824T>C	c.(1822-1824)ccT>ccC	p.P608P	NOLC1_ENST00000477977.1_3'UTR|NOLC1_ENST00000488254.2_Silent_p.P609P|NOLC1_ENST00000405356.1_Silent_p.P618P|NOLC1_ENST00000603742.1_Silent_p.P327P	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	608					mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		TTCAGACCCCTAACACATTTC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	36	37			NA	NA	10		NA											NA				103921395		2203	4300	6503	SO:0001819	synonymous_variant			Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197	9221	9221			15608	protein-coding gene	gene with protein product		602394			NA	7657714, 10567578	Standard	NM_004741	XM_005270273	NA	Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.1824T>C	10.37:g.103921395T>C		NA	Q15030|Q5VV70|Q9BUV3	37	CCDS7530.1																																																																																			NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050012.2		+	ENST00000605788.1	Silent	SNP	10 : 103921395 - 103921395 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	198	39
FAM65C	140876	broad.mit.edu	37	20	49214249	49214249	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:49214249T>G	ENST00000327979.2	-	14	2059		c.e14-2		FAM65C_ENST00000535356.1_Splice_Site|FAM65C_ENST00000045083.2_Splice_Site			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	NA										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCTGCAGGGCTGTGGACGAAG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	32	36			NA	NA	20		NA											NA				49214249		2203	4300	6503	SO:0001630	splice_region_variant			AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062	140876	140876			16168	protein-coding gene	gene with protein product			chromosome 20 open reading frame 175, chromosome 20 open reading frame 176	C20orf175, C20orf176	NA		Standard		XM_005260294	NA	Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.1648-2A>C	20.37:g.49214249T>G		NA	Q5QPB6|Q9NQQ2	37	CCDS13431.2	.	.	.	.	.	.	.	.	.	.	T	12.78	2.039431	0.35989	.	.	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	.	.	.	4.47	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5877	0.50929	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM65C	48647656	1.000000	0.71417	0.998000	0.56505	0.030000	0.12068	4.106000	0.57804	1.789000	0.52484	0.459000	0.35465	.	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257962.1	Intron	-	ENST00000327979.2	Splice_Site	SNP	20 : 49214249 - 49214249 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	117	22
NEK11	79858	broad.mit.edu	37	3	130851590	130851590	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130851590A>G	ENST00000510769.1	+	5	710	c.457A>G	c.(457-459)Agg>Ggg	p.R153G	NEK11_ENST00000507910.1_Splice_Site_p.R153G|NEK11_ENST00000511262.1_Splice_Site_p.R153G|NEK11_ENST00000412440.2_Splice_Site_p.R5G|NEK11_ENST00000508196.1_Splice_Site_p.R153G|NEK11_ENST00000383366.4_Splice_Site_p.R153G|NEK11_ENST00000510688.1_Splice_Site_p.R153G|NEK11_ENST00000356918.4_Splice_Site_p.R153G|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000429253.2_Splice_Site_p.R153G			Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	153	Protein kinase.				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						CTTTTGTAGGAGGATACTTCA	0.274		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	40	40			NA	NA	3		NA											NA				130851590		2188	4259	6447	SO:0001630	splice_region_variant			AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670	79858	79858			18593	protein-coding gene	gene with protein product		609779	NIMA (never in mitosis gene a)- related kinase 11		NA		Standard	NM_024800	NM_024800	NA	Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.456-1A>G	3.37:g.130851590A>G		NA	A6NHD7|Q5JPC0|Q8NG65|Q8TBY1|Q9H5F4	37		.	.	.	.	.	.	.	.	.	.	A	16.34	3.094369	0.56075	.	.	ENSG00000114670	ENST00000510769;ENST00000429253;ENST00000356918;ENST00000510688;ENST00000511262;ENST00000383366;ENST00000412440;ENST00000507910;ENST00000508196	T;T;T;T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4;3.18;1.4;1.4	5.45	5.45	0.79879	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.236288	0.28964	N	0.013571	T	0.19087	0.0458	N	0.00885	-1.115	0.52099	D	0.999945	B;P;B;B;B;B;B	0.47762	0.242;0.9;0.304;0.284;0.096;0.117;0.02	B;P;B;B;B;B;B	0.47645	0.093;0.553;0.114;0.175;0.042;0.071;0.028	T	0.46005	-0.9222	10	0.62326	D	0.03	.	13.7638	0.62981	1.0:0.0:0.0:0.0	.	153;153;5;153;153;153;153	Q8NG66-3;E9PHI8;B4DDN2;B4DM56;Q8NG66-4;Q8NG66;Q8NG66-2	.;.;.;.;.;NEK11_HUMAN;.	G	153;153;153;153;153;153;5;153;153	ENSP00000421549:R153G;ENSP00000397180:R153G;ENSP00000349389:R153G;ENSP00000423458:R153G;ENSP00000425114:R153G;ENSP00000372857:R153G;ENSP00000411888:R5G;ENSP00000426662:R153G;ENSP00000421851:R153G	ENSP00000349389:R153G	R	+	1	2	NEK11	132334280	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.431000	0.34925	2.202000	0.70862	0.528000	0.53228	AGG	NEK11-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000356757.1	Missense_Mutation	+	ENST00000510769.1	Splice_Site	SNP	3 : 130851590 - 130851590 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	49	7
NUP210L	91181	broad.mit.edu	37	1	154026854	154026854	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154026854T>G	ENST00000368559.3	-	25	3404	c.3333A>C	c.(3331-3333)caA>caC	p.Q1111H	NUP210L_ENST00000368553.1_Missense_Mutation_p.Q44H|NUP210L_ENST00000271854.3_Missense_Mutation_p.Q1111H	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1111						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GAACGATGGATTGGGGCTGGG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	91	92			NA	NA	1		NA											NA				154026854		1913	4116	6029	SO:0001583	missense			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552	91181	91181			29915	protein-coding gene	gene with protein product					NA		Standard	NM_207308	NM_207308	NA	Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.3333A>C	1.37:g.154026854T>G	ENSP00000357547:p.Gln1111His	NA	Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6	37	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	T	18.43	3.622680	0.66787	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.43688	0.94;0.94;0.94	5.03	-4.47	0.03525	Bacterial Ig-like, group 2 (2);Invasin/intimin cell-adhesion (1);	0.000000	0.56097	D	0.000024	T	0.45776	0.1359	M	0.75447	2.3	0.31872	N	0.619558	D;D	0.76494	0.998;0.999	D;D	0.87578	0.993;0.998	T	0.56111	-0.8033	10	0.49607	T	0.09	-15.7413	13.811	0.63264	0.0:0.5615:0.0:0.4385	.	1111;1111	E7EP56;Q5VU65	.;P210L_HUMAN	H	1111;44;1111	ENSP00000357547:Q1111H;ENSP00000357541:Q44H;ENSP00000271854:Q1111H	ENSP00000271854:Q1111H	Q	-	3	2	NUP210L	152293478	0.006000	0.16342	0.859000	0.33776	0.958000	0.62258	-1.428000	0.02439	-0.754000	0.04715	-0.371000	0.07208	CAA	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087270.3		-	ENST00000368559.3	Missense_Mutation	SNP	1 : 154026854 - 154026854 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	498	122
NDEL1	81565	broad.mit.edu	37	17	8354153	8354153	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8354153G>A	ENST00000380025.4	+	6	740	c.582G>A	c.(580-582)tcG>tcA	p.S194S	NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000334527.7_Silent_p.S194S|NDEL1_ENST00000402554.3_Silent_p.S194S|NDEL1_ENST00000299734.7_Silent_p.S194S			Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	194	Interaction with CENPF.|Interaction with NEFL (By similarity).|Interaction with YWHAE (By similarity).				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle				large_intestine(6)|lung(4)|skin(3)	13						CTAGAAAGTCGGCTCCTAGCT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	65	69			NA	NA	17		NA											NA				8354153		2203	4300	6503	SO:0001819	synonymous_variant			AF182078	CCDS11143.1, CCDS32564.1	17p13.1	2013-08-06	2013-08-06	2003-04-16	ENSG00000166579	ENSG00000166579	81565	81565			17620	protein-coding gene	gene with protein product		607538	nudE nuclear distribution gene E homolog (A. nidulans)-like 1, nudE nuclear distribution E homolog (A. nidulans)-like 1		NA	11163260, 11163259	Standard	NM_030808	NM_001025579	NA	Approved	NUDEL, MITAP1, NDE1L1, NDE2	uc002glj.4	Q9GZM8	OTTHUMG00000108193	ENST00000380025.4:c.582G>A	17.37:g.8354153G>A		NA	B3KP93|D3DTS0|Q86T80|Q8TAR7|Q9UH50	37																																																																																				NDEL1-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000442478.1		+	ENST00000380025.4	Silent	SNP	17 : 8354153 - 8354153 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	244	55
REG3G	130120	broad.mit.edu	37	2	79253879	79253879	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:79253879C>A	ENST00000409471.1	+	3	275	c.117C>A	c.(115-117)agC>agA	p.S39R	REG3G_ENST00000393897.2_Missense_Mutation_p.S39R|REG3G_ENST00000272324.5_Missense_Mutation_p.S39R	NM_001270040.1	NP_001256969.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	39					acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CACGGATCAGCTGTCCCAAAG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	82	83			NA	NA	2		NA											NA				79253879		2203	4300	6503	SO:0001583	missense			AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954	130120	130120			29595	protein-coding gene	gene with protein product		609933			NA	12975309	Standard	NM_198448	NM_001008387	NA	Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000409471.1:c.117C>A	2.37:g.79253879C>A	ENSP00000387105:p.Ser39Arg	NA	A8K980|D6W5J6|Q3SYE4|Q6FH18	37	CCDS58714.1	.	.	.	.	.	.	.	.	.	.	C	9.688	1.151243	0.21371	.	.	ENSG00000143954	ENST00000393897;ENST00000272324;ENST00000409471	T;T;T	0.17528	4.2;4.2;2.27	5.05	0.0749	0.14397	C-type lectin-like (1);	0.501906	0.20367	N	0.093738	T	0.12603	0.0306	L	0.48642	1.525	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.12156	0.007;0.004	T	0.18967	-1.0320	10	0.45353	T	0.12	.	4.9812	0.14166	0.0:0.4397:0.3079:0.2524	.	39;39	Q3SYE6;Q6UW15	.;REG3G_HUMAN	R	39	ENSP00000377475:S39R;ENSP00000272324:S39R;ENSP00000387105:S39R	ENSP00000272324:S39R	S	+	3	2	REG3G	79107387	0.000000	0.05858	0.006000	0.13384	0.060000	0.15804	-0.550000	0.06034	-0.090000	0.12462	0.655000	0.94253	AGC	REG3G-003	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328248.1		+	ENST00000409471.1	Missense_Mutation	SNP	2 : 79253879 - 79253879 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	182	58
ACAP2	23527	broad.mit.edu	37	3	195013054	195013054	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195013054G>A	ENST00000326793.6	-	19	2123	c.1893C>T	c.(1891-1893)gaC>gaT	p.D631D		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	631					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						CCCAGTTCACGTCTGCACCAT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	163	163			NA	NA	3		NA											NA				195013054		2203	4300	6503	SO:0001819	synonymous_variant				CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331	23527	23527		ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing	16469	protein-coding gene	gene with protein product		607766	centaurin, beta 2	CENTB2	NA	11050434, 11062263	Standard	NM_012287	NM_012287	NA	Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1893C>T	3.37:g.195013054G>A		NA	A8K2V4|Q8N5Z8|Q9UQR3	37	CCDS33924.1	.	.	.	.	.	.	.	.	.	.	G	5.192	0.220917	0.09863	.	.	ENSG00000114331	ENST00000450200	.	.	.	5.43	-1.23	0.09465	.	.	.	.	.	T	0.50017	0.1591	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39461	-0.9613	4	.	.	.	.	5.4496	0.16556	0.5395:0.0:0.2902:0.1702	.	.	.	.	C	225	.	.	R	-	1	0	ACAP2	196494343	0.926000	0.31397	0.997000	0.53966	0.731000	0.41821	0.075000	0.14686	-0.150000	0.11195	-2.006000	0.00442	CGT	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342126.2		-	ENST00000326793.6	Silent	SNP	3 : 195013054 - 195013054 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	670	111
AGPAT3	56894	broad.mit.edu	37	21	45379592	45379592	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45379592G>T	ENST00000398063.2	+	2	522	c.30G>T	c.(28-30)caG>caT	p.Q10H	AGPAT3_ENST00000546158.1_Missense_Mutation_p.Q10H|AGPAT3_ENST00000291572.8_Missense_Mutation_p.Q10H|AGPAT3_ENST00000398058.1_Missense_Mutation_p.Q10H|AGPAT3_ENST00000327505.2_Missense_Mutation_p.Q10H|AGPAT3_ENST00000398061.1_Missense_Mutation_p.Q10H	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	10					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		TGAAGACCCAGTTCGTGCTGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(60;623 1650 5574 52796)							NA				0													129	99	109			NA	NA	21		NA											NA				45379592		2203	4300	6503	SO:0001583	missense			AF156774	CCDS13703.1	21q22.3	2013-02-05			ENSG00000160216	ENSG00000160216	56894	56894	2.3.1.51	1-acylglycerol-3-phosphate O-acyltransferases	326	protein-coding gene	gene with protein product		614794			NA		Standard	NM_020132	XM_005261159	NA	Approved	LPAAT-gamma	uc002zdw.3	Q9NRZ7	OTTHUMG00000086892	ENST00000398063.2:c.30G>T	21.37:g.45379592G>T	ENSP00000381140:p.Gln10His	NA	D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	37	CCDS13703.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.215506	0.39102	.	.	ENSG00000160216	ENST00000291572;ENST00000448287;ENST00000398061;ENST00000327505;ENST00000445582;ENST00000398063;ENST00000438598;ENST00000398058;ENST00000457068;ENST00000448845;ENST00000422850;ENST00000546158	T;T;T;T;T;T;T;T	0.44881	1.49;1.49;1.49;1.49;1.49;0.91;0.91;1.49	4.43	3.54	0.40534	.	2.255560	0.01928	N	0.040995	T	0.46132	0.1377	L	0.57536	1.79	0.40417	D	0.979809	B	0.20671	0.047	B	0.23419	0.046	T	0.21314	-1.0249	10	0.15066	T	0.55	-7.4377	13.7342	0.62807	0.0:0.0:0.8447:0.1553	.	10	Q9NRZ7	PLCC_HUMAN	H	10	ENSP00000291572:Q10H;ENSP00000381138:Q10H;ENSP00000332989:Q10H;ENSP00000381140:Q10H;ENSP00000381135:Q10H;ENSP00000413906:Q10H;ENSP00000414440:Q10H;ENSP00000443510:Q10H	ENSP00000291572:Q10H	Q	+	3	2	AGPAT3	44204020	1.000000	0.71417	0.972000	0.41901	0.513000	0.34164	3.553000	0.53713	0.843000	0.35070	0.398000	0.26397	CAG	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195722.1		+	ENST00000398063.2	Missense_Mutation	SNP	21 : 45379592 - 45379592 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	623	137
TIAM1	7074	broad.mit.edu	37	21	32526607	32526607	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32526607C>A	ENST00000286827.3	-	18	3600	c.3129G>T	c.(3127-3129)aaG>aaT	p.K1043N	TIAM1_ENST00000541036.1_Missense_Mutation_p.K983N	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1043	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CGCAGATCACCTTGCGCAGCT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	82	85			NA	NA	21		NA											NA				32526607		2203	4300	6503	SO:0001583	missense				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299	7074	7074		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	11805	protein-coding gene	gene with protein product		600687			NA	8595894, 15340013	Standard	NM_003253	NM_003253	NA	Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3129G>T	21.37:g.32526607C>A	ENSP00000286827:p.Lys1043Asn	NA	Q17RT7	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955449	0.73902	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.67865	-0.29;-0.29	6.17	3.4	0.38934	Dbl homology (DH) domain (3);	0.000000	0.85682	D	0.000000	T	0.72028	0.3410	L	0.39147	1.195	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.996	T	0.69544	-0.5117	10	0.39692	T	0.17	.	10.7591	0.46253	0.0:0.7469:0.0:0.2531	.	983;983;1043	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	N	1043;884;983	ENSP00000286827:K1043N;ENSP00000441570:K983N	ENSP00000286827:K1043N	K	-	3	2	TIAM1	31448478	1.000000	0.71417	0.999000	0.59377	0.854000	0.48673	0.843000	0.27640	0.948000	0.37687	0.655000	0.94253	AAG	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000192552.1		-	ENST00000286827.3	Missense_Mutation	SNP	21 : 32526607 - 32526607 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	70
CCR7	1236	broad.mit.edu	37	17	38711511	38711511	+	Missense_Mutation	SNP	G	G	A	rs141181444	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38711511G>A	ENST00000246657.2	-	3	682	c.620C>T	c.(619-621)gCg>gTg	p.A207V	CCR7_ENST00000579344.1_Missense_Mutation_p.A201V	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	207					cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				GCATCGCATCGCTTGCTCACT	0.572		NA											G	1	5e-04	NA	NA	2184	NA	0.9999	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.9049	LOWCOV,EXOME	NA	NA	0.0038	SNP								NA				0													73	63	66			NA	NA	17		NA											NA				38711511		2203	4300	6503	SO:0001583	missense				CCDS11369.1	17q12-q21.2	2012-08-08			ENSG00000126353	ENSG00000126353	1236	1236		GPCR / Class A : Chemokine receptors : C-C motif, CD molecules	1608	protein-coding gene	gene with protein product		600242		CMKBR7, EBI1	NA	8383238	Standard		NM_001838	NA	Approved	BLR2, CDw197, CD197	uc002huw.3	P32248	OTTHUMG00000133375	ENST00000246657.2:c.620C>T	17.37:g.38711511G>A	ENSP00000246657:p.Ala207Val	NA		37	CCDS11369.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	1.122	-0.655134	0.03480	.	.	ENSG00000126353	ENST00000246657	T	0.36157	1.27	4.45	2.47	0.30058	GPCR, rhodopsin-like superfamily (1);	2.531820	0.01360	N	0.012206	T	0.13970	0.0338	N	0.01446	-0.86	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37641	-0.9697	10	0.02654	T	1	.	7.2012	0.25881	0.1594:0.0:0.6936:0.147	.	207	P32248	CCR7_HUMAN	V	207	ENSP00000246657:A207V	ENSP00000246657:A207V	A	-	2	0	CCR7	35965037	0.006000	0.16342	0.001000	0.08648	0.204000	0.24138	1.560000	0.36331	0.820000	0.34516	0.561000	0.74099	GCG	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257222.1		-	ENST00000246657.2	Missense_Mutation	SNP	17 : 38711511 - 38711511 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	185	32
SNCAIP	9627	broad.mit.edu	37	5	121786879	121786879	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121786879G>T	ENST00000261367.7	+	12	3906	c.2478G>T	c.(2476-2478)caG>caT	p.Q826H	SNCAIP_ENST00000542191.1_Missense_Mutation_p.Q337H|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379533.2_Missense_Mutation_p.Q826H|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000261368.8_Missense_Mutation_p.Q779H|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.Q719H|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.Q413H|SNCAIP_ENST00000414317.2_Missense_Mutation_p.Q381H|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	779					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GTGACCCTCAGCAGCCCAGCC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	60	59			NA	NA	5		NA											NA				121786879		2203	4300	6503	SO:0001583	missense			AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692	9627	9627		Ankyrin repeat domain containing	11139	protein-coding gene	gene with protein product	synphilin	603779			NA	10319874	Standard		NM_001242935	NA	Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261367.7:c.2478G>T	5.37:g.121786879G>T	ENSP00000261367:p.Gln826His	NA	D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	37		.	.	.	.	.	.	.	.	.	.	G	0.059	-1.228979	0.01518	.	.	ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317	T;T;T;T;T;T;T;T	0.12672	4.47;4.99;2.7;2.66;4.99;4.98;2.66;4.69	5.87	-5.2	0.02823	.	0.665589	0.15287	N	0.270390	T	0.03564	0.0102	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B	0.32507	0.0;0.0;0.001;0.164;0.003;0.164;0.373;0.161	B;B;B;B;B;B;B;B	0.30401	0.0;0.0;0.0;0.115;0.001;0.115;0.09;0.033	T	0.37267	-0.9713	10	0.21014	T	0.42	-0.3089	0.1661	0.00108	0.3158:0.1818:0.2432:0.2593	.	719;407;381;719;413;413;826;779	D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5	.;.;.;.;.;.;.;SNCAP_HUMAN	H	337;719;779;826;719;413;826;381	ENSP00000441681:Q337H;ENSP00000422106:Q719H;ENSP00000261368:Q779H;ENSP00000368848:Q826H;ENSP00000368851:Q719H;ENSP00000368854:Q413H;ENSP00000261367:Q826H;ENSP00000394392:Q381H	ENSP00000261367:Q826H	Q	+	3	2	SNCAIP	121814778	0.038000	0.19896	0.224000	0.23877	0.003000	0.03518	-0.023000	0.12456	-0.369000	0.08028	-1.551000	0.00897	CAG	SNCAIP-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000250889.2		+	ENST00000261367.7	Missense_Mutation	SNP	5 : 121786879 - 121786879 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	274	56
RBM7	10179	broad.mit.edu	37	11	114278379	114278379	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:114278379G>T	ENST00000540163.1	+	5	1293	c.651G>T	c.(649-651)caG>caT	p.Q217H	RBM7_ENST00000545678.1_Missense_Mutation_p.Q97H|RBM7_ENST00000541475.1_3'UTR|RP11-212D19.4_ENST00000544347.1_Intron|RBM7_ENST00000375490.5_Missense_Mutation_p.Q218H|RBM7_ENST00000544582.1_Intron			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	217					meiosis		nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		GCCGGGAACAGCGTTACACTG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	99	104			NA	NA	11		NA											NA				114278379		2201	4296	6497	SO:0001583	missense			AF156098	CCDS8370.1, CCDS66233.1, CCDS73395.1	11q23.1-q23.2	2013-02-12			ENSG00000076053	ENSG00000076053	10179	10179		RNA binding motif (RRM) containing	9904	protein-coding gene	gene with protein product		612413			NA	12477932	Standard	NM_016090	NM_001286045	NA	Approved		uc001pov.3	Q9Y580		ENST00000540163.1:c.651G>T	11.37:g.114278379G>T	ENSP00000439918:p.Gln217His	NA	B2R6K8|Q9NUT4	37	CCDS8370.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052694	0.36181	.	.	ENSG00000076053	ENST00000540163;ENST00000375490;ENST00000545678	T;T	0.29142	1.58;2.6	5.66	2.72	0.32119	.	0.287655	0.34435	N	0.003965	T	0.24890	0.0604	L	0.50333	1.59	0.34958	D	0.75194	B;B	0.13594	0.002;0.008	B;B	0.11329	0.003;0.006	T	0.16247	-1.0409	10	0.72032	D	0.01	-0.2045	5.4956	0.16802	0.0764:0.1402:0.6381:0.1454	.	217;217	Q6IRX3;Q9Y580	.;RBM7_HUMAN	H	217;218;97	ENSP00000439918:Q217H;ENSP00000364639:Q218H	ENSP00000364639:Q218H	Q	+	3	2	RBM7	113783589	0.788000	0.28762	0.731000	0.30826	0.997000	0.91878	0.323000	0.19593	0.298000	0.22638	0.585000	0.79938	CAG	RBM7-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399010.1		+	ENST00000540163.1	Missense_Mutation	SNP	11 : 114278379 - 114278379 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	496	98
HIPK4	147746	broad.mit.edu	37	19	40885655	40885655	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40885655C>T	ENST00000291823.2	-	4	1974	c.1690G>A	c.(1690-1692)Gac>Aac	p.D564N		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	564						cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CTGCTGGGGTCGAAGAGCTCA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	21	20			NA	NA	19		NA											NA				40885655		2201	4297	6498	SO:0001583	missense			BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396	147746	147746			19007	protein-coding gene	gene with protein product		611712			NA		Standard	NM_144685	NM_144685	NA	Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.1690G>A	19.37:g.40885655C>T	ENSP00000291823:p.Asp564Asn	NA	A8K863|Q96M54	37	CCDS12555.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760290	0.49468	.	.	ENSG00000160396	ENST00000291823;ENST00000452139	T	0.68903	-0.36	5.12	3.01	0.34805	.	0.210963	0.33110	N	0.005276	T	0.49983	0.1589	L	0.27053	0.805	0.33448	D	0.583264	B	0.13594	0.008	B	0.08055	0.003	T	0.55988	-0.8053	10	0.87932	D	0	.	7.9341	0.29920	0.0:0.8099:0.0:0.1901	.	564	Q8NE63	HIPK4_HUMAN	N	564;529	ENSP00000291823:D564N	ENSP00000291823:D564N	D	-	1	0	HIPK4	45577495	0.998000	0.40836	0.995000	0.50966	0.994000	0.84299	0.864000	0.27926	0.685000	0.31468	0.462000	0.41574	GAC	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462593.1		-	ENST00000291823.2	Missense_Mutation	SNP	19 : 40885655 - 40885655 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	157	21
TEX15	56154	broad.mit.edu	37	8	30690823	30690823	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30690823T>G	ENST00000256246.2	-	4	8423	c.8349A>C	c.(8347-8349)gaA>gaC	p.E2783D		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2783										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GATGAAAGGATTCTTGGTGCC	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	39	38			NA	NA	8		NA											NA				30690823		2203	4297	6500	SO:0001583	missense			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863	56154	56154			11738	protein-coding gene	gene with protein product	cancer/testis antigen 42	605795	testis expressed sequence 15		NA	11279525	Standard		NM_031271	NA	Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.8349A>C	8.37:g.30690823T>G	ENSP00000256246:p.Glu2783Asp	NA		37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	T	4.139	0.024091	0.08006	.	.	ENSG00000133863	ENST00000256246	T	0.10477	2.87	5.72	3.28	0.37604	.	1.270990	0.05549	N	0.567080	T	0.07458	0.0188	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.36841	-0.9731	10	0.87932	D	0	.	4.9207	0.13869	0.1687:0.0877:0.0:0.7436	.	2783	Q9BXT5	TEX15_HUMAN	D	2783	ENSP00000256246:E2783D	ENSP00000256246:E2783D	E	-	3	2	TEX15	30810365	0.015000	0.18098	0.063000	0.19743	0.108000	0.19459	1.003000	0.29809	0.495000	0.27882	0.528000	0.53228	GAA	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376193.1		-	ENST00000256246.2	Missense_Mutation	SNP	8 : 30690823 - 30690823 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	158	27
AMHR2	269	broad.mit.edu	37	12	53818959	53818959	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53818959C>A	ENST00000379791.3	+	4	435	c.435C>A	c.(433-435)atC>atA	p.I145I	AMHR2_ENST00000550311.1_Silent_p.I145I|AMHR2_ENST00000257863.4_Silent_p.I145I	NM_001164691.1	NP_001158163.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	145					Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GTGAGTCCATCTGGATGGCAC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	127	142			NA	NA	12		NA											NA				53818959		2203	4300	6503	SO:0001819	synonymous_variant			AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14					269	269			465	protein-coding gene	gene with protein product	Muellerian inhibiting substance type II receptor	600956			NA	7493017	Standard	NM_020547	NM_001164690	NA	Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000379791.3:c.435C>A	12.37:g.53818959C>A		NA	A0AVE1|B9EGB7|Q13762	37	CCDS53798.1																																																																																			AMHR2-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407050.1		+	ENST00000379791.3	Silent	SNP	12 : 53818959 - 53818959 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	438	13
CMYA5	202333	broad.mit.edu	37	5	79030920	79030920	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79030920A>C	ENST00000446378.2	+	2	6363	c.6332A>C	c.(6331-6333)aAg>aCg	p.K2111T		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2111						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GTTCAGTCAAAGGTTATTGAT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	56	57			NA	NA	5		NA											NA				79030920		1895	4120	6015	SO:0001583	missense			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309	202333	202333		Tripartite motif containing / Tripartite motif containing, A-kinase anchor proteins, Fibronectin type III domain containing	14305	protein-coding gene	gene with protein product	genethonin-3, tripartite motif-containing 76	612193	chromosome 5 open reading frame 10	C5orf10	NA	14688250	Standard	NM_153610	NM_153610	NA	Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.6332A>C	5.37:g.79030920A>C	ENSP00000394770:p.Lys2111Thr	NA	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	37	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	A	8.762	0.923752	0.18056	.	.	ENSG00000164309	ENST00000446378	T	0.06849	3.25	5.94	4.78	0.61160	.	0.119868	0.37761	N	0.001947	T	0.12220	0.0297	L	0.49126	1.545	0.09310	N	1	D	0.55605	0.972	P	0.48304	0.573	T	0.10382	-1.0632	10	0.72032	D	0.01	.	8.7785	0.34776	0.9151:0.0:0.0849:0.0	.	2111	Q8N3K9	CMYA5_HUMAN	T	2111	ENSP00000394770:K2111T	ENSP00000394770:K2111T	K	+	2	0	CMYA5	79066676	0.242000	0.23868	0.023000	0.16930	0.061000	0.15899	3.126000	0.50477	1.069000	0.40788	0.528000	0.53228	AAG	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369497.1		+	ENST00000446378.2	Missense_Mutation	SNP	5 : 79030920 - 79030920 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	69
THADA	63892	broad.mit.edu	37	2	43805724	43805724	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43805724C>T	ENST00000403856.1	-	10	891	c.744G>A	c.(742-744)caG>caA	p.Q248Q	THADA_ENST00000404790.1_Silent_p.Q248Q|THADA_ENST00000405975.2_Silent_p.Q248Q|THADA_ENST00000415080.2_5'UTR|THADA_ENST00000402360.2_Silent_p.Q248Q|THADA_ENST00000405006.4_Silent_p.Q248Q			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	248							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CAGATGTGCTCTGTACAGTCT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	67	67			NA	NA	2		NA											NA				43805724		1835	4094	5929	SO:0001819	synonymous_variant			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970	63892	63892			19217	protein-coding gene	gene with protein product		611800			NA	12063398, 11214970	Standard	NM_022065	NM_022065	NA	Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000403856.1:c.744G>A	2.37:g.43805724C>T		NA	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	37																																																																																				THADA-005	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000326073.1		-	ENST00000403856.1	Silent	SNP	2 : 43805724 - 43805724 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	254	51
CENPW	387103	broad.mit.edu	37	6	126661536	126661536	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:126661536T>C	ENST00000368328.4	+	1	217	c.117T>C	c.(115-117)ggT>ggC	p.G39G	CENPW_ENST00000368325.1_Silent_p.G39G|CENPW_ENST00000368326.1_Silent_p.G39G			Q5EE01	CENPW_HUMAN	centromere protein W	39						chromosome, centromeric region|nucleus	DNA binding			kidney(2)|large_intestine(1)|lung(3)	6						AGAAAAGTGGTGACTTATTGG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	77	79			NA	NA	6		NA											NA				126661536		2203	4300	6503	SO:0001819	synonymous_variant			BC039556	CCDS34529.1, CCDS69196.1, CCDS75516.1	6q22.32	2013-11-05	2010-04-16	2010-04-16	ENSG00000203760	ENSG00000203760	387103	387103			21488	protein-coding gene	gene with protein product	cancer-upregulated gene 2	611264	chromosome 6 open reading frame 173	C6orf173	NA	17610844, 19070575	Standard		NM_001286524	NA	Approved	CUG2	uc003qao.3	Q5EE01	OTTHUMG00000015518	ENST00000368328.4:c.117T>C	6.37:g.126661536T>C		NA	A6NIR0|A6NJC2	37	CCDS34529.1																																																																																			CENPW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042104.1		+	ENST00000368328.4	Silent	SNP	6 : 126661536 - 126661536 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	396	70
LY75-CD302	100526664	broad.mit.edu	37	2	160741799	160741799	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160741799G>A	ENST00000504764.1	-	6	946	c.919C>T	c.(919-921)Ccc>Tcc	p.P307S	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.P307S|LY75_ENST00000263636.4_Missense_Mutation_p.P307S|LY75_ENST00000553424.1_Missense_Mutation_p.P307S|LY75_ENST00000554112.1_Missense_Mutation_p.P307S	NM_001198759.1	NP_001185688.1	O60449	LY75_HUMAN	LY75-CD302 readthrough	307	C-type lectin 1.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				NA						GGTGCACTGGGCCTGTCTTAA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	99	98			NA	NA	2		NA											NA				160741799		2203	4300	6503	SO:0001583	missense				CCDS56140.1, CCDS56141.1	2q24.2	2011-04-19			ENSG00000248672	ENSG00000248672	100526664	100526664			38828	other	readthrough					NA		Standard		NM_001198759	NA	Approved		uc002ubb.4		OTTHUMG00000161661	ENST00000504764.1:c.919C>T	2.37:g.160741799G>A	ENSP00000423463:p.Pro307Ser	NA	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	37	CCDS56141.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189607	0.38707	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	5.77	3.98	0.46160	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.34959	N	0.003546	T	0.59783	0.2219	L	0.56396	1.775	0.09310	N	1	B;B;B	0.28636	0.218;0.035;0.052	B;B;B	0.23150	0.037;0.044;0.037	T	0.55147	-0.8186	10	0.56958	D	0.05	0.0041	10.5371	0.45011	0.1508:0.0:0.8492:0.0	.	307;307;307	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	S	307	ENSP00000451511:P307S;ENSP00000451446:P307S;ENSP00000263636:P307S;ENSP00000423463:P307S;ENSP00000421035:P307S	ENSP00000423463:P307S	P	-	1	0	LY75;LY75-CD302	160450045	0.020000	0.18652	0.001000	0.08648	0.376000	0.30014	1.304000	0.33482	0.800000	0.34041	0.650000	0.86243	CCC	LY75-CD302-001	PUTATIVE	basic|appris_principal|readthrough_transcript|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365654.1		-	ENST00000504764.1	Missense_Mutation	SNP	2 : 160741799 - 160741799 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	631	146
GBA2	57704	broad.mit.edu	37	9	35741771	35741771	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35741771G>A	ENST00000378094.4	-	4	1197	c.684C>T	c.(682-684)taC>taT	p.Y228Y	GBA2_ENST00000378103.3_Silent_p.Y228Y|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000545786.1_Silent_p.Y234Y			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	228					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGAGGGCATGGTAGAAAGCAA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	121	124			NA	NA	9		NA											NA				35741771		2203	4300	6503	SO:0001819	synonymous_variant			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610	57704	57704			18986	protein-coding gene	gene with protein product	bile acid beta-glucosidase, non-lysosomal glucosylceramidase	609471	spastic paraplegia 46 (autosomal recessive)	SPG46	NA	11489889, 23332916, 23332917	Standard	NM_020944	NM_020944	NA	Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378094.4:c.684C>T	9.37:g.35741771G>A		NA	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	37																																																																																				GBA2-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000055458.1		-	ENST00000378094.4	Silent	SNP	9 : 35741771 - 35741771 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	628	114
CLCA4	22802	broad.mit.edu	37	1	87033243	87033243	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:87033243G>T	ENST00000370563.3	+	7	1133	c.1091G>T	c.(1090-1092)aGc>aTc	p.S364I	CLCA4_ENST00000263723.5_Missense_Mutation_p.S77I	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	364	VWFA.					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CAAATAAAAAGCAGTGATGAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	97	97			NA	NA	1		NA											NA				87033243		1909	4135	6044	SO:0001583	missense			AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602	22802	22802			2018	protein-coding gene	gene with protein product			chloride channel, calcium activated, family member 4, chloride channel regulator 4		NA	10437792	Standard	NM_012128	NM_012128	NA	Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.1091G>T	1.37:g.87033243G>T	ENSP00000359594:p.Ser364Ile	NA	Q6UX81|Q9UNF7	37	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741101	0.49151	.	.	ENSG00000016602	ENST00000370563;ENST00000263723	T;T	0.70045	-0.45;-0.45	5.98	2.75	0.32379	von Willebrand factor, type A (3);	0.414937	0.29508	N	0.011949	T	0.70254	0.3203	M	0.87758	2.905	0.09310	N	1	D	0.53885	0.963	D	0.65573	0.936	T	0.63332	-0.6661	10	0.87932	D	0	-7.571	4.875	0.13651	0.161:0.1236:0.6015:0.1139	.	364	Q14CN2	CLCA4_HUMAN	I	364;77	ENSP00000359594:S364I;ENSP00000263723:S77I	ENSP00000263723:S77I	S	+	2	0	CLCA4	86805831	0.002000	0.14202	0.001000	0.08648	0.013000	0.08279	1.142000	0.31540	0.785000	0.33685	-0.345000	0.07892	AGC	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000028292.1		+	ENST00000370563.3	Missense_Mutation	SNP	1 : 87033243 - 87033243 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	32
OCLM	10896	broad.mit.edu	37	1	186370258	186370258	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186370258T>C	ENST00000574641.1	+	1	555	c.81T>C	c.(79-81)taT>taC	p.Y27Y	C1orf27_ENST00000287859.6_Intron|C1orf27_ENST00000419367.3_Intron|C1orf27_ENST00000432021.3_Intron|C1orf27_ENST00000367470.3_Intron	NM_022375.3	NP_071770.1	Q9Y5M6	TISR_HUMAN	oculomedin	27					visual perception						NA						AAATCCTTTATAAAAGTGGTA	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	108	110			NA	NA	1		NA											NA				186370258		1796	4068	5864	SO:0001819	synonymous_variant			AF142063	CCDS58051.1	1q31.1	2013-09-24			ENSG00000262180	ENSG00000262180	10896	10896			8103	protein-coding gene	gene with protein product		604301			NA	10362512	Standard	NM_022375	NM_022375	NA	Approved		uc001gry.3	Q9Y5M6	OTTHUMG00000177601	ENST00000574641.1:c.81T>C	1.37:g.186370258T>C		NA	Q4G0F9	37	CCDS58051.1																																																																																			OCLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438012.1		+	ENST00000574641.1	Silent	SNP	1 : 186370258 - 186370258 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	405	113
HCN4	10021	broad.mit.edu	37	15	73616569	73616569	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73616569C>T	ENST00000261917.3	-	7	2997	c.2004G>A	c.(2002-2004)cgG>cgA	p.R668R		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	668					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGGCTGTGCGCCGGCCCCGGG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	43	46			NA	NA	15		NA											NA				73616569		2197	4297	6494	SO:0001819	synonymous_variant			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622	10021	10021		Voltage-gated ion channels / Cyclic nucleotide-regulated channels	16882	protein-coding gene	gene with protein product		605206			NA	10228147, 10430953, 16382102	Standard	NM_005477	NM_005477	NA	Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2004G>A	15.37:g.73616569C>T		NA	Q9UMQ7	37	CCDS10248.1																																																																																			HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268900.2		-	ENST00000261917.3	Silent	SNP	15 : 73616569 - 73616569 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	69
IRF6	3664	broad.mit.edu	37	1	209969826	209969826	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209969826C>G	ENST00000367021.3	-	4	418	c.246G>C	c.(244-246)caG>caC	p.Q82H	IRF6_ENST00000542854.1_5'UTR	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	82			Q -> K (in PPS).		cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CACAGCGCAGCTGGGCCTTCC	0.512		NA								HNSCC(57;0.16)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	88	95			NA	NA	1		NA											NA				209969826		2203	4300	6503	SO:0001583	missense			AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595	3664	3664			6121	protein-coding gene	gene with protein product		607199	Van der Woude syndrome	VWS, LPS	NA	12219090	Standard	NM_006147	NM_006147	NA	Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.246G>C	1.37:g.209969826C>G	ENSP00000355988:p.Gln82His	NA	D3DT90	37	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743250	0.69418	.	.	ENSG00000117595	ENST00000367021;ENST00000456314	D;D	0.97752	-4.52;-4.52	5.63	3.53	0.40419	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.052631	0.85682	D	0.000000	D	0.97161	0.9072	L	0.36672	1.1	0.80722	D	1	D	0.63046	0.992	D	0.70487	0.969	D	0.95928	0.8936	9	.	.	.	.	11.3709	0.49699	0.0:0.808:0.0:0.192	.	82	O14896	IRF6_HUMAN	H	82	ENSP00000355988:Q82H;ENSP00000403855:Q82H	.	Q	-	3	2	IRF6	208036449	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.908000	0.48750	1.375000	0.46248	0.655000	0.94253	CAG	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088827.1		-	ENST00000367021.3	Missense_Mutation	SNP	1 : 209969826 - 209969826 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	69
PES1	23481	broad.mit.edu	37	22	30980611	30980611	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30980611G>A	ENST00000405677.1	-	7	988	c.45C>T	c.(43-45)caC>caT	p.H15H	PES1_ENST00000402281.1_Silent_p.H15H|PES1_ENST00000335214.6_Silent_p.H154H|PES1_ENST00000402284.3_Silent_p.H154H|PES1_ENST00000354694.7_Silent_p.H154H	NM_001282328.1	NP_001269257.1	O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	154	Required for 28S ribosomal RNA processing.|Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						TGGTCTGCACGTGGCACTTGC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	54	62			NA	NA	22		NA											NA				30980611		2203	4300	6503	SO:0001819	synonymous_variant			U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029	23481	23481			8848	protein-coding gene	gene with protein product		605819	pescadillo (zebrafish) homolog 1, containing BRCT domain, pescadillo homolog 1, containing BRCT domain (zebrafish)		NA	8985183, 10591208, 17353269	Standard	NM_014303	NM_014303	NA	Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.45C>T	22.37:g.30980611G>A		NA	Q6IC29	37																																																																																				PES1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000321189.2		-	ENST00000405677.1	Silent	SNP	22 : 30980611 - 30980611 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	185	33
RAVER2	55225	broad.mit.edu	37	1	65268680	65268680	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65268680G>T	ENST00000371072.4	+	6	1205	c.1127G>T	c.(1126-1128)aGc>aTc	p.S376I	RAVER2_ENST00000294428.3_Missense_Mutation_p.S376I|RAVER2_ENST00000430964.2_Missense_Mutation_p.S82I	NM_018211.3	NP_060681.2	Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	376						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						ACACCTCACAGCTTGCCACAT	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	124	127			NA	NA	1		NA											NA				65268680		1844	4101	5945	SO:0001583	missense			AB046799	CCDS41345.1	1p31.3	2013-02-12			ENSG00000162437	ENSG00000162437	55225	55225		RNA binding motif (RRM) containing	25577	protein-coding gene	gene with protein product		609953			NA	16051233	Standard	NM_018211	NM_018211	NA	Approved	KIAA1579, FLJ10770	uc001dbs.2	Q9HCJ3	OTTHUMG00000009102	ENST00000371072.4:c.1127G>T	1.37:g.65268680G>T	ENSP00000360112:p.Ser376Ile	NA	Q6P141|Q9NPV7	37	CCDS41345.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.674745	0.29783	.	.	ENSG00000162437	ENST00000371072;ENST00000294428;ENST00000430964	T;T	0.33865	1.39;1.4	5.67	2.69	0.31865	.	0.420646	0.31697	N	0.007205	T	0.21921	0.0528	L	0.50333	1.59	0.25190	N	0.990134	P;P	0.50443	0.893;0.935	P;P	0.51945	0.487;0.685	T	0.06643	-1.0815	10	0.44086	T	0.13	-20.3287	6.1473	0.20293	0.1664:0.286:0.5476:0.0	.	376;376	Q9HCJ3;Q9HCJ3-2	RAVR2_HUMAN;.	I	376;376;82	ENSP00000360112:S376I;ENSP00000294428:S376I	ENSP00000294428:S376I	S	+	2	0	RAVER2	65041268	1.000000	0.71417	0.878000	0.34440	0.009000	0.06853	2.378000	0.44309	0.286000	0.22352	-0.179000	0.13096	AGC	RAVER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025240.2		+	ENST00000371072.4	Missense_Mutation	SNP	1 : 65268680 - 65268680 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	547	40
FBXO7	25793	broad.mit.edu	37	22	32875119	32875119	+	Missense_Mutation	SNP	G	G	T	rs139135860	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32875119G>T	ENST00000266087.7	+	2	601	c.274G>T	c.(274-276)Gat>Tat	p.D92Y	FBXO7_ENST00000465418.1_3'UTR|FBXO7_ENST00000382058.3_Splice_Site|FBXO7_ENST00000397426.1_5'UTR	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	92					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCATCCACAGATTCAGAGCA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	176	176			NA	NA	22		NA											NA				32875119		2203	4300	6503	SO:0001583	missense			AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225	25793	25793		F-boxes /  other, Parkinson disease	13586	protein-coding gene	gene with protein product		605648	F-box only protein 7		NA	10531035, 10531037, 19038853	Standard		NM_001257990	NA	Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.274G>T	22.37:g.32875119G>T	ENSP00000266087:p.Asp92Tyr	NA	B4DNB3|Q5TGC4|Q96HM6|Q9UF21|Q9UKT2	37	CCDS13907.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.22|16.22	3.061175|3.061175	0.55432|0.55432	.|.	.|.	ENSG00000100225|ENSG00000100225	ENST00000452138;ENST00000382058|ENST00000266087	.|T	.|0.56941	.|0.43	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.341251	.|0.31697	.|N	.|0.007220	.|T	.|0.57021	.|0.2025	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	.|P	.|0.52316	.|0.952	.|P	.|0.47645	.|0.553	.|T	.|0.61676	.|-0.7014	.|10	.|0.52906	.|T	.|0.07	.|-13.235	9.1792|9.1792	0.37131|0.37131	0.0:0.1374:0.6345:0.228|0.0:0.1374:0.6345:0.228	.|.	.|92	.|Q9Y3I1	.|FBX7_HUMAN	.|Y	-1|92	.|ENSP00000266087:D92Y	.|ENSP00000266087:D92Y	.|D	+|+	.|1	.|0	FBXO7|FBXO7	31205119|31205119	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.211000|2.211000	0.42825|0.42825	2.553000|2.553000	0.86117|0.86117	0.555000|0.555000	0.69702|0.69702	.|GAT	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000129001.1		+	ENST00000266087.7	Missense_Mutation	SNP	22 : 32875119 - 32875119 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	957	210
STXBP5	134957	broad.mit.edu	37	6	147560343	147560343	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147560343A>G	ENST00000367481.3	+	4	476	c.368A>G	c.(367-369)cAc>cGc	p.H123R	STXBP5_ENST00000546097.1_Missense_Mutation_p.H123R|STXBP5_ENST00000179882.6_5'UTR|STXBP5_ENST00000321680.6_Missense_Mutation_p.H123R|STXBP5_ENST00000367480.3_Missense_Mutation_p.H123R	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	123					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GACACCTTACACTTATGGAAT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	98	99			NA	NA	6		NA											NA				147560343		2203	4300	6503	SO:0001583	missense			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506	NA	134957		WD repeat domain containing	19665	protein-coding gene	gene with protein product		604586			NA	9620695, 14767561	Standard		NM_139244	NA	Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000367481.3:c.368A>G	6.37:g.147560343A>G	ENSP00000356451:p.His123Arg	NA	Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	37	CCDS5211.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.850609	0.91277	.	.	ENSG00000164506	ENST00000367481;ENST00000546097;ENST00000321680;ENST00000367480	T;T;T;T	0.62364	1.74;5.19;1.74;0.03	5.33	5.33	0.75918	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.77082	0.4078	M	0.85373	2.75	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.80764	0.99;0.994	T	0.80845	-0.1200	10	0.56958	D	0.05	.	15.6	0.76616	1.0:0.0:0.0:0.0	.	123;123	Q5T5C0-2;Q5T5C0	.;STXB5_HUMAN	R	123	ENSP00000356451:H123R;ENSP00000441479:H123R;ENSP00000321826:H123R;ENSP00000356450:H123R	ENSP00000321826:H123R	H	+	2	0	STXBP5	147602036	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.724000	0.91462	2.152000	0.67230	0.460000	0.39030	CAC	STXBP5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042605.1		+	ENST00000367481.3	Missense_Mutation	SNP	6 : 147560343 - 147560343 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	401	90
MUC16	94025	broad.mit.edu	37	19	9062517	9062517	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9062517C>A	ENST00000397910.4	-	3	25132	c.24929G>T	c.(24928-24930)aGg>aTg	p.R8310M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8312	Ser-rich.|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						TATGCCCATCCTGTCTGTGGT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	101	103			NA	NA	19		NA											NA				9062517		1958	4156	6114	SO:0001583	missense			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.24929G>T	19.37:g.9062517C>A	ENSP00000381008:p.Arg8310Met	NA	Q6ZQW5|Q96RK2	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	0.250	-1.007424	0.02112	.	.	ENSG00000181143	ENST00000397910	T	0.21031	2.03	2.58	-5.16	0.02857	.	.	.	.	.	T	0.10380	0.0254	N	0.22421	0.69	.	.	.	B	0.23854	0.092	B	0.21917	0.037	T	0.19549	-1.0302	8	0.87932	D	0	.	0.8857	0.01243	0.3313:0.3119:0.159:0.1978	.	8310	B5ME49	.	M	8310	ENSP00000381008:R8310M	ENSP00000381008:R8310M	R	-	2	0	MUC16	8923517	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-2.886000	0.00712	-4.006000	0.00082	-0.815000	0.03128	AGG	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Missense_Mutation	SNP	19 : 9062517 - 9062517 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	549	112
RPE	6120	broad.mit.edu	37	2	210880820	210880820	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:210880820G>A	ENST00000429907.1	+	3	346	c.122G>A	c.(121-123)cGg>cAg	p.R41Q	RPE_ENST00000435437.2_Missense_Mutation_p.R109Q|RPE_ENST00000354506.6_Missense_Mutation_p.R83Q|RPE_ENST00000540255.1_Missense_Mutation_p.R109Q|RPE_ENST00000359429.6_Missense_Mutation_p.R109Q|RPE_ENST00000438204.2_Missense_Mutation_p.R41Q|RPE_ENST00000411934.2_Missense_Mutation_p.R41Q|RPE_ENST00000445268.1_Missense_Mutation_p.R41Q|RPE_ENST00000436630.2_Missense_Mutation_p.R41Q|RPE_ENST00000429921.1_Missense_Mutation_p.R41Q|RPE_ENST00000454822.1_Missense_Mutation_p.R41Q|RPE_ENST00000452025.1_Missense_Mutation_p.R109Q			Q96AT9	RPE_HUMAN	ribulose-5-phosphate-3-epimerase	109					pentose-phosphate shunt	cytosol	metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	9				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		AAAGACATTCGGGAGAATGGG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	82	82			NA	NA	2		NA											NA				210880820		2203	4300	6503	SO:0001583	missense				CCDS2388.1, CCDS42810.1, CCDS63107.1, CCDS63108.1	2q32-q33.3	2012-10-02			ENSG00000197713	ENSG00000197713	6120	6120	5.1.3.1		10293	protein-coding gene	gene with protein product		180480			NA		Standard	NM_006916	NM_199229	NA	Approved		uc002vdn.4	Q96AT9	OTTHUMG00000154690	ENST00000429907.1:c.122G>A	2.37:g.210880820G>A	ENSP00000392279:p.Arg41Gln	NA	A8K4S0|O43767|Q8N215|Q96N34|Q9BSB5	37		.	.	.	.	.	.	.	.	.	.	G	16.55	3.154513	0.57259	.	.	ENSG00000197713	ENST00000359429;ENST00000436630;ENST00000408981;ENST00000454822;ENST00000429921;ENST00000453724;ENST00000540255;ENST00000438265;ENST00000429907;ENST00000441588;ENST00000445268;ENST00000452025;ENST00000438204;ENST00000411934;ENST00000435437;ENST00000354506	.	.	.	5.42	5.42	0.78866	Aldolase-type TIM barrel (1);Ribulose-phosphate binding barrel (1);	0.177006	0.48767	D	0.000162	T	0.72120	0.3421	M	0.74881	2.28	0.58432	D	0.999994	B;D;P;B;B	0.55800	0.377;0.973;0.751;0.322;0.259	B;P;B;B;B	0.50352	0.199;0.638;0.179;0.063;0.122	T	0.72497	-0.4275	9	0.39692	T	0.17	.	19.2105	0.93753	0.0:0.0:1.0:0.0	.	109;96;83;109;109	B4E016;B3KTW7;E7EW52;Q96AT9;C9J9T0	.;.;.;RPE_HUMAN;.	Q	109;41;41;41;41;41;109;41;41;41;41;109;41;41;109;83	.	ENSP00000346501:R83Q	R	+	2	0	RPE	210589065	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.282000	0.72639	2.691000	0.91804	0.655000	0.94253	CGG	RPE-011	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000336592.2		+	ENST00000429907.1	Missense_Mutation	SNP	2 : 210880820 - 210880820 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	336	90
RAB13	5872	broad.mit.edu	37	1	153956050	153956050	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153956050C>T	ENST00000368575.3	-	3	308	c.193G>A	c.(193-195)Gct>Act	p.A65T	RAB13_ENST00000462680.1_5'UTR	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family	65					cell adhesion|protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	cytoplasmic vesicle membrane|tight junction	GTP binding|GTPase activity			breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCTTGGCCAGCCGTGTCCCTA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(138;395 2427 24306 43415)							NA				0													71	65	67			NA	NA	1		NA											NA				153956050		2203	4300	6503	SO:0001583	missense			X75593	CCDS1058.1, CCDS72921.1	1q21.2	2008-02-05			ENSG00000143545	ENSG00000143545	5872	5872		RAB, member RAS oncogene	9762	protein-coding gene	gene with protein product		602672			NA	8294494	Standard	NM_002870	NM_002870	NA	Approved		uc001fdt.2	P51153	OTTHUMG00000036589	ENST00000368575.3:c.193G>A	1.37:g.153956050C>T	ENSP00000357564:p.Ala65Thr	NA	A8K6B5|D3DV67|Q5U0A6|Q6GPG6|Q96GU4	37	CCDS1058.1	.	.	.	.	.	.	.	.	.	.	C	35	5.593984	0.96602	.	.	ENSG00000143545	ENST00000368575	D	0.88741	-2.42	5.54	5.54	0.83059	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.96269	0.8783	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.995;0.997	D	0.96841	0.9618	10	0.87932	D	0	.	17.0271	0.86450	0.0:1.0:0.0:0.0	.	65;65	D3DV69;P51153	.;RAB13_HUMAN	T	65	ENSP00000357564:A65T	ENSP00000357564:A65T	A	-	1	0	RAB13	152222674	1.000000	0.71417	0.979000	0.43373	0.933000	0.57130	7.199000	0.77831	2.890000	0.99128	0.650000	0.86243	GCT	RAB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088992.1		-	ENST00000368575.3	Missense_Mutation	SNP	1 : 153956050 - 153956050 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	204	38
PALLD	23022	broad.mit.edu	37	4	169433122	169433122	+	Missense_Mutation	SNP	C	C	T	rs114877850	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169433122C>T	ENST00000261509.6	+	2	678	c.467C>T	c.(466-468)aCg>aTg	p.T156M	PALLD_ENST00000505667.1_Missense_Mutation_p.T156M|PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000333488.4_Missense_Mutation_p.T33M	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	156					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		AAGCCCAAAACGCCACATCAA	0.522		NA							Pancreatic Cancer, Familial Clustering of				C	2	9e-04	NA	NA	2184	0.0017	1	,	,	NA	2e-04	0.0013	NA	NA	9e-04	0.9756	EXOME	NA	NA	0.0036	SNP	Esophageal Squamous(109;1482 1532 18347 40239 51172)							NA				0								C	MET/THR,MET/THR	0,4406		0,0,2203	49	57	54		467,467	2.8	0	4	dbSNP_132	54	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	PALLD	NM_001166108.1,NM_016081.3	81,81	0,4,6499	TT,TC,CC	NA	0.0465,0.0,0.0308	benign,benign	156/1124,156/1107	169433122	4,13002	2203	4300	6503	SO:0001583	missense	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116	23022	23022		Immunoglobulin superfamily / I-set domain containing	17068	protein-coding gene	gene with protein product		608092			NA	10231032, 10931874	Standard	NM_016081	NM_001166108	NA	Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000261509.6:c.467C>T	4.37:g.169433122C>T	ENSP00000261509:p.Thr156Met	NA	B5MD56|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	37	CCDS34098.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	C	12.62	1.993785	0.35131	0.0	4.65E-4	ENSG00000129116	ENST00000261509;ENST00000505667;ENST00000508898;ENST00000333488	T;T;T;T	0.63255	0.07;0.34;-0.03;-0.0	5.55	2.78	0.32641	.	0.958654	0.08440	U	0.945659	T	0.43875	0.1267	N	0.14661	0.345	0.23346	N	0.997863	B;B	0.15141	0.012;0.012	B;B	0.06405	0.002;0.002	T	0.31971	-0.9924	10	0.45353	T	0.12	.	7.1341	0.25519	0.1355:0.7201:0.0:0.1444	.	156;156	B7ZMM5;B2RTX2	.;.	M	156;156;135;33	ENSP00000261509:T156M;ENSP00000425556:T156M;ENSP00000423063:T135M;ENSP00000328945:T33M	ENSP00000261509:T156M	T	+	2	0	PALLD	169669697	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.000000	0.12993	0.669000	0.31146	-0.198000	0.12761	ACG	PALLD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363761.3		+	ENST00000261509.6	Missense_Mutation	SNP	4 : 169433122 - 169433122 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	415	13
GBF1	8729	broad.mit.edu	37	10	104119161	104119161	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104119161C>T	ENST00000369983.3	+	11	1406	c.1146C>T	c.(1144-1146)ggC>ggT	p.G382G	GBF1_ENST00000476019.1_3'UTR	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	382					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ATCCCCGGGGCGTGCGCTTTA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	108	119			NA	NA	10		NA											NA				104119161		2203	4300	6503	SO:0001819	synonymous_variant			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862	8729	8729			4181	protein-coding gene	gene with protein product		603698	golgi-specific brefeldin A resistance factor 1		NA	9828135	Standard		NM_004193	NA	Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.1146C>T	10.37:g.104119161C>T		NA	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	37	CCDS7533.1																																																																																			GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050051.1		+	ENST00000369983.3	Silent	SNP	10 : 104119161 - 104119161 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	338	18
CCDC110	256309	broad.mit.edu	37	4	186379534	186379534	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186379534A>T	ENST00000510617.1	-	6	2267	c.2207T>A	c.(2206-2208)aTc>aAc	p.I736N	CCDC110_ENST00000393540.3_Missense_Mutation_p.I699N|CCDC110_ENST00000307588.3_Missense_Mutation_p.I736N			Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	736						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		AAGTCTACTGATGCTGTTTTC	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	49	49			NA	NA	4		NA											NA				186379534		2203	4296	6499	SO:0001583	missense			AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491	256309	256309			28504	protein-coding gene	gene with protein product	cancer/testis antigen 52	609488			NA	18160854	Standard	NM_152775	NM_152775	NA	Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000510617.1:c.2207T>A	4.37:g.186379534A>T	ENSP00000427246:p.Ile736Asn	NA	Q86YI9|Q8N7W0	37		.	.	.	.	.	.	.	.	.	.	A	15.19	2.758661	0.49468	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.31769	1.48;1.48;1.48	5.54	5.54	0.83059	.	0.108971	0.40640	N	0.001057	T	0.52645	0.1747	M	0.67953	2.075	0.30694	N	0.750976	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.56263	-0.8008	10	0.36615	T	0.2	-5.7167	14.1879	0.65617	1.0:0.0:0.0:0.0	.	736;699;736	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	N	699;736;736	ENSP00000377172:I699N;ENSP00000306776:I736N;ENSP00000427246:I736N	ENSP00000306776:I736N	I	-	2	0	CCDC110	186616528	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.306000	0.59117	2.220000	0.72140	0.528000	0.53228	ATC	CCDC110-003	NOVEL	not_organism_supported|basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000360521.2		-	ENST00000510617.1	Missense_Mutation	SNP	4 : 186379534 - 186379534 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	100	6
LRCH1	23143	broad.mit.edu	37	13	47262061	47262061	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:47262061C>T	ENST00000389797.3	+	6	1034	c.897C>T	c.(895-897)tcC>tcT	p.S299S	LRCH1_ENST00000389798.3_Silent_p.S299S|LRCH1_ENST00000311191.6_Silent_p.S299S	NM_001164211.1	NP_001157683	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	299										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		CAGCTGACTCCCTTTATCTCC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	92	92			NA	NA	13		NA											NA				47262061		2203	4300	6503	SO:0001819	synonymous_variant			AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141	23143	23143			20309	protein-coding gene	gene with protein product		610368	calponin homology (CH) domain containing 1	CHDC1	NA	10231032	Standard	NM_015116	NM_015116	NA	Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389797.3:c.897C>T	13.37:g.47262061C>T		NA	Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	37	CCDS53865.1																																																																																			LRCH1-004	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354618.1		+	ENST00000389797.3	Silent	SNP	13 : 47262061 - 47262061 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	374	57
ZNF641	121274	broad.mit.edu	37	12	48739206	48739206	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48739206G>A	ENST00000544117.2	-	4	1078	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W	ZNF641_ENST00000448928.3_Intron|ZNF641_ENST00000547026.1_Missense_Mutation_p.R110W|ZNF641_ENST00000301042.3_Missense_Mutation_p.R124W			Q96N77	ZN641_HUMAN	zinc finger protein 641	124	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						TCCAGGCTCCGCCACTCCTCC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	80	80			NA	NA	12		NA											NA				48739206		2203	4300	6503	SO:0001583	missense			BC018090	CCDS8763.1, CCDS53787.1, CCDS53788.1	12q13.11	2013-01-08				ENSG00000167528	121274	121274		Zinc fingers, C2H2-type, -	31834	protein-coding gene	gene with protein product		613906			NA		Standard	NM_152320	NM_152320	NA	Approved	FLJ31295	uc001rro.2	Q96N77		ENST00000544117.2:c.370C>T	12.37:g.48739206G>A	ENSP00000437832:p.Arg124Trp	NA	Q8TCQ7|Q8WVE1	37	CCDS8763.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.401740	0.62288	.	.	ENSG00000167528	ENST00000301042;ENST00000544117;ENST00000547026;ENST00000548932	T;T;T;T	0.01871	4.59;4.59;4.59;4.59	5.54	3.57	0.40892	Krueppel-associated box (4);	0.110597	0.40908	D	0.000997	T	0.08179	0.0204	L	0.61387	1.9	0.40170	D	0.977168	D	0.89917	1.0	D	0.67103	0.949	T	0.03706	-1.1011	10	0.66056	D	0.02	.	8.8763	0.35348	0.0:0.2757:0.5714:0.1529	.	124	Q96N77	ZN641_HUMAN	W	124;124;110;124	ENSP00000301042:R124W;ENSP00000437832:R124W;ENSP00000449974:R110W;ENSP00000448810:R124W	ENSP00000301042:R124W	R	-	1	2	ZNF641	47025473	0.930000	0.31532	1.000000	0.80357	0.999000	0.98932	1.077000	0.30741	1.472000	0.48140	0.655000	0.94253	CGG	ZNF641-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406518.1		-	ENST00000544117.2	Missense_Mutation	SNP	12 : 48739206 - 48739206 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	464	84
ANKLE2	23141	broad.mit.edu	37	12	133306443	133306443	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133306443C>T	ENST00000542657.1	-	2	1824	c.370G>A	c.(370-372)Gca>Aca	p.A124T	ANKLE2_ENST00000539605.1_Missense_Mutation_p.A707T|ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000357997.5_Missense_Mutation_p.A769T|ANKLE2_ENST00000542282.1_Missense_Mutation_p.A124T			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	769						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CTTTCTACTGCATTGATTCTT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	157	159			NA	NA	12		NA											NA				133306443		1967	4164	6131	SO:0001583	missense			AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915	23141	23141		Ankyrin repeat domain containing	29101	protein-coding gene	gene with protein product	LEM domain containing 7		KIAA0692	KIAA0692	NA	9734811	Standard		XM_005266159	NA	Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000542657.1:c.370G>A	12.37:g.133306443C>T	ENSP00000438551:p.Ala124Thr	NA	O75176|Q6P6A5|Q8TAZ9|Q96DH4	37		.	.	.	.	.	.	.	.	.	.	C	11.24	1.581649	0.28180	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000542282;ENST00000542657;ENST00000538766	T;T;T;T;T	0.45668	1.92;1.91;0.89;0.89;0.89	5.59	-5.42	0.02640	.	2.199350	0.01281	N	0.009726	T	0.32675	0.0837	L	0.54323	1.7	0.09310	N	1	B	0.18741	0.03	B	0.14023	0.01	T	0.13176	-1.0519	10	0.41790	T	0.15	-12.5222	1.7488	0.02967	0.1812:0.1285:0.3542:0.3362	.	769	Q86XL3	ANKL2_HUMAN	T	707;769;124;124;124	ENSP00000446268:A707T;ENSP00000350686:A769T;ENSP00000437807:A124T;ENSP00000438551:A124T;ENSP00000445760:A124T	ENSP00000350686:A769T	A	-	1	0	ANKLE2	131816516	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.363000	0.07593	-0.884000	0.03976	-0.872000	0.02987	GCA	ANKLE2-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000397714.1		-	ENST00000542657.1	Missense_Mutation	SNP	12 : 133306443 - 133306443 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	523	88
RYR1	6261	broad.mit.edu	37	19	38937111	38937111	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38937111G>T	ENST00000355481.4	+	8	762		c.e8-1		RYR1_ENST00000359596.3_Splice_Site|RYR1_ENST00000360985.3_Splice_Site	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	NA					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)	CTCCTCTCCAGGCTTCGTGAC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	57	61			NA	NA	19		NA											NA				38937111		2203	4300	6503	SO:0001630	splice_region_variant			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.632-1G>T	19.37:g.38937111G>T		NA	Q16314|Q16368|Q9NPK1|Q9P1U4	37	CCDS42563.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041738	0.55003	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9087	0.79450	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR1	43628951	1.000000	0.71417	0.995000	0.50966	0.417000	0.31264	7.361000	0.79497	2.627000	0.88993	0.563000	0.77884	.	RYR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461017.2	Intron	+	ENST00000355481.4	Splice_Site	SNP	19 : 38937111 - 38937111 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	247	51
ASTN1	460	broad.mit.edu	37	1	176915202	176915202	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176915202C>T	ENST00000367657.3	-	13	2299	c.2109G>A	c.(2107-2109)acG>acA	p.T703T	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367654.3_Silent_p.T711T|ASTN1_ENST00000361833.2_Silent_p.T703T|ASTN1_ENST00000424564.2_Silent_p.T703T			O14525	ASTN1_HUMAN	astrotactin 1	711	EGF-like 3.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GACAGGTCTCCGTGATGAGTT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	99	103			NA	NA	1		NA											NA				176915202		2203	4300	6503	SO:0001819	synonymous_variant			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092	460	460			773	protein-coding gene	gene with protein product		600904	astrotactin	ASTN	NA	9070947	Standard	NM_004319	NM_001286164	NA	Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367657.3:c.2109G>A	1.37:g.176915202C>T		NA	O60799|Q5W0V7|Q5W0V8	37																																																																																				ASTN1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000084823.1		-	ENST00000367657.3	Silent	SNP	1 : 176915202 - 176915202 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	601	102
AMER3	205147	broad.mit.edu	37	2	131520443	131520443	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131520443C>T	ENST00000423981.1	+	2	908	c.798C>T	c.(796-798)aaC>aaT	p.N266N	AMER3_ENST00000321420.4_Silent_p.N266N	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3	NA											NA						TGGAGCTGAACGAGGGCCCGG	0.672		NA											C	0	0	NA	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0	0	EXOME	NA	NA	0.0013	SNP								NA				0								C	,,,	1,4405	2.1+/-5.4	0,1,2202	38	43	42		798,798,798,798	-10.4	0	2		42	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FAM123C	NM_001105193.1,NM_001105194.1,NM_001105195.1,NM_152698.2	,,,	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	,,,	266/862,266/862,266/862,266/862	131520443	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171	205147	205147		-	26771	protein-coding gene	gene with protein product			family with sequence similarity 123C	FAM123C	NA	20843316	Standard	NM_152698	NM_001105195	NA	Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.798C>T	2.37:g.131520443C>T		NA		37	CCDS2164.1																																																																																			AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254531.3		+	ENST00000423981.1	Silent	SNP	2 : 131520443 - 131520443 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	416	117
AFF3	3899	broad.mit.edu	37	2	100210030	100210030	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100210030G>A	ENST00000409236.2	-	13	2205	c.2093C>T	c.(2092-2094)gCc>gTc	p.A698V	AFF3_ENST00000409579.1_Missense_Mutation_p.A723V|AFF3_ENST00000317233.4_Missense_Mutation_p.A698V|AFF3_ENST00000356421.2_Missense_Mutation_p.A723V			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	NA					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGAGGCAGAGGCAGCCACGGT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	59	57			NA	NA	2		NA											NA				100210030		2203	4297	6500	SO:0001583	missense			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218	3899	3899			6473	protein-coding gene	gene with protein product		601464	lymphoid nuclear protein related to AF4	LAF4	NA	8662235, 8555498	Standard	NM_002285	XM_005263945	NA	Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2093C>T	2.37:g.100210030G>A	ENSP00000387207:p.Ala698Val	NA	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	37	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	7.292	0.611297	0.14066	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	3.87	3.87	0.44632	.	1.118960	0.06955	N	0.815285	T	0.51075	0.1653	N	0.22421	0.69	0.09310	N	1	B;B;B	0.30851	0.297;0.017;0.069	B;B;B	0.32342	0.144;0.026;0.025	T	0.38134	-0.9675	10	0.25106	T	0.35	.	12.7151	0.57111	0.0:0.0:1.0:0.0	.	851;698;723	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	V	698;723;723;698;698;851;723	ENSP00000317421:A698V;ENSP00000348793:A723V;ENSP00000386834:A723V;ENSP00000387207:A698V	ENSP00000317421:A698V	A	-	2	0	AFF3	99576462	0.219000	0.23619	0.002000	0.10522	0.221000	0.24807	3.346000	0.52190	1.672000	0.50884	0.561000	0.74099	GCC	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328982.3		-	ENST00000409236.2	Missense_Mutation	SNP	2 : 100210030 - 100210030 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	642	168
NFASC	23114	broad.mit.edu	37	1	204985538	204985538	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204985538C>T	ENST00000401399.1	+	29	3793	c.3594C>T	c.(3592-3594)ggC>ggT	p.G1198G	NFASC_ENST00000404907.1_Silent_p.G1132G|NFASC_ENST00000338515.6_Silent_p.G1215G|NFASC_ENST00000367172.4_Silent_p.G1305G|NFASC_ENST00000339876.6_Silent_p.G1198G|NFASC_ENST00000367171.4_Silent_p.G1290G|NFASC_ENST00000513543.1_Silent_p.G1127G|NFASC_ENST00000338586.6_Silent_p.G1182G|NFASC_ENST00000360049.4_Silent_p.G1127G|NFASC_ENST00000539706.1_Silent_p.G1132G|NFASC_ENST00000404076.1_Silent_p.G1115G|NFASC_ENST00000367170.4_Silent_p.G1226G|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000367169.4_Silent_p.G1029G			O94856	NFASC_HUMAN	neurofascin	1305	Fibronectin type-III 5.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCGAGGGTGGCGAGGGTCAGT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													200	180	186			NA	NA	1		NA											NA				204985538		2203	4300	6503	SO:0001819	synonymous_variant			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531	23114	23114		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	29866	protein-coding gene	gene with protein product		609145	neurofascin homolog (chicken)		NA	1377696, 8672144	Standard	NM_001005388	NM_015090	NA	Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.3594C>T	1.37:g.204985538C>T		NA	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	37	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	C	9.569	1.120606	0.20877	.	.	ENSG00000163531	ENST00000367173;ENST00000425360	.	.	.	5.34	-2.51	0.06365	.	.	.	.	.	T	0.42787	0.1218	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33954	-0.9848	4	.	.	.	.	4.3579	0.11187	0.1509:0.3015:0.4082:0.1395	.	.	.	.	V	999;256	.	.	A	+	2	0	NFASC	203252161	0.000000	0.05858	0.967000	0.41034	0.968000	0.65278	-2.994000	0.00656	-0.231000	0.09825	-0.344000	0.07964	GCG	NFASC-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131237.1		+	ENST00000401399.1	Silent	SNP	1 : 204985538 - 204985538 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	787	73
LEMD2	221496	broad.mit.edu	37	6	33744789	33744789	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33744789G>A	ENST00000293760.5	-	8	1322	c.1303C>T	c.(1303-1305)Cgc>Tgc	p.R435C	LEMD2_ENST00000508327.1_Missense_Mutation_p.R133C|LEMD2_ENST00000502643.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	435						integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						TATGGATAGCGCTCCATGTCC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	98	106			NA	NA	6		NA											NA				33744789		2203	4300	6503	SO:0001583	missense				CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904	221496	221496			21244	protein-coding gene	gene with protein product					NA	12477932	Standard	XM_166338	NM_001143944	NA	Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.1303C>T	6.37:g.33744789G>A	ENSP00000293760:p.Arg435Cys	NA	Q5T972|Q5T974	37	CCDS4785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.3|25.3	4.626849|4.626849	0.87560|0.87560	.|.	.|.	ENSG00000161904|ENSG00000161904	ENST00000504692|ENST00000506578;ENST00000293760;ENST00000508327	.|.	.|.	.|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|Inner nuclear membrane protein MAN1 (1);	.|0.000000	.|0.64402	.|D	.|0.000017	T|T	0.61073|0.61073	0.2318|0.2318	L|L	0.47716|0.47716	1.5|1.5	0.58432|0.58432	D|D	0.999992|0.999992	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.997;0.96	T|T	0.59467|0.59467	-0.7449|-0.7449	5|9	.|0.37606	.|T	.|0.19	-4.7724|-4.7724	13.0204|13.0204	0.58784|0.58784	0.0734:0.0:0.9266:0.0|0.0734:0.0:0.9266:0.0	.|.	.|435;396	.|Q8NC56;A8MS91	.|LEMD2_HUMAN;.	V|C	82|18;435;133	.|.	.|ENSP00000293760:R435C	A|R	-|-	2|1	0|0	LEMD2|LEMD2	33852767|33852767	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	6.154000|6.154000	0.71826|0.71826	2.653000|2.653000	0.90120|0.90120	0.563000|0.563000	0.77884|0.77884	GCG|CGC	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040209.3		-	ENST00000293760.5	Missense_Mutation	SNP	6 : 33744789 - 33744789 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	377	82
ADRBK1	156	broad.mit.edu	37	11	67049925	67049925	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67049925G>A	ENST00000308595.5	+	13	1362	c.1072G>A	c.(1072-1074)Gct>Act	p.A358T	ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Missense_Mutation_p.A358T	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	358	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CGGGTACATGGCTCCGGAGGT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	78	78			NA	NA	11		NA											NA				67049925		2200	4295	6495	SO:0001583	missense			X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020	156	156		Pleckstrin homology (PH) domain containing	289	protein-coding gene	gene with protein product		109635			NA	2037065	Standard	NM_001619	NM_001619	NA	Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1072G>A	11.37:g.67049925G>A	ENSP00000312262:p.Ala358Thr	NA	B0ZBE1|Q13837|Q6GTT3	37	CCDS8156.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.537423	0.85917	.	.	ENSG00000173020	ENST00000308595;ENST00000526285	T;T	0.53423	0.62;0.62	5.7	4.76	0.60689	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000011	T	0.80391	0.4614	H	0.97918	4.105	0.58432	D	0.999994	D;D	0.89917	0.997;1.0	D;D	0.77004	0.96;0.989	D	0.87699	0.2559	10	0.87932	D	0	-2.0703	16.7385	0.85453	0.0:0.1288:0.8712:0.0	.	358;358	P25098;E9PRV7	ARBK1_HUMAN;.	T	358	ENSP00000312262:A358T;ENSP00000434126:A358T	ENSP00000312262:A358T	A	+	1	0	ADRBK1	66806501	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	7.562000	0.82300	2.688000	0.91661	0.655000	0.94253	GCT	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393153.1		+	ENST00000308595.5	Missense_Mutation	SNP	11 : 67049925 - 67049925 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	532	86
SOWAHB	345079	broad.mit.edu	37	4	77817328	77817328	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77817328C>T	ENST00000334306.2	-	1	1674	c.1675G>A	c.(1675-1677)Gcc>Acc	p.A559T		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	559											NA						CCCCGCTCGGCCACAACAGCC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	42	42			NA	NA	4		NA											NA				77817328		2203	4300	6503	SO:0001583	missense				CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212	345079	345079		Ankyrin repeat domain containing	32958	protein-coding gene	gene with protein product			ankyrin repeat domain 56	ANKRD56	NA	22234889	Standard	NM_001029870	NM_001029870	NA	Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.1675G>A	4.37:g.77817328C>T	ENSP00000334879:p.Ala559Thr	NA	B2RP29	37	CCDS34017.1	.	.	.	.	.	.	.	.	.	.	C	5.818	0.335244	0.11013	.	.	ENSG00000186212	ENST00000334306	T	0.05025	3.51	4.96	3.05	0.35203	.	1.548280	0.05051	U	0.478157	T	0.03959	0.0111	N	0.08118	0	0.09310	N	1	B	0.20550	0.046	B	0.17098	0.017	T	0.34601	-0.9822	10	0.10111	T	0.7	0.1086	9.3597	0.38188	0.1518:0.7645:0.0:0.0837	.	559	A6NEL2	ANR56_HUMAN	T	559	ENSP00000334879:A559T	ENSP00000334879:A559T	A	-	1	0	ANKRD56	78036352	0.000000	0.05858	0.004000	0.12327	0.040000	0.13550	-0.962000	0.03841	1.277000	0.44412	0.591000	0.81541	GCC	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362762.1		-	ENST00000334306.2	Missense_Mutation	SNP	4 : 77817328 - 77817328 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	275	62
SPG20	23111	broad.mit.edu	37	13	36900795	36900795	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36900795A>G	ENST00000451493.1	-	5	1422	c.1205T>C	c.(1204-1206)aTt>aCt	p.I402T	SPG20_ENST00000494062.2_Missense_Mutation_p.I402T|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000355182.4_Missense_Mutation_p.I402T|SPG20_ENST00000438666.2_Missense_Mutation_p.I402T	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	402					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		ACATGGTACAATGTGACTCAG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	84	88			NA	NA	13		NA											NA				36900795		2203	4300	6503	SO:0001583	missense			AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104	23111	23111			18514	protein-coding gene	gene with protein product	spartin	607111			NA	6022528, 12134148	Standard		NM_001142294	NA	Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.1205T>C	13.37:g.36900795A>G	ENSP00000414147:p.Ile402Thr	NA	O60349|Q86Y67|Q9H1T2|Q9H1T3	37	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	A	9.032	0.987410	0.18889	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.87729	-2.29;-2.29;-2.29	5.68	2.02	0.26589	.	0.388105	0.26092	N	0.026399	T	0.73140	0.3549	N	0.24115	0.695	0.25394	N	0.988507	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.54146	-0.8337	10	0.12766	T	0.61	-3.3442	6.8046	0.23770	0.5431:0.0:0.4569:0.0	.	402;402;402	A8K6Q9;B3KMI3;Q8N0X7	.;.;SPG20_HUMAN	T	402	ENSP00000406061:I402T;ENSP00000347314:I402T;ENSP00000414147:I402T	ENSP00000347314:I402T	I	-	2	0	SPG20	35798795	1.000000	0.71417	0.996000	0.52242	0.914000	0.54420	2.090000	0.41682	0.435000	0.26365	0.460000	0.39030	ATT	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044494.2		-	ENST00000451493.1	Missense_Mutation	SNP	13 : 36900795 - 36900795 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	184	27
ADSS	159	broad.mit.edu	37	1	244579342	244579342	+	Missense_Mutation	SNP	G	G	A	rs147946123	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:244579342G>A	ENST00000366535.3	-	11	1425	c.1109C>T	c.(1108-1110)aCg>aTg	p.T370M		NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	adenylosuccinate synthase	370					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	TTTGATTTCCGTAAACATGTC	0.338		NA											G	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	4e-04	0.95	LOWCOV	NA	NA	5e-04	SNP								NA				0													91	83	86			NA	NA	1		NA											NA				244579342		2203	4299	6502	SO:0001583	missense			BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	159	159	6.3.4.4		292	protein-coding gene	gene with protein product		103060			NA	2004783, 1592113	Standard	NM_001126	NM_001126	NA	Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.1109C>T	1.37:g.244579342G>A	ENSP00000355493:p.Thr370Met	NA	B1AQM5|Q96EG7	37	CCDS1624.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	20.7	4.032702	0.75504	.	.	ENSG00000035687	ENST00000366535;ENST00000449326	T	0.43688	0.94	5.32	5.32	0.75619	.	0.152816	0.64402	D	0.000019	T	0.36110	0.0955	N	0.19112	0.55	0.38964	D	0.958613	P	0.44776	0.843	B	0.42851	0.4	T	0.41413	-0.9510	10	0.72032	D	0.01	-13.6572	18.999	0.92826	0.0:0.0:1.0:0.0	.	370	P30520	PURA2_HUMAN	M	370;349	ENSP00000355493:T370M	ENSP00000355493:T370M	T	-	2	0	ADSS	242645965	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.281000	0.51685	2.470000	0.83445	0.563000	0.77884	ACG	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096697.1		-	ENST00000366535.3	Missense_Mutation	SNP	1 : 244579342 - 244579342 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	304	83
MYO5A	4644	broad.mit.edu	37	15	52656853	52656853	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52656853G>A	ENST00000399231.3	-	24	3450	c.3207C>T	c.(3205-3207)ctC>ctT	p.L1069L	MYO5A_ENST00000553916.1_Silent_p.L1069L|MYO5A_ENST00000358212.6_Silent_p.L1069L|MYO5A_ENST00000399233.2_Silent_p.L1069L|MYO5A_ENST00000356338.6_Silent_p.L1069L	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1069					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CATTAAGGTCGAGTTCCAGTT	0.388		NA											G	3	0.0014	NA	NA	2184	0.01	0.9995	,	,	NA	3e-04	NA	NA	NA	0.0016	0.8593	LOWCOV	NA	NA	4e-04	SNP								NA				0													175	158	163			NA	NA	15		NA											NA				52656853		1842	4088	5930	SO:0001819	synonymous_variant				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535	4644	4644		Myosins / Myosin superfamily : Class V	7602	protein-coding gene	gene with protein product	myosin, heavy polypeptide kinase, myosin heavy chain 12, myoxin, myosin V	160777	myosin VA (heavy polypeptide 12, myoxin)	MYH12	NA	8188282, 8022818	Standard	NM_000259	NM_000259	NA	Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.3207C>T	15.37:g.52656853G>A		NA	A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	37	CCDS42037.1																																																																																			MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268102.1		-	ENST00000399231.3	Silent	SNP	15 : 52656853 - 52656853 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	564	48
WDHD1	11169	broad.mit.edu	37	14	55455901	55455901	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55455901G>T	ENST00000360586.3	-	13	1436	c.1371C>A	c.(1369-1371)tgC>tgA	p.C457*	WDHD1_ENST00000421192.1_Nonsense_Mutation_p.C334*|WDHD1_ENST00000359167.4_Intron|WDHD1_ENST00000420358.2_Nonsense_Mutation_p.C334*	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	457						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CATCATTATAGCAGCGAATAA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	116	124			NA	NA	14		NA											NA				55455901		2203	4300	6503	SO:0001587	stop_gained			AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554	11169	11169		WD repeat domain containing	23170	protein-coding gene	gene with protein product	CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)	608126			NA	9175701, 20028748	Standard	NM_007086	NM_007086	NA	Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.1371C>A	14.37:g.55455901G>T	ENSP00000353793:p.Cys457*	NA		37	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	G	41	8.669991	0.98908	.	.	ENSG00000198554	ENST00000360586;ENST00000421192	.	.	.	5.28	5.28	0.74379	.	0.099841	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3974	9.0848	0.36574	0.2059:0.0:0.7941:0.0	.	.	.	.	X	457;334	.	ENSP00000353793:C457X	C	-	3	2	WDHD1	54525651	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.181000	0.42547	2.465000	0.83290	0.591000	0.81541	TGC	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276897.2		-	ENST00000360586.3	Nonsense_Mutation	SNP	14 : 55455901 - 55455901 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	48
MAP7D1	55700	broad.mit.edu	37	1	36640530	36640530	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36640530C>T	ENST00000373151.2	+	6	987	c.771C>T	c.(769-771)aaC>aaT	p.N257N	MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373150.4_Silent_p.N257N|MAP7D1_ENST00000316156.4_Intron	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	257						cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CGGCAGTTAACCTGCCCAAAC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	64	64			NA	NA	1		NA											NA				36640530		2203	4300	6503	SO:0001819	synonymous_variant			AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871	55700	55700			25514	protein-coding gene	gene with protein product			proline arginine rich coiled coil 1, arginine/proline rich coiled-coil 1	PARCC1, RPRC1	NA	10574461	Standard	NM_018067	XM_005271024	NA	Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.771C>T	1.37:g.36640530C>T		NA	D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	37	CCDS30673.1																																																																																			MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382095.1		+	ENST00000373151.2	Silent	SNP	1 : 36640530 - 36640530 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	260	34
ASPM	259266	broad.mit.edu	37	1	197069629	197069629	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197069629C>A	ENST00000367409.4	-	18	9008	c.8752G>T	c.(8752-8754)Gct>Tct	p.A2918S	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2918	IQ 33.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTACTTCTAGCTTGAATAATG	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	57	56			NA	NA	1		NA											NA				197069629		2203	4296	6499	SO:0001583	missense			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279	259266	259266			19048	protein-coding gene	gene with protein product		605481	microcephaly, primary autosomal recessive 5, asp (abnormal spindle)-like, microcephaly associated (Drosophila)	MCPH5	NA	11078481	Standard	NM_018136	NM_018136	NA	Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.8752G>T	1.37:g.197069629C>A	ENSP00000356379:p.Ala2918Ser	NA	Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.081809	0.36758	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.72394	-0.65	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000004	T	0.81202	0.4773	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	0.981;1.0	P;D	0.87578	0.642;0.998	T	0.77440	-0.2587	10	0.20519	T	0.43	.	13.7795	0.63075	0.1536:0.8464:0.0:0.0	.	904;2918	E7EQ84;Q8IZT6	.;ASPM_HUMAN	S	2918;904	ENSP00000356379:A2918S	ENSP00000356376:A904S	A	-	1	0	ASPM	195336252	0.993000	0.37304	0.996000	0.52242	0.374000	0.29953	0.671000	0.25172	2.530000	0.85305	0.563000	0.77884	GCT	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088256.1		-	ENST00000367409.4	Missense_Mutation	SNP	1 : 197069629 - 197069629 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	224	34
SLC19A1	6573	broad.mit.edu	37	21	46950795	46950795	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46950795G>A	ENST00000380010.4	-	4	1192	c.1040C>T	c.(1039-1041)gCg>gTg	p.A347V	SLC19A1_ENST00000567670.1_Missense_Mutation_p.A347V|SLC19A1_ENST00000485649.2_Missense_Mutation_p.A307V|SLC19A1_ENST00000311124.4_Missense_Mutation_p.A347V	NM_001205206.1	NP_001192135.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	347					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GACCAGCCCCGCCTGCGTGGC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	18	17			NA	NA	21		NA											NA				46950795		2180	4277	6457	SO:0001583	missense			U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638	6573	6573		Solute carriers	10937	protein-coding gene	gene with protein product		600424			NA	9570943	Standard		NM_194255	NA	Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000380010.4:c.1040C>T	21.37:g.46950795G>A	ENSP00000369347:p.Ala347Val	NA	B2R7U8|O00553|O60227|Q13026	37	CCDS56218.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	18.85|18.85	3.711962|3.711962	0.68730|0.68730	.|.	.|.	ENSG00000173638|ENSG00000173638	ENST00000380014;ENST00000311124;ENST00000380010;ENST00000485649|ENST00000417954	D;D;D|.	0.89552|.	-2.53;-2.53;-2.53|.	3.76|3.76	3.76|3.76	0.43208|0.43208	Major facilitator superfamily domain, general substrate transporter (1);|.	0.113799|.	0.64402|.	D|.	0.000016|.	D|D	0.83552|0.83552	0.5279|0.5279	M|M	0.91717|0.91717	3.235|3.235	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.999;0.999;1.0;0.999|.	D;D;D;D|.	0.66351|.	0.922;0.922;0.943;0.922|.	D|D	0.87984|0.87984	0.2745|0.2745	10|5	0.87932|.	D|.	0|.	-24.7675|-24.7675	15.0129|15.0129	0.71562|0.71562	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	307;369;347;347|.	B7Z8C3;D3DSM6;E9PFY4;P41440|.	.;.;.;S19A1_HUMAN|.	V|W	94;347;347;307|82	ENSP00000308895:A347V;ENSP00000369347:A347V;ENSP00000441772:A307V|.	ENSP00000308895:A347V|.	A|R	-|-	2|1	0|2	SLC19A1|SLC19A1	45775223|45775223	1.000000|1.000000	0.71417|0.71417	0.860000|0.860000	0.33809|0.33809	0.116000|0.116000	0.19942|0.19942	8.683000|8.683000	0.91236|0.91236	2.034000|2.034000	0.60081|0.60081	0.289000|0.289000	0.19496|0.19496	GCG|CGG	SLC19A1-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206797.1		-	ENST00000380010.4	Missense_Mutation	SNP	21 : 46950795 - 46950795 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	91	23
TUBGCP4	27229	broad.mit.edu	37	15	43672359	43672359	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43672359A>C	ENST00000564079.1	+	6	759	c.519A>C	c.(517-519)gaA>gaC	p.E173D	TUBGCP4_ENST00000260383.7_Missense_Mutation_p.E173D|TUBGCP4_ENST00000399460.3_Missense_Mutation_p.E37D	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	173					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GTGCACTGGAAAAGTAAGTCA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	82	82			NA	NA	15		NA											NA				43672359		1884	4107	5991	SO:0001583	missense			AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822	27229	27229			16691	protein-coding gene	gene with protein product		609610			NA	10562286	Standard	NM_014444	NM_001286414	NA	Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000564079.1:c.519A>C	15.37:g.43672359A>C	ENSP00000456648:p.Glu173Asp	NA	B3KNK6|Q969X3|Q9NVF0	37	CCDS42030.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.456013	0.84209	.	.	ENSG00000137822	ENST00000260383;ENST00000399460	T;T	0.08370	3.1;3.1	5.72	4.59	0.56863	.	0.041945	0.85682	D	0.000000	T	0.17534	0.0421	M	0.61703	1.905	0.49687	D	0.99981	D;D	0.55385	0.971;0.964	P;P	0.53490	0.727;0.606	T	0.00626	-1.1638	10	0.45353	T	0.12	-10.5663	11.0935	0.48130	0.9276:0.0:0.0724:0.0	.	173;173	Q9UGJ1;Q9UGJ1-2	GCP4_HUMAN;.	D	173;37	ENSP00000260383:E173D;ENSP00000382387:E37D	ENSP00000260383:E173D	E	+	3	2	TUBGCP4	41459651	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.748000	0.47483	1.101000	0.41535	0.533000	0.62120	GAA	TUBGCP4-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432971.1		+	ENST00000564079.1	Missense_Mutation	SNP	15 : 43672359 - 43672359 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	238	40
FRMD6	122786	broad.mit.edu	37	14	52182142	52182142	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52182142C>T	ENST00000395718.2	+	10	1210	c.925C>T	c.(925-927)Ctg>Ttg	p.L309L	FRMD6_ENST00000554167.1_Silent_p.L240L|FRMD6_ENST00000344768.5_Silent_p.L317L|FRMD6_ENST00000356218.4_Silent_p.L309L	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	317	FERM.					cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					CCTGCAACTTCTGAGCAACAG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	62	61			NA	NA	14		NA											NA				52182142		2203	4300	6503	SO:0001819	synonymous_variant			BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926	122786	122786			19839	protein-coding gene	gene with protein product	expanded homolog	614555	chromosome 14 open reading frame 31	C14orf31	NA		Standard	NM_152330	NM_152330	NA	Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000395718.2:c.925C>T	14.37:g.52182142C>T		NA	D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	37	CCDS9704.1																																																																																			FRMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276880.1		+	ENST00000395718.2	Silent	SNP	14 : 52182142 - 52182142 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	469	101
STYK1	55359	broad.mit.edu	37	12	10774566	10774566	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10774566G>A	ENST00000075503.3	-	10	1493	c.973C>T	c.(973-975)Cca>Tca	p.P325S		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	325	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						GGATACGGTGGTGCTCCTGTC	0.423		NA								HNSCC(73;0.22)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	167	171			NA	NA	12		NA											NA				10774566		2203	4300	6503	SO:0001583	missense			AF251059	CCDS8629.1	12p13.2	2005-01-21					55359	55359			18889	protein-coding gene	gene with protein product		611433			NA	12841579	Standard	NM_018423	NM_018423	NA	Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.973C>T	12.37:g.10774566G>A	ENSP00000075503:p.Pro325Ser	NA	B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	37	CCDS8629.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307667	0.81247	.	.	ENSG00000060140	ENST00000075503	T	0.70631	-0.5	5.38	5.38	0.77491	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.082542	0.51477	D	0.000083	T	0.61160	0.2325	L	0.31120	0.905	0.48632	D	0.999687	P	0.38677	0.642	B	0.43052	0.406	T	0.58584	-0.7611	10	0.02654	T	1	-12.4581	16.6127	0.84892	0.0:0.0:1.0:0.0	.	325	Q6J9G0	STYK1_HUMAN	S	325	ENSP00000075503:P325S	ENSP00000075503:P325S	P	-	1	0	STYK1	10665833	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.090000	0.71397	2.514000	0.84764	0.655000	0.94253	CCA	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399622.1		-	ENST00000075503.3	Missense_Mutation	SNP	12 : 10774566 - 10774566 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	439	90
NAV3	89795	broad.mit.edu	37	12	78571064	78571064	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78571064A>G	ENST00000397909.2	+	27	5441	c.5268A>G	c.(5266-5268)gcA>gcG	p.A1756A	NAV3_ENST00000228327.6_Silent_p.A1756A|NAV3_ENST00000266692.7_Silent_p.A1579A|NAV3_ENST00000536525.2_Silent_p.A1756A			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1756						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GTGGCTCAGCATCCATGAAGC	0.433		NA								HNSCC(70;0.22)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	107	110			NA	NA	12		NA											NA				78571064		1904	4137	6041	SO:0001819	synonymous_variant			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798	89795	89795			15998	protein-coding gene	gene with protein product	pore membrane and/or filament interacting like protein 1, steerin 3	611629			NA	12079279, 12062803	Standard	NM_001024383	XM_005269215	NA	Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.5268A>G	12.37:g.78571064A>G		NA	Q8NFW7|Q9Y2E7	37		.	.	.	.	.	.	.	.	.	.	A	0.023	-1.397454	0.01175	.	.	ENSG00000067798	ENST00000552895	.	.	.	5.95	-4.39	0.03611	.	.	.	.	.	T	0.35364	0.0929	.	.	.	0.32552	N	0.532221	.	.	.	.	.	.	T	0.48115	-0.9063	4	.	.	.	0.4945	6.924	0.24403	0.4447:0.324:0.2312:0.0	.	.	.	.	V	651	.	.	I	+	1	0	NAV3	77095195	0.001000	0.12720	0.008000	0.14137	0.217000	0.24651	-0.203000	0.09438	-0.648000	0.05437	-1.063000	0.02288	ATC	NAV3-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000406812.1		+	ENST00000397909.2	Silent	SNP	12 : 78571064 - 78571064 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	606	118
OASL	8638	broad.mit.edu	37	12	121458478	121458478	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121458478T>G	ENST00000257570.5	-	6	1701	c.1431A>C	c.(1429-1431)gaA>gaC	p.E477D	OASL_ENST00000339275.5_3'UTR	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	477	Ubiquitin-like 2.				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGCCTTGGAATTCCAGCTGCT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(192;517 2041 31392 31913 39966)							NA				0													75	72	73			NA	NA	12		NA											NA				121458478		2203	4300	6503	SO:0001583	missense			AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114	8638	8638			8090	protein-coding gene	gene with protein product		603281			NA	10087211	Standard	NM_003733	NM_003733	NA	Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.1431A>C	12.37:g.121458478T>G	ENSP00000257570:p.Glu477Asp	NA	O75686|Q17R95|Q9Y6K6|Q9Y6K7	37	CCDS9211.1	.	.	.	.	.	.	.	.	.	.	T	13.49	2.254112	0.39896	.	.	ENSG00000135114	ENST00000257570	T	0.73152	-0.72	5.65	1.84	0.25277	Ubiquitin supergroup (1);Ubiquitin (2);	0.962372	0.08539	N	0.930852	T	0.60676	0.2287	L	0.41236	1.265	0.09310	N	1	P	0.38677	0.642	B	0.37550	0.253	T	0.49523	-0.8931	10	0.52906	T	0.07	-0.1712	7.0538	0.25087	0.0:0.6396:0.0:0.3604	.	477	Q15646	OASL_HUMAN	D	477	ENSP00000257570:E477D	ENSP00000257570:E477D	E	-	3	2	OASL	119942861	0.208000	0.23494	0.001000	0.08648	0.070000	0.16714	0.949000	0.29109	0.173000	0.19788	-0.242000	0.12053	GAA	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337875.2		-	ENST00000257570.5	Missense_Mutation	SNP	12 : 121458478 - 121458478 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	271	12
PDCD1	5133	broad.mit.edu	37	2	242794943	242794943	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242794943G>A	ENST00000334409.5	-	2	335	c.266C>T	c.(265-267)cCc>cTc	p.P89L		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	89	Ig-like V-type.				apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		GTCCTGGCCGGGCTGGCTGCG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	42	42			NA	NA	2		NA											NA				242794943		2203	4300	6503	SO:0001583	missense			AY206416	CCDS33428.1	2q37.3	2014-01-29			ENSG00000188389	ENSG00000188389	5133	5133		CD molecules, Immunoglobulin superfamily / V-set domain containing	8760	protein-coding gene	gene with protein product		600244	systemic lupus erythematosus susceptibility 2	SLEB2	NA	7851902, 12402038	Standard	NM_005018	NM_005018	NA	Approved	CD279, PD1, hSLE1	uc002wcq.4	Q15116	OTTHUMG00000151342	ENST00000334409.5:c.266C>T	2.37:g.242794943G>A	ENSP00000335062:p.Pro89Leu	NA	O00517	37	CCDS33428.1	.	.	.	.	.	.	.	.	.	.	.	14.12	2.439872	0.43326	.	.	ENSG00000188389	ENST00000334409;ENST00000539073	T	0.17854	2.25	3.01	-0.0193	0.13960	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	1.180690	0.06298	N	0.700368	T	0.27900	0.0687	M	0.79805	2.47	0.09310	N	1	D;D	0.61080	0.989;0.989	P;P	0.50708	0.648;0.648	T	0.19484	-1.0304	10	0.66056	D	0.02	-2.1115	1.7204	0.02910	0.1259:0.2057:0.4576:0.2109	.	89;89	Q8IX89;Q15116	.;PDCD1_HUMAN	L	89	ENSP00000335062:P89L	ENSP00000335062:P89L	P	-	2	0	PDCD1	242443616	0.041000	0.20044	0.001000	0.08648	0.685000	0.39939	0.153000	0.16323	-0.013000	0.14199	0.457000	0.33378	CCC	PDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322313.1		-	ENST00000334409.5	Missense_Mutation	SNP	2 : 242794943 - 242794943 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	272	38
C1QTNF9B	387911	broad.mit.edu	37	13	24465977	24465977	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24465977C>T	ENST00000382140.2	-	5	513	c.453G>A	c.(451-453)ccG>ccA	p.P151P	C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382137.3_Silent_p.P151P			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	151	Collagen-like 2.					collagen		p.P151P(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						CCATGGGGCCCGGTAAACCAG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)						C	,,	1,4389		0,1,2194	15	22	20		453,231,258	-1.8	0	13		20	4,8586		0,4,4291	no	coding-synonymous,coding-synonymous,coding-synonymous	C1QTNF9B,C1QTNF9B-AS1	NM_001007537.1,NM_001014442.2,NM_001135816.1	,,	0,5,6485	TT,TC,CC	NA	0.0466,0.0228,0.0385	,,	151/334,77/108,86/117	24465977	5,12975	2195	4295	6490	SO:0001819	synonymous_variant			BC110413	CCDS31947.1	13q12.12	2011-05-08			ENSG00000205863	ENSG00000205863	387911	387911			34072	protein-coding gene	gene with protein product		614148			NA	17544811	Standard	NM_001007537	NM_001007537	NA	Approved	CTRP9B	uc010tcv.1	B2RNN3	OTTHUMG00000016570	ENST00000382140.2:c.453G>A	13.37:g.24465977C>T		NA	A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	37	CCDS31947.1																																																																																			C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044162.3		-	ENST00000382140.2	Silent	SNP	13 : 24465977 - 24465977 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	29
EIF5	1983	broad.mit.edu	37	14	103805668	103805668	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103805668C>T	ENST00000216554.3	+	9	1580	c.904C>T	c.(904-906)Cga>Tga	p.R302*	EIF5_ENST00000558506.1_Nonsense_Mutation_p.R302*|EIF5_ENST00000392715.2_Nonsense_Mutation_p.R302*	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	302	W2.				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			CCATTTCCTACGAGTAAGCAA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	68	67			NA	NA	14		NA											NA				103805668		2203	4300	6503	SO:0001587	stop_gained			U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664	1983	1983			3299	protein-coding gene	gene with protein product		601710			NA	8663286	Standard	NM_001969	NM_001969	NA	Approved		uc001ymq.4	P55010		ENST00000216554.3:c.904C>T	14.37:g.103805668C>T	ENSP00000216554:p.Arg302*	NA	Q53XB3|Q9H5N2|Q9UG48	37	CCDS9980.1	.	.	.	.	.	.	.	.	.	.	.	42	9.308945	0.99132	.	.	ENSG00000100664	ENST00000216554;ENST00000392715	.	.	.	5.39	2.36	0.29203	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.4976	13.3204	0.60430	0.3965:0.6035:0.0:0.0	.	.	.	.	X	302	.	ENSP00000216554:R302X	R	+	1	2	EIF5	102875421	0.999000	0.42202	0.856000	0.33681	0.561000	0.35649	1.540000	0.36115	0.160000	0.19432	0.460000	0.39030	CGA	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415329.2		+	ENST00000216554.3	Nonsense_Mutation	SNP	14 : 103805668 - 103805668 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	473	76
SPECC1	92521	broad.mit.edu	37	17	20135688	20135688	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:20135688G>T	ENST00000395522.2	+	5	2192	c.2078G>T	c.(2077-2079)gGc>gTc	p.G693V	SPECC1_ENST00000536879.1_Missense_Mutation_p.G114V|SPECC1_ENST00000584527.1_Missense_Mutation_p.G192V|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395529.3_Missense_Mutation_p.G774V|SPECC1_ENST00000395527.4_Missense_Mutation_p.G774V|SPECC1_ENST00000472876.1_3'UTR|SPECC1_ENST00000261503.5_Missense_Mutation_p.G774V|SPECC1_ENST00000395525.3_Missense_Mutation_p.G693V|SPECC1_ENST00000395530.2_Missense_Mutation_p.G693V	NM_001033554.2|NM_001243438.1	NP_001028726.1|NP_001230367.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	774						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		CAGGGCCACGGCAGGGTGGTC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	21	20			NA	NA	17		NA											NA				20135688		2202	4300	6502	SO:0001583	missense			AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487	92521	92521			30615	protein-coding gene	gene with protein product	sperm antigen HCMOGT 1, cytokinesis and spindle organization B, cytospin B	608793			NA	15602574, 18763323, 15087372	Standard	NM_152904	NM_001033553	NA	Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000395522.2:c.2078G>T	17.37:g.20135688G>T	ENSP00000378893:p.Gly693Val	NA	B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	37	CCDS58531.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.173358	0.38413	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529;ENST00000536879;ENST00000395522;ENST00000395527;ENST00000395525	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	4.22	3.25	0.37280	.	0.454273	0.30639	N	0.009192	T	0.25232	0.0613	N	0.08118	0	0.49483	D	0.999797	B;P;P;P;B	0.43633	0.136;0.789;0.813;0.631;0.136	B;B;B;B;B	0.42692	0.091;0.268;0.395;0.395;0.091	T	0.10154	-1.0642	10	0.52906	T	0.07	-1.4567	10.6138	0.45439	0.0966:0.0:0.9034:0.0	.	774;693;693;774;774	A8MV89;Q5M775-4;Q5M775-3;Q5M775-2;Q5M775	.;.;.;.;CYTSB_HUMAN	V	774;774;774;114;693;693;693	ENSP00000261503:G774V;ENSP00000378900:G774V;ENSP00000438294:G114V;ENSP00000378893:G693V;ENSP00000378896:G693V	ENSP00000261503:G774V	G	+	2	0	SPECC1	20076280	1.000000	0.71417	0.866000	0.34008	0.636000	0.38137	3.370000	0.52372	1.365000	0.46057	0.655000	0.94253	GGC	SPECC1-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132367.4		+	ENST00000395522.2	Missense_Mutation	SNP	17 : 20135688 - 20135688 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	163	32
MAP3K1	4214	broad.mit.edu	37	5	56177918	56177918	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56177918G>T	ENST00000399503.3	+	14	2891	c.2891G>T	c.(2890-2892)aGt>aTt	p.S964I		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	964					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AGACCCCACAGTCAGTGTTTG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	111	111			NA	NA	5		NA											NA				56177918		1912	4145	6057	SO:0001583	missense			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015	4214	4214		Mitogen-activated protein kinase cascade / Kinase kinase kinases	6848	protein-coding gene	gene with protein product		600982	mitogen-activated protein kinase kinase kinase 1	MEKK1	NA	8597633	Standard	XM_042066	NM_005921	NA	Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2891G>T	5.37:g.56177918G>T	ENSP00000382423:p.Ser964Ile	NA		37	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475157	0.63737	.	.	ENSG00000095015	ENST00000399503	T	0.37235	1.21	5.71	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.42966	0.1226	L	0.54323	1.7	0.54753	D	0.999986	P	0.47409	0.895	P	0.47470	0.548	T	0.43653	-0.9378	10	0.72032	D	0.01	.	14.4987	0.67707	0.0703:0.0:0.9297:0.0	.	964	Q13233	M3K1_HUMAN	I	964	ENSP00000382423:S964I	ENSP00000382423:S964I	S	+	2	0	MAP3K1	56213675	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.230000	0.65321	1.421000	0.47157	0.655000	0.94253	AGT	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132309.2		+	ENST00000399503.3	Missense_Mutation	SNP	5 : 56177918 - 56177918 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	483	105
ZNF227	7770	broad.mit.edu	37	19	44740976	44740976	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44740976A>C	ENST00000313040.7	+	6	2598	c.2393A>C	c.(2392-2394)aAg>aCg	p.K798T	ZNF227_ENST00000391961.2_Missense_Mutation_p.K747T|ZNF227_ENST00000589005.1_Missense_Mutation_p.K747T|ZNF235_ENST00000589799.1_Intron	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	798					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				ACTGGTAAAAAGCTTTAGAAA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	32	33			NA	NA	19		NA											NA				44740976		2203	4294	6497	SO:0001583	missense			AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08					7770	7770		Zinc fingers, C2H2-type, -	13020	protein-coding gene	gene with protein product					NA		Standard	NM_182490	XM_005259232	NA	Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.2393A>C	19.37:g.44740976A>C	ENSP00000321049:p.Lys798Thr	NA	B3KRU7	37	CCDS12636.1	.	.	.	.	.	.	.	.	.	.	A	15.07	2.723345	0.48728	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000391961;ENST00000418980;ENST00000377916	T;T	0.09538	3.11;2.97	4.03	1.91	0.25777	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17789	0.0427	M	0.85630	2.765	0.80722	D	1	B;B;B;B	0.27910	0.084;0.042;0.193;0.084	B;B;B;B	0.32864	0.154;0.07;0.133;0.154	T	0.03095	-1.1073	9	0.87932	D	0	.	8.1488	0.31128	0.8131:0.0:0.1869:0.0	.	719;777;750;798	B7Z6M2;Q658S5;Q9NS43;Q86WZ6	.;.;.;ZN227_HUMAN	T	798;755;747;777;437	ENSP00000321049:K798T;ENSP00000375823:K747T	ENSP00000321049:K798T	K	+	2	0	ZNF227	49432816	0.199000	0.23386	0.214000	0.23707	0.427000	0.31564	1.410000	0.34691	0.683000	0.31428	0.379000	0.24179	AAG	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460720.1		+	ENST00000313040.7	Missense_Mutation	SNP	19 : 44740976 - 44740976 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	210	36
GPS1	2873	broad.mit.edu	37	17	80012478	80012478	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80012478C>T	ENST00000392358.2	+	4	870	c.521C>T	c.(520-522)gCg>gTg	p.A174V	GPS1_ENST00000306823.6_Missense_Mutation_p.A138V|GPS1_ENST00000578552.1_Missense_Mutation_p.A134V|GPS1_ENST00000355130.2_Missense_Mutation_p.A174V|GPS1_ENST00000320548.4_Missense_Mutation_p.A118V	NM_212492.1	NP_997657.1	Q13098	CSN1_HUMAN	G protein pathway suppressor 1	138					cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CGGAAGAAGGCGCTGCTGAAG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	27	29			NA	NA	17		NA											NA				80012478		2194	4294	6488	SO:0001583	missense				CCDS11800.1, CCDS32774.1	17q25.3	2013-03-14				ENSG00000169727	2873	2873			4549	protein-coding gene	gene with protein product	COP9 signalosome subunit 1	601934			NA	9535219	Standard	NM_212492	NM_212492	NA	Approved	COPS1, CSN1	uc002kdl.1	Q13098		ENST00000392358.2:c.521C>T	17.37:g.80012478C>T	ENSP00000376167:p.Ala174Val	NA	Q8NA10|Q9BWL1	37	CCDS11800.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830480	0.50845	.	.	ENSG00000169727	ENST00000392358;ENST00000320548;ENST00000306823;ENST00000355130;ENST00000392357	.	.	.	3.84	3.84	0.44239	.	0.000000	0.85682	D	0.000000	T	0.72890	0.3517	L	0.54908	1.71	0.80722	D	1	D;D;D;D;D;D	0.89917	0.995;1.0;1.0;0.993;1.0;1.0	P;D;D;P;D;D	0.74348	0.74;0.983;0.981;0.622;0.982;0.97	T	0.70641	-0.4816	9	0.26408	T	0.33	-27.5226	15.9283	0.79639	0.0:1.0:0.0:0.0	.	130;174;123;134;138;174	B4DND6;A8K070;Q13098-6;Q13098-5;Q13098;Q13098-7	.;.;.;.;CSN1_HUMAN;.	V	174;124;138;174;59	.	ENSP00000302873:A138V	A	+	2	0	GPS1	77605767	1.000000	0.71417	0.998000	0.56505	0.799000	0.45148	6.989000	0.76219	1.981000	0.57761	0.313000	0.20887	GCG	GPS1-006	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442180.1		+	ENST00000392358.2	Missense_Mutation	SNP	17 : 80012478 - 80012478 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	126	27
OR13G1	441933	broad.mit.edu	37	1	247835702	247835702	+	Silent	SNP	G	G	T	rs138408145		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247835702G>T	ENST00000359688.2	-	1	663	c.642C>A	c.(640-642)tcC>tcA	p.S214S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S214S(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TAAAACCATAGGAGATGCAGG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	skin(1)											103	97	99			NA	NA	1		NA											NA				247835702		2203	4300	6503	SO:0001819	synonymous_variant			AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437	441933	441933		GPCR / Class A : Olfactory receptors	14999	protein-coding gene	gene with protein product		611677			NA		Standard	NM_001005487	NM_001005487	NA	Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.642C>A	1.37:g.247835702G>T		NA	B2RN80|Q5T2T2|Q6IF86	37	CCDS31094.1																																																																																			OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096869.1		-	ENST00000359688.2	Silent	SNP	1 : 247835702 - 247835702 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	362	63
SLC28A1	9154	broad.mit.edu	37	15	85478712	85478712	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85478712C>T	ENST00000286749.3	+	14	1634	c.1544C>T	c.(1543-1545)gCc>gTc	p.A515V	SLC28A1_ENST00000394573.1_Missense_Mutation_p.A515V|SLC28A1_ENST00000537216.1_Missense_Mutation_p.A515V|SLC28A1_ENST00000537624.1_Missense_Mutation_p.A515V|SLC28A1_ENST00000538177.1_Intron			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	515					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTGGCAGGGGCCGAGGAGTGG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	102	104			NA	NA	15		NA											NA				85478712		2203	4299	6502	SO:0001583	missense			U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222	9154	9154		Solute carriers	11001	protein-coding gene	gene with protein product		606207	solute carrier family 28 (sodium-coupled nucleoside transporter), member 1		NA	9124315	Standard		NM_004213	NA	Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1544C>T	15.37:g.85478712C>T	ENSP00000286749:p.Ala515Val	NA	A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	37	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	C	0.434	-0.902119	0.02453	.	.	ENSG00000156222	ENST00000537216;ENST00000537624;ENST00000286749;ENST00000394573	T;T;T;T	0.01933	4.55;4.66;4.69;4.69	5.19	-7.83	0.01201	Na dependent nucleoside transporter, C-terminal (1);	1.306430	0.04674	N	0.411195	T	0.01189	0.0039	N	0.02275	-0.615	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.002	T	0.47749	-0.9093	10	0.15952	T	0.53	-16.176	15.5491	0.76133	0.0:0.3386:0.0:0.6614	.	515;515;515	B7Z533;F5H560;O00337	.;.;S28A1_HUMAN	V	515	ENSP00000440546:A515V;ENSP00000444700:A515V;ENSP00000286749:A515V;ENSP00000378074:A515V	ENSP00000286749:A515V	A	+	2	0	SLC28A1	83279716	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.457000	0.06745	-1.555000	0.01697	-1.360000	0.01215	GCC	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000308998.2		+	ENST00000286749.3	Missense_Mutation	SNP	15 : 85478712 - 85478712 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	888	36
RASD1	51655	broad.mit.edu	37	17	17399311	17399311	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17399311C>T	ENST00000579152.1	-	1	398	c.185G>A	c.(184-186)cGc>cAc	p.R62H	RASD1_ENST00000225688.3_Missense_Mutation_p.R62H			Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	62					G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						GTAGAACTTGCGGTGGAAGTC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	120	127			NA	NA	17		NA											NA				17399311		2203	4300	6503	SO:0001583	missense			AF069506	CCDS11185.1, CCDS58519.1	17p11.2	2014-05-09			ENSG00000108551	ENSG00000108551	51655	51655			15828	protein-coding gene	gene with protein product	ras-related protein, dexamethasone-induced ras-related protein 1, activator of G protein signaling	605550			NA	10947988	Standard	NM_016084	NM_001199989	NA	Approved	DEXRAS1, AGS1	uc002gri.3	Q9Y272	OTTHUMG00000059292	ENST00000579152.1:c.185G>A	17.37:g.17399311C>T	ENSP00000463388:p.Arg62His	NA	B2R709|Q9NYB4	37	CCDS58519.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598634	0.66332	.	.	ENSG00000108551	ENST00000225688	T	0.80033	-1.33	4.81	4.81	0.61882	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89884	0.6844	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90983	0.4829	10	0.56958	D	0.05	.	16.8723	0.86043	0.0:1.0:0.0:0.0	.	62	Q9Y272	RASD1_HUMAN	H	62	ENSP00000225688:R62H	ENSP00000225688:R62H	R	-	2	0	RASD1	17340036	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.539000	0.82063	2.199000	0.70637	0.655000	0.94253	CGC	RASD1-002	NOVEL	NMD_likely_if_extended|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442879.2		-	ENST00000579152.1	Missense_Mutation	SNP	17 : 17399311 - 17399311 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	422	18
PC	5091	broad.mit.edu	37	11	66619997	66619997	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66619997T>C	ENST00000393958.2	-	14	1831	c.1738A>G	c.(1738-1740)Act>Gct	p.T580A	PC_ENST00000393955.2_Missense_Mutation_p.T580A|PC_ENST00000393960.1_Missense_Mutation_p.T580A	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	580	Carboxyltransferase.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CGCACACGAGTGGCCAGCAGT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	68	69			NA	NA	11		NA											NA				66619997		2200	4295	6495	SO:0001583	missense			U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	5091	5091	6.4.1.1		8636	protein-coding gene	gene with protein product		608786			NA	6548474	Standard	NM_001040716	NM_022172	NA	Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.1738A>G	11.37:g.66619997T>C	ENSP00000377530:p.Thr580Ala	NA	Q16705	37	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	T	19.43	3.826191	0.71143	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960	D;D;D	0.98280	-4.84;-4.84;-4.84	5.53	5.53	0.82687	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.103647	0.64402	D	0.000003	D	0.99327	0.9764	H	0.97491	4.015	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.98662	1.0684	10	0.87932	D	0	-19.6207	13.6436	0.62267	0.0:0.0:0.0:1.0	.	580	P11498	PYC_HUMAN	A	580	ENSP00000377527:T580A;ENSP00000377530:T580A;ENSP00000377532:T580A	ENSP00000377527:T580A	T	-	1	0	PC	66376573	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	4.664000	0.61540	2.107000	0.64212	0.533000	0.62120	ACT	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393115.1		-	ENST00000393958.2	Missense_Mutation	SNP	11 : 66619997 - 66619997 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	520	105
LAMTOR5	10542	broad.mit.edu	37	1	110946568	110946568	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110946568G>T	ENST00000474861.2	-	3	791	c.185C>A	c.(184-186)cCt>cAt	p.P62H	LAMTOR5_ENST00000602318.1_Missense_Mutation_p.P63H|LAMTOR5_ENST00000256644.4_Missense_Mutation_p.P145H|LAMTOR5_ENST00000602858.1_Missense_Mutation_p.P51H|LAMTOR5_ENST00000483260.1_Missense_Mutation_p.P62H|LAMTOR5-AS1_ENST00000590413.1_RNA					late endosomal/lysosomal adaptor, MAPK and MTOR activator 5	NA											NA						ACACACCACAGGAATATCAGT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	110	113			NA	NA	1		NA											NA				110946568		2203	4300	6503	SO:0001583	missense			AF029890	CCDS824.1	1p12	2012-09-24	2012-09-24	2012-09-24	ENSG00000134248	ENSG00000134248	10542	10542			17955	protein-coding gene	gene with protein product	HBx-interacting protein, hepatitis B virus x-interacting protein (9.6kD)	608521	hepatitis B virus x interacting protein	HBXIP	NA	9499022, 22980980	Standard	NM_006402	NM_006402	NA	Approved	XIP, MGC71071	uc001dzr.3	O43504	OTTHUMG00000011568	ENST00000474861.2:c.185C>A	1.37:g.110946568G>T	ENSP00000434828:p.Pro62His	NA		37		.	.	.	.	.	.	.	.	.	.	G	26.8	4.775065	0.90108	.	.	ENSG00000134248	ENST00000483260;ENST00000474861;ENST00000256644	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.76047	0.3933	.	.	.	0.80722	D	1	D	0.63880	0.993	P	0.62740	0.906	T	0.77264	-0.2652	8	0.87932	D	0	-19.2524	19.3531	0.94398	0.0:0.0:1.0:0.0	.	63	O43504	HBXIP_HUMAN	H	62;62;145	.	ENSP00000256644:P145H	P	-	2	0	HBXIP	110748091	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	8.482000	0.90439	2.941000	0.99782	0.655000	0.94253	CCT	LAMTOR5-003	PUTATIVE	alternative_5_UTR|basic	protein_coding	NA	protein_coding	OTTHUMT00000031968.2		-	ENST00000474861.2	Missense_Mutation	SNP	1 : 110946568 - 110946568 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	611	117
PCDHB4	56131	broad.mit.edu	37	5	140503186	140503186	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140503186G>A	ENST00000194152.1	+	1	1606	c.1606G>A	c.(1606-1608)Ggt>Agt	p.G536S		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	536	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCAGACCGCGGTTCTCCGGC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	58	56			NA	NA	5		NA											NA				140503186		2203	4297	6500	SO:0001583	missense			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818	56131	56131		Cadherins / Protocadherins : Clustered	8689	other	protocadherin		606330			NA	10380929	Standard	NM_018938	NM_018938	NA	Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1606G>A	5.37:g.140503186G>A	ENSP00000194152:p.Gly536Ser	NA	Q4V761	37	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372354	0.82573	.	.	ENSG00000081818	ENST00000194152	T	0.01647	4.71	3.88	3.88	0.44766	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.16727	0.0402	H	0.95816	3.725	0.58432	D	0.999991	D	0.89917	1.0	D	0.87578	0.998	T	0.19516	-1.0303	9	0.87932	D	0	.	16.0646	0.80863	0.0:0.0:1.0:0.0	.	536	Q9Y5E5	PCDB4_HUMAN	S	536	ENSP00000194152:G536S	ENSP00000194152:G536S	G	+	1	0	PCDHB4	140483370	1.000000	0.71417	0.171000	0.22900	0.664000	0.39144	9.415000	0.97375	2.189000	0.69895	0.485000	0.47835	GGT	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251812.2		+	ENST00000194152.1	Missense_Mutation	SNP	5 : 140503186 - 140503186 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	727	134
PTCHD2	57540	broad.mit.edu	37	1	11561540	11561540	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11561540G>A	ENST00000294484.6	+	2	629	c.491G>A	c.(490-492)cGc>cAc	p.R164H	PTCHD2_ENST00000389575.3_Missense_Mutation_p.R164H	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	164					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CTCGGCAACCGCTCGCGGCAA	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	16	15			NA	NA	1		NA											NA				11561540		1911	4090	6001	SO:0001583	missense			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624	57540	57540			29251	protein-coding gene	gene with protein product		611251			NA	15738394	Standard	XM_052561	NM_020780	NA	Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.491G>A	1.37:g.11561540G>A	ENSP00000294484:p.Arg164His	NA	Q5VTU9|Q9UJD6	37	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	G	8.303	0.820313	0.16678	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.23348	1.91;1.91	5.52	1.32	0.21799	.	0.823009	0.11554	N	0.552444	T	0.10852	0.0265	N	0.08118	0	0.23487	N	0.997573	B	0.06786	0.001	B	0.04013	0.001	T	0.35871	-0.9771	10	0.19590	T	0.45	-18.9983	5.3673	0.16121	0.243:0.2562:0.5008:0.0	.	164	Q9P2K9	PTHD2_HUMAN	H	164	ENSP00000294484:R164H;ENSP00000374226:R164H	ENSP00000294484:R164H	R	+	2	0	PTCHD2	11484127	0.979000	0.34478	0.985000	0.45067	0.372000	0.29890	0.086000	0.14935	0.292000	0.22492	-0.266000	0.10368	CGC	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005770.2		+	ENST00000294484.6	Missense_Mutation	SNP	1 : 11561540 - 11561540 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	158	30
MUC16	94025	broad.mit.edu	37	19	9070734	9070734	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9070734G>A	ENST00000397910.4	-	3	16915	c.16712C>T	c.(16711-16713)aCt>aTt	p.T5571I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5573	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						AGCCCCAGGAGTAGTTGTTTG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													246	228	234			NA	NA	19		NA											NA				9070734		2035	4178	6213	SO:0001583	missense			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.16712C>T	19.37:g.9070734G>A	ENSP00000381008:p.Thr5571Ile	NA	Q6ZQW5|Q96RK2	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	1.656	-0.512783	0.04200	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	1.4	-0.935	0.10423	.	.	.	.	.	T	0.01592	0.0051	N	0.08118	0	.	.	.	B	0.09022	0.002	B	0.01281	0.0	T	0.42749	-0.9433	8	0.87932	D	0	.	4.1256	0.10126	0.4334:0.0:0.5666:0.0	.	5571	B5ME49	.	I	5571	ENSP00000381008:T5571I	ENSP00000381008:T5571I	T	-	2	0	MUC16	8931734	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.341000	0.07811	-0.205000	0.10219	-0.703000	0.03666	ACT	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Missense_Mutation	SNP	19 : 9070734 - 9070734 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1111	198
OR4K14	122740	broad.mit.edu	37	14	20483064	20483064	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20483064C>A	ENST00000305045.2	-	1	288	c.289G>T	c.(289-291)Gga>Tga	p.G97*		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GCCATACATCCTCCAAAGGAG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	98	100			NA	NA	14		NA											NA				20483064		2203	4300	6503	SO:0001587	stop_gained				CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484	122740	122740		GPCR / Class A : Olfactory receptors	15352	protein-coding gene	gene with protein product					NA		Standard		NM_001004712	NA	Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.289G>T	14.37:g.20483064C>A	ENSP00000305011:p.Gly97*	NA	Q6IEU1|Q96R71	37	CCDS32027.1	.	.	.	.	.	.	.	.	.	.	.	23.4	4.412246	0.83340	.	.	ENSG00000169484	ENST00000305045	.	.	.	4.04	4.04	0.47022	.	0.000000	0.43747	D	0.000522	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.1214	0.72447	0.0:1.0:0.0:0.0	.	.	.	.	X	97	.	ENSP00000305011:G97X	G	-	1	0	OR4K14	19552904	0.007000	0.16637	1.000000	0.80357	0.915000	0.54546	2.340000	0.43974	2.086000	0.62901	0.505000	0.49811	GGA	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410343.1		-	ENST00000305045.2	Nonsense_Mutation	SNP	14 : 20483064 - 20483064 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	295	50
MRPL38	64978	broad.mit.edu	37	17	73897891	73897891	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73897891C>T	ENST00000309352.3	-	4	1030	c.493G>A	c.(493-495)Gcc>Acc	p.A165T	MRPL38_ENST00000409963.3_5'UTR|MRPL38_ENST00000585475.1_5'UTR	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	165						actin cytoskeleton|mitochondrion|ribosome				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACAAAGGTGGCACCGTGGAAC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	60	67			NA	NA	17		NA											NA				73897891		2203	4300	6503	SO:0001583	missense			AB051345	CCDS11733.2	17q23-q25	2012-09-13			ENSG00000204316	ENSG00000204316	64978	64978		Mitochondrial ribosomal proteins / large subunits	14033	protein-coding gene	gene with protein product		611844			NA	11543634	Standard	NM_032478	NM_032478	NA	Approved	RPML3, MRP-L3, HSPC262, MGC4810	uc010wso.1	Q96DV4	OTTHUMG00000152977	ENST00000309352.3:c.493G>A	17.37:g.73897891C>T	ENSP00000308275:p.Ala165Thr	NA	Q96Q66|Q9P0B9	37	CCDS11733.2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331508	0.81690	.	.	ENSG00000204316	ENST00000309352	T	0.23552	1.9	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.57446	0.2054	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63143	-0.6703	10	0.87932	D	0	0.849	19.23	0.93834	0.0:1.0:0.0:0.0	.	165	Q96DV4	RM38_HUMAN	T	165	ENSP00000308275:A165T	ENSP00000308275:A165T	A	-	1	0	MRPL38	71409486	1.000000	0.71417	0.982000	0.44146	0.117000	0.20001	7.349000	0.79376	2.544000	0.85801	0.650000	0.86243	GCC	MRPL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328829.1		-	ENST00000309352.3	Missense_Mutation	SNP	17 : 73897891 - 73897891 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	212	39
NPR2	4882	broad.mit.edu	37	9	35805906	35805906	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35805906C>A	ENST00000342694.2	+	14	2382	c.2127C>A	c.(2125-2127)agC>agA	p.S709R		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	709	Protein kinase.				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ACGTCTATAGCTTTGGGATCA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	88	88			NA	NA	9		NA											NA				35805906		2203	4300	6503	SO:0001583	missense			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899	4882	4882			7944	protein-coding gene	gene with protein product	guanylate cyclase B	108961	acromesomelic dysplasia, Maroteaux type, atrionatriuretic peptide receptor B, natriuretic peptide receptor B	ANPRB, NPRB, AMDM	NA	9634515, 15146390	Standard		XM_005251478	NA	Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.2127C>A	9.37:g.35805906C>A	ENSP00000341083:p.Ser709Arg	NA	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	37	CCDS6590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.38|15.38	2.816902|2.816902	0.50633|0.50633	.|.	.|.	ENSG00000159899|ENSG00000159899	ENST00000421267|ENST00000342694	.|T	.|0.78364	.|-1.17	5.82|5.82	2.0|2.0	0.26442|0.26442	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.52532	.|D	.|0.000072	D|D	0.92430|0.92430	0.7597|0.7597	H|H	0.99634|0.99634	4.67|4.67	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.997;0.999	D|D	0.91015|0.91015	0.4853|0.4853	5|10	.|0.72032	.|D	.|0.01	.|.	9.6933|9.6933	0.40143|0.40143	0.0:0.7216:0.0:0.2784|0.0:0.7216:0.0:0.2784	.|.	.|709;709	.|P20594-2;P20594	.|.;ANPRB_HUMAN	D|R	56|709	.|ENSP00000341083:S709R	.|ENSP00000341083:S709R	A|S	+|+	2|3	0|2	NPR2|NPR2	35795906|35795906	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.989000|0.989000	0.77384|0.77384	2.596000|2.596000	0.46205|0.46205	0.113000|0.113000	0.18004|0.18004	-0.251000|-0.251000	0.11542|0.11542	GCT|AGC	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052345.1		+	ENST00000342694.2	Missense_Mutation	SNP	9 : 35805906 - 35805906 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	478	79
WDR77	79084	broad.mit.edu	37	1	111984012	111984012	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111984012C>T	ENST00000235090.5	-	10	1076		c.e10-1		WDR77_ENST00000497278.1_Splice_Site|WDR77_ENST00000411751.2_Splice_Site	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	NA					ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCTTCTAAACCTAGAAGAAAG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	54	53			NA	NA	1		NA											NA				111984012		2203	4300	6503	SO:0001630	splice_region_variant			BC016946	CCDS835.1	1p13.2	2013-01-09		2005-08-09	ENSG00000116455	ENSG00000116455	79084	79084		WD repeat domain containing	29652	protein-coding gene	gene with protein product		611734			NA	11756452, 8619474	Standard	NM_024102	NM_024102	NA	Approved	MEP50	uc001ebb.3	Q9BQA1	OTTHUMG00000011748	ENST00000235090.5:c.870-1G>A	1.37:g.111984012C>T		NA	B3KMW6|Q3LID2|Q53FU2|Q6JZZ5|Q96GK4|Q9BWY3	37	CCDS835.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022708	0.75275	.	.	ENSG00000116455	ENST00000235090;ENST00000411751;ENST00000449340	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9003	0.96983	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDR77	111785535	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.441000	0.73439	2.808000	0.96608	0.655000	0.94253	.	WDR77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032465.1	Intron	-	ENST00000235090.5	Splice_Site	SNP	1 : 111984012 - 111984012 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	60
KDM4A	9682	broad.mit.edu	37	1	44163605	44163605	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44163605G>T	ENST00000372396.3	+	19	2896	c.2762G>T	c.(2761-2763)aGg>aTg	p.R921M		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	921	Tudor 1.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GAAGTGGTCAGGCTCACCACC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	117	119			NA	NA	1		NA											NA				44163605		2203	4300	6503	SO:0001583	missense			AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135	9682	9682		Chromatin-modifying enzymes / K-demethylases, Tudor domain containing	22978	protein-coding gene	gene with protein product	jumonji C domain-containing histone demethylase 3A, tudor domain containing 14A	609764	jumonji domain containing 2, jumonji domain containing 2A	JMJD2, JMJD2A	NA	9734811, 15138608	Standard	NM_014663	XM_005271354	NA	Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.2762G>T	1.37:g.44163605G>T	ENSP00000361473:p.Arg921Met	NA	Q5VVB1	37	CCDS491.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855743	0.51376	.	.	ENSG00000066135	ENST00000372396	T	0.71698	-0.59	6.08	1.2	0.21068	Tudor domain (1);	0.358324	0.35772	N	0.002996	T	0.52289	0.1725	N	0.22421	0.69	0.28794	N	0.899132	P	0.35600	0.511	B	0.34824	0.19	T	0.51196	-0.8736	10	0.56958	D	0.05	-12.0289	8.7145	0.34403	0.1434:0.412:0.4446:0.0	.	921	O75164	KDM4A_HUMAN	M	921	ENSP00000361473:R921M	ENSP00000361473:R921M	R	+	2	0	KDM4A	43936192	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	2.566000	0.45948	0.334000	0.23590	0.655000	0.94253	AGG	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019960.1		+	ENST00000372396.3	Missense_Mutation	SNP	1 : 44163605 - 44163605 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	408	44
ZEB2	9839	broad.mit.edu	37	2	145187540	145187540	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:145187540T>C	ENST00000558170.2	-	3	1311	c.127A>G	c.(127-129)Aag>Gag	p.K43E	ZEB2_ENST00000303660.4_Missense_Mutation_p.K43E|ZEB2_ENST00000409487.3_Missense_Mutation_p.K43E|ZEB2_ENST00000539609.3_Missense_Mutation_p.K43E	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	43						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATATGAAGCTTGTCTTCCTCA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(33;1235 1264 5755 16332)							NA				0													132	101	111			NA	NA	2		NA											NA				145187540		2203	4300	6503	SO:0001583	missense			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554	9839	9839		Zinc fingers, C2H2-type, Homeoboxes / ZF class	14881	protein-coding gene	gene with protein product	SMAD interacting protein 1	605802	zinc finger homeobox 1b	ZFHX1B	NA		Standard	NM_014795	NM_014795	NA	Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.127A>G	2.37:g.145187540T>C	ENSP00000454157:p.Lys43Glu	NA	A0JP09|Q9UED1	37	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.766447	0.69878	.	.	ENSG00000169554	ENST00000392860;ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861;ENST00000409211;ENST00000435831;ENST00000444559	D;D;D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	5.9	5.9	0.94986	.	0.047892	0.85682	D	0.000000	D	0.92512	0.7622	M	0.70595	2.14	0.58432	D	0.999999	P;P;D;B;B	0.67145	0.804;0.622;0.996;0.39;0.39	B;B;P;B;B	0.55923	0.213;0.152;0.787;0.074;0.074	D	0.93282	0.6661	10	0.87932	D	0	-15.9296	16.3291	0.83001	0.0:0.0:0.0:1.0	.	43;43;43;43;43	F5H814;B7Z2P2;E7ESP8;A0JP08;O60315	.;.;.;.;ZEB2_HUMAN	E	38;43;43;43;43;43;43;43;43	ENSP00000443792:K43E;ENSP00000302501:K43E;ENSP00000386854:K43E;ENSP00000395496:K43E;ENSP00000376601:K43E;ENSP00000387256:K43E;ENSP00000400993:K43E;ENSP00000399451:K43E	ENSP00000302501:K43E	K	-	1	0	ZEB2	144904010	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.586000	0.82596	2.257000	0.74773	0.528000	0.53228	AAG	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254778.5		-	ENST00000558170.2	Missense_Mutation	SNP	2 : 145187540 - 145187540 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	376	106
PHKG1	5260	broad.mit.edu	37	7	56151035	56151035	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56151035G>A	ENST00000297373.2	-	6	677	c.483C>T	c.(481-483)aaC>aaT	p.N161N	PHKG1_ENST00000452681.2_Silent_p.N193N|PHKG1_ENST00000537360.1_Silent_p.N107N	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	161	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGATGTTCATGTTGTCATCCA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(184;580 2064 5329 24177 35303)							NA				0													100	93	95			NA	NA	7		NA											NA				56151035		2203	4300	6503	SO:0001819	synonymous_variant			X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	5260	5260	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG	NA	8530014	Standard	NM_006213	NM_001258459	NA	Approved		uc011kdb.2	Q16816	OTTHUMG00000023869	ENST00000297373.2:c.483C>T	7.37:g.56151035G>A		NA	Q75LP5	37	CCDS5525.1																																																																																			PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251587.1		-	ENST00000297373.2	Silent	SNP	7 : 56151035 - 56151035 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	275	42
CHST14	113189	broad.mit.edu	37	15	40764185	40764185	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40764185T>C	ENST00000306243.5	+	1	1026	c.773T>C	c.(772-774)gTc>gCc	p.V258A	CHST14_ENST00000559991.1_Missense_Mutation_p.V233A	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	258					carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		GGCGACGATGTCACATTCCCC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	117	114			NA	NA	15		NA											NA				40764185		2203	4300	6503	SO:0001583	missense			AF401222	CCDS10059.1	15q15.1	2014-09-17	2007-03-27	2007-03-27	ENSG00000169105	ENSG00000169105	113189	113189		Sulfotransferases, membrane-bound	24464	protein-coding gene	gene with protein product		608429	dermatan 4 sulfotransferase 1	D4ST1	NA	11470797	Standard	NM_130468	NM_130468	NA	Approved	HD4ST, D4ST-1	uc001zlw.3	Q8NCH0	OTTHUMG00000129985	ENST00000306243.5:c.773T>C	15.37:g.40764185T>C	ENSP00000307297:p.Val258Ala	NA	Q6PJ31|Q6UXA0|Q96P94	37	CCDS10059.1	.	.	.	.	.	.	.	.	.	.	T	19.09	3.759780	0.69763	.	.	ENSG00000169105	ENST00000306243	T	0.75821	-0.97	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000002	T	0.70228	0.3200	M	0.67625	2.065	0.80722	D	1	P	0.39094	0.659	B	0.38921	0.285	T	0.70967	-0.4728	10	0.40728	T	0.16	-34.1455	8.9559	0.35818	0.0:0.0869:0.0:0.9131	.	258	Q8NCH0	CHSTE_HUMAN	A	258	ENSP00000307297:V258A	ENSP00000307297:V258A	V	+	2	0	CHST14	38551477	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.135000	0.71696	2.109000	0.64355	0.533000	0.62120	GTC	CHST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252251.1		+	ENST00000306243.5	Missense_Mutation	SNP	15 : 40764185 - 40764185 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1071	216
C14orf37	145407	broad.mit.edu	37	14	58605812	58605812	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58605812C>A	ENST00000267485.7	-	2	459	c.265G>T	c.(265-267)Gca>Tca	p.A89S	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	89						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						ATCGAGAATGCTTTATTTAAT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	139	139			NA	NA	14		NA											NA				58605812		2203	4300	6503	SO:0001583	missense				CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971	145407	145407			19846	protein-coding gene	gene with protein product					NA		Standard	NM_001001872	NM_001001872	NA	Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.265G>T	14.37:g.58605812C>A	ENSP00000267485:p.Ala89Ser	NA	A8K8Z8|Q6P5Q1|Q86TY1	37	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341151	0.41498	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.32515	1.45	5.82	3.98	0.46160	.	0.702903	0.13150	N	0.409977	T	0.21227	0.0511	L	0.34521	1.04	0.09310	N	1	B;P;B;B	0.41848	0.435;0.763;0.435;0.435	B;B;B;B	0.36608	0.124;0.229;0.124;0.124	T	0.05550	-1.0878	10	0.21540	T	0.41	-0.5202	10.1614	0.42853	0.0:0.8479:0.0:0.1521	.	127;89;89;89	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	S	89;127	ENSP00000267485:A89S	ENSP00000267485:A89S	A	-	1	0	C14orf37	57675565	0.000000	0.05858	0.003000	0.11579	0.013000	0.08279	0.728000	0.26013	0.784000	0.33661	0.655000	0.94253	GCA	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412059.1		-	ENST00000267485.7	Missense_Mutation	SNP	14 : 58605812 - 58605812 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	520	21
LIPG	9388	broad.mit.edu	37	18	47101920	47101920	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47101920C>T	ENST00000427224.2	+	5	820				LIPG_ENST00000580036.1_Silent_p.G251G|LIPG_ENST00000577628.1_Silent_p.G287G|LIPG_ENST00000261292.4_Silent_p.G251G			Q9Y5X9	LIPE_HUMAN	lipase, endothelial	NA					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						TCCAGCCAGGCTGTGGACTCA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(126;280 1778 12814 26243 34948)							NA				0													85	69	75			NA	NA	18		NA											NA				47101920		2203	4300	6503	SO:0001627	intron_variant			AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670	9388	9388			6623	protein-coding gene	gene with protein product		603684			NA	10318835, 10192396	Standard	NM_006033	XM_005258390	NA	Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000427224.2:c.572-5865C>T	18.37:g.47101920C>T		NA	B0LPG6|Q6P9C8|Q6UW82	37																																																																																				LIPG-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000447547.1		+	ENST00000427224.2	Intron	SNP	18 : 47101920 - 47101920 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	186	42
DNMT3L	29947	broad.mit.edu	37	21	45666402	45666402	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45666402C>T	ENST00000270172.3	-	12	1525	c.1042G>A	c.(1042-1044)Gcc>Acc	p.A348T	DNMT3L_ENST00000418993.1_Missense_Mutation_p.A347T	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	347					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		TTGTTCTGGGCCAGCAGGGAC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	41	41			NA	NA	21		NA											NA				45666402		2203	4299	6502	SO:0001583	missense			AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182	29947	29947			2980	protein-coding gene	gene with protein product	cytosine-5-methyltransferase 3-like protein, human cytosine-5-methyltransferase 3-like protein	606588			NA	10857753	Standard	NM_013369	NM_013369	NA	Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000270172.3:c.1042G>A	21.37:g.45666402C>T	ENSP00000270172:p.Ala348Thr	NA	E9PB42|Q9BUJ4	37	CCDS13705.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.979|8.979	0.974906|0.974906	0.18736|0.18736	.|.	.|.	ENSG00000142182|ENSG00000142182	ENST00000270172;ENST00000418993|ENST00000436357	T;T|.	0.30714|.	1.52;1.52|.	4.17|4.17	2.25|2.25	0.28309|0.28309	.|.	0.630018|.	0.15606|.	N|.	0.253672|.	T|.	0.36303|.	0.0962|.	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B;B|.	0.22683|.	0.073;0.073|.	B;B|.	0.15870|.	0.014;0.014|.	T|.	0.22312|.	-1.0220|.	10|.	0.08837|.	T|.	0.75|.	-1.1886|-1.1886	10.0246|10.0246	0.42063|0.42063	0.0:0.8047:0.0:0.1953|0.0:0.8047:0.0:0.1953	.|.	348;347|.	Q9UJW3-2;Q9UJW3|.	.;DNM3L_HUMAN|.	T|X	348;347|141	ENSP00000270172:A348T;ENSP00000412862:A347T|.	ENSP00000270172:A348T|.	A|W	-|-	1|3	0|0	DNMT3L|DNMT3L	44490830|44490830	0.054000|0.054000	0.20591|0.20591	0.007000|0.007000	0.13788|0.13788	0.172000|0.172000	0.22775|0.22775	0.008000|0.008000	0.13197|0.13197	0.018000|0.018000	0.15052|0.15052	-0.797000|-0.797000	0.03246|0.03246	GCC|TGG	DNMT3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195820.1		-	ENST00000270172.3	Missense_Mutation	SNP	21 : 45666402 - 45666402 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	49
SDC1	6382	broad.mit.edu	37	2	20405117	20405117	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:20405117G>A	ENST00000254351.4	-	2	379	c.135C>T	c.(133-135)tcC>tcT	p.S45S	SDC1_ENST00000482879.1_5'UTR|SDC1_ENST00000403076.1_Silent_p.S45S|SDC1_ENST00000381150.1_Silent_p.S45S	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	45					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CACCTGAGCCGGAGAAGTTGT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	91	90			NA	NA	2		NA											NA				20405117		2203	4300	6503	SO:0001819	synonymous_variant			AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884	6382	6382		CD molecules, Proteoglycans / Cell Surface : Syndecans	10658	protein-coding gene	gene with protein product	syndecan proteoglycan 1	186355		SDC	NA		Standard	NM_001006946	XM_005262621	NA	Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.135C>T	2.37:g.20405117G>A		NA	D6W523|Q53QV0|Q546D3|Q96HB7	37	CCDS1697.1																																																																																			SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207495.1		-	ENST00000254351.4	Silent	SNP	2 : 20405117 - 20405117 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	870	80
MAP2K6	5608	broad.mit.edu	37	17	67513640	67513640	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67513640G>A	ENST00000590474.1	+	4	419		c.e4-1		MAP2K6_ENST00000589647.1_Splice_Site	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	NA					activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|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	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					CTCTCTTGCAGAACTTTGAGG	0.473		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				67513640		2203	4300	6503	SO:0001630	splice_region_variant			U39064	CCDS11686.1	17q	2011-06-09					5608	5608		Mitogen-activated protein kinase cascade / Kinase kinases	6846	protein-coding gene	gene with protein product	protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)	601254		PRKMK6	NA	8621675	Standard	NM_002758	XM_005257515	NA	Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.133-1G>A	17.37:g.67513640G>A		NA		37	CCDS11686.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520818	0.85495	.	.	ENSG00000108984	ENST00000359094	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8901	0.88869	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAP2K6	65025235	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.715000	0.98748	2.634000	0.89283	0.585000	0.79938	.	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450689.1	Intron	+	ENST00000590474.1	Splice_Site	SNP	17 : 67513640 - 67513640 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	165	26
KRTAP10-4	386672	broad.mit.edu	37	21	45993726	45993726	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45993726G>A	ENST00000400374.3	+	1	121	c.91G>A	c.(91-93)Gac>Aac	p.D31N	TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	31						keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						GCAGGTGGACGACTGCCCAGA	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	66	64			NA	NA	21		NA											NA				45993726		2080	4194	6274	SO:0001583	missense			AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454	386672	386672		Keratin associated proteins	20521	protein-coding gene	gene with protein product			keratin associated protein 18-4	KRTAP18-4	NA		Standard	NM_198687	NM_198687	NA	Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.91G>A	21.37:g.45993726G>A	ENSP00000383225:p.Asp31Asn	NA	Q08AS0	37	CCDS42957.1	.	.	.	.	.	.	.	.	.	.	N	10.33	1.319150	0.23994	.	.	ENSG00000215454	ENST00000400374;ENST00000334871	T	0.14893	2.47	4.69	0.487	0.16842	.	.	.	.	.	T	0.11239	0.0274	L	0.54323	1.7	0.22468	N	0.999077	P	0.42827	0.791	B	0.36666	0.23	T	0.20140	-1.0284	9	0.11182	T	0.66	.	3.5654	0.07897	0.2943:0.0:0.5321:0.1736	.	31	P60372	KR104_HUMAN	N	31;20	ENSP00000383225:D31N	ENSP00000333987:D20N	D	+	1	0	KRTAP10-4	44818154	0.723000	0.28027	0.976000	0.42696	0.133000	0.20885	0.164000	0.16542	0.164000	0.19529	-0.336000	0.08194	GAC	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128045.1		+	ENST00000400374.3	Missense_Mutation	SNP	21 : 45993726 - 45993726 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	282	72
CKAP5	9793	broad.mit.edu	37	11	46784532	46784532	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46784532G>A	ENST00000529230.1	-	30	3931	c.3885C>T	c.(3883-3885)gtC>gtT	p.V1295V	CKAP5_ENST00000354558.3_Silent_p.V1295V|CKAP5_ENST00000312055.5_Silent_p.V1295V|CKAP5_ENST00000415402.1_Silent_p.V1295V			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1295					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TTACCTTGACGACAAGATAGG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(4;85 273 2202 4844 13323)							NA				0													111	102	105			NA	NA	11		NA											NA				46784532		2201	4299	6500	SO:0001819	synonymous_variant				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216	9793	9793			28959	protein-coding gene	gene with protein product		611142			NA	7788527, 8536682	Standard	NM_014756	NM_014756	NA	Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.3885C>T	11.37:g.46784532G>A		NA	Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	37	CCDS31477.1																																																																																			CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390679.1		-	ENST00000529230.1	Silent	SNP	11 : 46784532 - 46784532 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	380	12
FANCA	2175	broad.mit.edu	37	16	89815125	89815125	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89815125G>A	ENST00000389301.3	-	33	3320	c.3290C>T	c.(3289-3291)gCa>gTa	p.A1097V	FANCA_ENST00000568369.1_Missense_Mutation_p.A1097V	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1097					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GGGCTGTTCTGCCTGGAAGCT	0.592		NA	D, Mis, N, F, S			AML, leukemia		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Fanconi anaemia A	16	16q24.3	2175	Fanconi anemia, complementation group A		L	0													95	66	76			NA	NA	16		NA											NA				89815125		2198	4300	6498	SO:0001583	missense	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741	2175	2175		Fanconi anemia, complementation groups	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH	NA	7581462, 9382107	Standard		NM_001286167	NA	Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.3290C>T	16.37:g.89815125G>A	ENSP00000373952:p.Ala1097Val	NA	A5D923|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	37	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.976831	0.34848	.	.	ENSG00000187741	ENST00000389301;ENST00000305699	D	0.84730	-1.89	4.32	-5.26	0.02772	.	0.733388	0.12716	N	0.445132	T	0.69441	0.3111	L	0.36672	1.1	0.09310	N	1	B;B;B	0.17465	0.022;0.006;0.006	B;B;B	0.12837	0.008;0.005;0.005	T	0.56050	-0.8043	10	0.51188	T	0.08	0.0037	0.58	0.00710	0.2516:0.1259:0.2383:0.3842	.	74;1097;1097	B7Z6Y4;B4DRI7;O15360	.;.;FANCA_HUMAN	V	1097;74	ENSP00000373952:A1097V	ENSP00000306281:A74V	A	-	2	0	FANCA	88342626	0.000000	0.05858	0.000000	0.03702	0.159000	0.22180	-1.040000	0.03546	-0.628000	0.05582	0.462000	0.41574	GCA	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421927.1		-	ENST00000389301.3	Missense_Mutation	SNP	16 : 89815125 - 89815125 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	254	56
KLHL1	57626	broad.mit.edu	37	13	70413134	70413134	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:70413134G>T	ENST00000377844.4	-	6	2147	c.1388C>A	c.(1387-1389)gCt>gAt	p.A463D	KLHL1_ENST00000545028.1_Missense_Mutation_p.A270D	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	463					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TCCTCCTACAGCATACAAAGT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	112	114			NA	NA	13		NA											NA				70413134		2201	4299	6500	SO:0001583	missense			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361	57626	57626		Kelch-like, BTB/POZ domain containing	6352	protein-coding gene	gene with protein product	Kelch-like protein 1, Mayven-related protein 2	605332	kelch (Drosophila)-like 1, kelch-like 1 (Drosophila)		NA	10888605	Standard	NM_020866	NM_020866	NA	Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1388C>A	13.37:g.70413134G>T	ENSP00000367075:p.Ala463Asp	NA	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	37	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.859769	0.91433	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.80214	-1.35;-1.35	5.14	5.14	0.70334	Galactose oxidase, beta-propeller (1);	0.199083	0.35096	N	0.003456	D	0.93719	0.7993	H	0.97340	3.985	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.995;0.995	D	0.95790	0.8824	10	0.87932	D	0	.	18.9658	0.92695	0.0:0.0:1.0:0.0	.	463;463	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	D	463;270	ENSP00000367075:A463D;ENSP00000439602:A270D	ENSP00000367075:A463D	A	-	2	0	KLHL1	69311135	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.752000	0.98900	2.565000	0.86533	0.591000	0.81541	GCT	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045231.3		-	ENST00000377844.4	Missense_Mutation	SNP	13 : 70413134 - 70413134 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	190	26
NELFA	7469	broad.mit.edu	37	4	1985098	1985098	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1985098G>A	ENST00000382882.3	-	11	2685	c.1568C>T	c.(1567-1569)aCg>aTg	p.T523M	NELFA_ENST00000542778.1_Missense_Mutation_p.T377M|NELFA_ENST00000411638.2_Missense_Mutation_p.T512M					negative elongation factor complex member A	NA											NA						CCACTGGCCCGTGGCATAGTT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													197	168	178			NA	NA	4		NA											NA				1985098		2203	4300	6503	SO:0001583	missense			AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049	7469	7469			12768	protein-coding gene	gene with protein product		606026	Wolf-Hirschhorn syndrome candidate 2	WHSC2	NA	10409432	Standard	NM_005663	NM_005663	NA	Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000382882.3:c.1568C>T	4.37:g.1985098G>A	ENSP00000372335:p.Thr523Met	NA		37	CCDS3358.2	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923042	0.92319	.	.	ENSG00000185049	ENST00000382882;ENST00000416258;ENST00000542778;ENST00000411638	T;T;T;T	0.61627	0.15;0.09;0.2;0.17	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.77219	0.4098	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.79978	-0.1575	10	0.87932	D	0	-18.9401	18.8462	0.92208	0.0:0.0:1.0:0.0	.	512	Q9H3P2	NELFA_HUMAN	M	523;516;377;512	ENSP00000372335:T523M;ENSP00000387647:T516M;ENSP00000445757:T377M;ENSP00000399165:T512M	ENSP00000372335:T523M	T	-	2	0	WHSC2	1954896	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.741000	0.98843	2.466000	0.83321	0.462000	0.41574	ACG	NELFA-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000205240.3		-	ENST00000382882.3	Missense_Mutation	SNP	4 : 1985098 - 1985098 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	860	35
IDH2	3418	broad.mit.edu	37	15	90631926	90631926	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90631926G>T	ENST00000559482.1	-	3	294				IDH2_ENST00000539790.1_Missense_Mutation_p.L13M|IDH2_ENST00000540499.2_Missense_Mutation_p.L91M|IDH2_ENST00000330062.3_Missense_Mutation_p.L143M			P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	NA					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			GTCCCCCCCAGGATGTTCCGG	0.552		NA	M		GBM									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		15	15q26.1	3418	socitrate dehydrogenase 2 (NADP+), mitochondrial 		M	0													105	105	105			NA	NA	15		NA											NA				90631926		2200	4298	6498	SO:0001627	intron_variant				CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	3418	3418	1.1.1.42		5383	protein-coding gene	gene with protein product		147650			NA		Standard		NM_001289910	NA	Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000559482.1:c.208-192C>A	15.37:g.90631926G>T		NA	B2R6L6|Q96GT3	37		.	.	.	.	.	.	.	.	.	.	G	13.40	2.225975	0.39300	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.85955	-2.05;-2.05;-2.05	5.67	4.56	0.56223	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.64402	D	0.000001	D	0.94571	0.8251	H	0.98276	4.19	0.44995	D	0.998017	D	0.76494	0.999	D	0.80764	0.994	D	0.94648	0.7836	10	0.87932	D	0	.	8.6475	0.34013	0.1763:0.0:0.8237:0.0	.	143	P48735	IDHP_HUMAN	M	143;13;91	ENSP00000331897:L143M;ENSP00000438457:L13M;ENSP00000446147:L91M	ENSP00000331897:L143M	L	-	1	2	IDH2	88432930	1.000000	0.71417	0.996000	0.52242	0.025000	0.11179	2.443000	0.44881	2.666000	0.90696	0.561000	0.74099	CTG	IDH2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000417508.1		-	ENST00000559482.1	Intron	SNP	15 : 90631926 - 90631926 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	421	72
ANAPC5	51433	broad.mit.edu	37	12	121758243	121758243	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121758243G>T	ENST00000261819.3	-	12	1581	c.1460C>A	c.(1459-1461)tCt>tAt	p.S487Y	ANAPC5_ENST00000535482.1_Missense_Mutation_p.S153Y|ANAPC5_ENST00000541887.1_Missense_Mutation_p.S474Y|ANAPC5_ENST00000441917.2_Missense_Mutation_p.S375Y|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000344395.4_Missense_Mutation_p.S375Y	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	487					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TAACACTTCAGAAGCTGCAGC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	75	78			NA	NA	12		NA											NA				121758243		2203	4300	6503	SO:0001583	missense			AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053	51433	51433		Anaphase promoting complex subunits	15713	protein-coding gene	gene with protein product		606948			NA	9469815	Standard		NM_016237	NA	Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.1460C>A	12.37:g.121758243G>T	ENSP00000261819:p.Ser487Tyr	NA	Q8N4H7|Q9BQD4	37	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339557	0.41398	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	5.59	4.68	0.58851	Tetratricopeptide-like helical (1);	0.224732	0.47455	D	0.000226	T	0.52191	0.1719	L	0.34521	1.04	0.80722	D	1	B;B;B;B	0.16603	0.007;0.002;0.002;0.018	B;B;B;B	0.15870	0.008;0.003;0.009;0.014	T	0.46400	-0.9194	10	0.35671	T	0.21	.	15.5473	0.76112	0.0:0.1432:0.8568:0.0	.	153;89;375;487	F5H0N1;B4DFK4;E9PFB2;Q9UJX4	.;.;.;APC5_HUMAN	Y	375;474;487;153;89;375	ENSP00000415061:S375Y;ENSP00000439875:S474Y;ENSP00000261819:S487Y;ENSP00000343787:S375Y	ENSP00000261819:S487Y	S	-	2	0	ANAPC5	120242626	1.000000	0.71417	0.703000	0.30354	0.903000	0.53119	5.670000	0.68088	1.450000	0.47717	0.655000	0.94253	TCT	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402582.1		-	ENST00000261819.3	Missense_Mutation	SNP	12 : 121758243 - 121758243 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	55
AXL	558	broad.mit.edu	37	19	41765518	41765518	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41765518G>A	ENST00000301178.4	+	20	2584	c.2394G>A	c.(2392-2394)gaG>gaA	p.E798E	AXL_ENST00000359092.3_Silent_p.E789E|AXL_ENST00000593513.1_Silent_p.E530E	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	798	Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GTTTTACAGAGCTGCGGGAAG	0.552		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	19		NA											NA				41765518		2203	4300	6503	SO:0001819	synonymous_variant			M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	558	558	2.7.10.1	Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	905	protein-coding gene	gene with protein product		109135			NA	1656220	Standard		NM_021913	NA	Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.2394G>A	19.37:g.41765518G>A		NA	Q8N5L2|Q9UD27	37	CCDS12575.1																																																																																			AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463323.2		+	ENST00000301178.4	Silent	SNP	19 : 41765518 - 41765518 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	60
NAA60	79903	broad.mit.edu	37	16	3533542	3533542	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3533542G>T	ENST00000360862.5	+	4	596	c.322G>T	c.(322-324)Gat>Tat	p.D108Y	NAA60_ENST00000576916.1_Intron|NAA60_ENST00000608722.1_Missense_Mutation_p.D173Y|LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000414063.2_Missense_Mutation_p.D173Y|NAA60_ENST00000577013.1_Intron|NAA60_ENST00000407558.4_Missense_Mutation_p.D173Y|NAA60_ENST00000570819.1_Intron|NAA60_ENST00000608993.1_Missense_Mutation_p.D108Y|NAA60_ENST00000572584.1_Missense_Mutation_p.D173Y|NAA60_ENST00000575076.1_Missense_Mutation_p.D173Y|NAA60_ENST00000421765.3_Intron|NAA60_ENST00000570551.1_3'UTR|NAA60_ENST00000610180.1_Missense_Mutation_p.D173Y|NAA60_ENST00000424546.2_Missense_Mutation_p.D180Y|NAA60_ENST00000572942.1_Intron|NAA60_ENST00000573580.1_Missense_Mutation_p.D108Y			Q9H7X0	NAT15_HUMAN	N(alpha)-acetyltransferase 60, NatF catalytic subunit	173	N-acetyltransferase.						N-acetyltransferase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						GGTCCTCAAAGATGGCTTCAC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	139	138			NA	NA	16		NA											NA				3533542		1973	4158	6131	SO:0001583	missense				CCDS45396.1	16p13.3	2012-07-13	2011-08-02	2011-08-02	ENSG00000122390	ENSG00000122390	79903	79903	2.3.1.48, 2.3.1.88	N(alpha)-acetyltransferase subunits	25875	protein-coding gene	gene with protein product		614246	N-acetyltransferase 15 (GCN5-related, putative)	NAT15	NA	12975309, 21750686	Standard	NM_024845	NM_001083600	NA	Approved	FLJ14154	uc010btm.3	Q9H7X0	OTTHUMG00000150268	ENST00000360862.5:c.322G>T	16.37:g.3533542G>T	ENSP00000354108:p.Asp108Tyr	NA	D3DUC2|Q6IA31|Q6UX26	37		.	.	.	.	.	.	.	.	.	.	G	27.0	4.792774	0.90453	.	.	ENSG00000122390	ENST00000424546;ENST00000407558;ENST00000414063;ENST00000360862	T;T;T;T	0.65178	-0.14;0.02;0.02;0.57	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.82495	0.5049	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.99	D	0.85130	0.0974	10	0.87932	D	0	-20.2349	18.6698	0.91507	0.0:0.0:1.0:0.0	.	180;173	B4DLZ0;Q9H7X0	.;NAA60_HUMAN	Y	180;173;173;108	ENSP00000401237:D180Y;ENSP00000385903:D173Y;ENSP00000393224:D173Y;ENSP00000354108:D108Y	ENSP00000354108:D108Y	D	+	1	0	NAA60	3473543	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.368000	0.97152	2.733000	0.93635	0.561000	0.74099	GAT	NAA60-003	PUTATIVE	NMD_exception|non_canonical_U12|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000437863.1		+	ENST00000360862.5	Missense_Mutation	SNP	16 : 3533542 - 3533542 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	401	77
VMP1	81671	broad.mit.edu	37	17	57917196	57917196	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57917196C>T	ENST00000262291.4	+	12	1455	c.1145C>T	c.(1144-1146)tCt>tTt	p.S382F	VMP1_ENST00000545362.1_Missense_Mutation_p.S326F|VMP1_ENST00000537567.1_Missense_Mutation_p.S248F|VMP1_ENST00000536180.1_Missense_Mutation_p.S285F|VMP1_ENST00000588617.1_3'UTR|VMP1_ENST00000539763.1_Missense_Mutation_p.S190F	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	382					autophagy|cell adhesion	endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						TTCATCCTATCTATCATTAAC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													257	242	247			NA	NA	17		NA											NA				57917196		2203	4300	6503	SO:0001583	missense				CCDS11619.1	17q23.1	2014-05-20	2011-03-02	2011-03-02	ENSG00000062716	ENSG00000062716	81671	81671			29559	protein-coding gene	gene with protein product	ectopic P-granules autophagy protein 3 homolog (C. elegans), transport and golgi organization 5 homolog (Drosophila)	611753	transmembrane protein 49	TMEM49	NA	11230166, 11785947	Standard	NM_030938	NM_030938	NA	Approved	EPG3, TANGO5	uc002ixu.4	Q96GC9	OTTHUMG00000179882	ENST00000262291.4:c.1145C>T	17.37:g.57917196C>T	ENSP00000262291:p.Ser382Phe	NA	Q9H0P4|Q9P089	37	CCDS11619.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900435	0.72754	.	.	ENSG00000062716	ENST00000262291;ENST00000537567;ENST00000539763;ENST00000536180;ENST00000545362	.	.	.	5.28	4.31	0.51392	.	0.000000	0.85682	D	0.000000	D	0.84683	0.5526	M	0.91354	3.2	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.991;0.994;0.998	D	0.88093	0.2814	9	0.87932	D	0	-9.2677	13.9998	0.64427	0.0:0.9263:0.0:0.0737	.	248;285;326;382	B4DED7;B4DGZ7;F5H2J3;Q96GC9	.;.;.;VMP1_HUMAN	F	382;248;190;285;326	.	ENSP00000262291:S382F	S	+	2	0	VMP1	55271978	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.625000	0.83145	1.230000	0.43646	0.555000	0.69702	TCT	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448793.1		+	ENST00000262291.4	Missense_Mutation	SNP	17 : 57917196 - 57917196 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1025	204
OBSCN	84033	broad.mit.edu	37	1	228553839	228553839	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228553839C>T	ENST00000570156.2	+	94	22073	c.21999C>T	c.(21997-21999)ttC>ttT	p.F7333F	OBSCN_ENST00000366707.4_Silent_p.F4010F|OBSCN_ENST00000422127.1_Silent_p.F6376F	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6376					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGGCCCAATTCGAGGCTATCA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	84	82			NA	NA	1		NA											NA				228553839		2083	4206	6289	SO:0001819	synonymous_variant			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358	84033	84033		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	15719	protein-coding gene	gene with protein product		608616			NA	11448995, 11814696	Standard	NM_052843	NM_001098623	NA	Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000570156.2:c.21999C>T	1.37:g.228553839C>T		NA	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	37	CCDS59204.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.280365	0.23392	.	.	ENSG00000154358	ENST00000441106	.	.	.	5.41	0.847	0.18961	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.617	0.39698	0.0:0.4472:0.0:0.5528	.	.	.	.	X	993	.	.	R	+	1	2	OBSCN	226620462	0.003000	0.15002	0.976000	0.42696	0.151000	0.21798	-0.314000	0.08092	0.112000	0.17975	0.313000	0.20887	CGA	OBSCN-011	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421354.3		+	ENST00000570156.2	Silent	SNP	1 : 228553839 - 228553839 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	484	83
ARHGAP6	395	broad.mit.edu	37	X	11207077	11207077	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:11207077G>A	ENST00000337414.4	-	4	1720	c.848C>T	c.(847-849)cCc>cTc	p.P283L	ARHGAP6_ENST00000380732.3_Missense_Mutation_p.P315L|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.P80L|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.P92L|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.P283L|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.P108L|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.P80L	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	283					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TTGGGATAAGGGCATTCCAAA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	66	71			NA	NA	X		NA											NA				11207077		2203	4300	6503	SO:0001583	missense			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648	395	395		Rho GTPase activating proteins	676	protein-coding gene	gene with protein product		300118			NA	9417914	Standard	NM_013427	XM_005274507	NA	Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.848C>T	X.37:g.11207077G>A	ENSP00000338967:p.Pro283Leu	NA	B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	37	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370066	0.82573	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.33865	1.42;1.48;1.48;1.45;1.39;1.48;1.59;1.66	5.51	5.51	0.81932	Rho GTPase-activating protein domain (1);	0.000000	0.53938	D	0.000055	T	0.54447	0.1859	L	0.46157	1.445	0.80722	D	1	D;D;D;D;D	0.76494	0.994;0.987;0.998;0.997;0.999	P;P;D;P;D	0.66847	0.737;0.824;0.941;0.904;0.947	T	0.56269	-0.8007	10	0.72032	D	0.01	.	18.5172	0.90939	0.0:0.0:1.0:0.0	.	92;80;283;283;283	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	L	108;80;80;283;119;283;92;315	ENSP00000438135:P108L;ENSP00000370112:P80L;ENSP00000302312:P80L;ENSP00000338967:P283L;ENSP00000370093:P119L;ENSP00000370094:P283L;ENSP00000389394:P92L;ENSP00000370108:P315L	ENSP00000302312:P80L	P	-	2	0	ARHGAP6	11116998	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.445000	0.80570	2.315000	0.78130	0.600000	0.82982	CCC	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055760.2		-	ENST00000337414.4	Missense_Mutation	SNP	X : 11207077 - 11207077 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	259	18
LRFN1	57622	broad.mit.edu	37	19	39798503	39798503	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39798503C>T	ENST00000248668.4	-	2	2085	c.2086G>A	c.(2086-2088)Gcc>Acc	p.A696T		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	696						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CTCGGCCGGGCCGCGGCTCCC	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													6	8	7			NA	NA	19		NA											NA				39798503		1814	4005	5819	SO:0001583	missense			BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011	57622	57622		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	29290	protein-coding gene	gene with protein product		612807			NA	10819331, 16828986	Standard	NM_020862	NM_020862	NA	Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.2086G>A	19.37:g.39798503C>T	ENSP00000248668:p.Ala696Thr	NA	Q8TBS9	37	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122258	0.37436	.	.	ENSG00000128011	ENST00000248668	T	0.63096	-0.02	4.32	4.32	0.51571	.	.	.	.	.	T	0.39627	0.1085	N	0.08118	0	0.39200	D	0.963129	P	0.38395	0.629	B	0.31101	0.124	T	0.52616	-0.8552	9	0.54805	T	0.06	.	14.3036	0.66371	0.0:1.0:0.0:0.0	.	696	Q9P244	LRFN1_HUMAN	T	696	ENSP00000248668:A696T	ENSP00000248668:A696T	A	-	1	0	LRFN1	44490343	0.003000	0.15002	0.950000	0.38849	0.046000	0.14306	1.304000	0.33482	1.971000	0.57363	0.462000	0.41574	GCC	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463835.1		-	ENST00000248668.4	Missense_Mutation	SNP	19 : 39798503 - 39798503 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	81	18
ADAMTS17	170691	broad.mit.edu	37	15	100739611	100739611	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100739611C>A	ENST00000268070.4	-	8	1198	c.1093G>T	c.(1093-1095)Ggt>Tgt	p.G365C	ADAMTS17_ENST00000559976.1_5'UTR	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	365	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CTGCACACACCTCCTAAGTAA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													279	226	244			NA	NA	15		NA											NA				100739611		2203	4300	6503	SO:0001583	missense			AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470	170691	170691		ADAM metallopeptidases with thrombospondin type 1 motif	17109	protein-coding gene	gene with protein product		607511	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17		NA	11867212	Standard	NM_139057	NM_139057	NA	Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.1093G>T	15.37:g.100739611C>A	ENSP00000268070:p.Gly365Cys	NA	Q2I7G4|Q6ZN75	37	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638920	0.87760	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	D	0.89343	-2.5	5.55	5.55	0.83447	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.96876	0.8980	H	0.97564	4.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98027	1.0374	10	0.87932	D	0	.	19.5283	0.95215	0.0:1.0:0.0:0.0	.	122;365	Q8TE56-2;Q8TE56	.;ATS17_HUMAN	C	365;122	ENSP00000268070:G365C	ENSP00000268070:G365C	G	-	1	0	ADAMTS17	98557134	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.918000	0.75788	2.596000	0.87737	0.655000	0.94253	GGT	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313595.1		-	ENST00000268070.4	Missense_Mutation	SNP	15 : 100739611 - 100739611 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	761	144
ADCY5	111	broad.mit.edu	37	3	123008674	123008674	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123008674G>A	ENST00000491190.1	-	21	2966	c.2429C>T	c.(2428-2430)gCc>gTc	p.A810V	ADCY5_ENST00000309879.5_Missense_Mutation_p.A802V|ADCY5_ENST00000462833.1_Missense_Mutation_p.A1152V			O95622	ADCY5_HUMAN	adenylate cyclase 5	1152					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GGCAAAGTCGGCCAGTGCCTT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	143	151			NA	NA	3		NA											NA				123008674		2203	4300	6503	SO:0001583	missense			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	111	111	4.6.1.1	Adenylate cyclases	236	protein-coding gene	gene with protein product		600293			NA	10481931	Standard	XM_171048	NM_183357	NA	Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000491190.1:c.2429C>T	3.37:g.123008674G>A	ENSP00000418537:p.Ala810Val	NA	Q7RTV7|Q8NFM3	37		.	.	.	.	.	.	.	.	.	.	G	35	5.500461	0.96355	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879	T;T;T	0.25579	1.79;1.79;1.79	5.13	5.13	0.70059	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.39759	0.1090	L	0.39566	1.225	0.80722	D	1	P;D	0.89917	0.752;1.0	P;D	0.79108	0.531;0.992	T	0.04537	-1.0944	10	0.07644	T	0.81	.	18.7781	0.91920	0.0:0.0:1.0:0.0	.	1152;810	O95622;B3KWA8	ADCY5_HUMAN;.	V	1152;810;802	ENSP00000419361:A1152V;ENSP00000418537:A810V;ENSP00000308685:A802V	ENSP00000308685:A802V	A	-	2	0	ADCY5	124491364	1.000000	0.71417	0.987000	0.45799	0.971000	0.66376	9.650000	0.98490	2.662000	0.90505	0.555000	0.69702	GCC	ADCY5-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000355890.1		-	ENST00000491190.1	Missense_Mutation	SNP	3 : 123008674 - 123008674 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	595	116
UBR5	51366	broad.mit.edu	37	8	103357683	103357683	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103357683C>A	ENST00000521922.1	-	8	1351	c.827G>T	c.(826-828)aGc>aTc	p.S276I	UBR5_ENST00000220959.4_Missense_Mutation_p.S276I|UBR5_ENST00000520539.1_Missense_Mutation_p.S276I			O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	276					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ACCAAAATAGCTAATGTCTTC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(131;96 1741 5634 7352 27489)							NA				0													94	87	90			NA	NA	8		NA											NA				103357683		2203	4300	6503	SO:0001583	missense			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517	51366	51366		Ubiquitin protein ligase E3 component n-recognins	16806	protein-coding gene	gene with protein product		608413	E3 ubiquitin protein ligase, HECT domain containing, 1	EDD1	NA	10030672, 16055722	Standard	NM_015902	NM_015902	NA	Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000521922.1:c.827G>T	8.37:g.103357683C>A	ENSP00000427819:p.Ser276Ile	NA	B2RP24|O94970|Q9NPL3	37		.	.	.	.	.	.	.	.	.	.	C	32	5.190150	0.94923	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.45668	0.9;0.9;0.89	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.50565	0.1623	N	0.22421	0.69	0.80722	D	1	D;D	0.61697	0.99;0.99	D;D	0.69142	0.962;0.962	T	0.32455	-0.9906	10	0.20046	T	0.44	.	20.0016	0.97412	0.0:1.0:0.0:0.0	.	276;276	E7EMW7;O95071	.;UBR5_HUMAN	I	276	ENSP00000429084:S276I;ENSP00000220959:S276I;ENSP00000427819:S276I	ENSP00000220959:S276I	S	-	2	0	UBR5	103426859	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.802000	0.96397	0.655000	0.94253	AGC	UBR5-003	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000380199.1		-	ENST00000521922.1	Missense_Mutation	SNP	8 : 103357683 - 103357683 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	158	27
WFIKKN2	124857	broad.mit.edu	37	17	48918254	48918254	+	Silent	SNP	C	C	T	rs146313081		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48918254C>T	ENST00000311378.4	+	2	2133	c.1605C>T	c.(1603-1605)ggC>ggT	p.G535G	WFIKKN2_ENST00000426127.1_Silent_p.G442G|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	535	NTR.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			AGGTGGACGGCGGCATGGCCA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	56	44	48		1605	-4.1	0.7	17	dbSNP_134	48	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	WFIKKN2	NM_175575.5		0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077		535/577	48918254	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714	124857	124857		Immunoglobulin superfamily / I-set domain containing, WAP four-disulfide core domain containing	30916	protein-coding gene	gene with protein product	WAP four-disulfide core domain 20B	610895			NA	11928817, 12709070	Standard	NM_175575	NM_175575	NA	Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.1605C>T	17.37:g.48918254C>T		NA	Q6UXZ9	37	CCDS11575.1																																																																																			WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368358.1		+	ENST00000311378.4	Silent	SNP	17 : 48918254 - 48918254 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	48
CELSR3	1951	broad.mit.edu	37	3	48696595	48696595	+	Missense_Mutation	SNP	C	C	T	rs61729234	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48696595C>T	ENST00000164024.4	-	1	3753	c.3473G>A	c.(3472-3474)cGc>cAc	p.R1158H	CELSR3_ENST00000544264.1_Missense_Mutation_p.R1158H	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1158	Cadherin 8.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTCAACCAGGCGGACGTGCAC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	119	121			NA	NA	3		NA											NA				48696595		2203	4300	6503	SO:0001583	missense			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300	1951	1951		Cadherins / Major cadherins, -, GPCR / Class B : Orphans	3230	protein-coding gene	gene with protein product	flamingo homolog 1 (Drosophila)	604264	cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog	EGFL1	NA	9693030	Standard	NM_001407	NM_001407	NA	Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.3473G>A	3.37:g.48696595C>T	ENSP00000164024:p.Arg1158His	NA	O75092	37	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	5.571	0.290134	0.10567	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.51574	0.7;0.7	5.63	4.75	0.60458	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.28830	0.0715	N	0.20445	0.575	0.32999	D	0.525948	B;B	0.23316	0.083;0.047	B;B	0.25987	0.065;0.012	T	0.33317	-0.9873	9	0.11794	T	0.64	.	6.7548	0.23507	0.0:0.7018:0.0:0.2982	.	1158;1228	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	H	1158	ENSP00000164024:R1158H;ENSP00000445694:R1158H	ENSP00000164024:R1158H	R	-	2	0	CELSR3	48671599	0.988000	0.35896	0.997000	0.53966	0.894000	0.52154	2.409000	0.44583	1.389000	0.46526	0.561000	0.74099	CGC	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257523.1		-	ENST00000164024.4	Missense_Mutation	SNP	3 : 48696595 - 48696595 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	567	87
FLNA	2316	broad.mit.edu	37	X	153590625	153590625	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153590625C>T	ENST00000344736.4	-	17	2683	c.2641G>A	c.(2641-2643)Ggc>Agc	p.G881S	FLNA_ENST00000369850.3_Missense_Mutation_p.G881S|FLNA_ENST00000422373.1_Missense_Mutation_p.G881S|FLNA_ENST00000360319.4_Missense_Mutation_p.G881S			P21333	FLNA_HUMAN	filamin A, alpha	881					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGACTGAGGCCAGGGCCCTCG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	71	70			NA	NA	X		NA											NA				153590625		2071	4180	6251	SO:0001583	missense			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924	NA	2316			3754	protein-coding gene	gene with protein product	actin binding protein 280	300017	filamin A, alpha (actin binding protein 280)	FLN1, FLN, OPD2, OPD1	NA	8406501, 12612583	Standard		NM_001456	NA	Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000344736.4:c.2641G>A	X.37:g.153590625C>T	ENSP00000358863:p.Gly881Ser	NA	Q5HY53|Q5HY55|Q8NF52	37		.	.	.	.	.	.	.	.	.	.	C	26.9	4.781649	0.90282	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96	4.91	4.91	0.64330	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.97256	0.9103	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.98623	1.0668	10	0.87932	D	0	.	17.5374	0.87835	0.0:1.0:0.0:0.0	.	881;881	P21333-2;P21333	.;FLNA_HUMAN	S	881;854;881;881;881	ENSP00000353467:G881S;ENSP00000416926:G881S;ENSP00000358866:G881S;ENSP00000358863:G881S	ENSP00000358863:G881S	G	-	1	0	FLNA	153243819	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.715000	0.84713	2.156000	0.67533	0.529000	0.55759	GGC	FLNA-010	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000130295.1		-	ENST00000344736.4	Missense_Mutation	SNP	X : 153590625 - 153590625 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	427	116
KCNK1	3775	broad.mit.edu	37	1	233807174	233807174	+	Silent	SNP	G	G	A	rs147325030	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233807174G>A	ENST00000366621.3	+	3	1077	c.909G>A	c.(907-909)tcG>tcA	p.S303S	KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Silent_p.S187S	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	303						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	CCTTCTCCTCGATCACAGACC	0.488		NA											G	15	0.01	0.03	NA	2184	NA	1	,	,	NA	2e-04	NA	NA	NA	0.0069	1	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0								G		77,4329	67.6+/-105.2	1,75,2127	80	73	75		909	4	1	1	dbSNP_134	75	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	KCNK1	NM_002245.3		1,79,6423	AA,AG,GG	NA	0.0465,1.7476,0.6228		303/337	233807174	81,12925	2203	4300	6503	SO:0001819	synonymous_variant			U33632	CCDS1599.1	1q42-q43	2012-03-07			ENSG00000135750	ENSG00000135750	3775	3775		Potassium channels, Voltage-gated ion channels / Potassium channels, Two-P	6272	protein-coding gene	gene with protein product		601745			NA	8661042, 16382106	Standard	NM_002245	NM_002245	NA	Approved	K2p1.1, DPK, TWIK-1	uc010pxo.1	O00180	OTTHUMG00000037923	ENST00000366621.3:c.909G>A	1.37:g.233807174G>A		NA	Q13307|Q5T5E8	37	CCDS1599.1																																																																																			KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092565.1		+	ENST00000366621.3	Silent	SNP	1 : 233807174 - 233807174 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	250	58
PLCB1	23236	broad.mit.edu	37	20	8113379	8113379	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:8113379A>C	ENST00000378641.3	+	1	556	c.81A>C	c.(79-81)aaA>aaC	p.K27N	PLCB1_ENST00000338037.6_Missense_Mutation_p.K27N|PLCB1_ENST00000378637.2_Missense_Mutation_p.K27N	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	27				MAGAQPGVHALQLKPVCVSDSLKKGTKFVKWDDD -> MGS LQGIATKILIRILSDALIRKETDLKS (in Ref. 2; AAF86613).	activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGGGCACCAAATTCGTCAAGT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	35	37			NA	NA	20		NA											NA				8113379		2203	4300	6503	SO:0001583	missense			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	23236	23236	3.1.4.11		15917	protein-coding gene	gene with protein product		607120			NA	10760467, 11118617	Standard		NM_015192	NA	Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000378641.3:c.81A>C	20.37:g.8113379A>C	ENSP00000367908:p.Lys27Asn	NA	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	37	CCDS13103.1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.312533	0.40895	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000404098	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	4.82	4.82	0.62117	.	0.000000	0.64402	D	0.000001	T	0.42787	0.1218	L	0.55103	1.725	0.43896	D	0.996524	B;B;D	0.60575	0.0;0.003;0.988	B;B;P	0.50754	0.002;0.007;0.649	T	0.34925	-0.9809	10	0.36615	T	0.2	.	6.0285	0.19667	0.7487:0.166:0.0853:0.0	.	27;27;26	Q9NQ66;Q9NQ66-2;B1AK73	PLCB1_HUMAN;.;.	N	27;27;27;26	ENSP00000367908:K27N;ENSP00000338185:K27N;ENSP00000367904:K27N;ENSP00000384001:K26N	ENSP00000338185:K27N	K	+	3	2	PLCB1	8061379	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.199000	0.42715	1.929000	0.55896	0.460000	0.39030	AAA	PLCB1-005	KNOWN	alternative_3_UTR|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077940.3		+	ENST00000378641.3	Missense_Mutation	SNP	20 : 8113379 - 8113379 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	207	38
SNAI3	333929	broad.mit.edu	37	16	88747821	88747821	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88747821C>T	ENST00000332281.5	-	2	464	c.378G>A	c.(376-378)ccG>ccA	p.P126P	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	126					oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		GGCCCAAGGTCGGGGACCACC	0.677		NA											C	1	5e-04	0.002	NA	2184	NA	0.9998	,	,	NA	3e-04	NA	NA	NA	6e-04	0.8498	EXOME	NA	NA	6e-04	SNP	Colon(27;366 710 19748 23199 27567)							NA				0													58	70	66			NA	NA	16		NA											NA				88747821		2198	4299	6497	SO:0001819	synonymous_variant			BC041461	CCDS32505.1	16q24.3	2013-05-23	2013-05-23			ENSG00000185669	333929	333929		Snail homologs, Zinc fingers, C2H2-type	18411	protein-coding gene	gene with protein product		612741	zinc finger protein 293, snail homolog 3 (Drosophila)	ZNF293	NA	12579345	Standard		NM_178310	NA	Approved	SMUC, Zfp293	uc002flj.3	Q3KNW1		ENST00000332281.5:c.378G>A	16.37:g.88747821C>T		NA	Q86SU5	37	CCDS32505.1																																																																																			SNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000422582.1		-	ENST00000332281.5	Silent	SNP	16 : 88747821 - 88747821 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	977	57
ZNF556	80032	broad.mit.edu	37	19	2876127	2876127	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2876127C>T	ENST00000586426.1	+	3	254	c.167C>T	c.(166-168)tCt>tTt	p.S56F	ZNF556_ENST00000307635.2_Missense_Mutation_p.S56F			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		GGGTCTATTTCTCAGCAGGAT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	149	145			NA	NA	19		NA											NA				2876127		2203	4300	6503	SO:0001583	missense			BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000	80032	80032		Zinc fingers, C2H2-type, -	25669	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024967	XM_005259647	NA	Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000586426.1:c.167C>T	19.37:g.2876127C>T	ENSP00000467366:p.Ser56Phe	NA	Q96GM3	37		.	.	.	.	.	.	.	.	.	.	C	14.18	2.459786	0.43736	.	.	ENSG00000172000	ENST00000307635	T	0.06218	3.33	2.44	2.44	0.29823	Krueppel-associated box (3);	.	.	.	.	T	0.04952	0.0133	L	0.33137	0.985	0.09310	N	1	D	0.54964	0.969	B	0.41332	0.354	T	0.23976	-1.0173	9	0.09843	T	0.71	.	10.636	0.45565	0.0:1.0:0.0:0.0	.	56	Q9HAH1	ZN556_HUMAN	F	56	ENSP00000302603:S56F	ENSP00000302603:S56F	S	+	2	0	ZNF556	2827127	0.000000	0.05858	0.017000	0.16124	0.270000	0.26580	0.426000	0.21363	1.391000	0.46566	0.393000	0.25936	TCT	ZNF556-002	NOVEL	NAGNAG_splice_site|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000451639.2		+	ENST00000586426.1	Missense_Mutation	SNP	19 : 2876127 - 2876127 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1278	219
SERPINA7	6906	broad.mit.edu	37	X	105280711	105280711	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:105280711C>T	ENST00000327674.4	-	1	674	c.339G>A	c.(337-339)caG>caA	p.Q113Q	SERPINA7_ENST00000372563.1_Silent_p.Q113Q			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	113					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	AGATCAGATGCTGGAAGCCAT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	95	96			NA	NA	X		NA											NA				105280711		2203	4300	6503	SO:0001819	synonymous_variant			M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561	6906	6906		Serine (or cysteine) peptidase inhibitors	11583	protein-coding gene	gene with protein product	thyroxin-binding globulin, thyroxine-binding globulin, alpha-1 antiproteinase, antitrypsin	314200	serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	TBG	NA	24172014	Standard	NM_000354	NM_000354	NA	Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.339G>A	X.37:g.105280711C>T		NA	D3DUX1	37	CCDS14518.1																																																																																			SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057790.1		-	ENST00000327674.4	Silent	SNP	X : 105280711 - 105280711 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	433	129
ACAN	176	broad.mit.edu	37	15	89398733	89398733	+	Missense_Mutation	SNP	C	C	A	rs141525827	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89398733C>A	ENST00000559004.1	+	12	2975	c.2917C>A	c.(2917-2919)Ctc>Atc	p.L973I	ACAN_ENST00000561243.1_Missense_Mutation_p.L973I|ACAN_ENST00000352105.7_Missense_Mutation_p.L973I|ACAN_ENST00000439576.2_Missense_Mutation_p.L973I			E7EX88	E7EX88_HUMAN	aggrecan	973					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGTAGGAGACCTCAGTGGGCT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	146	145			NA	NA	15		NA											NA				89398733		1842	4088	5930	SO:0001583	missense			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766	176	176		Immunoglobulin superfamily / V-set domain containing, Proteoglycans / Extracellular Matrix : Hyalectans	319	protein-coding gene	gene with protein product	aggrecan proteoglycan	155760	chondroitin sulfate proteoglycan 1, aggrecan 1	MSK16, CSPG1, AGC1	NA	1985970	Standard	NM_001135	NM_013227	NA	Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000559004.1:c.2917C>A	15.37:g.89398733C>A	ENSP00000453499:p.Leu973Ile	NA		37		.	.	.	.	.	.	.	.	.	.	C	0.013	-1.635073	0.00806	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.95788	-3.81;-3.81	4.48	-1.44	0.08856	.	1.458670	0.05162	N	0.497976	D	0.89118	0.6624	N	0.17674	0.51	0.09310	N	1	B;B	0.20887	0.049;0.049	B;B	0.32393	0.109;0.145	T	0.79680	-0.1702	10	0.08599	T	0.76	-2.7456	4.1285	0.10138	0.543:0.2503:0.1224:0.0842	.	973;973	E7ENV9;E7EX88	.;.	I	973	ENSP00000387356:L973I;ENSP00000341615:L973I	ENSP00000268134:L973I	L	+	1	0	ACAN	87199737	0.000000	0.05858	0.000000	0.03702	0.088000	0.18126	-1.178000	0.03093	-0.158000	0.11040	-0.311000	0.09066	CTC	ACAN-008	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000418839.1		+	ENST00000559004.1	Missense_Mutation	SNP	15 : 89398733 - 89398733 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1250	239
LRP1B	53353	broad.mit.edu	37	2	141641588	141641588	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141641588C>T	ENST00000389484.3	-	25	4938	c.3967G>A	c.(3967-3969)Gtc>Atc	p.V1323I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1323					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGGCACTGACACCTACAAAA	0.453		NA								TSP Lung(27;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(99;50 2074 2507 20106)							NA				0													94	89	90			NA	NA	2		NA											NA				141641588		2203	4300	6503	SO:0001583	missense			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702	53353	53353		Low density lipoprotein receptors	6693	protein-coding gene	gene with protein product	LRP-deleted in tumors	608766			NA	10766186	Standard	NM_018557	NM_018557	NA	Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3967G>A	2.37:g.141641588C>T	ENSP00000374135:p.Val1323Ile	NA	Q8WY29|Q8WY30|Q8WY31	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	9.790	1.177576	0.21787	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.96265	-2.79;-3.96	5.54	5.54	0.83059	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000002	D	0.93455	0.7912	N	0.25144	0.715	0.52501	D	0.999953	B;D	0.53312	0.277;0.959	B;B	0.43950	0.145;0.437	D	0.92742	0.6209	10	0.33940	T	0.23	.	19.8426	0.96695	0.0:1.0:0.0:0.0	.	506;1323	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	I	1323;1261;468	ENSP00000374135:V1323I;ENSP00000413239:V468I	ENSP00000374135:V1323I	V	-	1	0	LRP1B	141358058	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.728000	0.68531	2.751000	0.94390	0.591000	0.81541	GTC	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254736.2		-	ENST00000389484.3	Missense_Mutation	SNP	2 : 141641588 - 141641588 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	426	37
SLFN5	162394	broad.mit.edu	37	17	33592666	33592666	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33592666G>T	ENST00000542451.1	+	0	1827				SLFN5_ENST00000299977.4_Missense_Mutation_p.R812M			Q08AF3	SLFN5_HUMAN	schlafen family member 5	NA					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		ACAGCAATGAGGAAGAGAAAA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	88	91			NA	NA	17		NA											NA				33592666		2203	4300	6503	SO:0001624	3_prime_UTR_variant			BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750	162394	162394			28286	protein-coding gene	gene with protein product		614952			NA	9846487	Standard	NM_144975	NM_144975	NA	Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000542451.1:c.*544G>T	17.37:g.33592666G>T		NA	Q08AF2|Q8WU54|Q96A82	37		.	.	.	.	.	.	.	.	.	.	g	14.77	2.635308	0.47049	.	.	ENSG00000166750	ENST00000299977	D	0.82893	-1.66	3.14	1.11	0.20524	.	0.367861	0.19839	N	0.104889	D	0.86447	0.5935	M	0.71206	2.165	0.54753	D	0.999986	D	0.89917	1.0	D	0.65987	0.94	D	0.84056	0.0372	10	0.87932	D	0	.	4.8998	0.13769	0.2928:0.0:0.7072:0.0	.	812	Q08AF3	SLFN5_HUMAN	M	812	ENSP00000299977:R812M	ENSP00000299977:R812M	R	+	2	0	SLFN5	30616779	0.283000	0.24277	0.835000	0.33067	0.094000	0.18550	0.297000	0.19101	0.651000	0.30788	-0.126000	0.14955	AGG	SLFN5-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000448650.1		+	ENST00000542451.1	3'UTR	SNP	17 : 33592666 - 33592666 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	345	58
CELSR3	1951	broad.mit.edu	37	3	48698703	48698703	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48698703C>T	ENST00000164024.4	-	1	1645	c.1365G>A	c.(1363-1365)ctG>ctA	p.L455L	CELSR3_ENST00000544264.1_Silent_p.L455L	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	455	Cadherin 2.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGTGGCACGCAGCTGCAGGA	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	27	28			NA	NA	3		NA											NA				48698703		2202	4300	6502	SO:0001819	synonymous_variant			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300	1951	1951		Cadherins / Major cadherins, -, GPCR / Class B : Orphans	3230	protein-coding gene	gene with protein product	flamingo homolog 1 (Drosophila)	604264	cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog	EGFL1	NA	9693030	Standard	NM_001407	NM_001407	NA	Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.1365G>A	3.37:g.48698703C>T		NA	O75092	37	CCDS2775.1																																																																																			CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257523.1		-	ENST00000164024.4	Silent	SNP	3 : 48698703 - 48698703 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	230	58
ARHGEF18	23370	broad.mit.edu	37	19	7531999	7531999	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7531999C>A	ENST00000359920.6	+	15	2693	c.2440C>A	c.(2440-2442)Ctt>Att	p.L814I	CTD-2207O23.3_ENST00000593531.1_Silent_p.T771T|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.L656I	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	814					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GCTCCTGAACCTTCAGGTACA	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	53	52			NA	NA	19		NA											NA				7531999		2203	4300	6503	SO:0001583	missense			AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880	23370	23370		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	17090	protein-coding gene	gene with protein product	Rho-specific guanine nucleotide exchange factor p114		rho/rac guanine nucleotide exchange factor (GEF) 18		NA	9628581, 11318610	Standard	NM_015318	NM_015318	NA	Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.2440C>A	19.37:g.7531999C>A	ENSP00000352995:p.Leu814Ile	NA	A8MV62|B5ME81|O60274|Q6DD92	37	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604987	0.46423	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.41758	0.99;0.99	5.38	5.38	0.77491	.	0.000000	0.48767	D	0.000175	T	0.61261	0.2333	M	0.78801	2.425	0.58432	D	0.999995	P;P	0.46952	0.843;0.887	P;P	0.57244	0.773;0.816	T	0.63328	-0.6662	10	0.52906	T	0.07	-29.0364	14.6139	0.68534	0.0:1.0:0.0:0.0	.	656;814	Q6ZSZ5-2;Q6ZSZ5	.;ARHGI_HUMAN	I	656;814	ENSP00000319200:L656I;ENSP00000352995:L814I	ENSP00000319200:L656I	L	+	1	0	ARHGEF18	7437999	1.000000	0.71417	0.578000	0.28575	0.039000	0.13416	4.215000	0.58534	2.522000	0.85027	0.561000	0.74099	CTT	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000436340.1		+	ENST00000359920.6	Missense_Mutation	SNP	19 : 7531999 - 7531999 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	580	104
BDP1	55814	broad.mit.edu	37	5	70785502	70785502	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:70785502A>C	ENST00000358731.4	+	10	1748	c.1485A>C	c.(1483-1485)aaA>aaC	p.K495N	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	495					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAGGAGAAAAACACAAGAGTA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	54	54			NA	NA	5		NA											NA				70785502		1829	4072	5901	SO:0001583	missense			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734	55814	55814			13652	protein-coding gene	gene with protein product		607012	TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1	TFNR, TAF3B1	NA	11214970, 11040218	Standard	NM_018429	NM_018429	NA	Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.1485A>C	5.37:g.70785502A>C	ENSP00000351575:p.Lys495Asn	NA	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	37	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	A	13.45	2.240903	0.39598	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000451951;ENST00000444711	T	0.41758	0.99	5.26	-1.7	0.08159	.	0.086814	0.49305	D	0.000147	T	0.43897	0.1268	L	0.54323	1.7	0.35443	D	0.795076	B;D;D	0.69078	0.09;0.997;0.996	B;P;P	0.62184	0.027;0.899;0.866	T	0.51513	-0.8696	10	0.23891	T	0.37	.	4.4018	0.11390	0.3442:0.3507:0.3052:0.0	.	495;495;495	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	N	495;495;75;495	ENSP00000351575:K495N	ENSP00000351575:K495N	K	+	3	2	BDP1	70821258	0.015000	0.18098	0.323000	0.25347	0.328000	0.28507	-0.222000	0.09190	0.032000	0.15435	0.379000	0.24179	AAA	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374681.2		+	ENST00000358731.4	Missense_Mutation	SNP	5 : 70785502 - 70785502 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	318	57
TMEM66	0	broad.mit.edu	37	8	29923589	29923589	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:29923589C>A	ENST00000256255.6	-	5	1166	c.909G>T	c.(907-909)tgG>tgT	p.W303C	TMEM66_ENST00000536273.1_Missense_Mutation_p.W131C|TMEM66_ENST00000545648.1_Missense_Mutation_p.W131C	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN		303						integral to membrane				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		AAGCCCTATTCCACGTGCCAG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	126	128			NA	NA	8		NA											NA				29923589		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000256255.6:c.909G>T	8.37:g.29923589C>A	ENSP00000256255:p.Trp303Cys	NA	D3DSU7|Q53HE8|Q9UNZ3|Q9Y683	37	CCDS6074.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	13.95|13.95|13.95	2.389019|2.389019|2.389019	0.42308|0.42308|0.42308	.|.|.	.|.|.	ENSG00000133872|ENSG00000133872|ENSG00000133872	ENST00000518296|ENST00000521265|ENST00000256255;ENST00000545648;ENST00000541035;ENST00000536273	.|.|T;T;T	.|.|0.51574	.|.|0.7;0.7;0.7	5.78|5.78|5.78	4.9|4.9|4.9	0.64082|0.64082|0.64082	.|.|.	.|.|0.366629	.|.|0.29799	.|.|N	.|.|0.011163	.|T|T	.|0.68879|0.68879	.|0.3049|0.3049	M|M|M	0.85859|0.85859|0.85859	2.78|2.78|2.78	0.58432|0.58432|0.58432	D|D|D	0.999999|0.999999|0.999999	.|.|D;D	.|.|0.76494	.|.|0.999;0.998	.|.|D;D	.|.|0.69824	.|.|0.966;0.947	.|T|T	.|0.72763|0.72763	.|-0.4195|-0.4195	.|5|10	.|.|0.59425	.|.|D	.|.|0.04	-19.4179|-19.4179|-19.4179	10.793|10.793|10.793	0.46445|0.46445|0.46445	0.0:0.913:0.0:0.087|0.0:0.913:0.0:0.087|0.0:0.913:0.0:0.087	.|.|.	.|.|303;303	.|.|B3KQQ4;Q96BY9	.|.|.;TMM66_HUMAN	X|V|C	173|303|303;131;267;131	.|.|ENSP00000256255:W303C;ENSP00000441351:W131C;ENSP00000441723:W131C	.|.|ENSP00000256255:W303C	E|G|W	-|-|-	1|2|3	0|0|0	TMEM66|TMEM66|TMEM66	30043131|30043131|30043131	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.864000|0.864000|0.864000	0.33941|0.33941|0.33941	0.009000|0.009000|0.009000	0.06853|0.06853|0.06853	2.362000|2.362000|2.362000	0.44169|0.44169|0.44169	1.441000|1.441000|1.441000	0.47550|0.47550|0.47550	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|GGA|TGG	TMEM66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257254.4		-	ENST00000256255.6	Missense_Mutation	SNP	8 : 29923589 - 29923589 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	456	52
XDH	7498	broad.mit.edu	37	2	31593326	31593326	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31593326T>G	ENST00000379416.3	-	18	1923	c.1875A>C	c.(1873-1875)gaA>gaC	p.E625D		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	625					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CCTTCTTAGCTTCTGATGTAT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(66;682 1445 30109 40147)							NA				0													93	80	84			NA	NA	2		NA											NA				31593326		2203	4300	6503	SO:0001583	missense			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	7498	7498	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	xanthene dehydrogenase		NA	8224915	Standard	NM_000379	NM_000379	NA	Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.1875A>C	2.37:g.31593326T>G	ENSP00000368727:p.Glu625Asp	NA	Q16681|Q16712|Q4PJ16	37	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	T	12.99	2.102553	0.37145	.	.	ENSG00000158125	ENST00000379416	T	0.13089	2.62	6.17	2.51	0.30379	Aldehyde oxidase/xanthine dehydrogenase, a/b hammerhead (3);	0.430804	0.29253	N	0.012683	T	0.21022	0.0506	M	0.66939	2.045	0.44985	D	0.998004	B	0.24317	0.101	B	0.39152	0.292	T	0.02877	-1.1099	10	0.54805	T	0.06	.	9.2083	0.37302	0.0:0.2166:0.0:0.7834	.	625	P47989	XDH_HUMAN	D	625	ENSP00000368727:E625D	ENSP00000368727:E625D	E	-	3	2	XDH	31446830	1.000000	0.71417	0.995000	0.50966	0.355000	0.29361	0.639000	0.24690	0.197000	0.20387	0.533000	0.62120	GAA	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216840.1		-	ENST00000379416.3	Missense_Mutation	SNP	2 : 31593326 - 31593326 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	189	38
SHC4	399694	broad.mit.edu	37	15	49135605	49135605	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49135605C>T	ENST00000332408.4	-	10	1912		c.e10+1		SHC4_ENST00000396535.3_Splice_Site|SHC4_ENST00000537958.1_Splice_Site	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	NA					intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		TAGCTACTTACTTCCGCAGTG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	142	142			NA	NA	15		NA											NA				49135605		2197	4295	6492	SO:0001630	splice_region_variant			AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634	399694	399694		SH2 domain containing	16743	protein-coding gene	gene with protein product	rai-like protein				NA		Standard	NM_203349	NM_203349	NA	Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.1483+1G>A	15.37:g.49135605C>T		NA	Q6UXQ3|Q8IYW3	37	CCDS10130.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.712436	0.68730	.	.	ENSG00000185634	ENST00000332408;ENST00000396535;ENST00000537958	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6164	0.76769	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SHC4	46922897	1.000000	0.71417	0.990000	0.47175	0.817000	0.46193	4.674000	0.61612	2.591000	0.87537	0.650000	0.86243	.	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254371.1	Intron	-	ENST00000332408.4	Splice_Site	SNP	15 : 49135605 - 49135605 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1012	162
SUPV3L1	6832	broad.mit.edu	37	10	70946204	70946204	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70946204C>A	ENST00000359655.4	+	3	415	c.355C>A	c.(355-357)Ctc>Atc	p.L119I	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	119					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TACAGCTCGTCTCTTCCACCA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	145	146			NA	NA	10		NA											NA				70946204		2203	4300	6503	SO:0001583	missense			AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502	6832	6832			11471	protein-coding gene	gene with protein product		605122	suppressor of var1 (S.cerevisiae) 3-like 1		NA	9925937, 16176273	Standard	NM_003171	XM_005270068	NA	Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.355C>A	10.37:g.70946204C>A	ENSP00000352678:p.Leu119Ile	NA	A8K301|O43630	37	CCDS7287.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853047	0.91355	.	.	ENSG00000156502	ENST00000359655	T	0.18810	2.19	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.36386	0.0965	L	0.49513	1.565	0.80722	D	1	P	0.41475	0.751	P	0.50352	0.638	T	0.00824	-1.1551	10	0.52906	T	0.07	-13.5808	20.3151	0.98650	0.0:1.0:0.0:0.0	.	119	Q8IYB8	SUV3_HUMAN	I	119	ENSP00000352678:L119I	ENSP00000352678:L119I	L	+	1	0	SUPV3L1	70616210	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.591000	0.67536	2.809000	0.96659	0.467000	0.42956	CTC	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048396.2		+	ENST00000359655.4	Missense_Mutation	SNP	10 : 70946204 - 70946204 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	475	89
APLP1	333	broad.mit.edu	37	19	36363452	36363452	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36363452G>T	ENST00000221891.4	+	7	1110	c.918G>T	c.(916-918)gaG>gaT	p.E306D	APLP1_ENST00000537454.2_Missense_Mutation_p.E267D|APLP1_ENST00000586861.1_Missense_Mutation_p.E300D	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	306					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAATCAGTGAGCACGAGGGGT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	146	147			NA	NA	19		NA											NA				36363452		2203	4300	6503	SO:0001583	missense			U48437	CCDS32997.1	19q	2008-07-15					333	333			597	protein-coding gene	gene with protein product	amyloid-like protein 1, amyloid precursor-like protein 1	104775			NA	8432545	Standard	NM_001024807	NM_001024807	NA	Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.918G>T	19.37:g.36363452G>T	ENSP00000221891:p.Glu306Asp	NA	O00113|Q96A92	37	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108567	0.77096	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	T;T	0.59638	0.25;0.25	4.89	3.84	0.44239	Amyloidogenic glycoprotein, E2 domain (2);	0.000000	0.48286	D	0.000197	T	0.71829	0.3386	M	0.77486	2.375	0.44282	D	0.99714	D;D;D;D	0.89917	0.979;1.0;0.998;0.999	P;D;D;D	0.80764	0.837;0.994;0.915;0.949	T	0.73914	-0.3832	10	0.66056	D	0.02	-23.1084	7.9565	0.30047	0.1894:0.0:0.8106:0.0	.	300;267;306;306	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	D	267;306	ENSP00000441501:E267D;ENSP00000221891:E306D	ENSP00000221891:E306D	E	+	3	2	APLP1	41055292	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	1.027000	0.30115	2.270000	0.75569	0.462000	0.41574	GAG	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452564.1		+	ENST00000221891.4	Missense_Mutation	SNP	19 : 36363452 - 36363452 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	714	27
IL18R1	8809	broad.mit.edu	37	2	103013310	103013310	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103013310C>T	ENST00000409599.1	+	12	1946	c.1590C>T	c.(1588-1590)gaC>gaT	p.D530D	IL18R1_ENST00000233957.1_Silent_p.D530D			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	530					innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CAGGTAGAGACGAACCGGAAG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	51	50			NA	NA	2		NA											NA				103013310		2203	4300	6503	SO:0001819	synonymous_variant			U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604	8809	8809		Interleukins and interleukin receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	5988	protein-coding gene	gene with protein product		604494			NA	8626725, 10191101	Standard	NM_003855	NM_003855	NA	Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.1590C>T	2.37:g.103013310C>T		NA	B2R9Y5|Q52LC9	37	CCDS2060.1																																																																																			IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253294.2		+	ENST00000409599.1	Silent	SNP	2 : 103013310 - 103013310 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	373	18
DOCK7	85440	broad.mit.edu	37	1	63113959	63113959	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:63113959C>T	ENST00000340370.5	-	6	567	c.550G>A	c.(550-552)Gat>Aat	p.D184N	DOCK7_ENST00000404627.2_Missense_Mutation_p.D184N|DOCK7_ENST00000251157.5_Missense_Mutation_p.D184N	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	184					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GGGGTATCATCTATTGACATT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	59	59			NA	NA	1		NA											NA				63113959		2195	4298	6493	SO:0001583	missense				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641	85440	85440			19190	protein-coding gene	gene with protein product		615730			NA	12432077	Standard	NM_033407	NM_033407	NA	Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.550G>A	1.37:g.63113959C>T	ENSP00000340742:p.Asp184Asn	NA	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q9C092	37	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.832618	0.91036	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	T;T;T	0.20738	2.48;2.48;2.05	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.35595	0.0937	M	0.71581	2.175	0.80722	D	1	B;P;D;D;P	0.69078	0.129;0.887;0.968;0.997;0.511	B;P;P;D;B	0.66497	0.046;0.811;0.864;0.944;0.209	T	0.09840	-1.0656	10	0.42905	T	0.14	.	17.4531	0.87597	0.0:1.0:0.0:0.0	.	184;184;184;184;184	Q96NI0;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.;.	N	184	ENSP00000251157:D184N;ENSP00000340742:D184N;ENSP00000384446:D184N	ENSP00000251157:D184N	D	-	1	0	DOCK7	62886547	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.563000	0.82314	2.333000	0.79357	0.462000	0.41574	GAT	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000036806.1		-	ENST00000340370.5	Missense_Mutation	SNP	1 : 63113959 - 63113959 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	337	70
NCKAP5	344148	broad.mit.edu	37	2	133540637	133540637	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133540637T>C	ENST00000409261.1	-	14	4120	c.3747A>G	c.(3745-3747)agA>agG	p.R1249R	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.R1249R|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1249							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTCTCATGGATCTATTATCTA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	125	126			NA	NA	2		NA											NA				133540637		1985	4166	6151	SO:0001819	synonymous_variant			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771	344148	344148			29847	protein-coding gene	gene with protein product	Nck associated protein 5, peripheral clock protein	608789			NA	9344857	Standard	NM_207481	NM_207363	NA	Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3747A>G	2.37:g.133540637T>C		NA	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	37	CCDS46418.1																																																																																			NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331663.1		-	ENST00000409261.1	Silent	SNP	2 : 133540637 - 133540637 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	600	59
VGLL2	245806	broad.mit.edu	37	6	117586967	117586967	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117586967C>T	ENST00000326274.5	+	1	231	c.41C>T	c.(40-42)cCg>cTg	p.P14L	VGLL2_ENST00000352536.3_Missense_Mutation_p.P14L	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial-like family member 2	14					transcription, DNA-dependent	nucleus				central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		TATGGTCCTCCGCAGCCCTAC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	90	98			NA	NA	6		NA											NA				117586967		2203	4300	6503	SO:0001583	missense			AY056583	CCDS5114.1, CCDS5115.1	6q22.31	2014-03-03	2014-03-03		ENSG00000170162	ENSG00000170162	245806	245806			20232	protein-coding gene	gene with protein product		609979	vestigial like 2 (Drosophila)		NA	12376544	Standard	NM_153453	NM_153453	NA	Approved		uc003pxn.3	Q8N8G2	OTTHUMG00000015451	ENST00000326274.5:c.41C>T	6.37:g.117586967C>T	ENSP00000320957:p.Pro14Leu	NA	Q8WWX1	37	CCDS5115.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326846	0.81690	.	.	ENSG00000170162	ENST00000352536;ENST00000326274	T	0.43294	0.95	5.17	4.29	0.51040	.	0.072118	0.56097	D	0.000031	T	0.22666	0.0547	L	0.27053	0.805	0.58432	D	0.999996	P;D	0.60160	0.456;0.987	B;P	0.45377	0.082;0.478	T	0.03249	-1.1056	10	0.52906	T	0.07	-8.7661	14.9909	0.71387	0.1438:0.8562:0.0:0.0	.	14;14	Q8N8G2-2;Q8N8G2	.;VGLL2_HUMAN	L	14	ENSP00000320957:P14L	ENSP00000320957:P14L	P	+	2	0	VGLL2	117693660	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.794000	0.47853	1.154000	0.42482	0.563000	0.77884	CCG	VGLL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041975.2		+	ENST00000326274.5	Missense_Mutation	SNP	6 : 117586967 - 117586967 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	268	47
EXO5	64789	broad.mit.edu	37	1	40980896	40980896	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40980896C>T	ENST00000372703.1	+	2	1754	c.680C>T	c.(679-681)gCc>gTc	p.A227V	EXO5_ENST00000358527.2_Missense_Mutation_p.A227V|EXO5_ENST00000296380.4_Missense_Mutation_p.A227V					exonuclease 5	NA											NA						ATCTTTGATGCCATGGTACAA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	118	115			NA	NA	1		NA											NA				40980896		2203	4300	6503	SO:0001583	missense			AK024797	CCDS453.1	1p34.2	2012-11-02	2012-10-30	2012-10-30	ENSG00000164002	ENSG00000164002	64789	64789			26115	protein-coding gene	gene with protein product			chromosome 1 open reading frame 176, defects in morphology 1 homolog (S. cerevisiae)	C1orf176, DEM1	NA	23095756	Standard	NM_022774	NM_022774	NA	Approved	FLJ21144	uc001cfp.3	Q9H790	OTTHUMG00000007305	ENST00000372703.1:c.680C>T	1.37:g.40980896C>T	ENSP00000361788:p.Ala227Val	NA		37	CCDS453.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397356	0.62177	.	.	ENSG00000164002	ENST00000358527;ENST00000372703;ENST00000296380;ENST00000443729;ENST00000419161	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.31	4.38	0.52667	.	0.102457	0.39759	N	0.001280	T	0.39655	0.1086	M	0.62723	1.935	0.33180	D	0.549383	P	0.34892	0.474	P	0.45377	0.478	T	0.52990	-0.8501	10	0.30078	T	0.28	-10.3926	12.0283	0.53384	0.0:0.8265:0.1735:0.0	.	227	Q9H790	EXO5_HUMAN	V	227	ENSP00000351328:A227V;ENSP00000361788:A227V;ENSP00000296380:A227V;ENSP00000409715:A227V;ENSP00000392115:A227V	ENSP00000296380:A227V	A	+	2	0	DEM1	40753483	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.835000	0.48175	1.589000	0.49982	0.650000	0.86243	GCC	EXO5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019087.1		+	ENST00000372703.1	Missense_Mutation	SNP	1 : 40980896 - 40980896 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	674	143
EIF4G1	1981	broad.mit.edu	37	3	184052556	184052556	+	Missense_Mutation	SNP	G	G	A	rs140087596	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184052556G>A	ENST00000392537.2	+	30	4646	c.4399G>A	c.(4399-4401)Gtg>Atg	p.V1467M	EIF4G1_ENST00000411531.1_Missense_Mutation_p.V1515M|EIF4G1_ENST00000342981.4_Missense_Mutation_p.V1555M|EIF4G1_ENST00000382330.3_Missense_Mutation_p.V1561M|EIF4G1_ENST00000414031.1_Missense_Mutation_p.V1514M|EIF4G1_ENST00000435046.2_Missense_Mutation_p.V1358M|EIF4G1_ENST00000352767.3_Missense_Mutation_p.V1561M|EIF4G1_ENST00000319274.6_Missense_Mutation_p.V1554M|EIF4G1_ENST00000441154.1_Missense_Mutation_p.V1391M|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000424196.1_Missense_Mutation_p.V1561M|EIF4G1_ENST00000427845.1_Missense_Mutation_p.V1468M|EIF4G1_ENST00000434061.2_Missense_Mutation_p.V1359M|EIF4G1_ENST00000346169.2_Missense_Mutation_p.V1554M|EIF4G1_ENST00000350481.5_Missense_Mutation_p.V1390M	NM_198244.2	NP_937887	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1554	EIF4A-binding.|W2.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGACGAGGACGTGGTGAAGGA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	114	122			NA	NA	3		NA											NA				184052556		2203	4300	6503	SO:0001583	missense			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867	1981	1981		Parkinson disease	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F	NA	1429670, 9372926, 21907011	Standard	NM_182917	NM_182917	NA	Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000392537.2:c.4399G>A	3.37:g.184052556G>A	ENSP00000376320:p.Val1467Met	NA	D3DNT4|D3DNT5|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	37	CCDS3260.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.280436	0.59758	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97	4.15	2.35	0.29111	eIF4-gamma/eIF5/eIF2-epsilon (3);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.071082	0.56097	N	0.000034	D	0.91971	0.7457	M	0.89601	3.045	0.49582	D	0.999802	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.68943	0.951;0.961;0.961	D	0.91105	0.4917	10	0.87932	D	0	-3.1884	9.4062	0.38462	0.1802:0.0:0.8198:0.0	.	1561;1555;1554	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	M	1554;1514;1467;1561;1390;1561;1468;1555;1554;1561;1515;1391;1359;1358	ENSP00000316879:V1554M;ENSP00000391935:V1514M;ENSP00000376320:V1467M;ENSP00000371767:V1561M;ENSP00000317600:V1390M;ENSP00000338020:V1561M;ENSP00000407682:V1468M;ENSP00000343450:V1555M;ENSP00000323737:V1554M;ENSP00000416255:V1561M;ENSP00000395974:V1515M;ENSP00000399858:V1391M;ENSP00000411826:V1359M;ENSP00000404754:V1358M	ENSP00000323737:V1554M	V	+	1	0	EIF4G1	185535250	1.000000	0.71417	0.568000	0.28447	0.917000	0.54804	7.675000	0.84002	0.409000	0.25649	0.555000	0.69702	GTG	EIF4G1-003	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345729.2		+	ENST00000392537.2	Missense_Mutation	SNP	3 : 184052556 - 184052556 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	522	55
ZNF835	90485	broad.mit.edu	37	19	57175556	57175556	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57175556G>A	ENST00000537055.2	-	2	1242	c.1011C>T	c.(1009-1011)ggC>ggT	p.G337G		NM_001005850.2	NP_001005850.2			zinc finger protein 835	NA										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGGCGCACTGGCCGCACGCGT	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	19	20			NA	NA	19		NA											NA				57175556		2202	4295	6497	SO:0001819	synonymous_variant			AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903	90485	90485		Zinc fingers, C2H2-type	34332	protein-coding gene	gene with protein product					NA		Standard	NM_001005850	NM_001005850	NA	Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.1011C>T	19.37:g.57175556G>A		NA		37	CCDS56105.1																																																																																			ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459800.1		-	ENST00000537055.2	Silent	SNP	19 : 57175556 - 57175556 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	153	30
TMEM214	54867	broad.mit.edu	37	2	27258519	27258519	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27258519C>T	ENST00000238788.9	+	4	622	c.560C>T	c.(559-561)gCg>gTg	p.A187V	TMEM214_ENST00000404032.3_Intron	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	187						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GGGCTGCTGGCGAAGGCAGCA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	111	110			NA	NA	2		NA											NA				27258519		1944	4135	6079	SO:0001583	missense				CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777	54867	54867			25983	protein-coding gene	gene with protein product					NA	23661706	Standard	NM_017727	NM_001083590	NA	Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.560C>T	2.37:g.27258519C>T	ENSP00000238788:p.Ala187Val	NA	A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	37	CCDS42664.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596600	0.46318	.	.	ENSG00000119777	ENST00000238788	T	0.44482	0.92	5.67	3.83	0.44106	.	0.332353	0.32273	N	0.006326	T	0.27419	0.0673	N	0.19112	0.55	0.58432	D	0.999992	B	0.09022	0.002	B	0.04013	0.001	T	0.05370	-1.0889	10	0.29301	T	0.29	-0.2477	12.3036	0.54889	0.0:0.7561:0.1646:0.0794	.	187	Q6NUQ4	TM214_HUMAN	V	187	ENSP00000238788:A187V	ENSP00000238788:A187V	A	+	2	0	TMEM214	27112023	0.073000	0.21202	0.046000	0.18839	0.990000	0.78478	0.348000	0.20031	1.392000	0.46585	0.561000	0.74099	GCG	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324748.1		+	ENST00000238788.9	Missense_Mutation	SNP	2 : 27258519 - 27258519 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	681	58
SSBP2	23635	broad.mit.edu	37	5	80762814	80762814	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80762814G>T	ENST00000320672.4	-	9	827	c.617C>A	c.(616-618)cCt>cAt	p.P206H	SSBP2_ENST00000509053.1_Missense_Mutation_p.P176H|SSBP2_ENST00000514493.1_Missense_Mutation_p.P176H|SSBP2_ENST00000515395.1_Missense_Mutation_p.P184H|SSBP2_ENST00000505980.1_Missense_Mutation_p.P186H	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	206	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		AGGCATTCCAGGGCCACCTAA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	81	82			NA	NA	5		NA											NA				80762814		2203	4300	6503	SO:0001583	missense			AF077048	CCDS4056.1, CCDS58960.1, CCDS58961.1, CCDS58962.1, CCDS58963.1, CCDS75268.1	5q14.1	2012-05-25	2001-11-28		ENSG00000145687	ENSG00000145687	23635	23635			15831	protein-coding gene	gene with protein product		607389	single-stranded DNA-binding protein 2		NA	11230166, 11042152	Standard	NM_012446	NM_001256732	NA	Approved	HSPC116	uc003khp.4	P81877	OTTHUMG00000119039	ENST00000320672.4:c.617C>A	5.37:g.80762814G>T	ENSP00000322977:p.Pro206His	NA	B2R5W1|Q8N2Q2|Q9BWW6|Q9Y4T7	37	CCDS4056.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731941	0.89390	.	.	ENSG00000145687	ENST00000320672;ENST00000509053;ENST00000514493;ENST00000380182;ENST00000504985;ENST00000512923;ENST00000505980;ENST00000515395;ENST00000509013	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.83008	0.5161	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;0.999;0.997;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.964;0.968;0.964;0.968;0.998;0.999	T	0.81988	-0.0680	9	0.54805	T	0.06	-1.6827	20.6721	0.99693	0.0:0.0:1.0:0.0	.	176;184;186;159;184;206	E9PDA8;E9PB74;B7Z1J2;A6ND70;B7Z665;P81877	.;.;.;.;.;SSBP2_HUMAN	H	206;176;176;159;120;112;186;184;202	.	ENSP00000322977:P206H	P	-	2	0	SSBP2	80798570	1.000000	0.71417	0.994000	0.49952	0.966000	0.64601	8.734000	0.91543	2.894000	0.99253	0.591000	0.81541	CCT	SSBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239249.1		-	ENST00000320672.4	Missense_Mutation	SNP	5 : 80762814 - 80762814 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	433	79
PAX9	5083	broad.mit.edu	37	14	37132689	37132689	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:37132689G>A	ENST00000361487.6	+	2	817	c.592G>A	c.(592-594)Gtc>Atc	p.V198I	PAX9_ENST00000554201.1_Missense_Mutation_p.V11I|PAX9_ENST00000402703.2_Missense_Mutation_p.V198I			P55771	PAX9_HUMAN	paired box 9	198					multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		CTCGCACTCCGTCACCGACAT	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	32	32			NA	NA	14		NA											NA				37132689		2202	4297	6499	SO:0001583	missense			AJ238381	CCDS9662.1	14q13.3	2007-07-12	2007-07-12		ENSG00000198807	ENSG00000198807	5083	5083		Paired boxes	8623	protein-coding gene	gene with protein product		167416	paired box gene 9		NA	7981748	Standard		NM_006194	NA	Approved		uc001wty.4	P55771	OTTHUMG00000140251	ENST00000361487.6:c.592G>A	14.37:g.37132689G>A	ENSP00000355245:p.Val198Ile	NA	Q99582|Q9UQR4	37	CCDS9662.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561606	0.86335	.	.	ENSG00000198807	ENST00000402703;ENST00000361487;ENST00000554201	D;D;T	0.99353	-5.77;-5.77;0.08	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.99387	0.9784	M	0.84082	2.675	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	D	0.99683	1.0999	10	0.37606	T	0.19	.	18.8295	0.92132	0.0:0.0:1.0:0.0	.	198	P55771	PAX9_HUMAN	I	198;198;11	ENSP00000384817:V198I;ENSP00000355245:V198I;ENSP00000450434:V11I	ENSP00000355245:V198I	V	+	1	0	PAX9	36202440	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	9.861000	0.99562	2.445000	0.82738	0.561000	0.74099	GTC	PAX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276733.2		+	ENST00000361487.6	Missense_Mutation	SNP	14 : 37132689 - 37132689 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	505	96
MYCBP2	23077	broad.mit.edu	37	13	77671856	77671856	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77671856A>G	ENST00000544440.2	-	56	9336	c.9319T>C	c.(9319-9321)Tcc>Ccc	p.S3107P	MYCBP2_ENST00000407578.2_Missense_Mutation_p.S3145P|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S3107P			O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTATGCATGGACATTTCAAAA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	112	118			NA	NA	13		NA											NA				77671856		2203	4300	6503	SO:0001583	missense			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810	23077	23077			23386	protein-coding gene	gene with protein product		610392	MYC binding protein 2		NA	9689053, 15057823	Standard	NM_015057	NM_015057	NA	Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.9319T>C	13.37:g.77671856A>G	ENSP00000444596:p.Ser3107Pro	NA	A6NJC6|Q5JSX8|Q5VZN6|Q6PIB6|Q9UQ11|Q9Y6E4	37		.	.	.	.	.	.	.	.	.	.	A	10.65	1.409384	0.25378	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.29142	1.58;1.58;1.58	5.57	4.37	0.52481	.	0.062205	0.64402	D	0.000003	T	0.14874	0.0359	N	0.08118	0	0.43164	D	0.994955	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.001	T	0.06570	-1.0819	10	0.35671	T	0.21	.	7.2937	0.26380	0.7809:0.1467:0.0724:0.0	.	493;3107;3107	Q9UG08;O75592-2;O75592	.;.;MYCB2_HUMAN	P	3107;3145;3107	ENSP00000349892:S3107P;ENSP00000384288:S3145P;ENSP00000444596:S3107P	ENSP00000349892:S3107P	S	-	1	0	MYCBP2	76569857	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.173000	0.58249	0.918000	0.36919	0.533000	0.62120	TCC	MYCBP2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000045326.1		-	ENST00000544440.2	Missense_Mutation	SNP	13 : 77671856 - 77671856 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	520	15
ZC3H14	79882	broad.mit.edu	37	14	89038501	89038501	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89038501C>T	ENST00000555755.1	+	5	459	c.363C>T	c.(361-363)agC>agT	p.S121S	ZC3H14_ENST00000251038.5_Silent_p.S121S|ZC3H14_ENST00000557607.1_5'UTR|ZC3H14_ENST00000359301.3_Silent_p.S87S|ZC3H14_ENST00000556945.1_Silent_p.S121S|ZC3H14_ENST00000302216.8_Silent_p.S121S|ZC3H14_ENST00000393514.5_Silent_p.S121S|ZC3H14_ENST00000336693.4_Silent_p.S87S			Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	121						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CCATTCCTAGCGCGAGACCTG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,,,	0,4406		0,0,2203	104	101	102		363,363,363,363,261	2.8	0.7	14		102	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ZC3H14	NM_001160103.1,NM_001160104.1,NM_024824.4,NM_207660.3,NM_207661.2	,,,,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,,,,	121/736,121/731,121/737,121/580,87/572	89038501	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722	79882	79882		Zinc fingers, CCCH-type domain containing	20509	protein-coding gene	gene with protein product		613279			NA	10508479	Standard	NM_024824	NM_024824	NA	Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000555755.1:c.363C>T	14.37:g.89038501C>T		NA	A8MY46|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	37	CCDS55938.1	.	.	.	.	.	.	.	.	.	.	C	1.414	-0.574602	0.03882	0.0	1.16E-4	ENSG00000100722	ENST00000556000	.	.	.	5.66	2.84	0.33178	.	.	.	.	.	T	0.59348	0.2187	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52480	-0.8570	4	.	.	.	-1.469	10.1704	0.42906	0.0:0.734:0.0:0.266	.	.	.	.	V	37	.	.	A	+	2	0	ZC3H14	88108254	0.187000	0.23238	0.682000	0.30024	0.019000	0.09904	0.223000	0.17719	0.323000	0.23307	0.563000	0.77884	GCG	ZC3H14-007	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410397.1		+	ENST00000555755.1	Silent	SNP	14 : 89038501 - 89038501 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	372	86
ATP2A1	487	broad.mit.edu	37	16	28900144	28900144	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28900144G>A	ENST00000395503.4	+	9	1149	c.965G>A	c.(964-966)gGt>gAt	p.G322D	ATP2A1_ENST00000536376.1_Missense_Mutation_p.G197D|ATP2A1_ENST00000357084.3_Missense_Mutation_p.G322D	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	322					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CTGGCCCTGGGTACCCGTCGG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	115	119			NA	NA	16		NA											NA				28900144		2197	4300	6497	SO:0001583	missense				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	487	487	3.6.3.8	ATPases / P-type	811	protein-coding gene	gene with protein product	sarcoplasmic/endoplasmic reticulum calcium ATPase 1, calcium pump 1	108730		ATP2A	NA		Standard	NM_004320	NM_004320	NA	Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000395503.4:c.965G>A	16.37:g.28900144G>A	ENSP00000378879:p.Gly322Asp	NA	A8K5J9|O14984	37	CCDS42139.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569331	0.86439	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.92397	-2.9;-2.9;-3.03	5.42	5.42	0.78866	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.98124	0.9381	H	0.99464	4.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99797	1.1034	10	0.87932	D	0	.	17.984	0.89151	0.0:0.0:1.0:0.0	.	197;322;322	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	D	322;322;359;197	ENSP00000349595:G322D;ENSP00000378879:G322D;ENSP00000443101:G197D	ENSP00000349595:G322D	G	+	2	0	ATP2A1	28807645	1.000000	0.71417	0.958000	0.39756	0.611000	0.37282	9.838000	0.99474	2.538000	0.85594	0.467000	0.42956	GGT	ATP2A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254687.2		+	ENST00000395503.4	Missense_Mutation	SNP	16 : 28900144 - 28900144 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	861	168
SDK1	221935	broad.mit.edu	37	7	4002385	4002385	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4002385G>A	ENST00000389531.3	+	9	1331	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	SDK1_ENST00000404826.2_Missense_Mutation_p.R444H			Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	444	Ig-like C2-type 4.				cell adhesion	integral to membrane		p.R444H(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGAGGCCTGCGCATCCAGAAG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)						G	HIS/ARG	0,4406		0,0,2203	50	44	46		1331	2.5	1	7		46	1,8599	1.2+/-3.3	0,1,4299	no	missense	SDK1	NM_152744.3	29	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	444/2214	4002385	1,13005	2203	4300	6503	SO:0001583	missense			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555	221935	221935		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	19307	protein-coding gene	gene with protein product		607216	sidekick homolog 1 (chicken), sidekick homolog 1, cell adhesion molecule (chicken)		NA	12230981, 17307840, 15213259	Standard	NM_152744	NM_001079653	NA	Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000389531.3:c.1331G>A	7.37:g.4002385G>A	ENSP00000374182:p.Arg444His	NA	Q8TEN9|Q8TEP5|Q96N44	37		.	.	.	.	.	.	.	.	.	.	G	11.34	1.610179	0.28712	0.0	1.16E-4	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.69040	-0.37;-0.37	5.34	2.47	0.30058	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.260591	0.33217	N	0.005157	T	0.51058	0.1652	L	0.31926	0.97	0.24963	N	0.991715	B	0.18166	0.026	B	0.09377	0.004	T	0.42413	-0.9453	10	0.40728	T	0.16	.	9.158	0.37005	0.3009:0.0:0.6991:0.0	.	444	Q7Z5N4	SDK1_HUMAN	H	444	ENSP00000385899:R444H;ENSP00000374182:R444H	ENSP00000374182:R444H	R	+	2	0	SDK1	3968911	1.000000	0.71417	0.999000	0.59377	0.917000	0.54804	1.932000	0.40143	0.711000	0.32018	0.650000	0.86243	CGC	SDK1-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000323705.2		+	ENST00000389531.3	Missense_Mutation	SNP	7 : 4002385 - 4002385 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	150	33
CLIC2	1193	broad.mit.edu	37	X	154507346	154507346	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:154507346G>A	ENST00000369449.2	-	6	808	c.590C>T	c.(589-591)gCc>gTc	p.A197V	CLIC2_ENST00000465553.1_5'UTR	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2	197	C-terminal.|GST C-terminal.				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATATTTCTTGGCAGCAACCTA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(108;581 1592 2289 21669 28822)							NA				0													76	68	70			NA	NA	X		NA											NA				154507346		2203	4300	6503	SO:0001583	missense			AJ000217	CCDS14767.1	Xq28	2012-09-26			ENSG00000155962	ENSG00000155962	1193	1193		Ion channels / Chloride channels : Intracellular	2063	protein-coding gene	gene with protein product		300138			NA	9339381	Standard	NM_001289	NM_001289	NA	Approved	XAP121	uc004fnf.3	O15247	OTTHUMG00000022660	ENST00000369449.2:c.590C>T	X.37:g.154507346G>A	ENSP00000358460:p.Ala197Val	NA	A8K9S0|O15174|Q5JT80|Q8TCE3	37	CCDS14767.1	.	.	.	.	.	.	.	.	.	.	g	21.6	4.178450	0.78564	.	.	ENSG00000155962	ENST00000369449	D	0.93906	-3.31	5.19	4.32	0.51571	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.055211	0.64402	D	0.000001	D	0.94238	0.8150	M	0.75085	2.285	0.45733	D	0.998634	D	0.65815	0.995	P	0.56514	0.8	D	0.92781	0.6240	10	0.48119	T	0.1	-9.8228	6.8635	0.24079	0.0978:0.1731:0.7291:0.0	.	197	O15247	CLIC2_HUMAN	V	197	ENSP00000358460:A197V	ENSP00000358460:A197V	A	-	2	0	CLIC2	154160540	1.000000	0.71417	0.997000	0.53966	0.871000	0.50021	4.799000	0.62517	1.115000	0.41800	-0.268000	0.10319	GCC	CLIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058793.1		-	ENST00000369449.2	Missense_Mutation	SNP	X : 154507346 - 154507346 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	342	101
GP5	2814	broad.mit.edu	37	3	194118727	194118727	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:194118727A>G	ENST00000401815.1	-	1	356	c.285T>C	c.(283-285)agT>agC	p.S95S	GP5_ENST00000323007.3_Silent_p.S95S			P40197	GPV_HUMAN	glycoprotein V (platelet)	95					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		TTATCAGGTCACTGAAGGTGC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	83	81			NA	NA	3		NA											NA				194118727		2203	4300	6503	SO:0001819	synonymous_variant			L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732	2814	2814		CD molecules	4443	protein-coding gene	gene with protein product		173511			NA	7690959	Standard	NM_004488	NM_004488	NA	Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.285T>C	3.37:g.194118727A>G		NA		37	CCDS3307.1																																																																																			GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317710.1		-	ENST00000401815.1	Silent	SNP	3 : 194118727 - 194118727 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	685	99
ADAM8	101	broad.mit.edu	37	10	135086319	135086319	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135086319C>T	ENST00000445355.3	-	8	738	c.688G>A	c.(688-690)Gtg>Atg	p.V230M	ADAM8_ENST00000415217.3_Missense_Mutation_p.V230M|ADAM8_ENST00000485491.2_Missense_Mutation_p.V191M	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN	ADAM metallopeptidase domain 8	191					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		ACGTGATTCACCACCTCCAGC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	59	61			NA	NA	10		NA											NA				135086319		2197	4296	6493	SO:0001583	missense			D26579	CCDS31319.2, CCDS58102.1, CCDS58103.1	10q26.3	2014-03-20	2005-08-18		ENSG00000151651	ENSG00000151651	101	101		ADAM metallopeptidase domain containing, CD molecules	215	protein-coding gene	gene with protein product		602267	a disintegrin and metalloproteinase domain 8		NA	9126482	Standard	NM_001109	NM_001109	NA	Approved	CD156, MS2, CD156a	uc021qbe.1	P78325	OTTHUMG00000019309	ENST00000445355.3:c.688G>A	10.37:g.135086319C>T	ENSP00000453302:p.Val230Met	NA		37	CCDS31319.2																																																																																			ADAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051118.4		-	ENST00000445355.3	Missense_Mutation	SNP	10 : 135086319 - 135086319 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	284	46
ZC3H7B	23264	broad.mit.edu	37	22	41747608	41747608	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41747608G>A	ENST00000352645.4	+	17	2249	c.1992G>A	c.(1990-1992)tgG>tgA	p.W664*	ZC3H7B_ENST00000351589.4_Nonsense_Mutation_p.W664*	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	680					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AGAAGTACTGGCAGCAGATGG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	50	53			NA	NA	22		NA											NA				41747608		2203	4300	6503	SO:0001587	stop_gained				CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403	23264	23264		Zinc fingers, CCCH-type domain containing, Tetratricopeptide (TTC) repeat domain containing	30869	protein-coding gene	gene with protein product					NA	10470851, 11230166	Standard	NM_017590	NM_017590	NA	Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.1992G>A	22.37:g.41747608G>A	ENSP00000345793:p.Trp664*	NA	A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	37	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	G	41	8.652374	0.98901	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	.	.	.	5.49	5.49	0.81192	.	0.112513	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.8488	19.4218	0.94725	0.0:0.0:1.0:0.0	.	.	.	.	X	664	.	ENSP00000263243:W664X	W	+	3	0	ZC3H7B	40077554	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.413000	0.97351	2.593000	0.87608	0.456000	0.33151	TGG	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320696.1		+	ENST00000352645.4	Nonsense_Mutation	SNP	22 : 41747608 - 41747608 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	169	23
CPS1	1373	broad.mit.edu	37	2	211533008	211533008	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211533008G>A	ENST00000233072.5	+	34	4297	c.4101G>A	c.(4099-4101)caG>caA	p.Q1367Q	CPS1_ENST00000430249.2_Splice_Site_p.Q1373Q|CPS1_ENST00000451903.2_Splice_Site_p.Q916Q	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1367					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TAGGCATCCAGGTAAGTGGTT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	81	84			NA	NA	2		NA											NA				211533008		2203	4299	6502	SO:0001630	splice_region_variant			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	1373	1373	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	carbamoyl-phosphate synthetase 1, mitochondrial		NA		Standard		NM_001122633	NA	Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.4101+1G>A	2.37:g.211533008G>A		NA	B7Z818|O43774|Q7Z5I5	37	CCDS2393.1																																																																																			CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256569.5	Silent	+	ENST00000233072.5	Splice_Site	SNP	2 : 211533008 - 211533008 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	397	106
ULK3	25989	broad.mit.edu	37	15	75131059	75131059	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75131059C>T	ENST00000440863.2	-	10	1118	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	ULK3_ENST00000568667.1_Missense_Mutation_p.E354K|ULK3_ENST00000569437.1_Missense_Mutation_p.E343K	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	343	MIT 1.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(2)	2						GCCTTGAGCTCCTCAGCCCGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	36	35			NA	NA	15		NA											NA				75131059		1963	4154	6117	SO:0001583	missense			BC048289		15q24.1	2013-07-02	2013-07-02			ENSG00000140474	25989	25989			19703	protein-coding gene	gene with protein product		613472	unc-51-like kinase 3 (C. elegans)		NA		Standard	NM_015518	XM_005254289	NA	Approved	DKFZP434C131, FLJ90566	uc010bkf.1	Q6PHR2		ENST00000440863.2:c.1027G>A	15.37:g.75131059C>T	ENSP00000400312:p.Glu343Lys	NA	B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	37	CCDS45305.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169665	0.78452	.	.	ENSG00000140474	ENST00000440863;ENST00000418051	T	0.70045	-0.45	5.02	4.1	0.47936	MIT (2);	.	.	.	.	T	0.58609	0.2134	N	0.20610	0.595	0.49483	D	0.999794	P;P;P;P	0.46706	0.767;0.854;0.883;0.873	B;P;P;B	0.49140	0.376;0.479;0.601;0.412	T	0.58387	-0.7645	9	0.40728	T	0.16	-15.3133	12.0722	0.53624	0.0:0.9153:0.0:0.0847	.	354;253;343;343	B4DFT0;B4DFS6;Q6PHR2;Q6PHR2-3	.;.;ULK3_HUMAN;.	K	343;354	ENSP00000400312:E343K	ENSP00000393658:E354K	E	-	1	0	ULK3	72918112	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.003000	0.76310	1.103000	0.41568	0.491000	0.48974	GAG	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421734.4		-	ENST00000440863.2	Missense_Mutation	SNP	15 : 75131059 - 75131059 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	114	31
DMRT1	1761	broad.mit.edu	37	9	847106	847106	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:847106G>T	ENST00000569227.1	+	2	388	c.27G>T	c.(25-27)caG>caT	p.Q9H	DMRT1_ENST00000382276.3_Missense_Mutation_p.Q167H			Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	167					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		GCACCTCTCAGCCACCGCCGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	43	45			NA	NA	9		NA											NA				847106		2203	4300	6503	SO:0001583	missense			AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090	1761	1761			2934	protein-coding gene	gene with protein product	DM domain expressed in testis 1	602424			NA	9490411, 10332030	Standard	NM_021951	XM_006716732	NA	Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000569227.1:c.27G>T	9.37:g.847106G>T	ENSP00000454701:p.Gln9His	NA	B2R913|Q8IW77	37		.	.	.	.	.	.	.	.	.	.	G	12.34	1.908389	0.33721	.	.	ENSG00000137090	ENST00000382276	T	0.18810	2.19	4.8	3.9	0.45041	.	1.441650	0.04171	N	0.324722	T	0.33760	0.0874	L	0.45285	1.41	0.30040	N	0.812651	D;B	0.61697	0.99;0.006	P;B	0.59288	0.855;0.016	T	0.05599	-1.0875	10	0.42905	T	0.14	.	5.3827	0.16199	0.1814:0.1671:0.6516:0.0	.	167;167	Q9Y5R6;Q6T1H9	DMRT1_HUMAN;.	H	167	ENSP00000371711:Q167H	ENSP00000371711:Q167H	Q	+	3	2	DMRT1	837106	0.999000	0.42202	0.786000	0.31890	0.451000	0.32288	0.949000	0.29109	1.025000	0.39708	0.655000	0.94253	CAG	DMRT1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000420764.1		+	ENST00000569227.1	Missense_Mutation	SNP	9 : 847106 - 847106 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	286	35
SMC1B	27127	broad.mit.edu	37	22	45767427	45767427	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45767427G>A	ENST00000357450.4	-	14	2236	c.2237C>T	c.(2236-2238)tCt>tTt	p.S746F	SMC1B_ENST00000404354.3_Missense_Mutation_p.S746F	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	746					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AATACATTGAGACTCAATATT	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	84	87			NA	NA	22		NA											NA				45767427		1815	4065	5880	SO:0001583	missense			AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935	27127	27127		Structural maintenance of chromosomes proteins	11112	protein-coding gene	gene with protein product		608685	SMC1 (structural maintenance of chromosomes 1, yeast)-like 1, SMC1 structural maintenance of chromosomes 1-like 2 (yeast)	SMC1L2	NA	10591208, 11564881	Standard	NM_148674	XM_005261566	NA	Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.2237C>T	22.37:g.45767427G>A	ENSP00000350036:p.Ser746Phe	NA	A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	37	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.634746	0.67130	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.79749	-1.3;-1.14	5.66	5.66	0.87406	RecF/RecN/SMC (1);	0.000000	0.64402	D	0.000019	D	0.87569	0.6210	L	0.60455	1.87	0.47994	D	0.999563	P;D;P	0.63880	0.543;0.993;0.92	P;D;P	0.65443	0.719;0.935;0.783	D	0.87998	0.2754	10	0.66056	D	0.02	.	17.5125	0.87764	0.0:0.0:1.0:0.0	.	746;746;746	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	F	746	ENSP00000350036:S746F;ENSP00000385902:S746F	ENSP00000350036:S746F	S	-	2	0	SMC1B	44146091	1.000000	0.71417	0.992000	0.48379	0.522000	0.34438	5.567000	0.67378	2.669000	0.90835	0.655000	0.94253	TCT	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322256.2		-	ENST00000357450.4	Missense_Mutation	SNP	22 : 45767427 - 45767427 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	179	44
HYAL4	23553	broad.mit.edu	37	7	123508656	123508656	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123508656G>T	ENST00000223026.4	+	3	967	c.329G>T	c.(328-330)gGa>gTa	p.G110V	HYAL4_ENST00000476325.1_Missense_Mutation_p.G110V	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	110					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CCCATTAATGGAGGTCTCCCA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	73	71			NA	NA	7		NA											NA				123508656		2203	4300	6503	SO:0001583	missense			AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302	23553	23553			5323	protein-coding gene	gene with protein product	hyaluronidase 4	604510			NA	10493834	Standard	NM_012269	NM_012269	NA	Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.329G>T	7.37:g.123508656G>T	ENSP00000223026:p.Gly110Val	NA	Q9UL99|Q9Y6T9	37	CCDS5789.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658059	0.67586	.	.	ENSG00000106302	ENST00000223026;ENST00000476325	T;T	0.56103	0.48;0.48	5.49	5.49	0.81192	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.81302	0.4794	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.979;0.988	D	0.86451	0.1773	9	.	.	.	-35.1934	19.3677	0.94471	0.0:0.0:1.0:0.0	.	110;110	F8WDH9;Q2M3T9	.;HYAL4_HUMAN	V	110	ENSP00000223026:G110V;ENSP00000417186:G110V	.	G	+	2	0	HYAL4	123295892	1.000000	0.71417	0.960000	0.40013	0.419000	0.31324	9.792000	0.99085	2.582000	0.87167	0.655000	0.94253	GGA	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348545.1		+	ENST00000223026.4	Missense_Mutation	SNP	7 : 123508656 - 123508656 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	520	92
CCDC171	203238	broad.mit.edu	37	9	15723736	15723736	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:15723736A>C	ENST00000380701.3	+	13	1811	c.1483A>C	c.(1483-1485)Aat>Cat	p.N495H	CCDC171_ENST00000297641.3_Missense_Mutation_p.N495H	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	495			N -> I (in dbSNP:rs10962127).								NA						TCACACTAAAAATATAAAGGT	0.274		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	35	34			NA	NA	9		NA											NA				15723736		2195	4265	6460	SO:0001583	missense			AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989	203238	203238			29828	protein-coding gene	gene with protein product	myosin tail domain containing protein		chromosome 9 open reading frame 93	C9orf93	NA	14702039	Standard	NM_173550	NM_173550	NA	Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.1483A>C	9.37:g.15723736A>C	ENSP00000370077:p.Asn495His	NA	Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	37	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	A	14.86	2.660058	0.47572	.	.	ENSG00000164989	ENST00000297641;ENST00000380701	T;T	0.47528	0.84;0.84	5.66	4.45	0.53987	.	0.820361	0.11527	N	0.555102	T	0.43942	0.1270	N	0.24115	0.695	0.80722	D	1	D;D;D	0.54964	0.969;0.969;0.969	P;P;P	0.54100	0.742;0.66;0.742	T	0.03922	-1.0992	10	0.13470	T	0.59	-4.8921	11.332	0.49482	0.865:0.0:0.0:0.135	.	503;495;495	B7ZM22;Q6TFL3-3;Q6TFL3	.;.;CI093_HUMAN	H	495	ENSP00000297641:N495H;ENSP00000370077:N495H	ENSP00000297641:N495H	N	+	1	0	C9orf93	15713736	0.875000	0.30112	1.000000	0.80357	0.996000	0.88848	1.195000	0.32186	2.279000	0.76181	0.533000	0.62120	AAT	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051768.4		+	ENST00000380701.3	Missense_Mutation	SNP	9 : 15723736 - 15723736 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	148	17
SLC6A8	6535	broad.mit.edu	37	X	152960076	152960076	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:152960076G>A	ENST00000253122.5	+	11	2060	c.1584G>A	c.(1582-1584)ccG>ccA	p.P528P	SLC6A8_ENST00000485324.1_3'UTR|SLC6A8_ENST00000430077.2_Silent_p.P413P	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	528					creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	TCTTCACCCCGCTGGTCTGCA	0.652		NA											g	2	0.0012	NA	NA	1659	NA	0.9997	,	,	NA	3e-04	0.0034	NA	NA	0.0011	0.8603	EXOME	NA	NA	7e-04	SNP								NA				0													41	39	40			NA	NA	X		NA											NA				152960076		2202	4294	6496	SO:0001819	synonymous_variant				CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821	6535	6535		Solute carriers	11055	protein-coding gene	gene with protein product	creatine transporter	300036	solute carrier family 6 (neurotransmitter transporter, creatine), member 8		NA	7774949	Standard		NM_001142805	NA	Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.1584G>A	X.37:g.152960076G>A		NA	Q66I36	37	CCDS14726.1																																																																																			SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000061003.1		+	ENST00000253122.5	Silent	SNP	X : 152960076 - 152960076 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	214	73
C15orf39	56905	broad.mit.edu	37	15	75499684	75499684	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75499684C>A	ENST00000360639.2	+	2	1615	c.1295C>A	c.(1294-1296)cCt>cAt	p.P432H	C15orf39_ENST00000567617.1_Missense_Mutation_p.P432H|C15orf39_ENST00000394987.4_Missense_Mutation_p.P432H			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	432										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CCTGTGAGGCCTGCACAGGAA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	39	38			NA	NA	15		NA											NA				75499684		2197	4294	6491	SO:0001583	missense			AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173	56905	56905			24497	protein-coding gene	gene with protein product			chromosome 15 open reading frame 38~Name Same As HGNC:28782		NA		Standard	NM_015492	NM_015492	NA	Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.1295C>A	15.37:g.75499684C>A	ENSP00000353854:p.Pro432His	NA	B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	37	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	C	9.506	1.104607	0.20632	.	.	ENSG00000167173	ENST00000360639;ENST00000394987	T;T	0.69926	-0.44;-0.44	4.89	3.97	0.46021	.	0.193003	0.33895	N	0.004454	T	0.72550	0.3474	L	0.60455	1.87	0.37175	D	0.903238	D	0.71674	0.998	P	0.61003	0.882	T	0.77835	-0.2440	10	0.87932	D	0	-3.5373	8.1575	0.31178	0.0:0.8921:0.0:0.1079	.	432	Q6ZRI6	CO039_HUMAN	H	432	ENSP00000353854:P432H;ENSP00000378438:P432H	ENSP00000353854:P432H	P	+	2	0	C15orf39	73286737	0.005000	0.15991	0.436000	0.26797	0.255000	0.26057	0.529000	0.23019	2.280000	0.76307	0.462000	0.41574	CCT	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286410.1		+	ENST00000360639.2	Missense_Mutation	SNP	15 : 75499684 - 75499684 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	463	69
EPAS1	2034	broad.mit.edu	37	2	46603819	46603819	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46603819G>T	ENST00000263734.3	+	9	1686	c.1176G>T	c.(1174-1176)aaG>aaT	p.K392N		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	392					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TATTCACCAAGCTAAAGGAGG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	93	91			NA	NA	2		NA											NA				46603819		2203	4300	6503	SO:0001583	missense			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016	2034	2034		Basic helix-loop-helix proteins	3374	protein-coding gene	gene with protein product	HIF-1 alpha-like factor	603349			NA	9000051, 9079689, 18378852	Standard	NM_001430	NM_001430	NA	Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1176G>T	2.37:g.46603819G>T	ENSP00000263734:p.Lys392Asn	NA	Q86VA2|Q99630	37	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586851	0.46110	.	.	ENSG00000116016	ENST00000263734	T	0.53640	0.61	5.38	2.57	0.30868	.	0.000000	0.85682	D	0.000000	T	0.49115	0.1538	M	0.82193	2.58	0.49213	D	0.999769	B	0.21225	0.053	B	0.21917	0.037	T	0.51631	-0.8681	10	0.72032	D	0.01	.	8.7763	0.34765	0.3083:0.0:0.6917:0.0	.	392	Q99814	EPAS1_HUMAN	N	392	ENSP00000263734:K392N	ENSP00000263734:K392N	K	+	3	2	EPAS1	46457323	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.883000	0.28200	0.628000	0.30357	0.462000	0.41574	AAG	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250752.2		+	ENST00000263734.3	Missense_Mutation	SNP	2 : 46603819 - 46603819 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	999	121
ERCC3	2071	broad.mit.edu	37	2	128050320	128050320	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128050320C>T	ENST00000285398.2	-	3	431	c.337G>A	c.(337-339)Gtg>Atg	p.V113M	ERCC3_ENST00000493187.2_Missense_Mutation_p.V49M	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	113					cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TACTCATGCACATGGGTTGGT	0.507		NA	Mis, S			skin basal cell, skin squamous cell, melanoma		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)		E	0													117	103	108			NA	NA	2		NA											NA				128050320		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161	2071	2071		General transcription factors, General transcription factor IIH complex subunits	3435	protein-coding gene	gene with protein product	xeroderma pigmentosum group B complementing	133510	excision repair cross-complementing rodent repair deficiency, complementation group 3		NA	8202161	Standard	NM_000122	NM_000122	NA	Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.337G>A	2.37:g.128050320C>T	ENSP00000285398:p.Val113Met	NA	Q53QM0	37	CCDS2144.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.085569	0.36758	.	.	ENSG00000163161	ENST00000285398;ENST00000493187	T;T	0.74002	-0.8;-0.8	4.77	4.77	0.60923	.	0.307501	0.31847	N	0.006968	T	0.56016	0.1957	N	0.21194	0.64	0.33026	D	0.529526	B	0.18461	0.028	B	0.22386	0.039	T	0.57159	-0.7859	10	0.24483	T	0.36	-26.3485	5.6572	0.17648	0.0:0.7656:0.0:0.2344	.	113	P19447	ERCC3_HUMAN	M	113;49	ENSP00000285398:V113M;ENSP00000444796:V49M	ENSP00000285398:V113M	V	-	1	0	ERCC3	127766790	0.416000	0.25424	1.000000	0.80357	0.997000	0.91878	1.073000	0.30691	2.475000	0.83589	0.650000	0.86243	GTG	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331028.1		-	ENST00000285398.2	Missense_Mutation	SNP	2 : 128050320 - 128050320 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	440	110
GABRA4	2557	broad.mit.edu	37	4	46976326	46976326	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46976326G>A	ENST00000264318.3	-	6	1626	c.644C>T	c.(643-645)cCg>cTg	p.P215L		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	215					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.P215L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGACTCCTTCGGAACTTCAAC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(6;283 369 8234 12290 33402)							NA				1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											116	107	110			NA	NA	4		NA											NA				46976326		2203	4300	6503	SO:0001583	missense				CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158	2557	2557		GABA receptors, Ligand-gated ion channels / GABA(A) receptors	4078	protein-coding gene	gene with protein product	GABA(A) receptor, alpha 4	137141			NA	7607683	Standard		NM_000809	NA	Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.644C>T	4.37:g.46976326G>A	ENSP00000264318:p.Pro215Leu	NA	Q8IYR7	37	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	32	5.118152	0.94385	.	.	ENSG00000109158	ENST00000264318	T	0.78816	-1.21	5.34	5.34	0.76211	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.84701	0.5530	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85239	0.1037	10	0.62326	D	0.03	.	18.22	0.89898	0.0:0.0:1.0:0.0	.	215	P48169	GBRA4_HUMAN	L	215	ENSP00000264318:P215L	ENSP00000264318:P215L	P	-	2	0	GABRA4	46671083	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.657000	0.98554	2.774000	0.95407	0.650000	0.86243	CCG	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216893.1		-	ENST00000264318.3	Missense_Mutation	SNP	4 : 46976326 - 46976326 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	411	76
TENM2	57451	broad.mit.edu	37	5	167645592	167645592	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167645592C>T	ENST00000520394.1	+	19	4030	c.3979C>T	c.(3979-3981)Cgg>Tgg	p.R1327W	TENM2_ENST00000519204.1_Missense_Mutation_p.R1445W|TENM2_ENST00000518659.1_Missense_Mutation_p.R1566W|TENM2_ENST00000403607.2_Missense_Mutation_p.R1390W|TENM2_ENST00000545108.1_Missense_Mutation_p.R1565W					teneurin transmembrane protein 2	NA											NA						TGGAAATATTCGGATCAGGGC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	160	162			NA	NA	5		NA											NA				167645592		1954	4138	6092	SO:0001583	missense			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934	57451	57451			29943	protein-coding gene	gene with protein product		610119	odz, odd Oz/ten-m homolog 2 (Drosophila)	ODZ2	NA	10625539	Standard	NM_001122679	NM_001122679	NA	Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000520394.1:c.3979C>T	5.37:g.167645592C>T	ENSP00000427874:p.Arg1327Trp	NA		37		.	.	.	.	.	.	.	.	.	.	C	25.0	4.587215	0.86851	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;T;D;D;D	0.91180	-2.8;0.38;-2.8;-2.8;-2.8	5.95	5.95	0.96441	Six-bladed beta-propeller, TolB-like (1);	0.048995	0.85682	D	0.000000	D	0.96259	0.8780	M	0.87180	2.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.995	D	0.96120	0.9084	10	0.87932	D	0	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	1565;1566;1327	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	W	1566;1565;1445;1327;1390	ENSP00000429430:R1566W;ENSP00000438635:R1565W;ENSP00000428964:R1445W;ENSP00000427874:R1327W;ENSP00000384905:R1390W	ENSP00000384905:R1390W	R	+	1	2	ODZ2	167578170	1.000000	0.71417	0.994000	0.49952	0.965000	0.64279	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	CGG	TENM2-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000371066.2		+	ENST00000520394.1	Missense_Mutation	SNP	5 : 167645592 - 167645592 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	933	163
TBC1D2B	23102	broad.mit.edu	37	15	78322507	78322507	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78322507G>A	ENST00000409931.3	-	4	760	c.689C>T	c.(688-690)tCg>tTg	p.S230L	TBC1D2B_ENST00000300584.3_Missense_Mutation_p.S230L			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	230						intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						AGAAGACATCGAATTCCTGTT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	44	46			NA	NA	15		NA											NA				78322507		2196	4293	6489	SO:0001583	missense			AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202	23102	23102			29183	protein-coding gene	gene with protein product					NA	10470851	Standard	NM_015079	NM_015079	NA	Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000409931.3:c.689C>T	15.37:g.78322507G>A	ENSP00000387165:p.Ser230Leu	NA	A7MD42|Q8N1F9|Q9NXM0	37	CCDS32301.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.70|17.70	3.453516|3.453516	0.63290|0.63290	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000418039|ENST00000409931;ENST00000300584;ENST00000435468	.|T;T	.|0.10763	.|2.84;2.84	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	.|0.135418	.|0.51477	.|D	.|0.000098	.|T	.|0.33904	.|0.0879	M|M	0.75447|0.75447	2.3|2.3	0.53688|0.53688	D|D	0.999977|0.999977	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.69307	.|0.963;0.909	.|T	.|0.09952	.|-1.0651	.|10	.|0.87932	.|D	.|0	.|.	17.4355|17.4355	0.87550|0.87550	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|230;230	.|Q9UPU7-2;Q9UPU7	.|.;TBD2B_HUMAN	X|L	112|230;230;118	.|ENSP00000387165:S230L;ENSP00000300584:S230L	.|ENSP00000300584:S230L	R|S	-|-	1|2	2|0	TBC1D2B|TBC1D2B	76109562|76109562	1.000000|1.000000	0.71417|0.71417	0.958000|0.958000	0.39756|0.39756	0.583000|0.583000	0.36354|0.36354	5.682000|5.682000	0.68182|0.68182	2.350000|2.350000	0.79820|0.79820	0.467000|0.467000	0.42956|0.42956	CGA|TCG	TBC1D2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328367.1		-	ENST00000409931.3	Missense_Mutation	SNP	15 : 78322507 - 78322507 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	114	21
PAX8	7849	broad.mit.edu	37	2	114004419	114004419	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:114004419C>T	ENST00000429538.3	-	3	297	c.103G>A	c.(103-105)Gta>Ata	p.V35I	AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000422956.2_RNA|PAX8_ENST00000263335.7_Missense_Mutation_p.V35I|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000436293.2_RNA|PAX8_ENST00000348715.5_Missense_Mutation_p.V35I|AC016683.6_ENST00000553869.2_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.V35I|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000333145.5_RNA|PAX8_ENST00000397647.3_Missense_Mutation_p.V35I	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	35	Paired.				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						GCCAGGTCTACGATGCGCTGG	0.612		NA	T	PPARG	follicular thyroid		Thyroid dysgenesis							NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(188;7 2067 9084 29802 29892)		Dom	yes		2	2q12-q14	7849	paired box gene 8	yes	E	0			GRCh37	CM065372	PAX8	M							45	51	49			NA	NA	2		NA											NA				114004419		2139	4285	6424	SO:0001583	missense			X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618	7849	7849		Paired boxes, Homeoboxes / PRD class	8622	protein-coding gene	gene with protein product		167415	paired box gene 8		NA	8431641, 7981748	Standard		NM_003466	NA	Approved		uc010yxt.2	Q06710	OTTHUMG00000128529	ENST00000429538.3:c.103G>A	2.37:g.114004419C>T	ENSP00000395498:p.Val35Ile	NA	Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	37	CCDS46398.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965967	0.92855	.	.	ENSG00000125618	ENST00000263335;ENST00000397647;ENST00000348715;ENST00000429538;ENST00000263334	D;D;D;D;D	0.99483	-5.99;-5.99;-5.99;-5.99;-5.99	5.1	5.1	0.69264	Paired box protein, N-terminal (4);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99251	0.9739	L	0.48986	1.54	0.80722	D	1	P;D;D;D;D	0.89917	0.787;1.0;0.993;0.992;0.968	P;D;D;P;P	0.78314	0.613;0.991;0.96;0.566;0.767	D	0.99387	1.0924	10	0.87932	D	0	.	16.0313	0.80579	0.0:1.0:0.0:0.0	.	35;35;35;35;35	Q06710-2;Q06710-3;Q06710;Q06710-5;Q06710-4	.;.;PAX8_HUMAN;.;.	I	35	ENSP00000263335:V35I;ENSP00000380768:V35I;ENSP00000314750:V35I;ENSP00000395498:V35I;ENSP00000263334:V35I	ENSP00000263334:V35I	V	-	1	0	PAX8	113720889	1.000000	0.71417	0.996000	0.52242	0.810000	0.45777	7.763000	0.85283	2.382000	0.81193	0.655000	0.94253	GTA	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250353.5		-	ENST00000429538.3	Missense_Mutation	SNP	2 : 114004419 - 114004419 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	335	56
PLXNA1	5361	broad.mit.edu	37	3	126733350	126733350	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126733350C>T	ENST00000393409.2	+	12	2634	c.2634C>T	c.(2632-2634)ggC>ggT	p.G878G	PLXNA1_ENST00000251772.4_Silent_p.G855G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	878	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CGAGGCAGGGCGGCACGCGGC	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	43	42			NA	NA	3		NA											NA				126733350		2202	4299	6501	SO:0001819	synonymous_variant			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554	5361	5361		Plexins	9099	protein-coding gene	gene with protein product		601055		PLXN1	NA	8570614	Standard	NM_032242	NM_032242	NA	Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.2634C>T	3.37:g.126733350C>T		NA		37	CCDS33847.2																																																																																			PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356451.1		+	ENST00000393409.2	Silent	SNP	3 : 126733350 - 126733350 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	243	51
NRP2	8828	broad.mit.edu	37	2	206641143	206641143	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206641143G>A	ENST00000357118.4	+	16	2630	c.2599G>A	c.(2599-2601)Gat>Aat	p.D867N	NRP2_ENST00000540178.1_Intron|NRP2_ENST00000360409.3_Intron|NRP2_ENST00000412873.2_Intron|NRP2_ENST00000272849.3_Missense_Mutation_p.D872N|NRP2_ENST00000357785.5_Intron|NRP2_ENST00000540841.1_Intron	NM_201267.1	NP_957719	O60462	NRP2_HUMAN	neuropilin 2	0					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CAAGAAGACCGATCACTCCAT	0.632		NA									OREG0015157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	95	100			NA	NA	2		NA											NA				206641143		2203	4300	6503	SO:0001583	missense			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257	8828	8828			8005	protein-coding gene	gene with protein product		602070			NA	9529250, 9331348	Standard		NM_003872	NA	Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357118.4:c.2599G>A	2.37:g.206641143G>A	ENSP00000349632:p.Asp867Asn	2161	O14820|O14821|Q53TQ4|Q53TS3|Q9H2D4|Q9H2D5|Q9H2E3|Q9H2E4	37	CCDS46498.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818869	0.71028	.	.	ENSG00000118257	ENST00000357118;ENST00000272849	D;D	0.87571	-2.26;-2.27	5.56	5.56	0.83823	.	.	.	.	.	D	0.85656	0.5747	.	.	.	0.80722	D	1	B;B	0.27765	0.188;0.188	B;B	0.26693	0.072;0.072	D	0.83503	0.0076	8	0.66056	D	0.02	.	19.5306	0.95228	0.0:0.0:1.0:0.0	.	867;872	O60462-4;O60462-5	.;.	N	867;872	ENSP00000349632:D867N;ENSP00000272849:D872N	ENSP00000272849:D872N	D	+	1	0	NRP2	206349388	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	5.299000	0.65716	2.609000	0.88269	0.561000	0.74099	GAT	NRP2-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336465.1		+	ENST00000357118.4	Missense_Mutation	SNP	2 : 206641143 - 206641143 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	961	169
ANKRD11	29123	broad.mit.edu	37	16	89371699	89371699	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89371699G>A	ENST00000301030.4	-	4	601	c.141C>T	c.(139-141)ggC>ggT	p.G47G	ANKRD11_ENST00000567736.1_5'UTR|ANKRD11_ENST00000563291.1_Silent_p.G47G|ANKRD11_ENST00000378330.2_Silent_p.G47G	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	47						nucleus		p.G47G(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCTCCTTCCCGCCATCGCCAC	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)	endometrium(1)											67	65	66			NA	NA	16		NA											NA				89371699		2198	4300	6498	SO:0001819	synonymous_variant			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522	29123	29123		Ankyrin repeat domain containing	21316	protein-coding gene	gene with protein product		611192			NA	11483580	Standard	NM_013275	NM_001256182	NA	Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.141C>T	16.37:g.89371699G>A		NA	Q6NTG1|Q6QMF8	37	CCDS32513.1																																																																																			ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000430462.3		-	ENST00000301030.4	Silent	SNP	16 : 89371699 - 89371699 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	413	109
AMD1	262	broad.mit.edu	37	6	111213405	111213405	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111213405T>C	ENST00000368885.3	+	5	805	c.469T>C	c.(469-471)Tgg>Cgg	p.W157R	AMD1_ENST00000368876.1_Splice_Site_p.W88R|AMD1_ENST00000368882.3_Splice_Site_p.W9R|AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368877.5_Splice_Site_p.W128R	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	157					spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	TTCTGACTGTTGGTATGTTTA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													308	286	293			NA	NA	6		NA											NA				111213405		2203	4300	6503	SO:0001630	splice_region_variant			M88006	CCDS5086.1, CCDS75504.1, CCDS75505.1	6q21	2014-05-13			ENSG00000123505	ENSG00000123505	262	262	4.1.1.50		457	protein-coding gene	gene with protein product		180980	S-adenosylmethionine decarboxylase 1		NA		Standard		NM_001634	NA	Approved	SAMDC	uc003puk.1	P17707	OTTHUMG00000015369	ENST00000368885.3:c.470+1T>C	6.37:g.111213405T>C		NA	E1P5F7|Q5VXN6|Q9BWK4	37	CCDS5086.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248273	0.80024	.	.	ENSG00000123505	ENST00000368885;ENST00000368882;ENST00000368877;ENST00000368876	.	.	.	5.3	5.3	0.74995	S-adenosylmethionine decarboxylase, core (2);	0.000000	0.85682	D	0.000000	D	0.82563	0.5064	M	0.92219	3.285	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.953	D	0.86902	0.2055	9	0.66056	D	0.02	.	13.8004	0.63196	0.0:0.0:0.0:1.0	.	128;157	A6NNH3;P17707	.;DCAM_HUMAN	R	157;9;128;88	.	ENSP00000357870:W88R	W	+	1	0	AMD1	111320098	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.652000	0.83633	2.003000	0.58678	0.402000	0.26972	TGG	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041816.1	Missense_Mutation	+	ENST00000368885.3	Splice_Site	SNP	6 : 111213405 - 111213405 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1116	228
SGSM1	129049	broad.mit.edu	37	22	25251633	25251633	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25251633G>A	ENST00000400358.4	+	8	844	c.787G>A	c.(787-789)Gtt>Att	p.V263I	SGSM1_ENST00000400359.4_Missense_Mutation_p.V263I	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	263						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CAAAAACAACGTTCTTGTTCA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4026		0,0,2013	82	89	87		787,787,787,787	4.1	1	22		87	1,8363		0,1,4181	no	missense,missense,missense,missense	SGSM1	NM_001039948.2,NM_001098497.1,NM_001098498.1,NM_133454.2	29,29,29,29	0,1,6194	AA,AG,GG	NA	0.012,0.0,0.0081	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	263/1149,263/1094,263/1033,263/1088	25251633	1,12389	2013	4182	6195	SO:0001583	missense			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037	129049	129049		Small G protein signaling modulators	29410	protein-coding gene	gene with protein product		611417	RUN and TBC1 domain containing 2	RUTBC2	NA	11853319, 17509819, 22637480	Standard	XM_059318	NM_133454	NA	Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400358.4:c.787G>A	22.37:g.25251633G>A	ENSP00000383211:p.Val263Ile	NA	A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|Q5TFL3|Q8TF60	37	CCDS46675.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140086	0.77775	0.0	1.2E-4	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.19669	2.17;2.13	4.05	4.05	0.47172	.	0.058022	0.64402	N	0.000002	T	0.50820	0.1638	M	0.85859	2.78	0.80722	D	1	P;D;D;P;D	0.89917	0.917;0.999;1.0;0.955;0.985	B;D;D;B;D	0.91635	0.357;0.99;0.999;0.332;0.939	T	0.61749	-0.6999	10	0.87932	D	0	-25.9808	15.5962	0.76583	0.0:0.0:1.0:0.0	.	263;238;396;263;238	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1;B9A6J4	.;.;.;SGSM1_HUMAN;.	I	238;263;263	ENSP00000383211:V263I;ENSP00000383212:V263I	ENSP00000383211:V263I	V	+	1	0	SGSM1	23581633	1.000000	0.71417	0.989000	0.46669	0.954000	0.61252	9.711000	0.98735	1.982000	0.57802	0.478000	0.44815	GTT	SGSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320279.1		+	ENST00000400358.4	Missense_Mutation	SNP	22 : 25251633 - 25251633 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	237	40
DENND2A	27147	broad.mit.edu	37	7	140302109	140302109	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140302109T>C	ENST00000275884.6	-	2	506	c.89A>G	c.(88-90)aAc>aGc	p.N30S	DENND2A_ENST00000496613.1_Missense_Mutation_p.N30S|DENND2A_ENST00000492720.1_Missense_Mutation_p.N30S|DENND2A_ENST00000537639.1_Missense_Mutation_p.N30S			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	30										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TGGGCAAGGGTTCTGAACACC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	116	119			NA	NA	7		NA											NA				140302109		1955	4161	6116	SO:0001583	missense			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966	27147	27147		DENN/MADD domain containing	22212	protein-coding gene	gene with protein product			KIAA1277	KIAA1277	NA		Standard	NM_015689	NM_015689	NA	Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.89A>G	7.37:g.140302109T>C	ENSP00000275884:p.Asn30Ser	NA	C9JUI3|Q1RMD5|Q86XY0	37	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	T	10.34	1.324022	0.24080	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720;ENST00000491728;ENST00000489552;ENST00000477488	T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	4.91	-2.35	0.06684	.	0.760646	0.11806	N	0.527668	T	0.60958	0.2309	L	0.36672	1.1	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.12156	0.007;0.002	T	0.42292	-0.9460	10	0.18276	T	0.48	-8.5843	5.9459	0.19219	0.0:0.2146:0.371:0.4144	.	30;30	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	S	30	ENSP00000275884:N30S;ENSP00000442245:N30S;ENSP00000419654:N30S;ENSP00000419464:N30S;ENSP00000418844:N30S;ENSP00000418088:N30S	ENSP00000275884:N30S	N	-	2	0	DENND2A	139948578	0.001000	0.12720	0.001000	0.08648	0.146000	0.21551	-0.537000	0.06128	-0.572000	0.06006	0.533000	0.62120	AAC	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348742.1		-	ENST00000275884.6	Missense_Mutation	SNP	7 : 140302109 - 140302109 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	445	78
PPAN-P2RY11	692312	broad.mit.edu	37	19	10224727	10224727	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10224727C>A	ENST00000428358.1	+	0	1932				P2RY11_ENST00000321826.4_Silent_p.A146A|PPAN-P2RY11_ENST00000393796.4_Silent_p.A566A|PPAN_ENST00000556468.1_Silent_p.A566A	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN	PPAN-P2RY11 readthrough	NA					RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CCAAGCACGCCTGGGCCGTGA	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	46	47			NA	NA	19		NA											NA				10224727		2203	4300	6503	SO:0001624	3_prime_UTR_variant			AJ300588	CCDS42498.1, CCDS56082.1	19p13.2	2009-09-17			ENSG00000243207	ENSG00000243207	692312	692312			33526	other	readthrough					NA		Standard	NM_001040664	NM_001040664	NA	Approved		uc002mna.3		OTTHUMG00000150165	ENST00000428358.1:c.*197C>A	19.37:g.10224727C>A		NA	Q9BW97|Q9H170	37	CCDS56082.1																																																																																			PPAN-P2RY11-002	NOVEL	basic|readthrough_transcript|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345524.1		+	ENST00000428358.1	3'UTR	SNP	19 : 10224727 - 10224727 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	348	49
FAM84A	151354	broad.mit.edu	37	2	14774452	14774452	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:14774452C>A	ENST00000295092.2	+	2	637	c.349C>A	c.(349-351)Cca>Aca	p.P117T	FAM84A_ENST00000331243.4_Missense_Mutation_p.P117T	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	117										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			CACCGCGCTGCCAGCGCTCTG	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													7	9	8			NA	NA	2		NA											NA				14774452		2143	4188	6331	SO:0001583	missense			AJ417080, BC026346	CCDS1684.1	2p24.3	2005-08-09			ENSG00000162981	ENSG00000162981	151354	151354			20743	protein-coding gene	gene with protein product	neurological/sensory 1	611234			NA	14702039	Standard	NM_145175	NM_145175	NA	Approved	NSE1, FLJ35392	uc002rbz.2	Q96KN4	OTTHUMG00000119093	ENST00000295092.2:c.349C>A	2.37:g.14774452C>A	ENSP00000295092:p.Pro117Thr	NA	A6NP76|Q86UZ2|Q8NAH7|Q8TAM5	37	CCDS1684.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.02|19.02	3.745272|3.745272	0.69418|0.69418	.|.	.|.	ENSG00000162981|ENSG00000162981	ENST00000540701|ENST00000295092;ENST00000331243;ENST00000359969	.|T;T	.|0.03635	.|3.86;3.86	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	.|0.064498	.|0.64402	.|D	.|0.000007	T|T	0.06962|0.06962	0.0177|0.0177	L|L	0.43152|0.43152	1.355|1.355	0.39240|0.39240	D|D	0.963845|0.963845	.|P	.|0.49447	.|0.924	.|P	.|0.49597	.|0.616	T|T	0.16689|0.16689	-1.0394|-1.0394	6|10	0.87932|0.52906	D|T	0|0.07	-20.9794|-20.9794	11.112|11.112	0.48239|0.48239	0.0:0.9147:0.0:0.0853|0.0:0.9147:0.0:0.0853	.|.	.|117	.|Q96KN4	.|FA84A_HUMAN	D|T	24|117	.|ENSP00000295092:P117T;ENSP00000330681:P117T	ENSP00000443261:A24D|ENSP00000295092:P117T	A|P	+|+	2|1	0|0	FAM84A|FAM84A	14691903|14691903	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.210000|3.210000	0.51129|0.51129	2.426000|2.426000	0.82243|0.82243	0.655000|0.655000	0.94253|0.94253	GCC|CCA	FAM84A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239308.2		+	ENST00000295092.2	Missense_Mutation	SNP	2 : 14774452 - 14774452 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	93	18
ANKRD13C	81573	broad.mit.edu	37	1	70742526	70742526	+	Splice_Site	SNP	G	G	A	rs141273386		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70742526G>A	ENST00000370944.4	-	10	1530	c.1217C>T	c.(1216-1218)cCg>cTg	p.P406L	ANKRD13C_ENST00000262346.6_Splice_Site_p.P371L|ANKRD13C_ENST00000464236.1_5'UTR	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	406					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						TCTTCGAATCGGCTGCCAAAA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	52	50			NA	NA	1		NA											NA				70742526		2203	4298	6501	SO:0001630	splice_region_variant				CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454	81573	81573		Ankyrin repeat domain containing	25374	protein-coding gene	gene with protein product		615125			NA	11230166	Standard	NM_030816	NM_030816	NA	Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.1216-1C>T	1.37:g.70742526G>A		NA	B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	37	CCDS648.2	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958445	0.53400	.	.	ENSG00000118454	ENST00000370944;ENST00000262346	T;T	0.42513	0.97;0.97	4.76	4.76	0.60689	.	0.048245	0.85682	D	0.000000	T	0.25419	0.0618	L	0.55990	1.75	0.80722	D	1	P;B	0.36282	0.546;0.387	B;B	0.32928	0.096;0.155	T	0.06789	-1.0807	10	0.22109	T	0.4	.	18.2515	0.90005	0.0:0.0:1.0:0.0	.	371;406	Q8N6S4-2;Q8N6S4	.;AN13C_HUMAN	L	406;371	ENSP00000359982:P406L;ENSP00000262346:P371L	ENSP00000262346:P371L	P	-	2	0	ANKRD13C	70515114	1.000000	0.71417	0.846000	0.33378	0.642000	0.38348	8.934000	0.92915	2.564000	0.86499	0.563000	0.77884	CCG	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025903.1	Missense_Mutation	-	ENST00000370944.4	Splice_Site	SNP	1 : 70742526 - 70742526 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	218	38
PCDHGC5	56097	broad.mit.edu	37	5	140870737	140870737	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140870737G>A	ENST00000252087.1	+	1	1930	c.1930G>A	c.(1930-1932)Gtg>Atg	p.V644M	PCDHGA12_ENST00000252085.3_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	644	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCCAGCAGGTGGTGGTCCT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	79	81			NA	NA	5		NA											NA				140870737		2203	4300	6503	SO:0001583	missense			AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764	56097	56097		Cadherins / Protocadherins : Clustered	8718	other	protocadherin		606306			NA	10380929	Standard	NM_018929	NM_018929	NA	Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.1930G>A	5.37:g.140870737G>A	ENSP00000252087:p.Val644Met	NA	Q9Y5C2	37	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477826	0.44044	.	.	ENSG00000240764	ENST00000252087	T	0.21543	2.0	5.3	5.3	0.74995	Cadherin (4);Cadherin-like (1);	0.000000	0.48767	D	0.000173	T	0.30978	0.0782	L	0.49350	1.555	0.30895	N	0.729866	D;P	0.56521	0.976;0.939	P;P	0.56563	0.779;0.801	T	0.30357	-0.9981	10	0.87932	D	0	.	8.2092	0.31473	0.083:0.2734:0.6435:0.0	.	644;644	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	M	644	ENSP00000252087:V644M	ENSP00000252087:V644M	V	+	1	0	PCDHGC5	140850921	0.453000	0.25721	1.000000	0.80357	0.994000	0.84299	1.513000	0.35823	2.753000	0.94483	0.655000	0.94253	GTG	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251819.1		+	ENST00000252087.1	Missense_Mutation	SNP	5 : 140870737 - 140870737 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	66
UFSP2	55325	broad.mit.edu	37	4	186329507	186329507	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186329507C>T	ENST00000264689.6	-	8	1030	c.914G>A	c.(913-915)cGa>cAa	p.R305Q		NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	305						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		CTGCAGAGATCGATAAGCACA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	117	122			NA	NA	4		NA											NA				186329507		2203	4300	6503	SO:0001583	missense			AK002062	CCDS3842.1	4q35.1	2008-03-25	2008-03-25	2008-03-25	ENSG00000109775	ENSG00000109775	55325	55325			25640	protein-coding gene	gene with protein product		611482	chromosome 4 open reading frame 20	C4orf20	NA	17182609	Standard	NM_018359	NM_018359	NA	Approved	FLJ11200	uc003ixo.2	Q9NUQ7	OTTHUMG00000160441	ENST00000264689.6:c.914G>A	4.37:g.186329507C>T	ENSP00000264689:p.Arg305Gln	NA	Q6IA77|Q96FS3	37	CCDS3842.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.235189|5.235189	0.95207|0.95207	.|.	.|.	ENSG00000109775|ENSG00000109775	ENST00000509180|ENST00000264689	.|T	.|0.41400	.|1.0	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79287|0.79287	0.4420|0.4420	H|H	0.97611|0.97611	4.04|4.04	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	D|D	0.85593|0.85593	0.1247|0.1247	5|10	.|0.87932	.|D	.|0	-8.9285|-8.9285	20.5568|20.5568	0.99304|0.99304	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|305;205	.|Q9NUQ7;B3KRI4	.|UFSP2_HUMAN;.	N|Q	34|305	.|ENSP00000264689:R305Q	.|ENSP00000264689:R305Q	D|R	-|-	1|2	0|0	UFSP2|UFSP2	186566501|186566501	1.000000|1.000000	0.71417|0.71417	0.041000|0.041000	0.18516|0.18516	0.712000|0.712000	0.41017|0.41017	7.478000|7.478000	0.81082|0.81082	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GAT|CGA	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360589.2		-	ENST00000264689.6	Missense_Mutation	SNP	4 : 186329507 - 186329507 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	449	39
FLRT3	23767	broad.mit.edu	37	20	14306234	14306234	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:14306234C>T	ENST00000378053.3	-	2	2175	c.1919G>A	c.(1918-1920)gGt>gAt	p.G640D	FLRT3_ENST00000341420.4_Missense_Mutation_p.G640D|MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	640					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		GTCTGGAATACCACTGTCTCT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													306	261	277			NA	NA	20		NA											NA				14306234		2203	4300	6503	SO:0001583	missense			AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848	23767	23767		Fibronectin type III domain containing	3762	protein-coding gene	gene with protein product		604808			NA	10644439	Standard	NM_013281	NM_198391	NA	Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.1919G>A	20.37:g.14306234C>T	ENSP00000367292:p.Gly640Asp	NA	D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	37	CCDS13121.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.006577	0.54361	.	.	ENSG00000125848	ENST00000378053;ENST00000341420	T;T	0.62788	0.0;0.0	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.78039	0.4221	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.70487	0.969	T	0.76796	-0.2827	10	0.66056	D	0.02	-12.6026	20.8598	0.99761	0.0:1.0:0.0:0.0	.	640	Q9NZU0	FLRT3_HUMAN	D	640	ENSP00000367292:G640D;ENSP00000339912:G640D	ENSP00000339912:G640D	G	-	2	0	FLRT3	14254234	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	5.999000	0.70665	2.937000	0.99478	0.650000	0.86243	GGT	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078075.1		-	ENST00000378053.3	Missense_Mutation	SNP	20 : 14306234 - 14306234 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	626	20
HERPUD1	9709	broad.mit.edu	37	16	56977193	56977193	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56977193C>T	ENST00000439977.2	+	8	1364	c.1167C>T	c.(1165-1167)atC>atT	p.I389I	HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000344114.4_Silent_p.I230I|HERPUD1_ENST00000379792.2_Silent_p.I364I|HERPUD1_ENST00000300302.5_Silent_p.I388I	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	389						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						CCCCAGCCATCGCAAACTGAT	0.522		NA	T	ERG	prostate									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		16	16q12.2-q13	9709	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1		E	0													188	181	183			NA	NA	16		NA											NA				56977193		2198	4300	6498	SO:0001819	synonymous_variant			AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108	9709	9709			13744	protein-coding gene	gene with protein product		608070			NA	10922362, 10708769	Standard		NM_001010989	NA	Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.1167C>T	16.37:g.56977193C>T		NA	O60644|Q6IAN8|Q96D92	37	CCDS10771.1																																																																																			HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257056.5		+	ENST00000439977.2	Silent	SNP	16 : 56977193 - 56977193 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	996	215
PITPNM1	9600	broad.mit.edu	37	11	67260478	67260478	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67260478G>A	ENST00000436757.2	-	23	3613	c.3395C>T	c.(3394-3396)gCg>gTg	p.A1132V	PITPNM1_ENST00000534749.1_Missense_Mutation_p.A1133V|PITPNM1_ENST00000356404.3_Missense_Mutation_p.A1133V			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	1133					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CCCCAGCGCCGCGTATACAGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(28;144 709 4607 5525)							NA				0													94	103	100			NA	NA	11		NA											NA				67260478		2200	4295	6495	SO:0001583	missense			X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697	9600	9600			9003	protein-coding gene	gene with protein product	PYK2 N-terminal domain-interacting receptor 2, retinal degeneration B alpha 1	608794		PITPNM	NA	9680295	Standard	NM_004910	NM_004910	NA	Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000436757.2:c.3395C>T	11.37:g.67260478G>A	ENSP00000398787:p.Ala1132Val	NA	A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	37	CCDS44659.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.567459	0.28003	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.77750	-1.12;-1.12;-1.12	4.71	2.63	0.31362	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.443249	0.19271	N	0.118403	T	0.67477	0.2897	L	0.50333	1.59	0.18873	N	0.999988	P;P	0.48503	0.911;0.91	B;B	0.35413	0.169;0.202	T	0.63323	-0.6663	10	0.66056	D	0.02	-16.6914	11.7009	0.51571	0.0:0.4955:0.5045:0.0	.	1132;1133	O00562-2;O00562	.;PITM1_HUMAN	V	1133;1132;1133	ENSP00000437286:A1133V;ENSP00000398787:A1132V;ENSP00000348772:A1133V	ENSP00000348772:A1133V	A	-	2	0	PITPNM1	67017054	0.279000	0.24239	0.027000	0.17364	0.105000	0.19272	0.620000	0.24403	1.143000	0.42306	-0.218000	0.12543	GCG	PITPNM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395521.1		-	ENST00000436757.2	Missense_Mutation	SNP	11 : 67260478 - 67260478 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1232	170
ITM2B	9445	broad.mit.edu	37	13	48832293	48832293	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:48832293A>C	ENST00000378549.5	+	3	404				ITM2B_ENST00000378565.5_Missense_Mutation_p.D162A			Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	NA					nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		CTTAACCTGGATAAGTGCTAT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	147	152			NA	NA	13		NA											NA				48832293		2203	4300	6503	SO:0001627	intron_variant			AF092128	CCDS9409.1	13q14.2	2012-10-10			ENSG00000136156	ENSG00000136156	9445	9445		BRICHOS domain containing	6174	protein-coding gene	gene with protein product	BRICHOS domain containing 2B	603904			NA	9795190	Standard	NM_021999	NM_021999	NA	Approved	BRI, E25B, E3-16, BRICD2B	uc001vbz.3	Q9Y287	OTTHUMG00000016894	ENST00000378549.5:c.247-640A>C	13.37:g.48832293A>C		NA	Q9NYH1	37		.	.	.	.	.	.	.	.	.	.	A	28.2	4.897934	0.91962	.	.	ENSG00000136156	ENST00000378565	T	0.78924	-1.22	5.84	5.84	0.93424	BRICHOS (2);	0.187411	0.56097	D	0.000029	D	0.84243	0.5429	M	0.62723	1.935	0.80722	D	1	P	0.52170	0.951	P	0.58660	0.843	D	0.84274	0.0490	10	0.45353	T	0.12	-7.6342	15.4071	0.74887	1.0:0.0:0.0:0.0	.	162	Q9Y287	ITM2B_HUMAN	A	162	ENSP00000367828:D162A	ENSP00000367828:D162A	D	+	2	0	ITM2B	47730294	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.285000	0.65633	2.230000	0.72887	0.528000	0.53228	GAT	ITM2B-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000044872.1		+	ENST00000378549.5	Intron	SNP	13 : 48832293 - 48832293 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	471	72
FRS3	10817	broad.mit.edu	37	6	41738730	41738730	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41738730G>A	ENST00000373018.3	-	7	1357	c.1106C>T	c.(1105-1107)cCa>cTa	p.P369L	FRS3_ENST00000259748.2_Missense_Mutation_p.P369L	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	369					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTGCAGTGGGGTCTCGTC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	46	46			NA	NA	6		NA											NA				41738730		2202	4299	6501	SO:0001583	missense			AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218	10817	10817			16970	protein-coding gene	gene with protein product		607744			NA	8761293, 9660748	Standard	NM_006653	NM_006653	NA	Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.1106C>T	6.37:g.41738730G>A	ENSP00000362109:p.Pro369Leu	NA	Q5T3D5	37	CCDS4860.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099895	0.56183	.	.	ENSG00000137218	ENST00000373018;ENST00000259748	T;T	0.23950	1.88;1.88	5.76	5.76	0.90799	.	0.099722	0.64402	D	0.000001	T	0.40932	0.1137	M	0.62723	1.935	0.80722	D	1	D	0.69078	0.997	P	0.61874	0.895	T	0.18555	-1.0333	10	0.66056	D	0.02	-21.6613	19.5656	0.95391	0.0:0.0:1.0:0.0	.	369	O43559	FRS3_HUMAN	L	369	ENSP00000362109:P369L;ENSP00000259748:P369L	ENSP00000259748:P369L	P	-	2	0	FRS3	41846708	1.000000	0.71417	0.965000	0.40720	0.981000	0.71138	3.630000	0.54273	2.728000	0.93425	0.655000	0.94253	CCA	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040532.2		-	ENST00000373018.3	Missense_Mutation	SNP	6 : 41738730 - 41738730 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	639	106
WSCD1	23302	broad.mit.edu	37	17	5991326	5991326	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5991326C>A	ENST00000574946.1	+	3	834	c.444C>A	c.(442-444)tgC>tgA	p.C148*	WSCD1_ENST00000573634.1_Nonsense_Mutation_p.C32*|WSCD1_ENST00000574232.1_Nonsense_Mutation_p.C148*|WSCD1_ENST00000317744.5_Nonsense_Mutation_p.C148*|WSCD1_ENST00000539421.1_Nonsense_Mutation_p.C148*			Q658N2	WSCD1_HUMAN	WSC domain containing 1	148	WSC 1.					integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						ACATTGGATGCTTCAGTGACG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	122	129			NA	NA	17		NA											NA				5991326		2203	4300	6503	SO:0001587	stop_gained				CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314	23302	23302			29060	protein-coding gene	gene with protein product					NA		Standard	NM_015253	XM_005256572	NA	Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.444C>A	17.37:g.5991326C>A	ENSP00000460825:p.Cys148*	NA	A8K0N8|D3DTM3|O60276|Q96G45	37	CCDS32538.1	.	.	.	.	.	.	.	.	.	.	C	34	5.311578	0.95655	.	.	ENSG00000179314	ENST00000317744;ENST00000539421	.	.	.	5.97	0.48	0.16804	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-34.1992	5.589	0.17291	0.0:0.5469:0.1346:0.3186	.	.	.	.	X	148	.	ENSP00000323087:C148X	C	+	3	2	WSCD1	5932050	0.993000	0.37304	0.990000	0.47175	0.070000	0.16714	0.321000	0.19558	0.098000	0.17522	-0.140000	0.14226	TGC	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438965.4		+	ENST00000574946.1	Nonsense_Mutation	SNP	17 : 5991326 - 5991326 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	468	21
SLC28A1	9154	broad.mit.edu	37	15	85447402	85447402	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85447402T>G	ENST00000286749.3	+	6	626	c.536T>G	c.(535-537)cTg>cGg	p.L179R	SLC28A1_ENST00000537216.1_Missense_Mutation_p.L179R|SLC28A1_ENST00000538177.1_Missense_Mutation_p.L179R|SLC28A1_ENST00000537703.1_Missense_Mutation_p.L101R|SLC28A1_ENST00000537624.1_Missense_Mutation_p.L179R|SLC28A1_ENST00000394573.1_Missense_Mutation_p.L179R			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	179					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCTGAGCAACTGGTGTCCTTC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	149	159			NA	NA	15		NA											NA				85447402		2203	4299	6502	SO:0001583	missense			U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222	9154	9154		Solute carriers	11001	protein-coding gene	gene with protein product		606207	solute carrier family 28 (sodium-coupled nucleoside transporter), member 1		NA	9124315	Standard		NM_004213	NA	Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.536T>G	15.37:g.85447402T>G	ENSP00000286749:p.Leu179Arg	NA	A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	37	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	T	12.49	1.953784	0.34471	.	.	ENSG00000156222	ENST00000537216;ENST00000538177;ENST00000537624;ENST00000286749;ENST00000394573;ENST00000537703	T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64	4.38	3.26	0.37387	.	0.000000	0.85682	D	0.000000	T	0.52917	0.1764	M	0.83384	2.64	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.998;0.999;0.993;1.0	T	0.53208	-0.8471	10	0.87932	D	0	-0.008	6.4798	0.22057	0.0:0.1088:0.0:0.8912	.	179;179;179;101;179	B7Z533;F5H560;B7Z3L6;B7Z3M4;O00337	.;.;.;.;S28A1_HUMAN	R	179;179;179;179;179;101	ENSP00000440546:L179R;ENSP00000443752:L179R;ENSP00000444700:L179R;ENSP00000286749:L179R;ENSP00000378074:L179R;ENSP00000443764:L101R	ENSP00000286749:L179R	L	+	2	0	SLC28A1	83248406	1.000000	0.71417	0.990000	0.47175	0.008000	0.06430	5.495000	0.66912	0.753000	0.32945	-0.256000	0.11100	CTG	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000308998.2		+	ENST00000286749.3	Missense_Mutation	SNP	15 : 85447402 - 85447402 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	490	12
PLA2R1	22925	broad.mit.edu	37	2	160825793	160825793	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160825793C>T	ENST00000283243.7	-	19	2944	c.2738G>A	c.(2737-2739)aGa>aAa	p.R913K	PLA2R1_ENST00000392771.1_Missense_Mutation_p.R913K	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	913	C-type lectin 5.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AAAGCCACATCTCTGGCTCTG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	111	113			NA	NA	2		NA											NA				160825793		2203	4300	6503	SO:0001583	missense			U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246	NA	22925		C-type lectin domain containing	9042	protein-coding gene	gene with protein product		604939	phospholipase A2 receptor 1, 180kD		NA	7721806, 7925459	Standard		NM_007366	NA	Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.2738G>A	2.37:g.160825793C>T	ENSP00000283243:p.Arg913Lys	NA	B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	37	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735320	0.48939	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.17370	2.28;2.28	5.8	4.91	0.64330	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.114213	0.64402	D	0.000014	T	0.12347	0.0300	L	0.43757	1.38	0.30810	N	0.738909	B;B;B	0.24618	0.037;0.107;0.051	B;B;B	0.27608	0.038;0.028;0.081	T	0.23084	-1.0198	10	0.05525	T	0.97	.	8.1578	0.31180	0.0:0.7566:0.1605:0.083	.	913;913;913	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	K	913	ENSP00000283243:R913K;ENSP00000376524:R913K	ENSP00000283243:R913K	R	-	2	0	PLA2R1	160534039	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.503000	0.35715	1.415000	0.47037	0.650000	0.86243	AGA	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333820.1		-	ENST00000283243.7	Missense_Mutation	SNP	2 : 160825793 - 160825793 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	332	25
GTF3C3	9330	broad.mit.edu	37	2	197654005	197654005	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197654005A>G	ENST00000263956.3	-	6	905	c.816T>C	c.(814-816)gaT>gaC	p.D272D	GTF3C3_ENST00000409364.3_Silent_p.D272D|GTF3C3_ENST00000470386.1_5'UTR	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	272						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GCCTATAACCATCCATGGCCA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	107	111			NA	NA	2		NA											NA				197654005		2203	4300	6503	SO:0001819	synonymous_variant			AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041	9330	9330		General transcription factors, Tetratricopeptide (TTC) repeat domain containing	4666	protein-coding gene	gene with protein product		604888	general transcription factor IIIC, polypeptide 3 (102kD)		NA	10373544	Standard		NM_001206774	NA	Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.816T>C	2.37:g.197654005A>G		NA	Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	37	CCDS2316.1																																																																																			GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256104.1		-	ENST00000263956.3	Silent	SNP	2 : 197654005 - 197654005 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	353	94
CDC37L1	55664	broad.mit.edu	37	9	4684890	4684890	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4684890G>A	ENST00000381854.3	+	2	348	c.146G>A	c.(145-147)gGa>gAa	p.G49E	CDC37L1_ENST00000381858.1_Missense_Mutation_p.G49E|CDC37L1_ENST00000479095.1_3'UTR	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1	49	Self-association.					cytoplasm				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		TATAGCCATGGAATTGAATTG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	83	84			NA	NA	9		NA											NA				4684890		2203	4300	6503	SO:0001583	missense			AK000497	CCDS6454.1	9p24.1	2013-01-17	2013-01-17		ENSG00000106993	ENSG00000106993	55664	55664			17179	protein-coding gene	gene with protein product		610346	CDC37 cell division cycle 37 homolog (S. cerevisiae)-like 1, cell division cycle 37 homolog (S. cerevisiae)-like 1		NA		Standard	NM_017913	NM_017913	NA	Approved	HARC, FLJ20639, CDC37B	uc003zio.3	Q7L3B6	OTTHUMG00000019465	ENST00000381854.3:c.146G>A	9.37:g.4684890G>A	ENSP00000371278:p.Gly49Glu	NA	B1AL70|Q9NWS3|Q9NX16	37	CCDS6454.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.574054	0.28092	.	.	ENSG00000106993	ENST00000381858;ENST00000381854	T;T	0.41065	1.01;1.02	5.86	3.05	0.35203	.	0.544665	0.20087	N	0.099523	T	0.22704	0.0548	N	0.14661	0.345	0.34232	D	0.676602	B	0.02656	0.0	B	0.04013	0.001	T	0.22452	-1.0216	10	0.12103	T	0.63	-2.6289	10.5014	0.44808	0.2599:0.0:0.7401:0.0	.	49	Q7L3B6	CD37L_HUMAN	E	49	ENSP00000371282:G49E;ENSP00000371278:G49E	ENSP00000371278:G49E	G	+	2	0	CDC37L1	4674890	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	2.529000	0.45632	0.825000	0.34637	0.563000	0.77884	GGA	CDC37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051564.1		+	ENST00000381854.3	Missense_Mutation	SNP	9 : 4684890 - 4684890 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	251	43
IMPG1	3617	broad.mit.edu	37	6	76744474	76744474	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76744474C>T	ENST00000369950.3	-	3	521	c.332G>A	c.(331-333)cGg>cAg	p.R111Q	IMPG1_ENST00000369963.3_Missense_Mutation_p.R33Q	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	111					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	p.R111Q(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CAGAAAGATCCGATATGCTTC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(37;839 1141 2599 26037)							NA				1	Substitution - Missense(1)	large_intestine(1)											92	83	86			NA	NA	6		NA											NA				76744474		2203	4300	6503	SO:0001583	missense			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706	3617	3617			6055	protein-coding gene	gene with protein product		602870	sialoprotein associated with cones and rods	SPACR	NA		Standard	NM_001563	NM_001282368	NA	Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.332G>A	6.37:g.76744474C>T	ENSP00000358966:p.Arg111Gln	NA	A6NNZ6|O43686|O95094|Q9BWZ1	37	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	C	36	5.711068	0.96821	.	.	ENSG00000112706	ENST00000369950;ENST00000369963	T;T	0.81163	-1.34;-1.46	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000016	D	0.89382	0.6699	M	0.80982	2.52	0.53688	D	0.999976	D	0.89917	1.0	D	0.85130	0.997	D	0.88377	0.2999	9	.	.	.	.	19.9944	0.97379	0.0:1.0:0.0:0.0	.	111	Q17R60	IMPG1_HUMAN	Q	111;33	ENSP00000358966:R111Q;ENSP00000358980:R33Q	.	R	-	2	0	IMPG1	76801194	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.076000	0.50081	2.720000	0.93068	0.557000	0.71058	CGG	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041288.1		-	ENST00000369950.3	Missense_Mutation	SNP	6 : 76744474 - 76744474 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	60
TMEM171	134285	broad.mit.edu	37	5	72419582	72419582	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:72419582G>A	ENST00000454765.2	+	2	855	c.382G>A	c.(382-384)Gtc>Atc	p.V128I	TMEM171_ENST00000287773.5_Missense_Mutation_p.V128I			Q8WVE6	TM171_HUMAN	transmembrane protein 171	128						integral to membrane				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		GCTCATCAGCGTCCTGGGCAT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(112;638 2280 27369 30736)							NA				0													125	128	127			NA	NA	5		NA											NA				72419582		2203	4300	6503	SO:0001583	missense			BC018083	CCDS4017.1, CCDS54869.1	5q13.2	2008-02-05			ENSG00000157111	ENSG00000157111	134285	134285			27031	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_173490	NM_173490	NA	Approved	PRP2	uc003kcm.2	Q8WVE6	OTTHUMG00000131269	ENST00000454765.2:c.382G>A	5.37:g.72419582G>A	ENSP00000415030:p.Val128Ile	NA	Q8N0S1|Q8TDT7	37	CCDS4017.1	.	.	.	.	.	.	.	.	.	.	G	6.690	0.495841	0.12762	.	.	ENSG00000157111	ENST00000454765;ENST00000287773	T;T	0.20598	2.06;2.06	5.34	-0.15	0.13416	.	0.544274	0.17336	N	0.177912	T	0.08980	0.0222	N	0.08118	0	0.26141	N	0.980273	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.004	T	0.37663	-0.9696	10	0.12766	T	0.61	-2.5931	11.1458	0.48430	0.381:0.0:0.619:0.0	.	128;128	Q8WVE6-2;Q8WVE6	.;TM171_HUMAN	I	128	ENSP00000415030:V128I;ENSP00000287773:V128I	ENSP00000287773:V128I	V	+	1	0	TMEM171	72455338	0.001000	0.12720	0.681000	0.30009	0.911000	0.54048	-0.538000	0.06120	-0.008000	0.14320	0.455000	0.32223	GTC	TMEM171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254037.2		+	ENST00000454765.2	Missense_Mutation	SNP	5 : 72419582 - 72419582 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	758	126
TPO	7173	broad.mit.edu	37	2	1497599	1497599	+	Silent	SNP	C	C	T	rs141377851	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1497599C>T	ENST00000345913.4	+	11	1885	c.1794C>T	c.(1792-1794)tgC>tgT	p.C598C	TPO_ENST00000382198.1_Silent_p.C425C|TPO_ENST00000337415.3_Silent_p.C598C|TPO_ENST00000346956.3_Silent_p.C598C|TPO_ENST00000329066.4_Silent_p.C598C|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382201.3_Silent_p.C541C|TPO_ENST00000349624.3_Silent_p.C425C	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	598					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)	GGGAGTTCTGCGGCCTGCCTC	0.577		NA											C	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	4e-04	SNP								NA				0								C	,,,,,	22,4384	29.9+/-59.1	1,20,2182	51	47	49		1794,1794,1623,1623,1794,1275	-6.8	0	2	dbSNP_134	49	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	,,,,,	1,20,6482	TT,TC,CC	NA	0.0,0.4993,0.1692	,,,,,	598/934,598/934,541/877,541/877,598/890,425/761	1497599	22,12984	2203	4300	6503	SO:0001819	synonymous_variant				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.1794C>T	2.37:g.1497599C>T		NA	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	37	CCDS1643.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.275	-0.990244	0.02162	0.004993	0.0	ENSG00000115705	ENST00000446278	.	.	.	4.84	-6.83	0.01693	.	.	.	.	.	T	0.63200	0.2491	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66752	-0.5844	4	.	.	.	-32.4367	16.0715	0.80940	0.0:0.2598:0.0:0.7402	.	.	.	.	V	73	.	.	A	+	2	0	TPO	1476606	0.956000	0.32656	0.002000	0.10522	0.008000	0.06430	0.013000	0.13310	-1.368000	0.02149	-1.300000	0.01332	GCG	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206594.2		+	ENST00000345913.4	Silent	SNP	2 : 1497599 - 1497599 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	206	12
GTF3C1	2975	broad.mit.edu	37	16	27500951	27500951	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27500951G>A	ENST00000356183.4	-	20	3280	c.3265C>T	c.(3265-3267)Cgc>Tgc	p.R1089C	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1089C	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1089						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCGCACTTGCGCTCCAGGTTG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	69	87			NA	NA	16		NA											NA				27500951		2197	4300	6497	SO:0001583	missense			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235	2975	2975		General transcription factors	4664	protein-coding gene	gene with protein product		603246	general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )		NA	8164661, 8127861	Standard	NM_001520	NM_001520	NA	Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.3265C>T	16.37:g.27500951G>A	ENSP00000348510:p.Arg1089Cys	NA	B2RP21|Q12838|Q6DKN9|Q9Y4W9	37	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552817	0.86127	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.26373	1.74	5.05	5.05	0.67936	.	0.257040	0.39475	N	0.001348	T	0.49474	0.1559	M	0.70595	2.14	0.58432	D	0.999997	D;D	0.89917	0.999;1.0	P;D	0.65874	0.8;0.939	T	0.52852	-0.8520	10	0.72032	D	0.01	.	16.2195	0.82251	0.0:0.0:1.0:0.0	.	1089;1089	Q12789;Q12789-3	TF3C1_HUMAN;.	C	1089;1087	ENSP00000348510:R1089C	ENSP00000348510:R1089C	R	-	1	0	GTF3C1	27408452	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.005000	0.57075	2.351000	0.79841	0.655000	0.94253	CGC	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000433856.1		-	ENST00000356183.4	Missense_Mutation	SNP	16 : 27500951 - 27500951 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	116	22
LRRC14	9684	broad.mit.edu	37	8	145745329	145745329	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145745329G>A	ENST00000292524.1	+	2	366	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	LRRC14_ENST00000529022.1_Missense_Mutation_p.A74T	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	74										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTGCAGCCGTGCCCTCCTGCA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	68	68			NA	NA	8		NA											NA				145745329		2203	4300	6503	SO:0001583	missense			BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959	9684	9684			20419	protein-coding gene	gene with protein product					NA	7584026	Standard	NM_014665	NM_001272036	NA	Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.220G>A	8.37:g.145745329G>A	ENSP00000292524:p.Ala74Thr	NA	A8K0A8|D3DWM8	37	CCDS6432.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.712850	0.30413	.	.	ENSG00000160959	ENST00000527730;ENST00000529022;ENST00000292524;ENST00000530854;ENST00000525766	T;T;T;T;T	0.45668	2.26;5.06;5.06;0.9;0.89	3.95	3.04	0.35103	.	0.430073	0.20711	N	0.087082	T	0.28699	0.0711	L	0.29908	0.895	0.31265	N	0.692394	B	0.25312	0.123	B	0.24974	0.057	T	0.22277	-1.0221	10	0.31617	T	0.26	.	9.7436	0.40433	0.1093:0.0:0.8907:0.0	.	74	Q15048	LRC14_HUMAN	T	74	ENSP00000436452:A74T;ENSP00000434768:A74T;ENSP00000292524:A74T;ENSP00000435985:A74T;ENSP00000434738:A74T	ENSP00000292524:A74T	A	+	1	0	LRRC14	145716137	0.178000	0.23122	0.996000	0.52242	0.939000	0.58152	1.659000	0.37387	2.052000	0.61016	0.462000	0.41574	GCC	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382494.1		+	ENST00000292524.1	Missense_Mutation	SNP	8 : 145745329 - 145745329 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	446	67
ZNF274	10782	broad.mit.edu	37	19	58718468	58718468	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58718468G>A	ENST00000597818.1	+	0	826				ZNF274_ENST00000424679.2_Silent_p.L107L|ZNF274_ENST00000326804.4_Silent_p.L212L|ZNF274_ENST00000345813.3_Silent_p.L180L			Q96GC6	ZN274_HUMAN	zinc finger protein 274	NA					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		TAGGTGCACTGCCTGTGAAGC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	32	31			NA	NA	19		NA											NA				58718468		2203	4300	6503	SO:0001624	3_prime_UTR_variant			AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606	10782	10782		Zinc fingers, C2H2-type, -, -, -	13068	protein-coding gene	gene with protein product		605467			NA	10777669	Standard	NM_133502	NM_133502	NA	Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000597818.1:c.*823G>A	19.37:g.58718468G>A		NA	Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	37																																																																																				ZNF274-002	KNOWN	sequence_error|basic	processed_transcript	NA	protein_coding	OTTHUMT00000466736.1		+	ENST00000597818.1	3'UTR	SNP	19 : 58718468 - 58718468 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	97	17
SIGIRR	59307	broad.mit.edu	37	11	405971	405971	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:405971G>A	ENST00000531205.1	-	8	1549	c.1447C>T	c.(1447-1449)Cgt>Tgt	p.R483C	SIGIRR_ENST00000397632.3_Silent_p.D386D|SIGIRR_ENST00000382520.2_Missense_Mutation_p.R483C|SIGIRR_ENST00000431843.2_Silent_p.D386D|SIGIRR_ENST00000332725.3_Silent_p.D386D			Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	0					acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GATCCGAGACGTCCACTTCGC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	42	45			NA	NA	11		NA											NA				405971		2200	4293	6493	SO:0001583	missense				CCDS31325.1	11p15.5	2013-01-11	2005-10-10				59307	59307		Immunoglobulin superfamily / Immunoglobulin-like domain containing	30575	protein-coding gene	gene with protein product	single immunoglobulin domain IL1R1 related	605478			NA	10346978	Standard	NM_021805	NM_021805	NA	Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000531205.1:c.1447C>T	11.37:g.405971G>A	ENSP00000433022:p.Arg483Cys	NA	Q3KQY2|Q6UXI3|Q9H733	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	15.29|15.29	2.788298|2.788298	0.49997|0.49997	.|.	.|.	ENSG00000185187|ENSG00000185187	ENST00000531205;ENST00000382520|ENST00000526395	T;T|.	0.04317|.	3.65;3.65|.	3.54|3.54	-0.934|-0.934	0.10428|0.10428	.|.	.|.	.|.	.|.	.|.	T|T	0.31888|0.31888	0.0811|0.0811	.|.	.|.	.|.	0.29424|0.29424	N|N	0.860311|0.860311	B|.	0.12630|.	0.006|.	B|.	0.04013|.	0.001|.	T|T	0.36915|0.36915	-0.9728|-0.9728	8|4	0.87932|.	D|.	0|.	.|.	7.8452|7.8452	0.29421|0.29421	0.4184:0.0:0.5816:0.0|0.4184:0.0:0.5816:0.0	.|.	483|.	C9JFX4|.	.|.	C|M	483|118	ENSP00000433022:R483C;ENSP00000371960:R483C|.	ENSP00000371960:R483C|.	R|T	-|-	1|2	0|0	SIGIRR|SIGIRR	395971|395971	0.004000|0.004000	0.15560|0.15560	0.936000|0.936000	0.37596|0.37596	0.969000|0.969000	0.65631|0.65631	0.104000|0.104000	0.15313|0.15313	-0.138000|-0.138000	0.11434|0.11434	0.491000|0.491000	0.48974|0.48974	CGT|ACG	SIGIRR-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000383888.1		-	ENST00000531205.1	Missense_Mutation	SNP	11 : 405971 - 405971 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	138	25
MARCH9	92979	broad.mit.edu	37	12	58151910	58151910	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58151910C>T	ENST00000266643.5	+	3	964	c.533C>T	c.(532-534)aCg>aTg	p.T178M	MARCH9_ENST00000548358.1_Missense_Mutation_p.T65M	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	178						Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			ATCTCCCTGACGGTCATCGAG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	78	82			NA	NA	12		NA											NA				58151910		2203	4300	6503	SO:0001583	missense			BC009489	CCDS31847.1	12q14.1	2013-01-09				ENSG00000139266	92979	92979		MARCH membrane-associated ring fingers, RING-type (C3HC4) zinc fingers	25139	protein-coding gene	gene with protein product		613336			NA	14722266	Standard	NM_138396	NM_138396	NA	Approved	RNF179, FLJ36578	uc001spx.2	Q86YJ5		ENST00000266643.5:c.533C>T	12.37:g.58151910C>T	ENSP00000266643:p.Thr178Met	NA	B2R9U9|Q86VN5|Q96GG2	37	CCDS31847.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846206	0.71603	.	.	ENSG00000139266	ENST00000266643;ENST00000548358	T;T	0.60920	0.15;0.15	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.72598	0.3480	M	0.80616	2.505	0.80722	D	1	D;D	0.65815	0.99;0.995	P;P	0.54060	0.733;0.741	T	0.76966	-0.2763	10	0.87932	D	0	.	18.1173	0.89561	0.0:1.0:0.0:0.0	.	65;178	Q86YJ5-2;Q86YJ5	.;MARH9_HUMAN	M	178;65	ENSP00000266643:T178M;ENSP00000446758:T65M	ENSP00000266643:T178M	T	+	2	0	MARCH9	56438177	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	5.929000	0.70096	2.810000	0.96702	0.655000	0.94253	ACG	MARCH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409244.1		+	ENST00000266643.5	Missense_Mutation	SNP	12 : 58151910 - 58151910 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	357	58
CTD-3222D19.2	0	broad.mit.edu	37	19	16677435	16677435	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16677435G>A	ENST00000409035.1	-	5	1505	c.1245C>T	c.(1243-1245)ggC>ggT	p.G415G	SLC35E1_ENST00000595753.1_Silent_p.L222L|SLC35E1_ENST00000431408.1_Silent_p.L66L						NA											NA						ATGTTGAGCAGCCGGAGATGG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	89	90			NA	NA	19		NA											NA				16677435		2203	4300	6503	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000409035.1:c.1245C>T	19.37:g.16677435G>A		NA		37																																																																																				CTD-3222D19.2-001	KNOWN	basic|appris_principal|readthrough_transcript|exp_conf	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000461092.1		-	ENST00000409035.1	Silent	SNP	19 : 16677435 - 16677435 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	453	81
RRP8	23378	broad.mit.edu	37	11	6621780	6621780	+	Missense_Mutation	SNP	C	C	T	rs146302834		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6621780C>T	ENST00000534343.1	-	3	315	c.239G>A	c.(238-240)cGc>cAc	p.R80H	RRP8_ENST00000254605.6_Missense_Mutation_p.R396H			O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	396					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						ATCCTCAAAGCGGCTGCTGAC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG	0,4402		0,0,2201	39	40	40		1187	5.9	1	11	dbSNP_134	40	1,8591	1.2+/-3.3	0,1,4295	no	missense	RRP8	NM_015324.3	29	0,1,6496	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	396/457	6621780	1,12993	2201	4296	6497	SO:0001583	missense			AB007869	CCDS31411.1	11p15.4	2009-02-23	2009-02-23	2009-02-23	ENSG00000132275	ENSG00000132275	23378	23378			29030	protein-coding gene	gene with protein product	RRP8 methyltransferase homolog (S. cerevisiae)	615818	KIAA0409	KIAA0409	NA	9455477	Standard	NM_015324	NM_015324	NA	Approved		uc001med.3	O43159		ENST00000534343.1:c.239G>A	11.37:g.6621780C>T	ENSP00000436960:p.Arg80His	NA	Q7KZ78|Q9BVM6	37		.	.	.	.	.	.	.	.	.	.	C	29.8	5.037135	0.93630	0.0	1.16E-4	ENSG00000132275	ENST00000254605;ENST00000534343	T;T	0.60920	0.15;0.15	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.75170	0.3813	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75158	-0.3416	10	0.62326	D	0.03	-1.3872	18.8347	0.92157	0.0:1.0:0.0:0.0	.	396	O43159	RRP8_HUMAN	H	396;80	ENSP00000254605:R396H;ENSP00000436960:R80H	ENSP00000254605:R396H	R	-	2	0	RRP8	6578356	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.736000	0.74811	2.793000	0.96121	0.561000	0.74099	CGC	RRP8-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000384506.1		-	ENST00000534343.1	Missense_Mutation	SNP	11 : 6621780 - 6621780 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	201	33
SLC13A1	6561	broad.mit.edu	37	7	122787315	122787315	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122787315C>T	ENST00000194130.2	-	7	749	c.710G>A	c.(709-711)cGt>cAt	p.R237H	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	237						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	CGTAAGTTTACGTGTCACGTG	0.403		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	236	181	200		710	5	1	7		200	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC13A1	NM_022444.3	29	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign	237/596	122787315	1,13005	2203	4300	6503	SO:0001583	missense				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800	6561	6561		Solute carriers	10916	protein-coding gene	gene with protein product		606193	solute carrier family 13 (sodium/sulphate symporters), member 1		NA	11161786	Standard	NM_022444	NM_022444	NA	Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.710G>A	7.37:g.122787315C>T	ENSP00000194130:p.Arg237His	NA	Q9H5Z0	37	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.588357	0.28357	0.0	1.16E-4	ENSG00000081800	ENST00000194130	T	0.02890	4.12	5.0	5.0	0.66597	.	0.047420	0.85682	D	0.000000	T	0.03390	0.0098	L	0.33339	1.005	0.80722	D	1	B;B	0.22080	0.064;0.064	B;B	0.15870	0.014;0.014	T	0.53429	-0.8440	10	0.31617	T	0.26	-12.2015	15.81	0.78552	0.0:1.0:0.0:0.0	.	237;237	A4D0X1;Q9BZW2	.;S13A1_HUMAN	H	237	ENSP00000194130:R237H	ENSP00000194130:R237H	R	-	2	0	SLC13A1	122574551	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	4.920000	0.63390	2.337000	0.79520	0.563000	0.77884	CGT	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347404.1		-	ENST00000194130.2	Missense_Mutation	SNP	7 : 122787315 - 122787315 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	124	13
BARHL2	343472	broad.mit.edu	37	1	91182141	91182141	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91182141G>A	ENST00000370445.4	-	1	653	c.612C>T	c.(610-612)gaC>gaT	p.D204D		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	204						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		GGCATTTGATGTCGCTCTGGG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(199;3561 4100 22440)							NA				0													79	68	72			NA	NA	1		NA											NA				91182141		2203	4300	6503	SO:0001819	synonymous_variant			AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032	343472	343472		Homeoboxes / ANTP class : NKL subclass	954	protein-coding gene	gene with protein product		605212	BarH (Drosophila)-like 2		NA		Standard		NM_020063	NA	Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.612C>T	1.37:g.91182141G>A		NA	A0AVP2|Q7Z4N7	37	CCDS730.1																																																																																			BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000027728.2		-	ENST00000370445.4	Silent	SNP	1 : 91182141 - 91182141 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	305	19
MCC	4163	broad.mit.edu	37	5	112399705	112399705	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112399705C>A	ENST00000302475.4	-	12	2182	c.1619G>T	c.(1618-1620)aGc>aTc	p.S540I	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.S477I|MCC_ENST00000408903.3_Missense_Mutation_p.S730I	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	540					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GGAGGAAAGGCTCTCCCAGGG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	51	52			NA	NA	5		NA											NA				112399705		2202	4300	6502	SO:0001583	missense				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444	4163	4163		EF-hand domain containing	6935	protein-coding gene	gene with protein product		159350			NA	1848370	Standard	NM_001085377	NM_002387	NA	Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.1619G>T	5.37:g.112399705C>A	ENSP00000305617:p.Ser540Ile	NA	D3DT05|Q6ZR04	37	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186537	0.78789	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.37752	2.34;2.34;1.18	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.47838	0.1467	N	0.19112	0.55	0.80722	D	1	D;D;D	0.69078	0.99;0.997;0.99	D;D;D	0.80764	0.962;0.994;0.944	T	0.47368	-0.9123	10	0.46703	T	0.11	-22.4174	19.638	0.95744	0.0:1.0:0.0:0.0	.	540;730;540	B7Z6G0;P23508-2;P23508	.;.;CRCM_HUMAN	I	540;477;730	ENSP00000305617:S540I;ENSP00000421615:S477I;ENSP00000386227:S730I	ENSP00000305617:S540I	S	-	2	0	MCC	112427604	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.147000	0.71783	2.626000	0.88956	0.655000	0.94253	AGC	MCC-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250736.3		-	ENST00000302475.4	Missense_Mutation	SNP	5 : 112399705 - 112399705 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	491	97
NUFIP1	26747	broad.mit.edu	37	13	45554055	45554055	+	Silent	SNP	G	G	A	rs138309260	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:45554055G>A	ENST00000379161.4	-	4	673	c.627C>T	c.(625-627)caC>caT	p.H209H		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	209					box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		CAATCTTCTCGTGTGCAGTAA	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4405	2.1+/-5.4	0,1,2202	63	65	65		627	1.7	1	13	dbSNP_134	65	7,8581	5.0+/-18.6	0,7,4287	no	coding-synonymous	NUFIP1	NM_012345.2		0,8,6489	AA,AG,GG	NA	0.0815,0.0227,0.0616		209/496	45554055	8,12986	2203	4294	6497	SO:0001819	synonymous_variant			AF159548	CCDS9393.1	13q14	2008-02-05			ENSG00000083635	ENSG00000083635	26747	26747			8057	protein-coding gene	gene with protein product		604354			NA	10556305, 10894927	Standard	NM_012345	NM_012345	NA	Approved	NUFIP	uc001uzp.2	Q9UHK0	OTTHUMG00000016842	ENST00000379161.4:c.627C>T	13.37:g.45554055G>A		NA	Q8WVM5|Q96SG1	37	CCDS9393.1																																																																																			NUFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044755.2		-	ENST00000379161.4	Silent	SNP	13 : 45554055 - 45554055 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	199	30
CILP2	148113	broad.mit.edu	37	19	19650526	19650526	+	Missense_Mutation	SNP	G	G	A	rs142743091		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19650526G>A	ENST00000586018.1	+	2	205	c.103G>A	c.(103-105)Ggc>Agc	p.G35S	CILP2_ENST00000291495.5_Missense_Mutation_p.G35S			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	35						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GACTGCACTGGGCCTGGAAAG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	SER/GLY	0,4406		0,0,2203	91	91	91		103	3.2	0.9	19	dbSNP_134	91	1,8599	1.2+/-3.3	0,1,4299	no	missense	CILP2	NM_153221.2	56	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	35/1157	19650526	1,13005	2203	4300	6503	SO:0001583	missense			AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161	148113	148113		Immunoglobulin superfamily / Immunoglobulin-like domain containing	24213	protein-coding gene	gene with protein product		612419			NA	12477932	Standard	NM_153221	NM_153221	NA	Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000586018.1:c.103G>A	19.37:g.19650526G>A	ENSP00000467413:p.Gly35Ser	NA	Q6NV88|Q8N4A6|Q8WV21	37		.	.	.	.	.	.	.	.	.	.	G	15.86	2.958261	0.53400	0.0	1.16E-4	ENSG00000160161	ENST00000291495	T	0.52983	0.64	3.24	3.24	0.37175	.	0.140569	0.32218	N	0.006416	T	0.26085	0.0636	N	0.14661	0.345	0.37661	D	0.922776	B;B	0.19331	0.012;0.035	B;B	0.11329	0.006;0.006	T	0.13335	-1.0513	10	0.13853	T	0.58	-1.0353	10.2898	0.43588	0.0:0.0:1.0:0.0	.	35;35	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	S	35	ENSP00000291495:G35S	ENSP00000291495:G35S	G	+	1	0	CILP2	19511526	0.993000	0.37304	0.903000	0.35520	0.157000	0.22087	2.425000	0.44723	2.133000	0.65898	0.456000	0.33151	GGC	CILP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000459739.1		+	ENST00000586018.1	Missense_Mutation	SNP	19 : 19650526 - 19650526 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	838	23
CRYAA	1409	broad.mit.edu	37	21	44589368	44589368	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44589368C>T	ENST00000291554.2	+	1	251	c.159C>T	c.(157-159)ttC>ttT	p.F53F	CRYAA_ENST00000482775.1_3'UTR	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A	53					anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						AGTCCCTCTTCCGCACCGTGC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	124	127			NA	NA	21		NA											NA				44589368		2203	4300	6503	SO:0001819	synonymous_variant				CCDS13695.1	21q22.3	2011-09-05			ENSG00000160202	ENSG00000160202	1409	1409		Heat shock proteins / HSPB	2388	protein-coding gene	gene with protein product		123580		CRYA1	NA		Standard		XM_005261093	NA	Approved	HSPB4	uc002zdd.1	P02489	OTTHUMG00000086842	ENST00000291554.2:c.159C>T	21.37:g.44589368C>T		NA		37	CCDS13695.1																																																																																			CRYAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195562.1		+	ENST00000291554.2	Silent	SNP	21 : 44589368 - 44589368 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	869	88
ZNF814	730051	broad.mit.edu	37	19	58388344	58388344	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58388344C>T	ENST00000435989.2	-	2	337	c.103G>A	c.(103-105)Gct>Act	p.A35T	CTD-2583A14.9_ENST00000602124.1_3'UTR|ZNF814_ENST00000597807.1_Missense_Mutation_p.A35T|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Missense_Mutation_p.A35T|ZNF814_ENST00000600634.1_Missense_Mutation_p.A35T|ZNF814_ENST00000597832.1_Missense_Mutation_p.A35T|ZNF814_ENST00000597342.1_Missense_Mutation_p.A64T	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	35	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						CATCTCTGAGCCTCACTAAGG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													205	161	175			NA	NA	19		NA											NA				58388344		692	1591	2283	SO:0001583	missense				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514	730051	730051		Zinc fingers, C2H2-type, -	33258	protein-coding gene	gene with protein product					NA		Standard	XM_001725708	NM_001144989	NA	Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.103G>A	19.37:g.58388344C>T	ENSP00000410545:p.Ala35Thr	NA	A6NF35	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	19.67	3.870316	0.72065	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.02236	4.38	3.35	-2.51	0.06365	Krueppel-associated box (4);	.	.	.	.	T	0.02494	0.0076	L	0.50333	1.59	0.09310	N	1	B	0.24618	0.107	B	0.30316	0.114	T	0.45425	-0.9262	9	0.49607	T	0.09	.	2.8801	0.05645	0.3693:0.3914:0.0:0.2392	.	35	B7Z6K7	ZN814_HUMAN	T	35	ENSP00000410545:A35T	ENSP00000365378:A35T	A	-	1	0	ZNF814	63080156	0.000000	0.05858	0.072000	0.20136	0.828000	0.46876	-0.968000	0.03817	-0.134000	0.11516	0.306000	0.20318	GCT	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466976.1		-	ENST00000435989.2	Missense_Mutation	SNP	19 : 58388344 - 58388344 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	578	112
ZNF43	7594	broad.mit.edu	37	19	21991035	21991035	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21991035C>T	ENST00000594012.1	-	7	2300	c.1786G>A	c.(1786-1788)Gct>Act	p.A596T	ZNF43_ENST00000598381.1_Missense_Mutation_p.A596T|ZNF43_ENST00000595461.1_Missense_Mutation_p.A596T|ZNF43_ENST00000354959.4_Missense_Mutation_p.A602T	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	602					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TGGGTAAAAGCTTTGCCACAT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	50	49			NA	NA	19		NA											NA				21991035		2203	4298	6501	SO:0001583	missense			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521	7594	7594		Zinc fingers, C2H2-type, -	13109	protein-coding gene	gene with protein product		603972	zinc finger protein 39-like 1 (KOX 27), zinc finger protein 43 (HTF6)	ZNF39L1	NA	1711675	Standard	NM_003423	NM_001256649	NA	Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000594012.1:c.1786G>A	19.37:g.21991035C>T	ENSP00000469578:p.Ala596Thr	NA	A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	37	CCDS59367.1	.	.	.	.	.	.	.	.	.	.	c	11.18	1.564185	0.27915	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.16897	2.31	1.76	0.623	0.17654	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07188	0.0182	N	0.11560	0.145	0.23712	N	0.997041	B	0.33022	0.394	B	0.33121	0.158	T	0.29549	-1.0008	9	0.39692	T	0.17	.	0.8388	0.01145	0.2283:0.3779:0.2261:0.1677	.	602	P17038	ZNF43_HUMAN	T	601;602	ENSP00000347045:A602T	ENSP00000347045:A602T	A	-	1	0	ZNF43	21782875	0.000000	0.05858	0.066000	0.19879	0.802000	0.45316	-2.249000	0.01188	0.081000	0.16988	0.305000	0.20034	GCT	ZNF43-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464250.1		-	ENST00000594012.1	Missense_Mutation	SNP	19 : 21991035 - 21991035 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	272	46
CIC	23152	broad.mit.edu	37	19	42797365	42797365	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42797365G>A	ENST00000572681.2	+	16	6516	c.6448G>A	c.(6448-6450)Gcc>Acc	p.A2150T	CIC_ENST00000575354.2_Missense_Mutation_p.A1243T|CIC_ENST00000160740.3_Missense_Mutation_p.A1241T			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GACTCCCACGGCCCGGAGCAG	0.716		NA	Mis, F, S		oligodendroglioma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		19	19q13.2	23152	capicua homolog		O	0													9	10	10			NA	NA	19		NA											NA				42797365		2161	4260	6421	SO:0001583	missense			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432	23152	23152			14214	protein-coding gene	gene with protein product		612082	capicua (Drosophila) homolog, capicua homolog (Drosophila)		NA	12393275, 15981098	Standard		NM_015125	NA	Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000572681.2:c.6448G>A	19.37:g.42797365G>A	ENSP00000459719:p.Ala2150Thr	NA	Q7LGI1|Q9UEG5|Q9Y6T1	37		.	.	.	.	.	.	.	.	.	.	G	10.63	1.404741	0.25378	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.54	2.06	0.26882	.	.	.	.	.	T	0.17662	0.0424	N	0.08118	0	0.24145	N	0.995716	B	0.06786	0.001	B	0.04013	0.001	T	0.19321	-1.0309	8	0.87932	D	0	-3.0206	4.6748	0.12706	0.1533:0.2077:0.6391:0.0	.	1243	Q96RK0	CIC_HUMAN	T	1243	.	ENSP00000160740:A1243T	A	+	1	0	CIC	47489205	0.635000	0.27199	0.516000	0.27786	0.254000	0.26022	0.944000	0.29043	0.453000	0.26858	0.491000	0.48974	GCC	CIC-002	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000438528.3		+	ENST00000572681.2	Missense_Mutation	SNP	19 : 42797365 - 42797365 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	63	11
CIAPIN1	57019	broad.mit.edu	37	16	57463101	57463101	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57463101C>A	ENST00000569979.1	-	6	768	c.722G>T	c.(721-723)aGc>aTc	p.S241I	CIAPIN1_ENST00000568940.1_3'UTR|CIAPIN1_ENST00000565961.1_3'UTR|CIAPIN1_ENST00000567518.1_Missense_Mutation_p.S294I|CIAPIN1_ENST00000569370.1_3'UTR|CIAPIN1_ENST00000394391.4_Missense_Mutation_p.S307I			Q6FI81	CPIN1_HUMAN	cytokine induced apoptosis inhibitor 1	307					anti-apoptosis|apoptosis	cytoplasm|nucleolus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						ATGAAGATTGCTATCACTCAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	74	74			NA	NA	16		NA											NA				57463101		2019	4166	6185	SO:0001583	missense			AF248964	CCDS10781.2	16q21	2012-09-20			ENSG00000005194	ENSG00000005194	57019	57019			28050	protein-coding gene	gene with protein product		608943			NA	10493829, 11230166	Standard	NM_020313	XM_005256061	NA	Approved	Anamorsin	uc002ell.1	Q6FI81	OTTHUMG00000133457	ENST00000569979.1:c.722G>T	16.37:g.57463101C>A	ENSP00000458000:p.Ser241Ile	NA	A8K8B6|O75206|O75207|Q9H0W1|Q9P1L7	37		.	.	.	.	.	.	.	.	.	.	C	15.39	2.818791	0.50633	.	.	ENSG00000005194	ENST00000394391	T	0.32272	1.46	4.73	-0.119	0.13543	.	0.716513	0.14083	N	0.342575	T	0.26629	0.0651	L	0.46157	1.445	0.09310	N	1	P;B	0.37636	0.603;0.201	B;B	0.42422	0.387;0.063	T	0.17992	-1.0351	10	0.59425	D	0.04	-2.4236	4.2962	0.10902	0.0:0.3044:0.1827:0.5129	.	294;307	Q6FI81-3;Q6FI81	.;CPIN1_HUMAN	I	307	ENSP00000377914:S307I	ENSP00000377914:S307I	S	-	2	0	CIAPIN1	56020602	0.002000	0.14202	0.009000	0.14445	0.753000	0.42808	0.020000	0.13466	0.174000	0.19809	0.561000	0.74099	AGC	CIAPIN1-010	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000432580.1		-	ENST00000569979.1	Missense_Mutation	SNP	16 : 57463101 - 57463101 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	239	43
MDN1	23195	broad.mit.edu	37	6	90390433	90390433	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90390433G>T	ENST00000369393.3	-	74	12255	c.12140C>A	c.(12139-12141)tCc>tAc	p.S4047Y	MDN1_ENST00000428876.1_Missense_Mutation_p.S4047Y			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4047					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCCAAGCCGGAAGGAGCAGC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	59	60			NA	NA	6		NA											NA				90390433		2203	4300	6503	SO:0001583	missense			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159	23195	23195			18302	protein-coding gene	gene with protein product					NA	9205841, 12102729	Standard		XM_005248699	NA	Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.12140C>A	6.37:g.90390433G>T	ENSP00000358400:p.Ser4047Tyr	NA	O15019|Q5T794	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	5.332	0.246517	0.10130	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03413	3.94;3.94	4.54	0.545	0.17190	.	0.979712	0.08407	N	0.950525	T	0.00637	0.0021	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47598	-0.9105	10	0.02654	T	1	.	3.1593	0.06515	0.5294:0.0:0.177:0.2936	.	4047	Q9NU22	MDN1_HUMAN	Y	4047	ENSP00000358400:S4047Y;ENSP00000413970:S4047Y	ENSP00000358400:S4047Y	S	-	2	0	MDN1	90447154	0.005000	0.15991	0.001000	0.08648	0.023000	0.10783	0.508000	0.22692	-0.085000	0.12573	-0.367000	0.07326	TCC	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041514.2		-	ENST00000369393.3	Missense_Mutation	SNP	6 : 90390433 - 90390433 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	251	32
FER	2241	broad.mit.edu	37	5	108290635	108290635	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108290635T>C	ENST00000281092.4	+	12	1917		c.e12+2		FER_ENST00000438717.2_Splice_Site|FER_ENST00000536402.1_Intron	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	NA					intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TATGTTGATGTACGTTTCCAG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(146;1051 1799 9836 27344 47401)							NA				0													90	89	89			NA	NA	5		NA											NA				108290635		2202	4299	6501	SO:0001630	splice_region_variant			J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2241	2241	2.7.10.1	Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, SH2 domain containing	3655	protein-coding gene	gene with protein product	phosphoprotein NCP94, protein phosphatase 1, regulatory subunit 74	176942			NA		Standard	NM_005246	NM_005246	NA	Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.1533+2T>C	5.37:g.108290635T>C		NA	B2RCR4|B4DSQ2	37	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.407503	0.83340	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0679	0.72011	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	FER	108318534	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.012000	0.88631	1.941000	0.56285	0.455000	0.32223	.	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250664.1	Intron	+	ENST00000281092.4	Splice_Site	SNP	5 : 108290635 - 108290635 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	452	77
SLC5A2	6524	broad.mit.edu	37	16	31501753	31501753	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31501753G>A	ENST00000330498.3	+	14	1935	c.1916G>A	c.(1915-1917)cGg>cAg	p.R639Q	C16orf58_ENST00000567994.1_3'UTR|SLC5A2_ENST00000564197.1_Intron|C16orf58_ENST00000327237.2_3'UTR|C16orf58_ENST00000570164.1_3'UTR	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	639					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						GCAGCCAGGCGGCTGGAGGAC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	35	34			NA	NA	16		NA											NA				31501753		2197	4300	6497	SO:0001583	missense				CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675	6524	6524		Solute carriers	11037	protein-coding gene	gene with protein product		182381		SGLT2	NA	8244402	Standard		NM_003041	NA	Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1916G>A	16.37:g.31501753G>A	ENSP00000327943:p.Arg639Gln	NA		37	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768689	0.49680	.	.	ENSG00000140675	ENST00000330498	D	0.92647	-3.08	5.39	-2.0	0.07433	.	0.715087	0.13852	N	0.358262	D	0.84750	0.5541	L	0.36672	1.1	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.69339	-0.5171	10	0.25106	T	0.35	.	9.7626	0.40541	0.7106:0.0:0.2894:0.0	.	639	P31639	SC5A2_HUMAN	Q	639	ENSP00000327943:R639Q	ENSP00000327943:R639Q	R	+	2	0	SLC5A2	31409254	0.000000	0.05858	0.991000	0.47740	0.781000	0.44180	-0.391000	0.07323	-0.193000	0.10415	-0.254000	0.11334	CGG	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255627.2		+	ENST00000330498.3	Missense_Mutation	SNP	16 : 31501753 - 31501753 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	168	46
C1orf210	149466	broad.mit.edu	37	1	43748499	43748499	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43748499C>A	ENST00000523677.1	-	3	532	c.299G>T	c.(298-300)gGc>gTc	p.G100V	C1orf210_ENST00000423420.1_Missense_Mutation_p.G100V	NM_001164829.1|NM_182517.2	NP_001158301.1|NP_872323.1	Q8IVY1	CA210_HUMAN	chromosome 1 open reading frame 210	100						integral to membrane				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCCCAGCTCGCCAGTCCCAGG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	73	79			NA	NA	1		NA											NA				43748499		2203	4300	6503	SO:0001583	missense			BC041633	CCDS481.1	1p34.2	2006-03-22			ENSG00000253313	ENSG00000253313	149466	149466			28755	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_182517	NM_182517	NA	Approved	MGC52423	uc001cit.4	Q8IVY1	OTTHUMG00000007289	ENST00000523677.1:c.299G>T	1.37:g.43748499C>A	ENSP00000430918:p.Gly100Val	NA	D3DPX2	37	CCDS481.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.062315	0.55432	.	.	ENSG00000253313	ENST00000523677;ENST00000423420	T;T	0.46063	0.88;0.88	5.67	3.39	0.38822	.	0.680689	0.14651	N	0.306584	T	0.27063	0.0663	L	0.29908	0.895	0.29499	N	0.855033	B	0.33171	0.4	B	0.31101	0.124	T	0.19811	-1.0294	10	0.52906	T	0.07	.	5.088	0.14693	0.0:0.6033:0.2052:0.1915	.	100	Q8IVY1	CA210_HUMAN	V	100	ENSP00000430918:G100V;ENSP00000429399:G100V	ENSP00000429399:G100V	G	-	2	0	C1orf210	43521086	0.086000	0.21541	0.099000	0.21106	0.823000	0.46562	1.133000	0.31430	1.344000	0.45657	0.561000	0.74099	GGC	C1orf210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019035.2		-	ENST00000523677.1	Missense_Mutation	SNP	1 : 43748499 - 43748499 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	416	31
RGS7	6000	broad.mit.edu	37	1	241031913	241031913	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241031913C>A	ENST00000366565.1	-	9	964	c.583G>T	c.(583-585)Gcg>Tcg	p.A195S	RGS7_ENST00000366563.1_Missense_Mutation_p.A195S|RGS7_ENST00000407727.1_Missense_Mutation_p.A195S|RGS7_ENST00000348120.2_Missense_Mutation_p.A142S|RGS7_ENST00000331110.7_Missense_Mutation_p.A169S|RGS7_ENST00000366562.4_Missense_Mutation_p.A195S|RGS7_ENST00000446183.2_Missense_Mutation_p.A111S|RGS7_ENST00000366564.1_Missense_Mutation_p.A195S|RGS7_ENST00000401882.1_Missense_Mutation_p.A142S	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	195					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCCCAGAACGCTCTCTCTTGG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	117	129			NA	NA	1		NA											NA				241031913		2203	4300	6503	SO:0001583	missense			BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901	6000	6000		Regulators of G-protein signaling	10003	protein-coding gene	gene with protein product		602517	regulator of G-protein signalling 7		NA	8548815	Standard	NM_002924	XM_005273218	NA	Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000366565.1:c.583G>T	1.37:g.241031913C>A	ENSP00000355523:p.Ala195Ser	NA	Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	37	CCDS31071.1	.	.	.	.	.	.	.	.	.	.	C	33	5.276787	0.95459	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.63255	0.39;0.26;0.32;0.31;-0.03;0.56;0.49;0.32;0.26;0.56	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.82742	0.5103	M	0.88775	2.98	0.80722	D	1	D;P;P;D;P;D;D	0.71674	0.968;0.919;0.951;0.998;0.951;0.996;0.969	P;P;P;D;P;D;P	0.70016	0.718;0.507;0.769;0.967;0.769;0.926;0.818	D	0.85729	0.1330	10	0.87932	D	0	-10.8088	18.6358	0.91378	0.0:1.0:0.0:0.0	.	111;169;142;195;195;195;195	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	S	169;195;195;195;26;142;111;195;195;142	ENSP00000331485:A169S;ENSP00000355523:A195S;ENSP00000355522:A195S;ENSP00000355521:A195S;ENSP00000404399:A26S;ENSP00000341242:A142S;ENSP00000390138:A111S;ENSP00000355520:A195S;ENSP00000384428:A195S;ENSP00000385508:A142S	ENSP00000331485:A169S	A	-	1	0	RGS7	239098536	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	7.734000	0.84928	2.653000	0.90120	0.655000	0.94253	GCG	RGS7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096719.3		-	ENST00000366565.1	Missense_Mutation	SNP	1 : 241031913 - 241031913 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	538	80
C10orf118	0	broad.mit.edu	37	10	115884935	115884935	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115884935C>T	ENST00000369287.3	-	16	2930	c.2664G>A	c.(2662-2664)caG>caA	p.Q888Q	C10orf118_ENST00000543782.1_3'UTR	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN		888										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		CTAGTTCATGCTGGTGTTTAA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													239	203	215			NA	NA	10		NA											NA				115884935		2202	4299	6501	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000369287.3:c.2664G>A	10.37:g.115884935C>T		NA	Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	37	CCDS7587.1																																																																																			C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050455.1		-	ENST00000369287.3	Silent	SNP	10 : 115884935 - 115884935 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	210	9
ANKIB1	54467	broad.mit.edu	37	7	92027712	92027712	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92027712C>T	ENST00000265742.3	+	20	3095	c.2719C>T	c.(2719-2721)Cgg>Tgg	p.R907W		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	907							protein binding|zinc ion binding	p.R907W(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGATAGCCCTCGGGCTGCATT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											59	57	58			NA	NA	7		NA											NA				92027712		1883	4128	6011	SO:0001583	missense			AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629	54467	54467		Ankyrin repeat domain containing	22215	protein-coding gene	gene with protein product					NA		Standard		NM_019004	NA	Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.2719C>T	7.37:g.92027712C>T	ENSP00000265742:p.Arg907Trp	NA	Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	37	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.363394	0.61513	.	.	ENSG00000001629	ENST00000265742	T	0.14266	2.52	5.87	2.99	0.34606	.	0.160491	0.53938	D	0.000048	T	0.22627	0.0546	L	0.34521	1.04	0.48185	D	0.999608	D;D	0.89917	1.0;0.984	D;P	0.66602	0.945;0.482	T	0.00581	-1.1660	10	0.87932	D	0	.	10.8133	0.46559	0.5232:0.3716:0.1052:0.0	.	259;907	Q4VBX8;Q9P2G1	.;AKIB1_HUMAN	W	907	ENSP00000265742:R907W	ENSP00000265742:R907W	R	+	1	2	ANKIB1	91865648	1.000000	0.71417	0.875000	0.34327	0.979000	0.70002	1.756000	0.38390	0.425000	0.26087	-0.181000	0.13052	CGG	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342018.1		+	ENST00000265742.3	Missense_Mutation	SNP	7 : 92027712 - 92027712 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	135	25
POLE	5426	broad.mit.edu	37	12	133220118	133220118	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133220118T>C	ENST00000320574.5	-	34	4362	c.4319A>G	c.(4318-4320)cAc>cGc	p.H1440R	POLE_ENST00000535270.1_Missense_Mutation_p.H1413R	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1440					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		ACAGCCCAGGTGCACCAGGGC	0.607		NA						DNA polymerases (catalytic subunits)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	133	136			NA	NA	12		NA											NA				133220118		2203	4300	6503	SO:0001583	missense				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084	5426	5426		DNA polymerases	9177	protein-coding gene	gene with protein product	DNA polymerase epsilon catalytic subunit A	174762	polymerase (DNA directed), epsilon		NA	8020968	Standard	NM_006231	NM_006231	NA	Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4319A>G	12.37:g.133220118T>C	ENSP00000322570:p.His1440Arg	NA	Q13533|Q86VH9	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	T	12.64	1.997892	0.35226	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.16324	2.35;2.35;2.35	5.87	4.74	0.60224	.	0.387057	0.31936	N	0.006830	T	0.07954	0.0199	N	0.05199	-0.095	0.25251	N	0.989672	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.20907	-1.0261	10	0.48119	T	0.1	.	6.5082	0.22206	0.1376:0.0728:0.0:0.7895	.	1413;1440	F5H1D6;Q07864	.;DPOE1_HUMAN	R	1440;1451;1413	ENSP00000322570:H1440R;ENSP00000406383:H1451R;ENSP00000445753:H1413R	ENSP00000322570:H1440R	H	-	2	0	POLE	131730191	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	2.734000	0.47368	1.087000	0.41251	0.524000	0.50904	CAC	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397689.2		-	ENST00000320574.5	Missense_Mutation	SNP	12 : 133220118 - 133220118 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	994	198
TINAG	27283	broad.mit.edu	37	6	54173411	54173411	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54173411G>A	ENST00000259782.4	+	1	159	c.63G>A	c.(61-63)aaG>aaA	p.K21K	TINAG_ENST00000370864.3_Silent_p.K3K|TINAG_ENST00000370869.3_Silent_p.K17K|TINAG_ENST00000486436.1_3'UTR	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	21					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GGATGGAGAAGCAGTATTTAT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	73	74			NA	NA	6		NA											NA				54173411		2203	4300	6503	SO:0001819	synonymous_variant			AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251	27283	27283			14599	protein-coding gene	gene with protein product		606749			NA	10652240	Standard	NM_014464	NM_014464	NA	Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.63G>A	6.37:g.54173411G>A		NA	Q5T467|Q9UJW1|Q9ULZ4	37	CCDS4955.1																																																																																			TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040984.1		+	ENST00000259782.4	Silent	SNP	6 : 54173411 - 54173411 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	447	64
C1QC	714	broad.mit.edu	37	1	22973781	22973781	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22973781C>T	ENST00000374639.3	+	3	361	c.243C>T	c.(241-243)ccC>ccT	p.P81P	C1QC_ENST00000374640.4_Silent_p.P81P|C1QC_ENST00000374637.1_Silent_p.P81P	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	81	Collagen-like.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen		p.P81P(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCGGCTTACCCGGCCATCCTG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(26;671 750 8290 29071 43278)							NA				1	Substitution - coding silent(1)	lung(1)											31	36	34			NA	NA	1		NA											NA				22973781		2203	4300	6503	SO:0001819	synonymous_variant			AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189	714	714		Complement system	1245	protein-coding gene	gene with protein product		120575	complement component 1, q subcomponent, gamma polypeptide	C1QG	NA	1706597	Standard	NM_172369	NM_001114101	NA	Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.243C>T	1.37:g.22973781C>T		NA	Q7Z502|Q96DL2|Q96H05	37	CCDS227.1																																																																																			C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000008083.1		+	ENST00000374639.3	Silent	SNP	1 : 22973781 - 22973781 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	351	29
GPC5	2262	broad.mit.edu	37	13	92101141	92101141	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:92101141A>C	ENST00000377067.3	+	2	662	c.290A>C	c.(289-291)aAg>aCg	p.K97T		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	97						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TCTACATTAAAGTTTCTAATA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	106	109			NA	NA	13		NA											NA				92101141		2203	4300	6503	SO:0001583	missense			AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399	2262	2262		Proteoglycans / Cell Surface : Glypicans	4453	protein-coding gene	gene with protein product	glypican proteoglycan 5	602446			NA	9070915, 20304703, 19556317, 15057823	Standard	NM_004466	NM_004466	NA	Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.290A>C	13.37:g.92101141A>C	ENSP00000366267:p.Lys97Thr	NA	B2R726|O60436|Q9BX27	37	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.505070	0.85282	.	.	ENSG00000179399	ENST00000377067	T	0.53640	0.61	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.69269	0.3092	M	0.77103	2.36	0.44055	D	0.996794	D	0.76494	0.999	D	0.76575	0.988	T	0.73933	-0.3826	10	0.87932	D	0	.	14.8025	0.69926	1.0:0.0:0.0:0.0	.	97	P78333	GPC5_HUMAN	T	97	ENSP00000366267:K97T	ENSP00000366267:K97T	K	+	2	0	GPC5	90899142	1.000000	0.71417	0.999000	0.59377	0.783000	0.44284	8.887000	0.92456	2.086000	0.62901	0.383000	0.25322	AAG	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045454.1		+	ENST00000377067.3	Missense_Mutation	SNP	13 : 92101141 - 92101141 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	434	80
OSGIN1	29948	broad.mit.edu	37	16	83999313	83999313	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:83999313G>A	ENST00000343939.2	+	7	1767	c.1384G>A	c.(1384-1386)Gac>Aac	p.D462N	OSGIN1_ENST00000393306.1_Missense_Mutation_p.D379N|OSGIN1_ENST00000361711.3_Missense_Mutation_p.D379N			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	462					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						CGTGTTCCAGGACCTCGAGGG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	106	110			NA	NA	16		NA											NA				83999313		2200	4300	6500	SO:0001583	missense			AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961	29948	29948			30093	protein-coding gene	gene with protein product	bone marrow stromal cell-derived growth inhibitor, pregnancy induced growth inhibitor	607975			NA	11459809, 14570898	Standard	NM_013370	NM_182981	NA	Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.1384G>A	16.37:g.83999313G>A	ENSP00000343376:p.Asp462Asn	NA	Q52M33|Q86UQ1|Q96S88|Q9BZ70	37		.	.	.	.	.	.	.	.	.	.	G	8.718	0.913690	0.17907	.	.	ENSG00000140961	ENST00000343939;ENST00000361711;ENST00000393306	T;T;T	0.33216	1.42;1.42;1.42	4.66	4.66	0.58398	.	0.252505	0.41500	D	0.000867	T	0.49440	0.1557	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.36553	-0.9743	10	0.22706	T	0.39	-48.3103	16.5398	0.84382	0.0:0.0:1.0:0.0	.	462	Q9UJX0	OSGI1_HUMAN	N	462;379;379	ENSP00000343376:D462N;ENSP00000355374:D379N;ENSP00000376983:D379N	ENSP00000343376:D462N	D	+	1	0	OSGIN1	82556814	0.995000	0.38212	0.596000	0.28811	0.226000	0.24999	4.166000	0.58203	2.140000	0.66376	0.313000	0.20887	GAC	OSGIN1-001	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000269081.1		+	ENST00000343939.2	Missense_Mutation	SNP	16 : 83999313 - 83999313 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	95
PTPRG	5793	broad.mit.edu	37	3	62259478	62259478	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:62259478C>T	ENST00000474889.1	+	23	3801	c.3424C>T	c.(3424-3426)Cca>Tca	p.P1142S	PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.P1113S|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1142					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CATCCTTATACCAGGAGTAGG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	120	123			NA	NA	3		NA											NA				62259478		2203	4300	6503	SO:0001583	missense			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724	5793	5793		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing	9671	protein-coding gene	gene with protein product		176886		PTPG	NA	1711217	Standard	NM_002841	NM_002841	NA	Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.3424C>T	3.37:g.62259478C>T	ENSP00000418112:p.Pro1142Ser	NA	B2RU12|Q15623|Q59EE0|Q68DU5	37	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342343	0.81911	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.52057	0.68;0.68	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.68513	0.3009	M	0.72118	2.19	0.80722	D	1	D;P;D	0.65815	0.995;0.952;0.992	P;P;P	0.62298	0.727;0.65;0.9	T	0.68550	-0.5379	10	0.72032	D	0.01	.	20.6244	0.99512	0.0:1.0:0.0:0.0	.	388;1113;1142	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	S	1142;1113	ENSP00000418112:P1142S;ENSP00000295874:P1113S	ENSP00000295874:P1113S	P	+	1	0	PTPRG	62234518	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.783000	0.85696	2.879000	0.98667	0.650000	0.86243	CCA	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351674.1		+	ENST00000474889.1	Missense_Mutation	SNP	3 : 62259478 - 62259478 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	462	86
C9orf43	257169	broad.mit.edu	37	9	116187992	116187992	+	Missense_Mutation	SNP	G	G	A	rs145109883		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116187992G>A	ENST00000288462.4	+	11	1458	c.1012G>A	c.(1012-1014)Gtt>Att	p.V338I	C9orf43_ENST00000374165.1_Missense_Mutation_p.V338I	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	338										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						AGTTACCACCGTTCATGACCG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ILE/VAL	0,4406		0,0,2203	143	118	126		1012	-3.6	0	9	dbSNP_134	126	1,8599	1.2+/-3.3	0,1,4299	no	missense	C9orf43	NM_152786.1	29	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	possibly-damaging	338/462	116187992	1,13005	2203	4300	6503	SO:0001583	missense			BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653	257169	257169			23570	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152786	NM_152786	NA	Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.1012G>A	9.37:g.116187992G>A	ENSP00000288462:p.Val338Ile	NA		37	CCDS6796.1	.	.	.	.	.	.	.	.	.	.	G	6.948	0.544781	0.13312	0.0	1.16E-4	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.47177	0.85;0.85	3.98	-3.64	0.04515	.	2.072450	0.02239	N	0.065609	T	0.28499	0.0705	N	0.19112	0.55	0.09310	N	1	B	0.20780	0.048	B	0.19148	0.024	T	0.08186	-1.0734	10	0.15499	T	0.54	2.022	5.4062	0.16323	0.5812:0.0:0.2679:0.1509	.	338	Q8TAL5	CI043_HUMAN	I	338	ENSP00000363280:V338I;ENSP00000288462:V338I	ENSP00000288462:V338I	V	+	1	0	C9orf43	115227813	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.547000	0.06055	-0.823000	0.04301	-0.290000	0.09829	GTT	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053739.1		+	ENST00000288462.4	Missense_Mutation	SNP	9 : 116187992 - 116187992 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	360	62
OAF	220323	broad.mit.edu	37	11	120097673	120097673	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120097673G>A	ENST00000328965.4	+	3	1028	c.515G>A	c.(514-516)cGc>cAc	p.R172H	OAF_ENST00000531220.1_Missense_Mutation_p.R56H	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	172										kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		ATCTACACCCGCCAGGAGGAT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	38	39			NA	NA	11		NA											NA				120097673		2203	4300	6503	SO:0001583	missense			BC047726	CCDS8430.1	11q23.3	2010-11-23			ENSG00000184232	ENSG00000184232	220323	220323			28752	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_178507	NM_178507	NA	Approved	MGC52117	uc001pxb.3	Q86UD1	OTTHUMG00000166139	ENST00000328965.4:c.515G>A	11.37:g.120097673G>A	ENSP00000332613:p.Arg172His	NA		37	CCDS8430.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.229765	0.79688	.	.	ENSG00000184232	ENST00000328965;ENST00000531220	T;T	0.47177	0.85;0.85	5.3	4.39	0.52855	.	0.108226	0.64402	D	0.000008	T	0.68933	0.3055	M	0.80847	2.515	0.58432	D	0.999999	D	0.89917	1.0	D	0.74023	0.982	T	0.74210	-0.3739	10	0.87932	D	0	-20.0037	13.8657	0.63588	0.0738:0.0:0.9262:0.0	.	172	Q86UD1	OAF_HUMAN	H	172;56	ENSP00000332613:R172H;ENSP00000431865:R56H	ENSP00000332613:R172H	R	+	2	0	OAF	119602883	1.000000	0.71417	1.000000	0.80357	0.472000	0.32918	9.402000	0.97298	1.228000	0.43614	0.462000	0.41574	CGC	OAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388036.2		+	ENST00000328965.4	Missense_Mutation	SNP	11 : 120097673 - 120097673 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	268	47
RREB1	6239	broad.mit.edu	37	6	7229595	7229595	+	Silent	SNP	C	C	T	rs140980354	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7229595C>T	ENST00000379938.2	+	10	1800	c.1263C>T	c.(1261-1263)ggC>ggT	p.G421G	RREB1_ENST00000379933.3_Silent_p.G421G|RREB1_ENST00000334984.6_Silent_p.G421G|RREB1_ENST00000349384.6_Silent_p.G421G	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	421					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTTCCCTAGGCGGTTCTCTCA	0.577		NA											C	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	1	EXOME	NA	NA	4e-04	SNP								NA				0								C	,,,	1,4405	2.1+/-5.4	0,1,2202	57	52	53		1263,1263,1263,1263	-1.4	0.1	6	dbSNP_134	53	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RREB1	NM_001003698.3,NM_001003699.3,NM_001003700.1,NM_001168344.1	,,,	0,4,6499	TT,TC,CC	NA	0.0349,0.0227,0.0308	,,,	421/1688,421/1743,421/1477,421/1688	7229595	4,13002	2203	4300	6503	SO:0001819	synonymous_variant			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782	6239	6239		Zinc fingers, C2H2-type	10449	protein-coding gene	gene with protein product	hindsight homolog (drosophila)	602209			NA	9367691, 18394891	Standard		NM_001003698	NA	Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000379938.2:c.1263C>T	6.37:g.7229595C>T		NA	A2RRF5|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	37	CCDS34335.1																																																																																			RREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039774.3		+	ENST00000379938.2	Silent	SNP	6 : 7229595 - 7229595 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	353	72
STARD8	9754	broad.mit.edu	37	X	67937991	67937991	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:67937991A>G	ENST00000252336.6	+	5	1367	c.995A>G	c.(994-996)gAc>gGc	p.D332G	STARD8_ENST00000374597.3_Missense_Mutation_p.D332G|STARD8_ENST00000374599.3_Missense_Mutation_p.D412G	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	332					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						ATGTACCCAGACCTGGGGCCT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	45	47			NA	NA	X		NA											NA				67937991		2203	4300	6503	SO:0001583	missense			D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052	9754	9754		Rho GTPase activating proteins, StAR-related lipid transfer (START) domain containing	19161	protein-coding gene	gene with protein product		300689	START domain containing 8		NA	8724849	Standard	NM_014725	NM_001142504	NA	Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.995A>G	X.37:g.67937991A>G	ENSP00000252336:p.Asp332Gly	NA	A8K6T2|D3DVT9|Q5JST0|Q68DG7	37	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	A	11.47	1.646943	0.29246	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.10477	2.87;2.89;2.87	4.4	4.4	0.53042	.	0.374529	0.28026	N	0.016882	T	0.13543	0.0328	L	0.56769	1.78	0.31714	N	0.639101	B;B	0.33238	0.403;0.281	B;B	0.36289	0.221;0.11	T	0.05305	-1.0893	10	0.44086	T	0.13	.	10.6264	0.45510	1.0:0.0:0.0:0.0	.	412;332	Q92502-2;Q92502	.;STAR8_HUMAN	G	332;412;332	ENSP00000252336:D332G;ENSP00000363727:D412G;ENSP00000363725:D332G	ENSP00000252336:D332G	D	+	2	0	STARD8	67854716	0.995000	0.38212	0.886000	0.34754	0.744000	0.42396	3.846000	0.55888	1.629000	0.50426	0.486000	0.48141	GAC	STARD8-201	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057026.2		+	ENST00000252336.6	Missense_Mutation	SNP	X : 67937991 - 67937991 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	132	46
AGXT	189	broad.mit.edu	37	2	241808766	241808766	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241808766C>T	ENST00000307503.3	+	2	732	c.345C>T	c.(343-345)atC>atT	p.I115I		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	115					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CCGTGGACATCGGGGAGCGCA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	56	56			NA	NA	2		NA											NA				241808766		2203	4300	6503	SO:0001819	synonymous_variant			D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	189	189	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	oxalosis I, primary hyperoxaluria type 1, L-alanine: glyoxylate aminotransferase 1, serine:pyruvate aminotransferase, glycolicaciduria	604285		SPAT	NA	2039493, 2045108	Standard	NM_000030	NM_000030	NA	Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.345C>T	2.37:g.241808766C>T		NA	Q53QU6	37	CCDS2543.1																																																																																			AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257186.1		+	ENST00000307503.3	Silent	SNP	2 : 241808766 - 241808766 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	451	66
HFM1	164045	broad.mit.edu	37	1	91841173	91841173	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91841173T>C	ENST00000370425.3	-	12	1605	c.1507A>G	c.(1507-1509)Aac>Gac	p.N503D	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.N182D	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	503							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TCAGTTTGGTTACTACTGCAG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	126	129			NA	NA	1		NA											NA				91841173		1858	4095	5953	SO:0001583	missense			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669	164045	164045			20193	protein-coding gene	gene with protein product		615684	SEC63 domain containing 1	SEC63D1	NA	14702039, 17286053	Standard	NM_001017975	XM_006710395	NA	Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.1507A>G	1.37:g.91841173T>C	ENSP00000359454:p.Asn503Asp	NA	B1B0B6|Q8N9Q0	37	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	T	12.05	1.822869	0.32237	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000370421;ENST00000541820	T;D	0.91237	-0.53;-2.81	5.4	4.2	0.49525	.	0.000000	0.48767	U	0.000167	T	0.80752	0.4683	M	0.73962	2.25	0.80722	D	1	P;P	0.44627	0.839;0.704	B;B	0.33521	0.118;0.165	T	0.80730	-0.1252	10	0.13853	T	0.58	.	12.0484	0.53493	0.0:0.0:0.1439:0.856	.	182;503	A6NGI5;A2PYH4	.;HFM1_HUMAN	D	503;182;187;536	ENSP00000359454:N503D;ENSP00000359453:N182D	ENSP00000359450:N187D	N	-	1	0	HFM1	91613761	1.000000	0.71417	0.953000	0.39169	0.238000	0.25445	5.046000	0.64226	2.057000	0.61298	0.460000	0.39030	AAC	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316716.2		-	ENST00000370425.3	Missense_Mutation	SNP	1 : 91841173 - 91841173 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	548	137
STX16	8675	broad.mit.edu	37	20	57248758	57248758	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57248758G>A	ENST00000371141.4	+	8	1588	c.864G>A	c.(862-864)caG>caA	p.Q288Q	STX16_ENST00000371132.4_Silent_p.Q267Q|STX16_ENST00000355957.5_Silent_p.Q271Q|STX16_ENST00000358029.4_Silent_p.Q284Q|STX16_ENST00000361770.5_Silent_p.Q271Q|STX16_ENST00000359617.4_Silent_p.Q235Q|STX16-NPEPL1_ENST00000530122.1_Silent_p.Q288Q|STX16_ENST00000496003.1_3'UTR|STX16_ENST00000361830.3_Silent_p.Q288Q	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	288	t-SNARE coiled-coil homology.				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			GTTTGAAACAGCTTCACAAGG	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	84	87			NA	NA	20		NA											NA				57248758		2203	4300	6503	SO:0001819	synonymous_variant			AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222	8675	8675			11431	protein-coding gene	gene with protein product		603666			NA	9464276, 9587053, 15800843	Standard	NM_001001433	NM_003763	NA	Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.864G>A	20.37:g.57248758G>A		NA	A6NN69|B7ZBN1|B7ZBN2|B7ZBN3|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	37	CCDS13468.1																																																																																			STX16-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080517.2		+	ENST00000371141.4	Silent	SNP	20 : 57248758 - 57248758 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	218	34
REST	5978	broad.mit.edu	37	4	57797303	57797303	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57797303C>A	ENST00000309042.7	+	4	2593	c.2279C>A	c.(2278-2280)cCt>cAt	p.P760H		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	760	Pro-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	p.M753_P768delMEVVQKEPVKIELSPP(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CAGAAGGAACCTGTTAAGATA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Deletion - In frame(1)	central_nervous_system(1)											255	270	264			NA	NA	4		NA											NA				57797303		2203	4300	6503	SO:0001583	missense			U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093	5978	5978			9966	protein-coding gene	gene with protein product		600571			NA	7871435, 7697725	Standard	NM_005612	NM_005612	NA	Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.2279C>A	4.37:g.57797303C>A	ENSP00000311816:p.Pro760His	NA	A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	37	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.442522	0.25987	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.08896	3.04	2.6	-0.484	0.12071	.	1.788680	0.03034	N	0.152446	T	0.06280	0.0162	N	0.08118	0	0.09310	N	1	D;D	0.61697	0.99;0.983	P;B	0.50192	0.634;0.431	T	0.11155	-1.0599	10	0.27785	T	0.31	0.3888	2.2674	0.04082	0.1999:0.4953:0.1803:0.1245	.	737;760	F8WAN5;Q13127	.;REST_HUMAN	H	760;737	ENSP00000311816:P760H	ENSP00000311816:P760H	P	+	2	0	REST	57492060	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.100000	0.15231	-0.167000	0.10871	-0.479000	0.04858	CCT	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250691.2		+	ENST00000309042.7	Missense_Mutation	SNP	4 : 57797303 - 57797303 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2084	48
SUPT5H	6829	broad.mit.edu	37	19	39964966	39964966	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39964966C>T	ENST00000599117.1	+	28	3111	c.2744C>T	c.(2743-2745)gCg>gTg	p.A915V	SUPT5H_ENST00000402194.2_Missense_Mutation_p.A911V|SUPT5H_ENST00000359191.6_Missense_Mutation_p.A911V|SUPT5H_ENST00000598725.1_Missense_Mutation_p.A915V|SUPT5H_ENST00000432763.2_Missense_Mutation_p.A915V			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	915	10 X 8 AA approximate tandem repeats of P-[TS]-P-S-P-[QA]-[SG]-Y, motif CTR2.|Pro-rich.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CACCAGGTGGCGCCAAGCCCA	0.632		NA									OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	76	78			NA	NA	19		NA											NA				39964966		2203	4300	6503	SO:0001583	missense			U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235	6829	6829			11469	protein-coding gene	gene with protein product		602102	suppressor of Ty (S.cerevisiae) 5 homolog		NA	8975720	Standard	NM_003169	NM_003169	NA	Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.2744C>T	19.37:g.39964966C>T	ENSP00000470252:p.Ala915Val	889	O43279|Q59G52|Q99639	37	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898806	0.72639	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	4.83	4.83	0.62350	.	0.056626	0.64402	D	0.000002	T	0.67192	0.2867	M	0.62723	1.935	0.80722	D	1	D;D;D	0.61697	0.977;0.986;0.99	B;P;P	0.54431	0.269;0.752;0.57	T	0.67764	-0.5586	8	.	.	.	-28.4569	16.8495	0.85990	0.0:1.0:0.0:0.0	.	707;911;915	B4DJK4;O00267-2;O00267	.;.;SPT5H_HUMAN	V	915;911;893;915	.	.	A	+	2	0	SUPT5H	44656806	1.000000	0.71417	0.998000	0.56505	0.823000	0.46562	5.707000	0.68370	2.515000	0.84797	0.462000	0.41574	GCG	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464918.1		+	ENST00000599117.1	Missense_Mutation	SNP	19 : 39964966 - 39964966 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	64
SPATA31A3	727830	broad.mit.edu	37	9	40702763	40702763	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:40702763G>A	ENST00000356699.5	+	4	449	c.420G>A	c.(418-420)gaG>gaA	p.E140E	SPATA31A3_ENST00000463536.1_3'UTR	NM_001083124.1	NP_001076593.1			SPATA31 subfamily A, member 3	NA											NA						CCTCTCATGAGCCTATGGAAG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	68	64			NA	NA	9		NA											NA				40702763		1906	4083	5989	SO:0001819	synonymous_variant					9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926		727830	727830			32003	protein-coding gene	gene with protein product			family with sequence similarity 75, member A3	FAM75A3	NA	20850414	Standard	NM_001083124	NM_001083124	NA	Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.420G>A	9.37:g.40702763G>A		NA		37	CCDS47969.1																																																																																			SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000036919.1		+	ENST00000356699.5	Silent	SNP	9 : 40702763 - 40702763 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1159	117
FCGR3B	2215	broad.mit.edu	37	1	161596176	161596176	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161596176C>A	ENST00000367964.2	-	5	457	c.336G>T	c.(334-336)caG>caT	p.Q112H	FCGR2B_ENST00000403078.3_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.Q148H|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3A_ENST00000540048.1_Intron|FCGR3B_ENST00000294800.3_Missense_Mutation_p.Q112H|FCGR2B_ENST00000367960.5_Intron	NM_000570.4|NM_001271036.1	NP_000561.3|NP_001257965.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	112					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACCGAGGGGCCTGGAGCAACA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	40	39			NA	NA	1		NA											NA				161596176		2191	4299	6490	SO:0001583	missense			J04162	CCDS41433.1, CCDS58040.1, CCDS72960.1, CCDS72961.1	1q23	2013-01-11	2005-02-02		ENSG00000162747	ENSG00000162747	2215	2215		CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	3620	protein-coding gene	gene with protein product		610665	Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	FCGR3, FCG3	NA	2139735	Standard	NM_000570	NM_000570	NA	Approved	CD16, CD16b	uc009wul.3	O75015	OTTHUMG00000074099	ENST00000367964.2:c.336G>T	1.37:g.161596176C>A	ENSP00000356941:p.Gln112His	NA		37	CCDS41433.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	19.28|19.28	3.797116|3.797116	0.70567|0.70567	.|.	.|.	ENSG00000162747|ENSG00000162747	ENST00000421702|ENST00000367964;ENST00000294800;ENST00000531221;ENST00000534776	.|T;T;T;T	.|0.13538	.|2.58;2.58;2.58;3.61	2.47|2.47	2.47|2.47	0.30058|0.30058	.|Immunoglobulin-like fold (1);	.|0.000000	.|0.49305	.|D	.|0.000149	T|T	0.31389|0.31389	0.0795|0.0795	M|M	0.93550|0.93550	3.43|3.43	0.31755|0.31755	N|N	0.634041|0.634041	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	T|T	0.20472|0.20472	-1.0274|-1.0274	5|10	.|0.87932	.|D	.|0	.|.	8.4977|8.4977	0.33138|0.33138	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|112	.|O75015	.|FCG3B_HUMAN	C|H	133|112;112;148;95	.|ENSP00000356941:Q112H;ENSP00000294800:Q112H;ENSP00000433642:Q148H;ENSP00000437084:Q95H	.|ENSP00000294800:Q112H	G|Q	-|-	1|3	0|2	FCGR3B|FCGR3B	159862800|159862800	0.274000|0.274000	0.24191|0.24191	0.635000|0.635000	0.29338|0.29338	0.845000|0.845000	0.48019|0.48019	0.374000|0.374000	0.20501|0.20501	1.383000|1.383000	0.46405|0.46405	0.393000|0.393000	0.25936|0.25936	GGC|CAG	FCGR3B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383000.1		-	ENST00000367964.2	Missense_Mutation	SNP	1 : 161596176 - 161596176 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	213	36
ESPL1	9700	broad.mit.edu	37	12	53675330	53675330	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53675330G>A	ENST00000257934.4	+	13	2630	c.2539G>A	c.(2539-2541)Gat>Aat	p.D847N	ESPL1_ENST00000552462.1_Missense_Mutation_p.D847N	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	847					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GAAGCATCTCGATCAGACTAC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(53;1069 1201 2587 5382)							NA				0													186	155	165			NA	NA	12		NA											NA				53675330		2203	4300	6503	SO:0001583	missense			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	9700	9700	3.4.22.49		16856	protein-coding gene	gene with protein product	separin, separase, separin, cysteine protease	604143	extra spindle poles like 1 (S. cerevisiae)		NA	8724849, 16258266	Standard	NM_012291	NM_012291	NA	Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.2539G>A	12.37:g.53675330G>A	ENSP00000257934:p.Asp847Asn	NA		37	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803375	0.31869	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.13196	2.61;2.61	5.1	1.28	0.21552	.	0.656930	0.16737	N	0.201619	T	0.23727	0.0574	M	0.72118	2.19	0.09310	N	1	D;D	0.69078	0.997;0.983	P;P	0.54431	0.752;0.57	T	0.06267	-1.0836	10	0.54805	T	0.06	.	7.4098	0.27011	0.346:0.0:0.654:0.0	.	58;847	B4DRU1;Q14674	.;ESPL1_HUMAN	N	847;522;847	ENSP00000257934:D847N;ENSP00000449831:D847N	ENSP00000257934:D847N	D	+	1	0	ESPL1	51961597	0.070000	0.21116	0.000000	0.03702	0.117000	0.20001	0.925000	0.28791	0.138000	0.18790	-0.224000	0.12420	GAT	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406899.2		+	ENST00000257934.4	Missense_Mutation	SNP	12 : 53675330 - 53675330 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	649	119
SEPP1	6414	broad.mit.edu	37	5	42800927	42800927	+	Silent	SNP	C	C	T	rs17857312		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:42800927C>T	ENST00000514985.1	-	5	1297	c.1041G>A	c.(1039-1041)ttG>ttA	p.L347L	SEPP1_ENST00000506577.1_Silent_p.L347L|CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000511224.1_Silent_p.L347L|SEPP1_ENST00000507920.1_3'UTR	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	347				L -> F (in Ref. 5; AAH46152).	response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						CAGCTGGAGGCAAACGTCACT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	81	82			NA	NA	5		NA											NA				42800927		1961	4155	6116	SO:0001819	synonymous_variant			BC040075	CCDS43311.1	5q31	2012-03-01				ENSG00000250722	6414	6414			10751	protein-coding gene	gene with protein product		601484			NA	8421687	Standard	NM_005410	NM_001085486	NA	Approved	SeP	uc011cpu.2	P49908		ENST00000514985.1:c.1041G>A	5.37:g.42800927C>T		NA	Q6PD59|Q6PI43|Q6PI87|Q6PJF9	37	CCDS43311.1																																																																																			SEPP1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	NA	protein_coding	OTTHUMT00000367483.1		-	ENST00000514985.1	Silent	SNP	5 : 42800927 - 42800927 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	434	46
OR5A2	219981	broad.mit.edu	37	11	59189727	59189727	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59189727C>T	ENST00000302040.4	-	1	722	c.700G>A	c.(700-702)Ggt>Agt	p.G234S		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						TTTGTCCTACCTGTAGCTGAG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	98	101			NA	NA	11		NA											NA				59189727		2201	4295	6496	SO:0001583	missense			AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324	219981	219981		GPCR / Class A : Olfactory receptors	15249	protein-coding gene	gene with protein product					NA		Standard	NM_001001954	NM_001001954	NA	Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.700G>A	11.37:g.59189727C>T	ENSP00000303834:p.Gly234Ser	NA	B9EH21|Q6IFF4|Q96RB0	37	CCDS31560.1	.	.	.	.	.	.	.	.	.	.	C	35	5.433395	0.96150	.	.	ENSG00000172324	ENST00000302040	T	0.00293	8.26	5.56	5.56	0.83823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35772	U	0.002992	T	0.00784	0.0026	M	0.80332	2.49	0.34768	D	0.733422	D	0.89917	1.0	D	0.97110	1.0	T	0.66555	-0.5894	10	0.72032	D	0.01	.	17.3816	0.87406	0.0:1.0:0.0:0.0	.	234	Q8NGI9	OR5A2_HUMAN	S	234	ENSP00000303834:G234S	ENSP00000303834:G234S	G	-	1	0	OR5A2	58946303	0.536000	0.26378	0.576000	0.28549	0.753000	0.42808	2.016000	0.40971	2.787000	0.95880	0.650000	0.86243	GGT	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394552.1		-	ENST00000302040.4	Missense_Mutation	SNP	11 : 59189727 - 59189727 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	238	41
C11orf30	56946	broad.mit.edu	37	11	76169327	76169327	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76169327G>A	ENST00000533248.1	+	5	427	c.388G>A	c.(388-390)Gct>Act	p.A130T	C11orf30_ENST00000524490.1_Missense_Mutation_p.A116T|C11orf30_ENST00000334736.3_Missense_Mutation_p.A116T|C11orf30_ENST00000343878.3_Missense_Mutation_p.A116T|C11orf30_ENST00000524767.1_Missense_Mutation_p.A130T|C11orf30_ENST00000525919.1_Missense_Mutation_p.A116T|C11orf30_ENST00000529032.1_Missense_Mutation_p.A116T|C11orf30_ENST00000525038.1_Missense_Mutation_p.A130T			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	116	Interaction with BRCA2.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TACTGTAACAGCTAATGCTGT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	104	105			NA	NA	11		NA											NA				76169327		2200	4292	6492	SO:0001583	missense			AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636	56946	56946			18071	protein-coding gene	gene with protein product		608574			NA		Standard	NM_020193	XM_005274106	NA	Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000533248.1:c.388G>A	11.37:g.76169327G>A	ENSP00000433634:p.Ala130Thr	NA	Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	37		.	.	.	.	.	.	.	.	.	.	G	26.3	4.728817	0.89390	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.79381	0.4436	M	0.69358	2.11	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.993;0.993;0.993;0.999;1.0;1.0;0.997;1.0;0.997	D;D;D;D;D;D;D;D;D	0.91635	0.984;0.984;0.984;0.997;0.999;0.998;0.99;0.998;0.971	T	0.78753	-0.2081	9	0.56958	D	0.05	-9.4108	20.1133	0.97917	0.0:0.0:1.0:0.0	.	130;130;130;116;116;116;116;116;116	B7ZKT8;B7ZKU2;B7ZKU0;Q7Z589-2;F5H2F0;Q17RM7;E9PMC9;Q7Z589;B4E1Z2	.;.;.;.;.;.;.;EMSY_HUMAN;.	T	116;116;116;116;130;130;116;130;116	.	ENSP00000334130:A116T	A	+	1	0	C11orf30	75846975	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.869000	0.99810	2.762000	0.94881	0.591000	0.81541	GCT	C11orf30-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000383204.1		+	ENST00000533248.1	Missense_Mutation	SNP	11 : 76169327 - 76169327 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	455	81
TEKT4	150483	broad.mit.edu	37	2	95537712	95537712	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95537712C>A	ENST00000295201.4	+	1	525	c.388C>A	c.(388-390)Ctg>Atg	p.L130M	TEKT4_ENST00000427593.2_Missense_Mutation_p.L130M|AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	130					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GGAGCGCGCCCTGGACGCCAC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	15	16			NA	NA	2		NA											NA				95537712		2190	4283	6473	SO:0001583	missense			AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060	150483	150483			31012	protein-coding gene	gene with protein product					NA		Standard	NM_144705	XM_005263876	NA	Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.388C>A	2.37:g.95537712C>A	ENSP00000295201:p.Leu130Met	NA		37	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	12.90	2.077103	0.36662	.	.	ENSG00000163060	ENST00000295201;ENST00000427593	T;T	0.04406	3.63;3.63	1.84	1.84	0.25277	.	0.000000	0.64402	D	0.000002	T	0.17577	0.0422	M	0.85462	2.755	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	T	0.00638	-1.1632	10	0.56958	D	0.05	-0.3095	4.3788	0.11284	0.0:0.7866:0.0:0.2134	.	130	Q8WW24	TEKT4_HUMAN	M	130	ENSP00000295201:L130M;ENSP00000407596:L130M	ENSP00000295201:L130M	L	+	1	2	TEKT4	94901439	0.968000	0.33430	0.996000	0.52242	0.156000	0.22039	1.976000	0.40579	1.015000	0.39444	0.456000	0.33151	CTG	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252777.1		+	ENST00000295201.4	Missense_Mutation	SNP	2 : 95537712 - 95537712 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	104	17
METTL2A	339175	broad.mit.edu	37	17	60518112	60518112	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60518112A>G	ENST00000311506.5	+	6	840	c.804A>G	c.(802-804)ccA>ccG	p.P268P		NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	268							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			CAATTGTTCCAGACAAGTAAG	0.433		NA											A	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	LOWCOV,EXOME	NA	NA	0.001	SNP								NA				0													232	226	228			NA	NA	17		NA											NA				60518112		2203	4300	6503	SO:0001819	synonymous_variant			AK000991	CCDS45752.1	17q23.3	2012-12-20		2006-02-10	ENSG00000087995	ENSG00000087995	339175	339175			25755	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_181725	NM_181725	NA	Approved	FLJ12760, METTL2	uc002izv.2	Q96IZ6	OTTHUMG00000164527	ENST00000311506.5:c.804A>G	17.37:g.60518112A>G		NA	A6NNC4|Q9H9G9|Q9NUI8|Q9P0B5	37	CCDS45752.1																																																																																			METTL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445130.1		+	ENST00000311506.5	Silent	SNP	17 : 60518112 - 60518112 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	969	163
RP11-1084J3.4	0	broad.mit.edu	37	5	34033554	34033554	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:34033554C>T	ENST00000382079.3	-	3	232	c.158G>A	c.(157-159)gGa>gAa	p.G53E	C1QTNF3_ENST00000382065.3_Missense_Mutation_p.G142E|C1QTNF3_ENST00000231338.7_Missense_Mutation_p.G69E						69											NA						GCCATTGTTTCCATGGTTTCC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	141	140			NA	NA	5		NA											NA				34033554		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000382079.3:c.158G>A	5.37:g.34033554C>T	ENSP00000371511:p.Gly53Glu	NA		37		.	.	.	.	.	.	.	.	.	.	C	26.4	4.732027	0.89390	.	.	ENSG00000082196	ENST00000382056;ENST00000382065;ENST00000231338	D;D	0.99353	-5.77;-5.77	5.39	5.39	0.77823	.	.	.	.	.	D	0.99670	0.9877	H	0.96889	3.9	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.99	D	0.97591	1.0117	9	0.87932	D	0	.	19.5146	0.95157	0.0:1.0:0.0:0.0	.	142;69	Q0VAN4;Q9BXJ4	.;C1QT3_HUMAN	E	46;142;69	ENSP00000371497:G142E;ENSP00000231338:G69E	ENSP00000231338:G69E	G	-	2	0	C1QTNF3	34069311	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.445000	0.66594	2.690000	0.91761	0.655000	0.94253	GGA	RP11-1084J3.4-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000472964.1		-	ENST00000382079.3	Missense_Mutation	SNP	5 : 34033554 - 34033554 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	479	83
EML2	24139	broad.mit.edu	37	19	46124788	46124788	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46124788G>A	ENST00000589876.1	-	10	975	c.949C>T	c.(949-951)Cgg>Tgg	p.R317W	EML2_ENST00000536630.1_Missense_Mutation_p.R464W|EML2_ENST00000245925.3_Missense_Mutation_p.R317W|EML2_ENST00000587152.1_Missense_Mutation_p.R518W			O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	317					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		AGGACCACCCGCCGATCACGG	0.687		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	19		NA											NA				46124788		2203	4300	6503	SO:0001583	missense			AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746	24139	24139		WD repeat domain containing	18035	protein-coding gene	gene with protein product	echinoderm MT-associated protein (EMAP)-like protein 70, microtubule-associated protein like echinoderm EMAP				NA	11694528, 10521658	Standard	NM_012155	NM_012155	NA	Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000589876.1:c.949C>T	19.37:g.46124788G>A	ENSP00000464789:p.Arg317Trp	NA	Q59EN8|Q8N5A2|Q9UG50	37		.	.	.	.	.	.	.	.	.	.	G	16.59	3.164803	0.57476	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000399594	T;T;T	0.41758	0.99;0.99;4.95	3.2	0.782	0.18567	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.138361	0.45361	D	0.000373	T	0.56441	0.1985	M	0.65975	2.015	0.36928	D	0.891741	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.989;0.971;0.985	T	0.59794	-0.7387	10	0.62326	D	0.03	-16.0349	8.6541	0.34053	0.0:0.0:0.4052:0.5948	.	317;483;464;317	B7Z918;B7Z3Q9;B7Z3I2;O95834	.;.;.;EMAL2_HUMAN	W	464;317;475	ENSP00000442365:R464W;ENSP00000245925:R317W;ENSP00000382503:R475W	ENSP00000245925:R317W	R	-	1	2	EML2	50816628	0.012000	0.17670	0.965000	0.40720	0.891000	0.51852	0.382000	0.20635	0.042000	0.15717	0.195000	0.17529	CGG	EML2-008	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000459605.1		-	ENST00000589876.1	Missense_Mutation	SNP	19 : 46124788 - 46124788 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	505	104
DNAH1	25981	broad.mit.edu	37	3	52357823	52357823	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52357823G>A	ENST00000420323.2	+	3	594		c.e3-1			NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	NA					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.?(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TTTGGTTTCAGGAGGTATGTC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Unknown(1)	ovary(1)											48	49	49			NA	NA	3		NA											NA				52357823		1916	4132	6048	SO:0001630	splice_region_variant			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841	25981	25981		Axonemal dyneins	2940	protein-coding gene	gene with protein product		603332	dynein, axonemal, heavy polypeptide 1		NA	8812413, 9256245	Standard	NM_015512	NM_015512	NA	Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.334-1G>A	3.37:g.52357823G>A		NA	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633947	0.29068	.	.	ENSG00000114841	ENST00000420323	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1855	0.86866	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH1	52332863	1.000000	0.71417	0.960000	0.40013	0.038000	0.13279	5.952000	0.70282	2.650000	0.89964	0.655000	0.94253	.	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350816.1	Intron	+	ENST00000420323.2	Splice_Site	SNP	3 : 52357823 - 52357823 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	44	7
CNPY1	285888	broad.mit.edu	37	7	155301652	155301652	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:155301652T>G	ENST00000321736.5	-	2	243	c.81A>C	c.(79-81)aaA>aaC	p.K27N	CNPY1_ENST00000406197.1_Missense_Mutation_p.K27N	NM_001103176.1	NP_001096646.1	Q3B7I2	CNPY1_HUMAN	canopy FGF signaling regulator 1	27										breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CTTGGTATATTTTGTCTCCTT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	73	74			NA	NA	7		NA											NA				155301652		1802	4071	5873	SO:0001583	missense				CCDS43684.1	7q36.3	2014-02-12	2013-07-23		ENSG00000146910	ENSG00000146910	285888	285888			27786	protein-coding gene	gene with protein product		612493	canopy 1 homolog (zebrafish)		NA	16488878	Standard	XM_001129537	NM_001103176	NA	Approved		uc003wmc.1	Q3B7I2	OTTHUMG00000151353	ENST00000321736.5:c.81A>C	7.37:g.155301652T>G	ENSP00000317439:p.Lys27Asn	NA	A6NGX3	37	CCDS43684.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.501138	0.26861	.	.	ENSG00000146910	ENST00000406197;ENST00000321736	T;T	0.35421	1.31;1.31	4.85	-0.421	0.12332	.	0.372425	0.28332	N	0.015735	T	0.20455	0.0492	.	.	.	0.09310	N	1	B	0.27882	0.192	B	0.34722	0.188	T	0.12708	-1.0537	9	0.29301	T	0.29	-2.7614	0.481	0.00547	0.2498:0.1441:0.2583:0.3478	.	27	Q3B7I2	CNPY1_HUMAN	N	27	ENSP00000384514:K27N;ENSP00000317439:K27N	ENSP00000317439:K27N	K	-	3	2	CNPY1	154994413	0.271000	0.24162	0.204000	0.23530	0.583000	0.36354	0.016000	0.13377	-0.336000	0.08438	0.455000	0.32223	AAA	CNPY1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322335.1		-	ENST00000321736.5	Missense_Mutation	SNP	7 : 155301652 - 155301652 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	436	91
HK3	3101	broad.mit.edu	37	5	176318184	176318184	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176318184C>A	ENST00000292432.5	-	4	359	c.268G>T	c.(268-270)Gac>Tac	p.D90Y		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	90	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCACGAAGTCTCCTTGCTCT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	45	44			NA	NA	5		NA											NA				176318184		2203	4300	6503	SO:0001583	missense				CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	3101	3101	2.7.1.1		4925	protein-coding gene	gene with protein product		142570			NA	8812439	Standard		NM_002115	NA	Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.268G>T	5.37:g.176318184C>A	ENSP00000292432:p.Asp90Tyr	NA	Q8N1E7	37	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	C	9.078	0.998600	0.19121	.	.	ENSG00000160883	ENST00000292432	D	0.98617	-5.03	4.96	3.14	0.36123	Hexokinase, N-terminal (1);	0.207799	0.34046	N	0.004301	D	0.98661	0.9551	M	0.71206	2.165	0.36971	D	0.893828	D	0.89917	1.0	D	0.91635	0.999	D	0.99928	1.1298	10	0.87932	D	0	-27.9387	9.3444	0.38100	0.0:0.7609:0.0:0.2391	.	90	P52790	HXK3_HUMAN	Y	90	ENSP00000292432:D90Y	ENSP00000292432:D90Y	D	-	1	0	HK3	176250790	0.787000	0.28750	0.662000	0.29724	0.329000	0.28539	1.205000	0.32308	1.222000	0.43521	0.561000	0.74099	GAC	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253428.1		-	ENST00000292432.5	Missense_Mutation	SNP	5 : 176318184 - 176318184 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	431	113
WIZ	58525	broad.mit.edu	37	19	15558986	15558986	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15558986G>A	ENST00000263381.7	-	2	346	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W	WIZ_ENST00000389282.4_Missense_Mutation_p.R45W	NM_021241.2	NP_067064.2	O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	NA						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CGGGTGGACCGGAAGATGCCA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	72	69			NA	NA	19		NA											NA				15558986		1980	4136	6116	SO:0001583	missense			AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451	58525	58525		Zinc fingers, C2H2-type	30917	protein-coding gene	gene with protein product			WIZ zinc finger		NA	9795207, 12226707	Standard	NM_021241	NM_021241	NA	Approved	ZNF803	uc002nbb.4	O95785		ENST00000263381.7:c.133C>T	19.37:g.15558986G>A	ENSP00000263381:p.Arg45Trp	NA	Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	37	CCDS42516.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.691988	0.48097	.	.	ENSG00000011451	ENST00000389282;ENST00000263381	T	0.03635	3.86	3.67	3.67	0.42095	.	.	.	.	.	T	0.03011	0.0089	.	.	.	0.80722	D	1	P	0.47350	0.894	B	0.31686	0.134	T	0.54569	-0.8274	8	0.62326	D	0.03	-5.3586	11.0863	0.48089	0.0:0.0:1.0:0.0	.	45	O95785-2	.	W	45	ENSP00000373933:R45W	ENSP00000263381:R45W	R	-	1	2	WIZ	15419986	0.986000	0.35501	0.974000	0.42286	0.738000	0.42128	2.482000	0.45224	2.043000	0.60533	0.561000	0.74099	CGG	WIZ-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000472124.1		-	ENST00000263381.7	Missense_Mutation	SNP	19 : 15558986 - 15558986 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	628	115
DLK1	8788	broad.mit.edu	37	14	101200802	101200802	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:101200802G>T	ENST00000341267.4	+	5	963	c.721G>T	c.(721-723)Ggt>Tgt	p.G241C	DLK1_ENST00000331224.6_Intron	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	241	EGF-like 6.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CGAGTTCACAGGTCTCACCTG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	43	41			NA	NA	14		NA											NA				101200802		2202	4300	6502	SO:0001583	missense			U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559	8788	8788			2907	protein-coding gene	gene with protein product		176290	delta-like homolog (Drosophila)		NA	8095043, 7925474	Standard		NM_003836	NA	Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.721G>T	14.37:g.101200802G>T	ENSP00000340292:p.Gly241Cys	NA	P15803|Q96DW5	37	CCDS9963.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953983	0.73902	.	.	ENSG00000185559	ENST00000341267	D	0.99121	-5.45	4.46	4.46	0.54185	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99651	0.9871	H	0.99404	4.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97095	0.9793	9	.	.	.	.	16.1202	0.81346	0.0:0.0:1.0:0.0	.	241	P80370	DLK1_HUMAN	C	241	ENSP00000340292:G241C	.	G	+	1	0	DLK1	100270555	1.000000	0.71417	0.175000	0.22980	0.825000	0.46686	9.183000	0.94887	2.031000	0.59945	0.491000	0.48974	GGT	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414389.1		+	ENST00000341267.4	Missense_Mutation	SNP	14 : 101200802 - 101200802 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	546	113
IGF2BP3	10643	broad.mit.edu	37	7	23391009	23391009	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23391009G>A	ENST00000258729.3	-	6	954	c.598C>T	c.(598-600)Ctg>Ttg	p.L200L	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	200	KH 1.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GGAACCAGCAGGCGCAGAGGC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	92	95			NA	NA	7		NA											NA				23391009		2203	4300	6503	SO:0001819	synonymous_variant			AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231	10643	10643		RNA binding motif (RRM) containing	28868	protein-coding gene	gene with protein product	IGF II mRNA binding protein 3, cancer/testis antigen 98	608259			NA	9891060, 9178771	Standard	NM_006547	NM_006547	NA	Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.598C>T	7.37:g.23391009G>A		NA	A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	37	CCDS5382.1																																																																																			IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250243.2		-	ENST00000258729.3	Silent	SNP	7 : 23391009 - 23391009 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	405	72
DLC1	10395	broad.mit.edu	37	8	12957094	12957094	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12957094G>A	ENST00000276297.4	-	9	3161	c.2752C>T	c.(2752-2754)Cgg>Tgg	p.R918W	DLC1_ENST00000520226.1_Missense_Mutation_p.R407W|DLC1_ENST00000358919.2_Missense_Mutation_p.R481W|DLC1_ENST00000512044.2_Missense_Mutation_p.R515W	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	918					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTGACTATCCGCTGCATCCCC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	76	79			NA	NA	8		NA											NA				12957094		2203	4300	6503	SO:0001583	missense			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741	10395	10395		Rho GTPase activating proteins, StAR-related lipid transfer (START) domain containing	2897	protein-coding gene	gene with protein product	StAR-related lipid transfer (START) domain containing 12	604258	deleted in liver cancer 1		NA	9605766, 11214970	Standard	NM_182643, NM_006094	NM_182643	NA	Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2752C>T	8.37:g.12957094G>A	ENSP00000276297:p.Arg918Trp	NA	O14868|O43199|Q7Z5R8|Q9C0E0|Q9H7A2	37	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751750	0.69533	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.06849	3.48;3.25;3.25;3.26	5.43	3.28	0.37604	.	0.000000	0.85682	D	0.000000	T	0.23410	0.0566	M	0.67953	2.075	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.998	D;P;P	0.64687	0.928;0.834;0.903	T	0.00507	-1.1699	10	0.87932	D	0	.	12.3702	0.55250	0.0:0.0:0.4075:0.5925	.	918;515;481	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	W	918;481;515;407	ENSP00000276297:R918W;ENSP00000351797:R481W;ENSP00000422595:R515W;ENSP00000428028:R407W	ENSP00000276297:R918W	R	-	1	2	DLC1	13001465	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.539000	0.53604	0.584000	0.29591	0.655000	0.94253	CGG	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207632.2		-	ENST00000276297.4	Missense_Mutation	SNP	8 : 12957094 - 12957094 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	293	23
AEBP1	165	broad.mit.edu	37	7	44153429	44153429	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44153429C>T	ENST00000223357.3	+	21	3351	c.3046C>T	c.(3046-3048)Cga>Tga	p.R1016*	AEBP1_ENST00000450684.2_Nonsense_Mutation_p.R591*	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1016	Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CCCCCAACAGCGACGCCTGCA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	92	90			NA	NA	7		NA											NA				44153429		2203	4300	6503	SO:0001587	stop_gained			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624	165	165			303	protein-coding gene	gene with protein product	aortic carboxypeptidase-like protein, adipocyte enhancer binding protein 1	602981	AE-binding protein 1		NA	8920928	Standard	NM_001129	NM_001129	NA	Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3046C>T	7.37:g.44153429C>T	ENSP00000223357:p.Arg1016*	NA	Q14113|Q59ER7|Q6ZSC7|Q7KZ79	37	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	C	43	9.986870	0.99312	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	.	.	.	5.33	2.51	0.30379	.	0.321128	0.27730	N	0.018100	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-37.3185	14.3421	0.66633	0.3866:0.6133:0.0:0.0	.	.	.	.	X	1016;591	.	ENSP00000223357:R1016X	R	+	1	2	AEBP1	44119954	0.002000	0.14202	0.748000	0.31131	0.801000	0.45260	1.374000	0.34283	0.230000	0.21059	-0.270000	0.10280	CGA	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250993.2		+	ENST00000223357.3	Nonsense_Mutation	SNP	7 : 44153429 - 44153429 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	729	132
CYP46A1	10858	broad.mit.edu	37	14	100158175	100158175	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100158175G>A	ENST00000261835.3	+	3	363	c.259G>A	c.(259-261)Gtc>Atc	p.V87I	CYP46A1_ENST00000423126.2_5'UTR|RP11-543C4.3_ENST00000555875.1_lincRNA	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	87					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CTCAGTCATCGTCACGAGTCC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	156	164			NA	NA	14		NA											NA				100158175		2203	4300	6503	SO:0001583	missense			AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530	10858	10858		Cytochrome P450s	2641	protein-coding gene	gene with protein product		604087	cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)	CYP46	NA	10377398	Standard		NM_006668	NA	Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.259G>A	14.37:g.100158175G>A	ENSP00000261835:p.Val87Ile	NA		37	CCDS9954.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.791|7.791	0.711580|0.711580	0.15306|0.15306	.|.	.|.	ENSG00000036530|ENSG00000036530	ENST00000380228|ENST00000261835	.|T	.|0.68181	.|-0.31	4.32|4.32	-0.929|-0.929	0.10444|0.10444	.|.	.|0.288191	.|0.32401	.|N	.|0.006142	T|T	0.43166|0.43166	0.1235|0.1235	N|N	0.20986|0.20986	0.625|0.625	0.80722|0.80722	D|D	1|1	.|B	.|0.14012	.|0.009	.|B	.|0.12837	.|0.008	T|T	0.17715|0.17715	-1.0360|-1.0360	5|10	.|0.09843	.|T	.|0.71	.|.	8.9458|8.9458	0.35758|0.35758	0.5097:0.0:0.4903:0.0|0.5097:0.0:0.4903:0.0	.|.	.|87	.|Q9Y6A2	.|CP46A_HUMAN	H|I	73|87	.|ENSP00000261835:V87I	.|ENSP00000261835:V87I	R|V	+|+	2|1	0|0	CYP46A1|CYP46A1	99227928|99227928	0.013000|0.013000	0.17824|0.17824	0.987000|0.987000	0.45799|0.45799	0.403000|0.403000	0.30841|0.30841	-0.464000|-0.464000	0.06688|0.06688	-0.298000|-0.298000	0.08921|0.08921	-1.119000|-1.119000	0.02030|0.02030	CGT|GTC	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413814.1		+	ENST00000261835.3	Missense_Mutation	SNP	14 : 100158175 - 100158175 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	385	75
GCDH	2639	broad.mit.edu	37	19	13004378	13004378	+	Missense_Mutation	SNP	C	C	T	rs139851890		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13004378C>T	ENST00000222214.5	+	6	627	c.416C>T	c.(415-417)tCg>tTg	p.S139L	GCDH_ENST00000457854.1_Missense_Mutation_p.S139L|GCDH_ENST00000591470.1_Missense_Mutation_p.S139L|GCDH_ENST00000422947.2_Missense_Mutation_p.S95L			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	139	Substrate binding.		S -> L (in GA1).		lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						GGCTACAGGTCGGCGATGAGT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(123;875 1636 7726 16444 26754)							NA				0			GRCh37	CM980855	GCDH	M	rs139851890	C	LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	130	98	109		416,416	5.2	1	19	dbSNP_134	109	0,8600		0,0,4300	no	missense,missense	GCDH	NM_000159.2,NM_013976.2	145,145	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging	139/439,139/429	13004378	1,13005	2203	4300	6503	SO:0001583	missense			AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	2639	2639	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	glutaryl-Coenzyme A dehydrogenase		NA	1438360, 8088809	Standard		NM_000159	NA	Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.416C>T	19.37:g.13004378C>T	ENSP00000222214:p.Ser139Leu	NA	A8K2Z2|O14719	37	CCDS12286.1	.	.	.	.	.	.	.	.	.	.	C	35	5.491649	0.96339	2.27E-4	0.0	ENSG00000105607	ENST00000457854;ENST00000222214;ENST00000421816;ENST00000422947	D;D;D	0.99652	-6.3;-6.3;-6.3	5.19	5.19	0.71726	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99597	0.9854	M	0.82323	2.585	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.985;1.0;1.0	D	0.98006	1.0363	10	0.87932	D	0	.	16.567	0.84601	0.0:1.0:0.0:0.0	.	95;106;139;139	B4DK85;B4DQF2;Q92947;Q92947-2	.;.;GCDH_HUMAN;.	L	139;139;106;95	ENSP00000394872:S139L;ENSP00000222214:S139L;ENSP00000394821:S95L	ENSP00000222214:S139L	S	+	2	0	GCDH	12865378	1.000000	0.71417	0.954000	0.39281	0.989000	0.77384	7.247000	0.78257	2.584000	0.87258	0.563000	0.77884	TCG	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451897.1		+	ENST00000222214.5	Missense_Mutation	SNP	19 : 13004378 - 13004378 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	437	51
ZNF41	7592	broad.mit.edu	37	X	47307548	47307548	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47307548G>A	ENST00000377065.4	-	5	2260	c.1621C>T	c.(1621-1623)Cac>Tac	p.H541Y	ZNF41_ENST00000397050.2_Missense_Mutation_p.H551Y|ZNF41_ENST00000313116.7_Missense_Mutation_p.H541Y	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	583						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				GTTTTCTGGTGTTTAATGAGA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	88	90			NA	NA	X		NA											NA				47307548		2203	4300	6503	SO:0001583	missense			X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124	7592	7592		Zinc fingers, C2H2-type, -	13107	protein-coding gene	gene with protein product		314995			NA	2037297	Standard	NM_153380	NM_007130	NA	Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.1621C>T	X.37:g.47307548G>A	ENSP00000366265:p.His541Tyr	NA	A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	37	CCDS14279.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.005915	0.54254	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	D;D;D	0.86769	-2.17;-2.17;-2.17	3.98	3.11	0.35812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37219	N	0.002200	D	0.94450	0.8214	H	0.95816	3.725	0.25229	N	0.989845	P;P;D;P;P	0.89917	0.635;0.635;1.0;0.817;0.848	B;B;D;B;P	0.83275	0.175;0.175;0.996;0.239;0.485	D	0.87312	0.2312	10	0.87932	D	0	.	8.9846	0.35986	0.115:0.0:0.885:0.0	.	541;543;551;575;583	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	Y	541;541;551	ENSP00000315173:H541Y;ENSP00000366265:H541Y;ENSP00000380243:H551Y	ENSP00000315173:H541Y	H	-	1	0	ZNF41	47192492	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	6.789000	0.75110	1.035000	0.39972	0.600000	0.82982	CAC	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056429.1		-	ENST00000377065.4	Missense_Mutation	SNP	X : 47307548 - 47307548 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	344	88
KIAA0556	23247	broad.mit.edu	37	16	27751850	27751850	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27751850C>A	ENST00000261588.4	+	15	2251	c.2232C>A	c.(2230-2232)atC>atA	p.I744I		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	744										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GCAGAAAAATCTGTGAGCCAC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	69	69			NA	NA	16		NA											NA				27751850		2197	4300	6497	SO:0001819	synonymous_variant			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578	23247	23247			29068	protein-coding gene	gene with protein product					NA	9628581	Standard	NM_015202	NM_015202	NA	Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.2232C>A	16.37:g.27751850C>A		NA	A7E2C2	37	CCDS32415.1																																																																																			KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000433724.1		+	ENST00000261588.4	Silent	SNP	16 : 27751850 - 27751850 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	690	151
FANCM	57697	broad.mit.edu	37	14	45645252	45645252	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45645252C>T	ENST00000542564.2	+	13	3295	c.3217C>T	c.(3217-3219)Cgt>Tgt	p.R1073C	FANCM_ENST00000267430.5_Missense_Mutation_p.R1099C			Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1099					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						ACCTAACAATCGTGTTCAAAT	0.353		NA						Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	52	52			NA	NA	14		NA											NA				45645252		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790	57697	57697		Fanconi anemia, complementation groups	23168	protein-coding gene	gene with protein product		609644	KIAA1596	KIAA1596	NA	10997877, 16116422	Standard	XM_048128	NM_020937	NA	Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000542564.2:c.3217C>T	14.37:g.45645252C>T	ENSP00000442493:p.Arg1073Cys	NA	Q3YFH9|Q8N9X6|Q9HCH6	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.096|2.096	-0.407123|-0.407123	0.04832|0.04832	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250|ENST00000554809	T;T;T|.	0.17854|.	2.84;2.84;2.25|.	5.41|5.41	3.54|3.54	0.40534|0.40534	.|.	1.403590|.	0.03757|.	N|.	0.257590|.	T|T	0.11196|0.11196	0.0273|0.0273	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	0.999999|0.999999	B;B|.	0.09022|.	0.001;0.002|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.26224|0.26224	-1.0109|-1.0109	10|5	0.34782|.	T|.	0.22|.	.|.	4.183|4.183	0.10385|0.10385	0.1626:0.5915:0.1576:0.0882|0.1626:0.5915:0.1576:0.0882	.|.	1073;1099|.	B2RTQ9;Q8IYD8|.	.;FANCM_HUMAN|.	C|L	1099;1073;615|31	ENSP00000267430:R1099C;ENSP00000442493:R1073C;ENSP00000452033:R615C|.	ENSP00000267430:R1099C|.	R|S	+|+	1|2	0|0	FANCM|FANCM	44715002|44715002	0.001000|0.001000	0.12720|0.12720	0.027000|0.027000	0.17364|0.17364	0.025000|0.025000	0.11179|0.11179	-0.008000|-0.008000	0.12788|0.12788	0.715000|0.715000	0.32103|0.32103	0.591000|0.591000	0.81541|0.81541	CGT|TCG	FANCM-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000410475.1		+	ENST00000542564.2	Missense_Mutation	SNP	14 : 45645252 - 45645252 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	398	71
SLITRK1	114798	broad.mit.edu	37	13	84455008	84455008	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:84455008T>G	ENST00000377084.2	-	1	1520	c.635A>C	c.(634-636)aAc>aCc	p.N212T		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	212	LRRCT 1.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTCCCAAGGGTTATCCTCTAG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	68	69			NA	NA	13		NA											NA				84455008		2203	4300	6503	SO:0001583	missense			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235	114798	114798			20297	protein-coding gene	gene with protein product		609678	leucine rich repeat containing 12	LRRC12	NA	14557068, 12975309	Standard	NM_052910	NM_001281503	NA	Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.635A>C	13.37:g.84455008T>G	ENSP00000366288:p.Asn212Thr	NA	Q5U5I6|Q96SF9	37	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	T	15.94	2.981595	0.53827	.	.	ENSG00000178235	ENST00000377084	T	0.65732	-0.17	4.72	4.72	0.59763	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86049	0.5840	H	0.98218	4.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.90728	0.4640	10	0.87932	D	0	-14.4397	13.1692	0.59589	0.0:0.0:0.0:1.0	.	212	Q96PX8	SLIK1_HUMAN	T	212	ENSP00000366288:N212T	ENSP00000366288:N212T	N	-	2	0	SLITRK1	83353009	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.868000	0.87116	1.992000	0.58205	0.459000	0.35465	AAC	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045396.1		-	ENST00000377084.2	Missense_Mutation	SNP	13 : 84455008 - 84455008 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	309	27
TUBE1	51175	broad.mit.edu	37	6	112397143	112397143	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112397143G>A	ENST00000368662.5	-	8	887	c.809C>T	c.(808-810)aCg>aTg	p.T270M	TUBE1_ENST00000604814.1_5'UTR	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	270					centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		GAATTACCTCGTTAGGTTGAG	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	100	105	104		809	5.7	1	6		104	1,8599	1.2+/-3.3	0,1,4299	no	missense	TUBE1	NM_016262.4	81	0,2,6501	AA,AG,GG	NA	0.0116,0.0227,0.0154	probably-damaging	270/476	112397143	2,13004	2203	4300	6503	SO:0001583	missense			AF201334	CCDS5100.1	6q21	2005-11-03			ENSG00000074935	ENSG00000074935	51175	51175		Tubulins	20775	protein-coding gene	gene with protein product		607345			NA	10620804	Standard	NM_016262	NM_016262	NA	Approved	dJ142L7.2, FLJ22589, TUBE	uc003pvq.3	Q9UJT0	OTTHUMG00000015382	ENST00000368662.5:c.809C>T	6.37:g.112397143G>A	ENSP00000357651:p.Thr270Met	NA	Q5H8W8|Q8NEG3	37	CCDS5100.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733802	0.89482	2.27E-4	1.16E-4	ENSG00000074935	ENST00000368662	T	0.73047	-0.71	5.7	5.7	0.88788	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.85682	D	0.000000	D	0.87853	0.6282	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90182	0.4243	10	0.87932	D	0	.	19.8407	0.96681	0.0:0.0:1.0:0.0	.	270	Q9UJT0	TBE_HUMAN	M	270	ENSP00000357651:T270M	ENSP00000357651:T270M	T	-	2	0	TUBE1	112503836	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.328000	0.96403	2.677000	0.91161	0.650000	0.86243	ACG	TUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041867.1		-	ENST00000368662.5	Missense_Mutation	SNP	6 : 112397143 - 112397143 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	467	90
PCDHA10	56139	broad.mit.edu	37	5	140235697	140235697	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140235697G>T	ENST00000307360.5	+	1	64	c.64G>T	c.(64-66)Gcc>Tcc	p.A22S	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A22S|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018901.2	NP_061724.1			protocadherin alpha 10	NA										NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCCTCGCAGCCTGGGAGGT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	69	66			NA	NA	5		NA											NA				140235697		2196	4273	6469	SO:0001583	missense			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120	56139	56139		Cadherins / Protocadherins : Clustered	8664	other	complex locus constituent	KIAA0345-like 4, ortholog to mouse CNR8	606316		CNRS8	NA	10380929	Standard	NM_018901	NM_018901	NA	Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.64G>T	5.37:g.140235697G>T	ENSP00000304234:p.Ala22Ser	NA		37	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	1.757	-0.487865	0.04352	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.54675	0.56;0.66	4.31	-2.66	0.06077	.	.	.	.	.	T	0.37544	0.1007	L	0.49513	1.565	0.09310	N	1	B;B;P	0.36789	0.272;0.023;0.57	B;B;B	0.33750	0.169;0.023;0.142	T	0.21075	-1.0256	9	0.21540	T	0.41	.	6.4531	0.21914	0.1416:0.0:0.3836:0.4747	.	22;22;22	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	S	22	ENSP00000421030:A22S;ENSP00000304234:A22S	ENSP00000304234:A22S	A	+	1	0	PCDHA10	140215881	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.159000	0.10056	-0.740000	0.04803	-0.410000	0.06199	GCC	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372895.2		+	ENST00000307360.5	Missense_Mutation	SNP	5 : 140235697 - 140235697 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	626	118
ENPP2	5168	broad.mit.edu	37	8	120575129	120575129	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120575129G>A	ENST00000522167.1	-	13	1379	c.1294C>T	c.(1294-1296)Cct>Tct	p.P432S	ENPP2_ENST00000522826.1_Missense_Mutation_p.P822S|ENPP2_ENST00000075322.6_Missense_Mutation_p.P797S|ENPP2_ENST00000427067.2_Missense_Mutation_p.P818S|ENPP2_ENST00000259486.6_Missense_Mutation_p.P849S			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	797					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GGCCGGTGAGGCAGGATGAAG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(20;305 879 2501 4818 31020)							NA				0													127	109	115			NA	NA	8		NA											NA				120575129		2203	4300	6503	SO:0001583	missense			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	5168	5168	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	autotaxin	601060		PDNP2	NA	8586446	Standard		NM_001040092	NA	Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000522167.1:c.1294C>T	8.37:g.120575129G>A	ENSP00000429476:p.Pro432Ser	NA	A8UHA1|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	37		.	.	.	.	.	.	.	.	.	.	G	25.0	4.592355	0.86953	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27	5.8	4.93	0.64822	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.000000	0.85682	D	0.000000	T	0.65780	0.2724	M	0.88640	2.97	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.995;1.0;0.997;1.0	D;D;D;D;D	0.78314	0.991;0.965;0.982;0.967;0.99	T	0.73852	-0.3852	10	0.87932	D	0	.	14.6138	0.68534	0.0694:0.0:0.9306:0.0	.	335;822;797;849;432	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	S	849;818;432;822;797	ENSP00000259486:P849S;ENSP00000403315:P818S;ENSP00000429476:P432S;ENSP00000428291:P822S;ENSP00000075322:P797S	ENSP00000075322:P797S	P	-	1	0	ENPP2	120644310	1.000000	0.71417	0.932000	0.37286	0.906000	0.53458	9.750000	0.98875	1.451000	0.47736	0.650000	0.86243	CCT	ENPP2-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000381388.1		-	ENST00000522167.1	Missense_Mutation	SNP	8 : 120575129 - 120575129 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	322	54
BRCA2	675	broad.mit.edu	37	13	32912529	32912529	+	Missense_Mutation	SNP	C	C	A	rs80359421		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32912529C>A	ENST00000380152.3	+	11	4270	c.4037C>A	c.(4036-4038)aCt>aAt	p.T1346N	BRCA2_ENST00000544455.1_Missense_Mutation_p.T1346N			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1346					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAAATGATACTGTTTGTATT	0.328		NA	D, Mis, N, F, S		breast, ovarian, pancreatic	breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		L, E	0			GRCh37	CD993687	BRCA2	D	rs80359421						46	47	47			NA	NA	13		NA											NA				32912529		2202	4299	6501	SO:0001583	missense	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618	675	675		Fanconi anemia, complementation groups	1101	protein-coding gene	gene with protein product	BRCA1/BRCA2-containing complex, subunit 2	600185	Fanconi anemia, complementation group D1	FANCD1, FACD, FANCD	NA	8091231, 7581463, 15057823	Standard	NM_000059	NM_000059	NA	Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.4037C>A	13.37:g.32912529C>A	ENSP00000369497:p.Thr1346Asn	NA	O00183|O15008|Q13879|Q5TBJ7	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	C	5.915	0.352859	0.11182	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00776	5.71;5.71	4.89	0.778	0.18543	.	0.716618	0.13593	N	0.376425	T	0.01765	0.0056	M	0.72118	2.19	0.09310	N	1	D	0.60160	0.987	P	0.53912	0.737	T	0.47459	-0.9116	10	0.48119	T	0.1	.	2.8585	0.05579	0.3635:0.2964:0.256:0.0841	.	1346	P51587	BRCA2_HUMAN	N	1346	ENSP00000369497:T1346N;ENSP00000439902:T1346N	ENSP00000369497:T1346N	T	+	2	0	BRCA2	31810529	0.000000	0.05858	0.003000	0.11579	0.137000	0.21094	-0.224000	0.09164	0.307000	0.22880	-0.262000	0.10625	ACT	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046000.2		+	ENST00000380152.3	Missense_Mutation	SNP	13 : 32912529 - 32912529 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	236	52
DLG4	1742	broad.mit.edu	37	17	7106591	7106591	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7106591C>A	ENST00000399510.2	-	9	1544	c.692G>T	c.(691-693)aGc>aTc	p.S231I	DLG4_ENST00000485100.1_Missense_Mutation_p.S185I|DLG4_ENST00000399506.2_Missense_Mutation_p.S188I|DLG4_ENST00000302955.6_Missense_Mutation_p.S185I	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	188	PDZ 2.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						TACATAGATGCTATTATCTCC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	97	99			NA	NA	17		NA											NA				7106591		2031	4204	6235	SO:0001583	missense			U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535	1742	1742			2903	protein-coding gene	gene with protein product		602887			NA	9286702	Standard	NM_001365	NM_001128827	NA	Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399510.2:c.692G>T	17.37:g.7106591C>A	ENSP00000382428:p.Ser231Ile	NA	B7Z1S1|Q92941|Q9UKK8	37	CCDS45599.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360385	0.82353	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674;ENST00000451807;ENST00000447163	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.24	5.24	0.73138	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.51924	0.1703	L	0.56340	1.77	0.58432	D	0.999998	D;D;D;D;D	0.76494	0.986;0.97;0.988;0.961;0.999	D;D;D;D;D	0.83275	0.989;0.961;0.944;0.945;0.996	T	0.53308	-0.8457	9	0.87932	D	0	.	16.3121	0.82883	0.0:1.0:0.0:0.0	.	228;188;185;185;231	B9EGL1;P78352;G5E939;O14909;P78352-2	.;DLG4_HUMAN;.;.;.	I	188;185;231;231;128;231;221;218	ENSP00000382425:S188I;ENSP00000307471:S185I;ENSP00000382428:S231I;ENSP00000388122:S218I	ENSP00000293813:S231I	S	-	2	0	DLG4	7047315	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.484000	0.81180	2.447000	0.82792	0.557000	0.71058	AGC	DLG4-001	KNOWN	non_canonical_TEC|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000259418.2		-	ENST00000399510.2	Missense_Mutation	SNP	17 : 7106591 - 7106591 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	190	29
EFTUD2	9343	broad.mit.edu	37	17	42953350	42953350	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42953350G>T	ENST00000426333.2	-	10	1118	c.821C>A	c.(820-822)gCt>gAt	p.A274D	EFTUD2_ENST00000591382.1_Missense_Mutation_p.A274D|EFTUD2_ENST00000402521.3_Missense_Mutation_p.A239D|EFTUD2_ENST00000592576.1_Missense_Mutation_p.A264D	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	274						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CTTGTAATAAGCATCAGTTGG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(10;65 485 10258 29980 30707)							NA				0													197	181	186			NA	NA	17		NA											NA				42953350		2203	4300	6503	SO:0001583	missense			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883	9343	9343			30858	protein-coding gene	gene with protein product	U5 snRNP specific protein, 116 kD	603892			NA	9233818	Standard	NM_004247	NM_004247	NA	Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.821C>A	17.37:g.42953350G>T	ENSP00000392094:p.Ala274Asp	NA	D3DX58|Q9BUR0	37	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534336	0.64972	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.72051	-0.62;-0.62	4.96	4.96	0.65561	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.90137	0.6918	H	0.97540	4.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93564	0.6898	10	0.87932	D	0	-16.834	18.401	0.90516	0.0:0.0:1.0:0.0	.	264;274	B4DMC0;Q15029	.;U5S1_HUMAN	D	274;264;239	ENSP00000392094:A274D;ENSP00000385873:A239D	ENSP00000262414:A264D	A	-	2	0	EFTUD2	40308876	1.000000	0.71417	0.489000	0.27452	0.098000	0.18820	9.591000	0.98241	2.589000	0.87451	0.591000	0.81541	GCT	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448672.1		-	ENST00000426333.2	Missense_Mutation	SNP	17 : 42953350 - 42953350 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1231	215
KIAA0895	23366	broad.mit.edu	37	7	36370598	36370598	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36370598A>C	ENST00000436884.1	-	6	1521	c.1088T>G	c.(1087-1089)cTc>cGc	p.L363R	KIAA0895_ENST00000317020.6_Missense_Mutation_p.L415R|KIAA0895_ENST00000453212.1_Missense_Mutation_p.L221R|KIAA0895_ENST00000297063.6_Missense_Mutation_p.L466R|KIAA0895_ENST00000440378.1_Missense_Mutation_p.L463R|KIAA0895_ENST00000338533.5_Missense_Mutation_p.L453R	NM_001199708.1	NP_001186637.1	Q8NCT3	K0895_HUMAN	KIAA0895	466										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CACCTTCCCGAGAGCAGTCAG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	116	118			NA	NA	7		NA											NA				36370598		1938	4137	6075	SO:0001583	missense			BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542	23366	23366			22206	protein-coding gene	gene with protein product					NA		Standard	NM_015314	NM_015314	NA	Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000436884.1:c.1088T>G	7.37:g.36370598A>C	ENSP00000389985:p.Leu363Arg	NA	B9EGB9|O94969|Q0VGC1|Q7Z4L2	37	CCDS56482.1	.	.	.	.	.	.	.	.	.	.	A	17.35	3.368208	0.61513	.	.	ENSG00000164542	ENST00000297063;ENST00000338533;ENST00000317020;ENST00000440378;ENST00000436884;ENST00000453212	.	.	.	5.35	5.35	0.76521	.	0.067296	0.64402	D	0.000009	T	0.77857	0.4193	M	0.69823	2.125	0.80722	D	1	P;D;D;D;D	0.76494	0.738;0.997;0.999;0.999;0.999	B;D;D;D;D	0.75020	0.289;0.966;0.985;0.956;0.956	T	0.80677	-0.1276	9	0.87932	D	0	3.9199	15.4939	0.75634	1.0:0.0:0.0:0.0	.	463;363;466;453;415	B7ZLT4;B4DF35;Q8NCT3;Q8NCT3-2;Q8NCT3-3	.;.;K0895_HUMAN;.;.	R	466;453;415;463;363;221	.	ENSP00000297063:L466R	L	-	2	0	KIAA0895	36337123	1.000000	0.71417	1.000000	0.80357	0.195000	0.23768	8.438000	0.90305	2.243000	0.73865	0.482000	0.46254	CTC	KIAA0895-006	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337722.1		-	ENST00000436884.1	Missense_Mutation	SNP	7 : 36370598 - 36370598 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	447	84
CRISPLD1	83690	broad.mit.edu	37	8	75898234	75898234	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:75898234C>T	ENST00000262207.4	+	2	480	c.12C>T	c.(10-12)acC>acT	p.T4T	CRISPLD1_ENST00000519798.1_3'UTR	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	4						extracellular region				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			TGAAGTGTACCGCGCGGGAGT	0.463		NA											C	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	2e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	7e-04	SNP								NA				0													146	158	154			NA	NA	8		NA											NA				75898234		2203	4300	6503	SO:0001819	synonymous_variant			AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005	83690	83690			18206	protein-coding gene	gene with protein product			LCCL domain containing cysteine-rich secretory protein 1	LCRISP1	NA		Standard	NM_031461	NM_031461	NA	Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.12C>T	8.37:g.75898234C>T		NA	B2RA60	37	CCDS6219.1																																																																																			CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379117.1		+	ENST00000262207.4	Silent	SNP	8 : 75898234 - 75898234 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1200	208
SLC5A2	6524	broad.mit.edu	37	16	31499495	31499495	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31499495G>T	ENST00000330498.3	+	8	1040		c.e8+1		AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	NA					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						CTGTACCCAGGTAACATCCCT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	110	111			NA	NA	16		NA											NA				31499495		2197	4300	6497	SO:0001630	splice_region_variant				CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675	6524	6524		Solute carriers	11037	protein-coding gene	gene with protein product		182381		SGLT2	NA	8244402	Standard		NM_003041	NA	Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1021+1G>T	16.37:g.31499495G>T		NA		37	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	g	11.58	1.681357	0.29872	.	.	ENSG00000140675	ENST00000330498;ENST00000419665	.	.	.	4.13	4.13	0.48395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9502	0.64111	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC5A2	31406996	1.000000	0.71417	0.940000	0.37924	0.083000	0.17756	9.409000	0.97331	2.136000	0.66102	0.457000	0.33378	.	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255627.2	Intron	+	ENST00000330498.3	Splice_Site	SNP	16 : 31499495 - 31499495 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	863	181
WDR7	23335	broad.mit.edu	37	18	54423953	54423953	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:54423953C>T	ENST00000254442.3	+	15	2340	c.2129C>T	c.(2128-2130)cCg>cTg	p.P710L	WDR7_ENST00000357574.3_Missense_Mutation_p.P710L|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	710										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GCCTCTAGGCCGAATACTGCT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	79	78			NA	NA	18		NA											NA				54423953		2203	4300	6503	SO:0001583	missense			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157	23335	23335		WD repeat domain containing	13490	protein-coding gene	gene with protein product		613473			NA	10828621	Standard		XM_005266674	NA	Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.2129C>T	18.37:g.54423953C>T	ENSP00000254442:p.Pro710Leu	NA	A7E2C8|Q86UX5|Q86VP2|Q96PS7	37	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	C	9.215	1.031908	0.19590	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.66638	-0.22;-0.2	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.65688	0.2715	N	0.03608	-0.345	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.85130	0.861;0.997	T	0.69815	-0.5043	10	0.28530	T	0.3	.	19.9958	0.97383	0.0:1.0:0.0:0.0	.	710;710	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	L	710	ENSP00000254442:P710L;ENSP00000350187:P710L	ENSP00000254442:P710L	P	+	2	0	WDR7	52574951	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.640000	0.83355	2.826000	0.97356	0.655000	0.94253	CCG	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256062.1		+	ENST00000254442.3	Missense_Mutation	SNP	18 : 54423953 - 54423953 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	508	18
PKD2	5311	broad.mit.edu	37	4	88959637	88959637	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88959637C>T	ENST00000237596.2	+	4	1144	c.1078C>T	c.(1078-1080)Ccc>Tcc	p.P360S		NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	360						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TCCCTTTGGGCCCCGAAATGG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	91	90			NA	NA	4		NA											NA				88959637		2203	4300	6503	SO:0001583	missense			U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762	5311	5311		Voltage-gated ion channels / Transient receptor potential cation channels, EF-hand domain containing	9009	protein-coding gene	gene with protein product	transient receptor potential cation channel, subfamily P, member 2	173910			NA	8298643	Standard	NM_000297	NM_000297	NA	Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000237596.2:c.1078C>T	4.37:g.88959637C>T	ENSP00000237596:p.Pro360Ser	NA	O60441|Q15764|Q2M1Q3|Q2M1Q5	37	CCDS3627.1	.	.	.	.	.	.	.	.	.	.	C	7.583	0.669219	0.14776	.	.	ENSG00000118762	ENST00000237596	T	0.69435	-0.4	5.75	5.75	0.90469	Polycystin cation channel, PKD1/PKD2 (1);	0.163462	0.56097	D	0.000032	T	0.65439	0.2691	L	0.38838	1.175	0.80722	D	1	B	0.25772	0.134	B	0.36885	0.235	T	0.58880	-0.7558	10	0.30854	T	0.27	-8.2264	19.9598	0.97242	0.0:1.0:0.0:0.0	.	360	Q13563	PKD2_HUMAN	S	360	ENSP00000237596:P360S	ENSP00000237596:P360S	P	+	1	0	PKD2	89178661	0.929000	0.31497	0.277000	0.24703	0.970000	0.65996	5.836000	0.69375	2.716000	0.92895	0.655000	0.94253	CCC	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253042.4		+	ENST00000237596.2	Missense_Mutation	SNP	4 : 88959637 - 88959637 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	484	86
TNC	3371	broad.mit.edu	37	9	117849189	117849189	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117849189A>C	ENST00000341037.4	-	2	949	c.821T>G	c.(820-822)tTt>tGt	p.F274C	TNC_ENST00000535648.1_Missense_Mutation_p.F274C|TNC_ENST00000340094.3_Missense_Mutation_p.F274C|TNC_ENST00000346706.3_Missense_Mutation_p.F274C|TNC_ENST00000537320.1_Missense_Mutation_p.F274C|TNC_ENST00000423613.2_Missense_Mutation_p.F274C|TNC_ENST00000345230.3_Missense_Mutation_p.F274C|TNC_ENST00000350763.4_Missense_Mutation_p.F274C|TNC_ENST00000542877.1_Missense_Mutation_p.F274C			P24821	TENA_HUMAN	tenascin C	274	EGF-like 4.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ATCGCCTGCAAAGCCATCGTG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	127	143			NA	NA	9		NA											NA				117849189		2203	4300	6503	SO:0001583	missense				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982	3371	3371		Fibrinogen C domain containing, Fibronectin type III domain containing	5318	protein-coding gene	gene with protein product	hexabrachion (tenascin)	187380	hexabrachion (tenascin C, cytotactin), deafness, autosomal dominant 56	HXB, DFNA56	NA	1704365, 1707164, 23936043	Standard	NM_002160	NM_002160	NA	Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000341037.4:c.821T>G	9.37:g.117849189A>C	ENSP00000339553:p.Phe274Cys	NA	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	37		.	.	.	.	.	.	.	.	.	.	A	11.14	1.549785	0.27652	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49;2.49;2.49;2.49;2.49	5.13	3.99	0.46301	EGF, extracellular (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);	0.150285	0.64402	D	0.000009	T	0.37945	0.1022	M	0.83012	2.62	0.48040	D	0.999571	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.24799	-1.0150	10	0.87932	D	0	.	10.3736	0.44068	0.9228:0.0:0.0772:0.0	.	274;274	E9PC84;P24821	.;TENA_HUMAN	C	274	ENSP00000344400:F274C;ENSP00000438152:F274C;ENSP00000344555:F274C;ENSP00000345861:F274C;ENSP00000265131:F274C;ENSP00000339553:F274C;ENSP00000411406:F274C;ENSP00000443478:F274C;ENSP00000442242:F274C	ENSP00000344400:F274C	F	-	2	0	TNC	116889010	0.991000	0.36638	0.873000	0.34254	0.049000	0.14656	3.069000	0.50026	1.075000	0.40932	0.460000	0.39030	TTT	TNC-011	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000397659.2		-	ENST00000341037.4	Missense_Mutation	SNP	9 : 117849189 - 117849189 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	546	87
IPO4	79711	broad.mit.edu	37	14	24652349	24652349	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24652349C>T	ENST00000354464.6	-	23	2430	c.2254G>A	c.(2254-2256)Gtg>Atg	p.V752M	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	752					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TAGGATGGCACGACTCGGGCC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	MET/VAL	0,4208		0,0,2104	43	50	47		2254	-1.4	0.9	14		47	2,8470		0,2,4234	no	missense	IPO4	NM_024658.3	21	0,2,6338	TT,TC,CC	NA	0.0236,0.0,0.0158	benign	752/1082	24652349	2,12678	2104	4236	6340	SO:0001583	missense			AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497	79711	79711		Importins	19426	protein-coding gene	gene with protein product					NA	11823430	Standard	NM_024658	NR_051979	NA	Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.2254G>A	14.37:g.24652349C>T	ENSP00000346453:p.Val752Met	NA	B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	37	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.260088	0.23051	0.0	2.36E-4	ENSG00000196497	ENST00000354464;ENST00000399536	T	0.67171	-0.25	5.89	-1.42	0.08913	Armadillo-like helical (1);Armadillo-type fold (2);	0.788870	0.11743	N	0.533853	T	0.37598	0.1009	N	0.08118	0	0.30553	N	0.765211	B;B	0.19445	0.011;0.036	B;B	0.15870	0.006;0.014	T	0.25676	-1.0125	10	0.23891	T	0.37	-2.0618	4.6873	0.12764	0.0:0.2166:0.314:0.4694	.	752;752	Q8TEX9;Q8TEX9-2	IPO4_HUMAN;.	M	752;428	ENSP00000346453:V752M	ENSP00000346453:V752M	V	-	1	0	IPO4	23722189	0.007000	0.16637	0.862000	0.33874	0.765000	0.43378	-1.611000	0.02062	-0.090000	0.12462	0.655000	0.94253	GTG	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071931.4		-	ENST00000354464.6	Missense_Mutation	SNP	14 : 24652349 - 24652349 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	493	75
GRAMD1A	57655	broad.mit.edu	37	19	35504583	35504583	+	Silent	SNP	C	C	T	rs149214732	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35504583C>T	ENST00000599564.1	+	10	1190	c.1119C>T	c.(1117-1119)gaC>gaT	p.D373D	GRAMD1A_ENST00000504615.2_Silent_p.D52D|GRAMD1A_ENST00000411896.2_Silent_p.D279D|GRAMD1A_ENST00000317991.5_Silent_p.D286D			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	286						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CCAGCAGCGACGCAGACCATG	0.642		NA											C	10	0.0046	0.02	NA	2184	0.0017	0.9995	,	,	NA	3e-04	NA	NA	NA	0.0048	0.9505	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0								C	,	47,4059		0,47,2006	31	35	34		837,858	-1.5	1	19	dbSNP_134	34	0,8388		0,0,4194	no	coding-synonymous,coding-synonymous	GRAMD1A	NM_001136199.1,NM_020895.3	,	0,47,6200	TT,TC,CC	NA	0.0,1.1447,0.3762	,	279/714,286/725	35504583	47,12447	2053	4194	6247	SO:0001819	synonymous_variant			AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351	57655	57655			29305	protein-coding gene	gene with protein product			KIAA1533	KIAA1533	NA	10819331	Standard	NM_020895	NM_020895	NA	Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000599564.1:c.1119C>T	19.37:g.35504583C>T		NA	A6NKY7|Q8NC77|Q9P1Z5	37																																																																																				GRAMD1A-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000461555.1		+	ENST00000599564.1	Silent	SNP	19 : 35504583 - 35504583 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	369	62
MLLT1	4298	broad.mit.edu	37	19	6270647	6270647	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6270647G>A	ENST00000252674.7	-	2	299	c.136C>T	c.(136-138)Cac>Tac	p.H46Y		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	46	YEATS.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						TCCACGAAGTGCTGGATGTCA	0.637		NA	T	MLL	AL						OREG0025198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		19	19p13.3	4298	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)		L	0													114	90	98			NA	NA	19		NA											NA				6270647		2203	4300	6503	SO:0001583	missense				CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382	4298	4298			7134	protein-coding gene	gene with protein product		159556	myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1		NA		Standard	NM_005934	XM_005259561	NA	Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.136C>T	19.37:g.6270647G>A	ENSP00000252674:p.His46Tyr	632	Q14768	37	CCDS12160.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889490	0.91889	.	.	ENSG00000130382	ENST00000252674	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.47154	0.1430	N	0.05510	-0.035	0.80722	D	1	B	0.22541	0.071	B	0.37304	0.246	T	0.49835	-0.8897	9	0.49607	T	0.09	-34.6303	16.6911	0.85322	0.0:0.0:1.0:0.0	.	46	Q03111	ENL_HUMAN	Y	46	.	ENSP00000252674:H46Y	H	-	1	0	MLLT1	6221647	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.751000	0.98889	2.537000	0.85549	0.561000	0.74099	CAC	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452909.1		-	ENST00000252674.7	Missense_Mutation	SNP	19 : 6270647 - 6270647 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	48
RBM47	54502	broad.mit.edu	37	4	40440380	40440380	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40440380G>A	ENST00000381793.2	-	3	927	c.531C>T	c.(529-531)ggC>ggT	p.G177G	RBM47_ENST00000514014.1_Silent_p.G139G|RBM47_ENST00000295971.7_Silent_p.G177G|RBM47_ENST00000381795.6_Silent_p.G177G|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000319592.4_Silent_p.G177G			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	177	RRM 2.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CGTCCAGCACGCCCTCGGTGA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	63	66			NA	NA	4		NA											NA				40440380		2203	4299	6502	SO:0001819	synonymous_variant			AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694	54502	54502		RNA binding motif (RRM) containing	30358	protein-coding gene	gene with protein product					NA		Standard	NM_019027	NM_019027	NA	Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.531C>T	4.37:g.40440380G>A		NA	A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	37	CCDS43223.1																																																																																			RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250456.2		-	ENST00000381793.2	Silent	SNP	4 : 40440380 - 40440380 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	788	40
NXPH1	30010	broad.mit.edu	37	7	8791187	8791187	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:8791187G>A	ENST00000405863.1	+	3	1515	c.604G>A	c.(604-606)Gac>Aac	p.D202N	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_Missense_Mutation_p.D85N	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	202	V (Cys-rich).					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		TGAAAAGGTTGACAAGGCTAC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	54	55			NA	NA	7		NA											NA				8791187		1879	4109	5988	SO:0001583	missense			AB047362	CCDS47540.1	7p22	2003-03-20			ENSG00000122584	ENSG00000122584	30010	30010			20693	protein-coding gene	gene with protein product		604639			NA	9570794	Standard	NM_152745	NM_152745	NA	Approved		uc003srv.3	P58417	OTTHUMG00000151941	ENST00000405863.1:c.604G>A	7.37:g.8791187G>A	ENSP00000384551:p.Asp202Asn	NA	Q8NB31	37	CCDS47540.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.821158	0.71028	.	.	ENSG00000122584	ENST00000405863;ENST00000417186	.	.	.	6.06	6.06	0.98353	.	0.043023	0.85682	D	0.000000	T	0.64605	0.2613	L	0.46157	1.445	0.80722	D	1	B	0.17667	0.023	B	0.27262	0.078	T	0.57046	-0.7878	9	0.18276	T	0.48	-15.4457	20.6208	0.99490	0.0:0.0:1.0:0.0	.	202	P58417	NXPH1_HUMAN	N	202;85	.	ENSP00000384551:D202N	D	+	1	0	NXPH1	8757712	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.835000	0.99442	2.882000	0.98803	0.655000	0.94253	GAC	NXPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324591.1		+	ENST00000405863.1	Missense_Mutation	SNP	7 : 8791187 - 8791187 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	146	35
MUC16	94025	broad.mit.edu	37	19	9085462	9085462	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9085462G>A	ENST00000397910.4	-	1	6556	c.6353C>T	c.(6352-6354)gCg>gTg	p.A2118V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2118	Ser-rich.|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						CAAAGTACTCGCGGCTGTATT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	126	127			NA	NA	19		NA											NA				9085462		1925	4126	6051	SO:0001583	missense			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.6353C>T	19.37:g.9085462G>A	ENSP00000381008:p.Ala2118Val	NA	Q6ZQW5|Q96RK2	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	0.030	-1.343569	0.01277	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	0.235	-0.47	0.12131	.	.	.	.	.	T	0.01489	0.0048	N	0.08118	0	.	.	.	B	0.06786	0.001	B	0.01281	0.0	T	0.49303	-0.8954	7	0.87932	D	0	.	.	.	.	.	2118	B5ME49	.	V	2118	ENSP00000381008:A2118V	ENSP00000381008:A2118V	A	-	2	0	MUC16	8946462	0.005000	0.15991	0.008000	0.14137	0.008000	0.06430	-0.606000	0.05654	-1.808000	0.01234	-1.786000	0.00637	GCG	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Missense_Mutation	SNP	19 : 9085462 - 9085462 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	888	147
PMS2	5395	broad.mit.edu	37	7	6017315	6017315	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6017315G>A	ENST00000406569.3	-	12	1708	c.1709C>T	c.(1708-1710)tCg>tTg	p.S570L	PMS2_ENST00000441476.2_Silent_p.V677V|PMS2_ENST00000382321.4_Silent_p.V382V|PMS2_ENST00000265849.7_Silent_p.V783V			P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	0					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TCAGTTCATCGACGTCCTGGG	0.498		NA	Mis, N, F			colorectal, endometrial, ovarian, medulloblastoma, glioma		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Hereditary non-polyposis colorectal cancer, Turcot syndrome	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	0													94	75	81			NA	NA	7		NA											NA				6017315		2195	4284	6479	SO:0001583	missense	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512	5395	5395			9122	protein-coding gene	gene with protein product		600259	postmeiotic segregation increased (S. cerevisiae) 2	PMSL2	NA	8072530	Standard	NM_000535	NM_000535	NA	Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000406569.3:c.1709C>T	7.37:g.6017315G>A	ENSP00000384308:p.Ser570Leu	NA	B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	37		.	.	.	.	.	.	.	.	.	.	G	11.33	1.608084	0.28623	.	.	ENSG00000122512	ENST00000406569	D	0.85861	-2.04	5.75	-1.52	0.08637	.	.	.	.	.	T	0.77844	0.4191	.	.	.	0.80722	D	1	B	0.26708	0.157	B	0.19391	0.025	T	0.63686	-0.6581	8	0.30078	T	0.28	-7.0862	16.6672	0.85256	0.0:0.0:0.5913:0.4087	.	570	P54278-3	.	L	570	ENSP00000384308:S570L	ENSP00000384308:S570L	S	-	2	0	PMS2	5983841	0.905000	0.30787	0.984000	0.44739	0.615000	0.37417	-0.059000	0.11731	-0.473000	0.06871	-0.442000	0.05670	TCG	PMS2-005	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000325470.1		-	ENST00000406569.3	Missense_Mutation	SNP	7 : 6017315 - 6017315 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	782	90
OR8H2	390151	broad.mit.edu	37	11	55873329	55873329	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55873329G>T	ENST00000313503.1	+	1	811	c.811G>T	c.(811-813)Gat>Tat	p.D271Y		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CTTGGGAAGAGATCAAGTGGC	0.363		NA								HNSCC(53;0.14)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	87	86			NA	NA	11		NA											NA				55873329		2201	4295	6496	SO:0001583	missense			AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767	390151	390151		GPCR / Class A : Olfactory receptors	15308	protein-coding gene	gene with protein product					NA		Standard	NM_001005200	NM_001005200	NA	Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.811G>T	11.37:g.55873329G>T	ENSP00000323982:p.Asp271Tyr	NA	Q6IFC1	37	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	g	7.949	0.744428	0.15710	.	.	ENSG00000181767	ENST00000313503	T	0.00256	8.42	3.58	2.64	0.31445	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000040	T	0.00384	0.0012	M	0.89715	3.055	0.09310	N	1	P	0.42409	0.779	P	0.48738	0.588	T	0.21930	-1.0231	10	0.87932	D	0	.	5.563	0.17154	0.174:0.0:0.6649:0.1611	.	271	Q8N162	OR8H2_HUMAN	Y	271	ENSP00000323982:D271Y	ENSP00000323982:D271Y	D	+	1	0	OR8H2	55629905	0.000000	0.05858	0.382000	0.26119	0.058000	0.15608	-0.479000	0.06567	0.788000	0.33755	0.440000	0.28878	GAT	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391540.1		+	ENST00000313503.1	Missense_Mutation	SNP	11 : 55873329 - 55873329 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	552	107
HMCN1	83872	broad.mit.edu	37	1	186113795	186113795	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186113795T>G	ENST00000271588.4	+	91	14455	c.14226T>G	c.(14224-14226)agT>agG	p.S4742R	HMCN1_ENST00000367492.2_Missense_Mutation_p.S4742R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4742	TSP type-1 4.				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						GCGAAGGGAGTGATGTCCAGA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	113	115			NA	NA	1		NA											NA				186113795		2203	4300	6503	SO:0001583	missense			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.14226T>G	1.37:g.186113795T>G	ENSP00000271588:p.Ser4742Arg	NA	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.177581	0.38413	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.53640	0.61;0.61	5.82	2.16	0.27623	.	0.384313	0.33161	N	0.005202	T	0.28962	0.0719	L	0.28054	0.825	0.31056	N	0.714655	B	0.09022	0.002	B	0.12156	0.007	T	0.14062	-1.0486	10	0.48119	T	0.1	.	3.8691	0.09029	0.2546:0.1803:0.0:0.5651	.	4742	Q96RW7	HMCN1_HUMAN	R	4742	ENSP00000271588:S4742R;ENSP00000356462:S4742R	ENSP00000271588:S4742R	S	+	3	2	HMCN1	184380418	0.025000	0.19082	0.921000	0.36526	0.885000	0.51271	0.026000	0.13599	0.419000	0.25927	-0.344000	0.07964	AGT	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131848.1		+	ENST00000271588.4	Missense_Mutation	SNP	1 : 186113795 - 186113795 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	403	82
CCDC15	80071	broad.mit.edu	37	11	124845009	124845009	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124845009A>C	ENST00000529051.1	+	5	793	c.534A>C	c.(532-534)aaA>aaC	p.K178N	CCDC15_ENST00000344762.5_Missense_Mutation_p.K178N			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	178						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AAACTATGAAACAGGCACGTC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	49	50			NA	NA	11		NA											NA				124845009		1840	4097	5937	SO:0001583	missense			BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548	80071	80071			25798	protein-coding gene	gene with protein product					NA		Standard	NM_025004	NM_025004	NA	Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000529051.1:c.534A>C	11.37:g.124845009A>C	ENSP00000435403:p.Lys178Asn	NA	Q9H8U7	37		.	.	.	.	.	.	.	.	.	.	A	16.93	3.257472	0.59321	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.43294	0.96;0.95	5.49	-0.499	0.12015	.	0.146210	0.44097	D	0.000494	T	0.56337	0.1978	M	0.71581	2.175	0.23855	N	0.996653	D	0.76494	0.999	D	0.79784	0.993	T	0.48811	-0.9002	10	0.72032	D	0.01	-11.9158	8.8787	0.35360	0.5446:0.0:0.4554:0.0	.	178	Q0P6D6	CCD15_HUMAN	N	178	ENSP00000435403:K178N;ENSP00000341684:K178N	ENSP00000341684:K178N	K	+	3	2	CCDC15	124350219	0.993000	0.37304	0.993000	0.49108	0.690000	0.40134	0.110000	0.15437	-0.008000	0.14320	0.528000	0.53228	AAA	CCDC15-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000387130.1		+	ENST00000529051.1	Missense_Mutation	SNP	11 : 124845009 - 124845009 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	104	15
GPR125	166647	broad.mit.edu	37	4	22414965	22414965	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22414965C>T	ENST00000334304.5	-	14	2341	c.2072G>A	c.(2071-2073)cGt>cAt	p.R691H	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	691					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TGCAATTCGACGCAGTGTCAC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	109	105	106		2072	5.9	1	4		106	3,8597	3.0+/-9.4	0,3,4297	no	missense	GPR125	NM_145290.2	29	0,6,6497	TT,TC,CC	NA	0.0349,0.0681,0.0461	probably-damaging	691/1322	22414965	6,13000	2203	4300	6503	SO:0001583	missense			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990	166647	166647		-, GPCR / Class B : Orphans, Immunoglobulin superfamily / I-set domain containing	13839	protein-coding gene	gene with protein product		612303			NA	12565841	Standard		NM_145290	NA	Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2072G>A	4.37:g.22414965C>T	ENSP00000334952:p.Arg691His	NA	Q6UXK9|Q86SQ5|Q8TC55	37	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	35	5.434147	0.96150	6.81E-4	3.49E-4	ENSG00000152990	ENST00000334304	T	0.58060	0.36	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.74801	0.3764	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.75733	-0.3214	10	0.72032	D	0.01	-35.5869	20.1991	0.98252	0.0:1.0:0.0:0.0	.	548;691	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	H	691	ENSP00000334952:R691H	ENSP00000334952:R691H	R	-	2	0	GPR125	22024063	1.000000	0.71417	0.983000	0.44433	0.679000	0.39708	5.592000	0.67543	2.775000	0.95449	0.650000	0.86243	CGT	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362960.3		-	ENST00000334304.5	Missense_Mutation	SNP	4 : 22414965 - 22414965 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	587	95
CREB3L1	90993	broad.mit.edu	37	11	46332593	46332593	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46332593G>A	ENST00000529193.1	+	5	1057	c.606G>A	c.(604-606)gtG>gtA	p.V202V	CREB3L1_ENST00000288400.3_Silent_p.V202V			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	202					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		AGGACCTGGTGCAGATGCCTC	0.637		NA	T	FUS	myxofibrosarcoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(3;159 194 19597 26278 47995)		Dom	yes		11	11p11.2	90993	cAMP responsive element binding protein 3-like 1		M	0													64	72	69			NA	NA	11		NA											NA				46332593		2158	4251	6409	SO:0001819	synonymous_variant				CCDS53620.1	11q11	2013-01-10				ENSG00000157613	90993	90993		basic leucine zipper proteins	18856	protein-coding gene	gene with protein product	BBF-2 homolog (drosophila)				NA		Standard	NM_052854	NM_052854	NA	Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.606G>A	11.37:g.46332593G>A		NA	Q8N2D5|Q96CP0	37	CCDS53620.1																																																																																			CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389702.1		+	ENST00000529193.1	Silent	SNP	11 : 46332593 - 46332593 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	728	138
MSRB3	253827	broad.mit.edu	37	12	65856975	65856975	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:65856975G>A	ENST00000308259.5	+	7	705	c.431G>A	c.(430-432)cGt>cAt	p.R144H	MSRB3_ENST00000535664.1_Missense_Mutation_p.R144H|MSRB3_ENST00000355192.3_Missense_Mutation_p.R151H	NM_001031679.2|NM_001193460.1	NP_001026849.1|NP_001180389.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	151					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		GATGGGCCTCGTCCAACTGGG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	149	154			NA	NA	12		NA											NA				65856975		2203	4300	6503	SO:0001583	missense			BX640871	CCDS8973.1, CCDS31853.1	12q14.3	2011-11-29			ENSG00000174099	ENSG00000174099	253827	253827			27375	protein-coding gene	gene with protein product		613719	deafness, autosomal recessive 74	DFNB74	NA	21185009	Standard	NM_198080	NM_198080	NA	Approved	FLJ36866, DKFZp686C1178	uc021qzy.1	Q8IXL7	OTTHUMG00000168866	ENST00000308259.5:c.431G>A	12.37:g.65856975G>A	ENSP00000312274:p.Arg144His	NA	B4DR19|B7ZAQ0|Q6UXS2	37	CCDS31853.1	.	.	.	.	.	.	.	.	.	.	G	34	5.370903	0.95923	.	.	ENSG00000174099	ENST00000355192;ENST00000308259;ENST00000535664;ENST00000535239	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.76	5.76	0.90799	Mss4-like (1);Methionine sulphoxide reductase B (4);	0.222920	0.44285	D	0.000472	D	0.86159	0.5866	M	0.62088	1.915	0.54753	D	0.999985	D;D	0.64830	0.994;0.975	D;P	0.63283	0.913;0.766	D	0.84050	0.0369	9	.	.	.	-6.5414	20.3325	0.98724	0.0:0.0:1.0:0.0	.	151;144	Q8IXL7;Q8IXL7-2	MSRB3_HUMAN;.	H	151;144;144;144	ENSP00000347324:R151H;ENSP00000312274:R144H;ENSP00000441650:R144H;ENSP00000445843:R144H	.	R	+	2	0	MSRB3	64143242	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.573000	0.67417	2.890000	0.99128	0.655000	0.94253	CGT	MSRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401422.1		+	ENST00000308259.5	Missense_Mutation	SNP	12 : 65856975 - 65856975 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	846	143
FSTL3	10272	broad.mit.edu	37	19	681539	681539	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:681539C>T	ENST00000166139.4	+	4	744	c.712C>T	c.(712-714)Cgc>Tgc	p.R238C	FSTL3_ENST00000592947.1_3'UTR	NM_005860.2	NP_005851.1	O95633	FSTL3_HUMAN	follistatin-like 3 (secreted glycoprotein)	238	Kazal-like 2.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	extracellular space|nucleus	activin binding|fibronectin binding				NA		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCGGCGTGCGCCACGCGGG	0.697		NA	T	CCND1	B-CLL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		19	19p13	10272	follistatin-like 3 (secreted glycoprotein)		L	0													26	23	24			NA	NA	19		NA											NA				681539		2200	4296	6496	SO:0001583	missense			U76702	CCDS12040.1	19p13	2008-07-16				ENSG00000070404	10272	10272			3973	protein-coding gene	gene with protein product	follistatin-related protein	605343			NA	9671416, 15527507	Standard	NM_005860	NM_005860	NA	Approved	FLRG, FSRP	uc002lpk.1	O95633		ENST00000166139.4:c.712C>T	19.37:g.681539C>T	ENSP00000166139:p.Arg238Cys	NA	A8K7E3	37	CCDS12040.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432881	0.62844	.	.	ENSG00000070404	ENST00000166139	T	0.04119	3.7	3.88	3.88	0.44766	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.188903	0.47093	D	0.000242	T	0.20861	0.0502	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.01378	-1.1370	10	0.62326	D	0.03	-31.728	14.5679	0.68191	0.0:1.0:0.0:0.0	.	238	O95633	FSTL3_HUMAN	C	238	ENSP00000166139:R238C	ENSP00000166139:R238C	R	+	1	0	FSTL3	632539	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	5.358000	0.66064	2.011000	0.59026	0.462000	0.41574	CGC	FSTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452479.1		+	ENST00000166139.4	Missense_Mutation	SNP	19 : 681539 - 681539 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	134	23
COL5A1	1289	broad.mit.edu	37	9	137623411	137623411	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137623411C>A	ENST00000371817.3	+	8	1648	c.1234C>A	c.(1234-1236)Ctt>Att	p.L412I		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	412	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GATCCGGAACCTTGACGAGAA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	111	121			NA	NA	9		NA											NA				137623411		2203	4300	6503	SO:0001583	missense			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635	1289	1289		Collagens	2209	protein-coding gene	gene with protein product	alpha 1 type V collagen	120215			NA	1572660	Standard	NM_000093	NM_001278074	NA	Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1234C>A	9.37:g.137623411C>A	ENSP00000360882:p.Leu412Ile	NA	Q15094|Q5SUX4	37	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	4.938	0.174191	0.09391	.	.	ENSG00000130635	ENST00000371817	D	0.89552	-2.53	4.16	2.19	0.27852	.	0.936132	0.08761	U	0.897691	T	0.79082	0.4386	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.61520	-0.7046	10	0.22109	T	0.4	.	5.1304	0.14907	0.0:0.4548:0.4015:0.1437	.	412	P20908	CO5A1_HUMAN	I	412	ENSP00000360882:L412I	ENSP00000360882:L412I	L	+	1	0	COL5A1	136763232	0.239000	0.23836	0.097000	0.21041	0.137000	0.21094	0.610000	0.24253	0.188000	0.20168	0.313000	0.20887	CTT	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054954.2		+	ENST00000371817.3	Missense_Mutation	SNP	9 : 137623411 - 137623411 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	425	13
GRM3	2913	broad.mit.edu	37	7	86468560	86468560	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86468560C>T	ENST00000361669.2	+	4	2829	c.1730C>T	c.(1729-1731)gCc>gTc	p.A577V	GRM3_ENST00000546348.1_Missense_Mutation_p.A169V|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.A449V|GRM3_ENST00000394720.2_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	577					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GACGCCTGGGCCATTGGCCCA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(52;969 1098 3139 52280)							NA				0													102	98	100			NA	NA	7		NA											NA				86468560		2203	4300	6503	SO:0001583	missense				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822	NA	2913		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4595	protein-coding gene	gene with protein product		601115			NA	8824806	Standard		NM_000840	NA	Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1730C>T	7.37:g.86468560C>T	ENSP00000355316:p.Ala577Val	NA	Q75MV4|Q75N17|Q86YG6|Q8TBH9	37	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736591	0.89482	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.89123	-2.47;-2.41;-2.25	6.16	6.16	0.99307	GPCR, family 3, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95510	0.8541	M	0.89414	3.03	0.80722	D	1	D;D;D	0.69078	0.974;0.994;0.997	P;D;D	0.68943	0.677;0.961;0.96	D	0.95375	0.8468	10	0.87932	D	0	.	19.848	0.96722	0.0:1.0:0.0:0.0	.	169;449;577	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	V	577;169;449	ENSP00000355316:A577V;ENSP00000444064:A169V;ENSP00000441407:A449V	ENSP00000355316:A577V	A	+	2	0	GRM3	86306496	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GCC	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253362.2		+	ENST00000361669.2	Missense_Mutation	SNP	7 : 86468560 - 86468560 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	333	75
C9orf172	389813	broad.mit.edu	37	9	139740881	139740881	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139740881G>A	ENST00000436881.1	+	1	2015	c.2015G>A	c.(2014-2016)cGc>cAc	p.R672H		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	672										endometrium(2)|large_intestine(1)|lung(6)	9						CGCTGCCGGCGCACCGAGACC	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	25	23			NA	NA	9		NA											NA				139740881		2048	4145	6193	SO:0001583	missense				CCDS48059.1	9q34.3	2012-04-03			ENSG00000232434	ENSG00000232434	389813	389813			37284	protein-coding gene	gene with protein product					NA		Standard	NM_001080482	NM_001080482	NA	Approved		uc011meh.2	C9J069		ENST00000436881.1:c.2015G>A	9.37:g.139740881G>A	ENSP00000412388:p.Arg672His	NA		37	CCDS48059.1	.	.	.	.	.	.	.	.	.	.	.	12.26	1.883763	0.33255	.	.	ENSG00000232434	ENST00000436881	.	.	.	3.17	3.17	0.36434	.	.	.	.	.	T	0.52837	0.1759	M	0.66939	2.045	0.51012	D	0.9999	B	0.32939	0.391	B	0.23419	0.046	T	0.62469	-0.6848	8	0.72032	D	0.01	-10.9499	13.5	0.61449	0.0:0.0:1.0:0.0	.	672	C9J069	CI172_HUMAN	H	672	.	ENSP00000412388:R672H	R	+	2	0	C9orf172	138860702	1.000000	0.71417	0.988000	0.46212	0.614000	0.37383	4.587000	0.60991	1.600000	0.50102	0.164000	0.16699	CGC	C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding			+	ENST00000436881.1	Missense_Mutation	SNP	9 : 139740881 - 139740881 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	231	53
GJA8	2703	broad.mit.edu	37	1	147380546	147380546	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147380546T>C	ENST00000369235.1	+	1	464	c.464T>C	c.(463-465)aTc>aCc	p.I155T	GJA8_ENST00000240986.4_Missense_Mutation_p.I155T			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	155					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					ATCTGCCACATCATCTTCAAG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(76;1255 1795 8195 52096)							NA				0													113	113	113			NA	NA	1		NA											NA				147380546		2203	4300	6503	SO:0001583	missense			U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634	2703	2703		Ion channels / Gap junction proteins (connexins)	4281	protein-coding gene	gene with protein product	connexin 50	600897	gap junction protein, alpha 8, 50kD (connexin 50), gap junction protein, alpha 8, 50kDa (connexin 50)	CAE1, CZP1, CAE	NA	9497259, 7796604	Standard	NM_005267	NM_005267	NA	Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.464T>C	1.37:g.147380546T>C	ENSP00000358238:p.Ile155Thr	NA	A7L5M5|Q5VVN9|Q9NP25	37	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	t	19.21	3.783079	0.70222	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.98192	-4.78;-4.78	5.06	5.06	0.68205	.	0.053149	0.64402	D	0.000001	D	0.98563	0.9520	M	0.78456	2.415	0.58432	D	0.999999	D	0.76494	0.999	D	0.67900	0.954	D	0.99819	1.1046	10	0.87932	D	0	.	14.7852	0.69796	0.0:0.0:0.0:1.0	.	155	P48165	CXA8_HUMAN	T	155	ENSP00000240986:I155T;ENSP00000358238:I155T	ENSP00000240986:I155T	I	+	2	0	GJA8	145847170	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.964000	0.87933	1.885000	0.54596	0.402000	0.26972	ATC	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060647.1		+	ENST00000369235.1	Missense_Mutation	SNP	1 : 147380546 - 147380546 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	989	176
CSPG4	1464	broad.mit.edu	37	15	75980453	75980453	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75980453G>A	ENST00000308508.5	-	3	3045	c.2953C>T	c.(2953-2955)Cca>Tca	p.P985S		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	985	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCAACAAATGGGATATCATCT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	87	86			NA	NA	15		NA											NA				75980453		2197	4293	6490	SO:0001583	missense			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546	1464	1464		Proteoglycans / Cell surface : Other	2466	protein-coding gene	gene with protein product	melanoma-associated chondroitin sulfate proteoglycan	601172	chondroitin sulfate proteoglycan 4 (melanoma-associated)		NA	8790396, 16407841	Standard	NM_001897	NM_001897	NA	Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.2953C>T	15.37:g.75980453G>A	ENSP00000312506:p.Pro985Ser	NA	D3DW77|Q92675	37	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	10.93	1.488732	0.26686	.	.	ENSG00000173546	ENST00000308508	T	0.25579	1.79	4.89	4.89	0.63831	.	0.000000	0.64402	D	0.000003	T	0.33235	0.0856	L	0.60455	1.87	0.39408	D	0.966695	D	0.53151	0.958	P	0.47705	0.555	T	0.11616	-1.0580	10	0.21014	T	0.42	.	17.0533	0.86525	0.0:0.0:1.0:0.0	.	985	Q6UVK1	CSPG4_HUMAN	S	985	ENSP00000312506:P985S	ENSP00000312506:P985S	P	-	1	0	CSPG4	73767508	1.000000	0.71417	0.573000	0.28510	0.881000	0.50899	4.089000	0.57685	2.253000	0.74438	0.555000	0.69702	CCA	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286472.1		-	ENST00000308508.5	Missense_Mutation	SNP	15 : 75980453 - 75980453 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	639	31
GPR137B	7107	broad.mit.edu	37	1	236347193	236347193	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236347193C>A	ENST00000366592.3	+	5	1044	c.953C>A	c.(952-954)cCt>cAt	p.P318H	GPR137B_ENST00000477559.1_3'UTR	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	318						integral to plasma membrane|membrane fraction				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			GTTAGAAATCCTACAAAGGAC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	114	115			NA	NA	1		NA											NA				236347193		2203	4300	6503	SO:0001583	missense			AF027826	CCDS1609.1	1q42-q43	2012-08-10	2006-01-26	2006-01-26	ENSG00000077585	ENSG00000077585	7107	7107			11862	protein-coding gene	gene with protein product		604658	transmembrane 7 superfamily member 1 (upregulated in kidney)	TM7SF1	NA	9521871	Standard	NM_003272	NM_003272	NA	Approved		uc001hxq.3	O60478	OTTHUMG00000037994	ENST00000366592.3:c.953C>A	1.37:g.236347193C>A	ENSP00000355551:p.Pro318His	NA	Q53EK7|Q5TAE6|Q6FHI3	37	CCDS1609.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.03|19.03	3.748292|3.748292	0.69533|0.69533	.|.	.|.	ENSG00000077585|ENSG00000077585	ENST00000454895|ENST00000366592;ENST00000391852;ENST00000419162	.|T;T	.|0.54866	.|0.55;0.7	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.110179	.|0.64402	.|D	.|0.000006	T|T	0.72028|0.72028	0.3410|0.3410	M|M	0.78637|0.78637	2.42|2.42	0.80722|0.80722	D|D	1|1	.|D;D	.|0.67145	.|0.975;0.996	.|P;P	.|0.60345	.|0.81;0.873	T|T	0.75844|0.75844	-0.3174|-0.3174	5|10	.|0.87932	.|D	.|0	-3.3371|-3.3371	19.3356|19.3356	0.94316|0.94316	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|181;318	.|Q5TAF1;O60478	.|.;G137B_HUMAN	I|H	182|318;317;100	.|ENSP00000355551:P318H;ENSP00000401841:P100H	.|ENSP00000355551:P318H	L|P	+|+	1|2	2|0	GPR137B|GPR137B	234413816|234413816	0.999000|0.999000	0.42202|0.42202	0.016000|0.016000	0.15963|0.15963	0.723000|0.723000	0.41478|0.41478	7.345000|7.345000	0.79337|0.79337	2.578000|2.578000	0.87016|0.87016	0.650000|0.650000	0.86243|0.86243	CTA|CCT	GPR137B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092761.1		+	ENST00000366592.3	Missense_Mutation	SNP	1 : 236347193 - 236347193 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	26
RBBP8	5932	broad.mit.edu	37	18	20573396	20573396	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:20573396C>T	ENST00000399722.2	+	11	1957	c.1606C>T	c.(1606-1608)Cgt>Tgt	p.R536C	RBBP8_ENST00000327155.5_Missense_Mutation_p.R536C|RBBP8_ENST00000399725.2_Missense_Mutation_p.R536C|RBBP8_ENST00000360790.5_Missense_Mutation_p.R536C	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	536					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TTCCTCAAGCCGTAAGGCCTC	0.468		NA						Homologous recombination						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	41	41			NA	NA	18		NA											NA				20573396		2202	4299	6501	SO:0001583	missense			AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773	5932	5932			9891	protein-coding gene	gene with protein product	CTBP-interacting protein	604124	retinoblastoma-binding protein 8, Seckel syndrome 2	SCKL2	NA	9721205, 17965729, 21998596	Standard	NM_203291	NM_002894	NA	Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.1606C>T	18.37:g.20573396C>T	ENSP00000382628:p.Arg536Cys	NA	O75371	37	CCDS11875.1	.	.	.	.	.	.	.	.	.	.	C	9.149	1.015832	0.19355	.	.	ENSG00000101773	ENST00000327155;ENST00000399725;ENST00000399722;ENST00000399721;ENST00000360790	T;T;T;T;T	0.34667	1.38;1.35;1.38;1.37;1.38	5.97	2.82	0.32997	.	0.620350	0.16787	N	0.199531	T	0.33147	0.0853	L	0.55481	1.735	0.40353	D	0.979157	B;B;B	0.19817	0.018;0.014;0.039	B;B;B	0.10450	0.005;0.002;0.005	T	0.25502	-1.0130	10	0.87932	D	0	-0.5355	10.2979	0.43635	0.0:0.7571:0.0:0.2429	.	536;536;536	E7ETY1;A6NKN2;Q99708	.;.;COM1_HUMAN	C	536	ENSP00000323050:R536C;ENSP00000382630:R536C;ENSP00000382628:R536C;ENSP00000382627:R536C;ENSP00000354024:R536C	ENSP00000323050:R536C	R	+	1	0	RBBP8	18827394	0.002000	0.14202	0.674000	0.29902	0.466000	0.32739	0.826000	0.27407	0.864000	0.35578	0.655000	0.94253	CGT	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000446387.1		+	ENST00000399722.2	Missense_Mutation	SNP	18 : 20573396 - 20573396 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	62
OBSCN	84033	broad.mit.edu	37	1	228437821	228437821	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228437821C>A	ENST00000570156.2	+	15	4539	c.4465C>A	c.(4465-4467)Cga>Aga	p.R1489R	OBSCN_ENST00000284548.11_Silent_p.R1397R|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.R1397R	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	467	Ig-like 15.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTCGAAAGTTCGAATGGAGGC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	80	78			NA	NA	1		NA											NA				228437821		2094	4201	6295	SO:0001819	synonymous_variant			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358	84033	84033		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	15719	protein-coding gene	gene with protein product		608616			NA	11448995, 11814696	Standard	NM_052843	NM_001098623	NA	Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000570156.2:c.4465C>A	1.37:g.228437821C>A		NA	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	37	CCDS59204.1																																																																																			OBSCN-011	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421354.3		+	ENST00000570156.2	Silent	SNP	1 : 228437821 - 228437821 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	768	210
REG1A	5967	broad.mit.edu	37	2	79350005	79350005	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:79350005C>A	ENST00000233735.1	+	5	463	c.360C>A	c.(358-360)tcC>tcA	p.S120S		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	120	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CCCTGGTCTCCTACAAGTCCT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	117	118			NA	NA	2		NA											NA				79350005		2203	4300	6503	SO:0001819	synonymous_variant				CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386	5967	5967			9951	protein-coding gene	gene with protein product	pancreatic stone protein, pancreatic thread protein	167770	regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)	REG	NA	2332435, 8333731	Standard	NM_002909	NM_002909	NA	Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.360C>A	2.37:g.79350005C>A		NA	P11379	37	CCDS1964.1																																																																																			REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252289.1		+	ENST00000233735.1	Silent	SNP	2 : 79350005 - 79350005 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	880	133
PLXNB2	23654	broad.mit.edu	37	22	50728347	50728347	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50728347C>T	ENST00000449103.1	-	3	807	c.667G>A	c.(667-669)Gag>Aag	p.E223K	PLXNB2_ENST00000359337.4_Missense_Mutation_p.E223K			O15031	PLXB2_HUMAN	plexin B2	223	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGGCCGTCCTCGAAGGCCGCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	65	63			NA	NA	22		NA											NA				50728347		2120	4231	6351	SO:0001583	missense				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576	23654	23654		Plexins	9104	protein-coding gene	gene with protein product		604293			NA	10520995, 12183458	Standard	NM_012401	NM_012401	NA	Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.667G>A	22.37:g.50728347C>T	ENSP00000409171:p.Glu223Lys	NA	A6QRH0|Q7KZU3|Q9BSU7	37	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640349	0.47153	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000414275;ENST00000432455	T;T;T	0.04758	3.56;3.56;3.56	4.62	4.62	0.57501	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.56097	D	0.000026	T	0.04998	0.0134	L	0.37897	1.145	0.44149	D	0.996942	B	0.29162	0.235	B	0.25140	0.058	T	0.38394	-0.9663	10	0.08837	T	0.75	.	17.6365	0.88123	0.0:1.0:0.0:0.0	.	223	O15031	PLXB2_HUMAN	K	223	ENSP00000409171:E223K;ENSP00000352288:E223K;ENSP00000392620:E223K	ENSP00000352288:E223K	E	-	1	0	PLXNB2	49070474	0.950000	0.32346	0.991000	0.47740	0.926000	0.56050	2.585000	0.46111	2.391000	0.81399	0.462000	0.41574	GAG	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316874.3		-	ENST00000449103.1	Missense_Mutation	SNP	22 : 50728347 - 50728347 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	68
USP19	10869	broad.mit.edu	37	3	49154234	49154234	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49154234C>A	ENST00000453664.1	-	7	1340	c.1022G>T	c.(1021-1023)aGc>aTc	p.S341I	USP19_ENST00000398896.1_Missense_Mutation_p.S56I|USP19_ENST00000398888.2_Missense_Mutation_p.S250I|USP19_ENST00000417901.1_Missense_Mutation_p.S351I|USP19_ENST00000398892.3_Missense_Mutation_p.S288I|USP19_ENST00000398898.2_Missense_Mutation_p.S288I|USP19_ENST00000434032.2_Missense_Mutation_p.S351I	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	250	CS 2.				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGGGTTTCTGCTCCGGACCAT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	61	59			NA	NA	3		NA											NA				49154234		2033	4180	6213	SO:0001583	missense			AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046	10869	10869		Zinc fingers, MYND-type, Ubiquitin-specific peptidases	12617	protein-coding gene	gene with protein product		614471	ubiquitin specific protease 19		NA	12838346	Standard	NM_006677	NM_001199160	NA	Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000453664.1:c.1022G>T	3.37:g.49154234C>A	ENSP00000400090:p.Ser341Ile	NA	A6H8U2|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	37	CCDS56256.1	.	.	.	.	.	.	.	.	.	.	C	2.613	-0.290237	0.05568	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032;ENST00000306026;ENST00000425298;ENST00000479073	T;T;T;T;T;T;T;T	0.32515	2.11;2.1;2.2;2.19;2.1;2.18;2.2;1.45	5.72	0.438	0.16560	Domain of unknown function DUF1872 (1);	1.260270	0.04631	N	0.403623	T	0.15782	0.0380	N	0.08118	0	0.20821	N	0.999842	B;B;B;B;B;B;B	0.28584	0.045;0.035;0.045;0.178;0.002;0.216;0.003	B;B;B;B;B;B;B	0.26969	0.075;0.055;0.075;0.037;0.008;0.072;0.005	T	0.21245	-1.0251	10	0.48119	T	0.1	-0.357	4.0236	0.09677	0.2608:0.4967:0.0:0.2425	.	414;351;341;250;288;336;56	A5PKX8;E9PEG8;E7EN22;O94966;B5MEG5;O94966-2;E7ESU0	.;.;.;UBP19_HUMAN;.;.;.	I	56;288;351;341;288;250;351;336;336;98	ENSP00000381870:S56I;ENSP00000381872:S288I;ENSP00000395260:S351I;ENSP00000400090:S341I;ENSP00000381867:S288I;ENSP00000381863:S250I;ENSP00000401197:S351I;ENSP00000303503:S336I	ENSP00000303503:S336I	S	-	2	0	USP19	49129238	0.040000	0.19996	0.108000	0.21378	0.006000	0.05464	-0.227000	0.09126	-0.136000	0.11475	-0.145000	0.13849	AGC	USP19-013	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345933.1		-	ENST00000453664.1	Missense_Mutation	SNP	3 : 49154234 - 49154234 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	284	15
SLC24A5	283652	broad.mit.edu	37	15	48426538	48426538	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48426538G>A	ENST00000341459.3	+	3	458	c.385G>A	c.(385-387)Ggt>Agt	p.G129S	SLC24A5_ENST00000449382.2_Splice_Site_p.G69S	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	129					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		TGCTTTCCTAGGTAAATATTG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													209	197	201			NA	NA	15		NA											NA				48426538		2198	4297	6495	SO:0001630	splice_region_variant			AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467	283652	283652		Solute carriers	20611	protein-coding gene	gene with protein product	oculocutaneous albinism 6 (autosomal recessive)	609802	solute carrier family 24, member 5		NA	23364476	Standard	NM_205850	XM_005254308	NA	Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.385+1G>A	15.37:g.48426538G>A		NA	Q14CT4|Q6DKH3	37	CCDS10128.1	.	.	.	.	.	.	.	.	.	.	G	35	5.424352	0.96111	.	.	ENSG00000188467	ENST00000341459;ENST00000449382	T;T	0.61040	0.14;0.14	5.65	5.65	0.86999	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.72645	0.3486	L	0.49571	1.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.68337	-0.5435	10	0.40728	T	0.16	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	69;129	A5X8Z9;Q71RS6	.;NCKX5_HUMAN	S	129;69	ENSP00000341550:G129S;ENSP00000389966:G69S	ENSP00000341550:G129S	G	+	1	0	SLC24A5	46213830	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.262000	0.95591	2.941000	0.99782	0.655000	0.94253	GGT	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254340.2	Missense_Mutation	+	ENST00000341459.3	Splice_Site	SNP	15 : 48426538 - 48426538 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	493	79
RPS6KA2	6196	broad.mit.edu	37	6	166864717	166864717	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:166864717A>C	ENST00000405189.3	-	13	1145	c.813T>G	c.(811-813)tcT>tcG	p.S271S	RPS6KA2_ENST00000265678.4_Silent_p.S360S|RPS6KA2_ENST00000503859.1_Silent_p.S368S|RPS6KA2_ENST00000510118.1_Silent_p.S385S|RPS6KA2_ENST00000481261.2_Silent_p.S271S			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	360	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GGACGCCAGGAGAGTCTGTAG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	102	103			NA	NA	6		NA											NA				166864717		2203	4300	6503	SO:0001819	synonymous_variant			L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242	6196	6196			10431	protein-coding gene	gene with protein product		601685	ribosomal protein S6 kinase, 90kD, polypeptide 2		NA	8141249	Standard	NM_021135	NM_001006932	NA	Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000405189.3:c.813T>G	6.37:g.166864717A>C		NA	Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	37																																																																																				RPS6KA2-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000362838.2		-	ENST00000405189.3	Silent	SNP	6 : 166864717 - 166864717 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	586	98
SCAND3	0	broad.mit.edu	37	6	28542676	28542676	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28542676G>T	ENST00000452236.2	-	3	2423	c.1806C>A	c.(1804-1806)tcC>tcA	p.S602S		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN		602					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						AAACTACACAGGATAAAAATC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	52	52			NA	NA	6		NA											NA				28542676		2203	4300	6503	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000452236.2:c.1806C>A	6.37:g.28542676G>T		NA	Q2NKL9|Q5SRJ3|Q8TCN2|Q96MV9|Q96PW3	37	CCDS34355.1																																																																																			SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043551.3		-	ENST00000452236.2	Silent	SNP	6 : 28542676 - 28542676 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	198	43
ZSWIM8	23053	broad.mit.edu	37	10	75561174	75561174	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75561174G>A	ENST00000604729.1	+	26	5699	c.5402G>A	c.(5401-5403)gGc>gAc	p.G1801D	ZSWIM8_ENST00000603114.1_Missense_Mutation_p.G1763D|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.G1804D|RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.G1809D|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.G1622D					zinc finger, SWIM-type containing 8	NA											NA						ACGCCCATGGGCATGATGCAG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	83	82			NA	NA	10		NA											NA				75561174		2171	4270	6441	SO:0001583	missense			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655	23053	23053		Zinc fingers, SWIM-type	23528	protein-coding gene	gene with protein product			KIAA0913	KIAA0913	NA		Standard	NM_001242487	NM_015037	NA	Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000604729.1:c.5402G>A	10.37:g.75561174G>A	ENSP00000474944:p.Gly1801Asp	NA		37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.428584|4.428584	0.83667|0.83667	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000412198|ENST00000398706	.|D	.|0.86297	.|-2.1	5.99|5.99	5.99|5.99	0.97316|0.97316	.|.	.|.	.|.	.|.	.|.	D|D	0.94404|0.94404	0.8200|0.8200	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.999;0.999;0.999	D|D	0.94218|0.94218	0.7465|0.7465	4|8	.|0.87932	.|D	.|0	-0.3688|-0.3688	20.4777|20.4777	0.99188|0.99188	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1804;1808;1796;1809	.|A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4	.|K0913_HUMAN;.;.;.	T|D	1079|1809	.|ENSP00000381693:G1809D	.|ENSP00000381693:G1809D	A|G	+|+	1|2	0|0	KIAA0913|KIAA0913	75231180|75231180	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.824000|9.824000	0.99380|0.99380	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GCA|GGC	ZSWIM8-027	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000468541.1		+	ENST00000604729.1	Missense_Mutation	SNP	10 : 75561174 - 75561174 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	274	52
MACROD2	140733	broad.mit.edu	37	20	15948212	15948212	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:15948212G>A	ENST00000217246.4	+	13	1317	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	MACROD2_ENST00000378058.3_Missense_Mutation_p.E73K|MACROD2_ENST00000402914.1_Missense_Mutation_p.E73K|MACROD2_ENST00000310348.4_Missense_Mutation_p.E308K	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	308	Glu-rich.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TGCAAAGGATGAAAATATTAC	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	116	115			NA	NA	20		NA											NA				15948212		2203	4300	6503	SO:0001583	missense			BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264	140733	140733			16126	protein-coding gene	gene with protein product		611567	chromosome 20 open reading frame 133	C20orf133	NA		Standard	NM_080676	NM_080676	NA	Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000217246.4:c.922G>A	20.37:g.15948212G>A	ENSP00000217246:p.Glu308Lys	NA	A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	37	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	G	10.70	1.424905	0.25639	.	.	ENSG00000172264	ENST00000217246;ENST00000310348;ENST00000402914;ENST00000378058	T;T;T;T	0.47528	2.52;2.52;0.84;0.84	5.33	3.39	0.38822	.	0.249682	0.28796	N	0.014119	T	0.23806	0.0576	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.11817	-1.0572	10	0.42905	T	0.14	-9.2955	5.5574	0.17123	0.1679:0.0:0.6756:0.1565	.	308;308	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	K	308;308;73;73	ENSP00000217246:E308K;ENSP00000309809:E308K;ENSP00000385290:E73K;ENSP00000367297:E73K	ENSP00000217246:E308K	E	+	1	0	MACROD2	15896212	0.914000	0.31030	0.991000	0.47740	0.230000	0.25150	0.803000	0.27083	0.739000	0.32628	0.655000	0.94253	GAA	MACROD2-010	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195553.3		+	ENST00000217246.4	Missense_Mutation	SNP	20 : 15948212 - 15948212 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	439	65
SIGIRR	59307	broad.mit.edu	37	11	407555	407555	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:407555G>A	ENST00000431843.2	-	6	801	c.495C>T	c.(493-495)taC>taT	p.Y165Y	SIGIRR_ENST00000397632.3_Silent_p.Y165Y|SIGIRR_ENST00000531205.1_Silent_p.Y165Y|SIGIRR_ENST00000382520.2_Silent_p.Y165Y|SIGIRR_ENST00000332725.3_Silent_p.Y165Y|SIGIRR_ENST00000529486.1_5'UTR	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	165	TIR.				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGTAGGCGTCGTAGAGCTTCC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	26	26			NA	NA	11		NA											NA				407555		2190	4291	6481	SO:0001819	synonymous_variant				CCDS31325.1	11p15.5	2013-01-11	2005-10-10				59307	59307		Immunoglobulin superfamily / Immunoglobulin-like domain containing	30575	protein-coding gene	gene with protein product	single immunoglobulin domain IL1R1 related	605478			NA	10346978	Standard	NM_021805	NM_021805	NA	Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.495C>T	11.37:g.407555G>A		NA	Q3KQY2|Q6UXI3|Q9H733	37	CCDS31325.1																																																																																			SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383884.3		-	ENST00000431843.2	Silent	SNP	11 : 407555 - 407555 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	108	19
SUCLA2	8803	broad.mit.edu	37	13	48528619	48528619	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:48528619C>A	ENST00000378654.3	-	7	932	c.876G>T	c.(874-876)caG>caT	p.Q292H	SUCLA2_ENST00000544100.1_Missense_Mutation_p.Q158H|SUCLA2_ENST00000543413.1_Missense_Mutation_p.Q234H|SUCLA2_ENST00000534875.1_Missense_Mutation_p.Q234H	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	292					succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	GGGTCCAGTCCTGTAGATCAA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	86	87			NA	NA	13		NA											NA				48528619		2203	4300	6503	SO:0001583	missense			AF058953	CCDS9406.1	13q12.2-q13.3	2010-04-16			ENSG00000136143	ENSG00000136143	8803	8803	6.2.1.5		11448	protein-coding gene	gene with protein product		603921			NA	9765291	Standard		NM_003850	NA	Approved		uc001vbs.3	Q9P2R7	OTTHUMG00000016889	ENST00000378654.3:c.876G>T	13.37:g.48528619C>A	ENSP00000367923:p.Gln292His	NA	B2RDE7|O95194|Q5T9Q4|Q5T9Q6|Q9NV21|Q9NVP7	37	CCDS9406.1	.	.	.	.	.	.	.	.	.	.	c	11.91	1.779577	0.31502	.	.	ENSG00000136143	ENST00000378654;ENST00000378645;ENST00000378642;ENST00000331052;ENST00000544100;ENST00000534875;ENST00000543413;ENST00000541732;ENST00000434484;ENST00000433022	T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	5.67	1.94	0.25998	ATP-grasp fold, subdomain 2 (1);	0.183522	0.51477	D	0.000096	T	0.47173	0.1431	N	0.19112	0.55	0.41963	D	0.990719	B	0.15141	0.012	B	0.19148	0.024	T	0.33394	-0.9870	10	0.51188	T	0.08	0.7528	7.3261	0.26555	0.1155:0.6275:0.0:0.257	.	292	Q9P2R7	SUCB1_HUMAN	H	292;270;222;144;158;234;234;120;222;144	ENSP00000367923:Q292H;ENSP00000443412:Q158H;ENSP00000438182:Q234H;ENSP00000441056:Q234H;ENSP00000392771:Q222H;ENSP00000415091:Q144H	ENSP00000367898:Q144H	Q	-	3	2	SUCLA2	47426620	0.999000	0.42202	0.909000	0.35828	0.983000	0.72400	0.716000	0.25836	0.413000	0.25759	-0.143000	0.13931	CAG	SUCLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044852.1		-	ENST00000378654.3	Missense_Mutation	SNP	13 : 48528619 - 48528619 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	507	108
ENAM	10117	broad.mit.edu	37	4	71510041	71510041	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71510041A>C	ENST00000396073.3	+	9	3179	c.2898A>C	c.(2896-2898)caA>caC	p.Q966H	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	966					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AACTGGGCCAAAAGGAAATTA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	87	87			NA	NA	4		NA											NA				71510041		2203	4300	6503	SO:0001583	missense			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464	10117	10117			3344	protein-coding gene	gene with protein product		606585	amelogenesis imperfecta 2, hypocalcification (autosomal dominant)	AIH2	NA	11978766	Standard	NM_031889	NM_031889	NA	Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.2898A>C	4.37:g.71510041A>C	ENSP00000379383:p.Gln966His	NA	Q17RI5|Q9H3D1	37	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	A	7.698	0.692445	0.15039	.	.	ENSG00000132464	ENST00000396073	T	0.38240	1.15	5.97	-2.09	0.07232	.	0.520767	0.17726	N	0.164066	T	0.38241	0.1033	M	0.84683	2.71	0.09310	N	1	P	0.43094	0.799	P	0.44946	0.465	T	0.36089	-0.9762	10	0.87932	D	0	-1.4631	1.4747	0.02423	0.3903:0.1475:0.319:0.1432	.	966	Q9NRM1	ENAM_HUMAN	H	966	ENSP00000379383:Q966H	ENSP00000379383:Q966H	Q	+	3	2	ENAM	71728905	0.000000	0.05858	0.016000	0.15963	0.025000	0.11179	-0.121000	0.10643	-0.095000	0.12351	-0.256000	0.11100	CAA	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252166.3		+	ENST00000396073.3	Missense_Mutation	SNP	4 : 71510041 - 71510041 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	452	103
LIFR	3977	broad.mit.edu	37	5	38496596	38496596	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38496596C>A	ENST00000263409.4	-	13	1935	c.1773G>T	c.(1771-1773)caG>caT	p.Q591H	LIFR_ENST00000453190.2_Missense_Mutation_p.Q591H|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	591	Fibronectin type-III 4.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CTGCTTTGTGCTGAGGATCAG	0.408		NA	T	PLAG1	salivary adenoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(13;4 730 6426 9861 34751)		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0													224	192	203			NA	NA	5		NA											NA				38496596		2203	4300	6503	SO:0001583	missense			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594	3977	3977		CD molecules, Fibronectin type III domain containing	6597	protein-coding gene	gene with protein product		151443	leukemia inhibitory factor receptor		NA	1915266	Standard	NM_002310	NM_001127671	NA	Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.1773G>T	5.37:g.38496596C>A	ENSP00000263409:p.Gln591His	NA	Q6LCD9	37	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	9.111	1.006685	0.19199	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.54279	0.58;0.58	5.73	-8.16	0.01061	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.758030	0.13202	N	0.405909	T	0.23926	0.0579	N	0.12569	0.235	0.21416	N	0.999698	B	0.12630	0.006	B	0.09377	0.004	T	0.14783	-1.0460	10	0.28530	T	0.3	-18.9492	8.1536	0.31156	0.0973:0.5493:0.0992:0.2542	.	591	P42702	LIFR_HUMAN	H	591	ENSP00000263409:Q591H;ENSP00000398368:Q591H	ENSP00000263409:Q591H	Q	-	3	2	LIFR	38532353	0.010000	0.17322	0.953000	0.39169	0.524000	0.34500	-1.826000	0.01705	-0.804000	0.04410	-1.008000	0.02478	CAG	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253823.1		-	ENST00000263409.4	Missense_Mutation	SNP	5 : 38496596 - 38496596 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	517	109
KIAA0355	9710	broad.mit.edu	37	19	34832959	34832959	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34832959C>T	ENST00000299505.6	+	10	2993	c.2120C>T	c.(2119-2121)gCa>gTa	p.A707V		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	707										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CAGGCTGGGGCACACACACCT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	85	84			NA	NA	19		NA											NA				34832959		2203	4300	6503	SO:0001583	missense				CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398	9710	9710			29016	protein-coding gene	gene with protein product					NA	9205841	Standard	NM_014686	NM_014686	NA	Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.2120C>T	19.37:g.34832959C>T	ENSP00000299505:p.Ala707Val	NA	Q2M3W4	37	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.368916	0.61624	.	.	ENSG00000166398	ENST00000299505	T	0.25749	1.78	5.53	4.5	0.54988	.	0.548014	0.19528	N	0.112116	T	0.18841	0.0452	N	0.19112	0.55	0.35247	D	0.778351	B	0.02656	0.0	B	0.06405	0.002	T	0.11966	-1.0566	10	0.87932	D	0	-8.4863	13.4084	0.60926	0.0:0.9245:0.0:0.0755	.	707	O15063	K0355_HUMAN	V	707	ENSP00000299505:A707V	ENSP00000299505:A707V	A	+	2	0	KIAA0355	39524799	0.735000	0.28153	0.988000	0.46212	0.957000	0.61999	4.101000	0.57769	1.344000	0.45657	0.655000	0.94253	GCA	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451678.4		+	ENST00000299505.6	Missense_Mutation	SNP	19 : 34832959 - 34832959 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	687	125
TRAM1L1	133022	broad.mit.edu	37	4	118006158	118006158	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:118006158A>C	ENST00000310754.4	-	1	578	c.392T>G	c.(391-393)tTt>tGt	p.F131C		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	131	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						AATACAAGAAAAAAAGTAGAA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	72	73			NA	NA	4		NA											NA				118006158		2203	4300	6503	SO:0001583	missense			AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599	133022	133022			28371	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152402	NM_152402	NA	Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.392T>G	4.37:g.118006158A>C	ENSP00000309402:p.Phe131Cys	NA	Q8N2L7	37	CCDS3707.1	.	.	.	.	.	.	.	.	.	.	A	10.20	1.285381	0.23478	.	.	ENSG00000174599	ENST00000310754	D	0.86366	-2.11	4.29	3.1	0.35709	TRAM/LAG1/CLN8 homology domain (3);	0.153083	0.64402	D	0.000015	D	0.87418	0.6172	L	0.36672	1.1	0.37683	D	0.923555	D	0.58620	0.983	D	0.63793	0.918	D	0.87434	0.2390	10	0.56958	D	0.05	-27.7925	8.2484	0.31702	0.9029:0.0:0.0971:0.0	.	131	Q8N609	TR1L1_HUMAN	C	131	ENSP00000309402:F131C	ENSP00000309402:F131C	F	-	2	0	TRAM1L1	118225606	1.000000	0.71417	0.008000	0.14137	0.005000	0.04900	6.273000	0.72581	0.970000	0.38263	0.533000	0.62120	TTT	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256513.1		-	ENST00000310754.4	Missense_Mutation	SNP	4 : 118006158 - 118006158 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	413	78
PSG1	5669	broad.mit.edu	37	19	43372352	43372352	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43372352G>A	ENST00000244296.2	-	5	1281	c.1144C>T	c.(1144-1146)Cgc>Tgc	p.R382C	PSG1_ENST00000403380.3_Missense_Mutation_p.R289C|PSG1_ENST00000312439.6_Missense_Mutation_p.R382C|PSG1_ENST00000595356.1_Missense_Mutation_p.R382C|PSG1_ENST00000436291.2_Missense_Mutation_p.R382C|PSG1_ENST00000595124.1_Missense_Mutation_p.R289C	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1	NA										breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GTAATATGGCGGATAAAGAGC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													188	195	193			NA	NA	19		NA											NA				43372352		2201	4298	6499	SO:0001583	missense				CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924	NA	5669		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	9514	protein-coding gene	gene with protein product		176390		PSBG1	NA		Standard		NM_006905	NA	Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000244296.2:c.1144C>T	19.37:g.43372352G>A	ENSP00000244296:p.Arg382Cys	NA		37	CCDS12612.1	.	.	.	.	.	.	.	.	.	.	N	10.39	1.337983	0.24253	.	.	ENSG00000231924	ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	T;T;T;T	0.13901	2.55;2.55;2.55;2.55	1.07	1.07	0.20283	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.22003	0.0530	M	0.64997	1.995	0.09310	N	1	P;D;P;D;P;D;D	0.60160	0.719;0.972;0.872;0.981;0.753;0.966;0.987	B;P;P;P;B;P;P	0.55011	0.443;0.655;0.69;0.69;0.371;0.717;0.766	T	0.08576	-1.0715	9	0.48119	T	0.1	.	5.469	0.16660	0.0:0.0:1.0:0.0	.	382;289;382;289;382;289;254	P11464-4;G5E9F7;P11464;Q8NBY8;P11464-3;Q9UPK8;B4DTG5	.;.;PSG1_HUMAN;.;.;.;.	C	382;289;382;382	ENSP00000413041:R382C;ENSP00000385386:R289C;ENSP00000308970:R382C;ENSP00000244296:R382C	ENSP00000244296:R382C	R	-	1	0	PSG1	48064192	0.017000	0.18338	0.018000	0.16275	0.002000	0.02628	1.671000	0.37513	0.860000	0.35481	0.195000	0.17529	CGC	PSG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321427.1		-	ENST00000244296.2	Missense_Mutation	SNP	19 : 43372352 - 43372352 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1250	236
MRPS35	60488	broad.mit.edu	37	12	27869269	27869269	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:27869269C>T	ENST00000081029.3	+	3	270	c.199C>T	c.(199-201)Cct>Tct	p.P67S	MRPS35_ENST00000538315.1_Missense_Mutation_p.P67S	NM_021821.3	NP_068593.2	P82673	RT35_HUMAN	mitochondrial ribosomal protein S35	67					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					CCAGGACTGGCCTAGTGTTTA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	89	91			NA	NA	12		NA											NA				27869269		2203	4300	6503	SO:0001583	missense			AF182422	CCDS8714.1, CCDS53769.1	12p11	2012-09-13			ENSG00000061794	ENSG00000061794	60488	60488		Mitochondrial ribosomal proteins / small subunits	16635	protein-coding gene	gene with protein product		611995			NA	11279123	Standard	NM_021821	NM_021821	NA	Approved	MRPS28, MDS023	uc001rih.3	P82673	OTTHUMG00000169215	ENST00000081029.3:c.199C>T	12.37:g.27869269C>T	ENSP00000081029:p.Pro67Ser	NA	Q32LZ1|Q6P4C6|Q7L1M6|Q8NBP4|Q96AI0|Q9H044|Q9HC14|Q9P1R5	37	CCDS8714.1	.	.	.	.	.	.	.	.	.	.	C	8.346	0.829827	0.16749	.	.	ENSG00000061794	ENST00000081029;ENST00000321446;ENST00000538315	T;T	0.41758	1.0;0.99	5.81	2.73	0.32206	.	0.338596	0.34700	N	0.003748	T	0.23766	0.0575	L	0.39467	1.215	0.30240	N	0.795102	B;B	0.22146	0.022;0.065	B;B	0.22753	0.041;0.018	T	0.14117	-1.0484	10	0.07813	T	0.8	-10.0961	1.6724	0.02814	0.235:0.4684:0.1204:0.1762	.	67;67	P82673-2;P82673	.;RT35_HUMAN	S	67	ENSP00000081029:P67S;ENSP00000445390:P67S	ENSP00000081029:P67S	P	+	1	0	MRPS35	27760536	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.630000	0.46494	0.792000	0.33850	-0.150000	0.13652	CCT	MRPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402897.1		+	ENST00000081029.3	Missense_Mutation	SNP	12 : 27869269 - 27869269 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	321	63
PIAS4	51588	broad.mit.edu	37	19	4033503	4033503	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4033503T>C	ENST00000262971.2	+	9	1182	c.1067T>C	c.(1066-1068)aTg>aCg	p.M356T		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	356					positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TACCTGCAGATGAACGAGAAG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	37	39			NA	NA	19		NA											NA				4033503		2194	4298	6492	SO:0001583	missense			AF077952	CCDS12118.1	19p13.3	2011-10-11					51588	51588		Zinc fingers, MIZ-type	17002	protein-coding gene	gene with protein product	zinc finger, MIZ-type containing 6	605989			NA	9724754	Standard	NM_015897	NM_015897	NA	Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.1067T>C	19.37:g.4033503T>C	ENSP00000262971:p.Met356Thr	NA	O75926|Q96G19|Q9UN16	37	CCDS12118.1	.	.	.	.	.	.	.	.	.	.	T	19.99	3.928367	0.73327	.	.	ENSG00000105229	ENST00000262971	T	0.16073	2.37	4.21	4.21	0.49690	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, MIZ-type (2);	0.000000	0.85682	D	0.000000	T	0.34221	0.0890	L	0.58969	1.84	0.80722	D	1	D	0.55172	0.97	P	0.62813	0.907	T	0.09207	-1.0685	10	0.87932	D	0	-46.3971	12.4927	0.55909	0.0:0.0:0.0:1.0	.	356	Q8N2W9	PIAS4_HUMAN	T	356	ENSP00000262971:M356T	ENSP00000262971:M356T	M	+	2	0	PIAS4	3984503	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.952000	0.87827	1.547000	0.49401	0.459000	0.35465	ATG	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457496.1		+	ENST00000262971.2	Missense_Mutation	SNP	19 : 4033503 - 4033503 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	80	17
KALRN	8997	broad.mit.edu	37	3	124413317	124413317	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124413317A>C	ENST00000291478.5	+	20	2616	c.2453A>C	c.(2452-2454)gAt>gCt	p.D818A	KALRN_ENST00000360013.3_Missense_Mutation_p.D2515A|KALRN_ENST00000428018.2_Missense_Mutation_p.D786A	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	NA					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTTGACACTGATAACAGCTCA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	129	136			NA	NA	3		NA											NA				124413317		2203	4300	6503	SO:0001583	missense			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145	8997	8997		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	4814	protein-coding gene	gene with protein product	serine/threonine kinase with Dbl and pleckstrin homology domains	604605	huntingtin-associated protein interacting protein (duo)	HAPIP	NA	9285789, 10023074	Standard	NM_003947	NM_001024660	NA	Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.2453A>C	3.37:g.124413317A>C	ENSP00000291478:p.Asp818Ala	NA	A8MSI4|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	37	CCDS3028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.4|24.4	4.529633|4.529633	0.85706|0.85706	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018|ENST00000354186	T;T;T|.	0.63255|.	-0.03;0.02;0.0|.	6.07|6.07	6.07|6.07	0.98685|0.98685	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.119778|.	0.56097|.	D|.	0.000030|.	T|T	0.46054|0.46054	0.1373|0.1373	N|N	0.16368|0.16368	0.405|0.405	0.34787|0.34787	D|D	0.735332|0.735332	B;B|.	0.25441|.	0.126;0.033|.	B;B|.	0.31946|.	0.138;0.042|.	T|T	0.55366|0.55366	-0.8152|-0.8152	10|5	0.54805|.	T|.	0.06|.	.|.	16.6406|16.6406	0.85098|0.85098	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	818;2514|.	C9JQ37;O60229|.	.;KALRN_HUMAN|.	A|L	2515;818;786|2484	ENSP00000353109:D2515A;ENSP00000291478:D818A;ENSP00000402419:D786A|.	ENSP00000291478:D818A|.	D|I	+|+	2|1	0|0	KALRN|KALRN	125896007|125896007	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.968000|0.968000	0.65278|0.65278	4.526000|4.526000	0.60566|0.60566	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	GAT|ATA	KALRN-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000246891.5		+	ENST00000291478.5	Missense_Mutation	SNP	3 : 124413317 - 124413317 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	519	82
CNTN1	1272	broad.mit.edu	37	12	41410595	41410595	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41410595C>T	ENST00000551295.2	+	19	2413	c.2296C>T	c.(2296-2298)Cga>Tga	p.R766*	CNTN1_ENST00000348761.2_Nonsense_Mutation_p.R755*|CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000347616.1_Nonsense_Mutation_p.R766*	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	766	Fibronectin type-III 2.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TGATACTGGCCGATATGTCCA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	117	123			NA	NA	12		NA											NA				41410595		2203	4300	6503	SO:0001587	stop_gained			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236	1272	1272		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing, Endogenous ligands	2171	protein-coding gene	gene with protein product	glycoprotein gP135	600016			NA	7959734, 8586965	Standard	NM_001843	NM_001843	NA	Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2296C>T	12.37:g.41410595C>T	ENSP00000447006:p.Arg766*	NA	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	37	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	C	36	5.832891	0.97003	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	.	.	.	5.35	-2.88	0.05682	.	0.113585	0.64402	D	0.000013	.	.	.	.	.	.	0.22911	N	0.998577	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8613	0.52467	0.5695:0.3721:0.0:0.0583	.	.	.	.	X	766;766;755	.	ENSP00000325660:R766X	R	+	1	2	CNTN1	39696862	0.819000	0.29175	0.027000	0.17364	0.453000	0.32348	1.290000	0.33319	-0.637000	0.05516	-0.262000	0.10625	CGA	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403692.2		+	ENST00000551295.2	Nonsense_Mutation	SNP	12 : 41410595 - 41410595 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	493	95
ZNF83	55769	broad.mit.edu	37	19	53117594	53117594	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53117594A>C	ENST00000597597.1	-	2	2477	c.224T>G	c.(223-225)tTt>tGt	p.F75C	ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000536937.1_Missense_Mutation_p.F75C|ZNF83_ENST00000391789.4_Missense_Mutation_p.F75C|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000301096.3_Missense_Mutation_p.F75C|ZNF83_ENST00000545872.1_Missense_Mutation_p.F75C|ZNF83_ENST00000544146.1_Missense_Mutation_p.F75C|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000541777.2_Missense_Mutation_p.F75C			P51522	ZNF83_HUMAN	zinc finger protein 83	75						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TGAATCCACAAAATTACATTC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	72	72			NA	NA	19		NA											NA				53117594		2203	4300	6503	SO:0001583	missense			M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766	55769	55769		Zinc fingers, C2H2-type	13158	protein-coding gene	gene with protein product		194558	zinc finger protein 83 (HPF1), zinc finger protein 816B	ZNF816B	NA	8088807	Standard	NM_018300	NM_018300	NA	Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.224T>G	19.37:g.53117594A>C	ENSP00000472619:p.Phe75Cys	NA	A8MT75|Q3ZCX0|Q6PI08	37	CCDS12854.1	.	.	.	.	.	.	.	.	.	.	a	12.24	1.877900	0.33162	.	.	ENSG00000167766	ENST00000536937;ENST00000301096;ENST00000544146;ENST00000434535;ENST00000545872;ENST00000541777;ENST00000391789	T;T;T;T;T;T	0.09163	3.03;3.03;3.03;3.03;3.03;3.01	2.43	2.43	0.29744	.	.	.	.	.	T	0.34019	0.0883	M	0.88377	2.95	0.09310	N	1	D;D	0.89917	0.998;1.0	P;D	0.83275	0.889;0.996	T	0.06463	-1.0825	9	0.36615	T	0.2	.	8.3566	0.32333	1.0:0.0:0.0:0.0	.	75;75	P51522-2;P51522	.;ZNF83_HUMAN	C	75	ENSP00000445993:F75C;ENSP00000301096:F75C;ENSP00000445470:F75C;ENSP00000440713:F75C;ENSP00000439681:F75C;ENSP00000375666:F75C	ENSP00000301096:F75C	F	-	2	0	ZNF83	57809406	0.009000	0.17119	0.001000	0.08648	0.001000	0.01503	1.334000	0.33827	1.099000	0.41499	0.482000	0.46254	TTT	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463700.1		-	ENST00000597597.1	Missense_Mutation	SNP	19 : 53117594 - 53117594 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	291	59
ZSWIM5	57643	broad.mit.edu	37	1	45553598	45553598	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45553598C>T	ENST00000359600.5	-	2	1112	c.907G>A	c.(907-909)Gca>Aca	p.A303T		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	303							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ATCTCATCTGCCAGTTTCTGT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	135	138			NA	NA	1		NA											NA				45553598		1855	4097	5952	SO:0001583	missense			AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415	57643	57643		Zinc fingers, SWIM-type	29299	protein-coding gene	gene with protein product					NA	10819331	Standard	XM_046581	NM_020883	NA	Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.907G>A	1.37:g.45553598C>T	ENSP00000352614:p.Ala303Thr	NA	Q5SXQ9	37	CCDS41319.1	.	.	.	.	.	.	.	.	.	.	C	33	5.209779	0.95069	.	.	ENSG00000162415	ENST00000359600	T	0.21361	2.01	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.49847	0.1581	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.54944	-0.8217	10	0.52906	T	0.07	-8.6546	18.0844	0.89453	0.0:1.0:0.0:0.0	.	303	Q9P217	ZSWM5_HUMAN	T	303	ENSP00000352614:A303T	ENSP00000352614:A303T	A	-	1	0	ZSWIM5	45326185	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.772000	0.85439	2.432000	0.82394	0.563000	0.77884	GCA	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000024823.2		-	ENST00000359600.5	Missense_Mutation	SNP	1 : 45553598 - 45553598 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	710	70
C2orf57	165100	broad.mit.edu	37	2	232458282	232458282	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232458282C>A	ENST00000313965.2	+	1	708	c.620C>A	c.(619-621)gCt>gAt	p.A207D		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	207										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		CACCCTGAAGCTGAAGCTTTA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	140	142			NA	NA	2		NA											NA				232458282		2203	4300	6503	SO:0001583	missense			BC034405	CCDS2487.1	2q37.1	2008-02-05			ENSG00000177673	ENSG00000177673	165100	165100			28563	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152614	NM_152614	NA	Approved	MGC35154	uc002vrz.3	Q53QW1	OTTHUMG00000133226	ENST00000313965.2:c.620C>A	2.37:g.232458282C>A	ENSP00000315557:p.Ala207Asp	NA	Q8N4F2	37	CCDS2487.1	.	.	.	.	.	.	.	.	.	.	c	13.26	2.185264	0.38609	.	.	ENSG00000177673	ENST00000313965	T	0.20069	2.1	3.96	-1.64	0.08318	.	2.133630	0.02561	N	0.096744	T	0.09468	0.0233	N	0.08118	0	0.09310	N	1	P	0.38020	0.615	B	0.34779	0.189	T	0.07046	-1.0793	10	0.62326	D	0.03	.	0.3447	0.00339	0.2795:0.2725:0.2342:0.2138	.	207	Q53QW1	CB057_HUMAN	D	207	ENSP00000315557:A207D	ENSP00000315557:A207D	A	+	2	0	C2orf57	232166526	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.142000	0.16096	-0.509000	0.06532	0.563000	0.77884	GCT	C2orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256962.1		+	ENST00000313965.2	Missense_Mutation	SNP	2 : 232458282 - 232458282 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	623	202
SLC17A4	10050	broad.mit.edu	37	6	25771219	25771219	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25771219C>T	ENST00000377905.4	+	6	804	c.685C>T	c.(685-687)Cct>Tct	p.P229S	SLC17A4_ENST00000439485.2_Intron|SLC17A4_ENST00000397076.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	229					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CATAGGATGGCCTTACGTCTT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													297	277	284			NA	NA	6		NA											NA				25771219		2203	4300	6503	SO:0001583	missense			AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039	10050	10050		Solute carriers	10932	protein-coding gene	gene with protein product		604216	solute carrier family 17 (sodium phosphate), member 4		NA	10319585	Standard		NM_005495	NA	Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.685C>T	6.37:g.25771219C>T	ENSP00000367137:p.Pro229Ser	NA	Q32MB7	37	CCDS4564.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.207591	0.79240	.	.	ENSG00000146039	ENST00000377905	T	0.58358	0.34	5.69	5.69	0.88448	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.399292	0.21607	N	0.071844	T	0.65801	0.2726	M	0.75085	2.285	0.80722	D	1	D	0.61080	0.989	D	0.73380	0.98	T	0.62006	-0.6945	10	0.37606	T	0.19	.	15.6767	0.77332	0.0:1.0:0.0:0.0	.	229	Q9Y2C5	S17A4_HUMAN	S	229	ENSP00000367137:P229S	ENSP00000367137:P229S	P	+	1	0	SLC17A4	25879198	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.603000	0.46266	2.860000	0.98153	0.655000	0.94253	CCT	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040068.1		+	ENST00000377905.4	Missense_Mutation	SNP	6 : 25771219 - 25771219 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	998	63
ARHGAP21	57584	broad.mit.edu	37	10	24880896	24880896	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24880896G>A	ENST00000396432.2	-	22	4408	c.3922C>T	c.(3922-3924)Cga>Tga	p.R1308*	ARHGAP21_ENST00000320481.6_Nonsense_Mutation_p.R1095*	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1307	Rho-GAP.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TCTGATGTTCGAACAAGGGTG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													193	160	172			NA	NA	10		NA											NA				24880896		2203	4300	6503	SO:0001587	stop_gained			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863	57584	57584		Rho GTPase activating proteins, Pleckstrin homology (PH) domain containing	23725	protein-coding gene	gene with protein product		609870			NA	12056806	Standard	NM_020824	NM_020824	NA	Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.3922C>T	10.37:g.24880896G>A	ENSP00000379709:p.Arg1308*	NA	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	37	CCDS7144.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.207246|9.207246	0.99099|0.99099	.|.	.|.	ENSG00000107863|ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000320481|ENST00000418033	.|.	.|.	.|.	5.76|5.76	2.3|2.3	0.28687|0.28687	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.63200	.|0.2491	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68435	.|-0.5409	.|3	0.02654|.	T|.	1|.	.|.	14.3043|14.3043	0.66375|0.66375	0.0:0.0:0.4766:0.5234|0.0:0.0:0.4766:0.5234	.|.	.|.	.|.	.|.	X|L	1308;757;1095|121	.|.	ENSP00000365604:R1095X|.	R|S	-|-	1|2	2|0	ARHGAP21|ARHGAP21	24920902|24920902	0.960000|0.960000	0.32886|0.32886	0.035000|0.035000	0.18076|0.18076	0.907000|0.907000	0.53573|0.53573	1.010000|1.010000	0.29898|0.29898	0.246000|0.246000	0.21394|0.21394	0.655000|0.655000	0.94253|0.94253	CGA|TCG	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047229.4		-	ENST00000396432.2	Nonsense_Mutation	SNP	10 : 24880896 - 24880896 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	676	105
HOXA1	3198	broad.mit.edu	37	7	27135377	27135377	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27135377C>T	ENST00000343060.4	-	1	216	c.155G>A	c.(154-156)cGc>cAc	p.R52H	HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_Missense_Mutation_p.R52H	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	52						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CACTAGGAAGCGGTCGTCGCC	0.662		NA									OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	43	41			NA	NA	7		NA											NA				27135377		2203	4299	6502	SO:0001583	missense				CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991	3198	3198		Homeoboxes / ANTP class : HOXL subclass	5099	protein-coding gene	gene with protein product		142955	homeo box A1	HOX1F, HOX1	NA	1973146	Standard		NM_153620	NA	Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.155G>A	7.37:g.27135377C>T	ENSP00000343246:p.Arg52His	792	A4D184|B2R8U7|O43363	37	CCDS5401.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.272594	0.40194	.	.	ENSG00000105991	ENST00000343060;ENST00000355633	T;T	0.37915	1.17;1.17	5.15	3.34	0.38264	.	0.338386	0.31268	N	0.007949	T	0.51075	0.1653	L	0.56340	1.77	0.58432	D	0.999993	B;D	0.89917	0.001;1.0	B;D	0.87578	0.001;0.998	T	0.41448	-0.9508	10	0.42905	T	0.14	.	10.3151	0.43732	0.0:0.8353:0.0:0.1647	.	52;52	P49639;E7ERT8	HXA1_HUMAN;.	H	52	ENSP00000343246:R52H;ENSP00000347851:R52H	ENSP00000343246:R52H	R	-	2	0	HOXA1	27101902	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	2.198000	0.42705	0.562000	0.29204	0.297000	0.19635	CGC	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358454.1		-	ENST00000343060.4	Missense_Mutation	SNP	7 : 27135377 - 27135377 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	576	89
LRBA	987	broad.mit.edu	37	4	151749384	151749384	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151749384C>T	ENST00000510413.1	-	30	5403	c.5119G>A	c.(5119-5121)Gcc>Acc	p.A1707T	LRBA_ENST00000535741.1_Missense_Mutation_p.A1707T|LRBA_ENST00000507224.1_Missense_Mutation_p.A1707T|LRBA_ENST00000357115.3_Missense_Mutation_p.A1707T	NM_001199282.2	NP_001186211.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1707						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TCACCAAGGGCTCCAAGGCAG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	116	121			NA	NA	4		NA											NA				151749384		2203	4300	6503	SO:0001583	missense			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589	987	987		WD repeat domain containing	1742	protein-coding gene	gene with protein product		606453		CDC4L	NA	1505956, 11254716	Standard		NM_006726	NA	Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000510413.1:c.5119G>A	4.37:g.151749384C>T	ENSP00000421552:p.Ala1707Thr	NA	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	37	CCDS58928.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399829	0.25291	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.56444	0.88;1.03;0.88;0.46	5.72	2.56	0.30785	.	0.684498	0.14058	N	0.344240	T	0.39226	0.1070	L	0.40543	1.245	0.18873	N	0.999989	B;B	0.06786	0.001;0.001	B;B	0.09377	0.002;0.004	T	0.23119	-1.0197	10	0.13470	T	0.59	.	9.7525	0.40483	0.0:0.7331:0.1203:0.1465	.	1707;1707	P50851;P50851-2	LRBA_HUMAN;.	T	1707	ENSP00000446299:A1707T;ENSP00000421552:A1707T;ENSP00000349629:A1707T;ENSP00000422180:A1707T	ENSP00000349629:A1707T	A	-	1	0	LRBA	151968834	0.207000	0.23482	0.992000	0.48379	0.947000	0.59692	0.518000	0.22847	0.743000	0.32719	0.484000	0.47621	GCC	LRBA-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364938.1		-	ENST00000510413.1	Missense_Mutation	SNP	4 : 151749384 - 151749384 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	600	88
STK10	6793	broad.mit.edu	37	5	171532714	171532714	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171532714C>A	ENST00000176763.5	-	7	1159	c.816G>T	c.(814-816)aaG>aaT	p.K272N		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	272	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCAGGGCTATCTTCAGGAAGT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	99	104			NA	NA	5		NA											NA				171532714		2203	4300	6503	SO:0001583	missense			AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786	6793	6793			11388	protein-coding gene	gene with protein product		603919			NA	10199912	Standard	NM_005990	NM_005990	NA	Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.816G>T	5.37:g.171532714C>A	ENSP00000176763:p.Lys272Asn	NA	A6ND35|B2R8F5|Q9UIW4	37	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.458121	0.43634	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.20200	2.09	4.74	3.87	0.44632	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.122273	0.53938	D	0.000050	T	0.22513	0.0543	L	0.28504	0.86	0.58432	D	0.999998	P	0.35923	0.528	P	0.45856	0.495	T	0.04373	-1.0956	10	0.66056	D	0.02	.	10.4896	0.44744	0.0:0.9043:0.0:0.0957	.	272	O94804	STK10_HUMAN	N	272	ENSP00000176763:K272N	ENSP00000176763:K272N	K	-	3	2	STK10	171465319	0.984000	0.35163	0.759000	0.31340	0.579000	0.36224	1.338000	0.33873	0.977000	0.38444	0.655000	0.94253	AAG	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372374.2		-	ENST00000176763.5	Missense_Mutation	SNP	5 : 171532714 - 171532714 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	416	79
COMP	1311	broad.mit.edu	37	19	18893930	18893930	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18893930G>A	ENST00000542601.2	-	17	2451	c.2062C>T	c.(2062-2064)Cgc>Tgc	p.R688C	COMP_ENST00000222271.2_Missense_Mutation_p.R721C|COMP_ENST00000425807.1_Missense_Mutation_p.R668C			P49747	COMP_HUMAN	cartilage oligomeric matrix protein	721	Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						ACCCCCAGGCGGCCACCCCGC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	48	47			NA	NA	19		NA											NA				18893930		2203	4300	6503	SO:0001583	missense			L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664	1311	1311			2227	protein-coding gene	gene with protein product	thrombospondin-5	600310	cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)	PSACH, EDM1, EPD1	NA	7713493, 8307576	Standard	NM_000095	NM_000095	NA	Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000542601.2:c.2062C>T	19.37:g.18893930G>A	ENSP00000439156:p.Arg688Cys	NA	O14592|Q16388|Q16389|Q2NL86|Q8N4T2	37		.	.	.	.	.	.	.	.	.	.	G	21.1	4.102624	0.76983	.	.	ENSG00000105664	ENST00000542601;ENST00000222271;ENST00000425807;ENST00000454701	D;D;D	0.97378	-4.36;-4.36;-4.36	4.61	4.61	0.57282	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.64402	U	0.000003	D	0.98692	0.9561	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99813	1.1042	10	0.87932	D	0	-32.7372	15.9884	0.80179	0.0:0.0:1.0:0.0	.	668;721	B4DKJ3;P49747	.;COMP_HUMAN	C	688;721;668;708	ENSP00000439156:R688C;ENSP00000222271:R721C;ENSP00000403792:R668C	ENSP00000222271:R721C	R	-	1	0	COMP	18754930	1.000000	0.71417	0.855000	0.33649	0.811000	0.45836	5.325000	0.65869	2.120000	0.65058	0.313000	0.20887	CGC	COMP-007	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000403456.1		-	ENST00000542601.2	Missense_Mutation	SNP	19 : 18893930 - 18893930 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	314	58
ASIC2	40	broad.mit.edu	37	17	32483180	32483180	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32483180C>T	ENST00000359872.6	-	1	1133	c.372G>A	c.(370-372)ccG>ccA	p.P124P		NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	124					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding				NA					Amiloride(DB00594)	GATGGGGGTCCGGGATCTGCA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	92	88			NA	NA	17		NA											NA				32483180		2161	4264	6425	SO:0001819	synonymous_variant			AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684	40	40		Ion channels / Acid-sensing (proton-gated) ion channels	99	protein-coding gene	gene with protein product	degenerin	601784	amiloride-sensitive cation channel 1, neuronal	ACCN, ACCN1	NA	8921408	Standard	NM_183377, NM_001094	NM_183377	NA	Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.372G>A	17.37:g.32483180C>T		NA	Q13553|Q6DJU1|Q8N3E2	37	CCDS42296.1																																																																																			ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447552.1		-	ENST00000359872.6	Silent	SNP	17 : 32483180 - 32483180 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	561	62
NEXN	91624	broad.mit.edu	37	1	78392549	78392549	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78392549G>A	ENST00000334785.7	+	8	1020	c.836G>A	c.(835-837)cGt>cAt	p.R279H	NEXN_ENST00000457030.1_Missense_Mutation_p.R265H|NEXN_ENST00000330010.8_Missense_Mutation_p.R215H	NM_144573.3	NP_653174.3	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	279	Glu-rich.		R -> C (in CMH20; the mutant protein accumulates in the cytoplasm but binding to ACTA1 is not altered).		regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GAAGAGAAGCGTGCTTTTGAA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	84	85			NA	NA	1		NA											NA				78392549		1848	4103	5951	SO:0001583	missense			AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614	91624	91624		Immunoglobulin superfamily / I-set domain containing	29557	protein-coding gene	gene with protein product		613121			NA	12053183, 8227983	Standard	NM_144573	NM_144573	NA	Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.836G>A	1.37:g.78392549G>A	ENSP00000333938:p.Arg279His	NA	A0PJ84|Q0D2H2|Q14CC2|Q14CC3|Q16081|Q7Z2X0|Q96DL0|Q9Y2V1	37	CCDS41351.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.15|16.15	3.042667|3.042667	0.55003|0.55003	.|.	.|.	ENSG00000162614|ENSG00000162614	ENST00000401035;ENST00000457030;ENST00000330010;ENST00000334785;ENST00000440324|ENST00000342754	T;T;T;T;T|.	0.68765|.	-0.31;-0.01;-0.11;-0.04;-0.35|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.50627|.	D|.	0.000105|.	T|T	0.74076|0.74076	0.3669|0.3669	M|M	0.77313|0.77313	2.365|2.365	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999|.	D;D;D;D|.	0.68621|.	0.911;0.959;0.947;0.911|.	T|T	0.73341|0.73341	-0.4013|-0.4013	10|5	0.52906|.	T|.	0.07|.	-7.3584|-7.3584	19.6747|19.6747	0.95926|0.95926	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	215;265;279;215|.	D3DQ79;Q0ZGT2-2;Q0ZGT2;B4DPZ7|.	.;.;NEXN_HUMAN;.|.	H|M	215;265;215;279;265|179	ENSP00000383814:R215H;ENSP00000388048:R265H;ENSP00000327363:R215H;ENSP00000333938:R279H;ENSP00000411902:R265H|.	ENSP00000327363:R215H|.	R|V	+|+	2|1	0|0	NEXN|NEXN	78165137|78165137	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.491000|0.491000	0.33493|0.33493	4.816000|4.816000	0.62642|0.62642	2.642000|2.642000	0.89623|0.89623	0.655000|0.655000	0.94253|0.94253	CGT|GTG	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097549.1		+	ENST00000334785.7	Missense_Mutation	SNP	1 : 78392549 - 78392549 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	475	59
MST1	4485	broad.mit.edu	37	3	49725205	49725205	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49725205A>C	ENST00000449682.2	-	2	581	c.220T>G	c.(220-222)Tgt>Ggt	p.C74G	MST1_ENST00000383728.3_Intron|MST1_ENST00000545762.1_Missense_Mutation_p.C60G|MST1_ENST00000494828.2_Intron	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	60	PAN.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AAGGGCCCACAGCGACCAGCA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(110;181 1524 8005 22865 46297)							NA				0													42	39	40			NA	NA	3		NA											NA				49725205		2203	4299	6502	SO:0001583	missense			M74178	CCDS33757.2	3p21	2008-09-05			ENSG00000173531	ENSG00000173531	4485	4485			7380	protein-coding gene	gene with protein product	hepatocyte growth factor-like protein homolog	142408		D3F15S2, HGFL, DNF15S2	NA	2902784, 8393443	Standard	NM_020998	NM_020998	NA	Approved	MSP, NF15S2	uc003cxg.3	P26927	OTTHUMG00000155918	ENST00000449682.2:c.220T>G	3.37:g.49725205A>C	ENSP00000414287:p.Cys74Gly	NA	A6NLA3|A8MSX3|Q13350|Q14870|Q6GTN4	37	CCDS33757.2	.	.	.	.	.	.	.	.	.	.	A	20.7	4.032623	0.75504	.	.	ENSG00000173531	ENST00000449682;ENST00000545762	D;D	0.99207	-5.56;-5.56	5.3	5.3	0.74995	.	0.000000	0.46145	D	0.000308	D	0.99214	0.9727	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	D	0.99399	1.0927	10	0.87932	D	0	.	14.1063	0.65091	1.0:0.0:0.0:0.0	.	60;74	B7Z538;G3XAK1	.;.	G	74;60	ENSP00000414287:C74G;ENSP00000437535:C60G	ENSP00000411117:C74G	C	-	1	0	MST1	49700209	1.000000	0.71417	0.082000	0.20525	0.912000	0.54170	6.637000	0.74304	2.136000	0.66102	0.482000	0.46254	TGT	MST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342315.3		-	ENST00000449682.2	Missense_Mutation	SNP	3 : 49725205 - 49725205 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	421	58
TAAR8	83551	broad.mit.edu	37	6	132874819	132874819	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132874819T>A	ENST00000275200.1	+	1	988	c.988T>A	c.(988-990)Tta>Ata	p.L330I		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	330						plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TGGAGATGTTTTAAAGGCTAG	0.264		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	52	51			NA	NA	6		NA											NA				132874819		2202	4300	6502	SO:0001583	missense			AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385	83551	83551		GPCR / Class A : Trace amine associated receptors	14964	protein-coding gene	gene with protein product		606927	trace amine receptor 5	GPR102, TRAR5	NA	11574155, 15718104	Standard	NM_053278	NM_053278	NA	Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.988T>A	6.37:g.132874819T>A	ENSP00000275200:p.Leu330Ile	NA	Q5VUQ0	37	CCDS5154.1	.	.	.	.	.	.	.	.	.	.	T	9.335	1.061570	0.19987	.	.	ENSG00000146385	ENST00000275200	T	0.70045	-0.45	4.3	1.76	0.24704	.	0.460485	0.17385	N	0.176156	T	0.60431	0.2268	M	0.79805	2.47	0.19945	N	0.999946	P	0.44521	0.837	P	0.49597	0.616	T	0.56251	-0.8010	10	0.66056	D	0.02	-0.0166	8.9788	0.35953	0.0:0.1568:0.0:0.8432	.	330	Q969N4	TAAR8_HUMAN	I	330	ENSP00000275200:L330I	ENSP00000275200:L330I	L	+	1	2	TAAR8	132916512	0.022000	0.18835	0.003000	0.11579	0.151000	0.21798	0.819000	0.27308	0.254000	0.21573	0.459000	0.35465	TTA	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042262.1		+	ENST00000275200.1	Missense_Mutation	SNP	6 : 132874819 - 132874819 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	410	73
DYNC1H1	1778	broad.mit.edu	37	14	102482234	102482234	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102482234G>A	ENST00000360184.4	+	36	7448	c.7284G>A	c.(7282-7284)acG>acA	p.T2428T		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2428	AAA 2 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CGTACTTCACGTCCAACGGCC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	82	89			NA	NA	14		NA											NA				102482234		2203	4300	6503	SO:0001819	synonymous_variant			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102	1778	1778		Cytoplasmic dyneins	2961	protein-coding gene	gene with protein product		600112	dynein, cytoplasmic, heavy polypeptide 1	DNECL, DNCL, DNCH1	NA	16260502, 8666668	Standard	NM_001376	NM_001376	NA	Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.7284G>A	14.37:g.102482234G>A		NA	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	37	CCDS9966.1																																																																																			DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414574.1		+	ENST00000360184.4	Silent	SNP	14 : 102482234 - 102482234 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	280	59
THAP3	90326	broad.mit.edu	37	1	6693075	6693075	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6693075C>A	ENST00000054650.4	+	6	816	c.658C>A	c.(658-660)Ctc>Atc	p.L220I	THAP3_ENST00000307896.6_Missense_Mutation_p.L219I|THAP3_ENST00000377627.3_Intron	NM_001195753.1	NP_001182682.1	Q8WTV1	THAP3_HUMAN	THAP domain containing, apoptosis associated protein 3	220							DNA binding|metal ion binding			breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GTCCAGCCGCCTCCGTGCTTG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	21	20			NA	NA	1		NA											NA				6693075		876	1991	2867	SO:0001583	missense			BC022081	CCDS86.1, CCDS55572.1, CCDS55573.1	1p36.1	2013-01-25			ENSG00000041988	ENSG00000041988	90326	90326		THAP (C2CH-type zinc finger) domain containing	20855	protein-coding gene	gene with protein product		612532			NA	12575992	Standard	NM_138350	NM_138350	NA	Approved		uc001aod.3	Q8WTV1	OTTHUMG00000001440	ENST00000054650.4:c.658C>A	1.37:g.6693075C>A	ENSP00000054650:p.Leu220Ile	NA	Q569K1|Q5TH66|Q5TH67|Q8N8T6|Q9BSC7|Q9Y3H2|Q9Y3H3	37	CCDS55572.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329607	0.41297	.	.	ENSG00000041988	ENST00000054650;ENST00000307896	D;D	0.96554	-4.05;-4.05	4.2	3.28	0.37604	.	4.768470	0.01191	N	0.007330	D	0.96568	0.8880	M	0.66939	2.045	0.21579	N	0.999637	D;P	0.54047	0.964;0.939	P;B	0.49597	0.616;0.412	D	0.86334	0.1700	10	0.54805	T	0.06	-21.1191	7.6954	0.28592	0.0:0.8842:0.0:0.1158	.	219;220	Q8WTV1-3;Q8WTV1	.;THAP3_HUMAN	I	220;219	ENSP00000054650:L220I;ENSP00000311537:L219I	ENSP00000054650:L220I	L	+	1	0	THAP3	6615662	0.382000	0.25148	0.046000	0.18839	0.361000	0.29550	2.393000	0.44442	0.977000	0.38444	0.462000	0.41574	CTC	THAP3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000004203.1		+	ENST00000054650.4	Missense_Mutation	SNP	1 : 6693075 - 6693075 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	139	28
AK9	221264	broad.mit.edu	37	6	109815261	109815261	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109815261G>A	ENST00000424296.2	-	40	5532	c.5456C>T	c.(5455-5457)gCg>gTg	p.A1819V	RP5-919F19.5_ENST00000423747.2_RNA	NM_001145128.2	NP_001138600.2			adenylate kinase 9	NA											NA						TAAGCATCCCGCTGCATTCAT	0.368		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	6		NA											NA				109815261		2203	4300	6503	SO:0001583	missense			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			221264	221264	2.7.4.3		33814	protein-coding gene	gene with protein product		615358	chromosome 6 open reading frame 224, adenylate kinase domain containing 2, chromosome 6 open reading frame 199, adenylate kinase domain containing 1	C6orf224, AKD2, C6orf199, AKD1	NA	23416111	Standard	NM_001145128	NM_145025	NA	Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.5456C>T	6.37:g.109815261G>A	ENSP00000410186:p.Ala1819Val	NA		37	CCDS55048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.796|9.796	1.179122|1.179122	0.21787|0.21787	.|.	.|.	ENSG00000155085|ENSG00000155085	ENST00000424296|ENST00000470564	T|.	0.58060|.	0.36|.	5.37|5.37	-1.73|-1.73	0.08081|0.08081	.|.	0.284581|.	0.38663|.	N|.	0.001618|.	T|T	0.03564|0.03564	0.0102|0.0102	N|N	0.00408|0.00408	-1.53|-1.53	0.80722|0.80722	D|D	1|1	B;B|.	0.16166|.	0.001;0.016|.	B;B|.	0.06405|.	0.001;0.002|.	T|T	0.33854|0.33854	-0.9852|-0.9852	9|5	.|.	.|.	.|.	.|.	6.3802|6.3802	0.21529|0.21529	0.6263:0.1522:0.2215:0.0|0.6263:0.1522:0.2215:0.0	.|.	204;1819|.	B7ZL24;Q5TCS8|.	.;AKD1_HUMAN|.	V|W	1819|657	ENSP00000410186:A1819V|.	.|.	A|R	-|-	2|1	0|2	AKD1|AKD1	109921954|109921954	0.877000|0.877000	0.30153|0.30153	0.969000|0.969000	0.41365|0.41365	0.872000|0.872000	0.50106|0.50106	1.605000|1.605000	0.36815|0.36815	0.005000|0.005000	0.14708|0.14708	0.650000|0.650000	0.86243|0.86243	GCG|CGG	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding			-	ENST00000424296.2	Missense_Mutation	SNP	6 : 109815261 - 109815261 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	345	45
VWA9	81556	broad.mit.edu	37	15	65892120	65892120	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65892120A>G	ENST00000569491.1	-	4	409	c.331T>C	c.(331-333)Ttg>Ctg	p.L111L	VWA9_ENST00000442903.3_Silent_p.L124L|VWA9_ENST00000420799.2_Silent_p.L103L|VWA9_ENST00000395644.4_Silent_p.L160L|VWA9_ENST00000313182.2_Silent_p.L160L|VWA9_ENST00000567744.1_Silent_p.L196L|VWA9_ENST00000431261.2_Silent_p.L81L					von Willebrand factor A domain containing 9	NA											NA						ACCTCCTCCAAATTCGCCATG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	115	122			NA	NA	15		NA											NA				65892120		2201	4299	6500	SO:0001819	synonymous_variant			AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614	81556	81556			25372	protein-coding gene	gene with protein product			chromosome 15 open reading frame 44	C15orf44	NA	11230166	Standard	NM_030800	NM_001136043	NA	Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000569491.1:c.331T>C	15.37:g.65892120A>G		NA		37																																																																																				VWA9-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000420607.2		-	ENST00000569491.1	Silent	SNP	15 : 65892120 - 65892120 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	411	70
BTD	686	broad.mit.edu	37	3	15686733	15686733	+	Missense_Mutation	SNP	T	T	C	rs149690919		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15686733T>C	ENST00000437172.1	+	6	1608	c.1376T>C	c.(1375-1377)gTg>gCg	p.V459A	BTD_ENST00000303498.5_Missense_Mutation_p.V457A|BTD_ENST00000449107.1_Missense_Mutation_p.V459A|BTD_ENST00000383778.4_Missense_Mutation_p.V437A	NM_001281724.1	NP_001268653.1	P43251	BTD_HUMAN	biotinidase	457					central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						TACATCCAAGTGTGTGCCCTG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								T	ALA/VAL	1,4405	2.1+/-5.4	0,1,2202	107	107	107		1370	2	0	3	dbSNP_134	107	0,8600		0,0,4300	no	missense	BTD	NM_000060.2	64	0,1,6502	CC,CT,TT	NA	0.0,0.0227,0.0077	benign	457/544	15686733	1,13005	2203	4300	6503	SO:0001583	missense			AF018631	CCDS2628.1, CCDS63563.1, CCDS63564.1, CCDS63565.1	3p25	2007-03-26			ENSG00000169814	ENSG00000169814	686	686	3.5.1.12		1122	protein-coding gene	gene with protein product		609019			NA	8001986	Standard	NM_000060	NM_001281723	NA	Approved		uc003cah.3	P43251	OTTHUMG00000129861	ENST00000437172.1:c.1376T>C	3.37:g.15686733T>C	ENSP00000400995:p.Val459Ala	NA	B2R865|Q96EM9	37		.	.	.	.	.	.	.	.	.	.	T	7.844	0.722630	0.15439	2.27E-4	0.0	ENSG00000169814	ENST00000449107;ENST00000303498;ENST00000437172;ENST00000383778	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	5.58	1.98	0.26296	.	0.379003	0.29417	N	0.012208	T	0.75236	0.3822	N	0.12471	0.22	0.31840	N	0.623582	B;B;B	0.15719	0.014;0.014;0.008	B;B;B	0.16289	0.015;0.015;0.015	T	0.66921	-0.5801	10	0.26408	T	0.33	-13.3839	7.5132	0.27585	0.0:0.3816:0.0:0.6184	.	459;459;457	A6NHF2;B4DLJ9;P43251	.;.;BTD_HUMAN	A	459;457;459;437	ENSP00000388212:V459A;ENSP00000306477:V457A;ENSP00000400995:V459A;ENSP00000373288:V437A	ENSP00000306477:V457A	V	+	2	0	BTD	15661737	0.856000	0.29760	0.015000	0.15790	0.532000	0.34746	1.300000	0.33436	0.420000	0.25954	0.459000	0.35465	GTG	BTD-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000342875.1		+	ENST00000437172.1	Missense_Mutation	SNP	3 : 15686733 - 15686733 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	577	117
ACAD11	84129	broad.mit.edu	37	3	132277901	132277901	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132277901C>A	ENST00000264990.6	-	20	3228	c.2257G>T	c.(2257-2259)Gca>Tca	p.A753S	ACAD11_ENST00000355458.3_Missense_Mutation_p.A649S|ACAD11_ENST00000545291.1_Missense_Mutation_p.A278S	NM_032169.4	NP_115545			acyl-CoA dehydrogenase family, member 11	NA										breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						GGTCCATCTGCTAAACGCAAA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	104	109			NA	NA	3		NA											NA				132277901		2203	4300	6503	SO:0001583	missense			BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303	84129	84129			30211	protein-coding gene	gene with protein product		614288	acyl-Coenzyme A dehydrogenase family, member 11		NA		Standard	NM_032169	NM_032169	NA	Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.2257G>T	3.37:g.132277901C>A	ENSP00000264990:p.Ala753Ser	NA		37	CCDS3074.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972384	0.74246	.	.	ENSG00000240303	ENST00000355458;ENST00000264990;ENST00000545291	D;D;D	0.96168	-3.93;-3.93;-3.93	5.39	5.39	0.77823	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	.	.	.	.	D	0.98485	0.9495	H	0.95645	3.7	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	D	0.99282	1.0896	9	0.59425	D	0.04	.	17.9556	0.89068	0.0:1.0:0.0:0.0	.	753	Q709F0	ACD11_HUMAN	S	649;753;278	ENSP00000347636:A649S;ENSP00000264990:A753S;ENSP00000446263:A278S	ENSP00000264990:A753S	A	-	1	0	ACAD11	133760591	1.000000	0.71417	0.961000	0.40146	0.087000	0.18053	6.602000	0.74141	2.537000	0.85549	0.655000	0.94253	GCA	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357279.2		-	ENST00000264990.6	Missense_Mutation	SNP	3 : 132277901 - 132277901 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	290	66
PRICKLE4	29964	broad.mit.edu	37	6	41753969	41753969	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41753969C>T	ENST00000394263.1	+	5	686	c.686C>T	c.(685-687)gCc>gTc	p.A229V	PRICKLE4_ENST00000359201.5_Missense_Mutation_p.A229V|PRICKLE4_ENST00000458694.1_Missense_Mutation_p.A229V|PRICKLE4_ENST00000394260.1_Missense_Mutation_p.A189V|PRICKLE4_ENST00000394259.1_Missense_Mutation_p.A189V			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	189						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGACGTTATGCCCTGCCTGGG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	34	33			NA	NA	6		NA											NA				41753969		2202	4300	6502	SO:0001583	missense			AF216754	CCDS34449.1	6p21.1	2010-08-05	2007-09-18	2007-09-18	ENSG00000124593	ENSG00000124593	29964	29964			16805	protein-coding gene	gene with protein product		611389	chromosome 6 open reading frame 49	C6orf49	NA	15702247	Standard	NM_013397	NM_013397	NA	Approved	OEBT, DKFZp761H221	uc011duf.1	Q2TBC4	OTTHUMG00000014685	ENST00000394263.1:c.686C>T	6.37:g.41753969C>T	ENSP00000377806:p.Ala229Val	NA	A2A3M0|A6PVU1|B3KQ15|Q5T3D4|Q9NSV1	37	CCDS34449.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825632	0.32237	.	.	ENSG00000124593	ENST00000458694;ENST00000359201;ENST00000394263;ENST00000394259;ENST00000394260	D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22	4.81	4.81	0.61882	.	0.138533	0.33477	N	0.004876	T	0.35624	0.0938	N	0.00109	-2.105	0.37209	D	0.904731	B	0.19200	0.034	B	0.26416	0.069	T	0.50742	-0.8792	10	0.11485	T	0.65	-19.1463	7.1315	0.25504	0.0:0.8176:0.0:0.1824	.	229	Q2TBC4-3	.	V	229;229;229;189;189	ENSP00000404911:A229V;ENSP00000352128:A229V;ENSP00000377806:A229V;ENSP00000377802:A189V;ENSP00000377803:A189V	ENSP00000335185:A229V	A	+	2	0	PRICKLE4	41861947	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.152000	0.64882	2.504000	0.84457	0.561000	0.74099	GCC	PRICKLE4-006	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268859.2		+	ENST00000394263.1	Missense_Mutation	SNP	6 : 41753969 - 41753969 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	56
SIX5	147912	broad.mit.edu	37	19	46271482	46271482	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46271482G>A	ENST00000317578.6	-	1	1002	c.621C>T	c.(619-621)tgC>tgT	p.C207C	AC074212.5_ENST00000559756.1_RNA|SIX5_ENST00000560168.1_Intron|AC074212.6_ENST00000590076.1_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	207						cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		GCTCCTTGAAGCAGTAGACTG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	33	34			NA	NA	19		NA											NA				46271482		2203	4300	6503	SO:0001819	synonymous_variant			L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045	147912	147912		Homeoboxes / SINE class	10891	protein-coding gene	gene with protein product		600963	sine oculis homeobox (Drosophila) homolog 5, sine oculis homeobox homolog 5 (Drosophila)	DMAHP	NA	8595416	Standard	NM_175875	NM_175875	NA	Approved		uc002pdb.3	Q8N196		ENST00000317578.6:c.621C>T	19.37:g.46271482G>A		NA		37	CCDS12673.1																																																																																			SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417341.3		-	ENST00000317578.6	Silent	SNP	19 : 46271482 - 46271482 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	129	19
C16orf70	80262	broad.mit.edu	37	16	67168323	67168323	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67168323G>A	ENST00000219139.3	+	8	802	c.614G>A	c.(613-615)cGa>cAa	p.R205Q	C16orf70_ENST00000569600.1_Missense_Mutation_p.R205Q|C16orf70_ENST00000569683.1_3'UTR	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	205										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		GATGTTCTTCGAGATGGAACT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													282	260	267			NA	NA	16		NA											NA				67168323		2200	4300	6500	SO:0001583	missense			AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149	80262	80262			29564	protein-coding gene	gene with protein product			chromosome 16 open reading frame 6	C16orf6, LIN10	NA	12477932	Standard	NM_025187	NM_025187	NA	Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.614G>A	16.37:g.67168323G>A	ENSP00000219139:p.Arg205Gln	NA	Q9HA86	37	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444686	0.63178	.	.	ENSG00000125149	ENST00000219139	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.68933	0.3055	M	0.71036	2.16	0.58432	D	0.999999	P	0.50819	0.939	P	0.47891	0.56	T	0.65191	-0.6228	9	0.24483	T	0.36	-3.9249	19.0219	0.92919	0.0:0.0:1.0:0.0	.	205	Q9BSU1	CP070_HUMAN	Q	205	.	ENSP00000219139:R205Q	R	+	2	0	C16orf70	65725824	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.695000	0.84257	2.835000	0.97688	0.650000	0.86243	CGA	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268829.2		+	ENST00000219139.3	Missense_Mutation	SNP	16 : 67168323 - 67168323 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1656	307
OR52N5	390075	broad.mit.edu	37	11	5799846	5799846	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5799846A>C	ENST00000317093.2	-	1	51	c.19T>G	c.(19-21)Tta>Gta	p.L7V	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AACCAGCATAATGAATTAAAT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	56	56			NA	NA	11		NA											NA				5799846		2111	4058	6169	SO:0001583	missense			AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009	390075	390075		GPCR / Class A : Olfactory receptors	15231	protein-coding gene	gene with protein product					NA		Standard	NM_001001922	NM_001001922	NA	Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.19T>G	11.37:g.5799846A>C	ENSP00000322866:p.Leu7Val	NA	B9EH12|Q6IFG2	37	CCDS31397.1	.	.	.	.	.	.	.	.	.	.	A	5.988	0.366239	0.11352	.	.	ENSG00000181009	ENST00000317093	T	0.00004	9.8	3.59	-1.95	0.07548	.	0.000000	0.36854	U	0.002370	T	0.00039	0.0001	N	0.08118	0	0.09310	N	1	B	0.27823	0.19	B	0.27608	0.081	T	0.14783	-1.0460	10	0.72032	D	0.01	.	4.7112	0.12873	0.5218:0.1625:0.3156:0.0	.	7	Q8NH56	O52N5_HUMAN	V	7	ENSP00000322866:L7V	ENSP00000322866:L7V	L	-	1	2	OR52N5	5756422	0.000000	0.05858	0.007000	0.13788	0.002000	0.02628	-0.010000	0.12743	-0.138000	0.11434	-0.539000	0.04255	TTA	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401141.1		-	ENST00000317093.2	Missense_Mutation	SNP	11 : 5799846 - 5799846 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	529	110
COL5A1	1289	broad.mit.edu	37	9	137630615	137630615	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137630615C>T	ENST00000371817.3	+	11	1869	c.1455C>T	c.(1453-1455)acC>acT	p.T485T		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	485	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTCCAGGAACCATGGGTCCCA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	81	78			NA	NA	9		NA											NA				137630615		2203	4300	6503	SO:0001819	synonymous_variant			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635	1289	1289		Collagens	2209	protein-coding gene	gene with protein product	alpha 1 type V collagen	120215			NA	1572660	Standard	NM_000093	NM_001278074	NA	Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1455C>T	9.37:g.137630615C>T		NA	Q15094|Q5SUX4	37	CCDS6982.1																																																																																			COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054954.2		+	ENST00000371817.3	Silent	SNP	9 : 137630615 - 137630615 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	637	43
LRBA	987	broad.mit.edu	37	4	151682954	151682954	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151682954C>T	ENST00000510413.1	-	35	5910	c.5626G>A	c.(5626-5628)Gaa>Aaa	p.E1876K	LRBA_ENST00000535741.1_Missense_Mutation_p.E1876K|LRBA_ENST00000507224.1_Missense_Mutation_p.E1876K|LRBA_ENST00000357115.3_Missense_Mutation_p.E1876K	NM_001199282.2	NP_001186211.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1876						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TTGACAAGTTCGATAAAAGCA	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	55	52			NA	NA	4		NA											NA				151682954		2203	4285	6488	SO:0001583	missense			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589	987	987		WD repeat domain containing	1742	protein-coding gene	gene with protein product		606453		CDC4L	NA	1505956, 11254716	Standard		NM_006726	NA	Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000510413.1:c.5626G>A	4.37:g.151682954C>T	ENSP00000421552:p.Glu1876Lys	NA	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	37	CCDS58928.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632454	0.67015	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.63913	0.37;0.52;0.38;-0.07	5.09	5.09	0.68999	.	0.060679	0.64402	D	0.000004	T	0.81269	0.4787	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	0.979;1.0	P;D	0.83275	0.452;0.996	T	0.82938	-0.0209	10	0.49607	T	0.09	.	18.5067	0.90900	0.0:1.0:0.0:0.0	.	1876;1876	P50851;P50851-2	LRBA_HUMAN;.	K	1876	ENSP00000446299:E1876K;ENSP00000421552:E1876K;ENSP00000349629:E1876K;ENSP00000422180:E1876K	ENSP00000349629:E1876K	E	-	1	0	LRBA	151902404	1.000000	0.71417	1.000000	0.80357	0.183000	0.23260	7.128000	0.77217	2.352000	0.79861	0.655000	0.94253	GAA	LRBA-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364938.1		-	ENST00000510413.1	Missense_Mutation	SNP	4 : 151682954 - 151682954 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	509	77
ZNF292	23036	broad.mit.edu	37	6	87968327	87968327	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:87968327G>A	ENST00000369577.3	+	8	5023	c.4980G>A	c.(4978-4980)aaG>aaA	p.K1660K	ZNF292_ENST00000339907.4_Silent_p.K1655K	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1660					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TCATAGCAAAGAGTGTTGAAA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	38	38			NA	NA	6		NA											NA				87968327		1910	4121	6031	SO:0001819	synonymous_variant			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994	23036	23036		Zinc fingers, C2H2-type	18410	protein-coding gene	gene with protein product					NA	9628581	Standard	NM_015021	NM_015021	NA	Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.4980G>A	6.37:g.87968327G>A		NA	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	37	CCDS47457.1																																																																																			ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376192.2		+	ENST00000369577.3	Silent	SNP	6 : 87968327 - 87968327 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	148	26
KCNC1	3746	broad.mit.edu	37	11	17757938	17757938	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17757938G>A	ENST00000379472.3	+	1	419	c.389G>A	c.(388-390)aGc>aAc	p.S130N	KCNC1_ENST00000265969.6_Missense_Mutation_p.S130N	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	130						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CTGGACAACAGCGCCGACGAC	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	16	15			NA	NA	11		NA											NA				17757938		2187	4284	6471	SO:0001583	missense			M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159	3746	3746		Potassium channels, Voltage-gated ion channels / Potassium channels	6233	protein-coding gene	gene with protein product		176258			NA	8449507, 16382104	Standard	NM_004976	NM_004976	NA	Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.389G>A	11.37:g.17757938G>A	ENSP00000368785:p.Ser130Asn	NA		37	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.597491	0.28445	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.97016	-4.21;-4.21	5.18	4.26	0.50523	.	5.062450	0.00744	N	0.001033	D	0.90995	0.7168	N	0.03608	-0.345	0.34414	D	0.69675	B;B	0.16603	0.0;0.018	B;B	0.18263	0.001;0.021	T	0.75972	-0.3129	10	0.22706	T	0.39	.	11.7462	0.51821	0.0822:0.0:0.9178:0.0	.	130;130	Q3KNS8;P48547	.;KCNC1_HUMAN	N	130	ENSP00000265969:S130N;ENSP00000368785:S130N	ENSP00000265969:S130N	S	+	2	0	KCNC1	17714514	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.591000	0.61019	1.173000	0.42796	0.561000	0.74099	AGC	KCNC1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389389.1		+	ENST00000379472.3	Missense_Mutation	SNP	11 : 17757938 - 17757938 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	163	41
TRPC7	57113	broad.mit.edu	37	5	135692925	135692925	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:135692925C>T	ENST00000513104.1	-	2	433	c.151G>A	c.(151-153)Gct>Act	p.A51T	TRPC7_ENST00000355180.3_Missense_Mutation_p.A51T|TRPC7_ENST00000426057.2_Missense_Mutation_p.A51T	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	51					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCATACTCAGCCGAGTCCAGG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	108	104			NA	NA	5		NA											NA				135692925		2141	4264	6405	SO:0001583	missense			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018	57113	57113		Voltage-gated ion channels / Transient receptor potential cation channels	20754	protein-coding gene	gene with protein product					NA	11805119, 16382100	Standard	NM_020389	NM_020389	NA	Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.151G>A	5.37:g.135692925C>T	ENSP00000426070:p.Ala51Thr	NA	A1A4Z4	37	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.4|28.4	4.916980|4.916980	0.92249|0.92249	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193|ENST00000352189;ENST00000378459;ENST00000502753	T;T;T|.	0.72725|.	-0.68;-0.68;-0.68|.	5.2|5.2	5.2|5.2	0.72013|0.72013	Ankyrin repeat-containing domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82976|0.82976	0.5154|0.5154	M|M	0.86028|0.86028	2.79|2.79	0.46927|0.46927	D|D	0.999253|0.999253	D;D;P;P|.	0.69078|.	0.997;0.985;0.92;0.848|.	D;P;P;P|.	0.80764|.	0.994;0.882;0.764;0.742|.	D|D	0.84502|0.84502	0.0617|0.0617	10|5	0.59425|.	D|.	0.04|.	-13.5949|-13.5949	18.9316|18.9316	0.92568|0.92568	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	51;51;51;51|.	Q8IWP7;F5H5U9;Q70T25;Q9HCX4|.	.;.;.;TRPC7_HUMAN|.	T|D	51|50	ENSP00000347312:A51T;ENSP00000441628:A51T;ENSP00000426070:A51T|.	ENSP00000265193:A51T|.	A|G	-|-	1|2	0|0	TRPC7|TRPC7	135720824|135720824	1.000000|1.000000	0.71417|0.71417	0.328000|0.328000	0.25416|0.25416	0.963000|0.963000	0.63663|0.63663	7.651000|7.651000	0.83577|0.83577	2.691000|2.691000	0.91804|0.91804	0.655000|0.655000	0.94253|0.94253	GCT|GGC	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366975.1		-	ENST00000513104.1	Missense_Mutation	SNP	5 : 135692925 - 135692925 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1011	161
ACCSL	390110	broad.mit.edu	37	11	44074969	44074969	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44074969G>A	ENST00000378832.1	+	8	1018	c.962G>A	c.(961-963)cGa>cAa	p.R321Q		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	321							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						AAAAAGGTCCGAGGCCTTGTG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	102	104			NA	NA	11		NA											NA				44074969		1846	4083	5929	SO:0001583	missense				CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126	390110	390110			34391	protein-coding gene	gene with protein product					NA		Standard	NM_001031854	NM_001031854	NA	Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.962G>A	11.37:g.44074969G>A	ENSP00000368109:p.Arg321Gln	NA		37	CCDS41636.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933436	0.34096	.	.	ENSG00000205126	ENST00000378832	T	0.25749	1.78	4.45	-2.01	0.07410	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.408973	0.27677	N	0.018317	T	0.48589	0.1508	M	0.89214	3.015	0.30832	N	0.736595	D	0.67145	0.996	D	0.68039	0.955	T	0.54132	-0.8339	10	0.72032	D	0.01	-0.7774	9.967	0.41730	0.6527:0.0:0.3473:0.0	.	321	Q4AC99	1A1L2_HUMAN	Q	321	ENSP00000368109:R321Q	ENSP00000368109:R321Q	R	+	2	0	ACCSL	44031545	0.998000	0.40836	0.132000	0.22025	0.002000	0.02628	0.541000	0.23207	-0.521000	0.06426	-0.140000	0.14226	CGA	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389717.1		+	ENST00000378832.1	Missense_Mutation	SNP	11 : 44074969 - 44074969 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	55
MYO5C	55930	broad.mit.edu	37	15	52513390	52513390	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52513390G>A	ENST00000261839.7	-	30	3851	c.3690C>T	c.(3688-3690)atC>atT	p.I1230I		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1230						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CATTCAGGCGGATTTCAAGAT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	109	111			NA	NA	15		NA											NA				52513390		1829	4075	5904	SO:0001819	synonymous_variant			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833	55930	55930		Myosins / Myosin superfamily : Class V	7604	protein-coding gene	gene with protein product	myosin 5C	610022			NA	11870218	Standard	NM_018728	NM_018728	NA	Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.3690C>T	15.37:g.52513390G>A		NA		37	CCDS42036.1																																																																																			MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419562.1		-	ENST00000261839.7	Silent	SNP	15 : 52513390 - 52513390 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	377	48
CCDC104	0	broad.mit.edu	37	2	55761032	55761032	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55761032G>A	ENST00000349456.4	+	5	569	c.421G>A	c.(421-423)Gat>Aat	p.D141N	CCDC104_ENST00000490934.1_3'UTR|CCDC104_ENST00000406691.3_Missense_Mutation_p.D141N|CCDC104_ENST00000403007.3_Missense_Mutation_p.D141N|CCDC104_ENST00000407816.3_Missense_Mutation_p.D141N|CCDC104_ENST00000339012.3_Missense_Mutation_p.D166N			Q96G28	CC104_HUMAN		141										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTGCTTAACCGATGGCTCTGA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	130	131			NA	NA	2		NA											NA				55761032		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000349456.4:c.421G>A	2.37:g.55761032G>A	ENSP00000295117:p.Asp141Asn	NA	Q53SF0|Q53ST9|Q6UY34	37	CCDS1854.2	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873600	0.72180	.	.	ENSG00000163001	ENST00000339012;ENST00000406691;ENST00000349456;ENST00000407816;ENST00000403007	T;T;T;T;T	0.34859	2.03;1.35;2.03;2.12;1.34	6.16	6.16	0.99307	.	0.145792	0.64402	D	0.000009	T	0.23210	0.0561	N	0.12961	0.28	0.58432	D	0.999998	D;P	0.55172	0.97;0.535	B;B	0.37650	0.255;0.09	T	0.02860	-1.1101	10	0.26408	T	0.33	.	19.0403	0.92995	0.0:0.0:1.0:0.0	.	141;166	Q96G28;Q96G28-2	CC104_HUMAN;.	N	166;141;141;141;141	ENSP00000342699:D166N;ENSP00000385400:D141N;ENSP00000295117:D141N;ENSP00000385376:D141N;ENSP00000385972:D141N	ENSP00000342699:D166N	D	+	1	0	CCDC104	55614536	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.667000	0.54547	2.937000	0.99478	0.650000	0.86243	GAT	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319610.2		+	ENST00000349456.4	Missense_Mutation	SNP	2 : 55761032 - 55761032 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	479	93
TSPAN4	7106	broad.mit.edu	37	11	862729	862729	+	Nonsense_Mutation	SNP	C	C	A	rs144548229		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:862729C>A	ENST00000397404.1	+	4	502	c.243C>A	c.(241-243)tgC>tgA	p.C81*	TSPAN4_ENST00000525201.1_Nonsense_Mutation_p.C17*|TSPAN4_ENST00000397397.2_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000397396.1_Nonsense_Mutation_p.C17*|TSPAN4_ENST00000397406.1_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000409543.2_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000397408.1_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000397411.2_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000409531.1_Nonsense_Mutation_p.C100*|TSPAN4_ENST00000346501.4_Nonsense_Mutation_p.C81*	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	81					protein complex assembly	integral to plasma membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGAACAAGTGCCTCCTGCTCA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	48	48			NA	NA	11		NA											NA				862729		2203	4299	6502	SO:0001587	stop_gained			AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063	NA	7106		Tetraspanins	11859	protein-coding gene	gene with protein product		602644	transmembrane 4 superfamily member 7	TM4SF7	NA	9360996	Standard		XM_005253102	NA	Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.243C>A	11.37:g.862729C>A	ENSP00000380553:p.Cys81*	NA	Q6IAP6	37	CCDS7721.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803300	0.90623	.	.	ENSG00000214063	ENST00000397397;ENST00000397411;ENST00000397396;ENST00000397408;ENST00000530404;ENST00000525334;ENST00000397406;ENST00000409543;ENST00000525201;ENST00000397404;ENST00000346501;ENST00000409531;ENST00000527644	.	.	.	3.67	2.76	0.32466	.	0.314743	0.34906	N	0.003587	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9629	0.47395	0.0:0.9074:0.0:0.0926	.	.	.	.	X	81;81;17;81;81;17;81;81;17;81;81;100;81	.	ENSP00000324304:C81X	C	+	3	2	TSPAN4	852729	0.989000	0.36119	0.999000	0.59377	0.970000	0.65996	0.340000	0.19892	0.765000	0.33221	0.561000	0.74099	TGC	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257102.2		+	ENST00000397404.1	Nonsense_Mutation	SNP	11 : 862729 - 862729 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	225	42
UMODL1	89766	broad.mit.edu	37	21	43508515	43508515	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43508515C>T	ENST00000400424.2	+	5	895	c.499C>T	c.(499-501)Cct>Tct	p.P167S	UMODL1_ENST00000400427.1_Missense_Mutation_p.P167S|UMODL1_ENST00000408989.2_Missense_Mutation_p.P239S|UMODL1_ENST00000408910.2_Missense_Mutation_p.P239S	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN	uromodulin-like 1	NA						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						ACGGCCACTGCCTGTGGCTGA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)							NA				0													37	45	42			NA	NA	21		NA											NA				43508515		2099	4239	6338	SO:0001583	missense				CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398	89766	89766			12560	protein-coding gene	gene with protein product	olfactorin	613859			NA	16026467	Standard		NM_173568	NA	Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000400424.2:c.499C>T	21.37:g.43508515C>T	ENSP00000383276:p.Pro167Ser	NA	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	37	CCDS56214.1	.	.	.	.	.	.	.	.	.	.	C	0.590	-0.833284	0.02713	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910;ENST00000380462;ENST00000400417	T;T;T;T	0.71103	-0.54;-0.53;-0.54;-0.53	4.11	2.1	0.27182	.	0.338812	0.20703	N	0.087225	T	0.57489	0.2057	L	0.39633	1.23	0.19300	N	0.999975	P;B;B	0.35401	0.499;0.274;0.366	B;B;B	0.37833	0.102;0.259;0.047	T	0.42649	-0.9439	10	0.23302	T	0.38	-3.771	6.9479	0.24528	0.2053:0.6115:0.1832:0.0	.	167;239;239	Q5DID0-3;Q5DID0-2;Q5DID0	.;.;UROL1_HUMAN	S	167;167;239;239;85;85	ENSP00000383279:P167S;ENSP00000383276:P167S;ENSP00000386126:P239S;ENSP00000386147:P239S	ENSP00000369829:P85S	P	+	1	0	UMODL1	42381584	0.076000	0.21285	0.052000	0.19188	0.008000	0.06430	0.119000	0.15626	0.356000	0.24157	0.563000	0.77884	CCT	UMODL1-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195294.2		+	ENST00000400424.2	Missense_Mutation	SNP	21 : 43508515 - 43508515 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	193	42
CSNK2A3	283106	broad.mit.edu	37	11	11373731	11373731	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:11373731C>A	ENST00000528848.2	-	1	1173	c.936G>T	c.(934-936)cgG>cgT	p.R312R	GALNT18_ENST00000227756.4_Intron	NM_001256686.1	NP_001243615.1			casein kinase 2, alpha 3 polypeptide	NA											NA						TTGCAGTAAGCCGTGACTGGT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001819	synonymous_variant			X64692	CCDS59224.1	11p15.3	2013-01-18	2013-01-17	2013-01-17	ENSG00000254598	ENSG00000254598	283106	283106			2458	protein-coding gene	gene with protein product			casein kinase 2, alpha 1 polypeptide pseudogene	CSNK2A1P	NA	12102635, 1610905, 20625391	Standard	NM_001256686	NM_001256686	NA	Approved		uc001mjp.4	Q8NEV1	OTTHUMG00000165708	ENST00000528848.2:c.936G>T	11.37:g.11373731C>A		NA		37	CCDS59224.1																																																																																			CSNK2A3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385850.3		-	ENST00000528848.2	Silent	SNP	11 : 11373731 - 11373731 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	398	59
ZBTB2	57621	broad.mit.edu	37	6	151687214	151687214	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151687214G>A	ENST00000325144.4	-	3	1127	c.987C>T	c.(985-987)atC>atT	p.I329I		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		GCTGCCCATCGATGATGGGAG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	107	110			NA	NA	6		NA											NA				151687214		2203	4300	6503	SO:0001819	synonymous_variant			BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472	57621	57621		-, BTB/POZ domain containing, Zinc fingers, C2H2-type	20868	protein-coding gene	gene with protein product					NA	10819331	Standard	NM_020861	NM_020861	NA	Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.987C>T	6.37:g.151687214G>A		NA	A8K7C7|Q5SZ81|Q9P245	37	CCDS5231.1																																																																																			ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042715.1		-	ENST00000325144.4	Silent	SNP	6 : 151687214 - 151687214 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	512	89
CCDC9	26093	broad.mit.edu	37	19	47763668	47763668	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47763668G>A	ENST00000221922.6	+	4	421	c.199G>A	c.(199-201)Gca>Aca	p.A67T		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	67										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GGAGAACGTGGCAGTGGAGTC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	31	34			NA	NA	19		NA											NA				47763668		2202	4298	6500	SO:0001583	missense			AL050284	CCDS12698.1	19q13.33	2008-02-05				ENSG00000105321	26093	26093			24560	protein-coding gene	gene with protein product					NA	11230166	Standard	NM_015603	NM_015603	NA	Approved	DKFZP586M1019	uc010xym.2	Q9Y3X0		ENST00000221922.6:c.199G>A	19.37:g.47763668G>A	ENSP00000221922:p.Ala67Thr	NA		37	CCDS12698.1	.	.	.	.	.	.	.	.	.	.	g	11.86	1.764582	0.31228	.	.	ENSG00000105321	ENST00000221922;ENST00000504556	T	0.21361	2.01	3.38	3.38	0.38709	.	0.391146	0.23398	N	0.048608	T	0.16385	0.0394	L	0.45137	1.4	0.22639	N	0.998904	P	0.40731	0.728	B	0.37888	0.26	T	0.12811	-1.0533	10	0.15952	T	0.53	-5.1606	12.1213	0.53893	0.0:0.0:1.0:0.0	.	67	Q9Y3X0	CCDC9_HUMAN	T	67	ENSP00000221922:A67T	ENSP00000221922:A67T	A	+	1	0	CCDC9	52455508	0.999000	0.42202	0.737000	0.30932	0.406000	0.30931	3.854000	0.55949	1.907000	0.55213	0.486000	0.48141	GCA	CCDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466917.1		+	ENST00000221922.6	Missense_Mutation	SNP	19 : 47763668 - 47763668 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	109	23
STRIP2	57464	broad.mit.edu	37	7	129096370	129096370	+	Missense_Mutation	SNP	C	C	A	rs139485685		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:129096370C>A	ENST00000249344.2	+	9	965	c.925C>A	c.(925-927)Cag>Aag	p.Q309K	STRIP2_ENST00000435494.2_Missense_Mutation_p.Q309K	NM_020704.2	NP_065755.1			striatin interacting protein 2	NA											NA						AGACAGTATCCAGGTGGTGAA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	90	93			NA	NA	7		NA											NA				129096370		2203	4300	6503	SO:0001583	missense			AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578	57464	57464			22209	protein-coding gene	gene with protein product	FAR11 factor arrest 11 homolog B (yeast)		family with sequence similarity 40, member B	FAM40B	NA	22782902, 22298706, 18782753	Standard	NM_001134336	NM_020704	NA	Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.925C>A	7.37:g.129096370C>A	ENSP00000249344:p.Gln309Lys	NA		37	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	C	5.417	0.262103	0.10239	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	T;T	0.41400	1.0;1.0	5.8	5.8	0.92144	.	0.175585	0.50627	D	0.000112	T	0.25901	0.0631	N	0.10664	0.02	0.38957	D	0.95847	B;B	0.06786	0.001;0.001	B;B	0.11329	0.004;0.006	T	0.13899	-1.0492	10	0.13108	T	0.6	-23.293	18.6318	0.91363	0.0:1.0:0.0:0.0	.	309;309	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	K	309	ENSP00000249344:Q309K;ENSP00000392393:Q309K	ENSP00000249344:Q309K	Q	+	1	0	FAM40B	128883606	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.945000	0.49043	2.758000	0.94735	0.561000	0.74099	CAG	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349418.1		+	ENST00000249344.2	Missense_Mutation	SNP	7 : 129096370 - 129096370 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	473	78
C5orf54	0	broad.mit.edu	37	5	159821708	159821708	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159821708G>A	ENST00000408953.3	-	2	1297	c.790C>T	c.(790-792)Cct>Tct	p.P264S	C5orf54_ENST00000523213.1_Missense_Mutation_p.P264S	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN		264										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						acgatatgaggtatctctttt	0.408		NA											G	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	5e-04	NA	NA	NA	5e-04	0.9547	LOWCOV,EXOME	NA	NA	2e-04	SNP								NA				0													142	136	138			NA	NA	5		NA											NA				159821708		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000408953.3:c.790C>T	5.37:g.159821708G>A	ENSP00000386184:p.Pro264Ser	NA	D3DQJ9|Q9H5S8|Q9UH87	37	CCDS34283.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.56	2.274400	0.40194	.	.	ENSG00000221886	ENST00000408953;ENST00000523213	T;T	0.19394	2.15;2.15	2.84	2.84	0.33178	.	.	.	.	.	T	0.35278	0.0926	L	0.47190	1.495	0.31834	N	0.62442	D	0.89917	1.0	D	0.91635	0.999	T	0.25502	-1.0130	9	0.44086	T	0.13	.	9.3899	0.38367	0.0:0.0:1.0:0.0	.	264	Q8IZ13	CE054_HUMAN	S	264	ENSP00000386184:P264S;ENSP00000428831:P264S	ENSP00000386184:P264S	P	-	1	0	C5orf54	159754286	0.987000	0.35691	0.974000	0.42286	0.746000	0.42486	3.072000	0.50049	1.916000	0.55485	0.655000	0.94253	CCT	C5orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374143.1		-	ENST00000408953.3	Missense_Mutation	SNP	5 : 159821708 - 159821708 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	702	134
HCFC1	3054	broad.mit.edu	37	X	153223480	153223480	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153223480G>A	ENST00000369984.4	-	11	2367	c.2024C>T	c.(2023-2025)gCt>gTt	p.A675V	HCFC1_ENST00000310441.7_Missense_Mutation_p.A675V|HCFC1_ENST00000354233.3_Missense_Mutation_p.A606V			P51610	HCFC1_HUMAN	host cell factor C1	675	Interaction with SIN3A.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACTCACCAGAGCACTGCCTCC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	37	37			NA	NA	X		NA											NA				153223480		2086	4193	6279	SO:0001583	missense				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534	3054	3054			4839	protein-coding gene	gene with protein product	VP16-accessory protein, protein phosphatase 1, regulatory subunit 89	300019	mental retardation, X-linked 3, host cell factor C1 (VP16-accessory protein)	HFC1, MRX3	NA	8392914, 23000143	Standard	NM_005334	XM_005274664	NA	Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000369984.4:c.2024C>T	X.37:g.153223480G>A	ENSP00000359001:p.Ala675Val	NA	Q6P4G5	37		.	.	.	.	.	.	.	.	.	.	G	25.4	4.635243	0.87760	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.03242	4.02;4.0;4.0	5.43	5.43	0.79202	.	0.062535	0.64402	D	0.000003	T	0.03390	0.0098	N	0.19112	0.55	0.37493	D	0.916457	B	0.34103	0.437	B	0.30401	0.115	T	0.59220	-0.7495	10	0.23891	T	0.37	.	16.9627	0.86277	0.0:0.0:1.0:0.0	.	675	P51610	HCFC1_HUMAN	V	675;675;606	ENSP00000309555:A675V;ENSP00000359001:A675V;ENSP00000346174:A606V	ENSP00000309555:A675V	A	-	2	0	HCFC1	152876674	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	9.272000	0.95707	2.268000	0.75426	0.544000	0.68410	GCT	HCFC1-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000061101.3		-	ENST00000369984.4	Missense_Mutation	SNP	X : 153223480 - 153223480 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	170	45
TRPM4	54795	broad.mit.edu	37	19	49675021	49675021	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49675021G>T	ENST00000252826.5	+	8	1171	c.1045G>T	c.(1045-1047)Gcc>Tcc	p.A349S	TRPM4_ENST00000427978.2_Missense_Mutation_p.A349S|TRPM4_ENST00000601347.1_3'UTR|TRPM4_ENST00000355712.5_Missense_Mutation_p.A66S	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	349					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGTCCTGCAGGCCCAGGTATG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	22	21			NA	NA	19		NA											NA				49675021		2203	4299	6502	SO:0001583	missense			AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529	54795	54795		Voltage-gated ion channels / Transient receptor potential cation channels	17993	protein-coding gene	gene with protein product		606936			NA	11535825, 16382100	Standard	NM_017636	NM_017636	NA	Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.1045G>T	19.37:g.49675021G>T	ENSP00000252826:p.Ala349Ser	NA	A2RU25|Q7Z5D9|Q96L84|Q9NXV1	37	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331366	0.60853	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.35605	1.3;1.3;1.75	5.05	5.05	0.67936	.	0.161181	0.41823	D	0.000807	T	0.51312	0.1667	L	0.51422	1.61	0.23991	N	0.996245	B;D;D;B	0.76494	0.01;0.999;0.99;0.304	B;D;P;B	0.80764	0.029;0.994;0.829;0.105	T	0.40997	-0.9533	10	0.23891	T	0.37	-25.9946	14.2646	0.66107	0.0:0.0:1.0:0.0	.	66;175;349;349	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	S	349;349;66	ENSP00000252826:A349S;ENSP00000407492:A349S;ENSP00000347944:A66S	ENSP00000252826:A349S	A	+	1	0	TRPM4	54366833	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.828000	0.62730	2.529000	0.85273	0.591000	0.81541	GCC	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465543.2		+	ENST00000252826.5	Missense_Mutation	SNP	19 : 49675021 - 49675021 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	180	35
ELAC2	60528	broad.mit.edu	37	17	12903496	12903496	+	Missense_Mutation	SNP	G	G	A	rs140657898		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:12903496G>A	ENST00000338034.4	-	15	1639	c.1400C>T	c.(1399-1401)gCg>gTg	p.A467V	ELAC2_ENST00000395962.2_Missense_Mutation_p.A448V|ELAC2_ENST00000426905.3_Missense_Mutation_p.A427V	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	467					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GCCGTCCTGCGCACTCCTCCT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	51	52			NA	NA	17		NA											NA				12903496		2203	4300	6503	SO:0001583	missense			AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	60528	60528	3.1.26.11		14198	protein-coding gene	gene with protein product	tRNase Z (long form)	605367	elaC (E. coli) homolog 2, elaC homolog 2 (E. coli)		NA	10986046, 16636667, 21559454	Standard		NM_018127	NA	Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.1400C>T	17.37:g.12903496G>A	ENSP00000337445:p.Ala467Val	NA	Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	37	CCDS11164.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.537678	0.27475	.	.	ENSG00000006744	ENST00000426905;ENST00000338034;ENST00000395962;ENST00000457438	T;T;T	0.64618	0.29;-0.11;-0.11	5.0	-2.19	0.07015	.	1.307490	0.04695	N	0.414906	T	0.36908	0.0984	N	0.05230	-0.09	0.09310	N	1	B;B;B;B;B;B;B;B	0.10296	0.003;0.0;0.001;0.002;0.003;0.002;0.001;0.002	B;B;B;B;B;B;B;B	0.06405	0.001;0.001;0.002;0.002;0.001;0.0;0.001;0.002	T	0.25916	-1.0118	10	0.09084	T	0.74	-0.8698	9.9441	0.41598	0.4499:0.0:0.5501:0.0	.	427;450;448;265;467;227;452;95	B4DPL9;E9PGJ0;G5E9D5;E7ES68;Q9BQ52;B3KSU9;B4DT15;Q9BQ52-3	.;.;.;.;RNZ2_HUMAN;.;.;.	V	427;467;448;145	ENSP00000405223:A427V;ENSP00000337445:A467V;ENSP00000379291:A448V	ENSP00000337445:A467V	A	-	2	0	ELAC2	12844221	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.146000	0.03191	-0.586000	0.05898	-0.142000	0.14014	GCG	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000129934.5		-	ENST00000338034.4	Missense_Mutation	SNP	17 : 12903496 - 12903496 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	42
FNDC8	54752	broad.mit.edu	37	17	33454299	33454299	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33454299A>G	ENST00000158009.5	+	2	563	c.448A>G	c.(448-450)Aca>Gca	p.T150A		NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	150										breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		CCAGATGGCCACAAGGGGCCT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	113	111			NA	NA	17		NA											NA				33454299		2203	4300	6503	SO:0001583	missense			BC024002	CCDS11290.1	17q12	2013-02-11			ENSG00000073598	ENSG00000073598	54752	54752		Fibronectin type III domain containing	25286	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_017559	XM_005257993	NA	Approved	DKFZp434H2215	uc002hix.3	Q8TC99	OTTHUMG00000132932	ENST00000158009.5:c.448A>G	17.37:g.33454299A>G	ENSP00000158009:p.Thr150Ala	NA	B2R9G6|Q9UFC2	37	CCDS11290.1	.	.	.	.	.	.	.	.	.	.	A	1.870	-0.460518	0.04508	.	.	ENSG00000073598	ENST00000158009	T	0.30448	1.53	4.52	1.11	0.20524	.	0.409067	0.21308	N	0.076696	T	0.15565	0.0375	N	0.19112	0.55	0.09310	N	1	B	0.21905	0.062	B	0.17098	0.017	T	0.16364	-1.0405	10	0.30078	T	0.28	-2.735	5.5119	0.16886	0.4787:0.4225:0.0:0.0988	.	150	Q8TC99	FNDC8_HUMAN	A	150	ENSP00000158009:T150A	ENSP00000158009:T150A	T	+	1	0	FNDC8	30478412	0.000000	0.05858	0.012000	0.15200	0.002000	0.02628	0.113000	0.15499	0.256000	0.21614	-0.213000	0.12676	ACA	FNDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256459.2		+	ENST00000158009.5	Missense_Mutation	SNP	17 : 33454299 - 33454299 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	937	170
PPP1R16B	26051	broad.mit.edu	37	20	37546928	37546928	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:37546928C>T	ENST00000299824.1	+	11	1512	c.1323C>T	c.(1321-1323)aaC>aaT	p.N441N	PPP1R16B_ENST00000373331.2_Silent_p.N399N	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	441					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CGCTGGCCAACGGGGATGTCT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	149	151			NA	NA	20		NA											NA				37546928		2203	4300	6503	SO:0001819	synonymous_variant			AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445	26051	26051		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Ankyrin repeat domain containing	15850	protein-coding gene	gene with protein product	TGF-beta-inhibited membrane-associated protein, ankyrin repeat domain protein 4	613275	protein phosphatase 1, regulatory (inhibitor) subunit 16B		NA	10048485, 12055102	Standard	NM_015568	NM_001172735	NA	Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1323C>T	20.37:g.37546928C>T		NA	A2RRR6|O94912|Q9NQG4	37	CCDS13309.1	.	.	.	.	.	.	.	.	.	.	C	6.996	0.553955	0.13374	.	.	ENSG00000101445	ENST00000438192	.	.	.	5.3	-2.26	0.06867	.	.	.	.	.	T	0.63082	0.2481	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61471	-0.7056	4	.	.	.	.	12.7867	0.57510	0.0:0.5801:0.0:0.4199	.	.	.	.	M	342	.	.	T	+	2	0	PPP1R16B	36980342	0.131000	0.22433	0.990000	0.47175	0.795000	0.44927	-0.901000	0.04093	-0.251000	0.09542	-0.940000	0.02684	ACG	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079220.2		+	ENST00000299824.1	Silent	SNP	20 : 37546928 - 37546928 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1131	183
UTS2B	257313	broad.mit.edu	37	3	190993101	190993101	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:190993101T>C	ENST00000340524.5	-	8	1060	c.274A>G	c.(274-276)Aag>Gag	p.K92E	UTS2B_ENST00000427544.2_Missense_Mutation_p.K92E	NM_198152.3	NP_937795.2			urotensin 2B	NA											NA						TCAGAATCCTTCTCCTCCACT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	172	173			NA	NA	3		NA											NA				190993101		2203	4300	6503	SO:0001583	missense			AB116021	CCDS3300.1	3q28	2013-02-28	2013-02-28	2013-02-28	ENSG00000188958	ENSG00000188958	257313	257313		Endogenous ligands	30894	protein-coding gene	gene with protein product	prepro-URP		urotensin 2 domain containing	UTS2D	NA	14550283	Standard	NM_198152	NM_198152	NA	Approved	URP, U2B	uc003fsu.3	Q765I0	OTTHUMG00000156192	ENST00000340524.5:c.274A>G	3.37:g.190993101T>C	ENSP00000340526:p.Lys92Glu	NA		37	CCDS3300.1	.	.	.	.	.	.	.	.	.	.	T	3.436	-0.115118	0.06881	.	.	ENSG00000188958	ENST00000340524;ENST00000427544	T;T	0.46451	0.87;0.87	4.62	4.62	0.57501	.	0.264466	0.26362	N	0.024819	T	0.36496	0.0969	L	0.49350	1.555	0.09310	N	1	P	0.40970	0.734	B	0.40329	0.326	T	0.21042	-1.0257	10	0.25106	T	0.35	-10.4503	10.3543	0.43954	0.0:0.0:0.0:1.0	.	92	Q765I0	UTS2B_HUMAN	E	92	ENSP00000340526:K92E;ENSP00000398761:K92E	ENSP00000340526:K92E	K	-	1	0	UTS2D	192475795	0.024000	0.19004	0.007000	0.13788	0.109000	0.19521	1.901000	0.39838	1.935000	0.56089	0.383000	0.25322	AAG	UTS2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343353.1		-	ENST00000340524.5	Missense_Mutation	SNP	3 : 190993101 - 190993101 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	555	140
PNISR	25957	broad.mit.edu	37	6	99853950	99853950	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99853950T>C	ENST00000369239.5	-	8	1163	c.959A>G	c.(958-960)cAc>cGc	p.H320R	PNISR_ENST00000438806.1_Missense_Mutation_p.H320R	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	320						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						AGGGTCACTGTGCTCTTCTTG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													216	191	199			NA	NA	6		NA											NA				99853950		2203	4300	6503	SO:0001583	missense			AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424	25957	25957			21222	protein-coding gene	gene with protein product			chromosome 6 open reading frame 111, splicing factor, arginine/serine-rich 18	C6orf111, SFRS18	NA	14578391	Standard	NM_032870	NM_032870	NA	Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.959A>G	6.37:g.99853950T>C	ENSP00000358242:p.His320Arg	NA	A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	37	CCDS5043.1	.	.	.	.	.	.	.	.	.	.	T	10.63	1.404489	0.25378	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	T;T	0.40756	1.02;1.02	5.68	5.68	0.88126	.	0.308382	0.30492	N	0.009513	T	0.11965	0.0291	N	0.08118	0	0.39400	D	0.966574	B	0.06786	0.001	B	0.08055	0.003	T	0.10823	-1.0613	10	0.17369	T	0.5	.	16.2269	0.82300	0.0:0.0:0.0:1.0	.	320	Q8TF01	PNISR_HUMAN	R	320	ENSP00000358242:H320R;ENSP00000387997:H320R	ENSP00000358242:H320R	H	-	2	0	PNISR	99960671	1.000000	0.71417	0.453000	0.27007	0.266000	0.26442	5.595000	0.67563	2.296000	0.77279	0.482000	0.46254	CAC	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041598.1		-	ENST00000369239.5	Missense_Mutation	SNP	6 : 99853950 - 99853950 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	373	50
BOD1L1	259282	broad.mit.edu	37	4	13597566	13597566	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13597566A>C	ENST00000040738.5	-	12	8157	c.8022T>G	c.(8020-8022)gcT>gcG	p.A2674A		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	2674							DNA binding				NA						AAGGCACATAAGCCTAAAAAA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	130	128			NA	NA	4		NA											NA				13597566		2203	4300	6503	SO:0001819	synonymous_variant			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219	259282	259282			31792	protein-coding gene	gene with protein product			family with sequence similarity 44, member A, biorientation of chromosomes in cell division 1-like	FAM44A, BOD1L	NA		Standard	NM_148894	XM_005248150	NA	Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.8022T>G	4.37:g.13597566A>C		NA	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	37	CCDS3411.2																																																																																			BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207321.1		-	ENST00000040738.5	Silent	SNP	4 : 13597566 - 13597566 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	695	62
BTG3	10950	broad.mit.edu	37	21	18981409	18981409	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:18981409T>C	ENST00000339775.6	-	2	207	c.54A>G	c.(52-54)aaA>aaG	p.K18K	BTG3_ENST00000464058.1_5'UTR|BTG3_ENST00000348354.6_Silent_p.K18K	NM_001130914.1	NP_001124386.1	Q14201	BTG3_HUMAN	BTG family, member 3	18					negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		ACTTATCATGTTTTCGAACTA	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	91	91			NA	NA	21		NA											NA				18981409		2203	4299	6502	SO:0001819	synonymous_variant			D64110	CCDS13569.1, CCDS46636.1	21q21.1	2006-12-16			ENSG00000154640	ENSG00000154640	10950	10950			1132	protein-coding gene	gene with protein product		605674			NA	9632145	Standard	NM_006806	NM_006806	NA	Approved	ANA, tob55	uc002ykk.3	Q14201	OTTHUMG00000074501	ENST00000339775.6:c.54A>G	21.37:g.18981409T>C		NA	D3DSC4|Q53XV1|Q96ET7	37	CCDS46636.1																																																																																			BTG3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000158195.1		-	ENST00000339775.6	Silent	SNP	21 : 18981409 - 18981409 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	461	82
FAT2	2196	broad.mit.edu	37	5	150934003	150934003	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150934003C>T	ENST00000261800.5	-	4	3877	c.3865G>A	c.(3865-3867)Gag>Aag	p.E1289K		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1289	Cadherin 11.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGAAGGCCTCCTCATCGCTG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	123	130			NA	NA	5		NA											NA				150934003		2203	4300	6503	SO:0001583	missense			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570	2196	2196		Cadherins / Cadherin-related	3596	protein-coding gene	gene with protein product	cadherin-related family member 9	604269	FAT tumor suppressor (Drosophila) homolog 2, FAT tumor suppressor homolog 2 (Drosophila)		NA	9693030	Standard	NM_001447	NM_001447	NA	Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.3865G>A	5.37:g.150934003C>T	ENSP00000261800:p.Glu1289Lys	NA	O75091|Q9NSR7	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.725474	0.30593	.	.	ENSG00000086570	ENST00000261800	T	0.01705	4.68	5.46	5.46	0.80206	Cadherin (4);Cadherin-like (1);	0.339974	0.26207	N	0.025707	T	0.02267	0.0070	L	0.35341	1.055	0.37125	D	0.901	B	0.13594	0.008	B	0.19666	0.026	T	0.54768	-0.8244	10	0.10902	T	0.67	.	18.6671	0.91495	0.0:1.0:0.0:0.0	.	1289	Q9NYQ8	FAT2_HUMAN	K	1289	ENSP00000261800:E1289K	ENSP00000261800:E1289K	E	-	1	0	FAT2	150914196	0.271000	0.24162	0.935000	0.37517	0.399000	0.30720	2.378000	0.44309	2.713000	0.92767	0.655000	0.94253	GAG	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252434.1		-	ENST00000261800.5	Missense_Mutation	SNP	5 : 150934003 - 150934003 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	515	102
RASAL1	8437	broad.mit.edu	37	12	113537779	113537779	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113537779C>A	ENST00000546530.1	-	22	2661	c.2376G>T	c.(2374-2376)caG>caT	p.Q792H	RASAL1_ENST00000446861.3_Missense_Mutation_p.Q762H|RASAL1_ENST00000548055.1_Missense_Mutation_p.Q791H|RASAL1_ENST00000261729.5_Missense_Mutation_p.Q790H	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	790					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GCTCCTGCTGCTGGAACTCCT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	46	43			NA	NA	12		NA											NA				113537779		2203	4300	6503	SO:0001583	missense			AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344	8437	8437		Pleckstrin homology (PH) domain containing	9873	protein-coding gene	gene with protein product		604118			NA	9751798	Standard	NM_004658	NM_001193520	NA	Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000546530.1:c.2376G>T	12.37:g.113537779C>A	ENSP00000450244:p.Gln792His	NA	C9JFK5|Q52M03|Q96CC7	37	CCDS55889.1	.	.	.	.	.	.	.	.	.	.	c	15.57	2.873304	0.51695	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.69685	-0.42;-0.34;-0.4;-0.42	5.4	5.4	0.78164	.	0.351753	0.29486	N	0.012005	T	0.75568	0.3867	L	0.54323	1.7	0.34609	D	0.717338	D;D;D;D	0.58970	0.984;0.984;0.973;0.98	P;P;P;P	0.59056	0.851;0.851;0.713;0.804	T	0.82255	-0.0548	10	0.54805	T	0.06	.	16.1599	0.81698	0.0:1.0:0.0:0.0	.	791;792;790;762	F8VRH9;F8VQX1;O95294;O95294-2	.;.;RASL1_HUMAN;.	H	792;790;762;791	ENSP00000450244:Q792H;ENSP00000261729:Q790H;ENSP00000395920:Q762H;ENSP00000448510:Q791H	ENSP00000261729:Q790H	Q	-	3	2	RASAL1	112022162	1.000000	0.71417	0.935000	0.37517	0.058000	0.15608	3.118000	0.50414	2.543000	0.85770	0.450000	0.29827	CAG	RASAL1-008	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405528.1		-	ENST00000546530.1	Missense_Mutation	SNP	12 : 113537779 - 113537779 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	14
MORN1	79906	broad.mit.edu	37	1	2318897	2318897	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2318897C>T	ENST00000378529.3	-	4	492	c.319G>A	c.(319-321)Gga>Aga	p.G107R	MORN1_ENST00000606372.1_5'UTR|MORN1_ENST00000378531.3_Missense_Mutation_p.G107R			Q5T089	MORN1_HUMAN	MORN repeat containing 1	107										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		TCATAACATCCGCCGGCTTTG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	120	124			NA	NA	1		NA											NA				2318897		2203	4300	6503	SO:0001583	missense			AK024003	CCDS40.1, CCDS72688.1	1p36.33-p36.32	2008-02-05			ENSG00000116151	ENSG00000116151	79906	79906			25852	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024848	XM_005244798	NA	Approved	FLJ13941	uc001ajb.1	Q5T089	OTTHUMG00000001402	ENST00000378529.3:c.319G>A	1.37:g.2318897C>T	ENSP00000367790:p.Gly107Arg	NA	A6NKZ6|Q8WW30|Q9H852	37		.	.	.	.	.	.	.	.	.	.	C	17.01	3.279792	0.59758	.	.	ENSG00000116151	ENST00000378531;ENST00000378529;ENST00000378525	T;T;T	0.57107	1.0;1.0;0.42	4.58	4.58	0.56647	.	0.000000	0.53938	D	0.000059	T	0.61009	0.2313	L	0.38953	1.18	0.38970	D	0.958727	D;D;D	0.89917	0.983;1.0;1.0	P;D;D	0.91635	0.846;0.993;0.999	T	0.58211	-0.7676	10	0.21014	T	0.42	.	14.8721	0.70465	0.0:1.0:0.0:0.0	.	83;107;107	B4DRE3;Q5T089-2;Q5T089	.;.;MORN1_HUMAN	R	107;107;83	ENSP00000367792:G107R;ENSP00000367790:G107R;ENSP00000367786:G83R	ENSP00000367786:G83R	G	-	1	0	MORN1	2308757	0.554000	0.26522	0.133000	0.22050	0.493000	0.33554	4.424000	0.59868	2.073000	0.62155	0.561000	0.74099	GGA	MORN1-002	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000004056.1		-	ENST00000378529.3	Missense_Mutation	SNP	1 : 2318897 - 2318897 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	640	48
FGGY	55277	broad.mit.edu	37	1	60139717	60139717	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:60139717C>T	ENST00000371218.4	+	15	1680	c.1496C>T	c.(1495-1497)cCt>cTt	p.P499L	FGGY_ENST00000371212.1_Missense_Mutation_p.P387L|FGGY_ENST00000371210.1_Missense_Mutation_p.P176L|FGGY_ENST00000303721.7_Missense_Mutation_p.P475L	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	475					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					GCAGGCATGCCTGTGGTCCTG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													195	126	149			NA	NA	1		NA											NA				60139717		2203	4300	6503	SO:0001583	missense				CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456	55277	55277			25610	protein-coding gene	gene with protein product		611370			NA	17671248	Standard	NM_001113411	NM_018291	NA	Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000371218.4:c.1496C>T	1.37:g.60139717C>T	ENSP00000360262:p.Pro499Leu	NA	B1AK92|B1AK93|B2RDR8|D3DQ56|Q9HA63	37	CCDS44155.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707696	0.89018	.	.	ENSG00000172456	ENST00000371218;ENST00000303721;ENST00000371212;ENST00000371210	D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41	5.55	5.55	0.83447	Carbohydrate kinase, FGGY, C-terminal (1);	0.053130	0.85682	D	0.000000	D	0.96626	0.8899	H	0.96333	3.805	0.80722	D	1	D;P;D;P	0.89917	1.0;0.85;1.0;0.91	D;P;D;P	0.97110	1.0;0.599;1.0;0.737	D	0.97244	0.9893	9	.	.	.	-9.9795	19.6873	0.95984	0.0:1.0:0.0:0.0	.	499;387;475;475	Q96C11-3;B1AK94;F2Z2V1;Q96C11	.;.;.;FGGY_HUMAN	L	499;475;387;176	ENSP00000360262:P499L;ENSP00000305922:P475L;ENSP00000360256:P387L;ENSP00000360254:P176L	.	P	+	2	0	FGGY	59912305	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.929000	0.75852	2.890000	0.99128	0.585000	0.79938	CCT	FGGY-005	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000023206.2		+	ENST00000371218.4	Missense_Mutation	SNP	1 : 60139717 - 60139717 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	101	13
PCNXL4	64430	broad.mit.edu	37	14	60574429	60574429	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60574429C>T	ENST00000406854.1	+	2	627	c.73C>T	c.(73-75)Ctt>Ttt	p.L25F	PCNXL4_ENST00000391611.2_Missense_Mutation_p.L25F|PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000317623.4_Intron|PCNXL4_ENST00000404681.2_Missense_Mutation_p.L25F					pecanex-like 4 (Drosophila)	NA											NA						ACAGACTGTTCTTGGAGGCCC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	83	84			NA	NA	14		NA											NA				60574429		876	1991	2867	SO:0001583	missense			AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773	64430	64430			20349	protein-coding gene	gene with protein product			chromosome 14 open reading frame 135	C14orf135	NA		Standard	NM_022495	NM_022495	NA	Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.73C>T	14.37:g.60574429C>T	ENSP00000384801:p.Leu25Phe	NA		37		.	.	.	.	.	.	.	.	.	.	C	19.84	3.901875	0.72754	.	.	ENSG00000126773	ENST00000391611;ENST00000406854;ENST00000404681	T;T	0.36520	1.25;1.25	5.69	5.69	0.88448	.	0.063246	0.08080	U	1.000000	T	0.54565	0.1866	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39099	-0.9630	7	0.66056	D	0.02	.	14.0326	0.64624	0.0:0.928:0.0:0.072	.	.	.	.	F	25	ENSP00000384801:L25F;ENSP00000385713:L25F	ENSP00000375469:L25F	L	+	1	0	C14orf135	59644182	1.000000	0.71417	0.981000	0.43875	0.981000	0.71138	3.630000	0.54273	2.687000	0.91594	0.655000	0.94253	CTT	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000317847.1		+	ENST00000406854.1	Missense_Mutation	SNP	14 : 60574429 - 60574429 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	258	49
DOCK3	1795	broad.mit.edu	37	3	51394453	51394453	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51394453C>T	ENST00000266037.9	+	44	4587	c.4564C>T	c.(4564-4566)Cgc>Tgc	p.R1522C		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1522	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCAGGAGCTACGCTCCCTGAT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	67	67			NA	NA	3		NA											NA				51394453		2067	4207	6274	SO:0001583	missense			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538	1795	1795			2989	protein-coding gene	gene with protein product		603123	dedicator of cyto-kinesis 3		NA	9205841	Standard	NM_004947	NM_004947	NA	Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.4564C>T	3.37:g.51394453C>T	ENSP00000266037:p.Arg1522Cys	NA	O15017	37	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.429971	0.83776	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.18174	2.23	5.84	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.44498	0.1296	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.40270	-0.9572	10	0.56958	D	0.05	.	12.2217	0.54437	0.3272:0.6728:0.0:0.0	.	1522	Q8IZD9	DOCK3_HUMAN	C	1522;318	ENSP00000266037:R1522C	ENSP00000266037:R1522C	R	+	1	0	DOCK3	51369493	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.501000	0.60393	2.765000	0.95021	0.655000	0.94253	CGC	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346478.5		+	ENST00000266037.9	Missense_Mutation	SNP	3 : 51394453 - 51394453 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	221	20
MYH3	4621	broad.mit.edu	37	17	10532983	10532983	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10532983T>C	ENST00000583535.1	-	40	5814	c.5727A>G	c.(5725-5727)gaA>gaG	p.E1909E	MYH3_ENST00000226209.7_Silent_p.E1909E	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1909					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TATCCGCACGTTCCTCGGCCT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	77	80			NA	NA	17		NA											NA				10532983		2203	4300	6503	SO:0001819	synonymous_variant				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063	4621	4621		Myosins / Myosin superfamily : Class II	7573	protein-coding gene	gene with protein product	myosin, skeletal, heavy chain, embryonic 1, muscle embryonic myosin heavy chain 3	160720	myosin, heavy polypeptide 3, skeletal muscle, embryonic		NA	2726495	Standard	NM_002470	NM_002470	NA	Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.5727A>G	17.37:g.10532983T>C		NA	Q15492	37	CCDS11157.1																																																																																			MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252734.2		-	ENST00000583535.1	Silent	SNP	17 : 10532983 - 10532983 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	425	47
KIAA0368	23392	broad.mit.edu	37	9	114178627	114178627	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114178627A>G	ENST00000338205.5	-	17	1908	c.1689T>C	c.(1687-1689)tcT>tcC	p.S563S	KIAA0368_ENST00000259335.4_Silent_p.S741S					KIAA0368	NA										NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TCATTCGATGAGAAGCCTAAG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	74	75			NA	NA	9		NA											NA				114178627		1856	4105	5961	SO:0001819	synonymous_variant			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813	23392	23392			29020	protein-coding gene	gene with protein product	ECM29 homolog (S. cerevisiae)				NA	9205841, 15496406, 20682791	Standard	NM_014686	NM_001080398	NA	Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.1689T>C	9.37:g.114178627A>G		NA		37																																																																																				KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000053637.2		-	ENST00000338205.5	Silent	SNP	9 : 114178627 - 114178627 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	189	36
NLRP3	114548	broad.mit.edu	37	1	247588472	247588472	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247588472T>C	ENST00000336119.3	+	3	2473	c.1727T>C	c.(1726-1728)gTt>gCt	p.V576A	NLRP3_ENST00000391827.2_Missense_Mutation_p.V576A|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.V576A|NLRP3_ENST00000366496.2_Missense_Mutation_p.V576A|NLRP3_ENST00000366497.2_Missense_Mutation_p.V576A|NLRP3_ENST00000348069.2_Missense_Mutation_p.V576A	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	576					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TTGATTTTTGTTGTACGTTTC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	58	59			NA	NA	1		NA											NA				247588472		2203	4300	6503	SO:0001583	missense			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711	114548	114548		Nucleotide-binding domain and leucine rich repeat containing	16400	protein-coding gene	gene with protein product	Cryopyrin, nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3	606416	cold autoinflammatory syndrome 1	C1orf7, CIAS1	NA	10741953	Standard	NM_004895	NM_183395	NA	Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1727T>C	1.37:g.247588472T>C	ENSP00000337383:p.Val576Ala	NA	B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	T	10.77	1.443189	0.25987	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	3.96	3.96	0.45880	.	0.000000	0.48286	D	0.000199	T	0.77136	0.4086	L	0.52364	1.645	0.32027	N	0.599963	B;P;B;B;B	0.37141	0.125;0.584;0.178;0.094;0.057	B;B;B;B;B	0.39094	0.082;0.29;0.108;0.108;0.119	T	0.77694	-0.2492	10	0.26408	T	0.33	.	9.5208	0.39133	0.0:0.0:0.0:1.0	.	576;576;576;576;576	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	A	576	ENSP00000375704:V576A;ENSP00000355453:V576A;ENSP00000337383:V576A;ENSP00000294752:V576A;ENSP00000355452:V576A;ENSP00000375703:V576A	ENSP00000337383:V576A	V	+	2	0	NLRP3	245655095	0.856000	0.29760	0.997000	0.53966	0.875000	0.50365	2.006000	0.40874	2.024000	0.59613	0.533000	0.62120	GTT	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097740.1		+	ENST00000336119.3	Missense_Mutation	SNP	1 : 247588472 - 247588472 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	87
ABCA1	19	broad.mit.edu	37	9	107546686	107546686	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107546686G>A	ENST00000374736.3	-	50	7090	c.6696C>T	c.(6694-6696)gaC>gaT	p.D2232D		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2232					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GTAATGAGAGGTCTTTTAAGT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													219	206	210			NA	NA	9		NA											NA				107546686		2203	4300	6503	SO:0001819	synonymous_variant			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029	19	19		ATP binding cassette transporters / subfamily A	29	protein-coding gene	gene with protein product	Tangier disease	600046		ABC1, HDLDT1	NA	8088782, 10431236, 10431237, 10431238	Standard	NM_005502	NM_005502	NA	Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.6696C>T	9.37:g.107546686G>A		NA	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	37	CCDS6762.1																																																																																			ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053491.1		-	ENST00000374736.3	Silent	SNP	9 : 107546686 - 107546686 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	417	67
SMAD4	4089	broad.mit.edu	37	18	48604665	48604665	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:48604665G>A	ENST00000588745.1	+	8	1199	c.1199G>A	c.(1198-1200)cGt>cAt	p.R400H	SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000342988.3_Missense_Mutation_p.R496H|SMAD4_ENST00000398417.2_Missense_Mutation_p.R496H			Q13485	SMAD4_HUMAN	SMAD family member 4	496	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.R496H(2)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GATGACCTTCGTCGCTTATGC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				40	Whole gene deletion(36)|Substitution - Missense(2)|Unknown(2)	pancreas(26)|large_intestine(4)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|thyroid(1)|oesophagus(1)											122	105	111			NA	NA	18		NA											NA				48604665		2203	4300	6503	SO:0001583	missense			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646	4089	4089		SMADs	6770	protein-coding gene	gene with protein product		600993	MAD, mothers against decapentaplegic homolog 4 (Drosophila), SMAD, mothers against DPP homolog 4 (Drosophila)	MADH4	NA	8553070, 8774881	Standard	NM_005359	NM_005359	NA	Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000588745.1:c.1199G>A	18.37:g.48604665G>A	ENSP00000464901:p.Arg400His	NA	A8K405	37	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538817	0.85917	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	D;D	0.98862	-5.19;-5.19	5.99	5.99	0.97316	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.049689	0.85682	D	0.000000	D	0.99124	0.9698	M	0.81341	2.54	0.80722	D	1	D	0.67145	0.996	D	0.71184	0.972	D	0.99813	1.1042	10	0.72032	D	0.01	.	19.2202	0.93793	0.0:0.0:1.0:0.0	.	496	Q13485	SMAD4_HUMAN	H	496	ENSP00000341551:R496H;ENSP00000381452:R496H	ENSP00000341551:R496H	R	+	2	0	SMAD4	46858663	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.586000	0.98226	2.843000	0.97960	0.655000	0.94253	CGT	SMAD4-004	NOVEL	not_organism_supported|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449729.1		+	ENST00000588745.1	Missense_Mutation	SNP	18 : 48604665 - 48604665 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	458	110
C4orf19	55286	broad.mit.edu	37	4	37592370	37592370	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:37592370G>A	ENST00000284437.6	+	3	871	c.693G>A	c.(691-693)acG>acA	p.T231T	C4orf19_ENST00000508175.1_Intron|C4orf19_ENST00000381980.4_Silent_p.T231T	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	231										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						GTTTGAATACGCCCTTCTCTG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	1,4405	2.1+/-5.4	0,1,2202	66	65	65		693,693	-1.5	0	4		65	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	C4orf19	NM_001104629.1,NM_018302.2	,	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	,	231/315,231/315	37592370	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			BC037906	CCDS3442.1	4p14	2008-02-05			ENSG00000154274	ENSG00000154274	55286	55286			25618	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_018302	NM_001104629	NA	Approved	FLJ11017	uc003gsw.4	Q8IY42	OTTHUMG00000128580	ENST00000284437.6:c.693G>A	4.37:g.37592370G>A		NA	Q9NV03	37	CCDS3442.1																																																																																			C4orf19-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250432.1		+	ENST00000284437.6	Silent	SNP	4 : 37592370 - 37592370 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	38
SEL1L2	80343	broad.mit.edu	37	20	13868480	13868480	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13868480G>A	ENST00000284951.5	-	8	754	c.680C>T	c.(679-681)tCg>tTg	p.S227L	SEL1L2_ENST00000378072.5_Missense_Mutation_p.S227L|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	227						integral to membrane	binding	p.S227L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						ATTGATTCCCGACAAATATCT	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)						G	LEU/SER	1,3661		0,1,1830	131	127	128		680	5.7	1	20		128	0,8160		0,0,4080	no	missense	SEL1L2	NM_025229.1	145	0,1,5910	AA,AG,GG	NA	0.0,0.0273,0.0085	possibly-damaging	227/689	13868480	1,11821	1831	4080	5911	SO:0001583	missense			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251	80343	80343			15897	protein-coding gene	gene with protein product		614289	chromosome 20 open reading frame 50	C20orf50	NA		Standard	NM_025229	NM_001271539	NA	Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.680C>T	20.37:g.13868480G>A	ENSP00000284951:p.Ser227Leu	NA		37		.	.	.	.	.	.	.	.	.	.	G	14.60	2.583741	0.46006	2.73E-4	0.0	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.51817	0.69;0.69	5.69	5.69	0.88448	Tetratricopeptide-like helical (1);	0.133415	0.34853	N	0.003627	T	0.48333	0.1494	M	0.64080	1.96	0.37370	D	0.911584	B;D	0.57571	0.323;0.98	B;P	0.46110	0.095;0.504	T	0.50516	-0.8819	10	0.12103	T	0.63	-9.039	15.3235	0.74141	0.0:0.0:1.0:0.0	.	227;227	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	L	227	ENSP00000367312:S227L;ENSP00000284951:S227L	ENSP00000284951:S227L	S	-	2	0	SEL1L2	13816480	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.574000	0.53863	2.674000	0.91012	0.650000	0.86243	TCG	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000078067.3		-	ENST00000284951.5	Missense_Mutation	SNP	20 : 13868480 - 13868480 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	593	99
TRAPPC10	7109	broad.mit.edu	37	21	45483547	45483547	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45483547C>T	ENST00000291574.4	+	7	1094	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	307					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	p.R307C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GTTAGATCTGCGCAGTTACCT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	central_nervous_system(1)											127	117	121			NA	NA	21		NA											NA				45483547		2203	4300	6503	SO:0001583	missense			U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218	7109	7109		Trafficking protein particle complex	11868	protein-coding gene	gene with protein product	trafficking protein particle complex subunit 130, TRAPP 130 kDa subunit	602103	transmembrane protein 1	TMEM1	NA	7633421	Standard	NM_003274	NM_003274	NA	Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.919C>T	21.37:g.45483547C>T	ENSP00000291574:p.Arg307Cys	NA	Q3MIR2|Q9UMD4|Q9Y4L3	37	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559292	0.86335	.	.	ENSG00000160218	ENST00000291574	T	0.49432	0.78	5.74	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.73329	0.3573	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79771	-0.1663	10	0.87932	D	0	.	14.9421	0.71003	0.0:0.9309:0.0:0.0691	.	307	P48553	TPC10_HUMAN	C	307	ENSP00000291574:R307C	ENSP00000291574:R307C	R	+	1	0	TRAPPC10	44307975	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.640000	0.67875	1.422000	0.47177	0.655000	0.94253	CGC	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195737.1		+	ENST00000291574.4	Missense_Mutation	SNP	21 : 45483547 - 45483547 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	512	97
STX7	8417	broad.mit.edu	37	6	132785210	132785210	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132785210G>A	ENST00000367941.2	-	9	728	c.615C>T	c.(613-615)agC>agT	p.S205S	STX7_ENST00000367937.4_Silent_p.S205S	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7	205	t-SNARE coiled-coil homology.				intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		TGGCTTCTATGCTATCTGTAA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	117	123			NA	NA	6		NA											NA				132785210		2203	4300	6503	SO:0001819	synonymous_variant			U77942	CCDS5153.1	6q23.1	2008-02-05			ENSG00000079950	ENSG00000079950	8417	8417			11442	protein-coding gene	gene with protein product		603217			NA	9358037	Standard		NM_003569	NA	Approved		uc003qdg.2	O15400	OTTHUMG00000015577	ENST00000367941.2:c.615C>T	6.37:g.132785210G>A		NA	E1P579|Q5SZW2|Q96ES9	37	CCDS5153.1																																																																																			STX7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042252.2		-	ENST00000367941.2	Silent	SNP	6 : 132785210 - 132785210 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	612	95
ATP13A4	84239	broad.mit.edu	37	3	193166086	193166086	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193166086C>T	ENST00000342695.4	-	18	2383	c.2061G>A	c.(2059-2061)ggG>ggA	p.G687G	ATP13A4_ENST00000392443.3_Silent_p.G668G	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	687					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AGATCAGCAGCCCCAGAAATA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	112	114			NA	NA	3		NA											NA				193166086		2203	4300	6503	SO:0001819	synonymous_variant			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249	84239	84239		ATPases / P-type	25422	protein-coding gene	gene with protein product		609556			NA	14702039, 12975309	Standard	NM_032279	XM_005247829	NA	Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2061G>A	3.37:g.193166086C>T		NA	B7WPC7|Q6UY23|Q8N1Q9|Q9H043	37	CCDS3304.2																																																																																			ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157244.4		-	ENST00000342695.4	Silent	SNP	3 : 193166086 - 193166086 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	503	80
METTL17	64745	broad.mit.edu	37	14	21465009	21465009	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21465009C>T	ENST00000339374.6	+	14	1564	c.1331C>T	c.(1330-1332)gCg>gTg	p.A444V	RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000556670.2_Missense_Mutation_p.A435V|METTL17_ENST00000382985.4_Silent_p.C468C	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	444					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						ACTCCGTCTGCGTTTCCTCCA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	124	132			NA	NA	14		NA											NA				21465009		2203	4300	6503	SO:0001583	missense			AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792	64745	64745			19280	protein-coding gene	gene with protein product			methyltransferase 11 domain containing 1	METT11D1	NA	11278769	Standard	NM_022734	XM_006720235	NA	Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.1331C>T	14.37:g.21465009C>T	ENSP00000343041:p.Ala444Val	NA	Q9BSH1|Q9BZH2|Q9BZH3	37	CCDS9562.1	.	.	.	.	.	.	.	.	.	.	C	9.982	1.228328	0.22542	.	.	ENSG00000165792	ENST00000339374	T	0.30981	1.51	5.1	1.23	0.21249	.	.	.	.	.	T	0.16557	0.0398	.	.	.	0.09310	N	1	B;B	0.27700	0.185;0.186	B;B	0.20767	0.014;0.031	T	0.21109	-1.0255	8	0.29301	T	0.29	.	5.2717	0.15628	0.5231:0.3791:0.0978:0.0	.	444;435	Q9H7H0;Q9H7H0-2	MET17_HUMAN;.	V	444	ENSP00000343041:A444V	ENSP00000343041:A444V	A	+	2	0	METTL17	20534849	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.574000	0.23714	0.298000	0.22638	-0.262000	0.10625	GCG	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000073804.4		+	ENST00000339374.6	Missense_Mutation	SNP	14 : 21465009 - 21465009 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	444	16
CHRM5	1133	broad.mit.edu	37	15	34355142	34355142	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34355142C>T	ENST00000383263.5	+	3	894	c.224C>T	c.(223-225)gCa>gTa	p.A75V	CHRM5_ENST00000557872.1_Missense_Mutation_p.A75V	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	75					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	TTAGCCTGTGCAGATCTCATC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	113	123			NA	NA	15		NA											NA				34355142		2201	4298	6499	SO:0001583	missense				CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984	NA	1133		Cholinergic receptors, GPCR / Class A : Cholinergic receptors, muscarinic	1954	protein-coding gene	gene with protein product	acetylcholine receptor, muscarinic 5	118496			NA		Standard		NM_012125	NA	Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.224C>T	15.37:g.34355142C>T	ENSP00000372750:p.Ala75Val	NA	Q96RG7	37	CCDS10031.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864736	0.91511	.	.	ENSG00000184984	ENST00000383263	T	0.79454	-1.27	5.64	5.64	0.86602	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.90518	0.7029	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91248	0.5027	10	0.87932	D	0	-11.1248	19.8946	0.96949	0.0:1.0:0.0:0.0	.	75	P08912	ACM5_HUMAN	V	75	ENSP00000372750:A75V	ENSP00000372750:A75V	A	+	2	0	CHRM5	32142434	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.937000	0.99478	0.650000	0.86243	GCA	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251521.2		+	ENST00000383263.5	Missense_Mutation	SNP	15 : 34355142 - 34355142 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	255	41
FAM160B1	57700	broad.mit.edu	37	10	116595962	116595962	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116595962C>T	ENST00000369248.4	+	5	814	c.479C>T	c.(478-480)gCg>gTg	p.A160V	FAM160B1_ENST00000369250.3_Missense_Mutation_p.A160V	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	160										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						ATTGTGTGTGCGAAGCTGAAA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													196	209	205			NA	NA	10		NA											NA				116595962		2203	4300	6503	SO:0001583	missense			AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553	57700	57700			29320	protein-coding gene	gene with protein product			KIAA1600	KIAA1600	NA	10997877	Standard	XM_049351	NM_020940	NA	Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.479C>T	10.37:g.116595962C>T	ENSP00000358251:p.Ala160Val	NA	Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	37	CCDS31290.1	.	.	.	.	.	.	.	.	.	.	C	35	5.560340	0.96527	.	.	ENSG00000151553	ENST00000369248;ENST00000369250	T;T	0.29655	1.56;1.56	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.47395	0.1443	L	0.56769	1.78	0.80722	D	1	P;D	0.76494	0.709;0.999	B;P	0.60789	0.079;0.879	T	0.27739	-1.0065	10	0.13470	T	0.59	-20.6102	18.7711	0.91892	0.0:1.0:0.0:0.0	.	160;160	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	V	160	ENSP00000358251:A160V;ENSP00000358253:A160V	ENSP00000358251:A160V	A	+	2	0	FAM160B1	116585952	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.786000	0.85741	2.419000	0.82065	0.585000	0.79938	GCG	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050499.1		+	ENST00000369248.4	Missense_Mutation	SNP	10 : 116595962 - 116595962 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1404	250
EMC1	23065	broad.mit.edu	37	1	19566393	19566393	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19566393G>T	ENST00000477853.1	-	8	915	c.873C>A	c.(871-873)ttC>ttA	p.F291L	EMC1_ENST00000375208.3_Missense_Mutation_p.F269L|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Missense_Mutation_p.F291L	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1			ER membrane protein complex subunit 1	NA											NA						AGTGCAGGAAGAACTGGGCCC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	65	64			NA	NA	1		NA											NA				19566393		2203	4300	6503	SO:0001583	missense				CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463	23065	23065			28957	protein-coding gene	gene with protein product			KIAA0090	KIAA0090	NA	22119785	Standard	NM_015047	NM_015047	NA	Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.873C>A	1.37:g.19566393G>T	ENSP00000420608:p.Phe291Leu	NA		37	CCDS190.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.89|16.89	3.248245|3.248245	0.59103|0.59103	.|.	.|.	ENSG00000127463|ENSG00000127463	ENST00000477853;ENST00000375199;ENST00000375208|ENST00000375197	T;T;T|.	0.24151|.	1.9;1.9;1.87|.	5.72|5.72	4.81|4.81	0.61882|0.61882	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68430|0.68430	0.3000|0.3000	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	P;P;D;D|.	0.71674|.	0.487;0.734;0.998;0.997|.	B;B;D;D|.	0.80764|.	0.301;0.301;0.994;0.985|.	T|T	0.67114|0.67114	-0.5752|-0.5752	10|5	0.32370|.	T|.	0.25|.	.|.	13.6583|13.6583	0.62352|0.62352	0.0748:0.0:0.9252:0.0|0.0748:0.0:0.9252:0.0	.|.	269;291;291;291|.	Q8N766-4;Q8N766-2;Q8N766-3;Q8N766|.	.;.;.;K0090_HUMAN|.	L|I	291;291;269|26	ENSP00000420608:F291L;ENSP00000364345:F291L;ENSP00000364354:F269L|.	ENSP00000364345:F291L|.	F|L	-|-	3|1	2|0	KIAA0090|KIAA0090	19438980|19438980	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.317000|4.317000	0.59184|0.59184	1.413000|1.413000	0.46997|0.46997	0.655000|0.655000	0.94253|0.94253	TTC|CTT	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007076.2		-	ENST00000477853.1	Missense_Mutation	SNP	1 : 19566393 - 19566393 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	15
FBXW10	10517	broad.mit.edu	37	17	18647799	18647799	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18647799A>C	ENST00000308799.4	+	1	461	c.242A>C	c.(241-243)cAg>cCg	p.Q81P	FBXW10_ENST00000395667.1_Missense_Mutation_p.Q81P|FBXW10_ENST00000301938.4_Missense_Mutation_p.Q81P|FBXW10_ENST00000395665.4_Missense_Mutation_p.Q81P			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	81										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						CAGACCACACAGGGAAAGGAT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	87	85			NA	NA	17		NA											NA				18647799		2201	4298	6499	SO:0001583	missense			BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931	10517	10517		F-boxes / WD-40 domains, WD repeat domain containing	1211	protein-coding gene	gene with protein product		611679	chromosome 17 open reading frame 1A, F-box and WD-40 domain protein 10	C17orf1, C17orf1A	NA	9787083, 7586531	Standard	NM_031456	NM_001267585	NA	Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000308799.4:c.242A>C	17.37:g.18647799A>C	ENSP00000310382:p.Gln81Pro	NA	C9JRY8|C9JZD7|Q8TC00|Q9H0F0	37		.	.	.	.	.	.	.	.	.	.	a	4.933	0.173414	0.09391	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	3.31	0.808	0.18719	.	0.228558	0.34986	U	0.003536	T	0.36193	0.0958	L	0.56769	1.78	0.19775	N	0.999955	D;D;D;D	0.71674	0.994;0.998;0.99;0.998	D;D;D;D	0.78314	0.986;0.991;0.969;0.934	T	0.08953	-1.0697	10	0.44086	T	0.13	.	2.7706	0.05333	0.5002:0.0:0.1258:0.374	.	81;81;81;81	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	P	81	ENSP00000379026:Q81P;ENSP00000310382:Q81P;ENSP00000306937:Q81P;ENSP00000379025:Q81P	ENSP00000306937:Q81P	Q	+	2	0	FBXW10	18588524	0.930000	0.31532	0.877000	0.34402	0.921000	0.55340	1.512000	0.35812	0.372000	0.24591	0.333000	0.21579	CAG	FBXW10-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000130663.1		+	ENST00000308799.4	Missense_Mutation	SNP	17 : 18647799 - 18647799 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	573	59
NCAPD3	23310	broad.mit.edu	37	11	134076509	134076509	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134076509G>A	ENST00000534548.2	-	8	1065	c.1001C>T	c.(1000-1002)gCg>gTg	p.A334V		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	334					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AAACTGGACCGCCTGGTTTCT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	125	130			NA	NA	11		NA											NA				134076509		2201	4297	6498	SO:0001583	missense			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503	23310	23310			28952	protein-coding gene	gene with protein product		609276			NA	7584044, 8619474, 14532007	Standard	NM_015261	NM_015261	NA	Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.1001C>T	11.37:g.134076509G>A	ENSP00000433681:p.Ala334Val	NA	A6NFS2|Q4KMQ9	37	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704144	0.88924	.	.	ENSG00000151503	ENST00000534548	T	0.09163	3.01	5.67	5.67	0.87782	Armadillo-type fold (1);	0.098779	0.64402	D	0.000001	T	0.34571	0.0902	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.00569	-1.1666	10	0.48119	T	0.1	-20.4282	20.1313	0.98000	0.0:0.0:1.0:0.0	.	334	P42695	CNDD3_HUMAN	V	334	ENSP00000433681:A334V	ENSP00000431612:A334V	A	-	2	0	NCAPD3	133581719	0.999000	0.42202	0.721000	0.30653	0.749000	0.42624	5.099000	0.64554	2.837000	0.97791	0.655000	0.94253	GCG	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393575.2		-	ENST00000534548.2	Missense_Mutation	SNP	11 : 134076509 - 134076509 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	565	111
FAT3	120114	broad.mit.edu	37	11	92534289	92534289	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92534289T>G	ENST00000525166.1	+	9	7682	c.7660T>G	c.(7660-7662)Ttc>Gtc	p.F2554V	FAT3_ENST00000409404.2_Missense_Mutation_p.F2704V|FAT3_ENST00000298047.6_Missense_Mutation_p.F2704V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2704	Cadherin 23.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCTGAAACGTTCTTGCCATC	0.473		NA								TCGA Ovarian(4;0.039)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	68	70			NA	NA	11		NA											NA				92534289		1964	4151	6115	SO:0001583	missense			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323	120114	120114		Cadherins / Cadherin-related	23112	protein-coding gene	gene with protein product	cadherin-related family member 10	612483	FAT tumor suppressor homolog 3 (Drosophila)		NA	11811999	Standard	NM_001008781	NM_001008781	NA	Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000525166.1:c.7660T>G	11.37:g.92534289T>G	ENSP00000432586:p.Phe2554Val	NA	B5MDB0|Q96AU6	37		.	.	.	.	.	.	.	.	.	.	T	3.434	-0.115509	0.06881	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.60548	0.18;0.18;0.18	6.08	-2.07	0.07276	.	.	.	.	.	T	0.31009	0.0783	N	0.17474	0.49	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.16958	-1.0385	9	0.15952	T	0.53	.	3.0455	0.06152	0.1513:0.4275:0.2181:0.2031	.	2704	Q8TDW7-3	.	V	2704;2704;2554	ENSP00000298047:F2704V;ENSP00000387040:F2704V;ENSP00000432586:F2554V	ENSP00000298047:F2704V	F	+	1	0	FAT3	92173937	0.000000	0.05858	0.000000	0.03702	0.838000	0.47535	0.105000	0.15333	-0.283000	0.09115	-0.326000	0.08463	TTC	FAT3-001	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000335363.3		+	ENST00000525166.1	Missense_Mutation	SNP	11 : 92534289 - 92534289 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	236	39
PRKDC	5591	broad.mit.edu	37	8	48790367	48790367	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:48790367A>C	ENST00000523565.1	-	0	5336				PRKDC_ENST00000314191.2_Missense_Mutation_p.L1760V|PRKDC_ENST00000338368.3_Missense_Mutation_p.L1760V			P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	NA					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TCTGTCATCAATTCCAACAAC	0.368		NA						Non-homologous end-joining						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(79;1091 1253 12329 31680 40677)							NA				0													113	108	110			NA	NA	8		NA											NA				48790367		1859	4097	5956	SO:0001623	5_prime_UTR_variant				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	5591	5591	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1	NA	7638222	Standard	NM_001081640	NM_001081640	NA	Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000523565.1:c.-8172T>G	8.37:g.48790367A>C		NA	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	37		.	.	.	.	.	.	.	.	.	.	A	12.51	1.958535	0.34565	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.65549	-0.16;-0.16	5.65	3.28	0.37604	Armadillo-like helical (1);Armadillo-type fold (1);	0.082334	0.50627	D	0.000118	T	0.51312	0.1667	L	0.60455	1.87	0.48288	D	0.999628	P;B	0.35411	0.5;0.36	B;B	0.30029	0.11;0.076	T	0.40136	-0.9579	10	0.30078	T	0.28	.	8.6942	0.34284	0.7639:0.0:0.2361:0.0	.	1760;1761	E7EUY0;P78527	.;PRKDC_HUMAN	V	1760	ENSP00000313420:L1760V;ENSP00000345182:L1760V	ENSP00000313420:L1760V	L	-	1	2	PRKDC	48952920	0.086000	0.21541	0.867000	0.34043	0.885000	0.51271	0.440000	0.21592	0.435000	0.26365	0.477000	0.44152	TTG	PRKDC-002	KNOWN	basic	processed_transcript	NA	protein_coding	OTTHUMT00000377896.1		-	ENST00000523565.1	5'UTR	SNP	8 : 48790367 - 48790367 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	77
HSPA13	6782	broad.mit.edu	37	21	15747996	15747996	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:15747996A>G	ENST00000285667.3	-	4	792	c.725T>C	c.(724-726)aTg>aCg	p.M242T	HSPA13_ENST00000544452.1_Missense_Mutation_p.M34T	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	242						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GGTTAGAAACATCCCTCCTTG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	99	101			NA	NA	21		NA											NA				15747996		2203	4300	6503	SO:0001583	missense				CCDS13567.1	21q11.1	2011-09-02	2008-06-17	2008-06-17	ENSG00000155304	ENSG00000155304	6782	6782		Heat shock proteins / HSP70	11375	protein-coding gene	gene with protein product		601100	stress 70 protein chaperone, microsome-associated, 60kD, stress 70 protein chaperone, microsome-associated, 60kDa	STCH	NA	8825657	Standard		NM_006948	NA	Approved		uc002yjt.3	P48723	OTTHUMG00000074261	ENST00000285667.3:c.725T>C	21.37:g.15747996A>G	ENSP00000285667:p.Met242Thr	NA	B2R616|Q8NE40	37	CCDS13567.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.509572	0.85282	.	.	ENSG00000155304	ENST00000285667;ENST00000544452	T;T	0.00922	5.54;5.54	5.86	5.86	0.93980	.	0.102150	0.85682	D	0.000000	T	0.02418	0.0074	N	0.13198	0.31	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.71034	-0.4709	10	0.87932	D	0	-27.1554	16.2487	0.82472	1.0:0.0:0.0:0.0	.	242	P48723	HSP13_HUMAN	T	242;34	ENSP00000285667:M242T;ENSP00000441986:M34T	ENSP00000285667:M242T	M	-	2	0	HSPA13	14669867	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.390000	0.79816	2.243000	0.73865	0.523000	0.50628	ATG	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157815.1		-	ENST00000285667.3	Missense_Mutation	SNP	21 : 15747996 - 15747996 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	520	102
CYP24A1	1591	broad.mit.edu	37	20	52788203	52788203	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:52788203C>T	ENST00000216862.3	-	3	849	c.456G>A	c.(454-456)ggG>ggA	p.G152G	CYP24A1_ENST00000395955.3_Silent_p.G152G|CYP24A1_ENST00000395954.3_Silent_p.G10G	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	152					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GCCAGTCTTCCCCTTCCCTGT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	115	114			NA	NA	20		NA											NA				52788203		2203	4300	6503	SO:0001819	synonymous_variant			U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186	NA	1591		Cytochrome P450s	2602	protein-coding gene	gene with protein product		126065	cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)	CYP24	NA		Standard		NM_000782	NA	Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.456G>A	20.37:g.52788203C>T		NA	Q15807	37	CCDS33491.1																																																																																			CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079769.2		-	ENST00000216862.3	Silent	SNP	20 : 52788203 - 52788203 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	749	123
ANKRD52	283373	broad.mit.edu	37	12	56639194	56639194	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56639194C>T	ENST00000267116.7	-	21	2492	c.2371G>A	c.(2371-2373)Gga>Aga	p.G791R		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	791							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GGCGAGTATCCGCTGTAATCC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	26	25			NA	NA	12		NA											NA				56639194		2061	4198	6259	SO:0001583	missense			AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645	283373	283373		Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits, Ankyrin repeat domain containing	26614	protein-coding gene	gene with protein product	protein phosphatase 6 ankyrin repeat subunit C				NA		Standard	NM_173595	NM_173595	NA	Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.2371G>A	12.37:g.56639194C>T	ENSP00000267116:p.Gly791Arg	NA	A6NE79|B1Q2K2	37	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230425	0.79688	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.27890	1.64	4.07	4.07	0.47477	Ankyrin repeat-containing domain (4);	0.330506	0.28182	N	0.016299	T	0.54078	0.1836	M	0.72118	2.19	0.58432	D	0.999992	D	0.71674	0.998	D	0.72625	0.978	T	0.60449	-0.7261	10	0.87932	D	0	.	15.5589	0.76223	0.0:1.0:0.0:0.0	.	791	Q8NB46	ANR52_HUMAN	R	791	ENSP00000267116:G791R	ENSP00000267116:G791R	G	-	1	0	ANKRD52	54925461	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.022000	0.70839	2.291000	0.77112	0.491000	0.48974	GGA	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408539.1		-	ENST00000267116.7	Missense_Mutation	SNP	12 : 56639194 - 56639194 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	154	36
GORASP2	26003	broad.mit.edu	37	2	171804913	171804913	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171804913T>G	ENST00000234160.4	+	2	932	c.117T>G	c.(115-117)ttT>ttG	p.F39L	GORASP2_ENST00000493692.1_3'UTR|GORASP2_ENST00000452526.2_Missense_Mutation_p.F51L	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	39	PDZ.					Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						TCTTTGATTTTATTGTTTCTA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	114	112			NA	NA	2		NA											NA				171804913		2203	4300	6503	SO:0001583	missense				CCDS33325.1	2q31.1	2012-09-20	2002-08-29		ENSG00000115806	ENSG00000115806	26003	26003			17500	protein-coding gene	gene with protein product		608693	golgi reassembly stacking protein 2, 55 kDa		NA	10487747	Standard		NM_015530	NA	Approved	GRASP55, GRS2, GOLPH6	uc002ugj.3	Q9H8Y8	OTTHUMG00000154072	ENST00000234160.4:c.117T>G	2.37:g.171804913T>G	ENSP00000234160:p.Phe39Leu	NA	Q53TE3|Q96I74|Q96K84|Q9H946|Q9UFW4	37	CCDS33325.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.583517	0.86748	.	.	ENSG00000115806	ENST00000234160;ENST00000452526	T;T	0.27402	1.67;1.67	5.73	5.73	0.89815	PDZ/DHR/GLGF (2);	0.000000	0.85682	D	0.000000	T	0.61311	0.2337	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.67421	-0.5675	10	0.72032	D	0.01	-19.5199	16.3265	0.82983	0.0:0.0:0.0:1.0	.	51;39	B4DKT0;Q9H8Y8	.;GORS2_HUMAN	L	39;51	ENSP00000234160:F39L;ENSP00000410208:F51L	ENSP00000234160:F39L	F	+	3	2	GORASP2	171513159	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.518000	0.35877	2.313000	0.78055	0.455000	0.32223	TTT	GORASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333719.2		+	ENST00000234160.4	Missense_Mutation	SNP	2 : 171804913 - 171804913 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	44
SYNPO2	171024	broad.mit.edu	37	4	119978917	119978917	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119978917A>G	ENST00000307142.4	+	5	3810	c.3614A>G	c.(3613-3615)aAt>aGt	p.N1205S	SYNPO2_ENST00000448416.2_3'UTR	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	0						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACAGCCAATAATAATATGTCC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	84	86			NA	NA	4		NA											NA				119978917		2203	4300	6503	SO:0001583	missense			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403	171024	171024			17732	protein-coding gene	gene with protein product					NA	11673475, 17828378	Standard		NM_133477	NA	Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000307142.4:c.3614A>G	4.37:g.119978917A>G	ENSP00000306015:p.Asn1205Ser	NA	B2RWP6|B2Y8J9|Q9UK89	37	CCDS34054.1	.	.	.	.	.	.	.	.	.	.	a	0.007	-1.961529	0.00465	.	.	ENSG00000172403	ENST00000307142	T	0.06687	3.27	5.76	-7.26	0.01466	.	1.365610	0.05007	N	0.470170	T	0.04182	0.0116	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.43589	-0.9382	9	.	.	.	-1.0E-4	13.3281	0.60471	0.2603:0.0:0.6428:0.0969	.	1205;1205	B9EG60;Q9UMS6-2	.;.	S	1205	ENSP00000306015:N1205S	.	N	+	2	0	SYNPO2	120198365	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.320000	0.19540	-1.144000	0.02862	-0.256000	0.11100	AAT	SYNPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364018.1		+	ENST00000307142.4	Missense_Mutation	SNP	4 : 119978917 - 119978917 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	545	101
LEMD2	221496	broad.mit.edu	37	6	33746091	33746091	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33746091G>A	ENST00000293760.5	-	6	1103	c.1084C>T	c.(1084-1086)Cgc>Tgc	p.R362C	LEMD2_ENST00000508327.1_Missense_Mutation_p.R60C|LEMD2_ENST00000502643.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	362						integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						ACACCCATGCGGGGGTGGGCA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	100	101			NA	NA	6		NA											NA				33746091		2203	4300	6503	SO:0001583	missense				CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904	221496	221496			21244	protein-coding gene	gene with protein product					NA	12477932	Standard	XM_166338	NM_001143944	NA	Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.1084C>T	6.37:g.33746091G>A	ENSP00000293760:p.Arg362Cys	NA	Q5T972|Q5T974	37	CCDS4785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.78|19.78	3.891482|3.891482	0.72524|0.72524	.|.	.|.	ENSG00000161904|ENSG00000161904	ENST00000504692|ENST00000293760;ENST00000508327	.|.	.|.	.|.	5.65|5.65	4.77|4.77	0.60923|0.60923	.|Inner nuclear membrane protein MAN1 (1);	.|0.215049	.|0.33327	.|N	.|0.005036	T|T	0.66015|0.66015	0.2747|0.2747	L|L	0.47716|0.47716	1.5|1.5	0.44539|0.44539	D|D	0.997496|0.997496	.|D;D	.|0.89917	.|1.0;0.999	.|D;P	.|0.73380	.|0.98;0.877	T|T	0.69562|0.69562	-0.5112|-0.5112	6|9	0.87932|0.51188	D|T	0|0.08	-5.1228|-5.1228	15.8448|15.8448	0.78879|0.78879	0.0:0.0:0.8631:0.1369|0.0:0.0:0.8631:0.1369	.|.	.|362;323	.|Q8NC56;A8MS91	.|LEMD2_HUMAN;.	L|C	9|362;60	.|.	ENSP00000421112:P9L|ENSP00000293760:R362C	P|R	-|-	2|1	0|0	LEMD2|LEMD2	33854069|33854069	1.000000|1.000000	0.71417|0.71417	0.928000|0.928000	0.36995|0.36995	0.978000|0.978000	0.69477|0.69477	4.571000|4.571000	0.60879|0.60879	1.346000|1.346000	0.45694|0.45694	0.655000|0.655000	0.94253|0.94253	CCG|CGC	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040209.3		-	ENST00000293760.5	Missense_Mutation	SNP	6 : 33746091 - 33746091 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	569	118
HRNR	388697	broad.mit.edu	37	1	152192830	152192830	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152192830G>A	ENST00000368801.2	-	3	1350	c.1275C>T	c.(1273-1275)ggC>ggT	p.G425G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	425					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)			GCTGGCCGTGGCCTGGAGACT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	77	76			NA	NA	1		NA											NA				152192830		2203	4300	6503	SO:0001819	synonymous_variant			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.1275C>T	1.37:g.152192830G>A		NA	Q5U1F4	37	CCDS30859.1																																																																																			HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034016.1		-	ENST00000368801.2	Silent	SNP	1 : 152192830 - 152192830 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	634	168
DHX58	79132	broad.mit.edu	37	17	40259626	40259626	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40259626G>A	ENST00000251642.3	-	8	1215	c.993C>T	c.(991-993)ttC>ttT	p.F331F		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	331					innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCTCACCATCGAACAGGGCCA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	15	15			NA	NA	17		NA											NA				40259626		2203	4296	6499	SO:0001819	synonymous_variant			BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771	79132	79132			29517	protein-coding gene	gene with protein product	RNA helicase LGP2	608588			NA	11735219	Standard	NM_024119	NM_024119	NA	Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.993C>T	17.37:g.40259626G>A		NA	Q9HAM6	37	CCDS11416.1																																																																																			DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257396.1		-	ENST00000251642.3	Silent	SNP	17 : 40259626 - 40259626 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	91	25
ZNF550	162972	broad.mit.edu	37	19	58058796	58058796	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58058796C>T	ENST00000457177.1	-	4	996	c.816G>A	c.(814-816)tcG>tcA	p.S272S	ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000325134.5_Silent_p.S240S|ZNF550_ENST00000506609.2_Silent_p.S231S|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000602149.1_Intron			Q7Z398	ZN550_HUMAN	zinc finger protein 550	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCATGAGGTACGACCTGCGTT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	105	113			NA	NA	19		NA											NA				58058796		2203	4300	6503	SO:0001819	synonymous_variant			AL833214	CCDS35500.1, CCDS35500.2	19q13.43	2013-05-22			ENSG00000251369	ENSG00000251369	162972	162972		Zinc fingers, C2H2-type	28643	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_153231	NM_001277090	NA	Approved	MGC41917	uc002qpd.4	Q7Z398	OTTHUMG00000133709	ENST00000457177.1:c.816G>A	19.37:g.58058796C>T		NA	B3KVF6|O43337|Q7Z6D7|Q8NE45	37																																																																																				ZNF550-001	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000257992.2		-	ENST00000457177.1	Silent	SNP	19 : 58058796 - 58058796 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	362	77
NR2C1	7181	broad.mit.edu	37	12	95422292	95422292	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95422292A>T	ENST00000333003.5	-	12	1732	c.1402T>A	c.(1402-1404)Tca>Aca	p.S468T	NR2C1_ENST00000545833.1_Intron	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	468					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						CTTTCTGTTGACATTTTATCT	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	86	88			NA	NA	12		NA											NA				95422292		2203	4300	6503	SO:0001583	missense			M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798	7181	7181		Nuclear hormone receptors	7971	protein-coding gene	gene with protein product		601529		TR2	NA	2597158	Standard	NM_003297	NM_001032287	NA	Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.1402T>A	12.37:g.95422292A>T	ENSP00000333275:p.Ser468Thr	NA	A8K5K4|Q15625|Q15626	37	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.690083	0.48097	.	.	ENSG00000120798	ENST00000333003	D	0.96830	-4.14	5.37	5.37	0.77165	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.057030	0.64402	D	0.000001	D	0.93621	0.7963	L	0.45581	1.43	0.80722	D	1	P	0.43938	0.822	B	0.42738	0.396	D	0.91549	0.5255	10	0.24483	T	0.36	.	10.1495	0.42784	0.9153:0.0:0.0847:0.0	.	468	P13056	NR2C1_HUMAN	T	468	ENSP00000333275:S468T	ENSP00000333275:S468T	S	-	1	0	NR2C1	93946423	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.432000	0.59922	2.024000	0.59613	0.460000	0.39030	TCA	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407565.2		-	ENST00000333003.5	Missense_Mutation	SNP	12 : 95422292 - 95422292 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	264	43
TLN1	7094	broad.mit.edu	37	9	35725685	35725685	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35725685C>T	ENST00000314888.9	-	2	360	c.7G>A	c.(7-9)Gca>Aca	p.A3T	TLN1_ENST00000540444.1_Missense_Mutation_p.A3T	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	3					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGTGAAAGTGCAACCATGGTG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													214	190	198			NA	NA	9		NA											NA				35725685		2203	4300	6503	SO:0001583	missense			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076	7094	7094			11845	protein-coding gene	gene with protein product		186745		TLN	NA	7635475, 10610730	Standard	NM_006289	NM_006289	NA	Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.7G>A	9.37:g.35725685C>T	ENSP00000316029:p.Ala3Thr	NA	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	37	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.148616	0.57151	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.68479	-0.33;-0.33	5.54	5.54	0.83059	.	0.199179	0.53938	D	0.000058	T	0.59004	0.2162	L	0.27053	0.805	0.80722	D	1	B;B	0.34264	0.446;0.038	B;B	0.38327	0.271;0.024	T	0.54153	-0.8336	10	0.20519	T	0.43	-13.2392	19.48	0.95005	0.0:1.0:0.0:0.0	.	3;3	Q5TCU5;Q9Y490	.;TLN1_HUMAN	T	3	ENSP00000316029:A3T;ENSP00000442981:A3T	ENSP00000316029:A3T	A	-	1	0	TLN1	35715685	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.025000	0.70864	2.606000	0.88127	0.655000	0.94253	GCA	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052353.2		-	ENST00000314888.9	Missense_Mutation	SNP	9 : 35725685 - 35725685 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1276	192
CYFIP1	23191	broad.mit.edu	37	15	23002959	23002959	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23002959G>A	ENST00000313077.7	+	31	3806	c.3681G>A	c.(3679-3681)aaG>aaA	p.K1227K	CYFIP1_ENST00000560848.1_Silent_p.K1227K|CYFIP1_ENST00000435939.2_Silent_p.K796K	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	1227					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		AGTACCTGAAGTCAGGCGACG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	70	72			NA	NA	15		NA											NA				23002959		2203	4300	6503	SO:0001819	synonymous_variant			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749	23191	23191			13759	protein-coding gene	gene with protein product	selective hybridizing clone, cytoplasmic FMRP interacting protein 1	606322			NA	11438699	Standard	NM_014608	XM_005272543	NA	Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.3681G>A	15.37:g.23002959G>A		NA	A8K6D9|Q14467|Q5IED0|Q6ZSX1|Q9BSD9|Q9BVC7	37	CCDS10009.1																																																																																			CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251136.2		+	ENST00000313077.7	Silent	SNP	15 : 23002959 - 23002959 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	402	97
OR6Y1	391112	broad.mit.edu	37	1	158517519	158517519	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158517519T>C	ENST00000302617.3	-	1	376	c.377A>G	c.(376-378)gAc>gGc	p.D126G		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TACATAGCGGTCAAAGGCCAT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	100	106			NA	NA	1		NA											NA				158517519		2202	4300	6502	SO:0001583	missense			BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532	391112	391112		GPCR / Class A : Olfactory receptors	14823	protein-coding gene	gene with protein product				OR6Y2	NA		Standard	NM_001005189	NM_001005189	NA	Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.377A>G	1.37:g.158517519T>C	ENSP00000304807:p.Asp126Gly	NA	Q6IFS0	37	CCDS30899.1	.	.	.	.	.	.	.	.	.	.	T	19.36	3.813517	0.70912	.	.	ENSG00000197532	ENST00000302617	T	0.18174	2.23	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43579	D	0.000551	T	0.51109	0.1655	H	0.97962	4.115	0.50171	D	0.999855	D	0.89917	1.0	D	0.87578	0.998	T	0.70502	-0.4854	10	0.87932	D	0	.	13.9452	0.64080	0.0:0.0:0.0:1.0	.	126	Q8NGX8	OR6Y1_HUMAN	G	126	ENSP00000304807:D126G	ENSP00000304807:D126G	D	-	2	0	OR6Y1	156784143	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	7.709000	0.84645	2.176000	0.68965	0.460000	0.39030	GAC	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051844.1		-	ENST00000302617.3	Missense_Mutation	SNP	1 : 158517519 - 158517519 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	449	110
TBC1D14	57533	broad.mit.edu	37	4	6925330	6925330	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6925330G>A	ENST00000409757.4	+	2	338	c.214G>A	c.(214-216)Gag>Aag	p.E72K	TBC1D14_ENST00000448507.1_Missense_Mutation_p.E72K	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	72						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						TCCTACCCTGGAGATCGGGAA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	47	45			NA	NA	4		NA											NA				6925330		2203	4300	6503	SO:0001583	missense			AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405	57533	57533			29246	protein-coding gene	gene with protein product		614855			NA	10718198	Standard	NM_020773	NM_020773	NA	Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.214G>A	4.37:g.6925330G>A	ENSP00000386921:p.Glu72Lys	NA	D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	37	CCDS3394.2	.	.	.	.	.	.	.	.	.	.	G	35	5.456469	0.96223	.	.	ENSG00000132405	ENST00000444368;ENST00000448507;ENST00000409757	T;T;T	0.61627	0.09;2.89;2.89	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.66934	0.2840	L	0.34521	1.04	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.69529	-0.5121	10	0.59425	D	0.04	-28.4738	17.0989	0.86644	0.0:0.0:1.0:0.0	.	72	Q9P2M4	TBC14_HUMAN	K	72	ENSP00000414951:E72K;ENSP00000404041:E72K;ENSP00000386921:E72K	ENSP00000386921:E72K	E	+	1	0	TBC1D14	6976231	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	8.256000	0.89848	2.519000	0.84933	0.655000	0.94253	GAG	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206981.3		+	ENST00000409757.4	Missense_Mutation	SNP	4 : 6925330 - 6925330 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	444	89
FRMD4A	55691	broad.mit.edu	37	10	13699468	13699468	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13699468G>A	ENST00000357447.2	-	22	2489	c.2121C>T	c.(2119-2121)caC>caT	p.H707H	FRMD4A_ENST00000358621.4_Silent_p.H692H|FRMD4A_ENST00000378503.1_Silent_p.H707H	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	707	Ser-rich.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TGGAGCTCCGGTGCCTAAAGT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	23	23			NA	NA	10		NA											NA				13699468		2189	4287	6476	SO:0001819	synonymous_variant			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474	55691	55691			25491	protein-coding gene	gene with protein product			FERM domain containing 4	FRMD4	NA	10718198	Standard	NM_018027	NM_018027	NA	Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.2121C>T	10.37:g.13699468G>A		NA	A7E2Y3|Q5T377	37	CCDS7101.1																																																																																			FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046889.1		-	ENST00000357447.2	Silent	SNP	10 : 13699468 - 13699468 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	196	6
NIPAL3	57185	broad.mit.edu	37	1	24782746	24782746	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24782746C>T	ENST00000003912.3	+	9	1225	c.510C>T	c.(508-510)acC>acT	p.T170T	NIPAL3_ENST00000339255.2_Silent_p.T252T|NIPAL3_ENST00000374399.4_Silent_p.T252T			Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	252						integral to membrane				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						TGGTGGCAACCGCCGTCTATC	0.552		NA											c	3	0.0014	NA	NA	2184	0.01	1	,	,	NA	9e-04	NA	NA	NA	0.0014	0.9844	EXOME	NA	NA	5e-04	SNP								NA				0													448	397	414			NA	NA	1		NA											NA				24782746		2203	4300	6503	SO:0001819	synonymous_variant			BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461	57185	57185			25233	protein-coding gene	gene with protein product				NPAL3	NA	8619474, 9110174	Standard	NM_020448	NM_020448	NA	Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000003912.3:c.510C>T	1.37:g.24782746C>T		NA	Q6MZT9|Q9BVE6	37		3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	c	3.023	-0.201377	0.06219	.	.	ENSG00000001461	ENST00000432012	.	.	.	5.49	-6.75	0.01738	.	.	.	.	.	T	0.25195	0.0612	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40289	-0.9571	4	.	.	.	-47.7037	0.1287	0.00072	0.2951:0.2109:0.1684:0.3256	.	.	.	.	C	31	.	.	R	+	1	0	NIPAL3	24655333	0.000000	0.05858	0.090000	0.20809	0.524000	0.34500	-4.210000	0.00273	-1.102000	0.03023	-0.993000	0.02533	CGC	NIPAL3-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000009178.2		+	ENST00000003912.3	Silent	SNP	1 : 24782746 - 24782746 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1768	442
NAPSA	9476	broad.mit.edu	37	19	50862018	50862018	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50862018C>T	ENST00000253719.2	-	9	1263	c.1055G>A	c.(1054-1056)cGc>cAc	p.R352H	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	352					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		CAAGCAGAGGCGGACGCCATT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	24	24			NA	NA	19		NA											NA				50862018		2201	4298	6499	SO:0001583	missense			AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400	9476	9476			13395	protein-coding gene	gene with protein product	kidney-derived aspartic protease-like protein	605631			NA		Standard	NM_004851	NM_004851	NA	Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.1055G>A	19.37:g.50862018C>T	ENSP00000253719:p.Arg352His	NA	Q8WWD9	37	CCDS12794.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610610	0.46527	.	.	ENSG00000131400	ENST00000253719	T	0.57907	0.37	3.24	2.11	0.27256	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	1.265940	0.04994	N	0.467899	T	0.52565	0.1742	L	0.35341	1.055	0.09310	N	1	P	0.52842	0.956	P	0.49597	0.616	T	0.47420	-0.9119	10	0.72032	D	0.01	.	9.4839	0.38917	0.0:0.5772:0.4228:0.0	.	352	O96009	NAPSA_HUMAN	H	352	ENSP00000253719:R352H	ENSP00000253719:R352H	R	-	2	0	NAPSA	55553830	0.000000	0.05858	0.556000	0.28293	0.409000	0.31022	-0.308000	0.08156	0.569000	0.29329	0.313000	0.20887	CGC	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464714.1		-	ENST00000253719.2	Missense_Mutation	SNP	19 : 50862018 - 50862018 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	175	40
KIF11	3832	broad.mit.edu	37	10	94381182	94381182	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:94381182C>A	ENST00000260731.3	+	10	1259	c.1169C>A	c.(1168-1170)gCt>gAt	p.A390D		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	390					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGAGATCTTGCTGCAGCCCGT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(47;212 1003 2764 4062 8431)							NA				0													138	136	137			NA	NA	10		NA											NA				94381182		2203	4300	6503	SO:0001583	missense			X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160	3832	3832		Kinesins	6388	protein-coding gene	gene with protein product		148760	kinesin-like 1	KNSL1	NA	1505978, 8548803	Standard	NM_004523	NM_004523	NA	Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.1169C>A	10.37:g.94381182C>A	ENSP00000260731:p.Ala390Asp	NA	A0AV49|B2RMV3|Q15716|Q5VWX0	37	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.147649	0.77888	.	.	ENSG00000138160	ENST00000260731	T	0.73897	-0.79	5.0	5.0	0.66597	.	0.125717	0.52532	D	0.000064	T	0.81288	0.4791	L	0.60455	1.87	0.54753	D	0.999985	D	0.76494	0.999	D	0.68621	0.959	T	0.78250	-0.2277	10	0.25751	T	0.34	.	12.7613	0.57365	0.0:0.9203:0.0:0.0797	.	390	P52732	KIF11_HUMAN	D	390	ENSP00000260731:A390D	ENSP00000260731:A390D	A	+	2	0	KIF11	94371162	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	5.545000	0.67237	2.320000	0.78422	0.485000	0.47835	GCT	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049401.1		+	ENST00000260731.3	Missense_Mutation	SNP	10 : 94381182 - 94381182 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	512	35
OLFML2B	25903	broad.mit.edu	37	1	161970022	161970022	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161970022C>T	ENST00000367940.2	-	5	1042	c.833G>A	c.(832-834)cGg>cAg	p.R278Q	OLFML2B_ENST00000294794.3_Missense_Mutation_p.R277Q			Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	277										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CTGCAGGGGCCGCTGTGACTT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	55	54			NA	NA	1		NA											NA				161970022		2203	4300	6503	SO:0001583	missense			BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745	25903	25903			24558	protein-coding gene	gene with protein product					NA		Standard	NM_015441	XM_005245075	NA	Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000367940.2:c.833G>A	1.37:g.161970022C>T	ENSP00000356917:p.Arg278Gln	NA	B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	37		.	.	.	.	.	.	.	.	.	.	C	12.69	2.014654	0.35511	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	D;D	0.86627	-2.15;-2.15	5.22	2.2	0.27929	.	.	.	.	.	T	0.50034	0.1592	N	0.08118	0	0.26593	N	0.973169	B;B	0.13594	0.008;0.006	B;B	0.06405	0.001;0.002	T	0.04509	-1.0946	8	0.18276	T	0.48	.	5.8403	0.18629	0.0:0.5323:0.2982:0.1695	.	278;277	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	Q	277;278	ENSP00000294794:R277Q;ENSP00000356917:R278Q	ENSP00000294794:R277Q	R	-	2	0	OLFML2B	160236646	0.722000	0.28017	0.959000	0.39883	0.888000	0.51559	0.307000	0.19296	0.172000	0.19760	0.561000	0.74099	CGG	OLFML2B-006	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000383006.1		-	ENST00000367940.2	Missense_Mutation	SNP	1 : 161970022 - 161970022 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	529	78
TUBA8	51807	broad.mit.edu	37	22	18604408	18604408	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18604408A>C	ENST00000316027.6	+	0	316				TUBA8_ENST00000330423.3_Missense_Mutation_p.T56P	NM_001193414.1	NP_001180343.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	NA					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						TTTCAGCGAGACTGGCAATGG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	80	84			NA	NA	22		NA											NA				18604408		2203	4300	6503	SO:0001623	5_prime_UTR_variant			AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785	51807	51807		Tubulins	12410	protein-coding gene	gene with protein product		605742		TUBAL2	NA	10772959, 10591208	Standard	NM_018943	NM_001193414	NA	Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000316027.6:c.-33A>C	22.37:g.18604408A>C		NA	B2RCX2|Q2M3N4	37	CCDS54495.1	.	.	.	.	.	.	.	.	.	.	A	15.39	2.818843	0.50633	.	.	ENSG00000183785	ENST00000330423;ENST00000416740	T;T	0.70869	-0.52;-0.52	5.06	5.06	0.68205	Tubulin/FtsZ, GTPase domain (4);	0.171645	0.50627	D	0.000104	T	0.80423	0.4620	H	0.95260	3.645	0.54753	D	0.999987	B;B;B	0.24186	0.058;0.022;0.099	B;B;B	0.27796	0.083;0.027;0.044	T	0.82376	-0.0488	10	0.87932	D	0	.	14.2915	0.66281	1.0:0.0:0.0:0.0	.	80;56;55	C9J2C0;Q9NY65;Q7Z3M3	.;TBA8_HUMAN;.	P	56;80	ENSP00000333326:T56P;ENSP00000412646:T80P	ENSP00000333326:T56P	T	+	1	0	TUBA8	16984408	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	9.339000	0.96797	2.030000	0.59900	0.459000	0.35465	ACT	TUBA8-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316233.2		+	ENST00000316027.6	5'UTR	SNP	22 : 18604408 - 18604408 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	55
NUAK2	81788	broad.mit.edu	37	1	205272760	205272760	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205272760G>A	ENST00000367157.3	-	7	1831	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	569					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.R569W(1)		breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ACACAGCCCCGCAGTGGGGGC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											26	32	30			NA	NA	1		NA											NA				205272760		2200	4293	6493	SO:0001583	missense			AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545	81788	81788			29558	protein-coding gene	gene with protein product	SNF1/AMP activated protein kinase	608131			NA	11230166	Standard	NM_030952	NM_030952	NA	Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.1705C>T	1.37:g.205272760G>A	ENSP00000356125:p.Arg569Trp	NA		37	CCDS1453.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304897	0.60305	.	.	ENSG00000163545	ENST00000367157	D	0.85773	-2.03	4.82	1.6	0.23607	.	0.000000	0.40908	D	0.000994	D	0.90549	0.7038	M	0.72894	2.215	0.50813	D	0.999891	D	0.89917	1.0	D	0.91635	0.999	D	0.89683	0.3892	10	0.87932	D	0	.	12.9973	0.58654	0.0:0.0:0.5903:0.4097	.	569	Q9H093	NUAK2_HUMAN	W	569	ENSP00000356125:R569W	ENSP00000356125:R569W	R	-	1	2	NUAK2	203539383	1.000000	0.71417	0.908000	0.35775	0.880000	0.50808	2.097000	0.41748	0.032000	0.15435	0.393000	0.25936	CGG	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090390.1		-	ENST00000367157.3	Missense_Mutation	SNP	1 : 205272760 - 205272760 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	85
RCBTB1	55213	broad.mit.edu	37	13	50125569	50125569	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50125569T>C	ENST00000378302.2	-	8	1007	c.747A>G	c.(745-747)acA>acG	p.T249T	RCBTB1_ENST00000258646.3_Silent_p.T249T|RCBTB1_ENST00000546015.1_Silent_p.T249T	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	249					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		AGCCCTCATCTGTTAGTGCTA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	125	132			NA	NA	13		NA											NA				50125569		2203	4300	6503	SO:0001819	synonymous_variant			AF334406	CCDS9418.1	13q14	2013-01-08			ENSG00000136144	ENSG00000136144	55213	55213		BTB/POZ domain containing	18243	protein-coding gene	gene with protein product		607867			NA	11306461	Standard	NM_018191	XM_005266441	NA	Approved	FLJ10716, CLLD7, CLLL7	uc001vde.1	Q8NDN9	OTTHUMG00000016915	ENST00000378302.2:c.747A>G	13.37:g.50125569T>C		NA	Q8IY29|Q969U9	37	CCDS9418.1																																																																																			RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044912.2		-	ENST00000378302.2	Silent	SNP	13 : 50125569 - 50125569 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	65
PRLR	5618	broad.mit.edu	37	5	35068880	35068880	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35068880C>T	ENST00000382002.5	-	8	1212		c.e8+1		PRLR_ENST00000397391.3_Intron|PRLR_ENST00000542609.1_Splice_Site|PRLR_ENST00000342362.5_Splice_Site|PRLR_ENST00000231423.3_Splice_Site|PRLR_ENST00000511486.1_Splice_Site|PRLR_ENST00000310101.5_Splice_Site|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000513753.1_Splice_Site|PRLR_ENST00000509934.1_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	NA					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CAGTGAAGTACCTATAGCCCT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	115	119			NA	NA	5		NA											NA				35068880		2203	4300	6503	SO:0001630	splice_region_variant				CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494	5618	5618			9446	protein-coding gene	gene with protein product		176761			NA		Standard		NM_001204315	NA	Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.785+1G>A	5.37:g.35068880C>T		NA	B2R882|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	37	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667185	0.88251	.	.	ENSG00000113494	ENST00000231423;ENST00000513753;ENST00000542609;ENST00000342362;ENST00000382002;ENST00000511486;ENST00000310101	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3242	0.98691	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRLR	35104637	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.173000	0.71937	2.882000	0.98803	0.655000	0.94253	.	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207575.2	Intron	-	ENST00000382002.5	Splice_Site	SNP	5 : 35068880 - 35068880 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	63
SBNO2	22904	broad.mit.edu	37	19	1119096	1119096	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1119096G>T	ENST00000587024.1	-	14	1651	c.1441C>A	c.(1441-1443)Ctc>Atc	p.L481I	SBNO2_ENST00000438103.2_Missense_Mutation_p.L424I|SBNO2_ENST00000361757.3_Missense_Mutation_p.L481I			Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	481					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGAAGCTGAGCTGGCGTGCG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	43	40			NA	NA	19		NA											NA				1119096		2196	4291	6487	SO:0001583	missense			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932	22904	22904			29158	protein-coding gene	gene with protein product		615729	KIAA0963	KIAA0963	NA	10231032	Standard	NM_014963	NM_014963	NA	Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000587024.1:c.1441C>A	19.37:g.1119096G>T	ENSP00000468520:p.Leu481Ile	NA	A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	37		.	.	.	.	.	.	.	.	.	.	G	28.2	4.903094	0.92035	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	.	.	.	3.89	3.89	0.44902	.	0.000000	0.85682	D	0.000000	D	0.83778	0.5328	M	0.88842	2.985	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.99;0.982	D	0.87589	0.2489	9	0.72032	D	0.01	-29.7548	15.375	0.74598	0.0:0.0:1.0:0.0	.	481;481;424	B4DV91;Q9Y2G9;Q9Y2G9-3	.;SBNO2_HUMAN;.	I	481;424;505	.	ENSP00000250872:L505I	L	-	1	0	SBNO2	1070096	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.421000	0.97455	2.160000	0.67779	0.462000	0.41574	CTC	SBNO2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000458060.1		-	ENST00000587024.1	Missense_Mutation	SNP	19 : 1119096 - 1119096 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	96	26
CLPTM1	1209	broad.mit.edu	37	19	45490528	45490528	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45490528C>T	ENST00000541297.2	+	8	1308	c.843C>T	c.(841-843)aaC>aaT	p.N281N	CLPTM1_ENST00000546079.1_Silent_p.N193N|CLPTM1_ENST00000337392.5_Silent_p.N295N|CLPTM1_ENST00000589158.1_3'UTR			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	295					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		ACCCCATCAACGAGAGCCTGG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	124	122			NA	NA	19		NA											NA				45490528		2203	4300	6503	SO:0001819	synonymous_variant			AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853	1209	1209			2087	protein-coding gene	gene with protein product		604783			NA	9828125	Standard	NM_001294	NM_001294	NA	Approved		uc002pai.3	O96005		ENST00000541297.2:c.843C>T	19.37:g.45490528C>T		NA	Q53ET6|Q9BSS5	37																																																																																				CLPTM1-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000453266.1		+	ENST00000541297.2	Silent	SNP	19 : 45490528 - 45490528 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1167	205
GFRAL	389400	broad.mit.edu	37	6	55216312	55216312	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55216312C>T	ENST00000340465.2	+	5	718	c.632C>T	c.(631-633)gCa>gTa	p.A211V		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	211						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAGACATGTGCAGTGAACATG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	106	107			NA	NA	6		NA											NA				55216312		2203	4300	6503	SO:0001583	missense			AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871	389400	389400			32789	protein-coding gene	gene with protein product			chromosome 6 open reading frame 144	C6orf144	NA	16086688	Standard	NM_207410	NM_207410	NA	Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.632C>T	6.37:g.55216312C>T	ENSP00000343636:p.Ala211Val	NA	Q5VTF6	37	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120224	0.56613	.	.	ENSG00000187871	ENST00000340465	T	0.42513	0.97	6.05	5.19	0.71726	.	0.062950	0.64402	D	0.000005	T	0.30947	0.0781	L	0.59436	1.845	0.39501	D	0.968204	P	0.43314	0.803	B	0.40702	0.338	T	0.31724	-0.9933	10	0.87932	D	0	-5.4052	15.1396	0.72601	0.0:0.9328:0.0:0.0672	.	211	Q6UXV0	GFRAL_HUMAN	V	211	ENSP00000343636:A211V	ENSP00000343636:A211V	A	+	2	0	GFRAL	55324271	0.997000	0.39634	0.897000	0.35233	0.739000	0.42172	3.913000	0.56394	1.566000	0.49654	0.650000	0.86243	GCA	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040995.2		+	ENST00000340465.2	Missense_Mutation	SNP	6 : 55216312 - 55216312 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	521	95
RAPGEF4	11069	broad.mit.edu	37	2	173916387	173916387	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173916387T>C	ENST00000397081.3	+	31	3071	c.2928T>C	c.(2926-2928)gcT>gcC	p.A976A	RAPGEF4_ENST00000397087.3_Silent_p.A832A|RAPGEF4_ENST00000538974.1_Silent_p.A805A|RAPGEF4_ENST00000540783.1_Silent_p.A823A|RAPGEF4_ENST00000539331.1_Silent_p.A823A|RAPGEF4_ENST00000409036.1_Silent_p.A908A|RAPGEF4_ENST00000264111.6_Silent_p.A975A|RAPGEF4_ENST00000535187.1_Silent_p.A756A	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	976	Ras-GEF.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CAGCTCAAGCTAATAAGAACC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	84	87			NA	NA	2		NA											NA				173916387		1887	4113	6000	SO:0001819	synonymous_variant			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428	11069	11069			16626	protein-coding gene	gene with protein product	cAMP-regulated guanine nucleotide exchange factor II,  exchange protein directly activated by cAMP 2	606058	RAP guanine-nucleotide-exchange factor (GEF) 4		NA	10777494, 9856955	Standard	NM_007023	NM_007023	NA	Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.2928T>C	2.37:g.173916387T>C		NA	B2R7R3|B7Z912|O95636|Q8IXK6|Q8TAA4	37	CCDS42775.1																																																																																			RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257864.2		+	ENST00000397081.3	Silent	SNP	2 : 173916387 - 173916387 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	297	56
MYH2	4620	broad.mit.edu	37	17	10438497	10438497	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10438497C>A	ENST00000532183.2	-	16	2243				RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E691D|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000245503.5_Missense_Mutation_p.E691D			Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	NA					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAAGCTCATGCTCCATGGCAC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	80	82			NA	NA	17		NA											NA				10438497		2203	4300	6503	SO:0001627	intron_variant				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414	4620	4620		Myosins / Myosin superfamily : Class II	7572	protein-coding gene	gene with protein product		160740	myosin, heavy polypeptide 2, skeletal muscle, adult, inclusion body myopathy 3, autosomal dominant	IBM3	NA	7545970, 11889243	Standard	NM_017534	NM_001100112	NA	Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000532183.2:c.1974+1349G>T	17.37:g.10438497C>A		NA	A0AVL4|Q14322|Q16229|Q86T56	37		.	.	.	.	.	.	.	.	.	.	C	3.634	-0.074998	0.07184	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.85013	-1.93;-1.93	5.1	2.96	0.34315	Myosin head, motor domain (2);	0.000000	0.39475	U	0.001342	T	0.55737	0.1939	N	0.01152	-0.98	0.41702	D	0.989408	B	0.02656	0.0	B	0.06405	0.002	T	0.57394	-0.7819	10	0.02654	T	1	.	8.1088	0.30903	0.0:0.6937:0.0:0.3063	.	691	Q9UKX2	MYH2_HUMAN	D	691	ENSP00000245503:E691D;ENSP00000380367:E691D	ENSP00000245503:E691D	E	-	3	2	MYH2	10379222	0.222000	0.23652	1.000000	0.80357	0.845000	0.48019	-0.368000	0.07543	1.363000	0.46019	0.591000	0.81541	GAG	MYH2-006	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000394461.43		-	ENST00000532183.2	Intron	SNP	17 : 10438497 - 10438497 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	246	60
UBQLNL	143630	broad.mit.edu	37	11	5536814	5536814	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5536814T>G	ENST00000380184.1	-	1	1121	c.858A>C	c.(856-858)caA>caC	p.Q286H	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	286										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CAAAAGGATCTTGCATGCTGT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	105	108			NA	NA	11		NA											NA				5536814		2201	4297	6498	SO:0001583	missense			AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518	143630	143630		Ubiquilin family	28294	protein-coding gene	gene with protein product					NA		Standard	NM_145053	NM_145053	NA	Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.858A>C	11.37:g.5536814T>G	ENSP00000369531:p.Gln286His	NA	Q6ZRU1|Q96EK3|Q96MB0	37	CCDS31385.1	.	.	.	.	.	.	.	.	.	.	T	8.522	0.868898	0.17322	.	.	ENSG00000175518	ENST00000380184	T	0.54279	0.58	5.09	-3.75	0.04372	.	0.899723	0.09404	N	0.806765	T	0.37183	0.0994	L	0.49778	1.585	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.39482	-0.9612	10	0.56958	D	0.05	.	0.7817	0.01041	0.4531:0.1873:0.1344:0.2252	.	286	Q8IYU4	UBQLN_HUMAN	H	286	ENSP00000369531:Q286H	ENSP00000369531:Q286H	Q	-	3	2	UBQLNL	5493390	0.000000	0.05858	0.008000	0.14137	0.593000	0.36681	-1.914000	0.01579	-0.550000	0.06183	0.533000	0.62120	CAA	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000143386.1		-	ENST00000380184.1	Missense_Mutation	SNP	11 : 5536814 - 5536814 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	344	71
ZFYVE26	23503	broad.mit.edu	37	14	68271970	68271970	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68271970T>C	ENST00000347230.4	-	8	1373	c.1235A>G	c.(1234-1236)cAc>cGc	p.H412R	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.H412R	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	412					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GACCTCCAGGTGAGCCCACAA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	51	55			NA	NA	14		NA											NA				68271970		2203	4300	6503	SO:0001583	missense			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121	23503	23503		Zinc fingers, FYVE domain containing	20761	protein-coding gene	gene with protein product	spastizin, FYVE-CENT	612012	spastic paraplegia 15 (complicated, autosomal recessive)	SPG15	NA	9205841, 18394578	Standard	NM_015346	NM_015346	NA	Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.1235A>G	14.37:g.68271970T>C	ENSP00000251119:p.His412Arg	NA	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	T	19.98	3.927777	0.73327	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.26810	1.85;1.71	5.9	5.9	0.94986	.	0.053647	0.85682	D	0.000000	T	0.43545	0.1252	L	0.51422	1.61	0.42057	D	0.991149	D;D;P	0.67145	0.996;0.992;0.842	P;P;B	0.62089	0.898;0.77;0.138	T	0.21895	-1.0232	10	0.46703	T	0.11	-19.8127	16.3196	0.82941	0.0:0.0:0.0:1.0	.	412;412;412	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	R	412;391;412	ENSP00000251119:H412R;ENSP00000450603:H412R	ENSP00000251119:H412R	H	-	2	0	ZFYVE26	67341723	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.209000	0.65208	2.248000	0.74166	0.459000	0.35465	CAC	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412736.2		-	ENST00000347230.4	Missense_Mutation	SNP	14 : 68271970 - 68271970 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	162	16
ITPRIP	85450	broad.mit.edu	37	10	106074778	106074778	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106074778C>T	ENST00000337478.1	-	2	1203	c.1032G>A	c.(1030-1032)atG>atA	p.M344I	ITPRIP_ENST00000358187.2_Missense_Mutation_p.M344I|ITPRIP_ENST00000278071.2_Missense_Mutation_p.M344I	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	344						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GGTTGAAGGGCATGAACTTCC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	71	76			NA	NA	10		NA											NA				106074778		2203	4300	6503	SO:0001583	missense			AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841	85450	85450			29370	protein-coding gene	gene with protein product			KIAA1754, inositol 1,4,5-triphosphate receptor interacting protein	KIAA1754	NA	11214970, 16990268	Standard	NM_033397	NM_001272012	NA	Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.1032G>A	10.37:g.106074778C>T	ENSP00000337178:p.Met344Ile	NA	D3DRA5|Q5JU17|Q96MS8|Q9C0A9	37	CCDS7557.1	.	.	.	.	.	.	.	.	.	.	C	0.420	-0.908862	0.02434	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187	T;T;T	0.20738	2.05;2.05;2.05	4.99	3.01	0.34805	.	0.148200	0.64402	D	0.000013	T	0.09468	0.0233	N	0.17631	0.505	0.27709	N	0.945533	B	0.06786	0.001	B	0.08055	0.003	T	0.36866	-0.9730	10	0.02654	T	1	-39.1216	7.4632	0.27306	0.2498:0.4072:0.343:0.0	.	344	Q8IWB1	IPRI_HUMAN	I	344	ENSP00000337178:M344I;ENSP00000278071:M344I;ENSP00000350915:M344I	ENSP00000278071:M344I	M	-	3	0	ITPRIP	106064768	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	1.183000	0.32041	2.470000	0.83445	0.462000	0.41574	ATG	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050204.1		-	ENST00000337478.1	Missense_Mutation	SNP	10 : 106074778 - 106074778 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	537	94
CACYBP	27101	broad.mit.edu	37	1	174979110	174979110	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:174979110T>C	ENST00000405362.1	+	6	954	c.453T>C	c.(451-453)gtT>gtC	p.V151V	CACYBP_ENST00000367679.2_Silent_p.V194V|CACYBP_ENST00000367681.2_Silent_p.V151V			Q9HB71	CYBP_HUMAN	calcyclin binding protein	194	CS.|Interaction with SKP1.					beta-catenin destruction complex	protein homodimerization activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						TGATGAATGTTCTAAAGAAAA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	72	72			NA	NA	1		NA											NA				174979110		2203	4300	6503	SO:0001819	synonymous_variant			BC022352	CCDS1315.1, CCDS30942.1	1q24-q25	2008-02-05			ENSG00000116161	ENSG00000116161	27101	27101			30423	protein-coding gene	gene with protein product		606186			NA	11389839, 12421809	Standard	NM_014412	XM_005245092	NA	Approved	SIP, S100A6BP	uc001gkj.1	Q9HB71	OTTHUMG00000034941	ENST00000405362.1:c.453T>C	1.37:g.174979110T>C		NA	B2ZWH2|O60666	37	CCDS30942.1																																																																																			CACYBP-004	PUTATIVE	alternative_5_UTR|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084586.2		+	ENST00000405362.1	Silent	SNP	1 : 174979110 - 174979110 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	352	100
PCSK5	5125	broad.mit.edu	37	9	78947380	78947380	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:78947380C>A	ENST00000545128.1	+	33	5059	c.4521C>A	c.(4519-4521)ggC>ggA	p.G1507G		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	677					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCCCAGAGGGCTATTATGCCG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	81	84			NA	NA	9		NA											NA				78947380		876	1991	2867	SO:0001819	synonymous_variant				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139	5125	5125			8747	protein-coding gene	gene with protein product		600488			NA	7782070	Standard		NM_001190482	NA	Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.4521C>A	9.37:g.78947380C>A		NA	Q13527|Q96EP4	37	CCDS55320.1																																																																																			PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding			+	ENST00000545128.1	Silent	SNP	9 : 78947380 - 78947380 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	35
RFPL2	10739	broad.mit.edu	37	22	32586765	32586765	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32586765G>T	ENST00000400237.1	-	5	2066	c.1131C>A	c.(1129-1131)gcC>gcA	p.A377A	RFPL2_ENST00000248980.4_Silent_p.A316A|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248983.4_Silent_p.A287A|RFPL2_ENST00000400236.3_Silent_p.A287A			O75678	RFPL2_HUMAN	ret finger protein-like 2	377							zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						GGGCTTATTTGGCCTCCCCAG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	83	80			NA	NA	22		NA											NA				32586765		2183	4277	6460	SO:0001819	synonymous_variant			AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253	10739	10739		RING-type (C3HC4) zinc fingers	9979	protein-coding gene	gene with protein product		605969			NA	10508838	Standard	NM_006605	NM_001098527	NA	Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.1131C>A	22.37:g.32586765G>T		NA		37	CCDS43009.2																																																																																			RFPL2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075262.2		-	ENST00000400237.1	Silent	SNP	22 : 32586765 - 32586765 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	569	98
XYLT2	64132	broad.mit.edu	37	17	48437340	48437340	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48437340C>T	ENST00000017003.2	+	11	2335	c.2286C>T	c.(2284-2286)agC>agT	p.S762S	XYLT2_ENST00000507602.1_Intron	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	762					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					ATGATGCCAGCTGGCTGCACG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	27	31			NA	NA	17		NA											NA				48437340		2201	4298	6499	SO:0001819	synonymous_variant			AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	64132	64132	2.4.2.26		15517	protein-coding gene	gene with protein product	protein xylosyltransferase 2	608125			NA	11099377	Standard	NM_022167	NM_022167	NA	Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.2286C>T	17.37:g.48437340C>T		NA	Q6UY41|Q86V00	37	CCDS11563.1																																																																																			XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367046.1		+	ENST00000017003.2	Silent	SNP	17 : 48437340 - 48437340 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	68	15
WDR73	84942	broad.mit.edu	37	15	85191804	85191804	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85191804C>T	ENST00000434634.2	-	4	311	c.251G>A	c.(250-252)aGg>aAg	p.R84K	WDR73_ENST00000398528.3_5'UTR	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	84										cervix(1)|large_intestine(1)|lung(1)	3						AAAGATAGACCTGTCTGAAAA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	164	164			NA	NA	15		NA											NA				85191804		1942	4136	6078	SO:0001583	missense			AK027200	CCDS45339.1	15q25.2	2013-01-09				ENSG00000177082	84942	84942		WD repeat domain containing	25928	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_032856	NM_032856	NA	Approved	FLJ14888, HSPC264	uc002bkw.2	Q6P4I2		ENST00000434634.2:c.251G>A	15.37:g.85191804C>T	ENSP00000387982:p.Arg84Lys	NA	Q96JZ1|Q9P0B7	37	CCDS45339.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432820	0.25813	.	.	ENSG00000177082	ENST00000398528;ENST00000434634	T	0.28454	1.61	5.91	0.265	0.15612	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.613293	0.17647	N	0.166813	T	0.15869	0.0382	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.002	T	0.14172	-1.0482	10	0.45353	T	0.12	-11.0667	4.9785	0.14153	0.0:0.4561:0.1674:0.3765	.	84;84	B4DI20;Q6P4I2	.;WDR73_HUMAN	K	92;84	ENSP00000387982:R84K	ENSP00000381539:R92K	R	-	2	0	WDR73	82992808	0.000000	0.05858	0.009000	0.14445	0.936000	0.57629	0.010000	0.13242	0.089000	0.17243	0.655000	0.94253	AGG	WDR73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418195.1		-	ENST00000434634.2	Missense_Mutation	SNP	15 : 85191804 - 85191804 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	663	90
POSTN	10631	broad.mit.edu	37	13	38154704	38154704	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38154704C>T	ENST00000379747.4	-	11	1640	c.1523G>A	c.(1522-1524)cGc>cAc	p.R508H	POSTN_ENST00000541481.1_Missense_Mutation_p.R508H|POSTN_ENST00000379749.4_Missense_Mutation_p.R508H|POSTN_ENST00000379742.4_Missense_Mutation_p.R508H|POSTN_ENST00000541179.1_Missense_Mutation_p.R508H|POSTN_ENST00000379743.4_Missense_Mutation_p.R508H	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	508	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TTACCTAAAGCGCTTATCTTG	0.438		NA											C	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.9547	EXOME	NA	NA	1e-04	SNP								NA				0													271	260	264			NA	NA	13		NA											NA				38154704		2203	4300	6503	SO:0001583	missense			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110	10631	10631			16953	protein-coding gene	gene with protein product		608777			NA	8363580, 12235007	Standard	NM_006475	NM_006475	NA	Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.1523G>A	13.37:g.38154704C>T	ENSP00000369071:p.Arg508His	NA	Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	37	CCDS9364.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	24.6	4.551710	0.86127	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	D;D;D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9;-2.9;-2.9	5.02	5.02	0.67125	FAS1 domain (4);	0.290945	0.39475	N	0.001349	D	0.96210	0.8764	M	0.80183	2.485	0.45066	D	0.998089	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.998;0.993;0.998;0.995;0.975;0.993	D	0.96451	0.9334	10	0.62326	D	0.03	-9.2511	18.6988	0.91613	0.0:1.0:0.0:0.0	.	508;508;508;508;508;508;508	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	H	508	ENSP00000437959:R508H;ENSP00000369073:R508H;ENSP00000369071:R508H;ENSP00000369067:R508H;ENSP00000369066:R508H;ENSP00000437953:R508H	ENSP00000369066:R508H	R	-	2	0	POSTN	37052704	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.236000	0.65354	2.472000	0.83506	0.557000	0.71058	CGC	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044566.2		-	ENST00000379747.4	Missense_Mutation	SNP	13 : 38154704 - 38154704 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1013	77
DLGAP2	9228	broad.mit.edu	37	8	1626412	1626412	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:1626412C>T	ENST00000421627.2	+	9	2215	c.2081C>T	c.(2080-2082)aCg>aTg	p.T694M		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	773					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AACAGCGTCACGGCCGCCGTC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	59	57			NA	NA	8		NA											NA				1626412		2092	4194	6286	SO:0001583	missense			AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010	9228	9228			2906	protein-coding gene	gene with protein product		605438	discs, large (Drosophila) homolog-associated protein 2		NA	9286858, 10854099	Standard	NM_004745	NM_004745	NA	Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2081C>T	8.37:g.1626412C>T	ENSP00000400258:p.Thr694Met	NA	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	37	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.601107|4.601107	0.87055|0.87055	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000520901|ENST00000356067;ENST00000421627	.|T	.|0.21932	.|1.98	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.50514|0.50514	0.1620|0.1620	M|M	0.80616|0.80616	2.505|2.505	0.49687|0.49687	D|D	0.99981|0.99981	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.78314	.|0.984;0.991	T|T	0.58329|0.58329	-0.7655|-0.7655	5|10	.|0.87932	.|D	.|0	-9.9664|-9.9664	17.9665|17.9665	0.89100|0.89100	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|759;773	.|Q9P1A6-2;Q9P1A6	.|.;DLGP2_HUMAN	W|M	697|725;694	.|ENSP00000400258:T694M	.|ENSP00000348366:T725M	R|T	+|+	1|2	2|0	DLGAP2|DLGAP2	1613819|1613819	1.000000|1.000000	0.71417|0.71417	0.903000|0.903000	0.35520|0.35520	0.925000|0.925000	0.55904|0.55904	7.350000|7.350000	0.79385|0.79385	2.231000|2.231000	0.72958|0.72958	0.557000|0.557000	0.71058|0.71058	CGG|ACG	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374478.1		+	ENST00000421627.2	Missense_Mutation	SNP	8 : 1626412 - 1626412 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	50
RAB4A	5867	broad.mit.edu	37	1	229433282	229433282	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229433282C>T	ENST00000366690.4	+	5	552	c.344C>T	c.(343-345)gCg>gTg	p.A115V	RAB4A_ENST00000473894.1_3'UTR	NM_004578.2	NP_004569.2	P20338	RAB4A_HUMAN	RAB4A, member RAS oncogene family	110							GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				CGAATGCTAGCGAGCCAGAAC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(11;250 603 9619 16563)							NA				0													128	121	124			NA	NA	1		NA											NA				229433282		2203	4300	6503	SO:0001583	missense			BC004309	CCDS31050.1, CCDS73046.1	1q42-q43	2014-04-03		2002-02-28	ENSG00000168118	ENSG00000168118	5867	5867		RAB, member RAS oncogene	9781	protein-coding gene	gene with protein product		179511		RAB4	NA		Standard	NM_004578	NM_004578	NA	Approved	HRES-1/RAB4	uc001hth.4	P20338	OTTHUMG00000037627	ENST00000366690.4:c.344C>T	1.37:g.229433282C>T	ENSP00000355651:p.Ala115Val	NA	Q5T7P7|Q9BQ44	37	CCDS31050.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295386	0.81025	.	.	ENSG00000168118	ENST00000366690	T	0.77358	-1.09	5.48	4.57	0.56435	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.75796	0.3898	L	0.57130	1.785	0.80722	D	1	P	0.45176	0.852	B	0.41946	0.371	T	0.78750	-0.2082	10	0.72032	D	0.01	.	14.3666	0.66810	0.0:0.9287:0.0:0.0713	.	110	P20338	RAB4A_HUMAN	V	115	ENSP00000355651:A115V	ENSP00000355651:A115V	A	+	2	0	RAB4A	227499905	1.000000	0.71417	0.938000	0.37757	0.981000	0.71138	7.818000	0.86416	1.294000	0.44707	0.655000	0.94253	GCG	RAB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091727.3		+	ENST00000366690.4	Missense_Mutation	SNP	1 : 229433282 - 229433282 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	756	40
NAV2	89797	broad.mit.edu	37	11	19961293	19961293	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:19961293G>A	ENST00000396085.1	+	8	2481	c.2120G>A	c.(2119-2121)gGa>gAa	p.G707E	NAV2_ENST00000540292.1_Missense_Mutation_p.G661E|NAV2_ENST00000349880.4_Missense_Mutation_p.G707E|NAV2_ENST00000527559.2_Missense_Mutation_p.G659E|NAV2_ENST00000360655.4_Missense_Mutation_p.G643E|NAV2_ENST00000396087.3_Missense_Mutation_p.G730E	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	730						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ACCAAGACTGGACAGCCTGCT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	105	116			NA	NA	11		NA											NA				19961293		2199	4293	6492	SO:0001583	missense			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	89797	89797	3.6.1.1		15997	protein-coding gene	gene with protein product	pore membrane and/or filament interacting like protein 2, retinoic acid inducible gene in neuroblastoma 1, helicase, APC down-regulated 1	607026			NA	12079279, 12062803	Standard	NM_145117	NM_145117	NA	Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396085.1:c.2120G>A	11.37:g.19961293G>A	ENSP00000379394:p.Gly707Glu	NA	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	37	CCDS7851.2	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132349	0.56828	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.28666	1.6;1.71;1.71;1.71;1.61;1.61	5.71	4.78	0.61160	.	0.094301	0.46442	D	0.000290	T	0.28665	0.0710	L	0.44542	1.39	0.80722	D	1	B;B	0.21071	0.051;0.041	B;B	0.22753	0.041;0.031	T	0.03784	-1.1004	9	.	.	.	.	16.3163	0.82930	0.0:0.2485:0.7515:0.0	.	707;643	Q8IVL1-3;Q8IVL1-4	.;.	E	643;707;707;730;659;661	ENSP00000353871:G643E;ENSP00000379394:G707E;ENSP00000309577:G707E;ENSP00000379396:G730E;ENSP00000435395:G659E;ENSP00000443489:G661E	.	G	+	2	0	NAV2	19917869	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.932000	0.56537	1.372000	0.46190	0.563000	0.77884	GGA	NAV2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324113.1		+	ENST00000396085.1	Missense_Mutation	SNP	11 : 19961293 - 19961293 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	176	32
GABPA	2551	broad.mit.edu	37	21	27136617	27136617	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27136617C>T	ENST00000354828.3	+	8	1426	c.899C>T	c.(898-900)cCg>cTg	p.P300L	GABPA_ENST00000400075.3_Missense_Mutation_p.P300L	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	300					positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						CAAAGAGCGCCGAGGATTTCA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	64	63			NA	NA	21		NA											NA				27136617		2203	4297	6500	SO:0001583	missense				CCDS13575.1	21q21-q22.1	2008-07-31	2002-08-29		ENSG00000154727	ENSG00000154727	2551	2551			4071	protein-coding gene	gene with protein product	human nuclear respiratory factor-2 subunit alpha, nuclear respiratory factor 2 alpha subunit	600609	GA-binding protein transcription factor, alpha subunit (60kD)		NA	8441384	Standard	NM_002040	NM_002040	NA	Approved	E4TF1A, NFT2, NRF2, E4TF1-60, NRF2A	uc002yly.4	Q06546	OTTHUMG00000078443	ENST00000354828.3:c.899C>T	21.37:g.27136617C>T	ENSP00000346886:p.Pro300Leu	NA	Q12939	37	CCDS13575.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344595	0.61073	.	.	ENSG00000154727	ENST00000354828;ENST00000400075	T;T	0.13657	2.57;2.57	4.67	4.67	0.58626	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.085290	0.50627	D	0.000119	T	0.09423	0.0232	L	0.27053	0.805	0.80722	D	1	P	0.51351	0.944	B	0.35353	0.201	T	0.29181	-1.0020	10	0.25106	T	0.35	.	17.7202	0.88349	0.0:1.0:0.0:0.0	.	300	Q06546	GABPA_HUMAN	L	300	ENSP00000346886:P300L;ENSP00000382948:P300L	ENSP00000346886:P300L	P	+	2	0	GABPA	26058488	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.331000	0.65905	2.586000	0.87340	0.591000	0.81541	CCG	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000171365.1		+	ENST00000354828.3	Missense_Mutation	SNP	21 : 27136617 - 27136617 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	420	71
ZNF671	79891	broad.mit.edu	37	19	58232204	58232204	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58232204C>T	ENST00000317398.6	-	4	1345	c.1250G>A	c.(1249-1251)cGa>cAa	p.R417Q	AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Missense_Mutation_p.R319Q|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGTGTGAGTTCGTTGGTGCAG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	102	111			NA	NA	19		NA											NA				58232204		2203	4300	6503	SO:0001583	missense				CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814	79891	79891		Zinc fingers, C2H2-type, -	26279	protein-coding gene	gene with protein product	hypothetical protein FLJ23506				NA	12477932	Standard	NM_024833	NM_024833	NA	Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.1250G>A	19.37:g.58232204C>T	ENSP00000321848:p.Arg417Gln	NA	A6NF07|Q9H5E9	37	CCDS12961.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.653582	0.88056	.	.	ENSG00000083814	ENST00000317398;ENST00000335820	T;T	0.24723	1.84;1.84	1.88	1.88	0.25563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41834	0.1176	L	0.60845	1.875	0.20638	N	0.999879	D	0.89917	1.0	D	0.64877	0.93	T	0.11494	-1.0585	9	0.87932	D	0	.	9.7464	0.40448	0.0:1.0:0.0:0.0	.	417	Q8TAW3	ZN671_HUMAN	Q	417;319	ENSP00000321848:R417Q;ENSP00000338670:R319Q	ENSP00000321848:R417Q	R	-	2	0	ZNF671	62924016	0.000000	0.05858	0.008000	0.14137	0.985000	0.73830	-0.672000	0.05244	1.359000	0.45940	0.467000	0.42956	CGA	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466817.1		-	ENST00000317398.6	Missense_Mutation	SNP	19 : 58232204 - 58232204 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	546	110
ARNTL	406	broad.mit.edu	37	11	13378325	13378325	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:13378325G>A	ENST00000401424.1	+	6	576		c.e6+1		ARNTL_ENST00000396441.3_Splice_Site|ARNTL_ENST00000361003.4_Splice_Site|ARNTL_ENST00000389707.4_Splice_Site|ARNTL_ENST00000403510.3_Splice_Site|ARNTL_ENST00000403290.1_Splice_Site|ARNTL_ENST00000389708.3_Splice_Site	NM_001030273.1	NP_001025444.1	O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	NA					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		CTCATGGAAGGTACCATGAAC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	120	127			NA	NA	11		NA											NA				13378325		2200	4294	6494	SO:0001630	splice_region_variant			D89722	CCDS31430.1, CCDS44543.1, CCDS73259.1	11p15	2013-05-21			ENSG00000133794	ENSG00000133794	406	406		Basic helix-loop-helix proteins	701	protein-coding gene	gene with protein product		602550			NA	9144434, 9079689	Standard	NM_001178	XM_005252930	NA	Approved	MOP3, JAP3, BMAL1, PASD3, bHLHe5	uc001mkp.3	O00327	OTTHUMG00000150623	ENST00000401424.1:c.50+1G>A	11.37:g.13378325G>A		NA	A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	37		.	.	.	.	.	.	.	.	.	.	G	20.6	4.010702	0.75046	.	.	ENSG00000133794	ENST00000527998;ENST00000396441;ENST00000533520;ENST00000529825;ENST00000389707;ENST00000401424;ENST00000529388;ENST00000530357;ENST00000403290;ENST00000361003;ENST00000389708;ENST00000403510;ENST00000482049;ENST00000339640	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.237	0.87001	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARNTL	13334901	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.517000	0.81783	2.679000	0.91253	0.655000	0.94253	.	ARNTL-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000319172.1	Intron	+	ENST00000401424.1	Splice_Site	SNP	11 : 13378325 - 13378325 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	337	68
ABCC2	1244	broad.mit.edu	37	10	101560322	101560322	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101560322T>C	ENST00000370449.4	+	9	1322		c.e9+2			NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	NA						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TATAAGAAGGTAAGCAGAATA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	120	125			NA	NA	10		NA											NA				101560322		2203	4300	6503	SO:0001630	splice_region_variant			U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839	1244	1244		ATP binding cassette transporters / subfamily C	53	protein-coding gene	gene with protein product		601107	canalicular multispecific organic anion transporter 1	CMOAT	NA	8797578, 9284939	Standard	NM_000392	XM_006717630	NA	Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.1209+2T>C	10.37:g.101560322T>C		NA	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	37	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.671329	0.88348	.	.	ENSG00000023839	ENST00000370449	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.133	0.81458	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCC2	101550312	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	8.021000	0.88750	2.212000	0.71576	0.459000	0.35465	.	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049825.1	Intron	+	ENST00000370449.4	Splice_Site	SNP	10 : 101560322 - 101560322 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	563	109
OBFC1	79991	broad.mit.edu	37	10	105657393	105657393	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105657393C>T	ENST00000224950.3	-	7	833	c.666G>A	c.(664-666)caG>caA	p.Q222Q	OBFC1_ENST00000369764.1_Silent_p.Q222Q|OBFC1_ENST00000466828.1_5'UTR	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	222					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		GGTAAAAGCTCTGCACTCTGT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	106	111			NA	NA	10		NA											NA				105657393		2203	4300	6503	SO:0001819	synonymous_variant			BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960	79991	79991			26200	protein-coding gene	gene with protein product		613128			NA	12477932	Standard	NM_024928	NM_024928	NA	Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.666G>A	10.37:g.105657393C>T		NA	D3DR99|Q5TCZ0	37	CCDS7552.1																																																																																			OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050174.1		-	ENST00000224950.3	Silent	SNP	10 : 105657393 - 105657393 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	428	80
INSR	3643	broad.mit.edu	37	19	7142938	7142938	+	Missense_Mutation	SNP	C	C	T	rs35045353		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7142938C>T	ENST00000341500.5	-	11	2434	c.2395G>A	c.(2395-2397)Ggc>Agc	p.G799S	INSR_ENST00000302850.5_Missense_Mutation_p.G811S	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	811	Fibronectin type-III 2.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGTCGCAAGCCGGAGATGACC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	70	86			NA	NA	19		NA											NA				7142938		2203	4300	6503	SO:0001583	missense			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105	NA	3643		CD molecules, Fibronectin type III domain containing	6091	protein-coding gene	gene with protein product		147670			NA	2983222	Standard		NM_000208	NA	Approved	CD220	uc002mgd.1	P06213		ENST00000341500.5:c.2395G>A	19.37:g.7142938C>T	ENSP00000342838:p.Gly799Ser	NA	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	37	CCDS42487.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919593	0.52653	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	T;T	0.71579	-0.58;-0.58	5.56	5.56	0.83823	Fibronectin, type III (3);	0.000000	0.45867	U	0.000332	T	0.70245	0.3202	M	0.79123	2.44	0.45822	D	0.998691	B;B	0.34200	0.103;0.441	B;B	0.27796	0.083;0.061	T	0.70788	-0.4777	10	0.36615	T	0.2	.	17.0297	0.86457	0.0:1.0:0.0:0.0	rs35045353	799;811	P06213-2;P06213	.;INSR_HUMAN	S	811;799	ENSP00000303830:G811S;ENSP00000342838:G799S	ENSP00000303830:G811S	G	-	1	0	INSR	7093938	0.970000	0.33590	0.957000	0.39632	0.675000	0.39556	2.293000	0.43558	2.609000	0.88269	0.655000	0.94253	GGC	INSR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458543.1		-	ENST00000341500.5	Missense_Mutation	SNP	19 : 7142938 - 7142938 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	157	26
VPS9D1	9605	broad.mit.edu	37	16	89775730	89775730	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89775730G>A	ENST00000561976.1	-	11	1669	c.1292C>T	c.(1291-1293)gCc>gTc	p.A431V	VPS9D1_ENST00000389386.3_Missense_Mutation_p.A501V					VPS9 domain containing 1	NA											NA						GGCCCCCTTGGCCTCAGGGTT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	39	37			NA	NA	16		NA											NA				89775730		1959	4140	6099	SO:0001583	missense			AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399	9605	9605			13526	protein-coding gene	gene with protein product			chromosome 16 open reading frame 7	C16orf7	NA	10231027	Standard	NM_004913	NM_004913	NA	Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000561976.1:c.1292C>T	16.37:g.89775730G>A	ENSP00000454244:p.Ala431Val	NA		37		.	.	.	.	.	.	.	.	.	.	G	3.990	-0.004764	0.07773	.	.	ENSG00000075399	ENST00000389386	T	0.30981	1.51	5.1	3.05	0.35203	Vacuolar sorting protein 9 (1);	0.353012	0.28847	N	0.013948	T	0.20210	0.0486	L	0.33485	1.01	0.22521	N	0.99903	B	0.19706	0.038	B	0.19391	0.025	T	0.16305	-1.0407	10	0.20046	T	0.44	.	8.6373	0.33957	0.0875:0.156:0.7565:0.0	.	501	Q9Y2B5	CP007_HUMAN	V	501	ENSP00000374037:A501V	ENSP00000374037:A501V	A	-	2	0	C16orf7	88303231	0.001000	0.12720	0.696000	0.30242	0.141000	0.21300	0.863000	0.27913	1.243000	0.43853	0.561000	0.74099	GCC	VPS9D1-001	PUTATIVE	non_canonical_conserved|basic	protein_coding	NA	protein_coding	OTTHUMT00000422507.1		-	ENST00000561976.1	Missense_Mutation	SNP	16 : 89775730 - 89775730 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	460	123
KSR1	8844	broad.mit.edu	37	17	25936261	25936261	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25936261G>T	ENST00000398988.3	+	18	2231	c.1786G>T	c.(1786-1788)Gat>Tat	p.D596Y	KSR1_ENST00000509603.2_Missense_Mutation_p.D711Y|KSR1_ENST00000268763.6_Missense_Mutation_p.D596Y|KSR1_ENST00000319524.6_Missense_Mutation_p.D733Y	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	731					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CGTACACAAAGATCTCAAATC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(88;1120 1336 6324 10502 16832)							NA				0													116	114	115			NA	NA	17		NA											NA				25936261		2021	4201	6222	SO:0001583	missense			U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068	8844	8844			6465	protein-coding gene	gene with protein product		601132	kinase suppressor of ras	KSR	NA	8521512	Standard	NM_014238	XM_006722151	NA	Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000398988.3:c.1786G>T	17.37:g.25936261G>T	ENSP00000381958:p.Asp596Tyr	NA	Q13476	37	CCDS58532.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.5|28.5	4.924694|4.924694	0.92319|0.92319	.|.	.|.	ENSG00000141068|ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982|ENST00000398988	T;T;T|.	0.68903|.	-0.36;-0.36;-0.36|.	5.82|5.82	5.82|5.82	0.92795|0.92795	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91620|0.91620	0.7352|0.7352	H|H	0.99325|0.99325	4.515|4.515	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.94688|0.94688	0.7871|0.7871	10|5	0.87932|.	D|.	0|.	.|.	19.0895|19.0895	0.93221|0.93221	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	731;711|.	Q8IVT5;F5H0K8|.	KSR1_HUMAN;.|.	Y|I	733;711;596;596|446	ENSP00000323178:D733Y;ENSP00000438795:D711Y;ENSP00000268763:D596Y|.	ENSP00000268763:D596Y|.	D|R	+|+	1|2	0|0	KSR1|KSR1	22960388|22960388	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.981000|0.981000	0.71138|0.71138	9.724000|9.724000	0.98775|0.98775	2.748000|2.748000	0.94277|0.94277	0.655000|0.655000	0.94253|0.94253	GAT|AGA	KSR1-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255074.2		+	ENST00000398988.3	Missense_Mutation	SNP	17 : 25936261 - 25936261 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	293	50
RPTOR	57521	broad.mit.edu	37	17	78796055	78796055	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78796055C>A	ENST00000306801.3	+	8	1307	c.945C>A	c.(943-945)atC>atA	p.I315I	RPTOR_ENST00000537330.1_Silent_p.I130I|RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Silent_p.I315I|RPTOR_ENST00000570891.1_Silent_p.I315I	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	315					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TGAACTGGATCTTCACAGCCA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													207	203	204			NA	NA	17		NA											NA				78796055		2203	4300	6503	SO:0001819	synonymous_variant				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564	57521	57521		WD repeat domain containing	30287	protein-coding gene	gene with protein product	regulatory associated protein of mTOR	607130			NA	10718198, 12150926	Standard	NM_020761	NM_001163034	NA	Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.945C>A	17.37:g.78796055C>A		NA	B2RN36|Q8N4V9|Q8TB32|Q9P2P3	37	CCDS11773.1																																																																																			RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438125.1		+	ENST00000306801.3	Silent	SNP	17 : 78796055 - 78796055 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1937	304
TAAR1	134864	broad.mit.edu	37	6	132966836	132966836	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132966836C>T	ENST00000275216.1	-	1	306	c.307G>A	c.(307-309)Gac>Aac	p.D103N		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	103						plasma membrane		p.D103N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	AGCATAATGTCGGTGCTTGTG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											86	82	83			NA	NA	6		NA											NA				132966836		2203	4299	6502	SO:0001583	missense			AY180374	CCDS5158.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146399	ENSG00000146399	134864	134864		GPCR / Class A : Trace amine associated receptors	17734	protein-coding gene	gene with protein product		609333	trace amine receptor 1	TRAR1	NA	11459929, 15718104	Standard	NM_138327	NM_138327	NA	Approved	TAR1, TA1	uc003qdm.1	Q96RJ0	OTTHUMG00000015583	ENST00000275216.1:c.307G>A	6.37:g.132966836C>T	ENSP00000275216:p.Asp103Asn	NA	Q2M1W5|Q3MIH8|Q5VUQ1	37	CCDS5158.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.985590	0.93044	.	.	ENSG00000146399	ENST00000275216	T	0.19394	2.15	5.93	5.93	0.95920	GPCR, rhodopsin-like superfamily (1);	0.050966	0.85682	D	0.000000	T	0.49626	0.1568	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54853	-0.8231	10	0.72032	D	0.01	-15.6269	20.3396	0.98756	0.0:1.0:0.0:0.0	.	103	Q96RJ0	TAAR1_HUMAN	N	103	ENSP00000275216:D103N	ENSP00000275216:D103N	D	-	1	0	TAAR1	133008529	0.999000	0.42202	0.609000	0.28983	0.915000	0.54546	4.671000	0.61590	2.812000	0.96745	0.555000	0.69702	GAC	TAAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042259.1		-	ENST00000275216.1	Missense_Mutation	SNP	6 : 132966836 - 132966836 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	325	53
ODF2	4957	broad.mit.edu	37	9	131243904	131243904	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131243904C>T	ENST00000434106.3	+	9	1252	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L	ODF2_ENST00000535026.1_3'UTR|ODF2_ENST00000372791.3_Silent_p.L278L|ODF2_ENST00000546203.1_Silent_p.L278L|ODF2_ENST00000444119.2_Silent_p.L273L|ODF2_ENST00000393533.2_Silent_p.L297L|ODF2_ENST00000372814.3_Silent_p.L341L|ODF2_ENST00000448249.3_Silent_p.L216L|ODF2_ENST00000604420.1_Silent_p.L297L|ODF2_ENST00000393527.3_Silent_p.L273L|ODF2_ENST00000372807.5_Silent_p.L292L|ODF2_ENST00000351030.3_Silent_p.L292L	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	NA					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GCTGAAACGGCTGGCGGAGGC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	89	91			NA	NA	9		NA											NA				131243904		2203	4300	6503	SO:0001819	synonymous_variant			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811	4957	4957			8114	protein-coding gene	gene with protein product	cancer/testis antigen 134	602015	outer dense fibre of sperm tails 2		NA	9045620, 10072582	Standard		NM_153435	NA	Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.889C>T	9.37:g.131243904C>T		NA	B4DRK4|B4DZ02|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	37	CCDS56588.1																																																																																			ODF2-011	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054449.3		+	ENST00000434106.3	Silent	SNP	9 : 131243904 - 131243904 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	288	34
LTA4H	4048	broad.mit.edu	37	12	96412999	96412999	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:96412999A>G	ENST00000228740.2	-	7	799	c.658T>C	c.(658-660)Ttg>Ctg	p.L220L	LTA4H_ENST00000413268.2_Silent_p.L196L|LTA4H_ENST00000552789.1_Silent_p.L196L	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	220					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						GACCACACCAAAGTTCTTGGG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	100	100			NA	NA	12		NA											NA				96412999		2203	4300	6503	SO:0001819	synonymous_variant			BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	4048	4048	3.3.2.6		6710	protein-coding gene	gene with protein product		151570			NA	7628486	Standard	NM_000895	NM_000895	NA	Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.658T>C	12.37:g.96412999A>G		NA	B4DNQ9|Q6IAT6|Q9UCT7	37	CCDS9059.1																																																																																			LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408655.1		-	ENST00000228740.2	Silent	SNP	12 : 96412999 - 96412999 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	464	88
SFI1	9814	broad.mit.edu	37	22	32003945	32003945	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32003945C>A	ENST00000432498.1	+	21	2480	c.2087C>A	c.(2086-2088)gCt>gAt	p.A696D	SFI1_ENST00000443326.1_Missense_Mutation_p.A645D|SFI1_ENST00000443011.1_Missense_Mutation_p.A574D|SFI1_ENST00000414585.1_Missense_Mutation_p.A574D|SFI1_ENST00000400288.2_Missense_Mutation_p.A727D|SFI1_ENST00000540643.1_Missense_Mutation_p.A672D|SFI1_ENST00000400289.1_Missense_Mutation_p.A645D	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	727					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TGGCGGGAAGCTGTGTCAGTG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	54	52			NA	NA	22		NA											NA				32003945		2071	4211	6282	SO:0001583	missense			AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089	9814	9814			29064	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 139	612765			NA	14504268	Standard	NM_014775	NM_001007467	NA	Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000432498.1:c.2087C>A	22.37:g.32003945C>A	ENSP00000402679:p.Ala696Asp	NA	A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	37	CCDS43005.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.644410	0.29246	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288;ENST00000417682	T;T;T;T;T;T;T;T	0.16073	2.92;2.92;2.75;2.77;2.77;2.75;2.92;2.37	5.08	1.67	0.24075	.	0.464849	0.24111	N	0.041452	T	0.09555	0.0235	N	0.08118	0	0.09310	N	1	P;P;B;P;P	0.46987	0.888;0.773;0.302;0.789;0.573	P;B;B;P;B	0.47915	0.561;0.3;0.109;0.48;0.3	T	0.12268	-1.0554	10	0.62326	D	0.03	.	2.7705	0.05333	0.2125:0.4995:0.0:0.2879	.	672;633;645;696;727	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3	.;.;.;.;SFI1_HUMAN	D	696;672;645;574;574;645;727;310	ENSP00000402679:A696D;ENSP00000443025:A672D;ENSP00000416469:A645D;ENSP00000397148:A574D;ENSP00000401199:A574D;ENSP00000383146:A645D;ENSP00000383145:A727D;ENSP00000398871:A310D	ENSP00000383145:A727D	A	+	2	0	SFI1	30333945	0.020000	0.18652	0.144000	0.22314	0.059000	0.15707	-0.020000	0.12525	0.138000	0.18790	-1.288000	0.01363	GCT	SFI1-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075103.4		+	ENST00000432498.1	Missense_Mutation	SNP	22 : 32003945 - 32003945 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	203	28
TAF1B	9014	broad.mit.edu	37	2	10051681	10051681	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10051681A>G	ENST00000263663.5	+	11	1363	c.1175A>G	c.(1174-1176)aAa>aGa	p.K392R	TAF1B_ENST00000396242.3_Missense_Mutation_p.K137R	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	392					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GAAAAGAACAAAAAAGGTATT	0.249		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	30	30			NA	NA	2		NA											NA				10051681		2176	4251	6427	SO:0001583	missense			L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750	9014	9014			11533	protein-coding gene	gene with protein product		604904	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD		NA	7801123	Standard	NM_005680	NM_005680	NA	Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.1175A>G	2.37:g.10051681A>G	ENSP00000263663:p.Lys392Arg	NA	Q15574|Q8WVC3	37	CCDS33143.1	.	.	.	.	.	.	.	.	.	.	A	12.15	1.851969	0.32699	.	.	ENSG00000115750	ENST00000263663;ENST00000396242	T;T	0.15017	2.65;2.46	4.94	3.73	0.42828	.	0.556803	0.20552	N	0.090085	T	0.13884	0.0336	L	0.41824	1.3	0.29256	N	0.871621	B;B	0.18461	0.028;0.011	B;B	0.16289	0.01;0.015	T	0.13872	-1.0493	9	.	.	.	-6.2759	10.5333	0.44990	0.9209:0.0:0.0791:0.0	.	392;392	Q53T94;Q53T94-2	TAF1B_HUMAN;.	R	392;137	ENSP00000263663:K392R;ENSP00000379542:K137R	.	K	+	2	0	TAF1B	9969132	1.000000	0.71417	0.509000	0.27700	0.952000	0.60782	1.432000	0.34936	0.684000	0.31448	0.482000	0.46254	AAA	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323426.2		+	ENST00000263663.5	Missense_Mutation	SNP	2 : 10051681 - 10051681 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	159	27
ZYG11B	79699	broad.mit.edu	37	1	53262444	53262444	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53262444C>T	ENST00000294353.6	+	8	1618	c.1473C>T	c.(1471-1473)ctC>ctT	p.L491L	ZYG11B_ENST00000545132.1_Silent_p.L491L|ZYG11B_ENST00000443756.2_Silent_p.L491L	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	491							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						GTACTGAGCTCTTCATTGTCA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	132	136			NA	NA	1		NA											NA				53262444		2203	4300	6503	SO:0001819	synonymous_variant			AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378	79699	79699		ZYG11 cell cycle regulator family	25820	protein-coding gene	gene with protein product			zyg-11 homolog (C. elegans), zyg-11 homolog B (C. elegans)	ZYG11	NA	11214970	Standard	NM_024646	NM_024646	NA	Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.1473C>T	1.37:g.53262444C>T		NA	Q8N2X3|Q9H8L8	37	CCDS30717.1																																																																																			ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000024749.1		+	ENST00000294353.6	Silent	SNP	1 : 53262444 - 53262444 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	74
INTS8	55656	broad.mit.edu	37	8	95869141	95869141	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95869141C>T	ENST00000523731.1	+	15	2022	c.1889C>T	c.(1888-1890)gCa>gTa	p.A630V	INTS8_ENST00000447247.1_Missense_Mutation_p.A630V|INTS8_ENST00000520845.1_3'UTR	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	630					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					ACAGGGCAGGCAGGAGAGAGA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	101	104			NA	NA	8		NA											NA				95869141		2203	4300	6503	SO:0001583	missense			AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941	55656	55656			26048	protein-coding gene	gene with protein product		611351	chromosome 8 open reading frame 52	C8orf52	NA	16239144	Standard	NM_017864	NM_017864	NA	Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.1889C>T	8.37:g.95869141C>T	ENSP00000430338:p.Ala630Val	NA	B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	37	CCDS34925.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.99|13.99	2.402040|2.402040	0.42613|0.42613	.|.	.|.	ENSG00000164941|ENSG00000164941	ENST00000523731;ENST00000447247|ENST00000520526	.|.	.|.	.|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.272174|.	0.36134|.	N|.	0.002773|.	T|.	0.37019|.	0.0988|.	N|N	0.14661|0.14661	0.345|0.345	0.20821|0.20821	N|N	0.999848|0.999848	B;B|.	0.13145|.	0.007;0.007|.	B;B|.	0.16289|.	0.015;0.015|.	T|.	0.29822|.	-0.9999|.	9|.	0.54805|.	T|.	0.06|.	-0.7634|-0.7634	19.7866|19.7866	0.96442|0.96442	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	630;630|.	Q75QN2;Q75QN2-2|.	INT8_HUMAN;.|.	V|X	630|452	.|.	ENSP00000343274:A630V|.	A|Q	+|+	2|1	0|0	INTS8|INTS8	95938317|95938317	0.002000|0.002000	0.14202|0.14202	0.414000|0.414000	0.26521|0.26521	0.813000|0.813000	0.45954|0.45954	1.312000|1.312000	0.33574|0.33574	2.756000|2.756000	0.94617|0.94617	0.655000|0.655000	0.94253|0.94253	GCA|CAG	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379794.1		+	ENST00000523731.1	Missense_Mutation	SNP	8 : 95869141 - 95869141 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	536	96
MFSD12	126321	broad.mit.edu	37	19	3547282	3547282	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3547282G>A	ENST00000355415.2	-	6	1180	c.1011C>T	c.(1009-1011)tgC>tgT	p.C337C	MFSD12_ENST00000389395.3_Silent_p.C337C|AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000398558.4_Silent_p.C337C	NM_174983.3	NP_778148.2	Q6NUT3	CS028_HUMAN	major facilitator superfamily domain containing 12	337					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						TCCTCCCAATGCACTTGTTGA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	73	71			NA	NA	19		NA											NA				3547282		2004	4162	6166	SO:0001819	synonymous_variant			AF218008	CCDS42465.1, CCDS74256.1	19p13.3	2012-03-09	2011-11-24	2011-11-24	ENSG00000161091	ENSG00000161091	126321	126321			28299	protein-coding gene	gene with protein product			chromosome 19 open reading frame 28	C19orf28	NA	12477932	Standard	NM_174983	NM_174983	NA	Approved	MGC20700, PP3501	uc002lxw.3	Q6NUT3		ENST00000355415.2:c.1011C>T	19.37:g.3547282G>A		NA	D6W615|Q8N459	37	CCDS42465.1																																																																																			MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452949.2		-	ENST00000355415.2	Silent	SNP	19 : 3547282 - 3547282 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	575	78
CATSPERG	57828	broad.mit.edu	37	19	38855715	38855715	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38855715C>T	ENST00000409235.3	+	22	2686	c.2571C>T	c.(2569-2571)tcC>tcT	p.S857S	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.S817S	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	857					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TGGGTTCATCCGGGCTCTGCT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	81	81			NA	NA	19		NA											NA				38855715		2203	4300	6503	SO:0001819	synonymous_variant			AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338	57828	57828			25243	protein-coding gene	gene with protein product		613452	chromosome 19 open reading frame 15, cation channel, sperm-associated, gamma	C19orf15	NA	19516020	Standard	NM_021185	NM_021185	NA	Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2571C>T	19.37:g.38855715C>T		NA	A6NEG6|Q659E1	37	CCDS12514.2																																																																																			CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330204.1		+	ENST00000409235.3	Silent	SNP	19 : 38855715 - 38855715 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	557	102
DDO	8528	broad.mit.edu	37	6	110729641	110729641	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:110729641T>C	ENST00000368924.3	-	3	276	c.261A>G	c.(259-261)acA>acG	p.T87T	DDO_ENST00000368923.3_Silent_p.T87T	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	59					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		TGTGAATGGGTGTATCTGTAA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	97	99			NA	NA	6		NA											NA				110729641		2203	4300	6503	SO:0001819	synonymous_variant			D89858	CCDS5082.1, CCDS5083.1	6q22.1	2008-02-05			ENSG00000203797	ENSG00000203797	8528	8528	1.4.3.1		2727	protein-coding gene	gene with protein product		124450			NA	9163533	Standard		NM_003649	NA	Approved		uc003puc.3	Q99489	OTTHUMG00000015360	ENST00000368924.3:c.261A>G	6.37:g.110729641T>C		NA	A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552	37	CCDS5082.1																																																																																			DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041796.1		-	ENST00000368924.3	Silent	SNP	6 : 110729641 - 110729641 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	241	48
MYO7B	4648	broad.mit.edu	37	2	128366289	128366289	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128366289C>T	ENST00000409816.2	+	21	2682	c.2650C>T	c.(2650-2652)Ctg>Ttg	p.L884L	MYO7B_ENST00000389524.4_Silent_p.L884L|MYO7B_ENST00000428314.1_Silent_p.L884L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	884	IQ 6.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCAGGCGCCGCTGGTCATCCC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	27	26			NA	NA	2		NA											NA				128366289		2005	4153	6158	SO:0001819	synonymous_variant				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994	4648	4648		Myosins / Myosin superfamily : Class VII	7607	protein-coding gene	gene with protein product		606541			NA	8022818, 8884266	Standard	XM_291001	NM_001080527	NA	Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2650C>T	2.37:g.128366289C>T		NA	Q14786|Q8TEE1	37	CCDS46405.1																																																																																			MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331124.3		+	ENST00000409816.2	Silent	SNP	2 : 128366289 - 128366289 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	171	39
FAM175A	84142	broad.mit.edu	37	4	84390190	84390190	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:84390190T>C	ENST00000321945.7	-	6	699	c.591A>G	c.(589-591)acA>acG	p.T197T	MRPS18C_ENST00000509571.1_Intron|FAM175A_ENST00000506553.1_Silent_p.T148T|FAM175A_ENST00000505489.1_5'UTR	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	197					chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						CTTACCTGTGTGTTTGTACTG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	122	120			NA	NA	4		NA											NA				84390190		2203	4300	6503	SO:0001819	synonymous_variant			AK023676	CCDS3605.2	4q21.23	2008-10-31	2008-07-02	2008-07-02	ENSG00000163322	ENSG00000163322	84142	84142			25829	protein-coding gene	gene with protein product	Abraxas protein	611143	coiled-coil domain containing 98	CCDC98	NA	12975309, 17525340	Standard	NM_139076	NM_139076	NA	Approved	FLJ13614, ABRA1	uc003hou.2	Q6UWZ7	OTTHUMG00000130429	ENST00000321945.7:c.591A>G	4.37:g.84390190T>C		NA	A5JJ07|Q9H8I1|Q9H9N4	37	CCDS3605.2																																																																																			FAM175A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252818.1		-	ENST00000321945.7	Silent	SNP	4 : 84390190 - 84390190 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	677	144
MYCBP2	23077	broad.mit.edu	37	13	77779470	77779470	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77779470C>T	ENST00000544440.2	-	26	3667	c.3650G>A	c.(3649-3651)cGt>cAt	p.R1217H	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.R1255H|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R1217H			O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GGCACTGAAACGTATAGCTTC	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	89	90			NA	NA	13		NA											NA				77779470		2203	4300	6503	SO:0001583	missense			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810	23077	23077			23386	protein-coding gene	gene with protein product		610392	MYC binding protein 2		NA	9689053, 15057823	Standard	NM_015057	NM_015057	NA	Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.3650G>A	13.37:g.77779470C>T	ENSP00000444596:p.Arg1217His	NA	A6NJC6|Q5JSX8|Q5VZN6|Q6PIB6|Q9UQ11|Q9Y6E4	37		.	.	.	.	.	.	.	.	.	.	C	15.96	2.987090	0.53934	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.35973	1.28;1.28;1.28	5.01	4.16	0.48862	PHR (1);	0.071017	0.64402	D	0.000020	T	0.55321	0.1913	M	0.82323	2.585	0.58432	D	0.999996	D	0.76494	0.999	P	0.53689	0.732	T	0.65701	-0.6104	10	0.87932	D	0	.	15.345	0.74330	0.0:0.8595:0.1405:0.0	.	1217	O75592	MYCB2_HUMAN	H	1217;1255;1217	ENSP00000349892:R1217H;ENSP00000384288:R1255H;ENSP00000444596:R1217H	ENSP00000349892:R1217H	R	-	2	0	MYCBP2	76677471	1.000000	0.71417	1.000000	0.80357	0.020000	0.10135	7.484000	0.81180	1.090000	0.41315	-0.310000	0.09108	CGT	MYCBP2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000045326.1		-	ENST00000544440.2	Missense_Mutation	SNP	13 : 77779470 - 77779470 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	505	86
TMEM132D	121256	broad.mit.edu	37	12	129566325	129566325	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:129566325C>T	ENST00000422113.2	-	7	2228	c.1902G>A	c.(1900-1902)gaG>gaA	p.E634E	TMEM132D_ENST00000389441.4_Silent_p.E172E	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	634						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCATCCCAAGCTCCTGCCCCA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	43	44			NA	NA	12		NA											NA				129566325		2203	4299	6502	SO:0001819	synonymous_variant			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952	121256	121256			29411	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 153	611257			NA	11853319, 12966072	Standard	NM_133448	NM_133448	NA	Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1902G>A	12.37:g.129566325C>T		NA	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	37	CCDS9266.1																																																																																			TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399592.1		-	ENST00000422113.2	Silent	SNP	12 : 129566325 - 129566325 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	337	66
PTPRN	5798	broad.mit.edu	37	2	220167053	220167053	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220167053G>A	ENST00000295718.2	-	6	1040	c.800C>T	c.(799-801)cCt>cTt	p.P267L	PTPRN_ENST00000409251.3_Missense_Mutation_p.P267L|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.P177L	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	267					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GGCAGGTGAAGGCCCTGGAAG	0.637		NA											G	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	EXOME	NA	NA	0.0011	SNP								NA				0													23	26	25			NA	NA	2		NA											NA				220167053		2203	4300	6503	SO:0001583	missense				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356	5798	5798		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like	9676	protein-coding gene	gene with protein product		601773			NA	8024693	Standard		NM_001199763	NA	Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.800C>T	2.37:g.220167053G>A	ENSP00000295718:p.Pro267Leu	NA	Q08319|Q53QD6	37	CCDS2440.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.91	1.781115	0.31502	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.03386	3.95;3.98;3.98	4.85	3.97	0.46021	.	0.435749	0.21121	N	0.079803	T	0.03871	0.0109	N	0.24115	0.695	0.39568	D	0.969238	P;B	0.49090	0.919;0.007	P;B	0.47015	0.534;0.004	T	0.53563	-0.8421	10	0.52906	T	0.07	.	6.2459	0.20818	0.2543:0.0:0.7457:0.0	.	267;267	Q6NSL1;Q16849	.;PTPRN_HUMAN	L	267;267;267;177	ENSP00000386638:P267L;ENSP00000295718:P267L;ENSP00000444244:P177L	ENSP00000295718:P267L	P	-	2	0	PTPRN	219875297	0.998000	0.40836	0.997000	0.53966	0.899000	0.52679	2.115000	0.41921	1.266000	0.44231	0.561000	0.74099	CCT	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256819.2		-	ENST00000295718.2	Missense_Mutation	SNP	2 : 220167053 - 220167053 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	185	33
SPG11	80208	broad.mit.edu	37	15	44855412	44855412	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44855412C>T	ENST00000261866.7	-	40	7255	c.7239G>A	c.(7237-7239)aaG>aaA	p.K2413K	SPG11_ENST00000427534.2_3'UTR|SPG11_ENST00000535302.2_Silent_p.K2300K	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2413					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CGTATGCCAACTTGTAATACA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	121	125			NA	NA	15		NA											NA				44855412		2198	4298	6496	SO:0001819	synonymous_variant				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133	80208	80208			11226	protein-coding gene	gene with protein product	spatacsin	610844	KIAA1840	KIAA1840	NA	10408536, 17322883	Standard		NM_001160227	NA	Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.7239G>A	15.37:g.44855412C>T		NA	A8KAX9|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	37	CCDS10112.1																																																																																			SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253927.1		-	ENST00000261866.7	Silent	SNP	15 : 44855412 - 44855412 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	72
ATP7A	538	broad.mit.edu	37	X	77289223	77289223	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77289223G>T	ENST00000341514.6	+	17	3570	c.3415G>T	c.(3415-3417)Gac>Tac	p.D1139Y	ATP7A_ENST00000350425.4_Missense_Mutation_p.D142Y|ATP7A_ENST00000343533.5_Missense_Mutation_p.D1061Y	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1139					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						GAATATAGAGGACAATAATAT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	115	118			NA	NA	X		NA											NA				77289223		2203	4296	6499	SO:0001583	missense			L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	538	538	3.6.3.4	ATPases / P-type	869	protein-coding gene	gene with protein product	copper pump 1, copper-transporting ATPase 1	300011	Menkes syndrome	MNK	NA	10079817	Standard	NM_000052	NM_000052	NA	Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.3415G>T	X.37:g.77289223G>T	ENSP00000345728:p.Asp1139Tyr	NA	B1AT72|O00227|O00745|Q9BYY8	37	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608886	0.46527	.	.	ENSG00000165240	ENST00000343533;ENST00000350425;ENST00000341514	D;D;D	0.97404	-3.97;-4.37;-3.99	5.27	5.27	0.74061	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.171981	0.50627	D	0.000101	D	0.91905	0.7437	N	0.02011	-0.69	0.33534	D	0.593974	P	0.34864	0.473	B	0.42138	0.377	D	0.94682	0.7866	10	0.62326	D	0.03	-6.7771	13.8071	0.63238	0.0:0.1492:0.8508:0.0	.	1139	Q04656	ATP7A_HUMAN	Y	1061;142;1139	ENSP00000343026:D1061Y;ENSP00000343678:D142Y;ENSP00000345728:D1139Y	ENSP00000345728:D1139Y	D	+	1	0	ATP7A	77175879	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.313000	0.78978	2.311000	0.77944	0.600000	0.82982	GAC	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057306.1		+	ENST00000341514.6	Missense_Mutation	SNP	X : 77289223 - 77289223 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	82
THAP4	51078	broad.mit.edu	37	2	242573285	242573285	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242573285C>T	ENST00000407315.1	-	2	718	c.287G>A	c.(286-288)gGc>gAc	p.G96D		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	96							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GCGGCCATGGCCTCCAGCCCC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	90	89			NA	NA	2		NA											NA				242573285		2203	4296	6499	SO:0001583	missense			AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946	51078	51078		THAP (C2CH-type zinc finger) domain containing	23187	protein-coding gene	gene with protein product		612533			NA	12575992, 10810093	Standard	NM_015963	NM_015963	NA	Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.287G>A	2.37:g.242573285C>T	ENSP00000385006:p.Gly96Asp	NA	Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	37	CCDS2551.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.491997	0.26774	.	.	ENSG00000176946	ENST00000407315	D	0.95518	-3.73	4.93	4.02	0.46733	.	4.361770	0.00654	N	0.000576	D	0.90854	0.7127	N	0.19112	0.55	0.20926	N	0.999825	B	0.10296	0.003	B	0.08055	0.003	T	0.80037	-0.1550	10	0.27785	T	0.31	-16.158	5.5193	0.16923	0.0:0.6659:0.2012:0.1329	.	96	Q8WY91	THAP4_HUMAN	D	96	ENSP00000385006:G96D	ENSP00000385006:G96D	G	-	2	0	THAP4	242221958	0.964000	0.33143	0.122000	0.21767	0.989000	0.77384	1.921000	0.40035	1.142000	0.42291	0.655000	0.94253	GGC	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257267.3		-	ENST00000407315.1	Missense_Mutation	SNP	2 : 242573285 - 242573285 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	908	259
SAMD9L	219285	broad.mit.edu	37	7	92762815	92762815	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92762815C>A	ENST00000318238.4	-	5	3686	c.2470G>T	c.(2470-2472)Gaa>Taa	p.E824*	SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.E824*|SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.E824*	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	824										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AAATCCTTTTCTGCTAAAACG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	77	76			NA	NA	7		NA											NA				92762815		2203	4299	6502	SO:0001587	stop_gained			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409	219285	219285		Sterile alpha motif (SAM) domain containing	1349	protein-coding gene	gene with protein product		611170	chromosome 7 open reading frame 6	C7orf6	NA		Standard	NM_152703	NM_152703	NA	Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.2470G>T	7.37:g.92762815C>A	ENSP00000326247:p.Glu824*	NA	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	37	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	C	45	11.488408	0.99567	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	.	.	.	4.67	1.81	0.25067	.	0.229546	0.35151	N	0.003407	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-3.998	8.6694	0.34140	0.0:0.7387:0.0:0.2613	.	.	.	.	X	824	.	ENSP00000326247:E824X	E	-	1	0	SAMD9L	92600751	0.000000	0.05858	0.005000	0.12908	0.028000	0.11728	0.087000	0.14958	0.190000	0.20209	0.467000	0.42956	GAA	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341730.1		-	ENST00000318238.4	Nonsense_Mutation	SNP	7 : 92762815 - 92762815 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	493	110
NDRG4	65009	broad.mit.edu	37	16	58545414	58545414	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58545414C>A	ENST00000568640.1	+	14	1150	c.1008C>A	c.(1006-1008)gcC>gcA	p.A336A	NDRG4_ENST00000562999.1_Silent_p.A306A|NDRG4_ENST00000394279.2_Silent_p.A350A|NDRG4_ENST00000356752.4_Silent_p.A348A|NDRG4_ENST00000258187.5_Silent_p.A350A|NDRG4_ENST00000570248.1_Silent_p.A331A|NDRG4_ENST00000566192.1_Silent_p.A318A|NDRG4_ENST00000563799.1_Silent_p.A336A|NDRG4_ENST00000569923.1_Silent_p.A263A|NDRG4_ENST00000394282.4_Silent_p.A370A			Q9ULP0	NDRG4_HUMAN	NDRG family member 4	331					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						GCCCACAGGCCTGCACCCACT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	58	59			NA	NA	16		NA											NA				58545414		2198	4297	6495	SO:0001819	synonymous_variant			AB044947	CCDS10797.1, CCDS45500.1, CCDS55999.1, CCDS58465.1, CCDS58466.1, CCDS58467.1	16q21-q22.3	2008-07-04			ENSG00000103034	ENSG00000103034	65009	65009			14466	protein-coding gene	gene with protein product		614463			NA	11352569, 16408304	Standard		NM_020465	NA	Approved	KIAA1180, SMAP-8	uc002enk.3	Q9ULP0	OTTHUMG00000133485	ENST00000568640.1:c.1008C>A	16.37:g.58545414C>A		NA	B3KNU2|Q6ZNE7|Q6ZTI7|Q96PL9|Q9GZM1|Q9GZN3|Q9GZX0	37	CCDS58465.1																																																																																			NDRG4-006	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000422667.3		+	ENST00000568640.1	Silent	SNP	16 : 58545414 - 58545414 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	538	129
ZNF831	128611	broad.mit.edu	37	20	57767471	57767471	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57767471C>T	ENST00000371030.2	+	1	1397	c.1397C>T	c.(1396-1398)gCc>gTc	p.A466V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	466						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGTAGGAGGGCCCCGGGCCCC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	40	38			NA	NA	20		NA											NA				57767471		2014	4164	6178	SO:0001583	missense			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203	128611	128611			16167	protein-coding gene	gene with protein product			chromosome 20 open reading frame 174	C20orf174	NA		Standard	NM_178457	NM_178457	NA	Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1397C>T	20.37:g.57767471C>T	ENSP00000360069:p.Ala466Val	NA	Q5TDR4|Q8TCP0	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.660601	0.29515	.	.	ENSG00000124203	ENST00000371030	T	0.05081	3.5	5.21	4.26	0.50523	.	.	.	.	.	T	0.03827	0.0108	N	0.08118	0	0.09310	N	0.999999	B	0.34290	0.447	B	0.26864	0.074	T	0.39820	-0.9595	9	0.59425	D	0.04	-8.9091	12.7072	0.57067	0.0:0.9205:0.0:0.0795	.	466	Q5JPB2	ZN831_HUMAN	V	466	ENSP00000360069:A466V	ENSP00000360069:A466V	A	+	2	0	ZNF831	57200866	0.002000	0.14202	0.044000	0.18714	0.115000	0.19883	1.599000	0.36751	1.187000	0.43000	0.655000	0.94253	GCC	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079916.2		+	ENST00000371030.2	Missense_Mutation	SNP	20 : 57767471 - 57767471 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	457	83
IL10RA	3587	broad.mit.edu	37	11	117869470	117869470	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117869470G>A	ENST00000227752.3	+	7	971	c.851G>A	c.(850-852)cGt>cAt	p.R284H	IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000541785.1_Missense_Mutation_p.R264H|IL10RA_ENST00000545409.1_Missense_Mutation_p.R135H	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	284						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		ATCAGCCAGCGTCCCTCCCCA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	73	79			NA	NA	11		NA											NA				117869470		2200	4296	6496	SO:0001583	missense			U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324	3587	3587		Interleukins and interleukin receptors, CD molecules	5964	protein-coding gene	gene with protein product		146933		IL10R	NA	8120391	Standard		NR_026691	NA	Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.851G>A	11.37:g.117869470G>A	ENSP00000227752:p.Arg284His	NA	A8K6I0|B0YJ27	37	CCDS8388.1	.	.	.	.	.	.	.	.	.	.	G	9.692	1.152097	0.21371	.	.	ENSG00000110324	ENST00000227752;ENST00000541785;ENST00000545409;ENST00000536858	T;T;T	0.24538	1.85;1.85;1.85	5.26	-3.16	0.05217	.	4.015810	0.00166	N	0.000015	T	0.15046	0.0363	N	0.22421	0.69	0.09310	N	1	D;D	0.57571	0.98;0.965	P;B	0.44597	0.454;0.266	T	0.21314	-1.0249	10	0.15499	T	0.54	-0.0195	1.5109	0.02496	0.1162:0.2378:0.2516:0.3945	.	264;284	F5GYV8;Q13651	.;I10R1_HUMAN	H	284;264;135;264	ENSP00000227752:R284H;ENSP00000441397:R264H;ENSP00000443019:R135H	ENSP00000227752:R284H	R	+	2	0	IL10RA	117374680	0.000000	0.05858	0.000000	0.03702	0.289000	0.27227	-1.174000	0.03105	-0.149000	0.11215	-0.457000	0.05445	CGT	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390167.1		+	ENST00000227752.3	Missense_Mutation	SNP	11 : 117869470 - 117869470 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	341	62
RELN	5649	broad.mit.edu	37	7	103138291	103138291	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103138291G>A	ENST00000428762.1	-	55	9085	c.8926C>T	c.(8926-8928)Ctg>Ttg	p.L2976L	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Silent_p.L2976L|RELN_ENST00000424685.2_Silent_p.L2976L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2976					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)		TAGTCCAACAGCACGCCTTCC	0.527		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													114	89	97			NA	NA	7		NA											NA				103138291		2203	4300	6503	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.8926C>T	7.37:g.103138291G>A		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 : 103138291 - 103138291 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	288	38
ZIM3	114026	broad.mit.edu	37	19	57646919	57646919	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57646919C>T	ENST00000269834.1	-	5	1171	c.786G>A	c.(784-786)tgG>tgA	p.W262*		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGGATGATTTCCAGGAAAAGG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	117	118			NA	NA	19		NA											NA				57646919		2203	4300	6503	SO:0001587	stop_gained			AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946	NA	114026		Zinc fingers, C2H2-type, -	16366	protein-coding gene	gene with protein product					NA		Standard		NM_052882	NA	Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.786G>A	19.37:g.57646919C>T	ENSP00000269834:p.Trp262*	NA	Q14CA6	37	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389830	0.82902	.	.	ENSG00000141946	ENST00000269834	.	.	.	2.53	-2.56	0.06268	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	7.3943	0.26927	0.0:0.2886:0.0:0.7114	.	.	.	.	X	262	.	ENSP00000269834:W262X	W	-	3	0	ZIM3	62338731	0.000000	0.05858	0.148000	0.22405	0.499000	0.33736	-2.059000	0.01393	-0.357000	0.08175	0.313000	0.20887	TGG	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465078.1		-	ENST00000269834.1	Nonsense_Mutation	SNP	19 : 57646919 - 57646919 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	660	136
NMRK1	54981	broad.mit.edu	37	9	77692434	77692434	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77692434C>T	ENST00000376811.1	-	4	566	c.104G>A	c.(103-105)aGt>aAt	p.S35N	NMRK1_ENST00000376808.4_Missense_Mutation_p.S31N|NMRK1_ENST00000361092.4_Missense_Mutation_p.S31N			Q9NWW6	NRK1_HUMAN	nicotinamide riboside kinase 1	31					pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|ribosylnicotinamide kinase activity				NA						AGATATGACACTGCAATTTGG	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	121	124			NA	NA	9		NA											NA				77692434		2203	4300	6503	SO:0001583	missense			AK097144	CCDS6650.1, CCDS47981.1	9q21.31	2012-03-30	2012-03-30	2012-03-30	ENSG00000106733	ENSG00000106733	54981	54981			26057	protein-coding gene	gene with protein product		608704	chromosome 9 open reading frame 95	C9orf95	NA	15137942	Standard	NM_017881	NM_017881	NA	Approved	FLJ20559, NRK1, bA235O14.2	uc004ajr.4	Q9NWW6	OTTHUMG00000020034	ENST00000376811.1:c.104G>A	9.37:g.77692434C>T	ENSP00000366007:p.Ser35Asn	NA	Q5W124|Q8N430	37		.	.	.	.	.	.	.	.	.	.	C	13.60	2.284524	0.40394	.	.	ENSG00000106733	ENST00000376811;ENST00000376794;ENST00000361092;ENST00000376808	T;T;T	0.46063	0.88;0.88;0.92	6.06	4.22	0.49857	.	0.265604	0.43110	D	0.000602	T	0.31949	0.0813	L	0.48642	1.525	0.28755	N	0.901238	P;P;B	0.36282	0.546;0.544;0.149	B;B;B	0.33690	0.168;0.113;0.048	T	0.14615	-1.0466	10	0.18710	T	0.47	-6.1292	10.2096	0.43132	0.0:0.6725:0.2572:0.0702	.	31;35;31	Q9NWW6-2;Q5W125;Q9NWW6	.;.;NRK1_HUMAN	N	35;35;31;31	ENSP00000366007:S35N;ENSP00000354387:S31N;ENSP00000366004:S31N	ENSP00000354387:S31N	S	-	2	0	C9orf95	76882254	0.911000	0.30947	0.995000	0.50966	0.859000	0.49053	1.727000	0.38095	0.899000	0.36444	-0.136000	0.14681	AGT	NMRK1-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000052706.1		-	ENST00000376811.1	Missense_Mutation	SNP	9 : 77692434 - 77692434 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	399	79
TMCC1	23023	broad.mit.edu	37	3	129389812	129389812	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129389812G>A	ENST00000432054.2	-	0	851				TMCC1_ENST00000426664.2_Missense_Mutation_p.T177I|TMCC1_ENST00000393238.3_Missense_Mutation_p.T291I|TMCC1_ENST00000329333.5_Missense_Mutation_p.T112I			O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	NA						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGGAGGATAGTTTGGGCAGA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	145	148			NA	NA	3		NA											NA				129389812		2203	4300	6503	SO:0001623	5_prime_UTR_variant			AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765	23023	23023		Transmembrane and coiled-coil domain containing	29116	protein-coding gene	gene with protein product			transmembrane and coiled-coil domains 1		NA	9872452	Standard	NM_015008	NR_033361	NA	Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000432054.2:c.-101C>T	3.37:g.129389812G>A		NA	Q68E06|Q8IXM8	37		.	.	.	.	.	.	.	.	.	.	G	17.32	3.360066	0.61403	.	.	ENSG00000172765	ENST00000393238;ENST00000426664;ENST00000329333	T;T;T	0.49139	0.79;0.79;0.79	5.56	5.56	0.83823	.	0.133374	0.64402	N	0.000002	T	0.65450	0.2692	M	0.65975	2.015	0.52099	D	0.999945	D;D	0.61080	0.989;0.96	D;P	0.71656	0.974;0.761	T	0.63247	-0.6680	10	0.42905	T	0.14	-16.8923	14.6945	0.69110	0.0:0.0:0.8549:0.1451	.	112;291	B4DE04;O94876	.;TMCC1_HUMAN	I	291;177;112	ENSP00000376930:T291I;ENSP00000389892:T177I;ENSP00000327349:T112I	ENSP00000327349:T112I	T	-	2	0	TMCC1	130872502	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.208000	0.65203	2.778000	0.95560	0.591000	0.81541	ACT	TMCC1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000356323.4		-	ENST00000432054.2	5'UTR	SNP	3 : 129389812 - 129389812 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	638	154
NRBP1	29959	broad.mit.edu	37	2	27664444	27664444	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27664444C>T	ENST00000233557.3	+	18	2290	c.1458C>T	c.(1456-1458)atC>atT	p.I486I	NRBP1_ENST00000379852.3_Silent_p.I486I|NRBP1_ENST00000379863.3_Silent_p.I494I			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	486					ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ATGAGAATATCCCCGAGTTGG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	136	139			NA	NA	2		NA											NA				27664444		2203	4300	6503	SO:0001819	synonymous_variant			AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216	29959	29959			7993	protein-coding gene	gene with protein product		606010	nuclear receptor binding protein	NRBP	NA	10843813, 11956649	Standard	NM_013392	NM_013392	NA	Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.1458C>T	2.37:g.27664444C>T		NA	B3KV40|D6W558|Q53FZ5|Q96SU3	37	CCDS1753.1																																																																																			NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000215033.1		+	ENST00000233557.3	Silent	SNP	2 : 27664444 - 27664444 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	732	221
WDR90	197335	broad.mit.edu	37	16	702503	702503	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:702503G>A	ENST00000549091.1	+	10	1182	c.1090G>A	c.(1090-1092)Gtc>Atc	p.V364I	WDR90_ENST00000293879.4_Missense_Mutation_p.V364I	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	364										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GCTCAAGGGCGTCATCGGCTT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	67	64			NA	NA	16		NA											NA				702503		2067	4208	6275	SO:0001583	missense			AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996	197335	197335		WD repeat domain containing	26960	protein-coding gene	gene with protein product			chromosome 16 open reading frame 17, chromosome 16 open reading frame 15, chromosome 16 open reading frame 16, chromosome 16 open reading frame 19, chromosome 16 open reading frame 18	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18	NA	11572484, 11157797	Standard	NM_145294	XM_005255160	NA	Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000549091.1:c.1090G>A	16.37:g.702503G>A	ENSP00000448122:p.Val364Ile	NA	Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	37		.	.	.	.	.	.	.	.	.	.	G	5.575	0.290873	0.10567	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.01335	5.0;5.0	4.75	1.72	0.24424	.	0.207319	0.30473	U	0.009546	T	0.01061	0.0035	L	0.39245	1.2	0.35522	D	0.801523	B;B;B	0.32781	0.015;0.016;0.384	B;B;B	0.19148	0.012;0.005;0.024	T	0.52320	-0.8591	10	0.08381	T	0.77	.	7.5264	0.27658	0.3546:0.0:0.6454:0.0	.	364;365;364	Q96KV7;C9JMK1;Q96KV7-3	WDR90_HUMAN;.;.	I	364	ENSP00000448122:V364I;ENSP00000293879:V364I	ENSP00000293879:V364I	V	+	1	0	WDR90	642504	0.884000	0.30299	0.383000	0.26132	0.644000	0.38419	2.143000	0.42187	0.458000	0.26988	-0.221000	0.12465	GTC	WDR90-001	NOVEL	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000109343.3		+	ENST00000549091.1	Missense_Mutation	SNP	16 : 702503 - 702503 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	459	85
LRRN4	164312	broad.mit.edu	37	20	6022592	6022592	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:6022592C>T	ENST00000378858.4	-	5	1523	c.1299G>A	c.(1297-1299)acG>acA	p.T433T		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	433						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CAGAGTTGGTCGTGGAGGGGG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	82	84			NA	NA	20		NA											NA				6022592		2203	4300	6503	SO:0001819	synonymous_variant			AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872	164312	164312		Fibronectin type III domain containing	16208	protein-coding gene	gene with protein product			chromosome 20 open reading frame 75	C20orf75	NA	15870286	Standard	NM_152611	NM_152611	NA	Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.1299G>A	20.37:g.6022592C>T		NA	A8K258|Q5JWV6|Q9H419	37	CCDS13097.1																																																																																			LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077907.2		-	ENST00000378858.4	Silent	SNP	20 : 6022592 - 6022592 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	87
ZNF780A	284323	broad.mit.edu	37	19	40581425	40581425	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40581425C>T	ENST00000450241.2	-	6	1133	c.822G>A	c.(820-822)aaG>aaA	p.K274K	ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Silent_p.K309K|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Silent_p.K309K|ZNF780A_ENST00000340963.5_Silent_p.K308K|ZNF780A_ENST00000595687.2_Silent_p.K308K			O75290	Z780A_HUMAN	zinc finger protein 780A	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K274N(1)|p.K309N(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCCCACATTCCTTACATACAA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(2)											174	169	171			NA	NA	19		NA											NA				40581425		2203	4300	6503	SO:0001819	synonymous_variant			AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782	284323	284323		Zinc fingers, C2H2-type, -	27603	protein-coding gene	gene with protein product					NA		Standard	NM_001010880	NM_001142577	NA	Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000450241.2:c.822G>A	19.37:g.40581425C>T		NA	Q6ZN87	37																																																																																				ZNF780A-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000338467.2		-	ENST00000450241.2	Silent	SNP	19 : 40581425 - 40581425 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	959	183
TNFSF8	944	broad.mit.edu	37	9	117692528	117692528	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117692528G>T	ENST00000223795.2	-	1	169	c.56C>A	c.(55-57)gCc>gAc	p.A19D		NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	19					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						CACATGCATGGCTGTGTCTCC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	83	82			NA	NA	9		NA											NA				117692528		2203	4300	6503	SO:0001583	missense			L09753	CCDS6810.1, CCDS75884.1	9q33	2008-02-05			ENSG00000106952	ENSG00000106952	944	944		Tumor necrosis factor (ligand) superfamily, CD molecules	11938	protein-coding gene	gene with protein product		603875		CD30LG	NA	8391931, 9349718	Standard		NM_001244	NA	Approved	CD153	uc004bji.2	P32971	OTTHUMG00000021025	ENST00000223795.2:c.56C>A	9.37:g.117692528G>T	ENSP00000223795:p.Ala19Asp	NA	O43404	37	CCDS6810.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.309749	0.23821	.	.	ENSG00000106952	ENST00000223795	.	.	.	5.46	4.57	0.56435	.	0.205833	0.33875	N	0.004480	T	0.50599	0.1625	L	0.32530	0.975	0.46131	D	0.998883	P	0.50443	0.935	P	0.50490	0.642	T	0.54549	-0.8277	9	0.87932	D	0	-12.895	11.6842	0.51476	0.0822:0.0:0.9178:0.0	.	19	P32971	TNFL8_HUMAN	D	19	.	ENSP00000223795:A19D	A	-	2	0	TNFSF8	116732349	1.000000	0.71417	1.000000	0.80357	0.032000	0.12392	3.109000	0.50345	1.306000	0.44926	0.544000	0.68410	GCC	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055464.1		-	ENST00000223795.2	Missense_Mutation	SNP	9 : 117692528 - 117692528 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	732	122
YAP1	10413	broad.mit.edu	37	11	102033283	102033283	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102033283T>C	ENST00000524575.1	+	3	580	c.135T>C	c.(133-135)aaT>aaC	p.N45N	YAP1_ENST00000282441.5_Silent_p.N223N|YAP1_ENST00000531439.1_Silent_p.N223N|YAP1_ENST00000537274.1_Silent_p.N223N|YAP1_ENST00000345877.2_Silent_p.N223N|YAP1_ENST00000526343.1_Silent_p.N223N	NM_001195045.1	NP_001181974.1	P46937	YAP1_HUMAN	Yes-associated protein 1	223	Pro-rich.				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		TGCAGCAGAATATGATGAACT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(50;247 1103 7861 28956)							NA				0													162	152	155			NA	NA	11		NA											NA				102033283		2203	4299	6502	SO:0001819	synonymous_variant				CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1	11q13	2010-03-19	2010-03-19		ENSG00000137693	ENSG00000137693	10413	10413			16262	protein-coding gene	gene with protein product		606608	Yes-associated protein 1, 65kDa		NA	7782338	Standard	NM_006106	NM_001130145	NA	Approved	YAP65	uc001pgt.3	P46937	OTTHUMG00000167322	ENST00000524575.1:c.135T>C	11.37:g.102033283T>C		NA	Q7Z574|Q8IUY9	37	CCDS53700.1																																																																																			YAP1-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394153.1		+	ENST00000524575.1	Silent	SNP	11 : 102033283 - 102033283 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	738	182
SOX7	83595	broad.mit.edu	37	8	10583423	10583423	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10583423T>C	ENST00000304501.1	-	2	1070	c.992A>G	c.(991-993)gAa>gGa	p.E331G	SOX7_ENST00000553390.1_Missense_Mutation_p.E383G|SOX7_ENST00000554914.1_Missense_Mutation_p.E383G	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	331	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		CTGGTCGAATTCATTGCGATC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	85	89			NA	NA	8		NA											NA				10583423		2203	4300	6503	SO:0001583	missense			AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056	83595	83595		SRY (sex determining region Y)-boxes	18196	protein-coding gene	gene with protein product		612202			NA	11691915	Standard		NM_031439	NA	Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.992A>G	8.37:g.10583423T>C	ENSP00000301921:p.Glu331Gly	NA	Q53YD0	37	CCDS5977.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.280179	0.80692	.	.	ENSG00000171056;ENSG00000171056;ENSG00000258724	ENST00000304501;ENST00000553390;ENST00000554914	D;D;D	0.89875	-2.58;-2.58;-2.58	4.64	4.64	0.57946	.	0.000000	0.85682	U	0.000000	D	0.94676	0.8283	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.95429	0.8514	10	0.87932	D	0	.	13.3977	0.60863	0.0:0.0:0.0:1.0	.	383;331	B4DKV0;Q9BT81	.;SOX7_HUMAN	G	331;383;383	ENSP00000301921:E331G;ENSP00000452017:E383G;ENSP00000451145:E383G	ENSP00000346908:E383G	E	-	2	0	SOX7;CTD-2135J3.4	10620833	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.809000	0.86057	1.932000	0.55993	0.459000	0.35465	GAA	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207131.1		-	ENST00000304501.1	Missense_Mutation	SNP	8 : 10583423 - 10583423 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	57
PRDM14	63978	broad.mit.edu	37	8	70978553	70978553	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70978553C>T	ENST00000276594.2	-	5	1301	c.1100G>A	c.(1099-1101)gGa>gAa	p.G367E		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	367	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			ATAGCAGTCTCCATACCACAC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(129;99 1813 5906 40656 46114)							NA				0													92	91	92			NA	NA	8		NA											NA				70978553		2203	4300	6503	SO:0001583	missense			AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596	63978	63978		Zinc fingers, C2H2-type	14001	protein-coding gene	gene with protein product		611781			NA		Standard		NM_024504	NA	Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.1100G>A	8.37:g.70978553C>T	ENSP00000276594:p.Gly367Glu	NA	Q86UX9	37	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.899578	0.91962	.	.	ENSG00000147596	ENST00000276594	D	0.86627	-2.15	5.62	5.62	0.85841	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.95201	0.8444	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95552	0.8621	10	0.66056	D	0.02	-13.0938	19.6488	0.95793	0.0:1.0:0.0:0.0	.	367	Q9GZV8	PRD14_HUMAN	E	367	ENSP00000276594:G367E	ENSP00000276594:G367E	G	-	2	0	PRDM14	71141107	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.481000	0.81124	2.637000	0.89404	0.561000	0.74099	GGA	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318505.1		-	ENST00000276594.2	Missense_Mutation	SNP	8 : 70978553 - 70978553 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	417	87
TTN	7273	broad.mit.edu	37	2	179550287	179550287	+	Silent	SNP	G	G	A	rs72650029	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179550287G>A	ENST00000589042.1	-	128	32574	c.32350C>T	c.(32350-32352)Ctg>Ttg	p.L10784L	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.L9540L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.L10467L|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10467	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAATGTGCAGCTTTTCTTCC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	110	111			NA	NA	2		NA											NA				179550287		1902	4115	6017	SO:0001819	synonymous_variant			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.32350C>T	2.37:g.179550287G>A		NA	E7ET18	37	CCDS59435.1																																																																																			TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Silent	SNP	2 : 179550287 - 179550287 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	160	34
CDK14	5218	broad.mit.edu	37	7	90741870	90741870	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:90741870A>G	ENST00000406263.1	+	12	1472	c.1030A>G	c.(1030-1032)Aac>Gac	p.N344D	CDK14_ENST00000380050.3_Missense_Mutation_p.N390D|CDK14_ENST00000436577.2_Missense_Mutation_p.N261D|CDK14_ENST00000265741.3_Missense_Mutation_p.N372D			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	390	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						CAGCTATGTGAACCATGCAGA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(83;1228 1256 8311 16577 31299)							NA				0													134	142	139			NA	NA	7		NA											NA				90741870		2203	4300	6503	SO:0001583	missense				CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091	5218	5218		Cyclin-dependent kinases	8883	protein-coding gene	gene with protein product		610679	PFTAIRE protein kinase 1	PFTK1	NA	9202329, 11313143, 19884882	Standard	NM_012395	XM_005250436	NA	Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000406263.1:c.1030A>G	7.37:g.90741870A>G	ENSP00000385034:p.Asn344Asp	NA	A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	37		.	.	.	.	.	.	.	.	.	.	A	9.628	1.135592	0.21123	.	.	ENSG00000058091	ENST00000380050;ENST00000265741;ENST00000406263;ENST00000436577	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.97	3.61	0.41365	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.057435	0.64402	D	0.000003	T	0.39989	0.1099	N	0.11724	0.165	0.39852	D	0.973252	B;B;B	0.09022	0.002;0.0;0.002	B;B;B	0.12156	0.007;0.001;0.007	T	0.21965	-1.0230	10	0.35671	T	0.21	-17.852	7.7303	0.28783	0.8074:0.0:0.0671:0.1255	.	261;372;390	E7EUK8;O94921-2;O94921	.;.;CDK14_HUMAN	D	390;372;344;261	ENSP00000369390:N390D;ENSP00000265741:N372D;ENSP00000385034:N344D;ENSP00000398936:N261D	ENSP00000265741:N372D	N	+	1	0	CDK14	90579806	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.179000	0.65043	1.056000	0.40484	0.533000	0.62120	AAC	CDK14-003	PUTATIVE	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000140390.3		+	ENST00000406263.1	Missense_Mutation	SNP	7 : 90741870 - 90741870 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1047	199
ADAM21	8747	broad.mit.edu	37	14	70926319	70926319	+	Silent	SNP	C	C	T	rs142273524	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70926319C>T	ENST00000603540.1	+	2	2361	c.2103C>T	c.(2101-2103)gtC>gtT	p.V701V	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Silent_p.V701V	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	701					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGTTTACTGTCGGGCTTCTTA	0.413		NA											c	1	5e-04	0.002	NA	2184	NA	0.9999	,	,	NA	2e-04	NA	NA	NA	5e-04	0.9181	EXOME	NA	NA	4e-04	SNP								NA				0								T		6,4400	11.4+/-27.6	0,6,2197	81	74	77		2103	-2.4	0	14	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous	ADAM21	NM_003813.3		0,6,6497	TT,TC,CC	NA	0.0,0.1362,0.0461		701/723	70926319	6,13000	2203	4300	6503	SO:0001819	synonymous_variant			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985	8747	8747		ADAM metallopeptidase domain containing	200	protein-coding gene	gene with protein product		603713	a disintegrin and metalloproteinase domain 21		NA	9469942	Standard		NM_003813	NA	Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.2103C>T	14.37:g.70926319C>T		NA	O43507|Q2VPC6|Q32MR0	37	CCDS9804.1																																																																																			ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413008.3		+	ENST00000603540.1	Silent	SNP	14 : 70926319 - 70926319 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	480	88
COL28A1	340267	broad.mit.edu	37	7	7483263	7483263	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:7483263C>A	ENST00000399429.3	-	20	1743	c.1603G>T	c.(1603-1605)Gca>Tca	p.A535S		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	535	Collagen-like 4.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GGGCCTCTTGCTCCCGGAAGC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	76	77			NA	NA	7		NA											NA				7483263		1936	4155	6091	SO:0001583	missense			AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018	340267	340267		Collagens	22442	protein-coding gene	gene with protein product		609996			NA	16330543	Standard	NM_001037763	NM_001037763	NA	Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.1603G>T	7.37:g.7483263C>A	ENSP00000382356:p.Ala535Ser	NA	A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	37	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	C	4.153	0.026728	0.08054	.	.	ENSG00000215018	ENST00000399429;ENST00000399419	D	0.93426	-3.22	4.93	-4.71	0.03279	.	1.289190	0.05636	U	0.582550	D	0.82323	0.5012	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.27882	0.073;0.005;0.192	B;B;B	0.28638	0.055;0.01;0.092	T	0.70880	-0.4752	10	0.10111	T	0.7	0.9378	14.3921	0.66986	0.0:0.7642:0.0:0.2358	.	535;535;535	Q2UY09-2;B5MDS6;Q2UY09	.;.;COSA1_HUMAN	S	535	ENSP00000382356:A535S	ENSP00000382347:A535S	A	-	1	0	COL28A1	7449788	0.000000	0.05858	0.058000	0.19502	0.823000	0.46562	-0.681000	0.05191	-0.885000	0.03971	-0.345000	0.07892	GCA	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000315899.1		-	ENST00000399429.3	Missense_Mutation	SNP	7 : 7483263 - 7483263 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	54
PDE4DIP	9659	broad.mit.edu	37	1	144857634	144857634	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144857634C>T	ENST00000530740.1	-	41	6713	c.6675G>A	c.(6673-6675)acG>acA	p.T2225T	PDE4DIP_ENST00000369356.4_Silent_p.T2140T|PDE4DIP_ENST00000369354.3_Silent_p.T2140T|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Silent_p.T2034T|PDE4DIP_ENST00000369359.4_Silent_p.T2276T			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2140					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGATTATGGGCGTTTCTGAGC	0.483		NA	T	PDGFRB	MPD									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													256	282	273			NA	NA	1		NA											NA				144857634		2203	4296	6499	SO:0001819	synonymous_variant			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104	9659	9659			15580	protein-coding gene	gene with protein product	myomegalin	608117	cardiomyopathy associated 2	CMYA2	NA	9455484, 11134006	Standard	NM_022359	NM_022359	NA	Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000530740.1:c.6675G>A	1.37:g.144857634C>T		NA	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	37		.	.	.	.	.	.	.	.	.	.	.	10.12	1.261815	0.23051	.	.	ENSG00000178104	ENST00000530130	.	.	.	4.89	-9.79	0.00494	.	.	.	.	.	T	0.04003	0.0112	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.09509	-1.0671	4	.	.	.	.	1.5879	0.02648	0.1528:0.1687:0.3577:0.3208	.	.	.	.	H	217	.	.	R	-	2	0	PDE4DIP	143568991	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-1.813000	0.01725	-3.163000	0.00227	-0.410000	0.06199	CGC	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000384663.2		-	ENST00000530740.1	Silent	SNP	1 : 144857634 - 144857634 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1799	143
HK2	3099	broad.mit.edu	37	2	75094762	75094762	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:75094762G>T	ENST00000409174.1	+	3	332		c.e3-1		HK2_ENST00000290573.2_Splice_Site			P52789	HXK2_HUMAN	hexokinase 2	NA					apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TTTCTCTGCAGAACACGGAGA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													221	237	231			NA	NA	2		NA											NA				75094762		2203	4300	6503	SO:0001630	splice_region_variant				CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	3099	3099	2.7.1.1		4923	protein-coding gene	gene with protein product		601125			NA		Standard	NM_000189	NM_000189	NA	Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000409174.1:c.143-1G>T	2.37:g.75094762G>T		NA	D6W5J2|Q8WU87|Q9UN82	37		.	.	.	.	.	.	.	.	.	.	G	24.6	4.554873	0.86231	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5892	0.84760	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HK2	74948270	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.601000	0.98297	2.785000	0.95823	0.655000	0.94253	.	HK2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000328629.4	Intron	+	ENST00000409174.1	Splice_Site	SNP	2 : 75094762 - 75094762 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2051	348
CRYGB	1419	broad.mit.edu	37	2	209010739	209010739	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:209010739A>G	ENST00000260988.4	-	2	58	c.11T>C	c.(10-12)aTc>aCc	p.I4T		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	4	Beta/gamma crystallin 'Greek key' 1.				visual perception		structural constituent of eye lens			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		GTAGAAGGTGATCTGAAAAAT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	88	91			NA	NA	2		NA											NA				209010739		2203	4300	6503	SO:0001630	splice_region_variant				CCDS2380.1	2q34	2013-02-14			ENSG00000182187	ENSG00000182187	1419	1419			2409	protein-coding gene	gene with protein product		123670	crystallin, gamma 1-2	CRYG2	NA		Standard	NM_005210	NM_005210	NA	Approved		uc002vcp.4	P07316	OTTHUMG00000132941	ENST00000260988.4:c.10-1T>C	2.37:g.209010739A>G		NA	Q17RB5|Q53ST2	37	CCDS2380.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.985896	0.74589	.	.	ENSG00000182187	ENST00000260988	D	0.82255	-1.59	4.62	4.62	0.57501	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.94647	0.8274	H	0.99182	4.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96008	0.8999	10	0.87932	D	0	.	12.2776	0.54744	1.0:0.0:0.0:0.0	.	4	P07316	CRGB_HUMAN	T	4	ENSP00000260988:I4T	ENSP00000260988:I4T	I	-	2	0	CRYGB	208718984	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.107000	0.94261	2.065000	0.61736	0.459000	0.35465	ATC	CRYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256473.2	Missense_Mutation	-	ENST00000260988.4	Splice_Site	SNP	2 : 209010739 - 209010739 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	487	120
CLIP1	6249	broad.mit.edu	37	12	122848584	122848584	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122848584C>T	ENST00000302528.7	-	3	835	c.728G>A	c.(727-729)gGc>gAc	p.G243D	CLIP1_ENST00000358808.2_Missense_Mutation_p.G243D|CLIP1_ENST00000537178.1_Missense_Mutation_p.G243D|CLIP1_ENST00000361654.4_Missense_Mutation_p.G243D|CLIP1_ENST00000540338.1_Missense_Mutation_p.G243D			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	243	CAP-Gly 2.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TAACTCCACGCCACACCACTC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													182	117	139			NA	NA	12		NA											NA				122848584		2203	4300	6503	SO:0001583	missense				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779	6249	6249			10461	protein-coding gene	gene with protein product	restin	179838	restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)	RSN	NA	8222754	Standard	NM_002956	NM_001247997	NA	Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000302528.7:c.728G>A	12.37:g.122848584C>T	ENSP00000303585:p.Gly243Asp	NA	A0AVD3|Q17RS4|Q29RG0	37	CCDS9232.1	.	.	.	.	.	.	.	.	.	.	C	34	5.350966	0.95830	.	.	ENSG00000130779	ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304;ENST00000537004	D;D;D;D;D;D	0.99826	-6.98;-6.98;-6.98;-6.98;-6.98;-6.98	5.81	5.81	0.92471	Cytoskeleton-associated protein, Gly-rich domain (4);Cytoskeleton-associated protein, Gly-rich conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99915	0.9960	H	0.98883	4.36	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96244	0.9178	10	0.87932	D	0	-13.7061	20.0812	0.97776	0.0:1.0:0.0:0.0	.	243;243;243;243	F6VGP8;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	D	243;243;88;243;243;243;243	ENSP00000303585:G243D;ENSP00000351665:G243D;ENSP00000445531:G243D;ENSP00000439093:G243D;ENSP00000437786:G243D;ENSP00000441409:G243D	ENSP00000303585:G243D	G	-	2	0	CLIP1	121414537	1.000000	0.71417	0.999000	0.59377	0.837000	0.47467	7.664000	0.83830	2.752000	0.94435	0.557000	0.71058	GGC	CLIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401619.1		-	ENST00000302528.7	Missense_Mutation	SNP	12 : 122848584 - 122848584 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	245	17
NTRK2	4915	broad.mit.edu	37	9	87338493	87338493	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:87338493C>T	ENST00000304053.6	+	7	1072	c.589C>T	c.(589-591)Cca>Tca	p.P197S	NTRK2_ENST00000395866.2_Missense_Mutation_p.P41S|NTRK2_ENST00000359847.3_Missense_Mutation_p.P197S|NTRK2_ENST00000395882.1_Missense_Mutation_p.P197S|NTRK2_ENST00000323115.4_Missense_Mutation_p.P197S|NTRK2_ENST00000376213.1_Missense_Mutation_p.P197S|NTRK2_ENST00000277120.3_Missense_Mutation_p.P197S|NTRK2_ENST00000376214.1_Missense_Mutation_p.P197S|NTRK2_ENST00000376208.1_Missense_Mutation_p.P197S	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	197	Ig-like C2-type 1.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						CATAGGTTTGCCATCTGCAAA	0.373		NA								TSP Lung(25;0.17)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	134	141			NA	NA	9		NA											NA				87338493		2203	4300	6503	SO:0001583	missense			AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	4915	4915	2.7.10.1	Immunoglobulin superfamily / I-set domain containing	8032	protein-coding gene	gene with protein product		600456			NA	7789988	Standard		NM_001018065	NA	Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000304053.6:c.589C>T	9.37:g.87338493C>T	ENSP00000306167:p.Pro197Ser	NA	B1ANZ4|Q16675|Q8WXJ6	37	CCDS35051.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273442	0.80580	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000395882;ENST00000376208;ENST00000304053;ENST00000277120;ENST00000323115;ENST00000359847;ENST00000395866	D;D;T;T;T;D;D;T;T	0.82081	-1.57;-1.52;-1.32;-1.36;-1.29;-1.57;-1.52;-1.32;-1.24	5.64	5.64	0.86602	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94978	0.8375	H	0.98027	4.13	0.58432	D	0.999998	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	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.96360	0.9265	10	0.87932	D	0	.	19.0504	0.93041	0.0:1.0:0.0:0.0	.	41;197;197;197;197;197;243;197	B4DFV9;Q16620-3;Q16620-5;Q5VWE5;Q16620;Q16620-4;Q59GJ1;Q16620-2	.;.;.;.;NTRK2_HUMAN;.;.;.	S	197;197;197;197;197;197;197;197;41	ENSP00000365387:P197S;ENSP00000365386:P197S;ENSP00000379221:P197S;ENSP00000365381:P197S;ENSP00000306167:P197S;ENSP00000277120:P197S;ENSP00000314586:P197S;ENSP00000352906:P197S;ENSP00000379207:P41S	ENSP00000277120:P197S	P	+	1	0	NTRK2	86528313	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	5.070000	0.64376	2.807000	0.96579	0.591000	0.81541	CCA	NTRK2-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052884.1		+	ENST00000304053.6	Missense_Mutation	SNP	9 : 87338493 - 87338493 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	425	42
FBXO24	26261	broad.mit.edu	37	7	100198522	100198522	+	Nonstop_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100198522A>C	ENST00000241071.6	+	10	2065	c.1743A>C	c.(1741-1743)taA>taC	p.*581Y	FBXO24_ENST00000468962.1_Nonstop_Mutation_p.*569Y|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000360609.2_3'UTR|FBXO24_ENST00000427939.2_Nonstop_Mutation_p.*619Y	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	0						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CTGAGACCTAATCCCCCTCAT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	35	35			NA	NA	7		NA											NA				100198522		2202	4294	6496	SO:0001578	stop_lost			AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336	26261	26261		F-boxes /  other	13595	protein-coding gene	gene with protein product		609097	F-box only protein 24		NA	10531035, 10531037	Standard		NM_012172	NA	Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.1743A>C	7.37:g.100198522A>C	ENSP00000241071:p.*581Tyrext*5	NA	A4D2D4|Q9H0G1	37	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	a	3.521	-0.097685	0.07010	.	.	ENSG00000106336	ENST00000241071;ENST00000468962;ENST00000427939	.	.	.	4.22	4.22	0.49857	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.2759	0.20981	0.8892:0.0:0.1108:0.0	.	.	.	.	Y	581;569;619	.	.	X	+	3	2	FBXO24	100036458	0.991000	0.36638	0.605000	0.28930	0.024000	0.10985	2.719000	0.47244	1.779000	0.52309	0.373000	0.22412	TAA	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356104.1		+	ENST00000241071.6	Nonstop_Mutation	SNP	7 : 100198522 - 100198522 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	483	23
DYRK1B	9149	broad.mit.edu	37	19	40318000	40318000	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40318000C>T	ENST00000593685.1	-	8	1488	c.1020G>A	c.(1018-1020)gcG>gcA	p.A340A	DYRK1B_ENST00000323039.5_Silent_p.A340A|DYRK1B_ENST00000597639.1_Silent_p.A340A|DYRK1B_ENST00000348817.3_Silent_p.A340A|DYRK1B_ENST00000430012.2_Silent_p.A340A			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	340	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GAGCCTTGGGCGCCTGGTCCA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	44	43			NA	NA	19		NA											NA				40318000		2203	4300	6503	SO:0001819	synonymous_variant			Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	9149	9149	2.7.12.1		3092	protein-coding gene	gene with protein product	minibrain-related kinase	604556			NA	9918863	Standard	NM_004714	XM_005259395	NA	Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.1020G>A	19.37:g.40318000C>T		NA	O75258|O75788|O75789	37	CCDS12543.1																																																																																			DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462874.2		-	ENST00000593685.1	Silent	SNP	19 : 40318000 - 40318000 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	378	43
AKAP9	10142	broad.mit.edu	37	7	91643633	91643633	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91643633T>C	ENST00000356239.3	+	10	3836	c.3603T>C	c.(3601-3603)taT>taC	p.Y1201Y	AKAP9_ENST00000359028.2_Silent_p.Y1213Y|AKAP9_ENST00000358100.2_Silent_p.Y1213Y	NM_005751.4|NM_147185.2	NP_005742.4|NP_671714.1	Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1213					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AATGTTCTTATTTTTTACAGG	0.373		NA	T	BRAF	papillary thyroid									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													87	88	88			NA	NA	7		NA											NA				91643633		2203	4300	6503	SO:0001819	synonymous_variant			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914	10142	10142		A-kinase anchor proteins, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	379	protein-coding gene	gene with protein product	A-kinase anchoring protein 450, AKAP9-BRAF fusion protein, AKAP120-like protein, centrosome- and golgi-localized protein kinase N-associated protein, protein kinase A anchoring protein 9, A-kinase anchor protein, 350kDa, protein phosphatase 1, regulatory subunit 45, yotiao	604001			NA	9482789, 10390370, 24475373	Standard	NM_005751	NM_147185	NA	Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000356239.3:c.3603T>C	7.37:g.91643633T>C		NA	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	37	CCDS5622.1																																																																																			AKAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253808.2		+	ENST00000356239.3	Silent	SNP	7 : 91643633 - 91643633 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	154	32
ZKSCAN7	55888	broad.mit.edu	37	3	44612305	44612305	+	Missense_Mutation	SNP	G	G	A	rs147008651	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44612305G>A	ENST00000273320.3	+	6	2132	c.1703G>A	c.(1702-1704)cGa>cAa	p.R568Q	ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.R568Q|RP11-944L7.5_ENST00000419137.1_Intron|RP11-944L7.4_ENST00000457331.1_RNA	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7	NA											NA						TGTCTTATTCGACATCAGAGC	0.428		NA												3	0.0014	0.01	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0014	1	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0													90	90	90			NA	NA	3		NA											NA				44612305		2203	4300	6503	SO:0001583	missense			L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345	55888	55888		Zinc fingers, C2H2-type, -, -, -	12955	protein-coding gene	gene with protein product			zinc finger protein 64, zinc finger protein 448, zinc finger protein 167	ZNF64, ZNF448, ZNF167	NA	7814019, 1505991	Standard	NM_018651	XM_005265323	NA	Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.1703G>A	3.37:g.44612305G>A	ENSP00000273320:p.Arg568Gln	NA		37	CCDS2715.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	.	10.42	1.346322	0.24426	.	.	ENSG00000196345	ENST00000426540;ENST00000273320;ENST00000315777	T;T	0.26223	1.75;1.75	4.21	2.37	0.29283	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.348037	0.16505	N	0.211495	T	0.09862	0.0242	L	0.31526	0.94	0.09310	N	0.999999	B	0.25609	0.13	B	0.17979	0.02	T	0.26360	-1.0105	10	0.09084	T	0.74	-4.0189	7.4684	0.27334	0.2833:0.0:0.7167:0.0	.	568	Q9P0L1	ZN167_HUMAN	Q	568;568;6	ENSP00000395524:R568Q;ENSP00000273320:R568Q	ENSP00000273320:R568Q	R	+	2	0	ZNF167	44587309	0.000000	0.05858	1.000000	0.80357	0.894000	0.52154	-2.636000	0.00867	0.996000	0.38943	0.655000	0.94253	CGA	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256752.4		+	ENST00000273320.3	Missense_Mutation	SNP	3 : 44612305 - 44612305 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	481	27
NRXN3	9369	broad.mit.edu	37	14	79175641	79175641	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:79175641G>A	ENST00000554719.1	+	4	675	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	RP11-232C2.2_ENST00000555680.1_RNA|NRXN3_ENST00000335750.5_Missense_Mutation_p.E62K	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AATCTATGGCGAAGTTGTGTT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	101	102			NA	NA	14		NA											NA				79175641		2203	4300	6503	SO:0001583	missense			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645	9369	9369			8010	protein-coding gene	gene with protein product		600567	chromosome 14 open reading frame 60	C14orf60	NA	11944992, 12379233	Standard	NM_001105250	NM_004796	NA	Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.184G>A	14.37:g.79175641G>A	ENSP00000451648:p.Glu62Lys	NA	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	37	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118189	0.37339	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000553631;ENST00000554719;ENST00000335750;ENST00000557081	T;T;T;T	0.78595	-1.19;-0.25;-0.25;-1.19	5.38	5.38	0.77491	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);	0.126176	0.56097	D	0.000030	T	0.57330	0.2046	N	0.08118	0	0.46849	D	0.999226	P;P	0.42993	0.797;0.622	B;B	0.32090	0.085;0.14	T	0.61302	-0.7090	9	.	.	.	.	19.1251	0.93380	0.0:0.0:1.0:0.0	.	435;62	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	K	435;433;6;62;62;6	ENSP00000451947:E6K;ENSP00000451648:E62K;ENSP00000338349:E62K;ENSP00000450462:E6K	.	E	+	1	0	NRXN3	78245394	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.968000	0.87980	2.518000	0.84900	0.563000	0.77884	GAA	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413787.1		+	ENST00000554719.1	Missense_Mutation	SNP	14 : 79175641 - 79175641 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	343	80
HNRNPCL1	343069	broad.mit.edu	37	1	12907993	12907993	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12907993C>A	ENST00000317869.6	-	2	375	c.150G>T	c.(148-150)aaG>aaT	p.K50N		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1	NA										NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						AGGCAAAGCCCTTATGAACAG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	92	92			NA	NA	1		NA											NA				12907993		2203	4297	6500	SO:0001583	missense			BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172	343069	343069		RNA binding motif (RRM) containing	29295	protein-coding gene	gene with protein product				HNRPCL1	NA		Standard	NM_001013631	NM_001013631	NA	Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.150G>T	1.37:g.12907993C>A	ENSP00000365370:p.Lys50Asn	NA		37	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303196	0.40795	.	.	ENSG00000179172	ENST00000317869	T	0.52983	0.64	1.09	0.111	0.14619	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	U	0.000002	T	0.44973	0.1319	M	0.68317	2.08	0.49130	D	0.999759	P	0.41978	0.767	B	0.44224	0.444	T	0.34900	-0.9810	10	0.54805	T	0.06	.	7.017	0.24892	0.0:0.7118:0.2881:0.0	.	50	O60812	HNRCL_HUMAN	N	50	ENSP00000365370:K50N	ENSP00000365370:K50N	K	-	3	2	HNRNPCL1	12830580	1.000000	0.71417	0.379000	0.26080	0.121000	0.20230	0.593000	0.23999	0.051000	0.15978	-0.527000	0.04329	AAG	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005462.1		-	ENST00000317869.6	Missense_Mutation	SNP	1 : 12907993 - 12907993 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	917	85
FRYL	285527	broad.mit.edu	37	4	48604058	48604058	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48604058C>A	ENST00000503238.1	-	10	1013	c.1014G>T	c.(1012-1014)caG>caT	p.Q338H	FRYL_ENST00000537810.1_Missense_Mutation_p.Q338H|FRYL_ENST00000507711.1_Missense_Mutation_p.Q338H|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000506685.1_Missense_Mutation_p.Q44H|FRYL_ENST00000358350.4_Missense_Mutation_p.Q338H			O94915	FRYL_HUMAN	FRY-like	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ACAAACAGTTCTGTAGGAAAA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	59	60			NA	NA	4		NA											NA				48604058		1802	4052	5854	SO:0001583	missense			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539	285527	285527			29127	protein-coding gene	gene with protein product			KIAA0826, furry homolog-like (Drosophila)	KIAA0826	NA	10048485	Standard		NM_015030	NA	Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.1014G>T	4.37:g.48604058C>A	ENSP00000426064:p.Gln338His	NA	O95640|Q8WTZ5|Q9NT40	37	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.213028	0.58452	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711;ENST00000506685	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.14;-0.2	5.54	-0.577	0.11727	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	U	0.000004	T	0.60715	0.2290	N	0.19112	0.55	0.80722	D	1	P;D	0.55605	0.891;0.972	P;P	0.57425	0.601;0.82	T	0.59172	-0.7504	10	0.49607	T	0.09	.	11.0087	0.47651	0.0:0.4995:0.0:0.5004	.	338;338	F2Z2S2;O94915	.;FRYL_HUMAN	H	338;338;338;338;44	ENSP00000426064:Q338H;ENSP00000351113:Q338H;ENSP00000441114:Q338H;ENSP00000421584:Q338H;ENSP00000425592:Q44H	ENSP00000351113:Q338H	Q	-	3	2	FRYL	48298815	0.982000	0.34865	0.997000	0.53966	0.995000	0.86356	0.257000	0.18369	-0.072000	0.12864	-0.140000	0.14226	CAG	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369265.2		-	ENST00000503238.1	Missense_Mutation	SNP	4 : 48604058 - 48604058 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	264	45
KLHL30	377007	broad.mit.edu	37	2	239054470	239054470	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239054470G>A	ENST00000409223.1	+	5	1254	c.1147G>A	c.(1147-1149)Ggc>Agc	p.G383S	KLHL30_ENST00000305959.4_Missense_Mutation_p.G365S			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	383										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CTACGTTATCGGCGGTGAGGC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	29	27			NA	NA	2		NA											NA				239054470		2048	4180	6228	SO:0001583	missense				CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427	377007	377007		Kelch-like, BTB/POZ domain containing	24770	protein-coding gene	gene with protein product			kelch-like 30 (Drosophila)		NA		Standard	NM_198582	NM_198582	NA	Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.1147G>A	2.37:g.239054470G>A	ENSP00000386389:p.Gly383Ser	NA	Q6ZUS1	37	CCDS46555.2	.	.	.	.	.	.	.	.	.	.	G	19.50	3.838659	0.71373	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	D;D	0.98792	-5.14;-5.14	4.62	4.62	0.57501	Kelch-type beta propeller (1);	0.065440	0.64402	D	0.000010	D	0.99275	0.9747	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98977	1.0803	10	0.87932	D	0	.	16.2395	0.82399	0.0:0.0:1.0:0.0	.	383	Q0D2K2	KLH30_HUMAN	S	383;365	ENSP00000386389:G383S;ENSP00000302386:G365S	ENSP00000302386:G365S	G	+	1	0	KLHL30	238719209	1.000000	0.71417	0.096000	0.21009	0.173000	0.22820	9.781000	0.99029	2.113000	0.64589	0.542000	0.68232	GGC	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328518.1		+	ENST00000409223.1	Missense_Mutation	SNP	2 : 239054470 - 239054470 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	88	28
PLEKHM1	9842	broad.mit.edu	37	17	43531235	43531235	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43531235G>A	ENST00000430334.3	-	7	2116	c.1983C>T	c.(1981-1983)ctC>ctT	p.L661L	AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Silent_p.L572L	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	661					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CGGGCTCCGAGAGCAGGTCTG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	40	38			NA	NA	17		NA											NA				43531235		2201	4297	6498	SO:0001819	synonymous_variant			X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190	9842	9842		Pleckstrin homology (PH) domain containing	29017	protein-coding gene	gene with protein product		611466			NA	9205841, 12820725	Standard	NM_014798	NM_014798	NA	Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.1983C>T	17.37:g.43531235G>A		NA	Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	37	CCDS32671.1																																																																																			PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444659.1		-	ENST00000430334.3	Silent	SNP	17 : 43531235 - 43531235 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	561	103
ZNF81	347344	broad.mit.edu	37	X	47775190	47775190	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47775190G>A	ENST00000376954.1	+	6	1513	c.1145G>A	c.(1144-1146)gGa>gAa	p.G382E	ZNF81_ENST00000338637.7_Missense_Mutation_p.G382E			P51508	ZNF81_HUMAN	zinc finger protein 81	382						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				ACTCATACTGGAGAAAAACTC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	59	59			NA	NA	X		NA											NA				47775190		2191	4295	6486	SO:0001583	missense			AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779	347344	347344		Zinc fingers, C2H2-type, -	13156	protein-coding gene	gene with protein product		314998	zinc finger protein 81 (HFZ20), mental retardation, X-linked 45	MRX45	NA	8507979, 15121780	Standard	NM_007137	NM_007137	NA	Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.1145G>A	X.37:g.47775190G>A	ENSP00000366153:p.Gly382Glu	NA	Q6RX22|Q96QH6	37	CCDS43933.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846366	0.51164	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	T;T	0.25749	1.78;1.78	4.16	3.29	0.37713	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42420	D	0.000708	T	0.21347	0.0514	L	0.27975	0.815	0.31963	N	0.608155	P	0.47677	0.899	P	0.46585	0.521	T	0.18429	-1.0337	10	0.72032	D	0.01	.	8.9002	0.35490	0.1139:0.0:0.8861:0.0	.	382	P51508	ZNF81_HUMAN	E	382	ENSP00000366153:G382E;ENSP00000341151:G382E	ENSP00000341151:G382E	G	+	2	0	ZNF81	47660134	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.324000	0.59228	1.102000	0.41551	0.600000	0.82982	GGA	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056455.2		+	ENST00000376954.1	Missense_Mutation	SNP	X : 47775190 - 47775190 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	309	86
SLC25A30	253512	broad.mit.edu	37	13	45976437	45976437	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:45976437C>A	ENST00000539591.1	-	5	472	c.309G>T	c.(307-309)caG>caT	p.Q103H				Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	154					mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		TCCCCTCTTGCTGGTAAATGT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													266	258	261			NA	NA	13		NA											NA				45976437		2203	4300	6503	SO:0001583	missense			AK074457	CCDS31967.1, CCDS66539.1	13q14	2013-05-22			ENSG00000174032	ENSG00000174032	253512	253512		Solute carriers	27371	protein-coding gene	gene with protein product		610793			NA		Standard	XM_170736	XM_005266321	NA	Approved		uc001vag.3	Q5SVS4	OTTHUMG00000016853	ENST00000539591.1:c.309G>T	13.37:g.45976437C>A	ENSP00000443542:p.Gln103His	NA	B2RN96	37		.	.	.	.	.	.	.	.	.	.	C	15.26	2.780874	0.49891	.	.	ENSG00000174032	ENST00000519676;ENST00000536510;ENST00000539591;ENST00000519547;ENST00000522438	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	5.59	3.87	0.44632	Mitochondrial carrier domain (2);	0.054596	0.85682	D	0.000000	T	0.73140	0.3549	L	0.60455	1.87	0.42273	D	0.992066	B;B	0.06786	0.001;0.001	B;B	0.17433	0.018;0.018	T	0.69720	-0.5069	10	0.59425	D	0.04	-5.9333	10.8811	0.46939	0.0:0.7882:0.0:0.2118	.	154;154	Q5SVS4;B3KSR0	KMCP1_HUMAN;.	H	154;79;103;103;79	ENSP00000429168:Q154H;ENSP00000443542:Q103H;ENSP00000429308:Q103H;ENSP00000430687:Q79H	ENSP00000429308:Q103H	Q	-	3	2	SLC25A30	44874437	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.711000	0.37930	0.837000	0.34925	-0.150000	0.13652	CAG	SLC25A30-201	KNOWN	basic	protein_coding	NA	protein_coding			-	ENST00000539591.1	Missense_Mutation	SNP	13 : 45976437 - 45976437 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	660	90
RYR3	6263	broad.mit.edu	37	15	33955915	33955915	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33955915T>C	ENST00000389232.4	+	36	5666	c.5596T>C	c.(5596-5598)Ttc>Ctc	p.F1866L	RYR3_ENST00000415757.3_Missense_Mutation_p.F1866L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1866	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GACCAAGGAGTTCCGCTCACC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	30	30			NA	NA	15		NA											NA				33955915		1986	4147	6133	SO:0001583	missense				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838	6263	6263		Ion channels / Ryanodine receptors, EF-hand domain containing	10485	protein-coding gene	gene with protein product		180903			NA	8276408	Standard		NM_001036	NA	Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5596T>C	15.37:g.33955915T>C	ENSP00000373884:p.Phe1866Leu	NA	O15175|Q15412	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	T	34	5.300383	0.95601	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.72942	-0.7;-0.7	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.85314	0.5668	M	0.84511	2.7	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.81914	0.99;0.995	D	0.87923	0.2705	10	0.87932	D	0	.	15.3557	0.74425	0.0:0.0:0.0:1.0	.	1866;1866	Q15413-2;Q15413	.;RYR3_HUMAN	L	1866	ENSP00000373884:F1866L;ENSP00000399610:F1866L	ENSP00000354735:F1866L	F	+	1	0	RYR3	31743207	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.820000	0.86633	2.203000	0.70933	0.459000	0.35465	TTC	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417514.1		+	ENST00000389232.4	Missense_Mutation	SNP	15 : 33955915 - 33955915 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	86	10
TGM6	343641	broad.mit.edu	37	20	2384147	2384147	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2384147G>T	ENST00000202625.2	+	8	1154		c.e8+1		TGM6_ENST00000381423.1_Splice_Site	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	NA					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GAGAGTGAAGGTACGCTCAAT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	67	67			NA	NA	20		NA											NA				2384147		2203	4300	6503	SO:0001630	splice_region_variant			AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948	343641	343641		Transglutaminases	16255	protein-coding gene	gene with protein product	spinocerebellar ataxia 35	613900	transglutaminase 3-like	TGM3L	NA	11390390, 21106500	Standard	NM_198994	NM_198994	NA	Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1093+1G>T	20.37:g.2384147G>T		NA	Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	37	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336713	0.60963	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0187	0.80464	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TGM6	2332147	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	9.866000	0.99616	2.735000	0.93741	0.549000	0.68633	.	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077581.2	Intron	+	ENST00000202625.2	Splice_Site	SNP	20 : 2384147 - 2384147 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	574	113
UFSP2	55325	broad.mit.edu	37	4	186339802	186339802	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186339802T>G	ENST00000264689.6	-	3	321	c.205A>C	c.(205-207)Aac>Cac	p.N69H	UFSP2_ENST00000502282.1_5'UTR	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	69						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		GGAATGGTGTTTATGTCACTG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	119	121			NA	NA	4		NA											NA				186339802		2203	4300	6503	SO:0001583	missense			AK002062	CCDS3842.1	4q35.1	2008-03-25	2008-03-25	2008-03-25	ENSG00000109775	ENSG00000109775	55325	55325			25640	protein-coding gene	gene with protein product		611482	chromosome 4 open reading frame 20	C4orf20	NA	17182609	Standard	NM_018359	NM_018359	NA	Approved	FLJ11200	uc003ixo.2	Q9NUQ7	OTTHUMG00000160441	ENST00000264689.6:c.205A>C	4.37:g.186339802T>G	ENSP00000264689:p.Asn69His	NA	Q6IA77|Q96FS3	37	CCDS3842.1	.	.	.	.	.	.	.	.	.	.	T	5.020	0.189439	0.09547	.	.	ENSG00000109775	ENST00000264689;ENST00000505357	T;T	0.46451	1.51;0.87	5.87	5.87	0.94306	.	0.300775	0.37136	N	0.002226	T	0.34106	0.0886	L	0.43152	1.355	0.23249	N	0.998048	B	0.29805	0.257	B	0.29176	0.099	T	0.26985	-1.0087	10	0.33940	T	0.23	-14.7842	9.8989	0.41335	0.2584:0.0:0.0:0.7416	.	69	Q9NUQ7	UFSP2_HUMAN	H	69;63	ENSP00000264689:N69H;ENSP00000423108:N63H	ENSP00000264689:N69H	N	-	1	0	UFSP2	186576796	0.989000	0.36119	0.865000	0.33974	0.052000	0.14988	2.247000	0.43151	2.242000	0.73789	0.482000	0.46254	AAC	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360589.2		-	ENST00000264689.6	Missense_Mutation	SNP	4 : 186339802 - 186339802 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	492	46
CAST	831	broad.mit.edu	37	5	96107374	96107374	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:96107374A>C	ENST00000508579.1	+	17	1552	c.1263A>C	c.(1261-1263)aaA>aaC	p.K421N	CAST_ENST00000515663.1_Missense_Mutation_p.K429N|CAST_ENST00000338252.3_Missense_Mutation_p.K693N|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000511049.1_Missense_Mutation_p.K691N|CAST_ENST00000359176.4_Missense_Mutation_p.K770N|CAST_ENST00000504465.1_Missense_Mutation_p.K634N|CAST_ENST00000508830.1_Missense_Mutation_p.K789N|CAST_ENST00000395813.1_Missense_Mutation_p.K789N|CAST_ENST00000510756.1_Missense_Mutation_p.K767N|ERAP1_ENST00000296754.3_Intron|CAST_ENST00000395812.2_Missense_Mutation_p.K748N|CAST_ENST00000511782.1_Missense_Mutation_p.K692N|CAST_ENST00000309190.5_Missense_Mutation_p.K684N|CAST_ENST00000508608.1_Missense_Mutation_p.K752N|CAST_ENST00000325674.7_Missense_Mutation_p.K754N|CAST_ENST00000341926.3_Missense_Mutation_p.K706N|CAST_ENST00000509903.1_Missense_Mutation_p.K671N			P20810	ICAL_HUMAN	calpastatin	706							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		CCAAGCCAAAAGATGACTAAA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	105	105			NA	NA	5		NA											NA				96107374		2203	4300	6503	SO:0001583	missense			AF327443	CCDS4082.1, CCDS54882.1, CCDS54883.1, CCDS75279.1	5q15	2012-09-20			ENSG00000153113	ENSG00000153113	831	831			1515	protein-coding gene	gene with protein product		114090			NA	8340353, 14685690, 15820218	Standard	NM_173062	NM_173060	NA	Approved		uc003klx.3	P20810	OTTHUMG00000128413	ENST00000508579.1:c.1263A>C	5.37:g.96107374A>C	ENSP00000425787:p.Lys421Asn	NA	O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.49|13.49	2.252721|2.252721	0.39797|0.39797	.|.	.|.	ENSG00000153113|ENSG00000153113	ENST00000338252;ENST00000508830;ENST00000395813;ENST00000359176;ENST00000325674;ENST00000395812;ENST00000510756;ENST00000508608;ENST00000341926;ENST00000511049;ENST00000309190;ENST00000504465;ENST00000509903;ENST00000511782;ENST00000508579;ENST00000515663|ENST00000437034	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|T	0.24151|0.18502	1.93;1.89;1.89;1.88;1.87;1.93;1.9;1.94;1.93;1.94;1.95;1.99;1.94;1.94;2.0;1.9|2.21	5.31|5.31	1.59|1.59	0.23543|0.23543	.|.	0.251159|0.251159	0.34046|0.34046	N|N	0.004309|0.004309	T|T	0.22936|0.22936	0.0554|0.0554	M|M	0.65498|0.65498	2.005|2.005	0.49687|0.49687	D|D	0.999817|0.999817	D;D;P;B;P;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.999;0.993;0.829;0.437;0.829;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.996;1.0;1.0|.	D;D;B;B;B;D;D;D;D;D;D;D;D;D;D;D|.	0.87578|.	0.991;0.977;0.36;0.186;0.36;0.996;0.997;0.997;0.996;0.997;0.997;0.998;0.998;0.99;0.998;0.998|.	T|T	0.02797|0.02797	-1.1109|-1.1109	10|8	0.72032|0.66056	D|D	0.01|0.02	-4.0288|-4.0288	2.8782|2.8782	0.05639|0.05639	0.6117:0.0:0.2025:0.1858|0.6117:0.0:0.2025:0.1858	.|.	634;752;429;433;428;691;671;684;665;706;754;748;770;767;789;693|.	E9PDE4;B7Z468;E7EQA0;Q86YM9;E7EPY6;E7EVY3;E9PCH5;G5E946;P20810-4;P20810;P20810-5;G5E9D3;P20810-7;E7ESM9;P20810-6;P20810-2|.	.;.;.;.;.;.;.;.;.;ICAL_HUMAN;.;.;.;.;.;.|.	N|T	693;789;789;770;754;748;767;752;706;691;684;634;671;692;421;429|434	ENSP00000343421:K693N;ENSP00000425721:K789N;ENSP00000379158:K789N;ENSP00000352098:K770N;ENSP00000320319:K754N;ENSP00000379157:K748N;ENSP00000422176:K767N;ENSP00000422677:K752N;ENSP00000339914:K706N;ENSP00000421130:K691N;ENSP00000312523:K684N;ENSP00000425670:K634N;ENSP00000426946:K671N;ENSP00000423638:K692N;ENSP00000425787:K421N;ENSP00000422929:K429N|ENSP00000412374:K434T	ENSP00000312523:K684N|ENSP00000412374:K434T	K|K	+|+	3|2	2|0	CAST|CAST	96133130|96133130	0.824000|0.824000	0.29247|0.29247	0.484000|0.484000	0.27391|0.27391	0.215000|0.215000	0.24574|0.24574	1.298000|1.298000	0.33412|0.33412	0.406000|0.406000	0.25560|0.25560	0.397000|0.397000	0.26171|0.26171	AAA|AAG	CAST-037	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000370573.2		+	ENST00000508579.1	Missense_Mutation	SNP	5 : 96107374 - 96107374 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	457	93
RGS7	6000	broad.mit.edu	37	1	240969500	240969500	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240969500A>C	ENST00000366565.1	-	15	1590	c.1209T>G	c.(1207-1209)agT>agG	p.S403R	RGS7_ENST00000366563.1_Missense_Mutation_p.S403R|RGS7_ENST00000407727.1_Missense_Mutation_p.S403R|RGS7_ENST00000348120.2_Missense_Mutation_p.S350R|RGS7_ENST00000331110.7_Missense_Mutation_p.S377R|RGS7_ENST00000366562.4_Missense_Mutation_p.S403R|RGS7_ENST00000446183.2_Missense_Mutation_p.S319R|RGS7_ENST00000366564.1_Missense_Mutation_p.S403R|RGS7_ENST00000401882.1_Missense_Mutation_p.S350R	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	403	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTTTGTCATAACTCTTGGAAT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													200	175	184			NA	NA	1		NA											NA				240969500		2203	4300	6503	SO:0001583	missense			BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901	6000	6000		Regulators of G-protein signaling	10003	protein-coding gene	gene with protein product		602517	regulator of G-protein signalling 7		NA	8548815	Standard	NM_002924	XM_005273218	NA	Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000366565.1:c.1209T>G	1.37:g.240969500A>C	ENSP00000355523:p.Ser403Arg	NA	Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	37	CCDS31071.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.119829	0.77323	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.01981	4.52;4.52;4.52;4.52;4.52;4.52;4.52;4.52;4.52;4.52	5.95	2.34	0.29019	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.036320	0.85682	N	0.000000	T	0.10981	0.0268	M	0.87900	2.915	0.54753	D	0.999984	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;0.998;1.0;0.993;1.0	T	0.00389	-1.1770	10	0.87932	D	0	.	4.96	0.14061	0.5959:0.1587:0.2455:0.0	.	319;377;350;403;403;403;403	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	R	377;403;403;403;234;350;319;403;403;350	ENSP00000331485:S377R;ENSP00000355523:S403R;ENSP00000355522:S403R;ENSP00000355521:S403R;ENSP00000404399:S234R;ENSP00000341242:S350R;ENSP00000390138:S319R;ENSP00000355520:S403R;ENSP00000384428:S403R;ENSP00000385508:S350R	ENSP00000331485:S377R	S	-	3	2	RGS7	239036123	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.096000	0.41738	0.524000	0.28502	0.528000	0.53228	AGT	RGS7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096719.3		-	ENST00000366565.1	Missense_Mutation	SNP	1 : 240969500 - 240969500 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	554	133
RPP30	10556	broad.mit.edu	37	10	92663014	92663014	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:92663014C>A	ENST00000489806.1	+	0	532				RPP30_ENST00000413330.1_Missense_Mutation_p.L322I			P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	NA					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						caagaacaggctttgaccctt	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	74	74			NA	NA	10		NA											NA				92663014		1832	4081	5913	SO:0001624	3_prime_UTR_variant			BC006991	CCDS7411.1, CCDS44458.1	10q23.32-q23.33	2012-05-21			ENSG00000148688	ENSG00000148688	10556	10556			17688	protein-coding gene	gene with protein product		606115			NA	9037013, 9308968	Standard	NM_006413	NM_006413	NA	Approved	TSG15	uc001khd.2	P78346	OTTHUMG00000018733	ENST00000489806.1:c.*529C>A	10.37:g.92663014C>A		NA	B2R799	37		.	.	.	.	.	.	.	.	.	.	C	7.167	0.586885	0.13749	.	.	ENSG00000148688	ENST00000413330	T	0.48522	0.81	1.78	0.851	0.18989	.	.	.	.	.	T	0.24084	0.0583	N	0.08118	0	0.09310	N	1	B	0.20261	0.043	B	0.16289	0.015	T	0.19353	-1.0308	9	0.87932	D	0	.	4.3377	0.11094	0.0:0.7913:0.0:0.2087	.	322	E9PB02	.	I	322	ENSP00000389182:L322I	ENSP00000389182:L322I	L	+	1	0	RPP30	92652994	0.207000	0.23482	0.010000	0.14722	0.137000	0.21094	0.436000	0.21526	0.318000	0.23185	0.563000	0.77884	CTT	RPP30-003	KNOWN	basic	processed_transcript	NA	protein_coding	OTTHUMT00000049349.2		+	ENST00000489806.1	3'UTR	SNP	10 : 92663014 - 92663014 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	145	28
INSR	3643	broad.mit.edu	37	19	7117408	7117408	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7117408G>A	ENST00000341500.5	-	21	3811	c.3772C>T	c.(3772-3774)Cgc>Tgc	p.R1258C	INSR_ENST00000302850.5_Missense_Mutation_p.R1270C	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	1270	Protein kinase.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGCACATGCGCATGAGGTCA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	82	71	75		3808,3772	4.1	1	19		75	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	INSR	NM_000208.2,NM_001079817.1	180,180	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	1270/1383,1258/1371	7117408	1,13005	2203	4300	6503	SO:0001583	missense			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105	NA	3643		CD molecules, Fibronectin type III domain containing	6091	protein-coding gene	gene with protein product		147670			NA	2983222	Standard		NM_000208	NA	Approved	CD220	uc002mgd.1	P06213		ENST00000341500.5:c.3772C>T	19.37:g.7117408G>A	ENSP00000342838:p.Arg1258Cys	NA	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	37	CCDS42487.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249741	0.59212	0.0	1.16E-4	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.83163	-1.69;-1.69	5.14	4.1	0.47936	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.618783	0.13790	N	0.362574	T	0.77631	0.4159	L	0.50993	1.605	0.54753	D	0.999989	B;P	0.34522	0.401;0.455	B;B	0.27170	0.075;0.077	T	0.77289	-0.2643	10	0.66056	D	0.02	.	12.7767	0.57453	0.0:0.0:0.835:0.165	.	1258;1270	P06213-2;P06213	.;INSR_HUMAN	C	1270;1258	ENSP00000303830:R1270C;ENSP00000342838:R1258C	ENSP00000303830:R1270C	R	-	1	0	INSR	7068408	1.000000	0.71417	0.995000	0.50966	0.875000	0.50365	5.099000	0.64554	1.361000	0.45981	0.563000	0.77884	CGC	INSR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458543.1		-	ENST00000341500.5	Missense_Mutation	SNP	19 : 7117408 - 7117408 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	347	73
ZBTB39	9880	broad.mit.edu	37	12	57397488	57397488	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57397488C>T	ENST00000300101.2	-	2	1299	c.1214G>A	c.(1213-1215)tGt>tAt	p.C405Y		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						CTTAGTTTCACACATGTCGCA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	78	82			NA	NA	12		NA											NA				57397488		2203	4300	6503	SO:0001583	missense			AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860	9880	9880		-, BTB/POZ domain containing, Zinc fingers, C2H2-type	29014	protein-coding gene	gene with protein product					NA	9205841	Standard	NM_014830	NM_014830	NA	Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.1214G>A	12.37:g.57397488C>T	ENSP00000300101:p.Cys405Tyr	NA	A7MD38|Q9UD98	37	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587986	0.66105	.	.	ENSG00000166860	ENST00000300101	T	0.58652	0.32	5.6	5.6	0.85130	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.80889	0.4710	M	0.90922	3.16	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	D	0.85036	0.0920	10	0.87932	D	0	-7.2323	17.0969	0.86637	0.0:1.0:0.0:0.0	.	405	O15060	ZBT39_HUMAN	Y	405	ENSP00000300101:C405Y	ENSP00000300101:C405Y	C	-	2	0	ZBTB39	55683755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.608000	0.82898	2.644000	0.89710	0.655000	0.94253	TGT	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411214.1		-	ENST00000300101.2	Missense_Mutation	SNP	12 : 57397488 - 57397488 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	355	72
ACAT1	38	broad.mit.edu	37	11	108018094	108018094	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108018094G>A	ENST00000265838.4	+	12	1352	c.1261G>A	c.(1261-1263)Gcc>Acc	p.A421T		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	421					acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	AGGTGCTTCTGCCATGCTAAT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	124	129			NA	NA	11		NA											NA				108018094		2201	4298	6499	SO:0001583	missense			D90228	CCDS8339.1	11q22.3	2010-04-30	2010-04-30		ENSG00000075239	ENSG00000075239	38	38	2.3.1.9		93	protein-coding gene	gene with protein product	acetoacetyl Coenzyme A thiolase	607809	acetyl-Coenzyme A acetyltransferase 1	ACAT	NA	1979337	Standard	NM_000019	NM_000019	NA	Approved	THIL	uc001pjy.3	P24752	OTTHUMG00000166381	ENST00000265838.4:c.1261G>A	11.37:g.108018094G>A	ENSP00000265838:p.Ala421Thr	NA	B2R6H1	37	CCDS8339.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553242	0.86127	.	.	ENSG00000075239	ENST00000265838	D	0.95238	-3.65	5.57	5.57	0.84162	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	0.187217	0.47852	D	0.000220	D	0.95424	0.8514	M	0.68317	2.08	0.80722	D	1	P	0.42483	0.781	P	0.47673	0.554	D	0.95388	0.8479	10	0.66056	D	0.02	-18.7742	19.9215	0.97087	0.0:0.0:1.0:0.0	.	421	P24752	THIL_HUMAN	T	421	ENSP00000265838:A421T	ENSP00000265838:A421T	A	+	1	0	ACAT1	107523304	1.000000	0.71417	0.964000	0.40570	0.960000	0.62799	3.857000	0.55972	2.785000	0.95823	0.655000	0.94253	GCC	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389474.1		+	ENST00000265838.4	Missense_Mutation	SNP	11 : 108018094 - 108018094 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	461	72
ZNF343	79175	broad.mit.edu	37	20	2463857	2463857	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2463857G>A	ENST00000278772.4	-	6	2237	c.1750C>T	c.(1750-1752)Cga>Tga	p.R584*	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R584*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CTAAAGCCTCGCCCACACTCC	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)	large_intestine(1)											101	83	89			NA	NA	20		NA											NA				2463857		2203	4300	6503	SO:0001587	stop_gained			AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876	79175	79175		Zinc fingers, C2H2-type, -	16017	protein-coding gene	gene with protein product					NA		Standard	NM_024325	NM_001282498	NA	Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.1750C>T	20.37:g.2463857G>A	ENSP00000278772:p.Arg584*	NA	Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	37	CCDS13028.1	.	.	.	.	.	.	.	.	.	.	G	38	7.002011	0.97994	.	.	ENSG00000088876	ENST00000278772	.	.	.	2.65	0.578	0.17391	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	2.4345	0.04479	0.2901:0.0:0.4746:0.2353	.	.	.	.	X	584	.	ENSP00000278772:R584X	R	-	1	2	ZNF343	2411857	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.504000	0.06375	0.035000	0.15519	0.591000	0.81541	CGA	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077617.1		-	ENST00000278772.4	Nonsense_Mutation	SNP	20 : 2463857 - 2463857 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	387	69
FAT3	120114	broad.mit.edu	37	11	92533803	92533803	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92533803G>A	ENST00000525166.1	+	9	7196	c.7174G>A	c.(7174-7176)Gat>Aat	p.D2392N	FAT3_ENST00000409404.2_Missense_Mutation_p.D2542N|FAT3_ENST00000298047.6_Missense_Mutation_p.D2542N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2542	Cadherin 21.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTTTGCCAAGGATCGATTCCT	0.493		NA								TCGA Ovarian(4;0.039)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	48	48			NA	NA	11		NA											NA				92533803		2061	4203	6264	SO:0001583	missense			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323	120114	120114		Cadherins / Cadherin-related	23112	protein-coding gene	gene with protein product	cadherin-related family member 10	612483	FAT tumor suppressor homolog 3 (Drosophila)		NA	11811999	Standard	NM_001008781	NM_001008781	NA	Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000525166.1:c.7174G>A	11.37:g.92533803G>A	ENSP00000432586:p.Asp2392Asn	NA	B5MDB0|Q96AU6	37		.	.	.	.	.	.	.	.	.	.	G	20.4	3.981542	0.74474	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.60424	0.19;0.19;0.19	5.95	5.04	0.67666	.	.	.	.	.	T	0.44159	0.1280	L	0.33485	1.01	0.80722	D	1	B	0.29766	0.256	B	0.25140	0.058	T	0.37911	-0.9685	9	0.39692	T	0.17	.	10.5916	0.45312	0.0684:0.1337:0.7978:0.0	.	2542	Q8TDW7-3	.	N	2542;2542;2392	ENSP00000298047:D2542N;ENSP00000387040:D2542N;ENSP00000432586:D2392N	ENSP00000298047:D2542N	D	+	1	0	FAT3	92173451	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.887000	0.63156	1.511000	0.48818	0.655000	0.94253	GAT	FAT3-001	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000335363.3		+	ENST00000525166.1	Missense_Mutation	SNP	11 : 92533803 - 92533803 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	148	34
SRPX	8406	broad.mit.edu	37	X	38020292	38020292	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:38020292G>A	ENST00000378533.3	-	6	775	c.669C>T	c.(667-669)ggC>ggT	p.G223G	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000544439.1_Silent_p.G203G|SRPX_ENST00000538295.1_Silent_p.G223G|SRPX_ENST00000343800.6_Silent_p.G210G|SRPX_ENST00000432886.2_Silent_p.G164G	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	223	HYR.				cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						CTGGGGGGAGGCCTTTTAGAA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	63	65			NA	NA	X		NA											NA				38020292		2202	4299	6501	SO:0001819	synonymous_variant			U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955	8406	8406			11309	protein-coding gene	gene with protein product		300187	sushi-repeat-containing protein, X chromosome, sushi-repeat-containing protein, X-linked		NA	8634708, 8634709	Standard	NM_006307	NM_006307	NA	Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.669C>T	X.37:g.38020292G>A		NA	Q4VX66|Q99652|Q99913	37	CCDS14245.1																																																																																			SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056243.1		-	ENST00000378533.3	Silent	SNP	X : 38020292 - 38020292 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	306	39
DCAF8L1	139425	broad.mit.edu	37	X	27998727	27998727	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:27998727A>G	ENST00000441525.1	-	1	839	c.725T>C	c.(724-726)gTc>gCc	p.V242A		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	242								p.V242G(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						AGCCTGGATGACATTAATATC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											71	63	66			NA	NA	X		NA											NA				27998727		2202	4300	6502	SO:0001583	missense				CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372	139425	139425		WD repeat domain containing	31810	protein-coding gene	gene with protein product			WD repeat domain 42B	WDR42B	NA		Standard	XM_066690	NM_001017930	NA	Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.725T>C	X.37:g.27998727A>G	ENSP00000405222:p.Val242Ala	NA	B3KXX1	37	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.504791	0.44558	.	.	ENSG00000226372	ENST00000441525	D	0.88741	-2.42	0.842	0.842	0.18927	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.070917	0.56097	D	0.000032	D	0.91061	0.7187	M	0.91196	3.185	0.40817	D	0.983474	P	0.50943	0.94	P	0.49853	0.624	D	0.89265	0.3600	10	0.87932	D	0	-7.6917	5.6395	0.17557	0.9999:0.0:1.0E-4:0.0	.	242	A6NGE4	DC8L1_HUMAN	A	242	ENSP00000405222:V242A	ENSP00000405222:V242A	V	-	2	0	DCAF8L1	27908648	1.000000	0.71417	0.137000	0.22149	0.019000	0.09904	3.817000	0.55668	0.571000	0.29365	0.235000	0.17854	GTC	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056150.2		-	ENST00000441525.1	Missense_Mutation	SNP	X : 27998727 - 27998727 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	222	55
USP15	9958	broad.mit.edu	37	12	62775384	62775384	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:62775384C>T	ENST00000280377.5	+	9	1087	c.1029C>T	c.(1027-1029)gcC>gcT	p.A343A	USP15_ENST00000393654.3_Silent_p.A318A|USP15_ENST00000353364.3_Silent_p.A314A	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	343					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AATCTTATGCCGAACTGATCA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(181;615 2041 39364 49691 50001)							NA				0													168	146	154			NA	NA	12		NA											NA				62775384		2203	4300	6503	SO:0001819	synonymous_variant			AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08				9958	9958		Ubiquitin-specific peptidases	12613	protein-coding gene	gene with protein product		604731	ubiquitin specific protease 15		NA	12838346	Standard	NM_006313	NM_001252078	NA	Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1029C>T	12.37:g.62775384C>T		NA	Q9HCA6|Q9UNP0|Q9Y5B5	37	CCDS58251.1																																																																																			USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407831.2		+	ENST00000280377.5	Silent	SNP	12 : 62775384 - 62775384 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	393	75
HYAL4	23553	broad.mit.edu	37	7	123516989	123516989	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123516989C>T	ENST00000223026.4	+	5	1864	c.1226C>T	c.(1225-1227)gCc>gTc	p.A409V	HYAL4_ENST00000476325.1_Missense_Mutation_p.A409V	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	409					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CACATAGAGGCCTCTGAGGAC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	123	125			NA	NA	7		NA											NA				123516989		2203	4300	6503	SO:0001583	missense			AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302	23553	23553			5323	protein-coding gene	gene with protein product	hyaluronidase 4	604510			NA	10493834	Standard	NM_012269	NM_012269	NA	Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.1226C>T	7.37:g.123516989C>T	ENSP00000223026:p.Ala409Val	NA	Q9UL99|Q9Y6T9	37	CCDS5789.1	.	.	.	.	.	.	.	.	.	.	C	5.940	0.357485	0.11239	.	.	ENSG00000106302	ENST00000223026;ENST00000476325	T;T	0.17691	2.26;2.26	5.86	1.63	0.23807	Epidermal growth factor-like (1);	0.774566	0.12155	N	0.494491	T	0.08268	0.0206	N	0.12887	0.27	0.19300	N	0.999978	B	0.06786	0.001	B	0.06405	0.002	T	0.41928	-0.9481	10	0.13108	T	0.6	0.0162	8.2129	0.31494	0.0:0.5058:0.0:0.4942	.	409	Q2M3T9	HYAL4_HUMAN	V	409	ENSP00000223026:A409V;ENSP00000417186:A409V	ENSP00000223026:A409V	A	+	2	0	HYAL4	123304225	0.000000	0.05858	0.932000	0.37286	0.464000	0.32679	-0.133000	0.10451	0.348000	0.23949	0.650000	0.86243	GCC	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348545.1		+	ENST00000223026.4	Missense_Mutation	SNP	7 : 123516989 - 123516989 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	496	87
ATAD3C	219293	broad.mit.edu	37	1	1386075	1386075	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1386075C>T	ENST00000378785.2	+	1	1007	c.12C>T	c.(10-12)gaC>gaT	p.D4D		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	4							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGTCAAAGGACGCCCTGAATC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	28	29			NA	NA	1		NA											NA				1386075		692	1591	2283	SO:0001819	synonymous_variant			AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915	219293	219293		ATPases / AAA-type	32151	protein-coding gene	gene with protein product					NA		Standard	NM_001039211	NM_001039211	NA	Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.12C>T	1.37:g.1386075C>T		NA	Q8N1Z5	37	CCDS44039.1																																																																																			ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000001279.3		+	ENST00000378785.2	Silent	SNP	1 : 1386075 - 1386075 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	119	7
SPTA1	6708	broad.mit.edu	37	1	158627401	158627401	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158627401G>A	ENST00000368147.4	-	19	2851	c.2671C>T	c.(2671-2673)Cga>Tga	p.R891*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	NA					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R891*(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCATTTTGTCGCCTAGCAGCT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Nonsense(1)	endometrium(1)											175	172	173			NA	NA	1		NA											NA				158627401		2011	4191	6202	SO:0001587	stop_gained			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554	6708	6708		EF-hand domain containing	11272	protein-coding gene	gene with protein product	elliptocytosis 2	182860	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		NA		Standard	NM_003126	NM_003126	NA	Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2671C>T	1.37:g.158627401G>A	ENSP00000357129:p.Arg891*	NA	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	37	6.627707	0.97718	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	4.67	2.72	0.32119	.	0.000000	0.29609	N	0.011661	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3699	0.55250	0.0:0.0:0.6925:0.3075	.	.	.	.	X	891	.	ENSP00000357129:R891X	R	-	1	2	SPTA1	156894025	1.000000	0.71417	0.017000	0.16124	0.037000	0.13140	2.194000	0.42668	0.634000	0.30469	0.655000	0.94253	CGA	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051851.3		-	ENST00000368147.4	Nonsense_Mutation	SNP	1 : 158627401 - 158627401 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1017	290
SLC25A36	55186	broad.mit.edu	37	3	140692672	140692672	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:140692672G>T	ENST00000446041.2	+	6	792	c.567G>T	c.(565-567)gaG>gaT	p.E189D	SLC25A36_ENST00000324194.6_Missense_Mutation_p.E189D|SLC25A36_ENST00000453248.2_Missense_Mutation_p.E163D	NM_001104647.1|NM_018155.2	NP_001098117.1|NP_060625.2	Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	189					response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GTATATCAGAGACTGTTATCC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	68	68			NA	NA	3		NA											NA				140692672		2203	4300	6503	SO:0001583	missense			AK001480	CCDS3114.1, CCDS46927.1	3q23	2013-05-22	2012-03-29		ENSG00000114120	ENSG00000114120	55186	55186		Solute carriers	25554	protein-coding gene	gene with protein product			solute carrier family 25, member 36		NA		Standard	NM_018155	NM_001104647	NA	Approved	FLJ10618, PNC2	uc003etr.2	Q96CQ1	OTTHUMG00000160260	ENST00000446041.2:c.567G>T	3.37:g.140692672G>T	ENSP00000401938:p.Glu189Asp	NA	A8MYF7|Q05CY1|Q9H0G8|Q9NVN5	37	CCDS3114.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335840	0.81801	.	.	ENSG00000114120	ENST00000446041;ENST00000324194;ENST00000453248	T;T;T	0.78246	-1.16;-1.16;-1.16	6.01	6.01	0.97437	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.90998	0.7169	H	0.95950	3.745	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	1.0;1.0;0.996	D	0.92087	0.5677	10	0.54805	T	0.06	-7.1033	11.2987	0.49292	0.0818:0.0:0.9182:0.0	.	163;189;189	B4DL01;Q96CQ1-3;Q96CQ1	.;.;S2536_HUMAN	D	189;189;163	ENSP00000401938:E189D;ENSP00000320688:E189D;ENSP00000391521:E163D	ENSP00000320688:E189D	E	+	3	2	SLC25A36	142175362	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.264000	0.58859	2.861000	0.98227	0.650000	0.86243	GAG	SLC25A36-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359927.1		+	ENST00000446041.2	Missense_Mutation	SNP	3 : 140692672 - 140692672 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	295	49
ABCB5	340273	broad.mit.edu	37	7	20795190	20795190	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20795190G>A	ENST00000404938.2	+	28	4369	c.3717G>A	c.(3715-3717)gaG>gaA	p.E1239E	ABCB5_ENST00000258738.6_Silent_p.E794E	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	794					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CTCATCAAGAGCTCCTGAGAA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	97	99			NA	NA	7		NA											NA				20795190		2203	4300	6503	SO:0001819	synonymous_variant			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846	340273	340273		ATP binding cassette transporters / subfamily B	46	protein-coding gene	gene with protein product	P-glycoprotein ABCB5, ATP-binding cassette protein	611785			NA	8894702, 12960149	Standard	NM_178559	NM_001163942	NA	Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.3717G>A	7.37:g.20795190G>A		NA	A4D131|B7WPL1|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	37	CCDS55090.1																																																																																			ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326736.2		+	ENST00000404938.2	Silent	SNP	7 : 20795190 - 20795190 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	293	60
AHNAK	79026	broad.mit.edu	37	11	62295806	62295806	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62295806G>A	ENST00000378024.4	-	5	6357	c.6083C>T	c.(6082-6084)cCc>cTc	p.P2028L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2028					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTCCATTTTGGGTCCTTTGAT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													341	333	336			NA	NA	11		NA											NA				62295806		2202	4299	6501	SO:0001583	missense			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942	79026	79026			347	protein-coding gene	gene with protein product	desmoyokin	103390	AHNAK nucleoprotein (desmoyokin)		NA	7987395, 12153988	Standard	NM_024060	NM_024060	NA	Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.6083C>T	11.37:g.62295806G>A	ENSP00000367263:p.Pro2028Leu	NA		37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	8.654	0.898950	0.17686	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.05717	3.4	3.9	3.9	0.45041	.	0.000000	0.34555	U	0.003875	T	0.40247	0.1109	H	0.97940	4.11	0.45087	D	0.9981	D	0.76494	0.999	D	0.76575	0.988	T	0.65676	-0.6110	10	0.87932	D	0	.	15.5123	0.75793	0.0:0.0:1.0:0.0	.	2028	Q09666	AHNK_HUMAN	L	117;2028	ENSP00000367263:P2028L	ENSP00000244934:P117L	P	-	2	0	AHNAK	62052382	.	.	0.153000	0.22517	0.340000	0.28889	.	.	1.723000	0.51488	0.298000	0.19748	CCC	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395572.1		-	ENST00000378024.4	Missense_Mutation	SNP	11 : 62295806 - 62295806 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1932	390
APOA4	337	broad.mit.edu	37	11	116693862	116693862	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:116693862C>T	ENST00000357780.3	-	1	160	c.46G>A	c.(46-48)Gcc>Acc	p.A16T		NM_000482.3	NP_000473.2			apolipoprotein A-IV	NA										cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TACTCACCGGCGACAGCCACC	0.587		NA											T	2	9e-04	NA	NA	2184	0.0035	1	,	,	NA	4e-04	NA	NA	NA	9e-04	1	LOWCOV,EXOME	NA	NA	2e-04	SNP								NA				0													133	128	129			NA	NA	11		NA											NA				116693862		2201	4292	6493	SO:0001583	missense				CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244	337	337		Apolipoproteins	602	protein-coding gene	gene with protein product		107690			NA		Standard	NM_000482	NM_000482	NA	Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.46G>A	11.37:g.116693862C>T	ENSP00000350425:p.Ala16Thr	NA		37	CCDS31681.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	T	3.413	-0.119846	0.06838	.	.	ENSG00000110244	ENST00000357780	T	0.70399	-0.48	4.33	3.15	0.36227	.	0.172534	0.40302	N	0.001133	T	0.24586	0.0596	N	0.00265	-1.74	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.40590	-0.9555	10	0.02654	T	1	.	3.7025	0.08387	0.189:0.1025:0.0:0.7085	.	16	P06727	APOA4_HUMAN	T	16	ENSP00000350425:A16T	ENSP00000350425:A16T	A	-	1	0	APOA4	116199072	0.672000	0.27530	0.748000	0.31131	0.699000	0.40488	0.438000	0.21559	0.402000	0.25451	-0.254000	0.11334	GCC	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000106279.2		-	ENST00000357780.3	Missense_Mutation	SNP	11 : 116693862 - 116693862 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	962	118
KIT	3815	broad.mit.edu	37	4	55602902	55602902	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55602902C>A	ENST00000288135.5	+	19	2709	c.2612C>A	c.(2611-2613)cCt>cAt	p.P871H		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	871	Protein kinase.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGCCCCTATCCTGGAATGCCG	0.458		1	Mis, O		GIST, AML, TGCT, mastocytosis, mucosal melanoma	GIST, epithelioma	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	L, M, O, E	0													102	99	100			NA	NA	4		NA											NA				55602902		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404	3815	3815		CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	6342	protein-coding gene	gene with protein product		164920	piebald trait	PBT	NA	9027509	Standard		NM_001093772	NA	Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2612C>A	4.37:g.55602902C>A	ENSP00000288135:p.Pro871His	NA	Q99662|Q9UM99	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454276	0.63290	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.83755	-1.76;-1.76	5.59	5.59	0.84812	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000021	D	0.90164	0.6926	L	0.58428	1.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90602	0.4545	10	0.87932	D	0	.	19.6056	0.95580	0.0:1.0:0.0:0.0	.	867;871	P10721-2;P10721	.;KIT_HUMAN	H	871;867	ENSP00000288135:P871H;ENSP00000390987:P867H	ENSP00000288135:P871H	P	+	2	0	KIT	55297659	1.000000	0.71417	1.000000	0.80357	0.422000	0.31414	5.943000	0.70211	2.625000	0.88918	0.655000	0.94253	CCT	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250618.1		+	ENST00000288135.5	Missense_Mutation	SNP	4 : 55602902 - 55602902 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	476	83
CHD5	26038	broad.mit.edu	37	1	6214959	6214959	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6214959C>T	ENST00000262450.3	-	5	606		c.e5-1		CHD5_ENST00000378021.1_Splice_Site	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	NA					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AATGAGTGGCCTGTAGGGGGA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	48	46			NA	NA	1		NA											NA				6214959		2203	4300	6503	SO:0001630	splice_region_variant			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254	26038	26038		Zinc fingers, PHD-type	16816	protein-coding gene	gene with protein product		610771			NA	11889561, 12592387	Standard	NM_015557	NM_015557	NA	Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.507-1G>A	1.37:g.6214959C>T		NA	O75032|Q5TG89|Q7LGH2|Q9UFR9	37	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989004	0.35131	.	.	ENSG00000116254	ENST00000262450	.	.	.	3.84	3.84	0.44239	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1333	0.81461	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD5	6137546	1.000000	0.71417	0.894000	0.35097	0.226000	0.24999	7.381000	0.79718	1.876000	0.54355	0.313000	0.20887	.	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000002823.2	Intron	-	ENST00000262450.3	Splice_Site	SNP	1 : 6214959 - 6214959 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	287	38
MYH2	4620	broad.mit.edu	37	17	10446206	10446206	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10446206T>G	ENST00000532183.2	-	9	1158	c.890A>C	c.(889-891)aAa>aCa	p.K297T	MYH2_ENST00000397183.2_Missense_Mutation_p.K297T|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000245503.5_Missense_Mutation_p.K297T			Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	NA	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AAGTTCTGGTTTCTTATTCGA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	54	53			NA	NA	17		NA											NA				10446206		2202	4293	6495	SO:0001583	missense				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414	4620	4620		Myosins / Myosin superfamily : Class II	7572	protein-coding gene	gene with protein product		160740	myosin, heavy polypeptide 2, skeletal muscle, adult, inclusion body myopathy 3, autosomal dominant	IBM3	NA	7545970, 11889243	Standard	NM_017534	NM_001100112	NA	Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000532183.2:c.890A>C	17.37:g.10446206T>G	ENSP00000433944:p.Lys297Thr	NA	A0AVL4|Q14322|Q16229|Q86T56	37		.	.	.	.	.	.	.	.	.	.	T	17.71	3.457002	0.63401	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	T;T;T	0.71341	-0.56;-0.56;-0.56	4.89	4.89	0.63831	Myosin head, motor domain (2);	0.000000	0.41097	U	0.000958	T	0.82051	0.4953	M	0.67517	2.055	0.58432	D	0.999994	D;P	0.65815	0.995;0.577	D;P	0.85130	0.997;0.833	D	0.84078	0.0383	10	0.72032	D	0.01	.	13.8513	0.63499	0.0:0.0:0.0:1.0	.	297;297	Q567P6;Q9UKX2	.;MYH2_HUMAN	T	297	ENSP00000433944:K297T;ENSP00000245503:K297T;ENSP00000380367:K297T	ENSP00000245503:K297T	K	-	2	0	MYH2	10386931	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.868000	0.87116	2.063000	0.61619	0.528000	0.53228	AAA	MYH2-006	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000394461.43		-	ENST00000532183.2	Missense_Mutation	SNP	17 : 10446206 - 10446206 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	167	36
ZNF619	285267	broad.mit.edu	37	3	40528333	40528333	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40528333C>T	ENST00000314686.5	+	6	689	c.284C>T	c.(283-285)gCa>gTa	p.A95V	ZNF619_ENST00000456778.1_Missense_Mutation_p.A67V|ZNF619_ENST00000447116.2_Missense_Mutation_p.A151V|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000521353.1_Missense_Mutation_p.A151V|ZNF619_ENST00000522736.1_Missense_Mutation_p.A102V|ZNF619_ENST00000429348.2_Missense_Mutation_p.A111V|ZNF619_ENST00000432264.2_Missense_Mutation_p.A111V			E9PCD9	E9PCD9_HUMAN	zinc finger protein 619	151					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GAAAAAACTGCACAGCTAAAC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	62	61			NA	NA	3		NA											NA				40528333		2203	4300	6503	SO:0001583	missense			AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873	285267	285267		Zinc fingers, C2H2-type, -	26910	protein-coding gene	gene with protein product					NA		Standard	NM_173656	NM_001145083	NA	Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.284C>T	3.37:g.40528333C>T	ENSP00000322529:p.Ala95Val	NA		37		.	.	.	.	.	.	.	.	.	.	C	10.29	1.309264	0.23821	.	.	ENSG00000177873	ENST00000314686;ENST00000447116;ENST00000429348;ENST00000456778;ENST00000522736;ENST00000521353;ENST00000432264	T;T;T;T;T;T;T	0.14516	3.31;3.43;3.61;3.38;2.5;3.43;3.61	2.87	1.86	0.25419	.	.	.	.	.	T	0.08044	0.0201	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B	0.15141	0.007;0.007;0.007;0.007;0.012;0.012	B;B;B;B;B;B	0.12156	0.004;0.004;0.004;0.004;0.007;0.007	T	0.25606	-1.0127	9	0.45353	T	0.12	.	3.0755	0.06245	0.2657:0.5829:0.0:0.1513	.	67;111;151;53;102;95	B4E271;C9JRN5;E9PCD9;B7Z9B3;Q17RW3;Q8N2I2	.;.;.;.;.;ZN619_HUMAN	V	95;151;111;67;102;151;111	ENSP00000322529:A95V;ENSP00000411132:A151V;ENSP00000398024:A111V;ENSP00000397232:A67V;ENSP00000428004:A102V;ENSP00000430705:A151V;ENSP00000388710:A111V	ENSP00000322529:A95V	A	+	2	0	ZNF619	40503337	0.000000	0.05858	0.004000	0.12327	0.013000	0.08279	-1.304000	0.02741	1.622000	0.50330	0.563000	0.77884	GCA	ZNF619-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000254180.2		+	ENST00000314686.5	Missense_Mutation	SNP	3 : 40528333 - 40528333 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	378	59
ROBO4	54538	broad.mit.edu	37	11	124765468	124765468	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124765468G>A	ENST00000306534.3	-	6	1406	c.921C>T	c.(919-921)agC>agT	p.S307S	ROBO4_ENST00000533054.1_Silent_p.S162S	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	307	Fibronectin type-III 1.				angiogenesis|cell differentiation	integral to membrane	receptor activity	p.S307S(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CAAGCTCTGCGCTCTGCCAGC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											33	41	38			NA	NA	11		NA											NA				124765468		2199	4291	6490	SO:0001819	synonymous_variant			AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133	54538	54538		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	17985	protein-coding gene	gene with protein product	magic roundabout	607528	roundabout homolog 4 (Drosophila)		NA	11076864	Standard	NM_019055	NM_019055	NA	Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.921C>T	11.37:g.124765468G>A		NA	A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	37	CCDS8455.1																																																																																			ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387111.1		-	ENST00000306534.3	Silent	SNP	11 : 124765468 - 124765468 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	554	26
PHC1	1911	broad.mit.edu	37	12	9089855	9089855	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9089855G>A	ENST00000433083.2	+	12	2571	c.2426G>A	c.(2425-2427)cGc>cAc	p.R809H	PHC1_ENST00000544916.1_Missense_Mutation_p.R854H|PHC1_ENST00000543824.1_Missense_Mutation_p.R854H|PHC1_ENST00000536844.1_Missense_Mutation_p.R460H			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	854					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	p.R854H(1)		breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						GCTCGCGTTCGCAGGCGTGGA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											27	27	27			NA	NA	12		NA											NA				9089855		2202	4294	6496	SO:0001583	missense			U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752	1911	1911		Sterile alpha motif (SAM) domain containing	3182	protein-coding gene	gene with protein product		602978	early development regulator 1 (homolog of polyhomeotic 1), polyhomeotic-like 1 (Drosophila)	EDR1	NA	9121482	Standard	NM_004426	XM_005253334	NA	Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000433083.2:c.2426G>A	12.37:g.9089855G>A	ENSP00000399194:p.Arg809His	NA	D3DUV4|Q8WVM3|Q9BU63	37		.	.	.	.	.	.	.	.	.	.	G	19.62	3.860889	0.71834	.	.	ENSG00000111752	ENST00000543824;ENST00000251757;ENST00000433083;ENST00000544916;ENST00000536844	T;T;T;T;T	0.55413	1.4;1.4;1.36;1.4;0.52	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000001	T	0.66636	0.2809	L	0.43152	1.355	0.58432	D	0.999999	D	0.71674	0.998	D	0.67548	0.952	T	0.68040	-0.5514	10	0.72032	D	0.01	-1.6997	19.1776	0.93609	0.0:0.0:1.0:0.0	.	854	P78364	PHC1_HUMAN	H	854;854;809;854;460	ENSP00000440674:R854H;ENSP00000251757:R854H;ENSP00000399194:R809H;ENSP00000437659:R854H;ENSP00000440488:R460H	ENSP00000251757:R854H	R	+	2	0	PHC1	8981122	1.000000	0.71417	0.920000	0.36463	0.964000	0.63967	4.890000	0.63178	2.624000	0.88883	0.655000	0.94253	CGC	PHC1-003	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000399117.1		+	ENST00000433083.2	Missense_Mutation	SNP	12 : 9089855 - 9089855 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	213	35
CLEC14A	161198	broad.mit.edu	37	14	38724527	38724527	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38724527C>T	ENST00000342213.2	-	1	1047	c.701G>A	c.(700-702)cGc>cAc	p.R234H		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	234						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TTTGTCCCAGCGAGCGCCGAT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	118	115			NA	NA	14		NA											NA				38724527		2203	4300	6503	SO:0001583	missense				CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435	161198	161198		C-type lectin domain containing	19832	protein-coding gene	gene with protein product			chromosome 14 open reading frame 27	C14orf27	NA		Standard	NM_175060	NM_175060	NA	Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.701G>A	14.37:g.38724527C>T	ENSP00000353013:p.Arg234His	NA	Q695G9|Q6PWT6|Q8N5V5	37	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	C	0.284	-0.984154	0.02180	.	.	ENSG00000176435	ENST00000342213	T	0.74632	-0.86	4.02	-3.59	0.04583	.	.	.	.	.	T	0.46795	0.1411	N	0.11560	0.145	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.35968	-0.9767	9	0.09338	T	0.73	-5.413	7.5425	0.27746	0.0:0.2669:0.1305:0.6025	.	234	Q86T13	CLC14_HUMAN	H	234	ENSP00000353013:R234H	ENSP00000353013:R234H	R	-	2	0	CLEC14A	37794278	0.072000	0.21174	0.026000	0.17262	0.011000	0.07611	-0.732000	0.04904	-0.835000	0.04234	-0.216000	0.12614	CGC	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276729.1		-	ENST00000342213.2	Missense_Mutation	SNP	14 : 38724527 - 38724527 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1619	342
MS4A6E	245802	broad.mit.edu	37	11	60105331	60105331	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60105331G>A	ENST00000300182.4	+	2	330	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	89						integral to membrane	receptor activity	p.E89K(1)		endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						TAAGTTGGACGAAAAGGATAT	0.453		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)											154	146	149			NA	NA	11		NA											NA				60105331		2203	4300	6503	SO:0001583	missense			AF354931	CCDS7984.1	11q12	2008-03-25				ENSG00000166926	245802	245802			14285	protein-coding gene	gene with protein product		608402			NA	11486273	Standard		NM_139249	NA	Approved		uc001npd.3	Q96DS6		ENST00000300182.4:c.265G>A	11.37:g.60105331G>A	ENSP00000300182:p.Glu89Lys	NA	Q3MIL2|Q8NE56|Q96PG4|Q96PG5	37	CCDS7984.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.856475	0.00558	.	.	ENSG00000166926	ENST00000300182	T	0.08634	3.07	2.03	-1.02	0.10135	.	1.042350	0.07546	N	0.914624	T	0.01489	0.0048	N	0.00368	-1.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42599	-0.9442	10	0.02654	T	1	.	1.9174	0.03300	0.5553:0.0:0.1792:0.2655	.	89	Q96DS6	M4A6E_HUMAN	K	89	ENSP00000300182:E89K	ENSP00000300182:E89K	E	+	1	0	MS4A6E	59861907	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-0.638000	0.05452	-0.445000	0.07159	-1.373000	0.01185	GAA	MS4A6E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394296.1		+	ENST00000300182.4	Missense_Mutation	SNP	11 : 60105331 - 60105331 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	691	128
CNTNAP5	129684	broad.mit.edu	37	2	125555694	125555694	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:125555694C>A	ENST00000431078.1	+	19	3375	c.3011C>A	c.(3010-3012)gCt>gAt	p.A1004D		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1004					cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GTTTTTGAGGCTGGCACGTCG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	65	66			NA	NA	2		NA											NA				125555694		1909	4114	6023	SO:0001583	missense			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052	129684	129684			18748	protein-coding gene	gene with protein product		610519			NA		Standard		NM_130773	NA	Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3011C>A	2.37:g.125555694C>A	ENSP00000399013:p.Ala1004Asp	NA	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.427269	0.25726	.	.	ENSG00000155052	ENST00000431078	T	0.78364	-1.17	5.93	4.14	0.48551	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.132089	0.33364	N	0.004998	T	0.61540	0.2355	N	0.21194	0.64	0.09310	N	1	B	0.33583	0.418	B	0.24006	0.05	T	0.53322	-0.8455	10	0.45353	T	0.12	.	11.7401	0.51788	0.0:0.8584:0.0:0.1416	.	1004	Q8WYK1	CNTP5_HUMAN	D	1004	ENSP00000399013:A1004D	ENSP00000399013:A1004D	A	+	2	0	CNTNAP5	125272164	0.057000	0.20700	0.739000	0.30968	0.641000	0.38312	0.819000	0.27308	0.851000	0.35264	-0.136000	0.14681	GCT	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330864.3		+	ENST00000431078.1	Missense_Mutation	SNP	2 : 125555694 - 125555694 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	130	32
MFRP	83552	broad.mit.edu	37	11	119216795	119216795	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119216795G>A	ENST00000530681.1	-	3	376	c.232C>T	c.(232-234)Ctc>Ttc	p.L78F	MFRP_ENST00000360167.4_Missense_Mutation_p.L78F|MFRP_ENST00000529147.1_5'UTR|MFRP_ENST00000449574.2_Missense_Mutation_p.L78F|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000555262.1_Missense_Mutation_p.L78F	NM_001278431.1	NP_001265360.1			membrane frizzled-related protein	NA										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		AGCAGCAGGAGGAGCAGGCTG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	25	25			NA	NA	11		NA											NA				119216795		2189	4293	6482	SO:0001583	missense			AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718	83552	83552			18121	protein-coding gene	gene with protein product	membrane-type frizzled-related protein, complement C1q tumor necrosis factor-related protein 5 precursor variant 1	606227			NA	11263980	Standard	NM_031433	NM_031433	NA	Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.232C>T	11.37:g.119216795G>A	ENSP00000456533:p.Leu78Phe	NA		37	CCDS8421.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261630	0.39995	.	.	ENSG00000235718	ENST00000555262;ENST00000449574;ENST00000360167	T;T;T	0.72835	-0.69;-0.69;1.35	4.78	4.78	0.61160	.	0.086607	0.46442	D	0.000283	T	0.56093	0.1962	L	0.36672	1.1	0.38950	D	0.95833	B;B	0.28971	0.229;0.049	B;B	0.27608	0.081;0.026	T	0.53718	-0.8399	10	0.17369	T	0.5	-21.5893	9.4859	0.38928	0.098:0.0:0.902:0.0	.	78;78	B4DHN8;Q9BY79	.;MFRP_HUMAN	F	78	ENSP00000450509:L78F;ENSP00000391664:L78F;ENSP00000353291:L78F	ENSP00000353291:L78F	L	-	1	0	MFRP	118722005	0.004000	0.15560	1.000000	0.80357	0.981000	0.71138	-0.117000	0.10708	2.357000	0.79964	0.655000	0.94253	CTC	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000415179.1		-	ENST00000530681.1	Missense_Mutation	SNP	11 : 119216795 - 119216795 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	111	14
DSG2	1829	broad.mit.edu	37	18	29126558	29126558	+	Missense_Mutation	SNP	C	C	T	rs149617776	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29126558C>T	ENST00000261590.8	+	15	3418	c.3209C>T	c.(3208-3210)aCg>aTg	p.T1070M	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	1070					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AATTCTATGACGGCTAGGAAC	0.463		NA											A	13	0.01	NA	0.02	2184	0.01	0.9996	,	,	NA	3e-04	NA	NA	NA	0.0061	0.9716	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0								A	MET/THR	1,3769		0,1,1884	89	85	87		3209	-9.3	0	18	dbSNP_134	87	5,8269		0,5,4132	yes	missense	DSG2	NM_001943.3	81	0,6,6016	TT,TC,CC	NA	0.0604,0.0265,0.0498	benign	1070/1119	29126558	6,12038	1885	4137	6022	SO:0001583	missense			Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604	1829	1829		Cadherins / Major cadherins	3049	protein-coding gene	gene with protein product		125671			NA	1612610	Standard	NM_001943	NM_001943	NA	Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.3209C>T	18.37:g.29126558C>T	ENSP00000261590:p.Thr1070Met	NA	Q4KKU6	37	CCDS42423.1	13	0.005952380952380952	0	0.0	6	0.016574585635359115	7	0.012237762237762238	0	0.0	A	10.04	1.241852	0.22796	2.65E-4	6.04E-4	ENSG00000046604	ENST00000261590	T	0.76968	-1.06	4.67	-9.34	0.00636	.	1.337880	0.04842	N	0.440611	T	0.45054	0.1323	L	0.43923	1.385	0.09310	N	0.999999	B	0.10296	0.003	B	0.04013	0.001	T	0.36648	-0.9739	10	0.18276	T	0.48	.	4.4684	0.11700	0.088:0.437:0.1481:0.3269	.	1070	Q14126	DSG2_HUMAN	M	1070	ENSP00000261590:T1070M	ENSP00000261590:T1070M	T	+	2	0	DSG2	27380556	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.531000	0.06171	-2.727000	0.00386	-1.175000	0.01729	ACG	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447506.1		+	ENST00000261590.8	Missense_Mutation	SNP	18 : 29126558 - 29126558 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	612	87
SCYL1	57410	broad.mit.edu	37	11	65304578	65304578	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65304578C>T	ENST00000524944.1	+	14	1971	c.1938C>T	c.(1936-1938)gaC>gaT	p.D646D	SCYL1_ENST00000270176.5_Silent_p.D646D|SCYL1_ENST00000279270.6_Silent_p.D646D|SCYL1_ENST00000533862.1_Silent_p.D646D|SCYL1_ENST00000527009.1_Silent_p.D503D|SCYL1_ENST00000420247.2_Silent_p.D629D|SCYL1_ENST00000525364.1_Silent_p.D646D			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	646					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						GATGGGACGACGAAGACTGGG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	83	78			NA	NA	11		NA											NA				65304578		2127	4244	6371	SO:0001819	synonymous_variant			AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186	57410	57410			14372	protein-coding gene	gene with protein product	teratoma-associated tyrosine kinase, telomerase transcriptional elements-interacting factor, telomerase regulation-associated protein	607982	N-terminal kinase-like	NTKL	NA	11118629	Standard	NM_020680	NM_020680	NA	Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000524944.1:c.1938C>T	11.37:g.65304578C>T		NA	A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	37		.	.	.	.	.	.	.	.	.	.	C	2.210	-0.380844	0.05000	.	.	ENSG00000142186	ENST00000417543	.	.	.	5.15	-9.27	0.00659	.	.	.	.	.	T	0.49677	0.1571	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60378	-0.7275	5	0.40728	T	0.16	-4.8276	6.8351	0.23931	0.1907:0.3926:0.0:0.4168	.	.	.	.	M	331	.	ENSP00000393598:T331M	T	+	2	0	SCYL1	65061154	0.000000	0.05858	0.054000	0.19295	0.339000	0.28857	-4.035000	0.00309	-1.521000	0.01771	-1.384000	0.01168	ACG	SCYL1-005	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000389161.2		+	ENST00000524944.1	Silent	SNP	11 : 65304578 - 65304578 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	307	41
MIXL1	83881	broad.mit.edu	37	1	226413401	226413401	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226413401A>G	ENST00000366810.5	+	2	651	c.587A>G	c.(586-588)gAc>gGc	p.D196G	MIXL1_ENST00000542034.1_Missense_Mutation_p.D204G|MIXL1_ENST00000557734.1_Intron			Q9H2W2	MIXL1_HUMAN	Mix paired-like homeobox	196					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		GGCATCTCTGACTCTAGCTCC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(72;1302 1881 20981 22800)							NA				0													91	95	94			NA	NA	1		NA											NA				226413401		2203	4300	6503	SO:0001583	missense			AF211891	CCDS1552.1, CCDS60432.1	1q42.12	2011-06-20	2011-06-01		ENSG00000185155	ENSG00000185155	83881	83881		Homeoboxes / PRD class	13363	protein-coding gene	gene with protein product		609852	Mix1 homeobox (Xenopus laevis)-like 1, Mix1 homeobox-like 1 (Xenopus laevis)		NA	12095687, 12070013	Standard		NM_031944	NA	Approved	MILD1, MIXL	uc010pvm.2	Q9H2W2	OTTHUMG00000037558	ENST00000366810.5:c.587A>G	1.37:g.226413401A>G	ENSP00000355775:p.Asp196Gly	NA		37	CCDS1552.1	.	.	.	.	.	.	.	.	.	.	A	10.41	1.341473	0.24339	.	.	ENSG00000185155	ENST00000542034;ENST00000366810	T;T	0.15718	2.4;2.4	5.73	1.64	0.23874	.	0.898506	0.09278	N	0.824101	T	0.08447	0.0210	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41538	-0.9503	10	0.19590	T	0.45	-1.7763	3.934	0.09298	0.6419:0.0:0.1909:0.1672	.	196	Q9H2W2	MIXL1_HUMAN	G	204;196	ENSP00000442439:D204G;ENSP00000355775:D196G	ENSP00000355775:D196G	D	+	2	0	MIXL1	224480024	0.001000	0.12720	0.003000	0.11579	0.956000	0.61745	0.696000	0.25541	0.413000	0.25759	0.533000	0.62120	GAC	MIXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091526.3		+	ENST00000366810.5	Missense_Mutation	SNP	1 : 226413401 - 226413401 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	702	188
CDKAL1	54901	broad.mit.edu	37	6	20546630	20546630	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:20546630G>A	ENST00000378610.1	+	1	59	c.49G>A	c.(49-51)Gtg>Atg	p.V17M	CDKAL1_ENST00000274695.4_Missense_Mutation_p.V17M|CDKAL1_ENST00000378624.4_5'UTR			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	17					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			CGAAGATATCGTGTCTCAGGA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	120	122			NA	NA	6		NA											NA				20546630		2203	4300	6503	SO:0001583	missense			AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996	54901	54901			21050	protein-coding gene	gene with protein product		611259			NA		Standard	NM_017774	NM_017774	NA	Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.49G>A	6.37:g.20546630G>A	ENSP00000367873:p.Val17Met	NA	A8K6S0|Q6P385|Q6ZR27|Q9NXB3	37	CCDS4546.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.137874	0.56936	.	.	ENSG00000145996	ENST00000274695;ENST00000378610	T;T	0.47528	0.84;0.84	5.5	4.62	0.57501	.	0.064498	0.64402	D	0.000009	T	0.47710	0.1460	M	0.67397	2.05	0.80722	D	1	P;D	0.54397	0.936;0.966	P;P	0.52672	0.528;0.706	T	0.55412	-0.8145	10	0.66056	D	0.02	.	13.5669	0.61824	0.0751:0.0:0.9249:0.0	.	17;17	Q5VV42;Q5VV42-3	CDKAL_HUMAN;.	M	17	ENSP00000274695:V17M;ENSP00000367873:V17M	ENSP00000274695:V17M	V	+	1	0	CDKAL1	20654609	1.000000	0.71417	0.946000	0.38457	0.293000	0.27360	3.994000	0.56994	1.529000	0.49120	0.655000	0.94253	GTG	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039986.1		+	ENST00000378610.1	Missense_Mutation	SNP	6 : 20546630 - 20546630 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	454	93
ABHD12	26090	broad.mit.edu	37	20	25288673	25288673	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25288673G>A	ENST00000339157.5	-	9	1068	c.796C>T	c.(796-798)Cca>Tca	p.P266S	ABHD12_ENST00000481556.1_5'UTR|ABHD12_ENST00000376542.3_Missense_Mutation_p.P266S	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	266						integral to membrane	acylglycerol lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						AGGGCATCTGGAGGCGTCTCT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	64	64			NA	NA	20		NA											NA				25288673		2203	4300	6503	SO:0001583	missense			AL117442	CCDS13172.1, CCDS42857.1	20p11.21	2007-04-24	2006-03-10	2006-03-10	ENSG00000100997	ENSG00000100997	26090	26090		Abhydrolase domain containing	15868	protein-coding gene	gene with protein product		613599	chromosome 20 open reading frame 22	C20orf22	NA		Standard	NM_015600	NM_015600	NA	Approved	DKFZP434P106, dJ965G21.2, BEM46L2, ABHD12A	uc002wuq.3	Q8N2K0	OTTHUMG00000032121	ENST00000339157.5:c.796C>T	20.37:g.25288673G>A	ENSP00000341408:p.Pro266Ser	NA	A6NED4|A6NJ90|A8K450|B4DE71|Q5T710|Q5T711|Q96CR1|Q9BX05|Q9NPX7|Q9UFV6	37	CCDS42857.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714331	0.89112	.	.	ENSG00000100997	ENST00000376542;ENST00000339157;ENST00000526543	T;T	0.22945	1.98;1.93	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.53883	0.1824	M	0.74546	2.27	0.80722	D	1	P;D;D	0.89917	0.876;1.0;1.0	P;D;D	0.91635	0.646;0.999;0.988	T	0.50311	-0.8843	10	0.51188	T	0.08	-21.0005	19.2866	0.94077	0.0:0.0:1.0:0.0	.	228;266;266	Q8N2K0-3;Q8N2K0;Q8N2K0-2	.;ABD12_HUMAN;.	S	266;266;228	ENSP00000365725:P266S;ENSP00000341408:P266S	ENSP00000341408:P266S	P	-	1	0	ABHD12	25236673	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	8.635000	0.91006	2.884000	0.98904	0.655000	0.94253	CCA	ABHD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078423.2		-	ENST00000339157.5	Missense_Mutation	SNP	20 : 25288673 - 25288673 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	396	50
GJC2	57165	broad.mit.edu	37	1	228345534	228345534	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228345534G>T	ENST00000366714.2	+	2	250	c.75G>T	c.(73-75)aaG>aaT	p.K25N		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	25					cell death	connexon complex|integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				TCGTGGGCAAGGTGTGGCTCA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	34	41			NA	NA	1		NA											NA				228345534		2199	4299	6498	SO:0001583	missense			AF014643	CCDS1569.1	1q41-q42	2009-01-02	2007-12-14	2007-11-06	ENSG00000198835	ENSG00000198835	57165	57165		Ion channels / Gap junction proteins (connexins)	17494	protein-coding gene	gene with protein product	connexin 47	608803	gap junction protein, alpha 12, 47kDa	GJA12	NA	19056803	Standard	NM_020435	NM_020435	NA	Approved	CX47, CX46.6, SPG44	uc001hsk.3	Q5T442	OTTHUMG00000039771	ENST00000366714.2:c.75G>T	1.37:g.228345534G>T	ENSP00000355675:p.Lys25Asn	NA	O43440|Q7Z7J2|Q8IWJ9	37	CCDS1569.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217468	0.58560	.	.	ENSG00000198835	ENST00000366714	D	0.99388	-5.81	4.23	2.32	0.28847	Connexin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99381	0.9782	M	0.90870	3.155	0.54753	D	0.999986	D	0.89917	1.0	D	0.87578	0.998	D	0.99755	1.1019	10	0.87932	D	0	.	9.419	0.38539	0.1773:0.0:0.8227:0.0	.	25	Q5T442	CXG2_HUMAN	N	25	ENSP00000355675:K25N	ENSP00000355675:K25N	K	+	3	2	GJC2	226412157	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	3.502000	0.53332	0.422000	0.26005	0.491000	0.48974	AAG	GJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095985.1		+	ENST00000366714.2	Missense_Mutation	SNP	1 : 228345534 - 228345534 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	90	17
FILIP1L	11259	broad.mit.edu	37	3	99567303	99567303	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:99567303C>T	ENST00000331335.5	-	5	3687	c.3217G>A	c.(3217-3219)Gct>Act	p.A1073T	CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.A649T|FILIP1L_ENST00000471562.1_Missense_Mutation_p.A833T|FILIP1L_ENST00000354552.3_Missense_Mutation_p.A1073T|FILIP1L_ENST00000383694.2_Missense_Mutation_p.A833T|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000476723.1_Intron	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	1073						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CTGGCTACAGCTTGCATGTAA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													238	241	240			NA	NA	3		NA											NA				99567303		2097	4233	6330	SO:0001583	missense				CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386	11259	11259			24589	protein-coding gene	gene with protein product	downregulated in ovarian cancer 1, GPBP-interacting protein of 130 kDa	612993			NA	8314147, 15935955, 21832087	Standard	NM_014890	NM_001282793	NA	Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000331335.5:c.3217G>A	3.37:g.99567303C>T	ENSP00000327880:p.Ala1073Thr	NA	B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	37	CCDS43118.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524408	0.27299	.	.	ENSG00000168386	ENST00000477258;ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T;T	0.24538	2.24;1.92;1.92;2.24;1.92;1.85	5.93	5.93	0.95920	.	0.000000	0.52532	D	0.000079	T	0.16171	0.0389	N	0.22421	0.69	0.39866	D	0.973442	B;B	0.31193	0.312;0.208	B;B	0.29524	0.103;0.048	T	0.10965	-1.0607	10	0.11485	T	0.65	-11.442	12.7881	0.57518	0.0:0.9256:0.0:0.0744	.	1073;1073	Q4L180-2;Q4L180	.;FIL1L_HUMAN	T	52;1073;649;833;1073;833;819;833	ENSP00000346560:A1073T;ENSP00000417774:A649T;ENSP00000419642:A833T;ENSP00000327880:A1073T;ENSP00000373192:A833T;ENSP00000419874:A833T	ENSP00000327880:A1073T	A	-	1	0	FILIP1L	101049993	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.273000	0.43381	2.826000	0.97356	0.655000	0.94253	GCT	FILIP1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353070.1		-	ENST00000331335.5	Missense_Mutation	SNP	3 : 99567303 - 99567303 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	989	179
MYH8	4626	broad.mit.edu	37	17	10293915	10293915	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10293915T>A	ENST00000403437.2	-	40	5764	c.5670A>T	c.(5668-5670)gaA>gaT	p.E1890D	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1890					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CATTGGATTGTTCCTCCTAAG	0.433		NA							Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	85	84			NA	NA	17		NA											NA				10293915		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020	4626	4626		Myosins / Myosin superfamily : Class II	7578	protein-coding gene	gene with protein product		160741	myosin, heavy polypeptide 8, skeletal muscle, perinatal		NA	2373371	Standard	NM_002472	NM_002472	NA	Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5670A>T	17.37:g.10293915T>A	ENSP00000384330:p.Glu1890Asp	NA	Q14910	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.108485	0.77096	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.81996	-1.56	5.15	0.555	0.17247	Myosin tail (1);	0.000000	0.42172	U	0.000741	D	0.90930	0.7149	M	0.92833	3.35	0.40283	D	0.978417	D	0.54207	0.965	D	0.65573	0.936	D	0.89785	0.3964	10	0.72032	D	0.01	.	9.6578	0.39936	0.0:0.4681:0.0:0.5319	.	1890	P13535	MYH8_HUMAN	D	1890	ENSP00000384330:E1890D	ENSP00000252173:E1890D	E	-	3	2	MYH8	10234640	0.026000	0.19158	0.998000	0.56505	0.921000	0.55340	-0.867000	0.04241	-0.094000	0.12374	0.528000	0.53228	GAA	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252724.2		-	ENST00000403437.2	Missense_Mutation	SNP	17 : 10293915 - 10293915 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	580	94
IGSF22	283284	broad.mit.edu	37	11	18741319	18741319	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18741319C>T	ENST00000513874.1	-	7	779	c.640G>A	c.(640-642)Gac>Aac	p.D214N	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	214	Lys-rich.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CCCCGAAAGTCGGTGAAACCA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ASN/ASP	5,3725		0,5,1860	174	171	172		640	3.3	0.1	11		172	25,8191		0,25,4083	yes	missense	IGSF22	NM_173588.3	23	0,30,5943	TT,TC,CC	NA	0.3043,0.134,0.2511	probably-damaging	214/1327	18741319	30,11916	1865	4108	5973	SO:0001583	missense			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057	283284	283284		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	26750	protein-coding gene	gene with protein product					NA		Standard	NM_173588	NM_173588	NA	Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.640G>A	11.37:g.18741319C>T	ENSP00000421191:p.Asp214Asn	NA	A6NNA0	37	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797221	0.70567	0.00134	0.003043	ENSG00000179057	ENST00000513874	T	0.60672	0.17	5.15	3.29	0.37713	.	0.177861	0.26804	N	0.022415	T	0.51415	0.1673	M	0.78285	2.405	0.21064	N	0.999792	D	0.56521	0.976	B	0.41174	0.349	T	0.47471	-0.9115	10	0.24483	T	0.36	.	6.0508	0.19785	0.15:0.6882:0.0:0.1618	.	214	D6RGV7	.	N	214	ENSP00000421191:D214N	ENSP00000322422:D214N	D	-	1	0	IGSF22	18697895	0.804000	0.28969	0.134000	0.22075	0.949000	0.60115	1.415000	0.34748	0.578000	0.29487	0.650000	0.86243	GAC	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360850.2		-	ENST00000513874.1	Missense_Mutation	SNP	11 : 18741319 - 18741319 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1000	227
FBXO25	26260	broad.mit.edu	37	8	418787	418787	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:418787G>A	ENST00000276326.5	+	11	1206	c.1087G>A	c.(1087-1089)Gac>Aac	p.D363N	FBXO25_ENST00000352684.2_Missense_Mutation_p.D287N|FBXO25_ENST00000382824.1_Missense_Mutation_p.D287N|FBXO25_ENST00000350302.3_Missense_Mutation_p.D354N	NM_183421.1	NP_904357.1	Q8TCJ0	FBX25_HUMAN	F-box protein 25	363						nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		GCACTTCATCGACCTCTTCAA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	52	53			NA	NA	8		NA											NA				418787		2203	4300	6503	SO:0001583	missense			AF174605	CCDS5952.1, CCDS5953.1, CCDS5954.1	8p23.3	2007-03-30	2004-06-15		ENSG00000147364	ENSG00000147364	26260	26260		F-boxes /  other	13596	protein-coding gene	gene with protein product		609098	F-box only protein 25		NA	10531035, 10531037	Standard	NM_012173	NM_012173	NA	Approved	FBX25	uc003wox.3	Q8TCJ0	OTTHUMG00000090341	ENST00000276326.5:c.1087G>A	8.37:g.418787G>A	ENSP00000276326:p.Asp363Asn	NA	Q6PJ83|Q7Z4V4|Q9UKB8	37	CCDS5953.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567295	0.65651	.	.	ENSG00000147364	ENST00000350302;ENST00000352684;ENST00000276326;ENST00000447233;ENST00000382824	T;T	0.18338	2.22;2.25	5.73	5.73	0.89815	.	0.100946	0.64402	D	0.000001	T	0.33265	0.0857	L	0.42686	1.345	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	T	0.01382	-1.1369	10	0.16420	T	0.52	-37.9512	17.3742	0.87387	0.0:0.0:1.0:0.0	.	287;354;363	Q8TCJ0-3;Q8TCJ0-2;Q8TCJ0	.;.;FBX25_HUMAN	N	354;287;363;326;287	ENSP00000342077:D354N;ENSP00000276326:D363N	ENSP00000276326:D363N	D	+	1	0	FBXO25	408787	1.000000	0.71417	0.979000	0.43373	0.978000	0.69477	4.992000	0.63889	2.702000	0.92279	0.467000	0.42956	GAC	FBXO25-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206710.2		+	ENST00000276326.5	Missense_Mutation	SNP	8 : 418787 - 418787 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	236	38
SCAF11	9169	broad.mit.edu	37	12	46321115	46321115	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46321115C>T	ENST00000465950.1	-	1	2633	c.1424G>A	c.(1423-1425)cGa>cAa	p.R475Q	SCAF11_ENST00000369367.3_Missense_Mutation_p.R790Q|SCAF11_ENST00000549162.1_Missense_Mutation_p.R598Q|SCAF11_ENST00000419565.2_Missense_Mutation_p.R790Q			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	790					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TCTAGATCTTCGAGTACGAGG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	179	179			NA	NA	12		NA											NA				46321115		2203	4300	6503	SO:0001583	missense			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218	9169	9169		RING-type (C3HC4) zinc fingers	10784	protein-coding gene	gene with protein product		603668	splicing factor, arginine/serine-rich 2, interacting protein, serine/arginine-rich splicing factor 2, interacting protein	SFRS2IP, SRSF2IP	NA	9224939, 9447963	Standard	NM_004719	NM_004719	NA	Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000465950.1:c.1424G>A	12.37:g.46321115C>T	ENSP00000449812:p.Arg475Gln	NA	A6NEU9|A6NLW5|Q8IW59	37		.	.	.	.	.	.	.	.	.	.	C	19.98	3.926837	0.73327	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T;T	0.69685	0.95;1.67;0.94;1.67;-0.42	5.84	5.84	0.93424	.	0.000000	0.56097	D	0.000032	T	0.79575	0.4469	M	0.62723	1.935	0.33235	D	0.556467	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	D	0.84366	0.0541	10	0.62326	D	0.03	-11.8117	14.9211	0.70838	0.1431:0.8569:0.0:0.0	.	598;790	F8VXG7;Q99590	.;SCAFB_HUMAN	Q	475;790;598;790;730	ENSP00000449812:R475Q;ENSP00000358374:R790Q;ENSP00000448864:R598Q;ENSP00000413036:R790Q;ENSP00000446746:R730Q	ENSP00000358374:R790Q	R	-	2	0	SCAF11	44607382	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.479000	0.66813	2.775000	0.95449	0.655000	0.94253	CGA	SCAF11-004	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000313995.2		-	ENST00000465950.1	Missense_Mutation	SNP	12 : 46321115 - 46321115 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	626	114
CCDC126	90693	broad.mit.edu	37	7	23650947	23650947	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23650947A>T	ENST00000486109.1	+	0	579				CCDC126_ENST00000410069.1_Missense_Mutation_p.I5F|CCDC126_ENST00000307471.3_Missense_Mutation_p.I5F|CCDC126_ENST00000409765.1_Missense_Mutation_p.I5F			Q96EE4	CC126_HUMAN	coiled-coil domain containing 126	NA						extracellular region				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						GTTTTTTACAATCTCAAGAAA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	75	75			NA	NA	7		NA											NA				23650947		2203	4300	6503	SO:0001624	3_prime_UTR_variant			BC012427	CCDS5384.1	7p15.3	2006-08-15			ENSG00000169193	ENSG00000169193	90693	90693			22398	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_138771	NM_138771	NA	Approved	FLJ23031	uc003swl.3	Q96EE4	OTTHUMG00000128461	ENST00000486109.1:c.*576A>T	7.37:g.23650947A>T		NA	A8K1J6|Q6UWP1|Q75MQ6	37		.	.	.	.	.	.	.	.	.	.	A	9.202	1.028699	0.19512	.	.	ENSG00000169193	ENST00000307471;ENST00000409765;ENST00000448353;ENST00000410069	.	.	.	5.65	2.92	0.33932	.	0.112631	0.64402	D	0.000009	T	0.15219	0.0367	N	0.02315	-0.6	0.37480	D	0.915954	B	0.02656	0.0	B	0.04013	0.001	T	0.30563	-0.9974	9	0.02654	T	1	-17.6699	5.3688	0.16129	0.4772:0.118:0.0:0.4048	.	5	Q96EE4	CC126_HUMAN	F	5	.	ENSP00000304355:I5F	I	+	1	0	CCDC126	23617472	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	2.417000	0.44653	2.150000	0.67090	0.455000	0.32223	ATC	CCDC126-009	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000327397.1		+	ENST00000486109.1	3'UTR	SNP	7 : 23650947 - 23650947 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	302	63
CTC1	80169	broad.mit.edu	37	17	8135104	8135104	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8135104G>A	ENST00000315684.8	-	14	2422	c.2415C>T	c.(2413-2415)gtC>gtT	p.V805V		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	805					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CAAACCAGCGGACTGAAGAGC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	79	77			NA	NA	17		NA											NA				8135104		1970	4154	6124	SO:0001819	synonymous_variant			AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971	80169	80169			26169	protein-coding gene	gene with protein product	conserved telomere maintenance component 1, alpha accessory factor 132, conserved telomere capping protein 1	613129	tmp494178, chromosome 17 open reading frame 68	C17orf68	NA	19854130, 19854131	Standard	NM_025099	NM_025099	NA	Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.2415C>T	17.37:g.8135104G>A		NA	B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	37	CCDS42259.1																																																																																			CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442012.1		-	ENST00000315684.8	Silent	SNP	17 : 8135104 - 8135104 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	76
ITIH5	80760	broad.mit.edu	37	10	7618934	7618934	+	Missense_Mutation	SNP	C	C	T	rs112992012	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7618934C>T	ENST00000256861.6	-	10	1538	c.1460G>A	c.(1459-1461)cGc>cAc	p.R487H	ITIH5_ENST00000397146.2_Missense_Mutation_p.R487H|ITIH5_ENST00000397145.2_Missense_Mutation_p.R487H|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Missense_Mutation_p.R273H|ITIH5_ENST00000446830.2_Missense_Mutation_p.R269H	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	487					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.R487H(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ATAATCGATGCGGATGTCAGA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)						C	HIS/ARG,HIS/ARG,HIS/ARG	4,4402	8.1+/-20.4	0,4,2199	71	69	69		1460,1460,818	2.7	0.5	10	dbSNP_132	69	0,8600		0,0,4300	yes	missense,missense,missense	ITIH5	NM_001001851.2,NM_030569.6,NM_032817.5	29,29,29	0,4,6499	TT,TC,CC	NA	0.0,0.0908,0.0308	benign,benign,benign	487/703,487/943,273/729	7618934	4,13002	2203	4300	6503	SO:0001583	missense					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243	80760	80760			21449	protein-coding gene	gene with protein product		609783	inter-alpha (globulin) inhibitor H5		NA	14744536	Standard	NM_030569	NM_001001851	NA	Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1460G>A	10.37:g.7618934C>T	ENSP00000256861:p.Arg487His	NA	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	37		.	.	.	.	.	.	.	.	.	.	C	10.20	1.285262	0.23478	9.08E-4	0.0	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76	5.57	2.73	0.32206	.	0.000000	0.85682	D	0.000000	T	0.09555	0.0235	.	.	.	0.42656	D	0.993461	B;B;B	0.32604	0.008;0.377;0.224	B;B;B	0.27796	0.027;0.038;0.083	T	0.11743	-1.0575	9	0.62326	D	0.03	-23.5834	10.6681	0.45743	0.0:0.7919:0.0:0.2081	.	487;487;273	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	H	487;487;273;269;487	ENSP00000256861:R487H;ENSP00000380333:R487H;ENSP00000298441:R273H;ENSP00000387969:R269H;ENSP00000380332:R487H	ENSP00000256861:R487H	R	-	2	0	ITIH5	7658940	0.992000	0.36948	0.466000	0.27168	0.079000	0.17450	2.988000	0.49386	0.304000	0.22809	-0.448000	0.05591	CGC	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000046688.1		-	ENST00000256861.6	Missense_Mutation	SNP	10 : 7618934 - 7618934 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	418	34
SCARA3	51435	broad.mit.edu	37	8	27514340	27514340	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27514340A>G	ENST00000301904.3	+	4	288	c.268A>G	c.(268-270)Acc>Gcc	p.T90A	SCARA3_ENST00000337221.4_Missense_Mutation_p.T90A	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	90					response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		CATCTCCTTGACCCAGTCTAT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	111	114			NA	NA	8		NA											NA				27514340		2203	4300	6503	SO:0001583	missense			AB007829	CCDS34870.1, CCDS34871.1	8p21	2010-03-24			ENSG00000168077	ENSG00000168077	51435	51435			19000	protein-coding gene	gene with protein product	macrophage scavenger receptor-like 1	602728			NA	9747040, 9580669	Standard	NM_016240	NM_182826	NA	Approved	CSR1, CSR, MSLR1, APC7, MSRL1	uc003xga.1	Q6AZY7	OTTHUMG00000163898	ENST00000301904.3:c.268A>G	8.37:g.27514340A>G	ENSP00000301904:p.Thr90Ala	NA	Q9UM15|Q9UM16	37	CCDS34871.1	.	.	.	.	.	.	.	.	.	.	A	6.616	0.482141	0.12581	.	.	ENSG00000168077	ENST00000337221;ENST00000301904	T;D	0.90444	2.63;-2.67	5.81	2.65	0.31530	.	0.369337	0.26119	N	0.026238	T	0.78534	0.4298	N	0.24115	0.695	0.22424	N	0.999119	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.59500	-0.7443	10	0.17369	T	0.5	-11.845	2.8434	0.05536	0.3555:0.0:0.4459:0.1986	.	90;90	Q6AZY7-2;Q6AZY7	.;SCAR3_HUMAN	A	90	ENSP00000337985:T90A;ENSP00000301904:T90A	ENSP00000301904:T90A	T	+	1	0	SCARA3	27570259	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	1.245000	0.32790	0.788000	0.33755	-0.242000	0.12053	ACC	SCARA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376258.2		+	ENST00000301904.3	Missense_Mutation	SNP	8 : 27514340 - 27514340 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	620	107
NIPBL	25836	broad.mit.edu	37	5	37051924	37051924	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37051924C>T	ENST00000282516.8	+	41	7497	c.6998C>T	c.(6997-6999)gCt>gTt	p.A2333V	NIPBL_ENST00000448238.2_Missense_Mutation_p.A2333V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2333					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CCAGAACCTGCTATGCGGAAC	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	89	87			NA	NA	5		NA											NA				37051924		2203	4300	6503	SO:0001583	missense			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190	25836	25836			28862	protein-coding gene	gene with protein product	sister chromatid cohesion 2 homolog (yeast)	608667			NA	15146186, 15146185	Standard	NM_015384	NM_133433	NA	Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.6998C>T	5.37:g.37051924C>T	ENSP00000282516:p.Ala2333Val	NA	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452098	0.43531	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.65916	-0.18;-0.18	5.69	5.69	0.88448	Armadillo-like helical (1);Armadillo-type fold (1);	0.177968	0.49916	D	0.000135	T	0.41949	0.1181	N	0.04090	-0.28	0.43110	D	0.99481	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.15052	0.009;0.012;0.005	T	0.37663	-0.9696	10	0.11794	T	0.64	-12.0814	19.8167	0.96571	0.0:1.0:0.0:0.0	.	2333;2333;2333	Q6IEH8;Q6KC79;Q6KC79-2	.;NIPBL_HUMAN;.	V	2333	ENSP00000282516:A2333V;ENSP00000406266:A2333V	ENSP00000282516:A2333V	A	+	2	0	NIPBL	37087681	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.399000	0.44495	2.685000	0.91497	0.557000	0.71058	GCT	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207582.1		+	ENST00000282516.8	Missense_Mutation	SNP	5 : 37051924 - 37051924 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	342	73
ACTR10	55860	broad.mit.edu	37	14	58697142	58697142	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58697142G>A	ENST00000254286.4	+	11	894	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	272						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						AATTCTTTTTGAACAAGATAA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	91	89			NA	NA	14		NA											NA				58697142		2203	4294	6497	SO:0001583	missense			AF220190	CCDS32090.1	14q23.1	2014-08-08			ENSG00000131966	ENSG00000131966	55860	55860			17372	protein-coding gene	gene with protein product					NA	12857853	Standard		NM_018477	NA	Approved	HARP11, ACTR11, Arp11	uc001xdf.3	Q9NZ32	OTTHUMG00000171049	ENST00000254286.4:c.814G>A	14.37:g.58697142G>A	ENSP00000254286:p.Glu272Lys	NA	Q9H9Y5|Q9NWY2	37	CCDS32090.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.730951	0.89390	.	.	ENSG00000131966	ENST00000543474;ENST00000254286	D	0.94330	-3.4	5.74	5.74	0.90152	.	0.088942	0.85682	D	0.000000	D	0.91885	0.7431	L	0.39692	1.235	0.80722	D	1	B;B	0.27910	0.193;0.193	B;B	0.34536	0.185;0.129	D	0.89792	0.3969	10	0.87932	D	0	-8.36	18.9694	0.92709	0.0:0.0:1.0:0.0	.	272;272	Q53H79;Q9NZ32	.;ARP10_HUMAN	K	272	ENSP00000254286:E272K	ENSP00000254286:E272K	E	+	1	0	ACTR10	57766895	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.176000	0.94839	2.731000	0.93534	0.549000	0.68633	GAA	ACTR10-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411405.1		+	ENST00000254286.4	Missense_Mutation	SNP	14 : 58697142 - 58697142 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	503	87
SLC45A2	51151	broad.mit.edu	37	5	33944779	33944779	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33944779C>T	ENST00000296589.4	-	7	1713	c.1567G>A	c.(1567-1569)Gct>Act	p.A523T	SLC45A2_ENST00000342059.3_Missense_Mutation_p.A464T	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	523					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						ACAAAGAGAGCGACAAAGCAA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(31;380 859 8490 22203 49048)							NA				0								C	THR/ALA	0,4406		0,0,2203	67	62	64		1567	5.7	1	5		64	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC45A2	NM_016180.3	58	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	possibly-damaging	523/531	33944779	1,13005	2203	4300	6503	SO:0001583	missense			AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175	51151	51151		Solute carriers	16472	protein-coding gene	gene with protein product		606202	membrane associated transporter	MATP	NA	11916009, 11574907	Standard	NM_016180	NM_001012509	NA	Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.1567G>A	5.37:g.33944779C>T	ENSP00000296589:p.Ala523Thr	NA	Q6P2P0|Q9BTM3	37	CCDS3901.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484837	0.84854	0.0	1.16E-4	ENSG00000164175	ENST00000296589;ENST00000342059	D;T	0.88818	-2.43;-1.45	5.74	5.74	0.90152	Major facilitator superfamily domain, general substrate transporter (1);	0.113165	0.64402	D	0.000012	D	0.91784	0.7401	M	0.72479	2.2	0.80722	D	1	D	0.53462	0.96	P	0.51079	0.658	D	0.90334	0.4354	10	0.35671	T	0.21	-6.3658	19.9265	0.97104	0.0:1.0:0.0:0.0	.	523	Q9UMX9	S45A2_HUMAN	T	523;464	ENSP00000296589:A523T;ENSP00000341014:A464T	ENSP00000296589:A523T	A	-	1	0	SLC45A2	33980536	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.755000	0.68750	2.723000	0.93209	0.591000	0.81541	GCT	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207443.2		-	ENST00000296589.4	Missense_Mutation	SNP	5 : 33944779 - 33944779 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	228	34
ZNF831	128611	broad.mit.edu	37	20	57829178	57829178	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57829178C>T	ENST00000371030.2	+	5	4414	c.4414C>T	c.(4414-4416)Cct>Tct	p.P1472S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1472						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGCTCAAAGGCCTTCTTCCTT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	91	90			NA	NA	20		NA											NA				57829178		1987	4179	6166	SO:0001583	missense			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203	128611	128611			16167	protein-coding gene	gene with protein product			chromosome 20 open reading frame 174	C20orf174	NA		Standard	NM_178457	NM_178457	NA	Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4414C>T	20.37:g.57829178C>T	ENSP00000360069:p.Pro1472Ser	NA	Q5TDR4|Q8TCP0	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	7.983	0.751699	0.15778	.	.	ENSG00000124203	ENST00000371030	T	0.11385	2.78	5.69	2.71	0.32032	.	0.444750	0.21457	N	0.074226	T	0.10252	0.0251	M	0.61703	1.905	0.09310	N	0.999999	B	0.28605	0.217	B	0.21151	0.033	T	0.21381	-1.0247	10	0.29301	T	0.29	-0.0796	7.2263	0.26018	0.0:0.7333:0.0:0.2667	.	1472	Q5JPB2	ZN831_HUMAN	S	1472	ENSP00000360069:P1472S	ENSP00000360069:P1472S	P	+	1	0	ZNF831	57262573	0.000000	0.05858	0.091000	0.20842	0.040000	0.13550	0.049000	0.14099	0.754000	0.32968	0.650000	0.86243	CCT	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079916.2		+	ENST00000371030.2	Missense_Mutation	SNP	20 : 57829178 - 57829178 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	568	89
CD19	930	broad.mit.edu	37	16	28943379	28943379	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28943379C>T	ENST00000324662.3	+	1	102	c.58C>T	c.(58-60)Ccc>Tcc	p.P20S	CD19_ENST00000567541.1_Missense_Mutation_p.P20S|CD19_ENST00000538922.1_Missense_Mutation_p.P20S			P15391	CD19_HUMAN	CD19 molecule	20	Ig-like C2-type 1.				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						GGAAGTCAGGCCCGAGGAACC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	109	113			NA	NA	16		NA											NA				28943379		2197	4300	6497	SO:0001583	missense				CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455	930	930		CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	1633	protein-coding gene	gene with protein product		107265	CD19 antigen		NA		Standard		NM_001770	NA	Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.58C>T	16.37:g.28943379C>T	ENSP00000313419:p.Pro20Ser	NA	A0N0P9|Q96S68|Q9BRD6	37	CCDS10644.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424646	0.62733	.	.	ENSG00000177455	ENST00000538922;ENST00000380673;ENST00000324662	T;T	0.35789	1.29;1.29	5.24	3.16	0.36331	Immunoglobulin-like (1);	0.131330	0.35151	N	0.003401	T	0.22975	0.0555	N	0.24115	0.695	0.28910	N	0.892784	B;B	0.26672	0.129;0.156	B;B	0.30105	0.067;0.111	T	0.13072	-1.0523	10	0.49607	T	0.09	-13.4691	6.5767	0.22571	0.0:0.7214:0.1816:0.097	.	20;20	F5H635;P15391	.;CD19_HUMAN	S	20;5;20	ENSP00000437940:P20S;ENSP00000313419:P20S	ENSP00000313419:P20S	P	+	1	0	CD19	28850880	0.000000	0.05858	0.856000	0.33681	0.030000	0.12068	-0.037000	0.12164	1.212000	0.43366	0.558000	0.71614	CCC	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214152.2		+	ENST00000324662.3	Missense_Mutation	SNP	16 : 28943379 - 28943379 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	688	54
SCNN1G	6340	broad.mit.edu	37	16	23226069	23226069	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23226069C>T	ENST00000300061.2	+	12	1673	c.1530C>T	c.(1528-1530)gaC>gaT	p.D510D		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	510					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TCTACAAAGACCTGAACCAGA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	83	84			NA	NA	16		NA											NA				23226069		2197	4300	6497	SO:0001819	synonymous_variant			U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828	6340	6340		Ion channels / Sodium channel, nonvoltage-gated, Sodium channels	10602	protein-coding gene	gene with protein product		600761	sodium channel, nonvoltage-gated 1, gamma, sodium channel, non-voltage-gated 1, gamma		NA	7490094	Standard	NM_001039	NM_001039	NA	Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.1530C>T	16.37:g.23226069C>T		NA	P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	37	CCDS10608.1																																																																																			SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254496.1		+	ENST00000300061.2	Silent	SNP	16 : 23226069 - 23226069 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	303	58
LRRC27	80313	broad.mit.edu	37	10	134188732	134188732	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134188732C>T	ENST00000368614.3	+	11	1684	c.1579C>T	c.(1579-1581)Cgc>Tgc	p.R527C	LRRC27_ENST00000368610.3_Missense_Mutation_p.R465C|LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000368612.1_Missense_Mutation_p.R465C|LRRC27_ENST00000368613.4_Missense_Mutation_p.R527C|LRRC27_ENST00000475747.1_3'UTR	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	527										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AGGAAATGTTCGCAGATACCA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	58	58			NA	NA	10		NA											NA				134188732		2203	4300	6503	SO:0001583	missense			AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814	80313	80313			29346	protein-coding gene	gene with protein product					NA	11214970	Standard	XM_290462	NM_030626	NA	Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.1579C>T	10.37:g.134188732C>T	ENSP00000357603:p.Arg527Cys	NA	A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	37	CCDS31316.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.243219	0.22796	.	.	ENSG00000148814	ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610	T;T;T;T	0.17528	2.27;2.27;4.03;4.03	3.03	-3.05	0.05396	.	.	.	.	.	T	0.07234	0.0183	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33007	-0.9885	9	0.87932	D	0	.	4.3647	0.11218	0.0:0.3271:0.4023:0.2706	.	465;527	Q9C0I9-2;Q9C0I9	.;LRC27_HUMAN	C	527;527;465;465	ENSP00000357603:R527C;ENSP00000357602:R527C;ENSP00000357601:R465C;ENSP00000357599:R465C	ENSP00000357599:R465C	R	+	1	0	LRRC27	134038722	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.603000	0.02077	-0.640000	0.05495	-0.469000	0.05056	CGC	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051058.2		+	ENST00000368614.3	Missense_Mutation	SNP	10 : 134188732 - 134188732 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	288	43
BCL9L	283149	broad.mit.edu	37	11	118770898	118770898	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118770898G>A	ENST00000526143.1	-	0	3478				BCL9L_ENST00000334801.3_Missense_Mutation_p.P1045L			Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	NA					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCCGCTAGGCGGGAGGGTACC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	31	30			NA	NA	11		NA											NA				118770898		2200	4295	6495	SO:0001623	5_prime_UTR_variant			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174	283149	283149			23688	protein-coding gene	gene with protein product		609004			NA	12964048	Standard	NM_182557	NM_182557	NA	Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000526143.1:c.-2036C>T	11.37:g.118770898G>A		NA	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.97|15.97	2.988417|2.988417	0.53934|0.53934	.|.	.|.	ENSG00000186174|ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000525300;ENST00000392849;ENST00000431085|ENST00000530293	T|.	0.42513|.	0.97|.	4.38|4.38	4.38|4.38	0.52667|0.52667	.|.	0.000000|.	0.43747|.	D|.	0.000530|.	T|T	0.46347|0.46347	0.1388|0.1388	N|N	0.11560|0.11560	0.145|0.145	0.46586|0.46586	D|D	0.999118|0.999118	D;D|.	0.61080|.	0.989;0.981|.	P;B|.	0.48840|.	0.592;0.388|.	T|T	0.42632|0.42632	-0.9440|-0.9440	10|5	0.87932|.	D|.	0|.	-12.8441|-12.8441	17.1466|17.1466	0.86767|0.86767	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1040;1045|.	Q86UU0-2;Q86UU0|.	.;BCL9L_HUMAN|.	L|C	1045;1008;338;1045;1045|65	ENSP00000335320:P1045L|.	ENSP00000335320:P1045L|.	P|R	-|-	2|1	0|0	BCL9L|BCL9L	118276108|118276108	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.990000|0.990000	0.78478|0.78478	5.300000|5.300000	0.65721|0.65721	2.262000|2.262000	0.75019|0.75019	0.561000|0.561000	0.74099|0.74099	CCG|CGC	BCL9L-002	KNOWN	not_organism_supported|basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000389654.2		-	ENST00000526143.1	5'UTR	SNP	11 : 118770898 - 118770898 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	183	23
TTLL7	79739	broad.mit.edu	37	1	84373275	84373275	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:84373275C>T	ENST00000260505.8	-	16	2233	c.1856G>A	c.(1855-1857)cGc>cAc	p.R619H	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	619					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		AGAAAATGGGCGGGTGTCCCC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	89	93			NA	NA	1		NA											NA				84373275		2203	4300	6503	SO:0001583	missense			AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941	79739	79739		Tubulin tyrosine ligase-like family	26242	protein-coding gene	gene with protein product					NA	15890843	Standard	NM_024686	XM_005271208	NA	Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.1856G>A	1.37:g.84373275C>T	ENSP00000260505:p.Arg619His	NA	Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	37	CCDS690.2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012970	0.75161	.	.	ENSG00000137941	ENST00000260505;ENST00000370704;ENST00000370703	T	0.05925	3.37	5.34	5.34	0.76211	.	0.242690	0.40302	N	0.001129	T	0.06462	0.0166	M	0.64997	1.995	0.58432	D	0.999994	D	0.58620	0.983	B	0.41988	0.372	T	0.14282	-1.0478	10	0.87932	D	0	.	18.6485	0.91421	0.0:1.0:0.0:0.0	.	619	Q6ZT98	TTLL7_HUMAN	H	619;396;619	ENSP00000260505:R619H	ENSP00000260505:R619H	R	-	2	0	TTLL7	84145863	1.000000	0.71417	0.992000	0.48379	0.899000	0.52679	5.540000	0.67205	2.499000	0.84300	0.460000	0.39030	CGC	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000027498.1		-	ENST00000260505.8	Missense_Mutation	SNP	1 : 84373275 - 84373275 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	209	32
UNC5C	8633	broad.mit.edu	37	4	96104083	96104083	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96104083C>T	ENST00000453304.1	-	14	2764	c.2416G>A	c.(2416-2418)Ggg>Agg	p.G806R		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	806					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AAGATCTGCCCTTCTCCTTCC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	124	132			NA	NA	4		NA											NA				96104083		2203	4300	6503	SO:0001583	missense			AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168	8633	8633		Immunoglobulin superfamily / I-set domain containing	12569	protein-coding gene	gene with protein product		603610	unc5 (C.elegans homolog) c		NA	9126742, 9782087	Standard	NM_003728	NM_003728	NA	Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.2416G>A	4.37:g.96104083C>T	ENSP00000406022:p.Gly806Arg	NA	Q8IUT0	37	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	C	32	5.156487	0.94686	.	.	ENSG00000182168	ENST00000453304;ENST00000331502	T	0.50548	0.74	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.65565	0.2703	L	0.55743	1.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56547	-0.7961	10	0.25106	T	0.35	.	20.1338	0.98010	0.0:1.0:0.0:0.0	.	806	O95185	UNC5C_HUMAN	R	806;765	ENSP00000406022:G806R	ENSP00000328673:G765R	G	-	1	0	UNC5C	96323106	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.792000	0.85828	2.770000	0.95276	0.655000	0.94253	GGG	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253607.1		-	ENST00000453304.1	Missense_Mutation	SNP	4 : 96104083 - 96104083 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	391	97
BCL3	602	broad.mit.edu	37	19	45262730	45262730	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45262730C>A	ENST00000164227.5	+	9	1467	c.1223C>A	c.(1222-1224)cCc>cAc	p.P408H		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	408	Pro/Ser-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CAGTCTCCCCCCAGGGACCCC	0.627		NA	T	IGH@	CLL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		19	19q13	602	B-cell CLL/lymphoma 3		L	0													193	207	202			NA	NA	19		NA											NA				45262730		2203	4300	6503	SO:0001583	missense			M31732	CCDS12642.2	19q13.1-q13.2	2013-01-10			ENSG00000069399	ENSG00000069399	602	602		Ankyrin repeat domain containing	998	protein-coding gene	gene with protein product	B-cell lymphoma 3-encoded protein, B-cell leukemia/lymphoma 3, chronic lymphatic leukemia protein	109560		D19S37, BCL4	NA	1501714, 2180580	Standard	NM_005178	NM_005178	NA	Approved		uc010xxe.2	P20749	OTTHUMG00000151517	ENST00000164227.5:c.1223C>A	19.37:g.45262730C>A	ENSP00000164227:p.Pro408His	NA		37	CCDS12642.2	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650273	0.47362	.	.	ENSG00000069399	ENST00000164227	T	0.41758	0.99	4.5	3.46	0.39613	.	0.284212	0.25344	N	0.031353	T	0.31482	0.0798	L	0.27053	0.805	0.28683	N	0.904996	P	0.45283	0.855	B	0.43536	0.423	T	0.21655	-1.0239	10	0.66056	D	0.02	-0.612	9.4966	0.38993	0.0:0.8948:0.0:0.1052	.	408	P20749	BCL3_HUMAN	H	408	ENSP00000164227:P408H	ENSP00000164227:P408H	P	+	2	0	BCL3	49954570	0.972000	0.33761	0.991000	0.47740	0.913000	0.54294	1.116000	0.31221	2.022000	0.59522	0.491000	0.48974	CCC	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322976.1		+	ENST00000164227.5	Missense_Mutation	SNP	19 : 45262730 - 45262730 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2137	84
ITIH2	3698	broad.mit.edu	37	10	7788631	7788631	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7788631G>T	ENST00000379587.4	+	19	2659	c.2624G>T	c.(2623-2625)aGc>aTc	p.S875I	ITIH2_ENST00000358415.4_Missense_Mutation_p.S886I			P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	886					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CCAGAGGCCAGCATGGAAGTG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	76	81			NA	NA	10		NA											NA				7788631		2203	4300	6503	SO:0001583	missense			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655	3698	3698			6167	protein-coding gene	gene with protein product		146640	inter-alpha (globulin) inhibitor, H2 polypeptide		NA	1385302, 10100603	Standard	NM_002216	NM_002216	NA	Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000379587.4:c.2624G>T	10.37:g.7788631G>T	ENSP00000368906:p.Ser875Ile	NA	Q14659|Q15484|Q5T986	37		.	.	.	.	.	.	.	.	.	.	G	12.10	1.835992	0.32421	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.10288	2.89;2.89	5.27	2.32	0.28847	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.313882	0.37955	N	0.001869	T	0.08935	0.0221	L	0.54323	1.7	0.29012	N	0.886794	B	0.06786	0.001	B	0.14023	0.01	T	0.22347	-1.0219	10	0.39692	T	0.17	-10.9131	1.7834	0.03036	0.1497:0.2218:0.387:0.2414	.	886	P19823	ITIH2_HUMAN	I	886;875	ENSP00000351190:S886I;ENSP00000368906:S875I	ENSP00000351190:S886I	S	+	2	0	ITIH2	7828637	1.000000	0.71417	0.998000	0.56505	0.822000	0.46500	1.436000	0.34980	0.271000	0.22005	0.655000	0.94253	AGC	ITIH2-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000046679.2		+	ENST00000379587.4	Missense_Mutation	SNP	10 : 7788631 - 7788631 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	133	6
NPIPB5	100132247	broad.mit.edu	37	16	22545850	22545850	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22545850G>A	ENST00000517539.1	+	8	1621	c.1546G>A	c.(1546-1548)Gag>Aag	p.E516K	NPIPB5_ENST00000424340.1_Missense_Mutation_p.E516K|NPIPB5_ENST00000415654.1_3'UTR					nuclear pore complex interacting protein family, member B5	NA											NA						GACACCTTCCGAGCGTCAGCT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													8	6	7			NA	NA	16		NA											NA				22545850		679	1564	2243	SO:0001583	missense				CCDS45443.1	16p12.2	2013-06-11			ENSG00000243716	ENSG00000243716	100132247	100132247			37233	protein-coding gene	gene with protein product					NA		Standard	NM_001135865	NM_001135865	NA	Approved			A8MRT5	OTTHUMG00000163573	ENST00000517539.1:c.1546G>A	16.37:g.22545850G>A	ENSP00000430633:p.Glu516Lys	NA		37	CCDS45443.1	.	.	.	.	.	.	.	.	.	.	.	11.53	1.665743	0.29604	.	.	ENSG00000243716	ENST00000415833;ENST00000424340;ENST00000342168;ENST00000503072;ENST00000517539;ENST00000528249;ENST00000344223	T;T;T;T	0.18810	2.19;2.24;2.24;2.19	.	.	.	.	.	.	.	.	T	0.24624	0.0597	N	0.24115	0.695	0.09310	N	1	P;P	0.48503	0.891;0.911	P;P	0.62184	0.837;0.899	T	0.16394	-1.0404	7	0.49607	T	0.09	.	.	.	.	.	516;516	F5GWX0;A8MRT5	.;K220L_HUMAN	K	516;516;516;394;516;516;497	ENSP00000445388:E516K;ENSP00000440703:E516K;ENSP00000430633:E516K;ENSP00000431553:E516K	ENSP00000441680:E516K	E	+	1	0	RP11-368J21.2	22453351	.	.	0.003000	0.11579	0.003000	0.03518	.	.	0.073000	0.16731	0.074000	0.15403	GAG	NPIPB5-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374343.2		+	ENST00000517539.1	Missense_Mutation	SNP	16 : 22545850 - 22545850 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	3495	154
RSPO3	84870	broad.mit.edu	37	6	127440424	127440424	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127440424C>T	ENST00000356698.4	+	1	676	c.87C>T	c.(85-87)cgC>cgT	p.R29R	RSPO3_ENST00000368317.3_Silent_p.R29R	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	29						extracellular region	heparin binding		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		GGGGAAGGCGCCAGCGAAGAA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	168	163			NA	NA	6		NA											NA				127440424		2203	4300	6503	SO:0001819	synonymous_variant			BC022367	CCDS5135.1	6q22.33	2013-02-28	2011-06-29	2005-08-08	ENSG00000146374	ENSG00000146374	84870	84870		Endogenous ligands	20866	protein-coding gene	gene with protein product		610574	thrombospondin, type I, domain containing 2, R-spondin 3 homolog (Xenopus laevis)	THSD2	NA	10842357, 15469841	Standard	NM_032784	NM_032784	NA	Approved	FLJ14440	uc003qar.3	Q9BXY4	OTTHUMG00000015521	ENST00000356698.4:c.87C>T	6.37:g.127440424C>T		NA	B2RC27|Q5VTV4|Q96K87	37	CCDS5135.1																																																																																			RSPO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042111.1		+	ENST00000356698.4	Silent	SNP	6 : 127440424 - 127440424 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	649	86
KIAA0100	9703	broad.mit.edu	37	17	26943464	26943464	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26943464C>T	ENST00000528896.2	-	36	6295	c.6221G>A	c.(6220-6222)gGg>gAg	p.G2074E	SPAG5-AS1_ENST00000414744.1_RNA|SPAG5-AS1_ENST00000554154.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.G1931E|KIAA0100_ENST00000544884.1_Missense_Mutation_p.G1931E|SPAG5-AS1_ENST00000424210.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2074						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CACACCCTTCCCAGGGCCCAG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	82	82			NA	NA	17		NA											NA				26943464		2203	4300	6503	SO:0001583	missense			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202	9703	9703			28960	protein-coding gene	gene with protein product	cancer/testis antigen 101, breast cancer overexpressed gene 1	610664			NA	16289875	Standard	NM_014680	NM_014680	NA	Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.6221G>A	17.37:g.26943464C>T	ENSP00000436773:p.Gly2074Glu	NA	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	37	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421244	0.83559	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.41065	1.01;1.01	6.11	6.11	0.99139	FMP27,  C-terminal (1);	0.041590	0.85682	D	0.000000	T	0.54224	0.1845	L	0.43923	1.385	0.80722	D	1	D	0.71674	0.998	D	0.69654	0.965	T	0.34453	-0.9828	10	0.05833	T	0.94	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	2074	Q14667	K0100_HUMAN	E	2074;2044;2074;1931	ENSP00000436773:G2074E;ENSP00000446443:G1931E	ENSP00000005905:G2074E	G	-	2	0	KIAA0100	23967591	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.353000	0.66034	2.906000	0.99361	0.655000	0.94253	GGG	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390571.3		-	ENST00000528896.2	Missense_Mutation	SNP	17 : 26943464 - 26943464 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	611	120
RPS6KA2	6196	broad.mit.edu	37	6	166912074	166912074	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:166912074G>A	ENST00000405189.3	-	8	734	c.402C>T	c.(400-402)atC>atT	p.I134I	RPS6KA2_ENST00000265678.4_Silent_p.I223I|RPS6KA2_ENST00000503859.1_Silent_p.I231I|RPS6KA2_ENST00000510118.1_Silent_p.I248I|RPS6KA2_ENST00000366863.2_Silent_p.I69I|RPS6KA2_ENST00000481261.2_Silent_p.I134I			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	223	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CCATGTACTCGATCGTCCCGC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													198	130	153			NA	NA	6		NA											NA				166912074		2203	4300	6503	SO:0001819	synonymous_variant			L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242	6196	6196			10431	protein-coding gene	gene with protein product		601685	ribosomal protein S6 kinase, 90kD, polypeptide 2		NA	8141249	Standard	NM_021135	NM_001006932	NA	Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000405189.3:c.402C>T	6.37:g.166912074G>A		NA	Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	37																																																																																				RPS6KA2-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000362838.2		-	ENST00000405189.3	Silent	SNP	6 : 166912074 - 166912074 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	407	76
FAM83C	128876	broad.mit.edu	37	20	33875562	33875562	+	Silent	SNP	C	C	T	rs141723001	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33875562C>T	ENST00000374408.3	-	4	1116	c.1020G>A	c.(1018-1020)tcG>tcA	p.S340S		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	340										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			AGGGCAGGGACGACGTGGGGC	0.642		NA											C	10	0.0046	0.02	0.0028	2184	0.0017	0.9999	,	,	NA	7e-04	NA	NA	NA	0.0046	0.9904	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				0								C		111,4295	81.4+/-119.9	2,107,2094	109	88	95		1020	-2.8	0	20	dbSNP_134	95	0,8600		0,0,4300	no	coding-synonymous	FAM83C	NM_178468.4		2,107,6394	TT,TC,CC	NA	0.0,2.5193,0.8535		340/748	33875562	111,12895	2203	4300	6503	SO:0001819	synonymous_variant			AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998	128876	128876			16121	protein-coding gene	gene with protein product			chromosome 20 open reading frame 128	C20orf128	NA		Standard		NM_178468	NA	Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.1020G>A	20.37:g.33875562C>T		NA	Q14D67|Q5JWN6|Q8N276	37	CCDS13251.1																																																																																			FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078854.3		-	ENST00000374408.3	Silent	SNP	20 : 33875562 - 33875562 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	137	22
FBXO7	25793	broad.mit.edu	37	22	32894330	32894330	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32894330T>C	ENST00000266087.7	+	9	1709	c.1382T>C	c.(1381-1383)aTc>aCc	p.I461T	FBXO7_ENST00000382058.3_Missense_Mutation_p.I382T|FBXO7_ENST00000397426.1_Missense_Mutation_p.I347T	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	461					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGAGACCCAATCAGTTCACTC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	104	107			NA	NA	22		NA											NA				32894330		2203	4300	6503	SO:0001583	missense			AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225	25793	25793		F-boxes /  other, Parkinson disease	13586	protein-coding gene	gene with protein product		605648	F-box only protein 7		NA	10531035, 10531037, 19038853	Standard		NM_001257990	NA	Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.1382T>C	22.37:g.32894330T>C	ENSP00000266087:p.Ile461Thr	NA	B4DNB3|Q5TGC4|Q96HM6|Q9UF21|Q9UKT2	37	CCDS13907.1	.	.	.	.	.	.	.	.	.	.	T	14.72	2.620332	0.46736	.	.	ENSG00000100225	ENST00000266087;ENST00000382058;ENST00000397426	T;T;T	0.73258	-0.73;-0.18;-0.16	5.93	5.93	0.95920	.	0.358855	0.29558	N	0.011814	T	0.69260	0.3091	M	0.66939	2.045	0.35874	D	0.828461	B;B;B	0.29862	0.165;0.259;0.165	B;B;B	0.22753	0.027;0.041;0.027	T	0.74996	-0.3473	10	0.54805	T	0.06	-4.8952	16.3798	0.83452	0.0:0.0:0.0:1.0	.	461;382;461	A8K7F7;Q9Y3I1-2;Q9Y3I1	.;.;FBX7_HUMAN	T	461;382;347	ENSP00000266087:I461T;ENSP00000371490:I382T;ENSP00000380571:I347T	ENSP00000266087:I461T	I	+	2	0	FBXO7	31224330	.	.	0.064000	0.19789	0.984000	0.73092	.	.	2.271000	0.75665	0.533000	0.62120	ATC	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000129001.1		+	ENST00000266087.7	Missense_Mutation	SNP	22 : 32894330 - 32894330 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	591	109
SPRR2G	6706	broad.mit.edu	37	1	153122548	153122548	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153122548C>A	ENST00000368748.4	-	2	77	c.39G>T	c.(37-39)caG>caT	p.Q13H		NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G	13					keratinization	cornified envelope|cytoplasm				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGGAGGTGGCTGGCAGGGCT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	91	99			NA	NA	1		NA											NA				153122548		2203	4300	6503	SO:0001583	missense			AF333957	CCDS30868.1	1q21-q22	2008-02-05			ENSG00000159516	ENSG00000159516	NA	6706			11267	protein-coding gene	gene with protein product					NA	8325635, 11279051	Standard		NM_001014291	NA	Approved		uc009wod.2	Q9BYE4	OTTHUMG00000014399	ENST00000368748.4:c.39G>T	1.37:g.153122548C>A	ENSP00000357737:p.Gln13His	NA		37	CCDS30868.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.235718	0.22626	.	.	ENSG00000159516	ENST00000439437;ENST00000368748	T	0.40476	1.03	5.36	-1.17	0.09648	.	0.258337	0.20535	N	0.090431	T	0.11239	0.0274	.	.	.	0.22317	N	0.999202	B	0.11235	0.004	B	0.12156	0.007	T	0.22173	-1.0224	9	0.87932	D	0	-5.5941	3.6824	0.08316	0.2683:0.4183:0.0:0.3134	.	13	Q9BYE4	SPR2G_HUMAN	H	13	ENSP00000357737:Q13H	ENSP00000357737:Q13H	Q	-	3	2	SPRR2G	151389172	0.008000	0.16893	0.751000	0.31187	0.738000	0.42128	-1.227000	0.02950	-0.105000	0.12132	-0.208000	0.12717	CAG	SPRR2G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040057.1		-	ENST00000368748.4	Missense_Mutation	SNP	1 : 153122548 - 153122548 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	787	100
UMPS	7372	broad.mit.edu	37	3	124456949	124456949	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124456949C>T	ENST00000232607.2	+	3	951	c.845C>T	c.(844-846)aCt>aTt	p.T282I	UMPS_ENST00000413078.2_Missense_Mutation_p.T104I|UMPS_ENST00000538242.1_Missense_Mutation_p.T104I|UMPS_ENST00000536109.1_Missense_Mutation_p.T190I|UMPS_ENST00000498715.1_3'UTR	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	282	OMPdecase.				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)		ATGCTGAAGACTCATGTAGAT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	120	122			NA	NA	3		NA											NA				124456949		2203	4300	6503	SO:0001583	missense				CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	7372	7372	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	orotate phosphoribosyl transferase and orotidine-5'-decarboxylase	613891			NA	2767686	Standard	NM_000373	NM_000373	NA	Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.845C>T	3.37:g.124456949C>T	ENSP00000232607:p.Thr282Ile	NA	O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	37	CCDS3029.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.651757	0.67472	.	.	ENSG00000114491	ENST00000232607;ENST00000536109;ENST00000538242;ENST00000413078	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.33	3.56	0.40772	Orotidine 5&apos (2);Aldolase-type TIM barrel (1);-phosphate decarboxylase domain (2);Ribulose-phosphate binding barrel (1);	0.049005	0.85682	N	0.000000	T	0.73984	0.3657	M	0.66560	2.04	0.58432	D	0.999999	D;P;P	0.89917	1.0;0.946;0.87	D;D;D	0.77004	0.989;0.925;0.919	T	0.73487	-0.3967	10	0.52906	T	0.07	-13.1542	10.057	0.42250	0.0:0.8464:0.0:0.1536	.	104;104;282	B5LY72;B5LY70;P11172	.;.;UMPS_HUMAN	I	282;190;104;104	ENSP00000232607:T282I;ENSP00000443577:T190I;ENSP00000444988:T104I;ENSP00000397965:T104I	ENSP00000232607:T282I	T	+	2	0	UMPS	125939639	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	5.322000	0.65852	0.836000	0.34901	0.655000	0.94253	ACT	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355271.1		+	ENST00000232607.2	Missense_Mutation	SNP	3 : 124456949 - 124456949 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	512	78
TAOK2	9344	broad.mit.edu	37	16	29996816	29996816	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29996816C>A	ENST00000308893.4	+	14	2748	c.1705C>A	c.(1705-1707)Ctt>Att	p.L569I	TAOK2_ENST00000416441.2_Missense_Mutation_p.L396I|TAOK2_ENST00000279394.3_Missense_Mutation_p.L569I|TAOK2_ENST00000543033.1_Missense_Mutation_p.L569I	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	569					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCAGCACATCCTTGGGCAGCA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	22	23			NA	NA	16		NA											NA				29996816		2197	4296	6493	SO:0001583	missense			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930	9344	9344			16835	protein-coding gene	gene with protein product		613199			NA	10048485, 9786855	Standard	NM_016151	NM_016151	NA	Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1705C>A	16.37:g.29996816C>A	ENSP00000310094:p.Leu569Ile	NA	A5PKY1|A7MCZ2|B2RN35|O94957|Q6UW73|Q7LC09|Q9NSW2	37	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.418553	0.62622	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.44083	0.93;0.93;0.93	5.27	2.91	0.33838	.	0.000000	0.64402	D	0.000002	T	0.52386	0.1731	L	0.50333	1.59	0.44547	D	0.997506	D;D;P;P;D	0.76494	0.996;0.999;0.713;0.764;0.983	P;D;P;B;P	0.68483	0.824;0.958;0.614;0.345;0.771	T	0.48801	-0.9003	9	.	.	.	.	9.9385	0.41565	0.0:0.7575:0.0:0.2425	.	760;396;569;569;569	Q86V37;Q9UL54-3;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;.;TAOK2_HUMAN	I	569	ENSP00000310094:L569I;ENSP00000440336:L569I;ENSP00000279394:L569I	.	L	+	1	0	TAOK2	29904317	0.079000	0.21365	0.977000	0.42913	0.769000	0.43574	1.207000	0.32333	1.193000	0.43086	0.563000	0.77884	CTT	TAOK2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255152.2		+	ENST00000308893.4	Missense_Mutation	SNP	16 : 29996816 - 29996816 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	191	40
PRPSAP1	5635	broad.mit.edu	37	17	74308979	74308979	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74308979C>T	ENST00000446526.3	-	9	1416	c.971G>A	c.(970-972)cGc>cAc	p.R324H	PRPSAP1_ENST00000324684.4_Missense_Mutation_p.R221H|PRPSAP1_ENST00000588364.1_5'UTR	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	295					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						CTCAATCAGGCGAGGGGCCTC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	77	76			NA	NA	17		NA											NA				74308979		2203	4300	6503	SO:0001583	missense			D61391	CCDS11743.2	17q24-q25	2008-07-18			ENSG00000161542	ENSG00000161542	5635	5635			9466	protein-coding gene	gene with protein product		601249			NA	8660991	Standard	NM_002766	NM_002766	NA	Approved	PAP39	uc010wta.1	Q14558	OTTHUMG00000155969	ENST00000446526.3:c.971G>A	17.37:g.74308979C>T	ENSP00000414624:p.Arg324His	NA	B2R6M4|Q96H06	37	CCDS11743.2	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908919	0.92107	.	.	ENSG00000161542	ENST00000446526;ENST00000324684;ENST00000435555	T;T;T	0.73681	-0.77;-0.77;-0.77	5.83	3.8	0.43715	.	0.048040	0.85682	D	0.000000	D	0.82706	0.5095	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;0.989	D;P	0.63113	0.911;0.84	T	0.83303	-0.0027	10	0.87932	D	0	.	10.6537	0.45663	0.1332:0.7988:0.0:0.068	.	295;324	Q14558;Q14558-2	KPRA_HUMAN;.	H	324;221;221	ENSP00000414624:R324H;ENSP00000314973:R221H;ENSP00000392838:R221H	ENSP00000314973:R221H	R	-	2	0	PRPSAP1	71820574	1.000000	0.71417	0.977000	0.42913	0.878000	0.50629	4.819000	0.62664	0.771000	0.33359	0.655000	0.94253	CGC	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342480.2		-	ENST00000446526.3	Missense_Mutation	SNP	17 : 74308979 - 74308979 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	491	78
APAF1	317	broad.mit.edu	37	12	99074166	99074166	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:99074166G>A	ENST00000359972.2	+	14	2576	c.1999G>A	c.(1999-2001)Gat>Aat	p.D667N	APAF1_ENST00000549007.1_Missense_Mutation_p.D678N|APAF1_ENST00000551964.1_Missense_Mutation_p.D678N|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000339433.3_Missense_Mutation_p.D678N|APAF1_ENST00000550527.1_Missense_Mutation_p.D667N|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000547045.1_Missense_Mutation_p.D678N|APAF1_ENST00000357310.1_Missense_Mutation_p.D678N	NM_001160.2|NM_013229.2	NP_001151.1|NP_037361.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	678					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	CTGCTCAGTGGATAAAAAAGT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	81	81			NA	NA	12		NA											NA				99074166		2203	4300	6503	SO:0001583	missense			AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868	317	317		WD repeat domain containing	576	protein-coding gene	gene with protein product		602233	apoptotic protease activating factor, apoptotic peptidase activating factor		NA	9267021, 10702682	Standard	NM_181861.1	NM_181861	NA	Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000359972.2:c.1999G>A	12.37:g.99074166G>A	ENSP00000353059:p.Asp667Asn	NA	B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	37	CCDS55863.1	.	.	.	.	.	.	.	.	.	.	G	33	5.248336	0.95305	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	D;D;D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45	5.49	5.49	0.81192	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.045251	0.85682	D	0.000000	D	0.95433	0.8517	M	0.87180	2.865	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;0.996	D	0.95804	0.8835	10	0.87932	D	0	-8.12	19.3764	0.94512	0.0:0.0:1.0:0.0	.	678;678;667;678;667	C9JLV4;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	N	678;667;678;678;667;678;678	ENSP00000448165:D678N;ENSP00000353059:D667N;ENSP00000349862:D678N;ENSP00000341830:D678N;ENSP00000448449:D667N;ENSP00000449791:D678N;ENSP00000448161:D678N	ENSP00000341830:D678N	D	+	1	0	APAF1	97598297	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.410000	0.97335	2.582000	0.87167	0.591000	0.81541	GAT	APAF1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408007.1		+	ENST00000359972.2	Missense_Mutation	SNP	12 : 99074166 - 99074166 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	178	28
CYP4X1	260293	broad.mit.edu	37	1	47495763	47495763	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47495763C>T	ENST00000371901.3	+	2	529	c.279C>T	c.(277-279)atC>atT	p.I93I	CYP4X1_ENST00000538609.1_Silent_p.I92I	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	93						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TTTTCTGTATCTATGACCCAG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	120	118			NA	NA	1		NA											NA				47495763		2203	4300	6503	SO:0001819	synonymous_variant			AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377	260293	260293		Cytochrome P450s	20244	protein-coding gene	gene with protein product		614999			NA	12176035	Standard	NM_178033	NM_178033	NA	Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.279C>T	1.37:g.47495763C>T		NA		37	CCDS544.1																																																																																			CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022017.1		+	ENST00000371901.3	Silent	SNP	1 : 47495763 - 47495763 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	577	65
AFF1	4299	broad.mit.edu	37	4	88035561	88035561	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88035561C>A	ENST00000307808.6	+	11	1975	c.1555C>A	c.(1555-1557)Ctg>Atg	p.L519M	AFF1_ENST00000544085.1_Missense_Mutation_p.L157M|AFF1_ENST00000395146.4_Missense_Mutation_p.L526M	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	519						nucleus	sequence-specific DNA binding transcription factor activity	p.W525fs*19(2)		breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GGACAACTGGCTGACCAAAGT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Deletion - Frameshift(2)	liver(2)											9	15	13			NA	NA	4		NA											NA				88035561		2118	4194	6312	SO:0001583	missense			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493	4299	4299			7135	protein-coding gene	gene with protein product		159557	myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2, pre-B-cell monocytic leukemia partner 1	PBM1, MLLT2	NA	7689231, 1423625, 8353274	Standard	NM_005935	NM_005935	NA	Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.1555C>A	4.37:g.88035561C>A	ENSP00000305689:p.Leu519Met	NA		37	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568193	0.45798	.	.	ENSG00000172493	ENST00000395146;ENST00000541943;ENST00000307808;ENST00000544085	T;T;T	0.74632	-0.86;-0.86;-0.86	5.89	2.85	0.33270	.	0.304358	0.28011	N	0.016958	T	0.78886	0.4354	M	0.75777	2.31	0.37332	D	0.910021	D;D;D	0.63046	0.992;0.992;0.992	P;P;P	0.58077	0.832;0.832;0.832	T	0.76833	-0.2813	10	0.44086	T	0.13	-9.4591	5.0038	0.14277	0.1399:0.6017:0.0:0.2585	.	526;519;519	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	M	526;178;519;157	ENSP00000378578:L526M;ENSP00000305689:L519M;ENSP00000440843:L157M	ENSP00000305689:L519M	L	+	1	2	AFF1	88254585	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	0.673000	0.25203	0.233000	0.21120	0.561000	0.74099	CTG	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253053.3		+	ENST00000307808.6	Missense_Mutation	SNP	4 : 88035561 - 88035561 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	190	22
FAM163A	148753	broad.mit.edu	37	1	179782952	179782952	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179782952C>T	ENST00000341785.4	+	5	528	c.132C>T	c.(130-132)gaC>gaT	p.D44D		NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN	family with sequence similarity 163, member A	44						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						AGGTTGCAGACGAGGAGGAGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	46	47			NA	NA	1		NA											NA				179782952		2203	4300	6503	SO:0001819	synonymous_variant			BC009382	CCDS1333.1	1q25.2	2008-06-05	2008-06-05	2008-06-05	ENSG00000143340	ENSG00000143340	148753	148753			28274	protein-coding gene	gene with protein product		611727	chromosome 1 open reading frame 76	C1orf76	NA	12477932	Standard	NM_173509	NM_173509	NA	Approved	MGC16664	uc001gnj.3	Q96GL9	OTTHUMG00000035262	ENST00000341785.4:c.132C>T	1.37:g.179782952C>T		NA		37	CCDS1333.1																																																																																			FAM163A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085300.1		+	ENST00000341785.4	Silent	SNP	1 : 179782952 - 179782952 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	306	100
GRB10	2887	broad.mit.edu	37	7	50778592	50778592	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50778592C>T	ENST00000403097.1	-	3	793	c.13G>A	c.(13-15)Ggc>Agc	p.G5S	GRB10_ENST00000439599.1_Missense_Mutation_p.G5S|GRB10_ENST00000398812.2_Intron|GRB10_ENST00000406641.1_Intron|GRB10_ENST00000335866.3_Intron|GRB10_ENST00000401949.1_Intron|GRB10_ENST00000402578.1_Intron|GRB10_ENST00000407526.1_Intron|GRB10_ENST00000402497.1_Intron|GRB10_ENST00000357271.5_Intron			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	0					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					AACAGAGGGCCGGCAGCTTGC	0.498		NA							Russell-Silver syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													201	191	194			NA	NA	7		NA											NA				50778592		876	1991	2867	SO:0001583	missense	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070	2887	2887		Pleckstrin homology (PH) domain containing, SH2 domain containing	4564	protein-coding gene	gene with protein product		601523			NA		Standard		NM_005311	NA	Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000403097.1:c.13G>A	7.37:g.50778592C>T	ENSP00000385544:p.Gly5Ser	NA	A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	37		.	.	.	.	.	.	.	.	.	.	C	0.951	-0.706278	0.03255	.	.	ENSG00000106070	ENST00000439599;ENST00000403097;ENST00000439044	T;T;T	0.81078	-1.45;-1.45;-0.18	1.21	-2.43	0.06522	.	.	.	.	.	T	0.62270	0.2414	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31641	-0.9936	8	0.25106	T	0.35	.	3.4591	0.07526	0.2092:0.4526:0.0:0.3381	.	5	Q13322-4	.	S	5	ENSP00000406716:G5S;ENSP00000385544:G5S;ENSP00000413023:G5S	ENSP00000385544:G5S	G	-	1	0	GRB10	50746086	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.804000	0.01738	-2.095000	0.00853	-1.151000	0.01829	GGC	GRB10-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000319155.3		-	ENST00000403097.1	Missense_Mutation	SNP	7 : 50778592 - 50778592 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	772	105
DIDO1	11083	broad.mit.edu	37	20	61541345	61541345	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61541345T>A	ENST00000266070.4	-	4	1192	c.867A>T	c.(865-867)gaA>gaT	p.E289D	DIDO1_ENST00000395343.1_Missense_Mutation_p.E289D|DIDO1_ENST00000395335.2_Missense_Mutation_p.E289D|DIDO1_ENST00000370371.4_Missense_Mutation_p.E289D|DIDO1_ENST00000370366.1_Missense_Mutation_p.E289D|DIDO1_ENST00000266071.5_Missense_Mutation_p.E289D|DIDO1_ENST00000395340.1_Missense_Mutation_p.E289D|DIDO1_ENST00000354665.4_Missense_Mutation_p.E289D|DIDO1_ENST00000370368.1_Missense_Mutation_p.E289D	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	289					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GAAACCATTCTTCACAGCGGT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)							NA				0													68	68	68			NA	NA	20		NA											NA				61541345		2203	4300	6503	SO:0001583	missense			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191	11083	11083		Zinc fingers, PHD-type	2680	protein-coding gene	gene with protein product		604140	chromosome 20 open reading frame 158, death associated transcription factor 1	C20orf158, DATF1	NA	10393935	Standard	NM_080796	NM_033081	NA	Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.867A>T	20.37:g.61541345T>A	ENSP00000266070:p.Glu289Asp	NA	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	37	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	T	15.98	2.993549	0.54041	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02	5.54	0.131	0.14755	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.44097	D	0.000481	T	0.46541	0.1398	L	0.31207	0.915	0.49798	D	0.999824	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.982;0.982;0.975;0.994	T	0.19647	-1.0299	10	0.38643	T	0.18	-43.9968	11.2889	0.49239	0.0:0.4749:0.0:0.5251	.	289;289;289;289	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	D	289	ENSP00000266070:E289D;ENSP00000378752:E289D;ENSP00000378749:E289D;ENSP00000378744:E289D;ENSP00000359397:E289D;ENSP00000359394:E289D;ENSP00000346692:E289D;ENSP00000359391:E289D;ENSP00000266071:E289D	ENSP00000266070:E289D	E	-	3	2	DIDO1	61011790	0.845000	0.29573	0.996000	0.52242	0.145000	0.21501	-0.014000	0.12656	-0.161000	0.10983	-0.366000	0.07423	GAA	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080091.2		-	ENST00000266070.4	Missense_Mutation	SNP	20 : 61541345 - 61541345 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	451	97
OBSCN	84033	broad.mit.edu	37	1	228559432	228559432	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228559432C>T	ENST00000570156.2	+	105	23898	c.23824C>T	c.(23824-23826)Ctg>Ttg	p.L7942L	OBSCN_ENST00000366707.4_Silent_p.L4619L|OBSCN_ENST00000422127.1_Silent_p.L6985L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6985					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCACAGCGACTGCCTTCAGC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	19	18			NA	NA	1		NA											NA				228559432		1906	4066	5972	SO:0001819	synonymous_variant			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358	84033	84033		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	15719	protein-coding gene	gene with protein product		608616			NA	11448995, 11814696	Standard	NM_052843	NM_001098623	NA	Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000570156.2:c.23824C>T	1.37:g.228559432C>T		NA	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	37	CCDS59204.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.381544	0.24944	.	.	ENSG00000154358	ENST00000441106	.	.	.	4.69	-0.906	0.10524	.	.	.	.	.	T	0.19765	0.0475	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23440	-1.0188	4	.	.	.	.	1.1631	0.01810	0.2763:0.291:0.2699:0.1629	.	.	.	.	I	1601	.	.	T	+	2	0	OBSCN	226626055	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.188000	0.09642	-0.330000	0.08514	-0.320000	0.08662	ACT	OBSCN-011	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421354.3		+	ENST00000570156.2	Silent	SNP	1 : 228559432 - 228559432 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	264	46
C7orf10	0	broad.mit.edu	37	7	40498706	40498706	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:40498706G>T	ENST00000335693.4	+	11	939	c.916G>T	c.(916-918)Gat>Tat	p.D306Y	C7orf10_ENST00000401647.2_Missense_Mutation_p.D258Y|C7orf10_ENST00000309930.5_Missense_Mutation_p.D306Y	NM_001193313.1	NP_001180242.1	Q9HAC7	CG010_HUMAN		306							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						TTAGATCTTGGATTTGCCTGA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	44	44			NA	NA	7		NA											NA				40498706		1802	4066	5868	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000335693.4:c.916G>T	7.37:g.40498706G>T	ENSP00000338475:p.Asp306Tyr	NA	A4D1W5|B4DR73|Q4KMW4|Q4KMZ0|Q8TE00|Q8TEY1	37	CCDS55105.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.88|12.88	2.071975|2.071975	0.36566|0.36566	.|.	.|.	ENSG00000175600|ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693|ENST00000416370	D;T;T|.	0.86694|.	-2.16;0.57;0.57|.	5.27|5.27	4.05|4.05	0.47172|0.47172	CoA-transferase family III domain (2);|.	0.510359|.	0.22065|.	N|.	0.065115|.	T|T	0.56108|0.56108	0.1963|0.1963	L|L	0.52126|0.52126	1.63|1.63	0.80722|0.80722	D|D	1|1	B;B;B|.	0.33288|.	0.112;0.099;0.406|.	B;B;B|.	0.39738|.	0.106;0.106;0.308|.	T|T	0.51371|0.51371	-0.8714|-0.8714	10|5	0.87932|.	D|.	0|.	-7.2111|-7.2111	6.9227|6.9227	0.24397|0.24397	0.8767:0.0:0.1233:0.0|0.8767:0.0:0.1233:0.0	.|.	258;306;269|.	Q4KMW8;Q9HAC7;Q9HAC7-2|.	.;CG010_HUMAN;.|.	Y|C	306;258;306|300	ENSP00000312054:D306Y;ENSP00000385222:D258Y;ENSP00000338475:D306Y|.	ENSP00000312054:D306Y|.	D|W	+|+	1|3	0|0	C7orf10|C7orf10	40465231|40465231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.880000|0.880000	0.50808|0.50808	2.635000|2.635000	0.46537|0.46537	0.856000|0.856000	0.35383|0.35383	-0.345000|-0.345000	0.07892|0.07892	GAT|TGG	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000338388.1		+	ENST00000335693.4	Missense_Mutation	SNP	7 : 40498706 - 40498706 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	176	27
DNAAF1	123872	broad.mit.edu	37	16	84183927	84183927	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84183927C>T	ENST00000378553.5	+	3	456	c.332C>T	c.(331-333)aCg>aTg	p.T111M	DNAAF1_ENST00000334315.5_Missense_Mutation_p.T111M	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	111			Missing (in CILD13).		axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						TTGAATGATACGCTGTATTTA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	MET/THR	0,4400		0,0,2200	82	78	79		332	3	0	16		79	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAAF1	NM_178452.4	81	0,1,6499	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	111/726	84183927	1,12999	2200	4300	6500	SO:0001583	missense			BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099	123872	123872			30539	protein-coding gene	gene with protein product	outer row dynein assembly 7 homolog (Chlamydomonas)	613190	leucine rich repeat containing 50	LRRC50	NA	19944405	Standard	NM_178452	NM_178452	NA	Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.332C>T	16.37:g.84183927C>T	ENSP00000367815:p.Thr111Met	NA	B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	37	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066267	0.36470	0.0	1.16E-4	ENSG00000154099	ENST00000334315;ENST00000378553	T;T	0.37584	1.19;1.67	5.13	3.05	0.35203	.	0.124408	0.53938	D	0.000049	T	0.51126	0.1656	M	0.62154	1.92	0.25950	N	0.982762	D	0.76494	0.999	D	0.67103	0.949	T	0.37384	-0.9708	10	0.72032	D	0.01	-8.0059	9.2501	0.37549	0.1449:0.7794:0.0:0.0758	.	111	Q8NEP3	DAAF1_HUMAN	M	111	ENSP00000334593:T111M;ENSP00000367815:T111M	ENSP00000334593:T111M	T	+	2	0	DNAAF1	82741428	0.591000	0.26824	0.029000	0.17559	0.123000	0.20343	2.411000	0.44600	1.167000	0.42706	0.591000	0.81541	ACG	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250328.3		+	ENST00000378553.5	Missense_Mutation	SNP	16 : 84183927 - 84183927 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	19
NCAM2	4685	broad.mit.edu	37	21	22746295	22746295	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22746295T>G	ENST00000400546.1	+	9	1406	c.1157T>G	c.(1156-1158)aTt>aGt	p.I386S	NCAM2_ENST00000535285.1_Missense_Mutation_p.I411S|NCAM2_ENST00000284894.7_Missense_Mutation_p.I244S	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	386	Ig-like C2-type 4.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GCAAGCAGAATTGGAGGGCAT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	166	168			NA	NA	21		NA											NA				22746295		1907	4137	6044	SO:0001583	missense				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654	4685	4685		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	7657	protein-coding gene	gene with protein product		602040			NA	9226371	Standard	NM_004540	NM_004540	NA	Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1157T>G	21.37:g.22746295T>G	ENSP00000383392:p.Ile386Ser	NA	A8MQ06|Q7Z7F2	37	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.594621	0.86953	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	T;T;T	0.66638	-0.22;-0.22;-0.22	5.54	5.54	0.83059	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75228	0.3821	L	0.39898	1.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.998;0.984	T	0.76645	-0.2883	10	0.54805	T	0.06	-19.527	14.5628	0.68153	0.0:0.0:0.0:1.0	.	411;244;386	B7Z841;B7Z5K2;O15394	.;.;NCAM2_HUMAN	S	386;244;411	ENSP00000383392:I386S;ENSP00000284894:I244S;ENSP00000441887:I411S	ENSP00000284894:I244S	I	+	2	0	NCAM2	21668166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.496000	0.81526	2.116000	0.64780	0.524000	0.50904	ATT	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000170915.1		+	ENST00000400546.1	Missense_Mutation	SNP	21 : 22746295 - 22746295 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	505	65
PZP	5858	broad.mit.edu	37	12	9354925	9354925	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9354925C>T	ENST00000261336.2	-	4	498	c.470G>A	c.(469-471)cGa>cAa	p.R157Q	PZP_ENST00000381997.2_Missense_Mutation_p.R26Q	NM_002864.2	NP_002855.2			pregnancy-zone protein	NA										breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CAGTTCATTTCGAGGGCGAAA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(125;1402 1695 4685 34487 38571)							NA				0													89	77	81			NA	NA	12		NA											NA				9354925		2203	4300	6503	SO:0001583	missense			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838	5858	5858			9750	protein-coding gene	gene with protein product		176420			NA		Standard	NM_002864	NM_002864	NA	Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.470G>A	12.37:g.9354925C>T	ENSP00000261336:p.Arg157Gln	NA		37	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.562161	0.27915	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.73152	-0.72;-0.72	2.44	-2.9	0.05648	Alpha-2-macroglobulin, N-terminal (1);	0.621973	0.12652	U	0.450358	T	0.32971	0.0847	N	0.00926	-1.1	0.09310	N	1	B;B	0.13145	0.002;0.007	B;B	0.09377	0.0;0.004	T	0.19844	-1.0293	10	0.51188	T	0.08	.	3.776	0.08660	0.2532:0.449:0.0:0.2979	.	26;157	P20742-2;P20742	.;PZP_HUMAN	Q	157;26	ENSP00000261336:R157Q;ENSP00000371427:R26Q	ENSP00000261336:R157Q	R	-	2	0	PZP	9246192	0.000000	0.05858	0.022000	0.16811	0.468000	0.32798	0.425000	0.21346	-0.704000	0.05042	-0.691000	0.03719	CGA	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337624.1		-	ENST00000261336.2	Missense_Mutation	SNP	12 : 9354925 - 9354925 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	185	32
SYNDIG1	79953	broad.mit.edu	37	20	24523786	24523786	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:24523786A>G	ENST00000376862.3	+	2	686	c.53A>G	c.(52-54)gAt>gGt	p.D18G		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	18					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						AAAATCAGTGATGCTGGCAAG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	88	89			NA	NA	20		NA											NA				24523786		2203	4300	6503	SO:0001583	missense			AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463	79953	79953			15885	protein-coding gene	gene with protein product	interferon induced transmembrane protein domain containing 5, synapse differentiation induced gene 1	614311	chromosome 20 open reading frame 39, transmembrane protein 90B	C20orf39, TMEM90B	NA	20152115	Standard	NM_024893	NM_024893	NA	Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.53A>G	20.37:g.24523786A>G	ENSP00000366058:p.Asp18Gly	NA	Q6IA30|Q9H514	37	CCDS13164.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.047423	0.55110	.	.	ENSG00000101463	ENST00000376862	D	0.91740	-2.9	5.72	5.72	0.89469	.	0.204676	0.40728	N	0.001033	D	0.87099	0.6093	N	0.22421	0.69	0.58432	D	0.999995	B	0.29531	0.247	B	0.33392	0.163	D	0.86189	0.1611	10	0.87932	D	0	-22.5997	12.3979	0.55395	1.0:0.0:0.0:0.0	.	18	Q9H7V2	SYNG1_HUMAN	G	18	ENSP00000366058:D18G	ENSP00000366058:D18G	D	+	2	0	SYNDIG1	24471786	1.000000	0.71417	0.309000	0.25155	0.865000	0.49528	5.644000	0.67902	2.185000	0.69588	0.533000	0.62120	GAT	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078376.1		+	ENST00000376862.3	Missense_Mutation	SNP	20 : 24523786 - 24523786 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	545	98
UFM1	51569	broad.mit.edu	37	13	38924138	38924138	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38924138C>T	ENST00000239878.4	+	2	44	c.5C>T	c.(4-6)tCg>tTg	p.S2L	UFM1_ENST00000379649.1_5'UTR	NM_016617.2	NP_057701.1	P61960	UFM1_HUMAN	ubiquitin-fold modifier 1	2					protein ufmylation	cytoplasm|nucleus	protein binding			lung(2)|ovary(1)	3		Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132)		TTCCTCAGGTCGAAGGTTTCC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	136	140			NA	NA	13		NA											NA				38924138		2203	4300	6503	SO:0001583	missense			AF208844	CCDS9366.1, CCDS66533.1	13q13.3	2008-02-05	2005-05-27	2005-05-27	ENSG00000120686	ENSG00000120686	51569	51569			20597	protein-coding gene	gene with protein product		610553	chromosome 13 open reading frame 20	C13orf20	NA	15071506	Standard	NM_016617	NM_001286706	NA	Approved	bA131P10.1	uc001uwu.3	P61960	OTTHUMG00000017409	ENST00000239878.4:c.5C>T	13.37:g.38924138C>T	ENSP00000239878:p.Ser2Leu	NA	Q14346|Q5VXS0|Q6IAG6|Q9CPX2|Q9NZF2	37	CCDS9366.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224134	0.79576	.	.	ENSG00000120686	ENST00000239878	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	T	0.56396	0.1982	.	.	.	0.80722	D	1	D;P	0.55800	0.973;0.843	P;B	0.44561	0.453;0.254	T	0.63220	-0.6686	7	0.87932	D	0	.	13.9271	0.63968	0.0:1.0:0.0:0.0	.	2;2	Q5VXS2;P61960	.;UFM1_HUMAN	L	2	.	ENSP00000239878:S2L	S	+	2	0	UFM1	37822138	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	4.923000	0.63412	2.648000	0.89879	0.655000	0.94253	TCG	UFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045989.1		+	ENST00000239878.4	Missense_Mutation	SNP	13 : 38924138 - 38924138 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	754	155
WDR72	256764	broad.mit.edu	37	15	53889435	53889435	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:53889435C>T	ENST00000559418.1	-	17	3052	c.3019G>A	c.(3019-3021)Gtt>Att	p.V1007I	WDR72_ENST00000557913.1_Missense_Mutation_p.V994I|WDR72_ENST00000360509.5_Missense_Mutation_p.V997I|WDR72_ENST00000396328.1_Missense_Mutation_p.V997I			Q3MJ13	WDR72_HUMAN	WD repeat domain 72	997										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGTTGTTGAACTTCCGCCAAG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													219	202	208			NA	NA	15		NA											NA				53889435		2194	4293	6487	SO:0001583	missense			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415	256764	256764		WD repeat domain containing	26790	protein-coding gene	gene with protein product		613214			NA		Standard	NM_182758	NM_182758	NA	Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000559418.1:c.3019G>A	15.37:g.53889435C>T	ENSP00000452765:p.Val1007Ile	NA	Q7Z3I3|Q8N8X2	37		.	.	.	.	.	.	.	.	.	.	C	19.88	3.909339	0.72868	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.44881	0.91;0.91	6.04	5.13	0.70059	.	0.000000	0.64402	D	0.000013	T	0.47116	0.1428	M	0.61703	1.905	0.28436	N	0.917058	D	0.53312	0.959	P	0.47744	0.556	T	0.49303	-0.8954	10	0.42905	T	0.14	.	12.571	0.56337	0.0:0.9229:0.0:0.0771	.	997	Q3MJ13	WDR72_HUMAN	I	997	ENSP00000379619:V997I;ENSP00000353699:V997I	ENSP00000353699:V997I	V	-	1	0	WDR72	51676727	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	2.488000	0.45276	1.568000	0.49683	0.563000	0.77884	GTT	WDR72-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000418739.1		-	ENST00000559418.1	Missense_Mutation	SNP	15 : 53889435 - 53889435 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	920	36
LPAR1	1902	broad.mit.edu	37	9	113704334	113704334	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113704334C>A	ENST00000374431.3	-	4	543	c.160G>T	c.(160-162)Gga>Tga	p.G54*	LPAR1_ENST00000538760.1_Nonsense_Mutation_p.G55*|LPAR1_ENST00000541779.1_Nonsense_Mutation_p.G55*|LPAR1_ENST00000358883.4_Nonsense_Mutation_p.G54*|LPAR1_ENST00000374430.2_Nonsense_Mutation_p.G54*	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	54					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						ATTCCAAGTCCCATCACCAGC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(115;661 2323 9836 34256)							NA				0													119	105	110			NA	NA	9		NA											NA				113704334		2203	4300	6503	SO:0001587	stop_gained			U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121	1902	1902		GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid	3166	protein-coding gene	gene with protein product		602282	endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2	EDG2	NA	8922387, 9070858	Standard	NM_057159	NM_001401	NA	Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.160G>T	9.37:g.113704334C>A	ENSP00000363553:p.Gly54*	NA	O00656|O00722|P78351	37	CCDS6777.1	.	.	.	.	.	.	.	.	.	.	C	38	6.926339	0.97940	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760;ENST00000441240	.	.	.	5.36	5.36	0.76844	.	0.100782	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	18.0827	0.89445	0.0:1.0:0.0:0.0	.	.	.	.	X	54;55;54;54;36;55;54	.	ENSP00000351755:G54X	G	-	1	0	LPAR1	112744155	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.533000	0.85409	0.655000	0.94253	GGA	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053631.1		-	ENST00000374431.3	Nonsense_Mutation	SNP	9 : 113704334 - 113704334 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	473	76
ALDH3A2	224	broad.mit.edu	37	17	19578929	19578929	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19578929C>A	ENST00000571163.1	+	3	285	c.285C>A	c.(283-285)ttC>ttA	p.F95L	ALDH3A2_ENST00000579855.1_3'UTR|ALDH3A2_ENST00000339618.4_3'UTR|ALDH3A2_ENST00000395575.2_3'UTR|ALDH3A2_ENST00000176643.6_3'UTR|ALDH3A2_ENST00000581518.1_3'UTR|ALDH3A2_ENST00000574597.1_3'UTR			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	0					cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	CTGAATTATTCCTCTTTTAAA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	131	132			NA	NA	17		NA											NA				19578929		2203	4300	6503	SO:0001583	missense			L47162	CCDS11210.1, CCDS32589.1	17p11.2	2010-05-07			ENSG00000072210	ENSG00000072210	224	224	1.2.1.3	Aldehyde dehydrogenases	403	protein-coding gene	gene with protein product	fatty aldehyde dehydrogenase	609523		SLS, ALDH10	NA	7894487	Standard		NM_000382	NA	Approved	FALDH	uc002gwa.1	P51648	OTTHUMG00000059471	ENST00000571163.1:c.285C>A	17.37:g.19578929C>A	ENSP00000459977:p.Phe95Leu	NA	Q93011|Q96J37	37																																																																																				ALDH3A2-010	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000441026.2		+	ENST00000571163.1	Missense_Mutation	SNP	17 : 19578929 - 19578929 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	582	134
SYT4	6860	broad.mit.edu	37	18	40853651	40853651	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:40853651A>C	ENST00000255224.3	-	2	1111	c.743T>G	c.(742-744)tTt>tGt	p.F248C	SYT4_ENST00000590752.1_Missense_Mutation_p.F230C|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	248	C2 1.|Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						ATCTCTTGAAAACCTGTCAAA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(85;81 1419 2855 22820 35912)							NA				0													69	70	70			NA	NA	18		NA											NA				40853651		2202	4300	6502	SO:0001583	missense			BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872	6860	6860		Synaptotagmins	11512	protein-coding gene	gene with protein product		600103			NA	8058779	Standard	NM_020783	NM_020783	NA	Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.743T>G	18.37:g.40853651A>C	ENSP00000255224:p.Phe248Cys	NA	Q9P2K4	37	CCDS11922.1	.	.	.	.	.	.	.	.	.	.	A	19.74	3.884436	0.72410	.	.	ENSG00000132872	ENST00000255224;ENST00000442661	T	0.09817	2.94	5.72	5.72	0.89469	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.43188	0.1236	M	0.91818	3.245	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.999	T	0.54118	-0.8341	10	0.87932	D	0	.	16.2988	0.82793	1.0:0.0:0.0:0.0	.	230;248	B4DEU3;Q9H2B2	.;SYT4_HUMAN	C	248;53	ENSP00000255224:F248C	ENSP00000255224:F248C	F	-	2	0	SYT4	39107649	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.229000	0.95273	2.311000	0.77944	0.533000	0.62120	TTT	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255851.2		-	ENST00000255224.3	Missense_Mutation	SNP	18 : 40853651 - 40853651 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	384	79
ZYG11B	79699	broad.mit.edu	37	1	53237304	53237304	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53237304C>T	ENST00000294353.6	+	3	954	c.809C>T	c.(808-810)tCt>tTt	p.S270F	ZYG11B_ENST00000545132.1_Missense_Mutation_p.S270F|ZYG11B_ENST00000443756.2_Missense_Mutation_p.S270F	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	270							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						AACCTTGTTTCTCTGGATGTT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	80	82			NA	NA	1		NA											NA				53237304		2203	4300	6503	SO:0001583	missense			AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378	79699	79699		ZYG11 cell cycle regulator family	25820	protein-coding gene	gene with protein product			zyg-11 homolog (C. elegans), zyg-11 homolog B (C. elegans)	ZYG11	NA	11214970	Standard	NM_024646	NM_024646	NA	Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.809C>T	1.37:g.53237304C>T	ENSP00000294353:p.Ser270Phe	NA	Q8N2X3|Q9H8L8	37	CCDS30717.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431254	0.83776	.	.	ENSG00000162378	ENST00000443756;ENST00000545132;ENST00000294353	T;T;T	0.02197	4.4;4.4;4.4	5.26	5.26	0.73747	Armadillo-type fold (1);	0.099216	0.64402	D	0.000001	T	0.09686	0.0238	M	0.64170	1.965	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79108	0.98;0.992	T	0.44003	-0.9356	10	0.07813	T	0.8	.	19.1243	0.93376	0.0:1.0:0.0:0.0	.	270;270	B4DK95;Q9C0D3	.;ZY11B_HUMAN	F	270	ENSP00000400522:S270F;ENSP00000441315:S270F;ENSP00000294353:S270F	ENSP00000294353:S270F	S	+	2	0	ZYG11B	53009892	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.532000	0.81985	2.741000	0.93983	0.650000	0.86243	TCT	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000024749.1		+	ENST00000294353.6	Missense_Mutation	SNP	1 : 53237304 - 53237304 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	79
UBA7	7318	broad.mit.edu	37	3	49850508	49850508	+	Missense_Mutation	SNP	G	G	A	rs148849452	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49850508G>A	ENST00000333486.3	-	4	612	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	UBA7_ENST00000494212.1_5'UTR	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	152	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ACGAGGCCCCGGGTGTCAGCC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	56	53	54		454	2.1	1	3	dbSNP_134	54	0,8600		0,0,4300	yes	missense	UBA7	NM_003335.2	101	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	benign	152/1013	49850508	1,13005	2203	4300	6503	SO:0001583	missense			BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179	7318	7318		Ubiquitin-like modifier activating enzymes	12471	protein-coding gene	gene with protein product	UBA1, ubiquitin-activating enzyme E1 homolog B (yeast), UBA7, ubiquitin-activating enzyme E1	191325	ubiquitin-activating enzyme E1-like	UBE1L	NA	8327486	Standard	NM_003335	NM_003335	NA	Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.454C>T	3.37:g.49850508G>A	ENSP00000333266:p.Arg152Trp	NA	Q9BRB2	37	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	G	8.848	0.943843	0.18281	2.27E-4	0.0	ENSG00000182179	ENST00000333486	T	0.37058	1.22	5.04	2.09	0.27110	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.323101	0.31949	N	0.006812	T	0.25269	0.0614	L	0.50333	1.59	0.49798	D	0.999828	B	0.32507	0.373	B	0.25614	0.062	T	0.06499	-1.0823	10	0.51188	T	0.08	-17.4254	4.8768	0.13660	0.1784:0.0:0.5355:0.2861	.	152	P41226	UBA7_HUMAN	W	152	ENSP00000333266:R152W	ENSP00000333266:R152W	R	-	1	2	UBA7	49825512	0.003000	0.15002	0.964000	0.40570	0.036000	0.12997	0.691000	0.25467	0.648000	0.30732	-0.448000	0.05591	CGG	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350503.1		-	ENST00000333486.3	Missense_Mutation	SNP	3 : 49850508 - 49850508 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	238	38
SUSD4	55061	broad.mit.edu	37	1	223408411	223408411	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223408411A>C	ENST00000344029.6	-	6	901	c.756T>G	c.(754-756)ctT>ctG	p.L252L	SUSD4_ENST00000366878.4_Intron|SUSD4_ENST00000343846.3_Intron|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000494793.2_Intron|SUSD4_ENST00000454695.2_Intron|SUSD4_ENST00000484758.2_Intron	NM_001037175.2	NP_001032252.1	Q5VX71	SUSD4_HUMAN	sushi domain containing 4	0	Sushi 4.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GTGGGAAATAAAGGACAGGGA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	89	91			NA	NA	1		NA											NA				223408411		2203	4300	6503	SO:0001819	synonymous_variant			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502	55061	55061			25470	protein-coding gene	gene with protein product		615827			NA	12477932	Standard	NM_017982	NM_017982	NA	Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000344029.6:c.756T>G	1.37:g.223408411A>C		NA	D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	37	CCDS31034.1																																																																																			SUSD4-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092595.2		-	ENST00000344029.6	Silent	SNP	1 : 223408411 - 223408411 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	328	80
MGEA5	10724	broad.mit.edu	37	10	103559127	103559127	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103559127G>A	ENST00000361464.3	-	9	1676	c.1281C>T	c.(1279-1281)acC>acT	p.T427T	MGEA5_ENST00000439817.1_Silent_p.T374T|MGEA5_ENST00000370094.3_Silent_p.T427T|MGEA5_ENST00000357797.5_Silent_p.T374T	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	427					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TTGTTACTACGGTTGTGGCAT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	123	121			NA	NA	10		NA											NA				103559127		2203	4300	6503	SO:0001819	synonymous_variant			AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408	10724	10724			7056	protein-coding gene	gene with protein product	nuclear cytoplasmic O-GlcNAcase and acetyltransferase	604039			NA	9811929, 16356930	Standard	NM_012215	NM_012215	NA	Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.1281C>T	10.37:g.103559127G>A		NA	B7WPB9|D3DR79|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	37	CCDS7520.1																																																																																			MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049987.1		-	ENST00000361464.3	Silent	SNP	10 : 103559127 - 103559127 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	867	166
FST	10468	broad.mit.edu	37	5	52778894	52778894	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52778894C>T	ENST00000396947.3	+	2	436	c.270C>T	c.(268-270)ccC>ccT	p.P90P	FST_ENST00000256759.3_Silent_p.P90P	NM_006350.3	NP_006341.1	P19883	FST_HUMAN	follistatin	90	TB.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				ACTGCATCCCCTGTAAAGGTA	0.577		NA									OREG0016608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	61	60			NA	NA	5		NA											NA				52778894		2203	4300	6503	SO:0001819	synonymous_variant			M19481	CCDS3959.1, CCDS43315.1	5q11.2	2008-02-05			ENSG00000134363	ENSG00000134363	10468	10468			3971	protein-coding gene	gene with protein product		136470			NA	10411917, 3380788	Standard	NM_013409	NM_006350	NA	Approved	FS	uc003jpd.3	P19883	OTTHUMG00000131183	ENST00000396947.3:c.270C>T	5.37:g.52778894C>T		987	B5BU94|Q9BTH0	37	CCDS43315.1																																																																																			FST-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319781.3		+	ENST00000396947.3	Silent	SNP	5 : 52778894 - 52778894 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	73
SULT6B1	391365	broad.mit.edu	37	2	37410602	37410602	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37410602T>G	ENST00000407963.1	-	4	357	c.254A>C	c.(253-255)aAa>aCa	p.K85T	SULT6B1_ENST00000535679.1_Missense_Mutation_p.K123T|SULT6B1_ENST00000379149.2_Intron|SULT6B1_ENST00000260637.3_Missense_Mutation_p.K85T			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	123						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				CCCAGGTAATTTGTCATAGTG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	132	133			NA	NA	2		NA											NA				37410602		2203	4300	6503	SO:0001583	missense			AY289770, AY289774	CCDS33182.1	2p22.2	2007-07-26			ENSG00000138068	ENSG00000138068	391365	391365		Sulfotransferases, cytosolic	33433	protein-coding gene	gene with protein product					NA	14676822	Standard	NM_001032377	XM_005264307	NA	Approved		uc002rpu.3	Q6IMI4	OTTHUMG00000152160	ENST00000407963.1:c.254A>C	2.37:g.37410602T>G	ENSP00000384950:p.Lys85Thr	NA	B2RTS7	37	CCDS33182.1	.	.	.	.	.	.	.	.	.	.	T	11.41	1.630608	0.28978	.	.	ENSG00000138068	ENST00000535679;ENST00000260637;ENST00000407963	T;T;T	0.10960	2.82;2.82;2.82	4.73	3.59	0.41128	Sulfotransferase domain (1);	0.363897	0.29198	N	0.012846	T	0.11922	0.0290	L	0.39147	1.195	0.27889	N	0.939396	P	0.34615	0.459	B	0.42959	0.403	T	0.15292	-1.0442	10	0.22706	T	0.39	.	9.2246	0.37398	0.0:0.0873:0.0:0.9127	.	123	Q6IMI4	ST6B1_HUMAN	T	123;85;85	ENSP00000444081:K123T;ENSP00000260637:K85T;ENSP00000384950:K85T	ENSP00000260637:K85T	K	-	2	0	SULT6B1	37264106	0.768000	0.28519	0.991000	0.47740	0.980000	0.70556	0.641000	0.24720	0.843000	0.35070	0.477000	0.44152	AAA	SULT6B1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325505.1		-	ENST00000407963.1	Missense_Mutation	SNP	2 : 37410602 - 37410602 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	585	176
RPS28	6234	broad.mit.edu	37	19	8386871	8386871	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8386871C>A	ENST00000600659.2	+	3	153	c.122C>A	c.(121-123)tCc>tAc	p.S41Y		NM_001031.4	NP_001022.1	P62857	RS28_HUMAN	ribosomal protein S28	41					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome				NA						ACGAGCCGATCCATCATCCGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	17	17			NA	NA	19		NA											NA				8386871		1911	4118	6029	SO:0001583	missense			D14530	CCDS45953.1	19p13.2	2011-04-06				ENSG00000233927	6234	6234		S ribosomal proteins	10418	protein-coding gene	gene with protein product	40S ribosomal protein S28	603685			NA	8415000, 9582194	Standard	NM_001031	NM_001031	NA	Approved	S28	uc002mjn.3	P62857		ENST00000600659.2:c.122C>A	19.37:g.8386871C>A	ENSP00000472469:p.Ser41Tyr	NA	P25112	37	CCDS45953.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.794032	0.70452	.	.	ENSG00000233927	ENST00000417088	.	.	.	5.22	5.22	0.72569	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.56717	0.2004	.	.	.	0.80722	D	1	B	0.30686	0.29	B	0.36244	0.22	T	0.51260	-0.8728	7	0.23302	T	0.38	.	17.5181	0.87780	0.0:1.0:0.0:0.0	.	41	P62857	RS28_HUMAN	Y	41	.	ENSP00000397872:S41Y	S	+	2	0	RPS28	8292871	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.649000	0.74364	2.720000	0.93068	0.655000	0.94253	TCC	RPS28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461377.3		+	ENST00000600659.2	Missense_Mutation	SNP	19 : 8386871 - 8386871 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	90	13
GRM2	2912	broad.mit.edu	37	3	51743024	51743024	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51743024G>A	ENST00000395052.3	+	2	259	c.25G>A	c.(25-27)Gca>Aca	p.A9T	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.A9T	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	9					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	TGCGCTCCTGGCACTGCTGCT	0.632		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	3		NA											NA				51743024		2201	4300	6501	SO:0001583	missense			L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082	2912	2912		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4594	protein-coding gene	gene with protein product		604099			NA	7620613	Standard		NM_000839	NA	Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.25G>A	3.37:g.51743024G>A	ENSP00000378492:p.Ala9Thr	NA	B0M0K7|Q14CU5|Q52MC6|Q9H3N6	37	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	G	9.794	1.178770	0.21787	.	.	ENSG00000164082	ENST00000395052;ENST00000419928;ENST00000442933	D;D;D	0.94232	-2.44;-3.38;-2.54	4.98	1.85	0.25348	.	0.572387	0.10090	U	0.717260	D	0.84424	0.5469	N	0.19112	0.55	0.09310	N	0.999998	B	0.13594	0.008	B	0.14578	0.011	T	0.70428	-0.4874	10	0.22109	T	0.4	.	3.3242	0.07061	0.1657:0.2389:0.4812:0.1143	.	9	Q14416	GRM2_HUMAN	T	9	ENSP00000378492:A9T;ENSP00000404797:A9T;ENSP00000408906:A9T	ENSP00000296479:A9T	A	+	1	0	GRM2	51718064	0.168000	0.22989	0.928000	0.36995	0.922000	0.55478	0.356000	0.20181	0.622000	0.30249	-0.310000	0.09108	GCA	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346542.1		+	ENST00000395052.3	Missense_Mutation	SNP	3 : 51743024 - 51743024 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	190	40
WDR11	55717	broad.mit.edu	37	10	122650367	122650367	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:122650367C>T	ENST00000263461.6	+	19	2729	c.2483C>T	c.(2482-2484)gCg>gTg	p.A828V	WDR11_ENST00000604509.1_Intron	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	828						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						ATGAAGTCTGCGTGCTTTAGA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													214	198	204			NA	NA	10		NA											NA				122650367		2203	4300	6503	SO:0001583	missense			AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008	55717	55717		WD repeat domain containing	13831	protein-coding gene	gene with protein product		606417	bromodomain and WD repeat domain containing 2	BRWD2	NA	10718198, 11536051	Standard		NM_018117	NA	Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.2483C>T	10.37:g.122650367C>T	ENSP00000263461:p.Ala828Val	NA	Q5VWA1|Q9P2J6	37	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	C	32	5.188943	0.94923	.	.	ENSG00000120008	ENST00000263461	D	0.90444	-2.67	5.51	5.51	0.81932	WD40/YVTN repeat-like-containing domain (1);	0.297552	0.37669	N	0.001989	D	0.86426	0.5930	L	0.36672	1.1	0.30098	N	0.807698	B;B;B;B	0.26975	0.063;0.063;0.165;0.046	B;B;B;B	0.18871	0.016;0.016;0.023;0.006	T	0.79193	-0.1904	10	0.28530	T	0.3	-3.5114	19.4182	0.94710	0.0:1.0:0.0:0.0	.	828;828;119;357	Q9BZH6;B2RCJ6;Q9NWV7;Q659C9	WDR11_HUMAN;.;.;.	V	828	ENSP00000263461:A828V	ENSP00000263461:A828V	A	+	2	0	WDR11	122640357	0.949000	0.32298	0.010000	0.14722	0.888000	0.51559	7.348000	0.79366	2.575000	0.86900	0.655000	0.94253	GCG	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050707.2		+	ENST00000263461.6	Missense_Mutation	SNP	10 : 122650367 - 122650367 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	713	143
FOXC1	2296	broad.mit.edu	37	6	1610993	1610993	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:1610993T>C	ENST00000380874.2	+	1	313	c.313T>C	c.(313-315)Tac>Cac	p.Y105H		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	105					anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|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|transcription regulatory region DNA binding			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		GAACGGCATCTACCAGTTCAT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(133;719 1821 3197 26645 35015)							NA				0													120	129	126			NA	NA	6		NA											NA				1610993		2203	4300	6503	SO:0001583	missense			AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598	2296	2296		Forkhead boxes	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1	NA	7957066, 9620769	Standard		NM_001453	NA	Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.313T>C	6.37:g.1610993T>C	ENSP00000370256:p.Tyr105His	NA	Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	37	CCDS4473.1	.	.	.	.	.	.	.	.	.	.	t	20.6	4.022166	0.75275	.	.	ENSG00000054598	ENST00000541209;ENST00000380874	D	0.97279	-4.32	3.86	3.86	0.44501	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.64402	U	0.000005	D	0.99061	0.9678	H	0.99090	4.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98816	1.0745	10	0.87932	D	0	.	12.605	0.56519	0.0:0.0:0.0:1.0	.	105	Q12948	FOXC1_HUMAN	H	105	ENSP00000370256:Y105H	ENSP00000370256:Y105H	Y	+	1	0	FOXC1	1555992	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.138000	0.77305	1.501000	0.48654	0.375000	0.23000	TAC	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043450.1		+	ENST00000380874.2	Missense_Mutation	SNP	6 : 1610993 - 1610993 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	783	134
SPHKAP	80309	broad.mit.edu	37	2	228881439	228881439	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228881439G>A	ENST00000392056.3	-	7	4177	c.4131C>T	c.(4129-4131)acC>acT	p.T1377T	SPHKAP_ENST00000344657.5_Silent_p.T1377T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1377						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GTTTACATTCGGTAACAGAGT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	78	77			NA	NA	2		NA											NA				228881439		2203	4300	6503	SO:0001819	synonymous_variant				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820	80309	80309		A-kinase anchor proteins	30619	protein-coding gene	gene with protein product	sphingosine kinase type 1-interacting protein	611646			NA	12080051, 11214970	Standard	NM_030623	NM_030623	NA	Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4131C>T	2.37:g.228881439G>A		NA	Q68DA3|Q68DR8|Q9C0I5	37	CCDS46537.1																																																																																			SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331750.1		-	ENST00000392056.3	Silent	SNP	2 : 228881439 - 228881439 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	662	110
SND1	27044	broad.mit.edu	37	7	127727023	127727023	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127727023C>A	ENST00000354725.3	+	21	2532	c.2338C>A	c.(2338-2340)Cta>Ata	p.L780I		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	780	Tudor.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CCTGGGTACCCTATCACCTGC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	92	105			NA	NA	7		NA											NA				127727023		2203	4300	6503	SO:0001583	missense				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157	27044	27044		Tudor domain containing	30646	protein-coding gene	gene with protein product	p100 EBNA2 co-activator, Tudor-SN	602181			NA	7651391, 9003410, 12819296	Standard	NM_014390	NM_014390	NA	Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.2338C>A	7.37:g.127727023C>A	ENSP00000346762:p.Leu780Ile	NA	Q13122|Q96AG0	37	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378334	0.42207	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	T	0.10099	2.91	5.96	2.77	0.32553	Tudor subgroup (1);Staphylococcal nuclease (SNase-like) (1);Staphylococcal nuclease (SNase-like), OB-fold (1);Maternal tudor protein (1);Tudor domain (1);	0.194552	0.45126	D	0.000396	T	0.09468	0.0233	L	0.33189	0.99	0.45378	D	0.998361	B	0.21309	0.054	B	0.35727	0.209	T	0.20672	-1.0268	10	0.26408	T	0.33	-7.5627	5.9818	0.19411	0.1567:0.6661:0.0:0.1772	.	780	Q7KZF4	SND1_HUMAN	I	780;770	ENSP00000346762:L780I	ENSP00000346762:L780I	L	+	1	2	SND1	127514259	0.994000	0.37717	0.967000	0.41034	0.808000	0.45660	2.872000	0.48467	0.862000	0.35528	0.655000	0.94253	CTA	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349148.1		+	ENST00000354725.3	Missense_Mutation	SNP	7 : 127727023 - 127727023 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	434	59
SLIT1	6585	broad.mit.edu	37	10	98760969	98760969	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98760969C>T	ENST00000266058.4	-	37	4750	c.4505G>A	c.(4504-4506)cGg>cAg	p.R1502Q	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.G1461S	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1502	CTCK.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CCGCTTCAGCCGAAGGCCCTG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	GLN/ARG	0,4406		0,0,2203	71	77	75		4505	4.8	1	10		75	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLIT1	NM_003061.2	43	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	1502/1535	98760969	1,13005	2203	4300	6503	SO:0001583	missense			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122	6585	6585			11085	protein-coding gene	gene with protein product		603742	slit (Drosophila) homolog 1	SLIL1	NA	9693030, 9813312	Standard	NM_003061	NM_003061	NA	Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.4505G>A	10.37:g.98760969C>T	ENSP00000266058:p.Arg1502Gln	NA	Q8WWZ2|Q9UIL7	37	CCDS7453.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.9|25.9	4.689858|4.689858	0.88735|0.88735	0.0|0.0	1.16E-4|1.16E-4	ENSG00000187122|ENSG00000187122	ENST00000371070|ENST00000266058	T|D	0.80824|0.82081	-1.42|-1.57	4.82|4.82	4.82|4.82	0.62117|0.62117	.|Cystine knot, C-terminal (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90041|0.90041	0.6890|0.6890	M|M	0.69358|0.69358	2.11|2.11	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.79108	.|0.992	D|D	0.89950|0.89950	0.4079|0.4079	7|10	0.87932|0.48119	D|T	0|0.1	.|.	18.0843|18.0843	0.89453|0.89453	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1502	.|O75093	.|SLIT1_HUMAN	S|Q	1461|1502	ENSP00000360109:G1461S|ENSP00000266058:R1502Q	ENSP00000360109:G1461S|ENSP00000266058:R1502Q	G|R	-|-	1|2	0|0	SLIT1|SLIT1	98750959|98750959	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.809000|5.809000	0.69172|0.69172	2.498000|2.498000	0.84270|0.84270	0.561000|0.561000	0.74099|0.74099	GGC|CGG	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049636.1		-	ENST00000266058.4	Missense_Mutation	SNP	10 : 98760969 - 98760969 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	998	192
AKAP17A	8227	broad.mit.edu	37	X	1712941	1712941	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:1712941C>T	ENST00000313871.3	+	2	782	c.586C>T	c.(586-588)Cgg>Tgg	p.R196W	AKAP17A_ENST00000381261.3_Missense_Mutation_p.R196W	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	196	RRM.				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						GGACCCCTACCGGGAGGAGAT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0									TRP/ARG	0,4406		0,0,2203	133	123	127		586	0.9	0.1	X		127	1,8591		0,1,4295	no	missense	AKAP17A	NM_005088.2	101	0,1,6498	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	196/696	1712941	1,12997	2203	4296	6499	SO:0001583	missense			L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976	8227	8227		Pseudoautosomal regions / PAR1, A-kinase anchor proteins	18783	protein-coding gene	gene with protein product		312095, 465000	chromosome X and Y open reading frame 3, splicing factor, arginine/serine-rich 17A	CXYorf3, SFRS17A	NA	9736779, 1438229, 19840947	Standard	NM_005088	NR_027383	NA	Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.586C>T	X.37:g.1712941C>T	ENSP00000324827:p.Arg196Trp	NA	Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	37	CCDS14116.1	.	.	.	.	.	.	.	.	.	.	c	8.625	0.892372	0.17613	0.0	1.16E-4	ENSG00000197976	ENST00000313871;ENST00000381261	T;T	0.35973	1.28;1.28	2.04	0.936	0.19488	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.64402	U	0.000004	T	0.53465	0.1798	.	.	.	0.38765	D	0.954426	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.58476	-0.7630	9	0.87932	D	0	.	7.9728	0.30138	0.5008:0.4992:0.0:0.0	.	196;196	Q02040-3;Q02040	.;AK17A_HUMAN	W	196	ENSP00000324827:R196W;ENSP00000370660:R196W	ENSP00000324827:R196W	R	+	1	2	AKAP17A	1672941	1.000000	0.71417	0.090000	0.20809	0.233000	0.25261	0.916000	0.28651	0.822000	0.34565	0.100000	0.15512	CGG	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055609.2		+	ENST00000313871.3	Missense_Mutation	SNP	X : 1712941 - 1712941 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	552	117
MCOLN3	55283	broad.mit.edu	37	1	85487850	85487850	+	Missense_Mutation	SNP	G	G	A	rs141743037		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85487850G>A	ENST00000370589.2	-	11	1275	c.1223C>T	c.(1222-1224)gCg>gTg	p.A408V	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Missense_Mutation_p.A352V|MCOLN3_ENST00000474447.1_5'UTR	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	408						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		ATTGGGCAGCGCTGCCTGAAG	0.468		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	87	84	85		1223	5.5	0.9	1	dbSNP_134	85	2,8598	2.2+/-6.3	0,2,4298	yes	missense	MCOLN3	NM_018298.9	64	0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154	probably-damaging	408/554	85487850	2,13004	2203	4300	6503	SO:0001583	missense			AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732	55283	55283		Voltage-gated ion channels / Transient receptor potential cation channels	13358	protein-coding gene	gene with protein product		607400			NA	16382100	Standard	NM_018298	NM_018298	NA	Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.1223C>T	1.37:g.85487850G>A	ENSP00000359621:p.Ala408Val	NA	Q5T4H5|Q5T4H6|Q9NV09	37	CCDS701.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503460	0.85176	0.0	2.33E-4	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115	T;T	0.77098	-1.07;-1.07	5.52	5.52	0.82312	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	D	0.88511	0.6456	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.958;0.982	D	0.88817	0.3296	10	0.52906	T	0.07	-20.4113	19.4397	0.94813	0.0:0.0:1.0:0.0	.	352;408	Q8TDD5-2;Q8TDD5	.;MCLN3_HUMAN	V	408;408;352;352	ENSP00000359621:A408V;ENSP00000342698:A352V	ENSP00000304843:A408V	A	-	2	0	MCOLN3	85260438	1.000000	0.71417	0.933000	0.37362	0.497000	0.33675	9.415000	0.97375	2.578000	0.87016	0.563000	0.77884	GCG	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000027569.2		-	ENST00000370589.2	Missense_Mutation	SNP	1 : 85487850 - 85487850 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	40
PSME4	23198	broad.mit.edu	37	2	54159848	54159848	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54159848C>T	ENST00000404125.1	-	9	1062	c.1007G>A	c.(1006-1008)aGc>aAc	p.S336N	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	336					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGATGTGATGCTGTTAAACAA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	120	124			NA	NA	2		NA											NA				54159848		2203	4300	6503	SO:0001583	missense			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878	23198	23198		Proteasome (prosome, macropain) subunits	20635	protein-coding gene	gene with protein product		607705			NA	7584044, 12093752	Standard	XM_040158	NM_014614	NA	Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.1007G>A	2.37:g.54159848C>T	ENSP00000384211:p.Ser336Asn	NA	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	37	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113838	0.77210	.	.	ENSG00000068878	ENST00000404125	T	0.04809	3.55	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.08626	0.0214	M	0.66939	2.045	0.80722	D	1	P	0.35656	0.514	B	0.29176	0.099	T	0.16482	-1.0401	10	0.33141	T	0.24	.	20.2441	0.98394	0.0:1.0:0.0:0.0	.	336	Q14997	PSME4_HUMAN	N	336	ENSP00000384211:S336N	ENSP00000374643:S336N	S	-	2	0	PSME4	54013352	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.939000	0.70179	2.865000	0.98341	0.655000	0.94253	AGC	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324163.1		-	ENST00000404125.1	Missense_Mutation	SNP	2 : 54159848 - 54159848 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	528	120
TTN	7273	broad.mit.edu	37	2	179462481	179462481	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179462481T>A	ENST00000589042.1	-	294	57552	c.57328A>T	c.(57328-57330)Atc>Ttc	p.I19110F	TTN_ENST00000342992.6_Missense_Mutation_p.I16542F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I17469F|TTN_ENST00000342175.6_Missense_Mutation_p.I10237F|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I10170F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I10045F|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17469	Fibronectin type-III 38.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGATTCGGATCACCCCTCCA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	118	123			NA	NA	2		NA											NA				179462481		2009	4194	6203	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.57328A>T	2.37:g.179462481T>A	ENSP00000467141:p.Ile19110Phe	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	T	18.04	3.535285	0.64972	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	6.07	6.07	0.98685	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62672	0.2447	L	0.57130	1.785	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.64639	-0.6360	9	0.87932	D	0	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	10045;10170;10237;17469	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	16542;10045;10237;10170;10043	ENSP00000343764:I16542F;ENSP00000434586:I10045F;ENSP00000340554:I10237F;ENSP00000352154:I10170F	ENSP00000340554:I10237F	I	-	1	0	TTN	179170726	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.980000	0.88113	2.326000	0.78906	0.533000	0.62120	ATC	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179462481 - 179462481 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	333	55
FAT1	2195	broad.mit.edu	37	4	187538356	187538356	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187538356C>A	ENST00000441802.2	-	11	9088		c.e11-1			NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	NA					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGATCCCCTCCTATTAAATCA	0.313		NA								HNSCC(5;0.00058)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(197;1040 2055 4143 4984 49344)							NA				0													78	70	72			NA	NA	4		NA											NA				187538356		1792	4069	5861	SO:0001630	splice_region_variant			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857	2195	2195		Cadherins / Cadherin-related	3595	protein-coding gene	gene with protein product	cadherin-related family member 8	600976	FAT tumor suppressor (Drosophila) homolog, FAT tumor suppressor homolog 1 (Drosophila)	FAT	NA	8586420	Standard	NM_005245	XM_005262834	NA	Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.8879-1G>T	4.37:g.187538356C>A		NA		37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533090	0.64972	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	4.37	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4566	0.87609	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAT1	187775350	1.000000	0.71417	0.997000	0.53966	0.677000	0.39632	7.574000	0.82434	2.427000	0.82271	0.557000	0.71058	.	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360209.3	Intron	-	ENST00000441802.2	Splice_Site	SNP	4 : 187538356 - 187538356 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	153	20
KCNB1	3745	broad.mit.edu	37	20	47991499	47991499	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47991499C>T	ENST00000371741.4	-	2	764	c.598G>A	c.(598-600)Gtc>Atc	p.V200I		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	200					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GTGGAGAGGACGATGAACATG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	94	100			NA	NA	20		NA											NA				47991499		2203	4300	6503	SO:0001583	missense			AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445	3745	3745		Potassium channels, Voltage-gated ion channels / Potassium channels	6231	protein-coding gene	gene with protein product		600397			NA	7774931, 16382104	Standard	NM_004975	NM_004975	NA	Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.598G>A	20.37:g.47991499C>T	ENSP00000360806:p.Val200Ile	NA	Q14193	37	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125325	0.37533	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.97378	-4.36	5.87	5.87	0.94306	.	0.123534	0.53938	N	0.000050	D	0.93216	0.7839	N	0.26042	0.785	0.58432	D	0.999997	P	0.40266	0.71	B	0.32211	0.142	D	0.92691	0.6166	10	0.35671	T	0.21	.	18.7962	0.91995	0.0:1.0:0.0:0.0	.	200	Q14721	KCNB1_HUMAN	I	200;155	ENSP00000360806:V200I	ENSP00000360806:V200I	V	-	1	0	KCNB1	47424906	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.945000	0.63568	2.785000	0.95823	0.655000	0.94253	GTC	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080374.3		-	ENST00000371741.4	Missense_Mutation	SNP	20 : 47991499 - 47991499 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	232	46
MAP3K8	1326	broad.mit.edu	37	10	30747153	30747153	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30747153C>T	ENST00000263056.1	+	7	1710	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S	MAP3K8_ENST00000542547.1_Silent_p.S338S|MAP3K8_ENST00000375321.1_Silent_p.S338S	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	338	Protein kinase.				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				CCTATCCCTCCTACCTGTACA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	37	38			NA	NA	10		NA											NA				30747153		2203	4300	6503	SO:0001819	synonymous_variant			D14497	CCDS7166.1	10p11.2	2011-06-09			ENSG00000107968	ENSG00000107968	1326	1326		Mitogen-activated protein kinase cascade / Kinase kinase kinases	6860	protein-coding gene	gene with protein product		191195		COT, ESTF	NA	2072910, 8479752	Standard	NM_005204	NM_005204	NA	Approved	Tpl-2, EST, c-COT, MEKK8	uc009xlf.2	P41279	OTTHUMG00000017889	ENST00000263056.1:c.1014C>T	10.37:g.30747153C>T		NA	A8K2Q5|D3DRX1|Q14275|Q5T855|Q9HC81	37	CCDS7166.1																																																																																			MAP3K8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047416.2		+	ENST00000263056.1	Silent	SNP	10 : 30747153 - 30747153 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	252	21
VHLL	391104	broad.mit.edu	37	1	156268967	156268967	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156268967G>A	ENST00000339922.3	-	1	461	c.14C>T	c.(13-15)gCg>gTg	p.A5V		NM_001004319.2	NP_001004319.1	Q6RSH7	VHLL_HUMAN	von Hippel-Lindau tumor suppressor-like	5					protein ubiquitination	nucleus				endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					CCCGTTCCCCGCTCTCCAGGG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA	2,4400		0,2,2199	39	44	42		14	0.4	0	1		42	1,8595		0,1,4297	no	missense	VHLL	NM_001004319.2	64	0,3,6496	AA,AG,GG	NA	0.0116,0.0454,0.0231	possibly-damaging	5/140	156268967	3,12995	2201	4298	6499	SO:0001583	missense					1q22	2013-09-24			ENSG00000189030	ENSG00000189030	391104	391104			30666	protein-coding gene	gene with protein product			VHL pseudogene	VHLP	NA	14757845	Standard	NM_001004319	NM_001004319	NA	Approved	VLP	uc001fok.3	Q6RSH7	OTTHUMG00000024058	ENST00000339922.3:c.14C>T	1.37:g.156268967G>A	ENSP00000464258:p.Ala5Val	NA	A1L4M4	37																																																																																				VHLL-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000060590.3		-	ENST00000339922.3	Missense_Mutation	SNP	1 : 156268967 - 156268967 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	640	173
DGCR8	54487	broad.mit.edu	37	22	20074812	20074812	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20074812C>T	ENST00000351989.3	+	3	1277	c.848C>T	c.(847-849)cCg>cTg	p.P283L	DGCR8_ENST00000383024.2_Missense_Mutation_p.P283L|DGCR8_ENST00000407755.1_Missense_Mutation_p.P283L	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	283	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with NCL.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AGTGTGCAGCCGATGATGACC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	111	124			NA	NA	22		NA											NA				20074812		2203	4300	6503	SO:0001583	missense			AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191	54487	54487			2847	protein-coding gene	gene with protein product		609030	chromosome 22 open reading frame 12, DiGeorge syndrome critical region gene 8	C22orf12	NA	21454614	Standard		NM_001190326	NA	Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.848C>T	22.37:g.20074812C>T	ENSP00000263209:p.Pro283Leu	NA	B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	37	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	C	36	5.604141	0.96626	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.54071	0.73;0.59;0.59	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.69646	0.3134	M	0.72894	2.215	0.80722	D	1	D;D	0.67145	0.996;0.993	P;P	0.57009	0.811;0.652	T	0.71130	-0.4682	10	0.87932	D	0	-6.7014	20.1743	0.98175	0.0:1.0:0.0:0.0	.	283;283	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	L	283	ENSP00000263209:P283L;ENSP00000372488:P283L;ENSP00000384726:P283L	ENSP00000263209:P283L	P	+	2	0	DGCR8	18454812	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.463000	0.80869	2.873000	0.98535	0.561000	0.74099	CCG	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318654.1		+	ENST00000351989.3	Missense_Mutation	SNP	22 : 20074812 - 20074812 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	262	53
ZNF451	26036	broad.mit.edu	37	6	57012453	57012453	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:57012453G>T	ENST00000370706.4	+	10	1814	c.1570G>T	c.(1570-1572)Gca>Tca	p.A524S	RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.A524S|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.A524S|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000587815.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TCACGGAGGGGCACATTTAAA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													190	183	185			NA	NA	6		NA											NA				57012453		2203	4300	6503	SO:0001583	missense			AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200	26036	26036		Zinc fingers, C2H2-type	21091	protein-coding gene	gene with protein product		615708			NA	9628581	Standard	NM_015555	NM_001031623	NA	Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.1570G>T	6.37:g.57012453G>T	ENSP00000359740:p.Ala524Ser	NA	Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	37	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557298	0.86231	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.09255	3.0;3.0;3.0	5.41	5.41	0.78517	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.28067	0.0692	M	0.75777	2.31	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.99;0.996;0.999;0.996	T	0.01972	-1.1237	10	0.56958	D	0.05	-14.6963	19.216	0.93778	0.0:0.0:1.0:0.0	.	524;524;524;524	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	S	524	ENSP00000359740:A524S;ENSP00000350083:A524S;ENSP00000421645:A524S	ENSP00000350083:A524S	A	+	1	0	ZNF451	57120412	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	9.035000	0.93752	2.529000	0.85273	0.650000	0.86243	GCA	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041035.2		+	ENST00000370706.4	Missense_Mutation	SNP	6 : 57012453 - 57012453 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1040	212
ASGR2	433	broad.mit.edu	37	17	7017525	7017525	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7017525C>A	ENST00000380952.2	-	2	299	c.35G>T	c.(34-36)aGc>aTc	p.S12I	ASGR2_ENST00000254850.7_Missense_Mutation_p.S12I|ASGR2_ENST00000355035.5_Missense_Mutation_p.S12I|ASGR2_ENST00000446679.2_Missense_Mutation_p.S12I	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	12					cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	TTCCTCCGAGCTCAGCTGCTG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	118	126			NA	NA	17		NA											NA				7017525		2203	4300	6503	SO:0001583	missense			M11025	CCDS11088.1, CCDS32544.1, CCDS45598.1	17p	2011-08-30			ENSG00000161944	ENSG00000161944	433	433		C-type lectin domain containing	743	protein-coding gene	gene with protein product		108361			NA	3863106	Standard	NM_080914	NM_080912	NA	Approved	CLEC4H2	uc002ger.3	P07307	OTTHUMG00000102158	ENST00000380952.2:c.35G>T	17.37:g.7017525C>A	ENSP00000370339:p.Ser12Ile	NA	A6NLV8|A8MT12|D3DTM9|O00448|Q03969	37	CCDS32544.1	.	.	.	.	.	.	.	.	.	.	C	9.235	1.036924	0.19669	.	.	ENSG00000161944	ENST00000355035;ENST00000254850;ENST00000380952;ENST00000446679;ENST00000450034	T;T;T;T	0.17691	5.55;2.26;5.55;2.26	3.59	1.37	0.22104	.	0.553741	0.15021	N	0.284975	T	0.10809	0.0264	N	0.08118	0	0.23371	N	0.997814	P;D;P;P;P	0.53151	0.925;0.958;0.645;0.757;0.731	P;P;P;P;B	0.49451	0.611;0.563;0.46;0.544;0.395	T	0.13308	-1.0514	10	0.66056	D	0.02	.	5.1295	0.14903	0.0:0.2587:0.0:0.7413	.	12;12;12;12;12	B4E1D2;P07307-3;P07307;Q7Z4G9;P07307-2	.;.;ASGR2_HUMAN;.;.	I	12	ENSP00000347140:S12I;ENSP00000254850:S12I;ENSP00000370339:S12I;ENSP00000405844:S12I	ENSP00000254850:S12I	S	-	2	0	ASGR2	6958249	0.899000	0.30636	0.905000	0.35620	0.174000	0.22865	0.538000	0.23160	0.268000	0.21939	-0.312000	0.09012	AGC	ASGR2-201	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000220003.1		-	ENST00000380952.2	Missense_Mutation	SNP	17 : 7017525 - 7017525 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	504	40
MARK3	4140	broad.mit.edu	37	14	103958353	103958353	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103958353C>A	ENST00000429436.2	+	15	2336	c.1826C>A	c.(1825-1827)aCt>aAt	p.T609N	MARK3_ENST00000216288.7_Missense_Mutation_p.T593N|MARK3_ENST00000440884.3_Missense_Mutation_p.T530N|MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000335102.5_Missense_Mutation_p.T632N|MARK3_ENST00000553942.1_Missense_Mutation_p.T609N|MARK3_ENST00000416682.2_Missense_Mutation_p.T632N|MARK3_ENST00000303622.9_Missense_Mutation_p.T609N	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	609							ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			AGTAAATTAACTTCAAAACTC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	48	49			NA	NA	14		NA											NA				103958353		1893	4110	6003	SO:0001583	missense			M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413	4140	4140			6897	protein-coding gene	gene with protein product		602678			NA	9533022	Standard	NM_001128918	NM_002376	NA	Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.1826C>A	14.37:g.103958353C>A	ENSP00000411397:p.Thr609Asn	NA	O60219|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	37	CCDS45165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.6|27.6	4.849609|4.849609	0.91277|0.91277	.|.	.|.	ENSG00000075413|ENSG00000075413	ENST00000554627|ENST00000335102;ENST00000411530;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942;ENST00000556744	.|T;T;T;T;T;T;T;T	.|0.57107	.|0.42;0.42;0.95;0.42;0.95;0.95;0.42;0.42	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.042880	.|0.85682	.|D	.|0.000000	T|T	0.77391|0.77391	0.4123|0.4123	M|M	0.85197|0.85197	2.74|2.74	0.80722|0.80722	D|D	1|1	.|D;P;B;B;B;D;P;B	.|0.71674	.|0.961;0.63;0.105;0.015;0.273;0.998;0.861;0.039	.|P;B;B;B;B;D;P;B	.|0.78314	.|0.838;0.41;0.099;0.132;0.23;0.991;0.591;0.099	T|T	0.77638|0.77638	-0.2513|-0.2513	5|10	.|0.54805	.|T	.|0.06	.|.	20.5827|20.5827	0.99408|0.99408	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|616;196;632;593;609;530;609;609	.|P27448-7;A2SY06;P27448-2;P27448-6;P27448;Q86TT8;P27448-4;P27448-3	.|.;.;.;.;MARK3_HUMAN;.;.;.	I|N	361|632;310;530;632;609;609;593;609;196	.|ENSP00000335347:T632N;ENSP00000402104:T530N;ENSP00000408092:T632N;ENSP00000411397:T609N;ENSP00000303698:T609N;ENSP00000216288:T593N;ENSP00000450772:T609N;ENSP00000451623:T196N	.|ENSP00000216288:T609N	L|T	+|+	1|2	0|0	MARK3|MARK3	103028106|103028106	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.485000|7.485000	0.81204|0.81204	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CTT|ACT	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415144.1		+	ENST00000429436.2	Missense_Mutation	SNP	14 : 103958353 - 103958353 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	55
BAHD1	22893	broad.mit.edu	37	15	40751773	40751773	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40751773G>T	ENST00000561234.1	+	2	1369	c.1110G>T	c.(1108-1110)ggG>ggT	p.G370G	BAHD1_ENST00000416165.1_Silent_p.G370G|BAHD1_ENST00000560846.1_Silent_p.G370G			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	370					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		TGTGTGTTGGGCCTGAGCTCA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	75	77			NA	NA	15		NA											NA				40751773		2203	4300	6503	SO:0001819	synonymous_variant			AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320	22893	22893			29153	protein-coding gene	gene with protein product		613880			NA	10231032	Standard	NM_014952	XM_005254229	NA	Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000561234.1:c.1110G>T	15.37:g.40751773G>T		NA	Q8NDF7|Q9Y2F4	37																																																																																				BAHD1-002	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000418756.1		+	ENST00000561234.1	Silent	SNP	15 : 40751773 - 40751773 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	577	109
SERAC1	84947	broad.mit.edu	37	6	158549279	158549279	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158549279G>A	ENST00000367104.3	-	10	1007	c.876C>T	c.(874-876)atC>atT	p.I292I	SERAC1_ENST00000367102.2_Silent_p.I292I|SERAC1_ENST00000367101.1_Silent_p.I292I	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	292					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		CATTTGCTTCGATTTTATCAC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	134	135			NA	NA	6		NA											NA				158549279		2203	4300	6503	SO:0001819	synonymous_variant			BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335	84947	84947			21061	protein-coding gene	gene with protein product		614725			NA		Standard	NM_032861	NM_032861	NA	Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.876C>T	6.37:g.158549279G>A		NA	Q49AT1|Q5VTX3|Q6PKF3	37	CCDS5255.1																																																																																			SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042862.1		-	ENST00000367104.3	Silent	SNP	6 : 158549279 - 158549279 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	660	119
VWCE	220001	broad.mit.edu	37	11	61026582	61026582	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61026582C>A	ENST00000335613.5	-	20	2819	c.2433G>T	c.(2431-2433)caG>caT	p.Q811H	VWCE_ENST00000535710.1_Missense_Mutation_p.Q276H	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	811						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TAGGTAAAGTCTGTGTTTTCA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	57	56			NA	NA	11		NA											NA				61026582		2203	4299	6502	SO:0001583	missense			AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992	220001	220001			26487	protein-coding gene	gene with protein product		611115			NA	12869306	Standard	NM_152718	NM_152718	NA	Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.2433G>T	11.37:g.61026582C>A	ENSP00000334186:p.Gln811His	NA	A5PKV0|Q7Z7L6|Q86WK8	37	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.588329	0.46110	.	.	ENSG00000167992	ENST00000335613;ENST00000535710	T;T	0.70631	-0.5;3.36	4.73	1.69	0.24217	.	0.405020	0.18355	N	0.143759	T	0.61602	0.2360	L	0.54323	1.7	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.56147	-0.8027	10	0.87932	D	0	.	6.9739	0.24664	0.0:0.57:0.3356:0.0944	.	811	Q96DN2	VWCE_HUMAN	H	811;276	ENSP00000334186:Q811H;ENSP00000442570:Q276H	ENSP00000334186:Q811H	Q	-	3	2	VWCE	60783158	0.000000	0.05858	0.001000	0.08648	0.032000	0.12392	-0.696000	0.05104	0.132000	0.18615	-0.140000	0.14226	CAG	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398811.1		-	ENST00000335613.5	Missense_Mutation	SNP	11 : 61026582 - 61026582 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	221	21
KRT81	3887	broad.mit.edu	37	12	52685244	52685244	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52685244G>T	ENST00000327741.5	-	1	74	c.6C>A	c.(4-6)acC>acA	p.T2T	KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	2	Head.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGATCCGCAGGTCATGATCC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	31	30			NA	NA	12		NA											NA				52685244		2178	4236	6414	SO:0001819	synonymous_variant			X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426	3887	3887		-, Intermediate filaments type II, keratins (basic)	6458	protein-coding gene	gene with protein product	hard keratin type II 1	602153	keratin, hair, basic, 1	KRTHB1	NA	7556444, 16831889	Standard	NM_002281	NM_002281	NA	Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.6C>A	12.37:g.52685244G>T		NA	Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	37	CCDS31805.1																																																																																			KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395128.2		-	ENST00000327741.5	Silent	SNP	12 : 52685244 - 52685244 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	138	26
PCDH7	5099	broad.mit.edu	37	4	30723931	30723931	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:30723931T>C	ENST00000361762.2	+	1	1895	c.887T>C	c.(886-888)gTc>gCc	p.V296A	PCDH7_ENST00000543491.1_Missense_Mutation_p.V296A	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	296	Cadherin 2.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ATCCTACGGGTCCTCATCACC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													9	12	11			NA	NA	4		NA											NA				30723931		2184	4272	6456	SO:0001583	missense			AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851	5099	5099		Cadherins / Protocadherins : Non-clustered	8659	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 120	602988	BH-protocadherin (brain-heart)		NA	9615233	Standard	NM_032457, NM_002589	NM_002589	NA	Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.887T>C	4.37:g.30723931T>C	ENSP00000355243:p.Val296Ala	NA	O60246|O60247|Q4W5C4	37	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.329591	0.81690	.	.	ENSG00000169851	ENST00000361762;ENST00000543491	T;T	0.72505	-0.66;-0.66	5.08	5.08	0.68730	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.89033	0.6600	H	0.97023	3.925	0.58432	D	0.999992	D;D	0.76494	0.998;0.999	D;D	0.74348	0.971;0.983	D	0.92703	0.6176	9	0.87932	D	0	.	14.8453	0.70257	0.0:0.0:0.0:1.0	.	296;296	F5GWJ1;O60245	.;PCDH7_HUMAN	A	296	ENSP00000355243:V296A;ENSP00000441802:V296A	ENSP00000355243:V296A	V	+	2	0	PCDH7	30333029	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.245000	0.72398	1.897000	0.54924	0.454000	0.30748	GTC	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360366.1		+	ENST00000361762.2	Missense_Mutation	SNP	4 : 30723931 - 30723931 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	94	19
REPS1	85021	broad.mit.edu	37	6	139237004	139237004	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139237004C>A	ENST00000450536.2	-	14	2285	c.1711G>T	c.(1711-1713)Gtc>Ttc	p.V571F	REPS1_ENST00000367663.4_Missense_Mutation_p.V544F|REPS1_ENST00000409812.2_Intron|REPS1_ENST00000415951.2_Missense_Mutation_p.V544F|REPS1_ENST00000258062.5_Missense_Mutation_p.V570F			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	571	Pro-rich.					coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		CCTGTGGTGACTGTAAAGGTC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	106	109			NA	NA	6		NA											NA				139237004		2203	4300	6503	SO:0001583	missense				CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597	85021	85021		EF-hand domain containing	15578	protein-coding gene	gene with protein product		614825			NA		Standard		XM_005267177	NA	Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.1711G>T	6.37:g.139237004C>A	ENSP00000392065:p.Val571Phe	NA	B7ZBZ8|B7ZBZ9|B7ZC00|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	37		.	.	.	.	.	.	.	.	.	.	C	18.77	3.694080	0.68386	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T	0.31769	1.5;1.49;1.48;1.5;1.51	5.96	5.96	0.96718	.	0.055755	0.64402	D	0.000001	T	0.16471	0.0396	L	0.33485	1.01	0.51233	D	0.999911	P;P;P;P	0.43477	0.773;0.716;0.664;0.808	B;B;B;B	0.40534	0.332;0.232;0.178;0.312	T	0.01500	-1.1339	10	0.52906	T	0.07	-8.3031	14.5539	0.68086	0.0:0.9307:0.0:0.0693	.	570;519;571;544	Q96D71-3;B2R7D3;Q96D71;E9PMG1	.;.;REPS1_HUMAN;.	F	571;544;529;570;544;519	ENSP00000392065:V571F;ENSP00000356635:V544F;ENSP00000434251:V529F;ENSP00000258062:V570F;ENSP00000397941:V544F	ENSP00000258062:V570F	V	-	1	0	REPS1	139278697	1.000000	0.71417	0.975000	0.42487	0.991000	0.79684	5.398000	0.66308	2.832000	0.97577	0.655000	0.94253	GTC	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000042447.3		-	ENST00000450536.2	Missense_Mutation	SNP	6 : 139237004 - 139237004 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	357	83
KDM2A	22992	broad.mit.edu	37	11	66975059	66975059	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66975059A>G	ENST00000529006.2	+	6	832	c.386A>G	c.(385-387)tAc>tGc	p.Y129C	KDM2A_ENST00000398645.2_Missense_Mutation_p.Y129C	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						TGGACACGCTACTATGAGACC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	69	68			NA	NA	11		NA											NA				66975059		2034	4198	6232	SO:0001583	missense			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120	22992	22992		F-boxes / Leucine-rich repeats, Chromatin-modifying enzymes / K-demethylases	13606	protein-coding gene	gene with protein product	F-box protein FBL11, jumonji C domain-containing histone demethylase 1A	605657	F-box and leucine-rich repeat protein 11	FBXL11	NA	10231032, 10531037	Standard	NM_012308	NM_012308	NA	Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.386A>G	11.37:g.66975059A>G	ENSP00000432786:p.Tyr129Cys	NA	Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	37	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.511494	0.85389	.	.	ENSG00000173120	ENST00000398645;ENST00000529006	T;T	0.73681	-0.77;-0.77	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.88702	0.6508	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91219	0.5005	10	0.87932	D	0	-12.3265	14.5521	0.68073	1.0:0.0:0.0:0.0	.	129	Q9Y2K7	KDM2A_HUMAN	C	129	ENSP00000381640:Y129C;ENSP00000432786:Y129C	ENSP00000381640:Y129C	Y	+	2	0	KDM2A	66731635	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.026000	0.59711	0.482000	0.46254	TAC	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393140.2		+	ENST00000529006.2	Missense_Mutation	SNP	11 : 66975059 - 66975059 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	232	19
PTCHD4	442213	broad.mit.edu	37	6	47846053	47846053	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:47846053C>T	ENST00000339488.4	-	3	2560	c.2527G>A	c.(2527-2529)Gtc>Atc	p.V843I		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	843						integral to membrane	hedgehog receptor activity				NA						ACTGTGGTGACGTGATCCGGG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	156	155			NA	NA	6		NA											NA				47846053		2203	4300	6503	SO:0001583	missense				CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694	442213	442213			21345	protein-coding gene	gene with protein product			chromosome 6 open reading frame 138	C6orf138	NA		Standard	NM_001013732	NM_001013732	NA	Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.2527G>A	6.37:g.47846053C>T	ENSP00000341914:p.Val843Ile	NA	B4DRK3|Q5T884	37	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	C	10.39	1.336091	0.24253	.	.	ENSG00000244694	ENST00000339488	D	0.92495	-3.05	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.84719	0.5534	N	0.02916	-0.46	0.80722	D	1	D	0.69078	0.997	D	0.68621	0.959	T	0.81883	-0.0728	10	0.02654	T	1	.	20.547	0.99278	0.0:1.0:0.0:0.0	.	843	Q6ZW05	CF138_HUMAN	I	843	ENSP00000341914:V843I	ENSP00000341914:V843I	V	-	1	0	C6orf138	47954012	1.000000	0.71417	0.986000	0.45419	0.959000	0.62525	7.175000	0.77632	2.850000	0.98022	0.650000	0.86243	GTC	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317987.2		-	ENST00000339488.4	Missense_Mutation	SNP	6 : 47846053 - 47846053 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	862	151
RNF144B	255488	broad.mit.edu	37	6	18439941	18439941	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18439941G>A	ENST00000259939.3	+	4	614	c.297G>A	c.(295-297)caG>caA	p.Q99Q	RNF144B_ENST00000429054.2_Intron	NM_182757.3	NP_877434.2	Q7Z419	R144B_HUMAN	ring finger protein 144B	99					apoptosis|positive regulation of anti-apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)	11	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)			CTGTGGACCAGTTTCAACTTT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													173	157	162			NA	NA	6		NA											NA				18439941		2203	4300	6503	SO:0001819	synonymous_variant			AK096832	CCDS34345.1	6p22.3	2011-05-23	2009-01-05	2007-08-20	ENSG00000137393	ENSG00000137393	255488	255488		RING-type (C3HC4) zinc fingers	21578	protein-coding gene	gene with protein product			IBR domain containing 2	IBRDC2	NA		Standard	XM_172581	NM_182757	NA	Approved	bA528A10.3	uc003ncs.3	Q7Z419	OTTHUMG00000014322	ENST00000259939.3:c.297G>A	6.37:g.18439941G>A		NA	B3KUA8|Q5TB85|Q6P4Q0|Q8N3R7|Q9BX38	37	CCDS34345.1																																																																																			RNF144B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039965.2		+	ENST00000259939.3	Silent	SNP	6 : 18439941 - 18439941 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	50
GPR108	56927	broad.mit.edu	37	19	6732321	6732321	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6732321G>A	ENST00000264080.7	-	12	1104	c.1078C>T	c.(1078-1080)Ctg>Ttg	p.L360L	GPR108_ENST00000430424.4_Silent_p.L118L	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	360						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TTATCCGACAGGACGTACTTG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	64	62			NA	NA	19		NA											NA				6732321		2098	4212	6310	SO:0001819	synonymous_variant				CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734	56927	56927		GPCR / Unclassified : 7TM orphan receptors	17829	protein-coding gene	gene with protein product					NA		Standard		NM_001080452	NA	Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.1078C>T	19.37:g.6732321G>A		NA	B9EJD7	37	CCDS42479.1																																																																																			GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407508.2		-	ENST00000264080.7	Silent	SNP	19 : 6732321 - 6732321 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	523	100
RAE1	8480	broad.mit.edu	37	20	55949767	55949767	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:55949767T>C	ENST00000395841.2	+	11	1350	c.930T>C	c.(928-930)acT>acC	p.T310T	RAE1_ENST00000395840.2_Silent_p.T310T|RAE1_ENST00000371242.2_Silent_p.T310T|RAE1_ENST00000527947.1_Silent_p.T310T	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	310					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			AACTAAAAACTTCGGAACAGT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	136	140			NA	NA	20		NA											NA				55949767		2203	4300	6503	SO:0001819	synonymous_variant			U84720	CCDS13458.1	20q13.31	2013-08-28	2013-08-28		ENSG00000101146	ENSG00000101146	8480	8480		WD repeat domain containing	9828	protein-coding gene	gene with protein product		603343	RAE1 (RNA export 1, S.pombe) homolog, RAE1 RNA export 1 homolog (S. pombe)		NA	9370289, 9256445	Standard		XM_005260582	NA	Approved	Mnrp41	uc002xyi.3	P78406	OTTHUMG00000032819	ENST00000395841.2:c.930T>C	20.37:g.55949767T>C		NA	O15306|Q3SYL7|Q5TCH8|Q6V708|Q9H100|Q9NQM6	37	CCDS13458.1																																																																																			RAE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079842.2		+	ENST00000395841.2	Silent	SNP	20 : 55949767 - 55949767 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	614	15
ALDH5A1	7915	broad.mit.edu	37	6	24515440	24515440	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24515440C>T	ENST00000491546.1	+	4	818	c.688C>T	c.(688-690)Ccc>Tcc	p.P230S	ALDH5A1_ENST00000348925.2_Missense_Mutation_p.P271S|ALDH5A1_ENST00000357578.3_Missense_Mutation_p.P258S|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.P170S			P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	258					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	CAATGTTATTCCCTGTTCTCG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	130	134			NA	NA	6		NA											NA				24515440		2203	4300	6503	SO:0001583	missense			L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	7915	7915	1.2.1.24	Aldehyde dehydrogenases	408	protein-coding gene	gene with protein product	succinate-semialdehyde dehydrogenase	610045			NA	7814412, 9059628	Standard		NM_001080	NA	Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000491546.1:c.688C>T	6.37:g.24515440C>T	ENSP00000417687:p.Pro230Ser	NA	B2RD26	37		.	.	.	.	.	.	.	.	.	.	C	16.38	3.107257	0.56291	.	.	ENSG00000112294	ENST00000357578;ENST00000546278;ENST00000491546;ENST00000348925	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.33	5.33	0.75918	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.76097	0.3940	L	0.28054	0.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.969	T	0.79065	-0.1956	10	0.72032	D	0.01	-12.4064	19.2129	0.93765	0.0:1.0:0.0:0.0	.	258;271	P51649;G5E949	SSDH_HUMAN;.	S	258;170;230;271	ENSP00000350191:P258S;ENSP00000438193:P170S;ENSP00000417687:P230S;ENSP00000314649:P271S	ENSP00000314649:P271S	P	+	1	0	ALDH5A1	24623419	1.000000	0.71417	0.993000	0.49108	0.335000	0.28730	6.635000	0.74295	2.778000	0.95560	0.591000	0.81541	CCC	ALDH5A1-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000353914.1		+	ENST00000491546.1	Missense_Mutation	SNP	6 : 24515440 - 24515440 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	639	102
TNXB	7148	broad.mit.edu	37	6	32063627	32063627	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32063627A>G	ENST00000479795.1	-	3	2143	c.2003T>C	c.(2002-2004)cTg>cCg	p.L668P	TNXB_ENST00000375247.2_Missense_Mutation_p.L668P|TNXB_ENST00000375244.3_Missense_Mutation_p.L668P			P22105	TENX_HUMAN	tenascin XB	668	EGF-like 17.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CACGTGGCACAGGCACACTCC	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	17	17			NA	NA	6		NA											NA				32063627		2129	4234	6363	SO:0001583	missense			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477	7148	7148		Fibrinogen C domain containing, Fibronectin type III domain containing	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2	NA	8530023	Standard	NM_019105	NM_019105	NA	Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000479795.1:c.2003T>C	6.37:g.32063627A>G	ENSP00000418248:p.Leu668Pro	NA	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	37		.	.	.	.	.	.	.	.	.	.	A	10.66	1.413962	0.25465	.	.	ENSG00000168477	ENST00000375244;ENST00000375247;ENST00000479795	T;T;T	0.07688	3.88;3.88;3.17	4.25	1.74	0.24563	.	1.326850	0.05510	N	0.560107	T	0.09818	0.0241	M	0.72894	2.215	0.39173	D	0.962636	P	0.52692	0.955	P	0.54312	0.748	T	0.26815	-1.0092	10	0.72032	D	0.01	.	4.641	0.12548	0.6523:0.1657:0.182:0.0	.	668	P22105-3	.	P	668	ENSP00000364393:L668P;ENSP00000364396:L668P;ENSP00000418248:L668P	ENSP00000364393:L668P	L	-	2	0	TNXB	32171605	0.197000	0.23362	0.133000	0.22050	0.015000	0.08874	2.669000	0.46825	0.178000	0.19917	-0.460000	0.05396	CTG	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000357059.1		-	ENST00000479795.1	Missense_Mutation	SNP	6 : 32063627 - 32063627 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	130	19
TTN	7273	broad.mit.edu	37	2	179433938	179433938	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179433938G>A	ENST00000589042.1	-	326	77145	c.76921C>T	c.(76921-76923)Cgt>Tgt	p.R25641C	TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R23073C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R24000C|TTN_ENST00000342175.6_Missense_Mutation_p.R16768C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16701C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R16576C|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24000	Ig-like 125.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGGCTTCACGTTTCTCAACA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													207	209	209			NA	NA	2		NA											NA				179433938		1860	4086	5946	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.76921C>T	2.37:g.179433938G>A	ENSP00000467141:p.Arg25641Cys	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986746	0.35036	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	5.83	4.94	0.65067	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78097	0.4230	M	0.84082	2.675	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.73380	0.98;0.98;0.98;0.98	T	0.82444	-0.0454	9	0.87932	D	0	.	16.8246	0.85927	0.0:0.1288:0.8712:0.0	.	16576;16701;16768;24000	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	23073;16576;16768;16701;16574	ENSP00000343764:R23073C;ENSP00000434586:R16576C;ENSP00000340554:R16768C;ENSP00000352154:R16701C	ENSP00000340554:R16768C	R	-	1	0	TTN	179142184	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.720000	0.74723	1.415000	0.47037	0.650000	0.86243	CGT	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179433938 - 179433938 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1448	364
KIF19	124602	broad.mit.edu	37	17	72345379	72345379	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72345379C>T	ENST00000389916.4	+	10	1242	c.1104C>T	c.(1102-1104)atC>atT	p.I368I		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	368					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CCAGCATCATCGCTGACCTGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	75	64	68		1104	3.8	0.9	17		68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KIF19	NM_153209.3		0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077		368/999	72345379	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169	124602	124602		Kinesins	26735	protein-coding gene	gene with protein product					NA	11416179	Standard	NM_153209	NM_153209	NA	Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.1104C>T	17.37:g.72345379C>T		NA	A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	37	CCDS32718.2																																																																																			KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319644.2		+	ENST00000389916.4	Silent	SNP	17 : 72345379 - 72345379 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	240	41
ASCC1	51008	broad.mit.edu	37	10	73973061	73973061	+	Translation_Start_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73973061C>T	ENST00000342444.4	-	0	97				ASCC1_ENST00000492502.2_5'UTR|ASCC1_ENST00000317126.4_De_novo_Start_OutOfFrame|ASCC1_ENST00000545550.1_Missense_Mutation_p.S21N|ASCC1_ENST00000394915.3_De_novo_Start_OutOfFrame|ASCC1_ENST00000394919.1_De_novo_Start_OutOfFrame|ASCC1_ENST00000317168.6_De_novo_Start_OutOfFrame	NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN	activating signal cointegrator 1 complex subunit 1	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	RNA binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						TTCCATGACACTTTCTCCAAA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	107	110			NA	NA	10		NA											NA				73973061		2203	4300	6503					AY013290	CCDS31219.1, CCDS55713.1	10q22.1	2012-09-20			ENSG00000138303	ENSG00000138303	51008	51008			24268	protein-coding gene	gene with protein product		614215			NA	10810093, 12077347	Standard	NM_015947	NM_001198799	NA	Approved	CGI-18, ASC1p50, Em:AC022392.3	uc001jst.2	Q8N9N2	OTTHUMG00000018434	ENST00000342444.4:c.-5G>A	10.37:g.73973061C>T		NA	Q5SW06|Q5SW07|Q96EI8|Q9Y307	37	CCDS55713.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228190	0.58777	.	.	ENSG00000138303	ENST00000545550	T	0.32988	1.43	4.86	0.583	0.17417	.	.	.	.	.	T	0.17450	0.0419	.	.	.	0.09310	N	0.999994	B	0.02656	0.0	B	0.04013	0.001	T	0.22765	-1.0207	8	0.42905	T	0.14	.	2.74	0.05251	0.1488:0.5432:0.1443:0.1637	.	21	F5H874	.	N	21	ENSP00000442121:S21N	ENSP00000442121:S21N	S	-	2	0	ASCC1	73643067	0.000000	0.05858	0.010000	0.14722	0.854000	0.48673	-0.140000	0.10342	0.136000	0.18733	0.563000	0.77884	AGT	ASCC1-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048573.2		-	ENST00000342444.4	De_novo_Start_OutOfFrame	SNP	10 : 73973061 - 73973061 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	271	63
NDUFA8	4702	broad.mit.edu	37	9	124914656	124914656	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124914656G>A	ENST00000373768.3	-	2	224	c.83C>T	c.(82-84)gCg>gTg	p.A28V	NDUFA8_ENST00000537618.1_Missense_Mutation_p.A28V	NM_014222.2	NP_055037.1	P51970	NDUA8_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa	28					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					NADH(DB00157)	GTGATGGGCCGCAGCTTTAAG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	52	55			NA	NA	9		NA											NA				124914656		2203	4300	6503	SO:0001583	missense			AF044953	CCDS6835.1	9q33.2	2011-07-04	2002-08-29		ENSG00000119421	ENSG00000119421	4702	4702		Mitochondrial respiratory chain complex / Complex I	7692	protein-coding gene	gene with protein product	complex I PGIV subunit	603359	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8 (19kD, PGIV)		NA	9763677	Standard	NM_014222	NM_014222	NA	Approved	PGIV, MGC793	uc004blv.3	P51970	OTTHUMG00000020598	ENST00000373768.3:c.83C>T	9.37:g.124914656G>A	ENSP00000362873:p.Ala28Val	NA	Q9Y6N0	37	CCDS6835.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428595	0.83667	.	.	ENSG00000119421	ENST00000537618;ENST00000373768	T;D	0.84730	-1.19;-1.89	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.91030	0.7178	M	0.79614	2.46	0.80722	D	1	D	0.76494	0.999	P	0.61722	0.893	D	0.91538	0.5247	10	0.51188	T	0.08	-19.6724	15.7391	0.77870	0.0:0.0:1.0:0.0	.	28	P51970	NDUA8_HUMAN	V	28	ENSP00000442247:A28V;ENSP00000362873:A28V	ENSP00000362873:A28V	A	-	2	0	NDUFA8	123954477	1.000000	0.71417	0.926000	0.36857	0.953000	0.61014	8.846000	0.92159	2.310000	0.77875	0.643000	0.83706	GCG	NDUFA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053909.1		-	ENST00000373768.3	Missense_Mutation	SNP	9 : 124914656 - 124914656 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	231	45
AFMID	125061	broad.mit.edu	37	17	76200768	76200768	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76200768C>T	ENST00000409257.5	+	5	394	c.340C>T	c.(340-342)Ctg>Ttg	p.L114L	AFMID_ENST00000591952.1_Intron|AFMID_ENST00000327898.5_Silent_p.L114L|AFMID_ENST00000588800.1_Intron|AFMID_ENST00000589664.1_Intron	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	arylformamidase	114						cytosol|nucleus	arylformamidase activity			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			GGTCCACCCGCTGACGGCACA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	69	78			NA	NA	17		NA											NA				76200768		2203	4300	6503	SO:0001819	synonymous_variant			BX648442	CCDS32750.2, CCDS45801.1	17q25.3	2005-11-09			ENSG00000183077	ENSG00000183077	125061	125061	3.5.1.9		20910	protein-coding gene	gene with protein product					NA		Standard	XM_058889	NR_027083	NA	Approved	DKFZp686F03259, KF	uc002juz.3	Q63HM1	OTTHUMG00000153957	ENST00000409257.5:c.340C>T	17.37:g.76200768C>T		NA	A2RUB3	37	CCDS32750.2																																																																																			AFMID-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333207.1		+	ENST00000409257.5	Silent	SNP	17 : 76200768 - 76200768 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	30
COPS2	9318	broad.mit.edu	37	15	49431799	49431799	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49431799G>A	ENST00000388901.5	-	4	371	c.298C>T	c.(298-300)Cgg>Tgg	p.R100W	COPS2_ENST00000542928.1_Missense_Mutation_p.R36W|COPS2_ENST00000299259.6_Missense_Mutation_p.R100W	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	100					cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		ACTGCACTCCGAATATAGGTC	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(36;322 1063 10349 30082 48062)|Esophageal Squamous(122;685 1633 15569 21293 52803)							NA				0													74	79	77			NA	NA	15		NA											NA				49431799		2196	4288	6484	SO:0001583	missense			AF212227	CCDS32235.1, CCDS45257.1	15q21.2	2013-03-14	2013-03-14				9318	9318			30747	protein-coding gene	gene with protein product		604508	COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis)		NA	7776974, 9535219	Standard	NM_004236	NM_004236	NA	Approved	TRIP15, ALIEN, CSN2	uc001zxh.3	P61201		ENST00000388901.5:c.298C>T	15.37:g.49431799G>A	ENSP00000373553:p.Arg100Trp	NA	O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	37	CCDS32235.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372939	0.82573	.	.	ENSG00000166200	ENST00000299259;ENST00000388901;ENST00000542928	.	.	.	5.48	3.59	0.41128	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.62563	0.2438	L	0.50333	1.59	0.58432	D	0.999998	D;D;D	0.69078	0.995;0.997;0.997	P;P;P	0.54629	0.757;0.757;0.757	T	0.66995	-0.5782	9	0.87932	D	0	-25.2134	12.3137	0.54944	0.139:0.0:0.861:0.0	.	36;101;100	B4DIH5;Q59EL2;P61201	.;.;CSN2_HUMAN	W	100;100;36	.	ENSP00000299259:R100W	R	-	1	2	COPS2	47219091	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.230000	0.58632	1.317000	0.45149	0.655000	0.94253	CGG	COPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417840.1		-	ENST00000388901.5	Missense_Mutation	SNP	15 : 49431799 - 49431799 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	440	32
ZNF233	353355	broad.mit.edu	37	19	44778193	44778193	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44778193C>T	ENST00000592581.1	+	0	1669				ZNF233_ENST00000334152.1_Silent_p.G442G|ZNF233_ENST00000391958.2_Silent_p.G460G|ZNF235_ENST00000589799.1_Intron	NM_001207005.1	NP_001193934.1	A6NK53	ZN233_HUMAN	zinc finger protein 233	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GTGATAAGGGCTTCAGTAAGG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	72	69			NA	NA	19		NA											NA				44778193		2190	4300	6490	SO:0001624	3_prime_UTR_variant			AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915	353355	353355		Zinc fingers, C2H2-type, -	30946	protein-coding gene	gene with protein product					NA	12743021	Standard	NM_181756	NM_001207005	NA	Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000592581.1:c.*1140C>T	19.37:g.44778193C>T		NA	B2RN78|B2RN79|Q86WL8	37																																																																																				ZNF233-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000460734.1		+	ENST00000592581.1	3'UTR	SNP	19 : 44778193 - 44778193 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	82
ARHGAP5	394	broad.mit.edu	37	14	32560429	32560429	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:32560429T>C	ENST00000345122.3	+	2	869	c.554T>C	c.(553-555)gTc>gCc	p.V185A	ARHGAP5_ENST00000556611.1_Missense_Mutation_p.V185A|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.V185A|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.V185A|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	185					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AACCTTTTTGTCCAGTTATCA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(9;77 350 3443 29227 41353)							NA				0													65	66	66			NA	NA	14		NA											NA				32560429		2202	4296	6498	SO:0001583	missense			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05					394	394		Rho GTPase activating proteins	675	protein-coding gene	gene with protein product		602680	growth factor independent 2	GFI2	NA	8537347	Standard	NM_001030055	XM_005267635	NA	Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.554T>C	14.37:g.32560429T>C	ENSP00000371897:p.Val185Ala	NA	A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	37	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	T	3.162	-0.171826	0.06421	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.78	5.78	0.91487	.	0.179418	0.47852	D	0.000212	T	0.43277	0.1240	N	0.01668	-0.77	0.30798	N	0.740217	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41324	-0.9515	10	0.07325	T	0.83	.	10.4499	0.44516	0.0:0.0724:0.0:0.9276	.	185;185	Q13017-2;Q13017	.;RHG05_HUMAN	A	185	ENSP00000452222:V185A;ENSP00000441692:V185A;ENSP00000371897:V185A;ENSP00000393307:V185A	ENSP00000371897:V185A	V	+	2	0	ARHGAP5	31630180	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.662000	0.61525	2.194000	0.70268	0.533000	0.62120	GTC	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409735.1		+	ENST00000345122.3	Missense_Mutation	SNP	14 : 32560429 - 32560429 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	381	106
SOGA3	387104	broad.mit.edu	37	6	127796902	127796902	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127796902C>T	ENST00000481848.2	-	6	2779	c.2269G>A	c.(2269-2271)Gcg>Acg	p.A757T	SOGA3_ENST00000556132.1_Missense_Mutation_p.A757T|SOGA3_ENST00000525778.1_Missense_Mutation_p.A757T|SOGA3_ENST00000465909.2_Missense_Mutation_p.A757T|SOGA3_ENST00000368268.2_Missense_Mutation_p.A757T			Q5TF21	CF174_HUMAN	SOGA family member 3	757						integral to membrane					NA						TTCTTGCCCGCGTCGCTCTCG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	46	44			NA	NA	6		NA											NA				127796902		2129	4230	6359	SO:0001583	missense			AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338	387104	387104			21494	protein-coding gene	gene with protein product			chromosome 6 open reading frame 174	C6orf174	NA		Standard	NM_001012279	NM_001012279	NA	Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000481848.2:c.2269G>A	6.37:g.127796902C>T	ENSP00000455908:p.Ala757Thr	NA		37	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066637	0.55539	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.27	4.41	0.53225	.	0.285709	0.38005	N	0.001858	T	0.12390	0.0301	L	0.33245	0.995	0.48762	D	0.999704	B	0.30236	0.274	B	0.28232	0.087	T	0.03795	-1.1003	10	0.41790	T	0.15	-8.9632	13.665	0.62389	0.0:0.9257:0.0:0.0743	.	757	Q5TF21	CF174_HUMAN	T	757	ENSP00000451768:A757T;ENSP00000357251:A757T;ENSP00000434570:A757T;ENSP00000435559:A757T	ENSP00000435559:A757T	A	-	1	0	C6orf174	127838595	1.000000	0.71417	0.999000	0.59377	0.868000	0.49771	3.092000	0.50207	1.234000	0.43709	0.462000	0.41574	GCG	SOGA3-001	KNOWN	basic|appris_candidate_longest|readthrough_transcript|CCDS	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000042149.3		-	ENST00000481848.2	Missense_Mutation	SNP	6 : 127796902 - 127796902 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	694	138
MAN2A1	4124	broad.mit.edu	37	5	109156033	109156033	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:109156033G>T	ENST00000261483.4	+	15	3493	c.2441G>T	c.(2440-2442)gGt>gTt	p.G814V		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	814					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TTACCTGATGGTAATGCCAAG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	89	90			NA	NA	5		NA											NA				109156033		2202	4300	6502	SO:0001583	missense				CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	4124	4124	3.2.1.114		6824	protein-coding gene	gene with protein product	golgi integral membrane protein 7	154582		MANA2	NA	1757461, 15004235	Standard		NM_002372	NA	Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.2441G>T	5.37:g.109156033G>T	ENSP00000261483:p.Gly814Val	NA	Q16767	37	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677093	0.68042	.	.	ENSG00000112893	ENST00000261483	D	0.82081	-1.57	5.97	5.97	0.96955	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.356317	0.33272	N	0.005098	D	0.93406	0.7897	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.93821	0.7119	10	0.72032	D	0.01	-12.4663	20.0338	0.97549	0.0:0.0:1.0:0.0	.	814	Q16706	MA2A1_HUMAN	V	814	ENSP00000261483:G814V	ENSP00000261483:G814V	G	+	2	0	MAN2A1	109183932	1.000000	0.71417	0.960000	0.40013	0.574000	0.36063	5.563000	0.67352	2.836000	0.97738	0.655000	0.94253	GGT	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370680.1		+	ENST00000261483.4	Missense_Mutation	SNP	5 : 109156033 - 109156033 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	268	54
IL1RAP	3556	broad.mit.edu	37	3	190347219	190347219	+	Missense_Mutation	SNP	G	G	A	rs142111398		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:190347219G>A	ENST00000412504.2	+	8	1235	c.983G>A	c.(982-984)cGc>cAc	p.R328H	IL1RAP_ENST00000422485.1_Missense_Mutation_p.R328H|IL1RAP_ENST00000439062.1_Missense_Mutation_p.R328H|IL1RAP_ENST00000072516.3_Missense_Mutation_p.R328H|IL1RAP_ENST00000434491.1_Missense_Mutation_p.R187H|IL1RAP_ENST00000422940.1_Missense_Mutation_p.R328H|IL1RAP_ENST00000443369.2_Missense_Mutation_p.R328H|IL1RAP_ENST00000317757.3_Missense_Mutation_p.R328H|IL1RAP_ENST00000447382.1_Missense_Mutation_p.R328H			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	328	Ig-like C2-type 3.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		GATCTCAAGCGCAGCTATGTC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	80	74	76		983,983,983,983,983,983	4.8	1	3	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	IL1RAP	NM_001167928.1,NM_001167929.1,NM_001167930.1,NM_001167931.1,NM_002182.3,NM_134470.3	29,29,29,29,29,29	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	328/571,328/571,328/357,328/688,328/571,328/357	190347219	1,13005	2203	4300	6503	SO:0001583	missense			AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083	NA	3556		Interleukins and interleukin receptors, Immunoglobulin superfamily / Immunoglobulin-like domain containing	5995	protein-coding gene	gene with protein product		602626			NA	9479509, 9065432	Standard		NM_002182	NA	Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.983G>A	3.37:g.190347219G>A	ENSP00000412053:p.Arg328His	NA	B1NLD0|D3DNW0|O14915|Q86WJ7	37	CCDS3298.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.15|18.15	3.560049|3.560049	0.65538|0.65538	0.0|0.0	1.16E-4|1.16E-4	ENSG00000196083|ENSG00000196083	ENST00000412080|ENST00000072516;ENST00000443369;ENST00000412504;ENST00000439062;ENST00000447382;ENST00000422485;ENST00000434491;ENST00000422940;ENST00000317757	.|T;T;T;T;T;T;T;T;T	.|0.14022	.|2.54;2.54;2.54;2.54;2.54;2.54;2.54;2.54;2.54	5.7|5.7	4.83|4.83	0.62350|0.62350	.|Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.117788	.|0.64402	.|N	.|0.000018	T|T	0.31199|0.31199	0.0789|0.0789	M|M	0.66939|0.66939	2.045|2.045	0.58432|0.58432	D|D	0.999991|0.999991	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.87578	.|0.998;0.998;0.987;0.996	T|T	0.11131|0.11131	-1.0600|-1.0600	5|10	.|0.13853	.|T	.|0.58	.|.	12.3332|12.3332	0.55051|0.55051	0.0813:0.0:0.9187:0.0|0.0813:0.0:0.9187:0.0	.|.	.|187;328;328;328	.|C9J9W1;Q9NPH3-5;Q9NPH3;Q9NPH3-2	.|.;.;IL1AP_HUMAN;.	T|H	165|328;328;328;328;328;328;187;328;328	.|ENSP00000072516:R328H;ENSP00000408893:R328H;ENSP00000412053:R328H;ENSP00000401132:R328H;ENSP00000390541:R328H;ENSP00000409352:R328H;ENSP00000391899:R187H;ENSP00000387371:R328H;ENSP00000314807:R328H	.|ENSP00000072516:R328H	A|R	+|+	1|2	0|0	IL1RAP|IL1RAP	191829913|191829913	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	3.030000|3.030000	0.49720|0.49720	1.431000|1.431000	0.47355|0.47355	0.650000|0.650000	0.86243|0.86243	GCA|CGC	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343497.1		+	ENST00000412504.2	Missense_Mutation	SNP	3 : 190347219 - 190347219 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	166	36
TMPO	7112	broad.mit.edu	37	12	98927591	98927591	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:98927591A>G	ENST00000266732.4	+	4	1794	c.1556A>G	c.(1555-1557)aAa>aGa	p.K519R	TMPO_ENST00000343315.5_Intron|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000261210.5_Intron|TMPO_ENST00000556029.1_Intron	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN	thymopoietin	0						integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTGGCATGCAAATATCCAGTT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	53	52			NA	NA	12		NA											NA				98927591		2203	4300	6503	SO:0001583	missense				CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802	7112	7112			11875	protein-coding gene	gene with protein product	LEM domain containing 4	188380			NA	7517549	Standard	NM_003276	NM_003276	NA	Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000266732.4:c.1556A>G	12.37:g.98927591A>G	ENSP00000266732:p.Lys519Arg	NA	Q14861	37	CCDS9064.1	.	.	.	.	.	.	.	.	.	.	A	1.291	-0.607591	0.03717	.	.	ENSG00000120802	ENST00000266732	T	0.55234	0.53	5.65	0.434	0.16539	.	0.623617	0.17133	N	0.185749	T	0.28466	0.0704	N	0.12182	0.205	0.51767	D	0.999932	B	0.15473	0.013	B	0.20955	0.032	T	0.13045	-1.0524	10	0.08381	T	0.77	-5.1403	10.0084	0.41970	0.7043:0.0:0.2957:0.0	.	519	P42166	LAP2A_HUMAN	R	519	ENSP00000266732:K519R	ENSP00000266732:K519R	K	+	2	0	TMPO	97451722	0.988000	0.35896	0.331000	0.25455	0.324000	0.28378	0.265000	0.18515	-0.348000	0.08286	-1.162000	0.01777	AAA	TMPO-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407976.2		+	ENST00000266732.4	Missense_Mutation	SNP	12 : 98927591 - 98927591 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	72
TTN	7273	broad.mit.edu	37	2	179612429	179612429	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179612429C>A	ENST00000589042.1	-	47	11536				TTN_ENST00000360870.5_Nonsense_Mutation_p.E4900*|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	NA							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCTCAGATTCTGCTGCCTCA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	69	69			NA	NA	2		NA											NA				179612429		2203	4298	6501	SO:0001627	intron_variant			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.11311+5421G>T	2.37:g.179612429C>A		NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	55	24.574007	0.99961	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	.	.	.	5.75	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.43835	D	0.99641	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	12.9423	0.58352	0.0:0.9241:0.0:0.0759	.	.	.	.	X	4900;214	.	ENSP00000304714:E214X	E	-	1	0	TTN	179320674	0.048000	0.20356	0.003000	0.11579	0.122000	0.20287	1.568000	0.36418	1.561000	0.49584	0.650000	0.86243	GAA	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Intron	SNP	2 : 179612429 - 179612429 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	305	107
FAM111A	63901	broad.mit.edu	37	11	58920677	58920677	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58920677C>T	ENST00000528737.1	+	5	4354	c.1536C>T	c.(1534-1536)gtC>gtT	p.V512V	FAM111A_ENST00000361723.3_Silent_p.V512V|FAM111A_ENST00000531147.1_Silent_p.V512V|FAM111A_ENST00000420244.1_Silent_p.V512V|FAM111A_ENST00000533703.1_Silent_p.V512V			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	512					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				CAGAGTATGTCCATATGTATA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	97	96			NA	NA	11		NA											NA				58920677		2201	4295	6496	SO:0001819	synonymous_variant			AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801	63901	63901			24725	protein-coding gene	gene with protein product		615292			NA	11572484, 23996431, 23684011	Standard	NM_022074	NM_022074	NA	Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.1536C>T	11.37:g.58920677C>T		NA	A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	37	CCDS7973.1																																																																																			FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393975.1		+	ENST00000528737.1	Silent	SNP	11 : 58920677 - 58920677 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	497	111
MIS18A	54069	broad.mit.edu	37	21	33642728	33642728	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:33642728C>A	ENST00000290130.3	-	3	568	c.514G>T	c.(514-516)Gcc>Tcc	p.A172S	MIS18A_ENST00000486363.1_5'UTR	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN	MIS18 kinetochore protein A	172					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						CTTTCAATGGCTTCAACACTG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	77	80			NA	NA	21		NA											NA				33642728		2203	4300	6503	SO:0001583	missense			AF231921	CCDS13611.1	21q22.11	2013-10-21	2013-10-21	2011-02-23	ENSG00000159055	ENSG00000159055	54069	54069			1286	protein-coding gene	gene with protein product			chromosome 21 open reading frame 46, chromosome 21 open reading frame 45, MIS18 kinetochore protein homolog A (S. pombe)	C21orf46, C21orf45	NA	17199038	Standard	NM_018944	NM_018944	NA	Approved	B28, FASP1, hMis18alpha	uc002ypi.3	Q9NYP9	OTTHUMG00000085308	ENST00000290130.3:c.514G>T	21.37:g.33642728C>A	ENSP00000290130:p.Ala172Ser	NA	B2R562|Q542Z0	37	CCDS13611.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.002942	0.35320	.	.	ENSG00000159055	ENST00000290130	.	.	.	5.78	4.82	0.62117	.	0.134114	0.50627	D	0.000119	T	0.45637	0.1352	L	0.47016	1.485	0.32361	N	0.557132	B	0.32324	0.364	B	0.34722	0.188	T	0.52480	-0.8570	9	0.21540	T	0.41	-11.8678	12.8034	0.57598	0.174:0.826:0.0:0.0	.	172	Q9NYP9	MS18A_HUMAN	S	172	.	ENSP00000290130:A172S	A	-	1	0	MIS18A	32564599	0.732000	0.28121	0.998000	0.56505	0.909000	0.53808	1.096000	0.30976	2.724000	0.93272	0.555000	0.69702	GCC	MIS18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000193090.1		-	ENST00000290130.3	Missense_Mutation	SNP	21 : 33642728 - 33642728 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	213	22
PGBD4	161779	broad.mit.edu	37	15	34395249	34395249	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34395249C>T	ENST00000397766.2	+	1	976	c.517C>T	c.(517-519)Ctg>Ttg	p.L173L		NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	173										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		GAAACCTGAGCTGGAGATGTT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	101	102			NA	NA	15		NA											NA				34395249		2201	4298	6499	SO:0001819	synonymous_variant			AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405	161779	161779			19401	protein-coding gene	gene with protein product					NA		Standard		NM_152595	NA	Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.517C>T	15.37:g.34395249C>T		NA	A1L487|A8K0C6|Q8N9E8	37	CCDS10033.1																																																																																			PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251522.1		+	ENST00000397766.2	Silent	SNP	15 : 34395249 - 34395249 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	413	14
SEC23IP	11196	broad.mit.edu	37	10	121692664	121692664	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121692664G>A	ENST00000369075.3	+	17	2978	c.2906G>A	c.(2905-2907)aGt>aAt	p.S969N	SEC23IP_ENST00000475542.1_3'UTR|SEC23IP_ENST00000543134.1_Missense_Mutation_p.S758N	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	969	DDHD.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GCTCTTCAGAGTCACTTATGC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	125	126			NA	NA	10		NA											NA				121692664		2203	4300	6503	SO:0001583	missense			AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651	11196	11196		Sterile alpha motif (SAM) domain containing	17018	protein-coding gene	gene with protein product					NA	10400679	Standard		NM_007190	NA	Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.2906G>A	10.37:g.121692664G>A	ENSP00000358071:p.Ser969Asn	NA	D3DRD2|Q8IXH5|Q9BUK5	37	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.670203	0.88348	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.44881	0.91;0.99	5.28	5.28	0.74379	DDHD (2);	0.038155	0.85682	D	0.000000	T	0.74160	0.3680	M	0.93016	3.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.81031	-0.1117	10	0.87932	D	0	-16.7504	19.2611	0.93968	0.0:0.0:1.0:0.0	.	758;969	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	N	969;758	ENSP00000358071:S969N;ENSP00000438773:S758N	ENSP00000358071:S969N	S	+	2	0	SEC23IP	121682654	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.296000	0.72751	2.625000	0.88918	0.655000	0.94253	AGT	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050688.1		+	ENST00000369075.3	Missense_Mutation	SNP	10 : 121692664 - 121692664 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	472	80
GRM6	2916	broad.mit.edu	37	5	178413731	178413731	+	Silent	SNP	G	G	A	rs150342590		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178413731G>A	ENST00000517717.1	-	9	1562	c.1524C>T	c.(1522-1524)ggC>ggT	p.G508G	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Silent_p.G508G			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	508					detection of visible light|visual perception	integral to plasma membrane		p.G508G(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CGTGGGGGTCGCCAGACCACT	0.697		NA											G	1	5e-04	NA	0.0028	2184	NA	0.9997	,	,	NA	3e-04	NA	NA	NA	6e-04	0.7905	EXOME	NA	NA	0.0156	SNP								NA				1	Substitution - coding silent(1)	large_intestine(1)						G		0,4406		0,0,2203	29	32	31		1524	-4.6	0	5	dbSNP_134	31	4,8594	3.7+/-12.6	0,4,4295	no	coding-synonymous	GRM6	NM_000843.3		0,4,6498	AA,AG,GG	NA	0.0465,0.0,0.0308		508/878	178413731	4,13000	2203	4299	6502	SO:0001819	synonymous_variant			U82083	CCDS4442.1	5q35	2014-01-28					2916	2916		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4598	protein-coding gene	gene with protein product		604096			NA	9215706	Standard		NM_000843	NA	Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1524C>T	5.37:g.178413731G>A		NA		37	CCDS4442.1																																																																																			GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253474.2		-	ENST00000517717.1	Silent	SNP	5 : 178413731 - 178413731 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	39
BROX	148362	broad.mit.edu	37	1	222904766	222904766	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:222904766C>A	ENST00000340934.5	+	12	1463	c.1057C>A	c.(1057-1059)Cct>Act	p.P353T	BROX_ENST00000537020.1_Intron|BROX_ENST00000539697.1_Missense_Mutation_p.P321T	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN	BRO1 domain and CAAX motif containing	353	BRO1.					membrane				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						TCTCGTAGAGCCTATACCTTT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	107	106			NA	NA	1		NA											NA				222904766		2203	4300	6503	SO:0001583	missense				CCDS1534.1, CCDS73036.1, CCDS73037.1	1q41	2010-11-30	2010-11-30	2010-11-30	ENSG00000162819	ENSG00000162819	148362	148362			26512	protein-coding gene	gene with protein product	BRO1 domain containing protein		chromosome 1 open reading frame 58	C1orf58	NA	18190528	Standard	NM_144695	XM_005273065	NA	Approved	FLJ32421	uc001hnq.1	Q5VW32	OTTHUMG00000037650	ENST00000340934.5:c.1057C>A	1.37:g.222904766C>A	ENSP00000343742:p.Pro353Thr	NA	Q96MG1	37	CCDS1534.1	.	.	.	.	.	.	.	.	.	.	c	28.1	4.891619	0.91889	.	.	ENSG00000162819	ENST00000340934;ENST00000539697	T;T	0.17528	2.27;2.27	5.48	5.48	0.80851	BRO1 domain (3);	0.000000	0.85682	D	0.000000	T	0.48466	0.1501	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.47923	-0.9079	10	0.54805	T	0.06	-16.8197	19.7157	0.96119	0.0:1.0:0.0:0.0	.	321;353	B7Z9G5;Q5VW32	.;BROX_HUMAN	T	353;321	ENSP00000343742:P353T;ENSP00000441080:P321T	ENSP00000343742:P353T	P	+	1	0	BROX	220971389	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.053000	0.76641	2.749000	0.94314	0.655000	0.94253	CCT	BROX-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091815.2		+	ENST00000340934.5	Missense_Mutation	SNP	1 : 222904766 - 222904766 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	612	161
TRPV6	55503	broad.mit.edu	37	7	142575012	142575012	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142575012C>T	ENST00000359396.3	-	4	615	c.370G>A	c.(370-372)Gct>Act	p.A124T	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	124					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TTCACAACAGCGATGTGCAGT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	80	82			NA	NA	7		NA											NA				142575012		2203	4300	6503	SO:0001583	missense			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125	55503	55503		Voltage-gated ion channels / Transient receptor potential cation channels, Ankyrin repeat domain containing	14006	protein-coding gene	gene with protein product		606680	epithelial calcium channel 2	ECAC2	NA	11097838, 11549322, 16382100, 16717058	Standard	NM_014274	NM_018646	NA	Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.370G>A	7.37:g.142575012C>T	ENSP00000352358:p.Ala124Thr	NA	A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	37	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227596	0.79576	.	.	ENSG00000165125	ENST00000359396;ENST00000431833	D;T	0.81996	-1.56;-1.43	3.86	3.86	0.44501	Ankyrin repeat-containing domain (4);	0.053052	0.85682	D	0.000000	D	0.91942	0.7448	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.66196	0.942	D	0.93893	0.7181	10	0.72032	D	0.01	-12.2989	14.9814	0.71313	0.0:1.0:0.0:0.0	.	124	Q9H1D0	TRPV6_HUMAN	T	124;51	ENSP00000352358:A124T;ENSP00000415917:A51T	ENSP00000352358:A124T	A	-	1	0	TRPV6	142285134	1.000000	0.71417	0.550000	0.28217	0.993000	0.82548	7.209000	0.77916	1.995000	0.58328	0.655000	0.94253	GCT	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347662.1		-	ENST00000359396.3	Missense_Mutation	SNP	7 : 142575012 - 142575012 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	474	62
ESYT3	83850	broad.mit.edu	37	3	138195085	138195085	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138195085T>C	ENST00000389567.4	+	21	2675	c.2489T>C	c.(2488-2490)aTg>aCg	p.M830T	ESYT3_ENST00000460133.1_3'UTR	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	830	C2 3.					integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						TTTGTTCCCATGGAAGAAGTA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	99	101			NA	NA	3		NA											NA				138195085		1828	4098	5926	SO:0001583	missense			AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220	83850	83850		Synaptotagmins	24295	protein-coding gene	gene with protein product			family with sequence similarity 62 (C2 domain containing), member C	FAM62C	NA	11543631, 17672888	Standard	NM_031913	NM_031913	NA	Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.2489T>C	3.37:g.138195085T>C	ENSP00000374218:p.Met830Thr	NA	A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	37	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	T	13.28	2.191359	0.38707	.	.	ENSG00000158220	ENST00000389567	T	0.68479	-0.33	5.16	5.16	0.70880	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.261920	0.24681	U	0.036474	T	0.50531	0.1621	L	0.28740	0.885	0.80722	D	1	B	0.23128	0.08	B	0.27262	0.078	T	0.42799	-0.9430	10	0.13108	T	0.6	-8.2165	8.355	0.32324	0.1749:0.0:0.0:0.8251	.	830	A0FGR9	ESYT3_HUMAN	T	830	ENSP00000374218:M830T	ENSP00000374218:M830T	M	+	2	0	ESYT3	139677775	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.088000	0.64486	2.173000	0.68751	0.374000	0.22700	ATG	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000303993.1		+	ENST00000389567.4	Missense_Mutation	SNP	3 : 138195085 - 138195085 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	75
DNER	92737	broad.mit.edu	37	2	230231694	230231694	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:230231694C>T	ENST00000341772.4	-	12	2131	c.1997G>A	c.(1996-1998)cGc>cAc	p.R666H		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	666					central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GTATTCAATGCGGCTGATGCG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	51	54			NA	NA	2		NA											NA				230231694		2203	4300	6503	SO:0001583	missense			AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957	92737	92737			24456	protein-coding gene	gene with protein product		607299			NA	11950833, 11997712	Standard	NM_139072	NM_139072	NA	Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1997G>A	2.37:g.230231694C>T	ENSP00000345229:p.Arg666His	NA	A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	37	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	C	35	5.595384	0.96602	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.86097	-2.07	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.88119	0.6351	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87291	0.2299	10	0.39692	T	0.17	.	20.1027	0.97880	0.0:1.0:0.0:0.0	.	666	Q8NFT8	DNER_HUMAN	H	666;384	ENSP00000345229:R666H	ENSP00000345229:R666H	R	-	2	0	DNER	229939938	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.397000	0.79903	2.760000	0.94817	0.551000	0.68910	CGC	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331902.1		-	ENST00000341772.4	Missense_Mutation	SNP	2 : 230231694 - 230231694 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	254	21
NBEA	26960	broad.mit.edu	37	13	35630181	35630181	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:35630181G>A	ENST00000379939.2	+	7	1168	c.1007G>A	c.(1006-1008)cGa>cAa	p.R336Q	NBEA_ENST00000400445.3_Missense_Mutation_p.R336Q|NBEA_ENST00000540320.1_Missense_Mutation_p.R336Q|NBEA_ENST00000310336.4_Missense_Mutation_p.R336Q			Q8NFP9	NBEA_HUMAN	neurobeachin	336						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATTTACAATCGATGGAGGAAC	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													213	187	195			NA	NA	13		NA											NA				35630181		1857	4095	5952	SO:0001583	missense			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915	26960	26960		A-kinase anchor proteins, WD repeat domain containing	7648	protein-coding gene	gene with protein product		604889			NA	10501977	Standard	NM_015678	NM_015678	NA	Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000379939.2:c.1007G>A	13.37:g.35630181G>A	ENSP00000369271:p.Arg336Gln	NA	Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	37		.	.	.	.	.	.	.	.	.	.	G	34	5.323043	0.95708	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	4.88	4.88	0.63580	.	0.000000	0.64402	D	0.000001	T	0.78117	0.4233	M	0.66378	2.025	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.79605	-0.1734	10	0.52906	T	0.07	.	18.0165	0.89242	0.0:0.0:1.0:0.0	.	336	Q5T321	.	Q	336	ENSP00000440951:R336Q;ENSP00000383295:R336Q;ENSP00000369271:R336Q;ENSP00000308534:R336Q	ENSP00000308534:R336Q	R	+	2	0	NBEA	34528181	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.266000	0.75297	0.563000	0.77884	CGA	NBEA-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000044460.1		+	ENST00000379939.2	Missense_Mutation	SNP	13 : 35630181 - 35630181 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	387	74
ENTPD8	377841	broad.mit.edu	37	9	140331021	140331021	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140331021G>A	ENST00000344119.2	-	6	921	c.738C>T	c.(736-738)tgC>tgT	p.C246C	ENTPD8_ENST00000472938.1_Silent_p.C246C|ENTPD8_ENST00000371506.2_Silent_p.C246C	NM_198585.2	NP_940987.2	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	246						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		CCCGTCCAAAGCACAGGTAGC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	35	36			NA	NA	9		NA											NA				140331021		2198	4297	6495	SO:0001819	synonymous_variant			AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833	377841	377841			24860	protein-coding gene	gene with protein product	GLSR2492				NA	12975309	Standard	NM_198585	NM_198585	NA	Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000344119.2:c.738C>T	9.37:g.140331021G>A		NA	A2BG17|Q6UVZ0	37	CCDS7043.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.644662	0.29246	.	.	ENSG00000188833	ENST00000493135	T	0.48201	0.82	4.36	4.36	0.52297	.	.	.	.	.	T	0.61664	0.2365	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64854	-0.6309	6	0.52906	T	0.07	-2.6203	15.6194	0.76793	0.0:0.0:1.0:0.0	.	.	.	.	F	221	ENSP00000420099:L221F	ENSP00000420099:L221F	L	-	1	0	ENTPD8	139450842	1.000000	0.71417	0.982000	0.44146	0.455000	0.32408	3.237000	0.51344	2.257000	0.74773	0.462000	0.41574	CTT	ENTPD8-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254774.2		-	ENST00000344119.2	Silent	SNP	9 : 140331021 - 140331021 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	96	16
GJD4	219770	broad.mit.edu	37	10	35897020	35897020	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35897020G>T	ENST00000321660.1	+	2	737	c.579G>T	c.(577-579)gaG>gaT	p.E193D	RP11-425A6.5_ENST00000609313.1_RNA	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	193					cell communication	connexon complex|integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGCCCACAGAGAAGTCCCTGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	22	25			NA	NA	10		NA											NA				35897020		2203	4299	6502	SO:0001583	missense			AJ414564	CCDS7191.1	10p11.22	2007-11-27			ENSG00000177291	ENSG00000177291	219770	219770		Ion channels / Gap junction proteins (connexins)	23296	protein-coding gene	gene with protein product	connexin 40.1	611922			NA	12477932	Standard	NM_153368	NM_153368	NA	Approved	CX40.1, FLJ90023	uc001iyy.1	Q96KN9	OTTHUMG00000017957	ENST00000321660.1:c.579G>T	10.37:g.35897020G>T	ENSP00000315070:p.Glu193Asp	NA	Q8N2R7	37	CCDS7191.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870359	0.72065	.	.	ENSG00000177291	ENST00000321660	D	0.99186	-5.53	5.62	0.847	0.18961	Gap junction protein, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.99387	0.9784	H	0.96365	3.81	0.47584	D	0.999468	D	0.89917	1.0	D	0.87578	0.998	D	0.99727	1.1011	10	0.87932	D	0	.	10.5625	0.45154	0.3987:0.0:0.6013:0.0	.	193	Q96KN9	CXD4_HUMAN	D	193	ENSP00000315070:E193D	ENSP00000315070:E193D	E	+	3	2	GJD4	35937026	1.000000	0.71417	0.993000	0.49108	0.629000	0.37895	1.855000	0.39378	0.056000	0.16144	-0.469000	0.05056	GAG	GJD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047576.1		+	ENST00000321660.1	Missense_Mutation	SNP	10 : 35897020 - 35897020 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	178	19
FLCN	201163	broad.mit.edu	37	17	17124912	17124912	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17124912G>A	ENST00000285071.4	-	8	1264	c.810C>T	c.(808-810)acC>acT	p.T270T	FLCN_ENST00000389169.5_Silent_p.T270T|RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	270					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GGAGCTTCTCGGTCAGCCGGC	0.622		NA							Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome					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	29	28	28		810,810	-12.2	0	17		28	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FLCN	NM_144606.5,NM_144997.5	,	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	,	270/343,270/580	17124912	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803	201163	201163			27310	protein-coding gene	gene with protein product		607273			NA		Standard	NM_144606	NM_144997	NA	Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.810C>T	17.37:g.17124912G>A		NA	A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	37	CCDS32579.1																																																																																			FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131577.1		-	ENST00000285071.4	Silent	SNP	17 : 17124912 - 17124912 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	299	58
DLC1	10395	broad.mit.edu	37	8	12968258	12968258	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12968258G>A	ENST00000276297.4	-	7	1904	c.1495C>T	c.(1495-1497)Cta>Tta	p.L499L	DLC1_ENST00000520226.1_5'UTR|DLC1_ENST00000358919.2_Silent_p.L62L|DLC1_ENST00000512044.2_Silent_p.L96L	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	499	SAM.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TACCTGCATAGAGCCTCAATG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	162	164			NA	NA	8		NA											NA				12968258		2203	4300	6503	SO:0001819	synonymous_variant			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741	10395	10395		Rho GTPase activating proteins, StAR-related lipid transfer (START) domain containing	2897	protein-coding gene	gene with protein product	StAR-related lipid transfer (START) domain containing 12	604258	deleted in liver cancer 1		NA	9605766, 11214970	Standard	NM_182643, NM_006094	NM_182643	NA	Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1495C>T	8.37:g.12968258G>A		NA	O14868|O43199|Q7Z5R8|Q9C0E0|Q9H7A2	37	CCDS5989.1																																																																																			DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207632.2		-	ENST00000276297.4	Silent	SNP	8 : 12968258 - 12968258 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	749	148
HELB	92797	broad.mit.edu	37	12	66700219	66700219	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:66700219G>T	ENST00000247815.4	+	3	761	c.702G>T	c.(700-702)ggG>ggT	p.G234G		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	234					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GGATCATAGGGTCAGGTTCTA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	120	118			NA	NA	12		NA											NA				66700219		2203	4300	6503	SO:0001819	synonymous_variant			AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311	92797	92797			17196	protein-coding gene	gene with protein product		614539			NA	12181327	Standard		NM_033647	NA	Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.702G>T	12.37:g.66700219G>T		NA	A8K4C9|Q4G0T2|Q9H7L5	37	CCDS8976.1																																																																																			HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401919.1		+	ENST00000247815.4	Silent	SNP	12 : 66700219 - 66700219 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	525	75
TEK	7010	broad.mit.edu	37	9	27204926	27204926	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:27204926G>A	ENST00000519097.1	+	12	2236	c.1786G>A	c.(1786-1788)Ggg>Agg	p.G596R	TEK_ENST00000380036.4_Missense_Mutation_p.G743R|TEK_ENST00000406359.4_Missense_Mutation_p.G700R			Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	743	Fibronectin type-III 2.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		GGACCTCGGAGGGGGGAAGAT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	132	138			NA	NA	9		NA											NA				27204926		2203	4300	6503	SO:0001583	missense			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156	7010	7010		CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	11724	protein-coding gene	gene with protein product		600221	venous malformations, multiple cutaneous and mucosal	VMCM	NA	1312667, 7833915	Standard		XM_005251561	NA	Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000519097.1:c.1786G>A	9.37:g.27204926G>A	ENSP00000430686:p.Gly596Arg	NA	A8K6W0|D3DRK5|Q5TCU2	37		.	.	.	.	.	.	.	.	.	.	G	13.14	2.149456	0.37923	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	T;T;T	0.73789	-0.75;-0.77;-0.78	6.02	4.19	0.49359	.	0.385891	0.21778	N	0.069259	T	0.69993	0.3173	L	0.44542	1.39	0.38595	D	0.950518	P;B;P;P	0.46706	0.745;0.276;0.535;0.883	P;B;B;P	0.47402	0.448;0.093;0.331;0.546	T	0.65841	-0.6070	10	0.15952	T	0.53	.	12.5129	0.56015	0.1339:0.0:0.8661:0.0	.	596;776;700;743	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	R	596;743;700	ENSP00000430686:G596R;ENSP00000369375:G743R;ENSP00000383977:G700R	ENSP00000369375:G743R	G	+	1	0	TEK	27194926	1.000000	0.71417	0.497000	0.27552	0.159000	0.22180	3.807000	0.55591	0.883000	0.36040	0.549000	0.68633	GGG	TEK-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000379465.1		+	ENST00000519097.1	Missense_Mutation	SNP	9 : 27204926 - 27204926 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	918	83
RPL3L	6123	broad.mit.edu	37	16	1997042	1997042	+	Missense_Mutation	SNP	C	C	T	rs149043671		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1997042C>T	ENST00000268661.7	-	6	840	c.746G>A	c.(745-747)cGc>cAc	p.R249H		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	249					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						GGCCACCTTGCGCAGGCCCTT	0.672		NA											C	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	0.0032	SNP								NA				0								C	HIS/ARG	3,4395	6.2+/-15.9	0,3,2196	55	58	57		746	4	1	16	dbSNP_134	57	2,8598	2.2+/-6.3	0,2,4298	yes	missense	RPL3L	NM_005061.2	29	0,5,6494	TT,TC,CC	NA	0.0233,0.0682,0.0385	possibly-damaging	249/408	1997042	5,12993	2199	4300	6499	SO:0001583	missense			U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986	6123	6123		L ribosomal proteins	10351	protein-coding gene	gene with protein product					NA	8921388	Standard	NM_005061	NM_005061	NA	Approved		uc002cnh.3	Q92901	OTTHUMG00000128685	ENST00000268661.7:c.746G>A	16.37:g.1997042C>T	ENSP00000268661:p.Arg249His	NA		37	CCDS10450.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	16.65	3.182570	0.57800	6.82E-4	2.33E-4	ENSG00000140986	ENST00000268661	T	0.56611	0.45	4.92	3.97	0.46021	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.79540	0.4463	H	0.96269	3.795	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.85301	0.1073	10	0.87932	D	0	-17.0973	12.5964	0.56472	0.0:0.9191:0.0:0.0809	.	249	Q92901	RL3L_HUMAN	H	249	ENSP00000268661:R249H	ENSP00000268661:R249H	R	-	2	0	RPL3L	1937043	1.000000	0.71417	1.000000	0.80357	0.020000	0.10135	7.729000	0.84864	1.195000	0.43115	-0.136000	0.14681	CGC	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250582.2		-	ENST00000268661.7	Missense_Mutation	SNP	16 : 1997042 - 1997042 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	588	29
MYH10	4628	broad.mit.edu	37	17	8445487	8445487	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8445487C>T	ENST00000360416.3	-	14	1681	c.1543G>A	c.(1543-1545)Gag>Aag	p.E515K	MYH10_ENST00000396239.1_Missense_Mutation_p.E505K|MYH10_ENST00000269243.4_Missense_Mutation_p.E505K|MYH10_ENST00000379980.4_Missense_Mutation_p.E521K	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	505	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AAGTTCCACTCGATGCCTTCG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	143	151			NA	NA	17		NA											NA				8445487		2203	4300	6503	SO:0001583	missense			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026	4628	4628		Myosins / Myosin superfamily : Class II	7568	protein-coding gene	gene with protein product		160776	myosin, heavy polypeptide 10, non-muscle		NA	1860190	Standard		NM_001256012	NA	Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000360416.3:c.1543G>A	17.37:g.8445487C>T	ENSP00000353590:p.Glu515Lys	NA	Q12989|Q149N3|Q16087	37	CCDS58515.1	.	.	.	.	.	.	.	.	.	.	C	36	5.876551	0.97055	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28	4.96	4.96	0.65561	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.90614	0.7057	M	0.69358	2.11	0.80722	D	1	P;P;P	0.51147	0.906;0.942;0.906	P;P;P	0.52598	0.619;0.703;0.619	D	0.91663	0.5344	10	0.87932	D	0	.	18.7716	0.91894	0.0:1.0:0.0:0.0	.	514;515;505	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	K	505;515;505;521	ENSP00000269243:E505K;ENSP00000353590:E515K;ENSP00000379539:E505K;ENSP00000369315:E521K	ENSP00000269243:E505K	E	-	1	0	MYH10	8386212	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.651000	0.83577	2.735000	0.93741	0.563000	0.77884	GAG	MYH10-002	PUTATIVE	not_organism_supported|not_organism_supported|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258891.1		-	ENST00000360416.3	Missense_Mutation	SNP	17 : 8445487 - 8445487 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	401	74
TENM4	26011	broad.mit.edu	37	11	78369860	78369860	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:78369860G>T	ENST00000278550.7	-	34	8015	c.7553C>A	c.(7552-7554)tCt>tAt	p.S2518Y		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4	NA											NA						CCCGAGGATAGACTGATGGGG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	69	68			NA	NA	11		NA											NA				78369860		1933	4139	6072	SO:0001630	splice_region_variant			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256	26011	26011			29945	protein-coding gene	gene with protein product		610084	odz, odd Oz/ten-m homolog 4 (Drosophila)	ODZ4	NA	12000766, 10625539	Standard		NM_001098816	NA	Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.7552-1C>A	11.37:g.78369860G>T		NA		37	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454953	0.63290	.	.	ENSG00000149256	ENST00000278550	D	0.89939	-2.59	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.92273	0.7549	L	0.44542	1.39	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.90800	0.4693	9	.	.	.	.	19.2539	0.93938	0.0:0.0:1.0:0.0	.	2518	Q6N022	TEN4_HUMAN	Y	2518	ENSP00000278550:S2518Y	.	S	-	2	0	ODZ4	78047508	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	6.527000	0.73803	2.780000	0.95670	0.655000	0.94253	TCT	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391406.2	Missense_Mutation	-	ENST00000278550.7	Splice_Site	SNP	11 : 78369860 - 78369860 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	410	68
RRAGA	10670	broad.mit.edu	37	9	19050182	19050182	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:19050182C>A	ENST00000380527.1	+	1	811	c.525C>A	c.(523-525)agC>agA	p.S175R		NM_006570.4	NP_006561.1	Q7L523	RRAGA_HUMAN	Ras-related GTP binding A	175					apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(1)	3						CCTGGTCCAGCATCGTCTACC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	65	65			NA	NA	9		NA											NA				19050182		2203	4300	6503	SO:0001583	missense			BC006433	CCDS6488.1	9p21.3	2008-02-05			ENSG00000155876	ENSG00000155876	10670	10670			16963	protein-coding gene	gene with protein product		612194			NA	7499430, 8995684	Standard	NM_006570	NM_006570	NA	Approved	RAGA, FIP-1	uc003znj.3	Q7L523	OTTHUMG00000019621	ENST00000380527.1:c.525C>A	9.37:g.19050182C>A	ENSP00000369899:p.Ser175Arg	NA	B2R7L1|O00290|Q15347	37	CCDS6488.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.064092	0.36373	.	.	ENSG00000155876	ENST00000380527	T	0.64085	-0.08	4.45	-3.64	0.04515	.	0.000000	0.85682	D	0.000000	T	0.62221	0.2410	M	0.69523	2.12	0.54753	D	0.999988	B	0.27765	0.188	B	0.40410	0.328	T	0.55673	-0.8104	10	0.30078	T	0.28	-3.5752	12.9395	0.58335	0.0:0.6573:0.0:0.3427	.	175	Q7L523	RRAGA_HUMAN	R	175	ENSP00000369899:S175R	ENSP00000369899:S175R	S	+	3	2	RRAGA	19040182	0.236000	0.23804	0.953000	0.39169	0.976000	0.68499	-0.468000	0.06656	-0.662000	0.05338	-0.345000	0.07892	AGC	RRAGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051824.1		+	ENST00000380527.1	Missense_Mutation	SNP	9 : 19050182 - 19050182 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	183	9
OR5K1	26339	broad.mit.edu	37	3	98188581	98188581	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98188581G>A	ENST00000332650.5	+	1	258	c.161G>A	c.(160-162)cGg>cAg	p.R54Q		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACACACCGTCGGCTTCACACA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	270	267	268		161	-8	0	3		268	0,8598		0,0,4299	no	missense	OR5K1	NM_001004736.2	43	0,1,6501	AA,AG,GG	NA	0.0,0.0227,0.0077	benign	54/309	98188581	1,13003	2203	4299	6502	SO:0001583	missense			X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382	26339	26339		GPCR / Class A : Olfactory receptors	8349	protein-coding gene	gene with protein product					NA	1370859	Standard		NM_001004736	NA	Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.161G>A	3.37:g.98188581G>A	ENSP00000373193:p.Arg54Gln	NA	B9EGY5|Q6IF46	37	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	G	9.684	1.149967	0.21371	2.27E-4	0.0	ENSG00000232382	ENST00000332650	T	0.00583	6.41	5.18	-7.99	0.01131	GPCR, rhodopsin-like superfamily (1);	1.333180	0.05325	N	0.527211	T	0.00384	0.0012	N	0.25031	0.7	0.09310	N	1	B	0.25850	0.136	B	0.14023	0.01	T	0.44375	-0.9332	10	0.25751	T	0.34	1.2397	4.8465	0.13516	0.5597:0.0968:0.2457:0.0978	.	54	Q8NHB7	OR5K1_HUMAN	Q	54	ENSP00000373193:R54Q	ENSP00000373193:R54Q	R	+	2	0	OR5K1	99671271	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.050000	0.01404	-1.476000	0.01874	-3.439000	0.00036	CGG	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359019.1		+	ENST00000332650.5	Missense_Mutation	SNP	3 : 98188581 - 98188581 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1573	296
ASIC3	9311	broad.mit.edu	37	7	150746232	150746232	+	Missense_Mutation	SNP	C	C	T	rs140048490		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150746232C>T	ENST00000357922.4	+	1	854	c.260C>T	c.(259-261)cCg>cTg	p.P87L	ASIC3_ENST00000349064.5_Missense_Mutation_p.P87L|ASIC3_ENST00000297512.8_Missense_Mutation_p.P87L	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN	acid-sensing (proton-gated) ion channel 3	87					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity	p.P87Q(4)			NA						CTCATCTTCCCGGCTGTCACC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				4	Substitution - Missense(4)	large_intestine(2)|lung(2)						C	LEU/PRO,LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	116	93	101		260,260,260	5.1	1	7	dbSNP_134	101	0,8600		0,0,4300	no	missense,missense,missense	ACCN3	NM_004769.2,NM_020321.2,NM_020322.2	98,98,98	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	87/532,87/550,87/544	150746232	1,13005	2203	4300	6503	SO:0001583	missense			AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199	9311	9311		Ion channels / Acid-sensing (proton-gated) ion channels	101	protein-coding gene	gene with protein product	testis sodium channel 1	611741	amiloride-sensitive cation channel 3, testis, amiloride-sensitive cation channel 3	ACCN3	NA	9571199, 9744806	Standard	NM_004769	NM_004769	NA	Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000357922.4:c.260C>T	7.37:g.150746232C>T	ENSP00000350600:p.Pro87Leu	NA	B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	37	CCDS5914.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737576	0.69304	2.27E-4	0.0	ENSG00000213199	ENST00000357922;ENST00000349064;ENST00000297512	D;D;D	0.87256	-2.23;-2.23;-2.23	5.11	5.11	0.69529	.	0.000000	0.33813	U	0.004536	D	0.94781	0.8315	M	0.91196	3.185	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	D	0.95694	0.8743	10	0.87932	D	0	-16.9416	16.3968	0.83610	0.0:1.0:0.0:0.0	.	87;87;87	Q9UHC3-2;Q9UHC3-3;Q9UHC3	.;.;ACCN3_HUMAN	L	87	ENSP00000350600:P87L;ENSP00000344838:P87L;ENSP00000297512:P87L	ENSP00000297512:P87L	P	+	2	0	ACCN3	150377165	1.000000	0.71417	0.964000	0.40570	0.022000	0.10575	6.044000	0.71012	2.549000	0.85964	0.561000	0.74099	CCG	ASIC3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351723.2		+	ENST00000357922.4	Missense_Mutation	SNP	7 : 150746232 - 150746232 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	638	109
FGF23	8074	broad.mit.edu	37	12	4488548	4488548	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4488548C>A	ENST00000237837.1	-	1	346	c.201G>T	c.(199-201)caG>caT	p.Q67H		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	67					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TGTAGATGGTCTGATGGGGTG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	123	135			NA	NA	12		NA											NA				4488548		2203	4300	6503	SO:0001583	missense			AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972	8074	8074			3680	protein-coding gene	gene with protein product		605380			NA	11032749, 18310961	Standard		NM_020638	NA	Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.201G>T	12.37:g.4488548C>A	ENSP00000237837:p.Gln67His	NA	Q4V758	37	CCDS8526.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.238805	0.58995	.	.	ENSG00000118972	ENST00000237837	D	0.81579	-1.51	4.03	4.03	0.46877	.	0.175652	0.50627	D	0.000112	T	0.78117	0.4233	L	0.29908	0.895	0.40241	D	0.977963	D	0.71674	0.998	D	0.64144	0.922	T	0.75703	-0.3225	10	0.34782	T	0.22	-12.1447	4.8028	0.13305	0.0:0.7419:0.0:0.2581	.	67	Q9GZV9	FGF23_HUMAN	H	67	ENSP00000237837:Q67H	ENSP00000237837:Q67H	Q	-	3	2	FGF23	4358809	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.843000	0.39259	2.532000	0.85374	0.655000	0.94253	CAG	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398936.1		-	ENST00000237837.1	Missense_Mutation	SNP	12 : 4488548 - 4488548 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	626	85
PCDHA5	56143	broad.mit.edu	37	5	140202725	140202725	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140202725G>A	ENST00000529859.1	+	1	1365	c.1365G>A	c.(1363-1365)gcG>gcA	p.A455A	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.A455A|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.A455A	NM_018908.2	NP_061731.1			protocadherin alpha 5	NA										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCGTTCGCGCAGCCCCAGT	0.677		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	71	73	72		,,,,1365,,1365	0.7	1	5		72	2,8598	2.2+/-6.3	0,2,4298	no	intron,intron,intron,intron,coding-synonymous,intron,coding-synonymous	PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_031411.1,NM_031501.1	,,,,,,	0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154	,,,,,,	,,,,455/937,,455/817	140202725	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965	56143	56143		Cadherins / Protocadherins : Clustered	8671	other	complex locus constituent	ortholog of mouse CNR6, KIAA0345-like 9	606311		CNRS6	NA	10380929, 10662547	Standard	NM_018908	NM_018908	NA	Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1365G>A	5.37:g.140202725G>A		NA		37	CCDS54917.1																																																																																			PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372883.2		+	ENST00000529859.1	Silent	SNP	5 : 140202725 - 140202725 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	736	28
PSAP	5660	broad.mit.edu	37	10	73588645	73588645	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73588645G>A	ENST00000394936.3	-	5	712	c.565C>T	c.(565-567)Ccc>Tcc	p.P189S	PSAP_ENST00000394934.1_Missense_Mutation_p.P189S			P07602	SAP_HUMAN	prosaposin	189					glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						TTTGGCTGGGGCTTGCTGCGG	0.582		NA											G	2	9e-04	NA	NA	2184	0.0035	0.9999	,	,	NA	4e-04	NA	NA	NA	9e-04	0.9524	LOWCOV,EXOME	NA	NA	0.0031	SNP								NA				0													40	42	41			NA	NA	10		NA											NA				73588645		2203	4300	6503	SO:0001583	missense			BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746	5660	5660		Endogenous ligands	9498	protein-coding gene	gene with protein product	variant Gaucher disease and variant metachromatic leukodystrophy	176801	sphingolipid activator protein-1	SAP1, GLBA	NA	2717620	Standard	NM_002778	NM_001042465	NA	Approved		uc001jsm.3	P07602	OTTHUMG00000018429	ENST00000394936.3:c.565C>T	10.37:g.73588645G>A	ENSP00000378394:p.Pro189Ser	NA	P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	37	CCDS7311.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	12.48	1.949636	0.34377	.	.	ENSG00000197746	ENST00000394936;ENST00000373120;ENST00000357471;ENST00000394934;ENST00000404083;ENST00000394940	T;T	0.70631	-0.5;-0.5	4.53	3.59	0.41128	.	0.289616	0.37715	N	0.001962	T	0.54515	0.1863	L	0.28458	0.855	0.33022	D	0.52902	B	0.21688	0.059	B	0.19148	0.024	T	0.58020	-0.7710	10	0.26408	T	0.33	-0.0286	9.2139	0.37335	0.0:0.1371:0.6563:0.2067	.	189	P07602	SAP_HUMAN	S	189;189;189;189;192;114	ENSP00000378394:P189S;ENSP00000378392:P189S	ENSP00000350063:P189S	P	-	1	0	PSAP	73258651	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	1.516000	0.35856	1.198000	0.43158	0.313000	0.20887	CCC	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048553.1		-	ENST00000394936.3	Missense_Mutation	SNP	10 : 73588645 - 73588645 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	303	55
WASF3	10810	broad.mit.edu	37	13	27255212	27255212	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27255212G>A	ENST00000335327.5	+	8	916	c.738G>A	c.(736-738)acG>acA	p.T246T	WASF3_ENST00000361042.4_Silent_p.T243T	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	246					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CGGACGTTACGGATTACTCTT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	97	94			NA	NA	13		NA											NA				27255212		2203	4300	6503	SO:0001819	synonymous_variant			AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970	10810	10810			12734	protein-coding gene	gene with protein product		605068			NA	10381382	Standard		NM_006646	NA	Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.738G>A	13.37:g.27255212G>A		NA	O94974	37	CCDS9318.1																																																																																			WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044258.1		+	ENST00000335327.5	Silent	SNP	13 : 27255212 - 27255212 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	904	171
MCM3AP	8888	broad.mit.edu	37	21	47690332	47690332	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47690332G>A	ENST00000397708.1	-	10	2865	c.2611C>T	c.(2611-2613)Cac>Tac	p.H871Y	MCM3AP_ENST00000291688.1_Missense_Mutation_p.H871Y			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	871					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AAGTAACAGTGTAAAAGACAA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	93	93			NA	NA	21		NA											NA				47690332		2203	4300	6503	SO:0001583	missense			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294	8888	8888			6946	protein-coding gene	gene with protein product	germinal-centre associated nuclear protein	603294	minichromosome maintenance deficient (S. cerevisiae) 3-associated protein, MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein		NA	9712829, 16914116, 21195085	Standard	NM_003906	XM_005261205	NA	Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.2611C>T	21.37:g.47690332G>A	ENSP00000380820:p.His871Tyr	NA	Q2M3C1|Q9UMT4	37	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768739	0.90020	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.29655	1.56;1.56	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.60301	0.2258	M	0.79011	2.435	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	T	0.58847	-0.7564	10	0.54805	T	0.06	-23.8917	20.4366	0.99092	0.0:0.0:1.0:0.0	.	871	O60318	MCM3A_HUMAN	Y	871	ENSP00000380820:H871Y;ENSP00000291688:H871Y	ENSP00000291688:H871Y	H	-	1	0	MCM3AP	46514760	1.000000	0.71417	0.589000	0.28718	0.976000	0.68499	9.526000	0.98042	2.837000	0.97791	0.591000	0.81541	CAC	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207254.1		-	ENST00000397708.1	Missense_Mutation	SNP	21 : 47690332 - 47690332 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	538	62
KIAA1211L	343990	broad.mit.edu	37	2	99438351	99438351	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99438351C>T	ENST00000397899.2	-	7	2716	c.2385G>A	c.(2383-2385)acG>acA	p.T795T		NM_207362.2	NP_997245.2			KIAA1211-like	NA											NA						TTTTCTCCGCCGTCCTGGGCT	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	16	15			NA	NA	2		NA											NA				99438351		1863	4103	5966	SO:0001819	synonymous_variant			BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872	343990	343990			33454	protein-coding gene	gene with protein product			chromosome 2 open reading frame 55	C2orf55	NA		Standard	NM_207362	NM_207362	NA	Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.2385G>A	2.37:g.99438351C>T		NA		37	CCDS42720.1																																																																																			KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329933.1		-	ENST00000397899.2	Silent	SNP	2 : 99438351 - 99438351 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	177	46
GNA11	2767	broad.mit.edu	37	19	3121121	3121121	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3121121G>A	ENST00000078429.4	+	7	1266	c.1024G>A	c.(1024-1026)Gcg>Acg	p.A342T	GNA11_ENST00000586180.1_3'UTR|AC005262.2_ENST00000585980.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	342					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		CTTCGTGTTCGCGGCCGTGAA	0.597		NA	Mis		uveal melanoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		19	19p13.3	2767	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)		E	0													88	58	68			NA	NA	19		NA											NA				3121121		2203	4300	6503	SO:0001583	missense			AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256	2767	2767			4379	protein-coding gene	gene with protein product		139313	hypocalciuric hypercalcemia 2	HHC2	NA	1302014, 23802516	Standard	NM_002067	NM_002067	NA	Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.1024G>A	19.37:g.3121121G>A	ENSP00000078429:p.Ala342Thr	NA	O15109|Q14350|Q6IB00	37	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.519968	0.44866	.	.	ENSG00000088256	ENST00000078429	D	0.89485	-2.52	3.45	3.45	0.39498	.	0.000000	0.53938	D	0.000051	D	0.87241	0.6128	M	0.65498	2.005	0.46564	D	0.999102	B	0.14805	0.011	B	0.17433	0.018	D	0.85982	0.1483	10	0.52906	T	0.07	.	13.6444	0.62272	0.0:0.0:1.0:0.0	.	342	P29992	GNA11_HUMAN	T	342	ENSP00000078429:A342T	ENSP00000078429:A342T	A	+	1	0	GNA11	3072121	1.000000	0.71417	0.951000	0.38953	0.972000	0.66771	4.927000	0.63440	1.773000	0.52216	0.561000	0.74099	GCG	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452261.2		+	ENST00000078429.4	Missense_Mutation	SNP	19 : 3121121 - 3121121 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	257	46
NOVA2	4858	broad.mit.edu	37	19	46443145	46443145	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46443145G>A	ENST00000263257.5	-	4	1649	c.1455C>T	c.(1453-1455)gcC>gcT	p.A485A		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	485						nucleus	RNA binding			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GGGGGTTTGAGGCCCTCACTC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	46	45			NA	NA	19		NA											NA				46443145		2203	4300	6503	SO:0001819	synonymous_variant			U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967	4858	4858			7887	protein-coding gene	gene with protein product	neuro-oncological ventral antigen 3	601991		NOVA3	NA	9344654, 10368286	Standard	NM_002516	NM_002516	NA	Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.1455C>T	19.37:g.46443145G>A		NA	O43267|Q9UEA1	37	CCDS12679.1																																																																																			NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437210.2		-	ENST00000263257.5	Silent	SNP	19 : 46443145 - 46443145 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	67
ZNF800	168850	broad.mit.edu	37	7	127014937	127014937	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127014937A>G	ENST00000393313.1	-	5	1044	c.453T>C	c.(451-453)gaT>gaC	p.D151D	ZNF800_ENST00000393312.1_Silent_p.D151D|ZNF800_ENST00000265827.3_Silent_p.D151D			Q2TB10	ZN800_HUMAN	zinc finger protein 800	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						CAATAGGATTATCAGTCCTCG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	110	111			NA	NA	7		NA											NA				127014937		2203	4300	6503	SO:0001819	synonymous_variant			AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405	168850	168850		Zinc fingers, C2H2-type	27267	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_176814	NM_176814	NA	Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.453T>C	7.37:g.127014937A>G		NA	Q9HBN0	37	CCDS5795.1																																																																																			ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000141823.1		-	ENST00000393313.1	Silent	SNP	7 : 127014937 - 127014937 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	397	71
PHACTR1	221692	broad.mit.edu	37	6	13206106	13206106	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:13206106C>T	ENST00000379350.1	+	7	853	c.724C>T	c.(724-726)Cca>Tca	p.P242S	PHACTR1_ENST00000457702.2_Missense_Mutation_p.P97S|PHACTR1_ENST00000332995.7_Missense_Mutation_p.P242S|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	242						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TCCGCTACCTCCAAAGAAAGT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	63	61			NA	NA	6		NA											NA				13206106		1965	4151	6116	SO:0001583	missense			AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137	221692	221692		Phosphatase and actin regulators	20990	protein-coding gene	gene with protein product		608723	RPEL repeat containing 1	RPEL1	NA	11214970, 15107502	Standard	XM_166420	NM_030948	NA	Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.724C>T	6.37:g.13206106C>T	ENSP00000368655:p.Pro242Ser	NA	A8K1V2|Q3MJ93|Q5JSJ2	37		.	.	.	.	.	.	.	.	.	.	C	22.1	4.238812	0.79800	.	.	ENSG00000112137	ENST00000379350;ENST00000332995;ENST00000432934;ENST00000457702	T;T;T	0.48201	0.82;1.04;1.03	5.22	5.22	0.72569	.	0.098175	0.64402	D	0.000001	T	0.44808	0.1311	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.87578	0.986;0.994;0.998	T	0.16660	-1.0395	10	0.11485	T	0.65	-6.6846	17.938	0.89018	0.0:1.0:0.0:0.0	.	311;242;242	E7ESR5;Q9C0D0;Q9C0D0-2	.;PHAR1_HUMAN;.	S	242;242;311;97	ENSP00000368655:P242S;ENSP00000329880:P242S;ENSP00000397669:P97S	ENSP00000329880:P242S	P	+	1	0	PHACTR1	13314085	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.310000	0.65780	2.700000	0.92200	0.561000	0.74099	CCA	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000039876.1		+	ENST00000379350.1	Missense_Mutation	SNP	6 : 13206106 - 13206106 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	408	51
NAA25	80018	broad.mit.edu	37	12	112481532	112481532	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112481532G>A	ENST00000261745.4	-	18	2395	c.2147C>T	c.(2146-2148)gCc>gTc	p.A716V		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	716						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CCCATTCTCGGCAGTCTTCTC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	88	87			NA	NA	12		NA											NA				112481532		2203	4300	6503	SO:0001583	missense			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300	80018	80018		N(alpha)-acetyltransferase subunits	25783	protein-coding gene	gene with protein product		612755	chromosome 12 open reading frame 30	C12orf30	NA	19660095	Standard	NM_024953	NM_024953	NA	Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.2147C>T	12.37:g.112481532G>A	ENSP00000261745:p.Ala716Val	NA	A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	37	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444247	0.63067	.	.	ENSG00000111300	ENST00000261745	T	0.23950	1.88	5.79	5.79	0.91817	.	0.303172	0.36482	N	0.002567	T	0.20861	0.0502	N	0.19112	0.55	0.28563	N	0.911021	B;B	0.18741	0.02;0.03	B;B	0.15870	0.014;0.014	T	0.06552	-1.0820	10	0.33141	T	0.24	-1.2518	20.0473	0.97613	0.0:0.0:1.0:0.0	.	716;716	A8K8X0;Q14CX7	.;NAA25_HUMAN	V	716	ENSP00000261745:A716V	ENSP00000261745:A716V	A	-	2	0	NAA25	110965915	1.000000	0.71417	0.959000	0.39883	0.914000	0.54420	5.923000	0.70045	2.722000	0.93159	0.655000	0.94253	GCC	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405205.1		-	ENST00000261745.4	Missense_Mutation	SNP	12 : 112481532 - 112481532 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	649	57
RNF213	57674	broad.mit.edu	37	17	78337097	78337097	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78337097C>T	ENST00000508628.2	+	41	11843	c.11698C>T	c.(11698-11700)Ctg>Ttg	p.L3900L	RNF213_ENST00000336301.6_Silent_p.L1924L|RNF213_ENST00000582970.1_Silent_p.L3851L|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA			Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GAACCATGAGCTGGCTGGATG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	76	80			NA	NA	17		NA											NA				78337097		2203	4300	6503	SO:0001819	synonymous_variant			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821	57674	57674		RING-type (C3HC4) zinc fingers	14539	protein-coding gene	gene with protein product		613768	chromosome 17 open reading frame 27, KIAA1618, moyamoya disease 2, Moyamoya disease 2	C17orf27, KIAA1618, MYMY2	NA	10997877, 21048783, 21799892	Standard	NM_020914	NM_020954	NA	Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000508628.2:c.11698C>T	17.37:g.78337097C>T		NA	Q69YK7|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406	37																																																																																				RNF213-001	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000364861.3		+	ENST00000508628.2	Silent	SNP	17 : 78337097 - 78337097 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	436	21
RARS2	57038	broad.mit.edu	37	6	88272489	88272489	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88272489T>C	ENST00000369536.5	-	4	273	c.228A>G	c.(226-228)acA>acG	p.T76T		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	76					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		CACTCACCACTGTATCACATC	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	102	106			NA	NA	6		NA											NA				88272489		2202	4299	6501	SO:0001819	synonymous_variant			AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	57038	57038	6.1.1.19	Aminoacyl tRNA synthetases / Class I	21406	protein-coding gene	gene with protein product	arginine tRNA ligase 2, mitochondrial (putative)	611524	arginyl-tRNA synthetase-like	RARSL	NA	17847012	Standard	NM_020320	NM_020320	NA	Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.228A>G	6.37:g.88272489T>C		NA	B2RDT7|Q96FU5|Q9H8K8	37	CCDS5011.1	.	.	.	.	.	.	.	.	.	.	T	8.622	0.891586	0.17613	.	.	ENSG00000146282	ENST00000451155	.	.	.	5.51	4.35	0.52113	.	.	.	.	.	T	0.45054	0.1323	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43956	-0.9359	4	.	.	.	.	8.2043	0.31443	0.0:0.0906:0.0:0.9094	.	.	.	.	R	104	.	.	Q	-	2	0	RARS2	88329208	0.997000	0.39634	1.000000	0.80357	0.987000	0.75469	0.098000	0.15189	0.918000	0.36919	-0.256000	0.11100	CAG	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041448.1		-	ENST00000369536.5	Silent	SNP	6 : 88272489 - 88272489 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	275	51
ATP5B	506	broad.mit.edu	37	12	57032949	57032949	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57032949T>C	ENST00000262030.3	-	9	1480	c.1430A>G	c.(1429-1431)cAt>cGt	p.H477R	ATP5B_ENST00000552919.1_Missense_Mutation_p.H466R	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	477					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTCCCCATATGACCTGTGAA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	157	160			NA	NA	12		NA											NA				57032949		2203	4300	6503	SO:0001583	missense			M27132	CCDS8924.1	12p13.3	2012-10-12			ENSG00000110955	ENSG00000110955	506	506	3.6.3.14	Mitochondrial respiratory chain complex / Complex V, ATPases / F-type	830	protein-coding gene	gene with protein product		102910		ATPSB	NA	2687158	Standard	NM_001686	NM_001686	NA	Approved		uc001slr.3	P06576	OTTHUMG00000170291	ENST00000262030.3:c.1430A>G	12.37:g.57032949T>C	ENSP00000262030:p.His477Arg	NA	A8K4X0|Q14283	37	CCDS8924.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.310785	0.60414	.	.	ENSG00000110955	ENST00000262030;ENST00000552919;ENST00000552104	T;T;T	0.76060	-0.99;-0.99;-0.99	5.77	5.77	0.91146	ATPase, F1/V1/A1 complex, alpha/beta subunit, C-terminal (2);ATPase, F1 complex beta subunit/V1 complex, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60919	0.2306	N	0.20445	0.575	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.55995	-0.8052	10	0.24483	T	0.36	-13.3117	15.1371	0.72576	0.0:0.0:0.0:1.0	.	477	P06576	ATPB_HUMAN	R	477;466;180	ENSP00000262030:H477R;ENSP00000450297:H466R;ENSP00000450233:H180R	ENSP00000262030:H477R	H	-	2	0	ATP5B	55319216	1.000000	0.71417	0.954000	0.39281	0.998000	0.95712	7.872000	0.87187	2.221000	0.72209	0.529000	0.55759	CAT	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408380.1		-	ENST00000262030.3	Missense_Mutation	SNP	12 : 57032949 - 57032949 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	812	143
ABLIM1	3983	broad.mit.edu	37	10	116196108	116196108	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116196108G>A	ENST00000392952.3	-	18	1604	c.1279C>T	c.(1279-1281)Cgg>Tgg	p.R427W	ABLIM1_ENST00000369266.3_Missense_Mutation_p.R427W|ABLIM1_ENST00000369252.4_Missense_Mutation_p.R690W|ABLIM1_ENST00000533213.2_Missense_Mutation_p.R690W|ABLIM1_ENST00000369253.2_Missense_Mutation_p.R373W|ABLIM1_ENST00000277895.5_Missense_Mutation_p.R750W	NM_006720.3	NP_006711.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	750					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		AAGATTTCCCGAAACACTTCA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	105	106			NA	NA	10		NA											NA				116196108		2203	4300	6503	SO:0001583	missense			AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204	3983	3983			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM	NA	9245787	Standard		NM_002313	NA	Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000392952.3:c.1279C>T	10.37:g.116196108G>A	ENSP00000376679:p.Arg427Trp	NA	A6NI16|A6NJ06|A8MXA9|Q15039|Q5JVV1|Q5JVV2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	37	CCDS31289.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438391	0.43326	.	.	ENSG00000099204	ENST00000336585;ENST00000369252;ENST00000392952;ENST00000369257;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369266;ENST00000369256;ENST00000369260;ENST00000277895;ENST00000369253	T;T;T;T	0.31769	1.64;1.48;1.64;1.48	5.95	4.08	0.47627	Villin headpiece (5);	0.511140	0.22513	N	0.059068	T	0.23727	0.0574	L	0.32530	0.975	0.28110	N	0.931034	B;B;B;B	0.10296	0.001;0.002;0.001;0.003	B;B;B;B	0.10450	0.001;0.001;0.005;0.003	T	0.14587	-1.0467	10	0.51188	T	0.08	.	10.343	0.43891	0.1527:0.0:0.8473:0.0	.	690;718;750;427	F8W8M4;A6NKJ2;O14639;O14639-5	.;.;ABLM1_HUMAN;.	W	750;690;427;373;718;690;818;674;427;674;627;818;502	ENSP00000358256:R690W;ENSP00000376679:R427W;ENSP00000433629:R690W;ENSP00000358270:R427W	ENSP00000277895:R818W	R	-	1	2	ABLIM1	116186098	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.808000	0.55598	0.832000	0.34804	0.491000	0.48974	CGG	ABLIM1-009	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050477.2		-	ENST00000392952.3	Missense_Mutation	SNP	10 : 116196108 - 116196108 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	505	83
PBX3	5090	broad.mit.edu	37	9	128725346	128725346	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128725346G>A	ENST00000373487.4	+	9	1321	c.1241G>A	c.(1240-1242)gGa>gAa	p.G414E	PBX3_ENST00000373489.5_Missense_Mutation_p.G393E|PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000447726.2_Missense_Mutation_p.G318E|PBX3_ENST00000342287.5_3'UTR|PBX3_ENST00000373483.2_Missense_Mutation_p.G212E			P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	393					anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						GATGGCCTTGGAGGAAATTCA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	96	99			NA	NA	9		NA											NA				128725346		2203	4300	6503	SO:0001583	missense				CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081	5090	5090		Homeoboxes / TALE class	8634	protein-coding gene	gene with protein product		176312	pre-B-cell leukemia transcription factor 3		NA	1682799	Standard		NM_006195	NA	Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373487.4:c.1241G>A	9.37:g.128725346G>A	ENSP00000362586:p.Gly414Glu	NA	Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	37		.	.	.	.	.	.	.	.	.	.	G	17.74	3.463730	0.63513	.	.	ENSG00000167081	ENST00000373489;ENST00000373487;ENST00000373483;ENST00000447726	D;T;D;D	0.88201	-2.13;1.94;-2.31;-2.35	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.84674	0.5524	L	0.38175	1.15	0.80722	D	1	P;B	0.42078	0.77;0.286	B;B	0.41440	0.357;0.104	T	0.80888	-0.1181	10	0.02654	T	1	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	414;393	Q5JS98;P40426	.;PBX3_HUMAN	E	393;414;212;318	ENSP00000362588:G393E;ENSP00000362586:G414E;ENSP00000362582:G212E;ENSP00000387456:G318E	ENSP00000362582:G212E	G	+	2	0	PBX3	127765167	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.568000	0.82369	2.937000	0.99478	0.650000	0.86243	GGA	PBX3-007	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000054103.2		+	ENST00000373487.4	Missense_Mutation	SNP	9 : 128725346 - 128725346 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	130	14
FLNC	2318	broad.mit.edu	37	7	128494556	128494556	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128494556G>A	ENST00000325888.8	+	41	7078	c.6817G>A	c.(6817-6819)Gcc>Acc	p.A2273T	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.A2240T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2273					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGAGGACAGCGCCTACAGCGT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA,THR/ALA	0,4334		0,0,2167	24	30	28		6718,6817	5	0.7	7		28	2,8514		0,2,4256	no	missense,missense	FLNC	NM_001127487.1,NM_001458.4	58,58	0,2,6423	AA,AG,GG	NA	0.0235,0.0,0.0156	benign,benign	2240/2693,2273/2726	128494556	2,12848	2167	4258	6425	SO:0001583	missense			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591	2318	2318			3756	protein-coding gene	gene with protein product	actin binding protein 280	102565	filamin C, gamma (actin binding protein 280)	FLN2	NA	7689010, 8088838	Standard		NM_001458	NA	Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.6817G>A	7.37:g.128494556G>A	ENSP00000327145:p.Ala2273Thr	NA	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	37	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615827	0.28801	0.0	2.35E-4	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.80653	-1.4;-1.4	4.99	4.99	0.66335	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.059482	0.64402	D	0.000002	T	0.47173	0.1431	N	0.00321	-1.65	0.42726	D	0.993695	B;B	0.12630	0.004;0.006	B;B	0.11329	0.003;0.006	T	0.51896	-0.8647	10	0.30854	T	0.27	.	8.8771	0.35352	0.1742:0.0:0.8258:0.0	.	2240;2273	Q14315-2;Q14315	.;FLNC_HUMAN	T	2273;2240	ENSP00000327145:A2273T;ENSP00000344002:A2240T	ENSP00000327145:A2273T	A	+	1	0	FLNC	128281792	0.966000	0.33281	0.698000	0.30274	0.926000	0.56050	2.589000	0.46145	2.301000	0.77427	0.655000	0.94253	GCC	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059948.3		+	ENST00000325888.8	Missense_Mutation	SNP	7 : 128494556 - 128494556 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	69	20
MAGEC3	139081	broad.mit.edu	37	X	140969366	140969366	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140969366G>A	ENST00000298296.1	+	4	693	c.693G>A	c.(691-693)gaG>gaA	p.E231E	MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000536088.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	231	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCCCGTGAGTTCATAGAGA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	138	143			NA	NA	X		NA											NA				140969366		2203	4300	6503	SO:0001819	synonymous_variant			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509	139081	139081			23798	protein-coding gene	gene with protein product	cancer/testis antigen family 7, member 2	300469			NA	10861452	Standard	NM_138702	NM_138702	NA	Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.693G>A	X.37:g.140969366G>A		NA	Q5JZ43|Q9BZ80	37	CCDS14676.1																																																																																			MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058606.1		+	ENST00000298296.1	Silent	SNP	X : 140969366 - 140969366 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	597	154
IGF2BP1	10642	broad.mit.edu	37	17	47075176	47075176	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47075176G>A	ENST00000290341.3	+	1	403	c.69G>A	c.(67-69)gcG>gcA	p.A23A	IGF2BP1_ENST00000431824.2_Silent_p.A23A|IGF2BP1_ENST00000515586.1_3'UTR	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	23	RRM 1.				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AAGTGTTTGCGGAGCACAAGA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(198;1041 2123 8248 37119 38268)							NA				0													111	107	108			NA	NA	17		NA											NA				47075176		2203	4300	6503	SO:0001819	synonymous_variant			AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217	10642	10642		RNA binding motif (RRM) containing	28866	protein-coding gene	gene with protein product	IGF II mRNA binding protein 1	608288			NA	9891060, 11992722	Standard	NM_006546	NM_001160423	NA	Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.69G>A	17.37:g.47075176G>A		NA		37	CCDS11543.1																																																																																			IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364046.1		+	ENST00000290341.3	Silent	SNP	17 : 47075176 - 47075176 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	665	147
TCN2	6948	broad.mit.edu	37	22	31008947	31008947	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31008947C>A	ENST00000405742.3	+	3	513	c.333C>A	c.(331-333)aaC>aaA	p.N111K	TCN2_ENST00000215838.3_Missense_Mutation_p.N115K|TCN2_ENST00000407817.3_Splice_Site_p.N115K	NM_000355.3	NP_000346.2	P20062	TCO2_HUMAN	transcobalamin II	115					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCAGAGCCAACTGTGAGTTTG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	57	59			NA	NA	22		NA											NA				31008947		2203	4300	6503	SO:0001583	missense				CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339	6948	6948			11653	protein-coding gene	gene with protein product	macrocytic anemia	613441	transcobalamin II; macrocytic anemia		NA	1708393, 7742531	Standard	NM_000355	NM_000355	NA	Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000405742.3:c.333C>A	22.37:g.31008947C>A	ENSP00000385914:p.Asn111Lys	NA	Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	37		.	.	.	.	.	.	.	.	.	.	C	15.27	2.784339	0.49997	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.36520	2.62;2.62;1.25	5.41	5.41	0.78517	.	0.252999	0.45867	D	0.000331	T	0.56630	0.1998	M	0.72479	2.2	0.80722	D	1	D;D;D	0.76494	0.99;0.999;0.999	D;D;D	0.70935	0.921;0.971;0.971	T	0.50499	-0.8821	10	0.18276	T	0.48	-35.3893	16.1181	0.81324	0.0:1.0:0.0:0.0	.	115;111;115	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	K	115;111;115	ENSP00000215838:N115K;ENSP00000385914:N111K;ENSP00000384914:N115K	ENSP00000215838:N115K	N	+	3	2	TCN2	29338947	1.000000	0.71417	1.000000	0.80357	0.308000	0.27856	2.753000	0.47524	2.541000	0.85698	0.655000	0.94253	AAC	TCN2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000321283.1		+	ENST00000405742.3	Missense_Mutation	SNP	22 : 31008947 - 31008947 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	63
SLC2A9	56606	broad.mit.edu	37	4	10027631	10027631	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:10027631C>A	ENST00000506583.1	-	3	178		c.e3-1		SLC2A9_ENST00000309065.3_Splice_Site			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	NA					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						GTTATTGTTTCTGAGAAAGAG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	87	85			NA	NA	4		NA											NA				10027631		2202	4300	6502	SO:0001630	splice_region_variant			AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667	56606	56606		Solute carriers	13446	protein-coding gene	gene with protein product	urate voltage-driven efflux transporter 1	606142			NA	10860667, 17710649	Standard		NM_020041	NA	Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000506583.1:c.40-1G>T	4.37:g.10027631C>A		NA	Q0VGC4|Q4W5D1|Q8WV30|Q96P00	37	CCDS3406.1																																																																																			SLC2A9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207054.2	Intron	-	ENST00000506583.1	Splice_Site	SNP	4 : 10027631 - 10027631 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	56
EPX	8288	broad.mit.edu	37	17	56281654	56281654	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56281654G>A	ENST00000225371.5	+	12	2128	c.2018G>A	c.(2017-2019)cGa>cAa	p.R673Q		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	673					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	p.R673Q(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						TCCTTGTCTCGAATTATATGT	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)	endometrium(1)						G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	114	100	105		2018	5.7	1	17		105	0,8600		0,0,4300	no	missense	EPX	NM_000502.4	43	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging	673/716	56281654	1,13005	2203	4300	6503	SO:0001583	missense			M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	8288	8288	1.11.1.7		3423	protein-coding gene	gene with protein product		131399			NA	2550461, 2541222	Standard	NM_000502	NM_000502	NA	Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.2018G>A	17.37:g.56281654G>A	ENSP00000225371:p.Arg673Gln	NA	Q4TVP3	37	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	G	32	5.155851	0.94686	2.27E-4	0.0	ENSG00000121053	ENST00000225371	T	0.74737	-0.87	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.85309	0.5667	M	0.85945	2.785	0.58432	D	0.999998	D	0.76494	0.999	P	0.56563	0.801	D	0.87659	0.2533	10	0.87932	D	0	-2.5207	17.2336	0.86991	0.0:0.0:1.0:0.0	.	673	P11678	PERE_HUMAN	Q	673	ENSP00000225371:R673Q	ENSP00000225371:R673Q	R	+	2	0	EPX	53636653	0.988000	0.35896	0.996000	0.52242	0.597000	0.36814	4.535000	0.60629	2.660000	0.90430	0.655000	0.94253	CGA	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443367.1		+	ENST00000225371.5	Missense_Mutation	SNP	17 : 56281654 - 56281654 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	494	81
STAT6	6778	broad.mit.edu	37	12	57499295	57499295	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57499295C>T	ENST00000537215.2	-	7	882	c.438G>A	c.(436-438)tcG>tcA	p.S146S	STAT6_ENST00000454075.3_Silent_p.S256S|STAT6_ENST00000300134.3_Silent_p.S256S|STAT6_ENST00000538913.2_Silent_p.S146S|STAT6_ENST00000543873.2_Silent_p.S256S|STAT6_ENST00000556155.1_Silent_p.S256S	NM_001178080.1	NP_001171551.1	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	256					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GGCCAGTCAGCGATGCCCGGG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	52	51			NA	NA	12		NA											NA				57499295		2203	4300	6503	SO:0001819	synonymous_variant			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888	6778	6778		SH2 domain containing	11368	protein-coding gene	gene with protein product		601512			NA	9605853, 8085155	Standard	NM_003153	NM_003153	NA	Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000537215.2:c.438G>A	12.37:g.57499295C>T		NA	A8K316|Q5FBW5|Q71UP4	37	CCDS53804.1																																																																																			STAT6-006	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412254.1		-	ENST00000537215.2	Silent	SNP	12 : 57499295 - 57499295 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	223	41
CCR2	729230	broad.mit.edu	37	3	46399102	46399102	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46399102C>T	ENST00000445132.2	+	2	579	c.84C>T	c.(82-84)taC>taT	p.Y28Y	CCR2_ENST00000465202.1_Intron|CCR2_ENST00000292301.4_Silent_p.Y28Y|CCR2_ENST00000400888.2_Silent_p.Y28Y	NM_001123396.1	NP_001116868.1	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	28					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		ATTATGATTACGGTGCTCCCT	0.478		NA											C	1	5e-04	NA	NA	2184	0.0017	0.9999	,	,	NA	2e-04	NA	NA	NA	4e-04	0.8999	EXOME	NA	NA	2e-04	SNP								NA				0													190	170	176			NA	NA	3		NA											NA				46399102		1568	3582	5150	SO:0001819	synonymous_variant				CCDS43078.1, CCDS46813.1	3p21	2012-08-08			ENSG00000121807	ENSG00000121807	729230	729230		GPCR / Class A : Chemokine receptors : C-C motif, CD molecules	1603	protein-coding gene	gene with protein product		601267		CMKBR2	NA	8146186	Standard	NM_000647	NM_001123041	NA	Approved	CC-CKR-2, CKR2, MCP-1-R, CD192, FLJ78302	uc003cpn.4	P41597	OTTHUMG00000156466	ENST00000445132.2:c.84C>T	3.37:g.46399102C>T		NA	A0AVQ3|B2RMT0	37	CCDS46813.1																																																																																			CCR2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344293.1		+	ENST00000445132.2	Silent	SNP	3 : 46399102 - 46399102 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	573	112
CECR2	27443	broad.mit.edu	37	22	18022369	18022369	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18022369C>A	ENST00000400585.2	+	16	2486	c.2048C>A	c.(2047-2049)tCt>tAt	p.S683Y	CECR2_ENST00000400573.5_Missense_Mutation_p.S824Y|CECR2_ENST00000262608.8_Missense_Mutation_p.S825Y			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	866					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCCTGCAAGTCTGCCGGACAT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	66	64			NA	NA	22		NA											NA				18022369		2075	4211	6286	SO:0001583	missense			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954	27443	27443			1840	protein-coding gene	gene with protein product		607576			NA	11381032	Standard	NM_031413	XM_006724077	NA	Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.2048C>A	22.37:g.18022369C>A	ENSP00000383428:p.Ser683Tyr	NA	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	37		.	.	.	.	.	.	.	.	.	.	C	18.13	3.555683	0.65425	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.32753	1.56;1.54;1.44	5.29	5.29	0.74685	.	0.393815	0.21845	N	0.068264	T	0.46288	0.1385	L	0.60455	1.87	0.30810	N	0.738989	D;D;D	0.61080	0.976;0.989;0.976	P;P;P	0.57283	0.726;0.817;0.726	T	0.51601	-0.8685	10	0.87932	D	0	-8.3622	13.8455	0.63466	0.0:0.8475:0.1525:0.0	.	866;683;824	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	Y	683;824;825	ENSP00000383428:S683Y;ENSP00000383417:S824Y;ENSP00000262608:S825Y	ENSP00000262608:S825Y	S	+	2	0	CECR2	16402369	0.172000	0.23043	0.790000	0.31976	0.879000	0.50718	2.245000	0.43133	2.756000	0.94617	0.561000	0.74099	TCT	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000316226.2		+	ENST00000400585.2	Missense_Mutation	SNP	22 : 18022369 - 18022369 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	414	17
GAP43	2596	broad.mit.edu	37	3	115395064	115395064	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:115395064G>A	ENST00000393780.3	+	3	811	c.343G>A	c.(343-345)Gag>Aag	p.E115K	GAP43_ENST00000305124.6_Missense_Mutation_p.E79K	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	79					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding	p.E79Q(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		CGATGGGGTGGAGAAGAAGGG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											81	78	79			NA	NA	3		NA											NA				115395064		2203	4300	6503	SO:0001583	missense				CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020	2596	2596			4140	protein-coding gene	gene with protein product	neuron growth-associated protein 43, neuromodulin, nerve growth-related peptide GAP43, axonal membrane protein GAP-43, protein F1, calmodulin-binding protein P-57, neural phosphoprotein B-50	162060			NA	3272162, 8231732	Standard	NM_002045	NM_002045	NA	Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000393780.3:c.343G>A	3.37:g.115395064G>A	ENSP00000377372:p.Glu115Lys	NA		37	CCDS46890.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602679	0.46423	.	.	ENSG00000172020	ENST00000305124;ENST00000393780	T;T	0.60672	0.17;0.17	4.62	4.62	0.57501	Neuromodulin (GAP-43), C-terminal (1);	0.205951	0.42548	D	0.000698	T	0.54481	0.1861	M	0.63843	1.955	0.39176	D	0.962681	B;B	0.31153	0.31;0.065	B;B	0.32465	0.146;0.033	T	0.60667	-0.7218	10	0.52906	T	0.07	-7.7158	11.4995	0.50428	0.0825:0.0:0.9175:0.0	.	115;79	A8K0Y4;P17677	.;NEUM_HUMAN	K	79;115	ENSP00000305010:E79K;ENSP00000377372:E115K	ENSP00000305010:E79K	E	+	1	0	GAP43	116877754	0.987000	0.35691	0.830000	0.32933	0.857000	0.48899	3.281000	0.51685	2.547000	0.85894	0.655000	0.94253	GAG	GAP43-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258217.2		+	ENST00000393780.3	Missense_Mutation	SNP	3 : 115395064 - 115395064 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	398	65
KIF5A	3798	broad.mit.edu	37	12	57968967	57968967	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57968967G>A	ENST00000455537.2	+	16	2091	c.1817G>A	c.(1816-1818)cGg>cAg	p.R606Q	KIF5A_ENST00000286452.5_Missense_Mutation_p.R517Q	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	606					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AAGCGGTGCCGGCAGCTGGAG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	46	49			NA	NA	12		NA											NA				57968967		2203	4300	6503	SO:0001583	missense			U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980	3798	3798		Kinesins	6323	protein-coding gene	gene with protein product		602821	spastic paraplegia 10 (autosomal dominant)	SPG10	NA	9858832, 10441583, 16489470	Standard	NM_004984	NM_004984	NA	Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.1817G>A	12.37:g.57968967G>A	ENSP00000408979:p.Arg606Gln	NA	A6H8M5|Q4LE26	37	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.139318	0.56936	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	D;D	0.85861	-2.04;-2.04	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.78046	0.4222	L	0.38838	1.175	0.49299	D	0.999772	B;B	0.22800	0.075;0.033	B;B	0.14578	0.011;0.011	T	0.72666	-0.4224	10	0.15952	T	0.53	.	16.5549	0.84482	0.0:0.0:1.0:0.0	.	517;606	B7Z2M7;Q12840	.;KIF5A_HUMAN	Q	606;517	ENSP00000408979:R606Q;ENSP00000286452:R517Q	ENSP00000286452:R517Q	R	+	2	0	KIF5A	56255234	0.972000	0.33761	1.000000	0.80357	0.992000	0.81027	1.429000	0.34903	2.504000	0.84457	0.655000	0.94253	CGG	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407634.1		+	ENST00000455537.2	Missense_Mutation	SNP	12 : 57968967 - 57968967 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	134	26
CHRNA2	1135	broad.mit.edu	37	8	27320801	27320801	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27320801C>T	ENST00000520933.2	-	5	1312	c.1159G>A	c.(1159-1161)Gtg>Atg	p.V387M	CHRNA2_ENST00000240132.2_Missense_Mutation_p.V372M|CHRNA2_ENST00000407991.1_Missense_Mutation_p.V387M			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	387						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	CAGAGCTCCACGGGTGGTGGG	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	48	48			NA	NA	8		NA											NA				27320801		2203	4300	6503	SO:0001583	missense			U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903	NA	1135		Cholinergic receptors, Ligand-gated ion channels / Acetylcholine receptors, nicotinic	1956	protein-coding gene	gene with protein product	acetylcholine receptor, nicotinic, alpha 2 (neuronal)	118502	cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)		NA	1505988	Standard		NM_000742	NA	Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.1159G>A	8.37:g.27320801C>T	ENSP00000429616:p.Val387Met	NA	A8KAX3|Q9HAQ3	37	CCDS6059.1	.	.	.	.	.	.	.	.	.	.	A	11.02	1.516690	0.27123	.	.	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000240132	D;D;D	0.85339	-1.97;-1.97;-1.97	5.03	-4.23	0.03789	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.830630	0.02479	N	0.088260	T	0.70237	0.3201	N	0.14661	0.345	0.09310	N	1	B;B	0.21309	0.054;0.006	B;B	0.23419	0.046;0.017	T	0.55774	-0.8088	10	0.39692	T	0.17	.	2.1659	0.03837	0.2773:0.3281:0.2811:0.1135	.	372;387	B4DK19;Q15822	.;ACHA2_HUMAN	M	387;387;372	ENSP00000385026:V387M;ENSP00000429616:V387M;ENSP00000240132:V372M	ENSP00000240132:V372M	V	-	1	0	CHRNA2	27376718	0.000000	0.05858	0.006000	0.13384	0.029000	0.11900	-2.291000	0.01147	-1.026000	0.03330	-0.363000	0.07495	GTG	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376125.4		-	ENST00000520933.2	Missense_Mutation	SNP	8 : 27320801 - 27320801 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	348	66
HHIPL1	84439	broad.mit.edu	37	14	100129317	100129317	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100129317A>C	ENST00000330710.5	+	6	1705	c.1607A>C	c.(1606-1608)aAc>aCc	p.N536T	HHIPL1_ENST00000357223.2_Missense_Mutation_p.N536T	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	536					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CTCATCAACAACTACTACCCG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	95	101			NA	NA	14		NA											NA				100129317		2203	4300	6503	SO:0001583	missense			AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218	84439	84439			19710	protein-coding gene	gene with protein product			KIAA1822	KIAA1822	NA		Standard	XM_041566	NM_032425	NA	Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.1607A>C	14.37:g.100129317A>C	ENSP00000330601:p.Asn536Thr	NA	A2RUF8|B2RN09|Q6UXX2	37	CCDS45162.1	.	.	.	.	.	.	.	.	.	.	A	12.50	1.956543	0.34565	.	.	ENSG00000182218	ENST00000330710;ENST00000357223	T;T	0.13657	5.03;2.57	4.87	4.87	0.63330	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.054883	0.64402	D	0.000001	T	0.07683	0.0193	N	0.04746	-0.17	0.58432	D	0.999992	B;B	0.13145	0.005;0.007	B;B	0.25614	0.062;0.006	T	0.29243	-1.0018	10	0.13470	T	0.59	.	14.5057	0.67750	1.0:0.0:0.0:0.0	.	536;536	Q96JK4;Q96JK4-2	HIPL1_HUMAN;.	T	536	ENSP00000330601:N536T;ENSP00000349757:N536T	ENSP00000330601:N536T	N	+	2	0	HHIPL1	99199070	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.474000	0.81024	1.840000	0.53500	0.533000	0.62120	AAC	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413811.1		+	ENST00000330710.5	Missense_Mutation	SNP	14 : 100129317 - 100129317 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	52
SLC35G3	146861	broad.mit.edu	37	17	33521164	33521164	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33521164C>A	ENST00000297307.5	-	1	248	c.163G>T	c.(163-165)Ggc>Tgc	p.G55C		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	55	DUF6 1.					integral to membrane					NA						GAAAGGGGGCCCACGAAGCCA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	67	66			NA	NA	17		NA											NA				33521164		2203	4296	6499	SO:0001583	missense			AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729	146861	146861		Solute carriers	26848	protein-coding gene	gene with protein product			transmembrane protein 21A, acyl-malonyl condensing enzyme 1	TMEM21A, AMAC1	NA		Standard	NM_152462	NM_152462	NA	Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.163G>T	17.37:g.33521164C>A	ENSP00000297307:p.Gly55Cys	NA	B9EGE9	37	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.543684	0.27563	.	.	ENSG00000164729	ENST00000297307	T	0.53640	0.61	.	.	.	.	0.000000	0.45867	D	0.000338	T	0.47078	0.1426	N	0.24115	0.695	0.33035	D	0.530731	D	0.89917	1.0	D	0.97110	1.0	T	0.55592	-0.8117	9	0.72032	D	0.01	-6.949	5.844	0.18652	0.0:0.9991:0.0:9.0E-4	.	55	Q8N808	S35G3_HUMAN	C	55	ENSP00000297307:G55C	ENSP00000297307:G55C	G	-	1	0	SLC35G3	30545277	1.000000	0.71417	0.402000	0.26371	0.404000	0.30871	1.946000	0.40283	0.064000	0.16427	0.064000	0.15345	GGC	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256445.2		-	ENST00000297307.5	Missense_Mutation	SNP	17 : 33521164 - 33521164 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	667	122
SERPINB7	8710	broad.mit.edu	37	18	61468118	61468118	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61468118G>A	ENST00000398019.2	+	7	941	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	SERPINB7_ENST00000546027.1_Missense_Mutation_p.A206T|SERPINB7_ENST00000540675.1_Missense_Mutation_p.A189T|SERPINB7_ENST00000336429.2_Missense_Mutation_p.A206T	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	206					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GAAGGCAGTCGCCATGATGCA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	144	150			NA	NA	18		NA											NA				61468118		2203	4300	6503	SO:0001583	missense			AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396	8710	8710		Serine (or cysteine) peptidase inhibitors	13902	protein-coding gene	gene with protein product		603357	serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7		NA	24172014	Standard	NM_003784	NM_003784	NA	Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.616G>A	18.37:g.61468118G>A	ENSP00000381101:p.Ala206Thr	NA	Q1ED45|Q3KPG4	37	CCDS11988.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064020	0.36373	.	.	ENSG00000166396	ENST00000336429;ENST00000398019;ENST00000540675;ENST00000546027	T;T;T;T	0.11063	2.81;2.81;2.81;2.81	5.1	-9.16	0.00694	Serpin domain (3);	1.594020	0.03372	N	0.199196	T	0.07954	0.0199	L	0.49513	1.565	0.09310	N	1	B;B	0.22346	0.003;0.068	B;B	0.15484	0.005;0.013	T	0.34800	-0.9814	10	0.72032	D	0.01	.	1.1245	0.01732	0.3147:0.3374:0.1226:0.2253	.	189;206	F5GZC0;O75635	.;SPB7_HUMAN	T	206;206;189;206	ENSP00000337212:A206T;ENSP00000381101:A206T;ENSP00000444572:A189T;ENSP00000444861:A206T	ENSP00000337212:A206T	A	+	1	0	SERPINB7	59619098	0.000000	0.05858	0.001000	0.08648	0.847000	0.48162	-0.302000	0.08221	-1.427000	0.01992	0.650000	0.86243	GCC	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000134007.1		+	ENST00000398019.2	Missense_Mutation	SNP	18 : 61468118 - 61468118 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	693	69
RYR2	6262	broad.mit.edu	37	1	237777341	237777341	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237777341C>T	ENST00000366574.2	+	37	5230	c.4913C>T	c.(4912-4914)tCt>tTt	p.S1638F	RYR2_ENST00000360064.6_Missense_Mutation_p.S1636F|RYR2_ENST00000542537.1_Missense_Mutation_p.S1622F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1638	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTCTACAGATCTGTTGACATC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	45	46			NA	NA	1		NA											NA				237777341		1866	4110	5976	SO:0001583	missense			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626	6262	6262		Ion channels / Ryanodine receptors, EF-hand domain containing	10484	protein-coding gene	gene with protein product		180902	arrhythmogenic right ventricular dysplasia 2	ARVD2	NA	2380170, 8406504, 11159936	Standard	NM_001035	NM_001035	NA	Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4913C>T	1.37:g.237777341C>T	ENSP00000355533:p.Ser1638Phe	NA	Q15411|Q546N8|Q5T3P2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.953784	0.53293	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96913	-4.17;-4.14;-4.17	5.56	5.56	0.83823	.	0.092047	0.44285	D	0.000463	D	0.92606	0.7651	L	0.32530	0.975	0.80722	D	1	P	0.37864	0.61	B	0.31812	0.136	D	0.93184	0.6577	10	0.87932	D	0	.	15.0638	0.71977	0.0:0.8586:0.1414:0.0	.	1638	Q92736	RYR2_HUMAN	F	1638;1636;1622	ENSP00000355533:S1638F;ENSP00000353174:S1636F;ENSP00000443798:S1622F	ENSP00000353174:S1636F	S	+	2	0	RYR2	235843964	0.980000	0.34600	0.993000	0.49108	0.973000	0.67179	2.512000	0.45485	2.613000	0.88420	0.655000	0.94253	TCT	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095402.2		+	ENST00000366574.2	Missense_Mutation	SNP	1 : 237777341 - 237777341 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	217	31
ABCG2	9429	broad.mit.edu	37	4	89020601	89020601	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89020601C>A	ENST00000237612.3	-	12	1913		c.e12-1		ABCG2_ENST00000515655.1_Splice_Site	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	NA					cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	GTATTCATGTCTATAGAACAA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	97	98			NA	NA	4		NA											NA				89020601		2203	4300	6503	SO:0001630	splice_region_variant			AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777	9429	9429		CD molecules, ATP binding cassette transporters / subfamily G	74	protein-coding gene	gene with protein product		603756	ATP-binding cassette, sub-family G (WHITE), member 2		NA	8894702, 9861027	Standard	NM_004827	NM_001257386	NA	Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.1368-1G>T	4.37:g.89020601C>A		NA	A0A1W3|A8K1T5|O95374|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	37	CCDS3628.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126719	0.77549	.	.	ENSG00000118777	ENST00000515655;ENST00000237612	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3173	0.90225	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCG2	89239625	1.000000	0.71417	0.996000	0.52242	0.819000	0.46315	7.467000	0.80930	2.421000	0.82119	0.467000	0.42956	.	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253051.1	Intron	-	ENST00000237612.3	Splice_Site	SNP	4 : 89020601 - 89020601 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	343	61
GNAI3	2773	broad.mit.edu	37	1	110116530	110116530	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110116530G>A	ENST00000369851.4	+	3	284	c.174G>A	c.(172-174)gaG>gaA	p.E58E		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	58					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		TCATTCATGAGGATGGCTATT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	95	96			NA	NA	1		NA											NA				110116530		2203	4300	6503	SO:0001819	synonymous_variant			M27543	CCDS802.1	1p13	2012-10-02			ENSG00000065135	ENSG00000065135	2773	2773			4387	protein-coding gene	gene with protein product		139370			NA	3109953	Standard	NM_006496	NM_006496	NA	Approved	87U6	uc001dxz.3	P08754	OTTHUMG00000011648	ENST00000369851.4:c.174G>A	1.37:g.110116530G>A		NA	P17539	37	CCDS802.1																																																																																			GNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032222.1		+	ENST00000369851.4	Silent	SNP	1 : 110116530 - 110116530 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	279	52
LDB3	11155	broad.mit.edu	37	10	88452318	88452318	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88452318C>T	ENST00000361373.4	+	6	907	c.886C>T	c.(886-888)Cga>Tga	p.R296*	LDB3_ENST00000372066.3_Nonsense_Mutation_p.R249*|LDB3_ENST00000263066.6_Nonsense_Mutation_p.R249*|LDB3_ENST00000458213.2_Nonsense_Mutation_p.R249*|LDB3_ENST00000372056.4_Nonsense_Mutation_p.R364*|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000429277.2_Nonsense_Mutation_p.R364*|LDB3_ENST00000310944.6_Nonsense_Mutation_p.R296*|LDB3_ENST00000542786.1_3'UTR	NM_007078.2	NP_009009.1	O75112	LDB3_HUMAN	LIM domain binding 3	296						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						AGAAGCTCTGCGAAGGTCAAG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	114	121			NA	NA	10		NA											NA				88452318		2203	4300	6503	SO:0001587	stop_gained			AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367	11155	11155			15710	protein-coding gene	gene with protein product	cypher, oracle, Z-band alternatively spliced PDZ motif protein	605906	cardiomyopathy, dilated 1C (autosomal dominant)	CMD1C	NA	10427098, 23271734, 23996002, 14662268	Standard		NM_001080114	NA	Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.886C>T	10.37:g.88452318C>T	ENSP00000355296:p.Arg296*	NA	A2TDB7|A6NIV4|Q5K6N9|Q5K6P0|Q5K6P1|Q96FH2|Q9Y4Z3|Q9Y4Z4|Q9Y4Z5	37	CCDS7377.1	.	.	.	.	.	.	.	.	.	.	C	37	5.985369	0.97173	.	.	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000458213;ENST00000372066;ENST00000263066;ENST00000372056;ENST00000310944;ENST00000361373	.	.	.	5.92	2.8	0.32819	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	13.8726	0.63629	0.6723:0.3277:0.0:0.0	.	.	.	.	X	296;364;249;249;249;364;296;296	.	ENSP00000263066:R249X	R	+	1	2	LDB3	88442298	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	2.550000	0.45811	0.828000	0.34709	0.655000	0.94253	CGA	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049160.2		+	ENST00000361373.4	Nonsense_Mutation	SNP	10 : 88452318 - 88452318 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	567	101
API5	8539	broad.mit.edu	37	11	43345051	43345051	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43345051G>A	ENST00000378852.3	+	6	740	c.615G>A	c.(613-615)caG>caA	p.Q205Q	API5_ENST00000531273.1_Silent_p.Q205Q|API5_ENST00000534600.1_Silent_p.Q205Q|API5_ENST00000534695.1_Intron|API5_ENST00000455725.2_Silent_p.Q194Q|API5_ENST00000420461.2_Silent_p.Q151Q	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	205					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	p.L204_S208delLQTVS(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						AAAGCTTACAGACAGTGAGTG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(1;98 122 5625 20895 49453)							NA				1	Deletion - In frame(1)	prostate(1)											105	102	103			NA	NA	11		NA											NA				43345051		2203	4300	6503	SO:0001819	synonymous_variant			U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181	8539	8539			594	protein-coding gene	gene with protein product	API5-like 1, fibroblast growth factor 2-interacting factor 2, migration-inducing protein MIG8	609774			NA	9307294	Standard	NM_006595	NR_024625	NA	Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000378852.3:c.615G>A	11.37:g.43345051G>A		NA	D3DR21|O15441|Q9Y4J7	37	CCDS31465.1																																																																																			API5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389547.1		+	ENST00000378852.3	Silent	SNP	11 : 43345051 - 43345051 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	569	91
SEC23IP	11196	broad.mit.edu	37	10	121692654	121692654	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121692654G>A	ENST00000369075.3	+	17	2968	c.2896G>A	c.(2896-2898)Gct>Act	p.A966T	SEC23IP_ENST00000475542.1_3'UTR|SEC23IP_ENST00000543134.1_Missense_Mutation_p.A755T	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	966	DDHD.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		ATACCTTTTCGCTCTTCAGAG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	123	124			NA	NA	10		NA											NA				121692654		2203	4300	6503	SO:0001583	missense			AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651	11196	11196		Sterile alpha motif (SAM) domain containing	17018	protein-coding gene	gene with protein product					NA	10400679	Standard		NM_007190	NA	Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.2896G>A	10.37:g.121692654G>A	ENSP00000358071:p.Ala966Thr	NA	D3DRD2|Q8IXH5|Q9BUK5	37	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927052	0.92389	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.41758	0.99;1.08	5.28	5.28	0.74379	DDHD (2);	0.000000	0.85682	D	0.000000	T	0.66674	0.2813	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.67707	-0.5601	10	0.52906	T	0.07	-21.8137	19.2611	0.93968	0.0:0.0:1.0:0.0	.	755;966	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	T	966;755	ENSP00000358071:A966T;ENSP00000438773:A755T	ENSP00000358071:A966T	A	+	1	0	SEC23IP	121682644	1.000000	0.71417	0.997000	0.53966	0.841000	0.47740	9.420000	0.97426	2.625000	0.88918	0.655000	0.94253	GCT	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050688.1		+	ENST00000369075.3	Missense_Mutation	SNP	10 : 121692654 - 121692654 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	464	83
NFASC	23114	broad.mit.edu	37	1	204948557	204948557	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204948557C>T	ENST00000401399.1	+	18	2245	c.2046C>T	c.(2044-2046)ccC>ccT	p.P682P	NFASC_ENST00000404907.1_Silent_p.P678P|NFASC_ENST00000338515.6_Silent_p.P682P|NFASC_ENST00000367172.4_Silent_p.P682P|NFASC_ENST00000339876.6_Silent_p.P682P|NFASC_ENST00000367171.4_Silent_p.P667P|NFASC_ENST00000513543.1_Silent_p.P678P|NFASC_ENST00000338586.6_Silent_p.P682P|NFASC_ENST00000360049.4_Silent_p.P678P|NFASC_ENST00000539706.1_Silent_p.P678P|NFASC_ENST00000404076.1_Silent_p.P661P|NFASC_ENST00000367170.4_Silent_p.P682P|NFASC_ENST00000367169.4_Silent_p.P682P			O94856	NFASC_HUMAN	neurofascin	682	Fibronectin type-III 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.P678P(3)|p.P682P(3)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCAAGTACCCCGGCAGCGTTA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				6	Substitution - coding silent(6)	lung(4)|endometrium(2)											105	103	103			NA	NA	1		NA											NA				204948557		2203	4300	6503	SO:0001819	synonymous_variant			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531	23114	23114		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	29866	protein-coding gene	gene with protein product		609145	neurofascin homolog (chicken)		NA	1377696, 8672144	Standard	NM_001005388	NM_015090	NA	Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.2046C>T	1.37:g.204948557C>T		NA	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	37	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	C	1.163	-0.643289	0.03531	.	.	ENSG00000163531	ENST00000367173	T	0.60040	0.22	5.43	0.461	0.16689	.	0.382752	0.22265	N	0.062346	T	0.53286	0.1787	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51411	-0.8709	7	0.87932	D	0	.	0.7637	0.01011	0.4593:0.1208:0.2102:0.2096	.	.	.	.	L	652	ENSP00000356141:P652L	ENSP00000356141:P652L	P	+	2	0	NFASC	203215180	0.000000	0.05858	0.984000	0.44739	0.013000	0.08279	-2.110000	0.01334	-0.168000	0.10853	-1.193000	0.01689	CCG	NFASC-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131237.1		+	ENST00000401399.1	Silent	SNP	1 : 204948557 - 204948557 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	807	146
AXL	558	broad.mit.edu	37	19	41748838	41748838	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41748838C>A	ENST00000301178.4	+	11	1553	c.1363C>A	c.(1363-1365)Cta>Ata	p.L455I	AXL_ENST00000359092.3_Missense_Mutation_p.L446I|AXL_ENST00000593513.1_Missense_Mutation_p.L187I	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	455						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GTATGTACTGCTAGGAGCAGT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	116	126			NA	NA	19		NA											NA				41748838		2203	4300	6503	SO:0001583	missense			M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	558	558	2.7.10.1	Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	905	protein-coding gene	gene with protein product		109135			NA	1656220	Standard		NM_021913	NA	Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.1363C>A	19.37:g.41748838C>A	ENSP00000301178:p.Leu455Ile	NA	Q8N5L2|Q9UD27	37	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	c	13.59	2.283015	0.40394	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.75154	-0.91;-0.83	4.49	3.45	0.39498	.	0.074392	0.56097	D	0.000040	T	0.62183	0.2407	L	0.55990	1.75	0.35301	D	0.783036	P;P	0.38395	0.629;0.495	B;B	0.32805	0.153;0.073	T	0.65084	-0.6254	10	0.25751	T	0.34	-12.7963	7.5165	0.27604	0.1645:0.7444:0.0:0.0912	.	446;455	P30530-2;P30530	.;UFO_HUMAN	I	455;446	ENSP00000301178:L455I;ENSP00000351995:L446I	ENSP00000301178:L455I	L	+	1	2	AXL	46440678	0.995000	0.38212	1.000000	0.80357	0.884000	0.51177	1.972000	0.40540	0.995000	0.38917	0.650000	0.86243	CTA	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463323.2		+	ENST00000301178.4	Missense_Mutation	SNP	19 : 41748838 - 41748838 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	547	105
OPCML	4978	broad.mit.edu	37	11	132812820	132812820	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:132812820C>T	ENST00000331898.7	-	1	746		c.e1+1		OPCML_ENST00000541867.1_Splice_Site|OPCML_ENST00000374778.4_Splice_Site|OPCML_ENST00000529038.1_Intron|OPCML_ENST00000524381.1_Splice_Site	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	NA					cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CAGCTCCCTACCTGAGGGTGG	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	67	66			NA	NA	11		NA											NA				132812820		2201	4297	6498	SO:0001630	splice_region_variant			BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715	4978	4978		Immunoglobulin superfamily / I-set domain containing	8143	protein-coding gene	gene with protein product	IgLON family member 1	600632	opioid-binding protein/cell adhesion molecule-like		NA	8244387	Standard	NM_001012393	XM_005271578	NA	Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.167+1G>A	11.37:g.132812820C>T		NA	Q17RN7	37	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.659011	0.88154	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8557	0.96758	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	OPCML	132318030	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.398000	0.79919	2.707000	0.92482	0.655000	0.94253	.	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374689.3	Intron	-	ENST00000331898.7	Splice_Site	SNP	11 : 132812820 - 132812820 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	576	78
GTSE1	51512	broad.mit.edu	37	22	46712143	46712143	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46712143G>T	ENST00000454366.1	+	7	1478	c.1266G>T	c.(1264-1266)caG>caT	p.Q422H		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	403					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CCCAACCCCAGACTCCGGAAG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(153;542 1915 12487 29016 50495)							NA				0													33	40	38			NA	NA	22		NA											NA				46712143		2201	4299	6500	SO:0001583	missense			AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218	51512	51512			13698	protein-coding gene	gene with protein product		607477			NA	10974554, 10984615, 12750368	Standard	NM_016426	NM_016426	NA	Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.1266G>T	22.37:g.46712143G>T	ENSP00000415430:p.Gln422His	NA	B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	37	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	G	8.536	0.872121	0.17322	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.07688	3.17	4.61	3.58	0.41010	.	1.240630	0.05179	N	0.501016	T	0.10252	0.0251	L	0.34521	1.04	0.32355	N	0.558	B;B	0.28208	0.056;0.203	B;B	0.26864	0.029;0.074	T	0.21655	-1.0239	10	0.42905	T	0.14	-0.368	13.7669	0.63002	0.0:0.1554:0.8446:0.0	.	403;382	Q9NYZ3;B4DZT6	GTSE1_HUMAN;.	H	422;382	ENSP00000415430:Q422H	ENSP00000354634:Q382H	Q	+	3	2	GTSE1	45090807	0.396000	0.25262	0.114000	0.21550	0.331000	0.28603	1.576000	0.36504	1.281000	0.44480	-0.181000	0.13052	CAG	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318360.2		+	ENST00000454366.1	Missense_Mutation	SNP	22 : 46712143 - 46712143 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	521	75
APOL2	23780	broad.mit.edu	37	22	36624001	36624001	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36624001G>T	ENST00000249066.6	-	6	939	c.463C>A	c.(463-465)Ctg>Atg	p.L155M	APOL2_ENST00000358502.5_Missense_Mutation_p.L155M|APOL2_ENST00000451256.2_Missense_Mutation_p.L267M	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	155					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						GCTGCTCCCAGACCCATGCCA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	50	48			NA	NA	22		NA											NA				36624001		2180	4271	6451	SO:0001583	missense			AF324224	CCDS43014.1	22q12.3	2013-09-20			ENSG00000128335	ENSG00000128335	23780	23780		Apolipoproteins	619	protein-coding gene	gene with protein product	apolipoprotein L-II	607252			NA	10591208, 11374903	Standard	NM_145637	NM_145637	NA	Approved	APOL-II	uc003apa.3	Q9BQE5	OTTHUMG00000150634	ENST00000249066.6:c.463C>A	22.37:g.36624001G>T	ENSP00000249066:p.Leu155Met	NA	B0QYK7|O95915|Q59GW9|Q5TH96|Q969T6|Q9BT28|Q9UGT1|Q9UH10	37	CCDS43014.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.340718	0.24339	.	.	ENSG00000128335	ENST00000358502;ENST00000249066;ENST00000451256	T;T;T	0.08807	3.05;3.05;3.05	3.66	-0.134	0.13481	.	0.149389	0.44688	D	0.000421	T	0.09992	0.0245	M	0.77486	2.375	0.09310	N	1	P;P	0.36412	0.463;0.552	B;B	0.38428	0.212;0.273	T	0.13072	-1.0523	10	0.54805	T	0.06	.	3.0361	0.06122	0.2466:0.0:0.5428:0.2106	.	267;155	B4E1T5;Q9BQE5	.;APOL2_HUMAN	M	155;155;267	ENSP00000351292:L155M;ENSP00000249066:L155M;ENSP00000403153:L267M	ENSP00000249066:L155M	L	-	1	2	APOL2	34953947	0.003000	0.15002	0.002000	0.10522	0.001000	0.01503	-0.260000	0.08708	0.318000	0.23185	0.411000	0.27672	CTG	APOL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319279.1		-	ENST00000249066.6	Missense_Mutation	SNP	22 : 36624001 - 36624001 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	16
MYCBP2	23077	broad.mit.edu	37	13	77699592	77699592	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77699592A>G	ENST00000544440.2	-	54	7799	c.7782T>C	c.(7780-7782)tcT>tcC	p.S2594S	MYCBP2_ENST00000360084.5_Silent_p.S57S|MYCBP2_ENST00000407578.2_Silent_p.S2632S|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000357337.6_Silent_p.S2594S			O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2594					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATGTCCCTTCAGAATTGGTTA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													262	221	235			NA	NA	13		NA											NA				77699592		2203	4300	6503	SO:0001819	synonymous_variant			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810	23077	23077			23386	protein-coding gene	gene with protein product		610392	MYC binding protein 2		NA	9689053, 15057823	Standard	NM_015057	NM_015057	NA	Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.7782T>C	13.37:g.77699592A>G		NA	A6NJC6|Q5JSX8|Q5VZN6|Q6PIB6|Q9UQ11|Q9Y6E4	37																																																																																				MYCBP2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000045326.1		-	ENST00000544440.2	Silent	SNP	13 : 77699592 - 77699592 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	978	198
CCT7	10574	broad.mit.edu	37	2	73476192	73476192	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73476192C>T	ENST00000258091.5	+	8	998	c.857C>T	c.(856-858)gCc>gTc	p.A286V	CCT7_ENST00000540468.1_Missense_Mutation_p.A199V|CCT7_ENST00000398422.2_Missense_Mutation_p.A82V|CCT7_ENST00000539919.1_Missense_Mutation_p.A242V|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000537131.1_Missense_Mutation_p.A186V|CCT7_ENST00000538797.1_Missense_Mutation_p.A158V	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	286					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						CATTCTGGAGCCAAAGTTGTC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	101	102			NA	NA	2		NA											NA				73476192		1945	4140	6085	SO:0001583	missense			AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624	10574	10574		Heat Shock Proteins / Chaperonins	1622	protein-coding gene	gene with protein product		605140			NA	9819444	Standard		NM_006429	NA	Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.857C>T	2.37:g.73476192C>T	ENSP00000258091:p.Ala286Val	NA	A8K7E6|B7WNW9|O14871|Q6FI26	37	CCDS46336.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514495	0.85389	.	.	ENSG00000135624	ENST00000540468;ENST00000539919;ENST00000258091;ENST00000398422;ENST00000537131;ENST00000538797;ENST00000409081	T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.85974	0.5822	M	0.71920	2.185	0.80722	D	1	P;D;P;D;B;D	0.61697	0.495;0.971;0.845;0.99;0.02;0.963	B;P;B;P;B;P	0.62014	0.209;0.668;0.399;0.897;0.046;0.809	D	0.86972	0.2098	10	0.59425	D	0.04	-18.3614	16.9294	0.86186	0.0:1.0:0.0:0.0	.	199;158;186;244;82;286	B7Z4Z7;B7Z1C9;F5GZK5;B8ZZC9;A8MWI8;Q99832	.;.;.;.;.;TCPH_HUMAN	V	199;242;286;82;186;158;244	ENSP00000442058:A199V;ENSP00000437824:A242V;ENSP00000258091:A286V;ENSP00000381456:A82V;ENSP00000444379:A186V;ENSP00000438462:A158V	ENSP00000258091:A286V	A	+	2	0	CCT7	73329700	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.599000	0.82757	2.671000	0.90904	0.455000	0.32223	GCC	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327714.2		+	ENST00000258091.5	Missense_Mutation	SNP	2 : 73476192 - 73476192 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	276	10
FMN2	56776	broad.mit.edu	37	1	240370368	240370368	+	Silent	SNP	C	C	T	rs140392779		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240370368C>T	ENST00000319653.9	+	5	2486	c.2256C>T	c.(2254-2256)ggC>ggT	p.G752G		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	752					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.G895G(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGGAAGAGGGCGGGGTGCTGA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)						T		0,4406		0,0,2203	44	42	43		2256	-7.8	0	1	dbSNP_134	43	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	FMN2	NM_020066.4		0,3,6500	TT,TC,CC	NA	0.0349,0.0,0.0231		752/1723	240370368	3,13003	2203	4300	6503	SO:0001819	synonymous_variant			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816	56776	56776			14074	protein-coding gene	gene with protein product		606373			NA	10781961	Standard	XM_371352	NM_020066	NA	Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2256C>T	1.37:g.240370368C>T		NA	B0QZA7|Q59GF6|Q5VU37|Q9NZ55	37	CCDS31069.2																																																																																			FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096217.2		+	ENST00000319653.9	Silent	SNP	1 : 240370368 - 240370368 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	241	36
C16orf59	80178	broad.mit.edu	37	16	2510961	2510961	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2510961C>A	ENST00000569496.1	+	4	400	c.341C>A	c.(340-342)tCt>tAt	p.S114Y	C16orf59_ENST00000563531.1_Missense_Mutation_p.S114Y|C16orf59_ENST00000483320.1_5'UTR|C16orf59_ENST00000361837.4_Missense_Mutation_p.S114Y			Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	114										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				ATTGTCACCTCTTCTGGCACG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	77	74			NA	NA	16		NA											NA				2510961		2075	4206	6281	SO:0001583	missense			AK023971	CCDS10468.2	16p13.3	2008-10-30			ENSG00000162062	ENSG00000162062	80178	80178			25849	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_025108	XM_006720955	NA	Approved	FLJ13909	uc002cqh.3	Q7L2K0	OTTHUMG00000128859	ENST00000569496.1:c.341C>A	16.37:g.2510961C>A	ENSP00000454787:p.Ser114Tyr	NA	B4DXD7|Q96H61|Q9H872	37		.	.	.	.	.	.	.	.	.	.	C	11.71	1.720521	0.30503	.	.	ENSG00000162062	ENST00000361837	T	0.50813	0.73	3.12	2.13	0.27403	.	.	.	.	.	T	0.43366	0.1244	L	0.36672	1.1	0.18873	N	0.999989	P	0.47191	0.891	P	0.48227	0.571	T	0.23868	-1.0176	9	0.62326	D	0.03	-0.2078	8.1298	0.31020	0.0:0.7507:0.2493:0.0	.	114	Q7L2K0	CP059_HUMAN	Y	114	ENSP00000355022:S114Y	ENSP00000355022:S114Y	S	+	2	0	C16orf59	2450962	0.001000	0.12720	0.000000	0.03702	0.014000	0.08584	1.034000	0.30204	0.609000	0.30018	0.655000	0.94253	TCT	C16orf59-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000435625.1		+	ENST00000569496.1	Missense_Mutation	SNP	16 : 2510961 - 2510961 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	421	89
NLRC5	84166	broad.mit.edu	37	16	57060576	57060576	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57060576G>A	ENST00000262510.6	+	6	1946	c.1721G>A	c.(1720-1722)cGc>cAc	p.R574H	NLRC5_ENST00000308149.7_Missense_Mutation_p.R574H|NLRC5_ENST00000436936.1_Missense_Mutation_p.R574H|NLRC5_ENST00000539144.1_Missense_Mutation_p.R574H	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	574					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TGCACCTGCCGCCCCTTCCTT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	1,4395	2.1+/-5.4	0,1,2197	59	54	56		1721	-3.6	0	16		56	0,8600		0,0,4300	no	missense	NLRC5	NM_032206.3	29	0,1,6497	AA,AG,GG	NA	0.0,0.0227,0.0077	benign	574/1867	57060576	1,12995	2198	4300	6498	SO:0001583	missense			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853	84166	84166		Nucleotide-binding domain and leucine rich repeat containing	29933	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5, NOD-like receptor C5	613537			NA	12615073	Standard	NM_032206	NM_032206	NA	Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.1721G>A	16.37:g.57060576G>A	ENSP00000262510:p.Arg574His	NA	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	37	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	G	4.533	0.098957	0.08681	2.27E-4	0.0	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110	D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05	5.36	-3.61	0.04556	.	1.014940	0.07930	N	0.977276	T	0.74152	0.3679	L	0.39566	1.225	0.09310	N	1	B;B;B;B	0.23316	0.083;0.067;0.012;0.007	B;B;B;B	0.16289	0.01;0.015;0.009;0.006	T	0.58165	-0.7684	10	0.39692	T	0.17	.	5.0745	0.14625	0.4379:0.0:0.3413:0.2208	.	574;574;574;574	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.;.;.;NLRC5_HUMAN	H	574;574;574;48;574;81	ENSP00000262510:R574H;ENSP00000308886:R574H;ENSP00000389739:R574H;ENSP00000441727:R574H;ENSP00000441597:R81H	ENSP00000262510:R574H	R	+	2	0	NLRC5	55618077	0.000000	0.05858	0.030000	0.17652	0.031000	0.12232	0.137000	0.15995	-0.473000	0.06871	-0.310000	0.09108	CGC	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257346.1		+	ENST00000262510.6	Missense_Mutation	SNP	16 : 57060576 - 57060576 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	466	41
RPL4	6124	broad.mit.edu	37	15	66794186	66794186	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66794186C>A	ENST00000568588.1	-	6	981	c.204G>T	c.(202-204)aaG>aaT	p.K68N	RPL4_ENST00000307961.6_Missense_Mutation_p.K162N			P36578	RL4_HUMAN	ribosomal protein L4	162					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						CCTTGGTCTTCTTGTAGCCTT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	86	87			NA	NA	15		NA											NA				66794186		2201	4299	6500	SO:0001583	missense			AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444	6124	6124		L ribosomal proteins	10353	protein-coding gene	gene with protein product	60S ribosomal protein L4	180479			NA	9582194, 8268230	Standard	NM_000968	NM_000968	NA	Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000568588.1:c.204G>T	15.37:g.66794186C>A	ENSP00000454281:p.Lys68Asn	NA	A8K502|P39029|Q4VBR0|Q969Z9	37		.	.	.	.	.	.	.	.	.	.	C	15.07	2.725205	0.48833	.	.	ENSG00000174444	ENST00000307961;ENST00000432669	.	.	.	5.1	5.1	0.69264	Ribosomal protein L4 domain (2);	0.000000	0.85682	D	0.000000	T	0.55721	0.1938	L	0.42744	1.35	0.80722	D	1	B;B	0.27351	0.017;0.176	B;B	0.32864	0.056;0.154	T	0.52396	-0.8581	9	0.32370	T	0.25	-19.9368	13.0628	0.59015	0.0:0.9239:0.0:0.0761	.	162;162	B4DFI6;P36578	.;RL4_HUMAN	N	162	.	ENSP00000311430:K162N	K	-	3	2	RPL4	64581240	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.025000	0.49681	2.652000	0.90054	0.655000	0.94253	AAG	RPL4-020	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000420737.1		-	ENST00000568588.1	Missense_Mutation	SNP	15 : 66794186 - 66794186 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	248	21
SLC13A1	6561	broad.mit.edu	37	7	122763231	122763231	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122763231C>T	ENST00000194130.2	-	12	1338	c.1299G>A	c.(1297-1299)tgG>tgA	p.W433*	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	433						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TGGCTATATCCCAGGGCATGA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	137	137			NA	NA	7		NA											NA				122763231		2203	4300	6503	SO:0001587	stop_gained				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800	6561	6561		Solute carriers	10916	protein-coding gene	gene with protein product		606193	solute carrier family 13 (sodium/sulphate symporters), member 1		NA	11161786	Standard	NM_022444	NM_022444	NA	Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1299G>A	7.37:g.122763231C>T	ENSP00000194130:p.Trp433*	NA	Q9H5Z0	37	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	C	37	6.582130	0.97680	.	.	ENSG00000081800	ENST00000194130	.	.	.	5.77	5.77	0.91146	.	0.118903	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9828	0.92761	0.0:1.0:0.0:0.0	.	.	.	.	X	433	.	ENSP00000194130:W433X	W	-	3	0	SLC13A1	122550467	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.251000	0.78297	2.728000	0.93425	0.591000	0.81541	TGG	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347404.1		-	ENST00000194130.2	Nonsense_Mutation	SNP	7 : 122763231 - 122763231 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	440	74
PRF1	5551	broad.mit.edu	37	10	72357840	72357840	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:72357840G>A	ENST00000441259.1	-	3	1797	c.1637C>T	c.(1636-1638)cCt>cTt	p.P546L	PRF1_ENST00000373209.2_Missense_Mutation_p.P546L	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	546					apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GTTTCCTGGAGGCTCCCCCAG	0.582		NA	M			various leukaemia, lymphoma	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec			10	10q22	5551	perforin 1 (pore forming protein)		L	0			GRCh37	CD040316	PRF1	D							53	55	54			NA	NA	10		NA											NA				72357840		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644	5551	5551			9360	protein-coding gene	gene with protein product	Perforin, perforin 1 (preforming protein)	170280			NA	1505959, 2592021	Standard	NM_005041	NM_005041	NA	Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.1637C>T	10.37:g.72357840G>A	ENSP00000398568:p.Pro546Leu	NA	B2R6X4|Q59F57|Q86WX7	37	CCDS7305.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.901039	0.33535	.	.	ENSG00000180644	ENST00000373209;ENST00000441259;ENST00000318971	D;D	0.91295	-2.82;-2.82	5.97	3.14	0.36123	.	0.273424	0.37012	N	0.002299	D	0.87099	0.6093	M	0.66378	2.025	0.40045	D	0.975705	B	0.16603	0.018	B	0.09377	0.004	T	0.79890	-0.1612	10	0.32370	T	0.25	-9.7627	8.3575	0.32340	0.2439:0.0:0.7561:0.0	.	546	P14222	PERF_HUMAN	L	546	ENSP00000362305:P546L;ENSP00000398568:P546L	ENSP00000316746:P546L	P	-	2	0	PRF1	72027846	0.691000	0.27709	0.695000	0.30226	0.527000	0.34593	1.124000	0.31320	0.426000	0.26116	-0.140000	0.14226	CCT	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048517.2		-	ENST00000441259.1	Missense_Mutation	SNP	10 : 72357840 - 72357840 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	336	66
DEF8	54849	broad.mit.edu	37	16	90027341	90027341	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90027341T>C	ENST00000563594.1	+	7	1514	c.517T>C	c.(517-519)Tgt>Cgt	p.C173R	DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000569453.1_Missense_Mutation_p.C173R|DEF8_ENST00000567874.1_Missense_Mutation_p.C113R|DEF8_ENST00000268676.7_Missense_Mutation_p.C234R|DEF8_ENST00000563795.1_Missense_Mutation_p.C173R|DEF8_ENST00000570182.1_Missense_Mutation_p.C163R	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	234					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CACCCTAGGGTGTTATTACCG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	134	141			NA	NA	16		NA											NA				90027341		2198	4300	6498	SO:0001583	missense			AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995	54849	54849			25969	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_207514	NM_207514	NA	Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000563594.1:c.517T>C	16.37:g.90027341T>C	ENSP00000458019:p.Cys173Arg	NA	B3KT65|B4DK62|B4E0S9|B7Z3H6|Q8N8N3|Q9NXL0	37	CCDS58493.1	.	.	.	.	.	.	.	.	.	.	T	14.22	2.470659	0.43942	.	.	ENSG00000140995	ENST00000268676	D	0.99876	-7.41	3.82	3.82	0.43975	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.138480	0.51477	D	0.000081	D	0.99876	0.9941	M	0.93720	3.45	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.995;0.995;0.996	D	0.96365	0.9269	10	0.87932	D	0	-25.1315	12.6876	0.56956	0.0:0.0:0.0:1.0	.	173;163;234	Q6ZN54-5;Q6ZN54-3;Q6ZN54	.;.;DEFI8_HUMAN	R	234	ENSP00000268676:C234R	ENSP00000268676:C234R	C	+	1	0	DEF8	88554842	1.000000	0.71417	0.789000	0.31954	0.172000	0.22775	7.164000	0.77533	1.721000	0.51461	0.379000	0.24179	TGT	DEF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421870.1		+	ENST00000563594.1	Missense_Mutation	SNP	16 : 90027341 - 90027341 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	673	222
SLC52A2	79581	broad.mit.edu	37	8	145583671	145583671	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145583671G>A	ENST00000526752.1	+	1	241				SLC52A2_ENST00000527078.1_Silent_p.P173P|SLC52A2_ENST00000532887.1_Silent_p.P173P|SLC52A2_ENST00000540505.1_Silent_p.P85P|SLC52A2_ENST00000329994.2_Silent_p.P173P|SLC52A2_ENST00000530047.1_Silent_p.P173P|SLC52A2_ENST00000402965.1_Silent_p.P173P			Q9HAB3	RFT3_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	NA						integral to plasma membrane	receptor activity|riboflavin transporter activity				NA						TCGAGTGCCCGCCAGCCCCCA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	62	59			NA	NA	8		NA											NA				145583671		2203	4299	6502	SO:0001627	intron_variant			AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803	79581	79581		Solute carriers	30224	protein-coding gene	gene with protein product		607882	G protein-coupled receptor 172A	GPR172A	NA	12740431	Standard	NM_024531	NM_024531	NA	Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000526752.1:c.130+588G>A	8.37:g.145583671G>A		NA	A8K6B6|D3DWL8|Q86UT1	37																																																																																				SLC52A2-012	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000382410.1		+	ENST00000526752.1	Intron	SNP	8 : 145583671 - 145583671 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	583	161
SLC12A2	6558	broad.mit.edu	37	5	127497402	127497402	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127497402T>C	ENST00000262461.2	+	17	2715	c.2526T>C	c.(2524-2526)taT>taC	p.Y842Y	SLC12A2_ENST00000343225.4_Silent_p.Y842Y	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	842					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	AAGCCAAATATCAGCGATGGC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	57	59			NA	NA	5		NA											NA				127497402		2203	4299	6502	SO:0001819	synonymous_variant				CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651	6558	6558		Solute carriers	10911	protein-coding gene	gene with protein product	bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1, basolateral Na-K-Cl symporter, protein phosphatase 1, regulatory subunit 141	600840			NA	7629105	Standard	NM_001046	NM_001256461	NA	Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.2526T>C	5.37:g.127497402T>C		NA	Q8N713|Q8WWH7	37	CCDS4144.1																																																																																			SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250972.1		+	ENST00000262461.2	Silent	SNP	5 : 127497402 - 127497402 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	61	13
PLEC	5339	broad.mit.edu	37	8	144994963	144994963	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144994963T>C	ENST00000322810.4	-	32	9606	c.9437A>G	c.(9436-9438)gAc>gGc	p.D3146G	PLEC_ENST00000436759.2_Missense_Mutation_p.D3036G|PLEC_ENST00000527096.1_Missense_Mutation_p.D3032G|PLEC_ENST00000354589.3_Missense_Mutation_p.D3009G|PLEC_ENST00000345136.3_Missense_Mutation_p.D3009G|PLEC_ENST00000356346.3_Missense_Mutation_p.D2995G|PLEC_ENST00000357649.2_Missense_Mutation_p.D3013G|PLEC_ENST00000398774.2_Missense_Mutation_p.D2977G|PLEC_ENST00000354958.2_Missense_Mutation_p.D2987G	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3146	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTCGGCTACGTCTCGCACAGA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	28	27			NA	NA	8		NA											NA				144994963		2064	4173	6237	SO:0001583	missense			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209	5339	5339			9069	protein-coding gene	gene with protein product		601282	plectin 1, intermediate filament binding protein, 500kD, epidermolysis bullosa simplex 1 (Ogna), plectin 1, intermediate filament binding protein 500kDa	EBS1, PLEC1	NA	8633055, 8696340	Standard	NM_000445	XM_005250976	NA	Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.9437A>G	8.37:g.144994963T>C	ENSP00000323856:p.Asp3146Gly	NA	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	T	6.597	0.478516	0.12521	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	4.6	4.6	0.57074	.	0.083430	0.46145	U	0.000302	T	0.64294	0.2585	M	0.67953	2.075	0.29047	N	0.884764	B;B;B;B;B;B;B;B	0.19817	0.039;0.039;0.039;0.023;0.039;0.039;0.039;0.039	B;B;B;B;B;B;B;B	0.22152	0.031;0.038;0.038;0.014;0.038;0.031;0.031;0.031	T	0.60141	-0.7321	10	0.33940	T	0.23	.	13.2525	0.60060	0.0:0.0:0.0:1.0	.	3036;2995;2987;3146;2977;3009;3013;3009	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	G	3009;3013;3009;2977;3146;2987;2995;3036;3032	ENSP00000344848:D3009G;ENSP00000350277:D3013G;ENSP00000346602:D3009G;ENSP00000381756:D2977G;ENSP00000323856:D3146G;ENSP00000347044:D2987G;ENSP00000348702:D2995G;ENSP00000388180:D3036G;ENSP00000434583:D3032G	ENSP00000323856:D3146G	D	-	2	0	PLEC	145066951	1.000000	0.71417	0.337000	0.25536	0.168000	0.22595	4.699000	0.61796	1.852000	0.53769	0.368000	0.22195	GAC	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383281.1		-	ENST00000322810.4	Missense_Mutation	SNP	8 : 144994963 - 144994963 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	383	70
SBNO2	22904	broad.mit.edu	37	19	1112481	1112481	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1112481C>T	ENST00000587024.1	-	21	2615	c.2405G>A	c.(2404-2406)cGc>cAc	p.R802H	SBNO2_ENST00000438103.2_Missense_Mutation_p.R755H|SBNO2_ENST00000361757.3_Missense_Mutation_p.R812H			Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	812					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGACACGGCGGTCGGCTTG	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	19	17			NA	NA	19		NA											NA				1112481		2012	4139	6151	SO:0001583	missense			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932	22904	22904			29158	protein-coding gene	gene with protein product		615729	KIAA0963	KIAA0963	NA	10231032	Standard	NM_014963	NM_014963	NA	Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000587024.1:c.2405G>A	19.37:g.1112481C>T	ENSP00000468520:p.Arg802His	NA	A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	37		.	.	.	.	.	.	.	.	.	.	C	26.8	4.777001	0.90195	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	T;T	0.76316	-1.01;-1.01	4.89	4.89	0.63831	.	0.060647	0.64402	D	0.000003	D	0.88325	0.6406	M	0.89095	3.005	0.31949	N	0.609907	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.976	D	0.89777	0.3958	10	0.56958	D	0.05	-25.5626	10.6635	0.45717	0.0:0.9113:0.0:0.0887	.	812;755	Q9Y2G9;Q9Y2G9-3	SBNO2_HUMAN;.	H	812;755;819	ENSP00000354733:R812H;ENSP00000400762:R755H	ENSP00000250872:R819H	R	-	2	0	SBNO2	1063481	0.999000	0.42202	0.901000	0.35422	0.840000	0.47671	3.834000	0.55798	2.265000	0.75225	0.448000	0.29417	CGC	SBNO2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000458060.1		-	ENST00000587024.1	Missense_Mutation	SNP	19 : 1112481 - 1112481 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	111	19
WFIKKN2	124857	broad.mit.edu	37	17	48917794	48917794	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48917794C>T	ENST00000311378.4	+	2	1673	c.1145C>T	c.(1144-1146)cCg>cTg	p.P382L	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.P289L	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	382						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			ATGAGCGGGCCGCTGGCCGCG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0									LEU/PRO	0,4406		0,0,2203	42	40	41		1145	5.1	0.9	17		41	1,8595	1.2+/-3.3	0,1,4297	no	missense	WFIKKN2	NM_175575.5	98	0,1,6500	TT,TC,CC	NA	0.0116,0.0,0.0077	benign	382/577	48917794	1,13001	2203	4298	6501	SO:0001583	missense			AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714	124857	124857		Immunoglobulin superfamily / I-set domain containing, WAP four-disulfide core domain containing	30916	protein-coding gene	gene with protein product	WAP four-disulfide core domain 20B	610895			NA	11928817, 12709070	Standard	NM_175575	NM_175575	NA	Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.1145C>T	17.37:g.48917794C>T	ENSP00000311184:p.Pro382Leu	NA	Q6UXZ9	37	CCDS11575.1	.	.	.	.	.	.	.	.	.	.	c	14.06	2.421460	0.42918	0.0	1.16E-4	ENSG00000173714	ENST00000426127;ENST00000311378;ENST00000393226	D;D	0.82619	-1.63;-1.61	5.12	5.12	0.69794	Proteinase inhibitor I2, Kunitz metazoa (1);	0.121420	0.64402	D	0.000019	T	0.77287	0.4108	L	0.35723	1.085	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.71155	-0.4675	10	0.25106	T	0.35	.	18.5566	0.91088	0.0:1.0:0.0:0.0	.	382	Q8TEU8	WFKN2_HUMAN	L	289;382;88	ENSP00000405889:P289L;ENSP00000311184:P382L	ENSP00000311184:P382L	P	+	2	0	WFIKKN2	46272793	0.998000	0.40836	0.893000	0.35052	0.976000	0.68499	6.007000	0.70731	2.361000	0.80049	0.556000	0.70494	CCG	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368358.1		+	ENST00000311378.4	Missense_Mutation	SNP	17 : 48917794 - 48917794 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	439	63
FMNL3	91010	broad.mit.edu	37	12	50042916	50042916	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50042916C>T	ENST00000335154.5	-	21	2644	c.2411G>A	c.(2410-2412)cGg>cAg	p.R804Q	FMNL3_ENST00000352151.5_Missense_Mutation_p.R753Q|FMNL3_ENST00000550488.1_Missense_Mutation_p.R804Q|FMNL3_ENST00000293590.5_Missense_Mutation_p.R804Q	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	804	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TGTCATCTTCCGGTCAGTGGA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	140	137			NA	NA	12		NA											NA				50042916		2096	4228	6324	SO:0001583	missense			AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10					91010	91010			23698	protein-coding gene	gene with protein product					NA	12684686	Standard	NM_175736	NM_198900	NA	Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000335154.5:c.2411G>A	12.37:g.50042916C>T	ENSP00000335655:p.Arg804Gln	NA	B0JZA7|Q6ZRJ1	37	CCDS44874.1	.	.	.	.	.	.	.	.	.	.	C	36	5.679679	0.96774	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.44	5.44	0.79542	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.74604	0.3738	L	0.54863	1.705	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.81914	0.991;0.986;0.995	T	0.68085	-0.5502	10	0.21014	T	0.42	.	18.4218	0.90594	0.0:1.0:0.0:0.0	.	753;804;804	Q8IVF7-2;Q8IVF7-3;Q8IVF7	.;.;FMNL3_HUMAN	Q	804;804;753;804	ENSP00000335655:R804Q;ENSP00000447479:R804Q;ENSP00000344311:R753Q;ENSP00000293590:R804Q	ENSP00000293590:R804Q	R	-	2	0	FMNL3	48329183	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.990000	0.70595	2.723000	0.93209	0.655000	0.94253	CGG	FMNL3-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405275.1		-	ENST00000335154.5	Missense_Mutation	SNP	12 : 50042916 - 50042916 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	875	35
ZMPSTE24	10269	broad.mit.edu	37	1	40735717	40735717	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40735717C>A	ENST00000372759.3	+	5	710	c.545C>A	c.(544-546)tCt>tAt	p.S182Y		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	182						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TTGCCTGTGTCTTCACTTCTA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													193	201	198			NA	NA	1		NA											NA				40735717		2203	4300	6503	SO:0001583	missense			Y13834	CCDS449.1	1p34	2014-09-17	2012-12-10		ENSG00000084073	ENSG00000084073	10269	10269	3.4.24.84		12877	protein-coding gene	gene with protein product	Hutchinson-Gilford progeria syndrome, CAAX prenyl protease 1 homolog	606480	zinc metalloproteinase (STE24 homolog, yeast), zinc metallopeptidase (STE24 homolog, yeast), zinc metallopeptidase STE24 homolog (S. cerevisiae)		NA	10373325, 9700155, 16671095	Standard		NM_005857	NA	Approved	FACE-1, Ste24p, STE24, HGPS, PRO1	uc001cfg.4	O75844	OTTHUMG00000005762	ENST00000372759.3:c.545C>A	1.37:g.40735717C>A	ENSP00000361845:p.Ser182Tyr	NA	B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	37	CCDS449.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230167	0.58777	.	.	ENSG00000084073	ENST00000372759	D	0.82619	-1.63	5.66	4.69	0.59074	.	0.151556	0.64402	D	0.000016	T	0.77818	0.4187	L	0.29908	0.895	0.49051	D	0.999745	B	0.29886	0.26	B	0.35859	0.212	T	0.76642	-0.2884	10	0.45353	T	0.12	-9.9802	16.0844	0.81031	0.0:0.8661:0.1339:0.0	.	182	O75844	FACE1_HUMAN	Y	182	ENSP00000361845:S182Y	ENSP00000361845:S182Y	S	+	2	0	ZMPSTE24	40508304	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.542000	0.60677	2.654000	0.90174	0.650000	0.86243	TCT	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000015766.1		+	ENST00000372759.3	Missense_Mutation	SNP	1 : 40735717 - 40735717 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	753	209
NCKAP5	344148	broad.mit.edu	37	2	133540013	133540013	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133540013G>A	ENST00000409261.1	-	14	4744	c.4371C>T	c.(4369-4371)acC>acT	p.T1457T	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.T1457T|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1457							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CATCAGTCGCGGTTGCAGAGG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	51	52			NA	NA	2		NA											NA				133540013		1922	4127	6049	SO:0001819	synonymous_variant			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771	344148	344148			29847	protein-coding gene	gene with protein product	Nck associated protein 5, peripheral clock protein	608789			NA	9344857	Standard	NM_207481	NM_207363	NA	Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4371C>T	2.37:g.133540013G>A		NA	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	37	CCDS46418.1																																																																																			NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331663.1		-	ENST00000409261.1	Silent	SNP	2 : 133540013 - 133540013 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	231	8
METTL15	196074	broad.mit.edu	37	11	28318399	28318399	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:28318399G>C	ENST00000406787.3	+	6	1113	c.655G>C	c.(655-657)Gaa>Caa	p.E219Q	METTL15_ENST00000303459.6_Missense_Mutation_p.K233N|METTL15_ENST00000342303.5_Missense_Mutation_p.K233N|METTL15_ENST00000407364.3_Missense_Mutation_p.K233N	NM_001113528.1	NP_001107000.1	A6NJ78	MET15_HUMAN	methyltransferase like 15	0							methyltransferase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						AGCATGCCAAGAAAATCGCTT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	108	114			NA	NA	11		NA											NA				28318399		2202	4299	6501	SO:0001583	missense			AL832668	CCDS31450.1, CCDS44559.1, CCDS73269.1	11p14.1	2011-03-02	2011-03-02	2011-03-02	ENSG00000169519	ENSG00000169519	196074	196074			26606	protein-coding gene	gene with protein product			methyltransferase 5 domain containing 1	METT5D1	NA	12477932	Standard	NM_152636	NM_152636	NA	Approved	FLJ33979	uc001msh.2	A6NJ78	OTTHUMG00000150448	ENST00000406787.3:c.655G>C	11.37:g.28318399G>C	ENSP00000385507:p.Glu219Gln	NA	A8MRS5|B7WNU2|Q3MHD3|Q8N601|Q8NBA7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.40|14.40	2.525169|2.525169	0.44969|0.44969	.|.	.|.	ENSG00000169519|ENSG00000169519	ENST00000406787|ENST00000342303;ENST00000407364;ENST00000303459	T|T;T;T	0.34275|0.38401	1.37|1.14;1.14;1.14	5.43|5.43	3.12|3.12	0.35913|0.35913	.|S-adenosyl-L-methionine-dependent methyltransferase, MraW, recognition domain (2);	.|0.450346	.|0.24115	.|N	.|0.041411	T|T	0.56187|0.56187	0.1968|0.1968	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	D|D;D	0.63046|0.55800	0.992|0.961;0.973	P|D;P	0.54544|0.65233	0.755|0.933;0.887	T|T	0.54166|0.54166	-0.8334|-0.8334	8|9	.|.	.|.	.|.	.|.	9.3675|9.3675	0.38234|0.38234	0.2054:0.0:0.7946:0.0|0.2054:0.0:0.7946:0.0	.|.	219|233;233	A6NJ78-4|A6NJ78;A6NJ78-2	.|MET15_HUMAN;.	Q|N	219|233	ENSP00000385507:E219Q|ENSP00000342259:K233N;ENSP00000384369:K233N;ENSP00000307251:K233N	.|.	E|K	+|+	1|3	0|2	METTL15|METTL15	28274975|28274975	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.986000|0.986000	0.74619|0.74619	4.413000|4.413000	0.59795|0.59795	0.388000|0.388000	0.25054|0.25054	0.650000|0.650000	0.86243|0.86243	GAA|AAG	METTL15-001	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000318133.1		+	ENST00000406787.3	Missense_Mutation	SNP	11 : 28318399 - 28318399 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	430	83
USH2A	7399	broad.mit.edu	37	1	215820899	215820899	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215820899G>T	ENST00000307340.3	-	67	15142	c.14756C>A	c.(14755-14757)gCt>gAt	p.A4919D	USH2A_ENST00000366943.2_Missense_Mutation_p.A4919D	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4919	Fibronectin type-III 34.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCACTCGGAAGCCGTACTGCC	0.542		NA								HNSCC(13;0.011)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	79	85			NA	NA	1		NA											NA				215820899		2203	4300	6503	SO:0001583	missense			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781	7399	7399		Fibronectin type III domain containing	12601	protein-coding gene	gene with protein product	usherin	608400		USH2	NA	9624053, 10729113	Standard	NM_007123	NM_007123	NA	Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14756C>A	1.37:g.215820899G>T	ENSP00000305941:p.Ala4919Asp	NA	Q5VVM9|Q6S362|Q9NS27	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468541	0.84533	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.53857	0.6;0.6	5.62	4.71	0.59529	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.159701	0.28889	N	0.013817	T	0.71143	0.3305	M	0.82517	2.595	0.54753	D	0.99998	D	0.56968	0.978	D	0.63283	0.913	T	0.72544	-0.4261	10	0.34782	T	0.22	.	14.2275	0.65871	0.0719:0.0:0.9281:0.0	.	4919	O75445	USH2A_HUMAN	D	4919	ENSP00000305941:A4919D;ENSP00000355910:A4919D	ENSP00000305941:A4919D	A	-	2	0	USH2A	213887522	1.000000	0.71417	0.644000	0.29465	0.966000	0.64601	5.161000	0.64935	1.385000	0.46445	0.650000	0.86243	GCT	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128138.1		-	ENST00000307340.3	Missense_Mutation	SNP	1 : 215820899 - 215820899 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	20
TRERF1	55809	broad.mit.edu	37	6	42196122	42196122	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42196122A>C	ENST00000372922.4	-	18	4126	c.3564T>G	c.(3562-3564)gaT>gaG	p.D1188E	TRERF1_ENST00000541110.1_Missense_Mutation_p.D1208E|TRERF1_ENST00000354325.2_Missense_Mutation_p.D1105E|TRERF1_ENST00000340840.2_Missense_Mutation_p.D1117E|TRERF1_ENST00000372917.4_Missense_Mutation_p.D1117E	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1188	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGAATCTTGATCATCCAAGA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	105	110			NA	NA	6		NA											NA				42196122		2203	4300	6503	SO:0001583	missense			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496	55809	55809			18273	protein-coding gene	gene with protein product		610322	breast cancer anti-estrogen resistance 2	BCAR2	NA	11349124	Standard	NM_033502	XM_005249223	NA	Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.3564T>G	6.37:g.42196122A>C	ENSP00000362013:p.Asp1188Glu	NA	Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	37	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	A	18.14	3.557120	0.65425	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.12569	2.74;2.67;2.75;2.67;2.68	5.77	-0.61	0.11604	.	0.194080	0.35525	N	0.003150	T	0.02767	0.0083	L	0.27053	0.805	0.35433	D	0.794248	B;B;B;B;P	0.41131	0.005;0.003;0.003;0.005;0.739	B;B;B;B;B	0.40782	0.01;0.004;0.004;0.01;0.34	T	0.44345	-0.9334	10	0.44086	T	0.13	-9.2392	2.0843	0.03642	0.377:0.1345:0.3575:0.131	.	1105;1208;1188;944;956	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	E	1208;1117;1188;1117;1105	ENSP00000439689:D1208E;ENSP00000362008:D1117E;ENSP00000362013:D1188E;ENSP00000339438:D1117E;ENSP00000346285:D1105E	ENSP00000339438:D1117E	D	-	3	2	TRERF1	42304100	0.996000	0.38824	0.982000	0.44146	0.946000	0.59487	0.316000	0.19469	-0.086000	0.12550	0.455000	0.32223	GAT	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040551.2		-	ENST00000372922.4	Missense_Mutation	SNP	6 : 42196122 - 42196122 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	500	88
TMCO2	127391	broad.mit.edu	37	1	40713707	40713707	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40713707G>A	ENST00000372766.3	+	1	135	c.42G>A	c.(40-42)gaG>gaA	p.E14E	TMCO2_ENST00000468258.1_Intron	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	14						integral to membrane				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			ACCTCTTAGAGTCTCTCTCTC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	160	159			NA	NA	1		NA											NA				40713707		2203	4300	6503	SO:0001819	synonymous_variant			AL050341	CCDS30684.1	1p34.2	2014-02-12			ENSG00000188800	ENSG00000188800	127391	127391			23312	protein-coding gene	gene with protein product					NA		Standard	NM_001008740	NM_001008740	NA	Approved	dJ39G22.2	uc001cfe.2	Q7Z6W1	OTTHUMG00000005764	ENST00000372766.3:c.42G>A	1.37:g.40713707G>A		NA		37	CCDS30684.1																																																																																			TMCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000015769.1		+	ENST00000372766.3	Silent	SNP	1 : 40713707 - 40713707 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1047	228
SLC6A17	388662	broad.mit.edu	37	1	110716645	110716645	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110716645C>A	ENST00000331565.4	+	4	980	c.495C>A	c.(493-495)atC>atA	p.I165I		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	165					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GGTGGAGCATCTTCTATTTCT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													192	186	188			NA	NA	1		NA											NA				110716645		2203	4300	6503	SO:0001819	synonymous_variant				CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106	388662	388662		Solute carriers	31399	protein-coding gene	gene with protein product		610299	solute carrier family 6 (neurotransmitter transporter), member 17, solute carrier family 6, member 17		NA		Standard	XM_371280	NM_001010898	NA	Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.495C>A	1.37:g.110716645C>A		NA	A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	37	CCDS30799.1																																																																																			SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032550.2		+	ENST00000331565.4	Silent	SNP	1 : 110716645 - 110716645 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	782	67
RNF123	63891	broad.mit.edu	37	3	49740132	49740132	+	Missense_Mutation	SNP	C	C	T	rs146532174		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49740132C>T	ENST00000327697.6	+	20	1840	c.1696C>T	c.(1696-1698)Cgc>Tgc	p.R566C	RNF123_ENST00000432042.1_Missense_Mutation_p.R420C	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	566						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CTCTGCCCTGCGCTACTATTG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	298	257	271		1696	3.2	1	3	dbSNP_134	271	1,8599		0,1,4299	yes	missense	RNF123	NM_022064.2	180	0,2,6501	TT,TC,CC	NA	0.0116,0.0227,0.0154	probably-damaging	566/1315	49740132	2,13004	2203	4300	6503	SO:0001583	missense			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068	63891	63891		RING-type (C3HC4) zinc fingers	21148	protein-coding gene	gene with protein product		614472			NA		Standard	NM_022064	NM_022064	NA	Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.1696C>T	3.37:g.49740132C>T	ENSP00000328287:p.Arg566Cys	NA	A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	37	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105078	0.77096	2.27E-4	1.16E-4	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.79352	-0.93;-1.26	5.2	3.19	0.36642	.	0.000000	0.64402	D	0.000017	T	0.80082	0.4558	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.99	T	0.81854	-0.0741	10	0.87932	D	0	-24.0101	12.4462	0.55651	0.3556:0.6444:0.0:0.0	.	420;566	C9J266;Q5XPI4	.;RN123_HUMAN	C	566;566;420	ENSP00000328287:R566C;ENSP00000392443:R420C	ENSP00000328287:R566C	R	+	1	0	RNF123	49715136	1.000000	0.71417	0.995000	0.50966	0.967000	0.64934	1.330000	0.33781	2.441000	0.82636	0.655000	0.94253	CGC	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346475.2		+	ENST00000327697.6	Missense_Mutation	SNP	3 : 49740132 - 49740132 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1831	183
SNX24	28966	broad.mit.edu	37	5	122337670	122337670	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122337670G>T	ENST00000261369.4	+	6	598	c.413G>T	c.(412-414)aGg>aTg	p.R138M	SNX24_ENST00000506996.1_Missense_Mutation_p.R138M|SNX24_ENST00000513881.1_Missense_Mutation_p.R138M|SNX24_ENST00000395451.4_Missense_Mutation_p.R171M	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	sorting nexin 24	138					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		CTGTTCCTCAGGGATCCATAT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	151	159			NA	NA	5		NA											NA				122337670		2203	4300	6503	SO:0001583	missense			AF139461	CCDS4132.1	5q23.2	2008-03-11	2007-08-15		ENSG00000064652	ENSG00000064652	28966	28966		Sorting nexins	21533	protein-coding gene	gene with protein product					NA	12461558	Standard	NM_014035	NM_014035	NA	Approved	SBBI31	uc011cwo.2	Q9Y343	OTTHUMG00000128913	ENST00000261369.4:c.413G>T	5.37:g.122337670G>T	ENSP00000261369:p.Arg138Met	NA	Q6UY33	37	CCDS4132.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878300	0.72294	.	.	ENSG00000064652	ENST00000261369;ENST00000513881;ENST00000395451;ENST00000506996	T;T;T	0.64803	-0.08;-0.12;-0.12	5.86	5.86	0.93980	.	0.038056	0.85682	D	0.000000	T	0.73125	0.3547	L	0.39397	1.21	0.58432	D	0.999999	D;D	0.69078	0.995;0.997	P;D	0.66847	0.839;0.947	T	0.69654	-0.5087	10	0.42905	T	0.14	-16.5217	20.5632	0.99335	0.0:0.0:1.0:0.0	.	138;138	Q9Y343;Q9Y343-2	SNX24_HUMAN;.	M	138;138;171;138	ENSP00000261369:R138M;ENSP00000424149:R138M;ENSP00000422535:R138M	ENSP00000261369:R138M	R	+	2	0	SNX24	122365569	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.616000	0.90924	2.937000	0.99478	0.650000	0.86243	AGG	SNX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250885.2		+	ENST00000261369.4	Missense_Mutation	SNP	5 : 122337670 - 122337670 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	711	25
SCAP	22937	broad.mit.edu	37	3	47467101	47467101	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47467101C>T	ENST00000265565.5	-	8	1323	c.911G>A	c.(910-912)cGg>cAg	p.R304Q	SCAP_ENST00000441517.2_Splice_Site_p.R49Q|SCAP_ENST00000545718.1_Intron	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	304	SSD.				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GTCGATCTTCCCTGGAGGGCA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(149;978 1908 29304 37806 46700)							NA				0													72	68	69			NA	NA	3		NA											NA				47467101		2203	4300	6503	SO:0001630	splice_region_variant			BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650	22937	22937		WD repeat domain containing	30634	protein-coding gene	gene with protein product	SREBP cleavage activating protein	601510			NA	8898195, 8724849, 10570913	Standard	NM_012235	XM_005264967	NA	Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.911-1G>A	3.37:g.47467101C>T		NA	Q8N2E0|Q8WUA1	37	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	C	37	6.098913	0.97281	.	.	ENSG00000114650	ENST00000339815;ENST00000265565;ENST00000441517	D;D	0.93247	-3.19;-3.19	5.42	5.42	0.78866	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.94909	0.8354	L	0.52364	1.645	0.80722	D	1	P;D	0.54601	0.95;0.967	P;P	0.59288	0.613;0.855	D	0.94139	0.7395	10	0.45353	T	0.12	.	18.9933	0.92803	0.0:1.0:0.0:0.0	.	49;304	F8W921;Q12770	.;SCAP_HUMAN	Q	304;304;49	ENSP00000265565:R304Q;ENSP00000416847:R49Q	ENSP00000265565:R304Q	R	-	2	0	SCAP	47442105	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.413000	0.80104	2.820000	0.97059	0.650000	0.86243	CGG	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000246872.2	Missense_Mutation	-	ENST00000265565.5	Splice_Site	SNP	3 : 47467101 - 47467101 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	77
TTN	7273	broad.mit.edu	37	2	179507020	179507020	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179507020C>T	ENST00000589042.1	-	219	40726	c.40502G>A	c.(40501-40503)cGc>cAc	p.R13501H	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R10933H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R11860H|TTN_ENST00000342175.6_Missense_Mutation_p.R4628H|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R4561H|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R4436H|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11860	Ig-like 91.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGTAATTTGCGAACTTTCTT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	49	51			NA	NA	2		NA											NA				179507020		1803	4065	5868	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.40502G>A	2.37:g.179507020C>T	ENSP00000467141:p.Arg13501His	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502075	0.64298	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000414766;ENST00000434777	T;T;T;T	0.67345	-0.26;0.17;0.16;0.15	5.55	4.67	0.58626	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.59307	0.2184	L	0.46157	1.445	0.36310	D	0.857617	B;B;B;B;B	0.31640	0.014;0.014;0.014;0.014;0.333	B;B;B;B;B	0.25506	0.005;0.005;0.005;0.005;0.061	T	0.67715	-0.5599	9	0.87932	D	0	.	14.1448	0.65344	0.0:0.928:0.0:0.072	.	4436;4561;4628;11860;10627	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-5	.;.;.;TITIN_HUMAN;.	H	10933;4436;4628;4561;4436;822;160	ENSP00000343764:R10933H;ENSP00000434586:R4436H;ENSP00000340554:R4628H;ENSP00000352154:R4561H	ENSP00000340554:R4628H	R	-	2	0	TTN	179215265	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.528000	0.53524	1.344000	0.45657	0.591000	0.81541	CGC	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179507020 - 179507020 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	55	7
DEGS1	8560	broad.mit.edu	37	1	224380108	224380108	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:224380108T>G	ENST00000323699.4	+	3	1066	c.900T>G	c.(898-900)ttT>ttG	p.F300L	DEGS1_ENST00000391877.3_Missense_Mutation_p.F300L	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	300					sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity			breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		TGTATGATTTTGTGATGGATG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	80	82			NA	NA	1		NA											NA				224380108		2203	4300	6503	SO:0001583	missense			AF002668	CCDS1540.1	1q42.11	2013-09-02	2011-12-09	2004-12-14	ENSG00000143753	ENSG00000143753	8560	8560		Fatty acid desaturases	13709	protein-coding gene	gene with protein product	sphingolipid delta(4)-desaturase 1, dihydroceramide desaturase 1	615843	degenerative spermatocyte homolog 1, lipid desaturase (Drosophila)		NA	9188692, 20105137	Standard		NM_003676	NA	Approved	MLD, Des-1, DES1, FADS7, DEGS-1	uc001hoj.3	O15121	OTTHUMG00000037496	ENST00000323699.4:c.900T>G	1.37:g.224380108T>G	ENSP00000316476:p.Phe300Leu	NA		37	CCDS1540.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.429825	0.83776	.	.	ENSG00000143753	ENST00000323699;ENST00000391877	T;T	0.55234	0.53;0.53	5.85	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.74015	0.3661	M	0.90977	3.165	0.80722	D	1	D	0.69078	0.997	D	0.68765	0.96	T	0.76793	-0.2828	9	.	.	.	.	7.8847	0.29642	0.0:0.2314:0.0:0.7686	.	300	O15121	DEGS1_HUMAN	L	300	ENSP00000316476:F300L;ENSP00000375749:F300L	.	F	+	3	2	DEGS1	222446731	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	0.652000	0.24888	1.038000	0.40049	0.459000	0.35465	TTT	DEGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091285.2		+	ENST00000323699.4	Missense_Mutation	SNP	1 : 224380108 - 224380108 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	259	80
PLXNB3	5365	broad.mit.edu	37	X	153032536	153032536	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153032536C>T	ENST00000361971.5	+	3	368	c.254C>T	c.(253-255)gCc>gTc	p.A85V	PLXNB3_ENST00000538966.1_Missense_Mutation_p.A108V|PLXNB3_ENST00000538776.1_Intron|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000538543.1_Intron	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	85	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCTCGAGGCCGTGGCTGTC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	32	34			NA	NA	X		NA											NA				153032536		2202	4299	6501	SO:0001583	missense			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753	5365	5365		Plexins	9105	protein-coding gene	gene with protein product		300214		PLXN6	NA	10520995	Standard		NM_005393	NA	Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.254C>T	X.37:g.153032536C>T	ENSP00000355378:p.Ala85Val	NA	Q9HDA4	37	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	C	5.906	0.351217	0.11182	.	.	ENSG00000198753	ENST00000538966;ENST00000361971	T;T	0.04275	3.66;3.66	4.92	2.04	0.26737	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.943604	0.08769	N	0.896659	T	0.02610	0.0079	N	0.11313	0.125	0.09310	N	1	B;B	0.21688	0.059;0.007	B;B	0.28465	0.09;0.021	T	0.49818	-0.8899	10	0.19590	T	0.45	.	1.1318	0.01746	0.1506:0.3674:0.2593:0.2226	.	108;85	F5H773;Q9ULL4	.;PLXB3_HUMAN	V	108;85	ENSP00000442736:A108V;ENSP00000355378:A85V	ENSP00000355378:A85V	A	+	2	0	PLXNB3	152685730	0.000000	0.05858	0.036000	0.18154	0.099000	0.18886	-0.384000	0.07389	0.863000	0.35553	-0.296000	0.09543	GCC	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000061063.1		+	ENST00000361971.5	Missense_Mutation	SNP	X : 153032536 - 153032536 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	152	48
PPT2	9374	broad.mit.edu	37	6	32130591	32130591	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32130591T>C	ENST00000324816.6	+	9	1341	c.773T>C	c.(772-774)cTg>cCg	p.L258P	PPT2_ENST00000375137.2_Missense_Mutation_p.L258P|PPT2_ENST00000395523.1_Missense_Mutation_p.L258P|PPT2_ENST00000445576.2_Intron|PPT2_ENST00000361568.2_Missense_Mutation_p.L264P|PPT2_ENST00000437001.2_Intron|PPT2-EGFL8_ENST00000453656.2_Intron|PPT2-EGFL8_ENST00000422437.1_Intron|PPT2_ENST00000375143.2_Missense_Mutation_p.L258P			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	258					protein modification process	lysosome	palmitoyl-(protein) hydrolase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						AAGGTTTATCTGCGGGATTCT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	117	114			NA	NA	6		NA											NA				32130591		2203	4300	6503	SO:0001583	missense			AF020543	CCDS4740.1, CCDS4742.1	6p21.3	2012-07-02			ENSG00000221988	ENSG00000221988	9374	9374	3.1.2.22		9326	protein-coding gene	gene with protein product		603298			NA	9341199, 10051407	Standard	NM_138717	NM_138717	NA	Approved		uc003nzw.3	Q9UMR5	OTTHUMG00000031257	ENST00000324816.6:c.773T>C	6.37:g.32130591T>C	ENSP00000320528:p.Leu258Pro	NA	A2ABC9|A2ABD1|A2ARM7|A2BFH7|A2BFH9|A2BFI2|A8K9L4|B0S868|O14799|Q0P6K0|Q5JP13|Q5JP14|Q5JQF0|Q5SSX4|Q5SSX5|Q5SSX6|Q5STJ4|Q5STJ5|Q5STJ6|Q6FI80|Q99945	37	CCDS4742.1	.	.	.	.	.	.	.	.	.	.	T	16.93	3.258556	0.59321	.	.	ENSG00000221988	ENST00000361568;ENST00000395523;ENST00000324816;ENST00000375137;ENST00000375143	D;D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96;-3.96	5.81	5.81	0.92471	.	0.080153	0.51477	D	0.000092	D	0.95140	0.8425	L	0.47190	1.495	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.57324	0.752;0.818	D	0.94354	0.7582	10	0.35671	T	0.21	-8.3285	12.5588	0.56269	0.0:0.0:0.0:1.0	.	258;264	Q9UMR5;B0S872	PPT2_HUMAN;.	P	264;258;258;258;258	ENSP00000354608:L264P;ENSP00000378894:L258P;ENSP00000320528:L258P;ENSP00000364279:L258P;ENSP00000364285:L258P	ENSP00000320528:L258P	L	+	2	0	PPT2	32238569	0.929000	0.31497	0.997000	0.53966	0.988000	0.76386	2.341000	0.43983	2.210000	0.71456	0.533000	0.62120	CTG	PPT2-207	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076552.4		+	ENST00000324816.6	Missense_Mutation	SNP	6 : 32130591 - 32130591 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1130	128
F8	2157	broad.mit.edu	37	X	154156894	154156894	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:154156894C>T	ENST00000360256.4	-	14	5371	c.5171G>A	c.(5170-5172)aGg>aAg	p.R1724K		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1724	F5/8 type A 3.|Plastocyanin-like 5.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ATCCCAGAGCCTCTCCACTGC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	59	64			NA	NA	X		NA											NA				154156894		2203	4300	6503	SO:0001583	missense			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010	2157	2157			3546	protein-coding gene	gene with protein product	Factor VIIIF8B, hemophilia A	300841		F8C	NA	6438528, 3935400	Standard		NM_000132	NA	Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.5171G>A	X.37:g.154156894C>T	ENSP00000353393:p.Arg1724Lys	NA	Q5HY69	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	C	3.065	-0.192479	0.06259	.	.	ENSG00000185010	ENST00000360256	D	0.98717	-5.09	5.15	1.49	0.22878	Cupredoxin (2);	0.683124	0.14244	N	0.331866	D	0.90906	0.7142	N	0.03608	-0.345	0.19300	N	0.999977	B	0.10296	0.003	B	0.08055	0.003	D	0.84554	0.0646	10	0.02654	T	1	-1.5746	2.4056	0.04412	0.2282:0.379:0.0:0.3927	.	1724	P00451	FA8_HUMAN	K	1724	ENSP00000353393:R1724K	ENSP00000353393:R1724K	R	-	2	0	F8	153810088	0.466000	0.25823	0.990000	0.47175	0.961000	0.63080	-0.051000	0.11885	0.330000	0.23485	0.538000	0.68166	AGG	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058869.4		-	ENST00000360256.4	Missense_Mutation	SNP	X : 154156894 - 154156894 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	161	47
TMPRSS9	360200	broad.mit.edu	37	19	2405479	2405479	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2405479C>T	ENST00000332578.3	+	6	676	c.676C>T	c.(676-678)Cac>Tac	p.H226Y		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	226	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		GAACAAGGAGCACTTCTGTGG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	80	81			NA	NA	19		NA											NA				2405479		2203	4300	6503	SO:0001583	missense			AJ488946	CCDS12088.1	19p13.3	2010-04-13					360200	360200		Serine peptidases / Transmembrane	30079	protein-coding gene	gene with protein product	polyserase 1	610477			NA	12886014	Standard	NM_182973	NM_182973	NA	Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.676C>T	19.37:g.2405479C>T	ENSP00000330264:p.His226Tyr	NA	Q6ZND6|Q7Z411	37	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467424	0.84533	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	T	0.60548	0.18	4.43	4.43	0.53597	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.50627	D	0.000112	T	0.70945	0.3282	L	0.49513	1.565	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.74836	-0.3529	10	0.87932	D	0	.	15.9549	0.79880	0.0:1.0:0.0:0.0	.	226;260	Q7Z410;E7EMP4	TMPS9_HUMAN;.	Y	260;226	ENSP00000330264:H226Y	ENSP00000330264:H226Y	H	+	1	0	TMPRSS9	2356479	1.000000	0.71417	0.990000	0.47175	0.829000	0.46940	7.628000	0.83189	2.188000	0.69820	0.484000	0.47621	CAC	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451330.3		+	ENST00000332578.3	Missense_Mutation	SNP	19 : 2405479 - 2405479 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	440	70
BLVRA	644	broad.mit.edu	37	7	43843295	43843295	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43843295C>T	ENST00000402924.1	+	8	644	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	BLVRA_ENST00000265523.4_Missense_Mutation_p.R161W	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	161					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	GGAAGAAGAGCGGTTTGGCTT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TRP/ARG	0,4406		0,0,2203	175	181	179		481	3.4	1	7		179	1,8599	1.2+/-3.3	0,1,4299	no	missense	BLVRA	NM_000712.3	101	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	161/297	43843295	1,13005	2203	4300	6503	SO:0001583	missense			BC008456	CCDS5472.1	7p13	2012-10-02			ENSG00000106605	ENSG00000106605	644	644	1.3.1.24		1062	protein-coding gene	gene with protein product		109750		BLVR	NA		Standard	NM_000712	NM_001253823	NA	Approved		uc003tir.3	P53004	OTTHUMG00000128953	ENST00000402924.1:c.481C>T	7.37:g.43843295C>T	ENSP00000385757:p.Arg161Trp	NA	A8K747|O95019|Q86UX0|Q96QL4|Q9BRW8	37	CCDS5472.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405472	0.62288	0.0	1.16E-4	ENSG00000106605	ENST00000265523;ENST00000402924	T;T	0.25749	1.78;1.78	4.32	3.43	0.39272	Biliverdin reductase, catalytic (2);	1.288820	0.05404	N	0.541181	T	0.38295	0.1035	L	0.34521	1.04	0.27900	N	0.93901	D	0.76494	0.999	D	0.64321	0.924	T	0.26052	-1.0114	10	0.32370	T	0.25	.	9.8946	0.41311	0.204:0.796:0.0:0.0	.	161	P53004	BIEA_HUMAN	W	161	ENSP00000265523:R161W;ENSP00000385757:R161W	ENSP00000265523:R161W	R	+	1	2	BLVRA	43809820	1.000000	0.71417	0.976000	0.42696	0.960000	0.62799	1.469000	0.35343	0.923000	0.37045	-0.310000	0.09108	CGG	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339006.1		+	ENST00000402924.1	Missense_Mutation	SNP	7 : 43843295 - 43843295 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1557	259
GPRASP2	114928	broad.mit.edu	37	X	101970438	101970438	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101970438C>T	ENST00000535209.1	+	4	1472	c.641C>T	c.(640-642)gCc>gTc	p.A214V	GPRASP2_ENST00000543253.1_Missense_Mutation_p.A214V|GPRASP2_ENST00000332262.5_Missense_Mutation_p.A214V					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						AGGCCCAGGGCCAGAGAGGAG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	109	106			NA	NA	X		NA											NA				101970438		2203	4300	6503	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.641C>T	X.37:g.101970438C>T	ENSP00000437394:p.Ala214Val	NA		37	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	C	9.431	1.085611	0.20390	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.07114	3.22;3.22;3.22	5.05	3.25	0.37280	.	0.306114	0.23861	N	0.043841	T	0.05318	0.0141	N	0.20530	0.585	0.32385	N	0.55402	B	0.21905	0.062	B	0.19391	0.025	T	0.22452	-1.0216	10	0.25751	T	0.34	.	8.2111	0.31483	0.0:0.7519:0.1559:0.0922	.	214	Q96D09	GASP2_HUMAN	V	214	ENSP00000437872:A214V;ENSP00000437394:A214V;ENSP00000339057:A214V	ENSP00000339057:A214V	A	+	2	0	GPRASP2	101857094	0.678000	0.27586	0.396000	0.26296	0.002000	0.02628	1.146000	0.31589	0.590000	0.29694	-0.218000	0.12543	GCC	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057626.2		+	ENST00000535209.1	Missense_Mutation	SNP	X : 101970438 - 101970438 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	731	200
TRPM6	140803	broad.mit.edu	37	9	77422987	77422987	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77422987A>C	ENST00000360774.1	-	14	1838	c.1601T>G	c.(1600-1602)tTc>tGc	p.F534C	TRPM6_ENST00000449912.2_Missense_Mutation_p.F529C|TRPM6_ENST00000376872.3_Missense_Mutation_p.F534C|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.F529C|TRPM6_ENST00000451710.3_Missense_Mutation_p.F534C|TRPM6_ENST00000376864.4_Missense_Mutation_p.F534C	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	534					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GAGGGCTCTGAAATGTTTTCT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													261	248	252			NA	NA	9		NA											NA				77422987		2203	4300	6503	SO:0001583	missense			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121	140803	140803		Voltage-gated ion channels / Transient receptor potential cation channels	17995	protein-coding gene	gene with protein product		607009	hypomagnesemia, secondary hypocalcemia	HOMG, HSH	NA	10021370, 12032570, 16382100	Standard	NM_017662	NM_017662	NA	Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1601T>G	9.37:g.77422987A>C	ENSP00000354006:p.Phe534Cys	NA	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.483220	0.84747	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T;T	0.74737	-0.87;-0.87;-0.04;-0.87;-0.87;-0.87	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.88779	0.6529	M	0.89601	3.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	D	0.91034	0.4866	10	0.87932	D	0	.	16.084	0.81025	1.0:0.0:0.0:0.0	.	534;534;529	Q9BX84-5;Q9BX84;Q9BX84-3	.;TRPM6_HUMAN;.	C	534;534;534;529;529;534;197;197	ENSP00000354006:F534C;ENSP00000407341:F534C;ENSP00000366068:F534C;ENSP00000396672:F529C;ENSP00000354962:F529C;ENSP00000366060:F534C	ENSP00000309693:F197C	F	-	2	0	TRPM6	76612807	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	9.339000	0.96797	2.202000	0.70862	0.482000	0.46254	TTC	TRPM6-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052693.1		-	ENST00000360774.1	Missense_Mutation	SNP	9 : 77422987 - 77422987 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	541	50
LRRC18	474354	broad.mit.edu	37	10	50122110	50122110	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50122110G>A	ENST00000374160.3	-	1	167	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	LRRC18_ENST00000298124.3_Missense_Mutation_p.R31C|WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron|RP11-523O18.7_ENST00000430438.1_RNA	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	31			R -> H (in dbSNP:rs17772611).			cytoplasm		p.R31C(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						AAGTCAAGGCGCTTTTTCCCA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											85	75	79			NA	NA	10		NA											NA				50122110		2203	4300	6503	SO:0001583	missense			AY358137	CCDS31197.1	10q11.23	2011-02-10			ENSG00000165383	ENSG00000165383	474354	474354			23199	protein-coding gene	gene with protein product					NA		Standard	NM_001006939	NM_001006939	NA	Approved	UNQ933, MGC34773, UNQ9338, VKGE9338	uc001jhd.3	Q8N456	OTTHUMG00000018182	ENST00000374160.3:c.91C>T	10.37:g.50122110G>A	ENSP00000363275:p.Arg31Cys	NA	Q6UY02	37	CCDS31197.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065149	0.76187	.	.	ENSG00000165383	ENST00000374160;ENST00000298124	T;T	0.53206	0.63;0.63	6.06	6.06	0.98353	.	0.109676	0.56097	D	0.000023	T	0.61123	0.2322	L	0.45285	1.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55418	-0.8144	9	.	.	.	.	15.3675	0.74535	0.0:0.0:0.8606:0.1394	.	31	Q8N456	LRC18_HUMAN	C	31	ENSP00000363275:R31C;ENSP00000298124:R31C	.	R	-	1	0	LRRC18	49792116	1.000000	0.71417	0.956000	0.39512	0.917000	0.54804	5.111000	0.64628	2.880000	0.98712	0.650000	0.86243	CGC	LRRC18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047964.1		-	ENST00000374160.3	Missense_Mutation	SNP	10 : 50122110 - 50122110 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	227	38
PLXDC1	57125	broad.mit.edu	37	17	37234253	37234253	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37234253C>T	ENST00000315392.4	-	11	1310	c.1099G>A	c.(1099-1101)Gcc>Acc	p.A367T	PLXDC1_ENST00000539608.1_3'UTR|CTD-2206N4.4_ENST00000583447.1_RNA|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.A327T	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	367					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TCAGGGGAGGCTGAGTCGTGG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													195	129	152			NA	NA	17		NA											NA				37234253		2203	4300	6503	SO:0001583	missense			AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381	57125	57125			20945	protein-coding gene	gene with protein product	tumor endothelial marker 7 precursor	606826			NA	10947988, 11559528	Standard	NM_020405	NM_020405	NA	Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.1099G>A	17.37:g.37234253C>T	ENSP00000323927:p.Ala367Thr	NA	B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	37	CCDS11333.1	.	.	.	.	.	.	.	.	.	.	C	4.894	0.166156	0.09339	.	.	ENSG00000161381	ENST00000315392;ENST00000394318;ENST00000444911	T;T	0.21734	1.99;1.99	5.2	0.627	0.17675	.	0.467132	0.21120	N	0.079822	T	0.11324	0.0276	N	0.22421	0.69	0.31484	N	0.666856	B;B	0.26935	0.164;0.041	B;B	0.22601	0.04;0.025	T	0.33752	-0.9856	10	0.10377	T	0.69	-11.8196	11.4445	0.50114	0.2013:0.7065:0.0921:0.0	.	327;367	B4E173;Q8IUK5	.;PXDC1_HUMAN	T	367;294;327	ENSP00000323927:A367T;ENSP00000409687:A327T	ENSP00000323927:A367T	A	-	1	0	PLXDC1	34487779	0.111000	0.22076	0.074000	0.20217	0.112000	0.19704	0.621000	0.24418	-0.026000	0.13895	0.655000	0.94253	GCC	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256892.2		-	ENST00000315392.4	Missense_Mutation	SNP	17 : 37234253 - 37234253 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	353	57
SMG5	23381	broad.mit.edu	37	1	156221200	156221200	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156221200T>C	ENST00000361813.5	-	20	2966	c.2822A>G	c.(2821-2823)gAt>gGt	p.D941G	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	941	PINc.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TTACCAGGCATCTGCATCCTG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													224	215	218			NA	NA	1		NA											NA				156221200		2203	4300	6503	SO:0001583	missense			AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952	23381	23381			24644	protein-coding gene	gene with protein product	EST1 telomerase component homolog B (S. cerevisiae)	610962	smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)		NA	12676087, 12699629	Standard	NM_015327	NM_015327	NA	Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.2822A>G	1.37:g.156221200T>C	ENSP00000355261:p.Asp941Gly	NA	D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	37	CCDS1137.1	.	.	.	.	.	.	.	.	.	.	T	19.82	3.898959	0.72754	.	.	ENSG00000198952	ENST00000361813	T	0.33654	1.4	4.56	4.56	0.56223	Nucleotide binding protein, PINc (1);	0.060757	0.64402	D	0.000005	T	0.27489	0.0675	L	0.52573	1.65	0.80722	D	1	P	0.47677	0.899	P	0.45913	0.497	T	0.10636	-1.0621	10	0.66056	D	0.02	-26.2081	13.2101	0.59819	0.0:0.0:0.0:1.0	.	941	Q9UPR3	SMG5_HUMAN	G	941	ENSP00000355261:D941G	ENSP00000355261:D941G	D	-	2	0	SMG5	154487824	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.029000	0.76477	2.062000	0.61559	0.459000	0.35465	GAT	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046308.1		-	ENST00000361813.5	Missense_Mutation	SNP	1 : 156221200 - 156221200 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1200	214
MARCH10	162333	broad.mit.edu	37	17	60814645	60814645	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60814645C>A	ENST00000544856.2	-	7	959	c.581G>T	c.(580-582)aGg>aTg	p.R194M	MARCH10_ENST00000311269.5_Missense_Mutation_p.R195M|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.R233M|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.R195M			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	195							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TTGATTTGGCCTCTTCAGCTT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													261	247	252			NA	NA	17		NA											NA				60814645		2203	4300	6503	SO:0001583	missense			AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838	162333	162333		RING-type (C3HC4) zinc fingers, MARCH membrane-associated ring fingers	26655	protein-coding gene	gene with protein product		613337	ring finger protein 190, membrane-associated ring finger (C3HC4) 10	RNF190	NA	17604280	Standard	NM_152598	XM_005257103	NA	Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000544856.2:c.581G>T	17.37:g.60814645C>A	ENSP00000443746:p.Arg194Met	NA	D3DU09|Q8IYS7|Q8N7Z7	37		.	.	.	.	.	.	.	.	.	.	C	4.580	0.107752	0.08780	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	T;T;T	0.33216	1.42;1.42;1.42	4.98	1.82	0.25136	.	0.185545	0.38164	N	0.001786	T	0.41719	0.1171	M	0.64997	1.995	0.22562	N	0.998987	D;D;D	0.59357	0.975;0.985;0.975	P;P;P	0.55161	0.594;0.77;0.594	T	0.31833	-0.9929	10	0.87932	D	0	-5.5333	10.1264	0.42652	0.0:0.7488:0.0:0.2512	.	194;194;195	B3KVK0;G3V1Q5;Q8NA82	.;.;MARHA_HUMAN	M	195;195;194	ENSP00000416177:R195M;ENSP00000311496:R195M;ENSP00000443746:R194M	ENSP00000311496:R195M	R	-	2	0	MARCH10	58168377	0.972000	0.33761	0.908000	0.35775	0.230000	0.25150	0.652000	0.24888	-0.072000	0.12864	-1.134000	0.01955	AGG	MARCH10-003	PUTATIVE	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000445254.1		-	ENST00000544856.2	Missense_Mutation	SNP	17 : 60814645 - 60814645 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1536	287
COL6A3	1293	broad.mit.edu	37	2	238245116	238245116	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238245116G>A	ENST00000295550.4	-	40	9079	c.8627C>T	c.(8626-8628)cCg>cTg	p.P2876L	COL6A3_ENST00000347401.3_Missense_Mutation_p.P2675L|COL6A3_ENST00000409809.1_Missense_Mutation_p.P2670L|COL6A3_ENST00000353578.4_Missense_Mutation_p.P2670L|COL6A3_ENST00000346358.4_Missense_Mutation_p.P2676L|COL6A3_ENST00000472056.1_Missense_Mutation_p.P2269L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2876	Nonhelical region.|Thr-rich.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGTAGTCACCGGCTTCGTTGT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	LEU/PRO,LEU/PRO,LEU/PRO	0,4406		0,0,2203	170	158	162		8627,6806,8009	4.1	0.1	2		162	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	COL6A3	NM_004369.3,NM_057166.4,NM_057167.3	98,98,98	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	2876/3178,2269/2571,2670/2972	238245116	1,13005	2203	4300	6503	SO:0001583	missense			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359	1293	1293		Collagens	2213	protein-coding gene	gene with protein product		120250			NA	1339440, 11992252	Standard	NM_004369	NM_004369	NA	Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.8627C>T	2.37:g.238245116G>A	ENSP00000295550:p.Pro2876Leu	NA	Q16501|Q53QF4|Q53QF6	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	4.155	0.027127	0.08054	0.0	1.16E-4	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.90563	-2.69;-2.65;-2.65;-2.64;-2.65;-2.62	4.05	4.05	0.47172	.	0.145674	0.31797	N	0.007057	D	0.84469	0.5479	L	0.48877	1.53	0.19575	N	0.999962	P;P;P	0.39404	0.672;0.655;0.524	B;B;B	0.28784	0.043;0.094;0.043	T	0.80460	-0.1373	10	0.72032	D	0.01	.	12.0817	0.53675	0.0:0.0:1.0:0.0	.	2269;2670;2876	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	L	2876;2675;2670;2269;2670;2676	ENSP00000295550:P2876L;ENSP00000315609:P2675L;ENSP00000315873:P2670L;ENSP00000418285:P2269L;ENSP00000386844:P2670L;ENSP00000295546:P2676L	ENSP00000295550:P2876L	P	-	2	0	COL6A3	237909855	0.051000	0.20477	0.056000	0.19401	0.093000	0.18481	2.136000	0.42121	1.952000	0.56665	0.563000	0.77884	CCG	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000315790.2		-	ENST00000295550.4	Missense_Mutation	SNP	2 : 238245116 - 238245116 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	935	188
DBX2	440097	broad.mit.edu	37	12	45429866	45429866	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:45429866C>T	ENST00000332700.6	-	2	606	c.435G>A	c.(433-435)ccG>ccA	p.P145P		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	145						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		agtagaatggcggggtgctca	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	70	67			NA	NA	12		NA											NA				45429866		2203	4300	6503	SO:0001819	synonymous_variant				CCDS31781.1	12q12	2011-06-20				ENSG00000185610	440097	440097		Homeoboxes / ANTP class : NKL subclass	33186	protein-coding gene	gene with protein product					NA	11239429	Standard	NM_001004329	NM_001004329	NA	Approved	FLJ16139	uc001rok.1	Q6ZNG2	OTTHUMG00000169559	ENST00000332700.6:c.435G>A	12.37:g.45429866C>T		NA		37	CCDS31781.1																																																																																			DBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404810.1		-	ENST00000332700.6	Silent	SNP	12 : 45429866 - 45429866 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	179	31
SORL1	6653	broad.mit.edu	37	11	121383800	121383800	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121383800G>T	ENST00000260197.7	+	7	1157	c.1028G>T	c.(1027-1029)aGa>aTa	p.R343I	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	343					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTTGTCACAAGACATCCTATT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	105	107			NA	NA	11		NA											NA				121383800		2203	4299	6502	SO:0001583	missense			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642	6653	6653		Fibronectin type III domain containing	11185	protein-coding gene	gene with protein product	LDLR relative with 11 ligand-binding repeats	602005	chromosome 11 open reading frame 32, sortilin-related receptor, L(DLR class) A repeats-containing	C11orf32	NA	9157966, 8940146	Standard	NM_003105	NM_003105	NA	Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.1028G>T	11.37:g.121383800G>T	ENSP00000260197:p.Arg343Ile	NA	B2RNX7|Q92856	37	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456427	0.63401	.	.	ENSG00000137642	ENST00000260197	T	0.27557	1.66	5.19	4.27	0.50696	VPS10 (1);	0.248756	0.37715	N	0.001971	T	0.25606	0.0623	L	0.29908	0.895	0.80722	D	1	P	0.36183	0.542	B	0.41412	0.356	T	0.05937	-1.0855	10	0.59425	D	0.04	.	8.0411	0.30521	0.2403:0.0:0.7597:0.0	.	343	Q92673	SORL_HUMAN	I	343	ENSP00000260197:R343I	ENSP00000260197:R343I	R	+	2	0	SORL1	120889010	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.191000	0.50981	1.174000	0.42811	0.655000	0.94253	AGA	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387626.2		+	ENST00000260197.7	Missense_Mutation	SNP	11 : 121383800 - 121383800 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	486	89
PCNT	5116	broad.mit.edu	37	21	47831953	47831953	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47831953C>A	ENST00000359568.5	+	28	6073	c.5966C>A	c.(5965-5967)gCt>gAt	p.A1989D	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1989					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CATGATGCTGCTTTGGAGCCG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	26	25			NA	NA	21		NA											NA				47831953		2188	4260	6448	SO:0001583	missense			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299	5116	5116			16068	protein-coding gene	gene with protein product	kendrin, Seckel syndrome 4	605925	pericentrin 2 (kendrin)	PCNT2	NA	8812505, 9455477	Standard	NM_006031	NM_006031	NA	Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.5966C>A	21.37:g.47831953C>A	ENSP00000352572:p.Ala1989Asp	NA	O43152|Q7Z7C9	37	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	5.390	0.257216	0.10239	.	.	ENSG00000160299	ENST00000359568	T	0.01584	4.75	2.89	-3.84	0.04256	.	.	.	.	.	T	0.01320	0.0043	N	0.22421	0.69	0.09310	N	1	D;B	0.53745	0.962;0.0	P;B	0.45099	0.469;0.001	T	0.45425	-0.9262	9	0.13470	T	0.59	.	5.4084	0.16335	0.0:0.2433:0.5103:0.2463	.	1871;1989	O95613-2;O95613	.;PCNT_HUMAN	D	1989	ENSP00000352572:A1989D	ENSP00000352572:A1989D	A	+	2	0	PCNT	46656381	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.840000	0.01684	-0.580000	0.05944	-0.373000	0.07131	GCT	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207336.1		+	ENST00000359568.5	Missense_Mutation	SNP	21 : 47831953 - 47831953 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	256	55
CHRNB4	1143	broad.mit.edu	37	15	78921375	78921375	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78921375C>T	ENST00000412074.2	-	4	471				CHRNB4_ENST00000261751.3_Silent_p.V424V	NM_001256567.1	NP_001243496.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	NA					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.V424V(1)		endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						ATGCCTCCTGCACATCCTGTC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	endometrium(1)											72	66	68			NA	NA	15		NA											NA				78921375		2196	4293	6489	SO:0001627	intron_variant			U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971	1143	1143		Cholinergic receptors, Ligand-gated ion channels / Acetylcholine receptors, nicotinic	1964	protein-coding gene	gene with protein product	acetylcholine receptor, nicotinic, beta 4 (neuronal)	118509	cholinergic receptor, nicotinic, beta polypeptide 4		NA	2004777	Standard		NM_000750	NA	Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000412074.2:c.359+2042G>A	15.37:g.78921375C>T		NA	Q16607|Q4VBA5|Q8WXC8|Q9BQR4	37	CCDS58392.1																																																																																			CHRNB4-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418869.1		-	ENST00000412074.2	Intron	SNP	15 : 78921375 - 78921375 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	76
PCNT	5116	broad.mit.edu	37	21	47851714	47851714	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47851714G>A	ENST00000359568.5	+	38	8443	c.8336G>A	c.(8335-8337)tGc>tAc	p.C2779Y	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2779					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CAGGAGGCTTGCGTGCACCAG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	35	35			NA	NA	21		NA											NA				47851714		2203	4300	6503	SO:0001583	missense			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299	5116	5116			16068	protein-coding gene	gene with protein product	kendrin, Seckel syndrome 4	605925	pericentrin 2 (kendrin)	PCNT2	NA	8812505, 9455477	Standard	NM_006031	NM_006031	NA	Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.8336G>A	21.37:g.47851714G>A	ENSP00000352572:p.Cys2779Tyr	NA	O43152|Q7Z7C9	37	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	9.009	0.981997	0.18812	.	.	ENSG00000160299	ENST00000359568	T	0.10960	2.82	3.24	3.24	0.37175	.	.	.	.	.	T	0.22551	0.0544	L	0.54323	1.7	0.09310	N	0.999997	D;D	0.69078	0.997;0.991	D;P	0.73380	0.98;0.687	T	0.08513	-1.0718	9	0.06099	T	0.92	.	13.8003	0.63196	0.0:0.0:1.0:0.0	.	2661;2779	O95613-2;O95613	.;PCNT_HUMAN	Y	2779	ENSP00000352572:C2779Y	ENSP00000352572:C2779Y	C	+	2	0	PCNT	46676142	0.830000	0.29337	0.778000	0.31720	0.009000	0.06853	2.827000	0.48112	1.549000	0.49425	0.563000	0.77884	TGC	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207336.1		+	ENST00000359568.5	Missense_Mutation	SNP	21 : 47851714 - 47851714 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	166	18
SUN1	23353	broad.mit.edu	37	7	881707	881707	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:881707C>T	ENST00000405266.1	+	3	415	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W	SUN1_ENST00000452783.2_Missense_Mutation_p.R131W|SUN1_ENST00000469755.1_3'UTR|SUN1_ENST00000389574.3_Missense_Mutation_p.R81W|SUN1_ENST00000425407.2_Missense_Mutation_p.R81W|SUN1_ENST00000456758.2_Missense_Mutation_p.R189W|SUN1_ENST00000401592.1_Missense_Mutation_p.R131W|SUN1_ENST00000403868.1_Missense_Mutation_p.R131W|SUN1_ENST00000457378.2_Missense_Mutation_p.R152W			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	131	LMNA-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGTGACTCGACGGCCTCCTGT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	82	81			NA	NA	7		NA											NA				881707		2093	4222	6315	SO:0001583	missense			AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828	23353	23353			18587	protein-coding gene	gene with protein product	Sad1 unc-84 domain protein 1	607723	unc-84 homolog A (C. elegans)	UNC84A	NA	11593002	Standard	NM_025154	NM_001130965	NA	Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.391C>T	7.37:g.881707C>T	ENSP00000384116:p.Arg131Trp	NA	B3KMV7|B7WNY4|B7WP53|Q96CZ7|Q9HA14|Q9UH98	37		.	.	.	.	.	.	.	.	.	.	C	16.89	3.248255	0.59103	.	.	ENSG00000164828	ENST00000456758;ENST00000389574;ENST00000457378;ENST00000452783;ENST00000435699;ENST00000439679;ENST00000405266;ENST00000401592;ENST00000403868;ENST00000297445;ENST00000425407;ENST00000450881	T;T;T;T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.55	2.37	0.29283	.	1.239010	0.05371	N	0.535383	T	0.62307	0.2417	L	0.60455	1.87	0.09310	N	1	D;D;D;D;D	0.89917	0.964;1.0;1.0;0.993;0.98	P;D;D;P;P	0.75484	0.536;0.939;0.986;0.685;0.502	T	0.35001	-0.9806	10	0.54805	T	0.06	-19.1256	4.5681	0.12196	0.3475:0.4667:0.1049:0.0809	.	131;131;152;81;131	E9PDU4;E9PF23;F8WD13;O94901-5;O94901-3	.;.;.;.;.	W	189;81;152;131;131;131;131;131;131;131;81;106	ENSP00000388743:R189W;ENSP00000374225:R81W;ENSP00000395952:R152W;ENSP00000413439:R131W;ENSP00000388430:R131W;ENSP00000413188:R131W;ENSP00000384116:R131W;ENSP00000384015:R131W;ENSP00000383947:R131W;ENSP00000392309:R81W;ENSP00000392595:R106W	ENSP00000297445:R131W	R	+	1	2	SUN1	848233	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.225000	0.09151	0.668000	0.31126	0.563000	0.77884	CGG	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000322566.1		+	ENST00000405266.1	Missense_Mutation	SNP	7 : 881707 - 881707 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	327	64
ALDH16A1	126133	broad.mit.edu	37	19	49965961	49965961	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49965961A>G	ENST00000293350.4	+	8	1210	c.1047A>G	c.(1045-1047)gcA>gcG	p.A349A	ALDH16A1_ENST00000433981.2_Silent_p.A184A|ALDH16A1_ENST00000455361.2_Silent_p.A298A|ALDH16A1_ENST00000540132.1_Silent_p.A186A	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	349							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GGGCTGCCGCATGTGACCTGG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	26	25			NA	NA	19		NA											NA				49965961		2202	4299	6501	SO:0001819	synonymous_variant			AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618	126133	126133		Aldehyde dehydrogenases	28114	protein-coding gene	gene with protein product		613358			NA		Standard	NM_153329	NM_153329	NA	Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.1047A>G	19.37:g.49965961A>G		NA	C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	37	CCDS12766.1																																																																																			ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465358.1		+	ENST00000293350.4	Silent	SNP	19 : 49965961 - 49965961 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	328	55
DPP10	57628	broad.mit.edu	37	2	116101424	116101424	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:116101424G>A	ENST00000410059.1	+	3	687	c.207G>A	c.(205-207)ttG>ttA	p.L69L	DPP10_ENST00000310323.8_Silent_p.L62L|DPP10_ENST00000409163.1_Silent_p.L19L|DPP10_ENST00000393147.2_Silent_p.L73L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	69					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AAACCAGATTGTCTTTGGAAG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	96	94			NA	NA	2		NA											NA				116101424		2203	4300	6503	SO:0001819	synonymous_variant			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497	57628	57628			20823	protein-coding gene	gene with protein product		608209	dipeptidylpeptidase 10, dipeptidyl-peptidase 10		NA	10819331, 12662155	Standard	NM_020868	NM_020868	NA	Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.207G>A	2.37:g.116101424G>A		NA	A8K1Q2|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	37	CCDS46400.1																																																																																			DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330580.4		+	ENST00000410059.1	Silent	SNP	2 : 116101424 - 116101424 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	474	90
CNOT4	4850	broad.mit.edu	37	7	135095279	135095279	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135095279C>T	ENST00000428680.2	-	7	1086	c.807G>A	c.(805-807)ctG>ctA	p.L269L	CNOT4_ENST00000361528.4_Silent_p.L269L|CNOT4_ENST00000541284.1_Silent_p.L269L|CNOT4_ENST00000414802.1_Silent_p.L269L|CNOT4_ENST00000451834.1_Silent_p.L269L|CNOT4_ENST00000423368.2_Silent_p.L269L|CNOT4_ENST00000356162.4_Silent_p.L269L|CNOT4_ENST00000315544.5_Silent_p.L269L	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	269					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						CATACCTCTGCAGTGGTGTCA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(51;766 1130 5502 35047 50875)							NA				0													128	127	128			NA	NA	7		NA											NA				135095279		1867	4094	5961	SO:0001819	synonymous_variant			AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802	4850	4850		RNA binding motif (RRM) containing	7880	protein-coding gene	gene with protein product		604911		NOT4	NA	10637334	Standard	NM_013316	NM_013316	NA	Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000428680.2:c.807G>A	7.37:g.135095279C>T		NA	O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	37	CCDS47719.1																																																																																			CNOT4-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340669.1		-	ENST00000428680.2	Silent	SNP	7 : 135095279 - 135095279 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	472	63
SPATA5	166378	broad.mit.edu	37	4	124177323	124177323	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:124177323C>A	ENST00000274008.4	+	15	2562	c.2493C>A	c.(2491-2493)taC>taA	p.Y831*		NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	NA					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						CCGACGCATACTCAGGAGCAG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	99	102			NA	NA	4		NA											NA				124177323		2203	4300	6503	SO:0001587	stop_gained			AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375	166378	166378		ATPases / AAA-type	18119	protein-coding gene	gene with protein product	ATPase family gene 2 homolog (S. cerevisiae)	613940			NA	16465403	Standard	NM_145207	NM_145207	NA	Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.2493C>A	4.37:g.124177323C>A	ENSP00000274008:p.Tyr831*	NA	C9JT97|Q86XW1|Q8NI20|Q8TDL7	37	CCDS3730.1	.	.	.	.	.	.	.	.	.	.	C	36	5.648096	0.96714	.	.	ENSG00000145375	ENST00000274008	.	.	.	4.7	0.182	0.15077	.	0.000000	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-48.753	9.981	0.41813	0.0:0.4256:0.0:0.5744	.	.	.	.	X	831	.	ENSP00000274008:Y831X	Y	+	3	2	SPATA5	124396773	0.872000	0.30054	0.972000	0.41901	0.401000	0.30781	-0.155000	0.10115	0.070000	0.16634	0.557000	0.71058	TAC	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256714.2		+	ENST00000274008.4	Nonsense_Mutation	SNP	4 : 124177323 - 124177323 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	384	75
OTUD7B	56957	broad.mit.edu	37	1	149939428	149939428	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149939428C>T	ENST00000369135.4	-	4	587	c.293G>A	c.(292-294)gGc>gAc	p.G98D	OTUD7B_ENST00000479905.1_Intron	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	NA					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GTGGGAGATGCCCCTAGACAG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	51	49			NA	NA	1		NA											NA				149939428		1958	4155	6113	SO:0001583	missense			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522	56957	56957		OTU domain containing	16683	protein-coding gene	gene with protein product		611748	zinc finger, A20 domain containing 1, OTU domain containing 7B	ZA20D1	NA	11463333, 23827681	Standard	NM_020205	NM_020205	NA	Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.293G>A	1.37:g.149939428C>T	ENSP00000358131:p.Gly98Asp	NA	D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	37	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282575	0.80692	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.39997	1.05;1.26	5.25	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.52500	0.1738	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56232	-0.8013	9	.	.	.	-35.5759	13.1151	0.59295	0.0:0.9234:0.0:0.0766	.	98	Q6GQQ9	OTU7B_HUMAN	D	98	ENSP00000358131:G98D;ENSP00000408231:G98D	.	G	-	2	0	OTUD7B	148206052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	1.454000	0.47793	0.557000	0.71058	GGC	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034146.3		-	ENST00000369135.4	Missense_Mutation	SNP	1 : 149939428 - 149939428 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	357	58
MC3R	4159	broad.mit.edu	37	20	54824572	54824572	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54824572C>T	ENST00000243911.2	+	1	785	c.673C>T	c.(673-675)Cca>Tca	p.P225S		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	262					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			AGCAGCACTGCCACCTGCCGA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													189	126	147			NA	NA	20		NA											NA				54824572		2203	4300	6503	SO:0001583	missense				CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089	4159	4159		GPCR / Class A : Melanocortin receptors	6931	protein-coding gene	gene with protein product		155540			NA	8463333	Standard		NM_019888	NA	Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.673C>T	20.37:g.54824572C>T	ENSP00000243911:p.Pro225Ser	NA	Q4KN27|Q9H517	37	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274576	0.59649	.	.	ENSG00000124089	ENST00000243911	T	0.70869	-0.52	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.81465	0.4828	L	0.56340	1.77	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.82263	-0.0544	10	0.51188	T	0.08	.	17.7079	0.88313	0.0:1.0:0.0:0.0	.	262	P41968	MC3R_HUMAN	S	225	ENSP00000243911:P225S	ENSP00000243911:P225S	P	+	1	0	MC3R	54257979	1.000000	0.71417	0.983000	0.44433	0.222000	0.24845	7.624000	0.83124	2.259000	0.74868	0.555000	0.69702	CCA	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079786.2		+	ENST00000243911.2	Missense_Mutation	SNP	20 : 54824572 - 54824572 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	394	78
HEPHL1	341208	broad.mit.edu	37	11	93815642	93815642	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93815642G>A	ENST00000315765.9	+	10	1783	c.1775G>A	c.(1774-1776)aGa>aAa	p.R592K		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	592	Plastocyanin-like 4.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AATCTGAGCAGATATTTTGAT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	78	80			NA	NA	11		NA											NA				93815642		1832	4086	5918	SO:0001583	missense			BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333	341208	341208			30477	protein-coding gene	gene with protein product					NA		Standard	XM_291947	NM_001098672	NA	Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.1775G>A	11.37:g.93815642G>A	ENSP00000313699:p.Arg592Lys	NA	Q3C1W7	37	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967790	0.53507	.	.	ENSG00000181333	ENST00000315765	D	0.99745	-6.61	5.59	4.49	0.54785	Cupredoxin (2);	0.400573	0.30036	N	0.010571	D	0.98292	0.9434	L	0.29908	0.895	0.23563	N	0.997405	B	0.14438	0.01	B	0.17098	0.017	D	0.95455	0.8538	10	0.54805	T	0.06	.	11.0203	0.47713	0.0777:0.0:0.79:0.1323	.	592	Q6MZM0	HPHL1_HUMAN	K	592	ENSP00000313699:R592K	ENSP00000313699:R592K	R	+	2	0	HEPHL1	93455290	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.150000	0.64869	2.628000	0.89032	0.655000	0.94253	AGA	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396103.2		+	ENST00000315765.9	Missense_Mutation	SNP	11 : 93815642 - 93815642 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	149	27
CARD11	84433	broad.mit.edu	37	7	2952980	2952980	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2952980G>A	ENST00000396946.4	-	22	3363	c.2960C>T	c.(2959-2961)aCg>aTg	p.T987M		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	987	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CTGCACCAGCGTCTTGGCCAG	0.672		NA	Mis		DLBCL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		7	7p22	84433	caspase recruitment domain family, member 11		L	0								G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	65	66	65		2960	4.4	1	7		65	0,8598		0,0,4299	no	missense	CARD11	NM_032415.4	81	0,1,6501	AA,AG,GG	NA	0.0,0.0227,0.0077	benign	987/1155	2952980	1,13003	2203	4299	6502	SO:0001583	missense			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286	84433	84433			16393	protein-coding gene	gene with protein product	card-maguk protein 1, bcl10-interacting maguk protein 3	607210			NA	11278692, 11356195	Standard	NM_032415	NM_032415	NA	Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2960C>T	7.37:g.2952980G>A	ENSP00000380150:p.Thr987Met	NA	A4D1Z7|Q2NKN7|Q548H3	37	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638367	0.29157	2.27E-4	0.0	ENSG00000198286	ENST00000396946	T	0.31769	1.48	4.36	4.36	0.52297	.	0.307048	0.30556	N	0.009370	T	0.17280	0.0415	N	0.08118	0	0.44092	D	0.996857	P	0.35050	0.482	B	0.37047	0.24	T	0.09164	-1.0687	10	0.44086	T	0.13	-21.0385	10.5667	0.45177	0.0894:0.0:0.9106:0.0	.	987	Q9BXL7	CAR11_HUMAN	M	987	ENSP00000380150:T987M	ENSP00000380150:T987M	T	-	2	0	CARD11	2919506	1.000000	0.71417	1.000000	0.80357	0.206000	0.24218	5.970000	0.70431	1.985000	0.57927	0.484000	0.47621	ACG	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059344.4		-	ENST00000396946.4	Missense_Mutation	SNP	7 : 2952980 - 2952980 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	654	130
EFCAB6	64800	broad.mit.edu	37	22	43936061	43936061	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43936061G>A	ENST00000262726.7	-	28	4078	c.3825C>T	c.(3823-3825)ctC>ctT	p.L1275L	EFCAB6_ENST00000396231.2_Silent_p.L1123L|EFCAB6_ENST00000461800.1_5'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TGGGCAATGAGAGGGCAGATC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	87	92			NA	NA	22		NA											NA				43936061		2203	4300	6503	SO:0001819	synonymous_variant			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976	64800	64800		EF-hand domain containing	24204	protein-coding gene	gene with protein product					NA	11258795, 12612053	Standard	NM_022785	NM_022785	NA	Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.3825C>T	22.37:g.43936061G>A		NA	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	37	CCDS14049.1																																																																																			EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353176.1		-	ENST00000262726.7	Silent	SNP	22 : 43936061 - 43936061 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	374	59
FASN	2194	broad.mit.edu	37	17	80050687	80050687	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80050687G>A	ENST00000306749.2	-	7	998	c.780C>T	c.(778-780)ggC>ggT	p.G260G		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	260	Beta-ketoacyl synthase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GGAAGGTCACGCCTGCGGAGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(59;314 1043 11189 28578 32273)							NA				0													26	28	27			NA	NA	17		NA											NA				80050687		2175	4279	6454	SO:0001630	splice_region_variant			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2194	2194	2.3.1.85	Short chain dehydrogenase/reductase superfamily / Atypical members	3594	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 27X, member 1	600212			NA	7835891, 7567999, 19027726	Standard	NM_004104	NM_004104	NA	Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.779-1C>T	17.37:g.80050687G>A		NA	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	37	CCDS11801.1																																																																																			FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442369.1	Silent	-	ENST00000306749.2	Splice_Site	SNP	17 : 80050687 - 80050687 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	74	17
SCN10A	6336	broad.mit.edu	37	3	38781150	38781150	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38781150C>T	ENST00000449082.2	-	14	2135	c.2136G>A	c.(2134-2136)atG>atA	p.M712I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	712					sensory perception	voltage-gated sodium channel complex		p.M712I(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TTTTGAAGACCATTTCAGCAG	0.433		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)											59	56	57			NA	NA	3		NA											NA				38781150		2203	4300	6503	SO:0001583	missense			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313	6336	6336		Sodium channels, Voltage-gated ion channels / Sodium channels	10582	protein-coding gene	gene with protein product		604427	sodium channel, voltage-gated, type X, alpha polypeptide		NA	9839820, 10198179, 16382098	Standard	NM_006514	NM_006514	NA	Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2136G>A	3.37:g.38781150C>T	ENSP00000390600:p.Met712Ile	NA	A6NDQ1	37	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530513	0.85706	.	.	ENSG00000185313	ENST00000449082	D	0.97186	-4.28	4.19	3.31	0.37934	Ion transport (1);	0.043664	0.85682	N	0.000000	D	0.96207	0.8763	M	0.79123	2.44	0.43798	D	0.996347	P	0.41498	0.752	B	0.41691	0.364	D	0.95374	0.8467	10	0.87932	D	0	.	11.8844	0.52594	0.0:0.9142:0.0:0.0858	.	712	Q9Y5Y9	SCNAA_HUMAN	I	712	ENSP00000390600:M712I	ENSP00000390600:M712I	M	-	3	0	SCN10A	38756154	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.565000	0.82337	0.975000	0.38392	0.655000	0.94253	ATG	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109745.3		-	ENST00000449082.2	Missense_Mutation	SNP	3 : 38781150 - 38781150 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	301	42
AHNAK	79026	broad.mit.edu	37	11	62290929	62290929	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62290929G>T	ENST00000378024.4	-	5	11234	c.10960C>A	c.(10960-10962)Ctg>Atg	p.L3654M	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3654					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGGCCCTTCAGCTTTGCATCT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													208	214	212			NA	NA	11		NA											NA				62290929		2202	4299	6501	SO:0001583	missense			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942	79026	79026			347	protein-coding gene	gene with protein product	desmoyokin	103390	AHNAK nucleoprotein (desmoyokin)		NA	7987395, 12153988	Standard	NM_024060	NM_024060	NA	Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.10960C>A	11.37:g.62290929G>T	ENSP00000367263:p.Leu3654Met	NA		37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	11.85	1.760746	0.31137	.	.	ENSG00000124942	ENST00000378024	T	0.01397	4.94	5.16	0.884	0.19182	.	1.419600	0.05322	N	0.526753	T	0.03305	0.0096	M	0.88775	2.98	0.20403	N	0.99991	P	0.37663	0.604	B	0.36134	0.218	T	0.43861	-0.9365	10	0.38643	T	0.18	-6.531	2.8861	0.05661	0.2244:0.1249:0.5235:0.1273	.	3654	Q09666	AHNK_HUMAN	M	3654	ENSP00000367263:L3654M	ENSP00000367263:L3654M	L	-	1	2	AHNAK	62047505	0.000000	0.05858	0.287000	0.24848	0.643000	0.38383	-2.341000	0.01100	0.482000	0.27582	0.579000	0.79373	CTG	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395572.1		-	ENST00000378024.4	Missense_Mutation	SNP	11 : 62290929 - 62290929 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1280	321
SGK223	0	broad.mit.edu	37	8	8175943	8175943	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:8175943G>T	ENST00000520004.1	-	6	4206	c.3942C>A	c.(3940-3942)atC>atA	p.I1314I	SGK223_ENST00000330777.4_Silent_p.I1314I			Q86YV5	SG223_HUMAN		1314	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity				NA						TGGCCTCGCCGATGCGGATAC	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(34;731 755 10259 33573 33867)							NA				0													25	28	27			NA	NA	8		NA											NA				8175943		2041	4178	6219	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000520004.1:c.3942C>A	8.37:g.8175943G>T		NA	Q8N3N5	37	CCDS43706.1																																																																																			SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374864.1		-	ENST00000520004.1	Silent	SNP	8 : 8175943 - 8175943 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	403	76
KCNC4	3749	broad.mit.edu	37	1	110766507	110766507	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110766507G>A	ENST00000413138.3	+	2	1608	c.1600G>A	c.(1600-1602)Gag>Aag	p.E534K	KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000369787.3_Missense_Mutation_p.E534K|KCNC4_ENST00000438661.2_Missense_Mutation_p.E534K			Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	534					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGGTATGATCGAGAGGAAACG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	56	54			NA	NA	1		NA											NA				110766507		2203	4300	6503	SO:0001583	missense			BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396	3749	3749		Potassium channels, Voltage-gated ion channels / Potassium channels	6236	protein-coding gene	gene with protein product		176265	chromosome 1 open reading frame 30	C1orf30	NA	1920536, 1740329, 16382104	Standard	NM_001039574	NM_004978	NA	Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000413138.3:c.1600G>A	1.37:g.110766507G>A	ENSP00000388029:p.Glu534Lys	NA	Q3MIM4|Q5TBI6	37		.	.	.	.	.	.	.	.	.	.	G	14.39	2.520122	0.44866	.	.	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	D;D;D	0.97772	-4.53;-4.48;-4.48	5.03	4.12	0.48240	.	1.876610	0.02862	N	0.130416	D	0.94820	0.8327	M	0.67397	2.05	0.36759	D	0.883189	B;B;P	0.34892	0.12;0.155;0.474	B;B;B	0.24269	0.009;0.014;0.052	D	0.86509	0.1808	10	0.52906	T	0.07	.	13.4512	0.61172	0.0775:0.0:0.9225:0.0	.	534;534;534	Q03721;Q03721-3;Q03721-2	KCNC4_HUMAN;.;.	K	534	ENSP00000358802:E534K;ENSP00000388029:E534K;ENSP00000393655:E534K	ENSP00000358802:E534K	E	+	1	0	KCNC4	110568030	1.000000	0.71417	0.846000	0.33378	0.942000	0.58702	3.378000	0.52432	1.268000	0.44264	0.462000	0.41574	GAG	KCNC4-006	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000390341.1		+	ENST00000413138.3	Missense_Mutation	SNP	1 : 110766507 - 110766507 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	274	31
IKZF1	10320	broad.mit.edu	37	7	50468219	50468219	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50468219G>T	ENST00000331340.3	+	8	1609	c.1454G>T	c.(1453-1455)gGc>gTc	p.G485V	IKZF1_ENST00000439701.1_Missense_Mutation_p.G443V|IKZF1_ENST00000357364.4_Missense_Mutation_p.G398V|IKZF1_ENST00000343574.5_Missense_Mutation_p.G398V|IKZF1_ENST00000438033.1_Missense_Mutation_p.G398V|IKZF1_ENST00000359197.5_Missense_Mutation_p.G443V|IKZF1_ENST00000346667.4_Missense_Mutation_p.G255V|IKZF1_ENST00000349824.4_Missense_Mutation_p.G342V|IKZF1_ENST00000440768.2_3'UTR	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	485					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)|p.G485D(1)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GGCTGCCACGGCTTCCGTGAT	0.587		NA	D,T	BCL6	ALL, DLBCL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec,Dom	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	29	Unknown(28)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(28)|large_intestine(1)											48	55	52			NA	NA	7		NA											NA				50468219		2192	4296	6488	SO:0001583	missense			U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811	10320	10320		Zinc fingers, C2H2-type, IKAROS zinc fingers	13176	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 92	603023	zinc finger protein, subfamily 1A, 1 (Ikaros)	ZNFN1A1	NA	1439790, 7935426	Standard	NM_006060	NM_006060	NA	Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.1454G>T	7.37:g.50468219G>T	ENSP00000331614:p.Gly485Val	NA	A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q8WVA3	37		.	.	.	.	.	.	.	.	.	.	G	31	5.065362	0.93898	.	.	ENSG00000185811	ENST00000346667;ENST00000343574;ENST00000359197;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000438033;ENST00000439701	T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.69214	0.3086	.	.	.	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.71748	-0.4499	9	0.72032	D	0.01	-5.2298	19.9376	0.97146	0.0:0.0:1.0:0.0	.	398;255;398;443;485	Q13422-2;Q13422-6;Q13422-3;Q13422-7;Q13422	.;.;.;.;IKZF1_HUMAN	V	255;398;443;342;398;485;398;443	ENSP00000340080:G255V;ENSP00000342750:G398V;ENSP00000352123:G443V;ENSP00000342485:G342V;ENSP00000349928:G398V;ENSP00000331614:G485V;ENSP00000396554:G398V;ENSP00000413025:G443V	ENSP00000331614:G485V	G	+	2	0	IKZF1	50435713	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.899000	0.87370	2.711000	0.92665	0.655000	0.94253	GGC	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000342242.1		+	ENST00000331340.3	Missense_Mutation	SNP	7 : 50468219 - 50468219 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	256	47
ADCY3	109	broad.mit.edu	37	2	25057670	25057670	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25057670C>T	ENST00000405392.1	-	7	876	c.697G>A	c.(697-699)Gcc>Acc	p.A233T	ADCY3_ENST00000260600.5_Missense_Mutation_p.A600T			O60266	ADCY3_HUMAN	adenylate cyclase 3	600					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TACACTTGGGCGGACTCTCGC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	46	46			NA	NA	2		NA											NA				25057670		2203	4300	6503	SO:0001583	missense			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	109	109	4.6.1.1	Adenylate cyclases	234	protein-coding gene	gene with protein product		600291			NA	9920776	Standard		NM_004036	NA	Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000405392.1:c.697G>A	2.37:g.25057670C>T	ENSP00000384484:p.Ala233Thr	NA	Q53T54|Q9UDB1	37		.	.	.	.	.	.	.	.	.	.	C	17.47	3.397356	0.62177	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879	T;T	0.43688	0.94;0.94	5.18	5.18	0.71444	.	0.261189	0.37095	N	0.002250	T	0.18002	0.0432	N	0.08118	0	0.40094	D	0.976298	P;P;P	0.44776	0.751;0.843;0.751	B;B;B	0.24394	0.037;0.037;0.053	T	0.15896	-1.0421	10	0.14252	T	0.57	.	17.2636	0.87078	0.0:1.0:0.0:0.0	.	600;600;233	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	T	600;233;575	ENSP00000260600:A600T;ENSP00000384484:A233T	ENSP00000260600:A600T	A	-	1	0	ADCY3	24911174	0.999000	0.42202	0.943000	0.38184	0.969000	0.65631	4.132000	0.57977	2.413000	0.81919	0.655000	0.94253	GCC	ADCY3-201	KNOWN	basic|exp_conf	protein_coding	NA	protein_coding			-	ENST00000405392.1	Missense_Mutation	SNP	2 : 25057670 - 25057670 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	13
GNAQ	2776	broad.mit.edu	37	9	80412494	80412494	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:80412494G>A	ENST00000286548.4	-	4	769	c.547C>T	c.(547-549)Cga>Tga	p.R183*	GNAQ_ENST00000397476.3_5'UTR	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	183					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.R183*(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						GTGGGGACTCGAACTCTAAGC	0.468		NA	Mis		uveal melanoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		9	9q21	2776	guanine nucleotide binding protein (G protein), q polypeptide		E	1	Substitution - Nonsense(1)	large_intestine(1)											155	118	131			NA	NA	9		NA											NA				80412494		2203	4300	6503	SO:0001587	stop_gained				CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052	2776	2776			4390	protein-coding gene	gene with protein product		600998			NA	8825633	Standard	NM_002072	NM_002072	NA	Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.547C>T	9.37:g.80412494G>A	ENSP00000286548:p.Arg183*	NA	O15108|Q13462|Q6NT27|Q92471|Q9BZB9	37	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	G	38	6.792681	0.97841	.	.	ENSG00000156052	ENST00000286548;ENST00000411677	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2279	0.98344	0.0:0.0:1.0:0.0	.	.	.	.	X	183;154	.	ENSP00000286548:R183X	R	-	1	2	GNAQ	79602314	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.582000	0.74049	2.778000	0.95560	0.655000	0.94253	CGA	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052761.1		-	ENST00000286548.4	Nonsense_Mutation	SNP	9 : 80412494 - 80412494 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	276	91
C1QL3	389941	broad.mit.edu	37	10	16556588	16556588	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16556588G>T	ENST00000298943.3	-	2	1646	c.707C>A	c.(706-708)gCc>gAc	p.A236D		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	236	C1q.					collagen				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TCCTCCATGGGCTTTCCCGCC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	142	146			NA	NA	10		NA											NA				16556588		2203	4300	6503	SO:0001583	missense				CCDS31156.1	10p13	2012-03-26			ENSG00000165985	ENSG00000165985	389941	389941			19359	protein-coding gene	gene with protein product		615227			NA	21378161	Standard	XM_372305	NM_001010908	NA	Approved	K100, C1ql, C1QTNF13, CTRP13	uc001ioj.1	Q5VWW1	OTTHUMG00000017738	ENST00000298943.3:c.707C>A	10.37:g.16556588G>T	ENSP00000298943:p.Ala236Asp	NA	A0PJY4|A0PJY5	37	CCDS31156.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012318	0.54468	.	.	ENSG00000165985	ENST00000298943;ENST00000448557	T	0.75589	-0.95	5.71	4.81	0.61882	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	T	0.80116	0.4564	L	0.46614	1.455	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.75858	-0.3169	10	0.15952	T	0.53	.	14.6519	0.68803	0.0698:0.0:0.9302:0.0	.	236	Q5VWW1	C1QL3_HUMAN	D	236;213	ENSP00000298943:A236D	ENSP00000298943:A236D	A	-	2	0	C1QL3	16596594	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	1.428000	0.47296	0.655000	0.94253	GCC	C1QL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047003.1		-	ENST00000298943.3	Missense_Mutation	SNP	10 : 16556588 - 16556588 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	546	94
EPHA10	284656	broad.mit.edu	37	1	38227628	38227628	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38227628C>T	ENST00000373048.4	-	3	298	c.299G>A	c.(298-300)cGc>cAc	p.R100H	EPHA10_ENST00000319637.6_Missense_Mutation_p.R100H|EPHA10_ENST00000427468.2_Missense_Mutation_p.R100H	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	100						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACGAAGATGCGCTGCCCGCG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	86	88			NA	NA	1		NA											NA				38227628		2203	4300	6503	SO:0001583	missense			AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317	284656	284656		EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	19987	protein-coding gene	gene with protein product		611123			NA	12477932	Standard	NM_173641	NM_001099439	NA	Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.299G>A	1.37:g.38227628C>T	ENSP00000362139:p.Arg100His	NA	A4FU89|Q6NW42	37	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867428	0.91511	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.06449	3.3;3.3;3.3	4.47	4.47	0.54385	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.40728	N	0.001040	T	0.29389	0.0732	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.11494	-1.0585	10	0.87932	D	0	.	16.6276	0.84975	0.0:1.0:0.0:0.0	.	100;100	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	H	100	ENSP00000397746:R100H;ENSP00000362139:R100H;ENSP00000316395:R100H	ENSP00000316395:R100H	R	-	2	0	EPHA10	38000215	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.593000	0.82686	2.448000	0.82819	0.549000	0.68633	CGC	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000012497.2		-	ENST00000373048.4	Missense_Mutation	SNP	1 : 38227628 - 38227628 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	790	86
MAP4	4134	broad.mit.edu	37	3	47912583	47912583	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47912583C>T	ENST00000426837.2	-	15	6101	c.6014G>A	c.(6013-6015)cGc>cAc	p.R2005H	MAP4_ENST00000395734.3_Missense_Mutation_p.R860H|MAP4_ENST00000264724.11_Missense_Mutation_p.R595H|MAP4_ENST00000360240.6_Missense_Mutation_p.R860H|MAP4_ENST00000420772.2_Missense_Mutation_p.R591H|MAP4_ENST00000383737.4_Missense_Mutation_p.R588H|MAP4_ENST00000441748.2_Missense_Mutation_p.R12H			P27816	MAP4_HUMAN	microtubule-associated protein 4	860					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		GCTCTTTGGGCGACTCAAGTC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	72	77	76		2579,2579	3.9	0.7	3		76	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MAP4	NM_001134364.1,NM_002375.4	29,29	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging	860/1136,860/1153	47912583	1,13005	2203	4300	6503	SO:0001583	missense				CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849	4134	4134			6862	protein-coding gene	gene with protein product		157132			NA	1905296	Standard	NM_002375	NM_002375	NA	Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000426837.2:c.6014G>A	3.37:g.47912583C>T	ENSP00000407602:p.Arg2005His	NA	Q13082|Q59FT2|Q68D74|Q6ZUW9|Q96A76|Q96NS9	37		.	.	.	.	.	.	.	.	.	.	C	23.6	4.432443	0.83776	0.0	1.16E-4	ENSG00000047849	ENST00000383737;ENST00000264724;ENST00000395734;ENST00000426837;ENST00000360240;ENST00000420772;ENST00000335271;ENST00000441748;ENST00000383736	T;T;T;T;T;T;T;T	0.36157	2.82;1.3;2.93;3.09;2.92;2.08;2.0;1.27	5.65	3.88	0.44766	.	.	.	.	.	T	0.57695	0.2071	M	0.72894	2.215	0.25677	N	0.985832	D;D;D;D;D;B	0.89917	1.0;1.0;1.0;1.0;1.0;0.066	D;D;D;D;D;B	0.97110	0.995;1.0;1.0;0.999;0.999;0.01	T	0.49707	-0.8911	9	0.66056	D	0.02	-1.0124	11.2513	0.49028	0.0:0.8533:0.0:0.1467	.	591;595;860;860;595;588	F8W9U4;P27816-4;P27816-6;P27816;E9PGM5;B9ZVR1	.;.;.;MAP4_HUMAN;.;.	H	588;595;860;2005;860;591;226;12;595	ENSP00000373243:R588H;ENSP00000264724:R595H;ENSP00000379083:R860H;ENSP00000407602:R2005H;ENSP00000353375:R860H;ENSP00000409731:R591H;ENSP00000334770:R226H;ENSP00000415130:R12H	ENSP00000264724:R595H	R	-	2	0	MAP4	47887587	1.000000	0.71417	0.705000	0.30386	0.968000	0.65278	4.674000	0.61612	0.754000	0.32968	0.655000	0.94253	CGC	MAP4-005	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000346089.2		-	ENST00000426837.2	Missense_Mutation	SNP	3 : 47912583 - 47912583 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	562	111
OR2G6	391211	broad.mit.edu	37	1	248685389	248685389	+	Missense_Mutation	SNP	G	G	A	rs138151830		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248685389G>A	ENST00000343414.4	+	1	474	c.442G>A	c.(442-444)Gca>Aca	p.A148T		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A148T(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGCCGGTGGAGCATGGCTCAG	0.577		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)											71	56	61			NA	NA	1		NA											NA				248685389		2203	4300	6503	SO:0001583	missense				CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558	391211	391211		GPCR / Class A : Olfactory receptors	27019	protein-coding gene	gene with protein product					NA		Standard	XM_372842	NM_001013355	NA	Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.442G>A	1.37:g.248685389G>A	ENSP00000341291:p.Ala148Thr	NA	B2RP33	37	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	11.10	1.538821	0.27475	.	.	ENSG00000188558	ENST00000343414	T	0.37584	1.19	3.46	2.47	0.30058	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40908	U	0.000985	T	0.40719	0.1128	L	0.38733	1.17	0.09310	N	1	D	0.64830	0.994	D	0.66351	0.943	T	0.05666	-1.0871	10	0.49607	T	0.09	.	5.6872	0.17809	0.1153:0.378:0.5068:0.0	.	148	Q5TZ20	OR2G6_HUMAN	T	148	ENSP00000341291:A148T	ENSP00000341291:A148T	A	+	1	0	OR2G6	246752012	0.000000	0.05858	0.008000	0.14137	0.021000	0.10359	-0.504000	0.06375	1.747000	0.51819	0.400000	0.26472	GCA	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097358.1		+	ENST00000343414.4	Missense_Mutation	SNP	1 : 248685389 - 248685389 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	311	83
DDO	8528	broad.mit.edu	37	6	110734632	110734632	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:110734632C>A	ENST00000368924.3	-	2	133	c.118G>T	c.(118-120)Ggt>Tgt	p.G40C	DDO_ENST00000368923.3_Missense_Mutation_p.G40C	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	12					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		CCCACCACACCTGCCCCGACA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	139	141			NA	NA	6		NA											NA				110734632		2203	4300	6503	SO:0001583	missense			D89858	CCDS5082.1, CCDS5083.1	6q22.1	2008-02-05			ENSG00000203797	ENSG00000203797	8528	8528	1.4.3.1		2727	protein-coding gene	gene with protein product		124450			NA	9163533	Standard		NM_003649	NA	Approved		uc003puc.3	Q99489	OTTHUMG00000015360	ENST00000368924.3:c.118G>T	6.37:g.110734632C>A	ENSP00000357920:p.Gly40Cys	NA	A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552	37	CCDS5082.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471670	0.84533	.	.	ENSG00000203797	ENST00000368924;ENST00000368923;ENST00000368925	D;D;D	0.99860	-7.25;-7.25;-7.25	5.32	5.32	0.75619	.	0.110120	0.64402	D	0.000009	D	0.99926	0.9966	H	0.97758	4.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96008	0.8999	10	0.87932	D	0	-18.4927	18.6022	0.91253	0.0:1.0:0.0:0.0	.	40;40	Q99489-4;Q99489-3	.;.	C	40;40;12	ENSP00000357920:G40C;ENSP00000357919:G40C;ENSP00000357921:G12C	ENSP00000357919:G40C	G	-	1	0	DDO	110841325	1.000000	0.71417	0.197000	0.23402	0.045000	0.14185	7.065000	0.76727	2.475000	0.83589	0.462000	0.41574	GGT	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041796.1		-	ENST00000368924.3	Missense_Mutation	SNP	6 : 110734632 - 110734632 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	885	154
CTSE	1510	broad.mit.edu	37	1	206331211	206331211	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206331211C>T	ENST00000360218.2	+	8	1179	c.1075C>T	c.(1075-1077)Ctg>Ttg	p.L359L	CTSE_ENST00000361052.3_3'UTR|CTSE_ENST00000358184.2_3'UTR|CTSE_ENST00000432969.2_Silent_p.L284L	NM_148964.2	NP_683865.1	P14091	CATE_HUMAN	cathepsin E	0					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CTGTGCCTGCCTGTCTGACAG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	112	111			NA	NA	1		NA											NA				206331211		2203	4300	6503	SO:0001819	synonymous_variant			BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	1510	1510	3.4.23.5	Cathepsins	2530	protein-coding gene	gene with protein product		116890			NA	2369841, 2674141	Standard	NM_001910	NM_001910	NA	Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000360218.2:c.1075C>T	1.37:g.206331211C>T		NA	Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	37	CCDS1461.1																																																																																			CTSE-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087999.1		+	ENST00000360218.2	Silent	SNP	1 : 206331211 - 206331211 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	443	12
NR4A2	4929	broad.mit.edu	37	2	157184947	157184947	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:157184947C>A	ENST00000339562.4	-	4	1325	c.963G>T	c.(961-963)caG>caT	p.Q321H	NR4A2_ENST00000539077.1_Missense_Mutation_p.Q332H|NR4A2_ENST00000426264.1_Missense_Mutation_p.Q258H|NR4A2_ENST00000409108.2_Missense_Mutation_p.Q321H|NR4A2_ENST00000409572.1_Missense_Mutation_p.Q321H|NR4A2_ENST00000429376.1_Missense_Mutation_p.Q258H	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	321					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CCAGGCACTTCTGAAATCGGC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	102	105			NA	NA	2		NA											NA				157184947		2203	4300	6503	SO:0001583	missense			X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234	NA	4929		Nuclear hormone receptors	7981	protein-coding gene	gene with protein product		601828		NURR1	NA	7706727	Standard		NM_006186	NA	Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.963G>T	2.37:g.157184947C>A	ENSP00000344479:p.Gln321His	NA	Q16311|Q53RZ2	37	CCDS2201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.02|16.02	3.002799|3.002799	0.54254|0.54254	.|.	.|.	ENSG00000153234|ENSG00000153234	ENST00000406048|ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077;ENST00000409108;ENST00000429376	.|D;D;D;D;D;D	.|0.97430	.|-4.38;-4.38;-4.38;-4.38;-4.38;-4.38	6.07|6.07	4.3|4.3	0.51218|0.51218	.|Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	.|0.053540	.|0.85682	.|D	.|0.000000	.|D	.|0.98102	.|0.9374	M|M	0.84156|0.84156	2.68|2.68	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	.|D	.|0.98019	.|1.0370	.|10	.|0.87932	.|D	.|0	.|.	9.36|9.36	0.38190|0.38190	0.1191:0.7675:0.0:0.1134|0.1191:0.7675:0.0:0.1134	.|.	.|321	.|P43354	.|NR4A2_HUMAN	X|H	103|321;258;321;332;321;258	.|ENSP00000344479:Q321H;ENSP00000389986:Q258H;ENSP00000386747:Q321H;ENSP00000444925:Q332H;ENSP00000386993:Q321H;ENSP00000410952:Q258H	.|ENSP00000344479:Q321H	E|Q	-|-	1|3	0|2	NR4A2|NR4A2	156893193|156893193	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.201000|2.201000	0.42734|0.42734	0.909000|0.909000	0.36697|0.36697	0.655000|0.655000	0.94253|0.94253	GAA|CAG	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254909.2		-	ENST00000339562.4	Missense_Mutation	SNP	2 : 157184947 - 157184947 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	530	89
XPC	7508	broad.mit.edu	37	3	14190179	14190179	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14190179G>T	ENST00000285021.7	-	13	2517	c.2303C>A	c.(2302-2304)cCt>cAt	p.P768H	XPC_ENST00000449060.2_Missense_Mutation_p.P731H	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	768	DNA-binding; preference for single stranded DNA; required for formation of stable nucleoprotein complex.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACAGCCAATAGGCATCATGCT	0.582		NA	Mis, N, F, S			skin basal cell, skin squamous cell, melanoma		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	xeroderma pigmentosum, complementation group C		E	0													79	84	82			NA	NA	3		NA											NA				14190179		2112	4222	6334	SO:0001583	missense	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767	7508	7508			12816	protein-coding gene	gene with protein product	xeroderma pigmentosum group C protein	613208			NA	1522891	Standard	NM_004628	NM_004628	NA	Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.2303C>A	3.37:g.14190179G>T	ENSP00000285021:p.Pro768His	NA	Q53GT7|Q96AX0	37	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	G	30	5.056570	0.93793	.	.	ENSG00000154767	ENST00000285021;ENST00000449060	D;D	0.91577	-2.87;-2.61	5.79	5.79	0.91817	DNA repair protein Rad4, DNA-binding domain 3 (1);	0.000000	0.85682	D	0.000000	D	0.96981	0.9014	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97465	1.0037	10	0.87932	D	0	-19.3044	20.0207	0.97499	0.0:0.0:1.0:0.0	.	731;768	E9PH69;Q01831	.;XPC_HUMAN	H	768;731	ENSP00000285021:P768H;ENSP00000404002:P731H	ENSP00000285021:P768H	P	-	2	0	XPC	14165180	1.000000	0.71417	0.965000	0.40720	0.915000	0.54546	9.607000	0.98328	2.739000	0.93911	0.563000	0.77884	CCT	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340517.3		-	ENST00000285021.7	Missense_Mutation	SNP	3 : 14190179 - 14190179 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	207	18
SNTA1	6640	broad.mit.edu	37	20	32005695	32005695	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32005695C>A	ENST00000217381.2	-	3	802	c.531G>T	c.(529-531)aaG>aaT	p.K177N		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	177	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						CAGTAGAGTTCTTGAAATACG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	89	90			NA	NA	20		NA											NA				32005695		2203	4300	6503	SO:0001583	missense			U40571	CCDS13220.1	20q11.2	2014-09-17	2012-06-15		ENSG00000101400	ENSG00000101400	6640	6640			11167	protein-coding gene	gene with protein product	pro-TGF-alpha cytoplasmic domain-interacting protein 1, dystrophin-associated protein A1, 59kDa, acidic component	601017	syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component)	SNT1	NA	8576247, 8612778	Standard	NM_003098	NM_003098	NA	Approved	TACIP1, LQT12	uc002wzd.1	Q13424	OTTHUMG00000032259	ENST00000217381.2:c.531G>T	20.37:g.32005695C>A	ENSP00000217381:p.Lys177Asn	NA	A8K7H9|E1P5N1|Q16438	37	CCDS13220.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196233	0.78902	.	.	ENSG00000101400	ENST00000217381	T	0.59772	0.24	5.71	5.71	0.89125	PDZ/DHR/GLGF (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.70482	0.3229	L	0.49778	1.585	0.58432	D	0.999997	D;D	0.89917	0.998;1.0	D;D	0.87578	0.994;0.998	T	0.72121	-0.4386	10	0.87932	D	0	-9.7851	13.7535	0.62921	0.0:0.9258:0.0:0.0742	.	177;177	B4DX40;Q13424	.;SNTA1_HUMAN	N	177	ENSP00000217381:K177N	ENSP00000217381:K177N	K	-	3	2	SNTA1	31469356	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.618000	0.46393	2.694000	0.91930	0.655000	0.94253	AAG	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078704.2		-	ENST00000217381.2	Missense_Mutation	SNP	20 : 32005695 - 32005695 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	479	84
R3HDM1	23518	broad.mit.edu	37	2	136481790	136481790	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136481790T>C	ENST00000410054.1	+	23	3394	c.3063T>C	c.(3061-3063)gtT>gtC	p.V1021V	R3HDM1_ENST00000264160.4_Silent_p.V1076V|R3HDM1_ENST00000409478.1_Silent_p.V948V|R3HDM1_ENST00000409606.1_Silent_p.V1077V|R3HDM1_ENST00000329971.3_Silent_p.V947V	NM_001282800.1	NP_001269729.1	Q15032	R3HD1_HUMAN	R3H domain containing 1	1076							nucleic acid binding	p.V1076V(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TTAACTCAGTTAACAAGTTTA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	kidney(1)											66	61	63			NA	NA	2		NA											NA				136481790		2203	4300	6503	SO:0001819	synonymous_variant			D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991	23518	23518			9757	protein-coding gene	gene with protein product			R3H domain (binds single-stranded nucleic acids) containing	R3HDM	NA	7584026	Standard	NM_015361	NM_001282798	NA	Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000410054.1:c.3063T>C	2.37:g.136481790T>C		NA	Q8IW32	37		.	.	.	.	.	.	.	.	.	.	T	5.230	0.227914	0.09916	.	.	ENSG00000048991	ENST00000429703	.	.	.	5.74	1.73	0.24493	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.9318	8.1282	0.31012	0.0:0.1243:0.4865:0.3891	.	.	.	.	Q	800	.	.	X	+	1	0	R3HDM1	136198260	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.328000	0.19681	0.501000	0.28013	0.459000	0.35465	TAA	R3HDM1-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000331546.2		+	ENST00000410054.1	Silent	SNP	2 : 136481790 - 136481790 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	227	16
CCNA2	890	broad.mit.edu	37	4	122740651	122740651	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122740651C>T	ENST00000274026.5	-	5	1181	c.878G>A	c.(877-879)aGa>aAa	p.R293K		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	293					cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						ATGCTCCATTCTCAGAACTTG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	127	126			NA	NA	4		NA											NA				122740651		2203	4300	6503	SO:0001583	missense				CCDS3723.1	4q27	2012-07-12			ENSG00000145386	ENSG00000145386	890	890			1578	protein-coding gene	gene with protein product		123835		CCNA, CCN1	NA	1675006	Standard	NM_001237	NM_001237	NA	Approved		uc003iec.4	P20248	OTTHUMG00000133072	ENST00000274026.5:c.878G>A	4.37:g.122740651C>T	ENSP00000274026:p.Arg293Lys	NA	A8K7B6|Q2M3U6|Q4W5P4|Q6LER8	37	CCDS3723.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.782183	0.70222	.	.	ENSG00000145386	ENST00000274026	T	0.18338	2.22	6.04	6.04	0.98038	Cyclin, N-terminal (1);Cyclin-like (3);	0.045186	0.85682	D	0.000000	T	0.12008	0.0292	N	0.25060	0.705	0.48901	D	0.999726	B	0.16396	0.017	B	0.23852	0.049	T	0.12863	-1.0531	10	0.08837	T	0.75	.	13.7331	0.62802	0.0:0.9302:0.0:0.0698	.	293	P20248	CCNA2_HUMAN	K	293	ENSP00000274026:R293K	ENSP00000274026:R293K	R	-	2	0	CCNA2	122960101	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.032000	0.70918	2.873000	0.98535	0.561000	0.74099	AGA	CCNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256712.2		-	ENST00000274026.5	Missense_Mutation	SNP	4 : 122740651 - 122740651 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	577	47
RASSF6	166824	broad.mit.edu	37	4	74447568	74447568	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74447568C>A	ENST00000307439.5	-	8	981	c.687G>T	c.(685-687)caG>caT	p.Q229H	RASSF6_ENST00000395777.2_Missense_Mutation_p.Q195H|RASSF6_ENST00000342081.3_Missense_Mutation_p.Q261H|RASSF6_ENST00000335049.5_Missense_Mutation_p.Q217H	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	261	Ras-associating.				apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GAGCAAAATCCTGGGGACTAT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	92	91			NA	NA	4		NA											NA				74447568		2203	4300	6503	SO:0001583	missense			AY217664	CCDS3558.1, CCDS3559.1, CCDS58904.1, CCDS58905.1	4q21.1	2008-02-22	2008-02-22		ENSG00000169435	ENSG00000169435	166824	166824			20796	protein-coding gene	gene with protein product		612620			NA		Standard	NM_177532	NM_177532	NA	Approved		uc003hhd.2	Q6ZTQ3	OTTHUMG00000130007	ENST00000307439.5:c.687G>T	4.37:g.74447568C>A	ENSP00000303877:p.Gln229His	NA	Q68DT2|Q6PDA6|Q86WG9|Q86WH0	37	CCDS3559.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.771961	0.31320	.	.	ENSG00000169435	ENST00000307439;ENST00000342081;ENST00000395777;ENST00000335049	T;T;T;T	0.30714	2.24;2.24;1.52;2.24	5.38	2.71	0.32032	Ras-association (3);	0.521869	0.22492	N	0.059351	T	0.23492	0.0568	L	0.41961	1.31	0.25594	N	0.986662	B;B;B	0.29835	0.11;0.029;0.258	B;B;B	0.31614	0.037;0.032;0.133	T	0.13737	-1.0498	10	0.37606	T	0.19	-8.2678	6.7214	0.23332	0.0:0.7153:0.0:0.2846	.	217;195;261	Q6ZTQ3-3;Q6ZTQ3-4;Q6ZTQ3	.;.;RASF6_HUMAN	H	229;261;195;217	ENSP00000303877:Q229H;ENSP00000340578:Q261H;ENSP00000379123:Q195H;ENSP00000335582:Q217H	ENSP00000303877:Q229H	Q	-	3	2	RASSF6	74666432	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	0.290000	0.18975	0.653000	0.30826	0.591000	0.81541	CAG	RASSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252278.2		-	ENST00000307439.5	Missense_Mutation	SNP	4 : 74447568 - 74447568 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	420	68
APBA1	320	broad.mit.edu	37	9	72071981	72071981	+	Silent	SNP	G	G	A	rs144906159	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72071981G>A	ENST00000265381.4	-	7	1812	c.1590C>T	c.(1588-1590)aaC>aaT	p.N530N	APBA1_ENST00000470082.1_5'UTR	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	530	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GTGTGTCGGCGTTCAGCACTT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		5,4401	9.9+/-24.2	0,5,2198	130	117	121		1590	-3.6	0.8	9	dbSNP_134	121	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	APBA1	NM_001163.3		0,6,6497	AA,AG,GG	NA	0.0116,0.1135,0.0461		530/838	72071981	6,13000	2203	4300	6503	SO:0001819	synonymous_variant			AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282	320	320			578	protein-coding gene	gene with protein product		602414		MINT1	NA	7678331, 7719031	Standard	NM_001163	NM_001163	NA	Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1590C>T	9.37:g.72071981G>A		NA	O14914|O60570|Q5VYR8	37	CCDS6630.1																																																																																			APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052589.2		-	ENST00000265381.4	Silent	SNP	9 : 72071981 - 72071981 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	348	73
DROSHA	29102	broad.mit.edu	37	5	31423045	31423045	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:31423045C>T	ENST00000511367.2	-	28	3512	c.3268G>A	c.(3268-3270)Gag>Aag	p.E1090K	DROSHA_ENST00000513349.1_Missense_Mutation_p.E1053K|DROSHA_ENST00000442743.1_Missense_Mutation_p.E1053K|DROSHA_ENST00000344624.3_Missense_Mutation_p.E1090K	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1090	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.E1090*(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GTATTTGGCTCTTGTAGCTAC	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Nonsense(1)	kidney(1)											57	55	56			NA	NA	5		NA											NA				31423045		1815	4064	5879	SO:0001583	missense			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	29102	29102	3.1.26.3		17904	protein-coding gene	gene with protein product	drosha, ribonuclease type III, drosha, double-stranded RNA-specific endoribonuclease	608828	ribonuclease type III, nuclear	RNASEN	NA	10713462, 10948199	Standard	NM_013235	NM_013235	NA	Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.3268G>A	5.37:g.31423045C>T	ENSP00000425979:p.Glu1090Lys	NA	Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	37	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	C	32	5.172684	0.94807	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	T;T;T;T	0.47177	1.43;1.43;0.85;0.85	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.66167	0.2762	M	0.69358	2.11	0.80722	D	1	D;D	0.55605	0.972;0.962	P;P	0.58780	0.845;0.691	T	0.66504	-0.5907	10	0.72032	D	0.01	-21.751	20.3248	0.98698	0.0:1.0:0.0:0.0	.	1053;1090	E7EMP9;Q9NRR4	.;RNC_HUMAN	K	1090;1090;1053;1053;1015;1046	ENSP00000425979:E1090K;ENSP00000339845:E1090K;ENSP00000409335:E1053K;ENSP00000424161:E1053K	ENSP00000265075:E1015K	E	-	1	0	DROSHA	31458802	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.271000	0.78506	2.818000	0.97014	0.655000	0.94253	GAG	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366561.3		-	ENST00000511367.2	Missense_Mutation	SNP	5 : 31423045 - 31423045 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	84	13
WDR25	79446	broad.mit.edu	37	14	100847801	100847801	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100847801A>G	ENST00000335290.6	+	2	766	c.540A>G	c.(538-540)agA>agG	p.R180R	WDR25_ENST00000554175.1_Silent_p.R180R|WDR25_ENST00000554998.1_Silent_p.R180R|WDR25_ENST00000402312.3_Silent_p.R180R	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	180										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				CTCCCAGAAGACTAAGACAGC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	90	87			NA	NA	14		NA											NA				100847801		2203	4300	6503	SO:0001819	synonymous_variant			BC007953	CCDS32157.1	14q32.32	2013-01-09				ENSG00000176473	79446	79446		WD repeat domain containing	21064	protein-coding gene	gene with protein product			chromosome 14 open reading frame 67	C14orf67	NA	15587985	Standard	NM_024515	NM_001161476	NA	Approved	MGC4645	uc001yhn.3	Q64LD2		ENST00000335290.6:c.540A>G	14.37:g.100847801A>G		NA	A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	37	CCDS32157.1																																																																																			WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414312.1		+	ENST00000335290.6	Silent	SNP	14 : 100847801 - 100847801 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	875	180
RARS2	57038	broad.mit.edu	37	6	88240541	88240541	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88240541A>C	ENST00000369536.5	-	9	777	c.732T>G	c.(730-732)ttT>ttG	p.F244L		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	244					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		TCAAGTCCCGAAATTTTTGCC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	161	167			NA	NA	6		NA											NA				88240541		2203	4300	6503	SO:0001583	missense			AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	57038	57038	6.1.1.19	Aminoacyl tRNA synthetases / Class I	21406	protein-coding gene	gene with protein product	arginine tRNA ligase 2, mitochondrial (putative)	611524	arginyl-tRNA synthetase-like	RARSL	NA	17847012	Standard	NM_020320	NM_020320	NA	Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.732T>G	6.37:g.88240541A>C	ENSP00000358549:p.Phe244Leu	NA	B2RDT7|Q96FU5|Q9H8K8	37	CCDS5011.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.338772	0.81911	.	.	ENSG00000146282	ENST00000369536	T	0.58358	0.34	6.17	1.25	0.21368	Arginyl-tRNA synthetase, class Ia, core (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.45538	0.1347	L	0.60845	1.875	0.53688	D	0.999976	P	0.47604	0.898	P	0.55391	0.775	T	0.41840	-0.9486	10	0.45353	T	0.12	.	9.2739	0.37688	0.6473:0.0:0.3527:0.0	.	244	Q5T160	SYRM_HUMAN	L	244	ENSP00000358549:F244L	ENSP00000358549:F244L	F	-	3	2	RARS2	88297260	1.000000	0.71417	0.998000	0.56505	0.915000	0.54546	1.724000	0.38064	-0.011000	0.14247	-0.274000	0.10170	TTT	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041448.1		-	ENST00000369536.5	Missense_Mutation	SNP	6 : 88240541 - 88240541 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	546	91
CLUAP1	23059	broad.mit.edu	37	16	3569998	3569998	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3569998A>G	ENST00000571025.1	+	7	725	c.675A>G	c.(673-675)gaA>gaG	p.E225E	CLUAP1_ENST00000445795.2_5'UTR|CLUAP1_ENST00000576634.1_Silent_p.E225E|CLUAP1_ENST00000572600.1_Silent_p.E59E|CLUAP1_ENST00000417763.2_Silent_p.E59E|CLUAP1_ENST00000341633.5_Silent_p.E225E			Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	225						nucleus	protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						TAGAACTGGAAAGAAATCGGA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	95	94			NA	NA	16		NA											NA				3569998		2197	4300	6497	SO:0001819	synonymous_variant			BC017070	CCDS32381.1, CCDS45398.1	16p13.3	2014-07-18				ENSG00000103351	23059	23059		Intraflagellar transport homologs	19009	protein-coding gene	gene with protein product	flagellar associated protein 22, qilin-like protein, homolog (Chlamydomonas), cilia and flagella associated protein 22				NA	15480429, 9734811, 19253336	Standard	NM_024793	NM_015041	NA	Approved	FLJ13297, KIAA0643, FAP22, CFAP22	uc002cvk.2	Q96AJ1		ENST00000571025.1:c.675A>G	16.37:g.3569998A>G		NA	O75138|Q65ZA3|Q9H8R4|Q9H8T1	37																																																																																				CLUAP1-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000437889.1		+	ENST00000571025.1	Silent	SNP	16 : 3569998 - 3569998 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	639	126
ZDHHC7	55625	broad.mit.edu	37	16	85024017	85024017	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85024017G>T	ENST00000313732.4	-	3	560	c.208C>A	c.(208-210)Ctg>Atg	p.L70M	ZDHHC7_ENST00000569488.1_5'UTR|ZDHHC7_ENST00000564466.1_Missense_Mutation_p.L70M	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	70						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(6)|lung(4)	10						GAAGGCAGCAGCATGACGAAA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	90	99			NA	NA	16		NA											NA				85024017		2199	4300	6499	SO:0001583	missense			AK000286	CCDS10950.1, CCDS45538.1	16q23.1	2010-02-09			ENSG00000153786	ENSG00000153786	55625	55625		Zinc fingers, DHHC-type	18459	protein-coding gene	gene with protein product	Sertoli cell gene with zinc finger domain-&				NA					NA									NA		NA																																																																																								NA									0	0
COL6A2	1292	broad.mit.edu	37	21	47546054	47546054	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47546054C>T	ENST00000300527.4	+	26	2429	c.2325C>T	c.(2323-2325)atC>atT	p.I775I	COL6A2_ENST00000357838.4_Silent_p.I775I|COL6A2_ENST00000409416.1_Silent_p.I775I|COL6A2_ENST00000310645.5_Silent_p.I775I|COL6A2_ENST00000397763.1_Silent_p.I775I	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	775	Nonhelical region.|VWFA 2.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TCTACTCCATCGCCTGCGACA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													200	197	198			NA	NA	21		NA											NA				47546054		2203	4299	6502	SO:0001819	synonymous_variant			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173	NA	1292		Collagens	2212	protein-coding gene	gene with protein product		120240			NA		Standard		NM_001849	NA	Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2325C>T	21.37:g.47546054C>T		NA	Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	37	CCDS13728.1																																																																																			COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206971.1		+	ENST00000300527.4	Silent	SNP	21 : 47546054 - 47546054 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1797	180
MYO15A	51168	broad.mit.edu	37	17	18022454	18022454	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18022454C>A	ENST00000205890.5	+	2	678	c.340C>A	c.(340-342)Cgc>Agc	p.R114S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	114	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTTCCCAGGCCGCCGTGGCTA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													10	12	11			NA	NA	17		NA											NA				18022454		1675	3746	5421	SO:0001583	missense			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536	51168	51168		Myosins / Myosin superfamily : Class XV	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15	NA	9603736	Standard	NM_016239	NM_016239	NA	Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.340C>A	17.37:g.18022454C>A	ENSP00000205890:p.Arg114Ser	NA		37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710691	0.30322	.	.	ENSG00000091536	ENST00000205890	D	0.89552	-2.53	4.92	2.65	0.31530	.	.	.	.	.	T	0.79106	0.4390	N	0.24115	0.695	0.09310	N	0.999999	P	0.44690	0.841	B	0.35278	0.199	T	0.69316	-0.5177	9	0.54805	T	0.06	.	10.4112	0.44294	0.2702:0.6111:0.1186:0.0	.	114	Q9UKN7	MYO15_HUMAN	S	114	ENSP00000205890:R114S	ENSP00000205890:R114S	R	+	1	0	MYO15A	17963179	0.014000	0.17966	0.019000	0.16419	0.119000	0.20118	0.115000	0.15540	1.040000	0.40099	0.462000	0.41574	CGC	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132048.1		+	ENST00000205890.5	Missense_Mutation	SNP	17 : 18022454 - 18022454 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	190	37
TSHR	7253	broad.mit.edu	37	14	81609439	81609439	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:81609439C>T	ENST00000541158.2	+	11	1359	c.1037C>T	c.(1036-1038)aCt>aTt	p.T346I	TSHR_ENST00000298171.2_Missense_Mutation_p.T346I|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	346					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TTCCAGGATACTCATAACAAC	0.438		NA	Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism							NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	0													224	203	210			NA	NA	14		NA											NA				81609439		2203	4300	6503	SO:0001583	missense			AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409	7253	7253		GPCR / Class A : Gonadotropin and TSH receptors	12373	protein-coding gene	gene with protein product		603372			NA	2558651, 2610690	Standard	NM_000369	NM_001018036	NA	Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1037C>T	14.37:g.81609439C>T	ENSP00000441235:p.Thr346Ile	NA	Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	37	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.404780	0.01155	.	.	ENSG00000165409	ENST00000541158;ENST00000298171	T;T	0.75154	-0.91;-0.91	5.78	-1.26	0.09376	.	0.851176	0.10874	N	0.624546	T	0.50871	0.1641	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.25537	-1.0129	10	0.18710	T	0.47	.	2.0865	0.03647	0.1153:0.3039:0.1487:0.4321	.	346	F5GYU5	.	I	346	ENSP00000441235:T346I;ENSP00000298171:T346I	ENSP00000298171:T346I	T	+	2	0	TSHR	80679192	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.914000	0.28624	-0.070000	0.12908	0.655000	0.94253	ACT	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413364.1		+	ENST00000541158.2	Missense_Mutation	SNP	14 : 81609439 - 81609439 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	535	96
EPC2	26122	broad.mit.edu	37	2	149528924	149528924	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149528924C>T	ENST00000258484.6	+	10	1722	c.1688C>T	c.(1687-1689)gCt>gTt	p.A563V		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	563					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		GCATCTGTAGCTTTATTGAAC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	121	123			NA	NA	2		NA											NA				149528924		1870	4098	5968	SO:0001583	missense			AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999	26122	26122			24543	protein-coding gene	gene with protein product		611000			NA		Standard	NM_015630	NM_015630	NA	Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.1688C>T	2.37:g.149528924C>T	ENSP00000258484:p.Ala563Val	NA	B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	37	CCDS46422.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055286	0.55325	.	.	ENSG00000135999	ENST00000258484	T	0.17054	2.3	5.34	5.34	0.76211	.	0.178765	0.49305	D	0.000151	T	0.22704	0.0548	N	0.08118	0	0.80722	D	1	D	0.63880	0.993	D	0.65443	0.935	T	0.25257	-1.0137	10	0.28530	T	0.3	-3.0814	19.4043	0.94642	0.0:1.0:0.0:0.0	.	563	Q52LR7	EPC2_HUMAN	V	563	ENSP00000258484:A563V	ENSP00000258484:A563V	A	+	2	0	EPC2	149245394	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.161000	0.58170	2.646000	0.89796	0.563000	0.77884	GCT	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000332278.1		+	ENST00000258484.6	Missense_Mutation	SNP	2 : 149528924 - 149528924 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	690	99
CFHR2	3080	broad.mit.edu	37	1	196920108	196920108	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196920108T>G	ENST00000367415.5	+	3	480	c.380T>G	c.(379-381)aTt>aGt	p.I127S	CFHR2_ENST00000367421.3_Missense_Mutation_p.I127S|CFHR2_ENST00000496448.1_3'UTR|CFHR2_ENST00000476712.2_Missense_Mutation_p.I111S	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	NA	Sushi 2.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						GAGAACAACATTTCATGTGTA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	113	118			NA	NA	1		NA											NA				196920108		2203	4300	6503	SO:0001583	missense			X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910	3080	3080		Complement system	4890	protein-coding gene	gene with protein product		600889	H factor (complement)-like 3	HFL3, CFHL2	NA	1533657, 7672821	Standard	NM_005666	NM_005666	NA	Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.380T>G	1.37:g.196920108T>G	ENSP00000356385:p.Ile127Ser	NA	Q14310|Q5T9T1	37	CCDS30959.1	.	.	.	.	.	.	.	.	.	.	.	12.52	1.962534	0.34659	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	T;T	0.67698	-0.28;-0.28	2.77	1.59	0.23543	Complement control module (2);Sushi/SCR/CCP (3);	0.234704	0.21634	N	0.071425	T	0.75679	0.3882	M	0.77313	2.365	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62153	-0.6914	10	0.33940	T	0.23	.	4.5334	0.12017	0.0:0.1685:0.0:0.8315	.	127	P36980	FHR2_HUMAN	S	127	ENSP00000356391:I127S;ENSP00000356385:I127S	ENSP00000356385:I127S	I	+	2	0	CFHR2	195186731	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	0.947000	0.29082	0.268000	0.21939	0.352000	0.21897	ATT	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088815.2		+	ENST00000367415.5	Missense_Mutation	SNP	1 : 196920108 - 196920108 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	443	12
VWA8	23078	broad.mit.edu	37	13	42149881	42149881	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:42149881G>T	ENST00000379310.3	-	43	5433	c.5365C>A	c.(5365-5367)Ctg>Atg	p.L1789M		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8	NA											NA						TTTACCTTCAGAATTTCTAGT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	106	108			NA	NA	13		NA											NA				42149881		1814	4076	5890	SO:0001583	missense			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763	23078	23078			29071	protein-coding gene	gene with protein product			KIAA0564	KIAA0564	NA	9628581	Standard	NM_015058	NM_015058	NA	Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.5365C>A	13.37:g.42149881G>T	ENSP00000368612:p.Leu1789Met	NA		37	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880103	0.72294	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.18657	2.2	5.86	5.02	0.67125	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000001	T	0.44435	0.1293	L	0.61036	1.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.41395	-0.9511	10	0.66056	D	0.02	.	14.9613	0.71158	0.0683:0.0:0.9317:0.0	.	1789	A3KMH1	K0564_HUMAN	M	1693;1789	ENSP00000368612:L1789M	ENSP00000251030:L1693M	L	-	1	2	KIAA0564	41047881	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.884000	0.56175	1.491000	0.48482	0.655000	0.94253	CTG	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354828.2		-	ENST00000379310.3	Missense_Mutation	SNP	13 : 42149881 - 42149881 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	277	46
TRPV4	59341	broad.mit.edu	37	12	110246189	110246189	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110246189G>A	ENST00000418703.2	-	2	565	c.471C>T	c.(469-471)atC>atT	p.I157I	TRPV4_ENST00000536838.1_Silent_p.I123I|TRPV4_ENST00000537083.1_Silent_p.I157I|TRPV4_ENST00000392719.2_Silent_p.I157I|TRPV4_ENST00000346520.2_Silent_p.I157I|TRPV4_ENST00000261740.2_Silent_p.I157I|TRPV4_ENST00000541794.1_Silent_p.I157I|TRPV4_ENST00000544971.1_Silent_p.I157I	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	157					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CCCGGGACACGATGTCAAAGA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,,,,	1,4405	2.1+/-5.4	0,1,2202	65	58	60		471,369,471,471,471	0.6	1	12		60	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TRPV4	NM_001177428.1,NM_001177431.1,NM_001177433.1,NM_021625.4,NM_147204.2	,,,,	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	,,,,	157/825,123/838,157/765,157/872,157/812	110246189	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199	59341	59341		Voltage-gated ion channels / Transient receptor potential cation channels, Ankyrin repeat domain containing	18083	protein-coding gene	gene with protein product	osmosensitive transient receptor potential channel 4	605427			NA	11025659, 11081638, 16382100, 20037587	Standard	NM_021625	NM_147204	NA	Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.471C>T	12.37:g.110246189G>A		NA	B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	37	CCDS9134.1																																																																																			TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403270.1		-	ENST00000418703.2	Silent	SNP	12 : 110246189 - 110246189 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	396	82
TBC1D9B	23061	broad.mit.edu	37	5	179302094	179302094	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179302094C>A	ENST00000356834.3	-	12	2031	c.1994G>T	c.(1993-1995)aGc>aTc	p.S665I	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.S665I	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	665	Rab-GAP TBC.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCGAGATGCTGGAGATCAC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	91	93			NA	NA	5		NA											NA				179302094		2203	4300	6503	SO:0001583	missense			AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226	23061	23061		EF-hand domain containing	29097	protein-coding gene	gene with protein product					NA	9734811	Standard	NM_015043	NM_198868	NA	Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.1994G>T	5.37:g.179302094C>A	ENSP00000349291:p.Ser665Ile	NA	D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	37	CCDS43408.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534226	0.64972	.	.	ENSG00000197226	ENST00000356834;ENST00000355235	T;T	0.10099	2.91;2.91	5.29	4.41	0.53225	Rab-GAP/TBC domain (4);	0.059600	0.64402	D	0.000003	T	0.07548	0.0190	N	0.25201	0.72	0.80722	D	1	P;B;B	0.34699	0.464;0.409;0.263	B;B;B	0.36766	0.232;0.149;0.232	T	0.09378	-1.0677	10	0.05833	T	0.94	-31.843	14.2923	0.66286	0.0:0.7149:0.2851:0.0	.	665;665;665	A1L3A9;Q66K14-2;Q66K14	.;.;TBC9B_HUMAN	I	665	ENSP00000349291:S665I;ENSP00000347375:S665I	ENSP00000347375:S665I	S	-	2	0	TBC1D9B	179234700	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.038000	0.57318	2.469000	0.83416	0.491000	0.48974	AGC	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253501.3		-	ENST00000356834.3	Missense_Mutation	SNP	5 : 179302094 - 179302094 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	423	126
RYR1	6261	broad.mit.edu	37	19	39062895	39062895	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39062895C>T	ENST00000355481.4	+	94	14099	c.13968C>T	c.(13966-13968)ggC>ggT	p.G4656G	RYR1_ENST00000359596.3_Silent_p.G4661G|RYR1_ENST00000360985.3_Silent_p.G4656G	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4661					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)	GCATCATTGGCTATAATTGTC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	86	90			NA	NA	19		NA											NA				39062895		2203	4300	6503	SO:0001819	synonymous_variant			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.13968C>T	19.37:g.39062895C>T		NA	Q16314|Q16368|Q9NPK1|Q9P1U4	37	CCDS42563.1																																																																																			RYR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461017.2		+	ENST00000355481.4	Silent	SNP	19 : 39062895 - 39062895 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	523	53
TLE4	7091	broad.mit.edu	37	9	82336698	82336698	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:82336698T>C	ENST00000376552.2	+	17	2899	c.1881T>C	c.(1879-1881)atT>atC	p.I627I	TLE4_ENST00000265284.6_Silent_p.I602I|TLE4_ENST00000376537.4_Silent_p.I659I|TLE4_ENST00000376520.4_Silent_p.I659I|TLE4_ENST00000376544.3_Silent_p.I558I|TLE4_ENST00000376534.4_Silent_p.I264I	NM_007005.3	NP_008936.2	O60756	BCE1_HUMAN	transducin-like enhancer of split 4	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GTATTGACATTTCTAATGATG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	73	73			NA	NA	9		NA											NA				82336698		2203	4300	6503	SO:0001819	synonymous_variant			M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829	7091	7091		WD repeat domain containing	11840	protein-coding gene	gene with protein product		605132	transducin-like enhancer of split 4, homolog of Drosophila E(sp1), transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)		NA	8365415	Standard	XM_212237	XM_005252167	NA	Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.1881T>C	9.37:g.82336698T>C		NA		37	CCDS43837.1																																																																																			TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052792.4		+	ENST00000376552.2	Silent	SNP	9 : 82336698 - 82336698 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	335	9
C22orf29	79680	broad.mit.edu	37	22	19839449	19839449	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19839449C>T	ENST00000405640.1	-	2	1004	c.336G>A	c.(334-336)tgG>tgA	p.W112*	C22orf29_ENST00000407472.1_Nonsense_Mutation_p.W112*|C22orf29_ENST00000328554.4_Nonsense_Mutation_p.W112*|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000403325.1_Intron			Q7L3V2	CV029_HUMAN	chromosome 22 open reading frame 29	112										NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					GGTCCAGTAGCCACGGGGAGC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	66	63			NA	NA	22		NA											NA				19839449		2203	4300	6503	SO:0001587	stop_gained			BX640998	CCDS13769.1	22q11.21	2006-07-05			ENSG00000215012	ENSG00000215012	79680	79680			26112	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024627	NM_024627	NA	Approved	FLJ21125	uc002zqh.3	Q7L3V2	OTTHUMG00000030314	ENST00000405640.1:c.336G>A	22.37:g.19839449C>T	ENSP00000384924:p.Trp112*	NA	D3DX21|Q6MZM8|Q6N000|Q9H7A0	37	CCDS13769.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193545	0.58017	.	.	ENSG00000215012	ENST00000407472;ENST00000328554;ENST00000405640	.	.	.	3.35	-0.0897	0.13667	.	0.286677	0.17698	U	0.165025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	3.2451	0.06794	0.0:0.5045:0.2252:0.2703	.	.	.	.	X	112	.	ENSP00000330596:W112X	W	-	3	0	C22orf29	18219449	0.002000	0.14202	0.080000	0.20451	0.026000	0.11368	0.006000	0.13152	0.059000	0.16252	0.591000	0.81541	TGG	C22orf29-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317290.2		-	ENST00000405640.1	Nonsense_Mutation	SNP	22 : 19839449 - 19839449 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	585	99
ARMC6	93436	broad.mit.edu	37	19	19166660	19166660	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19166660C>T	ENST00000546344.1	+	5	1255	c.937C>T	c.(937-939)Cgc>Tgc	p.R313C	ARMC6_ENST00000392336.3_Missense_Mutation_p.R406C|ARMC6_ENST00000269932.6_Missense_Mutation_p.R381C|ARMC6_ENST00000535612.1_Missense_Mutation_p.R406C|ARMC6_ENST00000392335.2_Missense_Mutation_p.R381C			Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	406							protein binding	p.R381S(1)|p.R406S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CGACAACAGCCGCATCATCGT	0.672		NA											C	1	5e-04	NA	NA	2184	0.0017	0.9994	,	,	NA	4e-04	NA	NA	NA	8e-04	0.7496	EXOME	NA	NA	9e-04	SNP								NA				2	Substitution - Missense(2)	lung(2)											56	61	60			NA	NA	19		NA											NA				19166660		2202	4297	6499	SO:0001583	missense			BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676	93436	93436		Armadillo repeat containing	25049	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_033415	NM_033415	NA	Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000546344.1:c.937C>T	19.37:g.19166660C>T	ENSP00000444341:p.Arg313Cys	NA	B4DI98|O94999|Q9BTH5	37		1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	16.00|16.00	2.998589|2.998589	0.54147|0.54147	.|.	.|.	ENSG00000105676|ENSG00000105676	ENST00000535795|ENST00000392335;ENST00000535612;ENST00000269932;ENST00000546344;ENST00000379532;ENST00000392336	.|T;T;T;T;T	.|0.51071	.|0.72;0.72;0.72;0.72;0.72	5.24|5.24	4.14|4.14	0.48551|0.48551	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.320112	.|0.32218	.|N	.|0.006406	T|T	0.57403|0.57403	0.2051|0.2051	M|M	0.61703|0.61703	1.905|1.905	0.47621|0.47621	D|D	0.999478|0.999478	.|D	.|0.89917	.|1.0	.|P	.|0.57324	.|0.818	T|T	0.59721|0.59721	-0.7401|-0.7401	5|10	.|0.56958	.|D	.|0.05	-30.9653|-30.9653	10.9243|10.9243	0.47182|0.47182	0.3419:0.6581:0.0:0.0|0.3419:0.6581:0.0:0.0	.|.	.|406	.|Q6NXE6	.|ARMC6_HUMAN	L|C	69|381;406;381;313;317;406	.|ENSP00000376147:R381C;ENSP00000444156:R406C;ENSP00000269932:R381C;ENSP00000444341:R313C;ENSP00000376148:R406C	.|ENSP00000269932:R381C	P|R	+|+	2|1	0|0	ARMC6|ARMC6	19027660|19027660	0.990000|0.990000	0.36364|0.36364	0.994000|0.994000	0.49952|0.49952	0.071000|0.071000	0.16799|0.16799	3.241000|3.241000	0.51376|0.51376	2.454000|2.454000	0.82982|0.82982	0.650000|0.650000	0.86243|0.86243	CCG|CGC	ARMC6-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000403231.1		+	ENST00000546344.1	Missense_Mutation	SNP	19 : 19166660 - 19166660 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	610	147
SLCO1B3	28234	broad.mit.edu	37	12	21014072	21014072	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21014072G>A	ENST00000381545.3	+	6	700	c.481G>A	c.(481-483)Gat>Aat	p.D161N	SLCO1B3_ENST00000261196.2_Splice_Site_p.D161N|SLCO1B3_ENST00000553473.1_Splice_Site_p.D161N|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Splice_Site_p.D161N|SLCO1B7_ENST00000554957.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	161					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					AGTAGAAAAAGGTAAGAATTA	0.264		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	40	39			NA	NA	12		NA											NA				21014072		2197	4266	6463	SO:0001630	splice_region_variant				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700	28234	28234		Solute carriers	10961	protein-coding gene	gene with protein product		605495	solute carrier family 21 (organic anion transporter), member 8	SLC21A8	NA		Standard	NM_019844	NM_019844	NA	Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.481+1G>A	12.37:g.21014072G>A		NA		37	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456291	0.63401	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000540229	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	3.53	3.53	0.40419	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.536026	0.18710	N	0.133308	T	0.18759	0.0450	N	0.05177	-0.1	0.80722	D	1	P;P	0.37015	0.536;0.578	B;B	0.41412	0.288;0.356	T	0.03761	-1.1006	10	0.23302	T	0.38	.	6.6772	0.23100	0.13:0.0:0.87:0.0	.	161;161	Q5JAR4;Q9NPD5	.;SO1B3_HUMAN	N	161	ENSP00000442000:D161N;ENSP00000261196:D161N;ENSP00000370956:D161N;ENSP00000451758:D161N;ENSP00000441269:D161N	ENSP00000441269:D161N	D	+	1	0	SLCO1B3;RP11-545J16.1	20905339	1.000000	0.71417	0.988000	0.46212	0.630000	0.37929	4.956000	0.63645	1.810000	0.52873	0.467000	0.42956	GAT	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401936.1	Missense_Mutation	+	ENST00000381545.3	Splice_Site	SNP	12 : 21014072 - 21014072 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	172	33
PCDHB7	56129	broad.mit.edu	37	5	140553378	140553378	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140553378C>T	ENST00000231137.3	+	1	1136	c.962C>T	c.(961-963)gCc>gTc	p.A321V		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	321	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTATTCAGGCCAAAGACGGC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	67	66			NA	NA	5		NA											NA				140553378		2203	4300	6503	SO:0001583	missense			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212	56129	56129		Cadherins / Protocadherins : Clustered	8692	other	protocadherin		606333			NA	10380929	Standard	NM_018940	NM_018940	NA	Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.962C>T	5.37:g.140553378C>T	ENSP00000231137:p.Ala321Val	NA		37	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165954	0.57476	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.73363	-0.74	4.61	3.66	0.41972	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.84306	0.5443	M	0.73217	2.22	0.43214	D	0.995083	D	0.89917	1.0	D	0.83275	0.996	D	0.86381	0.1729	9	0.87932	D	0	.	14.0288	0.64601	0.0:0.8476:0.1524:0.0	.	321	Q9Y5E2	PCDB7_HUMAN	V	321;104	ENSP00000231137:A321V	ENSP00000231137:A321V	A	+	2	0	PCDHB7	140533562	1.000000	0.71417	0.998000	0.56505	0.488000	0.33401	4.882000	0.63121	2.244000	0.73946	0.650000	0.86243	GCC	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251803.2		+	ENST00000231137.3	Missense_Mutation	SNP	5 : 140553378 - 140553378 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	427	79
DLAT	1737	broad.mit.edu	37	11	111916599	111916599	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111916599C>T	ENST00000393051.1	+	8	1021	c.988C>T	c.(988-990)Cga>Tga	p.R330*	DLAT_ENST00000537636.1_Nonsense_Mutation_p.R206*|DLAT_ENST00000280346.6_Nonsense_Mutation_p.R435*			P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	435					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	TATTGCACAGCGATTAATGCA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	76	79			NA	NA	11		NA											NA				111916599		2201	4296	6497	SO:0001587	stop_gained			Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	1737	1737	2.3.1.12		2896	protein-coding gene	gene with protein product	E2 component of pyruvate dehydrogenase complex	608770		DLTA	NA	8102256	Standard	NM_001931	NM_001931	NA	Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000393051.1:c.988C>T	11.37:g.111916599C>T	ENSP00000376771:p.Arg330*	NA	Q16783|Q53EP3	37		.	.	.	.	.	.	.	.	.	.	C	36	5.916536	0.97099	.	.	ENSG00000150768	ENST00000280346;ENST00000393051;ENST00000531306;ENST00000537636	.	.	.	5.78	2.82	0.32997	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.5003	9.6723	0.40019	0.3675:0.5686:0.0:0.064	.	.	.	.	X	435;330;267;206	.	ENSP00000280346:R435X	R	+	1	2	DLAT	111421809	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.463000	0.45058	0.323000	0.23307	-0.140000	0.14226	CGA	DLAT-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000258168.1		+	ENST00000393051.1	Nonsense_Mutation	SNP	11 : 111916599 - 111916599 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	209	34
TRPC5	7224	broad.mit.edu	37	X	111155577	111155577	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:111155577G>A	ENST00000262839.2	-	3	1760	c.842C>T	c.(841-843)cCt>cTt	p.P281L		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	281					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTACTTCTGAGGGTCAAGCTC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													214	172	186			NA	NA	X		NA											NA				111155577		2203	4300	6503	SO:0001583	missense			AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315	7224	7224		Voltage-gated ion channels / Transient receptor potential cation channels	12337	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 159	300334			NA	10493832, 16382100	Standard	NM_012471	NM_012471	NA	Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.842C>T	X.37:g.111155577G>A	ENSP00000262839:p.Pro281Leu	NA	B2RP53|O75233|Q5JXY8|Q9Y514	37	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655314	0.47467	.	.	ENSG00000072315	ENST00000262839	T	0.62498	0.02	6.17	6.17	0.99709	.	0.163888	0.53938	D	0.000042	T	0.54791	0.1880	L	0.33339	1.005	0.80722	D	1	B;B	0.11235	0.001;0.004	B;B	0.12837	0.003;0.008	T	0.45818	-0.9235	10	0.23891	T	0.37	-35.0497	19.7362	0.96205	0.0:0.0:1.0:0.0	.	282;281	Q59G51;Q9UL62	.;TRPC5_HUMAN	L	281	ENSP00000262839:P281L	ENSP00000262839:P281L	P	-	2	0	TRPC5	111042233	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.273000	0.43381	2.618000	0.88619	0.600000	0.82982	CCT	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057945.1		-	ENST00000262839.2	Missense_Mutation	SNP	X : 111155577 - 111155577 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	618	173
MAP1A	4130	broad.mit.edu	37	15	43816613	43816613	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43816613A>G	ENST00000382031.1	+	5	3687	c.3656A>G	c.(3655-3657)gAg>gGg	p.E1219G	MAP1A_ENST00000300231.5_Missense_Mutation_p.E981G|MAP1A_ENST00000399453.1_Missense_Mutation_p.E981G			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	981						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGAGAAGCAGAGGAGCGGTGC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	115	114			NA	NA	15		NA											NA				43816613		2065	4197	6262	SO:0001583	missense			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963	4130	4130			6835	protein-coding gene	gene with protein product		600178		MAP1L	NA	7806212, 7629894	Standard	NM_002373	XM_005254385	NA	Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000382031.1:c.3656A>G	15.37:g.43816613A>G	ENSP00000371462:p.Glu1219Gly	NA	O95643|Q12973|Q15882|Q9UJT4	37		.	.	.	.	.	.	.	.	.	.	A	12.94	2.087952	0.36855	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.02032	4.5;4.49;4.49	5.1	5.1	0.69264	.	.	.	.	.	T	0.13200	0.0320	M	0.81497	2.545	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	T	0.00249	-1.1879	9	0.66056	D	0.02	-20.7677	15.0596	0.71942	1.0:0.0:0.0:0.0	.	981	P78559	MAP1A_HUMAN	G	1219;981;981	ENSP00000371462:E1219G;ENSP00000382380:E981G;ENSP00000300231:E981G	ENSP00000300231:E981G	E	+	2	0	MAP1A	41603905	1.000000	0.71417	0.996000	0.52242	0.518000	0.34316	8.729000	0.91490	2.137000	0.66172	0.533000	0.62120	GAG	MAP1A-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000132895.2		+	ENST00000382031.1	Missense_Mutation	SNP	15 : 43816613 - 43816613 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	802	135
HCFC1	3054	broad.mit.edu	37	X	153221812	153221812	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153221812C>T	ENST00000369984.4	-	16	3029	c.2686G>A	c.(2686-2688)Ggg>Agg	p.G896R	HCFC1_ENST00000354233.3_Missense_Mutation_p.G827R|HCFC1_ENST00000310441.7_Missense_Mutation_p.G896R			P51610	HCFC1_HUMAN	host cell factor C1	896	Interaction with GABP2.|Interaction with ZBTB17.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCCCCGCCCCGGCAAGGCTG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	88	84			NA	NA	X		NA											NA				153221812		2186	4260	6446	SO:0001583	missense				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534	3054	3054			4839	protein-coding gene	gene with protein product	VP16-accessory protein, protein phosphatase 1, regulatory subunit 89	300019	mental retardation, X-linked 3, host cell factor C1 (VP16-accessory protein)	HFC1, MRX3	NA	8392914, 23000143	Standard	NM_005334	XM_005274664	NA	Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000369984.4:c.2686G>A	X.37:g.153221812C>T	ENSP00000359001:p.Gly896Arg	NA	Q6P4G5	37		.	.	.	.	.	.	.	.	.	.	C	20.2	3.944006	0.73672	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.03831	3.91;3.97;3.79	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.12561	0.0305	L	0.27053	0.805	0.53005	D	0.999962	D	0.89917	1.0	D	0.69307	0.963	T	0.04607	-1.0939	10	0.72032	D	0.01	.	16.8335	0.85951	0.0:1.0:0.0:0.0	.	896	P51610	HCFC1_HUMAN	R	896;896;827	ENSP00000309555:G896R;ENSP00000359001:G896R;ENSP00000346174:G827R	ENSP00000309555:G896R	G	-	1	0	HCFC1	152875006	1.000000	0.71417	0.651000	0.29564	0.119000	0.20118	7.373000	0.79623	2.236000	0.73375	0.529000	0.55759	GGG	HCFC1-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000061101.3		-	ENST00000369984.4	Missense_Mutation	SNP	X : 153221812 - 153221812 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	520	136
MR1	3140	broad.mit.edu	37	1	181003204	181003204	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181003204G>A	ENST00000367580.5	+	1	66	c.61G>A	c.(61-63)Gat>Aat	p.D21N	MR1_ENST00000438435.2_3'UTR|MR1_ENST00000434571.2_Missense_Mutation_p.D21N|MR1_ENST00000367579.3_Missense_Mutation_p.D21N|MR1_ENST00000282990.6_Missense_Mutation_p.D21N	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	21					antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						GAAGCACAGCGATTCCCGTGA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(174;1412 1962 45296 46549 47110)							NA				0													137	116	123			NA	NA	1		NA											NA				181003204		2203	4300	6503	SO:0001583	missense			AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029	3140	3140		Immunoglobulin superfamily / C1-set domain containing	4975	protein-coding gene	gene with protein product		600764	major histocompatibility complex, class I-like sequence	HLALS	NA	7624800, 9784382	Standard	NM_001531	NM_001194999	NA	Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.61G>A	1.37:g.181003204G>A	ENSP00000356552:p.Asp21Asn	NA	A8K2V9|O97985|O97986|Q53GM1|Q95HB8|Q9NPL2|Q9TQB9|Q9TQK3	37	CCDS1342.1	.	.	.	.	.	.	.	.	.	.	G	7.895	0.733194	0.15574	.	.	ENSG00000153029	ENST00000434571;ENST00000367580;ENST00000282990;ENST00000367579	T;T;T;T	0.00932	6.12;6.01;5.87;5.53	3.64	-3.93	0.04143	.	1.619240	0.03737	N	0.254405	T	0.00784	0.0026	L	0.31065	0.9	0.21290	N	0.999739	B;B;P;B;B	0.46327	0.002;0.002;0.876;0.001;0.001	B;B;B;B;B	0.34652	0.001;0.001;0.187;0.001;0.001	T	0.51371	-0.8714	9	0.23891	T	0.37	.	7.6435	0.28307	0.6424:0.1687:0.189:0.0	.	21;21;21;21;21	B4E3B1;Q95460-3;Q95460-2;Q95460;Q95460-4	.;.;.;HMR1_HUMAN;.	N	21	ENSP00000388504:D21N;ENSP00000356552:D21N;ENSP00000282990:D21N;ENSP00000356551:D21N	ENSP00000282990:D21N	D	+	1	0	MR1	179269827	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.433000	0.06948	-0.986000	0.03498	-1.578000	0.00866	GAT	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085134.2		+	ENST00000367580.5	Missense_Mutation	SNP	1 : 181003204 - 181003204 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	243	38
ACSM2A	123876	broad.mit.edu	37	16	20476939	20476939	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20476939C>T	ENST00000573854.1	+	3	392	c.278C>T	c.(277-279)gCa>gTa	p.A93V	ACSM2A_ENST00000575690.1_Missense_Mutation_p.A93V|ACSM2A_ENST00000424070.1_Missense_Mutation_p.A93V|ACSM2A_ENST00000219054.6_Missense_Mutation_p.A93V|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000396104.2_Missense_Mutation_p.A93V|ACSM2A_ENST00000417235.2_Missense_Mutation_p.A14V|ACSM2A_ENST00000575558.1_3'UTR	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	93					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AGCCAGCAGGCAGCCAACGTC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	112	117			NA	NA	16		NA											NA				20476939		2203	4300	6503	SO:0001583	missense			AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747	123876	123876		Acyl-CoA synthetase family	32017	protein-coding gene	gene with protein product		614358	acyl-CoA synthetase medium-chain family member 2	ACSM2	NA		Standard	NM_001010845	NM_001010845	NA	Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.278C>T	16.37:g.20476939C>T	ENSP00000459451:p.Ala93Val	NA	B3KTT9|O75202	37	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860063	0.32884	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000424070;ENST00000396104	T;T;T;T	0.37411	1.2;1.2;1.2;1.2	3.76	1.74	0.24563	AMP-dependent synthetase/ligase (1);	0.686726	0.12607	N	0.454202	T	0.15089	0.0364	N	0.17312	0.475	0.23174	N	0.998176	B;B	0.34290	0.174;0.447	B;B	0.26202	0.046;0.067	T	0.20505	-1.0273	10	0.02654	T	1	-0.3522	7.392	0.26915	0.0:0.6887:0.0:0.3113	.	14;93	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	V	14;93;93;93	ENSP00000392169:A14V;ENSP00000219054:A93V;ENSP00000394904:A93V;ENSP00000379411:A93V	ENSP00000219054:A93V	A	+	2	0	ACSM2A	20384440	0.010000	0.17322	0.051000	0.19133	0.453000	0.32348	0.333000	0.19768	0.200000	0.20447	0.298000	0.19748	GCA	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000436764.1		+	ENST00000573854.1	Missense_Mutation	SNP	16 : 20476939 - 20476939 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	341	26
ANO3	63982	broad.mit.edu	37	11	26619917	26619917	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26619917G>T	ENST00000256737.3	+	15	2305	c.1453G>T	c.(1453-1455)Gtc>Ttc	p.V485F	ANO3_ENST00000525139.1_Missense_Mutation_p.V469F|ANO3_ENST00000537978.1_Missense_Mutation_p.V469F|ANO3_ENST00000531568.1_Missense_Mutation_p.V339F	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	485						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TATAGCCACAGTCTTCCTGGA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	84	83			NA	NA	11		NA											NA				26619917		2203	4299	6502	SO:0001583	missense			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343	63982	63982		Ion channels / Chloride channels : Calcium activated : Anoctamins	14004	protein-coding gene	gene with protein product	transmembrane protein 16C (eight membrane-spanning domains)	610110	chromosome 11 open reading frame 25, transmembrane protein 16C	C11orf25, TMEM16C	NA	12739008, 15067359, 23200863, 24692353	Standard	NM_031418	NM_031418	NA	Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1453G>T	11.37:g.26619917G>T	ENSP00000256737:p.Val485Phe	NA		37	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723830	0.68959	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.74207	0.3686	L	0.45137	1.4	0.80722	D	1	D;P	0.76494	0.999;0.928	D;P	0.73708	0.981;0.667	T	0.72659	-0.4226	10	0.45353	T	0.12	.	19.703	0.96063	0.0:0.0:1.0:0.0	.	387;485	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	F	469;469;485;387;339	ENSP00000440737:V469F;ENSP00000432576:V469F;ENSP00000256737:V485F;ENSP00000432394:V339F	ENSP00000256737:V485F	V	+	1	0	ANO3	26576493	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.033000	0.93741	2.660000	0.90430	0.655000	0.94253	GTC	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387806.1		+	ENST00000256737.3	Missense_Mutation	SNP	11 : 26619917 - 26619917 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	484	81
MAGI2	9863	broad.mit.edu	37	7	77756523	77756523	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77756523T>G	ENST00000354212.4	-	19	3667	c.3414A>C	c.(3412-3414)agA>agC	p.R1138S	MAGI2_ENST00000522391.1_Missense_Mutation_p.R1138S|MAGI2_ENST00000419488.1_Missense_Mutation_p.R1124S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1138						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CCTGGGGTTGTCTGTAGTCCG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	85	84			NA	NA	7		NA											NA				77756523		2203	4300	6503	SO:0001583	missense			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391	9863	9863			18957	protein-coding gene	gene with protein product		606382			NA	10681527, 9734811	Standard	NM_012301	XM_005250725	NA	Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.3414A>C	7.37:g.77756523T>G	ENSP00000346151:p.Arg1138Ser	NA	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	37	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.744693	0.49151	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.16073	2.37;2.37;2.37	5.33	3.52	0.40303	PDZ/DHR/GLGF (1);	0.000000	0.39544	U	0.001328	T	0.24353	0.0590	L	0.27053	0.805	0.80722	D	1	D;P;D	0.63880	0.981;0.73;0.993	D;B;D	0.72338	0.966;0.391;0.977	T	0.01323	-1.1385	10	0.41790	T	0.15	.	8.78	0.34785	0.0:0.6451:0.0:0.3549	.	1138;1124;1138	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	S	1124;1138;1138;1138	ENSP00000405766:R1124S;ENSP00000346151:R1138S;ENSP00000428389:R1138S	ENSP00000346151:R1138S	R	-	3	2	MAGI2	77594459	0.921000	0.31238	1.000000	0.80357	0.987000	0.75469	0.043000	0.13971	0.733000	0.32492	-0.132000	0.14878	AGA	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253197.3		-	ENST00000354212.4	Missense_Mutation	SNP	7 : 77756523 - 77756523 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	563	50
FBLN7	129804	broad.mit.edu	37	2	112942917	112942917	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112942917G>A	ENST00000409903.1	+	7	1177		c.e7+1		FBLN7_ENST00000331203.2_Splice_Site|FBLN7_ENST00000409667.3_Splice_Site|FBLN7_ENST00000409450.3_Splice_Site			Q53RD9	FBLN7_HUMAN	fibulin 7	NA					cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CGTCTCCATTGTGAGTATCTC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	76	81			NA	NA	2		NA											NA				112942917		2203	4300	6503	SO:0001630	splice_region_variant				CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152	129804	129804		Fibulins	26740	protein-coding gene	gene with protein product		611551			NA	17699513	Standard	NM_153214	NM_153214	NA	Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000409903.1:c.947+1G>A	2.37:g.112942917G>A		NA	A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	37		.	.	.	.	.	.	.	.	.	.	G	17.92	3.507593	0.64410	.	.	ENSG00000144152	ENST00000331203;ENST00000409903;ENST00000409667;ENST00000409450;ENST00000441565;ENST00000272559	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7029	0.91627	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FBLN7	112659388	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	9.268000	0.95675	2.513000	0.84729	0.561000	0.74099	.	FBLN7-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000330506.1	Intron	+	ENST00000409903.1	Splice_Site	SNP	2 : 112942917 - 112942917 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	386	21
PDZRN4	29951	broad.mit.edu	37	12	41900458	41900458	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41900458G>T	ENST00000298919.7	+	4	652	c.264G>T	c.(262-264)aaG>aaT	p.K88N	PDZRN4_ENST00000402685.2_Missense_Mutation_p.K348N|PDZRN4_ENST00000539469.2_Missense_Mutation_p.K90N			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	348							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CTCTGGCCAAGCTTCGTCCAC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	138	147			NA	NA	12		NA											NA				41900458		2203	4300	6503	SO:0001583	missense			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966	29951	29951		RING-type (C3HC4) zinc fingers	30552	protein-coding gene	gene with protein product	similar to semaF cytoplasmic domain associated protein 3	609730			NA	11230166, 15010864	Standard	NM_013377	NM_013377	NA	Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000298919.7:c.264G>T	12.37:g.41900458G>T	ENSP00000298919:p.Lys88Asn	NA	Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	37		.	.	.	.	.	.	.	.	.	.	G	15.00	2.702531	0.48307	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.73789	-0.78;3.66;3.66	5.08	1.88	0.25563	.	3.044700	0.01135	N	0.006067	D	0.87273	0.6136	M	0.80183	2.485	0.49798	D	0.999824	D;P;P	0.89917	1.0;0.635;0.517	D;B;B	0.73708	0.981;0.347;0.317	T	0.69386	-0.5159	10	0.66056	D	0.02	-39.6877	10.0306	0.42099	0.4541:0.0:0.5459:0.0	.	348;88;90	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	N	348;90;88	ENSP00000384197:K348N;ENSP00000439990:K90N;ENSP00000298919:K88N	ENSP00000298919:K88N	K	+	3	2	PDZRN4	40186725	1.000000	0.71417	0.980000	0.43619	0.695000	0.40330	1.398000	0.34554	0.242000	0.21303	-0.251000	0.11542	AAG	PDZRN4-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000403703.1		+	ENST00000298919.7	Missense_Mutation	SNP	12 : 41900458 - 41900458 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	399	57
FAM13B	51306	broad.mit.edu	37	5	137354186	137354186	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137354186C>T	ENST00000033079.3	-	4	626	c.175G>A	c.(175-177)Gga>Aga	p.G59R	FAM13B_ENST00000425075.2_5'UTR|FAM13B_ENST00000420893.2_Missense_Mutation_p.G59R	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	59	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						TGAAAAAGTCCTTGTTGCTCC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	118	121			NA	NA	5		NA											NA				137354186		2203	4300	6503	SO:0001583	missense			AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003	NA	51306		Rho GTPase activating proteins	1335	protein-coding gene	gene with protein product		609371	chromosome 5 open reading frame 5, family with sequence similarity 13, member B1	C5orf5, FAM13B1	NA	11087669, 11161817	Standard		NM_016603	NA	Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.175G>A	5.37:g.137354186C>T	ENSP00000033079:p.Gly59Arg	NA	D3DQB5|Q6PGQ2|Q9P0I7	37	CCDS4195.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452507	0.84209	.	.	ENSG00000031003	ENST00000033079;ENST00000420893;ENST00000514310;ENST00000502471;ENST00000509596;ENST00000508403	T;T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16;0.16	5.91	5.91	0.95273	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	D	0.83538	0.5276	M	0.93150	3.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.992;0.998	D	0.86755	0.1963	10	0.87932	D	0	-16.8533	20.2963	0.98556	0.0:1.0:0.0:0.0	.	59;59	Q9NYF5-2;Q9NYF5	.;FA13B_HUMAN	R	59	ENSP00000033079:G59R;ENSP00000388521:G59R;ENSP00000425326:G59R;ENSP00000424785:G59R;ENSP00000422311:G59R;ENSP00000426863:G59R	ENSP00000033079:G59R	G	-	1	0	FAM13B	137382085	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.162000	0.77515	2.813000	0.96785	0.655000	0.94253	GGA	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251279.1		-	ENST00000033079.3	Missense_Mutation	SNP	5 : 137354186 - 137354186 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	555	35
EEF1A2	1917	broad.mit.edu	37	20	62120272	62120272	+	Splice_Site	SNP	G	G	A	rs115107511	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62120272G>A	ENST00000298049.7	-	6	1333	c.1263C>T	c.(1261-1263)ctC>ctT	p.L421L	EEF1A2_ENST00000217182.3_Splice_Site_p.L421L			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	421						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CCGGCTCACCGAGAGGCGGGT	0.672		NA											G	8	0.0037	0.01	0.01	2184	NA	0.9992	,	,	NA	6e-04	NA	NA	NA	0.004	0.9231	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0										49,4317		0,49,2134	23	25	24		1263	-1	1	20	dbSNP_132	24	3,8521		0,3,4259	no	coding-synonymous-near-splice	EEF1A2	NM_001958.2		0,52,6393	AA,AG,GG	NA	0.0352,1.1223,0.4034		421/464	62120272	52,12838	2183	4262	6445	SO:0001630	splice_region_variant			AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210	1917	1917			3192	protein-coding gene	gene with protein product		602959	statin-like, statin	STNL, STN	NA	8354261, 8812466	Standard	NM_001958	NM_001958	NA	Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.1264+1C>T	20.37:g.62120272G>A		NA	B5BUF3|E1P5J1|P54266|Q0VGC7	37	CCDS13522.1																																																																																			EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080495.1	Silent	-	ENST00000298049.7	Splice_Site	SNP	20 : 62120272 - 62120272 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	258	44
HEPACAM2	253012	broad.mit.edu	37	7	92838007	92838007	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92838007C>A	ENST00000394468.2	-	4	975	c.898G>T	c.(898-900)Gaa>Taa	p.E300*	HEPACAM2_ENST00000453812.2_Nonsense_Mutation_p.E323*|HEPACAM2_ENST00000440868.1_Nonsense_Mutation_p.E288*|HEPACAM2_ENST00000341723.4_Nonsense_Mutation_p.E288*	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	300	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GATGCAACTTCTAAGCGAGGC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	150	156			NA	NA	7		NA											NA				92838007		2203	4300	6503	SO:0001587	stop_gained			AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175	253012	253012		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	27364	protein-coding gene	gene with protein product		614133			NA	12975309	Standard	NM_198151	NM_001288804	NA	Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.898G>T	7.37:g.92838007C>A	ENSP00000377980:p.Glu300*	NA	B3KTT4|B9EG93|Q6UXI0	37	CCDS43616.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929985	0.92389	.	.	ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000440868;ENST00000453812	.	.	.	5.23	4.28	0.50868	.	0.047731	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-25.2396	9.6034	0.39619	0.0:0.7803:0.1439:0.0758	.	.	.	.	X	300;288;288;323	.	ENSP00000340532:E288X	E	-	1	0	HEPACAM2	92675943	1.000000	0.71417	0.984000	0.44739	0.701000	0.40568	4.060000	0.57477	2.826000	0.97356	0.655000	0.94253	GAA	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254651.1		-	ENST00000394468.2	Nonsense_Mutation	SNP	7 : 92838007 - 92838007 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	482	96
LAMA4	3910	broad.mit.edu	37	6	112476778	112476778	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112476778G>A	ENST00000230538.7	-	15	2345	c.1948C>T	c.(1948-1950)Cga>Tga	p.R650*	RP1-142L7.5_ENST00000588689.1_RNA|LAMA4_ENST00000424408.2_Nonsense_Mutation_p.R643*|LAMA4_ENST00000522006.1_Nonsense_Mutation_p.R643*|RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000389463.4_Nonsense_Mutation_p.R643*|RP1-142L7.5_ENST00000425503.1_RNA	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	650	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCATAAATTCGGTCAGTGGTG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	128	130			NA	NA	6		NA											NA				112476778		2203	4300	6503	SO:0001587	stop_gained				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769	3910	3910		Laminins	6484	protein-coding gene	gene with protein product		600133			NA	7959779	Standard	NM_001105206	NM_001105206	NA	Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1948C>T	6.37:g.112476778G>A	ENSP00000230538:p.Arg650*	NA	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	37	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	42	9.576240	0.99210	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	.	.	.	5.42	2.35	0.29111	.	0.213448	0.44902	D	0.000405	.	.	.	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6393	0.56700	0.0:0.0:0.5638:0.4362	.	.	.	.	X	650;643;643;643	.	ENSP00000230538:R650X	R	-	1	2	LAMA4	112583471	1.000000	0.71417	0.949000	0.38748	0.858000	0.48976	1.637000	0.37155	0.799000	0.34018	0.563000	0.77884	CGA	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041876.2		-	ENST00000230538.7	Nonsense_Mutation	SNP	6 : 112476778 - 112476778 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	542	104
IL21R	50615	broad.mit.edu	37	16	27460438	27460438	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27460438G>A	ENST00000337929.3	+	9	1924	c.1451G>A	c.(1450-1452)gGc>gAc	p.G484D	IL21R_ENST00000395754.4_Missense_Mutation_p.G484D|IL21R_ENST00000564089.1_Missense_Mutation_p.G484D|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395755.1_Missense_Mutation_p.G484D	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	484			G -> S (in dbSNP:rs3093386).		natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CCCCTGGCCGGCCTGGATATG	0.677		NA	T	BCL6	NHL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		16	16p11	50615	interleukin 21 receptor		L	0													42	39	40			NA	NA	16		NA											NA				27460438		2197	4300	6497	SO:0001583	missense			AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522	50615	50615		Interleukins and interleukin receptors, CD molecules	6006	protein-coding gene	gene with protein product		605383			NA	11081504	Standard	NM_181078	NM_181078	NA	Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.1451G>A	16.37:g.27460438G>A	ENSP00000338010:p.Gly484Asp	NA	A8K9E8|D3DWF7|Q96HZ1|Q9HB91	37	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359155	0.61403	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	T;T;T	0.15372	2.43;2.43;2.43	4.9	3.93	0.45458	.	0.231408	0.37437	N	0.002082	T	0.28400	0.0702	M	0.63428	1.95	0.34257	D	0.67947	D	0.57571	0.98	P	0.53649	0.731	T	0.43940	-0.9360	10	0.49607	T	0.09	-30.5288	10.9479	0.47312	0.0:0.2238:0.7762:0.0	.	484	Q9HBE5	IL21R_HUMAN	D	484	ENSP00000338010:G484D;ENSP00000379104:G484D;ENSP00000379103:G484D	ENSP00000338010:G484D	G	+	2	0	IL21R	27367939	0.954000	0.32549	0.979000	0.43373	0.803000	0.45373	2.135000	0.42112	1.013000	0.39391	0.561000	0.74099	GGC	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254578.2		+	ENST00000337929.3	Missense_Mutation	SNP	16 : 27460438 - 27460438 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	418	38
SLC28A1	9154	broad.mit.edu	37	15	85488368	85488368	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85488368G>A	ENST00000286749.3	+	18	1977	c.1887G>A	c.(1885-1887)gaG>gaA	p.E629E	SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000394573.1_Silent_p.E629E|SLC28A1_ENST00000537624.1_Intron|SLC28A1_ENST00000538177.1_Silent_p.E463E			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	629					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCAATCCAGAGTTCAGCCCAG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4405	2.1+/-5.4	0,1,2202	145	127	133		1887	1.2	0	15		133	0,8598		0,0,4299	no	coding-synonymous	SLC28A1	NM_004213.3		0,1,6501	AA,AG,GG	NA	0.0,0.0227,0.0077		629/650	85488368	1,13003	2203	4299	6502	SO:0001819	synonymous_variant			U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222	9154	9154		Solute carriers	11001	protein-coding gene	gene with protein product		606207	solute carrier family 28 (sodium-coupled nucleoside transporter), member 1		NA	9124315	Standard		NM_004213	NA	Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1887G>A	15.37:g.85488368G>A		NA	A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	37	CCDS10334.1																																																																																			SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000308998.2		+	ENST00000286749.3	Silent	SNP	15 : 85488368 - 85488368 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	307	24
INO80C	125476	broad.mit.edu	37	18	33060428	33060428	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33060428G>A	ENST00000586489.1	-	2	243	c.91C>T	c.(91-93)Ccc>Tcc	p.P31S	INO80C_ENST00000334598.7_Missense_Mutation_p.P86S|INO80C_ENST00000441607.2_Missense_Mutation_p.P122S|INO80C_ENST00000590757.1_Intron|INO80C_ENST00000592173.1_Missense_Mutation_p.P86S|RP11-322E11.6_ENST00000589258.1_Intron			Q6PI98	IN80C_HUMAN	INO80 complex subunit C	86					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						ACAAAGTTGGGATCCTTAAAT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	152	158			NA	NA	18		NA											NA				33060428		2203	4300	6503	SO:0001583	missense				CCDS11914.1, CCDS45853.1	18q12.2	2011-07-06	2008-08-07	2008-08-07	ENSG00000153391	ENSG00000153391	125476	125476		INO80 complex subunits	26994	protein-coding gene	gene with protein product	IES6 homolog (S. cerevisiae)		chromosome 18 open reading frame 37	C18orf37	NA	16230350	Standard	NM_194281	NM_001098817	NA	Approved	FLJ38183, hIes6, IES6	uc010dmt.3	Q6PI98	OTTHUMG00000132564	ENST00000586489.1:c.91C>T	18.37:g.33060428G>A	ENSP00000464948:p.Pro31Ser	NA	Q86WR1|Q8N994	37		.	.	.	.	.	.	.	.	.	.	G	16.51	3.142462	0.57044	.	.	ENSG00000153391	ENST00000283410;ENST00000441607;ENST00000334598	.	.	.	6.02	6.02	0.97574	.	0.058844	0.64402	D	0.000001	T	0.73753	0.3627	L	0.52573	1.65	0.58432	D	0.999994	D;B;D	0.76494	0.958;0.172;0.999	P;B;D	0.68943	0.63;0.062;0.961	T	0.71938	-0.4441	9	0.46703	T	0.11	.	16.0374	0.80640	0.0:0.0:1.0:0.0	.	122;86;86	E9PCS7;Q6PI98;Q6PI98-3	.;IN80C_HUMAN;.	S	86;122;86	.	ENSP00000283410:P86S	P	-	1	0	INO80C	31314426	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	6.061000	0.71148	2.857000	0.98124	0.650000	0.86243	CCC	INO80C-009	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000442847.1		-	ENST00000586489.1	Missense_Mutation	SNP	18 : 33060428 - 33060428 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	453	79
SCAMP5	192683	broad.mit.edu	37	15	75310804	75310804	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75310804G>A	ENST00000361900.6	+	7	648	c.441G>A	c.(439-441)tcG>tcA	p.S147S	SCAMP5_ENST00000545456.1_Silent_p.S76S|SCAMP5_ENST00000568081.1_Silent_p.S80S|SCAMP5_ENST00000425597.3_Silent_p.S147S|SCAMP5_ENST00000562212.1_Silent_p.S155S	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	147					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						ACATTGGCTCGGCGGTGGTGA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	163	167			NA	NA	15		NA											NA				75310804		2031	4187	6218	SO:0001819	synonymous_variant			AL833230	CCDS45306.1	15q24.2	2014-05-20			ENSG00000198794	ENSG00000198794	192683	192683		Secretory carrier membrane proteins	30386	protein-coding gene	gene with protein product		613766			NA	12477932	Standard	NM_138967	NM_001178111	NA	Approved	MGC24969	uc002azk.2	Q8TAC9	OTTHUMG00000172704	ENST00000361900.6:c.441G>A	15.37:g.75310804G>A		NA	B3KPJ7|B7Z762|D3DW71|Q8N3M4	37	CCDS45306.1																																																																																			SCAMP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000420015.2		+	ENST00000361900.6	Silent	SNP	15 : 75310804 - 75310804 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1206	194
GSE1	23199	broad.mit.edu	37	16	85691142	85691142	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85691142G>A	ENST00000253458.7	+	8	1748	c.1572G>A	c.(1570-1572)gaG>gaA	p.E524E	GSE1_ENST00000393243.1_Silent_p.E451E|GSE1_ENST00000405402.2_Silent_p.E420E	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein	NA											NA						AGGTGCTGGAGCAGCACCTGG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	15	14			NA	NA	16		NA											NA				85691142		2169	4280	6449	SO:0001819	synonymous_variant			D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149	23199	23199			28979	protein-coding gene	gene with protein product	genetic suppressor element 1		KIAA0182, Gse1 coiled-coil protein homolog (mouse)	KIAA0182	NA	8724849, 8786132	Standard	NM_014615	NM_014615	NA	Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.1572G>A	16.37:g.85691142G>A		NA		37	CCDS10952.1	.	.	.	.	.	.	.	.	.	.	G	8.140	0.785038	0.16189	.	.	ENSG00000131149	ENST00000412692	.	.	.	5.07	4.1	0.47936	.	.	.	.	.	T	0.72374	0.3452	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70378	-0.4888	4	.	.	.	-29.4069	16.6117	0.84885	0.0706:0.0:0.9294:0.0	.	.	.	.	N	331	.	.	S	+	2	0	KIAA0182	84248643	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	7.570000	0.82390	0.552000	0.29026	-1.134000	0.01955	AGC	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325527.1		+	ENST00000253458.7	Silent	SNP	16 : 85691142 - 85691142 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	121	30
PDZD7	79955	broad.mit.edu	37	10	102783309	102783309	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102783309C>A	ENST00000370215.3	-	4	651	c.426G>T	c.(424-426)gaG>gaT	p.E142D	PDZD7_ENST00000470414.1_Missense_Mutation_p.E142D	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	142	PDZ 1.					cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		TGGTGGTGCTCTCCAGGCTCA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	66	70			NA	NA	10		NA											NA				102783309		2203	4300	6503	SO:0001583	missense			AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862	79955	79955			26257	protein-coding gene	gene with protein product		612971		PDZK7	NA	12477932	Standard	NM_024895	NM_024895	NA	Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.426G>T	10.37:g.102783309C>A	ENSP00000359234:p.Glu142Asp	NA	D5FJ77|Q8N321	37	CCDS31269.1	.	.	.	.	.	.	.	.	.	.	c	13.96	2.391612	0.42410	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.30182	1.54	5.05	2.2	0.27929	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.29882	0.0747	N	0.25060	0.705	0.44890	D	0.997906	P;B	0.41947	0.766;0.096	P;B	0.50440	0.641;0.038	T	0.01352	-1.1377	10	0.36615	T	0.2	.	12.6631	0.56826	0.0:0.8225:0.0:0.1775	.	142;142	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	D	142	ENSP00000359234:E142D	ENSP00000359234:E142D	E	-	3	2	PDZD7	102773299	1.000000	0.71417	0.998000	0.56505	0.050000	0.14768	2.198000	0.42705	-0.039000	0.13602	-2.721000	0.00131	GAG	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049883.1		-	ENST00000370215.3	Missense_Mutation	SNP	10 : 102783309 - 102783309 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	419	84
COPA	1314	broad.mit.edu	37	1	160312937	160312937	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160312937C>A	ENST00000241704.7	-	1	253	c.24G>T	c.(22-24)aaG>aaT	p.K8N	COPA_ENST00000368069.3_Missense_Mutation_p.K8N	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	8					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCCGCGCGCTCTTGGTCTCGA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													185	195	191			NA	NA	1		NA											NA				160312937		2203	4300	6503	SO:0001583	missense			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218	1314	1314		WD repeat domain containing, Endogenous ligands	2230	protein-coding gene	gene with protein product	proxenin, xenin	601924			NA	8647451	Standard	NM_004371	NM_004371	NA	Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.24G>T	1.37:g.160312937C>A	ENSP00000241704:p.Lys8Asn	NA	Q5T201|Q8IXZ9	37	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270903	0.80469	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.80994	-1.44;-1.44	4.99	3.09	0.35607	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.049517	0.85682	D	0.000000	D	0.85031	0.5604	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.79108	0.992;0.971	D	0.85280	0.1061	10	0.87932	D	0	-17.2707	7.1259	0.25471	0.0:0.7243:0.0:0.2757	.	8;8	P53621;P53621-2	COPA_HUMAN;.	N	8	ENSP00000357048:K8N;ENSP00000241704:K8N	ENSP00000241704:K8N	K	-	3	2	COPA	158579561	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.516000	0.35856	0.658000	0.30925	0.655000	0.94253	AAG	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080638.1		-	ENST00000241704.7	Missense_Mutation	SNP	1 : 160312937 - 160312937 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1123	412
AHNAK2	113146	broad.mit.edu	37	14	105408319	105408319	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105408319G>A	ENST00000557457.1	-	2	24				AHNAK2_ENST00000333244.5_Missense_Mutation_p.A4490V			Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	NA						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CATCTTTGGCGCAGACACATC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	172	170			NA	NA	14		NA											NA				105408319		2040	4187	6227	SO:0001627	intron_variant			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567	113146	113146			20125	protein-coding gene	gene with protein product		608570	chromosome 14 open reading frame 78	C14orf78	NA	15007166	Standard	NM_138420	NM_138420	NA	Approved		uc010axc.1	Q8IVF2		ENST00000557457.1:c.220-1004C>T	14.37:g.105408319G>A		NA	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	37		.	.	.	.	.	.	.	.	.	.	A	4.162	0.028622	0.08054	.	.	ENSG00000185567	ENST00000333244	T	0.00958	5.5	3.6	1.02	0.19986	.	0.505334	0.13604	N	0.375608	T	0.00440	0.0014	N	0.04275	-0.24	0.09310	N	1	P	0.40931	0.733	B	0.31390	0.129	T	0.49826	-0.8898	10	0.35671	T	0.21	-2.8578	3.0753	0.06245	0.3547:0.0:0.381:0.2643	.	4490	Q8IVF2	AHNK2_HUMAN	V	4490	ENSP00000353114:A4490V	ENSP00000353114:A4490V	A	-	2	0	AHNAK2	104479364	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.630000	0.05502	-0.141000	0.11374	-1.028000	0.02416	GCG	AHNAK2-003	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000410299.1		-	ENST00000557457.1	Intron	SNP	14 : 105408319 - 105408319 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	855	198
SBF1	6305	broad.mit.edu	37	22	50904432	50904432	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50904432C>T	ENST00000380817.3	-	9	1152	c.969G>A	c.(967-969)ttG>ttA	p.L323L	SBF1_ENST00000390679.3_Silent_p.L323L|SBF1_ENST00000348911.6_Silent_p.L324L	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	NA					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GTGGCTCTGGCAAGGGTGGAA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	125	123			NA	NA	22		NA											NA				50904432		2165	4277	6442	SO:0001819	synonymous_variant			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241	6305	6305		Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins, DENN/MADD domain containing, Pleckstrin homology (PH) domain containing	10542	protein-coding gene	gene with protein product	myotubularin related 5, DENN/MADD domain containing 7A	603560			NA	9537414, 9736772	Standard		NM_002972	NA	Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000380817.3:c.969G>A	22.37:g.50904432C>T		NA	A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	37	CCDS14091.2																																																																																			SBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316819.2		-	ENST00000380817.3	Silent	SNP	22 : 50904432 - 50904432 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	661	104
ELMO2	63916	broad.mit.edu	37	20	45022235	45022235	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45022235G>A	ENST00000290246.6	-	5	319	c.125C>T	c.(124-126)tCg>tTg	p.S42L	ELMO2_ENST00000439931.2_Missense_Mutation_p.S42L|ELMO2_ENST00000396391.1_Missense_Mutation_p.S42L|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000352077.2_Missense_Mutation_p.S42L|ELMO2_ENST00000445496.2_5'UTR|ELMO2_ENST00000372176.1_5'UTR	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	42					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				GTTTGGCAACGACCACCTATG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	155	158			NA	NA	20		NA											NA				45022235		2203	4300	6503	SO:0001583	missense			AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598	63916	63916		Engulfment and cell motility proteins	17233	protein-coding gene	gene with protein product		606421	engulfment and cell motility 2 (ced-12 homolog, C. elegans)		NA	11595183	Standard	NM_022086	NM_133171	NA	Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.125C>T	20.37:g.45022235G>A	ENSP00000290246:p.Ser42Leu	NA	E1P5T3|Q5JVZ6|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	37	CCDS13398.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154087	0.57259	.	.	ENSG00000062598	ENST00000290246;ENST00000396391;ENST00000439931;ENST00000352077;ENST00000450812	T;T;T;T;T	0.24908	2.43;2.43;2.43;2.43;1.83	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.27900	0.0687	M	0.71581	2.175	0.80722	D	1	P;P	0.42757	0.667;0.789	B;B	0.32928	0.107;0.155	T	0.36553	-0.9743	10	0.72032	D	0.01	-9.6865	16.5031	0.84262	0.0:0.0:1.0:0.0	.	42;42	B4DRL5;Q96JJ3	.;ELMO2_HUMAN	L	42	ENSP00000290246:S42L;ENSP00000379673:S42L;ENSP00000396519:S42L;ENSP00000326172:S42L;ENSP00000416181:S42L	ENSP00000290246:S42L	S	-	2	0	ELMO2	44455642	1.000000	0.71417	0.950000	0.38849	0.916000	0.54674	5.952000	0.70282	2.375000	0.81037	0.491000	0.48974	TCG	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080466.1		-	ENST00000290246.6	Missense_Mutation	SNP	20 : 45022235 - 45022235 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	959	169
DERL3	91319	broad.mit.edu	37	22	24177042	24177042	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24177042G>A	ENST00000406855.3	-	7	710	c.692C>T	c.(691-693)aCg>aTg	p.T231M	DERL3_ENST00000404056.1_3'UTR|DERL3_ENST00000464023.1_5'UTR	NM_001002862.2|NM_001135751.1|NM_198440.3	NP_001002862.1|NP_001129223.1|NP_940842.2	Q96Q80	DERL3_HUMAN	derlin 3	0					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process	integral to endoplasmic reticulum membrane	protein binding			ovary(1)|prostate(1)|skin(1)	3						CTCTCCTGCCGTCCCTGGGCC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	50	49			NA	NA	22		NA											NA				24177042		1568	3582	5150	SO:0001583	missense			AB049213	CCDS33615.1, CCDS42986.1, CCDS46672.1	22q11.23	2012-02-01	2012-02-01	2004-11-02	ENSG00000099958	ENSG00000099958	91319	91319			14236	protein-coding gene	gene with protein product		610305	chromosome 22 open reading frame 14, Der1-like domain family, member 3	C22orf14	NA	15215855	Standard	NM_198440	NM_198440	NA	Approved	FLJ43842, MGC71803, derlin-3, IZP6	uc002zyk.4	Q96Q80	OTTHUMG00000150743	ENST00000406855.3:c.692C>T	22.37:g.24177042G>A	ENSP00000384744:p.Thr231Met	NA	Q6ICJ6|Q6PEX0|Q6ZUB5	37	CCDS46672.1	.	.	.	.	.	.	.	.	.	.	G	6.864	0.528669	0.13127	.	.	ENSG00000099958	ENST00000406855	T	0.23552	1.9	1.86	-1.97	0.07503	.	.	.	.	.	T	0.13670	0.0331	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.26677	-1.0096	8	0.33141	T	0.24	.	5.3542	0.16051	0.6403:0.0:0.3597:0.0	.	231	Q96Q80-2	.	M	231	ENSP00000384744:T231M	ENSP00000384744:T231M	T	-	2	0	DERL3	22507042	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-0.563000	0.05943	-0.446000	0.07149	0.196000	0.17591	ACG	DERL3-001	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319904.1		-	ENST00000406855.3	Missense_Mutation	SNP	22 : 24177042 - 24177042 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	47
NCKAP1L	3071	broad.mit.edu	37	12	54920455	54920455	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54920455G>A	ENST00000293373.6	+	21	2379	c.2300G>A	c.(2299-2301)cGc>cAc	p.R767H	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R717H	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	767					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	p.R767H(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AGAGTCATCCGCAACGCCCTC	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)	large_intestine(1)											123	102	109			NA	NA	12		NA											NA				54920455		2203	4300	6503	SO:0001583	missense			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338	3071	3071			4862	protein-coding gene	gene with protein product		141180	hematopoietic protein 1	HEM1	NA	1932118	Standard	NM_005337	NM_005337	NA	Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.2300G>A	12.37:g.54920455G>A	ENSP00000293373:p.Arg767His	NA	Q52LW0	37	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.992832	0.74703	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.35789	1.29;1.29	4.99	4.99	0.66335	.	0.122415	0.53938	D	0.000041	T	0.47655	0.1457	L	0.40543	1.245	0.37591	D	0.920173	D	0.71674	0.998	P	0.59825	0.864	T	0.53180	-0.8475	10	0.56958	D	0.05	-14.0375	16.1445	0.81555	0.0:0.0:1.0:0.0	.	767	P55160	NCKPL_HUMAN	H	767;717	ENSP00000293373:R767H;ENSP00000445596:R717H	ENSP00000293373:R767H	R	+	2	0	NCKAP1L	53206722	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.297000	0.51810	2.479000	0.83701	0.561000	0.74099	CGC	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406195.1		+	ENST00000293373.6	Missense_Mutation	SNP	12 : 54920455 - 54920455 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	42
SPEM1	374768	broad.mit.edu	37	17	7324541	7324541	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7324541C>T	ENST00000323675.3	+	3	572	c.547C>T	c.(547-549)Cct>Tct	p.P183S	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	183					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				CCGCTTCCAGCCTACCGTAGA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	46	45			NA	NA	17		NA											NA				7324541		1933	4120	6053	SO:0001583	missense			AK097400	CCDS42254.1	17p13.1	2011-12-12	2008-02-04	2008-02-04	ENSG00000181323	ENSG00000181323	374768	374768			32429	protein-coding gene	gene with protein product		615116	chromosome 17 open reading frame 83	C17orf83	NA	17426145, 20558241, 21184802	Standard	NM_199339	NM_199339	NA	Approved	FLJ40081	uc002ggv.3	Q8N4L4		ENST00000323675.3:c.547C>T	17.37:g.7324541C>T	ENSP00000315554:p.Pro183Ser	NA		37	CCDS42254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.428|6.428	0.447118|0.447118	0.12223|0.12223	.|.	.|.	ENSG00000181323|ENSG00000181323	ENST00000323383|ENST00000323675	.|.	.|.	.|.	5.77|5.77	-0.132|-0.132	0.13489|0.13489	.|.	.|1.207430	.|0.06081	.|N	.|0.661900	.|T	.|0.29389	.|0.0732	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|B	.|0.13594	.|0.008	.|B	.|0.12156	.|0.007	.|T	.|0.26643	.|-1.0097	.|9	.|0.42905	.|T	.|0.14	.|-0.5037	6.5152|6.5152	0.22244|0.22244	0.0:0.3983:0.4283:0.1734|0.0:0.3983:0.4283:0.1734	.|.	.|183	.|Q8N4L4	.|SPEM1_HUMAN	.|S	-1|183	.|.	.|ENSP00000315554:P183S	.|P	+|+	.|1	.|0	SPEM1|SPEM1	7265265|7265265	0.001000|0.001000	0.12720|0.12720	0.055000|0.055000	0.19348|0.19348	0.003000|0.003000	0.03518|0.03518	-0.510000|-0.510000	0.06328|0.06328	-0.208000|-0.208000	0.10171|0.10171	-0.150000|-0.150000	0.13652|0.13652	.|CCT	SPEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000440932.1		+	ENST00000323675.3	Missense_Mutation	SNP	17 : 7324541 - 7324541 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	275	37
MICAL3	57553	broad.mit.edu	37	22	18385498	18385498	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18385498T>C	ENST00000441493.2	-	4	840	c.488A>G	c.(487-489)cAa>cGa	p.Q163R	MICAL3_ENST00000444520.1_Missense_Mutation_p.Q163R|MICAL3_ENST00000585038.1_Missense_Mutation_p.Q163R|MICAL3_ENST00000400561.2_Missense_Mutation_p.Q163R|MICAL3_ENST00000207726.7_Missense_Mutation_p.Q163R|MICAL3_ENST00000414725.2_Missense_Mutation_p.Q163R|MICAL3_ENST00000383094.3_Missense_Mutation_p.Q163R|MICAL3_ENST00000429452.1_Missense_Mutation_p.Q163R	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	163						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AAGTATTAGTTGGAGCTGACG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	91	95			NA	NA	22		NA											NA				18385498		1568	3581	5149	SO:0001583	missense			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156	57553	57553			24694	protein-coding gene	gene with protein product		608882			NA	12110185	Standard		NM_015241	NA	Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.488A>G	22.37:g.18385498T>C	ENSP00000416015:p.Gln163Arg	NA	E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	37	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.633749	0.87660	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T;T	0.08458	3.09;3.09;3.09;3.09;3.09;3.09;3.09	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.40791	0.1131	M	0.93197	3.39	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;0.996;1.0;1.0;0.996	D;D;D;D;D	0.97110	0.999;0.985;1.0;1.0;0.985	T	0.54715	-0.8252	10	0.87932	D	0	.	16.2169	0.82237	0.0:0.0:0.0:1.0	.	163;163;163;163;163	B4DJ91;B2RXJ5;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;.;MICA3_HUMAN	R	163	ENSP00000416015:Q163R;ENSP00000414846:Q163R;ENSP00000383406:Q163R;ENSP00000410315:Q163R;ENSP00000391827:Q163R;ENSP00000372574:Q163R;ENSP00000207726:Q163R	ENSP00000207726:Q163R	Q	-	2	0	XXbac-B461K10.4;MICAL3	16765498	1.000000	0.71417	0.937000	0.37676	0.841000	0.47740	8.036000	0.88901	2.223000	0.72356	0.533000	0.62120	CAA	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447351.1		-	ENST00000441493.2	Missense_Mutation	SNP	22 : 18385498 - 18385498 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	58	9
TSSK2	23617	broad.mit.edu	37	22	19119459	19119459	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19119459G>A	ENST00000399635.2	+	1	1139	c.547G>A	c.(547-549)Gcc>Acc	p.A183T	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	183	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					AGCATATGCAGCCCCCGAGGT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	92	92			NA	NA	22		NA											NA				19119459		2203	4300	6503	SO:0001583	missense			AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203	23617	23617			11401	protein-coding gene	gene with protein product		610710	serine/threonine kinase 22B (spermiogenesis associated)	STK22B	NA	10591208	Standard		NM_053006	NA	Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.547G>A	22.37:g.19119459G>A	ENSP00000382544:p.Ala183Thr	NA	Q8IY55	37	CCDS13755.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120288	0.77323	.	.	ENSG00000206203	ENST00000399635	D	0.92099	-2.97	5.34	5.34	0.76211	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49916	D	0.000140	D	0.97567	0.9203	H	0.96662	3.86	0.44309	D	0.997186	D	0.76494	0.999	D	0.78314	0.991	D	0.98911	1.0780	10	0.87932	D	0	.	17.823	0.88656	0.0:0.0:1.0:0.0	.	183	Q96PF2	TSSK2_HUMAN	T	183	ENSP00000382544:A183T	ENSP00000382544:A183T	A	+	1	0	TSSK2	17499459	1.000000	0.71417	0.978000	0.43139	0.764000	0.43329	5.266000	0.65525	2.487000	0.83934	0.655000	0.94253	GCC	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316431.1		+	ENST00000399635.2	Missense_Mutation	SNP	22 : 19119459 - 19119459 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	803	140
CFLAR	8837	broad.mit.edu	37	2	202005146	202005146	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202005146C>A	ENST00000342795.5	+	5	970	c.590C>A	c.(589-591)cCt>cAt	p.P197H	CFLAR_ENST00000479953.2_Missense_Mutation_p.P101H|CFLAR_ENST00000443227.1_Missense_Mutation_p.P101H|CFLAR_ENST00000355558.4_Missense_Mutation_p.P197H|CFLAR_ENST00000341222.6_Missense_Mutation_p.P197H|CFLAR_ENST00000440180.1_Missense_Mutation_p.P197H|CFLAR_ENST00000309955.3_Missense_Mutation_p.P197H|CFLAR_ENST00000341582.6_Missense_Mutation_p.P197H|CFLAR_ENST00000457277.1_Missense_Mutation_p.P197H|CFLAR_ENST00000423241.2_Missense_Mutation_p.P197H|CFLAR_ENST00000494258.1_Missense_Mutation_p.P101H|CFLAR_ENST00000340870.5_Missense_Mutation_p.P197H|CFLAR-AS1_ENST00000415011.2_RNA|CFLAR-AS1_ENST00000474886.2_RNA			O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	197	Interaction with FADD.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 propeptide.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						CTCAAGGATCCTTCAAATAAC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(16;548 657 22190 32864 42338)							NA				0													112	112	112			NA	NA	2		NA											NA				202005146		2203	4300	6503	SO:0001583	missense			AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402	8837	8837		Endogenous ligands	1876	protein-coding gene	gene with protein product		603599		CASP8AP1	NA	9208847, 9217161	Standard	NM_003879	NM_003879	NA	Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000342795.5:c.590C>A	2.37:g.202005146C>A	ENSP00000342809:p.Pro197His	NA	B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	37		.	.	.	.	.	.	.	.	.	.	C	3.574	-0.086986	0.07097	.	.	ENSG00000003402	ENST00000309955;ENST00000443227;ENST00000341222;ENST00000355558;ENST00000340870;ENST00000343375;ENST00000341582;ENST00000342795;ENST00000423241;ENST00000440180;ENST00000457277	T;T;T;T;T;T;T;T;T;T	0.48522	3.71;3.71;0.81;0.81;3.58;3.93;0.87;3.71;0.81;3.58	4.69	1.81	0.25067	.	0.885835	0.10210	N	0.702195	T	0.36690	0.0976	L	0.43152	1.355	0.09310	N	1	B;B;B;B;B;B;B	0.30973	0.095;0.021;0.241;0.127;0.155;0.302;0.127	B;B;B;B;B;B;B	0.32624	0.032;0.016;0.103;0.075;0.048;0.149;0.075	T	0.30357	-0.9981	10	0.38643	T	0.18	0.0436	4.1779	0.10360	0.1818:0.6268:0.0:0.1914	.	101;197;197;197;197;197;197	O15519-3;C9JK38;O15519-11;O15519-8;O15519;O15519-12;O15519-2	.;.;.;.;CFLAR_HUMAN;.;.	H	197;101;197;197;197;101;197;197;197;197;197	ENSP00000312455:P197H;ENSP00000413270:P101H;ENSP00000339335:P197H;ENSP00000347757:P197H;ENSP00000339326:P197H;ENSP00000345807:P197H;ENSP00000342809:P197H;ENSP00000399420:P197H;ENSP00000406775:P197H;ENSP00000411535:P197H	ENSP00000312455:P197H	P	+	2	0	CFLAR	201713391	0.010000	0.17322	0.015000	0.15790	0.043000	0.13939	0.479000	0.22228	0.405000	0.25532	0.650000	0.86243	CCT	CFLAR-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000336701.1		+	ENST00000342795.5	Missense_Mutation	SNP	2 : 202005146 - 202005146 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	514	130
DLG2	1740	broad.mit.edu	37	11	84634141	84634141	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:84634141C>T	ENST00000398309.2	-	1	492	c.22G>A	c.(22-24)Gca>Aca	p.A8T	DLG2_ENST00000532653.1_Missense_Mutation_p.A8T|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000524982.1_Missense_Mutation_p.A8T	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	8						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GTCCGGAGTGCACAGTAACAT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	71	70			NA	NA	11		NA											NA				84634141		2081	4219	6300	SO:0001583	missense			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672	1740	1740		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	2901	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 58	603583	discs, large homolog 2, chapsyn-110 (Drosophila)		NA	8755482, 9806853	Standard	NM_001364	NM_001142702	NA	Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000398309.2:c.22G>A	11.37:g.84634141C>T	ENSP00000381355:p.Ala8Thr	NA	B7WNY8|Q59G57|Q68CQ8|Q6ZTA8	37	CCDS41696.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.308491	0.40895	.	.	ENSG00000150672	ENST00000398309;ENST00000524982;ENST00000532653	T;T;T	0.12984	2.68;2.68;2.63	5.95	5.95	0.96441	.	.	.	.	.	T	0.20129	0.0484	N	0.14661	0.345	0.80722	D	1	P;B;B	0.49447	0.924;0.032;0.019	P;B;B	0.57776	0.827;0.017;0.028	T	0.05419	-1.0886	8	.	.	.	.	20.3812	0.98933	0.0:1.0:0.0:0.0	.	8;8;8	B7Z2T4;E9PN83;Q15700	.;.;DLG2_HUMAN	T	8	ENSP00000381355:A8T;ENSP00000432894:A8T;ENSP00000435849:A8T	.	A	-	1	0	DLG2	84311789	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.359000	0.66074	2.821000	0.97095	0.650000	0.86243	GCA	DLG2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000259243.3		-	ENST00000398309.2	Missense_Mutation	SNP	11 : 84634141 - 84634141 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	47
KMT2D	8085	broad.mit.edu	37	12	49420873	49420873	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49420873G>A	ENST00000301067.7	-	48	14875	c.14876C>T	c.(14875-14877)gCc>gTc	p.A4959V		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D	NA											NA						CTTGGGTCGGGCTGATTCAGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	60	57			NA	NA	12		NA											NA				49420873		1928	4139	6067	SO:0001583	missense			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.14876C>T	12.37:g.49420873G>A	ENSP00000301067:p.Ala4959Val	NA		37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030638	0.35797	.	.	ENSG00000167548	ENST00000301067	T	0.78816	-1.21	4.09	4.09	0.47781	.	0.747332	0.11023	N	0.608118	T	0.58722	0.2142	N	0.02315	-0.6	0.36216	D	0.851678	B	0.20052	0.041	B	0.14023	0.01	T	0.61347	-0.7081	10	0.87932	D	0	.	15.6199	0.76799	0.0:0.0:1.0:0.0	.	4959	O14686	MLL2_HUMAN	V	4959	ENSP00000301067:A4959V	ENSP00000301067:A4959V	A	-	2	0	MLL2	47707140	1.000000	0.71417	0.928000	0.36995	0.966000	0.64601	6.688000	0.74557	2.288000	0.76882	0.557000	0.71058	GCC	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390183.2		-	ENST00000301067.7	Missense_Mutation	SNP	12 : 49420873 - 49420873 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	652	98
DSG2	1829	broad.mit.edu	37	18	29118725	29118725	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29118725C>T	ENST00000261590.8	+	12	1872	c.1663C>T	c.(1663-1665)Ctg>Ttg	p.L555L		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	555					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TACCAGTGTGCTGCTGCAACA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	90	92			NA	NA	18		NA											NA				29118725		1897	4120	6017	SO:0001819	synonymous_variant			Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604	1829	1829		Cadherins / Major cadherins	3049	protein-coding gene	gene with protein product		125671			NA	1612610	Standard	NM_001943	NM_001943	NA	Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.1663C>T	18.37:g.29118725C>T		NA	Q4KKU6	37	CCDS42423.1																																																																																			DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447506.1		+	ENST00000261590.8	Silent	SNP	18 : 29118725 - 29118725 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	57
YWHAE	7531	broad.mit.edu	37	17	1264567	1264567	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1264567C>T	ENST00000264335.8	-	4	664	c.397G>A	c.(397-399)Gca>Aca	p.A133T	YWHAE_ENST00000571732.1_Missense_Mutation_p.A111T|YWHAE_ENST00000575977.1_Intron|YWHAE_ENST00000573026.1_Intron	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon	133					apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		GCAAATTCTGCCAGATACCTG	0.373		NA	T	FAM22a, FAM22B	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome							NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		17	17p13.3	7531	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)	yes	M	0													91	87	88			NA	NA	17		NA											NA				1264567		2203	4300	6503	SO:0001583	missense			U54778	CCDS11001.1	17p13.3	2013-12-03	2013-12-03		ENSG00000108953	ENSG00000108953	7531	7531			12851	protein-coding gene	gene with protein product	14-3-3 epsilon	605066	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide		NA	9371399	Standard	NM_006761	NM_006761	NA	Approved	FLJ45465	uc002fsj.3	P62258	OTTHUMG00000134316	ENST00000264335.8:c.397G>A	17.37:g.1264567C>T	ENSP00000264335:p.Ala133Thr	NA	B3KY71|D3DTH5|P29360|P42655|Q4VJB6|Q53XZ5|Q63631|Q7M4R4	37	CCDS11001.1	.	.	.	.	.	.	.	.	.	.	C	33	5.265945	0.95399	.	.	ENSG00000108953	ENST00000264335;ENST00000414131	T	0.52983	0.64	5.25	5.25	0.73442	14-3-3 domain (4);	0.000000	0.85682	U	0.000000	T	0.76478	0.3993	M	0.93808	3.46	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.83363	0.0003	10	0.87932	D	0	-3.0444	16.4303	0.83840	0.0:1.0:0.0:0.0	.	133	P62258	1433E_HUMAN	T	133;111	ENSP00000264335:A133T	ENSP00000264335:A133T	A	-	1	0	YWHAE	1211317	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.771000	0.85420	2.454000	0.82982	0.650000	0.86243	GCA	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000259354.3		-	ENST00000264335.8	Missense_Mutation	SNP	17 : 1264567 - 1264567 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	599	106
FGA	2243	broad.mit.edu	37	4	155505940	155505940	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155505940C>T	ENST00000302053.3	-	6	2015	c.1937G>A	c.(1936-1938)gGc>gAc	p.G646D		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	646	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ATTGAAAATGCCACTTTGGGT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(143;340 1922 20892 22370 48145)							NA				0													46	47	47			NA	NA	4		NA											NA				155505940		2203	4300	6503	SO:0001583	missense				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560	2243	2243		Fibrinogen C domain containing, Endogenous ligands	3661	protein-coding gene	gene with protein product		134820	fibrinogen, A alpha polypeptide		NA		Standard	NM_000508	NM_000508	NA	Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1937G>A	4.37:g.155505940C>T	ENSP00000306361:p.Gly646Asp	NA	D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	37	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770217	0.69992	.	.	ENSG00000171560	ENST00000302053	D	0.98987	-5.3	5.46	4.63	0.57726	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.044035	0.85682	D	0.000000	D	0.98972	0.9650	M	0.82433	2.59	0.80722	D	1	P	0.46277	0.875	P	0.53988	0.739	D	0.98824	1.0748	10	0.62326	D	0.03	.	14.4471	0.67359	0.0:0.9288:0.0:0.0712	.	646	P02671	FIBA_HUMAN	D	646	ENSP00000306361:G646D	ENSP00000306361:G646D	G	-	2	0	FGA	155725390	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.530000	0.60595	1.304000	0.44892	-0.143000	0.13931	GGC	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317593.1		-	ENST00000302053.3	Missense_Mutation	SNP	4 : 155505940 - 155505940 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	443	55
TLN1	7094	broad.mit.edu	37	9	35708471	35708471	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35708471A>G	ENST00000314888.9	-	34	4690	c.4337T>C	c.(4336-4338)cTg>cCg	p.L1446P	TLN1_ENST00000540444.1_Missense_Mutation_p.L1446P	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1446	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GACACCAACCAGATATGCAGC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	58	58			NA	NA	9		NA											NA				35708471		2203	4300	6503	SO:0001583	missense			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076	7094	7094			11845	protein-coding gene	gene with protein product		186745		TLN	NA	7635475, 10610730	Standard	NM_006289	NM_006289	NA	Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.4337T>C	9.37:g.35708471A>G	ENSP00000316029:p.Leu1446Pro	NA	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	37	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.284188	0.80803	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.30981	1.51;1.51	5.06	5.06	0.68205	.	0.083774	0.50627	D	0.000107	T	0.61085	0.2319	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69423	-0.5149	10	0.87932	D	0	-9.0589	14.8386	0.70206	1.0:0.0:0.0:0.0	.	1446	Q9Y490	TLN1_HUMAN	P	1446	ENSP00000316029:L1446P;ENSP00000442981:L1446P	ENSP00000316029:L1446P	L	-	2	0	TLN1	35698471	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.335000	0.96500	1.899000	0.54978	0.459000	0.35465	CTG	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052353.2		-	ENST00000314888.9	Missense_Mutation	SNP	9 : 35708471 - 35708471 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	388	58
NDNF	79625	broad.mit.edu	37	4	121958586	121958586	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:121958586T>G	ENST00000379692.4	-	4	1066	c.540A>C	c.(538-540)ccA>ccC	p.P180P	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	180										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						CATCTACTCTTGGGTCATAGG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													198	199	198			NA	NA	4		NA											NA				121958586		2065	4221	6286	SO:0001819	synonymous_variant			BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376	79625	79625			26256	protein-coding gene	gene with protein product			chromosome 4 open reading frame 31	C4orf31	NA	12975309, 20969804	Standard	NM_024574	NM_024574	NA	Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.540A>C	4.37:g.121958586T>G		NA	Q6UWE5|Q9H5P7	37	CCDS3717.2																																																																																			NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256532.2		-	ENST00000379692.4	Silent	SNP	4 : 121958586 - 121958586 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	679	175
MAST3	23031	broad.mit.edu	37	19	18249857	18249857	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18249857G>A	ENST00000262811.6	+	19	2041	c.2041G>A	c.(2041-2043)Gag>Aag	p.E681K		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	NA	AGC-kinase C-terminal.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TCTGGGCTCCGAGGACGACGA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	57	55			NA	NA	19		NA											NA				18249857		2092	4230	6322	SO:0001583	missense			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308	23031	23031			19036	protein-coding gene	gene with protein product		612258			NA		Standard	XM_038150	NM_015016	NA	Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2041G>A	19.37:g.18249857G>A	ENSP00000262811:p.Glu681Lys	NA	Q7LDZ8|Q9UPI0	37	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883681	0.72410	.	.	ENSG00000099308	ENST00000262811	T	0.24350	1.86	3.95	3.95	0.45737	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.061031	0.64402	D	0.000005	T	0.45155	0.1328	M	0.83012	2.62	0.80722	D	1	D	0.53151	0.958	P	0.53760	0.734	T	0.51371	-0.8714	10	0.38643	T	0.18	-26.804	14.9224	0.70851	0.0:0.0:1.0:0.0	.	681	O60307	MAST3_HUMAN	K	681	ENSP00000262811:E681K	ENSP00000262811:E681K	E	+	1	0	MAST3	18110857	1.000000	0.71417	0.776000	0.31678	0.139000	0.21198	7.882000	0.87258	1.941000	0.56285	0.313000	0.20887	GAG	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466526.2		+	ENST00000262811.6	Missense_Mutation	SNP	19 : 18249857 - 18249857 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	49	6
GRHL2	79977	broad.mit.edu	37	8	102589658	102589658	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:102589658G>A	ENST00000251808.3	+	7	1252	c.914G>A	c.(913-915)aGt>aAt	p.S305N	GRHL2_ENST00000395927.1_Missense_Mutation_p.S289N	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	305						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GTGGTCTTCAGTGAAGACAAA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	106	112			NA	NA	8		NA											NA				102589658		2203	4300	6503	SO:0001583	missense			AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307	79977	79977			2799	protein-coding gene	gene with protein product		608576	deafness, autosomal dominant 28, transcription factor CP2-like 3	DFNA28, TFCP2L3	NA	12393799	Standard	NM_024915	NM_024915	NA	Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.914G>A	8.37:g.102589658G>A	ENSP00000251808:p.Ser305Asn	NA	A1L303|Q6NT03|Q9H8B8	37	CCDS34931.1	.	.	.	.	.	.	.	.	.	.	G	32	5.185364	0.94885	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.17370	2.28;2.28	5.35	5.35	0.76521	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.26231	0.0640	L	0.40543	1.245	0.80722	D	1	P	0.35139	0.486	P	0.45538	0.484	T	0.01401	-1.1364	10	0.45353	T	0.12	-17.3025	19.4438	0.94838	0.0:0.0:1.0:0.0	.	305	Q6ISB3	GRHL2_HUMAN	N	305;289;305	ENSP00000251808:S305N;ENSP00000379260:S289N	ENSP00000251808:S305N	S	+	2	0	GRHL2	102658834	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.954000	0.87848	2.655000	0.90218	0.655000	0.94253	AGT	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313882.1		+	ENST00000251808.3	Missense_Mutation	SNP	8 : 102589658 - 102589658 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	201	34
PLAU	5328	broad.mit.edu	37	10	75673487	75673487	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75673487C>T	ENST00000372764.3	+	7	744	c.651C>T	c.(649-651)tgC>tgT	p.C217C	C10orf55_ENST00000409178.1_Intron|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372762.4_Silent_p.C181C|PLAU_ENST00000446342.1_Silent_p.C200C	NM_002658.3	NP_002649	P00749	UROK_HUMAN	plasminogen activator, urokinase	217	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	TCAGCCCTTGCTGGGTGATCA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	42	41			NA	NA	10		NA											NA				75673487		2203	4299	6502	SO:0001819	synonymous_variant			BC013575	CCDS7339.1, CCDS44442.1	10q24	2012-10-02			ENSG00000122861	ENSG00000122861	5328	5328	3.4.21.68		9052	protein-coding gene	gene with protein product		191840			NA	2415429	Standard	NM_002658	NM_002658	NA	Approved	URK, UPA	uc001jwa.3	P00749	OTTHUMG00000018494	ENST00000372764.3:c.651C>T	10.37:g.75673487C>T		NA	B4DPZ2|Q15844|Q16618|Q53XS3|Q5SWW9|Q969W6	37	CCDS7339.1																																																																																			PLAU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048727.1		+	ENST00000372764.3	Silent	SNP	10 : 75673487 - 75673487 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	492	92
TMEM87A	25963	broad.mit.edu	37	15	42521011	42521011	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42521011A>C	ENST00000389834.4	-	13	1403	c.1139T>G	c.(1138-1140)aTt>aGt	p.I380S	TMEM87A_ENST00000448392.1_Missense_Mutation_p.I319S	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	380						integral to membrane				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		AGTCAGGCTAATAAATATGTG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	93	94			NA	NA	15		NA											NA				42521011		2203	4299	6502	SO:0001583	missense			AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978	25963	25963			24522	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_015497	XM_005254287	NA	Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.1139T>G	15.37:g.42521011A>C	ENSP00000374484:p.Ile380Ser	NA	Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	37	CCDS32205.1	.	.	.	.	.	.	.	.	.	.	A	18.25	3.583501	0.65992	.	.	ENSG00000103978	ENST00000389834;ENST00000448392;ENST00000535305	.	.	.	5.4	5.4	0.78164	.	0.546137	0.15099	U	0.280612	T	0.43634	0.1256	N	0.19112	0.55	0.80722	D	1	P	0.42203	0.773	P	0.44623	0.455	T	0.18555	-1.0333	9	0.14252	T	0.57	-2.8816	15.5958	0.76578	1.0:0.0:0.0:0.0	.	380	Q8NBN3	TM87A_HUMAN	S	380;319;356	.	ENSP00000374484:I380S	I	-	2	0	TMEM87A	40308303	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.117000	0.94347	2.277000	0.76020	0.528000	0.53228	ATT	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000420482.2		-	ENST00000389834.4	Missense_Mutation	SNP	15 : 42521011 - 42521011 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	367	66
LZTS1	11178	broad.mit.edu	37	8	20110763	20110763	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:20110763G>A	ENST00000381569.1	-	3	1036	c.679C>T	c.(679-681)Ctg>Ttg	p.L227L	LZTS1_ENST00000265801.6_Silent_p.L227L|LZTS1_ENST00000522290.1_Silent_p.L227L			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	227					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		AGAGCCTTCAGGCTCATCATG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	61	64			NA	NA	8		NA											NA				20110763		2203	4300	6503	SO:0001819	synonymous_variant			AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337	11178	11178			13861	protein-coding gene	gene with protein product		606551	F37/Esophageal cancer-related gene-coding leucine-zipper motif		NA	10097140, 17349584	Standard	NM_021020	NM_021020	NA	Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.679C>T	8.37:g.20110763G>A		NA	D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	37	CCDS6015.1																																																																																			LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214122.1		-	ENST00000381569.1	Silent	SNP	8 : 20110763 - 20110763 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	479	100
RBM22	55696	broad.mit.edu	37	5	150078092	150078092	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150078092G>A	ENST00000199814.4	-	4	361	c.240C>T	c.(238-240)gtC>gtT	p.V80V	RBM22_ENST00000540000.1_Intron|RBM22_ENST00000447771.2_Intron	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	80					protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGTCTGACAGACATTCTTCA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	111	116			NA	NA	5		NA											NA				150078092		2203	4300	6503	SO:0001819	synonymous_variant			AL136933	CCDS34278.1	5q33.1	2013-02-12			ENSG00000086589	ENSG00000086589	55696	55696		Zinc fingers, CCCH-type domain containing, RNA binding motif (RRM) containing	25503	protein-coding gene	gene with protein product	functional spliceosome-associated protein 47	612430			NA	20013661, 19133299	Standard	NM_018047	NM_018047	NA	Approved	FLJ10290, ZC3H16, fSAP47, Cwc2	uc031slu.1	Q9NW64	OTTHUMG00000163589	ENST00000199814.4:c.240C>T	5.37:g.150078092G>A		NA	A6NDM5|B4DLI9|O95607	37	CCDS34278.1																																																																																			RBM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374431.2		-	ENST00000199814.4	Silent	SNP	5 : 150078092 - 150078092 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	571	24
TCF3	6929	broad.mit.edu	37	19	1615357	1615357	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1615357C>A	ENST00000262965.5	-	18	2093	c.1749G>T	c.(1747-1749)gaG>gaT	p.E583D	TCF3_ENST00000588136.1_Intron|TCF3_ENST00000395423.3_Missense_Mutation_p.E587D|TCF3_ENST00000453954.2_Intron|TCF3_ENST00000344749.5_Intron	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN	transcription factor 3	583	Helix-loop-helix motif.				B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		TCTGGGGCTTCTCGCTGTTGA	0.642		NA	T	PBX1, HLF, TFPT	pre B-ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	0													92	90	91			NA	NA	19		NA											NA				1615357		2203	4300	6503	SO:0001583	missense			M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564	6929	6929		Basic helix-loop-helix proteins	11633	protein-coding gene	gene with protein product	transcription factor E2-alpha, immunoglobulin transcription factor 1, kappa-E2-binding factor, E2A immunoglobulin enhancer-binding factor E12/E47, VDR interacting repressor	147141			NA	2308859, 1967983	Standard	NM_003200	NM_003200	NA	Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.1749G>T	19.37:g.1615357C>A	ENSP00000262965:p.Glu583Asp	NA	P15883|Q14208|Q14635|Q14636|Q2TB40|Q9UPI9	37	CCDS12074.1	.	.	.	.	.	.	.	.	.	.	C	3.049	-0.195757	0.06259	.	.	ENSG00000071564	ENST00000262965;ENST00000395423	D;D	0.97959	-4.63;-4.63	4.32	1.97	0.26223	Helix-loop-helix DNA-binding (5);	0.233607	0.43110	N	0.000618	D	0.90553	0.7039	N	0.02685	-0.53	0.80722	D	1	B;P;B	0.40376	0.0;0.715;0.002	B;P;B	0.46685	0.003;0.524;0.027	D	0.87914	0.2699	10	0.02654	T	1	-14.8527	5.9245	0.19101	0.0:0.6186:0.0:0.3814	.	583;587;520	P15923;Q2TB39;Q6PJU3	TFE2_HUMAN;.;.	D	583;587	ENSP00000262965:E583D;ENSP00000378813:E587D	ENSP00000262965:E583D	E	-	3	2	TCF3	1566357	0.949000	0.32298	0.999000	0.59377	0.994000	0.84299	-0.017000	0.12590	0.777000	0.33496	0.555000	0.69702	GAG	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449367.1		-	ENST00000262965.5	Missense_Mutation	SNP	19 : 1615357 - 1615357 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	572	23
MXRA5	25878	broad.mit.edu	37	X	3235453	3235453	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3235453C>T	ENST00000217939.6	-	6	6423	c.6269G>A	c.(6268-6270)cGc>cAc	p.R2090H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2090	Ig-like C2-type 5.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTGCGAGGGGCGGATCTGGGT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	30	31			NA	NA	X		NA											NA				3235453		2199	4294	6493	SO:0001583	missense			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825	25878	25878		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	7539	protein-coding gene	gene with protein product	adlican				NA	12101425	Standard	NM_015419	NM_015419	NA	Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6269G>A	X.37:g.3235453C>T	ENSP00000217939:p.Arg2090His	NA	Q6P1M7|Q9Y3Y8	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	10.34	1.322750	0.23994	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.68331	-0.32	3.63	2.74	0.32292	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36815	U	0.002392	T	0.65995	0.2745	L	0.28014	0.82	0.09310	N	1	D	0.64830	0.994	P	0.58928	0.848	T	0.60058	-0.7337	10	0.56958	D	0.05	.	11.8444	0.52376	0.1766:0.8234:0.0:0.0	.	2090	Q9NR99	MXRA5_HUMAN	H	2090	ENSP00000217939:R2090H	ENSP00000217939:R2090H	R	-	2	0	MXRA5	3245453	0.911000	0.30947	0.008000	0.14137	0.065000	0.16274	2.716000	0.47219	0.386000	0.24997	0.597000	0.82753	CGC	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055655.2		-	ENST00000217939.6	Missense_Mutation	SNP	X : 3235453 - 3235453 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	71	22
SLC29A4	222962	broad.mit.edu	37	7	5339001	5339001	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5339001C>T	ENST00000396872.3	+	9	1313	c.1152C>T	c.(1150-1152)ggC>ggT	p.G384G	SLC29A4_ENST00000297195.4_Silent_p.G384G|SLC29A4_ENST00000439491.2_3'UTR|SLC29A4_ENST00000406453.3_Silent_p.G370G			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	NA					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GCATCCTGGGCGAGTGGCTGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	42	48			NA	NA	7		NA											NA				5339001		2203	4300	6503	SO:0001819	synonymous_variant			AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638	222962	222962		Solute carriers	23097	protein-coding gene	gene with protein product		609149	solute carrier family 29 (nucleoside transporters), member 4		NA	12838422	Standard	NM_153247	NM_153247	NA	Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.1152C>T	7.37:g.5339001C>T		NA	Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	37	CCDS5340.1																																																																																			SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060118.6		+	ENST00000396872.3	Silent	SNP	7 : 5339001 - 5339001 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	255	22
SAMD9	54809	broad.mit.edu	37	7	92732941	92732941	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92732941G>A	ENST00000379958.2	-	3	2739	c.2470C>T	c.(2470-2472)Cga>Tga	p.R824*		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	824						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTCATATCGAATGTACTTT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	68	68			NA	NA	7		NA											NA				92732941		2203	4298	6501	SO:0001587	stop_gained			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413	54809	54809		Sterile alpha motif (SAM) domain containing	1348	protein-coding gene	gene with protein product		610456	chromosome 7 open reading frame 5	C7orf5	NA		Standard	NM_017654	NM_017654	NA	Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2470C>T	7.37:g.92732941G>A	ENSP00000369292:p.Arg824*	NA	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	37	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	G	37	6.494928	0.97612	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	.	.	.	4.44	2.51	0.30379	.	0.257740	0.23690	U	0.045527	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.7059	0.28650	0.0:0.161:0.5076:0.3314	.	.	.	.	X	824	.	ENSP00000369292:R824X	R	-	1	2	SAMD9	92570877	0.000000	0.05858	0.937000	0.37676	0.932000	0.56968	0.105000	0.15333	0.429000	0.26202	0.609000	0.83330	CGA	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341761.1		-	ENST00000379958.2	Nonsense_Mutation	SNP	7 : 92732941 - 92732941 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	16
CHAF1A	10036	broad.mit.edu	37	19	4432123	4432123	+	Missense_Mutation	SNP	G	G	A	rs45499793	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4432123G>A	ENST00000301280.5	+	12	2223	c.2122G>A	c.(2122-2124)Gca>Aca	p.A708T	CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	708	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGCAGTTCGCAGCCTGCTT	0.657		NA						Chromatin Structure					G	1	5e-04	NA	NA	2184	NA	0.9997	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.7622	EXOME	NA	NA	7e-04	SNP								NA				0								G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	52	46	48		2122	-9.7	0	19	dbSNP_127	48	4,8596	3.7+/-12.6	0,4,4296	yes	missense	CHAF1A	NM_005483.2	58	0,5,6498	AA,AG,GG	NA	0.0465,0.0227,0.0384	benign	708/957	4432123	5,13001	2203	4300	6503	SO:0001583	missense			U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670	10036	10036			1910	protein-coding gene	gene with protein product	chromatin assembly factor I (150 kDa)	601246			NA	7600578	Standard	NM_005483	NM_005483	NA	Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.2122G>A	19.37:g.4432123G>A	ENSP00000301280:p.Ala708Thr	NA	Q6NXG5|Q7Z7K3|Q9UJY8	37	CCDS32875.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	4.829	0.154086	0.09185	2.27E-4	4.65E-4	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.25250	1.81	4.84	-9.69	0.00524	.	.	.	.	.	T	0.05640	0.0148	N	0.04203	-0.255	0.09310	N	1	P	0.41008	0.735	B	0.20184	0.028	T	0.39663	-0.9603	9	0.87932	D	0	-1.689	2.3987	0.04396	0.2251:0.1073:0.4111:0.2565	rs45499793	708	Q13111	CAF1A_HUMAN	T	708	ENSP00000301280:A708T	ENSP00000301280:A708T	A	+	1	0	CHAF1A	4383123	0.000000	0.05858	0.000000	0.03702	0.448000	0.32197	-0.241000	0.08940	-2.159000	0.00787	-0.857000	0.03018	GCA	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458310.2		+	ENST00000301280.5	Missense_Mutation	SNP	19 : 4432123 - 4432123 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	333	31
DNAH2	146754	broad.mit.edu	37	17	7660422	7660422	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7660422C>T	ENST00000572933.1	+	13	3378	c.1918C>T	c.(1918-1920)Ctc>Ttc	p.L640F	DNAH2_ENST00000389173.2_Missense_Mutation_p.L640F			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	640	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTTCTGATTCTCTTTGCGGA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													195	191	192			NA	NA	17		NA											NA				7660422		2203	4300	6503	SO:0001583	missense			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914	146754	146754		Axonemal dyneins	2948	protein-coding gene	gene with protein product		603333	dynein, axonemal, heavy polypeptide 2, dynein heavy chain domain 3	DNHD3	NA	9256245	Standard	NM_020877	XM_005256470	NA	Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1918C>T	17.37:g.7660422C>T	ENSP00000458355:p.Leu640Phe	NA	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.716165	0.48622	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.65364	-0.15	4.96	4.96	0.65561	Dynein heavy chain, domain-1 (1);	0.163839	0.41097	D	0.000952	T	0.77103	0.4081	M	0.85710	2.77	0.80722	D	1	D	0.63046	0.992	D	0.73380	0.98	T	0.79327	-0.1849	10	0.72032	D	0.01	.	6.3087	0.21153	0.1845:0.7244:0.0:0.0911	.	640	Q9P225	DYH2_HUMAN	F	640	ENSP00000373825:L640F	ENSP00000353818:L640F	L	+	1	0	DNAH2	7601147	0.879000	0.30193	1.000000	0.80357	0.519000	0.34347	1.072000	0.30678	2.578000	0.87016	0.491000	0.48974	CTC	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000440241.1		+	ENST00000572933.1	Missense_Mutation	SNP	17 : 7660422 - 7660422 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1831	350
ZNF596	169270	broad.mit.edu	37	8	192901	192901	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:192901C>T	ENST00000398612.1	+	3	410	c.27C>T	c.(25-27)ttC>ttT	p.F9F	ZNF596_ENST00000308811.4_Silent_p.F9F|ZNF596_ENST00000320552.2_Silent_p.F9F	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	9	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		CCATGACCTTCGAGGATATCA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	121	127			NA	NA	8		NA											NA				192901		2203	4300	6503	SO:0001819	synonymous_variant			BC026190	CCDS5951.2	8p23.3	2013-01-08			ENSG00000172748	ENSG00000172748	169270	169270		Zinc fingers, C2H2-type, -	27268	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_173539	NM_001287256	NA	Approved		uc003wot.3	Q8TC21	OTTHUMG00000086931	ENST00000398612.1:c.27C>T	8.37:g.192901C>T		NA	B2R8P4|O95015|Q8N9X0	37	CCDS5951.2																																																																																			ZNF596-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195858.4		+	ENST00000398612.1	Silent	SNP	8 : 192901 - 192901 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	239	33
VILL	50853	broad.mit.edu	37	3	38048048	38048048	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38048048C>T	ENST00000283713.6	+	19	2580	c.2314C>T	c.(2314-2316)Cga>Tga	p.R772*	VILL_ENST00000383759.2_Nonsense_Mutation_p.R772*|VILL_ENST00000465644.1_Nonsense_Mutation_p.R490*			O15195	VILL_HUMAN	villin-like	772					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGATCTGGTGCGAAGCCCCAA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	41	39			NA	NA	3		NA											NA				38048048		2202	4298	6500	SO:0001587	stop_gained				CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059	50853	50853			30906	protein-coding gene	gene with protein product					NA	9179494	Standard	NM_015873	XM_005265191	NA	Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.2314C>T	3.37:g.38048048C>T	ENSP00000283713:p.Arg772*	NA	A8MZP1|Q9BT80|Q9BWH7	37	CCDS2670.2	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730392	0.69074	.	.	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	.	.	.	3.14	3.14	0.36123	.	4.268040	0.00846	N	0.001781	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	2.6977	10.0336	0.42116	0.0:1.0:0.0:0.0	.	.	.	.	X	772;772;758;490	.	ENSP00000283713:R772X	R	+	1	2	VILL	38023052	0.000000	0.05858	0.032000	0.17829	0.006000	0.05464	-0.079000	0.11357	2.090000	0.63153	0.462000	0.41574	CGA	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253360.3		+	ENST00000283713.6	Nonsense_Mutation	SNP	3 : 38048048 - 38048048 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	392	16
MIER2	54531	broad.mit.edu	37	19	308850	308850	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:308850C>T	ENST00000264819.4	-	11	1070	c.1060G>A	c.(1060-1062)Gcc>Acc	p.A354T		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		GTCTGCTGGGCGAAGTAGTCG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	54	55			NA	NA	19		NA											NA				308850		2203	4300	6503	SO:0001583	missense			AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556	54531	54531			29210	protein-coding gene	gene with protein product			KIAA1193	KIAA1193	NA	10574462	Standard	XM_041843	NM_017550	NA	Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.1060G>A	19.37:g.308850C>T	ENSP00000264819:p.Ala354Thr	NA	Q9ULM7	37	CCDS32855.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568703	0.45798	.	.	ENSG00000105556	ENST00000264819	T	0.29397	1.57	4.49	1.07	0.20283	.	0.498482	0.16667	N	0.204525	T	0.13670	0.0331	N	0.12637	0.245	0.22389	N	0.99915	B	0.18310	0.027	B	0.14578	0.011	T	0.17440	-1.0369	10	0.36615	T	0.2	-10.9915	3.6206	0.08094	0.2274:0.1757:0.0:0.5968	.	354	Q8N344	MIER2_HUMAN	T	354	ENSP00000264819:A354T	ENSP00000264819:A354T	A	-	1	0	MIER2	259850	1.000000	0.71417	0.987000	0.45799	0.960000	0.62799	3.052000	0.49893	-0.094000	0.12374	0.457000	0.33378	GCC	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451784.1		-	ENST00000264819.4	Missense_Mutation	SNP	19 : 308850 - 308850 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	433	46
FGA	2243	broad.mit.edu	37	4	155508756	155508756	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155508756C>T	ENST00000302053.3	-	4	496	c.418G>A	c.(418-420)Gtc>Atc	p.V140I	FGA_ENST00000403106.3_Missense_Mutation_p.V140I	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	140					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CGCTTCAGGACTTCAATTCTG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(143;340 1922 20892 22370 48145)							NA				0													194	177	183			NA	NA	4		NA											NA				155508756		2203	4300	6503	SO:0001583	missense				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560	2243	2243		Fibrinogen C domain containing, Endogenous ligands	3661	protein-coding gene	gene with protein product		134820	fibrinogen, A alpha polypeptide		NA		Standard	NM_000508	NM_000508	NA	Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.418G>A	4.37:g.155508756C>T	ENSP00000306361:p.Val140Ile	NA	D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	37	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	4.103	0.017251	0.07959	.	.	ENSG00000171560	ENST00000302053;ENST00000403106;ENST00000457487	D;D	0.84370	-1.84;-1.84	6.16	-0.556	0.11803	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (2);	1.369600	0.04234	N	0.335841	T	0.57902	0.2085	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.59284	-0.7483	10	0.05525	T	0.97	.	6.2462	0.20818	0.1133:0.3299:0.0:0.5568	.	140;140;140	A8K3E4;P02671-2;P02671	.;.;FIBA_HUMAN	I	140	ENSP00000306361:V140I;ENSP00000385981:V140I	ENSP00000306361:V140I	V	-	1	0	FGA	155728206	0.000000	0.05858	0.649000	0.29536	0.771000	0.43674	-0.481000	0.06552	-0.003000	0.14444	0.650000	0.86243	GTC	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317593.1		-	ENST00000302053.3	Missense_Mutation	SNP	4 : 155508756 - 155508756 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	540	102
ZNF585B	92285	broad.mit.edu	37	19	37677675	37677675	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37677675G>T	ENST00000532828.2	-	5	1015	c.764C>A	c.(763-765)tCc>tAc	p.S255Y	ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.S200Y|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_5'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTGAGTGTGGACTTTTGTGT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(93;882 1454 18863 28917 48427)							NA				0													183	180	181			NA	NA	19		NA											NA				37677675		2203	4300	6503	SO:0001583	missense			AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680	92285	92285		Zinc fingers, C2H2-type, -	30948	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152279	NM_152279	NA	Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.764C>A	19.37:g.37677675G>T	ENSP00000433773:p.Ser255Tyr	NA	Q8IZD3|Q96JW6	37	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	G	4.716	0.133052	0.09032	.	.	ENSG00000245680	ENST00000531805;ENST00000532828	T;T	0.18502	2.21;2.21	2.41	2.41	0.29592	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37136	N	0.002237	T	0.26702	0.0653	L	0.58302	1.8	0.09310	N	0.999998	P;D	0.65815	0.936;0.995	B;P	0.57911	0.374;0.829	T	0.02307	-1.1179	10	0.62326	D	0.03	.	6.5405	0.22377	0.151:0.0:0.849:0.0	.	200;255	E9PQH3;Q52M93	.;Z585B_HUMAN	Y	200;255	ENSP00000436774:S200Y;ENSP00000433773:S255Y	ENSP00000436774:S200Y	S	-	2	0	ZNF585B	42369515	0.000000	0.05858	0.997000	0.53966	0.008000	0.06430	0.126000	0.15769	1.338000	0.45544	0.455000	0.32223	TCC	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388272.2		-	ENST00000532828.2	Missense_Mutation	SNP	19 : 37677675 - 37677675 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	866	141
LENG8	114823	broad.mit.edu	37	19	54966209	54966209	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54966209C>T	ENST00000326764.5	+	7	1238	c.759C>T	c.(757-759)aaC>aaT	p.N253N	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	216							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		TTGGCTCCAACGCAGAGGGCC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	67	67			NA	NA	19		NA											NA				54966209		2203	4300	6503	SO:0001819	synonymous_variant			AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615	114823	114823			15500	protein-coding gene	gene with protein product					NA	10941842	Standard	NM_052925	XM_005278248	NA	Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.759C>T	19.37:g.54966209C>T		NA	B0VJY9|Q8IZ27|Q8NCX6	37	CCDS12894.1																																																																																			LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000140523.2		+	ENST00000326764.5	Silent	SNP	19 : 54966209 - 54966209 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	306	55
ZNF805	390980	broad.mit.edu	37	19	57765775	57765775	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57765775T>C	ENST00000354309.4	+	3	1668	c.1189T>C	c.(1189-1191)Tct>Cct	p.S397P	ZNF805_ENST00000414468.2_Missense_Mutation_p.S530P|ZNF805_ENST00000535550.1_Missense_Mutation_p.S397P	NM_001145078.1	NP_001138550.1	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						CATTCGACACTCTATCATCCA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	94	95			NA	NA	19		NA											NA				57765775		692	1591	2283	SO:0001583	missense			AF024708	CCDS46207.1, CCDS46208.1	19q13.43	2013-01-08			ENSG00000204524	ENSG00000204524	390980	390980		Zinc fingers, C2H2-type, -	23272	protein-coding gene	gene with protein product					NA		Standard	NM_001023563	NM_001023563	NA	Approved		uc010ygt.2	Q5CZA5		ENST00000354309.4:c.1189T>C	19.37:g.57765775T>C	ENSP00000365414:p.Ser397Pro	NA	B4DNM5	37	CCDS46208.1	.	.	.	.	.	.	.	.	.	.	T	14.54	2.564893	0.45694	.	.	ENSG00000204524	ENST00000535550;ENST00000414468;ENST00000354309	T;T;T	0.07800	3.16;3.16;3.16	4.03	1.78	0.24846	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	3.312830	0.00725	N	0.000916	T	0.11196	0.0273	L	0.34521	1.04	0.09310	N	1	P	0.45428	0.858	P	0.49387	0.609	T	0.16453	-1.0402	10	0.87932	D	0	.	0.4059	0.00433	0.1837:0.1876:0.2725:0.3562	.	530	Q5CZA5	ZN805_HUMAN	P	397;530;397	ENSP00000440067:S397P;ENSP00000412999:S530P;ENSP00000365414:S397P	ENSP00000365414:S397P	S	+	1	0	ZNF805	62457587	0.000000	0.05858	0.931000	0.37212	0.989000	0.77384	-0.330000	0.07925	0.649000	0.30751	0.460000	0.39030	TCT	ZNF805-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465721.1		+	ENST00000354309.4	Missense_Mutation	SNP	19 : 57765775 - 57765775 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	74
PCDHGC3	5098	broad.mit.edu	37	5	140856674	140856674	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140856674C>T	ENST00000308177.3	+	1	1095	c.991C>T	c.(991-993)Ccc>Tcc	p.P331S	PCDHGA12_ENST00000252085.3_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1			protocadherin gamma subfamily C, 3	NA										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGCCAATCCCGAAGGAGC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	73	76			NA	NA	5		NA											NA				140856674		2203	4300	6503	SO:0001583	missense			AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184	5098	5098		Cadherins / Protocadherins : Clustered	8716	other	protocadherin	cadherin-like 2, protocadherin 2, protocadherin 43	603627		PCDH2	NA	9360932, 8508762	Standard	NM_002588	NM_032402	NA	Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.991C>T	5.37:g.140856674C>T	ENSP00000312070:p.Pro331Ser	NA		37	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	C	7.092	0.572384	0.13623	.	.	ENSG00000240184	ENST00000308177	T	0.55413	0.52	5.49	4.61	0.57282	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.34337	0.0894	L	0.31476	0.935	0.09310	N	1	B;P	0.37731	0.134;0.607	B;B	0.30782	0.084;0.12	T	0.08848	-1.0702	9	0.12430	T	0.62	.	11.1109	0.48232	0.0:0.8591:0.0:0.1409	.	331;331	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	S	331	ENSP00000312070:P331S	ENSP00000312070:P331S	P	+	1	0	PCDHGC3	140836858	0.001000	0.12720	0.992000	0.48379	0.976000	0.68499	0.869000	0.27996	2.865000	0.98341	0.655000	0.94253	CCC	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251808.2		+	ENST00000308177.3	Missense_Mutation	SNP	5 : 140856674 - 140856674 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	302	63
XKR9	389668	broad.mit.edu	37	8	71646310	71646310	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71646310G>T	ENST00000408926.3	+	5	1307	c.773G>T	c.(772-774)aGt>aTt	p.S258I	XKR9_ENST00000520030.1_Missense_Mutation_p.S258I|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	258						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			ACTTGTATAAGTATGGAATTC	0.274		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	113	113			NA	NA	8		NA											NA				71646310		2201	4297	6498	SO:0001583	missense			AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947	389668	389668			20937	protein-coding gene	gene with protein product			X Kell blood group precursor-related family, member 9		NA		Standard	NM_001011720	NM_001287258	NA	Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.773G>T	8.37:g.71646310G>T	ENSP00000386141:p.Ser258Ile	NA	B2RNS9|B9EH74	37	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	G	4.350	0.064419	0.08388	.	.	ENSG00000221947	ENST00000408926;ENST00000520030	T;T	0.64438	-0.1;-0.1	4.99	4.09	0.47781	.	1.137670	0.06108	N	0.666720	T	0.58652	0.2137	L	0.55481	1.735	0.09310	N	1	P	0.38395	0.629	B	0.41619	0.361	T	0.46748	-0.9169	10	0.21540	T	0.41	0.5492	4.7866	0.13227	0.086:0.1521:0.6048:0.1571	.	258	Q5GH70	XKR9_HUMAN	I	258	ENSP00000386141:S258I;ENSP00000431088:S258I	ENSP00000386141:S258I	S	+	2	0	XKR9	71808864	0.993000	0.37304	0.556000	0.28293	0.194000	0.23727	2.704000	0.47118	1.268000	0.44264	0.563000	0.77884	AGT	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378752.1		+	ENST00000408926.3	Missense_Mutation	SNP	8 : 71646310 - 71646310 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	254	45
DLGAP4	22839	broad.mit.edu	37	20	35128676	35128676	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35128676G>T	ENST00000373913.3	+	10	2645	c.2165G>T	c.(2164-2166)aGc>aTc	p.S722I	DLGAP4_ENST00000373907.2_Missense_Mutation_p.S725I|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000401952.2_Missense_Mutation_p.S722I|DLGAP4_ENST00000339266.5_Missense_Mutation_p.S725I|DLGAP4_ENST00000340491.4_Missense_Mutation_p.S186I			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	725					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AATGACTCAAGCTGTAAGTCA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	89	92			NA	NA	20		NA											NA				35128676		2203	4300	6503	SO:0001583	missense			AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845	22839	22839			24476	protein-coding gene	gene with protein product					NA	9115257	Standard	NM_014902	XM_005260329	NA	Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373913.3:c.2165G>T	20.37:g.35128676G>T	ENSP00000363023:p.Ser722Ile	NA	E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	37	CCDS13274.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.794305	0.31777	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266;ENST00000340491	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.24	5.24	0.73138	.	0.215365	0.48286	D	0.000190	T	0.50922	0.1644	M	0.61703	1.905	0.32240	N	0.572839	D;B;D;P	0.57571	0.98;0.027;0.968;0.818	P;B;P;B	0.52031	0.646;0.015;0.688;0.311	T	0.57562	-0.7790	10	0.21014	T	0.42	.	15.9964	0.80250	0.0:0.0:1.0:0.0	.	31;186;725;722	F8WF49;Q9Y2H0-3;Q9Y2H0;Q9Y2H0-1	.;.;DLGP4_HUMAN;.	I	722;722;725;725;186	ENSP00000363023:S722I;ENSP00000384954:S722I;ENSP00000363014:S725I;ENSP00000341633:S725I;ENSP00000345700:S186I	ENSP00000341633:S725I	S	+	2	0	DLGAP4	34562090	1.000000	0.71417	0.995000	0.50966	0.924000	0.55760	2.939000	0.48995	2.448000	0.82819	0.650000	0.86243	AGC	DLGAP4-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079023.1		+	ENST00000373913.3	Missense_Mutation	SNP	20 : 35128676 - 35128676 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	382	70
KIAA1522	57648	broad.mit.edu	37	1	33233558	33233558	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33233558G>T	ENST00000294521.3	+	2	365	c.229G>T	c.(229-231)Gag>Tag	p.E77*	KIAA1522_ENST00000401073.2_Splice_Site_p.E136*|KIAA1522_ENST00000373481.3_Splice_Site_p.E88*|KIAA1522_ENST00000373480.1_Splice_Site_p.E77*	NM_001198973.1	NP_001185902.1	Q9P206	K1522_HUMAN	KIAA1522	77										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				ACAACACCAAGGTAAGCTtcc	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	66	64			NA	NA	1		NA											NA				33233558		2005	4167	6172	SO:0001630	splice_region_variant			AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522	57648	57648			29301	protein-coding gene	gene with protein product					NA	10819331	Standard		NM_020888	NA	Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000294521.3:c.229+1G>T	1.37:g.33233558G>T		NA	B5MDY0|Q8TCQ0	37	CCDS55589.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826624	0.71143	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000294521;ENST00000373480	.	.	.	5.03	4.12	0.48240	.	0.000000	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-7.3583	13.3902	0.60821	0.0776:0.0:0.9224:0.0	.	.	.	.	X	136;88;77;77	.	ENSP00000294521:E77X	E	+	1	0	KIAA1522	33006145	1.000000	0.71417	1.000000	0.80357	0.397000	0.30659	8.778000	0.91785	1.269000	0.44280	0.462000	0.41574	GAG	KIAA1522-005	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382044.1	Nonsense_Mutation	+	ENST00000294521.3	Splice_Site	SNP	1 : 33233558 - 33233558 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	413	21
YES1	7525	broad.mit.edu	37	18	756664	756664	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:756664C>A	ENST00000584307.1	-	2	334	c.164G>T	c.(163-165)aGc>aTc	p.S55I	YES1_ENST00000577961.1_Missense_Mutation_p.S60I|YES1_ENST00000314574.4_Missense_Mutation_p.S55I|YES1_ENST00000577611.1_5'UTR			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase	55					blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	GGAAAGACTGCTGAAATTAAC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													251	208	223			NA	NA	18		NA											NA				756664		2203	4300	6503	SO:0001583	missense			M15990	CCDS11824.1	18p11.31-p11.21	2014-06-26	2014-06-26		ENSG00000176105	ENSG00000176105	7525	7525		SH2 domain containing	12841	protein-coding gene	gene with protein product		164880	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1		NA	2983418	Standard	NM_005433	NM_005433	NA	Approved	Yes, c-yes, HsT441	uc002kky.3	P07947	OTTHUMG00000131472	ENST00000584307.1:c.164G>T	18.37:g.756664C>A	ENSP00000462468:p.Ser55Ile	NA	A6NLB3|D3DUH1	37	CCDS11824.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.567998	0.28003	.	.	ENSG00000176105	ENST00000359834;ENST00000314574	T	0.74947	-0.89	4.91	-2.04	0.07343	.	0.513334	0.22949	N	0.053687	T	0.48040	0.1478	N	0.08118	0	0.24759	N	0.992936	B	0.19445	0.036	B	0.14023	0.01	T	0.41484	-0.9506	10	0.59425	D	0.04	.	7.5341	0.27700	0.0:0.1655:0.1453:0.6892	.	55	P07947	YES_HUMAN	I	55	ENSP00000324740:S55I	ENSP00000324740:S55I	S	-	2	0	YES1	746664	0.994000	0.37717	0.590000	0.28732	0.972000	0.66771	0.469000	0.22067	-0.087000	0.12528	0.561000	0.74099	AGC	YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000440827.2		-	ENST00000584307.1	Missense_Mutation	SNP	18 : 756664 - 756664 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	887	152
MRPS34	65993	broad.mit.edu	37	16	1822318	1822318	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1822318C>A	ENST00000177742.3	-	3	612	c.582G>T	c.(580-582)gaG>gaT	p.E194D	MRPS34_ENST00000397375.2_Missense_Mutation_p.E187D			P82930	RT34_HUMAN	mitochondrial ribosomal protein S34	187						mitochondrion|ribosome	protein binding			breast(1)|skin(2)	3						GCATGGGCTCCTCGGTGCTTG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	101	108			NA	NA	16		NA											NA				1822318		2196	4299	6495	SO:0001583	missense			BC001182	CCDS10444.1, CCDS73805.1	16p13.3	2012-09-13			ENSG00000074071	ENSG00000074071	65993	65993		Mitochondrial ribosomal proteins / small subunits	16618	protein-coding gene	gene with protein product		611994			NA		Standard	NM_023936	NM_023936	NA	Approved	MRP-S12, MGC2616	uc002cmo.3	P82930	OTTHUMG00000128636	ENST00000177742.3:c.582G>T	16.37:g.1822318C>A	ENSP00000177742:p.Glu194Asp	NA	Q9BVI7	37		.	.	.	.	.	.	.	.	.	.	C	8.419	0.846007	0.16963	.	.	ENSG00000074071	ENST00000397375;ENST00000177742	T;T	0.35236	1.32;1.32	4.31	2.18	0.27775	.	0.734279	0.13004	N	0.421381	T	0.25717	0.0626	L	0.43152	1.355	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.13710	-1.0499	10	0.38643	T	0.18	-24.4263	3.2935	0.06957	0.3427:0.4531:0.0:0.2042	.	194;187	C9JJ19;P82930	.;RT34_HUMAN	D	187;194	ENSP00000380531:E187D;ENSP00000177742:E194D	ENSP00000177742:E194D	E	-	3	2	MRPS34	1762319	0.999000	0.42202	0.928000	0.36995	0.025000	0.11179	0.828000	0.27435	0.812000	0.34326	-0.258000	0.10820	GAG	MRPS34-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000250507.1		-	ENST00000177742.3	Missense_Mutation	SNP	16 : 1822318 - 1822318 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	565	102
ZIC2	7546	broad.mit.edu	37	13	100637299	100637299	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:100637299C>A	ENST00000376335.3	+	2	1468	c.1175C>A	c.(1174-1176)cCc>cAc	p.P392H	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	392					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCCGATAAGCCCTATCTCTGC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(97;119 1522 31925 44771 48764)							NA				0													150	124	132			NA	NA	13		NA											NA				100637299		2203	4300	6503	SO:0001583	missense			AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355	7546	7546		Zinc fingers, C2H2-type	12873	protein-coding gene	gene with protein product	Zinc finger protein of the cerebellum 2	603073	Zic family member 2 (odd-paired Drosophila homolog), Zic family member 2 (odd-paired homolog, Drosophila)		NA	9771712	Standard	NM_007129	NM_007129	NA	Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.1175C>A	13.37:g.100637299C>A	ENSP00000365514:p.Pro392His	NA	Q5VYA9|Q9H309	37	CCDS9495.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896693	0.91962	.	.	ENSG00000043355	ENST00000376335;ENST00000397444	T	0.17528	2.27	4.09	4.09	0.47781	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.45438	0.1342	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54227	-0.8325	10	0.87932	D	0	.	15.5713	0.76341	0.0:1.0:0.0:0.0	.	392	O95409	ZIC2_HUMAN	H	392;141	ENSP00000365514:P392H	ENSP00000365514:P392H	P	+	2	0	ZIC2	99435300	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.553000	0.82203	2.241000	0.73720	0.655000	0.94253	CCC	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045618.2		+	ENST00000376335.3	Missense_Mutation	SNP	13 : 100637299 - 100637299 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	610	89
WDR31	114987	broad.mit.edu	37	9	116094247	116094247	+	Translation_Start_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116094247C>A	ENST00000374193.4	-	3	302	c.56G>T	c.(55-57)aGg>aTg	p.R19M	WDR31_ENST00000461942.1_Intron|WDR31_ENST00000374195.3_De_novo_Start_OutOfFrame|WDR31_ENST00000341761.4_Missense_Mutation_p.R19M	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	19										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						GACACAAAACCTAAACGAAAC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	137	146			NA	NA	9		NA											NA				116094247		2203	4300	6503	SO:0001583	missense			BC012352	CCDS6792.1, CCDS35110.1	9q33.1	2013-01-09			ENSG00000148225	ENSG00000148225	114987	114987		WD repeat domain containing	21421	protein-coding gene	gene with protein product	similar to spermatid WD-repeat protein				NA		Standard	NM_145241	NM_145241	NA	Approved	FLJ35921	uc004bhb.3	Q8NA23	OTTHUMG00000020525	ENST00000374193.4:c.56G>T	9.37:g.116094247C>A	ENSP00000363308:p.Arg19Met	NA	Q5W0T9|Q96EG8	37	CCDS35110.1	.	.	.	.	.	.	.	.	.	.	C	9.949	1.219539	0.22373	.	.	ENSG00000148225	ENST00000374193;ENST00000341761	T;T	0.66815	-0.2;-0.23	5.87	-0.0403	0.13872	.	1.347990	0.04219	N	0.333086	T	0.56804	0.2010	L	0.44542	1.39	0.09310	N	0.999998	B;B	0.28584	0.138;0.216	B;B	0.34385	0.088;0.181	T	0.47086	-0.9144	10	0.42905	T	0.14	5.335	0.6637	0.00847	0.1702:0.3512:0.1655:0.3131	.	19;19	Q8NA23;Q8NA23-2	WDR31_HUMAN;.	M	19	ENSP00000363308:R19M;ENSP00000345027:R19M	ENSP00000345027:R19M	R	-	2	0	WDR31	115134068	0.000000	0.05858	0.006000	0.13384	0.076000	0.17211	0.073000	0.14640	0.379000	0.24794	0.650000	0.86243	AGG	WDR31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053734.2		-	ENST00000374193.4	Missense_Mutation	SNP	9 : 116094247 - 116094247 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	38
SRFBP1	153443	broad.mit.edu	37	5	121362759	121362759	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121362759C>T	ENST00000339397.4	+	8	1300	c.1228C>T	c.(1228-1230)Cga>Tga	p.R410*	SRFBP1_ENST00000504881.1_Intron	NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm		p.R410*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		AAGCAGAAGGCGAAAAGAACA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Nonsense(1)	large_intestine(1)											47	45	46			NA	NA	5		NA											NA				121362759		1835	4090	5925	SO:0001587	stop_gained			AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304	153443	153443			26333	protein-coding gene	gene with protein product	BUD22 homolog (S. cerevisiae)	610479			NA	15492011	Standard	NM_152546	NM_152546	NA	Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.1228C>T	5.37:g.121362759C>T	ENSP00000341324:p.Arg410*	NA	Q5QFI2|Q96AH4|Q96DK2	37	CCDS43354.1	.	.	.	.	.	.	.	.	.	.	C	37	6.268854	0.97426	.	.	ENSG00000151304	ENST00000339397	.	.	.	5.76	3.98	0.46160	.	0.060687	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.7732	10.9237	0.47180	0.1307:0.8022:0.0:0.0671	.	.	.	.	X	410	.	ENSP00000341324:R410X	R	+	1	2	SRFBP1	121390658	1.000000	0.71417	0.979000	0.43373	0.945000	0.59286	3.375000	0.52410	0.785000	0.33685	0.655000	0.94253	CGA	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000371200.1		+	ENST00000339397.4	Nonsense_Mutation	SNP	5 : 121362759 - 121362759 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	204	40
PIK3C3	5289	broad.mit.edu	37	18	39623705	39623705	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:39623705T>A	ENST00000262039.4	+	20	2198	c.2112T>A	c.(2110-2112)ttT>ttA	p.F704L	PIK3C3_ENST00000587402.1_Missense_Mutation_p.F51L|PIK3C3_ENST00000593098.1_Missense_Mutation_p.F189L|PIK3C3_ENST00000589056.1_Missense_Mutation_p.F51L|PIK3C3_ENST00000398870.3_Missense_Mutation_p.F641L	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	704	PI3K/PI4K.				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						AGAACTTTTTTAGAAAATATG	0.338		NA								TSP Lung(28;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(37;552 1060 2683 16430 37914)							NA				0													107	104	105			NA	NA	18		NA											NA				39623705		2203	4300	6503	SO:0001583	missense			Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	5289	5289	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	phosphoinositide-3-kinase, class 3		NA	7628435	Standard	NM_002647	NM_002647	NA	Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.2112T>A	18.37:g.39623705T>A	ENSP00000262039:p.Phe704Leu	NA	Q15134	37	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	T	9.354	1.066183	0.20067	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	D;D	0.83075	-1.68;-1.68	5.46	-1.11	0.09840	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.177758	0.50627	D	0.000117	T	0.61060	0.2317	N	0.15975	0.35	0.80722	D	1	B;P;B	0.39576	0.019;0.679;0.016	B;B;B	0.36666	0.037;0.23;0.011	T	0.48927	-0.8991	9	.	.	.	.	5.5724	0.17204	0.1396:0.4296:0.0:0.4308	.	641;641;704	A8MYT4;B4DPV9;Q8NEB9	.;.;PK3C3_HUMAN	L	704;641	ENSP00000262039:F704L;ENSP00000381845:F641L	.	F	+	3	2	PIK3C3	37877703	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	1.018000	0.30002	-0.112000	0.11979	0.528000	0.53228	TTT	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255804.1		+	ENST00000262039.4	Missense_Mutation	SNP	18 : 39623705 - 39623705 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	413	86
FAM175A	84142	broad.mit.edu	37	4	84391390	84391390	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:84391390G>A	ENST00000321945.7	-	5	550	c.442C>T	c.(442-444)Cga>Tga	p.R148*	FAM175A_ENST00000506553.1_Nonsense_Mutation_p.R99*|FAM175A_ENST00000505489.1_5'UTR	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	148					chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						TGTTCCAGTCGATGAGTAGAG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	82	81			NA	NA	4		NA											NA				84391390		2203	4300	6503	SO:0001587	stop_gained			AK023676	CCDS3605.2	4q21.23	2008-10-31	2008-07-02	2008-07-02	ENSG00000163322	ENSG00000163322	84142	84142			25829	protein-coding gene	gene with protein product	Abraxas protein	611143	coiled-coil domain containing 98	CCDC98	NA	12975309, 17525340	Standard	NM_139076	NM_139076	NA	Approved	FLJ13614, ABRA1	uc003hou.2	Q6UWZ7	OTTHUMG00000130429	ENST00000321945.7:c.442C>T	4.37:g.84391390G>A	ENSP00000369857:p.Arg148*	NA	A5JJ07|Q9H8I1|Q9H9N4	37	CCDS3605.2	.	.	.	.	.	.	.	.	.	.	G	37	6.046630	0.97231	.	.	ENSG00000163322	ENST00000321945;ENST00000506553;ENST00000511801	.	.	.	5.9	2.86	0.33363	.	0.168866	0.49916	D	0.000136	.	.	.	.	.	.	0.51482	D	0.999924	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.2989	9.8395	0.40991	0.0788:0.0:0.6061:0.315	.	.	.	.	X	148;99;99	.	ENSP00000369857:R148X	R	-	1	2	FAM175A	84610414	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	1.988000	0.40697	0.777000	0.33496	0.563000	0.77884	CGA	FAM175A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252818.1		-	ENST00000321945.7	Nonsense_Mutation	SNP	4 : 84391390 - 84391390 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	544	114
NOP56	10528	broad.mit.edu	37	20	2636076	2636076	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2636076G>T	ENST00000329276.5	+	6	1191	c.675G>T	c.(673-675)gaG>gaT	p.E225D		NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	225					rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						AACTGAATGAGGACAAGCTGG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	122	124			NA	NA	20		NA											NA				2636076		2203	4300	6503	SO:0001583	missense			Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361	10528	10528			15911	protein-coding gene	gene with protein product	spinocerebellar ataxia 36	614154	nucleolar protein 5A (56kD with KKE/D repeat), nucleolar protein 5A (56kDa with KKE/D repeat), NOP56 ribonucleoprotein homolog (yeast)	NOL5A	NA	9372940, 21683323	Standard	NM_006392	NR_027700	NA	Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.675G>T	20.37:g.2636076G>T	ENSP00000370589:p.Glu225Asp	NA	Q2M3T6|Q9NQ05	37	CCDS13030.1	.	.	.	.	.	.	.	.	.	.	G	7.609	0.674327	0.14841	.	.	ENSG00000101361	ENST00000329276;ENST00000445139	T;T	0.76578	-1.03;0.88	5.69	-3.39	0.04868	.	0.000000	0.85682	D	0.000000	T	0.53997	0.1831	N	0.11651	0.15	0.54753	D	0.999985	B	0.17465	0.022	B	0.14578	0.011	T	0.25222	-1.0138	10	0.16420	T	0.52	-23.0047	14.4351	0.67274	0.2564:0.0:0.7436:0.0	.	225	O00567	NOP56_HUMAN	D	225;254	ENSP00000370589:E225D;ENSP00000388497:E254D	ENSP00000370589:E225D	E	+	3	2	NOP56	2584076	1.000000	0.71417	0.770000	0.31555	0.980000	0.70556	1.873000	0.39558	-0.531000	0.06340	0.561000	0.74099	GAG	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077631.2		+	ENST00000329276.5	Missense_Mutation	SNP	20 : 2636076 - 2636076 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	420	84
ZNF318	24149	broad.mit.edu	37	6	43308239	43308239	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43308239T>G	ENST00000361428.2	-	10	3574	c.3497A>C	c.(3496-3498)aAa>aCa	p.K1166T	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1166					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			ATCCACATATTTCTGGGAAGA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	22	22			NA	NA	6		NA											NA				43308239		2024	4166	6190	SO:0001630	splice_region_variant			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467	24149	24149		Zinc fingers, C2H2-type	13578	protein-coding gene	gene with protein product					NA	10873617	Standard	NM_014345	NM_014345	NA	Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.3496-1A>C	6.37:g.43308239T>G		NA	O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	37	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	T	16.62	3.172794	0.57584	.	.	ENSG00000171467	ENST00000361428	T	0.55052	0.54	5.69	5.69	0.88448	Zinc finger, U1-type (1);	0.118294	0.56097	D	0.000028	T	0.65344	0.2682	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69971	-0.5000	10	0.72032	D	0.01	-9.9518	15.9526	0.79855	0.0:0.0:0.0:1.0	.	1166	Q5VUA4	ZN318_HUMAN	T	1166	ENSP00000354964:K1166T	ENSP00000354964:K1166T	K	-	2	0	ZNF318	43416217	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.399000	0.59703	2.168000	0.68352	0.533000	0.62120	AAA	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040601.2	Missense_Mutation	-	ENST00000361428.2	Splice_Site	SNP	6 : 43308239 - 43308239 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	207	22
STAB2	55576	broad.mit.edu	37	12	104157272	104157272	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104157272G>A	ENST00000388887.2	+	68	7695	c.7491G>A	c.(7489-7491)tcG>tcA	p.S2497S	RP11-341G23.4_ENST00000551299.1_RNA|RP11-341G23.4_ENST00000550029.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2497					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.S2497S(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCAAACAGTCGGAAGAGGACA	0.527		NA												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)											250	244	246			NA	NA	12		NA											NA				104157272		2203	4300	6503	SO:0001819	synonymous_variant			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011	55576	55576			18629	protein-coding gene	gene with protein product	hyaluronic acid receptor for endocytosis	608561			NA	11829752, 12077138	Standard		XR_429107	NA	Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.7491G>A	12.37:g.104157272G>A		NA	Q6ZMK2|Q7Z5N9|Q86UR4|Q8IUG9|Q8TES1|Q9H7H7|Q9NRY3	37	CCDS31888.1																																																																																			STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407089.1		+	ENST00000388887.2	Silent	SNP	12 : 104157272 - 104157272 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1538	384
CCDC129	223075	broad.mit.edu	37	7	31682321	31682321	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31682321G>T	ENST00000409210.1	+	9	1245	c.1061G>T	c.(1060-1062)aGt>aTt	p.S354I	CCDC129_ENST00000319386.3_Missense_Mutation_p.S298I|CCDC129_ENST00000407970.3_Missense_Mutation_p.S446I|CCDC129_ENST00000451887.2_Missense_Mutation_p.S472I			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	446										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AACAGCCAGAGTCCTGCTGAG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	54	56			NA	NA	7		NA											NA				31682321		2203	4300	6503	SO:0001583	missense			AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347	223075	223075			27363	protein-coding gene	gene with protein product					NA	14702039	Standard	NM_194300	NM_001257967	NA	Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000409210.1:c.1061G>T	7.37:g.31682321G>T	ENSP00000387214:p.Ser354Ile	NA	A2RU17|B3KTI9|B4E2R1	37		.	.	.	.	.	.	.	.	.	.	G	15.92	2.976069	0.53720	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.29397	1.57;2.17;2.16;1.91	5.85	4.05	0.47172	.	0.307115	0.28815	N	0.014044	T	0.48502	0.1503	M	0.66939	2.045	0.09310	N	1	D;D;D;D	0.89917	1.0;0.99;0.99;0.996	D;P;P;P	0.70716	0.97;0.868;0.79;0.787	T	0.34229	-0.9837	10	0.87932	D	0	-19.9654	8.1795	0.31302	0.1767:0.0:0.8233:0.0	.	472;456;446;298	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	I	298;446;472;456;354	ENSP00000313062:S298I;ENSP00000384416:S446I;ENSP00000395835:S472I;ENSP00000387214:S354I	ENSP00000313062:S298I	S	+	2	0	CCDC129	31648846	0.001000	0.12720	0.008000	0.14137	0.017000	0.09413	0.635000	0.24629	1.487000	0.48415	0.585000	0.79938	AGT	CCDC129-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000328240.2		+	ENST00000409210.1	Missense_Mutation	SNP	7 : 31682321 - 31682321 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	254	21
DNAH3	55567	broad.mit.edu	37	16	20975642	20975642	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20975642C>A	ENST00000261383.3	-	53	9563	c.9564G>T	c.(9562-9564)aaG>aaT	p.K3188N	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3188	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGAGACAGACCTTCACGGCAA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	86	86			NA	NA	16		NA											NA				20975642		2201	4300	6501	SO:0001583	missense			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486	55567	55567		Axonemal dyneins	2949	protein-coding gene	gene with protein product		603334	dynein, axonemal, heavy polypeptide 3		NA	9256245, 9373155	Standard	NM_017539	NM_017539	NA	Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.9564G>T	16.37:g.20975642C>A	ENSP00000261383:p.Lys3188Asn	NA	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858220	0.51376	.	.	ENSG00000158486	ENST00000261383	T	0.22743	1.94	6.03	-0.0983	0.13629	.	0.112712	0.64402	D	0.000012	T	0.55386	0.1917	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64605	-0.6368	10	0.87932	D	0	.	10.7353	0.46122	0.0:0.3047:0.0:0.6953	.	3188	Q8TD57	DYH3_HUMAN	N	3188	ENSP00000261383:K3188N	ENSP00000261383:K3188N	K	-	3	2	DNAH3	20883143	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	1.073000	0.30691	-0.046000	0.13446	-0.294000	0.09567	AAG	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207361.1		-	ENST00000261383.3	Missense_Mutation	SNP	16 : 20975642 - 20975642 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	528	126
MYH14	79784	broad.mit.edu	37	19	50804952	50804952	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50804952G>A	ENST00000601313.1	+	40	5534	c.5504G>A	c.(5503-5505)cGc>cAc	p.R1835H	MYH14_ENST00000598205.1_Missense_Mutation_p.R1802H|MYH14_ENST00000596571.1_Missense_Mutation_p.R1794H|MYH14_ENST00000376970.2_Missense_Mutation_p.R1827H|MYH14_ENST00000262269.8_Missense_Mutation_p.R1835H|MYH14_ENST00000440075.2_Missense_Mutation_p.R1835H|MYH14_ENST00000425460.1_Missense_Mutation_p.R1802H	NM_001145809.1	NP_001139281.1	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1794					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TCAGCTGAGCGCAGTTTCTCA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	45	44			NA	NA	19		NA											NA				50804952		2062	4227	6289	SO:0001583	missense			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357	79784	79784		Myosins / Myosin superfamily : Class II	23212	protein-coding gene	gene with protein product		608568	myosin, heavy polypeptide 14, myosin, heavy chain 14	DFNA4	NA	12909352, 15015131, 17940200	Standard	NM_024729	NM_024729	NA	Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000601313.1:c.5504G>A	19.37:g.50804952G>A	ENSP00000470298:p.Arg1835His	NA	B0I1S2|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	37	CCDS54295.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888252	0.91814	.	.	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28	4.08	4.08	0.47627	Myosin tail (1);	.	.	.	.	D	0.89570	0.6753	M	0.82630	2.6	0.47905	D	0.999542	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91176	0.4972	9	0.87932	D	0	.	14.1423	0.65327	0.0:0.0:1.0:0.0	.	1835;1794;1802	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	H	1835;1827;1802;1578;1835	ENSP00000406273:R1835H;ENSP00000366169:R1827H;ENSP00000407879:R1802H;ENSP00000262269:R1835H	ENSP00000262269:R1835H	R	+	2	0	MYH14	55496764	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.594000	0.82698	2.274000	0.75844	0.591000	0.81541	CGC	MYH14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464709.2		+	ENST00000601313.1	Missense_Mutation	SNP	19 : 50804952 - 50804952 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	328	51
PIGO	84720	broad.mit.edu	37	9	35095227	35095227	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35095227C>T	ENST00000378617.3	-	2	730	c.336G>A	c.(334-336)gaG>gaA	p.E112E	PIGO_ENST00000361778.2_Silent_p.E112E|PIGO_ENST00000341666.3_Silent_p.E112E|PIGO_ENST00000298004.5_Silent_p.E112E|PIGO_ENST00000492770.1_5'UTR	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	112					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GGGGCTGAATCTCCAGGATCC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	100	99			NA	NA	9		NA											NA				35095227		2203	4300	6503	SO:0001819	synonymous_variant			AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282	84720	84720		Phosphatidylinositol glycan anchor biosynthesis	23215	protein-coding gene	gene with protein product		614730	phosphatidylinositol glycan, class O		NA	10781593	Standard	NM_032634	NM_032634	NA	Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.336G>A	9.37:g.35095227C>T		NA	B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	37	CCDS6575.1																																																																																			PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052284.1		-	ENST00000378617.3	Silent	SNP	9 : 35095227 - 35095227 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	749	145
TTC23	64927	broad.mit.edu	37	15	99740177	99740177	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99740177C>T	ENST00000394132.2	-	9	1523	c.706G>A	c.(706-708)Ggt>Agt	p.G236S	TTC23_ENST00000558613.1_Missense_Mutation_p.G236S|TTC23_ENST00000558663.1_Missense_Mutation_p.G236S|TTC23_ENST00000262074.4_Missense_Mutation_p.G236S|TTC23_ENST00000394135.3_Missense_Mutation_p.G236S|TTC23_ENST00000394130.1_Missense_Mutation_p.G236S|TTC23_ENST00000394136.1_Missense_Mutation_p.G236S|TTC23_ENST00000394129.2_Missense_Mutation_p.G236S			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	236							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TGCTCTACACCTGCTAATTCT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													274	241	252			NA	NA	15		NA											NA				99740177		2197	4297	6494	SO:0001583	missense				CCDS10379.2	15q26.3	2013-01-11			ENSG00000103852	ENSG00000103852	64927	64927		Tetratricopeptide (TTC) repeat domain containing	25730	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_022905	NM_001288615	NA	Approved	FLJ12572, HCC-8	uc002bux.3	Q5W5X9	OTTHUMG00000147344	ENST00000394132.2:c.706G>A	15.37:g.99740177C>T	ENSP00000377690:p.Gly236Ser	NA	A8K6M5|Q53HK0|Q96BC9|Q9H8W9|Q9H9S7	37	CCDS10379.2	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808939	0.90707	.	.	ENSG00000103852	ENST00000394132;ENST00000394136;ENST00000262074;ENST00000394135;ENST00000394130;ENST00000394129	T;T;T;T;T;T	0.75704	2.57;2.57;2.57;2.57;0.03;-0.96	5.87	3.98	0.46160	Tetratricopeptide-like helical (1);	0.299368	0.36740	N	0.002439	T	0.66436	0.2789	L	0.60455	1.87	0.09310	N	1	B;P	0.48294	0.291;0.908	B;P	0.44422	0.073;0.449	T	0.57087	-0.7871	10	0.07644	T	0.81	-3.1979	8.012	0.30359	0.1572:0.7622:0.0:0.0806	.	236;236	Q5W5X9-2;Q5W5X9	.;TTC23_HUMAN	S	236	ENSP00000377690:G236S;ENSP00000377693:G236S;ENSP00000262074:G236S;ENSP00000377692:G236S;ENSP00000377688:G236S;ENSP00000457901:G236S	ENSP00000262074:G236S	G	-	1	0	TTC23	97557700	0.024000	0.19004	0.015000	0.15790	0.984000	0.73092	2.426000	0.44731	0.922000	0.37019	0.655000	0.94253	GGT	TTC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000303953.2		-	ENST00000394132.2	Missense_Mutation	SNP	15 : 99740177 - 99740177 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	665	117
ACSM1	116285	broad.mit.edu	37	16	20681265	20681265	+	Translation_Start_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20681265G>T	ENST00000307493.4	-	5	863	c.796C>A	c.(796-798)Ctg>Atg	p.L266M	ACSM1_ENST00000219151.4_De_novo_Start_InFrame|ACSM1_ENST00000520010.1_Missense_Mutation_p.L266M	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	266					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GAGTCCGACAGGCACCAGGAG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	120	127			NA	NA	16		NA											NA				20681265		2201	4300	6501	SO:0001583	missense			AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	116285	116285	6.2.1.2	Acyl-CoA synthetase family	18049	protein-coding gene	gene with protein product		614357	butyryl Coenzyme A synthetase 1	BUCS1	NA	11470804, 12654705	Standard	NM_052956	NM_052956	NA	Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.796C>A	16.37:g.20681265G>T	ENSP00000301956:p.Leu266Met	NA	Q08AH2|Q96A20	37	CCDS10587.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252155	0.22880	.	.	ENSG00000166743	ENST00000307493;ENST00000520010	T;T	0.44083	0.93;0.93	5.05	-9.56	0.00566	AMP-dependent synthetase/ligase (1);	1.387560	0.05286	N	0.520143	T	0.21550	0.0519	N	0.25789	0.76	0.25753	N	0.985031	B	0.21606	0.058	B	0.21917	0.037	T	0.12400	-1.0549	10	0.23302	T	0.38	.	4.6505	0.12592	0.0689:0.3267:0.2181:0.3862	.	266	Q08AH1	ACSM1_HUMAN	M	266	ENSP00000301956:L266M;ENSP00000428047:L266M	ENSP00000301956:L266M	L	-	1	2	ACSM1	20588766	0.000000	0.05858	0.023000	0.16930	0.376000	0.30014	-2.590000	0.00899	-1.145000	0.02858	0.514000	0.50259	CTG	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254412.1		-	ENST00000307493.4	Missense_Mutation	SNP	16 : 20681265 - 20681265 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	9
JAK3	3718	broad.mit.edu	37	19	17945726	17945726	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17945726C>T	ENST00000527670.1	-	15	2163	c.2134G>A	c.(2134-2136)Ggc>Agc	p.G712S	JAK3_ENST00000458235.1_Missense_Mutation_p.G712S|JAK3_ENST00000534444.1_Missense_Mutation_p.G712S			P52333	JAK3_HUMAN	Janus kinase 3	712	Protein kinase 1.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						ACCGTGGCGCCGAAGCCCCAC	0.622		2	Mis		acute megakaryocytic leukemia, ETP ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0													69	73	72			NA	NA	19		NA											NA				17945726		2203	4300	6503	SO:0001583	missense			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	3718	3718	2.7.10.1		6193	protein-coding gene	gene with protein product	tyrosine-protein kinase JAK3, leukocyte Janus kinase	600173			NA	8921370, 9226382	Standard	NM_000215	NM_000215	NA	Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.2134G>A	19.37:g.17945726C>T	ENSP00000432511:p.Gly712Ser	NA	Q13259|Q13260|Q13611|Q99699|Q9Y6S2	37	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983442	0.93044	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	D;D;D	0.87571	-2.27;-2.27;-2.27	4.89	4.89	0.63831	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95175	0.8436	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.78314	0.991;0.871	D	0.96490	0.9363	10	0.87932	D	0	-18.3596	15.5458	0.76097	0.0:1.0:0.0:0.0	.	712;712	P52333-2;P52333	.;JAK3_HUMAN	S	712	ENSP00000391676:G712S;ENSP00000432511:G712S;ENSP00000436421:G712S	ENSP00000391676:G712S	G	-	1	0	JAK3	17806726	1.000000	0.71417	0.918000	0.36340	0.887000	0.51463	7.375000	0.79646	2.255000	0.74692	0.555000	0.69702	GGC	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385549.1		-	ENST00000527670.1	Missense_Mutation	SNP	19 : 17945726 - 17945726 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	596	62
DPP10	57628	broad.mit.edu	37	2	116066831	116066831	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:116066831G>A	ENST00000410059.1	+	2	557	c.77G>A	c.(76-78)aGc>aAc	p.S26N	DPP10_ENST00000310323.8_Missense_Mutation_p.S19N|DPP10_ENST00000409163.1_5'UTR|DPP10_ENST00000393147.2_Missense_Mutation_p.S30N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	26	Mediates effects on KCND2.				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GGAAGTAACAGCCCTCCACAG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													185	171	176			NA	NA	2		NA											NA				116066831		2203	4300	6503	SO:0001583	missense			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497	57628	57628			20823	protein-coding gene	gene with protein product		608209	dipeptidylpeptidase 10, dipeptidyl-peptidase 10		NA	10819331, 12662155	Standard	NM_020868	NM_020868	NA	Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.77G>A	2.37:g.116066831G>A	ENSP00000386565:p.Ser26Asn	NA	A8K1Q2|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	37	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	3.332	-0.136495	0.06711	.	.	ENSG00000175497	ENST00000410059;ENST00000393146;ENST00000393147;ENST00000310323	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.6	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.26738	0.0654	N	0.25245	0.725	0.43267	D	0.995217	B;B;B;B	0.18610	0.029;0.0;0.008;0.014	B;B;B;B	0.23018	0.043;0.002;0.013;0.013	T	0.08472	-1.0720	10	0.02654	T	1	-1.0384	13.8543	0.63517	0.0735:0.0:0.9265:0.0	.	19;30;22;26	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	N	26;22;30;19	ENSP00000386565:S26N;ENSP00000376854:S22N;ENSP00000376855:S30N;ENSP00000309066:S19N	ENSP00000309066:S19N	S	+	2	0	DPP10	115783301	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.471000	0.45127	1.375000	0.46248	0.655000	0.94253	AGC	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330580.4		+	ENST00000410059.1	Missense_Mutation	SNP	2 : 116066831 - 116066831 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	59
ATP10B	23120	broad.mit.edu	37	5	160063213	160063213	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:160063213G>T	ENST00000327245.5	-	11	1950	c.1104C>A	c.(1102-1104)ttC>ttA	p.F368L	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	368					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(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCATTGTGAGGAACATGTAGA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	69	69			NA	NA	5		NA											NA				160063213		1900	4119	6019	SO:0001583	missense			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322	23120	23120		ATPases / P-type	13543	protein-coding gene	gene with protein product			ATPase, Class V, type 10B		NA	9872452, 11015572	Standard	NM_025153	NM_025153	NA	Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1104C>A	5.37:g.160063213G>T	ENSP00000313600:p.Phe368Leu	NA	Q9H725	37	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372293	0.82573	.	.	ENSG00000118322	ENST00000327245	D	0.87966	-2.32	5.18	0.379	0.16213	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.90283	0.6961	M	0.69185	2.1	0.58432	D	0.999991	D;P;D;D	0.89917	1.0;0.914;1.0;0.999	D;P;D;D	0.97110	1.0;0.868;0.999;0.996	D	0.87226	0.2257	9	.	.	.	.	8.8292	0.35074	0.485:0.0:0.515:0.0	.	412;368;340;368	B4DHG1;O94823-2;O94823-3;O94823	.;.;.;AT10B_HUMAN	L	368	ENSP00000313600:F368L	.	F	-	3	2	ATP10B	159995791	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	1.951000	0.40333	0.208000	0.20626	0.555000	0.69702	TTC	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374127.1		-	ENST00000327245.5	Missense_Mutation	SNP	5 : 160063213 - 160063213 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	321	59
OR5C1	392391	broad.mit.edu	37	9	125551396	125551396	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125551396C>T	ENST00000373680.2	+	1	247	c.185C>T	c.(184-186)cCt>cTt	p.P62L		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						CTCCACACACCTATGTACTTC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	133	136			NA	NA	9		NA											NA				125551396		2203	4300	6503	SO:0001583	missense			AF399514	CCDS35131.1	9q34.2	2012-08-09			ENSG00000148215	ENSG00000148215	392391	392391		GPCR / Class A : Olfactory receptors	8331	protein-coding gene	gene with protein product				OR5C2P	NA		Standard		NM_001001923	NA	Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	Q8NGR4	OTTHUMG00000020622	ENST00000373680.2:c.185C>T	9.37:g.125551396C>T	ENSP00000362784:p.Pro62Leu	NA	B2RN54|B9EGT0|Q96RC4	37	CCDS35131.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780487	0.90195	.	.	ENSG00000148215	ENST00000373680	T	0.02032	4.49	5.29	5.29	0.74685	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36167	U	0.002743	T	0.15696	0.0378	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00077	-1.2115	10	0.87932	D	0	.	17.8648	0.88793	0.0:1.0:0.0:0.0	.	62	Q8NGR4	OR5C1_HUMAN	L	62	ENSP00000362784:P62L	ENSP00000362784:P62L	P	+	2	0	OR5C1	124591217	1.000000	0.71417	0.938000	0.37757	0.973000	0.67179	4.795000	0.62489	2.741000	0.93983	0.650000	0.86243	CCT	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053953.1		+	ENST00000373680.2	Missense_Mutation	SNP	9 : 125551396 - 125551396 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	763	140
ACTN2	88	broad.mit.edu	37	1	236850076	236850076	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236850076G>A	ENST00000366578.4	+	1	269	c.103G>A	c.(103-105)Gcc>Acc	p.A35T	ACTN2_ENST00000542672.1_Missense_Mutation_p.A35T|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	35	Actin-binding.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCTGGACCCAGCCTGGGAGAA	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	37	38			NA	NA	1		NA											NA				236850076		2203	4300	6503	SO:0001583	missense			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522	88	88		EF-hand domain containing	164	protein-coding gene	gene with protein product		102573			NA	1339456	Standard	NM_001103	NM_001103	NA	Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.103G>A	1.37:g.236850076G>A	ENSP00000355537:p.Ala35Thr	NA	B1ANE4|Q86TF4|Q86TI8	37	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573356	0.86542	.	.	ENSG00000077522	ENST00000542672;ENST00000366578	T;T	0.59364	0.27;0.27	3.6	2.66	0.31614	Calponin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.55497	0.1924	L	0.55743	1.74	0.80722	D	1	B;B	0.27559	0.181;0.03	B;B	0.35470	0.203;0.02	T	0.58629	-0.7603	10	0.87932	D	0	.	12.0331	0.53410	0.0:0.0:0.8257:0.1743	.	35;35	B2RCS5;P35609	.;ACTN2_HUMAN	T	35	ENSP00000443495:A35T;ENSP00000355537:A35T	ENSP00000355537:A35T	A	+	1	0	ACTN2	234916699	1.000000	0.71417	0.991000	0.47740	0.797000	0.45037	8.721000	0.91446	0.670000	0.31165	0.462000	0.41574	GCC	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096628.1		+	ENST00000366578.4	Missense_Mutation	SNP	1 : 236850076 - 236850076 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	182	18
PCDHGA10	56106	broad.mit.edu	37	5	140793471	140793471	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140793471G>A	ENST00000398610.2	+	1	729	c.729G>A	c.(727-729)gcG>gcA	p.A243A	PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			protocadherin gamma subfamily A, 10	NA										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGACAACGCGCCGGTCTTCA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	47	46			NA	NA	5		NA											NA				140793471		2051	4181	6232	SO:0001819	synonymous_variant				CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846	56106	56106		Cadherins / Protocadherins : Clustered	8697	other	protocadherin		606297			NA	10380929	Standard	NM_018913	NM_018913	NA	Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.729G>A	5.37:g.140793471G>A		NA		37	CCDS47292.1																																																																																			PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374747.1		+	ENST00000398610.2	Silent	SNP	5 : 140793471 - 140793471 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	305	62
PEX5L	51555	broad.mit.edu	37	3	179592146	179592146	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179592146G>A	ENST00000467460.1	-	7	1025	c.695C>T	c.(694-696)gCt>gTt	p.A232V	PEX5L_ENST00000263962.8_Missense_Mutation_p.A230V|PEX5L_ENST00000465751.1_Missense_Mutation_p.A208V|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000392649.3_Missense_Mutation_p.A124V|PEX5L_ENST00000464614.1_Missense_Mutation_p.A124V|PEX5L_ENST00000468741.1_Missense_Mutation_p.A40V|PEX5L_ENST00000476138.1_Missense_Mutation_p.A189V|PEX5L_ENST00000485199.1_Missense_Mutation_p.A197V|PEX5L_ENST00000472994.1_Missense_Mutation_p.A173V	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	232					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CAATTCTGAAGCCGACTCAGA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	101	101			NA	NA	3		NA											NA				179592146		2203	4300	6503	SO:0001583	missense			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757	51555	51555		Tetratricopeptide (TTC) repeat domain containing	30024	protein-coding gene	gene with protein product		611058			NA	11463335	Standard	NM_016559	NM_016559	NA	Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.695C>T	3.37:g.179592146G>A	ENSP00000419975:p.Ala232Val	NA	Q9NQD1|Q9P2U3|Q9P2U4	37	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.975104	0.34848	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751;ENST00000496721	D;D;D;D;D;D;D;D;D	0.87650	-2.28;-2.28;-2.26;-2.24;-2.24;-2.26;-2.27;-2.24;-2.27	5.55	4.66	0.58398	.	0.448650	0.24942	N	0.034377	T	0.74673	0.3747	N	0.08118	0	0.22081	N	0.999371	B;B;B;B;B;B	0.25904	0.049;0.02;0.0;0.082;0.137;0.02	B;B;B;B;B;B	0.21546	0.016;0.011;0.001;0.035;0.035;0.01	T	0.65100	-0.6250	10	0.39692	T	0.17	-2.5038	13.3172	0.60413	0.0744:0.0:0.9256:0.0	.	173;208;124;230;197;232	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	V	232;230;197;230;124;40;189;120;173;124;208;40	ENSP00000419975:A232V;ENSP00000263962:A230V;ENSP00000418440:A197V;ENSP00000376420:A124V;ENSP00000418665:A40V;ENSP00000420555:A189V;ENSP00000418054:A173V;ENSP00000417270:A124V;ENSP00000419348:A208V	ENSP00000263962:A230V	A	-	2	0	PEX5L	181074840	0.992000	0.36948	0.095000	0.20976	0.592000	0.36648	4.313000	0.59160	1.458000	0.47871	0.650000	0.86243	GCT	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348577.1		-	ENST00000467460.1	Missense_Mutation	SNP	3 : 179592146 - 179592146 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	69
CHRM3	1131	broad.mit.edu	37	1	240070910	240070910	+	Silent	SNP	C	C	T	rs149077005	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240070910C>T	ENST00000255380.4	+	5	938	c.159C>T	c.(157-159)gaC>gaT	p.D53D		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	53					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CCTCTCCAGACGGTACCACCG	0.572		NA											C	2	9e-04	0.0041	NA	2184	NA	1	,	,	NA	6e-04	NA	NA	NA	9e-04	0.9756	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0								C		11,4395	17.9+/-39.9	0,11,2192	96	91	93		159	-3	0	1	dbSNP_134	93	0,8600		0,0,4300	no	coding-synonymous	CHRM3	NM_000740.2		0,11,6492	TT,TC,CC	NA	0.0,0.2497,0.0846		53/591	240070910	11,12995	2203	4300	6503	SO:0001819	synonymous_variant			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019	1131	1131		Cholinergic receptors, GPCR / Class A : Cholinergic receptors, muscarinic	1952	protein-coding gene	gene with protein product	acetylcholine receptor, muscarinic 3	118494			NA		Standard	NM_000740	XM_005273032	NA	Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.159C>T	1.37:g.240070910C>T		NA	Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	37	CCDS1616.1																																																																																			CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095644.2		+	ENST00000255380.4	Silent	SNP	1 : 240070910 - 240070910 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	592	123
ADCY5	111	broad.mit.edu	37	3	123047580	123047580	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123047580G>A	ENST00000491190.1	-	7	1152	c.615C>T	c.(613-615)tgC>tgT	p.C205C	ADCY5_ENST00000309879.5_Silent_p.C222C|ADCY5_ENST00000462833.1_Silent_p.C572C			O95622	ADCY5_HUMAN	adenylate cyclase 5	572					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CAAGGACACCGCAGTGTACTC	0.592		NA									OREG0015742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	139	152			NA	NA	3		NA											NA				123047580		2203	4300	6503	SO:0001819	synonymous_variant			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	111	111	4.6.1.1	Adenylate cyclases	236	protein-coding gene	gene with protein product		600293			NA	10481931	Standard	XM_171048	NM_183357	NA	Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000491190.1:c.615C>T	3.37:g.123047580G>A		1523	Q7RTV7|Q8NFM3	37																																																																																				ADCY5-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000355890.1		-	ENST00000491190.1	Silent	SNP	3 : 123047580 - 123047580 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	477	87
CSMD3	114788	broad.mit.edu	37	8	113697892	113697892	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113697892C>T	ENST00000297405.5	-	15	2469	c.2225G>A	c.(2224-2226)gGa>gAa	p.G742E	CSMD3_ENST00000455883.2_Missense_Mutation_p.G638E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G742E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G702E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	742	CUB 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAAATTATTTCCATACCCTTC	0.403		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	94	91			NA	NA	8		NA											NA				113697892		2203	4300	6503	SO:0001583	missense			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796	114788	114788			19291	protein-coding gene	gene with protein product		608399			NA		Standard	NM_052900	NM_052900	NA	Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2225G>A	8.37:g.113697892C>T	ENSP00000297405:p.Gly742Glu	NA	Q96PZ3	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.098694	0.76870	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39	5.72	5.72	0.89469	CUB (5);	0.000000	0.64402	D	0.000001	T	0.40119	0.1104	M	0.66939	2.045	0.52501	D	0.999954	D;D;D	0.89917	0.984;1.0;1.0	D;D;D	0.97110	0.96;1.0;1.0	T	0.08534	-1.0717	10	0.10902	T	0.67	.	19.8753	0.96867	0.0:1.0:0.0:0.0	.	638;742;702	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	E	702;742;82;638;742	ENSP00000345799:G702E;ENSP00000297405:G742E;ENSP00000341558:G82E;ENSP00000412263:G638E;ENSP00000343124:G742E	ENSP00000297405:G742E	G	-	2	0	CSMD3	113767068	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.711000	0.92665	0.655000	0.94253	GGA	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347141.1		-	ENST00000297405.5	Missense_Mutation	SNP	8 : 113697892 - 113697892 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	449	96
GGH	8836	broad.mit.edu	37	8	63927900	63927900	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:63927900T>C	ENST00000260118.6	-	9	1350	c.948A>G	c.(946-948)atA>atG	p.I316M		NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	316	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	TTCAATCAAATATGTAACATT	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	53	53			NA	NA	8		NA											NA				63927900		2196	4291	6487	SO:0001583	missense			U55206	CCDS6177.1	8q12.3	2008-02-05			ENSG00000137563	ENSG00000137563	8836	8836	3.4.19.9		4248	protein-coding gene	gene with protein product		601509			NA	8816764, 10570974	Standard		NM_003878	NA	Approved		uc003xuw.3	Q92820	OTTHUMG00000164365	ENST00000260118.6:c.948A>G	8.37:g.63927900T>C	ENSP00000260118:p.Ile316Met	NA		37	CCDS6177.1	.	.	.	.	.	.	.	.	.	.	T	12.79	2.043502	0.36085	.	.	ENSG00000137563	ENST00000260118	T	0.44881	0.91	5.74	-6.28	0.02020	.	0.447666	0.28093	N	0.016622	T	0.17152	0.0412	N	0.25031	0.7	0.27732	N	0.944785	B	0.22276	0.067	B	0.20184	0.028	T	0.03795	-1.1003	10	0.35671	T	0.21	-16.6356	1.2416	0.01964	0.3572:0.2029:0.3014:0.1386	.	316	Q92820	GGH_HUMAN	M	316	ENSP00000260118:I316M	ENSP00000260118:I316M	I	-	3	3	GGH	64090454	0.986000	0.35501	0.811000	0.32455	0.959000	0.62525	0.101000	0.15251	-0.758000	0.04690	0.528000	0.53228	ATA	GGH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378453.1		-	ENST00000260118.6	Missense_Mutation	SNP	8 : 63927900 - 63927900 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	85	13
PRR14	78994	broad.mit.edu	37	16	30664242	30664242	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30664242G>A	ENST00000542965.2	+	4	778	c.322G>A	c.(322-324)Gac>Aac	p.D108N	PRR14_ENST00000300835.4_Missense_Mutation_p.D108N			Q9BWN1	PRR14_HUMAN	proline rich 14	108	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			TAGGCCTCCCGACCCTCTGTG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	46	45			NA	NA	16		NA											NA				30664242		2197	4300	6497	SO:0001583	missense			AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858	78994	78994			28458	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024031	NM_024031	NA	Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.322G>A	16.37:g.30664242G>A	ENSP00000441641:p.Asp108Asn	NA	Q8WTX2	37	CCDS10687.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.372918	0.24857	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.61158	0.13;0.13	5.5	3.46	0.39613	.	0.325087	0.26116	N	0.026241	T	0.49898	0.1584	M	0.64997	1.995	0.09310	N	1	B	0.15930	0.015	B	0.14578	0.011	T	0.48779	-0.9005	10	0.54805	T	0.06	-0.9373	5.4869	0.16755	0.1091:0.0:0.6967:0.1942	.	108	Q9BWN1	PRR14_HUMAN	N	81;108;108	ENSP00000300835:D108N;ENSP00000441641:D108N	ENSP00000287463:D81N	D	+	1	0	PRR14	30571743	0.859000	0.29813	0.010000	0.14722	0.110000	0.19582	2.079000	0.41577	0.587000	0.29643	0.585000	0.79938	GAC	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434433.1		+	ENST00000542965.2	Missense_Mutation	SNP	16 : 30664242 - 30664242 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	377	81
BPTF	2186	broad.mit.edu	37	17	65971920	65971920	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65971920C>T	ENST00000306378.6	+	27	8632	c.8572C>T	c.(8572-8574)Cga>Tga	p.R2858*	BPTF_ENST00000335221.5_Nonsense_Mutation_p.R2841*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.R2702*|BPTF_ENST00000321892.4_Nonsense_Mutation_p.R2984*	NM_182641.3	NP_872579.2	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2984					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGTACAAAGACGATATTATGA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	84	85			NA	NA	17		NA											NA				65971920		2203	4300	6503	SO:0001587	stop_gained			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634	2186	2186		Zinc fingers, PHD-type	3581	protein-coding gene	gene with protein product		601819	fetal Alzheimer antigen	FALZ	NA	8975731, 10662542, 16728976	Standard	NM_182641, NM_004459	NM_182641	NA	Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000306378.6:c.8572C>T	17.37:g.65971920C>T	ENSP00000307208:p.Arg2858*	NA	Q6NX67|Q7Z7D6|Q9UIG2	37	CCDS11673.1	.	.	.	.	.	.	.	.	.	.	C	51	18.463470	0.99905	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892;ENST00000342579	.	.	.	5.64	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.8102	15.5413	0.76052	0.147:0.853:0.0:0.0	.	.	.	.	X	2858;2841;2984;189	.	ENSP00000307208:R2858X	R	+	1	2	BPTF	63402382	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.983000	0.70540	1.346000	0.45694	0.591000	0.81541	CGA	BPTF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255334.2		+	ENST00000306378.6	Nonsense_Mutation	SNP	17 : 65971920 - 65971920 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	54
RALGAPA1	253959	broad.mit.edu	37	14	36041836	36041836	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36041836C>T	ENST00000382366.3	-	38	5917	c.5819G>A	c.(5818-5820)gGt>gAt	p.G1940D	RALGAPA1_ENST00000258840.6_Missense_Mutation_p.G1974D|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.G1927D|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.G1927D	NM_001283043.1	NP_001269972.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1927	Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP.				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AAGGACATCACCAAATTCTGT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	109	109			NA	NA	14		NA											NA				36041836		2203	4297	6500	SO:0001583	missense			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373	253959	253959			17770	protein-coding gene	gene with protein product	tuberin-like protein 1, GAP-related interacting protein to E12	608884	GTPase activating RANGAP domain-like 1, GTPase activating Rap/RanGAP domain-like 1	GARNL1	NA	19520869	Standard	XM_210022	NM_014990	NA	Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000382366.3:c.5819G>A	14.37:g.36041836C>T	ENSP00000371803:p.Gly1940Asp	NA	A6NMA4|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.715974|4.715974	0.89205|0.89205	.|.	.|.	ENSG00000174373|ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892|ENST00000554573	D;D;D;D;D;D|.	0.93763|.	-3.28;-3.28;-3.28;-3.28;-3.28;-3.28|.	5.15|5.15	5.15|5.15	0.70609|0.70609	Rap/ran-GAP (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71187|0.71187	0.3310|0.3310	L|L	0.56199|0.56199	1.76|1.76	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;0.992;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;0.928;0.998|.	T|T	0.69038|0.69038	-0.5251|-0.5251	10|5	0.42905|.	T|.	0.14|.	-13.561|-13.561	18.6419|18.6419	0.91398|0.91398	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1974;1940;1927;1927|.	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0|.	.;.;.;RGPA1_HUMAN|.	D|M	1927;1927;1927;1974;565;1940;1974|210	ENSP00000374348:G1927D;ENSP00000302647:G1927D;ENSP00000258840:G1974D;ENSP00000451133:G565D;ENSP00000371803:G1940D;ENSP00000451877:G1974D|.	ENSP00000258840:G1974D|.	G|V	-|-	2|1	0|0	RALGAPA1|RALGAPA1	35111587|35111587	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.818000|7.818000	0.86416|0.86416	2.403000|2.403000	0.81681|0.81681	0.460000|0.460000	0.39030|0.39030	GGT|GTG	RALGAPA1-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000409830.1		-	ENST00000382366.3	Missense_Mutation	SNP	14 : 36041836 - 36041836 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	460	79
C7orf25	79020	broad.mit.edu	37	7	42949923	42949923	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42949923C>T	ENST00000350427.4	-	2	852	c.577G>A	c.(577-579)Gta>Ata	p.V193I	C7orf25_ENST00000447342.1_Missense_Mutation_p.V193I|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000438029.1_Missense_Mutation_p.V193I|C7orf25_ENST00000431882.2_Missense_Mutation_p.V251I			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	193										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						TTGACTGCTACTATGTCTCCT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	79	81			NA	NA	7		NA											NA				42949923		2203	4300	6503	SO:0001583	missense			BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197	79020	79020			21703	protein-coding gene	gene with protein product					NA		Standard	NM_024054	NM_024054	NA	Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.577G>A	7.37:g.42949923C>T	ENSP00000343364:p.Val193Ile	NA	A4D1V2|Q9H779	37	CCDS5466.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077554	0.36662	.	.	ENSG00000136197	ENST00000350427;ENST00000447342;ENST00000431882;ENST00000438029	T;T;T;T	0.48522	0.85;0.85;0.81;0.85	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.36441	0.0967	L	0.29908	0.895	0.80722	D	1	P;P	0.36086	0.476;0.536	B;B	0.32393	0.145;0.134	T	0.13308	-1.0514	10	0.12430	T	0.62	-15.6413	20.1083	0.97900	0.0:1.0:0.0:0.0	.	251;193	B4DQM3;Q9BPX7	.;CG025_HUMAN	I	193;193;251;193	ENSP00000343364:V193I;ENSP00000413029:V193I;ENSP00000416290:V251I;ENSP00000396597:V193I	ENSP00000343364:V193I	V	-	1	0	C7orf25	42916448	1.000000	0.71417	0.952000	0.39060	0.996000	0.88848	7.484000	0.81180	2.764000	0.94973	0.556000	0.70494	GTA	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250814.2		-	ENST00000350427.4	Missense_Mutation	SNP	7 : 42949923 - 42949923 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	381	63
ASXL1	171023	broad.mit.edu	37	20	31024411	31024411	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31024411G>A	ENST00000375687.4	+	13	4320	c.3896G>A	c.(3895-3897)gGc>gAc	p.G1299D	ASXL1_ENST00000306058.5_Missense_Mutation_p.G1294D	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1299					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AATGTTACAGGCCAAGGGAAG	0.557		NA	F, N, Mis		MDS, CMML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0													67	66	66			NA	NA	20		NA											NA				31024411		2203	4300	6503	SO:0001583	missense			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456	171023	171023			18318	protein-coding gene	gene with protein product		612990	additional sex combs like 1 (Drosophila)		NA	12657473	Standard	NM_015338	NM_015338	NA	Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3896G>A	20.37:g.31024411G>A	ENSP00000364839:p.Gly1299Asp	NA	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	37	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.838653	0.32513	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.17854	2.26;2.25	4.56	3.61	0.41365	.	0.384664	0.29660	N	0.011527	T	0.11495	0.0280	L	0.36672	1.1	0.33225	D	0.555162	B;B	0.25390	0.125;0.125	B;B	0.20184	0.028;0.028	T	0.09840	-1.0656	10	0.32370	T	0.25	-11.0831	5.8012	0.18414	0.0966:0.0:0.6978:0.2056	.	1294;1299	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	D	1299;1299;1299;1220;1294	ENSP00000364839:G1299D;ENSP00000305119:G1294D	ENSP00000305119:G1294D	G	+	2	0	ASXL1	30488072	0.928000	0.31464	0.995000	0.50966	0.412000	0.31113	0.863000	0.27913	1.531000	0.49152	0.561000	0.74099	GGC	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078624.2		+	ENST00000375687.4	Missense_Mutation	SNP	20 : 31024411 - 31024411 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	453	72
AFTPH	54812	broad.mit.edu	37	2	64779607	64779607	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64779607G>T	ENST00000238856.4	+	2	1313	c.999G>T	c.(997-999)aaG>aaT	p.K333N	AFTPH_ENST00000409933.1_Missense_Mutation_p.K333N|AFTPH_ENST00000422803.1_Missense_Mutation_p.K333N|AFTPH_ENST00000238855.7_Missense_Mutation_p.K333N	NM_001002243.2|NM_017657.4	NP_001002243.1|NP_060127.3	Q6ULP2	AFTIN_HUMAN	aftiphilin	333					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TTCAGTCAAAGGCTTGGAGTT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	103	102			NA	NA	2		NA											NA				64779607		2203	4300	6503	SO:0001583	missense			AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844	54812	54812			25951	protein-coding gene	gene with protein product					NA	14665628, 15758025, 15811338	Standard	NM_017657	NM_017657	NA	Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000238856.4:c.999G>T	2.37:g.64779607G>T	ENSP00000238856:p.Lys333Asn	NA	D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	37	CCDS1878.1	.	.	.	.	.	.	.	.	.	.	G	1.882	-0.457507	0.04508	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	4.47	3.55	0.40652	.	0.943333	0.08875	N	0.880981	T	0.14743	0.0356	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.26809	0.001;0.001;0.001;0.16	B;B;B;B	0.24701	0.001;0.001;0.001;0.055	T	0.31392	-0.9945	10	0.17832	T	0.49	1.9068	3.7104	0.08417	0.1505:0.0:0.5355:0.314	.	333;333;333;333	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	N	333	ENSP00000238856:K333N;ENSP00000397726:K333N;ENSP00000238855:K333N;ENSP00000387071:K333N	ENSP00000238855:K333N	K	+	3	2	AFTPH	64633111	0.986000	0.35501	0.317000	0.25265	0.965000	0.64279	1.792000	0.38754	1.405000	0.46838	0.585000	0.79938	AAG	AFTPH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327302.1		+	ENST00000238856.4	Missense_Mutation	SNP	2 : 64779607 - 64779607 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	652	80
TMEM259	91304	broad.mit.edu	37	19	1014397	1014397	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1014397C>T	ENST00000356663.3	-	2	422	c.301G>A	c.(301-303)Gtg>Atg	p.V101M	TMEM259_ENST00000333175.5_Missense_Mutation_p.V101M	NM_001033026.1	NP_001028198.1			transmembrane protein 259	NA											NA						TTGTCACGCACATGCTCCAGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	33	33			NA	NA	19		NA											NA				1014397		2203	4299	6502	SO:0001583	missense			BC008957	CCDS12052.1, CCDS32862.1	19p13.3	2013-02-06	2013-02-06	2013-02-06	ENSG00000182087	ENSG00000182087	91304	91304			17039	protein-coding gene	gene with protein product	membralin, aspecific BCL2 ARE-binding protein 1	611011	chromosome 19 open reading frame 6	C19orf6	NA	12638133, 16084606	Standard	NM_033420	XM_005259675	NA	Approved	MGC4022, ASBABP1, MBRL	uc002lqr.1	Q4ZIN3		ENST00000356663.3:c.301G>A	19.37:g.1014397C>T	ENSP00000349087:p.Val101Met	NA		37	CCDS32862.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.666893	0.67814	.	.	ENSG00000182087	ENST00000356663;ENST00000333175	.	.	.	4.19	4.19	0.49359	.	0.140470	0.47093	D	0.000247	T	0.64811	0.2632	L	0.55213	1.73	0.58432	D	0.999995	P;P	0.46706	0.858;0.883	P;P	0.53102	0.596;0.718	T	0.65475	-0.6159	9	0.40728	T	0.16	-15.2317	15.6616	0.77190	0.0:1.0:0.0:0.0	.	101;101	Q4ZIN3-2;Q4ZIN3	.;MBRL_HUMAN	M	101	.	ENSP00000331423:V101M	V	-	1	0	C19orf6	965397	1.000000	0.71417	0.997000	0.53966	0.308000	0.27856	5.248000	0.65421	2.182000	0.69389	0.561000	0.74099	GTG	TMEM259-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458236.1		-	ENST00000356663.3	Missense_Mutation	SNP	19 : 1014397 - 1014397 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	258	38
BRPF1	7862	broad.mit.edu	37	3	9783725	9783725	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9783725T>A	ENST00000424362.1	+	6	2275	c.1871T>A	c.(1870-1872)aTt>aAt	p.I624N	BRPF1_ENST00000302054.3_Missense_Mutation_p.I624N|BRPF1_ENST00000383829.2_Missense_Mutation_p.I624N|BRPF1_ENST00000433861.2_Missense_Mutation_p.I624N|BRPF1_ENST00000457855.1_Missense_Mutation_p.I624N			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	624	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GTTCAGCAGATTGCCATGGAG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	69	70			NA	NA	3		NA											NA				9783725		2203	4300	6503	SO:0001583	missense			M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983	7862	7862			14255	protein-coding gene	gene with protein product	peregrin, bromodomain-containing protein, 140kD	602410			NA	8946209, 7906940	Standard	NM_001003694	NM_001003694	NA	Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000424362.1:c.1871T>A	3.37:g.9783725T>A	ENSP00000398863:p.Ile624Asn	NA	B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	37		.	.	.	.	.	.	.	.	.	.	T	10.64	1.407974	0.25378	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.15372	2.43;2.43;3.82;2.43;2.43	5.19	5.19	0.71726	Bromodomain (1);	0.205038	0.51477	D	0.000084	T	0.12220	0.0297	N	0.08118	0	0.39313	D	0.965114	B;B;B;B	0.24186	0.099;0.002;0.001;0.001	B;B;B;B	0.35688	0.208;0.007;0.001;0.003	T	0.29882	-0.9997	10	0.19590	T	0.45	.	15.3474	0.74350	0.0:0.0:0.0:1.0	.	624;624;624;624	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	N	624	ENSP00000402485:I624N;ENSP00000398863:I624N;ENSP00000373340:I624N;ENSP00000306297:I624N;ENSP00000410210:I624N	ENSP00000306297:I624N	I	+	2	0	BRPF1	9758725	1.000000	0.71417	0.982000	0.44146	0.659000	0.38960	5.127000	0.64727	2.074000	0.62210	0.460000	0.39030	ATT	BRPF1-003	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000338484.1		+	ENST00000424362.1	Missense_Mutation	SNP	3 : 9783725 - 9783725 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	44
DENND3	22898	broad.mit.edu	37	8	142146842	142146842	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142146842G>A	ENST00000519811.1	+	2	407	c.337G>A	c.(337-339)Gtc>Atc	p.V113I	DENND3_ENST00000262585.2_Missense_Mutation_p.V33I|DENND3_ENST00000518347.1_Missense_Mutation_p.V113I|DENND3_ENST00000424248.1_Missense_Mutation_p.V33I			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	33	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GGATGTCGCCGTCCCGGGCGG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	18	17			NA	NA	8		NA											NA				142146842		2196	4290	6486	SO:0001583	missense			AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339	22898	22898		DENN/MADD domain containing, WD repeat domain containing	29134	protein-coding gene	gene with protein product					NA	10048485	Standard	NM_014957	NM_014957	NA	Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000519811.1:c.337G>A	8.37:g.142146842G>A	ENSP00000428714:p.Val113Ile	NA	B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.338|0.338	-0.952181|-0.952181	0.02285|0.02285	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000518668|ENST00000519291;ENST00000518347;ENST00000262585;ENST00000424248;ENST00000519811;ENST00000520986;ENST00000523058	.|T;T;T;T;T;T;T	.|0.55052	.|0.54;0.54;0.54;0.54;0.54;0.54;0.54	5.61|5.61	-2.87|-2.87	0.05700|0.05700	.|uDENN (1);	.|0.737094	.|0.13752	.|N	.|0.365220	T|T	0.23133|0.23133	0.0559|0.0559	N|N	0.02247|0.02247	-0.625|-0.625	0.09310|0.09310	N|N	0.99999|0.99999	.|B;B;B;B	.|0.26258	.|0.145;0.087;0.021;0.06	.|B;B;B;B	.|0.25614	.|0.062;0.034;0.013;0.009	T|T	0.21965|0.21965	-1.0230|-1.0230	5|10	.|0.11182	.|T	.|0.66	-2.4659|-2.4659	14.6426|14.6426	0.68737|0.68737	0.4152:0.0:0.5848:0.0|0.4152:0.0:0.5848:0.0	.|.	.|113;33;113;113	.|E9PF32;A2RUS2;E5RHH2;E5RIR7	.|.;DEND3_HUMAN;.;.	H|I	89|46;113;33;33;113;113;113	.|ENSP00000430625:V46I;ENSP00000430695:V113I;ENSP00000262585:V33I;ENSP00000410594:V33I;ENSP00000428714:V113I;ENSP00000429780:V113I;ENSP00000430786:V113I	.|ENSP00000262585:V33I	R|V	+|+	2|1	0|0	DENND3|DENND3	142216024|142216024	0.014000|0.014000	0.17966|0.17966	0.006000|0.006000	0.13384|0.13384	0.001000|0.001000	0.01503|0.01503	0.016000|0.016000	0.13377|0.13377	-0.790000|-0.790000	0.04492|0.04492	-0.806000|-0.806000	0.03193|0.03193	CGT|GTC	DENND3-001	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000380189.3		+	ENST00000519811.1	Missense_Mutation	SNP	8 : 142146842 - 142146842 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	85	22
SCNN1D	6339	broad.mit.edu	37	1	1222152	1222152	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1222152A>G	ENST00000338555.2	+	5	1568	c.424A>G	c.(424-426)Agt>Ggt	p.S142G	SCNN1D_ENST00000379116.5_Missense_Mutation_p.S306G|SCNN1D_ENST00000400928.3_Missense_Mutation_p.S142G|SCNN1D_ENST00000325425.8_Missense_Mutation_p.S208G					sodium channel, non-voltage-gated 1, delta subunit	NA										lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		TCCCAGGCCGAGTCCGGTCCT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	31	30			NA	NA	1		NA											NA				1222152		2190	4290	6480	SO:0001583	missense			U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572	6339	6339		Ion channels / Sodium channel, nonvoltage-gated, Sodium channels	10601	protein-coding gene	gene with protein product		601328	sodium channel, nonvoltage-gated 1, delta, sodium channel, non-voltage-gated 1, delta		NA	8661065	Standard	NM_002978	NM_001130413	NA	Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.424A>G	1.37:g.1222152A>G	ENSP00000339504:p.Ser142Gly	NA		37		.	.	.	.	.	.	.	.	.	.	A	11.32	1.604653	0.28623	.	.	ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928	T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46	3.55	-3.62	0.04543	.	4.620690	0.00508	N	0.000170	T	0.62344	0.2420	M	0.67700	2.07	0.09310	N	1	B;B	0.12630	0.006;0.001	B;B	0.18263	0.021;0.001	T	0.49753	-0.8906	10	0.62326	D	0.03	.	4.761	0.13108	0.3933:0.2998:0.3069:0.0	.	142;306	P51172;A6NNF7	SCNND_HUMAN;.	G	173;306;142;208;142	ENSP00000368411:S306G;ENSP00000339504:S142G;ENSP00000321594:S208G;ENSP00000383717:S142G	ENSP00000321594:S208G	S	+	1	0	SCNN1D	1212015	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.332000	0.07904	-0.461000	0.06993	0.260000	0.18958	AGT	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000005802.2		+	ENST00000338555.2	Missense_Mutation	SNP	1 : 1222152 - 1222152 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	250	41
ZNF587B	100293516	broad.mit.edu	37	19	58353296	58353296	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58353296T>G	ENST00000594901.1	+	3	1470	c.1254T>G	c.(1252-1254)tcT>tcG	p.S418S	ZNF587B_ENST00000316462.4_Intron|CTD-2583A14.10_ENST00000598031.1_Intron|ZNF587B_ENST00000442832.4_Intron			B4DR41	B4DR41_HUMAN	zinc finger protein 587B	334					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				NA						GTGGGAAATCTTTTAATGAAA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001819	synonymous_variant			AK299091	CCDS56109.1	19q13.43	2013-01-08				ENSG00000269343	100293516	100293516		Zinc fingers, C2H2-type, -	37142	protein-coding gene	gene with protein product					NA		Standard	NM_001204818	NM_001204818	NA	Approved		uc021vcp.1	E7ETH6		ENST00000594901.1:c.1254T>G	19.37:g.58353296T>G		NA		37																																																																																				ZNF587B-002	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000466833.2		+	ENST00000594901.1	Silent	SNP	19 : 58353296 - 58353296 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	151	29
NAT10	55226	broad.mit.edu	37	11	34162000	34162000	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:34162000C>A	ENST00000257829.3	+	24	2679	c.2473C>A	c.(2473-2475)Ctg>Atg	p.L825M	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Missense_Mutation_p.L753M	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	825	Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CCTGAAGCGGCTGGAGATGTA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	103	109			NA	NA	11		NA											NA				34162000		2202	4298	6500	SO:0001583	missense			AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	55226	55226	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	N-acetyltransferase 10		NA	14592445, 21177859	Standard	NM_024662	NM_024662	NA	Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.2473C>A	11.37:g.34162000C>A	ENSP00000257829:p.Leu825Met	NA	Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	37	CCDS7889.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.443659	0.63067	.	.	ENSG00000135372	ENST00000257829;ENST00000531159	T;T	0.60171	0.21;0.22	5.16	3.23	0.37069	.	0.000000	0.85682	D	0.000000	T	0.74137	0.3677	M	0.85299	2.745	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.76526	-0.2927	10	0.66056	D	0.02	-13.7691	9.1058	0.36696	0.0:0.71:0.0:0.29	.	825	Q9H0A0	NAT10_HUMAN	M	825;753	ENSP00000257829:L825M;ENSP00000433011:L753M	ENSP00000257829:L825M	L	+	1	2	NAT10	34118576	0.999000	0.42202	1.000000	0.80357	0.941000	0.58515	1.525000	0.35953	1.292000	0.44672	0.467000	0.42956	CTG	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388693.1		+	ENST00000257829.3	Missense_Mutation	SNP	11 : 34162000 - 34162000 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	636	114
SIPA1	6494	broad.mit.edu	37	11	65408899	65408899	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65408899C>T	ENST00000527525.1	+	2	754	c.507C>T	c.(505-507)ctC>ctT	p.L169L	SIPA1_ENST00000394224.3_Silent_p.L169L|SIPA1_ENST00000394227.3_Silent_p.L169L|SIPA1_ENST00000534313.1_Silent_p.L169L			Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	169					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						TGTGTGAGCTCGGGGGTGAGG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	61	59			NA	NA	11		NA											NA				65408899		2201	4297	6498	SO:0001819	synonymous_variant			AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445	6494	6494			10885	protein-coding gene	gene with protein product		602180			NA	9027487	Standard	NM_006747	NM_006747	NA	Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000527525.1:c.507C>T	11.37:g.65408899C>T		NA	O14518|O60484|O60618|Q2YD83	37																																																																																				SIPA1-002	NOVEL	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000390355.1		+	ENST00000527525.1	Silent	SNP	11 : 65408899 - 65408899 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	528	53
ZFP69	339559	broad.mit.edu	37	1	40961257	40961257	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40961257C>T	ENST00000372706.1	+	6	2113	c.1107C>T	c.(1105-1107)agC>agT	p.S369S	ZFP69_ENST00000372705.3_Silent_p.S369S|RP11-656D10.3_ENST00000450713.1_RNA					ZFP69 zinc finger protein	NA											NA						AGAACATTAGCTTGGTTCAAC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	87	87			NA	NA	1		NA											NA				40961257		2203	4300	6503	SO:0001819	synonymous_variant			AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815	339559	339559		Zinc fingers, C2H2-type, -, -, -	24708	protein-coding gene	gene with protein product	ZFP69 zinc finger protein A		zinc finger protein 642	ZNF642	NA		Standard	NM_198494	XM_005270808	NA	Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.1107C>T	1.37:g.40961257C>T		NA		37	CCDS30686.1																																																																																			ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019082.1		+	ENST00000372706.1	Silent	SNP	1 : 40961257 - 40961257 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	459	39
EFCAB4B	0	broad.mit.edu	37	12	3789439	3789439	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3789439C>T	ENST00000440314.2	-	5	778	c.305G>A	c.(304-306)gGc>gAc	p.G102D	EFCAB4B_ENST00000444507.1_Missense_Mutation_p.G102D|EFCAB4B_ENST00000252322.1_Missense_Mutation_p.G102D	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN		102	EF-hand 2.				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			GGTCAGATAGCCATTGCCATC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	104	112			NA	NA	12		NA											NA				3789439		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000440314.2:c.305G>A	12.37:g.3789439C>T	ENSP00000409382:p.Gly102Asp	NA	B4E1X0|B9EK63	37	CCDS44803.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779219	0.90195	.	.	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	D;D;D	0.94232	-3.38;-1.77;-3.38	4.69	4.69	0.59074	EF-hand-like domain (1);	0.104583	0.64402	D	0.000004	D	0.97980	0.9335	H	0.97874	4.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.996	D	0.99100	1.0843	10	0.87932	D	0	-32.3133	15.1607	0.72782	0.0:1.0:0.0:0.0	.	102;102;102	D7UEQ6;Q9BSW2-2;Q9BSW2	.;.;EFC4B_HUMAN	D	102	ENSP00000409382:G102D;ENSP00000412496:G102D;ENSP00000252322:G102D	ENSP00000252322:G102D	G	-	2	0	EFCAB4B	3659700	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.149000	0.77396	2.460000	0.83146	0.561000	0.74099	GGC	EFCAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398640.2		-	ENST00000440314.2	Missense_Mutation	SNP	12 : 3789439 - 3789439 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	287	50
PTK2B	2185	broad.mit.edu	37	8	27315813	27315813	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27315813C>T	ENST00000397501.1	+	36	3625	c.2817C>T	c.(2815-2817)atC>atT	p.I939I	PTK2B_ENST00000346049.5_Silent_p.I939I|PTK2B_ENST00000420218.2_Silent_p.I897I|PTK2B_ENST00000544172.1_Silent_p.I939I|PTK2B_ENST00000338238.4_Silent_p.I897I|PTK2B_ENST00000517339.1_Silent_p.I897I	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	939	Focal adhesion targeting (FAT).|Interaction with TGFB1I1 (By similarity).				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TCCTACAGATCGAGGGCACCC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	49	54			NA	NA	8		NA											NA				27315813		2203	4300	6503	SO:0001819	synonymous_variant			U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899	2185	2185			9612	protein-coding gene	gene with protein product		601212	protein tyrosine kinase 2 beta, PTK2B protein tyrosine kinase 2 beta	FAK2	NA	7544443, 7499242	Standard	NM_004103	NM_173174	NA	Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.2817C>T	8.37:g.27315813C>T		NA	D3DST0|Q13475|Q14290|Q16709	37	CCDS6057.1																																																																																			PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219916.1		+	ENST00000397501.1	Silent	SNP	8 : 27315813 - 27315813 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	139	21
TMEM170A	124491	broad.mit.edu	37	16	75498407	75498407	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75498407C>A	ENST00000357613.4	-	1	180	c.92G>T	c.(91-93)gGg>gTg	p.G31V	TMEM170A_ENST00000566980.1_Intron|TMEM170A_ENST00000569276.1_Missense_Mutation_p.G31V|RP11-77K12.1_ENST00000561887.1_5'UTR|TMEM170A_ENST00000567796.1_Intron|TMEM170A_ENST00000561878.1_Missense_Mutation_p.G31V|RP11-77K12.1_ENST00000567194.1_Missense_Mutation_p.G31V			Q8WVE7	T170A_HUMAN	transmembrane protein 170A	31						integral to membrane				endometrium(1)	1						GCACAGGGTCCCGTTGCCCAC	0.746		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	31	32			NA	NA	16		NA											NA				75498407		2193	4289	6482	SO:0001583	missense			BX648484	CCDS10917.1	16q23.1	2008-06-10	2008-06-10	2008-06-10	ENSG00000166822	ENSG00000166822	124491	124491			29577	protein-coding gene	gene with protein product			transmembrane protein 170	TMEM170	NA	12477932	Standard	NM_145254	NM_145254	NA	Approved	FLJ37611	uc002fee.1	Q8WVE7	OTTHUMG00000137614	ENST00000357613.4:c.92G>T	16.37:g.75498407C>A	ENSP00000350230:p.Gly31Val	NA	B2R4R3|B4DPS4|D3DUK2|Q7Z6F3	37		.	.	.	.	.	.	.	.	.	.	C	17.65	3.441336	0.63067	.	.	ENSG00000166822	ENST00000357613	.	.	.	5.5	4.55	0.56014	.	0.196110	0.53938	D	0.000044	T	0.29882	0.0747	N	0.12182	0.205	0.58432	D	0.999996	B;B	0.09022	0.001;0.002	B;B	0.08055	0.001;0.003	T	0.12502	-1.0545	9	0.15952	T	0.53	-6.9541	9.2532	0.37568	0.0:0.9036:0.0:0.0964	.	31;31	Q8WVE7;Q8WVE7-2	T170A_HUMAN;.	V	31	.	ENSP00000350230:G31V	G	-	2	0	TMEM170A	74055908	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	0.978000	0.29488	2.593000	0.87608	0.655000	0.94253	GGG	TMEM170A-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000435190.1		-	ENST00000357613.4	Missense_Mutation	SNP	16 : 75498407 - 75498407 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	179	43
MRM1	79922	broad.mit.edu	37	17	34958504	34958504	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34958504C>A	ENST00000585770.1	+	0	114				MRM1_ENST00000250156.7_Missense_Mutation_p.L89I			Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)	NA					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		GGCCGAGCTGCTCCGGATGGC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	29	27			NA	NA	17		NA											NA				34958504		2196	4285	6481	SO:0001623	5_prime_UTR_variant			AK026231	CCDS32631.1	17q12	2014-05-06			ENSG00000129282	ENSG00000278619	79922	79922			26202	protein-coding gene	gene with protein product					NA	24036117	Standard	NM_024864	NM_024864	NA	Approved	FLJ22578	uc002hne.3	Q6IN84	OTTHUMG00000188443	ENST00000585770.1:c.-145C>A	17.37:g.34958504C>A		NA	A8K8E2|Q96GK2|Q9H664	37		.	.	.	.	.	.	.	.	.	.	C	12.95	2.090167	0.36855	.	.	ENSG00000129282	ENST00000250156	T	0.34859	1.34	4.9	3.84	0.44239	RNA 2-O ribose methyltransferase, substrate binding (2);	0.316156	0.30859	N	0.008730	T	0.32763	0.0840	L	0.41961	1.31	0.80722	D	1	B	0.33583	0.418	B	0.40329	0.326	T	0.04737	-1.0930	10	0.22706	T	0.39	-16.5177	10.6441	0.45610	0.0:0.7042:0.2958:0.0	.	89	Q6IN84	MRM1_HUMAN	I	89	ENSP00000250156:L89I	ENSP00000250156:L89I	L	+	1	0	MRM1	32032617	0.955000	0.32602	0.992000	0.48379	0.188000	0.23474	1.339000	0.33885	2.423000	0.82170	0.555000	0.69702	CTC	MRM1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000451392.1		+	ENST00000585770.1	5'UTR	SNP	17 : 34958504 - 34958504 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	338	82
ADAM9	8754	broad.mit.edu	37	8	38940233	38940233	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38940233G>A	ENST00000487273.2	+	17	2033	c.1955G>A	c.(1954-1956)gGa>gAa	p.G652E	ADAM9_ENST00000484143.1_3'UTR	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	652	EGF-like.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			AAGTGTCATGGACATGGGGTA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													205	200	201			NA	NA	8		NA											NA				38940233		2203	4300	6503	SO:0001583	missense			U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615	8754	8754		ADAM metallopeptidase domain containing	216	protein-coding gene	gene with protein product	meltrin gamma	602713	a disintegrin and metalloproteinase domain 9 (meltrin gamma), cone rod dystrophy 9	CORD9	NA	8647900, 11581183, 19409519	Standard		NR_027638	NA	Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.1955G>A	8.37:g.38940233G>A	ENSP00000419446:p.Gly652Glu	NA	B7ZLN7|Q10718|Q8NFM6	37	CCDS6112.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.951111	0.92660	.	.	ENSG00000168615	ENST00000487273	D	0.97232	-4.3	5.61	5.61	0.85477	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.052098	0.85682	D	0.000000	D	0.97688	0.9242	L	0.52011	1.625	0.80722	D	1	D	0.69078	0.997	D	0.64506	0.926	D	0.97468	1.0039	10	0.46703	T	0.11	.	19.989	0.97359	0.0:0.0:1.0:0.0	.	652	Q13443	ADAM9_HUMAN	E	652	ENSP00000419446:G652E	ENSP00000369249:G652E	G	+	2	0	ADAM9	39059390	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.846000	0.69444	2.803000	0.96430	0.650000	0.86243	GGA	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357291.2		+	ENST00000487273.2	Missense_Mutation	SNP	8 : 38940233 - 38940233 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	477	89
ZNF429	353088	broad.mit.edu	37	19	21719209	21719209	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21719209A>C	ENST00000358491.4	+	4	562	c.354A>C	c.(352-354)aaA>aaC	p.K118N	ZNF429_ENST00000597078.1_Intron|ZNF429_ENST00000594022.1_3'UTR	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						AAGGCTATAAAACTGTAGGTG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	75	74			NA	NA	19		NA											NA				21719209		2123	4262	6385	SO:0001583	missense			AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013	353088	353088		Zinc fingers, C2H2-type, -	20817	protein-coding gene	gene with protein product					NA		Standard	NM_001001415	NM_001001415	NA	Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.354A>C	19.37:g.21719209A>C	ENSP00000351280:p.Lys118Asn	NA	A6NLV7|Q9BZE6	37	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	11.61	1.689066	0.29962	.	.	ENSG00000197013	ENST00000358491	T	0.07216	3.21	1.17	-0.284	0.12870	.	.	.	.	.	T	0.14874	0.0359	M	0.84948	2.725	0.09310	N	1	D	0.60575	0.988	P	0.49140	0.601	T	0.14200	-1.0481	9	0.56958	D	0.05	.	1.5337	0.02541	0.4502:0.0:0.2433:0.3065	.	118	Q86V71	ZN429_HUMAN	N	118	ENSP00000351280:K118N	ENSP00000351280:K118N	K	+	3	2	ZNF429	21511049	0.000000	0.05858	0.008000	0.14137	0.160000	0.22226	0.100000	0.15231	-0.287000	0.09064	0.248000	0.18094	AAA	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463981.1		+	ENST00000358491.4	Missense_Mutation	SNP	19 : 21719209 - 21719209 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	267	40
SNRPE	6635	broad.mit.edu	37	1	203839004	203839004	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203839004G>A	ENST00000414487.2	+	5	268		c.e5-1		SNRPE_ENST00000367208.1_Splice_Site|SNRPE_ENST00000483099.1_Splice_Site	NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	small nuclear ribonucleoprotein polypeptide E	NA					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			breast(1)|large_intestine(2)|lung(1)|skin(1)	5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TTGTGTTGCAGGTCGGATCAT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(83;324 1318 17952 32395 39614)							NA				0													169	163	165			NA	NA	1		NA											NA				203839004		2203	4300	6503	SO:0001630	splice_region_variant			M37716	CCDS30979.1	1q32	2011-10-11			ENSG00000182004	ENSG00000182004	6635	6635			11161	protein-coding gene	gene with protein product		128260			NA	1835977, 2143747	Standard	NM_003094	NM_003094	NA	Approved	Sm-E	uc001hai.3	P62304	OTTHUMG00000035985	ENST00000414487.2:c.224-1G>A	1.37:g.203839004G>A		NA	B2R5B9|P08578|Q15498|Q5BKT2	37	CCDS30979.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440462	0.63067	.	.	ENSG00000182004	ENST00000414487;ENST00000367208	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1519	0.98089	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SNRPE	202105627	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	7.895000	0.87343	2.861000	0.98227	0.655000	0.94253	.	SNRPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087703.1	Intron	+	ENST00000414487.2	Splice_Site	SNP	1 : 203839004 - 203839004 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	181	25
ZNF37A	7587	broad.mit.edu	37	10	38406336	38406336	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38406336G>T	ENST00000361085.5	+	7	602	c.257G>T	c.(256-258)aGa>aTa	p.R86I	ZNF37A_ENST00000351773.3_Missense_Mutation_p.R86I	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	NA						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R86I(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AATACCAGTAGAAACTATTCA	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	large_intestine(2)											50	59	56			NA	NA	10		NA											NA				38406336		2197	4281	6478	SO:0001583	missense			X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407	7587	7587		Zinc fingers, C2H2-type, -	13102	protein-coding gene	gene with protein product			zinc finger protein 37a (KOX 21)		NA	2014798, 8464732	Standard	NM_003421	NM_001178101	NA	Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.257G>T	10.37:g.38406336G>T	ENSP00000354377:p.Arg86Ile	NA	B3KRQ3|D3DRZ3|Q96B88	37	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	G	5.320	0.244418	0.10077	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.07444	3.19;3.19	2.04	-0.00378	0.14025	.	.	.	.	.	T	0.07098	0.0180	L	0.42529	1.33	0.19775	N	0.999958	B	0.24618	0.107	B	0.22753	0.041	T	0.35325	-0.9793	9	0.44086	T	0.13	.	4.9987	0.14253	0.5084:0.0:0.4916:0.0	.	86	P17032	ZN37A_HUMAN	I	86	ENSP00000329141:R86I;ENSP00000354377:R86I	ENSP00000329141:R86I	R	+	2	0	ZNF37A	38446342	0.102000	0.21896	0.225000	0.23894	0.924000	0.55760	0.967000	0.29344	-0.154000	0.11118	0.591000	0.81541	AGA	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047624.2		+	ENST00000361085.5	Missense_Mutation	SNP	10 : 38406336 - 38406336 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	406	69
ZNF334	55713	broad.mit.edu	37	20	45131661	45131661	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45131661T>G	ENST00000457685.2	-	6	1526	c.203A>C	c.(202-204)aAa>aCa	p.K68T	ZNF334_ENST00000347606.4_Missense_Mutation_p.K106T|ZNF334_ENST00000593880.1_Missense_Mutation_p.K129T			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	106	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AATCAGTGTTTTGTTGCTGAA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	87	93			NA	NA	20		NA											NA				45131661		2203	4299	6502	SO:0001583	missense			AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185	55713	55713		Zinc fingers, C2H2-type, -	15806	protein-coding gene	gene with protein product					NA		Standard		NM_018102	NA	Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000457685.2:c.203A>C	20.37:g.45131661T>G	ENSP00000402582:p.Lys68Thr	NA	Q5T6U2|Q9NVW4	37		.	.	.	.	.	.	.	.	.	.	T	13.24	2.178949	0.38511	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.10288	3.12;2.89	3.26	-2.47	0.06442	.	.	.	.	.	T	0.09113	0.0225	L	0.52905	1.665	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.34477	-0.9827	9	0.35671	T	0.21	.	4.577	0.12238	0.0:0.309:0.163:0.528	.	68;106;129	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	T	68;106	ENSP00000402582:K68T;ENSP00000255129:K106T	ENSP00000255129:K106T	K	-	2	0	ZNF334	44565068	0.001000	0.12720	0.000000	0.03702	0.780000	0.44128	-0.017000	0.12590	-0.707000	0.05022	0.482000	0.46254	AAA	ZNF334-002	PUTATIVE	upstream_uORF|basic	protein_coding	NA	protein_coding	OTTHUMT00000464552.1		-	ENST00000457685.2	Missense_Mutation	SNP	20 : 45131661 - 45131661 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	40
SERPINB4	6318	broad.mit.edu	37	18	61305075	61305075	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61305075C>T	ENST00000341074.5	-	8	1166	c.1051G>A	c.(1051-1053)Gta>Ata	p.V351I	SERPINB4_ENST00000356424.6_Missense_Mutation_p.V299I	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4	NA										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						AATTCGACTACTACTACAGCG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	112	114			NA	NA	18		NA											NA				61305075		2203	4300	6503	SO:0001583	missense			X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073	6318	6318		Serine (or cysteine) peptidase inhibitors	10570	protein-coding gene	gene with protein product	squamous cell carcinoma antigen 2	600518	serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4	SCCA2	NA	7724531, 14630915, 24172014	Standard	NM_175041	NM_175041	NA	Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.1051G>A	18.37:g.61305075C>T	ENSP00000343445:p.Val351Ile	NA		37	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	c	4.557	0.103374	0.08731	.	.	ENSG00000206073	ENST00000341074;ENST00000356424	D;D	0.82081	-1.57;-1.57	4.25	-8.49	0.00931	Serpin domain (3);	4.508830	0.01035	N	0.004211	T	0.57403	0.2051	N	0.04387	-0.21	0.09310	N	1	B;B;B	0.12013	0.005;0.005;0.005	B;B;B	0.15484	0.013;0.013;0.013	T	0.61004	-0.7150	10	0.05351	T	0.99	.	7.6912	0.28569	0.0897:0.6499:0.0898:0.1706	.	351;351;330	Q5K684;P48594;Q9BYF7	.;SPB4_HUMAN;.	I	351;299	ENSP00000343445:V351I;ENSP00000348795:V299I	ENSP00000343445:V351I	V	-	1	0	SERPINB4	59456055	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.282000	0.00260	-2.173000	0.00773	-1.275000	0.01399	GTA	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000133794.2		-	ENST00000341074.5	Missense_Mutation	SNP	18 : 61305075 - 61305075 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	571	95
AGTPBP1	23287	broad.mit.edu	37	9	88284449	88284449	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:88284449T>G	ENST00000357081.3	-	8	757	c.613A>C	c.(613-615)Atg>Ctg	p.M205L	AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.M205L|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.M43L|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.M257L|AGTPBP1_ENST00000337006.4_Missense_Mutation_p.M147L|AGTPBP1_ENST00000376081.4_Missense_Mutation_p.M205L|AGTPBP1_ENST00000376080.1_Missense_Mutation_p.M147L			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	205					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						ATTTTAAACATCAGTTCCACA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	95	97			NA	NA	9		NA											NA				88284449		2203	4298	6501	SO:0001583	missense			AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049	23287	23287			17258	protein-coding gene	gene with protein product	cytosolic carboxypeptidase 1, tubulinyl-Tyr carboxypeptidase, carboxypeptidase-tubulin, tyrosine carboxypeptidase, soluble carboxypeptidase	606830			NA	11083920	Standard	NM_015239	NM_015239	NA	Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.613A>C	9.37:g.88284449T>G	ENSP00000349592:p.Met205Leu	NA	B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	37		.	.	.	.	.	.	.	.	.	.	T	4.883	0.164042	0.09287	.	.	ENSG00000135049	ENST00000337006;ENST00000357081;ENST00000376083;ENST00000376109;ENST00000432218;ENST00000376081;ENST00000376080	T;T;T;T;T;T;T	0.26957	1.7;1.7;2.17;2.17;1.99;1.7;1.7	5.76	-1.51	0.08664	Armadillo-like helical (1);Armadillo-type fold (1);	0.313564	0.42964	N	0.000628	T	0.07143	0.0181	N	0.03154	-0.405	0.34644	D	0.720952	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.06405	0.001;0.001;0.002;0.002	T	0.45338	-0.9268	10	0.02654	T	1	-6.8687	7.3001	0.26415	0.3228:0.0:0.3568:0.3204	.	257;205;43;205	Q9UPW5-3;Q9UPW5;B4DHX2;Q9UPW5-2	.;CBPC1_HUMAN;.;.	L	147;205;205;257;43;205;147	ENSP00000338512:M147L;ENSP00000349592:M205L;ENSP00000365251:M205L;ENSP00000365277:M257L;ENSP00000402804:M43L;ENSP00000365249:M205L;ENSP00000365248:M147L	ENSP00000338512:M147L	M	-	1	0	AGTPBP1	87474269	1.000000	0.71417	0.985000	0.45067	0.981000	0.71138	1.346000	0.33964	-0.165000	0.10908	0.533000	0.62120	ATG	AGTPBP1-004	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000052893.1		-	ENST00000357081.3	Missense_Mutation	SNP	9 : 88284449 - 88284449 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	347	61
GPR137B	7107	broad.mit.edu	37	1	236343188	236343188	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236343188G>A	ENST00000366592.3	+	4	788	c.697G>A	c.(697-699)Gtg>Atg	p.V233M	GPR137B_ENST00000366591.4_Missense_Mutation_p.V142M	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	233						integral to plasma membrane|membrane fraction				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			GGGCTCCTCCGTGTGTCAAGT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													223	188	200			NA	NA	1		NA											NA				236343188		2203	4300	6503	SO:0001583	missense			AF027826	CCDS1609.1	1q42-q43	2012-08-10	2006-01-26	2006-01-26	ENSG00000077585	ENSG00000077585	7107	7107			11862	protein-coding gene	gene with protein product		604658	transmembrane 7 superfamily member 1 (upregulated in kidney)	TM7SF1	NA	9521871	Standard	NM_003272	NM_003272	NA	Approved		uc001hxq.3	O60478	OTTHUMG00000037994	ENST00000366592.3:c.697G>A	1.37:g.236343188G>A	ENSP00000355551:p.Val233Met	NA	Q53EK7|Q5TAE6|Q6FHI3	37	CCDS1609.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635166	0.67130	.	.	ENSG00000077585	ENST00000366592;ENST00000366591;ENST00000391852;ENST00000419162	T;T;T	0.52526	0.66;1.99;0.74	5.52	5.52	0.82312	.	0.055961	0.64402	D	0.000001	T	0.70168	0.3193	M	0.72118	2.19	0.43043	D	0.994631	B;D	0.89917	0.063;1.0	B;D	0.87578	0.019;0.998	T	0.72077	-0.4399	10	0.72032	D	0.01	-15.3153	19.8119	0.96549	0.0:0.0:1.0:0.0	.	96;233	Q5TAF1;O60478	.;G137B_HUMAN	M	233;142;232;15	ENSP00000355551:V233M;ENSP00000355550:V142M;ENSP00000401841:V15M	ENSP00000355550:V142M	V	+	1	0	GPR137B	234409811	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.482000	0.81143	2.756000	0.94617	0.563000	0.77884	GTG	GPR137B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092761.1		+	ENST00000366592.3	Missense_Mutation	SNP	1 : 236343188 - 236343188 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	939	214
MAPKAPK5	8550	broad.mit.edu	37	12	112326328	112326328	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112326328C>T	ENST00000550735.2	+	11	1762	c.1006C>T	c.(1006-1008)Cag>Tag	p.Q336*	MAPKAPK5_ENST00000551404.2_Nonsense_Mutation_p.Q336*	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	336					signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			endometrium(1)|lung(11)|ovary(1)	13						TCACGCGGAACAGTTGGCCAA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	133	133			NA	NA	12		NA											NA				112326328		1993	4186	6179	SO:0001587	stop_gained			AF032437	CCDS44975.1, CCDS44976.1	12q24.13	2012-05-30			ENSG00000089022	ENSG00000089022	8550	8550			6889	protein-coding gene	gene with protein product		606723			NA	9628874	Standard	NM_139078	NM_003668	NA	Approved	PRAK	uc001tta.4	Q8IW41	OTTHUMG00000169605	ENST00000550735.2:c.1006C>T	12.37:g.112326328C>T	ENSP00000449667:p.Gln336*	NA	B3KVA5|O60491|Q86X46|Q9BVX9|Q9UG86	37	CCDS44976.1	.	.	.	.	.	.	.	.	.	.	C	41	8.908057	0.98998	.	.	ENSG00000089022	ENST00000550735;ENST00000202788;ENST00000428907;ENST00000551404;ENST00000552111	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	20.206	0.98277	0.0:1.0:0.0:0.0	.	.	.	.	X	336;336;336;336;17	.	ENSP00000202788:Q336X	Q	+	1	0	MAPKAPK5	110810711	1.000000	0.71417	0.994000	0.49952	0.660000	0.38997	7.380000	0.79704	2.785000	0.95823	0.655000	0.94253	CAG	MAPKAPK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405015.2		+	ENST00000550735.2	Nonsense_Mutation	SNP	12 : 112326328 - 112326328 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	613	145
OR2A7	401427	broad.mit.edu	37	7	143956692	143956692	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143956692C>T	ENST00000493325.1	-	1	123	c.30G>A	c.(28-30)gaG>gaA	p.E10E	OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-545C24.1_ENST00000460955.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					GTAGGAGGAACTCTGTGATGG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	149	138			NA	NA	7		NA											NA				143956692		2202	4300	6502	SO:0001819	synonymous_variant				CCDS55177.1	7q35	2013-09-20			ENSG00000243896	ENSG00000243896	401427	401427		GPCR / Class A : Olfactory receptors	8234	protein-coding gene	gene with protein product					NA		Standard		NM_001005328	NA	Approved	HSDJ0798C17	uc011kuc.2	Q96R45	OTTHUMG00000158002	ENST00000493325.1:c.30G>A	7.37:g.143956692C>T		NA	B2RN57|Q6IFP4	37	CCDS55177.1																																																																																			OR2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349979.1		-	ENST00000493325.1	Silent	SNP	7 : 143956692 - 143956692 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2061	91
TLR1	7096	broad.mit.edu	37	4	38800423	38800423	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:38800423G>T	ENST00000502213.2	-	3	259	c.30C>A	c.(28-30)atC>atA	p.I10I	TLR1_ENST00000308979.2_Silent_p.I10I			Q15399	TLR1_HUMAN	toll-like receptor 1	10					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TTAACATGAAGATAATGGCAA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(5;216 373 40795 46382)							NA				0													36	39	38			NA	NA	4		NA											NA				38800423		2196	4293	6489	SO:0001819	synonymous_variant			U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125	7096	7096		CD molecules	11847	protein-coding gene	gene with protein product		601194			NA	9435236, 7584026	Standard		NM_003263	NA	Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.30C>A	4.37:g.38800423G>T		NA	O15452|Q32MK3|Q9UG90	37	CCDS33973.1																																																																																			TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360510.3		-	ENST00000502213.2	Silent	SNP	4 : 38800423 - 38800423 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	178	15
CSDE1	7812	broad.mit.edu	37	1	115272879	115272879	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115272879C>A	ENST00000530886.1	-	10	1553	c.966G>T	c.(964-966)aaG>aaT	p.K322N	CSDE1_ENST00000438362.2_Splice_Site_p.K498N|CSDE1_ENST00000261443.5_Splice_Site_p.K421N|CSDE1_ENST00000534699.1_Splice_Site_p.K452N|CSDE1_ENST00000358528.4_Splice_Site_p.K452N|CSDE1_ENST00000369530.1_Splice_Site_p.K467N|CSDE1_ENST00000339438.6_Splice_Site_p.K421N			O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	452	CSD 4; truncated.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAAACCTACCTTCTCTTTGC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	142	141			NA	NA	1		NA											NA				115272879		2203	4300	6503	SO:0001630	splice_region_variant				CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307	7812	7812			29905	protein-coding gene	gene with protein product	upstream of NRAS	191510			NA	2204029, 10048485	Standard	NM_007158	NM_007158	NA	Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000530886.1:c.966+1G>T	1.37:g.115272879C>A		NA	A8K281|O94961|Q5TF04|Q5TF05|Q68DI9|Q9Y2S4	37		.	.	.	.	.	.	.	.	.	.	C	23.4	4.412489	0.83340	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	5.85	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.67050	0.2852	L	0.53249	1.67	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.989	D;D;D	0.80764	0.994;0.981;0.978	T	0.68387	-0.5422	8	.	.	.	-10.7055	14.8908	0.70606	0.0:0.9313:0.0:0.0687	.	467;452;498	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	N	421;498;452;421;322;467;452	.	.	K	-	3	2	CSDE1	115074402	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.448000	0.80631	1.472000	0.48140	0.655000	0.94253	AAG	CSDE1-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000392607.1	Missense_Mutation	-	ENST00000530886.1	Splice_Site	SNP	1 : 115272879 - 115272879 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	493	36
NFKBIE	4794	broad.mit.edu	37	6	44229575	44229575	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44229575T>C	ENST00000275015.5	-	3	895	c.896A>G	c.(895-897)cAt>cGt	p.H299R		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	299					cytoplasmic sequestering of transcription factor		protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TACAGCCAGATGGAGTGCTGT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	21	21			NA	NA	6		NA											NA				44229575		2201	4296	6497	SO:0001583	missense			U91616	CCDS34463.1	6p21.1	2013-01-10			ENSG00000146232	ENSG00000146232	4794	4794		Ankyrin repeat domain containing	7799	protein-coding gene	gene with protein product		604548			NA	9135156	Standard		NM_004556	NA	Approved	IKBE	uc003oxe.1	O00221	OTTHUMG00000014762	ENST00000275015.5:c.896A>G	6.37:g.44229575T>C	ENSP00000275015:p.His299Arg	NA	Q5T9V9	37	CCDS34463.1	.	.	.	.	.	.	.	.	.	.	T	8.758	0.922890	0.18056	.	.	ENSG00000146232	ENST00000275015	T	0.71341	-0.56	5.28	5.28	0.74379	Ankyrin repeat-containing domain (3);	0.059370	0.64402	D	0.000003	D	0.85323	0.5670	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89287	0.3616	10	0.87932	D	0	-0.4291	14.894	0.70630	0.0:0.0:0.0:1.0	.	299	O00221	IKBE_HUMAN	R	299	ENSP00000275015:H299R	ENSP00000275015:H299R	H	-	2	0	NFKBIE	44337553	1.000000	0.71417	0.971000	0.41717	0.995000	0.86356	8.040000	0.89188	2.000000	0.58554	0.533000	0.62120	CAT	NFKBIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040733.2		-	ENST00000275015.5	Missense_Mutation	SNP	6 : 44229575 - 44229575 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	164	8
TJP1	7082	broad.mit.edu	37	15	30065561	30065561	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30065561C>A	ENST00000400011.2	-	4	338		c.e4-1		TJP1_ENST00000346128.6_Splice_Site|TJP1_ENST00000356107.6_Splice_Site|TJP1_ENST00000495972.2_Splice_Site|TJP1_ENST00000545208.2_Splice_Site			Q07157	ZO1_HUMAN	tight junction protein 1	NA					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		ATCCAGGAGCCTAAAGTAAAA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(77;681 1843 6309 6570)							NA				0													81	73	76			NA	NA	15		NA											NA				30065561		1812	4070	5882	SO:0001630	splice_region_variant				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067	7082	7082			11827	protein-coding gene	gene with protein product	zona occludens 1, tight junction protein ZO-1	601009			NA	8825647	Standard	NM_003257	XM_005254616	NA	Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000400011.2:c.97-1G>T	15.37:g.30065561C>A		NA	B4E3K1|Q2NKP3|Q4ZGJ6	37		.	.	.	.	.	.	.	.	.	.	C	13.56	2.274696	0.40194	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7625	0.96325	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TJP1	27852853	1.000000	0.71417	0.999000	0.59377	0.057000	0.15508	7.701000	0.84566	2.749000	0.94314	0.585000	0.79938	.	TJP1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000268241.2	Intron	-	ENST00000400011.2	Splice_Site	SNP	15 : 30065561 - 30065561 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	367	53
LYG2	254773	broad.mit.edu	37	2	99860445	99860445	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99860445C>A	ENST00000409679.1	-	5	681	c.537G>T	c.(535-537)gaG>gaT	p.E179D	LYG2_ENST00000333017.2_Intron|LYG2_ENST00000423800.1_Intron|LYG2_ENST00000409238.1_Intron			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	0				GLSAFKSG -> RLYSEYFY (in Ref. 4).	cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						AAACAAAGTACTCAGAATACA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	81	82			NA	NA	2		NA											NA				99860445		2203	4300	6503	SO:0001583	missense			AF323919	CCDS2042.1	2q11.2	2008-02-05			ENSG00000185674	ENSG00000185674	254773	254773			29615	protein-coding gene	gene with protein product					NA	8889548, 12574869	Standard	NM_175735	NM_175735	NA	Approved	LYGH	uc002szw.1	Q86SG7	OTTHUMG00000130643	ENST00000409679.1:c.537G>T	2.37:g.99860445C>A	ENSP00000386381:p.Glu179Asp	NA	Q53RW0	37		.	.	.	.	.	.	.	.	.	.	C	8.788	0.929803	0.18131	.	.	ENSG00000185674	ENST00000409679	.	.	.	3.75	0.946	0.19549	.	.	.	.	.	T	0.23886	0.0578	.	.	.	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.22977	-1.0201	6	.	.	.	.	6.9098	0.24329	0.0:0.7581:0.0:0.2419	.	179	C9J4J0	.	D	179	.	.	E	-	3	2	LYG2	99226877	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.177000	0.16801	0.185000	0.20105	0.555000	0.69702	GAG	LYG2-001	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000253131.2		-	ENST00000409679.1	Missense_Mutation	SNP	2 : 99860445 - 99860445 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	474	110
LMX1B	4010	broad.mit.edu	37	9	129458652	129458652	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129458652C>T	ENST00000373474.4	+	8	1138	c.1131C>T	c.(1129-1131)gaC>gaT	p.D377D	LMX1B_ENST00000355497.5_Silent_p.D381D|LMX1B_ENST00000526117.1_Silent_p.D370D|LMX1B_ENST00000561065.1_Silent_p.D358D|LMX1B_ENST00000425646.2_Silent_p.D347D			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	354					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GCTCCTCAGACGTGGGCTCCC	0.637		NA							Nail-Patella Syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(110;1796 2278 18357 20466)							NA				0													109	111	110			NA	NA	9		NA											NA				129458652		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944	4010	4010		Homeoboxes / LIM class	6654	protein-coding gene	gene with protein product		602575		NPS1	NA	9441763, 9590287	Standard		NM_002316	NA	Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.1131C>T	9.37:g.129458652C>T		NA	O75463|Q5JU95|Q6ISC9	37	CCDS55342.1																																																																																			LMX1B-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054123.2		+	ENST00000373474.4	Silent	SNP	9 : 129458652 - 129458652 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1016	35
PROX1	5629	broad.mit.edu	37	1	214170468	214170468	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214170468C>A	ENST00000366958.4	+	2	1198	c.590C>A	c.(589-591)tCt>tAt	p.S197Y	PROX1_ENST00000261454.4_Missense_Mutation_p.S197Y|PROX1_ENST00000498508.2_Missense_Mutation_p.S197Y|PROX1_ENST00000435016.1_Missense_Mutation_p.S197Y	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	197					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GCCCCGCAGTCTGTGAGTCCC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	50	48			NA	NA	1		NA											NA				214170468		2203	4300	6503	SO:0001583	missense			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707	5629	5629		Homeoboxes / PROS class	9459	protein-coding gene	gene with protein product		601546	prospero-related homeobox 1		NA	8812486	Standard	NM_002763	NM_002763	NA	Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.590C>A	1.37:g.214170468C>A	ENSP00000355925:p.Ser197Tyr	NA	A6NK29|A8K2B1|Q5SW76|Q8TB91	37	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.327179	0.60743	.	.	ENSG00000117707	ENST00000471129;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	6.07	6.07	0.98685	.	0.355134	0.34802	N	0.003664	T	0.30262	0.0759	N	0.22421	0.69	0.58432	D	0.999999	P	0.49253	0.921	P	0.48952	0.596	T	0.01360	-1.1375	10	0.59425	D	0.04	-3.0309	20.6593	0.99626	0.0:1.0:0.0:0.0	.	197	Q92786	PROX1_HUMAN	Y	197	ENSP00000420283:S197Y;ENSP00000355925:S197Y;ENSP00000400694:S197Y;ENSP00000261454:S197Y	ENSP00000261454:S197Y	S	+	2	0	PROX1	212237091	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.763000	0.62257	2.885000	0.99019	0.655000	0.94253	TCT	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089727.6		+	ENST00000366958.4	Missense_Mutation	SNP	1 : 214170468 - 214170468 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	406	51
IQCG	84223	broad.mit.edu	37	3	197665522	197665522	+	Missense_Mutation	SNP	G	G	A	rs139671579		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197665522G>A	ENST00000265239.6	-	5	836	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	IQCG_ENST00000455191.1_Missense_Mutation_p.R138W|IQCG_ENST00000453254.1_Missense_Mutation_p.R138W	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	138										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		ACAGCGAACCGGCCTCTGTGT	0.428		NA											G	0	0	NA	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0	0	EXOME	NA	NA	0.0011	SNP								NA				0								G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	270	273	272		412,412	4.3	0.1	3	dbSNP_134	272	10,8590	7.7+/-29.5	0,10,4290	yes	missense,missense	IQCG	NM_001134435.1,NM_032263.3	101,101	0,10,6493	AA,AG,GG	NA	0.1163,0.0,0.0769	possibly-damaging,possibly-damaging	138/444,138/444	197665522	10,12996	2203	4300	6503	SO:0001583	missense			AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473	84223	84223			25251	protein-coding gene	gene with protein product	dynein regulatory complex subunit 9	612477			NA	11230166, 23427265, 24362311	Standard	NM_032263	NM_032263	NA	Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.412C>T	3.37:g.197665522G>A	ENSP00000265239:p.Arg138Trp	NA	Q9BST2|Q9HAG8	37	CCDS3331.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	15.15	2.749213	0.49257	0.0	0.001163	ENSG00000114473	ENST00000265239;ENST00000455191;ENST00000453254;ENST00000416896	T;T;T;T	0.45276	0.9;0.9;0.99;0.9	4.32	4.32	0.51571	.	1.640010	0.03032	N	0.152233	T	0.33381	0.0861	N	0.08118	0	0.09310	N	1	D;P	0.62365	0.991;0.914	P;B	0.46975	0.533;0.431	T	0.37979	-0.9682	10	0.72032	D	0.01	-10.3603	9.0042	0.36102	0.1056:0.0:0.8944:0.0	.	138;138	C9JKX8;Q9H095	.;IQCG_HUMAN	W	138;138;138;119	ENSP00000265239:R138W;ENSP00000407736:R138W;ENSP00000389897:R138W;ENSP00000406411:R119W	ENSP00000265239:R138W	R	-	1	2	IQCG	199149919	0.052000	0.20516	0.060000	0.19600	0.004000	0.04260	2.450000	0.44943	2.345000	0.79718	0.558000	0.71614	CGG	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339730.1		-	ENST00000265239.6	Missense_Mutation	SNP	3 : 197665522 - 197665522 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1492	300
ACBD3	64746	broad.mit.edu	37	1	226347059	226347059	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226347059C>A	ENST00000366812.5	-	5	783	c.729G>T	c.(727-729)aaG>aaT	p.K243N	ACBD3_ENST00000464927.1_Intron	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	243	Gln-rich.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		TTATCTGCTGCCTAAAAACAT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001630	splice_region_variant			AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827	64746	64746		A-kinase anchor proteins	15453	protein-coding gene	gene with protein product	PBR- and PKA-associated protein 7	606809	golgi complex associated protein 1, 60kDa, acyl-Coenzyme A binding domain containing 3	GOLPH1, GOCAP1	NA	12692076, 20150326	Standard	NM_022735	NM_022735	NA	Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.729-1G>T	1.37:g.226347059C>A		NA	B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	37	CCDS1551.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818545	0.71028	.	.	ENSG00000182827	ENST00000366812	T	0.47869	0.83	5.73	5.73	0.89815	.	0.095038	0.64402	D	0.000001	T	0.70937	0.3281	M	0.77820	2.39	0.80722	D	1	D	0.57899	0.981	D	0.67231	0.95	T	0.72984	-0.4125	10	0.72032	D	0.01	.	19.8989	0.96978	0.0:1.0:0.0:0.0	.	243	Q9H3P7	GCP60_HUMAN	N	243	ENSP00000355777:K243N	ENSP00000355777:K243N	K	-	3	2	ACBD3	224413682	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.500000	0.60387	2.706000	0.92434	0.555000	0.69702	AAG	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091528.1	Missense_Mutation	-	ENST00000366812.5	Splice_Site	SNP	1 : 226347059 - 226347059 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	416	64
LMX1B	4010	broad.mit.edu	37	9	129458638	129458638	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129458638C>T	ENST00000373474.4	+	8	1124	c.1117C>T	c.(1117-1119)Ctc>Ttc	p.L373F	LMX1B_ENST00000355497.5_Missense_Mutation_p.L377F|LMX1B_ENST00000526117.1_Missense_Mutation_p.L366F|LMX1B_ENST00000561065.1_Missense_Mutation_p.L354F|LMX1B_ENST00000425646.2_Missense_Mutation_p.L343F			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	350					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						CGACTGCTTCCTCGGCTCCTC	0.627		NA							Nail-Patella Syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(110;1796 2278 18357 20466)							NA				0													113	113	113			NA	NA	9		NA											NA				129458638		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944	4010	4010		Homeoboxes / LIM class	6654	protein-coding gene	gene with protein product		602575		NPS1	NA	9441763, 9590287	Standard		NM_002316	NA	Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.1117C>T	9.37:g.129458638C>T	ENSP00000362573:p.Leu373Phe	NA	O75463|Q5JU95|Q6ISC9	37	CCDS55342.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750558	0.49257	.	.	ENSG00000136944	ENST00000526117;ENST00000373474;ENST00000355497;ENST00000425646	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.19	4.29	0.51040	.	0.058355	0.64402	D	0.000005	T	0.76962	0.4061	L	0.43923	1.385	0.50039	D	0.999844	P;P;P	0.49307	0.868;0.922;0.919	P;P;P	0.53912	0.494;0.526;0.737	T	0.73474	-0.3971	10	0.31617	T	0.26	.	9.3609	0.38195	0.0:0.8364:0.0:0.1636	.	354;350;366	B7ZLH2;O60663;F8VYP0	.;LMX1B_HUMAN;.	F	366;373;377;343	ENSP00000436930:L366F;ENSP00000362573:L373F;ENSP00000347684:L377F;ENSP00000390923:L343F	ENSP00000347684:L377F	L	+	1	0	LMX1B	128498459	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.768000	0.38511	1.183000	0.42943	0.561000	0.74099	CTC	LMX1B-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054123.2		+	ENST00000373474.4	Missense_Mutation	SNP	9 : 129458638 - 129458638 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1124	236
OTX1	5013	broad.mit.edu	37	2	63282778	63282778	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:63282778C>A	ENST00000282549.2	+	5	668	c.392C>A	c.(391-393)gCt>gAt	p.A131D	OTX1_ENST00000366671.3_Missense_Mutation_p.A131D	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	131						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					ACGCCGCCAGCTGTGTCCAGC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	40	40			NA	NA	2		NA											NA				63282778		2203	4300	6503	SO:0001583	missense				CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507	5013	5013		Homeoboxes / PRD class	8521	protein-coding gene	gene with protein product		600036	orthodenticle (Drosophila) homolog 1, orthodenticle homolog 1 (Drosophila)		NA	7959790	Standard		NM_001199770	NA	Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.392C>A	2.37:g.63282778C>A	ENSP00000282549:p.Ala131Asp	NA	Q53TG6	37	CCDS1873.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.838312	0.71373	.	.	ENSG00000115507	ENST00000366671;ENST00000282549	D;D	0.90676	-2.71;-2.71	3.69	3.69	0.42338	.	0.000000	0.85682	D	0.000000	D	0.88706	0.6509	L	0.54323	1.7	0.58432	D	0.999999	P	0.42757	0.789	B	0.42882	0.401	D	0.88174	0.2866	10	0.35671	T	0.21	.	14.6986	0.69139	0.0:1.0:0.0:0.0	.	131	P32242	OTX1_HUMAN	D	131	ENSP00000355631:A131D;ENSP00000282549:A131D	ENSP00000282549:A131D	A	+	2	0	OTX1	63136282	1.000000	0.71417	0.995000	0.50966	0.970000	0.65996	4.706000	0.61845	2.062000	0.61559	0.563000	0.77884	GCT	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251617.1		+	ENST00000282549.2	Missense_Mutation	SNP	2 : 63282778 - 63282778 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	387	92
FBLN5	10516	broad.mit.edu	37	14	92347762	92347762	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92347762T>G	ENST00000267620.10	-	10	1155	c.986A>C	c.(985-987)gAc>gCc	p.D329A	FBLN5_ENST00000342058.4_Splice_Site_p.D288A|FBLN5_ENST00000556154.1_Splice_Site_p.D293A			Q9UBX5	FBLN5_HUMAN	fibulin 5	288	EGF-like 6; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TTCGTTGATGTCTGAAATGCA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	87	90			NA	NA	14		NA											NA				92347762		2203	4300	6503	SO:0001630	splice_region_variant			AJ133490	CCDS9898.1	14q31	2014-09-17				ENSG00000140092	10516	10516		Fibulins	3602	protein-coding gene	gene with protein product		604580			NA	10640802	Standard		NM_006329	NA	Approved	EVEC, UP50, DANCE, ARMD3	uc001xzx.4	Q9UBX5		ENST00000267620.10:c.986-1A>C	14.37:g.92347762T>G		NA	O75966|Q6UWA3	37		.	.	.	.	.	.	.	.	.	.	T	27.5	4.834356	0.91036	.	.	ENSG00000140092	ENST00000267620;ENST00000342058;ENST00000556154	D;D;D	0.99060	-5.38;-5.38;-5.38	5.5	5.5	0.81552	EGF-like calcium-binding, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99306	0.9757	M	0.85945	2.785	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.994;0.996	D	0.99164	1.0862	10	0.87932	D	0	.	15.9091	0.79456	0.0:0.0:0.0:1.0	.	329;293;288	G3XA98;G3V4U0;Q9UBX5	.;.;FBLN5_HUMAN	A	329;288;293	ENSP00000267620:D329A;ENSP00000345008:D288A;ENSP00000451982:D293A	ENSP00000267620:D385A	D	-	2	0	FBLN5	91417515	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.997000	0.88414	2.209000	0.71365	0.533000	0.62120	GAC	FBLN5-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000411786.1	Missense_Mutation	-	ENST00000267620.10	Splice_Site	SNP	14 : 92347762 - 92347762 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	406	76
TMEM246	84302	broad.mit.edu	37	9	104238223	104238223	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104238223G>A	ENST00000374851.1	-	4	2299	c.1152C>T	c.(1150-1152)ctC>ctT	p.L384L	TMEM246_ENST00000374847.1_Silent_p.L384L|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA|TMEM246_ENST00000374848.3_Silent_p.L384L|RP11-490D19.6_ENST00000450109.1_RNA			Q9BRR3	CI125_HUMAN	transmembrane protein 246	384						integral to membrane					NA						TGTGTTTCACGAGGTTCGGCT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	95	97			NA	NA	9		NA											NA				104238223		2203	4300	6503	SO:0001819	synonymous_variant			BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152	84302	84302			28180	protein-coding gene	gene with protein product			chromosome 9 open reading frame 125	C9orf125	NA	12477932	Standard	NM_032342	NM_032342	NA	Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.1152C>T	9.37:g.104238223G>A		NA	Q49AQ4	37	CCDS6757.1																																																																																			TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053444.1		-	ENST00000374851.1	Silent	SNP	9 : 104238223 - 104238223 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	406	68
SYTL5	94122	broad.mit.edu	37	X	37969635	37969635	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:37969635A>C	ENST00000357972.5	+	13	2042	c.1496A>C	c.(1495-1497)gAt>gCt	p.D499A	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.D499A|SYTL5_ENST00000456733.2_Missense_Mutation_p.D521A			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	499	C2 1.				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						TGGCACTATGATCGATTTGGA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	128	138			NA	NA	X		NA											NA				37969635		2202	4300	6502	SO:0001583	missense				CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041	94122	94122			15589	protein-coding gene	gene with protein product	exophilin 9				NA		Standard	NM_138780	NM_138780	NA	Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.1496A>C	X.37:g.37969635A>C	ENSP00000350657:p.Asp499Ala	NA		37	CCDS14244.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.565260	0.86439	.	.	ENSG00000147041	ENST00000297875;ENST00000357972;ENST00000456733	T;T;T	0.12984	2.63;2.63;2.63	5.79	5.79	0.91817	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.49029	0.1533	M	0.94021	3.485	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.97110	1.0;0.979	T	0.63088	-0.6715	10	0.87932	D	0	-8.2787	15.109	0.72340	1.0:0.0:0.0:0.0	.	521;499	A2RRF2;Q8TDW5	.;SYTL5_HUMAN	A	499;499;521	ENSP00000297875:D499A;ENSP00000350657:D499A;ENSP00000395220:D521A	ENSP00000297875:D499A	D	+	2	0	SYTL5	37854579	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.122000	0.77169	1.951000	0.56629	0.430000	0.28490	GAT	SYTL5-201	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080883.1		+	ENST00000357972.5	Missense_Mutation	SNP	X : 37969635 - 37969635 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	309	106
PDE4C	5143	broad.mit.edu	37	19	18332977	18332977	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18332977C>A	ENST00000355502.3	-	6	1270	c.399G>T	c.(397-399)aaG>aaT	p.K133N	PDE4C_ENST00000594465.3_Missense_Mutation_p.K133N|PDE4C_ENST00000447275.3_Missense_Mutation_p.K27N|PDE4C_ENST00000594617.3_Missense_Mutation_p.K133N|PDE4C_ENST00000262805.12_Missense_Mutation_p.K101N			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	133					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GAGACATGGCCTTGGGCGAGA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	57	60			NA	NA	19		NA											NA				18332977		2203	4300	6503	SO:0001583	missense				CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	5143	5143	3.1.4.17	Phosphodiesterases	8782	protein-coding gene	gene with protein product	phosphodiesterase E1 dunce homolog (Drosophila)	600128	phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)	DPDE1	NA		Standard		NM_001098818	NA	Approved		uc002nik.4	Q08493		ENST00000355502.3:c.399G>T	19.37:g.18332977C>A	ENSP00000347689:p.Lys133Asn	NA	B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	37	CCDS12373.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326528	0.41197	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000543547	T;T;T	0.75938	0.92;-0.98;-0.87	4.35	1.02	0.19986	.	3.522130	0.02252	U	0.066744	T	0.78941	0.4363	M	0.68593	2.085	0.80722	D	1	P;P;B	0.49696	0.563;0.927;0.24	B;P;B	0.49999	0.175;0.628;0.192	T	0.66842	-0.5821	10	0.87932	D	0	.	6.1161	0.20127	0.0:0.5024:0.0:0.4976	.	242;133;101	B7Z2S3;Q08493;Q08493-3	.;PDE4C_HUMAN;.	N	212;133;121;101;27;242	ENSP00000347689:K133N;ENSP00000262805:K101N;ENSP00000402091:K27N	ENSP00000262805:K101N	K	-	3	2	PDE4C	18193977	0.096000	0.21769	0.926000	0.36857	0.649000	0.38597	0.483000	0.22292	0.314000	0.23086	0.306000	0.20318	AAG	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466295.1		-	ENST00000355502.3	Missense_Mutation	SNP	19 : 18332977 - 18332977 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	252	50
ACAD11	84129	broad.mit.edu	37	3	132358437	132358437	+	Silent	SNP	G	G	A	rs144758147		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132358437G>A	ENST00000264990.6	-	5	1572	c.601C>T	c.(601-603)Cta>Tta	p.L201L	ACAD11_ENST00000355458.3_Silent_p.L201L|ACAD11_ENST00000481970.2_Silent_p.L201L|ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000545291.1_5'UTR	NM_032169.4	NP_115545			acyl-CoA dehydrogenase family, member 11	NA										breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						CACTCCGATAGCTGTTGCATG	0.388		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	85	82	83		601	4	0.6	3	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ACAD11	NM_032169.4		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		201/781	132358437	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303	84129	84129			30211	protein-coding gene	gene with protein product		614288	acyl-Coenzyme A dehydrogenase family, member 11		NA		Standard	NM_032169	NM_032169	NA	Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.601C>T	3.37:g.132358437G>A		NA		37	CCDS3074.1																																																																																			ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357279.2		-	ENST00000264990.6	Silent	SNP	3 : 132358437 - 132358437 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	52
CCHCR1	54535	broad.mit.edu	37	6	31118509	31118509	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31118509G>T	ENST00000396268.3	-	6	1282	c.1094C>A	c.(1093-1095)aCc>aAc	p.T365N	CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000396263.2_Missense_Mutation_p.T276N|CCHCR1_ENST00000451521.2_Missense_Mutation_p.T329N|CCHCR1_ENST00000376266.5_Missense_Mutation_p.T276N	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	276					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CACCTGCATGGTTTCCAGAAG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													260	236	244			NA	NA	6		NA											NA				31118509		1511	2709	4220	SO:0001583	missense			AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536	54535	54535			13930	protein-coding gene	gene with protein product		605310	chromosome 6 open reading frame 18	C6orf18	NA	10888604, 10545595	Standard	NM_019052	NM_019052	NA	Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000396268.3:c.1094C>A	6.37:g.31118509G>T	ENSP00000379566:p.Thr365Asn	NA	A2ABH6|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	37	CCDS43445.1	.	.	.	.	.	.	.	.	.	.	g	11.85	1.761136	0.31137	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521	T;T;T;T	0.04119	3.7;3.7;3.7;3.7	4.61	3.73	0.42828	.	0.292352	0.30244	N	0.010072	T	0.07098	0.0180	M	0.72118	2.19	0.21290	N	0.999733	D;D;D;D;D	0.67145	0.991;0.966;0.992;0.991;0.996	P;P;P;P;P	0.62740	0.898;0.773;0.906;0.898;0.892	T	0.20075	-1.0286	10	0.30854	T	0.27	-5.6321	10.5851	0.45278	0.0:0.0:0.8099:0.1901	.	276;276;276;329;365	B4DIA2;A8K081;Q8TD31;E9PE84;Q8TD31-2	.;.;CCHCR_HUMAN;.;.	N	365;276;276;276;329	ENSP00000379566:T365N;ENSP00000365442:T276N;ENSP00000379561:T276N;ENSP00000401039:T329N	ENSP00000365442:T276N	T	-	2	0	CCHCR1	31226488	0.060000	0.20803	0.615000	0.29064	0.089000	0.18198	1.653000	0.37323	0.950000	0.37743	-2.180000	0.00316	ACC	CCHCR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257971.2		-	ENST00000396268.3	Missense_Mutation	SNP	6 : 31118509 - 31118509 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1329	278
NCKAP5	344148	broad.mit.edu	37	2	133542171	133542171	+	Missense_Mutation	SNP	T	T	C	rs146403790	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133542171T>C	ENST00000409261.1	-	14	2586	c.2213A>G	c.(2212-2214)gAc>gGc	p.D738G	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.D738G|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	738							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTTCTCAGTGTCCTCTTCAGA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	64	65			NA	NA	2		NA											NA				133542171		1848	4118	5966	SO:0001583	missense			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771	344148	344148			29847	protein-coding gene	gene with protein product	Nck associated protein 5, peripheral clock protein	608789			NA	9344857	Standard	NM_207481	NM_207363	NA	Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.2213A>G	2.37:g.133542171T>C	ENSP00000387128:p.Asp738Gly	NA	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	37	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	t	10.92	1.488547	0.26686	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.41400	1.0;1.0	5.2	4.05	0.47172	.	0.384947	0.18415	U	0.141921	T	0.21674	0.0522	N	0.08118	0	0.20074	N	0.999938	B	0.09022	0.002	B	0.06405	0.002	T	0.13176	-1.0519	10	0.38643	T	0.18	.	7.783	0.29077	0.0:0.1607:0.0:0.8393	.	738	O14513	NCKP5_HUMAN	G	738	ENSP00000387128:D738G;ENSP00000380603:D738G	ENSP00000380603:D738G	D	-	2	0	NCKAP5	133258641	0.966000	0.33281	0.285000	0.24819	0.962000	0.63368	1.727000	0.38095	1.017000	0.39495	0.529000	0.55759	GAC	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331663.1		-	ENST00000409261.1	Missense_Mutation	SNP	2 : 133542171 - 133542171 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	338	17
ARHGAP31	57514	broad.mit.edu	37	3	119084190	119084190	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119084190A>C	ENST00000264245.4	+	2	660	c.128A>C	c.(127-129)gAa>gCa	p.E43A		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	43	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGCTGTGCAGAATTTATAGAG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(7;176 297 5394 51128 51241)							NA				0													99	89	92			NA	NA	3		NA											NA				119084190		1855	4127	5982	SO:0001583	missense				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081	57514	57514		Rho GTPase activating proteins	29216	protein-coding gene	gene with protein product		610911			NA	9786927, 12819203, 16519628	Standard		NM_020754	NA	Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.128A>C	3.37:g.119084190A>C	ENSP00000264245:p.Glu43Ala	NA	Q9ULL6	37	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.787608	0.49997	.	.	ENSG00000031081	ENST00000264245;ENST00000543280;ENST00000482743	T;T	0.20200	2.09;2.09	5.65	5.65	0.86999	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.070936	0.53938	D	0.000057	T	0.33876	0.0878	L	0.52126	1.63	0.80722	D	1	P	0.37083	0.581	P	0.49502	0.613	T	0.03212	-1.1060	10	0.51188	T	0.08	.	14.8532	0.70313	1.0:0.0:0.0:0.0	.	43	Q2M1Z3	RHG31_HUMAN	A	43;43;14	ENSP00000264245:E43A;ENSP00000418429:E14A	ENSP00000264245:E43A	E	+	2	0	ARHGAP31	120566880	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.139000	0.94554	2.371000	0.80710	0.533000	0.62120	GAA	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354942.2		+	ENST00000264245.4	Missense_Mutation	SNP	3 : 119084190 - 119084190 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	345	63
CAPZA3	93661	broad.mit.edu	37	12	18891240	18891240	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:18891240G>T	ENST00000317658.3	+	1	196	c.38G>T	c.(37-39)aGa>aTa	p.R13I		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	13					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GACAAGGAAAGAGTAATTCGC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938	93661	93661			24205	protein-coding gene	gene with protein product		608722			NA	12029070	Standard	NM_033328	NM_033328	NA	Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.38G>T	12.37:g.18891240G>T	ENSP00000326238:p.Arg13Ile	NA	Q969J0	37	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	G	9.462	1.093371	0.20471	.	.	ENSG00000177938	ENST00000317658	.	.	.	5.07	-7.43	0.01383	.	0.512970	0.18368	N	0.143357	T	0.54983	0.1892	M	0.68952	2.095	0.37809	D	0.92797	B	0.32425	0.371	B	0.32677	0.15	T	0.51364	-0.8715	9	0.87932	D	0	-1.1445	15.5084	0.75760	0.7512:0.0:0.2488:0.0	.	13	Q96KX2	CAZA3_HUMAN	I	13	.	ENSP00000326238:R13I	R	+	2	0	CAPZA3	18782507	0.000000	0.05858	0.587000	0.28692	0.476000	0.33039	-2.225000	0.01212	-1.571000	0.01663	-1.008000	0.02478	AGA	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401902.1		+	ENST00000317658.3	Missense_Mutation	SNP	12 : 18891240 - 18891240 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	443	20
NCK1	4690	broad.mit.edu	37	3	136664506	136664506	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136664506G>A	ENST00000469404.1	+	2	207	c.116G>A	c.(115-117)cGt>cAt	p.R39H	NCK1_ENST00000481752.1_Missense_Mutation_p.R103H|NCK1_ENST00000288986.2_Missense_Mutation_p.R103H	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN	NCK adaptor protein 1	103	SH3 1.				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						CCAGGGGAACGTCTCTATGAC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	121	121			NA	NA	3		NA											NA				136664506		2203	4300	6503	SO:0001583	missense			X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092	4690	4690		SH2 domain containing	7664	protein-coding gene	gene with protein product		600508		NCK	NA	7806213, 9737977	Standard	NM_006153	XM_005247498	NA	Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	ENST00000469404.1:c.116G>A	3.37:g.136664506G>A	ENSP00000419631:p.Arg39His	NA	D3DNE3	37	CCDS54644.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.34|19.34	3.808386|3.808386	0.70797|0.70797	.|.	.|.	ENSG00000158092|ENSG00000158092	ENST00000288986;ENST00000481752;ENST00000491539;ENST00000485096;ENST00000488930;ENST00000469404;ENST00000467911|ENST00000496489	T;T;T;T;T;T;T|.	0.69306|.	-0.34;-0.34;1.3;1.09;2.29;-0.39;2.29|.	6.16|6.16	6.16|6.16	0.99307|0.99307	Src homology-3 domain (1);|.	0.055856|.	0.64402|.	D|.	0.000001|.	T|T	0.75019|0.75019	0.3793|0.3793	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	D;P|.	0.89917|.	1.0;0.915|.	D;B|.	0.72625|.	0.978;0.21|.	T|T	0.71646|0.71646	-0.4530|-0.4530	10|5	0.21014|.	T|.	0.42|.	-23.5168|-23.5168	18.3537|18.3537	0.90348|0.90348	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	39;103|.	B7Z751;P16333|.	.;NCK1_HUMAN|.	H|I	103;103;103;103;103;39;39|91	ENSP00000288986:R103H;ENSP00000417273:R103H;ENSP00000419302:R103H;ENSP00000419677:R103H;ENSP00000417729:R103H;ENSP00000419631:R39H;ENSP00000418060:R39H|.	ENSP00000288986:R103H|.	R|V	+|+	2|1	0|0	NCK1|NCK1	138147196|138147196	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.367000|9.367000	0.97148|0.97148	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CGT|GTC	NCK1-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357287.1		+	ENST00000469404.1	Missense_Mutation	SNP	3 : 136664506 - 136664506 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	520	34
EXT2	2132	broad.mit.edu	37	11	44253909	44253909	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44253909C>T	ENST00000343631.3	+	11	1798	c.1669C>T	c.(1669-1671)Cgg>Tgg	p.R557W	EXT2_ENST00000533608.1_Missense_Mutation_p.R557W|EXT2_ENST00000358681.4_Missense_Mutation_p.R567W|EXT2_ENST00000395673.3_Missense_Mutation_p.R590W			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	557					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TTAGGTCTGGCGGGAATTTCC	0.473		NA	Mis, N, F, S			exostoses, osteosarcoma			Hereditary Multiple Exostoses					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	multiple exostoses type 2 gene		M	0			GRCh37	CD010608	EXT2	D							129	115	120			NA	NA	11		NA											NA				44253909		2203	4299	6502	SO:0001583	missense	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2132	2132	2.4.1.224, 2.4.1.225	Exostosin glycosyltransferase family	3513	protein-coding gene	gene with protein product	Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase, N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase	608210	exostoses (multiple) 2, exostosin 2		NA	8162019, 9576285	Standard	NM_000401	NM_000401	NA	Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.1669C>T	11.37:g.44253909C>T	ENSP00000342656:p.Arg557Trp	NA	B2R5Z6|O15288	37	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002631	0.74932	.	.	ENSG00000151348	ENST00000533608;ENST00000358681;ENST00000395673;ENST00000343631	D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24	5.08	4.14	0.48551	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.94348	0.8183	M	0.91300	3.195	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.998;0.999;0.997	D	0.94999	0.8141	10	0.87932	D	0	-6.3232	13.2204	0.59883	0.2891:0.7108:0.0:0.0	.	557;567;567;557;570	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	W	557;567;590;557	ENSP00000431173:R557W;ENSP00000351509:R567W;ENSP00000379032:R590W;ENSP00000342656:R557W	ENSP00000342656:R557W	R	+	1	2	EXT2	44210485	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.843000	0.62838	1.093000	0.41377	0.591000	0.81541	CGG	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390074.1		+	ENST00000343631.3	Missense_Mutation	SNP	11 : 44253909 - 44253909 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	339	61
SNED1	25992	broad.mit.edu	37	2	241988103	241988103	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241988103G>A	ENST00000310397.8	+	10	1424	c.1424G>A	c.(1423-1425)cGc>cAc	p.R475H	SNED1_ENST00000405547.3_Missense_Mutation_p.R475H|SNED1_ENST00000401884.1_Missense_Mutation_p.R475H|SNED1_ENST00000342631.6_Missense_Mutation_p.R475H|SNED1_ENST00000469006.1_3'UTR|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	475	EGF-like 6.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TGTGAGTGCCGCAACGGAGGC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	55	52			NA	NA	2		NA											NA				241988103		2065	4204	6269	SO:0001583	missense			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804	25992	25992		Fibronectin type III domain containing	24696	protein-coding gene	gene with protein product					NA	12477932	Standard	XM_059482	NM_001080437	NA	Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.1424G>A	2.37:g.241988103G>A	ENSP00000308893:p.Arg475His	NA	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	37	CCDS46562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.74|14.74	2.626007|2.626007	0.46840|0.46840	.|.	.|.	ENSG00000162804|ENSG00000162804	ENST00000431690|ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	.|T;T;T;T	.|0.63255	.|-0.03;-0.03;-0.03;-0.03	4.81|4.81	3.01|3.01	0.34805|0.34805	.|Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.|0.000000	.|0.56097	.|D	.|0.000038	T|T	0.74344|0.74344	0.3704|0.3704	M|M	0.78801|0.78801	2.425|2.425	0.33775|0.33775	D|D	0.623493|0.623493	.|D	.|0.89917	.|1.0	.|D	.|0.73380	.|0.98	T|T	0.76984|0.76984	-0.2756|-0.2756	5|10	.|0.20046	.|T	.|0.44	.|.	10.5754|10.5754	0.45225|0.45225	0.16:0.0:0.84:0.0|0.16:0.0:0.84:0.0	.|.	.|475	.|Q8TER0	.|SNED1_HUMAN	T|H	133|475	.|ENSP00000384871:R475H;ENSP00000386007:R475H;ENSP00000308893:R475H;ENSP00000342992:R475H	.|ENSP00000308893:R475H	A|R	+|+	1|2	0|0	SNED1|SNED1	241636776|241636776	0.913000|0.913000	0.31002|0.31002	0.525000|0.525000	0.27900|0.27900	0.212000|0.212000	0.24457|0.24457	1.302000|1.302000	0.33459|0.33459	0.455000|0.455000	0.26910|0.26910	0.563000|0.563000	0.77884|0.77884	GCA|CGC	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323935.2		+	ENST00000310397.8	Missense_Mutation	SNP	2 : 241988103 - 241988103 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	127	33
WDFY3	23001	broad.mit.edu	37	4	85605150	85605150	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85605150G>A	ENST00000295888.4	-	63	10079	c.9672C>T	c.(9670-9672)aaC>aaT	p.N3224N	WDFY3_ENST00000322366.6_Silent_p.N3207N	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3224						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGTCCCATTCGTTCATCTCCG	0.478		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	142	121	128		9672	-1.6	1	4		128	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	WDFY3	NM_014991.4		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		3224/3527	85605150	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625	23001	23001		Zinc fingers, FYVE domain containing, WD repeat domain containing	20751	protein-coding gene	gene with protein product					NA	10231032	Standard	NM_014991	NM_014991	NA	Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.9672C>T	4.37:g.85605150G>A		NA	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	37	CCDS3609.1																																																																																			WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252811.2		-	ENST00000295888.4	Silent	SNP	4 : 85605150 - 85605150 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	401	79
CREB3L4	148327	broad.mit.edu	37	1	153945234	153945234	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153945234C>T	ENST00000368607.3	+	5	824	c.558C>T	c.(556-558)acC>acT	p.T186T	CREB3L4_ENST00000271889.4_Silent_p.T186T|CREB3L4_ENST00000368600.3_Silent_p.T166T|CREB3L4_ENST00000468845.1_3'UTR|CREB3L4_ENST00000405694.3_Silent_p.T39T|CREB3L4_ENST00000368601.1_Silent_p.T186T|CREB3L4_ENST00000368603.1_Silent_p.T186T	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	186					response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCTGTCAAACCCTGTTCCTGA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	52	53			NA	NA	1		NA											NA				153945234		2203	4300	6503	SO:0001819	synonymous_variant			AF394167	CCDS1056.1, CCDS58029.1	1q21.2	2013-01-10			ENSG00000143578	ENSG00000143578	148327	148327		basic leucine zipper proteins	18854	protein-coding gene	gene with protein product		607138			NA		Standard	NM_130898	NM_130898	NA	Approved	AIbZIP, CREB4, CREB3, hJAL, ATCE1	uc001fdr.3	Q8TEY5	OTTHUMG00000037159	ENST00000368607.3:c.558C>T	1.37:g.153945234C>T		NA	D3DV62|Q86YW6	37	CCDS1056.1																																																																																			CREB3L4-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090291.1		+	ENST00000368607.3	Silent	SNP	1 : 153945234 - 153945234 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	239	47
SEC31A	22872	broad.mit.edu	37	4	83793168	83793168	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83793168C>T	ENST00000395310.2	-	7	893	c.711G>A	c.(709-711)cgG>cgA	p.R237R	SEC31A_ENST00000348405.4_Silent_p.R237R|SEC31A_ENST00000505984.1_Silent_p.R237R|SEC31A_ENST00000509142.1_Silent_p.R237R|SEC31A_ENST00000443462.2_Silent_p.R232R|SEC31A_ENST00000513858.1_Silent_p.R237R|SEC31A_ENST00000311785.7_Silent_p.R237R|SEC31A_ENST00000326950.5_Silent_p.R237R|SEC31A_ENST00000355196.2_Silent_p.R237R|SEC31A_ENST00000508479.1_Silent_p.R237R|SEC31A_ENST00000505472.1_Silent_p.R237R|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000432794.1_Silent_p.R237R|SEC31A_ENST00000500777.2_Silent_p.R237R|SEC31A_ENST00000508502.1_Silent_p.R237R|SEC31A_ENST00000448323.1_Silent_p.R237R	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	237	Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TCACTGGTAACCGGTCATCCT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	95	104			NA	NA	4		NA											NA				83793168		2203	4300	6503	SO:0001819	synonymous_variant			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674	22872	22872		WD repeat domain containing	17052	protein-coding gene	gene with protein product		610257	SEC31-like 1 (S. cerevisiae), Sec31 homolog A (S. cerevisiae)	SEC31L1	NA	10048485, 10788476	Standard	NM_016211	NM_001077206	NA	Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.711G>A	4.37:g.83793168C>T		NA	B7ZKZ7|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	37	CCDS3596.1																																																																																			SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252640.1		-	ENST00000395310.2	Silent	SNP	4 : 83793168 - 83793168 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	279	52
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42135893	42135893	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42135893C>T	ENST00000342159.4	+	16	1464	c.1456C>T	c.(1456-1458)Cga>Tga	p.R486*	PLA2G4B_ENST00000452633.1_Nonsense_Mutation_p.R255*|JMJD7-PLA2G4B_ENST00000382448.4_Nonsense_Mutation_p.R486*|PLA2G4B_ENST00000458483.1_Nonsense_Mutation_p.R255*|PLA2G4B_ENST00000542534.2_Nonsense_Mutation_p.R486*	NM_001198588.1	NP_001185517.1	P0C869	PA24B_HUMAN	JMJD7-PLA2G4B readthrough	255	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						GCTGGCCGTGCGACTGGGCTT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	stop/ARG,stop/ARG,stop/ARG	1,4405		0,1,2202	37	36	36		763,1456,1456	5.2	1	15		36	2,8598		0,2,4298	yes	stop-gained,stop-gained,stop-gained	JMJD7-PLA2G4B,PLA2G4B	NM_001114633.1,NM_001198588.1,NM_005090.3	,,	0,3,6500	TT,TC,CC	NA	0.0233,0.0227,0.0231	,,	255/782,486/894,486/1013	42135893	3,13003	2203	4300	6503	SO:0001587	stop_gained				CCDS32202.1, CCDS55961.1	15q11.2-q21.3	2010-08-17			ENSG00000168970	ENSG00000168970	8681	8681			34449	other	readthrough					NA		Standard		NM_005090	NA	Approved		uc001zoo.4		OTTHUMG00000044442	ENST00000342159.4:c.1456C>T	15.37:g.42135893C>T	ENSP00000342785:p.Arg486*	NA	B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	37	CCDS55961.1	.	.	.	.	.	.	.	.	.	.	.	37	6.069963	0.97256	2.27E-4	2.33E-4	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	.	.	.	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9013	17.7747	0.88503	0.0:1.0:0.0:0.0	.	.	.	.	X	486;486;255;255	.	ENSP00000342785:R486X	R	+	1	2	JMJD7-PLA2G4B;PLA2G4B	39923185	1.000000	0.71417	1.000000	0.80357	0.210000	0.24377	3.545000	0.53648	2.573000	0.86826	0.655000	0.94253	CGA	JMJD7-PLA2G4B-002	NOVEL	basic|readthrough_transcript|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326088.1		+	ENST00000342159.4	Nonsense_Mutation	SNP	15 : 42135893 - 42135893 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	335	69
STRIP2	57464	broad.mit.edu	37	7	129100202	129100202	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:129100202C>T	ENST00000249344.2	+	13	1505	c.1465C>T	c.(1465-1467)Cct>Tct	p.P489S	STRIP2_ENST00000435494.2_Missense_Mutation_p.P489S	NM_020704.2	NP_065755.1			striatin interacting protein 2	NA											NA						GGAGAAGTGCCCTATGTCTTT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	84	88			NA	NA	7		NA											NA				129100202		2203	4300	6503	SO:0001583	missense			AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578	57464	57464			22209	protein-coding gene	gene with protein product	FAR11 factor arrest 11 homolog B (yeast)		family with sequence similarity 40, member B	FAM40B	NA	22782902, 22298706, 18782753	Standard	NM_001134336	NM_020704	NA	Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.1465C>T	7.37:g.129100202C>T	ENSP00000249344:p.Pro489Ser	NA		37	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031588	0.75504	.	.	ENSG00000128578	ENST00000249344;ENST00000435494;ENST00000450266	T;T	0.49139	0.8;0.79	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.71367	0.3331	M	0.81179	2.53	0.80722	D	1	D;P	0.89917	1.0;0.799	D;P	0.91635	0.999;0.477	T	0.72218	-0.4357	10	0.45353	T	0.12	-20.921	18.3508	0.90338	0.0:1.0:0.0:0.0	.	489;489	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	S	489;489;160	ENSP00000249344:P489S;ENSP00000392393:P489S	ENSP00000249344:P489S	P	+	1	0	FAM40B	128887438	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.646000	0.67916	2.550000	0.86006	0.591000	0.81541	CCT	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349418.1		+	ENST00000249344.2	Missense_Mutation	SNP	7 : 129100202 - 129100202 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	114	25
LRRTM3	347731	broad.mit.edu	37	10	68686696	68686696	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:68686696C>T	ENST00000361320.4	+	2	600	c.22C>T	c.(22-24)Cta>Tta	p.L8L	CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	8						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TGTAATTAGGCTACTGAGCGG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	59	61			NA	NA	10		NA											NA				68686696		2203	4300	6503	SO:0001819	synonymous_variant			BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739	347731	347731			19410	protein-coding gene	gene with protein product		610869			NA	12676565	Standard	NM_178011	XR_247527	NA	Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.22C>T	10.37:g.68686696C>T		NA	A8K2A3|Q2NKX7|Q6N0A3	37	CCDS7270.1																																																																																			LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048277.2		+	ENST00000361320.4	Silent	SNP	10 : 68686696 - 68686696 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	240	53
SEPT5	5413	broad.mit.edu	37	22	19707735	19707735	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19707735C>T	ENST00000438754.2	+	4	643	c.363C>T	c.(361-363)ttC>ttT	p.F121F	SEPT5_ENST00000455784.2_Silent_p.F112F|SEPT5_ENST00000383045.3_Silent_p.F121F|SEPT5_ENST00000406395.1_Silent_p.F112F	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN	septin 5	112					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CGCCGGGATTCGGGGACGCTG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	91	97			NA	NA	22		NA											NA				19707735		2202	4300	6502	SO:0001819	synonymous_variant			Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702	5413	5413		Septins	9164	protein-coding gene	gene with protein product		602724	peanut-like 1 (Drosophila)	PNUTL1	NA	9385360, 9611266	Standard	NM_002688	NM_002688	NA	Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000438754.2:c.363C>T	22.37:g.19707735C>T		NA	O15251	37	CCDS56224.1	.	.	.	.	.	.	.	.	.	.	C	3.617	-0.078448	0.07184	.	.	ENSG00000184702	ENST00000413258	.	.	.	3.89	-1.62	0.08372	.	.	.	.	.	T	0.54598	0.1868	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50939	-0.8768	4	.	.	.	.	9.162	0.37028	0.0:0.2228:0.0:0.7772	.	.	.	.	W	9	.	.	R	+	1	2	SEPT5	18087735	0.199000	0.23386	0.544000	0.28141	0.106000	0.19336	-0.505000	0.06367	-0.093000	0.12396	0.455000	0.32223	CGG	SEPT5-002	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317938.5		+	ENST00000438754.2	Silent	SNP	22 : 19707735 - 19707735 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	221	33
NAP1L2	4674	broad.mit.edu	37	X	72434219	72434219	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:72434219G>A	ENST00000373517.3	-	1	465	c.110C>T	c.(109-111)gCc>gTc	p.A37V	NAP1L2_ENST00000536638.1_Intron	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	37					nucleosome assembly	chromatin assembly complex		p.A37V(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CCCAGCAGCGGCATCTTCACC	0.577		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)											55	51	52			NA	NA	X		NA											NA				72434219		2203	4300	6503	SO:0001583	missense			AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462	4674	4674			7638	protein-coding gene	gene with protein product		300026			NA	8789438	Standard	NM_021963	NM_021963	NA	Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.110C>T	X.37:g.72434219G>A	ENSP00000362616:p.Ala37Val	NA	B2RE61|Q8TAN6	37	CCDS14423.1	.	.	.	.	.	.	.	.	.	.	g	0.254	-1.004577	0.02112	.	.	ENSG00000186462	ENST00000373517	D	0.91631	-2.88	3.1	1.25	0.21368	.	0.493565	0.19867	N	0.104294	T	0.77384	0.4122	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.61907	-0.6966	10	0.12766	T	0.61	0.241	4.486	0.11790	0.347:0.0:0.653:0.0	.	37	Q9ULW6	NP1L2_HUMAN	V	37	ENSP00000362616:A37V	ENSP00000362616:A37V	A	-	2	0	NAP1L2	72350944	0.686000	0.27661	0.001000	0.08648	0.199000	0.23934	0.186000	0.16978	0.187000	0.20147	0.600000	0.82982	GCC	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057225.1		-	ENST00000373517.3	Missense_Mutation	SNP	X : 72434219 - 72434219 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	281	81
MRPL48	51642	broad.mit.edu	37	11	73571043	73571043	+	Nonsense_Mutation	SNP	C	C	T	rs137907774	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73571043C>T	ENST00000411840.2	+	8	793	c.166C>T	c.(166-168)Cga>Tga	p.R56*	MRPL48_ENST00000542303.1_Intron|MRPL48_ENST00000398483.3_Nonsense_Mutation_p.R56*|MRPL48_ENST00000535529.1_Nonsense_Mutation_p.R137*|MRPL48_ENST00000310614.7_Nonsense_Mutation_p.R155*|MRPL48_ENST00000314282.7_Nonsense_Mutation_p.R56*			Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48	155					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			kidney(1)	1						CACCCATGAGCGAGTGGTTCA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	57	58			NA	NA	11		NA											NA				73571043		1899	4126	6025	SO:0001587	stop_gained			AF151876	CCDS44676.1	11q13.4	2012-09-13			ENSG00000175581	ENSG00000175581	51642	51642		Mitochondrial ribosomal proteins / large subunits	16653	protein-coding gene	gene with protein product		611853			NA	10810093	Standard	NM_016055	NM_016055	NA	Approved	CGI-118	uc001ouh.4	Q96GC5	OTTHUMG00000168048	ENST00000411840.2:c.166C>T	11.37:g.73571043C>T	ENSP00000399076:p.Arg56*	NA	Q49AK7|Q4U2Q4|Q9P091|Q9Y5J0	37		.	.	.	.	.	.	.	.	.	.	C	41	8.561256	0.98863	.	.	ENSG00000175581	ENST00000310614;ENST00000535529;ENST00000411840;ENST00000398483;ENST00000314282	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.0739	12.9338	0.58303	0.1619:0.8381:0.0:0.0	rs11547693	.	.	.	X	155;137;56;56;56	.	ENSP00000308717:R155X	R	+	1	2	MRPL48	73248691	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.776000	0.38594	2.937000	0.99478	0.650000	0.86243	CGA	MRPL48-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000397739.1		+	ENST00000411840.2	Nonsense_Mutation	SNP	11 : 73571043 - 73571043 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	133	24
ABCA8	10351	broad.mit.edu	37	17	66864494	66864494	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66864494T>G	ENST00000269080.2	-	37	4732	c.4595A>C	c.(4594-4596)aAa>aCa	p.K1532T	ABCA8_ENST00000430352.2_Missense_Mutation_p.K1572T|ABCA8_ENST00000586539.1_Missense_Mutation_p.K1572T	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1532						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AAAGCTCTGTTTAACTGCATA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	96	97			NA	NA	17		NA											NA				66864494		2203	4300	6503	SO:0001583	missense			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338	10351	10351		ATP binding cassette transporters / subfamily A	38	protein-coding gene	gene with protein product		612505			NA		Standard	NM_007168	XM_005256938	NA	Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.4595A>C	17.37:g.66864494T>G	ENSP00000269080:p.Lys1532Thr	NA	Q86WW0	37	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	T	16.90	3.250391	0.59212	.	.	ENSG00000141338	ENST00000269080;ENST00000430352	D;D	0.81739	-1.53;-1.53	4.6	3.52	0.40303	.	0.000000	0.52532	D	0.000065	D	0.92031	0.7475	H	0.97440	4.005	0.40588	D	0.981466	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.998	D	0.91842	0.5484	10	0.87932	D	0	.	8.1627	0.31209	0.0:0.0918:0.0:0.9082	.	1572;1572;1532	A1L3U3;C9JQE6;O94911	.;.;ABCA8_HUMAN	T	1532;1572	ENSP00000269080:K1532T;ENSP00000402814:K1572T	ENSP00000269080:K1532T	K	-	2	0	ABCA8	64376089	1.000000	0.71417	0.986000	0.45419	0.598000	0.36846	5.297000	0.65704	0.900000	0.36469	0.533000	0.62120	AAA	ABCA8-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450172.1		-	ENST00000269080.2	Missense_Mutation	SNP	17 : 66864494 - 66864494 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	249	56
ERC2	26059	broad.mit.edu	37	3	56044551	56044551	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:56044551C>T	ENST00000288221.6	-	9	2101	c.1846G>A	c.(1846-1848)Gaa>Aaa	p.E616K		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	616						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CGGAAGGATTCTATCTCTTCT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													244	225	231			NA	NA	3		NA											NA				56044551		1858	4099	5957	SO:0001583	missense			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672	26059	26059			31922	protein-coding gene	gene with protein product					NA		Standard	NM_015576	NM_015576	NA	Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.1846G>A	3.37:g.56044551C>T	ENSP00000288221:p.Glu616Lys	NA	Q2T9F6|Q86TK4	37	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430625	0.83776	.	.	ENSG00000187672	ENST00000288221	T	0.50001	0.76	6.02	5.14	0.70334	.	0.094954	0.64402	D	0.000001	T	0.42810	0.1219	L	0.44542	1.39	0.48571	D	0.999677	B	0.26708	0.157	B	0.25140	0.058	T	0.22977	-1.0201	10	0.33940	T	0.23	-21.3003	16.7283	0.85429	0.1304:0.8695:0.0:0.0	.	616	O15083	ERC2_HUMAN	K	616	ENSP00000288221:E616K	ENSP00000288221:E616K	E	-	1	0	ERC2	56019591	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	1.548000	0.49413	0.655000	0.94253	GAA	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350884.2		-	ENST00000288221.6	Missense_Mutation	SNP	3 : 56044551 - 56044551 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	581	104
CENPE	1062	broad.mit.edu	37	4	104074400	104074400	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:104074400C>T	ENST00000380026.3	-	24	3054	c.2966G>A	c.(2965-2967)gGc>gAc	p.G989D	CENPE_ENST00000265148.3_Missense_Mutation_p.G1014D			Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1014					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTTATCTATGCCAACCATCTA	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	84	85			NA	NA	4		NA											NA				104074400		2203	4298	6501	SO:0001583	missense			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778	1062	1062		Kinesins, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	1856	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 61	117143	centromere protein E (312kD)		NA	7851898	Standard		NM_001286734	NA	Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000380026.3:c.2966G>A	4.37:g.104074400C>T	ENSP00000369365:p.Gly989Asp	NA	A6NKY9|A8K2U7|Q4LE75	37		.	.	.	.	.	.	.	.	.	.	C	1.807	-0.475696	0.04414	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	D;D;D	0.93426	-3.22;-3.22;-3.22	4.08	-8.11	0.01082	.	.	.	.	.	D	0.83797	0.5332	L	0.31294	0.92	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.70447	-0.4869	9	0.06625	T	0.88	.	10.9198	0.47158	0.0:0.1096:0.1993:0.6911	.	989;1014	Q02224-3;Q02224	.;CENPE_HUMAN	D	1014;1014;989;1014	ENSP00000265148:G1014D;ENSP00000369365:G989D;ENSP00000423981:G1014D	ENSP00000265148:G1014D	G	-	2	0	CENPE	104293849	0.000000	0.05858	0.001000	0.08648	0.218000	0.24690	-3.588000	0.00422	-2.091000	0.00858	-1.051000	0.02340	GGC	CENPE-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000363246.2		-	ENST00000380026.3	Missense_Mutation	SNP	4 : 104074400 - 104074400 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	203	27
ABCA6	23460	broad.mit.edu	37	17	67109448	67109448	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67109448T>G	ENST00000284425.2	-	15	2130	c.1956A>C	c.(1954-1956)caA>caC	p.Q652H		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	652	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GGCTCCACACTTGATCTCTGG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	76	77			NA	NA	17		NA											NA				67109448		2203	4300	6503	SO:0001583	missense			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262	23460	23460		ATP binding cassette transporters / subfamily A	36	protein-coding gene	gene with protein product		612504			NA	8894702	Standard	NM_080284	NM_080284	NA	Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.1956A>C	17.37:g.67109448T>G	ENSP00000284425:p.Gln652His	NA	Q6NSH9|Q8N856|Q8WWZ6	37	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	T	4.388	0.071542	0.08436	.	.	ENSG00000154262	ENST00000284425	D	0.93763	-3.28	4.93	3.85	0.44370	ATPase, AAA+ type, core (1);ABC transporter-like (1);	1.061280	0.07388	N	0.888512	D	0.87977	0.6314	L	0.31804	0.96	0.80722	D	1	B	0.09022	0.002	B	0.12837	0.008	T	0.77464	-0.2578	10	0.27082	T	0.32	.	6.0	0.19515	0.0:0.0892:0.2722:0.6386	.	652	Q8N139	ABCA6_HUMAN	H	652	ENSP00000284425:Q652H	ENSP00000284425:Q652H	Q	-	3	2	ABCA6	64621043	0.001000	0.12720	0.024000	0.17045	0.088000	0.18126	-0.164000	0.09983	1.015000	0.39444	0.523000	0.50628	CAA	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450463.1		-	ENST00000284425.2	Missense_Mutation	SNP	17 : 67109448 - 67109448 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	54
CAPN5	726	broad.mit.edu	37	11	76814037	76814037	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76814037C>A	ENST00000456580.2	+	4	554				CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000529629.1_Intron|OMP_ENST00000529803.1_Missense_Mutation_p.S51Y			O15484	CAN5_HUMAN	calpain 5	NA					proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CCAGCGGAGTCTGTGTACCGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	53	49			NA	NA	11		NA											NA				76814037		2156	4259	6415	SO:0001627	intron_variant				CCDS8248.1	11q14	2014-01-29				ENSG00000149260	726	726			1482	protein-coding gene	gene with protein product		602537	vitreoretinopathy, neovascular inflammatory	VRNI	NA	9503024, 9367857, 23055945	Standard	NM_004055	NM_004055	NA	Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000456580.2:c.417+9178C>A	11.37:g.76814037C>A		NA	O00263	37		.	.	.	.	.	.	.	.	.	.	C	0.009	-1.858095	0.00558	.	.	ENSG00000254550	ENST00000529803	T	0.31510	1.49	5.12	0.87	0.19102	.	.	.	.	.	T	0.11623	0.0283	N	0.12182	0.205	0.25256	N	0.98963	B	0.10296	0.003	B	0.13407	0.009	T	0.35176	-0.9799	9	0.02654	T	1	.	3.0411	0.06139	0.3394:0.3208:0.0:0.3398	.	51	P47874	OMP_HUMAN	Y	51	ENSP00000436376:S51Y	ENSP00000436376:S51Y	S	+	2	0	OMP	76491685	0.005000	0.15991	0.993000	0.49108	0.089000	0.18198	0.288000	0.18939	0.330000	0.23485	0.462000	0.41574	TCT	CAPN5-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000382568.1		+	ENST00000456580.2	Intron	SNP	11 : 76814037 - 76814037 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	239	69
SETD5	55209	broad.mit.edu	37	3	9514972	9514972	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9514972C>A	ENST00000406341.1	+	19	3438	c.3248C>A	c.(3247-3249)gCt>gAt	p.A1083D	SETD5_ENST00000302463.6_Missense_Mutation_p.A985D|SETD5_ENST00000407969.1_Missense_Mutation_p.A1102D|SETD5_ENST00000402466.1_Missense_Mutation_p.A985D|SETD5_ENST00000402198.1_Missense_Mutation_p.A1083D			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1083										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GAAAATTCTGCTGGTGGGGGA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	54	53			NA	NA	3		NA											NA				9514972		1984	4155	6139	SO:0001583	missense			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137	55209	55209			25566	protein-coding gene	gene with protein product		615743			NA	11214970	Standard	XM_371614	XM_005265299	NA	Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.3248C>A	3.37:g.9514972C>A	ENSP00000383939:p.Ala1083Asp	NA	Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	37	CCDS46741.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.44|12.44	1.937907|1.937907	0.34189|0.34189	.|.	.|.	ENSG00000168137|ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463|ENST00000399686;ENST00000421188	D;D;D;D;D|.	0.91792|.	-2.59;-2.91;-2.59;-2.59;-2.91|.	3.96|3.96	0.297|0.297	0.15762|0.15762	.|.	1.176010|.	0.06525|.	N|.	0.740437|.	T|.	0.15955|.	0.0384|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	P;B;B|.	0.36535|.	0.557;0.403;0.032|.	B;B;B|.	0.30572|.	0.117;0.083;0.011|.	T|.	0.28618|.	-1.0038|.	10|.	0.72032|.	D|.	0.01|.	0.0521|0.0521	5.9021|5.9021	0.18972|0.18972	0.0:0.6:0.1671:0.2328|0.0:0.6:0.1671:0.2328	.|.	752;985;1083|.	B3KXG4;Q9C0A6-3;Q9C0A6|.	.;.;SETD5_HUMAN|.	D|X	1083;985;1083;1102;985|750;413	ENSP00000385852:A1083D;ENSP00000384429:A985D;ENSP00000383939:A1083D;ENSP00000384114:A1102D;ENSP00000302028:A985D|.	ENSP00000302028:A985D|.	A|C	+|+	2|3	0|2	SETD5|SETD5	9489972|9489972	0.793000|0.793000	0.28825|0.28825	0.898000|0.898000	0.35279|0.35279	0.997000|0.997000	0.91878|0.91878	1.464000|1.464000	0.35288|0.35288	0.152000|0.152000	0.19188|0.19188	0.650000|0.650000	0.86243|0.86243	GCT|TGC	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318425.1		+	ENST00000406341.1	Missense_Mutation	SNP	3 : 9514972 - 9514972 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	225	36
PCNT	5116	broad.mit.edu	37	21	47786808	47786808	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47786808C>T	ENST00000359568.5	+	15	3026	c.2919C>T	c.(2917-2919)tcC>tcT	p.S973S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	973					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CTTTGGAATCCTGTTACCTCT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	86	84			NA	NA	21		NA											NA				47786808		2203	4300	6503	SO:0001819	synonymous_variant			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299	5116	5116			16068	protein-coding gene	gene with protein product	kendrin, Seckel syndrome 4	605925	pericentrin 2 (kendrin)	PCNT2	NA	8812505, 9455477	Standard	NM_006031	NM_006031	NA	Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.2919C>T	21.37:g.47786808C>T		NA	O43152|Q7Z7C9	37	CCDS33592.1																																																																																			PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207336.1		+	ENST00000359568.5	Silent	SNP	21 : 47786808 - 47786808 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	570	20
GLDC	2731	broad.mit.edu	37	9	6592198	6592198	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6592198A>G	ENST00000321612.6	-	11	1577	c.1427T>C	c.(1426-1428)gTc>gCc	p.V476A		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	476					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TTTTTCATTGACTGTTTCATC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	80	83			NA	NA	9		NA											NA				6592198		2203	4300	6503	SO:0001583	missense			D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	2731	2731	1.4.4.2		4313	protein-coding gene	gene with protein product	glycine cleavage system protein P, glycine decarboxylase	238300	glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)		NA	1993704, 1996985	Standard	NM_000170	NM_000170	NA	Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.1427T>C	9.37:g.6592198A>G	ENSP00000370737:p.Val476Ala	NA	Q2M2F8	37	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.697935	0.88830	.	.	ENSG00000178445	ENST00000321612	D	0.95690	-3.78	5.14	5.14	0.70334	Glycine cleavage system P-protein, N-terminal (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.133319	0.49916	D	0.000129	D	0.96781	0.8949	M	0.78049	2.395	0.80722	D	1	P	0.52692	0.955	P	0.55749	0.783	D	0.97172	0.9845	10	0.66056	D	0.02	-24.8041	14.9935	0.71412	1.0:0.0:0.0:0.0	.	476	P23378	GCSP_HUMAN	A	476	ENSP00000370737:V476A	ENSP00000370737:V476A	V	-	2	0	GLDC	6582198	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.244000	0.89823	1.933000	0.56026	0.459000	0.35465	GTC	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051674.2		-	ENST00000321612.6	Missense_Mutation	SNP	9 : 6592198 - 6592198 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	71
LRFN5	145581	broad.mit.edu	37	14	42360508	42360508	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:42360508A>G	ENST00000298119.4	+	4	2630	c.1441A>G	c.(1441-1443)Atg>Gtg	p.M481V	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	481	Fibronectin type-III.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGCTGGAACTATGTATGACTT	0.403		NA								HNSCC(30;0.082)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													177	143	154			NA	NA	14		NA											NA				42360508		2203	4300	6503	SO:0001583	missense			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379	145581	145581		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	20360	protein-coding gene	gene with protein product	fibronectin type III, immunoglobulin and leucine rich repeat domains 8	612811	chromosome 14 open reading frame 146	C14orf146	NA	16828986	Standard	NM_152447	NM_152447	NA	Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1441A>G	14.37:g.42360508A>G	ENSP00000298119:p.Met481Val	NA	B3KU78|Q86XL2	37	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	A	7.305	0.613840	0.14066	.	.	ENSG00000165379	ENST00000298119	T	0.67345	-0.26	5.88	3.54	0.40534	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.208081	0.33916	N	0.004434	T	0.44808	0.1311	N	0.22421	0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.32481	-0.9905	10	0.33940	T	0.23	.	2.5238	0.04686	0.5668:0.0:0.2343:0.1989	.	481	Q96NI6	LRFN5_HUMAN	V	481	ENSP00000298119:M481V	ENSP00000298119:M481V	M	+	1	0	LRFN5	41430258	0.604000	0.26932	1.000000	0.80357	0.997000	0.91878	0.672000	0.25187	1.045000	0.40225	0.528000	0.53228	ATG	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276786.1		+	ENST00000298119.4	Missense_Mutation	SNP	14 : 42360508 - 42360508 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	865	167
HFE2	148738	broad.mit.edu	37	1	145416857	145416857	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145416857C>T	ENST00000336751.5	+	4	1440	c.1202C>T	c.(1201-1203)gCt>gTt	p.A401V	HFE2_ENST00000497365.1_Missense_Mutation_p.A175V|HFE2_ENST00000475797.1_Missense_Mutation_p.A175V|HFE2_ENST00000357836.5_Missense_Mutation_p.A288V	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	401					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCCTCAGATGCTGGGGTTCCT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	99	104			NA	NA	1		NA											NA				145416857		2203	4300	6503	SO:0001583	missense			AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509	148738	148738			4887	protein-coding gene	gene with protein product	repulsive guidance molecule c	608374			NA	10205270, 14647275	Standard	NM_145277	NM_213653	NA	Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.1202C>T	1.37:g.145416857C>T	ENSP00000337014:p.Ala401Val	NA	B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	37	CCDS910.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806749	0.31961	.	.	ENSG00000168509	ENST00000357836;ENST00000336751;ENST00000497365;ENST00000475797	D;D;T;T	0.93547	-2.84;-3.24;-1.33;-1.33	5.44	3.55	0.40652	Repulsive guidance molecule, C-terminal (1);	0.615570	0.16395	N	0.216261	T	0.81351	0.4804	L	0.43152	1.355	0.32942	D	0.51858	B	0.11235	0.004	B	0.19391	0.025	T	0.65894	-0.6057	10	0.14656	T	0.56	-4.8878	10.1462	0.42764	0.0:0.8363:0.0:0.1637	.	401	Q6ZVN8	RGMC_HUMAN	V	288;401;175;175	ENSP00000350495:A288V;ENSP00000337014:A401V;ENSP00000421820:A175V;ENSP00000425716:A175V	ENSP00000337014:A401V	A	+	2	0	HFE2	144128214	0.781000	0.28676	0.287000	0.24848	0.116000	0.19942	0.827000	0.27421	0.840000	0.34995	0.655000	0.94253	GCT	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000038527.1		+	ENST00000336751.5	Missense_Mutation	SNP	1 : 145416857 - 145416857 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	530	97
CPZ	8532	broad.mit.edu	37	4	8616132	8616132	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8616132G>A	ENST00000315782.6	+	8	1455	c.1377G>A	c.(1375-1377)acG>acA	p.T459T	CPZ_ENST00000382480.2_Silent_p.T333T|CPZ_ENST00000429646.2_Silent_p.T78T|CPZ_ENST00000360986.4_Silent_p.T470T	NM_003652.3	NP_003643	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	470					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TTGAGATCACGGTAGAGCTGG	0.572		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	154	134	141		1410,999,1377	-9.5	0	4		141	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	CPZ	NM_001014447.2,NM_001014448.2,NM_003652.3	,,	0,3,6500	AA,AG,GG	NA	0.0349,0.0,0.0231	,,	470/653,333/516,459/642	8616132	3,13003	2203	4300	6503	SO:0001819	synonymous_variant			U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625	8532	8532			2333	protein-coding gene	gene with protein product	metallocarboxypeptidase Z	603105			NA	9099699	Standard	NM_003652	NM_001014447	NA	Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000315782.6:c.1377G>A	4.37:g.8616132G>A		NA	O00520|Q96MX2	37	CCDS3404.1																																																																																			CPZ-001	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359214.1		+	ENST00000315782.6	Silent	SNP	4 : 8616132 - 8616132 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	481	84
GUCA1C	9626	broad.mit.edu	37	3	108634989	108634989	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108634989C>T	ENST00000261047.3	-	3	559	c.427G>A	c.(427-429)Gat>Aat	p.D143N	GUCA1C_ENST00000393963.3_Missense_Mutation_p.D143N|GUCA1C_ENST00000471108.1_Missense_Mutation_p.D143N	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	143	EF-hand 4.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity	p.D143Y(1)		endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						TTGTTTATATCGATCTTATGG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(157;1360 1999 30631 40189 44208)							NA				1	Substitution - Missense(1)	lung(1)											169	163	165			NA	NA	3		NA											NA				108634989		2203	4300	6503	SO:0001583	missense			AF110002	CCDS2954.1	3q13.1	2013-01-10			ENSG00000138472	ENSG00000138472	9626	9626		EF-hand domain containing	4680	protein-coding gene	gene with protein product	guanylyl cyclase-activating protein 3	605128			NA	10037746, 11860507	Standard	NM_005459	NM_005459	NA	Approved	GCAP3	uc003dxj.2	O95843	OTTHUMG00000159204	ENST00000261047.3:c.427G>A	3.37:g.108634989C>T	ENSP00000261047:p.Asp143Asn	NA	O95844|Q9UNM0	37	CCDS2954.1	.	.	.	.	.	.	.	.	.	.	c	16.64	3.179294	0.57800	.	.	ENSG00000138472	ENST00000393963;ENST00000261047;ENST00000471108	D;D;D	0.90955	-2.76;-2.76;-2.76	4.32	0.218	0.15270	EF-hand-like domain (1);	0.272597	0.40385	N	0.001114	D	0.95705	0.8603	H	0.97158	3.95	0.09310	N	0.999994	D;D	0.89917	1.0;1.0	D;P	0.81914	0.995;0.811	D	0.88836	0.3309	10	0.87932	D	0	.	5.8719	0.18809	0.0:0.5256:0.2963:0.1781	.	143;143	C9JNI2;O95843	.;GUC1C_HUMAN	N	143	ENSP00000377535:D143N;ENSP00000261047:D143N;ENSP00000417761:D143N	ENSP00000261047:D143N	D	-	1	0	GUCA1C	110117679	0.668000	0.27493	0.000000	0.03702	0.792000	0.44763	1.525000	0.35953	-0.203000	0.10251	0.651000	0.88453	GAT	GUCA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353819.1		-	ENST00000261047.3	Missense_Mutation	SNP	3 : 108634989 - 108634989 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	571	99
RAPGEF2	9693	broad.mit.edu	37	4	160251584	160251584	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:160251584T>G	ENST00000264431.4	+	7	1337	c.918T>G	c.(916-918)ctT>ctG	p.L306L		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	306	N-terminal Ras-GEF.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GGACTTTTCTTTCTAGCCCAA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	132	135			NA	NA	4		NA											NA				160251584		1827	4079	5906	SO:0001819	synonymous_variant			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01			9693	9693			16854	protein-coding gene	gene with protein product	Rap GEP	609530	PDZ domain containing guanine nucleotide exchange factor (GEF) 1	PDZGEF1	NA	9205841, 10934204	Standard	NM_014247	NM_014247	NA	Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.918T>G	4.37:g.160251584T>G		NA	D3DP27	37	CCDS43277.1																																																																																			RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364980.2		+	ENST00000264431.4	Silent	SNP	4 : 160251584 - 160251584 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	637	109
DNAH9	1770	broad.mit.edu	37	17	11556085	11556085	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11556085C>T	ENST00000454412.2	+	14	2361	c.2361C>T	c.(2359-2361)tgC>tgT	p.C787C	DNAH9_ENST00000262442.4_Silent_p.C787C			Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	787	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.C787C(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGGCATTTGCGATTATGTCA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											93	92	93			NA	NA	17		NA											NA				11556085		2203	4300	6503	SO:0001819	synonymous_variant			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174	1770	1770		Axonemal dyneins	2953	protein-coding gene	gene with protein product		603330	dynein, axonemal, heavy polypeptide 17-like, dynein, axonemal, heavy polypeptide 9	DNAH17L	NA	8812413, 11247663	Standard	NM_001372	NM_001372	NA	Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000454412.2:c.2361C>T	17.37:g.11556085C>T		NA	O15064|O95494|Q9NQ28	37																																																																																				DNAH9-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000252758.4		+	ENST00000454412.2	Silent	SNP	17 : 11556085 - 11556085 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	473	75
TNKS	8658	broad.mit.edu	37	8	9623794	9623794	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:9623794G>A	ENST00000518281.1	+	25	3319	c.2888G>A	c.(2887-2889)cGa>cAa	p.R963Q	TNKS_ENST00000310430.6_Missense_Mutation_p.R1200Q			O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1200					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	p.R1200Q(2)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TTTGATGAGCGACATGCATAC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(2)											105	104	104			NA	NA	8		NA											NA				9623794		2203	4300	6503	SO:0001583	missense			AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273	8658	8658		Poly (ADP-ribose) polymerases, Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	11941	protein-coding gene	gene with protein product		603303			NA	9822378, 10198177	Standard	NM_003747	XM_006716263	NA	Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000518281.1:c.2888G>A	8.37:g.9623794G>A	ENSP00000429890:p.Arg963Gln	NA	O95272	37		.	.	.	.	.	.	.	.	.	.	G	36	5.633902	0.96682	.	.	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.14266	2.52;2.52	5.98	5.98	0.97165	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.30135	0.0755	M	0.76328	2.33	0.80722	D	1	D	0.63880	0.993	P	0.49192	0.602	T	0.02093	-1.1215	10	0.87932	D	0	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	1200	O95271	TNKS1_HUMAN	Q	1200;963	ENSP00000311579:R1200Q;ENSP00000429890:R963Q	ENSP00000311579:R1200Q	R	+	2	0	TNKS	9661204	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	9.869000	0.99810	2.835000	0.97688	0.650000	0.86243	CGA	TNKS-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000375036.1		+	ENST00000518281.1	Missense_Mutation	SNP	8 : 9623794 - 9623794 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	666	116
NBEAL2	23218	broad.mit.edu	37	3	47042768	47042768	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47042768G>T	ENST00000450053.3	+	29	4663		c.e29-1		NBEAL2_ENST00000292309.5_Splice_Site|NBEAL2_ENST00000383740.2_Splice_Site	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	NA							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCACCCGCCAGCCTCCTGGAG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	77	72			NA	NA	3		NA											NA				47042768		2098	4226	6324	SO:0001630	splice_region_variant			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796	23218	23218		WD repeat domain containing	31928	protein-coding gene	gene with protein product		614169			NA		Standard	XM_291064	NM_015175	NA	Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4485-1G>T	3.37:g.47042768G>T		NA	O60288|Q6P994|Q6UX91|Q8NAC9	37	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160308	0.78226	.	.	ENSG00000160796	ENST00000292309;ENST00000450053;ENST00000416683	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1249	0.81386	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NBEAL2	47017772	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.542000	0.98086	2.667000	0.90743	0.563000	0.77884	.	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344363.3	Intron	+	ENST00000450053.3	Splice_Site	SNP	3 : 47042768 - 47042768 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	590	103
AREL1	9870	broad.mit.edu	37	14	75142633	75142633	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75142633G>A	ENST00000356357.4	-	8	1364	c.849C>T	c.(847-849)atC>atT	p.I283I	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1	NA											NA						TGCGTTCGACGATATTCTTCT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	119	120			NA	NA	14		NA											NA				75142633		1948	4139	6087	SO:0001819	synonymous_variant			AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682	9870	9870			20363	protein-coding gene	gene with protein product		615380	KIAA0317	KIAA0317	NA	9205841, 23479728	Standard	NM_014821	XM_006720344	NA	Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.849C>T	14.37:g.75142633G>A		NA		37	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	G	9.329	1.059960	0.19987	.	.	ENSG00000119682	ENST00000490805	.	.	.	5.87	-5.23	0.02798	.	.	.	.	.	T	0.65302	0.2678	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66432	-0.5925	4	.	.	.	.	16.4977	0.84249	0.4531:0.0:0.5469:0.0	.	.	.	.	L	31	.	.	S	-	2	0	KIAA0317	74212386	0.999000	0.42202	0.626000	0.29213	0.977000	0.68977	0.941000	0.29005	-1.048000	0.03238	-0.469000	0.05056	TCG	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335517.2		-	ENST00000356357.4	Silent	SNP	14 : 75142633 - 75142633 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	816	145
CD276	80381	broad.mit.edu	37	15	73995295	73995295	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73995295T>G	ENST00000318443.5	+	4	903	c.601T>G	c.(601-603)Ttg>Gtg	p.L201V	CD276_ENST00000564751.1_Intron|CD276_ENST00000318424.5_Intron|CD276_ENST00000561213.1_Missense_Mutation_p.L201V|CD276_ENST00000537340.2_Missense_Mutation_p.L55V	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	201	Ig-like C2-type 1.				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						CGAGCAGGGCTTGTTTGATGT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	85	92			NA	NA	15		NA											NA				73995295		2198	4297	6495	SO:0001583	missense			AF302102	CCDS10251.1, CCDS32288.1	15q23-q24	2013-01-11	2006-03-28		ENSG00000103855	ENSG00000103855	80381	80381		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing	19137	protein-coding gene	gene with protein product		605715	CD276 antigen		NA	11224528, 12055244	Standard	NM_025240	XM_005254699	NA	Approved	B7-H3, B7H3, B7RP-2	uc002avv.1	Q5ZPR3	OTTHUMG00000137585	ENST00000318443.5:c.601T>G	15.37:g.73995295T>G	ENSP00000320084:p.Leu201Val	NA	Q6P5Y4|Q6UXI2|Q8NBI8|Q8NC34|Q8NCB6|Q9BXR1	37	CCDS32288.1	.	.	.	.	.	.	.	.	.	.	T	14.64	2.595574	0.46318	.	.	ENSG00000103855	ENST00000318443;ENST00000379823;ENST00000537340	T;T	0.80824	-1.42;-1.42	3.29	-3.87	0.04218	Immunoglobulin subtype 2 (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.89897	0.6848	M	0.90977	3.165	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.995;0.997;0.994	D	0.89774	0.3956	9	0.87932	D	0	.	13.8295	0.63370	0.0:0.8405:0.0:0.1595	.	147;201;201	B4DK26;Q5ZPR3;Q5ZPR3-4	.;CD276_HUMAN;.	V	201;201;55	ENSP00000320084:L201V;ENSP00000441087:L55V	ENSP00000320084:L201V	L	+	1	2	CD276	71782348	0.053000	0.20554	0.962000	0.40283	0.127000	0.20565	0.193000	0.17116	-0.903000	0.03881	0.260000	0.18958	TTG	CD276-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268979.1		+	ENST00000318443.5	Missense_Mutation	SNP	15 : 73995295 - 73995295 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	43
USH2A	7399	broad.mit.edu	37	1	215812508	215812508	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215812508G>A	ENST00000307340.3	-	69	15427	c.15041C>T	c.(15040-15042)tCt>tTt	p.S5014F	USH2A_ENST00000366943.2_Missense_Mutation_p.S5014F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5014	Fibronectin type-III 35.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAGTCCAGTAGAGGTATCATA	0.398		NA								HNSCC(13;0.011)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													232	232	232			NA	NA	1		NA											NA				215812508		2203	4300	6503	SO:0001583	missense			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781	7399	7399		Fibronectin type III domain containing	12601	protein-coding gene	gene with protein product	usherin	608400		USH2	NA	9624053, 10729113	Standard	NM_007123	NM_007123	NA	Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.15041C>T	1.37:g.215812508G>A	ENSP00000305941:p.Ser5014Phe	NA	Q5VVM9|Q6S362|Q9NS27	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.255912	0.39896	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.13778	2.56;2.56	5.2	3.2	0.36748	Fibronectin, type III (1);	0.641375	0.12801	U	0.438029	T	0.23330	0.0564	M	0.63428	1.95	0.09310	N	1	D	0.56521	0.976	P	0.48030	0.564	T	0.11792	-1.0573	10	0.48119	T	0.1	.	15.9808	0.80108	0.0:0.3703:0.6297:0.0	.	5014	O75445	USH2A_HUMAN	F	5014	ENSP00000305941:S5014F;ENSP00000355910:S5014F	ENSP00000305941:S5014F	S	-	2	0	USH2A	213879131	0.194000	0.23325	0.015000	0.15790	0.374000	0.29953	2.955000	0.49121	1.176000	0.42840	0.655000	0.94253	TCT	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128138.1		-	ENST00000307340.3	Missense_Mutation	SNP	1 : 215812508 - 215812508 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1160	290
SAMD9	54809	broad.mit.edu	37	7	92730814	92730814	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92730814G>A	ENST00000379958.2	-	3	4866	c.4597C>T	c.(4597-4599)Cga>Tga	p.R1533*		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1533						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTCAGCTCGACCTTGTAAA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	81	80			NA	NA	7		NA											NA				92730814		2203	4300	6503	SO:0001587	stop_gained			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413	54809	54809		Sterile alpha motif (SAM) domain containing	1348	protein-coding gene	gene with protein product		610456	chromosome 7 open reading frame 5	C7orf5	NA		Standard	NM_017654	NM_017654	NA	Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.4597C>T	7.37:g.92730814G>A	ENSP00000369292:p.Arg1533*	NA	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	37	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	G	43	10.085803	0.99333	.	.	ENSG00000205413	ENST00000379958	.	.	.	4.34	2.34	0.29019	.	0.399395	0.20515	U	0.090804	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3242	0.43783	0.0:0.0:0.4711:0.5289	.	.	.	.	X	1533	.	ENSP00000369292:R1533X	R	-	1	2	SAMD9	92568750	0.003000	0.15002	0.750000	0.31169	0.630000	0.37929	1.478000	0.35442	1.173000	0.42796	0.609000	0.83330	CGA	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341761.1		-	ENST00000379958.2	Nonsense_Mutation	SNP	7 : 92730814 - 92730814 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	38
CCNA1	8900	broad.mit.edu	37	13	37012230	37012230	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37012230C>A	ENST00000255465.4	+	4	835	c.571C>A	c.(571-573)Ctc>Atc	p.L191I	CCNA1_ENST00000440264.1_Missense_Mutation_p.L147I|CCNA1_ENST00000449823.1_Missense_Mutation_p.L147I|CCNA1_ENST00000418263.1_Missense_Mutation_p.L190I			P78396	CCNA1_HUMAN	cyclin A1	191					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		AGATTCATCTCTCCTCTCCCA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													193	187	189			NA	NA	13		NA											NA				37012230		2203	4300	6503	SO:0001583	missense			U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101	8900	8900			1577	protein-coding gene	gene with protein product		604036			NA	9041194	Standard	NM_003914	NM_003914	NA	Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.571C>A	13.37:g.37012230C>A	ENSP00000255465:p.Leu191Ile	NA	Q5T3V0|Q5U0G2|Q8IY91	37	CCDS9357.1	.	.	.	.	.	.	.	.	.	.	C	5.194	0.221422	0.09863	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.15718	2.45;2.45;2.4;2.4	5.76	1.58	0.23477	.	1.145020	0.06264	N	0.694418	T	0.12008	0.0292	L	0.33137	0.985	0.09310	N	1	B;B	0.17038	0.02;0.011	B;B	0.19946	0.027;0.016	T	0.40232	-0.9574	10	0.07990	T	0.79	.	6.1055	0.20071	0.1185:0.3557:0.442:0.0838	.	190;191	P78396-2;P78396	.;CCNA1_HUMAN	I	147;147;190;191	ENSP00000400666:L147I;ENSP00000409873:L147I;ENSP00000396479:L190I;ENSP00000255465:L191I	ENSP00000255465:L191I	L	+	1	0	CCNA1	35910230	0.889000	0.30405	0.000000	0.03702	0.004000	0.04260	0.571000	0.23669	-0.054000	0.13266	0.563000	0.77884	CTC	CCNA1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044514.2		+	ENST00000255465.4	Missense_Mutation	SNP	13 : 37012230 - 37012230 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1034	149
DCSTAMP	81501	broad.mit.edu	37	8	105361526	105361526	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105361526G>A	ENST00000517991.1	+	1	758	c.746G>A	c.(745-747)aGa>aAa	p.R249K	DCSTAMP_ENST00000297581.2_Missense_Mutation_p.R249K|DPYS_ENST00000521601.1_Intron	NM_001257317.1	NP_001244246.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	249					osteoclast differentiation	cell surface|integral to membrane|plasma membrane					NA						TACATCACCAGACAATTTGTT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	95	97			NA	NA	8		NA											NA				105361526		2203	4300	6503	SO:0001583	missense			AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935	81501	81501			18549	protein-coding gene	gene with protein product	Dendritic cells (DC)-specific transmembrane protein, IL-Four INDuced	605933	transmembrane 7 superfamily member 4	TM7SF4	NA	11169400, 11345591	Standard	NM_030788	NM_030788	NA	Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000517991.1:c.746G>A	8.37:g.105361526G>A	ENSP00000428869:p.Arg249Lys	NA	Q2M2D5	37	CCDS59111.1	.	.	.	.	.	.	.	.	.	.	G	3.910	-0.020304	0.07634	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T;T	0.27557	1.66;1.66	5.76	1.79	0.24919	Dendritic cell-specific transmembrane protein-like (1);	0.327641	0.37669	N	0.001987	T	0.09512	0.0234	N	0.01751	-0.74	0.09310	N	0.999992	B	0.06786	0.001	B	0.08055	0.003	T	0.32771	-0.9894	9	.	.	.	-6.85	7.061	0.25125	0.4599:0.0:0.5401:0.0	.	249	Q9H295	TM7S4_HUMAN	K	249	ENSP00000297581:R249K;ENSP00000428869:R249K	.	R	+	2	0	TM7SF4	105430702	0.788000	0.28762	0.988000	0.46212	0.955000	0.61496	1.224000	0.32539	0.721000	0.32231	0.555000	0.69702	AGA	DCSTAMP-007	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380811.1		+	ENST00000517991.1	Missense_Mutation	SNP	8 : 105361526 - 105361526 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	553	105
TRIM69	140691	broad.mit.edu	37	15	45059546	45059546	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45059546G>A	ENST00000558173.1	+	5	5212	c.467G>A	c.(466-468)aGg>aAg	p.R156K	TRIM69_ENST00000558329.1_Missense_Mutation_p.R139K|TRIM69_ENST00000559390.1_Missense_Mutation_p.R360K|TRIM69_ENST00000329464.4_Missense_Mutation_p.R360K|TRIM69_ENST00000561043.1_Missense_Mutation_p.R123K|TRIM69_ENST00000560442.1_Missense_Mutation_p.R156K|TRIM69_ENST00000338264.4_Missense_Mutation_p.R201K			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	360					apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		GATCCTGAGAGGTTTGACTCA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(84;519 1450 1802 20427 34706)							NA				0													149	149	149			NA	NA	15		NA											NA				45059546		2198	4298	6496	SO:0001583	missense			AF302088	CCDS10114.1, CCDS32220.1, CCDS73719.1	15q15-q21	2013-01-09	2011-01-25	2006-09-26	ENSG00000185880	ENSG00000185880	NA	140691		RING-type (C3HC4) zinc fingers, Tripartite motif containing / Tripartite motif containing	17857	protein-coding gene	gene with protein product			ring finger protein 36, tripartite motif-containing 69	RNF36	NA		Standard		XM_005254162	NA	Approved	Trif, TRIMLESS	uc001zug.1	Q86WT6	OTTHUMG00000131246	ENST00000558173.1:c.467G>A	15.37:g.45059546G>A	ENSP00000452855:p.Arg156Lys	NA	A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	37		.	.	.	.	.	.	.	.	.	.	G	25.8	4.675339	0.88445	.	.	ENSG00000185880	ENST00000329464;ENST00000338264	T;T	0.58506	0.33;0.33	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.64402	D	0.000003	T	0.77350	0.4117	M	0.85373	2.75	0.37631	D	0.921682	D;D;D	0.64830	0.965;0.994;0.991	P;D;P	0.63877	0.838;0.919;0.9	T	0.82190	-0.0580	10	0.52906	T	0.07	.	16.8968	0.86102	0.0:0.0:1.0:0.0	.	139;201;360	Q86WT6-4;Q86WT6-2;Q86WT6	.;.;TRI69_HUMAN	K	360;201	ENSP00000332284:R360K;ENSP00000342922:R201K	ENSP00000332284:R360K	R	+	2	0	TRIM69	42846838	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.784000	0.99039	2.589000	0.87451	0.650000	0.86243	AGG	TRIM69-006	KNOWN	alternative_5_UTR|basic	protein_coding	NA	protein_coding	OTTHUMT00000416179.1		+	ENST00000558173.1	Missense_Mutation	SNP	15 : 45059546 - 45059546 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	788	132
PCNX	22990	broad.mit.edu	37	14	71540352	71540352	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71540352C>T	ENST00000304743.2	+	27	5389	c.4943C>T	c.(4942-4944)cCt>cTt	p.P1648L	PCNX_ENST00000439984.3_Missense_Mutation_p.P1537L|PCNX_ENST00000238570.5_Missense_Mutation_p.P1576L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1648						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGCCATATTCCTCACATGCTT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													257	218	231			NA	NA	14		NA											NA				71540352		2203	4300	6503	SO:0001583	missense			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03					22990	22990			19740	protein-coding gene	gene with protein product			pecanex-like 1 (Drosophila)	PCNXL1	NA	9244429, 15777640	Standard	NM_014982	NM_014982	NA	Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.4943C>T	14.37:g.71540352C>T	ENSP00000304192:p.Pro1648Leu	NA	O94897|Q96AI7|Q9Y2J9	37	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.520918|4.520918	0.85495|0.85495	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000554691|ENST00000304743;ENST00000238570;ENST00000439984	.|T;T;T	.|0.12879	.|3.0;3.03;2.64	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	.|0.097108	.|0.85682	.|D	.|0.000000	T|T	0.41373|0.41373	0.1156|0.1156	M|M	0.79011|0.79011	2.435|2.435	0.52501|0.52501	D|D	0.999954|0.999954	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.998;0.998;0.997	T|T	0.31223|0.31223	-0.9951|-0.9951	5|10	.|0.72032	.|D	.|0.01	.|.	18.7985|18.7985	0.92007|0.92007	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1576;1537;1648	.|Q96RV3-3;B2RTR6;Q96RV3	.|.;.;PCX1_HUMAN	F|L	635|1648;1576;1537	.|ENSP00000304192:P1648L;ENSP00000238570:P1576L;ENSP00000396617:P1537L	.|ENSP00000238570:P1576L	L|P	+|+	1|2	0|0	PCNX|PCNX	70610105|70610105	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	7.278000|7.278000	0.78587|0.78587	2.751000|2.751000	0.94390|0.94390	0.650000|0.650000	0.86243|0.86243	CTC|CCT	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412479.1		+	ENST00000304743.2	Missense_Mutation	SNP	14 : 71540352 - 71540352 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	577	124
CCT5	22948	broad.mit.edu	37	5	10258614	10258614	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10258614C>T	ENST00000280326.4	+	6	1260	c.840C>T	c.(838-840)taC>taT	p.Y280Y	CCT5_ENST00000515676.1_Silent_p.Y242Y|CCT5_ENST00000506600.1_Silent_p.Y187Y|CCT5_ENST00000515390.1_Silent_p.Y225Y|CCT5_ENST00000503026.1_Silent_p.Y259Y	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	280					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						TTCAGAAATACGAAAAGGAGA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	85	86			NA	NA	5		NA											NA				10258614		2203	4300	6503	SO:0001819	synonymous_variant			D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753	22948	22948		Heat Shock Proteins / Chaperonins	1618	protein-coding gene	gene with protein product		610150			NA		Standard		NM_012073	NA	Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.840C>T	5.37:g.10258614C>T		NA	A8JZY8	37	CCDS3877.1																																																																																			CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253688.2		+	ENST00000280326.4	Silent	SNP	5 : 10258614 - 10258614 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	455	69
PPARGC1A	10891	broad.mit.edu	37	4	23815376	23815376	+	Missense_Mutation	SNP	G	G	A	rs17847360	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:23815376G>A	ENST00000264867.2	-	8	1849	c.1730C>T	c.(1729-1731)tCg>tTg	p.S577L	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	577	Arg/Ser-rich.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TCGGGAACACGACCTGTGTCG	0.458		NA											G	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.9547	EXOME	NA	NA	3e-04	SNP	Esophageal Squamous(29;694 744 13796 34866 44181)							NA				0								G	LEU/SER	0,4406		0,0,2203	83	83	83		1730	6.2	1	4	dbSNP_123	83	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PPARGC1A	NM_013261.3	145	0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154	probably-damaging	577/799	23815376	2,13004	2203	4300	6503	SO:0001583	missense			AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819	10891	10891		RNA binding motif (RRM) containing	9237	protein-coding gene	gene with protein product		604517	peroxisome proliferative activated receptor, gamma, coactivator 1, peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	PPARGC1	NA	10585775	Standard	NM_013261	NM_013261	NA	Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1730C>T	4.37:g.23815376G>A	ENSP00000264867:p.Ser577Leu	NA	Q9UN32	37	CCDS3429.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.23	3.786916	0.70337	0.0	2.33E-4	ENSG00000109819	ENST00000264867	T	0.48201	0.82	6.16	6.16	0.99307	.	0.110926	0.64402	D	0.000005	T	0.72078	0.3416	M	0.80982	2.52	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.69045	-0.5249	10	0.42905	T	0.14	-3.6221	20.8598	0.99761	0.0:0.0:1.0:0.0	rs17847360	577	Q9UBK2	PRGC1_HUMAN	L	577	ENSP00000264867:S577L	ENSP00000264867:S577L	S	-	2	0	PPARGC1A	23424474	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.986000	0.93492	2.937000	0.99478	0.650000	0.86243	TCG	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214976.1		-	ENST00000264867.2	Missense_Mutation	SNP	4 : 23815376 - 23815376 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	85
COL6A5	256076	broad.mit.edu	37	3	130095372	130095372	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130095372C>A	ENST00000265379.6	+	3	854	c.360C>A	c.(358-360)acC>acA	p.T120T	COL6A5_ENST00000432398.2_Silent_p.T120T			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	120	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CTCATAGGACCTACTTCTCTG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	61	62			NA	NA	3		NA											NA				130095372		692	1591	2283	SO:0001819	synonymous_variant			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752	256076	256076		Collagens	26674	protein-coding gene	gene with protein product	von Willebrand factor A domain containing 4	611916	collagen, type XXIX, alpha 1	COL29A1	NA	17850181	Standard	NM_153264	NM_153264	NA	Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000265379.6:c.360C>A	3.37:g.130095372C>A		NA	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	37																																																																																				COL6A5-201	KNOWN	basic	protein_coding	NA	protein_coding			+	ENST00000265379.6	Silent	SNP	3 : 130095372 - 130095372 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	85	22
VIPR1	7433	broad.mit.edu	37	3	42568884	42568884	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42568884G>T	ENST00000433647.1	+	6	900		c.e6-1		VIPR1-AS1_ENST00000596630.1_RNA|VIPR1_ENST00000325123.4_Splice_Site|VIPR1_ENST00000543411.1_Intron|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1_ENST00000473575.1_Splice_Site|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1_ENST00000438259.2_Intron|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA	NM_001251882.1	NP_001238811.1	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	NA					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CCCTCCAACAGCAGCAGACCA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	115	121			NA	NA	3		NA											NA				42568884		2203	4300	6503	SO:0001630	splice_region_variant			AH005329	CCDS2698.1, CCDS58827.1, CCDS58828.1, CCDS58829.1	3p22	2012-08-10			ENSG00000114812	ENSG00000114812	7433	7433		GPCR / Class B : VIP and PACAP (ADCYAP1) receptors	12694	protein-coding gene	gene with protein product	VIP and PACAP receptor 1	192321			NA	7708752	Standard	NM_004624	NM_004624	NA	Approved	VPAC1, RDC1, HVR1, VPAC1R	uc003clf.2	P32241	OTTHUMG00000131792	ENST00000433647.1:c.277-1G>T	3.37:g.42568884G>T		NA	A5JUT9|Q15871|Q6P2M6	37	CCDS58828.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.793086	0.31685	.	.	ENSG00000114812	ENST00000433647;ENST00000450274;ENST00000439731;ENST00000325123	.	.	.	4.71	2.72	0.32119	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5622	0.50782	0.0:0.3435:0.6565:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VIPR1	42543888	0.213000	0.23551	0.574000	0.28523	0.233000	0.25261	0.192000	0.17096	1.050000	0.40346	0.655000	0.94253	.	VIPR1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343238.1	Intron	+	ENST00000433647.1	Splice_Site	SNP	3 : 42568884 - 42568884 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	440	68
SMC1A	8243	broad.mit.edu	37	X	53439881	53439881	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53439881G>A	ENST00000322213.4	-	5	950	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	275					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						tgctgctcccgcatcattttg	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	129	139			NA	NA	X		NA											NA				53439881		2203	4300	6503	SO:0001583	missense			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501	8243	8243		Structural maintenance of chromosomes proteins	11111	protein-coding gene	gene with protein product		300040	SMC1 (structural maintenance of chromosomes 1, yeast)-like 1, SMC1 structural maintenance of chromosomes 1-like 1 (yeast)	SMC1L1	NA	7757074	Standard	NM_006306	NM_006306	NA	Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.823C>T	X.37:g.53439881G>A	ENSP00000323421:p.Arg275Trp	NA	O14995|Q16351|Q2M228	37	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726948	0.48833	.	.	ENSG00000072501	ENST00000322213	T	0.78924	-1.22	4.4	4.4	0.53042	RecF/RecN/SMC (1);	0.124433	0.50627	D	0.000101	D	0.88926	0.6570	M	0.91510	3.215	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.979;1.0;0.984	D	0.90213	0.4266	10	0.87932	D	0	.	9.5439	0.39268	0.0:0.0:0.6544:0.3456	.	253;275;275	Q6MZR8;A8K7A6;Q14683	.;.;SMC1A_HUMAN	W	275	ENSP00000323421:R275W	ENSP00000323421:R275W	R	-	1	2	SMC1A	53456606	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	2.262000	0.43285	1.941000	0.56285	0.436000	0.28706	CGG	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056756.2		-	ENST00000322213.4	Missense_Mutation	SNP	X : 53439881 - 53439881 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	112	37
FLRT3	23767	broad.mit.edu	37	20	14308063	14308063	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:14308063G>A	ENST00000378053.3	-	2	346	c.90C>T	c.(88-90)tcC>tcT	p.S30S	FLRT3_ENST00000341420.4_Silent_p.S30S|MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	30	LRRNT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CAGATGGACAGGATTTAGCCA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	101	105			NA	NA	20		NA											NA				14308063		2203	4300	6503	SO:0001819	synonymous_variant			AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848	23767	23767		Fibronectin type III domain containing	3762	protein-coding gene	gene with protein product		604808			NA	10644439	Standard	NM_013281	NM_198391	NA	Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.90C>T	20.37:g.14308063G>A		NA	D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	37	CCDS13121.1																																																																																			FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078075.1		-	ENST00000378053.3	Silent	SNP	20 : 14308063 - 14308063 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	507	85
HOXC4	3221	broad.mit.edu	37	12	54448914	54448914	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54448914G>A	ENST00000430889.2	+	2	766	c.720G>A	c.(718-720)ccG>ccA	p.P240P	HOXC4_ENST00000303406.4_Silent_p.P240P|HOXC4_ENST00000609810.1_Silent_p.P240P	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	240						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						CAGCTACCCCGGGTACTTCTG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	20	20			NA	NA	12		NA											NA				54448914		2203	4300	6503	SO:0001819	synonymous_variant				CCDS8873.1	12q13.13	2011-06-20	2005-12-22		ENSG00000198353	ENSG00000198353	3221	3221		Homeoboxes / ANTP class : HOXL subclass	5126	protein-coding gene	gene with protein product		142974	homeo box C4	HOX3, HOX3E	NA	1973146, 1358459	Standard		NM_014620	NA	Approved		uc001sex.3	P09017	OTTHUMG00000160036	ENST00000430889.2:c.720G>A	12.37:g.54448914G>A		NA		37	CCDS8873.1																																																																																			HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358963.1		+	ENST00000430889.2	Silent	SNP	12 : 54448914 - 54448914 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	153	30
IL6R	3570	broad.mit.edu	37	1	154437670	154437670	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154437670G>A	ENST00000368485.3	+	10	1658	c.1221G>A	c.(1219-1221)ccG>ccA	p.P407P	IL6R_ENST00000344086.4_3'UTR|IL6R_ENST00000507256.1_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	407					acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGCATCCGCCGTACTCTTTGG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	86	88			NA	NA	1		NA											NA				154437670		2203	4300	6503	SO:0001819	synonymous_variant			X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712	3570	3570		Interleukins and interleukin receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	6019	protein-coding gene	gene with protein product		147880			NA		Standard	NM_000565	NM_000565	NA	Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.1221G>A	1.37:g.154437670G>A		NA	A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	37	CCDS1067.1																																																																																			IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087911.1		+	ENST00000368485.3	Silent	SNP	1 : 154437670 - 154437670 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	535	99
FLOT1	10211	broad.mit.edu	37	6	30708465	30708465	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30708465G>A	ENST00000376389.3	-	6	685	c.465C>T	c.(463-465)caC>caT	p.H155H	FLOT1_ENST00000456573.2_Silent_p.H107H|FLOT1_ENST00000470643.1_5'UTR	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN	flotillin 1	155						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						CCTGGTCATCGTGAATGTCCT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													194	186	189			NA	NA	6		NA											NA				30708465		1511	2709	4220	SO:0001819	synonymous_variant			AF089750	CCDS4688.1	6p21.3	2010-02-17			ENSG00000137312	ENSG00000137312	10211	10211			3757	protein-coding gene	gene with protein product		606998			NA		Standard		XM_005248780	NA	Approved		uc003nrm.3	O75955	OTTHUMG00000031151	ENST00000376389.3:c.465C>T	6.37:g.30708465G>A		NA	Q969J8|Q9UHW1|Q9UNV8	37	CCDS4688.1																																																																																			FLOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076276.2		-	ENST00000376389.3	Silent	SNP	6 : 30708465 - 30708465 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	691	105
C1QTNF1	114897	broad.mit.edu	37	17	77042743	77042743	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77042743G>T	ENST00000311661.4	+	2	341	c.16G>T	c.(16-18)Gcc>Tcc	p.A6S	C1QTNF1_ENST00000580474.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.A98S|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.A88S|C1QTNF1_ENST00000339142.2_Missense_Mutation_p.A88S|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.A6S	NM_198594.2	NP_940996.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	88						collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			CCCGGCGACCGCCGTGCCCCA	0.597		NA									OREG0024791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	75	75			NA	NA	17		NA											NA				77042743		2203	4300	6503	SO:0001583	missense			AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918	114897	114897			14324	protein-coding gene	gene with protein product	G protein coupled receptor interacting protein	610365			NA	12409230	Standard	NM_030968	NM_198593	NA	Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000311661.4:c.16G>T	17.37:g.77042743G>T	ENSP00000311265:p.Ala6Ser	1172	Q96NF2|Q9GZR4	37	CCDS11762.1	.	.	.	.	.	.	.	.	.	.	g	2.674	-0.276982	0.05679	.	.	ENSG00000173918	ENST00000339142;ENST00000311661;ENST00000354124;ENST00000392444;ENST00000392445	D;D;D	0.94232	-3.38;-1.51;-3.38	4.21	2.14	0.27477	.	0.290748	0.24652	N	0.036704	D	0.83018	0.5163	N	0.08118	0	0.09310	N	1	B;B;B	0.27823	0.19;0.19;0.116	B;B;B	0.30105	0.111;0.111;0.111	T	0.69658	-0.5086	10	0.14252	T	0.57	.	10.5504	0.45085	0.0:0.5937:0.4063:0.0	.	98;98;88	A8K7L9;Q6ZMH6;Q9BXJ1	.;.;C1QT1_HUMAN	S	88;6;98;88;98	ENSP00000340864:A88S;ENSP00000311265:A6S;ENSP00000343230:A98S	ENSP00000311265:A6S	A	+	1	0	C1QTNF1	74554338	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	0.715000	0.25822	0.489000	0.27749	-0.319000	0.08680	GCC	C1QTNF1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437386.1		+	ENST00000311661.4	Missense_Mutation	SNP	17 : 77042743 - 77042743 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	756	138
ZDHHC4	55146	broad.mit.edu	37	7	6628372	6628372	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6628372A>G	ENST00000396706.2	+	8	1309	c.866A>G	c.(865-867)gAg>gGg	p.E289G	ZDHHC4_ENST00000335965.6_Missense_Mutation_p.E289G|ZDHHC4_ENST00000396713.2_Missense_Mutation_p.E289G|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000405731.3_Missense_Mutation_p.E289G|ZDHHC4_ENST00000396707.2_Missense_Mutation_p.E289G|ZDHHC4_ENST00000396709.1_Missense_Mutation_p.E289G			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	289						integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		ACTACTAACGAGTGGTACAGA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	121	125			NA	NA	7		NA											NA				6628372		2203	4300	6503	SO:0001583	missense			AF201931	CCDS5352.1	7p22.1	2011-01-11			ENSG00000136247	ENSG00000136247	55146	55146		Zinc fingers, DHHC-type	18471	protein-coding gene	gene with protein product					NA		Standard	NM_018106	NM_018106	NA	Approved	FLJ10479, ZNF374	uc003sqj.3	Q9NPG8	OTTHUMG00000023579	ENST00000396706.2:c.866A>G	7.37:g.6628372A>G	ENSP00000379934:p.Glu289Gly	NA	A4D2N9|Q53EV7|Q6FIB5|Q9H0R9	37	CCDS5352.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.176650	0.78564	.	.	ENSG00000136247	ENST00000405731;ENST00000396713;ENST00000396707;ENST00000335965;ENST00000396709;ENST00000396706	T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.72977	0.3528	H	0.97918	4.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83001	-0.0177	10	0.87932	D	0	-23.2176	12.751	0.57308	1.0:0.0:0.0:0.0	.	289	Q9NPG8	ZDHC4_HUMAN	G	289	ENSP00000385027:E289G;ENSP00000379941:E289G;ENSP00000379935:E289G;ENSP00000337475:E289G;ENSP00000379937:E289G;ENSP00000379934:E289G	ENSP00000337475:E289G	E	+	2	0	ZDHHC4	6594897	1.000000	0.71417	0.991000	0.47740	0.600000	0.36913	9.011000	0.93618	1.954000	0.56735	0.533000	0.62120	GAG	ZDHHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207477.3		+	ENST00000396706.2	Missense_Mutation	SNP	7 : 6628372 - 6628372 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	677	38
ARHGEF5	7984	broad.mit.edu	37	7	144061097	144061097	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:144061097C>T	ENST00000056217.5	+	2	1509	c.1335C>T	c.(1333-1335)tcC>tcT	p.S445S		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	445					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					AGGAACTGTCCCCCGCAGCTC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	15	15			NA	NA	7		NA											NA				144061097		1741	3333	5074	SO:0001819	synonymous_variant			U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327	7984	7984		Rho guanine nucleotide exchange factors	13209	protein-coding gene	gene with protein product	transforming immortalized mammary oncogene, guanine nucleotide regulatory protein TIM	600888			NA	8134109, 7656213	Standard	NM_005435	NM_005435	NA	Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.1335C>T	7.37:g.144061097C>T		NA	A6NNJ2|Q6ZML7	37	CCDS34771.1																																																																																			ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349981.1		+	ENST00000056217.5	Silent	SNP	7 : 144061097 - 144061097 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	260	16
FBN3	84467	broad.mit.edu	37	19	8203051	8203051	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8203051C>A	ENST00000600128.1	-	10	1589	c.1175G>T	c.(1174-1176)aGc>aTc	p.S392I	FBN3_ENST00000270509.2_Missense_Mutation_p.S392I|FBN3_ENST00000601739.1_Missense_Mutation_p.S392I			Q75N90	FBN3_HUMAN	fibrillin 3	392						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGGGCCCAGGCTGGGGATCCC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	19	18			NA	NA	19		NA											NA				8203051		2194	4289	6483	SO:0001583	missense				CCDS12196.1	19p13	2008-02-05					84467	84467			18794	protein-coding gene	gene with protein product		608529			NA		Standard	NM_032447	NM_032447	NA	Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1175G>T	19.37:g.8203051C>A	ENSP00000470498:p.Ser392Ile	NA	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	9.180	1.023304	0.19433	.	.	ENSG00000142449	ENST00000270509	D	0.87334	-2.24	4.45	3.41	0.39046	.	0.731136	0.12732	U	0.443799	T	0.75228	0.3821	N	0.14661	0.345	0.20873	N	0.999833	B	0.26002	0.139	B	0.24541	0.054	T	0.61207	-0.7109	10	0.26408	T	0.33	.	9.4563	0.38756	0.0:0.898:0.0:0.102	.	392	Q75N90	FBN3_HUMAN	I	392	ENSP00000270509:S392I	ENSP00000270509:S392I	S	-	2	0	FBN3	8109051	0.966000	0.33281	0.952000	0.39060	0.717000	0.41224	0.760000	0.26475	0.864000	0.35578	-0.350000	0.07774	AGC	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461428.2		-	ENST00000600128.1	Missense_Mutation	SNP	19 : 8203051 - 8203051 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	133	9
CHAMP1	283489	broad.mit.edu	37	13	115090319	115090319	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:115090319G>A	ENST00000361283.1	+	3	1311	c.1002G>A	c.(1000-1002)tgG>tgA	p.W334*		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	334	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding				NA						CAGGACCTTGGAAGCCAGCTA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	104	107			NA	NA	13		NA											NA				115090319		2203	4300	6503	SO:0001587	stop_gained			AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824	283489	283489		Zinc fingers, C2H2-type	20311	protein-coding gene	gene with protein product	chromosome alignment-maintaining phosphoprotein		chromosome 13 open reading frame 8, zinc finger protein 828	C13orf8, ZNF828	NA	21063390	Standard	NM_032436	NM_032436	NA	Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.1002G>A	13.37:g.115090319G>A	ENSP00000354730:p.Trp334*	NA	B3KU06|Q6P181|Q8NC88|Q9BST0	37	CCDS9545.1	.	.	.	.	.	.	.	.	.	.	G	38	7.096602	0.98059	.	.	ENSG00000198824	ENST00000361283	.	.	.	5.92	5.92	0.95590	.	0.000000	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.2647	20.3325	0.98724	0.0:0.0:1.0:0.0	.	.	.	.	X	334	.	.	W	+	3	0	ZNF828	114108421	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.575000	0.36493	2.805000	0.96524	0.655000	0.94253	TGG	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045977.2		+	ENST00000361283.1	Nonsense_Mutation	SNP	13 : 115090319 - 115090319 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	392	83
SNX14	57231	broad.mit.edu	37	6	86259508	86259508	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:86259508G>A	ENST00000314673.3	-	8	900	c.724C>T	c.(724-726)Cac>Tac	p.H242Y	SNX14_ENST00000369627.2_Missense_Mutation_p.H242Y|SNX14_ENST00000505648.1_Missense_Mutation_p.H190Y|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000513865.1_Missense_Mutation_p.H242Y|SNX14_ENST00000346348.3_Missense_Mutation_p.H198Y	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	242	PXA.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		CTTAAATAGTGCAATTCATCT	0.333		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	6		NA											NA				86259508		2203	4300	6503	SO:0001583	missense			AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317	57231	57231		Sorting nexins	14977	protein-coding gene	gene with protein product					NA	11485546, 11736640	Standard	NM_153816	XM_005248738	NA	Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.724C>T	6.37:g.86259508G>A	ENSP00000313121:p.His242Tyr	NA	B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	37	CCDS5004.1	.	.	.	.	.	.	.	.	.	.	G	7.051	0.564490	0.13498	.	.	ENSG00000135317	ENST00000346348;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216	T;T;T;T;T;T	0.31247	1.96;1.92;1.5;1.94;1.92;1.93	5.39	5.39	0.77823	Phox-associated domain (2);	0.169061	0.50627	D	0.000120	T	0.11922	0.0290	N	0.22421	0.69	0.37448	D	0.914689	B;B;B;B	0.28291	0.009;0.206;0.018;0.004	B;B;B;B	0.27076	0.029;0.076;0.049;0.029	T	0.05971	-1.0853	10	0.59425	D	0.04	-4.7065	12.4906	0.55897	0.0765:0.0:0.9235:0.0	.	242;198;242;190	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	Y	198;242;242;190;242;169	ENSP00000257769:H198Y;ENSP00000313121:H242Y;ENSP00000420938:H242Y;ENSP00000427380:H190Y;ENSP00000358641:H242Y;ENSP00000425630:H169Y	ENSP00000313121:H242Y	H	-	1	0	SNX14	86316227	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.306000	0.65756	2.539000	0.85634	0.484000	0.47621	CAC	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041393.2		-	ENST00000314673.3	Missense_Mutation	SNP	6 : 86259508 - 86259508 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	438	75
CTNNB1	1499	broad.mit.edu	37	3	41275096	41275096	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41275096C>T	ENST00000349496.5	+	9	1542	c.1262C>T	c.(1261-1263)gCt>gTt	p.A421V	CTNNB1_ENST00000405570.1_Missense_Mutation_p.A421V|CTNNB1_ENST00000396185.3_Missense_Mutation_p.A421V|CTNNB1_ENST00000453024.1_Missense_Mutation_p.A414V|CTNNB1_ENST00000396183.3_Missense_Mutation_p.A421V	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	421					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	ACCTGTGCAGCTGGAATTCTT	0.453		15	H, Mis, T	PLAG1	colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma				Pilomatrixoma, Familial Clustering of					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(6;3 56 14213 18255)		Dom	yes		3	3p22-p21.3	1499	catenin (cadherin-associated protein), beta 1		E, M, O	0													158	154	155			NA	NA	3		NA											NA				41275096		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036	1499	1499		Armadillo repeat containing	2514	protein-coding gene	gene with protein product		116806	catenin (cadherin-associated protein), beta 1 (88kD)	CTNNB	NA	7829088	Standard	NM_001098210	NM_001098210	NA	Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1262C>T	3.37:g.41275096C>T	ENSP00000344456:p.Ala421Val	NA	A8K1L7|Q8NEW9|Q8NI94|Q9H391	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780016	0.70222	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	5.86	5.86	0.93980	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65491	0.2696	M	0.74881	2.28	0.80722	D	1	B;B;B	0.26547	0.152;0.078;0.152	B;B;B	0.24394	0.053;0.023;0.032	T	0.61123	-0.7126	10	0.30854	T	0.27	-15.8016	20.1865	0.98220	0.0:1.0:0.0:0.0	.	349;414;421	B4DSW9;B4DGU4;P35222	.;.;CTNB1_HUMAN	V	421;421;421;414;421	ENSP00000385604:A421V;ENSP00000379486:A421V;ENSP00000344456:A421V;ENSP00000411226:A414V;ENSP00000379488:A421V	ENSP00000344456:A421V	A	+	2	0	CTNNB1	41250100	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.775000	0.95449	0.655000	0.94253	GCT	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254182.2		+	ENST00000349496.5	Missense_Mutation	SNP	3 : 41275096 - 41275096 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1094	180
HERC1	8925	broad.mit.edu	37	15	64019960	64019960	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64019960C>T	ENST00000443617.2	-	17	3319	c.3232G>A	c.(3232-3234)Gct>Act	p.A1078T		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1078					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AAAGGCCGAGCCACTGACACA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	70	70			NA	NA	15		NA											NA				64019960		1932	4153	6085	SO:0001583	missense			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657	8925	8925		WD repeat domain containing	4867	protein-coding gene	gene with protein product		605109	hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1		NA	8861955, 9233772	Standard	NM_003922	NM_003922	NA	Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.3232G>A	15.37:g.64019960C>T	ENSP00000390158:p.Ala1078Thr	NA	Q8IW65	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857267	0.71834	.	.	ENSG00000103657	ENST00000443617	T	0.41758	0.99	5.39	5.39	0.77823	.	0.000000	0.64402	U	0.000001	T	0.27731	0.0682	N	0.12182	0.205	0.80722	D	1	P	0.43750	0.816	B	0.39068	0.289	T	0.05517	-1.0880	10	0.19147	T	0.46	.	19.151	0.93488	0.0:1.0:0.0:0.0	.	1078	Q15751	HERC1_HUMAN	T	1078	ENSP00000390158:A1078T	ENSP00000390158:A1078T	A	-	1	0	HERC1	61807013	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.528000	0.85240	0.655000	0.94253	GCT	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418523.1		-	ENST00000443617.2	Missense_Mutation	SNP	15 : 64019960 - 64019960 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	33
TTC9	23508	broad.mit.edu	37	14	71109141	71109141	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71109141C>T	ENST00000256367.2	+	1	638	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W		NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	99							binding			skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		GGAACGGGAGCGGGACTCGCG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													8	9	9			NA	NA	14		NA											NA				71109141		1805	3996	5801	SO:0001583	missense			D86980	CCDS45132.1	14q24.2	2014-08-12			ENSG00000133985		23508	23508		Tetratricopeptide (TTC) repeat domain containing	20267	protein-coding gene	gene with protein product		610488			NA		Standard	XM_027236	NM_015351	NA	Approved	KIAA0227, TTC9A	uc001xmi.2	Q92623	OTTHUMG00000172133	ENST00000256367.2:c.295C>T	14.37:g.71109141C>T	ENSP00000256367:p.Arg99Trp	NA	Q86WT2	37	CCDS45132.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.327117	0.41197	.	.	ENSG00000133985	ENST00000256367	T	0.18657	2.2	4.08	2.0	0.26442	Tetratricopeptide-like helical (1);	1.444650	0.04344	N	0.354604	T	0.26304	0.0642	L	0.34521	1.04	0.20403	N	0.999902	D	0.63880	0.993	P	0.50352	0.638	T	0.31613	-0.9937	10	0.66056	D	0.02	-7.537	9.1798	0.37134	0.2773:0.5867:0.136:0.0	.	99	Q92623	TTC9A_HUMAN	W	99	ENSP00000256367:R99W	ENSP00000256367:R99W	R	+	1	2	TTC9	70178894	0.963000	0.33076	0.984000	0.44739	0.193000	0.23685	0.935000	0.28924	1.029000	0.39812	0.555000	0.69702	CGG	TTC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417024.1		+	ENST00000256367.2	Missense_Mutation	SNP	14 : 71109141 - 71109141 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	70	13
RYR1	6261	broad.mit.edu	37	19	38996982	38996982	+	Missense_Mutation	SNP	G	G	A	rs138647599		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38996982G>A	ENST00000355481.4	+	55	8712	c.8581G>A	c.(8581-8583)Gac>Aac	p.D2861N	RYR1_ENST00000359596.3_Missense_Mutation_p.D2861N|RYR1_ENST00000360985.3_Missense_Mutation_p.D2861N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2861	6 X approximate repeats.				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)	TCAGCCCCCCGACCTTAGTGC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	58	57	57		8581,8581	3.5	1	19	dbSNP_134	57	0,8600		0,0,4300	no	missense,missense	RYR1	NM_000540.2,NM_001042723.1	23,23	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	2861/5039,2861/5034	38996982	1,13005	2203	4300	6503	SO:0001583	missense			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218	6261	6261		Ion channels / Ryanodine receptors	10483	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 137	180901	central core disease of muscle	MHS, MHS1, CCO	NA	1862346, 16621918	Standard		NM_000540	NA	Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000355481.4:c.8581G>A	19.37:g.38996982G>A	ENSP00000347667:p.Asp2861Asn	NA	Q16314|Q16368|Q9NPK1|Q9P1U4	37	CCDS42563.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.862678	0.51482	2.27E-4	0.0	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.94000	-3.33;-3.33;-3.33	3.47	3.47	0.39725	Ryanodine receptor Ryr (1);	0.000000	0.64402	U	0.000003	D	0.96059	0.8716	M	0.79475	2.455	0.49389	D	0.999782	D;B	0.67145	0.996;0.171	D;B	0.71870	0.975;0.009	D	0.96570	0.9422	10	0.87932	D	0	.	14.2529	0.66031	0.0:0.0:1.0:0.0	.	2861;2861	P21817-2;P21817	.;RYR1_HUMAN	N	2861	ENSP00000352608:D2861N;ENSP00000347667:D2861N;ENSP00000354254:D2861N	ENSP00000347667:D2861N	D	+	1	0	RYR1	43688822	1.000000	0.71417	0.985000	0.45067	0.455000	0.32408	7.250000	0.78287	1.952000	0.56665	0.305000	0.20034	GAC	RYR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461017.2		+	ENST00000355481.4	Missense_Mutation	SNP	19 : 38996982 - 38996982 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	448	73
PCSK5	5125	broad.mit.edu	37	9	78973444	78973444	+	Missense_Mutation	SNP	G	G	A	rs141281372	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:78973444G>A	ENST00000545128.1	+	37	5727	c.5189G>A	c.(5188-5190)cGa>cAa	p.R1730Q		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGCATCCTTCGAACAAGCAAG	0.458		NA											G	4	0.0018	0.01	NA	2184	NA	0.9996	,	,	NA	3e-04	0.0013	NA	NA	0.0018	0.9134	LOWCOV	NA	NA	4e-04	SNP								NA				0								G	GLN/ARG	10,1742		0,10,866	98	87	90		5189	-1	0	9	dbSNP_134	90	0,3982		0,0,1991	yes	missense	PCSK5	NM_001190482.1	43	0,10,2857	AA,AG,GG	NA	0.0,0.5708,0.1744	benign	1730/1861	78973444	10,5724	876	1991	2867	SO:0001583	missense				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139	5125	5125			8747	protein-coding gene	gene with protein product		600488			NA	7782070	Standard		NM_001190482	NA	Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.5189G>A	9.37:g.78973444G>A	ENSP00000446280:p.Arg1730Gln	NA	Q13527|Q96EP4	37	CCDS55320.1	4	0.0018315018315018315	3	0.006097560975609756	0	0.0	0	0.0	1	0.0013192612137203166	G	8.128	0.782376	0.16189	0.005708	0.0	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000424854	T;T	0.47177	0.85;1.7	5.88	-1.04	0.10068	.	1.053850	0.07439	N	0.896912	T	0.18882	0.0453	N	0.16307	0.4	0.09310	N	1	.	.	.	.	.	.	T	0.17561	-1.0365	8	0.11794	T	0.64	2.0E-4	5.9035	0.18980	0.3566:0.2857:0.3577:0.0	.	.	.	.	Q	1730;1460;1430	ENSP00000446280:R1730Q;ENSP00000411654:R1430Q	ENSP00000365945:R1460Q	R	+	2	0	PCSK5	78163264	0.000000	0.05858	0.005000	0.12908	0.100000	0.18952	0.025000	0.13577	-0.510000	0.06523	-0.266000	0.10368	CGA	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding			+	ENST00000545128.1	Missense_Mutation	SNP	9 : 78973444 - 78973444 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	275	56
ZNF365	22891	broad.mit.edu	37	10	64159483	64159483	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64159483C>T	ENST00000395254.3	+	5	1439	c.1159C>T	c.(1159-1161)Cgc>Tgc	p.R387C	ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000395255.3_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGGGTTTGGCCGCAAAGGCAA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	57	58			NA	NA	10		NA											NA				64159483		2203	4300	6503	SO:0001583	missense			AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311	22891	22891		Zinc fingers, C2H2-type	18194	protein-coding gene	gene with protein product	Talanin	607818			NA	10048485, 12740763	Standard	NM_014951	NM_199450	NA	Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.1159C>T	10.37:g.64159483C>T	ENSP00000378674:p.Arg387Cys	NA		37	CCDS31209.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508291	0.85282	.	.	ENSG00000138311	ENST00000395254	T	0.63417	-0.04	5.82	5.82	0.92795	.	.	.	.	.	T	0.78033	0.4220	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.78959	-0.1998	9	0.87932	D	0	.	17.8822	0.88843	0.0:1.0:0.0:0.0	.	387;402	Q70YC5;Q70YC5-4	ZN365_HUMAN;.	C	387	ENSP00000378674:R387C	ENSP00000378674:R387C	R	+	1	0	ZNF365	63829489	0.968000	0.33430	0.996000	0.52242	0.905000	0.53344	0.835000	0.27531	2.745000	0.94114	0.655000	0.94253	CGC	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048238.2		+	ENST00000395254.3	Missense_Mutation	SNP	10 : 64159483 - 64159483 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	381	72
MRGPRD	116512	broad.mit.edu	37	11	68747857	68747857	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68747857G>A	ENST00000309106.3	-	1	598	c.599C>T	c.(598-600)aCc>aTc	p.T200I		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	200						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GACAAAGAGGGTCAGGCTGGA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	44	45			NA	NA	11		NA											NA				68747857		2200	4294	6494	SO:0001583	missense			AB083627	CCDS31625.1	11q13.3	2012-08-21			ENSG00000172938	ENSG00000172938	116512	116512		GPCR / Class A : Orphans	29626	protein-coding gene	gene with protein product		607231			NA	11551509, 12909716	Standard	NM_198923	NM_198923	NA	Approved	mrgD	uc010rqf.2	Q8TDS7	OTTHUMG00000167896	ENST00000309106.3:c.599C>T	11.37:g.68747857G>A	ENSP00000310631:p.Thr200Ile	NA	Q8NGK7	37	CCDS31625.1	.	.	.	.	.	.	.	.	.	.	G	6.465	0.453938	0.12283	.	.	ENSG00000172938	ENST00000309106	T	0.36340	1.26	4.87	-4.03	0.04021	GPCR, rhodopsin-like superfamily (1);	0.859950	0.09799	N	0.754331	T	0.18676	0.0448	N	0.21373	0.66	0.09310	N	1	B	0.27951	0.195	B	0.28916	0.096	T	0.34054	-0.9844	10	0.14252	T	0.57	-7.9404	7.0439	0.25035	0.6781:0.0:0.1932:0.1287	.	200	Q8TDS7	MRGRD_HUMAN	I	200	ENSP00000310631:T200I	ENSP00000310631:T200I	T	-	2	0	MRGPRD	68504433	0.000000	0.05858	0.000000	0.03702	0.181000	0.23173	-1.983000	0.01488	-0.471000	0.06891	0.460000	0.39030	ACC	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396874.1		-	ENST00000309106.3	Missense_Mutation	SNP	11 : 68747857 - 68747857 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	183	29
ERN2	10595	broad.mit.edu	37	16	23713497	23713497	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23713497G>T	ENST00000457008.2	-	11	1217	c.1179C>A	c.(1177-1179)acC>acA	p.T393T	ERN2_ENST00000256797.4_Silent_p.T441T			Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	393					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CTGGGGCCTGGGTATTCTCTG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	72	71			NA	NA	16		NA											NA				23713497		2197	4300	6497	SO:0001819	synonymous_variant			AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398	10595	10595			16942	protein-coding gene	gene with protein product		604034	ER to nucleus signalling 2		NA	9755171, 11175748	Standard		NM_033266	NA	Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.1179C>A	16.37:g.23713497G>T		NA	Q6ZNC0	37																																																																																				ERN2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000434886.1		-	ENST00000457008.2	Silent	SNP	16 : 23713497 - 23713497 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	613	106
SIPA1L2	57568	broad.mit.edu	37	1	232534934	232534934	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232534934G>A	ENST00000366630.1	-	22	5466	c.5108C>T	c.(5107-5109)gCg>gTg	p.A1703V	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.A1703V|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.A759V			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1703					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTGAGCTGTCGCGGTCTGGGA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	124	124			NA	NA	1		NA											NA				232534934		2091	4251	6342	SO:0001583	missense			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991	57568	57568			23800	protein-coding gene	gene with protein product		611609			NA		Standard	XM_045839	NM_020808	NA	Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.5108C>T	1.37:g.232534934G>A	ENSP00000355589:p.Ala1703Val	NA	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	37	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585424	0.86748	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	D;D;T	0.88818	-2.43;-2.43;1.47	4.99	4.07	0.47477	.	0.000000	0.85682	D	0.000000	D	0.94509	0.8232	M	0.83953	2.67	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	D	0.95329	0.8428	10	0.87932	D	0	-32.8176	15.5869	0.76491	0.0:0.1381:0.8619:0.0	.	1703;759	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	V	1703;1703;759	ENSP00000355589:A1703V;ENSP00000262861:A1703V;ENSP00000309102:A759V	ENSP00000262861:A1703V	A	-	2	0	SIPA1L2	230601557	1.000000	0.71417	0.082000	0.20525	0.806000	0.45545	9.653000	0.98506	1.319000	0.45190	0.460000	0.39030	GCG	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092318.1		-	ENST00000366630.1	Missense_Mutation	SNP	1 : 232534934 - 232534934 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	314	87
ZFHX4	79776	broad.mit.edu	37	8	77763508	77763508	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77763508C>A	ENST00000521891.2	+	10	4799	c.4351C>A	c.(4351-4353)Ctg>Atg	p.L1451M	ZFHX4_ENST00000050961.6_Missense_Mutation_p.L1406M|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L1406M|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L1425M	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1406						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCACCCTGAACTGAGTGAAGC	0.502		NA								HNSCC(33;0.089)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	41	41			NA	NA	8		NA											NA				77763508		1984	4159	6143	SO:0001583	missense				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656	79776	79776		Homeoboxes / ZF class	30939	protein-coding gene	gene with protein product		606940	zinc finger homeodomain 4		NA	10873665, 11935336	Standard	NM_024721	NM_024721	NA	Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4351C>A	8.37:g.77763508C>A	ENSP00000430497:p.Leu1451Met	NA	Q18PS0|Q6ZN20	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	13.19	2.161838	0.38217	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.56275	0.48;0.52;0.47;0.49	5.01	3.12	0.35913	Zinc finger, C2H2 (1);	0.000000	0.35615	U	0.003097	T	0.62466	0.2430	L	0.50333	1.59	0.48901	D	0.999721	D;D;D	0.76494	0.989;0.999;0.994	P;D;P	0.66979	0.786;0.948;0.894	T	0.64972	-0.6281	10	0.72032	D	0.01	.	10.7432	0.46166	0.0:0.7962:0.1309:0.0729	.	1406;1406;1451	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	M	1451;1451;1406;1406;1425	ENSP00000430497:L1451M;ENSP00000399605:L1406M;ENSP00000050961:L1406M;ENSP00000430848:L1425M	ENSP00000050961:L1406M	L	+	1	2	ZFHX4	77926063	1.000000	0.71417	0.977000	0.42913	0.822000	0.46500	5.927000	0.70080	1.313000	0.45069	0.549000	0.68633	CTG	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379197.2		+	ENST00000521891.2	Missense_Mutation	SNP	8 : 77763508 - 77763508 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	151	33
ABCA4	24	broad.mit.edu	37	1	94512539	94512539	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94512539T>C	ENST00000370225.3	-	19	2940	c.2854A>G	c.(2854-2856)Acc>Gcc	p.T952A	ABCA4_ENST00000535735.1_Missense_Mutation_p.T878A	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	952	ABC transporter 1.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCGTAGAAGGTGATGTTCAGA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	157	156			NA	NA	1		NA											NA				94512539		2203	4300	6503	SO:0001583	missense			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691	24	24		ATP binding cassette transporters / subfamily A	34	protein-coding gene	gene with protein product	Stargardt disease	601691	ATP-binding cassette transporter, retinal-specific	STGD1, ABCR, RP19, STGD	NA	9490294	Standard	NM_000350	NM_000350	NA	Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2854A>G	1.37:g.94512539T>C	ENSP00000359245:p.Thr952Ala	NA	O15112|O60438|O60915|Q4LE31	37	CCDS747.1	.	.	.	.	.	.	.	.	.	.	T	18.71	3.682285	0.68042	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.94092	-3.35;-2.87	5.62	5.62	0.85841	ABC transporter-like (1);	0.193028	0.56097	D	0.000039	D	0.84120	0.5402	N	0.21142	0.635	0.28085	N	0.932033	B;B	0.33940	0.433;0.001	B;B	0.35182	0.197;0.006	T	0.82200	-0.0575	10	0.72032	D	0.01	.	15.8271	0.78718	0.0:0.0:0.0:1.0	.	878;952	F5H6E5;P78363	.;ABCA4_HUMAN	A	952;878	ENSP00000359245:T952A;ENSP00000437682:T878A	ENSP00000359245:T952A	T	-	1	0	ABCA4	94285127	1.000000	0.71417	0.992000	0.48379	0.887000	0.51463	6.148000	0.71788	2.149000	0.67028	0.533000	0.62120	ACC	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029320.1		-	ENST00000370225.3	Missense_Mutation	SNP	1 : 94512539 - 94512539 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	798	88
PTPRB	5787	broad.mit.edu	37	12	70980889	70980889	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70980889C>T	ENST00000550358.1	-	9	2234	c.2209G>A	c.(2209-2211)Gaa>Aaa	p.E737K	PTPRB_ENST00000551525.1_Missense_Mutation_p.E736K|PTPRB_ENST00000538708.1_Missense_Mutation_p.E519K|PTPRB_ENST00000451516.2_Missense_Mutation_p.E429K|PTPRB_ENST00000334414.6_Missense_Mutation_p.E737K|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000261266.5_Missense_Mutation_p.E519K|PTPRB_ENST00000550857.1_Missense_Mutation_p.E429K			P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	607	Fibronectin type-III 9.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AAAGTGAATTCTTTGGCATCT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	130	133			NA	NA	12		NA											NA				70980889		1906	4122	6028	SO:0001583	missense			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11					NA	5787		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing	9665	protein-coding gene	gene with protein product		176882		PTPB	NA	2169617	Standard		NM_001109754	NA	Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000550358.1:c.2209G>A	12.37:g.70980889C>T	ENSP00000448058:p.Glu737Lys	NA	B7ZKT0|C9JX87|Q14D85|Q3MIV7	37		.	.	.	.	.	.	.	.	.	.	C	16.39	3.109322	0.56398	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39	5.12	5.12	0.69794	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.052530	0.64402	D	0.000001	T	0.73628	0.3611	M	0.79926	2.475	0.58432	D	0.999998	D;D;P;D;D;D;D	0.76494	0.996;0.996;0.921;0.989;0.995;0.996;0.999	D;D;P;D;D;D;D	0.70935	0.947;0.947;0.845;0.92;0.911;0.947;0.971	T	0.73717	-0.3895	10	0.35671	T	0.21	.	18.5628	0.91107	0.0:1.0:0.0:0.0	.	429;519;616;736;737;519;737	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	K	737;429;737;737;519;429;519;736;616	ENSP00000334928:E737K;ENSP00000393028:E429K;ENSP00000448058:E737K;ENSP00000438927:E519K;ENSP00000447302:E429K;ENSP00000261266:E519K;ENSP00000448349:E736K;ENSP00000446982:E616K	ENSP00000261266:E519K	E	-	1	0	PTPRB	69267156	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.273000	0.72581	2.368000	0.80403	0.557000	0.71058	GAA	PTPRB-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000404436.1		-	ENST00000550358.1	Missense_Mutation	SNP	12 : 70980889 - 70980889 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	68
SPOCK3	50859	broad.mit.edu	37	4	167921568	167921568	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:167921568G>A	ENST00000357154.3	-	5	428	c.291C>T	c.(289-291)cgC>cgT	p.R97R	SPOCK3_ENST00000512648.1_Silent_p.R94R|SPOCK3_ENST00000510741.1_Silent_p.R94R|SPOCK3_ENST00000511531.1_Silent_p.R97R|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000541354.1_Intron|SPOCK3_ENST00000357545.4_Silent_p.R94R|SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000421836.2_Silent_p.R46R|SPOCK3_ENST00000534949.1_Intron|SPOCK3_ENST00000511269.1_Silent_p.R94R|SPOCK3_ENST00000535728.1_Silent_p.R5R|SPOCK3_ENST00000506886.1_Silent_p.R97R|SPOCK3_ENST00000504953.1_Silent_p.R94R|SPOCK3_ENST00000502330.1_Silent_p.R97R	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	97					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		ATACTTTATGGCGACTACATT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	132	134			NA	NA	4		NA											NA				167921568		2203	4300	6503	SO:0001819	synonymous_variant			AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104	50859	50859			13565	protein-coding gene	gene with protein product		607989			NA	11751414	Standard		NM_001204352	NA	Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.291C>T	4.37:g.167921568G>A		NA	B2R7M7|B3KR67|O75705|Q6UW53|Q96Q26	37	CCDS54817.1																																																																																			SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364091.1		-	ENST00000357154.3	Silent	SNP	4 : 167921568 - 167921568 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	610	90
FAT2	2196	broad.mit.edu	37	5	150925264	150925264	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150925264C>A	ENST00000261800.5	-	9	5436	c.5424G>T	c.(5422-5424)gaG>gaT	p.E1808D		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1808	Cadherin 16.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTTCAAGGCCTCCGGCTCCA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	56	55			NA	NA	5		NA											NA				150925264		2202	4300	6502	SO:0001583	missense			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570	2196	2196		Cadherins / Cadherin-related	3596	protein-coding gene	gene with protein product	cadherin-related family member 9	604269	FAT tumor suppressor (Drosophila) homolog 2, FAT tumor suppressor homolog 2 (Drosophila)		NA	9693030	Standard	NM_001447	NM_001447	NA	Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.5424G>T	5.37:g.150925264C>A	ENSP00000261800:p.Glu1808Asp	NA	O75091|Q9NSR7	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.492075	0.26774	.	.	ENSG00000086570	ENST00000261800	T	0.59083	0.29	5.25	0.888	0.19206	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000017	T	0.58090	0.2098	L	0.33624	1.015	0.33432	D	0.581211	D	0.76494	0.999	D	0.72075	0.976	T	0.60469	-0.7257	10	0.11485	T	0.65	.	11.0364	0.47804	0.0:0.5115:0.0:0.4885	.	1808	Q9NYQ8	FAT2_HUMAN	D	1808	ENSP00000261800:E1808D	ENSP00000261800:E1808D	E	-	3	2	FAT2	150905457	0.922000	0.31269	0.215000	0.23724	0.968000	0.65278	0.106000	0.15354	-0.076000	0.12775	0.467000	0.42956	GAG	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252434.1		-	ENST00000261800.5	Missense_Mutation	SNP	5 : 150925264 - 150925264 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	547	121
TRIB2	28951	broad.mit.edu	37	2	12880819	12880819	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:12880819G>A	ENST00000155926.4	+	3	2350	c.931G>A	c.(931-933)Gat>Aat	p.D311N	TRIB2_ENST00000381465.2_Missense_Mutation_p.D175N	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	311					negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTTTTCTACAGATTTTAGCGT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	67	67			NA	NA	2		NA											NA				12880819		2203	4300	6503	SO:0001583	missense			AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575	28951	28951			30809	protein-coding gene	gene with protein product		609462	tribbles homolog 2 (Drosophila)		NA	12736262, 17097562, 16715410	Standard	NM_021643	NM_021643	NA	Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000155926.4:c.931G>A	2.37:g.12880819G>A	ENSP00000155926:p.Asp311Asn	NA	B2R851|D6W510	37	CCDS1683.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312466	0.40895	.	.	ENSG00000071575	ENST00000155926;ENST00000381465	T;T	0.48836	0.82;0.8	5.94	5.94	0.96194	Protein kinase-like domain (1);	0.212067	0.49916	D	0.000128	T	0.33847	0.0877	N	0.12182	0.205	0.80722	D	1	B	0.11235	0.004	B	0.09377	0.004	T	0.07290	-1.0780	10	0.27785	T	0.31	-21.7034	19.354	0.94404	0.0:0.0:1.0:0.0	.	311	Q92519	TRIB2_HUMAN	N	311;175	ENSP00000155926:D311N;ENSP00000370874:D175N	ENSP00000155926:D311N	D	+	1	0	TRIB2	12798270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.573000	0.82421	2.820000	0.97059	0.650000	0.86243	GAT	TRIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207114.2		+	ENST00000155926.4	Missense_Mutation	SNP	2 : 12880819 - 12880819 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	91
EZH2	2146	broad.mit.edu	37	7	148511157	148511157	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148511157A>G	ENST00000320356.2	-	15	1866	c.1745T>C	c.(1744-1746)gTc>gCc	p.V582A	EZH2_ENST00000350995.2_Missense_Mutation_p.V538A|EZH2_ENST00000483967.1_Missense_Mutation_p.V568A|EZH2_ENST00000460911.1_Missense_Mutation_p.V577A|EZH2_ENST00000478654.1_Missense_Mutation_p.V526A|EZH2_ENST00000541220.1_Missense_Mutation_p.V526A|EZH2_ENST00000476773.1_Missense_Mutation_p.V526A	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	577	Cys-rich.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ACACTCTCGGACAGCCAGGTA	0.547		NA	Mis		DLBCL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	0													177	162	167			NA	NA	7		NA											NA				148511157		2203	4300	6503	SO:0001583	missense				CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462	2146	2146		Chromatin-modifying enzymes / K-methyltransferases	3527	protein-coding gene	gene with protein product		601573	enhancer of zeste (Drosophila) homolog 2, enhancer of zeste homolog 2 (Drosophila)		NA	8954776, 17172412	Standard	NM_004456	NM_152998	NA	Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000320356.2:c.1745T>C	7.37:g.148511157A>G	ENSP00000320147:p.Val582Ala	NA	B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q92857|Q96FI6	37	CCDS5891.1	.	.	.	.	.	.	.	.	.	.	a	20.4	3.977289	0.74360	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	D;T;T;T;D;D;T	0.89746	-2.56;-1.29;-1.29;-1.29;-2.56;-2.56;-1.29	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.86560	0.5962	L	0.58302	1.8	0.80722	D	1	B;B;P;P;B	0.36944	0.19;0.295;0.574;0.566;0.3	B;B;B;B;B	0.40825	0.172;0.28;0.297;0.341;0.154	D	0.83610	0.0133	10	0.05721	T	0.95	.	15.3083	0.74011	1.0:0.0:0.0:0.0	.	568;526;577;538;582	Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;EZH2_HUMAN;.;.	A	526;582;577;538;526;526;568	ENSP00000417062:V526A;ENSP00000320147:V582A;ENSP00000419711:V577A;ENSP00000223193:V538A;ENSP00000443219:V526A;ENSP00000419050:V526A;ENSP00000419856:V568A	ENSP00000320147:V582A	V	-	2	0	EZH2	148142090	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	9.042000	0.93793	2.010000	0.58986	0.460000	0.39030	GTC	EZH2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352740.1		-	ENST00000320356.2	Missense_Mutation	SNP	7 : 148511157 - 148511157 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	694	50
SNAP23	8773	broad.mit.edu	37	15	42822003	42822003	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42822003C>T	ENST00000564153.1	+	6	360				SNAP23_ENST00000397138.1_Nonsense_Mutation_p.R133*|SNAP23_ENST00000249647.3_Nonsense_Mutation_p.R186*|SNAP23_ENST00000349777.1_Nonsense_Mutation_p.R133*			O00161	SNP23_HUMAN	synaptosomal-associated protein, 23kDa	NA					cellular membrane fusion|post-Golgi vesicle-mediated transport|protein transport|vesicle targeting	azurophil granule|cell junction|Golgi apparatus|nucleus|plasma membrane enriched fraction|specific granule|synapse|synaptosome	protein binding			large_intestine(1)|lung(1)	2		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;2.62e-06)		ACAAATAAAACGAATCACAGA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	96	98			NA	NA	15		NA											NA				42822003		2203	4299	6502	SO:0001627	intron_variant			Y09567	CCDS10087.1, CCDS10088.1	15q14	2004-01-19	2002-08-29		ENSG00000092531	ENSG00000092531	8773	8773			11131	protein-coding gene	gene with protein product		602534	synaptosomal-associated protein, 23kD		NA	9070898, 8663154	Standard	NM_003825	NM_003825	NA	Approved	SNAP23A, SNAP23B, HsT17016	uc001zpz.2	O00161	OTTHUMG00000130625	ENST00000564153.1:c.267-1608C>T	15.37:g.42822003C>T		NA	O00162|Q13602|Q6IAE3	37		.	.	.	.	.	.	.	.	.	.	C	2.570	-0.299903	0.05532	.	.	ENSG00000092531	ENST00000249647;ENST00000349777;ENST00000397138	.	.	.	5.64	1.16	0.20824	.	0.507597	0.22362	N	0.061079	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4173	9.2908	0.37786	0.3635:0.5694:0.0:0.0672	.	.	.	.	X	186;133;133	.	ENSP00000249647:R186X	R	+	1	2	SNAP23	40609295	0.594000	0.26849	0.002000	0.10522	0.213000	0.24496	1.417000	0.34770	0.334000	0.23590	0.655000	0.94253	CGA	SNAP23-008	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000423107.1		+	ENST00000564153.1	Intron	SNP	15 : 42822003 - 42822003 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	66
CRMP1	1400	broad.mit.edu	37	4	5857930	5857930	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5857930C>T	ENST00000512574.1	-	4	945	c.412G>A	c.(412-414)Gac>Aac	p.D138N	CRMP1_ENST00000397890.2_Missense_Mutation_p.D140N|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000324989.7_Missense_Mutation_p.D254N			Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	140					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CTTGTGATGTCCACGTGGAGG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	103	109			NA	NA	4		NA											NA				5857930		2203	4300	6503	SO:0001583	missense			D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832	1400	1400			2365	protein-coding gene	gene with protein product		602462			NA	8973361	Standard	NM_001313	XM_005247940	NA	Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000512574.1:c.412G>A	4.37:g.5857930C>T	ENSP00000425742:p.Asp138Asn	NA	Q13024|Q4W5F1|Q96TC8	37		.	.	.	.	.	.	.	.	.	.	c	18.20	3.571960	0.65765	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.90004	-2.6;-2.6;-2.6	3.09	3.09	0.35607	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.92557	0.7636	M	0.64676	1.99	0.51233	D	0.999913	B;B;B;D	0.89917	0.34;0.447;0.226;1.0	B;B;B;D	0.97110	0.232;0.186;0.132;1.0	D	0.92602	0.6092	10	0.52906	T	0.07	-26.4066	13.358	0.60640	0.0:1.0:0.0:0.0	.	254;138;140;77	A0EJG6;E9PD68;Q14194;B3KT07	.;.;DPYL1_HUMAN;.	N	254;140;140;138	ENSP00000321606:D254N;ENSP00000380987:D140N;ENSP00000425742:D138N	ENSP00000321606:D254N	D	-	1	0	CRMP1	5908831	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.118000	0.77137	1.577000	0.49804	0.537000	0.68136	GAC	CRMP1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000358870.1		-	ENST00000512574.1	Missense_Mutation	SNP	4 : 5857930 - 5857930 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	64
PANK4	55229	broad.mit.edu	37	1	2452547	2452547	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2452547G>A	ENST00000378466.3	-	3	427	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	PANK4_ENST00000435556.3_Intron	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	139					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CACTTCAGCCGCAGCTTCTCT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	80	82			NA	NA	1		NA											NA				2452547		2203	4300	6503	SO:0001583	missense			AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881	55229	55229			19366	protein-coding gene	gene with protein product		606162			NA	11479594	Standard		XR_241034	NA	Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.415C>T	1.37:g.2452547G>A	ENSP00000367727:p.Arg139Trp	NA	B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	37	CCDS42.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225634	0.58668	.	.	ENSG00000157881	ENST00000378466	D	0.99527	-6.09	5.05	3.15	0.36227	.	1.063610	0.07258	N	0.866933	D	0.98273	0.9428	N	0.24115	0.695	0.80722	D	1	D	0.56968	0.978	P	0.49301	0.606	D	0.93676	0.6994	10	0.87932	D	0	-7.9242	10.0179	0.42024	0.0:0.4167:0.4491:0.1343	.	139	Q9NVE7	PANK4_HUMAN	W	139	ENSP00000367727:R139W	ENSP00000367727:R139W	R	-	1	2	PANK4	2442407	0.112000	0.22096	0.637000	0.29366	0.859000	0.49053	2.617000	0.46385	0.510000	0.28216	-0.261000	0.10672	CGG	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000002082.1		-	ENST00000378466.3	Missense_Mutation	SNP	1 : 2452547 - 2452547 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	516	56
PHF17	0	broad.mit.edu	37	4	129783239	129783239	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:129783239G>A	ENST00000226319.6	+	9	1642	c.1362G>A	c.(1360-1362)tgG>tgA	p.W454*	PHF17_ENST00000512960.1_Nonsense_Mutation_p.W454*|PHF17_ENST00000452328.2_Nonsense_Mutation_p.W442*|PHF17_ENST00000413543.2_Nonsense_Mutation_p.W454*|PHF17_ENST00000511647.1_Nonsense_Mutation_p.W454*	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN		454					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						ACCAGTACTGGAAGTTGAAGA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	97	98			NA	NA	4		NA											NA				129783239		2203	4300	6503	SO:0001587	stop_gained											NA	NA			NA							NA					NA						ENST00000226319.6:c.1362G>A	4.37:g.129783239G>A	ENSP00000226319:p.Trp454*	NA	D3DNY0|D3DNY1|Q4W5D5|Q6ZSL7|Q8NC41|Q96JL8|Q96SQ1|Q9H692	37	CCDS34062.1	.	.	.	.	.	.	.	.	.	.	G	36	5.869016	0.97049	.	.	ENSG00000077684	ENST00000226319;ENST00000511647;ENST00000452328;ENST00000512960;ENST00000535321;ENST00000413543	.	.	.	5.01	4.17	0.49024	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2619	0.60111	0.076:0.0:0.924:0.0	.	.	.	.	X	454;454;442;454;454;454	.	.	W	+	3	0	PHF17	130002689	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.901000	0.92560	1.347000	0.45714	0.655000	0.94253	TGG	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364280.1		+	ENST00000226319.6	Nonsense_Mutation	SNP	4 : 129783239 - 129783239 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	502	112
TBC1D2B	23102	broad.mit.edu	37	15	78305387	78305387	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78305387A>C	ENST00000409931.3	-	9	2119	c.2048T>G	c.(2047-2049)tTc>tGc	p.F683C	TBC1D2B_ENST00000300584.3_Missense_Mutation_p.F683C			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	683	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTTGTCCTTGAACTTCCTGGT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	97	107			NA	NA	15		NA											NA				78305387		2196	4293	6489	SO:0001583	missense			AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202	23102	23102			29183	protein-coding gene	gene with protein product					NA	10470851	Standard	NM_015079	NM_015079	NA	Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000409931.3:c.2048T>G	15.37:g.78305387A>C	ENSP00000387165:p.Phe683Cys	NA	A7MD42|Q8N1F9|Q9NXM0	37	CCDS32301.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.32|16.32	3.089766|3.089766	0.55968|0.55968	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000409931;ENST00000300584|ENST00000418039	T;T|.	0.11495|.	2.77;2.77|.	5.47|5.47	5.47|5.47	0.80525|0.80525	Rab-GAP/TBC domain (4);|.	0.207578|.	0.51477|.	D|.	0.000086|.	T|T	0.59729|0.59729	0.2215|0.2215	L|L	0.41492|0.41492	1.28|1.28	0.48511|0.48511	D|D	0.999667|0.999667	D;P;D|.	0.63880|.	0.992;0.88;0.993|.	P;P;P|.	0.60173|.	0.794;0.694;0.87|.	T|T	0.56601|0.56601	-0.7952|-0.7952	10|5	0.56958|.	D|.	0.05|.	.|.	15.0304|15.0304	0.71701|0.71701	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	683;135;683|.	Q9UPU7-2;Q9UPU7-3;Q9UPU7|.	.;.;TBD2B_HUMAN|.	C|A	683|565	ENSP00000387165:F683C;ENSP00000300584:F683C|.	ENSP00000300584:F683C|.	F|S	-|-	2|1	0|0	TBC1D2B|TBC1D2B	76092442|76092442	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.296000|0.296000	0.27459|0.27459	5.797000|5.797000	0.69087|0.69087	2.199000|2.199000	0.70637|0.70637	0.533000|0.533000	0.62120|0.62120	TTC|TCA	TBC1D2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328367.1		-	ENST00000409931.3	Missense_Mutation	SNP	15 : 78305387 - 78305387 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	199	31
CD163L1	283316	broad.mit.edu	37	12	7531634	7531634	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7531634G>A	ENST00000416109.2	-	9	2359	c.2341C>T	c.(2341-2343)Cga>Tga	p.R781*	CD163L1_ENST00000313599.3_Nonsense_Mutation_p.R771*|CD163L1_ENST00000396630.1_Nonsense_Mutation_p.R771*|CD163L1_ENST00000544331.1_5'UTR	NM_174941.4	NP_777601.2	Q9NR16	C163B_HUMAN	CD163 molecule-like 1	771	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.R771*(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CACTCCCATCGTATACAATCC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Nonsense(1)	ovary(1)											72	72	72			NA	NA	12		NA											NA				7531634		2203	4300	6503	SO:0001587	stop_gained			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675	283316	283316			30375	protein-coding gene	gene with protein product		606079	CD163 antigen-like 1		NA	11124526, 11086079	Standard	NM_174941	XM_005253348	NA	Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000416109.2:c.2341C>T	12.37:g.7531634G>A	ENSP00000393474:p.Arg781*	NA	C9JHR7|Q6UWC2	37		.	.	.	.	.	.	.	.	.	.	G	31	5.076743	0.94000	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	.	.	.	1.82	-1.31	0.09230	.	3.403600	0.01971	U	0.044106	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	3.6624	0.08244	0.1909:0.0:0.4673:0.3418	.	.	.	.	X	771;781;771	.	ENSP00000315945:R771X	R	-	1	2	CD163L1	7422901	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.284000	0.08422	-0.315000	0.08703	0.455000	0.32223	CGA	CD163L1-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000399330.1		-	ENST00000416109.2	Nonsense_Mutation	SNP	12 : 7531634 - 7531634 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	498	100
ZZEF1	23140	broad.mit.edu	37	17	3966072	3966072	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3966072G>T	ENST00000381638.2	-	30	4982	c.4858C>A	c.(4858-4860)Ctg>Atg	p.L1620M		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1620							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TGACAGGTCAGAAGTTCCAAC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	42	42			NA	NA	17		NA											NA				3966072		2203	4300	6503	SO:0001583	missense			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755	23140	23140		Zinc fingers, ZZ-type, EF-hand domain containing	29027	protein-coding gene	gene with protein product			zinc finger, ZZ-type with EF hand domain 1		NA	9455477	Standard	NM_015113	XM_005256560	NA	Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.4858C>A	17.37:g.3966072G>T	ENSP00000371051:p.Leu1620Met	NA	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.738855	0.69304	.	.	ENSG00000074755	ENST00000381638	T	0.49139	0.79	5.66	3.68	0.42216	.	0.101413	0.48767	D	0.000168	T	0.63873	0.2548	M	0.64997	1.995	0.47245	D	0.99936	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65537	-0.6144	10	0.87932	D	0	-8.7289	11.9053	0.52708	0.1393:0.0:0.8607:0.0	.	1620;1620	O43149-2;O43149	.;ZZEF1_HUMAN	M	1620	ENSP00000371051:L1620M	ENSP00000371051:L1620M	L	-	1	2	ZZEF1	3912821	1.000000	0.71417	0.525000	0.27900	0.979000	0.70002	5.109000	0.64615	0.759000	0.33084	0.650000	0.86243	CTG	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207480.1		-	ENST00000381638.2	Missense_Mutation	SNP	17 : 3966072 - 3966072 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	101	22
FCGR1B	2210	broad.mit.edu	37	1	120930255	120930255	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120930255C>T	ENST00000369384.4	-	4	388	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	FCGR1B_ENST00000472543.1_5'UTR|FCGR1B_ENST00000369383.4_Missense_Mutation_p.E24K|RP11-439A17.10_ENST00000426275.1_RNA|RP11-439A17.9_ENST00000457996.1_RNA	NM_001017986.3	NP_001017986.1	Q92637	FCGRB_HUMAN	Fc fragment of IgG, high affinity Ib, receptor (CD64)	116	Ig-like C2-type 2.				interferon-gamma-mediated signaling pathway	integral to membrane|plasma membrane	IgG binding|immunoglobulin receptor activity			breast(1)|endometrium(1)|lung(2)	4	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)		GGTTCTCCTTCCATGAAGACT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	160	161			NA	NA	1		NA											NA				120930255		2203	4300	6503	SO:0001583	missense				CCDS72844.1, CCDS72845.1, CCDS72846.1	1p11.2	2013-01-11	2005-02-02		ENSG00000198019	ENSG00000198019	2210	2210		Immunoglobulin superfamily / Immunoglobulin-like domain containing	3614	protein-coding gene	gene with protein product		601502	Fc fragment of IgG, high affinity Ib, receptor for (CD64)		NA	8697799, 9763663	Standard		NM_001017986	NA	Approved	CD64b	uc001eip.3	Q92637	OTTHUMG00000040903	ENST00000369384.4:c.346G>A	1.37:g.120930255C>T	ENSP00000358391:p.Glu116Lys	NA	Q7KZ13|Q92638	37	CCDS30821.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.87|11.87	1.766223|1.766223	0.31228|0.31228	.|.	.|.	ENSG00000198019|ENSG00000198019	ENST00000369384;ENST00000369383|ENST00000369178	T;T|.	0.14766|.	2.48;2.48|.	2.16|2.16	2.16|2.16	0.27623|0.27623	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.52532|.	D|.	0.000080|.	T|T	0.48429|0.48429	0.1499|0.1499	M|M	0.86343|0.86343	2.81|2.81	0.28108|0.28108	N|N	0.931133|0.931133	D;D;D;D|.	0.89917|.	1.0;1.0;0.998;1.0|.	D;D;D;D|.	0.91635|.	0.998;0.999;0.97;0.999|.	T|T	0.40079|0.40079	-0.9582|-0.9582	10|5	0.87932|.	D|.	0|.	.|.	7.9331|7.9331	0.29914|0.29914	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	116;116;24;116|.	P12314-2;Q92637-2;Q92637-3;Q92637|.	.;.;.;FCGRB_HUMAN|.	K|E	116;24|100	ENSP00000358391:E116K;ENSP00000358390:E24K|.	ENSP00000358390:E24K|.	E|G	-|-	1|2	0|0	FCGR1B|FCGR1B	120731778|120731778	0.970000|0.970000	0.33590|0.33590	0.630000|0.630000	0.29268|0.29268	0.109000|0.109000	0.19521|0.19521	2.941000|2.941000	0.49011|0.49011	1.543000|1.543000	0.49345|0.49345	0.184000|0.184000	0.17185|0.17185	GAA|GGA	FCGR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000098241.1		-	ENST00000369384.4	Missense_Mutation	SNP	1 : 120930255 - 120930255 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	716	133
FZD7	8324	broad.mit.edu	37	2	202900483	202900483	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202900483C>T	ENST00000286201.1	+	1	1174	c.1113C>T	c.(1111-1113)caC>caT	p.H371H		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	371					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						AGTGGGGCCACGAGGCCATCG	0.627		NA									OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	67	67			NA	NA	2		NA											NA				202900483		2203	4300	6503	SO:0001819	synonymous_variant			AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760	8324	8324		GPCR / Class F : Frizzled receptors	4045	protein-coding gene	gene with protein product		603410	frizzled (Drosophila) homolog 7, frizzled homolog 7 (Drosophila), frizzled 7, seven transmembrane spanning receptor, frizzled family receptor 7		NA	9707618, 9813155	Standard	NM_003507	NM_003507	NA	Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.1113C>T	2.37:g.202900483C>T		2133	O94816|Q53S59|Q96B74	37	CCDS2351.1																																																																																			FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256314.1		+	ENST00000286201.1	Silent	SNP	2 : 202900483 - 202900483 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	403	16
SIN3A	25942	broad.mit.edu	37	15	75684652	75684652	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75684652G>A	ENST00000394947.3	-	15	3096	c.2782C>T	c.(2782-2784)Cgg>Tgg	p.R928W	SIN3A_ENST00000394949.4_Missense_Mutation_p.R928W|SIN3A_ENST00000360439.4_Missense_Mutation_p.R928W	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	928					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						AGCACTTCCCGTTCCCATTCT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													190	173	179			NA	NA	15		NA											NA				75684652		2197	4294	6491	SO:0001583	missense			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375	25942	25942			19353	protein-coding gene	gene with protein product		607776	SIN3 homolog A, transcription regulator (yeast), SIN3 transcription regulator homolog A (yeast)		NA	10773092, 7601471	Standard	NM_015477	NM_001145357	NA	Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.2782C>T	15.37:g.75684652G>A	ENSP00000378402:p.Arg928Trp	NA	B2RNS5|Q8N8N4|Q8NC83|Q8WV18|Q96L98|Q9UFQ1	37	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703670	0.68501	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.50001	0.76;0.76;0.76	5.6	4.68	0.58851	.	0.048289	0.85682	D	0.000000	T	0.66157	0.2761	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.69847	-0.5034	10	0.87932	D	0	-13.6199	12.4793	0.55833	0.0:0.0:0.5775:0.4225	.	928	Q96ST3	SIN3A_HUMAN	W	928	ENSP00000378402:R928W;ENSP00000378403:R928W;ENSP00000353622:R928W	ENSP00000353622:R928W	R	-	1	2	SIN3A	73471705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.062000	0.49971	1.362000	0.46000	0.655000	0.94253	CGG	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286469.1		-	ENST00000394947.3	Missense_Mutation	SNP	15 : 75684652 - 75684652 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	948	176
MTA1	9112	broad.mit.edu	37	14	105905013	105905013	+	Silent	SNP	C	C	T	rs148162904		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105905013C>T	ENST00000331320.7	+	2	247	c.33C>T	c.(31-33)taC>taT	p.Y11Y	MTA1_ENST00000406191.1_Silent_p.Y11Y|MTA1_ENST00000405646.1_Silent_p.Y11Y	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	11	BAH.				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Y11Y(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		TTGCAGACTACGTCTACTTTG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	endometrium(1)						C	,	1,4405	2.1+/-5.4	0,1,2202	151	149	149		33,33	-2.5	1	14	dbSNP_134	149	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MTA1	NM_001203258.1,NM_004689.3	,	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	,	11/431,11/716	105905013	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979	9112	9112		GATA zinc finger domain containing	7410	protein-coding gene	gene with protein product		603526			NA	8083195, 7607577	Standard		NM_004689	NA	Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.33C>T	14.37:g.105905013C>T		NA	A5PLK4|Q8NFI8|Q96GI8	37	CCDS32169.1																																																																																			MTA1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317849.15		+	ENST00000331320.7	Silent	SNP	14 : 105905013 - 105905013 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	877	207
MRTO4	51154	broad.mit.edu	37	1	19585280	19585280	+	Missense_Mutation	SNP	G	G	A	rs146948534		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19585280G>A	ENST00000330263.4	+	8	973	c.676G>A	c.(676-678)Gca>Aca	p.A226T		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	226					ribosome biogenesis	nuclear membrane|nucleolus				breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCCAGAGAGCGCATCTGAGTC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(192;2418 3032 7540 48714)							NA				0								G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	70	69	69		676	0.7	0	1	dbSNP_134	69	0,8600		0,0,4300	no	missense	MRTO4	NM_016183.3	58	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	benign	226/240	19585280	1,13005	2203	4300	6503	SO:0001583	missense			AK027569	CCDS191.1	1p36.13	2008-02-05	2006-12-21	2007-01-05	ENSG00000053372	ENSG00000053372	51154	51154			18477	protein-coding gene	gene with protein product			chromosome 1 open reading frame 33, MRT4, mRNA turnover 4, homolog (S. cerevisiae)	C1orf33	NA		Standard	NM_016183	NM_016183	NA	Approved	dJ657E11.4, MRT4	uc001bbs.3	Q9UKD2	OTTHUMG00000002496	ENST00000330263.4:c.676G>A	1.37:g.19585280G>A	ENSP00000364320:p.Ala226Thr	NA	B3KNB3|Q5TG55|Q96SS6|Q9BPV9	37	CCDS191.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.497115	0.26861	2.27E-4	0.0	ENSG00000053372	ENST00000330263	.	.	.	5.31	0.673	0.17941	.	1.141820	0.06171	N	0.677709	T	0.39627	0.1085	L	0.50333	1.59	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.28038	-1.0056	9	0.14252	T	0.57	-6.6866	8.487	0.33078	0.3954:0.0:0.6046:0.0	.	226	Q9UKD2	MRT4_HUMAN	T	226	.	ENSP00000364320:A226T	A	+	1	0	MRTO4	19457867	0.002000	0.14202	0.005000	0.12908	0.180000	0.23129	1.055000	0.30467	0.308000	0.22923	0.591000	0.81541	GCA	MRTO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007075.2		+	ENST00000330263.4	Missense_Mutation	SNP	1 : 19585280 - 19585280 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	272	60
DZIP3	9666	broad.mit.edu	37	3	108335411	108335411	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108335411G>A	ENST00000361582.3	+	5	512	c.282G>A	c.(280-282)caG>caA	p.Q94Q	DZIP3_ENST00000463306.1_Silent_p.Q94Q	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	94					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CTAACAGCCAGAATGGTGAGG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	171	173			NA	NA	3		NA											NA				108335411		2203	4300	6503	SO:0001819	synonymous_variant			AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919	9666	9666		RING-type (C3HC4) zinc fingers, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	30938	protein-coding gene	gene with protein product	human RNA-binding ubiquitin ligase of 138 kDa, protein phosphatase 1, regulatory subunit 66	608672	DAZ interacting protein 3, zinc finger		NA	9734811, 12538761	Standard	NM_014648	NM_014648	NA	Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.282G>A	3.37:g.108335411G>A		NA	B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	37	CCDS2952.1																																																																																			DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353968.1		+	ENST00000361582.3	Silent	SNP	3 : 108335411 - 108335411 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	475	90
RAD51AP2	729475	broad.mit.edu	37	2	17697531	17697531	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17697531C>T	ENST00000399080.2	-	1	2175	c.2152G>A	c.(2152-2154)Gtg>Atg	p.V718M		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	718										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCCACATTCACAACTTGTTGA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	75	77			NA	NA	2		NA											NA				17697531		1823	4078	5901	SO:0001583	missense			AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842	729475	729475			34417	protein-coding gene	gene with protein product					NA	16990250	Standard	NM_001099218	NM_001099218	NA	Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.2152G>A	2.37:g.17697531C>T	ENSP00000382030:p.Val718Met	NA		37	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	C	6.638	0.486189	0.12641	.	.	ENSG00000214842	ENST00000399080	T	0.23552	1.9	4.42	-3.24	0.05094	.	.	.	.	.	T	0.08088	0.0202	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32981	-0.9886	9	0.26408	T	0.33	0.3519	5.3879	0.16227	0.0:0.2282:0.2636:0.5082	.	718	Q09MP3	R51A2_HUMAN	M	718	ENSP00000382030:V718M	ENSP00000382030:V718M	V	-	1	0	RAD51AP2	17561012	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.789000	0.04609	-0.656000	0.05380	-0.383000	0.06682	GTG	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323801.3		-	ENST00000399080.2	Missense_Mutation	SNP	2 : 17697531 - 17697531 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	476	108
TRIM36	55521	broad.mit.edu	37	5	114515703	114515703	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114515703C>T	ENST00000282369.3	-	1	153	c.32G>A	c.(31-33)gGc>gAc	p.G11D	TRIM36_ENST00000514154.1_5'UTR|TRIM36_ENST00000379618.2_Missense_Mutation_p.G11D|TRIM36_ENST00000379617.2_Missense_Mutation_p.G11D	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	11						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CATGATGTAGCCAAATTCACT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	119	118			NA	NA	5		NA											NA				114515703		2202	4300	6502	SO:0001583	missense			AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503	55521	55521		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers, Fibronectin type III domain containing	16280	protein-coding gene	gene with protein product	zinc-binding protein Rbcc728, tripartite motif protein 36, RING finger protein 98	609317	tripartite motif-containing 36		NA	11331580	Standard	NM_018700	XM_005272031	NA	Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.32G>A	5.37:g.114515703C>T	ENSP00000282369:p.Gly11Asp	NA	A1L3Z1	37	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221520	0.58560	.	.	ENSG00000152503	ENST00000282369;ENST00000379618;ENST00000379617	T	0.54071	0.59	4.38	4.38	0.52667	.	0.224065	0.38492	N	0.001662	T	0.61489	0.2351	L	0.41824	1.3	0.25265	N	0.989568	D;D;P	0.71674	0.998;0.998;0.536	D;D;B	0.72075	0.976;0.943;0.114	T	0.53358	-0.8450	10	0.42905	T	0.14	.	12.7819	0.57483	0.0:1.0:0.0:0.0	.	11;11;11	A6NDD0;Q0P5Z9;Q9NQ86	.;.;TRI36_HUMAN	D	11	ENSP00000282369:G11D	ENSP00000282369:G11D	G	-	2	0	TRIM36	114543602	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.017000	0.40981	2.136000	0.66102	0.563000	0.77884	GGC	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250854.2		-	ENST00000282369.3	Missense_Mutation	SNP	5 : 114515703 - 114515703 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	846	135
DAO	1610	broad.mit.edu	37	12	109293208	109293208	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109293208G>A	ENST00000551281.1	+	7	784	c.671G>A	c.(670-672)cGg>cAg	p.R224Q	DAO_ENST00000228476.3_Missense_Mutation_p.R290Q			P14920	OXDA_HUMAN	D-amino-acid oxidase	290					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						CCCCAGATTCGGCTAGAAAGA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	GLN/ARG	0,4406		0,0,2203	46	39	41		869	5.1	0.9	12		41	1,8599	1.2+/-3.3	0,1,4299	no	missense	DAO	NM_001917.4	43	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	290/348	109293208	1,13005	2203	4300	6503	SO:0001583	missense			D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1610	1610	1.4.3.3		2671	protein-coding gene	gene with protein product		124050			NA	1356107, 8182053	Standard		NM_001917	NA	Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000551281.1:c.671G>A	12.37:g.109293208G>A	ENSP00000446853:p.Arg224Gln	NA	B2R7I5|Q16758|Q8N6R2	37		.	.	.	.	.	.	.	.	.	.	g	22.5	4.300068	0.81136	0.0	1.16E-4	ENSG00000110887	ENST00000551281;ENST00000228476	T;T	0.81415	-1.49;-1.49	5.14	5.14	0.70334	FAD dependent oxidoreductase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.93096	0.7802	H	0.96970	3.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.95271	0.8377	10	0.87932	D	0	-16.9776	16.0921	0.81098	0.0:0.0:1.0:0.0	.	290;273	P14920;Q7Z312	OXDA_HUMAN;.	Q	224;290	ENSP00000446853:R224Q;ENSP00000228476:R290Q	ENSP00000228476:R290Q	R	+	2	0	DAO	107817337	1.000000	0.71417	0.944000	0.38274	0.276000	0.26787	7.514000	0.81750	2.409000	0.81822	0.542000	0.68232	CGG	DAO-006	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000403680.1		+	ENST00000551281.1	Missense_Mutation	SNP	12 : 109293208 - 109293208 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	144	19
ZYX	7791	broad.mit.edu	37	7	143079468	143079468	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143079468G>A	ENST00000322764.5	+	3	681	c.336G>A	c.(334-336)gaG>gaA	p.E112E	ZYX_ENST00000477373.1_Intron|ZYX_ENST00000392910.2_5'UTR|ZYX_ENST00000449423.2_Silent_p.E56E	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	112					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					TGGAGGAGGAGATCTTCCCTT	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	19	19			NA	NA	7		NA											NA				143079468		2203	4297	6500	SO:0001819	synonymous_variant			X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840	7791	7791			13200	protein-coding gene	gene with protein product		602002			NA	8917469, 8940160	Standard	NM_003461	XM_005250052	NA	Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.336G>A	7.37:g.143079468G>A		NA	A4D2G6|Q6I9S4	37	CCDS5883.1																																																																																			ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000156296.2		+	ENST00000322764.5	Silent	SNP	7 : 143079468 - 143079468 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	132	8
RIMS1	22999	broad.mit.edu	37	6	72960117	72960117	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:72960117C>T	ENST00000264839.7	+	13	2326	c.2326C>T	c.(2326-2328)Cgt>Tgt	p.R776C	RIMS1_ENST00000425662.2_Missense_Mutation_p.R169C|RIMS1_ENST00000517827.1_Missense_Mutation_p.R235C|RIMS1_ENST00000348717.5_Missense_Mutation_p.R776C|RIMS1_ENST00000522291.1_Missense_Mutation_p.R776C|RIMS1_ENST00000520567.1_Missense_Mutation_p.R776C|RIMS1_ENST00000517960.1_Missense_Mutation_p.R776C|RIMS1_ENST00000491071.2_Missense_Mutation_p.R776C|RIMS1_ENST00000521978.1_Missense_Mutation_p.R776C|RIMS1_ENST00000401910.3_Missense_Mutation_p.R250C|RIMS1_ENST00000518273.1_Missense_Mutation_p.R776C|RIMS1_ENST00000523963.1_Missense_Mutation_p.R250C			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	776	C2 1.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AGTAGATGGACGTCCTCGAAA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	73	75			NA	NA	6		NA											NA				72960117		1842	4088	5930	SO:0001583	missense			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841	NA	22999			17282	protein-coding gene	gene with protein product	Rab3-interacting molecule	606629	RAB3 interacting protein 2	RAB3IP2, CORD7	NA	9205841, 11438518	Standard		NM_001168407	NA	Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000264839.7:c.2326C>T	6.37:g.72960117C>T	ENSP00000264839:p.Arg776Cys	NA	A7MBN6|O15048|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	4.001142|4.001142	0.74818|0.74818	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420|ENST00000517433	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.77229|.	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;1.53|.	5.28|5.28	5.28|5.28	0.74379|0.74379	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|T	0.61763|0.61763	0.2373|0.2373	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	0.999;0.999;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D|.	0.97110|.	0.99;0.994;0.999;0.999;1.0;0.999;0.999|.	T|T	0.60682|0.60682	-0.7215|-0.7215	10|5	0.87932|.	D|.	0|.	-15.9688|-15.9688	14.1452|14.1452	0.65347|0.65347	0.15:0.8499:0.0:0.0|0.15:0.8499:0.0:0.0	.|.	235;250;776;235;250;776;776|.	B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;C9JNW6;Q86UR5|.	.;.;.;.;.;.;RIMS1_HUMAN|.	C|M	776;776;776;776;776;776;776;776;776;776;776;776;250;250;169;169;235;1|349	ENSP00000430101:R776C;ENSP00000275037:R776C;ENSP00000264839:R776C;ENSP00000429959:R776C;ENSP00000430408:R776C;ENSP00000430502:R776C;ENSP00000430932:R776C;ENSP00000428417:R776C;ENSP00000385649:R250C;ENSP00000428328:R250C;ENSP00000411235:R169C;ENSP00000389503:R169C;ENSP00000428367:R235C;ENSP00000359448:R1C|.	ENSP00000264839:R776C|.	R|T	+|+	1|2	0|0	RIMS1|RIMS1	73016838|73016838	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.717000|0.717000	0.41224|0.41224	2.896000|2.896000	0.48656|0.48656	2.611000|2.611000	0.88343|0.88343	0.585000|0.585000	0.79938|0.79938	CGT|ACG	RIMS1-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000041173.4		+	ENST00000264839.7	Missense_Mutation	SNP	6 : 72960117 - 72960117 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	119	17
PPEF1	5475	broad.mit.edu	37	X	18843868	18843868	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18843868G>A	ENST00000361511.4	+	18	2159		c.e18-1		PPEF1_ENST00000544635.1_Splice_Site|PPEF1_ENST00000349874.5_Splice_Site|PPEF1_ENST00000359763.6_Splice_Site|PPEF1_ENST00000543630.1_Splice_Site	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	NA					detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					CTTTATTTTAGGCTCATTCTA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	85	88			NA	NA	X		NA											NA				18843868		2203	4300	6503	SO:0001630	splice_region_variant			BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717	5475	5475		Serine/threonine phosphatases / Protein phosphatase, catalytic subunits, EF-hand domain containing	9243	protein-coding gene	gene with protein product	protein phosphatase 7, catalytic subunit, alpha isozyme	300109		PPEF	NA	9215685, 9326663	Standard	NM_006240	NM_152224	NA	Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.1666-1G>A	X.37:g.18843868G>A		NA	A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	37	CCDS14188.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.149345	0.37923	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000544635;ENST00000470157	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7776	0.85555	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPEF1	18753789	1.000000	0.71417	0.971000	0.41717	0.242000	0.25591	8.412000	0.90232	2.221000	0.72209	0.544000	0.68410	.	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055953.3	Intron	+	ENST00000361511.4	Splice_Site	SNP	X : 18843868 - 18843868 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	216	49
EPC2	26122	broad.mit.edu	37	2	149519453	149519453	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149519453A>G	ENST00000258484.6	+	5	803	c.769A>G	c.(769-771)Aca>Gca	p.T257A		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	257					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		AAGAGAGAAAACAAAACGAGA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	73	75			NA	NA	2		NA											NA				149519453		1825	4078	5903	SO:0001583	missense			AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999	26122	26122			24543	protein-coding gene	gene with protein product		611000			NA		Standard	NM_015630	NM_015630	NA	Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.769A>G	2.37:g.149519453A>G	ENSP00000258484:p.Thr257Ala	NA	B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	37	CCDS46422.1	.	.	.	.	.	.	.	.	.	.	A	17.20	3.328373	0.60743	.	.	ENSG00000135999	ENST00000258484	.	.	.	5.6	5.6	0.85130	.	0.115719	0.56097	D	0.000030	T	0.45438	0.1342	N	0.26042	0.785	0.80722	D	1	B	0.26744	0.158	B	0.22880	0.042	T	0.34775	-0.9815	9	0.30854	T	0.27	-4.0144	15.7881	0.78326	1.0:0.0:0.0:0.0	.	257	Q52LR7	EPC2_HUMAN	A	257	.	ENSP00000258484:T257A	T	+	1	0	EPC2	149235923	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.309000	0.59135	2.137000	0.66172	0.482000	0.46254	ACA	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000332278.1		+	ENST00000258484.6	Missense_Mutation	SNP	2 : 149519453 - 149519453 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	90	18
PDS5A	23244	broad.mit.edu	37	4	39910118	39910118	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39910118C>T	ENST00000303538.8	-	11	1669	c.1130G>A	c.(1129-1131)cGt>cAt	p.R377H	PDS5A_ENST00000503396.1_Missense_Mutation_p.R377H	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	377					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						GACATCATGACGAATAGCTTC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	136	140			NA	NA	4		NA											NA				39910118		1838	4087	5925	SO:0001583	missense			AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892	23244	23244			29088	protein-coding gene	gene with protein product		613200			NA	11076961, 15855230	Standard	NM_015200	NM_001100399	NA	Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.1130G>A	4.37:g.39910118C>T	ENSP00000303427:p.Arg377His	NA	Q2TTR5|Q68DF7|Q8N7J4|Q8NG14|Q9Y4D4	37	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	C	33	5.228229	0.95173	.	.	ENSG00000121892	ENST00000303538;ENST00000503396	T;T	0.76060	-0.99;-0.99	5.03	5.03	0.67393	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86973	0.6062	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.87701	0.2560	9	.	.	.	-8.9492	18.3555	0.90356	0.0:1.0:0.0:0.0	.	377;377	Q29RF7-3;Q29RF7	.;PDS5A_HUMAN	H	377	ENSP00000303427:R377H;ENSP00000426749:R377H	.	R	-	2	0	PDS5A	39586513	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.798000	0.85924	2.342000	0.79632	0.557000	0.71058	CGT	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361287.1		-	ENST00000303538.8	Missense_Mutation	SNP	4 : 39910118 - 39910118 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	507	103
IL20RA	53832	broad.mit.edu	37	6	137329757	137329757	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137329757G>A	ENST00000316649.5	-	5	938	c.703C>T	c.(703-705)Cag>Tag	p.Q235*	IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000541547.1_Nonsense_Mutation_p.Q186*|IL20RA_ENST00000367748.1_Nonsense_Mutation_p.Q124*	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	235	Fibronectin type-III 2.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CTGGCACACTGCTTCTCAGAA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	94	94			NA	NA	6		NA											NA				137329757		2203	4300	6503	SO:0001587	stop_gained			AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402	53832	53832		Interleukins and interleukin receptors	6003	protein-coding gene	gene with protein product		605620			NA	10875937, 11163236	Standard	NM_014432	NM_001278724	NA	Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.703C>T	6.37:g.137329757G>A	ENSP00000314976:p.Gln235*	NA	Q14CW2|Q6UWA9|Q96SH8	37	CCDS5181.1	.	.	.	.	.	.	.	.	.	.	G	41	8.882033	0.98988	.	.	ENSG00000016402	ENST00000316649;ENST00000367748;ENST00000541547	.	.	.	5.82	5.82	0.92795	.	0.536313	0.20891	N	0.083840	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-9.5671	16.8159	0.85733	0.0:0.0:1.0:0.0	.	.	.	.	X	235;124;186	.	ENSP00000314976:Q235X	Q	-	1	0	IL20RA	137371450	0.987000	0.35691	1.000000	0.80357	0.993000	0.82548	1.230000	0.32612	2.751000	0.94390	0.650000	0.86243	CAG	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042393.1		-	ENST00000316649.5	Nonsense_Mutation	SNP	6 : 137329757 - 137329757 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	763	150
PRKCD	5580	broad.mit.edu	37	3	53220225	53220225	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53220225A>G	ENST00000394729.2	+	12	1457	c.1129A>G	c.(1129-1131)Atc>Gtc	p.I377V	PRKCD_ENST00000330452.3_Missense_Mutation_p.I377V	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	377	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		GTACTTTGCCATCAAGGCCCT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	94	98			NA	NA	3		NA											NA				53220225		2203	4300	6503	SO:0001583	missense				CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	5580	5580	2.7.11.1		9399	protein-coding gene	gene with protein product		176977			NA	8188219	Standard		NM_006254	NA	Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.1129A>G	3.37:g.53220225A>G	ENSP00000378217:p.Ile377Val	NA	B2R834|Q15144|Q86XJ6	37	CCDS2870.1	.	.	.	.	.	.	.	.	.	.	A	0.070	-1.204336	0.01568	.	.	ENSG00000163932	ENST00000394729;ENST00000330452	T;T	0.23147	1.92;1.92	5.15	-5.74	0.02391	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.337088	0.34853	N	0.003637	T	0.10594	0.0259	N	0.12611	0.24	0.25272	N	0.989504	B	0.10296	0.003	B	0.12837	0.008	T	0.24584	-1.0156	10	0.06099	T	0.92	.	16.4546	0.84008	0.4405:0.0:0.5595:0.0	.	377	Q05655	KPCD_HUMAN	V	377	ENSP00000378217:I377V;ENSP00000331602:I377V	ENSP00000331602:I377V	I	+	1	0	PRKCD	53195265	0.000000	0.05858	0.005000	0.12908	0.697000	0.40408	-0.023000	0.12456	-1.520000	0.01773	-1.431000	0.01090	ATC	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257818.1		+	ENST00000394729.2	Missense_Mutation	SNP	3 : 53220225 - 53220225 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	208	10
PLIN3	10226	broad.mit.edu	37	19	4847894	4847894	+	Missense_Mutation	SNP	C	C	T	rs146856306	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4847894C>T	ENST00000592528.1	-	6	668	c.607G>A	c.(607-609)Gcc>Acc	p.A203T	PLIN3_ENST00000221957.4_Missense_Mutation_p.A215T|PLIN3_ENST00000585479.1_Missense_Mutation_p.A215T			O60664	PLIN3_HUMAN	perilipin 3	215					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	AGGGATGTGGCGATGCGGGCT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	40	32	34		643,607,643	2.1	0.8	19	dbSNP_134	34	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense,missense	PLIN3	NM_001164189.1,NM_001164194.1,NM_005817.4	58,58,58	0,3,6500	TT,TC,CC	NA	0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging	215/434,203/423,215/435	4847894	3,13003	2203	4300	6503	SO:0001583	missense			AF051314	CCDS12137.1, CCDS59337.1, CCDS59338.1	19p13.3	2009-08-12	2009-08-12	2009-08-12		ENSG00000105355	10226	10226		Perilipins	16893	protein-coding gene	gene with protein product	cargo selection protein (mannose 6 phosphate receptor binding protein), placental protein 17, MPR-BINDING PROTEIN, 47-KD	602702	mannose-6-phosphate receptor binding protein 1	M6PRBP1	NA	9590177, 6856484, 19638644	Standard	NM_005817	NM_005817	NA	Approved	TIP47, PP17	uc002mbj.2	O60664		ENST00000592528.1:c.607G>A	19.37:g.4847894C>T	ENSP00000467803:p.Ala203Thr	NA	A8K4Y9|Q53G77|Q9BS03|Q9UBD7|Q9UP92	37	CCDS59337.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022869	0.54683	0.0	3.49E-4	ENSG00000105355	ENST00000221957	T	0.28255	1.62	4.41	2.14	0.27477	.	0.185373	0.34291	U	0.004087	T	0.44540	0.1298	M	0.84082	2.675	0.51233	D	0.999911	D;P;D	0.60575	0.985;0.951;0.988	P;B;P	0.52627	0.579;0.32;0.704	T	0.49916	-0.8888	10	0.87932	D	0	-28.6311	8.6119	0.33808	0.1512:0.7668:0.0:0.082	.	215;32;215	O60664-3;O60664-2;O60664	.;.;PLIN3_HUMAN	T	215	ENSP00000221957:A215T	ENSP00000221957:A215T	A	-	1	0	PLIN3	4798894	0.998000	0.40836	0.766000	0.31476	0.083000	0.17756	4.092000	0.57707	0.861000	0.35504	0.511000	0.50034	GCC	PLIN3-007	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450437.1		-	ENST00000592528.1	Missense_Mutation	SNP	19 : 4847894 - 4847894 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	140	21
PCED1B	91523	broad.mit.edu	37	12	47629064	47629064	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:47629064G>A	ENST00000546455.1	+	4	949	c.218G>A	c.(217-219)gGc>gAc	p.G73D	PCED1B_ENST00000432328.1_Missense_Mutation_p.G73D					PC-esterase domain containing 1B	NA											NA						ATGCACAACGGCCTTAACTAC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	98	101			NA	NA	12		NA											NA				47629064		2203	4300	6503	SO:0001583	missense			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715	91523	91523			28255	protein-coding gene	gene with protein product			family with sequence similarity 113, member B	FAM113B	NA	20056006	Standard	NM_138371	NM_138371	NA	Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.218G>A	12.37:g.47629064G>A	ENSP00000446688:p.Gly73Asp	NA		37	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961183	0.53400	.	.	ENSG00000179715	ENST00000546455;ENST00000432328;ENST00000549500;ENST00000549630	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	3.79	3.79	0.43588	Esterase, SGNH hydrolase-type (1);	0.154442	0.41823	D	0.000804	T	0.42086	0.1187	M	0.80183	2.485	0.42662	D	0.993489	D	0.89917	1.0	D	0.87578	0.998	T	0.34775	-0.9815	10	0.39692	T	0.17	-18.9126	13.9718	0.64245	0.0:0.0:1.0:0.0	.	73	Q96HM7	F113B_HUMAN	D	73	ENSP00000446688:G73D;ENSP00000396040:G73D;ENSP00000449680:G73D;ENSP00000448000:G73D	ENSP00000396040:G73D	G	+	2	0	FAM113B	45915331	1.000000	0.71417	0.268000	0.24571	0.018000	0.09664	8.006000	0.88564	2.417000	0.82017	0.655000	0.94253	GGC	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405079.1		+	ENST00000546455.1	Missense_Mutation	SNP	12 : 47629064 - 47629064 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	416	13
ZNF583	147949	broad.mit.edu	37	19	56935069	56935069	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56935069G>A	ENST00000333201.9	+	5	1252	c.1042G>A	c.(1042-1044)Gga>Aga	p.G348R	ZNF583_ENST00000585612.1_3'UTR|ZNF583_ENST00000291598.7_Missense_Mutation_p.G348R	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		AATTCATACAGGAGAGAAACC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	123	121			NA	NA	19		NA											NA				56935069		2203	4300	6503	SO:0001583	missense			AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440	147949	147949		Zinc fingers, C2H2-type, -	26427	protein-coding gene	gene with protein product					NA		Standard	NM_152478	NM_152478	NA	Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1042G>A	19.37:g.56935069G>A	ENSP00000388502:p.Gly348Arg	NA	O14850|Q2NKK3	37	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324461	0.81580	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.26223	1.75;1.75	4.33	4.33	0.51752	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43919	D	0.000502	T	0.48892	0.1525	M	0.65975	2.015	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.45366	-0.9266	9	.	.	.	.	16.1017	0.81175	0.0:0.0:1.0:0.0	.	348	Q96ND8	ZN583_HUMAN	R	348	ENSP00000291598:G348R;ENSP00000388502:G348R	.	G	+	1	0	ZNF583	61626881	1.000000	0.71417	0.538000	0.28064	0.994000	0.84299	4.412000	0.59787	2.415000	0.81967	0.462000	0.41574	GGA	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401453.1		+	ENST00000333201.9	Missense_Mutation	SNP	19 : 56935069 - 56935069 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	424	77
EXTL1	2134	broad.mit.edu	37	1	26349754	26349754	+	Missense_Mutation	SNP	C	C	T	rs150568245	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26349754C>T	ENST00000374280.3	+	1	1484	c.617C>T	c.(616-618)cCg>cTg	p.P206L	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	206					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGCCCACCCGTTGCGAGGT	0.682		NA											C	2	9e-04	0.0041	NA	2184	NA	0.9997	,	,	NA	3e-04	NA	NA	NA	0.001	0.8544	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0								C	LEU/PRO	29,4373		0,29,2172	16	18	17		617	5.4	1	1	dbSNP_134	17	1,8591		0,1,4295	yes	missense	EXTL1	NM_004455.2	98	0,30,6467	TT,TC,CC	NA	0.0116,0.6588,0.2309	probably-damaging	206/677	26349754	30,12964	2201	4296	6497	SO:0001583	missense			U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2134	2134	2.4.1.224	Exostosin glycosyltransferase family	3515	protein-coding gene	gene with protein product	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase, alpha-N-acetylglucosaminyltransferase II, glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase, exostosin-L	601738	exostoses (multiple)-like 1		NA	9037597	Standard	NM_004455	NM_004455	NA	Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.617C>T	1.37:g.26349754C>T	ENSP00000363398:p.Pro206Leu	NA	Q6GSC1	37	CCDS271.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	27.6	4.849207	0.91277	0.006588	1.16E-4	ENSG00000158008	ENST00000374280	D	0.97665	-4.48	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.97692	0.9243	M	0.79805	2.47	0.80722	D	1	D	0.69078	0.997	D	0.67103	0.949	D	0.96055	0.9034	10	0.59425	D	0.04	-13.5266	18.941	0.92605	0.0:1.0:0.0:0.0	.	206	Q92935	EXTL1_HUMAN	L	206	ENSP00000363398:P206L	ENSP00000363398:P206L	P	+	2	0	EXTL1	26222341	1.000000	0.71417	0.968000	0.41197	0.742000	0.42306	5.839000	0.69395	2.802000	0.96397	0.655000	0.94253	CCG	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019749.1		+	ENST00000374280.3	Missense_Mutation	SNP	1 : 26349754 - 26349754 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	163	18
HES6	55502	broad.mit.edu	37	2	239147804	239147804	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239147804C>T	ENST00000409160.3	-	3	706	c.574G>A	c.(574-576)Gtg>Atg	p.V192M	AC096574.4_ENST00000456601.1_RNA|HES6_ENST00000409002.3_Silent_p.T111T|HES6_ENST00000409574.1_Missense_Mutation_p.R100H|HES6_ENST00000409182.1_Silent_p.T84T|HES6_ENST00000272937.5_Silent_p.T113T	NM_001142853.1|NM_018645.4	NP_001136325.1|NP_061115.2	Q96HZ4	HES6_HUMAN	hes family bHLH transcription factor 6	0					cell differentiation	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			lung(1)|skin(1)	2		Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TGGCCTGGCACGTGGACACGA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	27	27			NA	NA	2		NA											NA				239147804		2199	4292	6491	SO:0001583	missense			AB035179	CCDS2527.1, CCDS46556.1, CCDS63180.1	2q37.3	2013-10-17	2013-10-17		ENSG00000144485	ENSG00000144485	55502	55502		Basic helix-loop-helix proteins	18254	protein-coding gene	gene with protein product		610331	hairy and enhancer of split 6 (Drosophila)		NA	10851137	Standard	NM_018645	XM_005246095	NA	Approved	bHLHb41	uc002vxz.3	Q96HZ4	OTTHUMG00000133340	ENST00000409160.3:c.574G>A	2.37:g.239147804C>T	ENSP00000387215:p.Val192Met	NA	A8KAP6|Q53SN9|Q8N2J2|Q96T93|Q9P2S3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	18.26|18.26	3.583903|3.583903	0.65992|0.65992	.|.	.|.	ENSG00000144485|ENSG00000144485	ENST00000409574|ENST00000409160	T|T	0.74421|0.76448	-0.84|-1.02	3.56|3.56	2.56|2.56	0.30785|0.30785	.|.	.|.	.|.	.|.	.|.	T|T	0.80544|0.80544	0.4643|0.4643	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.69078	.|0.997	.|P	.|0.57468	.|0.821	T|T	0.80643|0.80643	-0.1291|-0.1291	6|8	0.62326|0.87932	D|D	0.03|0	.|.	5.4746|5.4746	0.16688|0.16688	0.1954:0.5149:0.2897:0.0|0.1954:0.5149:0.2897:0.0	.|.	.|192	.|Q96HZ4-2	.|.	H|M	100|192	ENSP00000387008:R100H|ENSP00000387215:V192M	ENSP00000387008:R100H|ENSP00000387215:V192M	R|V	-|-	2|1	0|0	HES6|HES6	238812543|238812543	0.989000|0.989000	0.36119|0.36119	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	0.481000|0.481000	0.22260|0.22260	1.771000|1.771000	0.52183|0.52183	0.290000|0.290000	0.19541|0.19541	CGT|GTG	HES6-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000328359.1		-	ENST00000409160.3	Missense_Mutation	SNP	2 : 239147804 - 239147804 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	26
KIF16B	55614	broad.mit.edu	37	20	16486701	16486701	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:16486701G>T	ENST00000354981.2	-	8	991	c.834C>A	c.(832-834)tcC>tcA	p.S278S	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Silent_p.S278S|KIF16B_ENST00000408042.1_Silent_p.S278S	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	278	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GAGTCACGAGGGACTTGTTAA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	110	113			NA	NA	20		NA											NA				16486701		2203	4300	6503	SO:0001819	synonymous_variant			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177	55614	55614		Kinesins	15869	protein-coding gene	gene with protein product			chromosome 20 open reading frame 23	C20orf23	NA	16084724, 16782399	Standard	NM_017683	NM_024704	NA	Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.834C>A	20.37:g.16486701G>T		NA	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	37	CCDS13122.1																																																																																			KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078104.2		-	ENST00000354981.2	Silent	SNP	20 : 16486701 - 16486701 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	494	13
ASTN1	460	broad.mit.edu	37	1	177133624	177133624	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177133624C>T	ENST00000367657.3	-	1	379	c.189G>A	c.(187-189)gaG>gaA	p.E63E	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367654.3_Silent_p.E63E|ASTN1_ENST00000361833.2_Silent_p.E63E|ASTN1_ENST00000424564.2_Silent_p.E63E			O14525	ASTN1_HUMAN	astrotactin 1	63					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGAGCTTGGGCTCCGAGGCCG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	57	61			NA	NA	1		NA											NA				177133624		2203	4300	6503	SO:0001819	synonymous_variant			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092	460	460			773	protein-coding gene	gene with protein product		600904	astrotactin	ASTN	NA	9070947	Standard	NM_004319	NM_001286164	NA	Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367657.3:c.189G>A	1.37:g.177133624C>T		NA	O60799|Q5W0V7|Q5W0V8	37																																																																																				ASTN1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000084823.1		-	ENST00000367657.3	Silent	SNP	1 : 177133624 - 177133624 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	267	62
CEP85L	387119	broad.mit.edu	37	6	118803068	118803068	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:118803068T>G	ENST00000368491.3	-	8	2240	c.1619A>C	c.(1618-1620)aAt>aCt	p.N540T	CEP85L_ENST00000368488.5_Missense_Mutation_p.N543T	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	540						centrosome					NA						CTCTTGTAAATTCTTATTTTT	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	61	64			NA	NA	6		NA											NA				118803068		1792	4062	5854	SO:0001583	missense			AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860	387119	387119			21638	protein-coding gene	gene with protein product			chromosome 6 open reading frame 204	C6orf204	NA		Standard	NM_001042475	NM_206921	NA	Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.1619A>C	6.37:g.118803068T>G	ENSP00000357477:p.Asn540Thr	NA	A1A4E1|A2IDE5|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	37	CCDS43498.1	.	.	.	.	.	.	.	.	.	.	T	9.910	1.209342	0.22205	.	.	ENSG00000111860	ENST00000368491;ENST00000368488;ENST00000434604	T;T;T	0.11063	2.81;2.81;2.81	5.24	1.19	0.21007	.	0.499399	0.23187	N	0.050944	T	0.01730	0.0055	N	0.19112	0.55	0.24195	N	0.995533	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.47598	-0.9105	10	0.22706	T	0.39	-9.2437	7.5187	0.27616	0.0:0.0717:0.2664:0.6619	.	543;540	F8W6J2;Q5SZL2	.;CF204_HUMAN	T	540;543;543	ENSP00000357477:N540T;ENSP00000357474:N543T;ENSP00000392131:N543T	ENSP00000357474:N543T	N	-	2	0	C6orf204	118909761	0.997000	0.39634	1.000000	0.80357	0.982000	0.71751	1.023000	0.30065	0.380000	0.24823	0.459000	0.35465	AAT	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041996.2		-	ENST00000368491.3	Missense_Mutation	SNP	6 : 118803068 - 118803068 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	87	21
DDHD1	80821	broad.mit.edu	37	14	53558604	53558604	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:53558604G>A	ENST00000323669.5	-	4	1187	c.1188C>T	c.(1186-1188)gcC>gcT	p.A396A	DDHD1_ENST00000395606.1_Silent_p.A403A|DDHD1_ENST00000357758.3_Silent_p.A396A	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	396					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CTTCTAATGTGGCTTCTTCTA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	143	146			NA	NA	14		NA											NA				53558604		2203	4300	6503	SO:0001819	synonymous_variant			AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523	NA	80821			19714	protein-coding gene	gene with protein product	phosphatidic acid-preferring phospholipase A1	614603	spastic paraplegia 28 (autosomal recessive)	SPG28	NA	11214970, 20359546	Standard		NM_030637	NA	Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.1188C>T	14.37:g.53558604G>A		NA	Q8WVH3|Q96LL2|Q9C0F8	37	CCDS53895.1																																																																																			DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276901.1		-	ENST00000323669.5	Silent	SNP	14 : 53558604 - 53558604 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	463	95
ABCA9	10350	broad.mit.edu	37	17	67029942	67029942	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67029942C>T	ENST00000340001.4	-	9	1412	c.1201G>A	c.(1201-1203)Gct>Act	p.A401T	ABCA9_ENST00000453985.2_Missense_Mutation_p.A401T|ABCA9_ENST00000370732.2_Missense_Mutation_p.A401T	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	401					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AAAAGAGTAGCTATTATGAGG	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	124	120			NA	NA	17		NA											NA				67029942		2203	4298	6501	SO:0001583	missense			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258	10350	10350		ATP binding cassette transporters / subfamily A	39	protein-coding gene	gene with protein product		612507			NA		Standard	NM_172386	XM_005256934	NA	Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.1201G>A	17.37:g.67029942C>T	ENSP00000342216:p.Ala401Thr	NA	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	37	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899461	0.52227	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.86956	-2.19;-2.19	4.53	3.54	0.40534	.	0.000000	0.44688	D	0.000431	D	0.89364	0.6694	M	0.71036	2.16	0.09310	N	1	D;P	0.59767	0.986;0.56	P;P	0.61201	0.885;0.593	T	0.79711	-0.1689	10	0.33940	T	0.23	.	6.2299	0.20728	0.2849:0.6186:0.0:0.0965	.	401;401	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	T	401;384;401;396	ENSP00000342216:A401T;ENSP00000359767:A401T	ENSP00000342216:A401T	A	-	1	0	ABCA9	64541537	0.005000	0.15991	0.055000	0.19348	0.031000	0.12232	0.432000	0.21461	2.243000	0.73865	0.603000	0.83216	GCT	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277072.2		-	ENST00000340001.4	Missense_Mutation	SNP	17 : 67029942 - 67029942 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	602	56
SRGAP1	57522	broad.mit.edu	37	12	64536219	64536219	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64536219C>A	ENST00000355086.3	+	22	3549	c.3025C>A	c.(3025-3027)Ctc>Atc	p.L1009I	SRGAP1_ENST00000357825.3_Missense_Mutation_p.L986I|SRGAP1_ENST00000543397.1_Missense_Mutation_p.L946I	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	1009					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CACGGAATCTCTCAGCCCTTT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	100	111			NA	NA	12		NA											NA				64536219		2203	4300	6503	SO:0001583	missense			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935	57522	57522		Rho GTPase activating proteins	17382	protein-coding gene	gene with protein product		606523			NA	11672528	Standard		NM_020762	NA	Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.3025C>A	12.37:g.64536219C>A	ENSP00000347198:p.Leu1009Ile	NA	Q9H8A3|Q9P2P2	37	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130120	0.37630	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.34072	1.38;1.38;1.38	6.04	4.22	0.49857	.	0.269262	0.18965	U	0.126300	T	0.29817	0.0745	L	0.50333	1.59	0.47407	D	0.999413	P;B	0.37330	0.59;0.321	B;B	0.34590	0.186;0.086	T	0.03259	-1.1055	9	.	.	.	.	8.9068	0.35528	0.0:0.7426:0.1247:0.1326	.	1009;946	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	I	1009;986;946	ENSP00000347198:L1009I;ENSP00000350480:L986I;ENSP00000437948:L946I	.	L	+	1	0	SRGAP1	62822486	0.974000	0.33945	0.925000	0.36789	0.009000	0.06853	2.468000	0.45102	0.883000	0.36040	-0.302000	0.09304	CTC	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400896.1		+	ENST00000355086.3	Missense_Mutation	SNP	12 : 64536219 - 64536219 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	336	11
MUS81	80198	broad.mit.edu	37	11	65632028	65632028	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65632028G>A	ENST00000308110.4	+	11	1469	c.1120G>A	c.(1120-1122)Gtc>Atc	p.V374I	MUS81_ENST00000533035.1_Missense_Mutation_p.V299I	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	374					DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GCATGGTTCCGTCCACAACCT	0.637		NA						Homologous recombination						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	88	99			NA	NA	11		NA											NA				65632028		2201	4296	6497	SO:0001583	missense				CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732	80198	80198			29814	protein-coding gene	gene with protein product	SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)	606591	MUS81 endonuclease homolog (yeast), MUS81 endonuclease homolog (S. cerevisiae)		NA	11741546, 12374758	Standard	NM_025128	NM_025128	NA	Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.1120G>A	11.37:g.65632028G>A	ENSP00000307853:p.Val374Ile	NA	Q9H7D9	37	CCDS8115.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.07|10.07	1.250794|1.250794	0.22880|0.22880	.|.	.|.	ENSG00000172732|ENSG00000172732	ENST00000529374|ENST00000533035;ENST00000308110;ENST00000437855	.|T;T	.|0.21734	.|1.99;1.99	5.91|5.91	1.65|1.65	0.23941|0.23941	.|DNA repair nuclease, XPF-type/Helicase (1);Restriction endonuclease, type II-like (1);	.|0.538442	.|0.20786	.|N	.|0.085704	T|T	0.08223|0.08223	0.0205|0.0205	N|N	0.11427|0.11427	0.14|0.14	0.09310|0.09310	N|N	1|1	.|B	.|0.33807	.|0.426	.|B	.|0.19666	.|0.026	T|T	0.32295|0.32295	-0.9912|-0.9912	5|10	.|0.22706	.|T	.|0.39	-1.4659|-1.4659	9.3054|9.3054	0.37872|0.37872	0.312:0.0:0.688:0.0|0.312:0.0:0.688:0.0	.|.	.|374	.|Q96NY9	.|MUS81_HUMAN	H|I	299|299;374;374	.|ENSP00000432287:V299I;ENSP00000307853:V374I	.|ENSP00000307853:V374I	R|V	+|+	2|1	0|0	MUS81|MUS81	65388604|65388604	0.030000|0.030000	0.19436|0.19436	0.000000|0.000000	0.03702|0.03702	0.568000|0.568000	0.35870|0.35870	2.068000|2.068000	0.41471|0.41471	0.052000|0.052000	0.16007|0.16007	0.555000|0.555000	0.69702|0.69702	CGT|GTC	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390941.3		+	ENST00000308110.4	Missense_Mutation	SNP	11 : 65632028 - 65632028 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	58
VEPH1	79674	broad.mit.edu	37	3	157131821	157131821	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157131821T>C	ENST00000362010.2	-	6	1062	c.755A>G	c.(754-756)gAc>gGc	p.D252G	VEPH1_ENST00000392832.2_Missense_Mutation_p.D252G|VEPH1_ENST00000392833.2_Missense_Mutation_p.D252G|VEPH1_ENST00000469007.1_5'UTR|VEPH1_ENST00000543418.1_Missense_Mutation_p.D252G	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	252						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TAGGATGATGTCATTATGGGT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	105	106			NA	NA	3		NA											NA				157131821		2203	4300	6503	SO:0001583	missense			AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415	79674	79674		Pleckstrin homology (PH) domain containing	25735	protein-coding gene	gene with protein product		609594	ventricular zone expressed PH domain homolog 1 (zebrafish)		NA	11214970, 15388229	Standard	NM_024621	NM_024621	NA	Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.755A>G	3.37:g.157131821T>C	ENSP00000354919:p.Asp252Gly	NA	D3DNL0|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	37	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	T	14.05	2.421162	0.42918	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.9	5.9	0.94986	.	0.045054	0.85682	D	0.000000	T	0.47284	0.1437	L	0.41236	1.265	0.80722	D	1	D;D	0.65815	0.995;0.991	P;P	0.62089	0.898;0.793	T	0.26395	-1.0104	10	0.25751	T	0.34	-2.4488	14.9032	0.70696	0.0:0.0:0.0:1.0	.	252;252	Q14D04-2;Q14D04	.;MELT_HUMAN	G	252	ENSP00000376578:D252G;ENSP00000354919:D252G;ENSP00000446258:D252G;ENSP00000376577:D252G	ENSP00000354919:D252G	D	-	2	0	VEPH1	158614515	0.994000	0.37717	0.115000	0.21578	0.967000	0.64934	3.823000	0.55715	2.251000	0.74343	0.528000	0.53228	GAC	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351845.3		-	ENST00000362010.2	Missense_Mutation	SNP	3 : 157131821 - 157131821 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	272	50
ASTN2	23245	broad.mit.edu	37	9	119737600	119737600	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119737600G>A	ENST00000361209.2	-	9	1754	c.1623C>T	c.(1621-1623)ggC>ggT	p.G541G	ASTN2_ENST00000373996.3_Silent_p.G588G|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000313400.4_Silent_p.G592G	NM_014010.4	NP_054729.3	O75129	ASTN2_HUMAN	astrotactin 2	592	EGF-like 1.					integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GAAGCCAGAGGCCTTGGCCCA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	64	65			NA	NA	9		NA											NA				119737600		2203	4300	6503	SO:0001819	synonymous_variant			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219	23245	23245			17021	protein-coding gene	gene with protein product		612856			NA	9734811	Standard	NM_014010	NM_014010	NA	Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000361209.2:c.1623C>T	9.37:g.119737600G>A		NA	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	37	CCDS6815.1																																																																																			ASTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055428.2		-	ENST00000361209.2	Silent	SNP	9 : 119737600 - 119737600 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	310	58
SCARB1	949	broad.mit.edu	37	12	125302125	125302125	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125302125C>A	ENST00000339570.5	-	2	451	c.255G>T	c.(253-255)caG>caT	p.Q85H	SCARB1_ENST00000415380.2_Missense_Mutation_p.Q85H|SCARB1_ENST00000544327.1_Missense_Mutation_p.Q31H|SCARB1_ENST00000541205.1_Missense_Mutation_p.Q44H|SCARB1_ENST00000261693.6_Missense_Mutation_p.Q85H|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000546215.1_Missense_Mutation_p.Q85H|SCARB1_ENST00000376788.1_Intron|SCARB1_ENST00000540495.1_Missense_Mutation_p.Q48H	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	85					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	GCTCCCGCACCTGCGGCTTCT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	55	54			NA	NA	12		NA											NA				125302125		2203	4300	6503	SO:0001583	missense			Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060	949	949			1664	protein-coding gene	gene with protein product		601040	CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1	CD36L1	NA	7689561	Standard	NM_005505	NM_001082959	NA	Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000339570.5:c.255G>T	12.37:g.125302125C>A	ENSP00000343795:p.Gln85His	NA	Q14016|Q52LZ5|Q6KFX4	37	CCDS45008.1	.	.	.	.	.	.	.	.	.	.	C	7.826	0.718797	0.15372	.	.	ENSG00000073060	ENST00000339570;ENST00000415380;ENST00000261693;ENST00000546215;ENST00000541205;ENST00000544327;ENST00000540495;ENST00000545493	T;T;T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	5.44	-1.23	0.09465	.	0.865179	0.10224	N	0.700512	T	0.60038	0.2238	L	0.45228	1.405	0.20307	N	0.999919	P;P;P;P;P;P	0.41597	0.635;0.756;0.635;0.635;0.537;0.712	P;P;P;P;B;P	0.45681	0.49;0.49;0.468;0.468;0.358;0.456	T	0.51140	-0.8743	10	0.30854	T	0.27	-6.4271	2.2086	0.03942	0.1203:0.4056:0.1176:0.3566	.	44;85;85;85;85;85	B3KW46;B7ZKQ9;B4E3I1;Q8WTV0;F8W8N0;Q8WTV0-2	.;.;.;SCRB1_HUMAN;.;.	H	85;85;85;85;44;31;48;85	ENSP00000343795:Q85H;ENSP00000414979:Q85H;ENSP00000261693:Q85H;ENSP00000442862:Q85H;ENSP00000446107:Q44H;ENSP00000444851:Q31H;ENSP00000443286:Q48H;ENSP00000443454:Q85H	ENSP00000261693:Q85H	Q	-	3	2	SCARB1	123868078	0.067000	0.21026	0.604000	0.28916	0.248000	0.25809	0.469000	0.22067	0.270000	0.21984	-0.266000	0.10368	CAG	SCARB1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400164.2		-	ENST00000339570.5	Missense_Mutation	SNP	12 : 125302125 - 125302125 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	364	73
PCIF1	63935	broad.mit.edu	37	20	44574362	44574362	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44574362C>T	ENST00000372409.3	+	12	1545	c.1181C>T	c.(1180-1182)gCc>gTc	p.A394V	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	394						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						GAGGTGGAGGCCCCTGAGGTG	0.627		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	20		NA											NA				44574362		2203	4300	6503	SO:0001583	missense			AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982	63935	63935			16200	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 121		chromosome 20 open reading frame 67	C20orf67	NA	12565871, 15121856	Standard	NM_022104	NM_022104	NA	Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.1181C>T	20.37:g.44574362C>T	ENSP00000361486:p.Ala394Val	NA	E1P5P1|Q54AB9|Q9NT85	37	CCDS13388.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.846816	0.32606	.	.	ENSG00000100982	ENST00000372409;ENST00000443130	.	.	.	5.01	5.01	0.66863	.	0.232564	0.43579	D	0.000542	T	0.24586	0.0596	N	0.02539	-0.55	0.39209	D	0.963286	B	0.02656	0.0	B	0.04013	0.001	T	0.20472	-1.0274	9	0.15952	T	0.53	-15.6623	10.6663	0.45732	0.0:0.9124:0.0:0.0876	.	394	Q9H4Z3	PCIF1_HUMAN	V	394	.	ENSP00000361486:A394V	A	+	2	0	PCIF1	44007769	0.976000	0.34144	0.999000	0.59377	0.847000	0.48162	2.471000	0.45127	2.615000	0.88500	0.558000	0.71614	GCC	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079550.1		+	ENST00000372409.3	Missense_Mutation	SNP	20 : 44574362 - 44574362 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	328	53
LHFPL5	222662	broad.mit.edu	37	6	35782385	35782385	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35782385C>T	ENST00000373853.1	+	2	853	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	LHFPL5_ENST00000360215.1_Missense_Mutation_p.R159C|LHFPL5_ENST00000496656.1_3'UTR			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	159						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TGAGGTGCGGCGCATGTGTGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	115	132			NA	NA	6		NA											NA				35782385		2203	4300	6503	SO:0001583	missense			BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753	222662	222662			21253	protein-coding gene	gene with protein product		609427	deafness, autosomal recessive 67	DFNB67	NA	16459341	Standard	NM_182548	NM_182548	NA	Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.475C>T	6.37:g.35782385C>T	ENSP00000362960:p.Arg159Cys	NA		37	CCDS4812.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342054	0.81911	.	.	ENSG00000197753	ENST00000373853;ENST00000360215	T;T	0.73258	-0.73;-0.73	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.84479	0.5481	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86285	0.1670	10	0.66056	D	0.02	-10.6758	19.1576	0.93517	0.0:1.0:0.0:0.0	.	159	Q8TAF8	TMHS_HUMAN	C	159	ENSP00000362960:R159C;ENSP00000353346:R159C	ENSP00000353346:R159C	R	+	1	0	LHFPL5	35890363	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.242000	0.51384	2.541000	0.85698	0.561000	0.74099	CGC	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040323.1		+	ENST00000373853.1	Missense_Mutation	SNP	6 : 35782385 - 35782385 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	405	14
RNF170	81790	broad.mit.edu	37	8	42725169	42725169	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42725169G>T	ENST00000534961.1	-	4	776	c.300C>A	c.(298-300)acC>acA	p.T100T	RNF170_ENST00000527424.1_Silent_p.T100T|RNF170_ENST00000526349.1_Silent_p.T16T|RNF170_ENST00000319104.3_Silent_p.T100T|RNF170_ENST00000319073.4_Missense_Mutation_p.P29Q	NM_001160223.1	NP_001153695.1	Q96K19	RN170_HUMAN	ring finger protein 170	100						integral to membrane	zinc ion binding			lung(3)	3	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GTCCACAGTTGGTCTCCACCG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	129	139			NA	NA	8		NA											NA				42725169		2203	4300	6503	SO:0001819	synonymous_variant			AL136620	CCDS6138.1, CCDS55229.1, CCDS55230.1	8p11.21	2014-01-29				ENSG00000120925	81790	81790		RING-type (C3HC4) zinc fingers	25358	protein-coding gene	gene with protein product		614649	sensory ataxia 1 (autosomal dominant)	SNAX1	NA	11230166, 21115467	Standard	NM_030954	NR_027668	NA	Approved	DKFZP564A022, ADSA	uc003xpm.3	Q96K19		ENST00000534961.1:c.300C>A	8.37:g.42725169G>T		NA	D3DSY6|Q7Z483|Q86YC0|Q8IXR7|Q8N2B5|Q8N5G9|Q8NG30|Q9H0V6	37	CCDS6138.1	.	.	.	.	.	.	.	.	.	.	G	7.860	0.725791	0.15439	.	.	ENSG00000120925	ENST00000319073	T	0.80123	-1.34	5.63	-11.3	0.00108	.	.	.	.	.	T	0.62998	0.2474	.	.	.	0.22591	N	0.998954	B	0.02656	0.0	B	0.04013	0.001	T	0.45425	-0.9262	8	0.32370	T	0.25	-4.8576	11.8869	0.52608	0.0:0.1664:0.5815:0.2521	.	29	Q96K19-4	.	Q	29	ENSP00000325969:P29Q	ENSP00000325969:P29Q	P	-	2	0	RNF170	42844326	0.236000	0.23804	0.671000	0.29857	0.242000	0.25591	-0.794000	0.04584	-1.920000	0.01069	-1.085000	0.02201	CCA	RNF170-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383166.1		-	ENST00000534961.1	Silent	SNP	8 : 42725169 - 42725169 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	195	32
CACNA1A	773	broad.mit.edu	37	19	13356068	13356068	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13356068G>A	ENST00000360228.5	-	31	4877	c.4878C>T	c.(4876-4878)cgC>cgT	p.R1626R	CACNA1A_ENST00000573710.2_Silent_p.R1627R|CACNA1A_ENST00000574822.1_5'UTR	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1627					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TCCAGGCATCGCGGAAATAAT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	79	80			NA	NA	19		NA											NA				13356068		1946	4136	6082	SO:0001819	synonymous_variant			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837	773	773		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP	NA	8825650, 16382099, 23827678	Standard	NM_000068	NM_000068	NA	Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.4878C>T	19.37:g.13356068G>A		NA	P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9UDC4	37	CCDS45998.1																																																																																			CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000104062.2		-	ENST00000360228.5	Silent	SNP	19 : 13356068 - 13356068 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	304	42
GABRB2	2561	broad.mit.edu	37	5	160721349	160721349	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:160721349G>A	ENST00000393959.1	-	10	1277	c.1278C>T	c.(1276-1278)gaC>gaT	p.D426D	GABRB2_ENST00000517901.1_Silent_p.D325D|GABRB2_ENST00000353437.6_Silent_p.D388D|GABRB2_ENST00000274547.2_Silent_p.D426D|GABRB2_ENST00000517547.1_Silent_p.D228D|GABRB2_ENST00000520240.1_Silent_p.D388D			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	426					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TGCTTCTGGGGTCTCCAAGTC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	105	108			NA	NA	5		NA											NA				160721349		2203	4300	6503	SO:0001819	synonymous_variant				CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864	NA	2561		GABA receptors, Ligand-gated ion channels / GABA(A) receptors	4082	protein-coding gene	gene with protein product	GABA(A) receptor, beta 2	600232			NA	7851879	Standard		NM_000813	NA	Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.1278C>T	5.37:g.160721349G>A		NA	A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	37	CCDS4355.1																																																																																			GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252704.1		-	ENST00000393959.1	Silent	SNP	5 : 160721349 - 160721349 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	545	111
FGF14	2259	broad.mit.edu	37	13	102568812	102568812	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:102568812G>A	ENST00000376143.4	-	1	183	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	FGF14_ENST00000376131.4_Intron	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	62					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCTTGGCGCCGCAACCTGCGC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	45	44			NA	NA	13		NA											NA				102568812		2203	4300	6503	SO:0001583	missense				CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466	2259	2259			3671	protein-coding gene	gene with protein product		601515			NA	8790420, 17236779	Standard		NM_175929	NA	Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.184C>T	13.37:g.102568812G>A	ENSP00000365313:p.Arg62Trp	NA	Q86YN7|Q96QX6	37	CCDS9501.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726908	0.48833	.	.	ENSG00000102466	ENST00000376143	T	0.78595	-1.19	5.36	4.51	0.55191	.	.	.	.	.	D	0.83538	0.5276	L	0.58810	1.83	0.32606	N	0.525298	D	0.71674	0.998	D	0.63793	0.918	D	0.86464	0.1781	9	0.72032	D	0.01	.	11.0126	0.47671	0.0:0.1403:0.7139:0.1458	.	62	Q92915	FGF14_HUMAN	W	62	ENSP00000365313:R62W	ENSP00000365313:R62W	R	-	1	2	FGF14	101366813	1.000000	0.71417	1.000000	0.80357	0.159000	0.22180	2.877000	0.48506	1.226000	0.43582	0.563000	0.77884	CGG	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045679.2		-	ENST00000376143.4	Missense_Mutation	SNP	13 : 102568812 - 102568812 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	396	63
TEX11	56159	broad.mit.edu	37	X	69843825	69843825	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69843825C>T	ENST00000395889.2	-	21	1926	c.1771G>A	c.(1771-1773)Gct>Act	p.A591T	TEX11_ENST00000374320.2_Missense_Mutation_p.A266T|TEX11_ENST00000344304.3_Missense_Mutation_p.A591T|TEX11_ENST00000374333.2_Missense_Mutation_p.A576T	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	591							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					GGCATTTCAGCAATTTTTGGA	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	88	89			NA	NA	X		NA											NA				69843825		2203	4300	6503	SO:0001583	missense			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498	NA	56159			11733	protein-coding gene	gene with protein product		300311	testis expressed sequence 11		NA	11279525	Standard		NM_001003811	NA	Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1771G>A	X.37:g.69843825C>T	ENSP00000379226:p.Ala591Thr	NA	A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	37	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	C	1.495	-0.553547	0.03996	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	3.78	-6.73	0.01749	.	1.295100	0.05298	N	0.522521	T	0.21468	0.0517	N	0.22421	0.69	0.09310	N	1	B;B	0.24426	0.103;0.063	B;B	0.28011	0.085;0.039	T	0.16600	-1.0397	9	.	.	.	.	0.3425	0.00336	0.2225:0.2971:0.2025:0.2779	.	576;591	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	T	576;591;266;591	ENSP00000363453:A576T;ENSP00000379226:A591T;ENSP00000363440:A266T;ENSP00000340995:A591T	.	A	-	1	0	TEX11	69760550	0.025000	0.19082	0.000000	0.03702	0.016000	0.09150	0.073000	0.14640	-1.777000	0.01283	-0.465000	0.05216	GCT	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359072.1		-	ENST00000395889.2	Missense_Mutation	SNP	X : 69843825 - 69843825 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	290	74
EPHA5	2044	broad.mit.edu	37	4	66361172	66361172	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:66361172T>A	ENST00000273854.3	-	4	1600	c.1000A>T	c.(1000-1002)Acc>Tcc	p.T334S	EPHA5_ENST00000511294.1_Missense_Mutation_p.T334S|EPHA5_ENST00000354839.4_Missense_Mutation_p.T334S|EPHA5_ENST00000432638.2_Intron	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	334	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ACACAAGAGGTTGAAGCTTCC	0.478		NA								TSP Lung(17;0.13)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	163	164			NA	NA	4		NA											NA				66361172		2203	4300	6503	SO:0001583	missense			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242	2044	2044		EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3389	protein-coding gene	gene with protein product		600004	EphA5		NA	9267020, 7528718	Standard	NM_004439	NM_004439	NA	Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1000A>T	4.37:g.66361172T>A	ENSP00000273854:p.Thr334Ser	NA	Q7Z3F2	37	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	T	12.71	2.018682	0.35606	.	.	ENSG00000145242	ENST00000273854;ENST00000354839;ENST00000511294	T;T;D	0.97378	1.64;1.64;-4.36	5.84	5.84	0.93424	.	0.000000	0.56097	D	0.000036	D	0.95095	0.8411	L	0.33668	1.02	0.29807	N	0.831938	B;B;P;B	0.35507	0.373;0.024;0.506;0.021	B;B;B;B	0.43123	0.232;0.016;0.409;0.012	D	0.90807	0.4698	10	0.15066	T	0.55	.	16.2231	0.82269	0.0:0.0:0.0:1.0	.	334;334;334;334	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	S	334	ENSP00000273854:T334S;ENSP00000346899:T334S;ENSP00000427638:T334S	ENSP00000273854:T334S	T	-	1	0	EPHA5	66043767	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.137000	0.50562	2.235000	0.73313	0.377000	0.23210	ACC	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251388.2		-	ENST00000273854.3	Missense_Mutation	SNP	4 : 66361172 - 66361172 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	590	124
NAV3	89795	broad.mit.edu	37	12	78583834	78583834	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78583834C>A	ENST00000397909.2	+	34	6299	c.6126C>A	c.(6124-6126)taC>taA	p.Y2042*	NAV3_ENST00000228327.6_Nonsense_Mutation_p.Y2020*|NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000266692.7_Nonsense_Mutation_p.Y1843*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.Y2020*			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2042						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCCAAAGGTACTTTAACTTGT	0.358		NA								HNSCC(70;0.22)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	98	101			NA	NA	12		NA											NA				78583834		1925	4150	6075	SO:0001587	stop_gained			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798	89795	89795			15998	protein-coding gene	gene with protein product	pore membrane and/or filament interacting like protein 1, steerin 3	611629			NA	12079279, 12062803	Standard	NM_001024383	XM_005269215	NA	Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6126C>A	12.37:g.78583834C>A	ENSP00000381007:p.Tyr2042*	NA	Q8NFW7|Q9Y2E7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	47|47	13.205461|13.205461	0.99727|0.99727	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000552895|ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	.|.	.|.	.|.	5.03|5.03	3.13|3.13	0.36017|0.36017	.|.	.|0.000000	.|0.36703	.|U	.|0.002448	T|.	0.30885|.	0.0779|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.12889|.	-1.0530|.	4|.	.|0.02654	.|T	.|1	-6.2545|-6.2545	10.4374|10.4374	0.44443|0.44443	0.0:0.8325:0.0:0.1675|0.0:0.8325:0.0:0.1675	.|.	.|.	.|.	.|.	I|X	915|2020;2042;2020;1843;634;642	.|.	.|ENSP00000228327:Y2020X	L|Y	+|+	1|3	0|2	NAV3|NAV3	77107965|77107965	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.117000|2.117000	0.41939|0.41939	0.575000|0.575000	0.29434|0.29434	0.655000|0.655000	0.94253|0.94253	CTT|TAC	NAV3-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000406812.1		+	ENST00000397909.2	Nonsense_Mutation	SNP	12 : 78583834 - 78583834 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	497	70
WDR1	9948	broad.mit.edu	37	4	10100706	10100706	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:10100706T>C	ENST00000499869.2	-	4	480	c.287A>G	c.(286-288)tAt>tGt	p.Y96C	WDR1_ENST00000382451.2_Intron|WDR1_ENST00000382452.2_Missense_Mutation_p.Y96C|WDR1_ENST00000502702.1_Intron			O75083	WDR1_HUMAN	WD repeat domain 1	96					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CTGGTACTCATACTTCAACAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	118	117			NA	NA	4		NA											NA				10100706		2011	4187	6198	SO:0001583	missense			AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127	9948	9948		WD repeat domain containing	12754	protein-coding gene	gene with protein product		604734			NA	10036186	Standard		NM_017491	NA	Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.287A>G	4.37:g.10100706T>C	ENSP00000427687:p.Tyr96Cys	NA	A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	37	CCDS54740.1	.	.	.	.	.	.	.	.	.	.	T	19.79	3.892974	0.72524	.	.	ENSG00000071127	ENST00000499869;ENST00000382452;ENST00000508079	T;T;T	0.56103	0.48;0.48;0.57	5.91	4.7	0.59300	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.059555	0.64402	D	0.000001	T	0.70613	0.3244	M	0.80616	2.505	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.70821	-0.4768	10	0.39692	T	0.17	-14.3005	11.6533	0.51301	0.1329:0.0:0.0:0.8671	.	96	O75083	WDR1_HUMAN	C	96;96;100	ENSP00000427687:Y96C;ENSP00000371890:Y96C;ENSP00000425481:Y100C	ENSP00000371890:Y96C	Y	-	2	0	WDR1	9709804	1.000000	0.71417	0.998000	0.56505	0.934000	0.57294	7.662000	0.83803	1.017000	0.39495	0.533000	0.62120	TAT	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359877.1		-	ENST00000499869.2	Missense_Mutation	SNP	4 : 10100706 - 10100706 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	452	57
PAX4	5078	broad.mit.edu	37	7	127255125	127255125	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127255125T>C	ENST00000341640.2	-	2	350	c.145A>G	c.(145-147)Atc>Gtc	p.I49V	PAX4_ENST00000463946.1_Missense_Mutation_p.I47V|PAX4_ENST00000338516.3_Missense_Mutation_p.I57V|PAX4_ENST00000378740.2_Missense_Mutation_p.I49V	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	57	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CGCCCTAGGATCTTGCTCACA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(113;737 1605 7858 27720 34092)							NA				0													76	72	74			NA	NA	7		NA											NA				127255125		2203	4300	6503	SO:0001583	missense				CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331	5078	5078		Paired boxes, Homeoboxes / PRD class	8618	protein-coding gene	gene with protein product		167413	paired box gene 4		NA		Standard		NM_006193	NA	Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.145A>G	7.37:g.127255125T>C	ENSP00000339906:p.Ile49Val	NA	O95161|Q6B0H0	37	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.700177	0.88924	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740;ENST00000463946	D;D;D	0.99519	-5.86;-5.86;-6.07	5.73	5.73	0.89815	Paired box protein, N-terminal (4);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99486	0.9817	M	0.82323	2.585	0.58432	D	0.999991	D;D;D;D	0.89917	1.0;0.987;0.988;0.999	D;D;D;D	0.91635	0.999;0.983;0.99;0.995	D	0.98442	1.0587	10	0.87932	D	0	.	13.9767	0.64277	0.0:0.0:0.0:1.0	.	49;47;57;47	O43316-4;Q1W386;O43316;G3V4Q1	.;.;PAX4_HUMAN;.	V	49;57;57;47	ENSP00000339906:I49V;ENSP00000344297:I57V;ENSP00000451923:I47V	ENSP00000344297:I57V	I	-	1	0	PAX4	127042361	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.902000	0.87389	2.175000	0.68902	0.533000	0.62120	ATC	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349165.1		-	ENST00000341640.2	Missense_Mutation	SNP	7 : 127255125 - 127255125 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	510	89
CEACAM16	388551	broad.mit.edu	37	19	45213775	45213775	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45213775G>A	ENST00000405314.2	+	6	1372	c.1275G>A	c.(1273-1275)ggG>ggA	p.G425G	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000587331.1_Silent_p.G425G			A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	425										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				CAGCCCTGGGGTAACAGCGTG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	106	103			NA	NA	19		NA											NA				45213775		2010	4161	6171	SO:0001819	synonymous_variant				CCDS54278.1	19q13.31	2014-01-27			ENSG00000213892	ENSG00000213892	388551	388551		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	31948	protein-coding gene	gene with protein product		614591			NA	21368133	Standard	XM_371177	NM_001039213	NA	Approved	DFNA4B	uc010xxd.2	Q2WEN9	OTTHUMG00000151519	ENST00000405314.2:c.1275G>A	19.37:g.45213775G>A		NA		37	CCDS54278.1																																																																																			CEACAM16-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding			+	ENST00000405314.2	Silent	SNP	19 : 45213775 - 45213775 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	772	135
CLEC14A	161198	broad.mit.edu	37	14	38724650	38724650	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38724650C>T	ENST00000342213.2	-	1	924	c.578G>A	c.(577-579)cGc>cAc	p.R193H		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	193						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GAAGGGCGCGCGATAGCTCAA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	41	41			NA	NA	14		NA											NA				38724650		2197	4288	6485	SO:0001583	missense				CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435	161198	161198		C-type lectin domain containing	19832	protein-coding gene	gene with protein product			chromosome 14 open reading frame 27	C14orf27	NA		Standard	NM_175060	NM_175060	NA	Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.578G>A	14.37:g.38724650C>T	ENSP00000353013:p.Arg193His	NA	Q695G9|Q6PWT6|Q8N5V5	37	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531589	0.64972	.	.	ENSG00000176435	ENST00000342213	T	0.74526	-0.85	4.13	1.2	0.21068	.	0.742908	0.11393	N	0.568573	T	0.55081	0.1898	N	0.24115	0.695	0.27874	N	0.939923	B	0.28082	0.2	B	0.21917	0.037	T	0.47935	-0.9078	10	0.51188	T	0.08	-3.0414	4.3188	0.11007	0.181:0.6143:0.0:0.2047	.	193	Q86T13	CLC14_HUMAN	H	193	ENSP00000353013:R193H	ENSP00000353013:R193H	R	-	2	0	CLEC14A	37794401	0.009000	0.17119	0.980000	0.43619	0.982000	0.71751	-0.147000	0.10234	0.268000	0.21939	0.591000	0.81541	CGC	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276729.1		-	ENST00000342213.2	Missense_Mutation	SNP	14 : 38724650 - 38724650 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	636	132
COL8A2	1296	broad.mit.edu	37	1	36563679	36563679	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36563679C>T	ENST00000397799.1	-	4	1827	c.1603G>A	c.(1603-1605)Gcc>Acc	p.A535T	COL8A2_ENST00000481785.1_Missense_Mutation_p.A470T|COL8A2_ENST00000303143.4_Missense_Mutation_p.A535T			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	535	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCATCGAAGGCCCCAGGGGCA	0.746		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													7	9	8			NA	NA	1		NA											NA				36563679		2114	4176	6290	SO:0001583	missense			M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812	1296	1296		Collagens	2216	protein-coding gene	gene with protein product		120252		FECD	NA	11689488	Standard	NM_005202	XM_005270477	NA	Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.1603G>A	1.37:g.36563679C>T	ENSP00000380901:p.Ala535Thr	NA	Q5JV31|Q8TEJ5	37	CCDS403.1	.	.	.	.	.	.	.	.	.	.	C	5.333	0.246784	0.10130	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785;ENST00000373172	D;D;D	0.94280	-3.39;-3.39;-3.39	3.85	0.904	0.19302	.	0.539335	0.16818	N	0.198300	D	0.86527	0.5954	L	0.38649	1.16	0.29604	N	0.847453	B	0.02656	0.0	B	0.01281	0.0	T	0.73193	-0.4060	10	0.12766	T	0.61	.	9.4277	0.38590	0.0:0.7447:0.0:0.2553	.	535	P25067	CO8A2_HUMAN	T	535;535;470;259	ENSP00000305913:A535T;ENSP00000380901:A535T;ENSP00000436433:A470T	ENSP00000305913:A535T	A	-	1	0	COL8A2	36336266	0.412000	0.25392	0.817000	0.32601	0.560000	0.35617	0.763000	0.26517	0.419000	0.25927	0.462000	0.41574	GCC	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313674.1		-	ENST00000397799.1	Missense_Mutation	SNP	1 : 36563679 - 36563679 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	89	11
FAT3	120114	broad.mit.edu	37	11	92531437	92531437	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92531437C>A	ENST00000525166.1	+	9	4830	c.4808C>A	c.(4807-4809)gCt>gAt	p.A1603D	FAT3_ENST00000409404.2_Missense_Mutation_p.A1753D|FAT3_ENST00000298047.6_Missense_Mutation_p.A1753D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1753	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCTTCCAATGCTACAGTCAAT	0.443		NA								TCGA Ovarian(4;0.039)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	62	62			NA	NA	11		NA											NA				92531437		1936	4128	6064	SO:0001583	missense			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323	120114	120114		Cadherins / Cadherin-related	23112	protein-coding gene	gene with protein product	cadherin-related family member 10	612483	FAT tumor suppressor homolog 3 (Drosophila)		NA	11811999	Standard	NM_001008781	NM_001008781	NA	Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000525166.1:c.4808C>A	11.37:g.92531437C>A	ENSP00000432586:p.Ala1603Asp	NA	B5MDB0|Q96AU6	37		.	.	.	.	.	.	.	.	.	.	C	19.24	3.789713	0.70337	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.56611	0.45;0.45;0.45	5.93	3.93	0.45458	.	.	.	.	.	T	0.69753	0.3146	H	0.94222	3.51	0.80722	D	1	P	0.51147	0.942	P	0.48795	0.59	T	0.77178	-0.2683	9	0.72032	D	0.01	.	12.0978	0.53765	0.0:0.894:0.0:0.106	.	1753	Q8TDW7-3	.	D	1753;1753;1603	ENSP00000298047:A1753D;ENSP00000387040:A1753D;ENSP00000432586:A1603D	ENSP00000298047:A1753D	A	+	2	0	FAT3	92171085	1.000000	0.71417	0.969000	0.41365	0.809000	0.45718	2.661000	0.46758	0.711000	0.32018	0.591000	0.81541	GCT	FAT3-001	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000335363.3		+	ENST00000525166.1	Missense_Mutation	SNP	11 : 92531437 - 92531437 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	256	12
SYNE1	23345	broad.mit.edu	37	6	152738006	152738006	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152738006C>T	ENST00000367255.5	-	41	6167	c.5566G>A	c.(5566-5568)Gcc>Acc	p.A1856T	SYNE1_ENST00000423061.1_Missense_Mutation_p.A1863T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1893T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1863T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1856T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1856					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACCTGGCTGGCCTCCTCAAAC	0.602		NA								HNSCC(10;0.0054)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	73	73			NA	NA	6		NA											NA				152738006		2203	4300	6503	SO:0001583	missense			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018	23345	23345			17089	protein-coding gene	gene with protein product	myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1	608441	chromosome 6 open reading frame 98	C6orf98	NA	9872452, 10878022	Standard	NM_182961	NM_182961	NA	Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.5566G>A	6.37:g.152738006C>T	ENSP00000356224:p.Ala1856Thr	NA	O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	19.86	3.904732	0.72868	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37	6.16	5.3	0.74995	.	0.000000	0.64402	D	0.000007	T	0.41396	0.1157	M	0.64997	1.995	0.80722	D	1	P;D;D;D	0.62365	0.874;0.991;0.991;0.98	B;P;P;P	0.56960	0.223;0.78;0.78;0.81	T	0.32771	-0.9894	10	0.42905	T	0.14	.	15.7724	0.78180	0.0:0.935:0.0:0.065	.	1839;1856;1856;1863	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	T	1856;1863;1856;1863;1893	ENSP00000356224:A1856T;ENSP00000396024:A1863T;ENSP00000265368:A1856T;ENSP00000390975:A1863T;ENSP00000341887:A1893T	ENSP00000265368:A1856T	A	-	1	0	SYNE1	152779699	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.785000	0.68998	1.623000	0.50342	0.650000	0.86243	GCC	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334755.2		-	ENST00000367255.5	Missense_Mutation	SNP	6 : 152738006 - 152738006 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	476	95
COG2	22796	broad.mit.edu	37	1	230820883	230820883	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230820883G>A	ENST00000534989.1	+	12	1439	c.1104G>A	c.(1102-1104)agG>agA	p.R368R	COG2_ENST00000535166.1_Silent_p.R311R|COG2_ENST00000366668.3_Silent_p.R427R|COG2_ENST00000546013.1_Silent_p.R116R|COG2_ENST00000366669.4_Silent_p.R427R			Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	427					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GCAGCCTTAGGAGGTGTTGGT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													265	234	244			NA	NA	1		NA											NA				230820883		2203	4300	6503	SO:0001819	synonymous_variant			Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775	22796	22796		Components of oligomeric golgi complex	6546	protein-coding gene	gene with protein product		606974	low density lipoprotein receptor defect C complementing	LDLC	NA	7962052	Standard	NM_007357	NM_007357	NA	Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000534989.1:c.1104G>A	1.37:g.230820883G>A		NA		37																																																																																				COG2-010	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000472446.1		+	ENST00000534989.1	Silent	SNP	1 : 230820883 - 230820883 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	836	137
SNRNP48	154007	broad.mit.edu	37	6	7606277	7606277	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7606277C>T	ENST00000342415.5	+	8	879	c.820C>T	c.(820-822)Cga>Tga	p.R274*		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	274					mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TGAAGAAAGGCGATCAGCTTC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	113	114			NA	NA	6		NA											NA				7606277		2203	4300	6503	SO:0001587	stop_gained			AK056796	CCDS4502.1	6p24.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000168566	ENSG00000168566	154007	154007			21368	protein-coding gene	gene with protein product	U11/U12 snRNP 48K		chromosome 6 open reading frame 151	C6orf151	NA	15146077	Standard	NM_152551	XR_427825	NA	Approved	FLJ32234, dJ512B11.2, dJ336K20B.1	uc003mxr.3	Q6IEG0	OTTHUMG00000014213	ENST00000342415.5:c.820C>T	6.37:g.7606277C>T	ENSP00000339834:p.Arg274*	NA	A8K8P4|Q14C91|Q5T339|Q5THM1|Q5THM2|Q96MK1	37	CCDS4502.1	.	.	.	.	.	.	.	.	.	.	C	34	5.389206	0.95988	.	.	ENSG00000168566	ENST00000342415	.	.	.	5.75	2.96	0.34315	.	0.062472	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.92	4.1917	0.10424	0.286:0.4992:0.1385:0.0763	.	.	.	.	X	274	.	ENSP00000339834:R274X	R	+	1	2	SNRNP48	7551276	0.983000	0.35010	0.295000	0.24960	0.948000	0.59901	0.413000	0.21148	0.337000	0.23665	-0.152000	0.13540	CGA	SNRNP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039787.3		+	ENST00000342415.5	Nonsense_Mutation	SNP	6 : 7606277 - 7606277 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	538	83
PNPLA6	10908	broad.mit.edu	37	19	7606952	7606952	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7606952A>G	ENST00000221249.6	+	13	1565	c.1134A>G	c.(1132-1134)tcA>tcG	p.S378S	PNPLA6_ENST00000414982.3_Splice_Site_p.S426S|PNPLA6_ENST00000600737.1_Splice_Site_p.S417S|PNPLA6_ENST00000545201.2_Splice_Site_p.S378S|PNPLA6_ENST00000450331.3_Splice_Site_p.S378S	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	417					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GGGACATCTCAGGTTTGGAGC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	39	40			NA	NA	19		NA											NA				7606952		2203	4300	6503	SO:0001630	splice_region_variant			AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11					10908	10908		Patatin-like phospholipase domain containing	16268	protein-coding gene	gene with protein product	neuropathy target esterase	603197			NA	9576844, 16799181, 19029121	Standard	NM_006702	NM_006702	NA	Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1135+1A>G	19.37:g.7606952A>G		NA	A6NGQ0|O60859|Q86W58|Q9UG58	37	CCDS32891.1																																																																																			PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459275.1	Silent	+	ENST00000221249.6	Splice_Site	SNP	19 : 7606952 - 7606952 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	61
RIN3	79890	broad.mit.edu	37	14	93119069	93119069	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93119069C>A	ENST00000216487.7	+	6	1834	c.1675C>A	c.(1675-1677)Ctg>Atg	p.L559M	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	559					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GGAGGAGGAGCTGGAGCAGTT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	52	55			NA	NA	14		NA											NA				93119069		2203	4300	6503	SO:0001583	missense			BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599	79890	79890			18751	protein-coding gene	gene with protein product		610223			NA	11733506	Standard		NM_024832	NA	Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.1675C>A	14.37:g.93119069C>A	ENSP00000216487:p.Leu559Met	NA	Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	37	CCDS32144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.48|12.48	1.949714|1.949714	0.34377|0.34377	.|.	.|.	ENSG00000100599|ENSG00000100599	ENST00000556418|ENST00000216487;ENST00000428147	.|T	.|0.06371	.|3.31	4.58|4.58	3.62|3.62	0.41486|0.41486	.|.	.|0.882755	.|0.09617	.|N	.|0.778156	T|T	0.18635|0.18635	0.0447|0.0447	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|D;D;P;D	.|0.71674	.|0.998;0.971;0.94;0.997	.|D;P;P;P	.|0.67548	.|0.952;0.751;0.641;0.85	T|T	0.06570|0.06570	-1.0819|-1.0819	5|10	.|0.19147	.|T	.|0.46	-4.07|-4.07	14.0183|14.0183	0.64539|0.64539	0.0:0.848:0.152:0.0|0.0:0.848:0.152:0.0	.|.	.|559;605;484;559	.|Q8TB24-4;Q86U22;Q6ZRC2;Q8TB24	.|.;.;.;RIN3_HUMAN	D|M	75|559;483	.|ENSP00000216487:L559M	.|ENSP00000216487:L559M	A|L	+|+	2|1	0|2	RIN3|RIN3	92188822|92188822	0.001000|0.001000	0.12720|0.12720	0.994000|0.994000	0.49952|0.49952	0.627000|0.627000	0.37826|0.37826	0.056000|0.056000	0.14256|0.14256	2.117000|2.117000	0.64856|0.64856	0.561000|0.561000	0.74099|0.74099	GCT|CTG	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412269.1		+	ENST00000216487.7	Missense_Mutation	SNP	14 : 93119069 - 93119069 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	295	31
WNT8A	7478	broad.mit.edu	37	5	137424756	137424756	+	Missense_Mutation	SNP	C	C	A	rs62383479		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137424756C>A	ENST00000506684.1	+	4	798	c.562C>A	c.(562-564)Ctg>Atg	p.L188M	WNT8A_ENST00000398754.1_Missense_Mutation_p.L170M			Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	170					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGCCGGCAGACTGGTGGGTAT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	110	106			NA	NA	5		NA											NA				137424756		2203	4300	6503	SO:0001583	missense			AB057725	CCDS43368.1, CCDS75311.1	5q31	2008-07-18			ENSG00000061492	ENSG00000061492	7478	7478		Wingless-type MMTV integration sites	12788	protein-coding gene	gene with protein product		606360			NA	11408932	Standard	NM_058244	XM_005272076	NA	Approved	WNT8D	uc003lcd.1	Q9H1J5	OTTHUMG00000129196	ENST00000506684.1:c.562C>A	5.37:g.137424756C>A	ENSP00000426653:p.Leu188Met	NA	Q96S51	37		.	.	.	.	.	.	.	.	.	.	C	19.78	3.891650	0.72524	.	.	ENSG00000061492	ENST00000506684;ENST00000504809;ENST00000398754	T;T;T	0.76316	-1.01;-1.01;-1.01	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.84942	0.5584	L	0.52759	1.655	0.80722	D	1	D;D;D	0.64830	0.979;0.979;0.994	D;D;D	0.65140	0.913;0.913;0.932	D	0.84319	0.0515	10	0.52906	T	0.07	.	19.5787	0.95455	0.0:1.0:0.0:0.0	rs62383479	188;188;170	D6RF47;D6RF94;Q9H1J5	.;.;WNT8A_HUMAN	M	188;188;170	ENSP00000426653:L188M;ENSP00000424809:L188M;ENSP00000381739:L170M	ENSP00000354726:L170M	L	+	1	2	WNT8A	137452655	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.547000	0.45786	2.941000	0.99782	0.655000	0.94253	CTG	WNT8A-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000372393.1		+	ENST00000506684.1	Missense_Mutation	SNP	5 : 137424756 - 137424756 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	731	140
ZBTB26	57684	broad.mit.edu	37	9	125681859	125681859	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125681859A>G	ENST00000373656.3	-	2	428	c.355T>C	c.(355-357)Tgc>Cgc	p.C119R	ZBTB26_ENST00000373654.1_Missense_Mutation_p.C119R	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						GCCTGTGTGCACCGTTCTACA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	120	125			NA	NA	9		NA											NA				125681859		2203	4300	6503	SO:0001583	missense			AB046792	CCDS6847.1	9q34.11	2013-01-08	2004-04-15	2004-04-16	ENSG00000171448	ENSG00000171448	57684	57684		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	23383	protein-coding gene	gene with protein product			zinc finger protein 481	ZNF481	NA		Standard	NM_020924	NM_020924	NA	Approved		uc004bnk.3	Q9HCK0	OTTHUMG00000020627	ENST00000373656.3:c.355T>C	9.37:g.125681859A>G	ENSP00000362760:p.Cys119Arg	NA	B3KQ53|Q8WTR1	37	CCDS6847.1	.	.	.	.	.	.	.	.	.	.	A	15.85	2.955099	0.53293	.	.	ENSG00000171448	ENST00000373656;ENST00000373654	T;T	0.33438	1.41;1.41	5.54	5.54	0.83059	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.66396	0.2785	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76647	-0.2882	10	0.87932	D	0	.	15.6989	0.77528	1.0:0.0:0.0:0.0	.	119	Q9HCK0	ZBT26_HUMAN	R	119	ENSP00000362760:C119R;ENSP00000362758:C119R	ENSP00000362758:C119R	C	-	1	0	ZBTB26	124721680	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	8.962000	0.93254	2.107000	0.64212	0.482000	0.46254	TGC	ZBTB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053960.1		-	ENST00000373656.3	Missense_Mutation	SNP	9 : 125681859 - 125681859 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	595	49
TTC17	55761	broad.mit.edu	37	11	43418341	43418341	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43418341C>T	ENST00000039989.4	+	6	760	c.746C>T	c.(745-747)gCc>gTc	p.A249V	TTC17_ENST00000299240.6_Missense_Mutation_p.A249V|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	249							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GTAGAATGTGCCATGCGAGCA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	126	130			NA	NA	11		NA											NA				43418341		2202	4300	6502	SO:0001583	missense			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.746C>T	11.37:g.43418341C>T	ENSP00000039989:p.Ala249Val	NA		37	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.398035	0.25205	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.54071	0.59;0.59	5.6	5.6	0.85130	.	0.096585	0.64402	D	0.000001	T	0.38665	0.1049	N	0.11064	0.09	0.45227	D	0.998237	B;B;B	0.11235	0.001;0.004;0.002	B;B;B	0.16722	0.005;0.007;0.016	T	0.13176	-1.0519	10	0.37606	T	0.19	-8.1257	19.5958	0.95536	0.0:1.0:0.0:0.0	.	249;249;249	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	V	249	ENSP00000299240:A249V;ENSP00000039989:A249V	ENSP00000039989:A249V	A	+	2	0	TTC17	43374917	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.800000	0.69108	2.806000	0.96561	0.655000	0.94253	GCC	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389577.2		+	ENST00000039989.4	Missense_Mutation	SNP	11 : 43418341 - 43418341 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	55
ARHGAP35	2909	broad.mit.edu	37	19	47424817	47424817	+	Missense_Mutation	SNP	G	G	A	rs140857154	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47424817G>A	ENST00000404338.3	+	1	2885	c.2885G>A	c.(2884-2886)aGc>aAc	p.S962N		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	962					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity				NA						GAGGCCTGTAGCACCACCGAA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	62	62			NA	NA	19		NA											NA				47424817		1925	4128	6053	SO:0001583	missense			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007	2909	2909		Rho GTPase activating proteins	4591	protein-coding gene	gene with protein product		605277	glucocorticoid receptor DNA binding factor 1	GRLF1	NA	1894621, 20675588	Standard	NM_004491	NM_004491	NA	Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2885G>A	19.37:g.47424817G>A	ENSP00000385720:p.Ser962Asn	NA	A7E2A4|Q14452|Q9C0E1	37	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	3.533	-0.095276	0.07010	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.07114	3.22	5.86	5.86	0.93980	.	0.132298	0.64402	D	0.000001	T	0.07908	0.0198	L	0.29908	0.895	0.36519	D	0.870073	P	0.36392	0.551	B	0.37144	0.242	T	0.13388	-1.0511	10	0.06494	T	0.89	-31.9416	18.9487	0.92632	0.0:0.0:1.0:0.0	.	962	Q9NRY4-2	.	N	962	ENSP00000385720:S962N	ENSP00000324820:S962N	S	+	2	0	ARHGAP35	52116657	0.608000	0.26966	1.000000	0.80357	0.990000	0.78478	1.000000	0.29770	2.778000	0.95560	0.655000	0.94253	AGC	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466652.1		+	ENST00000404338.3	Missense_Mutation	SNP	19 : 47424817 - 47424817 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	365	76
SH3BP1	23616	broad.mit.edu	37	22	38043329	38043329	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38043329C>T	ENST00000357436.4	+	12	1405	c.1092C>T	c.(1090-1092)ctC>ctT	p.L364L	SH3BP1_ENST00000599616.1_Silent_p.L300L|SH3BP1_ENST00000442465.2_Silent_p.L364L|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000336738.5_Silent_p.L364L	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	364	Rho-GAP.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CCTTCGACCTCTATGATGACT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	113	113			NA	NA	22		NA											NA				38043329		2203	4300	6503	SO:0001819	synonymous_variant				CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092	23616	23616		Rho GTPase activating proteins	10824	protein-coding gene	gene with protein product					NA	10591208, 12029088	Standard	NM_018957	NM_018957	NA	Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.1092C>T	22.37:g.38043329C>T		NA	Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	37	CCDS13952.2																																																																																			SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075884.4		+	ENST00000357436.4	Silent	SNP	22 : 38043329 - 38043329 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	681	23
VPS13A	23230	broad.mit.edu	37	9	79908284	79908284	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79908284T>C	ENST00000360280.3	+	32	3627	c.3367T>C	c.(3367-3369)Ttc>Ctc	p.F1123L	VPS13A_ENST00000376636.3_Missense_Mutation_p.F1084L|VPS13A_ENST00000376634.4_Missense_Mutation_p.F1123L|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000357409.5_Missense_Mutation_p.F1123L	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1123					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAAAGAAGTTTTCAGCTTCAA	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	109	108			NA	NA	9		NA											NA				79908284		2203	4299	6502	SO:0001583	missense			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969	23230	23230			1908	protein-coding gene	gene with protein product	chorein	605978	chorea acanthocytosis, vacuolar protein sorting 13A (yeast)	CHAC	NA	9382101, 11381253	Standard	NM_015186	NM_001018038	NA	Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.3367T>C	9.37:g.79908284T>C	ENSP00000353422:p.Phe1123Leu	NA	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.656337	0.88056	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.40476	1.19;1.03;1.1;1.19	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.59390	0.2190	M	0.63843	1.955	0.80722	D	1	P;D;D;D	0.89917	0.924;0.998;1.0;1.0	P;D;D;D	0.91635	0.635;0.99;0.999;0.999	T	0.55062	-0.8199	10	0.15499	T	0.54	.	15.4213	0.75015	0.0:0.0:0.0:1.0	.	1084;1123;1123;1123	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	L	1123;1084;1123;1123	ENSP00000365821:F1123L;ENSP00000365823:F1084L;ENSP00000353422:F1123L;ENSP00000349985:F1123L	ENSP00000349985:F1123L	F	+	1	0	VPS13A	79098104	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.553000	0.82203	2.064000	0.61679	0.397000	0.26171	TTC	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052753.2		+	ENST00000360280.3	Missense_Mutation	SNP	9 : 79908284 - 79908284 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	400	86
QSOX1	5768	broad.mit.edu	37	1	180155237	180155237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180155237C>T	ENST00000367600.5	+	8	948	c.937C>T	c.(937-939)Cgg>Tgg	p.R313W	QSOX1_ENST00000367602.3_Missense_Mutation_p.R313W	NM_001004128.2|NM_002826.4	NP_001004128.1|NP_002817.2	O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	313					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity	p.R313W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTACATCCTGCGGATAGAAGT	0.557		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)											102	97	98			NA	NA	1		NA											NA				180155237		2203	4300	6503	SO:0001583	missense			U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260	5768	5768			9756	protein-coding gene	gene with protein product		603120	quiescin Q6	QSCN6	NA	9878249, 8396966	Standard	NM_002826	NM_002826	NA	Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367600.5:c.937C>T	1.37:g.180155237C>T	ENSP00000356572:p.Arg313Trp	NA	Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	37	CCDS30950.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449011	0.84101	.	.	ENSG00000116260	ENST00000367602;ENST00000367600	T;T	0.17528	3.46;2.27	5.39	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.46229	0.1382	M	0.87900	2.915	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.924;1.0	T	0.51803	-0.8659	10	0.59425	D	0.04	-23.017	13.817	0.63299	0.1539:0.8461:0.0:0.0	.	313;313;313	A8K477;O00391;O00391-2	.;QSOX1_HUMAN;.	W	313	ENSP00000356574:R313W;ENSP00000356572:R313W	ENSP00000356572:R313W	R	+	1	2	QSOX1	178421860	1.000000	0.71417	0.992000	0.48379	0.930000	0.56654	1.971000	0.40530	2.518000	0.84900	0.561000	0.74099	CGG	QSOX1-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000100310.1		+	ENST00000367600.5	Missense_Mutation	SNP	1 : 180155237 - 180155237 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	422	37
TPH1	7166	broad.mit.edu	37	11	18042657	18042657	+	Missense_Mutation	SNP	G	G	A	rs151168710	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18042657G>A	ENST00000250018.2	-	10	1778	c.1216C>T	c.(1216-1218)Cgg>Tgg	p.R406W	RP1-59M18.2_ENST00000525523.1_RNA|TPH1_ENST00000525406.1_5'UTR|TPH1_ENST00000341556.2_Missense_Mutation_p.R406W	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	406					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TGAATACTCCGTGTATATGGA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG	1,4399	2.1+/-5.4	0,1,2199	228	223	225		1216	5.5	1	11	dbSNP_134	225	1,8585	1.2+/-3.3	0,1,4292	yes	missense	TPH1	NM_004179.2	101	0,2,6491	AA,AG,GG	NA	0.0116,0.0227,0.0154	probably-damaging	406/445	18042657	2,12984	2200	4293	6493	SO:0001583	missense			X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	7166	7166	1.14.16.4		12008	protein-coding gene	gene with protein product	tryptophan 5-monooxygenase	191060	tryptophan hydroxylase (tryptophan 5-monooxygenase)	TPRH, TPH	NA	1463016	Standard	NM_004179	NM_004179	NA	Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.1216C>T	11.37:g.18042657G>A	ENSP00000250018:p.Arg406Trp	NA	D3DQX6|O95188|O95189|Q16736|Q3KPG8	37	CCDS7829.1	.	.	.	.	.	.	.	.	.	.	G	35	5.527324	0.96431	2.27E-4	1.16E-4	ENSG00000129167	ENST00000250018;ENST00000341556	D;D	0.99571	-6.19;-6.19	5.53	5.53	0.82687	Aromatic amino acid hydroxylase, C-terminal (4);	0.355631	0.33161	N	0.005214	D	0.99001	0.9659	L	0.29908	0.895	0.46317	D	0.998982	P	0.41643	0.758	P	0.50791	0.65	D	0.99898	1.1153	10	0.87932	D	0	-2.2416	19.8304	0.96632	0.0:0.0:1.0:0.0	.	406	P17752	TPH1_HUMAN	W	406	ENSP00000250018:R406W;ENSP00000343550:R406W	ENSP00000250018:R406W	R	-	1	2	TPH1	17999233	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.813000	0.99286	2.775000	0.95449	0.585000	0.79938	CGG	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389696.1		-	ENST00000250018.2	Missense_Mutation	SNP	11 : 18042657 - 18042657 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	766	131
MYOM1	8736	broad.mit.edu	37	18	3154969	3154969	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3154969G>T	ENST00000356443.4	-	11	1952	c.1619C>A	c.(1618-1620)cCt>cAt	p.P540H	MYOM1_ENST00000261606.7_Missense_Mutation_p.P540H|MYOM1_ENST00000400569.3_Missense_Mutation_p.P540H	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	540	Fibronectin type-III 1.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCCGAGAATAGGACTCCCTCC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	65	65			NA	NA	18		NA											NA				3154969		1902	4122	6024	SO:0001583	missense			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605	8736	8736		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	7613	protein-coding gene	gene with protein product	skelemin	603508	myomesin 1 (skelemin) (185kD), myomesin 1 (skelemin) 185kDa, myomesin 1, 185kDa		NA	9806852	Standard	NM_003803	NM_019856	NA	Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.1619C>A	18.37:g.3154969G>T	ENSP00000348821:p.Pro540His	NA	Q14BD6|Q6H969|Q6ZUU0	37	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903612	0.72754	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.59772	0.24;0.24;0.24	5.01	5.01	0.66863	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.259830	0.40908	D	0.000984	T	0.79782	0.4505	M	0.87827	2.91	0.40009	D	0.975262	D;D	0.76494	0.997;0.999	D;D	0.74674	0.951;0.984	D	0.84151	0.0423	10	0.87932	D	0	.	18.4995	0.90876	0.0:0.0:1.0:0.0	.	540;540	P52179-2;P52179	.;MYOM1_HUMAN	H	540	ENSP00000348821:P540H;ENSP00000383413:P540H;ENSP00000261606:P540H	ENSP00000261606:P540H	P	-	2	0	MYOM1	3144969	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.670000	0.54569	2.592000	0.87571	0.655000	0.94253	CCT	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000441037.2		-	ENST00000356443.4	Missense_Mutation	SNP	18 : 3154969 - 3154969 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	111	21
ZNF549	256051	broad.mit.edu	37	19	58049123	58049123	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58049123G>T	ENST00000376233.3	+	4	932	c.751G>T	c.(751-753)Gaa>Taa	p.E251*	ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Nonsense_Mutation_p.E238*|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000602149.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAAGCGTAGGGAATATGGGAA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	73	72			NA	NA	19		NA											NA				58049123		2203	4300	6503	SO:0001587	stop_gained			AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406	256051	256051		Zinc fingers, C2H2-type, -	26632	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_153263	NM_153263	NA	Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.751G>T	19.37:g.58049123G>T	ENSP00000365407:p.Glu251*	NA	B3KV91|O43336|Q8NAR4	37	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339716	0.81911	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	.	.	.	2.62	-3.36	0.04913	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	4.5826	0.12266	0.2336:0.3431:0.4233:0.0	.	.	.	.	X	238;251	.	ENSP00000240719:E238X	E	+	1	0	ZNF549	62740935	0.000000	0.05858	0.000000	0.03702	0.351000	0.29236	-0.119000	0.10676	-0.785000	0.04522	0.555000	0.69702	GAA	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466780.1		+	ENST00000376233.3	Nonsense_Mutation	SNP	19 : 58049123 - 58049123 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	588	106
PCGF3	10336	broad.mit.edu	37	4	727471	727471	+	Translation_Start_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:727471T>C	ENST00000362003.5	+	4	397	c.2T>C	c.(1-3)aTg>aCg	p.M1T	PCGF3_ENST00000521023.2_5'UTR|PCGF3_ENST00000470161.2_Start_Codon_SNP_p.M1T|PCGF3_ENST00000482726.1_3'UTR|PCGF3_ENST00000400151.2_Start_Codon_SNP_p.M1T|PCGF3_ENST00000505655.2_Start_Codon_SNP_p.M1T	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						AAGCCAAAGATGTTGACCAGG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	89	86			NA	NA	4		NA											NA				727471		2136	4225	6361	SO:0001582	initiator_codon_variant			AK093869	CCDS3339.2	4p16.3	2013-01-09	2005-01-17	2005-01-19	ENSG00000185619	ENSG00000185619	10336	10336		RING-type (C3HC4) zinc fingers, Polycomb group ring fingers	10066	protein-coding gene	gene with protein product			ring finger protein 3	RNF3	NA		Standard	NM_006315	XM_005272250	NA	Approved	FLJ36550, DONG1, RNF3A, MGC40413	uc003gbe.3	Q3KNV8	OTTHUMG00000119000	ENST00000362003.5:c.2T>C	4.37:g.727471T>C	ENSP00000354724:p.Met1Thr	NA	D3DVN1|O15262	37	CCDS3339.2	.	.	.	.	.	.	.	.	.	.	T	15.79	2.938236	0.52972	.	.	ENSG00000185619	ENST00000419774;ENST00000362003;ENST00000427463;ENST00000470161;ENST00000400151;ENST00000433814;ENST00000505655	T;T;T;T;T;T;T	0.51325	0.78;0.94;0.95;0.94;0.71;0.97;0.94	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.57036	0.2026	.	.	.	0.80722	D	1	P	0.40431	0.717	P	0.49047	0.599	T	0.61019	-0.7147	9	0.72032	D	0.01	-49.9347	13.7178	0.62708	0.0:0.0:0.0:1.0	.	1	Q3KNV8	PCGF3_HUMAN	T	1	ENSP00000416279:M1T;ENSP00000354724:M1T;ENSP00000401431:M1T;ENSP00000420489:M1T;ENSP00000383015:M1T;ENSP00000398493:M1T;ENSP00000423393:M1T	ENSP00000354724:M1T	M	+	2	0	PCGF3	717471	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.176000	0.77643	2.186000	0.69663	0.533000	0.62120	ATG	PCGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239197.2	Missense_Mutation	+	ENST00000362003.5	Start_Codon_SNP	SNP	4 : 727471 - 727471 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	568	89
LRP3	4037	broad.mit.edu	37	19	33696342	33696342	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33696342G>A	ENST00000253193.7	+	5	868	c.666G>A	c.(664-666)gcG>gcA	p.A222A		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	222	LDL-receptor class A 2.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GCAGCGGGGCGCGCTCCACGC	0.741		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													8	10	9			NA	NA	19		NA											NA				33696342		2148	4211	6359	SO:0001819	synonymous_variant			AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881	4037	4037		Low density lipoprotein receptors	6695	protein-coding gene	gene with protein product		603159			NA	9693042, 7959795	Standard		NM_002333	NA	Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.666G>A	19.37:g.33696342G>A		NA	B3KQD6|B4DKF2	37	CCDS12430.1																																																																																			LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450842.4		+	ENST00000253193.7	Silent	SNP	19 : 33696342 - 33696342 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	95	17
TAPBPL	55080	broad.mit.edu	37	12	6567973	6567973	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6567973G>T	ENST00000266556.7	+	5	1232	c.1067G>T	c.(1066-1068)aGg>aTg	p.R356M	TAPBPL_ENST00000545700.1_3'UTR	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	356	Ig-like C1-type.				antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane				endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						TCCAGCCTCAGGCAAAGCGTG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	86	90			NA	NA	12		NA											NA				6567973		2203	4300	6503	SO:0001583	missense			AK001005	CCDS8546.1	12p13.31	2013-01-11					55080	55080		Immunoglobulin superfamily / C1-set domain containing	30683	protein-coding gene	gene with protein product		607081			NA	11920573	Standard	NM_018009	NM_018009	NA	Approved	TAPBP-R, FLJ10143, TAPBPR	uc001qog.4	Q9BX59		ENST00000266556.7:c.1067G>T	12.37:g.6567973G>T	ENSP00000266556:p.Arg356Met	NA	Q9NWB8	37	CCDS8546.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309243	0.81247	.	.	ENSG00000139192	ENST00000266556	T	0.02916	4.11	5.22	5.22	0.72569	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.11452	0.0279	L	0.55990	1.75	0.47994	D	0.999564	D	0.71674	0.998	D	0.70935	0.971	T	0.00192	-1.1935	10	0.87932	D	0	-24.2099	14.6634	0.68891	0.0:0.0:1.0:0.0	.	356	Q9BX59	TPSNR_HUMAN	M	356	ENSP00000266556:R356M	ENSP00000266556:R356M	R	+	2	0	TAPBPL	6438234	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	6.395000	0.73228	2.603000	0.88011	0.650000	0.86243	AGG	TAPBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399263.1		+	ENST00000266556.7	Missense_Mutation	SNP	12 : 6567973 - 6567973 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	348	66
INTS7	25896	broad.mit.edu	37	1	212148514	212148514	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212148514G>T	ENST00000366994.3	-	13	1913	c.1809C>A	c.(1807-1809)tcC>tcA	p.S603S	INTS7_ENST00000366993.3_Silent_p.S603S|INTS7_ENST00000366992.3_Silent_p.S603S|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_Silent_p.S554S	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	603					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TTACTGTTAAGGAAGCAATCC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	61	62			NA	NA	1		NA											NA				212148514		2203	4300	6503	SO:0001819	synonymous_variant			AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493	25896	25896			24484	protein-coding gene	gene with protein product		611350	chromosome 1 open reading frame 73	C1orf73	NA	16239144	Standard	NM_015434	NM_015434	NA	Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.1809C>A	1.37:g.212148514G>T		NA	B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	37	CCDS1501.1																																																																																			INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090142.1		-	ENST00000366994.3	Silent	SNP	1 : 212148514 - 212148514 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	252	62
LRBA	987	broad.mit.edu	37	4	151186882	151186882	+	Missense_Mutation	SNP	G	G	A	rs145709687	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151186882G>A	ENST00000510413.1	-	57	8832	c.8548C>T	c.(8548-8550)Cgc>Tgc	p.R2850C	LRBA_ENST00000535741.1_Missense_Mutation_p.R2851C|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000357115.3_Missense_Mutation_p.R2862C	NM_001199282.2	NP_001186211.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2862						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CATCAGTAGCGGGTTTGGTAT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/ARG,CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	127	118	121		8584,8584	5	1	4	dbSNP_134	121	13,8587	9.8+/-36.6	0,13,4287	yes	missense,missense	LRBA	NM_001199282.2,NM_006726.4	180,180	0,16,6487	AA,AG,GG	NA	0.1512,0.0681,0.123	probably-damaging,probably-damaging	2862/2864,2862/2864	151186882	16,12990	2203	4300	6503	SO:0001583	missense			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589	987	987		WD repeat domain containing	1742	protein-coding gene	gene with protein product		606453		CDC4L	NA	1505956, 11254716	Standard		NM_006726	NA	Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000510413.1:c.8548C>T	4.37:g.151186882G>A	ENSP00000421552:p.Arg2850Cys	NA	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	37	CCDS58928.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101756	0.76983	6.81E-4	0.001512	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115	T;T;T	0.59224	0.28;0.43;0.28	5.88	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.74741	0.3756	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.999;0.977;0.973	T	0.77115	-0.2707	10	0.87932	D	0	.	12.301	0.54874	0.0:0.0:0.6759:0.3241	.	2862;2851;2850;757	P50851;F5H1X8;P50851-2;Q68D03	LRBA_HUMAN;.;.;.	C	2851;2850;2862	ENSP00000446299:R2851C;ENSP00000421552:R2850C;ENSP00000349629:R2862C	ENSP00000349629:R2862C	R	-	1	0	LRBA	151406332	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.405000	0.44548	2.782000	0.95742	0.655000	0.94253	CGC	LRBA-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364938.1		-	ENST00000510413.1	Missense_Mutation	SNP	4 : 151186882 - 151186882 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	252	23
PMEPA1	56937	broad.mit.edu	37	20	56227286	56227286	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:56227286C>A	ENST00000341744.3	-	4	1006	c.687G>T	c.(685-687)ccG>ccT	p.P229P	PMEPA1_ENST00000347215.4_Silent_p.P194P|PMEPA1_ENST00000395814.1_Silent_p.P179P|PMEPA1_ENST00000265626.4_Silent_p.P179P|PMEPA1_ENST00000395816.3_Silent_p.P179P	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	229					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						TGTAGGTGGGCGGCGGCCCCT	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	16	15			NA	NA	20		NA											NA				56227286		2193	4289	6482	SO:0001819	synonymous_variant			AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225	56937	56937			14107	protein-coding gene	gene with protein product	solid tumor-associated 1	606564	transmembrane, prostate androgen induced RNA	TMEPAI	NA	10873380	Standard	NM_020182	NM_020182	NA	Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.687G>T	20.37:g.56227286C>A		NA	Q5TDR6|Q96B72|Q9UJD3	37	CCDS13463.1																																																																																			PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079858.2		-	ENST00000341744.3	Silent	SNP	20 : 56227286 - 56227286 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	155	31
MYH9	4627	broad.mit.edu	37	22	36705431	36705431	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36705431T>G	ENST00000216181.5	-	15	1969	c.1739A>C	c.(1738-1740)aAa>aCa	p.K580T		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	580	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTCGTCAGCTTTGTAATCCAC	0.567		NA	T	ALK	ALCL		Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome		Hereditary Macrothrombocytopenia, MYH9-associated					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		22	22q13.1	4627	myosin, heavy polypeptide 9, non-muscle	yes	L	0													156	123	134			NA	NA	22		NA											NA				36705431		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345	4627	4627		Myosins / Myosin superfamily : Class II	7579	protein-coding gene	gene with protein product	nonmuscle myosin heavy chain II-A	160775	myosin, heavy polypeptide 9, non-muscle	DFNA17	NA	1860190, 11023810	Standard	NM_002473	NM_002473	NA	Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1739A>C	22.37:g.36705431T>G	ENSP00000216181:p.Lys580Thr	NA	O60805|Q86T83	37	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.967794	0.74131	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	T	0.71341	-0.56	4.73	4.73	0.59995	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	T	0.60971	0.2310	N	0.17278	0.47	0.80722	D	1	B	0.29115	0.233	B	0.37267	0.245	T	0.65344	-0.6191	10	0.87932	D	0	.	14.1891	0.65625	0.0:0.0:0.0:1.0	.	580	P35579	MYH9_HUMAN	T	444;580	ENSP00000216181:K580T	ENSP00000216181:K580T	K	-	2	0	MYH9	35035377	1.000000	0.71417	0.984000	0.44739	0.765000	0.43378	8.023000	0.88764	1.904000	0.55121	0.460000	0.39030	AAA	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000259110.3		-	ENST00000216181.5	Missense_Mutation	SNP	22 : 36705431 - 36705431 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	278	23
MYBL2	4605	broad.mit.edu	37	20	42340139	42340139	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42340139G>A	ENST00000217026.4	+	11	1744	c.1617G>A	c.(1615-1617)ccG>ccA	p.P539P	MYBL2_ENST00000396863.4_Silent_p.P515P	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	539						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CACAGACCCCGCACCTGGAGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	45	48			NA	NA	20		NA											NA				42340139		2203	4300	6503	SO:0001819	synonymous_variant				CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057	4605	4605			7548	protein-coding gene	gene with protein product		601415			NA	8812502	Standard	NM_002466	NM_002466	NA	Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.1617G>A	20.37:g.42340139G>A		NA	B2RBS5	37	CCDS13322.1																																																																																			MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080408.1		+	ENST00000217026.4	Silent	SNP	20 : 42340139 - 42340139 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	109	18
GEMIN8	54960	broad.mit.edu	37	X	14038477	14038477	+	Missense_Mutation	SNP	G	G	T	rs137990246		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:14038477G>T	ENST00000380523.4	-	4	510	c.192C>A	c.(190-192)agC>agA	p.S64R	GEMIN8_ENST00000398355.3_Missense_Mutation_p.S64R|GEMIN8_ENST00000460203.1_5'UTR	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	64					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						TATCGTAAGAGCTTTGGGGAA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	114	120			NA	NA	X		NA											NA				14038477		2203	4300	6503	SO:0001583	missense			BC020785	CCDS14159.1	Xp22	2010-03-16	2006-11-24	2006-11-24	ENSG00000046647	ENSG00000046647	54960	54960			26044	protein-coding gene	gene with protein product			family with sequence similarity 51, member A1	FAM51A1	NA	16434402	Standard	NM_017856	NM_017856	NA	Approved	FLJ20514	uc004cwd.3	Q9NWZ8	OTTHUMG00000021160	ENST00000380523.4:c.192C>A	X.37:g.14038477G>T	ENSP00000369895:p.Ser64Arg	NA	C4AMC4|Q2LJ66|Q6ZV27	37	CCDS14159.1	.	.	.	.	.	.	.	.	.	.	g	8.948	0.967554	0.18659	.	.	ENSG00000046647	ENST00000380523;ENST00000398355;ENST00000332885	T;T;T	0.46819	0.86;0.86;0.86	5.15	3.35	0.38373	.	0.471114	0.25978	N	0.027094	T	0.31167	0.0788	L	0.38175	1.15	0.09310	N	1	B	0.20261	0.043	B	0.17433	0.018	T	0.13229	-1.0517	10	0.33940	T	0.23	.	3.0956	0.06308	0.1643:0.1332:0.5638:0.1387	.	64	Q9NWZ8	GEMI8_HUMAN	R	64	ENSP00000369895:S64R;ENSP00000381398:S64R;ENSP00000369894:S64R	ENSP00000369894:S64R	S	-	3	2	GEMIN8	13948398	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-0.217000	0.09253	0.975000	0.38392	-0.306000	0.09157	AGC	GEMIN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055815.1		-	ENST00000380523.4	Missense_Mutation	SNP	X : 14038477 - 14038477 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	509	145
OBSCN	84033	broad.mit.edu	37	1	228547313	228547313	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228547313C>T	ENST00000570156.2	+	91	21606				OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000284548.11_Silent_p.T6240T|OBSCN_ENST00000366709.4_Silent_p.T3359T|OBSCN_ENST00000422127.1_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	NA					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGACCATCACCACTGTGGTGA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	21	19			NA	NA	1		NA											NA				228547313		2142	4246	6388	SO:0001627	intron_variant			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358	84033	84033		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	15719	protein-coding gene	gene with protein product		608616			NA	11448995, 11814696	Standard	NM_052843	NM_001098623	NA	Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000570156.2:c.21533-2964C>T	1.37:g.228547313C>T		NA	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	37	CCDS59204.1																																																																																			OBSCN-011	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421354.3		+	ENST00000570156.2	Intron	SNP	1 : 228547313 - 228547313 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	54	10
ABCF1	23	broad.mit.edu	37	6	30553100	30553100	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30553100C>T	ENST00000326195.8	+	15	1567	c.1455C>T	c.(1453-1455)aaC>aaT	p.N485N	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Silent_p.N447N	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	485	ABC transporter 1.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TGGACCTCAACGCTGTCATCT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													216	159	179			NA	NA	6		NA											NA				30553100		1511	2709	4220	SO:0001819	synonymous_variant			AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574	23	23		ATP binding cassette transporters / subfamily F	70	protein-coding gene	gene with protein product		603429		ABC50	NA	9790762	Standard		NM_001025091	NA	Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.1455C>T	6.37:g.30553100C>T		NA	O14897|Q69YP6	37	CCDS34380.1																																																																																			ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076137.3		+	ENST00000326195.8	Silent	SNP	6 : 30553100 - 30553100 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	433	93
WDR49	151790	broad.mit.edu	37	3	167293928	167293928	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167293928G>T	ENST00000479765.1	-	8	1510	c.1287C>A	c.(1285-1287)ctC>ctA	p.L429L	WDR49_ENST00000308378.3_Silent_p.L88L|WDR49_ENST00000453925.2_Silent_p.L141L			Q8IV35	WDR49_HUMAN	WD repeat domain 49	88										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GAATATCCCAGAGTCTCAAAA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	58	59			NA	NA	3		NA											NA				167293928		2203	4300	6503	SO:0001819	synonymous_variant			AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776	151790	151790		WD repeat domain containing	26587	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_178824	NM_178824	NA	Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000479765.1:c.1287C>A	3.37:g.167293928G>T		NA	Q8N297	37		.	.	.	.	.	.	.	.	.	.	G	6.982	0.551242	0.13374	.	.	ENSG00000174776	ENST00000472600	.	.	.	5.76	4.89	0.63831	.	.	.	.	.	T	0.64316	0.2587	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63120	-0.6708	4	.	.	.	.	12.858	0.57897	0.0757:0.0:0.9243:0.0	.	.	.	.	Y	153	.	.	S	-	2	0	WDR49	168776622	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	1.848000	0.39309	1.472000	0.48140	0.650000	0.86243	TCT	WDR49-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000350593.2		-	ENST00000479765.1	Silent	SNP	3 : 167293928 - 167293928 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	211	41
MCM3AP	8888	broad.mit.edu	37	21	47697518	47697518	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47697518G>A	ENST00000397708.1	-	6	2035	c.1781C>T	c.(1780-1782)aCc>aTc	p.T594I	MCM3AP_ENST00000291688.1_Missense_Mutation_p.T594I			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	594					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GCCTATCAGGGTACTGAGGGA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	131	139			NA	NA	21		NA											NA				47697518		2203	4300	6503	SO:0001583	missense			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294	8888	8888			6946	protein-coding gene	gene with protein product	germinal-centre associated nuclear protein	603294	minichromosome maintenance deficient (S. cerevisiae) 3-associated protein, MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein		NA	9712829, 16914116, 21195085	Standard	NM_003906	XM_005261205	NA	Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.1781C>T	21.37:g.47697518G>A	ENSP00000380820:p.Thr594Ile	NA	Q2M3C1|Q9UMT4	37	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	8.435	0.849474	0.17034	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.03553	3.89;3.89	5.74	4.81	0.61882	.	1.098820	0.06689	N	0.769359	T	0.05181	0.0138	L	0.44542	1.39	0.21527	N	0.99966	B	0.12630	0.006	B	0.17098	0.017	T	0.33240	-0.9876	10	0.28530	T	0.3	-0.202	8.6736	0.34165	0.0:0.1341:0.6186:0.2473	.	594	O60318	MCM3A_HUMAN	I	594	ENSP00000380820:T594I;ENSP00000291688:T594I	ENSP00000291688:T594I	T	-	2	0	MCM3AP	46521946	0.922000	0.31269	0.073000	0.20177	0.298000	0.27526	1.328000	0.33758	2.715000	0.92844	0.655000	0.94253	ACC	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207254.1		-	ENST00000397708.1	Missense_Mutation	SNP	21 : 47697518 - 47697518 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	594	54
RAB6B	51560	broad.mit.edu	37	3	133547691	133547691	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133547691C>T	ENST00000285208.4	-	8	917	c.568G>A	c.(568-570)Gac>Aac	p.D190N	RAB6B_ENST00000543906.1_Missense_Mutation_p.D190N|RAB6B_ENST00000486858.1_Missense_Mutation_p.D177N|RAB6B_ENST00000469959.1_Intron	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	190					protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|Golgi membrane	GTP binding|GTPase activity|protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						AGCTTGATGTCGATCACTGCA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	124	120			NA	NA	3		NA											NA				133547691		2203	4300	6503	SO:0001583	missense			AF166492	CCDS3082.1	3q22.1	2008-05-15			ENSG00000154917	ENSG00000154917	51560	51560		RAB, member RAS oncogene	14902	protein-coding gene	gene with protein product		615852			NA		Standard		NM_016577	NA	Approved		uc003epy.3	Q9NRW1	OTTHUMG00000159749	ENST00000285208.4:c.568G>A	3.37:g.133547691C>T	ENSP00000285208:p.Asp190Asn	NA	B2R5Z9|D3DND3|Q92929	37	CCDS3082.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945765	0.73672	.	.	ENSG00000154917	ENST00000285208;ENST00000543906;ENST00000486858	T;T;T	0.61627	0.09;0.09;0.28	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.49287	0.1548	L	0.29908	0.895	0.80722	D	1	B;B	0.22541	0.03;0.071	B;B	0.17098	0.014;0.017	T	0.33548	-0.9864	10	0.36615	T	0.2	-26.509	19.1662	0.93559	0.0:1.0:0.0:0.0	.	177;190	B7Z337;Q9NRW1	.;RAB6B_HUMAN	N	190;190;177	ENSP00000285208:D190N;ENSP00000437797:D190N;ENSP00000419381:D177N	ENSP00000285208:D190N	D	-	1	0	RAB6B	135030381	1.000000	0.71417	0.996000	0.52242	0.888000	0.51559	4.380000	0.59581	2.831000	0.97527	0.561000	0.74099	GAC	RAB6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357152.1		-	ENST00000285208.4	Missense_Mutation	SNP	3 : 133547691 - 133547691 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1227	222
NADSYN1	55191	broad.mit.edu	37	11	71184618	71184618	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71184618G>A	ENST00000319023.2	+	8	740	c.552G>A	c.(550-552)ccG>ccA	p.P184P		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	184	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCTGCAGCCCGCACATCGACA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(79;763 1781 6490 50276)							NA				0													41	37	39			NA	NA	11		NA											NA				71184618		2200	4294	6494	SO:0001819	synonymous_variant			AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890	55191	55191			29832	protein-coding gene	gene with protein product		608285			NA	12547821	Standard	NM_018161	NM_018161	NA	Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.552G>A	11.37:g.71184618G>A		NA	Q86SN2|Q9HA25|Q9NVM8	37	CCDS8201.1																																																																																			NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394356.1		+	ENST00000319023.2	Silent	SNP	11 : 71184618 - 71184618 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	261	56
MRPL23	6150	broad.mit.edu	37	11	1974067	1974067	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1974067G>T	ENST00000397297.3	+	4	310	c.279G>T	c.(277-279)aaG>aaT	p.K93N	MRPL23_ENST00000381519.1_Missense_Mutation_p.K93N|MRPL23_ENST00000397298.3_Missense_Mutation_p.K93N|MRPL23_ENST00000397294.3_Missense_Mutation_p.K93N|MRPL23_ENST00000381514.3_Missense_Mutation_p.K93N			Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	93					translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CGGACTACAAGGTCGCCTACG	0.542		NA									OREG0020673	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ASN/LYS	1,4403	2.1+/-5.4	0,1,2201	29	27	27		279	2.2	1	11		27	0,8598		0,0,4299	no	missense	MRPL23	NM_021134.3	94	0,1,6500	TT,TG,GG	NA	0.0,0.0227,0.0077	probably-damaging	93/154	1974067	1,13001	2202	4299	6501	SO:0001583	missense			AB051340	CCDS31336.1	11p15.5	2012-09-13			ENSG00000214026	ENSG00000214026	6150	6150		Mitochondrial ribosomal proteins / large subunits	10322	protein-coding gene	gene with protein product		600789		RPL23L	NA	8541832	Standard	NM_021134	NM_021134	NA	Approved	L23MRP	uc001lux.3	Q16540	OTTHUMG00000012476	ENST00000397297.3:c.279G>T	11.37:g.1974067G>T	ENSP00000380465:p.Lys93Asn	600	A8MT29|Q96Q71	37		.	.	.	.	.	.	.	.	.	.	G	15.94	2.980164	0.53827	2.27E-4	0.0	ENSG00000214026	ENST00000397298;ENST00000381519;ENST00000397297;ENST00000381514;ENST00000397294	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	3.18	2.24	0.28232	Ribosomal protein L23/L15e (1);Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	U	0.000000	D	0.84047	0.5386	H	0.95151	3.63	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.83812	0.0242	10	0.87932	D	0	.	7.6413	0.28294	0.2208:0.0:0.7792:0.0	.	93	Q16540	RM23_HUMAN	N	93	ENSP00000380466:K93N;ENSP00000370930:K93N;ENSP00000380465:K93N;ENSP00000370925:K93N;ENSP00000380462:K93N	ENSP00000370925:K93N	K	+	3	2	MRPL23	1930643	1.000000	0.71417	0.992000	0.48379	0.828000	0.46876	1.738000	0.38207	0.654000	0.30846	0.313000	0.20887	AAG	MRPL23-009	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000314380.1		+	ENST00000397297.3	Missense_Mutation	SNP	11 : 1974067 - 1974067 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	169	9
PRKD3	23683	broad.mit.edu	37	2	37509738	37509738	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37509738C>T	ENST00000379066.1	-	7	1697	c.935G>A	c.(934-936)cGc>cAc	p.R312H	PRKD3_ENST00000234179.2_Missense_Mutation_p.R312H			O94806	KPCD3_HUMAN	protein kinase D3	312					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TGATGCACAGCGTTTATGGCA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(80;621 1355 8613 11814 51767)							NA				0													114	114	114			NA	NA	2		NA											NA				37509738		2203	4300	6503	SO:0001583	missense			AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825	23683	23683		Pleckstrin homology (PH) domain containing	9408	protein-coding gene	gene with protein product		607077	protein kinase C, nu	PRKCN	NA	10231560	Standard	NM_005813	NM_005813	NA	Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.935G>A	2.37:g.37509738C>T	ENSP00000368356:p.Arg312His	NA	D6W587|Q53TR7|Q8NEL8	37	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	C	35	5.579135	0.96565	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	D;D	0.93604	-3.25;-3.25	5.51	5.51	0.81932	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.000000	0.85682	D	0.000000	D	0.96291	0.8790	M	0.64080	1.96	0.80722	D	1	D;D	0.89917	0.993;1.0	P;D	0.83275	0.847;0.996	D	0.96357	0.9263	10	0.87932	D	0	-14.1888	19.7654	0.96337	0.0:1.0:0.0:0.0	.	312;312	O94806-2;O94806	.;KPCD3_HUMAN	H	312	ENSP00000368356:R312H;ENSP00000234179:R312H	ENSP00000234179:R312H	R	-	2	0	PRKD3	37363242	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.776000	0.85560	2.750000	0.94351	0.655000	0.94253	CGC	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000218570.3		-	ENST00000379066.1	Missense_Mutation	SNP	2 : 37509738 - 37509738 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	508	125
PRKCI	5584	broad.mit.edu	37	3	169988246	169988246	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169988246G>A	ENST00000295797.4	+	6	793	c.488G>A	c.(487-489)gGa>gAa	p.G163E		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	163	Regulatory domain.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CGAATATGGGGACTTGGACGC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	112	116			NA	NA	3		NA											NA				169988246		2203	4300	6503	SO:0001583	missense				CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	5584	5584	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E	NA	7607695, 11978974	Standard	NM_002740	NM_002740	NA	Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.488G>A	3.37:g.169988246G>A	ENSP00000295797:p.Gly163Glu	NA	D3DNQ4|Q8WW06	37	CCDS3212.2	.	.	.	.	.	.	.	.	.	.	G	33	5.208961	0.95069	.	.	ENSG00000163558	ENST00000295797	D	0.93659	-3.26	5.41	5.41	0.78517	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.000000	0.85682	D	0.000000	D	0.98438	0.9480	H	0.99143	4.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99509	1.0955	9	.	.	.	.	19.5412	0.95275	0.0:0.0:1.0:0.0	.	163	P41743	KPCI_HUMAN	E	163	ENSP00000295797:G163E	.	G	+	2	0	PRKCI	171470940	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	9.847000	0.99503	2.695000	0.91970	0.591000	0.81541	GGA	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316866.3		+	ENST00000295797.4	Missense_Mutation	SNP	3 : 169988246 - 169988246 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	515	85
FZD8	8325	broad.mit.edu	37	10	35929686	35929686	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35929686G>A	ENST00000374694.1	-	1	676	c.672C>T	c.(670-672)ggC>ggT	p.G224G		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	224					axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						AGGGAGCCGCGCCGCCGCCAG	0.806		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													5	6	5			NA	NA	10		NA											NA				35929686		1617	3437	5054	SO:0001819	synonymous_variant			AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283	8325	8325		GPCR / Class F : Frizzled receptors	4046	protein-coding gene	gene with protein product		606146	frizzled (Drosophila) homolog 8, frizzled homolog 8 (Drosophila), frizzled 8, seven transmembrane spanning receptor, frizzled family receptor 8		NA	11295046	Standard	NM_031866	NM_031866	NA	Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.672C>T	10.37:g.35929686G>A		NA		37	CCDS7192.1																																																																																			FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047575.2		-	ENST00000374694.1	Silent	SNP	10 : 35929686 - 35929686 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	107	12
GABRB2	2561	broad.mit.edu	37	5	160757956	160757956	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:160757956G>A	ENST00000393959.1	-	8	1010	c.1011C>T	c.(1009-1011)cgC>cgT	p.R337R	GABRB2_ENST00000517901.1_Silent_p.R274R|GABRB2_ENST00000353437.6_Silent_p.R337R|GABRB2_ENST00000274547.2_Silent_p.R337R|GABRB2_ENST00000517547.1_Silent_p.R177R|GABRB2_ENST00000520240.1_Silent_p.R337R			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	337					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CTTTCTTTTGGCGTTGGGGCC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	98	97			NA	NA	5		NA											NA				160757956		2203	4300	6503	SO:0001819	synonymous_variant				CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864	NA	2561		GABA receptors, Ligand-gated ion channels / GABA(A) receptors	4082	protein-coding gene	gene with protein product	GABA(A) receptor, beta 2	600232			NA	7851879	Standard		NM_000813	NA	Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.1011C>T	5.37:g.160757956G>A		NA	A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	37	CCDS4355.1																																																																																			GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252704.1		-	ENST00000393959.1	Silent	SNP	5 : 160757956 - 160757956 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	704	127
MED12L	116931	broad.mit.edu	37	3	151100468	151100468	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151100468C>T	ENST00000474524.1	+	31	4548	c.4510C>T	c.(4510-4512)Cga>Tga	p.R1504*	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Nonsense_Mutation_p.R1364*	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1504					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAGAGAAGAACGATACCAAGA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	60	60			NA	NA	3		NA											NA				151100468		2203	4300	6503	SO:0001587	stop_gained			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893	116931	116931			16050	protein-coding gene	gene with protein product		611318	mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like		NA	11524702	Standard	NM_053002	XM_006713487	NA	Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.4510C>T	3.37:g.151100468C>T	ENSP00000417235:p.Arg1504*	NA	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	37	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	45	11.838506	0.99609	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	.	.	.	5.9	4.05	0.47172	.	0.063424	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.7263	13.6449	0.62275	0.4138:0.5862:0.0:0.0	.	.	.	.	X	1504;1364	.	ENSP00000273432:R1364X	R	+	1	2	MED12L	152583158	1.000000	0.71417	0.692000	0.30179	0.958000	0.62258	4.564000	0.60830	0.761000	0.33130	0.650000	0.86243	CGA	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357707.2		+	ENST00000474524.1	Nonsense_Mutation	SNP	3 : 151100468 - 151100468 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	219	36
PVRL1	5818	broad.mit.edu	37	11	119535612	119535612	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119535612G>A	ENST00000264025.3	-	6	1929	c.1399C>T	c.(1399-1401)Ccc>Tcc	p.P467S	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	467					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GTGAAGTAGGGCCGCTTGGCG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	44	46			NA	NA	11		NA											NA				119535612		2199	4295	6494	SO:0001583	missense			X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400	5818	5818		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	9706	protein-coding gene	gene with protein product	nectin	600644		HVEC, ED4	NA	7721102, 9616127	Standard		NM_203285	NA	Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1399C>T	11.37:g.119535612G>A	ENSP00000264025:p.Pro467Ser	NA	O75465|Q2M3D3|Q9HBE6|Q9HBW2	37	CCDS8426.1	.	.	.	.	.	.	.	.	.	.	-	11.38	1.621452	0.28889	.	.	ENSG00000110400	ENST00000264025	T	0.18657	2.2	3.9	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.20820	0.0501	L	0.43152	1.355	0.80722	D	1	P	0.51057	0.941	B	0.41036	0.346	T	0.09684	-1.0663	10	0.72032	D	0.01	.	15.7712	0.78170	0.0:0.0:1.0:0.0	.	467	Q15223	PVRL1_HUMAN	S	467	ENSP00000264025:P467S	ENSP00000264025:P467S	P	-	1	0	PVRL1	119040822	1.000000	0.71417	1.000000	0.80357	0.257000	0.26127	7.350000	0.79385	2.108000	0.64289	0.479000	0.44913	CCC	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388231.1		-	ENST00000264025.3	Missense_Mutation	SNP	11 : 119535612 - 119535612 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	214	10
ZNF229	7772	broad.mit.edu	37	19	44934204	44934204	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44934204T>G	ENST00000291187.4	-	6	1056	c.734A>C	c.(733-735)aAa>aCa	p.K245T	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Missense_Mutation_p.K251T	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TACAGAGTTTTTAATGCAGTC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	111	114			NA	NA	19		NA											NA				44934204		1888	4109	5997	SO:0001583	missense			AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318	7772	7772		Zinc fingers, C2H2-type, -	13022	protein-coding gene	gene with protein product					NA		Standard	NM_014518	XM_006723372	NA	Approved		uc002oze.1	Q9UJW7		ENST00000291187.4:c.734A>C	19.37:g.44934204T>G	ENSP00000291187:p.Lys245Thr	NA	B2RWN3|Q59FV2|Q86WL9	37		.	.	.	.	.	.	.	.	.	.	T	8.302	0.820100	0.16678	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.92	1.24	0.21308	.	.	.	.	.	T	0.16685	0.0401	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.24048	-1.0171	8	0.27082	T	0.32	.	6.3199	0.21213	0.0:0.1102:0.1737:0.716	.	251	Q9UJW7	ZN229_HUMAN	T	251	.	ENSP00000291187:K251T	K	-	2	0	ZNF229	49626044	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.197000	0.09518	0.386000	0.24997	0.496000	0.49642	AAA	ZNF229-001	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000460831.1		-	ENST00000291187.4	Missense_Mutation	SNP	19 : 44934204 - 44934204 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	551	120
CROT	54677	broad.mit.edu	37	7	87011306	87011306	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87011306G>A	ENST00000419147.2	+	12	1342	c.1143G>A	c.(1141-1143)tgG>tgA	p.W381*	CROT_ENST00000331536.3_Nonsense_Mutation_p.W353*|CROT_ENST00000442291.1_Nonsense_Mutation_p.W353*	NM_001143935.1	NP_001137407.1	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	353					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	AAGGAAGATGGAAGGTATGTT	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	91	92			NA	NA	7		NA											NA				87011306		2203	4297	6500	SO:0001587	stop_gained				CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469	54677	54677			2366	protein-coding gene	gene with protein product		606090			NA	10486279	Standard	NM_021151	NM_021151	NA	Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000419147.2:c.1143G>A	7.37:g.87011306G>A	ENSP00000413575:p.Trp381*	NA	A4D1D6|Q8IUW9|Q9Y6I2	37	CCDS47634.1	.	.	.	.	.	.	.	.	.	.	G	37	6.062868	0.97246	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-6.8503	19.4212	0.94721	0.0:0.0:1.0:0.0	.	.	.	.	X	381;353;353	.	ENSP00000331981:W353X	W	+	3	0	CROT	86849242	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	9.160000	0.94734	2.674000	0.91012	0.467000	0.42956	TGG	CROT-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334713.1		+	ENST00000419147.2	Nonsense_Mutation	SNP	7 : 87011306 - 87011306 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	303	62
C2CD2L	9854	broad.mit.edu	37	11	118983574	118983574	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118983574C>T	ENST00000528586.1	+	6	691	c.621C>T	c.(619-621)gaC>gaT	p.D207D	C2CD2L_ENST00000336702.3_Silent_p.D459D			O14523	C2C2L_HUMAN	C2CD2-like	459						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CCCGTATAGACGGCAAATTAG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4400		0,0,2200	56	47	50		1377	1.3	1	11		50	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	C2CD2L	NM_014807.3		0,1,6494	TT,TC,CC	NA	0.0116,0.0,0.0077		459/708	118983574	1,12989	2200	4295	6495	SO:0001819	synonymous_variant			AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375	9854	9854			29000	protein-coding gene	gene with protein product			transmembrane protein 24	TMEM24	NA	15289880	Standard	NM_014807	XM_005271738	NA	Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.621C>T	11.37:g.118983574C>T		NA	Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	37																																																																																				C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000388199.2		+	ENST00000528586.1	Silent	SNP	11 : 118983574 - 118983574 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	34
ZSWIM5	57643	broad.mit.edu	37	1	45484670	45484670	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45484670C>T	ENST00000359600.5	-	14	3219	c.3014G>A	c.(3013-3015)cGc>cAc	p.R1005H		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	1005							zinc ion binding	p.R1005H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CTCCATGTAGCGGGCGATGGT	0.557		NA									OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)						C	HIS/ARG	1,4237		0,1,2118	75	75	75		3014	4.7	1	1		75	0,8476		0,0,4238	no	missense	ZSWIM5	NM_020883.1	29	0,1,6356	TT,TC,CC	NA	0.0,0.0236,0.0079	probably-damaging	1005/1186	45484670	1,12713	2119	4238	6357	SO:0001583	missense			AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415	57643	57643		Zinc fingers, SWIM-type	29299	protein-coding gene	gene with protein product					NA	10819331	Standard	XM_046581	NM_020883	NA	Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.3014G>A	1.37:g.45484670C>T	ENSP00000352614:p.Arg1005His	932	Q5SXQ9	37	CCDS41319.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396091	0.83011	2.36E-4	0.0	ENSG00000162415	ENST00000359600	T	0.59772	0.24	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.78175	0.4242	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81709	-0.0809	10	0.87932	D	0	-8.2066	18.6023	0.91253	0.0:1.0:0.0:0.0	.	1005	Q9P217	ZSWM5_HUMAN	H	1005	ENSP00000352614:R1005H	ENSP00000352614:R1005H	R	-	2	0	ZSWIM5	45257257	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.558000	0.86282	0.555000	0.69702	CGC	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000024823.2		-	ENST00000359600.5	Missense_Mutation	SNP	1 : 45484670 - 45484670 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	444	103
MRPL15	29088	broad.mit.edu	37	8	55055274	55055274	+	Missense_Mutation	SNP	G	G	A	rs140295154	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55055274G>A	ENST00000260102.4	+	4	555	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	161					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			GTTGGCTTCAGAACTAGCTAT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	103	106			NA	NA	8		NA											NA				55055274		2203	4300	6503	SO:0001583	missense			AB051619	CCDS6158.1	8q11.2-q13	2012-09-13			ENSG00000137547	ENSG00000137547	29088	29088		Mitochondrial ribosomal proteins / large subunits	14054	protein-coding gene	gene with protein product		611828			NA	11543634	Standard	NM_014175	NM_014175	NA	Approved	RPML7, MRP-L7, HSPC145, L15mt, MRP-L15	uc003xsa.2	Q9P015	OTTHUMG00000164315	ENST00000260102.4:c.481G>A	8.37:g.55055274G>A	ENSP00000260102:p.Glu161Lys	NA	Q96Q54|Q9H0Y1	37	CCDS6158.1	.	.	.	.	.	.	.	.	.	.	G	32	5.119001	0.94385	.	.	ENSG00000137547	ENST00000260102;ENST00000519831	.	.	.	5.33	5.33	0.75918	Ribosomal protein L18e/L15P (2);	0.043652	0.85682	D	0.000000	T	0.40546	0.1121	N	0.03029	-0.43	0.80722	D	1	P	0.41159	0.74	P	0.50440	0.641	T	0.45527	-0.9255	9	0.30854	T	0.27	-28.0007	14.957	0.71124	0.0:0.1423:0.8577:0.0	.	161	Q9P015	RM15_HUMAN	K	161	.	ENSP00000260102:E161K	E	+	1	0	MRPL15	55217827	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.742000	0.85008	2.652000	0.90054	0.655000	0.94253	GAA	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378254.1		+	ENST00000260102.4	Missense_Mutation	SNP	8 : 55055274 - 55055274 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	355	66
HTR3B	9177	broad.mit.edu	37	11	113815474	113815474	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113815474A>C	ENST00000260191.2	+	8	1344	c.1087A>C	c.(1087-1089)Aca>Cca	p.T363P	HTR3B_ENST00000537778.1_Missense_Mutation_p.T352P	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	363					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		TGCTGTGGTAACAGGTGTGTG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	122	131			NA	NA	11		NA											NA				113815474		2201	4296	6497	SO:0001583	missense			AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305	9177	9177		5-HT (serotonin) receptors, Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic	5298	protein-coding gene	gene with protein product		604654	5-hydroxytryptamine (serotonin) receptor 3B		NA	9950429, 10521471	Standard	NM_006028	NM_006028	NA	Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.1087A>C	11.37:g.113815474A>C	ENSP00000260191:p.Thr363Pro	NA	B0YJ23|Q0VJC3	37	CCDS8364.1	.	.	.	.	.	.	.	.	.	.	A	6.484	0.457526	0.12342	.	.	ENSG00000149305	ENST00000260191;ENST00000537778	T;T	0.23552	1.9;1.9	5.11	2.78	0.32641	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.660669	0.16067	N	0.231187	T	0.12050	0.0293	N	0.11789	0.175	0.30936	N	0.726339	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.12477	-1.0546	10	0.31617	T	0.26	-2.0701	4.6748	0.12706	0.7057:0.1958:0.0985:0.0	.	352;363	O95264-2;O95264	.;5HT3B_HUMAN	P	363;352	ENSP00000260191:T363P;ENSP00000443118:T352P	ENSP00000260191:T363P	T	+	1	0	HTR3B	113320684	0.009000	0.17119	0.707000	0.30419	0.119000	0.20118	-0.088000	0.11198	0.776000	0.33473	0.533000	0.62120	ACA	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398842.1		+	ENST00000260191.2	Missense_Mutation	SNP	11 : 113815474 - 113815474 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	411	69
GRAMD1A	57655	broad.mit.edu	37	19	35501086	35501086	+	Translation_Start_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35501086G>A	ENST00000599564.1	+	6	748	c.677G>A	c.(676-678)cGc>cAc	p.R226H	GRAMD1A_ENST00000598073.1_3'UTR|GRAMD1A_ENST00000504615.2_De_novo_Start_OutOfFrame|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R132H|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.R139H|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.R139H			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	139						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AACATCTTCCGCTGGGAGACC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	79	78			NA	NA	19		NA											NA				35501086		1926	4131	6057	SO:0001583	missense			AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351	57655	57655			29305	protein-coding gene	gene with protein product			KIAA1533	KIAA1533	NA	10819331	Standard	NM_020895	NM_020895	NA	Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000599564.1:c.677G>A	19.37:g.35501086G>A	ENSP00000470220:p.Arg226His	NA	A6NKY7|Q8NC77|Q9P1Z5	37		.	.	.	.	.	.	.	.	.	.	G	35	5.490486	0.96339	.	.	ENSG00000089351	ENST00000453966;ENST00000317991;ENST00000411896	D;D	0.87412	-2.25;-2.25	5.38	5.38	0.77491	GRAM (2);	0.000000	0.85682	D	0.000000	D	0.93966	0.8068	M	0.84433	2.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.996;0.999;0.992;0.974	D	0.94105	0.7365	10	0.59425	D	0.04	.	16.6817	0.85294	0.0:0.0:1.0:0.0	.	139;139;132;226	Q96CP6-3;Q96CP6;Q96CP6-2;F5GZ02	.;GRM1A_HUMAN;.;.	H	226;139;132	ENSP00000441032:R139H;ENSP00000439267:R132H	ENSP00000441032:R139H	R	+	2	0	GRAMD1A	40192926	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.462000	0.97649	2.793000	0.96121	0.655000	0.94253	CGC	GRAMD1A-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000461555.1		+	ENST00000599564.1	Missense_Mutation	SNP	19 : 35501086 - 35501086 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	822	33
FRYL	285527	broad.mit.edu	37	4	48512134	48512134	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48512134A>T	ENST00000503238.1	-	56	8335	c.8336T>A	c.(8335-8337)gTt>gAt	p.V2779D	FRYL_ENST00000537810.1_Missense_Mutation_p.V2779D|FRYL_ENST00000264319.7_Missense_Mutation_p.V175D|FRYL_ENST00000358350.4_Missense_Mutation_p.V2779D|FRYL_ENST00000507873.2_Missense_Mutation_p.V175D			O94915	FRYL_HUMAN	FRY-like	2779					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CAACTCCAAAACACCAAACTT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	85	86			NA	NA	4		NA											NA				48512134		1870	4123	5993	SO:0001583	missense			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539	285527	285527			29127	protein-coding gene	gene with protein product			KIAA0826, furry homolog-like (Drosophila)	KIAA0826	NA	10048485	Standard		NM_015030	NA	Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.8336T>A	4.37:g.48512134A>T	ENSP00000426064:p.Val2779Asp	NA	O95640|Q8WTZ5|Q9NT40	37	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.058218	0.76074	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	T;T;T	0.32515	1.46;1.46;1.45	5.93	5.93	0.95920	.	0.000000	0.64402	U	0.000007	T	0.60612	0.2282	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	0.992;0.997;1.0	D;D;D	0.91635	0.944;0.975;0.999	T	0.66256	-0.5969	10	0.87932	D	0	.	16.3783	0.83418	1.0:0.0:0.0:0.0	.	2779;2779;175	O94915;F5GX82;O94915-2	FRYL_HUMAN;.;.	D	2779;2779;2779;175;175	ENSP00000426064:V2779D;ENSP00000351113:V2779D;ENSP00000441114:V2779D	ENSP00000264319:V175D	V	-	2	0	FRYL	48206891	1.000000	0.71417	0.957000	0.39632	0.293000	0.27360	7.065000	0.76727	2.261000	0.74972	0.477000	0.44152	GTT	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369265.2		-	ENST00000503238.1	Missense_Mutation	SNP	4 : 48512134 - 48512134 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	279	51
GCM2	9247	broad.mit.edu	37	6	10874603	10874603	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10874603C>A	ENST00000379491.4	-	5	1293	c.1146G>T	c.(1144-1146)gtG>gtT	p.V382V	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	382			V -> M (does not affect expression level, transactivational capacity and DNA binding ability).		cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TGGTGGTGATCACGGTTTGTA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	163	165			NA	NA	6		NA											NA				10874603		2203	4300	6503	SO:0001819	synonymous_variant			AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827	9247	9247			4198	protein-coding gene	gene with protein product		603716	glial cells missing (Drosophila) homolog b	GCMB	NA	9928992	Standard		NM_004752	NA	Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.1146G>T	6.37:g.10874603C>A		NA	Q5THN5	37	CCDS4517.1																																																																																			GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039844.1		-	ENST00000379491.4	Silent	SNP	6 : 10874603 - 10874603 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	884	154
PIK3C2A	5286	broad.mit.edu	37	11	17190264	17190264	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17190264C>T	ENST00000265970.7	-	1	1024	c.1025G>A	c.(1024-1026)cGa>cAa	p.R342Q	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	342					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	CTGAGTTGTTCGAATATTTAA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	98	96			NA	NA	11		NA											NA				17190264		2200	4293	6493	SO:0001583	missense			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	5286	5286	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	phosphoinositide-3-kinase, class 2, alpha polypeptide		NA	9337861	Standard	NM_002645	NM_002645	NA	Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.1025G>A	11.37:g.17190264C>T	ENSP00000265970:p.Arg342Gln	NA	B0LPH2|Q14CQ9	37	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.112024	0.37242	.	.	ENSG00000011405	ENST00000265970;ENST00000544896	T	0.64438	-0.1	5.39	2.39	0.29439	.	0.787528	0.11900	N	0.518665	T	0.47002	0.1422	L	0.32530	0.975	0.80722	D	1	D;P	0.56287	0.975;0.717	B;B	0.41619	0.361;0.13	T	0.29882	-0.9997	10	0.11485	T	0.65	-0.7378	10.8495	0.46761	0.0:0.6901:0.2424:0.0675	.	342;342	F5H5W9;O00443	.;P3C2A_HUMAN	Q	342	ENSP00000265970:R342Q	ENSP00000265970:R342Q	R	-	2	0	PIK3C2A	17146840	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.430000	0.52807	0.633000	0.30452	-0.300000	0.09419	CGA	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387553.1		-	ENST00000265970.7	Missense_Mutation	SNP	11 : 17190264 - 17190264 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	640	52
SCN7A	6332	broad.mit.edu	37	2	167262289	167262289	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167262289G>A	ENST00000409855.1	-	25	4976	c.4850C>T	c.(4849-4851)aCg>aTg	p.T1617M		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1617					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CAAAGTAGTCGTAATTGGCTC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/THR	0,3752		0,0,1876	152	146	148		4850	4	1	2		148	1,8211		0,1,4105	no	missense	SCN7A	NM_002976.3	81	0,1,5981	AA,AG,GG	NA	0.0122,0.0,0.0084	probably-damaging	1617/1683	167262289	1,11963	1876	4106	5982	SO:0001583	missense			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546	6332	6332		Sodium channels, Voltage-gated ion channels / Sodium channels	10594	protein-coding gene	gene with protein product		182392	sodium channel, voltage-gated, type VI, alpha, sodium channel, voltage-gated, type VII, alpha	SCN6A	NA	10198179	Standard		NM_002976	NA	Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4850C>T	2.37:g.167262289G>A	ENSP00000386796:p.Thr1617Met	NA		37	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.284154	0.59867	0.0	1.22E-4	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.97066	-4.23	3.95	3.95	0.45737	.	0.000000	0.56097	D	0.000025	D	0.98118	0.9379	M	0.78049	2.395	0.38018	D	0.934745	D	0.89917	1.0	D	0.85130	0.997	D	0.99880	1.1112	10	0.87932	D	0	.	14.3194	0.66476	0.0:0.0:1.0:0.0	.	1617	Q01118	SCN7A_HUMAN	M	1617	ENSP00000386796:T1617M	ENSP00000259060:T1617M	T	-	2	0	SCN7A	166970535	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	4.518000	0.60510	2.514000	0.84764	0.655000	0.94253	ACG	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333745.1		-	ENST00000409855.1	Missense_Mutation	SNP	2 : 167262289 - 167262289 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	851	35
ECT2	1894	broad.mit.edu	37	3	172523587	172523587	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:172523587G>A	ENST00000417960.1	+	21	2554	c.2077G>A	c.(2077-2079)Gct>Act	p.A693T	ECT2_ENST00000441497.2_Missense_Mutation_p.A694T|ECT2_ENST00000232458.5_Missense_Mutation_p.A694T|ECT2_ENST00000540509.1_Missense_Mutation_p.A725T|ECT2_ENST00000392692.3_Missense_Mutation_p.A725T|ECT2_ENST00000427830.1_Missense_Mutation_p.A694T	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	694	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			CCGACCCCCAGCTTCTCTTAA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	65	65			NA	NA	3		NA											NA				172523587		2203	4300	6503	SO:0001583	missense			AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346	1894	1894		Rho guanine nucleotide exchange factors	3155	protein-coding gene	gene with protein product		600586	epithelial cell transforming sequence 2 oncogene		NA	8464478, 10579713	Standard	NM_018098	NM_018098	NA	Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000417960.1:c.2077G>A	3.37:g.172523587G>A	ENSP00000415876:p.Ala693Thr	NA	Q2M269|Q9NSV8|Q9NVW9	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.77|18.77	3.695041|3.695041	0.68386|0.68386	.|.	.|.	ENSG00000114346|ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509|ENST00000437296	T;T;T;T;T;T|.	0.30182|.	1.54;1.54;1.54;1.54;1.54;1.54|.	6.06|6.06	4.28|4.28	0.50868|0.50868	Pleckstrin homology-type (1);Pleckstrin homology domain (1);|.	0.145083|.	0.64402|.	D|.	0.000008|.	T|T	0.59649|0.59649	0.2209|0.2209	L|L	0.47716|0.47716	1.5|1.5	0.58432|0.58432	D|D	0.999992|0.999992	B;B;P;B;B|.	0.36412|.	0.381;0.027;0.552;0.397;0.214|.	B;B;B;B;B|.	0.43990|.	0.103;0.012;0.438;0.199;0.113|.	T|T	0.55270|0.55270	-0.8167|-0.8167	10|5	0.20519|.	T|.	0.43|.	-11.4381|-11.4381	13.062|13.062	0.59012|0.59012	0.0:0.1294:0.747:0.1236|0.0:0.1294:0.747:0.1236	.|.	725;170;725;694;693|.	Q9H8V3;Q96SJ9;Q9H8V3-3;G5E9L8;Q9H8V3-2|.	ECT2_HUMAN;.;.;.;.|.	T|N	694;725;694;693;694;725|64	ENSP00000232458:A694T;ENSP00000376457:A725T;ENSP00000401910:A694T;ENSP00000415876:A693T;ENSP00000412259:A694T;ENSP00000443160:A725T|.	ENSP00000232458:A694T|.	A|S	+|+	1|2	0|0	ECT2|ECT2	174006281|174006281	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.991000|0.991000	0.79684|0.79684	3.275000|3.275000	0.51639|0.51639	0.888000|0.888000	0.36160|0.36160	0.650000|0.650000	0.86243|0.86243	GCT|AGC	ECT2-004	NOVEL	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000345995.3		+	ENST00000417960.1	Missense_Mutation	SNP	3 : 172523587 - 172523587 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	278	52
PARP1	142	broad.mit.edu	37	1	226566902	226566902	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226566902G>A	ENST00000366794.5	-	12	1829	c.1686C>T	c.(1684-1686)atC>atT	p.I562I		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	562					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TTCCTTTAACGATGTCCACCA	0.537		NA						Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													213	186	195			NA	NA	1		NA											NA				226566902		2203	4300	6503	SO:0001819	synonymous_variant			BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	142	142	2.4.2.30	Poly (ADP-ribose) polymerases	270	protein-coding gene	gene with protein product		173870	ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase), poly (ADP-ribose) polymerase family, member 1	PPOL, ADPRT	NA	10964595	Standard	NM_001618	NM_001618	NA	Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.1686C>T	1.37:g.226566902G>A		NA	B1ANJ4|Q8IUZ9	37	CCDS1554.1																																																																																			PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091519.1		-	ENST00000366794.5	Silent	SNP	1 : 226566902 - 226566902 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	827	213
TXNDC16	57544	broad.mit.edu	37	14	52978026	52978026	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52978026G>T	ENST00000281741.4	-	9	1059	c.688C>A	c.(688-690)Cta>Ata	p.L230I	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	230					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TGTTCCATTAGTGTTCTTCTA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	149	154			NA	NA	14		NA											NA				52978026		2203	4300	6503	SO:0001583	missense			AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301	57544	57544			19965	protein-coding gene	gene with protein product			KIAA1344	KIAA1344	NA		Standard	XM_051699	NM_020784	NA	Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.688C>A	14.37:g.52978026G>T	ENSP00000281741:p.Leu230Ile	NA	A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	37	CCDS32083.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.438796	0.25900	.	.	ENSG00000087301	ENST00000281741	T	0.18174	2.23	5.13	3.27	0.37495	.	0.605074	0.16762	N	0.200572	T	0.11452	0.0279	L	0.50919	1.6	0.23943	N	0.996394	B;B	0.31485	0.325;0.214	B;B	0.19391	0.025;0.023	T	0.19679	-1.0298	10	0.19147	T	0.46	-9.7799	4.3288	0.11053	0.1874:0.0:0.6307:0.1819	.	225;230	B7ZME4;Q9P2K2	.;TXD16_HUMAN	I	230	ENSP00000281741:L230I	ENSP00000281741:L230I	L	-	1	2	TXNDC16	52047776	0.895000	0.30542	1.000000	0.80357	0.988000	0.76386	0.671000	0.25172	1.278000	0.44430	0.460000	0.39030	CTA	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411681.1		-	ENST00000281741.4	Missense_Mutation	SNP	14 : 52978026 - 52978026 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	500	79
C7orf69	80099	broad.mit.edu	37	7	47859172	47859172	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47859172A>G	ENST00000418326.2	+	4	402	c.289A>G	c.(289-291)Aat>Gat	p.N97D	C7orf69_ENST00000258776.4_Missense_Mutation_p.N116D|PKD1L1_ENST00000289672.2_Intron			Q9H7B7	CG069_HUMAN	chromosome 7 open reading frame 69	116						extracellular region				lung(2)	2						CATGGATGGAAATAACTGCTG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	79	80			NA	NA	7		NA											NA				47859172		1889	4126	6015	SO:0001583	missense			BC113681	CCDS43581.1	7p12	2011-12-09			ENSG00000136275	ENSG00000136275	80099	80099			21911	protein-coding gene	gene with protein product					NA		Standard	NM_025031	NM_025031	NA	Approved	FLJ21075	uc003tnz.4	Q9H7B7	OTTHUMG00000155648	ENST00000418326.2:c.289A>G	7.37:g.47859172A>G	ENSP00000389218:p.Asn97Asp	NA	A4D2F1|Q14CN7|Q75MJ5	37		.	.	.	.	.	.	.	.	.	.	A	10.16	1.273272	0.23221	.	.	ENSG00000136275	ENST00000258776;ENST00000418326	T	0.51817	0.69	4.32	-3.18	0.05186	.	.	.	.	.	T	0.23330	0.0564	N	0.19112	0.55	0.09310	N	1	P	0.46512	0.879	B	0.33690	0.168	T	0.18650	-1.0330	9	0.87932	D	0	.	6.1774	0.20451	0.335:0.1688:0.4963:0.0	.	116	Q9H7B7	CG069_HUMAN	D	116;97	ENSP00000258776:N116D	ENSP00000258776:N116D	N	+	1	0	C7orf69	47825697	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.176000	0.09811	-0.459000	0.07013	-0.250000	0.11733	AAT	C7orf69-001	PUTATIVE	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000340972.2		+	ENST00000418326.2	Missense_Mutation	SNP	7 : 47859172 - 47859172 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	162	34
ZNF521	25925	broad.mit.edu	37	18	22804820	22804820	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22804820C>T	ENST00000361524.3	-	4	3210	c.3062G>A	c.(3061-3063)cGc>cAc	p.R1021H	ZNF521_ENST00000584787.1_Missense_Mutation_p.R801H|ZNF521_ENST00000538137.2_Missense_Mutation_p.R1021H	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1021					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CACCACGCAGCGAAAGCCTGT	0.512		NA	T	PAX5	ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													76	65	69			NA	NA	18		NA											NA				22804820		2203	4300	6503	SO:0001583	missense			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795	25925	25925		Zinc fingers, C2H2-type	24605	protein-coding gene	gene with protein product	early hematopoietic zinc finger	610974			NA	11984006, 14630787	Standard	NM_015461	NM_015461	NA	Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3062G>A	18.37:g.22804820C>T	ENSP00000354794:p.Arg1021His	NA	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	37	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463683	0.43736	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.10192	2.9;2.9	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.25158	0.0611	L	0.27053	0.805	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.00449	-1.1732	10	0.56958	D	0.05	-45.0411	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1021	Q96K83	ZN521_HUMAN	H	1021;1055;1021	ENSP00000354794:R1021H;ENSP00000382352:R1021H	ENSP00000354794:R1021H	R	-	2	0	ZNF521	21058818	1.000000	0.71417	0.992000	0.48379	0.982000	0.71751	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	CGC	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000446781.2		-	ENST00000361524.3	Missense_Mutation	SNP	18 : 22804820 - 22804820 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	281	49
GFPT1	2673	broad.mit.edu	37	2	69553337	69553337	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:69553337G>T	ENST00000361060.5	-	19	2206	c.2030C>A	c.(2029-2031)tCt>tAt	p.S677Y	GFPT1_ENST00000357308.4_Missense_Mutation_p.S695Y	NM_002056.3	NP_002047.2	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	NA	SIS 2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						TACAGTCACAGATTTGGCAAG	0.333		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	2		NA											NA				69553337		2203	4300	6503	SO:0001583	missense				CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2673	2673	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	glutamine-fructose-6-phosphate transaminase 1	GFPT	NA	1460020	Standard		NM_002056	NA	Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000361060.5:c.2030C>A	2.37:g.69553337G>T	ENSP00000354347:p.Ser677Tyr	NA	Q53QE6|Q9BXF8	37	CCDS33216.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743510	0.89663	.	.	ENSG00000198380	ENST00000357308;ENST00000361060	T;T	0.74315	-0.83;-0.83	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.92867	0.7731	H	0.99525	4.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95518	0.8592	10	0.87932	D	0	-17.7389	18.5783	0.91163	0.0:0.0:1.0:0.0	.	677	Q06210-2	.	Y	695;677	ENSP00000349860:S695Y;ENSP00000354347:S677Y	ENSP00000349860:S695Y	S	-	2	0	GFPT1	69406841	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.596000	0.98267	2.854000	0.98071	0.655000	0.94253	TCT	GFPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327274.3		-	ENST00000361060.5	Missense_Mutation	SNP	2 : 69553337 - 69553337 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	160	40
ADAMTS7	11173	broad.mit.edu	37	15	79064008	79064008	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79064008C>A	ENST00000388820.4	-	15	2505	c.2295G>T	c.(2293-2295)ggG>ggT	p.G765G	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	765	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TGAAGGTGGTCCCTGCCACCT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	56	61			NA	NA	15		NA											NA				79064008		2196	4293	6489	SO:0001819	synonymous_variant			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378	11173	11173		ADAM metallopeptidases with thrombospondin type 1 motif	223	protein-coding gene	gene with protein product	COMPase, a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein	605009	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7		NA	10464288	Standard	NM_014272	NM_014272	NA	Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2295G>T	15.37:g.79064008C>A		NA	Q14F51|Q6P7J9	37	CCDS32303.1																																																																																			ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421331.1		-	ENST00000388820.4	Silent	SNP	15 : 79064008 - 79064008 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	251	26
NOMO2	283820	broad.mit.edu	37	16	18532153	18532153	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:18532153G>T	ENST00000330537.6	-	19	2377	c.2207C>A	c.(2206-2208)cCt>cAt	p.P736H	NOMO2_ENST00000381474.3_Missense_Mutation_p.P736H|NOMO2_ENST00000543392.1_Missense_Mutation_p.P569H	NM_173614.2	NP_775885.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	736						endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						CTGCACGGGAGGCTTGGTCAT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													284	288	287			NA	NA	16		NA											NA				18532153		2196	4298	6494	SO:0001583	missense			AL512687	CCDS10570.1, CCDS32394.1	16p12.3	2008-02-05			ENSG00000185164	ENSG00000185164	283820	283820			22652	protein-coding gene	gene with protein product		609158			NA	15257293	Standard	NM_001004060	NM_001004060	NA	Approved	NOMO, PM5	uc002dfe.3	Q5JPE7	OTTHUMG00000131366	ENST00000330537.6:c.2207C>A	16.37:g.18532153G>T	ENSP00000331851:p.Pro736His	NA		37	CCDS10570.1	.	.	.	.	.	.	.	.	.	.	.	13.19	2.163273	0.38217	.	.	ENSG00000185164	ENST00000330537;ENST00000381474;ENST00000543392	T;T;T	0.04119	3.72;3.71;3.7	3.37	2.4	0.29515	.	0.056200	0.64402	D	0.000001	T	0.07143	0.0181	N	0.08118	0	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.98	T	0.45293	-0.9271	10	0.46703	T	0.11	-11.1418	9.5696	0.39420	0.1064:0.0:0.8936:0.0	.	569;736	Q4G177;Q5JPE7	.;NOMO2_HUMAN	H	736;736;569	ENSP00000331851:P736H;ENSP00000370883:P736H;ENSP00000439970:P569H	ENSP00000331851:P736H	P	-	2	0	NOMO2	18439654	1.000000	0.71417	0.092000	0.20876	0.179000	0.23085	6.912000	0.75753	0.719000	0.32188	0.455000	0.32223	CCT	NOMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254155.1		-	ENST00000330537.6	Missense_Mutation	SNP	16 : 18532153 - 18532153 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1072	140
PGM3	5238	broad.mit.edu	37	6	83900687	83900687	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83900687C>A	ENST00000512866.1	-	2	99	c.45G>T	c.(43-45)aaG>aaT	p.K15N	PGM3_ENST00000506587.1_Missense_Mutation_p.K43N|PGM3_ENST00000283977.4_Intron|PGM3_ENST00000513973.1_Missense_Mutation_p.K15N	NM_001199919.1	NP_001186848.1	O95394	AGM1_HUMAN	phosphoglucomutase 3	15					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		GTCCATTGGGCTTGGCGTGTA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	141	148			NA	NA	6		NA											NA				83900687		2203	4300	6503	SO:0001583	missense			BC001258	CCDS4997.1, CCDS56435.1, CCDS56436.1, CCDS75487.1	6q14.1-q15	2012-10-02			ENSG00000013375	ENSG00000013375	5238	5238	5.4.2.3		8907	protein-coding gene	gene with protein product	acetylglucosamine phosphomutase	172100			NA	12174217, 10721701	Standard	NM_015599	NM_001199917	NA	Approved	AGM1, DKFZP434B187, PAGM	uc011dyz.2	O95394	OTTHUMG00000015110	ENST00000512866.1:c.45G>T	6.37:g.83900687C>A	ENSP00000421565:p.Lys15Asn	NA	B2RB65|E1P547|Q5JWR4|Q96J46|Q9H8G5|Q9NS94|Q9NTT6|Q9UFV5|Q9UIY2	37	CCDS56435.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747986	0.49257	.	.	ENSG00000013375	ENST00000513973;ENST00000512866;ENST00000506587;ENST00000507554;ENST00000508748;ENST00000503094	T;T;T	0.48201	0.85;0.84;0.82	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.66458	0.2791	M	0.90483	3.12	0.80722	D	1	D;D	0.65815	0.995;0.99	P;P	0.62649	0.905;0.837	T	0.70605	-0.4826	10	0.46703	T	0.11	-16.0693	15.1568	0.72749	0.0:0.9308:0.0:0.0692	.	43;15	E9PF86;O95394	.;AGM1_HUMAN	N	15;15;43;15;43;43	ENSP00000424874:K15N;ENSP00000421565:K15N;ENSP00000425809:K43N	ENSP00000422362:K43N	K	-	3	2	PGM3	83957406	0.991000	0.36638	1.000000	0.80357	0.186000	0.23388	0.307000	0.19296	2.706000	0.92434	0.655000	0.94253	AAG	PGM3-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366386.1		-	ENST00000512866.1	Missense_Mutation	SNP	6 : 83900687 - 83900687 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	406	76
VNN3	55350	broad.mit.edu	37	6	133044130	133044130	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:133044130G>A	ENST00000414302.2	-	0	1246				VNN3_ENST00000367927.5_3'UTR|VNN3_ENST00000423615.2_3'UTR|VNN3_ENST00000427187.2_3'UTR|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000275223.3_3'UTR|VNN3_ENST00000417437.2_3'UTR|VNN3_ENST00000509351.1_3'UTR|VNN3_ENST00000207771.3_Silent_p.L480L|VNN3_ENST00000392393.3_3'UTR					vanin 3	NA										cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		CTTCCATACAGGGCCATAACT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	88	93			NA	NA	6		NA											NA				133044130		876	1991	2867	SO:0001624	3_prime_UTR_variant			AJ238982		6q23.2	2014-04-09	2010-11-15	2010-11-15	ENSG00000093134	ENSG00000093134	55350	55350	3.5.1.92	Vanins	16431	other	unknown		606592			NA	10501839, 19932582, 19322213	Standard	NR_028290	NR_028290	NA	Approved	HSA238982	uc010kfs.3	Q9NY84	OTTHUMG00000015589	ENST00000414302.2:c.*845C>T	6.37:g.133044130G>A		NA		37																																																																																				VNN3-008	KNOWN	NMD_exception|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000398413.1		-	ENST00000414302.2	3'UTR	SNP	6 : 133044130 - 133044130 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	195	42
OR10A5	144124	broad.mit.edu	37	11	6867249	6867249	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6867249A>G	ENST00000299454.4	+	1	367	c.336A>G	c.(334-336)gaA>gaG	p.E112E	OR10A5_ENST00000379831.2_Silent_p.E116E			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGGTAGCTGAATGCTTCCTCC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(44;21 1072 25662 28041 45559)							NA				0													122	120	121			NA	NA	11		NA											NA				6867249		2201	4296	6497	SO:0001819	synonymous_variant			AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363	144124	144124		GPCR / Class A : Olfactory receptors	15131	protein-coding gene	gene with protein product		608493		OR10A1	NA		Standard	NM_178168	NM_178168	NA	Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.336A>G	11.37:g.6867249A>G		NA	O95223|Q52M66|Q96R21|Q96R22	37	CCDS7773.1																																																																																			OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385983.1		+	ENST00000299454.4	Silent	SNP	11 : 6867249 - 6867249 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	841	162
MAGEC1	9947	broad.mit.edu	37	X	140994053	140994053	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140994053C>A	ENST00000285879.4	+	4	1149	c.863C>A	c.(862-864)cCt>cAt	p.P288H	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	288							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CAGAGTTCCCCTGAGAGAACT	0.488		NA								HNSCC(15;0.026)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	96	99			NA	NA	X		NA											NA				140994053		2201	4274	6475	SO:0001583	missense			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495	9947	9947			6812	protein-coding gene	gene with protein product	cancer/testis antigen family 7, member 1	300223			NA	9485030, 9618514	Standard	NM_005462	NM_005462	NA	Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.863C>A	X.37:g.140994053C>A	ENSP00000285879:p.Pro288His	NA	O75451|Q8TCV4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	5.342	0.248409	0.10130	.	.	ENSG00000155495	ENST00000285879;ENST00000370511;ENST00000370510	T;T	0.14893	3.24;2.47	.	.	.	.	.	.	.	.	T	0.09423	0.0232	N	0.08118	0	0.80722	D	1	D	0.54964	0.969	P	0.47162	0.54	T	0.28427	-1.0044	8	0.39692	T	0.17	.	5.9409	0.19192	0.0:0.9994:0.0:6.0E-4	.	288	O60732	MAGC1_HUMAN	H	288;90;89	ENSP00000285879:P288H;ENSP00000359542:P90H	ENSP00000285879:P288H	P	+	2	0	MAGEC1	140821719	0.000000	0.05858	0.024000	0.17045	0.024000	0.10985	-0.143000	0.10296	0.148000	0.19059	0.150000	0.16122	CCT	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058604.1		+	ENST00000285879.4	Missense_Mutation	SNP	X : 140994053 - 140994053 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	706	275
NLRP1	22861	broad.mit.edu	37	17	5456838	5456838	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5456838A>C	ENST00000262467.5	-	5	2969	c.2396T>G	c.(2395-2397)aTt>aGt	p.I799S	NLRP1_ENST00000269280.4_Missense_Mutation_p.I799S|NLRP1_ENST00000577119.1_Missense_Mutation_p.I799S|NLRP1_ENST00000354411.3_Missense_Mutation_p.I799S|NLRP1_ENST00000345221.3_Missense_Mutation_p.I799S|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000572272.1_Missense_Mutation_p.I799S	NM_001033053.2	NP_001028225.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	799					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GGAGAAGAGAATCTGCCAATA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	77	79			NA	NA	17		NA											NA				5456838		2203	4300	6503	SO:0001583	missense			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592	22861	22861		Nucleotide-binding domain and leucine rich repeat containing	14374	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1	606636	NACHT, leucine rich repeat and PYD (pyrin domain) containing 1, systemic lupus erythematosus, vitiligo-related 1	NALP1, SLEV1	NA	8781126, 12563287, 17377159	Standard	NM_033004	NM_033006	NA	Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000262467.5:c.2396T>G	17.37:g.5456838A>C	ENSP00000262467:p.Ile799Ser	NA	Q9BZZ8|Q9BZZ9|Q9HAV8|Q9UFT4|Q9Y2E0	37	CCDS32537.1	.	.	.	.	.	.	.	.	.	.	A	6.944	0.543931	0.13312	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221;ENST00000537069	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69	4.48	-0.917	0.10485	.	2.379340	0.02045	N	0.049571	T	0.40473	0.1118	L	0.52573	1.65	0.09310	N	0.999994	P;P;P;B;B;B	0.46457	0.58;0.878;0.878;0.044;0.059;0.073	B;B;B;B;B;B	0.44108	0.373;0.441;0.441;0.029;0.03;0.046	T	0.21895	-1.0232	10	0.22109	T	0.4	.	0.8203	0.01110	0.3889:0.1741:0.1:0.3371	.	65;799;799;799;799;799	F5H042;Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;.;NALP1_HUMAN;.;.	S	799;799;799;799;799;65	ENSP00000442029:I799S;ENSP00000262467:I799S;ENSP00000269280:I799S;ENSP00000346390:I799S;ENSP00000324366:I799S	ENSP00000262467:I799S	I	-	2	0	NLRP1	5397562	0.020000	0.18652	0.001000	0.08648	0.008000	0.06430	0.215000	0.17562	0.008000	0.14787	0.533000	0.62120	ATT	NLRP1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000439513.1		-	ENST00000262467.5	Missense_Mutation	SNP	17 : 5456838 - 5456838 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	316	52
FOXD3	27022	broad.mit.edu	37	1	63789347	63789347	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:63789347G>A	ENST00000371116.2	+	1	618	c.618G>A	c.(616-618)ccG>ccA	p.P206P	RP4-792G4.2_ENST00000427268.1_RNA	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3	206					axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	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			breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						CCCGCGAGCCGGGCAACCCGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(68;276 1750 11966 31252)							NA				0													86	101	96			NA	NA	1		NA											NA				63789347		2203	4300	6503	SO:0001819	synonymous_variant			AF197560	CCDS624.1	1p31.3	2008-04-10			ENSG00000187140	ENSG00000187140	27022	27022		Forkhead boxes	3804	protein-coding gene	gene with protein product		611539			NA	8499623	Standard		NM_012183	NA	Approved	Genesis, HFH2	uc001dax.2	Q9UJU5	OTTHUMG00000009141	ENST00000371116.2:c.618G>A	1.37:g.63789347G>A		NA	Q9BYM2|Q9UDD1	37	CCDS624.1																																																																																			FOXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025331.1		+	ENST00000371116.2	Silent	SNP	1 : 63789347 - 63789347 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	932	191
GPD1	2819	broad.mit.edu	37	12	50499448	50499448	+	Missense_Mutation	SNP	G	G	A	rs1128867		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50499448G>A	ENST00000301149.3	+	3	569	c.337G>A	c.(337-339)Gcc>Acc	p.A113T	GPD1_ENST00000548814.1_Missense_Mutation_p.A90T|GPD1_ENST00000547190.1_3'UTR	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	113			A -> P (in dbSNP:rs1128867).		glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	GAAGGCAAACGCCACTGGCAT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(141;1402 1905 9497 13391 44868)							NA				0													70	58	62			NA	NA	12		NA											NA				50499448		2203	4300	6503	SO:0001583	missense				CCDS8799.1, CCDS58229.1	12q13.12	2013-09-20			ENSG00000167588	ENSG00000167588	2819	2819	1.1.1.8		4455	protein-coding gene	gene with protein product		138420			NA		Standard		NM_005276	NA	Approved		uc001rvz.4	P21695	OTTHUMG00000169813	ENST00000301149.3:c.337G>A	12.37:g.50499448G>A	ENSP00000301149:p.Ala113Thr	NA	Q8N1B0	37	CCDS8799.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288161	0.40494	.	.	ENSG00000167588	ENST00000301149;ENST00000547190;ENST00000548814	T;T	0.57907	0.37;0.37	5.39	-7.07	0.01563	Glycerol-3-phosphate dehydrogenase, NAD-dependent, N-terminal (1);NAD(P)-binding domain (1);	0.470065	0.25291	N	0.031732	T	0.45975	0.1369	L	0.51422	1.61	0.33928	D	0.64173	D;B;B	0.56035	0.974;0.066;0.031	P;B;B	0.46510	0.519;0.047;0.04	T	0.62656	-0.6808	10	0.51188	T	0.08	-24.2271	15.4312	0.75102	0.5483:0.0:0.4517:0.0	.	113;90;113	B4DJ37;F8W1L5;P21695	.;.;GPDA_HUMAN	T	113;113;90	ENSP00000301149:A113T;ENSP00000446768:A90T	ENSP00000301149:A113T	A	+	1	0	GPD1	48785715	0.009000	0.17119	0.064000	0.19789	0.718000	0.41266	0.206000	0.17375	-1.889000	0.01112	-1.267000	0.01435	GCC	GPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406018.1		+	ENST00000301149.3	Missense_Mutation	SNP	12 : 50499448 - 50499448 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	278	40
HEXIM1	10614	broad.mit.edu	37	17	43227267	43227267	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43227267G>T	ENST00000332499.2	+	1	2584	c.710G>T	c.(709-711)aGc>aTc	p.S237I		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	237	Autoinhibitory acidic region; in absence of 7SK snRNA interacts with the basic region preventing interaction with P-TEFb and modulating subcellular localization.				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						GACGACACCAGCGATGACGAC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	41	40			NA	NA	17		NA											NA				43227267		2202	4299	6501	SO:0001583	missense			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.710G>T	17.37:g.43227267G>T	ENSP00000328773:p.Ser237Ile	NA	B2R8Y5	37	CCDS11495.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925625	0.73213	.	.	ENSG00000186834	ENST00000332499	.	.	.	4.74	4.74	0.60224	.	0.217998	0.45606	D	0.000351	T	0.62636	0.2444	M	0.77616	2.38	0.44771	D	0.997773	P	0.51933	0.949	P	0.46110	0.504	T	0.69752	-0.5060	9	0.66056	D	0.02	-16.1972	12.2268	0.54465	0.0:0.1719:0.828:0.0	.	237	O94992	HEXI1_HUMAN	I	237	.	ENSP00000328773:S237I	S	+	2	0	HEXIM1	40583050	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.643000	0.83403	2.187000	0.69744	0.561000	0.74099	AGC	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449821.2		+	ENST00000332499.2	Missense_Mutation	SNP	17 : 43227267 - 43227267 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	464	68
RBP4	5950	broad.mit.edu	37	10	95353719	95353719	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:95353719G>A	ENST00000371467.1	-	5	748	c.429C>T	c.(427-429)ctC>ctT	p.L143L	RBP4_ENST00000371469.2_Silent_p.L141L|RBP4_ENST00000371464.3_Silent_p.L143L|FFAR4_ENST00000604414.1_Intron			P02753	RET4_HUMAN	retinol binding protein 4, plasma	143					cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	AGGTGCCATCGAGGTTCAGGA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(5;160 256 1117 46697 50185)							NA				0								G		0,4406		0,0,2203	146	120	129		429	-11.6	0	10		129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RBP4	NM_006744.3		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		143/202	95353719	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			BC020633	CCDS31249.1	10q23.33	2014-01-22	2001-11-28		ENSG00000138207	ENSG00000138207	5950	5950		Lipocalins	9922	protein-coding gene	gene with protein product		180250	retinol-binding protein 4, plasma		NA		Standard	NM_006744	XM_005270023	NA	Approved		uc001kit.3	P02753	OTTHUMG00000018773	ENST00000371467.1:c.429C>T	10.37:g.95353719G>A		NA	D3DR38|O43478|O43479|Q5VY24|Q8WWA3|Q9P178	37	CCDS31249.1																																																																																			RBP4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049431.1		-	ENST00000371467.1	Silent	SNP	10 : 95353719 - 95353719 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	727	131
IGF1R	3480	broad.mit.edu	37	15	99456414	99456414	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99456414C>T	ENST00000558762.1	+	8	2269	c.1731C>T	c.(1729-1731)taC>taT	p.Y577Y	IGF1R_ENST00000268035.6_Silent_p.Y577Y			P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	577	Fibronectin type-III 1.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GGACTCAGTACGCCGTTTACG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	98	112			NA	NA	15		NA											NA				99456414		2197	4297	6494	SO:0001819	synonymous_variant			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443	3480	3480		CD molecules, Fibronectin type III domain containing	5465	protein-coding gene	gene with protein product		147370			NA	1316909	Standard	NM_000875	XM_006720486	NA	Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000558762.1:c.1731C>T	15.37:g.99456414C>T		NA	B1B5Y2|Q14CV2|Q9UCC0	37																																																																																				IGF1R-002	NOVEL	NAGNAG_splice_site|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000415271.1		+	ENST00000558762.1	Silent	SNP	15 : 99456414 - 99456414 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	400	59
NRG1	3084	broad.mit.edu	37	8	32453476	32453476	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:32453476G>A	ENST00000287842.3	+	2	691	c.231G>A	c.(229-231)ttG>ttA	p.L77L	NRG1_ENST00000341377.5_Silent_p.L77L|NRG1_ENST00000519301.1_Silent_p.L56L|NRG1_ENST00000521670.1_Silent_p.L77L|NRG1_ENST00000338921.4_Silent_p.L77L|NRG1_ENST00000405005.3_Silent_p.L77L|NRG1_ENST00000523079.1_Silent_p.L77L|NRG1_ENST00000356819.4_Silent_p.L77L|NRG1_ENST00000287845.5_Silent_p.L77L|NRG1_ENST00000520407.1_Silent_p.L292L	NM_001160004.1|NM_013957.3	NP_001153476.1|NP_039251.2	Q02297	NRG1_HUMAN	neuregulin 1	77	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GGAATGAATTGAATCGAAAAA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	116	113			NA	NA	8		NA											NA				32453476		2203	4300	6503	SO:0001819	synonymous_variant			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168	3084	3084		Immunoglobulin superfamily / I-set domain containing	7997	protein-coding gene	gene with protein product		142445	NRG1 intronic transcript 2 (non-protein coding)	HGL, NRG1-IT2	NA	1350381, 8095334	Standard		NM_013962	NA	Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000287842.3:c.231G>A	8.37:g.32453476G>A		NA	A5YAK4|A5YAK5|A8K1L2|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	37	CCDS6084.1																																																																																			NRG1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376467.1		+	ENST00000287842.3	Silent	SNP	8 : 32453476 - 32453476 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	569	99
MACF1	23499	broad.mit.edu	37	1	39851459	39851459	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39851459G>A	ENST00000372915.3	+	56	14304	c.14217G>A	c.(14215-14217)gaG>gaA	p.E4739E	MACF1_ENST00000317713.7_Silent_p.E2672E|MACF1_ENST00000545844.1_Silent_p.E2672E|MACF1_ENST00000361689.2_Silent_p.E2672E|MACF1_ENST00000289893.4_Silent_p.E3174E|MACF1_ENST00000567887.1_Silent_p.E4771E|MACF1_ENST00000539005.1_Silent_p.E2651E|MACF1_ENST00000564288.1_Silent_p.E4734E			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4739					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGACTTGGAGCAGTTAGACC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	103	106			NA	NA	1		NA											NA				39851459		2203	4300	6503	SO:0001819	synonymous_variant			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603	23499	23499		EF-hand domain containing	13664	protein-coding gene	gene with protein product	actin cross-linking factor, 620 kDa actin binding protein, macrophin 1, trabeculin-alpha, actin cross-linking family protein 7	608271			NA	7635207, 10529403	Standard	NM_033044	NM_012090	NA	Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.14217G>A	1.37:g.39851459G>A		NA	E9PJT0|O75053|Q5VW20|Q8WXY2|Q9H540|Q9UKP0|Q9ULG9	37		.	.	.	.	.	.	.	.	.	.	G	6.865	0.528900	0.13127	.	.	ENSG00000127603	ENST00000372925	.	.	.	6.06	-0.123	0.13527	.	.	.	.	.	T	0.57373	0.2049	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50372	-0.8836	4	.	.	.	.	10.0573	0.42252	0.4608:0.0:0.5392:0.0	.	.	.	.	T	1785	.	.	A	+	1	0	MACF1	39624046	1.000000	0.71417	0.633000	0.29310	0.841000	0.47740	1.693000	0.37742	-0.262000	0.09392	-0.136000	0.14681	GCA	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000392096.1		+	ENST00000372915.3	Silent	SNP	1 : 39851459 - 39851459 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	339	16
TLE4	7091	broad.mit.edu	37	9	82335058	82335058	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:82335058C>T	ENST00000376552.2	+	16	2706	c.1688C>T	c.(1687-1689)gCg>gTg	p.A563V	TLE4_ENST00000265284.6_Missense_Mutation_p.A538V|TLE4_ENST00000376537.4_Missense_Mutation_p.A595V|TLE4_ENST00000376520.4_Missense_Mutation_p.A595V|TLE4_ENST00000376544.3_Missense_Mutation_p.A494V|TLE4_ENST00000376534.4_Missense_Mutation_p.A200V	NM_007005.3	NP_008936.2	O60756	BCE1_HUMAN	transducin-like enhancer of split 4	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TGGGACCTGGCGGCTCCAACC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	63	63			NA	NA	9		NA											NA				82335058		2203	4300	6503	SO:0001583	missense			M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829	7091	7091		WD repeat domain containing	11840	protein-coding gene	gene with protein product		605132	transducin-like enhancer of split 4, homolog of Drosophila E(sp1), transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)		NA	8365415	Standard	XM_212237	XM_005252167	NA	Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.1688C>T	9.37:g.82335058C>T	ENSP00000365735:p.Ala563Val	NA		37	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.636386	0.87760	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000376537;ENST00000376534;ENST00000265284	T;T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76;2.76	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.19406	0.0466	L	0.35723	1.085	0.80722	D	1	D;D;D;D	0.89917	0.998;0.993;0.98;1.0	P;B;B;P	0.52454	0.699;0.229;0.347;0.691	T	0.00128	-1.2018	10	0.66056	D	0.02	-18.4705	19.8557	0.96758	0.0:1.0:0.0:0.0	.	538;494;595;563	F8W6T6;Q04727-2;Q04727-3;Q04727	.;.;.;TLE4_HUMAN	V	563;494;595;595;200;538	ENSP00000365735:A563V;ENSP00000365727:A494V;ENSP00000365703:A595V;ENSP00000365720:A595V;ENSP00000365717:A200V;ENSP00000265284:A538V	ENSP00000265284:A538V	A	+	2	0	TLE4	81524878	1.000000	0.71417	0.983000	0.44433	0.964000	0.63967	7.818000	0.86416	2.688000	0.91661	0.591000	0.81541	GCG	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052792.4		+	ENST00000376552.2	Missense_Mutation	SNP	9 : 82335058 - 82335058 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	295	57
CEP89	84902	broad.mit.edu	37	19	33450866	33450866	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33450866C>A	ENST00000305768.5	-	3	333	c.245G>T	c.(244-246)aGc>aTc	p.S82I	CEP89_ENST00000590597.2_Missense_Mutation_p.S82I	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	NA						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TTCAACACTGCTCACATCACT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	112	121			NA	NA	19		NA											NA				33450866		2203	4300	6503	SO:0001583	missense			AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289	84902	84902			25907	protein-coding gene	gene with protein product		615470	coiled-coil domain containing 123	CCDC123	NA	16395595	Standard	NM_032816	NM_032816	NA	Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.245G>T	19.37:g.33450866C>A	ENSP00000306105:p.Ser82Ile	NA	B9EGA6|Q8N5J8	37	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	C	4.594	0.110321	0.08780	.	.	ENSG00000121289	ENST00000305768	T	0.33438	1.41	5.48	-0.632	0.11523	.	0.450229	0.24359	N	0.039210	T	0.15132	0.0365	N	0.16656	0.425	0.09310	N	1	B;B	0.13145	0.001;0.007	B;B	0.11329	0.003;0.006	T	0.13629	-1.0502	10	0.51188	T	0.08	-1.0987	5.9943	0.19485	0.2923:0.2354:0.4723:0.0	.	82;82	Q96ST8-3;Q96ST8	.;CEP89_HUMAN	I	82	ENSP00000306105:S82I	ENSP00000306105:S82I	S	-	2	0	CEP89	38142706	0.083000	0.21467	0.000000	0.03702	0.002000	0.02628	1.009000	0.29886	-0.007000	0.14345	-0.165000	0.13383	AGC	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451300.2		-	ENST00000305768.5	Missense_Mutation	SNP	19 : 33450866 - 33450866 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	227	32
XPNPEP3	63929	broad.mit.edu	37	22	41282489	41282489	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41282489A>C	ENST00000357137.4	+	4	846	c.762A>C	c.(760-762)cgA>cgC	p.R254R	XPNPEP3_ENST00000544094.1_Silent_p.R231R|XPNPEP3_ENST00000541156.1_Silent_p.R254R|XPNPEP3_ENST00000414396.1_Silent_p.R254R	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	254					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						AAATTGAACGAATGCAGATTG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(145;306 1841 7037 21878 30110)							NA				0													77	80	79			NA	NA	22		NA											NA				41282489		2203	4300	6503	SO:0001819	synonymous_variant				CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236	63929	63929			28052	protein-coding gene	gene with protein product		613553			NA	15708373, 20179356	Standard	NM_022098	NM_022098	NA	Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.762A>C	22.37:g.41282489A>C		NA	B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	37	CCDS14007.1																																																																																			XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322201.2		+	ENST00000357137.4	Silent	SNP	22 : 41282489 - 41282489 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	365	76
PARD3B	117583	broad.mit.edu	37	2	206110532	206110532	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206110532C>T	ENST00000406610.2	+	16	2378	c.2171C>T	c.(2170-2172)gCt>gTt	p.A724V	PARD3B_ENST00000358768.2_Missense_Mutation_p.A662V|PARD3B_ENST00000462231.1_Missense_Mutation_p.A724V|PARD3B_ENST00000351153.1_Missense_Mutation_p.A724V|PARD3B_ENST00000349953.3_Missense_Mutation_p.A724V	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	724					cell cycle|cell division	endomembrane system|tight junction		p.A662V(1)|p.A724V(1)|p.A663V(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CACTCATTGGCTGGACAAAAA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				3	Substitution - Missense(3)	endometrium(3)											154	146	149			NA	NA	2		NA											NA				206110532		1829	4086	5915	SO:0001583	missense			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117	117583	117583			14446	protein-coding gene	gene with protein product			amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19, par-3 partitioning defective 3 homolog B (C. elegans)	ALS2CR19	NA	11586298, 12459187	Standard	NM_057177	NM_057177	NA	Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2171C>T	2.37:g.206110532C>T	ENSP00000385848:p.Ala724Val	NA	Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	37		.	.	.	.	.	.	.	.	.	.	C	11.32	1.603768	0.28534	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.31247	1.54;1.54;1.5;1.54	5.85	4.97	0.65823	.	0.164519	0.40728	N	0.001039	T	0.24236	0.0587	L	0.39633	1.23	0.35627	D	0.80992	P;B;B;P;B	0.39181	0.663;0.282;0.063;0.532;0.007	B;B;B;B;B	0.35607	0.206;0.102;0.026;0.175;0.013	T	0.21895	-1.0232	10	0.30854	T	0.27	.	12.6935	0.56990	0.0:0.9246:0.0:0.0754	.	724;724;724;662;724	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	.;PAR3L_HUMAN;.;.;.	V	724;662;724;724	ENSP00000385848:A724V;ENSP00000351618:A662V;ENSP00000317261:A724V;ENSP00000340280:A724V	ENSP00000340280:A724V	A	+	2	0	PARD3B	205818777	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	2.570000	0.45981	2.768000	0.95171	0.655000	0.94253	GCT	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000335992.1		+	ENST00000406610.2	Missense_Mutation	SNP	2 : 206110532 - 206110532 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	499	125
CLIP2	7461	broad.mit.edu	37	7	73768325	73768325	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73768325C>T	ENST00000361545.5	+	4	1121	c.794C>T	c.(793-795)gCg>gTg	p.A265V	CLIP2_ENST00000223398.6_Missense_Mutation_p.A265V|CLIP2_ENST00000395060.1_Missense_Mutation_p.A265V	NM_032421.2	NP_115797	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	265	CAP-Gly 2.					microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GGGGCGGTGGCGGGCACCAGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	87	86			NA	NA	7		NA											NA				73768325		2203	4300	6503	SO:0001583	missense			AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665	7461	7461			2586	protein-coding gene	gene with protein product		603432	cytoplasmic linker 2, Williams-Beuren syndrome chromosome region 3	WBSCR4, CYLN2, WBSCR3	NA	8812460, 9799601	Standard	NM_003388	NM_003388	NA	Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000361545.5:c.794C>T	7.37:g.73768325C>T	ENSP00000355151:p.Ala265Val	NA	O14527|O43611	37	CCDS5570.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130631	0.77549	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;T;T	0.75050	-0.9;-0.9;-0.9	5.5	5.5	0.81552	Cytoskeleton-associated protein, Gly-rich domain (4);Cytoskeleton-associated protein, Gly-rich conserved site (1);	0.000000	0.85682	D	0.000000	D	0.88647	0.6493	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.987;0.997	D	0.89636	0.3859	10	0.62326	D	0.03	-40.9586	18.1332	0.89608	0.0:1.0:0.0:0.0	.	265;265	Q9UDT6-2;Q9UDT6	.;CLIP2_HUMAN	V	265	ENSP00000223398:A265V;ENSP00000355151:A265V;ENSP00000378500:A265V	ENSP00000223398:A265V	A	+	2	0	CLIP2	73406261	1.000000	0.71417	0.983000	0.44433	0.133000	0.20885	7.452000	0.80683	2.861000	0.98227	0.655000	0.94253	GCG	CLIP2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252555.1		+	ENST00000361545.5	Missense_Mutation	SNP	7 : 73768325 - 73768325 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	886	155
MCHR2	84539	broad.mit.edu	37	6	100395675	100395675	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:100395675C>T	ENST00000281806.2	-	3	669	c.355G>A	c.(355-357)Gcc>Acc	p.A119T	MCHR2_ENST00000369212.2_Missense_Mutation_p.A119T	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	119						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GCACTACAGGCAAATTGGTTA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	161	157			NA	NA	6		NA											NA				100395675		2203	4300	6503	SO:0001583	missense			AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034	84539	84539		GPCR / Class A : MCH receptors	20867	protein-coding gene	gene with protein product		606111	G protein-coupled receptor 145	GPR145	NA	11355873, 11274220	Standard	NM_032503	NM_032503	NA	Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.355G>A	6.37:g.100395675C>T	ENSP00000281806:p.Ala119Thr	NA	B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	37	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	C	7.607	0.673964	0.14841	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.76060	-0.99;-0.99;-0.99	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000008	T	0.50017	0.1591	L	0.35249	1.045	0.40742	D	0.982849	B	0.27140	0.169	B	0.38194	0.267	T	0.51834	-0.8655	10	0.02654	T	1	.	14.8815	0.70537	0.0:1.0:0.0:0.0	.	119	Q969V1	MCHR2_HUMAN	T	119	ENSP00000403490:A119T;ENSP00000281806:A119T;ENSP00000358214:A119T	ENSP00000281806:A119T	A	-	1	0	MCHR2	100502396	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.283000	0.33237	2.089000	0.63090	0.650000	0.86243	GCC	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041620.2		-	ENST00000281806.2	Missense_Mutation	SNP	6 : 100395675 - 100395675 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1070	169
ELTD1	64123	broad.mit.edu	37	1	79403918	79403918	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:79403918C>T	ENST00000370742.3	-	5	506	c.443G>A	c.(442-444)aGa>aAa	p.R148K		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	148					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CACAGAATTTCTATAGACTTC	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	55	57			NA	NA	1		NA											NA				79403918		1798	4059	5857	SO:0001583	missense			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618	64123	64123		-, GPCR / Class B : Orphans	20822	protein-coding gene	gene with protein product					NA	11050079	Standard	NM_022159	NM_022159	NA	Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.443G>A	1.37:g.79403918C>T	ENSP00000359778:p.Arg148Lys	NA	B1AR71|Q5KU34	37	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	C	7.090	0.571971	0.13623	.	.	ENSG00000162618	ENST00000370742	T	0.09163	3.01	5.86	0.105	0.14535	Domain of unknown function DUF3497 (1);	0.462533	0.27831	N	0.017662	T	0.02193	0.0068	L	0.31065	0.9	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.46233	-0.9206	9	.	.	.	.	11.061	0.47946	0.0:0.5536:0.0:0.4464	.	148	Q9HBW9	ELTD1_HUMAN	K	148	ENSP00000359778:R148K	.	R	-	2	0	ELTD1	79176506	0.007000	0.16637	0.956000	0.39512	0.962000	0.63368	-0.065000	0.11617	0.102000	0.17638	0.650000	0.86243	AGA	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026859.1		-	ENST00000370742.3	Missense_Mutation	SNP	1 : 79403918 - 79403918 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	186	22
CSF2RB	1439	broad.mit.edu	37	22	37334204	37334204	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37334204T>C	ENST00000403662.3	+	14	2576	c.2354T>C	c.(2353-2355)gTc>gCc	p.V785A	CSF2RB_ENST00000536485.1_Missense_Mutation_p.V732A|CSF2RB_ENST00000406230.1_Missense_Mutation_p.V791A|CSF2RB_ENST00000262825.5_Missense_Mutation_p.V791A			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	785					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	AACAATCCTGTCCCCCCTGAG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	51	51			NA	NA	22		NA											NA				37334204		2203	4300	6503	SO:0001583	missense			M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368	1439	1439		CD molecules, Fibronectin type III domain containing	2436	protein-coding gene	gene with protein product		138981		IL3RB	NA	1833064, 1424804	Standard	NM_000395	NM_000395	NA	Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.2354T>C	22.37:g.37334204T>C	ENSP00000384053:p.Val785Ala	NA	Q5JZI1|Q6ICE0	37	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	T	0.386	-0.925985	0.02377	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	D;D;D;D	0.90788	-2.22;-2.73;-2.73;-2.73	5.38	-1.52	0.08637	.	0.614872	0.14560	N	0.312136	T	0.63628	0.2527	N	0.01048	-1.04	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.10450	0.005;0.004	T	0.61549	-0.7040	10	0.07030	T	0.85	-8.6352	2.1121	0.03705	0.1292:0.458:0.1419:0.2708	.	791;785	P32927-2;P32927	.;IL3RB_HUMAN	A	785;785;791;791;732	ENSP00000384053:V785A;ENSP00000262825:V791A;ENSP00000385271:V791A;ENSP00000440003:V732A	ENSP00000262825:V791A	V	+	2	0	CSF2RB	35664150	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.161000	0.10026	-0.019000	0.14055	-0.375000	0.07067	GTC	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318854.1		+	ENST00000403662.3	Missense_Mutation	SNP	22 : 37334204 - 37334204 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	445	80
RYR1	6261	broad.mit.edu	37	19	38959659	38959659	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38959659C>T	ENST00000355481.4	+	26	3566	c.3435C>T	c.(3433-3435)ggC>ggT	p.G1145G	RYR1_ENST00000359596.3_Silent_p.G1145G|RYR1_ENST00000360985.3_Silent_p.G1145G	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1145	6 X approximate repeats.|B30.2/SPRY 2.				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)	GGCAGCCGGGCGATGTCGTTG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	81	84			NA	NA	19		NA											NA				38959659		2203	4300	6503	SO:0001819	synonymous_variant			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.3435C>T	19.37:g.38959659C>T		NA	Q16314|Q16368|Q9NPK1|Q9P1U4	37	CCDS42563.1																																																																																			RYR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461017.2		+	ENST00000355481.4	Silent	SNP	19 : 38959659 - 38959659 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	402	73
RPP30	10556	broad.mit.edu	37	10	92655655	92655655	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:92655655C>T	ENST00000371703.3	+	9	869	c.598C>T	c.(598-600)Cca>Tca	p.P200S	RPP30_ENST00000413330.1_Missense_Mutation_p.P200S|RPP30_ENST00000489806.1_3'UTR	NM_006413.4	NP_006404.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	200					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						AATAAGAGGGCCATATGACGT	0.279		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	83	82			NA	NA	10		NA											NA				92655655		2203	4295	6498	SO:0001583	missense			BC006991	CCDS7411.1, CCDS44458.1	10q23.32-q23.33	2012-05-21			ENSG00000148688	ENSG00000148688	10556	10556			17688	protein-coding gene	gene with protein product		606115			NA	9037013, 9308968	Standard	NM_006413	NM_006413	NA	Approved	TSG15	uc001khd.2	P78346	OTTHUMG00000018733	ENST00000371703.3:c.598C>T	10.37:g.92655655C>T	ENSP00000360768:p.Pro200Ser	NA	B2R799	37	CCDS7411.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387205	0.82902	.	.	ENSG00000148688	ENST00000371703;ENST00000413330;ENST00000371705;ENST00000277882;ENST00000414836	T;T;T	0.57436	0.4;0.42;0.53	5.79	5.79	0.91817	Polymerase/histidinol phosphatase-like (1);	0.000000	0.85682	D	0.000000	T	0.75332	0.3835	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.986;0.994	T	0.77245	-0.2659	10	0.66056	D	0.02	-19.3429	18.8041	0.92029	0.0:1.0:0.0:0.0	.	200;200	P78346;E9PB02	RPP30_HUMAN;.	S	200;200;190;222;144	ENSP00000360768:P200S;ENSP00000389182:P200S;ENSP00000277882:P222S	ENSP00000277882:P222S	P	+	1	0	RPP30	92645635	1.000000	0.71417	0.997000	0.53966	0.900000	0.52787	5.882000	0.69714	2.732000	0.93576	0.557000	0.71058	CCA	RPP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049347.1		+	ENST00000371703.3	Missense_Mutation	SNP	10 : 92655655 - 92655655 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	369	41
PEG3	5178	broad.mit.edu	37	19	57327375	57327375	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57327375G>A	ENST00000326441.9	-	10	2798	c.2435C>T	c.(2434-2436)gCt>gTt	p.A812V	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.A812V|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.A688V|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.A686V|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	812					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ATGGTTGATAGCATCGAAGCT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	132	134			NA	NA	19		NA											NA				57327375		2203	4300	6503	SO:0001583	missense			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300	5178	5178		Zinc fingers, C2H2-type, -, -, -	8826	protein-coding gene	gene with protein product		601483			NA	9149948	Standard		NM_006210	NA	Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2435C>T	19.37:g.57327375G>A	ENSP00000326581:p.Ala812Val	NA	P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	7.455	0.643516	0.14451	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02525	4.26;4.26	4.11	-8.05	0.01106	.	2.028870	0.02362	N	0.077017	T	0.00815	0.0027	N	0.00146	-1.995	.	.	.	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.0;0.002;0.001	T	0.51996	-0.8634	9	0.33940	T	0.23	-1.3044	9.2396	0.37489	0.1962:0.2458:0.558:0.0	.	688;812;747	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	V	812	ENSP00000326581:A812V;ENSP00000403051:A812V	ENSP00000326581:A812V	A	-	2	0	ZIM2	62019187	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.000000	0.12993	-1.984000	0.00985	-0.482000	0.04802	GCT	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416099.2		-	ENST00000326441.9	Missense_Mutation	SNP	19 : 57327375 - 57327375 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	873	170
PRR14	78994	broad.mit.edu	37	16	30667463	30667463	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30667463G>A	ENST00000542965.2	+	11	2045	c.1589G>A	c.(1588-1590)cGa>cAa	p.R530Q	PRR14_ENST00000300835.4_Missense_Mutation_p.R530Q			Q9BWN1	PRR14_HUMAN	proline rich 14	530										breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			AGCCTTCCTCGATCACGAAGA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	78	76			NA	NA	16		NA											NA				30667463		2197	4300	6497	SO:0001583	missense			AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858	78994	78994			28458	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024031	NM_024031	NA	Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.1589G>A	16.37:g.30667463G>A	ENSP00000441641:p.Arg530Gln	NA	Q8WTX2	37	CCDS10687.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029849	0.75504	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.59906	0.23;0.23	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.74635	0.3742	M	0.68593	2.085	0.44110	D	0.996881	D	0.76494	0.999	D	0.68765	0.96	T	0.75468	-0.3307	10	0.87932	D	0	-7.6571	17.5606	0.87906	0.0:0.0:1.0:0.0	.	530	Q9BWN1	PRR14_HUMAN	Q	503;530;530	ENSP00000300835:R530Q;ENSP00000441641:R530Q	ENSP00000287463:R503Q	R	+	2	0	PRR14	30574964	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	4.874000	0.63064	2.890000	0.99128	0.650000	0.86243	CGA	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434433.1		+	ENST00000542965.2	Missense_Mutation	SNP	16 : 30667463 - 30667463 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	771	74
TRAPPC10	7109	broad.mit.edu	37	21	45522699	45522699	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45522699C>A	ENST00000291574.4	+	22	3562	c.3387C>A	c.(3385-3387)agC>agA	p.S1129R		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1129					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GTGGGAAAAGCTGCGGTGTCA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	158	161			NA	NA	21		NA											NA				45522699		2203	4300	6503	SO:0001583	missense			U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218	7109	7109		Trafficking protein particle complex	11868	protein-coding gene	gene with protein product	trafficking protein particle complex subunit 130, TRAPP 130 kDa subunit	602103	transmembrane protein 1	TMEM1	NA	7633421	Standard	NM_003274	NM_003274	NA	Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.3387C>A	21.37:g.45522699C>A	ENSP00000291574:p.Ser1129Arg	NA	Q3MIR2|Q9UMD4|Q9Y4L3	37	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655720	0.67586	.	.	ENSG00000160218	ENST00000291574;ENST00000542855	T	0.26660	1.72	5.49	-0.441	0.12257	.	0.000000	0.85682	D	0.000000	T	0.42832	0.1220	L	0.57536	1.79	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.34875	-0.9811	10	0.87932	D	0	.	12.5211	0.56060	0.0:0.6282:0.0:0.3718	.	388;1129	B4DI17;P48553	.;TPC10_HUMAN	R	1129;260	ENSP00000291574:S1129R	ENSP00000291574:S1129R	S	+	3	2	TRAPPC10	44347127	0.437000	0.25593	0.954000	0.39281	0.922000	0.55478	-0.330000	0.07925	-0.043000	0.13513	-0.345000	0.07892	AGC	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195737.1		+	ENST00000291574.4	Missense_Mutation	SNP	21 : 45522699 - 45522699 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	966	184
XRCC6	2547	broad.mit.edu	37	22	42033677	42033677	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42033677G>T	ENST00000359308.4	+	5	1310	c.655G>T	c.(655-657)Gat>Tat	p.D219Y	XRCC6_ENST00000405506.1_Missense_Mutation_p.D169Y|XRCC6_ENST00000360079.3_Missense_Mutation_p.D219Y|XRCC6_ENST00000428575.2_Missense_Mutation_p.D86Y|XRCC6_ENST00000405878.1_Missense_Mutation_p.D219Y|XRCC6_ENST00000402580.3_Missense_Mutation_p.D178Y			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	219					DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						GTTCTACAGAGATATCATCAG	0.488		NA						Non-homologous end-joining						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	33	35			NA	NA	22		NA											NA				42033677		2203	4298	6501	SO:0001583	missense			J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419	2547	2547			4055	protein-coding gene	gene with protein product	Ku autoantigen, 70kDa	152690	thyroid autoantigen 70kD (Ku antigen), thyroid autoantigen 70kDa (Ku antigen)	G22P1	NA	9200330, 9223317	Standard	NM_001469	NM_001469	NA	Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.655G>T	22.37:g.42033677G>T	ENSP00000352257:p.Asp219Tyr	NA	Q6FG89|Q9UCQ2|Q9UCQ3	37	CCDS14021.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842693	0.91197	.	.	ENSG00000196419	ENST00000360079;ENST00000402580;ENST00000428575;ENST00000359308;ENST00000405878;ENST00000402409;ENST00000405506	.	.	.	5.74	5.74	0.90152	Ku70/Ku80, N-terminal alpha/beta (1);	0.000000	0.85682	D	0.000000	D	0.85252	0.5654	M	0.86953	2.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.986;0.983;1.0;0.988	D	0.86954	0.2087	9	0.87932	D	0	-24.6149	19.9357	0.97140	0.0:0.0:1.0:0.0	.	169;219;178;219	B1AHC9;B1AHC7;B1AHC8;P12956	.;.;.;XRCC6_HUMAN	Y	219;178;86;219;219;219;169	.	ENSP00000352257:D219Y	D	+	1	0	XRCC6	40363623	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.209000	0.95087	2.715000	0.92844	0.655000	0.94253	GAT	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321688.1		+	ENST00000359308.4	Missense_Mutation	SNP	22 : 42033677 - 42033677 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	123	16
ACAD8	27034	broad.mit.edu	37	11	134123498	134123498	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134123498C>T	ENST00000281182.4	+	1	110	c.4C>T	c.(4-6)Ctg>Ttg	p.L2L	ACAD8_ENST00000543332.1_5'UTR|ACAD8_ENST00000374752.4_Silent_p.L2L|ACAD8_ENST00000537423.1_5'UTR	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	2					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		GGCGGCTATGCTGTGGAGCGG	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(65;238 1125 33403 41853 48889)							NA				0													5	7	6			NA	NA	11		NA											NA				134123498		1995	3919	5914	SO:0001819	synonymous_variant			AF126245	CCDS8498.1	11q25	2014-09-17	2010-04-30		ENSG00000151498	ENSG00000151498	27034	27034			87	protein-coding gene	gene with protein product		604773	acyl-Coenzyme A dehydrogenase family, member 8		NA	10524212	Standard	NM_014384	NM_014384	NA	Approved		uc001qhk.3	Q9UKU7	OTTHUMG00000167177	ENST00000281182.4:c.4C>T	11.37:g.134123498C>T		NA	Q9BUS8	37	CCDS8498.1																																																																																			ACAD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393607.1		+	ENST00000281182.4	Silent	SNP	11 : 134123498 - 134123498 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	56	11
CEP152	22995	broad.mit.edu	37	15	49064762	49064762	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49064762T>C	ENST00000380950.2	-	13	1891	c.1704A>G	c.(1702-1704)caA>caG	p.Q568Q	CEP152_ENST00000399334.3_Silent_p.Q568Q|CEP152_ENST00000325747.5_Silent_p.Q475Q|CEP152_ENST00000559398.1_5'UTR	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	568					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TGAGGTCATTTTGTAACTGAG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	152	157			NA	NA	15		NA											NA				49064762		1899	4126	6025	SO:0001819	synonymous_variant			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20					22995	22995			29298	protein-coding gene	gene with protein product	asterless	613529	microcephaly, primary autosomal recessive 4	MCPH4	NA	14654843, 21131973	Standard	NM_014985	NM_014985	NA	Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1704A>G	15.37:g.49064762T>C		NA	Q17RV1|Q6NTA0	37	CCDS58361.1																																																																																			CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417365.1		-	ENST00000380950.2	Silent	SNP	15 : 49064762 - 49064762 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	566	88
WDR24	84219	broad.mit.edu	37	16	737061	737061	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:737061T>A	ENST00000293883.4	-	3	1774	c.1015A>T	c.(1015-1017)Aac>Tac	p.N339Y	WDR24_ENST00000248142.6_Missense_Mutation_p.N469Y	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN	WD repeat domain 24	469										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CCCTCAGGGTTGGCGCGCTCG	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	17	15			NA	NA	16		NA											NA				737061		2189	4288	6477	SO:0001583	missense			AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580	84219	84219		WD repeat domain containing	20852	protein-coding gene	gene with protein product			chromosome 16 open reading frame 21	C16orf21	NA	11230166	Standard	NM_032259	NM_032259	NA	Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000293883.4:c.1015A>T	16.37:g.737061T>A	ENSP00000293883:p.Asn339Tyr	NA	A2IDB8|D3DU59|Q96GC7|Q9H0B7	37	CCDS10420.1	.	.	.	.	.	.	.	.	.	.	T	19.02	3.745631	0.69418	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	T;T	0.79554	-1.28;0.15	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	D	0.88093	0.6344	M	0.72118	2.19	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.89353	0.3662	10	0.72032	D	0.01	-23.566	13.5165	0.61543	0.0:0.0:0.0:1.0	.	339	Q96S15-2	.	Y	469;339	ENSP00000248142:N469Y;ENSP00000293883:N339Y	ENSP00000248142:N469Y	N	-	1	0	WDR24	677062	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	7.142000	0.77339	2.033000	0.60031	0.533000	0.62120	AAC	WDR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206852.1		-	ENST00000293883.4	Missense_Mutation	SNP	16 : 737061 - 737061 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	138	26
CYP17A1	1586	broad.mit.edu	37	10	104594579	104594579	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104594579C>A	ENST00000369887.3	-	3	800	c.629G>T	c.(628-630)aGc>aTc	p.S210I	CYP17A1_ENST00000489268.1_5'UTR	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	210					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	GCTGTCTTTGCTCAGGTTGTC	0.483		NA									OREG0020487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													205	179	188			NA	NA	10		NA											NA				104594579		2203	4300	6503	SO:0001583	missense			M19489	CCDS7541.1	10q24.3	2010-05-04	2003-02-14	2003-02-28	ENSG00000148795	ENSG00000148795	1586	1586	1.14.99.9	Cytochrome P450s	2593	protein-coding gene	gene with protein product	Steroid 17-alpha-monooxygenase	609300	cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia	CYP17	NA	1347802	Standard	NM_000102	NM_000102	NA	Approved	P450C17, CPT7, S17AH	uc001kwg.3	P05093	OTTHUMG00000018969	ENST00000369887.3:c.629G>T	10.37:g.104594579C>A	ENSP00000358903:p.Ser210Ile	172	Q5TZV7	37	CCDS7541.1	.	.	.	.	.	.	.	.	.	.	c	17.74	3.464642	0.63513	.	.	ENSG00000148795	ENST00000369887	T	0.70045	-0.45	5.8	-5.97	0.02227	.	0.583949	0.18293	N	0.145653	T	0.54549	0.1865	L	0.39147	1.195	0.09310	N	1	P	0.38565	0.637	P	0.47705	0.555	T	0.52704	-0.8540	10	0.48119	T	0.1	.	3.7562	0.08586	0.0791:0.2916:0.1865:0.4427	.	210	P05093	CP17A_HUMAN	I	210	ENSP00000358903:S210I	ENSP00000358903:S210I	S	-	2	0	CYP17A1	104584569	0.453000	0.25721	0.000000	0.03702	0.002000	0.02628	1.205000	0.32308	-0.686000	0.05170	-0.358000	0.07595	AGC	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050101.1		-	ENST00000369887.3	Missense_Mutation	SNP	10 : 104594579 - 104594579 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	520	81
DLGAP4	22839	broad.mit.edu	37	20	35128951	35128951	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35128951C>T	ENST00000373913.3	+	10	2920	c.2440C>T	c.(2440-2442)Cgg>Tgg	p.R814W	DLGAP4_ENST00000373907.2_Missense_Mutation_p.R817W|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000401952.2_Missense_Mutation_p.R814W|DLGAP4_ENST00000339266.5_Missense_Mutation_p.R817W|DLGAP4_ENST00000340491.4_Missense_Mutation_p.R278W			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	817					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AGAAACAGAGCGGCTGGAAGG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	48	47			NA	NA	20		NA											NA				35128951		2194	4287	6481	SO:0001583	missense			AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845	22839	22839			24476	protein-coding gene	gene with protein product					NA	9115257	Standard	NM_014902	XM_005260329	NA	Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373913.3:c.2440C>T	20.37:g.35128951C>T	ENSP00000363023:p.Arg814Trp	NA	E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	37	CCDS13274.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.288095	0.59976	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266;ENST00000340491	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.86	2.47	0.30058	.	0.049608	0.85682	D	0.000000	T	0.70701	0.3254	M	0.92169	3.28	0.80722	D	1	D;D;D;B	0.89917	1.0;1.0;0.998;0.297	D;D;P;B	0.76575	0.961;0.988;0.745;0.092	T	0.79843	-0.1632	10	0.87932	D	0	.	14.8936	0.70627	0.4214:0.5786:0.0:0.0	.	123;278;817;814	F8WF49;Q9Y2H0-3;Q9Y2H0;Q9Y2H0-1	.;.;DLGP4_HUMAN;.	W	814;814;817;817;278	ENSP00000363023:R814W;ENSP00000384954:R814W;ENSP00000363014:R817W;ENSP00000341633:R817W;ENSP00000345700:R278W	ENSP00000341633:R817W	R	+	1	2	DLGAP4	34562365	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	2.053000	0.41326	0.718000	0.32166	0.655000	0.94253	CGG	DLGAP4-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079023.1		+	ENST00000373913.3	Missense_Mutation	SNP	20 : 35128951 - 35128951 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	481	76
UGT1A4	54657	broad.mit.edu	37	2	234627942	234627942	+	Missense_Mutation	SNP	C	C	T	rs148565852		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234627942C>T	ENST00000373409.3	+	1	519	c.476C>T	c.(475-477)gCg>gTg	p.A159V	UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000406651.1_Intron	NM_007120.2	NP_009051.1			UDP glucuronosyltransferase 1 family, polypeptide A4	NA										autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		CTCTGTGGGGCGGTGCTGGCT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(99;1011 1962 13201 26492)							NA				0								C	,VAL/ALA,,,,,,	3,4403	6.2+/-15.9	0,3,2200	173	174	173		,476,,,,,,	2.5	0	2	dbSNP_134	173	0,8600		0,0,4300	no	intron,missense,intron,intron,intron,intron,intron,intron	UGT1A10,UGT1A8,UGT1A7,UGT1A6,UGT1A5,UGT1A9,UGT1A4	NM_001072.3,NM_007120.2,NM_019075.2,NM_019076.4,NM_019077.2,NM_019078.1,NM_021027.2,NM_205862.1	,64,,,,,,	0,3,6500	TT,TC,CC	NA	0.0,0.0681,0.0231	,,,,,,,	,159/535,,,,,,	234627942	3,13003	2203	4300	6503	SO:0001583	missense			M84128	CCDS33405.1	2q37.1	2014-01-10	2005-07-20		ENSG00000244474	ENSG00000244474	54657	54657		UDP glucuronosyltransferases	12536	other	complex locus constituent		606429	UDP glycosyltransferase 1 family, polypeptide A4		NA	9295054, 1339448	Standard	NM_007120	NM_007120	NA	Approved	HUG-BR2, UGT1D	uc002vux.3	P22310	OTTHUMG00000059119	ENST00000373409.3:c.476C>T	2.37:g.234627942C>T	ENSP00000362508:p.Ala159Val	NA		37	CCDS33405.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.452340	0.01080	6.81E-4	0.0	ENSG00000244474	ENST00000373409	T	0.61040	0.14	4.31	2.51	0.30379	.	.	.	.	.	T	0.31040	0.0784	N	0.04245	-0.25	0.09310	N	1	B;B	0.14438	0.004;0.01	B;B	0.21360	0.004;0.034	T	0.18967	-1.0320	9	0.39692	T	0.17	.	3.9952	0.09554	0.2919:0.4551:0.0:0.253	.	159;159	B8K288;P22310	.;UD14_HUMAN	V	159	ENSP00000362508:A159V	ENSP00000362508:A159V	A	+	2	0	UGT1A4	234292681	0.000000	0.05858	0.022000	0.16811	0.000000	0.00434	-0.418000	0.07080	0.299000	0.22661	-1.537000	0.00914	GCG	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130984.1		+	ENST00000373409.3	Missense_Mutation	SNP	2 : 234627942 - 234627942 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1348	323
PTK6	5753	broad.mit.edu	37	20	62166298	62166298	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62166298G>A	ENST00000217185.2	-	2	372	c.345C>T	c.(343-345)gtC>gtT	p.V115V	PTK6_ENST00000542869.1_Intron	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	115	SH2.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			CACCCGACAGGACGTAGTCGG	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	15	14			NA	NA	20		NA											NA				62166298		2179	4279	6458	SO:0001819	synonymous_variant			U61412	CCDS13524.1, CCDS74750.1	20q13.3	2013-02-18	2013-02-18		ENSG00000101213	ENSG00000101213	5753	5753	2.7.10.1	SH2 domain containing	9617	protein-coding gene	gene with protein product		602004	PTK6 protein tyrosine kinase 6		NA	8247543, 9284935	Standard		NM_005975	NA	Approved	BRK	uc002yfg.4	Q13882	OTTHUMG00000033039	ENST00000217185.2:c.345C>T	20.37:g.62166298G>A		NA	B2RCR3|Q58F01	37	CCDS13524.1																																																																																			PTK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080313.1		-	ENST00000217185.2	Silent	SNP	20 : 62166298 - 62166298 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	107	27
TG	7038	broad.mit.edu	37	8	134144149	134144149	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:134144149G>A	ENST00000220616.4	+	46	7996	c.7956G>A	c.(7954-7956)tcG>tcA	p.S2652S	TG_ENST00000519543.1_Silent_p.S785S|TG_ENST00000542445.1_Silent_p.S1022S|TG_ENST00000377869.1_Silent_p.S2595S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2652					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.S2652S(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGAGCCTGTCGCTGAAAATCA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	pancreas(1)						G		0,4406		0,0,2203	119	119	119		7956	-10.6	0	8		119	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TG	NM_003235.4		0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154		2652/2769	134144149	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832	7038	7038			11764	protein-coding gene	gene with protein product		188450			NA		Standard	NM_003235	NM_003235	NA	Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7956G>A	8.37:g.134144149G>A		NA	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	4.982	0.182462	0.09495	0.0	2.33E-4	ENSG00000042832	ENST00000519178	.	.	.	5.32	-10.6	0.00265	.	.	.	.	.	T	0.31606	0.0802	.	.	.	0.52501	D	0.999955	.	.	.	.	.	.	T	0.69011	-0.5258	4	.	.	.	.	0.5461	0.00654	0.2289:0.2851:0.2121:0.2739	.	.	.	.	T	1108	.	.	A	+	1	0	TG	134213331	0.000000	0.05858	0.002000	0.10522	0.844000	0.47949	-5.450000	0.00121	-7.265000	0.00001	-1.671000	0.00744	GCT	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379606.1		+	ENST00000220616.4	Silent	SNP	8 : 134144149 - 134144149 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	486	82
FAT1	2195	broad.mit.edu	37	4	187534419	187534419	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187534419C>A	ENST00000441802.2	-	13	9516	c.9307G>T	c.(9307-9309)Gga>Tga	p.G3103*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3103	Cadherin 28.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AATCTTCCTCCTCCATCTGTG	0.483		NA								HNSCC(5;0.00058)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(197;1040 2055 4143 4984 49344)							NA				0													89	95	93			NA	NA	4		NA											NA				187534419		2040	4183	6223	SO:0001587	stop_gained			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857	2195	2195		Cadherins / Cadherin-related	3595	protein-coding gene	gene with protein product	cadherin-related family member 8	600976	FAT tumor suppressor (Drosophila) homolog, FAT tumor suppressor homolog 1 (Drosophila)	FAT	NA	8586420	Standard	NM_005245	XM_005262834	NA	Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.9307G>T	4.37:g.187534419C>A	ENSP00000406229:p.Gly3103*	NA		37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	50	16.944003	0.99875	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.19	5.19	0.71726	.	0.051105	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.9177	0.92512	0.0:1.0:0.0:0.0	.	.	.	.	X	3103;3105	.	ENSP00000260147:G3105X	G	-	1	0	FAT1	187771413	1.000000	0.71417	0.984000	0.44739	0.031000	0.12232	7.638000	0.83328	2.712000	0.92718	0.609000	0.83330	GGA	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360209.3		-	ENST00000441802.2	Nonsense_Mutation	SNP	4 : 187534419 - 187534419 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	386	75
PGAP1	80055	broad.mit.edu	37	2	197767389	197767389	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197767389C>A	ENST00000409188.1	-	5	785	c.601G>T	c.(601-603)Gga>Tga	p.G201*	PGAP1_ENST00000409475.1_Nonsense_Mutation_p.G243*|PGAP1_ENST00000354764.4_Nonsense_Mutation_p.G243*|PGAP1_ENST00000485830.1_5'UTR			Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	243					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						TCCCGGAATCCTCCAGCTACA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	96	94			NA	NA	2		NA											NA				197767389		2203	4300	6503	SO:0001587	stop_gained				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121	80055	80055			25712	protein-coding gene	gene with protein product	GPI inositol-deacylase	611655			NA	14734546, 17711852, 24482476	Standard	NM_024989	XM_005246866	NA	Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000409188.1:c.601G>T	2.37:g.197767389C>A	ENSP00000386802:p.Gly201*	NA	Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	37		.	.	.	.	.	.	.	.	.	.	C	36	5.947838	0.97134	.	.	ENSG00000197121	ENST00000354764;ENST00000409475;ENST00000409188	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.3279	18.3984	0.90507	0.0:1.0:0.0:0.0	.	.	.	.	X	243;243;201	.	ENSP00000346809:G243X	G	-	1	0	PGAP1	197475634	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.144000	0.64832	2.573000	0.86826	0.655000	0.94253	GGA	PGAP1-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000335105.1		-	ENST00000409188.1	Nonsense_Mutation	SNP	2 : 197767389 - 197767389 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	473	21
KLHL40	131377	broad.mit.edu	37	3	42727236	42727236	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42727236C>T	ENST00000287777.4	+	1	226	c.126C>T	c.(124-126)cgC>cgT	p.R42R		NM_152393.2	NP_689606.2			kelch-like family member 40	NA											NA						CGGGCGAGCGCGAGTTCCCGT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	31	33			NA	NA	3		NA											NA				42727236		2203	4300	6503	SO:0001819	synonymous_variant			AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119	131377	131377		Kelch-like, BTB/POZ domain containing	30372	protein-coding gene	gene with protein product	sarcosynapsin, nemaline myopathy type 8	615340	kelch repeat and BTB (POZ) domain containing 5, kelch-like 40 (Drosophila)	KBTBD5	NA	23746549	Standard	NM_152393	NM_152393	NA	Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.126C>T	3.37:g.42727236C>T		NA		37	CCDS2703.1																																																																																			KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256651.1		+	ENST00000287777.4	Silent	SNP	3 : 42727236 - 42727236 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	54
CMTR1	23070	broad.mit.edu	37	6	37441300	37441300	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:37441300C>A	ENST00000373451.4	+	17	1908	c.1744C>A	c.(1744-1746)Ctg>Atg	p.L582M		NM_015050.2	NP_055865.1			cap methyltransferase 1	582											NA						CTCTAAAACCCTGGAGAAGAT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	127	134			NA	NA	6		NA											NA				37441300		2203	4300	6503	SO:0001583	missense			BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	23070	23070	2.1.1.57	G patch domain containing	21077	protein-coding gene	gene with protein product			KIAA0082, FtsJ methyltransferase domain containing 2	KIAA0082, FTSJD2	NA	20713356	Standard	NM_015050	NM_015050	NA	Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.1744C>A	6.37:g.37441300C>A	ENSP00000362550:p.Leu582Met	NA		37	CCDS4835.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635839	0.67130	.	.	ENSG00000137200	ENST00000373451	.	.	.	6.17	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.69468	0.3114	M	0.78916	2.43	0.54753	D	0.999983	D	0.63880	0.993	P	0.58331	0.837	T	0.75502	-0.3295	9	0.66056	D	0.02	-15.3338	14.328	0.66532	0.0:0.9289:0.0:0.0711	.	582	Q8N1G2	MTR1_HUMAN	M	582	.	ENSP00000362550:L582M	L	+	1	2	FTSJD2	37549278	0.975000	0.34042	1.000000	0.80357	0.998000	0.95712	2.374000	0.44274	1.627000	0.50400	0.655000	0.94253	CTG	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040408.1		+	ENST00000373451.4	Missense_Mutation	SNP	6 : 37441300 - 37441300 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	553	92
NEMF	9147	broad.mit.edu	37	14	50255946	50255946	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50255946T>G	ENST00000298310.5	-	28	3262	c.2813A>C	c.(2812-2814)aAc>aCc	p.N938T	NEMF_ENST00000546046.1_Missense_Mutation_p.N917T|NEMF_ENST00000382135.2_Missense_Mutation_p.N138T|NEMF_ENST00000545773.1_Missense_Mutation_p.N896T|NEMF_ENST00000556925.1_5'UTR			O60524	NEMF_HUMAN	nuclear export mediator factor	938						cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						TTTCTTAATGTTGTCAGAGAC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													208	203	205			NA	NA	14		NA											NA				50255946		2203	4300	6503	SO:0001583	missense			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525	9147	9147			10663	protein-coding gene	gene with protein product		608378	serologically defined colon cancer antigen 1	SDCCAG1	NA	9610721, 10575219	Standard	NM_004713	XR_429334	NA	Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.2813A>C	14.37:g.50255946T>G	ENSP00000298310:p.Asn938Thr	NA	A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	37	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	T	0.085	-1.176537	0.01646	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000382135;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.31	-0.159	0.13379	.	0.923564	0.09302	N	0.820865	T	0.17916	0.0430	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.14805	0.001;0.004;0.006;0.0;0.011	B;B;B;B;B	0.16289	0.006;0.009;0.007;0.0;0.015	T	0.26573	-1.0099	10	0.14656	T	0.56	1.0719	3.5123	0.07713	0.2167:0.4141:0.0:0.3691	.	917;913;896;938;138	O60524-3;O60524-5;O60524-4;O60524;O60524-2	.;.;.;NEMF_HUMAN;.	T	938;896;138;917;710;896	ENSP00000298310:N938T;ENSP00000438309:N896T;ENSP00000441016:N917T;ENSP00000452540:N896T	ENSP00000298310:N938T	N	-	2	0	NEMF	49325696	0.000000	0.05858	0.006000	0.13384	0.174000	0.22865	0.178000	0.16820	-0.397000	0.07691	-0.385000	0.06624	AAC	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410798.1		-	ENST00000298310.5	Missense_Mutation	SNP	14 : 50255946 - 50255946 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	725	132
TBC1D8	11138	broad.mit.edu	37	2	101624596	101624596	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101624596G>T	ENST00000409318.1	-	20	3285	c.3155C>A	c.(3154-3156)tCt>tAt	p.S1052Y	TBC1D8_ENST00000376840.4_Missense_Mutation_p.S1037Y|RPL31_ENST00000409650.1_Intron|RPL31_ENST00000409038.1_Intron|RPL31_ENST00000409028.4_Intron	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	1037					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GCAGCTTCCAGAGCTGCTGCC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	30	29			NA	NA	2		NA											NA				101624596		2048	4207	6255	SO:0001583	missense			AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634	11138	11138			17791	protein-coding gene	gene with protein product	BUB2-like protein 1, vascular Rab-GAP/TBC-containing protein				NA	10373574	Standard	NM_007063	NM_001102426	NA	Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000409318.1:c.3155C>A	2.37:g.101624596G>T	ENSP00000386856:p.Ser1052Tyr	NA	A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	37		.	.	.	.	.	.	.	.	.	.	G	17.75	3.465430	0.63513	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.03301	3.98;3.98	5.33	5.33	0.75918	.	0.128230	0.37136	N	0.002237	T	0.05410	0.0143	L	0.40543	1.245	0.32090	N	0.591968	P	0.49090	0.919	P	0.49708	0.62	T	0.01715	-1.1289	10	0.05351	T	0.99	-16.2886	12.818	0.57677	0.0849:0.0:0.9151:0.0	.	1037	O95759	TBCD8_HUMAN	Y	1037;1052	ENSP00000366036:S1037Y;ENSP00000386856:S1052Y	ENSP00000366036:S1037Y	S	-	2	0	TBC1D8	100991028	0.982000	0.34865	0.946000	0.38457	0.902000	0.53008	1.889000	0.39718	2.454000	0.82982	0.655000	0.94253	TCT	TBC1D8-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000329176.2		-	ENST00000409318.1	Missense_Mutation	SNP	2 : 101624596 - 101624596 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	211	60
TIMP3	7078	broad.mit.edu	37	22	33255181	33255181	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:33255181C>T	ENST00000266085.6	+	5	754	c.453C>T	c.(451-453)taC>taT	p.Y151Y	SYN3_ENST00000332840.5_Intron|SYN3_ENST00000358763.2_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	151	Mediates interaction with EFEMP1.				negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						AGTCCTGCTACTACCTGCCTT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	117	122			NA	NA	22		NA											NA				33255181		2203	4300	6503	SO:0001819	synonymous_variant				CCDS13911.1	22q12.3	2013-01-08	2008-07-31		ENSG00000100234	ENSG00000100234	7078	7078			11822	protein-coding gene	gene with protein product		188826	tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy, pseudoinflammatory)	SFD	NA	8188246, 12652295	Standard	NM_000362	NM_000362	NA	Approved		uc003anb.3	P35625	OTTHUMG00000030784	ENST00000266085.6:c.453C>T	22.37:g.33255181C>T		NA	B2RBY9|Q5THV4|Q9UC74|Q9UGS2	37	CCDS13911.1																																																																																			TIMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075672.2		+	ENST00000266085.6	Silent	SNP	22 : 33255181 - 33255181 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	503	75
RP11-1055B8.7	0	broad.mit.edu	37	17	79411733	79411733	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79411733G>A	ENST00000307745.7	+	12	2552	c.2552G>A	c.(2551-2553)gGc>gAc	p.G851D							NA											NA						CTGCCCCCCGGCTTCCCCGCC	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	37	34			NA	NA	17		NA											NA				79411733		2022	4139	6161	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000307745.7:c.2552G>A	17.37:g.79411733G>A	ENSP00000303486:p.Gly851Asp	NA		37		.	.	.	.	.	.	.	.	.	.	G	16.64	3.179524	0.57800	.	.	ENSG00000171282	ENST00000307745	T	0.53640	0.61	4.65	4.65	0.58169	.	0.000000	0.52532	D	0.000073	T	0.67505	0.2900	M	0.75264	2.295	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.70450	-0.4868	10	0.56958	D	0.05	.	14.1577	0.65428	0.0:0.1511:0.8488:0.0	.	851;851	Q9P281;F8WBW8	BAHC1_HUMAN;.	D	851	ENSP00000303486:G851D	ENSP00000303486:G851D	G	+	2	0	AC110285.1	77026328	1.000000	0.71417	1.000000	0.80357	0.083000	0.17756	2.649000	0.46656	2.385000	0.81259	0.591000	0.81541	GGC	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding			+	ENST00000307745.7	Missense_Mutation	SNP	17 : 79411733 - 79411733 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	391	95
RAD23A	5886	broad.mit.edu	37	19	13059574	13059574	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13059574G>A	ENST00000586534.1	+	5	608	c.547G>A	c.(547-549)Gcc>Acc	p.A183T	RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000592268.1_Missense_Mutation_p.A183T|RAD23A_ENST00000541222.1_Missense_Mutation_p.A18T|RAD23A_ENST00000316856.3_Missense_Mutation_p.A183T			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	183	UBA 1.				interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						GGTCGTGGCCGCCCTGAGAGC	0.632		NA						Nucleotide excision repair (NER)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	96	95			NA	NA	19		NA											NA				13059574		2203	4300	6503	SO:0001583	missense				CCDS12289.1, CCDS59357.1, CCDS59358.1	19p13.2	2008-07-17	2001-11-28			ENSG00000179262	5886	5886			9812	protein-coding gene	gene with protein product	RAD23, yeast homolog, A	600061	RAD23 (S. cerevisiae) homolog A		NA	7851894	Standard	NM_005053	NM_005053	NA	Approved	HHR23A, MGC111083	uc002mvw.2	P54725		ENST00000586534.1:c.547G>A	19.37:g.13059574G>A	ENSP00000467024:p.Ala183Thr	NA		37	CCDS12289.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.032357	0.93575	.	.	ENSG00000179262	ENST00000316856;ENST00000541222	T;T	0.64618	-0.11;-0.11	4.61	4.61	0.57282	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	H	0.96720	3.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.99;0.99;0.996	D	0.91040	0.4870	10	0.72032	D	0.01	-43.2666	16.2132	0.82185	0.0:0.0:1.0:0.0	.	183;200;183	A8K1J3;Q59EU8;P54725	.;.;RD23A_HUMAN	T	183;18	ENSP00000321365:A183T;ENSP00000438741:A18T	ENSP00000321365:A183T	A	+	1	0	RAD23A	12920574	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	8.974000	0.93433	2.110000	0.64415	0.561000	0.74099	GCC	RAD23A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452752.1		+	ENST00000586534.1	Missense_Mutation	SNP	19 : 13059574 - 13059574 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1204	217
PDE3A	5139	broad.mit.edu	37	12	20522684	20522684	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20522684C>T	ENST00000359062.3	+	1	506	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	156					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CGCCGGGGTGCGCCTGCCTCT	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	17	16			NA	NA	12		NA											NA				20522684		2077	4119	6196	SO:0001583	missense				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	5139	5139	3.1.4.17	Phosphodiesterases	8778	protein-coding gene	gene with protein product		123805			NA	1315035, 10679291	Standard		NM_000921	NA	Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.466C>T	12.37:g.20522684C>T	ENSP00000351957:p.Arg156Cys	NA	O60865|Q13348|Q17RD1	37	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.601857	0.66445	.	.	ENSG00000172572	ENST00000359062	T	0.64085	-0.08	5.21	4.29	0.51040	.	0.996761	0.08141	N	0.991574	T	0.48259	0.1490	N	0.19112	0.55	0.48975	D	0.999733	D	0.55385	0.971	B	0.36666	0.23	T	0.45673	-0.9245	10	0.59425	D	0.04	.	14.7641	0.69626	0.1554:0.8446:0.0:0.0	.	156	Q14432	PDE3A_HUMAN	C	156	ENSP00000351957:R156C	ENSP00000351957:R156C	R	+	1	0	PDE3A	20413951	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.950000	0.56676	1.106000	0.41623	0.555000	0.69702	CGC	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401756.2		+	ENST00000359062.3	Missense_Mutation	SNP	12 : 20522684 - 20522684 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	215	39
RAB11A	8766	broad.mit.edu	37	15	66170283	66170283	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66170283A>T	ENST00000261890.2	+	3	548	c.420A>T	c.(418-420)agA>agT	p.R140S	RAB11A_ENST00000565075.1_Missense_Mutation_p.R140S|RAB11A_ENST00000564910.1_Missense_Mutation_p.R70S|RAB11A_ENST00000569896.1_Missense_Mutation_p.R140S|RAB11A_ENST00000435304.2_Missense_Mutation_p.R140S	NM_001206836.1|NM_004663.4	NP_001193765.1|NP_004654.1	P62491	RB11A_HUMAN	RAB11A, member RAS oncogene family	140					cell cycle|cytokinesis|neuron projection development|plasma membrane to endosome transport|protein localization in plasma membrane|small GTPase mediated signal transduction|vesicle-mediated transport	cleavage furrow|plasma membrane|recycling endosome membrane|trans-Golgi network	GTP binding|GTPase activity|syntaxin binding			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						ATGAAGCAAGAGCTTTTGCAG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													203	181	188			NA	NA	15		NA											NA				66170283		2201	4299	6500	SO:0001583	missense			X56740	CCDS10212.1, CCDS58373.1	15q22.31	2008-05-14			ENSG00000103769	ENSG00000103769	8766	8766		RAB, member RAS oncogene	9760	protein-coding gene	gene with protein product		605570			NA	1704119, 9662449	Standard		NM_004663	NA	Approved	YL8	uc002apk.3	P62491	OTTHUMG00000133162	ENST00000261890.2:c.420A>T	15.37:g.66170283A>T	ENSP00000261890:p.Arg140Ser	NA	B2R4B6|P24410|Q5TZN9|Q9JLX1	37	CCDS10212.1	.	.	.	.	.	.	.	.	.	.	A	15.10	2.732545	0.48939	.	.	ENSG00000103769	ENST00000261890;ENST00000435304	T;T	0.76578	-1.03;-1.03	5.59	4.4	0.53042	Small GTP-binding protein domain (1);	0.045017	0.85682	D	0.000000	T	0.61813	0.2377	N	0.20328	0.56	0.53688	D	0.999975	B;B	0.14805	0.001;0.011	B;B	0.14023	0.002;0.01	T	0.61043	-0.7142	10	0.59425	D	0.04	.	7.7218	0.28736	0.7179:0.1441:0.0:0.138	.	140;140	B4DT13;P62491	.;RB11A_HUMAN	S	140	ENSP00000261890:R140S;ENSP00000405767:R140S	ENSP00000261890:R140S	R	+	3	2	RAB11A	63957337	0.995000	0.38212	1.000000	0.80357	0.999000	0.98932	0.411000	0.21115	2.132000	0.65825	0.533000	0.62120	AGA	RAB11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256864.1		+	ENST00000261890.2	Missense_Mutation	SNP	15 : 66170283 - 66170283 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	697	113
CDH7	1005	broad.mit.edu	37	18	63547943	63547943	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:63547943C>T	ENST00000397968.2	+	12	2597	c.2171C>T	c.(2170-2172)gCt>gTt	p.A724V	CDH7_ENST00000323011.3_Missense_Mutation_p.A724V	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	724					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GATCCTGGTGCTCCTCCTTAT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	126	123			NA	NA	18		NA											NA				63547943		2203	4300	6503	SO:0001583	missense			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138	1005	1005		Cadherins / Major cadherins	1766	protein-coding gene	gene with protein product		605806			NA	9615235	Standard	NM_033646	NM_033646	NA	Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.2171C>T	18.37:g.63547943C>T	ENSP00000381058:p.Ala724Val	NA	Q9H157	37	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.886486	0.33348	.	.	ENSG00000081138	ENST00000323011;ENST00000397966;ENST00000397968	T;T	0.78003	-1.14;-1.14	5.37	5.37	0.77165	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	T	0.81297	0.4793	N	0.25245	0.725	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79181	-0.1909	10	0.27785	T	0.31	.	19.1123	0.93321	0.0:1.0:0.0:0.0	.	724	Q9ULB5	CADH7_HUMAN	V	724	ENSP00000319166:A724V;ENSP00000381058:A724V	ENSP00000319166:A724V	A	+	2	0	CDH7	61698923	1.000000	0.71417	0.103000	0.21229	0.029000	0.11900	7.818000	0.86416	2.515000	0.84797	0.655000	0.94253	GCT	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256217.2		+	ENST00000397968.2	Missense_Mutation	SNP	18 : 63547943 - 63547943 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	784	149
SLITRK5	26050	broad.mit.edu	37	13	88329152	88329152	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:88329152G>A	ENST00000325089.6	+	2	1728	c.1509G>A	c.(1507-1509)ccG>ccA	p.P503P	SLITRK5_ENST00000400028.3_Silent_p.P262P	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	503						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CTTTTGACCCGGTCCCAAACC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	75	74			NA	NA	13		NA											NA				88329152		2203	4300	6503	SO:0001819	synonymous_variant			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300	26050	26050			20295	protein-coding gene	gene with protein product		609680	leucine rich repeat containing 11	LRRC11	NA	10048485, 14557068	Standard		NM_015567	NA	Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1509G>A	13.37:g.88329152G>A		NA	B3KNB8|Q5VT81	37	CCDS9465.1																																																																																			SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045416.3		+	ENST00000325089.6	Silent	SNP	13 : 88329152 - 88329152 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	504	86
OR10P1	121130	broad.mit.edu	37	12	56031342	56031342	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56031342C>A	ENST00000309675.2	+	1	699	c.667C>A	c.(667-669)Ctg>Atg	p.L223M		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						CATCCGCATCCTGGGTGCCAT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	104	110			NA	NA	12		NA											NA				56031342		2203	4300	6503	SO:0001583	missense			BK004259	CCDS31828.1	12q13.13	2012-08-09		2004-03-10		ENSG00000175398	121130	121130		GPCR / Class A : Olfactory receptors	15378	protein-coding gene	gene with protein product				OR10P1P, OR10P2P, OR10P3P	NA		Standard		NM_206899	NA	Approved	OST701	uc010spq.2	Q8NGE3	OTTHUMG00000169961	ENST00000309675.2:c.667C>A	12.37:g.56031342C>A	ENSP00000308082:p.Leu223Met	NA	B9EGY4	37	CCDS31828.1	.	.	.	.	.	.	.	.	.	.	C	8.657	0.899701	0.17686	.	.	ENSG00000175398	ENST00000309675	T	0.00237	8.47	4.44	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37623	N	0.002009	T	0.00468	0.0015	M	0.86097	2.795	0.25970	N	0.982518	D	0.76494	0.999	D	0.75484	0.986	T	0.44205	-0.9343	10	0.72032	D	0.01	.	3.2804	0.06913	0.1783:0.5524:0.173:0.0963	.	223	Q8NGE3	O10P1_HUMAN	M	223	ENSP00000308082:L223M	ENSP00000308082:L223M	L	+	1	2	OR10P1	54317609	0.000000	0.05858	0.019000	0.16419	0.002000	0.02628	-1.227000	0.02950	0.598000	0.29829	-0.304000	0.09214	CTG	OR10P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406680.1		+	ENST00000309675.2	Missense_Mutation	SNP	12 : 56031342 - 56031342 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	769	141
TTC37	9652	broad.mit.edu	37	5	94818235	94818235	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:94818235A>G	ENST00000358746.2	-	39	4452	c.4154T>C	c.(4153-4155)gTa>gCa	p.V1385A		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1385							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTCTTCAAGTACAGCATCTGG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	173	175			NA	NA	5		NA											NA				94818235		2203	4300	6503	SO:0001583	missense			AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677	9652	9652		Tetratricopeptide (TTC) repeat domain containing	23639	protein-coding gene	gene with protein product		614589	KIAA0372	KIAA0372	NA	9205841	Standard	NM_014639	NM_014639	NA	Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.4154T>C	5.37:g.94818235A>G	ENSP00000351596:p.Val1385Ala	NA	O15077|Q6PJI3	37	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	A	14.01	2.407050	0.42715	.	.	ENSG00000198677	ENST00000358746	T	0.50548	0.74	5.83	4.68	0.58851	Tetratricopeptide-like helical (1);	0.174489	0.49305	N	0.000142	T	0.28499	0.0705	N	0.20986	0.625	0.40485	D	0.980488	B	0.22146	0.065	B	0.16289	0.015	T	0.11991	-1.0565	10	0.02654	T	1	.	11.8182	0.52224	0.9318:0.0:0.0682:0.0	.	1385	Q6PGP7	TTC37_HUMAN	A	1385	ENSP00000351596:V1385A	ENSP00000351596:V1385A	V	-	2	0	TTC37	94843991	0.971000	0.33674	0.692000	0.30179	0.975000	0.68041	5.220000	0.65267	1.045000	0.40225	-0.256000	0.11100	GTA	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000241651.1		-	ENST00000358746.2	Missense_Mutation	SNP	5 : 94818235 - 94818235 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	820	134
USP24	23358	broad.mit.edu	37	1	55620367	55620367	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55620367G>T	ENST00000294383.6	-	13	1530	c.1531C>A	c.(1531-1533)Cat>Aat	p.H511N	USP24_ENST00000407756.1_Missense_Mutation_p.H399N	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	511					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						ACAAACAAATGATTAAGCTGA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	85	87			NA	NA	1		NA											NA				55620367		1824	4079	5903	SO:0001583	missense			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402	23358	23358		Ubiquitin-specific peptidases	12623	protein-coding gene	gene with protein product		610569	ubiquitin specific protease 24		NA	12838346	Standard		NM_015306	NA	Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.1531C>A	1.37:g.55620367G>T	ENSP00000294383:p.His511Asn	NA	Q6ZSY2|Q8N2Y4|Q9NXD1	37	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589352	0.86851	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.78364	-1.17;-1.17	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.86527	0.5954	M	0.68593	2.085	0.52099	D	0.999946	P	0.45126	0.851	P	0.58391	0.838	D	0.85825	0.1388	10	0.54805	T	0.06	.	19.9564	0.97221	0.0:0.0:1.0:0.0	.	399	B7WPF4	.	N	511;399	ENSP00000294383:H511N;ENSP00000385700:H399N	ENSP00000294383:H511N	H	-	1	0	USP24	55392955	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.423000	0.97461	2.708000	0.92522	0.650000	0.86243	CAT	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022275.2		-	ENST00000294383.6	Missense_Mutation	SNP	1 : 55620367 - 55620367 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	142	10
RAD54L	8438	broad.mit.edu	37	1	46739361	46739361	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46739361C>T	ENST00000371975.4	+	14	2226	c.1552C>T	c.(1552-1554)Ctg>Ttg	p.L518L	RAD54L_ENST00000442598.1_Silent_p.L518L	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	518	Helicase C-terminal.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CAAAGTAGTGCTGGTGTCGAA	0.537		NA						Direct reversal of damage;Homologous recombination						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	75	74			NA	NA	1		NA											NA				46739361		2203	4300	6503	SO:0001819	synonymous_variant			X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999	8438	8438			9826	protein-coding gene	gene with protein product		603615	RAD54 (S.cerevisiae)-like		NA	8805304	Standard	NM_003579	NM_003579	NA	Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.1552C>T	1.37:g.46739361C>T		NA	Q5TE31|Q6IUY3	37	CCDS532.1																																																																																			RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021272.1		+	ENST00000371975.4	Silent	SNP	1 : 46739361 - 46739361 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	123	18
CSMD1	64478	broad.mit.edu	37	8	3087562	3087562	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:3087562C>A	ENST00000520002.1	-	28	4903	c.4348G>T	c.(4348-4350)Gct>Tct	p.A1450S	CSMD1_ENST00000537824.1_Splice_Site_p.A1449S|CSMD1_ENST00000539096.1_Splice_Site_p.A1449S|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602557.1_Splice_Site_p.A1450S|CSMD1_ENST00000542608.1_Splice_Site_p.A1449S|CSMD1_ENST00000400186.3_Splice_Site_p.A1450S|CSMD1_ENST00000602723.1_Splice_Site_p.A1450S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1450	Sushi 8.					integral to membrane		p.A1449S(1)|p.A1178S(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGTCTGATACCTATGCATGTA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(2)											89	84	86			NA	NA	8		NA											NA				3087562		1885	4117	6002	SO:0001630	splice_region_variant					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117	64478	64478		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	14026	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 24	608397			NA		Standard	NM_033225	NM_033225	NA	Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.4348+1G>T	8.37:g.3087562C>A		NA	Q0H0J5|Q96QU9|Q96RM4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.2|24.2	4.502771|4.502771	0.85176|0.85176	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.25749|.	1.78;1.78;1.78;1.78;1.78|.	5.96|5.96	5.96|5.96	0.96718|0.96718	Complement control module (1);CUB (1);Sushi/SCR/CCP (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.78078|0.78078	0.4227|0.4227	M|M	0.73753|0.73753	2.245|2.245	0.80722|0.80722	D|D	1|1	D;P;P|.	0.65815|.	0.995;0.735;0.931|.	D;B;P|.	0.73380|.	0.98;0.208;0.872|.	T|T	0.75479|0.75479	-0.3303|-0.3303	9|5	.|.	.|.	.|.	.|.	20.4192|20.4192	0.99033|0.99033	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1450;1450;1450|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	S|I	1450;1450;1312;1449;1449;1449|929	ENSP00000383047:A1450S;ENSP00000430733:A1450S;ENSP00000441462:A1449S;ENSP00000446243:A1449S;ENSP00000441675:A1449S|.	.|.	A|S	-|-	1|2	0|0	CSMD1|CSMD1	3074969|3074969	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.294000|0.294000	0.27393|0.27393	7.634000|7.634000	0.83273|0.83273	2.831000|2.831000	0.97527|0.97527	0.650000|0.650000	0.86243|0.86243	GCT|AGC	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000374500.2	Missense_Mutation	-	ENST00000520002.1	Splice_Site	SNP	8 : 3087562 - 3087562 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	355	55
ZNF124	7678	broad.mit.edu	37	1	247319927	247319927	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247319927G>T	ENST00000340684.6	-	4	949	c.811C>A	c.(811-813)Ctt>Att	p.L271I	ZNF124_ENST00000543802.2_Missense_Mutation_p.L333I|ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000491356.1_Intron	NM_003431.2	NP_003422.2	Q15973	ZN124_HUMAN	zinc finger protein 124	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			TGCTTCCAAAGGGTACTAGCA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	89	89			NA	NA	1		NA											NA				247319927		2203	4300	6503	SO:0001583	missense			S54641	CCDS31089.1, CCDS58067.1, CCDS73057.1	1q44	2013-01-08	2006-06-13		ENSG00000196418	ENSG00000196418	7678	7678		Zinc fingers, C2H2-type, -	12907	protein-coding gene	gene with protein product		194631	zinc finger protein 124 (HZF-16)		NA	7916577	Standard	NM_003431	XM_005273256	NA	Approved	HZF16, HZF-16	uc001icj.1	Q15973	OTTHUMG00000041112	ENST00000340684.6:c.811C>A	1.37:g.247319927G>T	ENSP00000340749:p.Leu271Ile	NA	B3KNP3|Q15974|Q4VAJ7|Q5T2V4	37	CCDS31089.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381254	0.42207	.	.	ENSG00000196418	ENST00000366499;ENST00000340684;ENST00000543802;ENST00000540601	T;T	0.53857	0.6;0.6	0.689	-0.402	0.12404	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.72581	0.3478	M	0.92367	3.3	0.09310	N	1	P;D	0.62365	0.69;0.991	P;D	0.72982	0.484;0.979	T	0.59484	-0.7446	9	0.66056	D	0.02	.	4.9245	0.13887	0.2653:0.0:0.7347:0.0	.	333;271	Q15973;Q15973-4	ZN124_HUMAN;.	I	294;271;277;137	ENSP00000340749:L271I;ENSP00000440365:L277I	ENSP00000340749:L271I	L	-	1	0	ZNF124	245386550	0.177000	0.23109	0.000000	0.03702	0.745000	0.42441	0.673000	0.25203	-0.168000	0.10853	0.306000	0.20318	CTT	ZNF124-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000098573.2		-	ENST00000340684.6	Missense_Mutation	SNP	1 : 247319927 - 247319927 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	325	13
PARD3	56288	broad.mit.edu	37	10	34400149	34400149	+	Missense_Mutation	SNP	G	G	A	rs144433754		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:34400149G>A	ENST00000374789.3	-	25	4344	c.4019C>T	c.(4018-4020)gCg>gTg	p.A1340V	PARD3_ENST00000545693.1_Missense_Mutation_p.A1324V|PARD3_ENST00000374788.3_Missense_Mutation_p.A1337V|PARD3_ENST00000545260.1_Missense_Mutation_p.A1250V|PARD3_ENST00000374794.3_Missense_Mutation_p.A1228V|PARD3_ENST00000374790.3_Missense_Mutation_p.A1280V|PARD3_ENST00000346874.4_Missense_Mutation_p.A1303V|PARD3_ENST00000350537.4_Missense_Mutation_p.A1294V	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1340					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GTTCAGCCTCGCAACCTGAGA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	51	49			NA	NA	10		NA											NA				34400149		2203	4300	6503	SO:0001583	missense			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498	56288	56288			16051	protein-coding gene	gene with protein product	atypical PKC isotype-specific interacting protein, par-3 family cell polarity regulator alpha, protein phosphatase 1, regulatory subunit 118	606745	par-3 (partitioning defective 3, C.elegans) homolog, par-3 partitioning defective 3 homolog (C. elegans)		NA	10934474	Standard	NM_019619	NM_001184790	NA	Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.4019C>T	10.37:g.34400149G>A	ENSP00000363921:p.Ala1340Val	NA	Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	37	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696904	0.48202	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790	T;T;T;T;T;T;T;T	0.17213	2.42;2.32;2.43;2.44;2.35;2.32;2.29;2.38	6.17	6.17	0.99709	.	0.151617	0.64402	D	0.000014	T	0.31796	0.0808	N	0.24115	0.695	0.80722	D	1	D;P;D;D;D;D;D;D	0.89917	1.0;0.535;1.0;1.0;1.0;1.0;1.0;1.0	D;B;D;D;D;D;D;D	0.85130	0.997;0.049;0.997;0.997;0.997;0.997;0.997;0.994	T	0.01266	-1.1401	10	0.38643	T	0.18	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1228;1250;1257;1294;1324;1303;1337;1340	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0	.;.;.;.;.;.;.;PARD3_HUMAN	V	1324;1250;1340;1337;1303;1228;1294;1280	ENSP00000443147:A1324V;ENSP00000440857:A1250V;ENSP00000363921:A1340V;ENSP00000363920:A1337V;ENSP00000340591:A1303V;ENSP00000363926:A1228V;ENSP00000311986:A1294V;ENSP00000363922:A1280V	ENSP00000340591:A1303V	A	-	2	0	PARD3	34440155	1.000000	0.71417	0.370000	0.25965	0.918000	0.54935	7.597000	0.82733	2.941000	0.99782	0.655000	0.94253	GCG	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047527.1		-	ENST00000374789.3	Missense_Mutation	SNP	10 : 34400149 - 34400149 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	397	75
OR6Y1	391112	broad.mit.edu	37	1	158517703	158517703	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158517703A>G	ENST00000302617.3	-	1	192	c.193T>C	c.(193-195)Tac>Cac	p.Y65H		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AAGAAGAAGTACATGGGCTTA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	74	76			NA	NA	1		NA											NA				158517703		2202	4300	6502	SO:0001583	missense			BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532	391112	391112		GPCR / Class A : Olfactory receptors	14823	protein-coding gene	gene with protein product				OR6Y2	NA		Standard	NM_001005189	NM_001005189	NA	Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.193T>C	1.37:g.158517703A>G	ENSP00000304807:p.Tyr65His	NA	Q6IFS0	37	CCDS30899.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.165016	0.78339	.	.	ENSG00000197532	ENST00000302617	T	0.15487	2.42	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38326	N	0.001739	T	0.47544	0.1451	H	0.96633	3.855	0.45777	D	0.998663	D	0.89917	1.0	D	0.68943	0.961	T	0.66268	-0.5966	10	0.87932	D	0	.	13.9452	0.64080	1.0:0.0:0.0:0.0	.	65	Q8NGX8	OR6Y1_HUMAN	H	65	ENSP00000304807:Y65H	ENSP00000304807:Y65H	Y	-	1	0	OR6Y1	156784327	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.948000	0.93006	2.176000	0.68965	0.460000	0.39030	TAC	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051844.1		-	ENST00000302617.3	Missense_Mutation	SNP	1 : 158517703 - 158517703 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	286	65
PHKB	5257	broad.mit.edu	37	16	47703196	47703196	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47703196A>G	ENST00000299167.8	+	26	2523	c.2498A>G	c.(2497-2499)aAc>aGc	p.N833S	PHKB_ENST00000455779.1_Missense_Mutation_p.N826S|PHKB_ENST00000323584.5_Missense_Mutation_p.N833S|PHKB_ENST00000566044.1_Missense_Mutation_p.N826S			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	833					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GTGATTCAAAACATCATCTAT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	111	114			NA	NA	16		NA											NA				47703196		2201	4300	6501	SO:0001583	missense				CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	5257	5257	2.7.11.19		8927	protein-coding gene	gene with protein product		172490			NA		Standard		NM_000293	NA	Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000299167.8:c.2498A>G	16.37:g.47703196A>G	ENSP00000299167:p.Asn833Ser	NA	Q8N4T5	37		.	.	.	.	.	.	.	.	.	.	A	13.27	2.188263	0.38609	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.88741	-2.42;-2.42	6.16	6.16	0.99307	Glycoside hydrolase 15-related (1);	0.206100	0.53938	D	0.000047	D	0.83552	0.5279	L	0.35414	1.06	0.42581	D	0.993217	B;B;B	0.27559	0.181;0.008;0.18	B;B;B	0.29862	0.083;0.016;0.108	T	0.79617	-0.1729	10	0.09843	T	0.71	-24.4208	16.8061	0.85666	1.0:0.0:0.0:0.0	.	74;833;826	B3KVX5;Q93100;Q93100-4	.;KPBB_HUMAN;.	S	826;826;833	ENSP00000414345:N826S;ENSP00000313504:N833S	ENSP00000299167:N826S	N	+	2	0	PHKB	46260697	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.746000	0.62133	2.367000	0.80283	0.528000	0.53228	AAC	PHKB-001	KNOWN	alternative_5_UTR|basic	protein_coding	NA	protein_coding	OTTHUMT00000256767.3		+	ENST00000299167.8	Missense_Mutation	SNP	16 : 47703196 - 47703196 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	528	97
RAD54L	8438	broad.mit.edu	37	1	46714235	46714235	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46714235T>G	ENST00000371975.4	+	2	729	c.55T>G	c.(55-57)Tcc>Gcc	p.S19A	RAD54L_ENST00000442598.1_Missense_Mutation_p.S19A	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	19					meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		TGAAGGCAGGTCCTGTGATGA	0.547		NA						Direct reversal of damage;Homologous recombination						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	69	68			NA	NA	1		NA											NA				46714235		2203	4300	6503	SO:0001583	missense			X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999	8438	8438			9826	protein-coding gene	gene with protein product		603615	RAD54 (S.cerevisiae)-like		NA	8805304	Standard	NM_003579	NM_003579	NA	Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.55T>G	1.37:g.46714235T>G	ENSP00000361043:p.Ser19Ala	NA	Q5TE31|Q6IUY3	37	CCDS532.1	.	.	.	.	.	.	.	.	.	.	T	4.225	0.040707	0.08196	.	.	ENSG00000085999	ENST00000442598;ENST00000371975	D;D	0.88277	-2.36;-2.36	5.69	-3.48	0.04739	.	1.052970	0.07322	N	0.877717	T	0.71307	0.3324	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.60021	-0.7344	10	0.08179	T	0.78	1.6501	6.677	0.23100	0.0:0.1292:0.3674:0.5034	.	19	Q92698	RAD54_HUMAN	A	19	ENSP00000396113:S19A;ENSP00000361043:S19A	ENSP00000361043:S19A	S	+	1	0	RAD54L	46486822	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.654000	0.05354	-0.283000	0.09115	0.533000	0.62120	TCC	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021272.1		+	ENST00000371975.4	Missense_Mutation	SNP	1 : 46714235 - 46714235 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	221	24
FATE1	89885	broad.mit.edu	37	X	150889958	150889958	+	Missense_Mutation	SNP	G	G	A	rs138889158	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:150889958G>A	ENST00000370350.3	+	3	411	c.326G>A	c.(325-327)cGt>cAt	p.R109H		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	109						endoplasmic reticulum|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CAAGGCATACGTTTCCATTAT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	1,3834		0,1,0,1631,571	95	75	82		326	-1	0	X	dbSNP_134	82	2,6726		0,1,1,2427,1871	yes	missense	FATE1	NM_033085.2	29	0,2,1,4058,2442	AA,AG,A,GG,G	NA	0.0297,0.0261,0.0284	probably-damaging	109/184	150889958	3,10560	2203	4300	6503	SO:0001583	missense			AF249872	CCDS14700.1	Xq28	2009-03-25			ENSG00000147378	ENSG00000147378	89885	89885			24683	protein-coding gene	gene with protein product	cancer/testis antigen 43	300450			NA	11694338	Standard	NM_033085	NM_033085	NA	Approved	FATE, CT43	uc004fex.3	Q969F0	OTTHUMG00000024172	ENST00000370350.3:c.326G>A	X.37:g.150889958G>A	ENSP00000359375:p.Arg109His	NA		37	CCDS14700.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344934	0.41498	2.61E-4	2.97E-4	ENSG00000147378	ENST00000370350	T	0.50548	0.74	3.86	-0.981	0.10269	.	1.771650	0.03809	N	0.265624	T	0.32406	0.0828	L	0.34521	1.04	0.09310	N	1	P	0.44627	0.839	B	0.32762	0.152	T	0.36432	-0.9748	10	0.56958	D	0.05	-1.8615	7.3918	0.26913	0.6058:0.0:0.3942:0.0	.	109	Q969F0	FATE1_HUMAN	H	109	ENSP00000359375:R109H	ENSP00000359375:R109H	R	+	2	0	FATE1	150640614	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.331000	0.19733	-0.382000	0.07870	0.483000	0.47432	CGT	FATE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060885.1		+	ENST00000370350.3	Missense_Mutation	SNP	X : 150889958 - 150889958 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	235	78
SHOX2	6474	broad.mit.edu	37	3	157816011	157816011	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157816011G>A	ENST00000490689.2	-	5	1911	c.378C>T	c.(376-378)caC>caT	p.H126H	SHOX2_ENST00000389589.4_Silent_p.H291H|SHOX2_ENST00000441443.2_Silent_p.H126H|SHOX2_ENST00000425436.3_Silent_p.H267H|SHOX2_ENST00000483851.2_Silent_p.H255H			O60902	SHOX2_HUMAN	short stature homeobox 2	267					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GCGCGGCCAGGTGCGGATGCA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	64	63			NA	NA	3		NA											NA				157816011		2203	4298	6501	SO:0001819	synonymous_variant			AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779	6474	6474		Homeoboxes / PRD class	10854	protein-coding gene	gene with protein product		602504			NA	9482898, 9466998	Standard		NM_006884	NA	Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000490689.2:c.378C>T	3.37:g.157816011G>A		NA	O60465|O60467|O60903	37		.	.	.	.	.	.	.	.	.	.	G	17.72	3.459875	0.63401	.	.	ENSG00000168779	ENST00000555977	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	T	0.73705	0.3621	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72693	-0.4216	4	.	.	.	.	17.6754	0.88229	0.0:0.0:1.0:0.0	.	.	.	.	I	158	.	.	T	-	2	0	SHOX2	159298705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.310000	0.78947	2.527000	0.85204	0.655000	0.94253	ACC	SHOX2-004	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000352059.3		-	ENST00000490689.2	Silent	SNP	3 : 157816011 - 157816011 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	768	132
SRD5A3	79644	broad.mit.edu	37	4	56236230	56236230	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56236230G>T	ENST00000264228.4	+	5	1157	c.929G>T	c.(928-930)aGg>aTg	p.R310M	SRD5A3-AS1_ENST00000596312.1_RNA|SRD5A3-AS1_ENST00000609051.1_RNA|SRD5A3-AS1_ENST00000609700.1_RNA|SRD5A3-AS1_ENST00000608086.1_RNA|SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3-AS1_ENST00000595734.1_RNA|SRD5A3-AS1_ENST00000609580.1_RNA|SRD5A3-AS1_ENST00000609573.1_RNA|SRD5A3-AS1_ENST00000609487.1_RNA|SRD5A3-AS1_ENST00000433175.2_RNA|SRD5A3-AS1_ENST00000510637.1_RNA|SRD5A3-AS1_ENST00000608265.1_RNA|SRD5A3-AS1_ENST00000596289.1_RNA|SRD5A3-AS1_ENST00000609500.1_RNA|SRD5A3-AS1_ENST00000608558.1_RNA|SRD5A3-AS1_ENST00000598906.1_RNA	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	310					androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			CCGAAGCATAGGAAAGCTTTC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	125	126			NA	NA	4		NA											NA				56236230		2203	4300	6503	SO:0001583	missense			AK023414	CCDS3498.1	4q12	2009-07-21			ENSG00000128039	ENSG00000128039	79644	79644			25812	protein-coding gene	gene with protein product		611715			NA	17986282	Standard	NM_024592	NM_024592	NA	Approved	FLJ13352, SRD5A2L, SRD5A2L1	uc003hau.3	Q9H8P0	OTTHUMG00000128733	ENST00000264228.4:c.929G>T	4.37:g.56236230G>T	ENSP00000264228:p.Arg310Met	NA	Q4W5Q6	37	CCDS3498.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.568963	0.65765	.	.	ENSG00000128039	ENST00000264228;ENST00000505210	T;T	0.61158	0.13;0.13	5.69	5.69	0.88448	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84768	0.5545	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89071	0.3469	10	0.87932	D	0	-25.3173	19.8051	0.96529	0.0:0.0:1.0:0.0	.	310	Q9H8P0	PORED_HUMAN	M	310;174	ENSP00000264228:R310M;ENSP00000424714:R174M	ENSP00000264228:R310M	R	+	2	0	SRD5A3	55930987	1.000000	0.71417	1.000000	0.80357	0.071000	0.16799	9.624000	0.98398	2.702000	0.92279	0.591000	0.81541	AGG	SRD5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250644.2		+	ENST00000264228.4	Missense_Mutation	SNP	4 : 56236230 - 56236230 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	833	158
TMCO4	255104	broad.mit.edu	37	1	20063940	20063940	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20063940G>T	ENST00000294543.6	-	13	1430	c.1189C>A	c.(1189-1191)Cct>Act	p.P397T	TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375127.1_Missense_Mutation_p.P397T|TMCO4_ENST00000375122.2_Missense_Mutation_p.P357T	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	397						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		AAGGTGACAGGTCGTCGCCCC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	88	90			NA	NA	1		NA											NA				20063940		2203	4300	6503	SO:0001583	missense				CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542	255104	255104			27393	protein-coding gene	gene with protein product					NA		Standard	NM_181719	NM_181719	NA	Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1189C>A	1.37:g.20063940G>T	ENSP00000294543:p.Pro397Thr	NA	Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	37	CCDS198.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314938	0.81358	.	.	ENSG00000162542	ENST00000294543;ENST00000375127;ENST00000375122	T;T;T	0.61040	0.14;0.14;0.14	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.82848	0.5126	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87410	0.2375	10	0.87932	D	0	-10.5998	16.9883	0.86346	0.0:0.0:1.0:0.0	.	397	Q5TGY1	TMCO4_HUMAN	T	397;397;357	ENSP00000294543:P397T;ENSP00000364269:P397T;ENSP00000364264:P357T	ENSP00000294543:P397T	P	-	1	0	TMCO4	19936527	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	8.868000	0.92320	2.689000	0.91719	0.655000	0.94253	CCT	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007658.1		-	ENST00000294543.6	Missense_Mutation	SNP	1 : 20063940 - 20063940 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	420	71
OTUD7B	56957	broad.mit.edu	37	1	149939346	149939346	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149939346C>A	ENST00000369135.4	-	4	669	c.375G>T	c.(373-375)gaG>gaT	p.E125D	OTUD7B_ENST00000479905.1_Intron	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	NA					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CCAGGGGGTGCTCATTGCTCC	0.557		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				149939346		1965	4153	6118	SO:0001583	missense			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522	56957	56957		OTU domain containing	16683	protein-coding gene	gene with protein product		611748	zinc finger, A20 domain containing 1, OTU domain containing 7B	ZA20D1	NA	11463333, 23827681	Standard	NM_020205	NM_020205	NA	Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.375G>T	1.37:g.149939346C>A	ENSP00000358131:p.Glu125Asp	NA	D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	37	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.886581	0.72410	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.32753	1.44;1.48	5.14	4.21	0.49690	.	0.395933	0.29165	N	0.012952	T	0.20251	0.0487	L	0.51422	1.61	0.53005	D	0.999968	P	0.38992	0.653	B	0.41764	0.366	T	0.01516	-1.1335	9	.	.	.	-11.7346	13.3302	0.60483	0.0:0.922:0.0:0.078	.	125	Q6GQQ9	OTU7B_HUMAN	D	125	ENSP00000358131:E125D;ENSP00000408231:E125D	.	E	-	3	2	OTUD7B	148205970	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.341000	0.33907	2.672000	0.90937	0.557000	0.71058	GAG	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034146.3		-	ENST00000369135.4	Missense_Mutation	SNP	1 : 149939346 - 149939346 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	397	69
MLLT4	4301	broad.mit.edu	37	6	168352003	168352003	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168352003C>A	ENST00000400822.3	+	29	3945	c.3945C>A	c.(3943-3945)acC>acA	p.T1315T	MLLT4_ENST00000392108.3_Silent_p.T1316T|MLLT4_ENST00000344191.4_Silent_p.T1316T|MLLT4_ENST00000392112.1_Silent_p.T1299T|MLLT4_ENST00000351017.4_Silent_p.T1323T|MLLT4_ENST00000366806.2_Silent_p.T1316T|MLLT4_ENST00000447894.2_Silent_p.T1316T			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1316					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		ACTCCAGTACCTCTAGCCAGG	0.512		NA	T	MLL	AL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		6	6q27	4301	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)		L	0													92	102	99			NA	NA	6		NA											NA				168352003		2203	4300	6503	SO:0001819	synonymous_variant			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396	4301	4301			7137	protein-coding gene	gene with protein product		159559	myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4		NA	8242616	Standard	NM_005936	NM_001040000	NA	Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000400822.3:c.3945C>A	6.37:g.168352003C>A		NA	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	37																																																																																				MLLT4-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000043150.2		+	ENST00000400822.3	Silent	SNP	6 : 168352003 - 168352003 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	449	111
ST5	6764	broad.mit.edu	37	11	8734225	8734225	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8734225C>T	ENST00000526099.1	-	6	686	c.584G>A	c.(583-585)cGc>cAc	p.R195H	ST5_ENST00000530991.1_Missense_Mutation_p.R154H|ST5_ENST00000357665.1_Missense_Mutation_p.R682H|ST5_ENST00000534127.1_Missense_Mutation_p.R682H|ST5_ENST00000526757.1_Missense_Mutation_p.R262H|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530438.1_Missense_Mutation_p.R262H|ST5_ENST00000313726.6_Missense_Mutation_p.R682H			P78524	ST5_HUMAN	suppression of tumorigenicity 5	682					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CTCCAGCGTGCGATAGCTGGG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	39	41			NA	NA	11		NA											NA				8734225		2200	4296	6496	SO:0001583	missense			U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444	6764	6764		DENN/MADD domain containing	11350	protein-coding gene	gene with protein product	DENN/MADD domain containing 2B	140750			NA	1390339	Standard	NM_005418	NM_005418	NA	Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000526099.1:c.584G>A	11.37:g.8734225C>T	ENSP00000436808:p.Arg195His	NA	B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	37		.	.	.	.	.	.	.	.	.	.	C	18.32	3.597627	0.66332	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000530438;ENST00000533020;ENST00000447053;ENST00000530593;ENST00000528527	T;T;T;T;T;T;T;T;T;T	0.34072	2.91;2.91;2.91;2.91;2.91;2.91;2.91;2.91;1.38;2.91	5.28	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.27798	0.0684	L	0.36672	1.1	0.53688	D	0.999971	B;B;B	0.23442	0.012;0.085;0.069	B;B;B	0.17979	0.005;0.02;0.016	T	0.09465	-1.0673	10	0.54805	T	0.06	-12.5329	10.5888	0.45298	0.0:0.8518:0.0:0.1482	.	195;262;682	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	H	262;682;682;154;682;195;262;154;292;139;154	ENSP00000435097:R262H;ENSP00000433528:R682H;ENSP00000319678:R682H;ENSP00000432887:R154H;ENSP00000350294:R682H;ENSP00000436808:R195H;ENSP00000436802:R262H;ENSP00000433588:R154H;ENSP00000437096:R139H;ENSP00000431580:R154H	ENSP00000319678:R682H	R	-	2	0	ST5	8690801	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	4.689000	0.61723	2.467000	0.83353	0.655000	0.94253	CGC	ST5-009	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000386522.1		-	ENST00000526099.1	Missense_Mutation	SNP	11 : 8734225 - 8734225 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	88	11
MCM6	4175	broad.mit.edu	37	2	136627930	136627930	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136627930C>T	ENST00000264156.2	-	3	316	c.256G>A	c.(256-258)Gtt>Att	p.V86I		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	86					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)	TAAGGGTAAACTCTGAAAAAC	0.433		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													113	122	119			NA	NA	2		NA											NA				136627930		2203	4300	6503	SO:0001630	splice_region_variant				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.255-1G>A	2.37:g.136627930C>T		NA	B2R6H2|Q13504|Q99859	37	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.089667	0.55968	.	.	ENSG00000076003	ENST00000264156	T	0.11169	2.8	5.5	5.5	0.81552	Nucleic acid-binding, OB-fold-like (1);	0.055393	0.64402	D	0.000001	T	0.14013	0.0339	L	0.49513	1.565	0.80722	D	1	B	0.17852	0.024	B	0.20767	0.031	T	0.09079	-1.0691	10	0.21014	T	0.42	-21.2407	19.3903	0.94578	0.0:1.0:0.0:0.0	.	86	Q14566	MCM6_HUMAN	I	86	ENSP00000264156:V86I	ENSP00000264156:V86I	V	-	1	0	MCM6	136344400	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	4.859000	0.62954	2.578000	0.87016	0.650000	0.86243	GTT	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254658.1	Missense_Mutation	-	ENST00000264156.2	Splice_Site	SNP	2 : 136627930 - 136627930 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	792	225
ATM	472	broad.mit.edu	37	11	108225552	108225552	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108225552C>T	ENST00000452508.2	+	62	8990	c.8801C>T	c.(8800-8802)aCc>aTc	p.T2934I	ATM_ENST00000278616.4_Missense_Mutation_p.T2934I|C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000525178.1_3'UTR			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2934	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGTGAGAAAACCATGGAAGTG	0.338		NA	D, Mis, N, F, S		T-PLL	leukemia, lymphoma, medulloblastoma, glioma		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		L, O	0													186	195	192			NA	NA	11		NA											NA				108225552		2201	4298	6499	SO:0001583	missense	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311	472	472			795	protein-coding gene	gene with protein product	TEL1, telomere maintenance 1, homolog (S. cerevisiae)	607585	ataxia telangiectasia mutated (includes complementation groups A, C and D), ataxia telangiectasia mutated	ATA, ATDC, ATC, ATD	NA		Standard	NM_000051	XM_005271561	NA	Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8801C>T	11.37:g.108225552C>T	ENSP00000388058:p.Thr2934Ile	NA	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.033991	0.93575	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.73363	-0.74;-0.74	5.72	5.72	0.89469	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.87184	0.6114	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86991	0.2110	10	0.54805	T	0.06	.	19.8745	0.96864	0.0:1.0:0.0:0.0	.	2934	Q13315	ATM_HUMAN	I	2934	ENSP00000278616:T2934I;ENSP00000388058:T2934I	ENSP00000278616:T2934I	T	+	2	0	ATM	107730762	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.789000	0.85783	2.704000	0.92352	0.467000	0.42956	ACC	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389938.1		+	ENST00000452508.2	Missense_Mutation	SNP	11 : 108225552 - 108225552 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	715	107
ACVR1B	91	broad.mit.edu	37	12	52380666	52380666	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52380666G>A	ENST00000542485.1	+	7	1230	c.1045G>A	c.(1045-1047)Gct>Act	p.A349T	ACVR1B_ENST00000426655.2_Missense_Mutation_p.A401T|ACVR1B_ENST00000563121.1_Intron|ACVR1B_ENST00000415850.2_Missense_Mutation_p.A401T|ACVR1B_ENST00000257963.4_Missense_Mutation_p.A401T|ACVR1B_ENST00000541224.1_Missense_Mutation_p.A442T	NM_020327.3	NP_064732.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	401	Protein kinase.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	CTTTAAATGTGCTGATATTTA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	125	127			NA	NA	12		NA											NA				52380666		2203	4300	6503	SO:0001583	missense				CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503	91	91			172	protein-coding gene	gene with protein product		601300		ACVRLK4	NA	8397373	Standard	NM_020328	NM_020327	NA	Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000542485.1:c.1045G>A	12.37:g.52380666G>A	ENSP00000442885:p.Ala349Thr	NA	Q15479|Q15480|Q15481|Q15482	37	CCDS44893.2	.	.	.	.	.	.	.	.	.	.	G	29.9	5.044077	0.93685	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000415850;ENST00000542485	D;D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26;-3.26	4.77	4.77	0.60923	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95564	0.8558	L	0.55834	1.745	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.996	D;D;D;D	0.78314	0.982;0.982;0.991;0.914	D	0.94589	0.7786	10	0.38643	T	0.18	.	18.3723	0.90411	0.0:0.0:1.0:0.0	.	442;401;401;401	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	T	401;442;401;401;349	ENSP00000257963:A401T;ENSP00000442656:A442T;ENSP00000390477:A401T;ENSP00000397550:A401T;ENSP00000442885:A349T	ENSP00000257963:A401T	A	+	1	0	ACVR1B	50666933	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.668000	0.90789	0.563000	0.77884	GCT	ACVR1B-001	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397005.1		+	ENST00000542485.1	Missense_Mutation	SNP	12 : 52380666 - 52380666 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	521	93
FIBCD1	84929	broad.mit.edu	37	9	133779547	133779547	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133779547G>T	ENST00000372338.4	-	7	1532	c.1290C>A	c.(1288-1290)tcC>tcA	p.S430S	FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000372337.2_Silent_p.S272S|FIBCD1_ENST00000448616.1_Silent_p.S430S	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	430	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CGTCGGCATAGGAGGCGTGCG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	103	108			NA	NA	9		NA											NA				133779547		2203	4300	6503	SO:0001819	synonymous_variant			AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720	84929	84929		Fibrinogen C domain containing	25922	protein-coding gene	gene with protein product		613357			NA	12975309	Standard	NM_032843	NM_001145106	NA	Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.1290C>A	9.37:g.133779547G>T		NA	A3KFK0|Q6UXK6|Q96SJ7	37	CCDS6937.1																																																																																			FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054687.2		-	ENST00000372338.4	Silent	SNP	9 : 133779547 - 133779547 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	782	156
KIAA1715	80856	broad.mit.edu	37	2	176844565	176844565	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176844565A>C	ENST00000272748.4	-	5	536	c.289T>G	c.(289-291)Ttc>Gtc	p.F97V	KIAA1715_ENST00000535310.1_Missense_Mutation_p.F22V|KIAA1715_ENST00000544803.1_Missense_Mutation_p.F97V	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	97						integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			TTGGAAAAGAAGAAAATAATT	0.274		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	23	23			NA	NA	2		NA											NA				176844565		2174	4271	6445	SO:0001583	missense			AB051502	CCDS33332.1	2q31	2014-06-27			ENSG00000144320	ENSG00000144320	80856	80856			21610	protein-coding gene	gene with protein product	lunapark, limb and neural patterns	610236			NA	11214970, 22729086	Standard	XM_042834	NM_030650	NA	Approved	ulnaless, Ul, LNP1, LNP	uc002ukc.1	Q9C0E8	OTTHUMG00000154112	ENST00000272748.4:c.289T>G	2.37:g.176844565A>C	ENSP00000272748:p.Phe97Val	NA	Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	37	CCDS33332.1	.	.	.	.	.	.	.	.	.	.	A	13.98	2.398115	0.42512	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000544803;ENST00000535310;ENST00000392540	.	.	.	5.31	4.12	0.48240	.	0.250174	0.43416	D	0.000579	T	0.48642	0.1511	L	0.55481	1.735	0.44652	D	0.997638	P;B;D;B	0.54601	0.898;0.284;0.967;0.212	B;B;B;B	0.43950	0.429;0.059;0.437;0.048	T	0.51482	-0.8700	9	0.87932	D	0	-2.4999	9.3517	0.38142	0.8403:0.0:0.0:0.1597	.	99;97;94;97	F5H2Y7;B7ZLA8;B7ZLA9;Q9C0E8	.;.;.;LNP_HUMAN	V	97;99;97;22;92	.	ENSP00000272748:F97V	F	-	1	0	KIAA1715	176552811	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.229000	0.42990	0.913000	0.36797	0.460000	0.39030	TTC	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333949.3		-	ENST00000272748.4	Missense_Mutation	SNP	2 : 176844565 - 176844565 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	109	18
RAP1GAP	5909	broad.mit.edu	37	1	21928254	21928254	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21928254G>A	ENST00000542643.2	-	22	1955	c.1653C>T	c.(1651-1653)agC>agT	p.S551S	RAP1GAP_ENST00000374765.4_Silent_p.S525S|RAP1GAP_ENST00000290101.4_Silent_p.S589S|RAP1GAP_ENST00000374763.2_Silent_p.S610S|RAP1GAP_ENST00000374761.2_Silent_p.S556S	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	525					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		AGACGTGCCCGCTGTCTGGGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	65	67			NA	NA	1		NA											NA				21928254		2203	4300	6503	SO:0001819	synonymous_variant			BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864	5909	5909			9858	protein-coding gene	gene with protein product		600278	RAP1, GTPase activating protein 1	RAP1GA1	NA	1904317	Standard	NM_002885	NM_001145657	NA	Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000542643.2:c.1653C>T	1.37:g.21928254G>A		NA	O75062|Q5T3S9|Q5T3T4|Q9UQ51	37	CCDS53276.1																																																																																			RAP1GAP-014	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000467225.1		-	ENST00000542643.2	Silent	SNP	1 : 21928254 - 21928254 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	236	38
FGF2	2247	broad.mit.edu	37	4	123813399	123813399	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123813399C>T	ENST00000264498.3	+	3	783	c.715C>T	c.(715-717)Cga>Tga	p.R239*	FGF2_ENST00000608478.1_Nonsense_Mutation_p.R106*|NUDT6_ENST00000608639.1_Intron	NM_002006.4	NP_001997	P09038	FGF2_HUMAN	fibroblast growth factor 2 (basic)	239					activation of MAPK activity|branching involved in ureteric bud morphogenesis|cell migration involved in sprouting angiogenesis|chemotaxis|chondroblast differentiation|embryonic morphogenesis|fibroblast growth factor receptor signaling pathway|inositol phosphate biosynthetic process|insulin receptor signaling pathway|negative regulation of blood vessel endothelial cell migration|negative regulation of cell death|organ morphogenesis|phosphatidylinositol biosynthetic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cardiac muscle cell proliferation|positive regulation of cell division|positive regulation of cell fate specification|positive regulation of ERK1 and ERK2 cascade|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|Ras protein signal transduction|release of sequestered calcium ion into cytosol|wound healing	extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|ligand-dependent nuclear receptor transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	8					Pentosan Polysulfate(DB00686)	CTTTTTTGAACGATTGGAATC	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	105	104			NA	NA	4		NA											NA				123813399		2203	4300	6503	SO:0001587	stop_gained			J04513	CCDS34059.1	4q26	2014-01-30			ENSG00000138685	ENSG00000138685	2247	2247		Endogenous ligands	3676	protein-coding gene	gene with protein product		134920		FGFB	NA	9925931	Standard	NM_002006	NM_002006	NA	Approved		uc003iev.1	P09038	OTTHUMG00000039506	ENST00000264498.3:c.715C>T	4.37:g.123813399C>T	ENSP00000264498:p.Arg239*	NA	A4LBB8|O00527|P78443|Q16443|Q5PY50|Q7KZ11|Q7KZ72|Q9UC54|Q9UCS5|Q9UCS6	37	CCDS34059.1	.	.	.	.	.	.	.	.	.	.	C	36	5.674484	0.96764	.	.	ENSG00000138685	ENST00000264498	.	.	.	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0204	0.97499	0.0:1.0:0.0:0.0	.	.	.	.	X	239	.	ENSP00000264498:R239X	R	+	1	2	FGF2	124032849	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.910000	0.56371	2.729000	0.93468	0.650000	0.86243	CGA	FGF2-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095330.3		+	ENST00000264498.3	Nonsense_Mutation	SNP	4 : 123813399 - 123813399 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	573	82
COL5A3	50509	broad.mit.edu	37	19	10114292	10114292	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10114292C>A	ENST00000264828.3	-	6	883	c.798G>T	c.(796-798)aaG>aaT	p.K266N		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	266	Nonhelical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TTTCCTTGTTCTTTTTCCTGC	0.577		NA									OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													265	196	220			NA	NA	19		NA											NA				10114292		2203	4300	6503	SO:0001583	missense			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573	50509	50509		Collagens	14864	protein-coding gene	gene with protein product		120216			NA	10722718	Standard	NM_015719	NM_015719	NA	Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.798G>T	19.37:g.10114292C>A	ENSP00000264828:p.Lys266Asn	662	Q9NZQ6	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	7.743	0.701652	0.15172	.	.	ENSG00000080573	ENST00000264828	D	0.90069	-2.61	4.08	-0.41	0.12374	.	1.705140	0.03235	N	0.179441	D	0.90480	0.7018	L	0.52573	1.65	0.26607	N	0.972915	D	0.71674	0.998	D	0.73708	0.981	T	0.77156	-0.2691	10	0.18276	T	0.48	.	3.327	0.07071	0.0:0.4355:0.2062:0.3584	.	266	P25940	CO5A3_HUMAN	N	266	ENSP00000264828:K266N	ENSP00000264828:K266N	K	-	3	2	COL5A3	9975292	0.995000	0.38212	0.995000	0.50966	0.530000	0.34684	-0.000000	0.12993	0.132000	0.18615	-0.382000	0.06688	AAG	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000315788.1		-	ENST00000264828.3	Missense_Mutation	SNP	19 : 10114292 - 10114292 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	436	76
EEA1	8411	broad.mit.edu	37	12	93206839	93206839	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:93206839C>A	ENST00000322349.8	-	16	2224	c.1960G>T	c.(1960-1962)Gca>Tca	p.A654S		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	654	Gln/Glu/Lys-rich.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GCTGCTTCTGCTGATAGTAAT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	155	162			NA	NA	12		NA											NA				93206839		2202	4300	6502	SO:0001583	missense			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189	8411	8411		Zinc fingers, FYVE domain containing	3185	protein-coding gene	gene with protein product		605070	early endosome antigen 1, 162kD		NA	7768953, 9697774	Standard	NM_003566	NM_003566	NA	Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.1960G>T	12.37:g.93206839C>A	ENSP00000317955:p.Ala654Ser	NA	Q14221	37	CCDS31874.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.202315|5.202315	0.94997|0.94997	.|.	.|.	ENSG00000102189|ENSG00000102189	ENST00000322349|ENST00000549790	T|.	0.44881|.	0.91|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.000000|.	0.47852|.	U|.	0.000202|.	T|T	0.62744|0.62744	0.2453|0.2453	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.75020|.	0.985|.	T|T	0.66324|0.66324	-0.5952|-0.5952	10|6	0.09084|0.87932	T|D	0.74|0	.|.	18.4977|18.4977	0.90870|0.90870	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	654|.	Q15075|.	EEA1_HUMAN|.	S|H	654|23	ENSP00000317955:A654S|.	ENSP00000317955:A654S|ENSP00000446785:Q23H	A|Q	-|-	1|3	0|2	EEA1|EEA1	91730970|91730970	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	7.547000|7.547000	0.82146|0.82146	2.465000|2.465000	0.83290|0.83290	0.563000|0.563000	0.77884|0.77884	GCA|CAG	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407304.1		-	ENST00000322349.8	Missense_Mutation	SNP	12 : 93206839 - 93206839 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	458	46
CYP2A13	1553	broad.mit.edu	37	19	41601664	41601664	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41601664G>T	ENST00000330436.3	+	9	1303		c.e9-1			NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	NA					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	CTCCTCCTCAGGAAAGCGGTA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	103	105			NA	NA	19		NA											NA				41601664		2203	4300	6503	SO:0001630	splice_region_variant			U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838	1553	1553		Cytochrome P450s	2608	protein-coding gene	gene with protein product		608055	cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13		NA	7668294, 15128046	Standard	NM_000766	NM_000766	NA	Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.1304-1G>T	19.37:g.41601664G>T		NA	Q53YR8|Q6R569|Q6R570|Q9H2X2	37	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	19.48	3.835690	0.71373	.	.	ENSG00000197838	ENST00000330436	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7296	0.62779	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYP2A13	46293504	1.000000	0.71417	0.979000	0.43373	0.915000	0.54546	9.187000	0.94912	2.229000	0.72834	0.574000	0.79327	.	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463505.1	Intron	+	ENST00000330436.3	Splice_Site	SNP	19 : 41601664 - 41601664 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	578	93
ZNF45	7596	broad.mit.edu	37	19	44418337	44418337	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44418337C>T	ENST00000269973.5	-	10	2341	c.1251G>A	c.(1249-1251)caG>caA	p.Q417Q	ZNF45_ENST00000589703.1_Silent_p.Q417Q|RP11-15A1.2_ENST00000586247.1_RNA	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	417					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						ATGCATCACACTGATACGGTT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	85	86			NA	NA	19		NA											NA				44418337		2203	4300	6503	SO:0001819	synonymous_variant			M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459	7596	7596		Zinc fingers, C2H2-type, -	13111	protein-coding gene	gene with protein product		194554	zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide), zinc finger protein 13	ZNF13	NA	9067431	Standard	NM_003425	NM_003425	NA	Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.1251G>A	19.37:g.44418337C>T		NA	P17016|P78472|Q9P1U9	37	CCDS12632.1																																																																																			ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459919.1		-	ENST00000269973.5	Silent	SNP	19 : 44418337 - 44418337 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	524	88
CTNNA2	1496	broad.mit.edu	37	2	80085159	80085159	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80085159T>G	ENST00000402739.4	+	3	324	c.319T>G	c.(319-321)Tcc>Gcc	p.S107A	CTNNA2_ENST00000541047.1_Missense_Mutation_p.S107A|CTNNA2_ENST00000540488.1_Missense_Mutation_p.S107A|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S141A|CTNNA2_ENST00000466387.1_Missense_Mutation_p.S107A|CTNNA2_ENST00000496558.1_Missense_Mutation_p.S107A	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	107					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCGGATCGCCTCCTCCGAGTT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	94	95			NA	NA	2		NA											NA				80085159		2051	4191	6242	SO:0001583	missense				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032	1496	1496			2510	protein-coding gene	gene with protein product	cadherin-associated protein, related, cancer/testis antigen 114	114025			NA	8432524	Standard	NM_004389	NM_004389	NA	Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.319T>G	2.37:g.80085159T>G	ENSP00000384638:p.Ser107Ala	NA	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	37		.	.	.	.	.	.	.	.	.	.	T	8.425	0.847206	0.17034	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000409971;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39;1.39	5.67	5.67	0.87782	.	0.065157	0.64402	N	0.000005	T	0.21022	0.0506	N	0.16166	0.38	0.51767	D	0.999934	B;B;B	0.13594	0.008;0.001;0.004	B;B;B	0.15484	0.013;0.005;0.008	T	0.08617	-1.0713	10	0.02654	T	1	.	15.9204	0.79562	0.0:0.0:0.0:1.0	.	107;107;107	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	A	107;107;107;141;107;107;107	ENSP00000418191:S107A;ENSP00000419295:S107A;ENSP00000387073:S107A;ENSP00000355398:S141A;ENSP00000384638:S107A;ENSP00000444675:S107A;ENSP00000441705:S107A	ENSP00000355398:S141A	S	+	1	0	CTNNA2	79938667	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	6.186000	0.72026	2.164000	0.68074	0.533000	0.62120	TCC	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000328511.4		+	ENST00000402739.4	Missense_Mutation	SNP	2 : 80085159 - 80085159 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	569	92
DHCR7	1717	broad.mit.edu	37	11	71148891	71148891	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71148891G>T	ENST00000355527.3	-	8	1206	c.930C>A	c.(928-930)gaC>gaA	p.D310E	DHCR7_ENST00000407721.2_Missense_Mutation_p.D310E	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	310					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	GCCAGACACAGTCGCCCCAGC	0.557		NA							Smith-Lemli-Opitz syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	79	81			NA	NA	11		NA											NA				71148891		2200	4294	6494	SO:0001583	missense	Familial Cancer Database	SLOS type I & II	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1717	1717	1.3.1.21		2860	protein-coding gene	gene with protein product		602858	Smith-Lemli-Opitz syndrome	SLOS	NA	9465114, 9634533	Standard	NM_001360	NM_001360	NA	Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.930C>A	11.37:g.71148891G>T	ENSP00000347717:p.Asp310Glu	NA	O60492|O60717	37	CCDS8200.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.040308|4.040308	0.75732|0.75732	.|.	.|.	ENSG00000172893|ENSG00000172893	ENST00000407721;ENST00000355527;ENST00000533800;ENST00000525137|ENST00000534795	D;D;D;D|.	0.98381|.	-4.9;-4.9;-4.9;-4.9|.	4.57|4.57	2.67|2.67	0.31697|0.31697	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76004|0.76004	0.3927|0.3927	M|M	0.91300|0.91300	3.195|3.195	0.51012|0.51012	D|D	0.999908|0.999908	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.74262|0.74262	-0.3722|-0.3722	10|5	0.52906|.	T|.	0.07|.	-43.5291|-43.5291	6.1902|6.1902	0.20520|0.20520	0.328:0.0:0.672:0.0|0.328:0.0:0.672:0.0	.|.	310|.	Q9UBM7|.	DHCR7_HUMAN|.	E|M	310;310;60;99|96	ENSP00000384739:D310E;ENSP00000347717:D310E;ENSP00000435011:D60E;ENSP00000435956:D99E|.	ENSP00000347717:D310E|.	D|L	-|-	3|1	2|2	DHCR7|DHCR7	70826539|70826539	1.000000|1.000000	0.71417|0.71417	0.963000|0.963000	0.40424|0.40424	0.767000|0.767000	0.43475|0.43475	2.734000|2.734000	0.47368|0.47368	0.360000|0.360000	0.24265|0.24265	0.561000|0.561000	0.74099|0.74099	GAC|CTG	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394243.1		-	ENST00000355527.3	Missense_Mutation	SNP	11 : 71148891 - 71148891 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	391	31
RECQL	5965	broad.mit.edu	37	12	21644468	21644468	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21644468C>T	ENST00000444129.2	-	3	667	c.199G>A	c.(199-201)Gct>Act	p.A67T	RECQL_ENST00000421138.2_Missense_Mutation_p.A67T	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	67					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TTATTCCAAGCGGCAGGTGAA	0.323		NA						Other identified genes with known or suspected DNA repair function						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700	5965	5965			9948	protein-coding gene	gene with protein product	DNA helicase Q1-like	600537	RecQ protein-like (DNA helicase Q1-like)		NA	7527136, 7961977	Standard	NM_002907	NM_002907	NA	Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.199G>A	12.37:g.21644468C>T	ENSP00000416739:p.Ala67Thr	NA	A8K6G2	37	CCDS31756.1	.	.	.	.	.	.	.	.	.	.	C	6.578	0.475014	0.12521	.	.	ENSG00000004700	ENST00000444129;ENST00000421138;ENST00000396093;ENST00000314748;ENST00000542432;ENST00000536240;ENST00000536964;ENST00000539672	T;T;T;T;T;T	0.76448	-1.02;-1.02;0.75;0.75;-0.05;0.94	4.45	-1.07	0.09968	.	0.791130	0.11811	N	0.527132	T	0.65739	0.2720	L	0.57536	1.79	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.47522	-0.9111	10	0.14252	T	0.57	-12.6805	4.7242	0.12933	0.2271:0.4814:0.0:0.2915	.	67	P46063	RECQ1_HUMAN	T	67	ENSP00000416739:A67T;ENSP00000395449:A67T;ENSP00000379400:A67T;ENSP00000318727:A67T;ENSP00000445555:A67T;ENSP00000439069:A67T	ENSP00000318727:A67T	A	-	1	0	RECQL	21535735	0.001000	0.12720	0.341000	0.25589	0.987000	0.75469	0.075000	0.14686	-0.086000	0.12550	0.655000	0.94253	GCT	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402371.1		-	ENST00000444129.2	Missense_Mutation	SNP	12 : 21644468 - 21644468 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	255	48
ASIC4	55515	broad.mit.edu	37	2	220379912	220379912	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220379912C>T	ENST00000358078.4	+	1	861	c.847C>T	c.(847-849)Cgc>Tgc	p.R283C	ASIC4_ENST00000347842.3_Missense_Mutation_p.R283C|AC053503.11_ENST00000429882.1_RNA			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	283						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity				NA						GGCTGGCCTGCGCTACCCAGA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	48	51			NA	NA	2		NA											NA				220379912		2203	4299	6502	SO:0001583	missense			AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182	55515	55515		Ion channels / Acid-sensing (proton-gated) ion channels	21263	protein-coding gene	gene with protein product		606715	amiloride-sensitive cation channel 4, pituitary, amiloride-sensitive cation channel family member 4, pituitary	ACCN4	NA	10852210	Standard	NM_018674	NM_182847	NA	Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000358078.4:c.847C>T	2.37:g.220379912C>T	ENSP00000350786:p.Arg283Cys	NA	Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	37		.	.	.	.	.	.	.	.	.	.	C	19.40	3.819936	0.71028	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.65364	-0.15;-0.15	4.52	3.64	0.41730	.	0.627114	0.14692	N	0.304087	T	0.69450	0.3112	L	0.39245	1.2	0.47245	D	0.999361	D;D;D	0.76494	0.997;0.999;0.992	P;D;P	0.65987	0.827;0.94;0.681	T	0.69327	-0.5174	10	0.66056	D	0.02	-21.738	12.1941	0.54288	0.0:0.9159:0.0:0.084	.	283;283;283	Q96FT7;Q96FT7-4;Q96FT7-2	ACCN4_HUMAN;.;.	C	283	ENSP00000326627:R283C;ENSP00000350786:R283C	ENSP00000326627:R283C	R	+	1	0	ACCN4	220088156	1.000000	0.71417	0.992000	0.48379	0.988000	0.76386	2.003000	0.40844	1.119000	0.41883	0.655000	0.94253	CGC	ASIC4-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000130266.1		+	ENST00000358078.4	Missense_Mutation	SNP	2 : 220379912 - 220379912 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	402	67
ZBTB39	9880	broad.mit.edu	37	12	57396934	57396934	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57396934G>T	ENST00000300101.2	-	2	1853	c.1768C>A	c.(1768-1770)Ctg>Atg	p.L590M		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	590					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TCTTCACCCAGAAACTCCTCT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	55	54			NA	NA	12		NA											NA				57396934		2203	4300	6503	SO:0001583	missense			AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860	9880	9880		-, BTB/POZ domain containing, Zinc fingers, C2H2-type	29014	protein-coding gene	gene with protein product					NA	9205841	Standard	NM_014830	NM_014830	NA	Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.1768C>A	12.37:g.57396934G>T	ENSP00000300101:p.Leu590Met	NA	A7MD38|Q9UD98	37	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063297	0.36373	.	.	ENSG00000166860	ENST00000300101	T	0.10860	2.83	5.18	3.37	0.38596	.	0.332649	0.25906	N	0.027539	T	0.10680	0.0261	N	0.19112	0.55	0.25436	N	0.988136	D	0.62365	0.991	P	0.51999	0.687	T	0.07829	-1.0752	10	0.72032	D	0.01	-7.7598	7.0407	0.25019	0.2693:0.0:0.7307:0.0	.	590	O15060	ZBT39_HUMAN	M	590	ENSP00000300101:L590M	ENSP00000300101:L590M	L	-	1	2	ZBTB39	55683201	0.051000	0.20477	1.000000	0.80357	0.984000	0.73092	-0.020000	0.12525	0.777000	0.33496	0.655000	0.94253	CTG	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411214.1		-	ENST00000300101.2	Missense_Mutation	SNP	12 : 57396934 - 57396934 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	399	73
SEC24A	10802	broad.mit.edu	37	5	134039521	134039521	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134039521A>G	ENST00000398844.2	+	16	2627	c.2339A>G	c.(2338-2340)aAc>aGc	p.N780S		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	780					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTAACGTCAACCCAGACGCT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	105	107			NA	NA	5		NA											NA				134039521		1866	4100	5966	SO:0001583	missense			AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615	10802	10802			10703	protein-coding gene	gene with protein product		607183	SEC24 (S. cerevisiae) related gene family, member A, SEC24 family, member A (S. cerevisiae)		NA	10075675, 10329445	Standard		NM_021982	NA	Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.2339A>G	5.37:g.134039521A>G	ENSP00000381823:p.Asn780Ser	NA	A8MVW3|Q8WUV2|Q96GP7	37	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	a	18.03	3.532589	0.64972	.	.	ENSG00000113615	ENST00000398844	T	0.21543	2.0	5.59	4.43	0.53597	Sec23/Sec24 beta-sandwich (1);	0.040458	0.85682	N	0.000000	T	0.28499	0.0705	L	0.33339	1.005	0.80722	D	1	D;D	0.54601	0.967;0.962	P;P	0.56960	0.649;0.81	T	0.01578	-1.1320	10	0.56958	D	0.05	-7.6536	11.6259	0.51145	0.9302:0.0:0.0698:0.0	.	544;780	B4E205;O95486	.;SC24A_HUMAN	S	780	ENSP00000381823:N780S	ENSP00000381823:N780S	N	+	2	0	SEC24A	134067420	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	6.321000	0.72881	0.957000	0.37930	-0.489000	0.04712	AAC	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000371563.1		+	ENST00000398844.2	Missense_Mutation	SNP	5 : 134039521 - 134039521 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	29
ERBB4	2066	broad.mit.edu	37	2	212495251	212495251	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212495251G>T	ENST00000342788.4	-	17	2325	c.2015C>A	c.(2014-2016)gCt>gAt	p.A672D	ERBB4_ENST00000436443.1_Missense_Mutation_p.A672D|ERBB4_ENST00000402597.1_Missense_Mutation_p.A662D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	672					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		AACATAAACAGCAAATGTCAG	0.403		NA								TSP Lung(8;0.080)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	107	105			NA	NA	2		NA											NA				212495251		2203	4300	6503	SO:0001583	missense			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568	2066	2066			3432	protein-coding gene	gene with protein product		600543	v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4		NA	7700649, 17018285	Standard	NM_001042599	NM_001042599	NA	Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2015C>A	2.37:g.212495251G>T	ENSP00000342235:p.Ala672Asp	NA	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	37	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.6|29.6	5.021134|5.021134	0.93462|0.93462	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943	T;T;T|.	0.76186|.	-0.99;-1.0;-1.0|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76478|0.76478	0.3993|0.3993	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	D;D;P;D;D|.	0.89917|.	1.0;0.996;0.529;1.0;1.0|.	D;P;B;D;D|.	0.77004|.	0.989;0.888;0.304;0.989;0.976|.	T|T	0.74642|0.74642	-0.3597|-0.3597	10|5	0.72032|.	D|.	0.01|.	.|.	19.6599|19.6599	0.95861|0.95861	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	662;662;531;672;672|.	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303|.	.;.;.;.;ERBB4_HUMAN|.	D|M	672;672;662|662	ENSP00000342235:A672D;ENSP00000403204:A672D;ENSP00000385565:A662D|.	ENSP00000342235:A672D|.	A|L	-|-	2|1	0|2	ERBB4|ERBB4	212203496|212203496	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.471000|9.471000	0.97696|0.97696	2.657000|2.657000	0.90304|0.90304	0.585000|0.585000	0.79938|0.79938	GCT|CTG	ERBB4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256597.1		-	ENST00000342788.4	Missense_Mutation	SNP	2 : 212495251 - 212495251 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	512	121
GP5	2814	broad.mit.edu	37	3	194118876	194118876	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:194118876G>T	ENST00000401815.1	-	1	207	c.136C>A	c.(136-138)Cta>Ata	p.L46I	GP5_ENST00000323007.3_Missense_Mutation_p.L46I			P40197	GPV_HUMAN	glycoprotein V (platelet)	46	LRRNT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GGCAGGCCTAGCGCGGAGATG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	35	35			NA	NA	3		NA											NA				194118876		2194	4284	6478	SO:0001583	missense			L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732	2814	2814		CD molecules	4443	protein-coding gene	gene with protein product		173511			NA	7690959	Standard	NM_004488	NM_004488	NA	Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.136C>A	3.37:g.194118876G>T	ENSP00000383931:p.Leu46Ile	NA		37	CCDS3307.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292667	0.40594	.	.	ENSG00000178732	ENST00000401815;ENST00000323007	T;T	0.42131	0.98;0.98	4.72	2.91	0.33838	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.31495	N	0.007541	T	0.43299	0.1241	L	0.29908	0.895	0.09310	N	1	D	0.89917	1.0	D	0.66084	0.941	T	0.18085	-1.0348	10	0.21014	T	0.42	.	8.376	0.32442	0.2441:0.0:0.7559:0.0	.	46	P40197	GPV_HUMAN	I	46	ENSP00000383931:L46I;ENSP00000319286:L46I	ENSP00000319286:L46I	L	-	1	2	GP5	195600165	0.002000	0.14202	0.099000	0.21106	0.162000	0.22319	0.483000	0.22292	1.290000	0.44636	0.561000	0.74099	CTA	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317710.1		-	ENST00000401815.1	Missense_Mutation	SNP	3 : 194118876 - 194118876 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	455	73
ZBED1	9189	broad.mit.edu	37	X	2406797	2406797	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2406797G>A	ENST00000381223.4	-	2	2167	c.1964C>T	c.(1963-1965)gCa>gTa	p.A655V	ZBED1_ENST00000515319.1_Intron|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381218.3_Missense_Mutation_p.A655V|ZBED1_ENST00000381222.2_Missense_Mutation_p.A655V	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	655						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTCCGCCTCTGCCCCACTCCG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	112	111			NA	NA	X		NA											NA				2406797		2203	4296	6499	SO:0001583	missense			AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717	9189	9189		Pseudoautosomal regions / PAR1, Zinc fingers, BED-type	447	protein-coding gene	gene with protein product		300178	Ac-like transposable element	ALTE	NA	9872452, 9887332, 23533661	Standard	NM_004729	NM_001171135	NA	Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.1964C>T	X.37:g.2406797G>A	ENSP00000370621:p.Ala655Val	NA	Q96BY4	37	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	G	3.572	-0.087486	0.07097	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218	.	.	.	3.06	2.16	0.27623	Ribonuclease H-like (1);	0.670871	0.11924	U	0.516364	T	0.28333	0.0700	.	.	.	0.09310	N	0.999999	B	0.27498	0.18	B	0.18871	0.023	T	0.11991	-1.0565	8	0.28530	T	0.3	.	11.3878	0.49796	0.0:0.1813:0.8187:0.0	.	655	O96006	ZBED1_HUMAN	V	655	.	ENSP00000370616:A655V	A	-	2	0	ZBED1	2416797	0.320000	0.24616	0.003000	0.11579	0.015000	0.08874	2.377000	0.44300	0.193000	0.20303	0.519000	0.50382	GCA	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000144310.3		-	ENST00000381223.4	Missense_Mutation	SNP	X : 2406797 - 2406797 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	573	201
ZFYVE16	9765	broad.mit.edu	37	5	79744105	79744105	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79744105T>C	ENST00000338008.5	+	7	3165	c.2985T>C	c.(2983-2985)atT>atC	p.I995I	ZFYVE16_ENST00000510158.1_Silent_p.I995I|ZFYVE16_ENST00000505560.1_Silent_p.I995I	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	995					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TTGCTAGTATTTCAGATTATA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(150;1452 1854 16018 17851 37292)							NA				0													89	85	86			NA	NA	5		NA											NA				79744105		2203	4300	6503	SO:0001819	synonymous_variant			AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319	9765	9765		Zinc fingers, FYVE domain containing, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	20756	protein-coding gene	gene with protein product	endofin, protein phosphatase 1, regulatory subunit 69	608880			NA	11546807	Standard	NM_014733	NM_014733	NA	Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.2985T>C	5.37:g.79744105T>C		NA	O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	37	CCDS4050.1																																																																																			ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226982.2		+	ENST00000338008.5	Silent	SNP	5 : 79744105 - 79744105 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	274	51
FBLN5	10516	broad.mit.edu	37	14	92353550	92353550	+	Silent	SNP	G	G	A	rs148209555		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92353550G>A	ENST00000267620.10	-	8	1018	c.849C>T	c.(847-849)ggC>ggT	p.G283G	FBLN5_ENST00000342058.4_Silent_p.G242G|FBLN5_ENST00000556154.1_Silent_p.G247G			Q9UBX5	FBLN5_HUMAN	fibulin 5	242	EGF-like 5; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding	p.G242G(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TGCAATGAACGCCATCTTCCT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	endometrium(1)						G		1,4405	2.1+/-5.4	0,1,2202	215	191	199		726	-10.6	0	14	dbSNP_134	199	0,8600		0,0,4300	no	coding-synonymous	FBLN5	NM_006329.3		0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077		242/449	92353550	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AJ133490	CCDS9898.1	14q31	2014-09-17				ENSG00000140092	10516	10516		Fibulins	3602	protein-coding gene	gene with protein product		604580			NA	10640802	Standard		NM_006329	NA	Approved	EVEC, UP50, DANCE, ARMD3	uc001xzx.4	Q9UBX5		ENST00000267620.10:c.849C>T	14.37:g.92353550G>A		NA	O75966|Q6UWA3	37																																																																																				FBLN5-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000411786.1		-	ENST00000267620.10	Silent	SNP	14 : 92353550 - 92353550 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	894	150
NIPBL	25836	broad.mit.edu	37	5	37045656	37045656	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37045656G>A	ENST00000282516.8	+	37	6954	c.6455G>A	c.(6454-6456)cGg>cAg	p.R2152Q	NIPBL_ENST00000448238.2_Missense_Mutation_p.R2152Q	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2152					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GCACTATGTCGGCATTTTGAT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													204	210	208			NA	NA	5		NA											NA				37045656		2203	4300	6503	SO:0001583	missense			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190	25836	25836			28862	protein-coding gene	gene with protein product	sister chromatid cohesion 2 homolog (yeast)	608667			NA	15146186, 15146185	Standard	NM_015384	NM_133433	NA	Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.6455G>A	5.37:g.37045656G>A	ENSP00000282516:p.Arg2152Gln	NA	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	36	5.601606	0.96614	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.65732	-0.17;-0.17	5.52	5.52	0.82312	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78149	0.4238	M	0.64567	1.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.987;0.989	T	0.77225	-0.2666	10	0.51188	T	0.08	-7.466	19.7999	0.96502	0.0:0.0:1.0:0.0	.	2152;2152	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	Q	2152	ENSP00000282516:R2152Q;ENSP00000406266:R2152Q	ENSP00000282516:R2152Q	R	+	2	0	NIPBL	37081413	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.388000	0.97237	2.753000	0.94483	0.557000	0.71058	CGG	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207582.1		+	ENST00000282516.8	Missense_Mutation	SNP	5 : 37045656 - 37045656 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1287	253
PALB2	79728	broad.mit.edu	37	16	23649187	23649187	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23649187C>T	ENST00000261584.4	-	3	347	c.195G>A	c.(193-195)ccG>ccA	p.P65P		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	65	Interaction with BRCA1.|Interaction with RAD51.|Required for its oligomerization and is important for its focal concentration at DNA damage sites.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GTTTTAGCTGCGGTGAGAGAT	0.388		NA	F, N, Mis			Wilms tumor, medulloblastoma, AML ,breast		Involved in tolerance or repair of DNA crosslinks						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Fanconi anaemia N, breast cancer susceptibility 	16	16p12.1	79728	partner and localizer of BRCA2		L, O, E	0													174	164	168			NA	NA	16		NA											NA				23649187		2197	4300	6497	SO:0001819	synonymous_variant				CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093	79728	79728		Fanconi anemia, complementation groups	26144	protein-coding gene	gene with protein product	Fanconi anemia, complementation group N	610355			NA	16793542, 17200672	Standard	NM_024675	NM_024675	NA	Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.195G>A	16.37:g.23649187C>T		NA	A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	37	CCDS32406.1																																																																																			PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000435287.2		-	ENST00000261584.4	Silent	SNP	16 : 23649187 - 23649187 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	453	93
ZC3HC1	51530	broad.mit.edu	37	7	129680929	129680929	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:129680929C>T	ENST00000481503.1	-	3	293	c.271G>A	c.(271-273)Gca>Aca	p.A91T	ZC3HC1_ENST00000358303.4_Missense_Mutation_p.A91T|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.A91T|ZC3HC1_ENST00000311873.5_Missense_Mutation_p.A70T			Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	91					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					GGCTTACCTGCCCATTTCAAA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(115;540 1606 16325 28853 48167)							NA				0													161	158	159			NA	NA	7		NA											NA				129680929		2203	4300	6503	SO:0001583	missense			AF151050	CCDS34753.1, CCDS64767.1, CCDS75659.1	7q32.2	2013-01-17			ENSG00000091732	ENSG00000091732	51530	51530		Zinc fingers, C3HC-type	29913	protein-coding gene	gene with protein product	nuclear interaction partner of ALK				NA	11042152	Standard	NM_016478	XM_005250403	NA	Approved	NIPA	uc003vpi.3	Q86WB0	OTTHUMG00000157648	ENST00000481503.1:c.271G>A	7.37:g.129680929C>T	ENSP00000418533:p.Ala91Thr	NA	A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	37		.	.	.	.	.	.	.	.	.	.	C	22.8	4.337788	0.81911	.	.	ENSG00000091732	ENST00000358303;ENST00000360708;ENST00000311873;ENST00000481503;ENST00000480193	T;T;T;T	0.43294	1.54;0.99;1.55;0.95	5.8	5.8	0.92144	Zinc finger, C3HC-like (1);	0.412542	0.25695	N	0.028910	T	0.48352	0.1495	L	0.45581	1.43	0.80722	D	1	P	0.48998	0.918	P	0.51297	0.665	T	0.17289	-1.0374	10	0.14656	T	0.56	-5.7662	18.6258	0.91338	0.0:1.0:0.0:0.0	.	91	Q86WB0	NIPA_HUMAN	T	91;91;70;91;91	ENSP00000351052:A91T;ENSP00000353933:A91T;ENSP00000309301:A70T;ENSP00000418533:A91T	ENSP00000309301:A70T	A	-	1	0	ZC3HC1	129468165	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	5.335000	0.65929	2.730000	0.93505	0.563000	0.77884	GCA	ZC3HC1-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000349319.1		-	ENST00000481503.1	Missense_Mutation	SNP	7 : 129680929 - 129680929 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	867	183
GBGT1	26301	broad.mit.edu	37	9	136030569	136030569	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136030569C>T	ENST00000372040.3	-	6	666	c.355G>A	c.(355-357)Ggg>Agg	p.G119R	GBGT1_ENST00000372043.3_Missense_Mutation_p.G119R|GBGT1_ENST00000540636.1_Missense_Mutation_p.G102R|GBGT1_ENST00000472281.1_5'UTR|RALGDS_ENST00000542690.1_Missense_Mutation_p.G131E|GBGT1_ENST00000372038.3_Missense_Mutation_p.G131E	NM_001282629.1	NP_001269558.1			globoside alpha-1,3-N-acetylgalactosaminyltransferase 1	NA										breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		ACTCACTTCCCCACGGCAAAC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	88	91			NA	NA	9		NA											NA				136030569		2203	4300	6503	SO:0001583	missense			AY358175	CCDS6960.1, CCDS65175.1, CCDS65176.1	9q34.13-q34.3	2014-07-18			ENSG00000148288	ENSG00000148288	26301	26301		Glycosyltransferase family 6 domain containing	20460	protein-coding gene	gene with protein product	Forssman glycolipid synthetase (FS), Forssman synthetase	606074			NA	10506200, 8855242	Standard	NM_021996	NM_021996	NA	Approved	UDP-GalNAc, A3GALNT, MGC44848, FS		Q8N5D6	OTTHUMG00000020853	ENST00000372040.3:c.355G>A	9.37:g.136030569C>T	ENSP00000361110:p.Gly119Arg	NA		37	CCDS6960.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.27|14.27	2.485858|2.485858	0.44147|0.44147	.|.	.|.	ENSG00000160271;ENSG00000148288|ENSG00000148288	ENST00000542690;ENST00000372038|ENST00000372043;ENST00000372040;ENST00000540636	T;T|T;T;T	0.42131|0.02579	1.87;0.98|4.96;4.24;4.24	4.98|4.98	4.09|4.09	0.47781|0.47781	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.05731|0.05731	0.0150|0.0150	M|M	0.71206|0.71206	2.165|2.165	0.58432|0.58432	D|D	0.999996|0.999996	B|P;P	0.17667|0.42357	0.023|0.777;0.777	B|B;B	0.17433|0.42738	0.018|0.396;0.396	T|T	0.22452|0.22452	-1.0216|-1.0216	10|10	0.87932|0.51188	D|T	0|0.08	.|.	8.9244|8.9244	0.35632|0.35632	0.0:0.8303:0.0:0.1697|0.0:0.8303:0.0:0.1697	.|.	131|102;119	F5H6M6|B7Z8S5;Q8N5D6	.|.;GBGT1_HUMAN	E|R	131|119;119;102	ENSP00000437518:G131E;ENSP00000361108:G131E|ENSP00000361113:G119R;ENSP00000361110:G119R;ENSP00000437663:G102R	ENSP00000361108:G131E|ENSP00000361110:G119R	G|G	-|-	2|1	0|0	GBGT1;RALGDS|GBGT1	135020390|135020390	0.996000|0.996000	0.38824|0.38824	0.997000|0.997000	0.53966|0.53966	0.084000|0.084000	0.17831|0.17831	4.413000|4.413000	0.59795|0.59795	1.085000|1.085000	0.41206|0.41206	-0.258000|-0.258000	0.10820|0.10820	GGG|GGG	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054815.1		-	ENST00000372040.3	Missense_Mutation	SNP	9 : 136030569 - 136030569 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	191	25
NIPBL	25836	broad.mit.edu	37	5	37000985	37000985	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37000985C>A	ENST00000282516.8	+	13	4068	c.3569C>A	c.(3568-3570)cCt>cAt	p.P1190H	NIPBL_ENST00000448238.2_Missense_Mutation_p.P1190H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1190					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AAACTAACACCTGAAGGTAAC	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	79	79			NA	NA	5		NA											NA				37000985		2202	4298	6500	SO:0001583	missense			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190	25836	25836			28862	protein-coding gene	gene with protein product	sister chromatid cohesion 2 homolog (yeast)	608667			NA	15146186, 15146185	Standard	NM_015384	NM_133433	NA	Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.3569C>A	5.37:g.37000985C>A	ENSP00000282516:p.Pro1190His	NA	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	9.594	1.126788	0.20959	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93307	-3.19;-3.2	5.91	5.91	0.95273	.	0.125114	0.56097	D	0.000033	D	0.90086	0.6903	L	0.36672	1.1	0.42382	D	0.992496	B;B	0.30741	0.293;0.261	B;B	0.19946	0.022;0.027	D	0.87524	0.2448	10	0.52906	T	0.07	.	20.2885	0.98538	0.0:1.0:0.0:0.0	.	1190;1190	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	H	1190	ENSP00000282516:P1190H;ENSP00000406266:P1190H	ENSP00000282516:P1190H	P	+	2	0	NIPBL	37036742	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.719000	0.47244	2.791000	0.96007	0.650000	0.86243	CCT	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207582.1		+	ENST00000282516.8	Missense_Mutation	SNP	5 : 37000985 - 37000985 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	167	29
DOCK4	9732	broad.mit.edu	37	7	111508079	111508079	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111508079C>T	ENST00000428084.1	-	22	2513	c.2241G>A	c.(2239-2241)tcG>tcA	p.S747S	DOCK4_ENST00000437633.1_Silent_p.S747S|DOCK4_ENST00000476846.1_5'UTR			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	747					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TGCTCTCTTGCGAAAGAAAGA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,3766		0,0,1883	53	55	54		2241	-11.9	0	7		54	1,8209		0,1,4104	no	coding-synonymous	DOCK4	NM_014705.3		0,1,5987	TT,TC,CC	NA	0.0122,0.0,0.0084		747/1967	111508079	1,11975	1883	4105	5988	SO:0001819	synonymous_variant				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512	9732	9732			19192	protein-coding gene	gene with protein product		607679			NA	12432077, 12628187	Standard	NM_014705	XM_006716188	NA	Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000428084.1:c.2241G>A	7.37:g.111508079C>T		NA	O14584|O94824|Q8NB45	37		.	.	.	.	.	.	.	.	.	.	C	7.772	0.707583	0.15239	0.0	1.22E-4	ENSG00000128512	ENST00000423057;ENST00000445943	.	.	.	5.95	-11.9	0.00025	.	.	.	.	.	T	0.42131	0.1189	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64228	-0.6457	4	.	.	.	.	6.0838	0.19956	0.2955:0.1037:0.5199:0.0809	.	.	.	.	H	199;735	.	.	R	-	2	0	DOCK4	111295315	0.000000	0.05858	0.007000	0.13788	0.970000	0.65996	-2.495000	0.00971	-5.305000	0.00017	-1.517000	0.00937	CGC	DOCK4-005	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000338943.2		-	ENST00000428084.1	Silent	SNP	7 : 111508079 - 111508079 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	96	21
RETSAT	54884	broad.mit.edu	37	2	85570385	85570385	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85570385C>T	ENST00000295802.4	-	11	1925	c.1813G>A	c.(1813-1815)Gca>Aca	p.A605T	RETSAT_ENST00000457495.2_Missense_Mutation_p.A544T|RETSAT_ENST00000263854.6_3'UTR	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	605					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TTCTTCTGTGCCCGGATCCTA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	109	108			NA	NA	2		NA											NA				85570385		2203	4300	6503	SO:0001583	missense			AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	54884	54884	1.3.99.23		25991	protein-coding gene	gene with protein product					NA	12975309, 15358783	Standard	NM_017750	NM_017750	NA	Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.1813G>A	2.37:g.85570385C>T	ENSP00000295802:p.Ala605Thr	NA	A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	37	CCDS1972.1	.	.	.	.	.	.	.	.	.	.	C	0.733	-0.779182	0.02929	.	.	ENSG00000042445	ENST00000295802;ENST00000457495	T;T	0.22945	1.94;1.93	4.79	3.0	0.34707	.	0.908581	0.09485	N	0.795783	T	0.26412	0.0645	M	0.73598	2.24	0.09310	N	0.999998	B;B;B	0.19445	0.036;0.036;0.021	B;B;B	0.14023	0.01;0.01;0.008	T	0.39035	-0.9633	10	0.15499	T	0.54	-1.6443	6.3913	0.21589	0.0:0.7056:0.0:0.2944	.	544;544;605	G5E9N3;B4DKE1;Q6NUM9	.;.;RETST_HUMAN	T	605;544	ENSP00000295802:A605T;ENSP00000405040:A544T	ENSP00000295802:A605T	A	-	1	0	RETSAT	85423896	0.068000	0.21057	0.140000	0.22221	0.035000	0.12851	0.503000	0.22610	0.634000	0.30469	0.561000	0.74099	GCA	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252489.1		-	ENST00000295802.4	Missense_Mutation	SNP	2 : 85570385 - 85570385 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	730	63
KCTD12	115207	broad.mit.edu	37	13	77460047	77460047	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77460047G>A	ENST00000377474.2	-	1	478	c.237C>T	c.(235-237)cgC>cgT	p.R79R	KCTD12_ENST00000317765.2_Silent_p.R79R	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN	potassium channel tetramerization domain containing 12	79						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		CCAGAAAGAAGCGGCCTTTGC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	16	17			NA	NA	13		NA											NA				77460047		2166	4237	6403	SO:0001819	synonymous_variant			AF359381	CCDS9455.1	13q21	2013-06-20	2013-06-20	2003-11-26	ENSG00000178695	ENSG00000178695	115207	115207			14678	protein-coding gene	gene with protein product	predominantly fetal expressed T1 domain	610521	chromosome 13 open reading frame 2, potassium channel tetramerisation domain containing 12	C13orf2	NA	15357420	Standard	NM_138444	NM_138444	NA	Approved	KIAA1778, PFET1	uc010aeu.1	Q96CX2	OTTHUMG00000017096	ENST00000377474.2:c.237C>T	13.37:g.77460047G>A		NA		37	CCDS9455.1																																																																																			KCTD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045309.2		-	ENST00000377474.2	Silent	SNP	13 : 77460047 - 77460047 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	132	25
TRPM6	140803	broad.mit.edu	37	9	77427277	77427277	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77427277C>A	ENST00000360774.1	-	12	1618	c.1381G>T	c.(1381-1383)Gaa>Taa	p.E461*	TRPM6_ENST00000449912.2_Nonsense_Mutation_p.E456*|TRPM6_ENST00000376872.3_Nonsense_Mutation_p.E461*|TRPM6_ENST00000376871.3_Nonsense_Mutation_p.E461*|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.E456*|TRPM6_ENST00000451710.3_Nonsense_Mutation_p.E461*|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.E461*	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	461					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ACTCCATATTCTATTAAGAGC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	104	107			NA	NA	9		NA											NA				77427277		2203	4300	6503	SO:0001587	stop_gained			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121	140803	140803		Voltage-gated ion channels / Transient receptor potential cation channels	17995	protein-coding gene	gene with protein product		607009	hypomagnesemia, secondary hypocalcemia	HOMG, HSH	NA	10021370, 12032570, 16382100	Standard	NM_017662	NM_017662	NA	Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1381G>T	9.37:g.77427277C>A	ENSP00000354006:p.Glu461*	NA	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	40	8.385365	0.98789	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	.	.	.	5.7	5.7	0.88788	.	0.044112	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8436	0.96701	0.0:1.0:0.0:0.0	.	.	.	.	X	461;461;461;461;456;456;461;124;124	.	ENSP00000309693:E124X	E	-	1	0	TRPM6	76617097	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.695000	0.91970	0.650000	0.86243	GAA	TRPM6-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052693.1		-	ENST00000360774.1	Nonsense_Mutation	SNP	9 : 77427277 - 77427277 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	478	91
CACNA1F	778	broad.mit.edu	37	X	49071930	49071930	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49071930C>T	ENST00000376265.2	-	28	3404	c.3343G>A	c.(3343-3345)Gtg>Atg	p.V1115M	CACNA1F_ENST00000323022.5_Missense_Mutation_p.V1104M|CACNA1F_ENST00000376251.1_Missense_Mutation_p.V1050M	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1115	Dihydropyridine binding (By similarity).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	ATGAAGAACACTGAGATCTCC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	89	98			NA	NA	X		NA											NA				49071930		2203	4300	6503	SO:0001583	missense			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001	778	778		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1393	protein-coding gene	gene with protein product		300110	Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)	CSNB2, AIED	NA	9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183	NM_005183	NA	Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.3343G>A	X.37:g.49071930C>T	ENSP00000365441:p.Val1115Met	NA	A6NI29|O43901|Q9UHB1	37	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	.	15.58	2.875558	0.51695	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.98684	-5.07;-5.07;-5.07	5.13	2.36	0.29203	Ion transport (1);	0.429330	0.22789	N	0.055631	D	0.96210	0.8764	L	0.41079	1.255	0.27141	N	0.961644	B;P	0.43314	0.225;0.803	B;B	0.42062	0.048;0.374	D	0.92451	0.5970	10	0.72032	D	0.01	.	7.5806	0.27963	0.0:0.5361:0.0:0.4639	.	1104;1115	F5CIQ9;O60840	.;CAC1F_HUMAN	M	1050;1104;1115	ENSP00000365427:V1050M;ENSP00000321618:V1104M;ENSP00000365441:V1115M	ENSP00000321618:V1104M	V	-	1	0	CACNA1F	48958874	0.971000	0.33674	0.597000	0.28824	0.952000	0.60782	1.968000	0.40500	0.391000	0.25143	0.597000	0.82753	GTG	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358157.1		-	ENST00000376265.2	Missense_Mutation	SNP	X : 49071930 - 49071930 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	116	31
GAD2	2572	broad.mit.edu	37	10	26559594	26559594	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26559594C>T	ENST00000376261.3	+	10	1504	c.1001C>T	c.(1000-1002)gCc>gTc	p.A334V	GAD2_ENST00000259271.3_Missense_Mutation_p.A334V	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	334					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CTCGTGAGTGCCACAGCTGGA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	164	166			NA	NA	10		NA											NA				26559594		2203	4300	6503	SO:0001583	missense			AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	2572	2572	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)		NA	2039509	Standard	NM_000818	NM_000818	NA	Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1001C>T	10.37:g.26559594C>T	ENSP00000365437:p.Ala334Val	NA	Q9UD87	37	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884271	0.91814	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.54866	0.55;0.55	5.61	5.61	0.85477	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.097447	0.64402	D	0.000001	T	0.78672	0.4320	M	0.90870	3.155	0.80722	D	1	D	0.76494	0.999	D	0.66602	0.945	T	0.83351	-0.0003	10	0.87932	D	0	-17.2435	19.2442	0.93895	0.0:1.0:0.0:0.0	.	334	Q05329	DCE2_HUMAN	V	334	ENSP00000365437:A334V;ENSP00000259271:A334V	ENSP00000259271:A334V	A	+	2	0	GAD2	26599600	1.000000	0.71417	0.999000	0.59377	0.910000	0.53928	5.601000	0.67606	2.660000	0.90430	0.643000	0.83706	GCC	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047255.1		+	ENST00000376261.3	Missense_Mutation	SNP	10 : 26559594 - 26559594 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	913	41
KRTAP20-2	337976	broad.mit.edu	37	21	32007688	32007688	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32007688G>T	ENST00000330798.2	+	1	134	c.106G>T	c.(106-108)Ggc>Tgc	p.G36C		NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	36						intermediate filament				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						TGGAGGCCTGGGCTGTGGCTA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													203	160	175			NA	NA	21		NA											NA				32007688		2203	4300	6503	SO:0001583	missense			AP001708	CCDS13604.1	21q22.1	2006-03-13			ENSG00000184032	ENSG00000184032	337976	337976		Keratin associated proteins	18944	protein-coding gene	gene with protein product					NA	12359730	Standard		NM_181616	NA	Approved	KAP20.2	uc011adg.2	Q3LI61	OTTHUMG00000057786	ENST00000330798.2:c.106G>T	21.37:g.32007688G>T	ENSP00000330746:p.Gly36Cys	NA		37	CCDS13604.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931851	0.34096	.	.	ENSG00000184032	ENST00000330798	T	0.19938	2.11	4.63	4.63	0.57726	.	0.000000	0.32147	U	0.006504	T	0.44329	0.1288	.	.	.	0.21355	N	0.999715	D	0.89917	1.0	D	0.79108	0.992	T	0.24728	-1.0152	9	0.87932	D	0	.	13.2097	0.59817	0.0:0.0:1.0:0.0	.	36	Q3LI61	KR202_HUMAN	C	36	ENSP00000330746:G36C	ENSP00000330746:G36C	G	+	1	0	KRTAP20-2	30929559	0.001000	0.12720	0.402000	0.26371	0.263000	0.26337	0.820000	0.27323	2.593000	0.87608	0.650000	0.86243	GGC	KRTAP20-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128238.3		+	ENST00000330798.2	Missense_Mutation	SNP	21 : 32007688 - 32007688 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	614	23
PRKCSH	5589	broad.mit.edu	37	19	11557939	11557939	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11557939C>T	ENST00000591462.1	+	11	1108	c.813C>T	c.(811-813)cgC>cgT	p.R271R	PRKCSH_ENST00000589838.1_Silent_p.R271R|PRKCSH_ENST00000252455.2_Silent_p.R271R|PRKCSH_ENST00000412601.1_Silent_p.R271R|PRKCSH_ENST00000592741.1_Silent_p.R271R|PRKCSH_ENST00000587327.1_Silent_p.R271R			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	271	EF-hand 2.				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						TCTACGACCGCGTCTGGGCCG	0.637		NA									OREG0025258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	76	81			NA	NA	19		NA											NA				11557939		2203	4300	6503	SO:0001819	synonymous_variant				CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	5589	5589	2.7.11.1	EF-hand domain containing	9411	protein-coding gene	gene with protein product		177060	polycystic liver disease	G19P1, PCLD, PLD1	NA	12529853	Standard		NM_002743	NA	Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000591462.1:c.813C>T	19.37:g.11557939C>T		673	Q96BU9|Q96D06|Q9P0W9	37	CCDS45977.1																																																																																			PRKCSH-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458806.1		+	ENST00000591462.1	Silent	SNP	19 : 11557939 - 11557939 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	405	79
SULF2	55959	broad.mit.edu	37	20	46365517	46365517	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46365517C>T	ENST00000359930.4	-	3	1196	c.345G>A	c.(343-345)tcG>tcA	p.S115S	SULF2_ENST00000361612.4_Silent_p.S115S|SULF2_ENST00000467815.1_Silent_p.S115S|SULF2_ENST00000478766.1_5'UTR|SULF2_ENST00000484875.1_Silent_p.S115S	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	115					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GCCAGGAGGGCGAGGAGCAGT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													232	166	188			NA	NA	20		NA											NA				46365517		2203	4300	6503	SO:0001819	synonymous_variant			AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562	55959	55959			20392	protein-coding gene	gene with protein product		610013			NA	12368295	Standard	NM_018837	NM_018837	NA	Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.345G>A	20.37:g.46365517C>T		NA	E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	37	CCDS13408.1																																																																																			SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079606.1		-	ENST00000359930.4	Silent	SNP	20 : 46365517 - 46365517 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	52
ADAMTS16	170690	broad.mit.edu	37	5	5232600	5232600	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5232600T>A	ENST00000274181.7	+	12	1959	c.1821T>A	c.(1819-1821)tcT>tcA	p.S607S		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	607	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGGGAGTATCTCATAGGAGTC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	113	108			NA	NA	5		NA											NA				5232600		2170	4268	6438	SO:0001819	synonymous_variant			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536	170690	170690		ADAM metallopeptidases with thrombospondin type 1 motif	17108	protein-coding gene	gene with protein product		607510	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16		NA	11867212	Standard	NM_139056	NM_139056	NA	Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1821T>A	5.37:g.5232600T>A		NA	C6G490|Q8IVE2	37	CCDS43299.1																																																																																			ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365657.1		+	ENST00000274181.7	Silent	SNP	5 : 5232600 - 5232600 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	652	107
RFPL3	10738	broad.mit.edu	37	22	32754256	32754256	+	Silent	SNP	G	G	A	rs61729170	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32754256G>A	ENST00000249007.4	+	1	403	c.198G>A	c.(196-198)tcG>tcA	p.S66S	RFPL3_ENST00000397468.1_Silent_p.S37S|RFPL3_ENST00000382088.3_Silent_p.S37S	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	66							zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GCATCAATTCGCTGCAGAAGG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	114	117			NA	NA	22		NA											NA				32754256		2203	4300	6503	SO:0001819	synonymous_variant			AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276	10738	10738			9980	protein-coding gene	gene with protein product		605970			NA	10508838	Standard	NM_006604	NM_006604	NA	Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.198G>A	22.37:g.32754256G>A		NA	Q6IC03|Q6IC04|Q6NSX3	37	CCDS43011.1																																																																																			RFPL3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075172.3		+	ENST00000249007.4	Silent	SNP	22 : 32754256 - 32754256 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	554	119
POGZ	23126	broad.mit.edu	37	1	151377824	151377824	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151377824G>T	ENST00000271715.2	-	19	4001	c.3687C>A	c.(3685-3687)gaC>gaA	p.D1229E	POGZ_ENST00000491586.1_Missense_Mutation_p.D1185E|POGZ_ENST00000540984.1_Missense_Mutation_p.D591E|POGZ_ENST00000392723.1_Missense_Mutation_p.D1176E|POGZ_ENST00000361398.3_Missense_Mutation_p.D1176E|POGZ_ENST00000409503.1_Missense_Mutation_p.D1220E|POGZ_ENST00000531094.1_Missense_Mutation_p.D1167E|POGZ_ENST00000368863.2_Missense_Mutation_p.D1134E	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1229	DDE.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGCGATGACAGTCCATCACAA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	93	97			NA	NA	1		NA											NA				151377824		2203	4300	6503	SO:0001583	missense			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442	23126	23126			18801	protein-coding gene	gene with protein product	zinc finger protein 280E, putative protein product of Nbla00003	614787			NA	10976766	Standard	NM_207171	NM_015100	NA	Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.3687C>A	1.37:g.151377824G>T	ENSP00000271715:p.Asp1229Glu	NA	O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	37	CCDS997.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332214	0.60853	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586	T;T;T;T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04;0.04;0.04;0.04	5.98	5.98	0.97165	.	0.000000	0.64402	D	0.000001	T	0.72228	0.3434	M	0.66297	2.02	0.45005	D	0.998021	D;D;D;D;D;D	0.76494	0.999;0.999;0.996;0.996;0.99;0.999	D;D;D;D;D;D	0.85130	0.997;0.997;0.987;0.987;0.98;0.997	T	0.74777	-0.3550	10	0.87932	D	0	-22.2533	13.2928	0.60280	0.0761:0.0:0.9239:0.0	.	1167;1220;1134;1185;1176;1229	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	E	1176;1229;1176;1134;1220;1167;591;1185	ENSP00000376484:D1176E;ENSP00000271715:D1229E;ENSP00000354467:D1176E;ENSP00000357856:D1134E;ENSP00000386836:D1220E;ENSP00000431259:D1167E;ENSP00000443547:D591E;ENSP00000418408:D1185E	ENSP00000271715:D1229E	D	-	3	2	POGZ	149644448	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.439000	0.52878	2.838000	0.97847	0.591000	0.81541	GAC	POGZ-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034915.2		-	ENST00000271715.2	Missense_Mutation	SNP	1 : 151377824 - 151377824 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	479	12
PAQR4	124222	broad.mit.edu	37	16	3022958	3022958	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3022958G>A	ENST00000572687.1	+	0	1726				PKMYT1_ENST00000431515.2_Intron|PKMYT1_ENST00000262300.8_Missense_Mutation_p.T499I|PKMYT1_ENST00000574730.1_Missense_Mutation_p.T430I|PAQR4_ENST00000318782.8_3'UTR|PKMYT1_ENST00000440027.2_3'UTR|PKMYT1_ENST00000573944.1_Missense_Mutation_p.T490I|PAQR4_ENST00000293978.8_3'UTR|PKMYT1_ENST00000574385.1_Missense_Mutation_p.T490I	NM_001284512.1	NP_001271441.1	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	NA						integral to membrane	receptor activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						TGGGGCTCAGGTTGGGTCTAG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	53	54			NA	NA	16		NA											NA				3022958		2195	4296	6491	SO:0001624	3_prime_UTR_variant				CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073	124222	124222			26386	protein-coding gene	gene with protein product		614578			NA	12477932	Standard	NM_152341	XM_005255112	NA	Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000572687.1:c.*1009G>A	16.37:g.3022958G>A		NA	A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	37		.	.	.	.	.	.	.	.	.	.	G	9.293	1.051002	0.19827	.	.	ENSG00000127564	ENST00000262300;ENST00000402679	T	0.58940	0.3	5.34	0.64	0.17752	.	0.858383	0.10244	N	0.698096	T	0.32882	0.0844	N	0.08118	0	0.80722	D	1	B;B	0.13145	0.007;0.007	B;B	0.16289	0.015;0.015	T	0.14868	-1.0457	10	0.66056	D	0.02	.	4.123	0.10114	0.0873:0.2402:0.5013:0.1713	.	430;499	B4DXD4;Q99640	.;PMYT1_HUMAN	I	499	ENSP00000262300:T499I	ENSP00000262300:T499I	T	-	2	0	PKMYT1	2962959	0.030000	0.19436	0.761000	0.31378	0.963000	0.63663	0.014000	0.13333	0.230000	0.21059	0.561000	0.74099	ACC	PAQR4-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000436739.1		+	ENST00000572687.1	3'UTR	SNP	16 : 3022958 - 3022958 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	92	18
ABCC3	8714	broad.mit.edu	37	17	48733272	48733272	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48733272G>A	ENST00000285238.8	+	2	205	c.125G>A	c.(124-126)tGc>tAc	p.C42Y	ABCC3_ENST00000427699.1_Missense_Mutation_p.C42Y	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	42				C -> R (in Ref. 5; CAA76658).	bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TGGGTGCCCTGCATCTACCTG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	109	117			NA	NA	17		NA											NA				48733272		2203	4300	6503	SO:0001583	missense			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846	8714	8714		ATP binding cassette transporters / subfamily C	54	protein-coding gene	gene with protein product	canalicular multispecific organic anion transporter 2	604323			NA	8894702, 9827529	Standard	NM_020038	NM_003786	NA	Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.125G>A	17.37:g.48733272G>A	ENSP00000285238:p.Cys42Tyr	NA	B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	37	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364654	0.82463	.	.	ENSG00000108846	ENST00000427699;ENST00000285238	T;T	0.59502	0.26;0.26	5.19	4.18	0.49190	.	0.060583	0.64402	D	0.000003	T	0.77412	0.4126	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.79108	0.903;0.992	T	0.81906	-0.0718	10	0.87932	D	0	-25.6963	14.6648	0.68899	0.0:0.1459:0.8541:0.0	.	42;42	O15438;O15438-5	MRP3_HUMAN;.	Y	42	ENSP00000395160:C42Y;ENSP00000285238:C42Y	ENSP00000285238:C42Y	C	+	2	0	ABCC3	46088271	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.338000	0.65947	2.411000	0.81874	0.650000	0.86243	TGC	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368083.2		+	ENST00000285238.8	Missense_Mutation	SNP	17 : 48733272 - 48733272 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	334	61
NOL8	55035	broad.mit.edu	37	9	95069174	95069174	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95069174T>G	ENST00000535387.1	-	9	2704	c.2705A>C	c.(2704-2706)aAa>aCa	p.K902T	NOL8_ENST00000545558.1_Missense_Mutation_p.K940T|NOL8_ENST00000542053.1_Missense_Mutation_p.K872T|NOL8_ENST00000442668.2_Missense_Mutation_p.K940T|NOL8_ENST00000358855.4_Missense_Mutation_p.K872T			Q76FK4	NOL8_HUMAN	nucleolar protein 8	940					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						ATACTTAAATTTCTTAGCAGC	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													182	181	181			NA	NA	9		NA											NA				95069174		1843	4098	5941	SO:0001583	missense			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000	55035	55035		RNA binding motif (RRM) containing	23387	protein-coding gene	gene with protein product		611534	chromosome 9 open reading frame 34	C9orf34	NA	12477932	Standard	NM_017948	NM_017948	NA	Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.2705A>C	9.37:g.95069174T>G	ENSP00000441300:p.Lys902Thr	NA	Q5TCC7|Q5TCC8|Q5TCD3|Q5TCD5|Q5TCD6|Q5TCD7|Q76D35|Q7L3E2|Q9H586|Q9H795|Q9H7W7|Q9H9J6|Q9NWA4|Q9NWM4	37	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	T	19.81	3.896931	0.72639	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670	T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41	5.55	5.55	0.83447	.	0.249376	0.44902	D	0.000408	T	0.37679	0.1012	L	0.54908	1.71	0.38998	D	0.959286	P;D	0.53312	0.879;0.959	B;P	0.47744	0.36;0.556	T	0.38415	-0.9662	10	0.72032	D	0.01	-25.1845	13.73	0.62781	0.0:0.0:0.0:1.0	.	872;940	Q76FK4-2;Q76FK4	.;NOL8_HUMAN	T	940;904;872;940;902;872;940	ENSP00000401177:K940T;ENSP00000351723:K872T;ENSP00000441140:K940T;ENSP00000441300:K902T;ENSP00000440709:K872T;ENSP00000414112:K940T	ENSP00000351723:K872T	K	-	2	0	NOL8	94108995	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.577000	0.36515	2.238000	0.73509	0.477000	0.44152	AAA	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053082.2		-	ENST00000535387.1	Missense_Mutation	SNP	9 : 95069174 - 95069174 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	672	134
ASB9	140462	broad.mit.edu	37	X	15276992	15276992	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15276992C>A	ENST00000380488.4	-	2	443	c.170G>T	c.(169-171)aGc>aTc	p.S57I	ASB9_ENST00000546332.1_Missense_Mutation_p.S57I|ASB9_ENST00000380483.3_Missense_Mutation_p.S57I|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380485.3_Missense_Mutation_p.S57I	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	57					intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					AGCTACCTGGCTGATGAGGTT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	97	102			NA	NA	X		NA											NA				15276992		2203	4300	6503	SO:0001583	missense			AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048	140462	140462		Ankyrin repeat domain containing	17184	protein-coding gene	gene with protein product		300890	ankyrin repeat and SOCS box-containing 9		NA	12076535	Standard		NM_001031739	NA	Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.170G>T	X.37:g.15276992C>A	ENSP00000369855:p.Ser57Ile	NA	A8K8A5|Q9NWS5|Q9Y4T3	37	CCDS35208.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.111713	0.56398	.	.	ENSG00000102048	ENST00000380483;ENST00000380485;ENST00000380488;ENST00000546332	T;T;T;T	0.65732	-0.17;-0.16;-0.16;-0.16	5.84	2.18	0.27775	Ankyrin repeat-containing domain (3);	0.519060	0.24381	N	0.039004	T	0.70527	0.3234	M	0.67625	2.065	0.31781	N	0.630865	D;P;D;P	0.62365	0.991;0.847;0.979;0.954	P;P;P;P	0.60609	0.877;0.674;0.858;0.644	T	0.73043	-0.4107	10	0.87932	D	0	-4.8505	8.4539	0.32888	0.0:0.4907:0.0:0.5093	.	57;57;57;57	Q7Z4A2;Q9BVF5;Q96DX5;Q96DX5-2	.;.;ASB9_HUMAN;.	I	57	ENSP00000369850:S57I;ENSP00000369852:S57I;ENSP00000369855:S57I;ENSP00000438943:S57I	ENSP00000369850:S57I	S	-	2	0	ASB9	15186913	0.051000	0.20477	0.970000	0.41538	0.636000	0.38137	-0.574000	0.05868	0.003000	0.14656	-0.192000	0.12808	AGC	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055844.1		-	ENST00000380488.4	Missense_Mutation	SNP	X : 15276992 - 15276992 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	258	80
PHLDB2	90102	broad.mit.edu	37	3	111603559	111603559	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111603559G>A	ENST00000431670.2	+	2	1046	c.635G>A	c.(634-636)aGc>aAc	p.S212N	PHLDB2_ENST00000393925.3_Missense_Mutation_p.S212N|PHLDB2_ENST00000478922.1_Missense_Mutation_p.S212N|PHLDB2_ENST00000412622.1_Missense_Mutation_p.S212N|PHLDB2_ENST00000477695.1_Missense_Mutation_p.S212N|PHLDB2_ENST00000393923.3_Missense_Mutation_p.S239N|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S212N	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	212						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGGAAAATGAGCATTCAGGAC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	62	62			NA	NA	3		NA											NA				111603559		2203	4300	6503	SO:0001583	missense				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824	90102	90102		Pleckstrin homology (PH) domain containing	29573	protein-coding gene	gene with protein product		610298			NA	12376540	Standard	NM_145753	NM_145753	NA	Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.635G>A	3.37:g.111603559G>A	ENSP00000405405:p.Ser212Asn	NA	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	37	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	G	0.902	-0.721857	0.03182	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.31510	1.52;1.53;1.53;1.49;1.53;1.53	5.61	-1.59	0.08453	.	0.612468	0.19263	N	0.118609	T	0.04770	0.0129	N	0.00436	-1.5	0.09310	N	0.999999	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0	B;B;B;B;B	0.06405	0.0;0.001;0.002;0.001;0.001	T	0.34104	-0.9842	10	0.06099	T	0.92	.	1.8583	0.03184	0.2687:0.158:0.417:0.1562	.	212;212;212;212;239	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	N	239;239;212;212;212;212;212;212;212	ENSP00000377500:S239N;ENSP00000405405:S212N;ENSP00000405292:S212N;ENSP00000418296:S212N;ENSP00000377502:S212N;ENSP00000418319:S212N	ENSP00000352764:S239N	S	+	2	0	PHLDB2	113086249	0.853000	0.29707	0.375000	0.26029	0.952000	0.60782	1.298000	0.33412	-0.076000	0.12775	-0.345000	0.07892	AGC	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354337.1		+	ENST00000431670.2	Missense_Mutation	SNP	3 : 111603559 - 111603559 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	394	87
DCAF12L2	340578	broad.mit.edu	37	X	125299095	125299095	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:125299095G>A	ENST00000360028.2	-	1	839	c.813C>T	c.(811-813)agC>agT	p.S271S	DCAF12L2_ENST00000538699.1_Silent_p.S271S			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	271										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GGTTCTTGCCGCTGAAGGCCA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,3834		0,1,1631,571	47	51	49		813	-3	0.4	X		49	0,6728		0,0,2428,1872	no	coding-synonymous	DCAF12L2	NM_001013628.2		0,1,4059,2443	AA,AG,GG,G	NA	0.0,0.0261,0.0095		271/464	125299095	1,10562	2203	4300	6503	SO:0001819	synonymous_variant			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354	340578	340578		WD repeat domain containing	32950	protein-coding gene	gene with protein product			WD repeat domain 40C	WDR40C	NA		Standard	NM_001013628	NM_001013628	NA	Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.813C>T	X.37:g.125299095G>A		NA	B2RN42	37	CCDS43991.1																																																																																			DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058181.1		-	ENST00000360028.2	Silent	SNP	X : 125299095 - 125299095 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	299	84
CYP4A22	284541	broad.mit.edu	37	1	47610579	47610579	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47610579C>T	ENST00000371891.3	+	9	1190	c.1159C>T	c.(1159-1161)Cca>Tca	p.P387S	CYP4A22_ENST00000371890.3_Missense_Mutation_p.P289S|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000294337.3_Missense_Mutation_p.P387S|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	387						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCCACCGGTGCCAGGCATTGG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(88;1240 1470 2099 14214 37557)							NA				0													114	93	100			NA	NA	1		NA											NA				47610579		2203	4300	6503	SO:0001583	missense				CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365	284541	284541		Cytochrome P450s	20575	protein-coding gene	gene with protein product		615341			NA		Standard	XM_208213	XM_005270768	NA	Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.1159C>T	1.37:g.47610579C>T	ENSP00000360958:p.Pro387Ser	NA	Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	37	CCDS30707.1	.	.	.	.	.	.	.	.	.	.	c	15.95	2.985172	0.53934	.	.	ENSG00000162365	ENST00000371890;ENST00000371891;ENST00000294337	T;T;T	0.73047	-0.63;-0.71;-0.71	1.51	1.51	0.23008	.	0.049915	0.85682	D	0.000000	T	0.78188	0.4244	M	0.78049	2.395	0.40862	D	0.983847	B;B	0.29671	0.236;0.254	P;B	0.48304	0.573;0.438	T	0.79249	-0.1881	10	0.87932	D	0	.	8.7264	0.34471	0.226:0.7739:0.0:0.0	.	289;387	Q5TCH5;Q5TCH4	.;CP4AM_HUMAN	S	289;387;387	ENSP00000360957:P289S;ENSP00000360958:P387S;ENSP00000294337:P387S	ENSP00000294337:P387S	P	+	1	0	CYP4A22	47383166	0.674000	0.27549	0.015000	0.15790	0.465000	0.32709	2.614000	0.46359	0.842000	0.35045	0.194000	0.17425	CCA	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021635.1		+	ENST00000371891.3	Missense_Mutation	SNP	1 : 47610579 - 47610579 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	260	63
PRPS1L1	221823	broad.mit.edu	37	7	18067034	18067034	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18067034G>A	ENST00000506618.2	-	1	452	c.372C>T	c.(370-372)atC>atT	p.I124I		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	124					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CCATGGTGATGATATGATCCG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	144	145			NA	NA	7		NA											NA				18067034		2203	4300	6503	SO:0001819	synonymous_variant			M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937	221823	221823			9463	protein-coding gene	gene with protein product		611566		PRPSL	NA	2168892	Standard	NM_175886	NM_175886	NA	Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.372C>T	7.37:g.18067034G>A		NA	Q6P5P6	37	CCDS47552.1																																																																																			PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327667.1		-	ENST00000506618.2	Silent	SNP	7 : 18067034 - 18067034 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	535	127
COL4A2	1284	broad.mit.edu	37	13	111118398	111118398	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111118398C>T	ENST00000360467.5	+	26	2333	c.2027C>T	c.(2026-2028)gCc>gTc	p.A676V		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	676	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGACAGGAGGCCATCCAGCCA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	132	131			NA	NA	13		NA											NA				111118398		1984	4166	6150	SO:0001583	missense			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871	1284	1284		Collagens	2203	protein-coding gene	gene with protein product	canstatin, collagen type IV alpha 2	120090			NA	2439508, 3025878	Standard	NM_001846	NM_001846	NA	Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.2027C>T	13.37:g.111118398C>T	ENSP00000353654:p.Ala676Val	NA	Q14052|Q548C3|Q5VZA9|Q66K23	37	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	C	2.495	-0.316553	0.05422	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.91237	-2.81	4.67	-2.22	0.06952	.	2.146400	0.02982	N	0.145762	T	0.77605	0.4155	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.66834	-0.5823	10	0.19590	T	0.45	.	5.4056	0.16320	0.0:0.2764:0.1621:0.5615	.	676	P08572	CO4A2_HUMAN	V	676	ENSP00000353654:A676V	ENSP00000257309:A676V	A	+	2	0	COL4A2	109916399	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-1.665000	0.01965	-0.142000	0.11354	-0.363000	0.07495	GCC	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045761.2		+	ENST00000360467.5	Missense_Mutation	SNP	13 : 111118398 - 111118398 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	437	32
HSPA12A	259217	broad.mit.edu	37	10	118458251	118458251	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118458251C>A	ENST00000369209.3	-	5	546		c.e5-1			NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	NA							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TGGTGAGGTCCTGGTAGGAGG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	109	111			NA	NA	10		NA											NA				118458251		1932	4141	6073	SO:0001630	splice_region_variant			AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868	259217	259217		Heat shock proteins / HSP70	19022	protein-coding gene	gene with protein product		610701	heat shock 70kD protein 12A		NA	12552099	Standard	NM_025015	NM_025015	NA	Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.442-1G>T	10.37:g.118458251C>A		NA		37	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844608	0.71488	.	.	ENSG00000165868	ENST00000369209	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6322	0.95713	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HSPA12A	118448241	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.803000	0.85983	2.652000	0.90054	0.655000	0.94253	.	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050530.1	Intron	-	ENST00000369209.3	Splice_Site	SNP	10 : 118458251 - 118458251 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	589	113
TFCP2	7024	broad.mit.edu	37	12	51493563	51493563	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51493563C>A	ENST00000307660.4	-	11	1719		c.e11-1		TFCP2_ENST00000548115.1_Splice_Site|TFCP2_ENST00000257915.5_Splice_Site|TFCP2_ENST00000549867.1_Splice_Site	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN	transcription factor CP2	NA					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						ACGCACCATCCTAAGGGGAGG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	112	122			NA	NA	12		NA											NA				51493563		2203	4300	6503	SO:0001630	splice_region_variant			U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457	7024	7024			11748	protein-coding gene	gene with protein product		189889			NA	8157699	Standard	NM_005653	NM_005653	NA	Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000307660.4:c.999-1G>T	12.37:g.51493563C>A		NA	A8K5E9|Q12801|Q9UD75|Q9UD77	37		.	.	.	.	.	.	.	.	.	.	C	22.4	4.287250	0.80803	.	.	ENSG00000135457	ENST00000257915;ENST00000307660;ENST00000549867;ENST00000548115;ENST00000548108	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4858	0.90828	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TFCP2	49779830	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.203000	0.77864	2.843000	0.97960	0.585000	0.79938	.	TFCP2-201	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000405124.1	Intron	-	ENST00000307660.4	Splice_Site	SNP	12 : 51493563 - 51493563 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	345	60
KLHL32	114792	broad.mit.edu	37	6	97578726	97578726	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:97578726G>A	ENST00000369261.4	+	9	1870	c.1507G>A	c.(1507-1509)Gac>Aac	p.D503N	KLHL32_ENST00000544166.1_Missense_Mutation_p.D59N|KLHL32_ENST00000539200.1_Missense_Mutation_p.D434N|KLHL32_ENST00000536676.1_Missense_Mutation_p.D467N	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	503										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TGGAGGCAATGACCTAGACTA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	143	149			NA	NA	6		NA											NA				97578726		2203	4300	6503	SO:0001583	missense			AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231	114792	114792		Kelch-like, BTB/POZ domain containing	21221	protein-coding gene	gene with protein product			BTB and kelch domain containing 5, KIAA1900, kelch-like 32 (Drosophila)	BKLHD5, KIAA1900	NA		Standard	NM_052904	NM_052904	NA	Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.1507G>A	6.37:g.97578726G>A	ENSP00000358265:p.Asp503Asn	NA	E1P528|Q5THT0|Q96PY7	37	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106944	0.77096	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000544166;ENST00000539200	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	4.96	4.96	0.65561	Kelch-type beta propeller (1);	0.049990	0.85682	N	0.000000	T	0.68988	0.3061	L	0.37750	1.13	0.80722	D	1	B;B;B;P	0.42620	0.001;0.22;0.0;0.785	B;B;B;P	0.44946	0.008;0.19;0.012;0.465	T	0.74200	-0.3742	10	0.59425	D	0.04	.	18.4056	0.90535	0.0:0.0:1.0:0.0	.	434;467;503;59	B7Z4E2;B7Z346;Q96NJ5;Q8IXH0	.;.;KLH32_HUMAN;.	N	503;467;59;434	ENSP00000358265:D503N;ENSP00000440382:D467N;ENSP00000445453:D59N;ENSP00000441527:D434N	ENSP00000358265:D503N	D	+	1	0	KLHL32	97685447	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.238000	0.95380	2.576000	0.86940	0.609000	0.83330	GAC	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041570.1		+	ENST00000369261.4	Missense_Mutation	SNP	6 : 97578726 - 97578726 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	621	54
TIPARP	25976	broad.mit.edu	37	3	156422599	156422599	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:156422599C>A	ENST00000461166.1	+	6	2241	c.1653C>A	c.(1651-1653)gtC>gtA	p.V551V	TIPARP_ENST00000486483.1_Silent_p.V551V|TIPARP_ENST00000542783.1_Silent_p.V551V|TIPARP_ENST00000295924.7_Silent_p.V551V	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	551	PARP catalytic.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ACCCTCGAGTCTGTGGAAAGC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(171;276 1987 3319 6837 11197)							NA				0													165	166	166			NA	NA	3		NA											NA				156422599		2203	4300	6503	SO:0001819	synonymous_variant			BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659	25976	25976		Poly (ADP-ribose) polymerases	23696	protein-coding gene	gene with protein product		612480			NA	12851707	Standard	NM_015508	NM_001184717	NA	Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.1653C>A	3.37:g.156422599C>A		NA	D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	37	CCDS3177.1	.	.	.	.	.	.	.	.	.	.	C	6.045	0.376662	0.11466	.	.	ENSG00000163659	ENST00000495891	.	.	.	5.77	4.85	0.62838	.	.	.	.	.	T	0.72252	0.3437	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70615	-0.4823	4	.	.	.	.	16.9661	0.86286	0.0:0.7817:0.2183:0.0	.	.	.	.	M	254	.	.	L	+	1	2	TIPARP	157905293	0.995000	0.38212	1.000000	0.80357	0.999000	0.98932	0.415000	0.21181	2.726000	0.93360	0.650000	0.86243	CTG	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351618.1		+	ENST00000461166.1	Silent	SNP	3 : 156422599 - 156422599 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1181	190
MDN1	23195	broad.mit.edu	37	6	90417165	90417165	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90417165C>T	ENST00000369393.3	-	52	8044	c.7929G>A	c.(7927-7929)cgG>cgA	p.R2643R	MDN1_ENST00000428876.1_Silent_p.R2643R			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2643					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAGTAAAAACCCGTTTTTCCC	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	123	122			NA	NA	6		NA											NA				90417165		2203	4300	6503	SO:0001819	synonymous_variant			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159	23195	23195			18302	protein-coding gene	gene with protein product					NA	9205841, 12102729	Standard		XM_005248699	NA	Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.7929G>A	6.37:g.90417165C>T		NA	O15019|Q5T794	37	CCDS5024.1																																																																																			MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041514.2		-	ENST00000369393.3	Silent	SNP	6 : 90417165 - 90417165 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	31
TBX18	9096	broad.mit.edu	37	6	85473690	85473690	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:85473690G>A	ENST00000369663.5	-	1	547	c.210C>T	c.(208-210)gaC>gaT	p.D70D		NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	70					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CAGCGCCTTCGTCTCCCTCAG	0.756		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													4	5	5			NA	NA	6		NA											NA				85473690		1979	3992	5971	SO:0001819	synonymous_variant			AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837	9096	9096		T-boxes	11595	protein-coding gene	gene with protein product		604613			NA	9888994, 16688725, 23242162	Standard	NM_001080508	NM_001080508	NA	Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.210C>T	6.37:g.85473690G>A		NA	A2RU13|Q7Z6U4|Q9UJI6	37	CCDS34495.1																																																																																			TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041378.2		-	ENST00000369663.5	Silent	SNP	6 : 85473690 - 85473690 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	73	21
PRAMEF12	390999	broad.mit.edu	37	1	12837595	12837595	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12837595G>A	ENST00000357726.4	+	3	1332	c.1305G>A	c.(1303-1305)gaG>gaA	p.E435E		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	435										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTGGGGCTGAGCTGATGAAGA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	125	124			NA	NA	1		NA											NA				12837595		2203	4300	6503	SO:0001819	synonymous_variant				CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726	390999	390999		-	22125	protein-coding gene	gene with protein product					NA		Standard	XM_372760	NM_001080830	NA	Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.1305G>A	1.37:g.12837595G>A		NA		37	CCDS41254.1																																																																																			PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005457.1		+	ENST00000357726.4	Silent	SNP	1 : 12837595 - 12837595 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	711	65
DDX54	79039	broad.mit.edu	37	12	113599090	113599090	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113599090G>A	ENST00000314045.7	-	19	2425	c.2398C>T	c.(2398-2400)Cga>Tga	p.R800*	DDX54_ENST00000306014.5_Nonsense_Mutation_p.R800*|DDX54_ENST00000549271.1_5'UTR	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	800					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCACGGTCTCGCTTCCCACCT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													194	140	158			NA	NA	12		NA											NA				113599090		2203	4300	6503	SO:0001587	stop_gained			AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064	79039	79039		DEAD-boxes	20084	protein-coding gene	gene with protein product		611665			NA	12466272	Standard	NM_024072	NM_001111322	NA	Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000314045.7:c.2398C>T	12.37:g.113599090G>A	ENSP00000323858:p.Arg800*	NA	Q86YT8|Q9BRZ1	37	CCDS44984.1	.	.	.	.	.	.	.	.	.	.	G	37	6.605751	0.97701	.	.	ENSG00000123064	ENST00000314045;ENST00000306014	.	.	.	4.79	-0.117	0.13551	.	0.233607	0.35291	N	0.003304	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.7572	0.08589	0.0886:0.1214:0.4372:0.3529	.	.	.	.	X	800	.	ENSP00000304072:R800X	R	-	1	2	DDX54	112083473	0.000000	0.05858	0.990000	0.47175	0.597000	0.36814	0.426000	0.21363	0.395000	0.25257	0.491000	0.48974	CGA	DDX54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405374.2		-	ENST00000314045.7	Nonsense_Mutation	SNP	12 : 113599090 - 113599090 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	423	74
CASR	846	broad.mit.edu	37	3	122002933	122002933	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122002933C>T	ENST00000498619.1	+	7	2600	c.2162C>T	c.(2161-2163)cCc>cTc	p.P721L	CASR_ENST00000490131.1_Missense_Mutation_p.P711L|CASR_ENST00000296154.5_Missense_Mutation_p.P711L	NM_001178065.1	NP_001171536	P41180	CASR_HUMAN	calcium-sensing receptor	711					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCCAAGATCCCCACCAGCTTC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	57	59			NA	NA	3		NA											NA				122002933		2203	4300	6503	SO:0001583	missense			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828	846	846		GPCR / Class C : Calcium-sensing receptors	1514	protein-coding gene	gene with protein product	severe neonatal hyperparathyroidism	601199	hypocalciuric hypercalcemia 1	HHC, HHC1	NA	7677761	Standard	NM_000388	NM_000388	NA	Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000498619.1:c.2162C>T	3.37:g.122002933C>T	ENSP00000420194:p.Pro721Leu	NA	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	37	CCDS54632.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373344	0.82573	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.87729	-2.29;-2.29;-2.29	6.04	6.04	0.98038	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95255	0.8461	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95423	0.8509	10	0.87932	D	0	.	19.5674	0.95401	0.0:1.0:0.0:0.0	.	721;711	E7ENE0;P41180	.;CASR_HUMAN	L	711;721;711	ENSP00000418685:P711L;ENSP00000420194:P721L;ENSP00000296154:P711L	ENSP00000296154:P711L	P	+	2	0	CASR	123485623	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.873000	0.98535	0.561000	0.74099	CCC	CASR-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355762.1		+	ENST00000498619.1	Missense_Mutation	SNP	3 : 122002933 - 122002933 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	393	72
PLEC	5339	broad.mit.edu	37	8	144991599	144991599	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144991599C>T	ENST00000322810.4	-	32	12970	c.12801G>A	c.(12799-12801)acG>acA	p.T4267T	PLEC_ENST00000436759.2_Silent_p.T4157T|PLEC_ENST00000527096.1_Silent_p.T4153T|PLEC_ENST00000354589.3_Silent_p.T4130T|PLEC_ENST00000345136.3_Silent_p.T4130T|PLEC_ENST00000356346.3_Silent_p.T4116T|PLEC_ENST00000357649.2_Silent_p.T4134T|PLEC_ENST00000398774.2_Silent_p.T4098T|PLEC_ENST00000354958.2_Silent_p.T4108T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4267	Binding to intermediate filaments (By similarity).|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACTTGGAGGACGTCTTCCGCT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	66	64			NA	NA	8		NA											NA				144991599		2104	4217	6321	SO:0001819	synonymous_variant			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209	5339	5339			9069	protein-coding gene	gene with protein product		601282	plectin 1, intermediate filament binding protein, 500kD, epidermolysis bullosa simplex 1 (Ogna), plectin 1, intermediate filament binding protein 500kDa	EBS1, PLEC1	NA	8633055, 8696340	Standard	NM_000445	XM_005250976	NA	Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12801G>A	8.37:g.144991599C>T		NA	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	37	CCDS43772.1																																																																																			PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383281.1		-	ENST00000322810.4	Silent	SNP	8 : 144991599 - 144991599 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	401	25
PCOLCE	5118	broad.mit.edu	37	7	100201161	100201161	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100201161G>A	ENST00000223061.5	+	2	484	c.204G>A	c.(202-204)acG>acA	p.T68T	PCOLCE-AS1_ENST00000446022.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE_ENST00000496269.1_3'UTR	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	68	CUB 1.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GGACCATAACGGTGAGAAACC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	59	63			NA	NA	7		NA											NA				100201161		2203	4300	6503	SO:0001630	splice_region_variant			L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333	5118	5118			8738	protein-coding gene	gene with protein product	procollagen, type 1, COOH-terminal proteinase enhancer, procollagen C-proteinase enhancer 1	600270			NA	8824813, 9799793	Standard	NM_002593	NM_002593	NA	Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.204+1G>A	7.37:g.100201161G>A		NA	B2R9E1|O14550	37	CCDS5700.1																																																																																			PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345285.1	Silent	+	ENST00000223061.5	Splice_Site	SNP	7 : 100201161 - 100201161 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	205	22
TRAF3IP3	80342	broad.mit.edu	37	1	209935961	209935961	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209935961T>G	ENST00000367024.1	+	4	963	c.447T>G	c.(445-447)ctT>ctG	p.L149L	TRAF3IP3_ENST00000367026.3_Silent_p.L129L|TRAF3IP3_ENST00000367025.3_Silent_p.L149L|TRAF3IP3_ENST00000400959.3_Silent_p.L129L|TRAF3IP3_ENST00000010338.4_Silent_p.L129L			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	149						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CTGGGGGCCTTCCTCCACAGG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	63	63			NA	NA	1		NA											NA				209935961		2203	4300	6503	SO:0001819	synonymous_variant				CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790	80342	80342			30766	protein-coding gene	gene with protein product	TRAF3 interacting Jun N terminal kinase (JNK) activating modulator	608255			NA	14572659	Standard		XR_247044	NA	Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.447T>G	1.37:g.209935961T>G		NA	A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	37	CCDS1490.2																																																																																			TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088734.2		+	ENST00000367024.1	Silent	SNP	1 : 209935961 - 209935961 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	408	69
STAB1	23166	broad.mit.edu	37	3	52550718	52550718	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52550718G>A	ENST00000321725.6	+	41	4373	c.4297G>A	c.(4297-4299)Gac>Aac	p.D1433N		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1433	EGF-like 10.				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)		CTGCGTGCAGGACTCGGCCGG	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	27	26			NA	NA	3		NA											NA				52550718		2202	4299	6501	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.4297G>A	3.37:g.52550718G>A	ENSP00000312946:p.Asp1433Asn	NA	A7E297|Q8IUH0|Q8IUH1|Q93072	37	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.541032	0.00934	.	.	ENSG00000010327	ENST00000321725	T	0.02944	4.1	4.51	1.36	0.22044	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.333636	0.30979	N	0.008492	T	0.01940	0.0061	L	0.32530	0.975	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.49995	-0.8879	10	0.02654	T	1	.	7.1225	0.25453	0.3219:0.0:0.6781:0.0	.	1433	Q9NY15	STAB1_HUMAN	N	1433	ENSP00000312946:D1433N	ENSP00000312946:D1433N	D	+	1	0	STAB1	52525758	0.005000	0.15991	0.098000	0.21074	0.164000	0.22412	1.182000	0.32029	0.033000	0.15463	0.462000	0.41574	GAC	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351380.2		+	ENST00000321725.6	Missense_Mutation	SNP	3 : 52550718 - 52550718 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	190	40
PPP1R26	9858	broad.mit.edu	37	9	138377010	138377010	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138377010C>T	ENST00000356818.2	+	4	1203	c.654C>T	c.(652-654)agC>agT	p.S218S	PPP1R26_ENST00000401470.3_Silent_p.S218S|PPP1R26_ENST00000604351.1_Silent_p.S218S|PPP1R26_ENST00000605660.1_Silent_p.S218S|PPP1R26_ENST00000605286.1_Silent_p.S218S|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	218						nucleolus	protein binding				NA						GTGTGAGCAGCGATGACTCCT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	71	68			NA	NA	9		NA											NA				138377010		2203	4299	6502	SO:0001819	synonymous_variant			AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422	9858	9858		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	29089	protein-coding gene	gene with protein product	DRIM/UTP20 interacting protein, 1A6/DRIM (down-regulated in metastasis) interacting protein	614056	KIAA0649	KIAA0649	NA	9734811, 16053918	Standard	NM_014811	NM_014811	NA	Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.654C>T	9.37:g.138377010C>T		NA	Q86WU0|Q8WVV0|Q9Y4D3	37	CCDS6988.1																																																																																			PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054987.1		+	ENST00000356818.2	Silent	SNP	9 : 138377010 - 138377010 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	729	102
SNAPC1	6617	broad.mit.edu	37	14	62234006	62234006	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:62234006C>T	ENST00000216294.4	+	3	469	c.365C>T	c.(364-366)gCa>gTa	p.A122V	RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	122	SNAPC3-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		CATTTTGATGCAGCTTATATT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(27;223 907 37180 39193 46568)							NA				0													84	85	84			NA	NA	14		NA											NA				62234006		2203	4300	6503	SO:0001583	missense			Z47542	CCDS9755.1	14q22	2008-08-11	2002-08-29		ENSG00000023608	ENSG00000023608	6617	6617			11134	protein-coding gene	gene with protein product		600591	small nuclear RNA activating complex, polypeptide 1, 43kD		NA	9644240	Standard	NM_003082	NM_003082	NA	Approved	SNAP43, PTFgamma	uc001xft.3	Q16533	OTTHUMG00000140343	ENST00000216294.4:c.365C>T	14.37:g.62234006C>T	ENSP00000216294:p.Ala122Val	NA		37	CCDS9755.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.810662	0.50421	.	.	ENSG00000023608	ENST00000216294	.	.	.	5.96	5.08	0.68730	.	0.095752	0.64402	N	0.000001	T	0.45796	0.1360	N	0.20357	0.565	0.46701	D	0.999162	B	0.26120	0.142	B	0.31869	0.137	T	0.34403	-0.9830	9	0.26408	T	0.33	-3.289	15.1923	0.73053	0.0:0.9328:0.0:0.0672	.	122	Q16533	SNPC1_HUMAN	V	122	.	ENSP00000216294:A122V	A	+	2	0	SNAPC1	61303759	1.000000	0.71417	0.997000	0.53966	0.958000	0.62258	4.014000	0.57145	1.533000	0.49186	0.655000	0.94253	GCA	SNAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276976.2		+	ENST00000216294.4	Missense_Mutation	SNP	14 : 62234006 - 62234006 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	87
APOL2	23780	broad.mit.edu	37	22	36623483	36623483	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36623483G>T	ENST00000249066.6	-	6	1457	c.981C>A	c.(979-981)atC>atA	p.I327I	APOL2_ENST00000358502.5_Silent_p.I327I|APOL2_ENST00000451256.2_Silent_p.I439I	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	327					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						GCATCTCATGGATCTTGGTGA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	71	69			NA	NA	22		NA											NA				36623483		2196	4296	6492	SO:0001819	synonymous_variant			AF324224	CCDS43014.1	22q12.3	2013-09-20			ENSG00000128335	ENSG00000128335	23780	23780		Apolipoproteins	619	protein-coding gene	gene with protein product	apolipoprotein L-II	607252			NA	10591208, 11374903	Standard	NM_145637	NM_145637	NA	Approved	APOL-II	uc003apa.3	Q9BQE5	OTTHUMG00000150634	ENST00000249066.6:c.981C>A	22.37:g.36623483G>T		NA	B0QYK7|O95915|Q59GW9|Q5TH96|Q969T6|Q9BT28|Q9UGT1|Q9UH10	37	CCDS43014.1																																																																																			APOL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319279.1		-	ENST00000249066.6	Silent	SNP	22 : 36623483 - 36623483 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	591	102
ABCA2	20	broad.mit.edu	37	9	139904272	139904272	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139904272C>T	ENST00000341511.6	-	43	6628	c.6579G>A	c.(6577-6579)cgG>cgA	p.R2193R	ABCA2_ENST00000265662.5_Silent_p.R2193R|ABCA2_ENST00000371605.3_Silent_p.R2192R	NM_001606.4|NM_212533.2	NP_001597|NP_997698.1	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2192	ABC transporter 2.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGGAGAGCTTCCGCTTGTTGC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	55	52			NA	NA	9		NA											NA				139904272		2189	4291	6480	SO:0001819	synonymous_variant			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331	20	20		ATP binding cassette transporters / subfamily A	32	protein-coding gene	gene with protein product		600047		ABC2	NA	8088782	Standard	NM_001606	NM_212533	NA	Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000341511.6:c.6579G>A	9.37:g.139904272C>T		NA	A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	37	CCDS43909.1																																																																																			ABCA2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055199.2		-	ENST00000341511.6	Silent	SNP	9 : 139904272 - 139904272 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	182	32
VGLL3	389136	broad.mit.edu	37	3	87017995	87017995	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:87017995G>A	ENST00000398399.2	-	3	1045	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	VGLL3_ENST00000383698.3_Missense_Mutation_p.R228W	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial-like family member 3	228	His-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.R228W(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TGGTGGTGCCGCATGTACACG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	breast(1)											92	93	93			NA	NA	3		NA											NA				87017995		2180	4284	6464	SO:0001583	missense			AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538	389136	389136			24327	protein-coding gene	gene with protein product		609980	vestigial like 3 (Drosophila)		NA	12376544	Standard	NM_016206	NM_016206	NA	Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.682C>T	3.37:g.87017995G>A	ENSP00000381436:p.Arg228Trp	NA	D3DU37|Q504T7	37	CCDS43110.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.31|19.31	3.802435|3.802435	0.70682|0.70682	.|.	.|.	ENSG00000206538|ENSG00000206538	ENST00000494229|ENST00000398399;ENST00000383698	.|T;T	.|0.46451	.|0.87;0.88	5.81|5.81	4.89|4.89	0.63831|0.63831	.|.	.|0.396637	.|0.23523	.|N	.|0.047269	T|T	0.28167|0.28167	0.0695|0.0695	N|N	0.22421|0.22421	0.69|0.69	0.26973|0.26973	N|N	0.965531|0.965531	.|P	.|0.51653	.|0.947	.|B	.|0.41299	.|0.353	T|T	0.15464|0.15464	-1.0436|-1.0436	5|10	.|0.62326	.|D	.|0.03	-10.5859|-10.5859	8.5415|8.5415	0.33395|0.33395	0.0749:0.0:0.7388:0.1863|0.0749:0.0:0.7388:0.1863	.|.	.|228	.|A8MV65	.|VGLL3_HUMAN	V|W	161|228	.|ENSP00000381436:R228W;ENSP00000373199:R228W	.|ENSP00000373199:R228W	A|R	-|-	2|1	0|2	VGLL3|VGLL3	87100685|87100685	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.617000|2.617000	0.46385|0.46385	1.291000|1.291000	0.44653|0.44653	0.511000|0.511000	0.50034|0.50034	GCG|CGG	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352805.1		-	ENST00000398399.2	Missense_Mutation	SNP	3 : 87017995 - 87017995 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	449	75
PAX2	5076	broad.mit.edu	37	10	102509561	102509561	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102509561C>T	ENST00000355243.3	+	2	652	c.102C>T	c.(100-102)ccC>ccT	p.P34P	PAX2_ENST00000370296.2_Silent_p.P34P|PAX2_ENST00000428433.1_Silent_p.P34P|PAX2_ENST00000361791.3_Silent_p.P34P|PAX2_ENST00000556085.1_Silent_p.P33P|PAX2_ENST00000553492.1_Intron	NM_000278.3|NM_003989.3	NP_000269|NP_003980.2	Q02962	PAX2_HUMAN	paired box 2	34	Paired.				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		GGCCCCTACCCGACGTGGTGA	0.647		NA											C	0	0	NA	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0	0.05	EXOME	NA	NA	0.001	SNP								NA				0													29	34	32			NA	NA	10		NA											NA				102509561		2197	4296	6493	SO:0001819	synonymous_variant				CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891	5076	5076		Paired boxes, Homeoboxes / PRD class	8616	protein-coding gene	gene with protein product		167409	paired box gene 2		NA	8431641, 7981748	Standard		NM_003990	NA	Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000355243.3:c.102C>T	10.37:g.102509561C>T		NA	Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	37	CCDS41561.1																																																																																			PAX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049868.2		+	ENST00000355243.3	Silent	SNP	10 : 102509561 - 102509561 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	430	77
RBBP9	10741	broad.mit.edu	37	20	18471048	18471048	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18471048G>A	ENST00000337227.4	-	4	400	c.325C>T	c.(325-327)Cgt>Tgt	p.R109C	RBBP9_ENST00000493184.1_Intron	NM_006606.2	NP_006597.2	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9	109						cytoplasm|nucleus	hydrolase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9						CCACTTGCACGCTCATTTTCA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	144	150			NA	NA	20		NA											NA				18471048		2203	4300	6503	SO:0001583	missense			AF039564	CCDS13136.1	20p11.2	2008-08-01	2001-11-28		ENSG00000089050	ENSG00000089050	10741	10741			9892	protein-coding gene	gene with protein product		602908	retinoblastoma-binding protein 9		NA	9697699, 10449909	Standard	NM_006606	NM_006606	NA	Approved	Bog	uc002wqy.3	O75884	OTTHUMG00000031972	ENST00000337227.4:c.325C>T	20.37:g.18471048G>A	ENSP00000336866:p.Arg109Cys	NA	D3DW31|Q5JPH9|Q9H1D8	37	CCDS13136.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799256	0.70567	.	.	ENSG00000089050	ENST00000337227;ENST00000339848	.	.	.	4.96	3.02	0.34903	.	0.290145	0.27554	N	0.018852	T	0.63510	0.2517	M	0.80847	2.515	0.52099	D	0.999947	D	0.71674	0.998	P	0.52454	0.699	T	0.63580	-0.6605	9	0.54805	T	0.06	-0.1625	4.8294	0.13432	0.1751:0.0:0.6562:0.1687	.	109	O75884	RBBP9_HUMAN	C	109	.	ENSP00000336866:R109C	R	-	1	0	RBBP9	18419048	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	2.344000	0.44010	0.803000	0.34113	0.655000	0.94253	CGT	RBBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078175.1		-	ENST00000337227.4	Missense_Mutation	SNP	20 : 18471048 - 18471048 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	290	69
MDN1	23195	broad.mit.edu	37	6	90463339	90463339	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90463339A>G	ENST00000369393.3	-	22	3082	c.2967T>C	c.(2965-2967)ggT>ggC	p.G989G	MDN1_ENST00000428876.1_Silent_p.G989G			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	989					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCAAACAAAAACCCTAGAAAG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	91	91			NA	NA	6		NA											NA				90463339		2203	4300	6503	SO:0001819	synonymous_variant			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159	23195	23195			18302	protein-coding gene	gene with protein product					NA	9205841, 12102729	Standard		XM_005248699	NA	Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.2967T>C	6.37:g.90463339A>G		NA	O15019|Q5T794	37	CCDS5024.1																																																																																			MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041514.2		-	ENST00000369393.3	Silent	SNP	6 : 90463339 - 90463339 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	309	9
C9orf96	0	broad.mit.edu	37	9	136245957	136245957	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136245957G>T	ENST00000371957.3	+	2	245	c.138G>T	c.(136-138)gaG>gaT	p.E46D	C9orf96_ENST00000468046.1_3'UTR|C9orf96_ENST00000426926.2_Missense_Mutation_p.E46D|C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	SGK71_HUMAN		46	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TGGTGGTGGAGGAAATGGAAA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	102	110			NA	NA	9		NA											NA				136245957		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000371957.3:c.138G>T	9.37:g.136245957G>T	ENSP00000361025:p.Glu46Asp	NA	Q5T8U8|Q6ZMP6|Q6ZMQ5	37	CCDS35169.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.248659	0.39797	.	.	ENSG00000198870	ENST00000426926;ENST00000371957	T;T	0.19938	2.11;2.11	3.89	-1.63	0.08345	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.129615	0.31697	U	0.007216	T	0.24236	0.0587	L	0.58669	1.825	0.35834	D	0.825527	D	0.54601	0.967	P	0.50860	0.652	T	0.15009	-1.0452	10	0.48119	T	0.1	-16.8237	7.7812	0.29066	0.5057:0.0:0.4943:0.0	.	46	Q8NE28	SGK71_HUMAN	D	46	ENSP00000398807:E46D;ENSP00000361025:E46D	ENSP00000361025:E46D	E	+	3	2	C9orf96	135235778	0.013000	0.17824	0.249000	0.24280	0.516000	0.34256	0.394000	0.20834	-0.571000	0.06014	-0.657000	0.03884	GAG	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054855.1		+	ENST00000371957.3	Missense_Mutation	SNP	9 : 136245957 - 136245957 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	221	9
VWF	7450	broad.mit.edu	37	12	6232045	6232045	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6232045C>A	ENST00000545906.1	-	0	571				VWF_ENST00000572068.1_Missense_Mutation_p.Q4H|VWF_ENST00000261405.5_Intron			P04275	VWF_HUMAN	von Willebrand factor	NA					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCTCCTCATCCTGTGCCCCCA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	119	121			NA	NA	12		NA											NA				6232045		876	1991	2867	SO:0001623	5_prime_UTR_variant				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799	7450	7450		Endogenous ligands	12726	protein-coding gene	gene with protein product		613160		F8VWF	NA	2251280	Standard	NM_000552	NM_000552	NA	Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000545906.1:c.-174G>T	12.37:g.6232045C>A		NA	Q99806	37																																																																																				VWF-004	PUTATIVE	basic	processed_transcript	NA	protein_coding	OTTHUMT00000399026.1		-	ENST00000545906.1	5'UTR	SNP	12 : 6232045 - 6232045 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	441	71
ACHE	43	broad.mit.edu	37	7	100491402	100491402	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100491402C>A	ENST00000302913.4	-	2	590	c.452G>T	c.(451-453)gGg>gTg	p.G151V	ACHE_ENST00000241069.5_Missense_Mutation_p.G151V|ACHE_ENST00000412389.1_Missense_Mutation_p.G151V|ACHE_ENST00000411582.1_Missense_Mutation_p.G151V|ACHE_ENST00000419336.2_Missense_Mutation_p.G151V|ACHE_ENST00000428317.1_Missense_Mutation_p.G151V	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	151					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	GAAGCCACCCCCATAGATCCA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	82	81			NA	NA	7		NA											NA				100491402		2203	4300	6503	SO:0001583	missense				CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	43	43	3.1.1.7	Blood group antigens	108	protein-coding gene	gene with protein product	Yt blood group	100740	acetylcholinesterase (YT blood group), acetylcholinesterase (Yt blood group), acetylcholinesterase	YT	NA	1380483	Standard	NM_015831	XM_005250357	NA	Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000302913.4:c.452G>T	7.37:g.100491402C>A	ENSP00000303211:p.Gly151Val	NA	A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	37	CCDS5710.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079176	0.76528	.	.	ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000426415;ENST00000430554;ENST00000411582;ENST00000422451;ENST00000441605	D;D;D;D;D;D;D;D;D	0.86097	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-2.07	5.45	4.56	0.56223	Carboxylesterase, type B (1);	0.050345	0.85682	D	0.000000	D	0.95114	0.8417	H	0.98487	4.245	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.95826	0.8854	10	0.87932	D	0	.	11.8685	0.52507	0.0:0.9137:0.0:0.0863	.	151;151;151;151	B7WPI6;P22303-3;P22303-2;P22303	.;.;.;ACES_HUMAN	V	151	ENSP00000403474:G151V;ENSP00000241069:G151V;ENSP00000414858:G151V;ENSP00000303211:G151V;ENSP00000394976:G151V;ENSP00000397143:G151V;ENSP00000399725:G151V;ENSP00000404865:G151V;ENSP00000396360:G151V	ENSP00000241069:G151V	G	-	2	0	ACHE	100329338	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.560000	0.82277	1.274000	0.44362	0.561000	0.74099	GGG	ACHE-201	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347191.1		-	ENST00000302913.4	Missense_Mutation	SNP	7 : 100491402 - 100491402 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	648	135
USP16	10600	broad.mit.edu	37	21	30419159	30419159	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30419159G>A	ENST00000334352.4	+	15	1759	c.1528G>A	c.(1528-1530)Gtc>Atc	p.V510I	USP16_ENST00000535828.1_Missense_Mutation_p.V139I|USP16_ENST00000399975.3_Missense_Mutation_p.V509I|USP16_ENST00000399976.2_Missense_Mutation_p.V510I	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	510					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						AGAATATTGTGTCAACCAGAA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(92;625 1444 27493 34101 44971)							NA				0													70	68	69			NA	NA	21		NA											NA				30419159		2203	4300	6503	SO:0001583	missense			AF126736	CCDS13583.1, CCDS42912.1	21q21	2008-04-11	2005-08-08		ENSG00000156256	ENSG00000156256	NA	10600		Ubiquitin-specific peptidases	12614	protein-coding gene	gene with protein product		604735	ubiquitin specific protease 16		NA	12838346	Standard		NM_006447	NA	Approved	Ubp-M	uc002ymy.3	Q9Y5T5	OTTHUMG00000078802	ENST00000334352.4:c.1528G>A	21.37:g.30419159G>A	ENSP00000334808:p.Val510Ile	NA	A8MU43|B3KN13|B4DFV8|B4DY37|D3DSD9|Q53GP7|Q53HA0|Q5VKN8|Q8NEL3|Q9H3E6	37	CCDS13583.1	.	.	.	.	.	.	.	.	.	.	G	6.599	0.478861	0.12581	.	.	ENSG00000156256	ENST00000399975;ENST00000399976;ENST00000334352;ENST00000535828	T;T;T;T	0.32272	3.4;3.39;3.39;1.46	5.08	0.955	0.19602	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.536420	0.03185	N	0.172530	T	0.14141	0.0342	N	0.01874	-0.695	0.09310	N	1	B;B;B;B	0.31351	0.32;0.167;0.102;0.125	B;B;B;B	0.34301	0.179;0.085;0.086;0.14	T	0.19679	-1.0298	10	0.34782	T	0.22	.	5.4608	0.16615	0.322:0.0:0.5127:0.1653	.	139;495;509;510	B4DUS4;Q9Y5T5-3;Q9Y5T5-2;Q9Y5T5	.;.;.;UBP16_HUMAN	I	509;510;510;139	ENSP00000382857:V509I;ENSP00000382858:V510I;ENSP00000334808:V510I;ENSP00000442855:V139I	ENSP00000334808:V510I	V	+	1	0	USP16	29341030	0.019000	0.18553	0.327000	0.25402	0.225000	0.24961	0.373000	0.20484	0.342000	0.23796	-0.749000	0.03505	GTC	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000171847.1		+	ENST00000334352.4	Missense_Mutation	SNP	21 : 30419159 - 30419159 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	328	28
GNPDA1	10007	broad.mit.edu	37	5	141384546	141384546	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141384546G>A	ENST00000513454.1	-	5	583	c.545C>T	c.(544-546)cCc>cTc	p.P182L	GNPDA1_ENST00000508177.1_Missense_Mutation_p.P182L|GNPDA1_ENST00000542860.1_Missense_Mutation_p.P105L|GNPDA1_ENST00000458112.2_Missense_Mutation_p.P148L|GNPDA1_ENST00000500692.2_Missense_Mutation_p.P182L|GNPDA1_ENST00000503794.1_Missense_Mutation_p.P182L|GNPDA1_ENST00000311337.6_Missense_Mutation_p.P182L			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	182					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCATGGTGGGCACCTTGGT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	41	43			NA	NA	5		NA											NA				141384546		2203	4300	6503	SO:0001583	missense			AF048826	CCDS4272.1	5q21	2008-02-05	2003-10-17	2003-10-22	ENSG00000113552	ENSG00000113552	10007	10007	3.5.99.6		4417	protein-coding gene	gene with protein product	glucosamine-6-phosphate deaminase, oscillin	601798	glucosamine-6-phosphate isomerase	GNPI	NA	9714720, 9438414	Standard	NM_005471	NM_005471	NA	Approved	GNPDA, HLN, GPI, KIAA0060	uc010jgh.3	P46926	OTTHUMG00000129657	ENST00000513454.1:c.545C>T	5.37:g.141384546G>A	ENSP00000423494:p.Pro182Leu	NA	D3DQE7	37		.	.	.	.	.	.	.	.	.	.	G	34	5.395760	0.96009	.	.	ENSG00000113552	ENST00000513454;ENST00000311337;ENST00000458112;ENST00000500692;ENST00000508177;ENST00000503794;ENST00000542860;ENST00000505689	T;T;T;T;T;T;T;T	0.81247	-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-1.47;-0.86	5.84	5.84	0.93424	Glucosamine/galactosamine-6-phosphate isomerase (1);	0.000000	0.85682	D	0.000000	D	0.94258	0.8156	H	0.98155	4.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95723	0.8768	10	0.87932	D	0	-14.6887	20.1187	0.97949	0.0:0.0:1.0:0.0	.	148;182	E7EVU7;P46926	.;GNPI1_HUMAN	L	182;182;148;182;182;182;105;203	ENSP00000423494:P182L;ENSP00000311876:P182L;ENSP00000387718:P148L;ENSP00000424275:P182L;ENSP00000423674:P182L;ENSP00000423485:P182L;ENSP00000445143:P105L;ENSP00000421524:P203L	ENSP00000311876:P182L	P	-	2	0	GNPDA1	141364730	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.476000	0.97823	2.767000	0.95098	0.591000	0.81541	CCC	GNPDA1-013	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000370641.1		-	ENST00000513454.1	Missense_Mutation	SNP	5 : 141384546 - 141384546 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	117	17
AFG3L2	10939	broad.mit.edu	37	18	12358738	12358738	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12358738C>A	ENST00000269143.3	-	8	1188	c.957G>T	c.(955-957)gaG>gaT	p.E319D		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	319					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	ATTCCATGATCTCTAGCTTGG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	80	83			NA	NA	18		NA											NA				12358738		2203	4300	6503	SO:0001583	missense			Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385	10939	10939		ATPases / AAA-type	315	protein-coding gene	gene with protein product		604581	AFG3 (ATPase family gene 3, yeast)-like 2, spinocerebellar ataxia 28, AFG3 ATPase family gene 3-like 2 (yeast), AFG3 ATPase family gene 3-like 2 (S. cerevisiae), AFG3 ATPase family member 3-like 2 (S. cerevisiae)	SCA28	NA	10395799, 18769991	Standard	NM_006796	NM_006796	NA	Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.957G>T	18.37:g.12358738C>A	ENSP00000269143:p.Glu319Asp	NA	Q6P1L0	37	CCDS11859.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179849	0.57800	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	T	0.57107	0.42	5.76	0.779	0.18550	Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	T	0.51550	0.1681	M	0.80183	2.485	0.58432	D	0.999997	P	0.37864	0.61	B	0.36534	0.227	T	0.55398	-0.8147	10	0.87932	D	0	.	10.1341	0.42695	0.0:0.6623:0.0:0.3377	.	319	Q9Y4W6	AFG32_HUMAN	D	319;334	ENSP00000269143:E319D	ENSP00000269143:E319D	E	-	3	2	AFG3L2	12348738	0.998000	0.40836	0.988000	0.46212	0.984000	0.73092	0.611000	0.24268	0.069000	0.16605	0.655000	0.94253	GAG	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254603.2		-	ENST00000269143.3	Missense_Mutation	SNP	18 : 12358738 - 12358738 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	336	70
MTFR1L	56181	broad.mit.edu	37	1	26150190	26150190	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26150190G>T	ENST00000526894.1	+	3	217	c.80G>T	c.(79-81)aGa>aTa	p.R27I	MTFR1L_ENST00000466284.1_Missense_Mutation_p.R27I|MTFR1L_ENST00000474295.1_Missense_Mutation_p.R27I|RP1-317E23.6_ENST00000527604.1_3'UTR|MTFR1L_ENST00000469815.1_3'UTR|MTFR1L_ENST00000524618.1_5'UTR|MTFR1L_ENST00000374300.3_Missense_Mutation_p.R27I|MTFR1L_ENST00000374301.3_Missense_Mutation_p.R27I|MTFR1L_ENST00000374307.5_Missense_Mutation_p.R27I|MTFR1L_ENST00000374303.2_Missense_Mutation_p.R27I					mitochondrial fission regulator 1-like	NA											NA						GTAGTAAGAAGAATTGGGACC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	64	63			NA	NA	1		NA											NA				26150190		2029	4193	6222	SO:0001583	missense				CCDS41284.1, CCDS44089.1	1p36.11	2012-11-30	2012-11-29	2012-11-29	ENSG00000117640	ENSG00000117640	56181	56181			28836	protein-coding gene	gene with protein product			family with sequence similarity 54, member B	FAM54B	NA	8619474, 9110174	Standard	NM_019557	NM_019557	NA	Approved		uc001bkq.4	Q9H019	OTTHUMG00000007377	ENST00000526894.1:c.80G>T	1.37:g.26150190G>T	ENSP00000432227:p.Arg27Ile	NA		37		.	.	.	.	.	.	.	.	.	.	G	16.88	3.245906	0.59103	.	.	ENSG00000117640	ENST00000424294;ENST00000374303;ENST00000529116;ENST00000474295;ENST00000526894;ENST00000374307;ENST00000525713;ENST00000374301;ENST00000526158;ENST00000374300;ENST00000466284	T;T;T;T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.40297	0.1111	N	0.25890	0.77	0.80722	D	1	P;B;B;B	0.48640	0.913;0.017;0.264;0.021	P;B;B;B	0.52109	0.69;0.02;0.082;0.023	T	0.04454	-1.0950	10	0.14252	T	0.57	-2.9228	15.1749	0.72903	0.0:0.0:0.8589:0.1411	.	60;27;27;27	B4DRE5;Q9H019-3;Q9H019-2;Q9H019	.;.;.;FA54B_HUMAN	I	27	ENSP00000390841:R27I;ENSP00000363421:R27I;ENSP00000434038:R27I;ENSP00000435461:R27I;ENSP00000432227:R27I;ENSP00000363426:R27I;ENSP00000434120:R27I;ENSP00000363419:R27I;ENSP00000431278:R27I;ENSP00000363418:R27I;ENSP00000434751:R27I	ENSP00000363418:R27I	R	+	2	0	FAM54B	26022777	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.974000	0.70465	2.677000	0.91161	0.561000	0.74099	AGA	MTFR1L-017	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000393349.1		+	ENST00000526894.1	Missense_Mutation	SNP	1 : 26150190 - 26150190 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	15
CACNB2	783	broad.mit.edu	37	10	18807857	18807857	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18807857A>C	ENST00000396576.2	+	8	1240	c.739A>C	c.(739-741)Aaa>Caa	p.K247Q	CACNB2_ENST00000282343.8_Missense_Mutation_p.K274Q|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000377315.4_Missense_Mutation_p.K254Q|CACNB2_ENST00000377319.3_Missense_Mutation_p.K209Q|CACNB2_ENST00000352115.6_Missense_Mutation_p.K278Q|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377331.2_Missense_Mutation_p.K250Q|CACNB2_ENST00000324631.7_Missense_Mutation_p.K302Q|CACNB2_ENST00000377329.4_Missense_Mutation_p.K248Q	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	302					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TATGATGCAAAAAGCGCTGTT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	150	150			NA	NA	10		NA											NA				18807857		2203	4300	6503	SO:0001583	missense			U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995	783	783		Calcium channel subunits	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2	NA	9254841, 8494331	Standard	NM_000724	NM_201596	NA	Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000396576.2:c.739A>C	10.37:g.18807857A>C	ENSP00000379821:p.Lys247Gln	NA	A6PVM5|A6PVM8|O00304|Q5VVG9|Q5VVH0|Q5VWV6|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	37	CCDS7128.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.694579	0.88830	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;D;D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	5.3	5.3	0.74995	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	D	0.92948	0.7756	M	0.87269	2.87	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999;0.999;0.999;1.0;0.998;0.999;1.0;0.998;0.999;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.998;0.999;0.999;0.996;0.999;0.995;0.999;0.991;0.999;0.998;0.991;0.998;0.999	D	0.94080	0.7343	10	0.87932	D	0	-22.4243	14.3496	0.66691	1.0:0.0:0.0:0.0	.	216;216;248;274;254;224;248;258;209;250;274;264;278;302	B7Z1U5;B7Z2U3;Q5QJ99;Q5QJA0;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	Q	302;278;274;250;247;209;248;254	ENSP00000320025:K302Q;ENSP00000344474:K278Q;ENSP00000282343:K274Q;ENSP00000366548:K250Q;ENSP00000379821:K247Q;ENSP00000366536:K209Q;ENSP00000366546:K248Q;ENSP00000366532:K254Q	ENSP00000282343:K274Q	K	+	1	0	CACNB2	18847863	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	8.838000	0.92115	2.137000	0.66172	0.528000	0.53228	AAA	CACNB2-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047074.2		+	ENST00000396576.2	Missense_Mutation	SNP	10 : 18807857 - 18807857 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	735	125
MYH10	4628	broad.mit.edu	37	17	8380302	8380302	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8380302G>A	ENST00000360416.3	-	42	5909	c.5771C>T	c.(5770-5772)gCg>gTg	p.A1924V	NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000379980.4_Missense_Mutation_p.A1909V|MYH10_ENST00000269243.4_Missense_Mutation_p.A1893V|MYH10_ENST00000396239.1_Missense_Mutation_p.A1914V	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1893					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GGCACGCGTCGCTTCTTCTTC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	72	76			NA	NA	17		NA											NA				8380302		2203	4300	6503	SO:0001583	missense			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026	4628	4628		Myosins / Myosin superfamily : Class II	7568	protein-coding gene	gene with protein product		160776	myosin, heavy polypeptide 10, non-muscle		NA	1860190	Standard		NM_001256012	NA	Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000360416.3:c.5771C>T	17.37:g.8380302G>A	ENSP00000353590:p.Ala1924Val	NA	Q12989|Q149N3|Q16087	37	CCDS58515.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685413	0.68157	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	4.95	4.95	0.65309	Myosin tail (1);	0.000000	0.85682	D	0.000000	T	0.76133	0.3945	L	0.49778	1.585	0.80722	D	1	B;B;B	0.27791	0.189;0.157;0.189	B;B;B	0.31245	0.126;0.077;0.126	T	0.75923	-0.3146	10	0.66056	D	0.02	.	18.3181	0.90227	0.0:0.0:1.0:0.0	.	1902;1924;1893	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	V	1893;1924;1914;1909	ENSP00000269243:A1893V;ENSP00000353590:A1924V;ENSP00000379539:A1914V;ENSP00000369315:A1909V	ENSP00000269243:A1893V	A	-	2	0	MYH10	8321027	1.000000	0.71417	0.988000	0.46212	0.786000	0.44442	7.746000	0.85057	2.712000	0.92718	0.655000	0.94253	GCG	MYH10-002	PUTATIVE	not_organism_supported|not_organism_supported|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258891.1		-	ENST00000360416.3	Missense_Mutation	SNP	17 : 8380302 - 8380302 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	69
DOPEY2	9980	broad.mit.edu	37	21	37617780	37617780	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37617780G>A	ENST00000399151.3	+	19	3587	c.3502G>A	c.(3502-3504)Gaa>Aaa	p.E1168K		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1168					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTTCCAGTCAGAAAGCTTCAA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	40	38			NA	NA	21		NA											NA				37617780		2203	4300	6503	SO:0001583	missense			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197	9980	9980			1291	protein-coding gene	gene with protein product		604803	chromosome 21 open reading frame 5	C21orf5	NA	16301316, 16303751, 10931277	Standard	NM_005128	NM_005128	NA	Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.3502G>A	21.37:g.37617780G>A	ENSP00000382104:p.Glu1168Lys	NA	D3DSG5|Q6PJQ7|Q9UEZ3	37	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	G	6.407	0.443183	0.12164	.	.	ENSG00000142197	ENST00000399151	T	0.32988	1.43	4.61	3.65	0.41850	.	0.412728	0.20393	N	0.093212	T	0.18130	0.0435	L	0.36672	1.1	0.09310	N	1	B;B	0.32753	0.383;0.265	B;B	0.26770	0.073;0.033	T	0.11916	-1.0568	10	0.10111	T	0.7	.	9.0698	0.36486	0.0813:0.1495:0.7692:0.0	.	1168;1168	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	K	1168	ENSP00000382104:E1168K	ENSP00000382104:E1168K	E	+	1	0	DOPEY2	36539650	0.790000	0.28787	0.010000	0.14722	0.014000	0.08584	2.759000	0.47573	2.575000	0.86900	0.650000	0.86243	GAA	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000194636.1		+	ENST00000399151.3	Missense_Mutation	SNP	21 : 37617780 - 37617780 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	67
MKI67	4288	broad.mit.edu	37	10	129905311	129905311	+	Missense_Mutation	SNP	C	C	T	rs78597473		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129905311C>T	ENST00000368654.3	-	13	5168	c.4793G>A	c.(4792-4794)cGa>cAa	p.R1598Q	MKI67_ENST00000368653.3_Missense_Mutation_p.R1238Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1598	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGTGTGACCTCGTGTCTGGAA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													190	184	186			NA	NA	10		NA											NA				129905311		2203	4300	6503	SO:0001583	missense			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773	4288	4288			7107	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 105	176741	antigen identified by monoclonal antibody Ki-67		NA	2571566, 16206250	Standard	NM_002417	NM_002417	NA	Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4793G>A	10.37:g.129905311C>T	ENSP00000357643:p.Arg1598Gln	NA	Q5VWH2	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968281	0.34754	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02103	4.45;4.45	3.07	2.16	0.27623	.	0.251885	0.26349	N	0.024891	T	0.01454	0.0047	N	0.08118	0	0.21445	N	0.999688	B;B;B	0.11235	0.001;0.004;0.002	B;B;B	0.04013	0.0;0.001;0.001	T	0.48502	-0.9030	10	0.30854	T	0.27	.	11.0914	0.48119	0.0:0.1897:0.8103:0.0	.	1597;1238;1598	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	Q	1598;1238;1597	ENSP00000357643:R1598Q;ENSP00000357642:R1238Q	ENSP00000357642:R1238Q	R	-	2	0	MKI67	129795301	0.211000	0.23529	0.105000	0.21289	0.025000	0.11179	1.344000	0.33941	0.893000	0.36288	-0.226000	0.12346	CGA	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050999.1		-	ENST00000368654.3	Missense_Mutation	SNP	10 : 129905311 - 129905311 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1203	242
NCAM2	4685	broad.mit.edu	37	21	22849626	22849626	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22849626C>T	ENST00000400546.1	+	15	2160	c.1911C>T	c.(1909-1911)gaC>gaT	p.D637D	NCAM2_ENST00000284894.7_Silent_p.D495D	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	637	Fibronectin type-III 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ATAAGGAAGACCAATGGCTAG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	79	81			NA	NA	21		NA											NA				22849626		1832	4092	5924	SO:0001819	synonymous_variant				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654	4685	4685		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	7657	protein-coding gene	gene with protein product		602040			NA	9226371	Standard	NM_004540	NM_004540	NA	Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1911C>T	21.37:g.22849626C>T		NA	A8MQ06|Q7Z7F2	37	CCDS42910.1																																																																																			NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000170915.1		+	ENST00000400546.1	Silent	SNP	21 : 22849626 - 22849626 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	310	61
ELFN2	114794	broad.mit.edu	37	22	37771157	37771157	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37771157C>T	ENST00000402918.2	-	3	1203	c.418G>A	c.(418-420)Gag>Aag	p.E140K	RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	NA						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GTCACCACCTCGATGAGGTTG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	87	89			NA	NA	22		NA											NA				37771157		2203	4300	6503	SO:0001583	missense			BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897	114794	114794		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Fibronectin type III domain containing	29396	protein-coding gene	gene with protein product			leucine rich repeat containing 62, extracellular leucine-rich repeat and fibronectin type III containing 2, extracellular leucine-rich repeat and fibronectin type III domain containing 2, protein phosphatase 1, regulatory subunit 29	LRRC62, PPP1R29	NA	17868438	Standard	NM_052906	XR_244427	NA	Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.418G>A	22.37:g.37771157C>T	ENSP00000385277:p.Glu140Lys	NA	Q96PY3	37	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.197923	0.58126	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.52295	0.67;0.67	4.51	3.49	0.39957	.	0.056392	0.64402	D	0.000002	T	0.53351	0.1791	L	0.33293	1	0.58432	D	0.999997	D	0.69078	0.997	D	0.63283	0.913	T	0.56001	-0.8051	10	0.62326	D	0.03	-24.9669	12.7421	0.57259	0.0:0.9189:0.0:0.0811	.	140	Q5R3F8	PPR29_HUMAN	K	140	ENSP00000300147:E140K;ENSP00000385277:E140K	ENSP00000300147:E140K	E	-	1	0	ELFN2	36101103	1.000000	0.71417	0.996000	0.52242	0.626000	0.37791	7.709000	0.84645	1.042000	0.40150	-0.346000	0.07831	GAG	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318900.2		-	ENST00000402918.2	Missense_Mutation	SNP	22 : 37771157 - 37771157 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	662	129
RBM22	55696	broad.mit.edu	37	5	150076139	150076139	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150076139G>A	ENST00000199814.4	-	6	622	c.501C>T	c.(499-501)ttC>ttT	p.F167F	RBM22_ENST00000540000.1_Silent_p.F118F|RBM22_ENST00000447771.2_Silent_p.F118F	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	167					protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTTCACCCAGAAGGAGCAAA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	125	127			NA	NA	5		NA											NA				150076139		2203	4300	6503	SO:0001819	synonymous_variant			AL136933	CCDS34278.1	5q33.1	2013-02-12			ENSG00000086589	ENSG00000086589	55696	55696		Zinc fingers, CCCH-type domain containing, RNA binding motif (RRM) containing	25503	protein-coding gene	gene with protein product	functional spliceosome-associated protein 47	612430			NA	20013661, 19133299	Standard	NM_018047	NM_018047	NA	Approved	FLJ10290, ZC3H16, fSAP47, Cwc2	uc031slu.1	Q9NW64	OTTHUMG00000163589	ENST00000199814.4:c.501C>T	5.37:g.150076139G>A		NA	A6NDM5|B4DLI9|O95607	37	CCDS34278.1																																																																																			RBM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374431.2		-	ENST00000199814.4	Silent	SNP	5 : 150076139 - 150076139 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	723	56
FZD10	11211	broad.mit.edu	37	12	130648444	130648444	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130648444C>T	ENST00000539839.1	+	1	1441	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	FZD10_ENST00000229030.4_Silent_p.F319F	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.F319F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TCTACTACTTCGGCATGGCCA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	endometrium(1)											61	56	58			NA	NA	12		NA											NA				130648444		2203	4300	6503	SO:0001583	missense			AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432	11211	11211		GPCR / Class F : Frizzled receptors, CD molecules	4039	protein-coding gene	gene with protein product		606147	frizzled (Drosophila) homolog 10, frizzled homolog 10 (Drosophila), frizzled 10, seven transmembrane spanning receptor, frizzled family receptor 10		NA	10448064	Standard		NM_007197	NA	Approved	CD350	uc001uii.3	Q9ULW2		ENST00000539839.1:c.859C>T	12.37:g.130648444C>T	ENSP00000438460:p.Arg287Trp	NA		37		.	.	.	.	.	.	.	.	.	.	C	9.414	1.081154	0.20309	.	.	ENSG00000111432	ENST00000539839	.	.	.	5.1	0.604	0.17547	.	.	.	.	.	T	0.64011	0.2560	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65084	-0.6254	5	0.87932	D	0	.	9.8296	0.40932	0.0:0.53:0.0:0.47	.	.	.	.	W	287	.	ENSP00000438460:R287W	R	+	1	2	FZD10	129214397	0.978000	0.34361	1.000000	0.80357	0.984000	0.73092	0.155000	0.16362	0.187000	0.20147	-0.254000	0.11334	CGG	FZD10-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000399508.1		+	ENST00000539839.1	Missense_Mutation	SNP	12 : 130648444 - 130648444 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	328	14
ADAMTS7	11173	broad.mit.edu	37	15	79059359	79059359	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79059359C>T	ENST00000388820.4	-	19	3104	c.2894G>A	c.(2893-2895)cGa>cAa	p.R965Q	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	965	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GAGGACATTTCGGCGCTGAGT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	41	40			NA	NA	15		NA											NA				79059359		2186	4270	6456	SO:0001583	missense			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378	11173	11173		ADAM metallopeptidases with thrombospondin type 1 motif	223	protein-coding gene	gene with protein product	COMPase, a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein	605009	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7		NA	10464288	Standard	NM_014272	NM_014272	NA	Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2894G>A	15.37:g.79059359C>T	ENSP00000373472:p.Arg965Gln	NA	Q14F51|Q6P7J9	37	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789121	0.70337	.	.	ENSG00000136378	ENST00000388820	T	0.80738	-1.41	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000001	D	0.92463	0.7607	H	0.94964	3.605	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.94661	0.7848	10	0.87932	D	0	.	16.4908	0.84200	0.0:1.0:0.0:0.0	.	965	Q9UKP4	ATS7_HUMAN	Q	965	ENSP00000373472:R965Q	ENSP00000373472:R965Q	R	-	2	0	ADAMTS7	76846414	1.000000	0.71417	0.048000	0.18961	0.073000	0.16967	5.370000	0.66144	2.214000	0.71695	0.579000	0.79373	CGA	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421331.1		-	ENST00000388820.4	Missense_Mutation	SNP	15 : 79059359 - 79059359 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	380	86
DRGX	644168	broad.mit.edu	37	10	50574348	50574348	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50574348C>T	ENST00000374139.2	-	6	615	c.605G>A	c.(604-606)cGc>cAc	p.R202H	DRGX_ENST00000434016.1_Missense_Mutation_p.R207H			C9JW76	C9JW76_HUMAN	dorsal root ganglia homeobox	207					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GCTGGCCGTGCGGTTACTCTG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	55	52			NA	NA	10		NA											NA				50574348		2113	4216	6329	SO:0001583	missense				CCDS44388.1, CCDS44388.2	10q11.23	2011-06-20	2007-07-26	2007-07-26	ENSG00000165606	ENSG00000165606	644168	644168		Homeoboxes / PRD class	21536	protein-coding gene	gene with protein product	paired-like homeodomain trancription factor DRG11	606701	paired related homeobox-like 1	PRRXL1	NA	7496632	Standard	XM_060970	NM_001276451	NA	Approved	DRG11	uc021pqd.2	A6NNA5	OTTHUMG00000018192	ENST00000374139.2:c.605G>A	10.37:g.50574348C>T	ENSP00000363254:p.Arg202His	NA		37		.	.	.	.	.	.	.	.	.	.	C	34	5.366093	0.95900	.	.	ENSG00000165606	ENST00000374139;ENST00000434016	D;D	0.96554	-4.05;-4.05	5.54	5.54	0.83059	.	0.107337	0.64402	D	0.000003	D	0.96725	0.8931	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97860	1.0280	10	0.87932	D	0	.	19.4819	0.95013	0.0:1.0:0.0:0.0	.	207	C9JW76	.	H	202;207	ENSP00000363254:R202H;ENSP00000401653:R207H	ENSP00000363254:R202H	R	-	2	0	DRGX	50244354	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.746000	0.68681	2.595000	0.87683	0.655000	0.94253	CGC	DRGX-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000047987.2		-	ENST00000374139.2	Missense_Mutation	SNP	10 : 50574348 - 50574348 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	501	106
NUDT14	256281	broad.mit.edu	37	14	105643299	105643299	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105643299C>T	ENST00000392568.2	-	3	284		c.e3+1		RP11-44N21.4_ENST00000548203.1_RNA	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14	NA						cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity			cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GCTGGCCTCACCTGGCCGGAA	0.612		NA								HNSCC(42;0.11)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	33	35			NA	NA	14		NA											NA				105643299		2193	4289	6482	SO:0001630	splice_region_variant			AB087802	CCDS10000.1	14q32.33	2013-02-15			ENSG00000183828	ENSG00000183828	256281	256281		Nudix motif containing	20141	protein-coding gene	gene with protein product		609219			NA	12429023	Standard	NM_177533	NM_177533	NA	Approved	UGPP	uc010tyn.3	O95848	OTTHUMG00000170372	ENST00000392568.2:c.190+1G>A	14.37:g.105643299C>T		NA	Q86SJ8	37	CCDS10000.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947373	0.73672	.	.	ENSG00000183828	ENST00000392568;ENST00000535832	.	.	.	3.99	3.99	0.46301	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8587	0.52453	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NUDT14	104714344	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.518000	0.67068	2.506000	0.84524	0.655000	0.94253	.	NUDT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000074544.4	Intron	-	ENST00000392568.2	Splice_Site	SNP	14 : 105643299 - 105643299 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	106	16
KIAA0895L	653319	broad.mit.edu	37	16	67214084	67214084	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67214084G>A	ENST00000290881.7	-	3	1356	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	KIAA0895L_ENST00000563902.1_Missense_Mutation_p.R144W|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.R144W|KIAA0895L_ENST00000563831.2_Intron			Q68EN5	K895L_HUMAN	KIAA0895-like	144										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						TTGGTTGGCCGCAGGGCCACC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	98	96			NA	NA	16		NA											NA				67214084		1979	4158	6137	SO:0001583	missense			AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123	653319	653319			34408	protein-coding gene	gene with protein product					NA		Standard	NM_001040715	NM_001040715	NA	Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.430C>T	16.37:g.67214084G>A	ENSP00000290881:p.Arg144Trp	NA	A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	37	CCDS42177.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.581171	0.65992	.	.	ENSG00000196123	ENST00000290881	.	.	.	4.92	2.76	0.32466	.	0.000000	0.85682	D	0.000000	T	0.69602	0.3129	L	0.58101	1.795	0.48288	D	0.99962	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.72551	-0.4259	9	0.87932	D	0	-22.2723	11.5454	0.50690	0.0:0.0:0.6661:0.3339	.	144;144	Q68EN5-2;Q68EN5	.;K895L_HUMAN	W	144	.	ENSP00000290881:R144W	R	-	1	2	KIAA0895L	65771585	0.001000	0.12720	1.000000	0.80357	0.986000	0.74619	0.174000	0.16743	1.245000	0.43885	0.555000	0.69702	CGG	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421193.4		-	ENST00000290881.7	Missense_Mutation	SNP	16 : 67214084 - 67214084 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	472	32
MRPL37	51253	broad.mit.edu	37	1	54670848	54670848	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54670848G>A	ENST00000605337.1	+	2	552	c.504G>A	c.(502-504)gaG>gaA	p.E168E	MRPL37_ENST00000360840.5_Silent_p.E168E|MRPL37_ENST00000487096.1_3'UTR|MRPL37_ENST00000336230.6_Intron			Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	168					translation	mitochondrial ribosome	structural constituent of ribosome			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						AGACCACTGAGGAAATCCCCA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	91	92			NA	NA	1		NA											NA				54670848		2203	4300	6503	SO:0001819	synonymous_variant			AB051344	CCDS589.1	1p32.1	2012-09-13			ENSG00000116221	ENSG00000116221	51253	51253		Mitochondrial ribosomal proteins / large subunits	14034	protein-coding gene	gene with protein product		611843			NA	10600119	Standard	NM_016491	NM_016491	NA	Approved	RPML2, MRP-L2	uc001cxa.4	Q9BZE1	OTTHUMG00000008118	ENST00000605337.1:c.504G>A	1.37:g.54670848G>A		NA	Q96Q67|Q9BWR1|Q9P0P3	37																																																																																				MRPL37-005	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000468412.1		+	ENST00000605337.1	Silent	SNP	1 : 54670848 - 54670848 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	391	82
FAM173B	134145	broad.mit.edu	37	5	10236629	10236629	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10236629C>T	ENST00000511437.1	-	3	417	c.405G>A	c.(403-405)gtG>gtA	p.V135V	FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510047.1_Silent_p.V135V|FAM173B_ENST00000510052.1_Intron	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	135						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						CAGATCCATGCACACCTTCTC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	82	83			NA	NA	5		NA											NA				10236629		1861	4112	5973	SO:0001819	synonymous_variant				CCDS43301.1, CCDS58942.1	5p15.2	2008-08-08			ENSG00000150756	ENSG00000150756	134145	134145			27029	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_199133	NM_199133	NA	Approved		uc003jeo.3	Q6P4H8	OTTHUMG00000161771	ENST00000511437.1:c.405G>A	5.37:g.10236629C>T		NA	B4DT41	37	CCDS43301.1																																																																																			FAM173B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366048.2		-	ENST00000511437.1	Silent	SNP	5 : 10236629 - 10236629 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	432	61
ALLC	55821	broad.mit.edu	37	2	3745013	3745013	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:3745013A>C	ENST00000252505.3	+	10	979	c.817A>C	c.(817-819)Act>Cct	p.T273P	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	292							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		TGGAGTAATAACTCGAATTGA	0.368		NA								HNSCC(21;0.051)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	138	139			NA	NA	2		NA											NA				3745013		1843	4092	5935	SO:0001583	missense			AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360	55821	55821			17377	protein-coding gene	gene with protein product		612396			NA	11054555	Standard		NM_018436	NA	Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.817A>C	2.37:g.3745013A>C	ENSP00000252505:p.Thr273Pro	NA	Q53T95|Q5RL81|Q96RE6|Q9NZA7	37	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	A	11.59	1.683681	0.29872	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.6	4.46	0.54185	Allantoicase domain (1);Galactose-binding domain-like (1);	0.292757	0.41001	D	0.000968	T	0.70159	0.3192	M	0.80746	2.51	0.39878	D	0.973603	D	0.58970	0.984	P	0.57846	0.828	T	0.72890	-0.4155	9	0.52906	T	0.07	-29.0378	9.3331	0.38034	0.9157:0.0:0.0843:0.0	.	292	Q8N6M5	ALLC_HUMAN	P	273	.	ENSP00000252505:T273P	T	+	1	0	ALLC	3722888	1.000000	0.71417	0.417000	0.26559	0.085000	0.17905	6.896000	0.75665	0.972000	0.38314	0.533000	0.62120	ACT	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322855.1		+	ENST00000252505.3	Missense_Mutation	SNP	2 : 3745013 - 3745013 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	569	76
ZNRF1	84937	broad.mit.edu	37	16	75138699	75138699	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75138699G>T	ENST00000320619.6	+	4	1326	c.691G>T	c.(691-693)Gac>Tac	p.D231Y	ZNRF1_ENST00000564320.1_3'UTR|ZNRF1_ENST00000335325.4_Missense_Mutation_p.D180Y|ZNRF1_ENST00000566250.1_Missense_Mutation_p.D180Y|ZNRF1_ENST00000567962.1_Missense_Mutation_p.D180Y			Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase	180						cell junction|endosome|lysosome|synaptic vesicle membrane	ligase activity|protein binding|zinc ion binding			breast(1)	1						GCTGACTAAAGACGCGGGTGA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	68	74			NA	NA	16		NA											NA				75138699		2198	4300	6498	SO:0001583	missense			AF378524	CCDS10912.1	16q22.3	2013-01-09	2012-02-23		ENSG00000186187	ENSG00000186187	84937	84937		RING-type (C3HC4) zinc fingers	18452	protein-coding gene	gene with protein product		612060	zinc and ring finger 1		NA		Standard		NM_032268	NA	Approved	nin283, FLJ14846, DKFZp434E229	uc002fdl.1	Q8ND25	OTTHUMG00000137606	ENST00000320619.6:c.691G>T	16.37:g.75138699G>T	ENSP00000323362:p.Asp231Tyr	NA	D3DUJ9|Q9H083	37		.	.	.	.	.	.	.	.	.	.	G	28.0	4.880101	0.91740	.	.	ENSG00000186187	ENST00000320619;ENST00000335325	T	0.52983	0.64	6.17	6.17	0.99709	Zinc finger, RING/FYVE/PHD-type (1);	0.045801	0.85682	D	0.000000	T	0.69495	0.3117	M	0.64170	1.965	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.85130	0.997;0.988;0.994	T	0.68398	-0.5419	10	0.87932	D	0	-16.4321	20.8794	0.99867	0.0:0.0:1.0:0.0	.	180;231;180	B4DG67;Q8ND25-2;Q8ND25	.;.;ZNRF1_HUMAN	Y	231;180	ENSP00000335091:D180Y	ENSP00000323362:D231Y	D	+	1	0	ZNRF1	73696200	1.000000	0.71417	0.998000	0.56505	0.834000	0.47266	9.672000	0.98629	2.941000	0.99782	0.655000	0.94253	GAC	ZNRF1-001	KNOWN	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000269019.2		+	ENST00000320619.6	Missense_Mutation	SNP	16 : 75138699 - 75138699 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	73	12
OXTR	5021	broad.mit.edu	37	3	8794867	8794867	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:8794867G>T	ENST00000316793.3	-	4	1590	c.966C>A	c.(964-966)agC>agA	p.S322R	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	322					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	GGTTGCAGCAGCTGTTGAGGC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	57	59			NA	NA	3		NA											NA				8794867		2203	4300	6503	SO:0001583	missense				CCDS2570.1	3p25	2012-08-08			ENSG00000180914	ENSG00000180914	5021	5021		GPCR / Class A : Vasopressin and oxytocin receptors	8529	protein-coding gene	gene with protein product		167055			NA	1313946	Standard		NM_000916	NA	Approved		uc003brc.3	P30559	OTTHUMG00000090537	ENST00000316793.3:c.966C>A	3.37:g.8794867G>T	ENSP00000324270:p.Ser322Arg	NA	Q15071	37	CCDS2570.1	.	.	.	.	.	.	.	.	.	.	G	32	5.168596	0.94768	.	.	ENSG00000180914	ENST00000316793	T	0.79653	-1.29	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.078859	0.85682	D	0.000000	D	0.93321	0.7871	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95265	0.8372	10	0.87932	D	0	-42.436	17.3169	0.87227	0.0:0.0:1.0:0.0	.	322	P30559	OXYR_HUMAN	R	322	ENSP00000324270:S322R	ENSP00000324270:S322R	S	-	3	2	OXTR	8769867	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.696000	0.84270	2.655000	0.90218	0.655000	0.94253	AGC	OXTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207061.2		-	ENST00000316793.3	Missense_Mutation	SNP	3 : 8794867 - 8794867 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	409	24
MAP3K10	4294	broad.mit.edu	37	19	40719444	40719444	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40719444G>A	ENST00000253055.3	+	9	2146	c.1858G>A	c.(1858-1860)Gat>Aat	p.D620N		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	620					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GGAGGCAGAGGATGGAGGCAG	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	18	18			NA	NA	19		NA											NA				40719444		2202	4295	6497	SO:0001583	missense			X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		4294	4294	2.7.11.1	Mitogen-activated protein kinase cascade / Kinase kinase kinases	6849	protein-coding gene	gene with protein product	MKN28 kinase, mixed lineage kinase 2, MKN28 derived nonreceptor_type serine/threonine kinase	600137		MLK2	NA	8536694, 7731697	Standard	NM_002446	NM_002446	NA	Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.1858G>A	19.37:g.40719444G>A	ENSP00000253055:p.Asp620Asn	NA	Q12761|Q14871	37	CCDS12549.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822251	0.32237	.	.	ENSG00000130758	ENST00000253055	T	0.75367	-0.93	4.49	4.49	0.54785	.	0.953020	0.08742	N	0.900357	T	0.69351	0.3101	L	0.36672	1.1	0.35487	D	0.798683	B	0.19817	0.039	B	0.21917	0.037	T	0.65796	-0.6081	10	0.49607	T	0.09	.	14.6516	0.68800	0.0:0.0:1.0:0.0	.	620	Q02779	M3K10_HUMAN	N	620	ENSP00000253055:D620N	ENSP00000253055:D620N	D	+	1	0	MAP3K10	45411284	0.663000	0.27448	0.671000	0.29857	0.238000	0.25445	1.213000	0.32407	2.040000	0.60383	0.313000	0.20887	GAT	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462552.1		+	ENST00000253055.3	Missense_Mutation	SNP	19 : 40719444 - 40719444 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	176	40
DOCK1	1793	broad.mit.edu	37	10	128908593	128908593	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:128908593C>T	ENST00000280333.6	+	25	2644	c.2535C>T	c.(2533-2535)gtC>gtT	p.V845V		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	845					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TCGAAATCGTCCACAGTGACC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	76	78			NA	NA	10		NA											NA				128908593		1920	4148	6068	SO:0001819	synonymous_variant			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760	1793	1793			2987	protein-coding gene	gene with protein product	DOwnstream of CrK	601403	dedicator of cyto-kinesis 1		NA	8657152, 8661160	Standard	NM_001380	XM_006717681	NA	Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.2535C>T	10.37:g.128908593C>T		NA	A9Z1Z5	37																																																																																				DOCK1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000050979.2		+	ENST00000280333.6	Silent	SNP	10 : 128908593 - 128908593 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	110	24
UBQLNL	143630	broad.mit.edu	37	11	5537044	5537044	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5537044C>T	ENST00000380184.1	-	1	891	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	210										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CGGGAAACTTCTGGGTTCTGC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	131	130			NA	NA	11		NA											NA				5537044		2201	4297	6498	SO:0001583	missense			AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518	143630	143630		Ubiquilin family	28294	protein-coding gene	gene with protein product					NA		Standard	NM_145053	NM_145053	NA	Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.628G>A	11.37:g.5537044C>T	ENSP00000369531:p.Glu210Lys	NA	Q6ZRU1|Q96EK3|Q96MB0	37	CCDS31385.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087164	0.36855	.	.	ENSG00000175518	ENST00000380184	T	0.59083	0.29	5.05	5.05	0.67936	.	0.000000	0.51477	D	0.000085	T	0.78142	0.4237	M	0.87682	2.9	0.48571	D	0.999671	D	0.89917	1.0	D	0.80764	0.994	T	0.81837	-0.0749	10	0.87932	D	0	.	13.8389	0.63426	0.0:1.0:0.0:0.0	.	210	Q8IYU4	UBQLN_HUMAN	K	210	ENSP00000369531:E210K	ENSP00000369531:E210K	E	-	1	0	UBQLNL	5493620	0.995000	0.38212	1.000000	0.80357	0.042000	0.13812	4.775000	0.62346	2.615000	0.88500	0.650000	0.86243	GAA	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000143386.1		-	ENST00000380184.1	Missense_Mutation	SNP	11 : 5537044 - 5537044 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	860	155
TTN	7273	broad.mit.edu	37	2	179500957	179500957	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179500957G>A	ENST00000589042.1	-	226	41565	c.41341C>T	c.(41341-41343)Cgt>Tgt	p.R13781C	TTN_ENST00000342992.6_Missense_Mutation_p.R11213C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R12140C|TTN_ENST00000342175.6_Missense_Mutation_p.R4908C|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R4841C|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R4716C|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12140	Ig-like 94.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTACAAAACGCACAGGAAGT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	26	27			NA	NA	2		NA											NA				179500957		1869	4102	5971	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.41341C>T	2.37:g.179500957G>A	ENSP00000467141:p.Arg13781Cys	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901701	0.33535	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.62	5.62	0.85841	Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50514	0.1620	L	0.57536	1.79	0.50171	D	0.999854	D;D;D;D	0.67145	0.996;0.996;0.996;0.996	P;P;P;P	0.47528	0.549;0.549;0.549;0.549	T	0.55477	-0.8135	9	0.87932	D	0	.	19.6536	0.95828	0.0:0.0:1.0:0.0	.	4716;4841;4908;12140	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	11213;4716;4908;4841;4716	ENSP00000343764:R11213C;ENSP00000434586:R4716C;ENSP00000340554:R4908C;ENSP00000352154:R4841C	ENSP00000340554:R4908C	R	-	1	0	TTN	179209202	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.924000	0.70054	2.652000	0.90054	0.585000	0.79938	CGT	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179500957 - 179500957 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	86	21
MVB12B	89853	broad.mit.edu	37	9	129157960	129157960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129157960G>A	ENST00000361171.3	+	6	727	c.646G>A	c.(646-648)Gcc>Acc	p.A216T	MVB12B_ENST00000545391.1_Missense_Mutation_p.A216T|MVB12B_ENST00000535766.1_Missense_Mutation_p.A209T|MVB12B_ENST00000436593.3_Missense_Mutation_p.A201T	NM_033446.2	NP_258257.1			multivesicular body subunit 12B	NA											NA						CTCCACCCCAGCCCCCAACCT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	123	127			NA	NA	9		NA											NA				129157960		2203	4300	6503	SO:0001583	missense			AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814	89853	89853			23368	protein-coding gene	gene with protein product			chromosome 9 open reading frame 28, family with sequence similarity 125, member B	C9orf28, FAM125B	NA	18005716, 20654576, 22232651	Standard	XM_088525	NM_033446	NA	Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.646G>A	9.37:g.129157960G>A	ENSP00000354772:p.Ala216Thr	NA		37	CCDS35142.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133316	0.77662	.	.	ENSG00000196814	ENST00000361171;ENST00000545391;ENST00000402437;ENST00000436593;ENST00000535766	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	5.69	5.69	0.88448	.	0.055983	0.64402	D	0.000001	T	0.52435	0.1734	M	0.63428	1.95	0.48452	D	0.999654	P;B;P;B	0.40931	0.733;0.114;0.659;0.134	B;B;B;B	0.43658	0.426;0.055;0.228;0.112	T	0.43294	-0.9400	10	0.16420	T	0.52	-0.1943	19.8045	0.96525	0.0:0.0:1.0:0.0	.	209;201;85;216	B7Z4X0;B7Z1P9;Q9H7N7;Q9H7P6	.;.;.;F125B_HUMAN	T	216;216;201;201;209	ENSP00000354772:A216T;ENSP00000441988:A216T;ENSP00000384751:A201T;ENSP00000401379:A201T;ENSP00000442846:A209T	ENSP00000354772:A216T	A	+	1	0	FAM125B	128197781	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.626000	0.74253	2.676000	0.91093	0.655000	0.94253	GCC	MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054110.1		+	ENST00000361171.3	Missense_Mutation	SNP	9 : 129157960 - 129157960 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	620	19
SERPINB10	5273	broad.mit.edu	37	18	61600360	61600360	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61600360G>T	ENST00000238508.3	+	7	771	c.712G>T	c.(712-714)Ggc>Tgc	p.G238C		NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10	NA										breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				AAAAGCAGTGGGCCTTCAACT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	129	125			NA	NA	18		NA											NA				61600360		2203	4300	6503	SO:0001583	missense			U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550	5273	5273		Serine (or cysteine) peptidase inhibitors	8942	protein-coding gene	gene with protein product	protease inhibitor 10 (ovalbumin type, bomapin)	602058	serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10	PI10	NA	9268635, 10871600, 24172014	Standard	NM_005024	NM_005024	NA	Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.712G>T	18.37:g.61600360G>T	ENSP00000238508:p.Gly238Cys	NA		37	CCDS11990.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.520658	0.27211	.	.	ENSG00000242550	ENST00000238508	D	0.82619	-1.63	5.95	4.17	0.49024	Serpin domain (3);	0.332680	0.32703	N	0.005745	D	0.86456	0.5937	L	0.56124	1.755	0.09310	N	0.999995	D	0.76494	0.999	D	0.66716	0.946	T	0.77755	-0.2469	10	0.87932	D	0	.	8.3816	0.32474	0.285:0.0:0.715:0.0	.	238	P48595	SPB10_HUMAN	C	238	ENSP00000238508:G238C	ENSP00000238508:G238C	G	+	1	0	SERPINB10	59751340	0.124000	0.22315	0.240000	0.24138	0.009000	0.06853	1.407000	0.34657	1.539000	0.49286	-0.136000	0.14681	GGC	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000134012.3		+	ENST00000238508.3	Missense_Mutation	SNP	18 : 61600360 - 61600360 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	599	138
KIAA1551	55196	broad.mit.edu	37	12	32137828	32137828	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32137828T>C	ENST00000312561.4	+	4	4353	c.3939T>C	c.(3937-3939)tcT>tcC	p.S1313S	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639			KIAA1551	NA											NA						TGACAGCATCTTATGAACAAG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	84	82			NA	NA	12		NA											NA				32137828		2203	4300	6503	SO:0001819	synonymous_variant			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718	55196	55196			25559	protein-coding gene	gene with protein product			chromosome 12 open reading frame 35	C12orf35	NA	10997877	Standard	NM_018169	NM_018169	NA	Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.3939T>C	12.37:g.32137828T>C		NA		37	CCDS8725.2																																																																																			KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250307.2		+	ENST00000312561.4	Silent	SNP	12 : 32137828 - 32137828 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	525	97
KDM5C	8242	broad.mit.edu	37	X	53245326	53245326	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53245326C>A	ENST00000375401.3	-	6	1243	c.711G>T	c.(709-711)caG>caT	p.Q237H	KDM5C_ENST00000375379.3_Missense_Mutation_p.Q237H|KDM5C_ENST00000404049.3_Missense_Mutation_p.Q236H|KDM5C_ENST00000452825.3_Missense_Mutation_p.Q170H|KDM5C_ENST00000375383.3_Missense_Mutation_p.Q196H	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	237					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CCCCATAGATCTGTAGCTTTT	0.532		NA	N, F, S		clear cell renal carcinoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0													113	101	105			NA	NA	X		NA											NA				53245326		2203	4300	6503	SO:0001583	missense			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012	8242	8242		Chromatin-modifying enzymes / K-demethylases, Zinc fingers, PHD-type	11114	protein-coding gene	gene with protein product		314690	Jumonji, AT rich interactive domain 1C (RBP2-like), Smcy homolog, X-linked (mouse), jumonji, AT rich interactive domain 1C, mental retardation, X-linked 13	SMCX, JARID1C, MRX13	NA	7951230, 8162017, 19826449	Standard	NM_004187	NM_004187	NA	Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.711G>T	X.37:g.53245326C>A	ENSP00000364550:p.Gln237His	NA	Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380961	0.61845	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D;D	0.87966	-2.32;-2.0;-2.01;-2.0;-2.16	4.86	3.99	0.46301	.	0.000000	0.85682	D	0.000000	D	0.92704	0.7681	M	0.83953	2.67	0.47659	D	0.999484	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.984;0.984	D	0.92310	0.5857	10	0.72032	D	0.01	-24.0144	10.1738	0.42927	0.0:0.8985:0.0:0.1015	.	170;236;237	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	H	170;237;236;237;196	ENSP00000445176:Q170H;ENSP00000364550:Q237H;ENSP00000385394:Q236H;ENSP00000364528:Q237H;ENSP00000364532:Q196H	ENSP00000364528:Q237H	Q	-	3	2	KDM5C	53262051	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.989000	0.56958	0.841000	0.35020	0.529000	0.55759	CAG	KDM5C-005	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056737.2		-	ENST00000375401.3	Missense_Mutation	SNP	X : 53245326 - 53245326 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	382	107
PHF10	55274	broad.mit.edu	37	6	170104118	170104118	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170104118T>G	ENST00000339209.4	-	12	1601	c.1478A>C	c.(1477-1479)aAa>aCa	p.K493T	PHF10_ENST00000366780.4_Missense_Mutation_p.K491T|C6orf120_ENST00000332290.2_3'UTR	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	493					nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		TTTGCTGTTTTTCCCCCTTCT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	78	79			NA	NA	6		NA											NA				170104118		2203	4300	6503	SO:0001583	missense			AF338735	CCDS5308.2, CCDS5309.2	6q27	2014-05-13			ENSG00000130024	ENSG00000130024	55274	55274		Zinc fingers, PHD-type	18250	protein-coding gene	gene with protein product		613069			NA	11827455	Standard	NM_018288	NM_018288	NA	Approved	FLJ10975, XAP135, BAF45a	uc011egy.2	Q8WUB8	OTTHUMG00000016058	ENST00000339209.4:c.1478A>C	6.37:g.170104118T>G	ENSP00000341805:p.Lys493Thr	NA	Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	37	CCDS5308.2	.	.	.	.	.	.	.	.	.	.	T	18.77	3.693890	0.68386	.	.	ENSG00000130024	ENST00000366780;ENST00000339209	D;D	0.89746	-2.56;-2.56	5.98	4.82	0.62117	.	0.084171	0.85682	D	0.000000	T	0.81777	0.4894	N	0.25485	0.75	0.41228	D	0.986557	D;P	0.56521	0.976;0.925	P;B	0.51615	0.675;0.346	D	0.84625	0.0686	10	0.72032	D	0.01	-27.1967	11.2224	0.48864	0.0:0.0711:0.0:0.9289	.	491;493	Q8WUB8-2;Q8WUB8	.;PHF10_HUMAN	T	491;493	ENSP00000355743:K491T;ENSP00000341805:K493T	ENSP00000341805:K493T	K	-	2	0	PHF10	169846043	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.962000	0.70364	1.093000	0.41377	0.533000	0.62120	AAA	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346732.1		-	ENST00000339209.4	Missense_Mutation	SNP	6 : 170104118 - 170104118 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	264	49
C3	718	broad.mit.edu	37	19	6694476	6694476	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6694476C>A	ENST00000245907.6	-	24	3212	c.3120G>T	c.(3118-3120)gaG>gaT	p.E1040D		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1040					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CCTGCCGCTTCTCTAGGCCGA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	84	92			NA	NA	19		NA											NA				6694476		2203	4300	6503	SO:0001583	missense			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	718	718	3.4.21.43	Complement system, Endogenous ligands	1318	protein-coding gene	gene with protein product	C3a anaphylatoxin, complement component C3a, complement component C3b, prepro-C3	120700			NA		Standard	NM_000064	NM_000064	NA	Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.3120G>T	19.37:g.6694476C>A	ENSP00000245907:p.Glu1040Asp	NA	A7E236	37	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	0.339	-0.951487	0.02285	.	.	ENSG00000125730	ENST00000245907	T	0.38401	1.14	5.76	-2.6	0.06190	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.649357	0.16985	N	0.191542	T	0.18257	0.0438	L	0.31804	0.96	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.12268	-1.0554	10	0.25751	T	0.34	.	3.7554	0.08584	0.101:0.2922:0.3974:0.2094	.	1040	P01024	CO3_HUMAN	D	1040	ENSP00000245907:E1040D	ENSP00000245907:E1040D	E	-	3	2	C3	6645476	0.000000	0.05858	0.164000	0.22755	0.039000	0.13416	-1.638000	0.02013	-0.149000	0.11215	-0.142000	0.14014	GAG	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317636.2		-	ENST00000245907.6	Missense_Mutation	SNP	19 : 6694476 - 6694476 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	455	74
FAM212A	389119	broad.mit.edu	37	3	49842116	49842116	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49842116T>C	ENST00000333323.4	+	2	693	c.560T>C	c.(559-561)gTa>gCa	p.V187A		NM_203370.1	NP_976248.1	Q96EL1	CC054_HUMAN	family with sequence similarity 212, member A	185											NA						CAGCCCCTGGTACTAGGGGAC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	53	54			NA	NA	3		NA											NA				49842116		2203	4299	6502	SO:0001583	missense			BC012170	CCDS2804.1	3p21.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000185614	ENSG00000185614	389119	389119			32480	protein-coding gene	gene with protein product			chromosome 3 open reading frame 54	C3orf54	NA		Standard	NM_203370	NM_203370	NA	Approved		uc003cxq.1	Q96EL1	OTTHUMG00000158268	ENST00000333323.4:c.560T>C	3.37:g.49842116T>C	ENSP00000329735:p.Val187Ala	NA		37	CCDS2804.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.339763	0.81911	.	.	ENSG00000185614	ENST00000333323	.	.	.	5.44	5.44	0.79542	.	0.000000	0.44097	D	0.000487	T	0.78892	0.4355	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.81762	-0.0784	9	0.87932	D	0	.	15.2199	0.73303	0.0:0.0:0.0:1.0	.	185	Q96EL1	CC054_HUMAN	A	187	.	ENSP00000329735:V187A	V	+	2	0	C3orf54	49817120	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.058000	0.71126	2.076000	0.62316	0.454000	0.30748	GTA	FAM212A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350514.1		+	ENST00000333323.4	Missense_Mutation	SNP	3 : 49842116 - 49842116 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	445	22
KAT2B	8850	broad.mit.edu	37	3	20167396	20167396	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:20167396G>T	ENST00000263754.4	+	10	1868		c.e10-1			NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	NA					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TTGCATCTCAGACCAATTTTC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	74	73			NA	NA	3		NA											NA				20167396		2203	4300	6503	SO:0001630	splice_region_variant			U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166	8850	8850		Chromatin-modifying enzymes / K-acetyltransferases	8638	protein-coding gene	gene with protein product		602303	p300/CBP-associated factor	PCAF	NA	8684459, 9722949	Standard	NM_003884	NM_003884	NA	Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.1414-1G>T	3.37:g.20167396G>T		NA	Q6NSK1	37	CCDS2634.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337915	0.60963	.	.	ENSG00000114166	ENST00000263754	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6847	0.95976	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KAT2B	20142400	1.000000	0.71417	1.000000	0.80357	0.342000	0.28953	9.813000	0.99286	2.726000	0.93360	0.655000	0.94253	.	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252880.1	Intron	+	ENST00000263754.4	Splice_Site	SNP	3 : 20167396 - 20167396 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	500	70
GBP4	115361	broad.mit.edu	37	1	89652754	89652754	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89652754G>A	ENST00000355754.6	-	9	1539	c.1442C>T	c.(1441-1443)tCa>tTa	p.S481L		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	481						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		AACCACCTGTGACTGCAGGAA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	117	124			NA	NA	1		NA											NA				89652754		2203	4300	6503	SO:0001583	missense			AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654	115361	115361			20480	protein-coding gene	gene with protein product		612466			NA	16689661	Standard	NM_052941	NM_052941	NA	Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.1442C>T	1.37:g.89652754G>A	ENSP00000359490:p.Ser481Leu	NA	B2R630|Q05D63|Q6NSL0|Q86T99	37	CCDS721.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410312	0.42715	.	.	ENSG00000162654	ENST00000355754	T	0.02606	4.23	4.3	1.27	0.21489	Guanylate-binding protein, C-terminal (3);	0.733487	0.12731	N	0.443803	T	0.03305	0.0096	M	0.92317	3.295	0.09310	N	1	P	0.37573	0.6	B	0.42653	0.394	T	0.21655	-1.0239	10	0.48119	T	0.1	.	5.8011	0.18414	0.0935:0.0:0.4101:0.4964	.	481	Q96PP9	GBP4_HUMAN	L	481	ENSP00000359490:S481L	ENSP00000359490:S481L	S	-	2	0	GBP4	89425342	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.528000	0.23002	0.156000	0.19299	-1.130000	0.01982	TCA	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029409.1		-	ENST00000355754.6	Missense_Mutation	SNP	1 : 89652754 - 89652754 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	401	46
MLPH	79083	broad.mit.edu	37	2	238449001	238449001	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238449001C>A	ENST00000410032.1	+	8	1079	c.686C>A	c.(685-687)gCt>gAt	p.A229D	MLPH_ENST00000445024.2_Missense_Mutation_p.A372D|MLPH_ENST00000338530.4_Missense_Mutation_p.A344D|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000264605.3_Missense_Mutation_p.A372D|MLPH_ENST00000409373.1_Missense_Mutation_p.A304D			Q9BV36	MELPH_HUMAN	melanophilin	227							metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		GGTCTAGGTGCTGGAGTGCGC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	58	59			NA	NA	2		NA											NA				238449001		2203	4300	6503	SO:0001583	missense			AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648	79083	79083			29643	protein-coding gene	gene with protein product		606526			NA	11980908, 11504925	Standard	NM_024101	NM_024101	NA	Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000410032.1:c.686C>A	2.37:g.238449001C>A	ENSP00000386338:p.Ala229Asp	NA	Q9HA71	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	14.66|14.66|14.66	2.602683|2.602683|2.602683	0.46423|0.46423|0.46423	.|.|.	.|.|.	ENSG00000115648|ENSG00000115648|ENSG00000115648	ENST00000410032;ENST00000264605;ENST00000445024;ENST00000338530;ENST00000409373;ENST00000437893|ENST00000415753|ENST00000436965	T;T;T;T;T;T|.|.	0.26810|.|.	1.95;2.11;1.95;1.92;1.71;1.87|.|.	4.34|4.34|4.34	-1.32|-1.32|-1.32	0.09201|0.09201|0.09201	.|.|.	1.852170|.|.	0.04248|.|.	N|.|.	0.338191|.|.	T|.|T	0.26774|.|0.26774	0.0655|.|0.0655	L|L|L	0.44542|0.44542|0.44542	1.39|1.39|1.39	0.09310|0.09310|0.09310	N|N|N	1|1|1	B;D;D;P;D;P;P;B|.|.	0.57571|.|.	0.158;0.98;0.974;0.839;0.958;0.9;0.883;0.102|.|.	B;P;P;B;P;P;P;B|.|.	0.51657|.|.	0.028;0.601;0.676;0.347;0.587;0.549;0.482;0.037|.|.	T|.|T	0.28586|.|0.28586	-1.0039|.|-1.0039	10|.|5	0.10377|.|.	T|.|.	0.69|.|.	-2.1634|-2.1634|-2.1634	2.0399|2.0399|2.0399	0.03548|0.03548|0.03548	0.1362:0.3652:0.3095:0.1891|0.1362:0.3652:0.3095:0.1891|0.1362:0.3652:0.3095:0.1891	.|.|.	33;372;228;344;304;344;372;229|.|.	Q53QV8;B4DKW7;Q6UWC1;A8KA64;B8ZZ97;Q9BV36-2;Q9BV36;G5E9G5|.|.	.;.;.;.;.;.;MELPH_HUMAN;.|.|.	D|X|M	229;372;372;344;304;132|59|93	ENSP00000386338:A229D;ENSP00000264605:A372D;ENSP00000414849:A372D;ENSP00000341845:A344D;ENSP00000386780:A304D;ENSP00000412438:A132D|.|.	ENSP00000264605:A372D|.|.	A|C|L	+|+|+	2|3|1	0|2|2	MLPH|MLPH|MLPH	238113740|238113740|238113740	0.001000|0.001000|0.001000	0.12720|0.12720|0.12720	0.000000|0.000000|0.000000	0.03702|0.03702|0.03702	0.003000|0.003000|0.003000	0.03518|0.03518|0.03518	0.487000|0.487000|0.487000	0.22356|0.22356|0.22356	-0.248000|-0.248000|-0.248000	0.09583|0.09583|0.09583	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GCT|TGC|CTG	MLPH-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000328854.1		+	ENST00000410032.1	Missense_Mutation	SNP	2 : 238449001 - 238449001 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	229	67
ZZZ3	26009	broad.mit.edu	37	1	78046696	78046696	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78046696G>T	ENST00000370801.3	-	9	2442	c.1967C>A	c.(1966-1968)aCt>aAt	p.T656N	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.T162N	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	656	HTH myb-type.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TTCTTCAACAGTCCACAACTG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	165	167			NA	NA	1		NA											NA				78046696		2203	4300	6503	SO:0001583	missense			AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549	26009	26009		Zinc fingers, ZZ-type	24523	protein-coding gene	gene with protein product	ATAC component 1 homolog (Drosophila)				NA	16428443, 21304275	Standard	NM_015534	NM_015534	NA	Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.1967C>A	1.37:g.78046696G>T	ENSP00000359837:p.Thr656Asn	NA	B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	37	CCDS677.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250996	0.80135	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	T;T	0.62498	0.02;0.02	5.77	5.77	0.91146	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.106561	0.64402	D	0.000006	T	0.80864	0.4705	M	0.93106	3.38	0.80722	D	1	B;D;P	0.71674	0.447;0.998;0.934	B;D;P	0.69479	0.147;0.964;0.603	D	0.84252	0.0478	10	0.72032	D	0.01	.	15.4799	0.75517	0.0:0.1381:0.8619:0.0	.	162;656;655	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	N	656;162	ENSP00000359837:T656N;ENSP00000359834:T162N	ENSP00000359834:T162N	T	-	2	0	ZZZ3	77819284	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	5.208000	0.65203	2.902000	0.99343	0.650000	0.86243	ACT	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026615.1		-	ENST00000370801.3	Missense_Mutation	SNP	1 : 78046696 - 78046696 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	534	42
AMER3	205147	broad.mit.edu	37	2	131521183	131521183	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131521183G>A	ENST00000423981.1	+	2	1648	c.1538G>A	c.(1537-1539)cGc>cAc	p.R513H	AMER3_ENST00000321420.4_Missense_Mutation_p.R513H	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3	NA								p.R513H(1)			NA						AGCTGGCTGCGCCGAGGCCCC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	pancreas(1)						G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	2,4346		0,2,2172	9	8	9		1538,1538,1538,1538	4.7	1	2		9	0,8508		0,0,4254	no	missense,missense,missense,missense	FAM123C	NM_001105193.1,NM_001105194.1,NM_001105195.1,NM_152698.2	29,29,29,29	0,2,6426	AA,AG,GG	NA	0.0,0.046,0.0156	probably-damaging,probably-damaging,probably-damaging,probably-damaging	513/862,513/862,513/862,513/862	131521183	2,12854	2174	4254	6428	SO:0001583	missense			AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171	205147	205147		-	26771	protein-coding gene	gene with protein product			family with sequence similarity 123C	FAM123C	NA	20843316	Standard	NM_152698	NM_001105195	NA	Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1538G>A	2.37:g.131521183G>A	ENSP00000392700:p.Arg513His	NA		37	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.090372	0.55968	4.6E-4	0.0	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.64438	-0.1;-0.1	4.69	4.69	0.59074	.	0.000000	0.46442	D	0.000285	T	0.69342	0.3100	L	0.32530	0.975	0.33169	D	0.548037	D	0.89917	1.0	D	0.68943	0.961	T	0.77965	-0.2389	10	0.72032	D	0.01	.	15.4857	0.75564	0.0:0.0:1.0:0.0	.	513	Q8N944	F123C_HUMAN	H	513	ENSP00000314914:R513H;ENSP00000392700:R513H	ENSP00000314914:R513H	R	+	2	0	FAM123C	131237653	1.000000	0.71417	0.985000	0.45067	0.441000	0.31987	5.054000	0.64275	2.330000	0.79161	0.561000	0.74099	CGC	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254531.3		+	ENST00000423981.1	Missense_Mutation	SNP	2 : 131521183 - 131521183 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	78	17
TANC1	85461	broad.mit.edu	37	2	160043449	160043449	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160043449C>A	ENST00000263635.6	+	16	2893	c.2656C>A	c.(2656-2658)Ctc>Atc	p.L886I	TANC1_ENST00000454300.1_Missense_Mutation_p.L780I	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	886						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TTCAAGCCATCTCCAAGCCCT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	71	71			NA	NA	2		NA											NA				160043449		1924	4115	6039	SO:0001583	missense			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183	85461	85461		Ankyrin repeat domain containing, Tetratricopeptide (TTC) repeat domain containing	29364	protein-coding gene	gene with protein product	rolling pebbles homolog B (Drosophila)	611397			NA	15673434	Standard		NM_033394	NA	Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.2656C>A	2.37:g.160043449C>A	ENSP00000263635:p.Leu886Ile	NA	C9JD88|Q49AI8	37	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	C	33	5.218434	0.95104	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.75367	-0.89;-0.93	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.85323	0.5670	M	0.74258	2.255	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.985	D;D;P	0.83275	0.991;0.996;0.808	D	0.86007	0.1498	10	0.72032	D	0.01	.	13.7134	0.62682	0.0:0.9301:0.0:0.0699	.	878;780;886	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	I	780;886	ENSP00000396339:L780I;ENSP00000263635:L886I	ENSP00000263635:L886I	L	+	1	0	TANC1	159751695	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.963000	0.63694	2.861000	0.98227	0.655000	0.94253	CTC	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333135.1		+	ENST00000263635.6	Missense_Mutation	SNP	2 : 160043449 - 160043449 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	336	79
CAMSAP1	157922	broad.mit.edu	37	9	138714511	138714511	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138714511C>T	ENST00000389532.4	-	11	2060	c.1996G>A	c.(1996-1998)Gag>Aag	p.E666K	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.E388K|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.E677K	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	666						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GGTCCTGTCTCGGTGGGGTCG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	50	49			NA	NA	9		NA											NA				138714511		2203	4300	6503	SO:0001583	missense			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559	157922	157922			19946	protein-coding gene	gene with protein product		613774			NA	12477932	Standard	XM_351857	NM_015447	NA	Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.1996G>A	9.37:g.138714511C>T	ENSP00000374183:p.Glu666Lys	NA	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	37	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	C	17.10	3.304212	0.60305	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.14640	2.5;2.49;2.5	5.17	5.17	0.71159	.	1.161590	0.06569	N	0.748121	T	0.12774	0.0310	N	0.22421	0.69	0.51233	D	0.999914	P;P	0.48230	0.85;0.907	B;B	0.34652	0.125;0.187	T	0.47947	-0.9077	10	0.87932	D	0	-4.9181	18.6807	0.91545	0.0:1.0:0.0:0.0	.	666;677	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	K	666;388;677	ENSP00000374183:E666K;ENSP00000312463:E388K;ENSP00000386420:E677K	ENSP00000312463:E388K	E	-	1	0	CAMSAP1	137854332	0.998000	0.40836	0.191000	0.23289	0.004000	0.04260	5.019000	0.64060	2.403000	0.81681	0.655000	0.94253	GAG	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055024.2		-	ENST00000389532.4	Missense_Mutation	SNP	9 : 138714511 - 138714511 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	214	42
PCMTD2	55251	broad.mit.edu	37	20	62899295	62899295	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62899295C>A	ENST00000308824.6	+	5	765	c.638C>A	c.(637-639)gCt>gAt	p.A213D	PCMTD2_ENST00000299468.7_Missense_Mutation_p.A213D|PCMTD2_ENST00000609372.1_Intron|PCMTD2_ENST00000369758.4_Intron	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	213						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AAGATTCTTGCTGTTTCTTTT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	102	104			NA	NA	20		NA											NA				62899295		2203	4300	6503	SO:0001583	missense			AK001745	CCDS13559.1, CCDS46631.1	20q13.33	2012-10-02	2005-10-06	2005-10-06	ENSG00000203880	ENSG00000203880	55251	55251			15882	protein-coding gene	gene with protein product			chromosome 20 open reading frame 36	C20orf36	NA		Standard	NM_018257	NM_018257	NA	Approved	FLJ10883	uc002yil.4	Q9NV79	OTTHUMG00000033029	ENST00000308824.6:c.638C>A	20.37:g.62899295C>A	ENSP00000307854:p.Ala213Asp	NA	E1P5H3|Q8IW60|Q9H4K2	37	CCDS13559.1	.	.	.	.	.	.	.	.	.	.	.	16.84	3.233203	0.58777	.	.	ENSG00000203880	ENST00000299468;ENST00000308824	T;T	0.43294	0.95;0.95	5.4	5.4	0.78164	.	0.049390	0.85682	D	0.000000	T	0.36991	0.0987	L	0.29908	0.895	0.80722	D	1	B	0.24186	0.099	B	0.25140	0.058	T	0.11397	-1.0589	10	0.45353	T	0.12	-18.4738	19.5253	0.95203	0.0:1.0:0.0:0.0	.	213	Q9NV79	PCMD2_HUMAN	D	213	ENSP00000299468:A213D;ENSP00000307854:A213D	ENSP00000299468:A213D	A	+	2	0	PCMTD2	62369739	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.879000	0.75572	2.696000	0.92011	0.650000	0.86243	GCT	PCMTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080301.1		+	ENST00000308824.6	Missense_Mutation	SNP	20 : 62899295 - 62899295 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	71
LIMD1	8994	broad.mit.edu	37	3	45636972	45636972	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45636972G>A	ENST00000440097.1	+	1	1157	c.601G>A	c.(601-603)Ggc>Agc	p.G201S	LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000273317.4_Missense_Mutation_p.G201S			Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	201					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CCCCAGCATCGGCCTGAGTGT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	78	79			NA	NA	3		NA											NA				45636972		2203	4300	6503	SO:0001583	missense			AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791	8994	8994			6612	protein-coding gene	gene with protein product		604543			NA	10647888	Standard	NM_014240	NM_014240	NA	Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000440097.1:c.601G>A	3.37:g.45636972G>A	ENSP00000394537:p.Gly201Ser	NA	Q17RQ1|Q9BQQ9|Q9NQ47	37		.	.	.	.	.	.	.	.	.	.	G	0.593	-0.832142	0.02713	.	.	ENSG00000144791	ENST00000440097;ENST00000273317	T;T	0.56275	0.47;0.67	4.7	0.984	0.19773	.	1.041780	0.07538	N	0.913381	T	0.23611	0.0571	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.20974	-1.0259	10	0.02654	T	1	.	7.038	0.25004	0.7254:0.0:0.2746:0.0	.	201	Q9UGP4	LIMD1_HUMAN	S	201	ENSP00000394537:G201S;ENSP00000273317:G201S	ENSP00000273317:G201S	G	+	1	0	LIMD1	45611976	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	0.767000	0.26575	-0.067000	0.12976	-0.379000	0.06801	GGC	LIMD1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000345079.1		+	ENST00000440097.1	Missense_Mutation	SNP	3 : 45636972 - 45636972 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	398	67
PPP2R5A	5525	broad.mit.edu	37	1	212519209	212519209	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212519209G>A	ENST00000261461.2	+	5	1212	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	PPP2R5A_ENST00000498129.2_3'UTR|PPP2R5A_ENST00000537030.3_Missense_Mutation_p.R156Q	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	213					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		GTTCTGCACCGAATTTATGGG	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	74	74			NA	NA	1		NA											NA				212519209		2203	4300	6503	SO:0001583	missense			BC022474	CCDS1503.1, CCDS55686.1	1q32.2-q32.3	2010-06-18	2010-04-14		ENSG00000066027	ENSG00000066027	5525	5525		Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits	9309	protein-coding gene	gene with protein product		601643	protein phosphatase 2, regulatory subunit B (B56), alpha isoform, protein phosphatase 2, regulatory subunit B', alpha isoform		NA	7592815	Standard	NM_006243	NM_006243	NA	Approved	PR61A, B56A	uc001hjb.3	Q15172	OTTHUMG00000036750	ENST00000261461.2:c.638G>A	1.37:g.212519209G>A	ENSP00000261461:p.Arg213Gln	NA	B2R6D2|D3DT99|Q2NL72|Q5VVB2|Q8TBI9	37	CCDS1503.1	.	.	.	.	.	.	.	.	.	.	G	36	5.750126	0.96890	.	.	ENSG00000066027	ENST00000542178;ENST00000261461;ENST00000537030	.	.	.	5.48	5.48	0.80851	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85911	0.5807	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88499	0.3081	9	0.87932	D	0	-7.3463	19.3549	0.94408	0.0:0.0:1.0:0.0	.	156;213	B7Z7L2;Q15172	.;2A5A_HUMAN	Q	213;213;156	.	ENSP00000261461:R213Q	R	+	2	0	PPP2R5A	210585832	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.666000	0.98612	2.573000	0.86826	0.491000	0.48974	CGA	PPP2R5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089302.1		+	ENST00000261461.2	Missense_Mutation	SNP	1 : 212519209 - 212519209 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	414	77
SPATA22	84690	broad.mit.edu	37	17	3343532	3343532	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3343532G>A	ENST00000573128.1	-	9	1484	c.1001C>T	c.(1000-1002)gCg>gTg	p.A334V	SPATA22_ENST00000575375.1_Missense_Mutation_p.A334V|SPATA22_ENST00000355380.4_Missense_Mutation_p.A291V|SPATA22_ENST00000541913.1_Missense_Mutation_p.A318V|SPATA22_ENST00000572969.1_Missense_Mutation_p.A334V|SPATA22_ENST00000397168.3_Missense_Mutation_p.A334V			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	334										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						AGAAACAGACGCCGGTCTGAC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,,VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	66	72	70		1001,872,1001,1001,,1001	5.7	1	17		70	0,8600		0,0,4300	no	missense,missense,missense,missense,utr-3,missense	SPATA22	NM_001170695.1,NM_001170696.1,NM_001170697.1,NM_001170698.1,NM_001170699.1,NM_032598.4	64,64,64,64,,64	0,2,6501	AA,AG,GG	NA	0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,,probably-damaging	334/364,291/321,334/364,334/364,,334/364	3343532	2,13004	2203	4300	6503	SO:0001583	missense			AY035868	CCDS11027.1, CCDS54066.1, CCDS54067.1	17p13.3	2005-12-19					84690	84690			30705	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_032598	NM_001170696	NA	Approved	NYD-SP20	uc002fvn.3	Q8NHS9		ENST00000573128.1:c.1001C>T	17.37:g.3343532G>A	ENSP00000459580:p.Ala334Val	NA	D3DTI9|Q969H3|Q96JT4	37	CCDS11027.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.886862	0.91814	4.54E-4	0.0	ENSG00000141255	ENST00000355380;ENST00000397168;ENST00000541913	T;T;T	0.37752	1.18;1.18;1.18	5.71	5.71	0.89125	.	0.256413	0.31542	N	0.007477	T	0.43122	0.1233	N	0.19112	0.55	0.39359	D	0.965891	D;D;D	0.69078	0.997;0.997;0.997	P;P;P	0.57324	0.818;0.818;0.818	T	0.44205	-0.9343	10	0.87932	D	0	-19.6519	19.2308	0.93839	0.0:0.0:1.0:0.0	.	318;291;334	F5GWB9;Q8NHS9-2;Q8NHS9	.;.;SPT22_HUMAN	V	291;334;318	ENSP00000347541:A291V;ENSP00000380354:A334V;ENSP00000441920:A318V	ENSP00000347541:A291V	A	-	2	0	SPATA22	3290282	1.000000	0.71417	0.992000	0.48379	0.875000	0.50365	5.895000	0.69814	2.868000	0.98415	0.557000	0.71058	GCG	SPATA22-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438067.2		-	ENST00000573128.1	Missense_Mutation	SNP	17 : 3343532 - 3343532 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	417	44
CHRDL2	25884	broad.mit.edu	37	11	74417568	74417568	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74417568C>T	ENST00000376332.3	-	6	1042	c.546G>A	c.(544-546)tcG>tcA	p.S182S	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Silent_p.S182S	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	182					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CCTCTTCATCCGATTGCTCAC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	132	145			NA	NA	11		NA											NA				74417568		2200	4293	6493	SO:0001819	synonymous_variant			AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938	25884	25884			24168	protein-coding gene	gene with protein product		613127			NA	12853144, 12975309	Standard		NM_015424	NA	Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.546G>A	11.37:g.74417568C>T		NA	A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	37																																																																																				CHRDL2-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000385391.1		-	ENST00000376332.3	Silent	SNP	11 : 74417568 - 74417568 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	440	64
CTNNA2	1496	broad.mit.edu	37	2	80529833	80529833	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80529833C>A	ENST00000402739.4	+	7	1061				CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000295057.3_Missense_Mutation_p.S371I|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.S371I	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	NA					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CAGGTGGCCGCTGGTGGGCTC	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	16	15			NA	NA	2		NA											NA				80529833		2194	4290	6484	SO:0001627	intron_variant				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032	1496	1496			2510	protein-coding gene	gene with protein product	cadherin-associated protein, related, cancer/testis antigen 114	114025			NA	8432524	Standard	NM_004389	NM_004389	NA	Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1057-90503C>A	2.37:g.80529833C>A		NA	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	37		.	.	.	.	.	.	.	.	.	.	C	13.02	2.111276	0.37242	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.42131	0.98;0.98	5.32	5.32	0.75619	.	0.181583	0.47093	U	0.000241	T	0.26085	0.0636	N	0.08118	0	0.50813	D	0.999893	B	0.16396	0.017	B	0.12837	0.008	T	0.08513	-1.0718	9	.	.	.	.	18.995	0.92809	0.0:1.0:0.0:0.0	.	371	Q86UE6	LRRT1_HUMAN	I	371	ENSP00000295057:S371I;ENSP00000386646:S371I	.	S	-	2	0	LRRTM1	80383344	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.825000	0.69286	2.452000	0.82932	0.655000	0.94253	AGC	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000328511.4		+	ENST00000402739.4	Intron	SNP	2 : 80529833 - 80529833 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	187	56
KMO	8564	broad.mit.edu	37	1	241713053	241713053	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241713053A>C	ENST00000366559.4	+	3	512	c.201A>C	c.(199-201)aaA>aaC	p.K67N	KMO_ENST00000366557.4_Missense_Mutation_p.K67N|KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366558.3_Missense_Mutation_p.K67N	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	67					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			AAGCCTTGAAAGCTGTTGGCC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	144	152			NA	NA	1		NA											NA				241713053		2203	4300	6503	SO:0001583	missense			AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	8564	8564	1.14.13.9		6381	protein-coding gene	gene with protein product		603538			NA	9237672	Standard	NM_003679	NM_003679	NA	Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.201A>C	1.37:g.241713053A>C	ENSP00000355517:p.Lys67Asn	NA	A2A2U8|A2A2U9|A2A2V0|Q5SY07|Q5SY08|Q5SY09	37	CCDS1618.1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.811367	0.32053	.	.	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	T;T;T	0.53857	0.6;0.6;0.6	5.37	1.66	0.24008	Monooxygenase, FAD-binding (1);	0.232106	0.49916	N	0.000129	T	0.43366	0.1244	L	0.54323	1.7	0.38500	D	0.948192	B;B;B	0.21225	0.042;0.053;0.034	B;B;B	0.30716	0.038;0.119;0.033	T	0.33828	-0.9853	10	0.52906	T	0.07	.	2.5525	0.04752	0.614:0.1547:0.0831:0.1483	.	67;67;67	O15229;A8K693;O15229-2	KMO_HUMAN;.;.	N	67	ENSP00000355517:K67N;ENSP00000355516:K67N;ENSP00000355515:K67N	ENSP00000355515:K67N	K	+	3	2	KMO	239779676	0.999000	0.42202	0.999000	0.59377	0.459000	0.32528	0.638000	0.24674	0.080000	0.16959	0.533000	0.62120	AAA	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095612.1		+	ENST00000366559.4	Missense_Mutation	SNP	1 : 241713053 - 241713053 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	590	141
VPS13D	55187	broad.mit.edu	37	1	12395787	12395787	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12395787G>A	ENST00000358136.3	+	39	8584	c.8454G>A	c.(8452-8454)tcG>tcA	p.S2818S	VPS13D_ENST00000356315.4_Silent_p.S2818S	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2818					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCAAGGAATCGTGGATGGCAG	0.408		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	136	133	134		8454,8454	-11.2	0	1		134	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	VPS13D	NM_015378.2,NM_018156.2	,	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	,	2818/4389,2818/4364	12395787	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707	55187	55187			23595	protein-coding gene	gene with protein product		608877	vacuolar protein sorting 13D (yeast)		NA		Standard	NM_015378	NM_015378	NA	Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.8454G>A	1.37:g.12395787G>A		NA	Q58F10|Q6MZK9|Q6ZV12|Q709C4|Q709C5|Q86UB4|Q9NSJ3|Q9UIM0	37	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	6.881	0.532045	0.13127	0.0	1.16E-4	ENSG00000048707	ENST00000011700	.	.	.	5.62	-11.2	0.00127	.	.	.	.	.	T	0.46870	0.1415	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63005	-0.6733	4	.	.	.	.	9.2345	0.37457	0.5866:0.251:0.1053:0.057	.	.	.	.	H	1641	.	.	R	+	2	0	VPS13D	12318374	0.000000	0.05858	0.026000	0.17262	0.978000	0.69477	-1.834000	0.01693	-3.631000	0.00129	-0.710000	0.03640	CGT	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000036897.2		+	ENST00000358136.3	Silent	SNP	1 : 12395787 - 12395787 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	516	53
ASXL3	80816	broad.mit.edu	37	18	31325027	31325027	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31325027C>T	ENST00000269197.5	+	12	5215	c.5215C>T	c.(5215-5217)Cgt>Tgt	p.R1739C		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1739					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTCAGGCTGTCGTCTGTCCTC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG	0,4064		0,0,2032	74	75	75		5215	5.9	0.7	18		75	1,8401		0,1,4200	no	missense	ASXL3	NM_030632.1	180	0,1,6232	TT,TC,CC	NA	0.0119,0.0,0.0080	probably-damaging	1739/2249	31325027	1,12465	2032	4201	6233	SO:0001583	missense			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431	80816	80816			29357	protein-coding gene	gene with protein product		615115	KIAA1713, additional sex combs like 3 (Drosophila)	KIAA1713	NA	11214970	Standard		NM_030632	NA	Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.5215C>T	18.37:g.31325027C>T	ENSP00000269197:p.Arg1739Cys	NA	Q6ZMX6|Q96MU3|Q9UFC5	37	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.413428	0.42817	0.0	1.19E-4	ENSG00000141431	ENST00000269197	T	0.17054	2.3	5.86	5.86	0.93980	.	.	.	.	.	T	0.34106	0.0886	L	0.29908	0.895	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.03068	-1.1076	9	0.66056	D	0.02	.	20.1865	0.98220	0.0:1.0:0.0:0.0	.	1739	Q9C0F0	ASXL3_HUMAN	C	1739	ENSP00000269197:R1739C	ENSP00000269197:R1739C	R	+	1	0	ASXL3	29579025	1.000000	0.71417	0.668000	0.29813	0.168000	0.22595	5.359000	0.66074	2.775000	0.95449	0.655000	0.94253	CGT	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000441865.2		+	ENST00000269197.5	Missense_Mutation	SNP	18 : 31325027 - 31325027 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	48
NYAP2	57624	broad.mit.edu	37	2	226378301	226378301	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:226378301G>A	ENST00000272907.6	+	3	849	c.436G>A	c.(436-438)Gac>Aac	p.D146N	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	146											NA						ACCCAAGAGGGACCCCAGCAC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	85	79			NA	NA	2		NA											NA				226378301		2103	4231	6334	SO:0001583	missense			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460	57624	57624			29291	protein-coding gene	gene with protein product		615478	KIAA1486	KIAA1486	NA	10819331, 21946561	Standard	NM_020864	NM_020864	NA	Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.436G>A	2.37:g.226378301G>A	ENSP00000272907:p.Asp146Asn	NA	A2RRN4|Q96NL2	37	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	G	32	5.141108	0.94560	.	.	ENSG00000144460	ENST00000272907	T	0.51574	0.7	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.66733	0.2819	L	0.58583	1.82	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	T	0.63795	-0.6556	10	0.41790	T	0.15	-20.7283	19.5365	0.95255	0.0:0.0:1.0:0.0	.	146	Q9P242	K1486_HUMAN	N	146	ENSP00000272907:D146N	ENSP00000272907:D146N	D	+	1	0	KIAA1486	226086545	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.400000	0.97290	2.614000	0.88457	0.563000	0.77884	GAC	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331258.1		+	ENST00000272907.6	Missense_Mutation	SNP	2 : 226378301 - 226378301 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	277	15
FZD3	7976	broad.mit.edu	37	8	28385340	28385340	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28385340G>A	ENST00000240093.3	+	5	1541	c.1063G>A	c.(1063-1065)Gac>Aac	p.D355N	FZD3_ENST00000537916.1_Missense_Mutation_p.D355N	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	355					canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		AATTGAAGGTGACAATATTAG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	145	146			NA	NA	8		NA											NA				28385340		2203	4300	6503	SO:0001583	missense			AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290	7976	7976		GPCR / Class F : Frizzled receptors	4041	protein-coding gene	gene with protein product		606143	frizzled (Drosophila) homolog 3, frizzled homolog 3 (Drosophila), frizzled 3, seven transmembrane spanning receptor, frizzled family receptor 3		NA	10777673, 10873558	Standard	NM_145866	NM_145866	NA	Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.1063G>A	8.37:g.28385340G>A	ENSP00000240093:p.Asp355Asn	NA		37	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558480	0.86231	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	D;D	0.85702	-2.02;-2.02	5.11	5.11	0.69529	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.92821	0.7717	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93866	0.7158	10	0.87932	D	0	.	17.0794	0.86594	0.0:0.0:1.0:0.0	.	355	Q9NPG1	FZD3_HUMAN	N	355	ENSP00000437489:D355N;ENSP00000240093:D355N	ENSP00000240093:D355N	D	+	1	0	FZD3	28441259	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.371000	0.80710	0.563000	0.77884	GAC	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219986.2		+	ENST00000240093.3	Missense_Mutation	SNP	8 : 28385340 - 28385340 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	491	100
SZT2	23334	broad.mit.edu	37	1	43912779	43912779	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43912779C>T	ENST00000562955.1	+	65	9055	c.9055C>T	c.(9055-9057)Cga>Tga	p.R3019*	SZT2_ENST00000372442.1_Nonsense_Mutation_p.R2177*	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	3076						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CACCTTTCTGCGACACTTCCT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	91	105			NA	NA	1		NA											NA				43912779		2203	4300	6503	SO:0001587	stop_gained			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198	23334	23334			29040	protein-coding gene	gene with protein product	seizure threshold 2 homolog A (mouse), seizure threshold 2 homolog B (mouse)	615463	chromosome 1 open reading frame 84, KIAA0467	C1orf84, KIAA0467	NA	9455484	Standard	NM_015284	NM_015284	NA	Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.9055C>T	1.37:g.43912779C>T	ENSP00000457168:p.Arg3019*	NA	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	37	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	49	15.568687	0.99838	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.43	3.5	0.40072	.	0.394513	0.28706	N	0.014420	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	10.1138	0.42579	0.2329:0.5971:0.17:0.0	.	.	.	.	X	2177	.	ENSP00000361519:R2177X	R	+	1	2	SZT2	43685366	1.000000	0.71417	0.801000	0.32222	0.998000	0.95712	3.002000	0.49496	0.717000	0.32145	0.655000	0.94253	CGA	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019517.3		+	ENST00000562955.1	Nonsense_Mutation	SNP	1 : 43912779 - 43912779 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	138	17
CCNE1	898	broad.mit.edu	37	19	30312955	30312955	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30312955A>G	ENST00000262643.3	+	9	1037	c.758A>G	c.(757-759)tAc>tGc	p.Y253C	CCNE1_ENST00000444983.2_Missense_Mutation_p.Y238C|CCNE1_ENST00000357943.5_Missense_Mutation_p.Y210C	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	253					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			CTGAATGTATACATGCAGGTT	0.433		NA	A		serous ovarian									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		19	19q12	898	cyclin E1		E	0													180	174	176			NA	NA	19		NA											NA				30312955		2203	4300	6503	SO:0001583	missense			M73812	CCDS12419.1	19q12	2014-07-03			ENSG00000105173	ENSG00000105173	898	898			1589	protein-coding gene	gene with protein product	cyclin Es, cyclin Et	123837		CCNE	NA	1833066	Standard	NM_001238	NM_001238	NA	Approved		uc002nsn.3	P24864	OTTHUMG00000177626	ENST00000262643.3:c.758A>G	19.37:g.30312955A>G	ENSP00000262643:p.Tyr253Cys	NA	A8K684|Q14091|Q8NFG1|Q92501|Q9UD21	37	CCDS12419.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.129424	0.77549	.	.	ENSG00000105173	ENST00000262643;ENST00000357943;ENST00000444983	T;T;T	0.23950	1.88;1.88;1.88	6.08	6.08	0.98989	Cyclin, C-terminal (1);Cyclin-like (1);	0.051716	0.85682	D	0.000000	T	0.52821	0.1758	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.58814	-0.7570	10	0.87932	D	0	.	10.985	0.47516	0.8609:0.0:0.0:0.1391	.	253	P24864	CCNE1_HUMAN	C	253;210;238	ENSP00000262643:Y253C;ENSP00000350625:Y210C;ENSP00000410179:Y238C	ENSP00000262643:Y253C	Y	+	2	0	CCNE1	35004795	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	7.330000	0.79181	2.333000	0.79357	0.482000	0.46254	TAC	CCNE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438138.1		+	ENST00000262643.3	Missense_Mutation	SNP	19 : 30312955 - 30312955 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	968	188
TOX2	84969	broad.mit.edu	37	20	42683124	42683124	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42683124C>T	ENST00000358131.5	+	5	1072	c.864C>T	c.(862-864)atC>atT	p.I288I	TOX2_ENST00000341197.4_Silent_p.I279I|TOX2_ENST00000423191.2_Silent_p.I237I|TOX2_ENST00000372999.1_Silent_p.I237I|TOX2_ENST00000435864.2_3'UTR	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TGTCCAAAATCGTGGCCTCCA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	58	60			NA	NA	20		NA											NA				42683124		2203	4300	6503	SO:0001819	synonymous_variant			BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20			84969	84969			16095	protein-coding gene	gene with protein product	granulosa cell HMG box 1	611163	chromosome 20 open reading frame 100	C20orf100	NA	14764631	Standard		NM_001098796	NA	Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.864C>T	20.37:g.42683124C>T		NA	Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	37	CCDS42875.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965003	0.34659	.	.	ENSG00000124191	ENST00000372992;ENST00000413823	.	.	.	5.44	-6.51	0.01878	.	.	.	.	.	T	0.65460	0.2693	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72253	-0.4347	5	0.87932	D	0	.	10.9044	0.47071	0.0887:0.3023:0.0:0.6089	.	.	.	.	L	45	.	ENSP00000362083:S45L	S	+	2	0	TOX2	42116538	0.002000	0.14202	0.813000	0.32504	0.767000	0.43475	-1.352000	0.02619	-1.207000	0.02637	-1.608000	0.00805	TCG	TOX2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079329.2		+	ENST00000358131.5	Silent	SNP	20 : 42683124 - 42683124 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	52
FAM120B	84498	broad.mit.edu	37	6	170628015	170628015	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170628015G>A	ENST00000476287.1	+	2	1645	c.1537G>A	c.(1537-1539)Gat>Aat	p.D513N	FAM120B_ENST00000540480.1_Missense_Mutation_p.D525N|FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Missense_Mutation_p.D536N	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	513					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		CATATGTACAGATCCTATATC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	83	82			NA	NA	6		NA											NA				170628015		2203	4300	6503	SO:0001583	missense			AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584	84498	84498			21109	protein-coding gene	gene with protein product	PPARgamma constitutive coactivator 1, constitutive coactivator of PPAR-gamma	612266	KIAA1838	KIAA1838	NA	14585507	Standard	NM_032448	NM_032448	NA	Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1537G>A	6.37:g.170628015G>A	ENSP00000417970:p.Asp513Asn	NA	Q86V68|Q96JI9	37	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.571134	0.28003	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.08282	3.12;3.11;3.13	2.48	2.48	0.30137	.	2.356560	0.01316	N	0.010789	T	0.12263	0.0298	L	0.56769	1.78	0.19575	N	0.999965	D;D	0.76494	0.999;0.978	D;P	0.68943	0.961;0.556	T	0.36792	-0.9733	10	0.21540	T	0.41	.	11.0653	0.47972	0.0:0.0:1.0:0.0	.	513;513	Q96EK7;F2Z2E1	F120B_HUMAN;.	N	525;536;513	ENSP00000444125:D525N;ENSP00000440125:D536N;ENSP00000417970:D513N	ENSP00000436640:D513N	D	+	1	0	FAM120B	170469940	0.014000	0.17966	0.011000	0.14972	0.029000	0.11900	0.501000	0.22578	1.683000	0.51011	0.561000	0.74099	GAT	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043259.2		+	ENST00000476287.1	Missense_Mutation	SNP	6 : 170628015 - 170628015 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	498	77
NT5DC2	64943	broad.mit.edu	37	3	52568642	52568642	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52568642C>A	ENST00000307076.4	-	1	428	c.28G>T	c.(28-30)Gaa>Taa	p.E10*	SMIM4_ENST00000482728.1_3'UTR	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	10							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		ATTCCTCTTTCCTGCGCAGAA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	157	156			NA	NA	3		NA											NA				52568642		2203	4300	6503	SO:0001587	stop_gained			AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268	64943	64943			25717	protein-coding gene	gene with protein product					NA	8619474, 9110174	Standard	NM_022908	NM_022908	NA	Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.28G>T	3.37:g.52568642C>A	ENSP00000302468:p.Glu10*	NA	O95888|Q96C80|Q9H9Z8	37	CCDS2858.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477394	0.84640	.	.	ENSG00000168268	ENST00000307076	.	.	.	3.04	-1.54	0.08584	.	6.254030	0.01781	U	0.031789	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	6.7943	0.23717	0.0:0.3955:0.0:0.6045	.	.	.	.	X	10	.	ENSP00000302468:E10X	E	-	1	0	NT5DC2	52543682	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.461000	0.02366	-0.387000	0.07809	-0.253000	0.11424	GAA	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351509.1		-	ENST00000307076.4	Nonsense_Mutation	SNP	3 : 52568642 - 52568642 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1192	258
IFNAR1	3454	broad.mit.edu	37	21	34725173	34725173	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34725173G>T	ENST00000270139.3	+	9	1405	c.1253G>T	c.(1252-1254)aGc>aTc	p.S418I	IFNAR1_ENST00000442357.2_Intron|IFNAR1_ENST00000416947.2_Missense_Mutation_p.S349I	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	418	Fibronectin type-III 3.				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	CTGAATAAAAGCAGTGTTTTT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(73;817 1211 32990 35667 42746)							NA				0													83	88	86			NA	NA	21		NA											NA				34725173		2203	4300	6503	SO:0001583	missense				CCDS13624.1	21q22.1	2008-05-02			ENSG00000142166	ENSG00000142166	3454	3454		Interferons	5432	protein-coding gene	gene with protein product		107450		IFNAR	NA	8181059	Standard		NM_000629	NA	Approved	IFRC	uc002yrn.3	P17181	OTTHUMG00000065126	ENST00000270139.3:c.1253G>T	21.37:g.34725173G>T	ENSP00000270139:p.Ser418Ile	NA	D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	37	CCDS13624.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088106	0.36855	.	.	ENSG00000142166	ENST00000416947;ENST00000270139	T;T	0.31769	1.48;1.48	5.38	4.39	0.52855	Fibronectin, type III (1);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	0.672052	0.15859	N	0.241111	T	0.52549	0.1741	M	0.73598	2.24	0.35803	D	0.823276	D	0.65815	0.995	D	0.68621	0.959	T	0.59144	-0.7509	10	0.35671	T	0.21	-9.2815	11.7482	0.51832	0.0:0.2872:0.7128:0.0	.	418	P17181	INAR1_HUMAN	I	349;418	ENSP00000395606:S349I;ENSP00000270139:S418I	ENSP00000270139:S418I	S	+	2	0	IFNAR1	33647043	0.998000	0.40836	0.909000	0.35828	0.041000	0.13682	1.209000	0.32357	0.982000	0.38575	0.585000	0.79938	AGC	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000139823.4		+	ENST00000270139.3	Missense_Mutation	SNP	21 : 34725173 - 34725173 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	474	44
CLOCK	9575	broad.mit.edu	37	4	56310933	56310933	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56310933A>C	ENST00000309964.4	-	18	1809	c.1559T>G	c.(1558-1560)tTa>tGa	p.L520*	CLOCK_ENST00000381322.1_Nonsense_Mutation_p.L520*|CLOCK_ENST00000513440.1_Nonsense_Mutation_p.L520*	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	520	Implicated in the circadian rhythmicity (By similarity).				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CATGGCTCCTAATTGAGCTGA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	137	144			NA	NA	4		NA											NA				56310933		2203	4300	6503	SO:0001587	stop_gained			AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852	9575	9575		Chromatin-modifying enzymes / K-acetyltransferases, Basic helix-loop-helix proteins	2082	protein-coding gene	gene with protein product		601851	clock (mouse) homolog, clock homolog (mouse)		NA	10198158	Standard	NM_004898	NM_001267843	NA	Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.1559T>G	4.37:g.56310933A>C	ENSP00000308741:p.Leu520*	NA	A0AV01|A2I2N9|O14516|Q9UIT8	37	CCDS3500.1	.	.	.	.	.	.	.	.	.	.	A	45	11.808693	0.99605	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	.	.	.	5.93	5.93	0.95920	.	0.317300	0.32533	N	0.005963	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3756	0.83387	1.0:0.0:0.0:0.0	.	.	.	.	X	520	.	ENSP00000308741:L520X	L	-	2	0	CLOCK	56005690	1.000000	0.71417	0.977000	0.42913	0.995000	0.86356	8.730000	0.91510	2.270000	0.75569	0.460000	0.39030	TTA	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361993.2		-	ENST00000309964.4	Nonsense_Mutation	SNP	4 : 56310933 - 56310933 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	260	49
DNAJB8	165721	broad.mit.edu	37	3	128181722	128181722	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128181722G>A	ENST00000469083.1	-	2	2924	c.367C>T	c.(367-369)Cgt>Tgt	p.R123C	DNAJB8_ENST00000319153.3_Missense_Mutation_p.R123C			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	123					protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		CGGCCACCACGGTCACTATTG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								A	CYS/ARG	0,4406		0,0,2203	45	48	47		367	-0.2	0	3		47	1,8599	818.9+/-406.8	0,1,4299	no	missense	DNAJB8	NM_153330.2	180	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	123/233	128181722	1,13005	2203	4300	6503	SO:0001583	missense				CCDS3048.1	3q21.3	2014-01-21			ENSG00000179407	ENSG00000179407	165721	165721		Heat shock proteins / DNAJ (HSP40)	23699	protein-coding gene	gene with protein product		611337			NA		Standard	NM_153330	NM_153330	NA	Approved	MGC33884, CT156	uc003ekk.2	Q8NHS0	OTTHUMG00000159690	ENST00000469083.1:c.367C>T	3.37:g.128181722G>A	ENSP00000417418:p.Arg123Cys	NA		37	CCDS3048.1	.	.	.	.	.	.	.	.	.	.	A	0.198	-1.046853	0.01997	0.0	1.16E-4	ENSG00000179407	ENST00000469083;ENST00000319153	T;T	0.73575	-0.76;-0.76	3.92	-0.192	0.13248	.	0.000000	0.32578	U	0.005905	T	0.54367	0.1854	L	0.34521	1.04	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.34800	-0.9814	10	0.38643	T	0.18	.	2.1147	0.03711	0.2071:0.1389:0.512:0.142	.	123	Q8NHS0	DNJB8_HUMAN	C	123	ENSP00000417418:R123C;ENSP00000316053:R123C	ENSP00000316053:R123C	R	-	1	0	DNAJB8	129664412	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.734000	0.26101	-0.869000	0.04052	-4.048000	0.00012	CGT	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356933.1		-	ENST00000469083.1	Missense_Mutation	SNP	3 : 128181722 - 128181722 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	405	63
CDK10	8558	broad.mit.edu	37	16	89759861	89759861	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89759861G>T	ENST00000331006.8	+	7	2194	c.453G>T	c.(451-453)aaG>aaT	p.K151N	CDK10_ENST00000353379.7_Missense_Mutation_p.K198N|CDK10_ENST00000505473.1_Missense_Mutation_p.K127N			Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	198	Protein kinase.				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding	p.K198N(1)		ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		TGACCCCCAAGGTGGTCACTC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											69	64	65			NA	NA	16		NA											NA				89759861		2198	4300	6498	SO:0001583	missense			L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324	8558	8558		Cyclin-dependent kinases	1770	protein-coding gene	gene with protein product		603464	cyclin-dependent kinase (CDC2-like) 10		NA	8208557, 8084611	Standard		NM_052988	NA	Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000331006.8:c.453G>T	16.37:g.89759861G>T	ENSP00000329957:p.Lys151Asn	NA	A8MXU6|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	37		.	.	.	.	.	.	.	.	.	.	G	8.841	0.942347	0.18281	.	.	ENSG00000185324	ENST00000331006;ENST00000393082;ENST00000505473;ENST00000353379	T;T;T	0.42900	0.96;0.96;0.96	4.97	2.88	0.33553	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.162260	0.52532	D	0.000066	T	0.18045	0.0433	N	0.05199	-0.095	0.49389	D	0.99978	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.12837	0.008;0.003;0.004	T	0.05451	-1.0884	10	0.17832	T	0.49	-38.7351	6.7509	0.23487	0.3406:0.0:0.6594:0.0	.	198;127;127	Q15131;Q15131-3;Q15131-4	CDK10_HUMAN;.;.	N	151;169;127;198	ENSP00000329957:K151N;ENSP00000424415:K127N;ENSP00000338673:K198N	ENSP00000329957:K151N	K	+	3	2	CDK10	88287362	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	2.674000	0.46867	1.325000	0.45301	0.655000	0.94253	AAG	CDK10-016	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000423068.1		+	ENST00000331006.8	Missense_Mutation	SNP	16 : 89759861 - 89759861 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	373	112
NCOR1	9611	broad.mit.edu	37	17	16075231	16075231	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16075231C>A	ENST00000268712.3	-	4	578	c.321G>T	c.(319-321)aaG>aaT	p.K107N	NCOR1_ENST00000395851.1_Missense_Mutation_p.K107N|NCOR1_ENST00000395848.1_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	107	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GACGTGGTCGCTTCGATTCCA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	78	83			NA	NA	17		NA											NA				16075231		2203	4300	6503	SO:0001583	missense			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027	9611	9611			7672	protein-coding gene	gene with protein product	thyroid hormone- and retinoic acid receptor-associated corepressor 1, protein phosphatase 1, regulatory subunit 109	600849	nuclear receptor co-repressor 1		NA	7566114, 9724795	Standard	NM_006311	NM_006311	NA	Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.321G>T	17.37:g.16075231C>A	ENSP00000268712:p.Lys107Asn	NA	B3DLF8|Q9UPV5|Q9UQ18	37	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.501099	0.26861	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000458113;ENST00000411510;ENST00000436828;ENST00000430577	T;T	0.57436	0.4;1.06	5.81	1.69	0.24217	.	0.000000	0.85682	D	0.000000	T	0.66386	0.2784	M	0.71036	2.16	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.997;0.999;0.995;0.996	T	0.65594	-0.6130	10	0.87932	D	0	-15.0086	8.382	0.32477	0.0:0.6346:0.0:0.3654	.	107;107;107;107;107;107	E7EU93;E7EV02;Q3B773;E7EW50;O75376;O75376-2	.;.;.;.;NCOR1_HUMAN;.	N	107	ENSP00000268712:K107N;ENSP00000379192:K107N	ENSP00000268712:K107N	K	-	3	2	NCOR1	16015956	0.999000	0.42202	0.342000	0.25602	0.745000	0.42441	0.576000	0.23744	0.384000	0.24942	-0.137000	0.14449	AAG	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131751.5		-	ENST00000268712.3	Missense_Mutation	SNP	17 : 16075231 - 16075231 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	212	34
TNXB	7148	broad.mit.edu	37	6	32016203	32016203	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32016203A>G	ENST00000375244.3	-	29	10183	c.9982T>C	c.(9982-9984)Ttc>Ctc	p.F3328L	TNXB_ENST00000375247.2_Missense_Mutation_p.F3326L			P22105	TENX_HUMAN	tenascin XB	3373	Fibronectin type-III 25.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AAGAGCAGGAACTTGTACTTG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	30	28			NA	NA	6		NA											NA				32016203		1953	4119	6072	SO:0001583	missense			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477	7148	7148		Fibrinogen C domain containing, Fibronectin type III domain containing	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2	NA	8530023	Standard	NM_019105	NM_019105	NA	Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.9982T>C	6.37:g.32016203A>G	ENSP00000364393:p.Phe3328Leu	NA	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	37		.	.	.	.	.	.	.	.	.	.	A	17.37	3.372198	0.61624	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.59906	0.23;0.23	4.34	4.34	0.51931	.	0.724493	0.12437	N	0.469004	T	0.39963	0.1098	M	0.67700	2.07	0.26896	N	0.967218	P	0.41131	0.739	B	0.40901	0.343	T	0.25984	-1.0116	10	0.38643	T	0.18	.	9.0473	0.36354	0.8142:0.1858:0.0:0.0	.	3326	P22105-3	.	L	3328;3326	ENSP00000364393:F3328L;ENSP00000364396:F3326L	ENSP00000364393:F3328L	F	-	1	0	TNXB	32124181	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	2.749000	0.47492	1.819000	0.53055	0.402000	0.26972	TTC	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000268927.2		-	ENST00000375244.3	Missense_Mutation	SNP	6 : 32016203 - 32016203 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	189	28
KIAA0895	23366	broad.mit.edu	37	7	36373480	36373480	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36373480C>A	ENST00000436884.1	-	5	1415	c.982G>T	c.(982-984)Gat>Tat	p.D328Y	KIAA0895_ENST00000317020.6_Missense_Mutation_p.D380Y|KIAA0895_ENST00000453212.1_Missense_Mutation_p.D186Y|KIAA0895_ENST00000297063.6_Missense_Mutation_p.D431Y|KIAA0895_ENST00000440378.1_Missense_Mutation_p.D428Y|KIAA0895_ENST00000338533.5_Missense_Mutation_p.D418Y|KIAA0895_ENST00000480192.1_5'UTR	NM_001199708.1	NP_001186637.1	Q8NCT3	K0895_HUMAN	KIAA0895	431										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TGGGAAGTATCAGTCCATCCC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	87	87			NA	NA	7		NA											NA				36373480		1889	4114	6003	SO:0001583	missense			BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542	23366	23366			22206	protein-coding gene	gene with protein product					NA		Standard	NM_015314	NM_015314	NA	Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000436884.1:c.982G>T	7.37:g.36373480C>A	ENSP00000389985:p.Asp328Tyr	NA	B9EGB9|O94969|Q0VGC1|Q7Z4L2	37	CCDS56482.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604059	0.87157	.	.	ENSG00000164542	ENST00000297063;ENST00000338533;ENST00000317020;ENST00000440378;ENST00000436884;ENST00000453212	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.82972	0.5153	M	0.80183	2.485	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.997	D;D;D;D;D	0.74674	0.984;0.984;0.984;0.958;0.933	D	0.85507	0.1195	9	0.87932	D	0	-21.055	18.7786	0.91922	0.0:1.0:0.0:0.0	.	428;328;431;418;380	B7ZLT4;B4DF35;Q8NCT3;Q8NCT3-2;Q8NCT3-3	.;.;K0895_HUMAN;.;.	Y	431;418;380;428;328;186	.	ENSP00000297063:D431Y	D	-	1	0	KIAA0895	36340005	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.714000	0.54889	2.515000	0.84797	0.655000	0.94253	GAT	KIAA0895-006	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337722.1		-	ENST00000436884.1	Missense_Mutation	SNP	7 : 36373480 - 36373480 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	441	29
USP25	29761	broad.mit.edu	37	21	17181187	17181187	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:17181187G>A	ENST00000285681.2	+	8	1209	c.840G>A	c.(838-840)atG>atA	p.M280I	USP25_ENST00000400183.2_Missense_Mutation_p.M280I|USP25_ENST00000285679.6_Missense_Mutation_p.M280I|USP25_ENST00000351097.5_Intron|USP25_ENST00000547201.1_3'UTR	NM_001283042.1	NP_001269971.1	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	280					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		CCTTCCAAATGAAAGCTGAAG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	71	72			NA	NA	21		NA											NA				17181187		2203	4299	6502	SO:0001583	missense			AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313	29761	29761		Ubiquitin-specific peptidases	12624	protein-coding gene	gene with protein product		604736	ubiquitin specific protease 25		NA	12838346, 10612803	Standard		NM_013396	NA	Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285681.2:c.840G>A	21.37:g.17181187G>A	ENSP00000285681:p.Met280Ile	NA	C0LSZ0|Q6DHZ9|Q9H9W1	37		.	.	.	.	.	.	.	.	.	.	G	8.674	0.903517	0.17760	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000400183	T;T;T	0.29917	1.55;1.55;1.55	4.83	3.87	0.44632	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.257684	0.45126	D	0.000399	T	0.07369	0.0186	N	0.00656	-1.285	0.32912	D	0.514673	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.13335	-1.0513	10	0.22109	T	0.4	.	3.0751	0.06243	0.085:0.242:0.4095:0.2635	.	280;280;280	Q9UHP3-3;Q9UHP3-1;Q9UHP3	.;.;UBP25_HUMAN	I	280	ENSP00000285681:M280I;ENSP00000285679:M280I;ENSP00000383044:M280I	ENSP00000285679:M280I	M	+	3	0	USP25	16103058	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.166000	0.42406	2.380000	0.81148	0.591000	0.81541	ATG	USP25-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000157963.1		+	ENST00000285681.2	Missense_Mutation	SNP	21 : 17181187 - 17181187 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	225	31
C11orf54	28970	broad.mit.edu	37	11	93487188	93487188	+	Silent	SNP	C	C	T	rs147973802		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93487188C>T	ENST00000528288.1	+	5	550	c.315C>T	c.(313-315)ctC>ctT	p.L105L	C11orf54_ENST00000354421.3_Silent_p.L105L|C11orf54_ENST00000331239.4_Silent_p.L105L|C11orf54_ENST00000540113.1_Silent_p.L86L|C11orf54_ENST00000528099.1_Silent_p.L105L	NM_014039.2	NP_054758.2	Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	105						nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTCAGACTCTCGGGTTCAATT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	94	90			NA	NA	11		NA											NA				93487188		2195	4297	6492	SO:0001819	synonymous_variant			AF092133	CCDS8294.1, CCDS66204.1, CCDS73365.1, CCDS73366.1	11q21	2012-08-09			ENSG00000182919	ENSG00000182919	28970	28970			30204	protein-coding gene	gene with protein product		615810			NA	16522806	Standard	NM_014039	NM_014039	NA	Approved	PTD012	uc001pef.3	Q9H0W9	OTTHUMG00000167452	ENST00000528288.1:c.315C>T	11.37:g.93487188C>T		NA	A8K850|Q6FI88|Q6XYB0|Q96EI3|Q96IX1|Q9Y6B4	37	CCDS8294.1																																																																																			C11orf54-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394669.2		+	ENST00000528288.1	Silent	SNP	11 : 93487188 - 93487188 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	709	117
FNDC1	84624	broad.mit.edu	37	6	159654596	159654596	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159654596G>A	ENST00000297267.9	+	11	3252	c.3052G>A	c.(3052-3054)Gga>Aga	p.G1018R	FNDC1_ENST00000340366.6_Missense_Mutation_p.G955R	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1018						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCACCACCCGGGACCCCAGAG	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	14	13			NA	NA	6		NA											NA				159654596		2053	4180	6233	SO:0001583	missense			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694	84624	84624		Fibronectin type III domain containing	21184	protein-coding gene	gene with protein product		609991	fibronectin type III domain containing 2	FNDC2	NA	11347906	Standard	NM_032532	NM_032532	NA	Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.3052G>A	6.37:g.159654596G>A	ENSP00000297267:p.Gly1018Arg	NA	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	37	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.18|13.18	2.158991|2.158991	0.38119|0.38119	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000329629|ENST00000297267;ENST00000340366	.|T;T	.|0.08102	.|3.13;3.95	4.33|4.33	-1.78|-1.78	0.07957|0.07957	.|.	1.212080|1.212080	0.05915|0.05915	N|N	0.632382|0.632382	T|T	0.01489|0.01489	0.0048|0.0048	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|B;B	.|0.24368	.|0.102;0.062	.|B;B	.|0.21151	.|0.033;0.015	T|T	0.47497|0.47497	-0.9113|-0.9113	6|10	.|0.14656	.|T	.|0.56	-1.4918|-1.4918	8.5689|8.5689	0.33556|0.33556	0.6941:0.0:0.3059:0.0|0.6941:0.0:0.3059:0.0	.|.	.|955;1018	.|Q4ZHG4-2;Q4ZHG4	.|.;FNDC1_HUMAN	E|R	913|1018;955	.|ENSP00000297267:G1018R;ENSP00000342460:G955R	.|ENSP00000297267:G1018R	G|G	+|+	2|1	0|0	FNDC1|FNDC1	159574586|159574586	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.074000|0.074000	0.17049|0.17049	0.050000|0.050000	0.14120|0.14120	-0.150000|-0.150000	0.11195|0.11195	-0.291000|-0.291000	0.09656|0.09656	GGG|GGA	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042897.3		+	ENST00000297267.9	Missense_Mutation	SNP	6 : 159654596 - 159654596 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	55	11
TIGD2	166815	broad.mit.edu	37	4	90034783	90034783	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90034783T>G	ENST00000317005.2	+	1	816	c.658T>G	c.(658-660)Tta>Gta	p.L220V		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	220	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		TGCCACAGGTTTACACAAACT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	76	75			NA	NA	4		NA											NA				90034783		2203	4300	6503	SO:0001583	missense			AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346	166815	166815			18333	protein-coding gene	gene with protein product		612973			NA		Standard	NM_145715	NM_145715	NA	Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.658T>G	4.37:g.90034783T>G	ENSP00000317170:p.Leu220Val	NA		37	CCDS3633.1	.	.	.	.	.	.	.	.	.	.	t	8.260	0.811071	0.16537	.	.	ENSG00000180346	ENST00000317005	T	0.42513	0.97	3.97	2.79	0.32731	.	0.546237	0.13764	U	0.364393	T	0.28632	0.0709	L	0.27053	0.805	0.19575	N	0.999963	B	0.31655	0.334	B	0.37780	0.258	T	0.21280	-1.0250	10	0.30078	T	0.28	-0.4011	3.2543	0.06826	0.2038:0.1127:0.0:0.6836	.	220	Q4W5G0	TIGD2_HUMAN	V	220	ENSP00000317170:L220V	ENSP00000317170:L220V	L	+	1	2	TIGD2	90253806	0.983000	0.35010	0.997000	0.53966	0.983000	0.72400	0.723000	0.25939	0.602000	0.29896	0.446000	0.29264	TTA	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253545.2		+	ENST00000317005.2	Missense_Mutation	SNP	4 : 90034783 - 90034783 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	334	68
SLC7A13	157724	broad.mit.edu	37	8	87242497	87242497	+	Missense_Mutation	SNP	C	C	T	rs146811954	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:87242497C>T	ENST00000297524.3	-	1	113	c.10G>A	c.(10-12)Ggg>Agg	p.G4R	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Missense_Mutation_p.G4R	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	4						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ATTTTCTCCCCTCTATCCATT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	43	42			NA	NA	8		NA											NA				87242497		2203	4297	6500	SO:0001583	missense			AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893	157724	157724		Solute carriers	23092	protein-coding gene	gene with protein product					NA	11907033, 11943479	Standard	NM_138817	XM_005250804	NA	Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.10G>A	8.37:g.87242497C>T	ENSP00000297524:p.Gly4Arg	NA	Q05C37|Q08AH9|Q96N84	37	CCDS34917.1	.	.	.	.	.	.	.	.	.	.	C	5.510	0.279145	0.10458	.	.	ENSG00000164893	ENST00000297524;ENST00000419776	D;D	0.90676	-2.42;-2.71	3.63	-0.275	0.12906	.	1.394900	0.04747	N	0.423834	D	0.85561	0.5725	L	0.46819	1.47	0.09310	N	1	P;B	0.35542	0.508;0.025	B;B	0.31290	0.127;0.01	T	0.72646	-0.4230	10	0.41790	T	0.15	.	6.6284	0.22843	0.0:0.568:0.0:0.432	.	4;4	Q8TCU3-2;Q8TCU3	.;S7A13_HUMAN	R	4	ENSP00000297524:G4R;ENSP00000410982:G4R	ENSP00000297524:G4R	G	-	1	0	SLC7A13	87311613	0.131000	0.22433	0.001000	0.08648	0.352000	0.29268	1.084000	0.30828	-0.075000	0.12798	0.609000	0.83330	GGG	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374704.1		-	ENST00000297524.3	Missense_Mutation	SNP	8 : 87242497 - 87242497 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	30
ECSCR	641700	broad.mit.edu	37	5	138837382	138837382	+	Silent	SNP	G	G	A	rs147720581	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138837382G>A	ENST00000515823.1	-	3	189	c.117C>T	c.(115-117)ggC>ggT	p.G39G		NM_001077693.2	NP_001071161.1	Q19T08	ECSCR_HUMAN	endothelial cell surface expressed chemotaxis and apoptosis regulator	39					angiogenesis|cell differentiation|chemotaxis	integral to membrane|plasma membrane					NA						GACTTAGACCGCCAAGGCCTC	0.557		NA											G	1	5e-04	NA	NA	2184	0.0017	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.876	LOWCOV	NA	NA	0.0039	SNP								NA				0								G		0,4100		0,0,2050	51	61	58		117	2.8	0	5	dbSNP_134	58	1,8373		0,1,4186	no	coding-synonymous	ECSCR	NM_001077693.2		0,1,6236	AA,AG,GG	NA	0.0119,0.0,0.0080		39/206	138837382	1,12473	2050	4187	6237	SO:0001819	synonymous_variant			DQ462572	CCDS75317.1	5q31.2	2012-03-21	2012-03-21			ENSG00000249751	641700	641700			35454	protein-coding gene	gene with protein product	endothelial cell-specific molecule 2, apoptosis regulator through modulating IAP expression	615736	endothelial cell-specific chemotaxis regulator		NA	18556573	Standard	NM_001077693	NM_001077693	NA	Approved	ECSM2, ARIA	uc011cze.1	Q19T08		ENST00000515823.1:c.117C>T	5.37:g.138837382G>A		NA		37																																																																																				ECSCR-002	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000372342.1		-	ENST00000515823.1	Silent	SNP	5 : 138837382 - 138837382 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	91	18
SUPT6H	6830	broad.mit.edu	37	17	27027385	27027385	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27027385C>T	ENST00000314616.6	+	35	4944	c.4661C>T	c.(4660-4662)gCc>gTc	p.A1554V	SUPT6H_ENST00000347486.4_Missense_Mutation_p.A1554V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1554					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GCTGTGAATGCCCTGCCTCAG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	126	131			NA	NA	17		NA											NA				27027385		2203	4300	6503	SO:0001583	missense			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111	6830	6830		SH2 domain containing	11470	protein-coding gene	gene with protein product		601333	suppressor of Ty (S.cerevisiae) 6 homolog		NA	8786132	Standard	NM_003170	XM_005258026	NA	Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4661C>T	17.37:g.27027385C>T	ENSP00000319104:p.Ala1554Val	NA	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	37	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.760925	0.69763	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.07	5.07	0.68467	.	0.058184	0.64402	D	0.000002	T	0.37461	0.1004	N	0.22421	0.69	0.80722	D	1	P	0.40970	0.734	B	0.31751	0.135	T	0.26326	-1.0106	9	0.31617	T	0.26	-13.4042	18.4501	0.90700	0.0:1.0:0.0:0.0	.	1554	Q7KZ85	SPT6H_HUMAN	V	1554	.	ENSP00000319104:A1554V	A	+	2	0	SUPT6H	24051512	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.209000	0.77916	2.364000	0.80123	0.650000	0.86243	GCC	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000446422.2		+	ENST00000314616.6	Missense_Mutation	SNP	17 : 27027385 - 27027385 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	839	152
SEC24C	9632	broad.mit.edu	37	10	75510920	75510920	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75510920C>A	ENST00000339365.2	+	4	389	c.227C>A	c.(226-228)gCt>gAt	p.A76D	SEC24C_ENST00000345254.4_Missense_Mutation_p.A76D|SEC24C_ENST00000411652.2_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000540668.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	76					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					ACAGCACAGGCTCCTTGTGGC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	70	74			NA	NA	10		NA											NA				75510920		2203	4300	6503	SO:0001583	missense			D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986	9632	9632			10705	protein-coding gene	gene with protein product		607185	SEC24 (S. cerevisiae) related gene family, member C, SEC24 family, member C (S. cerevisiae)		NA	10214955, 7584044	Standard		NM_004922	NA	Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.227C>A	10.37:g.75510920C>A	ENSP00000343405:p.Ala76Asp	NA	Q8WV25	37	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.990813	0.35131	.	.	ENSG00000176986	ENST00000345254;ENST00000339365	T;T	0.78246	-1.16;-1.16	5.58	1.53	0.23141	.	0.912535	0.09395	N	0.808044	T	0.54515	0.1863	N	0.08118	0	0.09310	N	0.999997	B	0.23735	0.09	B	0.23419	0.046	T	0.43540	-0.9385	10	0.35671	T	0.21	-0.3216	2.8206	0.05470	0.1174:0.4822:0.1251:0.2752	.	76	P53992	SC24C_HUMAN	D	76	ENSP00000321845:A76D;ENSP00000343405:A76D	ENSP00000343405:A76D	A	+	2	0	SEC24C	75180926	0.844000	0.29557	0.963000	0.40424	0.984000	0.73092	0.228000	0.17814	0.363000	0.24346	0.655000	0.94253	GCT	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048679.1		+	ENST00000339365.2	Missense_Mutation	SNP	10 : 75510920 - 75510920 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	223	43
SERPINA9	327657	broad.mit.edu	37	14	94935809	94935809	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94935809A>G	ENST00000337425.5	-	2	497	c.423T>C	c.(421-423)gtT>gtC	p.V141V	SERPINA9_ENST00000298845.7_Intron|SERPINA9_ENST00000448305.2_Silent_p.V43V|SERPINA9_ENST00000380365.3_Silent_p.V123V|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000546329.1_Silent_p.V105V	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	123					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CTTTGCTGGGAACAGTCAGTG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	127	126			NA	NA	14		NA											NA				94935809		2068	4222	6290	SO:0001819	synonymous_variant			AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054	327657	327657		Serine (or cysteine) peptidase inhibitors	15995	protein-coding gene	gene with protein product		615677	serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9		NA	24172014	Standard	NM_175739	NM_175739	NA	Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000337425.5:c.423T>C	14.37:g.94935809A>G		NA	B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	37	CCDS41982.1																																																																																			SERPINA9-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395757.1		-	ENST00000337425.5	Silent	SNP	14 : 94935809 - 94935809 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	708	15
RHBDF1	64285	broad.mit.edu	37	16	112988	112988	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:112988C>T	ENST00000262316.6	-	5	797	c.655G>A	c.(655-657)Gcc>Acc	p.A219T	RHBDF1_ENST00000454039.2_Missense_Mutation_p.A219T	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	219					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				AGCGCTGCGGCCGCCCGGAAG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	28	26			NA	NA	16		NA											NA				112988		2198	4294	6492	SO:0001583	missense			BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384	64285	64285			20561	protein-coding gene	gene with protein product		614403	chromosome 16 open reading frame 8, rhomboid family 1 (Drosophila)	C16orf8	NA	8318735, 15965977	Standard	NM_022450	NM_022450	NA	Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.655G>A	16.37:g.112988C>T	ENSP00000262316:p.Ala219Thr	NA	Q1W6H2|Q4TT59|Q96S34|Q9H6E1	37	CCDS32344.1	.	.	.	.	.	.	.	.	.	.	.	16.50	3.139759	0.56936	.	.	ENSG00000007384	ENST00000262316;ENST00000454039	T;T	0.70164	-0.46;-0.46	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.67887	0.2941	L	0.46157	1.445	0.80722	D	1	P;P;P	0.48162	0.778;0.906;0.529	B;P;B	0.49561	0.374;0.615;0.361	T	0.65471	-0.6160	10	0.27082	T	0.32	-12.3562	17.0258	0.86446	0.0:1.0:0.0:0.0	.	219;242;219	F5GWL4;B4E3Q0;Q96CC6	.;.;RHDF1_HUMAN	T	219	ENSP00000262316:A219T;ENSP00000392133:A219T	ENSP00000262316:A219T	A	-	1	0	RHBDF1	52988	1.000000	0.71417	0.111000	0.21465	0.256000	0.26092	7.748000	0.85085	2.243000	0.73865	0.462000	0.41574	GCC	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000134178.2		-	ENST00000262316.6	Missense_Mutation	SNP	16 : 112988 - 112988 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	229	47
LRRC8C	84230	broad.mit.edu	37	1	90179146	90179146	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90179146C>A	ENST00000370454.4	+	3	1272	c.1017C>A	c.(1015-1017)taC>taA	p.Y339*	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	339						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		ATACCTTATACTGGCTGTTCT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	71	76			NA	NA	1		NA											NA				90179146		2203	4300	6503	SO:0001587	stop_gained				CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488	84230	84230			25075	protein-coding gene	gene with protein product	hypothetical protein AD158	612889			NA	11230166	Standard	NM_032270	NM_032270	NA	Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.1017C>A	1.37:g.90179146C>A	ENSP00000359483:p.Tyr339*	NA	B3KXS9|Q29RV6|Q9H075	37	CCDS725.1	.	.	.	.	.	.	.	.	.	.	C	35	5.504666	0.96371	.	.	ENSG00000171488	ENST00000370454	.	.	.	5.86	1.92	0.25849	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1756	0.37109	0.0:0.6042:0.0:0.3958	.	.	.	.	X	339	.	ENSP00000359483:Y339X	Y	+	3	2	LRRC8C	89951734	0.985000	0.35326	1.000000	0.80357	0.997000	0.91878	0.261000	0.18442	0.821000	0.34540	0.650000	0.86243	TAC	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000028435.2		+	ENST00000370454.4	Nonsense_Mutation	SNP	1 : 90179146 - 90179146 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	29
ACTN2	88	broad.mit.edu	37	1	236914912	236914912	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236914912G>A	ENST00000366578.4	+	15	1965	c.1799G>A	c.(1798-1800)aGc>aAc	p.S600N	ACTN2_ENST00000542672.1_Missense_Mutation_p.S600N|ACTN2_ENST00000546208.1_Missense_Mutation_p.S94N	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	600					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			AACCCGTACAGCACTGTCACC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	95	101			NA	NA	1		NA											NA				236914912		2203	4300	6503	SO:0001583	missense			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522	88	88		EF-hand domain containing	164	protein-coding gene	gene with protein product		102573			NA	1339456	Standard	NM_001103	NM_001103	NA	Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1799G>A	1.37:g.236914912G>A	ENSP00000355537:p.Ser600Asn	NA	B1ANE4|Q86TF4|Q86TI8	37	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255226	0.80135	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000546208;ENST00000545611	T;T;T	0.50001	0.76;0.76;0.76	4.89	4.89	0.63831	.	0.250491	0.52532	D	0.000075	T	0.65873	0.2733	L	0.54323	1.7	0.58432	D	0.999996	B;B;B;P	0.45531	0.074;0.127;0.217;0.86	B;B;B;D	0.67382	0.31;0.386;0.405;0.951	T	0.68652	-0.5352	10	0.87932	D	0	.	18.0397	0.89315	0.0:0.0:1.0:0.0	.	385;600;370;600	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	N	600;600;94;369	ENSP00000443495:S600N;ENSP00000355537:S600N;ENSP00000438384:S94N	ENSP00000355537:S600N	S	+	2	0	ACTN2	234981535	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.701000	0.47094	2.265000	0.75225	0.563000	0.77884	AGC	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096628.1		+	ENST00000366578.4	Missense_Mutation	SNP	1 : 236914912 - 236914912 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	370	57
CHRNA4	1137	broad.mit.edu	37	20	61981707	61981707	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61981707C>T	ENST00000370263.4	-	5	1277	c.1056G>A	c.(1054-1056)gtG>gtA	p.V352V	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	352					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GCAGGCGTGGCACGATGTCCA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	78	89			NA	NA	20		NA											NA				61981707		2203	4300	6503	SO:0001819	synonymous_variant				CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204	1137	1137		Cholinergic receptors, Ligand-gated ion channels / Acetylcholine receptors, nicotinic	1958	protein-coding gene	gene with protein product	acetylcholine receptor, nicotinic, alpha 4 (neuronal)	118504	cholinergic receptor, nicotinic, alpha polypeptide 4	EBN, EBN1	NA	1505988	Standard		NM_000744	NA	Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.1056G>A	20.37:g.61981707C>T		NA	Q4JGR7|Q4VAQ6	37	CCDS13517.1																																																																																			CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080508.3		-	ENST00000370263.4	Silent	SNP	20 : 61981707 - 61981707 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	64
MEGF8	1954	broad.mit.edu	37	19	42858175	42858175	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42858175C>T	ENST00000334370.4	+	21	4444	c.3809C>T	c.(3808-3810)aCg>aTg	p.T1270M	MEGF8_ENST00000251268.6_Splice_Site_p.T1337M	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1337	CUB 2.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ACCCCCTGCACGGTGAGCACT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001630	splice_region_variant			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429	1954	1954			3233	protein-coding gene	gene with protein product	HBV pre s2 binding protein 1	604267	EGF-like-domain, multiple 4, chromosome 19 open reading frame 49	EGFL4, C19orf49	NA	9693030	Standard	NM_001410	NM_001410	NA	Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000334370.4:c.3810+1C>T	19.37:g.42858175C>T		NA	A8KAY0|O75097	37	CCDS12604.2	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584624	0.65992	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.29917	1.55;1.55	4.81	4.81	0.61882	CUB (1);	0.147023	0.44688	D	0.000436	T	0.45756	0.1358	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.951;0.997	T	0.41858	-0.9485	10	0.56958	D	0.05	-9.1631	16.8144	0.85729	0.0:1.0:0.0:0.0	.	1337;1270	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	M	1270;1337	ENSP00000334219:T1270M;ENSP00000251268:T1337M	ENSP00000251268:T1337M	T	+	2	0	MEGF8	47550015	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.297000	0.43593	2.500000	0.84329	0.655000	0.94253	ACG	MEGF8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317695.1	Missense_Mutation	+	ENST00000334370.4	Splice_Site	SNP	19 : 42858175 - 42858175 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	42	11
N4BP2	55728	broad.mit.edu	37	4	40154517	40154517	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40154517G>T	ENST00000261435.6	+	17	5677	c.5261G>T	c.(5260-5262)aGc>aTc	p.S1754I		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1754	Smr.					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						ATAAGCCATAGCTTCAGGTGA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	130	136			NA	NA	4		NA											NA				40154517		2203	4300	6503	SO:0001583	missense			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177	55728	55728			29851	protein-coding gene	gene with protein product	BCL-3 binding protein				NA	10718198, 11717310	Standard	NM_018177	NM_018177	NA	Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.5261G>T	4.37:g.40154517G>T	ENSP00000261435:p.Ser1754Ile	NA	A0AVR3|Q9NVK2|Q9P2D4	37	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.38|18.38	3.611447|3.611447	0.66558|0.66558	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|.	0.18810|.	2.19|.	5.83|5.83	0.364|0.364	0.16124|0.16124	Smr protein/MutS2 C-terminal (2);|.	0.428284|.	0.26359|.	N|.	0.024835|.	T|.	0.34513|.	0.0900|.	L|L	0.33137|0.33137	0.985|0.985	0.29688|0.29688	N|N	0.84114|0.84114	P;P|.	0.47409|.	0.872;0.895|.	P;P|.	0.57425|.	0.726;0.82|.	T|.	0.35674|.	-0.9779|.	10|.	0.72032|.	D|.	0.01|.	-0.0705|-0.0705	10.509|10.509	0.44851|0.44851	0.5059:0.0:0.4941:0.0|0.5059:0.0:0.4941:0.0	.|.	1737;1754|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	I|Y	1754;1674|1383	ENSP00000261435:S1754I|.	ENSP00000261435:S1754I|.	S|X	+|+	2|3	0|2	N4BP2|N4BP2	39830912|39830912	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.982000|0.982000	0.71751|0.71751	1.585000|1.585000	0.36600|0.36600	0.078000|0.078000	0.16900|0.16900	0.655000|0.655000	0.94253|0.94253	AGC|TAG	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250458.2		+	ENST00000261435.6	Missense_Mutation	SNP	4 : 40154517 - 40154517 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	51
GANAB	23193	broad.mit.edu	37	11	62400663	62400663	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62400663C>A	ENST00000534422.1	-	0	620				GANAB_ENST00000356638.3_Missense_Mutation_p.K237N|GANAB_ENST00000540933.1_Missense_Mutation_p.K140N|GANAB_ENST00000534779.1_Missense_Mutation_p.K145N|GANAB_ENST00000346178.4_Missense_Mutation_p.K259N			Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	NA					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						CACCATACGGCTTGCTGTCAG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(23;1005 1074 15747 18937)							NA				0													118	119	119			NA	NA	11		NA											NA				62400663		2202	4299	6501	SO:0001623	5_prime_UTR_variant			AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	23193	23193	3.2.1.20		4138	protein-coding gene	gene with protein product		104160			NA	10764838, 6342981	Standard	NM_198334	NM_198335	NA	Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000534422.1:c.-82G>T	11.37:g.62400663C>A		NA	A6NC20|Q8WTS9|Q9P0X0	37		.	.	.	.	.	.	.	.	.	.	C	13.86	2.364145	0.41902	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.90261	-2.62;-2.61;-1.95;-2.64	5.14	4.23	0.50019	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.94591	0.8257	M	0.81802	2.56	0.58432	D	0.999999	D;D;D;P	0.71674	0.998;0.998;0.982;0.938	D;D;P;P	0.75484	0.986;0.986;0.82;0.878	D	0.94050	0.7317	10	0.87932	D	0	-28.5445	10.6238	0.45495	0.0:0.834:0.0:0.166	.	123;145;237;259	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	N	259;237;145;140	ENSP00000340466:K259N;ENSP00000349053:K237N;ENSP00000435306:K145N;ENSP00000442962:K140N	ENSP00000340466:K259N	K	-	3	2	GANAB	62157239	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	0.990000	0.29642	0.763000	0.33175	-1.151000	0.01829	AAG	GANAB-008	KNOWN	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000395693.3		-	ENST00000534422.1	5'UTR	SNP	11 : 62400663 - 62400663 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	517	136
ANKS1A	23294	broad.mit.edu	37	6	34985670	34985670	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34985670C>A	ENST00000360359.3	+	11	1982	c.1844C>A	c.(1843-1845)gCt>gAt	p.A615D	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	615						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AAACCCAAAGCTGAACTCAAA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	134	128			NA	NA	6		NA											NA				34985670		2203	4300	6503	SO:0001583	missense			D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999	23294	23294		Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	20961	protein-coding gene	gene with protein product		608994	ankyrin repeat and SAM domain containing 1, ankyrin repeat and sterile alpha motif domain containing 1	ANKS1	NA	9039502	Standard	XM_166478	NM_015245	NA	Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.1844C>A	6.37:g.34985670C>A	ENSP00000353518:p.Ala615Asp	NA	A2RUC1|Q5JYI9|Q5SYR2|Q86WQ7	37	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.800076	0.50208	.	.	ENSG00000064999	ENST00000360359	T	0.39997	1.05	5.41	4.54	0.55810	.	0.000000	0.48767	D	0.000161	T	0.45657	0.1353	L	0.44542	1.39	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.51356	-0.8716	10	0.72032	D	0.01	-10.4424	12.7754	0.57443	0.0:0.9237:0.0:0.0763	.	615	Q92625	ANS1A_HUMAN	D	615	ENSP00000353518:A615D	ENSP00000353518:A615D	A	+	2	0	ANKS1A	35093648	0.980000	0.34600	0.999000	0.59377	0.996000	0.88848	2.361000	0.44160	1.416000	0.47057	0.655000	0.94253	GCT	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040262.1		+	ENST00000360359.3	Missense_Mutation	SNP	6 : 34985670 - 34985670 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1028	243
CD38	952	broad.mit.edu	37	4	15842113	15842113	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15842113C>T	ENST00000226279.3	+	7	928	c.791C>T	c.(790-792)tCg>tTg	p.S264L		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	NA					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						GAGCTGGAATCGATTATAAGC	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	91	88			NA	NA	4		NA											NA				15842113		2203	4300	6503	SO:0001583	missense			D84276	CCDS3417.1	4p15.32	2010-05-04	2006-03-28		ENSG00000004468	ENSG00000004468	952	952	3.2.2.5	CD molecules	1667	protein-coding gene	gene with protein product	ADP-ribosyl cyclase 1, NAD(+) nucleosidase	107270	CD38 antigen (p45)		NA	9074508, 2319135	Standard	NM_001775	NM_001775	NA	Approved		uc003gol.1	P28907	OTTHUMG00000048206	ENST00000226279.3:c.791C>T	4.37:g.15842113C>T	ENSP00000226279:p.Ser264Leu	NA	O00121|O00122|Q96HY4	37	CCDS3417.1	.	.	.	.	.	.	.	.	.	.	C	6.998	0.554245	0.13374	.	.	ENSG00000004468	ENST00000226279	T	0.14516	2.5	5.16	-4.45	0.03546	NAD(P)-binding domain (1);	1.842590	0.02069	N	0.051380	T	0.09069	0.0224	L	0.27053	0.805	0.09310	N	1	B	0.19445	0.036	B	0.10450	0.005	T	0.22800	-1.0206	10	0.27785	T	0.31	2.133	5.4561	0.16592	0.2315:0.2642:0.0:0.5043	.	264	P28907	CD38_HUMAN	L	264	ENSP00000226279:S264L	ENSP00000226279:S264L	S	+	2	0	CD38	15451211	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-3.692000	0.00391	-1.538000	0.01734	-0.827000	0.03088	TCG	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250322.2		+	ENST00000226279.3	Missense_Mutation	SNP	4 : 15842113 - 15842113 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	676	100
PPM1K	152926	broad.mit.edu	37	4	89199713	89199713	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89199713G>T	ENST00000608933.1	-	2	412	c.23C>A	c.(22-24)aCt>aAt	p.T8N	PPM1K_ENST00000315194.4_Missense_Mutation_p.T8N|PPM1K_ENST00000514204.1_Missense_Mutation_p.T8N|PPM1K_ENST00000508256.1_Intron|PPM1K_ENST00000295908.7_Missense_Mutation_p.T8N|PPM1K_ENST00000506423.1_5'UTR	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	NA					protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		TCTGACCAAAGTAATTAAGGC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	46	47			NA	NA	4		NA											NA				89199713		2203	4300	6503	SO:0001583	missense			BC037552	CCDS3629.1	4q22.1	2012-04-17	2010-03-05		ENSG00000163644	ENSG00000163644	152926	152926	3.1.3.16	Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent	25415	protein-coding gene	gene with protein product	PP2C-type mitochondrial phosphoprotein phosphatase, protein phosphatase 2C kappa, branched-chain &				NA					NA									NA		NA																																																																																								NA									0	0
OR5T1	390155	broad.mit.edu	37	11	56043515	56043515	+	Missense_Mutation	SNP	G	G	A	rs140678740		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56043515G>A	ENST00000313033.2	+	1	487	c.401G>A	c.(400-402)cGc>cAc	p.R134H		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GCTTATGATCGCTATGTAGCC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													217	189	198			NA	NA	11		NA											NA				56043515		2201	4294	6495	SO:0001583	missense			AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698	390155	390155		GPCR / Class A : Olfactory receptors	14821	protein-coding gene	gene with protein product				OR5T1P	NA		Standard	NM_001004745	NM_001004745	NA	Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.401G>A	11.37:g.56043515G>A	ENSP00000323612:p.Arg134His	NA	B2RNM9	37	CCDS31525.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881976	0.51908	.	.	ENSG00000181698	ENST00000313033	T	0.77489	-1.1	3.44	2.52	0.30459	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000086	T	0.79446	0.4447	M	0.90019	3.08	0.30003	N	0.815822	B	0.28552	0.215	B	0.27715	0.082	T	0.77859	-0.2431	10	0.72032	D	0.01	.	9.96	0.41691	0.1046:0.0:0.8954:0.0	.	134	Q8NG75	OR5T1_HUMAN	H	134	ENSP00000323612:R134H	ENSP00000323612:R134H	R	+	2	0	OR5T1	55800091	0.795000	0.28851	0.070000	0.20053	0.971000	0.66376	4.024000	0.57218	0.795000	0.33922	0.465000	0.42564	CGC	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391600.1		+	ENST00000313033.2	Missense_Mutation	SNP	11 : 56043515 - 56043515 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1170	181
LRP6	4040	broad.mit.edu	37	12	12312866	12312866	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12312866G>T	ENST00000543091.1	-	11	2345	c.2312C>A	c.(2311-2313)cCt>cAt	p.P771H	LRP6_ENST00000261349.4_Missense_Mutation_p.P771H			O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	771	Beta-propeller 3.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GTCTATCTTAGGTTTTCCACC	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	106	110			NA	NA	12		NA											NA				12312866		2203	4300	6503	SO:0001583	missense			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018	4040	4040		Low density lipoprotein receptors	6698	protein-coding gene	gene with protein product		603507			NA	9704021	Standard		NM_002336	NA	Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000543091.1:c.2312C>A	12.37:g.12312866G>T	ENSP00000442472:p.Pro771His	NA	Q17RZ2	37		.	.	.	.	.	.	.	.	.	.	G	22.6	4.311587	0.81358	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.96685	-4.09;-4.09	5.67	5.67	0.87782	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000009	D	0.98701	0.9564	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98922	1.0784	10	0.54805	T	0.06	.	19.7619	0.96323	0.0:0.0:1.0:0.0	.	771;771	F5H7J9;O75581	.;LRP6_HUMAN	H	771	ENSP00000261349:P771H;ENSP00000442472:P771H	ENSP00000261349:P771H	P	-	2	0	LRP6	12204133	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.681000	0.91329	0.561000	0.74099	CCT	LRP6-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000400140.1		-	ENST00000543091.1	Missense_Mutation	SNP	12 : 12312866 - 12312866 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	633	98
QRICH2	84074	broad.mit.edu	37	17	74289427	74289427	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74289427C>T	ENST00000262765.5	-	4	1062	c.883G>A	c.(883-885)Gac>Aac	p.D295N		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	295							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCATGTTGGTCTGTGCTAGGT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	137	145			NA	NA	17		NA											NA				74289427		2203	4300	6503	SO:0001583	missense			AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646	84074	84074			25326	protein-coding gene	gene with protein product					NA		Standard	NM_032134	NM_032134	NA	Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.883G>A	17.37:g.74289427C>T	ENSP00000262765:p.Asp295Asn	NA	A2RRE1|Q96LM3	37	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710551	0.30322	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.14893	2.47	3.55	2.55	0.30701	.	.	.	.	.	T	0.25975	0.0633	L	0.52364	1.645	0.09310	N	1	D;P	0.63880	0.993;0.541	P;B	0.55391	0.775;0.098	T	0.08953	-1.0697	9	0.27082	T	0.32	-6.2065	10.9542	0.47347	0.0:0.8079:0.1921:0.0	.	295;295	B5MD94;Q9H0J4	.;QRIC2_HUMAN	N	295	ENSP00000262765:D295N	ENSP00000262765:D295N	D	-	1	0	QRICH2	71801022	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.136000	0.15974	1.042000	0.40150	0.563000	0.77884	GAC	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395140.1		-	ENST00000262765.5	Missense_Mutation	SNP	17 : 74289427 - 74289427 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	523	92
REV3L	5980	broad.mit.edu	37	6	111693934	111693934	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111693934G>T	ENST00000358835.3	-	14	6078	c.5624C>A	c.(5623-5625)gCt>gAt	p.A1875D	REV3L_ENST00000368805.1_Missense_Mutation_p.A1875D|REV3L_ENST00000368802.3_Missense_Mutation_p.A1875D|REV3L_ENST00000435970.1_Missense_Mutation_p.A1797D			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1875	Mediates interaction with MAD2L2.				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CAGAATGTTAGCAGTTCGAGG	0.418		NA						DNA polymerases (catalytic subunits)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													183	189	187			NA	NA	6		NA											NA				111693934		2203	4300	6503	SO:0001583	missense			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413	5980	5980		DNA polymerases	9968	protein-coding gene	gene with protein product	polymerase, DNA, zeta	602776	REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta, REV3-like, catalytic subunit of DNA polymerase zeta (yeast)		NA	9618506, 9925914	Standard	NM_002912	NM_001286431	NA	Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5624C>A	6.37:g.111693934G>T	ENSP00000351697:p.Ala1875Asp	NA	O43214|Q5TC33	37	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	17.88	3.498395	0.64298	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01613	4.82;4.82;4.82;4.73	5.93	5.93	0.95920	Ribonuclease H-like (1);	0.125034	0.56097	D	0.000040	T	0.02012	0.0063	L	0.44542	1.39	0.42120	D	0.991422	D	0.63880	0.993	P	0.56343	0.796	T	0.70292	-0.4912	10	0.15499	T	0.54	-5.523	13.5241	0.61584	0.0709:0.0:0.9291:0.0	.	1875	O60673	DPOLZ_HUMAN	D	1875;1875;1875;1797	ENSP00000357792:A1875D;ENSP00000357795:A1875D;ENSP00000351697:A1875D;ENSP00000402003:A1797D	ENSP00000351697:A1875D	A	-	2	0	REV3L	111800627	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.631000	0.83237	2.805000	0.96524	0.655000	0.94253	GCT	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043695.1		-	ENST00000358835.3	Missense_Mutation	SNP	6 : 111693934 - 111693934 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	972	181
COL4A2	1284	broad.mit.edu	37	13	111130421	111130421	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111130421G>T	ENST00000360467.5	+	30	2803	c.2497G>T	c.(2497-2499)Ggc>Tgc	p.G833C		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	833	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CGGCCAGCCAGGCCTGTATGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	25	24			NA	NA	13		NA											NA				111130421		1867	4088	5955	SO:0001583	missense			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871	1284	1284		Collagens	2203	protein-coding gene	gene with protein product	canstatin, collagen type IV alpha 2	120090			NA	2439508, 3025878	Standard	NM_001846	NM_001846	NA	Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.2497G>T	13.37:g.111130421G>T	ENSP00000353654:p.Gly833Cys	NA	Q14052|Q548C3|Q5VZA9|Q66K23	37	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.740068	0.30865	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.99637	-6.29	4.21	4.21	0.49690	.	0.000000	0.48286	D	0.000190	D	0.99813	0.9918	H	0.99444	4.57	0.54753	D	0.999987	D	0.56746	0.977	D	0.68353	0.957	D	0.96546	0.9404	10	0.87932	D	0	.	13.9129	0.63878	0.0:0.0:1.0:0.0	.	833	P08572	CO4A2_HUMAN	C	833	ENSP00000353654:G833C	ENSP00000257309:G833C	G	+	1	0	COL4A2	109928422	1.000000	0.71417	0.187000	0.23214	0.413000	0.31143	6.597000	0.74118	2.072000	0.62099	0.499000	0.49734	GGC	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045761.2		+	ENST00000360467.5	Missense_Mutation	SNP	13 : 111130421 - 111130421 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	204	42
AHCTF1	25909	broad.mit.edu	37	1	247040288	247040288	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247040288G>T	ENST00000366508.1	-	23	3142	c.3006C>A	c.(3004-3006)gcC>gcA	p.A1002A	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Silent_p.A967A|AHCTF1_ENST00000326225.3_Silent_p.A976A			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	967					cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TCAGCTTCAAGGCAGGCACAT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(145;197 1800 4745 15099 26333)							NA				0													86	84	85			NA	NA	1		NA											NA				247040288		2203	4300	6503	SO:0001819	synonymous_variant				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207	25909	25909			24618	protein-coding gene	gene with protein product	ELYS transcription factor like protein TMBS62	610853			NA	11952839	Standard	NM_015446	NM_015446	NA	Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000366508.1:c.3006C>A	1.37:g.247040288G>T		NA	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	37																																																																																				AHCTF1-001	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000097817.1		-	ENST00000366508.1	Silent	SNP	1 : 247040288 - 247040288 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	415	78
ZNF681	148213	broad.mit.edu	37	19	23927387	23927387	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23927387G>A	ENST00000402377.3	-	4	1106	c.965C>T	c.(964-966)tCc>tTc	p.S322F	ZNF681_ENST00000395385.3_Missense_Mutation_p.S253F	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AAGGTGTGAGGACTGGTTGAA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	113	114			NA	NA	19		NA											NA				23927387		2203	4300	6503	SO:0001583	missense			AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172	148213	148213		Zinc fingers, C2H2-type, -	26457	protein-coding gene	gene with protein product	hypothetical protein FLJ31526				NA		Standard	NM_138286	NM_138286	NA	Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.965C>T	19.37:g.23927387G>A	ENSP00000384000:p.Ser322Phe	NA	B3KVF7	37	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	0.047	-1.263283	0.01445	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.16196	2.36;2.36	0.946	0.946	0.19549	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15392	0.0371	M	0.66506	2.035	0.09310	N	1	B	0.25850	0.136	B	0.24394	0.053	T	0.26189	-1.0110	9	0.25106	T	0.35	.	4.1271	0.10133	0.0:0.0:0.5976:0.4023	.	322	Q96N22	ZN681_HUMAN	F	322;253	ENSP00000384000:S322F;ENSP00000378783:S253F	ENSP00000378783:S253F	S	-	2	0	ZNF681	23719227	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-6.620000	0.00059	0.798000	0.33994	0.313000	0.20887	TCC	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320248.2		-	ENST00000402377.3	Missense_Mutation	SNP	19 : 23927387 - 23927387 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	388	61
RAB3D	9545	broad.mit.edu	37	19	11447893	11447893	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11447893G>A	ENST00000222120.3	-	2	443	c.183C>T	c.(181-183)gtC>gtT	p.V61V	RAB3D_ENST00000589655.1_Silent_p.V61V	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	61					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						AGACGGTCTTGACCTTGAAAT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													237	211	220			NA	NA	19		NA											NA				11447893		2203	4300	6503	SO:0001819	synonymous_variant			AF081353	CCDS12257.1	19p13.2	2012-10-02			ENSG00000105514	ENSG00000105514	9545	9545		RAB, member RAS oncogene	9779	protein-coding gene	gene with protein product	Rab3D upregulated with myeloid differentiation, glioblastoma overexpressed	604350		GOV	NA	10023084, 10072586	Standard	NM_004283	NM_004283	NA	Approved	RAB16, D2-2, RAD3D	uc002mqx.3	O95716	OTTHUMG00000180835	ENST00000222120.3:c.183C>T	19.37:g.11447893G>A		NA		37	CCDS12257.1																																																																																			RAB3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453211.1		-	ENST00000222120.3	Silent	SNP	19 : 11447893 - 11447893 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1592	310
ESR1	2099	broad.mit.edu	37	6	152415580	152415580	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152415580G>T	ENST00000206249.3	+	7	1792	c.1430G>T	c.(1429-1431)cGa>cTa	p.R477L	ESR1_ENST00000406599.1_Missense_Mutation_p.R216L|ESR1_ENST00000456483.2_Missense_Mutation_p.R365L|ESR1_ENST00000427531.2_Intron|ESR1_ENST00000338799.5_Missense_Mutation_p.R477L|ESR1_ENST00000440973.1_Missense_Mutation_p.R477L|ESR1_ENST00000443427.1_Missense_Mutation_p.R477L	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	477	Interaction with AKAP13.|Steroid-binding.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	CATATCCACCGAGTCCTGGAC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	103	107			NA	NA	6		NA											NA				152415580		2203	4300	6503	SO:0001583	missense			X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831	2099	2099		Nuclear hormone receptors	3467	protein-coding gene	gene with protein product		133430		ESR	NA	3754034	Standard		NM_000125	NA	Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.1430G>T	6.37:g.152415580G>T	ENSP00000206249:p.Arg477Leu	NA	Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	37	CCDS5234.1	.	.	.	.	.	.	.	.	.	.	G	8.983	0.975929	0.18736	.	.	ENSG00000091831	ENST00000440973;ENST00000338799;ENST00000456483;ENST00000443427;ENST00000206249;ENST00000406599;ENST00000431590	D;D;D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17;-4.17;-4.17	5.43	5.43	0.79202	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.415582	0.26903	N	0.021920	D	0.84343	0.5451	N	0.11673	0.155	0.80722	D	1	B;B;P;P;B;B;B	0.46656	0.005;0.003;0.681;0.882;0.003;0.001;0.001	B;B;B;B;B;B;B	0.39465	0.011;0.004;0.105;0.3;0.009;0.002;0.004	D	0.87067	0.2157	10	0.08599	T	0.76	.	14.1322	0.65263	0.0:0.0:0.8499:0.1501	.	42;172;216;404;476;477;477	B5LY05;C8CJL6;Q9H2M1;B4E3R5;A8KAF4;G4XH65;P03372	.;.;.;.;.;.;ESR1_HUMAN	L	477;477;365;477;477;216;405	ENSP00000405330:R477L;ENSP00000342630:R477L;ENSP00000415934:R365L;ENSP00000387500:R477L;ENSP00000206249:R477L;ENSP00000384064:R216L	ENSP00000206249:R477L	R	+	2	0	ESR1	152457273	0.915000	0.31059	0.948000	0.38648	0.986000	0.74619	2.868000	0.48436	2.555000	0.86185	0.555000	0.69702	CGA	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043308.1		+	ENST00000206249.3	Missense_Mutation	SNP	6 : 152415580 - 152415580 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	512	103
PKLR	5313	broad.mit.edu	37	1	155264395	155264395	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155264395G>A	ENST00000392414.3	-	6	863	c.750C>T	c.(748-750)gaC>gaT	p.D250D	PKLR_ENST00000342741.4_Silent_p.D281D	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	281					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CAAAGACGATGTCCACCCCAT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	75	78			NA	NA	1		NA											NA				155264395		2203	4300	6503	SO:0001819	synonymous_variant			BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	5313	5313	2.7.1.40		9020	protein-coding gene	gene with protein product		609712			NA	3566732	Standard	NM_000298	NM_000298	NA	Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000392414.3:c.750C>T	1.37:g.155264395G>A		NA	P11973	37	CCDS44240.1																																																																																			PKLR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087408.2		-	ENST00000392414.3	Silent	SNP	1 : 155264395 - 155264395 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	32
NUMA1	4926	broad.mit.edu	37	11	71720154	71720154	+	Missense_Mutation	SNP	C	C	A	rs148604464		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71720154C>A	ENST00000393695.3	-	19	5248	c.4917G>T	c.(4915-4917)gaG>gaT	p.E1639D	NUMA1_ENST00000358965.6_Missense_Mutation_p.E1625D|NUMA1_ENST00000351960.6_Missense_Mutation_p.E503D	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1639					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCTGCAGCTGCTCCAGGCTCC	0.567		NA	T	RARA	APL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497	NA	4926			8059	protein-coding gene	gene with protein product		164009			NA	8406455	Standard		NM_006185	NA	Approved		uc001orl.1	Q14980		ENST00000393695.3:c.4917G>T	11.37:g.71720154C>A	ENSP00000377298:p.Glu1639Asp	NA	Q14981	37	CCDS31633.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.82|13.82	2.352129|2.352129	0.41700|0.41700	.|.	.|.	ENSG00000137497|ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544|ENST00000541584	T;T;T|.	0.44083|.	2.04;0.93;2.42|.	5.24|5.24	4.33|4.33	0.51752|0.51752	.|.	0.000000|.	0.49305|.	D|.	0.000142|.	T|T	0.40171|0.40171	0.1106|0.1106	L|L	0.32530|0.32530	0.975|0.975	0.32596|0.32596	N|N	0.526508|0.526508	D;D;D;D;D|.	0.76494|.	0.998;0.999;0.999;0.998;0.996|.	D;D;D;D;D|.	0.83275|.	0.99;0.996;0.994;0.99;0.987|.	T|T	0.49744|0.49744	-0.8907|-0.8907	10|5	0.37606|.	T|.	0.19|.	.|.	8.4599|8.4599	0.32921|0.32921	0.0:0.7626:0.0:0.2374|0.0:0.7626:0.0:0.2374	.|.	1645;1109;1625;1639;503|.	Q4LE64;Q59HB8;Q14980-2;Q14980;Q9BTE9|.	.;.;.;NUMA1_HUMAN;.|.	D|I	503;1625;1639;1188;594|470	ENSP00000260051:E503D;ENSP00000351851:E1625D;ENSP00000377298:E1639D|.	ENSP00000260051:E503D|.	E|S	-|-	3|2	2|0	NUMA1|NUMA1	71397802|71397802	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.471000|0.471000	0.32888|0.32888	1.788000|1.788000	0.38714|0.38714	1.206000|1.206000	0.43276|0.43276	0.561000|0.561000	0.74099|0.74099	GAG|AGC	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395769.1		-	ENST00000393695.3	Missense_Mutation	SNP	11 : 71720154 - 71720154 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	61
OR5P2	120065	broad.mit.edu	37	11	7818353	7818353	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7818353C>A	ENST00000329434.2	-	1	167	c.137G>T	c.(136-138)aGa>aTa	p.R46I	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGAAGAAATTCTGATAAGAAT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	75	70			NA	NA	11		NA											NA				7818353		2102	4292	6394	SO:0001583	missense			AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303	120065	120065		GPCR / Class A : Olfactory receptors	14783	protein-coding gene	gene with protein product					NA		Standard	NM_153444	NM_153444	NA	Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.137G>T	11.37:g.7818353C>A	ENSP00000331823:p.Arg46Ile	NA	Q3MIS8	37	CCDS7782.1	.	.	.	.	.	.	.	.	.	.	C	7.679	0.688518	0.14973	.	.	ENSG00000183303	ENST00000329434	T	0.02863	4.13	5.5	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.157917	0.45361	D	0.000368	T	0.02727	0.0082	L	0.33093	0.98	0.39969	D	0.974769	B	0.23854	0.092	B	0.24269	0.052	T	0.52034	-0.8629	10	0.30854	T	0.27	-18.3288	7.6182	0.28171	0.0:0.749:0.1654:0.0856	.	46	Q8WZ92	OR5P2_HUMAN	I	46	ENSP00000331823:R46I	ENSP00000331823:R46I	R	-	2	0	OR5P2	7774929	0.010000	0.17322	0.986000	0.45419	0.040000	0.13550	0.158000	0.16422	1.564000	0.49628	0.555000	0.69702	AGA	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385696.1		-	ENST00000329434.2	Missense_Mutation	SNP	11 : 7818353 - 7818353 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	65
ADCY3	109	broad.mit.edu	37	2	25050811	25050811	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25050811C>T	ENST00000405392.1	-	11	1332	c.1153G>A	c.(1153-1155)Gtc>Atc	p.V385I	ADCY3_ENST00000450524.1_5'UTR|ADCY3_ENST00000260600.5_Missense_Mutation_p.V798I			O60266	ADCY3_HUMAN	adenylate cyclase 3	798					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TCATCAAAGACGGGACGCCAG	0.577		NA									OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ILE/VAL	0,4406		0,0,2203	100	91	94		2392	-0.7	0.9	2		94	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADCY3	NM_004036.3	29	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign	798/1145	25050811	1,13005	2203	4300	6503	SO:0001583	missense			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	109	109	4.6.1.1	Adenylate cyclases	234	protein-coding gene	gene with protein product		600291			NA	9920776	Standard		NM_004036	NA	Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000405392.1:c.1153G>A	2.37:g.25050811C>T	ENSP00000384484:p.Val385Ile	776	Q53T54|Q9UDB1	37		.	.	.	.	.	.	.	.	.	.	C	1.052	-0.675471	0.03378	0.0	1.16E-4	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879;ENST00000455323;ENST00000450524	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.38	-0.709	0.11237	.	0.251516	0.42964	N	0.000624	T	0.25938	0.0632	N	0.00677	-1.265	0.29688	N	0.841193	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.22382	-1.0218	10	0.15952	T	0.53	.	13.8019	0.63206	0.0:0.1043:0.0:0.8957	.	798;798;385	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	I	798;385;773;137;141	ENSP00000260600:V798I;ENSP00000384484:V385I;ENSP00000402008:V137I;ENSP00000410972:V141I	ENSP00000260600:V798I	V	-	1	0	ADCY3	24904315	1.000000	0.71417	0.926000	0.36857	0.006000	0.05464	2.103000	0.41806	-0.280000	0.09154	-1.910000	0.00522	GTC	ADCY3-201	KNOWN	basic|exp_conf	protein_coding	NA	protein_coding			-	ENST00000405392.1	Missense_Mutation	SNP	2 : 25050811 - 25050811 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	482	103
CKM	1158	broad.mit.edu	37	19	45810739	45810739	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45810739C>T	ENST00000221476.3	-	7	1121	c.947G>A	c.(946-948)cGt>cAt	p.R316H		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	316	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	CTTCTGCAGACGCAGGCGGGT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	57	58			NA	NA	19		NA											NA				45810739		2203	4300	6503	SO:0001583	missense			M14780	CCDS12659.1	19q13.32	2012-10-02			ENSG00000104879	ENSG00000104879	1158	1158	2.7.3.2		1994	protein-coding gene	gene with protein product		123310		CKMM	NA		Standard		NM_001824	NA	Approved		uc002pbd.4	P06732		ENST00000221476.3:c.947G>A	19.37:g.45810739C>T	ENSP00000221476:p.Arg316His	NA	Q96QL9	37	CCDS12659.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834522	0.91036	.	.	ENSG00000104879	ENST00000221476	T	0.23754	1.89	5.3	5.3	0.74995	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.050664	0.85682	N	0.000000	T	0.52484	0.1737	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.53774	-0.8391	10	0.51188	T	0.08	-38.8761	16.4485	0.83972	0.0:1.0:0.0:0.0	.	316	P06732	KCRM_HUMAN	H	316	ENSP00000221476:R316H	ENSP00000221476:R316H	R	-	2	0	CKM	50502579	1.000000	0.71417	0.999000	0.59377	0.903000	0.53119	6.049000	0.71053	2.500000	0.84329	0.561000	0.74099	CGT	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457569.1		-	ENST00000221476.3	Missense_Mutation	SNP	19 : 45810739 - 45810739 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	146	15
LATS2	26524	broad.mit.edu	37	13	21562824	21562824	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21562824G>T	ENST00000382592.4	-	4	1500	c.1095C>A	c.(1093-1095)acC>acA	p.T365T	LATS2_ENST00000542899.1_Silent_p.T365T	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	365					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GCTGGACGGAGGTGCTGCCCA	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	25	24			NA	NA	13		NA											NA				21562824		2164	4169	6333	SO:0001819	synonymous_variant			AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457	26524	26524			6515	protein-coding gene	gene with protein product		604861	LATS (large tumor suppressor, Drosophila) homolog 2, LATS, large tumor suppressor, homolog 2 (Drosophila)		NA	10673337	Standard		NM_014572	NA	Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.1095C>A	13.37:g.21562824G>T		NA	B1AM47|Q9P2X1	37	CCDS9294.1																																																																																			LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044102.1		-	ENST00000382592.4	Silent	SNP	13 : 21562824 - 21562824 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	279	31
KIFC3	3801	broad.mit.edu	37	16	57798095	57798095	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57798095G>A	ENST00000543930.1	-	10	1711	c.1151C>T	c.(1150-1152)gCg>gTg	p.A384V	KIFC3_ENST00000379655.4_Missense_Mutation_p.A526V|KIFC3_ENST00000540079.2_Missense_Mutation_p.A424V|KIFC3_ENST00000465878.2_Missense_Mutation_p.A387V|KIFC3_ENST00000539578.1_Missense_Mutation_p.A468V|KIFC3_ENST00000421376.2_Missense_Mutation_p.A387V|KIFC3_ENST00000445690.2_Missense_Mutation_p.A526V|KIFC3_ENST00000562903.1_Missense_Mutation_p.A387V|KIFC3_ENST00000541240.1_Missense_Mutation_p.A548V			Q9BVG8	KIFC3_HUMAN	kinesin family member C3	526					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				CTGGCCGTACGCAAAGATGCA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	59	63			NA	NA	16		NA											NA				57798095		2198	4300	6498	SO:0001583	missense			BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859	3801	3801		Kinesins	6326	protein-coding gene	gene with protein product		604535			NA	9782090	Standard	NM_005550	NM_001130099	NA	Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000543930.1:c.1151C>T	16.37:g.57798095G>A	ENSP00000444012:p.Ala384Val	NA	O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	37		.	.	.	.	.	.	.	.	.	.	g	23.9	4.475183	0.84640	.	.	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000421376;ENST00000541240;ENST00000540079;ENST00000543930;ENST00000539578	T;T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51;0.51	5.02	5.02	0.67125	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	T	0.74935	0.3782	M	0.83953	2.67	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.75020	0.971;0.951;0.98;0.975;0.985;0.971;0.959	T	0.79773	-0.1662	10	0.87932	D	0	.	17.3476	0.87314	0.0:0.0:1.0:0.0	.	548;468;384;424;231;526;387	B7Z484;F5H4I9;B7Z896;F5H3M2;B7Z3I6;Q9BVG8;A8K6S2	.;.;.;.;.;KIFC3_HUMAN;.	V	526;526;387;548;424;384;468	ENSP00000368976:A526V;ENSP00000401696:A526V;ENSP00000396399:A387V;ENSP00000442008:A548V;ENSP00000438805:A424V;ENSP00000444012:A384V;ENSP00000444884:A468V	ENSP00000368976:A526V	A	-	2	0	KIFC3	56355596	1.000000	0.71417	0.908000	0.35775	0.289000	0.27227	9.820000	0.99359	2.345000	0.79718	0.552000	0.68991	GCG	KIFC3-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000432168.1		-	ENST00000543930.1	Missense_Mutation	SNP	16 : 57798095 - 57798095 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	338	48
EIF4G1	1981	broad.mit.edu	37	3	184040619	184040619	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184040619G>T	ENST00000392537.2	+	10	1792	c.1545G>T	c.(1543-1545)aaG>aaT	p.K515N	EIF4G1_ENST00000319274.6_Missense_Mutation_p.K602N|EIF4G1_ENST00000342981.4_Missense_Mutation_p.K602N|EIF4G1_ENST00000441154.1_Missense_Mutation_p.K438N|EIF4G1_ENST00000411531.1_Missense_Mutation_p.K562N|EIF4G1_ENST00000435046.2_Missense_Mutation_p.K406N|EIF4G1_ENST00000414031.1_Missense_Mutation_p.K562N|EIF4G1_ENST00000346169.2_Missense_Mutation_p.K602N|EIF4G1_ENST00000427845.1_Missense_Mutation_p.K515N|EIF4G1_ENST00000350481.5_Missense_Mutation_p.K438N|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000424196.1_Missense_Mutation_p.K609N|EIF4G1_ENST00000434061.2_Missense_Mutation_p.K406N|EIF4G1_ENST00000352767.3_Missense_Mutation_p.K609N|EIF4G1_ENST00000382330.3_Missense_Mutation_p.K609N	NM_198244.2	NP_937887	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	602					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATCAGTGGAAGCCTCTAAACC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	146	148			NA	NA	3		NA											NA				184040619		2203	4300	6503	SO:0001583	missense			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867	1981	1981		Parkinson disease	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F	NA	1429670, 9372926, 21907011	Standard	NM_182917	NM_182917	NA	Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000392537.2:c.1545G>T	3.37:g.184040619G>T	ENSP00000376320:p.Lys515Asn	NA	D3DNT4|D3DNT5|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	37	CCDS3260.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132163	0.56828	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.4	4.53	0.55603	.	0.048738	0.85682	D	0.000000	T	0.56140	0.1965	M	0.62016	1.91	0.58432	D	0.999993	D;D;D;D	0.56287	0.975;0.975;0.957;0.975	P;P;P;P	0.57468	0.821;0.821;0.65;0.821	T	0.55036	-0.8203	10	0.36615	T	0.2	-16.0527	8.6956	0.34293	0.2243:0.0:0.7757:0.0	.	609;602;602;609	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	N	602;562;515;602;609;609;543;438;609;515;602;602;609;562;438;438;406;406	ENSP00000316879:K602N;ENSP00000391935:K562N;ENSP00000376320:K515N;ENSP00000391412:K602N;ENSP00000413159:K609N;ENSP00000371767:K609N;ENSP00000403269:K543N;ENSP00000317600:K438N;ENSP00000338020:K609N;ENSP00000407682:K515N;ENSP00000343450:K602N;ENSP00000323737:K602N;ENSP00000416255:K609N;ENSP00000395974:K562N;ENSP00000398145:K438N;ENSP00000399858:K438N;ENSP00000411826:K406N;ENSP00000404754:K406N	ENSP00000323737:K602N	K	+	3	2	EIF4G1	185523313	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.556000	0.45862	1.525000	0.49052	0.563000	0.77884	AAG	EIF4G1-003	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345729.2		+	ENST00000392537.2	Missense_Mutation	SNP	3 : 184040619 - 184040619 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	629	126
HYDIN	54768	broad.mit.edu	37	16	70841708	70841708	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70841708A>G	ENST00000393567.2	-	86	15291	c.15141T>C	c.(15139-15141)taT>taC	p.Y5047Y		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5047										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCACCATGTGATAGAAGACAT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	124	123			NA	NA	16		NA											NA				70841708		2036	4203	6239	SO:0001819	synonymous_variant			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423	54768	54768		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	19368	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 31	610812	hydrocephalus inducing, hydrocephalus inducing homolog (mouse)		NA	12719380, 23022101	Standard		NM_001198542	NA	Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.15141T>C	16.37:g.70841708A>G		NA	A6NC70|A6NLZ0|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	37	CCDS59269.1																																																																																			HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398624.3		-	ENST00000393567.2	Silent	SNP	16 : 70841708 - 70841708 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	16
CYP2D6	1565	broad.mit.edu	37	22	42525823	42525823	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42525823G>A	ENST00000360608.5	-	2	383	c.269C>T	c.(268-270)gCg>gTg	p.A90V	CYP2D6_ENST00000389970.3_Missense_Mutation_p.A90V|CYP2D6_ENST00000359033.4_Missense_Mutation_p.A90V|NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000439129.1_RNA	NM_000106.5	NP_000097	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	90							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGTCACCAGCGCCTCGCGCAC	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	14	13			NA	NA	22		NA											NA				42525823		2161	4193	6354	SO:0001583	missense			M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197	1565	1565		Cytochrome P450s	2625	protein-coding gene	gene with protein product		124030	cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6, cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2, cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2, cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2, cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP	NA	8449513	Standard		NM_000106	NA	Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.269C>T	22.37:g.42525823G>A	ENSP00000353820:p.Ala90Val	NA		37	CCDS46721.1	.	.	.	.	.	.	.	.	.	.	g	15.35	2.808652	0.50421	.	.	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640;ENST00000359033;ENST00000542856	T;T;T	0.61510	0.1;0.1;0.1	3.46	2.44	0.29823	.	0.000000	0.64402	D	0.000001	T	0.50411	0.1614	L	0.43554	1.36	0.58432	D	0.999999	P;P	0.49447	0.734;0.924	P;B	0.47626	0.552;0.313	T	0.40117	-0.9580	10	0.19147	T	0.46	.	10.2971	0.43631	0.1036:0.0:0.8964:0.0	.	90;90	Q6NXU8;Q6NWU0	.;.	V	90;90;39;90;90	ENSP00000353820:A90V;ENSP00000374620:A90V;ENSP00000351927:A90V	ENSP00000351927:A90V	A	-	2	0	CYP2D6	40855767	1.000000	0.71417	0.987000	0.45799	0.254000	0.26022	4.625000	0.61262	1.022000	0.39626	0.484000	0.47621	GCG	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320525.1		-	ENST00000360608.5	Missense_Mutation	SNP	22 : 42525823 - 42525823 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	245	38
TMEM59	9528	broad.mit.edu	37	1	54518711	54518711	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54518711C>T	ENST00000234831.5	-	1	400	c.151G>A	c.(151-153)Gcc>Acc	p.A51T	TMEM59_ENST00000371341.1_Intron|TMEM59_ENST00000371337.3_Missense_Mutation_p.A51T	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN	transmembrane protein 59	51						Golgi membrane|integral to membrane				kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						AACTGACAGGCCCGGTGGCAA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	77	75			NA	NA	1		NA											NA				54518711		2203	4300	6503	SO:0001583	missense			AF047439	CCDS586.1	1p32.3	2008-05-14	2005-07-22	2005-07-22	ENSG00000116209	ENSG00000116209	9528	9528			1239	protein-coding gene	gene with protein product			chromosome 1 open reading frame 8	C1orf8	NA	9653160	Standard	NM_004872	NM_004872	NA	Approved	HSPC001	uc001cwp.3	Q9BXS4	OTTHUMG00000008437	ENST00000234831.5:c.151G>A	1.37:g.54518711C>T	ENSP00000234831:p.Ala51Thr	NA	B3KQL7|O75393|Q4VBP9|Q5T705|Q96KX7	37	CCDS586.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.074046	0.36566	.	.	ENSG00000116209	ENST00000234831;ENST00000371338;ENST00000452421;ENST00000371337	T;T;T	0.44881	0.94;0.95;0.91	5.12	5.12	0.69794	.	0.234093	0.44285	D	0.000470	T	0.23370	0.0565	N	0.16368	0.405	0.40796	D	0.98329	B;B;B;B	0.22276	0.067;0.067;0.01;0.01	B;B;B;B	0.17098	0.017;0.008;0.003;0.002	T	0.07751	-1.0756	10	0.05351	T	0.99	-16.0678	13.0808	0.59114	0.0:0.9235:0.0:0.0765	.	51;51;51;51	E9PGZ9;Q5T704;D3DQ48;Q9BXS4	.;.;.;TMM59_HUMAN	T	51	ENSP00000234831:A51T;ENSP00000397772:A51T;ENSP00000360388:A51T	ENSP00000234831:A51T	A	-	1	0	TMEM59	54291299	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	1.736000	0.38187	2.653000	0.90120	0.655000	0.94253	GCC	TMEM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000023254.2		-	ENST00000234831.5	Missense_Mutation	SNP	1 : 54518711 - 54518711 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	443	80
CLEC4F	165530	broad.mit.edu	37	2	71046523	71046523	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71046523C>T	ENST00000426626.1	-	3	255	c.232G>A	c.(232-234)Gac>Aac	p.D78N	CLEC4F_ENST00000272367.2_Missense_Mutation_p.D78N			Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	78					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GTAATGTTGTCTCCCAGAATT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(107;10 2157 6841 26035)							NA				0													130	111	117			NA	NA	2		NA											NA				71046523		2203	4300	6503	SO:0001583	missense			AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672	165530	165530		C-type lectin domain containing	25357	protein-coding gene	gene with protein product			C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13	CLECSF13	NA	8889548, 1846367	Standard	NM_173535	NM_001258027	NA	Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000426626.1:c.232G>A	2.37:g.71046523C>T	ENSP00000390581:p.Asp78Asn	NA		37		.	.	.	.	.	.	.	.	.	.	C	15.38	2.816019	0.50527	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.01963	4.58;4.53	3.59	-0.488	0.12056	.	1.740840	0.03574	N	0.229119	T	0.02012	0.0063	L	0.43152	1.355	0.09310	N	1	B;B	0.21821	0.061;0.061	B;B	0.13407	0.009;0.009	T	0.45220	-0.9276	10	0.06757	T	0.87	.	1.0895	0.01660	0.1798:0.4327:0.1751:0.2124	.	78;78	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	N	78	ENSP00000272367:D78N;ENSP00000390581:D78N	ENSP00000272367:D78N	D	-	1	0	CLEC4F	70900031	0.000000	0.05858	0.000000	0.03702	0.501000	0.33797	-0.508000	0.06344	-0.103000	0.12175	0.305000	0.20034	GAC	CLEC4F-002	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000330185.2		-	ENST00000426626.1	Missense_Mutation	SNP	2 : 71046523 - 71046523 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	81
DPF2	5977	broad.mit.edu	37	11	65113742	65113742	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65113742C>T	ENST00000415073.2	+	5	497				DPF2_ENST00000528416.1_Missense_Mutation_p.T310I|DPF2_ENST00000252268.4_Missense_Mutation_p.T324I			Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	NA					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						CTCCAATTTACCCCCGTGATG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	108	120			NA	NA	11		NA											NA				65113742		2201	4297	6498	SO:0001627	intron_variant			U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884	5977	5977		Zinc fingers, PHD-type	9964	protein-coding gene	gene with protein product		601671	requiem, apoptosis response zinc finger gene	REQ	NA	11845289	Standard	NM_006268	NM_006268	NA	Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000415073.2:c.466-2579C>T	11.37:g.65113742C>T		NA	A8K7C9	37		.	.	.	.	.	.	.	.	.	.	C	29.9	5.048325	0.93740	.	.	ENSG00000133884	ENST00000528416;ENST00000252268	D;D	0.90955	-2.75;-2.76	5.62	5.62	0.85841	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.38778	N	0.001563	D	0.96367	0.8815	M	0.90977	3.165	0.58432	D	0.999999	D	0.71674	0.998	D	0.83275	0.996	D	0.96952	0.9695	10	0.87932	D	0	-22.942	17.1512	0.86778	0.0:1.0:0.0:0.0	.	310	Q92785	REQU_HUMAN	I	310;324	ENSP00000436901:T310I;ENSP00000252268:T324I	ENSP00000252268:T324I	T	+	2	0	DPF2	64870318	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.701000	0.84566	2.667000	0.90743	0.561000	0.74099	ACC	DPF2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000387294.2		+	ENST00000415073.2	Intron	SNP	11 : 65113742 - 65113742 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	236	50
ZFHX3	463	broad.mit.edu	37	16	72822080	72822080	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72822080C>T	ENST00000268489.5	-	10	10767	c.10095G>A	c.(10093-10095)caG>caA	p.Q3365Q	ZFHX3_ENST00000397992.5_Silent_p.Q2451Q	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3365					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTGGTATTGCTGGTACTGCT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	32	32			NA	NA	16		NA											NA				72822080		2196	4297	6493	SO:0001819	synonymous_variant			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836	463	463		Zinc fingers, C2H2-type, Homeoboxes / ZF class	777	protein-coding gene	gene with protein product		104155	AT-binding transcription factor 1	ATBF1	NA	1719379, 7592926	Standard	NM_006885	NM_006885	NA	Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10095G>A	16.37:g.72822080C>T		NA	D3DWS8|O15101|Q13719	37	CCDS10908.1																																																																																			ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269008.1		-	ENST00000268489.5	Silent	SNP	16 : 72822080 - 72822080 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	64
ZBTB18	10472	broad.mit.edu	37	1	244218555	244218555	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:244218555C>T	ENST00000358704.4	+	2	1628	c.1479C>T	c.(1477-1479)caC>caT	p.H493H		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1			zinc finger and BTB domain containing 18	NA											NA						TGTACAGACACATTCGCAAGT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	79	79			NA	NA	1		NA											NA				244218555		2203	4300	6503	SO:0001819	synonymous_variant			U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456	10472	10472		-, BTB/POZ domain containing, Zinc fingers, C2H2-type	13030	protein-coding gene	gene with protein product		608433	zinc finger protein 238	ZNF238	NA	9568537, 9013868	Standard	NM_205768	NM_205768	NA	Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.1479C>T	1.37:g.244218555C>T		NA		37	CCDS1622.1	.	.	.	.	.	.	.	.	.	.	C	1.440	-0.567841	0.03910	.	.	ENSG00000179456	ENST00000366538	.	.	.	5.78	3.59	0.41128	.	0.000000	0.85682	D	0.000000	T	0.69726	0.3143	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71659	-0.4526	6	0.49607	T	0.09	.	12.1166	0.53868	0.0:0.7939:0.0:0.2061	.	.	.	.	Y	482	.	ENSP00000355496:H482Y	H	+	1	0	ZNF238	242285178	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.075000	0.57584	1.468000	0.48064	-0.140000	0.14226	CAT	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096513.2		+	ENST00000358704.4	Silent	SNP	1 : 244218555 - 244218555 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	617	44
ADAM30	11085	broad.mit.edu	37	1	120438762	120438762	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120438762C>T	ENST00000369400.1	-	1	356	c.198G>A	c.(196-198)ctG>ctA	p.L66L		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	66					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CTTTTAACTGCAGTAGGTAGG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	79	81			NA	NA	1		NA											NA				120438762		2203	4300	6503	SO:0001819	synonymous_variant			AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249	11085	11085		ADAM metallopeptidase domain containing	208	protein-coding gene	gene with protein product		604779	a disintegrin and metalloproteinase domain 30		NA		Standard	NM_021794	NM_021794	NA	Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.198G>A	1.37:g.120438762C>T		NA	A8K8W8|Q5T3X6|Q9UKF1	37	CCDS907.1																																																																																			ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033678.1		-	ENST00000369400.1	Silent	SNP	1 : 120438762 - 120438762 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	92
IRGQ	126298	broad.mit.edu	37	19	44097296	44097296	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44097296C>T	ENST00000602269.1	-	2	939	c.754G>A	c.(754-756)Gct>Act	p.A252T	IRGQ_ENST00000422989.1_Missense_Mutation_p.A252T			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	252							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GCAGGCGCAGCGCCTGGGTCG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	33	31			NA	NA	19		NA											NA				44097296		2201	4298	6499	SO:0001583	missense			AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378	126298	126298			24868	protein-coding gene	gene with protein product			immunity-related GTPase family, Q1	IRGQ1	NA	16277747	Standard	NM_001007561	NM_001007561	NA	Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.754G>A	19.37:g.44097296C>T	ENSP00000472250:p.Ala252Thr	NA	B2RNP3	37	CCDS33040.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849297	0.51270	.	.	ENSG00000167378	ENST00000422989	T	0.66460	-0.21	4.5	4.5	0.54988	.	0.000000	0.64402	D	0.000001	T	0.76842	0.4044	M	0.64997	1.995	0.09310	N	0.999997	D	0.89917	1.0	D	0.72338	0.977	T	0.67360	-0.5690	10	0.66056	D	0.02	-20.4241	10.9344	0.47237	0.0:0.8108:0.1892:0.0	.	252	Q8WZA9	IRGQ_HUMAN	T	252	ENSP00000387535:A252T	ENSP00000387535:A252T	A	-	1	0	IRGQ	48789136	0.626000	0.27120	0.182000	0.23118	0.348000	0.29142	3.325000	0.52030	2.782000	0.95742	0.655000	0.94253	GCT	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463205.1		-	ENST00000602269.1	Missense_Mutation	SNP	19 : 44097296 - 44097296 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	60
RP11-257K9.8	0	broad.mit.edu	37	6	73951827	73951827	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:73951827C>T	ENST00000423730.3	-	3	681	c.246G>A	c.(244-246)ctG>ctA	p.L82L	KHDC1_ENST00000370384.3_Silent_p.L155L|KHDC1_ENST00000257765.5_Silent_p.L82L						NA											NA						AAAACATGTGCAGCAGCCACT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	67	66			NA	NA	6		NA											NA				73951827		2052	4205	6257	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000423730.3:c.246G>A	6.37:g.73951827C>T		NA		37																																																																																				RP11-257K9.8-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000399185.2		-	ENST00000423730.3	Silent	SNP	6 : 73951827 - 73951827 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	192	37
SRRM4	84530	broad.mit.edu	37	12	119559878	119559878	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119559878C>T	ENST00000267260.4	+	6	856	c.468C>T	c.(466-468)tcC>tcT	p.S156S		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	156	Lys-rich.|Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						TGTTTAGCTCCTCTAGCCCAA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	109	112			NA	NA	12		NA											NA				119559878		1854	4095	5949	SO:0001819	synonymous_variant			AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767	84530	84530			29389	protein-coding gene	gene with protein product	neural-specific SR-related protein of 100 kDa	613103	KIAA1853	KIAA1853	NA	19737518	Standard	NM_194286	NM_194286	NA	Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.468C>T	12.37:g.119559878C>T		NA	A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	37	CCDS44994.1																																																																																			SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401640.2		+	ENST00000267260.4	Silent	SNP	12 : 119559878 - 119559878 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	277	45
FAM83G	644815	broad.mit.edu	37	17	18881246	18881246	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18881246C>A	ENST00000388995.6	-	5	1956	c.1733G>T	c.(1732-1734)gGg>gTg	p.G578V	FAM83G_ENST00000585154.2_Missense_Mutation_p.G578V|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.G578V|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	578										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TTCTTCCACCCCATCCAGCCC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	54	52			NA	NA	17		NA											NA				18881246		1990	4144	6134	SO:0001583	missense			AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522	644815	644815			32554	protein-coding gene	gene with protein product	protein associated with SMAD1	615886			NA	24554596	Standard		NM_001039999	NA	Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.1733G>T	17.37:g.18881246C>A	ENSP00000373647:p.Gly578Val	NA	Q3KQZ4|Q6ZW60	37	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	C	7.664	0.685496	0.14973	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.11604	2.76;2.76	5.91	0.462	0.16695	.	0.705821	0.14695	N	0.303887	T	0.15392	0.0371	L	0.60455	1.87	0.09310	N	0.999999	D	0.54047	0.964	P	0.49752	0.621	T	0.10177	-1.0641	10	0.46703	T	0.11	-4.8825	8.4901	0.33095	0.0:0.4611:0.0:0.5389	.	578	A6ND36	FA83G_HUMAN	V	578	ENSP00000373647:G578V;ENSP00000343279:G578V	ENSP00000343279:G578V	G	-	2	0	FAM83G	18821971	0.000000	0.05858	0.002000	0.10522	0.316000	0.28119	0.073000	0.14640	0.225000	0.20959	0.655000	0.94253	GGG	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253108.4		-	ENST00000388995.6	Missense_Mutation	SNP	17 : 18881246 - 18881246 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	702	120
GPR133	283383	broad.mit.edu	37	12	131498749	131498749	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:131498749C>T	ENST00000376682.4	+	5	650	c.395C>T	c.(394-396)gCg>gTg	p.A132V	GPR133_ENST00000535015.1_Missense_Mutation_p.A478V|GPR133_ENST00000261654.5_Missense_Mutation_p.A446V			Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	446					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCAAGGATCGCGGAGGCCATG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	84	88			NA	NA	12		NA											NA				131498749		2203	4300	6503	SO:0001583	missense			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452	283383	283383		-, GPCR / Class B : Orphans	19893	protein-coding gene	gene with protein product		613639			NA		Standard	NM_198827	NM_198827	NA	Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000376682.4:c.395C>T	12.37:g.131498749C>T	ENSP00000365872:p.Ala132Val	NA	Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	37		.	.	.	.	.	.	.	.	.	.	c	12.58	1.980784	0.34942	.	.	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000545900;ENST00000376682	T;T;T	0.43688	0.95;0.94;0.95	4.43	3.52	0.40303	.	0.642937	0.15993	N	0.234703	T	0.32526	0.0832	L	0.53249	1.67	0.09310	N	0.999992	B;B	0.33120	0.342;0.398	B;B	0.19391	0.025;0.025	T	0.20538	-1.0272	10	0.44086	T	0.13	.	8.8773	0.35354	0.0:0.8878:0.0:0.1122	.	478;446	B7ZLF7;Q6QNK2	.;GP133_HUMAN	V	446;478;142;132	ENSP00000261654:A446V;ENSP00000444425:A478V;ENSP00000365872:A132V	ENSP00000261654:A446V	A	+	2	0	GPR133	130064702	0.002000	0.14202	0.008000	0.14137	0.008000	0.06430	1.699000	0.37804	2.183000	0.69458	0.645000	0.84053	GCG	GPR133-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000399364.1		+	ENST00000376682.4	Missense_Mutation	SNP	12 : 131498749 - 131498749 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	417	63
PPP1R16B	26051	broad.mit.edu	37	20	37524228	37524228	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:37524228G>T	ENST00000299824.1	+	4	531	c.342G>T	c.(340-342)gaG>gaT	p.E114D	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.E114D|PPP1R16B_ENST00000468265.1_3'UTR	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	114					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				ACAACTTTGAGGAAATTGTGA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	99	106			NA	NA	20		NA											NA				37524228		2203	4300	6503	SO:0001583	missense			AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445	26051	26051		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Ankyrin repeat domain containing	15850	protein-coding gene	gene with protein product	TGF-beta-inhibited membrane-associated protein, ankyrin repeat domain protein 4	613275	protein phosphatase 1, regulatory (inhibitor) subunit 16B		NA	10048485, 12055102	Standard	NM_015568	NM_001172735	NA	Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.342G>T	20.37:g.37524228G>T	ENSP00000299824:p.Glu114Asp	NA	A2RRR6|O94912|Q9NQG4	37	CCDS13309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	17.02|17.02	3.281561|3.281561	0.59758|0.59758	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000299824;ENST00000373331|ENST00000438192	T;T|.	0.64438|.	-0.1;-0.1|.	3.85|3.85	1.84|1.84	0.25277|0.25277	Ankyrin repeat-containing domain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.35740|0.35740	0.0942|0.0942	N|N	0.13371|0.13371	0.34|0.34	0.45979|0.45979	D|D	0.998798|0.998798	P;P|.	0.37548|.	0.599;0.599|.	P;B|.	0.48334|.	0.574;0.444|.	T|T	0.04693|0.04693	-1.0933|-1.0933	10|5	0.14656|.	T|.	0.56|.	.|.	8.8866|8.8866	0.35406|0.35406	0.2651:0.0:0.7349:0.0|0.2651:0.0:0.7349:0.0	.|.	114;114|.	E9PFS8;Q96T49|.	.;PP16B_HUMAN|.	D|M	114|57	ENSP00000299824:E114D;ENSP00000362428:E114D|.	ENSP00000299824:E114D|.	E|R	+|+	3|2	2|0	PPP1R16B|PPP1R16B	36957642|36957642	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.993000|0.993000	0.82548|0.82548	1.265000|1.265000	0.33027|0.33027	0.400000|0.400000	0.25396|0.25396	-0.161000|-0.161000	0.13427|0.13427	GAG|AGG	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079220.2		+	ENST00000299824.1	Missense_Mutation	SNP	20 : 37524228 - 37524228 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	238	22
CCDC63	160762	broad.mit.edu	37	12	111317744	111317744	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111317744A>C	ENST00000545036.1	+	5	661	c.404A>C	c.(403-405)aAt>aCt	p.N135T	CCDC63_ENST00000552694.1_Missense_Mutation_p.N96T|CCDC63_ENST00000308208.5_Missense_Mutation_p.N175T|CCDC63_ENST00000550317.1_Intron			Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	175										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CTGACCACTAATGCCAAGCTC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	139	142			NA	NA	12		NA											NA				111317744		2203	4300	6503	SO:0001583	missense			AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093	160762	160762			26669	protein-coding gene	gene with protein product	outer row dynein assembly 5 homolog (Chlamydomonas)				NA		Standard	NM_152591	NM_001286243	NA	Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000545036.1:c.404A>C	12.37:g.111317744A>C	ENSP00000445881:p.Asn135Thr	NA	Q0P603|Q6P2E1	37		.	.	.	.	.	.	.	.	.	.	A	17.94	3.511850	0.64522	.	.	ENSG00000173093	ENST00000545036;ENST00000308208;ENST00000552694	T;T;T	0.74632	-0.82;-0.86;-0.8	5.04	5.04	0.67666	.	0.247417	0.45126	D	0.000382	D	0.84442	0.5473	M	0.77820	2.39	0.36117	D	0.845229	D	0.76494	0.999	D	0.67382	0.951	D	0.89232	0.3578	10	0.72032	D	0.01	.	12.1587	0.54091	1.0:0.0:0.0:0.0	.	175	Q8NA47	CCD63_HUMAN	T	135;175;96	ENSP00000445881:N135T;ENSP00000312399:N175T;ENSP00000450217:N96T	ENSP00000312399:N175T	N	+	2	0	CCDC63	109802127	0.997000	0.39634	0.161000	0.22692	0.870000	0.49936	5.743000	0.68655	1.911000	0.55334	0.379000	0.24179	AAT	CCDC63-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000404672.1		+	ENST00000545036.1	Missense_Mutation	SNP	12 : 111317744 - 111317744 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	929	259
USP28	57646	broad.mit.edu	37	11	113688414	113688414	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113688414G>A	ENST00000003302.4	-	13	1497	c.1429C>T	c.(1429-1431)Cac>Tac	p.H477Y	USP28_ENST00000545540.1_Missense_Mutation_p.H352Y|USP28_ENST00000260188.5_Missense_Mutation_p.H477Y|USP28_ENST00000537706.1_Missense_Mutation_p.H477Y|USP28_ENST00000544967.1_Missense_Mutation_p.H185Y	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	477					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ACCGAGCAGTGCACTGAAGAA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)							NA				0													163	142	149			NA	NA	11		NA											NA				113688414		2201	4296	6497	SO:0001583	missense			AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028	57646	57646		Ubiquitin-specific peptidases	12625	protein-coding gene	gene with protein product		610748	ubiquitin specific protease 28		NA	12838346, 11597335	Standard		XM_005271630	NA	Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1429C>T	11.37:g.113688414G>A	ENSP00000003302:p.His477Tyr	NA	B0YJC0|B0YJC1|Q9P213	37	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	G	3.669	-0.068011	0.07228	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000537706	T;T;T;T;T	0.44083	1.52;1.53;0.93;1.53;1.91	5.48	5.48	0.80851	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.638378	0.16792	N	0.199355	T	0.30198	0.0757	N	0.14661	0.345	0.29783	N	0.833808	B;B;B;B	0.22003	0.032;0.043;0.025;0.063	B;B;B;B	0.24974	0.057;0.032;0.023;0.034	T	0.17806	-1.0357	10	0.44086	T	0.13	-10.7052	14.7347	0.69406	0.0:0.0:1.0:0.0	.	352;477;477;185	B4E3L3;Q6NZX9;Q96RU2;G3V1N5	.;.;UBP28_HUMAN;.	Y	477;477;185;352;477	ENSP00000003302:H477Y;ENSP00000260188:H477Y;ENSP00000442431:H185Y;ENSP00000444991:H352Y;ENSP00000445743:H477Y	ENSP00000003302:H477Y	H	-	1	0	USP28	113193624	0.990000	0.36364	0.718000	0.30602	0.865000	0.49528	2.355000	0.44107	2.861000	0.98227	0.650000	0.86243	CAC	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398789.1		-	ENST00000003302.4	Missense_Mutation	SNP	11 : 113688414 - 113688414 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	688	137
MYLK2	85366	broad.mit.edu	37	20	30418629	30418629	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30418629A>C	ENST00000375994.2	+	8	1505	c.1232A>C	c.(1231-1233)aAc>aCc	p.N411T	MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Missense_Mutation_p.N411T			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	411	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CAGCCAGAGAACATCCTGTGT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	161	161			NA	NA	20		NA											NA				30418629		2203	4300	6503	SO:0001583	missense			AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	85366	85366	2.7.11.18		16243	protein-coding gene	gene with protein product	skeletal muscle myosin light chain kinase	606566	myosin light chain kinase 2, skeletal muscle		NA		Standard	NM_033118	NM_033118	NA	Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.1232A>C	20.37:g.30418629A>C	ENSP00000365162:p.Asn411Thr	NA	Q569L1|Q96I84	37	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.934217	0.73442	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	D;D	0.91996	-2.95;-2.95	3.76	3.76	0.43208	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.96197	0.8760	M	0.89785	3.06	0.53688	D	0.999973	D	0.65815	0.995	D	0.72075	0.976	D	0.96636	0.9470	9	0.87932	D	0	.	12.0947	0.53748	1.0:0.0:0.0:0.0	.	411	Q9H1R3	MYLK2_HUMAN	T	411	ENSP00000365162:N411T;ENSP00000365152:N411T	ENSP00000365152:N411T	N	+	2	0	MYLK2	29882290	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.182000	0.77689	1.678000	0.50952	0.459000	0.35465	AAC	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078583.2		+	ENST00000375994.2	Missense_Mutation	SNP	20 : 30418629 - 30418629 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1622	248
ADAT1	23536	broad.mit.edu	37	16	75642133	75642133	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75642133G>A	ENST00000307921.3	-	9	1423	c.1278C>T	c.(1276-1278)agC>agT	p.S426S	RP11-77K12.8_ENST00000564489.1_RNA	NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	426	A to I editase.				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						TTGCCTGAAGGCTTCCAATTG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													258	230	240			NA	NA	16		NA											NA				75642133		2198	4300	6498	SO:0001819	synonymous_variant			AF125188	CCDS10922.1	16q23	2008-02-05			ENSG00000065457	ENSG00000065457	23536	23536			228	protein-coding gene	gene with protein product		604230			NA	10430867	Standard	NM_012091	NM_012091	NA	Approved		uc002feo.2	Q9BUB4	OTTHUMG00000137611	ENST00000307921.3:c.1278C>T	16.37:g.75642133G>A		NA	Q9NVB7|Q9UNG3	37	CCDS10922.1																																																																																			ADAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269027.1		-	ENST00000307921.3	Silent	SNP	16 : 75642133 - 75642133 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1473	266
UBR4	23352	broad.mit.edu	37	1	19447793	19447793	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19447793C>A	ENST00000375254.3	-	68	10058	c.10031G>T	c.(10030-10032)aGt>aTt	p.S3344I	UBR4_ENST00000375226.2_Missense_Mutation_p.S3320I|UBR4_ENST00000375267.2_Missense_Mutation_p.S3344I|UBR4_ENST00000375217.2_Missense_Mutation_p.S3337I	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3344	Ser-rich.				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGAAGAAGCACTGGAGGATCC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	57	55			NA	NA	1		NA											NA				19447793		2203	4300	6503	SO:0001583	missense			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481	23352	23352		Ubiquitin protein ligase E3 component n-recognins	30313	protein-coding gene	gene with protein product		609890	zinc finger, UBR1 type 1	ZUBR1	NA	14702039, 10718198, 16055722	Standard	NM_020765	XM_005245802	NA	Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.10031G>T	1.37:g.19447793C>A	ENSP00000364403:p.Ser3344Ile	NA	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124794	0.56613	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.25085	1.82;1.82;1.83;1.83	5.95	5.04	0.67666	.	1.898250	0.01993	N	0.045680	T	0.20251	0.0487	N	0.12182	0.205	0.29740	N	0.837165	B	0.20671	0.047	B	0.21360	0.034	T	0.16482	-1.0401	10	0.51188	T	0.08	.	9.5203	0.39131	0.0:0.781:0.1444:0.0746	.	3344	Q5T4S7	UBR4_HUMAN	I	3344;3344;3337;3320;952;2030	ENSP00000364403:S3344I;ENSP00000364416:S3344I;ENSP00000364365:S3337I;ENSP00000364374:S3320I	ENSP00000364365:S3337I	S	-	2	0	UBR4	19320380	0.904000	0.30761	0.063000	0.19743	0.938000	0.57974	3.191000	0.50981	1.511000	0.48818	0.655000	0.94253	AGT	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007085.1		-	ENST00000375254.3	Missense_Mutation	SNP	1 : 19447793 - 19447793 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	33
RDH16	8608	broad.mit.edu	37	12	57351092	57351092	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57351092C>T	ENST00000398138.3	-	1	1011	c.155G>A	c.(154-156)cGa>cAa	p.R52Q	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	52					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						CCGCAAGCCTCGTGCATCCAG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(179;741 2921 43105 45298)							NA				0													61	66	65			NA	NA	12		NA											NA				57351092		2203	4300	6503	SO:0001583	missense				CCDS41797.1	12q13.3	2011-09-14	2006-05-09			ENSG00000139547	8608	8608		Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2	29674	protein-coding gene	gene with protein product	microsomal NAD+ dependent retinol dehydrogenase 4, short chain dehydrogenase/reductase family 9C, member 8		retinol dehydrogenase 16 (all-trans and 13-cis)		NA	9677409, 10329026, 19027726	Standard	NM_003708	NM_003708	NA	Approved	RODH-4, SDR9C8	uc001smi.4	O75452		ENST00000398138.3:c.155G>A	12.37:g.57351092C>T	ENSP00000381206:p.Arg52Gln	NA	Q9UNV2	37	CCDS41797.1	.	.	.	.	.	.	.	.	.	.	C	6.651	0.488577	0.12641	.	.	ENSG00000139547	ENST00000398138	D	0.87887	-2.31	4.72	2.83	0.33086	NAD(P)-binding domain (1);	0.000000	0.53938	D	0.000055	T	0.68550	0.3013	N	0.05177	-0.1	0.09310	N	0.999997	B	0.31435	0.323	B	0.28139	0.086	T	0.59526	-0.7438	10	0.39692	T	0.17	.	5.2471	0.15502	0.1676:0.6543:0.0:0.1781	.	52	O75452	RDH16_HUMAN	Q	52	ENSP00000381206:R52Q	ENSP00000381206:R52Q	R	-	2	0	RDH16	55637359	0.000000	0.05858	0.577000	0.28562	0.042000	0.13812	0.073000	0.14640	0.553000	0.29044	0.655000	0.94253	CGA	RDH16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410898.1		-	ENST00000398138.3	Missense_Mutation	SNP	12 : 57351092 - 57351092 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	502	102
OR51T1	401665	broad.mit.edu	37	11	4903513	4903513	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4903513C>T	ENST00000322049.1	+	1	384	c.384C>T	c.(382-384)atC>atT	p.I128I	MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000380378.1_Silent_p.I155I|MMP26_ENST00000380390.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCGTGGCTATCTGTAACCCAC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	128	136			NA	NA	11		NA											NA				4903513		2201	4298	6499	SO:0001819	synonymous_variant			BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900	401665	401665		GPCR / Class A : Olfactory receptors	15205	protein-coding gene	gene with protein product					NA		Standard	NM_001004759	NM_001004759	NA	Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.384C>T	11.37:g.4903513C>T		NA	Q6IFH9	37																																																																																				OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000142180.1		+	ENST00000322049.1	Silent	SNP	11 : 4903513 - 4903513 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	562	94
PAPLN	89932	broad.mit.edu	37	14	73730979	73730979	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73730979C>T	ENST00000340738.5	+	20	2943	c.2841C>T	c.(2839-2841)ggC>ggT	p.G947G	PAPLN_ENST00000427855.1_Silent_p.G974G|PAPLN_ENST00000555445.1_Silent_p.G958G|PAPLN_ENST00000554301.1_Silent_p.G974G|PAPLN_ENST00000554314.1_3'UTR|PAPLN_ENST00000381166.3_Silent_p.G974G	NM_173462.3	NP_775733.3	O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	974	Ig-like C2-type 1.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		AGGACGCGGGCACCTACAGCT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	71	71			NA	NA	14		NA											NA				73730979		2203	4300	6503	SO:0001819	synonymous_variant			BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767	89932	89932		Immunoglobulin superfamily / I-set domain containing	19262	protein-coding gene	gene with protein product					NA	11076767, 19734141	Standard	NM_173462	NM_173462	NA	Approved	MGC50452	uc001xnw.4	O95428		ENST00000340738.5:c.2841C>T	14.37:g.73730979C>T		NA	B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	37	CCDS32114.1																																																																																			PAPLN-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413179.1		+	ENST00000340738.5	Silent	SNP	14 : 73730979 - 73730979 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	530	71
PLEKHG2	64857	broad.mit.edu	37	19	39907007	39907007	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39907007G>A	ENST00000409794.3	+	5	1349	c.499G>A	c.(499-501)Gag>Aag	p.E167K	PLEKHG2_ENST00000378550.1_Missense_Mutation_p.E167K|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.E108K|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.E167K|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.E167K	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	167	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGAGGACTTGGAGAACAGCAG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	86	83			NA	NA	19		NA											NA				39907007		2203	4300	6503	SO:0001583	missense			AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924	64857	64857		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	29515	protein-coding gene	gene with protein product		611893			NA	11839748, 18045877	Standard	NM_022835	NM_022835	NA	Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.499G>A	19.37:g.39907007G>A	ENSP00000386733:p.Glu167Lys	NA	B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	37	CCDS33022.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.4|29.4	5.006214|5.006214	0.93287|0.93287	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000378550;ENST00000458508;ENST00000409797;ENST00000451354|ENST00000205135	T;T;T;T;T;T|.	0.66280|.	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2|.	4.68|4.68	4.68|4.68	0.58851|0.58851	Dbl homology (DH) domain (5);|.	0.000000|.	0.56097|.	D|.	0.000025|.	T|.	0.73999|.	0.3659|.	M|M	0.70842|0.70842	2.15|2.15	0.50039|0.50039	D|D	0.999843|0.999843	D;D;P|.	0.71674|.	0.998;0.98;0.934|.	D;P;P|.	0.74023|.	0.982;0.896;0.79|.	T|.	0.74372|.	-0.3687|.	10|.	0.87932|.	D|.	0|.	.|.	16.5224|16.5224	0.84320|0.84320	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	167;108;167|.	Q9H7P9;E7ESZ3;Q9H7P9-2|.	PKHG2_HUMAN;.;.|.	K|X	167;167;167;108;167;168|63	ENSP00000386733:E167K;ENSP00000392906:E167K;ENSP00000367812:E167K;ENSP00000408857:E108K;ENSP00000386492:E167K;ENSP00000412818:E168K|.	ENSP00000367812:E167K|.	E|W	+|+	1|3	0|0	PLEKHG2|PLEKHG2	44598847|44598847	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.740000|0.740000	0.42216|0.42216	7.981000|7.981000	0.88123|0.88123	2.452000|2.452000	0.82932|0.82932	0.491000|0.491000	0.48974|0.48974	GAG|TGG	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326802.1		+	ENST00000409794.3	Missense_Mutation	SNP	19 : 39907007 - 39907007 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1029	66
DHX9	1660	broad.mit.edu	37	1	182850546	182850546	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182850546C>T	ENST00000367549.3	+	23	2882	c.2772C>T	c.(2770-2772)gcC>gcT	p.A924A	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	924					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TATTCCAAGCCTGGGATGATG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(69;210 1162 3697 13559 39565)							NA				0													143	133	137			NA	NA	1		NA											NA				182850546		1859	4103	5962	SO:0001819	synonymous_variant			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829	1660	1660		DEAH-boxes	2750	protein-coding gene	gene with protein product	NDH II, RNA helicase A	603115	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin), DEAH (Asp-Glu-Ala-His) box polypeptide 9	LKP, DDX9	NA	8344961, 9111062	Standard	NM_030588	NM_001357	NA	Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.2772C>T	1.37:g.182850546C>T		NA	B2RNV4|Q5VY62|Q6PD69|Q99556	37	CCDS41444.1																																																																																			DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085522.2		+	ENST00000367549.3	Silent	SNP	1 : 182850546 - 182850546 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1029	76
C4orf40	0	broad.mit.edu	37	4	71024410	71024410	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71024410G>T	ENST00000344526.5	+	3	630	c.441G>T	c.(439-441)gaG>gaT	p.E147D	C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Missense_Mutation_p.E147D	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN		147	Ala-rich.					extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TAGCAGCTGAGCCTGCTGCAG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	34	33			NA	NA	4		NA											NA				71024410		2199	4293	6492	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000344526.5:c.441G>T	4.37:g.71024410G>T	ENSP00000343172:p.Glu147Asp	NA	A8MXP0|Q6MZR6	37	CCDS3535.1	.	.	.	.	.	.	.	.	.	.	G	8.224	0.803175	0.16397	.	.	ENSG00000187533	ENST00000502294;ENST00000344526	T;T	0.32272	1.46;1.46	4.64	-9.27	0.00659	.	.	.	.	.	T	0.11623	0.0283	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.18398	-1.0338	9	0.22109	T	0.4	0.2678	5.6229	0.17467	0.5778:0.0866:0.2482:0.0874	.	147	Q6MZM9	CD040_HUMAN	D	147	ENSP00000426249:E147D;ENSP00000343172:E147D	ENSP00000343172:E147D	E	+	3	2	C4orf40	71058999	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.151000	0.10175	-2.808000	0.00349	-2.602000	0.00161	GAG	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251558.1		+	ENST00000344526.5	Missense_Mutation	SNP	4 : 71024410 - 71024410 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	448	90
SLITRK5	26050	broad.mit.edu	37	13	88329784	88329784	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:88329784A>G	ENST00000325089.6	+	2	2360	c.2141A>G	c.(2140-2142)tAc>tGc	p.Y714C	SLITRK5_ENST00000400028.3_Missense_Mutation_p.Y473C	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	714						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					AACATGCAGTACAGCGTGTAC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	74	71			NA	NA	13		NA											NA				88329784		2203	4300	6503	SO:0001583	missense			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300	26050	26050			20295	protein-coding gene	gene with protein product		609680	leucine rich repeat containing 11	LRRC11	NA	10048485, 14557068	Standard		NM_015567	NA	Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2141A>G	13.37:g.88329784A>G	ENSP00000366283:p.Tyr714Cys	NA	B3KNB8|Q5VT81	37	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.524587	0.44969	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.59224	0.28;0.62	5.13	3.93	0.45458	.	0.000000	0.64402	D	0.000001	T	0.61714	0.2369	L	0.33189	0.99	0.50467	D	0.99987	D;B	0.89917	1.0;0.356	D;B	0.74674	0.984;0.043	T	0.57370	-0.7823	9	.	.	.	-9.4438	9.5331	0.39207	0.8422:0.0:0.0:0.1578	.	473;714	B4DSH5;O94991	.;SLIK5_HUMAN	C	714;473	ENSP00000366283:Y714C;ENSP00000442244:Y473C	.	Y	+	2	0	SLITRK5	87127785	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.792000	0.91856	0.757000	0.33036	0.454000	0.30748	TAC	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045416.3		+	ENST00000325089.6	Missense_Mutation	SNP	13 : 88329784 - 88329784 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	425	16
ZNF234	10780	broad.mit.edu	37	19	44661008	44661008	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44661008G>T	ENST00000426739.2	+	6	1097	c.839G>T	c.(838-840)aGa>aTa	p.R280I	ZNF234_ENST00000592437.1_Missense_Mutation_p.R280I	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GAACATCAGAGAATTCATACT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	135	132			NA	NA	19		NA											NA				44661008		2197	4299	6496	SO:0001583	missense			X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002	10780	10780		Zinc fingers, C2H2-type, -	13027	protein-coding gene	gene with protein product		604750		ZNF269	NA	7865130	Standard		NM_006630	NA	Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.839G>T	19.37:g.44661008G>T	ENSP00000400878:p.Arg280Ile	NA	A8K1C8|Q96IR4|Q9NS45|Q9NYT7	37	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867374	0.51588	.	.	ENSG00000167380	ENST00000426739	T	0.24908	1.83	3.98	-1.14	0.09741	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29458	0.0734	L	0.48986	1.54	0.25986	N	0.982302	D	0.57899	0.981	P	0.54140	0.743	T	0.18241	-1.0343	9	0.42905	T	0.14	.	5.4562	0.16592	0.3579:0.1405:0.5016:0.0	.	280	Q14588	ZN234_HUMAN	I	280	ENSP00000400878:R280I	ENSP00000400878:R280I	R	+	2	0	ZNF226	49352848	0.000000	0.05858	0.260000	0.24451	0.991000	0.79684	-1.281000	0.02802	0.114000	0.18032	0.586000	0.80456	AGA	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460586.2		+	ENST00000426739.2	Missense_Mutation	SNP	19 : 44661008 - 44661008 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	823	164
BCAT2	587	broad.mit.edu	37	19	49303312	49303312	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49303312C>T	ENST00000402551.1	-	6	957	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	BCAT2_ENST00000597011.1_Missense_Mutation_p.E113K|BCAT2_ENST00000599246.1_Missense_Mutation_p.E61K|BCAT2_ENST00000545387.2_Missense_Mutation_p.E61K|BCAT2_ENST00000598162.1_Missense_Mutation_p.E153K|BCAT2_ENST00000316273.6_Missense_Mutation_p.E153K	NM_001284325.1	NP_001271254.1	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	153						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	p.E153K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	TTGTCCACTTCGATGAGCCGG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	skin(1)											41	43	43			NA	NA	19		NA											NA				49303312		2203	4300	6503	SO:0001583	missense			U68418	CCDS12735.1, CCDS54290.1, CCDS74416.1	19q13.33	2013-09-20	2010-05-07		ENSG00000105552	ENSG00000105552	587	587	2.6.1.42		977	protein-coding gene	gene with protein product		113530	branched chain aminotransferase 2, mitochondrial	BCT2	NA	9165094	Standard		NM_001190	NA	Approved	BCAM	uc002pkr.3	O15382	OTTHUMG00000183327	ENST00000402551.1:c.337G>A	19.37:g.49303312C>T	ENSP00000385161:p.Glu113Lys	NA	B2RB87|O00269|Q96KG1|Q9BTB6|Q9BUU6	37		.	.	.	.	.	.	.	.	.	.	C	5.292	0.239195	0.10023	.	.	ENSG00000105552	ENST00000316273;ENST00000545387;ENST00000402551	T;T;T	0.16324	2.35;2.35;2.35	4.86	1.33	0.21861	.	0.159471	0.53938	D	0.000054	T	0.05686	0.0149	N	0.05306	-0.075	0.53005	D	0.999963	B;B;B;B	0.24963	0.013;0.115;0.002;0.115	B;B;B;B	0.19391	0.01;0.025;0.002;0.015	T	0.38628	-0.9652	10	0.02654	T	1	-7.9185	8.2993	0.32004	0.0:0.6183:0.2964:0.0852	.	113;153;61;153	B3KSI3;Q53EW7;O15382-2;O15382	.;.;.;BCAT2_HUMAN	K	153;61;113	ENSP00000322991:E153K;ENSP00000440973:E61K;ENSP00000385161:E113K	ENSP00000322991:E153K	E	-	1	0	BCAT2	53995124	0.047000	0.20315	0.007000	0.13788	0.559000	0.35586	1.230000	0.32612	0.152000	0.19188	0.561000	0.74099	GAA	BCAT2-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000466201.1		-	ENST00000402551.1	Missense_Mutation	SNP	19 : 49303312 - 49303312 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	304	71
MRPS31	10240	broad.mit.edu	37	13	41340970	41340970	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:41340970T>C	ENST00000323563.6	-	2	388	c.352A>G	c.(352-354)Aca>Gca	p.T118A		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	118						mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		GGGGGCTTTGTTGTTCGTACA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	141	144			NA	NA	13		NA											NA				41340970		2203	4300	6503	SO:0001583	missense			Z68747	CCDS9372.1	13q14.11	2012-09-13			ENSG00000102738	ENSG00000102738	10240	10240		Mitochondrial ribosomal proteins / small subunits	16632	protein-coding gene	gene with protein product		611992			NA	11279123, 8567980	Standard		NM_005830	NA	Approved	IMOGN38	uc001uxm.4	Q92665	OTTHUMG00000016777	ENST00000323563.6:c.352A>G	13.37:g.41340970T>C	ENSP00000315397:p.Thr118Ala	NA	B2RCS3|Q5VYC8|Q8WTV8	37	CCDS9372.1	.	.	.	.	.	.	.	.	.	.	T	11.82	1.754169	0.31046	.	.	ENSG00000102738	ENST00000323563	T	0.28895	1.59	4.54	-1.16	0.09678	.	0.515963	0.19542	N	0.111773	T	0.24851	0.0603	M	0.65320	2	0.18873	N	0.999985	P	0.44578	0.838	P	0.45099	0.469	T	0.09443	-1.0674	10	0.28530	T	0.3	.	0.5079	0.00590	0.174:0.205:0.1801:0.4409	.	118	Q92665	RT31_HUMAN	A	118	ENSP00000315397:T118A	ENSP00000315397:T118A	T	-	1	0	MRPS31	40238970	0.860000	0.29831	0.985000	0.45067	0.306000	0.27790	0.304000	0.19228	0.189000	0.20188	-0.360000	0.07572	ACA	MRPS31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044640.2		-	ENST00000323563.6	Missense_Mutation	SNP	13 : 41340970 - 41340970 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	575	100
SLC2A1	6513	broad.mit.edu	37	1	43395385	43395385	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43395385C>T	ENST00000426263.3	-	6	924	c.746G>A	c.(745-747)cGg>cAg	p.R249Q	SLC2A1_ENST00000415851.2_Intron|SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	249					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CATCATCTGCCGACTCTCTTC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CI056492	SLC2A1	I							142	135	138			NA	NA	1		NA											NA				43395385		2203	4300	6503	SO:0001583	missense			K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394	6513	6513		Solute carriers	11005	protein-coding gene	gene with protein product		138140	human T-cell leukemia virus (I and II) receptor	GLUT1, GLUT, HTLVR	NA	8839927, 14622599, 18451999	Standard	NM_006516	NM_006516	NA	Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.746G>A	1.37:g.43395385C>T	ENSP00000416293:p.Arg249Gln	NA	A8K9S6|B2R620|D3DPX0|O75535|Q147X2	37	CCDS477.1	.	.	.	.	.	.	.	.	.	.	C	8.251	0.808952	0.16537	.	.	ENSG00000117394	ENST00000426263;ENST00000372501;ENST00000397019;ENST00000439722	T;T	0.73258	-0.73;-0.73	5.14	4.22	0.49857	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.054655	0.64402	D	0.000001	T	0.58736	0.2143	L	0.33137	0.985	0.80722	D	1	B	0.20988	0.05	B	0.14023	0.01	T	0.53005	-0.8499	10	0.27785	T	0.31	.	13.5086	0.61497	0.0:0.8422:0.1578:0.0	.	249	P11166	GTR1_HUMAN	Q	249;249;191;154	ENSP00000416293:R249Q;ENSP00000395521:R154Q	ENSP00000361579:R249Q	R	-	2	0	SLC2A1	43167972	1.000000	0.71417	0.991000	0.47740	0.333000	0.28666	2.614000	0.46359	1.152000	0.42452	-0.314000	0.08810	CGG	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000020358.2		-	ENST00000426263.3	Missense_Mutation	SNP	1 : 43395385 - 43395385 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	890	71
PCDH12	51294	broad.mit.edu	37	5	141336470	141336470	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141336470G>T	ENST00000231484.3	-	1	2157	c.947C>A	c.(946-948)cCt>cAt	p.P316H		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	316	Cadherin 3.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGTAGGCAGGGTTCTTTTC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	63	66			NA	NA	5		NA											NA				141336470		2203	4300	6503	SO:0001583	missense			AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555	51294	51294		Cadherins / Protocadherins : Non-clustered	8657	protein-coding gene	gene with protein product		605622			NA	10716726, 10380929	Standard	NM_016580	NM_016580	NA	Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.947C>A	5.37:g.141336470G>T	ENSP00000231484:p.Pro316His	NA	Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	37	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	6.756	0.508335	0.12883	.	.	ENSG00000113555	ENST00000231484	T	0.61392	0.11	5.26	5.26	0.73747	Cadherin (4);Cadherin-like (1);	0.415449	0.27100	N	0.020930	T	0.46619	0.1402	L	0.37697	1.125	0.19945	N	0.99994	B	0.18610	0.029	B	0.18263	0.021	T	0.32877	-0.9890	10	0.39692	T	0.17	.	11.2965	0.49282	0.0:0.0:0.8184:0.1816	.	316	Q9NPG4	PCD12_HUMAN	H	316	ENSP00000231484:P316H	ENSP00000231484:P316H	P	-	2	0	PCDH12	141316654	0.132000	0.22450	0.993000	0.49108	0.774000	0.43823	2.647000	0.46639	2.731000	0.93534	0.655000	0.94253	CCT	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251858.1		-	ENST00000231484.3	Missense_Mutation	SNP	5 : 141336470 - 141336470 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	370	17
FRMD6	122786	broad.mit.edu	37	14	52167809	52167809	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52167809C>T	ENST00000395718.2	+	4	511	c.226C>T	c.(226-228)Ctt>Ttt	p.L76F	FRMD6_ENST00000554167.1_Missense_Mutation_p.L7F|FRMD6_ENST00000344768.5_Missense_Mutation_p.L76F|FRMD6_ENST00000356218.4_Missense_Mutation_p.L76F	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	76	FERM.					cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GTCACAAAAGCTTTACAAATA	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	40	40			NA	NA	14		NA											NA				52167809		2200	4297	6497	SO:0001583	missense			BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926	122786	122786			19839	protein-coding gene	gene with protein product	expanded homolog	614555	chromosome 14 open reading frame 31	C14orf31	NA		Standard	NM_152330	NM_152330	NA	Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000395718.2:c.226C>T	14.37:g.52167809C>T	ENSP00000379068:p.Leu76Phe	NA	D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	37	CCDS9704.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716038	0.89205	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000555936;ENST00000554167	D;D;D;T;D	0.85013	-1.93;-1.93;-1.93;0.06;-1.77	5.77	5.77	0.91146	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.057299	0.64402	D	0.000001	D	0.92456	0.7605	M	0.76170	2.325	0.80722	D	1	D;D;D	0.76494	0.999;0.992;0.998	D;D;D	0.74348	0.983;0.978;0.978	D	0.92506	0.6012	10	0.72032	D	0.01	.	19.9924	0.97371	0.0:1.0:0.0:0.0	.	7;76;76	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	F	76;76;76;7;7	ENSP00000348550:L76F;ENSP00000379068:L76F;ENSP00000343899:L76F;ENSP00000451453:L7F;ENSP00000451977:L7F	ENSP00000343899:L76F	L	+	1	0	FRMD6	51237559	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.951000	0.56684	2.727000	0.93392	0.650000	0.86243	CTT	FRMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276880.1		+	ENST00000395718.2	Missense_Mutation	SNP	14 : 52167809 - 52167809 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	87	18
ARHGDIA	396	broad.mit.edu	37	17	79827105	79827105	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79827105C>T	ENST00000269321.7	-	5	494	c.359G>A	c.(358-360)cGa>cAa	p.R120Q	ARHGDIA_ENST00000580685.1_Missense_Mutation_p.R120Q|ARHGDIA_ENST00000581876.1_Intron|ARHGDIA_ENST00000584461.1_Missense_Mutation_p.R120Q|ARHGDIA_ENST00000541078.2_Missense_Mutation_p.R120Q|ARHGDIA_ENST00000400721.4_Missense_Mutation_p.R120Q	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	120					anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CACTATCTCTCGGTTAACCTG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	67	68			NA	NA	17		NA											NA				79827105		2203	4300	6503	SO:0001583	missense			BC028333	CCDS11788.1, CCDS58609.1	17q25.3	2005-12-20				ENSG00000141522	396	396			678	protein-coding gene	gene with protein product		601925		GDIA1	NA	9186513	Standard	NM_004309	NM_001185077	NA	Approved	RHOGDI	uc002kbq.3	P52565		ENST00000269321.7:c.359G>A	17.37:g.79827105C>T	ENSP00000269321:p.Arg120Gln	NA	B2R5X1|Q6IBM5	37	CCDS11788.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235195	0.39498	.	.	ENSG00000141522	ENST00000269321;ENST00000541078;ENST00000400721	.	.	.	4.45	0.151	0.14888	Immunoglobulin E-set (1);	0.288011	0.33161	N	0.005205	T	0.25938	0.0632	L	0.54323	1.7	0.26686	N	0.971459	B;B;P	0.43938	0.036;0.078;0.822	B;B;B	0.34138	0.064;0.094;0.176	T	0.19224	-1.0312	9	0.59425	D	0.04	-9.8482	8.7674	0.34711	0.0:0.5049:0.0:0.4951	.	120;120;120	A8MXW0;B4DUV9;P52565	.;.;GDIR1_HUMAN	Q	120	.	ENSP00000269321:R120Q	R	-	2	0	ARHGDIA	77420394	0.851000	0.29673	0.081000	0.20488	0.379000	0.30106	1.371000	0.34250	0.159000	0.19401	0.467000	0.42956	CGA	ARHGDIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000441679.2		-	ENST00000269321.7	Missense_Mutation	SNP	17 : 79827105 - 79827105 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	352	70
PDE8A	5151	broad.mit.edu	37	15	85610412	85610412	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85610412G>A	ENST00000310298.4	+	4	663	c.411G>A	c.(409-411)caG>caA	p.Q137Q	PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000557957.1_Silent_p.Q65Q|PDE8A_ENST00000394553.1_Silent_p.Q137Q|PDE8A_ENST00000339708.5_Silent_p.Q137Q			O60658	PDE8A_HUMAN	phosphodiesterase 8A	137					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			ATCCTCGACAGCTGGATGCAG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	92	98			NA	NA	15		NA											NA				85610412		2203	4299	6502	SO:0001819	synonymous_variant			AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	5151	5151	3.1.4.17	Phosphodiesterases	8793	protein-coding gene	gene with protein product		602972			NA	9618252	Standard	NM_002605	NM_001243137	NA	Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.411G>A	15.37:g.85610412G>A		NA	B3KXE6|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	37	CCDS10336.1																																																																																			PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000309018.1		+	ENST00000310298.4	Silent	SNP	15 : 85610412 - 85610412 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	406	70
EGFL6	25975	broad.mit.edu	37	X	13618094	13618094	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:13618094A>G	ENST00000361306.1	+	4	538	c.281A>G	c.(280-282)gAt>gGt	p.D94G	EGFL6_ENST00000380602.3_Splice_Site_p.D94G	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	94	EGF-like 2; calcium-binding (Potential).				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						GTCCCTGCAGATGTGAATGAG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	92	99			NA	NA	X		NA											NA				13618094		2203	4300	6503	SO:0001630	splice_region_variant			AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759	25975	25975			3235	protein-coding gene	gene with protein product		300239	MAM and EGF domain containing	MAEG	NA	10610727	Standard	NM_015507	NM_015507	NA	Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.281-1A>G	X.37:g.13618094A>G		NA	B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	37	CCDS14155.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.949921	0.53186	.	.	ENSG00000198759	ENST00000361306;ENST00000380602	D;D	0.99060	-5.38;-5.38	5.09	5.09	0.68999	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99248	0.9738	M	0.84433	2.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99253	1.0888	9	.	.	.	.	13.7231	0.62740	1.0:0.0:0.0:0.0	.	94;94	Q8IUX8-2;Q8IUX8	.;EGFL6_HUMAN	G	94	ENSP00000355126:D94G;ENSP00000369976:D94G	.	D	+	2	0	EGFL6	13528015	1.000000	0.71417	0.947000	0.38551	0.007000	0.05969	8.945000	0.92985	1.695000	0.51148	0.486000	0.48141	GAT	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055800.1	Missense_Mutation	+	ENST00000361306.1	Splice_Site	SNP	X : 13618094 - 13618094 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	283	71
TPPP	11076	broad.mit.edu	37	5	677962	677962	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:677962G>A	ENST00000360578.5	-	2	335	c.214C>T	c.(214-216)Cac>Tac	p.H72Y		NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	72	Mediates interaction with LIMK1.				microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		TTCTTGCCGTGCATCTCCCTC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	86	101			NA	NA	5		NA											NA				677962		2202	4300	6502	SO:0001583	missense			AB017016	CCDS3856.1	5p15.33	2008-02-05			ENSG00000171368	ENSG00000171368	11076	11076			24164	protein-coding gene	gene with protein product	brain specific protein p25 alpha	608773			NA	10083737, 12093283, 15590652, 17105200	Standard	NM_007030	NM_007030	NA	Approved	p25alpha, TPPP1, p25, TPPP/p25	uc003jbh.4	O94811	OTTHUMG00000131011	ENST00000360578.5:c.214C>T	5.37:g.677962G>A	ENSP00000353785:p.His72Tyr	NA		37	CCDS3856.1	.	.	.	.	.	.	.	.	.	.	g	17.28	3.350887	0.61183	.	.	ENSG00000171368	ENST00000360578	T	0.42900	0.96	5.32	5.32	0.75619	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.54919	0.1888	L	0.51422	1.61	0.47862	D	0.999536	D	0.61697	0.99	P	0.62491	0.903	T	0.54820	-0.8236	10	0.54805	T	0.06	-32.1368	13.5508	0.61730	0.0:0.0:0.844:0.156	.	72	O94811	TPPP_HUMAN	Y	72	ENSP00000353785:H72Y	ENSP00000353785:H72Y	H	-	1	0	TPPP	730962	1.000000	0.71417	0.999000	0.59377	0.302000	0.27658	2.600000	0.46240	2.485000	0.83878	0.561000	0.74099	CAC	TPPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253645.3		-	ENST00000360578.5	Missense_Mutation	SNP	5 : 677962 - 677962 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	378	79
SNCAIP	9627	broad.mit.edu	37	5	121786784	121786784	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121786784C>A	ENST00000261367.7	+	12	3811	c.2383C>A	c.(2383-2385)Cca>Aca	p.P795T	SNCAIP_ENST00000379533.2_Missense_Mutation_p.P795T|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000261368.8_Missense_Mutation_p.P748T|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.P350T|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.P306T|SNCAIP_ENST00000379536.2_Missense_Mutation_p.P688T|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.P382T|CTC-210G5.1_ENST00000505546.1_RNA			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	748					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TGGCCACAGCCCATCTCCCAC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	88	87			NA	NA	5		NA											NA				121786784		2203	4300	6503	SO:0001583	missense			AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692	9627	9627		Ankyrin repeat domain containing	11139	protein-coding gene	gene with protein product	synphilin	603779			NA	10319874	Standard		NM_001242935	NA	Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261367.7:c.2383C>A	5.37:g.121786784C>A	ENSP00000261367:p.Pro795Thr	NA	D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	37		.	.	.	.	.	.	.	.	.	.	C	18.50	3.637997	0.67130	.	.	ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317	T;T;T;T;T;T;T;T	0.17854	4.11;4.62;2.26;2.25;4.62;4.56;2.25;4.32	6.06	6.06	0.98353	.	0.227341	0.46758	D	0.000262	T	0.47801	0.1465	M	0.77313	2.365	0.54753	D	0.99998	D;D;D;D;D;D;D;D	0.89917	0.999;0.993;0.985;0.986;0.998;0.986;1.0;0.976	D;D;P;P;D;P;D;P	0.83275	0.989;0.949;0.901;0.791;0.986;0.843;0.996;0.7	T	0.39623	-0.9605	10	0.87932	D	0	-18.3831	20.6208	0.99490	0.0:1.0:0.0:0.0	.	688;376;350;688;382;382;795;748	D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5	.;.;.;.;.;.;.;SNCAP_HUMAN	T	306;688;748;795;688;382;795;350	ENSP00000441681:P306T;ENSP00000422106:P688T;ENSP00000261368:P748T;ENSP00000368848:P795T;ENSP00000368851:P688T;ENSP00000368854:P382T;ENSP00000261367:P795T;ENSP00000394392:P350T	ENSP00000261367:P795T	P	+	1	0	SNCAIP	121814683	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.308000	0.43690	2.882000	0.98803	0.655000	0.94253	CCA	SNCAIP-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000250889.2		+	ENST00000261367.7	Missense_Mutation	SNP	5 : 121786784 - 121786784 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	301	54
USP33	23032	broad.mit.edu	37	1	78167123	78167123	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78167123C>A	ENST00000370793.1	-	23	2879	c.2533G>T	c.(2533-2535)Gct>Tct	p.A845S	USP33_ENST00000370794.3_Missense_Mutation_p.A814S|USP33_ENST00000357428.1_Missense_Mutation_p.A845S	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	845	DUSP 2.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TAAAAAGTAGCTGGAGAGTCC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(152;72 1870 11110 26780 42647)							NA				0													115	125	122			NA	NA	1		NA											NA				78167123		2203	4300	6503	SO:0001583	missense			AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254	23032	23032		Ubiquitin-specific peptidases	20059	protein-coding gene	gene with protein product		615146	ubiquitin specific protease 33		NA	12838346	Standard	NM_015017	NM_015017	NA	Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.2533G>T	1.37:g.78167123C>A	ENSP00000359829:p.Ala845Ser	NA	Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	37	CCDS678.1	.	.	.	.	.	.	.	.	.	.	C	9.969	1.224830	0.22457	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428	T;T;T	0.09163	3.02;3.01;3.01	4.94	0.829	0.18847	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (2);	0.401148	0.26324	N	0.025032	T	0.00906	0.0030	N	0.03608	-0.345	0.38218	D	0.940662	B	0.14012	0.009	B	0.21360	0.034	T	0.45906	-0.9229	10	0.05351	T	0.99	.	5.2312	0.15422	0.2897:0.4901:0.0:0.2202	.	845	Q8TEY7	UBP33_HUMAN	S	814;845;845	ENSP00000359830:A814S;ENSP00000359829:A845S;ENSP00000350009:A845S	ENSP00000350009:A845S	A	-	1	0	USP33	77939711	0.983000	0.35010	0.995000	0.50966	0.987000	0.75469	1.599000	0.36751	-0.028000	0.13850	0.484000	0.47621	GCT	USP33-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026923.2		-	ENST00000370793.1	Missense_Mutation	SNP	1 : 78167123 - 78167123 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	631	50
MYO7A	4647	broad.mit.edu	37	11	76869383	76869383	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76869383G>A	ENST00000409709.3	+	9	1182	c.910G>A	c.(910-912)Gcc>Acc	p.A304T	MYO7A_ENST00000409893.1_Missense_Mutation_p.A304T|MYO7A_ENST00000458637.2_Missense_Mutation_p.A304T|MYO7A_ENST00000409619.2_Missense_Mutation_p.A293T	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	304	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CATCCGCTCCGCCATGAAGGT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	56	55			NA	NA	11		NA											NA				76869383		2150	4250	6400	SO:0001583	missense			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474	4647	4647		A-kinase anchor proteins, Myosins / Myosin superfamily : Class VII	7606	protein-coding gene	gene with protein product		276903	myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))	USH1B, DFNB2, DFNA11	NA	8884266	Standard	NM_000260	NM_000260	NA	Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.910G>A	11.37:g.76869383G>A	ENSP00000386331:p.Ala304Thr	NA	P78427|Q13321|Q14785|Q92821|Q92822	37	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006606	0.93287	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000343419	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	5.72	5.72	0.89469	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.92861	0.7729	M	0.93638	3.44	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.993;0.994;1.0	D	0.94018	0.7290	10	0.87932	D	0	.	19.8946	0.96949	0.0:0.0:1.0:0.0	.	304;304;304	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	T	304;304;304;293;303;303;303	ENSP00000386331:A304T;ENSP00000386689:A304T;ENSP00000392185:A304T;ENSP00000386635:A293T	ENSP00000340325:A303T	A	+	1	0	MYO7A	76547031	1.000000	0.71417	0.964000	0.40570	0.940000	0.58332	7.967000	0.87967	2.711000	0.92665	0.655000	0.94253	GCC	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328133.1		+	ENST00000409709.3	Missense_Mutation	SNP	11 : 76869383 - 76869383 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	190	42
HIST3H2BB	128312	broad.mit.edu	37	1	228646088	228646088	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228646088G>T	ENST00000369160.2	+	1	281	c.258G>T	c.(256-258)aaG>aaT	p.K86N		NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	86					nucleosome assembly	nucleosome|nucleus	DNA binding			skin(1)	1		Prostate(94;0.183)				ACTACAACAAGCGCTCCACCA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	83	86			NA	NA	1		NA											NA				228646088		2203	4300	6503	SO:0001583	missense			AY131981	CCDS1574.1	1q42.13	2011-01-27	2006-10-11		ENSG00000196890	ENSG00000196890	128312	128312		Histones / Replication-dependent	20514	protein-coding gene	gene with protein product		615046	histone 3, H2bb		NA	12408966	Standard	NM_175055	NM_175055	NA	Approved		uc001hsz.3	Q8N257	OTTHUMG00000040045	ENST00000369160.2:c.258G>T	1.37:g.228646088G>T	ENSP00000375736:p.Lys86Asn	NA	A4FU05|Q3ZCP6|Q5TA30	37	CCDS1574.1	.	.	.	.	.	.	.	.	.	.	.	24.2	4.510202	0.85282	.	.	ENSG00000196890	ENST00000369160	T	0.75050	-0.9	3.94	3.03	0.35002	Histone-fold (2);Histone core (1);	0.000000	0.64402	D	0.000008	D	0.82788	0.5113	M	0.85542	2.76	0.54753	D	0.999986	P	0.52692	0.955	P	0.56278	0.795	D	0.84800	0.0784	10	0.87932	D	0	.	10.1856	0.42995	0.1001:0.0:0.8999:0.0	.	86	Q8N257	H2B3B_HUMAN	N	86	ENSP00000375736:K86N	ENSP00000375736:K86N	K	+	3	2	HIST3H2BB	226712711	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.186000	0.58337	1.250000	0.43966	-0.225000	0.12378	AAG	HIST3H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096597.1		+	ENST00000369160.2	Missense_Mutation	SNP	1 : 228646088 - 228646088 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	712	121
CASR	846	broad.mit.edu	37	3	121980656	121980656	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121980656G>A	ENST00000498619.1	+	4	1212	c.774G>A	c.(772-774)gtG>gtA	p.V258V	CASR_ENST00000490131.1_Silent_p.V258V|CASR_ENST00000296154.5_Silent_p.V258V	NM_001178065.1	NP_001171536	P41180	CASR_HUMAN	calcium-sensing receptor	258					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGGTAGAGGTGATTCAAAATT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	133	130			NA	NA	3		NA											NA				121980656		2203	4300	6503	SO:0001819	synonymous_variant			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828	846	846		GPCR / Class C : Calcium-sensing receptors	1514	protein-coding gene	gene with protein product	severe neonatal hyperparathyroidism	601199	hypocalciuric hypercalcemia 1	HHC, HHC1	NA	7677761	Standard	NM_000388	NM_000388	NA	Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000498619.1:c.774G>A	3.37:g.121980656G>A		NA	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	37	CCDS54632.1																																																																																			CASR-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355762.1		+	ENST00000498619.1	Silent	SNP	3 : 121980656 - 121980656 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1014	207
KRTAP19-4	337971	broad.mit.edu	37	21	31869270	31869270	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31869270G>T	ENST00000334058.2	-	1	181	c.159C>A	c.(157-159)tgC>tgA	p.C53*		NM_181610.1	NP_853641.1	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	53						intermediate filament		p.C53C(1)		central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ATCCTCCATAGCATGATGGGC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	ovary(1)											130	133	132			NA	NA	21		NA											NA				31869270		2203	4300	6503	SO:0001587	stop_gained			AP001708	CCDS33534.1	21q22.1	2011-02-10			ENSG00000186967	ENSG00000186967	337971	337971		Keratin associated proteins	18939	protein-coding gene	gene with protein product					NA	12359730	Standard		NM_181610	NA	Approved	KAP19.4	uc011acz.2	Q3LI73	OTTHUMG00000057767	ENST00000334058.2:c.159C>A	21.37:g.31869270G>T	ENSP00000335567:p.Cys53*	NA	Q17RT4|Q17RT6	37	CCDS33534.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.509738	0.44660	.	.	ENSG00000186967	ENST00000334058	.	.	.	4.03	2.19	0.27852	.	.	.	.	.	.	.	.	.	.	.	0.35907	D	0.830791	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.6235	0.17470	0.109:0.2007:0.6903:0.0	.	.	.	.	X	53	.	ENSP00000335567:C53X	C	-	3	2	KRTAP19-4	30791141	0.015000	0.18098	0.002000	0.10522	0.234000	0.25298	1.132000	0.31418	0.643000	0.30638	0.591000	0.81541	TGC	KRTAP19-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128219.2		-	ENST00000334058.2	Nonsense_Mutation	SNP	21 : 31869270 - 31869270 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1045	86
SKA1	220134	broad.mit.edu	37	18	47911724	47911724	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47911724G>A	ENST00000285116.3	+	5	660		c.e5+1		SKA1_ENST00000488454.1_Intron|SKA1_ENST00000417656.2_Intron|SKA1_ENST00000398452.2_Splice_Site	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	NA					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						GTGTTCCTTCGTAAGTATTTA	0.294		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	90	94	92		,	3.9	1	18		92	1,8599	1.2+/-3.3	0,1,4299	no	splice-5,splice-5	SKA1	NM_001039535.2,NM_145060.3	,	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	,	,	47911724	1,13005	2203	4300	6503	SO:0001630	splice_region_variant			BC015706	CCDS11946.1	18q21.1	2013-01-17	2009-08-19	2009-08-19	ENSG00000154839	ENSG00000154839	220134	220134			28109	protein-coding gene	gene with protein product			chromosome 18 open reading frame 24	C18orf24	NA	17093495	Standard	NM_145060	NM_145060	NA	Approved	MGC10200	uc002leu.3	Q96BD8	OTTHUMG00000132685	ENST00000285116.3:c.449+1G>A	18.37:g.47911724G>A		NA	B2R9Y6|B4E0P4	37	CCDS11946.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997508	0.54147	0.0	1.16E-4	ENSG00000154839	ENST00000285116;ENST00000398452	.	.	.	5.66	3.88	0.44766	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5254	0.44945	0.1527:0.0:0.8473:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SKA1	46165722	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	5.776000	0.68924	0.869000	0.35703	0.655000	0.94253	.	SKA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255982.2	Intron	+	ENST00000285116.3	Splice_Site	SNP	18 : 47911724 - 47911724 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	360	52
CCDC57	284001	broad.mit.edu	37	17	80159511	80159511	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80159511G>A	ENST00000392343.3	-	3	664	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	CCDC57_ENST00000392347.1_Nonsense_Mutation_p.Q104*|CCDC57_ENST00000389641.4_Nonsense_Mutation_p.Q104*			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	104										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GCTAGCGCCTGCCTCAGCTTA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	34	32			NA	NA	17		NA											NA				80159511		2162	4265	6427	SO:0001587	stop_gained			BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155	284001	284001			27564	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_198082	XM_006722279	NA	Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000392343.3:c.310C>T	17.37:g.80159511G>A	ENSP00000376154:p.Gln104*	NA	A6NP51|A8MQC7|Q8IWG2|Q8TER3	37		.	.	.	.	.	.	.	.	.	.	G	19.52	3.843251	0.71488	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000392343	.	.	.	5.48	5.48	0.80851	.	0.313756	0.30311	N	0.009909	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-28.3715	16.8142	0.85729	0.0:0.0:1.0:0.0	.	.	.	.	X	104	.	ENSP00000374292:Q104X	Q	-	1	0	CCDC57	77752800	0.820000	0.29190	0.850000	0.33497	0.182000	0.23217	2.169000	0.42434	2.563000	0.86464	0.650000	0.86243	CAG	CCDC57-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000277183.1		-	ENST00000392343.3	Nonsense_Mutation	SNP	17 : 80159511 - 80159511 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	322	29
SLCO1A2	6579	broad.mit.edu	37	12	21459897	21459897	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21459897C>T	ENST00000458504.1	-	0	221				SLCO1A2_ENST00000537524.1_5'UTR|SLCO1A2_ENST00000307378.6_Missense_Mutation_p.V121I|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.V119I|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.V121I			P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	NA					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TTGCCTGAAACTGAAACTGTA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	103	106			NA	NA	12		NA											NA				21459897		2203	4300	6503	SO:0001623	5_prime_UTR_variant				CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453	6579	6579		Solute carriers	10956	protein-coding gene	gene with protein product		602883	solute carrier family 21 (organic anion transporter), member 3	SLC21A3	NA	9007731	Standard	NM_021094	NM_134431	NA	Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000458504.1:c.-36G>A	12.37:g.21459897C>T		NA	Q9UGP7|Q9UL38	37		.	.	.	.	.	.	.	.	.	.	C	9.435	1.086598	0.20390	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000390670;ENST00000422327;ENST00000453443	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12	4.2	-0.183	0.13284	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	4.090680	0.00357	N	0.000022	T	0.28928	0.0718	L	0.27053	0.805	0.09310	N	1	B;B;B	0.13145	0.005;0.007;0.001	B;B;B	0.12837	0.006;0.004;0.008	T	0.08046	-1.0741	10	0.20046	T	0.44	.	4.7947	0.13267	0.0:0.4951:0.1738:0.3311	.	101;119;121	Q8IV69;P46721-2;P46721	.;.;SO1A2_HUMAN	I	121;121;119;121;121	ENSP00000305974:V121I;ENSP00000393973:V121I;ENSP00000375088:V119I;ENSP00000416190:V121I;ENSP00000409314:V121I	ENSP00000305974:V121I	V	-	1	0	SLCO1A2	21351164	1.000000	0.71417	0.978000	0.43139	0.994000	0.84299	0.388000	0.20735	0.075000	0.16796	0.557000	0.71058	GTT	SLCO1A2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000343650.1		-	ENST00000458504.1	5'UTR	SNP	12 : 21459897 - 21459897 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	41
RNF146	81847	broad.mit.edu	37	6	127608756	127608756	+	Missense_Mutation	SNP	G	G	A	rs143742264		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127608756G>A	ENST00000368314.1	+	3	1422	c.998G>A	c.(997-999)cGa>cAa	p.R333Q	RNF146_ENST00000610153.1_Missense_Mutation_p.R333Q|RNF146_ENST00000608991.1_Missense_Mutation_p.R332Q|RNF146_ENST00000309649.3_Missense_Mutation_p.R332Q|RNF146_ENST00000356799.2_3'UTR	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	333					positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GGAACTGATCGATCAGTAGCA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	72	73			NA	NA	6		NA											NA				127608756		2203	4300	6503	SO:0001583	missense			AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518	81847	81847		RING-type (C3HC4) zinc fingers	21336	protein-coding gene	gene with protein product		612137			NA		Standard	NM_030963	NM_001242844	NA	Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	ENST00000368314.1:c.998G>A	6.37:g.127608756G>A	ENSP00000357297:p.Arg333Gln	NA	E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	37	CCDS56449.1	.	.	.	.	.	.	.	.	.	.	G	3.677	-0.066358	0.07273	.	.	ENSG00000118518	ENST00000368314;ENST00000356799;ENST00000309649	T;T;T	0.25579	1.79;1.79;1.79	4.61	-0.595	0.11660	.	1.108200	0.07123	N	0.844185	T	0.04770	0.0129	N	0.21448	0.665	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.41288	-0.9517	10	0.56958	D	0.05	0.0803	1.6901	0.02850	0.1802:0.3044:0.3591:0.1563	.	333	Q9NTX7	RN146_HUMAN	Q	333;332;332	ENSP00000357297:R333Q;ENSP00000349253:R332Q;ENSP00000309365:R332Q	ENSP00000309365:R332Q	R	+	2	0	RNF146	127650449	0.993000	0.37304	0.007000	0.13788	0.162000	0.22319	1.915000	0.39976	-0.231000	0.09825	0.585000	0.79938	CGA	RNF146-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042112.1		+	ENST00000368314.1	Missense_Mutation	SNP	6 : 127608756 - 127608756 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	382	64
GUF1	60558	broad.mit.edu	37	4	44691943	44691943	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:44691943C>T	ENST00000281543.5	+	11	1480	c.1286C>T	c.(1285-1287)aCc>aTc	p.T429I	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	429					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						ATTTTAACAACCCCTACTGTT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	103	103			NA	NA	4		NA											NA				44691943		2202	4299	6501	SO:0001583	missense				CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806	60558	60558			25799	protein-coding gene	gene with protein product					NA	8553703	Standard	NM_021927	NM_021927	NA	Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.1286C>T	4.37:g.44691943C>T	ENSP00000281543:p.Thr429Ile	NA	Q5XKM8|Q9H710|Q9H8U4	37	CCDS3468.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255489	0.59321	.	.	ENSG00000151806	ENST00000281543	T	0.69175	-0.38	5.76	5.76	0.90799	Elongation factor G/III/V (1);	0.159713	0.56097	D	0.000023	T	0.53367	0.1792	N	0.24115	0.695	0.37388	D	0.912331	P	0.36222	0.544	B	0.26517	0.07	T	0.63462	-0.6632	10	0.87932	D	0	-11.5246	19.3309	0.94288	0.0:1.0:0.0:0.0	.	429	Q8N442	GUF1_HUMAN	I	429	ENSP00000281543:T429I	ENSP00000281543:T429I	T	+	2	0	GUF1	44386700	1.000000	0.71417	0.996000	0.52242	0.928000	0.56348	5.649000	0.67936	2.880000	0.98712	0.650000	0.86243	ACC	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250469.3		+	ENST00000281543.5	Missense_Mutation	SNP	4 : 44691943 - 44691943 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	438	69
SLC35A3	23443	broad.mit.edu	37	1	100472710	100472710	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100472710C>T	ENST00000465289.1	+	4	855	c.463C>T	c.(463-465)Cag>Tag	p.Q155*	SLC35A3_ENST00000370155.3_Nonsense_Mutation_p.Q155*|SLC35A3_ENST00000370153.1_Nonsense_Mutation_p.Q197*|SLC35A3_ENST00000427993.2_Nonsense_Mutation_p.Q155*|SLC35A3_ENST00000370156.3_3'UTR	NM_001271684.1	NP_001258613.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	155					UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity			biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		TGCTTTTGTACAGGTAACTAT	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(7;298 356 944 2149 6911)							NA				0													97	102	100			NA	NA	1		NA											NA				100472710		2203	4300	6503	SO:0001587	stop_gained			AB021981	CCDS762.1, CCDS60204.1, CCDS60205.1	1p21	2013-05-22			ENSG00000117620	ENSG00000117620	23443	23443		Solute carriers	11023	protein-coding gene	gene with protein product		605632	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3		NA	10393322	Standard	NM_012243	NM_001271685	NA	Approved		uc001dsr.2	Q9Y2D2	OTTHUMG00000010805	ENST00000465289.1:c.463C>T	1.37:g.100472710C>T	ENSP00000418527:p.Gln155*	NA	A8K3F8|D3DT54|Q68CR2	37		.	.	.	.	.	.	.	.	.	.	C	37	6.147607	0.97324	.	.	ENSG00000117620	ENST00000370155;ENST00000465289;ENST00000427993;ENST00000370153;ENST00000422078	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.9071	18.1433	0.89647	0.0:1.0:0.0:0.0	.	.	.	.	X	155;155;155;197;155	.	ENSP00000359172:Q197X	Q	+	1	0	SLC35A3	100245298	1.000000	0.71417	0.989000	0.46669	0.921000	0.55340	7.487000	0.81328	2.292000	0.77174	0.655000	0.94253	CAG	SLC35A3-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000029784.1		+	ENST00000465289.1	Nonsense_Mutation	SNP	1 : 100472710 - 100472710 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	335	25
BZRAP1	9256	broad.mit.edu	37	17	56387922	56387922	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56387922T>C	ENST00000268893.6	-	19	4309	c.3470A>G	c.(3469-3471)gAg>gGg	p.E1157G	BZRAP1_ENST00000355701.3_Missense_Mutation_p.E1217G|BZRAP1_ENST00000343736.4_Missense_Mutation_p.E1217G	NM_024418.2	NP_077729.1	O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1217						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTGGCACATCTCGGTATTTGG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	48	46			NA	NA	17		NA											NA				56387922		2202	4300	6502	SO:0001583	missense			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09				9256	9256			16831	protein-coding gene	gene with protein product		610764			NA	9734811, 9915832	Standard	NM_004758	NM_004758	NA	Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000268893.6:c.3470A>G	17.37:g.56387922T>C	ENSP00000268893:p.Glu1157Gly	NA	O75111|Q8N5W3	37	CCDS45742.1	.	.	.	.	.	.	.	.	.	.	T	17.55	3.417196	0.62511	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	D;D;D	0.88509	-2.39;-2.39;-2.39	5.71	5.71	0.89125	.	0.390780	0.29515	N	0.011935	D	0.87826	0.6275	L	0.55481	1.735	0.09310	N	1	B;P;P	0.40066	0.155;0.592;0.701	B;B;B	0.42959	0.096;0.403;0.388	T	0.83166	-0.0096	10	0.56958	D	0.05	.	12.3744	0.55271	0.0:0.0:0.0:1.0	.	1217;1157;1217	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	G	1217;1217;1157	ENSP00000347929:E1217G;ENSP00000345824:E1217G;ENSP00000268893:E1157G	ENSP00000268893:E1157G	E	-	2	0	BZRAP1	53742921	0.020000	0.18652	0.008000	0.14137	0.002000	0.02628	1.988000	0.40697	2.180000	0.69256	0.379000	0.24179	GAG	BZRAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443978.1		-	ENST00000268893.6	Missense_Mutation	SNP	17 : 56387922 - 56387922 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	495	85
MAP4K2	5871	broad.mit.edu	37	11	64568445	64568445	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64568445C>T	ENST00000294066.2	-	9	680	c.589G>A	c.(589-591)Gtc>Atc	p.V197I	MAP4K2_ENST00000468062.1_5'UTR|MAP4K2_ENST00000377350.3_Missense_Mutation_p.V197I	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	197	Protein kinase.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						AGGGCCCAGACGTCACATAGC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	105	104			NA	NA	11		NA											NA				64568445		2201	4297	6498	SO:0001583	missense			BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067	5871	5871		Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases	6864	protein-coding gene	gene with protein product		603166		RAB8IP	NA	7515885	Standard	NM_004579	NM_004579	NA	Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.589G>A	11.37:g.64568445C>T	ENSP00000294066:p.Val197Ile	NA		37	CCDS8082.1	.	.	.	.	.	.	.	.	.	.	C	4.300	0.054915	0.08291	.	.	ENSG00000168067	ENST00000294066;ENST00000377350	T;T	0.25579	1.79;1.79	4.66	2.76	0.32466	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.138774	0.47852	D	0.000205	T	0.07188	0.0182	N	0.01250	-0.93	0.38384	D	0.945219	B;B	0.31625	0.332;0.278	B;B	0.34652	0.091;0.187	T	0.32107	-0.9919	10	0.02654	T	1	.	7.3691	0.26792	0.0:0.7191:0.0:0.2808	.	197;197	Q86VU3;Q12851	.;M4K2_HUMAN	I	197	ENSP00000294066:V197I;ENSP00000366567:V197I	ENSP00000294066:V197I	V	-	1	0	MAP4K2	64325021	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.214000	0.32419	0.513000	0.28278	0.456000	0.33151	GTC	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000105239.1		-	ENST00000294066.2	Missense_Mutation	SNP	11 : 64568445 - 64568445 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	785	137
PLXNC1	10154	broad.mit.edu	37	12	94673321	94673321	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:94673321T>C	ENST00000545312.1	+	0	464				PLXNC1_ENST00000547057.1_Missense_Mutation_p.V271A|PLXNC1_ENST00000258526.4_Missense_Mutation_p.V1224A|RP11-1105G2.3_ENST00000551941.1_Intron			O60486	PLXC1_HUMAN	plexin C1	NA					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCAGTCAATGTTCTCGACTGT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	103	104			NA	NA	12		NA											NA				94673321		2203	4300	6503	SO:0001623	5_prime_UTR_variant			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040	10154	10154		CD molecules, Plexins	9106	protein-coding gene	gene with protein product		604259			NA		Standard		NR_037687	NA	Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000545312.1:c.-113T>C	12.37:g.94673321T>C		NA	Q59H25	37		.	.	.	.	.	.	.	.	.	.	T	16.19	3.052600	0.55218	.	.	ENSG00000136040	ENST00000258526;ENST00000547057	T;T	0.19105	2.17;2.17	5.28	5.28	0.74379	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.055194	0.64402	D	0.000001	T	0.39358	0.1075	L	0.55103	1.725	0.80722	D	1	B;D	0.76494	0.311;0.999	B;D	0.87578	0.104;0.998	T	0.06320	-1.0833	10	0.22706	T	0.39	.	13.9286	0.63978	0.0:0.0:0.0:1.0	.	271;1224	B4DHQ7;O60486	.;PLXC1_HUMAN	A	1224;271	ENSP00000258526:V1224A;ENSP00000446720:V271A	ENSP00000258526:V1224A	V	+	2	0	PLXNC1	93197452	1.000000	0.71417	0.974000	0.42286	0.957000	0.61999	5.330000	0.65899	2.219000	0.72066	0.533000	0.62120	GTT	PLXNC1-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000408129.2		+	ENST00000545312.1	5'UTR	SNP	12 : 94673321 - 94673321 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	240	56
CDHR1	92211	broad.mit.edu	37	10	85973961	85973961	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85973961G>A	ENST00000372117.3	+	17	2267	c.2164G>A	c.(2164-2166)Gcc>Acc	p.A722T	CDHR1_ENST00000440770.2_Missense_Mutation_p.A426T|CDHR1_ENST00000332904.3_Intron	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	722					homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CATCTCCACCGCCACCTTCTG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	70	68			NA	NA	10		NA											NA				85973961		2203	4299	6502	SO:0001583	missense			AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600	92211	92211		Cadherins / Cadherin-related	14550	protein-coding gene	gene with protein product		609502	protocadherin 21	PCDH21	NA	11597768	Standard	NM_033100	NM_001171971	NA	Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.2164G>A	10.37:g.85973961G>A	ENSP00000361189:p.Ala722Thr	NA	Q69YZ8|Q8IXY5	37	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	35	5.544279	0.96488	.	.	ENSG00000148600	ENST00000372117;ENST00000440770	T;T	0.58652	0.56;0.32	5.53	5.53	0.82687	.	0.094075	0.64402	D	0.000001	T	0.75148	0.3810	M	0.72894	2.215	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	P;D	0.69479	0.9;0.964	T	0.75852	-0.3171	10	0.52906	T	0.07	-17.1913	18.2273	0.89921	0.0:0.0:1.0:0.0	.	426;722	E7EN47;Q96JP9	.;CDHR1_HUMAN	T	722;426	ENSP00000361189:A722T;ENSP00000415980:A426T	ENSP00000361189:A722T	A	+	1	0	CDHR1	85963941	1.000000	0.71417	0.963000	0.40424	0.852000	0.48524	7.632000	0.83247	2.596000	0.87737	0.561000	0.74099	GCC	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049111.1		+	ENST00000372117.3	Missense_Mutation	SNP	10 : 85973961 - 85973961 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	715	136
MYO9A	4649	broad.mit.edu	37	15	72176078	72176078	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72176078C>T	ENST00000564571.1	-	28	5415		c.e28-1		MYO9A_ENST00000424560.1_Splice_Site|MYO9A_ENST00000356056.5_Splice_Site|MYO9A_ENST00000444904.1_Splice_Site			B2RTY4	MYO9A_HUMAN	myosin IXA	NA					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCTCTGAGGTCTGTTTAAAGA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	123	124			NA	NA	15		NA											NA				72176078		2199	4297	6496	SO:0001630	splice_region_variant			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933	4649	4649		Myosins / Myosin superfamily : Class IX	7608	protein-coding gene	gene with protein product		604875			NA	10409426	Standard	NM_006901	NM_006901	NA	Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000564571.1:c.5256-1G>A	15.37:g.72176078C>T		NA	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	37		.	.	.	.	.	.	.	.	.	.	C	19.61	3.859482	0.71834	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	.	.	.	4.23	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0021	0.86384	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYO9A	69963132	1.000000	0.71417	0.996000	0.52242	0.944000	0.59088	6.736000	0.74811	2.061000	0.61500	0.557000	0.71058	.	MYO9A-015	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000420905.1	Intron	-	ENST00000564571.1	Splice_Site	SNP	15 : 72176078 - 72176078 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	322	58
KCNK6	9424	broad.mit.edu	37	19	38817902	38817902	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38817902G>A	ENST00000263372.3	+	3	908	c.801G>A	c.(799-801)gaG>gaA	p.E267E		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	267						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	GCCTCACGGAGCTCATCCTGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	60	63			NA	NA	19		NA											NA				38817902		2203	4300	6503	SO:0001819	synonymous_variant			AF117708	CCDS12513.1	19q13.1	2012-03-07				ENSG00000099337	9424	9424		Potassium channels, Voltage-gated ion channels / Potassium channels, Two-P	6281	protein-coding gene	gene with protein product		603939			NA	10075682, 10393428, 16382106	Standard	NM_004823	NM_004823	NA	Approved	K2p6.1, TWIK-2	uc002oic.3	Q9Y257		ENST00000263372.3:c.801G>A	19.37:g.38817902G>A		NA	Q9HB47	37	CCDS12513.1																																																																																			KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460524.1		+	ENST00000263372.3	Silent	SNP	19 : 38817902 - 38817902 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	457	75
IL17RD	54756	broad.mit.edu	37	3	57132156	57132156	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57132156C>T	ENST00000296318.7	-	12	1663	c.1575G>A	c.(1573-1575)acG>acA	p.T525T	IL17RD_ENST00000320057.5_Silent_p.T381T|IL17RD_ENST00000463523.1_Silent_p.T381T|IL17RD_ENST00000427856.2_Silent_p.T501T	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	525						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		TGCCCTGTCGCGTGTGCTGCC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	65	68			NA	NA	3		NA											NA				57132156		2203	4300	6503	SO:0001819	synonymous_variant			AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730	54756	54756		Interleukins and interleukin receptors	17616	protein-coding gene	gene with protein product		606807			NA	11802164, 12604616	Standard	NM_017563	NM_017563	NA	Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.1575G>A	3.37:g.57132156C>T		NA	Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	37	CCDS2880.2																																																																																			IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316680.1		-	ENST00000296318.7	Silent	SNP	3 : 57132156 - 57132156 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	228	40
AUH	549	broad.mit.edu	37	9	93978386	93978386	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93978386G>A	ENST00000375731.4	-	9	920	c.897C>T	c.(895-897)gtC>gtT	p.V299V	AUH_ENST00000303617.5_Silent_p.V270V	NM_001698.2	NP_001689.1	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-CoA hydratase	299					branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						TTACTAAATCGACCTGAGAAT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	109	112			NA	NA	9		NA											NA				93978386		2203	4300	6503	SO:0001819	synonymous_variant			X79888	CCDS6689.1	9q22	2014-09-17	2010-04-30		ENSG00000148090	ENSG00000148090	549	549			890	protein-coding gene	gene with protein product		600529	AU RNA-binding protein/enoyl-Coenzyme A hydratase, AU RNA binding protein/enoyl-Coenzyme A hydratase		NA	7892223	Standard		NM_001698	NA	Approved		uc004arf.4	Q13825	OTTHUMG00000020207	ENST00000375731.4:c.897C>T	9.37:g.93978386G>A		NA	B1ALV7|B1ALV8|Q8WUE4	37	CCDS6689.1																																																																																			AUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053032.1		-	ENST00000375731.4	Silent	SNP	9 : 93978386 - 93978386 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	321	56
PHIP	55023	broad.mit.edu	37	6	79671415	79671415	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79671415C>T	ENST00000275034.4	-	31	3815	c.3648G>A	c.(3646-3648)agG>agA	p.R1216R	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1216	Bromo 1.				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ACCTGTAAAACCTGTTTTCCA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	112	117			NA	NA	6		NA											NA				79671415		2203	4300	6503	SO:0001819	synonymous_variant			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247	55023	55023		WD repeat domain containing, DDB1 and CUL4 associated factors	15673	protein-coding gene	gene with protein product	DDB1 and CUL4 associated factor 14	612870		WDR11	NA	11018022	Standard		NM_017934	NA	Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.3648G>A	6.37:g.79671415C>T		NA	B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	37	CCDS4987.1																																																																																			PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041297.2		-	ENST00000275034.4	Silent	SNP	6 : 79671415 - 79671415 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	252	44
CCKAR	886	broad.mit.edu	37	4	26483762	26483762	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26483762T>G	ENST00000295589.3	-	5	979	c.785A>C	c.(784-786)aAa>aCa	p.K262T		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	262					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GTCCTCATATTTGCCGCTGCT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	77	75			NA	NA	4		NA											NA				26483762		2203	4300	6503	SO:0001583	missense			L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394	886	886		GPCR / Class A : Cholecystokinin receptors	1570	protein-coding gene	gene with protein product		118444			NA		Standard		NM_000730	NA	Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.785A>C	4.37:g.26483762T>G	ENSP00000295589:p.Lys262Thr	NA	B2R9Z5	37	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	T	1.656	-0.512836	0.04200	.	.	ENSG00000163394	ENST00000295589	T	0.52057	0.68	5.22	-1.58	0.08479	GPCR, rhodopsin-like superfamily (1);	0.297788	0.35870	N	0.002939	T	0.28400	0.0702	L	0.47716	1.5	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.15925	-1.0420	10	0.12103	T	0.63	.	2.5809	0.04818	0.1187:0.2967:0.1177:0.4669	.	262	P32238	CCKAR_HUMAN	T	262	ENSP00000295589:K262T	ENSP00000295589:K262T	K	-	2	0	CCKAR	26092860	0.943000	0.32029	0.000000	0.03702	0.023000	0.10783	1.881000	0.39638	-0.333000	0.08476	-0.624000	0.04008	AAA	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250418.2		-	ENST00000295589.3	Missense_Mutation	SNP	4 : 26483762 - 26483762 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	651	125
USO1	8615	broad.mit.edu	37	4	76692258	76692258	+	Missense_Mutation	SNP	C	C	G	rs146437956	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76692258C>G	ENST00000538159.1	+	7	529	c.529C>G	c.(529-531)Cta>Gta	p.L177V	USO1_ENST00000514213.2_Missense_Mutation_p.L160V			O60763	USO1_HUMAN	USO1 vesicle transport factor	175	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GATGGACTTACTAGCGGATTC	0.308		NA											C	1	5e-04	NA	0.0028	2184	NA	0.9997	,	,	NA	3e-04	NA	NA	NA	6e-04	0.809	LOWCOV	NA	NA	6e-04	SNP								NA				0													117	100	105			NA	NA	4		NA											NA				76692258		1822	4092	5914	SO:0001583	missense			AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768	8615	8615			30904	protein-coding gene	gene with protein product	vesicle docking protein, transcytosis associated protein	603344	USO1 homolog, vesicle docking protein (yeast), USO1 vesicle docking protein homolog (yeast)		NA	9478999, 9150144, 12077354, 15979508, 14736916	Standard	NM_003715	XM_006714395	NA	Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.529C>G	4.37:g.76692258C>G	ENSP00000440586:p.Leu177Val	NA	B2RAQ0|Q6PK63|Q86TB8|Q8N592	37		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	17.07	3.295594	0.60086	.	.	ENSG00000138768	ENST00000508939;ENST00000538159;ENST00000514213;ENST00000264904	T;T	0.63580	-0.05;-0.05	5.44	-6.59	0.01830	Armadillo-type fold (2);	0.155107	0.42172	D	0.000748	T	0.80369	0.4610	M	0.92169	3.28	0.37146	D	0.901955	D;P	0.76494	0.999;0.755	D;P	0.66716	0.946;0.662	D	0.85201	0.1015	10	0.87932	D	0	.	19.9368	0.97143	0.0:0.7953:0.0:0.2047	.	177;175	F5GYR8;O60763	.;USO1_HUMAN	V	10;177;160;103	ENSP00000440586:L177V;ENSP00000444850:L160V	ENSP00000264904:L103V	L	+	1	2	USO1	76911282	0.006000	0.16342	0.668000	0.29813	0.983000	0.72400	-0.294000	0.08309	-1.434000	0.01975	-0.302000	0.09304	CTA	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding			+	ENST00000538159.1	Missense_Mutation	SNP	4 : 76692258 - 76692258 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	174	29
REV1	51455	broad.mit.edu	37	2	100029261	100029261	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100029261G>A	ENST00000258428.3	-	13	2332	c.2104C>T	c.(2104-2106)Cca>Tca	p.P702S	REV1_ENST00000393445.3_Missense_Mutation_p.P701S|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	702					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTTCGAACTGGTCTATCATCC	0.403		NA						Direct reversal of damage						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	114	118			NA	NA	2		NA											NA				100029261		2203	4300	6503	SO:0001583	missense			AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945	51455	51455		DNA polymerases	14060	protein-coding gene	gene with protein product		606134	REV1 (yeast homolog)- like, REV1-like (yeast), REV1 homolog (S. cerevisiae)	REV1L	NA	10536157	Standard	NM_016316	XM_005263968	NA	Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.2104C>T	2.37:g.100029261G>A	ENSP00000258428:p.Pro702Ser	NA	O95941|Q53SI7|Q9C0J4|Q9NUP2	37	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.023083	0.93462	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.42900	0.96;0.96	5.46	5.46	0.80206	DNA polymerase, Y-family, little finger domain (1);	0.000000	0.85682	D	0.000000	T	0.59838	0.2223	L	0.49126	1.545	0.80722	D	1	D;D	0.76494	0.982;0.999	P;D	0.72075	0.824;0.976	T	0.53365	-0.8449	10	0.32370	T	0.25	.	19.3712	0.94488	0.0:0.0:1.0:0.0	.	702;701	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	S	701;702	ENSP00000377091:P701S;ENSP00000258428:P702S	ENSP00000258428:P702S	P	-	1	0	REV1	99395693	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.035000	0.93752	2.563000	0.86464	0.650000	0.86243	CCA	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253123.2		-	ENST00000258428.3	Missense_Mutation	SNP	2 : 100029261 - 100029261 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	562	140
LINGO2	158038	broad.mit.edu	37	9	27950337	27950337	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:27950337G>A	ENST00000379992.2	-	6	782	c.333C>T	c.(331-333)cgC>cgT	p.R111R	LINGO2_ENST00000308675.3_Silent_p.R111R	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	111						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TGCCTTTTAGGCGGAGGGAAC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	142	143			NA	NA	9		NA											NA				27950337		2203	4300	6503	SO:0001819	synonymous_variant			AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482	158038	158038		Immunoglobulin superfamily / I-set domain containing	21207	protein-coding gene	gene with protein product		609793	leucine rich repeat neuronal 6C	LRRN6C	NA	14686891	Standard	NM_152570	NM_152570	NA	Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.333C>T	9.37:g.27950337G>A		NA	A8K4K7|B2RPM5|Q6ZMD0	37	CCDS6524.1																																																																																			LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051978.2		-	ENST00000379992.2	Silent	SNP	9 : 27950337 - 27950337 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	615	23
C1QC	714	broad.mit.edu	37	1	22973816	22973816	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22973816C>T	ENST00000374639.3	+	3	396	c.278C>T	c.(277-279)cCt>cTt	p.P93L	C1QC_ENST00000374640.4_Missense_Mutation_p.P93L|C1QC_ENST00000374637.1_Missense_Mutation_p.P93L	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	93	Collagen-like.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATGGGACCCCCTGGGATGCCA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(26;671 750 8290 29071 43278)							NA				0													33	39	37			NA	NA	1		NA											NA				22973816		2203	4300	6503	SO:0001583	missense			AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189	714	714		Complement system	1245	protein-coding gene	gene with protein product		120575	complement component 1, q subcomponent, gamma polypeptide	C1QG	NA	1706597	Standard	NM_172369	NM_001114101	NA	Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.278C>T	1.37:g.22973816C>T	ENSP00000363770:p.Pro93Leu	NA	Q7Z502|Q96DL2|Q96H05	37	CCDS227.1	.	.	.	.	.	.	.	.	.	.	C	5.744	0.321665	0.10845	.	.	ENSG00000159189	ENST00000374640;ENST00000374639;ENST00000374637	D;D;D	0.96885	-4.16;-4.16;-4.16	4.94	4.02	0.46733	.	1.052530	0.07347	N	0.881735	D	0.93946	0.8062	L	0.54965	1.715	0.09310	N	1	B	0.18310	0.027	B	0.14578	0.011	D	0.85010	0.0905	10	0.29301	T	0.29	.	8.0291	0.30454	0.0:0.8176:0.0:0.1824	.	93	P02747	C1QC_HUMAN	L	93	ENSP00000363771:P93L;ENSP00000363770:P93L;ENSP00000363768:P93L	ENSP00000363768:P93L	P	+	2	0	C1QC	22846403	0.000000	0.05858	0.038000	0.18304	0.490000	0.33462	1.274000	0.33132	2.280000	0.76307	0.561000	0.74099	CCT	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000008083.1		+	ENST00000374639.3	Missense_Mutation	SNP	1 : 22973816 - 22973816 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	353	28
DBNDD2	55861	broad.mit.edu	37	20	44037151	44037151	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44037151G>A	ENST00000372712.2	+	2	625	c.44G>A	c.(43-45)cGc>cAc	p.R15H	DBNDD2_ENST00000372710.3_Missense_Mutation_p.R117H|DBNDD2_ENST00000372717.1_Missense_Mutation_p.R15H|SYS1-DBNDD2_ENST00000452133.1_3'UTR|DBNDD2_ENST00000372722.3_Missense_Mutation_p.R15H|DBNDD2_ENST00000372723.3_Missense_Mutation_p.R15H|DBNDD2_ENST00000360981.4_Missense_Mutation_p.R15H|SYS1-DBNDD2_ENST00000475242.1_3'UTR|DBNDD2_ENST00000372720.3_Missense_Mutation_p.R113H|DBNDD2_ENST00000357275.2_Missense_Mutation_p.R15H			Q9BQY9	DBND2_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 2	113					negative regulation of protein kinase activity	cytoplasm	protein binding			breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				CAGCAGCTCCGCCTTCGGGAG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	66	65			NA	NA	20		NA											NA				44037151		1873	4102	5975	SO:0001583	missense			AF220191	CCDS42880.1, CCDS42881.1, CCDS56193.1, CCDS56194.1	20q13.12	2007-07-23	2006-04-04	2006-04-04	ENSG00000244274	ENSG00000244274	55861	55861			15881	protein-coding gene	gene with protein product		611453	chromosome 20 open reading frame 35	C20orf35	NA		Standard	NM_018478	NM_001048225	NA	Approved	HSMNP1	uc002xof.3	Q9BQY9	OTTHUMG00000032576	ENST00000372712.2:c.44G>A	20.37:g.44037151G>A	ENSP00000361797:p.Arg15His	NA	Q9BQZ0|Q9BVL1|Q9H1F6|Q9NWZ0|Q9NY07|Q9NZ31	37	CCDS42880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.9|27.9	4.868796|4.868796	0.91587|0.91587	.|.	.|.	ENSG00000244274|ENSG00000244274	ENST00000443296|ENST00000372723;ENST00000372722;ENST00000357275;ENST00000372720;ENST00000372717;ENST00000360981;ENST00000372712;ENST00000372710	.|T;T;T;T;T;T;T;T	.|0.30981	.|1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51	5.61|5.61	4.65|4.65	0.58169|0.58169	.|.	.|0.142639	.|0.45606	.|D	.|0.000356	T|T	0.26159|0.26159	0.0638|0.0638	M|M	0.62723|0.62723	1.935|1.935	0.38404|0.38404	D|D	0.945735|0.945735	.|B;B	.|0.31351	.|0.155;0.32	.|B;B	.|0.20955	.|0.022;0.032	T|T	0.19679|0.19679	-1.0298|-1.0298	5|10	.|0.54805	.|T	.|0.06	.|.	7.207|7.207	0.25913|0.25913	0.1654:0.0:0.8346:0.0|0.1654:0.0:0.8346:0.0	.|.	.|15;113	.|Q5QPV4;Q9BQY9	.|.;DBND2_HUMAN	T|H	75|15;15;15;113;15;15;15;117	.|ENSP00000361808:R15H;ENSP00000361807:R15H;ENSP00000349822:R15H;ENSP00000361805:R113H;ENSP00000361802:R15H;ENSP00000354250:R15H;ENSP00000361797:R15H;ENSP00000361795:R117H	.|ENSP00000349822:R15H	A|R	+|+	1|2	0|0	DBNDD2|DBNDD2	43470565|43470565	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	1.000000|1.000000	0.99986|0.99986	5.342000|5.342000	0.65970|0.65970	2.636000|2.636000	0.89361|0.89361	0.655000|0.655000	0.94253|0.94253	GCC|CGC	DBNDD2-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079443.2		+	ENST00000372712.2	Missense_Mutation	SNP	20 : 44037151 - 44037151 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	660	126
DCHS1	8642	broad.mit.edu	37	11	6662109	6662109	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6662109G>T	ENST00000299441.3	-	2	1147	c.736C>A	c.(736-738)Ctg>Atg	p.L246M		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	246	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGATGTCCAGCAGTGTCACG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	105	105			NA	NA	11		NA											NA				6662109		2201	4296	6497	SO:0001583	missense			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341	8642	8642		Cadherins / Cadherin-related	13681	protein-coding gene	gene with protein product	cadherin-related family member 6	603057	protocadherin 16, dachsous 1 (Drosophila)	CDH25, PCDH16	NA	9199196	Standard	NM_003737	XM_005253207	NA	Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.736C>A	11.37:g.6662109G>T	ENSP00000299441:p.Leu246Met	NA	O15098	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.479284	0.44044	.	.	ENSG00000166341	ENST00000299441	T	0.43688	0.94	4.71	3.73	0.42828	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.218597	0.23340	N	0.049245	T	0.67287	0.2877	M	0.87381	2.88	0.28461	N	0.915875	D	0.76494	0.999	D	0.87578	0.998	T	0.63559	-0.6610	10	0.45353	T	0.12	.	14.5287	0.67909	0.0:0.1468:0.8532:0.0	.	246	Q96JQ0	PCD16_HUMAN	M	246	ENSP00000299441:L246M	ENSP00000299441:L246M	L	-	1	2	DCHS1	6618685	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.325000	0.52030	2.312000	0.78011	0.544000	0.68410	CTG	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257258.1		-	ENST00000299441.3	Missense_Mutation	SNP	11 : 6662109 - 6662109 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	685	44
P2RX6	9127	broad.mit.edu	37	22	21380774	21380774	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21380774A>G	ENST00000413302.2	+	12	1342	c.1194A>G	c.(1192-1194)cgA>cgG	p.R398R	P2RX6_ENST00000336296.2_Silent_p.R388R|P2RX6_ENST00000401443.1_Silent_p.R372R|P2RX6_ENST00000443995.3_Silent_p.R345R|P2RX6_ENST00000402329.3_3'UTR			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	398					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity				NA						CCCAAGCCCGACTGGCCGAGT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	44	46			NA	NA	22		NA											NA				21380774		2203	4292	6495	SO:0001819	synonymous_variant				CCDS13788.2, CCDS54504.1	22q11.21	2012-01-17	2008-03-28	2008-03-28	ENSG00000099957	ENSG00000099957	9127	9127		Purinergic receptors, Ligand-gated ion channels / Purinergic receptors, ionotropic	8538	protein-coding gene	gene with protein product		608077	purinergic receptor P2X-like 1, orphan receptor	P2RXL1	NA	9242461, 10591208, 8786426	Standard	NM_005446	NM_005446	NA	Approved	P2XM, MGC129625, P2X6	uc010gsu.1	O15547	OTTHUMG00000150689	ENST00000413302.2:c.1194A>G	22.37:g.21380774A>G		NA	Q58F04|Q6IC33|Q9UL50	37	CCDS13788.2																																																																																			P2RX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319625.2		+	ENST00000413302.2	Silent	SNP	22 : 21380774 - 21380774 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	53	11
MYT1	4661	broad.mit.edu	37	20	62839080	62839080	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62839080G>T	ENST00000328439.1	+	7	895	c.531G>T	c.(529-531)gaG>gaT	p.E177D	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Missense_Mutation_p.E177D	NM_004535.2	NP_004526.1	Q01538	MYT1_HUMAN	myelin transcription factor 1	177					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TTGCTGAAGAGACCCTGGTGG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(59;481 1041 20555 21139 33705)							NA				0													66	65	65			NA	NA	20		NA											NA				62839080		2203	4300	6503	SO:0001583	missense			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132	4661	4661		Zinc fingers, C2HC-type containing	7622	protein-coding gene	gene with protein product	neural zinc finger transcription factor 2	600379		PLPB1	NA	1280325, 9268380	Standard	NM_004535	NM_004535	NA	Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.531G>T	20.37:g.62839080G>T	ENSP00000327465:p.Glu177Asp	NA	E1P5H0|O94922|Q9UPV2	37	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	g	9.517	1.107190	0.20714	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.47528	0.85;0.84	4.72	3.65	0.41850	.	0.186992	0.41396	D	0.000894	T	0.32406	0.0828	L	0.59436	1.845	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.23583	-1.0184	10	0.02654	T	1	-17.0321	3.1077	0.06347	0.4368:0.0:0.5632:0.0	.	177	Q01538	MYT1_HUMAN	D	177	ENSP00000327465:E177D;ENSP00000442412:E177D	ENSP00000327465:E177D	E	+	3	2	MYT1	62309524	1.000000	0.71417	0.158000	0.22627	0.219000	0.24729	0.842000	0.27627	2.188000	0.69820	0.552000	0.68991	GAG	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080297.1		+	ENST00000328439.1	Missense_Mutation	SNP	20 : 62839080 - 62839080 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	382	9
CDC5L	988	broad.mit.edu	37	6	44371706	44371706	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44371706G>A	ENST00000371477.3	+	6	999	c.700G>A	c.(700-702)Gct>Act	p.A234T		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	234					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AAACTACCAAGCTCTTGACGC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	72	70			NA	NA	6		NA											NA				44371706		2203	4300	6503	SO:0001583	missense			D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401	988	988			1743	protein-coding gene	gene with protein product		602868	CDC5 (cell division cycle 5, S. pombe, homolog)-like, CDC5 cell division cycle 5-like (S. pombe)		NA	9598309, 9038199	Standard		NM_001253	NA	Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.700G>A	6.37:g.44371706G>A	ENSP00000360532:p.Ala234Thr	NA	Q76N46|Q99974	37	CCDS4912.1	.	.	.	.	.	.	.	.	.	.	G	9.344	1.063710	0.20067	.	.	ENSG00000096401	ENST00000371477	T	0.42513	0.97	6.04	2.18	0.27775	.	0.513757	0.22903	N	0.054234	T	0.09024	0.0223	L	0.31752	0.955	0.27819	N	0.941867	B	0.02656	0.0	B	0.04013	0.001	T	0.37079	-0.9721	10	0.14656	T	0.56	-2.4246	5.9318	0.19142	0.1846:0.0:0.4174:0.398	.	234	Q99459	CDC5L_HUMAN	T	234	ENSP00000360532:A234T	ENSP00000360532:A234T	A	+	1	0	CDC5L	44479684	0.448000	0.25681	0.998000	0.56505	0.799000	0.45148	-0.073000	0.11468	0.110000	0.17919	0.563000	0.77884	GCT	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040743.1		+	ENST00000371477.3	Missense_Mutation	SNP	6 : 44371706 - 44371706 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	529	98
CR2	1380	broad.mit.edu	37	1	207643379	207643379	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207643379A>G	ENST00000367057.3	+	6	1346	c.1157A>G	c.(1156-1158)aAg>aGg	p.K386R	CR2_ENST00000367059.3_Missense_Mutation_p.K386R|CR2_ENST00000458541.2_Missense_Mutation_p.K386R|CR2_ENST00000367058.3_Missense_Mutation_p.K386R	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	386	Sushi 6.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TTCACCTTGAAGGGCAGCAAG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	90	93			NA	NA	1		NA											NA				207643379		2203	4300	6503	SO:0001583	missense			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322	1380	1380		CD molecules, Complement system	2336	protein-coding gene	gene with protein product		120650			NA		Standard	NM_001877	NM_001006658	NA	Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367057.3:c.1157A>G	1.37:g.207643379A>G	ENSP00000356024:p.Lys386Arg	NA	Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	37	CCDS31007.1	.	.	.	.	.	.	.	.	.	.	A	16.19	3.051888	0.55218	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.09	5.09	0.68999	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.52191	0.1719	L	0.33339	1.005	0.44359	D	0.997251	P;P;B	0.45634	0.863;0.522;0.296	P;B;B	0.45712	0.491;0.38;0.259	T	0.45775	-0.9238	9	0.11794	T	0.64	.	11.8312	0.52297	1.0:0.0:0.0:0.0	.	386;386;386	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	R	386	ENSP00000356025:K386R;ENSP00000356024:K386R;ENSP00000356026:K386R;ENSP00000404222:K386R	ENSP00000356024:K386R	K	+	2	0	CR2	205710002	1.000000	0.71417	1.000000	0.80357	0.449000	0.32228	1.476000	0.35420	2.225000	0.72522	0.459000	0.35465	AAG	CR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088325.1		+	ENST00000367057.3	Missense_Mutation	SNP	1 : 207643379 - 207643379 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	338	84
SLC22A17	51310	broad.mit.edu	37	14	23821156	23821156	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23821156C>T	ENST00000354772.3	-	2	771		c.e2+1		SLC22A17_ENST00000474057.1_Splice_Site|SLC22A17_ENST00000397260.3_Splice_Site|SLC22A17_ENST00000397267.1_Splice_Site|SLC22A17_ENST00000206544.8_Splice_Site	NM_016609.3	NP_057693.3	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	NA					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GGCCGCCTCACCTGGCCGATG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	20	19			NA	NA	14		NA											NA				23821156		2195	4291	6486	SO:0001630	splice_region_variant			AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096	51310	51310		Solute carriers	23095	protein-coding gene	gene with protein product	neutrophil gelatinase-associated lipocalin receptor	611461			NA	16377569	Standard	NM_020372	NM_016609	NA	Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000354772.3:c.267+1G>A	14.37:g.23821156C>T		NA	A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	37	CCDS9594.2	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270684	0.59540	.	.	ENSG00000092096	ENST00000354772;ENST00000397260;ENST00000206544;ENST00000397267	.	.	.	3.67	3.67	0.42095	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7391	0.46143	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC22A17	22890996	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	0.987000	0.29603	1.867000	0.54127	0.462000	0.41574	.	SLC22A17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071769.4	Intron	-	ENST00000354772.3	Splice_Site	SNP	14 : 23821156 - 23821156 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	168	36
CDK5RAP3	80279	broad.mit.edu	37	17	46056230	46056230	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46056230A>T	ENST00000536708.2	+	11	1208	c.1099A>T	c.(1099-1101)Aca>Tca	p.T367S	CDK5RAP3_ENST00000338399.4_Missense_Mutation_p.T342S|CDK5RAP3_ENST00000578663.1_3'UTR	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	342					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						AGATGCCCTGACACTGCTTGA	0.537		NA									OREG0024508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	96	98			NA	NA	17		NA											NA				46056230		1942	4167	6109	SO:0001583	missense			AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465	80279	80279			18673	protein-coding gene	gene with protein product	ischemic heart CDK5 activator-binding protein C53, LXXLL/leucine-zipper-containing ARFbinding protein	608202			NA	10721722	Standard	NM_176096	NM_176096	NA	Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000536708.2:c.1099A>T	17.37:g.46056230A>T	ENSP00000438886:p.Thr367Ser	936	D3DTU1|D3DTU2|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	37		.	.	.	.	.	.	.	.	.	.	A	11.61	1.689435	0.29962	.	.	ENSG00000108465	ENST00000536708;ENST00000338399	T;T	0.45276	0.9;0.9	5.18	5.18	0.71444	.	0.329096	0.32935	N	0.005468	T	0.25901	0.0631	N	0.25060	0.705	0.41095	D	0.985628	B;B;B;B	0.26845	0.161;0.097;0.068;0.019	B;B;B;B	0.28991	0.058;0.039;0.097;0.015	T	0.08310	-1.0728	10	0.08599	T	0.76	3.0927	9.5267	0.39169	0.8426:0.0:0.0:0.1574	.	367;255;342;117	F5H3I5;Q96JB5-2;Q96JB5;Q96JB5-3	.;.;CK5P3_HUMAN;.	S	367;342	ENSP00000438886:T367S;ENSP00000344683:T342S	ENSP00000344683:T342S	T	+	1	0	CDK5RAP3	43411229	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.106000	0.50322	2.168000	0.68352	0.533000	0.62120	ACA	CDK5RAP3-010	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000442910.1		+	ENST00000536708.2	Missense_Mutation	SNP	17 : 46056230 - 46056230 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	525	81
CCDC85A	114800	broad.mit.edu	37	2	56420278	56420278	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56420278G>T	ENST00000407595.2	+	2	1445	c.943G>T	c.(943-945)Gaa>Taa	p.E315*	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	315	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGGGAGCCCGGAACACTTCCA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	70	67			NA	NA	2		NA											NA				56420278		2030	4185	6215	SO:0001587	stop_gained			AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813	114800	114800			29400	protein-coding gene	gene with protein product					NA	11572484	Standard		NM_001080433	NA	Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.943G>T	2.37:g.56420278G>T	ENSP00000384040:p.Glu315*	NA		37	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	G	43	10.239125	0.99366	.	.	ENSG00000055813	ENST00000407595	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-12.2501	19.0598	0.93085	0.0:0.0:1.0:0.0	.	.	.	.	X	315	.	ENSP00000384040:E315X	E	+	1	0	CCDC85A	56273782	1.000000	0.71417	0.115000	0.21578	0.935000	0.57460	6.664000	0.74437	2.507000	0.84556	0.591000	0.81541	GAA	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324993.1		+	ENST00000407595.2	Nonsense_Mutation	SNP	2 : 56420278 - 56420278 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	652	42
ABCA9	10350	broad.mit.edu	37	17	67022579	67022579	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67022579G>T	ENST00000340001.4	-	16	2291	c.2080C>A	c.(2080-2082)Ctg>Atg	p.L694M	ABCA9_ENST00000453985.2_Missense_Mutation_p.L694M|ABCA9_ENST00000370732.2_Missense_Mutation_p.L694M	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	694	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GCACACTTCAGCTTCCCATTG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													230	220	224			NA	NA	17		NA											NA				67022579		2203	4300	6503	SO:0001583	missense			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258	10350	10350		ATP binding cassette transporters / subfamily A	39	protein-coding gene	gene with protein product		612507			NA		Standard	NM_172386	XM_005256934	NA	Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2080C>A	17.37:g.67022579G>T	ENSP00000342216:p.Leu694Met	NA	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	37	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007234	0.54361	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.94330	-3.4;-3.4	5.43	4.47	0.54385	ABC transporter-like (1);	0.000000	0.37857	N	0.001907	D	0.95456	0.8524	L	0.57536	1.79	0.52099	D	0.999941	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95684	0.8734	10	0.87932	D	0	.	13.0931	0.59176	0.0782:0.0:0.9218:0.0	.	694;694	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	M	694;677;694;689	ENSP00000342216:L694M;ENSP00000359767:L694M	ENSP00000342216:L694M	L	-	1	2	ABCA9	64534174	0.857000	0.29778	0.987000	0.45799	0.321000	0.28281	1.123000	0.31308	1.437000	0.47472	0.655000	0.94253	CTG	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277072.2		-	ENST00000340001.4	Missense_Mutation	SNP	17 : 67022579 - 67022579 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1079	250
PDZD7	79955	broad.mit.edu	37	10	102777979	102777979	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102777979G>T	ENST00000370215.3	-	9	1624	c.1399C>A	c.(1399-1401)Ctg>Atg	p.L467M		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	467						cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		AGGTTCATCAGCGTCTTGGAG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	65	65			NA	NA	10		NA											NA				102777979		2203	4300	6503	SO:0001583	missense			AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862	79955	79955			26257	protein-coding gene	gene with protein product		612971		PDZK7	NA	12477932	Standard	NM_024895	NM_024895	NA	Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.1399C>A	10.37:g.102777979G>T	ENSP00000359234:p.Leu467Met	NA	D5FJ77|Q8N321	37	CCDS31269.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908545	0.72868	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.15372	2.43	4.12	4.12	0.48240	.	0.953905	0.08577	N	0.925156	T	0.34135	0.0887	L	0.40543	1.245	0.28043	N	0.933661	D;D	0.76494	0.996;0.999	P;D	0.67548	0.823;0.952	T	0.24905	-1.0147	10	0.56958	D	0.05	.	14.3404	0.66622	0.0:0.0:1.0:0.0	.	467;467	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	M	467	ENSP00000359234:L467M	ENSP00000359234:L467M	L	-	1	2	PDZD7	102767969	0.999000	0.42202	0.995000	0.50966	0.995000	0.86356	3.358000	0.52284	2.117000	0.64856	0.555000	0.69702	CTG	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049883.1		-	ENST00000370215.3	Missense_Mutation	SNP	10 : 102777979 - 102777979 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	520	91
TTLL6	284076	broad.mit.edu	37	17	46868909	46868909	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46868909A>G	ENST00000393382.3	-	9	1196	c.1055T>C	c.(1054-1056)aTa>aCa	p.I352T	TTLL6_ENST00000433608.2_Missense_Mutation_p.I45T	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	304	TTL.					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						ATCCCTCCATATCTGCTCCAC	0.547		NA									OREG0024526	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													322	224	257			NA	NA	17		NA											NA				46868909		2203	4300	6503	SO:0001583	missense			AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703	284076	284076		Tubulin tyrosine ligase-like family	26664	protein-coding gene	gene with protein product		610849			NA	15890843	Standard	NM_173623	NM_173623	NA	Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1055T>C	17.37:g.46868909A>G	ENSP00000377043:p.Ile352Thr	942	B4DZJ5|C9J233|Q24KB1|Q24KB2|Q24KB6|Q24KF3|Q24KJ5|Q24KN7|Q24KS9|Q24KX1|Q24L13|Q24L55|Q24L76|Q8IYW6|Q8NA62	37	CCDS45724.1	.	.	.	.	.	.	.	.	.	.	A	19.81	3.896390	0.72639	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	5.77	5.77	0.91146	.	0.271733	0.34110	N	0.004252	T	0.77274	0.4106	M	0.67700	2.07	0.40567	D	0.981267	P;D;D	0.71674	0.749;0.998;0.986	P;D;P	0.72625	0.657;0.978;0.76	T	0.80141	-0.1506	9	0.72032	D	0.01	.	15.3639	0.74503	1.0:0.0:0.0:0.0	.	304;105;45	Q8N841;D3DTW0;G5E937	TTLL6_HUMAN;.;.	T	352;45;30;304	.	ENSP00000302547:I45T	I	-	2	0	TTLL6	44223908	1.000000	0.71417	0.849000	0.33467	0.363000	0.29612	8.910000	0.92685	2.326000	0.78906	0.533000	0.62120	ATA	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346939.3		-	ENST00000393382.3	Missense_Mutation	SNP	17 : 46868909 - 46868909 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	411	89
SEC24C	9632	broad.mit.edu	37	10	75528646	75528646	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75528646C>T	ENST00000339365.2	+	17	2422	c.2260C>T	c.(2260-2262)Cgg>Tgg	p.R754W	SEC24C_ENST00000345254.4_Missense_Mutation_p.R754W|SEC24C_ENST00000411652.2_Missense_Mutation_p.R635W|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000535742.1_Missense_Mutation_p.R2W|SEC24C_ENST00000540668.1_Missense_Mutation_p.R2W	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	754					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TGCTGTGATGCGGGTCCGGAC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	139	151			NA	NA	10		NA											NA				75528646		2203	4300	6503	SO:0001583	missense			D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986	9632	9632			10705	protein-coding gene	gene with protein product		607185	SEC24 (S. cerevisiae) related gene family, member C, SEC24 family, member C (S. cerevisiae)		NA	10214955, 7584044	Standard		NM_004922	NA	Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.2260C>T	10.37:g.75528646C>T	ENSP00000343405:p.Arg754Trp	NA	Q8WV25	37	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901965	0.72754	.	.	ENSG00000176986	ENST00000535742;ENST00000345254;ENST00000540668;ENST00000339365;ENST00000411652	T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35	5.72	3.72	0.42706	Sec23/Sec24 beta-sandwich (1);	0.000000	0.85682	D	0.000000	T	0.60715	0.2290	M	0.90145	3.09	0.80722	D	1	D;D;D	0.67145	0.991;0.994;0.996	P;P;P	0.59115	0.593;0.769;0.852	T	0.70741	-0.4789	10	0.87932	D	0	-8.8039	12.4733	0.55799	0.5246:0.4754:0.0:0.0	.	635;754;754	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	W	2;754;2;754;635	ENSP00000446174:R2W;ENSP00000321845:R754W;ENSP00000445023:R2W;ENSP00000343405:R754W;ENSP00000402913:R635W	ENSP00000343405:R754W	R	+	1	2	SEC24C	75198652	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.691000	0.54720	1.382000	0.46385	0.467000	0.42956	CGG	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048679.1		+	ENST00000339365.2	Missense_Mutation	SNP	10 : 75528646 - 75528646 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	286	26
PROS1	5627	broad.mit.edu	37	3	93617301	93617301	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:93617301C>A	ENST00000394236.3	-	8	1156	c.840G>T	c.(838-840)aaG>aaT	p.K280N	PROS1_ENST00000407433.1_Missense_Mutation_p.K149N	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	280	EGF-like 4; calcium-binding (Potential).				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CCTCACAACTCTTCTGATCTT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	93	95			NA	NA	3		NA											NA				93617301		2203	4300	6503	SO:0001583	missense				CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500	5627	5627			9456	protein-coding gene	gene with protein product		176880		PROS	NA	214811, 1833851	Standard	NM_000313	NM_000313	NA	Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.840G>T	3.37:g.93617301C>A	ENSP00000377783:p.Lys280Asn	NA	A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	37	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	8.061	0.768117	0.15983	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.78481	-1.18;-1.18	4.26	3.38	0.38709	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.340285	0.29822	N	0.011111	T	0.57446	0.2054	N	0.17872	0.535	0.33922	D	0.641007	B	0.33694	0.421	B	0.35470	0.203	T	0.58239	-0.7671	10	0.10377	T	0.69	.	5.791	0.18361	0.0:0.6646:0.1611:0.1743	.	280	P07225	PROS_HUMAN	N	280;149	ENSP00000377783:K280N;ENSP00000385794:K149N	ENSP00000377783:K280N	K	-	3	2	PROS1	95099991	0.262000	0.24073	1.000000	0.80357	0.841000	0.47740	0.917000	0.28665	1.150000	0.42419	0.585000	0.79938	AAG	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317762.1		-	ENST00000394236.3	Missense_Mutation	SNP	3 : 93617301 - 93617301 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	350	68
LIPH	200879	broad.mit.edu	37	3	185232288	185232288	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185232288A>C	ENST00000424591.2	-	7	988	c.902T>G	c.(901-903)aTt>aGt	p.I301S	LIPH_ENST00000296252.4_Missense_Mutation_p.I335S			Q8WWY8	LIPH_HUMAN	lipase, member H	335					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CCATGTTATAATATCCACAAA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													230	202	211			NA	NA	3		NA											NA				185232288		2203	4299	6502	SO:0001583	missense			AY093498	CCDS3272.1	3q27	2012-07-31			ENSG00000163898	ENSG00000163898	200879	200879			18483	protein-coding gene	gene with protein product		607365			NA	12213196, 12063250	Standard		XM_006713529	NA	Approved	mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR	uc003fpm.3	Q8WWY8	OTTHUMG00000156657	ENST00000424591.2:c.902T>G	3.37:g.185232288A>C	ENSP00000396384:p.Ile301Ser	NA	A2IBA7|Q8TEC7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.40|12.40	1.927515|1.927515	0.34002|0.34002	.|.	.|.	ENSG00000163898|ENSG00000163898	ENST00000296252;ENST00000424591|ENST00000435679	D;D|.	0.90504|.	-2.68;-2.58|.	4.87|4.87	4.87|4.87	0.63330|0.63330	.|.	0.170455|.	0.53938|.	D|.	0.000046|.	T|T	0.64011|0.64011	0.2560|0.2560	M|M	0.72894|0.72894	2.215|2.215	0.32274|0.32274	N|N	0.568493|0.568493	D;D|.	0.63880|.	0.993;0.957|.	P;P|.	0.55455|.	0.776;0.71|.	T|T	0.71820|0.71820	-0.4477|-0.4477	10|5	0.87932|.	D|.	0|.	-13.7778|-13.7778	13.4427|13.4427	0.61123|0.61123	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	301;335|.	A2IBA6;Q8WWY8|.	.;LIPH_HUMAN|.	S|V	335;301|13	ENSP00000296252:I335S;ENSP00000396384:I301S|.	ENSP00000296252:I335S|.	I|L	-|-	2|1	0|2	LIPH|LIPH	186714982|186714982	0.994000|0.994000	0.37717|0.37717	0.969000|0.969000	0.41365|0.41365	0.254000|0.254000	0.26022|0.26022	6.868000|6.868000	0.75516|0.75516	2.044000|2.044000	0.60594|0.60594	0.379000|0.379000	0.24179|0.24179	ATT|TTA	LIPH-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000345154.1		-	ENST00000424591.2	Missense_Mutation	SNP	3 : 185232288 - 185232288 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	497	105
FAM91A1	157769	broad.mit.edu	37	8	124787488	124787488	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124787488G>A	ENST00000334705.7	+	3	505	c.259G>A	c.(259-261)Gtg>Atg	p.V87M	FAM91A1_ENST00000521166.1_Missense_Mutation_p.V87M	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	87										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			GGATATTATGGTGAAAGGCTT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	121	124			NA	NA	8		NA											NA				124787488		1953	4144	6097	SO:0001583	missense			AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853	157769	157769			26306	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_144963	XM_005250806	NA	Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.259G>A	8.37:g.124787488G>A	ENSP00000335082:p.Val87Met	NA	Q658T5|Q8TE89	37	CCDS6346.2	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593471	0.86953	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	T;T	0.53206	0.63;1.21	5.33	5.33	0.75918	.	0.000000	0.64402	U	0.000001	T	0.72137	0.3423	M	0.80982	2.52	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.75958	-0.3134	10	0.72032	D	0.01	.	19.0221	0.92919	0.0:0.0:1.0:0.0	.	87;87	E7ER68;Q658Y4	.;F91A1_HUMAN	M	87	ENSP00000429491:V87M;ENSP00000335082:V87M	ENSP00000335082:V87M	V	+	1	0	FAM91A1	124856669	1.000000	0.71417	0.999000	0.59377	0.737000	0.42083	9.655000	0.98512	2.495000	0.84180	0.655000	0.94253	GTG	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256607.1		+	ENST00000334705.7	Missense_Mutation	SNP	8 : 124787488 - 124787488 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	52
UHRF1BP1	54887	broad.mit.edu	37	6	34789517	34789517	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34789517G>T	ENST00000192788.5	+	2	303	c.132G>T	c.(130-132)gaG>gaT	p.E44D	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.E44D	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	44										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TGGATGAAGAGGTTCTACAGA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	84	84			NA	NA	6		NA											NA				34789517		1954	4155	6109	SO:0001583	missense			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060	54887	54887			21216	protein-coding gene	gene with protein product			chromosome 6 open reading frame 107	C6orf107	NA		Standard	NM_017754	NM_017754	NA	Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.132G>T	6.37:g.34789517G>T	ENSP00000192788:p.Glu44Asp	NA	Q9NXE0	37	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414584	0.83449	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	D;D	0.82526	-1.62;-1.62	5.79	2.01	0.26516	.	0.059459	0.64402	D	0.000003	T	0.81791	0.4897	L	0.48642	1.525	0.50632	D	0.999881	D	0.89917	1.0	D	0.87578	0.998	T	0.81116	-0.1079	10	0.51188	T	0.08	-24.7211	10.1509	0.42794	0.3296:0.0:0.6704:0.0	.	44	Q6BDS2	URFB1_HUMAN	D	44	ENSP00000192788:E44D;ENSP00000400628:E44D	ENSP00000192788:E44D	E	+	3	2	UHRF1BP1	34897495	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.503000	0.45407	0.370000	0.24538	0.557000	0.71058	GAG	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040260.1		+	ENST00000192788.5	Missense_Mutation	SNP	6 : 34789517 - 34789517 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	360	30
ADARB2	105	broad.mit.edu	37	10	1405926	1405926	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1405926G>A	ENST00000381312.1	-	3	699	c.374C>T	c.(373-375)gCg>gTg	p.A125V		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	125	DRBM 1.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GTTCTTGGGCGCCACCGACCA	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	27	26			NA	NA	10		NA											NA				1405926		2203	4298	6501	SO:0001583	missense			AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	105	105	3.5.-.-		227	protein-coding gene	gene with protein product	RED2 homolog (rat)	602065	adenosine deaminase, RNA-specific, B2 (RED2 homolog rat), adenosine deaminase, RNA-specific, B2		NA	9272162, 10836796	Standard	NM_018702	NM_018702	NA	Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.374C>T	10.37:g.1405926G>A	ENSP00000370713:p.Ala125Val	NA	B2RPJ5|Q5VUT6	37	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	g	16.02	3.005300	0.54254	.	.	ENSG00000185736	ENST00000381312	T	0.23147	1.92	4.82	4.82	0.62117	Double-stranded RNA-binding (1);	0.464205	0.25919	N	0.027444	T	0.15349	0.0370	N	0.08118	0	0.80722	D	1	B	0.30542	0.284	B	0.26969	0.075	T	0.09015	-1.0694	10	0.36615	T	0.2	-13.7546	17.9271	0.88987	0.0:0.0:1.0:0.0	.	125	Q9NS39	RED2_HUMAN	V	125	ENSP00000370713:A125V	ENSP00000370713:A125V	A	-	2	0	ADARB2	1395926	0.999000	0.42202	0.778000	0.31720	0.962000	0.63368	6.627000	0.74258	2.210000	0.71456	0.558000	0.71614	GCG	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046426.1		-	ENST00000381312.1	Missense_Mutation	SNP	10 : 1405926 - 1405926 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	254	75
MED12L	116931	broad.mit.edu	37	3	150877688	150877688	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150877688T>C	ENST00000474524.1	+	7	945	c.907T>C	c.(907-909)Tcc>Ccc	p.S303P	MED12L_ENST00000309237.4_Missense_Mutation_p.S303P|MED12L_ENST00000422248.2_Missense_Mutation_p.S303P|MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	303					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCGGCGTCTTTCCTTGCTGCT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	168	168			NA	NA	3		NA											NA				150877688		2203	4300	6503	SO:0001583	missense			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893	116931	116931			16050	protein-coding gene	gene with protein product		611318	mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like		NA	11524702	Standard	NM_053002	XM_006713487	NA	Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.907T>C	3.37:g.150877688T>C	ENSP00000417235:p.Ser303Pro	NA	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	37	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	T	18.12	3.552794	0.65425	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524	T;T;T	0.34859	1.34;1.34;1.34	5.41	4.34	0.51931	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.195681	0.44902	D	0.000420	T	0.36936	0.0985	L	0.52573	1.65	0.80722	D	1	B;B;B	0.30361	0.157;0.039;0.277	B;B;B	0.36534	0.14;0.086;0.227	T	0.26744	-1.0094	10	0.87932	D	0	-8.2762	11.1394	0.48394	0.0:0.0:0.4103:0.5897	.	303;303;303	Q86YW9;Q86YW9-2;Q86YW9-3	MD12L_HUMAN;.;.	P	303	ENSP00000403308:S303P;ENSP00000310760:S303P;ENSP00000417235:S303P	ENSP00000310760:S303P	S	+	1	0	MED12L	152360378	0.991000	0.36638	0.956000	0.39512	0.991000	0.79684	2.493000	0.45320	1.014000	0.39417	0.459000	0.35465	TCC	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357707.2		+	ENST00000474524.1	Missense_Mutation	SNP	3 : 150877688 - 150877688 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1134	220
CLN6	54982	broad.mit.edu	37	15	68500697	68500697	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:68500697G>A	ENST00000249806.5	-	7	874	c.717C>T	c.(715-717)ttC>ttT	p.F239F	RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000566347.1_Silent_p.F176F|CLN6_ENST00000538696.1_Silent_p.F271F|CLN6_ENST00000418702.2_Silent_p.F110F|CLN6_ENST00000564752.1_3'UTR|CLN6_ENST00000565471.1_Silent_p.F86F	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	239					cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCAGCATGGCGAAGAAGGTGA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	64	68			NA	NA	15		NA											NA				68500697		2200	4298	6498	SO:0001819	synonymous_variant			AK000568	CCDS10227.1	15q23	2014-09-17			ENSG00000128973	ENSG00000128973	54982	54982			2077	protein-coding gene	gene with protein product		606725			NA	9097964, 11727201	Standard	NM_017882	NM_017882	NA	Approved	FLJ20561, HsT18960, nclf	uc002arf.3	Q9NWW5	OTTHUMG00000133286	ENST00000249806.5:c.717C>T	15.37:g.68500697G>A		NA	A8K560|Q6IAB1|Q96SR0	37	CCDS10227.1																																																																																			CLN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257066.1		-	ENST00000249806.5	Silent	SNP	15 : 68500697 - 68500697 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	393	60
EFHC1	114327	broad.mit.edu	37	6	52354937	52354937	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52354937G>T	ENST00000371068.5	+	10	1743		c.e10-1		EFHC1_ENST00000538167.1_Splice_Site|EFHC1_ENST00000433625.2_Splice_Site	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	NA						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					TTTCTCTACAGCAAGCAAACT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	63	65			NA	NA	6		NA											NA				52354937		2203	4300	6503	SO:0001630	splice_region_variant			AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093	114327	114327		EF-hand domain containing	16406	protein-coding gene	gene with protein product	myoclonin-1	608815	epilepsy, juvenile myoclonic 1	EJM1, EJM	NA	15258581	Standard	NM_018100	NM_018100	NA	Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.1641-1G>T	6.37:g.52354937G>T		NA	Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	37	CCDS4942.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692250	0.68271	.	.	ENSG00000096093	ENST00000371068;ENST00000433625;ENST00000538167	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.829	0.85939	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EFHC1	52462896	0.996000	0.38824	0.997000	0.53966	0.884000	0.51177	4.760000	0.62235	2.833000	0.97629	0.650000	0.86243	.	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040905.2	Intron	+	ENST00000371068.5	Splice_Site	SNP	6 : 52354937 - 52354937 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	217	32
TCERG1	10915	broad.mit.edu	37	5	145843122	145843122	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145843122A>G	ENST00000296702.5	+	5	939	c.901A>G	c.(901-903)Aca>Gca	p.T301A	TCERG1_ENST00000394421.2_Missense_Mutation_p.T301A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	301	Thr-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCACCCACAACACAAGATCA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													191	189	190			NA	NA	5		NA											NA				145843122		2203	4300	6503	SO:0001583	missense			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649	10915	10915			15630	protein-coding gene	gene with protein product	transcription factor CA150, co-activator of 150 kDa, TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD, TATA box-binding protein-associated factor 2S	605409	TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD	TAF2S	NA	9315662, 11003711	Standard	NM_001040006	XM_005268365	NA	Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.901A>G	5.37:g.145843122A>G	ENSP00000296702:p.Thr301Ala	NA	Q2NKN2|Q59EA1	37	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	A	13.30	2.196428	0.38806	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.28895	1.59;1.59	5.39	5.39	0.77823	.	0.158654	0.47093	D	0.000244	T	0.18257	0.0438	L	0.27053	0.805	0.33838	D	0.631074	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.19353	-1.0308	10	0.07325	T	0.83	-7.9798	9.8517	0.41061	0.9233:0.0:0.0767:0.0	.	301;301;301	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	A	301	ENSP00000296702:T301A;ENSP00000377943:T301A	ENSP00000296702:T301A	T	+	1	0	TCERG1	145823315	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.185000	0.58330	2.027000	0.59764	0.460000	0.39030	ACA	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251886.1		+	ENST00000296702.5	Missense_Mutation	SNP	5 : 145843122 - 145843122 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1105	167
PBX1	5087	broad.mit.edu	37	1	164781364	164781364	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:164781364G>A	ENST00000559240.1	+	5	837				PBX1_ENST00000560641.1_Silent_p.S220S|PBX1_ENST00000420696.2_Silent_p.S325S|PBX1_ENST00000540236.1_Silent_p.S325S|PBX1_ENST00000540246.1_Silent_p.S220S|PBX1_ENST00000401534.1_Silent_p.S325S|PBX1_ENST00000367897.1_Silent_p.S325S			P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	NA					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						AAGCTAACTCGCCCTCAACTC	0.443		NA	T	TCF3, EWSR1	pre B-ALL, myoepithelioma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1q23	5087	pre-B-cell leukemia transcription factor 1		L, M	0													105	83	91			NA	NA	1		NA											NA				164781364		2203	4300	6503	SO:0001627	intron_variant			M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630	5087	5087		Homeoboxes / TALE class	8632	protein-coding gene	gene with protein product		176310	pre-B-cell leukemia transcription factor 1		NA		Standard	NM_002585	NM_002585	NA	Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000559240.1:c.837+4450G>A	1.37:g.164781364G>A		NA	Q5T488	37	CCDS1246.1																																																																																			PBX1-012	NOVEL	not_organism_supported|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417688.1		+	ENST00000559240.1	Intron	SNP	1 : 164781364 - 164781364 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	259	79
ZDBF2	57683	broad.mit.edu	37	2	207172649	207172649	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207172649G>T	ENST00000374423.3	+	5	3783	c.3397G>T	c.(3397-3399)Gta>Tta	p.V1133L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1133							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCAACCCAAAGTAGCTATTAA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	54	55			NA	NA	2		NA											NA				207172649		1857	4086	5943	SO:0001583	missense			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186	57683	57683		Zinc fingers, DBF-type	29313	protein-coding gene	gene with protein product					NA	10997877	Standard	NM_020923	XM_005246711	NA	Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.3397G>T	2.37:g.207172649G>T	ENSP00000363545:p.Val1133Leu	NA	Q6ZNP7|Q6ZSN8	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	7.766	0.706449	0.15239	.	.	ENSG00000204186	ENST00000374423	T	0.46819	0.86	4.25	-0.683	0.11335	.	.	.	.	.	T	0.25269	0.0614	N	0.24115	0.695	0.09310	N	1	B	0.25235	0.121	B	0.17722	0.019	T	0.19257	-1.0311	9	0.16896	T	0.51	.	4.1078	0.10045	0.416:0.1852:0.3989:0.0	.	1133	Q9HCK1	ZDBF2_HUMAN	L	1133	ENSP00000363545:V1133L	ENSP00000363545:V1133L	V	+	1	0	ZDBF2	206880894	0.006000	0.16342	0.000000	0.03702	0.020000	0.10135	0.088000	0.14979	-0.149000	0.11215	0.650000	0.86243	GTA	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336458.1		+	ENST00000374423.3	Missense_Mutation	SNP	2 : 207172649 - 207172649 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	184	28
ZNF43	7594	broad.mit.edu	37	19	21990912	21990912	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21990912T>A	ENST00000594012.1	-	7	2423	c.1909A>T	c.(1909-1911)Att>Ttt	p.I637F	ZNF43_ENST00000598381.1_Missense_Mutation_p.I637F|ZNF43_ENST00000595461.1_Missense_Mutation_p.I637F|ZNF43_ENST00000354959.4_Missense_Mutation_p.I643F	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	643					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TCAGTGTGAATTATCTTATGT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	46	45			NA	NA	19		NA											NA				21990912		2200	4296	6496	SO:0001583	missense			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521	7594	7594		Zinc fingers, C2H2-type, -	13109	protein-coding gene	gene with protein product		603972	zinc finger protein 39-like 1 (KOX 27), zinc finger protein 43 (HTF6)	ZNF39L1	NA	1711675	Standard	NM_003423	NM_001256649	NA	Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000594012.1:c.1909A>T	19.37:g.21990912T>A	ENSP00000469578:p.Ile637Phe	NA	A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	37	CCDS59367.1	.	.	.	.	.	.	.	.	.	.	t	8.737	0.918085	0.17982	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.18338	2.22	1.21	1.21	0.21127	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30039	0.0752	L	0.54908	1.71	0.29620	N	0.846279	D	0.69078	0.997	D	0.76071	0.987	T	0.11299	-1.0593	9	0.66056	D	0.02	.	4.7412	0.13013	0.277:0.0:0.0:0.723	.	643	P17038	ZNF43_HUMAN	F	642;643	ENSP00000347045:I643F	ENSP00000347045:I643F	I	-	1	0	ZNF43	21782752	0.001000	0.12720	0.050000	0.19076	0.925000	0.55904	0.826000	0.27407	0.808000	0.34231	0.254000	0.18369	ATT	ZNF43-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464250.1		-	ENST00000594012.1	Missense_Mutation	SNP	19 : 21990912 - 21990912 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	321	14
PCSK1	5122	broad.mit.edu	37	5	95761565	95761565	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95761565T>G	ENST00000311106.3	-	3	592	c.355A>C	c.(355-357)Aat>Cat	p.N119H	PCSK1_ENST00000508626.1_Missense_Mutation_p.N72H|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	119					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTGAAGAGATTTAGTGCTGAG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													183	160	168			NA	NA	5		NA											NA				95761565		2203	4300	6503	SO:0001583	missense				CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426	5122	5122			8743	protein-coding gene	gene with protein product	prohormone convertase 3, prohormone convertase 1, neuroendocrine convertase 1, proprotein convertase 1	162150		NEC1	NA	1765368	Standard	NM_000439	NM_000439	NA	Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.355A>C	5.37:g.95761565T>G	ENSP00000308024:p.Asn119His	NA	P78478|Q92532	37	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	T	9.325	1.059137	0.19987	.	.	ENSG00000175426	ENST00000311106;ENST00000508626;ENST00000509190	T;T;T	0.67523	-0.12;-0.27;0.44	5.63	1.59	0.23543	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.178406	0.64402	D	0.000015	T	0.55940	0.1952	L	0.53561	1.675	0.31961	N	0.608354	B	0.06786	0.001	B	0.06405	0.002	T	0.54516	-0.8282	10	0.20519	T	0.43	-13.2118	10.1792	0.42957	0.0:0.2174:0.0:0.7826	.	119	P29120	NEC1_HUMAN	H	119;72;119	ENSP00000308024:N119H;ENSP00000421600:N72H;ENSP00000427294:N119H	ENSP00000308024:N119H	N	-	1	0	PCSK1	95787321	1.000000	0.71417	0.825000	0.32803	0.590000	0.36582	3.129000	0.50500	0.403000	0.25479	0.533000	0.62120	AAT	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000242851.1		-	ENST00000311106.3	Missense_Mutation	SNP	5 : 95761565 - 95761565 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	61
EML5	161436	broad.mit.edu	37	14	89171223	89171223	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89171223G>A	ENST00000554922.1	-	13	2280	c.2032C>T	c.(2032-2034)Cga>Tga	p.R678*	EML5_ENST00000380664.5_Nonsense_Mutation_p.R678*|EML5_ENST00000352093.5_Nonsense_Mutation_p.R678*	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	678						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AAGTGTAATCGAATACTATTT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	131	135			NA	NA	14		NA											NA				89171223		1813	4074	5887	SO:0001587	stop_gained			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521	161436	161436		WD repeat domain containing	18197	protein-coding gene	gene with protein product					NA		Standard		NM_183387	NA	Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000554922.1:c.2032C>T	14.37:g.89171223G>A	ENSP00000451998:p.Arg678*	NA	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	37	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	G	42	9.219840	0.99105	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	.	.	.	5.04	5.04	0.67666	.	0.243309	0.32624	N	0.005856	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-7.7002	13.3525	0.60609	0.0:0.0:0.8037:0.1963	.	.	.	.	X	678	.	ENSP00000298315:R678X	R	-	1	2	EML5	88240976	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	4.033000	0.57282	2.615000	0.88500	0.557000	0.71058	CGA	EML5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410488.2		-	ENST00000554922.1	Nonsense_Mutation	SNP	14 : 89171223 - 89171223 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	271	43
SSTR1	6751	broad.mit.edu	37	14	38679130	38679130	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38679130T>C	ENST00000267377.2	+	3	1153	c.536T>C	c.(535-537)cTg>cCg	p.L179P		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	179					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GTAGTAAACCTGGGCGTGTGG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	77	77			NA	NA	14		NA											NA				38679130		2203	4300	6503	SO:0001583	missense				CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874	NA	6751		GPCR / Class A : Somatostatin receptors	11330	protein-coding gene	gene with protein product		182451			NA	8449518	Standard		NM_001049	NA	Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.536T>C	14.37:g.38679130T>C	ENSP00000267377:p.Leu179Pro	NA		37	CCDS9666.1	.	.	.	.	.	.	.	.	.	.	T	17.36	3.370844	0.61624	.	.	ENSG00000139874	ENST00000267377	T	0.42513	0.97	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000320	T	0.61299	0.2336	M	0.78344	2.41	0.80722	D	1	D	0.54207	0.965	P	0.60886	0.88	T	0.64449	-0.6405	10	0.48119	T	0.1	.	13.7174	0.62705	0.0:0.0:0.0:1.0	.	179	P30872	SSR1_HUMAN	P	179	ENSP00000267377:L179P	ENSP00000267377:L179P	L	+	2	0	SSTR1	37748881	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.923000	0.56469	2.034000	0.60081	0.459000	0.35465	CTG	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409930.2		+	ENST00000267377.2	Missense_Mutation	SNP	14 : 38679130 - 38679130 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	402	79
NUTM1	256646	broad.mit.edu	37	15	34640500	34640500	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34640500C>T	ENST00000537011.1	+	3	813	c.431C>T	c.(430-432)tCg>tTg	p.S144L	NUTM1_ENST00000438749.3_Missense_Mutation_p.S134L|NUTM1_ENST00000333756.4_Missense_Mutation_p.S116L	NM_001284292.1	NP_001271221.1			NUT midline carcinoma, family member 1	NA											NA						GCCCTCAATTCGACTGCCCCG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	54	55			NA	NA	15		NA											NA				34640500		2201	4298	6499	SO:0001583	missense			AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507	256646	256646			29919	protein-coding gene	gene with protein product	nuclear protein in testis	608963	chromosome 15 open reading frame 55	C15orf55	NA	12543779	Standard	NM_175741	NM_175741	NA	Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000537011.1:c.431C>T	15.37:g.34640500C>T	ENSP00000444896:p.Ser144Leu	NA		37		.	.	.	.	.	.	.	.	.	.	C	11.47	1.648370	0.29336	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000354999;ENST00000333756	T;T;T	0.21932	1.98;1.98;1.98	5.69	4.78	0.61160	Nuclear Testis  protein, N-terminal (1);	0.233256	0.31221	N	0.008030	T	0.10551	0.0258	N	0.08118	0	0.22081	N	0.999373	B;B;B	0.31227	0.223;0.314;0.223	B;B;B	0.22753	0.041;0.024;0.028	T	0.18085	-1.0348	10	0.35671	T	0.21	.	12.7825	0.57485	0.0:0.1677:0.8323:0.0	.	134;144;116	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	L	144;134;116;116	ENSP00000444896:S144L;ENSP00000407031:S134L;ENSP00000329448:S116L	ENSP00000329448:S116L	S	+	2	0	C15orf55	32427792	1.000000	0.71417	0.392000	0.26245	0.480000	0.33159	3.191000	0.50981	1.414000	0.47017	-0.147000	0.13772	TCG	NUTM1-001	PUTATIVE	downstream_ATG|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000418024.1		+	ENST00000537011.1	Missense_Mutation	SNP	15 : 34640500 - 34640500 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	362	57
ATP2B1	490	broad.mit.edu	37	12	90049503	90049503	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:90049503C>T	ENST00000428670.3	-	2	617	c.161G>A	c.(160-162)gGa>gAa	p.G54E	ATP2B1_ENST00000359142.3_Missense_Mutation_p.G54E|ATP2B1_ENST00000348959.3_Missense_Mutation_p.G54E|ATP2B1_ENST00000261173.2_Missense_Mutation_p.G54E			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	54					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						ATAGACATCTCCATAGCTTTC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	78	79			NA	NA	12		NA											NA				90049503		2203	4300	6503	SO:0001583	missense			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	490	490	3.6.3.8	ATPases / P-type	814	protein-coding gene	gene with protein product	plasma membrane calcium-transporting ATPase 1	108731			NA	1674727	Standard	NM_001682	NM_001682	NA	Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.161G>A	12.37:g.90049503C>T	ENSP00000392043:p.Gly54Glu	NA	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	37	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152498	0.78001	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000551310	T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23	5.48	5.48	0.80851	.	0.052038	0.85682	D	0.000000	D	0.87533	0.6201	M	0.89534	3.04	0.80722	D	1	B;P	0.34815	0.046;0.47	B;P	0.46172	0.027;0.506	D	0.86701	0.1929	9	.	.	.	0.5749	19.7147	0.96110	0.0:1.0:0.0:0.0	.	54;54	P20020-3;P20020-2	.;.	E	54	ENSP00000261173:G54E;ENSP00000343599:G54E;ENSP00000352054:G54E;ENSP00000392043:G54E	.	G	-	2	0	ATP2B1	88573634	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.577000	0.60922	2.732000	0.93576	0.591000	0.81541	GGA	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406653.1		-	ENST00000428670.3	Missense_Mutation	SNP	12 : 90049503 - 90049503 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	59
BARX2	8538	broad.mit.edu	37	11	129321161	129321161	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:129321161A>G	ENST00000281437.4	+	4	800	c.704A>G	c.(703-705)gAg>gGg	p.E235G	BARX2_ENST00000531946.1_Missense_Mutation_p.E113G|BARX2_ENST00000526127.1_Missense_Mutation_p.E90G	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	235										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		GAGCAGCTGGAGCCCTCTCAG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	62	64			NA	NA	11		NA											NA				129321161		2201	4297	6498	SO:0001583	missense			AF031924	CCDS8481.1	11q24.3	2011-06-20	2007-07-09		ENSG00000043039	ENSG00000043039	8538	8538		Homeoboxes / ANTP class : NKL subclass	956	protein-coding gene	gene with protein product		604823	BarH-like homeobox 2		NA	10644443	Standard	NM_003658	NM_003658	NA	Approved		uc001qfc.4	Q9UMQ3	OTTHUMG00000165776	ENST00000281437.4:c.704A>G	11.37:g.129321161A>G	ENSP00000281437:p.Glu235Gly	NA	O43518|Q6NT51	37	CCDS8481.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.181217	0.38511	.	.	ENSG00000043039	ENST00000281437;ENST00000526127;ENST00000531946	D;D;D	0.90504	-2.68;-2.32;-2.3	5.51	-1.45	0.08828	.	0.968359	0.08586	N	0.923773	T	0.79215	0.4408	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.61840	-0.6980	10	0.30078	T	0.28	.	4.3094	0.10964	0.4623:0.3558:0.0668:0.1151	.	235	Q9UMQ3	BARX2_HUMAN	G	235;90;113	ENSP00000281437:E235G;ENSP00000451113:E90G;ENSP00000450418:E113G	ENSP00000281437:E235G	E	+	2	0	BARX2	128826371	0.008000	0.16893	0.000000	0.03702	0.013000	0.08279	1.171000	0.31896	-0.552000	0.06167	0.533000	0.62120	GAG	BARX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386153.1		+	ENST00000281437.4	Missense_Mutation	SNP	11 : 129321161 - 129321161 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	418	18
ATRNL1	26033	broad.mit.edu	37	10	117024714	117024714	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:117024714G>T	ENST00000355044.3	+	11	1858	c.1732G>T	c.(1732-1734)Gat>Tat	p.D578Y		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	578						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCTTCATAGAGATGTCAACAG	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	118	117			NA	NA	10		NA											NA				117024714		2203	4297	6500	SO:0001583	missense			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518	26033	26033			29063	protein-coding gene	gene with protein product		612869			NA	9628581	Standard	XM_049349	NM_001276282	NA	Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.1732G>T	10.37:g.117024714G>T	ENSP00000347152:p.Asp578Tyr	NA	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	37	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123123	0.77436	.	.	ENSG00000107518	ENST00000355044	T	0.15139	2.45	4.69	4.69	0.59074	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.48241	0.1489	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.57528	-0.7796	10	0.72032	D	0.01	-26.3301	17.974	0.89121	0.0:0.0:1.0:0.0	.	578	Q5VV63	ATRN1_HUMAN	Y	578	ENSP00000347152:D578Y	ENSP00000347152:D578Y	D	+	1	0	ATRNL1	117014704	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.198000	0.94994	2.307000	0.77673	0.561000	0.74099	GAT	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050507.3		+	ENST00000355044.3	Missense_Mutation	SNP	10 : 117024714 - 117024714 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	478	95
TRIM32	22954	broad.mit.edu	37	9	119461183	119461183	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119461183G>A	ENST00000450136.1	+	2	1323	c.1162G>A	c.(1162-1164)Gct>Act	p.A388T	TRIM32_ENST00000373983.2_Missense_Mutation_p.A388T|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000313400.4_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	388					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						AGTACTAGTCGCTGACCGTGG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(92;212 1916 19711 26951)							NA				0													79	80	80			NA	NA	9		NA											NA				119461183		2203	4300	6503	SO:0001583	missense			U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401	22954	22954		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	16380	protein-coding gene	gene with protein product		602290	limb girdle muscular dystrophy 2H (autosomal recessive), tripartite motif-containing 32	LGMD2H	NA	11331580, 7778269, 16606853	Standard	NM_012210	NM_001099679	NA	Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.1162G>A	9.37:g.119461183G>A	ENSP00000408292:p.Ala388Thr	NA	Q9NQP8	37	CCDS6817.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076522	0.76415	.	.	ENSG00000119401	ENST00000450136;ENST00000373983	T;T	0.75154	-0.91;-0.91	5.32	5.32	0.75619	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.83216	0.5206	L	0.49256	1.55	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.81829	-0.0753	9	.	.	.	-10.9153	19.0043	0.92844	0.0:0.0:1.0:0.0	.	388	Q13049	TRI32_HUMAN	T	388	ENSP00000408292:A388T;ENSP00000363095:A388T	.	A	+	1	0	TRIM32	118501004	1.000000	0.71417	0.993000	0.49108	0.840000	0.47671	9.434000	0.97515	2.481000	0.83766	0.650000	0.86243	GCT	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055466.2		+	ENST00000450136.1	Missense_Mutation	SNP	9 : 119461183 - 119461183 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	517	114
SRRM4	84530	broad.mit.edu	37	12	119592129	119592129	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119592129G>A	ENST00000267260.4	+	12	1861	c.1473G>A	c.(1471-1473)tcG>tcA	p.S491S		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	491	Arg-rich.|Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GGTCCTACTCGCCTATGAGAA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	21	20			NA	NA	12		NA											NA				119592129		1856	4093	5949	SO:0001819	synonymous_variant			AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767	84530	84530			29389	protein-coding gene	gene with protein product	neural-specific SR-related protein of 100 kDa	613103	KIAA1853	KIAA1853	NA	19737518	Standard	NM_194286	NM_194286	NA	Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1473G>A	12.37:g.119592129G>A		NA	A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	37	CCDS44994.1																																																																																			SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401640.2		+	ENST00000267260.4	Silent	SNP	12 : 119592129 - 119592129 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	140	23
DNAH11	8701	broad.mit.edu	37	7	21678582	21678582	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21678582G>A	ENST00000409508.3	+	28	4874	c.4843G>A	c.(4843-4845)Gct>Act	p.A1615T	DNAH11_ENST00000328843.6_Missense_Mutation_p.A1620T	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1620	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAAAGCTCTCGCTGAATACCT	0.393		NA							Kartagener syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	160	161			NA	NA	7		NA											NA				21678582		1861	4093	5954	SO:0001583	missense	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04				8701	8701		Axonemal dyneins	2942	protein-coding gene	gene with protein product	dynein, ciliary, heavy chain 11, dynein, heavy chain beta-like	603339	dynein, axonemal, heavy polypeptide 11		NA	9256245	Standard	NM_003777	NM_001277115	NA	Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.4843G>A	7.37:g.21678582G>A	ENSP00000475939:p.Ala1615Thr	NA	Q9UJ82	37		.	.	.	.	.	.	.	.	.	.	G	6.183	0.401934	0.11696	.	.	ENSG00000105877	ENST00000328843	T	0.60672	0.17	5.78	-1.86	0.07760	Dynein heavy chain, domain-2 (1);	0.275476	0.40302	N	0.001126	T	0.29093	0.0723	.	.	.	0.24518	N	0.994179	B	0.17038	0.02	B	0.19946	0.027	T	0.24977	-1.0145	9	0.08837	T	0.75	.	6.2056	0.20600	0.3011:0.0:0.5032:0.1957	.	1620	Q96DT5	DYH11_HUMAN	T	1620	ENSP00000330671:A1620T	ENSP00000330671:A1620T	A	+	1	0	DNAH11	21645107	0.326000	0.24669	0.004000	0.12327	0.320000	0.28249	0.739000	0.26173	-0.708000	0.05015	-2.201000	0.00304	GCT	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000326582.6		+	ENST00000409508.3	Missense_Mutation	SNP	7 : 21678582 - 21678582 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	548	97
DACT1	51339	broad.mit.edu	37	14	59112077	59112077	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59112077G>A	ENST00000395153.3	+	4	781				DACT1_ENST00000556859.1_Intron|DACT1_ENST00000541264.2_Intron|DACT1_ENST00000335867.4_Missense_Mutation_p.V246I|DACT1_ENST00000555845.1_Intron	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	NA					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TTCCCTTGATGTCATTGCAGA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	147	152			NA	NA	14		NA											NA				59112077		2203	4300	6503	SO:0001627	intron_variant			AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617	51339	51339			17748	protein-coding gene	gene with protein product		607861	dapper homolog 1, antagonist of beta-catenin (xenopus), dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)		NA	11970895	Standard	NM_016651	NM_001079520	NA	Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000395153.3:c.635-10G>A	14.37:g.59112077G>A		NA	Q86TY0	37	CCDS41961.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.153085	0.38021	.	.	ENSG00000165617	ENST00000335867	T	0.44482	0.92	5.71	4.8	0.61643	.	0.288933	0.33438	N	0.004919	T	0.40094	0.1103	M	0.65975	2.015	0.80722	D	1	B	0.28350	0.208	B	0.25759	0.063	T	0.32693	-0.9897	10	0.08179	T	0.78	-18.6973	16.529	0.84353	0.0:0.1309:0.8691:0.0	.	246	Q9NYF0	DACT1_HUMAN	I	246	ENSP00000337439:V246I	ENSP00000337439:V246I	V	+	1	0	DACT1	58181830	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.735000	0.55044	1.382000	0.46385	0.563000	0.77884	GTC	DACT1-002	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276939.2		+	ENST00000395153.3	Intron	SNP	14 : 59112077 - 59112077 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	424	81
SLC44A5	204962	broad.mit.edu	37	1	75683558	75683558	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75683558A>G	ENST00000370855.5	-	18	1730	c.1617T>C	c.(1615-1617)cgT>cgC	p.R539R	SLC44A5_ENST00000535611.1_Silent_p.R409R|SLC44A5_ENST00000370859.3_Silent_p.R539R	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	539						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TACGTTTAAGACGGTGGTCCA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	57	56			NA	NA	1		NA											NA				75683558		2203	4299	6502	SO:0001819	synonymous_variant			BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968	204962	204962		Solute carriers	28524	protein-coding gene	gene with protein product					NA	15715662	Standard	NM_152697	NM_152697	NA	Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1617T>C	1.37:g.75683558A>G		NA	B5MCU3|Q4G0K0|Q8NA44|Q8NB86	37	CCDS667.1																																																																																			SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026921.1		-	ENST00000370855.5	Silent	SNP	1 : 75683558 - 75683558 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	184	29
NYNRIN	57523	broad.mit.edu	37	14	24885464	24885464	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24885464C>T	ENST00000382554.3	+	9	4827	c.4509C>T	c.(4507-4509)ggC>ggT	p.G1503G		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1503					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AACTGTCTGGCTCCTCACCGT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	41	40			NA	NA	14		NA											NA				24885464		2009	4170	6179	SO:0001819	synonymous_variant			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978	57523	57523			20165	protein-coding gene	gene with protein product	Cousin of GIN1		KIAA1305	KIAA1305	NA	19561090, 17114934	Standard		NM_025081	NA	Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.4509C>T	14.37:g.24885464C>T		NA	Q6P153|Q86TR3|Q9HAC4	37	CCDS45090.1																																																																																			NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412939.1		+	ENST00000382554.3	Silent	SNP	14 : 24885464 - 24885464 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	171	29
GLCCI1	113263	broad.mit.edu	37	7	8043574	8043574	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:8043574G>A	ENST00000223145.5	+	2	1051	c.494G>A	c.(493-495)aGt>aAt	p.S165N	RPA3-AS1_ENST00000469183.1_3'UTR|GLCCI1_ENST00000474269.1_3'UTR	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	165										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		CGGACCTCTAGTACAATAAGG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	111	114			NA	NA	7		NA											NA				8043574		2203	4300	6503	SO:0001583	missense			BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415	113263	113263			18713	protein-coding gene	gene with protein product		614283			NA		Standard	NM_138426	NM_138426	NA	Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.494G>A	7.37:g.8043574G>A	ENSP00000223145:p.Ser165Asn	NA	A4D103|Q96FD0	37	CCDS34601.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380708	0.42207	.	.	ENSG00000106415	ENST00000223145;ENST00000414914;ENST00000430798	.	.	.	4.74	0.789	0.18607	.	0.443287	0.25866	N	0.027788	T	0.16428	0.0395	N	0.14661	0.345	0.22354	N	0.999171	B	0.06786	0.001	B	0.08055	0.003	T	0.15925	-1.0420	9	0.22706	T	0.39	-19.5099	5.3351	0.15953	0.3053:0.1403:0.5543:0.0	.	165	Q86VQ1	GLCI1_HUMAN	N	165;53;53	.	ENSP00000223145:S165N	S	+	2	0	GLCCI1	8010099	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	2.488000	0.45276	0.263000	0.21812	0.551000	0.68910	AGT	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324672.1		+	ENST00000223145.5	Missense_Mutation	SNP	7 : 8043574 - 8043574 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	73
SLC22A3	6581	broad.mit.edu	37	6	160858179	160858179	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160858179C>T	ENST00000275300.2	+	7	1376	c.1224C>T	c.(1222-1224)ctC>ctT	p.L408L	SLC22A3_ENST00000392145.1_Silent_p.L408L	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	408						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		GACGACGCCTCCCCTTTGCGG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	153	151			NA	NA	6		NA											NA				160858179		2203	4300	6503	SO:0001819	synonymous_variant			AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477	6581	6581		Solute carriers	10967	protein-coding gene	gene with protein product		604842	solute carrier family 22 (extraneuronal monoamine transporter), member 3		NA	9632645, 9933568	Standard	NM_021977	NM_021977	NA	Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.1224C>T	6.37:g.160858179C>T		NA	Q9UP02	37	CCDS5277.1																																																																																			SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042953.1		+	ENST00000275300.2	Silent	SNP	6 : 160858179 - 160858179 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1175	217
RFX1	5989	broad.mit.edu	37	19	14080949	14080949	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14080949G>A	ENST00000254325.4	-	10	1587	c.1353C>T	c.(1351-1353)ggC>ggT	p.G451G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	451					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.G451G(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GCAGACTCACGCCCTCAGCCG	0.622		NA												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)											62	59	60			NA	NA	19		NA											NA				14080949		2203	4300	6503	SO:0001819	synonymous_variant				CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005	5989	5989			9982	protein-coding gene	gene with protein product	trans-acting regulatory factor 1, enhancer factor C, MHC class II regulatory factor RFX	600006			NA	1505960, 8289803	Standard	NM_002918	NM_002918	NA	Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.1353C>T	19.37:g.14080949G>A		NA		37	CCDS12301.1																																																																																			RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458510.1		-	ENST00000254325.4	Silent	SNP	19 : 14080949 - 14080949 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	459	78
ZNF836	162962	broad.mit.edu	37	19	52658722	52658722	+	Silent	SNP	C	C	T	rs139619574	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52658722C>T	ENST00000322146.8	-	5	2735	c.2214G>A	c.(2212-2214)acG>acA	p.T738T	ZNF836_ENST00000597252.1_Silent_p.T738T|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	738					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCTGATGGTACGTCAGGCCTG	0.418		NA											c	2	9e-04	0.0041	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	9e-04	1	LOWCOV,EXOME	NA	NA	0.006	SNP								NA				0								C		1,4239		0,1,2119	82	85	84		2214	-4.2	0	19	dbSNP_134	84	0,8494		0,0,4247	no	coding-synonymous	ZNF836	NM_001102657.1		0,1,6366	TT,TC,CC	NA	0.0,0.0236,0.0079		738/937	52658722	1,12733	2120	4247	6367	SO:0001819	synonymous_variant			BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267	162962	162962		Zinc fingers, C2H2-type, -	34333	protein-coding gene	gene with protein product					NA		Standard	NM_001102657	NM_001102657	NA	Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.2214G>A	19.37:g.52658722C>T		NA		37	CCDS46162.1																																																																																			ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462456.1		-	ENST00000322146.8	Silent	SNP	19 : 52658722 - 52658722 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	255	26
HELLS	3070	broad.mit.edu	37	10	96351995	96351995	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96351995G>T	ENST00000348459.5	+	16	1882	c.1777G>T	c.(1777-1779)Gaa>Taa	p.E593*	HELLS_ENST00000371332.4_Nonsense_Mutation_p.E639*|HELLS_ENST00000394045.1_Nonsense_Mutation_p.E495*|HELLS_ENST00000239026.6_3'UTR|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000394036.1_3'UTR	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	593					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GATCGATGAAGAATTGGTAAC	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	57	56			NA	NA	10		NA											NA				96351995		2202	4299	6501	SO:0001587	stop_gained			AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969	3070	3070			4861	protein-coding gene	gene with protein product	SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6, proliferation-associated SNF2-like protein	603946			NA	9878251, 10910076	Standard	NM_018063	NM_018063	NA	Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.1777G>T	10.37:g.96351995G>T	ENSP00000239027:p.Glu593*	NA	B2RB41|Q3LID1|Q6I7N7|Q76H76|Q76H77|Q76H78|Q76H79|Q76H80|Q76H81|Q7Z397|Q7Z5X2|Q8N6P4|Q9H4P5	37	CCDS7434.1	.	.	.	.	.	.	.	.	.	.	G	32	5.127452	0.94473	.	.	ENSG00000119969	ENST00000348459;ENST00000394045;ENST00000371332;ENST00000371327	.	.	.	5.45	5.45	0.79879	.	0.160191	0.56097	D	0.000037	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-21.9214	18.2637	0.90044	0.0:0.0:1.0:0.0	.	.	.	.	X	593;495;639;30	.	ENSP00000239027:E593X	E	+	1	0	HELLS	96341985	1.000000	0.71417	1.000000	0.80357	0.354000	0.29330	3.534000	0.53568	2.550000	0.86006	0.563000	0.77884	GAA	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049475.1		+	ENST00000348459.5	Nonsense_Mutation	SNP	10 : 96351995 - 96351995 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	290	50
PKN3	29941	broad.mit.edu	37	9	131482694	131482694	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131482694C>A	ENST00000291906.4	+	22	2872	c.2479C>A	c.(2479-2481)Ctc>Atc	p.L827I		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	827	AGC-kinase C-terminal.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GCAAGCCCTGCTCGCCCGCAC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	108	108			NA	NA	9		NA											NA				131482694		2203	4300	6503	SO:0001583	missense			AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447	29941	29941			17999	protein-coding gene	gene with protein product		610714			NA	10441506	Standard	NM_013355	NM_013355	NA	Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.2479C>A	9.37:g.131482694C>A	ENSP00000291906:p.Leu827Ile	NA	Q9UM03	37	CCDS6908.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154543	0.57259	.	.	ENSG00000160447	ENST00000291906	T	0.25912	1.77	4.97	4.97	0.65823	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	.	.	.	.	T	0.43010	0.1228	L	0.60067	1.865	0.42656	D	0.993462	D	0.69078	0.997	D	0.72625	0.978	T	0.29427	-1.0012	9	0.49607	T	0.09	.	9.3747	0.38275	0.0:0.9017:0.0:0.0983	.	827	Q6P5Z2	PKN3_HUMAN	I	827	ENSP00000291906:L827I	ENSP00000291906:L827I	L	+	1	0	PKN3	130522515	0.997000	0.39634	0.994000	0.49952	0.591000	0.36615	1.211000	0.32382	2.297000	0.77311	0.462000	0.41574	CTC	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054487.1		+	ENST00000291906.4	Missense_Mutation	SNP	9 : 131482694 - 131482694 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	992	173
INTS3	65123	broad.mit.edu	37	1	153730091	153730091	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153730091G>A	ENST00000318967.2	+	10	1569	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	INTS3_ENST00000435409.2_Missense_Mutation_p.R334H|INTS3_ENST00000512605.1_Missense_Mutation_p.R128H|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000456435.1_Missense_Mutation_p.R128H	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	335					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	p.R334H(1)		breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGGTTCCAGCGCCAGTACCTG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											203	181	188			NA	NA	1		NA											NA				153730091		2203	4300	6503	SO:0001583	missense			BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624	65123	65123			26153	protein-coding gene	gene with protein product	sensor of single-strand DNA complex subunit A	611347	chromosome 1 open reading frame 60	C1orf60	NA	16239144	Standard	NM_023015	NM_023015	NA	Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.1001G>A	1.37:g.153730091G>A	ENSP00000318641:p.Arg334His	NA	A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	37	CCDS1052.1	.	.	.	.	.	.	.	.	.	.	G	32	5.113640	0.94339	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.73087	0.3542	M	0.71581	2.175	0.54753	D	0.999984	D;D;D	0.89917	0.999;1.0;0.999	D;D;P	0.78314	0.991;0.957;0.872	T	0.76451	-0.2954	9	0.72032	D	0.01	.	15.2588	0.73606	0.0:0.0:1.0:0.0	.	128;335;334	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	H	334;128;334;128	.	ENSP00000318641:R334H	R	+	2	0	INTS3	151996715	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.815000	0.75242	2.463000	0.83235	0.455000	0.32223	CGC	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090045.2		+	ENST00000318967.2	Missense_Mutation	SNP	1 : 153730091 - 153730091 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	841	64
CTTNBP2	83992	broad.mit.edu	37	7	117368189	117368189	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117368189A>G	ENST00000160373.3	-	17	4100	c.4009T>C	c.(4009-4011)Ttc>Ctc	p.F1337L		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1337										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CAAGACAGGAAATATTTTGGT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	98	96			NA	NA	7		NA											NA				117368189		2203	4300	6503	SO:0001583	missense				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063	83992	83992		Ankyrin repeat domain containing	15679	protein-coding gene	gene with protein product		609772	cortactin binding protein 2	CORTBP2, C7orf8	NA	11707066	Standard	NM_033427	XM_005250635	NA	Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.4009T>C	7.37:g.117368189A>G	ENSP00000160373:p.Phe1337Leu	NA	O43389|Q7LG11|Q9C0A5	37	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	32|32	5.142339|5.142339	0.94560|0.94560	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000160373|ENST00000446636	D|.	0.90444|.	-2.67|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	0.044917|0.044917	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.80681|0.80681	0.4669|0.4669	M|M	0.88105|0.88105	2.93|2.93	0.58432|0.58432	D|D	0.999995|0.999995	D|.	0.76494|.	0.999|.	D|.	0.75484|.	0.986|.	D|D	0.84109|0.84109	0.0400|0.0400	10|6	0.87932|.	D|.	0|.	4.1753|4.1753	15.7672|15.7672	0.78135|0.78135	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1337|.	Q8WZ74|.	CTTB2_HUMAN|.	L|S	1337|824	ENSP00000160373:F1337L|.	ENSP00000160373:F1337L|.	F|F	-|-	1|2	0|0	CTTNBP2|CTTNBP2	117155425|117155425	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	8.395000|8.395000	0.90188|0.90188	2.183000|2.183000	0.69458|0.69458	0.528000|0.528000	0.53228|0.53228	TTC|TTT	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059201.4		-	ENST00000160373.3	Missense_Mutation	SNP	7 : 117368189 - 117368189 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	680	61
GZMK	3003	broad.mit.edu	37	5	54327211	54327211	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54327211T>G	ENST00000231009.2	+	4	453	c.383T>G	c.(382-384)cTc>cGc	p.L128R	CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000609792.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	128	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				GCCGCAAAACTCAATAAACAT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	80	79			NA	NA	5		NA											NA				54327211		2203	4300	6503	SO:0001583	missense			BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088	3003	3003			4711	protein-coding gene	gene with protein product		600784	granzyme K (serine protease, granzyme 3; tryptase II)		NA	7758581	Standard	NM_002104	NM_002104	NA	Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.383T>G	5.37:g.54327211T>G	ENSP00000231009:p.Leu128Arg	NA	B2R563	37	CCDS3964.1	.	.	.	.	.	.	.	.	.	.	T	11.94	1.789054	0.31685	.	.	ENSG00000113088	ENST00000231009	D	0.90133	-2.62	4.78	4.78	0.61160	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.382752	0.24492	N	0.038041	D	0.93449	0.7910	M	0.77313	2.365	0.35020	D	0.75771	P	0.35124	0.485	P	0.48840	0.592	D	0.97186	0.9854	10	0.87932	D	0	.	13.4165	0.60972	0.0:0.0:0.0:1.0	.	128	P49863	GRAK_HUMAN	R	128	ENSP00000231009:L128R	ENSP00000231009:L128R	L	+	2	0	GZMK	54362968	0.010000	0.17322	0.095000	0.20976	0.263000	0.26337	0.943000	0.29030	2.011000	0.59026	0.533000	0.62120	CTC	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214098.1		+	ENST00000231009.2	Missense_Mutation	SNP	5 : 54327211 - 54327211 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	492	85
CAMSAP2	23271	broad.mit.edu	37	1	200819344	200819344	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200819344C>A	ENST00000358823.2	+	11	3717	c.3447C>A	c.(3445-3447)tgC>tgA	p.C1149*	CAMSAP2_ENST00000413307.2_Nonsense_Mutation_p.C1133*|CAMSAP2_ENST00000236925.4_Nonsense_Mutation_p.C1160*	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1160						cytoplasm|microtubule	protein binding				NA						AGAAAGTATGCTGTGGATTCT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	111	107			NA	NA	1		NA											NA				200819344		2197	4296	6493	SO:0001587	stop_gained			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200	23271	23271			29188	protein-coding gene	gene with protein product		613775	calmodulin regulated spectrin-associated protein 1-like 1	CAMSAP1L1	NA	15897902, 19508979	Standard	NM_203459	XM_005245040	NA	Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000358823.2:c.3447C>A	1.37:g.200819344C>A	ENSP00000351684:p.Cys1149*	NA	B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	37	CCDS1404.1	.	.	.	.	.	.	.	.	.	.	C	41	8.604489	0.98881	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	.	.	.	5.62	4.71	0.59529	.	0.039744	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-15.5258	11.5744	0.50854	0.0:0.8452:0.0:0.1548	.	.	.	.	X	1149;1133;1160	.	ENSP00000236925:C1160X	C	+	3	2	CAMSAP1L1	199085967	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.185000	0.50934	1.518000	0.48934	-0.136000	0.14681	TGC	CAMSAP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087034.2		+	ENST00000358823.2	Nonsense_Mutation	SNP	1 : 200819344 - 200819344 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	611	76
C6	729	broad.mit.edu	37	5	41186182	41186182	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41186182A>C	ENST00000263413.3	-	6	980	c.716T>G	c.(715-717)gTc>gGc	p.V239G	C6_ENST00000337836.5_Missense_Mutation_p.V239G|C6_ENST00000475349.1_Intron	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	239	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTCAAAGCCGACATTTTCCAG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	117	121			NA	NA	5		NA											NA				41186182		2203	4300	6503	SO:0001583	missense			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537	729	729		Complement system	1339	protein-coding gene	gene with protein product		217050			NA		Standard		NM_001115131	NA	Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.716T>G	5.37:g.41186182A>C	ENSP00000263413:p.Val239Gly	NA		37	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	A	19.68	3.873182	0.72180	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.61392	0.11;0.11	5.99	5.99	0.97316	Membrane attack complex component/perforin (MACPF) domain (1);	0.218031	0.46758	D	0.000268	T	0.64951	0.2645	M	0.72479	2.2	0.80722	D	1	D	0.58970	0.984	P	0.47470	0.548	T	0.69049	-0.5248	10	0.54805	T	0.06	-16.1571	16.4943	0.84223	1.0:0.0:0.0:0.0	.	239	P13671	CO6_HUMAN	G	239	ENSP00000338861:V239G;ENSP00000263413:V239G	ENSP00000263413:V239G	V	-	2	0	C6	41221939	1.000000	0.71417	0.997000	0.53966	0.705000	0.40729	7.357000	0.79456	2.291000	0.77112	0.533000	0.62120	GTC	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000211592.1		-	ENST00000263413.3	Missense_Mutation	SNP	5 : 41186182 - 41186182 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	235	42
KCNK10	54207	broad.mit.edu	37	14	88652276	88652276	+	Missense_Mutation	SNP	C	C	T	rs144714447		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88652276C>T	ENST00000340700.5	-	7	1671	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	KCNK10_ENST00000319231.5_Missense_Mutation_p.R412H|KCNK10_ENST00000312350.5_Missense_Mutation_p.R412H	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	407					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GGCCTTGAAGCGGCCGGTGTC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	57	61	60		1220,1235,1235	4.8	1	14	dbSNP_134	60	0,8600		0,0,4300	no	missense,missense,missense	KCNK10	NM_021161.4,NM_138317.2,NM_138318.2	29,29,29	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	407/539,412/544,412/544	88652276	1,13005	2203	4300	6503	SO:0001583	missense			AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12					54207	54207		Potassium channels, Voltage-gated ion channels / Potassium channels, Two-P	6273	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 97	605873			NA	10880510, 16382106	Standard	NM_021161	NM_021161	NA	Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.1220G>A	14.37:g.88652276C>T	ENSP00000343104:p.Arg407His	NA	B2RCT3|Q8TDK7|Q8TDK8|Q9HB59	37	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655498	0.47467	2.27E-4	0.0	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	D;D;D	0.91945	-2.93;-2.94;-2.94	5.71	4.82	0.62117	.	0.156145	0.53938	N	0.000041	D	0.87815	0.6272	L	0.43152	1.355	0.45747	D	0.998646	B;B;B	0.15473	0.002;0.013;0.004	B;B;B	0.10450	0.001;0.005;0.002	T	0.82837	-0.0260	10	0.17369	T	0.5	.	13.9924	0.64374	0.0:0.9275:0.0:0.0725	.	407;412;412	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	H	407;412;412	ENSP00000343104:R407H;ENSP00000310568:R412H;ENSP00000312811:R412H	ENSP00000310568:R412H	R	-	2	0	KCNK10	87722029	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	2.954000	0.49113	1.428000	0.47296	0.655000	0.94253	CGC	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410167.1		-	ENST00000340700.5	Missense_Mutation	SNP	14 : 88652276 - 88652276 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	528	104
CYP4F2	8529	broad.mit.edu	37	19	15997079	15997079	+	Missense_Mutation	SNP	C	C	A	rs149428608		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15997079C>A	ENST00000221700.6	-	8	1053	c.958G>T	c.(958-960)Gca>Tca	p.A320S	CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	NA					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCAGCTTCTGCTCTTATGTCC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													207	211	210			NA	NA	19		NA											NA				15997079		2203	4300	6503	SO:0001583	missense			U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115	8529	8529		Cytochrome P450s	2645	protein-coding gene	gene with protein product		604426	cytochrome P450, subfamily IVF, polypeptide 2		NA	8424651, 8026587	Standard	NM_001082	NM_001082	NA	Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.958G>T	19.37:g.15997079C>A	ENSP00000221700:p.Ala320Ser	NA	A8K425|Q16677|Q6NWT4|Q6NWT6|Q9NNZ0|Q9UIU8	37	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	c	17.59	3.427758	0.62733	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	T	0.71934	-0.61	2.73	2.73	0.32206	.	0.000000	0.64402	U	0.000006	T	0.80768	0.4686	M	0.69523	2.12	0.49299	D	0.999777	D	0.76494	0.999	D	0.81914	0.995	T	0.82456	-0.0448	10	0.72032	D	0.01	.	11.1798	0.48620	0.0:1.0:0.0:0.0	.	320	P78329	CP4F2_HUMAN	S	320;171	ENSP00000221700:A320S	ENSP00000221700:A320S	A	-	1	0	CYP4F2	15858079	0.999000	0.42202	0.917000	0.36280	0.680000	0.39746	4.503000	0.60407	1.500000	0.48636	0.313000	0.20887	GCA	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460372.3		-	ENST00000221700.6	Missense_Mutation	SNP	19 : 15997079 - 15997079 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1831	345
KIAA2026	158358	broad.mit.edu	37	9	6007544	6007544	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6007544C>A	ENST00000399933.3	-	1	243	c.244G>T	c.(244-246)Ggc>Tgc	p.G82C	KIAA2026_ENST00000381461.2_Missense_Mutation_p.G82C	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	82										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		ATGCGGTAGCCCTGCTGTAGC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	35	33			NA	NA	9		NA											NA				6007544		2080	4209	6289	SO:0001583	missense			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354	158358	158358			23378	protein-coding gene	gene with protein product					NA		Standard	NM_001017969	NM_001017969	NA	Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.244G>T	9.37:g.6007544C>A	ENSP00000382815:p.Gly82Cys	NA	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	37		.	.	.	.	.	.	.	.	.	.	C	19.04	3.749993	0.69533	.	.	ENSG00000183354	ENST00000399933;ENST00000381461;ENST00000513355	.	.	.	4.24	4.24	0.50183	Bromodomain (1);	.	.	.	.	T	0.53029	0.1771	N	0.12746	0.255	0.41630	D	0.989012	D	0.89917	1.0	D	0.72075	0.976	T	0.54410	-0.8298	8	0.27785	T	0.31	.	15.1706	0.72869	0.0:1.0:0.0:0.0	.	82	Q5HYC2	K2026_HUMAN	C	82	.	ENSP00000370870:G82C	G	-	1	0	KIAA2026	5997544	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.097000	0.64542	2.081000	0.62600	0.491000	0.48974	GGC	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000051652.2		-	ENST00000399933.3	Missense_Mutation	SNP	9 : 6007544 - 6007544 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	207	33
HIST1H2BH	8345	broad.mit.edu	37	6	26252006	26252006	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26252006A>G	ENST00000356350.2	+	1	128	c.128A>G	c.(127-129)tAc>tGc	p.Y43C		NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	43					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						GTATACGTTTACAAGGTGCTG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	138	143			NA	NA	6		NA											NA				26252006		2203	4300	6503	SO:0001583	missense			Z80781	CCDS4601.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000197459	ENSG00000275713	8345	8345		Histones / Replication-dependent	4755	protein-coding gene	gene with protein product		602806	H2B histone family, member J, histone 1, H2bh	H2BFJ	NA	9119399, 12408966	Standard	NM_003524	NM_003524	NA	Approved	H2B/j	uc003nhh.3	Q93079	OTTHUMG00000014447	ENST00000356350.2:c.128A>G	6.37:g.26252006A>G	ENSP00000348706:p.Tyr43Cys	NA	B2R541|Q4VB74	37	CCDS4601.1	.	.	.	.	.	.	.	.	.	.	.	23.3	4.396033	0.83011	.	.	ENSG00000197459	ENST00000356350	T	0.22945	1.93	4.74	4.74	0.60224	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.55609	0.1931	H	0.95712	3.71	0.41038	D	0.985201	D	0.89917	1.0	D	0.80764	0.994	T	0.71056	-0.4703	9	0.87932	D	0	.	14.1186	0.65172	1.0:0.0:0.0:0.0	.	43	Q93079	H2B1H_HUMAN	C	43	ENSP00000348706:Y43C	ENSP00000348706:Y43C	Y	+	2	0	HIST1H2BH	26359985	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	8.981000	0.93465	2.070000	0.61991	0.533000	0.62120	TAC	HIST1H2BH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040110.1		+	ENST00000356350.2	Missense_Mutation	SNP	6 : 26252006 - 26252006 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	994	174
AMTN	401138	broad.mit.edu	37	4	71384505	71384505	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71384505C>T	ENST00000339336.4	+	2	141	c.11C>T	c.(10-12)aCg>aTg	p.T4M	AMTN_ENST00000504451.1_Missense_Mutation_p.T4M	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	4					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			ATGAGGAGTACGATTCTACTG	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	232	215	221		11	-6.8	0	4		221	0,8600		0,0,4300	no	missense	AMTN	NM_212557.2	81	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	benign	4/210	71384505	1,13005	2203	4300	6503	SO:0001583	missense			AY358528	CCDS3542.1, CCDS68716.1	4q13.3	2006-12-12			ENSG00000187689	ENSG00000187689	401138	401138			33188	protein-coding gene	gene with protein product		610912			NA	16304441	Standard	NM_212557	NM_001286731	NA	Approved	UNQ689, RSTI689	uc003hfk.1	Q6UX39	OTTHUMG00000129906	ENST00000339336.4:c.11C>T	4.37:g.71384505C>T	ENSP00000341013:p.Thr4Met	NA	Q0P503|Q0P506	37	CCDS3542.1	.	.	.	.	.	.	.	.	.	.	C	0.141	-1.101948	0.01828	2.27E-4	0.0	ENSG00000187689	ENST00000339336;ENST00000504451	T;T	0.30714	1.52;1.52	5.76	-6.78	0.01721	.	2.215910	0.01532	N	0.018838	T	0.18551	0.0445	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.06405	0.002;0.002	T	0.25257	-1.0137	10	0.29301	T	0.29	15.6161	16.5503	0.84471	0.0:0.3278:0.0:0.6722	.	4;4	Q6UX39-2;Q6UX39	.;AMTN_HUMAN	M	4	ENSP00000341013:T4M;ENSP00000422452:T4M	ENSP00000341013:T4M	T	+	2	0	AMTN	71419094	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-1.921000	0.01569	-2.864000	0.00326	-1.814000	0.00607	ACG	AMTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252157.1		+	ENST00000339336.4	Missense_Mutation	SNP	4 : 71384505 - 71384505 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	624	95
TRPM6	140803	broad.mit.edu	37	9	77377222	77377222	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77377222C>T	ENST00000360774.1	-	26	4602	c.4365G>A	c.(4363-4365)tgG>tgA	p.W1455*	TRPM6_ENST00000449912.2_Nonsense_Mutation_p.W1450*|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.W1450*|TRPM6_ENST00000451710.3_Nonsense_Mutation_p.W1455*|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.W1455*	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1455					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTGAAAATGCCCAGTTTACAT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	110	110			NA	NA	9		NA											NA				77377222		2203	4300	6503	SO:0001587	stop_gained			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121	140803	140803		Voltage-gated ion channels / Transient receptor potential cation channels	17995	protein-coding gene	gene with protein product		607009	hypomagnesemia, secondary hypocalcemia	HOMG, HSH	NA	10021370, 12032570, 16382100	Standard	NM_017662	NM_017662	NA	Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.4365G>A	9.37:g.77377222C>T	ENSP00000354006:p.Trp1455*	NA	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	43	9.921600	0.99295	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864	.	.	.	5.81	5.81	0.92471	.	1.045860	0.07371	N	0.885724	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0621	0.97678	0.0:1.0:0.0:0.0	.	.	.	.	X	1455;1455;1450;1450;1455	.	ENSP00000354006:W1455X	W	-	3	0	TRPM6	76567042	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	5.331000	0.65905	2.750000	0.94351	0.655000	0.94253	TGG	TRPM6-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052693.1		-	ENST00000360774.1	Nonsense_Mutation	SNP	9 : 77377222 - 77377222 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	548	84
CUBN	8029	broad.mit.edu	37	10	17113900	17113900	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17113900G>A	ENST00000377833.4	-	18	2437	c.2372C>T	c.(2371-2373)aCt>aTt	p.T791I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	791	CUB 3.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GACACTATTAGTAATGGATTT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	55	55			NA	NA	10		NA											NA				17113900		2203	4299	6502	SO:0001583	missense			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611	8029	8029			2548	protein-coding gene	gene with protein product		602997		MGA1	NA	9572993, 9478979	Standard	NM_001081	NM_001081	NA	Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.2372C>T	10.37:g.17113900G>A	ENSP00000367064:p.Thr791Ile	NA	B0YIZ4|Q5VTA6|Q96RU9	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049988	0.55218	.	.	ENSG00000107611	ENST00000377833	T	0.30981	1.51	5.31	4.39	0.52855	CUB (5);	1.052280	0.07594	N	0.922464	T	0.45196	0.1330	L	0.54323	1.7	0.80722	D	1	P	0.48016	0.904	P	0.50136	0.632	T	0.19451	-1.0305	10	0.66056	D	0.02	.	15.1678	0.72842	0.0:0.3347:0.6653:0.0	.	791	O60494	CUBN_HUMAN	I	791	ENSP00000367064:T791I	ENSP00000367064:T791I	T	-	2	0	CUBN	17153906	1.000000	0.71417	0.571000	0.28486	0.745000	0.42441	5.152000	0.64882	1.224000	0.43551	0.454000	0.30748	ACT	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047009.1		-	ENST00000377833.4	Missense_Mutation	SNP	10 : 17113900 - 17113900 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	194	20
LRIT2	340745	broad.mit.edu	37	10	85984832	85984832	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85984832G>A	ENST00000372113.4	-	2	154	c.149C>T	c.(148-150)cCt>cTt	p.P50L	LRIT2_ENST00000538192.1_Missense_Mutation_p.P50L	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	50	LRRNT.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AAGGTTCCCAGGGATCTTTCC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	68	66			NA	NA	10		NA											NA				85984832		2174	4290	6464	SO:0001583	missense				CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033	340745	340745		Immunoglobulin superfamily / I-set domain containing	23443	protein-coding gene	gene with protein product			leucine rich repeat containing 22	LRRC22	NA		Standard	XM_291697	NM_001017924	NA	Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.149C>T	10.37:g.85984832G>A	ENSP00000361185:p.Pro50Leu	NA		37	CCDS31234.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.977243	0.34848	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.60920	0.15;0.15	5.71	2.51	0.30379	Leucine-rich repeat-containing N-terminal (1);	0.121035	0.56097	D	0.000024	T	0.50905	0.1643	M	0.64567	1.98	0.80722	D	1	P;P	0.47962	0.903;0.903	B;B	0.41236	0.351;0.351	T	0.51585	-0.8687	10	0.59425	D	0.04	.	8.0511	0.30579	0.118:0.0:0.7202:0.1618	.	50;50	B7ZME6;A6NDA9	.;LRIT2_HUMAN	L	50	ENSP00000361185:P50L;ENSP00000438264:P50L	ENSP00000361185:P50L	P	-	2	0	LRIT2	85974812	1.000000	0.71417	0.563000	0.28383	0.537000	0.34900	5.317000	0.65822	0.603000	0.29913	0.585000	0.79938	CCT	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049110.4		-	ENST00000372113.4	Missense_Mutation	SNP	10 : 85984832 - 85984832 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	467	74
GABARAPL1	23710	broad.mit.edu	37	12	10374440	10374440	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10374440T>C	ENST00000546017.1	+	4	1012	c.73T>C	c.(73-75)Tat>Cat	p.Y25H	GABARAPL1_ENST00000539170.1_Missense_Mutation_p.Y25H|GABARAPL1_ENST00000535576.1_Missense_Mutation_p.Y25H|GABARAPL1_ENST00000544284.1_Missense_Mutation_p.Y25H|GABARAPL1_ENST00000545887.1_Missense_Mutation_p.Y115H|GABARAPL1_ENST00000266458.5_Missense_Mutation_p.Y115H			Q9H0R8	GBRL1_HUMAN	GABA(A) receptor-associated protein like 1	115						autophagic vacuole|endoplasmic reticulum|Golgi apparatus|membrane|microtubule	beta-tubulin binding|GABA receptor binding			NS(1)|lung(1)	2						TGAGAGTGTCTATGGGAAATG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(3;46 76 4652 22680 42285)							NA				0													107	99	101			NA	NA	12		NA											NA				10374440		2203	4300	6503	SO:0001583	missense			AF087847	CCDS8620.1	12p13.31	2014-02-12			ENSG00000139112	ENSG00000139112	23710	23710			4068	protein-coding gene	gene with protein product		607420			NA	11414770, 11374880	Standard		NM_031412	NA	Approved	gec1, APG8L, ATG8L, ATG8B	uc001qxs.3	Q9H0R8	OTTHUMG00000168411	ENST00000546017.1:c.73T>C	12.37:g.10374440T>C	ENSP00000446456:p.Tyr25His	NA	Q6FIE6	37		.	.	.	.	.	.	.	.	.	.	T	14.73	2.622355	0.46840	.	.	ENSG00000139112	ENST00000266458;ENST00000544284;ENST00000545887;ENST00000546017;ENST00000535576;ENST00000539170	T;T;T;T;T;T	0.50813	0.79;0.73;0.79;0.73;0.73;0.73	5.43	5.43	0.79202	.	0.085531	0.50627	N	0.000110	T	0.60637	0.2284	M	0.86573	2.825	0.31322	N	0.685925	B	0.15719	0.014	B	0.34931	0.192	T	0.67948	-0.5538	10	0.87932	D	0	.	13.4361	0.61084	0.0:0.0:0.0:1.0	.	115	Q9H0R8	GBRL1_HUMAN	H	115;25;115;25;25;25	ENSP00000266458:Y115H;ENSP00000439734:Y25H;ENSP00000444186:Y115H;ENSP00000446456:Y25H;ENSP00000444738:Y25H;ENSP00000444209:Y25H	ENSP00000266458:Y115H	Y	+	1	0	GABARAPL1	10265707	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.673000	0.83973	2.060000	0.61445	0.533000	0.62120	TAT	GABARAPL1-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000399656.2		+	ENST00000546017.1	Missense_Mutation	SNP	12 : 10374440 - 10374440 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	271	59
JARID2	3720	broad.mit.edu	37	6	15497082	15497082	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:15497082C>T	ENST00000341776.2	+	7	1870	c.1626C>T	c.(1624-1626)gcC>gcT	p.A542A	JARID2_ENST00000541660.1_Silent_p.A504A|JARID2_ENST00000397311.3_Silent_p.A370A	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	542					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CGGGCAAGGCCGAGAAGGGCG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	27	26			NA	NA	6		NA											NA				15497082		2202	4298	6500	SO:0001819	synonymous_variant			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083	3720	3720			6196	protein-coding gene	gene with protein product		601594	jumonji (mouse) homolog, Jumonji, AT rich interactive domain 2	JMJ	NA	8894700	Standard	NM_004973	NM_001267040	NA	Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1626C>T	6.37:g.15497082C>T		NA	A8K9Z6|B7Z5S5|Q5U5L5|Q86X63	37	CCDS4533.1																																																																																			JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039926.1		+	ENST00000341776.2	Silent	SNP	6 : 15497082 - 15497082 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	197	27
POLE	5426	broad.mit.edu	37	12	133250198	133250198	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133250198G>A	ENST00000320574.5	-	13	1365	c.1322C>T	c.(1321-1323)cCg>cTg	p.P441L	POLE_ENST00000535270.1_Missense_Mutation_p.P414L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	441					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CATGTCCTCCGGGTCTAGCTC	0.637		NA						DNA polymerases (catalytic subunits)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	117	119			NA	NA	12		NA											NA				133250198		2203	4300	6503	SO:0001583	missense				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084	5426	5426		DNA polymerases	9177	protein-coding gene	gene with protein product	DNA polymerase epsilon catalytic subunit A	174762	polymerase (DNA directed), epsilon		NA	8020968	Standard	NM_006231	NM_006231	NA	Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.1322C>T	12.37:g.133250198G>A	ENSP00000322570:p.Pro441Leu	NA	Q13533|Q86VH9	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935356	0.73442	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577;ENST00000535934	T;T;T;T	0.16196	4.83;4.83;4.83;2.36	5.62	5.62	0.85841	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.58906	0.2155	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.72773	-0.4192	10	0.87932	D	0	.	19.656	0.95842	0.0:0.0:1.0:0.0	.	414;441	F5H1D6;Q07864	.;DPOE1_HUMAN	L	441;452;414;221;376;59	ENSP00000322570:P441L;ENSP00000406383:P452L;ENSP00000445753:P414L;ENSP00000442519:P221L	ENSP00000322570:P441L	P	-	2	0	POLE	131760271	1.000000	0.71417	0.971000	0.41717	0.024000	0.10985	9.735000	0.98825	2.660000	0.90430	0.305000	0.20034	CCG	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397689.2		-	ENST00000320574.5	Missense_Mutation	SNP	12 : 133250198 - 133250198 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	712	162
SMARCC2	6601	broad.mit.edu	37	12	56558242	56558242	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56558242G>A	ENST00000550164.1	-	28	3520	c.3506C>T	c.(3505-3507)tCc>tTc	p.S1169F	SMARCC2_ENST00000347471.4_Intron|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.S1138F|SMARCC2_ENST00000394023.3_Intron			Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1138	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GTTCGCCATGGACACAGGCAG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	70	72			NA	NA	12		NA											NA				56558242		2203	4300	6503	SO:0001583	missense			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613	6601	6601			11105	protein-coding gene	gene with protein product		601734			NA	8804307, 9693044	Standard		NM_001130420	NA	Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000550164.1:c.3506C>T	12.37:g.56558242G>A	ENSP00000449396:p.Ser1169Phe	NA	Q92923|Q96E12|Q96GY4	37		.	.	.	.	.	.	.	.	.	.	G	16.71	3.197876	0.58126	.	.	ENSG00000139613	ENST00000550164;ENST00000267064	T;T	0.47528	0.84;0.84	5.28	5.28	0.74379	.	0.000000	0.46758	D	0.000278	T	0.47820	0.1466	N	0.08118	0	0.36275	D	0.85539	D	0.55605	0.972	D	0.69142	0.962	T	0.55127	-0.8189	9	.	.	.	-11.0486	16.7715	0.85538	0.0:0.0:1.0:0.0	.	1138	Q8TAQ2	SMRC2_HUMAN	F	1169;1138	ENSP00000449396:S1169F;ENSP00000267064:S1138F	.	S	-	2	0	SMARCC2	54844509	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.109000	0.50345	2.639000	0.89480	0.563000	0.77884	TCC	SMARCC2-006	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000408460.1		-	ENST00000550164.1	Missense_Mutation	SNP	12 : 56558242 - 56558242 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	723	144
MYO18A	399687	broad.mit.edu	37	17	27421850	27421850	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27421850C>T	ENST00000527372.1	-	30	4708	c.4528G>A	c.(4528-4530)Gca>Aca	p.A1510T	MYO18A_ENST00000533112.1_Missense_Mutation_p.A1510T|MYO18A_ENST00000354329.4_Missense_Mutation_p.A1510T|MYO18A_ENST00000531253.1_Missense_Mutation_p.A1510T	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1510					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GTGAACCCTGCAATGTCCATG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(182;472 2015 7001 15270 22562)							NA				0													106	106	106			NA	NA	17		NA											NA				27421850		1935	4149	6084	SO:0001583	missense			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535	399687	399687		Myosins / Myosin superfamily : Class XVIII	31104	protein-coding gene	gene with protein product		610067			NA	12761286	Standard	NM_078471	NM_078471	NA	Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.4528G>A	17.37:g.27421850C>T	ENSP00000437073:p.Ala1510Thr	NA	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	37	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232462	0.39498	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.88	4.89	0.63831	Myosin tail (1);	0.187777	0.64402	D	0.000018	T	0.27933	0.0688	N	0.25647	0.755	0.33240	D	0.557108	B;B;B;B	0.20052	0.041;0.01;0.01;0.016	B;B;B;B	0.19946	0.016;0.011;0.007;0.027	T	0.33650	-0.9860	10	0.19590	T	0.45	.	9.5676	0.39409	0.1432:0.7866:0.0:0.0702	.	1122;1510;1510;1510	F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;MY18A_HUMAN	T	1510;1510;1510;1510;1510;406;406;1122	ENSP00000346291:A1510T;ENSP00000435932:A1510T;ENSP00000434228:A1510T;ENSP00000437073:A1510T	ENSP00000346291:A1510T	A	-	1	0	MYO18A	24445976	0.195000	0.23338	0.869000	0.34112	0.993000	0.82548	0.897000	0.28390	1.452000	0.47756	0.655000	0.94253	GCA	MYO18A-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389396.1		-	ENST00000527372.1	Missense_Mutation	SNP	17 : 27421850 - 27421850 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	545	116
PKD1L1	168507	broad.mit.edu	37	7	47886656	47886656	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47886656G>A	ENST00000289672.2	-	32	5024	c.4974C>T	c.(4972-4974)ggC>ggT	p.G1658G		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1658					cell-cell adhesion	integral to membrane		p.G1658G(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGGATAAATAGCCTACACTGG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	endometrium(1)											69	66	67			NA	NA	7		NA											NA				47886656		2203	4300	6503	SO:0001819	synonymous_variant			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683	168507	168507			18053	protein-coding gene	gene with protein product	polycystin-1L1	609721			NA	11863367	Standard	NM_138295	NM_138295	NA	Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.4974C>T	7.37:g.47886656G>A		NA	Q6UWK1	37	CCDS34633.1																																																																																			PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340974.1		-	ENST00000289672.2	Silent	SNP	7 : 47886656 - 47886656 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	191	51
ZNF607	84775	broad.mit.edu	37	19	38189413	38189413	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38189413T>G	ENST00000355202.4	-	5	2214	c.1619A>C	c.(1618-1620)aAg>aCg	p.K540T	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.K539T	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	540					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CCTAAAAGACTTCCCGCATTT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	59	60			NA	NA	19		NA											NA				38189413		2203	4300	6503	SO:0001583	missense			AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182	84775	84775		Zinc fingers, C2H2-type, -	28192	protein-coding gene	gene with protein product					NA	14702039	Standard	NM_032689	NM_032689	NA	Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.1619A>C	19.37:g.38189413T>G	ENSP00000347338:p.Lys540Thr	NA	Q6ZMN4|Q96C40	37	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	T	16.81	3.225450	0.58668	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.07908	3.15;3.15	2.26	2.26	0.28386	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28067	0.0692	M	0.82923	2.615	0.32279	N	0.567864	D;D	0.89917	0.999;1.0	D;D	0.87578	0.984;0.998	T	0.32693	-0.9897	9	0.87932	D	0	.	9.1906	0.37197	0.0:0.0:0.0:1.0	.	540;539	Q96SK3;F5H141	ZN607_HUMAN;.	T	540;539	ENSP00000347338:K540T;ENSP00000438015:K539T	ENSP00000347338:K540T	K	-	2	0	ZNF607	42881253	0.958000	0.32768	0.213000	0.23690	0.027000	0.11550	3.507000	0.53371	1.028000	0.39785	0.459000	0.35465	AAG	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459502.2		-	ENST00000355202.4	Missense_Mutation	SNP	19 : 38189413 - 38189413 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	64
NCOA6	23054	broad.mit.edu	37	20	33330454	33330454	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33330454C>T	ENST00000374796.2	-	12	6176	c.3606G>A	c.(3604-3606)gcG>gcA	p.A1202A	NCOA6_ENST00000359003.2_Silent_p.A1202A			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1202	NCOA1-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TCTGGGTTGGCGCAGCCACAT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	0,4406		0,0,2203	105	112	110		,3606	-6.1	1	20		110	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous	NCOA6	NM_001242539.1,NM_014071.3	,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,	,1202/2064	33330454	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646	23054	23054			15936	protein-coding gene	gene with protein product	nuclear receptor coactivator RAP250, activating signal cointegrator-2, peroxisome proliferator-activated receptor interacting protein	605299			NA	8724849, 8263591	Standard	NM_014071	NM_014071	NA	Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.3606G>A	20.37:g.33330454C>T		NA	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	37	CCDS13241.1																																																																																			NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078811.2		-	ENST00000374796.2	Silent	SNP	20 : 33330454 - 33330454 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	833	79
TRPC1	7220	broad.mit.edu	37	3	142467232	142467232	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142467232C>T	ENST00000273482.6	+	3	851	c.460C>T	c.(460-462)Ccc>Tcc	p.P154S	TRPC1_ENST00000476941.1_Missense_Mutation_p.P188S	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	188					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TCTACCCAAGCCCCATGCAGT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	172	170			NA	NA	3		NA											NA				142467232		2203	4300	6503	SO:0001583	missense			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935	7220	7220		Voltage-gated ion channels / Transient receptor potential cation channels	12333	protein-coding gene	gene with protein product		602343			NA	7568191, 16382100	Standard	NM_003304	NM_001251845	NA	Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000273482.6:c.460C>T	3.37:g.142467232C>T	ENSP00000273482:p.Pro154Ser	NA	Q14CE4	37	CCDS3126.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038560	0.93630	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	D;T	0.81499	-1.5;0.66	5.59	5.59	0.84812	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.92299	0.7557	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.93472	0.6820	10	0.87932	D	0	-24.4598	19.5934	0.95525	0.0:1.0:0.0:0.0	.	188;154	P48995;P48995-2	TRPC1_HUMAN;.	S	188;154	ENSP00000419313:P188S;ENSP00000273482:P154S	ENSP00000273482:P154S	P	+	1	0	TRPC1	143949922	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.461000	0.80834	2.641000	0.89580	0.460000	0.39030	CCC	TRPC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354476.2		+	ENST00000273482.6	Missense_Mutation	SNP	3 : 142467232 - 142467232 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	971	198
AASDHPPT	60496	broad.mit.edu	37	11	105950319	105950319	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:105950319G>A	ENST00000278618.4	+	2	531	c.309G>A	c.(307-309)ccG>ccA	p.P103P		NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	103					macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding	p.P103P(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		ATCCTTACCCGAATTTCAACT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											110	109	109			NA	NA	11		NA											NA				105950319		2201	4299	6500	SO:0001819	synonymous_variant			AF302110	CCDS31664.1	11q22	2010-12-09			ENSG00000149313	ENSG00000149313	60496	60496	1.2.1.31		14235	protein-coding gene	gene with protein product		607756			NA	12815048, 11286508	Standard	NM_015423	NM_015423	NA	Approved	LYS5, CGI-80, AASD-PPT	uc001pjc.1	Q9NRN7	OTTHUMG00000166253	ENST00000278618.4:c.309G>A	11.37:g.105950319G>A		NA	B2R6D1|Q9C068|Q9P0Q3|Q9UG80|Q9Y389	37	CCDS31664.1																																																																																			AASDHPPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388734.1		+	ENST00000278618.4	Silent	SNP	11 : 105950319 - 105950319 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	422	72
SDK1	221935	broad.mit.edu	37	7	4011159	4011159	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4011159G>A	ENST00000389531.3	+	12	1776	c.1776G>A	c.(1774-1776)acG>acA	p.T592T	SDK1_ENST00000404826.2_Silent_p.T592T			Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	592	Ig-like C2-type 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCACGGCCACGCTGCACTGTG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	73	78			NA	NA	7		NA											NA				4011159		2203	4300	6503	SO:0001819	synonymous_variant			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555	221935	221935		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	19307	protein-coding gene	gene with protein product		607216	sidekick homolog 1 (chicken), sidekick homolog 1, cell adhesion molecule (chicken)		NA	12230981, 17307840, 15213259	Standard	NM_152744	NM_001079653	NA	Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000389531.3:c.1776G>A	7.37:g.4011159G>A		NA	Q8TEN9|Q8TEP5|Q96N44	37																																																																																				SDK1-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000323705.2		+	ENST00000389531.3	Silent	SNP	7 : 4011159 - 4011159 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	147	12
MYBBP1A	10514	broad.mit.edu	37	17	4445963	4445963	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4445963C>T	ENST00000254718.4	-	21	3272	c.2966G>A	c.(2965-2967)cGc>cAc	p.R989H	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.R989H			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	989					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GGGGCTGTTGCGCTTGGTCAG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	136	140			NA	NA	17		NA											NA				4445963		2203	4300	6503	SO:0001583	missense			AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382	10514	10514			7546	protein-coding gene	gene with protein product	p53-activated protein-2	604885			NA	10644447	Standard	NM_014520	NM_014520	NA	Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.2966G>A	17.37:g.4445963C>T	ENSP00000254718:p.Arg989His	NA	Q86VM3|Q9BW49|Q9P0V5|Q9UF99	37	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.738408	0.89573	.	.	ENSG00000132382	ENST00000381556;ENST00000254718	T;T	0.68181	-0.31;-0.31	5.7	4.73	0.59995	Armadillo-type fold (1);	0.102039	0.64402	D	0.000003	T	0.78874	0.4352	M	0.71581	2.175	0.42954	D	0.994382	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.80115	-0.1517	10	0.56958	D	0.05	-26.5309	10.5564	0.45121	0.0:0.9112:0.0:0.0888	.	989;989	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	H	989	ENSP00000370968:R989H;ENSP00000254718:R989H	ENSP00000254718:R989H	R	-	2	0	MYBBP1A	4392712	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	4.033000	0.57282	1.420000	0.47138	0.655000	0.94253	CGC	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207488.2		-	ENST00000254718.4	Missense_Mutation	SNP	17 : 4445963 - 4445963 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	620	101
TIFA	92610	broad.mit.edu	37	4	113199287	113199287	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113199287G>A	ENST00000361717.3	-	2	567	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L	TIFA_ENST00000500655.2_Silent_p.L96L	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain	NA	FHA.						protein binding			breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		TCCACGATCAGATTGGTCTTT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	44	44			NA	NA	4		NA											NA				113199287		2203	4300	6503	SO:0001819	synonymous_variant			BC008294	CCDS34051.1	4q25	2008-03-17				ENSG00000145365	92610	92610			19075	protein-coding gene	gene with protein product	TRAF2 binding protein, TRAF6 binding protein	609028			NA	1179819	Standard	NM_052864	NM_052864	NA	Approved	MGC20791, T2BP, T6BP, TIFAA	uc003ial.3	Q96CG3		ENST00000361717.3:c.286C>T	4.37:g.113199287G>A		NA		37	CCDS34051.1																																																																																			TIFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363647.2		-	ENST00000361717.3	Silent	SNP	4 : 113199287 - 113199287 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	47
NKD1	85407	broad.mit.edu	37	16	50667286	50667286	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50667286G>A	ENST00000268459.3	+	10	1231	c.1007G>A	c.(1006-1008)cGg>cAg	p.R336Q		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	336					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CAACGGCTCCGGGGCACCCAG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	83	79			NA	NA	16		NA											NA				50667286		2198	4300	6498	SO:0001583	missense			AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807	85407	85407		EF-hand domain containing	17045	protein-coding gene	gene with protein product		607851			NA	11356022	Standard		NM_033119	NA	Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.1007G>A	16.37:g.50667286G>A	ENSP00000268459:p.Arg336Gln	NA	B2RC39|Q8WZ08	37	CCDS10743.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308309	0.81247	.	.	ENSG00000140807	ENST00000268459	T	0.69435	-0.4	4.44	4.44	0.53790	.	0.069272	0.64402	D	0.000017	T	0.79851	0.4517	M	0.74881	2.28	0.46586	D	0.999114	D	0.76494	0.999	D	0.65323	0.934	T	0.82922	-0.0217	10	0.72032	D	0.01	-23.2055	15.4353	0.75140	0.0:0.0:1.0:0.0	.	336	Q969G9	NKD1_HUMAN	Q	336	ENSP00000268459:R336Q	ENSP00000268459:R336Q	R	+	2	0	NKD1	49224787	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.636000	0.74299	2.297000	0.77311	0.585000	0.79938	CGG	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256873.1		+	ENST00000268459.3	Missense_Mutation	SNP	16 : 50667286 - 50667286 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	582	109
ABTB2	25841	broad.mit.edu	37	11	34194836	34194836	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:34194836C>T	ENST00000435224.2	-	4	1687	c.1263G>A	c.(1261-1263)ccG>ccA	p.P421P	ABTB2_ENST00000530814.1_5'UTR|ABTB2_ENST00000298992.2_Silent_p.P235P	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	235							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CCATGAGGGGCGGCAGCAGCA	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	14	14			NA	NA	11		NA											NA				34194836		2197	4297	6494	SO:0001819	synonymous_variant			AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016	25841	25841		BTB/POZ domain containing, Ankyrin repeat domain containing	23842	protein-coding gene	gene with protein product					NA		Standard	NM_145804	NM_145804	NA	Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.1263G>A	11.37:g.34194836C>T		NA		37	CCDS7890.2																																																																																			ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388703.3		-	ENST00000435224.2	Silent	SNP	11 : 34194836 - 34194836 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	91	7
DCT	1638	broad.mit.edu	37	13	95092163	95092163	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95092163C>A	ENST00000377028.5	-	8	1962	c.1549G>T	c.(1549-1551)Gaa>Taa	p.E517*	DCT_ENST00000446125.1_Nonsense_Mutation_p.E550*	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	517					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TAGGCTTCTTCTGTGTATCTC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	126	126			NA	NA	13		NA											NA				95092163		2203	4300	6503	SO:0001587	stop_gained			D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	1638	1638	5.3.3.12		2709	protein-coding gene	gene with protein product	dopachrome delta-isomerase	191275	tyrosine-related protein 2	TYRP2	NA	8306979	Standard		NM_001922	NA	Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.1549G>T	13.37:g.95092163C>A	ENSP00000366227:p.Glu517*	NA		37	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	C	40	7.959632	0.98583	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	.	.	.	4.88	4.02	0.46733	.	0.109699	0.64402	D	0.000014	.	.	.	.	.	.	0.46631	D	0.999132	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-11.7436	13.6736	0.62440	0.0:0.8104:0.1896:0.0	.	.	.	.	X	517;550	.	ENSP00000366227:E517X	E	-	1	0	DCT	93890164	0.998000	0.40836	0.089000	0.20774	0.806000	0.45545	4.052000	0.57420	1.093000	0.41377	0.563000	0.77884	GAA	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045461.3		-	ENST00000377028.5	Nonsense_Mutation	SNP	13 : 95092163 - 95092163 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	512	74
ZNF700	90592	broad.mit.edu	37	19	12059625	12059625	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12059625T>C	ENST00000482090.1	+	3	1150	c.732T>C	c.(730-732)tcT>tcC	p.S244S	ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000254321.5_Silent_p.S262S|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TTACTTATTCTGCTACCCTTC	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	47	48			NA	NA	19		NA											NA				12059625		2203	4300	6503	SO:0001819	synonymous_variant			AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757	90592	90592		Zinc fingers, C2H2-type, -	25292	protein-coding gene	gene with protein product					NA		Standard	NM_144566	NM_144566	NA	Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000482090.1:c.732T>C	19.37:g.12059625T>C		NA	B9EGU4	37																																																																																				ZNF700-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000344127.2		+	ENST00000482090.1	Silent	SNP	19 : 12059625 - 12059625 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	262	41
TMEM182	130827	broad.mit.edu	37	2	103431254	103431254	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103431254G>A	ENST00000412401.2	+	5	722	c.517G>A	c.(517-519)Gca>Aca	p.A173T	TMEM182_ENST00000409528.1_Missense_Mutation_p.A77T|TMEM182_ENST00000409173.1_Missense_Mutation_p.A130T|TMEM182_ENST00000486293.1_Intron	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	173						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						CTGGGTCCAGGCAGTGGCTGA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	88	94			NA	NA	2		NA											NA				103431254		2203	4300	6503	SO:0001583	missense			AK054856	CCDS2064.1	2q12.1	2009-08-25			ENSG00000170417	ENSG00000170417	130827	130827			26391	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_144632	NM_144632	NA	Approved	FLJ30294	uc010fjb.3	Q6ZP80	OTTHUMG00000130779	ENST00000412401.2:c.517G>A	2.37:g.103431254G>A	ENSP00000394178:p.Ala173Thr	NA	C9JML7|Q3B7B8|Q53TT9|Q6GMU0|Q8WW45|Q96NR4	37	CCDS2064.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925589	0.52759	.	.	ENSG00000170417	ENST00000409528;ENST00000409173;ENST00000412401	T;T;T	0.68479	-0.33;-0.33;-0.33	6.16	5.27	0.74061	.	0.229666	0.46145	D	0.000306	T	0.69424	0.3109	L	0.44542	1.39	0.42575	D	0.993199	P;P	0.41784	0.643;0.762	P;P	0.50378	0.639;0.639	T	0.67829	-0.5569	10	0.33141	T	0.24	-3.7239	15.7838	0.78286	0.0:0.1353:0.8647:0.0	.	173;130	Q6ZP80;B8ZZ71	TM182_HUMAN;.	T	77;130;173	ENSP00000387258:A77T;ENSP00000387184:A130T;ENSP00000394178:A173T	ENSP00000387184:A130T	A	+	1	0	TMEM182	102797686	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	3.473000	0.53122	1.583000	0.49898	0.650000	0.86243	GCA	TMEM182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253293.1		+	ENST00000412401.2	Missense_Mutation	SNP	2 : 103431254 - 103431254 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	208	45
LAMB1	3912	broad.mit.edu	37	7	107616323	107616323	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107616323C>A	ENST00000393561.1	-	8	1257		c.e8-1		LAMB1_ENST00000393560.1_Splice_Site|LAMB1_ENST00000222399.6_Splice_Site			P07942	LAMB1_HUMAN	laminin, beta 1	NA					axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGTTACATTCTGCGTGACAA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	59	64			NA	NA	7		NA											NA				107616323		2203	4300	6503	SO:0001630	splice_region_variant			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136	3912	3912		Laminins	6486	protein-coding gene	gene with protein product		150240	cutis laxa with marfanoid phenotype	CLM	NA	2563160, 2704655, 1864606	Standard	NM_002291	NM_002291	NA	Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000393561.1:c.1073-1G>T	7.37:g.107616323C>A		NA	Q14D91	37		.	.	.	.	.	.	.	.	.	.	C	21.3	4.133344	0.77662	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1738	0.93594	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LAMB1	107403559	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	7.564000	0.82326	2.764000	0.94973	0.655000	0.94253	.	LAMB1-003	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000314586.1	Intron	-	ENST00000393561.1	Splice_Site	SNP	7 : 107616323 - 107616323 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	44
SERPINA5	5104	broad.mit.edu	37	14	95054179	95054179	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95054179C>T	ENST00000554866.1	+	2	594	c.480C>T	c.(478-480)acC>acT	p.T160T	SERPINA5_ENST00000554276.1_Silent_p.T160T|SERPINA5_ENST00000329597.7_Silent_p.T160T|SERPINA5_ENST00000553780.1_Silent_p.T160T			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	160					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CTTTCCCTACCAACTTTAGGG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	77	80			NA	NA	14		NA											NA				95054179		2203	4300	6503	SO:0001819	synonymous_variant			M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488	5104	5104		Serine (or cysteine) peptidase inhibitors	8723	protein-coding gene	gene with protein product		601841	serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	PLANH3, PCI	NA	1714450, 8381582, 24172014	Standard	NM_000624	NM_000624	NA	Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.480C>T	14.37:g.95054179C>T		NA	Q07616|Q9UG30	37	CCDS9928.1																																																																																			SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410726.1		+	ENST00000554866.1	Silent	SNP	14 : 95054179 - 95054179 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	47
SHANK1	50944	broad.mit.edu	37	19	51165631	51165631	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51165631C>T	ENST00000293441.1	-	23	6095	c.6077G>A	c.(6076-6078)gGa>gAa	p.G2026E	SHANK1_ENST00000359082.3_Missense_Mutation_p.G2017E|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Missense_Mutation_p.G2034E|SHANK1_ENST00000483981.2_5'UTR|SHANK1_ENST00000391813.1_Missense_Mutation_p.G1413E	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2026			G -> R (in a colorectal cancer sample; somatic mutation).		cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GTAGAGGGGTCCGGAAGGCAG	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	18	18			NA	NA	19		NA											NA				51165631		2180	4266	6446	SO:0001583	missense			AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681	50944	50944		Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	15474	protein-coding gene	gene with protein product	somatostatin receptor-interacting protein	604999			NA	10551867	Standard	NM_016148	NM_016148	NA	Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.6077G>A	19.37:g.51165631C>T	ENSP00000293441:p.Gly2026Glu	NA	A8MXP5|B7WNY6|Q9NYW9	37	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	c	8.484	0.860483	0.17178	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.36520	1.37;1.82;1.36;1.25	3.46	3.46	0.39613	.	0.593958	0.14308	U	0.327895	T	0.33469	0.0864	L	0.40543	1.245	0.27133	N	0.961838	P;P	0.45827	0.652;0.867	B;P	0.47645	0.173;0.553	T	0.12016	-1.0564	10	0.49607	T	0.09	.	6.4576	0.21938	0.204:0.5973:0.1986:0.0	.	2026;1413	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	E	2026;1413;2017;2034	ENSP00000293441:G2026E;ENSP00000375689:G1413E;ENSP00000351984:G2017E;ENSP00000375690:G2034E	ENSP00000293441:G2026E	G	-	2	0	SHANK1	55857443	0.000000	0.05858	0.993000	0.49108	0.979000	0.70002	0.447000	0.21710	1.940000	0.56252	0.455000	0.32223	GGA	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268071.1		-	ENST00000293441.1	Missense_Mutation	SNP	19 : 51165631 - 51165631 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	97	20
AGAP3	116988	broad.mit.edu	37	7	150837093	150837093	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150837093C>T	ENST00000463381.1	+	12	1307				AGAP3_ENST00000397238.2_Missense_Mutation_p.S565F	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	NA					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GTACTCAGTTCCAGCCCCAAG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	29	27			NA	NA	7		NA											NA				150837093		1946	4135	6081	SO:0001627	intron_variant			AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612	116988	116988		ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing	16923	protein-coding gene	gene with protein product			centaurin, gamma 3	CENTG3	NA		Standard	NM_031946	NM_001042535	NA	Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.812-1892C>T	7.37:g.150837093C>T		NA	Q59EN0|Q96RK3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.765334|4.765334	0.90020|0.90020	.|.	.|.	ENSG00000133612|ENSG00000133612	ENST00000461065|ENST00000397232;ENST00000397238;ENST00000335355	.|T	.|0.70164	.|-0.46	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	.|0.775970	.|0.11883	.|N	.|0.520288	T|T	0.72011|0.72011	0.3408|0.3408	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|P;D	.|0.71674	.|0.943;0.998	.|B;P	.|0.61132	.|0.445;0.884	T|T	0.73325|0.73325	-0.4018|-0.4018	5|10	.|0.66056	.|D	.|0.02	.|.	17.2093|17.2093	0.86926|0.86926	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|64;565	.|E7ETI2;Q96P47-4	.|.;.	S|F	58|64;565;529	.|ENSP00000380413:S565F	.|ENSP00000334157:S529F	P|S	+|+	1|2	0|0	AGAP3|AGAP3	150468026|150468026	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	4.562000|4.562000	0.60816|0.60816	2.275000|2.275000	0.75901|0.75901	0.655000|0.655000	0.94253|0.94253	CCA|TCC	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000351909.2		+	ENST00000463381.1	Intron	SNP	7 : 150837093 - 150837093 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	60	10
ACAN	176	broad.mit.edu	37	15	89402178	89402178	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89402178G>T	ENST00000559004.1	+	12	6420	c.6362G>T	c.(6361-6363)aGa>aTa	p.R2121I	ACAN_ENST00000561243.1_Missense_Mutation_p.R2121I|ACAN_ENST00000439576.2_Missense_Mutation_p.R2121I|ACAN_ENST00000352105.7_Missense_Mutation_p.R2121I			E7EX88	E7EX88_HUMAN	aggrecan	2121					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GAGGCCAGCAGAGAAGATTCT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	53	53			NA	NA	15		NA											NA				89402178		1931	4130	6061	SO:0001583	missense			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766	176	176		Immunoglobulin superfamily / V-set domain containing, Proteoglycans / Extracellular Matrix : Hyalectans	319	protein-coding gene	gene with protein product	aggrecan proteoglycan	155760	chondroitin sulfate proteoglycan 1, aggrecan 1	MSK16, CSPG1, AGC1	NA	1985970	Standard	NM_001135	NM_013227	NA	Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000559004.1:c.6362G>T	15.37:g.89402178G>T	ENSP00000453499:p.Arg2121Ile	NA		37		.	.	.	.	.	.	.	.	.	.	G	5.291	0.239075	0.10023	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02140	4.69;4.43	4.31	3.37	0.38596	.	.	.	.	.	T	0.01870	0.0059	N	0.08118	0	0.09310	N	1	D;D	0.57571	0.964;0.98	P;P	0.46275	0.51;0.51	T	0.54938	-0.8218	9	0.36615	T	0.2	-2.7329	9.1516	0.36967	0.0:0.1486:0.6761:0.1753	.	2121;2121	E7ENV9;E7EX88	.;.	I	2121;2121;2007	ENSP00000387356:R2121I;ENSP00000341615:R2121I	ENSP00000268134:R2007I	R	+	2	0	ACAN	87203182	0.062000	0.20869	0.042000	0.18584	0.015000	0.08874	1.400000	0.34577	0.900000	0.36469	-0.494000	0.04653	AGA	ACAN-008	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000418839.1		+	ENST00000559004.1	Missense_Mutation	SNP	15 : 89402178 - 89402178 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	394	57
TAT	6898	broad.mit.edu	37	16	71604584	71604584	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71604584C>T	ENST00000355962.4	-	8	1043	c.910G>A	c.(910-912)Gag>Aag	p.E304K	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	304					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	ATTATCACCTCATTGCCAAAA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)							NA				0													64	61	62			NA	NA	16		NA											NA				71604584		2198	4300	6498	SO:0001583	missense				CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	6898	6898	2.6.1.5		11573	protein-coding gene	gene with protein product		613018			NA		Standard		NM_000353	NA	Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.910G>A	16.37:g.71604584C>T	ENSP00000348234:p.Glu304Lys	NA	B2R8I1|D3DWS2	37	CCDS10903.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.367297	0.41902	.	.	ENSG00000198650	ENST00000355962	D	0.91124	-2.79	5.44	5.44	0.79542	Tyrosine aminotransferase (1);Aminotransferase, class I/classII (1);Tyrosine/nicotianamine aminotransferase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.163302	0.56097	D	0.000033	D	0.86973	0.6062	L	0.31845	0.965	0.54753	D	0.999987	B	0.27264	0.173	B	0.27170	0.077	T	0.83192	-0.0083	10	0.35671	T	0.21	-22.7911	19.2736	0.94021	0.0:1.0:0.0:0.0	.	304	P17735	ATTY_HUMAN	K	304	ENSP00000348234:E304K	ENSP00000348234:E304K	E	-	1	0	TAT	70162085	1.000000	0.71417	1.000000	0.80357	0.439000	0.31926	4.518000	0.60510	2.546000	0.85860	0.563000	0.77884	GAG	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268989.1		-	ENST00000355962.4	Missense_Mutation	SNP	16 : 71604584 - 71604584 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	302	9
USP5	8078	broad.mit.edu	37	12	6970734	6970734	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6970734C>T	ENST00000229268.8	+	13	1678	c.1626C>T	c.(1624-1626)gtC>gtT	p.V542V	USP5_ENST00000389231.5_Silent_p.V542V|USP5_ENST00000541969.1_3'UTR	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	542					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						CTGAGCAGGTCGATGACTTCT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	51	50			NA	NA	12		NA											NA				6970734		2203	4300	6503	SO:0001819	synonymous_variant			U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667	NA	8078		Ubiquitin-specific peptidases	12628	protein-coding gene	gene with protein product		601447	ubiquitin specific protease 5 (isopeptidase T)		NA	12838346, 8723724	Standard		NM_003481	NA	Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.1626C>T	12.37:g.6970734C>T		NA	D3DUS7|D3DUS8|Q96J22	37	CCDS41743.1																																																																																			USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402982.1		+	ENST00000229268.8	Silent	SNP	12 : 6970734 - 6970734 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	443	47
ICAM5	7087	broad.mit.edu	37	19	10402269	10402269	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10402269C>T	ENST00000221980.4	+	3	520	c.457C>T	c.(457-459)Ctc>Ttc	p.L153F	ICAM5_ENST00000586004.1_3'UTR	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	153	Ig-like C2-type 2.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CCGTGCGAGCCTCACGCTGAC	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	33	30			NA	NA	19		NA											NA				10402269		2139	4191	6330	SO:0001583	missense			U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376	7087	7087		Immunoglobulin superfamily / Immunoglobulin-like domain containing	5348	protein-coding gene	gene with protein product	telencephalin	601852		TLCN	NA	8995416, 9828136	Standard	NM_003259	NM_003259	NA	Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.457C>T	19.37:g.10402269C>T	ENSP00000221980:p.Leu153Phe	NA	Q9Y6F3	37	CCDS12233.1	.	.	.	.	.	.	.	.	.	.	c	27.9	4.873232	0.91664	.	.	ENSG00000105376	ENST00000221980	T	0.07327	3.2	5.5	5.5	0.81552	Intercellular adhesion molecule/vascular cell adhesion molecule, N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.30355	0.0762	M	0.78916	2.43	0.36512	D	0.869632	D	0.89917	1.0	D	0.97110	1.0	T	0.18840	-1.0324	10	0.66056	D	0.02	-29.093	14.9435	0.71012	0.0:1.0:0.0:0.0	.	153	Q9UMF0	ICAM5_HUMAN	F	153	ENSP00000221980:L153F	ENSP00000221980:L153F	L	+	1	0	ICAM5	10263269	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	2.566000	0.45948	2.602000	0.87976	0.466000	0.42574	CTC	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451217.1		+	ENST00000221980.4	Missense_Mutation	SNP	19 : 10402269 - 10402269 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	661	32
CXXC11	0	broad.mit.edu	37	2	242815311	242815311	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242815311G>T	ENST00000343216.3	+	2	1632	c.1604G>T	c.(1603-1605)aGg>aTg	p.R535M		NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN		535						integral to membrane					NA						GCCTGCCGTAGGCCGCACGCC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	86	82			NA	NA	2		NA											NA				242815311		2068	4172	6240	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000343216.3:c.1604G>T	2.37:g.242815311G>T	ENSP00000345374:p.Arg535Met	NA	Q8N2A5	37	CCDS42843.1	.	.	.	.	.	.	.	.	.	.	.	14.67	2.605771	0.46527	.	.	ENSG00000188011	ENST00000343216	T	0.27890	1.64	2.06	0.129	0.14739	.	.	.	.	.	T	0.22551	0.0544	N	0.08118	0	0.09310	N	1	D	0.54964	0.969	P	0.56042	0.79	T	0.10359	-1.0633	9	0.72032	D	0.01	-7.2163	3.2603	0.06846	0.1753:0.2793:0.5455:0.0	.	535	Q14D33	CB085_HUMAN	M	535	ENSP00000345374:R535M	ENSP00000345374:R535M	R	+	2	0	C2orf85	242463984	0.000000	0.05858	0.012000	0.15200	0.347000	0.29111	0.031000	0.13710	0.028000	0.15324	0.196000	0.17591	AGG	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322310.1		+	ENST00000343216.3	Missense_Mutation	SNP	2 : 242815311 - 242815311 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1059	260
MMP26	56547	broad.mit.edu	37	11	5013249	5013249	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5013249G>T	ENST00000380390.1	+	6	867	c.651G>T	c.(649-651)caG>caT	p.Q217H	MMP26_ENST00000300762.1_Missense_Mutation_p.Q217H			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	217					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGGGCCTGCAGCACTCTGGGA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	65	66			NA	NA	11		NA											NA				5013249		2201	4298	6499	SO:0001583	missense			AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	56547	56547	3.4.24.1		14249	protein-coding gene	gene with protein product	matrilysin 2	605470	matrix metalloproteinase 26		NA	10801841, 10824119	Standard	NM_021801	NM_021801	NA	Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.651G>T	11.37:g.5013249G>T	ENSP00000369753:p.Gln217His	NA	Q3MJ78|Q9GZS2|Q9NR87	37	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	G	0.351	-0.944724	0.02304	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.21543	2.0;2.0	3.79	-3.17	0.05202	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	4.533080	0.00669	N	0.000629	T	0.11965	0.0291	N	0.16708	0.43	0.09310	N	0.999991	B	0.21381	0.055	B	0.30646	0.118	T	0.15464	-1.0436	10	0.12766	T	0.61	5.7276	2.8457	0.05542	0.2533:0.4746:0.1499:0.1222	.	217	Q9NRE1	MMP26_HUMAN	H	217	ENSP00000369753:Q217H;ENSP00000300762:Q217H	ENSP00000300762:Q217H	Q	+	3	2	MMP26	4969825	0.000000	0.05858	0.003000	0.11579	0.472000	0.32918	-3.215000	0.00554	-0.410000	0.07542	-0.305000	0.09177	CAG	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000142058.3		+	ENST00000380390.1	Missense_Mutation	SNP	11 : 5013249 - 5013249 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	279	43
NFATC2	4773	broad.mit.edu	37	20	50071220	50071220	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50071220G>A	ENST00000371564.3	-	6	1933	c.1714C>T	c.(1714-1716)Cga>Tga	p.R572*	NFATC2_ENST00000609943.1_Nonsense_Mutation_p.R552*|NFATC2_ENST00000609507.1_Nonsense_Mutation_p.R353*|NFATC2_ENST00000610033.1_Nonsense_Mutation_p.R353*|NFATC2_ENST00000414705.1_Nonsense_Mutation_p.R552*|NFATC2_ENST00000396009.3_Nonsense_Mutation_p.R572*	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	572	RHD.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TGAGCAGATCGCTGGGCTGCA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	122	123			NA	NA	20		NA											NA				50071220		2203	4300	6503	SO:0001587	stop_gained			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096	4773	4773		Nuclear factor of activated T-cells	7776	protein-coding gene	gene with protein product		600490			NA	8202141	Standard	NM_012340	NM_012340	NA	Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000371564.3:c.1714C>T	20.37:g.50071220G>A	ENSP00000360619:p.Arg572*	NA	Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	37	CCDS33488.1	.	.	.	.	.	.	.	.	.	.	G	41	8.675014	0.98910	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	.	.	.	5.59	4.58	0.56647	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.1039	13.2218	0.59892	0.0:0.0:0.7277:0.2723	.	.	.	.	X	572;572;552	.	ENSP00000360619:R572X	R	-	1	2	NFATC2	49504627	1.000000	0.71417	0.998000	0.56505	0.895000	0.52256	4.442000	0.59988	2.622000	0.88805	0.650000	0.86243	CGA	NFATC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079729.2		-	ENST00000371564.3	Nonsense_Mutation	SNP	20 : 50071220 - 50071220 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	685	54
CTTNBP2	83992	broad.mit.edu	37	7	117420533	117420533	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117420533A>T	ENST00000160373.3	-	7	2576	c.2485T>A	c.(2485-2487)Ttg>Atg	p.L829M		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	829										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GCTTCCAACAAGAGTTTAATA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	148	148			NA	NA	7		NA											NA				117420533		2203	4300	6503	SO:0001583	missense				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063	83992	83992		Ankyrin repeat domain containing	15679	protein-coding gene	gene with protein product		609772	cortactin binding protein 2	CORTBP2, C7orf8	NA	11707066	Standard	NM_033427	XM_005250635	NA	Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.2485T>A	7.37:g.117420533A>T	ENSP00000160373:p.Leu829Met	NA	O43389|Q7LG11|Q9C0A5	37	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.44|15.44	2.834947|2.834947	0.50951|0.50951	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000446636|ENST00000160373	T|D	0.69806|0.90004	-0.43|-2.6	5.78|5.78	-2.05|-2.05	0.07321|0.07321	.|Ankyrin repeat-containing domain (3);	0.063133|0.063133	0.64402|0.64402	D|D	0.000008|0.000008	D|D	0.93462|0.93462	0.7914|0.7914	M|M	0.84948|0.84948	2.725|2.725	0.37406|0.37406	D|D	0.913042|0.913042	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.93340|0.93340	0.6709|0.6709	8|10	0.66056|0.87932	D|D	0.02|0	-7.1708|-7.1708	12.828|12.828	0.57731|0.57731	0.5502:0.0:0.4498:0.0|0.5502:0.0:0.4498:0.0	.|.	.|829	.|Q8WZ74	.|CTTB2_HUMAN	H|M	316|829	ENSP00000389576:L316H|ENSP00000160373:L829M	ENSP00000389576:L316H|ENSP00000160373:L829M	L|L	-|-	2|1	0|2	CTTNBP2|CTTNBP2	117207769|117207769	0.973000|0.973000	0.33851|0.33851	0.561000|0.561000	0.28357|0.28357	0.450000|0.450000	0.32258|0.32258	0.600000|0.600000	0.24104|0.24104	-0.263000|-0.263000	0.09378|0.09378	-0.290000|-0.290000	0.09829|0.09829	CTT|TTG	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059201.4		-	ENST00000160373.3	Missense_Mutation	SNP	7 : 117420533 - 117420533 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	747	118
ANKFN1	162282	broad.mit.edu	37	17	54554920	54554920	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54554920C>A	ENST00000566473.2	+	15	1854	c.1854C>A	c.(1852-1854)ctC>ctA	p.L618L	ANKFN1_ENST00000318698.2_Silent_p.L618L			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	618										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ACCTAAAGCTCTGTAGCTCTG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	120	122			NA	NA	17		NA											NA				54554920		2203	4300	6503	SO:0001819	synonymous_variant			AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930	162282	162282		Ankyrin repeat domain containing, Fibronectin type III domain containing	26766	protein-coding gene	gene with protein product					NA		Standard	NM_153228	NM_153228	NA	Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000566473.2:c.1854C>A	17.37:g.54554920C>A		NA		37																																																																																				ANKFN1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000435456.2		+	ENST00000566473.2	Silent	SNP	17 : 54554920 - 54554920 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	605	127
SDAD1	55153	broad.mit.edu	37	4	76895229	76895229	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76895229C>T	ENST00000356260.5	-	7	754	c.636G>A	c.(634-636)aaG>aaA	p.K212K	SDAD1_ENST00000395711.4_Splice_Site_p.K175K	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	212					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGGTGCTCACCTTGGTGACCT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													190	157	168			NA	NA	4		NA											NA				76895229		2203	4300	6503	SO:0001630	splice_region_variant			AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301	55153	55153			25537	protein-coding gene	gene with protein product					NA	11483580	Standard	NM_018115	NM_001288984	NA	Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.636+1G>A	4.37:g.76895229C>T		NA	Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	37	CCDS3573.2																																																																																			SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252418.3	Silent	-	ENST00000356260.5	Splice_Site	SNP	4 : 76895229 - 76895229 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	514	83
XRRA1	143570	broad.mit.edu	37	11	74617337	74617337	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74617337T>A	ENST00000340360.6	-	10	1257	c.926A>T	c.(925-927)gAt>gTt	p.D309V	RP11-147I3.1_ENST00000533875.1_RNA|XRRA1_ENST00000527087.1_Missense_Mutation_p.D309V|XRRA1_ENST00000321448.8_Missense_Mutation_p.D76V	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	309					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						CAGTTGCTCATCTGAGTCCTC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	122	122			NA	NA	11		NA											NA				74617337		1955	4142	6097	SO:0001583	missense			AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435	143570	143570			18868	protein-coding gene	gene with protein product		609788			NA	12908878, 17295261	Standard	NM_182969	NM_182969	NA	Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.926A>T	11.37:g.74617337T>A	ENSP00000339918:p.Asp309Val	NA	B5MD90|Q7RTT7|Q7Z463|Q7Z4U0	37	CCDS44680.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.105787	0.77096	.	.	ENSG00000166435	ENST00000340360;ENST00000321448;ENST00000344880;ENST00000398418;ENST00000527087	T;T;T	0.51817	0.69;1.45;0.71	5.56	5.56	0.83823	.	0.671525	0.14183	N	0.335896	T	0.47820	0.1466	L	0.53249	1.67	0.31762	N	0.633189	P;P;P;P	0.50617	0.8;0.514;0.852;0.937	B;B;B;P	0.44394	0.143;0.284;0.354;0.448	T	0.58498	-0.7626	10	0.46703	T	0.11	-1.0607	12.1158	0.53863	0.0:0.0:0.0:1.0	.	309;76;309;309	Q6P2D8;E9PL06;Q6P2D8-2;Q6P2D8-4	XRRA1_HUMAN;.;.;.	V	309;76;309;309;309	ENSP00000339918:D309V;ENSP00000319303:D76V;ENSP00000435838:D309V	ENSP00000319303:D76V	D	-	2	0	XRRA1	74294985	0.093000	0.21703	0.090000	0.20809	0.234000	0.25298	3.565000	0.53798	2.125000	0.65367	0.533000	0.62120	GAT	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384715.1		-	ENST00000340360.6	Missense_Mutation	SNP	11 : 74617337 - 74617337 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	293	51
SAMD14	201191	broad.mit.edu	37	17	48193388	48193388	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48193388C>T	ENST00000330175.4	-	5	883	c.566G>A	c.(565-567)cGc>cAc	p.R189H	SAMD14_ENST00000503131.1_Missense_Mutation_p.R189H|SAMD14_ENST00000503734.1_5'UTR	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	189										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						GAACTTTCGGCGAGTCTTCTT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	45	46			NA	NA	17		NA											NA				48193388		2203	4300	6503	SO:0001583	missense				CCDS11560.1, CCDS58562.1	17q21.33	2013-01-10				ENSG00000167100	201191	201191		Sterile alpha motif (SAM) domain containing	27312	protein-coding gene	gene with protein product					NA	8619474	Standard	NM_174920	NM_174920	NA	Approved	FLJ36890	uc002iqg.4	Q8IZD0		ENST00000330175.4:c.566G>A	17.37:g.48193388C>T	ENSP00000329144:p.Arg189His	NA	A5D8V1|Q8N2X0	37	CCDS58562.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323128	0.60634	.	.	ENSG00000167100	ENST00000330175;ENST00000285206;ENST00000503131	.	.	.	5.17	5.17	0.71159	.	0.100684	0.35407	N	0.003229	T	0.71937	0.3399	L	0.54323	1.7	0.35594	D	0.807347	D;D	0.89917	0.999;1.0	D;D	0.83275	0.912;0.996	T	0.79773	-0.1662	9	0.87932	D	0	-17.7595	15.5892	0.76512	0.0:1.0:0.0:0.0	.	189;189	Q8IZD0;Q8IZD0-2	SAM14_HUMAN;.	H	189;201;189	.	ENSP00000285206:R201H	R	-	2	0	SAMD14	45548387	1.000000	0.71417	0.995000	0.50966	0.258000	0.26162	2.982000	0.49337	2.417000	0.82017	0.313000	0.20887	CGC	SAMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366661.1		-	ENST00000330175.4	Missense_Mutation	SNP	17 : 48193388 - 48193388 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	288	49
C4orf51	646603	broad.mit.edu	37	4	146601532	146601532	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146601532G>A	ENST00000438731.1	+	1	177	c.177G>A	c.(175-177)aaG>aaA	p.K59K		NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	59										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						AACTGGACAAGTCCATGTGCA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	101	101			NA	NA	4		NA											NA				146601532		1954	4153	6107	SO:0001819	synonymous_variant				CCDS47140.1	4q31.21	2009-09-09			ENSG00000237136	ENSG00000237136	646603	646603			37264	protein-coding gene	gene with protein product					NA		Standard	NM_001080531	NM_001080531	NA	Approved		uc003ikk.3	C9J302	OTTHUMG00000161367	ENST00000438731.1:c.177G>A	4.37:g.146601532G>A		NA		37	CCDS47140.1	.	.	.	.	.	.	.	.	.	.	G	5.403	0.259618	0.10239	.	.	ENSG00000237136	ENST00000511965	.	.	.	6.02	-2.97	0.05530	.	.	.	.	.	T	0.18341	0.0440	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.27806	-1.0063	4	.	.	.	.	1.6016	0.02675	0.1441:0.2135:0.2632:0.3791	.	.	.	.	N	19	.	.	S	+	2	0	C4orf51	146820982	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-0.837000	0.04377	-0.094000	0.12374	0.655000	0.94253	AGT	C4orf51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding			+	ENST00000438731.1	Silent	SNP	4 : 146601532 - 146601532 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	335	61
TMC2	117532	broad.mit.edu	37	20	2597782	2597782	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2597782T>C	ENST00000358864.1	+	16	2020	c.2005T>C	c.(2005-2007)Tac>Cac	p.Y669H	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	669						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GACCTCCATGTACTTCCAGTG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	117	130			NA	NA	20		NA											NA				2597782		2203	4300	6503	SO:0001583	missense			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488	117532	117532			16527	protein-coding gene	gene with protein product		606707	transmembrane, cochlear expressed, 2	C20orf145	NA	11850618, 12906855	Standard		XM_005260660	NA	Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.2005T>C	20.37:g.2597782T>C	ENSP00000351732:p.Tyr669His	NA	Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	37	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	T	25.1	4.606491	0.87157	.	.	ENSG00000149488	ENST00000358864	T	0.79749	-1.3	5.35	5.35	0.76521	.	0.113958	0.64402	D	0.000008	D	0.89787	0.6816	M	0.82630	2.6	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.91210	0.4998	10	0.87932	D	0	-7.3629	13.5825	0.61911	0.0:0.0:0.0:1.0	.	669	Q8TDI7	TMC2_HUMAN	H	669	ENSP00000351732:Y669H	ENSP00000351732:Y669H	Y	+	1	0	TMC2	2545782	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.145000	0.66743	0.528000	0.53228	TAC	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077601.2		+	ENST00000358864.1	Missense_Mutation	SNP	20 : 2597782 - 2597782 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	397	77
OTOF	9381	broad.mit.edu	37	2	26724644	26724644	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26724644G>A	ENST00000272371.2	-	8	869	c.743C>T	c.(742-744)gCt>gTt	p.A248V	OTOF_ENST00000403946.3_Missense_Mutation_p.A248V	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	248	C2 1.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCCGCCCAGCACTTGGCTC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(102;732 1451 20652 24062 31372)							NA				0													91	81	84			NA	NA	2		NA											NA				26724644		2203	4300	6503	SO:0001583	missense			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155	9381	9381			8515	protein-coding gene	gene with protein product	fer-1-like family member 2	603681		DFNB9	NA	10192385, 18381613	Standard		NM_194248	NA	Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.743C>T	2.37:g.26724644G>A	ENSP00000272371:p.Ala248Val	NA	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	37	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248471	0.80024	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.80824	-1.42;-1.42	5.81	5.81	0.92471	C2 membrane targeting protein (1);	0.048531	0.85682	D	0.000000	T	0.78629	0.4313	L	0.47716	1.5	0.54753	D	0.999984	P	0.46395	0.877	B	0.43360	0.417	T	0.76421	-0.2965	10	0.30078	T	0.28	-14.7144	18.6464	0.91411	0.0:0.0:1.0:0.0	.	248	Q9HC10	OTOF_HUMAN	V	248	ENSP00000272371:A248V;ENSP00000385255:A248V	ENSP00000272371:A248V	A	-	2	0	OTOF	26578148	1.000000	0.71417	0.977000	0.42913	0.975000	0.68041	9.471000	0.97696	2.746000	0.94184	0.655000	0.94253	GCT	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214047.3		-	ENST00000272371.2	Missense_Mutation	SNP	2 : 26724644 - 26724644 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	370	51
FRMD4A	55691	broad.mit.edu	37	10	13699307	13699307	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13699307G>A	ENST00000357447.2	-	22	2650	c.2282C>T	c.(2281-2283)cCg>cTg	p.P761L	FRMD4A_ENST00000378503.1_Missense_Mutation_p.P761L|FRMD4A_ENST00000358621.4_Missense_Mutation_p.P746L	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	761						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CATCTGCGCCGGGTAGTAGTG	0.692		NA											G	1	5e-04	0.002	NA	2184	NA	0.9992	,	,	NA	3e-04	NA	NA	NA	7e-04	0.5431	EXOME	NA	NA	0.0013	SNP								NA				0													49	41	44			NA	NA	10		NA											NA				13699307		2203	4300	6503	SO:0001583	missense			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474	55691	55691			25491	protein-coding gene	gene with protein product			FERM domain containing 4	FRMD4	NA	10718198	Standard	NM_018027	NM_018027	NA	Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.2282C>T	10.37:g.13699307G>A	ENSP00000350032:p.Pro761Leu	NA	A7E2Y3|Q5T377	37	CCDS7101.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	19.54	3.847717	0.71603	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503	D;D;D	0.85773	-2.01;-2.03;-2.03	5.11	5.11	0.69529	.	0.047559	0.85682	D	0.000000	T	0.82213	0.4988	L	0.53249	1.67	0.80722	D	1	P	0.52316	0.952	B	0.39805	0.31	T	0.82301	-0.0525	10	0.31617	T	0.26	-25.4714	18.5337	0.91001	0.0:0.0:1.0:0.0	.	761	Q9P2Q2	FRM4A_HUMAN	L	746;761;761	ENSP00000351438:P746L;ENSP00000350032:P761L;ENSP00000367764:P761L	ENSP00000350032:P761L	P	-	2	0	FRMD4A	13739313	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	9.687000	0.98667	2.353000	0.79882	0.436000	0.28706	CCG	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046889.1		-	ENST00000357447.2	Missense_Mutation	SNP	10 : 13699307 - 13699307 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	142	24
LRIT3	345193	broad.mit.edu	37	4	110791482	110791482	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110791482A>G	ENST00000327908.3	+	4	1792	c.1028A>G	c.(1027-1029)gAc>gGc	p.D343G	LRIT3_ENST00000379920.3_Missense_Mutation_p.D481G|LRIT3_ENST00000594814.1_Missense_Mutation_p.D526G|LRIT3_ENST00000409621.2_Missense_Mutation_p.D343G			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	481	Ser-rich.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		GGTGGGAAGGACCTGCTGCTG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	125	129			NA	NA	4		NA											NA				110791482		2203	4300	6503	SO:0001583	missense			AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423	345193	345193		Immunoglobulin superfamily / I-set domain containing	24783	protein-coding gene	gene with protein product	fibronectin type III, immunoglobulin and leucine rich repeat domains 4	615004			NA		Standard	NM_198506	NM_198506	NA	Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000327908.3:c.1028A>G	4.37:g.110791482A>G	ENSP00000328222:p.Asp343Gly	NA	C9J1C2|Q6ZTG1	37		.	.	.	.	.	.	.	.	.	.	A	19.05	3.752055	0.69533	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.30714	1.52;1.52;1.52	5.16	5.16	0.70880	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.091310	0.85682	D	0.000000	T	0.55689	0.1936	M	0.74647	2.275	0.54753	D	0.999986	D;D	0.89917	0.999;1.0	D;D	0.74674	0.937;0.984	T	0.61342	-0.7082	10	0.87932	D	0	.	15.0075	0.71524	1.0:0.0:0.0:0.0	.	481;343	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	G	343;481;343	ENSP00000328222:D343G;ENSP00000369252:D481G;ENSP00000386734:D343G	ENSP00000328222:D343G	D	+	2	0	LRIT3	111010931	1.000000	0.71417	0.999000	0.59377	0.423000	0.31445	6.948000	0.75965	1.943000	0.56356	0.533000	0.62120	GAC	LRIT3-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000255064.1		+	ENST00000327908.3	Missense_Mutation	SNP	4 : 110791482 - 110791482 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	613	109
GLP2R	9340	broad.mit.edu	37	17	9764515	9764515	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9764515G>T	ENST00000262441.5	+	8	1498	c.985G>T	c.(985-987)Ggg>Tgg	p.G329W	GLP2R_ENST00000574745.1_Splice_Site_p.G149W	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	329					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	GGAGAACACAGGGTAGGTAAT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	132	134			NA	NA	17		NA											NA				9764515		2203	4300	6503	SO:0001630	splice_region_variant			AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325	9340	9340		GPCR / Class B : Glucagon receptors	4325	protein-coding gene	gene with protein product		603659			NA	9990065	Standard		NM_004246	NA	Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.986+1G>T	17.37:g.9764515G>T		NA	Q4VAT3	37	CCDS11150.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.037|5.037	0.192458|0.192458	0.09599|0.09599	.|.	.|.	ENSG00000065325|ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441|ENST00000458005	T|.	0.38560|.	1.13|.	5.24|5.24	3.17|3.17	0.36434|0.36434	GPCR, family 2-like (1);|.	0.433344|.	0.17499|.	N|.	0.172059|.	T|T	0.73598|0.73598	0.3607|0.3607	M|M	0.85373|0.85373	2.75|2.75	0.44395|0.44395	D|D	0.997307|0.997307	D|.	0.67145|.	0.996|.	D|.	0.72338|.	0.977|.	T|T	0.73040|0.73040	-0.4108|-0.4108	10|5	0.72032|.	D|.	0.01|.	.|.	8.9082|8.9082	0.35537|0.35537	0.0881:0.1486:0.7633:0.0|0.0881:0.1486:0.7633:0.0	.|.	329|.	O95838|.	GLP2R_HUMAN|.	W|H	329;304;329|181	ENSP00000262441:G329W|.	ENSP00000262441:G329W|.	G|Q	+|+	1|3	0|2	GLP2R|GLP2R	9705240|9705240	0.996000|0.996000	0.38824|0.38824	0.665000|0.665000	0.29768|0.29768	0.137000|0.137000	0.21094|0.21094	2.431000|2.431000	0.44775|0.44775	0.689000|0.689000	0.31550|0.31550	0.655000|0.655000	0.94253|0.94253	GGG|CAG	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252601.4	Missense_Mutation	+	ENST00000262441.5	Splice_Site	SNP	17 : 9764515 - 9764515 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	628	132
CECR2	27443	broad.mit.edu	37	22	18003201	18003201	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18003201C>T	ENST00000400585.2	+	9	961	c.523C>T	c.(523-525)Cgt>Tgt	p.R175C	CECR2_ENST00000400573.5_Missense_Mutation_p.R316C|CECR2_ENST00000342247.5_Missense_Mutation_p.R268C|CECR2_ENST00000262608.8_Missense_Mutation_p.R297C			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	338					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GGAAGAAGAGCGTCAGATTCT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	73	72			NA	NA	22		NA											NA				18003201		2058	4201	6259	SO:0001583	missense			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954	27443	27443			1840	protein-coding gene	gene with protein product		607576			NA	11381032	Standard	NM_031413	XM_006724077	NA	Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.523C>T	22.37:g.18003201C>T	ENSP00000383428:p.Arg175Cys	NA	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	37		.	.	.	.	.	.	.	.	.	.	C	20.5	4.008830	0.75046	.	.	ENSG00000099954	ENST00000342247;ENST00000400585;ENST00000400573;ENST00000262608	T;T;T;T	0.44083	0.93;1.55;1.56;1.17	5.84	5.84	0.93424	.	0.000000	0.51477	D	0.000097	T	0.62073	0.2398	M	0.64997	1.995	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.996;0.996;0.997;0.996	T	0.63274	-0.6674	10	0.87932	D	0	-22.3781	14.5723	0.68220	0.1463:0.8537:0.0:0.0	.	338;175;310;316	Q9BXF3;B7WPH3;Q9BXF3-2;E2QRE6	CECR2_HUMAN;.;.;.	C	268;175;316;297	ENSP00000341219:R268C;ENSP00000383428:R175C;ENSP00000383417:R316C;ENSP00000262608:R297C	ENSP00000262608:R297C	R	+	1	0	CECR2	16383201	0.920000	0.31207	0.762000	0.31397	0.862000	0.49288	1.218000	0.32467	2.764000	0.94973	0.650000	0.86243	CGT	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000316226.2		+	ENST00000400585.2	Missense_Mutation	SNP	22 : 18003201 - 18003201 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	67	14
ZNF106	64397	broad.mit.edu	37	15	42740566	42740566	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42740566C>A	ENST00000565611.1	-	2	634	c.325G>T	c.(325-327)Ggt>Tgt	p.G109C	ZNF106_ENST00000263805.4_Missense_Mutation_p.G924C|ZNF106_ENST00000565380.1_Missense_Mutation_p.G152C					zinc finger protein 106	NA											NA						GCCCTTTCACCTGTTCGGAGG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	177	178			NA	NA	15		NA											NA				42740566		2203	4299	6502	SO:0001583	missense			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994	64397	64397		Zinc fingers, C2H2-type	12886	protein-coding gene	gene with protein product	SH3-domain binding protein 3		zinc finger protein 106 homolog (mouse)	ZFP106	NA		Standard	NM_022473	XM_005254591	NA	Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000565611.1:c.325G>T	15.37:g.42740566C>A	ENSP00000457637:p.Gly109Cys	NA		37		.	.	.	.	.	.	.	.	.	.	C	12.52	1.963628	0.34659	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	T	0.44083	0.93	5.23	3.27	0.37495	.	0.695263	0.13710	N	0.368184	T	0.32615	0.0835	L	0.34521	1.04	0.28553	N	0.911545	B;D;B	0.57257	0.001;0.979;0.001	B;P;B	0.46362	0.003;0.514;0.003	T	0.26326	-1.0106	10	0.72032	D	0.01	-0.2274	3.9365	0.09309	0.1851:0.4903:0.2431:0.0816	.	152;924;152	E9PE29;Q9H2Y7;B4DZ40	.;ZF106_HUMAN;.	C	924;152	ENSP00000263805:G924C	ENSP00000263805:G924C	G	-	1	0	ZFP106	40527858	0.001000	0.12720	0.971000	0.41717	0.925000	0.55904	0.321000	0.19558	1.386000	0.46466	0.655000	0.94253	GGT	ZNF106-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000422589.2		-	ENST00000565611.1	Missense_Mutation	SNP	15 : 42740566 - 42740566 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1051	184
MUC16	94025	broad.mit.edu	37	19	9048837	9048837	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9048837C>A	ENST00000397910.4	-	5	32997	c.32794G>T	c.(32794-32796)Gga>Tga	p.G10932*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10934	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						GTCACCACTCCTGGTACCCCA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	105	108			NA	NA	19		NA											NA				9048837		1909	4118	6027	SO:0001587	stop_gained			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.32794G>T	19.37:g.9048837C>A	ENSP00000381008:p.Gly10932*	NA	Q6ZQW5|Q96RK2	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	60	50.752531	0.99988	.	.	ENSG00000181143	ENST00000397910	.	.	.	3.7	1.49	0.22878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.7297	0.18032	0.0:0.7426:0.0:0.2574	.	.	.	.	X	10932	.	ENSP00000381008:G10932X	G	-	1	0	MUC16	8909837	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.870000	0.04228	0.476000	0.27440	0.586000	0.80456	GGA	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Nonsense_Mutation	SNP	19 : 9048837 - 9048837 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	596	119
SYNM	23336	broad.mit.edu	37	15	99672987	99672987	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99672987C>T	ENST00000560674.1	+	5	3097	c.2628C>T	c.(2626-2628)agC>agT	p.S876S	SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Silent_p.S1161S|SYNM_ENST00000336292.6_Silent_p.S1473S			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1474	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						CGATCCGCAGCCGGACACAGG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(125;1071 1762 21750 40003 40381)							NA				0													159	168	165			NA	NA	15		NA											NA				99672987		2053	4183	6236	SO:0001819	synonymous_variant			AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253	23336	23336		A-kinase anchor proteins, Intermediate filaments type IV	24466	protein-coding gene	gene with protein product	synemin alpha, synemin beta	606087	desmuslin	DMN	NA	11737198, 11454237	Standard	NM_145728	NM_145728	NA	Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.2628C>T	15.37:g.99672987C>T		NA	A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	37																																																																																				SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000415698.2		+	ENST00000560674.1	Silent	SNP	15 : 99672987 - 99672987 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1095	173
FAM69B	138311	broad.mit.edu	37	9	139617731	139617731	+	Silent	SNP	G	G	A	rs112780986		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139617731G>A	ENST00000371691.1	+	3	1639	c.540G>A	c.(538-540)gcG>gcA	p.A180A	SNHG7_ENST00000414282.1_RNA|FAM69B_ENST00000371692.4_Silent_p.A267A			Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	267						endoplasmic reticulum membrane|integral to membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		TGGGGCCTGCGTGGCCTTGGC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4373		0,1,2186	24	30	28		801	-10.6	0.1	9	dbSNP_132	28	0,8572		0,0,4286	no	coding-synonymous	FAM69B	NM_152421.3		0,1,6472	AA,AG,GG	NA	0.0,0.0229,0.0077		267/432	139617731	1,12945	2187	4286	6473	SO:0001819	synonymous_variant				CCDS7004.1	9q34.3	2012-08-03			ENSG00000165716	ENSG00000165716	138311	138311			28290	protein-coding gene	gene with protein product		614543			NA	21334309	Standard	NM_152421	NM_152421	NA	Approved	MGC20262, C9orf136	uc004cik.3	Q5VUD6	OTTHUMG00000020940	ENST00000371691.1:c.540G>A	9.37:g.139617731G>A		NA	Q8N5N0|Q8WYU5	37																																																																																				FAM69B-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000055103.1		+	ENST00000371691.1	Silent	SNP	9 : 139617731 - 139617731 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	414	27
CHST6	4166	broad.mit.edu	37	16	75513648	75513648	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75513648A>T	ENST00000332272.4	-	3	258	c.79T>A	c.(79-81)Tcc>Acc	p.S27T	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.S27T	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	27					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CCTGGCCGGGAAACCAGAAAG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	16	15			NA	NA	16		NA											NA				75513648		2189	4294	6483	SO:0001583	missense			AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196	4166	4166		Sulfotransferases, membrane-bound	6938	protein-coding gene	gene with protein product		605294		MCDC1	NA	8644739, 11017086	Standard	NM_021615	NM_021615	NA	Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.79T>A	16.37:g.75513648A>T	ENSP00000328983:p.Ser27Thr	NA	D3DUK3	37	CCDS10918.1	.	.	.	.	.	.	.	.	.	.	A	10.40	1.339809	0.24339	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	D;D	0.96334	-3.98;-3.98	5.01	2.62	0.31277	.	1.219520	0.06151	N	0.674135	D	0.91841	0.7418	L	0.29908	0.895	0.33931	D	0.642091	B	0.14438	0.01	B	0.08055	0.003	D	0.85804	0.1375	10	0.18276	T	0.48	.	7.2899	0.26360	0.7159:0.144:0.0:0.1401	.	27	Q9GZX3	CHST6_HUMAN	T	27	ENSP00000328983:S27T;ENSP00000375079:S27T	ENSP00000328983:S27T	S	-	1	0	CHST6	74071149	0.375000	0.25089	0.997000	0.53966	0.293000	0.27360	1.087000	0.30865	1.871000	0.54225	0.482000	0.46254	TCC	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000435478.1		-	ENST00000332272.4	Missense_Mutation	SNP	16 : 75513648 - 75513648 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	109	28
HECW1	23072	broad.mit.edu	37	7	43484963	43484963	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43484963C>T	ENST00000453890.1	+	10	2516	c.2192C>T	c.(2191-2193)aCg>aTg	p.T731M	HECW1_ENST00000395891.2_Missense_Mutation_p.T731M			Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	731					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TCCGAGAGCACGGTCTTCTCC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	76	74			NA	NA	7		NA											NA				43484963		2134	4233	6367	SO:0001583	missense			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746	23072	23072			22195	protein-coding gene	gene with protein product		610384			NA	12690205, 14684739	Standard	NM_015052	XM_005249665	NA	Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000453890.1:c.2192C>T	7.37:g.43484963C>T	ENSP00000407774:p.Thr731Met	NA	A7E2X0|A8MYS3|O15036|Q9HCC7	37		.	.	.	.	.	.	.	.	.	.	C	24.5	4.543382	0.86022	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.46819	1.3;0.86	4.62	4.62	0.57501	.	0.419197	0.26812	N	0.022366	T	0.60495	0.2273	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.985	T	0.63844	-0.6545	10	0.56958	D	0.05	.	17.4549	0.87604	0.0:1.0:0.0:0.0	.	731;731	B4DH42;Q76N89	.;HECW1_HUMAN	M	731	ENSP00000379228:T731M;ENSP00000407774:T731M	ENSP00000265522:T731M	T	+	2	0	HECW1	43451488	1.000000	0.71417	0.995000	0.50966	0.965000	0.64279	7.567000	0.82357	2.106000	0.64143	0.591000	0.81541	ACG	HECW1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000338775.1		+	ENST00000453890.1	Missense_Mutation	SNP	7 : 43484963 - 43484963 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	714	30
MYO15A	51168	broad.mit.edu	37	17	18024987	18024987	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18024987C>T	ENST00000205890.5	+	2	3211	c.2873C>T	c.(2872-2874)cCt>cTt	p.P958L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	958	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGGCCACCCCCTGTGCCGGAA	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	13	13			NA	NA	17		NA											NA				18024987		1870	4056	5926	SO:0001583	missense			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536	51168	51168		Myosins / Myosin superfamily : Class XV	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15	NA	9603736	Standard	NM_016239	NM_016239	NA	Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.2873C>T	17.37:g.18024987C>T	ENSP00000205890:p.Pro958Leu	NA		37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	c	8.837	0.941276	0.18281	.	.	ENSG00000091536	ENST00000205890	D	0.87809	-2.3	4.49	2.44	0.29823	.	.	.	.	.	T	0.78175	0.4242	L	0.29908	0.895	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.66952	-0.5793	9	0.72032	D	0.01	.	5.4677	0.16652	0.1973:0.6959:0.0:0.1068	.	958	Q9UKN7	MYO15_HUMAN	L	958	ENSP00000205890:P958L	ENSP00000205890:P958L	P	+	2	0	MYO15A	17965712	0.001000	0.12720	0.007000	0.13788	0.257000	0.26127	1.014000	0.29950	0.324000	0.23333	0.462000	0.41574	CCT	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132048.1		+	ENST00000205890.5	Missense_Mutation	SNP	17 : 18024987 - 18024987 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	151	23
ZNF329	79673	broad.mit.edu	37	19	58639933	58639933	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58639933T>G	ENST00000598312.1	-	4	1171	c.938A>C	c.(937-939)aAa>aCa	p.K313T	ZNF329_ENST00000358067.4_Missense_Mutation_p.K313T	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TCTATATGGTTTTTCCCCTGT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	133	134			NA	NA	19		NA											NA				58639933		2203	4300	6503	SO:0001583	missense			AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894	79673	79673		Zinc fingers, C2H2-type	14209	protein-coding gene	gene with protein product					NA		Standard	NM_024620	XM_006723381	NA	Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.938A>C	19.37:g.58639933T>G	ENSP00000470008:p.Lys313Thr	NA	B3KR32|Q9H9R7	37	CCDS12972.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.654379	0.47467	.	.	ENSG00000181894	ENST00000358067;ENST00000500161	T;T	0.24908	1.83;1.83	4.01	4.01	0.46588	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49305	D	0.000146	T	0.42108	0.1188	M	0.76170	2.325	0.46927	D	0.999254	D	0.59357	0.985	P	0.59171	0.853	T	0.39014	-0.9634	10	0.87932	D	0	-22.8886	7.6583	0.28388	0.0:0.0986:0.0:0.9014	.	313	Q86UD4	ZN329_HUMAN	T	313	ENSP00000350773:K313T;ENSP00000439527:K313T	ENSP00000350773:K313T	K	-	2	0	ZNF329	63331745	0.294000	0.24380	0.999000	0.59377	0.886000	0.51366	0.900000	0.28431	2.055000	0.61198	0.533000	0.62120	AAA	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466724.1		-	ENST00000598312.1	Missense_Mutation	SNP	19 : 58639933 - 58639933 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	644	135
UCN2	90226	broad.mit.edu	37	3	48600466	48600466	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48600466C>T	ENST00000273610.3	-	2	174	c.92G>A	c.(91-93)cGc>cAc	p.R31H		NM_033199.3	NP_149976.1	Q96RP3	UCN2_HUMAN	urocortin 2	31					cAMP biosynthetic process|digestion|response to stress		hormone activity|hormone binding				NA				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ATTCTGAGGGCGGAGCTGGAA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	41	42			NA	NA	3		NA											NA				48600466		2203	4300	6503	SO:0001583	missense			AF320560	CCDS2772.1	3p21.3	2013-02-28			ENSG00000145040	ENSG00000145040	90226	90226		Endogenous ligands	18414	protein-coding gene	gene with protein product	prepro-urocortin 2	605902			NA	11329063	Standard	NM_033199	NM_033199	NA	Approved	UCNI, SRP, URP, UCN-II	uc003cty.1	Q96RP3	OTTHUMG00000133533	ENST00000273610.3:c.92G>A	3.37:g.48600466C>T	ENSP00000273610:p.Arg31His	NA	Q9BUG0	37	CCDS2772.1	.	.	.	.	.	.	.	.	.	.	C	9.062	0.994809	0.19043	.	.	ENSG00000145040	ENST00000273610	.	.	.	5.28	-1.96	0.07525	.	1.516670	0.04388	N	0.361943	T	0.16811	0.0404	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16158	-1.0412	9	0.46703	T	0.11	-14.0371	1.3254	0.02124	0.3784:0.1599:0.3189:0.1429	.	31	Q96RP3	UCN2_HUMAN	H	31	.	ENSP00000273610:R31H	R	-	2	0	UCN2	48575470	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.038000	0.13862	-0.329000	0.08527	-1.104000	0.02111	CGC	UCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257510.1		-	ENST00000273610.3	Missense_Mutation	SNP	3 : 48600466 - 48600466 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	112	20
EPHA2	1969	broad.mit.edu	37	1	16464553	16464553	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16464553G>T	ENST00000358432.5	-	5	1261	c.1107C>A	c.(1105-1107)tgC>tgA	p.C369*		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	369	Fibronectin type-III 1.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	ACTCGGGCCAGCACTGTTCGC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	42	44			NA	NA	1		NA											NA				16464553		2203	4300	6503	SO:0001587	stop_gained			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	1969	1969	2.7.10.1	EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3386	protein-coding gene	gene with protein product		176946	EphA2	ECK	NA	9119409	Standard	NM_004431	NM_004431	NA	Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1107C>A	1.37:g.16464553G>T	ENSP00000351209:p.Cys369*	NA	Q8N3Z2	37	CCDS169.1	.	.	.	.	.	.	.	.	.	.	G	36	5.686181	0.96784	.	.	ENSG00000142627	ENST00000358432	.	.	.	4.97	4.06	0.47325	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7751	0.51981	0.0878:0.0:0.9122:0.0	.	.	.	.	X	369	.	ENSP00000351209:C369X	C	-	3	2	EPHA2	16337140	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	3.165000	0.50778	1.239000	0.43787	0.561000	0.74099	TGC	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026322.1		-	ENST00000358432.5	Nonsense_Mutation	SNP	1 : 16464553 - 16464553 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	183	35
SLX4	84464	broad.mit.edu	37	16	3640331	3640331	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3640331C>T	ENST00000294008.3	-	12	3948	c.3308G>A	c.(3307-3309)cGt>cAt	p.R1103H		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1103	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CACGGACCGACGCTCTTTGCC	0.532		NA						Direct reversal of damage						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	111	113			NA	NA	16		NA											NA				3640331		2197	4300	6497	SO:0001583	missense			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827	84464	84464		Fanconi anemia, complementation groups, BTB/POZ domain containing	23845	protein-coding gene	gene with protein product	Fanconi anemia, complementation group P	613278	BTB (POZ) domain containing 12, SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)	BTBD12	NA	11347906, 19595721	Standard	NM_032444	NM_032444	NA	Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.3308G>A	16.37:g.3640331C>T	ENSP00000294008:p.Arg1103His	NA	Q69YT8|Q8TF15|Q96JP1	37	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	6.582	0.475802	0.12521	.	.	ENSG00000188827	ENST00000294008	T	0.18502	2.21	5.32	-1.72	0.08107	.	1.886240	0.01875	N	0.037469	T	0.07007	0.0178	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.21484	-1.0244	10	0.40728	T	0.16	.	0.6741	0.00864	0.2592:0.3307:0.1152:0.2949	.	1103	Q8IY92	SLX4_HUMAN	H	1103	ENSP00000294008:R1103H	ENSP00000294008:R1103H	R	-	2	0	SLX4	3580332	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.256000	0.08757	-0.591000	0.05859	0.655000	0.94253	CGT	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157301.3		-	ENST00000294008.3	Missense_Mutation	SNP	16 : 3640331 - 3640331 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	901	156
TAOK1	57551	broad.mit.edu	37	17	27849349	27849349	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27849349C>T	ENST00000261716.3	+	17	2479	c.1960C>T	c.(1960-1962)Cga>Tga	p.R654*	TAOK1_ENST00000536202.1_Intron	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	654					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CATGCTACTCCGACAGCATGA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	85	88			NA	NA	17		NA											NA				27849349		2203	4300	6503	SO:0001587	stop_gained			AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551	57551	57551			29259	protein-coding gene	gene with protein product		610266			NA	10718198, 14517247	Standard	NM_020791	NM_020791	NA	Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.1960C>T	17.37:g.27849349C>T	ENSP00000261716:p.Arg654*	NA	A2RUT8|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	37	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	C	42	9.535808	0.99198	.	.	ENSG00000160551	ENST00000261716	.	.	.	5.96	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3638	0.83307	0.133:0.867:0.0:0.0	.	.	.	.	X	654	.	ENSP00000261716:R654X	R	+	1	2	TAOK1	24873475	1.000000	0.71417	0.998000	0.56505	0.145000	0.21501	3.231000	0.51294	1.486000	0.48398	0.643000	0.83706	CGA	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447790.1		+	ENST00000261716.3	Nonsense_Mutation	SNP	17 : 27849349 - 27849349 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	458	71
HGD	3081	broad.mit.edu	37	3	120365164	120365164	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120365164A>G	ENST00000283871.5	-	9	1058	c.599T>C	c.(598-600)aTc>aCc	p.I200T		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	200					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		GACCTCCAAGATGTAGCCCCT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	123	127			NA	NA	3		NA											NA				120365164		2203	4300	6503	SO:0001583	missense				CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	3081	3081	1.13.11.5		4892	protein-coding gene	gene with protein product	homogentisate oxidase	607474	homogentisate 1,2-dioxygenase (homogentisate oxidase)	AKU	NA	8188241	Standard		NM_000187	NA	Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.599T>C	3.37:g.120365164A>G	ENSP00000283871:p.Ile200Thr	NA	B2R8Z0	37	CCDS3000.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.3|20.3	3.968412|3.968412	0.74131|0.74131	.|.	.|.	ENSG00000113924|ENSG00000113924	ENST00000283871|ENST00000475447;ENST00000494453	D|.	0.99259|.	-5.64|.	5.73|5.73	5.73|5.73	0.89815|0.89815	Cupin, RmlC-type (1);|.	0.155094|.	0.56097|.	D|.	0.000028|.	T|T	0.80215|0.80215	0.4582|0.4582	M|M	0.89414|0.89414	3.03|3.03	0.58432|0.58432	D|D	0.999999|0.999999	P|.	0.50443|.	0.935|.	D|.	0.71414|.	0.973|.	D|D	0.83610|0.83610	0.0133|0.0133	10|5	0.87932|.	D|.	0|.	-4.2769|-4.2769	13.9693|13.9693	0.64230|0.64230	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	200|.	Q93099|.	HGD_HUMAN|.	T|P	200|44;7	ENSP00000283871:I200T|.	ENSP00000283871:I200T|.	I|S	-|-	2|1	0|0	HGD|HGD	121847854|121847854	1.000000|1.000000	0.71417|0.71417	0.949000|0.949000	0.38748|0.38748	0.763000|0.763000	0.43281|0.43281	8.353000|8.353000	0.90077|0.90077	2.181000|2.181000	0.69327|0.69327	0.533000|0.533000	0.62120|0.62120	ATC|TCT	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355410.1		-	ENST00000283871.5	Missense_Mutation	SNP	3 : 120365164 - 120365164 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	72
CCDC89	220388	broad.mit.edu	37	11	85397127	85397127	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85397127G>A	ENST00000316398.3	-	1	193	c.47C>T	c.(46-48)aCc>aTc	p.T16I		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	16						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AGGGGGCGGGGTGTCCATCCT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	70	69			NA	NA	11		NA											NA				85397127		2203	4299	6502	SO:0001583	missense			AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071	220388	220388			26762	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152723	NM_152723	NA	Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.47C>T	11.37:g.85397127G>A	ENSP00000320649:p.Thr16Ile	NA		37	CCDS8270.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.796267	0.31777	.	.	ENSG00000179071	ENST00000316398	.	.	.	5.61	3.75	0.43078	.	0.411501	0.17492	N	0.172313	T	0.43831	0.1265	L	0.57536	1.79	0.22552	N	0.998991	B	0.15473	0.013	B	0.19148	0.024	T	0.30208	-0.9986	8	.	.	.	-2.6236	12.1409	0.53996	0.1409:0.0:0.8591:0.0	.	16	Q8N998	CCD89_HUMAN	I	16	.	.	T	-	2	0	CCDC89	85074775	0.015000	0.18098	0.566000	0.28421	0.177000	0.22998	1.749000	0.38319	0.736000	0.32559	-0.136000	0.14681	ACC	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392182.1		-	ENST00000316398.3	Missense_Mutation	SNP	11 : 85397127 - 85397127 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	475	15
B4GALT5	9334	broad.mit.edu	37	20	48259054	48259054	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:48259054G>T	ENST00000371711.4	-	5	744	c.557C>A	c.(556-558)cCc>cAc	p.P186H		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	186					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			CTGGAGCATGGGAAGCAGGTG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	98	101			NA	NA	20		NA											NA				48259054		2203	4300	6503	SO:0001583	missense			AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470	9334	9334		Beta 4-glycosyltransferases	928	protein-coding gene	gene with protein product	beta4-GalT IV	604016			NA	9597550, 9435216	Standard	NM_004776	NM_004776	NA	Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.557C>A	20.37:g.48259054G>T	ENSP00000360776:p.Pro186His	NA	E1P625|Q2M394|Q9UJQ8	37	CCDS13420.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820244	0.90873	.	.	ENSG00000158470	ENST00000371711	T	0.37058	1.22	5.78	4.84	0.62591	.	0.046700	0.85682	D	0.000000	T	0.66906	0.2837	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75468	-0.3307	10	0.87932	D	0	-23.4875	14.7944	0.69868	0.0688:0.0:0.9312:0.0	.	186	O43286	B4GT5_HUMAN	H	186	ENSP00000360776:P186H	ENSP00000360776:P186H	P	-	2	0	B4GALT5	47692461	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	1.453000	0.47775	0.650000	0.86243	CCC	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080543.3		-	ENST00000371711.4	Missense_Mutation	SNP	20 : 48259054 - 48259054 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	325	49
PIGQ	9091	broad.mit.edu	37	16	633554	633554	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:633554G>A	ENST00000026218.5	+	10	2291	c.2203G>A	c.(2203-2205)Gtc>Atc	p.V735I	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	735					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GCTGACCCCCGTCCCCAGCGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	39	38			NA	NA	16		NA											NA				633554		2200	4300	6500	SO:0001583	missense			AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541	9091	9091		Phosphatidylinositol glycan anchor biosynthesis	14135	protein-coding gene	gene with protein product		605754	phosphatidylinositol glycan, class Q		NA	9463366, 9729469	Standard	NM_004204	NM_004204	NA	Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.2203G>A	16.37:g.633554G>A	ENSP00000026218:p.Val735Ile	NA	A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	37	CCDS10411.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689420	0.29962	.	.	ENSG00000007541	ENST00000026218	T	0.20881	2.04	3.3	-6.6	0.01824	.	.	.	.	.	T	0.05547	0.0146	N	0.08118	0	0.09310	N	0.999999	P;B	0.47677	0.899;0.13	B;B	0.34824	0.19;0.022	T	0.28554	-1.0040	8	.	.	.	.	2.0104	0.03486	0.1858:0.2673:0.397:0.1499	.	305;735	B3KRR7;Q9BRB3	.;PIGQ_HUMAN	I	735	ENSP00000026218:V735I	.	V	+	1	0	PIGQ	573555	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.619000	0.02048	-1.407000	0.02043	0.449000	0.29647	GTC	PIGQ-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239270.2		+	ENST00000026218.5	Missense_Mutation	SNP	16 : 633554 - 633554 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	479	40
CEP350	9857	broad.mit.edu	37	1	180022124	180022124	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180022124A>G	ENST00000367607.3	+	23	5230	c.4812A>G	c.(4810-4812)acA>acG	p.T1604T		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1604						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CTATTGCAACAGAATATTCTC	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	63	62			NA	NA	1		NA											NA				180022124		2203	4300	6503	SO:0001819	synonymous_variant			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837	9857	9857			24238	protein-coding gene	gene with protein product	centrosome associated protein 350				NA	16314388, 15615782	Standard	NM_014810	NM_014810	NA	Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.4812A>G	1.37:g.180022124A>G		NA	O75068|Q8TDK3|Q8WY20	37	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	A	0.266	-0.996455	0.02145	.	.	ENSG00000135837	ENST00000418229	.	.	.	5.62	3.13	0.36017	.	.	.	.	.	T	0.56156	0.1966	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51332	-0.8719	4	.	.	.	.	7.3946	0.26929	0.6782:0.1222:0.0:0.1995	.	.	.	.	G	244	.	.	R	+	1	2	CEP350	178288747	0.992000	0.36948	1.000000	0.80357	0.039000	0.13416	0.374000	0.20501	1.035000	0.39972	-0.323000	0.08544	AGA	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085315.2		+	ENST00000367607.3	Silent	SNP	1 : 180022124 - 180022124 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	45
KRT74	121391	broad.mit.edu	37	12	52964522	52964522	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52964522C>A	ENST00000549343.1	-	5	977	c.939G>T	c.(937-939)gaG>gaT	p.E313D	KRT74_ENST00000305620.2_Missense_Mutation_p.E313D			Q7RTS7	K2C74_HUMAN	keratin 74	313	Coil 2.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GCATGCGGACCTCAGCGATGA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	99	109			NA	NA	12		NA											NA				52964522		2203	4300	6503	SO:0001583	missense			BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484	121391	121391		-, Intermediate filaments type II, keratins (basic)	28929	protein-coding gene	gene with protein product		608248			NA	12648212, 16831889	Standard	NM_175053	NM_175053	NA	Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000549343.1:c.939G>T	12.37:g.52964522C>A	ENSP00000447447:p.Glu313Asp	NA	B5MD61|Q86Y45	37		.	.	.	.	.	.	.	.	.	.	C	9.392	1.075854	0.20227	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	D;D	0.90133	-2.62;-2.62	4.49	2.61	0.31194	Filament (1);	0.226552	0.22688	N	0.056853	D	0.84474	0.5480	L	0.53780	1.695	0.26570	N	0.973584	B	0.18610	0.029	B	0.22880	0.042	T	0.75297	-0.3367	10	0.62326	D	0.03	.	0.5856	0.00719	0.2376:0.3655:0.1423:0.2546	.	313	Q7RTS7	K2C74_HUMAN	D	313	ENSP00000447447:E313D;ENSP00000307240:E313D	ENSP00000307240:E313D	E	-	3	2	KRT74	51250789	0.008000	0.16893	0.937000	0.37676	0.061000	0.15899	-0.982000	0.03762	1.174000	0.42811	0.655000	0.94253	GAG	KRT74-003	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000405323.1		-	ENST00000549343.1	Missense_Mutation	SNP	12 : 52964522 - 52964522 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	284	10
BAG6	7917	broad.mit.edu	37	6	31609612	31609612	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31609612G>A	ENST00000211379.5	-	16	2632	c.2338C>T	c.(2338-2340)Cga>Tga	p.R780*	BAG6_ENST00000362049.6_Nonsense_Mutation_p.R780*|BAG6_ENST00000375976.4_Nonsense_Mutation_p.R780*|BAG6_ENST00000439687.2_Nonsense_Mutation_p.R654*|BAG6_ENST00000375964.6_Nonsense_Mutation_p.R786*|BAG6_ENST00000404765.2_Nonsense_Mutation_p.R816*	NM_080702.2	NP_542433.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	786					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						AAGAAGGATCGCAGCTGGGGC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	110	105			NA	NA	6		NA											NA				31609612		1510	2709	4219	SO:0001587	stop_gained			M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463	7917	7917			13919	protein-coding gene	gene with protein product		142590	HLA-B associated transcript 3	BAT3	NA	2156268	Standard	NM_080703	NM_004639	NA	Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000211379.5:c.2338C>T	6.37:g.31609612G>A	ENSP00000211379:p.Arg780*	NA	A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	37	CCDS4709.1	.	.	.	.	.	.	.	.	.	.	G	39	7.478227	0.98309	.	.	ENSG00000204463	ENST00000375976;ENST00000375964;ENST00000211379;ENST00000404765;ENST00000439687;ENST00000362049	.	.	.	5.58	5.58	0.84498	.	0.558485	0.17189	N	0.183569	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.9859	0.53147	0.0:0.0:0.7226:0.2774	.	.	.	.	X	780;786;780;816;654;780	.	ENSP00000211379:R780X	R	-	1	2	BAG6	31717591	0.291000	0.24352	0.998000	0.56505	0.969000	0.65631	0.977000	0.29475	2.649000	0.89929	0.650000	0.86243	CGA	BAG6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076322.3		-	ENST00000211379.5	Nonsense_Mutation	SNP	6 : 31609612 - 31609612 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	759	129
RALGAPA1	253959	broad.mit.edu	37	14	36154173	36154173	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36154173G>T	ENST00000382366.3	-	20	2875	c.2777C>A	c.(2776-2778)tCt>tAt	p.S926Y	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.S913Y|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.S913Y|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.S960Y	NM_001283043.1	NP_001269972.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	913					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGCGCTGAAAGAATCCGAATG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	47	47			NA	NA	14		NA											NA				36154173		2203	4300	6503	SO:0001583	missense			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373	253959	253959			17770	protein-coding gene	gene with protein product	tuberin-like protein 1, GAP-related interacting protein to E12	608884	GTPase activating RANGAP domain-like 1, GTPase activating Rap/RanGAP domain-like 1	GARNL1	NA	19520869	Standard	XM_210022	NM_014990	NA	Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000382366.3:c.2777C>A	14.37:g.36154173G>T	ENSP00000371803:p.Ser926Tyr	NA	A6NMA4|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	37		.	.	.	.	.	.	.	.	.	.	G	25.0	4.589901	0.86851	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	D;D;D;D;D	0.95035	-3.54;-3.54;-3.59;-3.59;-3.59	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.95815	0.8638	L	0.32530	0.975	0.58432	D	0.999995	D;D;D;D;D	0.76494	0.999;0.998;0.999;0.999;0.996	D;D;D;D;P	0.87578	0.997;0.991;0.998;0.996;0.896	D	0.95649	0.8705	10	0.54805	T	0.06	-15.9621	20.3593	0.98849	0.0:0.0:1.0:0.0	.	960;926;960;913;913	Q6GYQ0-6;B9EK38;Q6GYQ0-3;Q6GYQ0-2;Q6GYQ0	.;.;.;.;RGPA1_HUMAN	Y	913;913;913;960;926;960	ENSP00000374348:S913Y;ENSP00000302647:S913Y;ENSP00000258840:S960Y;ENSP00000371803:S926Y;ENSP00000451877:S960Y	ENSP00000258840:S960Y	S	-	2	0	RALGAPA1	35223924	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.229000	0.95273	2.822000	0.97130	0.557000	0.71058	TCT	RALGAPA1-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000409830.1		-	ENST00000382366.3	Missense_Mutation	SNP	14 : 36154173 - 36154173 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	164	27
SYT6	148281	broad.mit.edu	37	1	114682402	114682402	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114682402G>A	ENST00000609117.1	-	2	395	c.92C>T	c.(91-93)gCg>gTg	p.A31V	SYT6_ENST00000393296.1_Missense_Mutation_p.A116V|SYT6_ENST00000607941.1_Missense_Mutation_p.A31V|SYT6_ENST00000369547.1_Missense_Mutation_p.A31V|SYT6_ENST00000610222.1_Missense_Mutation_p.A116V			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	NA					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGCTTGTCCGCCATGTTGCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	102	100			NA	NA	1		NA											NA				114682402		2203	4300	6503	SO:0001583	missense				CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207	148281	148281		Synaptotagmins	18638	protein-coding gene	gene with protein product		607718			NA	11543631	Standard	NM_205848	NM_205848	NA	Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000609117.1:c.92C>T	1.37:g.114682402G>A	ENSP00000477344:p.Ala31Val	NA	B1AMB8|B3KPK1	37	CCDS871.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852456	0.71719	.	.	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545;ENST00000425037;ENST00000447981	T;T;T;T;T;T	0.58940	0.32;0.3;0.32;0.3;1.44;0.85	5.67	5.67	0.87782	.	0.054196	0.85682	D	0.000000	T	0.42966	0.1226	L	0.51422	1.61	0.80722	D	1	B	0.19935	0.04	B	0.14578	0.011	T	0.28459	-1.0043	10	0.36615	T	0.2	.	19.7706	0.96363	0.0:0.0:1.0:0.0	.	116	Q5T7P8	SYT6_HUMAN	V	31;116;31;116;31;31	ENSP00000358560:A31V;ENSP00000376974:A116V;ENSP00000358559:A31V;ENSP00000358558:A116V;ENSP00000412443:A31V;ENSP00000389266:A31V	ENSP00000358558:A116V	A	-	2	0	SYT6	114483925	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	8.005000	0.88553	2.697000	0.92050	0.655000	0.94253	GCG	SYT6-007	KNOWN	alternative_5_UTR|NMD_exception|not_organism_supported|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000471583.1		-	ENST00000609117.1	Missense_Mutation	SNP	1 : 114682402 - 114682402 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	798	84
A2ML1	144568	broad.mit.edu	37	12	9020513	9020513	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9020513G>T	ENST00000299698.7	+	30	3973	c.3793G>T	c.(3793-3795)Gtt>Ttt	p.V1265F	A2ML1_ENST00000539547.1_Missense_Mutation_p.V774F	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	1109						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GATCAACCTGGTTGTAAAATC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	118	121			NA	NA	12		NA											NA				9020513		1951	4132	6083	SO:0001583	missense			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535	144568	144568			23336	protein-coding gene	gene with protein product		610627	C3 and PZP-like, alpha-2-macroglobulin domain containing 9	CPAMD9	NA	16298998	Standard	NM_144670	NM_144670	NA	Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.3793G>T	12.37:g.9020513G>T	ENSP00000299698:p.Val1265Phe	NA		37	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311419	0.23821	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.31769	1.48;1.6;2.14	3.63	1.79	0.24919	.	1.178110	0.06631	N	0.759227	T	0.28366	0.0701	L	0.58810	1.83	0.24162	N	0.995651	P	0.35944	0.529	B	0.32022	0.139	T	0.30416	-0.9979	10	0.66056	D	0.02	.	5.4362	0.16482	0.4473:0.0:0.5527:0.0	.	1265	A8K2U0	A2ML1_HUMAN	F	1265;1265;815;774	ENSP00000299698:V1265F;ENSP00000443174:V815F;ENSP00000438292:V774F	ENSP00000299698:V1265F	V	+	1	0	A2ML1	8911780	0.908000	0.30866	0.144000	0.22314	0.527000	0.34593	1.735000	0.38176	0.517000	0.28361	0.561000	0.74099	GTT	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250304.3		+	ENST00000299698.7	Missense_Mutation	SNP	12 : 9020513 - 9020513 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	439	77
VEPH1	79674	broad.mit.edu	37	3	157099043	157099043	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157099043G>A	ENST00000362010.2	-	7	1336	c.1029C>T	c.(1027-1029)ggC>ggT	p.G343G	VEPH1_ENST00000392832.2_Silent_p.G343G|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392833.2_Silent_p.G343G|VEPH1_ENST00000543418.1_Silent_p.G343G	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	343						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TGCTCTGAGGGCCCAAGATTG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													185	177	179			NA	NA	3		NA											NA				157099043		2203	4300	6503	SO:0001819	synonymous_variant			AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415	79674	79674		Pleckstrin homology (PH) domain containing	25735	protein-coding gene	gene with protein product		609594	ventricular zone expressed PH domain homolog 1 (zebrafish)		NA	11214970, 15388229	Standard	NM_024621	NM_024621	NA	Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1029C>T	3.37:g.157099043G>A		NA	D3DNL0|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	37	CCDS3179.1																																																																																			VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351845.3		-	ENST00000362010.2	Silent	SNP	3 : 157099043 - 157099043 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	684	128
ACTR8	93973	broad.mit.edu	37	3	53907062	53907062	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53907062C>T	ENST00000482349.1	-	9	1156	c.825G>A	c.(823-825)ctG>ctA	p.L275L	ACTR8_ENST00000231909.7_Silent_p.L91L|ACTR8_ENST00000335754.3_Silent_p.L386L			Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	386					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		AAGTTACCTGCAGTTTTTCAT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	68	69			NA	NA	3		NA											NA				53907062		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812	93973	93973		INO80 complex subunits	14672	protein-coding gene	gene with protein product	INO80 complex subunit N		ARP8 (actin-related protein 8, yeast) homolog		NA	18163988, 16230350	Standard	NM_022899	NM_022899	NA	Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000482349.1:c.825G>A	3.37:g.53907062C>T		NA	B3KSW7|Q8N566|Q9H663	37		.	.	.	.	.	.	.	.	.	.	C	8.541	0.873383	0.17322	.	.	ENSG00000113812	ENST00000486794	.	.	.	6.08	0.688	0.18027	.	.	.	.	.	T	0.50565	0.1623	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39461	-0.9613	4	.	.	.	-18.7611	4.623	0.12465	0.0736:0.3076:0.4198:0.199	.	.	.	.	Y	140	.	.	C	-	2	0	ACTR8	53882102	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	0.989000	0.29629	0.455000	0.26910	-0.203000	0.12734	TGC	ACTR8-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000351655.2		-	ENST00000482349.1	Silent	SNP	3 : 53907062 - 53907062 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	86	15
C4orf40	0	broad.mit.edu	37	4	71024115	71024115	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71024115C>A	ENST00000344526.5	+	3	335	c.146C>A	c.(145-147)cCt>cAt	p.P49H	C4orf40_ENST00000502441.2_Intron|C4orf40_ENST00000502294.1_Missense_Mutation_p.P49H	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN		49						extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AATTTACCACCTCCTCTTTAT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													183	166	171			NA	NA	4		NA											NA				71024115		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000344526.5:c.146C>A	4.37:g.71024115C>A	ENSP00000343172:p.Pro49His	NA	A8MXP0|Q6MZR6	37	CCDS3535.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906477	0.33628	.	.	ENSG00000187533	ENST00000502294;ENST00000344526	T;T	0.62639	0.01;0.01	3.24	1.51	0.23008	.	.	.	.	.	T	0.60064	0.2240	L	0.27053	0.805	0.09310	N	1	D	0.76494	0.999	D	0.64237	0.923	T	0.46652	-0.9176	9	0.37606	T	0.19	-5.0476	5.5143	0.16898	0.0:0.7401:0.0:0.2598	.	49	Q6MZM9	CD040_HUMAN	H	49	ENSP00000426249:P49H;ENSP00000343172:P49H	ENSP00000343172:P49H	P	+	2	0	C4orf40	71058704	0.009000	0.17119	0.001000	0.08648	0.010000	0.07245	1.449000	0.35123	0.397000	0.25310	-0.192000	0.12808	CCT	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251558.1		+	ENST00000344526.5	Missense_Mutation	SNP	4 : 71024115 - 71024115 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	926	137
SLC46A3	283537	broad.mit.edu	37	13	29287292	29287292	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:29287292A>G	ENST00000380814.4	-	3	1083	c.585T>C	c.(583-585)ggT>ggC	p.G195G	SLC46A3_ENST00000266943.6_Silent_p.G195G			Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	195					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		ACCACTCAAAACCTAGCTCTC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	52	52			NA	NA	13		NA											NA				29287292		2203	4300	6503	SO:0001819	synonymous_variant				CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508	283537	283537		Solute carriers	27501	protein-coding gene	gene with protein product					NA		Standard	NM_181785	NM_001135919	NA	Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000380814.4:c.585T>C	13.37:g.29287292A>G		NA	Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	37	CCDS45021.1																																																																																			SLC46A3-001	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044324.2		-	ENST00000380814.4	Silent	SNP	13 : 29287292 - 29287292 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	69
PRSS36	146547	broad.mit.edu	37	16	31157151	31157151	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31157151G>T	ENST00000268281.4	-	6	737	c.679C>A	c.(679-681)Ctg>Atg	p.L227M	PRSS36_ENST00000569305.1_Missense_Mutation_p.L227M|PRSS36_ENST00000418068.2_Missense_Mutation_p.L227M	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	227	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CCAGCACACAGCATCCCTGGC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	68	68			NA	NA	16		NA											NA				31157151		2197	4300	6497	SO:0001583	missense			AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226		146547	146547		Serine peptidases / Serine peptidases	26906	protein-coding gene	gene with protein product	polyserase 2	610560			NA	15536082	Standard	NM_173502	NM_173502	NA	Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.679C>A	16.37:g.31157151G>T	ENSP00000268281:p.Leu227Met	NA	A8K2P5|Q8NBY4	37	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414918	0.62511	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	D;D	0.90385	-2.66;-2.66	5.45	0.754	0.18410	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.90943	0.7153	L	0.48174	1.505	0.40839	D	0.983656	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.977;1.0;1.0	D	0.87075	0.2162	9	0.36615	T	0.2	.	5.5116	0.16884	0.1691:0.0:0.5682:0.2627	.	227;227;227	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	M	227	ENSP00000268281:L227M;ENSP00000407160:L227M	ENSP00000268281:L227M	L	-	1	2	PRSS36	31064652	0.998000	0.40836	1.000000	0.80357	0.945000	0.59286	0.165000	0.16564	0.658000	0.30925	0.491000	0.48974	CTG	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000433542.1		-	ENST00000268281.4	Missense_Mutation	SNP	16 : 31157151 - 31157151 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	581	102
BOLA1	51027	broad.mit.edu	37	1	149871987	149871987	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149871987A>G	ENST00000369153.2	+	3	1039	c.375A>G	c.(373-375)ccA>ccG	p.P125P	BOLA1_ENST00000369150.1_Silent_p.P125P|BOLA1_ENST00000476344.1_3'UTR|BOLA1_ENST00000369152.5_Silent_p.P125P			Q9Y3E2	BOLA1_HUMAN	bolA family member 1	125						extracellular region	protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CTAGCCCCCCATGCCTGGGTG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	33	31			NA	NA	1		NA											NA				149871987		2203	4300	6503	SO:0001819	synonymous_variant			AF151901	CCDS939.1	1q21	2013-09-02	2013-09-02		ENSG00000178096	ENSG00000178096	51027	51027			24263	protein-coding gene	gene with protein product		613181	bolA-like 1 (E. coli), bolA homolog 1 (E. coli)		NA	14718656	Standard	NM_016074	NM_016074	NA	Approved	CGI-143	uc001etf.3	Q9Y3E2	OTTHUMG00000012087	ENST00000369153.2:c.375A>G	1.37:g.149871987A>G		NA	B2R7K2|D3DUZ4|Q5QNY0	37	CCDS939.1																																																																																			BOLA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033443.2		+	ENST00000369153.2	Silent	SNP	1 : 149871987 - 149871987 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	80
P4HTM	54681	broad.mit.edu	37	3	49042371	49042371	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49042371G>A	ENST00000343546.4	+	6	1333	c.965G>A	c.(964-966)gGg>gAg	p.G322E	P4HTM_ENST00000383729.4_Missense_Mutation_p.G322E	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	322	Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	TATGGTGAGGGGGGCCACTAC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	86	92			NA	NA	3		NA											NA				49042371		2203	4300	6503	SO:0001583	missense				CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467	54681	54681			28858	protein-coding gene	gene with protein product	Prolyl hydroxlase domain-containing 4, hypoxia inducible factor prolyl 4 hydroxylase	614584			NA	12163023, 17726031	Standard	NM_177938	XR_245139	NA	Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000343546.4:c.965G>A	3.37:g.49042371G>A	ENSP00000341422:p.Gly322Glu	NA	Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	37	CCDS2781.2	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606911	0.87157	.	.	ENSG00000178467	ENST00000383729;ENST00000343546	T	0.69175	-0.38	5.29	4.41	0.53225	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.103605	0.64402	D	0.000003	D	0.83922	0.5359	M	0.90595	3.13	0.51482	D	0.999927	D;D	0.64830	0.966;0.994	P;D	0.67900	0.875;0.954	D	0.87471	0.2414	10	0.66056	D	0.02	-3.3372	15.3609	0.74472	0.0:0.0:0.8593:0.1406	.	322;322	Q9NXG6-3;Q9NXG6	.;P4HTM_HUMAN	E	322	ENSP00000373235:G322E	ENSP00000341422:G322E	G	+	2	0	P4HTM	49017375	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.430000	0.97488	1.231000	0.43661	0.650000	0.86243	GGG	P4HTM-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157212.2		+	ENST00000343546.4	Missense_Mutation	SNP	3 : 49042371 - 49042371 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	569	107
TTN	7273	broad.mit.edu	37	2	179433683	179433683	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179433683C>T	ENST00000589042.1	-	326	77400	c.77176G>A	c.(77176-77178)Ggt>Agt	p.G25726S	TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G23158S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G24085S|TTN_ENST00000342175.6_Missense_Mutation_p.G16853S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G16786S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G16661S|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24085							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTACTGCCACCATCATGTTCA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													193	188	190			NA	NA	2		NA											NA				179433683		1995	4168	6163	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.77176G>A	2.37:g.179433683C>T	ENSP00000467141:p.Gly25726Ser	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.921098	0.52653	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.74	5.74	0.90152	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80099	0.4561	M	0.91818	3.245	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.83892	0.0285	9	0.87932	D	0	.	19.8963	0.96963	0.0:1.0:0.0:0.0	.	16661;16786;16853;24085	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	23158;16661;16853;16786;16659	ENSP00000343764:G23158S;ENSP00000434586:G16661S;ENSP00000340554:G16853S;ENSP00000352154:G16786S	ENSP00000340554:G16853S	G	-	1	0	TTN	179141929	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.695000	0.91970	0.650000	0.86243	GGT	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179433683 - 179433683 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	941	135
NUP205	23165	broad.mit.edu	37	7	135279294	135279294	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135279294G>T	ENST00000285968.6	+	13	1856		c.e13-1		NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	NA					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TCAATTCTTAGAGTGAAAATG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	84	83			NA	NA	7		NA											NA				135279294		2203	4300	6503	SO:0001630	splice_region_variant			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561	23165	23165			18658	protein-coding gene	gene with protein product		614352	chromosome 7 open reading frame 14	C7orf14	NA	9039502, 9348540	Standard		NM_015135	NA	Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.1831-1G>T	7.37:g.135279294G>T		NA	A6H8X3|Q86YC1	37	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.189076	0.57909	.	.	ENSG00000155561	ENST00000285968	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0836	0.93192	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NUP205	134929834	1.000000	0.71417	0.997000	0.53966	0.382000	0.30200	9.802000	0.99131	2.479000	0.83701	0.655000	0.94253	.	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340358.1	Intron	+	ENST00000285968.6	Splice_Site	SNP	7 : 135279294 - 135279294 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	430	78
ADPGK	83440	broad.mit.edu	37	15	73045191	73045191	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73045191G>A	ENST00000311669.8	-	7	1075	c.982C>T	c.(982-984)Ctg>Ttg	p.L328L	ADPGK_ENST00000456471.2_Silent_p.L54L	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	329	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						AGAAATAACAGCTCCTGTTCA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	53	54			NA	NA	15		NA											NA				73045191		1957	4147	6104	SO:0001819	synonymous_variant			AL136873	CCDS42057.1	15q24.1	2012-07-02			ENSG00000159322	ENSG00000159322	83440	83440			25250	protein-coding gene	gene with protein product		611861			NA	11230166	Standard	NM_031284	NM_031284	NA	Approved	DKFZp434B195, ADP-GK	uc002avf.4	Q9BRR6	OTTHUMG00000172777	ENST00000311669.8:c.982C>T	15.37:g.73045191G>A		NA	Q49AU7|Q8NBI1|Q8WZ90|Q96NF8|Q9H0A7	37	CCDS42057.1																																																																																			ADPGK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000420434.1		-	ENST00000311669.8	Silent	SNP	15 : 73045191 - 73045191 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	67
HOMER1	9456	broad.mit.edu	37	5	78692711	78692711	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78692711T>G	ENST00000334082.6	-	8	2253	c.811A>C	c.(811-813)Aaa>Caa	p.K271Q	HOMER1_ENST00000282260.6_Missense_Mutation_p.K141Q|HOMER1_ENST00000508576.1_Intron|HOMER1_ENST00000535690.1_Missense_Mutation_p.K97Q	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	271					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		ATTTCTTGTTTTAACCTTTCT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	112	117			NA	NA	5		NA											NA				78692711		1822	4082	5904	SO:0001583	missense			BC015502	CCDS43335.1, CCDS64188.1, CCDS64189.1	5q14.2	2008-02-05			ENSG00000152413	ENSG00000152413	9456	9456			17512	protein-coding gene	gene with protein product		604798			NA	9808459, 9808458	Standard	NM_004272	NM_004272	NA	Approved	Ves-1, SYN47, HOMER-1B	uc003kfy.4	Q86YM7	OTTHUMG00000134278	ENST00000334082.6:c.811A>C	5.37:g.78692711T>G	ENSP00000334382:p.Lys271Gln	NA	B2R688|O96003|Q86YM5	37	CCDS43335.1	.	.	.	.	.	.	.	.	.	.	T	18.68	3.675262	0.67928	.	.	ENSG00000152413	ENST00000334082;ENST00000282260;ENST00000535690	T;T;T	0.76578	-1.03;3.33;-1.03	5.63	4.46	0.54185	.	0.041017	0.85682	D	0.000000	T	0.76723	0.4027	L	0.29908	0.895	0.51767	D	0.999936	D;B;P	0.63046	0.992;0.029;0.615	P;B;B	0.55923	0.787;0.064;0.269	T	0.78048	-0.2356	10	0.66056	D	0.02	-8.3933	11.4933	0.50394	0.1348:0.0:0.0:0.8652	.	97;141;271	Q86YM6;Q86YM7-2;Q86YM7	.;.;HOME1_HUMAN	Q	271;141;97	ENSP00000334382:K271Q;ENSP00000282260:K141Q;ENSP00000441587:K97Q	ENSP00000282260:K141Q	K	-	1	0	HOMER1	78728467	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.063000	0.76714	1.046000	0.40249	0.533000	0.62120	AAA	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258856.1		-	ENST00000334082.6	Missense_Mutation	SNP	5 : 78692711 - 78692711 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	138	28
LARP1	23367	broad.mit.edu	37	5	154179551	154179551	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154179551G>A	ENST00000336314.4	+	10	1458	c.1434G>A	c.(1432-1434)gaG>gaA	p.E478E		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	555	HTH La-type RNA-binding.						protein binding|RNA binding	p.E555D(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGGATTCTGAGAACTGGATTG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											64	60	61			NA	NA	5		NA											NA				154179551		2203	4300	6503	SO:0001819	synonymous_variant			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506	23367	23367		La ribonucleoprotein domain containing	29531	protein-coding gene	gene with protein product		612059			NA	9872452, 10878606	Standard	NM_033551	NM_015315	NA	Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1434G>A	5.37:g.154179551G>A		NA	O94836|Q8N4M2|Q8NB73|Q9UFD7	37	CCDS4328.1																																																																																			LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252509.1		+	ENST00000336314.4	Silent	SNP	5 : 154179551 - 154179551 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	318	67
ME2	4200	broad.mit.edu	37	18	48447034	48447034	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:48447034C>T	ENST00000321341.5	+	9	1120	c.848C>T	c.(847-849)aCa>aTa	p.T283I	ME2_ENST00000382927.3_Missense_Mutation_p.T283I	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	283					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	CTTACAGGGACAGCTGCAGTA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	55	54			NA	NA	18		NA											NA				48447034		2203	4297	6500	SO:0001583	missense			M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	4200	4200	1.1.1.40		6984	protein-coding gene	gene with protein product		154270			NA	1993674	Standard	NM_002396	NM_002396	NA	Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.848C>T	18.37:g.48447034C>T	ENSP00000321070:p.Thr283Ile	NA	Q9BYG1|Q9H4B2	37	CCDS11948.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.809554	0.70797	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.64085	-0.08;-0.08	5.73	5.73	0.89815	Malic enzyme, conserved site (1);Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.86020	0.5833	H	0.95187	3.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.89641	0.3862	10	0.87932	D	0	-26.8303	18.6849	0.91559	0.0:1.0:0.0:0.0	.	283;283	Q9BWL6;P23368	.;MAOM_HUMAN	I	283	ENSP00000321070:T283I;ENSP00000372384:T283I	ENSP00000321070:T283I	T	+	2	0	ME2	46701032	1.000000	0.71417	0.991000	0.47740	0.416000	0.31233	7.791000	0.85805	2.719000	0.93026	0.637000	0.83480	ACA	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255991.1		+	ENST00000321341.5	Missense_Mutation	SNP	18 : 48447034 - 48447034 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	77
SLC6A18	348932	broad.mit.edu	37	5	1232923	1232923	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1232923C>T	ENST00000324642.3	+	3	482	c.359C>T	c.(358-360)gCg>gTg	p.A120V	SLC6A18_ENST00000296821.4_Missense_Mutation_p.A120V	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	120					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACCATCGTGGCGTGGGTGCTG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	VAL/ALA	0,4406		0,0,2203	141	111	121		359	-1.1	0	5		121	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC6A18	NM_182632.2	64	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	possibly-damaging	120/629	1232923	1,13005	2203	4300	6503	SO:0001583	missense			AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363	348932	348932		Solute carriers	26441	protein-coding gene	gene with protein product		610300	solute carrier family 6 (neurotransmitter transporter), member 18, solute carrier family 6, member 18		NA	19478081	Standard	NM_182632	NM_182632	NA	Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.359C>T	5.37:g.1232923C>T	ENSP00000323549:p.Ala120Val	NA		37	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.583854	0.28268	0.0	1.16E-4	ENSG00000164363	ENST00000324642;ENST00000296821	T;T	0.79454	-1.27;-1.27	5.09	-1.09	0.09904	.	1.103530	0.06848	N	0.796804	T	0.76807	0.4039	M	0.82630	2.6	0.09310	N	1	B	0.24258	0.1	B	0.25506	0.061	T	0.65998	-0.6032	10	0.66056	D	0.02	.	5.6151	0.17426	0.0:0.4704:0.1309:0.3987	.	120	Q96N87	S6A18_HUMAN	V	120	ENSP00000323549:A120V;ENSP00000296821:A120V	ENSP00000296821:A120V	A	+	2	0	SLC6A18	1285923	0.004000	0.15560	0.002000	0.10522	0.056000	0.15407	1.822000	0.39052	-0.003000	0.14444	-0.438000	0.05819	GCG	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206728.3		+	ENST00000324642.3	Missense_Mutation	SNP	5 : 1232923 - 1232923 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	575	108
RBM33	155435	broad.mit.edu	37	7	155559212	155559212	+	Missense_Mutation	SNP	C	C	T	rs146087306		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:155559212C>T	ENST00000401878.3	+	16	3436	c.3238C>T	c.(3238-3240)Cgc>Tgc	p.R1080C	RBM33_ENST00000341148.3_Missense_Mutation_p.R16C	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	1080							nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		GGGCCGGGGGCGCCTGATGCC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG	0,4406		0,0,2203	35	36	36		3238	5.5	1	7	dbSNP_134	36	1,8597	2.2+/-6.3	0,1,4298	yes	missense	RBM33	NM_053043.2	180	0,1,6501	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	1080/1171	155559212	1,13003	2203	4299	6502	SO:0001583	missense			AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863	155435	155435		RNA binding motif (RRM) containing	27223	protein-coding gene	gene with protein product			proline rich 8	PRR8	NA		Standard	NM_001008408	NM_053043	NA	Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.3238C>T	7.37:g.155559212C>T	ENSP00000384160:p.Arg1080Cys	NA	A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	37	CCDS5941.2	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701164	0.88924	0.0	1.16E-4	ENSG00000184863	ENST00000401878;ENST00000438356;ENST00000341148	T	0.59638	0.25	5.54	5.54	0.83059	.	0.000000	0.40385	U	0.001104	T	0.75466	0.3853	M	0.61703	1.905	0.58432	D	0.999999	D;D	0.89917	0.973;1.0	P;D	0.87578	0.774;0.998	T	0.77112	-0.2708	10	0.87932	D	0	.	19.4917	0.95052	0.0:1.0:0.0:0.0	.	798;1080	B4DVQ2;Q96EV2	.;RBM33_HUMAN	C	1080;16;16	ENSP00000384160:R1080C	ENSP00000341583:R16C	R	+	1	0	RBM33	155251973	1.000000	0.71417	0.964000	0.40570	0.961000	0.63080	7.117000	0.77129	2.589000	0.87451	0.655000	0.94253	CGC	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317225.3		+	ENST00000401878.3	Missense_Mutation	SNP	7 : 155559212 - 155559212 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	191	24
SFI1	9814	broad.mit.edu	37	22	31942888	31942888	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31942888A>C	ENST00000432498.1	+	5	773	c.380A>C	c.(379-381)gAa>gCa	p.E127A	SFI1_ENST00000443326.1_Missense_Mutation_p.E45A|SFI1_ENST00000443011.1_Missense_Mutation_p.E45A|SFI1_ENST00000400288.2_Missense_Mutation_p.E127A|SFI1_ENST00000540643.1_Missense_Mutation_p.E103A|SFI1_ENST00000400289.1_Missense_Mutation_p.E45A|SFI1_ENST00000414585.1_Missense_Mutation_p.E45A	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	127	Interaction with CETN2.				G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						GTCTTCGAAGAATGGAAAGAG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	115	117			NA	NA	22		NA											NA				31942888		1852	4094	5946	SO:0001583	missense			AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089	9814	9814			29064	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 139	612765			NA	14504268	Standard	NM_014775	NM_001007467	NA	Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000432498.1:c.380A>C	22.37:g.31942888A>C	ENSP00000402679:p.Glu127Ala	NA	A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	37	CCDS43005.1	.	.	.	.	.	.	.	.	.	.	A	6.071	0.381436	0.11524	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000421060;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288	T;T;T;T;T;T;T	0.11495	2.98;3.02;2.83;2.77;2.77;2.83;2.99	5.58	1.07	0.20283	.	0.799403	0.11209	N	0.587951	T	0.11793	0.0287	N	0.08118	0	0.09310	N	1	B;B;D;B;P;P	0.71674	0.027;0.033;0.998;0.056;0.717;0.663	B;B;D;B;B;B	0.72625	0.02;0.034;0.978;0.034;0.352;0.159	T	0.24905	-1.0147	10	0.51188	T	0.08	.	4.3223	0.11023	0.5714:0.1658:0.2628:0.0	.	103;45;45;127;127;103	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3;A8K8P3-5	.;.;.;.;SFI1_HUMAN;.	A	127;103;45;103;45;45;45;127	ENSP00000402679:E127A;ENSP00000443025:E103A;ENSP00000416469:E45A;ENSP00000397148:E45A;ENSP00000401199:E45A;ENSP00000383146:E45A;ENSP00000383145:E127A	ENSP00000383145:E127A	E	+	2	0	SFI1	30272888	0.617000	0.27043	0.053000	0.19242	0.270000	0.26580	0.916000	0.28651	-0.116000	0.11893	0.482000	0.46254	GAA	SFI1-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075103.4		+	ENST00000432498.1	Missense_Mutation	SNP	22 : 31942888 - 31942888 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	676	139
BCAT1	586	broad.mit.edu	37	12	25031471	25031471	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25031471C>T	ENST00000261192.7	-	5	1029	c.503G>A	c.(502-504)gGa>gAa	p.G168E	BCAT1_ENST00000342945.5_Missense_Mutation_p.G107E|BCAT1_ENST00000539780.1_Missense_Mutation_p.G131E|BCAT1_ENST00000539282.1_Missense_Mutation_p.G180E|BCAT1_ENST00000538118.1_Missense_Mutation_p.G167E|BCAT1_ENST00000544418.1_5'UTR	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	168					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	CACCTCAGTTCCAATGAATGT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	74	74			NA	NA	12		NA											NA				25031471		1941	4147	6088	SO:0001583	missense				CCDS44845.1, CCDS53760.1, CCDS53761.1, CCDS53762.1, CCDS53763.1	12p12.1	2012-10-02	2010-05-07		ENSG00000060982	ENSG00000060982	586	586	2.6.1.42		976	protein-coding gene	gene with protein product		113520	branched chain aminotransferase 1, cytosolic	BCT1	NA	9165094	Standard	NM_005504	NM_005504	NA	Approved		uc010six.2	P54687	OTTHUMG00000169053	ENST00000261192.7:c.503G>A	12.37:g.25031471C>T	ENSP00000261192:p.Gly168Glu	NA	Q96MY9	37	CCDS44845.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156952	0.78114	.	.	ENSG00000060982	ENST00000261192;ENST00000538118;ENST00000342945;ENST00000539282;ENST00000539780;ENST00000546285	T;T;T;T;T;T	0.78595	1.92;1.92;1.92;1.92;1.92;-1.19	6.17	6.17	0.99709	.	0.055262	0.64402	D	0.000001	D	0.92941	0.7754	H	0.97491	4.015	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;0.999	D;D;D;D;D	0.79784	0.982;0.988;0.982;0.993;0.988	D	0.94436	0.7654	10	0.87932	D	0	0.7255	19.6509	0.95805	0.0:1.0:0.0:0.0	.	131;180;107;168;167	B7Z5L0;F5H5E4;B3KY27;P54687;Q68DQ7	.;.;.;BCAT1_HUMAN;.	E	168;167;107;180;131;144	ENSP00000261192:G168E;ENSP00000440817:G167E;ENSP00000339805:G107E;ENSP00000443459:G180E;ENSP00000440827:G131E;ENSP00000438593:G144E	ENSP00000261192:G168E	G	-	2	0	BCAT1	24922738	1.000000	0.71417	0.996000	0.52242	0.237000	0.25408	6.234000	0.72326	2.941000	0.99782	0.655000	0.94253	GGA	BCAT1-001	KNOWN	upstream_uORF|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402080.1		-	ENST00000261192.7	Missense_Mutation	SNP	12 : 25031471 - 25031471 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	183	13
KIFAP3	22920	broad.mit.edu	37	1	169951979	169951979	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169951979G>A	ENST00000367765.1	-	14	2917	c.1416C>T	c.(1414-1416)atC>atT	p.I472I	KIFAP3_ENST00000367767.1_Silent_p.I468I|KIFAP3_ENST00000361580.2_Silent_p.I512I|KIFAP3_ENST00000540905.1_Silent_p.I214I|KIFAP3_ENST00000538366.1_Silent_p.I434I	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	512					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CATCATTAGAGATCTGGGCTG	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	62	63			NA	NA	1		NA											NA				169951979		2203	4300	6503	SO:0001819	synonymous_variant			U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945	22920	22920			17060	protein-coding gene	gene with protein product	Smg GDS	601836			NA	8900189	Standard	NM_014970	NM_014970	NA	Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000367765.1:c.1416C>T	1.37:g.169951979G>A		NA	B2RDL1|Q8NHU7|Q9H416	37	CCDS55660.1																																																																																			KIFAP3-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087569.1		-	ENST00000367765.1	Silent	SNP	1 : 169951979 - 169951979 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	261	23
DIO2	1734	broad.mit.edu	37	14	80669239	80669239	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:80669239C>T	ENST00000557010.1	-	4	1000	c.615G>A	c.(613-615)ccG>ccA	p.P205P	DIO2_ENST00000555750.1_Silent_p.P241P|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000438257.4_Silent_p.P205P	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	205					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	p.P205P(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		GGCACTGGGGCGGCAAGGAGA	0.537		NA									OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											73	76	75			NA	NA	14		NA											NA				80669239		2048	4194	6242	SO:0001819	synonymous_variant			AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1734	1734	1.97.1.10		2884	protein-coding gene	gene with protein product	thyroxine deiodinase, type II, deiodonase-2, deiodinase-2	601413			NA	8755651, 10343107	Standard		NM_001007023	NA	Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557010.1:c.615G>A	14.37:g.80669239C>T		1200	B9EGK0|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	37	CCDS45146.1																																																																																			DIO2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	NA	protein_coding	OTTHUMT00000413428.2		-	ENST00000557010.1	Silent	SNP	14 : 80669239 - 80669239 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	406	34
OR5AS1	219447	broad.mit.edu	37	11	55798285	55798285	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55798285C>T	ENST00000313555.1	+	1	391	c.391C>T	c.(391-393)Ctc>Ttc	p.L131F		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CAACCCACTGCTCTATACTAC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	126	136			NA	NA	11		NA											NA				55798285		2201	4296	6497	SO:0001583	missense			AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785	219447	219447		GPCR / Class A : Olfactory receptors	15261	protein-coding gene	gene with protein product					NA		Standard	NM_001001921	NM_001001921	NA	Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.391C>T	11.37:g.55798285C>T	ENSP00000324111:p.Leu131Phe	NA	Q6IFB8	37	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927250	0.34002	.	.	ENSG00000181785	ENST00000313555	T	0.00760	5.73	5.46	4.46	0.54185	GPCR, rhodopsin-like superfamily (1);	0.280065	0.19121	U	0.122191	T	0.02848	0.0085	M	0.83312	2.635	0.19300	N	0.999978	D	0.53619	0.961	P	0.50405	0.64	T	0.29518	-1.0009	10	0.45353	T	0.12	.	15.7281	0.77780	0.1459:0.854:0.0:0.0	.	131	Q8N127	O5AS1_HUMAN	F	131	ENSP00000324111:L131F	ENSP00000324111:L131F	L	+	1	0	OR5AS1	55554861	0.951000	0.32395	0.939000	0.37840	0.020000	0.10135	2.180000	0.42537	2.557000	0.86248	0.643000	0.83706	CTC	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391538.1		+	ENST00000313555.1	Missense_Mutation	SNP	11 : 55798285 - 55798285 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	451	78
KNDC1	85442	broad.mit.edu	37	10	135032456	135032456	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135032456C>A	ENST00000304613.3	+	27	4820	c.4799C>A	c.(4798-4800)cCt>cAt	p.P1600H	KNDC1_ENST00000368572.2_Splice_Site_p.P1602H			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1600	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AGGCAGTCCCCTGTGCGTCCC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	67	64			NA	NA	10		NA											NA				135032456		2203	4300	6503	SO:0001630	splice_region_variant			AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798	85442	85442			29374	protein-coding gene	gene with protein product			RasGEF domain family, member 2	RASGEF2, C10orf23	NA	11214970	Standard	NM_152643	NM_152643	NA	Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.4800+1C>A	10.37:g.135032456C>A		NA	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	37	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854650	0.71719	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.28895	1.59;1.59	4.12	4.12	0.48240	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.056032	0.64402	D	0.000001	T	0.50531	0.1621	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51988	-0.8635	10	0.52906	T	0.07	-11.2166	14.2262	0.65860	0.0:1.0:0.0:0.0	.	1600	Q76NI1	VKIND_HUMAN	H	1600;1602	ENSP00000304437:P1600H;ENSP00000357561:P1602H	ENSP00000304437:P1600H	P	+	2	0	KNDC1	134882446	1.000000	0.71417	0.924000	0.36721	0.374000	0.29953	5.643000	0.67895	2.005000	0.58758	0.561000	0.74099	CCT	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277044.3	Missense_Mutation	+	ENST00000304613.3	Splice_Site	SNP	10 : 135032456 - 135032456 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	602	113
MFSD2B	388931	broad.mit.edu	37	2	24239035	24239035	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24239035G>A	ENST00000406420.3	+	3	248	c.232G>A	c.(232-234)Gcc>Acc	p.A78T	MFSD2B_ENST00000338315.4_Missense_Mutation_p.A78T	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	78					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						GATCCCTGCCGCCCAGGTGTC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	63	62			NA	NA	2		NA											NA				24239035		1944	4145	6089	SO:0001583	missense				CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639	388931	388931			37207	protein-coding gene	gene with protein product					NA	18694395	Standard	NM_001080473	NM_001080473	NA	Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.232G>A	2.37:g.24239035G>A	ENSP00000385527:p.Ala78Thr	NA	B5MC32	37	CCDS46228.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.152068	0.38021	.	.	ENSG00000205639	ENST00000406420;ENST00000338315	D;D	0.89617	-2.54;-2.54	5.42	4.49	0.54785	Major facilitator superfamily domain, general substrate transporter (1);	1.084960	0.07103	U	0.840727	D	0.83459	0.5259	L	0.34521	1.04	0.27780	N	0.943183	B	0.32829	0.386	B	0.26202	0.067	T	0.74890	-0.3510	10	0.66056	D	0.02	-23.4313	10.9067	0.47084	0.0:0.0:0.7049:0.2951	.	78	A6NFX1	MFS2B_HUMAN	T	78	ENSP00000385527:A78T;ENSP00000342501:A78T	ENSP00000342501:A78T	A	+	1	0	MFSD2B	24092539	0.956000	0.32656	1.000000	0.80357	0.129000	0.20672	2.539000	0.45718	2.721000	0.93114	0.511000	0.50034	GCC	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324307.1		+	ENST00000406420.3	Missense_Mutation	SNP	2 : 24239035 - 24239035 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	384	48
FLT4	2324	broad.mit.edu	37	5	180055887	180055887	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180055887G>A	ENST00000261937.6	-	8	1176	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.F366F|FLT4_ENST00000393347.3_Silent_p.F366F	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	366	Ig-like C2-type 4.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GTTACCACTGGAACTCGGGCG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(97;1075 1466 27033 27547 35871)							NA				0													25	29	27			NA	NA	5		NA											NA				180055887		2196	4296	6492	SO:0001819	synonymous_variant			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2324	2324	2.7.10.1	Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	3767	protein-coding gene	gene with protein product		136352			NA	1319394	Standard		NM_002020	NA	Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1098C>T	5.37:g.180055887G>A		NA	Q16067|Q86W07	37	CCDS4457.1																																																																																			FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253527.4		-	ENST00000261937.6	Silent	SNP	5 : 180055887 - 180055887 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	314	57
MYO18A	399687	broad.mit.edu	37	17	27423801	27423801	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27423801C>T	ENST00000527372.1	-	28	4543	c.4363G>A	c.(4363-4365)Gaa>Aaa	p.E1455K	MYO18A_ENST00000533112.1_Missense_Mutation_p.E1455K|MYO18A_ENST00000354329.4_Missense_Mutation_p.E1455K|MYO18A_ENST00000531253.1_Missense_Mutation_p.E1455K	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1455					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TTCTCCAGTTCGTGGTTGCGG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(182;472 2015 7001 15270 22562)							NA				0													31	35	34			NA	NA	17		NA											NA				27423801		2051	4212	6263	SO:0001583	missense			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535	399687	399687		Myosins / Myosin superfamily : Class XVIII	31104	protein-coding gene	gene with protein product		610067			NA	12761286	Standard	NM_078471	NM_078471	NA	Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.4363G>A	17.37:g.27423801C>T	ENSP00000437073:p.Glu1455Lys	NA	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	37	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830253	0.91036	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.53	5.53	0.82687	Myosin tail (1);	0.043406	0.85682	D	0.000000	T	0.47358	0.1441	L	0.58810	1.83	0.53688	D	0.999975	D;P;P;P;D	0.63046	0.992;0.948;0.948;0.948;0.967	P;B;B;B;B	0.54270	0.747;0.176;0.24;0.176;0.353	T	0.40515	-0.9559	10	0.54805	T	0.06	.	19.4519	0.94871	0.0:1.0:0.0:0.0	.	1124;1067;1455;1455;1455	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	K	1455;1455;1455;1455;1455;351;351;1067	ENSP00000346291:E1455K;ENSP00000435932:E1455K;ENSP00000434228:E1455K;ENSP00000437073:E1455K	ENSP00000346291:E1455K	E	-	1	0	MYO18A	24447927	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	7.453000	0.80700	2.606000	0.88127	0.591000	0.81541	GAA	MYO18A-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389396.1		-	ENST00000527372.1	Missense_Mutation	SNP	17 : 27423801 - 27423801 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	98	16
AFM	173	broad.mit.edu	37	4	74357693	74357693	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74357693C>T	ENST00000226355.3	+	8	1041	c.948C>T	c.(946-948)aaC>aaT	p.N316N		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	316	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCATAATTAACTCAAACAAAG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	90	89			NA	NA	4		NA											NA				74357693		2203	4300	6503	SO:0001819	synonymous_variant			L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557	173	173			316	protein-coding gene	gene with protein product		104145			NA	7517938	Standard		NM_001133	NA	Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.948C>T	4.37:g.74357693C>T		NA	A8K3E1|Q32MR3|Q4W5C5	37	CCDS3557.1																																																																																			AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252275.2		+	ENST00000226355.3	Silent	SNP	4 : 74357693 - 74357693 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	457	107
NLRP3	114548	broad.mit.edu	37	1	247588135	247588135	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247588135G>A	ENST00000336119.3	+	3	2136	c.1390G>A	c.(1390-1392)Gcc>Acc	p.A464T	NLRP3_ENST00000366497.2_Missense_Mutation_p.A464T|NLRP3_ENST00000391828.3_Missense_Mutation_p.A464T|NLRP3_ENST00000366496.2_Missense_Mutation_p.A464T|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.A464T|NLRP3_ENST00000391827.2_Missense_Mutation_p.A464T	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	464	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CGGCCTCTGCGCCCACCTCTG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	28	28			NA	NA	1		NA											NA				247588135		2203	4300	6503	SO:0001583	missense			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711	114548	114548		Nucleotide-binding domain and leucine rich repeat containing	16400	protein-coding gene	gene with protein product	Cryopyrin, nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3	606416	cold autoinflammatory syndrome 1	C1orf7, CIAS1	NA	10741953	Standard	NM_004895	NM_183395	NA	Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1390G>A	1.37:g.247588135G>A	ENSP00000337383:p.Ala464Thr	NA	B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	4.417	0.077163	0.08485	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3;-2.3	4.17	1.24	0.21308	NACHT nucleoside triphosphatase (1);	0.811250	0.10970	N	0.613951	T	0.75064	0.3799	N	0.26162	0.8	0.09310	N	1	B;B;P;B;B	0.50528	0.299;0.424;0.936;0.092;0.07	B;B;B;B;B	0.42462	0.019;0.187;0.388;0.063;0.019	T	0.63756	-0.6565	10	0.14252	T	0.57	.	4.4665	0.11691	0.2042:0.1845:0.6113:0.0	.	464;464;464;464;464	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	T	464	ENSP00000375704:A464T;ENSP00000355453:A464T;ENSP00000337383:A464T;ENSP00000294752:A464T;ENSP00000355452:A464T;ENSP00000375703:A464T	ENSP00000337383:A464T	A	+	1	0	NLRP3	245654758	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.205000	0.17356	0.299000	0.22661	-0.165000	0.13383	GCC	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097740.1		+	ENST00000336119.3	Missense_Mutation	SNP	1 : 247588135 - 247588135 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	18
KCNJ16	3773	broad.mit.edu	37	17	68128331	68128331	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:68128331C>T	ENST00000585558.1	+	4	596	c.208C>T	c.(208-210)Cga>Tga	p.R70*	KCNJ16_ENST00000586462.1_Nonsense_Mutation_p.R74*|KCNJ16_ENST00000283936.1_Nonsense_Mutation_p.R35*|KCNJ16_ENST00000392670.1_Nonsense_Mutation_p.R35*|KCNJ16_ENST00000589377.1_Nonsense_Mutation_p.R35*|KCNJ16_ENST00000392671.1_Nonsense_Mutation_p.R35*			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	35					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					AGCAAGAAGACGATTACTTCA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	190	174	180		103,103,103	4	0.1	17		180	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained	KCNJ16	NM_018658.1,NM_170741.1,NM_170742.1	,,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,,	35/419,35/419,35/419	68128331	1,13005	2203	4300	6503	SO:0001587	stop_gained			AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822	3773	3773		Potassium channels, Voltage-gated ion channels / Potassium channels, Inwardly rectifying	6262	protein-coding gene	gene with protein product		605722			NA	11240146, 16382105	Standard	NM_018658	NM_018658	NA	Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000585558.1:c.208C>T	17.37:g.68128331C>T	ENSP00000465295:p.Arg70*	NA		37		.	.	.	.	.	.	.	.	.	.	C	34	5.347020	0.95807	0.0	1.16E-4	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	.	.	.	5.99	3.98	0.46160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2882	0.73846	0.2567:0.7432:0.0:0.0	.	.	.	.	X	35	.	.	R	+	1	2	KCNJ16	65639926	0.638000	0.27225	0.057000	0.19452	0.005000	0.04900	1.272000	0.33109	0.847000	0.35167	-0.127000	0.14921	CGA	KCNJ16-001	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000450884.1		+	ENST00000585558.1	Nonsense_Mutation	SNP	17 : 68128331 - 68128331 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	679	47
SPATA21	374955	broad.mit.edu	37	1	16731589	16731589	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16731589G>A	ENST00000335496.1	-	8	1166	c.684C>T	c.(682-684)agC>agT	p.S228S	SPATA21_ENST00000540400.1_Silent_p.S205S|SPATA21_ENST00000466212.1_5'UTR	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	228							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		TCTCAAAGTAGCTGCGGAAGG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	80	85			NA	NA	1		NA											NA				16731589		2203	4300	6503	SO:0001819	synonymous_variant				CCDS172.1	1p36.13	2013-01-10			ENSG00000187144	ENSG00000187144	374955	374955		EF-hand domain containing	28026	protein-coding gene	gene with protein product					NA		Standard	NM_198546	NM_198546	NA	Approved	spergen-2, spergen2	uc001ayn.3	Q7Z572	OTTHUMG00000002312	ENST00000335496.1:c.684C>T	1.37:g.16731589G>A		NA		37	CCDS172.1																																																																																			SPATA21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006677.2		-	ENST00000335496.1	Silent	SNP	1 : 16731589 - 16731589 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	337	36
ZMYM4	9202	broad.mit.edu	37	1	35873657	35873657	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35873657A>G	ENST00000314607.6	+	26	3925	c.3845A>G	c.(3844-3846)gAg>gGg	p.E1282G	ZMYM4_ENST00000373297.2_Missense_Mutation_p.E1193G	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1282					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACTTTTGCTGAGTTGAGTTTG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													194	178	183			NA	NA	1		NA											NA				35873657		2203	4300	6503	SO:0001583	missense			AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463	9202	9202		Zinc fingers, MYM type	13055	protein-coding gene	gene with protein product		613568	zinc finger protein 262	ZNF262	NA	10449923	Standard	NM_005095	NM_005095	NA	Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.3845A>G	1.37:g.35873657A>G	ENSP00000322915:p.Glu1282Gly	NA	A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	37	CCDS389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	33|33	5.261489|5.261489	0.95368|0.95368	.|.	.|.	ENSG00000146463|ENSG00000146463	ENST00000314607;ENST00000373297|ENST00000457946	T;T|.	0.32023|.	1.47;1.47|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76335|.	0.3973|.	M|M	0.77616|0.77616	2.38|2.38	0.80722|0.80722	D|D	1|1	P|.	0.48640|.	0.913|.	P|.	0.49752|.	0.621|.	T|.	0.77205|.	-0.2673|.	10|.	0.87932|.	D|.	0|.	-13.7096|-13.7096	16.1199|16.1199	0.81342|0.81342	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1282|.	Q5VZL5|.	ZMYM4_HUMAN|.	G|W	1282;1193|940	ENSP00000322915:E1282G;ENSP00000362394:E1193G|.	ENSP00000322915:E1282G|.	E|X	+|+	2|3	0|0	ZMYM4|ZMYM4	35646244|35646244	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	8.904000|8.904000	0.92590|0.92590	2.194000|2.194000	0.70268|0.70268	0.533000|0.533000	0.62120|0.62120	GAG|TGA	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000012207.3		+	ENST00000314607.6	Missense_Mutation	SNP	1 : 35873657 - 35873657 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	772	73
UNC13A	23025	broad.mit.edu	37	19	17756803	17756803	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17756803G>A	ENST00000519716.2	-	18	2161	c.2162C>T	c.(2161-2163)cCg>cTg	p.P721L	UNC13A_ENST00000252773.7_Missense_Mutation_p.P721L|UNC13A_ENST00000428389.2_Missense_Mutation_p.P809L|UNC13A_ENST00000552293.1_Missense_Mutation_p.P721L|UNC13A_ENST00000550896.1_Missense_Mutation_p.P719L|UNC13A_ENST00000551649.1_Missense_Mutation_p.P721L	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	721	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CTCCCACACCGGGTTGAGGTT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	69	71			NA	NA	19		NA											NA				17756803		1943	4140	6083	SO:0001583	missense			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477	23025	23025			23150	protein-coding gene	gene with protein product		609894			NA		Standard	XM_038604	NM_001080421	NA	Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2162C>T	19.37:g.17756803G>A	ENSP00000429562:p.Pro721Leu	NA		37	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214299	0.79352	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15;-3.15;-3.15	3.85	3.85	0.44370	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	D	0.97776	0.9270	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98755	1.0722	10	0.87932	D	0	-19.6225	13.6311	0.62196	0.0:0.0:1.0:0.0	.	721	Q9UPW8	UN13A_HUMAN	L	721;809;721;721;721;719	ENSP00000429562:P721L;ENSP00000400409:P809L;ENSP00000252773:P721L;ENSP00000447236:P721L;ENSP00000447572:P721L;ENSP00000446831:P719L	ENSP00000252773:P721L	P	-	2	0	UNC13A	17617803	1.000000	0.71417	0.969000	0.41365	0.875000	0.50365	9.620000	0.98373	1.874000	0.54306	0.313000	0.20887	CCG	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376169.2		-	ENST00000519716.2	Missense_Mutation	SNP	19 : 17756803 - 17756803 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	99	19
KIF26B	55083	broad.mit.edu	37	1	245849462	245849462	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245849462G>T	ENST00000366518.4	+	9	2138	c.2034G>T	c.(2032-2034)aaG>aaT	p.K678N	KIF26B_ENST00000407071.2_Missense_Mutation_p.K1059N			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1059	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TGGAAGGCAAGCCCAGGCCCA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	22	21			NA	NA	1		NA											NA				245849462		2024	4151	6175	SO:0001583	missense			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849	55083	55083		Kinesins	25484	protein-coding gene	gene with protein product		614026			NA		Standard	XM_371354	NM_018012	NA	Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000366518.4:c.2034G>T	1.37:g.245849462G>T	ENSP00000355475:p.Lys678Asn	NA	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	37		.	.	.	.	.	.	.	.	.	.	G	15.53	2.860041	0.51482	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.80033	-1.33;-1.32	5.77	4.86	0.63082	.	.	.	.	.	D	0.86197	0.5875	M	0.75447	2.3	0.50632	D	0.999884	D;D	0.89917	0.999;1.0	D;D	0.69307	0.922;0.963	D	0.83558	0.0105	9	0.30078	T	0.28	.	8.3751	0.32438	0.2115:0.0:0.7885:0.0	.	678;1059	B7WPD9;Q2KJY2	.;KI26B_HUMAN	N	1059;678;675	ENSP00000385545:K1059N;ENSP00000355475:K678N	ENSP00000355475:K678N	K	+	3	2	KIF26B	243916085	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.502000	0.53332	2.744000	0.94065	0.561000	0.74099	AAG	KIF26B-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000096658.2		+	ENST00000366518.4	Missense_Mutation	SNP	1 : 245849462 - 245849462 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	251	37
LCORL	254251	broad.mit.edu	37	4	17963615	17963615	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:17963615G>A	ENST00000326877.4	-	4	465	c.341C>T	c.(340-342)aCa>aTa	p.T114I	LCORL_ENST00000382226.5_Missense_Mutation_p.T114I|LCORL_ENST00000512376.2_5'UTR|LCORL_ENST00000539056.1_Missense_Mutation_p.T27I|LCORL_ENST00000382224.1_Missense_Mutation_p.T30I	NM_153686.7	NP_710153.2	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor corepressor-like	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						TAGCTCCTCTGTTGGTGTTGA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	106	109			NA	NA	4		NA											NA				17963615		2202	4300	6502	SO:0001583	missense				CCDS3425.1, CCDS54749.1	4p15.32	2006-06-14			ENSG00000178177	ENSG00000178177	254251	254251			30776	protein-coding gene	gene with protein product		611799			NA	12560079	Standard	NM_153686	NM_153686	NA	Approved	MLR1, FLJ30696	uc021xmr.1	Q8N3X6	OTTHUMG00000128538	ENST00000326877.4:c.341C>T	4.37:g.17963615G>A	ENSP00000317566:p.Thr114Ile	NA	Q96NK1	37	CCDS3425.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528768	0.85706	.	.	ENSG00000178177	ENST00000326877;ENST00000539056;ENST00000382224;ENST00000382226	.	.	.	5.89	5.89	0.94794	.	0.160650	0.56097	D	0.000028	T	0.74642	0.3743	L	0.40543	1.245	0.51767	D	0.999936	D;D	0.76494	0.997;0.999	D;D	0.85130	0.991;0.997	T	0.74377	-0.3685	9	0.59425	D	0.04	.	20.2617	0.98447	0.0:0.0:1.0:0.0	.	27;114	B4DSW0;Q8N3X6-3	.;.	I	114;27;30;114	.	ENSP00000317566:T114I	T	-	2	0	LCORL	17572713	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	7.159000	0.77483	2.793000	0.96121	0.655000	0.94253	ACA	LCORL-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250373.2		-	ENST00000326877.4	Missense_Mutation	SNP	4 : 17963615 - 17963615 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	293	46
SLC35F5	80255	broad.mit.edu	37	2	114501313	114501313	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:114501313C>A	ENST00000245680.2	-	6	952	c.539G>T	c.(538-540)aGc>aTc	p.S180I	SLC35F5_ENST00000409342.1_Missense_Mutation_p.S174I	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	180					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						AATGTTTGTGCTCTCAGGTTT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													234	224	228			NA	NA	2		NA											NA				114501313		2203	4300	6503	SO:0001583	missense			AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084	80255	80255		Solute carriers	23617	protein-coding gene	gene with protein product					NA		Standard	NM_025181	XM_005263799	NA	Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.539G>T	2.37:g.114501313C>A	ENSP00000245680:p.Ser180Ile	NA	Q9H6P8|Q9H7D8	37	CCDS2119.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202722	0.38905	.	.	ENSG00000115084	ENST00000245680;ENST00000409106;ENST00000409342	T;T	0.48522	0.81;0.81	5.35	4.41	0.53225	.	0.509245	0.23142	N	0.051441	T	0.28499	0.0705	N	0.14661	0.345	0.40549	D	0.981104	B;B;B	0.26876	0.162;0.015;0.037	B;B;B	0.28553	0.091;0.009;0.026	T	0.10941	-1.0608	10	0.36615	T	0.2	-3.8121	6.8013	0.23752	0.0:0.7491:0.0:0.2509	.	180;174;180	B2RDY0;B8ZZV6;Q8WV83	.;.;S35F5_HUMAN	I	180;174;174	ENSP00000245680:S180I;ENSP00000386754:S174I	ENSP00000245680:S180I	S	-	2	0	SLC35F5	114217783	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.340000	0.33896	1.327000	0.45338	0.655000	0.94253	AGC	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254150.1		-	ENST00000245680.2	Missense_Mutation	SNP	2 : 114501313 - 114501313 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	931	186
ZMYND10	51364	broad.mit.edu	37	3	50379568	50379568	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50379568G>A	ENST00000231749.3	-	9	2149	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000490675.1_Intron|ZMYND10_ENST00000360165.3_Missense_Mutation_p.R288W	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	293						cytoplasm	protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AGGAAGGCCCGAAGCTGCAAG	0.612		NA								TSP Lung(30;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	67	67			NA	NA	3		NA											NA				50379568		2203	4300	6503	SO:0001583	missense			U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838	51364	51364		Zinc fingers, MYND-type	19412	protein-coding gene	gene with protein product		607070			NA	12629521, 23891469	Standard	NM_015896	NM_015896	NA	Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.877C>T	3.37:g.50379568G>A	ENSP00000231749:p.Arg293Trp	NA	A6NK41|O14570|O75801|Q8N4R6|Q8NDN6	37	CCDS2825.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721875	0.68959	.	.	ENSG00000004838	ENST00000231749;ENST00000360165;ENST00000442887	.	.	.	5.31	3.41	0.39046	.	0.107154	0.64402	D	0.000005	T	0.76912	0.4054	M	0.86178	2.8	0.32311	N	0.563782	D;D	0.89917	1.0;0.999	D;D	0.74348	0.983;0.909	D	0.83569	0.0111	9	0.87932	D	0	-9.3558	13.8817	0.63686	0.0:0.0:0.7216:0.2784	.	288;293	O75800-2;O75800	.;ZMY10_HUMAN	W	293;288;250	.	ENSP00000231749:R293W	R	-	1	2	ZMYND10	50354572	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	2.512000	0.45485	0.536000	0.28733	0.462000	0.41574	CGG	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346376.1		-	ENST00000231749.3	Missense_Mutation	SNP	3 : 50379568 - 50379568 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	478	74
ANAPC4	29945	broad.mit.edu	37	4	25393972	25393972	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25393972C>A	ENST00000315368.3	+	10	860	c.718C>A	c.(718-720)Ctg>Atg	p.L240M	ANAPC4_ENST00000510092.1_Missense_Mutation_p.L240M	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	240					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TGAAACTAATCTGTTGTACTC	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	153	157			NA	NA	4		NA											NA				25393972		2202	4300	6502	SO:0001583	missense			AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900	29945	29945		Anaphase promoting complex subunits	19990	protein-coding gene	gene with protein product		606947			NA	6180011	Standard	NM_013367	NM_013367	NA	Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.718C>A	4.37:g.25393972C>A	ENSP00000318775:p.Leu240Met	NA	A8K8H1|Q6PCC6|Q9NSH6	37	CCDS3434.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177817	0.57692	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	T;T	0.36878	1.24;1.23	5.72	5.72	0.89469	Anaphase-promoting complex subunit 4 long domain (1);	0.000000	0.85682	D	0.000000	T	0.55273	0.1910	M	0.63843	1.955	0.47123	D	0.999326	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.998	T	0.55418	-0.8144	10	0.59425	D	0.04	-12.3556	11.2235	0.48869	0.0:0.859:0.0:0.141	.	240;240;240	Q9UJX5-2;E9PCR4;Q9UJX5	.;.;APC4_HUMAN	M	240	ENSP00000318775:L240M;ENSP00000426654:L240M	ENSP00000318775:L240M	L	+	1	2	ANAPC4	25003070	0.929000	0.31497	0.971000	0.41717	0.830000	0.47004	1.862000	0.39448	2.711000	0.92665	0.655000	0.94253	CTG	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214986.1		+	ENST00000315368.3	Missense_Mutation	SNP	4 : 25393972 - 25393972 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	322	52
RNF17	56163	broad.mit.edu	37	13	25418028	25418028	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25418028A>C	ENST00000255324.5	+	20	2802	c.2750A>C	c.(2749-2751)gAa>gCa	p.E917A	RNF17_ENST00000339524.3_5'UTR|RNF17_ENST00000381921.1_Missense_Mutation_p.E917A	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	917					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TATAATAAGGAATTGCCTGTG	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	55	54			NA	NA	13		NA											NA				25418028		2202	4295	6497	SO:0001583	missense			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972	56163	56163		RING-type (C3HC4) zinc fingers, Tudor domain containing	10060	protein-coding gene	gene with protein product	spermatogenesis associated 23	605793	tudor domain containing 4	TDRD4	NA	11279525	Standard	NM_031994	NM_001184993	NA	Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.2750A>C	13.37:g.25418028A>C	ENSP00000255324:p.Glu917Ala	NA	Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	37	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	A	17.29	3.352430	0.61293	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120	T;T;T	0.09630	2.96;2.96;2.96	4.72	4.72	0.59763	Maternal tudor protein (1);	0.323633	0.29172	N	0.012927	T	0.15869	0.0382	N	0.17082	0.46	0.80722	D	1	D;P;D	0.89917	1.0;0.93;1.0	D;P;D	0.87578	0.998;0.636;0.995	T	0.17930	-1.0353	10	0.18710	T	0.47	-21.1896	12.0966	0.53758	1.0:0.0:0.0:0.0	.	917;917;917	B7Z7S1;Q9BXT8-5;Q9BXT8	.;.;RNF17_HUMAN	A	917;917;776;241	ENSP00000255324:E917A;ENSP00000371346:E917A;ENSP00000388892:E241A	ENSP00000255324:E917A	E	+	2	0	RNF17	24316028	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.209000	0.65208	2.113000	0.64589	0.482000	0.46254	GAA	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044217.1		+	ENST00000255324.5	Missense_Mutation	SNP	13 : 25418028 - 25418028 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	278	54
SYNE2	23224	broad.mit.edu	37	14	64692087	64692087	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64692087G>A	ENST00000554584.1	+	115	20313	c.20262G>A	c.(20260-20262)ccG>ccA	p.P6754P	SYNE2_ENST00000554805.1_Missense_Mutation_p.R617Q|SYNE2_ENST00000555022.1_Missense_Mutation_p.R712Q|SYNE2_ENST00000344113.4_Missense_Mutation_p.R6834Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.R3490Q|SYNE2_ENST00000441438.2_Missense_Mutation_p.R378Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.R3219Q|SYNE2_ENST00000458046.2_Missense_Mutation_p.R505Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.R6856Q|SYNE2_ENST00000394768.2_Missense_Mutation_p.R3219Q			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	0					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGGGTGGTCCGGGCAGCCCTA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	36	39			NA	NA	14		NA											NA				64692087		2203	4300	6503	SO:0001819	synonymous_variant			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654	23224	23224			17084	protein-coding gene	gene with protein product	nuclear envelope spectrin repeat-2, nucleus and actin connecting element	608442			NA	10231032, 10878022	Standard	NM_182914	NM_182910	NA	Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000554584.1:c.20262G>A	14.37:g.64692087G>A		NA	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	37		.	.	.	.	.	.	.	.	.	.	G	29.7	5.029618	0.93518	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438	T;T;T;T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89	5.99	5.99	0.97316	Klarsicht/ANC-1/syne-1 homology (2);	0.124076	0.32175	N	0.006463	T	0.61788	0.2375	M	0.90082	3.085	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.999;0.999;1.0	D;D;D;D;D;D;D	0.72338	0.953;0.974;0.977;0.945;0.976;0.976;0.966	T	0.67292	-0.5707	10	0.72032	D	0.01	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	491;3219;378;505;1236;6834;6856	B4DND7;Q8WXH0-7;Q8WXH0-6;Q8WXH0-5;Q7Z362;Q8WXH0;Q8WXH0-2	.;.;.;.;.;SYNE2_HUMAN;.	Q	6856;3219;6834;3490;3219;712;617;505;378	ENSP00000350719:R6856Q;ENSP00000349969:R3219Q;ENSP00000341781:R6834Q;ENSP00000450831:R3490Q;ENSP00000378249:R3219Q;ENSP00000451009:R712Q;ENSP00000450605:R617Q;ENSP00000391937:R505Q;ENSP00000396794:R378Q	ENSP00000341781:R6834Q	R	+	2	0	SYNE2	63761840	1.000000	0.71417	0.997000	0.53966	0.222000	0.24845	9.869000	0.99810	2.840000	0.97914	0.655000	0.94253	CGG	SYNE2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000411905.1		+	ENST00000554584.1	Silent	SNP	14 : 64692087 - 64692087 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	260	55
MACC1	346389	broad.mit.edu	37	7	20199174	20199174	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20199174G>A	ENST00000400331.5	-	5	1118	c.810C>T	c.(808-810)agC>agT	p.S270S	MACC1_ENST00000589011.1_Silent_p.S270S|MACC1_ENST00000332878.4_Silent_p.S270S	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	270					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CCAACAACGGGCTCACAGTGC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	82	84			NA	NA	7		NA											NA				20199174		2203	4300	6503	SO:0001819	synonymous_variant				CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742	346389	346389			30215	protein-coding gene	gene with protein product		612646			NA		Standard	NM_182762	NM_182762	NA	Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.810C>T	7.37:g.20199174G>A		NA	A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	37	CCDS5369.1																																																																																			MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250202.5		-	ENST00000400331.5	Silent	SNP	7 : 20199174 - 20199174 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	62
CCDC141	285025	broad.mit.edu	37	2	179730620	179730620	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179730620C>A	ENST00000420890.2	-	17	2715	c.2598G>T	c.(2596-2598)aaG>aaT	p.K866N	CCDC141_ENST00000295723.5_Missense_Mutation_p.K291N	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	291	Ig-like.						protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GCTGTAGGTTCTTTGCAGAAA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	170	172			NA	NA	2		NA											NA				179730620		2203	4300	6503	SO:0001583	missense			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492	285025	285025		Immunoglobulin superfamily / Immunoglobulin-like domain containing	26821	protein-coding gene	gene with protein product	coiled-coil protein associated with myosin II and DISC1				NA	20956536	Standard	NM_173648	NM_173648	NA	Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2598G>T	2.37:g.179730620C>A	ENSP00000395995:p.Lys866Asn	NA	Q8N8H3	37		.	.	.	.	.	.	.	.	.	.	C	21.0	4.078922	0.76528	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758	T;T;T;T	0.50277	0.75;1.34;1.34;1.3	6.07	5.19	0.71726	.	0.095181	0.45361	D	0.000364	T	0.56558	0.1993	L	0.34521	1.04	0.31795	N	0.629176	D	0.76494	0.999	D	0.68192	0.956	T	0.62690	-0.6801	10	0.36615	T	0.2	-13.9934	15.2563	0.73588	0.0:0.933:0.0:0.067	.	291	Q6ZP82	CC141_HUMAN	N	866;310;291;866	ENSP00000395995:K866N;ENSP00000344627:K310N;ENSP00000295723:K291N;ENSP00000390190:K866N	ENSP00000295723:K291N	K	-	3	2	CCDC141	179438865	1.000000	0.71417	0.953000	0.39169	0.600000	0.36913	2.727000	0.47311	1.572000	0.49736	0.650000	0.86243	AAG	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding			-	ENST00000420890.2	Missense_Mutation	SNP	2 : 179730620 - 179730620 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1137	197
SF3A1	10291	broad.mit.edu	37	22	30735152	30735152	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30735152G>A	ENST00000215793.8	-	10	1618	c.1464C>T	c.(1462-1464)atC>atT	p.I488I	SF3A1_ENST00000439242.1_Silent_p.I423I	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	NA					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						CCTCCTCACCGATCTTCTTAC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													260	204	223			NA	NA	22		NA											NA				30735152		2203	4300	6503	SO:0001819	synonymous_variant			X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995	10291	10291			10765	protein-coding gene	gene with protein product		605595	splicing factor 3a, subunit 1, 120kD		NA	7489498	Standard	NM_005877	NM_005877	NA	Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.1464C>T	22.37:g.30735152G>A		NA		37	CCDS13875.1																																																																																			SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320916.2		-	ENST00000215793.8	Silent	SNP	22 : 30735152 - 30735152 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	911	150
NLRP3	114548	broad.mit.edu	37	1	247597464	247597464	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247597464G>A	ENST00000336119.3	+	5	3133	c.2387G>A	c.(2386-2388)aGc>aAc	p.S796N	NLRP3_ENST00000366497.2_Missense_Mutation_p.S796N|NLRP3_ENST00000391828.3_Missense_Mutation_p.S796N|NLRP3_ENST00000366496.2_Missense_Mutation_p.S796N|NLRP3_ENST00000348069.2_Missense_Mutation_p.S739N|NLRP3_ENST00000391827.2_Missense_Mutation_p.S739N	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	796					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GTCCTCAGCAGCAACCAGAAG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	121	125			NA	NA	1		NA											NA				247597464		2203	4300	6503	SO:0001583	missense			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711	114548	114548		Nucleotide-binding domain and leucine rich repeat containing	16400	protein-coding gene	gene with protein product	Cryopyrin, nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3	606416	cold autoinflammatory syndrome 1	C1orf7, CIAS1	NA	10741953	Standard	NM_004895	NM_183395	NA	Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2387G>A	1.37:g.247597464G>A	ENSP00000337383:p.Ser796Asn	NA	B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	g	9.475	1.096623	0.20552	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;D;T;D	0.93019	0.71;0.62;0.71;-3.15;0.62;-3.15	3.44	1.49	0.22878	.	0.747174	0.12005	N	0.508408	D	0.87997	0.6319	L	0.41236	1.265	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.0;0.001	B;B;B;B	0.08055	0.001;0.003;0.002;0.002	T	0.76446	-0.2956	10	0.34782	T	0.22	.	7.3519	0.26695	0.2236:0.0:0.7764:0.0	.	739;739;796;796	Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;NALP3_HUMAN	N	796;796;796;739;796;739	ENSP00000375704:S796N;ENSP00000355453:S796N;ENSP00000337383:S796N;ENSP00000294752:S739N;ENSP00000355452:S796N;ENSP00000375703:S739N	ENSP00000337383:S796N	S	+	2	0	NLRP3	245664087	0.000000	0.05858	0.416000	0.26546	0.639000	0.38242	0.242000	0.18087	0.435000	0.26365	0.472000	0.43445	AGC	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097740.1		+	ENST00000336119.3	Missense_Mutation	SNP	1 : 247597464 - 247597464 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	664	141
SNX10	29887	broad.mit.edu	37	7	26404691	26404691	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:26404691A>C	ENST00000338523.4	+	5	424	c.237A>C	c.(235-237)aaA>aaC	p.K79N	SNX10_ENST00000396376.1_Missense_Mutation_p.K79N|SNX10_ENST00000446848.2_Missense_Mutation_p.K105N|SNX10_ENST00000409838.1_5'UTR|SNX10_ENST00000409367.1_Missense_Mutation_p.K39N	NM_001199835.1|NM_013322.2	NP_001186764.1|NP_037454.2	Q9Y5X0	SNX10_HUMAN	sorting nexin 10	79	PX.				cell communication|endosome organization|protein transport	extrinsic to endosome membrane	1-phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	6						TTCCATCTAAAAACCTGTTTT	0.413		NA									OREG0017908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	63	62			NA	NA	7		NA											NA				26404691		2203	4300	6503	SO:0001583	missense			AF121860	CCDS5399.1, CCDS56470.1	7p15.2	2008-05-22			ENSG00000086300	ENSG00000086300	29887	29887		Sorting nexins	14974	protein-coding gene	gene with protein product		614780			NA	17012226	Standard		NM_013322	NA	Approved		uc010kuu.3	Q9Y5X0	OTTHUMG00000023650	ENST00000338523.4:c.237A>C	7.37:g.26404691A>C	ENSP00000343709:p.Lys79Asn	786	Q8IYT5	37	CCDS5399.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.327163	0.81690	.	.	ENSG00000086300	ENST00000416246;ENST00000338523;ENST00000446848;ENST00000396376;ENST00000409367	T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53	6.17	5.03	0.67393	Phox homologous domain (5);	0.137279	0.64402	D	0.000003	T	0.74898	0.3777	M	0.92459	3.31	0.39415	D	0.966823	D;D	0.63880	0.993;0.986	P;P	0.61397	0.888;0.67	T	0.82084	-0.0632	10	0.87932	D	0	.	11.8368	0.52330	0.9327:0.0:0.0673:0.0	.	105;79	B4DJM0;Q9Y5X0	.;SNX10_HUMAN	N	105;79;105;79;39	ENSP00000408164:K105N;ENSP00000343709:K79N;ENSP00000395474:K105N;ENSP00000379661:K79N;ENSP00000387274:K39N	ENSP00000343709:K79N	K	+	3	2	SNX10	26371216	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	2.599000	0.46231	2.371000	0.80710	0.533000	0.62120	AAA	SNX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214120.1		+	ENST00000338523.4	Missense_Mutation	SNP	7 : 26404691 - 26404691 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	257	51
ZNF502	91392	broad.mit.edu	37	3	44763223	44763223	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44763223G>A	ENST00000296091.4	+	4	1170	c.914G>A	c.(913-915)cGa>cAa	p.R305Q	ZNF502_ENST00000449836.1_Missense_Mutation_p.R305Q|ZNF502_ENST00000436624.2_Missense_Mutation_p.R305Q	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		TCTTCTTTTCGAAAACACTCA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	167	165			NA	NA	3		NA											NA				44763223		2203	4300	6503	SO:0001583	missense			AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653	91392	91392		Zinc fingers, C2H2-type	23718	protein-coding gene	gene with protein product					NA		Standard	NM_033210	NM_033210	NA	Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.914G>A	3.37:g.44763223G>A	ENSP00000296091:p.Arg305Gln	NA		37	CCDS2719.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.43|14.43	2.531824|2.531824	0.45073|0.45073	.|.	.|.	ENSG00000196653|ENSG00000196653	ENST00000427783|ENST00000449836;ENST00000296091;ENST00000436624	.|T;T;T	.|0.18338	.|2.22;2.22;2.22	4.27|4.27	2.42|2.42	0.29668|0.29668	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.14570|0.14570	0.0352|0.0352	L|L	0.45698|0.45698	1.435|1.435	0.09310|0.09310	N|N	1|1	.|P	.|0.46987	.|0.888	.|B	.|0.42593	.|0.392	T|T	0.20306|0.20306	-1.0279|-1.0279	6|9	0.33141|0.62326	T|D	0.24|0.03	-0.978|-0.978	2.7889|2.7889	0.05381|0.05381	0.102:0.1842:0.5241:0.1897|0.102:0.1842:0.5241:0.1897	.|.	.|305	.|Q8TBZ5	.|ZN502_HUMAN	K|Q	305|305	.|ENSP00000397390:R305Q;ENSP00000296091:R305Q;ENSP00000406469:R305Q	ENSP00000397812:E305K|ENSP00000296091:R305Q	E|R	+|+	1|2	0|0	ZNF502|ZNF502	44738227|44738227	0.000000|0.000000	0.05858|0.05858	0.261000|0.261000	0.24466|0.24466	0.936000|0.936000	0.57629|0.57629	-0.329000|-0.329000	0.07935|0.07935	0.540000|0.540000	0.28808|0.28808	0.655000|0.655000	0.94253|0.94253	GAA|CGA	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256744.4		+	ENST00000296091.4	Missense_Mutation	SNP	3 : 44763223 - 44763223 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	957	217
FBXO24	26261	broad.mit.edu	37	7	100187909	100187909	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100187909G>A	ENST00000241071.6	+	3	573	c.251G>A	c.(250-252)cGc>cAc	p.R84H	FBXO24_ENST00000468962.1_Missense_Mutation_p.R72H|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_Missense_Mutation_p.R84H|FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000465843.1_Missense_Mutation_p.R84H|FBXO24_ENST00000427939.2_Missense_Mutation_p.R122H	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	84						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CGCATCTGTCGCAGACTCAGT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	61	66			NA	NA	7		NA											NA				100187909		2203	4300	6503	SO:0001583	missense			AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336	26261	26261		F-boxes /  other	13595	protein-coding gene	gene with protein product		609097	F-box only protein 24		NA	10531035, 10531037	Standard		NM_012172	NA	Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.251G>A	7.37:g.100187909G>A	ENSP00000241071:p.Arg84His	NA	A4D2D4|Q9H0G1	37	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428216	0.43122	.	.	ENSG00000106336	ENST00000461079;ENST00000241071;ENST00000360609;ENST00000465843;ENST00000466053;ENST00000468962;ENST00000427939	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	4.69	1.76	0.24704	F-box domain, cyclin-like (1);F-box domain, Skp2-like (1);	0.348956	0.22613	N	0.057818	T	0.28532	0.0706	L	0.39467	1.215	0.30175	N	0.800905	B;B;B;B	0.17268	0.008;0.021;0.008;0.017	B;B;B;B	0.15484	0.008;0.013;0.008;0.004	T	0.14559	-1.0468	10	0.40728	T	0.16	-6.8099	4.832	0.13445	0.1951:0.0:0.6348:0.1701	.	72;122;84;84	B4DY42;B4DX91;O75426;O75426-2	.;.;FBX24_HUMAN;.	H	107;84;84;84;89;72;122	ENSP00000419587:R107H;ENSP00000241071:R84H;ENSP00000353821:R84H;ENSP00000419602:R84H;ENSP00000417179:R89H;ENSP00000420239:R72H;ENSP00000416558:R122H	ENSP00000241071:R84H	R	+	2	0	FBXO24	100025845	0.604000	0.26932	0.998000	0.56505	0.943000	0.58893	0.030000	0.13688	0.175000	0.19841	0.555000	0.69702	CGC	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356104.1		+	ENST00000241071.6	Missense_Mutation	SNP	7 : 100187909 - 100187909 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	47
STS	412	broad.mit.edu	37	X	7252125	7252125	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:7252125C>A	ENST00000217961.4	+	9	1575	c.1355C>A	c.(1354-1356)gCt>gAt	p.A452D		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	452					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	TACTTAAATGCTGTGCGCTGG	0.478		NA							Ichthyosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	115	123			NA	NA	X		NA											NA				7252125		2203	4299	6502	SO:0001583	missense	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	412	412	3.1.6.2	Arylsulfatase family	11425	protein-coding gene	gene with protein product	arylsulfatase C	300747	steroid sulfatase (microsomal), arylsulfatase C, isozyme S	ARSC1	NA		Standard	NM_000351	NM_000351	NA	Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.1355C>A	X.37:g.7252125C>A	ENSP00000217961:p.Ala452Asp	NA	B2RA47	37	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508259	0.85282	.	.	ENSG00000101846	ENST00000217961	D	0.97256	-4.31	3.95	3.95	0.45737	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98921	0.9634	H	0.97758	4.07	0.53688	D	0.999974	D	0.76494	0.999	D	0.75484	0.986	D	0.99164	1.0862	10	0.87932	D	0	.	12.8957	0.58098	0.0:1.0:0.0:0.0	.	452	P08842	STS_HUMAN	D	452	ENSP00000217961:A452D	ENSP00000217961:A452D	A	+	2	0	STS	7262125	1.000000	0.71417	0.777000	0.31699	0.960000	0.62799	6.102000	0.71486	1.586000	0.49944	0.513000	0.50165	GCT	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055686.1		+	ENST00000217961.4	Missense_Mutation	SNP	X : 7252125 - 7252125 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	114
SNTG2	54221	broad.mit.edu	37	2	1243543	1243543	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1243543G>A	ENST00000308624.5	+	11	1012	c.883G>A	c.(883-885)Gac>Aac	p.D295N	SNTG2_ENST00000407292.1_Missense_Mutation_p.D168N	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	295					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CTCTCCTTCCGACCAGGTAGG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													170	161	164			NA	NA	2		NA											NA				1243543		2076	4217	6293	SO:0001583	missense			AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554	54221	54221			13741	protein-coding gene	gene with protein product		608715			NA	10747910	Standard	NM_018968	NM_018968	NA	Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.883G>A	2.37:g.1243543G>A	ENSP00000311837:p.Asp295Asn	NA	Q05AH5	37	CCDS46220.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.988159	0.35036	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.69040	1.6;-0.37	4.77	4.77	0.60923	.	0.106304	0.64402	D	0.000007	T	0.66117	0.2757	M	0.70595	2.14	0.58432	D	0.999992	B;B	0.28667	0.219;0.14	B;B	0.23716	0.048;0.009	T	0.67047	-0.5769	10	0.42905	T	0.14	.	16.9182	0.86157	0.0:0.0:1.0:0.0	.	168;295	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	N	295;168	ENSP00000311837:D295N;ENSP00000385020:D168N	ENSP00000311837:D295N	D	+	1	0	SNTG2	1226094	1.000000	0.71417	0.964000	0.40570	0.041000	0.13682	3.705000	0.54823	2.338000	0.79540	0.655000	0.94253	GAC	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322454.1		+	ENST00000308624.5	Missense_Mutation	SNP	2 : 1243543 - 1243543 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	122	19
ALG10	84920	broad.mit.edu	37	12	34178927	34178927	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:34178927T>C	ENST00000266483.2	+	3	818	c.499T>C	c.(499-501)Tgt>Cgt	p.C167R	RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Intron	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	167					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				GTATTTGATGTGTCTTTATGG	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													197	202	200			NA	NA	12		NA											NA				34178927		2203	4299	6502	SO:0001583	missense			AJ312278	CCDS41769.1	12p11.21	2013-03-04	2013-03-04		ENSG00000139133	ENSG00000139133	84920	84920	2.4.1.256		23162	protein-coding gene	gene with protein product	derepression of ITR1 expression 2 homolog (S. cerevisiae), dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase	603313	asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast), asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)		NA		Standard	NM_032834	NM_032834	NA	Approved	FLJ14751, DIE2, ALG10A	uc001rlm.3	Q5BKT4	OTTHUMG00000169285	ENST00000266483.2:c.499T>C	12.37:g.34178927T>C	ENSP00000266483:p.Cys167Arg	NA	Q6NS98|Q96DU0|Q96SM6	37	CCDS41769.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.145830	0.37923	.	.	ENSG00000139133	ENST00000266483	T	0.56275	0.47	3.13	3.13	0.36017	.	0.145631	0.64402	D	0.000005	T	0.57932	0.2087	M	0.80847	2.515	0.80722	D	1	P	0.49961	0.93	P	0.48982	0.597	T	0.57740	-0.7759	10	0.23302	T	0.38	.	9.6518	0.39902	0.0:0.0:0.0:1.0	.	167	Q5BKT4	AG10A_HUMAN	R	167	ENSP00000266483:C167R	ENSP00000266483:C167R	C	+	1	0	ALG10	34070194	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	3.762000	0.55250	1.223000	0.43536	0.155000	0.16302	TGT	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403309.1		+	ENST00000266483.2	Missense_Mutation	SNP	12 : 34178927 - 34178927 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1281	227
BMX	660	broad.mit.edu	37	X	15568034	15568034	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15568034C>A	ENST00000357607.2	+	18	2055	c.1867C>A	c.(1867-1869)Ctg>Atg	p.L623M	BMX_ENST00000342014.6_Missense_Mutation_p.L623M|BMX_ENST00000348343.6_Missense_Mutation_p.L623M			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	623	Protein kinase.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					CCAGGTGGTTCTGAAGGTCTC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	137	145			NA	NA	X		NA											NA				15568034		2203	4300	6503	SO:0001583	missense			AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010	660	660		Pleckstrin homology (PH) domain containing, SH2 domain containing	1079	protein-coding gene	gene with protein product	BTK-like on X chromosome	300101			NA	7970727	Standard	NM_001721	NM_203281	NA	Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.1867C>A	X.37:g.15568034C>A	ENSP00000350224:p.Leu623Met	NA	A6NIH9|O60564|Q12871	37	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.644307	0.47258	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	D;D;D	0.82803	-1.65;-1.65;-1.65	5.68	1.82	0.25136	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.586451	0.16020	N	0.233329	T	0.70605	0.3243	N	0.17474	0.49	0.23636	N	0.997231	B	0.22541	0.071	B	0.31191	0.125	T	0.62353	-0.6872	10	0.72032	D	0.01	.	7.5313	0.27685	0.151:0.2529:0.5962:0.0	.	623	P51813	BMX_HUMAN	M	623	ENSP00000350224:L623M;ENSP00000308774:L623M;ENSP00000340082:L623M	ENSP00000340082:L623M	L	+	1	2	BMX	15477955	0.998000	0.40836	0.476000	0.27291	0.976000	0.68499	2.077000	0.41557	0.172000	0.19760	-0.223000	0.12442	CTG	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055877.1		+	ENST00000357607.2	Missense_Mutation	SNP	X : 15568034 - 15568034 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	630	160
FAM227B	196951	broad.mit.edu	37	15	49867255	49867255	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49867255C>T	ENST00000299338.6	-	8	901	c.598G>A	c.(598-600)Gct>Act	p.A200T	FAM227B_ENST00000561064.1_Missense_Mutation_p.A200T	NM_152647.2	NP_689860.2			family with sequence similarity 227, member B	NA											NA						TGCAAAAGAGCAATGGAGGCT	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	63	60			NA	NA	15		NA											NA				49867255		2196	4294	6490	SO:0001583	missense				CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262	196951	196951			26543	protein-coding gene	gene with protein product			chromosome 15 open reading frame 33	C15orf33	NA		Standard	NM_152647	NM_152647	NA	Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.598G>A	15.37:g.49867255C>T	ENSP00000299338:p.Ala200Thr	NA		37	CCDS32237.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.788075	0.70337	.	.	ENSG00000166262	ENST00000299338;ENST00000354658	.	.	.	4.73	3.79	0.43588	.	0.138981	0.34484	N	0.003927	T	0.74230	0.3689	M	0.80982	2.52	0.80722	D	1	P;D	0.56521	0.932;0.976	P;P	0.59171	0.543;0.853	T	0.77840	-0.2438	9	0.87932	D	0	-8.198	10.6668	0.45734	0.0:0.9063:0.0:0.0937	.	200;200	Q96M60-2;Q96M60	.;CO033_HUMAN	T	200	.	ENSP00000299338:A200T	A	-	1	0	C15orf33	47654547	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.467000	0.45093	2.473000	0.83533	0.462000	0.41574	GCT	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417872.1		-	ENST00000299338.6	Missense_Mutation	SNP	15 : 49867255 - 49867255 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	288	49
COL5A1	1289	broad.mit.edu	37	9	137710721	137710721	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137710721G>T	ENST00000371817.3	+	56	4780	c.4366G>T	c.(4366-4368)Ggc>Tgc	p.G1456C		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1456	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGATCCCCAGGCCCGGACGG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	50	50			NA	NA	9		NA											NA				137710721		2203	4300	6503	SO:0001583	missense			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635	1289	1289		Collagens	2209	protein-coding gene	gene with protein product	alpha 1 type V collagen	120215			NA	1572660	Standard	NM_000093	NM_001278074	NA	Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4366G>T	9.37:g.137710721G>T	ENSP00000360882:p.Gly1456Cys	NA	Q15094|Q5SUX4	37	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870760	0.72065	.	.	ENSG00000130635	ENST00000371817	D	0.99186	-5.53	4.69	4.69	0.59074	.	0.000000	0.85682	U	0.000000	D	0.99635	0.9866	H	0.98883	4.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97268	0.9909	10	0.87932	D	0	.	17.6063	0.88039	0.0:0.0:1.0:0.0	.	1456	P20908	CO5A1_HUMAN	C	1456	ENSP00000360882:G1456C	ENSP00000360882:G1456C	G	+	1	0	COL5A1	136850542	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.732000	0.98816	2.150000	0.67090	0.448000	0.29417	GGC	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054954.2		+	ENST00000371817.3	Missense_Mutation	SNP	9 : 137710721 - 137710721 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	346	55
NUP188	23511	broad.mit.edu	37	9	131749134	131749134	+	Silent	SNP	C	C	T	rs141269541		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131749134C>T	ENST00000372577.2	+	22	2265	c.2244C>T	c.(2242-2244)caC>caT	p.H748H		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	748					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ACCTGTGCCACGAGACAGACC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4405	2.1+/-5.4	0,1,2202	107	93	98		2244	-8.9	0.7	9	dbSNP_134	98	0,8600		0,0,4300	no	coding-synonymous	NUP188	NM_015354.1		0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077		748/1750	131749134	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319	23511	23511			17859	protein-coding gene	gene with protein product		615587	KIAA0169	KIAA0169	NA	11029043	Standard		NM_015354	NA	Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.2244C>T	9.37:g.131749134C>T		NA	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	37	CCDS35156.1																																																																																			NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054529.2		+	ENST00000372577.2	Silent	SNP	9 : 131749134 - 131749134 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	73
BEST1	7439	broad.mit.edu	37	11	61727416	61727416	+	Missense_Mutation	SNP	C	C	T	rs148326372		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61727416C>T	ENST00000534553.1	+	5	739				BEST1_ENST00000449131.2_Missense_Mutation_p.P274L|BEST1_ENST00000378043.4_Missense_Mutation_p.P334L|BEST1_ENST00000435278.2_Intron|BEST1_ENST00000526988.1_Missense_Mutation_p.R296W|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000378042.3_Missense_Mutation_p.P247L|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000301774.9_Intron			O76090	BEST1_HUMAN	bestrophin 1	NA					response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						CGGATGGAGCCGGACATGTAC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	LEU/PRO,LEU/PRO	0,4404		0,0,2202	69	59	62		821,1001	0.8	0.8	11	dbSNP_134	62	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	BEST1	NM_001139443.1,NM_004183.3	98,98	0,1,6500	TT,TC,CC	NA	0.0116,0.0,0.0077	benign,benign	274/605,334/586	61727416	1,13001	2202	4299	6501	SO:0001627	intron_variant			AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995	7439	7439		Ion channels / Chloride channels : Calcium activated : Bestrophins	12703	protein-coding gene	gene with protein product	Best disease	607854	vitelliform macular dystrophy 2	VMD2	NA	1302019, 17003041	Standard	NM_004183	NM_004183	NA	Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000534553.1:c.164-2311C>T	11.37:g.61727416C>T		NA	A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.75|15.75	2.926903|2.926903	0.52759|0.52759	0.0|0.0	1.16E-4|1.16E-4	ENSG00000167995|ENSG00000167995	ENST00000378043;ENST00000378042;ENST00000449131|ENST00000526988	D;D;D|D	0.96802|0.99158	-4.13;-3.81;-4.08|-5.5	5.02|5.02	0.81|0.81	0.18732|0.18732	.|.	0.563498|.	0.18960|.	N|.	0.126429|.	D|D	0.95717|0.95717	0.8607|0.8607	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B;B|D;D	0.31227|0.69078	0.314;0.13;0.314|0.997;0.997	B;B;B|P;P	0.21360|0.49637	0.024;0.011;0.034|0.617;0.617	D|D	0.92229|0.92229	0.5791|0.5791	10|9	0.87932|0.66056	D|D	0|0.02	-11.183|-11.183	5.1413|5.1413	0.14961|0.14961	0.4175:0.1753:0.4072:0.0|0.4175:0.1753:0.4072:0.0	.|.	247;334;274|296;342	O76090-4;O76090;O76090-3|B7Z1N8;B7Z336	.;BEST1_HUMAN;.|.;.	L|W	334;247;274|296	ENSP00000367282:P334L;ENSP00000367281:P247L;ENSP00000399709:P274L|ENSP00000433195:R296W	ENSP00000367281:P247L|ENSP00000432681:R402W	P|R	+|+	2|1	0|2	BEST1|BEST1	61483992|61483992	1.000000|1.000000	0.71417|0.71417	0.755000|0.755000	0.31263|0.31263	0.223000|0.223000	0.24884|0.24884	2.021000|2.021000	0.41020|0.41020	0.204000|0.204000	0.20548|0.20548	-0.300000|-0.300000	0.09419|0.09419	CCG|CGG	BEST1-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000394716.2		+	ENST00000534553.1	Intron	SNP	11 : 61727416 - 61727416 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	131	15
CCRL2	9034	broad.mit.edu	37	3	46450274	46450274	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46450274G>A	ENST00000399036.3	+	2	1056	c.704G>A	c.(703-705)aGc>aAc	p.S235N	CCRL2_ENST00000400880.3_Missense_Mutation_p.S235N|CCRL2_ENST00000357392.4_Missense_Mutation_p.S247N|CCRL2_ENST00000400882.2_Missense_Mutation_p.S235N	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2	NA					chemotaxis|inflammatory response	integral to plasma membrane	CCR chemokine receptor binding|chemokine receptor activity			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		CAGAGGTATAGCCTTTTCAAG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													211	210	210			NA	NA	3		NA											NA				46450274		1917	4114	6031	SO:0001583	missense			AF014958	CCDS43079.1, CCDS46814.1	3p21	2013-07-18	2013-07-18	2013-07-18	ENSG00000121797	ENSG00000121797	NA	9034		GPCR / Class A : Chemokine receptors : Atypical	1612	protein-coding gene	gene with protein product	atypical chemokine receptor 5	608379			NA	9473515	Standard		NM_001130910	NA	Approved	HCR, CRAM-B, CKRX, CRAM-A, ACKR5	uc003cpp.4	O00421	OTTHUMG00000156318	ENST00000399036.3:c.704G>A	3.37:g.46450274G>A	ENSP00000381994:p.Ser235Asn	NA	B4DKQ8|O75307|Q4VBB0|Q6IPX0|Q96KP5|Q9UPG0	37	CCDS43079.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382199	0.24944	.	.	ENSG00000121797	ENST00000399036;ENST00000357392;ENST00000400880;ENST00000400882	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	4.49	-4.73	0.03259	GPCR, rhodopsin-like superfamily (1);	2.259790	0.02401	N	0.080709	T	0.23410	0.0566	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.004;0.005	B;B	0.19946	0.016;0.027	T	0.39522	-0.9610	10	0.72032	D	0.01	.	14.0252	0.64582	0.3336:0.0:0.6664:0.0	.	247;235	O00421-2;O00421	.;CCRL2_HUMAN	N	235;247;235;235	ENSP00000381994:S235N;ENSP00000349967:S247N;ENSP00000383677:S235N;ENSP00000383678:S235N	ENSP00000349967:S247N	S	+	2	0	CCRL2	46425278	0.000000	0.05858	0.000000	0.03702	0.117000	0.20001	-0.703000	0.05063	-0.747000	0.04759	-0.350000	0.07774	AGC	CCRL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343909.2		+	ENST00000399036.3	Missense_Mutation	SNP	3 : 46450274 - 46450274 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1512	266
MRPS30	10884	broad.mit.edu	37	5	44812023	44812023	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:44812023C>T	ENST00000507110.1	+	3	792	c.754C>T	c.(754-756)Cca>Tca	p.P252S		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	252					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					TAAGTTTGTGCCATTGGATTA	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	67	66			NA	NA	5		NA											NA				44812023		2203	4298	6501	SO:0001583	missense			AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996	10884	10884		Mitochondrial ribosomal proteins / small subunits	8769	protein-coding gene	gene with protein product		611991		PDCD9	NA	10640817, 11279123	Standard	NM_016640	NM_016640	NA	Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.754C>T	5.37:g.44812023C>T	ENSP00000424328:p.Pro252Ser	NA	Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	37	CCDS3951.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.386818	0.42308	.	.	ENSG00000112996	ENST00000507110	T	0.16196	2.36	5.46	4.54	0.55810	.	0.273592	0.42294	D	0.000728	T	0.35740	0.0942	M	0.62016	1.91	0.48901	D	0.999723	D	0.89917	1.0	D	0.72075	0.976	T	0.01956	-1.1240	10	0.24483	T	0.36	-8.3727	14.0727	0.64870	0.0:0.8497:0.1503:0.0	.	252	Q9NP92	RT30_HUMAN	S	252	ENSP00000424328:P252S	ENSP00000424328:P252S	P	+	1	0	MRPS30	44847780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.298000	0.51818	2.550000	0.86006	0.655000	0.94253	CCA	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214033.2		+	ENST00000507110.1	Missense_Mutation	SNP	5 : 44812023 - 44812023 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	244	48
AGR2	10551	broad.mit.edu	37	7	16834575	16834575	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:16834575C>T	ENST00000419304.2	-	7	615	c.463G>A	c.(463-465)Gca>Aca	p.A155T	AGR2_ENST00000401412.1_Missense_Mutation_p.A155T|AGR2_ENST00000419572.2_Missense_Mutation_p.A175T	NM_006408.3	NP_006399.1	O95994	AGR2_HUMAN	anterior gradient 2	155					mucus secretion	endoplasmic reticulum|extracellular region	protein binding			endometrium(2)|lung(1)|prostate(1)|skin(2)	6	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		GCTGTATCTGCAGGTTCGTAA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	120	131			NA	NA	7		NA											NA				16834575		2203	4300	6503	SO:0001583	missense			AF038451	CCDS5364.1	7p21.3	2013-07-31	2013-07-31		ENSG00000106541	ENSG00000106541	10551	10551		Protein disulfide isomerases	328	protein-coding gene	gene with protein product	protein disulfide isomerase family A, member 17	606358	anterior gradient 2 homolog (Xenopus laevis)		NA	9790916	Standard	NM_006408	NM_006408	NA	Approved	XAG-2, HAG-2, AG2, PDIA17	uc003str.3	O95994	OTTHUMG00000023446	ENST00000419304.2:c.463G>A	7.37:g.16834575C>T	ENSP00000391490:p.Ala155Thr	NA		37	CCDS5364.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.514783	0.27123	.	.	ENSG00000106541	ENST00000419304;ENST00000450569;ENST00000419572;ENST00000401412	.	.	.	5.65	0.0928	0.14474	.	0.354493	0.28104	N	0.016599	T	0.27384	0.0672	L	0.46157	1.445	0.28199	N	0.927427	B	0.02656	0.0	B	0.01281	0.0	T	0.09729	-1.0661	9	0.35671	T	0.21	-13.2225	2.4542	0.04525	0.4416:0.2555:0.0657:0.2372	.	155	O95994	AGR2_HUMAN	T	155;85;175;155	.	ENSP00000386025:A155T	A	-	1	0	AGR2	16801100	0.444000	0.25649	0.856000	0.33681	0.597000	0.36814	0.228000	0.17814	0.082000	0.17018	-2.055000	0.00403	GCA	AGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207594.2		-	ENST00000419304.2	Missense_Mutation	SNP	7 : 16834575 - 16834575 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	42
SCRN1	9805	broad.mit.edu	37	7	29963698	29963698	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:29963698C>A	ENST00000426154.1	-	8	1296	c.1120G>T	c.(1120-1122)Gag>Tag	p.E374*	SCRN1_ENST00000434476.2_Nonsense_Mutation_p.E394*|SCRN1_ENST00000416113.2_Nonsense_Mutation_p.E200*|SCRN1_ENST00000242059.5_Nonsense_Mutation_p.E374*|SCRN1_ENST00000409497.1_Nonsense_Mutation_p.E374*|SCRN1_ENST00000425819.2_Nonsense_Mutation_p.E306*	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	374					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						TTCTCCAGCTCCAGCATGGTG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	75	77			NA	NA	7		NA											NA				29963698		2203	4300	6503	SO:0001587	stop_gained			D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193	9805	9805			22192	protein-coding gene	gene with protein product		614965			NA	12221138	Standard	NM_014766	NM_014766	NA	Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.1120G>T	7.37:g.29963698C>A	ENSP00000409068:p.Glu374*	NA	A8K0E9|Q25QX7|Q8IWD1	37	CCDS5422.1	.	.	.	.	.	.	.	.	.	.	C	35	5.430932	0.96150	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000425819;ENST00000544388;ENST00000409497;ENST00000416113;ENST00000434476	.	.	.	4.59	4.59	0.56863	.	0.073478	0.56097	D	0.000040	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-15.3403	16.3318	0.83023	0.0:1.0:0.0:0.0	.	.	.	.	X	374;374;306;178;374;200;394	.	ENSP00000242059:E374X	E	-	1	0	SCRN1	29930223	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.291000	0.65667	2.249000	0.74217	0.561000	0.74099	GAG	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214231.2		-	ENST00000426154.1	Nonsense_Mutation	SNP	7 : 29963698 - 29963698 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	453	92
PCDHGA2	56113	broad.mit.edu	37	5	140719676	140719676	+	Missense_Mutation	SNP	G	G	A	rs149474643	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140719676G>A	ENST00000394576.2	+	1	1138	c.1138G>A	c.(1138-1140)Gca>Aca	p.A380T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1			protocadherin gamma subfamily A, 2	NA										breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCAGAACGCATTCACCAC	0.433		NA												1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0													81	83	82			NA	NA	5		NA											NA				140719676		2203	4300	6503	SO:0001583	missense			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853	56113	56113		Cadherins / Protocadherins : Clustered	8700	other	protocadherin		606289			NA	10380929	Standard	NM_018915	NM_018915	NA	Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1138G>A	5.37:g.140719676G>A	ENSP00000378077:p.Ala380Thr	NA		37	CCDS47289.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	16.25	3.069835	0.55539	.	.	ENSG00000081853	ENST00000394576	T	0.01838	4.61	4.9	4.9	0.64082	Cadherin (4);Cadherin-like (1);	0.182113	0.25427	U	0.030741	T	0.05318	0.0141	N	0.16567	0.415	0.36952	D	0.892929	D;D	0.65815	0.995;0.986	P;P	0.59357	0.856;0.804	T	0.53592	-0.8417	10	0.87932	D	0	.	18.0539	0.89358	0.0:0.0:1.0:0.0	.	380;380	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	T	380	ENSP00000378077:A380T	ENSP00000378077:A380T	A	+	1	0	PCDHGA2	140699860	1.000000	0.71417	0.994000	0.49952	0.020000	0.10135	5.407000	0.66363	2.434000	0.82447	0.462000	0.41574	GCA	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374738.1		+	ENST00000394576.2	Missense_Mutation	SNP	5 : 140719676 - 140719676 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	517	83
OTUD4	54726	broad.mit.edu	37	4	146058757	146058757	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146058757C>T	ENST00000454497.2	-	21	3112	c.2975G>A	c.(2974-2976)gGc>gAc	p.G992D	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.G1057D	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	1056							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					ACCAGAATAGCCCCAATCACT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													242	236	238			NA	NA	4		NA											NA				146058757		2203	4300	6503	SO:0001583	missense				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164	54726	54726		OTU domain containing	24949	protein-coding gene	gene with protein product		611744	OTU domain containing 4		NA	1475186, 12727813, 19996094	Standard	NM_017493	NM_001102653	NA	Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000454497.2:c.2975G>A	4.37:g.146058757C>T	ENSP00000409279:p.Gly992Asp	NA	B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	37	CCDS47139.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.840269	0.32513	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.34667	1.36;1.35	6.17	5.29	0.74685	.	0.324146	0.30859	N	0.008727	T	0.26810	0.0656	L	0.29908	0.895	0.80722	D	1	P;P	0.46512	0.879;0.808	B;B	0.40940	0.344;0.186	T	0.01675	-1.1298	10	0.51188	T	0.08	-5.5415	10.4324	0.44415	0.0:0.7961:0.1351:0.0688	.	1057;1056	G3V0I6;Q01804	.;OTUD4_HUMAN	D	992;1057	ENSP00000409279:G992D;ENSP00000395487:G1057D	ENSP00000395487:G1057D	G	-	2	0	OTUD4	146278207	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.756000	0.47549	2.941000	0.99782	0.655000	0.94253	GGC	OTUD4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365114.1		-	ENST00000454497.2	Missense_Mutation	SNP	4 : 146058757 - 146058757 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1321	250
POU4F2	5458	broad.mit.edu	37	4	147561477	147561477	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:147561477C>T	ENST00000281321.3	+	2	995	c.747C>T	c.(745-747)agC>agT	p.S249S		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	249					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					GCTGCATGAGCGACGTGGACG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	18	17			NA	NA	4		NA											NA				147561477		2194	4294	6488	SO:0001819	synonymous_variant			U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13				5458	5458		Homeoboxes / POU class	9219	protein-coding gene	gene with protein product		113725	POU domain, class 4, transcription factor 2, POU domain class 4, transcription factor 2	BRN3B	NA	8332509	Standard	NM_004575	NM_004575	NA	Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.747C>T	4.37:g.147561477C>T		NA	B1PJR6|B2RC84|Q13883|Q14987	37	CCDS34074.1																																																																																			POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367020.1		+	ENST00000281321.3	Silent	SNP	4 : 147561477 - 147561477 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	151	33
MCM3AP	8888	broad.mit.edu	37	21	47692708	47692708	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47692708C>T	ENST00000397708.1	-	9	2486	c.2232G>A	c.(2230-2232)acG>acA	p.T744T	MCM3AP_ENST00000291688.1_Silent_p.T744T			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	744					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	p.T744T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TCAGGGACACCGTCAGGGGGT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	endometrium(1)											96	79	85			NA	NA	21		NA											NA				47692708		2203	4300	6503	SO:0001819	synonymous_variant			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294	8888	8888			6946	protein-coding gene	gene with protein product	germinal-centre associated nuclear protein	603294	minichromosome maintenance deficient (S. cerevisiae) 3-associated protein, MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein		NA	9712829, 16914116, 21195085	Standard	NM_003906	XM_005261205	NA	Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.2232G>A	21.37:g.47692708C>T		NA	Q2M3C1|Q9UMT4	37	CCDS13734.1																																																																																			MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207254.1		-	ENST00000397708.1	Silent	SNP	21 : 47692708 - 47692708 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	351	60
FAF1	11124	broad.mit.edu	37	1	51005376	51005376	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:51005376G>T	ENST00000396153.2	-	14	1744	c.1293C>A	c.(1291-1293)caC>caA	p.H431Q	FAF1_ENST00000545823.1_Missense_Mutation_p.H189Q|FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000371778.4_Missense_Mutation_p.H431Q	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	431					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CACTGCCAAAGTGTCTATTGC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Whole gene deletion(1)	thyroid(1)											63	62	62			NA	NA	1		NA											NA				51005376		2203	4300	6503	SO:0001583	missense			AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104	11124	11124		UBX domain containing	3578	protein-coding gene	gene with protein product	TNFRSF6-associated factor 1, UBX domain protein 3A	604460			NA	10462485	Standard	NM_007051	NM_007051	NA	Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.1293C>A	1.37:g.51005376G>T	ENSP00000379457:p.His431Gln	NA	Q9UF34|Q9UNT3|Q9Y2Z3	37	CCDS554.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332629	0.41297	.	.	ENSG00000185104	ENST00000396153;ENST00000371778;ENST00000545823;ENST00000371780;ENST00000543607	.	.	.	5.9	-0.835	0.10775	UAS (1);	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	L	0.47716	1.5	0.49582	D	0.999807	D;D	0.58970	0.984;0.984	P;P	0.51945	0.685;0.685	T	0.48703	-0.9012	9	0.11182	T	0.66	-33.0452	6.8217	0.23861	0.4533:0.0:0.4386:0.1081	.	189;431	B4DEJ6;Q9UNN5	.;FAF1_HUMAN	Q	431;431;189;271;279	.	ENSP00000360843:H431Q	H	-	3	2	FAF1	50777964	1.000000	0.71417	0.982000	0.44146	0.218000	0.24690	0.848000	0.27710	-0.417000	0.07461	-0.345000	0.07892	CAC	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021807.1		-	ENST00000396153.2	Missense_Mutation	SNP	1 : 51005376 - 51005376 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	136	8
DYNC2H1	79659	broad.mit.edu	37	11	103191850	103191850	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103191850C>T	ENST00000375735.2	+	81	11962	c.11818C>T	c.(11818-11820)Ctt>Ttt	p.L3940F	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L3947F|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3940					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CCTTAGAGTTCTTCAGTCATA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	88	90			NA	NA	11		NA											NA				103191850		1816	4080	5896	SO:0001583	missense			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240	79659	79659		Cytoplasmic dyneins	2962	protein-coding gene	gene with protein product		603297	dynein, cytoplasmic, heavy polypeptide 2	DNCH2	NA	9763680, 9373155	Standard	XM_370652	NM_001080463	NA	Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.11818C>T	11.37:g.103191850C>T	ENSP00000364887:p.Leu3940Phe	NA	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204404	0.79127	.	.	ENSG00000187240	ENST00000375735;ENST00000398093;ENST00000540621	T;T	0.12255	2.7;2.7	5.72	5.72	0.89469	Dynein heavy chain (1);	0.134693	0.50627	D	0.000104	T	0.49541	0.1563	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.58691	-0.7592	10	0.72032	D	0.01	.	19.8551	0.96755	0.0:1.0:0.0:0.0	.	3940;3947	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	F	3940;3947;186	ENSP00000364887:L3940F;ENSP00000381167:L3947F	ENSP00000364887:L3940F	L	+	1	0	DYNC2H1	102697060	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.626000	0.46460	2.705000	0.92388	0.650000	0.86243	CTT	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387196.1		+	ENST00000375735.2	Missense_Mutation	SNP	11 : 103191850 - 103191850 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	96	18
KPTN	11133	broad.mit.edu	37	19	47979831	47979831	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47979831C>T	ENST00000338134.3	-	11	1247	c.1140G>A	c.(1138-1140)caG>caA	p.Q380Q	KPTN_ENST00000536339.1_Silent_p.Q140Q	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	380					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		CGGCAAGCTCCTGCAGCCCAT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	27	26			NA	NA	19		NA											NA				47979831		2056	4190	6246	SO:0001819	synonymous_variant			AF105369	CCDS42583.1	19q13.32	2014-08-13	2001-11-28		ENSG00000118162	ENSG00000118162	11133	11133			6404	protein-coding gene	gene with protein product		615620	kaptin (actin-binding protein)		NA	10099934	Standard		XM_005258467	NA	Approved	2E4	uc002pgy.3	Q9Y664	OTTHUMG00000183443	ENST00000338134.3:c.1140G>A	19.37:g.47979831C>T		NA	B3KN86|Q96GT1	37	CCDS42583.1																																																																																			KPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466672.2		-	ENST00000338134.3	Silent	SNP	19 : 47979831 - 47979831 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	43
ZNF716	441234	broad.mit.edu	37	7	57528762	57528762	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:57528762C>T	ENST00000420713.1	+	4	707	c.595C>T	c.(595-597)Cgc>Tgc	p.R199C		NM_001159279.1	NP_001152751.1			zinc finger protein 716	NA										breast(1)|kidney(1)|lung(20)|ovary(2)	24						CATGCTTTCACGCCTAAATCA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG	0,1384		0,0,692	66	57	60		595	0.2	0.1	7		60	1,3181		0,1,1590	no	missense	ZNF716	NM_001159279.1	180	0,1,2282	TT,TC,CC	NA	0.0314,0.0,0.0219	possibly-damaging	199/496	57528762	1,4565	692	1591	2283	SO:0001583	missense			AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111	441234	441234		Zinc fingers, C2H2-type, -	32458	protein-coding gene	gene with protein product					NA		Standard	NM_001159279	NM_001159279	NA	Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.595C>T	7.37:g.57528762C>T	ENSP00000394248:p.Arg199Cys	NA		37	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	C	3.296	-0.143924	0.06627	0.0	3.14E-4	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.15256	2.44	0.195	0.195	0.15151	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06735	0.0172	L	0.28014	0.82	0.09310	N	1	P	0.52842	0.956	B	0.28784	0.094	T	0.32534	-0.9903	9	0.51188	T	0.08	.	2.6947	0.05130	0.0:0.5591:0.0:0.4409	.	187	A6NP11	ZN716_HUMAN	C	199;187	ENSP00000394248:R199C	ENSP00000387687:R187C	R	+	1	0	ZNF716	57532704	0.000000	0.05858	0.063000	0.19743	0.063000	0.16089	-6.383000	0.00068	0.300000	0.22699	0.306000	0.20318	CGC	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345309.1		+	ENST00000420713.1	Missense_Mutation	SNP	7 : 57528762 - 57528762 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	80	12
KCNH4	23415	broad.mit.edu	37	17	40330471	40330471	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40330471T>C	ENST00000264661.3	-	3	667	c.335A>G	c.(334-336)gAc>gGc	p.D112G	KCNH4_ENST00000607371.1_Missense_Mutation_p.D112G	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	112	PAC.				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGGCATCATGTCCAGGAGGCA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(117;707 1703 2300 21308 31858)							NA				0													49	41	44			NA	NA	17		NA											NA				40330471		2203	4300	6503	SO:0001583	missense			AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558	23415	23415		Potassium channels, Voltage-gated ion channels / Potassium channels	6253	protein-coding gene	gene with protein product		604528			NA	10455180, 16382104	Standard	NM_012285	NM_012285	NA	Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.335A>G	17.37:g.40330471T>C	ENSP00000264661:p.Asp112Gly	NA		37	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.330240	0.81690	.	.	ENSG00000089558	ENST00000264661	D	0.99578	-6.21	4.99	4.99	0.66335	PAS-associated, C-terminal (1);PAS fold-3 (1);PAS (1);	0.000000	0.42682	D	0.000662	D	0.99638	0.9867	M	0.91459	3.21	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	D	0.97871	1.0286	10	0.72032	D	0.01	.	12.0825	0.53680	0.0:0.0:0.143:0.8569	.	112	Q9UQ05	KCNH4_HUMAN	G	112	ENSP00000264661:D112G	ENSP00000264661:D112G	D	-	2	0	KCNH4	37583997	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.520000	0.53465	2.090000	0.63153	0.460000	0.39030	GAC	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449791.2		-	ENST00000264661.3	Missense_Mutation	SNP	17 : 40330471 - 40330471 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	156	25
AGBL1	123624	broad.mit.edu	37	15	87217645	87217645	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:87217645G>A	ENST00000441037.2	+	22	3156	c.3061G>A	c.(3061-3063)Gct>Act	p.A1021T	AGBL1_ENST00000421325.2_Missense_Mutation_p.A1021T|AGBL1_ENST00000389298.3_Missense_Mutation_p.A752T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	1021					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TGAGGAGGACGCTCTGGACCA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA	0,3976		0,0,1988	40	40	40		3061	-0.5	0	15		40	2,8310		0,2,4154	no	missense	AGBL1	NM_152336.2	58	0,2,6142	AA,AG,GG	NA	0.0241,0.0,0.0163	benign	1021/1067	87217645	2,12286	1988	4156	6144	SO:0001583	missense			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748	123624	123624			26504	protein-coding gene	gene with protein product	cytosolic carboxypeptidase 4	615496			NA	21074048, 24094747	Standard	NM_152336	NM_152336	NA	Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.3061G>A	15.37:g.87217645G>A	ENSP00000413001:p.Ala1021Thr	NA	A1A4X5|A6NJH6|C9JHL5	37	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890460	0.33348	0.0	2.41E-4	ENSG00000166748	ENST00000421325;ENST00000389298	T;T	0.10099	2.92;2.91	5.63	-0.477	0.12097	.	.	.	.	.	T	0.04634	0.0126	N	0.14661	0.345	0.09310	N	1	B	0.16166	0.016	B	0.06405	0.002	T	0.45101	-0.9284	9	0.16420	T	0.52	-0.0733	3.0314	0.06108	0.3053:0.0:0.3541:0.3407	.	1021	Q96MI9	CBPC4_HUMAN	T	1021;752	ENSP00000397173:A1021T;ENSP00000373949:A752T	ENSP00000373949:A752T	A	+	1	0	AGBL1	85018649	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.408000	0.07169	0.301000	0.22738	-0.222000	0.12452	GCT	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000314929.5		+	ENST00000441037.2	Missense_Mutation	SNP	15 : 87217645 - 87217645 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	123	20
CHRND	1144	broad.mit.edu	37	2	233394759	233394759	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233394759C>T	ENST00000258385.3	+	7	762	c.730C>T	c.(730-732)Cgc>Tgc	p.R244C	CHRND_ENST00000457943.2_Intron|CHRND_ENST00000543200.1_Missense_Mutation_p.R229C|CHRND_ENST00000536614.1_Missense_Mutation_p.P207L	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	244					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		CATCATCCGCCGCAAGCCCCT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG	0,4406		0,0,2203	175	144	155		730	4.3	1	2		155	1,8599	1.2+/-3.3	0,1,4299	no	missense	CHRND	NM_000751.1	180	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	244/518	233394759	1,13005	2203	4300	6503	SO:0001583	missense			X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902	1144	1144		Cholinergic receptors, Ligand-gated ion channels / Acetylcholine receptors, nicotinic	1965	protein-coding gene	gene with protein product	acetylcholine receptor, nicotinic, delta (muscle)	100720	cholinergic receptor, nicotinic, delta	ACHRD	NA		Standard		NM_000751	NA	Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.730C>T	2.37:g.233394759C>T	ENSP00000258385:p.Arg244Cys	NA	Q52LH4	37	CCDS2494.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.1|20.1	3.940607|3.940607	0.73557|0.73557	0.0|0.0	1.16E-4|1.16E-4	ENSG00000135902|ENSG00000135902	ENST00000536614|ENST00000543200;ENST00000258385	T|D;D	0.75050|0.96830	-0.9|-4.14;-4.14	5.18|5.18	4.26|4.26	0.50523|0.50523	.|Neurotransmitter-gated ion-channel ligand-binding (3);	.|0.048932	.|0.85682	.|D	.|0.000000	D|D	0.98896|0.98896	0.9626|0.9626	H|H	0.98577|0.98577	4.27|4.27	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	D|D	0.98858|0.98858	1.0761|1.0761	7|10	0.56958|0.87932	D|D	0.05|0	.|.	15.7298|15.7298	0.77792|0.77792	0.1366:0.8634:0.0:0.0|0.1366:0.8634:0.0:0.0	.|.	.|229;244;244	.|B4DT92;A8K661;Q07001	.|.;.;ACHD_HUMAN	L|C	207|229;244	ENSP00000437740:P207L|ENSP00000438380:R229C;ENSP00000258385:R244C	ENSP00000408819:P207L|ENSP00000258385:R244C	P|R	+|+	2|1	0|0	CHRND|CHRND	233103003|233103003	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.975000|1.975000	0.40569|0.40569	2.605000|2.605000	0.88082|0.88082	0.655000|0.655000	0.94253|0.94253	CCG|CGC	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257038.2		+	ENST00000258385.3	Missense_Mutation	SNP	2 : 233394759 - 233394759 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	749	136
EPB41L4B	54566	broad.mit.edu	37	9	112017853	112017853	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112017853C>T	ENST00000374566.3	-	11	1624	c.1107G>A	c.(1105-1107)acG>acA	p.T369T	EPB41L4B_ENST00000374557.4_Silent_p.T369T	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	369	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTTTCCTGGCGTCCGCAGTC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	2,3888		0,2,1943	120	112	115		1107,1107	-4.4	0	9		115	0,8302		0,0,4151	no	coding-synonymous,coding-synonymous	EPB41L4B	NM_018424.2,NM_019114.3	,	0,2,6094	TT,TC,CC	NA	0.0,0.0514,0.0164	,	369/519,369/901	112017853	2,12190	1945	4151	6096	SO:0001819	synonymous_variant			AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203	54566	54566			19818	protein-coding gene	gene with protein product		610340			NA	10783258	Standard	NM_018424	NM_018424	NA	Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1107G>A	9.37:g.112017853C>T		NA	Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	37	CCDS43859.1																																																																																			EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053592.1		-	ENST00000374566.3	Silent	SNP	9 : 112017853 - 112017853 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	455	84
TM4SF20	79853	broad.mit.edu	37	2	228230946	228230946	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228230946T>G	ENST00000304568.3	-	3	301	c.264A>C	c.(262-264)tcA>tcC	p.S88S		NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	88						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		CACTGAAAAGTGATGAAAGAA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	102	104			NA	NA	2		NA											NA				228230946		2203	4300	6503	SO:0001819	synonymous_variant			AK026453	CCDS2466.1	2q36.3	2008-02-05			ENSG00000168955	ENSG00000168955	79853	79853			26230	protein-coding gene	gene with protein product		615404			NA	12975309	Standard	NM_024795	NM_024795	NA	Approved	FLJ22800, TCCE518	uc002vpb.2	Q53R12	OTTHUMG00000133187	ENST00000304568.3:c.264A>C	2.37:g.228230946T>G		NA	B2RP42|Q5U609|Q6UWS1|Q9H5X9	37	CCDS2466.1																																																																																			TM4SF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256896.2		-	ENST00000304568.3	Silent	SNP	2 : 228230946 - 228230946 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	305	82
NKAPL	222698	broad.mit.edu	37	6	28228254	28228254	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28228254C>A	ENST00000343684.3	+	1	1157	c.1105C>A	c.(1105-1107)Ctt>Att	p.L369I		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	369										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GAAGAGAGCTCTTGCATCCTT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	142	146			NA	NA	6		NA											NA				28228254		2203	4300	6503	SO:0001583	missense			BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134	222698	222698			21584	protein-coding gene	gene with protein product			chromosome 6 open reading frame 194	C6orf194	NA		Standard		NM_001007531	NA	Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.1105C>A	6.37:g.28228254C>A	ENSP00000345716:p.Leu369Ile	NA	Q3MIV1|Q9H4Q7	37	CCDS34353.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645815	0.87958	.	.	ENSG00000189134	ENST00000343684	T	0.23754	1.89	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.42517	0.1206	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.33189	-0.9878	10	0.59425	D	0.04	-9.0374	15.3886	0.74723	0.0:1.0:0.0:0.0	.	369	Q5M9Q1	NKAPL_HUMAN	I	369	ENSP00000345716:L369I	ENSP00000345716:L369I	L	+	1	0	NKAPL	28336233	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.478000	0.81082	2.563000	0.86464	0.655000	0.94253	CTT	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040185.1		+	ENST00000343684.3	Missense_Mutation	SNP	6 : 28228254 - 28228254 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	460	85
TRIM26	7726	broad.mit.edu	37	6	30166750	30166750	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30166750C>T	ENST00000454678.2	-	4	567	c.131G>A	c.(130-132)cGc>cAc	p.R44H	TRIM26_ENST00000453195.1_Missense_Mutation_p.R44H|TRIM26_ENST00000437089.1_Missense_Mutation_p.R44H|TRIM26_ENST00000487829.1_5'UTR	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	44							DNA binding|zinc ion binding			lung(1)|ovary(2)	3						TGAGATGGGGCGGACGTCTGT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG,HIS/ARG	0,3020		0,0,1510	48	45	46		131,131	5.6	0.9	6		46	1,5417		0,1,2708	no	missense,missense	TRIM26	NM_003449.4,NM_001242783.1	29,29	0,1,4218	TT,TC,CC	NA	0.0185,0.0,0.0119	benign,benign	44/540,44/540	30166750	1,8437	1510	2709	4219	SO:0001583	missense			AB088090	CCDS4678.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000234127	ENSG00000234127	7726	7726		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	12962	protein-coding gene	gene with protein product		600830	tripartite motif-containing 26	ZNF173	NA	8530076	Standard	NM_003449	NM_003449	NA	Approved	RNF95	uc003npt.3	Q12899	OTTHUMG00000031041	ENST00000454678.2:c.131G>A	6.37:g.30166750C>T	ENSP00000410446:p.Arg44His	NA		37	CCDS4678.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116427	0.37339	0.0	1.85E-4	ENSG00000234127	ENST00000453195;ENST00000454678;ENST00000437089;ENST00000416596;ENST00000420345;ENST00000418026;ENST00000434785	T;T;T;T;T;T	0.08282	3.11;3.11;3.11;3.11;3.11;3.11	5.59	5.59	0.84812	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.265447	0.27302	N	0.019995	T	0.04634	0.0126	L	0.58354	1.805	0.38578	D	0.950108	B	0.32245	0.361	B	0.22753	0.041	T	0.32587	-0.9901	10	0.22109	T	0.4	.	17.0723	0.86578	0.0:1.0:0.0:0.0	.	44	Q12899	TRI26_HUMAN	H	44	ENSP00000391879:R44H;ENSP00000410446:R44H;ENSP00000395491:R44H;ENSP00000413673:R44H;ENSP00000387530:R44H;ENSP00000400920:R44H	ENSP00000413673:R44H	R	-	2	0	TRIM26	30274729	0.002000	0.14202	0.911000	0.35937	0.044000	0.14063	-0.183000	0.09712	2.631000	0.89168	0.643000	0.83706	CGC	TRIM26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253442.1		-	ENST00000454678.2	Missense_Mutation	SNP	6 : 30166750 - 30166750 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	260	40
DDR1	780	broad.mit.edu	37	6	30860251	30860251	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30860251G>A	ENST00000508312.1	+	8	1337	c.1085G>A	c.(1084-1086)cGc>cAc	p.R362H	DDR1_ENST00000376567.2_Missense_Mutation_p.R344H|DDR1_ENST00000376570.4_Missense_Mutation_p.R344H|DDR1_ENST00000376568.3_Missense_Mutation_p.R344H|DDR1_ENST00000376569.3_Missense_Mutation_p.R344H|DDR1_ENST00000324771.8_Missense_Mutation_p.R344H|DDR1_ENST00000361741.4_Missense_Mutation_p.R75H|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000454612.2_Missense_Mutation_p.R344H|DDR1_ENST00000452441.1_Missense_Mutation_p.R344H|DDR1_ENST00000513240.1_Missense_Mutation_p.R344H|DDR1_ENST00000376575.3_Missense_Mutation_p.R344H|DDR1_ENST00000418800.2_Missense_Mutation_p.R344H	NM_001202523.1	NP_001189452.1	Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	344					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CGTGTGGCTCGCTTTCTGCAG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	48	46			NA	NA	6		NA											NA				30860251		2203	4300	6503	SO:0001583	missense			X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	780	780	2.7.10.1	CD molecules	2730	protein-coding gene	gene with protein product		600408	discoidin domain receptor family, member 1	NTRK4, PTK3A, NEP, CAK, EDDR1	NA	7789998	Standard	NM_013994	NM_001954	NA	Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000508312.1:c.1085G>A	6.37:g.30860251G>A	ENSP00000422442:p.Arg362His	NA	B5A975|B5A976|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	37	CCDS56411.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557681	0.65425	.	.	ENSG00000204580	ENST00000324771;ENST00000418800;ENST00000454612;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000376567;ENST00000513240;ENST00000417521;ENST00000361741;ENST00000451954	T;T;T;T;T;T;T;T;T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96	4.23	4.23	0.50019	.	0.077813	0.53938	D	0.000046	T	0.34250	0.0891	M	0.72894	2.215	0.37933	D	0.93207	D;D;D;D	0.89917	0.993;1.0;0.996;0.988	P;D;P;P	0.78314	0.481;0.991;0.872;0.517	T	0.15752	-1.0426	9	.	.	.	.	14.1192	0.65175	0.0:0.0:1.0:0.0	.	362;140;344;344	B7Z2K0;A2ABM8;Q08345-5;Q08345	.;.;.;DDR1_HUMAN	H	344;344;344;344;344;344;344;344;362;344;344;140;75;27	ENSP00000318217:R344H;ENSP00000407699:R344H;ENSP00000406091:R344H;ENSP00000365753:R344H;ENSP00000365759:R344H;ENSP00000365754:R344H;ENSP00000365752:R344H;ENSP00000405039:R344H;ENSP00000422442:R362H;ENSP00000365751:R344H;ENSP00000427552:R344H;ENSP00000398682:R140H;ENSP00000354844:R75H	.	R	+	2	0	DDR1	30968230	0.976000	0.34144	0.987000	0.45799	0.592000	0.36648	3.524000	0.53495	1.905000	0.55150	0.462000	0.41574	CGC	DDR1-020	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369045.2		+	ENST00000508312.1	Missense_Mutation	SNP	6 : 30860251 - 30860251 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	494	87
FN1	2335	broad.mit.edu	37	2	216251446	216251446	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216251446C>T	ENST00000354785.4	-	28	4947	c.4578G>A	c.(4576-4578)gaG>gaA	p.E1526E	FN1_ENST00000346544.3_Silent_p.E1435E|FN1_ENST00000359671.1_Silent_p.E1435E|FN1_ENST00000446046.1_Silent_p.E1435E|FN1_ENST00000421182.1_Silent_p.E1435E|FN1_ENST00000357009.2_Silent_p.E1435E|FN1_ENST00000432072.2_Silent_p.E1526E|FN1_ENST00000323926.6_Silent_p.E1526E|FN1_ENST00000443816.1_Silent_p.E1435E|FN1_ENST00000336916.4_Silent_p.E1435E|FN1_ENST00000357867.4_Silent_p.E1435E|FN1_ENST00000345488.5_Silent_p.E1435E|FN1_ENST00000356005.4_Silent_p.E1435E			P02751	FINC_HUMAN	fibronectin 1	1525	Cell-attachment.|Fibronectin type-III 10.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGGACTTTCCTCTCTGCCAT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	78	81			NA	NA	2		NA											NA				216251446		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414	2335	2335		Fibronectin type III domain containing, Endogenous ligands	3778	protein-coding gene	gene with protein product	migration-stimulating factor, cold-insoluble globulin	135600			NA	2992939, 3003095	Standard	NM_212476	NM_054034	NA	Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000354785.4:c.4578G>A	2.37:g.216251446C>T		NA	O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	37	CCDS42814.1																																																																																			FN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256667.2		-	ENST00000354785.4	Silent	SNP	2 : 216251446 - 216251446 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	16
HPS3	84343	broad.mit.edu	37	3	148880586	148880586	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148880586A>G	ENST00000460120.1	+	12	1993	c.1907A>G	c.(1906-1908)aAa>aGa	p.K636R	HPS3_ENST00000296051.2_Missense_Mutation_p.K801R			Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	801						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CTCTTTTTCAAACTCACATCA	0.453		NA							Hermansky-Pudlak syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	135	136			NA	NA	3		NA											NA				148880586		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	HPS, HPS1-8	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755	84343	84343			15597	protein-coding gene	gene with protein product		606118			NA	11455388	Standard	NM_032383	NM_032383	NA	Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000460120.1:c.1907A>G	3.37:g.148880586A>G	ENSP00000418230:p.Lys636Arg	NA	A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	37		.	.	.	.	.	.	.	.	.	.	A	3.997	-0.003406	0.07773	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.63096	-0.02;-0.02	5.86	5.86	0.93980	.	0.100378	0.64402	D	0.000003	T	0.39911	0.1096	N	0.12746	0.255	0.80722	D	1	B;B	0.22276	0.013;0.067	B;B	0.18263	0.015;0.021	T	0.34453	-0.9828	10	0.10636	T	0.68	-26.16	10.8737	0.46899	0.9213:0.0:0.0787:0.0	.	636;801	G5E9V4;Q969F9	.;HPS3_HUMAN	R	801;636	ENSP00000296051:K801R;ENSP00000418230:K636R	ENSP00000296051:K801R	K	+	2	0	HPS3	150363276	1.000000	0.71417	0.999000	0.59377	0.066000	0.16364	4.735000	0.62051	2.242000	0.73789	0.460000	0.39030	AAA	HPS3-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000356153.1		+	ENST00000460120.1	Missense_Mutation	SNP	3 : 148880586 - 148880586 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	517	109
CGN	57530	broad.mit.edu	37	1	151493070	151493070	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151493070A>G	ENST00000271636.7	+	5	1177		c.e5-1			NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	NA						myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TATCTCTGGCAGATGGTTTCT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	78	80			NA	NA	1		NA											NA				151493070		2203	4300	6503	SO:0001630	splice_region_variant			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375	57530	57530			17429	protein-coding gene	gene with protein product		609473			NA	11042084, 12529927	Standard	NM_020770	NM_020770	NA	Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.1045-1A>G	1.37:g.151493070A>G		NA	A6H8L3|A7MD22|Q5T386|Q9NR25	37	CCDS999.1	.	.	.	.	.	.	.	.	.	.	A	13.13	2.146167	0.37923	.	.	ENSG00000143375	ENST00000271636	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.4399	0.16501	0.7356:0.1773:0.0871:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CGN	149759694	1.000000	0.71417	0.996000	0.52242	0.094000	0.18550	5.192000	0.65115	2.192000	0.70111	0.533000	0.62120	.	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034900.3	Intron	+	ENST00000271636.7	Splice_Site	SNP	1 : 151493070 - 151493070 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	184	46
COL17A1	1308	broad.mit.edu	37	10	105801279	105801279	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105801279C>T	ENST00000353479.5	-	37	2859	c.2569G>A	c.(2569-2571)Ggt>Agt	p.G857S	COL17A1_ENST00000369733.3_Missense_Mutation_p.G857S	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	857	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCTGGGGGACCTTGTAAATTA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	26	25			NA	NA	10		NA											NA				105801279		2201	4299	6500	SO:0001583	missense			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618	1308	1308		Collagens	2194	protein-coding gene	gene with protein product		113811		BPAG2	NA	7916703	Standard	NM_130778, NM_000494	NM_000494	NA	Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.2569G>A	10.37:g.105801279C>T	ENSP00000340937:p.Gly857Ser	NA	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	37	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188459	0.78789	.	.	ENSG00000065618	ENST00000353479;ENST00000369733	D;D	0.98105	-4.72;-4.72	4.66	4.66	0.58398	.	0.000000	0.47455	D	0.000224	D	0.98836	0.9607	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99013	1.0815	10	0.87932	D	0	-8.0688	13.4278	0.61037	0.0:1.0:0.0:0.0	.	857	Q9UMD9	COHA1_HUMAN	S	857	ENSP00000340937:G857S;ENSP00000358748:G857S	ENSP00000340937:G857S	G	-	1	0	COL17A1	105791269	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	4.833000	0.62766	2.638000	0.89438	0.491000	0.48974	GGT	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050181.1		-	ENST00000353479.5	Missense_Mutation	SNP	10 : 105801279 - 105801279 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	200	31
ESF1	51575	broad.mit.edu	37	20	13698151	13698151	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13698151G>T	ENST00000202816.1	-	13	2233	c.2126C>A	c.(2125-2127)gCt>gAt	p.A709D		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	709	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						CATAAGCAAAGCCATTTCAGC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	122	127			NA	NA	20		NA											NA				13698151		2203	4300	6503	SO:0001583	missense				CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048	51575	51575			15898	protein-coding gene	gene with protein product			chromosome 20 open reading frame 6	C20orf6	NA		Standard	NM_016649	NM_016649	NA	Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.2126C>A	20.37:g.13698151G>T	ENSP00000202816:p.Ala709Asp	NA	Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	37	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908977	0.52439	.	.	ENSG00000089048	ENST00000202816	T	0.24538	1.85	5.87	4.92	0.64577	.	0.394143	0.25971	N	0.027123	T	0.33933	0.0880	M	0.74258	2.255	0.44234	D	0.997073	P	0.46706	0.883	B	0.41571	0.36	T	0.27088	-1.0084	10	0.39692	T	0.17	1.9035	17.0563	0.86534	0.0:0.1273:0.8727:0.0	.	709	Q9H501	ESF1_HUMAN	D	709	ENSP00000202816:A709D	ENSP00000202816:A709D	A	-	2	0	ESF1	13646151	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.566000	0.67372	1.616000	0.50265	0.655000	0.94253	GCT	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078049.1		-	ENST00000202816.1	Missense_Mutation	SNP	20 : 13698151 - 13698151 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	420	23
TACC1	6867	broad.mit.edu	37	8	38677324	38677324	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38677324C>T	ENST00000317827.4	+	3	941	c.562C>T	c.(562-564)Cca>Tca	p.P188S	TACC1_ENST00000520340.1_Missense_Mutation_p.P152S|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000379931.3_Missense_Mutation_p.P188S|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000518415.1_Missense_Mutation_p.P143S|TACC1_ENST00000443286.2_Missense_Mutation_p.P204S	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	188	Interaction with TDRD7.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			TTCCAGCCCGCCAGACGCCCT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	61	60			NA	NA	8		NA											NA				38677324		2203	4300	6503	SO:0001583	missense			AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526	6867	6867			11522	protein-coding gene	gene with protein product		605301			NA		Standard	NM_006283	NM_006283	NA	Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.562C>T	8.37:g.38677324C>T	ENSP00000321703:p.Pro188Ser	NA	B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	37	CCDS6109.1	.	.	.	.	.	.	.	.	.	.	C	0.376	-0.931298	0.02359	.	.	ENSG00000147526	ENST00000443286;ENST00000518415;ENST00000522904;ENST00000317827;ENST00000379931	T;T;T;T;T	0.11604	2.95;2.91;2.76;3.0;3.01	4.76	1.72	0.24424	.	0.465646	0.19722	N	0.107580	T	0.04003	0.0112	N	0.11560	0.145	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.36407	-0.9749	10	0.23891	T	0.37	-1.0066	0.6547	0.00832	0.1877:0.3759:0.1825:0.2539	.	204;188;143	B4E302;O75410;O75410-7	.;TACC1_HUMAN;.	S	204;143;160;188;188	ENSP00000393647:P204S;ENSP00000428706:P143S;ENSP00000430355:P160S;ENSP00000321703:P188S;ENSP00000369263:P188S	ENSP00000321703:P188S	P	+	1	0	TACC1	38796481	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.160000	0.16462	0.599000	0.29845	-1.259000	0.01468	CCA	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376768.1		+	ENST00000317827.4	Missense_Mutation	SNP	8 : 38677324 - 38677324 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	527	107
EMR3	84658	broad.mit.edu	37	19	14743812	14743812	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14743812A>C	ENST00000253673.5	-	13	1664	c.1564T>G	c.(1564-1566)Ttg>Gtg	p.L522V	EMR3_ENST00000599900.1_Missense_Mutation_p.L307V|EMR3_ENST00000443157.2_Missense_Mutation_p.L396V|EMR3_ENST00000344373.4_Missense_Mutation_p.L470V	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	522					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AAGATAAACAATACTAAATTC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	91	93			NA	NA	19		NA											NA				14743812		2203	4300	6503	SO:0001583	missense			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355	84658	84658		-, GPCR / Class B : Orphans	23647	protein-coding gene	gene with protein product		606101			NA	11279179, 12975309	Standard	NM_032571	XM_005260118	NA	Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1564T>G	19.37:g.14743812A>C	ENSP00000253673:p.Leu522Val	NA		37	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	A	9.250	1.040406	0.19669	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.53857	0.6;0.6;0.6	4.08	1.96	0.26148	GPCR, family 2-like (1);	.	.	.	.	T	0.36524	0.0970	L	0.31845	0.965	0.09310	N	1	B;P;B	0.44946	0.382;0.846;0.372	B;B;B	0.40782	0.133;0.328;0.34	T	0.30679	-0.9970	9	0.66056	D	0.02	.	2.1925	0.03903	0.5755:0.0:0.2003:0.2242	.	396;470;522	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	V	396;522;470	ENSP00000396208:L396V;ENSP00000253673:L522V;ENSP00000340758:L470V	ENSP00000253673:L522V	L	-	1	2	EMR3	14604812	0.119000	0.22226	0.020000	0.16555	0.005000	0.04900	0.344000	0.19962	0.692000	0.31613	0.533000	0.62120	TTG	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466488.1		-	ENST00000253673.5	Missense_Mutation	SNP	19 : 14743812 - 14743812 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	198	36
CASP5	838	broad.mit.edu	37	11	104879584	104879584	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104879584G>T	ENST00000260315.3	-	2	130	c.131C>A	c.(130-132)tCt>tAt	p.S44Y	CASP5_ENST00000418434.1_Intron|CASP5_ENST00000526056.1_Missense_Mutation_p.S57Y|CASP5_ENST00000393139.2_Missense_Mutation_p.S11Y|CASP5_ENST00000393141.2_Missense_Mutation_p.S57Y|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000444749.2_Intron			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	44					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GGTCTGGATAGATGTTTGTCC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	135	140			NA	NA	11		NA											NA				104879584		2202	4299	6501	SO:0001583	missense				CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757	838	838		Caspases	1506	protein-coding gene	gene with protein product		602665	caspase 5, apoptosis-related cysteine protease		NA	7797592, 9250871	Standard	NM_004347	NM_004347	NA	Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.131C>A	11.37:g.104879584G>T	ENSP00000260315:p.Ser44Tyr	NA	B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	37	CCDS8328.2	.	.	.	.	.	.	.	.	.	.	.	4.140	0.024356	0.08054	.	.	ENSG00000137757	ENST00000393141;ENST00000393139;ENST00000260315;ENST00000526056;ENST00000456094	T;T;T;T;T	0.28454	4.56;1.61;4.59;4.56;2.72	1.15	-0.0252	0.13936	.	.	.	.	.	T	0.10035	0.0246	N	0.08118	0	0.09310	N	1	P;P	0.39782	0.561;0.688	B;B	0.23150	0.02;0.044	T	0.17992	-1.0351	9	0.87932	D	0	.	2.9172	0.05756	0.6522:0.0:0.3478:0.0	.	44;57	P51878;P51878-5	CASP5_HUMAN;.	Y	57;11;44;57;28	ENSP00000376849:S57Y;ENSP00000376847:S11Y;ENSP00000260315:S44Y;ENSP00000436877:S57Y;ENSP00000415241:S28Y	ENSP00000260315:S44Y	S	-	2	0	CASP5	104384794	0.001000	0.12720	0.001000	0.08648	0.000000	0.00434	0.836000	0.27545	-0.031000	0.13781	-0.312000	0.09012	TCT	CASP5-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109397.2		-	ENST00000260315.3	Missense_Mutation	SNP	11 : 104879584 - 104879584 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	360	59
SDC3	9672	broad.mit.edu	37	1	31349524	31349524	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31349524C>T	ENST00000336798.7	-	1	2063	c.571G>A	c.(571-573)Gtc>Atc	p.V191I	SDC3_ENST00000339394.6_Missense_Mutation_p.V249I			O75056	SDC3_HUMAN	syndecan 3	249	Ser/Thr-rich (mucin-like).					integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGTGCTGACCAGCCTGGGT	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	27	26			NA	NA	1		NA											NA				31349524		2201	4298	6499	SO:0001583	missense			AF248634	CCDS30661.1	1p35.2	2013-09-19	2007-02-15		ENSG00000162512	ENSG00000162512	9672	9672		Proteoglycans / Cell Surface : Syndecans	10660	protein-coding gene	gene with protein product	syndecan proteoglycan 3	186357	syndecan 3 (N-syndecan)		NA	1556152, 11527150	Standard	NM_014654	NM_014654	NA	Approved	N-syndecan, SYND3	uc001bse.2	O75056	OTTHUMG00000043646	ENST00000336798.7:c.571G>A	1.37:g.31349524C>T	ENSP00000338346:p.Val191Ile	NA	Q5T1Z6|Q5T1Z7|Q96CT3|Q96PR8	37		.	.	.	.	.	.	.	.	.	.	C	18.10	3.547782	0.65311	.	.	ENSG00000162512	ENST00000336798;ENST00000339394	T;T	0.26957	1.7;1.72	5.23	5.23	0.72850	.	0.104244	0.40818	N	0.001018	T	0.22627	0.0546	L	0.27053	0.805	0.34526	D	0.7087	P;B	0.34587	0.458;0.284	B;B	0.34824	0.19;0.175	T	0.24764	-1.0151	10	0.44086	T	0.13	-21.7528	18.7907	0.91973	0.0:1.0:0.0:0.0	.	249;191	O75056;D3DPN2	SDC3_HUMAN;.	I	191;249	ENSP00000338346:V191I;ENSP00000344468:V249I	ENSP00000338346:V191I	V	-	1	0	SDC3	31122111	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	3.012000	0.49575	2.434000	0.82447	0.462000	0.41574	GTC	SDC3-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000102016.1		-	ENST00000336798.7	Missense_Mutation	SNP	1 : 31349524 - 31349524 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	191	52
MAP2K7	5609	broad.mit.edu	37	19	7975916	7975916	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7975916G>A	ENST00000397981.3	+	7	829	c.727G>A	c.(727-729)Gac>Aac	p.D243N	MAP2K7_ENST00000397983.3_Missense_Mutation_p.D259N|MAP2K7_ENST00000397979.3_Missense_Mutation_p.D243N|MAP2K7_ENST00000545011.1_Missense_Mutation_p.D285N			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	243	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|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	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	CATCCACCGCGACGTCAAGCC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	44	42			NA	NA	19		NA											NA				7975916		2132	4248	6380	SO:0001583	missense			AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	5609	5609	2.7.12.2	Mitogen-activated protein kinase cascade / Kinase kinases	6847	protein-coding gene	gene with protein product		603014		PRKMK7	NA	9312068	Standard		XM_005272489	NA	Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397981.3:c.727G>A	19.37:g.7975916G>A	ENSP00000381068:p.Asp243Asn	NA	B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	37		.	.	.	.	.	.	.	.	.	.	G	35	5.583767	0.96578	.	.	ENSG00000076984	ENST00000397981;ENST00000397983;ENST00000545011;ENST00000425613;ENST00000397979	D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14	5.43	5.43	0.79202	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96907	0.8990	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97502	1.0061	10	0.87932	D	0	-9.0758	17.0918	0.86624	0.0:0.0:1.0:0.0	.	243;243	O14733-4;O14733	.;MP2K7_HUMAN	N	243;259;285;259;243	ENSP00000381068:D243N;ENSP00000381070:D259N;ENSP00000443946:D285N;ENSP00000381066:D243N	ENSP00000381066:D243N	D	+	1	0	MAP2K7	7881916	1.000000	0.71417	0.960000	0.40013	0.807000	0.45602	7.652000	0.83633	2.711000	0.92665	0.561000	0.74099	GAC	MAP2K7-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000267979.1		+	ENST00000397981.3	Missense_Mutation	SNP	19 : 7975916 - 7975916 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	321	56
ARHGEF15	22899	broad.mit.edu	37	17	8222373	8222373	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8222373G>T	ENST00000361926.3	+	13	2192	c.2082G>T	c.(2080-2082)caG>caT	p.Q694H	ARHGEF15_ENST00000582060.1_Splice_Site|ARHGEF15_ENST00000421050.1_Missense_Mutation_p.Q694H	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	694					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CCCTGGTCCAGGCCCAGCAGG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	80	79			NA	NA	17		NA											NA				8222373		2203	4300	6503	SO:0001583	missense			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844	22899	22899		Rho guanine nucleotide exchange factors	15590	protein-coding gene	gene with protein product	Rho guanine exchange factor (GEF) 15	608504			NA	10048485	Standard	NM_173728	NM_173728	NA	Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.2082G>T	17.37:g.8222373G>T	ENSP00000355026:p.Gln694His	NA	A8K6G1|Q8N449|Q9H8B4	37	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	g	14.08	2.427328	0.43122	.	.	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	D;D	0.88046	-2.33;-2.33	4.89	1.55	0.23275	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.87265	0.6134	L	0.41573	1.285	0.33947	D	0.643989	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.86348	0.1709	10	0.72032	D	0.01	-21.3641	3.8717	0.09039	0.2262:0.2035:0.5703:0.0	.	694;694	D3DTR7;O94989	.;ARHGF_HUMAN	H	694;484;694	ENSP00000355026:Q694H;ENSP00000412505:Q694H	ENSP00000355026:Q694H	Q	+	3	2	ARHGEF15	8163098	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.643000	0.24750	0.627000	0.30340	0.561000	0.74099	CAG	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226993.2		+	ENST00000361926.3	Missense_Mutation	SNP	17 : 8222373 - 8222373 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	617	112
ZNF813	126017	broad.mit.edu	37	19	53994876	53994876	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53994876G>A	ENST00000396403.4	+	4	1518	c.1390G>A	c.(1390-1392)Gag>Aag	p.E464K	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	464					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TCATATTGGAGAGAAACGTTA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	69	68			NA	NA	19		NA											NA				53994876		2196	4294	6490	SO:0001583	missense			AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346	126017	126017		Zinc fingers, C2H2-type, -	33257	protein-coding gene	gene with protein product					NA		Standard	NM_001004301	NM_001004301	NA	Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.1390G>A	19.37:g.53994876G>A	ENSP00000379684:p.Glu464Lys	NA		37	CCDS46172.1	.	.	.	.	.	.	.	.	.	.	g	16.35	3.099648	0.56183	.	.	ENSG00000198346	ENST00000396403	T	0.24350	1.86	1.32	-9.08E-4	0.14036	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33876	0.0878	L	0.47716	1.5	0.80722	D	1	D	0.54772	0.968	P	0.61592	0.891	T	0.18967	-1.0320	9	0.72032	D	0.01	.	6.6592	0.23004	0.1881:0.0:0.8119:0.0	.	464	Q6ZN06	ZN813_HUMAN	K	464	ENSP00000379684:E464K	ENSP00000379684:E464K	E	+	1	0	ZNF813	58686688	0.987000	0.35691	0.201000	0.23476	0.035000	0.12851	3.279000	0.51670	0.461000	0.27071	0.197000	0.17608	GAG	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350638.1		+	ENST00000396403.4	Missense_Mutation	SNP	19 : 53994876 - 53994876 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	61
INA	9118	broad.mit.edu	37	10	105036934	105036934	+	Translation_Start_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105036934G>A	ENST00000369849.4	+	0	15					NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	NA					cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TGTAGCTCGCGTTGAAGCCGC	0.716		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	10		NA											NA				105036934		2071	4074	6145					S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798	9118	9118		Intermediate filaments type IV	6057	protein-coding gene	gene with protein product		605338		NEF5	NA	7769995	Standard	NM_032727	NM_032727	NA	Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.-35G>A	10.37:g.105036934G>A		NA	B1AQK0|Q9BRC5	37	CCDS7545.1																																																																																			INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050145.1		+	ENST00000369849.4	De_novo_Start_OutOfFrame	SNP	10 : 105036934 - 105036934 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	191	46
TRIO	7204	broad.mit.edu	37	5	14482807	14482807	+	Silent	SNP	C	C	T	rs139448086		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14482807C>T	ENST00000344204.4	+	46	6606	c.6582C>T	c.(6580-6582)atC>atT	p.I2194I	TRIO_ENST00000537187.1_Silent_p.I2194I	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2194	PH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TTGAGCAGATCGTCATATTCA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	124	119	121		6582	-5.3	0.9	5	dbSNP_134	121	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRIO	NM_007118.2		0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077		2194/3098	14482807	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382	7204	7204		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing	12303	protein-coding gene	gene with protein product		601893	triple functional domain (PTPRF interacting)		NA	8643598	Standard	NM_007118	NM_007118	NA	Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.6582C>T	5.37:g.14482807C>T		NA	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	37	CCDS3883.1																																																																																			TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253711.2		+	ENST00000344204.4	Silent	SNP	5 : 14482807 - 14482807 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	675	110
MYT1	4661	broad.mit.edu	37	20	62850260	62850260	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62850260G>A	ENST00000328439.1	+	12	2210				MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Missense_Mutation_p.A642T	NM_004535.2	NP_004526.1	Q01538	MYT1_HUMAN	myelin transcription factor 1	NA					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ATCCTCTTCTGCAGGCTTTGA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(59;481 1041 20555 21139 33705)							NA				0													87	86	86			NA	NA	20		NA											NA				62850260		2203	4299	6502	SO:0001627	intron_variant			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132	4661	4661		Zinc fingers, C2HC-type containing	7622	protein-coding gene	gene with protein product	neural zinc finger transcription factor 2	600379		PLPB1	NA	1280325, 9268380	Standard	NM_004535	NM_004535	NA	Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1847-4G>A	20.37:g.62850260G>A		NA	E1P5H0|O94922|Q9UPV2	37	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.908347	0.33721	.	.	ENSG00000196132	ENST00000536311	T	0.49432	0.78	5.49	0.994	0.19832	.	.	.	.	.	T	0.32466	0.0830	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.07654	-1.0761	8	0.48119	T	0.1	.	5.192	0.15214	0.5279:0.0:0.3304:0.1418	.	642	F5H7M8	.	T	642	ENSP00000442412:A642T	ENSP00000442412:A642T	A	+	1	0	MYT1	62320704	0.001000	0.12720	0.695000	0.30226	0.942000	0.58702	-0.054000	0.11826	0.008000	0.14787	0.655000	0.94253	GCA	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080297.1		+	ENST00000328439.1	Intron	SNP	20 : 62850260 - 62850260 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	540	136
COL12A1	1303	broad.mit.edu	37	6	75898987	75898987	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:75898987C>A	ENST00000322507.8	-	7	1078	c.769G>T	c.(769-771)Gtg>Ttg	p.V257L	COL12A1_ENST00000483888.2_Missense_Mutation_p.V257L|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.V257L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	257	VWFA 1.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGAATTTCCACTTCATCCTGG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	76	77			NA	NA	6		NA											NA				75898987		1843	4091	5934	SO:0001583	missense			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799	1303	1303		Proteoglycans / Extracellular Matrix : Collagen proteoglycans, Collagens, Fibronectin type III domain containing	2188	protein-coding gene	gene with protein product	collagen type XII proteoglycan	120320	collagen, type XII, alpha 1-like	COL12A1L	NA	9143499	Standard	NM_004370	XM_006715334	NA	Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.769G>T	6.37:g.75898987C>A	ENSP00000325146:p.Val257Leu	NA	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	37	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839537	0.91117	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.77750	-1.12;-1.12;-1.12	5.78	5.78	0.91487	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000007	D	0.85575	0.5728	M	0.62266	1.93	0.58432	D	0.999999	D	0.69078	0.997	D	0.80764	0.994	D	0.85774	0.1357	10	0.72032	D	0.01	.	20.0027	0.97425	0.0:1.0:0.0:0.0	.	257	Q99715	COCA1_HUMAN	L	257	ENSP00000325146:V257L;ENSP00000412864:V257L;ENSP00000421216:V257L	ENSP00000325146:V257L	V	-	1	0	COL12A1	75955707	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.733000	0.93635	0.655000	0.94253	GTG	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041249.3		-	ENST00000322507.8	Missense_Mutation	SNP	6 : 75898987 - 75898987 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	49
ENTPD6	955	broad.mit.edu	37	20	25203540	25203540	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25203540C>T	ENST00000360031.2	+	12	1291	c.1109C>T	c.(1108-1110)aCg>aTg	p.T370M	ENTPD6_ENST00000376652.4_Missense_Mutation_p.T371M|ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000433259.2_Missense_Mutation_p.T337M|ENTPD6_ENST00000354989.5_Missense_Mutation_p.T354M	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	371						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						GTGCACAGGACGGAGGAAGTG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													187	155	166			NA	NA	20		NA											NA				25203540		2203	4300	6503	SO:0001583	missense			AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586	NA	955			3368	protein-coding gene	gene with protein product		603160	interleukin 6 signal transducer-2	CD39L2, IL6ST2	NA	9676430	Standard		NM_001247	NA	Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000360031.2:c.1109C>T	20.37:g.25203540C>T	ENSP00000353131:p.Thr370Met	NA	Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.99|14.99	2.701382|2.701382	0.48307|0.48307	.|.	.|.	ENSG00000197586|ENSG00000197586	ENST00000433417;ENST00000447877|ENST00000354989;ENST00000360031;ENST00000525986;ENST00000376641;ENST00000376652;ENST00000433259	.|T;T;T;T	.|0.18338	.|2.61;2.61;2.61;2.22	5.67|5.67	1.65|1.65	0.23941|0.23941	.|.	.|0.362158	.|0.32357	.|N	.|0.006218	T|T	0.32615|0.32615	0.0835|0.0835	M|M	0.71036|0.71036	2.16|2.16	0.09310|0.09310	N|N	1|1	.|P;D;D;D;P;D;D;D	.|0.62365	.|0.889;0.991;0.985;0.991;0.889;0.973;0.991;0.991	.|B;P;P;P;P;P;P;P	.|0.60236	.|0.287;0.829;0.806;0.871;0.541;0.671;0.79;0.79	T|T	0.10042|0.10042	-1.0647|-1.0647	5|10	.|0.72032	.|D	.|0.01	-6.0596|-6.0596	9.8497|9.8497	0.41048|0.41048	0.0:0.7265:0.0:0.2735|0.0:0.7265:0.0:0.2735	.|.	.|119;353;371;337;354;370;370;371	.|B4DHS2;B4DDM7;B4DNK6;Q5QPI9;O75354-2;D3DW49;Q5QPJ2;O75354	.|.;.;.;.;.;.;.;ENTP6_HUMAN	W|M	292;230|354;370;291;267;371;337	.|ENSP00000347084:T354M;ENSP00000353131:T370M;ENSP00000365840:T371M;ENSP00000401895:T337M	.|ENSP00000347084:T354M	R|T	+|+	1|2	2|0	ENTPD6|ENTPD6	25151540|25151540	0.079000|0.079000	0.21365|0.21365	0.000000|0.000000	0.03702|0.03702	0.638000|0.638000	0.38207|0.38207	2.982000|2.982000	0.49337|0.49337	0.086000|0.086000	0.17137|0.17137	0.462000|0.462000	0.41574|0.41574	CGG|ACG	ENTPD6-005	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000078399.2		+	ENST00000360031.2	Missense_Mutation	SNP	20 : 25203540 - 25203540 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	827	145
DMBT1	1755	broad.mit.edu	37	10	124336170	124336170	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124336170G>A	ENST00000338354.3	+	7	645	c.539G>A	c.(538-540)aGc>aAc	p.S180N	DMBT1_ENST00000368955.3_Missense_Mutation_p.S180N|DMBT1_ENST00000359586.6_Missense_Mutation_p.S180N|DMBT1_ENST00000344338.3_Missense_Mutation_p.S180N|DMBT1_ENST00000330163.4_Missense_Mutation_p.S180N|DMBT1_ENST00000368956.2_Missense_Mutation_p.S180N|DMBT1_ENST00000368909.3_Missense_Mutation_p.S180N			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	180	SRCR 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TACCTGTGGAGCTGCCCCCAC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(182;93 2026 18125 22222 38972)							NA				0													130	128	128			NA	NA	10		NA											NA				124336170		2041	4193	6234	SO:0001583	missense				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908	1755	1755			2926	protein-coding gene	gene with protein product		601969			NA	9288095, 17548659	Standard	NM_004406	NM_004406	NA	Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.539G>A	10.37:g.124336170G>A	ENSP00000342210:p.Ser180Asn	NA	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	37		.	.	.	.	.	.	.	.	.	.	g	8.383	0.838009	0.16891	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	4.41	-2.83	0.05769	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.285370	0.05954	N	0.639375	T	0.38480	0.1042	N	0.11284	0.12	0.09310	N	0.999996	B;B;B;B;D;B	0.58970	0.069;0.001;0.067;0.002;0.984;0.169	B;B;B;B;D;B	0.63793	0.062;0.007;0.076;0.004;0.918;0.351	T	0.45352	-0.9267	10	0.16420	T	0.52	.	11.3067	0.49340	0.7997:0.0:0.2003:0.0	.	180;180;180;180;180;180	F8WEF7;Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;DMBT1_HUMAN	N	180	ENSP00000342210:S180N;ENSP00000343175:S180N;ENSP00000327747:S180N;ENSP00000357905:S180N;ENSP00000357951:S180N;ENSP00000357952:S180N;ENSP00000352593:S180N	ENSP00000331522:S180N	S	+	2	0	DMBT1	124326160	0.000000	0.05858	0.951000	0.38953	0.233000	0.25261	-0.058000	0.11750	-0.405000	0.07599	-0.794000	0.03295	AGC	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000050792.2		+	ENST00000338354.3	Missense_Mutation	SNP	10 : 124336170 - 124336170 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	556	49
NOX4	50507	broad.mit.edu	37	11	89133228	89133228	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89133228G>A	ENST00000535633.1	-	11	1269	c.959C>T	c.(958-960)cCc>cTc	p.P320L	NOX4_ENST00000375979.3_Intron|NOX4_ENST00000343727.5_Missense_Mutation_p.P320L|NOX4_ENST00000532825.1_Missense_Mutation_p.P320L|NOX4_ENST00000534731.1_Missense_Mutation_p.P344L|NOX4_ENST00000527956.1_Missense_Mutation_p.P320L|NOX4_ENST00000263317.4_Missense_Mutation_p.P344L|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000542487.1_Missense_Mutation_p.P320L|NOX4_ENST00000424319.1_Missense_Mutation_p.P320L|NOX4_ENST00000413594.2_Missense_Mutation_p.P365L|NOX4_ENST00000527626.1_Missense_Mutation_p.P178L|NOX4_ENST00000528341.1_Missense_Mutation_p.P319L	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	344	FAD-binding FR-type.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGATACACTGGGACAATGTAG	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	87	86			NA	NA	11		NA											NA				89133228		2201	4298	6499	SO:0001583	missense			AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991	50507	50507			7891	protein-coding gene	gene with protein product		605261			NA		Standard	NM_016931	NM_001143837	NA	Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000535633.1:c.959C>T	11.37:g.89133228G>A	ENSP00000440172:p.Pro320Leu	NA	A8K715|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	37	CCDS44696.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228728	0.79576	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594	T;T;T;T;T;T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33	4.77	4.77	0.60923	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.43809	0.1264	M	0.74647	2.275	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.994;0.997	D;D;D;D;D	0.97110	0.995;0.999;1.0;0.971;0.968	T	0.35798	-0.9774	9	.	.	.	-11.8467	18.1413	0.89641	0.0:0.0:1.0:0.0	.	320;178;319;344;344	E9PMY6;E9PR43;E9PPP2;Q9NPH5-6;Q9NPH5	.;.;.;.;NOX4_HUMAN	L	320;320;320;344;344;320;320;320;178;319;365	ENSP00000412446:P320L;ENSP00000440172:P320L;ENSP00000344747:P320L;ENSP00000436892:P344L;ENSP00000263317:P344L;ENSP00000434924:P320L;ENSP00000433797:P320L;ENSP00000439373:P320L;ENSP00000436093:P178L;ENSP00000436970:P319L;ENSP00000405705:P365L	.	P	-	2	0	NOX4	88772876	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.237000	0.89807	2.362000	0.80069	0.561000	0.74099	CCC	NOX4-203	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394051.1		-	ENST00000535633.1	Missense_Mutation	SNP	11 : 89133228 - 89133228 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	301	50
RICTOR	253260	broad.mit.edu	37	5	38947536	38947536	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38947536T>G	ENST00000357387.3	-	32	4174	c.4144A>C	c.(4144-4146)Aaa>Caa	p.K1382Q	RICTOR_ENST00000296782.5_Missense_Mutation_p.K1406Q	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1382					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CTTAAGGCTTTCATGAACCTA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	50	51			NA	NA	5		NA											NA				38947536		2203	4299	6502	SO:0001583	missense				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327	253260	253260			28611	protein-coding gene	gene with protein product	rapamycin-insensitive companion of mTOR, pianissimo	609022			NA	12477932	Standard	NM_152756	XM_005248278	NA	Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.4144A>C	5.37:g.38947536T>G	ENSP00000349959:p.Lys1382Gln	NA	B2RNX0|B7ZMF7|Q68DT5|Q86UB7|Q8N3A0|Q8NCM6	37	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	T	17.30	3.355906	0.61293	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.55052	0.82;0.54	5.68	4.49	0.54785	.	0.141787	0.64402	D	0.000006	T	0.53674	0.1811	L	0.56769	1.78	0.51012	D	0.9999	P;P	0.47762	0.835;0.9	P;P	0.44990	0.466;0.466	T	0.57917	-0.7728	10	0.87932	D	0	-13.4672	12.8199	0.57688	0.0:0.0:0.1365:0.8635	.	1382;1406	Q6R327;Q6R327-3	RICTR_HUMAN;.	Q	1382;1406	ENSP00000349959:K1382Q;ENSP00000296782:K1406Q	ENSP00000296782:K1406Q	K	-	1	0	RICTOR	38983293	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.814000	0.69208	0.940000	0.37473	0.528000	0.53228	AAA	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366985.1		-	ENST00000357387.3	Missense_Mutation	SNP	5 : 38947536 - 38947536 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	241	26
KCNV2	169522	broad.mit.edu	37	9	2717904	2717904	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2717904C>T	ENST00000382082.3	+	1	403	c.165C>T	c.(163-165)atC>atT	p.I55I		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	55						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		ACTACTACATCGAGGAAGACG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	118	127			NA	NA	9		NA											NA				2717904		2203	4300	6503	SO:0001819	synonymous_variant			AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263	169522	169522		Potassium channels, Voltage-gated ion channels / Potassium channels	19698	protein-coding gene	gene with protein product		607604			NA	12060745, 16382104	Standard	NM_133497	NM_133497	NA	Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.165C>T	9.37:g.2717904C>T		NA	Q5T6X0	37	CCDS6447.1																																																																																			KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051528.1		+	ENST00000382082.3	Silent	SNP	9 : 2717904 - 2717904 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	560	86
NUAK1	9891	broad.mit.edu	37	12	106460674	106460674	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:106460674C>T	ENST00000261402.2	-	7	3271	c.1892G>A	c.(1891-1893)cGg>cAg	p.R631Q		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	631							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GTCTGCCAGCCGGTTCCGGTA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	60	59			NA	NA	12		NA											NA				106460674		2203	4300	6503	SO:0001583	missense			AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590	9891	9891			14311	protein-coding gene	gene with protein product	AMP-activated protein kinase family member 5	608130			NA	12409306, 13679856	Standard	NM_014840	NM_014840	NA	Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1892G>A	12.37:g.106460674C>T	ENSP00000261402:p.Arg631Gln	NA	A7MD39|Q96KA8	37	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276098	0.80580	.	.	ENSG00000074590	ENST00000261402	T	0.72942	-0.7	5.74	5.74	0.90152	.	0.000000	0.53938	D	0.000043	T	0.68659	0.3025	L	0.56769	1.78	0.58432	D	0.999999	D	0.53312	0.959	B	0.38985	0.287	T	0.73279	-0.4033	10	0.52906	T	0.07	.	19.9003	0.96983	0.0:1.0:0.0:0.0	.	631	O60285	NUAK1_HUMAN	Q	631	ENSP00000261402:R631Q	ENSP00000261402:R631Q	R	-	2	0	NUAK1	104984804	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	3.967000	0.56802	2.706000	0.92434	0.563000	0.77884	CGG	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405767.2		-	ENST00000261402.2	Missense_Mutation	SNP	12 : 106460674 - 106460674 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	622	128
MTL5	9633	broad.mit.edu	37	11	68517909	68517909	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68517909C>T	ENST00000443940.2	-	2	306	c.220G>A	c.(220-222)Gac>Aac	p.D74N	MTL5_ENST00000544963.1_Missense_Mutation_p.D74N|MTL5_ENST00000255087.5_Missense_Mutation_p.D74N			Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	74					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CCCTTGCAGTCGGCGCCCAGC	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	12	13			NA	NA	11		NA											NA				68517909		2191	4273	6464	SO:0001583	missense			U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749	9633	9633			7446	protein-coding gene	gene with protein product	CXC domain containing 2	604374			NA	1091092	Standard	NM_004923	XR_428932	NA	Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000443940.2:c.220G>A	11.37:g.68517909C>T	ENSP00000403086:p.Asp74Asn	NA	A8K8J3|Q4G182|Q6P2E2|Q8NCC8	37		.	.	.	.	.	.	.	.	.	.	c	12.87	2.066480	0.36470	.	.	ENSG00000132749	ENST00000255087;ENST00000443940;ENST00000544963	T;T;T	0.52983	1.3;0.64;1.23	4.25	4.25	0.50352	.	0.143613	0.31566	N	0.007438	T	0.52224	0.1721	L	0.29908	0.895	0.09310	N	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.70227	0.968;0.968;0.685	T	0.39502	-0.9611	10	0.29301	T	0.29	-22.316	12.0095	0.53278	0.0:1.0:0.0:0.0	.	74;57;74	Q9Y4I5-3;Q6PHY4;Q9Y4I5	.;.;MTL5_HUMAN	N	74	ENSP00000255087:D74N;ENSP00000403086:D74N;ENSP00000440968:D74N	ENSP00000255087:D74N	D	-	1	0	MTL5	68274485	0.121000	0.22262	0.152000	0.22495	0.053000	0.15095	2.985000	0.49362	2.204000	0.70986	0.306000	0.20318	GAC	MTL5-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000396848.1		-	ENST00000443940.2	Missense_Mutation	SNP	11 : 68517909 - 68517909 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	62	13
TJP1	7082	broad.mit.edu	37	15	30003138	30003138	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30003138C>A	ENST00000400011.2	-	24	4282	c.4041G>T	c.(4039-4041)caG>caT	p.Q1347H	TJP1_ENST00000346128.6_Missense_Mutation_p.Q1423H|TJP1_ENST00000356107.6_Missense_Mutation_p.Q1423H|TJP1_ENST00000545208.2_Missense_Mutation_p.Q1343H			Q07157	ZO1_HUMAN	tight junction protein 1	1423			D -> A (in dbSNP:rs2291166).		cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GGGGAGTGGCCTGGATGGGTT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(77;681 1843 6309 6570)							NA				0													174	188	184			NA	NA	15		NA											NA				30003138		2061	4204	6265	SO:0001583	missense				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067	7082	7082			11827	protein-coding gene	gene with protein product	zona occludens 1, tight junction protein ZO-1	601009			NA	8825647	Standard	NM_003257	XM_005254616	NA	Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000400011.2:c.4041G>T	15.37:g.30003138C>A	ENSP00000382890:p.Gln1347His	NA	B4E3K1|Q2NKP3|Q4ZGJ6	37		.	.	.	.	.	.	.	.	.	.	C	13.97	2.395094	0.42512	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.42131	0.98;0.98	5.62	3.53	0.40419	.	0.201017	0.47093	D	0.000248	T	0.52549	0.1741	L	0.54323	1.7	0.21355	N	0.999712	D;D;P;D	0.65815	0.992;0.988;0.956;0.995	P;P;P;D	0.77004	0.838;0.847;0.564;0.989	T	0.38067	-0.9678	10	0.66056	D	0.02	.	5.0942	0.14725	0.2127:0.5753:0.0:0.212	.	1416;1343;1423;1347	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	H	1423;1347;1423;1343;1343	ENSP00000281537:Q1423H;ENSP00000382890:Q1347H	ENSP00000281537:Q1423H	Q	-	3	2	TJP1	27790430	1.000000	0.71417	0.631000	0.29282	0.413000	0.31143	1.573000	0.36472	1.379000	0.46325	-0.136000	0.14681	CAG	TJP1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000268241.2		-	ENST00000400011.2	Missense_Mutation	SNP	15 : 30003138 - 30003138 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1065	190
CD22	933	broad.mit.edu	37	19	35837493	35837493	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35837493G>T	ENST00000085219.5	+	14	2503	c.2437G>T	c.(2437-2439)Gat>Tat	p.D813Y	CD22_ENST00000544992.2_3'UTR|CD22_ENST00000419549.2_Missense_Mutation_p.D641Y|CD22_ENST00000270311.6_Missense_Mutation_p.D628Y|CD22_ENST00000536635.2_Missense_Mutation_p.D725Y|CD22_ENST00000341773.6_Missense_Mutation_p.D636Y|CD22_ENST00000594250.1_Missense_Mutation_p.D636Y	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	813					cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CGTCATTCCAGATTTTCCAGA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(42;1009 1133 23674 26041)							NA				0													52	40	44			NA	NA	19		NA											NA				35837493		2203	4300	6503	SO:0001583	missense			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124	933	933		CD molecules, Sialic acid binding Ig-like lectins, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	1643	protein-coding gene	gene with protein product	sialic acid binding Ig-like lectin 2	107266	CD22 antigen		NA	8496602, 1691828	Standard	NM_001771	NM_001185099	NA	Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.2437G>T	19.37:g.35837493G>T	ENSP00000085219:p.Asp813Tyr	NA	O95699|O95701|O95702|O95703|Q01665|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	37	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791871	0.50102	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000270311;ENST00000419549	T;T;T;T;T	0.58358	0.79;0.4;0.34;0.66;0.87	4.58	-5.01	0.02991	.	1.852020	0.02603	N	0.101271	T	0.54679	0.1873	L	0.29908	0.895	0.09310	N	1	D;P;D;D	0.71674	0.981;0.558;0.991;0.998	P;B;P;D	0.64776	0.592;0.12;0.687;0.929	T	0.56019	-0.8048	10	0.59425	D	0.04	.	6.3034	0.21125	0.5514:0.1399:0.3087:0.0	.	641;725;813;636	Q32M46;F5H7U3;P20273;P20273-2	.;.;CD22_HUMAN;.	Y	813;725;636;628;641	ENSP00000085219:D813Y;ENSP00000442279:D725Y;ENSP00000339349:D636Y;ENSP00000270311:D628Y;ENSP00000403822:D641Y	ENSP00000085219:D813Y	D	+	1	0	CD22	40529333	0.001000	0.12720	0.000000	0.03702	0.068000	0.16541	0.350000	0.20079	-0.575000	0.05982	-0.384000	0.06662	GAT	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466099.1		+	ENST00000085219.5	Missense_Mutation	SNP	19 : 35837493 - 35837493 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	68	12
ZNF606	80095	broad.mit.edu	37	19	58490209	58490209	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58490209T>C	ENST00000341164.4	-	7	2459	c.1839A>G	c.(1837-1839)aaA>aaG	p.K613K	ZNF606_ENST00000536132.1_Silent_p.K523K	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	613					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTATCTCATGTTTAGTGAGGG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	90	90			NA	NA	19		NA											NA				58490209		2203	4300	6503	SO:0001819	synonymous_variant			AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704	80095	80095		Zinc fingers, C2H2-type, -	25879	protein-coding gene	gene with protein product		613905		ZNF328	NA	11347906	Standard	NM_025027	XM_005259276	NA	Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1839A>G	19.37:g.58490209T>C		NA	A8KAN2|Q8NE04|Q96JH5	37	CCDS12968.1																																																																																			ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405961.1		-	ENST00000341164.4	Silent	SNP	19 : 58490209 - 58490209 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	566	105
C11orf84	144097	broad.mit.edu	37	11	63586402	63586402	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63586402G>A	ENST00000294244.4	+	5	1161	c.862G>A	c.(862-864)Gac>Aac	p.D288N		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	288										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						CAGGGGCCCAGACAGCAAGGA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	56	56			NA	NA	11		NA											NA				63586402		2201	4298	6499	SO:0001583	missense			BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005	144097	144097			25115	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_138471	NM_138471	NA	Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.862G>A	11.37:g.63586402G>A	ENSP00000294244:p.Asp288Asn	NA	Q68CV7|Q6PHS2|Q96IH0	37	CCDS31594.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.172089	0.57584	.	.	ENSG00000168005	ENST00000294244;ENST00000540893	T	0.50277	0.75	4.99	2.06	0.26882	.	1.012140	0.07893	N	0.971511	T	0.33411	0.0862	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.31166	-0.9953	10	0.87932	D	0	-8.6044	6.4486	0.21890	0.3034:0.0:0.6966:0.0	.	288	Q9BUA3	CK084_HUMAN	N	288;63	ENSP00000294244:D288N	ENSP00000294244:D288N	D	+	1	0	C11orf84	63342978	0.439000	0.25610	0.007000	0.13788	0.923000	0.55619	0.965000	0.29319	0.615000	0.30124	0.561000	0.74099	GAC	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396084.1		+	ENST00000294244.4	Missense_Mutation	SNP	11 : 63586402 - 63586402 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	475	106
MOSPD3	64598	broad.mit.edu	37	7	100210480	100210480	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100210480G>A	ENST00000393950.2	+	1	348	c.66G>A	c.(64-66)cgG>cgA	p.R22R	MOSPD3_ENST00000424091.2_Silent_p.R22R|MOSPD3_ENST00000379527.2_Silent_p.R22R|MOSPD3_ENST00000223054.4_Silent_p.R22R	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	22						integral to membrane	structural molecule activity	p.R22R(1)		breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					gggggtcccggggcgccccTC	0.731		NA												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)											14	17	16			NA	NA	7		NA											NA				100210480		2114	4183	6297	SO:0001819	synonymous_variant			BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330	64598	64598			25078	protein-coding gene	gene with protein product		609125			NA	15533722	Standard	NM_023948	XM_005250531	NA	Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.66G>A	7.37:g.100210480G>A		NA	A4D2D1|A6NG17|D6W5W1|O75423|O75424	37	CCDS5701.1																																																																																			MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356395.1		+	ENST00000393950.2	Silent	SNP	7 : 100210480 - 100210480 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	71
NOSIP	51070	broad.mit.edu	37	19	50060162	50060162	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50060162G>A	ENST00000596358.1	-	6	565	c.507C>T	c.(505-507)ccC>ccT	p.P169P	NOSIP_ENST00000339093.3_Silent_p.P172P|NOSIP_ENST00000391853.3_Silent_p.P169P	NM_001270960.1	NP_001257889.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	169					negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		CCTTGGCTTCGGGCGTCAGCG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	31	30			NA	NA	19		NA											NA				50060162		2203	4299	6502	SO:0001819	synonymous_variant			AF132959	CCDS12772.1	19q13.3	2008-02-05				ENSG00000142546	NA	51070			17946	protein-coding gene	gene with protein product					NA	11149895, 10810093	Standard		NM_015953	NA	Approved	CGI-25	uc002pol.4	Q9Y314		ENST00000596358.1:c.507C>T	19.37:g.50060162G>A		NA	Q96FD2	37	CCDS12772.1																																																																																			NOSIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465423.1		-	ENST00000596358.1	Silent	SNP	19 : 50060162 - 50060162 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	148	24
RUSC2	9853	broad.mit.edu	37	9	35548113	35548113	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35548113C>T	ENST00000455600.1	+	2	2164	c.1595C>T	c.(1594-1596)gCc>gTc	p.A532V		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	532						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GCAGCCATGGCCGGGCCTGGC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	24	23			NA	NA	9		NA											NA				35548113		2200	4294	6494	SO:0001583	missense			AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853	9853	9853			23625	protein-coding gene	gene with protein product		611053			NA	9205841	Standard	XM_048462	NM_001135999	NA	Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.1595C>T	9.37:g.35548113C>T	ENSP00000393922:p.Ala532Val	NA	A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	37	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369892	0.42003	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.30981	1.51;1.51	5.67	4.78	0.61160	.	0.353263	0.30244	N	0.010071	T	0.23330	0.0564	L	0.32530	0.975	0.27433	N	0.953941	B	0.16166	0.016	B	0.15870	0.014	T	0.12293	-1.0553	10	0.18710	T	0.47	-0.8445	13.4712	0.61283	0.0:0.9253:0.0:0.0747	.	532	Q8N2Y8	RUSC2_HUMAN	V	532	ENSP00000355177:A532V;ENSP00000393922:A532V	ENSP00000355177:A532V	A	+	2	0	RUSC2	35538113	0.972000	0.33761	0.971000	0.41717	0.814000	0.46013	2.759000	0.47573	1.403000	0.46800	0.655000	0.94253	GCC	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052309.1		+	ENST00000455600.1	Missense_Mutation	SNP	9 : 35548113 - 35548113 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	51
ANKRD50	57182	broad.mit.edu	37	4	125599995	125599995	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:125599995G>T	ENST00000504087.1	-	3	1615	c.578C>A	c.(577-579)tCt>tAt	p.S193Y	ANKRD50_ENST00000515641.1_Missense_Mutation_p.S14Y	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	193										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TTCATCAACAGAATCAACAAG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	170	170			NA	NA	4		NA											NA				125599995		2203	4300	6503	SO:0001583	missense			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458	57182	57182		Ankyrin repeat domain containing	29223	protein-coding gene	gene with protein product					NA		Standard	NM_020337	NM_020337	NA	Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.578C>A	4.37:g.125599995G>T	ENSP00000425658:p.Ser193Tyr	NA	A8K4V3|Q6N064|Q6ZSE6	37	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736369	0.69189	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.71934	1.83;-0.61	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.82999	0.5159	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.83473	0.0060	10	0.87932	D	0	.	20.0694	0.97716	0.0:0.0:1.0:0.0	.	193	Q9ULJ7	ANR50_HUMAN	Y	193;14	ENSP00000425658:S193Y;ENSP00000425355:S14Y	ENSP00000425658:S193Y	S	-	2	0	ANKRD50	125819445	1.000000	0.71417	0.882000	0.34594	0.152000	0.21847	8.836000	0.92105	2.761000	0.94854	0.585000	0.79938	TCT	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364775.1		-	ENST00000504087.1	Missense_Mutation	SNP	4 : 125599995 - 125599995 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	892	177
ZNF544	27300	broad.mit.edu	37	19	58773509	58773509	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58773509A>G	ENST00000600220.1	+	5	1687	c.1453A>G	c.(1453-1455)Aca>Gca	p.T485A	ZNF544_ENST00000600044.1_Missense_Mutation_p.T485A|ZNF544_ENST00000596929.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596652.1_Missense_Mutation_p.T513A|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000269829.4_Missense_Mutation_p.T513A|ZNF544_ENST00000415203.2_Missense_Mutation_p.T485A|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000599953.1_Missense_Mutation_p.T371A			Q6NX49	ZN544_HUMAN	zinc finger protein 544	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		ACATCAGAGGACACACACTGG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	81	80			NA	NA	19		NA											NA				58773509		2203	4300	6503	SO:0001583	missense			AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131	27300	27300		Zinc fingers, C2H2-type, -	16759	protein-coding gene	gene with protein product	zinc finger protein AF020591				NA		Standard	NM_014480	NM_014480	NA	Approved	AF020591	uc010euo.3	Q6NX49		ENST00000600220.1:c.1453A>G	19.37:g.58773509A>G	ENSP00000471684:p.Thr485Ala	NA	A8K6J1|Q9UEX4	37		.	.	.	.	.	.	.	.	.	.	A	9.323	1.058531	0.19987	.	.	ENSG00000198131	ENST00000269829;ENST00000415203	T;T	0.11930	2.73;2.73	2.8	1.74	0.24563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11067	0.0270	L	0.42744	1.35	0.09310	N	1	B;B;B	0.25772	0.077;0.134;0.033	B;B;B	0.25140	0.03;0.058;0.015	T	0.32428	-0.9907	9	0.72032	D	0.01	.	3.3834	0.07262	0.6747:0.0:0.1213:0.2041	.	485;485;513	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	A	513;485	ENSP00000269829:T513A;ENSP00000394341:T485A	ENSP00000269829:T513A	T	+	1	0	ZNF544	63465321	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.558000	0.23469	0.295000	0.22570	0.421000	0.28195	ACA	ZNF544-006	NOVEL	alternative_5_UTR|basic	protein_coding	NA	protein_coding	OTTHUMT00000466756.1		+	ENST00000600220.1	Missense_Mutation	SNP	19 : 58773509 - 58773509 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	432	87
SYVN1	84447	broad.mit.edu	37	11	64896065	64896065	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64896065G>T	ENST00000526060.1	-	15	1906	c.1714C>A	c.(1714-1716)Cca>Aca	p.P572T	SYVN1_ENST00000307289.6_Missense_Mutation_p.P521T|SYVN1_ENST00000377190.3_Missense_Mutation_p.P573T|SYVN1_ENST00000294256.8_Missense_Mutation_p.P572T			Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	573					ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GGGGCTGGTGGGGAGGCTCCT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	51	48			NA	NA	11		NA											NA				64896065		2201	4297	6498	SO:0001583	missense			AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298	84447	84447		RING-type (C3HC4) zinc fingers	20738	protein-coding gene	gene with protein product	HMG-coA reductase degradation 1 homolog (S. cerevisiae)	608046			NA	12975321	Standard	NM_032431	NM_032431	NA	Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000526060.1:c.1714C>A	11.37:g.64896065G>T	ENSP00000436984:p.Pro572Thr	NA	Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	37	CCDS8097.1	.	.	.	.	.	.	.	.	.	.	g	3.476	-0.106889	0.06924	.	.	ENSG00000162298	ENST00000377190;ENST00000294256;ENST00000307289;ENST00000526060	T;T;T;T	0.08896	3.04;3.05;3.22;3.05	4.73	0.831	0.18860	.	0.817568	0.11036	N	0.606679	T	0.05090	0.0136	N	0.19112	0.55	0.31228	N	0.696704	B;B;B	0.15930	0.015;0.015;0.009	B;B;B	0.24974	0.057;0.057;0.026	T	0.46247	-0.9205	10	0.11182	T	0.66	-0.2177	6.6834	0.23132	0.3835:0.0:0.6165:0.0	.	521;572;573	Q86TM6-2;Q86TM6-3;Q86TM6	.;.;SYVN1_HUMAN	T	573;572;521;572	ENSP00000366395:P573T;ENSP00000294256:P572T;ENSP00000302035:P521T;ENSP00000436984:P572T	ENSP00000294256:P572T	P	-	1	0	SYVN1	64652641	0.947000	0.32204	0.995000	0.50966	0.684000	0.39900	0.189000	0.17037	0.000000	0.14550	0.550000	0.68814	CCA	SYVN1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385278.1		-	ENST00000526060.1	Missense_Mutation	SNP	11 : 64896065 - 64896065 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	490	21
DNAH9	1770	broad.mit.edu	37	17	11645572	11645572	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11645572C>T	ENST00000454412.2	+	30	6053	c.6053C>T	c.(6052-6054)tCa>tTa	p.S2018L	DNAH9_ENST00000262442.4_Missense_Mutation_p.S2018L			Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2018	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAAGCCCAGTCATTAGCCAGA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													192	168	176			NA	NA	17		NA											NA				11645572		2203	4300	6503	SO:0001583	missense			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174	1770	1770		Axonemal dyneins	2953	protein-coding gene	gene with protein product		603330	dynein, axonemal, heavy polypeptide 17-like, dynein, axonemal, heavy polypeptide 9	DNAH17L	NA	8812413, 11247663	Standard	NM_001372	NM_001372	NA	Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000454412.2:c.6053C>T	17.37:g.11645572C>T	ENSP00000414874:p.Ser2018Leu	NA	O15064|O95494|Q9NQ28	37		.	.	.	.	.	.	.	.	.	.	C	1.172	-0.640598	0.03557	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.33654	1.4;1.4	5.61	-1.09	0.09904	.	1.252010	0.05540	N	0.565486	T	0.19604	0.0471	N	0.16166	0.38	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24225	-1.0166	10	0.02654	T	1	.	11.5605	0.50774	0.0:0.5102:0.0:0.4898	.	2018	Q9NYC9	DYH9_HUMAN	L	2018;2018;600	ENSP00000262442:S2018L;ENSP00000414874:S2018L	ENSP00000262442:S2018L	S	+	2	0	DNAH9	11586297	0.000000	0.05858	0.001000	0.08648	0.857000	0.48899	0.755000	0.26405	-0.064000	0.13043	-0.322000	0.08575	TCA	DNAH9-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000252758.4		+	ENST00000454412.2	Missense_Mutation	SNP	17 : 11645572 - 11645572 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	518	92
NFATC1	4772	broad.mit.edu	37	18	77193710	77193710	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77193710C>T	ENST00000587635.1	+	3	1452	c.1358C>T	c.(1357-1359)gCg>gTg	p.A453V	NFATC1_ENST00000591814.1_Missense_Mutation_p.A453V|NFATC1_ENST00000427363.2_Missense_Mutation_p.A453V|NFATC1_ENST00000592223.1_Missense_Mutation_p.A440V|NFATC1_ENST00000397790.2_5'UTR|NFATC1_ENST00000329101.4_Missense_Mutation_p.A440V|NFATC1_ENST00000545796.1_5'UTR|NFATC1_ENST00000542384.1_Missense_Mutation_p.A453V|NFATC1_ENST00000253506.5_Missense_Mutation_p.A453V|NFATC1_ENST00000586434.1_Missense_Mutation_p.A440V|NFATC1_ENST00000318065.5_Missense_Mutation_p.A440V			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	453	RHD.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GCCGTGAAGGCGTCGGCCGGA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(151;1210 2593 28719 45011)							NA				0													53	55	54			NA	NA	18		NA											NA				77193710		2203	4299	6502	SO:0001583	missense			U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196	4772	4772		Nuclear factor of activated T-cells	7775	protein-coding gene	gene with protein product		600489			NA	8202141	Standard	NM_172390	NM_001278669	NA	Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000587635.1:c.1358C>T	18.37:g.77193710C>T	ENSP00000468111:p.Ala453Val	NA	Q12865|Q15793	37		.	.	.	.	.	.	.	.	.	.	C	28.5	4.925889	0.92319	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T;T	0.46063	0.88;0.88;0.88;0.91	4.49	4.49	0.54785	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.63212	0.2492	M	0.78223	2.4	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999;0.999	P;P;P;P;P;P;P	0.61003	0.647;0.647;0.73;0.802;0.802;0.882;0.73	T	0.70916	-0.4742	10	0.87932	D	0	-12.6612	17.1628	0.86808	0.0:1.0:0.0:0.0	.	440;440;453;453;453;440;453	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	V	453;453;453;440;440;417	ENSP00000253506:A453V;ENSP00000442435:A453V;ENSP00000327850:A440V;ENSP00000389377:A440V	ENSP00000253506:A453V	A	+	2	0	NFATC1	75294698	1.000000	0.71417	0.920000	0.36463	0.681000	0.39784	7.334000	0.79224	2.024000	0.59613	0.561000	0.74099	GCG	NFATC1-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000450505.1		+	ENST00000587635.1	Missense_Mutation	SNP	18 : 77193710 - 77193710 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	687	166
DNAH1	25981	broad.mit.edu	37	3	52357834	52357834	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52357834G>A	ENST00000420323.2	+	3	605	c.344G>A	c.(343-345)cGt>cAt	p.R115H		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	115	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAGGTATGTCGTGGCCCCCGA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	48	47			NA	NA	3		NA											NA				52357834		1934	4133	6067	SO:0001583	missense			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841	25981	25981		Axonemal dyneins	2940	protein-coding gene	gene with protein product		603332	dynein, axonemal, heavy polypeptide 1		NA	8812413, 9256245	Standard	NM_015512	NM_015512	NA	Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.344G>A	3.37:g.52357834G>A	ENSP00000401514:p.Arg115His	NA	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	8.745	0.919947	0.17982	.	.	ENSG00000114841	ENST00000420323	T	0.24151	1.87	5.07	1.11	0.20524	.	1.333110	0.05233	N	0.510691	T	0.14399	0.0348	N	0.12182	0.205	0.09310	N	0.999999	B;B	0.15141	0.012;0.01	B;B	0.08055	0.002;0.003	T	0.26950	-1.0088	10	0.35671	T	0.21	.	5.2573	0.15553	0.2825:0.2603:0.4572:0.0	.	115;115	C9JXH6;Q9P2D7-3	.;.	H	115	ENSP00000401514:R115H	ENSP00000401514:R115H	R	+	2	0	DNAH1	52332874	0.067000	0.21026	0.299000	0.25016	0.005000	0.04900	1.169000	0.31871	0.336000	0.23639	-0.150000	0.13652	CGT	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350816.1		+	ENST00000420323.2	Missense_Mutation	SNP	3 : 52357834 - 52357834 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	47	13
OBSCN	84033	broad.mit.edu	37	1	228559352	228559352	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228559352C>A	ENST00000570156.2	+	105	23818	c.23744C>A	c.(23743-23745)cCt>cAt	p.P7915H	OBSCN_ENST00000366707.4_Missense_Mutation_p.P4592H|OBSCN_ENST00000422127.1_Missense_Mutation_p.P6958H	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6958	Protein kinase 2.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CACTTGGCCCCTGGCCACAGC	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													9	14	12			NA	NA	1		NA											NA				228559352		1930	3987	5917	SO:0001583	missense			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358	84033	84033		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	15719	protein-coding gene	gene with protein product		608616			NA	11448995, 11814696	Standard	NM_052843	NM_001098623	NA	Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000570156.2:c.23744C>A	1.37:g.228559352C>A	ENSP00000455507:p.Pro7915His	NA	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	37	CCDS59204.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577488	0.45902	.	.	ENSG00000154358	ENST00000422127;ENST00000366707	T;T	0.63096	-0.02;0.03	3.97	3.03	0.35002	.	.	.	.	.	T	0.49881	0.1583	L	0.27053	0.805	0.23221	N	0.998097	B	0.17465	0.022	B	0.14023	0.01	T	0.47459	-0.9116	9	0.62326	D	0.03	.	12.4621	0.55736	0.0:0.8299:0.1701:0.0	.	6958	Q5VST9	OBSCN_HUMAN	H	6958;4592	ENSP00000409493:P6958H;ENSP00000355668:P4592H	ENSP00000355668:P4592H	P	+	2	0	OBSCN	226625975	0.019000	0.18553	0.003000	0.11579	0.096000	0.18686	1.722000	0.38042	0.854000	0.35336	0.484000	0.47621	CCT	OBSCN-011	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421354.3		+	ENST00000570156.2	Missense_Mutation	SNP	1 : 228559352 - 228559352 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	178	25
ZIK1	284307	broad.mit.edu	37	19	58101631	58101631	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58101631G>A	ENST00000597850.1	+	4	667	c.452G>A	c.(451-453)aGa>aAa	p.R151K	ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Missense_Mutation_p.R138K|ZIK1_ENST00000599456.1_Missense_Mutation_p.R96K	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GACATGGACAGAGCCTCATAT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	83	88			NA	NA	19		NA											NA				58101631		2203	4300	6503	SO:0001583	missense			AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649	284307	284307		Zinc fingers, C2H2-type, -	33104	protein-coding gene	gene with protein product			zinc finger protein interacting with K protein 1 homolog (mouse)		NA		Standard	NM_001010879	XM_005258769	NA	Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.452G>A	19.37:g.58101631G>A	ENSP00000472867:p.Arg151Lys	NA	O43339|Q3SY51|Q3SY53	37	CCDS33135.1	.	.	.	.	.	.	.	.	.	.	G	6.463	0.453628	0.12283	.	.	ENSG00000171649	ENST00000536878;ENST00000356724;ENST00000307468	T	0.05081	3.5	2.84	-3.46	0.04767	.	.	.	.	.	T	0.03651	0.0104	L	0.28649	0.875	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.001	T	0.48581	-0.9023	9	0.06891	T	0.86	.	7.6484	0.28334	0.6221:0.0:0.3779:0.0	.	138;151	F5H435;Q3SY52	.;ZIK1_HUMAN	K	138;132;151	ENSP00000438487:R138K	ENSP00000303820:R151K	R	+	2	0	ZIK1	62793443	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.568000	0.05909	-0.689000	0.05149	-0.391000	0.06502	AGA	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466791.1		+	ENST00000597850.1	Missense_Mutation	SNP	19 : 58101631 - 58101631 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	64
PKD1	5310	broad.mit.edu	37	16	2143020	2143020	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2143020G>A	ENST00000262304.4	-	38	11299	c.11091C>T	c.(11089-11091)caC>caT	p.H3697H	PKD1_ENST00000423118.1_Silent_p.H3696H|RP11-304L19.1_ENST00000570072.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3697					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GACGGTAGGCGTGCCCATGGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	107	107			NA	NA	16		NA											NA				2143020		2198	4299	6497	SO:0001819	synonymous_variant			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710	5310	5310		Voltage-gated ion channels / Transient receptor potential cation channels	9008	protein-coding gene	gene with protein product	polycystin 1, transient receptor potential cation channel, subfamily P, member 1	601313			NA		Standard		NM_001009944	NA	Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.11091C>T	16.37:g.2143020G>A		NA	Q15140|Q15141	37	CCDS32369.1																																																																																			PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341688.1		-	ENST00000262304.4	Silent	SNP	16 : 2143020 - 2143020 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	845	33
OR6K2	81448	broad.mit.edu	37	1	158669909	158669909	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158669909A>G	ENST00000359610.2	-	1	577	c.534T>C	c.(532-534)tgT>tgC	p.C178C		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GGAGGAAGTCACAGAAGATAT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	111	117			NA	NA	1		NA											NA				158669909		2203	4300	6503	SO:0001819	synonymous_variant			BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171	81448	81448		GPCR / Class A : Olfactory receptors	15029	protein-coding gene	gene with protein product					NA		Standard	NM_001005279	NM_001005279	NA	Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.534T>C	1.37:g.158669909A>G		NA	B9EH33|Q6IFR6	37	CCDS30902.1																																																																																			OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059061.1		-	ENST00000359610.2	Silent	SNP	1 : 158669909 - 158669909 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	483	128
SAYSD1	55776	broad.mit.edu	37	6	39073241	39073241	+	Silent	SNP	G	G	A	rs141609699		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39073241G>A	ENST00000229903.4	-	2	618	c.519C>T	c.(517-519)cgC>cgT	p.R173R	SAYSD1_ENST00000373249.1_Silent_p.R106R	NM_018322.1	NP_060792.1	Q9NPB0	CF064_HUMAN	SAYSVFN motif domain containing 1	173						integral to membrane					NA						ACTGTAACTCGCGCTCCAACT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		3,4403	6.2+/-15.9	0,3,2200	105	108	107		519	0.9	1	6	dbSNP_134	107	0,8600		0,0,4300	no	coding-synonymous	C6orf64	NM_018322.1		0,3,6500	AA,AG,GG	NA	0.0,0.0681,0.0231		173/184	39073241	3,13003	2203	4300	6503	SO:0001819	synonymous_variant			BC022007	CCDS4840.1	6p21.1	2011-12-13	2011-12-13	2011-12-13	ENSG00000112167	ENSG00000112167	55776	55776			21025	protein-coding gene	gene with protein product			chromosome 6 open reading frame 64	C6orf64	NA		Standard	NM_018322	XM_005249222	NA	Approved	FLJ11101	uc003ook.1	Q9NPB0	OTTHUMG00000014641	ENST00000229903.4:c.519C>T	6.37:g.39073241G>A		NA	Q9H0D8	37	CCDS4840.1																																																																																			SAYSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040448.1		-	ENST00000229903.4	Silent	SNP	6 : 39073241 - 39073241 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	690	118
SESN2	83667	broad.mit.edu	37	1	28607282	28607282	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28607282C>T	ENST00000253063.3	+	10	1733	c.1412C>T	c.(1411-1413)gCc>gTc	p.A471V		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	471					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCTGTACGCCCTCCGTGCC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	98	103			NA	NA	1		NA											NA				28607282		2203	4300	6503	SO:0001583	missense			AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766	83667	83667			20746	protein-coding gene	gene with protein product		607767			NA	12607115, 12203114	Standard		NM_031459	NA	Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.1412C>T	1.37:g.28607282C>T	ENSP00000253063:p.Ala471Val	NA	Q5T7D0|Q96SI5	37	CCDS321.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787552	0.90367	.	.	ENSG00000130766	ENST00000253063	T	0.25414	1.8	4.74	4.74	0.60224	.	0.472269	0.23563	N	0.046836	T	0.43500	0.1250	M	0.73430	2.235	0.52501	D	0.999954	P	0.52170	0.951	P	0.55011	0.766	T	0.41215	-0.9521	10	0.66056	D	0.02	-11.054	12.5017	0.55960	0.0:0.8311:0.1689:0.0	.	471	P58004	SESN2_HUMAN	V	471	ENSP00000253063:A471V	ENSP00000253063:A471V	A	+	2	0	SESN2	28479869	0.997000	0.39634	1.000000	0.80357	0.926000	0.56050	3.541000	0.53618	2.461000	0.83175	0.555000	0.69702	GCC	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000009840.1		+	ENST00000253063.3	Missense_Mutation	SNP	1 : 28607282 - 28607282 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	513	44
C10orf76	79591	broad.mit.edu	37	10	103766356	103766356	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103766356A>G	ENST00000370033.4	-	14	1108	c.989T>C	c.(988-990)gTc>gCc	p.V330A		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	330						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		AGCAGGACTGACAGGGGTCGT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	136	133			NA	NA	10		NA											NA				103766356		1967	4164	6131	SO:0001583	missense			AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029	79591	79591			25788	protein-coding gene	gene with protein product					NA	14702039	Standard	NM_024541	NM_024541	NA	Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.989T>C	10.37:g.103766356A>G	ENSP00000359050:p.Val330Ala	NA	Q2TB87|Q9H8Z9	37	CCDS41563.1	.	.	.	.	.	.	.	.	.	.	A	4.934	0.173538	0.09391	.	.	ENSG00000120029	ENST00000370033	.	.	.	5.92	3.4	0.38934	.	0.576877	0.19762	N	0.106659	T	0.13756	0.0333	N	0.01352	-0.895	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08066	-1.0740	9	0.08381	T	0.77	-7.7272	2.1276	0.03742	0.5865:0.1339:0.1506:0.129	.	330	Q5T2E6	CJ076_HUMAN	A	330	.	ENSP00000359050:V330A	V	-	2	0	C10orf76	103756346	0.292000	0.24362	1.000000	0.80357	0.935000	0.57460	1.817000	0.39002	1.020000	0.39573	0.533000	0.62120	GTC	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050007.1		-	ENST00000370033.4	Missense_Mutation	SNP	10 : 103766356 - 103766356 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	630	117
ZNF230	7773	broad.mit.edu	37	19	44514566	44514566	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44514566G>T	ENST00000429154.2	+	5	603	c.375G>T	c.(373-375)caG>caT	p.Q125H		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	125	KRNB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				TCCCCTCCCAGGTTGAGGCAG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(175;914 2069 22996 47111 52600)							NA				0													102	96	98			NA	NA	19		NA											NA				44514566		2203	4300	6503	SO:0001583	missense			U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882	7773	7773		Zinc fingers, C2H2-type, -	13024	protein-coding gene	gene with protein product					NA		Standard		NM_006300	NA	Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.375G>T	19.37:g.44514566G>T	ENSP00000409318:p.Gln125His	NA	O15322|Q504X7|Q86W84|Q9P1U6	37	CCDS33044.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.465658	0.26335	.	.	ENSG00000159882	ENST00000429154	T	0.05580	3.42	2.36	1.11	0.20524	.	.	.	.	.	T	0.03871	0.0109	N	0.17345	0.48	0.09310	N	1	B	0.17268	0.021	B	0.16289	0.015	T	0.39901	-0.9591	9	0.36615	T	0.2	.	5.4808	0.16723	0.0:0.0:0.6706:0.3294	.	125	Q9UIE0	ZN230_HUMAN	H	125	ENSP00000409318:Q125H	ENSP00000409318:Q125H	Q	+	3	2	ZNF230	49206406	0.000000	0.05858	0.003000	0.11579	0.608000	0.37181	-0.729000	0.04920	1.299000	0.44798	0.205000	0.17691	CAG	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460456.1		+	ENST00000429154.2	Missense_Mutation	SNP	19 : 44514566 - 44514566 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	443	77
PEAR1	375033	broad.mit.edu	37	1	156876547	156876547	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156876547C>T	ENST00000338302.3	+	7	744	c.519C>T	c.(517-519)aaC>aaT	p.N173N	PEAR1_ENST00000292357.7_Silent_p.N173N			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	173						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGCCCCCGAACTGCCTTCAGC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	121	127			NA	NA	1		NA											NA				156876547		2203	4300	6503	SO:0001819	synonymous_variant			AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800	375033	375033			33631	protein-coding gene	gene with protein product		610278	multiple EGF-like-domains 12	MEGF12	NA	15851471	Standard	NM_001080471	NM_001080471	NA	Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.519C>T	1.37:g.156876547C>T		NA	Q8TEK2	37	CCDS30892.1																																																																																			PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000098937.2		+	ENST00000338302.3	Silent	SNP	1 : 156876547 - 156876547 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	732	171
JAK2	3717	broad.mit.edu	37	9	5069022	5069022	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5069022C>T	ENST00000381652.3	+	11	1821	c.1327C>T	c.(1327-1329)Cga>Tga	p.R443*	JAK2_ENST00000539801.1_Splice_Site_p.R443*|JAK2_ENST00000544510.1_Splice_Site_p.R294*	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	443	SH2; atypical.	Breakpoint for translocation to form PCM1-JAK2 fusion protein.			actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		ACTTATACAGCGAGAAAATGT	0.328		1	T, Mis, O	ETV6, PCM1, BCR	ALL, AML, MPD,  CML				Polycythemia Vera, Familial					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		9	9p24	3717	Janus kinase 2		L	0													52	58	56			NA	NA	9		NA											NA				5069022		2203	4299	6502	SO:0001630	splice_region_variant	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	3717	3717	2.7.10.1	SH2 domain containing	6192	protein-coding gene	gene with protein product		147796			NA	1848670	Standard		NM_004972	NA	Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1327-1C>T	9.37:g.5069022C>T		NA	O14636|O75297	37	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	C	40	8.190073	0.98699	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	.	.	.	5.02	2.04	0.26737	.	0.488046	0.20689	N	0.087500	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.4355	14.0004	0.64431	0.3937:0.6063:0.0:0.0	.	.	.	.	X	443;443;294	.	.	R	+	1	2	JAK2	5059022	0.998000	0.40836	0.984000	0.44739	0.963000	0.63663	0.477000	0.22196	0.111000	0.17947	0.591000	0.81541	CGA	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051609.1	Nonsense_Mutation	+	ENST00000381652.3	Splice_Site	SNP	9 : 5069022 - 5069022 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	31
CCKAR	886	broad.mit.edu	37	4	26491823	26491823	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26491823C>T	ENST00000295589.3	-	1	261	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	23					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GTCTCATTTTCGAGCCCGAGT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	97	103			NA	NA	4		NA											NA				26491823		2203	4300	6503	SO:0001583	missense			L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394	886	886		GPCR / Class A : Cholecystokinin receptors	1570	protein-coding gene	gene with protein product		118444			NA		Standard		NM_000730	NA	Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.67G>A	4.37:g.26491823C>T	ENSP00000295589:p.Glu23Lys	NA	B2R9Z5	37	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.575313	0.45902	.	.	ENSG00000163394	ENST00000295589	T	0.51071	0.72	5.27	4.42	0.53409	Cholecystokinin A receptor, N-terminal (2);	0.151828	0.43579	D	0.000542	T	0.38585	0.1046	L	0.60455	1.87	0.36322	D	0.858324	B	0.16603	0.018	B	0.12156	0.007	T	0.32052	-0.9921	10	0.07644	T	0.81	.	10.6755	0.45783	0.0:0.913:0.0:0.087	.	23	P32238	CCKAR_HUMAN	K	23	ENSP00000295589:E23K	ENSP00000295589:E23K	E	-	1	0	CCKAR	26100921	0.774000	0.28592	0.115000	0.21578	0.971000	0.66376	1.594000	0.36697	2.477000	0.83638	0.655000	0.94253	GAA	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250418.2		-	ENST00000295589.3	Missense_Mutation	SNP	4 : 26491823 - 26491823 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	255	54
ZNF443	10224	broad.mit.edu	37	19	12541361	12541361	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12541361C>T	ENST00000301547.5	-	4	1822	c.1625G>A	c.(1624-1626)gGt>gAt	p.G542D	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	542					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						ATCATAATGACCGAAGGCTTT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	114	116			NA	NA	19		NA											NA				12541361		2203	4300	6503	SO:0001583	missense			AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855	10224	10224		Zinc fingers, C2H2-type, -	20878	protein-coding gene	gene with protein product		606697			NA	9731181	Standard	NM_005815	NM_005815	NA	Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.1625G>A	19.37:g.12541361C>T	ENSP00000301547:p.Gly542Asp	NA		37	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	C	5.613	0.297925	0.10622	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.07444	3.19	1.37	-1.44	0.08856	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04407	0.0121	N	0.16066	0.365	0.09310	N	1	B	0.06786	0.001	B	0.15052	0.012	T	0.41161	-0.9524	9	0.40728	T	0.16	.	4.9344	0.13934	0.567:0.2447:0.1883:0.0	.	542	Q9Y2A4	ZN443_HUMAN	D	542	ENSP00000301547:G542D	ENSP00000301547:G542D	G	-	2	0	ZNF443	12402361	0.000000	0.05858	0.011000	0.14972	0.069000	0.16628	-7.078000	0.00045	-0.289000	0.09038	0.461000	0.40582	GGT	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344084.1		-	ENST00000301547.5	Missense_Mutation	SNP	19 : 12541361 - 12541361 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	477	17
DSCAM	1826	broad.mit.edu	37	21	41711061	41711061	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41711061G>A	ENST00000400454.1	-	7	1969	c.1492C>T	c.(1492-1494)Cga>Tga	p.R498*		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	498	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ACGTTTATTCGAGCCTGGTAC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(134;970 1778 1785 21664 32388)							NA				0													85	82	83			NA	NA	21		NA											NA				41711061		1968	4171	6139	SO:0001587	stop_gained			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587	1826	1826		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	3039	protein-coding gene	gene with protein product		602523			NA	9426258	Standard	NM_001389	NM_001271534	NA	Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1492C>T	21.37:g.41711061G>A	ENSP00000383303:p.Arg498*	NA	O60468	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	38	6.699790	0.97772	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	.	.	.	6.08	4.28	0.50868	.	0.076737	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2318	0.54492	0.0643:0.1204:0.8153:0.0	.	.	.	.	X	498;250	.	ENSP00000383303:R498X	R	-	1	2	DSCAM	40632931	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	9.751000	0.98889	0.903000	0.36546	-0.165000	0.13383	CGA	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195029.1		-	ENST00000400454.1	Nonsense_Mutation	SNP	21 : 41711061 - 41711061 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	374	89
CDH18	1016	broad.mit.edu	37	5	19483440	19483440	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:19483440C>T	ENST00000506372.1	-	0	2257				CDH18_ENST00000502796.1_3'UTR|CDH18_ENST00000274170.4_Missense_Mutation_p.A618T|CDH18_ENST00000382275.1_Missense_Mutation_p.A618T|CDH18_ENST00000507958.1_Missense_Mutation_p.A618T			Q13634	CAD18_HUMAN	cadherin 18, type 2	NA					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGAAGAATAGCGATTAAGGCT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	63	64			NA	NA	5		NA											NA				19483440		2203	4300	6503	SO:0001624	3_prime_UTR_variant			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526	1016	1016		Cadherins / Major cadherins	1757	protein-coding gene	gene with protein product		603019			NA	9030594, 10191097	Standard	NM_004934	NM_004934	NA	Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000506372.1:c.*18G>A	5.37:g.19483440C>T		NA	A8K0I2|Q8N5Z2	37		.	.	.	.	.	.	.	.	.	.	C	34	5.321308	0.95682	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	T;T;T	0.64618	-0.11;-0.11;-0.11	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.72875	0.3515	M	0.74389	2.26	0.58432	D	0.999999	D	0.65815	0.995	P	0.52159	0.691	T	0.74315	-0.3705	9	.	.	.	.	18.0513	0.89349	0.0:1.0:0.0:0.0	.	618	Q13634	CAD18_HUMAN	T	618	ENSP00000371710:A618T;ENSP00000425093:A618T;ENSP00000274170:A618T	.	A	-	1	0	CDH18	19519197	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.615000	0.88500	0.655000	0.94253	GCT	CDH18-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000366746.1		-	ENST00000506372.1	3'UTR	SNP	5 : 19483440 - 19483440 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	188	30
NELL2	4753	broad.mit.edu	37	12	45105088	45105088	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:45105088G>A	ENST00000429094.2	-	11	1680	c.1176C>T	c.(1174-1176)tgC>tgT	p.C392C	NELL2_ENST00000395487.2_Silent_p.C391C|NELL2_ENST00000551601.1_Silent_p.C391C|NELL2_ENST00000333837.4_Silent_p.C415C|NELL2_ENST00000452445.2_Silent_p.C392C|NELL2_ENST00000549027.1_Silent_p.C391C|NELL2_ENST00000437801.2_Silent_p.C442C	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	392	VWFC 2.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TACAAACTTTGCAACAGCTGT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	105	108			NA	NA	12		NA											NA				45105088		2203	4300	6503	SO:0001819	synonymous_variant			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613	4753	4753			7751	protein-coding gene	gene with protein product		602320	nel (chicken)-like 2		NA	19249368	Standard	NM_006159	NM_006159	NA	Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.1176C>T	12.37:g.45105088G>A		NA		37	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	G	9.579	1.122990	0.20959	.	.	ENSG00000184613	ENST00000550313	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	T	0.76652	0.4017	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74331	-0.3700	4	.	.	.	-14.136	20.0473	0.97613	0.0:0.0:1.0:0.0	.	.	.	.	V	136	.	.	A	-	2	0	NELL2	43391355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.307000	0.51888	2.722000	0.93159	0.655000	0.94253	GCA	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404180.1		-	ENST00000429094.2	Silent	SNP	12 : 45105088 - 45105088 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	345	58
PIK3CD	5293	broad.mit.edu	37	1	9781612	9781612	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9781612G>T	ENST00000377346.4	+	15	2117	c.1922G>T	c.(1921-1923)cGc>cTc	p.R641L	PIK3CD_ENST00000543390.1_Missense_Mutation_p.R308L|PIK3CD_ENST00000361110.2_Missense_Mutation_p.R665L|PIK3CD_ENST00000536656.1_Missense_Mutation_p.R665L	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	641					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		CTGGCCAACCGCAAGATCGGC	0.622		NA									OREG0013082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	58	57			NA	NA	1		NA											NA				9781612		2203	4300	6503	SO:0001583	missense				CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	5293	5293	2.7.1.153		8977	protein-coding gene	gene with protein product	phosphatidylinositol 3-kinase, catalytic, delta polypeptide, phosphoinositide-3-kinase C	602839	phosphoinositide-3-kinase, catalytic, delta polypeptide		NA	9113989, 9455486	Standard	NM_005026	NM_005026	NA	Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.1922G>T	1.37:g.9781612G>T	ENSP00000366563:p.Arg641Leu	659	A6NCG0|O15445|Q5SR49	37	CCDS104.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.556184	0.45487	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563;ENST00000543390	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	5.72	3.87	0.44632	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.161426	0.52532	D	0.000071	T	0.69415	0.3108	L	0.45698	1.435	0.43099	D	0.994787	P;D;P	0.64830	0.891;0.994;0.942	P;P;P	0.62740	0.745;0.906;0.805	T	0.70988	-0.4722	10	0.72032	D	0.01	-40.8581	11.4631	0.50221	0.1442:0.0:0.8558:0.0	.	640;665;641	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	L	665;641;665;665;308	ENSP00000446444:R665L;ENSP00000366563:R641L;ENSP00000354410:R665L;ENSP00000443811:R308L	ENSP00000353766:R665L	R	+	2	0	PIK3CD	9704199	1.000000	0.71417	0.998000	0.56505	0.005000	0.04900	5.817000	0.69229	0.792000	0.33850	-0.142000	0.14014	CGC	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000004235.1		+	ENST00000377346.4	Missense_Mutation	SNP	1 : 9781612 - 9781612 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	238	15
GALNT8	26290	broad.mit.edu	37	12	4874633	4874633	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4874633G>T	ENST00000252318.2	+	10	2019	c.1682G>T	c.(1681-1683)gGc>gTc	p.G561V		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	561	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						ACAGACCCTGGCAAGGCGGAG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(108;631 1558 7270 20097 39846)							NA				0													115	110	112			NA	NA	12		NA											NA				4874633		2203	4300	6503	SO:0001583	missense			AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	26290	26290	2.4.1.41	Glycosyltransferase family 2 domain containing	4130	protein-coding gene	gene with protein product	polypeptide GalNAc transferase 8	606250	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)		NA	10767557	Standard	NM_017417	NM_017417	NA	Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.1682G>T	12.37:g.4874633G>T	ENSP00000252318:p.Gly561Val	NA	B2RU02	37	CCDS8533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.85|10.85	1.467896|1.467896	0.26335|0.26335	.|.	.|.	ENSG00000130035|ENSG00000130035	ENST00000542998;ENST00000535354|ENST00000252318	.|T	.|0.35973	.|1.28	4.19|4.19	3.28|3.28	0.37604|0.37604	.|Ricin B-related lectin (1);Ricin B lectin (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57213|0.57213	0.2038|0.2038	M|M	0.79258|0.79258	2.445|2.445	0.37228|0.37228	D|D	0.905561|0.905561	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.64377|0.64377	-0.6422|-0.6422	5|10	.|0.62326	.|D	.|0.03	.|.	9.7348|9.7348	0.40382|0.40382	0.0:0.2109:0.7891:0.0|0.0:0.2109:0.7891:0.0	.|.	.|561	.|Q9NY28	.|GALT8_HUMAN	S|V	78;57|561	.|ENSP00000252318:G561V	.|ENSP00000252318:G561V	A|G	+|+	1|2	0|0	GALNT8|GALNT8	4744894|4744894	1.000000|1.000000	0.71417|0.71417	0.279000|0.279000	0.24732|0.24732	0.046000|0.046000	0.14306|0.14306	4.814000|4.814000	0.62627|0.62627	0.947000|0.947000	0.37659|0.37659	0.655000|0.655000	0.94253|0.94253	GCA|GGC	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388277.2		+	ENST00000252318.2	Missense_Mutation	SNP	12 : 4874633 - 4874633 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	307	56
SEC14L3	266629	broad.mit.edu	37	22	30856091	30856091	+	Missense_Mutation	SNP	C	C	T	rs142573310	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30856091C>T	ENST00000215812.4	-	12	1210	c.1120G>A	c.(1120-1122)Gcc>Acc	p.A374T	SEC14L3_ENST00000402286.1_Missense_Mutation_p.A297T|SEC14L3_ENST00000539629.1_Missense_Mutation_p.A315T|SEC14L3_ENST00000540910.1_Missense_Mutation_p.A297T|SEC14L3_ENST00000403066.1_Intron|SEC14L3_ENST00000415957.2_Intron|SEC14L3_ENST00000401751.1_Missense_Mutation_p.A315T	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	374	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	ACCTTCTTGGCGTGGACAAAG	0.527		NA											C	1	5e-04	NA	NA	2184	NA	0.9998	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.8665	LOWCOV	NA	NA	2e-04	SNP	Esophageal Squamous(108;290 1516 3584 23771 37333)							NA				0								C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	130	108	115		1120	-0.9	0.7	22	dbSNP_134	115	8,8592	6.4+/-24.3	0,8,4292	yes	missense	SEC14L3	NM_174975.4	58	0,9,6494	TT,TC,CC	NA	0.093,0.0227,0.0692	benign	374/401	30856091	9,12997	2203	4300	6503	SO:0001583	missense			AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012	266629	266629			18655	protein-coding gene	gene with protein product		612824			NA		Standard	NM_174975	NM_174975	NA	Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.1120G>A	22.37:g.30856091C>T	ENSP00000215812:p.Ala374Thr	NA	Q495V8	37	CCDS13877.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.88	2.070140	0.36566	2.27E-4	9.3E-4	ENSG00000100012	ENST00000215812;ENST00000402286;ENST00000401751;ENST00000539629;ENST00000540910	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.95	-0.882	0.10604	GOLD (2);	0.273852	0.41396	N	0.000882	T	0.26810	0.0656	N	0.25286	0.73	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.08889	-1.0700	10	0.36615	T	0.2	-7.9929	13.8199	0.63313	0.0:0.901:0.0:0.099	.	297;374	E9PE57;Q9UDX4	.;S14L3_HUMAN	T	374;297;315;315;297	ENSP00000215812:A374T;ENSP00000385004:A297T;ENSP00000383896:A315T;ENSP00000444691:A315T;ENSP00000439752:A297T	ENSP00000215812:A374T	A	-	1	0	SEC14L3	29186091	0.001000	0.12720	0.684000	0.30055	0.984000	0.73092	-0.083000	0.11286	0.037000	0.15575	0.655000	0.94253	GCC	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321950.4		-	ENST00000215812.4	Missense_Mutation	SNP	22 : 30856091 - 30856091 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	462	74
HAND2	9464	broad.mit.edu	37	4	174450017	174450017	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:174450017G>A	ENST00000359562.4	-	1	1363	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C	HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000515310.1_RNA|HAND2-AS1_ENST00000512099.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	142	Helix-loop-helix motif.				adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GTGGCCAGGCGCAGGGTCTTG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	151	155			NA	NA	4		NA											NA				174450017		2203	4300	6503	SO:0001583	missense			AF087941	CCDS3819.1	4q34.1	2014-08-12			ENSG00000164107	ENSG00000164107	9464	9464		Basic helix-loop-helix proteins	4808	protein-coding gene	gene with protein product		602407			NA	9878849	Standard		NM_021973	NA	Approved	dHand, Thing2, Hed, bHLHa26	uc003ith.1	P61296	OTTHUMG00000160775	ENST00000359562.4:c.424C>T	4.37:g.174450017G>A	ENSP00000352565:p.Arg142Cys	NA	O95300|O95301|P97833	37	CCDS3819.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.574715	0.65878	.	.	ENSG00000164107	ENST00000359562;ENST00000393686;ENST00000535864	D	0.98280	-4.84	4.72	3.87	0.44632	Helix-loop-helix DNA-binding (5);	0.055039	0.64402	D	0.000001	D	0.99180	0.9716	H	0.94264	3.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99218	1.0878	10	0.87932	D	0	-18.2081	14.3353	0.66584	0.0:0.0:0.8507:0.1493	.	142;142	B6ECG9;P61296	.;HAND2_HUMAN	C	142;111;90	ENSP00000352565:R142C	ENSP00000352565:R142C	R	-	1	0	HAND2	174686592	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	6.410000	0.73294	1.186000	0.42985	-0.314000	0.08810	CGC	HAND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362241.3		-	ENST00000359562.4	Missense_Mutation	SNP	4 : 174450017 - 174450017 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	748	31
LYST	1130	broad.mit.edu	37	1	235952092	235952092	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235952092C>T	ENST00000389794.3	-	13	4771	c.4597G>A	c.(4597-4599)Gaa>Aaa	p.E1533K	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.E1533K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1533					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CATCCTTCTTCTATGAGTCTT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	90	93			NA	NA	1		NA											NA				235952092		2203	4300	6503	SO:0001583	missense			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669	1130	1130		WD repeat domain containing	1968	protein-coding gene	gene with protein product		606897	Chediak-Higashi syndrome 1	CHS1	NA	8717042, 8896560	Standard		NM_000081	NA	Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.4597G>A	1.37:g.235952092C>T	ENSP00000374444:p.Glu1533Lys	NA	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	33	5.288043	0.95517	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.62232	0.04;0.04	5.49	5.49	0.81192	.	5.737730	0.00166	N	0.000009	T	0.76054	0.3934	L	0.56769	1.78	0.80722	D	1	D	0.58268	0.982	P	0.52909	0.713	T	0.61691	-0.7011	10	0.48119	T	0.1	.	17.5709	0.87934	0.0:1.0:0.0:0.0	.	1533	Q99698	LYST_HUMAN	K	1533	ENSP00000374444:E1533K;ENSP00000374443:E1533K	ENSP00000374443:E1533K	E	-	1	0	LYST	234018715	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	6.646000	0.74348	2.585000	0.87301	0.563000	0.77884	GAA	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097533.5		-	ENST00000389794.3	Missense_Mutation	SNP	1 : 235952092 - 235952092 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	242	63
FAM198B	51313	broad.mit.edu	37	4	159091641	159091641	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159091641C>A	ENST00000296530.8	-	2	1508	c.887G>T	c.(886-888)aGc>aTc	p.S296I	FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000585682.1_Missense_Mutation_p.S296I|FAM198B_ENST00000393807.5_Missense_Mutation_p.S296I|FAM198B_ENST00000592057.1_Missense_Mutation_p.S296I	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	296						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TGCTTTCCTGCTCACAGACGG	0.502		NA									OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	70	68			NA	NA	4		NA											NA				159091641		2203	4300	6503	SO:0001583	missense				CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125	51313	51313			25312	protein-coding gene	gene with protein product			chromosome 4 open reading frame 18	C4orf18	NA	12975309	Standard	NM_001031700, NM_016613	NM_001031700	NA	Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.887G>T	4.37:g.159091641C>A	ENSP00000296530:p.Ser296Ile	1798	Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	37	CCDS3798.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658859	0.88154	.	.	ENSG00000164125	ENST00000337222;ENST00000296530;ENST00000393807;ENST00000417442	T;T	0.34072	1.38;1.38	5.4	5.4	0.78164	.	0.079566	0.85682	D	0.000000	T	0.61899	0.2384	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.988;0.992;0.978	T	0.64605	-0.6368	10	0.72032	D	0.01	-22.296	19.2318	0.93843	0.0:1.0:0.0:0.0	.	296;296;296	Q6UWH4-3;Q6UWH4-2;Q6UWH4	.;.;F198B_HUMAN	I	296	ENSP00000296530:S296I;ENSP00000377396:S296I	ENSP00000296530:S296I	S	-	2	0	FAM198B	159311091	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.458000	0.66679	2.536000	0.85505	0.558000	0.71614	AGC	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365230.1		-	ENST00000296530.8	Missense_Mutation	SNP	4 : 159091641 - 159091641 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	511	84
CPT2	1376	broad.mit.edu	37	1	53676305	53676305	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53676305C>T	ENST00000371486.3	+	4	1474	c.959C>T	c.(958-960)tCg>tTg	p.S320L	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	320					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	AAAGTGGACTCGGCAGTGTTC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	81	83			NA	NA	1		NA											NA				53676305		2203	4300	6503	SO:0001583	missense			BC002445	CCDS575.1	1p32.3	2014-01-09	2009-03-04		ENSG00000157184	ENSG00000157184	1376	1376	2.3.1.21		2330	protein-coding gene	gene with protein product		600650	carnitine palmitoyltransferase II	CPT1	NA	1339389	Standard	NM_000098	NM_000098	NA	Approved	CPTASE	uc001cvb.4	P23786	OTTHUMG00000008942	ENST00000371486.3:c.959C>T	1.37:g.53676305C>T	ENSP00000360541:p.Ser320Leu	NA	B2R6S0|Q5SW68|Q9BQ26	37	CCDS575.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894892	0.72639	.	.	ENSG00000157184	ENST00000371486	D	0.91295	-2.82	5.51	5.51	0.81932	.	0.206216	0.50627	D	0.000101	D	0.96842	0.8969	H	0.94964	3.605	0.45415	D	0.998399	D	0.89917	1.0	D	0.74023	0.982	D	0.97558	1.0096	10	0.72032	D	0.01	-27.5427	19.4394	0.94811	0.0:1.0:0.0:0.0	.	320	P23786	CPT2_HUMAN	L	320	ENSP00000360541:S320L	ENSP00000360541:S320L	S	+	2	0	CPT2	53448893	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	3.438000	0.52871	2.581000	0.87130	0.655000	0.94253	TCG	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000024757.1		+	ENST00000371486.3	Missense_Mutation	SNP	1 : 53676305 - 53676305 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	400	43
PREX1	57580	broad.mit.edu	37	20	47324875	47324875	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47324875T>C	ENST00000371941.3	-	6	728	c.706A>G	c.(706-708)Aac>Gac	p.N236D	PREX1_ENST00000396220.1_Missense_Mutation_p.N236D	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	236	DH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TCATTGATGTTGGAGCAAACG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	141	140			NA	NA	20		NA											NA				47324875		2203	4300	6503	SO:0001583	missense			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126	57580	57580		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	32594	protein-coding gene	gene with protein product		606905			NA	11955434, 15545267, 16301320	Standard	NM_020820	NM_020820	NA	Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.706A>G	20.37:g.47324875T>C	ENSP00000361009:p.Asn236Asp	NA	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	T	31	5.083529	0.94050	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.62788	-0.0;-0.0	5.64	5.64	0.86602	Dbl homology (DH) domain (5);	0.000000	0.64402	U	0.000016	T	0.73536	0.3599	L	0.48935	1.535	0.58432	D	0.999999	D	0.69078	0.997	D	0.74348	0.983	T	0.74685	-0.3582	10	0.52906	T	0.07	.	15.8578	0.78994	0.0:0.0:0.0:1.0	.	236	Q8TCU6	PREX1_HUMAN	D	236	ENSP00000361009:N236D;ENSP00000379522:N236D	ENSP00000361009:N236D	N	-	1	0	PREX1	46758282	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.939000	0.70179	2.147000	0.66899	0.533000	0.62120	AAC	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079623.1		-	ENST00000371941.3	Missense_Mutation	SNP	20 : 47324875 - 47324875 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1135	42
ITGA6	3655	broad.mit.edu	37	2	173368845	173368845	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173368845C>T	ENST00000409080.1	+	25	3141	c.3141C>T	c.(3139-3141)taC>taT	p.Y1047Y	ITGA6_ENST00000343713.4_3'UTR|ITGA6_ENST00000264107.7_3'UTR|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000375221.2_3'UTR|ITGA6_ENST00000409532.1_3'UTR|AC093818.1_ENST00000450443.1_RNA|ITGA6_ENST00000264106.6_Silent_p.Y1086Y	NM_001079818.1	NP_001073286.1	P23229	ITA6_HUMAN	integrin, alpha 6	1086					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GCTCTAGGTACGATGACAGTG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	1,3697		0,1,1848	55	50	51		,3141	6	1	2		51	1,8197		0,1,4098	no	utr-3,coding-synonymous	ITGA6	NM_000210.2,NM_001079818.1	,	0,2,5946	TT,TC,CC	NA	0.0122,0.027,0.0168	,	,1047/1092	173368845	2,11894	1849	4099	5948	SO:0001819	synonymous_variant				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409	NA	3655		CD molecules, Integrins	6142	protein-coding gene	gene with protein product		147556			NA		Standard		NM_001079818	NA	Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000409080.1:c.3141C>T	2.37:g.173368845C>T		NA	B2RMU9|B4DG69|B4DKB8|C4AM96|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	37	CCDS46451.1																																																																																			ITGA6-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333825.1		+	ENST00000409080.1	Silent	SNP	2 : 173368845 - 173368845 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	75	21
MYO9A	4649	broad.mit.edu	37	15	72338363	72338363	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72338363C>A	ENST00000564571.1	-	2	701	c.542G>T	c.(541-543)aGt>aTt	p.S181I	MYO9A_ENST00000424560.1_Missense_Mutation_p.S181I|MYO9A_ENST00000356056.5_Missense_Mutation_p.S181I|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.S181I|MYO9A_ENST00000566885.1_Intron			B2RTY4	MYO9A_HUMAN	myosin IXA	181	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TATTAGAATACTGCCAACATA	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	70	68			NA	NA	15		NA											NA				72338363		2199	4297	6496	SO:0001583	missense			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933	4649	4649		Myosins / Myosin superfamily : Class IX	7608	protein-coding gene	gene with protein product		604875			NA	10409426	Standard	NM_006901	NM_006901	NA	Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000564571.1:c.542G>T	15.37:g.72338363C>A	ENSP00000456192:p.Ser181Ile	NA	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	37		.	.	.	.	.	.	.	.	.	.	c	18.62	3.662272	0.67700	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.87179	-2.22;-2.22;-2.22	5.8	5.8	0.92144	Myosin head, motor domain (3);	.	.	.	.	D	0.90696	0.7081	L	0.43598	1.365	0.58432	D	0.999995	P;D;D	0.63046	0.948;0.975;0.992	P;P;D	0.70487	0.759;0.861;0.969	D	0.91177	0.4973	9	0.87932	D	0	.	15.587	0.76491	0.0:0.863:0.137:0.0	.	181;181;181	B2RTY4-3;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	I	181	ENSP00000348349:S181I;ENSP00000399162:S181I;ENSP00000398250:S181I	ENSP00000261864:S181I	S	-	2	0	MYO9A	70125417	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.832000	0.55783	2.749000	0.94314	0.650000	0.86243	AGT	MYO9A-015	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000420905.1		-	ENST00000564571.1	Missense_Mutation	SNP	15 : 72338363 - 72338363 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	400	82
SP140	11262	broad.mit.edu	37	2	231174738	231174738	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231174738C>T	ENST00000343805.6	+	21	2078	c.1978C>T	c.(1978-1980)Cct>Tct	p.P660S	SP140_ENST00000486687.2_Missense_Mutation_p.P644S|SP140_ENST00000417495.3_Missense_Mutation_p.P606S|SP140_ENST00000420434.3_Missense_Mutation_p.P693S|SP140_ENST00000350136.5_Missense_Mutation_p.P589S|SP140_ENST00000392045.3_Missense_Mutation_p.P720S	NM_001278452.1	NP_001265381.1	Q13342	LY10_HUMAN	SP140 nuclear body protein	720	SAND.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCACATCCCGCCTGTGGAAGC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	125	122			NA	NA	2		NA											NA				231174738		2186	4296	6482	SO:0001583	missense			U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263	11262	11262		Zinc fingers, PHD-type	17133	protein-coding gene	gene with protein product		608602			NA	8695863, 8910577, 12368356	Standard	NM_007237	NM_001005176	NA	Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000343805.6:c.1978C>T	2.37:g.231174738C>T	ENSP00000342096:p.Pro660Ser	NA	Q13341|Q4ZG66|Q53TG1|Q92881|Q96TG3	37		.	.	.	.	.	.	.	.	.	.	C	9.802	1.180769	0.21787	.	.	ENSG00000079263	ENST00000486687;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87	2.91	0.963	0.19649	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	.	.	.	.	D	0.86990	0.6066	L	0.52126	1.63	0.09310	N	1	D;D;D;P	0.89917	1.0;0.993;0.996;0.757	D;D;D;P	0.83275	0.996;0.968;0.986;0.457	T	0.73871	-0.3846	9	0.44086	T	0.13	-1.6218	4.0335	0.09719	0.0:0.6115:0.2464:0.1421	.	693;606;660;720	E7EUR5;E7ESH9;E9PFJ6;Q13342	.;.;.;LY10_HUMAN	S	644;589;720;606;660;693	ENSP00000440107:P644S;ENSP00000345846:P589S;ENSP00000375899:P720S;ENSP00000342096:P660S;ENSP00000398210:P693S	ENSP00000342096:P660S	P	+	1	0	SP140	230882982	0.000000	0.05858	0.070000	0.20053	0.074000	0.17049	0.115000	0.15540	0.255000	0.21593	0.456000	0.33151	CCT	SP140-009	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000338219.1		+	ENST00000343805.6	Missense_Mutation	SNP	2 : 231174738 - 231174738 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	36
TCERG1	10915	broad.mit.edu	37	5	145849225	145849225	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145849225A>C	ENST00000296702.5	+	7	1355	c.1317A>C	c.(1315-1317)aaA>aaC	p.K439N	TCERG1_ENST00000394421.2_Missense_Mutation_p.K418N	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	439	WW 2.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGAATATAAAACAGCAGATG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	137	132			NA	NA	5		NA											NA				145849225		2203	4300	6503	SO:0001583	missense			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649	10915	10915			15630	protein-coding gene	gene with protein product	transcription factor CA150, co-activator of 150 kDa, TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD, TATA box-binding protein-associated factor 2S	605409	TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD	TAF2S	NA	9315662, 11003711	Standard	NM_001040006	XM_005268365	NA	Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1317A>C	5.37:g.145849225A>C	ENSP00000296702:p.Lys439Asn	NA	Q2NKN2|Q59EA1	37	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.047626	0.55110	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	D;D	0.82526	-1.62;-1.62	5.71	2.04	0.26737	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	D	0.87669	0.6235	M	0.62209	1.925	0.54753	D	0.99998	D;D;D	0.76494	0.999;0.989;0.991	D;D;D	0.85130	0.997;0.978;0.987	D	0.85526	0.1206	10	0.72032	D	0.01	-21.9365	9.2165	0.37351	0.7945:0.0:0.2055:0.0	.	418;418;439	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	N	439;418	ENSP00000296702:K439N;ENSP00000377943:K418N	ENSP00000296702:K439N	K	+	3	2	TCERG1	145829418	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.265000	0.33027	0.119000	0.18210	0.460000	0.39030	AAA	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251886.1		+	ENST00000296702.5	Missense_Mutation	SNP	5 : 145849225 - 145849225 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1144	213
LOXL4	84171	broad.mit.edu	37	10	100021971	100021971	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100021971C>A	ENST00000260702.3	-	3	428		c.e3-1			NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	NA						extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		CAGATGGGTCCTGTGGAGTGG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	52	53			NA	NA	10		NA											NA				100021971		2203	4300	6503	SO:0001630	splice_region_variant			AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131	84171	84171			17171	protein-coding gene	gene with protein product		607318			NA	11292829	Standard	NM_032211	XM_005270216	NA	Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.278-1G>T	10.37:g.100021971C>A		NA	Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	37	CCDS7473.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203068	0.79127	.	.	ENSG00000138131	ENST00000260702	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6443	0.88145	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LOXL4	100011961	1.000000	0.71417	0.932000	0.37286	0.868000	0.49771	7.598000	0.82745	2.157000	0.67596	0.561000	0.74099	.	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049766.1	Intron	-	ENST00000260702.3	Splice_Site	SNP	10 : 100021971 - 100021971 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	211	40
GRM1	2911	broad.mit.edu	37	6	146625805	146625805	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146625805G>A	ENST00000392299.2	+	4	1479	c.1009G>A	c.(1009-1011)Gga>Aga	p.G337R	GRM1_ENST00000355289.4_Missense_Mutation_p.G337R|GRM1_ENST00000492807.2_Missense_Mutation_p.G337R|GRM1_ENST00000282753.1_Missense_Mutation_p.G337R|GRM1_ENST00000507907.1_Missense_Mutation_p.G337R|GRM1_ENST00000361719.2_Missense_Mutation_p.G337R			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	337					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	AGCCAACGGGGGAATCACGAT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	86	92			NA	NA	6		NA											NA				146625805		2203	4300	6503	SO:0001583	missense			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822	2911	2911		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4593	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 85	604473			NA	9076744, 9376535	Standard	NM_000838	NM_001278064	NA	Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000392299.2:c.1009G>A	6.37:g.146625805G>A	ENSP00000376119:p.Gly337Arg	NA	B9EG79|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	37	CCDS47497.1	.	.	.	.	.	.	.	.	.	.	G	34	5.389791	0.95988	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	6.06	6.06	0.98353	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.88934	0.6572	L	0.53249	1.67	0.80722	D	1	P;D;D	0.89917	0.929;1.0;0.999	P;D;D	0.97110	0.729;1.0;0.986	D	0.88521	0.3096	10	0.87932	D	0	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	337;337;337	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	R	337	ENSP00000354896:G337R;ENSP00000376119:G337R;ENSP00000424095:G337R;ENSP00000282753:G337R;ENSP00000347437:G337R;ENSP00000425599:G337R	ENSP00000282753:G337R	G	+	1	0	GRM1	146667498	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.880000	0.98712	0.650000	0.86243	GGA	GRM1-202	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042575.2		+	ENST00000392299.2	Missense_Mutation	SNP	6 : 146625805 - 146625805 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	201	28
BIRC6	57448	broad.mit.edu	37	2	32673997	32673997	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32673997G>A	ENST00000421745.2	+	22	4752		c.e22+1			NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	NA					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GTCCTTTCAGGTAGTGATTTC	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(94;175 1509 16028 18060 45422)							NA				0													95	99	98			NA	NA	2		NA											NA				32673997		2203	4300	6503	SO:0001630	splice_region_variant			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760	57448	57448		Baculoviral IAP repeat containing, Ubiquitin-conjugating enzymes E2	13516	protein-coding gene	gene with protein product	apollon	605638	baculoviral IAP repeat-containing 6		NA	10544019	Standard	NM_016252	NM_016252	NA	Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.4618+1G>A	2.37:g.32673997G>A		NA	Q9ULD1	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145565	0.77888	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2619	0.87072	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BIRC6	32527501	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	9.754000	0.98908	2.574000	0.86865	0.585000	0.79938	.	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318769.3	Intron	+	ENST00000421745.2	Splice_Site	SNP	2 : 32673997 - 32673997 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	71
TNFRSF13C	115650	broad.mit.edu	37	22	42321490	42321490	+	Missense_Mutation	SNP	G	G	T	rs151243201	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42321490G>T	ENST00000291232.3	-	3	480	c.436C>A	c.(436-438)Cct>Act	p.P146T		NM_052945.3	NP_443177.1	Q96RJ3	TR13C_HUMAN	tumor necrosis factor receptor superfamily, member 13C	146						integral to membrane	receptor activity			lung(2)|urinary_tract(1)	3						CCAGGAGGAGGCCAGGCAGGA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	65	65			NA	NA	22		NA											NA				42321490		2203	4300	6503	SO:0001583	missense			AF373846	CCDS14024.1	22q13.1-q13.3	2014-09-17			ENSG00000159958	ENSG00000159958	115650	115650		Tumor necrosis factor receptor superfamily, CD molecules	17755	protein-coding gene	gene with protein product		606269			NA	11509692	Standard		NM_052945	NA	Approved	BAFFR, CD268	uc003bbl.2	Q96RJ3	OTTHUMG00000151271	ENST00000291232.3:c.436C>A	22.37:g.42321490G>T	ENSP00000291232:p.Pro146Thr	NA		37	CCDS14024.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.766959	0.69878	.	.	ENSG00000159958	ENST00000291232	T	0.36520	1.25	4.93	3.77	0.43336	.	0.259797	0.26944	N	0.021715	T	0.25606	0.0623	L	0.29908	0.895	0.34237	D	0.677158	P;P	0.40875	0.731;0.731	B;B	0.38428	0.273;0.273	T	0.40459	-0.9562	10	0.51188	T	0.08	0.6656	9.7503	0.40473	0.1094:0.0:0.8906:0.0	.	146;146	Q5H8V1;Q96RJ3	.;TR13C_HUMAN	T	146	ENSP00000291232:P146T	ENSP00000291232:P146T	P	-	1	0	TNFRSF13C	40651436	0.922000	0.31269	0.822000	0.32727	0.704000	0.40688	1.135000	0.31454	1.214000	0.43395	0.655000	0.94253	CCT	TNFRSF13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322046.1		-	ENST00000291232.3	Missense_Mutation	SNP	22 : 42321490 - 42321490 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	441	30
OR2D2	120776	broad.mit.edu	37	11	6913006	6913006	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6913006G>A	ENST00000299459.2	-	1	824	c.726C>T	c.(724-726)ggC>ggT	p.G242G		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGAGGTGGGAGCCACAGGTAG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	79	81			NA	NA	11		NA											NA				6913006		2201	4296	6497	SO:0001819	synonymous_variant			AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368	120776	120776		GPCR / Class A : Olfactory receptors	8244	protein-coding gene	gene with protein product		608494		OR2D1	NA	9787077	Standard	NM_003700	NM_003700	NA	Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.726C>T	11.37:g.6913006G>A		NA	B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	37	CCDS31416.1																																																																																			OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385986.1		-	ENST00000299459.2	Silent	SNP	11 : 6913006 - 6913006 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	58
NUAK1	9891	broad.mit.edu	37	12	106532208	106532208	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:106532208C>A	ENST00000261402.2	-	1	1603	c.224G>T	c.(223-225)aGg>aTg	p.R75M		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	75	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GCCAGAAAACCTCTCGGTGGC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	42	45			NA	NA	12		NA											NA				106532208		2203	4300	6503	SO:0001583	missense			AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590	9891	9891			14311	protein-coding gene	gene with protein product	AMP-activated protein kinase family member 5	608130			NA	12409306, 13679856	Standard	NM_014840	NM_014840	NA	Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.224G>T	12.37:g.106532208C>A	ENSP00000261402:p.Arg75Met	NA	A7MD39|Q96KA8	37	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146817	0.77888	.	.	ENSG00000074590	ENST00000261402;ENST00000359413	T	0.67345	-0.26	4.07	4.07	0.47477	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000029	T	0.79493	0.4455	M	0.71871	2.18	0.80722	D	1	D	0.71674	0.998	D	0.67231	0.95	T	0.81258	-0.1014	10	0.46703	T	0.11	.	16.2469	0.82449	0.0:1.0:0.0:0.0	.	75	O60285	NUAK1_HUMAN	M	75	ENSP00000261402:R75M	ENSP00000261402:R75M	R	-	2	0	NUAK1	105056338	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	7.197000	0.77814	1.832000	0.53329	0.313000	0.20887	AGG	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405767.2		-	ENST00000261402.2	Missense_Mutation	SNP	12 : 106532208 - 106532208 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	206	35
NAALAD2	10003	broad.mit.edu	37	11	89903276	89903276	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89903276A>G	ENST00000534061.1	+	13	1612	c.1382A>G	c.(1381-1383)tAc>tGc	p.Y461C	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.Y428C	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	461	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CCCCTTCTTTACCAATTAGTG	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	113	110			NA	NA	11		NA											NA				89903276		2199	4289	6488	SO:0001583	missense			AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	10003	10003	3.4.17.21		14526	protein-coding gene	gene with protein product	glutamate carboxypeptidase III	611636			NA	10085079	Standard	NM_005467	NM_005467	NA	Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1382A>G	11.37:g.89903276A>G	ENSP00000432481:p.Tyr461Cys	NA	B3KQR4|Q4VAM9	37	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	A	13.68	2.308005	0.40895	.	.	ENSG00000077616	ENST00000534061;ENST00000321955	T;T	0.40476	1.03;1.03	5.78	4.64	0.57946	Peptidase M28 (1);	0.584174	0.17427	N	0.174618	T	0.59514	0.2199	M	0.69358	2.11	0.80722	D	1	D	0.63880	0.993	D	0.64877	0.93	T	0.57021	-0.7882	9	.	.	.	0.0033	12.3408	0.55093	0.8733:0.0:0.0:0.1267	.	461	Q9Y3Q0	NALD2_HUMAN	C	461;428	ENSP00000432481:Y461C;ENSP00000320083:Y428C	.	Y	+	2	0	NAALAD2	89542924	1.000000	0.71417	0.320000	0.25306	0.309000	0.27889	6.826000	0.75298	1.011000	0.39340	0.454000	0.30748	TAC	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389424.2		+	ENST00000534061.1	Missense_Mutation	SNP	11 : 89903276 - 89903276 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	531	94
NEB	4703	broad.mit.edu	37	2	152527556	152527556	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152527556T>C	ENST00000603639.1	-	36	4486	c.4487A>G	c.(4486-4488)aAc>aGc	p.N1496S	NEB_ENST00000604864.1_Missense_Mutation_p.N1496S|NEB_ENST00000427231.2_Missense_Mutation_p.N1496S|NEB_ENST00000397345.3_Missense_Mutation_p.N1496S|NEB_ENST00000409198.1_Missense_Mutation_p.N1496S|NEB_ENST00000172853.10_Missense_Mutation_p.N1496S			P20929	NEBU_HUMAN	nebulin	1496					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGCTTTGTGTTATGCTGAGC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	141	143			NA	NA	2		NA											NA				152527556		2105	4219	6324	SO:0001583	missense			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091	4703	4703			7720	protein-coding gene	gene with protein product	nemaline myopathy type 2	161650		NEM2	NA	10051637, 9359044	Standard	NM_004543	NM_001164507	NA	Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000603639.1:c.4487A>G	2.37:g.152527556T>C	ENSP00000473894:p.Asn1496Ser	NA	Q15346|Q53QQ2|Q53TG8	37	CCDS54407.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.149237	0.78001	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05081	3.52;3.51;3.53;3.5	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.16385	0.0394	L	0.49571	1.57	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.06625	-1.0816	10	0.06099	T	0.92	.	15.7745	0.78204	0.0:0.0:0.0:1.0	.	1496	P20929	NEBU_HUMAN	S	1496	ENSP00000386259:N1496S;ENSP00000380505:N1496S;ENSP00000416578:N1496S;ENSP00000172853:N1496S	ENSP00000172853:N1496S	N	-	2	0	NEB	152235802	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.068000	0.57534	2.174000	0.68829	0.533000	0.62120	AAC	NEB-017	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000469059.2		-	ENST00000603639.1	Missense_Mutation	SNP	2 : 152527556 - 152527556 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	279	76
ESCO2	157570	broad.mit.edu	37	8	27634227	27634227	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27634227G>A	ENST00000305188.8	+	3	640	c.402G>A	c.(400-402)aaG>aaA	p.K134K	ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	134					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		TCTGCTCCAAGAAGAACAACA	0.338		NA							SC Phocomelia syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	55	55			NA	NA	8		NA											NA				27634227		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320	157570	157570			27230	protein-coding gene	gene with protein product		609353	Roberts syndrome, establishment of cohesion 1 homolog 2 (S. cerevisiae)	RBS	NA	15958495, 16775838, 15821733, 16380922	Standard	NM_001017420	XR_247122	NA	Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.402G>A	8.37:g.27634227G>A		NA	B3KW59	37	CCDS34872.1																																																																																			ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376276.1		+	ENST00000305188.8	Silent	SNP	8 : 27634227 - 27634227 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	251	53
PDZK1	5174	broad.mit.edu	37	1	145748564	145748564	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145748564G>A	ENST00000344770.2	+	3	510	c.437G>A	c.(436-438)gGc>gAc	p.G146D	PDZK1_ENST00000451928.2_Missense_Mutation_p.G146D|PDZK1_ENST00000417171.1_Missense_Mutation_p.G146D	NM_002614.4	NP_002605.2	Q5T2W1	NHRF3_HUMAN	PDZ domain containing 1	146	PDZ 2.				carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport	brush border membrane|cytoplasm	PDZ domain binding|transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			GGCAGCTATGGCTTCTCTCTG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	71	70			NA	NA	1		NA											NA				145748564		2203	4300	6503	SO:0001583	missense			AF012281	CCDS72859.1, CCDS72860.1	1q21	2009-08-21			ENSG00000174827	ENSG00000174827	5174	5174			8821	protein-coding gene	gene with protein product		603831			NA	9461128	Standard	NM_002614	NM_002614	NA	Approved	PDZD1, NHERF3	uc001eoo.2	Q5T2W1	OTTHUMG00000013735	ENST00000344770.2:c.437G>A	1.37:g.145748564G>A	ENSP00000342143:p.Gly146Asp	NA	O60450|Q5T5P6|Q9BQ41	37	CCDS924.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657044	0.67586	.	.	ENSG00000174827	ENST00000443667;ENST00000417171;ENST00000451928;ENST00000344770	T;T;D;T	0.85339	-1.11;-1.11;-1.97;-1.11	5.84	4.93	0.64822	PDZ/DHR/GLGF (4);	0.096016	0.64402	D	0.000001	D	0.92747	0.7694	M	0.93978	3.48	0.58432	D	0.999998	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.99	D	0.94354	0.7582	10	0.87932	D	0	-0.2061	12.6429	0.56718	0.0798:0.0:0.9202:0.0	.	146;146	E7EU02;Q5T2W1	.;NHRF3_HUMAN	D	146	ENSP00000409291:G146D;ENSP00000394485:G146D;ENSP00000403422:G146D;ENSP00000342143:G146D	ENSP00000342143:G146D	G	+	2	0	PDZK1	144459921	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	6.210000	0.72176	1.485000	0.48380	-0.218000	0.12543	GGC	PDZK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000038502.2		+	ENST00000344770.2	Missense_Mutation	SNP	1 : 145748564 - 145748564 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	509	94
CECR2	27443	broad.mit.edu	37	22	18028909	18028909	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18028909C>T	ENST00000400585.2	+	17	3878	c.3440C>T	c.(3439-3441)tCg>tTg	p.S1147L	CECR2_ENST00000400573.5_Missense_Mutation_p.S1289L|CECR2_ENST00000262608.8_Missense_Mutation_p.S1290L			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1331					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CGGCAGAGCTCGTTGTCAGCC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	87	85			NA	NA	22		NA											NA				18028909		1946	4144	6090	SO:0001583	missense			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954	27443	27443			1840	protein-coding gene	gene with protein product		607576			NA	11381032	Standard	NM_031413	XM_006724077	NA	Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.3440C>T	22.37:g.18028909C>T	ENSP00000383428:p.Ser1147Leu	NA	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	37		.	.	.	.	.	.	.	.	.	.	C	6.746	0.506528	0.12883	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.32515	1.58;1.57;1.45	4.68	2.42	0.29668	.	0.371246	0.19324	N	0.117047	T	0.24353	0.0590	M	0.62723	1.935	0.09310	N	0.999999	P;P;P	0.48998	0.918;0.918;0.918	B;B;B	0.33799	0.17;0.17;0.17	T	0.26503	-1.0101	10	0.72032	D	0.01	-8.035	9.019	0.36188	0.0:0.7703:0.1468:0.0829	.	1331;1147;1289	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	L	1147;1289;1290	ENSP00000383428:S1147L;ENSP00000383417:S1289L;ENSP00000262608:S1290L	ENSP00000262608:S1290L	S	+	2	0	CECR2	16408909	0.011000	0.17503	0.010000	0.14722	0.003000	0.03518	2.305000	0.43664	1.105000	0.41606	-0.266000	0.10368	TCG	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000316226.2		+	ENST00000400585.2	Missense_Mutation	SNP	22 : 18028909 - 18028909 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	584	115
DUOX1	53905	broad.mit.edu	37	15	45455883	45455883	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45455883C>A	ENST00000321429.4	+	33	4809	c.4402C>A	c.(4402-4404)Ctg>Atg	p.L1468M	DUOX1_ENST00000561166.1_Missense_Mutation_p.L1114M|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.L1468M	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1468					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GACCACTATGCTGGTATGTCA	0.567		NA									OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	115	119			NA	NA	15		NA											NA				45455883		2198	4298	6496	SO:0001583	missense			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857	53905	53905		EF-hand domain containing	3062	protein-coding gene	gene with protein product	NADPH thyroid oxidase 1, flavoprotein NADPH oxidase, nicotinamide adenine dinucleotide phosphate oxidase	606758			NA	10806195	Standard	NM_017434	XM_005254463	NA	Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.4402C>A	15.37:g.45455883C>A	ENSP00000317997:p.Leu1468Met	931	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	37	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.094597	0.56075	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.95035	-3.59;-3.59	4.36	1.21	0.21127	Ferric reductase, NAD binding (1);	0.000000	0.64402	D	0.000001	D	0.95971	0.8688	M	0.77313	2.365	0.80722	D	1	D	0.71674	0.998	D	0.74348	0.983	D	0.94379	0.7603	10	0.87932	D	0	-13.5525	7.5385	0.27725	0.0:0.674:0.0:0.326	.	1468	Q9NRD9	DUOX1_HUMAN	M	1468	ENSP00000317997:L1468M;ENSP00000373689:L1468M	ENSP00000317997:L1468M	L	+	1	2	DUOX1	43243175	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	2.069000	0.41481	0.474000	0.27392	0.491000	0.48974	CTG	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416251.1		+	ENST00000321429.4	Missense_Mutation	SNP	15 : 45455883 - 45455883 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	496	95
PPIL1	51645	broad.mit.edu	37	6	36824411	36824411	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36824411G>A	ENST00000373699.5	-	3	482	c.231C>T	c.(229-231)atC>atT	p.I77I	PPIL1_ENST00000483552.1_5'UTR	NM_016059.4	NP_057143.1	Q9Y3C6	PPIL1_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 1	77	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			lung(1)|ovary(1)	2						GTTTGCCATAGATAGATGCAC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	107	112			NA	NA	6		NA											NA				36824411		2203	4300	6503	SO:0001819	synonymous_variant			AF090992	CCDS4826.1	6p21.1	2008-08-29			ENSG00000137168	ENSG00000137168	51645	51645			9260	protein-coding gene	gene with protein product		601301			NA	10072585, 8978786	Standard		NM_016059	NA	Approved	CYPL1	uc003omu.2	Q9Y3C6	OTTHUMG00000014612	ENST00000373699.5:c.231C>T	6.37:g.36824411G>A		NA	O15001|Q5TDC9	37	CCDS4826.1																																																																																			PPIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040382.1		-	ENST00000373699.5	Silent	SNP	6 : 36824411 - 36824411 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	38
ZSCAN16	80345	broad.mit.edu	37	6	28093345	28093345	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28093345C>T	ENST00000340487.4	+	2	273	c.124C>T	c.(124-126)Caa>Taa	p.Q42*	ZSCAN16-AS1_ENST00000600652.1_RNA|ZSCAN16-AS1_ENST00000602810.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	42	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						ACTCTATAGACAACACTTCAG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													218	222	221			NA	NA	6		NA											NA				28093345		2203	4300	6503	SO:0001587	stop_gained			AK025844	CCDS4644.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000196812	ENSG00000196812	80345	80345		-, Zinc fingers, C2H2-type	20813	protein-coding gene	gene with protein product			zinc finger protein 392, zinc finger protein 435	ZNF392, ZNF435	NA		Standard	NM_025231	NM_025231	NA	Approved	FLJ22191, dJ265C24.3	uc003nkm.3	Q9H4T2	OTTHUMG00000014509	ENST00000340487.4:c.124C>T	6.37:g.28093345C>T	ENSP00000366527:p.Gln42*	NA	Q9H6K2	37	CCDS4644.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550547	0.45383	.	.	ENSG00000196812	ENST00000340487	.	.	.	3.66	2.75	0.32379	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	9.7442	0.40437	0.3728:0.6272:0.0:0.0	.	.	.	.	X	42	.	ENSP00000366527:Q42X	Q	+	1	0	ZSCAN16	28201324	0.006000	0.16342	0.212000	0.23672	0.281000	0.26958	1.399000	0.34566	0.828000	0.34709	0.557000	0.71058	CAA	ZSCAN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040177.1		+	ENST00000340487.4	Nonsense_Mutation	SNP	6 : 28093345 - 28093345 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1574	247
HELZ2	85441	broad.mit.edu	37	20	62193938	62193938	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62193938C>T	ENST00000467148.1	-	8	6306	c.6237G>A	c.(6235-6237)ccG>ccA	p.P2079P	HELZ2_ENST00000427522.2_Silent_p.P1510P	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator	NA											NA						GCACCTCTTCCGGAACCTTCT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001819	synonymous_variant			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589	85441	85441			30021	protein-coding gene	gene with protein product	peroxisomal proliferator activated receptor A interacting complex 285, PPARG-DBD-interacting protein 1	611265			NA	11214970, 12189208, 16239304	Standard	NM_001037335	NM_001037335	NA	Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.6237G>A	20.37:g.62193938C>T		NA		37	CCDS33508.1																																																																																			HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354127.1		-	ENST00000467148.1	Silent	SNP	20 : 62193938 - 62193938 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	71	10
TLR4	7099	broad.mit.edu	37	9	120475182	120475182	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:120475182T>C	ENST00000355622.6	+	3	877	c.776T>C	c.(775-777)gTt>gCt	p.V259A	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.V219A	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	259					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CATCGTTTGGTTCTGGGAGAA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	84	81			NA	NA	9		NA											NA				120475182		2203	4300	6503	SO:0001583	missense			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869	7099	7099		CD molecules	11850	protein-coding gene	gene with protein product		603030			NA	9435236, 9237759	Standard	NM_138554	NM_138554	NA	Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.776T>C	9.37:g.120475182T>C	ENSP00000363089:p.Val259Ala	NA	A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	37	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	T	12.53	1.965554	0.34659	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.37235	1.47;1.21	5.57	5.57	0.84162	.	0.285150	0.30285	N	0.009963	T	0.40145	0.1105	M	0.72118	2.19	0.09310	N	1	B	0.32893	0.389	B	0.31390	0.129	T	0.46428	-0.9192	10	0.72032	D	0.01	.	14.2982	0.66329	0.0:0.0:0.0:1.0	.	259	O00206	TLR4_HUMAN	A	219;259	ENSP00000377997:V219A;ENSP00000363089:V259A	ENSP00000363089:V259A	V	+	2	0	TLR4	119515003	0.999000	0.42202	0.527000	0.27925	0.514000	0.34195	4.087000	0.57671	2.120000	0.65058	0.533000	0.62120	GTT	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055549.3		+	ENST00000355622.6	Missense_Mutation	SNP	9 : 120475182 - 120475182 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	628	19
GIPC3	126326	broad.mit.edu	37	19	3586949	3586949	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3586949C>T	ENST00000322315.5	+	3	594	c.549C>T	c.(547-549)tcC>tcT	p.S183S		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	183	PDZ.							p.Q184E(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCCAAGTCCCAGCCCTTCA	0.657		NA									OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											35	34	34			NA	NA	19		NA											NA				3586949		2202	4299	6501	SO:0001819	synonymous_variant			AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855	126326	126326			18183	protein-coding gene	gene with protein product		608792	chromosome 19 open reading frame 64, deafness, autosomal recessive 72, deafness, autosomal recessive 15	C19orf64, DFNB72, DFNB15	NA	11836571, 21326233	Standard	NM_133261	NM_133261	NA	Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.549C>T	19.37:g.3586949C>T		612	O75227	37	CCDS32871.1																																																																																			GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394577.1		+	ENST00000322315.5	Silent	SNP	19 : 3586949 - 3586949 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	196	39
RBM26	64062	broad.mit.edu	37	13	79952975	79952975	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:79952975T>C	ENST00000438737.2	-	2	579	c.139A>G	c.(139-141)Aaa>Gaa	p.K47E	RBM26_ENST00000438724.1_Missense_Mutation_p.K47E|RBM26_ENST00000267229.7_Missense_Mutation_p.K47E			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	47					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TTTAACTCTTTTTCACTTTTG	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	87	91			NA	NA	13		NA											NA				79952975		2203	4300	6503	SO:0001583	missense			AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746	64062	64062		Zinc fingers, CCCH-type domain containing, RNA binding motif (RRM) containing	20327	protein-coding gene	gene with protein product	acidic rich RS domain containing 2, protein phosphatase 1, regulatory 132		chromosome 13 open reading frame 10	C13orf10	NA	11149944, 15741184	Standard	NM_022118	XM_005266497	NA	Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.139A>G	13.37:g.79952975T>C	ENSP00000387531:p.Lys47Glu	NA	B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	37		.	.	.	.	.	.	.	.	.	.	T	15.72	2.916933	0.52546	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	T;T	0.41758	0.99;0.99	5.78	5.78	0.91487	Splicing factor PWI (2);	0.053396	0.64402	D	0.000001	T	0.29882	0.0747	N	0.11818	0.18	0.58432	D	0.999999	B;P;P;P	0.45348	0.065;0.827;0.856;0.827	B;B;P;B	0.45753	0.053;0.359;0.492;0.359	T	0.07947	-1.0746	9	.	.	.	-19.0217	12.0245	0.53362	0.0:0.0:0.144:0.856	.	47;47;47;47	Q5T8P6-6;Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;.;RBM26_HUMAN;.	E	47;48;47;47	ENSP00000267229:K47E;ENSP00000390222:K47E	.	K	-	1	0	RBM26	78850976	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.193000	0.72075	2.214000	0.71695	0.528000	0.53228	AAA	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000045373.4		-	ENST00000438737.2	Missense_Mutation	SNP	13 : 79952975 - 79952975 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	177	39
TAF1A	9015	broad.mit.edu	37	1	222732018	222732018	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:222732018A>G	ENST00000352967.4	-	11	1525	c.1337T>C	c.(1336-1338)gTa>gCa	p.V446A	TAF1A_ENST00000350027.4_Missense_Mutation_p.V446A|TAF1A_ENST00000366890.1_Missense_Mutation_p.V332A|TAF1A_ENST00000391882.1_Missense_Mutation_p.V332A	NM_005681.3	NP_005672.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	446					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		TCTTGGATTTACAATACTGTA	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	74	73			NA	NA	1		NA											NA				222732018		2201	4280	6481	SO:0001583	missense			L39060	CCDS1531.1, CCDS1532.1	1q42	2008-02-05	2002-08-29		ENSG00000143498	ENSG00000143498	9015	9015			11532	protein-coding gene	gene with protein product		604903	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD		NA	7801123	Standard	NM_005681	NM_005681	NA	Approved	TAFI48, SL1	uc009xdz.2	Q15573	OTTHUMG00000037544	ENST00000352967.4:c.1337T>C	1.37:g.222732018A>G	ENSP00000327072:p.Val446Ala	NA	B2RDZ8|D3DTB7|Q9NWA1	37	CCDS1531.1	.	.	.	.	.	.	.	.	.	.	A	7.948	0.744260	0.15710	.	.	ENSG00000143498	ENST00000366890;ENST00000350027;ENST00000352967;ENST00000391882	T;T	0.56444	0.46;0.46	5.34	3.01	0.34805	.	0.556195	0.17612	N	0.168045	T	0.40067	0.1102	L	0.41824	1.3	0.54753	D	0.999988	B	0.10296	0.003	B	0.11329	0.006	T	0.13872	-1.0493	10	0.35671	T	0.21	-3.4905	7.0501	0.25069	0.8182:0.0:0.1818:0.0	.	446	Q15573	TAF1A_HUMAN	A	332;446;446;332	ENSP00000339976:V446A;ENSP00000327072:V446A	ENSP00000339976:V446A	V	-	2	0	TAF1A	220798641	0.997000	0.39634	0.602000	0.28890	0.033000	0.12548	1.436000	0.34980	0.426000	0.26116	0.533000	0.62120	GTA	TAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091493.2		-	ENST00000352967.4	Missense_Mutation	SNP	1 : 222732018 - 222732018 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	40
JAKMIP3	282973	broad.mit.edu	37	10	133955529	133955529	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:133955529C>T	ENST00000298622.4	+	10	1717	c.1579C>T	c.(1579-1581)Ctg>Ttg	p.L527L		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3	NA										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TGGAGGGACGCTGGACGCAGA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	73	86			NA	NA	10		NA											NA				133955529		2202	4297	6499	SO:0001819	synonymous_variant			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385	282973	282973			23523	protein-coding gene	gene with protein product	neuroendocrine long coiled-coil 2	611198	chromosome 10 open reading frame 39, chromosome 10 open reading frame 14	C10orf39, C10orf14	NA	15277531, 17572408	Standard	NM_194303	NM_001105521	NA	Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.1579C>T	10.37:g.133955529C>T		NA		37	CCDS44494.1																																																																																			JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051049.3		+	ENST00000298622.4	Silent	SNP	10 : 133955529 - 133955529 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	57	8
FBXO36	130888	broad.mit.edu	37	2	230875544	230875544	+	Missense_Mutation	SNP	C	C	T	rs139190280		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:230875544C>T	ENST00000373652.3	+	5	839	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	FBXO36_ENST00000409992.1_Missense_Mutation_p.R151W|FBXO36_ENST00000283946.3_Missense_Mutation_p.R171W			Q8NEA4	FBX36_HUMAN	F-box protein 36	171										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		CCAGCTCCAGCGGCAGCTCCG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TRP/ARG	0,4406		0,0,2203	36	35	35		511	4	1	2	dbSNP_134	35	2,8598	2.2+/-6.3	0,2,4298	no	missense	FBXO36	NM_174899.4	101	0,2,6501	TT,TC,CC	NA	0.0233,0.0,0.0154	probably-damaging	171/189	230875544	2,13004	2203	4300	6503	SO:0001583	missense			BC033935	CCDS2472.1	2q37.1	2008-02-05	2004-06-15		ENSG00000153832	ENSG00000153832	130888	130888		F-boxes /  other	27020	protein-coding gene	gene with protein product		609105	F-box only protein 36		NA	12477932	Standard	NM_174899	NM_174899	NA	Approved	Fbx36, FLJ37592	uc002vqa.3	Q8NEA4	OTTHUMG00000133206	ENST00000373652.3:c.418C>T	2.37:g.230875544C>T	ENSP00000362756:p.Arg140Trp	NA	Q53TE6|Q8WWD4	37		.	.	.	.	.	.	.	.	.	.	C	18.53	3.644135	0.67244	0.0	2.33E-4	ENSG00000153832	ENST00000373652;ENST00000283946;ENST00000409992	T;T;T	0.22743	1.94;1.94;1.94	4.86	3.95	0.45737	F-box domain, Skp2-like (1);	0.622148	0.14637	N	0.307472	T	0.22085	0.0532	L	0.56769	1.78	0.34736	D	0.730262	D;D	0.69078	0.997;0.994	P;P	0.44477	0.451;0.451	T	0.31861	-0.9928	10	0.40728	T	0.16	-6.2447	6.8825	0.24181	0.1827:0.7261:0.0:0.0912	.	140;171	B3KVQ6;Q8NEA4	.;FBX36_HUMAN	W	140;171;151	ENSP00000362756:R140W;ENSP00000283946:R171W;ENSP00000386673:R151W	ENSP00000283946:R171W	R	+	1	2	FBXO36	230583788	1.000000	0.71417	0.999000	0.59377	0.895000	0.52256	0.779000	0.26746	0.964000	0.38108	0.511000	0.50034	CGG	FBXO36-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000331831.1		+	ENST00000373652.3	Missense_Mutation	SNP	2 : 230875544 - 230875544 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	173	15
ZNF34	80778	broad.mit.edu	37	8	145999156	145999156	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145999156C>T	ENST00000429371.2	-	6	1268	c.1115G>A	c.(1114-1116)tGc>tAc	p.C372Y	ZNF34_ENST00000343459.4_Missense_Mutation_p.C393Y	NM_030580.3	NP_085057.3	Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		ACATTCCTTGCACTCAAATGG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	51	49			NA	NA	8		NA											NA				145999156		2184	4298	6482	SO:0001583	missense			BC028136	CCDS47945.1, CCDS69562.1	8q24	2013-01-08	2006-05-11				80778	80778		Zinc fingers, C2H2-type, -	13098	protein-coding gene	gene with protein product		194526	zinc finger protein 34 (KOX 32)		NA	8104631, 2014798	Standard	NM_030580	XM_005272349	NA	Approved	KOX32	uc003zdy.4	Q8IZ26		ENST00000429371.2:c.1115G>A	8.37:g.145999156C>T	ENSP00000396894:p.Cys372Tyr	NA	D3DWN1|Q9BSZ0	37		.	.	.	.	.	.	.	.	.	.	C	18.38	3.610860	0.66558	.	.	ENSG00000196378	ENST00000449516;ENST00000527190;ENST00000343459;ENST00000429371	D;D	0.85088	-1.94;-1.94	3.73	3.73	0.42828	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35013	N	0.003504	D	0.94305	0.8170	H	0.95328	3.655	0.36271	D	0.855171	D;D	0.89917	1.0;1.0	D;D	0.80764	0.991;0.994	D	0.97739	1.0207	10	0.87932	D	0	.	15.4547	0.75302	0.0:1.0:0.0:0.0	.	352;393	E7EN25;Q8IZ26	.;ZNF34_HUMAN	Y	352;322;393;372	ENSP00000341528:C393Y;ENSP00000396894:C372Y	ENSP00000341528:C393Y	C	-	2	0	ZNF34	145969960	0.997000	0.39634	0.999000	0.59377	0.940000	0.58332	5.107000	0.64603	2.351000	0.79841	0.561000	0.74099	TGC	ZNF34-002	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000382937.1		-	ENST00000429371.2	Missense_Mutation	SNP	8 : 145999156 - 145999156 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	164	44
ARHGEF19	128272	broad.mit.edu	37	1	16531318	16531318	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16531318G>T	ENST00000270747.3	-	12	1979	c.1843C>A	c.(1843-1845)Ctg>Atg	p.L615M	ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	615	PH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		TTGCTGGACAGCTTCAGCTTG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	34	35			NA	NA	1		NA											NA				16531318		2203	4300	6503	SO:0001583	missense			BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632	128272	128272		Rho guanine nucleotide exchange factors	26604	protein-coding gene	gene with protein product		612496			NA	12477932	Standard	NM_153213	NM_153213	NA	Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.1843C>A	1.37:g.16531318G>T	ENSP00000270747:p.Leu615Met	NA	A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	37	CCDS170.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.72|12.72	2.022609|2.022609	0.35701|0.35701	.|.	.|.	ENSG00000142632|ENSG00000142632	ENST00000270747|ENST00000449495	T|.	0.71817|.	-0.6|.	4.41|4.41	4.41|4.41	0.53225|0.53225	Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.	0.112646|.	0.40144|.	N|.	0.001174|.	T|T	0.56171|0.56171	0.1967|0.1967	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.70935|.	0.971|.	T|T	0.52653|0.52653	-0.8547|-0.8547	10|5	0.38643|.	T|.	0.18|.	.|.	9.705|9.705	0.40209|0.40209	0.0:0.0:0.7929:0.2071|0.0:0.0:0.7929:0.2071	.|.	615|.	Q8IW93|.	ARHGJ_HUMAN|.	M|R	615|303	ENSP00000270747:L615M|.	ENSP00000270747:L615M|.	L|S	-|-	1|3	2|2	ARHGEF19|ARHGEF19	16403905|16403905	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.105000|2.105000	0.41825|0.41825	2.272000|2.272000	0.75746|0.75746	0.561000|0.561000	0.74099|0.74099	CTG|AGC	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006289.1		-	ENST00000270747.3	Missense_Mutation	SNP	1 : 16531318 - 16531318 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	89	20
SLC13A3	64849	broad.mit.edu	37	20	45192140	45192140	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45192140G>A	ENST00000279027.4	-	12	1563	c.1545C>T	c.(1543-1545)gtC>gtT	p.V515V	SLC13A3_ENST00000396360.1_Silent_p.V433V|SLC13A3_ENST00000495082.1_Silent_p.V468V|SLC13A3_ENST00000290317.5_Silent_p.V468V|SLC13A3_ENST00000435032.1_Silent_p.V100V|SLC13A3_ENST00000413164.2_Silent_p.V465V|SLC13A3_ENST00000472148.1_Silent_p.V433V	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	515						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	AGGAGCAGCCGACTGTGCCCG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	42	44			NA	NA	20		NA											NA				45192140		2203	4300	6503	SO:0001819	synonymous_variant			AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296	64849	64849		Solute carriers	14430	protein-coding gene	gene with protein product		606411			NA	10794676, 10992006	Standard		NM_001011554	NA	Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1545C>T	20.37:g.45192140G>A		NA	E1P5U4|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	37	CCDS13400.1																																																																																			SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080329.2		-	ENST00000279027.4	Silent	SNP	20 : 45192140 - 45192140 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	186	40
EIF2D	1939	broad.mit.edu	37	1	206773132	206773132	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206773132C>A	ENST00000271764.2	-	9	1215	c.1007G>T	c.(1006-1008)aGc>aTc	p.S336I	EIF2D_ENST00000367114.3_Missense_Mutation_p.S212I	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	336					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						CACCCCTTTGCTCAGCTCCTT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	127	136			NA	NA	1		NA											NA				206773132		2203	4300	6503	SO:0001583	missense			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.1007G>T	1.37:g.206773132C>A	ENSP00000271764:p.Ser336Ile	NA	Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	37	CCDS1465.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.572557	0.45798	.	.	ENSG00000143486	ENST00000367114;ENST00000271764	T;T	0.47869	0.83;0.9	5.75	4.85	0.62838	.	0.206543	0.64402	D	0.000017	T	0.55097	0.1899	M	0.67397	2.05	0.46061	D	0.998846	P;P	0.45715	0.741;0.865	B;P	0.50617	0.372;0.646	T	0.58399	-0.7643	10	0.62326	D	0.03	-4.8102	9.6372	0.39817	0.0:0.8415:0.0:0.1585	.	212;336	P41214-2;P41214	.;EIF2D_HUMAN	I	212;336	ENSP00000356081:S212I;ENSP00000271764:S336I	ENSP00000271764:S336I	S	-	2	0	EIF2D	204839755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.124000	0.31320	1.437000	0.47472	0.563000	0.77884	AGC	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088475.1		-	ENST00000271764.2	Missense_Mutation	SNP	1 : 206773132 - 206773132 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	660	119
NCAM2	4685	broad.mit.edu	37	21	22804437	22804437	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22804437C>T	ENST00000400546.1	+	12	1739	c.1490C>T	c.(1489-1491)tCc>tTc	p.S497F	NCAM2_ENST00000284894.7_Missense_Mutation_p.S355F	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	497	Fibronectin type-III 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GACGTGCCATCCAGTCCCTAT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	59	60			NA	NA	21		NA											NA				22804437		1924	4136	6060	SO:0001583	missense				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654	4685	4685		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	7657	protein-coding gene	gene with protein product		602040			NA	9226371	Standard	NM_004540	NM_004540	NA	Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1490C>T	21.37:g.22804437C>T	ENSP00000383392:p.Ser497Phe	NA	A8MQ06|Q7Z7F2	37	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959169	0.74016	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.58797	0.31;0.31	5.03	5.03	0.67393	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80607	0.4655	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.85261	0.1050	10	0.87932	D	0	-10.8145	16.9239	0.86170	0.0:1.0:0.0:0.0	.	355;497	B7Z5K2;O15394	.;NCAM2_HUMAN	F	497;355	ENSP00000383392:S497F;ENSP00000284894:S355F	ENSP00000284894:S355F	S	+	2	0	NCAM2	21726308	1.000000	0.71417	0.998000	0.56505	0.846000	0.48090	6.249000	0.72427	2.328000	0.79073	0.505000	0.49811	TCC	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000170915.1		+	ENST00000400546.1	Missense_Mutation	SNP	21 : 22804437 - 22804437 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	36
OSBPL3	26031	broad.mit.edu	37	7	24888729	24888729	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24888729C>T	ENST00000313367.2	-	12	1676	c.1225G>A	c.(1225-1227)Gac>Aac	p.D409N	OSBPL3_ENST00000352860.1_Missense_Mutation_p.D378N|OSBPL3_ENST00000396429.1_Intron|OSBPL3_ENST00000431825.2_Intron|OSBPL3_ENST00000409069.1_Intron|OSBPL3_ENST00000353930.1_Intron|OSBPL3_ENST00000396431.1_Missense_Mutation_p.D378N	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	409					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GCGGGGGAGTCGAGGAGCAGA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													212	196	202			NA	NA	7		NA											NA				24888729		2203	4300	6503	SO:0001583	missense			AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882	26031	26031		Oxysterol binding proteins, Pleckstrin homology (PH) domain containing	16370	protein-coding gene	gene with protein product		606732		OSBP3	NA	9734811	Standard		XM_005249698	NA	Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.1225G>A	7.37:g.24888729C>T	ENSP00000315410:p.Asp409Asn	NA	A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	37	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668299	0.88348	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000396431	T;T;T	0.51325	2.04;0.71;0.71	5.69	5.69	0.88448	.	0.195094	0.53938	D	0.000045	T	0.48409	0.1498	M	0.72118	2.19	0.80722	D	1	B;P	0.34724	0.382;0.465	B;B	0.26969	0.07;0.075	T	0.53570	-0.8420	10	0.59425	D	0.04	-13.7122	18.0068	0.89212	0.0:1.0:0.0:0.0	.	378;409	Q9H4L5-2;Q9H4L5	.;OSBL3_HUMAN	N	409;378;378	ENSP00000315410:D409N;ENSP00000315331:D378N;ENSP00000379708:D378N	ENSP00000315410:D409N	D	-	1	0	OSBPL3	24855254	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.073000	0.71245	2.676000	0.91093	0.655000	0.94253	GAC	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214085.2		-	ENST00000313367.2	Missense_Mutation	SNP	7 : 24888729 - 24888729 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	799	96
CIT	11113	broad.mit.edu	37	12	120168356	120168356	+	Missense_Mutation	SNP	C	C	T	rs146605071		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120168356C>T	ENST00000392521.2	-	27	3485	c.3430G>A	c.(3430-3432)Gct>Act	p.A1144T	CIT_ENST00000261833.7_Missense_Mutation_p.A1102T|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1102	Interaction with Rho/Rac.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGCTGCAGAGCGAGAATCTCA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	57	52	54		3430,3304	5.4	0.7	12	dbSNP_134	54	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CIT	NM_001206999.1,NM_007174.2	58,58	0,3,6500	TT,TC,CC	NA	0.0116,0.0454,0.0231	possibly-damaging,possibly-damaging	1144/2070,1102/2028	120168356	3,13003	2203	4300	6503	SO:0001583	missense			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966	11113	11113			1985	protein-coding gene	gene with protein product	serine/threonine kinase 21	605629	citron (rho-interacting, serine/threonine kinase 21)		NA	9792683	Standard	NM_007174	NM_001206999	NA	Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000392521.2:c.3430G>A	12.37:g.120168356C>T	ENSP00000376306:p.Ala1144Thr	NA	Q6XUH8|Q86UQ9|Q9UPZ7	37	CCDS55891.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437072	0.62955	4.54E-4	1.16E-4	ENSG00000122966	ENST00000392521;ENST00000261833;ENST00000546026	T;T;T	0.65549	-0.1;-0.16;1.56	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.51517	0.1679	N	0.24115	0.695	0.58432	D	0.999999	D;D;P	0.63046	0.992;0.983;0.494	B;B;B	0.42882	0.401;0.204;0.056	T	0.49835	-0.8897	10	0.25106	T	0.35	.	19.3079	0.94171	0.0:1.0:0.0:0.0	.	1144;1102;635	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	T	1144;1102;144	ENSP00000376306:A1144T;ENSP00000261833:A1102T;ENSP00000446105:A144T	ENSP00000261833:A1102T	A	-	1	0	CIT	118652739	1.000000	0.71417	0.675000	0.29917	0.574000	0.36063	6.026000	0.70873	2.550000	0.86006	0.655000	0.94253	GCT	CIT-005	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401847.1		-	ENST00000392521.2	Missense_Mutation	SNP	12 : 120168356 - 120168356 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	212	45
PPIG	9360	broad.mit.edu	37	2	170493870	170493870	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170493870T>C	ENST00000260970.3	+	14	2322	c.2102T>C	c.(2101-2103)tTa>tCa	p.L701S	PPIG_ENST00000448752.2_Missense_Mutation_p.L701S|PPIG_ENST00000409714.3_Missense_Mutation_p.L686S	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	701					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	GACAATGAATTAAAGTCCTCC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	40	40			NA	NA	2		NA											NA				170493870		2202	4297	6499	SO:0001583	missense			X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	9360	9360	6.1.1.16		14650	protein-coding gene	gene with protein product	SR-related CTD-associated factor 10	606093	peptidyl-prolyl isomerase G (cyclophilin G)		NA	8973360, 9153302	Standard		NM_004792	NA	Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.2102T>C	2.37:g.170493870T>C	ENSP00000260970:p.Leu701Ser	NA	D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	37	CCDS2235.1	.	.	.	.	.	.	.	.	.	.	T	7.578	0.668229	0.14776	.	.	ENSG00000138398	ENST00000260970;ENST00000409714;ENST00000448752	T;T;T	0.15718	2.4;2.4;2.4	5.63	4.49	0.54785	.	0.469985	0.18759	N	0.131954	T	0.09598	0.0236	N	0.04508	-0.205	0.22610	N	0.998939	B;D;B	0.54964	0.0;0.969;0.0	B;P;B	0.50352	0.0;0.638;0.0	T	0.15178	-1.0446	10	0.23302	T	0.38	-0.3466	4.3681	0.11233	0.161:0.1378:0.0:0.7013	.	686;686;701	E9PG73;Q2NKQ6;Q13427	.;.;PPIG_HUMAN	S	701;686;701	ENSP00000260970:L701S;ENSP00000386245:L686S;ENSP00000407083:L701S	ENSP00000260970:L701S	L	+	2	0	PPIG	170202116	0.997000	0.39634	0.999000	0.59377	0.788000	0.44548	1.770000	0.38532	2.152000	0.67230	0.482000	0.46254	TTA	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255264.2		+	ENST00000260970.3	Missense_Mutation	SNP	2 : 170493870 - 170493870 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	235	36
RIC8B	55188	broad.mit.edu	37	12	107208523	107208523	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107208523C>T	ENST00000392837.4	+	3	333	c.182C>T	c.(181-183)aCa>aTa	p.T61I	RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000355478.2_Missense_Mutation_p.T21I|RIC8B_ENST00000392839.2_Missense_Mutation_p.T61I			Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	61					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						ATCCCAACAACATGTCAAGTG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	88	89			NA	NA	12		NA											NA				107208523		2203	4300	6503	SO:0001583	missense			AK128102	CCDS9109.2	12q23.3	2013-08-05	2013-08-05		ENSG00000111785	ENSG00000111785	55188	55188			25555	protein-coding gene	gene with protein product		609147	resistance to inhibitors of cholinesterase 8 homolog B (C. elegans)		NA		Standard	NM_018157	XM_005268998	NA	Approved	FLJ10620, hSyn, RIC8	uc001tlx.3	Q9NVN3	OTTHUMG00000144188	ENST00000392837.4:c.182C>T	12.37:g.107208523C>T	ENSP00000376582:p.Thr61Ile	NA	A2RTZ0|Q4G103|Q6ZRN4|Q86WD3	37		.	.	.	.	.	.	.	.	.	.	C	12.98	2.100814	0.37048	.	.	ENSG00000111785	ENST00000392837;ENST00000392839;ENST00000355478;ENST00000552619	T;T;T;T	0.66460	0.94;0.94;0.94;-0.21	5.36	5.36	0.76844	Armadillo-type fold (1);	0.455332	0.26352	N	0.024867	T	0.51210	0.1661	N	0.08118	0	0.80722	D	1	B;B;B	0.20988	0.05;0.029;0.037	B;B;B	0.18871	0.023;0.016;0.014	T	0.50101	-0.8867	10	0.59425	D	0.04	-5.3945	19.457	0.94897	0.0:1.0:0.0:0.0	.	21;61;61	Q9NVN3-3;Q9NVN3;B7WPL0	.;RIC8B_HUMAN;.	I	61;61;21;45	ENSP00000376582:T61I;ENSP00000376583:T61I;ENSP00000347662:T21I;ENSP00000448743:T45I	ENSP00000347662:T21I	T	+	2	0	RIC8B	105732653	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.317000	0.65822	2.676000	0.91093	0.655000	0.94253	ACA	RIC8B-001	KNOWN	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000291393.3		+	ENST00000392837.4	Missense_Mutation	SNP	12 : 107208523 - 107208523 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	455	88
KIAA0100	9703	broad.mit.edu	37	17	26964865	26964865	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26964865G>T	ENST00000528896.2	-	14	1834	c.1760C>A	c.(1759-1761)tCt>tAt	p.S587Y	KIAA0100_ENST00000389003.3_Missense_Mutation_p.S444Y|KIAA0100_ENST00000544884.1_Missense_Mutation_p.S444Y	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	587						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AACCAAGGCAGAAAGGGTAAA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	92	98			NA	NA	17		NA											NA				26964865		2203	4300	6503	SO:0001583	missense			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202	9703	9703			28960	protein-coding gene	gene with protein product	cancer/testis antigen 101, breast cancer overexpressed gene 1	610664			NA	16289875	Standard	NM_014680	NM_014680	NA	Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.1760C>A	17.37:g.26964865G>T	ENSP00000436773:p.Ser587Tyr	NA	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	37	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063874	0.76187	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.27104	1.7;1.69	5.76	5.76	0.90799	FMP27, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.44180	0.1281	L	0.32530	0.975	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	T	0.31138	-0.9954	10	0.72032	D	0.01	.	19.9772	0.97314	0.0:0.0:1.0:0.0	.	587	Q14667	K0100_HUMAN	Y	587;587;587;444	ENSP00000436773:S587Y;ENSP00000446443:S444Y	ENSP00000005905:S587Y	S	-	2	0	KIAA0100	23988992	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	6.423000	0.73361	2.724000	0.93272	0.563000	0.77884	TCT	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390571.3		-	ENST00000528896.2	Missense_Mutation	SNP	17 : 26964865 - 26964865 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	415	78
ATXN2L	11273	broad.mit.edu	37	16	28841994	28841994	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28841994C>T	ENST00000564304.1	+	9	1258	c.1093C>T	c.(1093-1095)Cga>Tga	p.R365*	ATXN2L_ENST00000395547.2_Nonsense_Mutation_p.R365*|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000382686.4_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000570200.1_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000336783.4_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000340394.8_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000325215.6_Nonsense_Mutation_p.R365*			Q8WWM7	ATX2L_HUMAN	ataxin 2-like	365						membrane		p.R365*(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GGGAGGAGTTCGATGCAGCAG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Nonsense(2)	large_intestine(2)											43	43	43			NA	NA	16		NA											NA				28841994		2197	4300	6497	SO:0001587	stop_gained				CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488	11273	11273			31326	protein-coding gene	gene with protein product		607931			NA	11784712, 14769358	Standard	NM_007245	NM_007245	NA	Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000564304.1:c.1093C>T	16.37:g.28841994C>T	ENSP00000457613:p.Arg365*	NA	B9EGM2|O95135|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	37		.	.	.	.	.	.	.	.	.	.	.	38	6.843414	0.97881	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	.	.	.	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-8.4591	13.743	0.62860	0.154:0.8459:0.0:0.0	.	.	.	.	X	365	.	ENSP00000315650:R365X	R	+	1	2	ATXN2L	28749495	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.657000	0.46724	2.750000	0.94351	0.563000	0.77884	CGA	ATXN2L-008	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000432048.1		+	ENST00000564304.1	Nonsense_Mutation	SNP	16 : 28841994 - 28841994 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	68
ATP1A2	477	broad.mit.edu	37	1	160099109	160099109	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160099109C>A	ENST00000361216.3	+	11	1469	c.1380C>A	c.(1378-1380)ctC>ctA	p.L460L	ATP1A2_ENST00000392233.3_Silent_p.L460L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	460					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCATTGAGCTCTCCTGTGGCT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	159	160			NA	NA	1		NA											NA				160099109		2203	4300	6503	SO:0001819	synonymous_variant			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	477	477	3.6.3.9	ATPases / P-type	800	protein-coding gene	gene with protein product	sodium/potassium-transporting ATPase subunit alpha-2, sodium pump subunit alpha-2, sodium-potassium ATPase catalytic subunit alpha-2	182340	migraine, hemiplegic 2, ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide	MHP2	NA	9403481	Standard	NM_000702	NM_000702	NA	Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1380C>A	1.37:g.160099109C>A		NA	D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	37	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	C	9.190	1.025685	0.19512	.	.	ENSG00000018625	ENST00000447527	.	.	.	4.66	0.412	0.16397	.	.	.	.	.	T	0.39835	0.1093	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29181	-1.0020	4	.	.	.	.	7.7827	0.29074	0.154:0.2517:0.5943:0.0	.	.	.	.	Y	171	.	.	S	+	2	0	ATP1A2	158365733	0.997000	0.39634	1.000000	0.80357	0.984000	0.73092	0.305000	0.19254	0.133000	0.18654	-0.234000	0.12200	TCT	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060642.2		+	ENST00000361216.3	Silent	SNP	1 : 160099109 - 160099109 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1123	197
COL3A1	1281	broad.mit.edu	37	2	189862066	189862066	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189862066C>T	ENST00000304636.3	+	26	1990	c.1820C>T	c.(1819-1821)cCt>cTt	p.P607L	COL3A1_ENST00000317840.5_Missense_Mutation_p.P607L	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	607	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TTTTAGGGTCCTCCTGGAAAG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	105	104			NA	NA	2		NA											NA				189862066		2203	4300	6503	SO:0001583	missense			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542	1281	1281		Collagens	2201	protein-coding gene	gene with protein product		120180	Ehlers-Danlos syndrome type IV, autosomal dominant	EDS4A	NA	2780304, 2834369	Standard	NM_000090	NM_000090	NA	Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.1820C>T	2.37:g.189862066C>T	ENSP00000304408:p.Pro607Leu	NA	D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91	37	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	9.056	0.993368	0.19043	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.93659	-3.26;-3.26	6.03	4.98	0.66077	.	0.298232	0.23977	N	0.042719	D	0.87569	0.6210	L	0.35723	1.085	0.19300	N	0.999971	B	0.06786	0.001	B	0.15870	0.014	T	0.68625	-0.5359	10	0.07482	T	0.82	.	12.5333	0.56128	0.0:0.86:0.0:0.14	.	607	P02461	CO3A1_HUMAN	L	607	ENSP00000304408:P607L;ENSP00000315243:P607L	ENSP00000304408:P607L	P	+	2	0	COL3A1	189570311	0.001000	0.12720	0.999000	0.59377	0.440000	0.31957	0.303000	0.19210	2.868000	0.98415	0.555000	0.69702	CCT	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255899.3		+	ENST00000304636.3	Missense_Mutation	SNP	2 : 189862066 - 189862066 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	504	85
USE1	55850	broad.mit.edu	37	19	17327058	17327058	+	Silent	SNP	C	C	T	rs116643434	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17327058C>T	ENST00000595101.1	+	4	330	c.312C>T	c.(310-312)ccC>ccT	p.P104P	USE1_ENST00000263897.5_Silent_p.P104P|USE1_ENST00000445667.2_Silent_p.P104P|USE1_ENST00000596136.1_Silent_p.P104P|USE1_ENST00000379776.4_Silent_p.P104P			Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog (S. cerevisiae)	104					lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|endometrium(1)|lung(3)	6						AGCGAGTGCCCGCCACAAAGA	0.617		NA											C	10	0.0046	0.02	NA	2184	NA	0.9998	,	,	NA	3e-04	NA	NA	NA	0.0047	0.9766	LOWCOV,EXOME	NA	NA	0.0013	SNP								NA				0								C		82,3964		1,80,1942	45	50	48		312	-9.8	0.2	19	dbSNP_132	48	1,8365		0,1,4182	no	coding-synonymous	USE1	NM_018467.3		1,81,6124	TT,TC,CC	NA	0.012,2.0267,0.6687		104/260	17327058	83,12329	2023	4183	6206	SO:0001819	synonymous_variant			AF220052	CCDS46011.1	19p13.11	2007-08-20				ENSG00000053501	55850	55850			30882	protein-coding gene	gene with protein product	Q-SNARE, SNARE-like tail-anchored protein 1 homolog (S. cerevisiae)	610675			NA	16354670, 15029241	Standard	NM_018467	NM_018467	NA	Approved	p31, SLT1, MDS032	uc002nfo.2	Q9NZ43		ENST00000595101.1:c.312C>T	19.37:g.17327058C>T		NA	Q8NCK1|Q9BRT4	37																																																																																				USE1-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000463297.1		+	ENST00000595101.1	Silent	SNP	19 : 17327058 - 17327058 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	386	64
DNMT3B	1789	broad.mit.edu	37	20	31380565	31380565	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31380565A>C	ENST00000328111.2	+	9	1376	c.1055A>C	c.(1054-1056)aAc>aCc	p.N352T	DNMT3B_ENST00000344505.4_Missense_Mutation_p.N352T|DNMT3B_ENST00000348286.2_Missense_Mutation_p.N352T|DNMT3B_ENST00000456297.2_Missense_Mutation_p.N276T|DNMT3B_ENST00000201963.3_Missense_Mutation_p.N364T|DNMT3B_ENST00000443239.3_Missense_Mutation_p.N310T|DNMT3B_ENST00000353855.2_Missense_Mutation_p.N352T|DNMT3B_ENST00000375623.4_Intron	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	352					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAACCCAACAACACGCAACCA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	59	59			NA	NA	20		NA											NA				31380565		2203	4300	6503	SO:0001583	missense				CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305	1789	1789			2979	protein-coding gene	gene with protein product		602900			NA	9662389, 10433969	Standard	NM_006892	NM_006892	NA	Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1055A>C	20.37:g.31380565A>C	ENSP00000328547:p.Asn352Thr	NA	A2A2E2|E1P5M6|E1P5M7|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	37	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	A	12.16	1.855864	0.32791	.	.	ENSG00000088305	ENST00000328111;ENST00000537219;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	D;D;D;D;D;D;D	0.97161	-4.07;-4.27;-4.21;-4.19;-4.2;-4.09;-4.27	5.34	0.169	0.15017	.	0.310727	0.40144	N	0.001169	D	0.90800	0.7111	N	0.22421	0.69	0.80722	D	1	B;B;B;B;B;B;B	0.20052	0.0;0.001;0.041;0.001;0.002;0.001;0.002	B;B;B;B;B;B;B	0.17098	0.001;0.004;0.017;0.006;0.009;0.006;0.003	T	0.80783	-0.1228	10	0.39692	T	0.17	-22.1898	4.1248	0.10123	0.528:0.1768:0.2952:0.0	.	276;310;51;364;352;352;352	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	T	352;438;352;352;310;276;352;364	ENSP00000328547:N352T;ENSP00000313397:N352T;ENSP00000337764:N352T;ENSP00000403169:N310T;ENSP00000412305:N276T;ENSP00000345105:N352T;ENSP00000201963:N364T	ENSP00000201963:N364T	N	+	2	0	DNMT3B	30844226	0.562000	0.26586	1.000000	0.80357	0.974000	0.67602	0.794000	0.26958	0.114000	0.18032	0.459000	0.35465	AAC	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078643.2		+	ENST00000328111.2	Missense_Mutation	SNP	20 : 31380565 - 31380565 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	333	61
ZNF831	128611	broad.mit.edu	37	20	57766948	57766948	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57766948G>T	ENST00000371030.2	+	1	874	c.874G>T	c.(874-876)Gcg>Tcg	p.A292S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	292						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGGGCTCCCAGCGGCCAGCAC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	50	48			NA	NA	20		NA											NA				57766948		2001	4171	6172	SO:0001583	missense			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203	128611	128611			16167	protein-coding gene	gene with protein product			chromosome 20 open reading frame 174	C20orf174	NA		Standard	NM_178457	NM_178457	NA	Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.874G>T	20.37:g.57766948G>T	ENSP00000360069:p.Ala292Ser	NA	Q5TDR4|Q8TCP0	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.694301	0.00731	.	.	ENSG00000124203	ENST00000371030	T	0.04317	3.65	5.04	-0.658	0.11428	.	.	.	.	.	T	0.02727	0.0082	N	0.08118	0	0.09310	N	1	B	0.29716	0.255	B	0.23275	0.045	T	0.38672	-0.9650	9	0.08179	T	0.78	.	18.7329	0.91742	0.0:0.3924:0.6076:0.0	.	292	Q5JPB2	ZN831_HUMAN	S	292	ENSP00000360069:A292S	ENSP00000360069:A292S	A	+	1	0	ZNF831	57200343	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	-0.018000	0.12568	-0.352000	0.08237	-0.992000	0.02543	GCG	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079916.2		+	ENST00000371030.2	Missense_Mutation	SNP	20 : 57766948 - 57766948 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	678	122
GPR151	134391	broad.mit.edu	37	5	145895387	145895387	+	Missense_Mutation	SNP	G	G	A	rs145255868	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145895387G>A	ENST00000311104.2	-	1	366	c.290C>T	c.(289-291)aCg>aTg	p.T97M		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	97						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAGTACGCCGTAGCTCGGAT	0.502		NA											G	2	9e-04	0.0041	NA	2184	NA	1	,	,	NA	5e-04	NA	NA	NA	9e-04	0.9768	LOWCOV,EXOME	NA	NA	2e-04	SNP	Pancreas(78;420 1386 18535 37114 49710)							NA				0								G	MET/THR	8,4398	15.5+/-35.6	0,8,2195	124	122	122		290	3.1	0.8	5	dbSNP_134	122	0,8600		0,0,4300	yes	missense	GPR151	NM_194251.2	81	0,8,6495	AA,AG,GG	NA	0.0,0.1816,0.0615	possibly-damaging	97/420	145895387	8,12998	2203	4300	6503	SO:0001583	missense			AY255557	CCDS34266.1	5q32	2012-08-21					134391	134391		GPCR / Class A : Orphans	23624	protein-coding gene	gene with protein product	galanin receptor 4				NA	12679517	Standard	NM_194251	NM_194251	NA	Approved	PGR7, GALR4	uc003lod.1	Q8TDV0		ENST00000311104.2:c.290C>T	5.37:g.145895387G>A	ENSP00000308733:p.Thr97Met	NA	Q86SN8|Q8NGV2	37	CCDS34266.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	11.28	1.592329	0.28357	0.001816	0.0	ENSG00000173250	ENST00000311104	T	0.72835	-0.69	5.88	3.07	0.35406	GPCR, rhodopsin-like superfamily (1);	0.173248	0.49305	D	0.000160	T	0.63414	0.2509	L	0.43152	1.355	0.28914	N	0.892557	P	0.48694	0.914	P	0.44732	0.459	T	0.60342	-0.7282	10	0.56958	D	0.05	.	9.0746	0.36513	0.2537:0.0:0.7463:0.0	.	97	Q8TDV0	GP151_HUMAN	M	97	ENSP00000308733:T97M	ENSP00000308733:T97M	T	-	2	0	GPR151	145875580	0.989000	0.36119	0.829000	0.32907	0.275000	0.26752	2.436000	0.44819	0.349000	0.23975	-0.140000	0.14226	ACG	GPR151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373457.1		-	ENST00000311104.2	Missense_Mutation	SNP	5 : 145895387 - 145895387 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	392	77
C6orf15	29113	broad.mit.edu	37	6	31079554	31079554	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31079554G>A	ENST00000259870.3	-	2	585	c.582C>T	c.(580-582)cgC>cgT	p.R194R		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	194										endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						ACCAGGGAGGGCGTTGGGAAA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	33	33			NA	NA	6		NA											NA				31079554		1747	3386	5133	SO:0001819	synonymous_variant			AB031481	CCDS4693.1	6p21	2011-12-12			ENSG00000204542	ENSG00000204542	29113	29113			13927	protein-coding gene	gene with protein product		611401			NA		Standard	NM_014070	NM_014070	NA	Approved	STG	uc003nsk.1	Q6UXA7	OTTHUMG00000031111	ENST00000259870.3:c.582C>T	6.37:g.31079554G>A		NA	B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	37	CCDS4693.1																																																																																			C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076184.2		-	ENST00000259870.3	Silent	SNP	6 : 31079554 - 31079554 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	304	63
EPC2	26122	broad.mit.edu	37	2	149528914	149528914	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149528914G>A	ENST00000258484.6	+	10	1712	c.1678G>A	c.(1678-1680)Gca>Aca	p.A560T		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	560					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		AGTTTCTGCAGCATCTGTAGC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	125	126			NA	NA	2		NA											NA				149528914		1881	4100	5981	SO:0001583	missense			AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999	26122	26122			24543	protein-coding gene	gene with protein product		611000			NA		Standard	NM_015630	NM_015630	NA	Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.1678G>A	2.37:g.149528914G>A	ENSP00000258484:p.Ala560Thr	NA	B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	37	CCDS46422.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.191585	0.38707	.	.	ENSG00000135999	ENST00000258484	T	0.20598	2.06	5.34	5.34	0.76211	.	0.125508	0.52532	D	0.000061	T	0.10766	0.0263	N	0.03608	-0.345	0.80722	D	1	B	0.20780	0.048	B	0.21708	0.036	T	0.21143	-1.0254	10	0.30854	T	0.27	-4.3089	14.1134	0.65137	0.0:0.1499:0.8501:0.0	.	560	Q52LR7	EPC2_HUMAN	T	560	ENSP00000258484:A560T	ENSP00000258484:A560T	A	+	1	0	EPC2	149245384	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.340000	0.52143	2.646000	0.89796	0.563000	0.77884	GCA	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000332278.1		+	ENST00000258484.6	Missense_Mutation	SNP	2 : 149528914 - 149528914 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	713	124
TJP2	9414	broad.mit.edu	37	9	71863050	71863050	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71863050C>T	ENST00000377245.4	+	19	2998	c.2790C>T	c.(2788-2790)ggC>ggT	p.G930G	TJP2_ENST00000453658.2_Silent_p.G907G|TJP2_ENST00000539225.1_Silent_p.G961G|TJP2_ENST00000348208.4_Silent_p.G930G|TJP2_ENST00000265384.7_Silent_p.G930G|TJP2_ENST00000535702.1_Silent_p.G934G	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	930					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	p.G930G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GTGAAGGAGGCGCCTACACTG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	endometrium(1)											56	52	53			NA	NA	9		NA											NA				71863050		2203	4300	6503	SO:0001819	synonymous_variant			L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139	9414	9414			11828	protein-coding gene	gene with protein product	Friedreich ataxia region gene X104 (tight junction protein ZO-2), zona occludens 2	607709	deafness, autosomal dominant 51	DFNA51	NA	7951235, 20602916	Standard	NM_201629	NM_001170630	NA	Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.2790C>T	9.37:g.71863050C>T		NA	A2A3H9|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	37	CCDS6627.1																																																																																			TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052572.2		+	ENST00000377245.4	Silent	SNP	9 : 71863050 - 71863050 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	70
GMPPA	29926	broad.mit.edu	37	2	220367140	220367140	+	Missense_Mutation	SNP	G	G	A	rs138077680	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220367140G>A	ENST00000358215.3	+	6	835	c.466G>A	c.(466-468)Gtt>Att	p.V156I	GMPPA_ENST00000373908.1_Missense_Mutation_p.V156I|GMPPA_ENST00000341142.3_Missense_Mutation_p.V156I|GMPPA_ENST00000373917.3_Missense_Mutation_p.V156I|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000313597.5_Missense_Mutation_p.V156I	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	156			V -> A (in dbSNP:rs13396066).		dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		CGGCTGCATCGTTGAGAATCC	0.567		NA											G	1	5e-04	NA	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	2e-04	SNP								NA				0								G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	79	64	69		466,466	4.5	1	2	dbSNP_134	69	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	GMPPA	NM_013335.3,NM_205847.2	29,29	0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	156/421,156/421	220367140	2,13004	2203	4300	6503	SO:0001583	missense			AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591	29926	29926			22923	protein-coding gene	gene with protein product		615495			NA		Standard	NM_013335	NM_205847	NA	Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.466G>A	2.37:g.220367140G>A	ENSP00000350949:p.Val156Ile	NA	A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	37	CCDS2441.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	29.3	4.997176	0.93167	0.0	2.33E-4	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000455657;ENST00000435316;ENST00000341142;ENST00000373924	T;T;T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72	4.46	4.46	0.54185	Nucleotidyl transferase (1);	0.070922	0.56097	D	0.000035	T	0.79387	0.4437	L	0.55481	1.735	0.80722	D	1	D;D	0.69078	0.997;0.994	P;P	0.62184	0.837;0.899	T	0.81547	-0.0883	10	0.56958	D	0.05	-19.0138	16.7265	0.85423	0.0:0.0:1.0:0.0	.	156;156	Q96IJ6-2;Q96IJ6	.;GMPPA_HUMAN	I	156;156;156;156;156;121;156;86	ENSP00000315925:V156I;ENSP00000363027:V156I;ENSP00000350949:V156I;ENSP00000363016:V156I;ENSP00000392465:V156I;ENSP00000411060:V121I;ENSP00000340760:V156I	ENSP00000315925:V156I	V	+	1	0	GMPPA	220075384	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.071000	0.93980	2.046000	0.60703	0.561000	0.74099	GTT	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130230.1		+	ENST00000358215.3	Missense_Mutation	SNP	2 : 220367140 - 220367140 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	196	28
HSPBAP1	79663	broad.mit.edu	37	3	122459673	122459673	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122459673A>C	ENST00000306103.2	-	8	1129	c.986T>G	c.(985-987)gTt>gGt	p.V329G	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	329						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		AAATGCAGAAACAGCTGCATT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	103	104			NA	NA	3		NA											NA				122459673		2203	4300	6503	SO:0001583	missense			AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087	79663	79663			16389	protein-coding gene	gene with protein product		608263	HSPB (heat shock 27kD) associated protein 1		NA	11978969	Standard	NM_024610	NM_024610	NA	Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.986T>G	3.37:g.122459673A>C	ENSP00000302562:p.Val329Gly	NA	Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	37	CCDS3017.1	.	.	.	.	.	.	.	.	.	.	A	19.87	3.907393	0.72868	.	.	ENSG00000169087	ENST00000306103	T	0.41758	0.99	5.38	5.38	0.77491	Cupin, JmjC-type (1);	0.694163	0.14446	N	0.319061	T	0.54431	0.1858	M	0.65498	2.005	0.80722	D	1	D	0.54047	0.964	P	0.52267	0.694	T	0.57464	-0.7807	10	0.87932	D	0	.	13.2584	0.60091	1.0:0.0:0.0:0.0	.	329	Q96EW2	HBAP1_HUMAN	G	329	ENSP00000302562:V329G	ENSP00000302562:V329G	V	-	2	0	HSPBAP1	123942363	0.983000	0.35010	0.092000	0.20876	0.984000	0.73092	3.869000	0.56062	2.264000	0.75181	0.533000	0.62120	GTT	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356161.1		-	ENST00000306103.2	Missense_Mutation	SNP	3 : 122459673 - 122459673 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	577	23
KIAA0430	9665	broad.mit.edu	37	16	15729733	15729733	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15729733C>A	ENST00000540441.2	-	3	675	c.611G>T	c.(610-612)gGt>gTt	p.G204V	KIAA0430_ENST00000396368.3_Missense_Mutation_p.G204V|KIAA0430_ENST00000344181.3_Missense_Mutation_p.G26V|KIAA0430_ENST00000551742.1_Missense_Mutation_p.G204V|KIAA0430_ENST00000602337.1_Missense_Mutation_p.G204V|KIAA0430_ENST00000548025.1_Missense_Mutation_p.G204V			Q9Y4F3	LKAP_HUMAN	KIAA0430	203						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GTGCACATTACCATGACATGA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	96	95			NA	NA	16		NA											NA				15729733		2056	4189	6245	SO:0001583	missense			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783	9665	9665		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	29562	protein-coding gene	gene with protein product	limkain b1, protein phosphatase 1, regulatory subunit 34, meiosis arrest female 1	614593			NA	9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647	NM_014647	NA	Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000540441.2:c.611G>T	16.37:g.15729733C>A	ENSP00000439819:p.Gly204Val	NA	A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|Q6P1R6|Q8WYR2|Q9Y4J9	37		.	.	.	.	.	.	.	.	.	.	C	15.04	2.714553	0.48622	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.91	3.94	0.45596	.	0.365309	0.27219	N	0.020377	T	0.51024	0.1650	L	0.51422	1.61	0.09310	N	1	B;P;P;P;P	0.50369	0.05;0.934;0.934;0.934;0.891	B;P;P;P;P	0.55923	0.067;0.688;0.787;0.787;0.49	T	0.44283	-0.9338	9	0.72032	D	0.01	.	11.7683	0.51943	0.0:0.8098:0.124:0.0662	.	203;203;204;203;203	Q9Y4F3-6;Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;.;LKAP_HUMAN	V	204;204;203;26;204;204;204	.	ENSP00000315718:G203V	G	-	2	0	KIAA0430	15637234	0.973000	0.33851	0.001000	0.08648	0.957000	0.61999	3.123000	0.50453	0.815000	0.34398	0.655000	0.94253	GGT	KIAA0430-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000403737.1		-	ENST00000540441.2	Missense_Mutation	SNP	16 : 15729733 - 15729733 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	100
GAPDHS	26330	broad.mit.edu	37	19	36033285	36033285	+	Missense_Mutation	SNP	G	G	A	rs147678774		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36033285G>A	ENST00000222286.4	+	5	630	c.514G>A	c.(514-516)Gtg>Atg	p.V172M	AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000590125.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	172					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	GTCCACAGGCGTGTACCTCTC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	50	51			NA	NA	19		NA											NA				36033285		2203	4300	6503	SO:0001583	missense			AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679	26330	26330			24864	protein-coding gene	gene with protein product		609169		GAPDS	NA	10714828	Standard	NM_014364	NM_014364	NA	Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		ENST00000222286.4:c.514G>A	19.37:g.36033285G>A	ENSP00000222286:p.Val172Met	NA	B2RC82|O60823|Q6JTT9|Q9HCU6	37	CCDS12465.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909016	0.72868	.	.	ENSG00000105679	ENST00000222286	T	0.48522	0.81	5.24	3.08	0.35506	Glyceraldehyde 3-phosphate dehydrogenase, NAD(P) binding domain (2);NAD(P)-binding domain (1);	0.144521	0.45867	D	0.000336	T	0.65450	0.2692	M	0.86343	2.81	0.58432	D	0.999999	D	0.61697	0.99	P	0.60609	0.877	T	0.69877	-0.5026	10	0.72032	D	0.01	-17.6641	8.7846	0.34811	0.1862:0.0:0.8138:0.0	.	172	O14556	G3PT_HUMAN	M	172	ENSP00000222286:V172M	ENSP00000222286:V172M	V	+	1	0	GAPDHS	40725125	1.000000	0.71417	0.839000	0.33178	0.907000	0.53573	4.529000	0.60588	1.355000	0.45865	-0.448000	0.05591	GTG	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460423.1		+	ENST00000222286.4	Missense_Mutation	SNP	19 : 36033285 - 36033285 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	199	9
TTN	7273	broad.mit.edu	37	2	179598068	179598068	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179598068G>T	ENST00000589042.1	-	54	16176	c.15952C>A	c.(15952-15954)Ctc>Atc	p.L5318I	TTN_ENST00000342992.6_Missense_Mutation_p.L4074I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L5001I|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5001							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAAATTTGAGCTGGGCAACA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	86	87			NA	NA	2		NA											NA				179598068		1836	4096	5932	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.15952C>A	2.37:g.179598068G>T	ENSP00000467141:p.Leu5318Ile	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872505	0.33069	.	.	ENSG00000155657	ENST00000342992	T	0.72167	-0.63	5.86	5.86	0.93980	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85927	0.5811	M	0.92317	3.295	0.80722	D	1	D	0.63046	0.992	P	0.61070	0.883	D	0.88744	0.3245	9	0.87932	D	0	.	14.3531	0.66716	0.0704:0.0:0.9296:0.0	.	5001	Q8WZ42	TITIN_HUMAN	I	4074	ENSP00000343764:L4074I	ENSP00000343764:L4074I	L	-	1	0	TTN	179306313	0.999000	0.42202	0.999000	0.59377	0.969000	0.65631	2.844000	0.48246	2.765000	0.95021	0.655000	0.94253	CTC	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179598068 - 179598068 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	420	76
MYO5B	4645	broad.mit.edu	37	18	47398552	47398552	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47398552G>T	ENST00000285039.7	-	27	3887	c.3588C>A	c.(3586-3588)gcC>gcA	p.A1196A	MYO5B_ENST00000587895.1_5'UTR|MYO5B_ENST00000324581.6_Silent_p.A337A	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1196					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GACTATTGTAGGCCAGATCTG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													368	354	358			NA	NA	18		NA											NA				47398552		1946	4133	6079	SO:0001819	synonymous_variant			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306	4645	4645		Myosins / Myosin superfamily : Class V	7603	protein-coding gene	gene with protein product		606540			NA	8884266, 17462998	Standard		NM_001080467	NA	Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.3588C>A	18.37:g.47398552G>T		NA	B0I1R3	37	CCDS42436.1																																																																																			MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448515.2		-	ENST00000285039.7	Silent	SNP	18 : 47398552 - 47398552 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2023	67
G3BP2	9908	broad.mit.edu	37	4	76582860	76582860	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76582860G>A	ENST00000359707.4	-	4	1017	c.232C>T	c.(232-234)Cgt>Tgt	p.R78C	G3BP2_ENST00000395719.3_Missense_Mutation_p.R78C|G3BP2_ENST00000357854.3_Missense_Mutation_p.R78C|G3BP2_ENST00000502654.1_5'UTR	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	78	NTF2.				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding	p.R78C(2)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TCCACATGACGAATTTTAGTA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|large_intestine(1)											199	199	199			NA	NA	4		NA											NA				76582860		2203	4300	6503	SO:0001583	missense			AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757	9908	9908		RNA binding motif (RRM) containing	30291	protein-coding gene	gene with protein product	Ras-GTPase activating protein SH3 domain-binding protein 2				NA	9734811, 9575347	Standard	NM_012297	NM_203504	NA	Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.232C>T	4.37:g.76582860G>A	ENSP00000352738:p.Arg78Cys	NA	A8K6X1|O60606|O75149|Q9UPA1	37	CCDS3571.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001953	0.54254	.	.	ENSG00000138757	ENST00000395719;ENST00000359707;ENST00000357854;ENST00000503660;ENST00000507745;ENST00000509100;ENST00000511146;ENST00000515457;ENST00000507252;ENST00000511868	T;T;T	0.78595	-1.18;-1.18;-1.19	5.87	5.87	0.94306	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.000000	0.85682	D	0.000000	T	0.80869	0.4706	M	0.67953	2.075	0.80722	D	1	D;B	0.69078	0.997;0.149	P;B	0.45406	0.479;0.035	T	0.82991	-0.0182	10	0.72032	D	0.01	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	78;78	Q9UN86-2;Q9UN86	.;G3BP2_HUMAN	C	78	ENSP00000379069:R78C;ENSP00000352738:R78C;ENSP00000350518:R78C	ENSP00000350518:R78C	R	-	1	0	G3BP2	76801884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.982000	0.70532	2.941000	0.99782	0.655000	0.94253	CGT	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252399.2		-	ENST00000359707.4	Missense_Mutation	SNP	4 : 76582860 - 76582860 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	845	164
AQP8	343	broad.mit.edu	37	16	25228637	25228637	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25228637G>A	ENST00000219660.5	+	2	256	c.131G>A	c.(130-132)gGc>gAc	p.G44D	AQP8_ENST00000566125.1_Missense_Mutation_p.G38D	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	44					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		GAACTGCTGGGCTCTGCTCTC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													202	194	197			NA	NA	16		NA											NA				25228637		2197	4300	6497	SO:0001583	missense			BC040630	CCDS10626.1	16p12	2008-02-05			ENSG00000103375	ENSG00000103375	343	343		Ion channels / Aquaporins	642	protein-coding gene	gene with protein product		603750			NA	9806845, 10393433	Standard	NM_001169	NM_001169	NA	Approved		uc002doc.3	O94778	OTTHUMG00000097013	ENST00000219660.5:c.131G>A	16.37:g.25228637G>A	ENSP00000219660:p.Gly44Asp	NA	Q8IUU3|Q9UIA4	37	CCDS10626.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.850675	0.91277	.	.	ENSG00000103375	ENST00000219660	D	0.96856	-4.15	5.52	5.52	0.82312	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	D	0.99089	0.9687	H	0.99249	4.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99016	1.0816	10	0.87932	D	0	-18.2355	18.0064	0.89211	0.0:0.0:1.0:0.0	.	44	O94778	AQP8_HUMAN	D	44	ENSP00000219660:G44D	ENSP00000219660:G44D	G	+	2	0	AQP8	25136138	1.000000	0.71417	0.999000	0.59377	0.662000	0.39071	9.267000	0.95665	2.595000	0.87683	0.555000	0.69702	GGC	AQP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214102.2		+	ENST00000219660.5	Missense_Mutation	SNP	16 : 25228637 - 25228637 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1324	303
SALL4	57167	broad.mit.edu	37	20	50408810	50408810	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50408810G>A	ENST00000395997.3	-	2	278	c.212C>T	c.(211-213)aCg>aTg	p.T71M	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000217086.4_Missense_Mutation_p.T71M|SALL4_ENST00000483130.1_5'UTR			Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	71					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACAGACGTGCGTCTCCTCCCG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/THR	0,4406		0,0,2203	60	61	61		212	5.5	0.1	20		61	1,8599	1.2+/-3.3	0,1,4299	no	missense	SALL4	NM_020436.3	81	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	71/1054	50408810	1,13005	2203	4300	6503	SO:0001583	missense			AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115	57167	57167		Zinc fingers, C2H2-type	15924	protein-coding gene	gene with protein product		607343	sal (Drosophila)-like 4, sal-like 4 (Drosophila)		NA		Standard		NM_020436	NA	Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000395997.3:c.212C>T	20.37:g.50408810G>A	ENSP00000379319:p.Thr71Met	NA	Q540H3	37		.	.	.	.	.	.	.	.	.	.	G	26.7	4.759725	0.89932	0.0	1.16E-4	ENSG00000101115	ENST00000217086;ENST00000395997	T;T	0.50813	0.73;0.73	5.53	5.53	0.82687	.	0.163396	0.29314	N	0.012505	T	0.73140	0.3549	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69654	0.965;0.94	T	0.77496	-0.2566	10	0.87932	D	0	-27.7113	19.4467	0.94851	0.0:0.0:1.0:0.0	.	71;71	A2A2D8;Q9UJQ4	.;SALL4_HUMAN	M	71	ENSP00000217086:T71M;ENSP00000379319:T71M	ENSP00000217086:T71M	T	-	2	0	SALL4	49842217	1.000000	0.71417	0.068000	0.19968	0.102000	0.19082	7.635000	0.83286	2.582000	0.87167	0.655000	0.94253	ACG	SALL4-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000258918.2		-	ENST00000395997.3	Missense_Mutation	SNP	20 : 50408810 - 50408810 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	424	100
KDM2B	84678	broad.mit.edu	37	12	121878882	121878882	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121878882G>A	ENST00000377069.4	-	19	3638	c.3232C>T	c.(3232-3234)Cgg>Tgg	p.R1078W	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.R515W|KDM2B_ENST00000377071.4_Missense_Mutation_p.R1147W	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1147	F-box.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CCAGGCAGCCGGTTGATGAGC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	39	37			NA	NA	12		NA											NA				121878882		2037	4196	6233	SO:0001583	missense			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094	84678	84678		F-boxes / Leucine-rich repeats, Chromatin-modifying enzymes / K-demethylases	13610	protein-coding gene	gene with protein product	jumonji C domain-containing histone demethylase 1B	609078	F-box and leucine-rich repeat protein 10	FBXL10	NA	10799292	Standard	NM_032590	NM_032590	NA	Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377069.4:c.3232C>T	12.37:g.121878882G>A	ENSP00000366269:p.Arg1078Trp	NA	Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	37	CCDS41849.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626902	0.66901	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.38401	1.14;1.14;1.14	6.05	2.99	0.34606	.	0.000000	0.47852	D	0.000205	T	0.62684	0.2448	M	0.90082	3.085	0.80722	D	1	P;B;D;P	0.89917	0.942;0.071;1.0;0.861	P;B;D;B	0.87578	0.522;0.011;0.998;0.227	T	0.66870	-0.5814	10	0.87932	D	0	-27.807	9.1238	0.36803	0.15:0.0:0.6901:0.16	.	587;1147;1078;590	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	W	1135;515;1078;1147;590;1150	ENSP00000437821:R515W;ENSP00000366269:R1078W;ENSP00000366271:R1147W	ENSP00000261824:R1150W	R	-	1	2	KDM2B	120363265	1.000000	0.71417	0.480000	0.27341	0.828000	0.46876	2.543000	0.45752	0.905000	0.36596	0.643000	0.83706	CGG	KDM2B-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402131.2		-	ENST00000377069.4	Missense_Mutation	SNP	12 : 121878882 - 121878882 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	241	32
AGBL2	79841	broad.mit.edu	37	11	47732006	47732006	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47732006G>T	ENST00000528244.1	-	4	408	c.155C>A	c.(154-156)cCt>cAt	p.P52H	AGBL2_ENST00000357610.3_Missense_Mutation_p.P52H|AGBL2_ENST00000525123.1_Missense_Mutation_p.P52H|AGBL2_ENST00000298861.4_Missense_Mutation_p.P52H|AGBL2_ENST00000529712.1_5'UTR			Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	52					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	p.P52H(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						CAGGCATTGAGGGTTATTCTT	0.433		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)											135	125	129			NA	NA	11		NA											NA				47732006		2201	4298	6499	SO:0001583	missense				CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923	79841	79841			26296	protein-coding gene	gene with protein product	cytoplasmic carboxypeptidase 2				NA	12738998, 21303978	Standard	NM_024783	NM_024783	NA	Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000528244.1:c.155C>A	11.37:g.47732006G>T	ENSP00000436630:p.Pro52His	NA	A8MPX2|Q53FV5|Q8IV57|Q9H5C0	37		.	.	.	.	.	.	.	.	.	.	G	13.25	2.179860	0.38511	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244;ENST00000532595;ENST00000420784;ENST00000530577;ENST00000529154	T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0	4.82	4.82	0.62117	.	0.733796	0.12627	N	0.452554	T	0.57636	0.2067	M	0.67953	2.075	0.22412	N	0.999123	D;D;D	0.64830	0.993;0.994;0.994	P;P;P	0.56514	0.8;0.707;0.707	T	0.51949	-0.8640	10	0.87932	D	0	-3.1881	13.4672	0.61260	0.0:0.0:1.0:0.0	.	52;52;52	F6U0I4;B4DZS1;Q5U5Z8	.;.;CBPC2_HUMAN	H	52;52;52;52;52;52;32;52	ENSP00000435582:P52H;ENSP00000350228:P52H;ENSP00000298861:P52H;ENSP00000436630:P52H;ENSP00000436063:P52H;ENSP00000432264:P32H;ENSP00000436518:P52H	ENSP00000298861:P52H	P	-	2	0	AGBL2	47688582	1.000000	0.71417	0.148000	0.22405	0.069000	0.16628	4.127000	0.57944	2.239000	0.73571	0.585000	0.79938	CCT	AGBL2-003	NOVEL	non_canonical_conserved|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000383727.1		-	ENST00000528244.1	Missense_Mutation	SNP	11 : 47732006 - 47732006 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	514	88
CD93	22918	broad.mit.edu	37	20	23066551	23066551	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23066551G>A	ENST00000246006.4	-	1	426	c.279C>T	c.(277-279)ttC>ttT	p.F93F		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	93	C-type lectin.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCCCAATCCAGAACTTGCTCA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	30	33			NA	NA	20		NA											NA				23066551		2203	4298	6501	SO:0001819	synonymous_variant			U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810	22918	22918		CD molecules	15855	protein-coding gene	gene with protein product		120577	matrix-remodelling associated 4, complement component 1, q subcomponent, receptor 1, CD93 antigen	MXRA4, C1QR1	NA	9047234, 10648005	Standard	NM_012072	NM_012072	NA	Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.279C>T	20.37:g.23066551G>A		NA	O00274	37	CCDS13149.1																																																																																			CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078312.2		-	ENST00000246006.4	Silent	SNP	20 : 23066551 - 23066551 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	82	14
INO80D	54891	broad.mit.edu	37	2	206870181	206870181	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206870181G>A	ENST00000403263.1	-	11	2399	c.1995C>T	c.(1993-1995)ctC>ctT	p.L665L		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	665					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TCAGGCACTCGAGAGAAGTTA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	75	77			NA	NA	2		NA											NA				206870181		1972	4171	6143	SO:0001819	synonymous_variant				CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933	54891	54891		INO80 complex subunits	25997	protein-coding gene	gene with protein product					NA	16230350	Standard	NM_017759	NM_017759	NA	Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.1995C>T	2.37:g.206870181G>A		NA	B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	37	CCDS46500.1																																																																																			INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336459.1		-	ENST00000403263.1	Silent	SNP	2 : 206870181 - 206870181 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	54
HNRNPK	3190	broad.mit.edu	37	9	86585163	86585163	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86585163C>G	ENST00000376263.3	-	16	1498	c.1275G>C	c.(1273-1275)gaG>gaC	p.E425D	HNRNPK_ENST00000360384.5_Missense_Mutation_p.E425D|HNRNPK_ENST00000376281.4_Missense_Mutation_p.E425D|HNRNPK_ENST00000351839.3_Missense_Mutation_p.E425D|HNRNPK_ENST00000376264.2_Missense_Mutation_p.E425D	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	425	KH 3.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						CTTCTAAAGGCTCATCAATTT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	89	91			NA	NA	9		NA											NA				86585163		2203	4300	6503	SO:0001583	missense				CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119	3190	3190			5044	protein-coding gene	gene with protein product	transformation upregulated nuclear protein	600712		HNRPK	NA	8107114	Standard		NM_031263	NA	Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376263.3:c.1275G>C	9.37:g.86585163C>G	ENSP00000365439:p.Glu425Asp	NA	Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	37	CCDS6668.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783871	0.49891	.	.	ENSG00000165119	ENST00000376281;ENST00000376264;ENST00000376263;ENST00000376268;ENST00000351839;ENST00000435158;ENST00000360384;ENST00000376258	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	5.33	-2.79	0.05841	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.30947	0.0781	N	0.12853	0.265	0.50632	D	0.999883	D;B;D;D;D;D;D;D	0.76494	0.998;0.166;0.999;0.999;0.999;0.997;0.998;0.999	D;P;D;D;D;D;D;D	0.85130	0.994;0.519;0.996;0.996;0.995;0.99;0.996;0.997	T	0.02251	-1.1188	10	0.38643	T	0.18	-5.7936	13.4098	0.60935	0.0:0.4477:0.0:0.5523	.	401;390;425;420;425;401;425;425	B4DUQ1;Q5T6W5;Q5EC54;B4DFF1;P61978-2;P61978-3;P61978;Q6IBN1	.;.;.;.;.;.;HNRPK_HUMAN;.	D	425;425;425;425;425;390;425;420	ENSP00000365458:E425D;ENSP00000365440:E425D;ENSP00000365439:E425D;ENSP00000317788:E425D;ENSP00000353552:E425D	ENSP00000317788:E425D	E	-	3	2	HNRNPK	85774983	0.469000	0.25846	0.981000	0.43875	0.996000	0.88848	-0.281000	0.08456	-0.480000	0.06803	0.591000	0.81541	GAG	HNRNPK-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052855.1		-	ENST00000376263.3	Missense_Mutation	SNP	9 : 86585163 - 86585163 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	54
ANKRD11	29123	broad.mit.edu	37	16	89346638	89346638	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89346638G>A	ENST00000301030.4	-	9	6772	c.6312C>T	c.(6310-6312)gaC>gaT	p.D2104D	ANKRD11_ENST00000378330.2_Silent_p.D2104D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2104	Pro-rich.					nucleus		p.D2104D(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CGCGGCTGCCGTCCAGGAAGC	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	endometrium(1)											NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001819	synonymous_variant			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522	29123	29123		Ankyrin repeat domain containing	21316	protein-coding gene	gene with protein product		611192			NA	11483580	Standard	NM_013275	NM_001256182	NA	Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.6312C>T	16.37:g.89346638G>A		NA	Q6NTG1|Q6QMF8	37	CCDS32513.1																																																																																			ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000430462.3		-	ENST00000301030.4	Silent	SNP	16 : 89346638 - 89346638 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	222	62
OR6X1	390260	broad.mit.edu	37	11	123624777	123624777	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123624777G>A	ENST00000327930.2	-	1	476	c.450C>T	c.(448-450)ggC>ggT	p.G150G		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CAATGGTGAAGCCCACCACCC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	103	103			NA	NA	11		NA											NA				123624777		2202	4299	6501	SO:0001819	synonymous_variant			AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931	390260	390260		GPCR / Class A : Olfactory receptors	14737	protein-coding gene	gene with protein product					NA		Standard	NM_001005188	NM_001005188	NA	Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.450C>T	11.37:g.123624777G>A		NA	B9EGW9|Q6IFA0	37	CCDS31695.1																																																																																			OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387436.1		-	ENST00000327930.2	Silent	SNP	11 : 123624777 - 123624777 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	463	78
DCAF15	90379	broad.mit.edu	37	19	14071137	14071137	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14071137A>G	ENST00000254337.6	+	11	1586	c.1565A>G	c.(1564-1566)gAc>gGc	p.D522G		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	522										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GTGGCATGGGACCTCAACACA	0.617		NA									OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	125	131			NA	NA	19		NA											NA				14071137		2203	4300	6503	SO:0001583	missense			BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017	90379	90379		DDB1 and CUL4 associated factors	25095	protein-coding gene	gene with protein product			chromosome 19 open reading frame 72	C19orf72	NA		Standard	NM_138353	NM_138353	NA	Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.1565A>G	19.37:g.14071137A>G	ENSP00000254337:p.Asp522Gly	692	B3KS86|Q96DW0|Q9BU31	37	CCDS32926.1	.	.	.	.	.	.	.	.	.	.	a	23.5	4.428411	0.83667	.	.	ENSG00000132017	ENST00000254337	.	.	.	4.16	4.16	0.48862	.	0.066152	0.56097	D	0.000025	T	0.63674	0.2531	L	0.34521	1.04	0.58432	D	0.999999	D	0.69078	0.997	D	0.66716	0.946	T	0.67573	-0.5636	9	0.87932	D	0	-26.636	12.4814	0.55844	1.0:0.0:0.0:0.0	.	522	Q66K64	DCA15_HUMAN	G	522	.	ENSP00000254337:D522G	D	+	2	0	DCAF15	13932137	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.069000	0.89491	1.666000	0.50821	0.459000	0.35465	GAC	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458099.1		+	ENST00000254337.6	Missense_Mutation	SNP	19 : 14071137 - 14071137 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	565	99
GLUD2	2747	broad.mit.edu	37	X	120182956	120182956	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:120182956G>A	ENST00000328078.1	+	1	1495	c.1418G>A	c.(1417-1419)aGt>aAt	p.S473N		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	473					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	GTTCAAGAGAGTTTAGAAAGA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	137	143			NA	NA	X		NA											NA				120182956		2203	4300	6503	SO:0001583	missense			U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890	2747	2747			4336	protein-coding gene	gene with protein product		300144	glutamate dehydrogenase pseudogene 1	GLUDP1	NA	8207021, 9109504	Standard	NM_012084	NM_012084	NA	Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.1418G>A	X.37:g.120182956G>A	ENSP00000327589:p.Ser473Asn	NA	B2R8G0|Q9UDQ4	37	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207067	0.58343	.	.	ENSG00000182890	ENST00000328078	D	0.96651	-4.08	2.05	2.05	0.26809	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97495	0.9180	M	0.83118	2.625	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	D	0.96868	0.9637	10	0.62326	D	0.03	.	9.4506	0.38723	0.0:0.0:1.0:0.0	.	473	P49448	DHE4_HUMAN	N	473	ENSP00000327589:S473N	ENSP00000327589:S473N	S	+	2	0	GLUD2	120010637	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	6.189000	0.72051	1.080000	0.41073	0.406000	0.27484	AGT	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058133.1		+	ENST00000328078.1	Missense_Mutation	SNP	X : 120182956 - 120182956 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	497	144
MBD5	55777	broad.mit.edu	37	2	149243447	149243447	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149243447G>A	ENST00000407073.1	+	11	3979	c.2982G>A	c.(2980-2982)gcG>gcA	p.A994A	MBD5_ENST00000404807.1_Silent_p.A1227A	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	994						chromosome|nucleus	chromatin binding|DNA binding	p.A994A(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ATCTCCAGGCGTTCCAAGGAC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											116	119	118			NA	NA	2		NA											NA				149243447		2203	4300	6503	SO:0001819	synonymous_variant			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406	NA	55777			20444	protein-coding gene	gene with protein product		611472			NA	12529184	Standard		NM_018328	NA	Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.2982G>A	2.37:g.149243447G>A		NA	A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	37	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.371559	0.24771	.	.	ENSG00000204406	ENST00000416015	.	.	.	5.47	-3.25	0.05079	.	.	.	.	.	T	0.39545	0.1082	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37267	-0.9713	4	.	.	.	-1.8256	2.4518	0.04520	0.2503:0.4233:0.1571:0.1693	.	.	.	.	H	967	.	.	R	+	2	0	MBD5	148959917	0.710000	0.27896	0.997000	0.53966	0.993000	0.82548	-0.194000	0.09559	-0.164000	0.10927	-0.469000	0.05056	CGT	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318111.2		+	ENST00000407073.1	Silent	SNP	2 : 149243447 - 149243447 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	512	122
DLEC1	9940	broad.mit.edu	37	3	38141888	38141888	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38141888G>A	ENST00000308059.6	+	19	2857	c.2836G>A	c.(2836-2838)Gag>Aag	p.E946K	DLEC1_ENST00000346219.3_Missense_Mutation_p.E946K|DLEC1_ENST00000452631.2_Missense_Mutation_p.E946K			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	946					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GACCGTCCTGGAGCTGGAGGT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	69	68			NA	NA	3		NA											NA				38141888		1999	4157	6156	SO:0001583	missense			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226	9940	9940			2899	protein-coding gene	gene with protein product	cilia and flagella associated protein 81	604050			NA	10213508	Standard	NM_007337	XM_005265630	NA	Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2836G>A	3.37:g.38141888G>A	ENSP00000308597:p.Glu946Lys	NA	Q9NSW0|Q9NTG5	37	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031665	0.75504	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05786	3.41;3.39;3.63	4.68	3.8	0.43715	.	0.134395	0.48286	D	0.000192	T	0.13798	0.0334	M	0.72894	2.215	0.38794	D	0.95504	P;P;D;P	0.58268	0.897;0.744;0.982;0.897	P;B;P;P	0.55055	0.625;0.196;0.767;0.625	T	0.18241	-1.0343	10	0.06891	T	0.86	-11.375	12.2875	0.54800	0.0861:0.0:0.9139:0.0	.	946;946;946;946	F8W6T4;B7ZW06;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	K	946	ENSP00000308597:E946K;ENSP00000315914:E946K;ENSP00000410427:E946K	ENSP00000308597:E946K	E	+	1	0	DLEC1	38116892	1.000000	0.71417	0.947000	0.38551	0.747000	0.42532	4.466000	0.60148	1.087000	0.41251	0.467000	0.42956	GAG	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253745.3		+	ENST00000308059.6	Missense_Mutation	SNP	3 : 38141888 - 38141888 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	553	101
KIF26B	55083	broad.mit.edu	37	1	245530471	245530471	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245530471A>C	ENST00000407071.2	+	3	1241	c.801A>C	c.(799-801)aaA>aaC	p.K267N	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	267					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ACGGCAGCAAACCCAGCAGCC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	34	31			NA	NA	1		NA											NA				245530471		1996	4166	6162	SO:0001583	missense			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849	55083	55083		Kinesins	25484	protein-coding gene	gene with protein product		614026			NA		Standard	XM_371354	NM_018012	NA	Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.801A>C	1.37:g.245530471A>C	ENSP00000385545:p.Lys267Asn	NA	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	37	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.038421	0.55003	.	.	ENSG00000162849	ENST00000407071	T	0.80214	-1.35	5.75	0.452	0.16634	.	0.751547	0.12006	N	0.508288	D	0.82467	0.5043	M	0.62723	1.935	0.80722	D	1	P;D	0.60575	0.932;0.988	B;P	0.52957	0.445;0.714	T	0.80710	-0.1261	10	0.87932	D	0	.	10.5632	0.45156	0.7217:0.0:0.2783:0.0	.	267;267	B4DF75;Q2KJY2	.;KI26B_HUMAN	N	267	ENSP00000385545:K267N	ENSP00000385545:K267N	K	+	3	2	KIF26B	243597094	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	0.715000	0.25822	0.133000	0.18654	0.533000	0.62120	AAA	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381037.1		+	ENST00000407071.2	Missense_Mutation	SNP	1 : 245530471 - 245530471 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	71	15
ENAM	10117	broad.mit.edu	37	4	71510303	71510303	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71510303C>A	ENST00000396073.3	+	9	3441	c.3160C>A	c.(3160-3162)Cat>Aat	p.H1054N	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1054					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TAACATTCTGCATTTGCCATG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	101	105			NA	NA	4		NA											NA				71510303		2203	4300	6503	SO:0001583	missense			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464	10117	10117			3344	protein-coding gene	gene with protein product		606585	amelogenesis imperfecta 2, hypocalcification (autosomal dominant)	AIH2	NA	11978766	Standard	NM_031889	NM_031889	NA	Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.3160C>A	4.37:g.71510303C>A	ENSP00000379383:p.His1054Asn	NA	Q17RI5|Q9H3D1	37	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	C	9.472	1.095920	0.20552	.	.	ENSG00000132464	ENST00000396073	T	0.28666	1.6	5.95	0.457	0.16661	.	1.115720	0.06709	N	0.772753	T	0.22322	0.0538	N	0.22421	0.69	0.09310	N	1	B	0.32101	0.356	B	0.33196	0.159	T	0.35151	-0.9800	10	0.59425	D	0.04	0.5967	8.4848	0.33065	0.6254:0.2979:0.0:0.0767	.	1054	Q9NRM1	ENAM_HUMAN	N	1054	ENSP00000379383:H1054N	ENSP00000379383:H1054N	H	+	1	0	ENAM	71729167	0.031000	0.19500	0.080000	0.20451	0.656000	0.38851	0.220000	0.17660	0.265000	0.21872	0.655000	0.94253	CAT	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252166.3		+	ENST00000396073.3	Missense_Mutation	SNP	4 : 71510303 - 71510303 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	428	79
TRIB3	57761	broad.mit.edu	37	20	372084	372084	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:372084C>T	ENST00000217233.3	+	3	998	c.445C>T	c.(445-447)Cga>Tga	p.R149*	TRIB3_ENST00000422053.2_Nonsense_Mutation_p.R176*	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	149	Protein kinase.				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		CAGCCTGGTGCGAAGCCGCCA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(101;421 2374 19538)							NA				0													54	40	44			NA	NA	20		NA											NA				372084		2203	4300	6503	SO:0001587	stop_gained			AF250311	CCDS12997.1	20p13-p12.2	2013-10-03	2013-10-03	2004-05-04	ENSG00000101255	ENSG00000101255	57761	57761			16228	protein-coding gene	gene with protein product		607898	chromosome 20 open reading frame 97, tribbles homolog 3 (Drosophila)	C20orf97	NA	12791994, 16715410	Standard	NM_021158	XM_005260773	NA	Approved	dJ1103G7.3, TRB3	uc002wdm.3	Q96RU7	OTTHUMG00000031627	ENST00000217233.3:c.445C>T	20.37:g.372084C>T	ENSP00000217233:p.Arg149*	NA	Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	37	CCDS12997.1	.	.	.	.	.	.	.	.	.	.	C	38	6.925983	0.97940	.	.	ENSG00000101255	ENST00000217233;ENST00000449710;ENST00000422053	.	.	.	5.15	4.14	0.48551	.	0.000000	0.49916	D	0.000134	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-37.2272	12.6573	0.56793	0.1748:0.8252:0.0:0.0	.	.	.	.	X	149;149;176	.	ENSP00000217233:R149X	R	+	1	2	TRIB3	320084	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	1.962000	0.40442	2.667000	0.90743	0.561000	0.74099	CGA	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077441.2		+	ENST00000217233.3	Nonsense_Mutation	SNP	20 : 372084 - 372084 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	54
OR10G3	26533	broad.mit.edu	37	14	22038099	22038099	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:22038099G>A	ENST00000303532.1	-	1	776	c.777C>T	c.(775-777)atC>atT	p.I259I		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		GCCTCAGGTAGATGAAGGCAC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	85	83			NA	NA	14		NA											NA				22038099		2203	4300	6503	SO:0001819	synonymous_variant				CCDS32046.1	14q11.2	2013-09-24			ENSG00000169208	ENSG00000169208	26533	26533		GPCR / Class A : Olfactory receptors	8171	protein-coding gene	gene with protein product					NA	8188290	Standard		NM_001005465	NA	Approved		uc010tmb.2	Q8NGC4	OTTHUMG00000168886	ENST00000303532.1:c.777C>T	14.37:g.22038099G>A		NA	Q6IET7|Q96R77	37	CCDS32046.1																																																																																			OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401521.1		-	ENST00000303532.1	Silent	SNP	14 : 22038099 - 22038099 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	704	128
ZNF611	81856	broad.mit.edu	37	19	53208551	53208551	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53208551C>A	ENST00000602162.1	-	2	1610	c.1550G>T	c.(1549-1551)aGa>aTa	p.R517I	ZNF611_ENST00000453741.2_Missense_Mutation_p.R517I|ZNF611_ENST00000319783.1_Missense_Mutation_p.R586I|ZNF611_ENST00000540744.1_Missense_Mutation_p.R586I|ZNF611_ENST00000595798.1_Missense_Mutation_p.R517I|ZNF611_ENST00000543227.1_Missense_Mutation_p.R586I			Q8N823	ZN611_HUMAN	zinc finger protein 611	586					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		ACTATGAACTCTATGATGGCA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													258	235	243			NA	NA	19		NA											NA				53208551		2203	4300	6503	SO:0001583	missense			AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020	81856	81856		Zinc fingers, C2H2-type, -	28766	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_030972	NM_030972	NA	Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000602162.1:c.1550G>T	19.37:g.53208551C>A	ENSP00000472648:p.Arg517Ile	NA	B3KRD5|Q69YG9	37	CCDS54312.1	.	.	.	.	.	.	.	.	.	.	.	11.94	1.788816	0.31685	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	1.58	0.308	0.15815	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22551	0.0544	L	0.58810	1.83	0.09310	N	1	P	0.37612	0.602	B	0.37239	0.244	T	0.16276	-1.0408	9	0.59425	D	0.04	.	4.7739	0.13169	0.2223:0.3359:0.4418:0.0	.	586	Q8N823	ZN611_HUMAN	I	586;586;517;586	ENSP00000437616:R586I;ENSP00000439211:R586I;ENSP00000443505:R517I;ENSP00000322427:R586I	ENSP00000322427:R586I	R	-	2	0	ZNF611	57900363	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.834000	0.04391	-0.045000	0.13468	0.313000	0.20887	AGA	ZNF611-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462990.1		-	ENST00000602162.1	Missense_Mutation	SNP	19 : 53208551 - 53208551 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1501	263
KDM4A	9682	broad.mit.edu	37	1	44149434	44149434	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44149434G>A	ENST00000372396.3	+	12	1948	c.1814G>A	c.(1813-1815)cGc>cAc	p.R605H		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	605	Interaction with NCOR1.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						AAGCTCCCCCGCCATCACCCA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	101	103			NA	NA	1		NA											NA				44149434		2203	4300	6503	SO:0001583	missense			AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135	9682	9682		Chromatin-modifying enzymes / K-demethylases, Tudor domain containing	22978	protein-coding gene	gene with protein product	jumonji C domain-containing histone demethylase 3A, tudor domain containing 14A	609764	jumonji domain containing 2, jumonji domain containing 2A	JMJD2, JMJD2A	NA	9734811, 15138608	Standard	NM_014663	XM_005271354	NA	Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.1814G>A	1.37:g.44149434G>A	ENSP00000361473:p.Arg605His	NA	Q5VVB1	37	CCDS491.1	.	.	.	.	.	.	.	.	.	.	G	33	5.231546	0.95207	.	.	ENSG00000066135	ENST00000372396	T	0.42131	0.98	5.47	5.47	0.80525	.	0.115168	0.53938	D	0.000054	T	0.61664	0.2365	L	0.55481	1.735	0.49687	D	0.999811	D	0.76494	0.999	D	0.76071	0.987	T	0.59429	-0.7456	10	0.46703	T	0.11	-13.6714	18.988	0.92780	0.0:0.0:1.0:0.0	.	605	O75164	KDM4A_HUMAN	H	605	ENSP00000361473:R605H	ENSP00000361473:R605H	R	+	2	0	KDM4A	43922021	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	8.224000	0.89781	2.589000	0.87451	0.551000	0.68910	CGC	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019960.1		+	ENST00000372396.3	Missense_Mutation	SNP	1 : 44149434 - 44149434 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	420	36
LYST	1130	broad.mit.edu	37	1	235964335	235964335	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235964335C>T	ENST00000389794.3	-	9	3949	c.3775G>A	c.(3775-3777)Gaa>Aaa	p.E1259K	LYST_ENST00000536965.1_Missense_Mutation_p.E1259K|LYST_ENST00000389793.2_Missense_Mutation_p.E1259K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1259					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GTGAGGTTTTCGAGTAAGTCA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	107	106			NA	NA	1		NA											NA				235964335		2203	4300	6503	SO:0001583	missense			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669	1130	1130		WD repeat domain containing	1968	protein-coding gene	gene with protein product		606897	Chediak-Higashi syndrome 1	CHS1	NA	8717042, 8896560	Standard		NM_000081	NA	Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.3775G>A	1.37:g.235964335C>T	ENSP00000374444:p.Glu1259Lys	NA	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488528	0.84854	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.62788	0.0;0.0;1.15	5.86	4.95	0.65309	.	0.382888	0.30630	N	0.009210	T	0.71634	0.3363	L	0.43152	1.355	0.42271	D	0.992054	D;P	0.89917	1.0;0.528	D;B	0.80764	0.994;0.031	T	0.73566	-0.3942	10	0.52906	T	0.07	.	13.5533	0.61745	0.0:0.928:0.0:0.072	.	1259;1259	Q99698-3;Q99698	.;LYST_HUMAN	K	1259	ENSP00000374444:E1259K;ENSP00000374443:E1259K;ENSP00000438315:E1259K	ENSP00000374443:E1259K	E	-	1	0	LYST	234030958	0.869000	0.29996	0.800000	0.32199	0.934000	0.57294	1.500000	0.35682	1.617000	0.50277	0.650000	0.86243	GAA	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097533.5		-	ENST00000389794.3	Missense_Mutation	SNP	1 : 235964335 - 235964335 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	542	86
LRRC4B	94030	broad.mit.edu	37	19	51021728	51021728	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51021728G>A	ENST00000599957.1	-	3	1439	c.1242C>T	c.(1240-1242)tcC>tcT	p.S414S	LRRC4B_ENST00000389201.3_Silent_p.S414S			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	414	Ig-like C2-type.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CATGCAGGACGGAGATGCGCA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	72	69			NA	NA	19		NA											NA				51021728		2196	4278	6474	SO:0001819	synonymous_variant			BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409	94030	94030		Immunoglobulin superfamily / I-set domain containing, Endogenous ligands	25042	protein-coding gene	gene with protein product	netrin-G3 ligand		leucine-rich repeats and immunoglobulin-like domains 4	LRIG4	NA	11441184	Standard	NM_001080457	NM_001080457	NA	Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1242C>T	19.37:g.51021728G>A		NA	Q3ZCQ4|Q58F20	37	CCDS42595.1																																																																																			LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464907.1		-	ENST00000599957.1	Silent	SNP	19 : 51021728 - 51021728 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	11
UBN2	254048	broad.mit.edu	37	7	138968305	138968305	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138968305G>A	ENST00000473989.3	+	15	2654	c.2654G>A	c.(2653-2655)aGc>aAc	p.S885N	UBN2_ENST00000288561.8_Missense_Mutation_p.S802N	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	NA	Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CAGAGGTCAAGCCAGATTCAC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	85	85			NA	NA	7		NA											NA				138968305		1952	4153	6105	SO:0001583	missense			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741	254048	254048			21931	protein-coding gene	gene with protein product		613841			NA	19029251	Standard	NM_173569	NM_173569	NA	Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.2654G>A	7.37:g.138968305G>A	ENSP00000418648:p.Ser885Asn	NA	A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	37	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289146	0.40494	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.35789	1.33;1.29	5.55	5.55	0.83447	.	0.190170	0.49305	D	0.000144	T	0.29976	0.0750	L	0.43152	1.355	0.33106	D	0.539887	B	0.32245	0.361	B	0.24155	0.051	T	0.40813	-0.9543	10	0.37606	T	0.19	-3.5989	14.6869	0.69055	0.0:0.0:0.8548:0.1451	.	885	Q6ZU65	UBN2_HUMAN	N	885;802	ENSP00000418648:S885N;ENSP00000288561:S802N	ENSP00000288561:S802N	S	+	2	0	UBN2	138618845	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.846000	0.55888	2.775000	0.95449	0.467000	0.42956	AGC	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349272.3		+	ENST00000473989.3	Missense_Mutation	SNP	7 : 138968305 - 138968305 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	558	54
NCAPD3	23310	broad.mit.edu	37	11	134074865	134074865	+	Splice_Site	SNP	C	C	T	rs112640641		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134074865C>T	ENST00000534548.2	-	9	1082	c.1018G>A	c.(1018-1020)Gcc>Acc	p.A340T		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	340					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TCCACAAGGGCGCTTTGTAAA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	119	119			NA	NA	11		NA											NA				134074865		2201	4297	6498	SO:0001630	splice_region_variant			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503	23310	23310			28952	protein-coding gene	gene with protein product		609276			NA	7584044, 8619474, 14532007	Standard	NM_015261	NM_015261	NA	Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.1017-1G>A	11.37:g.134074865C>T		NA	A6NFS2|Q4KMQ9	37	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329475	0.24167	.	.	ENSG00000151503	ENST00000534548	T	0.04706	3.57	5.54	3.17	0.36434	Armadillo-type fold (1);	0.659510	0.16079	N	0.230607	T	0.03011	0.0089	N	0.08118	0	0.31644	N	0.647619	B	0.19445	0.036	B	0.11329	0.006	T	0.29640	-1.0005	10	0.22706	T	0.39	-1.2962	12.446	0.55651	0.7319:0.268:0.0:0.0	.	340	P42695	CNDD3_HUMAN	T	340	ENSP00000433681:A340T	ENSP00000431612:A340T	A	-	1	0	NCAPD3	133580075	0.978000	0.34361	0.053000	0.19242	0.026000	0.11368	2.460000	0.45031	0.366000	0.24427	-0.364000	0.07487	GCC	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393575.2	Missense_Mutation	-	ENST00000534548.2	Splice_Site	SNP	11 : 134074865 - 134074865 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	422	61
ZFAT	57623	broad.mit.edu	37	8	135614438	135614438	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:135614438C>A	ENST00000520727.1	-	7	1787	c.1488G>T	c.(1486-1488)caG>caT	p.Q496H	ZFAT_ENST00000523399.1_Missense_Mutation_p.Q446H|ZFAT_ENST00000429442.2_Missense_Mutation_p.Q496H|ZFAT_ENST00000520356.1_Missense_Mutation_p.Q496H|ZFAT_ENST00000520214.1_Missense_Mutation_p.Q496H|ZFAT_ENST00000377838.3_Missense_Mutation_p.Q508H	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GAGCTTCTTGCTGGATGTCCC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	24	23			NA	NA	8		NA											NA				135614438		1891	4113	6004	SO:0001583	missense			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827	57623	57623		Zinc fingers, C2H2-type	19899	protein-coding gene	gene with protein product		610931	zinc finger protein 406	ZNF406, ZFAT1	NA	10819331, 18329245	Standard	NM_001029939	NM_020863	NA	Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000520727.1:c.1488G>T	8.37:g.135614438C>A	ENSP00000427831:p.Gln496His	NA	Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	37	CCDS43768.2	.	.	.	.	.	.	.	.	.	.	C	11.57	1.678896	0.29783	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.11495	2.85;2.78;2.78;2.77;2.78;2.82	6.04	3.28	0.37604	.	0.183522	0.39146	N	0.001442	T	0.08714	0.0216	L	0.32530	0.975	0.46011	D	0.99881	B;B;B;B	0.16166	0.011;0.011;0.016;0.004	B;B;B;B	0.19666	0.01;0.009;0.026;0.003	T	0.15435	-1.0437	10	0.41790	T	0.15	-19.2128	8.868	0.35298	0.0:0.726:0.1347:0.1394	.	446;496;496;508	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	H	496;496;496;508;496;446;496	ENSP00000427879:Q496H;ENSP00000427831:Q496H;ENSP00000394501:Q496H;ENSP00000367069:Q508H;ENSP00000428483:Q496H;ENSP00000429091:Q446H	ENSP00000367069:Q508H	Q	-	3	2	ZFAT	135683620	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	0.599000	0.24089	0.892000	0.36259	0.563000	0.77884	CAG	ZFAT-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378270.1		-	ENST00000520727.1	Missense_Mutation	SNP	8 : 135614438 - 135614438 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	169	15
FRMPD1	22844	broad.mit.edu	37	9	37744622	37744622	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37744622G>A	ENST00000539465.1	+	16	3186	c.2593G>A	c.(2593-2595)Gac>Aac	p.D865N	FRMPD1_ENST00000377765.3_Missense_Mutation_p.D865N|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	865						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GAGTGTAGACGACGTGTGCTA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	76	77			NA	NA	9		NA											NA				37744622		2203	4300	6503	SO:0001583	missense			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601	22844	22844			29159	protein-coding gene	gene with protein product					NA	10231032	Standard	NM_014907	NM_014907	NA	Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.2593G>A	9.37:g.37744622G>A	ENSP00000444411:p.Asp865Asn	NA	D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	37	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	9.669	1.146103	0.21288	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.07908	3.15;3.15	5.26	1.02	0.19986	.	0.517604	0.20831	N	0.084881	T	0.07188	0.0182	L	0.44542	1.39	0.09310	N	0.999999	B	0.09022	0.002	B	0.04013	0.001	T	0.37174	-0.9717	10	0.22109	T	0.4	-3.6729	10.0835	0.42404	0.0903:0.5934:0.3162:0.0	.	865	Q5SYB0	FRPD1_HUMAN	N	865	ENSP00000366995:D865N;ENSP00000444411:D865N	ENSP00000366995:D865N	D	+	1	0	FRMPD1	37734622	0.020000	0.18652	0.007000	0.13788	0.649000	0.38597	2.070000	0.41491	0.202000	0.20498	0.561000	0.74099	GAC	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402969.1		+	ENST00000539465.1	Missense_Mutation	SNP	9 : 37744622 - 37744622 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	277	50
ICAM5	7087	broad.mit.edu	37	19	10404950	10404950	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10404950A>G	ENST00000221980.4	+	8	2009	c.1946A>G	c.(1945-1947)aAc>aGc	p.N649S		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	649	Ig-like C2-type 7.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			AACGCCACCAACCGCCACGGC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	112	107			NA	NA	19		NA											NA				10404950		2202	4300	6502	SO:0001583	missense			U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376	7087	7087		Immunoglobulin superfamily / Immunoglobulin-like domain containing	5348	protein-coding gene	gene with protein product	telencephalin	601852		TLCN	NA	8995416, 9828136	Standard	NM_003259	NM_003259	NA	Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.1946A>G	19.37:g.10404950A>G	ENSP00000221980:p.Asn649Ser	NA	Q9Y6F3	37	CCDS12233.1	.	.	.	.	.	.	.	.	.	.	A	5.854	0.341696	0.11069	.	.	ENSG00000105376	ENST00000221980	T	0.60920	0.15	5.21	4.2	0.49525	Immunoglobulin-like fold (1);	0.235251	0.29900	N	0.010901	T	0.41834	0.1176	L	0.38175	1.15	0.31734	N	0.636686	P	0.36027	0.533	B	0.34536	0.185	T	0.49643	-0.8918	10	0.30078	T	0.28	-20.9295	6.936	0.24466	0.8984:0.0:0.1016:0.0	.	649	Q9UMF0	ICAM5_HUMAN	S	649	ENSP00000221980:N649S	ENSP00000221980:N649S	N	+	2	0	ICAM5	10265950	0.988000	0.35896	0.932000	0.37286	0.077000	0.17291	3.046000	0.49846	1.968000	0.57251	0.448000	0.29417	AAC	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451217.1		+	ENST00000221980.4	Missense_Mutation	SNP	19 : 10404950 - 10404950 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1560	52
SIAH2	6478	broad.mit.edu	37	3	150460089	150460089	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150460089G>A	ENST00000312960.3	-	2	1341	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	272	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GTCAATCTCCGCCGGTTCCCA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	72	78			NA	NA	3		NA											NA				150460089		2203	4300	6503	SO:0001583	missense			U76248	CCDS3152.1	3q25	2012-02-23	2012-02-23		ENSG00000181788	ENSG00000181788	6478	6478	6.3.2.1		10858	protein-coding gene	gene with protein product		602213	seven in absentia (Drosophila) homolog 2, seven in absentia homolog 2 (Drosophila)		NA	9334332	Standard	NM_005067	NM_005067	NA	Approved		uc003eyi.3	O43255	OTTHUMG00000159847	ENST00000312960.3:c.814C>T	3.37:g.150460089G>A	ENSP00000322457:p.Arg272Trp	NA	O43270	37	CCDS3152.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039982	0.75732	.	.	ENSG00000181788	ENST00000312960	T	0.27256	1.68	5.81	3.95	0.45737	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.000000	0.85682	D	0.000000	T	0.60779	0.2295	M	0.93939	3.475	0.49213	D	0.999767	D	0.89917	1.0	D	0.97110	1.0	T	0.71374	-0.4612	10	0.72032	D	0.01	.	14.2055	0.65732	0.0:0.0:0.4393:0.5607	.	272	O43255	SIAH2_HUMAN	W	272	ENSP00000322457:R272W	ENSP00000322457:R272W	R	-	1	2	SIAH2	151942779	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.206000	0.51098	0.726000	0.32339	0.591000	0.81541	CGG	SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357697.1		-	ENST00000312960.3	Missense_Mutation	SNP	3 : 150460089 - 150460089 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	55
OBSCN	84033	broad.mit.edu	37	1	228559429	228559429	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228559429C>T	ENST00000570156.2	+	105	23895	c.23821C>T	c.(23821-23823)Cga>Tga	p.R7941*	OBSCN_ENST00000366707.4_Nonsense_Mutation_p.R4618*|OBSCN_ENST00000422127.1_Nonsense_Mutation_p.R6984*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6984					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGAGGCACAGCGACTGCCTTC	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	19	18			NA	NA	1		NA											NA				228559429		1923	4075	5998	SO:0001587	stop_gained			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358	84033	84033		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	15719	protein-coding gene	gene with protein product		608616			NA	11448995, 11814696	Standard	NM_052843	NM_001098623	NA	Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000570156.2:c.23821C>T	1.37:g.228559429C>T	ENSP00000455507:p.Arg7941*	NA	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	37	CCDS59204.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	64|64	83.473702|83.473702	0.99995|0.99995	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000441106|ENST00000422127;ENST00000366707	.|.	.|.	.|.	4.69|4.69	-8.05|-8.05	0.01106|0.01106	.|.	.|.	.|.	.|.	.|.	T|.	0.15652|.	0.0377|.	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.32375|.	-0.9909|.	4|.	.|0.13470	.|T	.|0.59	.|.	7.8603|7.8603	0.29506|0.29506	0.0:0.3:0.4273:0.2728|0.0:0.3:0.4273:0.2728	.|.	.|.	.|.	.|.	V|X	1600|6984;4618	.|.	.|ENSP00000355668:R4618X	A|R	+|+	2|1	0|2	OBSCN|OBSCN	226626052|226626052	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.111000|0.111000	0.15458|0.15458	-1.059000|-1.059000	0.03193|0.03193	-1.102000|-1.102000	0.02115|0.02115	GCG|CGA	OBSCN-011	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421354.3		+	ENST00000570156.2	Nonsense_Mutation	SNP	1 : 228559429 - 228559429 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	43
EMC3	55831	broad.mit.edu	37	3	10011449	10011449	+	Missense_Mutation	SNP	G	G	A	rs144158403		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10011449G>A	ENST00000245046.2	-	7	1069	c.611C>T	c.(610-612)aCg>aTg	p.T204M	EMC3_ENST00000497557.1_5'UTR	NM_018447.2	NP_060917.1			ER membrane protein complex subunit 3	NA											NA						GGCTGCTCCCGTCATCTGCTC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	114	101	106		611	5.4	1	3	dbSNP_134	106	0,8600		0,0,4300	no	missense	TMEM111	NM_018447.2	81	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	benign	204/262	10011449	1,13005	2203	4300	6503	SO:0001583	missense			AF157321	CCDS2594.1	3p25.3	2012-05-23	2012-05-23	2012-05-23	ENSG00000125037	ENSG00000125037	55831	55831			23999	protein-coding gene	gene with protein product			transmembrane protein 111	TMEM111	NA	19797678, 22119785	Standard	NM_018447	NM_018447	NA	Approved		uc003bun.3	Q9P0I2	OTTHUMG00000128652	ENST00000245046.2:c.611C>T	3.37:g.10011449G>A	ENSP00000245046:p.Thr204Met	NA		37	CCDS2594.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.564403	0.45694	2.27E-4	0.0	ENSG00000125037	ENST00000245046	.	.	.	5.41	5.41	0.78517	.	0.042541	0.85682	D	0.000000	T	0.45478	0.1344	L	0.28274	0.84	0.80722	D	1	B;B	0.23650	0.02;0.089	B;B	0.18561	0.011;0.022	T	0.30995	-0.9959	9	0.25751	T	0.34	.	16.6904	0.85320	0.0:0.0:1.0:0.0	.	204;204	Q9P0I2-2;Q9P0I2	.;TM111_HUMAN	M	204	.	ENSP00000245046:T204M	T	-	2	0	TMEM111	9986449	1.000000	0.71417	0.982000	0.44146	0.986000	0.74619	3.268000	0.51585	2.530000	0.85305	0.655000	0.94253	ACG	EMC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250532.1		-	ENST00000245046.2	Missense_Mutation	SNP	3 : 10011449 - 10011449 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	405	75
MPZ	4359	broad.mit.edu	37	1	161277072	161277072	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161277072G>A	ENST00000533357.1	-	2	276	c.210C>T	c.(208-210)ccC>ccT	p.P70P	MPZ_ENST00000491222.2_5'UTR|MPZ_ENST00000336559.4_Silent_p.P70P|MPZ_ENST00000360451.6_Silent_p.P80P	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	70	Ig-like V-type.				synaptic transmission	integral to plasma membrane	structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGCCCCCTTCGGGCTGGTAGC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	45	47			NA	NA	1		NA											NA				161277072		2203	4300	6503	SO:0001819	synonymous_variant			BC006491	CCDS1229.1, CCDS1229.2	1q22	2014-09-17	2008-08-01		ENSG00000158887	ENSG00000158887	4359	4359		Immunoglobulin superfamily / V-set domain containing	7225	protein-coding gene	gene with protein product		159440	Charcot-Marie-Tooth neuropathy 1B	CMT1, CMT1B	NA	7693129	Standard	NM_000530	NM_000530	NA	Approved	HMSNIB	uc001gaf.4	P25189	OTTHUMG00000034341	ENST00000533357.1:c.210C>T	1.37:g.161277072G>A		NA	Q16072|Q5VTH4|Q92677|Q9BR67	37	CCDS1229.2																																																																																			MPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000082987.2		-	ENST00000533357.1	Silent	SNP	1 : 161277072 - 161277072 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	249	40
DNAH8	1769	broad.mit.edu	37	6	38691111	38691111	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38691111A>G	ENST00000359357.3	+	2	78		c.e2-1		DNAH8_ENST00000449981.2_Splice_Site					dynein, axonemal, heavy chain 8	NA										NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTCATTCCTTAGGCAAGATTT	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	110	108			NA	NA	6		NA											NA				38691111		876	1991	2867	SO:0001630	splice_region_variant			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721	1769	1769		Axonemal dyneins	2952	protein-coding gene	gene with protein product		603337	dynein, axonemal, heavy polypeptide 8		NA	9373155	Standard	NM_001206927	NM_001206927	NA	Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.-176-1A>G	6.37:g.38691111A>G		NA		37		.	.	.	.	.	.	.	.	.	.	A	18.32	3.597436	0.66332	.	.	ENSG00000124721	ENST00000373278;ENST00000449981;ENST00000327475	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4259	0.61026	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH8	38799089	1.000000	0.71417	0.995000	0.50966	0.943000	0.58893	5.976000	0.70484	2.146000	0.66826	0.533000	0.62120	.	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000043574.1	Intron	+	ENST00000359357.3	Splice_Site	SNP	6 : 38691111 - 38691111 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	472	86
ZNF445	353274	broad.mit.edu	37	3	44492866	44492866	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44492866C>T	ENST00000396077.2	-	4	885	c.538G>A	c.(538-540)Ggg>Agg	p.G180R	ZNF445_ENST00000425708.2_Missense_Mutation_p.G180R	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	180					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		AGGTGGTCCCCCAGAGCAGAG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	110	109			NA	NA	3		NA											NA				44492866		2203	4300	6503	SO:0001583	missense			AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219	353274	353274		Zinc fingers, C2H2-type, -, -, -	21018	protein-coding gene	gene with protein product			zinc finger protein 168	ZNF168	NA	7814019	Standard	NM_181489	NM_181489	NA	Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.538G>A	3.37:g.44492866C>T	ENSP00000379387:p.Gly180Arg	NA	Q3MJD1	37	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.319933	0.41096	.	.	ENSG00000185219	ENST00000425708;ENST00000396077;ENST00000340674;ENST00000430301	T;T	0.05855	3.38;3.38	4.63	2.73	0.32206	.	0.311846	0.23426	N	0.048304	T	0.05868	0.0153	L	0.27053	0.805	0.09310	N	1	P;P	0.50272	0.933;0.933	P;P	0.45913	0.497;0.497	T	0.30909	-0.9962	10	0.40728	T	0.16	.	7.562	0.27857	0.1891:0.6282:0.1827:0.0	.	180;180	B7ZKX2;P59923	.;ZN445_HUMAN	R	180;180;173;178	ENSP00000413073:G180R;ENSP00000379387:G180R	ENSP00000342436:G173R	G	-	1	0	ZNF445	44467870	0.000000	0.05858	0.140000	0.22221	0.991000	0.79684	0.103000	0.15292	0.625000	0.30304	0.491000	0.48974	GGG	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256647.2		-	ENST00000396077.2	Missense_Mutation	SNP	3 : 44492866 - 44492866 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	827	166
ZNF273	10793	broad.mit.edu	37	7	64389058	64389058	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:64389058T>G	ENST00000476120.1	+	4	1423	c.1352T>G	c.(1351-1353)aTt>aGt	p.I451S	ZNF273_ENST00000319636.5_Missense_Mutation_p.I386S|ZNF273_ENST00000527278.1_3'UTR	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	451					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CATAAGATAATTCATACTGGA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)							NA				0													32	35	34			NA	NA	7		NA											NA				64389058		2201	4298	6499	SO:0001583	missense			X78932	CCDS5528.2	7q11.21	2013-01-08				ENSG00000198039	10793	10793		Zinc fingers, C2H2-type, -	13067	protein-coding gene	gene with protein product		604756			NA	7865130	Standard		NR_003099	NA	Approved	HZF9	uc003tto.3	Q14593		ENST00000476120.1:c.1352T>G	7.37:g.64389058T>G	ENSP00000418719:p.Ile451Ser	NA	B3KQZ5|Q6P3V4	37	CCDS5528.2	.	.	.	.	.	.	.	.	.	.	.	15.61	2.883389	0.51908	.	.	ENSG00000198039	ENST00000476120;ENST00000319636	T;T	0.00659	5.94;5.94	1.16	1.16	0.20824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01029	0.0034	N	0.11106	0.095	0.28238	N	0.925795	P	0.35226	0.491	P	0.50934	0.654	T	0.51896	-0.8647	9	0.72032	D	0.01	.	5.7517	0.18150	0.0:0.0:0.0:1.0	.	451	Q14593	ZN273_HUMAN	S	451;386	ENSP00000418719:I451S;ENSP00000324518:I386S	ENSP00000324518:I386S	I	+	2	0	ZNF273	64026493	0.000000	0.05858	0.826000	0.32828	0.824000	0.46624	-0.280000	0.08468	0.175000	0.19841	0.172000	0.16884	ATT	ZNF273-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313502.1		+	ENST00000476120.1	Missense_Mutation	SNP	7 : 64389058 - 64389058 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	238	47
PCDHB14	56122	broad.mit.edu	37	5	140604652	140604652	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140604652G>T	ENST00000239449.4	+	1	1575	c.1575G>T	c.(1573-1575)caG>caT	p.Q525H	PCDHB14_ENST00000515856.2_Missense_Mutation_p.Q372H	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	525	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCCCTACAGGAGTTCGAGT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(141;50 1831 27899 33809 37648)							NA				0													79	85	83			NA	NA	5		NA											NA				140604652		2203	4300	6503	SO:0001583	missense			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327	56122	56122		Cadherins / Protocadherins : Clustered	8685	other	protocadherin		606340			NA	10380929	Standard	NM_018934	NM_018934	NA	Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1575G>T	5.37:g.140604652G>T	ENSP00000239449:p.Gln525His	NA	Q4FZA4|Q4KN11	37	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	13.43	2.234204	0.39498	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.01767	4.65;4.65	4.15	-5.01	0.02991	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.07458	0.0188	M	0.81802	2.56	0.09310	N	1	D	0.69078	0.997	D	0.66979	0.948	T	0.00356	-1.1793	9	0.66056	D	0.02	.	9.7535	0.40490	0.1936:0.4883:0.3181:0.0	.	525	Q9Y5E9	PCDBE_HUMAN	H	372;525	ENSP00000444518:Q372H;ENSP00000239449:Q525H	ENSP00000239449:Q525H	Q	+	3	2	PCDHB14	140584836	0.000000	0.05858	0.002000	0.10522	0.757000	0.42996	-2.831000	0.00743	-1.095000	0.03050	0.556000	0.70494	CAG	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251814.2		+	ENST00000239449.4	Missense_Mutation	SNP	5 : 140604652 - 140604652 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	901	88
LMNB2	84823	broad.mit.edu	37	19	2435154	2435154	+	Missense_Mutation	SNP	G	G	A	rs148936043		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2435154G>A	ENST00000325327.3	-	5	762	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	LMNB2_ENST00000582871.1_Missense_Mutation_p.R214W			Q03252	LMNB2_HUMAN	lamin B2	214	Linker 2.|Rod.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCGCCGCCGCGTCTCCCGC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG	0,4392		0,0,2196	22	25	24		640	2.5	0.3	19	dbSNP_134	24	2,8574		0,2,4286	yes	missense	LMNB2	NM_032737.2	101	0,2,6482	AA,AG,GG	NA	0.0233,0.0,0.0154	probably-damaging	214/601	2435154	2,12966	2196	4288	6484	SO:0001583	missense			M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619	84823	84823		Intermediate filaments type V, lamins	6638	protein-coding gene	gene with protein product		150341		LMN2	NA	1630457	Standard	NM_032737	NM_032737	NA	Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000325327.3:c.700C>T	19.37:g.2435154G>A	ENSP00000327054:p.Arg234Trp	NA	O75292|Q14734|Q96DF6	37	CCDS12090.2	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731514	0.69189	0.0	2.33E-4	ENSG00000176619	ENST00000325327	.	.	.	4.83	2.52	0.30459	Filament (1);	0.000000	0.85682	D	0.000000	T	0.80737	0.4680	M	0.91818	3.245	0.52099	D	0.999947	D	0.89917	1.0	D	0.81914	0.995	D	0.83573	0.0113	9	0.87932	D	0	.	10.8341	0.46677	0.0:0.0:0.4591:0.5409	.	214	Q03252	LMNB2_HUMAN	W	214	.	ENSP00000327054:R214W	R	-	1	2	LMNB2	2386154	0.998000	0.40836	0.348000	0.25681	0.996000	0.88848	2.629000	0.46485	1.011000	0.39340	0.561000	0.74099	CGG	LMNB2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319205.3		-	ENST00000325327.3	Missense_Mutation	SNP	19 : 2435154 - 2435154 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	397	55
BAZ1A	11177	broad.mit.edu	37	14	35245537	35245537	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35245537G>A	ENST00000358716.4	-	17	2892	c.2325C>T	c.(2323-2325)cgC>cgT	p.R775R	BAZ1A_ENST00000382422.2_Silent_p.R807R|BAZ1A_ENST00000360310.1_Silent_p.R807R	NM_182648.1	NP_872589.1	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	807	Interaction with SMARCA5.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		ACATGCGGTCGCGACCCAAGG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	132	132			NA	NA	14		NA											NA				35245537		2203	4300	6503	SO:0001819	synonymous_variant			AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604	11177	11177		Zinc fingers, PHD-type	960	protein-coding gene	gene with protein product		605680			NA	10662543	Standard		NM_013448	NA	Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000358716.4:c.2325C>T	14.37:g.35245537G>A		NA	Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	37	CCDS41943.1																																																																																			BAZ1A-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410004.2		-	ENST00000358716.4	Silent	SNP	14 : 35245537 - 35245537 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	639	108
XPR1	9213	broad.mit.edu	37	1	180793991	180793991	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180793991C>T	ENST00000367590.4	+	8	1064	c.866C>T	c.(865-867)aCg>aTg	p.T289M	XPR1_ENST00000367589.3_Missense_Mutation_p.T289M	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	289						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GGCATCAACACGTATGGTTGG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	145	147			NA	NA	1		NA											NA				180793991		2203	4300	6503	SO:0001583	missense			AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324	9213	9213			12827	protein-coding gene	gene with protein product		605237	xenotropic and polytropic retrovirus receptor		NA	9990033	Standard	NM_004736	NM_004736	NA	Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.866C>T	1.37:g.180793991C>T	ENSP00000356562:p.Thr289Met	NA	O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	37	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365427	0.61513	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T;T	0.42131	0.98;0.98	5.65	5.65	0.86999	EXS, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.35098	0.0920	L	0.28192	0.835	0.80722	D	1	P;P	0.46457	0.878;0.472	B;B	0.40901	0.343;0.094	T	0.08066	-1.0740	10	0.37606	T	0.19	-6.6435	19.315	0.94208	0.0:1.0:0.0:0.0	.	289;289	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	M	289	ENSP00000356562:T289M;ENSP00000356561:T289M	ENSP00000356561:T289M	T	+	2	0	XPR1	179060614	1.000000	0.71417	0.980000	0.43619	0.954000	0.61252	7.338000	0.79269	2.665000	0.90641	0.650000	0.86243	ACG	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084996.2		+	ENST00000367590.4	Missense_Mutation	SNP	1 : 180793991 - 180793991 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	83
RASAL2	9462	broad.mit.edu	37	1	178442331	178442331	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178442331T>G	ENST00000462775.1	+	16	3502	c.3377T>G	c.(3376-3378)cTt>cGt	p.L1126R	RASAL2_ENST00000448150.3_Missense_Mutation_p.L1256R|RASAL2_ENST00000367649.3_Missense_Mutation_p.L1267R	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	1126					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CCCACCAAGCTTTCCATCACG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	138	147			NA	NA	1		NA											NA				178442331		2203	4300	6503	SO:0001583	missense			AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391	9462	9462		Pleckstrin homology (PH) domain containing	9874	protein-coding gene	gene with protein product	Ras GTPase activating protein-like, Ras protein activator like 1	606136			NA	9877179	Standard	NM_170692	NM_004841	NA	Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.3377T>G	1.37:g.178442331T>G	ENSP00000420558:p.Leu1126Arg	NA	O95174|Q5TFU9	37	CCDS1322.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.89|18.89	3.719691|3.719691	0.68844|0.68844	.|.	.|.	ENSG00000075391|ENSG00000075391	ENST00000433130|ENST00000448150;ENST00000367649;ENST00000462775	.|T;T;T	.|0.26660	.|1.72;1.72;1.73	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.48429|0.48429	0.1499|0.1499	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.998	T|T	0.42155|0.42155	-0.9468|-0.9468	5|10	.|0.46703	.|T	.|0.11	.|.	14.7884|14.7884	0.69821|0.69821	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1126;1267	.|Q9UJF2;F8W755	.|NGAP_HUMAN;.	V|R	687|1256;1267;1126	.|ENSP00000407768:L1256R;ENSP00000356621:L1267R;ENSP00000420558:L1126R	.|ENSP00000356621:L1267R	F|L	+|+	1|2	0|0	RASAL2|RASAL2	176708954|176708954	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.930000|7.930000	0.87610|0.87610	2.170000|2.170000	0.68504|0.68504	0.482000|0.482000	0.46254|0.46254	TTT|CTT	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084758.3		+	ENST00000462775.1	Missense_Mutation	SNP	1 : 178442331 - 178442331 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	481	121
PROX1	5629	broad.mit.edu	37	1	214170732	214170732	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214170732A>G	ENST00000366958.4	+	2	1462	c.854A>G	c.(853-855)gAt>gGt	p.D285G	PROX1_ENST00000261454.4_Missense_Mutation_p.D285G|PROX1_ENST00000498508.2_Missense_Mutation_p.D285G|PROX1_ENST00000435016.1_Missense_Mutation_p.D285G	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	285					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GAGATCCTGGATGCCAGGGCC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	67	67			NA	NA	1		NA											NA				214170732		2203	4300	6503	SO:0001583	missense			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707	5629	5629		Homeoboxes / PROS class	9459	protein-coding gene	gene with protein product		601546	prospero-related homeobox 1		NA	8812486	Standard	NM_002763	NM_002763	NA	Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.854A>G	1.37:g.214170732A>G	ENSP00000355925:p.Asp285Gly	NA	A6NK29|A8K2B1|Q5SW76|Q8TB91	37	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	A	8.881	0.951668	0.18431	.	.	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.74	5.74	0.90152	.	0.646468	0.17515	N	0.171458	T	0.42223	0.1193	L	0.43152	1.355	0.54753	D	0.999988	B	0.02656	0.0	B	0.08055	0.003	T	0.21381	-1.0247	10	0.21540	T	0.41	-0.4293	16.0486	0.80740	1.0:0.0:0.0:0.0	.	285	Q92786	PROX1_HUMAN	G	285	ENSP00000420283:D285G;ENSP00000355925:D285G;ENSP00000400694:D285G;ENSP00000261454:D285G	ENSP00000261454:D285G	D	+	2	0	PROX1	212237355	1.000000	0.71417	0.929000	0.37066	0.990000	0.78478	7.327000	0.79147	2.183000	0.69458	0.533000	0.62120	GAT	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089727.6		+	ENST00000366958.4	Missense_Mutation	SNP	1 : 214170732 - 214170732 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	90
GCK	2645	broad.mit.edu	37	7	44187283	44187283	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44187283C>T	ENST00000403799.3	-	7	1298	c.829G>A	c.(829-831)Gtg>Atg	p.V277M	GCK_ENST00000437084.1_Missense_Mutation_p.V260M|GCK_ENST00000345378.2_Missense_Mutation_p.V278M|GCK_ENST00000395796.3_Missense_Mutation_p.V276M	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	277					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CTCTCGTCCACCAGGCGGTCA	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	66	66			NA	NA	7		NA											NA				44187283		2203	4300	6503	SO:0001583	missense			AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2645	2645	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	maturity onset diabetes of the young 2	MODY2	NA	1740341, 1502186	Standard		NM_033507	NA	Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.829G>A	7.37:g.44187283C>T	ENSP00000384247:p.Val277Met	NA	A4D2J2|A4D2J3|Q05810	37	CCDS5479.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.967824	0.92855	.	.	ENSG00000106633	ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17	5.5	5.5	0.81552	Hexokinase, C-terminal (1);	0.121200	0.56097	D	0.000035	D	0.97173	0.9076	L	0.58925	1.835	0.54753	D	0.999986	D;P;P	0.53885	0.963;0.803;0.954	P;P;P	0.58266	0.836;0.532;0.747	D	0.97189	0.9856	10	0.52906	T	0.07	-39.9831	18.9928	0.92800	0.0:1.0:0.0:0.0	.	277;278;276	P35557;P35557-2;P35557-3	HXK4_HUMAN;.;.	M	277;276;278;260	ENSP00000384247:V277M;ENSP00000379142:V276M;ENSP00000223366:V278M;ENSP00000402840:V260M	ENSP00000223366:V278M	V	-	1	0	GCK	44153808	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.954000	0.56708	2.585000	0.87301	0.561000	0.74099	GTG	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251069.2		-	ENST00000403799.3	Missense_Mutation	SNP	7 : 44187283 - 44187283 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	624	26
NCK2	8440	broad.mit.edu	37	2	106509467	106509467	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106509467G>A	ENST00000233154.4	+	5	1420	c.978G>A	c.(976-978)gcG>gcA	p.A326A	NCK2_ENST00000451463.2_3'UTR|NCK2_ENST00000522586.1_3'UTR|NCK2_ENST00000393349.2_Silent_p.A326A	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	326	SH2.				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						CCCTTAAAGCGTCAGGGAAGA	0.557		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	96	85	88		978,,978	-3.8	0.9	2		88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,utr-3,coding-synonymous	NCK2	NM_001004720.2,NM_001004722.3,NM_003581.4	,,	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	,,	326/381,,326/381	106509467	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051	8440	8440		SH2 domain containing	7665	protein-coding gene	gene with protein product		604930			NA	9737977, 16752908	Standard	NM_003581	NM_001004720	NA	Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.978G>A	2.37:g.106509467G>A		NA	D3DVK1|Q9BWN9|Q9UIC3	37	CCDS33266.1																																																																																			NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329634.1		+	ENST00000233154.4	Silent	SNP	2 : 106509467 - 106509467 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	367	103
LMO7	4008	broad.mit.edu	37	13	76379826	76379826	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:76379826G>A	ENST00000321797.8	+	7	1148	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	LMO7_ENST00000465261.2_Missense_Mutation_p.E143K|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000357063.3_Missense_Mutation_p.E428K|LMO7_ENST00000341547.4_Intron|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000377534.3_Missense_Mutation_p.E428K			Q8WWI1	LMO7_HUMAN	LIM domain 7	428	CH.					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TTGGACCCCAGAAGATGTGAA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													277	259	265			NA	NA	13		NA											NA				76379826		1568	3582	5150	SO:0001583	missense			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153	4008	4008			6646	protein-coding gene	gene with protein product	F-box only protein 20	604362	LIM domain only 7	FBXO20	NA	9826547, 10531035	Standard	NM_005358	NM_005358	NA	Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.427G>A	13.37:g.76379826G>A	ENSP00000317802:p.Glu143Lys	NA	O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	37		.	.	.	.	.	.	.	.	.	.	G	31	5.073856	0.94000	.	.	ENSG00000136153	ENST00000357063;ENST00000377534;ENST00000321797;ENST00000465261;ENST00000526371	T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06	6.06	6.06	0.98353	.	0.054132	0.64402	D	0.000001	T	0.77003	0.4067	M	0.62723	1.935	0.54753	D	0.999985	D	0.76494	0.999	P	0.61874	0.895	T	0.75816	-0.3184	10	0.56958	D	0.05	-25.5359	20.6208	0.99490	0.0:0.0:1.0:0.0	.	143	E9PLH4	.	K	428;428;143;143;143	ENSP00000349571:E428K;ENSP00000366757:E428K;ENSP00000317802:E143K;ENSP00000433352:E143K;ENSP00000432269:E143K	ENSP00000317802:E143K	E	+	1	0	LMO7	75277827	1.000000	0.71417	0.991000	0.47740	0.910000	0.53928	8.598000	0.90852	2.882000	0.98803	0.655000	0.94253	GAA	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000045301.3		+	ENST00000321797.8	Missense_Mutation	SNP	13 : 76379826 - 76379826 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1370	217
HSPH1	10808	broad.mit.edu	37	13	31724241	31724241	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:31724241A>T	ENST00000380406.5	-	7	1200	c.864T>A	c.(862-864)caT>caA	p.H288Q	HSPH1_ENST00000429785.2_Missense_Mutation_p.H148Q|HSPH1_ENST00000380405.4_Missense_Mutation_p.H329Q|HSPH1_ENST00000320027.5_Missense_Mutation_p.H329Q|HSPH1_ENST00000445273.2_Missense_Mutation_p.H331Q			Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	329					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CTACTTTGAGATGAGTTTGTT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	134	135			NA	NA	13		NA											NA				31724241		2203	4300	6503	SO:0001583	missense			AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694	10808	10808		Heat shock proteins / HSP70	16969	protein-coding gene	gene with protein product		610703			NA	9610721, 9931472	Standard		XM_005266236	NA	Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000380406.5:c.864T>A	13.37:g.31724241A>T	ENSP00000369769:p.His288Gln	NA	O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	37		.	.	.	.	.	.	.	.	.	.	A	3.487	-0.104751	0.06967	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000429785;ENST00000438061	T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62	5.68	0.836	0.18891	.	0.617569	0.17125	N	0.186070	T	0.10423	0.0255	N	0.02916	-0.46	0.23751	N	0.996945	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.09377	0.004;0.0;0.004;0.0;0.001	T	0.18777	-1.0326	10	0.38643	T	0.18	-0.9598	3.3253	0.07064	0.1111:0.5268:0.1024:0.2596	.	148;288;331;329;329	B4DY72;Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;.;HS105_HUMAN	Q	329;329;288;331;148;380	ENSP00000318687:H329Q;ENSP00000369768:H329Q;ENSP00000369769:H288Q;ENSP00000396090:H331Q;ENSP00000388778:H148Q	ENSP00000318687:H329Q	H	-	3	2	HSPH1	30622241	0.993000	0.37304	0.253000	0.24343	0.000000	0.00434	0.299000	0.19138	0.050000	0.15949	-1.263000	0.01449	CAT	HSPH1-201	KNOWN	basic|exp_conf	protein_coding	NA	protein_coding			-	ENST00000380406.5	Missense_Mutation	SNP	13 : 31724241 - 31724241 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	535	27
MMS19	64210	broad.mit.edu	37	10	99236652	99236652	+	Missense_Mutation	SNP	G	G	A	rs143513996		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99236652G>A	ENST00000438925.2	-	7	897	c.562C>T	c.(562-564)Cgt>Tgt	p.R188C	MMS19_ENST00000483626.1_5'UTR|MMS19_ENST00000370782.2_Missense_Mutation_p.R188C|MMS19_ENST00000327238.10_Missense_Mutation_p.R188C|MMS19_ENST00000327277.7_5'UTR|MMS19_ENST00000355839.6_Intron	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	188					chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		AGAAGATTACGGGGATCCTTT	0.488		NA						Direct reversal of damage						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	115	100	105		562	5.6	1	10	dbSNP_134	105	0,8600		0,0,4300	no	missense	MMS19	NM_022362.4	180	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging	188/1031	99236652	1,13005	2203	4300	6503	SO:0001583	missense			AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229	64210	64210			13824	protein-coding gene	gene with protein product	MET18 homolog (S. cerevisiae)	614777		MMS19L	NA	11071939	Standard		NM_022362	NA	Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.562C>T	10.37:g.99236652G>A	ENSP00000412698:p.Arg188Cys	NA	B0QZ75|D3DR55|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	37	CCDS7464.1	.	.	.	.	.	.	.	.	.	.	G	35	5.430733	0.96150	2.27E-4	0.0	ENSG00000155229	ENST00000438925;ENST00000370782;ENST00000327238;ENST00000422291;ENST00000437002;ENST00000422685	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	5.55	5.55	0.83447	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67363	0.2885	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.75777	-0.3198	10	0.87932	D	0	.	19.4839	0.95022	0.0:0.0:1.0:0.0	.	188;188	Q96T76-5;Q96T76	.;MMS19_HUMAN	C	188;188;188;167;188;227	ENSP00000412698:R188C;ENSP00000359818:R188C;ENSP00000320059:R188C;ENSP00000409425:R188C;ENSP00000391765:R227C	ENSP00000320059:R188C	R	-	1	0	MMS19	99226642	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.423000	0.73361	2.611000	0.88343	0.650000	0.86243	CGT	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049706.2		-	ENST00000438925.2	Missense_Mutation	SNP	10 : 99236652 - 99236652 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	337	68
VPS13C	54832	broad.mit.edu	37	15	62165457	62165457	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:62165457C>A	ENST00000261517.5	-	78	10639	c.10566G>T	c.(10564-10566)aaG>aaT	p.K3522N	VPS13C_ENST00000395896.4_Missense_Mutation_p.K3522N|VPS13C_ENST00000249837.3_Missense_Mutation_p.K3479N|VPS13C_ENST00000395898.3_Missense_Mutation_p.K3479N	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3522					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GCAGAAAGCCCTTTCCTCCTC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	178	179			NA	NA	15		NA											NA				62165457		2203	4300	6503	SO:0001583	missense			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003	54832	54832			23594	protein-coding gene	gene with protein product		608879	vacuolar protein sorting 13C (yeast)		NA		Standard	NM_017684	NM_018080	NA	Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.10566G>T	15.37:g.62165457C>A	ENSP00000261517:p.Lys3522Asn	NA	Q6ISR4|Q702P2|Q702P3|Q709C9|Q9NXN8|Q9P2C6	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544169	0.65198	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.53857	0.6;0.6;0.78	6.02	2.0	0.26442	Autophagy-related, C-terminal (1);	0.050323	0.85682	D	0.000000	T	0.66356	0.2781	M	0.71036	2.16	0.80722	D	1	D;D;D;D	0.76494	0.995;0.997;0.999;0.998	D;D;D;D	0.76575	0.972;0.972;0.988;0.984	T	0.63301	-0.6668	10	0.39692	T	0.17	.	10.0938	0.42462	0.0:0.5936:0.0:0.4064	.	3479;3522;3479;3522	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	N	3479;3522;3522;3522	ENSP00000249837:K3479N;ENSP00000261517:K3522N;ENSP00000379233:K3522N	ENSP00000249837:K3479N	K	-	3	2	VPS13C	59952749	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	1.282000	0.33226	0.423000	0.26033	0.655000	0.94253	AAG	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415997.1		-	ENST00000261517.5	Missense_Mutation	SNP	15 : 62165457 - 62165457 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1002	231
COL6A6	131873	broad.mit.edu	37	3	130285742	130285742	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130285742C>A	ENST00000358511.6	+	4	1510	c.1479C>A	c.(1477-1479)taC>taA	p.Y493*	COL6A6_ENST00000453409.2_Nonsense_Mutation_p.Y493*	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	493	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCAATAAATACTCCAACAAGC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	113	113			NA	NA	3		NA											NA				130285742		1909	4120	6029	SO:0001587	stop_gained			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384	131873	131873		Collagens	27023	protein-coding gene	gene with protein product					NA		Standard	NM_001102608	NM_001102608	NA	Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.1479C>A	3.37:g.130285742C>A	ENSP00000351310:p.Tyr493*	NA	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	37	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	C	36	5.822826	0.96989	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	.	.	.	5.18	1.37	0.22104	.	0.000000	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.033	0.36271	0.0:0.6915:0.0:0.3085	.	.	.	.	X	493	.	ENSP00000351310:Y493X	Y	+	3	2	COL6A6	131768432	0.091000	0.21658	0.011000	0.14972	0.541000	0.35023	0.641000	0.24720	-0.033000	0.13736	-0.254000	0.11334	TAC	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356705.5		+	ENST00000358511.6	Nonsense_Mutation	SNP	3 : 130285742 - 130285742 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	621	125
NUDT17	200035	broad.mit.edu	37	1	145587350	145587350	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145587350G>A	ENST00000334513.5	-	6	741	c.730C>T	c.(730-732)Ctt>Ttt	p.L244F		NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 17	244							hydrolase activity|metal ion binding			endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTTACTTACAGGACAGAGGGT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	66	66			NA	NA	1		NA											NA				145587350		2203	4300	6503	SO:0001630	splice_region_variant			BC046352	CCDS72865.1	1q21.1	2008-02-05			ENSG00000186364	ENSG00000186364	200035	200035		Nudix motif containing	26618	protein-coding gene	gene with protein product					NA	12477932	Standard	XM_496395	NM_001012758	NA	Approved	FLJ34433	uc001eoe.3	P0C025	OTTHUMG00000013752	ENST00000334513.5:c.731+1C>T	1.37:g.145587350G>A		NA		37	CCDS30830.1	.	.	.	.	.	.	.	.	.	.	G	4.913	0.169640	0.09339	.	.	ENSG00000186364	ENST00000334513	.	.	.	4.84	0.521	0.17046	.	1.078730	0.07151	N	0.849176	T	0.08891	0.0220	L	0.36672	1.1	0.09310	N	1	B	0.33379	0.41	B	0.32465	0.146	T	0.32798	-0.9893	9	0.23302	T	0.38	9.6337	2.9457	0.05845	0.091:0.149:0.3038:0.4563	.	244	P0C025	NUD17_HUMAN	F	244	.	ENSP00000334437:L244F	L	-	1	0	NUDT17	144298707	0.002000	0.14202	0.019000	0.16419	0.939000	0.58152	0.317000	0.19487	-0.057000	0.13199	0.655000	0.94253	CTT	NUDT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000038541.3	Missense_Mutation	-	ENST00000334513.5	Splice_Site	SNP	1 : 145587350 - 145587350 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	336	92
TLL2	7093	broad.mit.edu	37	10	98188430	98188430	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98188430G>A	ENST00000357947.3	-	5	821	c.596C>T	c.(595-597)aCg>aTg	p.T199M	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	199	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TTCCTCATCCGTCCTTTCTAT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	115	123			NA	NA	10		NA											NA				98188430		2203	4300	6503	SO:0001583	missense			AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587	7093	7093			11844	protein-coding gene	gene with protein product		606743			NA	10516436	Standard		NM_012465	NA	Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.596C>T	10.37:g.98188430G>A	ENSP00000350630:p.Thr199Met	NA	A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	37	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148195	0.78001	.	.	ENSG00000095587	ENST00000357947	T	0.66099	-0.19	5.67	5.67	0.87782	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.000000	0.45126	D	0.000396	T	0.70666	0.3250	M	0.79343	2.45	0.80722	D	1	P	0.49358	0.923	P	0.45881	0.496	T	0.75587	-0.3266	10	0.66056	D	0.02	.	18.8134	0.92068	0.0:0.0:1.0:0.0	.	199	Q9Y6L7	TLL2_HUMAN	M	199	ENSP00000350630:T199M	ENSP00000350630:T199M	T	-	2	0	TLL2	98178420	1.000000	0.71417	0.960000	0.40013	0.621000	0.37620	7.856000	0.86956	2.676000	0.91093	0.650000	0.86243	ACG	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049608.1		-	ENST00000357947.3	Missense_Mutation	SNP	10 : 98188430 - 98188430 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	415	58
RYR1	6261	broad.mit.edu	37	19	38976414	38976414	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38976414C>T	ENST00000355481.4	+	34	5250	c.5119C>T	c.(5119-5121)Cgc>Tgc	p.R1707C	RYR1_ENST00000359596.3_Missense_Mutation_p.R1707C|RYR1_ENST00000360985.3_Missense_Mutation_p.R1707C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1707	6 X approximate repeats.				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)	AGGCCCACTGCGCGCAGGCTA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	59	59			NA	NA	19		NA											NA				38976414		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.5119C>T	19.37:g.38976414C>T	ENSP00000347667:p.Arg1707Cys	NA	Q16314|Q16368|Q9NPK1|Q9P1U4	37	CCDS42563.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987909	0.35036	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.74842	-0.88;-0.88;-0.88	3.98	2.87	0.33458	.	0.000000	0.64402	U	0.000007	D	0.86590	0.5969	M	0.87180	2.865	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.89280	0.3611	10	0.87932	D	0	.	13.7048	0.62631	0.165:0.835:0.0:0.0	.	1707;1707	P21817-2;P21817	.;RYR1_HUMAN	C	1707	ENSP00000352608:R1707C;ENSP00000347667:R1707C;ENSP00000354254:R1707C	ENSP00000347667:R1707C	R	+	1	0	RYR1	43668254	1.000000	0.71417	0.935000	0.37517	0.263000	0.26337	4.695000	0.61767	2.048000	0.60808	0.585000	0.79938	CGC	RYR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461017.2		+	ENST00000355481.4	Missense_Mutation	SNP	19 : 38976414 - 38976414 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	478	107
CACNG1	786	broad.mit.edu	37	17	65051341	65051341	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65051341T>G	ENST00000226021.3	+	3	498	c.427T>G	c.(427-429)Ttc>Gtc	p.F143V		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1	143					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)	CGCGTCCATGTTCTATGCCTT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	72	78			NA	NA	17		NA											NA				65051341		2203	4300	6503	SO:0001583	missense			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.427T>G	17.37:g.65051341T>G	ENSP00000226021:p.Phe143Val	NA	B2R9N3|Q14D59	37	CCDS11668.1	.	.	.	.	.	.	.	.	.	.	T	15.08	2.727081	0.48833	.	.	ENSG00000108878	ENST00000226021	T	0.67171	-0.25	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.81767	0.4892	M	0.83852	2.665	0.80722	D	1	D	0.67145	0.996	D	0.70227	0.968	T	0.82566	-0.0393	10	0.38643	T	0.18	.	14.9508	0.71071	0.0:0.0:0.0:1.0	.	143	Q06432	CCG1_HUMAN	V	143	ENSP00000226021:F143V	ENSP00000226021:F143V	F	+	1	0	CACNG1	62481803	1.000000	0.71417	1.000000	0.80357	0.039000	0.13416	7.988000	0.88194	1.944000	0.56390	0.379000	0.24179	TTC	CACNG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447039.1		+	ENST00000226021.3	Missense_Mutation	SNP	17 : 65051341 - 65051341 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	311	18
FAM83H	286077	broad.mit.edu	37	8	144812742	144812742	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144812742C>T	ENST00000388913.3	-	2	136	c.11G>A	c.(10-12)cGc>cAc	p.R4H		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	4					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCTCTGAGAGCGACGGGCCAT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	12	12			NA	NA	8		NA											NA				144812742		1901	3931	5832	SO:0001583	missense			AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921	286077	286077			24797	protein-coding gene	gene with protein product		611927			NA	18252228	Standard	NM_198488	NM_198488	NA	Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.11G>A	8.37:g.144812742C>T	ENSP00000373565:p.Arg4His	NA	A0JLS2|Q8N4W0	37	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	c	31	5.103443	0.94245	.	.	ENSG00000180921	ENST00000388913	T	0.31769	1.48	4.62	4.62	0.57501	.	0.238609	0.34314	N	0.004066	T	0.53802	0.1819	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.58526	-0.7621	10	0.87932	D	0	.	16.8086	0.85712	0.0:1.0:0.0:0.0	.	4	Q6ZRV2	FA83H_HUMAN	H	4	ENSP00000373565:R4H	ENSP00000373565:R4H	R	-	2	0	FAM83H	144884730	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.719000	0.68462	2.285000	0.76669	0.478000	0.44815	CGC	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257632.2		-	ENST00000388913.3	Missense_Mutation	SNP	8 : 144812742 - 144812742 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	163	23
CKAP4	10970	broad.mit.edu	37	12	106633726	106633726	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:106633726C>A	ENST00000378026.4	-	2	1021	c.885G>T	c.(883-885)gaG>gaT	p.E295D	CKAP4_ENST00000552828.1_5'UTR	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	295						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						AGGTCTGTATCTCCTTCACAG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	149	148			NA	NA	12		NA											NA				106633726		2203	4300	6503	SO:0001583	missense			X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026	10970	10970			16991	protein-coding gene	gene with protein product					NA	8314870	Standard		NM_006825	NA	Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.885G>T	12.37:g.106633726C>A	ENSP00000367265:p.Glu295Asp	NA	Q504S5|Q53ES6	37	CCDS9103.1	.	.	.	.	.	.	.	.	.	.	C	9.626	1.135179	0.21123	.	.	ENSG00000136026	ENST00000378026	T	0.81415	-1.49	5.54	0.0734	0.14390	.	0.267058	0.41823	D	0.000806	D	0.82756	0.5106	M	0.75264	2.295	0.23138	N	0.998234	D	0.55385	0.971	P	0.55749	0.783	T	0.73920	-0.3830	10	0.35671	T	0.21	-5.3382	8.4601	0.32923	0.0:0.6124:0.1457:0.2418	.	295	Q07065	CKAP4_HUMAN	D	295	ENSP00000367265:E295D	ENSP00000367265:E295D	E	-	3	2	CKAP4	105157856	0.003000	0.15002	0.052000	0.19188	0.711000	0.40976	-0.444000	0.06854	-0.221000	0.09973	-0.253000	0.11424	GAG	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407196.1		-	ENST00000378026.4	Missense_Mutation	SNP	12 : 106633726 - 106633726 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	919	163
EPHA4	2043	broad.mit.edu	37	2	222294720	222294720	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:222294720C>T	ENST00000409854.1	-	15	2682	c.2648G>A	c.(2647-2649)cGc>cAc	p.R883H	EPHA4_ENST00000409938.1_Missense_Mutation_p.R883H|EPHA4_ENST00000281821.2_Missense_Mutation_p.R883H|EPHA4_ENST00000392071.4_Missense_Mutation_p.R832H			P54764	EPHA4_HUMAN	EPH receptor A4	883						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GTTGGGGTTGCGGATGAGTTT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													191	187	188			NA	NA	2		NA											NA				222294720		2203	4300	6503	SO:0001583	missense			L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2043	2043	2.7.10.1	EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3388	protein-coding gene	gene with protein product		602188	EphA4	TYRO1	NA	9267020	Standard		NM_004438	NA	Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000409854.1:c.2648G>A	2.37:g.222294720C>T	ENSP00000386276:p.Arg883His	NA	Q2M380	37		.	.	.	.	.	.	.	.	.	.	C	29.3	4.994878	0.93167	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	5.89	5.89	0.94794	Protein kinase-like domain (1);	0.097095	0.64402	D	0.000001	T	0.76737	0.4029	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.76366	-0.2985	10	0.66056	D	0.02	.	20.3344	0.98733	0.0:1.0:0.0:0.0	.	883	P54764	EPHA4_HUMAN	H	883;883;883;832	ENSP00000281821:R883H;ENSP00000386276:R883H;ENSP00000386829:R883H;ENSP00000375923:R832H	ENSP00000281821:R883H	R	-	2	0	EPHA4	222002964	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.087000	0.71362	2.822000	0.97130	0.650000	0.86243	CGC	EPHA4-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000332696.2		-	ENST00000409854.1	Missense_Mutation	SNP	2 : 222294720 - 222294720 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	969	139
COMMD8	54951	broad.mit.edu	37	4	47458637	47458637	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47458637G>T	ENST00000381571.4	-	3	399	c.332C>A	c.(331-333)gCt>gAt	p.A111D		NM_017845.3	NP_060315.1	Q9NX08	COMD8_HUMAN	COMM domain containing 8	111							protein binding			large_intestine(2)|lung(5)|prostate(1)	8						AGAGGAAATAGCAACTATTTC	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	178	175			NA	NA	4		NA											NA				47458637		2203	4300	6503	SO:0001583	missense			AY542163	CCDS3475.1	4p12	2008-02-05			ENSG00000169019	ENSG00000169019	54951	54951			26036	protein-coding gene	gene with protein product					NA	15799966	Standard	NM_017845	NM_017845	NA	Approved	FLJ20502	uc003gxi.3	Q9NX08	OTTHUMG00000099435	ENST00000381571.4:c.332C>A	4.37:g.47458637G>T	ENSP00000370984:p.Ala111Asp	NA	Q8WUR4|Q9HC15	37	CCDS3475.1	.	.	.	.	.	.	.	.	.	.	G	2.687	-0.273965	0.05679	.	.	ENSG00000169019	ENST00000381571	T	0.09255	3.0	5.82	-2.66	0.06077	.	0.478103	0.26007	N	0.026901	T	0.04634	0.0126	N	0.16903	0.455	0.30636	N	0.756965	B	0.13594	0.008	B	0.16289	0.015	T	0.45264	-0.9273	10	0.09338	T	0.73	-15.396	9.0728	0.36502	0.0:0.2362:0.544:0.2199	.	111	Q9NX08	COMD8_HUMAN	D	111	ENSP00000370984:A111D	ENSP00000370984:A111D	A	-	2	0	COMMD8	47153394	0.828000	0.29307	0.959000	0.39883	0.793000	0.44817	0.370000	0.20433	-0.359000	0.08150	-0.410000	0.06199	GCT	COMMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216898.2		-	ENST00000381571.4	Missense_Mutation	SNP	4 : 47458637 - 47458637 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	725	18
XIRP1	165904	broad.mit.edu	37	3	39225970	39225970	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39225970G>T	ENST00000340369.3	-	2	5195	c.4967C>A	c.(4966-4968)cCt>cAt	p.P1656H	XIRP1_ENST00000421646.1_Missense_Mutation_p.P339H|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1656							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AACCCGAGGAGGGCACAAATA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	95	97			NA	NA	3		NA											NA				39225970		2203	4300	6503	SO:0001583	missense			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334	165904	165904			14301	protein-coding gene	gene with protein product		609777	cardiomyopathy associated 1	CMYA1	NA	12203715, 15454575	Standard	XM_093522	NM_001198621	NA	Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.4967C>A	3.37:g.39225970G>T	ENSP00000343140:p.Pro1656His	NA	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	37	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	4.719	0.133681	0.09032	.	.	ENSG00000168334	ENST00000340369;ENST00000421646	T;T	0.17213	3.98;2.29	4.75	2.33	0.28932	.	1.456000	0.05177	U	0.500616	T	0.07999	0.0200	N	0.08118	0	0.09310	N	1	P	0.47034	0.889	B	0.33846	0.171	T	0.24977	-1.0145	10	0.44086	T	0.13	.	6.6259	0.22828	0.801:0.0:0.199:0.0	.	1656	Q702N8	XIRP1_HUMAN	H	1656;339	ENSP00000343140:P1656H;ENSP00000391645:P339H	ENSP00000343140:P1656H	P	-	2	0	XIRP1	39200974	1.000000	0.71417	0.102000	0.21198	0.099000	0.18886	3.498000	0.53302	0.286000	0.22352	-0.294000	0.09567	CCT	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254065.1		-	ENST00000340369.3	Missense_Mutation	SNP	3 : 39225970 - 39225970 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	460	19
SPEN	23013	broad.mit.edu	37	1	16254623	16254623	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16254623C>T	ENST00000375759.3	+	11	2092	c.1888C>T	c.(1888-1890)Cgt>Tgt	p.R630C		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	630	Arg-rich.|Tyr-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TAACCAAGATCGTACATATTA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	80	80			NA	NA	1		NA											NA				16254623		2203	4300	6503	SO:0001583	missense				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526	23013	23013		RNA binding motif (RRM) containing	17575	protein-coding gene	gene with protein product		613484	SPEN homolog, transcriptional regulator (Drosophila), spen homolog, transcriptional regulator (Drosophila)		NA	10451362, 11331609	Standard	NM_015001	NM_015001	NA	Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.1888C>T	1.37:g.16254623C>T	ENSP00000364912:p.Arg630Cys	NA	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013004	0.54468	.	.	ENSG00000065526	ENST00000375759	T	0.12039	2.72	4.54	4.54	0.55810	.	.	.	.	.	T	0.28566	0.0707	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.03898	-1.0994	9	0.72032	D	0.01	-7.2375	17.8431	0.88720	0.0:1.0:0.0:0.0	.	630	Q96T58	MINT_HUMAN	C	630	ENSP00000364912:R630C	ENSP00000364912:R630C	R	+	1	0	SPEN	16127210	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	4.465000	0.60141	2.514000	0.84764	0.563000	0.77884	CGT	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025993.1		+	ENST00000375759.3	Missense_Mutation	SNP	1 : 16254623 - 16254623 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	499	102
PLXNA3	55558	broad.mit.edu	37	X	153692584	153692584	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153692584C>A	ENST00000369682.3	+	8	1931	c.1756C>A	c.(1756-1758)Ctg>Atg	p.L586M		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	586					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGAGGCGGTCCTGCTGCCCTC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	25	26			NA	NA	X		NA											NA				153692584		2195	4295	6490	SO:0001583	missense			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827	55558	55558		Plexins	9101	protein-coding gene	gene with protein product		300022		PLXN4	NA	8248200, 8733135	Standard	NM_017514	NM_017514	NA	Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.1756C>A	X.37:g.153692584C>A	ENSP00000358696:p.Leu586Met	NA	Q5HY36	37	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.302047	0.23736	.	.	ENSG00000130827	ENST00000369682	T	0.00995	5.46	5.51	5.51	0.81932	.	0.581307	0.18180	N	0.149177	T	0.01940	0.0061	L	0.53249	1.67	0.31420	N	0.674375	B	0.33212	0.402	B	0.40199	0.322	T	0.23547	-1.0185	10	0.34782	T	0.22	.	12.8614	0.57915	0.0:0.8401:0.1599:0.0	.	586	P51805	PLXA3_HUMAN	M	586	ENSP00000358696:L586M	ENSP00000358696:L586M	L	+	1	2	PLXNA3	153345778	0.000000	0.05858	0.998000	0.56505	0.157000	0.22087	0.001000	0.13038	2.295000	0.77249	0.597000	0.82753	CTG	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000081634.1		+	ENST00000369682.3	Missense_Mutation	SNP	X : 153692584 - 153692584 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	102	28
OTOR	56914	broad.mit.edu	37	20	16729634	16729634	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:16729634G>T	ENST00000246081.2	+	2	282	c.238G>T	c.(238-240)Gaa>Taa	p.E80*		NM_020157.2	NP_064542.1	Q9NRC9	OTOR_HUMAN	otoraplin	80	SH3.				sensory perception of sound	extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						TGGAGCTGGAGAATTTTGGGC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	65	64			NA	NA	20		NA											NA				16729634		2203	4300	6503	SO:0001587	stop_gained			AF233261	CCDS13124.1	20p12.1-p11.23	2005-11-14			ENSG00000125879	ENSG00000125879	56914	56914			8517	protein-coding gene	gene with protein product		606067			NA	10873378	Standard		NM_020157	NA	Approved	MIAL, MIAL1, FDP	uc002wpj.3	Q9NRC9	OTTHUMG00000031931	ENST00000246081.2:c.238G>T	20.37:g.16729634G>T	ENSP00000246081:p.Glu80*	NA	D3DW22|Q3MIU6	37	CCDS13124.1	.	.	.	.	.	.	.	.	.	.	G	37	6.444330	0.97572	.	.	ENSG00000125879	ENST00000246081	.	.	.	5.93	5.93	0.95920	.	0.108254	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-33.135	18.5344	0.91004	0.0:0.0:1.0:0.0	.	.	.	.	X	80	.	ENSP00000246081:E80X	E	+	1	0	OTOR	16677634	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.069000	0.89491	2.826000	0.97356	0.655000	0.94253	GAA	OTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078108.2		+	ENST00000246081.2	Nonsense_Mutation	SNP	20 : 16729634 - 16729634 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	66
EHMT2	10919	broad.mit.edu	37	6	31851172	31851172	+	Silent	SNP	G	G	A	rs148424397	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31851172G>A	ENST00000395728.3	-	22	3131	c.3132C>T	c.(3130-3132)tgC>tgT	p.C1044C	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Silent_p.C1010C|EHMT2_ENST00000375530.4_Silent_p.C953C|EHMT2_ENST00000375537.4_Silent_p.C987C			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	987	SET.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TGAGCTGGCCGCACAGGCAGT	0.632		NA											G	5	0.0023	NA	0.01	2184	NA	0.9989	,	,	NA	5e-04	0.0026	NA	NA	0.0023	0.8131	LOWCOV	NA	NA	2e-04	SNP								NA				0								G	,	0,3018		0,0,1509	51	39	43		2961,2859	-9	0.7	6	dbSNP_134	43	8,5410		0,8,2701	yes	coding-synonymous,coding-synonymous	EHMT2	NM_006709.3,NM_025256.5	,	0,8,4210	AA,AG,GG	NA	0.1477,0.0,0.0948	,	987/1211,953/1177	31851172	8,8428	1509	2709	4218	SO:0001819	synonymous_variant			AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	10919	10919	2.1.1.43	Chromatin-modifying enzymes / K-methyltransferases, Ankyrin repeat domain containing	14129	protein-coding gene	gene with protein product		604599	chromosome 6 open reading frame 30, HLA-B associated transcript 8	C6orf30, BAT8	NA	8457211, 11316813	Standard	NM_006709	XM_005274833	NA	Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000395728.3:c.3132C>T	6.37:g.31851172G>A		NA	B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	37																																																																																				EHMT2-008	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000268526.1		-	ENST00000395728.3	Silent	SNP	6 : 31851172 - 31851172 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	151	11
EFHD2	79180	broad.mit.edu	37	1	15753776	15753776	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15753776C>T	ENST00000375980.4	+	3	664	c.587C>T	c.(586-588)gCc>gTc	p.A196V		NM_024329.5	NP_077305.2	Q96C19	EFHD2_HUMAN	EF-hand domain family, member D2	196						membrane raft				large_intestine(1)|skin(1)	2		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTTTGAGGCCAAGGTGAGG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	27	27			NA	NA	1		NA											NA				15753776		2203	4299	6502	SO:0001583	missense			BC014923	CCDS155.1	1p36	2014-07-01	2005-01-25		ENSG00000142634	ENSG00000142634	79180	79180		EF-hand domain containing	28670	protein-coding gene	gene with protein product	swiprosin-1		EF hand domain containing 2		NA	21244694	Standard	NM_024329	NM_024329	NA	Approved	MGC4342	uc001awh.2	Q96C19	OTTHUMG00000002254	ENST00000375980.4:c.587C>T	1.37:g.15753776C>T	ENSP00000365147:p.Ala196Val	NA	Q5JYW9	37	CCDS155.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120565	0.77323	.	.	ENSG00000142634	ENST00000375980;ENST00000375975	T	0.47528	0.84	4.07	4.07	0.47477	.	0.059184	0.64402	D	0.000003	T	0.72244	0.3436	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79269	-0.1873	10	0.87932	D	0	-25.3155	15.7247	0.77747	0.0:1.0:0.0:0.0	.	196	Q96C19	EFHD2_HUMAN	V	196;97	ENSP00000365147:A196V	ENSP00000365142:A97V	A	+	2	0	EFHD2	15626363	1.000000	0.71417	1.000000	0.80357	0.296000	0.27459	7.780000	0.85658	2.209000	0.71365	0.561000	0.74099	GCC	EFHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006433.1		+	ENST00000375980.4	Missense_Mutation	SNP	1 : 15753776 - 15753776 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	50	5
WDR3	10885	broad.mit.edu	37	1	118501532	118501532	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118501532G>T	ENST00000349139.5	+	26	2629		c.e26-1		SPAG17_ENST00000336338.5_Intron	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	NA						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TTTTCTATCAGGATTCACTTT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	81	82			NA	NA	1		NA											NA				118501532		2203	4300	6503	SO:0001630	splice_region_variant			AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183	10885	10885		WD repeat domain containing	12755	protein-coding gene	gene with protein product		604737			NA	10395803	Standard	NM_006784	NM_006784	NA	Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.2583-1G>T	1.37:g.118501532G>T		NA		37	CCDS898.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474166	0.63737	.	.	ENSG00000065183	ENST00000349139	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6756	0.95930	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR3	118303055	1.000000	0.71417	0.999000	0.59377	0.558000	0.35554	9.330000	0.96422	2.664000	0.90586	0.543000	0.68304	.	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033720.2	Intron	+	ENST00000349139.5	Splice_Site	SNP	1 : 118501532 - 118501532 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	27
KIT	3815	broad.mit.edu	37	4	55597497	55597497	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55597497C>T	ENST00000288135.5	+	15	2242	c.2145C>T	c.(2143-2145)agC>agT	p.S715S		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	715	Protein kinase.		S -> N (in dbSNP:rs56094246).		male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.S715del(7)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCCCAGCAGCGATAGTACTA	0.458		1	Mis, O		GIST, AML, TGCT, mastocytosis, mucosal melanoma	GIST, epithelioma	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				C	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	4e-04	0.95	LOWCOV	NA	NA	4e-04	SNP		yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	L, M, O, E	7	Deletion - In frame(7)	soft_tissue(7)											110	102	105			NA	NA	4		NA											NA				55597497		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404	3815	3815		CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	6342	protein-coding gene	gene with protein product		164920	piebald trait	PBT	NA	9027509	Standard		NM_001093772	NA	Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2145C>T	4.37:g.55597497C>T		NA	Q99662|Q9UM99	37	CCDS3496.1																																																																																			KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250618.1		+	ENST00000288135.5	Silent	SNP	4 : 55597497 - 55597497 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	243	37
C17orf80	55028	broad.mit.edu	37	17	71233036	71233036	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71233036A>G	ENST00000268942.8	+	3	1609	c.1415A>G	c.(1414-1416)tAc>tGc	p.Y472C	C17orf80_ENST00000426147.2_Missense_Mutation_p.Y472C|C17orf80_ENST00000255557.4_Missense_Mutation_p.Y472C|C17orf80_ENST00000359042.2_Missense_Mutation_p.Y472C|C17orf80_ENST00000577615.1_Missense_Mutation_p.Y472C|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000535032.2_Missense_Mutation_p.Y472C	NM_001100621.1	NP_001094091	Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	472						integral to membrane				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			TATCCTGGTTACCTTGGACTA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	50	49			NA	NA	17		NA											NA				71233036		2203	4300	6503	SO:0001583	missense			AY163812	CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1	17q25.1	2012-02-24	2012-02-24	2012-02-24	ENSG00000141219	ENSG00000141219	55028	55028			29601	protein-coding gene	gene with protein product	sperm-expressed protein 1, migration-inducing protein 3				NA	12477932	Standard	NM_017941	NM_017941	NA	Approved	HLC-8, MIG3, FLJ20721, SPEP1	uc002jjl.4	Q9BSJ5		ENST00000268942.8:c.1415A>G	17.37:g.71233036A>G	ENSP00000268942:p.Tyr472Cys	NA	A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	37	CCDS42377.1	.	.	.	.	.	.	.	.	.	.	A	19.91	3.913766	0.72983	.	.	ENSG00000141219	ENST00000255557;ENST00000359042;ENST00000268942;ENST00000426147;ENST00000535032	T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32	5.29	5.29	0.74685	.	0.000000	0.46758	D	0.000263	T	0.40909	0.1136	M	0.71581	2.175	0.40242	D	0.977972	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.37174	-0.9717	10	0.72032	D	0.01	-8.7091	13.2035	0.59782	1.0:0.0:0.0:0.0	.	472;472;472;472	B7Z7E5;Q9BSJ5;Q9BSJ5-2;Q9BSJ5-3	.;CQ080_HUMAN;.;.	C	472	ENSP00000255557:Y472C;ENSP00000351937:Y472C;ENSP00000268942:Y472C;ENSP00000396970:Y472C;ENSP00000440551:Y472C	ENSP00000255557:Y472C	Y	+	2	0	C17orf80	68744631	0.983000	0.35010	0.966000	0.40874	0.970000	0.65996	3.727000	0.54984	1.998000	0.58463	0.533000	0.62120	TAC	C17orf80-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000441890.1		+	ENST00000268942.8	Missense_Mutation	SNP	17 : 71233036 - 71233036 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	302	50
ADAM29	11086	broad.mit.edu	37	4	175898652	175898652	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:175898652G>T	ENST00000359240.3	+	5	2646	c.1976G>T	c.(1975-1977)gGa>gTa	p.G659V	ADAM29_ENST00000445694.1_Missense_Mutation_p.G659V|ADAM29_ENST00000404450.4_Missense_Mutation_p.G659V|ADAM29_ENST00000514159.1_Missense_Mutation_p.G659V	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	659					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AAAGGCTATGGAGGTAGTGTT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(140;1727 1835 21805 25838 41440)							NA				0													45	45	45			NA	NA	4		NA											NA				175898652		2203	4300	6503	SO:0001583	missense			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594	11086	11086		ADAM metallopeptidase domain containing	207	protein-coding gene	gene with protein product	cancer/testis antigen 73	604778	a disintegrin and metalloproteinase domain 29		NA	10644455	Standard		NM_014269	NA	Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1976G>T	4.37:g.175898652G>T	ENSP00000352177:p.Gly659Val	NA	Q9UHP1|Q9UKF3|Q9UKF4	37	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497916	0.44455	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37	3.32	3.32	0.38043	.	0.000000	0.34362	U	0.004024	D	0.89022	0.6597	M	0.84219	2.685	0.52501	D	0.999954	D	0.89917	1.0	D	0.87578	0.998	D	0.89814	0.3984	9	.	.	.	.	12.9119	0.58184	0.0:0.0:1.0:0.0	.	659	Q9UKF5	ADA29_HUMAN	V	659	ENSP00000352177:G659V;ENSP00000414544:G659V;ENSP00000384229:G659V;ENSP00000423517:G659V	.	G	+	2	0	ADAM29	176135227	1.000000	0.71417	0.984000	0.44739	0.355000	0.29361	7.100000	0.76989	2.150000	0.67090	0.643000	0.83706	GGA	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding			+	ENST00000359240.3	Missense_Mutation	SNP	4 : 175898652 - 175898652 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	254	25
ASPHD2	57168	broad.mit.edu	37	22	26830336	26830336	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26830336G>A	ENST00000215906.5	+	2	1193	c.755G>A	c.(754-756)cGc>cAc	p.R252H		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	252					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						CGGACGTACCGCTTGCTCGGA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	148	151			NA	NA	22		NA											NA				26830336		2203	4300	6503	SO:0001583	missense			AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203	57168	57168			30437	protein-coding gene	gene with protein product					NA		Standard	NM_020437	NM_020437	NA	Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.755G>A	22.37:g.26830336G>A	ENSP00000215906:p.Arg252His	NA	B2RCH3|Q7L0W3|Q9NSN3	37	CCDS13834.2	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652026	0.88056	.	.	ENSG00000128203	ENST00000215906	T	0.42900	0.96	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.65207	0.2669	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67256	-0.5716	10	0.51188	T	0.08	-44.4226	17.0945	0.86631	0.0:0.0:1.0:0.0	.	252	Q6ICH7	ASPH2_HUMAN	H	252	ENSP00000215906:R252H	ENSP00000215906:R252H	R	+	2	0	ASPHD2	25160336	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.808000	0.91939	2.498000	0.84270	0.557000	0.71058	CGC	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320422.1		+	ENST00000215906.5	Missense_Mutation	SNP	22 : 26830336 - 26830336 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	693	136
CHSY3	337876	broad.mit.edu	37	5	129244046	129244046	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:129244046C>A	ENST00000305031.4	+	2	1437	c.1079C>A	c.(1078-1080)tCt>tAt	p.S360Y	CHSY3_ENST00000507545.1_3'UTR	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	360						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TGTGTCTGGTCTTACGAGGTA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	134	140			NA	NA	5		NA											NA				129244046		2203	4300	6503	SO:0001583	missense			AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	337876	337876	2.4.1.175, 2.4.1.226	Beta 3-glycosyltransferases, Beta 4-glycosyltransferases	24293	protein-coding gene	gene with protein product		609963			NA	12907687	Standard	NM_175856	XM_005271982	NA	Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1079C>A	5.37:g.129244046C>A	ENSP00000302629:p.Ser360Tyr	NA	B2RP97|Q76L22|Q86Y52	37	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399658	0.83120	.	.	ENSG00000198108	ENST00000305031	D	0.85013	-1.93	4.22	4.22	0.49857	.	0.205916	0.24662	N	0.036634	D	0.89511	0.6736	M	0.76574	2.34	0.80722	D	1	D	0.56287	0.975	P	0.53722	0.733	D	0.89718	0.3917	9	.	.	.	0.0434	17.8917	0.88874	0.0:1.0:0.0:0.0	.	360	Q70JA7	CHSS3_HUMAN	Y	360	ENSP00000302629:S360Y	.	S	+	2	0	CHSY3	129271945	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.609000	0.82925	2.645000	0.89757	0.591000	0.81541	TCT	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000371453.1		+	ENST00000305031.4	Missense_Mutation	SNP	5 : 129244046 - 129244046 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	267	49
MIPOL1	145282	broad.mit.edu	37	14	38016120	38016120	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38016120C>T	ENST00000327441.7	+	14	1739	c.1273C>T	c.(1273-1275)Ctg>Ttg	p.L425L	MIPOL1_ENST00000396294.2_Silent_p.L425L|MIPOL1_ENST00000537471.1_Silent_p.L425L|MIPOL1_ENST00000539062.2_Silent_p.L394L|MIPOL1_ENST00000536774.1_Silent_p.L244L	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	425										breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		GTTGGAAAGGCTGGTGGATGT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	102	105			NA	NA	14		NA											NA				38016120		2203	4300	6503	SO:0001819	synonymous_variant			AY059470	CCDS9664.1	14q13.3	2010-05-25			ENSG00000151338	ENSG00000151338	145282	145282			21460	protein-coding gene	gene with protein product		606850			NA	11954550, 19667180	Standard	NM_138731	NM_001195296	NA	Approved		uc001wuc.3	Q8TD10	OTTHUMG00000140252	ENST00000327441.7:c.1273C>T	14.37:g.38016120C>T		NA	D3DSA4|Q7Z3J0|Q8IV14	37	CCDS9664.1																																																																																			MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276734.1		+	ENST00000327441.7	Silent	SNP	14 : 38016120 - 38016120 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	154	23
PLK2	10769	broad.mit.edu	37	5	57753328	57753328	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:57753328G>A	ENST00000274289.3	-	6	1096	c.796C>T	c.(796-798)Ctg>Ttg	p.L266L	PLK2_ENST00000502671.1_5'UTR	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	266	Protein kinase.				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		ACACAGCCCAGGGCCCAAATG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	89	90			NA	NA	5		NA											NA				57753328		2203	4300	6503	SO:0001819	synonymous_variant				CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632	10769	10769			19699	protein-coding gene	gene with protein product	serum-inducible kinase	607023	polo-like kinase 2 (Drosophila)		NA		Standard	NM_006622	NM_006622	NA	Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.796C>T	5.37:g.57753328G>A		NA	O60679|Q96CV7|Q9UE61	37	CCDS3974.1																																																																																			PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214150.1		-	ENST00000274289.3	Silent	SNP	5 : 57753328 - 57753328 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	251	39
MCM8	84515	broad.mit.edu	37	20	5966674	5966674	+	Missense_Mutation	SNP	G	G	A	rs149433613	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5966674G>A	ENST00000378896.3	+	16	2437	c.2060G>A	c.(2059-2061)cGa>cAa	p.R687Q	MCM8_ENST00000265187.4_Missense_Mutation_p.R671Q|MCM8_ENST00000378883.1_Missense_Mutation_p.R640Q|MCM8_ENST00000378886.2_Missense_Mutation_p.R727Q	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	687					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						GAAGCTGCTCGAGTTCTTCAA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								A	GLN/ARG,GLN/ARG	1,4405	826.1+/-416.6	0,1,2202	115	107	110		2060,2012	5.7	1	20	dbSNP_134	110	2,8598	819.2+/-406.8	0,2,4298	yes	missense,missense	MCM8	NM_032485.4,NM_182802.1	43,43	0,3,6500	AA,AG,GG	NA	0.0233,0.0227,0.0231	benign,benign	687/841,671/825	5966674	3,13003	2203	4300	6503	SO:0001583	missense			AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885	84515	84515			16147	protein-coding gene	gene with protein product	REC homolog (Drosophila)	608187	chromosome 20 open reading frame 154	C20orf154	NA	12527764	Standard	NM_032485	NM_032485	NA	Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.2060G>A	20.37:g.5966674G>A	ENSP00000368174:p.Arg687Gln	NA	B2RBG7|D3DW08|Q495R4|Q495R7|Q86US4|Q969I5	37	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	A	9.409	1.079986	0.20309	2.27E-4	2.33E-4	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	T;T;T;T	0.05996	3.36;3.36;3.36;3.36	5.65	5.65	0.86999	.	0.054667	0.64402	N	0.000001	T	0.01835	0.0058	N	0.00566	-1.37	0.22401	N	0.999133	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.43228	-0.9404	10	0.06625	T	0.88	-7.1168	11.9878	0.53157	0.9323:0.0:0.0677:0.0	.	640;727;671;687	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	Q	687;640;727;671	ENSP00000368174:R687Q;ENSP00000368161:R640Q;ENSP00000368164:R727Q;ENSP00000265187:R671Q	ENSP00000265187:R671Q	R	+	2	0	MCM8	5914674	1.000000	0.71417	0.975000	0.42487	0.687000	0.40016	6.140000	0.71738	1.081000	0.41110	-0.254000	0.11334	CGA	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077900.1		+	ENST00000378896.3	Missense_Mutation	SNP	20 : 5966674 - 5966674 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	495	88
B3GAT1	27087	broad.mit.edu	37	11	134257523	134257523	+	Missense_Mutation	SNP	C	C	T	rs144109297		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134257523C>T	ENST00000524765.1	-	2	4575	c.31G>A	c.(31-33)Gtc>Atc	p.V11I	B3GAT1_ENST00000531510.1_5'UTR|B3GAT1_ENST00000537389.1_Missense_Mutation_p.V24I|B3GAT1_ENST00000392580.1_Missense_Mutation_p.V11I|B3GAT1_ENST00000312527.4_Missense_Mutation_p.V11I			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	11					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	p.V11I(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		ACGATGAGGACGATCGCTAGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	ovary(1)						C	ILE/VAL,ILE/VAL	0,4402		0,0,2201	151	106	122		31,31	1.4	0.9	11	dbSNP_134	122	2,8592	2.2+/-6.3	0,2,4295	yes	missense,missense	B3GAT1	NM_018644.3,NM_054025.2	29,29	0,2,6496	TT,TC,CC	NA	0.0233,0.0,0.0154	benign,benign	11/335,11/335	134257523	2,12994	2201	4297	6498	SO:0001583	missense			AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	27087	27087	2.4.1.135	CD molecules, Beta-1,3-glucuronyltransferases	921	protein-coding gene	gene with protein product	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1, glucuronosyltransferase P	151290	CD57 antigen	CD57, LEU7	NA		Standard	NM_018644	XM_005271506	NA	Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.31G>A	11.37:g.134257523C>T	ENSP00000433847:p.Val11Ile	NA	Q96FS7	37	CCDS8500.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.040842	0.55003	0.0	2.33E-4	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.65178	-0.12;-0.12;-0.12;-0.14	4.38	1.44	0.22558	.	0.195514	0.43747	N	0.000524	T	0.35307	0.0927	N	0.12182	0.205	0.49483	D	0.999795	B;B	0.16166	0.002;0.016	B;B	0.09377	0.003;0.004	T	0.04664	-1.0935	10	0.15499	T	0.54	.	6.6376	0.22891	0.1444:0.6987:0.0:0.1569	.	24;11	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	I	11;11;11;24	ENSP00000376359:V11I;ENSP00000307875:V11I;ENSP00000433847:V11I;ENSP00000445983:V24I	ENSP00000307875:V11I	V	-	1	0	B3GAT1	133762733	0.933000	0.31639	0.928000	0.36995	0.995000	0.86356	0.477000	0.22196	0.132000	0.18615	0.561000	0.74099	GTC	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393639.1		-	ENST00000524765.1	Missense_Mutation	SNP	11 : 134257523 - 134257523 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	52
ENPP4	22875	broad.mit.edu	37	6	46107841	46107841	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46107841C>T	ENST00000321037.4	+	2	751	c.521C>T	c.(520-522)tCg>tTg	p.S174L		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	174						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CTAAACAATTCGAACCCACCA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	112	112			NA	NA	6		NA											NA				46107841		2203	4299	6502	SO:0001583	missense			AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561	22875	22875			3359	protein-coding gene	gene with protein product					NA	11027689	Standard		NM_014936	NA	Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.521C>T	6.37:g.46107841C>T	ENSP00000318066:p.Ser174Leu	NA	A8K5G1|Q7L2N1	37	CCDS34468.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709846	0.48517	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	T	0.72835	-0.69	5.71	5.71	0.89125	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.992833	0.08206	N	0.981433	T	0.69628	0.3132	M	0.70842	2.15	0.09310	N	1	D	0.53151	0.958	P	0.45639	0.488	T	0.67658	-0.5614	10	0.54805	T	0.06	-14.1878	19.8579	0.96771	0.0:1.0:0.0:0.0	.	174	Q9Y6X5	ENPP4_HUMAN	L	174	ENSP00000318066:S174L	ENSP00000318066:S174L	S	+	2	0	ENPP4	46215800	0.191000	0.23288	0.925000	0.36789	0.833000	0.47200	1.916000	0.39986	2.687000	0.91594	0.655000	0.94253	TCG	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040777.2		+	ENST00000321037.4	Missense_Mutation	SNP	6 : 46107841 - 46107841 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	718	109
NIPBL	25836	broad.mit.edu	37	5	37000589	37000589	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37000589G>A	ENST00000282516.8	+	12	3918	c.3419G>A	c.(3418-3420)aGt>aAt	p.S1140N	NIPBL_ENST00000448238.2_Missense_Mutation_p.S1140N	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1140					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GGAAGAAGGAGTTCAGGTGGT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	163	165			NA	NA	5		NA											NA				37000589		2203	4300	6503	SO:0001583	missense			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190	25836	25836			28862	protein-coding gene	gene with protein product	sister chromatid cohesion 2 homolog (yeast)	608667			NA	15146186, 15146185	Standard	NM_015384	NM_133433	NA	Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.3419G>A	5.37:g.37000589G>A	ENSP00000282516:p.Ser1140Asn	NA	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975683	0.53720	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93366	-3.21;-3.21	5.81	5.81	0.92471	.	0.098581	0.64402	D	0.000001	D	0.84306	0.5443	N	0.08118	0	0.36449	D	0.865984	B;B	0.30281	0.039;0.275	B;B	0.27715	0.011;0.082	D	0.84191	0.0445	10	0.25106	T	0.35	.	12.7995	0.57578	0.0:0.1238:0.7477:0.1285	.	1140;1140	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	N	1140	ENSP00000282516:S1140N;ENSP00000406266:S1140N	ENSP00000282516:S1140N	S	+	2	0	NIPBL	37036346	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.341000	0.65964	2.759000	0.94783	0.591000	0.81541	AGT	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207582.1		+	ENST00000282516.8	Missense_Mutation	SNP	5 : 37000589 - 37000589 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	470	77
ODF4	146852	broad.mit.edu	37	17	8243676	8243676	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8243676A>C	ENST00000584943.1	+	1	291				ODF4_ENST00000328248.2_Missense_Mutation_p.K103Q			Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	NA					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						CTTCTCCAAGAAATGGCTGGA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	41	42			NA	NA	17		NA											NA				8243676		2203	4300	6503	SO:0001627	intron_variant			AB081120	CCDS11140.1	17p13	2010-09-27			ENSG00000184650	ENSG00000184650	146852	146852			19056	protein-coding gene	gene with protein product	cancer/testis antigen 136	610097			NA		Standard		NM_153007	NA	Approved	OPPO1, CT136	uc002gle.1	Q2M2E3	OTTHUMG00000108190	ENST00000584943.1:c.109+198A>C	17.37:g.8243676A>C		NA	Q8J021	37		.	.	.	.	.	.	.	.	.	.	A	10.77	1.444775	0.25987	.	.	ENSG00000184650	ENST00000328248	T	0.25749	1.78	4.89	2.47	0.30058	.	0.425172	0.20109	N	0.099047	T	0.20495	0.0493	L	0.43923	1.385	0.40096	D	0.976312	P	0.36392	0.551	B	0.34779	0.189	T	0.07009	-1.0795	10	0.66056	D	0.02	-10.367	9.0114	0.36144	0.6393:0.3607:0.0:0.0	.	103	Q2M2E3	ODFP4_HUMAN	Q	103	ENSP00000331086:K103Q	ENSP00000331086:K103Q	K	+	1	0	ODF4	8184401	0.957000	0.32711	0.990000	0.47175	0.012000	0.07955	1.522000	0.35921	0.848000	0.35191	0.533000	0.62120	AAA	ODF4-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000442316.1		+	ENST00000584943.1	Intron	SNP	17 : 8243676 - 8243676 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	89	17
DYM	54808	broad.mit.edu	37	18	46808509	46808509	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:46808509A>T	ENST00000269445.6	-	10	1440	c.983T>A	c.(982-984)tTc>tAc	p.F328Y	DYM_ENST00000442713.2_Missense_Mutation_p.F138Y	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	328						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						GTTGATCTGGAAGGCATGTGG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	95	97			NA	NA	18		NA											NA				46808509		2203	4300	6503	SO:0001583	missense			AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627	54808	54808			21317	protein-coding gene	gene with protein product		607461			NA		Standard	NM_017653	NM_017653	NA	Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.983T>A	18.37:g.46808509A>T	ENSP00000269445:p.Phe328Tyr	NA	A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	37	CCDS11937.1	.	.	.	.	.	.	.	.	.	.	A	33	5.220756	0.95139	.	.	ENSG00000141627	ENST00000442713;ENST00000269445	D;D	0.82984	-1.67;-1.67	5.53	5.53	0.82687	.	0.087292	0.85682	D	0.000000	D	0.91140	0.7210	M	0.82056	2.57	0.80722	D	1	D;D;D	0.67145	0.99;0.991;0.996	P;D;P	0.74023	0.844;0.982;0.842	D	0.92346	0.5885	10	0.87932	D	0	-21.8803	15.9991	0.80275	1.0:0.0:0.0:0.0	.	138;150;328	Q7RTS9-2;Q9NXS9;Q7RTS9	.;.;DYM_HUMAN	Y	138;328	ENSP00000395942:F138Y;ENSP00000269445:F328Y	ENSP00000269445:F328Y	F	-	2	0	DYM	45062507	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.171000	0.94802	2.240000	0.73641	0.472000	0.43445	TTC	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255912.3		-	ENST00000269445.6	Missense_Mutation	SNP	18 : 46808509 - 46808509 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	51
ITPR1	3708	broad.mit.edu	37	3	4852977	4852977	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4852977C>T	ENST00000357086.4	+	53	7505	c.7157C>T	c.(7156-7158)aCt>aTt	p.T2386I	ITPR1_ENST00000302640.8_Missense_Mutation_p.T2419I|ITPR1_ENST00000354582.6_Missense_Mutation_p.T2419I|ITPR1_ENST00000456211.2_Missense_Mutation_p.T2371I|ITPR1_ENST00000423119.2_Missense_Mutation_p.T2386I|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000544951.1_Missense_Mutation_p.T397I|ITPR1_ENST00000443694.2_Missense_Mutation_p.T2419I			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2434					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGAGAAGAGACTTTGCTTAAT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	91	93			NA	NA	3		NA											NA				4852977		1901	4135	6036	SO:0001583	missense			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995	3708	3708		Ion channels / Inositol triphosphate receptors	6180	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 94	147265	spinocerebellar ataxia 15, spinocerebellar ataxia 16, spinocerebellar ataxia 29	SCA15, SCA16, SCA29	NA	7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_002222	NM_001099952	NA	Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000357086.4:c.7157C>T	3.37:g.4852977C>T	ENSP00000349597:p.Thr2386Ile	NA	Q14660|Q99897	37	CCDS46740.2	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003787	0.93287	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.98633	-5.04;-5.04;-5.04;-5.04;-5.04;-5.04;-5.04	5.38	5.38	0.77491	Ion transport (1);	0.099034	0.64402	D	0.000001	D	0.99165	0.9711	M	0.82630	2.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	D	0.99601	1.0978	10	0.51188	T	0.08	.	19.12	0.93358	0.0:1.0:0.0:0.0	.	397;2434;2386	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	I	2434;2419;2419;2386;880;2386;2371;397;2419	ENSP00000306253:T2419I;ENSP00000346595:T2419I;ENSP00000405934:T2386I;ENSP00000349597:T2386I;ENSP00000397885:T2371I;ENSP00000440564:T397I;ENSP00000401671:T2419I	ENSP00000306253:T2419I	T	+	2	0	ITPR1	4827977	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.724000	0.84798	2.509000	0.84616	0.563000	0.77884	ACT	ITPR1-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337979.3		+	ENST00000357086.4	Missense_Mutation	SNP	3 : 4852977 - 4852977 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	183	36
FCN2	2220	broad.mit.edu	37	9	137777195	137777195	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137777195G>A	ENST00000291744.6	+	5	422	c.412G>A	c.(412-414)Gac>Aac	p.D138N	FCN2_ENST00000350339.2_Missense_Mutation_p.D100N	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	138	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		CATGGACACGGACGGAGGGGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	35	35			NA	NA	9		NA											NA				137777195		2203	4295	6498	SO:0001583	missense			D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339	2220	2220		Fibrinogen C domain containing	3624	protein-coding gene	gene with protein product	hucolin, collagen/fibrinogen domain-containing protein 2, ficolin B, serum lectin p35, L-ficolin	601624	ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)		NA	8884275	Standard	NM_004108	XM_006717015	NA	Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.412G>A	9.37:g.137777195G>A	ENSP00000291744:p.Asp138Asn	NA	A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	37	CCDS6983.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.142895	0.57044	.	.	ENSG00000160339	ENST00000350339;ENST00000291744	T;T	0.78595	-1.19;-1.19	3.43	3.43	0.39272	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.318052	0.21853	N	0.068150	D	0.88440	0.6437	M	0.88640	2.97	0.43412	D	0.995559	D;D	0.64830	0.994;0.989	D;D	0.70016	0.967;0.951	D	0.90157	0.4225	10	0.87932	D	0	.	12.333	0.55049	0.0:0.0:1.0:0.0	.	100;138	Q15485-2;Q15485	.;FCN2_HUMAN	N	100;138	ENSP00000291741:D100N;ENSP00000291744:D138N	ENSP00000291744:D138N	D	+	1	0	FCN2	136917016	1.000000	0.71417	0.048000	0.18961	0.396000	0.30629	6.579000	0.74036	1.441000	0.47550	0.462000	0.41574	GAC	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054960.1		+	ENST00000291744.6	Missense_Mutation	SNP	9 : 137777195 - 137777195 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	201	26
CAPN15	6650	broad.mit.edu	37	16	602440	602440	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:602440G>A	ENST00000219611.2	+	11	3010	c.2647G>A	c.(2647-2649)Gac>Aac	p.D883N	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1			calpain 15	NA											NA						CGTCAGCTGCGACGTCATGCT	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	28	26			NA	NA	16		NA											NA				602440		2171	4283	6454	SO:0001583	missense			U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326	6650	6650			11182	protein-coding gene	gene with protein product		603267	small optic lobes (Drosophila) homolog, small optic lobes homolog (Drosophila)	SOLH	NA	9722942	Standard	NM_005632	NM_005632	NA	Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.2647G>A	16.37:g.602440G>A	ENSP00000219611:p.Asp883Asn	NA		37	CCDS10410.1	.	.	.	.	.	.	.	.	.	.	g	15.47	2.843974	0.51164	.	.	ENSG00000103326	ENST00000219611	D	0.88741	-2.42	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.89873	0.6841	L	0.27053	0.805	0.54753	D	0.999984	D	0.89917	1.0	D	0.85130	0.997	D	0.85580	0.1239	10	0.10111	T	0.7	.	17.9079	0.88925	0.0:0.0:1.0:0.0	.	883	O75808	CAN15_HUMAN	N	883	ENSP00000219611:D883N	ENSP00000219611:D883N	D	+	1	0	SOLH	542441	1.000000	0.71417	0.879000	0.34478	0.878000	0.50629	7.618000	0.83043	2.580000	0.87095	0.556000	0.70494	GAC	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239271.1		+	ENST00000219611.2	Missense_Mutation	SNP	16 : 602440 - 602440 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	221	41
OBSCN	84033	broad.mit.edu	37	1	228525846	228525846	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228525846G>A	ENST00000570156.2	+	78	19946		c.e78+1		OBSCN_ENST00000366707.4_Splice_Site|OBSCN_ENST00000284548.11_Splice_Site|OBSCN_ENST00000366709.4_Splice_Site|OBSCN_ENST00000422127.1_Splice_Site	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	NA					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGGCTCAAGGTATCTGAATG	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	18	18			NA	NA	1		NA											NA				228525846		1947	4131	6078	SO:0001630	splice_region_variant			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358	84033	84033		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	15719	protein-coding gene	gene with protein product		608616			NA	11448995, 11814696	Standard	NM_052843	NM_001098623	NA	Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000570156.2:c.19872+1G>A	1.37:g.228525846G>A		NA	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	37	CCDS59204.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710945	0.68730	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000441106	.	.	.	4.15	4.15	0.48705	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9763	0.86314	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OBSCN	226592469	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	9.531000	0.98054	2.324000	0.78689	0.491000	0.48974	.	OBSCN-011	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421354.3	Intron	+	ENST00000570156.2	Splice_Site	SNP	1 : 228525846 - 228525846 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	142	36
POU2F1	5451	broad.mit.edu	37	1	167381303	167381303	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167381303G>A	ENST00000367862.5	+	14	1865	c.1630G>A	c.(1630-1632)Gcc>Acc	p.A544T	POU2F1_ENST00000429375.2_Missense_Mutation_p.A492T|POU2F1_ENST00000420254.3_Missense_Mutation_p.A532T|POU2F1_ENST00000367866.2_Missense_Mutation_p.A555T|POU2F1_ENST00000541643.3_Missense_Mutation_p.A532T|POU2F1_ENST00000367865.1_3'UTR	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	532					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						TTCTGCCTCAGCCTCCACCTC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	75	81			NA	NA	1		NA											NA				167381303		2203	4300	6503	SO:0001583	missense			BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190	5451	5451		Homeoboxes / POU class	9212	protein-coding gene	gene with protein product		164175	POU domain class 2, transcription factor 1	OTF1	NA	1887216	Standard	NM_002697	NM_002697	NA	Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000367862.5:c.1630G>A	1.37:g.167381303G>A	ENSP00000356836:p.Ala544Thr	NA	B1AL91|B1AL93|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	37	CCDS55656.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756711	0.69648	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	D;D;T;T;T;T;T	0.86497	-2.13;-2.1;0.12;0.12;0.12;0.12;0.12	5.5	4.59	0.56863	.	1.244020	0.05323	N	0.527015	T	0.70422	0.3222	N	0.19112	0.55	0.34924	D	0.748716	B;B;B;B;B	0.21753	0.036;0.035;0.06;0.06;0.036	B;B;B;B;B	0.20184	0.008;0.013;0.019;0.028;0.008	T	0.46048	-0.9219	9	0.34782	T	0.22	.	14.5992	0.68427	0.0703:0.0:0.9297:0.0	.	492;532;544;530;532	B4E029;P14859-4;P14859-2;P14859-3;P14859	.;.;.;.;PO2F1_HUMAN	T	555;492;530;532;532;544;440	ENSP00000356840:A555T;ENSP00000401217:A492T;ENSP00000356839:A530T;ENSP00000414660:A532T;ENSP00000441285:A532T;ENSP00000356836:A544T;ENSP00000415993:A440T	ENSP00000356836:A544T	A	+	1	0	POU2F1	165647927	1.000000	0.71417	0.973000	0.42090	0.995000	0.86356	3.738000	0.55067	1.453000	0.47775	0.650000	0.86243	GCC	POU2F1-003	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083248.2		+	ENST00000367862.5	Missense_Mutation	SNP	1 : 167381303 - 167381303 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	364	61
LRCH4	4034	broad.mit.edu	37	7	100174761	100174761	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100174761G>A	ENST00000497245.1	-	0	1229				LRCH4_ENST00000310300.6_Missense_Mutation_p.L438F			O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	NA					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACAGCCCTGAGCCCTGGCTTC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	61	60			NA	NA	7		NA											NA				100174761		2202	4300	6502	SO:0001623	5_prime_UTR_variant			AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454	4034	4034			6691	protein-coding gene	gene with protein product				LRN, LRRN1	NA	9799793	Standard	NM_002319	XM_005250346	NA	Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000497245.1:c.-45C>T	7.37:g.100174761G>A		NA	A4D2D5|Q8WV85|Q96ID0	37		.	.	.	.	.	.	.	.	.	.	g	8.842	0.942492	0.18281	.	.	ENSG00000077454	ENST00000310300	T	0.33865	1.39	4.39	-5.68	0.02436	.	2.169780	0.01807	N	0.033258	T	0.15435	0.0372	N	0.08118	0	0.09310	N	0.999997	P	0.34780	0.468	B	0.30646	0.118	T	0.10268	-1.0637	10	0.56958	D	0.05	0.0698	2.4963	0.04622	0.1237:0.1208:0.4011:0.3544	.	438	O75427	LRCH4_HUMAN	F	438	ENSP00000309689:L438F	ENSP00000309689:L438F	L	-	1	0	LRCH4	100012697	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	-0.450000	0.06803	-1.113000	0.02981	-0.436000	0.05848	CTC	LRCH4-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000356111.1		-	ENST00000497245.1	5'UTR	SNP	7 : 100174761 - 100174761 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	319	79
COL21A1	81578	broad.mit.edu	37	6	56035927	56035927	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56035927C>A	ENST00000244728.5	-	4	1038		c.e4-1		COL21A1_ENST00000535941.1_Splice_Site|COL21A1_ENST00000370819.1_Splice_Site	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	NA					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CAGACAGATTCTATAAAGCAA	0.303		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	6		NA											NA				56035927		1821	4071	5892	SO:0001630	splice_region_variant			AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749	NA	81578		Collagens	17025	protein-coding gene	gene with protein product		610002			NA	11566190	Standard		XR_241922	NA	Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.641-1G>T	6.37:g.56035927C>A		NA	A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	37	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898615	0.72639	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3506	0.87322	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL21A1	56143886	1.000000	0.71417	0.999000	0.59377	0.908000	0.53690	7.235000	0.78143	2.084000	0.62774	0.585000	0.79938	.	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041004.2	Intron	-	ENST00000244728.5	Splice_Site	SNP	6 : 56035927 - 56035927 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	247	10
FABP9	646480	broad.mit.edu	37	8	82370890	82370890	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82370890G>T	ENST00000379071.2	-	3	350	c.295C>A	c.(295-297)Ctt>Att	p.L99I	RP11-157I4.4_ENST00000524085.2_RNA	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	99							lipid binding|transporter activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			TCTTTGCCAAGCCATTTTTGG	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	95	98			NA	NA	8		NA											NA				82370890		2201	4300	6501	SO:0001583	missense					8q21.13	2013-03-01			ENSG00000205186	ENSG00000205186	646480	646480		Fatty acid binding protein family	3563	protein-coding gene	gene with protein product					NA	7958448	Standard	NM_001080526	NM_001080526	NA	Approved	PERF, T-FABP, PERF15	uc011lfo.2	Q0Z7S8	OTTHUMG00000164601	ENST00000379071.2:c.295C>A	8.37:g.82370890G>T	ENSP00000368362:p.Leu99Ile	NA		37		.	.	.	.	.	.	.	.	.	.	G	11.45	1.643769	0.29246	.	.	ENSG00000205186	ENST00000379071	T	0.07800	3.16	5.28	4.41	0.53225	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.181563	0.45606	D	0.000357	T	0.06554	0.0168	N	0.22421	0.69	0.27626	N	0.94819	B	0.06786	0.001	B	0.19148	0.024	T	0.18304	-1.0341	10	0.87932	D	0	.	8.8977	0.35474	0.0:0.1633:0.6672:0.1695	.	99	Q0Z7S8	FABP9_HUMAN	I	99	ENSP00000368362:L99I	ENSP00000368362:L99I	L	-	1	0	FABP9	82533445	0.998000	0.40836	0.992000	0.48379	0.537000	0.34900	1.881000	0.39638	1.459000	0.47892	-0.152000	0.13540	CTT	FABP9-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000379367.2		-	ENST00000379071.2	Missense_Mutation	SNP	8 : 82370890 - 82370890 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	341	14
DAAM1	23002	broad.mit.edu	37	14	59797313	59797313	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59797313A>C	ENST00000395125.1	+	12	1490	c.1467A>C	c.(1465-1467)aaA>aaC	p.K489N	DAAM1_ENST00000360909.3_Missense_Mutation_p.K489N|DAAM1_ENST00000351081.1_Missense_Mutation_p.K489N	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	489					actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CCTTAAATAAAATGAAAGAGA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	88	89			NA	NA	14		NA											NA				59797313		2203	4300	6503	SO:0001583	missense			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592	23002	23002			18142	protein-coding gene	gene with protein product		606626			NA	11779461, 18162551	Standard	NM_014992	NM_014992	NA	Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.1467A>C	14.37:g.59797313A>C	ENSP00000378557:p.Lys489Asn	NA	Q86U34|Q8N1Z8|Q8TB39	37	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	A	13.17	2.158223	0.38119	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	T;T;T	0.33216	1.42;1.42;1.42	5.98	1.19	0.21007	.	0.000000	0.85682	D	0.000000	T	0.44891	0.1315	L	0.59912	1.85	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.987	T	0.16928	-1.0386	10	0.38643	T	0.18	.	8.9768	0.35941	0.5712:0.0:0.4288:0.0	.	489;489	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	N	489	ENSP00000354162:K489N;ENSP00000247170:K489N;ENSP00000378557:K489N	ENSP00000247170:K489N	K	+	3	2	DAAM1	58867066	1.000000	0.71417	1.000000	0.80357	0.468000	0.32798	2.139000	0.42149	0.181000	0.19994	-0.256000	0.11100	AAA	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276942.2		+	ENST00000395125.1	Missense_Mutation	SNP	14 : 59797313 - 59797313 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	58
ITSN1	6453	broad.mit.edu	37	21	35202044	35202044	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35202044C>T	ENST00000381318.3	+	27	3634	c.3346C>T	c.(3346-3348)Ctg>Ttg	p.L1116L	ITSN1_ENST00000399353.1_Silent_p.L1074L|ITSN1_ENST00000399367.3_Silent_p.L1111L|ITSN1_ENST00000379960.5_3'UTR|ITSN1_ENST00000399355.2_Silent_p.L1045L|ITSN1_ENST00000381285.4_Silent_p.L1116L|ITSN1_ENST00000399326.3_3'UTR|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Silent_p.L1111L|ITSN1_ENST00000381291.4_Silent_p.L1116L|ITSN1_ENST00000399349.1_Silent_p.L1040L|ITSN1_ENST00000399352.1_Silent_p.L1111L	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1116	SH3 4.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GGAAGGAGAGCTGCAAGTCAG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	111	108			NA	NA	21		NA											NA				35202044		2203	4300	6503	SO:0001819	synonymous_variant			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726	6453	6453		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing, EF-hand domain containing	6183	protein-coding gene	gene with protein product	SH3 domain protein-1A, human intersectin-SH3 domain-containing protein SH3P17, Src homology 3 domain-containing protein, intersectin 1 short form variant, 11, intersectin 1 short form variant 3, intersectin short variant 12	602442		SH3D1A, ITSN	NA	9799604, 9813051	Standard	NM_003024	NM_003024	NA	Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3346C>T	21.37:g.35202044C>T		NA	O95216|Q1ED40|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	37	CCDS33545.1																																																																																			ITSN1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000140070.4		+	ENST00000381318.3	Silent	SNP	21 : 35202044 - 35202044 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	567	107
IL1R2	7850	broad.mit.edu	37	2	102641091	102641091	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:102641091G>A	ENST00000332549.3	+	7	1077	c.848G>A	c.(847-849)aGc>aAc	p.S283N	IL1R2_ENST00000485335.1_3'UTR|IL1R2_ENST00000393414.2_Missense_Mutation_p.S283N|IL1R2_ENST00000441002.1_Missense_Mutation_p.S283N	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	283	Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	CACATAGAGAGCGCCTACCCG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(106;189 1628 2302 5133 12295)							NA				0													62	58	59			NA	NA	2		NA											NA				102641091		2203	4300	6503	SO:0001583	missense			X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590	7850	7850		Interleukins and interleukin receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	5994	protein-coding gene	gene with protein product		147811		IL1RB	NA	10191101, 1833184	Standard	NM_004633	NM_004633	NA	Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.848G>A	2.37:g.102641091G>A	ENSP00000330959:p.Ser283Asn	NA	D3DVJ5|Q9UE68	37	CCDS2054.1	.	.	.	.	.	.	.	.	.	.	G	7.864	0.726765	0.15439	.	.	ENSG00000115590	ENST00000332549;ENST00000393414;ENST00000441002	T;T;T	0.22945	1.93;1.93;1.93	5.86	-11.7	0.00046	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	2.387270	0.00966	N	0.003179	T	0.05410	0.0143	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32134	-0.9918	10	0.16420	T	0.52	.	1.5337	0.02541	0.3941:0.2197:0.0787:0.3074	.	283	P27930	IL1R2_HUMAN	N	283	ENSP00000330959:S283N;ENSP00000377066:S283N;ENSP00000414611:S283N	ENSP00000330959:S283N	S	+	2	0	IL1R2	102007523	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.162000	0.01277	-3.249000	0.00205	0.650000	0.86243	AGC	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253191.1		+	ENST00000332549.3	Missense_Mutation	SNP	2 : 102641091 - 102641091 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	453	77
ADPRHL2	54936	broad.mit.edu	37	1	36558779	36558779	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36558779C>A	ENST00000373178.4	+	6	914	c.884C>A	c.(883-885)cCt>cAt	p.P295H		NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	295						cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				CCTGAGATCCCTTCTGCCTTC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	123	125			NA	NA	1		NA											NA				36558779		2203	4300	6503	SO:0001583	missense			AJ427295	CCDS402.1	1p34.3	2008-02-05			ENSG00000116863	ENSG00000116863	54936	54936			21304	protein-coding gene	gene with protein product		610624			NA	12070318, 16278211	Standard	NM_017825	NM_017825	NA	Approved	ARH3, FLJ20446	uc001bzt.3	Q9NX46	OTTHUMG00000007628	ENST00000373178.4:c.884C>A	1.37:g.36558779C>A	ENSP00000362273:p.Pro295His	NA	Q53G94|Q6IAB8|Q9BY47	37	CCDS402.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501166	0.85176	.	.	ENSG00000116863	ENST00000373178;ENST00000540867;ENST00000543954	T	0.50001	0.76	5.48	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.69646	0.3134	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.74768	-0.3553	10	0.62326	D	0.03	-11.1167	14.2562	0.66053	0.0:0.9283:0.0:0.0716	.	295	Q9NX46	ARHL2_HUMAN	H	295;215;141	ENSP00000362273:P295H	ENSP00000362273:P295H	P	+	2	0	ADPRHL2	36331366	1.000000	0.71417	0.842000	0.33263	0.949000	0.60115	7.783000	0.85696	1.305000	0.44909	0.563000	0.77884	CCT	ADPRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000020199.1		+	ENST00000373178.4	Missense_Mutation	SNP	1 : 36558779 - 36558779 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	276	81
FGFBP1	9982	broad.mit.edu	37	4	15937605	15937605	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15937605A>C	ENST00000382333.1	-	3	945	c.651T>G	c.(649-651)acT>acG	p.T217T	FGFBP1_ENST00000259988.2_Silent_p.T217T	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	217	Sufficient for interaction with FGF2 and FGF2-induced effects.				cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						GAGAGCTCCAAGTCTCTCCAC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	135	134			NA	NA	4		NA											NA				15937605		2203	4300	6503	SO:0001819	synonymous_variant			M60047	CCDS3418.1	4p15.32	2008-02-05			ENSG00000137440	ENSG00000137440	9982	9982			19695	protein-coding gene	gene with protein product		607737			NA	11148217, 1885605	Standard	NM_005130	NM_005130	NA	Approved	HBP17, FGFBP	uc003gom.3	Q14512	OTTHUMG00000097745	ENST00000382333.1:c.651T>G	4.37:g.15937605A>C		NA	A8K5J2	37	CCDS3418.1																																																																																			FGFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214974.1		-	ENST00000382333.1	Silent	SNP	4 : 15937605 - 15937605 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	865	151
SHPRH	257218	broad.mit.edu	37	6	146264761	146264761	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146264761T>G	ENST00000367505.2	-	9	2020	c.1756A>C	c.(1756-1758)Aaa>Caa	p.K586Q	SHPRH_ENST00000438092.2_Missense_Mutation_p.K586Q|SHPRH_ENST00000275233.7_Missense_Mutation_p.K586Q|SHPRH_ENST00000367503.3_Missense_Mutation_p.K586Q			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	586					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTTTTTCCTTTTTTTGTGGAT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													255	234	240			NA	NA	6		NA											NA				146264761		1909	4122	6031	SO:0001583	missense			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414	257218	257218		RING-type (C3HC4) zinc fingers	19336	protein-coding gene	gene with protein product		608048	SNF2 histone linker PHD RING helicase		NA	12837266	Standard	NM_173082	NM_001042683	NA	Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.1756A>C	6.37:g.146264761T>G	ENSP00000356475:p.Lys586Gln	NA	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	37	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	T	9.624	1.134688	0.21123	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87	5.46	4.28	0.50868	DEAD-like helicase (1);	0.598979	0.16529	N	0.210466	T	0.29850	0.0746	N	0.14661	0.345	0.09310	N	1	B;B;B;P	0.43094	0.002;0.229;0.191;0.799	B;B;B;B	0.36845	0.009;0.175;0.109;0.234	T	0.08391	-1.0724	10	0.33940	T	0.23	-11.4061	2.5385	0.04720	0.1425:0.0804:0.2966:0.4805	.	475;586;586;475	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	Q	586;586;586;586;475	ENSP00000356475:K586Q;ENSP00000356473:K586Q;ENSP00000412797:K586Q;ENSP00000275233:K586Q	ENSP00000275233:K586Q	K	-	1	0	SHPRH	146306454	0.920000	0.31207	0.010000	0.14722	0.097000	0.18754	2.129000	0.42055	0.997000	0.38969	0.528000	0.53228	AAA	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042571.2		-	ENST00000367505.2	Missense_Mutation	SNP	6 : 146264761 - 146264761 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	885	180
ASTN1	460	broad.mit.edu	37	1	176992602	176992602	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176992602G>A	ENST00000367657.3	-	7	1566	c.1376C>T	c.(1375-1377)gCc>gTc	p.A459V	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367654.3_Missense_Mutation_p.A459V|ASTN1_ENST00000424564.2_Missense_Mutation_p.A459V|ASTN1_ENST00000361833.2_Missense_Mutation_p.A459V			O14525	ASTN1_HUMAN	astrotactin 1	459	EGF-like 1.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAGGTCCATGGCCCAGGGTCC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	31	32			NA	NA	1		NA											NA				176992602		2203	4300	6503	SO:0001583	missense			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092	460	460			773	protein-coding gene	gene with protein product		600904	astrotactin	ASTN	NA	9070947	Standard	NM_004319	NM_001286164	NA	Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367657.3:c.1376C>T	1.37:g.176992602G>A	ENSP00000356629:p.Ala459Val	NA	O60799|Q5W0V7|Q5W0V8	37		.	.	.	.	.	.	.	.	.	.	G	9.922	1.212440	0.22289	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.12569	2.67;3.09;3.09;2.67	5.91	5.91	0.95273	.	0.106321	0.64402	D	0.000005	T	0.06508	0.0167	N	0.02916	-0.46	0.53005	D	0.999964	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.09377	0.004;0.004;0.004	T	0.23440	-1.0188	10	0.02654	T	1	-30.7684	19.8914	0.96931	0.0:0.0:1.0:0.0	.	459;459;459	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	V	459	ENSP00000356629:A459V;ENSP00000354536:A459V;ENSP00000356626:A459V;ENSP00000395041:A459V	ENSP00000354536:A459V	A	-	2	0	ASTN1	175259225	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.109000	0.77062	2.813000	0.96785	0.655000	0.94253	GCC	ASTN1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000084823.1		-	ENST00000367657.3	Missense_Mutation	SNP	1 : 176992602 - 176992602 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	112	32
KERA	11081	broad.mit.edu	37	12	91449450	91449450	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91449450G>A	ENST00000266719.3	-	2	856	c.609C>T	c.(607-609)gcC>gcT	p.A203A		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	203					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TATTCCTCAGGGCATTCTTGG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	127	128			NA	NA	12		NA											NA				91449450		2203	4299	6502	SO:0001819	synonymous_variant			AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330	11081	11081		Proteoglycans / Extracellular Matrix : Small leucine-rich repeats	6309	protein-coding gene	gene with protein product	keratocan proteoglycan	603288		CNA2	NA	10565548, 10802664	Standard	NM_007035	NM_007035	NA	Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.609C>T	12.37:g.91449450G>A		NA		37	CCDS9037.1																																																																																			KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407149.2		-	ENST00000266719.3	Silent	SNP	12 : 91449450 - 91449450 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	804	144
CD276	80381	broad.mit.edu	37	15	73994861	73994861	+	Silent	SNP	G	G	A	rs145054349	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73994861G>A	ENST00000318443.5	+	3	647	c.345G>A	c.(343-345)gcG>gcA	p.A115A	CD276_ENST00000564751.1_Silent_p.A115A|CD276_ENST00000318424.5_Silent_p.A115A|CD276_ENST00000561213.1_Silent_p.A115A|CD276_ENST00000537340.2_5'UTR	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	115	Ig-like V-type 1.				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						TGCGTGTGGCGGACGAGGGCA	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	22,4374	29.0+/-57.7	0,22,2176	43	37	39		345,345	-5.6	0.7	15	dbSNP_134	39	2,8588	2.2+/-6.3	0,2,4293	no	coding-synonymous,coding-synonymous	CD276	NM_001024736.1,NM_025240.2	,	0,24,6469	AA,AG,GG	NA	0.0233,0.5005,0.1848	,	115/535,115/317	73994861	24,12962	2198	4295	6493	SO:0001819	synonymous_variant			AF302102	CCDS10251.1, CCDS32288.1	15q23-q24	2013-01-11	2006-03-28		ENSG00000103855	ENSG00000103855	80381	80381		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing	19137	protein-coding gene	gene with protein product		605715	CD276 antigen		NA	11224528, 12055244	Standard	NM_025240	XM_005254699	NA	Approved	B7-H3, B7H3, B7RP-2	uc002avv.1	Q5ZPR3	OTTHUMG00000137585	ENST00000318443.5:c.345G>A	15.37:g.73994861G>A		NA	Q6P5Y4|Q6UXI2|Q8NBI8|Q8NC34|Q8NCB6|Q9BXR1	37	CCDS32288.1																																																																																			CD276-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268979.1		+	ENST00000318443.5	Silent	SNP	15 : 73994861 - 73994861 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	228	40
GFRA2	2675	broad.mit.edu	37	8	21608179	21608179	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21608179G>A	ENST00000524240.1	-	4	1365	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S	GFRA2_ENST00000518077.1_Missense_Mutation_p.P106S|GFRA2_ENST00000400782.4_Missense_Mutation_p.P134S|GFRA2_ENST00000517328.1_Missense_Mutation_p.P239S	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	239						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GAGCAGCTGGGCAGGATGGTT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	40	38			NA	NA	8		NA											NA				21608179		2173	4269	6442	SO:0001583	missense			AF002700	CCDS47816.1, CCDS55207.1	8p21.3	2008-05-02			ENSG00000168546	ENSG00000168546	2675	2675			4244	protein-coding gene	gene with protein product		601956			NA	9177201	Standard	NM_001495	NM_001165038	NA	Approved	RETL2, GDNFRB, NTNRA, TRNR2	uc003wzu.1	O00451	OTTHUMG00000163897	ENST00000524240.1:c.715C>T	8.37:g.21608179G>A	ENSP00000428518:p.Pro239Ser	NA	O15316|O15328|Q6GTR9|Q7Z5C2	37	CCDS47816.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530210	0.85706	.	.	ENSG00000168546	ENST00000524240;ENST00000400782;ENST00000517328;ENST00000518077;ENST00000517892;ENST00000522071	T;T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02;0.02	4.78	4.78	0.61160	GDNF/GAS1 (2);	0.000000	0.85682	D	0.000000	T	0.80788	0.4690	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	0.999;0.986;1.0	P;P;D	0.75020	0.906;0.726;0.985	D	0.84576	0.0658	10	0.87932	D	0	-23.9515	17.4162	0.87500	0.0:0.0:1.0:0.0	.	106;134;239	O00451-2;E9PD47;O00451	.;.;GFRA2_HUMAN	S	239;134;239;106;134;239	ENSP00000428518:P239S;ENSP00000383592:P134S;ENSP00000429445:P239S;ENSP00000429206:P106S;ENSP00000429979:P134S;ENSP00000428721:P239S	ENSP00000383592:P134S	P	-	1	0	GFRA2	21652459	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	9.869000	0.99810	2.199000	0.70637	0.313000	0.20887	CCC	GFRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376254.3		-	ENST00000524240.1	Missense_Mutation	SNP	8 : 21608179 - 21608179 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	223	31
VPS37B	79720	broad.mit.edu	37	12	123352062	123352062	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123352062C>T	ENST00000267202.2	-	4	840	c.459G>A	c.(457-459)cgG>cgA	p.R153R		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	153	Interaction with IST1.|VPS37 C-terminal.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		CGATTTTCACCCGTCGCATGT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	127	125			NA	NA	12		NA											NA				123352062		2203	4300	6503	SO:0001819	synonymous_variant			AK022812	CCDS9239.1	12q24.31	2008-02-05	2006-04-04		ENSG00000139722	ENSG00000139722	79720	79720			25754	protein-coding gene	gene with protein product		610037	vacuolar protein sorting 37B (yeast)		NA	15218037	Standard	NM_024667	NM_024667	NA	Approved	FLJ12750	uc001udl.3	Q9H9H4	OTTHUMG00000168767	ENST00000267202.2:c.459G>A	12.37:g.123352062C>T		NA		37	CCDS9239.1																																																																																			VPS37B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400946.1		-	ENST00000267202.2	Silent	SNP	12 : 123352062 - 123352062 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1185	167
ACTL9	284382	broad.mit.edu	37	19	8808659	8808659	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8808659G>A	ENST00000324436.3	-	1	513	c.393C>T	c.(391-393)caC>caT	p.H131H		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	131						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GCTCCAGCAGGTGGCGCCAGA	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	38	36			NA	NA	19		NA											NA				8808659		2201	4295	6496	SO:0001819	synonymous_variant				CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786	284382	284382			28494	protein-coding gene	gene with protein product					NA		Standard	NM_178525	NM_178525	NA	Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.393C>T	19.37:g.8808659G>A		NA	A8K893|Q6X960	37	CCDS12207.1																																																																																			ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459953.1		-	ENST00000324436.3	Silent	SNP	19 : 8808659 - 8808659 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	406	82
ABCA9	10350	broad.mit.edu	37	17	66981212	66981212	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66981212T>C	ENST00000340001.4	-	33	4477	c.4266A>G	c.(4264-4266)tcA>tcG	p.S1422S	ABCA9_ENST00000453985.2_Silent_p.S1384S|ABCA9_ENST00000370732.2_Silent_p.S1422S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1422	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TTATTCCCTCTGACAAGGTCT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	112	117			NA	NA	17		NA											NA				66981212		2203	4300	6503	SO:0001819	synonymous_variant			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258	10350	10350		ATP binding cassette transporters / subfamily A	39	protein-coding gene	gene with protein product		612507			NA		Standard	NM_172386	XM_005256934	NA	Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.4266A>G	17.37:g.66981212T>C		NA	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	37	CCDS11681.1																																																																																			ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277072.2		-	ENST00000340001.4	Silent	SNP	17 : 66981212 - 66981212 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	465	90
CEP78	84131	broad.mit.edu	37	9	80866840	80866840	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:80866840A>G	ENST00000424347.2	+	9	1375	c.1086A>G	c.(1084-1086)aaA>aaG	p.K362K	CEP78_ENST00000277082.5_Silent_p.K362K|CEP78_ENST00000376597.4_Silent_p.K363K|CEP78_ENST00000376598.2_Silent_p.K362K|CEP78_ENST00000415759.2_Silent_p.K363K			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	362					G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						CTACAAAGAAACCTGTAAGTA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	49	48			NA	NA	9		NA											NA				80866840		1880	4115	5995	SO:0001819	synonymous_variant			BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019	84131	84131			25740	protein-coding gene	gene with protein product			chromosome 9 open reading frame 81	C9orf81	NA	14654843	Standard	XM_095991	NM_001098802	NA	Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.1086A>G	9.37:g.80866840A>G		NA	A1A4S8|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	37																																																																																				CEP78-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000052766.2		+	ENST00000424347.2	Silent	SNP	9 : 80866840 - 80866840 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	84	13
SMG1	23049	broad.mit.edu	37	16	18840938	18840938	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:18840938C>T	ENST00000446231.2	-	54	9685	c.9273G>A	c.(9271-9273)agG>agA	p.R3091R	SMG1_ENST00000389467.3_Silent_p.R3091R			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3091					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TCAAGAGCTGCCTCACAAAGT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	57	57			NA	NA	16		NA											NA				18840938		1907	4120	6027	SO:0001819	synonymous_variant			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106	23049	23049			30045	protein-coding gene	gene with protein product	phosphatidylinositol 3-kinase-related kinase	607032	smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)		NA	9455477, 11331269, 17229728	Standard	NM_015092	NM_015092	NA	Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.9273G>A	16.37:g.18840938C>T		NA	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	37	CCDS45430.1																																																																																			SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391817.1		-	ENST00000446231.2	Silent	SNP	16 : 18840938 - 18840938 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	191	30
PIK3CD	5293	broad.mit.edu	37	1	9776551	9776551	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9776551C>T	ENST00000377346.4	+	6	849	c.654C>T	c.(652-654)gcC>gcT	p.A218A	PIK3CD_ENST00000361110.2_Silent_p.A218A|PIK3CD_ENST00000536656.1_Silent_p.A218A	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	218					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		CGCTGATGGCCTGTGCCCTGC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	38	41			NA	NA	1		NA											NA				9776551		2203	4300	6503	SO:0001819	synonymous_variant				CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	5293	5293	2.7.1.153		8977	protein-coding gene	gene with protein product	phosphatidylinositol 3-kinase, catalytic, delta polypeptide, phosphoinositide-3-kinase C	602839	phosphoinositide-3-kinase, catalytic, delta polypeptide		NA	9113989, 9455486	Standard	NM_005026	NM_005026	NA	Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.654C>T	1.37:g.9776551C>T		NA	A6NCG0|O15445|Q5SR49	37	CCDS104.1																																																																																			PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000004235.1		+	ENST00000377346.4	Silent	SNP	1 : 9776551 - 9776551 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	236	21
MAMLD1	10046	broad.mit.edu	37	X	149638350	149638350	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149638350G>A	ENST00000370401.2	+	4	815	c.505G>A	c.(505-507)Gtg>Atg	p.V169M	MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000262858.5_Missense_Mutation_p.V169M|MAMLD1_ENST00000432680.2_Missense_Mutation_p.V144M|MAMLD1_ENST00000426613.2_Missense_Mutation_p.V144M			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	169					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.V96L(1)|p.V144L(1)|p.V169L(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AATCAACAGCGTGCCGGCTGT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				3	Substitution - Missense(3)	lung(3)											64	62	63			NA	NA	X		NA											NA				149638350		2203	4300	6503	SO:0001583	missense			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619	10046	10046			2568	protein-coding gene	gene with protein product		300120	chromosome X open reading frame 6	CXorf6	NA	9169146, 17086185, 18162467	Standard	NM_005491	NM_001177465	NA	Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.505G>A	X.37:g.149638350G>A	ENSP00000359428:p.Val169Met	NA	B2RCQ4|B4DG93|B9EGA5	37	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.280684	0.00254	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613	T;T;T;T	0.65178	0.21;-0.14;0.21;0.23	5.36	-10.7	0.00240	.	1.563870	0.03344	N	0.195271	T	0.33235	0.0856	N	0.08118	0	0.09310	N	1	B;B;B;B	0.26258	0.116;0.032;0.002;0.145	B;B;B;B	0.18871	0.023;0.014;0.004;0.014	T	0.30149	-0.9988	10	0.35671	T	0.21	0.5407	6.6423	0.22917	0.6297:0.1798:0.0807:0.1098	.	131;144;144;169	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	M	131;169;144;169;144	ENSP00000359428:V169M;ENSP00000414517:V144M;ENSP00000262858:V169M;ENSP00000397438:V144M	ENSP00000262858:V169M	V	+	1	0	MAMLD1	149389008	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.262000	0.01175	-3.170000	0.00225	-1.158000	0.01797	GTG	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060844.2		+	ENST00000370401.2	Missense_Mutation	SNP	X : 149638350 - 149638350 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	127
TMEM64	169200	broad.mit.edu	37	8	91657382	91657382	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:91657382C>T	ENST00000458549.2	-	1	929	c.752G>A	c.(751-753)aGa>aAa	p.R251K	TMEM64_ENST00000418210.2_Missense_Mutation_p.R251K|TMEM64_ENST00000519519.1_Intron	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64	251						integral to membrane				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			GGGTGTCAGTCTGGCCAGCGC	0.592		NA									OREG0018858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	72	71			NA	NA	8		NA											NA				91657382		2203	4300	6503	SO:0001583	missense			AL834364	CCDS34920.2, CCDS55260.1	8q21.3	2005-08-09			ENSG00000180694	ENSG00000180694	169200	169200			25441	protein-coding gene	gene with protein product					NA		Standard	NM_001008495	NM_001008495	NA	Approved	DKFZp762C1112	uc003yen.2	Q6YI46	OTTHUMG00000157185	ENST00000458549.2:c.752G>A	8.37:g.91657382C>T	ENSP00000414786:p.Arg251Lys	1284	Q2HIZ7|Q8N3G6	37	CCDS34920.2	.	.	.	.	.	.	.	.	.	.	C	35	5.497108	0.96355	.	.	ENSG00000180694	ENST00000458549;ENST00000418210;ENST00000422900	.	.	.	4.11	4.11	0.48088	.	0.000000	0.85682	D	0.000000	D	0.85017	0.5601	M	0.91717	3.235	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.80764	0.994;0.992	D	0.89203	0.3559	9	0.72032	D	0.01	.	16.5351	0.84371	0.0:1.0:0.0:0.0	.	251;251	F5GXM4;Q6YI46	.;TMM64_HUMAN	K	251;251;120	.	ENSP00000411951:R251K	R	-	2	0	TMEM64	91726558	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.277000	0.78572	2.098000	0.63641	0.555000	0.69702	AGA	TMEM64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347825.1		-	ENST00000458549.2	Missense_Mutation	SNP	8 : 91657382 - 91657382 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	467	69
SEMA5A	9037	broad.mit.edu	37	5	9380032	9380032	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:9380032C>T	ENST00000382496.5	-	3	692	c.27G>A	c.(25-27)tgG>tgA	p.W9*	CTD-2201E9.4_ENST00000511310.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	9					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TTGAGAACAGCCATGCTATAA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	110	111			NA	NA	5		NA											NA				9380032		2203	4300	6503	SO:0001587	stop_gained			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902	9037	9037		Semaphorins	10736	protein-coding gene	gene with protein product		609297		SEMAF	NA	8817451, 9464278	Standard		NM_003966	NA	Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.27G>A	5.37:g.9380032C>T	ENSP00000371936:p.Trp9*	NA	D3DTC6|O60408|Q1RLL9	37	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	38	7.079159	0.98048	.	.	ENSG00000112902	ENST00000382496;ENST00000513968	.	.	.	5.43	5.43	0.79202	.	0.100355	0.42821	D	0.000643	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7345	0.69406	0.0:1.0:0.0:0.0	.	.	.	.	X	9	.	ENSP00000371936:W9X	W	-	3	0	SEMA5A	9433032	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	2.511000	0.45476	2.551000	0.86045	0.563000	0.77884	TGG	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206989.2		-	ENST00000382496.5	Nonsense_Mutation	SNP	5 : 9380032 - 9380032 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	587	92
TLE4	7091	broad.mit.edu	37	9	82267698	82267698	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:82267698A>G	ENST00000376552.2	+	7	1599	c.581A>G	c.(580-582)gAt>gGt	p.D194G	TLE4_ENST00000265284.6_Missense_Mutation_p.D169G|TLE4_ENST00000376537.4_Missense_Mutation_p.D194G|TLE4_ENST00000376520.4_Missense_Mutation_p.D194G|TLE4_ENST00000376544.3_Missense_Mutation_p.D194G|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000455913.1_3'UTR	NM_007005.3	NP_008936.2	O60756	BCE1_HUMAN	transducin-like enhancer of split 4	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CATGACAATGATCACCAAAGA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	78	78			NA	NA	9		NA											NA				82267698		1949	4149	6098	SO:0001583	missense			M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829	7091	7091		WD repeat domain containing	11840	protein-coding gene	gene with protein product		605132	transducin-like enhancer of split 4, homolog of Drosophila E(sp1), transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)		NA	8365415	Standard	XM_212237	XM_005252167	NA	Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.581A>G	9.37:g.82267698A>G	ENSP00000365735:p.Asp194Gly	NA		37	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	A	17.61	3.432175	0.62844	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000399288;ENST00000435650;ENST00000376537;ENST00000265284;ENST00000425506;ENST00000428713;ENST00000490347	T;T;T;T;T;T;T;T;T	0.49139	0.82;0.84;0.91;0.79;0.91;0.93;0.79;1.47;1.88	6.04	6.04	0.98038	.	0.254009	0.42420	D	0.000719	T	0.50394	0.1613	L	0.45137	1.4	0.80722	D	1	B;B;P;B	0.38250	0.001;0.122;0.624;0.145	B;B;P;B	0.44772	0.005;0.06;0.46;0.187	T	0.46952	-0.9154	10	0.44086	T	0.13	-21.7834	16.5885	0.84745	1.0:0.0:0.0:0.0	.	169;194;194;194	F8W6T6;Q04727-2;Q04727-3;Q04727	.;.;.;TLE4_HUMAN	G	194;194;194;208;208;194;169;192;179;64	ENSP00000365735:D194G;ENSP00000365727:D194G;ENSP00000365703:D194G;ENSP00000415423:D208G;ENSP00000365720:D194G;ENSP00000265284:D169G;ENSP00000412567:D192G;ENSP00000409313:D179G;ENSP00000417844:D64G	ENSP00000265284:D169G	D	+	2	0	TLE4	81457518	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.672000	0.91181	2.317000	0.78254	0.460000	0.39030	GAT	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052792.4		+	ENST00000376552.2	Missense_Mutation	SNP	9 : 82267698 - 82267698 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	382	67
EPHA2	1969	broad.mit.edu	37	1	16461042	16461042	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16461042A>G	ENST00000358432.5	-	8	1757	c.1603T>C	c.(1603-1605)Ttg>Ctg	p.L535L		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	535					activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	ATCACCGCCAAGTTGCCAGAT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	55	57			NA	NA	1		NA											NA				16461042		2202	4300	6502	SO:0001819	synonymous_variant			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	1969	1969	2.7.10.1	EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3386	protein-coding gene	gene with protein product		176946	EphA2	ECK	NA	9119409	Standard	NM_004431	NM_004431	NA	Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1603T>C	1.37:g.16461042A>G		NA	Q8N3Z2	37	CCDS169.1																																																																																			EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026322.1		-	ENST00000358432.5	Silent	SNP	1 : 16461042 - 16461042 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	192	41
SLC41A1	254428	broad.mit.edu	37	1	205779272	205779272	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205779272G>T	ENST00000367137.3	-	2	1312	c.298C>A	c.(298-300)Ctg>Atg	p.L100M		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	100						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AGTACTTGCAGCCCGATGGAA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	126	130			NA	NA	1		NA											NA				205779272		2203	4300	6503	SO:0001583	missense			AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065	254428	254428		Solute carriers	19429	protein-coding gene	gene with protein product		610801			NA	12810078, 18367447	Standard		NM_173854	NA	Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.298C>A	1.37:g.205779272G>T	ENSP00000356105:p.Leu100Met	NA	Q63HJ4|Q658Z5|Q659A4|Q6MZK2	37	CCDS30988.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003766	0.74932	.	.	ENSG00000133065	ENST00000367137	T	0.32023	1.47	5.64	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.47985	0.1475	L	0.56769	1.78	0.58432	D	0.999997	D	0.61697	0.99	P	0.61800	0.894	T	0.43988	-0.9357	10	0.44086	T	0.13	-7.8851	14.6033	0.68456	0.0714:0.0:0.9286:0.0	.	100	Q8IVJ1	S41A1_HUMAN	M	100	ENSP00000356105:L100M	ENSP00000356105:L100M	L	-	1	2	SLC41A1	204045895	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.473000	0.66774	1.379000	0.46325	0.555000	0.69702	CTG	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087731.1		-	ENST00000367137.3	Missense_Mutation	SNP	1 : 205779272 - 205779272 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	620	147
ZNF100	163227	broad.mit.edu	37	19	21910465	21910465	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21910465G>A	ENST00000358296.6	-	5	847	c.649C>T	c.(649-651)Ctt>Ttt	p.L217F	ZNF100_ENST00000305570.6_Missense_Mutation_p.L153F	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						AGGTGTAAAAGCATGCAAAAT	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	57	56			NA	NA	19		NA											NA				21910465		2066	4230	6296	SO:0001583	missense			BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020	163227	163227		Zinc fingers, C2H2-type, -	12880	protein-coding gene	gene with protein product		603982	zinc finger protein 100 (Y1)		NA	12477932	Standard	NM_173531	NM_173531	NA	Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.649C>T	19.37:g.21910465G>A	ENSP00000351042:p.Leu217Phe	NA	Q7M4M0	37	CCDS42538.1	.	.	.	.	.	.	.	.	.	.	.	2.310	-0.358056	0.05138	.	.	ENSG00000197020	ENST00000358296	T	0.01005	5.45	1.04	-2.09	0.07232	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00784	0.0026	L	0.28649	0.875	0.09310	N	1	B;B	0.21688	0.043;0.059	B;B	0.27715	0.039;0.082	T	0.46555	-0.9183	9	0.08599	T	0.76	.	6.7097	0.23270	0.0:0.0:0.7206:0.2794	.	217;271	Q8IYN0;Q4G131	ZN100_HUMAN;.	F	217	ENSP00000351042:L217F	ENSP00000351042:L217F	L	-	1	0	ZNF100	21702305	.	.	0.006000	0.13384	0.171000	0.22731	.	.	-0.656000	0.05380	0.174000	0.16983	CTT	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464087.1		-	ENST00000358296.6	Missense_Mutation	SNP	19 : 21910465 - 21910465 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	282	44
NAV1	89796	broad.mit.edu	37	1	201757711	201757711	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201757711C>T	ENST00000367302.1	+	12	3268				NAV1_ENST00000367297.4_Silent_p.A1037A|NAV1_ENST00000367295.1_Silent_p.A646A|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367296.4_Silent_p.A1037A|NAV1_ENST00000367300.3_Intron|NAV1_ENST00000295624.6_Silent_p.A1037A			Q8NEY1	NAV1_HUMAN	neuron navigator 1	NA					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGTCCCTGGCCGAGAGACCCA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	108	113			NA	NA	1		NA											NA				201757711		2203	4300	6503	SO:0001627	intron_variant			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369	89796	89796			15989	protein-coding gene	gene with protein product	neuron navigator-1, pore membrane and/or filament interacting like protein 3	611628			NA	12079279, 12062803	Standard	NM_020443	NM_020443	NA	Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367302.1:c.3035-1157C>T	1.37:g.201757711C>T		NA	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	37		.	.	.	.	.	.	.	.	.	.	C	11.07	1.529830	0.27387	.	.	ENSG00000134369	ENST00000430015	.	.	.	5.4	4.49	0.54785	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-34.6555	9.0935	0.36625	0.1482:0.774:0.0:0.0777	.	.	.	.	X	595	.	.	R	+	1	2	NAV1	200024334	0.991000	0.36638	1.000000	0.80357	0.998000	0.95712	0.310000	0.19356	2.526000	0.85167	0.561000	0.74099	CGA	NAV1-006	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000087018.1		+	ENST00000367302.1	Intron	SNP	1 : 201757711 - 201757711 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	645	126
PCDH15	65217	broad.mit.edu	37	10	56129000	56129000	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:56129000G>A	ENST00000373965.2	-	5	748	c.354C>T	c.(352-354)gtC>gtT	p.V118V	PCDH15_ENST00000395432.2_Silent_p.V118V|PCDH15_ENST00000395430.1_Silent_p.V118V|PCDH15_ENST00000395442.1_Silent_p.V118V|PCDH15_ENST00000395438.1_Silent_p.V118V|PCDH15_ENST00000414778.1_Silent_p.V123V|PCDH15_ENST00000395440.1_Silent_p.V118V|PCDH15_ENST00000395446.1_Silent_p.V118V|PCDH15_ENST00000395445.1_Silent_p.V118V|PCDH15_ENST00000437009.1_Silent_p.V118V|PCDH15_ENST00000320301.6_Silent_p.V118V|PCDH15_ENST00000361849.3_Silent_p.V118V|PCDH15_ENST00000373955.1_Silent_p.V118V|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395433.1_Silent_p.V96V|PCDH15_ENST00000373957.3_Silent_p.V96V	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	118	Cadherin 1.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGATGCACTGGACCTGCACCA	0.398		NA								HNSCC(58;0.16)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	103	112			NA	NA	10		NA											NA				56129000		2203	4300	6503	SO:0001819	synonymous_variant			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275	65217	65217		Cadherins / Cadherin-related	14674	protein-coding gene	gene with protein product	cadherin-related family member 15	605514	deafness, autosomal recessive 23, protocadherin 15	USH1F, DFNB23	NA	11398101, 14570705	Standard	NM_033056	NM_033056	NA	Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.354C>T	10.37:g.56129000G>A		NA	A6NL19|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	37																																																																																				PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000291336.1		-	ENST00000373965.2	Silent	SNP	10 : 56129000 - 56129000 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	255	52
FASN	2194	broad.mit.edu	37	17	80037394	80037394	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80037394G>A	ENST00000306749.2	-	42	7455	c.7237C>T	c.(7237-7239)Cgc>Tgc	p.R2413C	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2413	Thioesterase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	AGCTCCTGGCGGTCCAGGCCC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(59;314 1043 11189 28578 32273)							NA				0													67	58	61			NA	NA	17		NA											NA				80037394		2203	4298	6501	SO:0001583	missense			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2194	2194	2.3.1.85	Short chain dehydrogenase/reductase superfamily / Atypical members	3594	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 27X, member 1	600212			NA	7835891, 7567999, 19027726	Standard	NM_004104	NM_004104	NA	Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.7237C>T	17.37:g.80037394G>A	ENSP00000304592:p.Arg2413Cys	NA	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	37	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484493	0.63962	.	.	ENSG00000169710	ENST00000306749	T	0.27402	1.67	4.16	2.13	0.27403	Fatty acid synthase, domain 2 (1);Thioesterase (1);	0.618907	0.15836	N	0.242275	T	0.48059	0.1479	M	0.70842	2.15	0.47994	D	0.999565	D	0.76494	0.999	P	0.61477	0.889	T	0.46442	-0.9191	10	0.66056	D	0.02	-12.1525	10.2149	0.43162	0.166:0.0:0.834:0.0	.	2413	P49327	FAS_HUMAN	C	2413	ENSP00000304592:R2413C	ENSP00000304592:R2413C	R	-	1	0	FASN	77630683	1.000000	0.71417	0.410000	0.26471	0.899000	0.52679	4.264000	0.58859	0.500000	0.27991	0.561000	0.74099	CGC	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442369.1		-	ENST00000306749.2	Missense_Mutation	SNP	17 : 80037394 - 80037394 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	519	96
PTPN13	5783	broad.mit.edu	37	4	87622493	87622493	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:87622493C>T	ENST00000427191.2	+	7	1214	c.734C>T	c.(733-735)tCc>tTc	p.S245F	PTPN13_ENST00000436978.1_Missense_Mutation_p.S245F|PTPN13_ENST00000316707.6_Missense_Mutation_p.S245F|PTPN13_ENST00000411767.2_Missense_Mutation_p.S245F|PTPN13_ENST00000511467.1_Missense_Mutation_p.S245F	NM_006264.2	NP_006255.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	245						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GGATTTCTGTCCATCAAAGAT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	47	49			NA	NA	4		NA											NA				87622493		1821	4080	5901	SO:0001583	missense				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629	NA	5783		Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor	9646	protein-coding gene	gene with protein product		600267			NA	8287977	Standard		NM_006264	NA	Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000427191.2:c.734C>T	4.37:g.87622493C>T	ENSP00000408368:p.Ser245Phe	NA	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	37	CCDS47095.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889809	0.72524	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	5.55	5.55	0.83447	.	0.150735	0.31010	N	0.008434	T	0.55210	0.1906	L	0.57536	1.79	0.38638	D	0.951532	D;D;D;D	0.64830	0.994;0.991;0.984;0.991	P;P;P;P	0.59643	0.832;0.861;0.73;0.861	T	0.58132	-0.7690	10	0.59425	D	0.04	.	19.5071	0.95124	0.0:1.0:0.0:0.0	.	245;245;245;245	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	F	245;245;245;245;245;213	ENSP00000408368:S245F;ENSP00000394794:S245F;ENSP00000322675:S245F;ENSP00000407249:S245F;ENSP00000426626:S245F	ENSP00000322675:S245F	S	+	2	0	PTPN13	87841517	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.359000	0.66074	2.617000	0.88574	0.557000	0.71058	TCC	PTPN13-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363189.1		+	ENST00000427191.2	Missense_Mutation	SNP	4 : 87622493 - 87622493 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	95	15
MAN2A1	4124	broad.mit.edu	37	5	109190997	109190997	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:109190997G>A	ENST00000261483.4	+	20	4185	c.3133G>A	c.(3133-3135)Gac>Aac	p.D1045N	MAN2A1_ENST00000505313.1_3'UTR	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1045					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TTTGCCTTGTGACATTCATCT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	116	124			NA	NA	5		NA											NA				109190997		2202	4300	6502	SO:0001583	missense				CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	4124	4124	3.2.1.114		6824	protein-coding gene	gene with protein product	golgi integral membrane protein 7	154582		MANA2	NA	1757461, 15004235	Standard		NM_002372	NA	Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.3133G>A	5.37:g.109190997G>A	ENSP00000261483:p.Asp1045Asn	NA	Q16767	37	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	G	33	5.283360	0.95489	.	.	ENSG00000112893	ENST00000261483	D	0.82803	-1.65	6.03	6.03	0.97812	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.92635	0.7660	M	0.88570	2.965	0.80722	D	1	P	0.50066	0.931	P	0.62649	0.905	D	0.92695	0.6170	10	0.72032	D	0.01	-19.9166	20.5568	0.99304	0.0:0.0:1.0:0.0	.	1045	Q16706	MA2A1_HUMAN	N	1045	ENSP00000261483:D1045N	ENSP00000261483:D1045N	D	+	1	0	MAN2A1	109218896	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.029000	0.88807	2.861000	0.98227	0.655000	0.94253	GAC	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370680.1		+	ENST00000261483.4	Missense_Mutation	SNP	5 : 109190997 - 109190997 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	214	35
SFRP2	6423	broad.mit.edu	37	4	154702681	154702681	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154702681G>A	ENST00000274063.4	-	3	1094	c.810C>T	c.(808-810)atC>atT	p.I270I		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	270	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				TCACCGAGGTGATCACCAGCT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	107	120			NA	NA	4		NA											NA				154702681		2203	4300	6503	SO:0001819	synonymous_variant			AF017986	CCDS34082.1	4q31.3	2008-08-29			ENSG00000145423	ENSG00000145423	6423	6423		Secreted frizzled-related proteins	10777	protein-coding gene	gene with protein product		604157			NA	9391078	Standard		NM_003013	NA	Approved	SARP1, SDF-5, FRP-2	uc003inv.1	Q96HF1	OTTHUMG00000161559	ENST00000274063.4:c.810C>T	4.37:g.154702681G>A		NA	B3KQR2|O14778|Q9HAP5	37	CCDS34082.1																																																																																			SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365296.1		-	ENST00000274063.4	Silent	SNP	4 : 154702681 - 154702681 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	377	72
TMEM74	157753	broad.mit.edu	37	8	109796947	109796947	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:109796947C>T	ENST00000297459.3	-	2	559	c.381G>A	c.(379-381)tcG>tcA	p.S127S	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	127					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			TTGCTGATGGCGAGCTCCGGT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	80	79			NA	NA	8		NA											NA				109796947		2203	4300	6503	SO:0001819	synonymous_variant			AK055230	CCDS6310.1	8q23.1	2009-11-06				ENSG00000164841	157753	157753			26409	protein-coding gene	gene with protein product		613935			NA	12477932	Standard	NM_153015	NM_153015	NA	Approved	FLJ30668, NET36	uc003ymy.1	Q96NL1		ENST00000297459.3:c.381G>A	8.37:g.109796947C>T		NA		37	CCDS6310.1																																																																																			TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380755.1		-	ENST00000297459.3	Silent	SNP	8 : 109796947 - 109796947 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	504	95
H6PD	9563	broad.mit.edu	37	1	9324884	9324884	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9324884G>A	ENST00000377403.2	+	5	2634	c.2332G>A	c.(2332-2334)Ggc>Agc	p.G778S	H6PD_ENST00000602477.1_Missense_Mutation_p.G789S	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	778	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	GCCGCACTCCGGCCAGCTGGT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	28	27			NA	NA	1		NA											NA				9324884		2190	4277	6467	SO:0001583	missense			AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	9563	9563	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	glucose dehyrogenase	GDH	NA	10349511	Standard	NM_004285	NM_001282587	NA	Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.2332G>A	1.37:g.9324884G>A	ENSP00000366620:p.Gly778Ser	NA	Q4TT33|Q66I35|Q68DT3	37	CCDS101.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516153	0.64634	.	.	ENSG00000049239	ENST00000377403	D	0.98617	-5.03	5.73	5.73	0.89815	6-phosphogluconolactonase, DevB-type (1);	0.000000	0.85682	D	0.000000	D	0.98444	0.9482	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.70016	0.967	D	0.99913	1.1211	10	0.72032	D	0.01	-39.1146	18.894	0.92416	0.0:0.0:1.0:0.0	.	778	O95479	G6PE_HUMAN	S	778	ENSP00000366620:G778S	ENSP00000366620:G778S	G	+	1	0	H6PD	9247471	1.000000	0.71417	0.935000	0.37517	0.006000	0.05464	7.600000	0.82769	2.716000	0.92895	0.561000	0.74099	GGC	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000004928.2		+	ENST00000377403.2	Missense_Mutation	SNP	1 : 9324884 - 9324884 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	287	21
ATP6V0A1	535	broad.mit.edu	37	17	40646415	40646415	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40646415G>A	ENST00000343619.4	+	12	1361	c.1238G>A	c.(1237-1239)gGc>gAc	p.G413D	ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.G413D|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.G370D|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.G59D|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.G420D|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.G413D|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.G370D	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	413					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TTCGGTCATGGCATTTTAATG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													186	166	173			NA	NA	17		NA											NA				40646415		2203	4300	6503	SO:0001583	missense			U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627	535	535		ATPases / V-type	865	protein-coding gene	gene with protein product		192130	ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD), ATPase, H+ transporting, lysosomal V0 subunit a isoform 1, ATPase, H+ transporting, lysosomal V0 subunit A1	VPP1, ATP6N1, ATP6N1A	NA	7774924	Standard	NM_001130020	NM_001130020	NA	Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.1238G>A	17.37:g.40646415G>A	ENSP00000342951:p.Gly413Asp	NA	Q8N5G7|Q9NSX0	37	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	G	35	5.419759	0.96111	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728;ENST00000544137	D;D;D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47;-3.47;-3.47	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.98544	0.9514	H	0.98199	4.17	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.99437	1.0937	10	0.87932	D	0	-13.4495	19.6278	0.95687	0.0:0.0:1.0:0.0	.	370;370;420;413;413	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	D	413;413;413;420;370;59	ENSP00000342951:G413D;ENSP00000444676:G413D;ENSP00000377415:G413D;ENSP00000264649:G420D;ENSP00000443991:G370D;ENSP00000446377:G59D	ENSP00000264649:G420D	G	+	2	0	ATP6V0A1	37899941	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.801000	0.99128	2.646000	0.89796	0.561000	0.74099	GGC	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450364.1		+	ENST00000343619.4	Missense_Mutation	SNP	17 : 40646415 - 40646415 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	443	85
PLEKHA7	144100	broad.mit.edu	37	11	16811333	16811333	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16811333C>T	ENST00000531066.1	-	22	3186	c.3145G>A	c.(3145-3147)Gcg>Acg	p.A1049T	PLEKHA7_ENST00000355661.3_Missense_Mutation_p.A1049T|PLEKHA7_ENST00000532079.1_Silent_p.R55R|PLEKHA7_ENST00000332954.4_5'UTR|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.A1050T			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	1049					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GGGAAGGTCGCCTTGCTGCTT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	106	118			NA	NA	11		NA											NA				16811333		2200	4294	6494	SO:0001583	missense			BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689	144100	144100		Pleckstrin homology (PH) domain containing	27049	protein-coding gene	gene with protein product		612686			NA	12477932	Standard	NM_175058	NM_175058	NA	Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000531066.1:c.3145G>A	11.37:g.16811333C>T	ENSP00000435389:p.Ala1049Thr	NA	B4DK33|B4DWC3|Q86VZ7	37		.	.	.	.	.	.	.	.	.	.	C	9.232	1.036085	0.19590	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080	T;T;T	0.06528	3.29;3.3;3.3	5.69	-0.19	0.13256	.	1.321840	0.04514	N	0.383466	T	0.03305	0.0096	N	0.08118	0	0.28840	N	0.896653	B;B;B;B;B	0.23990	0.02;0.023;0.057;0.095;0.008	B;B;B;B;B	0.18871	0.018;0.01;0.01;0.023;0.022	T	0.40701	-0.9549	10	0.05525	T	0.97	-0.3836	9.7991	0.40753	0.0:0.5945:0.0:0.4055	.	624;1049;1049;1050;166	Q6IQ23-3;E9PKC0;Q6IQ23;Q6IQ23-2;Q8IUS9	.;.;PKHA7_HUMAN;.;.	T	1049;1049;1050	ENSP00000435389:A1049T;ENSP00000347883:A1049T;ENSP00000416895:A1050T	ENSP00000347883:A1049T	A	-	1	0	PLEKHA7	16767909	0.980000	0.34600	0.775000	0.31657	0.897000	0.52465	0.091000	0.15046	-0.200000	0.10300	0.655000	0.94253	GCG	PLEKHA7-002	PUTATIVE	not_organism_supported|basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000387236.1		-	ENST00000531066.1	Missense_Mutation	SNP	11 : 16811333 - 16811333 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	175	31
CYP1B1	1545	broad.mit.edu	37	2	38298132	38298132	+	Silent	SNP	G	G	A	rs139251365		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:38298132G>A	ENST00000260630.3	-	3	1766	c.1365C>T	c.(1363-1365)gaC>gaT	p.D455D	CYP1B1_ENST00000407341.1_Silent_p.D455D|CYP1B1_ENST00000494864.1_5'UTR	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	455					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	TGCTGGTCAGGTCCTTGTTGA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4405	2.1+/-5.4	0,1,2202	83	78	79		1365	0.8	1	2	dbSNP_134	79	0,8600		0,0,4300	no	coding-synonymous	CYP1B1	NM_000104.3		0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077		455/544	38298132	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			U56438	CCDS1793.1	2p22.2	2008-02-05	2003-01-14		ENSG00000138061	ENSG00000138061	1545	1545		Cytochrome P450s	2597	protein-coding gene	gene with protein product		601771	cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)	GLC3A	NA	8175734, 15128046	Standard	NM_000104	NM_000104	NA	Approved	CP1B	uc002rqo.2	Q16678	OTTHUMG00000100970	ENST00000260630.3:c.1365C>T	2.37:g.38298132G>A		NA	Q5TZW8|Q93089|Q9H316	37	CCDS1793.1																																																																																			CYP1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000218580.3		-	ENST00000260630.3	Silent	SNP	2 : 38298132 - 38298132 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	362	66
MPEG1	219972	broad.mit.edu	37	11	58980176	58980176	+	Missense_Mutation	SNP	G	G	A	rs149377168	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58980176G>A	ENST00000361050.3	-	1	248	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	55	MACPF.					integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				TCCACATTCCGCAGATTGTCC	0.488		NA											G	1	5e-04	NA	NA	2184	NA	0.9998	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.8415	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0								G	TRP/ARG	1,4029		0,1,2014	158	158	158		163	2.1	1	11	dbSNP_134	158	8,8346		0,8,4169	yes	missense	MPEG1	NM_001039396.1	101	0,9,6183	AA,AG,GG	NA	0.0958,0.0248,0.0727	probably-damaging	55/717	58980176	9,12375	2015	4177	6192	SO:0001583	missense			AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629	219972	219972			29619	protein-coding gene	gene with protein product	macrophage expressed gene 1	610390			NA	7888681, 23257510	Standard	NM_001039396	NM_001039396	NA	Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.163C>T	11.37:g.58980176G>A	ENSP00000354335:p.Arg55Trp	NA	Q2M1T6|Q8TEF8	37	CCDS41650.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.79	3.221692	0.58560	2.48E-4	9.58E-4	ENSG00000197629	ENST00000361050;ENST00000545098	T	0.30182	1.54	5.41	2.07	0.26955	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	T	0.54515	0.1863	M	0.81497	2.545	0.41927	D	0.990546	D	0.89917	1.0	D	0.81914	0.995	T	0.61257	-0.7099	10	0.87932	D	0	-28.9473	12.4979	0.55940	0.0:0.0:0.5087:0.4913	.	55	Q2M385	MPEG1_HUMAN	W	55	ENSP00000354335:R55W	ENSP00000354335:R55W	R	-	1	2	MPEG1	58736752	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	1.800000	0.38833	0.603000	0.29913	0.644000	0.83932	CGG	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370027.1		-	ENST00000361050.3	Missense_Mutation	SNP	11 : 58980176 - 58980176 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	984	197
NR1H4	9971	broad.mit.edu	37	12	100930822	100930822	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100930822C>A	ENST00000548884.1	+	8	1457	c.916C>A	c.(916-918)Cca>Aca	p.P306T	NR1H4_ENST00000551379.1_Missense_Mutation_p.P320T|NR1H4_ENST00000392986.3_Missense_Mutation_p.P310T|NR1H4_ENST00000188403.7_Missense_Mutation_p.P316T|NR1H4_ENST00000549996.1_Missense_Mutation_p.P259T	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	320	Ligand-binding.				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						AAAAAAGCTACCAGGTATTTT	0.284		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	64	60			NA	NA	12		NA											NA				100930822		2183	4278	6461	SO:0001583	missense			U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504	9971	9971		Nuclear hormone receptors	7967	protein-coding gene	gene with protein product		603826			NA	7774010, 9223286	Standard	NM_005123	NM_001206977	NA	Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000548884.1:c.916C>A	12.37:g.100930822C>A	ENSP00000448506:p.Pro306Thr	NA	A1L4K5|B7Z412|B7ZM06|Q8NFP5|Q8NFP6|Q92943	37	CCDS9078.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.773555	0.69992	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000549996;ENST00000551379;ENST00000188403	D;D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3;-5.3	4.76	4.76	0.60689	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.99345	0.9770	M	0.90705	3.14	0.80722	D	1	P;P;P;P;P	0.49185	0.764;0.92;0.597;0.649;0.919	B;P;B;B;P	0.61533	0.294;0.89;0.228;0.317;0.69	D	0.98789	1.0735	10	0.87932	D	0	.	18.1305	0.89599	0.0:1.0:0.0:0.0	.	259;320;316;310;306	F8VYG8;Q96RI1;Q96RI1-4;F1DAL1;B6ZGS9	.;NR1H4_HUMAN;.;.;.	T	306;310;259;320;316	ENSP00000448506:P306T;ENSP00000376712:P310T;ENSP00000448978:P259T;ENSP00000447149:P320T;ENSP00000188403:P316T	ENSP00000188403:P316T	P	+	1	0	NR1H4	99454953	1.000000	0.71417	0.964000	0.40570	0.555000	0.35460	7.190000	0.77755	2.318000	0.78349	0.585000	0.79938	CCA	NR1H4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408677.2		+	ENST00000548884.1	Missense_Mutation	SNP	12 : 100930822 - 100930822 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	606	99
DLEC1	9940	broad.mit.edu	37	3	38158136	38158136	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38158136A>C	ENST00000308059.6	+	28	4070	c.4049A>C	c.(4048-4050)gAa>gCa	p.E1350A	DLEC1_ENST00000346219.3_Missense_Mutation_p.E1350A|DLEC1_ENST00000452631.2_Missense_Mutation_p.E1353A			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1350					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TTCAGCCATGAAACTGACTCA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	57	57			NA	NA	3		NA											NA				38158136		1949	4133	6082	SO:0001583	missense			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226	9940	9940			2899	protein-coding gene	gene with protein product	cilia and flagella associated protein 81	604050			NA	10213508	Standard	NM_007337	XM_005265630	NA	Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.4049A>C	3.37:g.38158136A>C	ENSP00000308597:p.Glu1350Ala	NA	Q9NSW0|Q9NTG5	37	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	A	2.900	-0.227715	0.06022	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05447	3.46;3.44;3.68	4.65	0.865	0.19074	.	1.823620	0.02868	N	0.131149	T	0.07143	0.0181	L	0.50333	1.59	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.001	T	0.44907	-0.9297	10	0.09084	T	0.74	0.0041	6.243	0.20801	0.4328:0.456:0.1112:0.0	.	1353;1350;1350;1350	F8W6T4;B7ZW06;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	A	1350;1350;1353	ENSP00000308597:E1350A;ENSP00000315914:E1350A;ENSP00000410427:E1353A	ENSP00000308597:E1350A	E	+	2	0	DLEC1	38133140	0.000000	0.05858	0.001000	0.08648	0.075000	0.17131	0.352000	0.20113	0.302000	0.22762	0.260000	0.18958	GAA	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253745.3		+	ENST00000308059.6	Missense_Mutation	SNP	3 : 38158136 - 38158136 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	545	104
SOS1	6654	broad.mit.edu	37	2	39249909	39249909	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39249909G>A	ENST00000395038.2	-	10	1687	c.1660C>T	c.(1660-1662)Ctt>Ttt	p.L554F	SOS1_ENST00000426016.1_Missense_Mutation_p.L554F|SOS1_ENST00000402219.2_Missense_Mutation_p.L554F			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	554					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				GTTACATCAAGCATCCTTTCC	0.398		NA							Noonan syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	151	154			NA	NA	2		NA											NA				39249909		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	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904	6654	6654		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	11187	protein-coding gene	gene with protein product		182530	gingival fibromatosis, hereditary, 1	GINGF	NA	8276400, 10995566	Standard	NM_005633	NM_005633	NA	Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000395038.2:c.1660C>T	2.37:g.39249909G>A	ENSP00000378479:p.Leu554Phe	NA	A8K2G3	37		.	.	.	.	.	.	.	.	.	.	G	18.06	3.539986	0.65085	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	D;D;D	0.88431	-2.38;-2.38;-2.38	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.93831	0.8027	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93779	0.7082	10	0.87932	D	0	.	7.5761	0.27937	0.195:0.0:0.805:0.0	.	286;554	F5GX06;Q07889	.;SOS1_HUMAN	F	554;554;286;554;554	ENSP00000387784:L554F;ENSP00000384675:L554F;ENSP00000378479:L554F	ENSP00000263879:L554F	L	-	1	0	SOS1	39103413	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.019000	0.49635	2.722000	0.93159	0.557000	0.71058	CTT	SOS1-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000331649.1		-	ENST00000395038.2	Missense_Mutation	SNP	2 : 39249909 - 39249909 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	612	150
NMBR	4829	broad.mit.edu	37	6	142409766	142409766	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:142409766C>T	ENST00000258042.1	-	1	170	c.30G>A	c.(28-30)tcG>tcA	p.S10S	RP11-137J7.2_ENST00000454401.1_RNA	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	10					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CGGTGGTCACCGAGAGGTTGG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	30	29			NA	NA	6		NA											NA				142409766		2203	4299	6502	SO:0001819	synonymous_variant				CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577	4829	4829		GPCR / Class A : Bombesin receptors	7843	protein-coding gene	gene with protein product	bombesin receptor 1	162341			NA		Standard		NM_002511	NA	Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.30G>A	6.37:g.142409766C>T		NA	Q5VUK8	37	CCDS5196.1																																																																																			NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042479.1		-	ENST00000258042.1	Silent	SNP	6 : 142409766 - 142409766 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	201	43
HLA-DQA2	3118	broad.mit.edu	37	6	32713601	32713601	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32713601C>A	ENST00000374940.3	+	3	467	c.365C>A	c.(364-366)cCt>cAt	p.P122H		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	122	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	p.P122L(1)		endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCCAAGTTTCCTGTGACGCTG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											183	143	157			NA	NA	6		NA											NA				32713601		1511	2709	4220	SO:0001583	missense				CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541	3118	3118		Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing	4943	protein-coding gene	gene with protein product		613503		HLA-DXA	NA		Standard	NM_020056	NM_020056	NA	Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.365C>A	6.37:g.32713601C>A	ENSP00000364076:p.Pro122His	NA	A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	37	CCDS4753.1	.	.	.	.	.	.	.	.	.	.	.	9.674	1.147399	0.21288	.	.	ENSG00000237541	ENST00000374940	T	0.03181	4.02	3.06	3.06	0.35304	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	0.262799	0.32328	U	0.006247	T	0.14056	0.0340	M	0.93150	3.385	0.19575	N	0.999962	D	0.89917	1.0	D	0.97110	1.0	T	0.03112	-1.1071	10	0.87932	D	0	.	11.8979	0.52665	0.0:1.0:0.0:0.0	.	122	P01906	DQA2_HUMAN	H	122	ENSP00000364076:P122H	ENSP00000364076:P122H	P	+	2	0	HLA-DQA2	32821579	0.052000	0.20516	0.689000	0.30133	0.038000	0.13279	1.998000	0.40796	1.700000	0.51204	0.174000	0.16983	CCT	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076179.2		+	ENST00000374940.3	Missense_Mutation	SNP	6 : 32713601 - 32713601 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	555	98
NDUFV1	4723	broad.mit.edu	37	11	67376922	67376922	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67376922G>T	ENST00000322776.6	+	4	479		c.e4-1		NDUFV1_ENST00000415352.2_Splice_Site|NDUFV1_ENST00000526169.1_Splice_Site|NDUFV1_ENST00000529927.1_Splice_Site|NDUFV1_ENST00000532303.1_Splice_Site	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	NA					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	GGCCCCTGCAGGCCCAAGTAT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	53	49			NA	NA	11		NA											NA				67376922		2198	4294	6492	SO:0001630	splice_region_variant			AF092131	CCDS8173.1, CCDS53669.1	11q13	2011-07-04	2002-08-29		ENSG00000167792	ENSG00000167792	4723	4723	1.6.5.3	Mitochondrial respiratory chain complex / Complex I	7716	protein-coding gene	gene with protein product	complex I 51kDa subunit, NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial	161015	NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)		NA	1478657	Standard	NM_007103	NM_007103	NA	Approved	CI-51K	uc001omj.2	P49821	OTTHUMG00000166215	ENST00000322776.6:c.327-1G>T	11.37:g.67376922G>T		NA	O60924|O60940|Q16104|Q6IBR3|Q96BF8|Q96HS7	37	CCDS8173.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.008643	0.54361	.	.	ENSG00000167792	ENST00000322776;ENST00000532303;ENST00000532244;ENST00000529927;ENST00000532343;ENST00000415352;ENST00000533075;ENST00000529867;ENST00000530638;ENST00000528314	.	.	.	4.17	4.17	0.49024	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.095	0.65016	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NDUFV1	67133498	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	9.494000	0.97962	2.174000	0.68829	0.555000	0.69702	.	NDUFV1-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388406.1	Intron	+	ENST00000322776.6	Splice_Site	SNP	11 : 67376922 - 67376922 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	608	100
TAF1B	9014	broad.mit.edu	37	2	10045080	10045080	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10045080C>A	ENST00000263663.5	+	9	1088	c.900C>A	c.(898-900)tgC>tgA	p.C300*	TAF1B_ENST00000396242.3_Nonsense_Mutation_p.C45*	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	300					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTGAAGACTGCTATCTTCATC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	110	114			NA	NA	2		NA											NA				10045080		2203	4300	6503	SO:0001587	stop_gained			L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750	9014	9014			11533	protein-coding gene	gene with protein product		604904	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD		NA	7801123	Standard	NM_005680	NM_005680	NA	Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.900C>A	2.37:g.10045080C>A	ENSP00000263663:p.Cys300*	NA	Q15574|Q8WVC3	37	CCDS33143.1	.	.	.	.	.	.	.	.	.	.	C	37	6.576971	0.97676	.	.	ENSG00000115750	ENST00000263663;ENST00000396242	.	.	.	5.67	4.69	0.59074	.	0.183950	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-19.1512	9.6841	0.40087	0.0:0.8161:0.0:0.1839	.	.	.	.	X	300;45	.	.	C	+	3	2	TAF1B	9962531	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.293000	0.33353	2.673000	0.90976	0.467000	0.42956	TGC	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323426.2		+	ENST00000263663.5	Nonsense_Mutation	SNP	2 : 10045080 - 10045080 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	531	93
TLR5	7100	broad.mit.edu	37	1	223284113	223284113	+	Missense_Mutation	SNP	A	A	C	rs150499113		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223284113A>C	ENST00000540964.1	-	4	2722	c.2261T>G	c.(2260-2262)aTc>aGc	p.I754S	TLR5_ENST00000342210.6_Missense_Mutation_p.I754S			O60602	TLR5_HUMAN	toll-like receptor 5	754	TIR.		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AAGACAAACGATCTTTCTACT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	84	87			NA	NA	1		NA											NA				223284113		2203	4300	6503	SO:0001583	missense				CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554	7100	7100			11851	protein-coding gene	gene with protein product	Toll/interleukin-1 receptor-like protein 3	603031	systemic lupus erythematosus susceptibility 1	SLEB1	NA	9435236, 16027372	Standard	NM_003268	NM_003268	NA	Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.2261T>G	1.37:g.223284113A>C	ENSP00000440643:p.Ile754Ser	NA	B1AZ05|B3Y633|D3DTB8|O15456|Q32MI3	37	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	A	9.988	1.229929	0.22542	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.02446	4.29;4.29;4.29	5.81	0.124	0.14714	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.406828	0.23030	N	0.052754	T	0.02649	0.0080	N	0.21282	0.65	0.09310	N	0.999992	B	0.14438	0.01	B	0.25987	0.065	T	0.41734	-0.9492	10	0.72032	D	0.01	.	10.65	0.45642	0.2819:0.0:0.7181:0.0	.	754	O60602	TLR5_HUMAN	S	754	ENSP00000440643:I754S;ENSP00000355846:I754S;ENSP00000340089:I754S	ENSP00000340089:I754S	I	-	2	0	TLR5	221350736	0.990000	0.36364	0.000000	0.03702	0.361000	0.29550	2.851000	0.48302	0.028000	0.15324	-0.280000	0.10049	ATC	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding			-	ENST00000540964.1	Missense_Mutation	SNP	1 : 223284113 - 223284113 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	251	66
ADAMTS14	140766	broad.mit.edu	37	10	72496502	72496502	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:72496502A>G	ENST00000373208.1	+	10	1561	c.1561A>G	c.(1561-1563)Acc>Gcc	p.T521A	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.T518A	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	518	Disintegrin.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CTTCTGCAAGACCAAGAAGGG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	78	82			NA	NA	10		NA											NA				72496502		2203	4300	6503	SO:0001583	missense			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316	140766	140766		ADAM metallopeptidases with thrombospondin type 1 motif	14899	protein-coding gene	gene with protein product		607506	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14		NA	11779638	Standard	NM_080722	NM_139155	NA	Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373208.1:c.1561A>G	10.37:g.72496502A>G	ENSP00000362304:p.Thr521Ala	NA	Q5T4G0|Q8TE55|Q8TEY8	37	CCDS7307.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.440456	0.83993	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.71817	-0.6;-0.6	3.9	3.9	0.45041	.	0.000000	0.85682	D	0.000000	D	0.83482	0.5264	M	0.80746	2.51	0.50632	D	0.999885	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.97110	1.0;0.976;0.996	D	0.86221	0.1631	10	0.87932	D	0	.	13.4353	0.61079	1.0:0.0:0.0:0.0	.	451;518;521	Q8WXS8-2;Q8WXS8;Q5T4G1	.;ATS14_HUMAN;.	A	521;518	ENSP00000362304:T521A;ENSP00000362303:T518A	ENSP00000362303:T518A	T	+	1	0	ADAMTS14	72166508	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.087000	0.94110	1.993000	0.58246	0.383000	0.25322	ACC	ADAMTS14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048521.1		+	ENST00000373208.1	Missense_Mutation	SNP	10 : 72496502 - 72496502 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	360	47
MBD5	55777	broad.mit.edu	37	2	149247325	149247325	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149247325C>T	ENST00000407073.1	+	12	4422	c.3425C>T	c.(3424-3426)gCg>gTg	p.A1142V	MBD5_ENST00000404807.1_Missense_Mutation_p.A1375V	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1142						chromosome|nucleus	chromatin binding|DNA binding	p.A1142V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GCTGTCAGTGCGGTCATTCAT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											89	89	89			NA	NA	2		NA											NA				149247325		2203	4300	6503	SO:0001583	missense			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406	NA	55777			20444	protein-coding gene	gene with protein product		611472			NA	12529184	Standard		NM_018328	NA	Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.3425C>T	2.37:g.149247325C>T	ENSP00000386049:p.Ala1142Val	NA	A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	37	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656975	0.67586	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.51071	0.72;0.8	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000008	T	0.57036	0.2026	N	0.24115	0.695	0.42409	D	0.992599	D;D	0.89917	1.0;0.999	D;D	0.66716	0.946;0.922	T	0.60885	-0.7174	10	0.87932	D	0	-4.5322	19.6982	0.96039	0.0:1.0:0.0:0.0	.	1375;1142	E9PHH0;Q9P267	.;MBD5_HUMAN	V	1142;1375	ENSP00000386049:A1142V;ENSP00000384672:A1375V	ENSP00000384672:A1375V	A	+	2	0	MBD5	148963795	1.000000	0.71417	0.982000	0.44146	0.999000	0.98932	5.016000	0.64041	2.894000	0.99253	0.655000	0.94253	GCG	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318111.2		+	ENST00000407073.1	Missense_Mutation	SNP	2 : 149247325 - 149247325 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	120
RUFY1	80230	broad.mit.edu	37	5	178987118	178987118	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178987118G>T	ENST00000319449.4	+	2	415	c.403G>T	c.(403-405)Ggc>Tgc	p.G135C	RUFY1_ENST00000437570.2_Missense_Mutation_p.G27C|RUFY1_ENST00000377001.2_Missense_Mutation_p.G135C|RUFY1_ENST00000393438.2_Missense_Mutation_p.G27C	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	135					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGAGCCTGGGCCGCAGCCT	0.577		NA								HNSCC(44;0.11)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	54	58			NA	NA	5		NA											NA				178987118		2203	4300	6503	SO:0001583	missense			AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783	80230	80230		Zinc fingers, FYVE domain containing	19760	protein-coding gene	gene with protein product		610327			NA	11877430	Standard	NM_001040451	NM_001040451	NA	Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.403G>T	5.37:g.178987118G>T	ENSP00000325594:p.Gly135Cys	NA	Q59FF3|Q71S93|Q9H6I3	37	CCDS4445.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.494453|5.494453	0.96339|0.96339	.|.	.|.	ENSG00000176783|ENSG00000176783	ENST00000319449;ENST00000377001;ENST00000437570;ENST00000393438|ENST00000502984	T;T;T;T|.	0.12465|.	2.68;2.68;2.68;2.68|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.047726|.	0.85682|.	D|.	0.000000|.	T|T	0.81828|0.81828	0.4905|0.4905	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.82051|0.82051	-0.0649|-0.0649	10|5	0.87932|.	D|.	0|.	-17.8433|-17.8433	19.5387|19.5387	0.95266|0.95266	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	135|.	Q96T51|.	RUFY1_HUMAN|.	C|C	135;135;27;27|92	ENSP00000325594:G135C;ENSP00000366200:G135C;ENSP00000390025:G27C;ENSP00000377087:G27C|.	ENSP00000325594:G135C|.	G|W	+|+	1|3	0|0	RUFY1|RUFY1	178919724|178919724	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	9.699000|9.699000	0.98703|0.98703	2.634000|2.634000	0.89283|0.89283	0.561000|0.561000	0.74099|0.74099	GGC|TGG	RUFY1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253505.2		+	ENST00000319449.4	Missense_Mutation	SNP	5 : 178987118 - 178987118 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	162	42
PCDH10	57575	broad.mit.edu	37	4	134073466	134073466	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134073466C>T	ENST00000264360.5	+	1	2997	c.2171C>T	c.(2170-2172)tCg>tTg	p.S724L		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	NA					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCGTTGGGCTCGGTGTCCTTC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	108	105			NA	NA	4		NA											NA				134073466		2203	4300	6503	SO:0001583	missense			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650	57575	57575		Cadherins / Protocadherins : Non-clustered	13404	protein-coding gene	gene with protein product		608286			NA	10835267	Standard	NM_032961	NM_020815	NA	Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2171C>T	4.37:g.134073466C>T	ENSP00000264360:p.Ser724Leu	NA	Q4W5F6	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606999	0.66558	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.53423	0.62	4.48	4.48	0.54585	.	0.000000	0.40728	N	0.001024	T	0.60090	0.2242	L	0.39326	1.205	0.80722	D	1	D;P	0.76494	0.999;0.876	D;B	0.72625	0.978;0.425	T	0.61637	-0.7022	10	0.49607	T	0.09	.	16.9557	0.86258	0.0:1.0:0.0:0.0	.	724;724	Q9P2E7;Q96SF0	PCD10_HUMAN;.	L	724	ENSP00000264360:S724L	ENSP00000264360:S724L	S	+	2	0	PCDH10	134292916	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	5.487000	0.66863	2.322000	0.78497	0.561000	0.74099	TCG	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364457.2		+	ENST00000264360.5	Missense_Mutation	SNP	4 : 134073466 - 134073466 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	525	113
LRSAM1	90678	broad.mit.edu	37	9	130251727	130251727	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130251727C>T	ENST00000323301.4	+	18	1956	c.1352C>T	c.(1351-1353)gCg>gTg	p.A451V	LRSAM1_ENST00000300417.6_Missense_Mutation_p.A451V|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_Missense_Mutation_p.A451V|LRSAM1_ENST00000373324.4_Missense_Mutation_p.A451V	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	451					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						TTGCAGAGCGCGATGCAGAAG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	44	47			NA	NA	9		NA											NA				130251727		2203	4299	6502	SO:0001583	missense			AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356	90678	90678		Sterile alpha motif (SAM) domain containing	25135	protein-coding gene	gene with protein product		610933			NA	12975309	Standard	NM_138361	NM_001005373	NA	Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.1352C>T	9.37:g.130251727C>T	ENSP00000322937:p.Ala451Val	NA	Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	37	CCDS6873.1	.	.	.	.	.	.	.	.	.	.	C	3.439	-0.114392	0.06881	.	.	ENSG00000148356	ENST00000300417;ENST00000373324;ENST00000323301;ENST00000373322	T;T;T;T	0.75704	1.46;-0.96;1.46;1.46	5.62	2.17	0.27698	.	0.420350	0.26761	N	0.022630	T	0.53690	0.1812	N	0.16478	0.41	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.38607	-0.9653	10	0.30854	T	0.27	-0.1491	7.8298	0.29336	0.3344:0.5757:0.0:0.0899	.	451;451	Q6UWE0-2;Q6UWE0	.;LRSM1_HUMAN	V	451	ENSP00000300417:A451V;ENSP00000362421:A451V;ENSP00000322937:A451V;ENSP00000362419:A451V	ENSP00000300417:A451V	A	+	2	0	LRSAM1	129291548	0.921000	0.31238	0.033000	0.17914	0.218000	0.24690	2.470000	0.45119	0.641000	0.30601	0.555000	0.69702	GCG	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054164.1		+	ENST00000323301.4	Missense_Mutation	SNP	9 : 130251727 - 130251727 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	72	11
ZNF829	374899	broad.mit.edu	37	19	37382434	37382434	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37382434C>T	ENST00000520965.1	-	6	1568	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H	ZNF345_ENST00000526123.1_Intron|ZNF829_ENST00000391711.3_Missense_Mutation_p.R420H|ZNF345_ENST00000432005.2_Intron	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGGTCAGAGCGACTACCAAA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	66	65			NA	NA	19		NA											NA				37382434		2190	4291	6481	SO:0001583	missense			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869	374899	374899		Zinc fingers, C2H2-type, -	34032	protein-coding gene	gene with protein product					NA		Standard	NM_001037232	NM_001037232	NA	Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000520965.1:c.1502G>A	19.37:g.37382434C>T	ENSP00000428679:p.Arg501His	NA	Q3KNS7|Q6ZNN0|Q7Z657	37	CCDS59380.1	.	.	.	.	.	.	.	.	.	.	C	9.539	1.112918	0.20795	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	T	0.36157	1.27	3.28	2.23	0.28157	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27832	0.0685	L	0.43646	1.37	0.24617	N	0.993694	B	0.15930	0.015	B	0.01281	0.0	T	0.19614	-1.0300	9	0.21014	T	0.42	.	9.3436	0.38096	0.0:0.8812:0.0:0.1188	.	420	Q3KNS6	ZN829_HUMAN	H	420	ENSP00000429266:R420H	ENSP00000429266:R420H	R	-	2	0	ZNF829	42074274	0.000000	0.05858	0.991000	0.47740	0.993000	0.82548	-1.426000	0.02443	0.912000	0.36772	0.557000	0.71058	CGC	ZNF829-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375749.2		-	ENST00000520965.1	Missense_Mutation	SNP	19 : 37382434 - 37382434 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	440	77
OR10R2	343406	broad.mit.edu	37	1	158450047	158450047	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158450047T>C	ENST00000368152.1	+	1	380	c.380T>C	c.(379-381)tTt>tCt	p.F127S	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TTCCTTGGTTTTGCCATTACC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													385	326	346			NA	NA	1		NA											NA				158450047		2203	4300	6503	SO:0001583	missense			AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965	343406	343406		GPCR / Class A : Olfactory receptors	14820	protein-coding gene	gene with protein product					NA		Standard	NM_001004472	NM_001004472	NA	Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.380T>C	1.37:g.158450047T>C	ENSP00000357134:p.Phe127Ser	NA	Q5VWM8|Q6IFS1|Q96R61	37	CCDS30898.1	.	.	.	.	.	.	.	.	.	.	t	16.88	3.243493	0.58995	.	.	ENSG00000198965	ENST00000368152	T	0.01287	5.05	4.48	4.48	0.54585	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.03136	0.0092	M	0.65677	2.01	0.24736	N	0.993066	D	0.76494	0.999	D	0.68943	0.961	T	0.27468	-1.0073	9	0.72032	D	0.01	.	12.8873	0.58051	0.0:0.0:0.0:1.0	.	127	Q8NGX6	O10R2_HUMAN	S	127	ENSP00000357134:F127S	ENSP00000357134:F127S	F	+	2	0	OR10R2	156716671	0.003000	0.15002	0.999000	0.59377	0.937000	0.57800	0.917000	0.28665	1.847000	0.53656	0.533000	0.62120	TTT	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051847.2		+	ENST00000368152.1	Missense_Mutation	SNP	1 : 158450047 - 158450047 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1769	446
MICAL3	57553	broad.mit.edu	37	22	18301163	18301163	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18301163G>T	ENST00000441493.2	-	26	4616	c.4264C>A	c.(4264-4266)Ctg>Atg	p.L1422M		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1422	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTGCTGGACAGCTCCCTGCGC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	35	33			NA	NA	22		NA											NA				18301163		2011	4164	6175	SO:0001583	missense			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156	57553	57553			24694	protein-coding gene	gene with protein product		608882			NA	12110185	Standard		NM_015241	NA	Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.4264C>A	22.37:g.18301163G>T	ENSP00000416015:p.Leu1422Met	NA	E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	37	CCDS46659.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.85|14.85	2.657804|2.657804	0.47467|0.47467	.|.	.|.	ENSG00000093100|ENSG00000093100	ENST00000441493|ENST00000252134	T|.	0.70282|.	-0.47|.	4.42|4.42	3.15|3.15	0.36227|0.36227	.|.	.|.	.|.	.|.	.|.	T|T	0.50735|0.50735	0.1633|0.1633	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	P|.	0.48911|.	0.917|.	P|.	0.46659|.	0.523|.	T|T	0.53265|0.53265	-0.8463|-0.8463	9|5	0.49607|.	T|.	0.09|.	.|.	2.3109|2.3109	0.04186|0.04186	0.1661:0.1829:0.4897:0.1613|0.1661:0.1829:0.4897:0.1613	.|.	1422|.	Q7RTP6|.	MICA3_HUMAN|.	M|R	1422|403	ENSP00000416015:L1422M|.	ENSP00000416015:L1422M|.	L|S	-|-	1|3	2|2	XXbac-B461K10.4|XXbac-B461K10.4	16681163|16681163	0.779000|0.779000	0.28652|0.28652	1.000000|1.000000	0.80357|0.80357	0.948000|0.948000	0.59901|0.59901	0.914000|0.914000	0.28624|0.28624	2.013000|2.013000	0.59113|0.59113	0.455000|0.455000	0.32223|0.32223	CTG|AGC	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447351.1		-	ENST00000441493.2	Missense_Mutation	SNP	22 : 18301163 - 18301163 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	452	109
FSIP2	401024	broad.mit.edu	37	2	186671080	186671080	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:186671080A>G	ENST00000424728.1	+	17	17047	c.17047A>G	c.(17047-17049)Aat>Gat	p.N5683D	FSIP2_ENST00000343098.5_Missense_Mutation_p.N5772D					fibrous sheath interacting protein 2	NA										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TGTCATTGAAAATATTTTTGA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	67	68			NA	NA	2		NA											NA				186671080		1839	4083	5922	SO:0001583	missense			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738	401024	401024			21675	protein-coding gene	gene with protein product		615796			NA	14702039	Standard	NM_173651	NM_173651	NA	Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.17047A>G	2.37:g.186671080A>G	ENSP00000401306:p.Asn5683Asp	NA		37		.	.	.	.	.	.	.	.	.	.	A	12.34	1.909852	0.33721	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.50548	0.74;0.74	5.21	5.21	0.72293	.	.	.	.	.	T	0.45418	0.1341	L	0.32530	0.975	0.29107	N	0.881129	.	.	.	.	.	.	T	0.47849	-0.9085	7	0.56958	D	0.05	.	11.3864	0.49787	1.0:0.0:0.0:0.0	.	.	.	.	D	5772;5683	ENSP00000344403:N5772D;ENSP00000401306:N5683D	ENSP00000344403:N5772D	N	+	1	0	FSIP2	186379325	1.000000	0.71417	1.000000	0.80357	0.121000	0.20230	4.007000	0.57093	2.175000	0.68902	0.482000	0.46254	AAT	FSIP2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000332778.3		+	ENST00000424728.1	Missense_Mutation	SNP	2 : 186671080 - 186671080 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	448	85
RFTN2	130132	broad.mit.edu	37	2	198511301	198511301	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198511301C>T	ENST00000295049.4	-	2	765	c.229G>A	c.(229-231)Ggg>Agg	p.G77R		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	NA						plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						TGAATAGCCCCGACAATATAT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	117	116			NA	NA	2		NA											NA				198511301		2203	4300	6503	SO:0001583	missense			AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944	130132	130132			26402	protein-coding gene	gene with protein product			chromosome 2 open reading frame 11	C2orf11	NA		Standard	NM_144629	NM_144629	NA	Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.229G>A	2.37:g.198511301C>T	ENSP00000295049:p.Gly77Arg	NA	Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	37	CCDS2323.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442193	0.83993	.	.	ENSG00000162944	ENST00000295049;ENST00000429081	T;T	0.32023	1.47;1.47	5.39	4.5	0.54988	.	0.474569	0.23536	N	0.047134	T	0.47358	0.1441	L	0.51422	1.61	0.39911	D	0.974022	D	0.89917	1.0	D	0.72338	0.977	T	0.47315	-0.9127	10	0.87932	D	0	-13.4825	12.182	0.54218	0.0:0.9205:0.0:0.0795	.	77	Q52LD8	RFTN2_HUMAN	R	77	ENSP00000295049:G77R;ENSP00000398128:G77R	ENSP00000295049:G77R	G	-	1	0	RFTN2	198219546	0.387000	0.25188	0.999000	0.59377	0.943000	0.58893	2.256000	0.43231	2.687000	0.91594	0.585000	0.79938	GGG	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256106.2		-	ENST00000295049.4	Missense_Mutation	SNP	2 : 198511301 - 198511301 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	427	14
TUBA3E	112714	broad.mit.edu	37	2	130949639	130949639	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130949639C>T	ENST00000312988.7	-	5	1218	c.1118G>A	c.(1117-1119)cGg>cAg	p.R373Q		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	373					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					GCACACGGCCCGCTGCACCTT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	40	39			NA	NA	2		NA											NA				130949639		2202	4290	6492	SO:0001583	missense			BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086	112714	112714		Tubulins	20765	protein-coding gene	gene with protein product					NA		Standard	NM_207312	NM_207312	NA	Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.1118G>A	2.37:g.130949639C>T	ENSP00000318197:p.Arg373Gln	NA		37	CCDS2158.1	.	.	.	.	.	.	.	.	.	.	c	14.53	2.562135	0.45590	.	.	ENSG00000152086	ENST00000312988	D	0.84660	-1.88	2.96	2.96	0.34315	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.118605	0.29838	U	0.011066	D	0.86012	0.5831	M	0.85299	2.745	0.45015	D	0.998032	B	0.20550	0.046	B	0.26310	0.068	D	0.86632	0.1886	10	0.87932	D	0	.	11.6912	0.51516	0.0:1.0:0.0:0.0	.	373	Q6PEY2	TBA3E_HUMAN	Q	373	ENSP00000318197:R373Q	ENSP00000318197:R373Q	R	-	2	0	TUBA3E	130666109	0.956000	0.32656	1.000000	0.80357	0.910000	0.53928	2.209000	0.42806	1.668000	0.50843	0.455000	0.32223	CGG	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254519.1		-	ENST00000312988.7	Missense_Mutation	SNP	2 : 130949639 - 130949639 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	699	78
SEMA5A	9037	broad.mit.edu	37	5	9154803	9154803	+	Silent	SNP	G	G	A	rs1806150	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:9154803G>A	ENST00000382496.5	-	12	1943	c.1278C>T	c.(1276-1278)taC>taT	p.Y426Y		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	426	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TAATGGTTCCGTAATCTATGA	0.498		NA											G	8	0.0037	NA	NA	2184	0.01	1	,	,	NA	3e-04	NA	NA	NA	0.0037	1	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0								G		0,4406		0,0,2203	69	67	68		1278	-11.4	0.2	5	dbSNP_92	68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SEMA5A	NM_003966.2		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		426/1075	9154803	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902	9037	9037		Semaphorins	10736	protein-coding gene	gene with protein product		609297		SEMAF	NA	8817451, 9464278	Standard		NM_003966	NA	Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1278C>T	5.37:g.9154803G>A		NA	D3DTC6|O60408|Q1RLL9	37	CCDS3875.1																																																																																			SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206989.2		-	ENST00000382496.5	Silent	SNP	5 : 9154803 - 9154803 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	417	74
C10orf12	26148	broad.mit.edu	37	10	98741860	98741860	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98741860T>G	ENST00000286067.2	+	1	820	c.713T>G	c.(712-714)aTt>aGt	p.I238S		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	238										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		ACCCTTACAATTCCAGCCCCT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	96	96			NA	NA	10		NA											NA				98741860		2203	4300	6503	SO:0001583	missense			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640	26148	26148			23420	protein-coding gene	gene with protein product					NA	24550272	Standard	NM_015652	NM_015652	NA	Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.713T>G	10.37:g.98741860T>G	ENSP00000286067:p.Ile238Ser	NA	Q9H945|Q9Y457	37	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	T	1.659	-0.512042	0.04200	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.09445	2.98	6.05	1.03	0.20045	.	1.722310	0.03331	N	0.193415	T	0.08626	0.0214	N	0.19112	0.55	0.09310	N	1	B;B	0.22983	0.078;0.078	B;B	0.21708	0.022;0.036	T	0.36648	-0.9739	10	0.62326	D	0.03	0.665	5.4761	0.16695	0.0:0.2189:0.1337:0.6474	.	72;238	A0PJI9;Q8N655	.;CJ012_HUMAN	S	238;72	ENSP00000286067:I238S	ENSP00000286067:I238S	I	+	2	0	C10orf12	98731850	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-0.066000	0.12998	-0.274000	0.10170	ATT	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049627.1		+	ENST00000286067.2	Missense_Mutation	SNP	10 : 98741860 - 98741860 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	547	105
GAN	8139	broad.mit.edu	37	16	81385228	81385228	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81385228A>G	ENST00000568107.2	+	2	370	c.208A>G	c.(208-210)Act>Gct	p.T70A		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	NA	BTB.				cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				TGATGGATCAACTTATAAGAT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(106;1239 1507 7582 9741 33976)							NA				0													118	110	113			NA	NA	16		NA											NA				81385228		2202	4300	6502	SO:0001583	missense			AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609	8139	8139		Kelch-like, BTB/POZ domain containing	4137	protein-coding gene	gene with protein product	kelch-like family member 16	605379	giant axonal neuropathy (gigaxonin)		NA	9450783, 11062483	Standard		NM_022041	NA	Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.208A>G	16.37:g.81385228A>G	ENSP00000476795:p.Thr70Ala	NA		37	CCDS10935.1	.	.	.	.	.	.	.	.	.	.	A	5.295	0.239798	0.10023	.	.	ENSG00000127688	ENST00000248272	T	0.67171	-0.25	5.88	5.88	0.94601	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.197356	0.53938	D	0.000046	T	0.46347	0.1388	N	0.04297	-0.235	0.37084	D	0.899104	B	0.02656	0.0	B	0.01281	0.0	T	0.47971	-0.9075	10	0.29301	T	0.29	.	16.3009	0.82811	1.0:0.0:0.0:0.0	.	70	Q9H2C0	GAN_HUMAN	A	70	ENSP00000248272:T70A	ENSP00000248272:T70A	T	+	1	0	GAN	79942729	0.960000	0.32886	1.000000	0.80357	0.995000	0.86356	3.500000	0.53318	2.246000	0.74042	0.533000	0.62120	ACT	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269050.3		+	ENST00000568107.2	Missense_Mutation	SNP	16 : 81385228 - 81385228 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	448	118
ARHGAP31	57514	broad.mit.edu	37	3	119133927	119133927	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119133927G>T	ENST00000264245.4	+	12	3683	c.3151G>T	c.(3151-3153)Ggg>Tgg	p.G1051W		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1051					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GACACACCTGGGGCACAGCAG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(7;176 297 5394 51128 51241)							NA				0													117	132	127			NA	NA	3		NA											NA				119133927		2128	4238	6366	SO:0001583	missense				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081	57514	57514		Rho GTPase activating proteins	29216	protein-coding gene	gene with protein product		610911			NA	9786927, 12819203, 16519628	Standard		NM_020754	NA	Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3151G>T	3.37:g.119133927G>T	ENSP00000264245:p.Gly1051Trp	NA	Q9ULL6	37	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.709532	0.30322	.	.	ENSG00000031081	ENST00000264245	T	0.06608	3.28	5.39	1.34	0.21922	.	0.947823	0.08777	N	0.895302	T	0.04363	0.0120	N	0.24115	0.695	0.09310	N	1	P	0.52463	0.953	B	0.39971	0.315	T	0.39035	-0.9633	10	0.66056	D	0.02	.	3.8652	0.09013	0.1481:0.2452:0.4921:0.1147	.	1051	Q2M1Z3	RHG31_HUMAN	W	1051	ENSP00000264245:G1051W	ENSP00000264245:G1051W	G	+	1	0	ARHGAP31	120616617	0.001000	0.12720	0.000000	0.03702	0.842000	0.47809	0.926000	0.28804	0.376000	0.24707	0.655000	0.94253	GGG	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354942.2		+	ENST00000264245.4	Missense_Mutation	SNP	3 : 119133927 - 119133927 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	964	96
SLC25A39	51629	broad.mit.edu	37	17	42398537	42398537	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42398537C>T	ENST00000225308.8	-	8	730	c.556G>A	c.(556-558)Gtg>Atg	p.V186M	SLC25A39_ENST00000590194.1_Missense_Mutation_p.V186M|SLC25A39_ENST00000537904.2_Missense_Mutation_p.V171M|SLC25A39_ENST00000377095.5_Missense_Mutation_p.V194M|SLC25A39_ENST00000586016.1_Missense_Mutation_p.V62M	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	194					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CGGTACGACACATGCTGAGCC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	40	41			NA	NA	17		NA											NA				42398537		2202	4300	6502	SO:0001583	missense			BC096819	CCDS11482.1, CCDS45700.1	17q12	2013-05-22			ENSG00000013306	ENSG00000013306	51629	51629		Solute carriers	24279	protein-coding gene	gene with protein product		610820			NA	16949250	Standard	NM_016016	NM_001143780	NA	Approved	FLJ22407, CGI-69	uc002ign.2	Q9BZJ4	OTTHUMG00000132628	ENST00000225308.8:c.556G>A	17.37:g.42398537C>T	ENSP00000225308:p.Val186Met	NA	A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379	37	CCDS11482.1	.	.	.	.	.	.	.	.	.	.	C	7.056	0.565521	0.13560	.	.	ENSG00000013306	ENST00000225308;ENST00000377095;ENST00000537904	T;T;T	0.79033	-1.23;-1.23;-1.23	5.31	2.02	0.26589	Mitochondrial carrier domain (2);	0.241487	0.33980	N	0.004373	T	0.69637	0.3133	L	0.41632	1.29	0.40027	D	0.975488	B;B;B	0.15473	0.001;0.013;0.001	B;B;B	0.16722	0.016;0.01;0.009	T	0.65413	-0.6174	10	0.31617	T	0.26	-16.7721	16.3624	0.83273	0.0:0.3223:0.6777:0.0	.	171;194;186	B4DFG5;Q9BZJ4;Q9BZJ4-2	.;S2539_HUMAN;.	M	186;194;171	ENSP00000225308:V186M;ENSP00000366299:V194M;ENSP00000444540:V171M	ENSP00000225308:V186M	V	-	1	0	SLC25A39	39754063	0.998000	0.40836	0.015000	0.15790	0.020000	0.10135	2.820000	0.48057	0.777000	0.33496	0.655000	0.94253	GTG	SLC25A39-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255875.1		-	ENST00000225308.8	Missense_Mutation	SNP	17 : 42398537 - 42398537 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	240	20
NRD1	4898	broad.mit.edu	37	1	52289401	52289401	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52289401C>A	ENST00000354831.7	-	9	1487	c.1298G>T	c.(1297-1299)aGa>aTa	p.R433I	NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Missense_Mutation_p.R233I|NRD1_ENST00000352171.7_Missense_Mutation_p.R365I|NRD1_ENST00000539524.1_Missense_Mutation_p.R301I	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	364					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TTCTCTCAATCTAGCATGTGT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	98	99			NA	NA	1		NA											NA				52289401		2203	4300	6503	SO:0001583	missense			X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618	4898	4898			7995	protein-coding gene	gene with protein product		602651			NA	9581555, 9479496	Standard	NM_002525	NM_002525	NA	Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.1298G>T	1.37:g.52289401C>A	ENSP00000346890:p.Arg433Ile	NA	A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	37	CCDS559.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891953	0.72524	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.38	5.38	0.77491	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.51244	0.1663	L	0.48986	1.54	0.80722	D	1	D;D;D	0.76494	0.997;0.998;0.999	D;D;D	0.71184	0.933;0.96;0.972	T	0.45338	-0.9268	10	0.48119	T	0.1	-10.9322	19.1375	0.93433	0.0:1.0:0.0:0.0	.	365;364;433	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	I	365;433;301;365;233	ENSP00000262679:R365I;ENSP00000346890:R433I;ENSP00000444416:R301I;ENSP00000442262:R233I	ENSP00000262679:R365I	R	-	2	0	NRD1	52061989	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.671000	0.68095	2.532000	0.85374	0.655000	0.94253	AGA	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000023045.1		-	ENST00000354831.7	Missense_Mutation	SNP	1 : 52289401 - 52289401 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	309	25
NDUFB8	4714	broad.mit.edu	37	10	102286192	102286192	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102286192G>T	ENST00000557395.1	-	4	461	c.432C>A	c.(430-432)tgC>tgA	p.C144*	NDUFB8_ENST00000370322.1_Nonsense_Mutation_p.C113*|NDUFB8_ENST00000531258.1_Nonsense_Mutation_p.C144*|SEC31B_ENST00000535773.1_Intron|NDUFB8_ENST00000299166.4_Nonsense_Mutation_p.C144*|NDUFB8_ENST00000370320.4_Nonsense_Mutation_p.C144*			O95169	NDUB8_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa	144					mitochondrial electron transport, NADH to ubiquinone|transport	endoplasmic reticulum|integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(2)|lung(2)	4		Colorectal(252;0.234)		Epithelial(162;5.68e-10)|all cancers(201;4.05e-08)	NADH(DB00157)	CCCCCACCCAGCACATGAATA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	91	98			NA	NA	10		NA											NA				102286192		2203	4300	6503	SO:0001587	stop_gained			AF044958	CCDS7497.1, CCDS65916.1, CCDS65917.1	10q24.31	2011-07-04	2002-08-29		ENSG00000166136	ENSG00000166136	4714	4714		Mitochondrial respiratory chain complex / Complex I	7703	protein-coding gene	gene with protein product	complex I ASHI subunit	602140	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8 (19kD, ASHI)		NA	9763676	Standard	NM_005004	NM_001284368	NA	Approved	ASHI, CI-ASHI	uc001kri.1	O95169	OTTHUMG00000019346	ENST00000557395.1:c.432C>A	10.37:g.102286192G>T	ENSP00000456832:p.Cys144*	NA	A8K0L4|Q5W144|Q9UG53|Q9UJR4|Q9UQF3	37		.	.	.	.	.	.	.	.	.	.	G	14.61	2.587017	0.46110	.	.	ENSG00000166136	ENST00000531258;ENST00000299166;ENST00000370322;ENST00000370320	.	.	.	5.69	3.76	0.43208	.	0.048843	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-9.9895	7.8746	0.29586	0.3275:0.0:0.6725:0.0	.	.	.	.	X	144;144;113;144	.	ENSP00000299166:C144X	C	-	3	2	NDUFB8	102276182	1.000000	0.71417	1.000000	0.80357	0.107000	0.19398	2.419000	0.44671	0.674000	0.31244	0.555000	0.69702	TGC	NDUFB8-001	KNOWN	basic|appris_candidate_longest|readthrough_transcript	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000390725.1		-	ENST00000557395.1	Nonsense_Mutation	SNP	10 : 102286192 - 102286192 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	243	48
OR51M1	390059	broad.mit.edu	37	11	5411272	5411272	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5411272T>C	ENST00000328611.3	+	1	666	c.644T>C	c.(643-645)gTa>gCa	p.V215A	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	215						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGATGGTGGTAGTTTTCACT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	138	140			NA	NA	11		NA											NA				5411272		2046	4197	6243	SO:0001583	missense			BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698	390059	390059		GPCR / Class A : Olfactory receptors	14847	protein-coding gene	gene with protein product					NA		Standard	NM_001004756	NM_001004756	NA	Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.644T>C	11.37:g.5411272T>C	ENSP00000333196:p.Val215Ala	NA		37	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	T	13.04	2.116938	0.37339	.	.	ENSG00000184698	ENST00000328611	T	0.35973	1.28	5.03	5.03	0.67393	GPCR, rhodopsin-like superfamily (1);	0.756085	0.10422	U	0.676577	T	0.42585	0.1209	N	0.13327	0.33	0.27101	N	0.962615	P	0.51653	0.947	P	0.62885	0.908	T	0.41378	-0.9512	10	0.45353	T	0.12	.	13.7333	0.62802	0.0:0.0:0.0:1.0	.	204	Q9H341	O51M1_HUMAN	A	215	ENSP00000333196:V215A	ENSP00000333196:V215A	V	+	2	0	OR51M1	5367848	0.000000	0.05858	0.414000	0.26521	0.007000	0.05969	-0.009000	0.12765	2.116000	0.64780	0.533000	0.62120	GTA	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000142981.1		+	ENST00000328611.3	Missense_Mutation	SNP	11 : 5411272 - 5411272 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	417	82
OR4X2	119764	broad.mit.edu	37	11	48266694	48266694	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48266694G>T	ENST00000302329.3	+	1	87	c.39G>T	c.(37-39)caG>caT	p.Q13H		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CTCCCAACCAGGAGGTGCAGA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	148	159			NA	NA	11		NA											NA				48266694		2201	4298	6499	SO:0001583	missense			AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208	119764	119764		GPCR / Class A : Olfactory receptors	15184	protein-coding gene	gene with protein product					NA		Standard	NM_001004727	NM_001004727	NA	Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.39G>T	11.37:g.48266694G>T	ENSP00000307751:p.Gln13His	NA	B2RNK3|Q6IF73|Q96R63	37	CCDS31486.1	.	.	.	.	.	.	.	.	.	.	G	5.573	0.290542	0.10567	.	.	ENSG00000172208	ENST00000302329	T	0.02974	4.09	5.37	-0.423	0.12325	.	1.300900	0.05306	N	0.523901	T	0.03053	0.0090	N	0.16602	0.42	0.09310	N	1	P	0.38148	0.62	B	0.40659	0.336	T	0.49476	-0.8936	10	0.87932	D	0	.	8.6846	0.34229	0.4934:0.0:0.5066:0.0	.	13	Q8NGF9	OR4X2_HUMAN	H	13	ENSP00000307751:Q13H	ENSP00000307751:Q13H	Q	+	3	2	OR4X2	48223270	0.000000	0.05858	0.001000	0.08648	0.029000	0.11900	-2.585000	0.00903	0.000000	0.14550	-0.143000	0.13931	CAG	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383376.2		+	ENST00000302329.3	Missense_Mutation	SNP	11 : 48266694 - 48266694 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	762	149
PNPLA8	50640	broad.mit.edu	37	7	108128376	108128376	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:108128376C>A	ENST00000453144.1	-	8	1947	c.1405G>T	c.(1405-1407)Gta>Tta	p.V469L	PNPLA8_ENST00000436062.1_Missense_Mutation_p.V569L|PNPLA8_ENST00000388728.5_Intron|PNPLA8_ENST00000257694.8_Missense_Mutation_p.V569L|PNPLA8_ENST00000426128.2_Intron|PNPLA8_ENST00000422087.1_Missense_Mutation_p.V569L	NM_001256010.1	NP_001242939.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	569	Patatin.				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						CCTCTATTTACTATGGTACTT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	68	68			NA	NA	7		NA											NA				108128376		2203	4300	6503	SO:0001583	missense			AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241	50640	50640		Patatin-like phospholipase domain containing	28900	protein-coding gene	gene with protein product		612123			NA	10744668, 10833412, 16799181, 19029121	Standard	NM_015723	NM_015723	NA	Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000453144.1:c.1405G>T	7.37:g.108128376C>A	ENSP00000387789:p.Val469Leu	NA	A4D0S1|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	37	CCDS59075.1	.	.	.	.	.	.	.	.	.	.	C	34	5.373240	0.95923	.	.	ENSG00000135241	ENST00000257694;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96	5.6	5.6	0.85130	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.000000	0.85682	D	0.000000	T	0.80839	0.4700	L	0.56280	1.765	0.80722	D	1	P	0.52692	0.955	P	0.54060	0.741	T	0.80926	-0.1164	10	0.52906	T	0.07	.	19.6126	0.95616	0.0:1.0:0.0:0.0	.	569	Q9NP80	PLPL8_HUMAN	L	569;569;469;569;469	ENSP00000257694:V569L;ENSP00000410804:V569L;ENSP00000387789:V469L;ENSP00000406779:V569L;ENSP00000402274:V469L	ENSP00000257694:V569L	V	-	1	0	PNPLA8	107915612	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.440000	0.80464	2.630000	0.89119	0.591000	0.81541	GTA	PNPLA8-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337477.2		-	ENST00000453144.1	Missense_Mutation	SNP	7 : 108128376 - 108128376 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	370	73
DNAH10	196385	broad.mit.edu	37	12	124320029	124320029	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124320029C>T	ENST00000409039.3	+	27	4527	c.4502C>T	c.(4501-4503)cCg>cTg	p.P1501L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1501	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCACAACTTCCGGAAGAGGCA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	LEU/PRO	1,3689		0,1,1844	92	84	86		4502	6	0.7	12		86	1,8179		0,1,4089	no	missense	DNAH10	NM_207437.3	98	0,2,5933	TT,TC,CC	NA	0.0122,0.0271,0.0168	probably-damaging	1501/4472	124320029	2,11868	1845	4090	5935	SO:0001583	missense			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653	196385	196385		Axonemal dyneins	2941	protein-coding gene	gene with protein product		605884	dynein, axonemal, heavy polypeptide 10		NA		Standard		NM_207437	NA	Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4502C>T	12.37:g.124320029C>T	ENSP00000386770:p.Pro1501Leu	NA	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914796	0.72983	2.71E-4	1.22E-4	ENSG00000197653	ENST00000409039	T	0.66280	-0.2	6.02	6.02	0.97574	Dynein heavy chain, domain-2 (1);	0.077772	0.52532	U	0.000069	D	0.89223	0.6654	H	0.99104	4.43	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92902	0.6340	10	0.87932	D	0	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	1501	Q8IVF4	DYH10_HUMAN	L	1501	ENSP00000386770:P1501L	ENSP00000386770:P1501L	P	+	2	0	DNAH10	122885982	1.000000	0.71417	0.745000	0.31077	0.114000	0.19823	5.784000	0.68990	2.857000	0.98124	0.650000	0.86243	CCG	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335420.3		+	ENST00000409039.3	Missense_Mutation	SNP	12 : 124320029 - 124320029 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	109	20
AKNAD1	254268	broad.mit.edu	37	1	109394773	109394773	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109394773G>A	ENST00000370001.3	-	2	782	c.514C>T	c.(514-516)Ctc>Ttc	p.L172F	AKNAD1_ENST00000369995.3_Missense_Mutation_p.L172F|AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369994.1_Missense_Mutation_p.L172F	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	172										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTCGGGTTGAGTTGGTCAGTG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	64	63			NA	NA	1		NA											NA				109394773		2202	4295	6497	SO:0001583	missense			AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641	254268	254268			28398	protein-coding gene	gene with protein product			chromosome 1 open reading frame 62	C1orf62	NA		Standard	NM_152763	NM_152763	NA	Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.514C>T	1.37:g.109394773G>A	ENSP00000359018:p.Leu172Phe	NA	B9EK62|Q5T1N0|Q8N990|Q8NCN9	37	CCDS791.2	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511189	0.44660	.	.	ENSG00000162641	ENST00000370001;ENST00000369994;ENST00000369995	T;T;T	0.09817	2.96;2.99;2.94	5.77	0.065	0.14355	.	0.955217	0.08711	N	0.904928	T	0.03348	0.0097	M	0.63428	1.95	0.09310	N	1	B	0.30326	0.276	B	0.30572	0.117	T	0.44205	-0.9343	10	0.31617	T	0.26	-0.2122	2.1848	0.03883	0.1509:0.3045:0.3494:0.1952	.	172	Q5T1N1	AKND1_HUMAN	F	172	ENSP00000359018:L172F;ENSP00000359011:L172F;ENSP00000359012:L172F	ENSP00000359011:L172F	L	-	1	0	AKNAD1	109196296	0.000000	0.05858	0.041000	0.18516	0.051000	0.14879	-0.152000	0.10159	0.362000	0.24319	-0.878000	0.02970	CTC	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000030923.2		-	ENST00000370001.3	Missense_Mutation	SNP	1 : 109394773 - 109394773 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	625	142
ZNF318	24149	broad.mit.edu	37	6	43305331	43305331	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43305331C>T	ENST00000361428.2	-	10	6482	c.6405G>A	c.(6403-6405)atG>atA	p.M2135I	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2135					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTTCCTCAGGCATCATTCCTC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	57	58			NA	NA	6		NA											NA				43305331		2203	4300	6503	SO:0001583	missense			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467	24149	24149		Zinc fingers, C2H2-type	13578	protein-coding gene	gene with protein product					NA	10873617	Standard	NM_014345	NM_014345	NA	Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.6405G>A	6.37:g.43305331C>T	ENSP00000354964:p.Met2135Ile	NA	O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	37	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	13.92	2.379689	0.42207	.	.	ENSG00000171467	ENST00000361428	T	0.11063	2.81	6.08	5.2	0.72013	.	0.178249	0.40385	N	0.001120	T	0.03220	0.0094	L	0.27053	0.805	0.80722	D	1	B	0.24920	0.114	B	0.21708	0.036	T	0.27971	-1.0058	10	0.48119	T	0.1	-7.5726	6.961	0.24597	0.0:0.826:0.0:0.174	.	2135	Q5VUA4	ZN318_HUMAN	I	2135	ENSP00000354964:M2135I	ENSP00000354964:M2135I	M	-	3	0	ZNF318	43413309	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.650000	0.24858	2.894000	0.99253	0.655000	0.94253	ATG	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040601.2		-	ENST00000361428.2	Missense_Mutation	SNP	6 : 43305331 - 43305331 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	242	36
ELOVL7	79993	broad.mit.edu	37	5	60053435	60053435	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:60053435A>G	ENST00000505959.1	-	10	1024	c.498T>C	c.(496-498)gcT>gcC	p.A166A	ELOVL7_ENST00000438340.1_Silent_p.A179A|ELOVL7_ENST00000425382.1_Silent_p.A179A|ELOVL7_ENST00000508821.1_Silent_p.A179A			A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	179					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				CTACATGTACAGCTGTATTTA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	79	79			NA	NA	5		NA											NA				60053435		2203	4300	6503	SO:0001819	synonymous_variant			AK027216	CCDS34164.1	5q12	2011-05-25	2011-05-25			ENSG00000164181	79993	79993			26292	protein-coding gene	gene with protein product		614451	ELOVL family member 7, elongation of long chain fatty acids (yeast)		NA	19826053	Standard		NM_024930	NA	Approved	FLJ23563	uc010iwk.3	A1L3X0		ENST00000505959.1:c.498T>C	5.37:g.60053435A>G		NA	Q589T3|Q9H5D0|Q9NT66	37																																																																																				ELOVL7-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000368196.1		-	ENST00000505959.1	Silent	SNP	5 : 60053435 - 60053435 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	330	64
IQGAP3	128239	broad.mit.edu	37	1	156518421	156518421	+	Missense_Mutation	SNP	C	C	T	rs77834544	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156518421C>T	ENST00000361170.2	-	17	1955	c.1945G>A	c.(1945-1947)Ggc>Agc	p.G649S		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	649					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CGCTGGTAGCCGTTGGCACAG	0.617		NA											C	14	0.01	0.03	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0064	0.9966	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0								C	SER/GLY	92,4314	76.2+/-114.5	1,90,2112	119	91	101		1945	-2.1	0	1	dbSNP_131	101	0,8600		0,0,4300	yes	missense	IQGAP3	NM_178229.4	56	1,90,6412	TT,TC,CC	NA	0.0,2.0881,0.7074	benign	649/1632	156518421	92,12914	2203	4300	6503	SO:0001583	missense			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856	128239	128239			20669	protein-coding gene	gene with protein product					NA		Standard	NM_178229	NM_178229	NA	Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.1945G>A	1.37:g.156518421C>T	ENSP00000354451:p.Gly649Ser	NA	Q5T3H8	37	CCDS1144.1	14	0.00641025641025641	14	0.028455284552845527	0	0.0	0	0.0	0	0.0	C	0.034	-1.315087	0.01331	0.020881	0.0	ENSG00000183856	ENST00000361170	T	0.05786	3.39	4.7	-2.13	0.07144	.	0.503962	0.21193	N	0.078609	T	0.00608	0.0020	N	0.03177	-0.4	0.09310	N	0.999997	B	0.11235	0.004	B	0.08055	0.003	T	0.35176	-0.9799	10	0.08179	T	0.78	-4.4028	9.4457	0.38695	0.0:0.4748:0.0:0.5252	.	649	Q86VI3	IQGA3_HUMAN	S	649	ENSP00000354451:G649S	ENSP00000354451:G649S	G	-	1	0	IQGAP3	154785045	0.000000	0.05858	0.006000	0.13384	0.118000	0.20060	-0.258000	0.08733	-0.889000	0.03950	-0.258000	0.10820	GGC	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080657.1		-	ENST00000361170.2	Missense_Mutation	SNP	1 : 156518421 - 156518421 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	564	131
TCF25	22980	broad.mit.edu	37	16	89977554	89977554	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89977554C>A	ENST00000263346.8	+	18	1995	c.1939C>A	c.(1939-1941)Ctg>Atg	p.L647M	RP11-566K11.7_ENST00000570217.1_RNA|TCF25_ENST00000263347.7_Missense_Mutation_p.A451D	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	647					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		CAGGCTGATGCTGGCTGTGCG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	52	53			NA	NA	16		NA											NA				89977554		2195	4297	6492	SO:0001583	missense			AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002	22980	22980			29181	protein-coding gene	gene with protein product		612326			NA	12107429, 16574069	Standard	NM_014972	NM_014972	NA	Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.1939C>A	16.37:g.89977554C>A	ENSP00000263346:p.Leu647Met	NA	Q2MK75|Q9UPV3	37	CCDS10987.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.3|23.3	4.401336|4.401336	0.83120|0.83120	.|.	.|.	ENSG00000141002|ENSG00000141002	ENST00000263347|ENST00000263346	.|.	.|.	.|.	5.21|5.21	0.701|0.701	0.18104|0.18104	.|.	.|0.472377	.|0.22676	.|N	.|0.057014	T|T	0.14442|0.14442	0.0349|0.0349	N|N	0.08118|0.08118	0|0	0.25369|0.25369	N|N	0.988718|0.988718	B|B	0.09022|0.24675	0.002|0.109	B|B	0.10450|0.15484	0.005|0.013	T|T	0.11155|0.11155	-1.0599|-1.0599	8|9	0.87932|0.48119	D|T	0|0.1	.|.	3.7855|3.7855	0.08698|0.08698	0.1298:0.3136:0.4523:0.1044|0.1298:0.3136:0.4523:0.1044	.|.	451|647	Q9H384|Q9BQ70	.|TCF25_HUMAN	D|M	451|647	.|.	ENSP00000263347:A451D|ENSP00000263346:L647M	A|L	+|+	2|1	0|2	TCF25|TCF25	88505055|88505055	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	2.958000|2.958000	0.49145|0.49145	0.184000|0.184000	0.20083|0.20083	0.561000|0.561000	0.74099|0.74099	GCT|CTG	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000272875.2		+	ENST00000263346.8	Missense_Mutation	SNP	16 : 89977554 - 89977554 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	446	138
SEPT4	5414	broad.mit.edu	37	17	56599357	56599357	+	Silent	SNP	G	G	A	rs144640338		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56599357G>A	ENST00000426861.1	-	6	797	c.711C>T	c.(709-711)tgC>tgT	p.C237C	SEPT4_ENST00000317268.3_Silent_p.C256C|SEPT4_ENST00000412945.3_Silent_p.C248C|SEPT4_ENST00000457347.2_Silent_p.C271C|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000583114.1_Silent_p.C109C|SEPT4_ENST00000580844.1_Silent_p.C157C|SEPT4_ENST00000579371.1_Silent_p.C157C|SEPT4_ENST00000393086.1_Silent_p.C237C|SEPT4_ENST00000317256.6_Silent_p.C237C|SEPT4_ENST00000580809.1_Silent_p.C138C	NM_080415.2	NP_536340.1	O43236	SEPT4_HUMAN	septin 4	256					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGAAGTACAGGCAGCAGTGCA	0.562		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	175	145	155		744,768,711,711	4.9	1	17	dbSNP_134	155	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEPT4	NM_001198713.1,NM_004574.3,NM_080415.2,NM_080416.2	,,,	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	,,,	248/471,256/479,237/275,237/460	56599357	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387	5414	5414		Septins	9165	protein-coding gene	gene with protein product	bradeoin, septin-M	603696	peanut-like 2 (Drosophila)	PNUTL2	NA	9889007	Standard	NM_080417	NM_001198713	NA	Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000426861.1:c.711C>T	17.37:g.56599357G>A		NA	B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	37	CCDS45743.1																																																																																			SEPT4-004	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445415.1		-	ENST00000426861.1	Silent	SNP	17 : 56599357 - 56599357 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	434	77
RPGRIP1L	23322	broad.mit.edu	37	16	53686654	53686654	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53686654G>A	ENST00000262135.4	-	15	2038	c.1945C>T	c.(1945-1947)Cga>Tga	p.R649*	RPGRIP1L_ENST00000379925.3_Nonsense_Mutation_p.R649*|RPGRIP1L_ENST00000564374.1_Nonsense_Mutation_p.R649*|RPGRIP1L_ENST00000563746.1_Nonsense_Mutation_p.R649*	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	649	C2 1.				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	p.R649*(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TGAAGGCCTCGCACTACGGGA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Nonsense(1)	endometrium(1)											107	107	107			NA	NA	16		NA											NA				53686654		2198	4300	6498	SO:0001587	stop_gained				CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494	23322	23322			29168	protein-coding gene	gene with protein product	fantom homolog, Meckel syndrome, type 5, protein phosphatase 1, regulatory subunit 134	610937			NA	10231032	Standard	NM_015272	NM_015272	NA	Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000262135.4:c.1945C>T	16.37:g.53686654G>A	ENSP00000262135:p.Arg649*	NA	A0PJ88|Q9Y2K8	37	CCDS45486.1	.	.	.	.	.	.	.	.	.	.	G	36	5.623483	0.96660	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	.	.	.	5.45	3.08	0.35506	.	1.118250	0.06586	N	0.751119	.	.	.	.	.	.	0.34598	D	0.716193	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9957	10.9132	0.47120	0.0793:0.0:0.7882:0.1325	.	.	.	.	X	649	.	ENSP00000262135:R649X	R	-	1	2	RPGRIP1L	52244155	0.017000	0.18338	0.838000	0.33150	0.818000	0.46254	1.447000	0.35101	1.244000	0.43870	0.563000	0.77884	CGA	RPGRIP1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000422186.1		-	ENST00000262135.4	Nonsense_Mutation	SNP	16 : 53686654 - 53686654 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	398	82
MFF	56947	broad.mit.edu	37	2	228197205	228197205	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228197205C>T	ENST00000353339.3	+	5	771	c.330C>T	c.(328-330)ccC>ccT	p.P110P	MFF_ENST00000304593.9_Silent_p.P84P|MFF_ENST00000337110.7_Silent_p.P84P|MFF_ENST00000392059.1_Silent_p.P110P|MFF_ENST00000354503.6_Silent_p.P84P|MFF_ENST00000349901.7_Silent_p.P84P|MFF_ENST00000524634.1_5'UTR|MFF_ENST00000409565.1_Silent_p.P84P|MFF_ENST00000409616.1_Silent_p.P84P|MFF_ENST00000476924.1_3'UTR	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	110						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						CCTTTAAACCCCTGGCACTGA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													232	226	228			NA	NA	2		NA											NA				228197205		2203	4300	6503	SO:0001819	synonymous_variant			AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958	56947	56947			24858	protein-coding gene	gene with protein product		614785	chromosome 2 open reading frame 33	C2orf33	NA	18353969	Standard	NM_020194	NM_001277061	NA	Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.330C>T	2.37:g.228197205C>T		NA	Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	37	CCDS2465.1																																																																																			MFF-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256887.2		+	ENST00000353339.3	Silent	SNP	2 : 228197205 - 228197205 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1844	444
GPR116	221395	broad.mit.edu	37	6	46834846	46834846	+	Silent	SNP	C	C	T	rs147958492	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46834846C>T	ENST00000283296.7	-	13	1938	c.1650G>A	c.(1648-1650)aaG>aaA	p.K550K	GPR116_ENST00000362015.4_Silent_p.K550K|GPR116_ENST00000265417.7_Silent_p.K550K|GPR116_ENST00000456426.2_Silent_p.K408K|GPR116_ENST00000545669.1_5'UTR	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	550	Ig-like 3.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TGTATGAATTCTTATATCTAA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(59;410 1274 8751 36715 50546)							NA				0													119	117	117			NA	NA	6		NA											NA				46834846		2203	4300	6503	SO:0001819	synonymous_variant			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122	221395	221395		-, GPCR / Class B : Orphans, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	19030	protein-coding gene	gene with protein product					NA	12435584	Standard	NM_015234	NM_001098518	NA	Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.1650G>A	6.37:g.46834846C>T		NA	O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	37	CCDS4919.1																																																																																			GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040806.2		-	ENST00000283296.7	Silent	SNP	6 : 46834846 - 46834846 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	454	71
POC1A	25886	broad.mit.edu	37	3	52156463	52156463	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52156463C>T	ENST00000394970.2	-	9	1230	c.913G>A	c.(913-915)Gtt>Att	p.V305I	POC1A_ENST00000296484.2_Missense_Mutation_p.V305I|POC1A_ENST00000474012.1_Missense_Mutation_p.V267I	NM_001161580.1	NP_001155052.1	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	305						centriole|microtubule basal body				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						CCATGATCAACAATATCAAAG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	87	89			NA	NA	3		NA											NA				52156463		2203	4300	6503	SO:0001583	missense			AL117629	CCDS2846.1, CCDS54591.1, CCDS54592.1	3p21.2	2014-05-02	2013-08-21	2010-03-26	ENSG00000164087	ENSG00000164087	25886	25886		WD repeat domain containing	24488	protein-coding gene	gene with protein product		614783	WD repeat domain 51A, POC1 centriolar protein homolog A (Chlamydomonas)	WDR51A	NA	19109428, 22840364	Standard	NM_015426	NM_015426	NA	Approved	DKFZP434C245	uc003dcu.3	Q8NBT0	OTTHUMG00000157817	ENST00000394970.2:c.913G>A	3.37:g.52156463C>T	ENSP00000378421:p.Val305Ile	NA	Q0VDF8|Q2TAK6|Q96IK6|Q9UFJ8	37	CCDS54592.1	.	.	.	.	.	.	.	.	.	.	C	4.967	0.179576	0.09443	.	.	ENSG00000164087	ENST00000296484;ENST00000394970;ENST00000474012	T;T;T	0.58797	0.32;0.31;0.5	4.64	0.836	0.18891	WD40-repeat-containing domain (1);	1.093350	0.06840	N	0.795476	T	0.41305	0.1153	N	0.20807	0.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.25950	-1.0117	10	0.32370	T	0.25	.	8.4839	0.33061	0.0:0.6345:0.0:0.3655	.	305;305	Q8NBT0-2;Q8NBT0	.;POC1A_HUMAN	I	305;305;267	ENSP00000296484:V305I;ENSP00000378421:V305I;ENSP00000418968:V267I	ENSP00000296484:V305I	V	-	1	0	POC1A	52131503	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-0.017000	0.12590	0.045000	0.15804	-1.814000	0.00607	GTT	POC1A-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349686.1		-	ENST00000394970.2	Missense_Mutation	SNP	3 : 52156463 - 52156463 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	307	20
CCDC137	339230	broad.mit.edu	37	17	79637483	79637483	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79637483C>T	ENST00000329214.8	+	3	900	c.497C>T	c.(496-498)gCg>gTg	p.A166V		NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137	166										NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GCAAAAAAAGCGTGAGTGGAG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001630	splice_region_variant			BC009369	CCDS42400.1	17q25.3	2008-07-04				ENSG00000185298	339230	339230			33451	protein-coding gene	gene with protein product		614271			NA		Standard		NM_199287	NA	Approved	MGC16597	uc002kbc.4	Q6PK04		ENST00000329214.8:c.497+1C>T	17.37:g.79637483C>T		NA		37	CCDS42400.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.442249	0.25987	.	.	ENSG00000185298	ENST00000329214	D	0.90324	-2.65	4.53	1.29	0.21616	.	0.721738	0.13152	N	0.409835	T	0.76350	0.3975	N	0.12182	0.205	0.30472	N	0.773231	B	0.17465	0.022	B	0.08055	0.003	T	0.66799	-0.5832	10	0.34782	T	0.22	-9.089	1.3508	0.02172	0.1734:0.4604:0.1681:0.198	.	166	Q6PK04	CC137_HUMAN	V	166	ENSP00000329360:A166V	ENSP00000329360:A166V	A	+	2	0	CCDC137	77247888	0.999000	0.42202	0.998000	0.56505	0.896000	0.52359	0.270000	0.18607	1.103000	0.41568	0.655000	0.94253	GCG	CCDC137-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000440387.1	Missense_Mutation	+	ENST00000329214.8	Splice_Site	SNP	17 : 79637483 - 79637483 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	149	28
LRRK1	79705	broad.mit.edu	37	15	101523781	101523781	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101523781C>T	ENST00000388948.3	+	4	669	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	LRRK1_ENST00000532029.2_Missense_Mutation_p.R104C|LRRK1_ENST00000284395.5_Missense_Mutation_p.R77C	NM_024652.3	NP_078928.3	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	104					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGAGATGGTCCGCTACCTACT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	99	98			NA	NA	15		NA											NA				101523781		1973	4157	6130	SO:0001583	missense			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237	79705	79705			18608	protein-coding gene	gene with protein product		610986			NA	11347906, 14654223	Standard	NM_024652	XM_005254979	NA	Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.310C>T	15.37:g.101523781C>T	ENSP00000373600:p.Arg104Cys	NA	Q6NVH5|Q6NYC0|Q6ZNL9|Q6ZNM9|Q96JN5|Q9H5S3	37	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.239573	0.22711	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000532029	T;T;T	0.67345	-0.26;-0.26;-0.26	5.7	3.65	0.41850	Ankyrin repeat-containing domain (4);	0.153474	0.40302	N	0.001139	T	0.63558	0.2521	M	0.82923	2.615	0.09310	N	0.999992	B;P	0.40931	0.019;0.733	B;B	0.28465	0.011;0.09	T	0.65055	-0.6261	10	0.87932	D	0	.	12.9465	0.58375	0.3792:0.6208:0.0:0.0	.	104;104	Q38SD2;Q38SD2-2	LRRK1_HUMAN;.	C	104;77;104	ENSP00000373600:R104C;ENSP00000284395:R77C;ENSP00000433268:R104C	ENSP00000284395:R77C	R	+	1	0	LRRK1	99341304	0.652000	0.27349	0.017000	0.16124	0.411000	0.31082	1.551000	0.36233	1.382000	0.46385	0.585000	0.79938	CGC	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384567.2		+	ENST00000388948.3	Missense_Mutation	SNP	15 : 101523781 - 101523781 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	738	125
PKIB	5570	broad.mit.edu	37	6	123046319	123046319	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:123046319G>A	ENST00000258014.3	+	5	396	c.237G>A	c.(235-237)aaG>aaA	p.K79K	PKIB_ENST00000392490.1_Silent_p.K72K|PKIB_ENST00000392491.2_Silent_p.K72K|PKIB_ENST00000368448.1_Silent_p.K72K|PKIB_ENST00000368452.2_Silent_p.K72K|PKIB_ENST00000368446.1_Silent_p.K81K|PKIB_ENST00000354275.2_Silent_p.K72K	NM_001270395.1	NP_001257324.1	Q9C010	IPKB_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor beta	72							cAMP-dependent protein kinase inhibitor activity			large_intestine(3)|lung(1)	4				GBM - Glioblastoma multiforme(226;0.164)		AATTGGAAAAGCCTCAAAATG	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	86	89			NA	NA	6		NA											NA				123046319		2202	4300	6502	SO:0001819	synonymous_variant				CCDS5126.1, CCDS59033.1	6q21-q22.1	2008-05-27			ENSG00000135549	ENSG00000135549	NA	5570			9018	protein-coding gene	gene with protein product		606914		PRKACN2	NA	10880337	Standard		NM_181795	NA	Approved		uc003pzc.4	Q9C010	OTTHUMG00000015488	ENST00000258014.3:c.237G>A	6.37:g.123046319G>A		NA	B2RCK2|Q567T9	37	CCDS59033.1																																																																																			PKIB-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042032.1		+	ENST00000258014.3	Silent	SNP	6 : 123046319 - 123046319 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	86	16
MAU2	23383	broad.mit.edu	37	19	19458130	19458130	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19458130C>T	ENST00000392313.6	+	13	1442	c.1263C>T	c.(1261-1263)aaC>aaT	p.N421N	MAU2_ENST00000262815.8_Silent_p.N421N	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	NA					cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						TCGTCACCAACCTGGCGAGTG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	128	136			NA	NA	19		NA											NA				19458130		2203	4300	6503	SO:0001819	synonymous_variant			AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933	23383	23383			29140	protein-coding gene	gene with protein product	sister chromatid cohesion 4	614560	KIAA0892, MAU2 chromatid cohesion factor homolog (C. elegans)	KIAA0892	NA	10048485	Standard	NM_015329	NM_015329	NA	Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.1263C>T	19.37:g.19458130C>T		NA	Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	37	CCDS32969.2																																																																																			MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316748.6		+	ENST00000392313.6	Silent	SNP	19 : 19458130 - 19458130 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	427	69
CHRFAM7A	89832	broad.mit.edu	37	15	30659671	30659671	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30659671C>T	ENST00000299847.2	-	9	1123	c.670G>A	c.(670-672)Gtg>Atg	p.V224M	CHRFAM7A_ENST00000401522.3_Missense_Mutation_p.V133M|CHRFAM7A_ENST00000397827.3_Missense_Mutation_p.V133M	NM_139320.1	NP_647536.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	224						integral to membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		TACTGCAGCACGATCACCGTC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	123	131			NA	NA	15		NA											NA				30659671		2191	4288	6479	SO:0001583	missense			AF029838	CCDS32184.1, CCDS42008.1	15q13.2	2013-04-24	2006-02-01		ENSG00000166664	ENSG00000166664	89832	89832			15781	protein-coding gene	gene with protein product		609756			NA	11829490	Standard	NM_148911	NM_139320	NA	Approved	D-10, CHRNA7-DR1	uc001zdt.1	Q494W8	OTTHUMG00000175645	ENST00000299847.2:c.670G>A	15.37:g.30659671C>T	ENSP00000299847:p.Val224Met	NA	A8KAB9	37	CCDS32184.1	.	.	.	.	.	.	.	.	.	.	.	21.7	4.193467	0.78902	.	.	ENSG00000166664	ENST00000299847;ENST00000397827;ENST00000401522	D;D;D	0.90504	-2.68;-2.68;-2.68	3.23	3.23	0.37069	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.055343	0.64402	D	0.000001	D	0.96448	0.8841	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97057	0.9768	10	0.87932	D	0	.	12.3474	0.55128	0.0:1.0:0.0:0.0	.	224	Q494W8	CRFM7_HUMAN	M	224;133;133	ENSP00000299847:V224M;ENSP00000380927:V133M;ENSP00000385389:V133M	ENSP00000299847:V224M	V	-	1	0	CHRFAM7A	28446963	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.232000	0.78116	1.535000	0.49220	0.398000	0.26397	GTG	CHRFAM7A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000430700.1		-	ENST00000299847.2	Missense_Mutation	SNP	15 : 30659671 - 30659671 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	377	21
HAVCR1	26762	broad.mit.edu	37	5	156479385	156479385	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156479385C>T	ENST00000339252.3	-	3	1192	c.660G>A	c.(658-660)caG>caA	p.Q220Q	HAVCR1_ENST00000425854.1_Silent_p.Q220Q|HAVCR1_ENST00000544197.1_Silent_p.Q220Q|HAVCR1_ENST00000522693.1_Silent_p.Q220Q|HAVCR1_ENST00000523175.1_Silent_p.Q220Q	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	215					interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTTCATGGTTCTGCCTGGGCA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	158	160			NA	NA	5		NA											NA				156479385		2024	4168	6192	SO:0001819	synonymous_variant			AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249	26762	26762		Immunoglobulin superfamily / V-set domain containing	17866	protein-coding gene	gene with protein product	T-cell immunoglobulin mucin family member 1	606518			NA	9658108, 11725301	Standard		NM_012206	NA	Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.660G>A	5.37:g.156479385C>T		NA	O43656	37	CCDS43392.1																																																																																			HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373698.1		-	ENST00000339252.3	Silent	SNP	5 : 156479385 - 156479385 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	734	59
FAR1	84188	broad.mit.edu	37	11	13743352	13743352	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:13743352G>T	ENST00000532502.1	+	1	1903	c.75G>T	c.(73-75)tgG>tgT	p.W25C	FAR1_ENST00000354817.3_Missense_Mutation_p.W401C			Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	401					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						CTTGGGTTTGGAATACTGAGA	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	79	79			NA	NA	11		NA											NA				13743352		2197	4291	6488	SO:0001583	missense			AK026381	CCDS7813.1	11p15.2	2011-09-14	2008-06-06	2008-06-06	ENSG00000197601	ENSG00000197601	84188	84188	1.2.1.-	Short chain dehydrogenase/reductase superfamily / Atypical members	26222	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 10E, member 1		male sterility domain containing 2	MLSTD2	NA	15220348, 15220349, 19027726	Standard	NM_032228	NM_032228	NA	Approved	FLJ22728, SDR10E1	uc001mld.3	Q8WVX9	OTTHUMG00000165743	ENST00000532502.1:c.75G>T	11.37:g.13743352G>T	ENSP00000434624:p.Trp25Cys	NA	D3DQW8|Q5CZA3	37		.	.	.	.	.	.	.	.	.	.	G	23.5	4.422520	0.83559	.	.	ENSG00000197601	ENST00000354817;ENST00000532502	T	0.21932	1.98	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.52191	0.1719	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.54370	-0.8304	10	0.87932	D	0	-3.4024	19.5966	0.95541	0.0:0.0:1.0:0.0	.	401	Q8WVX9	FACR1_HUMAN	C	401;25	ENSP00000346874:W401C	ENSP00000346874:W401C	W	+	3	0	FAR1	13699928	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.802000	0.96397	0.655000	0.94253	TGG	FAR1-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000385991.1		+	ENST00000532502.1	Missense_Mutation	SNP	11 : 13743352 - 13743352 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	159	35
PRSS45	377047	broad.mit.edu	37	3	46784535	46784535	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46784535C>A	ENST00000442359.2	-	3	320	c.321G>T	c.(319-321)caG>caT	p.Q107H	PRSS50_ENST00000460241.1_Intron	NM_199183.2	NP_954652.2	Q7RTY3	PRS45_HUMAN	protease, serine, 45	139	Peptidase S1.				proteolysis		serine-type endopeptidase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						CCTCAGCCTCCTGCAGCTCTG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	66	64			NA	NA	3		NA											NA				46784535		2133	4259	6392	SO:0001583	missense				CCDS46815.1	3p21.31	2010-05-07			ENSG00000188086	ENSG00000188086	377047	377047		Serine peptidases / Serine peptidases	30717	protein-coding gene	gene with protein product	testis serine protease 5				NA	12838346	Standard	NM_199183	NM_199183	NA	Approved	TESSP5	uc010hjl.3	Q7RTY3	OTTHUMG00000133480	ENST00000442359.2:c.321G>T	3.37:g.46784535C>A	ENSP00000401932:p.Gln107His	NA	A3KN77	37	CCDS46815.1	.	.	.	.	.	.	.	.	.	.	C	52	19.245299	0.99917	.	.	ENSG00000188086	ENST00000331814;ENST00000442359	D	0.94092	-3.35	4.83	3.96	0.45880	.	0.384961	0.22537	N	0.058772	D	0.94827	0.8329	.	.	.	0.27577	N	0.949706	D	0.63046	0.992	P	0.60473	0.875	D	0.89351	0.3661	9	0.54805	T	0.06	.	9.2992	0.37835	0.0:0.9023:0.0:0.0977	.	107	Q7RTY3-2	.	H	139;107	ENSP00000401932:Q107H	ENSP00000330940:Q139H	Q	-	3	2	PRSS45	46759539	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	1.290000	0.33319	1.430000	0.47334	0.650000	0.86243	CAG	PRSS45-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354558.1		-	ENST00000442359.2	Missense_Mutation	SNP	3 : 46784535 - 46784535 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	307	53
MCM10	55388	broad.mit.edu	37	10	13246275	13246275	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13246275C>A	ENST00000378694.1	+	17	2484	c.2409C>A	c.(2407-2409)taC>taA	p.Y803*	MCM10_ENST00000484800.2_Nonsense_Mutation_p.Y804*|MCM10_ENST00000378714.3_Nonsense_Mutation_p.Y803*			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	804					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AGCATGAATACCACTGGCATG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	111	117			NA	NA	10		NA											NA				13246275		2203	4300	6503	SO:0001587	stop_gained			AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328	55388	55388			18043	protein-coding gene	gene with protein product		609357	MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)		NA	11095689, 17699597	Standard	NM_182751	NM_018518	NA	Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000378694.1:c.2409C>A	10.37:g.13246275C>A	ENSP00000367966:p.Tyr803*	NA	A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	37		.	.	.	.	.	.	.	.	.	.	C	29.4	4.999927	0.93227	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	.	.	.	5.42	2.55	0.30701	.	0.488980	0.23155	N	0.051314	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-12.5109	7.6026	0.28085	0.1349:0.7218:0.0:0.1433	.	.	.	.	X	803;804;804;803	.	ENSP00000354945:Y804X	Y	+	3	2	MCM10	13286281	0.985000	0.35326	0.937000	0.37676	0.037000	0.13140	0.472000	0.22116	0.661000	0.30985	-0.169000	0.13324	TAC	MCM10-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000046850.1		+	ENST00000378694.1	Nonsense_Mutation	SNP	10 : 13246275 - 13246275 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	69
ADAMTS17	170691	broad.mit.edu	37	15	100591811	100591811	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100591811G>A	ENST00000268070.4	-	17	2526	c.2421C>T	c.(2419-2421)agC>agT	p.S807S		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	807	TSP type-1 2.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CTTCCCAGCCGCTGTGGGTCC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	153	153			NA	NA	15		NA											NA				100591811		2203	4300	6503	SO:0001819	synonymous_variant			AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470	170691	170691		ADAM metallopeptidases with thrombospondin type 1 motif	17109	protein-coding gene	gene with protein product		607511	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17		NA	11867212	Standard	NM_139057	NM_139057	NA	Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2421C>T	15.37:g.100591811G>A		NA	Q2I7G4|Q6ZN75	37	CCDS10383.1																																																																																			ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313595.1		-	ENST00000268070.4	Silent	SNP	15 : 100591811 - 100591811 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1075	193
FLNA	2316	broad.mit.edu	37	X	153580292	153580292	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153580292C>A	ENST00000344736.4	-	39	6789	c.6747G>T	c.(6745-6747)aaG>aaT	p.K2249N	FLNA_ENST00000369850.3_Missense_Mutation_p.K2289N|FLNA_ENST00000422373.1_Missense_Mutation_p.K2281N|FLNA_ENST00000369856.3_Missense_Mutation_p.K422N|FLNA_ENST00000360319.4_Missense_Mutation_p.K2281N			P21333	FLNA_HUMAN	filamin A, alpha	2289					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGAGCCGTCCTTGCGGTCCT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	51	50			NA	NA	X		NA											NA				153580292		1956	4149	6105	SO:0001583	missense			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924	NA	2316			3754	protein-coding gene	gene with protein product	actin binding protein 280	300017	filamin A, alpha (actin binding protein 280)	FLN1, FLN, OPD2, OPD1	NA	8406501, 12612583	Standard		NM_001456	NA	Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000344736.4:c.6747G>T	X.37:g.153580292C>A	ENSP00000358863:p.Lys2249Asn	NA	Q5HY53|Q5HY55|Q8NF52	37		.	.	.	.	.	.	.	.	.	.	C	12.64	1.998200	0.35226	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736;ENST00000444578	D;D;D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96;-2.96;-2.96	5.19	4.33	0.51752	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94964	0.8371	M	0.82056	2.57	0.51233	D	0.999918	D;P;P;P	0.62365	0.991;0.95;0.797;0.797	D;P;P;P	0.64042	0.921;0.481;0.476;0.476	D	0.94464	0.7679	10	0.72032	D	0.01	.	9.884	0.41251	0.0:0.7734:0.0:0.2266	.	422;2281;2289;2289	E9PHF0;P21333-2;P21333;E9KL45	.;.;FLNA_HUMAN;.	N	2281;1957;2281;2289;422;2249;229	ENSP00000353467:K2281N;ENSP00000416926:K2281N;ENSP00000358866:K2289N;ENSP00000358872:K422N;ENSP00000358863:K2249N;ENSP00000397824:K229N	ENSP00000358863:K2249N	K	-	3	2	FLNA	153233486	0.900000	0.30661	1.000000	0.80357	0.414000	0.31173	0.006000	0.13152	0.992000	0.38840	-0.297000	0.09499	AAG	FLNA-010	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000130295.1		-	ENST00000344736.4	Missense_Mutation	SNP	X : 153580292 - 153580292 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	255	76
TMPRSS4	56649	broad.mit.edu	37	11	117975511	117975511	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117975511C>T	ENST00000534111.1	+	5	675	c.410C>T	c.(409-411)gCc>gTc	p.A137V	TMPRSS4_ENST00000523251.1_Missense_Mutation_p.A99V|TMPRSS4_ENST00000522307.1_5'UTR|TMPRSS4_ENST00000437212.3_Missense_Mutation_p.A139V|TMPRSS4_ENST00000522824.1_Missense_Mutation_p.A139V	NM_001083947.1|NM_001173551.1|NM_019894.3	NP_001077416.1|NP_001167022|NP_063947.1	Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	139	SRCR.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		GCTGAGACAGCCTGTAGGCAG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	57	63			NA	NA	11		NA											NA				117975511		2200	4296	6496	SO:0001583	missense			AF179224	CCDS31684.1, CCDS44743.1, CCDS53716.1, CCDS53717.1	11q23.3	2010-04-13			ENSG00000137648	ENSG00000137648	56649	56649		Serine peptidases / Transmembrane	11878	protein-coding gene	gene with protein product	transmembrane serine protease 3, membrane-type serine protease 2, type II membrane serine protease	606565			NA	10825129	Standard	NM_019894	NM_001083947	NA	Approved	TMPRSS3, MT-SP2	uc021qrd.1	Q9NRS4	OTTHUMG00000164122	ENST00000534111.1:c.410C>T	11.37:g.117975511C>T	ENSP00000435184:p.Ala137Val	NA	A8MU84|B0YJB0|Q5XKQ6|Q6UX37|Q9NZA5	37	CCDS53716.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.820641	0.50633	.	.	ENSG00000137648	ENST00000534111;ENST00000523251;ENST00000437212;ENST00000522824;ENST00000522151	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	5.16	5.16	0.70880	Speract/scavenger receptor (1);Speract/scavenger receptor-related (2);	0.000000	0.56097	D	0.000026	T	0.65984	0.2744	M	0.65975	2.015	0.46167	D	0.998909	P;D;D;D	0.89917	0.929;1.0;0.997;1.0	P;D;P;D	0.97110	0.591;0.997;0.788;1.0	T	0.63734	-0.6570	10	0.33940	T	0.23	.	15.5649	0.76284	0.0:1.0:0.0:0.0	.	114;99;139;137	B7Z900;E7ERX8;Q9NRS4;Q9NRS4-3	.;.;TMPS4_HUMAN;.	V	137;99;139;139;86	ENSP00000435184:A137V;ENSP00000429209:A99V;ENSP00000416037:A139V;ENSP00000430547:A139V;ENSP00000428407:A86V	ENSP00000416037:A139V	A	+	2	0	TMPRSS4	117480721	1.000000	0.71417	1.000000	0.80357	0.163000	0.22366	5.113000	0.64640	2.403000	0.81681	0.557000	0.71058	GCC	TMPRSS4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377327.2		+	ENST00000534111.1	Missense_Mutation	SNP	11 : 117975511 - 117975511 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	252	23
N4BP3	23138	broad.mit.edu	37	5	177546611	177546611	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177546611C>T	ENST00000274605.5	+	2	386	c.27C>T	c.(25-27)ggC>ggT	p.G9G		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	9						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCCTGCTGGCATTGCCATGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	38	37			NA	NA	5		NA											NA				177546611		2203	4300	6503	SO:0001819	synonymous_variant			AB002339	CCDS34307.1	5q35.3	2012-05-17				ENSG00000145911	23138	23138			29852	protein-coding gene	gene with protein product					NA	9205841, 11717310	Standard	NM_015111	XM_006714834	NA	Approved	LZTS4	uc003mik.1	O15049		ENST00000274605.5:c.27C>T	5.37:g.177546611C>T		NA	B4DIL3|D3DWP3|Q6ZSQ6|Q7Z6I3	37	CCDS34307.1																																																																																			N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373552.2		+	ENST00000274605.5	Silent	SNP	5 : 177546611 - 177546611 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	352	92
AGPAT6	137964	broad.mit.edu	37	8	41467268	41467268	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41467268C>T	ENST00000396987.3	+	4	1257	c.330C>T	c.(328-330)ttC>ttT	p.F110F	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	110					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			CTCCAGAGTTCGAGCTCTCTG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	101	103			NA	NA	8		NA											NA				41467268		2203	4300	6503	SO:0001819	synonymous_variant			AF406612	CCDS6117.1	8p11.21	2013-02-05	2013-02-05			ENSG00000158669	137964	137964	2.3.1.15	1-acylglycerol-3-phosphate O-acyltransferases	20880	protein-coding gene	gene with protein product	lysophosphatidic acid acyltransferase, zeta	608143	1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta)		NA	12938015	Standard	NM_178819	NM_178819	NA	Approved	DKFZp586M1819, LPAAT-zeta	uc003xnz.2	Q86UL3		ENST00000396987.3:c.330C>T	8.37:g.41467268C>T		NA	Q86V89	37	CCDS6117.1																																																																																			AGPAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377158.1		+	ENST00000396987.3	Silent	SNP	8 : 41467268 - 41467268 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	603	125
MYH6	4624	broad.mit.edu	37	14	23856842	23856842	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23856842C>T	ENST00000356287.3	-	31	4575	c.4546G>A	c.(4546-4548)Gag>Aag	p.E1516K	MYH6_ENST00000405093.3_Missense_Mutation_p.E1516K			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1516					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCTAGCTGCTCAGTAAGGTCC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	78	82			NA	NA	14		NA											NA				23856842		2203	4300	6503	SO:0001583	missense			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616	4624	4624		Myosins / Myosin superfamily : Class II	7576	protein-coding gene	gene with protein product	cardiomyopathy, hypertrophic 1	160710	myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)		NA	2144212	Standard		NM_002471	NA	Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.4546G>A	14.37:g.23856842C>T	ENSP00000348634:p.Glu1516Lys	NA	A2RTX1|Q13943|Q14906|Q14907	37	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	c	35	5.552207	0.96501	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.79653	-1.29;-1.29	4.62	4.62	0.57501	Myosin tail (1);	.	.	.	.	D	0.90058	0.6895	M	0.90542	3.125	0.80722	D	1	D	0.55800	0.973	P	0.57244	0.816	D	0.92497	0.6005	9	0.72032	D	0.01	.	17.8518	0.88748	0.0:1.0:0.0:0.0	.	1516	P13533	MYH6_HUMAN	K	1516	ENSP00000386041:E1516K;ENSP00000348634:E1516K	ENSP00000348634:E1516K	E	-	1	0	MYH6	22926682	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.632000	0.83247	2.283000	0.76528	0.549000	0.68633	GAG	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071796.3		-	ENST00000356287.3	Missense_Mutation	SNP	14 : 23856842 - 23856842 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	453	73
SULF1	23213	broad.mit.edu	37	8	70533385	70533385	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70533385A>C	ENST00000260128.4	+	14	2210	c.1493A>C	c.(1492-1494)cAt>cCt	p.H498P	SULF1_ENST00000458141.2_Missense_Mutation_p.H498P|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.H498P|SULF1_ENST00000419716.3_Missense_Mutation_p.H498P	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	498					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CGCGGCTTCCATGACAAAGAC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	71	71			NA	NA	8		NA											NA				70533385		2203	4300	6503	SO:0001583	missense			AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573	23213	23213			20391	protein-coding gene	gene with protein product		610012			NA	12368295	Standard	NM_015170	NM_015170	NA	Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1493A>C	8.37:g.70533385A>C	ENSP00000260128:p.His498Pro	NA	Q86YV8|Q8NCA2|Q9UPS5	37	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	A	7.434	0.639363	0.14386	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.98822	-5.16;-5.16;-5.16;-5.16	5.95	0.437	0.16555	Alkaline-phosphatase-like, core domain (1);	0.503729	0.24341	N	0.039369	D	0.93864	0.8037	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	D	0.87386	0.2360	10	0.25751	T	0.34	.	5.2695	0.15617	0.4829:0.263:0.2542:0.0	.	498	Q8IWU6	SULF1_HUMAN	P	498	ENSP00000403040:H498P;ENSP00000260128:H498P;ENSP00000385704:H498P;ENSP00000390315:H498P	ENSP00000260128:H498P	H	+	2	0	SULF1	70695939	0.001000	0.12720	0.733000	0.30861	0.473000	0.32948	0.257000	0.18369	0.478000	0.27488	0.533000	0.62120	CAT	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378885.2		+	ENST00000260128.4	Missense_Mutation	SNP	8 : 70533385 - 70533385 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	301	54
RFTN1	23180	broad.mit.edu	37	3	16419338	16419338	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:16419338C>T	ENST00000334133.4	-	5	985	c.713G>A	c.(712-714)aGc>aAc	p.S238N	RFTN1_ENST00000432519.1_Missense_Mutation_p.S202N	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	238						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						GGAGGGTGAGCTGGGCTGCTT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	56	55			NA	NA	3		NA											NA				16419338		2203	4300	6503	SO:0001583	missense			D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378	23180	23180			30278	protein-coding gene	gene with protein product	raft-linking protein				NA	7788527, 12805216	Standard	NM_015150	NM_015150	NA	Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.713G>A	3.37:g.16419338C>T	ENSP00000334153:p.Ser238Asn	NA	Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	37	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.308571	0.40895	.	.	ENSG00000131378	ENST00000432519;ENST00000334133;ENST00000451036	T;T;T	0.49720	1.43;1.44;0.77	5.36	2.57	0.30868	.	2.132120	0.01784	N	0.031937	T	0.31136	0.0787	N	0.16307	0.4	0.09310	N	1	B;B	0.14438	0.002;0.01	B;B	0.11329	0.004;0.006	T	0.26467	-1.0102	10	0.02654	T	1	-1.0799	8.8139	0.34985	0.0:0.6756:0.0:0.3244	.	202;238	G3XAJ6;Q14699	.;RFTN1_HUMAN	N	202;238;238	ENSP00000403926:S202N;ENSP00000334153:S238N;ENSP00000403997:S238N	ENSP00000334153:S238N	S	-	2	0	RFTN1	16394342	0.000000	0.05858	0.015000	0.15790	0.471000	0.32888	-0.151000	0.10175	0.640000	0.30582	0.561000	0.74099	AGC	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346908.1		-	ENST00000334133.4	Missense_Mutation	SNP	3 : 16419338 - 16419338 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	299	12
WHSC1	7468	broad.mit.edu	37	4	1918684	1918684	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1918684G>A	ENST00000503128.1	+	4	1054	c.847G>A	c.(847-849)Gct>Act	p.A283T	WHSC1_ENST00000382895.3_Missense_Mutation_p.A283T|WHSC1_ENST00000382891.5_Missense_Mutation_p.A283T|WHSC1_ENST00000382892.2_Missense_Mutation_p.A283T|WHSC1_ENST00000514045.1_Missense_Mutation_p.A283T|WHSC1_ENST00000398261.1_Missense_Mutation_p.A283T|WHSC1_ENST00000420906.2_Missense_Mutation_p.A283T|WHSC1_ENST00000508803.1_Missense_Mutation_p.A283T			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	283	PWWP 1.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GAGCCTCGTAGCTTTTGAAGG	0.433		NA	T	IGH@	MM									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	0													77	80	79			NA	NA	4		NA											NA				1918684		2203	4300	6503	SO:0001583	missense			AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685	7468	7468		Zinc fingers, PHD-type	12766	protein-coding gene	gene with protein product		602952			NA	9618163, 9787135	Standard	NM_133330	NM_133334	NA	Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000503128.1:c.847G>A	4.37:g.1918684G>A	ENSP00000425761:p.Ala283Thr	NA	A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	37	CCDS3356.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586572	0.28268	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000382891;ENST00000382892;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000509115;ENST00000398261	T;T;T;T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49	5.25	3.39	0.38822	PWWP (3);	0.335476	0.25768	N	0.028439	T	0.39517	0.1081	N	0.02802	-0.49	0.80722	D	1	B;B;B;B	0.09022	0.002;0.001;0.002;0.002	B;B;B;B	0.10450	0.005;0.003;0.005;0.004	T	0.17930	-1.0353	10	0.25751	T	0.34	.	3.9283	0.09273	0.0897:0.2814:0.4923:0.1366	.	283;283;283;283	O96028-3;O96028;O96028-5;O96028-6	.;NSD2_HUMAN;.;.	T	283	ENSP00000423972:A283T;ENSP00000421681:A283T;ENSP00000372347:A283T;ENSP00000372348:A283T;ENSP00000399251:A283T;ENSP00000372351:A283T;ENSP00000425761:A283T;ENSP00000422878:A283T;ENSP00000381311:A283T	ENSP00000308780:A283T	A	+	1	0	WHSC1	1888482	0.952000	0.32445	0.996000	0.52242	0.998000	0.95712	1.515000	0.35845	1.445000	0.47624	0.655000	0.94253	GCT	WHSC1-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250868.2		+	ENST00000503128.1	Missense_Mutation	SNP	4 : 1918684 - 1918684 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	330	70
AHNAK	79026	broad.mit.edu	37	11	62287933	62287933	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62287933C>T	ENST00000378024.4	-	5	14230	c.13956G>A	c.(13954-13956)atG>atA	p.M4652I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4652					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCACTTTGGGCATTTTTAGGT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													211	215	214			NA	NA	11		NA											NA				62287933		2202	4299	6501	SO:0001583	missense			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942	79026	79026			347	protein-coding gene	gene with protein product	desmoyokin	103390	AHNAK nucleoprotein (desmoyokin)		NA	7987395, 12153988	Standard	NM_024060	NM_024060	NA	Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.13956G>A	11.37:g.62287933C>T	ENSP00000367263:p.Met4652Ile	NA		37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797458	0.31777	.	.	ENSG00000124942	ENST00000378024	T	0.01918	4.56	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.16428	0.0395	M	0.89534	3.04	0.39705	D	0.971245	D	0.56521	0.976	D	0.73380	0.98	T	0.12372	-1.0550	10	0.25751	T	0.34	-32.4759	18.5463	0.91047	0.0:1.0:0.0:0.0	.	4652	Q09666	AHNK_HUMAN	I	4652	ENSP00000367263:M4652I	ENSP00000367263:M4652I	M	-	3	0	AHNAK	62044509	0.998000	0.40836	1.000000	0.80357	0.275000	0.26752	1.013000	0.29937	2.468000	0.83385	0.543000	0.68304	ATG	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395572.1		-	ENST00000378024.4	Missense_Mutation	SNP	11 : 62287933 - 62287933 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1732	276
ALMS1	7840	broad.mit.edu	37	2	73829384	73829384	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73829384G>A	ENST00000264448.6	+	20	12295	c.12184G>A	c.(12184-12186)Gtc>Atc	p.V4062I	ALMS1_ENST00000464408.2_3'UTR|ALMS1_ENST00000409009.1_Missense_Mutation_p.V4020I	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4062					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GAAGTTAATAGTCCAGGAGAG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	64	62			NA	NA	2		NA											NA				73829384		2203	4300	6503	SO:0001583	missense			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127	7840	7840			428	protein-coding gene	gene with protein product		606844			NA	9063741	Standard	NM_015120	NM_015120	NA	Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.12184G>A	2.37:g.73829384G>A	ENSP00000264448:p.Val4062Ile	NA	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.330713	0.81690	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.07327	3.2;3.2	5.38	4.43	0.53597	.	0.377452	0.25436	N	0.030696	T	0.19846	0.0477	L	0.46157	1.445	0.80722	D	1	P;D	0.64830	0.835;0.994	P;D	0.72982	0.685;0.979	T	0.00038	-1.2247	10	0.62326	D	0.03	.	10.8552	0.46794	0.0971:0.0:0.9029:0.0	.	4020;4062	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	I	4020;4062	ENSP00000386627:V4020I;ENSP00000264448:V4062I	ENSP00000264448:V4062I	V	+	1	0	ALMS1	73682892	0.529000	0.26322	1.000000	0.80357	0.998000	0.95712	2.785000	0.47782	2.793000	0.96121	0.655000	0.94253	GTC	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327776.1		+	ENST00000264448.6	Missense_Mutation	SNP	2 : 73829384 - 73829384 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	86
FLOT2	2319	broad.mit.edu	37	17	27207787	27207787	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27207787G>A	ENST00000394906.2	-	12	1434	c.1357C>T	c.(1357-1359)Ctg>Ttg	p.L453L	FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000585169.1_Silent_p.L398L|FLOT2_ENST00000394908.4_Silent_p.L398L			Q14254	FLOT2_HUMAN	flotillin 2	398					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			TCGGCCAGCAGTCGGTTCACT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	93	91			NA	NA	17		NA											NA				27207787		2164	4268	6432	SO:0001819	synonymous_variant			M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589	2319	2319			3758	protein-coding gene	gene with protein product	Flotillin 2 (epidermal surface antigen 1), membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)	131560		M17S1	NA	1769667	Standard	NM_004475	XM_005257950	NA	Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394906.2:c.1357C>T	17.37:g.27207787G>A		NA		37																																																																																				FLOT2-001	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000255934.2		-	ENST00000394906.2	Silent	SNP	17 : 27207787 - 27207787 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	598	113
RALGAPA1	253959	broad.mit.edu	37	14	36143867	36143867	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36143867G>T	ENST00000382366.3	-	23	3292	c.3194C>A	c.(3193-3195)aCt>aAt	p.T1065N	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.T1052N|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.T1052N|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.T1099N	NM_001283043.1	NP_001269972.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1052					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCCAGTCAGAGTACCTCCTGC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	23	23			NA	NA	14		NA											NA				36143867		2203	4293	6496	SO:0001583	missense			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373	253959	253959			17770	protein-coding gene	gene with protein product	tuberin-like protein 1, GAP-related interacting protein to E12	608884	GTPase activating RANGAP domain-like 1, GTPase activating Rap/RanGAP domain-like 1	GARNL1	NA	19520869	Standard	XM_210022	NM_014990	NA	Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000382366.3:c.3194C>A	14.37:g.36143867G>T	ENSP00000371803:p.Thr1065Asn	NA	A6NMA4|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	37		.	.	.	.	.	.	.	.	.	.	G	12.80	2.046533	0.36085	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52	5.32	5.32	0.75619	.	0.061056	0.64402	D	0.000002	T	0.69124	0.3076	L	0.46157	1.445	0.58432	D	0.999992	P;B;P;B	0.47545	0.897;0.047;0.763;0.104	P;B;B;B	0.47206	0.541;0.04;0.173;0.024	T	0.64757	-0.6332	10	0.09590	T	0.72	-15.642	19.0012	0.92834	0.0:0.0:1.0:0.0	.	1099;1065;1052;1052	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	N	1052;1052;1052;1099;1065;1099	ENSP00000374348:T1052N;ENSP00000302647:T1052N;ENSP00000258840:T1099N;ENSP00000371803:T1065N;ENSP00000451877:T1099N	ENSP00000258840:T1099N	T	-	2	0	RALGAPA1	35213618	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.522000	0.73783	2.466000	0.83321	0.591000	0.81541	ACT	RALGAPA1-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000409830.1		-	ENST00000382366.3	Missense_Mutation	SNP	14 : 36143867 - 36143867 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	287	49
SRSF11	9295	broad.mit.edu	37	1	70710389	70710389	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70710389C>T	ENST00000370950.3	+	9	905	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	SRSF11_ENST00000370951.1_Missense_Mutation_p.R275W|SRSF11_ENST00000484162.1_3'UTR|SRSF11_ENST00000370949.1_Missense_Mutation_p.R215W|SRSF11_ENST00000405432.1_Missense_Mutation_p.R275W			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	275	10 X 8 AA approximate repeats of R-R-S-R- S-R-S-R.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	p.R275W(1)		large_intestine(3)|ovary(2)|skin(1)	6						CAGATCGAGACGGCGGTCACA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											80	78	79			NA	NA	1		NA											NA				70710389		2203	4300	6503	SO:0001583	missense			M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754	9295	9295		Serine/arginine-rich splicing factors, RNA binding motif (RRM) containing	10782	protein-coding gene	gene with protein product	SR splicing factor 11	602010	splicing factor, arginine/serine-rich 11	SFRS11	NA	1896467, 20516191	Standard	NM_004768	NM_004768	NA	Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.823C>T	1.37:g.70710389C>T	ENSP00000359988:p.Arg275Trp	NA	Q5T758	37	CCDS647.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899721	0.52227	.	.	ENSG00000116754	ENST00000370951;ENST00000370950;ENST00000405432;ENST00000395136;ENST00000370949	D;D;D;T;T	0.84370	-1.84;-1.84;-1.84;2.5;-0.68	5.53	4.41	0.53225	.	0.190975	0.53938	D	0.000051	D	0.89667	0.6781	M	0.78637	2.42	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.993;0.993;0.99	D	0.90884	0.4756	10	0.72032	D	0.01	.	12.848	0.57842	0.8578:0.1422:0.0:0.0	.	215;275;275;275	Q5T757;Q6PJB9;Q8IWE6;Q05519	.;.;.;SRS11_HUMAN	W	275;275;275;275;215	ENSP00000359989:R275W;ENSP00000359988:R275W;ENSP00000384357:R275W;ENSP00000378568:R275W;ENSP00000359987:R215W	ENSP00000359987:R215W	R	+	1	2	SRSF11	70482977	1.000000	0.71417	0.920000	0.36463	0.728000	0.41692	5.367000	0.66127	1.045000	0.40225	-0.410000	0.06199	CGG	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025889.1		+	ENST00000370950.3	Missense_Mutation	SNP	1 : 70710389 - 70710389 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	383	45
KCNA4	3739	broad.mit.edu	37	11	30033811	30033811	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30033811T>G	ENST00000328224.6	-	2	1648	c.415A>C	c.(415-417)Agg>Cgg	p.R139R		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	139						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TAGTAAAACCTTCcctcctct	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	51	51			NA	NA	11		NA											NA				30033811		2193	4294	6487	SO:0001819	synonymous_variant			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255	3739	3739		Potassium channels, Voltage-gated ion channels / Potassium channels	6222	protein-coding gene	gene with protein product		176266	potassium voltage-gated channel, shaker-related subfamily, member 4-like	KCNA4L	NA	2263489, 16382104	Standard	NM_002233	NM_002233	NA	Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.415A>C	11.37:g.30033811T>G		NA		37	CCDS41629.1																																																																																			KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388074.2		-	ENST00000328224.6	Silent	SNP	11 : 30033811 - 30033811 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	279	45
ZNF845	91664	broad.mit.edu	37	19	53855957	53855957	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53855957T>C	ENST00000595091.1	+	5	2248	c.2029T>C	c.(2029-2031)Tac>Cac	p.Y677H	ZNF845_ENST00000458035.1_Missense_Mutation_p.Y677H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	677				Missing (in Ref. 1; BAG58121).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TCGGAAGTCATACCTTACATG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	58	59			NA	NA	19		NA											NA				53855957		692	1591	2283	SO:0001583	missense			BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799	91664	91664		Zinc fingers, C2H2-type, -	25112	protein-coding gene	gene with protein product					NA		Standard	XM_039908	NM_138374	NA	Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2029T>C	19.37:g.53855957T>C	ENSP00000470005:p.Tyr677His	NA		37	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.885213	0.00532	.	.	ENSG00000213799	ENST00000458035	T	0.07444	3.19	2.22	-4.43	0.03568	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02230	0.0069	N	0.03281	-0.365	0.09310	N	1	B	0.15473	0.013	B	0.13407	0.009	T	0.32375	-0.9909	9	0.07813	T	0.8	.	0.9943	0.01463	0.2782:0.3475:0.136:0.2383	.	677	Q96IR2	ZN845_HUMAN	H	677	ENSP00000388311:Y677H	ENSP00000388311:Y677H	Y	+	1	0	ZNF845	58547769	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-14.301000	0.00000	-3.227000	0.00210	-1.526000	0.00926	TAC	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464359.1		+	ENST00000595091.1	Missense_Mutation	SNP	19 : 53855957 - 53855957 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	608	110
SS18	6760	broad.mit.edu	37	18	23612494	23612494	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:23612494G>A	ENST00000415083.2	-	10	1154	c.1099C>T	c.(1099-1101)Cct>Tct	p.P367S	SS18_ENST00000542743.1_Missense_Mutation_p.P284S|SS18_ENST00000545952.1_Missense_Mutation_p.P284S|SS18_ENST00000269137.7_Missense_Mutation_p.P336S|SS18_ENST00000539849.1_Missense_Mutation_p.P285S|SS18_ENST00000542420.2_Missense_Mutation_p.P344S	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	367	2 X 13 AA imperfect tandem repeats.|Gln-rich.	Breakpoint for translocation to form the SSXT-SSX1 fusion protein (rare).			positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					CCCTGTGAAGGACCTGAAAAT	0.453		NA	T	SSX1,  SSX2	synovial sarcoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		18	18q11.2	6760	synovial sarcoma translocation, chromosome 18		M	0													130	113	119			NA	NA	18		NA											NA				23612494		2203	4300	6503	SO:0001583	missense			X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380	6760	6760			11340	protein-coding gene	gene with protein product		600192		SSXT	NA	8152806, 7951320, 16484776	Standard		XM_005258334	NA	Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.1099C>T	18.37:g.23612494G>A	ENSP00000414516:p.Pro367Ser	NA	B0YJ95|Q16404|Q4VAX1|Q9BXC6	37	CCDS32807.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.259899	0.59321	.	.	ENSG00000141380	ENST00000415083;ENST00000269138;ENST00000269137;ENST00000542420;ENST00000542743;ENST00000539849;ENST00000545952;ENST00000539244	T;T;T;T;T	0.34072	1.41;1.4;1.44;1.38;1.44	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.52821	0.1758	L	0.47190	1.495	0.80722	D	1	D;D;D	0.63880	0.993;0.993;0.993	D;D;D	0.70227	0.968;0.968;0.968	T	0.42816	-0.9429	10	0.28530	T	0.3	-3.721	18.4141	0.90562	0.0:0.0:1.0:0.0	.	284;336;367	B4E2J6;Q4VAX0;Q15532	.;.;SSXT_HUMAN	S	370;367;336;344;284;285;284;82	ENSP00000269137:P336S;ENSP00000438066:P344S;ENSP00000444551:P284S;ENSP00000444647:P285S;ENSP00000443097:P284S	ENSP00000269137:P336S	P	-	1	0	SS18	21866492	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	9.420000	0.97426	2.419000	0.82065	0.467000	0.42956	CCT	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000446226.1		-	ENST00000415083.2	Missense_Mutation	SNP	18 : 23612494 - 23612494 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	462	69
EPB41L4A	64097	broad.mit.edu	37	5	111643154	111643154	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:111643154C>T	ENST00000261486.5	-	2	409	c.133G>A	c.(133-135)Gta>Ata	p.V45I		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	45	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TGATGGAATACGTGGTCAAGG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	102	104			NA	NA	5		NA											NA				111643154		1875	4109	5984	SO:0001583	missense			AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595	64097	64097			13278	protein-coding gene	gene with protein product		612141			NA	10874211	Standard		XM_005272043	NA	Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.133G>A	5.37:g.111643154C>T	ENSP00000261486:p.Val45Ile	NA	A4FUI6	37	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.480657	0.44044	.	.	ENSG00000129595	ENST00000261486	D	0.82167	-1.58	5.82	4.77	0.60923	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.215065	0.37809	N	0.001931	T	0.80613	0.4656	M	0.66378	2.025	0.35913	D	0.831215	B	0.30605	0.287	B	0.23574	0.047	D	0.83844	0.0259	10	0.46703	T	0.11	.	15.5137	0.75806	0.0:0.9219:0.0:0.0781	.	45	Q9HCS5	E41LA_HUMAN	I	45	ENSP00000261486:V45I	ENSP00000261486:V45I	V	-	1	0	EPB41L4A	111671053	1.000000	0.71417	0.991000	0.47740	0.894000	0.52154	4.392000	0.59659	2.754000	0.94517	0.643000	0.83706	GTA	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370969.1		-	ENST00000261486.5	Missense_Mutation	SNP	5 : 111643154 - 111643154 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	277	42
LRRK1	79705	broad.mit.edu	37	15	101605829	101605829	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101605829C>A	ENST00000388948.3	+	32	5546	c.5187C>A	c.(5185-5187)ccC>ccA	p.P1729P	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000532145.1_3'UTR|LRRK1_ENST00000284395.5_Silent_p.P1726P	NM_024652.3	NP_078928.3	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1729					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGCTGGAGCCCTACATGGCCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	79	75			NA	NA	15		NA											NA				101605829		2081	4212	6293	SO:0001819	synonymous_variant			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237	79705	79705			18608	protein-coding gene	gene with protein product		610986			NA	11347906, 14654223	Standard	NM_024652	XM_005254979	NA	Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.5187C>A	15.37:g.101605829C>A		NA	Q6NVH5|Q6NYC0|Q6ZNL9|Q6ZNM9|Q96JN5|Q9H5S3	37	CCDS42086.1																																																																																			LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384567.2		+	ENST00000388948.3	Silent	SNP	15 : 101605829 - 101605829 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	386	16
WDR17	116966	broad.mit.edu	37	4	177073091	177073091	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:177073091C>A	ENST00000508596.1	+	17	2685	c.2433C>A	c.(2431-2433)taC>taA	p.Y811*	WDR17_ENST00000393643.2_Nonsense_Mutation_p.Y811*|WDR17_ENST00000280190.4_Nonsense_Mutation_p.Y835*|WDR17_ENST00000507824.2_Nonsense_Mutation_p.Y818*	NM_181265.3	NP_851782.3	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	835										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TTCAGAGATACTGTGAACTTA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	101	101			NA	NA	4		NA											NA				177073091		2203	4300	6503	SO:0001587	stop_gained			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627	116966	116966		WD repeat domain containing	16661	protein-coding gene	gene with protein product		609005			NA	12401215	Standard		NM_170710	NA	Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000508596.1:c.2433C>A	4.37:g.177073091C>A	ENSP00000422763:p.Tyr811*	NA		37	CCDS43284.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.143522|8.143522	0.98675|0.98675	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000443118|ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	.|.	.|.	.|.	5.55|5.55	0.847|0.847	0.18961|0.18961	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.23014|.	0.0556|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.40289|.	-0.9571|.	3|.	.|0.02654	.|T	.|1	-17.2167|-17.2167	10.4311|10.4311	0.44409|0.44409	0.0:0.5262:0.0:0.4738|0.0:0.5262:0.0:0.4738	.|.	.|.	.|.	.|.	M|X	78|811;811;835;818	.|.	.|ENSP00000280190:Y835X	L|Y	+|+	1|3	2|2	WDR17|WDR17	177310085|177310085	0.769000|0.769000	0.28531|0.28531	0.999000|0.999000	0.59377|0.59377	0.997000|0.997000	0.91878|0.91878	-0.069000|-0.069000	0.11542|0.11542	0.062000|0.062000	0.16340|0.16340	0.549000|0.549000	0.68633|0.68633	CTG|TAC	WDR17-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362335.1		+	ENST00000508596.1	Nonsense_Mutation	SNP	4 : 177073091 - 177073091 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	272	8
OGFRL1	79627	broad.mit.edu	37	6	72011229	72011229	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:72011229G>T	ENST00000370435.4	+	7	967	c.833G>T	c.(832-834)aGt>aTt	p.S278I	RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	278						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						ATTAAGCAGAGTGCTCTAGAG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	85	82			NA	NA	6		NA											NA				72011229		2203	4300	6503	SO:0001583	missense				CCDS34482.1	6q13	2008-02-05			ENSG00000119900	ENSG00000119900	79627	79627			21378	protein-coding gene	gene with protein product					NA		Standard	NM_024576	NM_024576	NA	Approved	dJ331H24.1	uc003pfx.1	Q5TC84	OTTHUMG00000015000	ENST00000370435.4:c.833G>T	6.37:g.72011229G>T	ENSP00000359464:p.Ser278Ile	NA	Q2TAC1|Q8NEQ4|Q9H7B5	37	CCDS34482.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463810	0.84425	.	.	ENSG00000119900	ENST00000370435	T	0.55234	0.53	6.04	6.04	0.98038	Opioid growth factor receptor (OGFr) conserved domain (1);	0.000000	0.85682	D	0.000000	T	0.72011	0.3408	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73161	-0.4070	10	0.87932	D	0	-26.5249	20.5948	0.99439	0.0:0.0:1.0:0.0	.	278	Q5TC84	OGRL1_HUMAN	I	278	ENSP00000359464:S278I	ENSP00000359464:S278I	S	+	2	0	OGFRL1	72067950	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	9.869000	0.99810	2.873000	0.98535	0.563000	0.77884	AGT	OGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041153.2		+	ENST00000370435.4	Missense_Mutation	SNP	6 : 72011229 - 72011229 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	650	142
KIAA2018	205717	broad.mit.edu	37	3	113375352	113375352	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113375352G>T	ENST00000491165.1	-	7	667				KIAA2018_ENST00000316407.4_Missense_Mutation_p.A1726D|KIAA2018_ENST00000478658.1_Missense_Mutation_p.A1726D			Q68DE3	K2018_HUMAN	KIAA2018	NA					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GATATCTGAGGCCACAGTATG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	114	115			NA	NA	3		NA											NA				113375352		1877	4118	5995	SO:0001627	intron_variant			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542	205717	205717			30494	protein-coding gene	gene with protein product					NA		Standard	NM_001009899	XM_005247208	NA	Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000491165.1:c.257-6655C>A	3.37:g.113375352G>T		NA	Q7Z3L9|Q8IVF3|Q9H8T4	37		.	.	.	.	.	.	.	.	.	.	G	9.415	1.081650	0.20309	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.15603	2.41;2.41	5.6	4.73	0.59995	.	0.444083	0.24134	N	0.041223	T	0.09598	0.0236	N	0.19112	0.55	0.19300	N	0.999979	B	0.27559	0.181	B	0.24155	0.051	T	0.21518	-1.0243	10	0.36615	T	0.2	-0.136	5.2305	0.15420	0.0798:0.1796:0.6145:0.1261	.	1726	Q68DE3	K2018_HUMAN	D	1726	ENSP00000320794:A1726D;ENSP00000420721:A1726D	ENSP00000320794:A1726D	A	-	2	0	KIAA2018	114858042	0.919000	0.31177	0.917000	0.36280	0.950000	0.60333	3.053000	0.49901	1.368000	0.46115	0.655000	0.94253	GCC	KIAA2018-002	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000354588.2		-	ENST00000491165.1	Intron	SNP	3 : 113375352 - 113375352 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	552	124
TRAP1	10131	broad.mit.edu	37	16	3722703	3722703	+	Missense_Mutation	SNP	C	C	T	rs148180859	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3722703C>T	ENST00000575671.1	-	5	1265	c.536G>A	c.(535-537)cGa>cAa	p.R179Q	TRAP1_ENST00000538171.1_Missense_Mutation_p.R335Q|TRAP1_ENST00000246957.5_Missense_Mutation_p.R388Q|TRAP1_ENST00000573872.1_Intron			Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	388					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				CAGCGTACCTCGGATGAAGCG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	GLN/ARG	0,4390	2.1+/-5.4	0,0,2195	113	78	90		1163	5.3	1	16	dbSNP_134	90	6,8594	4.3+/-15.6	0,6,4294	yes	missense	TRAP1	NM_016292.2	43	0,6,6489	TT,TC,CC	NA	0.0698,0.0,0.0462	probably-damaging	388/705	3722703	6,12984	2195	4300	6495	SO:0001583	missense			AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602	10131	10131		Heat shock proteins / HSPC	16264	protein-coding gene	gene with protein product		606219			NA	10652318, 7876093	Standard	NM_016292	NM_016292	NA	Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000575671.1:c.536G>A	16.37:g.3722703C>T	ENSP00000458166:p.Arg179Gln	NA	D3DUC8|O43642|O75235|Q9UHL5	37		.	.	.	.	.	.	.	.	.	.	C	24.8	4.574950	0.86542	0.0	6.98E-4	ENSG00000126602	ENST00000246957;ENST00000538171	T;T	0.09911	2.93;2.93	5.35	5.35	0.76521	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.85682	D	0.000000	T	0.23926	0.0579	M	0.76727	2.345	0.80722	D	1	P;P	0.42941	0.756;0.794	B;P	0.46659	0.388;0.523	T	0.00581	-1.1660	10	0.52906	T	0.07	-19.8289	18.3915	0.90485	0.0:1.0:0.0:0.0	.	335;388	F5H897;Q12931	.;TRAP1_HUMAN	Q	388;335	ENSP00000246957:R388Q;ENSP00000442070:R335Q	ENSP00000246957:R388Q	R	-	2	0	TRAP1	3662704	1.000000	0.71417	0.975000	0.42487	0.215000	0.24574	5.675000	0.68123	2.665000	0.90641	0.491000	0.48974	CGA	TRAP1-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000438777.1		-	ENST00000575671.1	Missense_Mutation	SNP	16 : 3722703 - 3722703 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	91	24
CGN	57530	broad.mit.edu	37	1	151497153	151497153	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151497153C>T	ENST00000271636.7	+	8	1538	c.1405C>T	c.(1405-1407)Ctg>Ttg	p.L469L		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	463	Glu-rich.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCTCCAGGACCTGTTAGAGAC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	18	17			NA	NA	1		NA											NA				151497153		2199	4296	6495	SO:0001819	synonymous_variant			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375	57530	57530			17429	protein-coding gene	gene with protein product		609473			NA	11042084, 12529927	Standard	NM_020770	NM_020770	NA	Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.1405C>T	1.37:g.151497153C>T		NA	A6H8L3|A7MD22|Q5T386|Q9NR25	37	CCDS999.1																																																																																			CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034900.3		+	ENST00000271636.7	Silent	SNP	1 : 151497153 - 151497153 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	149	27
ARHGAP20	57569	broad.mit.edu	37	11	110454328	110454328	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110454328T>C	ENST00000529591.1	-	3	507	c.178A>G	c.(178-180)Att>Gtt	p.I60V	ARHGAP20_ENST00000527598.1_Missense_Mutation_p.I481V|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.I481V|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.I494V|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.I491V|ARHGAP20_ENST00000260283.4_Missense_Mutation_p.I517V|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.I491V			Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	517					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GGCCAAAGAATACTTGGAGCG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	115	120			NA	NA	11		NA											NA				110454328		2201	4298	6499	SO:0001583	missense			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727	57569	57569		Rho GTPase activating proteins	18357	protein-coding gene	gene with protein product		609568			NA	14532992	Standard	NM_020809	NM_020809	NA	Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000529591.1:c.178A>G	11.37:g.110454328T>C	ENSP00000437905:p.Ile60Val	NA	A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	37		.	.	.	.	.	.	.	.	.	.	T	14.10	2.435130	0.43224	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.47528	0.84;0.84;1.85;0.84;0.84;0.84;0.84	5.78	0.592	0.17471	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.330773	0.30043	N	0.010550	T	0.42154	0.1190	L	0.46819	1.47	0.27901	N	0.938968	B;B;B	0.33044	0.395;0.281;0.238	B;B;B	0.43360	0.293;0.417;0.341	T	0.40924	-0.9537	10	0.59425	D	0.04	.	3.8261	0.08855	0.1027:0.1344:0.444:0.3189	.	491;517;494	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	V	517;491;60;494;481;491;481	ENSP00000260283:I517V;ENSP00000349660:I491V;ENSP00000437905:I60V;ENSP00000432076:I494V;ENSP00000436319:I481V;ENSP00000436522:I491V;ENSP00000431399:I481V	ENSP00000260283:I517V	I	-	1	0	ARHGAP20	109959538	1.000000	0.71417	0.987000	0.45799	0.958000	0.62258	0.963000	0.29293	-0.073000	0.12842	-0.326000	0.08463	ATT	ARHGAP20-006	KNOWN	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000390629.2		-	ENST00000529591.1	Missense_Mutation	SNP	11 : 110454328 - 110454328 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	214	40
ABCA8	10351	broad.mit.edu	37	17	66925243	66925243	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66925243C>T	ENST00000269080.2	-	8	1209	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	ABCA8_ENST00000586539.1_Missense_Mutation_p.E358K|ABCA8_ENST00000430352.2_Missense_Mutation_p.E358K	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	358						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AAAATCCACTCCAAGGATGCA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	78	84			NA	NA	17		NA											NA				66925243		2203	4300	6503	SO:0001583	missense			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338	10351	10351		ATP binding cassette transporters / subfamily A	38	protein-coding gene	gene with protein product		612505			NA		Standard	NM_007168	XM_005256938	NA	Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.1072G>A	17.37:g.66925243C>T	ENSP00000269080:p.Glu358Lys	NA	Q86WW0	37	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962589	0.53400	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	D;D	0.86164	-2.08;-2.08	4.67	4.67	0.58626	.	0.000000	0.51477	D	0.000085	T	0.82102	0.4964	M	0.67953	2.075	0.36977	D	0.894113	P;B;B;B;B	0.36125	0.538;0.048;0.001;0.009;0.048	B;B;B;B;B	0.33750	0.169;0.126;0.012;0.062;0.072	T	0.79997	-0.1567	10	0.02654	T	1	.	13.2739	0.60177	0.0:0.8394:0.1606:0.0	.	297;358;358;358;358	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	K	358;358;297	ENSP00000269080:E358K;ENSP00000402814:E358K	ENSP00000269080:E358K	E	-	1	0	ABCA8	64436838	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.417000	0.44653	2.592000	0.87571	0.655000	0.94253	GAG	ABCA8-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450172.1		-	ENST00000269080.2	Missense_Mutation	SNP	17 : 66925243 - 66925243 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	260	51
AFF3	3899	broad.mit.edu	37	2	100210308	100210308	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100210308G>A	ENST00000409236.2	-	13	1927	c.1815C>T	c.(1813-1815)ccC>ccT	p.P605P	AFF3_ENST00000409579.1_Silent_p.P630P|AFF3_ENST00000317233.4_Silent_p.P605P|AFF3_ENST00000356421.2_Silent_p.P630P			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	NA					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CGGGCTCCTCGGGCCGGTGGC	0.751		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													9	12	11			NA	NA	2		NA											NA				100210308		2058	4079	6137	SO:0001819	synonymous_variant			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218	3899	3899			6473	protein-coding gene	gene with protein product		601464	lymphoid nuclear protein related to AF4	LAF4	NA	8662235, 8555498	Standard	NM_002285	XM_005263945	NA	Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1815C>T	2.37:g.100210308G>A		NA	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	37	CCDS42723.1																																																																																			AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328982.3		-	ENST00000409236.2	Silent	SNP	2 : 100210308 - 100210308 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	203	59
PRMT10	0	broad.mit.edu	37	4	148575447	148575447	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:148575447T>G	ENST00000322396.6	-	9	1843	c.1601A>C	c.(1600-1602)cAt>cCt	p.H534P	TMEM184C_ENST00000508208.1_Intron|PRMT10_ENST00000541232.1_Missense_Mutation_p.H421P	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN		534						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						AAAGCCTTCATGATATGGGAT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													177	167	171			NA	NA	4		NA											NA				148575447		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000322396.6:c.1601A>C	4.37:g.148575447T>G	ENSP00000314396:p.His534Pro	NA	A8KA39|Q6ZR58|Q8N383|Q9BT55|Q9NT98	37	CCDS3771.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.122919	0.77436	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	T;T	0.29917	1.55;1.55	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.55305	0.1912	M	0.76002	2.32	0.80722	D	1	D	0.71674	0.998	D	0.64237	0.923	T	0.58763	-0.7579	10	0.72032	D	0.01	.	16.5763	0.84648	0.0:0.0:0.0:1.0	.	534	Q6P2P2	ANM10_HUMAN	P	534;421	ENSP00000314396:H534P;ENSP00000439508:H421P	ENSP00000314396:H534P	H	-	2	0	PRMT10	148794897	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	7.374000	0.79633	2.317000	0.78254	0.459000	0.35465	CAT	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364650.1		-	ENST00000322396.6	Missense_Mutation	SNP	4 : 148575447 - 148575447 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	671	131
TMEM131	23505	broad.mit.edu	37	2	98373796	98373796	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98373796G>T	ENST00000186436.5	-	41	5646	c.5418C>A	c.(5416-5418)agC>agA	p.S1806R		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1806	Ser-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						ACCAAATGGAGCTGCTGAATG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	148	147			NA	NA	2		NA											NA				98373796		2146	4246	6392	SO:0001583	missense			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568	23505	23505			30366	protein-coding gene	gene with protein product		615659			NA	9039502, 10996388	Standard	XM_371542	NM_015348	NA	Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.5418C>A	2.37:g.98373796G>T	ENSP00000186436:p.Ser1806Arg	NA		37	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304642	0.60305	.	.	ENSG00000075568	ENST00000186436	T	0.38077	1.16	5.48	2.51	0.30379	.	0.294098	0.46758	D	0.000266	T	0.24624	0.0597	L	0.32530	0.975	0.80722	D	1	B;P	0.41188	0.058;0.741	B;B	0.39258	0.03;0.295	T	0.02676	-1.1125	10	0.46703	T	0.11	-1.3683	7.3311	0.26584	0.4024:0.0:0.5976:0.0	.	1806;186	Q92545;Q0P631	TM131_HUMAN;.	R	1806	ENSP00000186436:S1806R	ENSP00000186436:S1806R	S	-	3	2	TMEM131	97740228	0.956000	0.32656	0.852000	0.33557	0.931000	0.56810	1.564000	0.36375	0.874000	0.35823	0.643000	0.83706	AGC	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329285.2		-	ENST00000186436.5	Missense_Mutation	SNP	2 : 98373796 - 98373796 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	432	99
SET	6418	broad.mit.edu	37	9	131455036	131455036	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131455036A>C	ENST00000322030.8	+	4	727	c.370A>C	c.(370-372)Ata>Cta	p.I124L	SET_ENST00000477806.1_3'UTR|SET_ENST00000372688.4_Missense_Mutation_p.I113L|SET_ENST00000409104.3_Missense_Mutation_p.I115L|SET_ENST00000372692.4_Missense_Mutation_p.I137L	NM_003011.3	NP_003002.2	Q01105	SET_HUMAN	SET nuclear proto-oncogene	137					DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly	cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex	histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		AGGTTACAGAATAGATTTTGT	0.363		NA	T	NUP214	AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		9	9q34	6418	SET translocation		L	0													76	78	77			NA	NA	9		NA											NA				131455036		2203	4300	6503	SO:0001583	missense			M93651	CCDS6907.1, CCDS48037.1, CCDS59149.1, CCDS59150.1	9q34	2014-06-25	2014-06-25		ENSG00000119335	ENSG00000119335	6418	6418			10760	protein-coding gene	gene with protein product	protein phosphatase type 2A inhibitor, Template-Activating Factor-I, chromatin remodelling factor	600960	SET translocation (myeloid leukemia-associated)		NA	1630450, 8626647	Standard	NM_001122821	NM_003011	NA	Approved	PHAPII, 2PP2A, IPP2A2	uc022bol.1	Q01105	OTTHUMG00000020755	ENST00000322030.8:c.370A>C	9.37:g.131455036A>C	ENSP00000318012:p.Ile124Leu	NA	A5A5H4|Q15541|Q5VXV1|Q6FHZ5	37	CCDS6907.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.935384	0.92458	.	.	ENSG00000119335	ENST00000372692;ENST00000409104;ENST00000322030;ENST00000372688;ENST00000372686	T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.23410	0.0566	L	0.39514	1.22	0.80722	D	1	B;P;P	0.44195	0.391;0.478;0.828	B;B;P	0.48524	0.432;0.273;0.58	T	0.01068	-1.1462	10	0.87932	D	0	.	14.3996	0.67034	1.0:0.0:0.0:0.0	.	113;124;137	A6NGV1;Q01105-2;Q01105	.;.;SET_HUMAN	L	137;115;124;113;112	ENSP00000361777:I137L;ENSP00000387321:I115L;ENSP00000318012:I124L;ENSP00000361773:I113L;ENSP00000361771:I112L	ENSP00000318012:I124L	I	+	1	0	SET	130494857	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.655000	0.91098	1.995000	0.58328	0.454000	0.30748	ATA	SET-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054477.2		+	ENST00000322030.8	Missense_Mutation	SNP	9 : 131455036 - 131455036 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	243	32
MEGF6	1953	broad.mit.edu	37	1	3432077	3432077	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3432077C>T	ENST00000356575.4	-	6	845	c.619G>A	c.(619-621)Gcc>Acc	p.A207T	MEGF6_ENST00000294599.4_Missense_Mutation_p.A102T	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	207	EGF-like 3.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TTGCCCAGGGCGCAGGAGTTA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(73;978 3658)							NA				0								C	THR/ALA	2,4226		0,2,2112	32	43	39		619	-1.1	0.1	1		39	12,8450		0,12,4219	yes	missense	MEGF6	NM_001409.3	58	0,14,6331	TT,TC,CC	NA	0.1418,0.0473,0.1103	benign	207/1542	3432077	14,12676	2114	4231	6345	SO:0001583	missense			AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591	1953	1953			3232	protein-coding gene	gene with protein product		604266	EGF-like-domain, multiple 3	EGFL3	NA	9693030	Standard	NM_001409	NM_001409	NA	Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.619G>A	1.37:g.3432077C>T	ENSP00000348982:p.Ala207Thr	NA	Q4AC86|Q5VV39	37	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	C	2.851	-0.238359	0.05944	4.73E-4	0.001418	ENSG00000162591	ENST00000294599;ENST00000356575	D;D	0.96396	-4.0;-4.0	4.22	-1.12	0.09808	Epidermal growth factor-like (1);	0.348665	0.29745	N	0.011315	D	0.91546	0.7330	M	0.66378	2.025	0.09310	N	0.999997	B;B	0.27559	0.181;0.02	B;B	0.16722	0.016;0.016	T	0.79650	-0.1715	10	0.15066	T	0.55	-7.6117	3.9544	0.09383	0.2661:0.3986:0.0:0.3353	.	207;102	O75095;O75095-2	MEGF6_HUMAN;.	T	102;207	ENSP00000294599:A102T;ENSP00000348982:A207T	ENSP00000294599:A102T	A	-	1	0	MEGF6	3421937	0.000000	0.05858	0.140000	0.22221	0.415000	0.31203	-1.955000	0.01523	-0.075000	0.12798	-0.311000	0.09066	GCC	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354866.1		-	ENST00000356575.4	Missense_Mutation	SNP	1 : 3432077 - 3432077 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	285	46
GEN1	348654	broad.mit.edu	37	2	17954522	17954522	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17954522G>A	ENST00000381254.2	+	10	1241	c.1027G>A	c.(1027-1029)Gtg>Atg	p.V343M	GEN1_ENST00000317402.7_Missense_Mutation_p.V343M|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	343					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGATAAATTGGTGAAGGTTAT	0.274		NA						Homologous recombination						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	36	35			NA	NA	2		NA											NA				17954522		2198	4290	6488	SO:0001583	missense			AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295	348654	348654			26881	protein-coding gene	gene with protein product	Holliday junction resolvase	612449	Gen endonuclease homolog 1 (Drosophila)		NA	15576351	Standard	NM_182625	NM_182625	NA	Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.1027G>A	2.37:g.17954522G>A	ENSP00000370653:p.Val343Met	NA	Q17RS9|Q6ZN37	37	CCDS1691.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.476207	0.26511	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000528873	T;T;T	0.42900	0.96;0.96;0.96	5.66	1.63	0.23807	-3&apos (1); exonuclease, C-terminal domain (1);5&apos (1);	1.197160	0.06327	N	0.705530	T	0.38348	0.1037	L	0.57536	1.79	0.09310	N	1	P	0.47106	0.89	B	0.42522	0.39	T	0.26121	-1.0112	10	0.44086	T	0.13	-0.1524	2.6399	0.04968	0.238:0.1369:0.5007:0.1244	.	343	Q17RS7	GEN_HUMAN	M	343;343;114	ENSP00000318977:V343M;ENSP00000370653:V343M;ENSP00000431542:V114M	ENSP00000318977:V343M	V	+	1	0	GEN1	17818003	0.134000	0.22483	0.131000	0.22000	0.868000	0.49771	0.403000	0.20982	0.264000	0.21851	0.650000	0.86243	GTG	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000241661.2		+	ENST00000381254.2	Missense_Mutation	SNP	2 : 17954522 - 17954522 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	112	13
EVC2	132884	broad.mit.edu	37	4	5564829	5564829	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5564829T>C	ENST00000310917.2	-	22	4164	c.3433A>G	c.(3433-3435)Aca>Gca	p.T1145A	EVC2_ENST00000344938.1_Intron|EVC2_ENST00000344408.5_Missense_Mutation_p.T1225A	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1225						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GGGAGACATGTCTTCTTTAAT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	104	102			NA	NA	4		NA											NA				5564829		2203	4300	6503	SO:0001583	missense			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040	132884	132884			19747	protein-coding gene	gene with protein product		607261			NA	12136126, 12571802	Standard	NM_147127	NM_147127	NA	Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000310917.2:c.3433A>G	4.37:g.5564829T>C	ENSP00000311683:p.Thr1145Ala	NA	Q86YT3|Q86YT4|Q8NG49	37	CCDS54718.1	.	.	.	.	.	.	.	.	.	.	T	0.032	-1.328128	0.01309	.	.	ENSG00000173040	ENST00000310917;ENST00000344408	T;T	0.74106	-0.81;-0.81	5.32	-4.61	0.03380	.	0.635267	0.15377	N	0.265509	T	0.48150	0.1484	L	0.27053	0.805	0.24101	N	0.995872	B	0.15473	0.013	B	0.10450	0.005	T	0.36529	-0.9744	10	0.14252	T	0.57	-1.3604	2.4096	0.04421	0.1119:0.1471:0.3375:0.4035	.	1225	Q86UK5	LBN_HUMAN	A	1145;1225	ENSP00000311683:T1145A;ENSP00000342144:T1225A	ENSP00000311683:T1145A	T	-	1	0	EVC2	5615730	0.005000	0.15991	0.008000	0.14137	0.272000	0.26649	-0.562000	0.05950	-1.038000	0.03279	-1.966000	0.00469	ACA	EVC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000246819.3		-	ENST00000310917.2	Missense_Mutation	SNP	4 : 5564829 - 5564829 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	761	172
CTNNA1	1495	broad.mit.edu	37	5	138264950	138264950	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138264950G>A	ENST00000518825.1	+	13	1917	c.1915G>A	c.(1915-1917)Gat>Aat	p.D639N	CTNNA1_ENST00000302763.7_Missense_Mutation_p.D639N|CTNNA1_ENST00000355078.5_Missense_Mutation_p.D536N|CTNNA1_ENST00000540387.1_Missense_Mutation_p.D269N			P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	639					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGAGGAGTTGGATGACTCTGA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	114	113			NA	NA	5		NA											NA				138264950		2203	4300	6503	SO:0001583	missense			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115	1495	1495			2509	protein-coding gene	gene with protein product		116805	catenin (cadherin-associated protein), alpha 1 (102kD)		NA	1924379	Standard	NM_001903	XM_005271898	NA	Approved	CAP102	uc003ldh.3	P35221		ENST00000518825.1:c.1915G>A	5.37:g.138264950G>A	ENSP00000427821:p.Asp639Asn	NA	Q12795	37		.	.	.	.	.	.	.	.	.	.	G	33	5.265546	0.95399	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000540387	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.46870	0.1415	M	0.65498	2.005	0.80722	D	1	P;P;B	0.36412	0.552;0.464;0.316	B;B;B	0.42087	0.274;0.375;0.245	T	0.35126	-0.9801	10	0.38643	T	0.18	-21.8087	19.3974	0.94612	0.0:0.0:1.0:0.0	.	639;516;639	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	N	536;639;639;624;639;269	ENSP00000347190:D536N;ENSP00000304669:D639N;ENSP00000427821:D639N;ENSP00000438476:D269N	ENSP00000304669:D639N	D	+	1	0	CTNNA1	138292849	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.813000	0.99286	2.752000	0.94435	0.655000	0.94253	GAT	CTNNA1-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000373876.1		+	ENST00000518825.1	Missense_Mutation	SNP	5 : 138264950 - 138264950 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	751	50
PRKAR1B	5575	broad.mit.edu	37	7	624175	624175	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:624175C>T	ENST00000406797.1	-	8	913	c.739G>A	c.(739-741)Gag>Aag	p.E247K	PRKAR1B_ENST00000544935.1_Missense_Mutation_p.E247K|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.E247K|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.E247K|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.E247K	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	247					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	p.E247K(1)		endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		AGGAACTCCTCGTACATCTTG	0.567		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)											151	108	122			NA	NA	7		NA											NA				624175		2202	4295	6497	SO:0001583	missense			M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	5575	5575	2.7.11.1		9390	protein-coding gene	gene with protein product		176911			NA	1358799, 3479018	Standard		NM_002735	NA	Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.739G>A	7.37:g.624175C>T	ENSP00000385749:p.Glu247Lys	NA	Q8N422	37	CCDS34579.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963462	0.74016	.	.	ENSG00000188191	ENST00000537384;ENST00000544935;ENST00000406797;ENST00000403562;ENST00000360274;ENST00000340920;ENST00000430040	T;T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97;1.63	4.96	4.96	0.65561	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	U	0.000000	T	0.75620	0.3874	M	0.78801	2.425	0.80722	D	1	B	0.24483	0.104	B	0.12837	0.008	T	0.76124	-0.3074	10	0.66056	D	0.02	-5.8001	17.0165	0.86421	0.0:1.0:0.0:0.0	.	247	P31321	KAP1_HUMAN	K	247;247;247;247;247;12;247	ENSP00000440449:E247K;ENSP00000444487:E247K;ENSP00000385749:E247K;ENSP00000385349:E247K;ENSP00000353415:E247K;ENSP00000402648:E247K	ENSP00000340984:E12K	E	-	1	0	PRKAR1B	590701	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	4.690000	0.61731	2.296000	0.77279	0.638000	0.83543	GAG	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322525.1		-	ENST00000406797.1	Missense_Mutation	SNP	7 : 624175 - 624175 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	174	20
SPOCD1	90853	broad.mit.edu	37	1	32258902	32258902	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32258902C>T	ENST00000360482.2	-	13	2791	c.2662G>A	c.(2662-2664)Gga>Aga	p.G888R	SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Missense_Mutation_p.G381R|SPOCD1_ENST00000533231.1_Missense_Mutation_p.G888R	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	888	SPOC.				transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CAGCTGTGTCCCGAGACCAGC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	26	26			NA	NA	1		NA											NA				32258902		2200	4297	6497	SO:0001583	missense			AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668	90853	90853			26338	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 146				NA	12477932	Standard	NM_144569	NM_144569	NA	Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.2662G>A	1.37:g.32258902C>T	ENSP00000353670:p.Gly888Arg	NA	Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	37	CCDS347.1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999365	0.93227	.	.	ENSG00000134668	ENST00000257100;ENST00000360482;ENST00000294514;ENST00000452755;ENST00000533231	T;T;T;T	0.73897	-0.79;0.4;-0.75;0.37	5.73	5.73	0.89815	Spen paralogue and orthologue SPOC, C-terminal (1);	.	.	.	.	D	0.86669	0.5988	M	0.79926	2.475	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.87606	0.2500	9	0.87932	D	0	-17.4789	15.7793	0.78246	0.0:1.0:0.0:0.0	.	888;324;888	Q6ZMY3-2;E9PPM7;Q6ZMY3	.;.;SPOC1_HUMAN	R	381;888;248;324;888	ENSP00000257100:G381R;ENSP00000353670:G888R;ENSP00000399778:G324R;ENSP00000435851:G888R	ENSP00000257100:G381R	G	-	1	0	SPOCD1	32031489	0.990000	0.36364	0.965000	0.40720	0.968000	0.65278	4.114000	0.57858	2.882000	0.98803	0.655000	0.94253	GGA	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381912.1		-	ENST00000360482.2	Missense_Mutation	SNP	1 : 32258902 - 32258902 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	83	14
LRRC8D	55144	broad.mit.edu	37	1	90398904	90398904	+	Missense_Mutation	SNP	C	C	T	rs139352797		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90398904C>T	ENST00000337338.5	+	3	684	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W	LRRC8D_ENST00000394593.3_Missense_Mutation_p.R93W	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	93						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CCAAGATGGGCGGACAACAAA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	105	91	96		277,277	-1.3	0	1	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LRRC8D	NM_001134479.1,NM_018103.4	101,101	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign,benign	93/859,93/859	90398904	1,13005	2203	4300	6503	SO:0001583	missense			AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492	55144	55144			16992	protein-coding gene	gene with protein product		612890	leucine rich repeat containing 5	LRRC5	NA		Standard	NM_018103	NM_018103	NA	Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.277C>T	1.37:g.90398904C>T	ENSP00000338887:p.Arg93Trp	NA	D3DT29|Q6UWB2|Q9NVW3	37	CCDS726.1	.	.	.	.	.	.	.	.	.	.	C	5.908	0.351627	0.11182	0.0	1.16E-4	ENSG00000171492	ENST00000337338;ENST00000394593;ENST00000532201;ENST00000414841;ENST00000527156;ENST00000441269	T;T;T	0.44482	1.49;1.49;0.92	6.07	-1.26	0.09376	.	0.859492	0.09801	N	0.754096	T	0.04182	0.0116	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36939	-0.9727	9	.	.	.	.	0.5437	0.00650	0.2241:0.3021:0.2206:0.2531	.	93	Q7L1W4	LRC8D_HUMAN	W	93	ENSP00000338887:R93W;ENSP00000378093:R93W;ENSP00000405784:R93W	.	R	+	1	2	LRRC8D	90171492	0.000000	0.05858	0.037000	0.18230	0.050000	0.14768	0.014000	0.13333	0.138000	0.18790	-0.136000	0.14681	CGG	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029203.2		+	ENST00000337338.5	Missense_Mutation	SNP	1 : 90398904 - 90398904 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	212	37
HOXD9	3235	broad.mit.edu	37	2	176987568	176987568	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176987568G>A	ENST00000249499.6	+	1	481	c.72G>A	c.(70-72)tcG>tcA	p.S24S	HOXD-AS2_ENST00000440016.2_RNA	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	homeobox D9	24						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		ACGTGGACTCGCTTATAGGCC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(47;924 952 7959 9248 12176)							NA				0													30	29	29			NA	NA	2		NA											NA				176987568		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2267.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128709	ENSG00000128709	3235	3235		Homeoboxes / ANTP class : HOXL subclass	5140	protein-coding gene	gene with protein product		142982	homeo box D9	HOX4C, HOX4	NA	1973146, 1358459	Standard		NM_014213	NA	Approved		uc010zex.2	P28356	OTTHUMG00000132516	ENST00000249499.6:c.72G>A	2.37:g.176987568G>A		NA	Q86ST1	37	CCDS2267.2																																																																																			HOXD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255698.4		+	ENST00000249499.6	Silent	SNP	2 : 176987568 - 176987568 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	196	32
CLIP2	7461	broad.mit.edu	37	7	73753262	73753262	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73753262G>A	ENST00000361545.5	+	3	933	c.606G>A	c.(604-606)tcG>tcA	p.S202S	CLIP2_ENST00000223398.6_Silent_p.S202S|CLIP2_ENST00000395060.1_Silent_p.S202S	NM_032421.2	NP_115797	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	202						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCAACGAGTCGGGATCCAACC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	34	34			NA	NA	7		NA											NA				73753262		2093	4130	6223	SO:0001819	synonymous_variant			AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665	7461	7461			2586	protein-coding gene	gene with protein product		603432	cytoplasmic linker 2, Williams-Beuren syndrome chromosome region 3	WBSCR4, CYLN2, WBSCR3	NA	8812460, 9799601	Standard	NM_003388	NM_003388	NA	Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000361545.5:c.606G>A	7.37:g.73753262G>A		NA	O14527|O43611	37	CCDS5570.1																																																																																			CLIP2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252555.1		+	ENST00000361545.5	Silent	SNP	7 : 73753262 - 73753262 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	484	81
PPIL2	23759	broad.mit.edu	37	22	22039067	22039067	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:22039067G>A	ENST00000335025.8	+	10	670	c.579G>A	c.(577-579)ccG>ccA	p.P193P	PPIL2_ENST00000456792.2_Silent_p.P172P|PPIL2_ENST00000398831.3_Silent_p.P193P|PPIL2_ENST00000492445.2_Silent_p.P193P|PPIL2_ENST00000412327.1_Silent_p.P193P|PPIL2_ENST00000406385.1_Silent_p.P193P			Q13356	PPIL2_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 2	NA					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity	p.P193P(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					AACAGGACCCGTCTTATTATC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	ovary(1)											39	39	39			NA	NA	22		NA											NA				22039067		2203	4300	6503	SO:0001819	synonymous_variant				CCDS13793.1	22q11.21	2013-01-29			ENSG00000100023	ENSG00000100023	23759	23759		U-box domain containing	9261	protein-coding gene	gene with protein product	U-box domain containing 7	607588			NA	10591208	Standard		NM_014337	NA	Approved	UBOX7, CYC4, Cyp-60	uc002zvh.4	Q13356	OTTHUMG00000030174	ENST00000335025.8:c.579G>A	22.37:g.22039067G>A		NA	Q13357|Q8TAH2|Q9BWR8	37	CCDS13793.1																																																																																			PPIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075028.4		+	ENST00000335025.8	Silent	SNP	22 : 22039067 - 22039067 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	245	35
P4HA1	5033	broad.mit.edu	37	10	74806855	74806855	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:74806855G>A	ENST00000373008.2	-	8	1021	c.905C>T	c.(904-906)cCt>cTt	p.P302L	P4HA1_ENST00000440381.1_Missense_Mutation_p.P302L|P4HA1_ENST00000307116.2_Missense_Mutation_p.P302L|P4HA1_ENST00000263556.3_Missense_Mutation_p.P302L|P4HA1_ENST00000394890.2_Missense_Mutation_p.P302L|P4HA1_ENST00000412021.2_Missense_Mutation_p.P302L			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	302						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTGTCTCCGAGGGGTCTAAAC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(147;367 2405 2662 52127)							NA				0													64	64	64			NA	NA	10		NA											NA				74806855		2203	4300	6503	SO:0001583	missense				CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	5033	5033	1.14.11.2		8546	protein-coding gene	gene with protein product	collagen prolyl 4-hydroxylase alpha(I)	176710	procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I	P4HA	NA	2556027	Standard	NM_000917	NM_001017962	NA	Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000373008.2:c.905C>T	10.37:g.74806855G>A	ENSP00000362099:p.Pro302Leu	NA	Q15082|Q15083|Q5VSQ5	37		.	.	.	.	.	.	.	.	.	.	G	21.4	4.137993	0.77775	.	.	ENSG00000122884	ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381	T;T;T;T;T;T	0.49139	0.81;0.82;0.81;0.81;0.82;0.79	5.94	5.94	0.96194	.	0.097977	0.64402	D	0.000001	T	0.58163	0.2103	M	0.81341	2.54	0.80722	D	1	B;P;P	0.40660	0.002;0.726;0.726	B;B;B	0.40864	0.014;0.342;0.236	T	0.63093	-0.6714	10	0.59425	D	0.04	-13.1687	20.369	0.98888	0.0:0.0:1.0:0.0	.	302;302;302	C9JL12;Q5VSQ6;P13674	.;.;P4HA1_HUMAN	L	302	ENSP00000307318:P302L;ENSP00000362099:P302L;ENSP00000411688:P302L;ENSP00000378353:P302L;ENSP00000263556:P302L;ENSP00000414464:P302L	ENSP00000263556:P302L	P	-	2	0	P4HA1	74476861	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.607000	0.82883	2.819000	0.97034	0.650000	0.86243	CCT	P4HA1-002	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000048602.1		-	ENST00000373008.2	Missense_Mutation	SNP	10 : 74806855 - 74806855 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	319	58
LAMP1	3916	broad.mit.edu	37	13	113975904	113975904	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113975904C>T	ENST00000332556.4	+	8	1170	c.976C>T	c.(976-978)Cga>Tga	p.R326*	LAMP1_ENST00000397181.3_Nonsense_Mutation_p.R273*	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	326	Second lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			CGGCTCCCTGCGAGCGCTGCA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	80	77			NA	NA	13		NA											NA				113975904		2009	4176	6185	SO:0001587	stop_gained			J03263	CCDS41909.1	13q34	2011-11-24			ENSG00000185896	ENSG00000185896	3916	3916		CD molecules	6499	protein-coding gene	gene with protein product		153330			NA		Standard		NM_005561	NA	Approved	CD107a	uc001vtm.1	P11279	OTTHUMG00000017380	ENST00000332556.4:c.976C>T	13.37:g.113975904C>T	ENSP00000333298:p.Arg326*	NA	Q8WU33|Q96I40|Q9BRD2|Q9NP13	37	CCDS41909.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864919	0.91511	.	.	ENSG00000185896	ENST00000332556;ENST00000397181	.	.	.	5.27	1.3	0.21679	.	0.404542	0.29040	N	0.013330	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-29.2117	12.9598	0.58451	0.61:0.39:0.0:0.0	.	.	.	.	X	326;273	.	ENSP00000333298:R326X	R	+	1	2	LAMP1	113023905	0.997000	0.39634	0.629000	0.29254	0.001000	0.01503	1.837000	0.39201	0.004000	0.14682	-1.748000	0.00681	CGA	LAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045876.2		+	ENST00000332556.4	Nonsense_Mutation	SNP	13 : 113975904 - 113975904 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	707	93
SERTAD4	56256	broad.mit.edu	37	1	210415340	210415340	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210415340G>A	ENST00000367012.3	+	4	959	c.729G>A	c.(727-729)caG>caA	p.Q243Q	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	243							protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		GTTCCCGCCAGGTGGATTTTG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	57	59			NA	NA	1		NA											NA				210415340		2203	4300	6503	SO:0001819	synonymous_variant			BC012083	CCDS1494.1	1q32.1-q41	2008-02-05			ENSG00000082497	ENSG00000082497	56256	56256			25236	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_019605	NM_019605	NA	Approved	DJ667H12.2	uc001hhy.3	Q9NUC0	OTTHUMG00000036391	ENST00000367012.3:c.729G>A	1.37:g.210415340G>A		NA	B2RD32	37	CCDS1494.1																																																																																			SERTAD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088577.1		+	ENST00000367012.3	Silent	SNP	1 : 210415340 - 210415340 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	332	68
CHP2	63928	broad.mit.edu	37	16	23767434	23767434	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23767434G>A	ENST00000300113.2	+	4	695	c.272G>A	c.(271-273)cGc>cAc	p.R91H		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	91	EF-hand 2.						calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		GCTCATTTTCGCCCTGTAGAA	0.527		NA											G	3	0.0014	NA	NA	2184	0.01	1	,	,	NA	4e-04	NA	NA	NA	0.0013	0.9839	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0													85	82	83			NA	NA	16		NA											NA				23767434		2197	4300	6497	SO:0001583	missense				CCDS10617.1	16p12.2	2013-01-11	2013-01-11		ENSG00000166869	ENSG00000166869	63928	63928		EF-hand domain containing	24927	protein-coding gene	gene with protein product					NA	12226101	Standard	NM_022097	NM_022097	NA	Approved		uc002dmb.1	O43745	OTTHUMG00000131611	ENST00000300113.2:c.272G>A	16.37:g.23767434G>A	ENSP00000300113:p.Arg91His	NA		37	CCDS10617.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	16.47	3.133391	0.56828	.	.	ENSG00000166869	ENST00000300113	T	0.30182	1.54	4.48	3.51	0.40186	EF-hand-like domain (1);	0.081158	0.48767	D	0.000165	T	0.40595	0.1123	M	0.77103	2.36	0.50171	D	0.999855	D	0.76494	0.999	P	0.57425	0.82	T	0.49293	-0.8955	10	0.48119	T	0.1	-4.8275	12.4389	0.55614	0.0:0.1709:0.8291:0.0	.	91	O43745	CHP2_HUMAN	H	91	ENSP00000300113:R91H	ENSP00000300113:R91H	R	+	2	0	AC130454.2	23674935	1.000000	0.71417	0.727000	0.30756	0.196000	0.23810	8.491000	0.90468	1.223000	0.43536	0.591000	0.81541	CGC	CHP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254498.1		+	ENST00000300113.2	Missense_Mutation	SNP	16 : 23767434 - 23767434 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	327	65
RAB11FIP4	84440	broad.mit.edu	37	17	29855524	29855524	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29855524G>A	ENST00000325874.8	+	12	1686	c.1457G>A	c.(1456-1458)cGc>cAc	p.R486H	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.R384H	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	486	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				CGACAGAACCGCCTTGAGTTC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	85	86			NA	NA	17		NA											NA				29855524		2203	4300	6503	SO:0001583	missense			AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242	84440	84440		EF-hand domain containing	30267	protein-coding gene	gene with protein product		611999			NA	11347906, 11468690	Standard	NM_032932	NM_032932	NA	Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.1457G>A	17.37:g.29855524G>A	ENSP00000312837:p.Arg486His	NA	Q52LI1|Q8N829|Q8NDT7|Q969D8	37	CCDS11267.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.082171	0.55861	.	.	ENSG00000131242	ENST00000325874;ENST00000394744	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.80385	0.4613	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.81046	-0.1110	8	.	.	.	-26.563	17.1298	0.86724	0.0:0.0:1.0:0.0	.	384;486	Q86YS3-2;Q86YS3	.;RFIP4_HUMAN	H	486	.	.	R	+	2	0	RAB11FIP4	26879644	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	9.434000	0.97515	2.711000	0.92665	0.655000	0.94253	CGC	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256195.2		+	ENST00000325874.8	Missense_Mutation	SNP	17 : 29855524 - 29855524 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	526	93
GCM2	9247	broad.mit.edu	37	6	10877516	10877516	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10877516C>T	ENST00000379491.4	-	2	347	c.200G>A	c.(199-201)cGc>cAc	p.R67H	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	67					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding	p.R67H(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GTTGGTGTTGCGCATGGCCCA	0.597		NA											C	18	0.01	0.01	0.0028	2184	0.01	0.9967	,	,	NA	0.0081	0.01	NA	NA	0.0085	0.8591	EXOME	NA	NA	2e-04	SNP								NA				1	Substitution - Missense(1)	large_intestine(1)											97	77	84			NA	NA	6		NA											NA				10877516		2203	4300	6503	SO:0001583	missense			AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827	9247	9247			4198	protein-coding gene	gene with protein product		603716	glial cells missing (Drosophila) homolog b	GCMB	NA	9928992	Standard		NM_004752	NA	Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.200G>A	6.37:g.10877516C>T	ENSP00000368805:p.Arg67His	NA	Q5THN5	37	CCDS4517.1	18	0.008241758241758242	4	0.008130081300813009	1	0.0027624309392265192	6	0.01048951048951049	7	0.009234828496042216	C	35	5.586507	0.96578	.	.	ENSG00000124827	ENST00000379491	T	0.80824	-1.42	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.90331	0.6975	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91018	0.4855	10	0.87932	D	0	-20.4115	19.8215	0.96599	0.0:1.0:0.0:0.0	.	67	O75603	GCM2_HUMAN	H	67	ENSP00000368805:R67H	ENSP00000368805:R67H	R	-	2	0	GCM2	10985502	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.538000	0.82048	2.679000	0.91253	0.650000	0.86243	CGC	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039844.1		-	ENST00000379491.4	Missense_Mutation	SNP	6 : 10877516 - 10877516 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	387	56
DMGDH	29958	broad.mit.edu	37	5	78338189	78338189	+	Silent	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78338189A>T	ENST00000255189.3	-	7	1138	c.1110T>A	c.(1108-1110)ggT>ggA	p.G370G	DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Silent_p.G169G	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	370					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		ACGTGATAGGACCATTGACAA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	111	114			NA	NA	5		NA											NA				78338189		2203	4300	6503	SO:0001819	synonymous_variant			AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	29958	29958	1.5.99.2		24475	protein-coding gene	gene with protein product		605849			NA	10767172, 11231903	Standard	NM_013391	NM_013391	NA	Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.1110T>A	5.37:g.78338189A>T		NA	B2RBN0	37	CCDS4044.1																																																																																			DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226963.3		-	ENST00000255189.3	Silent	SNP	5 : 78338189 - 78338189 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	376	64
FLG2	388698	broad.mit.edu	37	1	152323365	152323365	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152323365T>C	ENST00000388718.5	-	3	6969	c.6897A>G	c.(6895-6897)ggA>ggG	p.G2299G	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2299							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCCTGTCTGTCCATGAGTAG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													305	275	285			NA	NA	1		NA											NA				152323365		2203	4300	6503	SO:0001819	synonymous_variant			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520	388698	388698		EF-hand domain containing	33276	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_001014342	NM_001014342	NA	Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6897A>G	1.37:g.152323365T>C		NA	Q9H4U1	37	CCDS30861.1																																																																																			FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034018.5		-	ENST00000388718.5	Silent	SNP	1 : 152323365 - 152323365 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1678	290
LRFN2	57497	broad.mit.edu	37	6	40400136	40400136	+	Missense_Mutation	SNP	A	A	T	rs140321591		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:40400136A>T	ENST00000338305.6	-	2	1259	c.717T>A	c.(715-717)ttT>ttA	p.F239L		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	239						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGTTACCCCCAAAACTAAAGG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	37	35			NA	NA	6		NA											NA				40400136		2203	4300	6503	SO:0001583	missense			AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564	57497	57497		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	21226	protein-coding gene	gene with protein product	fibronectin type III, immunoglobulin and leucine rich repeat domains 2	612808	KIAA1246	KIAA1246, SALM1	NA	16495444, 16828986	Standard	XM_166372	NM_020737	NA	Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.717T>A	6.37:g.40400136A>T	ENSP00000345985:p.Phe239Leu	NA	A5PKU3|Q5SYP9	37	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	A	13.64	2.296729	0.40594	.	.	ENSG00000156564	ENST00000338305	T	0.01240	5.12	5.42	-6.7	0.01766	.	0.095815	0.64402	D	0.000001	T	0.00328	0.0010	N	0.10707	0.03	0.49915	D	0.999831	B	0.24317	0.101	B	0.27715	0.082	T	0.38887	-0.9640	10	0.14656	T	0.56	.	14.7045	0.69179	0.4575:0.0:0.5424:0.0	.	239	Q9ULH4	LRFN2_HUMAN	L	239	ENSP00000345985:F239L	ENSP00000345985:F239L	F	-	3	2	LRFN2	40508114	0.069000	0.21087	0.885000	0.34714	0.784000	0.44337	-0.274000	0.08537	-1.326000	0.02266	-0.371000	0.07208	TTT	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040488.1		-	ENST00000338305.6	Missense_Mutation	SNP	6 : 40400136 - 40400136 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	60
TRIM5	85363	broad.mit.edu	37	11	5699533	5699533	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5699533C>T	ENST00000396847.3	-	4	880	c.645G>A	c.(643-645)acG>acA	p.T215T	TRIM5_ENST00000380027.1_Silent_p.T215T|TRIM5_ENST00000380034.3_Silent_p.T215T|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396853.4_Silent_p.T215T|TRIM5_ENST00000396855.3_Silent_p.T215T|TRIM5_ENST00000305836.5_Silent_p.T215T			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	215					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TTTCAGAGTTCGTAAGGCTTT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	111	117			NA	NA	11		NA											NA				5699533		2201	4297	6498	SO:0001819	synonymous_variant			AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256	85363	85363		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	16276	protein-coding gene	gene with protein product	tripartite motif protein TRIM5, tripartite motif protein TRIM	608487	tripartite motif-containing 5		NA	11331580	Standard	NM_033034	NM_033034	NA	Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000396847.3:c.645G>A	11.37:g.5699533C>T		NA	A6NGQ1|A8WFA8|D3DQS8|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	37	CCDS31394.1	.	.	.	.	.	.	.	.	.	.	C	3.322	-0.138466	0.06669	.	.	ENSG00000132256	ENST00000438025	.	.	.	4.74	-0.944	0.10392	.	.	.	.	.	T	0.18467	0.0443	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23261	-1.0193	4	.	.	.	.	0.4029	0.00428	0.1969:0.202:0.1595:0.4417	.	.	.	.	Q	92	.	.	R	-	2	0	TRIM5	5656109	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.187000	0.00566	-0.007000	0.14345	-1.326000	0.01283	CGA	TRIM5-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000143363.2		-	ENST00000396847.3	Silent	SNP	11 : 5699533 - 5699533 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	36
HK1	3098	broad.mit.edu	37	10	71142486	71142486	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71142486G>A	ENST00000359426.6	+	10	1613	c.1509G>A	c.(1507-1509)acG>acA	p.T503T	HK1_ENST00000360289.2_Silent_p.T491T|HK1_ENST00000448642.2_Silent_p.T538T|HK1_ENST00000298649.3_Silent_p.T502T|HK1_ENST00000404387.2_Silent_p.T507T|HK1_ENST00000494253.1_3'UTR	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	503	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	p.T507T(1)|p.T502T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GGAAGCAGACGCACAACAATG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - coding silent(2)	endometrium(2)											101	75	84			NA	NA	10		NA											NA				71142486		2203	4300	6503	SO:0001819	synonymous_variant			M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	3098	3098	2.7.1.1		4922	protein-coding gene	gene with protein product		142600			NA		Standard	NM_000188	NM_033496	NA	Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.1509G>A	10.37:g.71142486G>A		NA	O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	37	CCDS7292.1																																																																																			HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048429.2		+	ENST00000359426.6	Silent	SNP	10 : 71142486 - 71142486 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	184	38
SRR	63826	broad.mit.edu	37	17	2227000	2227000	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2227000G>A	ENST00000344595.5	+	8	1174	c.856G>A	c.(856-858)Gct>Act	p.A286T	TSR1_ENST00000301364.5_3'UTR|SRR_ENST00000576848.1_Missense_Mutation_p.A60T	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	286					D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TGAACCTACAGCTGGTGTTGG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	105	111			NA	NA	17		NA											NA				2227000		2203	4300	6503	SO:0001583	missense			AF169974	CCDS11017.1	17p13	2007-01-18			ENSG00000167720	ENSG00000167720	63826	63826			14398	protein-coding gene	gene with protein product		606477			NA	17067558, 15953485, 15193426	Standard	NM_021947	NM_021947	NA	Approved	ILV1, ISO1	uc002fue.1	Q9GZT4	OTTHUMG00000090583	ENST00000344595.5:c.856G>A	17.37:g.2227000G>A	ENSP00000339435:p.Ala286Thr	NA	D3DTI5|Q6IA55	37	CCDS11017.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181429	0.78677	.	.	ENSG00000167720	ENST00000344595	D	0.96802	-4.13	5.52	5.52	0.82312	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.052350	0.85682	D	0.000000	D	0.97885	0.9305	M	0.77486	2.375	0.80722	D	1	D	0.67145	0.996	D	0.64687	0.928	D	0.98579	1.0649	10	0.87932	D	0	-3.5344	18.4444	0.90678	0.0:0.0:1.0:0.0	.	286	Q9GZT4	SRR_HUMAN	T	286	ENSP00000339435:A286T	ENSP00000339435:A286T	A	+	1	0	SRR	2173750	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.267000	0.72546	2.602000	0.87976	0.557000	0.71058	GCT	SRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207129.2		+	ENST00000344595.5	Missense_Mutation	SNP	17 : 2227000 - 2227000 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	47
TUBB3	10381	broad.mit.edu	37	16	89999002	89999002	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89999002G>A	ENST00000556922.1	+	3	1216	c.1122G>A	c.(1120-1122)gaG>gaA	p.E374E	TUBB3_ENST00000554444.1_5'UTR|TUBB3_ENST00000554336.1_Silent_p.E27E|TUBB3_ENST00000553967.1_Silent_p.E27E|TUBB3_ENST00000304984.5_5'UTR|TUBB3_ENST00000315491.7_Silent_p.E27E|TUBB3_ENST00000555576.1_Silent_p.E27E			Q13509	TBB3_HUMAN	tubulin, beta 3 class III	27					'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)		TCAGTGATGAGCATGGCATCG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	70	76			NA	NA	16		NA											NA				89999002		2198	4299	6497	SO:0001819	synonymous_variant			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.1122G>A	16.37:g.89999002G>A		NA	Q9BTZ0|Q9BW10	37																																																																																				TUBB3-001	NOVEL	basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000412002.1		+	ENST00000556922.1	Silent	SNP	16 : 89999002 - 89999002 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	81
ARID1B	57492	broad.mit.edu	37	6	157528312	157528312	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:157528312T>C	ENST00000346085.5	+	20	6038	c.6037T>C	c.(6037-6039)Tgg>Cgg	p.W2013R	ARID1B_ENST00000367148.1_Missense_Mutation_p.W2053R|ARID1B_ENST00000350026.5_Missense_Mutation_p.W2000R|ARID1B_ENST00000275248.4_Missense_Mutation_p.W1995R	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2000					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGATGAGTGGTGGTGGGACTG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	108	108			NA	NA	6		NA											NA				157528312		2203	4296	6499	SO:0001583	missense			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618	57492	57492		-	18040	protein-coding gene	gene with protein product		614556			NA		Standard	NM_020732	NM_017519	NA	Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000346085.5:c.6037T>C	6.37:g.157528312T>C	ENSP00000344546:p.Trp2013Arg	NA	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	37	CCDS55072.1	.	.	.	.	.	.	.	.	.	.	T	14.42	2.530980	0.45073	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	5.28	5.28	0.74379	.	0.055533	0.85682	D	0.000000	T	0.47040	0.1424	M	0.82630	2.6	0.80722	D	1	P;P;P	0.40931	0.733;0.687;0.687	B;B;B	0.42112	0.376;0.259;0.259	T	0.59705	-0.7404	10	0.87932	D	0	.	15.5073	0.75750	0.0:0.0:0.0:1.0	.	2000;2013;1995	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	R	2013;2000;2053;1995;1522	ENSP00000344546:W2013R;ENSP00000055163:W2000R;ENSP00000356116:W2053R;ENSP00000275248:W1995R;ENSP00000412835:W1522R	ENSP00000275248:W1995R	W	+	1	0	ARID1B	157570004	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.247000	0.72411	2.117000	0.64856	0.460000	0.39030	TGG	ARID1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042827.3		+	ENST00000346085.5	Missense_Mutation	SNP	6 : 157528312 - 157528312 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	422	70
RNF8	9025	broad.mit.edu	37	6	37336474	37336474	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:37336474C>T	ENST00000373479.4	+	3	648	c.455C>T	c.(454-456)aCt>aTt	p.T152I	RNF8_ENST00000469731.1_Missense_Mutation_p.T152I|RNF8_ENST00000479516.1_3'UTR	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	152					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GAATTGAGAACTAAAAGGAAA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	52	51			NA	NA	6		NA											NA				37336474		2203	4300	6503	SO:0001583	missense			AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130	9025	9025		RING-type (C3HC4) zinc fingers	10071	protein-coding gene	gene with protein product		611685	ring finger protein (C3HC4 type) 8, ring finger protein 8		NA	9734811, 9852682	Standard		NM_003958	NA	Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.455C>T	6.37:g.37336474C>T	ENSP00000362578:p.Thr152Ile	NA	A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	37	CCDS4834.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283628	0.80803	.	.	ENSG00000112130	ENST00000373479;ENST00000487950;ENST00000469731	D;T;T	0.84442	-1.85;0.64;0.77	5.85	5.85	0.93711	.	0.187543	0.47455	D	0.000222	D	0.84370	0.5457	M	0.69823	2.125	0.80722	D	1	P;P	0.50272	0.933;0.933	P;P	0.44860	0.462;0.462	D	0.86284	0.1669	10	0.62326	D	0.03	-4.7932	19.1613	0.93533	0.0:1.0:0.0:0.0	.	95;152	C9J858;O76064	.;RNF8_HUMAN	I	152;95;152	ENSP00000362578:T152I;ENSP00000417736:T95I;ENSP00000418879:T152I	ENSP00000362578:T152I	T	+	2	0	RNF8	37444452	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.212000	0.72188	2.768000	0.95171	0.655000	0.94253	ACT	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040403.2		+	ENST00000373479.4	Missense_Mutation	SNP	6 : 37336474 - 37336474 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	72
ARHGAP25	9938	broad.mit.edu	37	2	69002461	69002461	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:69002461G>T	ENST00000467265.1	+	2	488	c.170G>T	c.(169-171)aGg>aTg	p.R57M	ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.R50M|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.R31M|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.R57M|ARHGAP25_ENST00000295381.3_Missense_Mutation_p.R57M|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.R50M|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.R50M	NM_001166277.1	NP_001159749.1	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	57	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AAGAAGCAGAGGTCCATCGTG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	168	165			NA	NA	2		NA											NA				69002461		2203	4300	6503	SO:0001583	missense			D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219	9938	9938		Rho GTPase activating proteins, Pleckstrin homology (PH) domain containing	28951	protein-coding gene	gene with protein product		610587			NA	7584044	Standard	NM_014882	NM_001007231	NA	Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000467265.1:c.170G>T	2.37:g.69002461G>T	ENSP00000420583:p.Arg57Met	NA	A8K2Y1|Q8IXQ2	37	CCDS54363.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346716	0.82022	.	.	ENSG00000163219	ENST00000544262;ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533	T;T;T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63;2.63;2.63	5.58	5.58	0.84498	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.048467	0.64402	D	0.000001	T	0.41949	0.1181	M	0.88450	2.955	0.44562	D	0.997521	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;0.999;0.999	D;D;D;D;D;D;D	0.77004	0.989;0.97;0.983;0.983;0.983;0.963;0.989	T	0.41574	-0.9501	10	0.59425	D	0.04	.	11.5985	0.50988	0.0822:0.0:0.9178:0.0	.	57;31;57;50;50;50;57	E9PFQ7;B7Z8K7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331	.;.;.;.;.;.;RHG25_HUMAN	M	31;57;57;57;50;50;50;50;50	ENSP00000439917:R31M;ENSP00000295381:R57M;ENSP00000386911:R57M;ENSP00000420583:R57M;ENSP00000386863:R50M;ENSP00000386241:R50M;ENSP00000417139:R50M	ENSP00000295381:R57M	R	+	2	0	ARHGAP25	68855965	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.672000	0.83956	2.613000	0.88420	0.563000	0.77884	AGG	ARHGAP25-008	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353949.1		+	ENST00000467265.1	Missense_Mutation	SNP	2 : 69002461 - 69002461 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1058	282
GSDMB	55876	broad.mit.edu	37	17	38065249	38065249	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38065249C>T	ENST00000394175.2	-	4	846	c.623G>A	c.(622-624)cGa>cAa	p.R208Q	GSDMB_ENST00000309481.7_Missense_Mutation_p.R208Q|GSDMB_ENST00000394179.1_Missense_Mutation_p.R208Q|GSDMB_ENST00000360317.3_Missense_Mutation_p.R208Q|GSDMB_ENST00000520542.1_Missense_Mutation_p.R208Q|GSDMB_ENST00000418519.1_Missense_Mutation_p.R208Q	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN	gasdermin B	208						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						CTGCTTTACTCGATAGCTCAG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	170	174			NA	NA	17		NA											NA				38065249		2203	4300	6503	SO:0001583	missense			AF119884	CCDS11354.1, CCDS42313.1, CCDS54119.1, CCDS54120.1	17q21.2	2008-07-31	2008-07-31	2008-07-31	ENSG00000073605	ENSG00000073605	55876	55876			23690	protein-coding gene	gene with protein product		611221	gasdermin-like	GSDML	NA	12883658, 15010812, 17350798	Standard	NM_018530	NM_001042471	NA	Approved	PRO2521	uc010cwj.3	Q8TAX9	OTTHUMG00000133248	ENST00000394175.2:c.623G>A	17.37:g.38065249C>T	ENSP00000377729:p.Arg208Gln	NA	Q7Z377|Q8WY76|Q9NX71|Q9P163	37	CCDS11354.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.17|16.17	3.046504|3.046504	0.55110|0.55110	.|.	.|.	ENSG00000073605|ENSG00000073605	ENST00000420491|ENST00000360317;ENST00000394175;ENST00000309481;ENST00000520542;ENST00000418519;ENST00000394179	.|T;T;T;T;T;T	.|0.26518	.|1.73;1.73;1.73;1.73;1.73;1.73	3.13|3.13	1.11|1.11	0.20524|0.20524	.|.	.|0.184561	.|0.25045	.|N	.|0.033565	T|T	0.39784|0.39784	0.1091|0.1091	M|M	0.64404|0.64404	1.975|1.975	0.09310|0.09310	N|N	1|1	.|D;D;P;P	.|0.89917	.|1.0;1.0;0.772;0.772	.|D;D;B;B	.|0.91635	.|0.999;0.992;0.121;0.121	T|T	0.08638|0.08638	-1.0712|-1.0712	5|10	.|0.46703	.|T	.|0.11	.|.	5.3822|5.3822	0.16197|0.16197	0.0:0.7316:0.0:0.2684|0.0:0.7316:0.0:0.2684	.|.	.|208;208;208;208	.|B4DKK7;Q8TAX9-4;Q8TAX9-3;Q8TAX9-2	.|.;.;.;.	K|Q	140|208	.|ENSP00000353465:R208Q;ENSP00000377729:R208Q;ENSP00000312584:R208Q;ENSP00000430157:R208Q;ENSP00000415049:R208Q;ENSP00000377733:R208Q	.|ENSP00000312584:R208Q	E|R	-|-	1|2	0|0	GSDMB|GSDMB	35318775|35318775	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.042000|0.042000	0.13812|0.13812	-0.139000|-0.139000	0.10358|0.10358	0.347000|0.347000	0.23924|0.23924	0.609000|0.609000	0.83330|0.83330	GAG|CGA	GSDMB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256993.1		-	ENST00000394175.2	Missense_Mutation	SNP	17 : 38065249 - 38065249 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1140	221
SEC63	11231	broad.mit.edu	37	6	108227665	108227665	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108227665C>T	ENST00000369002.4	-	10	1127	c.948G>A	c.(946-948)gaG>gaA	p.E316E		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	316	SEC63 1.				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		CTTCAAGGGTCTCAGGAATTT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	115	113			NA	NA	6		NA											NA				108227665		2203	4300	6503	SO:0001819	synonymous_variant			BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796	11231	11231		Heat shock proteins / DNAJ (HSP40)	21082	protein-coding gene	gene with protein product		608648	SEC63-like (S. cerevisiae)		NA	10219736, 10543453	Standard	NM_007214	NM_007214	NA	Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.948G>A	6.37:g.108227665C>T		NA	O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	37	CCDS5061.1																																																																																			SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041705.4		-	ENST00000369002.4	Silent	SNP	6 : 108227665 - 108227665 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	635	108
ZNF583	147949	broad.mit.edu	37	19	56935478	56935478	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56935478G>T	ENST00000333201.9	+	5	1661	c.1451G>T	c.(1450-1452)aGa>aTa	p.R484I	ZNF583_ENST00000585612.1_Intron|ZNF583_ENST00000291598.7_Missense_Mutation_p.R484I	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		CAACATCAGAGAATTCATACT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	94	92			NA	NA	19		NA											NA				56935478		2203	4300	6503	SO:0001583	missense			AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440	147949	147949		Zinc fingers, C2H2-type, -	26427	protein-coding gene	gene with protein product					NA		Standard	NM_152478	NM_152478	NA	Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1451G>T	19.37:g.56935478G>T	ENSP00000388502:p.Arg484Ile	NA	O14850|Q2NKK3	37	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723444	0.68959	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.24908	1.83;1.83	4.63	4.63	0.57726	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45867	D	0.000332	T	0.51719	0.1691	M	0.78223	2.4	0.54753	D	0.999981	D	0.71674	0.998	D	0.71414	0.973	T	0.53436	-0.8439	9	.	.	.	.	16.7887	0.85582	0.0:0.0:1.0:0.0	.	484	Q96ND8	ZN583_HUMAN	I	484	ENSP00000291598:R484I;ENSP00000388502:R484I	.	R	+	2	0	ZNF583	61627290	0.000000	0.05858	0.008000	0.14137	0.993000	0.82548	-0.421000	0.07053	2.571000	0.86741	0.655000	0.94253	AGA	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401453.1		+	ENST00000333201.9	Missense_Mutation	SNP	19 : 56935478 - 56935478 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	533	101
APOB	338	broad.mit.edu	37	2	21224719	21224719	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21224719A>C	ENST00000233242.1	-	29	13702	c.13575T>G	c.(13573-13575)atT>atG	p.I4525M		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4525					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGTAGTTTTGAATGGACAGGT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	146	145			NA	NA	2		NA											NA				21224719		2203	4300	6503	SO:0001583	missense			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674	338	338		Apolipoproteins	603	protein-coding gene	gene with protein product		107730	apolipoprotein B (including Ag(x) antigen)		NA		Standard		NM_000384	NA	Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.13575T>G	2.37:g.21224719A>C	ENSP00000233242:p.Ile4525Met	NA	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.384456	0.61845	.	.	ENSG00000084674	ENST00000233242	T	0.37058	1.22	5.68	2.93	0.34026	.	0.218872	0.31884	N	0.006919	T	0.28797	0.0714	L	0.60455	1.87	0.80722	D	1	P	0.44429	0.835	B	0.40864	0.342	T	0.18241	-1.0343	10	0.72032	D	0.01	.	1.1843	0.01852	0.5206:0.1313:0.1521:0.1959	.	4525	P04114	APOB_HUMAN	M	4525	ENSP00000233242:I4525M	ENSP00000233242:I4525M	I	-	3	3	APOB	21078224	0.994000	0.37717	1.000000	0.80357	0.938000	0.57974	0.387000	0.20718	0.957000	0.37930	0.482000	0.46254	ATT	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207571.1		-	ENST00000233242.1	Missense_Mutation	SNP	2 : 21224719 - 21224719 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	806	27
DGKD	8527	broad.mit.edu	37	2	234343475	234343475	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234343475G>A	ENST00000264057.2	+	5	526	c.514G>A	c.(514-516)Gcg>Acg	p.A172T	DGKD_ENST00000409813.3_Missense_Mutation_p.A128T	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	172					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CTGTTCCCACGCGAGGCCGAC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													190	165	174			NA	NA	2		NA											NA				234343475		2203	4300	6503	SO:0001583	missense			D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044	8527	8527		Sterile alpha motif (SAM) domain containing, Pleckstrin homology (PH) domain containing	2851	protein-coding gene	gene with protein product	diglyceride kinase	601826	diacylglycerol kinase, delta (130kD)		NA	8626538, 12810723	Standard	NM_003648	NM_003648	NA	Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.514G>A	2.37:g.234343475G>A	ENSP00000264057:p.Ala172Thr	NA	Q14158|Q6PK55|Q8NG53	37	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017608	0.93404	.	.	ENSG00000077044	ENST00000264057;ENST00000427930;ENST00000447484;ENST00000409813	D;D;T;D	0.92805	-3.11;-3.11;1.52;-3.11	4.92	4.92	0.64577	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.075139	0.53938	D	0.000043	D	0.92215	0.7531	N	0.12961	0.28	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;1.0;0.878	D;D;D;B	0.83275	0.969;0.989;0.996;0.288	D	0.92313	0.5859	10	0.39692	T	0.17	.	18.7132	0.91666	0.0:0.0:1.0:0.0	.	56;108;128;172	Q53SE4;C9JY42;Q16760-2;Q16760	.;.;.;DGKD_HUMAN	T	172;108;142;128	ENSP00000264057:A172T;ENSP00000407938:A108T;ENSP00000395530:A142T;ENSP00000386455:A128T	ENSP00000264057:A172T	A	+	1	0	DGKD	234008214	1.000000	0.71417	0.915000	0.36163	0.909000	0.53808	9.125000	0.94402	2.724000	0.93272	0.563000	0.77884	GCG	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257072.2		+	ENST00000264057.2	Missense_Mutation	SNP	2 : 234343475 - 234343475 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	958	262
NPY	4852	broad.mit.edu	37	7	24325010	24325010	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24325010G>A	ENST00000407573.1	+	3	441	c.151G>A	c.(151-153)Gcg>Acg	p.A51T	NPY_ENST00000405982.1_Missense_Mutation_p.A51T|NPY_ENST00000242152.2_Missense_Mutation_p.A51T			P01303	NPY_HUMAN	neuropeptide Y	51					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						ATACTACTCGGCGCTGCGACA	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	56	63			NA	NA	7		NA											NA				24325010		2203	4300	6503	SO:0001583	missense			K01911	CCDS5387.1	7p15.3	2013-02-26			ENSG00000122585	ENSG00000122585	4852	4852		Endogenous ligands	7955	protein-coding gene	gene with protein product	prepro-neuropeptide Y	162640			NA		Standard	NM_000905	NM_000905	NA	Approved	PYY4	uc003sww.2	P01303	OTTHUMG00000022973	ENST00000407573.1:c.151G>A	7.37:g.24325010G>A	ENSP00000384364:p.Ala51Thr	NA		37	CCDS5387.1	.	.	.	.	.	.	.	.	.	.	G	37	6.062781	0.97246	.	.	ENSG00000122585	ENST00000242152;ENST00000407573;ENST00000405982	T;T;T	0.52983	0.64;0.64;0.64	5.86	5.86	0.93980	Pancreatic hormone-like, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.72700	0.3493	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.74575	-0.3620	9	0.72032	D	0.01	-10.8804	20.1986	0.98248	0.0:0.0:1.0:0.0	.	51	P01303	NPY_HUMAN	T	51	ENSP00000242152:A51T;ENSP00000384364:A51T;ENSP00000385282:A51T	ENSP00000242152:A51T	A	+	1	0	NPY	24291535	1.000000	0.71417	0.974000	0.42286	0.994000	0.84299	9.824000	0.99380	2.781000	0.95711	0.650000	0.86243	GCG	NPY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326748.1		+	ENST00000407573.1	Missense_Mutation	SNP	7 : 24325010 - 24325010 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	246	45
SLC25A26	115286	broad.mit.edu	37	3	66313765	66313765	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:66313765G>A	ENST00000413054.1	+	3	225	c.151G>A	c.(151-153)Ggg>Agg	p.G51R	SLC25A26_ENST00000536651.1_3'UTR|SLC25A26_ENST00000484768.1_3'UTR|SLC25A26_ENST00000336733.6_Missense_Mutation_p.G51R|SLC25A26_ENST00000354883.6_Missense_Mutation_p.G139R			Q70HW3	SAMC_HUMAN	solute carrier family 25 (S-adenosylmethionine carrier), member 26	0						integral to membrane|mitochondrial inner membrane|nucleus	S-adenosylmethionine transmembrane transporter activity			endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)|stomach(2)|urinary_tract(1)	8		Lung NSC(201;0.00774)		BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648)		GGGTATCCAAGGGTTGTATCG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	116	118			NA	NA	3		NA											NA				66313765		2203	4300	6503	SO:0001583	missense			AJ580932	CCDS54604.1, CCDS2905.2	3p14.2	2013-05-22	2012-03-29		ENSG00000144741	ENSG00000144741	115286	115286		Solute carriers	20661	protein-coding gene	gene with protein product		611037	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 26		NA	14674884	Standard	NM_173471	NM_173471	NA	Approved		uc011bfq.2	Q70HW3	OTTHUMG00000149917	ENST00000413054.1:c.151G>A	3.37:g.66313765G>A	ENSP00000415304:p.Gly51Arg	NA	A8K758|B3KRZ7|Q7Z786|Q96E68	37		.	.	.	.	.	.	.	.	.	.	G	20.8	4.046055	0.75846	.	.	ENSG00000144741	ENST00000354883;ENST00000336733	D;D	0.83163	-1.69;-1.69	5.54	5.54	0.83059	Mitochondrial carrier domain (2);	0.103920	0.64402	D	0.000003	D	0.91650	0.7361	M	0.88031	2.925	0.80722	D	1	P;P	0.49253	0.84;0.921	P;P	0.56960	0.622;0.81	D	0.92796	0.6252	10	0.87932	D	0	-15.2225	19.4905	0.95048	0.0:0.0:1.0:0.0	.	139;139	F8WAB8;Q70HW3	.;SAMC_HUMAN	R	139;51	ENSP00000346955:G139R;ENSP00000336801:G51R	ENSP00000336801:G51R	G	+	1	0	SLC25A26	66396455	1.000000	0.71417	0.998000	0.56505	0.366000	0.29705	8.689000	0.91265	2.601000	0.87937	0.585000	0.79938	GGG	SLC25A26-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000313895.2		+	ENST00000413054.1	Missense_Mutation	SNP	3 : 66313765 - 66313765 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	106	20
CRHR2	1395	broad.mit.edu	37	7	30693138	30693138	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30693138A>G	ENST00000471646.1	-	12	1591	c.1174T>C	c.(1174-1176)Tcc>Ccc	p.S392P	CRHR2_ENST00000348438.4_Missense_Mutation_p.S419P|CRHR2_ENST00000506074.2_3'UTR|CRHR2_ENST00000341843.4_Missense_Mutation_p.S378P	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	392					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTAGGGATGGACATGGCCCGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	153	159			NA	NA	7		NA											NA				30693138		2203	4300	6503	SO:0001583	missense				CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113	1395	1395		GPCR / Class B : Corticotropin-releasing factor receptors	2358	protein-coding gene	gene with protein product		602034			NA	8536644	Standard		NM_001883	NA	Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.1174T>C	7.37:g.30693138A>G	ENSP00000418722:p.Ser392Pro	NA	O43461|Q4QRJ4|Q99431	37	CCDS5429.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.725952	0.89298	.	.	ENSG00000106113	ENST00000471646;ENST00000348438;ENST00000341843	T;T;T	0.46819	0.86;0.99;0.87	4.45	4.45	0.53987	.	0.057019	0.64402	D	0.000001	T	0.68256	0.2981	M	0.80746	2.51	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.987;0.996;0.994;0.987	T	0.72760	-0.4196	10	0.66056	D	0.02	.	12.0233	0.53356	1.0:0.0:0.0:0.0	.	391;419;378;392	B3SXT0;Q13324-2;Q13324-3;Q13324	.;.;.;CRFR2_HUMAN	P	392;419;378	ENSP00000418722:S392P;ENSP00000340943:S419P;ENSP00000344304:S378P	ENSP00000344304:S378P	S	-	1	0	CRHR2	30659663	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.300000	0.96151	1.793000	0.52555	0.378000	0.23410	TCC	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250448.3		-	ENST00000471646.1	Missense_Mutation	SNP	7 : 30693138 - 30693138 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	840	163
SHANK2	22941	broad.mit.edu	37	11	70332710	70332710	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70332710A>C	ENST00000409161.1	-	9	1899	c.1900T>G	c.(1900-1902)Tct>Gct	p.S634A	SHANK2_ENST00000338508.4_Missense_Mutation_p.S1231A|SHANK2_ENST00000449833.2_Missense_Mutation_p.S635A|SHANK2_ENST00000423696.2_Missense_Mutation_p.S851A			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	851					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCCTGTTGAGACTCCTTCATG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	67	64			NA	NA	11		NA											NA				70332710		2200	4294	6494	SO:0001583	missense			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105	22941	22941		Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	14295	protein-coding gene	gene with protein product		603290	cortactin binding protein 1	CORTBP1	NA	10506216	Standard	NM_012309	XM_005277930	NA	Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000409161.1:c.1900T>G	11.37:g.70332710A>C	ENSP00000386491:p.Ser634Ala	NA	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	37		.	.	.	.	.	.	.	.	.	.	A	10.43	1.347053	0.24426	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	4.88	0.622	0.17648	.	0.321940	0.33253	N	0.005116	T	0.33469	0.0864	M	0.65975	2.015	0.80722	D	1	B;B;B	0.32188	0.245;0.359;0.009	B;B;B	0.36845	0.08;0.234;0.015	T	0.08249	-1.0731	10	0.29301	T	0.29	.	0.4194	0.00453	0.2304:0.3182:0.1853:0.2661	.	851;1230;635	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	A	635;634;509;1231;851;869;854	ENSP00000399423:S635A;ENSP00000386491:S634A;ENSP00000402944:S509A;ENSP00000345193:S1231A;ENSP00000394536:S851A;ENSP00000294018:S854A	ENSP00000294018:S854A	S	-	1	0	SHANK2	70010358	1.000000	0.71417	0.976000	0.42696	0.691000	0.40173	2.898000	0.48672	0.172000	0.19760	0.459000	0.35465	TCT	SHANK2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000259184.1		-	ENST00000409161.1	Missense_Mutation	SNP	11 : 70332710 - 70332710 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	508	75
SLCO6A1	133482	broad.mit.edu	37	5	101834238	101834238	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:101834238T>C	ENST00000506729.1	-	1	482	c.311A>G	c.(310-312)aAc>aGc	p.N104S	SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.N104S|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.N104S|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.N104S|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.N104S			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	104	Cys-rich.					integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GCAGCGAATGTTATTGCAACA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	90	91			NA	NA	5		NA											NA				101834238		2203	4300	6503	SO:0001583	missense			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359	133482	133482		Solute carriers	23613	protein-coding gene	gene with protein product	cancer/testis antigen 48	613365			NA		Standard	NM_173488	XM_005271874	NA	Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.311A>G	5.37:g.101834238T>C	ENSP00000421339:p.Asn104Ser	NA	A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	37	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	T	12.64	1.999617	0.35320	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.46819	0.93;0.93;0.95;0.86;0.86	3.52	-0.11	0.13580	.	0.406962	0.21428	N	0.074706	T	0.47911	0.1471	L	0.32530	0.975	0.09310	N	1	D;P;D	0.65815	0.995;0.799;0.968	D;B;P	0.66716	0.946;0.12;0.507	T	0.32134	-0.9918	10	0.48119	T	0.1	.	5.7854	0.18331	0.0:0.3383:0.0:0.6617	.	104;104;104	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	S	104	ENSP00000421339:N104S;ENSP00000369135:N104S;ENSP00000373671:N104S;ENSP00000421990:N104S;ENSP00000369138:N104S	ENSP00000369135:N104S	N	-	2	0	SLCO6A1	101862137	0.001000	0.12720	0.010000	0.14722	0.051000	0.14879	-0.108000	0.10857	-0.017000	0.14103	0.397000	0.26171	AAC	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370335.1		-	ENST00000506729.1	Missense_Mutation	SNP	5 : 101834238 - 101834238 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	537	92
ARFGEF1	10565	broad.mit.edu	37	8	68123756	68123756	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68123756G>T	ENST00000262215.3	-	34	5170	c.4781C>A	c.(4780-4782)gCt>gAt	p.A1594D	ARFGEF1_ENST00000518230.1_Missense_Mutation_p.A432D|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.A1048D	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1594					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTCATTAACAGCAGACGCAGA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	56	56			NA	NA	8		NA											NA				68123756		2203	4300	6503	SO:0001583	missense			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777	10565	10565			15772	protein-coding gene	gene with protein product		604141			NA	10212200, 8917509	Standard	NM_006421	NM_006421	NA	Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4781C>A	8.37:g.68123756G>T	ENSP00000262215:p.Ala1594Asp	NA	Q9NV46|Q9UFV2|Q9UNL0	37	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	1.780	-0.482276	0.04383	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230	T;T;T	0.43688	2.94;2.11;0.94	5.29	4.18	0.49190	.	0.940533	0.08909	N	0.876178	T	0.18593	0.0446	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.14438	0.01;0.004;0.004	B;B;B	0.15484	0.013;0.004;0.004	T	0.20405	-1.0276	10	0.13108	T	0.6	.	6.2718	0.20959	0.1256:0.0:0.6963:0.1781	.	1594;1072;1048	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	D	1048;1594;432	ENSP00000428429:A1048D;ENSP00000262215:A1594D;ENSP00000430891:A432D	ENSP00000262215:A1594D	A	-	2	0	ARFGEF1	68286310	0.378000	0.25114	0.985000	0.45067	0.105000	0.19272	1.906000	0.39887	2.631000	0.89168	0.655000	0.94253	GCT	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379441.4		-	ENST00000262215.3	Missense_Mutation	SNP	8 : 68123756 - 68123756 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	314	20
OR52L1	338751	broad.mit.edu	37	11	6007343	6007343	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6007343C>T	ENST00000332249.4	-	1	872	c.818G>A	c.(817-819)gGa>gAa	p.G273E		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGAAAATTCCAGGGACATA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(121;653 1666 10547 22796 51255)							NA				0													121	122	122			NA	NA	11		NA											NA				6007343		2064	4240	6304	SO:0001583	missense			AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313	338751	338751		GPCR / Class A : Olfactory receptors	14785	protein-coding gene	gene with protein product					NA		Standard	NM_001005173	NM_001005173	NA	Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.818G>A	11.37:g.6007343C>T	ENSP00000330338:p.Gly273Glu	NA	B2RPA6|Q6IFK9	37	CCDS44529.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.832108	0.32421	.	.	ENSG00000183313	ENST00000332249	T	0.37058	1.22	4.1	3.1	0.35709	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42821	D	0.000651	T	0.55784	0.1942	M	0.71920	2.185	0.27952	N	0.937101	D	0.89917	1.0	D	0.97110	1.0	T	0.48736	-0.9009	10	0.87932	D	0	.	11.3353	0.49500	0.0:0.6675:0.3325:0.0	.	273	Q8NGH7	O52L1_HUMAN	E	273	ENSP00000330338:G273E	ENSP00000330338:G273E	G	-	2	0	OR52L1	5963919	0.000000	0.05858	1.000000	0.80357	0.310000	0.27922	-1.994000	0.01474	1.987000	0.57996	0.313000	0.20887	GGA	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383754.1		-	ENST00000332249.4	Missense_Mutation	SNP	11 : 6007343 - 6007343 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	316	50
SUDS3	64426	broad.mit.edu	37	12	118829014	118829014	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:118829014G>T	ENST00000543473.1	+	6	756	c.444G>T	c.(442-444)gaG>gaT	p.E148D	SUDS3_ENST00000397564.2_Missense_Mutation_p.E149D	NM_022491.2	NP_071936.2	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3 homolog (S. cerevisiae)	148					chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex	histone deacetylase binding			breast(1)|lung(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGCTGAAAGAGAACCTGATTG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	96	95			NA	NA	12		NA											NA				118829014		1837	4083	5920	SO:0001583	missense			AK023801	CCDS44993.1	12q24.23	2006-02-13	2006-02-13		ENSG00000111707	ENSG00000111707	64426	64426			29545	protein-coding gene	gene with protein product	sin3A-associated protein, 45kDa	608250	suppressor of defective silencing 3 homolog (SDS3, S. cerevisiae)		NA	11909966	Standard	NM_022491	NM_022491	NA	Approved	SDS3, FLJ00052, SAP45	uc001twz.3	Q9H7L9	OTTHUMG00000168884	ENST00000543473.1:c.444G>T	12.37:g.118829014G>T	ENSP00000443988:p.Glu148Asp	NA	Q4KMQ5|Q8N6H0|Q9H8D2	37	CCDS44993.1	.	.	.	.	.	.	.	.	.	.	G	6.662	0.490703	0.12702	.	.	ENSG00000111707	ENST00000543473;ENST00000397564	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.52306	0.1726	L	0.28608	0.87	0.58432	D	0.999995	D	0.57257	0.979	D	0.74023	0.982	T	0.48570	-0.9024	9	0.11794	T	0.64	-18.0549	6.5366	0.22357	0.2101:0.0:0.7899:0.0	.	148	Q9H7L9	SDS3_HUMAN	D	148;149	.	ENSP00000380695:E149D	E	+	3	2	SUDS3	117313397	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.830000	0.48136	2.677000	0.91161	0.655000	0.94253	GAG	SUDS3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401504.1		+	ENST00000543473.1	Missense_Mutation	SNP	12 : 118829014 - 118829014 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	406	88
TNFRSF19	55504	broad.mit.edu	37	13	24190110	24190110	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24190110C>T	ENST00000382263.3	+	4	469	c.285C>T	c.(283-285)tgC>tgT	p.C95C	TNFRSF19_ENST00000382258.4_Silent_p.C95C|TNFRSF19_ENST00000248484.4_Silent_p.C95C|TNFRSF19_ENST00000403372.2_5'UTR	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	95					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)		GTCTGGACTGCGCAGTGGTGA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	99	102			NA	NA	13		NA											NA				24190110		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.285C>T	13.37:g.24190110C>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 : 24190110 - 24190110 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	344	49
RNF123	63891	broad.mit.edu	37	3	49753080	49753080	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49753080G>T	ENST00000327697.6	+	32	3227	c.3083G>T	c.(3082-3084)aGc>aTc	p.S1028I	RNF123_ENST00000433785.1_Missense_Mutation_p.S140I	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1028						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GTGGCACCCAGCTTCCTCAAC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	81	85			NA	NA	3		NA											NA				49753080		2203	4300	6503	SO:0001583	missense			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068	63891	63891		RING-type (C3HC4) zinc fingers	21148	protein-coding gene	gene with protein product		614472			NA		Standard	NM_022064	NM_022064	NA	Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.3083G>T	3.37:g.49753080G>T	ENSP00000328287:p.Ser1028Ile	NA	A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	37	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299999	0.81136	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000433785	T;T	0.63744	-0.06;-0.06	5.69	5.69	0.88448	.	0.082938	0.85682	D	0.000000	T	0.78342	0.4268	M	0.68952	2.095	0.54753	D	0.999988	D	0.71674	0.998	D	0.75484	0.986	T	0.76966	-0.2763	10	0.45353	T	0.12	-32.0057	18.7944	0.91988	0.0:0.0:1.0:0.0	.	1028	Q5XPI4	RN123_HUMAN	I	1028;1028;140	ENSP00000328287:S1028I;ENSP00000416156:S140I	ENSP00000328287:S1028I	S	+	2	0	RNF123	49728084	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.996000	0.76263	2.679000	0.91253	0.655000	0.94253	AGC	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346475.2		+	ENST00000327697.6	Missense_Mutation	SNP	3 : 49753080 - 49753080 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	284	51
OR6Y1	391112	broad.mit.edu	37	1	158517417	158517417	+	Missense_Mutation	SNP	G	G	A	rs148583112		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158517417G>A	ENST00000302617.3	-	1	478	c.479C>T	c.(478-480)aCt>aTt	p.T160I		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AATCATGGCAGTCATGAGTCC	0.468		NA											G	1	5e-04	NA	NA	2184	NA	1	,	,	NA	2e-04	0.0013	NA	NA	5e-04	1	EXOME	NA	NA	7e-04	SNP								NA				0								G	ILE/THR	0,4406		0,0,2203	52	46	48		479	3.4	0.6	1	dbSNP_134	48	4,8596	3.7+/-12.6	0,4,4296	yes	missense	OR6Y1	NM_001005189.1	89	0,4,6499	AA,AG,GG	NA	0.0465,0.0,0.0308	probably-damaging	160/326	158517417	4,13002	2203	4300	6503	SO:0001583	missense			BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532	391112	391112		GPCR / Class A : Olfactory receptors	14823	protein-coding gene	gene with protein product				OR6Y2	NA		Standard	NM_001005189	NM_001005189	NA	Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.479C>T	1.37:g.158517417G>A	ENSP00000304807:p.Thr160Ile	NA	Q6IFS0	37	CCDS30899.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.94	1.787184	0.31593	0.0	4.65E-4	ENSG00000197532	ENST00000302617	T	0.34667	1.35	5.34	3.43	0.39272	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43416	D	0.000574	T	0.13200	0.0320	N	0.02296	-0.605	0.22684	N	0.998854	D	0.71674	0.998	D	0.66847	0.947	T	0.07309	-1.0779	10	0.26408	T	0.33	.	7.1526	0.25618	0.1503:0.1458:0.7039:0.0	.	160	Q8NGX8	OR6Y1_HUMAN	I	160	ENSP00000304807:T160I	ENSP00000304807:T160I	T	-	2	0	OR6Y1	156784041	0.000000	0.05858	0.554000	0.28268	0.998000	0.95712	-0.056000	0.11787	1.466000	0.48025	0.655000	0.94253	ACT	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051844.1		-	ENST00000302617.3	Missense_Mutation	SNP	1 : 158517417 - 158517417 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	212	33
PRRC2B	84726	broad.mit.edu	37	9	134366949	134366949	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134366949C>T	ENST00000405995.1	+	28	4507	c.4281C>T	c.(4279-4281)gtC>gtT	p.V1427V	PRRC2B_ENST00000372249.1_Silent_p.V218V|PRRC2B_ENST00000465931.1_3'UTR|PRRC2B_ENST00000458550.1_Silent_p.V1427V|PRRC2B_ENST00000357304.4_Silent_p.V2121V			Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	2121							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AGCCGCCAGTCCTGAACACCA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	15	14			NA	NA	9		NA											NA				134366949		1876	4076	5952	SO:0001819	synonymous_variant			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723	84726	84726			28121	protein-coding gene	gene with protein product			KIAA0515, HLA-B associated transcript 2-like, HLA-B associated transcript 2-like 1	KIAA0515, BAT2L, BAT2L1	NA	9628581	Standard		NM_013318	NA	Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000405995.1:c.4281C>T	9.37:g.134366949C>T		NA	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	37		.	.	.	.	.	.	.	.	.	.	C	9.707	1.155979	0.21454	.	.	ENSG00000130723	ENST00000320547	.	.	.	5.17	4.21	0.49690	.	.	.	.	.	T	0.46367	0.1389	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45542	-0.9254	4	.	.	.	-32.1241	3.1442	0.06466	0.1838:0.5418:0.1774:0.097	.	.	.	.	S	128	.	.	P	+	1	0	PRRC2B	133356770	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.842000	0.27627	2.410000	0.81850	0.555000	0.69702	CCT	PRRC2B-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000054751.1		+	ENST00000405995.1	Silent	SNP	9 : 134366949 - 134366949 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	152	22
RAPGEF6	51735	broad.mit.edu	37	5	130840413	130840413	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130840413G>A	ENST00000507093.1	-	11	1341	c.1160C>T	c.(1159-1161)aCc>aTc	p.T387I	RAPGEF6_ENST00000307984.5_Missense_Mutation_p.T387I|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.T387I|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.T387I|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.T102I|RAPGEF6_ENST00000509018.1_Missense_Mutation_p.T387I|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.T437I|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.T387I	NM_001164388.1	NP_001157860.1	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	387					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AACTTTATGGGTATTTTTTTC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(168;435 1955 13113 13877 23213)							NA				0													155	143	147			NA	NA	5		NA											NA				130840413		2203	4300	6503	SO:0001583	missense			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987	51735	51735			20655	protein-coding gene	gene with protein product		610499	PDZ domain containing guanine nucleotide exchange factor (GEF) 2	PDZGEF2	NA	11524421, 12095257	Standard	NM_016340	NM_016340	NA	Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000507093.1:c.1160C>T	5.37:g.130840413G>A	ENSP00000426081:p.Thr387Ile	NA	Q8NI21|Q8TEU6|Q96PC1	37	CCDS54899.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381312	0.42207	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.0	5.0	0.66597	Ras guanine nucleotide exchange factor, domain (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.30355	0.0762	L	0.31664	0.95	0.80722	D	1	B;B;B;B;B;P;B	0.36378	0.415;0.059;0.194;0.123;0.435;0.55;0.063	B;B;B;B;B;B;B	0.41988	0.081;0.031;0.143;0.1;0.157;0.372;0.1	T	0.03981	-1.0987	10	0.28530	T	0.3	.	18.2856	0.90113	0.0:0.0:1.0:0.0	.	387;387;387;102;437;387;387	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	I	387;387;387;387;387;102;387;387;437	ENSP00000421684:T387I;ENSP00000309298:T387I;ENSP00000426081:T387I;ENSP00000296859:T387I;ENSP00000426910:T102I;ENSP00000311419:T387I;ENSP00000425389:T387I;ENSP00000426948:T437I	ENSP00000426948:T437I	T	-	2	0	RAPGEF6;FNIP1	130868312	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.785000	0.68998	2.324000	0.78689	0.313000	0.20887	ACC	RAPGEF6-003	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370061.1		-	ENST00000507093.1	Missense_Mutation	SNP	5 : 130840413 - 130840413 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	412	93
GAS6	2621	broad.mit.edu	37	13	114531617	114531617	+	Missense_Mutation	SNP	G	G	A	rs146140804	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114531617G>A	ENST00000327773.6	-	11	1357	c.1211C>T	c.(1210-1212)gCg>gTg	p.A404V	GAS6_ENST00000357389.3_Missense_Mutation_p.A447V|GAS6_ENST00000418959.3_Missense_Mutation_p.A105V|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000450766.1_Missense_Mutation_p.A131V|GAS6_ENST00000355761.4_Missense_Mutation_p.A350V	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	447	Laminin G-like 1.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CCCGGCCACCGCGATTTTCAT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0									VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	127	115	119		1211,392,314	4.1	0.5	13	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	GAS6	NM_000820.2,NM_001143945.1,NM_001143946.1	64,64,64	0,2,6501	AA,AG,GG	NA	0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging	404/679,131/406,105/380	114531617	2,13004	2203	4300	6503	SO:0001583	missense				CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087	2621	2621			4168	protein-coding gene	gene with protein product	AXL stimulatory factor	600441		AXLLG	NA	8336730	Standard	NM_000820	NM_000820	NA	Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.1211C>T	13.37:g.114531617G>A	ENSP00000331831:p.Ala404Val	NA	Q6IMN1|Q7Z7N3	37	CCDS45072.1	.	.	.	.	.	.	.	.	.	.	g	12.19	1.862531	0.32884	2.27E-4	1.16E-4	ENSG00000183087	ENST00000357389;ENST00000355761;ENST00000450766;ENST00000418959;ENST00000327773	T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98	4.95	4.1	0.47936	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	.	.	.	.	T	0.72630	0.3484	M	0.76838	2.35	0.58432	D	0.999999	P;P;D	0.63046	0.592;0.821;0.992	B;B;B	0.40565	0.041;0.187;0.333	T	0.74542	-0.3631	9	0.39692	T	0.17	-30.638	13.2677	0.60144	0.0772:0.0:0.9228:0.0	.	447;131;404	Q14393;B3KVL4;Q14393-2	GAS6_HUMAN;.;.	V	447;350;131;105;404	ENSP00000349962:A447V;ENSP00000348003:A350V;ENSP00000416498:A131V;ENSP00000400117:A105V;ENSP00000331831:A404V	ENSP00000331831:A404V	A	-	2	0	GAS6	113582326	1.000000	0.71417	0.483000	0.27378	0.588000	0.36517	6.843000	0.75384	1.076000	0.40961	0.550000	0.68814	GCG	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045946.2		-	ENST00000327773.6	Missense_Mutation	SNP	13 : 114531617 - 114531617 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	443	84
DHX9	1660	broad.mit.edu	37	1	182844012	182844012	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182844012C>T	ENST00000367549.3	+	16	1848	c.1738C>T	c.(1738-1740)Cag>Tag	p.Q580*		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	580					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AGACTGCATTCAGATGACCCA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(69;210 1162 3697 13559 39565)							NA				0													128	132	131			NA	NA	1		NA											NA				182844012		1876	4109	5985	SO:0001587	stop_gained			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829	1660	1660		DEAH-boxes	2750	protein-coding gene	gene with protein product	NDH II, RNA helicase A	603115	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin), DEAH (Asp-Glu-Ala-His) box polypeptide 9	LKP, DDX9	NA	8344961, 9111062	Standard	NM_030588	NM_001357	NA	Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.1738C>T	1.37:g.182844012C>T	ENSP00000356520:p.Gln580*	NA	B2RNV4|Q5VY62|Q6PD69|Q99556	37	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	C	39	7.829393	0.98513	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.2865	0.94077	0.0:1.0:0.0:0.0	.	.	.	.	X	580	.	ENSP00000356520:Q580X	Q	+	1	0	DHX9	181110635	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.048000	0.76606	2.716000	0.92895	0.650000	0.86243	CAG	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085522.2		+	ENST00000367549.3	Nonsense_Mutation	SNP	1 : 182844012 - 182844012 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	652	165
RIPK4	54101	broad.mit.edu	37	21	43161903	43161903	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43161903G>A	ENST00000332512.3	-	8	1514	c.1450C>T	c.(1450-1452)Cgg>Tgg	p.R484W	RIPK4_ENST00000544709.1_Missense_Mutation_p.R421W|RIPK4_ENST00000352483.2_Missense_Mutation_p.R532W|RIPK4_ENST00000542057.1_Missense_Mutation_p.R421W	NM_020639.2	NP_065690.2	Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	484						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACGACACCCCGCACCCTCCTC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	84	89			NA	NA	21		NA											NA				43161903		2203	4300	6503	SO:0001583	missense			AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421	54101	54101		Ankyrin repeat domain containing	496	protein-coding gene	gene with protein product	protein kinase C-associated kinase, PKC-delta-interacting protein kinase	605706	ankyrin repeat domain 3	ANKRD3	NA	10830953	Standard	NM_020639	NM_020639	NA	Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000332512.3:c.1450C>T	21.37:g.43161903G>A	ENSP00000332454:p.Arg484Trp	NA		37	CCDS13675.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690655	0.29962	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057;ENST00000330470	T;T;T;T	0.15952	2.38;2.38;2.38;2.38	4.84	3.86	0.44501	.	0.205027	0.32640	N	0.005837	T	0.21841	0.0526	L	0.28014	0.82	0.23070	N	0.998349	D	0.71674	0.998	P	0.59546	0.859	T	0.02161	-1.1203	10	0.62326	D	0.03	-32.3207	9.6918	0.40134	0.0:0.0:0.5728:0.4272	.	484	P57078-2	.	W	484;532;421;421;223	ENSP00000332454:R484W;ENSP00000330161:R532W;ENSP00000441754:R421W;ENSP00000442901:R421W	ENSP00000330975:R223W	R	-	1	2	RIPK4	42034972	0.999000	0.42202	0.043000	0.18650	0.004000	0.04260	4.307000	0.59123	2.209000	0.71365	0.655000	0.94253	CGG	RIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195204.1		-	ENST00000332512.3	Missense_Mutation	SNP	21 : 43161903 - 43161903 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	570	46
CTNNB1	1499	broad.mit.edu	37	3	41275022	41275022	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41275022A>C	ENST00000349496.5	+	9	1468	c.1188A>C	c.(1186-1188)gaA>gaC	p.E396D	CTNNB1_ENST00000396183.3_Missense_Mutation_p.E396D|CTNNB1_ENST00000396185.3_Missense_Mutation_p.E396D|CTNNB1_ENST00000405570.1_Missense_Mutation_p.E396D|CTNNB1_ENST00000453024.1_Missense_Mutation_p.E389D	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	396					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CTCCATAGGAAGGGATGGAAG	0.433		15	H, Mis, T	PLAG1	colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma				Pilomatrixoma, Familial Clustering of					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(6;3 56 14213 18255)		Dom	yes		3	3p22-p21.3	1499	catenin (cadherin-associated protein), beta 1		E, M, O	0													133	126	128			NA	NA	3		NA											NA				41275022		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036	1499	1499		Armadillo repeat containing	2514	protein-coding gene	gene with protein product		116806	catenin (cadherin-associated protein), beta 1 (88kD)	CTNNB	NA	7829088	Standard	NM_001098210	NM_001098210	NA	Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1188A>C	3.37:g.41275022A>C	ENSP00000344456:p.Glu396Asp	NA	A8K1L7|Q8NEW9|Q8NI94|Q9H391	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	A	7.751	0.703292	0.15172	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.86	3.42	0.39159	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.28863	0.0716	N	0.02181	-0.65	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07539	-1.0767	10	0.08179	T	0.78	-10.668	8.4911	0.33100	0.6984:0.0:0.3016:0.0	.	324;396	B4DSW9;P35222	.;CTNB1_HUMAN	D	396;396;396;389;396	ENSP00000385604:E396D;ENSP00000379486:E396D;ENSP00000344456:E396D;ENSP00000411226:E389D;ENSP00000379488:E396D	ENSP00000344456:E396D	E	+	3	2	CTNNB1	41250026	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.379000	0.44318	0.452000	0.26830	0.533000	0.62120	GAA	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254182.2		+	ENST00000349496.5	Missense_Mutation	SNP	3 : 41275022 - 41275022 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	867	182
SLC25A16	8034	broad.mit.edu	37	10	70248346	70248346	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70248346C>T	ENST00000609923.1	-	7	749	c.651G>A	c.(649-651)ggG>ggA	p.G217G	SLC25A16_ENST00000265870.3_5'UTR|SLC25A16_ENST00000539557.1_Silent_p.G119G	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier), member 16	NA					coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						CATGGGAAAGCCCAACACTCT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	72	74			NA	NA	10		NA											NA				70248346		2203	4300	6503	SO:0001819	synonymous_variant			M31659	CCDS7280.1	10q21.3-q22.1	2014-06-17	2014-06-17		ENSG00000122912	ENSG00000122912	8034	8034		Solute carriers	10986	protein-coding gene	gene with protein product	Graves disease autoantigen	139080			NA	8444471, 2575220	Standard		NM_152707	NA	Approved	GDA, D10S105E, HGT.1, ML7	uc001joi.3	P16260	OTTHUMG00000018354	ENST00000609923.1:c.651G>A	10.37:g.70248346C>T		NA	Q8N2U1	37	CCDS7280.1																																																																																			SLC25A16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048347.2		-	ENST00000609923.1	Silent	SNP	10 : 70248346 - 70248346 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	221	36
CNTNAP3	79937	broad.mit.edu	37	9	39140635	39140635	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:39140635G>T	ENST00000297668.6	-	12	1830	c.1757C>A	c.(1756-1758)tCt>tAt	p.S586Y	CNTNAP3_ENST00000377656.2_Splice_Site_p.S586Y|CNTNAP3_ENST00000377659.1_Splice_Site_p.S586Y|CNTNAP3_ENST00000358144.2_Splice_Site_p.S498Y|CNTNAP3_ENST00000323947.7_Splice_Site_p.A493D	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	586	Fibrinogen C-terminal.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CTCGTAGAGAGCTGTAGGAGA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	24	23			NA	NA	9		NA											NA				39140635		2180	4274	6454	SO:0001630	splice_region_variant			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714	79937	79937			13834	protein-coding gene	gene with protein product	cell recognition molecule CASPR3 (FLJ14195, KIAA1714)	610517			NA	12093160	Standard	NM_033655	NM_033655	NA	Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1757-1C>A	9.37:g.39140635G>T		NA	B1AMA0|Q9C0E9	37	CCDS6616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.48|18.48	3.633518|3.633518	0.67015|0.67015	.|.	.|.	ENSG00000106714|ENSG00000106714	ENST00000323947|ENST00000297668;ENST00000377656;ENST00000358144;ENST00000377659	T|T;T;T;T	0.79033|0.17054	-1.23|2.3;2.3;2.3;2.3	2.85|2.85	2.85|2.85	0.33270|0.33270	.|Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	.|.	.|.	.|.	.|.	T|T	0.45617|0.45617	0.1351|0.1351	M|M	0.90198|0.90198	3.095|3.095	0.30073|0.30073	N|N	0.809856|0.809856	D|D;D;P	0.61697|0.71674	0.99|0.989;0.998;0.604	P|P;D;B	0.60886|0.64144	0.88|0.856;0.922;0.317	T|T	0.52653|0.52653	-0.8547|-0.8547	9|9	0.66056|0.87932	D|D	0.02|0	.|.	12.7303|12.7303	0.57195|0.57195	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	493|586;586;586	E2QRH2|Q9BZ76-2;A6NC89;Q9BZ76	.|.;.;CNTP3_HUMAN	D|Y	493|586;586;498;586	ENSP00000320728:A493D|ENSP00000297668:S586Y;ENSP00000366884:S586Y;ENSP00000350863:S498Y;ENSP00000366887:S586Y	ENSP00000320728:A493D|ENSP00000297668:S586Y	A|S	-|-	2|2	0|0	CNTNAP3|CNTNAP3	39130635|39130635	1.000000|1.000000	0.71417|0.71417	0.400000|0.400000	0.26346|0.26346	0.052000|0.052000	0.14988|0.14988	8.314000|8.314000	0.89980|0.89980	1.593000|1.593000	0.50029|0.50029	0.440000|0.440000	0.28878|0.28878	GCT|TCT	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052511.1	Missense_Mutation	-	ENST00000297668.6	Splice_Site	SNP	9 : 39140635 - 39140635 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	353	64
HIST3H2BB	128312	broad.mit.edu	37	1	228646167	228646167	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228646167T>C	ENST00000369160.2	+	1	360	c.337T>C	c.(337-339)Tcc>Ccc	p.S113P		NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	113					nucleosome assembly	nucleosome|nucleus	DNA binding			skin(1)	1		Prostate(94;0.183)				GCACGCCGTGTCCGAGGGCAC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	56	56			NA	NA	1		NA											NA				228646167		2203	4298	6501	SO:0001583	missense			AY131981	CCDS1574.1	1q42.13	2011-01-27	2006-10-11		ENSG00000196890	ENSG00000196890	128312	128312		Histones / Replication-dependent	20514	protein-coding gene	gene with protein product		615046	histone 3, H2bb		NA	12408966	Standard	NM_175055	NM_175055	NA	Approved		uc001hsz.3	Q8N257	OTTHUMG00000040045	ENST00000369160.2:c.337T>C	1.37:g.228646167T>C	ENSP00000375736:p.Ser113Pro	NA	A4FU05|Q3ZCP6|Q5TA30	37	CCDS1574.1	.	.	.	.	.	.	.	.	.	.	.	18.51	3.639928	0.67244	.	.	ENSG00000196890	ENST00000369160	T	0.46063	0.88	3.72	3.72	0.42706	Histone-fold (2);	0.000000	0.64402	D	0.000015	T	0.46795	0.1411	M	0.84511	2.7	0.58432	D	0.999996	B	0.24576	0.106	B	0.21546	0.035	T	0.55698	-0.8100	10	0.66056	D	0.02	.	11.0805	0.48057	0.0:0.0:0.0:1.0	.	113	Q8N257	H2B3B_HUMAN	P	113	ENSP00000375736:S113P	ENSP00000375736:S113P	S	+	1	0	HIST3H2BB	226712790	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.617000	0.67716	1.926000	0.55796	0.477000	0.44152	TCC	HIST3H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096597.1		+	ENST00000369160.2	Missense_Mutation	SNP	1 : 228646167 - 228646167 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	390	122
ABCA8	10351	broad.mit.edu	37	17	66891152	66891152	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66891152C>T	ENST00000269080.2	-	20	2784	c.2647G>A	c.(2647-2649)Gca>Aca	p.A883T	ABCA8_ENST00000586539.1_Missense_Mutation_p.A923T|ABCA8_ENST00000430352.2_Missense_Mutation_p.A923T	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	883						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TCAATGCTTGCCCCTAAGGTG	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	112	119			NA	NA	17		NA											NA				66891152		2203	4300	6503	SO:0001583	missense			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338	10351	10351		ATP binding cassette transporters / subfamily A	38	protein-coding gene	gene with protein product		612505			NA		Standard	NM_007168	XM_005256938	NA	Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.2647G>A	17.37:g.66891152C>T	ENSP00000269080:p.Ala883Thr	NA	Q86WW0	37	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.521765	0.27211	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	D;D	0.85484	-1.99;-1.99	3.61	-1.24	0.09435	.	0.174631	0.27411	N	0.019481	T	0.77877	0.4196	M	0.68317	2.08	0.26827	N	0.968675	B;B;B;B;B	0.32731	0.167;0.201;0.382;0.088;0.201	B;B;B;B;B	0.36092	0.138;0.217;0.146;0.053;0.217	T	0.63554	-0.6611	10	0.25106	T	0.35	.	2.698	0.05140	0.3924:0.3702:0.0:0.2374	.	862;923;923;923;883	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	T	883;923;862	ENSP00000269080:A883T;ENSP00000402814:A923T	ENSP00000269080:A883T	A	-	1	0	ABCA8	64402747	0.000000	0.05858	0.934000	0.37439	0.475000	0.33008	-1.033000	0.03571	0.012000	0.14892	0.650000	0.86243	GCA	ABCA8-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450172.1		-	ENST00000269080.2	Missense_Mutation	SNP	17 : 66891152 - 66891152 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	46
RNF5	6048	broad.mit.edu	37	6	32147691	32147691	+	Missense_Mutation	SNP	G	G	A	rs151021379	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32147691G>A	ENST00000375094.3	+	4	468	c.310G>A	c.(310-312)Gct>Act	p.A104T	RNF5_ENST00000427134.2_Missense_Mutation_p.A104T	NM_006913.3	NP_008844.1	Q99942	RNF5_HUMAN	ring finger protein 5, E3 ubiquitin protein ligase	104					ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|lung(7)|urinary_tract(2)	10						CCAGAGACCAGCTCCGGAGAG	0.527		NA											G	10	0.0046	0.002	0.02	2184	0.01	0.9998	,	,	NA	2e-04	NA	NA	NA	0.0045	0.9774	LOWCOV,EXOME	NA	NA	2e-04	SNP								NA				0													91	105	100			NA	NA	6		NA											NA				32147691		2203	4300	6503	SO:0001583	missense			U89336	CCDS4745.1	6p21.31	2013-01-09	2012-02-23			ENSG00000204308	6048	6048		RING-type (C3HC4) zinc fingers	10068	protein-coding gene	gene with protein product		602677	ring finger protein 5		NA	9533025	Standard	NM_006913	NM_006913	NA	Approved	NG2, G16, RING5, RMA1	uc031snv.1	Q99942	OTTHUMG00000031093	ENST00000375094.3:c.310G>A	6.37:g.32147691G>A	ENSP00000364235:p.Ala104Thr	NA	A2BFI6|B2R4K3|Q0VDB7|Q9UMQ2	37	CCDS4745.1	10	0.004578754578754579	1	0.0020325203252032522	6	0.016574585635359115	3	0.005244755244755245	0	0.0	G	16.81	3.224766	0.58668	.	.	ENSG00000204308	ENST00000375094;ENST00000427134	D;D	0.93811	-3.29;-3.29	5.13	4.19	0.49359	.	0.067564	0.64402	D	0.000018	D	0.85613	0.5737	L	0.27053	0.805	0.35328	D	0.78533	P	0.42785	0.79	B	0.42188	0.379	D	0.88765	0.3260	10	0.87932	D	0	-8.4379	13.1135	0.59288	0.0:0.1623:0.8377:0.0	.	104	Q99942	RNF5_HUMAN	T	104	ENSP00000364235:A104T;ENSP00000407656:A104T	ENSP00000364235:A104T	A	+	1	0	RNF5	32255669	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	6.840000	0.75369	2.539000	0.85634	0.563000	0.77884	GCT	RNF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076133.2		+	ENST00000375094.3	Missense_Mutation	SNP	6 : 32147691 - 32147691 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	695	132
OR5F1	338674	broad.mit.edu	37	11	55761759	55761759	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55761759A>G	ENST00000278409.1	-	1	342	c.343T>C	c.(343-345)Ttt>Ctt	p.F115L		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					ATTAACCCAAAGAGGATGCAT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	77	77			NA	NA	11		NA											NA				55761759		2201	4296	6497	SO:0001583	missense			AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133	338674	338674		GPCR / Class A : Olfactory receptors	8343	protein-coding gene	gene with protein product		608492			NA	9787077	Standard	NM_003697	NM_003697	NA	Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.343T>C	11.37:g.55761759A>G	ENSP00000278409:p.Phe115Leu	NA	Q495D1|Q6IFB9	37	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	A	0.033	-1.323286	0.01309	.	.	ENSG00000149133	ENST00000278409	T	0.00824	5.65	2.92	0.386	0.16254	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00210	0.0006	N	0.00014	-2.905	0.09310	N	1	B	0.23735	0.09	B	0.22386	0.039	T	0.43750	-0.9372	9	0.02654	T	1	.	6.2785	0.20993	0.4996:0.0:0.5004:0.0	.	115	O95221	OR5F1_HUMAN	L	115	ENSP00000278409:F115L	ENSP00000278409:F115L	F	-	1	0	OR5F1	55518335	0.035000	0.19736	0.306000	0.25113	0.499000	0.33736	0.295000	0.19065	0.191000	0.20236	0.247000	0.18012	TTT	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391532.1		-	ENST00000278409.1	Missense_Mutation	SNP	11 : 55761759 - 55761759 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	668	111
CCBL1	883	broad.mit.edu	37	9	131598099	131598099	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131598099C>T	ENST00000302586.3	-	9	976	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	CCBL1_ENST00000436267.2_Missense_Mutation_p.V366M|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000320665.6_Missense_Mutation_p.V222M	NM_001122671.1|NM_004059.4	NP_001116143.1|NP_004050.3	Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	272					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	TTCTGGTGCACGGTCCGCAGG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	37	36			NA	NA	9		NA											NA				131598099		2035	4185	6220	SO:0001583	missense			Y17448	CCDS43884.1, CCDS48038.1, CCDS75915.1	9q34.11	2008-03-11	2008-03-11		ENSG00000171097	ENSG00000171097	883	883	2.6.1.64		1564	protein-coding gene	gene with protein product	glutamine transaminase K, kyneurenine aminotransferase	600547	cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)		NA	7883047	Standard		NM_001122671	NA	Approved	KATI, GTK	uc004bwh.3	Q16773	OTTHUMG00000020767	ENST00000302586.3:c.814G>A	9.37:g.131598099C>T	ENSP00000302227:p.Val272Met	NA	Q5T275|Q8N191	37	CCDS43884.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512450	0.64522	.	.	ENSG00000171097	ENST00000302586;ENST00000320665;ENST00000436267	D;D;D	0.90732	-2.72;-2.72;-2.72	5.3	5.3	0.74995	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.114105	0.64402	D	0.000013	D	0.95265	0.8464	M	0.79614	2.46	0.80722	D	1	D;D;D;D	0.89917	0.996;0.962;1.0;0.962	P;P;D;P	0.77004	0.685;0.472;0.989;0.472	D	0.95540	0.8611	10	0.66056	D	0.02	-23.6335	17.9232	0.88973	0.0:1.0:0.0:0.0	.	366;272;222;272	B7Z4W5;A8K563;Q16773-2;Q16773	.;.;.;KAT1_HUMAN	M	272;222;366	ENSP00000302227:V272M;ENSP00000317342:V222M;ENSP00000399415:V366M	ENSP00000302227:V272M	V	-	1	0	CCBL1	130637920	0.997000	0.39634	0.836000	0.33094	0.925000	0.55904	3.564000	0.53791	2.468000	0.83385	0.436000	0.28706	GTG	CCBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054521.2		-	ENST00000302586.3	Missense_Mutation	SNP	9 : 131598099 - 131598099 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	177	12
TM4SF19	116211	broad.mit.edu	37	3	196050725	196050725	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196050725C>A	ENST00000446879.1	-	5	714	c.589G>T	c.(589-591)Gcc>Tcc	p.A197S	TM4SF19_ENST00000442633.1_Missense_Mutation_p.S198I|TM4SF19_ENST00000454715.1_Missense_Mutation_p.S172I|TM4SF19-AS1_ENST00000444939.1_RNA|TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19_ENST00000273695.3_Missense_Mutation_p.S198I			Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	0						integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GCCCAGGAGGCTGTTGATGAC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	82	83			NA	NA	3		NA											NA				196050725		2203	4300	6503	SO:0001583	missense			BC013113	CCDS3316.1, CCDS56299.1	3q29	2005-08-09			ENSG00000145107	ENSG00000145107	116211	116211			25167	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_138461	NM_138461	NA	Approved		uc021xjs.1	Q96DZ7	OTTHUMG00000155675	ENST00000446879.1:c.589G>T	3.37:g.196050725C>A	ENSP00000395280:p.Ala197Ser	NA	B2RV20|Q336K7	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	21.9|21.9|21.9	4.218752|4.218752|4.218752	0.79464|0.79464|0.79464	.|.|.	.|.|.	ENSG00000145107|ENSG00000145107|ENSG00000145107	ENST00000446879|ENST00000440822|ENST00000454715;ENST00000273695	T|.|T;T	0.26660|.|0.32753	1.72|.|1.44;1.44	5.31|5.31|5.31	5.31|5.31|5.31	0.75309|0.75309|0.75309	.|.|.	.|.|0.148706	.|.|0.48767	.|.|D	.|.|0.000169	T|T|T	0.51618|0.51618|0.51618	0.1685|0.1685|0.1685	M|M|M	0.62723|0.62723|0.62723	1.935|1.935|1.935	0.40063|0.40063|0.40063	D|D|D	0.975928|0.975928|0.975928	D|.|D;D	0.76494|.|0.69078	0.999|.|0.997;0.968	D|.|D;P	0.78314|.|0.68621	0.991|.|0.959;0.713	T|T|T	0.55166|0.55166|0.55166	-0.8183|-0.8183|-0.8183	9|5|10	0.15952|.|0.87932	T|.|D	0.53|.|0	-0.2669|-0.2669|-0.2669	14.4827|14.4827|14.4827	0.67594|0.67594|0.67594	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	197|.|172;198	C9JCD5|.|E9PH22;Q96DZ7	.|.|.;T4S19_HUMAN	S|H|I	197|64|172;198	ENSP00000395280:A197S|.|ENSP00000387728:S172I;ENSP00000273695:S198I	ENSP00000395280:A197S|.|ENSP00000273695:S198I	A|Q|S	-|-|-	1|3|2	0|2|0	TM4SF19|TM4SF19|TM4SF19	197535122|197535122|197535122	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.943000|0.943000|0.943000	0.58893|0.58893|0.58893	2.774000|2.774000|2.774000	0.47694|0.47694|0.47694	2.485000|2.485000|2.485000	0.83878|0.83878|0.83878	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GCC|CAG|AGC	TM4SF19-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000341175.1		-	ENST00000446879.1	Missense_Mutation	SNP	3 : 196050725 - 196050725 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	417	20
PCDH7	5099	broad.mit.edu	37	4	30725148	30725148	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:30725148C>T	ENST00000361762.2	+	1	3112	c.2104C>T	c.(2104-2106)Cgg>Tgg	p.R702W	PCDH7_ENST00000543491.1_Missense_Mutation_p.R702W	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	702	Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GTCTTTTGACCGGGAACATCA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	119	120			NA	NA	4		NA											NA				30725148		2203	4300	6503	SO:0001583	missense			AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851	5099	5099		Cadherins / Protocadherins : Non-clustered	8659	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 120	602988	BH-protocadherin (brain-heart)		NA	9615233	Standard	NM_032457, NM_002589	NM_002589	NA	Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2104C>T	4.37:g.30725148C>T	ENSP00000355243:p.Arg702Trp	NA	O60246|O60247|Q4W5C4	37	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.39|13.39	2.221890|2.221890	0.39300|0.39300	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000511884|ENST00000361762;ENST00000543491;ENST00000333135	.|T;T	.|0.60299	.|0.2;0.2	5.25|5.25	2.43|2.43	0.29744|0.29744	.|Cadherin (5);Cadherin-like (1);	.|.	.|.	.|.	.|.	D|D	0.83440|0.83440	0.5255|0.5255	H|H	0.97291|0.97291	3.975|3.975	0.49130|0.49130	D|D	0.999753|0.999753	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	D|D	0.88153|0.88153	0.2852|0.2852	5|9	.|0.87932	.|D	.|0	.|.	14.7006|14.7006	0.69154|0.69154	0.6418:0.3582:0.0:0.0|0.6418:0.3582:0.0:0.0	.|.	.|702;655;702	.|F5GWJ1;O60245-3;O60245	.|.;.;PCDH7_HUMAN	L|W	391|702;702;655	.|ENSP00000355243:R702W;ENSP00000441802:R702W	.|ENSP00000330302:R655W	P|R	+|+	2|1	0|2	PCDH7|PCDH7	30334246|30334246	0.983000|0.983000	0.35010|0.35010	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	0.084000|0.084000	0.14891|0.14891	0.285000|0.285000	0.22329|0.22329	0.655000|0.655000	0.94253|0.94253	CCG|CGG	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360366.1		+	ENST00000361762.2	Missense_Mutation	SNP	4 : 30725148 - 30725148 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	767	137
EPDR1	54749	broad.mit.edu	37	7	37988649	37988649	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:37988649C>A	ENST00000425345.1	+	2	340	c.294C>A	c.(292-294)tcC>tcA	p.S98S	EPDR1_ENST00000559325.1_Splice_Site_p.S279S|EPDR1_ENST00000199448.4_Splice_Site_p.S159S|EPDR1_ENST00000476620.1_Splice_Site_p.S57S|EPDR1_ENST00000423717.1_Intron	NM_001242948.1	NP_001229877.1	Q9UM22	EPDR1_HUMAN	ependymin related 1	159					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CAGCTAGATCCTGTAAGGGTT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	55	54			NA	NA	7		NA											NA				37988649		2203	4300	6503	SO:0001630	splice_region_variant			BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289	54749	54749			17572	protein-coding gene	gene with protein product			ependymin related protein 1 (zebrafish)		NA	11749721, 11248421	Standard	NM_017549	NM_001242946	NA	Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000425345.1:c.295+1C>A	7.37:g.37988649C>A		NA	A8K4C0|Q06BL0|Q99M77	37	CCDS59052.1																																																																																			EPDR1-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000338085.1	Silent	+	ENST00000425345.1	Splice_Site	SNP	7 : 37988649 - 37988649 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	335	69
TET1	80312	broad.mit.edu	37	10	70450655	70450655	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70450655C>T	ENST00000373644.4	+	12	5704	c.5495C>T	c.(5494-5496)tCg>tTg	p.S1832L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1832					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AAAACTTATTCGCTGATGCCA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	96	96			NA	NA	10		NA											NA				70450655		2203	4300	6503	SO:0001583	missense			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336	80312	80312			29484	protein-coding gene	gene with protein product	leukemia-associated protein with a CXXC domain, ten-eleven translocation-1	607790	CXXC zinc finger 6, tet oncogene 1	CXXC6	NA	12124344, 12646957	Standard	NM_030625	NM_030625	NA	Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.5495C>T	10.37:g.70450655C>T	ENSP00000362748:p.Ser1832Leu	NA	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	37	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751989	0.69533	.	.	ENSG00000138336	ENST00000373644	T	0.09817	2.94	5.22	4.28	0.50868	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	4.198170	0.01460	U	0.015833	T	0.30541	0.0768	M	0.73217	2.22	0.30325	N	0.787173	D	0.71674	0.998	P	0.55161	0.77	T	0.03249	-1.1056	10	0.87932	D	0	.	10.711	0.45984	0.0:0.9064:0.0:0.0936	.	1832	Q8NFU7	TET1_HUMAN	L	1832	ENSP00000362748:S1832L	ENSP00000362748:S1832L	S	+	2	0	TET1	70120661	0.957000	0.32711	0.121000	0.21740	0.847000	0.48162	2.761000	0.47589	1.121000	0.41925	0.655000	0.94253	TCG	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048354.1		+	ENST00000373644.4	Missense_Mutation	SNP	10 : 70450655 - 70450655 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	705	134
KIF23	9493	broad.mit.edu	37	15	69718750	69718750	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69718750A>C	ENST00000559279.1	+	9	1143	c.923A>C	c.(922-924)aAa>aCa	p.K308T	KIF23_ENST00000558585.1_Missense_Mutation_p.K125T|KIF23_ENST00000395392.2_Missense_Mutation_p.K308T|KIF23_ENST00000537891.1_Missense_Mutation_p.K125T|KIF23_ENST00000352331.4_Missense_Mutation_p.K308T|KIF23_ENST00000260363.4_Missense_Mutation_p.K308T			Q02241	KIF23_HUMAN	kinesin family member 23	308	Kinesin-motor.				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TTCAACATTAAATTAGTTCAG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													217	206	210			NA	NA	15		NA											NA				69718750		2199	4298	6497	SO:0001583	missense			X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807	9493	9493		Kinesins	6392	protein-coding gene	gene with protein product		605064	kinesin-like 5 (mitotic kinesin-like protein 1)	KNSL5	NA	1406973	Standard		NM_138555	NA	Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000559279.1:c.923A>C	15.37:g.69718750A>C	ENSP00000453386:p.Lys308Thr	NA	Q8WVP0	37	CCDS32279.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.004930	0.74932	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392;ENST00000537891	T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82	5.53	4.4	0.53042	Kinesin, motor domain (5);	0.044773	0.85682	D	0.000000	T	0.70692	0.3253	N	0.12831	0.26	0.58432	D	0.999999	D;D;D	0.89917	0.994;1.0;1.0	D;D;D	0.83275	0.948;0.996;0.989	T	0.65038	-0.6265	10	0.13853	T	0.58	.	10.8694	0.46875	0.9254:0.0:0.0746:0.0	.	125;308;308	B4E1K0;Q02241-2;Q02241	.;.;KIF23_HUMAN	T	308;308;308;125	ENSP00000260363:K308T;ENSP00000304978:K308T;ENSP00000378790:K308T;ENSP00000442969:K125T	ENSP00000260363:K308T	K	+	2	0	KIF23	67505804	1.000000	0.71417	0.787000	0.31911	0.964000	0.63967	6.190000	0.72057	0.910000	0.36722	0.533000	0.62120	AAA	KIF23-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416676.2		+	ENST00000559279.1	Missense_Mutation	SNP	15 : 69718750 - 69718750 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1285	263
DPP10	57628	broad.mit.edu	37	2	116283483	116283483	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:116283483A>G	ENST00000410059.1	+	5	856	c.376A>G	c.(376-378)Aaa>Gaa	p.K126E	DPP10_ENST00000310323.8_Missense_Mutation_p.K119E|DPP10_ENST00000409163.1_Missense_Mutation_p.K76E|DPP10_ENST00000393147.2_Missense_Mutation_p.K130E|DPP10_ENST00000488208.1_3'UTR	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	126					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GGTAACCTTCAAAGCATCAAG	0.279		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	82	82			NA	NA	2		NA											NA				116283483		2203	4300	6503	SO:0001583	missense			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497	57628	57628			20823	protein-coding gene	gene with protein product		608209	dipeptidylpeptidase 10, dipeptidyl-peptidase 10		NA	10819331, 12662155	Standard	NM_020868	NM_020868	NA	Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.376A>G	2.37:g.116283483A>G	ENSP00000386565:p.Lys126Glu	NA	A8K1Q2|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	37	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.070143	0.76301	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000419287;ENST00000476155	T;T;D;T;T;D	0.95724	1.61;1.61;-3.79;1.61;1.61;-3.79	4.99	4.99	0.66335	.	0.252077	0.38837	N	0.001546	D	0.95573	0.8561	M	0.69823	2.125	0.38306	D	0.94311	P;P;P;P	0.51791	0.936;0.919;0.948;0.895	P;B;P;P	0.52217	0.693;0.3;0.63;0.496	D	0.94845	0.8008	10	0.23891	T	0.37	-30.62	12.5691	0.56326	1.0:0.0:0.0:0.0	.	119;130;122;126	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	E	126;76;122;130;119;76;76	ENSP00000386565:K126E;ENSP00000387038:K76E;ENSP00000376854:K122E;ENSP00000376855:K130E;ENSP00000309066:K119E;ENSP00000402499:K76E	ENSP00000309066:K119E	K	+	1	0	DPP10	115999953	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.357000	0.73051	2.084000	0.62774	0.460000	0.39030	AAA	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330580.4		+	ENST00000410059.1	Missense_Mutation	SNP	2 : 116283483 - 116283483 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	284	62
KANSL1	284058	broad.mit.edu	37	17	44172013	44172013	+	Translation_Start_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44172013G>T	ENST00000575318.1	-	2	1377	c.1344C>A	c.(1342-1344)cgC>cgA	p.R448R	KANSL1_ENST00000262419.6_Silent_p.R448R|KANSL1_ENST00000572904.1_Silent_p.R448R|KANSL1_ENST00000393476.3_De_novo_Start_OutOfFrame|KANSL1_ENST00000432791.1_Silent_p.R448R|KANSL1_ENST00000574590.1_Silent_p.R448R			Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	448						MLL1 complex	protein binding				NA						GCCAGTTCCAGCGGCTGACAA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	124	117			NA	NA	17		NA											NA				44172013		2203	4300	6503	SO:0001819	synonymous_variant			BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071	284058	284058			24565	protein-coding gene	gene with protein product	centromere protein 36	612452	KIAA1267	KIAA1267	NA	10574462	Standard	NM_015443	NM_015443	NA	Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000575318.1:c.1344C>A	17.37:g.44172013G>T		NA	A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	37																																																																																				KANSL1-006	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000440272.1		-	ENST00000575318.1	Silent	SNP	17 : 44172013 - 44172013 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	770	121
SLIT2	9353	broad.mit.edu	37	4	20550138	20550138	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20550138G>A	ENST00000504154.1	+	23	2625	c.2373G>A	c.(2371-2373)acG>acA	p.T791T	SLIT2_ENST00000503823.1_Silent_p.T783T|SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000273739.5_Silent_p.T795T|SLIT2_ENST00000503837.1_Silent_p.T787T	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	791					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GAATAAGCACGCTTTCTAATC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	94	95			NA	NA	4		NA											NA				20550138		2203	4300	6503	SO:0001819	synonymous_variant			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147	9353	9353			11086	protein-coding gene	gene with protein product		603746	slit (Drosophila) homolog 2	SLIL3	NA	9813312, 18269211	Standard		XM_005248211	NA	Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2373G>A	4.37:g.20550138G>A		NA	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	37	CCDS3426.1																																																																																			SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250396.2		+	ENST00000504154.1	Silent	SNP	4 : 20550138 - 20550138 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	279	54
NCAPD2	9918	broad.mit.edu	37	12	6623541	6623541	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6623541G>A	ENST00000315579.5	+	7	1497	c.698G>A	c.(697-699)cGt>cAt	p.R233H	NCAPD2_ENST00000545962.1_Missense_Mutation_p.R188H	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	233	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GCCTTGACCCGTTATAACCAT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													177	176	176			NA	NA	12		NA											NA				6623541		2203	4300	6503	SO:0001583	missense			D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292	9918	9918			24305	protein-coding gene	gene with protein product	chromosome condensation related SMC associated protein 1	615638			NA	8590280, 10958694	Standard	NM_014865	NM_014865	NA	Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.698G>A	12.37:g.6623541G>A	ENSP00000325017:p.Arg233His	NA	D3DUR4|Q8N6U3	37	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044904	0.36085	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	D;D;D	0.88896	-2.44;-2.44;-2.44	5.79	4.9	0.64082	Condensin complex, subunit 1, N-terminal (1);	0.169936	0.52532	N	0.000077	D	0.84915	0.5578	L	0.40543	1.245	0.27882	N	0.939653	B;B;B	0.30146	0.078;0.27;0.142	B;B;B	0.37989	0.014;0.262;0.056	T	0.74057	-0.3787	10	0.17832	T	0.49	-5.5111	11.5501	0.50716	0.154:0.0:0.846:0.0	.	188;194;233	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	H	233;105;188;105	ENSP00000325017:R233H;ENSP00000371895:R105H;ENSP00000444417:R188H	ENSP00000325017:R233H	R	+	2	0	NCAPD2	6493802	0.998000	0.40836	0.034000	0.17996	0.901000	0.52897	4.150000	0.58098	1.451000	0.47736	0.643000	0.83706	CGT	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399964.1		+	ENST00000315579.5	Missense_Mutation	SNP	12 : 6623541 - 6623541 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1236	112
DMGDH	29958	broad.mit.edu	37	5	78351653	78351653	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78351653G>A	ENST00000255189.3	-	3	383	c.355C>T	c.(355-357)Ctg>Ttg	p.L119L	DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	119					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TCTTCTTCCAGTTTCTCATAA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	96	95			NA	NA	5		NA											NA				78351653		2202	4298	6500	SO:0001819	synonymous_variant			AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	29958	29958	1.5.99.2		24475	protein-coding gene	gene with protein product		605849			NA	10767172, 11231903	Standard	NM_013391	NM_013391	NA	Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.355C>T	5.37:g.78351653G>A		NA	B2RBN0	37	CCDS4044.1																																																																																			DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226963.3		-	ENST00000255189.3	Silent	SNP	5 : 78351653 - 78351653 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	198	31
MYH8	4626	broad.mit.edu	37	17	10318882	10318882	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10318882G>A	ENST00000403437.2	-	7	649	c.555C>T	c.(553-555)gcC>gcT	p.A185A	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	185	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CAGTCTTTCCGGCACCAGATT	0.438		NA							Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	111	114			NA	NA	17		NA											NA				10318882		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020	4626	4626		Myosins / Myosin superfamily : Class II	7578	protein-coding gene	gene with protein product		160741	myosin, heavy polypeptide 8, skeletal muscle, perinatal		NA	2373371	Standard	NM_002472	NM_002472	NA	Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.555C>T	17.37:g.10318882G>A		NA	Q14910	37	CCDS11153.1																																																																																			MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252724.2		-	ENST00000403437.2	Silent	SNP	17 : 10318882 - 10318882 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	535	107
KCNJ6	3763	broad.mit.edu	37	21	38997550	38997550	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38997550G>A	ENST00000609713.1	-	4	1772	c.1183C>T	c.(1183-1185)Ctg>Ttg	p.L395L	KCNJ6_ENST00000288309.6_Silent_p.L395L	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	NA					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TCAGTCTCCAGTTCTGCATGT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(48;379 1118 2936 19024 28214)							NA				0													214	201	205			NA	NA	21		NA											NA				38997550		1888	4126	6014	SO:0001819	synonymous_variant			U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542	3763	3763		Potassium channels, Voltage-gated ion channels / Potassium channels, Inwardly rectifying	6267	protein-coding gene	gene with protein product		600877		KCNJ7	NA	7796919, 16382105	Standard	NM_002240	NM_002240	NA	Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.1183C>T	21.37:g.38997550G>A		NA	Q3MJ74|Q53WW6	37	CCDS42927.1																																																																																			KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000194828.2		-	ENST00000609713.1	Silent	SNP	21 : 38997550 - 38997550 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	813	167
CR2	1380	broad.mit.edu	37	1	207643069	207643069	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207643069C>T	ENST00000367057.3	+	6	1036	c.847C>T	c.(847-849)Ctc>Ttc	p.L283F	CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367059.3_Missense_Mutation_p.L283F|CR2_ENST00000458541.2_Missense_Mutation_p.L283F|CR2_ENST00000367058.3_Missense_Mutation_p.L283F	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	283	Sushi 5.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TCCCCCTATTCTCAATGGAAG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	88	89			NA	NA	1		NA											NA				207643069		2203	4300	6503	SO:0001583	missense			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322	1380	1380		CD molecules, Complement system	2336	protein-coding gene	gene with protein product		120650			NA		Standard	NM_001877	NM_001006658	NA	Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367057.3:c.847C>T	1.37:g.207643069C>T	ENSP00000356024:p.Leu283Phe	NA	Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	37	CCDS31007.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287663	0.23478	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.05	1.86	0.25419	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.71995	0.3406	M	0.65975	2.015	0.09310	N	1	D;D;D	0.63046	0.992;0.98;0.991	P;D;P	0.64410	0.905;0.925;0.894	T	0.58358	-0.7650	9	0.54805	T	0.06	.	8.1256	0.30997	0.1649:0.4727:0.3624:0.0	.	283;283;283	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	F	283	ENSP00000356025:L283F;ENSP00000356024:L283F;ENSP00000356026:L283F;ENSP00000404222:L283F	ENSP00000356024:L283F	L	+	1	0	CR2	205709692	0.022000	0.18835	0.413000	0.26509	0.370000	0.29829	-0.007000	0.12810	0.780000	0.33566	-0.321000	0.08615	CTC	CR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088325.1		+	ENST00000367057.3	Missense_Mutation	SNP	1 : 207643069 - 207643069 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	574	86
PDE3A	5139	broad.mit.edu	37	12	20832995	20832995	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20832995C>T	ENST00000359062.3	+	16	3256	c.3216C>T	c.(3214-3216)taC>taT	p.Y1072Y	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1072	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GAAAAATCTACTGCCAAATAA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	56	57			NA	NA	12		NA											NA				20832995		2203	4300	6503	SO:0001819	synonymous_variant				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	5139	5139	3.1.4.17	Phosphodiesterases	8778	protein-coding gene	gene with protein product		123805			NA	1315035, 10679291	Standard		NM_000921	NA	Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.3216C>T	12.37:g.20832995C>T		NA	O60865|Q13348|Q17RD1	37	CCDS31754.1																																																																																			PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401756.2		+	ENST00000359062.3	Silent	SNP	12 : 20832995 - 20832995 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	285	36
KCNH6	81033	broad.mit.edu	37	17	61613124	61613124	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61613124C>T	ENST00000583023.1	+	6	1207	c.1196C>T	c.(1195-1197)gCt>gTt	p.A399V	KCNH6_ENST00000580652.1_Missense_Mutation_p.A399V|KCNH6_ENST00000581784.1_Missense_Mutation_p.A399V|KCNH6_ENST00000456941.2_Missense_Mutation_p.A399V|KCNH6_ENST00000314672.5_Missense_Mutation_p.A399V	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	399					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TATGGGGCGGCTGTGCTCTTC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	84	88			NA	NA	17		NA											NA				61613124		2203	4300	6503	SO:0001583	missense			AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826	81033	81033		Potassium channels, Voltage-gated ion channels / Potassium channels	18862	protein-coding gene	gene with protein product		608168			NA	16382104	Standard	NM_030779	NM_030779	NA	Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.1196C>T	17.37:g.61613124C>T	ENSP00000463533:p.Ala399Val	NA	Q9BRD7	37	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789243	0.31685	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.98531	-4.98;-4.98	4.36	4.36	0.52297	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98321	0.9443	L	0.48174	1.505	0.80722	D	1	D;B;P;D;D	0.76494	0.995;0.41;0.76;0.974;0.999	D;P;P;D;D	0.78314	0.987;0.573;0.777;0.96;0.991	D	0.99869	1.1093	10	0.87932	D	0	.	17.0722	0.86577	0.0:1.0:0.0:0.0	.	276;399;399;399;399	B4DPJ3;B4DKC0;Q9H252-2;Q9H252;Q9H252-3	.;.;.;KCNH6_HUMAN;.	V	399	ENSP00000318212:A399V;ENSP00000396900:A399V	ENSP00000318212:A399V	A	+	2	0	KCNH6	58966856	1.000000	0.71417	0.206000	0.23566	0.167000	0.22549	7.651000	0.83577	2.244000	0.73946	0.313000	0.20887	GCT	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443853.1		+	ENST00000583023.1	Missense_Mutation	SNP	17 : 61613124 - 61613124 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	440	85
GSDMD	79792	broad.mit.edu	37	8	144643581	144643581	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144643581C>T	ENST00000526406.1	+	9	1607	c.724C>T	c.(724-726)Cca>Tca	p.P242S	GSDMD_ENST00000533063.1_Missense_Mutation_p.P290S|GSDMD_ENST00000262580.4_Missense_Mutation_p.P242S	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	242										breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						GACCTTCCAGCCACCCGCGAC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	42	42			NA	NA	8		NA											NA				144643581		2200	4295	6495	SO:0001583	missense			AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518	79792	79792			25697	protein-coding gene	gene with protein product			gasdermin domain containing 1	GSDMDC1	NA	15289881, 17350798	Standard	NM_024736	NM_024736	NA	Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.724C>T	8.37:g.144643581C>T	ENSP00000433209:p.Pro242Ser	NA	D3DWJ9|Q96Q98	37	CCDS34956.1	.	.	.	.	.	.	.	.	.	.	C	3.900	-0.022276	0.07634	.	.	ENSG00000104518	ENST00000526406;ENST00000533063;ENST00000262580;ENST00000534018	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	3.64	-0.515	0.11954	.	2.577270	0.01232	N	0.008370	T	0.15003	0.0362	L	0.41573	1.285	0.09310	N	1	B;B;B	0.25312	0.057;0.057;0.123	B;B;B	0.24974	0.056;0.056;0.057	T	0.09818	-1.0657	10	0.09084	T	0.74	-1.1727	2.3156	0.04198	0.1936:0.3621:0.3335:0.1108	.	242;242;290	A8K702;P57764;G3V1A6	.;GSDMD_HUMAN;.	S	242;290;242;258	ENSP00000433209:P242S;ENSP00000433958:P290S;ENSP00000262580:P242S;ENSP00000436684:P258S	ENSP00000262580:P242S	P	+	1	0	GSDMD	144714724	0.000000	0.05858	0.000000	0.03702	0.385000	0.30292	-0.230000	0.09083	-0.115000	0.11915	0.637000	0.83480	CCA	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382046.3		+	ENST00000526406.1	Missense_Mutation	SNP	8 : 144643581 - 144643581 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	98	21
PRKCD	5580	broad.mit.edu	37	3	53220652	53220652	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53220652C>T	ENST00000394729.2	+	13	1621	c.1293C>T	c.(1291-1293)aaC>aaT	p.N431N	PRKCD_ENST00000330452.3_Silent_p.N431N	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	431	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		AGTTCCTCAACGGGGGGGACC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	1,4405	2.1+/-5.4	0,1,2202	217	223	221		1293,1293	-8.5	0.4	3		221	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PRKCD	NM_006254.3,NM_212539.1	,	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	,	431/677,431/677	53220652	1,13005	2203	4300	6503	SO:0001819	synonymous_variant				CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	5580	5580	2.7.11.1		9399	protein-coding gene	gene with protein product		176977			NA	8188219	Standard		NM_006254	NA	Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.1293C>T	3.37:g.53220652C>T		NA	B2R834|Q15144|Q86XJ6	37	CCDS2870.1																																																																																			PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257818.1		+	ENST00000394729.2	Silent	SNP	3 : 53220652 - 53220652 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1898	319
DAGLA	747	broad.mit.edu	37	11	61498802	61498802	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61498802G>A	ENST00000257215.5	+	9	979	c.863G>A	c.(862-864)cGc>cAc	p.R288H		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	288					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GAGATGCTCCGCTACAAAGAG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	79	82			NA	NA	11		NA											NA				61498802		2202	4299	6501	SO:0001583	missense			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	747	747	3.1.1.-		1165	protein-coding gene	gene with protein product	neural stem cell-derived dendrite regulator	614015	chromosome 11 open reading frame 11	C11orf11	NA	9734811	Standard	NM_006133	NM_006133	NA	Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.863G>A	11.37:g.61498802G>A	ENSP00000257215:p.Arg288His	NA	A7E233|Q6WQJ0	37	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.609647	0.46527	.	.	ENSG00000134780	ENST00000257215	T	0.23950	1.88	4.83	4.83	0.62350	.	0.051766	0.85682	D	0.000000	T	0.18841	0.0452	N	0.14661	0.345	0.51767	D	0.999934	D	0.61080	0.989	P	0.45232	0.474	T	0.04840	-1.0923	10	0.15066	T	0.55	-31.8186	18.3022	0.90168	0.0:0.0:1.0:0.0	.	288	Q9Y4D2	DGLA_HUMAN	H	288	ENSP00000257215:R288H	ENSP00000257215:R288H	R	+	2	0	DAGLA	61255378	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	6.339000	0.72969	2.416000	0.81992	0.555000	0.69702	CGC	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398516.1		+	ENST00000257215.5	Missense_Mutation	SNP	11 : 61498802 - 61498802 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	462	88
KLHL6	89857	broad.mit.edu	37	3	183225986	183225986	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183225986A>G	ENST00000341319.3	-	3	805	c.770T>C	c.(769-771)gTc>gCc	p.V257A		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	257	BACK.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GTTCTCGAGGACATAGGGGAG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	142	147			NA	NA	3		NA											NA				183225986		2203	4300	6503	SO:0001583	missense			AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578	89857	89857		Kelch-like, BTB/POZ domain containing	18653	protein-coding gene	gene with protein product	kelch-like protein KLHL6	614214	kelch-like 6 (Drosophila)		NA	11214971, 12617994	Standard	NM_130446	NM_130446	NA	Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.770T>C	3.37:g.183225986A>G	ENSP00000341342:p.Val257Ala	NA	B2RB31|D3DNS8|Q8N5I1|Q8N892	37	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	A	18.72	3.684303	0.68157	.	.	ENSG00000172578	ENST00000341319	T	0.71934	-0.61	5.87	5.87	0.94306	BTB/Kelch-associated (2);	0.625119	0.17099	N	0.187080	T	0.68751	0.3035	L	0.48877	1.53	0.22975	N	0.998485	B	0.25272	0.122	B	0.29524	0.103	T	0.64516	-0.6389	10	0.87932	D	0	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	257	Q8WZ60	KLHL6_HUMAN	A	257	ENSP00000341342:V257A	ENSP00000341342:V257A	V	-	2	0	KLHL6	184708680	0.968000	0.33430	0.047000	0.18901	0.871000	0.50021	8.678000	0.91211	2.371000	0.80710	0.533000	0.62120	GTC	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000309024.1		-	ENST00000341319.3	Missense_Mutation	SNP	3 : 183225986 - 183225986 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	564	97
CLDN17	26285	broad.mit.edu	37	21	31538308	31538308	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31538308G>A	ENST00000286808.3	-	1	663	c.628C>T	c.(628-630)Cga>Tga	p.R210*		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	210					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						GTATTTCTTCGCTTATCTGTG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	247	234	239		628	4.6	0	21		239	0,8600		0,0,4300	no	stop-gained	CLDN17	NM_012131.2		0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077		210/225	31538308	1,13005	2203	4300	6503	SO:0001587	stop_gained			AJ250712	CCDS13586.1	21q22.1	2008-07-31			ENSG00000156282	ENSG00000156282	26285	26285		Claudins	2038	protein-coding gene	gene with protein product					NA	12736707	Standard	NM_012131	NM_012131	NA	Approved	MGC126552, MGC126554	uc011acv.2	P56750	OTTHUMG00000081873	ENST00000286808.3:c.628C>T	21.37:g.31538308G>A	ENSP00000286808:p.Arg210*	NA	Q3MJB5|Q6UY37	37	CCDS13586.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271533	0.59649	2.27E-4	0.0	ENSG00000156282	ENST00000286808	.	.	.	4.63	4.63	0.57726	.	1.504630	0.03641	N	0.239477	.	.	.	.	.	.	0.37719	D	0.924843	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	18.4009	0.90515	0.0:0.0:1.0:0.0	.	.	.	.	X	210	.	ENSP00000286808:R210X	R	-	1	2	CLDN17	30460179	0.543000	0.26434	0.020000	0.16555	0.034000	0.12701	4.862000	0.62976	2.865000	0.98341	0.655000	0.94253	CGA	CLDN17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000182261.1		-	ENST00000286808.3	Nonsense_Mutation	SNP	21 : 31538308 - 31538308 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	410	46
GTF2H4	2968	broad.mit.edu	37	6	30878524	30878524	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30878524G>A	ENST00000259895.4	+	5	680	c.457G>A	c.(457-459)Gag>Aag	p.E153K	GTF2H4_ENST00000539324.1_Missense_Mutation_p.E97K|GTF2H4_ENST00000376316.2_Missense_Mutation_p.E153K	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	153					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						CAAGTACGCCGAGGAGCGATG	0.592		NA						Nucleotide excision repair (NER)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	72	81			NA	NA	6		NA											NA				30878524		1510	2707	4217	SO:0001583	missense			Y07595	CCDS34386.1	6p21.3	2012-11-05	2002-08-29		ENSG00000213780	ENSG00000213780	2968	2968		General transcription factors, General transcription factor IIH complex subunits	4658	protein-coding gene	gene with protein product		601760	general transcription factor IIH, polypeptide 4 (52kD subunit)		NA	9118947	Standard	NM_001517	NM_001517	NA	Approved	TFB2, TFIIH, P52	uc003nsa.1	Q92759	OTTHUMG00000031043	ENST00000259895.4:c.457G>A	6.37:g.30878524G>A	ENSP00000259895:p.Glu153Lys	NA		37	CCDS34386.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774068	0.31411	.	.	ENSG00000213780	ENST00000259895;ENST00000539324;ENST00000376316	T;T;T	0.39787	1.06;1.06;1.06	5.28	5.28	0.74379	.	0.211455	0.37261	U	0.002171	T	0.07052	0.0179	N	0.01668	-0.77	0.80722	D	1	B;B;B;B	0.17667	0.014;0.023;0.008;0.008	B;B;B;B	0.15870	0.014;0.01;0.014;0.014	T	0.26608	-1.0098	10	0.06099	T	0.92	-22.7534	16.4627	0.84069	0.0:0.0:1.0:0.0	.	159;97;153;153	B4DNU0;B4DTJ5;Q53HH3;Q92759	.;.;.;TF2H4_HUMAN	K	153;97;153	ENSP00000259895:E153K;ENSP00000442700:E97K;ENSP00000365493:E153K	ENSP00000259895:E153K	E	+	1	0	GTF2H4	30986503	1.000000	0.71417	0.975000	0.42487	0.535000	0.34838	4.069000	0.57541	2.747000	0.94245	0.650000	0.86243	GAG	GTF2H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076044.3		+	ENST00000259895.4	Missense_Mutation	SNP	6 : 30878524 - 30878524 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	180	30
CYSLTR2	57105	broad.mit.edu	37	13	49281308	49281308	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49281308T>C	ENST00000282018.3	+	1	358	c.355T>C	c.(355-357)Tat>Cat	p.Y119H		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	119					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TTATTCCTTGTATGTCAACAT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													182	176	178			NA	NA	13		NA											NA				49281308		2203	4300	6503	SO:0001583	missense			AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207	57105	57105		GPCR / Class A : Leukotriene receptors	18274	protein-coding gene	gene with protein product		605666			NA	10913337, 1085123	Standard		NM_020377	NA	Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.355T>C	13.37:g.49281308T>C	ENSP00000282018:p.Tyr119His	NA	Q9HCQ2	37	CCDS9412.1	.	.	.	.	.	.	.	.	.	.	T	19.70	3.877179	0.72294	.	.	ENSG00000152207	ENST00000282018	T	0.73363	-0.74	6.08	6.08	0.98989	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000008	D	0.85801	0.5781	M	0.75085	2.285	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	D	0.86089	0.1549	10	0.49607	T	0.09	.	15.825	0.78698	0.0:0.0:0.0:1.0	.	119	Q9NS75	CLTR2_HUMAN	H	119	ENSP00000282018:Y119H	ENSP00000282018:Y119H	Y	+	1	0	CYSLTR2	48179309	1.000000	0.71417	0.992000	0.48379	0.981000	0.71138	6.262000	0.72514	2.333000	0.79357	0.533000	0.62120	TAT	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044894.1		+	ENST00000282018.3	Missense_Mutation	SNP	13 : 49281308 - 49281308 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	597	77
RIPPLY2	134701	broad.mit.edu	37	6	84566960	84566960	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84566960G>A	ENST00000369689.1	+	4	390		c.e4-1		RIPPLY2_ENST00000369687.1_Splice_Site	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2	NA					somite rostral/caudal axis specification	nucleus				large_intestine(2)|lung(4)|urinary_tract(1)	7						GCTTCTTTCAGACTATTTTGG	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4404		0,0,2202	62	67	65			5.5	1	6		65	1,8589	1.2+/-3.3	0,1,4294	no	splice-3	RIPPLY2	NM_001009994.1		0,1,6496	AA,AG,GG	NA	0.0116,0.0,0.0077			84566960	1,12993	2202	4295	6497	SO:0001630	splice_region_variant			BC130460	CCDS34493.1	6q14.2	2013-07-23	2013-07-23	2008-05-07	ENSG00000203877	ENSG00000203877	134701	134701			21390	protein-coding gene	gene with protein product		609891	chromosome 6 open reading frame 159, ripply2 homolog (zebrafish)	C6orf159	NA		Standard	NM_001009994	NM_001009994	NA	Approved	dJ237I15.1	uc003pke.3	Q5TAB7	OTTHUMG00000015117	ENST00000369689.1:c.240-1G>A	6.37:g.84566960G>A		NA	Q5TAB6	37	CCDS34493.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173706	0.78452	0.0	1.16E-4	ENSG00000203877	ENST00000369689;ENST00000369687	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6591	0.95857	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RIPPLY2	84623679	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.729000	0.91490	2.879000	0.98667	0.650000	0.86243	.	RIPPLY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041360.1	Intron	+	ENST00000369689.1	Splice_Site	SNP	6 : 84566960 - 84566960 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	302	49
GRM1	2911	broad.mit.edu	37	6	146720739	146720739	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146720739T>G	ENST00000392299.2	+	8	3034	c.2564T>G	c.(2563-2565)gTt>gGt	p.V855G	GRM1_ENST00000355289.4_Missense_Mutation_p.V855G|GRM1_ENST00000492807.2_Missense_Mutation_p.V855G|GRM1_ENST00000282753.1_Missense_Mutation_p.V855G|GRM1_ENST00000507907.1_Missense_Mutation_p.V855G|GRM1_ENST00000361719.2_Missense_Mutation_p.V855G			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	855					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ACCTCTGATGTTGTCCGCATG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	63	67			NA	NA	6		NA											NA				146720739		2203	4300	6503	SO:0001583	missense			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822	2911	2911		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4593	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 85	604473			NA	9076744, 9376535	Standard	NM_000838	NM_001278064	NA	Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000392299.2:c.2564T>G	6.37:g.146720739T>G	ENSP00000376119:p.Val855Gly	NA	B9EG79|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	37	CCDS47497.1	.	.	.	.	.	.	.	.	.	.	T	13.73	2.323425	0.41096	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.88586	-2.38;-2.4;-2.4;-2.38;-2.38;-2.4	5.68	5.68	0.88126	.	0.057513	0.64402	D	0.000001	D	0.84727	0.5536	M	0.79475	2.455	0.80722	D	1	B;P;P	0.39282	0.382;0.666;0.534	B;B;B	0.33339	0.149;0.162;0.149	D	0.87970	0.2736	10	0.72032	D	0.01	.	15.9149	0.79503	0.0:0.0:0.0:1.0	.	855;855;855	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	G	855	ENSP00000354896:V855G;ENSP00000376119:V855G;ENSP00000424095:V855G;ENSP00000282753:V855G;ENSP00000347437:V855G;ENSP00000425599:V855G	ENSP00000282753:V855G	V	+	2	0	GRM1	146762432	1.000000	0.71417	0.099000	0.21106	0.977000	0.68977	6.169000	0.71913	2.169000	0.68431	0.477000	0.44152	GTT	GRM1-202	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042575.2		+	ENST00000392299.2	Missense_Mutation	SNP	6 : 146720739 - 146720739 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	306	63
MUC16	94025	broad.mit.edu	37	19	9061129	9061129	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9061129T>C	ENST00000397910.4	-	3	26520	c.26317A>G	c.(26317-26319)Att>Gtt	p.I8773V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8775	Ser-rich.|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						GGAGTAGAAATTCTAGTGATG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	138	143			NA	NA	19		NA											NA				9061129		1966	4152	6118	SO:0001583	missense			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.26317A>G	19.37:g.9061129T>C	ENSP00000381008:p.Ile8773Val	NA	Q6ZQW5|Q96RK2	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	4.633	0.117590	0.08881	.	.	ENSG00000181143	ENST00000397910	T	0.02236	4.38	2.28	-2.41	0.06562	.	.	.	.	.	T	0.01421	0.0046	N	0.19112	0.55	.	.	.	B	0.16603	0.018	B	0.13407	0.009	T	0.48990	-0.8985	8	0.87932	D	0	.	0.0826	0.00033	0.2812:0.2196:0.2523:0.2469	.	8773	B5ME49	.	V	8773	ENSP00000381008:I8773V	ENSP00000381008:I8773V	I	-	1	0	MUC16	8922129	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.877000	0.04197	-0.533000	0.06323	0.248000	0.18094	ATT	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Missense_Mutation	SNP	19 : 9061129 - 9061129 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	572	114
C10orf68	0	broad.mit.edu	37	10	33135307	33135307	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:33135307C>T	ENST00000375030.2	+	18	1832	c.1214C>T	c.(1213-1215)aCt>aTt	p.T405I	C10orf68_ENST00000375028.3_Missense_Mutation_p.T450I|C10orf68_ENST00000375025.4_Missense_Mutation_p.T510I			Q9H943	CJ068_HUMAN		446										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TCTATAGAGACTGATAAAGAA	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	41	40			NA	NA	10		NA											NA				33135307		2195	4270	6465	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000375030.2:c.1214C>T	10.37:g.33135307C>T	ENSP00000364170:p.Thr405Ile	NA	B0QZ71|Q08AN7|Q8N7T7	37		.	.	.	.	.	.	.	.	.	.	.	8.117	0.780115	0.16120	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T;T	0.28895	1.61;1.7;1.59;1.59	2.21	1.27	0.21489	.	.	.	.	.	T	0.44993	0.1320	M	0.62723	1.935	0.09310	N	1	B;B;B;D	0.65815	0.042;0.015;0.137;0.995	B;B;B;D	0.66351	0.019;0.019;0.031;0.943	T	0.17592	-1.0364	9	0.56958	D	0.05	.	6.0096	0.19567	0.307:0.693:0.0:0.0	.	427;446;450;405	B4DX58;Q9H943;A2A3B4;A2A3D6	.;CJ068_HUMAN;.;.	I	446;405;450;510;422	ENSP00000303710:T446I;ENSP00000364170:T405I;ENSP00000364168:T450I;ENSP00000364165:T510I	ENSP00000303710:T446I	T	+	2	0	C10orf68	33175313	0.000000	0.05858	0.060000	0.19600	0.272000	0.26649	-0.030000	0.12308	0.466000	0.27193	0.453000	0.30009	ACT	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000313999.2		+	ENST00000375030.2	Missense_Mutation	SNP	10 : 33135307 - 33135307 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	33
CPEB4	80315	broad.mit.edu	37	5	173378900	173378900	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:173378900A>C	ENST00000265085.5	+	8	3193	c.1739A>C	c.(1738-1740)aAa>aCa	p.K580T	CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000522336.1_Missense_Mutation_p.K190T|CPEB4_ENST00000520867.1_Missense_Mutation_p.K555T|CPEB4_ENST00000517880.1_Missense_Mutation_p.K173T|CPEB4_ENST00000519835.1_Missense_Mutation_p.K555T|CPEB4_ENST00000334035.5_Missense_Mutation_p.K563T	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	580	RRM 2.						nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GACCCACGAAAAACTATATTT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	144	152			NA	NA	5		NA											NA				173378900		2203	4300	6503	SO:0001583	missense			BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742	80315	80315		RNA binding motif (RRM) containing	21747	protein-coding gene	gene with protein product		610607			NA	11214970, 12672660	Standard	NM_030627	NM_030627	NA	Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.1739A>C	5.37:g.173378900A>C	ENSP00000265085:p.Lys580Thr	NA	B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	37	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.899702	0.91962	.	.	ENSG00000113742	ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835;ENST00000522336;ENST00000517880	T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92	5.55	5.55	0.83447	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.040740	0.85682	D	0.000000	T	0.47414	0.1444	L	0.52905	1.665	0.58432	D	0.999998	D;D;D;D;D	0.76494	0.999;0.997;0.997;0.992;0.994	D;D;D;D;D	0.76071	0.987;0.982;0.96;0.917;0.96	T	0.45716	-0.9242	10	0.87932	D	0	-16.4703	15.993	0.80220	1.0:0.0:0.0:0.0	.	555;563;555;190;580	B7ZLQ8;Q17RY0-2;E5RJM0;E5RFP2;Q17RY0	.;.;.;.;CPEB4_HUMAN	T	580;555;563;555;190;173	ENSP00000265085:K580T;ENSP00000429092:K555T;ENSP00000334533:K563T;ENSP00000429048:K555T;ENSP00000430345:K190T;ENSP00000427990:K173T	ENSP00000265085:K580T	K	+	2	0	CPEB4	173311506	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.236000	0.73375	0.528000	0.53228	AAA	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252964.2		+	ENST00000265085.5	Missense_Mutation	SNP	5 : 173378900 - 173378900 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	295	26
NFKBID	84807	broad.mit.edu	37	19	36387361	36387361	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36387361G>A	ENST00000396901.1	-	7	911	c.338C>T	c.(337-339)gCc>gTc	p.A113V	NFKBID_ENST00000606253.1_Missense_Mutation_p.A113V|NFKBID_ENST00000352614.2_Missense_Mutation_p.A265V	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	113					inflammatory response	nucleus				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						ATGGTCAGCGGCATTGGGCTC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	66	63			NA	NA	19		NA											NA				36387361		2047	4191	6238	SO:0001583	missense			AF385434	CCDS42552.1	19q13.12	2013-01-10				ENSG00000167604	84807	84807		Ankyrin repeat domain containing	15671	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_032721	NM_139239	NA	Approved	TA-NFKBH, IkappaBNS	uc002oci.1	Q8NI38		ENST00000396901.1:c.338C>T	19.37:g.36387361G>A	ENSP00000380109:p.Ala113Val	NA	Q8NI39|Q9BRG9	37	CCDS42552.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.398000	0.25205	.	.	ENSG00000167604	ENST00000352614;ENST00000396901	T;T	0.67865	-0.29;-0.29	4.81	3.74	0.42951	Ankyrin repeat-containing domain (4);	0.119358	0.56097	D	0.000032	T	0.59932	0.2230	L	0.39147	1.195	0.80722	D	1	B;B	0.27416	0.178;0.066	B;B	0.34418	0.182;0.053	T	0.58814	-0.7570	10	0.49607	T	0.09	.	11.8805	0.52574	0.0:0.0:0.8239:0.1761	.	265;113	Q8NI38-2;Q8NI38	.;IKBD_HUMAN	V	265;113	ENSP00000252985:A265V;ENSP00000380109:A113V	ENSP00000252985:A265V	A	-	2	0	NFKBID	41079201	0.996000	0.38824	0.886000	0.34754	0.625000	0.37756	3.571000	0.53841	0.958000	0.37956	0.561000	0.74099	GCC	NFKBID-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452927.3		-	ENST00000396901.1	Missense_Mutation	SNP	19 : 36387361 - 36387361 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	411	39
MACF1	23499	broad.mit.edu	37	1	39798740	39798740	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39798740T>A	ENST00000372915.3	+	36	6582	c.6495T>A	c.(6493-6495)caT>caA	p.H2165Q	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.H600Q|MACF1_ENST00000567887.1_Missense_Mutation_p.H2197Q|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.H2160Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2165					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAAAGAACATCAACCTCTAA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	62	61			NA	NA	1		NA											NA				39798740		2203	4300	6503	SO:0001583	missense			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603	23499	23499		EF-hand domain containing	13664	protein-coding gene	gene with protein product	actin cross-linking factor, 620 kDa actin binding protein, macrophin 1, trabeculin-alpha, actin cross-linking family protein 7	608271			NA	7635207, 10529403	Standard	NM_033044	NM_012090	NA	Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.6495T>A	1.37:g.39798740T>A	ENSP00000362006:p.His2165Gln	NA	E9PJT0|O75053|Q5VW20|Q8WXY2|Q9H540|Q9UKP0|Q9ULG9	37		.	.	.	.	.	.	.	.	.	.	T	0.026	-1.366911	0.01225	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.60672	0.17;1.27	5.92	2.84	0.33178	.	1.286490	0.05217	N	0.507867	T	0.41766	0.1173	N	0.14661	0.345	0.09310	N	1	B	0.14805	0.011	B	0.15870	0.014	T	0.26395	-1.0104	10	0.20519	T	0.43	.	9.7105	0.40243	0.0:0.4105:0.43:0.1595	.	2165	Q9UPN3	MACF1_HUMAN	Q	2165;600	ENSP00000362006:H2165Q;ENSP00000289893:H600Q	ENSP00000289893:H600Q	H	+	3	2	MACF1	39571327	0.000000	0.05858	0.038000	0.18304	0.040000	0.13550	0.299000	0.19138	0.308000	0.22923	0.383000	0.25322	CAT	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000392096.1		+	ENST00000372915.3	Missense_Mutation	SNP	1 : 39798740 - 39798740 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	328	22
PRKG2	5593	broad.mit.edu	37	4	82065465	82065465	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:82065465C>T	ENST00000395578.1	-	10	1290	c.1174G>A	c.(1174-1176)Ggt>Agt	p.G392S	PRKG2_ENST00000545647.1_5'UTR|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000264399.1_Missense_Mutation_p.G392S|PRKG2_ENST00000418486.2_Missense_Mutation_p.G392S			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	392					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	p.G392C(2)		NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TCAAATGTACCGACAGTTTGG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(2)											146	136	139			NA	NA	4		NA											NA				82065465		2203	4300	6503	SO:0001583	missense			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	5593	5593	2.7.11.1		9416	protein-coding gene	gene with protein product		601591			NA	7498513	Standard	NM_006259	XM_005263126	NA	Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.1174G>A	4.37:g.82065465C>T	ENSP00000378945:p.Gly392Ser	NA	O00125|O60916	37	CCDS3589.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711059	0.68730	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	D;D;D	0.92495	-3.05;-3.05;-3.05	5.31	5.31	0.75309	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.95294	0.8473	M	0.69248	2.105	0.80722	D	1	D;D	0.76494	0.995;0.999	D;D	0.67900	0.924;0.954	D	0.94558	0.7760	10	0.44086	T	0.13	-25.4218	18.9359	0.92584	0.0:1.0:0.0:0.0	.	392;392	E7EPE6;Q13237	.;KGP2_HUMAN	S	392	ENSP00000378945:G392S;ENSP00000264399:G392S;ENSP00000389038:G392S	ENSP00000264399:G392S	G	-	1	0	PRKG2	82284489	1.000000	0.71417	0.962000	0.40283	0.516000	0.34256	7.010000	0.76353	2.640000	0.89533	0.655000	0.94253	GGT	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252639.1		-	ENST00000395578.1	Missense_Mutation	SNP	4 : 82065465 - 82065465 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	547	24
FMR1	2332	broad.mit.edu	37	X	147024736	147024736	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:147024736G>A	ENST00000370475.4	+	14	1489	c.1361G>A	c.(1360-1362)cGt>cAt	p.R454H	FMR1_ENST00000492846.1_3'UTR|FMR1_ENST00000370470.1_Missense_Mutation_p.R454H|FMR1_ENST00000439526.2_Missense_Mutation_p.R431H|FMR1_ENST00000440235.2_Missense_Mutation_p.R101H|FMR1_ENST00000218200.8_Missense_Mutation_p.R433H|FMR1_ENST00000370477.1_Missense_Mutation_p.R433H|FMR1_ENST00000370471.3_Intron	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	454	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	p.R454P(1)		NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					CCACCAAATCGTACAGATAAG	0.448		NA							Fragile X syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											183	158	166			NA	NA	X		NA											NA				147024736		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081	2332	2332			3775	protein-coding gene	gene with protein product		309550	premature ovarian failure 1	POF1, POF	NA	1572655	Standard	NM_002024	NM_002024	NA	Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.1361G>A	X.37:g.147024736G>A	ENSP00000359506:p.Arg454His	NA	A6NNH4|D3DWT0|D3DWT1|D3DWT2|Q16578|Q5PQZ6|Q99054	37	CCDS14682.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263875	0.80358	.	.	ENSG00000102081	ENST00000218200;ENST00000370477;ENST00000370475;ENST00000439526;ENST00000370470;ENST00000440235	T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.58438	0.2122	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;P;D	0.91635	0.993;0.999;0.995;0.904;0.997	T	0.54892	-0.8225	10	0.37606	T	0.19	-20.0485	17.5771	0.87953	0.0:0.0:1.0:0.0	.	101;454;349;433;431	F8W871;Q06787;Q59GC1;Q06787-8;G3V0J0	.;FMR1_HUMAN;.;.;.	H	433;433;454;431;454;101	ENSP00000218200:R433H;ENSP00000359508:R433H;ENSP00000359506:R454H;ENSP00000395923:R431H;ENSP00000359501:R454H;ENSP00000413764:R101H	ENSP00000218200:R433H	R	+	2	0	FMR1	146832428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.593000	0.67550	2.367000	0.80283	0.600000	0.82982	CGT	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058655.1		+	ENST00000370475.4	Missense_Mutation	SNP	X : 147024736 - 147024736 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	547	138
ABCB1	5243	broad.mit.edu	37	7	87195518	87195518	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87195518A>C	ENST00000265724.3	-	8	987	c.570T>G	c.(568-570)atT>atG	p.I190M	ABCB1_ENST00000543898.1_Missense_Mutation_p.I126M	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	190	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AGAACATTCCAATTTTGTCAC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	136	140			NA	NA	7		NA											NA				87195518		2203	4300	6503	SO:0001583	missense			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563	5243	5243		CD molecules, ATP binding cassette transporters / subfamily B	40	protein-coding gene	gene with protein product	multidrug resistance protein 1	171050	colchicin sensitivity	PGY1, MDR1, CLCS	NA	3027054	Standard	NM_000927	NM_000927	NA	Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.570T>G	7.37:g.87195518A>C	ENSP00000265724:p.Ile190Met	NA	A8K294|Q12755|Q14812	37	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	A	12.60	1.985152	0.35036	.	.	ENSG00000085563	ENST00000265724;ENST00000543898	D;D	0.91068	-2.78;-2.78	5.86	-2.1	0.07210	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.151959	0.64402	D	0.000017	D	0.90215	0.6941	L	0.39245	1.2	0.38962	D	0.958578	B;B	0.30211	0.273;0.198	B;P	0.54499	0.356;0.754	T	0.82559	-0.0397	10	0.35671	T	0.21	-10.6385	7.6401	0.28288	0.4865:0.1195:0.3941:0.0	.	126;190	B5AK60;P08183	.;MDR1_HUMAN	M	190;126	ENSP00000265724:I190M;ENSP00000444095:I126M	ENSP00000265724:I190M	I	-	3	3	ABCB1	87033454	0.981000	0.34729	0.992000	0.48379	0.990000	0.78478	0.350000	0.20079	-0.349000	0.08274	-0.290000	0.09829	ATT	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335444.2		-	ENST00000265724.3	Missense_Mutation	SNP	7 : 87195518 - 87195518 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	564	108
DDX51	317781	broad.mit.edu	37	12	132627285	132627285	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132627285A>G	ENST00000397333.3	-	3	696	c.658T>C	c.(658-660)Tcc>Ccc	p.S220P		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	220					rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GGAAAGTAGGACGAGATGCCG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	68	65			NA	NA	12		NA											NA				132627285		2075	4197	6272	SO:0001583	missense			BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163	317781	317781		DEAD-boxes	20082	protein-coding gene	gene with protein product					NA		Standard	NM_175066	NM_175066	NA	Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.658T>C	12.37:g.132627285A>G	ENSP00000380495:p.Ser220Pro	NA	A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	37	CCDS41865.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.168370	0.38315	.	.	ENSG00000185163	ENST00000397333	T	0.02103	4.45	4.57	0.326	0.15908	DEAD-like helicase (1);	0.501813	0.22809	N	0.055367	T	0.03915	0.0110	M	0.80746	2.51	0.22468	N	0.99908	P	0.44986	0.847	B	0.42738	0.396	T	0.32052	-0.9921	10	0.35671	T	0.21	-19.5276	5.8345	0.18599	0.5219:0.3214:0.0:0.1567	.	220	Q8N8A6	DDX51_HUMAN	P	220	ENSP00000380495:S220P	ENSP00000380495:S220P	S	-	1	0	DDX51	131193238	0.380000	0.25131	0.325000	0.25375	0.683000	0.39861	0.895000	0.28363	0.111000	0.17947	0.402000	0.26972	TCC	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398978.1		-	ENST00000397333.3	Missense_Mutation	SNP	12 : 132627285 - 132627285 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	408	78
HIP1R	9026	broad.mit.edu	37	12	123339642	123339642	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123339642C>T	ENST00000253083.4	+	10	944	c.819C>T	c.(817-819)ttC>ttT	p.F273F		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	273					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		TGCTGTACTTCAAGCGGCTCA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	96	94			NA	NA	12		NA											NA				123339642		2203	4300	6503	SO:0001819	synonymous_variant			AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787	9026	9026			18415	protein-coding gene	gene with protein product		605613			NA	16415883	Standard	NM_003959	NM_003959	NA	Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.819C>T	12.37:g.123339642C>T		NA	A6NHQ6|Q9UED9	37	CCDS31922.1																																																																																			HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400935.1		+	ENST00000253083.4	Silent	SNP	12 : 123339642 - 123339642 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	895	196
C3orf67	200844	broad.mit.edu	37	3	58855183	58855183	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58855183A>G	ENST00000472469.1	-	8	1109	c.271T>C	c.(271-273)Tca>Cca	p.S91P	C3orf67_ENST00000482387.1_Missense_Mutation_p.S171P|RP11-147N17.1_ENST00000463703.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.S171P|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	171										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		GGCTGGCATGATCGGTTATTT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	111	113			NA	NA	3		NA											NA				58855183		2203	4300	6503	SO:0001583	missense			AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689	200844	200844			24763	protein-coding gene	gene with protein product					NA		Standard	NM_198463	NM_198463	NA	Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000472469.1:c.271T>C	3.37:g.58855183A>G	ENSP00000417271:p.Ser91Pro	NA	B9EKV6|Q6ZV69	37		.	.	.	.	.	.	.	.	.	.	A	13.48	2.250966	0.39797	.	.	ENSG00000163689	ENST00000295966;ENST00000482387;ENST00000472469	T;T;T	0.55052	0.54;0.54;0.54	5.85	3.21	0.36854	.	0.547984	0.17910	N	0.157884	T	0.45337	0.1337	L	0.59436	1.845	0.09310	N	1	B;B	0.22683	0.073;0.004	B;B	0.25884	0.064;0.011	T	0.39683	-0.9602	10	0.44086	T	0.13	-1.7827	5.7794	0.18297	0.7533:0.0:0.0873:0.1594	.	91;171	C9J3M8;Q6ZVT6-2	.;.	P	171;171;91	ENSP00000295966:S171P;ENSP00000417122:S171P;ENSP00000417271:S91P	ENSP00000295966:S171P	S	-	1	0	C3orf67	58830223	0.542000	0.26426	0.003000	0.11579	0.347000	0.29111	2.849000	0.48286	1.044000	0.40200	0.533000	0.62120	TCA	C3orf67-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000353804.1		-	ENST00000472469.1	Missense_Mutation	SNP	3 : 58855183 - 58855183 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	476	113
PLCL1	5334	broad.mit.edu	37	2	198968628	198968628	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198968628G>A	ENST00000428675.1	+	5	3471	c.3073G>A	c.(3073-3075)Gag>Aag	p.E1025K	PLCL1_ENST00000437704.2_Missense_Mutation_p.E927K	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	1025					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CAAAGCAACTGAGAGCTTTGC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	82	82			NA	NA	2		NA											NA				198968628		2202	4300	6502	SO:0001583	missense			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896	5334	5334			9063	protein-coding gene	gene with protein product	phospholipase C related, but catalytically inactive protein, protein phosphatase 1, regulatory subunit 127	600597	phospholipase C, epsilon	PLCE	NA	7633416	Standard	NM_006226	NM_006226	NA	Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.3073G>A	2.37:g.198968628G>A	ENSP00000402861:p.Glu1025Lys	NA	Q3MJ90|Q53SD3|Q7Z3S3	37	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031692	0.93575	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.25912	1.77;1.87	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000007	T	0.53158	0.1779	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.987	T	0.52902	-0.8513	9	.	.	.	.	17.572	0.87937	0.0:0.0:1.0:0.0	.	1025;951	Q15111;B4DYZ4	PLCL1_HUMAN;.	K	1025;927	ENSP00000402861:E1025K;ENSP00000414138:E927K	.	E	+	1	0	PLCL1	198676873	1.000000	0.71417	0.967000	0.41034	0.949000	0.60115	8.595000	0.90840	2.679000	0.91253	0.650000	0.86243	GAG	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340210.1		+	ENST00000428675.1	Missense_Mutation	SNP	2 : 198968628 - 198968628 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	298	62
TPCN1	53373	broad.mit.edu	37	12	113698178	113698178	+	Missense_Mutation	SNP	G	G	A	rs138959802	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113698178G>A	ENST00000392569.4	+	0	107				TPCN1_ENST00000335509.6_Missense_Mutation_p.G40S|TPCN1_ENST00000550785.1_Missense_Mutation_p.G112S|TPCN1_ENST00000541517.1_Missense_Mutation_p.G112S			Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	NA						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TGCAGATGGCGGCAGCTATGC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	SER/GLY,SER/GLY	6,4400	11.4+/-27.6	0,6,2197	56	53	54		118,334	3.5	1	12	dbSNP_134	54	0,8600		0,0,4300	yes	missense,missense	TPCN1	NM_017901.4,NM_001143819.1	56,56	0,6,6497	AA,AG,GG	NA	0.0,0.1362,0.0461	benign,benign	40/817,112/889	113698178	6,13000	2203	4300	6503	SO:0001623	5_prime_UTR_variant			AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815	53373	53373		Voltage-gated ion channels / Two-pore channels	18182	protein-coding gene	gene with protein product		609666			NA	10574461, 10753632, 16382101	Standard	NM_017901	XM_005253905	NA	Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000392569.4:c.-87G>A	12.37:g.113698178G>A		NA	A7E258|Q86XS9|Q8NC20	37		.	.	.	.	.	.	.	.	.	.	G	16.31	3.086673	0.55861	0.001362	0.0	ENSG00000186815	ENST00000552642;ENST00000547275;ENST00000552985;ENST00000550873;ENST00000551096;ENST00000335509;ENST00000550785;ENST00000541517	T;T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08	4.38	3.49	0.39957	.	0.294004	0.32608	N	0.005863	T	0.38081	0.1027	M	0.62723	1.935	0.46149	D	0.998893	B;B	0.26081	0.141;0.026	B;B	0.28784	0.094;0.015	T	0.13926	-1.0491	10	0.19590	T	0.45	-17.5962	10.5864	0.45286	0.0896:0.0:0.9104:0.0	.	112;40	Q9ULQ1-3;Q9ULQ1	.;TPC1_HUMAN	S	16;95;126;40;112;40;112;112	ENSP00000447806:G16S;ENSP00000449560:G95S;ENSP00000447569:G126S;ENSP00000447073:G40S;ENSP00000447263:G112S;ENSP00000335300:G40S;ENSP00000448083:G112S;ENSP00000438125:G112S	ENSP00000335300:G40S	G	+	1	0	TPCN1	112182561	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	3.386000	0.52492	1.074000	0.40909	0.591000	0.81541	GGC	TPCN1-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000405159.1		+	ENST00000392569.4	5'UTR	SNP	12 : 113698178 - 113698178 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	279	40
EPN3	55040	broad.mit.edu	37	17	48618173	48618173	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48618173G>A	ENST00000268933.3	+	7	1578	c.999G>A	c.(997-999)gaG>gaA	p.E333E	EPN3_ENST00000541226.1_Missense_Mutation_p.R221K|EPN3_ENST00000537145.1_Silent_p.E361E	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	333	5 X 3 AA repeats of [DE]-P-W.					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CGAACACAGAGGCCAGTGGAT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	58	58			NA	NA	17		NA											NA				48618173		2203	4300	6503	SO:0001819	synonymous_variant			AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283	55040	55040			18235	protein-coding gene	gene with protein product		607264			NA	10951261, 11359770	Standard	NM_017957	NM_017957	NA	Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.999G>A	17.37:g.48618173G>A		NA	A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	37	CCDS11570.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078386	0.36662	.	.	ENSG00000049283	ENST00000541226	T	0.40756	1.02	5.23	2.1	0.27182	.	.	.	.	.	T	0.14960	0.0361	.	.	.	0.23082	N	0.998326	.	.	.	.	.	.	T	0.27938	-1.0059	6	0.06625	T	0.88	-7.9673	1.5035	0.02481	0.2435:0.145:0.4619:0.1496	.	.	.	.	K	221	ENSP00000440540:R221K	ENSP00000440540:R221K	R	+	2	0	EPN3	45973172	0.069000	0.21087	0.996000	0.52242	0.866000	0.49608	0.119000	0.15626	0.216000	0.20781	0.555000	0.69702	AGG	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367573.1		+	ENST00000268933.3	Silent	SNP	17 : 48618173 - 48618173 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	422	72
RC3H2	54542	broad.mit.edu	37	9	125627791	125627791	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125627791G>A	ENST00000373670.1	-	9	2071	c.1471C>T	c.(1471-1473)Cca>Tca	p.P491S	RC3H2_ENST00000357244.2_Missense_Mutation_p.P491S|RC3H2_ENST00000423239.2_Missense_Mutation_p.P491S|RC3H2_ENST00000373665.2_Silent_p.F463F			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	491						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TTTGTACTTGGAACAATTTTC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													186	169	174			NA	NA	9		NA											NA				125627791		1887	4104	5991	SO:0001583	missense			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586	54542	54542		RING-type (C3HC4) zinc fingers, Zinc fingers, CCCH-type domain containing	21461	protein-coding gene	gene with protein product		615231	membrane associated DNA binding protein, ring finger and CCCH-type zinc finger domains 2	MNAB	NA	10938276	Standard	NM_018835	NM_001100588	NA	Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.1471C>T	9.37:g.125627791G>A	ENSP00000362774:p.Pro491Ser	NA	Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	37	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765436	0.69878	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239	T;T;T	0.43294	0.95;0.95;0.96	5.97	4.12	0.48240	.	0.260591	0.38720	N	0.001600	T	0.48333	0.1494	N	0.24115	0.695	0.80722	D	1	D;D	0.67145	0.993;0.996	D;D	0.75484	0.968;0.986	T	0.33979	-0.9847	10	0.24483	T	0.36	-8.3702	14.8346	0.70172	0.0:0.2712:0.7288:0.0	.	491;491	Q9HBD1;Q9HBD1-4	RC3H2_HUMAN;.	S	491;491;362;491	ENSP00000362774:P491S;ENSP00000349783:P491S;ENSP00000411767:P491S	ENSP00000349783:P491S	P	-	1	0	RC3H2	124667612	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.727000	0.47311	0.841000	0.35020	-0.156000	0.13503	CCA	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053966.1		-	ENST00000373670.1	Missense_Mutation	SNP	9 : 125627791 - 125627791 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	454	70
SLC26A5	375611	broad.mit.edu	37	7	103014868	103014868	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103014868G>A	ENST00000306312.3	-	20	2474	c.2213C>T	c.(2212-2214)aCt>aTt	p.T738I	SLC26A5_ENST00000393727.1_Missense_Mutation_p.T740I|SLC26A5_ENST00000393723.1_Missense_Mutation_p.T708I|SLC26A5_ENST00000432958.2_Missense_Mutation_p.T706I|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393729.1_Missense_Mutation_p.T701I|SLC26A5_ENST00000393730.1_Missense_Mutation_p.T706I|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Missense_Mutation_p.T171I	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	738					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						AGTGGCAGGAGTGGCATTGGG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	43	45			NA	NA	7		NA											NA				103014868		2203	4300	6503	SO:0001583	missense			AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615	375611	375611		Solute carriers	9359	protein-coding gene	gene with protein product	deafness, neurosensory, autosomal recessive, 61	604943	prestin (motor protein)	PRES	NA	10821263	Standard	NM_198999	NM_206883	NA	Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.2213C>T	7.37:g.103014868G>A	ENSP00000304783:p.Thr738Ile	NA	Q86UF8|Q86UF9|Q86UG0	37	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509203	0.64522	.	.	ENSG00000170615	ENST00000306312;ENST00000393730;ENST00000432958;ENST00000354356;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D	0.95918	-3.19;-3.19;-3.19;-3.85;-3.12;-3.19;-3.19	5.69	2.68	0.31781	.	0.497940	0.20465	N	0.091816	D	0.87573	0.6211	N	0.08118	0	0.09310	N	1	B;P	0.45348	0.085;0.856	B;B	0.41299	0.039;0.353	T	0.82236	-0.0557	10	0.72032	D	0.01	.	7.3653	0.26770	0.0:0.2418:0.4582:0.3	.	738;706	P58743;Q496J2	S26A5_HUMAN;.	I	738;706;706;171;701;740;708	ENSP00000304783:T738I;ENSP00000377331:T706I;ENSP00000389733:T706I;ENSP00000346325:T171I;ENSP00000377330:T701I;ENSP00000377328:T740I;ENSP00000377324:T708I	ENSP00000304783:T738I	T	-	2	0	SLC26A5	102802104	0.061000	0.20836	0.875000	0.34327	0.735000	0.41995	1.295000	0.33377	1.402000	0.46780	0.454000	0.30748	ACT	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313860.1		-	ENST00000306312.3	Missense_Mutation	SNP	7 : 103014868 - 103014868 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	212	48
TXNL1	9352	broad.mit.edu	37	18	54281785	54281785	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:54281785C>T	ENST00000217515.6	-	6	809	c.605G>A	c.(604-606)cGa>cAa	p.R202Q	TXNL1_ENST00000540155.1_Missense_Mutation_p.R79Q|TXNL1_ENST00000590954.1_Missense_Mutation_p.R202Q	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	202	PITH.				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		ATCCATAGATCGGGGTAGGTT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	97	99			NA	NA	18		NA											NA				54281785		2203	4300	6503	SO:0001583	missense			AF003938	CCDS11961.1	18q21.31	2011-01-17	2004-05-06	2004-05-07	ENSG00000091164	ENSG00000091164	9352	9352			12436	protein-coding gene	gene with protein product	thioredoxin-like, 32kD	603049	thioredoxin-like, 32kDa	TXNL	NA	9473519, 9668102	Standard		NM_004786	NA	Approved	Txl, TRP32	uc002lgg.3	O43396	OTTHUMG00000132722	ENST00000217515.6:c.605G>A	18.37:g.54281785C>T	ENSP00000217515:p.Arg202Gln	NA		37	CCDS11961.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670429	0.67814	.	.	ENSG00000091164	ENST00000217515;ENST00000540155	T	0.16897	2.31	5.61	5.61	0.85477	Proteasome-interacting thioredoxin-like domain, C-terminal (2);Galactose-binding domain-like (1);	0.062472	0.64402	D	0.000003	T	0.21801	0.0525	L	0.51853	1.615	0.80722	D	1	P;P	0.49307	0.575;0.922	B;B	0.43916	0.162;0.436	T	0.01725	-1.1287	10	0.20046	T	0.44	.	19.2387	0.93873	0.0:1.0:0.0:0.0	.	202;202	B2R960;O43396	.;TXNL1_HUMAN	Q	202;79	ENSP00000217515:R202Q	ENSP00000217515:R202Q	R	-	2	0	TXNL1	52432783	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.636000	0.67848	2.621000	0.88768	0.650000	0.86243	CGA	TXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256064.2		-	ENST00000217515.6	Missense_Mutation	SNP	18 : 54281785 - 54281785 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	257	41
NEBL	10529	broad.mit.edu	37	10	21309118	21309118	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:21309118C>T	ENST00000417816.2	-	3	530	c.177G>A	c.(175-177)aaG>aaA	p.K59K	NEBL_ENST00000377159.4_Silent_p.K25K	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN	nebulette	721				RYKEEFKK -> VIKKSLKS (in Ref. 2; AAF24858).	regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGAAGGACTGCTTCGGGTAGT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	0,4406		0,0,2203	97	92	94		177,177	4.3	1	10		94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	NEBL	NM_001173484.1,NM_213569.2	,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,	59/225,59/271	21309118	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114	10529	10529			16932	protein-coding gene	gene with protein product		605491			NA	9733644, 10470015	Standard	NM_006393	NM_213569	NA	Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000417816.2:c.177G>A	10.37:g.21309118C>T		NA	B0YJ45|Q2TBD0|Q9UIC4	37	CCDS7133.1																																																																																			NEBL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047112.1		-	ENST00000417816.2	Silent	SNP	10 : 21309118 - 21309118 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	427	89
BSCL2	26580	broad.mit.edu	37	11	62472966	62472966	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62472966C>T	ENST00000405837.1	-	3	707	c.211G>A	c.(211-213)Gta>Ata	p.V71I	BSCL2_ENST00000433053.1_Missense_Mutation_p.V71I|BSCL2_ENST00000537604.1_5'UTR|BSCL2_ENST00000278893.7_Missense_Mutation_p.V7I|BSCL2_ENST00000407022.3_Missense_Mutation_p.V7I|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000360796.5_Missense_Mutation_p.V71I|BSCL2_ENST00000421906.1_Missense_Mutation_p.V7I|BSCL2_ENST00000403550.1_Missense_Mutation_p.V7I			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	7					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						AAGGCAGGTACTGGAGGGTCG	0.657		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	11		NA											NA				62472966		2202	4299	6501	SO:0001583	missense				CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000	26580	26580			15832	protein-coding gene	gene with protein product		606158	spastic paraplegia 17 (Silver syndrome)	GNG3LG, SPG17	NA	11479539, 14981520	Standard	NM_032667	NM_001122955	NA	Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000405837.1:c.211G>A	11.37:g.62472966C>T	ENSP00000385332:p.Val71Ile	NA	Q567S1|Q96SV1|Q9BSQ0	37		.	.	.	.	.	.	.	.	.	.	C	16.40	3.111980	0.56398	.	.	ENSG00000168000	ENST00000405837;ENST00000433053;ENST00000278893;ENST00000360796;ENST00000403550;ENST00000407022;ENST00000421906;ENST00000448568;ENST00000524862;ENST00000533982;ENST00000532818;ENST00000464544	D;D;D;D;D;D;D;D;D;D	0.90069	-2.57;-2.56;-2.61;-2.56;-2.56;-2.56;-2.56;-2.46;-1.78;-1.69	5.05	3.07	0.35406	.	0.205171	0.30771	U	0.008904	T	0.79375	0.4435	N	0.24115	0.695	0.25326	N	0.989077	B;B;B;B	0.26809	0.16;0.049;0.054;0.02	B;B;B;B	0.21708	0.036;0.023;0.026;0.01	T	0.70745	-0.4788	10	0.72032	D	0.01	-13.0931	7.9172	0.29825	0.1834:0.6397:0.1769:0.0	.	7;7;71;7	Q96G97-3;Q53EN3;G3XAE4;Q96G97	.;.;.;BSCL2_HUMAN	I	71;71;7;71;7;7;7;7;71;7;71;71	ENSP00000385332:V71I;ENSP00000414002:V71I;ENSP00000278893:V7I;ENSP00000354032:V71I;ENSP00000385561:V7I;ENSP00000384080:V7I;ENSP00000413209:V7I;ENSP00000413340:V7I;ENSP00000433888:V71I;ENSP00000434149:V7I	ENSP00000278893:V7I	V	-	1	0	BSCL2	62229542	0.966000	0.33281	0.869000	0.34112	0.925000	0.55904	1.004000	0.29822	0.647000	0.30713	0.462000	0.41574	GTA	BSCL2-001	NOVEL	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000319180.4		-	ENST00000405837.1	Missense_Mutation	SNP	11 : 62472966 - 62472966 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	198	40
EYA1	2138	broad.mit.edu	37	8	72184084	72184084	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72184084G>T	ENST00000340726.3	-	10	1514	c.875C>A	c.(874-876)tCt>tAt	p.S292Y	EYA1_ENST00000388741.2_Missense_Mutation_p.S258Y|EYA1_ENST00000388742.4_Missense_Mutation_p.S292Y|EYA1_ENST00000388740.3_Missense_Mutation_p.S259Y|EYA1_ENST00000419131.1_Missense_Mutation_p.S287Y|EYA1_ENST00000388743.2_Missense_Mutation_p.S291Y|EYA1_ENST00000303824.7_Missense_Mutation_p.S286Y	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	292					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CAATCGATCAGAATCTGAATC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													263	246	252			NA	NA	8		NA											NA				72184084		2203	4300	6503	SO:0001583	missense			AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313	2138	2138		Protein tyrosine phosphatases / Asp-based PTPs	3519	protein-coding gene	gene with protein product		601653	eyes absent (Drosophila) homolog 1, eyes absent homolog 1 (Drosophila)	BOR	NA	9020840	Standard	NM_000503, NM_172060	XM_005251184	NA	Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.875C>A	8.37:g.72184084G>T	ENSP00000342626:p.Ser292Tyr	NA	A6NHQ0|Q0P516	37	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.891954	0.91889	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	5.7	5.7	0.88788	.	0.127359	0.56097	D	0.000031	D	0.86451	0.5936	N	0.24115	0.695	0.80722	D	1	D;D;D;D;D	0.71674	0.996;0.998;0.996;0.996;0.995	D;D;P;D;P	0.75020	0.937;0.985;0.905;0.937;0.834	T	0.80948	-0.1154	10	0.09590	T	0.72	-6.9874	19.8344	0.96650	0.0:0.0:1.0:0.0	.	286;219;259;292;287	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	Y	292;292;260;259;286;258;291;287	ENSP00000373394:S292Y;ENSP00000342626:S292Y;ENSP00000373392:S259Y;ENSP00000303221:S286Y;ENSP00000373393:S258Y;ENSP00000373395:S291Y;ENSP00000410176:S287Y	ENSP00000303221:S286Y	S	-	2	0	EYA1	72346638	1.000000	0.71417	0.921000	0.36526	0.997000	0.91878	9.272000	0.95707	2.696000	0.92011	0.561000	0.74099	TCT	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313788.2		-	ENST00000340726.3	Missense_Mutation	SNP	8 : 72184084 - 72184084 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1396	245
SIAH2	6478	broad.mit.edu	37	3	150460414	150460414	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150460414G>A	ENST00000312960.3	-	2	1016	c.489C>T	c.(487-489)taC>taT	p.Y163Y		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	163	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AGTAGGGACGGTATTCACATA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	102	108			NA	NA	3		NA											NA				150460414		2203	4300	6503	SO:0001819	synonymous_variant			U76248	CCDS3152.1	3q25	2012-02-23	2012-02-23		ENSG00000181788	ENSG00000181788	6478	6478	6.3.2.1		10858	protein-coding gene	gene with protein product		602213	seven in absentia (Drosophila) homolog 2, seven in absentia homolog 2 (Drosophila)		NA	9334332	Standard	NM_005067	NM_005067	NA	Approved		uc003eyi.3	O43255	OTTHUMG00000159847	ENST00000312960.3:c.489C>T	3.37:g.150460414G>A		NA	O43270	37	CCDS3152.1																																																																																			SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357697.1		-	ENST00000312960.3	Silent	SNP	3 : 150460414 - 150460414 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	367	69
SKI	6497	broad.mit.edu	37	1	2160910	2160910	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2160910G>T	ENST00000378536.4	+	1	777	c.705G>T	c.(703-705)gaG>gaT	p.E235D		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	235					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		TGGTGCCCGAGCTCTACAGCA	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(177;144 1678 13697 20086 27838 40755)							NA				0													16	20	18			NA	NA	1		NA											NA				2160910		2188	4280	6468	SO:0001583	missense			X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933	6497	6497		SKI transcriptional corepressors	10896	protein-coding gene	gene with protein product		164780	v-ski avian sarcoma viral oncogene homolog		NA	2762147	Standard	NM_003036	NM_003036	NA	Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.705G>T	1.37:g.2160910G>T	ENSP00000367797:p.Glu235Asp	NA	Q5SYT7	37	CCDS39.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559203	0.65538	.	.	ENSG00000157933	ENST00000378536	D	0.96200	-3.94	4.3	4.3	0.51218	SAND domain-like (2);c-SKI Smad4-binding (1);	0.061228	0.64402	D	0.000004	D	0.96636	0.8902	M	0.64997	1.995	0.54753	D	0.999982	D	0.71674	0.998	D	0.67103	0.949	D	0.95726	0.8770	10	0.30078	T	0.28	-21.7522	15.7222	0.77721	0.0:0.0:1.0:0.0	.	235	P12755	SKI_HUMAN	D	235	ENSP00000367797:E235D	ENSP00000367797:E235D	E	+	3	2	SKI	2150770	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.335000	0.72949	1.934000	0.56057	0.393000	0.25936	GAG	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000004070.1		+	ENST00000378536.4	Missense_Mutation	SNP	1 : 2160910 - 2160910 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	171	44
CRYGC	1420	broad.mit.edu	37	2	208994239	208994239	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:208994239G>A	ENST00000282141.3	-	2	215	c.178C>T	c.(178-180)Cga>Tga	p.R60*		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	60	Beta/gamma crystallin 'Greek key' 2.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		TACTCCCCTCGCCGCAGCAAG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	74	72			NA	NA	2		NA											NA				208994239		2203	4300	6503	SO:0001587	stop_gained				CCDS2379.1	2q33.3	2013-02-14			ENSG00000163254	ENSG00000163254	1420	1420			2410	protein-coding gene	gene with protein product		123680		CRYG3	NA		Standard	NM_020989	NM_020989	NA	Approved		uc002vco.4	P07315	OTTHUMG00000132942	ENST00000282141.3:c.178C>T	2.37:g.208994239G>A	ENSP00000282141:p.Arg60*	NA	Q53R50	37	CCDS2379.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067463	0.55539	.	.	ENSG00000163254	ENST00000282141	.	.	.	4.98	1.9	0.25705	.	0.230620	0.30575	N	0.009330	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9314	0.63998	0.0:0.0:0.5404:0.4596	.	.	.	.	X	60	.	ENSP00000282141:R60X	R	-	1	2	CRYGC	208702484	0.000000	0.05858	0.987000	0.45799	0.293000	0.27360	0.281000	0.18810	0.211000	0.20683	-2.048000	0.00412	CGA	CRYGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256474.1		-	ENST00000282141.3	Nonsense_Mutation	SNP	2 : 208994239 - 208994239 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	768	212
EIF4A3	9775	broad.mit.edu	37	17	78120716	78120716	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78120716C>T	ENST00000269349.3	-	1	266	c.45G>A	c.(43-45)aaG>aaA	p.K15K		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	15					mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			TGAGCAGCCGCTTTCGCGCCG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	30	32			NA	NA	17		NA											NA				78120716		2203	4295	6498	SO:0001819	synonymous_variant			BC004386	CCDS11767.1	17q25.3	2010-02-10	2010-02-10	2006-11-27		ENSG00000141543	9775	9775		DEAD-boxes	18683	protein-coding gene	gene with protein product		608546	DEAD (Asp-Glu-Ala-Asp) box polypeptide 48, eukaryotic translation initiation factor 4A, isoform 3	DDX48	NA	10623621, 14730019	Standard	NM_014740	NM_014740	NA	Approved	KIAA0111, EIF4AIII	uc002jxs.3	P38919		ENST00000269349.3:c.45G>A	17.37:g.78120716C>T		NA	Q15033|Q6IBQ2|Q96A18	37	CCDS11767.1																																																																																			EIF4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437446.1		-	ENST00000269349.3	Silent	SNP	17 : 78120716 - 78120716 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	71
CSMD3	114788	broad.mit.edu	37	8	113246693	113246693	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113246693G>A	ENST00000297405.5	-	68	10885	c.10641C>T	c.(10639-10641)agC>agT	p.S3547S	CSMD3_ENST00000455883.2_Silent_p.S3378S|CSMD3_ENST00000352409.3_Silent_p.S3477S|CSMD3_ENST00000343508.3_Silent_p.S3507S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3547						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAGCTTCCTGGCTTTTATATA	0.323		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	137	138			NA	NA	8		NA											NA				113246693		2203	4299	6502	SO:0001819	synonymous_variant			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796	114788	114788			19291	protein-coding gene	gene with protein product		608399			NA		Standard	NM_052900	NM_052900	NA	Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10641C>T	8.37:g.113246693G>A		NA	Q96PZ3	37	CCDS6315.1																																																																																			CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347141.1		-	ENST00000297405.5	Silent	SNP	8 : 113246693 - 113246693 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	601	110
NES	10763	broad.mit.edu	37	1	156641406	156641406	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156641406C>T	ENST00000368223.3	-	4	2706	c.2574G>A	c.(2572-2574)ggG>ggA	p.G858G		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	858	Tail.			QGAMNPLEKEIQEPLESVEVNQETFRLLEEENQESLRSLGA WNLENLRSPEE -> KSGGNESSRKGNSRTTGVCGSEPRDI QTPGRGESGIIEISGSMEPGEFEISRG (in Ref. 1; CAA46780).	brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GATTCATTGCCCCCTGATTTA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	107	107			NA	NA	1		NA											NA				156641406		2203	4300	6503	SO:0001819	synonymous_variant			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688	10763	10763		Intermediate filaments type IV	7756	protein-coding gene	gene with protein product		600915			NA	1478958, 9104587	Standard	NM_006617	NM_006617	NA	Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.2574G>A	1.37:g.156641406C>T		NA	O00552|Q3LIF5|Q5SYZ6	37	CCDS1151.1																																																																																			NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000082844.2		-	ENST00000368223.3	Silent	SNP	1 : 156641406 - 156641406 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	696	63
PHLDB2	90102	broad.mit.edu	37	3	111603011	111603011	+	Silent	SNP	C	C	T	rs147548065	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111603011C>T	ENST00000431670.2	+	2	498	c.87C>T	c.(85-87)aaC>aaT	p.N29N	PHLDB2_ENST00000393925.3_Silent_p.N29N|PHLDB2_ENST00000478922.1_Silent_p.N29N|PHLDB2_ENST00000412622.1_Silent_p.N29N|PHLDB2_ENST00000477695.1_Silent_p.N29N|PHLDB2_ENST00000393923.3_Silent_p.N56N|PHLDB2_ENST00000481953.1_Silent_p.N29N	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	29						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CTGTTGAGAACGATTCCCAAA	0.413		NA											C	1	5e-04	NA	NA	2184	NA	0.9999	,	,	NA	2e-04	0.0013	NA	NA	5e-04	0.9135	LOWCOV,EXOME	NA	NA	8e-04	SNP								NA				0													155	157	156			NA	NA	3		NA											NA				111603011		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824	90102	90102		Pleckstrin homology (PH) domain containing	29573	protein-coding gene	gene with protein product		610298			NA	12376540	Standard	NM_145753	NM_145753	NA	Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.87C>T	3.37:g.111603011C>T		NA	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	37	CCDS46886.1																																																																																			PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354337.1		+	ENST00000431670.2	Silent	SNP	3 : 111603011 - 111603011 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	939	145
MLK4	0	broad.mit.edu	37	1	233514763	233514763	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233514763G>A	ENST00000366624.3	+	9	2272	c.2011G>A	c.(2011-2013)Gat>Aat	p.D671N	MLK4_ENST00000366622.1_Missense_Mutation_p.D117N	NM_032435.2	NP_115811.2				NA											NA						GGCCTACATTGATCTACCTCT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	71	69			NA	NA	1		NA											NA				233514763		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000366624.3:c.2011G>A	1.37:g.233514763G>A	ENSP00000355583:p.Asp671Asn	NA		37	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	G	9.535	1.111901	0.20714	.	.	ENSG00000143674	ENST00000366624;ENST00000366622	T;T	0.28895	1.59;1.59	4.95	4.95	0.65309	.	0.136762	0.48286	D	0.000184	T	0.21103	0.0508	L	0.38175	1.15	0.32047	N	0.59739	P;B	0.50272	0.933;0.004	P;B	0.45406	0.479;0.005	T	0.10474	-1.0628	10	0.02654	T	1	.	7.3576	0.26727	0.0905:0.0:0.7397:0.1697	.	118;671	Q5TCX8-3;Q5TCX8	.;M3KL4_HUMAN	N	671;117	ENSP00000355583:D671N;ENSP00000355581:D117N	ENSP00000355581:D117N	D	+	1	0	RP5-862P8.2	231581386	1.000000	0.71417	0.880000	0.34516	0.951000	0.60555	4.696000	0.61774	2.575000	0.86900	0.655000	0.94253	GAT	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092495.1		+	ENST00000366624.3	Missense_Mutation	SNP	1 : 233514763 - 233514763 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	517	37
SNX5	27131	broad.mit.edu	37	20	17923780	17923780	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:17923780A>C	ENST00000377768.3	-	13	1450	c.1138T>G	c.(1138-1140)Tct>Gct	p.S380A	SNX5_ENST00000377759.4_Missense_Mutation_p.S380A|SNX5_ENST00000483485.1_5'UTR	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	380	BAR.				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						TCCAGTTCAGACATTTCAATT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	183	177			NA	NA	20		NA											NA				17923780		2203	4300	6503	SO:0001583	missense			AF121855	CCDS13130.1	20p11	2008-05-22			ENSG00000089006	ENSG00000089006	27131	27131		Sorting nexins	14969	protein-coding gene	gene with protein product		605937			NA	10600472, 17148574	Standard		NM_152227	NA	Approved		uc002wqc.3	Q9Y5X3	OTTHUMG00000031953	ENST00000377768.3:c.1138T>G	20.37:g.17923780A>C	ENSP00000366998:p.Ser380Ala	NA	B7ZKN3|D3DW26|Q52LC4|Q9BWP0	37	CCDS13130.1	.	.	.	.	.	.	.	.	.	.	A	3.231	-0.157421	0.06544	.	.	ENSG00000089006	ENST00000377768;ENST00000377759	T;T	0.58060	0.36;0.36	5.49	5.49	0.81192	.	0.152923	0.64402	D	0.000014	T	0.11836	0.0288	N	0.00112	-2.095	0.35452	D	0.795741	B	0.02656	0.0	B	0.04013	0.001	T	0.37150	-0.9718	10	0.02654	T	1	-23.815	6.325	0.21239	0.6166:0.1465:0.0:0.2369	.	380	Q9Y5X3	SNX5_HUMAN	A	380	ENSP00000366998:S380A;ENSP00000366988:S380A	ENSP00000366988:S380A	S	-	1	0	SNX5	17871780	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.365000	0.44196	2.207000	0.71202	0.533000	0.62120	TCT	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078137.4		-	ENST00000377768.3	Missense_Mutation	SNP	20 : 17923780 - 17923780 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1161	238
KANSL1	284058	broad.mit.edu	37	17	44143920	44143920	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44143920C>T	ENST00000575318.1	-	5	1864	c.1831G>A	c.(1831-1833)Gtt>Att	p.V611I	KANSL1_ENST00000262419.6_Missense_Mutation_p.V611I|KANSL1_ENST00000572904.1_Missense_Mutation_p.V611I|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000432791.1_Missense_Mutation_p.V611I|KANSL1_ENST00000574590.1_Missense_Mutation_p.V611I			Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	611						MLL1 complex	protein binding				NA						GAAAGAGGAACGATGCTGTTG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	83	68	73		1831,1831,1831	2.9	0.8	17		73	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	KIAA1267	NM_001193465.1,NM_001193466.1,NM_015443.3	29,29,29	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign,benign,benign	611/1105,611/1106,611/1106	44143920	1,13005	2203	4300	6503	SO:0001583	missense			BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071	284058	284058			24565	protein-coding gene	gene with protein product	centromere protein 36	612452	KIAA1267	KIAA1267	NA	10574462	Standard	NM_015443	NM_015443	NA	Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000575318.1:c.1831G>A	17.37:g.44143920C>T	ENSP00000461299:p.Val611Ile	NA	A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	37		.	.	.	.	.	.	.	.	.	.	C	6.717	0.500917	0.12822	0.0	1.16E-4	ENSG00000120071	ENST00000262419;ENST00000432791	T;T	0.12039	2.72;2.72	5.03	2.9	0.33743	.	0.412793	0.25363	N	0.031216	T	0.07954	0.0199	L	0.36672	1.1	0.49483	D	0.999794	P;B	0.37398	0.593;0.422	B;B	0.32393	0.09;0.145	T	0.30534	-0.9975	10	0.22706	T	0.39	-2.6663	4.74	0.13008	0.0:0.6275:0.18:0.1925	.	611;611	C9JHY2;Q7Z3B3	.;K1267_HUMAN	I	611	ENSP00000262419:V611I;ENSP00000387393:V611I	ENSP00000262419:V611I	V	-	1	0	KIAA1267	41499742	0.359000	0.24955	0.789000	0.31954	0.512000	0.34134	0.686000	0.25392	1.108000	0.41662	-0.266000	0.10368	GTT	KANSL1-006	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000440272.1		-	ENST00000575318.1	Missense_Mutation	SNP	17 : 44143920 - 44143920 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	236	35
GNAS	2778	broad.mit.edu	37	20	57429152	57429152	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57429152C>T	ENST00000371100.4	+	1	1384	c.832C>T	c.(832-834)Cca>Tca	p.P278S	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000306120.3_Silent_p.S214S|GNAS_ENST00000371099.2_Missense_Mutation_p.P278S|GNAS_ENST00000371102.4_Missense_Mutation_p.P278S|GNAS_ENST00000313949.7_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCTCTGGGTCCCAGGCGCCAT	0.667		NA	Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism, type IA			TSP Lung(22;0.16)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(117;935 1597 6045 8307 46442)		Dom	yes		20	20q13.2	2778	guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1	yes	E	0													13	15	14			NA	NA	20		NA											NA				57429152		1846	4021	5867	SO:0001583	missense			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460	2778	2778			4392	protein-coding gene	gene with protein product	secretogranin VI	139320	guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1	GNAS1	NA		Standard	NM_000516	NM_000516	NA	Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.832C>T	20.37:g.57429152C>T	ENSP00000360141:p.Pro278Ser	NA	E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	37	CCDS46622.1	.	.	.	.	.	.	.	.	.	.	C	5.717	0.316749	0.10845	.	.	ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102	D;D	0.88354	-2.37;-2.37	4.03	1.02	0.19986	.	3.592490	0.01353	N	0.011966	T	0.80592	0.4652	N	0.19112	0.55	0.49051	D	0.999745	B	0.20550	0.046	B	0.12156	0.007	T	0.63497	-0.6624	9	.	.	.	.	6.0166	0.19607	0.0:0.6647:0.0:0.3353	.	278	Q5JWF2	GNAS1_HUMAN	S	278	ENSP00000360141:P278S;ENSP00000360143:P278S	.	P	+	1	0	GNAS	56862547	0.381000	0.25140	0.288000	0.24862	0.073000	0.16967	0.624000	0.24462	0.270000	0.21984	0.561000	0.74099	CCA	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080417.3		+	ENST00000371100.4	Missense_Mutation	SNP	20 : 57429152 - 57429152 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	177	27
UBXN4	23190	broad.mit.edu	37	2	136533888	136533888	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136533888T>G	ENST00000272638.9	+	10	1331	c.1020T>G	c.(1018-1020)gcT>gcG	p.A340A	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	340	UBX.				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						CTTCTGATGCTCCTCTAGAAG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	110	114			NA	NA	2		NA											NA				136533888		1838	4092	5930	SO:0001819	synonymous_variant			D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224	23190	23190		UBX domain containing	14860	protein-coding gene	gene with protein product	erasin	611216	UBX domain-containing 2, UBX domain containing 2	UBXDC1, UBXD2	NA	16968747	Standard	NM_014607	NM_014607	NA	Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.1020T>G	2.37:g.136533888T>G		NA	A8K9W4|Q4ZG56|Q8IYM5	37	CCDS42761.1																																																																																			UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331696.1		+	ENST00000272638.9	Silent	SNP	2 : 136533888 - 136533888 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	88
C2CD3	26005	broad.mit.edu	37	11	73803472	73803472	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73803472T>C	ENST00000313663.7	-	19	3732	c.3506A>G	c.(3505-3507)aAc>aGc	p.N1169S	C2CD3_ENST00000334126.7_Missense_Mutation_p.N1169S	NM_015531.4	NP_056346.3	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1169	C2 1.					centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TGATGACTGGTTCCTCAATTC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	121	123			NA	NA	11		NA											NA				73803472		2200	4293	6493	SO:0001583	missense			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014	26005	26005			24564	protein-coding gene	gene with protein product		615944			NA		Standard	NM_015531	XM_005273897	NA	Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000313663.7:c.3506A>G	11.37:g.73803472T>C	ENSP00000323339:p.Asn1169Ser	NA	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	37	CCDS31636.1	.	.	.	.	.	.	.	.	.	.	T	1.677	-0.507468	0.04231	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.08546	3.08;3.08	5.4	1.74	0.24563	.	0.660446	0.16439	N	0.214374	T	0.02012	0.0063	N	0.02011	-0.69	0.24298	N	0.995133	B	0.02656	0.0	B	0.04013	0.001	T	0.43163	-0.9408	10	0.06365	T	0.9	-7.8523	1.3094	0.02094	0.123:0.1822:0.2526:0.4423	.	1169	Q4AC94-1	.	S	1169	ENSP00000334379:N1169S;ENSP00000323339:N1169S	ENSP00000323339:N1169S	N	-	2	0	C2CD3	73481120	0.998000	0.40836	0.954000	0.39281	0.890000	0.51754	0.780000	0.26760	0.333000	0.23563	0.363000	0.22086	AAC	C2CD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398210.1		-	ENST00000313663.7	Missense_Mutation	SNP	11 : 73803472 - 73803472 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	692	158
ZMYND8	23613	broad.mit.edu	37	20	45849995	45849995	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45849995C>T	ENST00000458360.2	-	19	2980	c.2931G>A	c.(2929-2931)acG>acA	p.T977T	ZMYND8_ENST00000360911.3_Silent_p.T1058T|ZMYND8_ENST00000262975.4_Silent_p.T1063T|ZMYND8_ENST00000536340.1_Silent_p.T1136T|ZMYND8_ENST00000355972.4_Silent_p.T1109T|ZMYND8_ENST00000372023.3_Silent_p.T1031T|ZMYND8_ENST00000352431.2_Silent_p.T1083T|ZMYND8_ENST00000446994.2_Silent_p.T1000T|ZMYND8_ENST00000471951.2_Silent_p.T1129T|ZMYND8_ENST00000396281.4_Silent_p.T1109T|ZMYND8_ENST00000311275.7_Silent_p.T1109T|ZMYND8_ENST00000540497.1_Silent_p.T1057T|ZMYND8_ENST00000461685.1_Silent_p.T1083T	NM_001281771.1	NP_001268700.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1109							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TCTCAGCTGACGTCTCCTTCT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	106	115			NA	NA	20		NA											NA				45849995		2203	4300	6503	SO:0001819	synonymous_variant			U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040	23613	23613		Zinc fingers, MYND-type, Zinc fingers, PHD-type	9397	protein-coding gene	gene with protein product		615713	protein kinase C binding protein 1	PRKCBP1	NA		Standard	NM_183047	NM_001281769	NA	Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000458360.2:c.2931G>A	20.37:g.45849995C>T		NA	B7Z680|E1P5U5|Q13517|Q2HXV2|Q2HXV8|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	37		.	.	.	.	.	.	.	.	.	.	C	0.065	-1.214812	0.01555	.	.	ENSG00000101040	ENST00000467200	.	.	.	5.73	-11.5	0.00074	.	.	.	.	.	T	0.12987	0.0315	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.08576	-1.0715	4	.	.	.	-5.7982	1.1673	0.01818	0.1808:0.2182:0.1965:0.4045	.	.	.	.	I	991	.	.	V	-	1	0	ZMYND8	45283402	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-3.175000	0.00571	-2.813000	0.00347	-2.259000	0.00280	GTC	ZMYND8-011	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000354388.1		-	ENST00000458360.2	Silent	SNP	20 : 45849995 - 45849995 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	452	88
LOXL4	84171	broad.mit.edu	37	10	100015438	100015438	+	Missense_Mutation	SNP	C	C	T	rs139275517		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100015438C>T	ENST00000260702.3	-	10	1637	c.1487G>A	c.(1486-1488)cGc>cAc	p.R496H	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	496	SRCR 4.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GCCTGAGCAGCGCACCCCACT	0.662		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	69	65	67		1487	2.4	1	10	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	no	missense	LOXL4	NM_032211.6	29	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign	496/757	100015438	1,13005	2203	4300	6503	SO:0001583	missense			AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131	84171	84171			17171	protein-coding gene	gene with protein product		607318			NA	11292829	Standard	NM_032211	XM_005270216	NA	Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.1487G>A	10.37:g.100015438C>T	ENSP00000260702:p.Arg496His	NA	Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	37	CCDS7473.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023928	0.54683	0.0	1.16E-4	ENSG00000138131	ENST00000260702	T	0.36699	1.24	5.25	2.36	0.29203	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.191629	0.56097	N	0.000024	T	0.24928	0.0605	L	0.35487	1.065	0.38850	D	0.956265	B	0.12630	0.006	B	0.14023	0.01	T	0.07252	-1.0782	10	0.27785	T	0.31	.	9.7114	0.40247	0.0:0.7701:0.0:0.2299	.	496	Q96JB6	LOXL4_HUMAN	H	496	ENSP00000260702:R496H	ENSP00000260702:R496H	R	-	2	0	LOXL4	100005428	0.938000	0.31826	0.998000	0.56505	0.994000	0.84299	0.146000	0.16180	0.211000	0.20683	0.561000	0.74099	CGC	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049766.1		-	ENST00000260702.3	Missense_Mutation	SNP	10 : 100015438 - 100015438 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	521	43
XIRP1	165904	broad.mit.edu	37	3	39229727	39229727	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39229727G>A	ENST00000340369.3	-	2	1438	c.1210C>T	c.(1210-1212)Cga>Tga	p.R404*	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Nonsense_Mutation_p.R404*	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	404							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGATCCACTCGCTGTAGGTGA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	145	145			NA	NA	3		NA											NA				39229727		2203	4300	6503	SO:0001587	stop_gained			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334	165904	165904			14301	protein-coding gene	gene with protein product		609777	cardiomyopathy associated 1	CMYA1	NA	12203715, 15454575	Standard	XM_093522	NM_001198621	NA	Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.1210C>T	3.37:g.39229727G>A	ENSP00000343140:p.Arg404*	NA	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	37	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	39	7.305397	0.98200	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	.	.	.	5.17	4.27	0.50696	.	0.118422	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	10.9849	0.47516	0.0:0.0:0.6612:0.3388	.	.	.	.	X	404	.	ENSP00000343140:R404X	R	-	1	2	XIRP1	39204731	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.495000	0.66912	1.279000	0.44446	0.655000	0.94253	CGA	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254065.1		-	ENST00000340369.3	Nonsense_Mutation	SNP	3 : 39229727 - 39229727 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1316	56
UBAP2	55833	broad.mit.edu	37	9	34017072	34017072	+	Silent	SNP	C	C	T	rs147991027		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34017072C>T	ENST00000379238.1	-	2	192	c.75G>A	c.(73-75)acG>acA	p.T25T	UBAP2_ENST00000539807.1_5'UTR|UBAP2_ENST00000418786.2_Silent_p.T25T|UBAP2_ENST00000379239.4_Intron|UBAP2_ENST00000480885.1_5'UTR|UBAP2_ENST00000360802.1_Silent_p.T25T|UBAP2_ENST00000449054.1_Silent_p.T25T			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	25										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TCTGTGGTTGCGTTGATTGTG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	145	123	130		75	3.5	0.6	9	dbSNP_134	130	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	UBAP2	NM_018449.2		0,2,6501	TT,TC,CC	NA	0.0233,0.0,0.0154		25/1120	34017072	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073	55833	55833			14185	protein-coding gene	gene with protein product					NA	8871400	Standard	NM_018449	NM_018449	NA	Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.75G>A	9.37:g.34017072C>T		NA	Q2M2R4|Q6PK34|Q8NC94|Q9P237	37	CCDS6547.1																																																																																			UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000001071.1		-	ENST00000379238.1	Silent	SNP	9 : 34017072 - 34017072 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	472	43
PLEKHG1	57480	broad.mit.edu	37	6	151144795	151144795	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151144795G>T	ENST00000358517.2	+	14	1664	c.1453G>T	c.(1453-1455)Gca>Tca	p.A485S	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.A485S			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	485					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TTCAGAAACAGCACAAGACAT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	86	87			NA	NA	6		NA											NA				151144795		2202	4299	6501	SO:0001583	missense			AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278	57480	57480		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	20884	protein-coding gene	gene with protein product					NA	10574462	Standard		XM_005267064	NA	Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.1453G>T	6.37:g.151144795G>T	ENSP00000351318:p.Ala485Ser	NA	Q5T1F2	37	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	G	4.945	0.175556	0.09391	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.58506	0.33;0.33	5.42	-4.03	0.04021	.	1.159500	0.06084	N	0.662442	T	0.06371	0.0164	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.14012	0.0;0.009;0.009	B;B;B	0.12156	0.002;0.007;0.007	T	0.11966	-1.0566	10	0.10111	T	0.7	.	5.5225	0.16941	0.4835:0.0:0.3012:0.2153	.	292;485;485	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	S	485	ENSP00000356297:A485S;ENSP00000351318:A485S	ENSP00000351318:A485S	A	+	1	0	PLEKHG1	151186488	0.000000	0.05858	0.046000	0.18839	0.959000	0.62525	-0.132000	0.10467	-0.714000	0.04975	-0.140000	0.14226	GCA	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042691.1		+	ENST00000358517.2	Missense_Mutation	SNP	6 : 151144795 - 151144795 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	35
CDK4	1019	broad.mit.edu	37	12	58145073	58145073	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58145073G>T	ENST00000257904.6	-	3	636	c.271C>A	c.(271-273)Ctg>Atg	p.L91M	CDK4_ENST00000312990.6_Intron|CDK4_ENST00000549606.1_Intron|CDK4_ENST00000551888.1_Intron|CDK4_ENST00000540325.1_Intron	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	91	Protein kinase.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			TCAAACACCAGGGTTACCTTG	0.532		NA	Mis			melanoma			Hereditary Melanoma					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Dom		Familial malignant melanoma	12	12q14	1019	cyclin-dependent kinase 4		E	0													182	153	163			NA	NA	12		NA											NA				58145073		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Familial Atypical Multiple Mole Melanoma sydrome, FAMMM, Familial Dysplastic Nevus syndrome	M14505	CCDS8953.1	12q13	2014-09-17				ENSG00000135446	1019	1019		Cyclin-dependent kinases	1773	protein-coding gene	gene with protein product		123829			NA	8275715	Standard	NM_000075	NM_000075	NA	Approved	PSK-J3	uc001spv.3	P11802		ENST00000257904.6:c.271C>A	12.37:g.58145073G>T	ENSP00000257904:p.Leu91Met	NA	O00576|Q6FG61	37	CCDS8953.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.235278	0.58886	.	.	ENSG00000135446	ENST00000257904;ENST00000546489;ENST00000547281;ENST00000551800;ENST00000552254;ENST00000552388;ENST00000552862	T;T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;1.69;1.69;1.69	4.92	3.03	0.35002	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000011	T	0.56863	0.2014	L	0.41236	1.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57300	-0.7835	10	0.72032	D	0.01	.	3.6756	0.08291	0.2819:0.0:0.5468:0.1713	.	91	P11802	CDK4_HUMAN	M	91;17;17;17;91;91;91	ENSP00000257904:L91M;ENSP00000447779:L17M;ENSP00000447274:L17M;ENSP00000449391:L17M;ENSP00000449179:L91M;ENSP00000448963:L91M;ENSP00000446763:L91M	ENSP00000257904:L91M	L	-	1	2	CDK4	56431340	0.971000	0.33674	1.000000	0.80357	0.982000	0.71751	1.644000	0.37228	0.741000	0.32674	-0.253000	0.11424	CTG	CDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408790.2		-	ENST00000257904.6	Missense_Mutation	SNP	12 : 58145073 - 58145073 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	696	124
MAP10	54627	broad.mit.edu	37	1	232943054	232943054	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232943054G>T	ENST00000418460.1	+	1	2412	c.2285G>T	c.(2284-2286)aGt>aTt	p.S762I		NM_019090.2	NP_061963.2			microtubule-associated protein 10	NA											NA						GAAGTTGTGAGTCCTGCAAAT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	84	83			NA	NA	1		NA											NA				232943054		1829	4073	5902	SO:0001583	missense			AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916	54627	54627			29265	protein-coding gene	gene with protein product	microtubule regulator 120 KDa		KIAA1383	KIAA1383	NA	23264731	Standard	NM_019090	NM_019090	NA	Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.2285G>T	1.37:g.232943054G>T	ENSP00000403208:p.Ser762Ile	NA		37	CCDS44334.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.345858	0.24426	.	.	ENSG00000212916	ENST00000418460	.	.	.	5.78	2.88	0.33553	.	0.311639	0.22688	U	0.056857	T	0.36608	0.0973	L	0.56769	1.78	0.09310	N	1	P	0.40875	0.731	B	0.38264	0.269	T	0.26360	-1.0105	9	0.56958	D	0.05	-2.8055	8.6023	0.33751	0.2529:0.0:0.7471:0.0	.	620	Q9P2G4	K1383_HUMAN	I	762	.	ENSP00000403208:S762I	S	+	2	0	KIAA1383	231009677	0.000000	0.05858	0.162000	0.22713	0.298000	0.27526	0.120000	0.15647	0.906000	0.36621	-0.216000	0.12614	AGT	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092317.3		+	ENST00000418460.1	Missense_Mutation	SNP	1 : 232943054 - 232943054 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	536	82
F5	2153	broad.mit.edu	37	1	169524465	169524465	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169524465T>G	ENST00000367796.3	-	7	1274	c.1073A>C	c.(1072-1074)gAa>gCa	p.E358A	F5_ENST00000546081.1_Missense_Mutation_p.E221A|F5_ENST00000367797.3_Missense_Mutation_p.E358A			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	358	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CCAAATGACTTCCTCTGCAGC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													221	200	207			NA	NA	1		NA											NA				169524465		2203	4300	6503	SO:0001583	missense			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734	2153	2153			3542	protein-coding gene	gene with protein product		612309			NA		Standard	NM_000130	NM_000130	NA	Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367796.3:c.1073A>C	1.37:g.169524465T>G	ENSP00000356770:p.Glu358Ala	NA	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	37		.	.	.	.	.	.	.	.	.	.	T	26.6	4.752544	0.89753	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	D;D;D	0.99186	-5.53;-5.53;-5.53	5.6	5.6	0.85130	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99393	0.9786	M	0.91459	3.21	0.41728	D	0.989546	D	0.89917	1.0	D	0.74674	0.984	D	0.98686	1.0694	9	0.87932	D	0	-24.1444	15.8288	0.78736	0.0:0.0:0.0:1.0	.	358	P12259	FA5_HUMAN	A	358;358;221	ENSP00000356771:E358A;ENSP00000356770:E358A;ENSP00000439664:E221A	ENSP00000356770:E358A	E	-	2	0	F5	167791089	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.238000	0.78173	2.144000	0.66660	0.524000	0.50904	GAA	F5-002	NOVEL	not_organism_supported|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000083713.1		-	ENST00000367796.3	Missense_Mutation	SNP	1 : 169524465 - 169524465 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	792	136
LILRB5	10990	broad.mit.edu	37	19	54759962	54759962	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54759962C>A	ENST00000316219.5	-	4	706	c.599G>T	c.(598-600)aGg>aTg	p.R200M	LILRB5_ENST00000449561.2_Missense_Mutation_p.R200M|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000450632.1_Missense_Mutation_p.R191M	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	200	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGGGTTTTTCCTGTAATAGTA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	64	61			NA	NA	19		NA											NA				54759962		2203	4300	6503	SO:0001583	missense			AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609	NA	10990		Leukocyte immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	6609	protein-coding gene	gene with protein product		604814			NA	9548455	Standard		NM_006840	NA	Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.599G>T	19.37:g.54759962C>A	ENSP00000320390:p.Arg200Met	NA	Q8N760	37	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.371914	0.42003	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561	T;T;T	0.00768	5.72;5.72;5.72	3.25	0.989	0.19802	Immunoglobulin-like fold (1);	1.747240	0.03172	N	0.170856	T	0.04227	0.0117	M	0.84948	2.725	0.09310	N	1	D;D;D	0.76494	0.981;0.999;0.999	P;D;D	0.66847	0.783;0.932;0.947	T	0.27054	-1.0085	10	0.44086	T	0.13	.	4.4133	0.11443	0.0:0.6292:0.2346:0.1362	.	191;200;200	C9JMK7;O75023-3;O75023	.;.;LIRB5_HUMAN	M	200;191;200	ENSP00000320390:R200M;ENSP00000414225:R191M;ENSP00000406478:R200M	ENSP00000320390:R200M	R	-	2	0	LILRB5	59451774	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.499000	0.06413	0.190000	0.20209	0.446000	0.29264	AGG	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000142877.2		-	ENST00000316219.5	Missense_Mutation	SNP	19 : 54759962 - 54759962 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	429	73
ZNF33A	7581	broad.mit.edu	37	10	38344716	38344716	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38344716G>A	ENST00000374618.3	+	5	1842	c.1664G>A	c.(1663-1665)tGt>tAt	p.C555Y	ZNF33A_ENST00000458705.2_Missense_Mutation_p.C554Y|ZNF33A_ENST00000307441.9_Missense_Mutation_p.C554Y|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Missense_Mutation_p.C561Y	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	554						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CCCTTTGCATGTCCCGAATGT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	103	103			NA	NA	10		NA											NA				38344716		2203	4300	6503	SO:0001583	missense			D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180	7581	7581		Zinc fingers, C2H2-type, -	13096	protein-coding gene	gene with protein product	zinc finger and ZAK associated protein with KRAB domain	194521	zinc finger protein 33a (KOX 31), zinc finger protein 11A	ZNF33, ZNF11A	NA	2014798, 8464732	Standard	NM_006974	NM_006974	NA	Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000374618.3:c.1664G>A	10.37:g.38344716G>A	ENSP00000363747:p.Cys555Tyr	NA	P17013|Q5VZ86	37	CCDS44372.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.624374	0.28889	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94	1.68	1.68	0.24146	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39083	N	0.001464	D	0.91449	0.7301	M	0.87038	2.855	0.09310	N	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.933	T	0.82596	-0.0379	10	0.87932	D	0	.	8.8786	0.35360	0.0:0.0:1.0:0.0	.	561;554;555	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	Y	555;561;554;554	ENSP00000363747:C555Y;ENSP00000402467:C561Y;ENSP00000387713:C554Y;ENSP00000304268:C554Y	ENSP00000304268:C554Y	C	+	2	0	ZNF33A	38384722	1.000000	0.71417	0.992000	0.48379	0.694000	0.40290	8.253000	0.89842	0.897000	0.36392	0.305000	0.20034	TGT	ZNF33A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047614.1		+	ENST00000374618.3	Missense_Mutation	SNP	10 : 38344716 - 38344716 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	704	147
TAF1C	9013	broad.mit.edu	37	16	84215021	84215021	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84215021G>T	ENST00000567759.1	-	10	1337	c.1155C>A	c.(1153-1155)tcC>tcA	p.S385S	TAF1C_ENST00000541676.1_Silent_p.S292S|TAF1C_ENST00000566732.1_Silent_p.S359S|TAF1C_ENST00000341690.6_Silent_p.S292S|TAF1C_ENST00000570117.1_Silent_p.S53S|TAF1C_ENST00000378541.4_Silent_p.S385S	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	385					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GCCACGAAGAGGAGTCCCGGA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	52	53			NA	NA	16		NA											NA				84215021		2200	4300	6500	SO:0001819	synonymous_variant			L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168	9013	9013			11534	protein-coding gene	gene with protein product		604905	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD		NA	7801123	Standard	NM_139353	NM_005679	NA	Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.1155C>A	16.37:g.84215021G>T		NA	B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	37	CCDS32496.1																																																																																			TAF1C-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000433045.2		-	ENST00000567759.1	Silent	SNP	16 : 84215021 - 84215021 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	231	41
PDE8B	8622	broad.mit.edu	37	5	76700561	76700561	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76700561A>C	ENST00000264917.5	+	12	1272	c.1227A>C	c.(1225-1227)agA>agC	p.R409S	PDE8B_ENST00000346042.3_Missense_Mutation_p.R312S|PDE8B_ENST00000340978.3_Missense_Mutation_p.R362S|PDE8B_ENST00000342343.4_Missense_Mutation_p.R389S|PDE8B_ENST00000333194.4_Missense_Mutation_p.R409S	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	409					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		ATTCATTCAGATATAAGAACA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	88	88			NA	NA	5		NA											NA				76700561		2203	4300	6503	SO:0001583	missense			AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	8622	8622	3.1.4.17	Phosphodiesterases	8794	protein-coding gene	gene with protein product		603390			NA	9784418	Standard	NM_003719	NM_003719	NA	Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.1227A>C	5.37:g.76700561A>C	ENSP00000264917:p.Arg409Ser	NA	Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	37	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	A	13.22	2.170914	0.38315	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194	T;T;T;T;T	0.70749	-0.46;-0.51;-0.46;-0.46;-0.4	4.75	3.5	0.40072	.	0.168621	0.48286	N	0.000194	T	0.53818	0.1820	L	0.33485	1.01	0.80722	D	1	B;B;P;B;B	0.35139	0.214;0.337;0.486;0.337;0.228	B;B;B;B;B	0.35727	0.098;0.149;0.209;0.149;0.071	T	0.47611	-0.9104	10	0.20519	T	0.43	.	6.6596	0.23007	0.7848:0.0:0.078:0.1372	.	312;362;409;389;409	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	S	362;312;409;389;409	ENSP00000345446:R362S;ENSP00000330428:R312S;ENSP00000264917:R409S;ENSP00000345646:R389S;ENSP00000331336:R409S	ENSP00000264917:R409S	R	+	3	2	PDE8B	76736317	0.018000	0.18449	1.000000	0.80357	0.980000	0.70556	0.256000	0.18351	1.898000	0.54952	0.460000	0.39030	AGA	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000220015.3		+	ENST00000264917.5	Missense_Mutation	SNP	5 : 76700561 - 76700561 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	283	48
MACF1	23499	broad.mit.edu	37	1	39926355	39926355	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39926355C>T	ENST00000372915.3	+	91	21196	c.21109C>T	c.(21109-21111)Cgt>Tgt	p.R7037C	MACF1_ENST00000317713.7_Missense_Mutation_p.R5079C|MACF1_ENST00000545844.1_Missense_Mutation_p.R5079C|MACF1_ENST00000361689.2_Missense_Mutation_p.R5079C|MACF1_ENST00000289893.4_Missense_Mutation_p.R5581C|MACF1_ENST00000567887.1_Missense_Mutation_p.R7175C|MACF1_ENST00000539005.1_Missense_Mutation_p.R4949C|MACF1_ENST00000564288.1_Missense_Mutation_p.R7138C			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7037					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAAGTATATGCGTTGGATGAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	154	153			NA	NA	1		NA											NA				39926355		2203	4300	6503	SO:0001583	missense			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603	23499	23499		EF-hand domain containing	13664	protein-coding gene	gene with protein product	actin cross-linking factor, 620 kDa actin binding protein, macrophin 1, trabeculin-alpha, actin cross-linking family protein 7	608271			NA	7635207, 10529403	Standard	NM_033044	NM_012090	NA	Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.21109C>T	1.37:g.39926355C>T	ENSP00000362006:p.Arg7037Cys	NA	E9PJT0|O75053|Q5VW20|Q8WXY2|Q9H540|Q9UKP0|Q9ULG9	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.354817|5.354817	0.95854|0.95854	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925;ENST00000446276|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.08282	.|3.11;3.11;3.11;3.11;3.11;3.11	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.000000	.|0.64402	.|D	.|0.000010	T|T	0.31040|0.31040	0.0784|0.0784	M|M	0.71871|0.71871	2.18|2.18	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.998;1.0	T|T	0.00173|0.00173	-1.1957|-1.1957	5|9	.|.	.|.	.|.	.|.	20.0695|20.0695	0.97716|0.97716	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|7037;5079	.|Q9UPN3;F8W8Q1	.|MACF1_HUMAN;.	V|C	4082;60|5079;7037;5079;5079;4949;5581	.|ENSP00000439537:R5079C;ENSP00000362006:R7037C;ENSP00000354573:R5079C;ENSP00000313438:R5079C;ENSP00000444364:R4949C;ENSP00000289893:R5581C	.|.	A|R	+|+	2|1	0|0	MACF1|MACF1	39698942|39698942	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.081000|6.081000	0.71309|0.71309	2.761000|2.761000	0.94854|0.94854	0.585000|0.585000	0.79938|0.79938	GCG|CGT	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000392096.1		+	ENST00000372915.3	Missense_Mutation	SNP	1 : 39926355 - 39926355 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	604	122
COL19A1	1310	broad.mit.edu	37	6	70852662	70852662	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70852662C>T	ENST00000322773.4	+	23	1678	c.1576C>T	c.(1576-1578)Cag>Tag	p.Q526*	COL19A1_ENST00000393344.1_Nonsense_Mutation_p.Q148*	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	526	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ATTTTAGGGTCAGCAAGGATC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	95	94			NA	NA	6		NA											NA				70852662		2203	4300	6503	SO:0001587	stop_gained				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293	1310	1310		Collagens	2196	protein-coding gene	gene with protein product		120165			NA	7916703, 9143499	Standard		NM_001858	NA	Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1576C>T	6.37:g.70852662C>T	ENSP00000316030:p.Gln526*	NA	Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	37	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928743	0.92389	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	.	.	.	5.27	5.27	0.74061	.	0.157235	0.42053	D	0.000772	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	16.4175	0.83746	0.0:1.0:0.0:0.0	.	.	.	.	X	526;148	.	ENSP00000316030:Q526X	Q	+	1	0	COL19A1	70909383	1.000000	0.71417	1.000000	0.80357	0.088000	0.18126	2.243000	0.43115	2.613000	0.88420	0.585000	0.79938	CAG	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041127.1		+	ENST00000322773.4	Nonsense_Mutation	SNP	6 : 70852662 - 70852662 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	362	60
DOCK1	1793	broad.mit.edu	37	10	129224193	129224193	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129224193T>C	ENST00000280333.6	+	47	4878	c.4769T>C	c.(4768-4770)cTg>cCg	p.L1590P		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1590	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ACGGAGGCACTGAGGCCGTTC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													196	196	196			NA	NA	10		NA											NA				129224193		1958	4152	6110	SO:0001583	missense			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760	1793	1793			2987	protein-coding gene	gene with protein product	DOwnstream of CrK	601403	dedicator of cyto-kinesis 1		NA	8657152, 8661160	Standard	NM_001380	XM_006717681	NA	Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4769T>C	10.37:g.129224193T>C	ENSP00000280333:p.Leu1590Pro	NA	A9Z1Z5	37		.	.	.	.	.	.	.	.	.	.	t	17.76	3.469373	0.63625	.	.	ENSG00000150760	ENST00000280333	T	0.17213	2.29	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000007	T	0.51568	0.1682	M	0.92268	3.29	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	T	0.64774	-0.6328	10	0.87932	D	0	.	14.8644	0.70404	0.0:0.0:0.0:1.0	.	1590;1656;1590	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	P	1590	ENSP00000280333:L1590P	ENSP00000280333:L1590P	L	+	2	0	DOCK1	129114183	1.000000	0.71417	0.989000	0.46669	0.360000	0.29518	7.817000	0.86213	2.094000	0.63399	0.370000	0.22315	CTG	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000050979.2		+	ENST00000280333.6	Missense_Mutation	SNP	10 : 129224193 - 129224193 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1106	204
AGPAT4	56895	broad.mit.edu	37	6	161575237	161575237	+	Missense_Mutation	SNP	G	G	A	rs143406726		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161575237G>A	ENST00000320285.4	-	4	666	c.454C>T	c.(454-456)Cgc>Tgc	p.R152C	AGPAT4_ENST00000366908.5_3'UTR|AGPAT4_ENST00000366911.5_Missense_Mutation_p.S95L|AGPAT4_ENST00000457520.2_Intron|AGPAT4_ENST00000366906.5_Missense_Mutation_p.R90C	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	152					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		ACCGTCTTGCGATCCTGCTCC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	126	132			NA	NA	6		NA											NA				161575237		2203	4300	6503	SO:0001583	missense			AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	56895	56895	2.3.1.51	1-acylglycerol-3-phosphate O-acyltransferases	20885	protein-coding gene	gene with protein product	lysophosphatidic acid acyltransferase, delta	614795	1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)		NA		Standard	NM_020133	XM_005267052	NA	Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.454C>T	6.37:g.161575237G>A	ENSP00000314036:p.Arg152Cys	NA	Q5TEF0	37	CCDS5280.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.8|21.8	4.195733|4.195733	0.78902|0.78902	.|.	.|.	ENSG00000026652|ENSG00000026652	ENST00000320285;ENST00000366906|ENST00000366911	D;D|.	0.91521|.	-2.86;-2.86|.	4.41|4.41	4.41|4.41	0.53225|0.53225	Phospholipid/glycerol acyltransferase (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.49695|0.49695	0.1572|0.1572	M|M	0.89287|0.89287	3.02|3.02	0.80722|0.80722	D|D	1|1	D;D|P	0.89917|0.44946	1.0;1.0|0.846	D;D|B	0.73380|0.35899	0.98;0.973|0.213	T|T	0.66372|0.66372	-0.5940|-0.5940	10|8	0.87932|0.87932	D|D	0|0	-46.4133|-46.4133	12.3423|12.3423	0.55101|0.55101	0.0:0.0:0.8312:0.1687|0.0:0.0:0.8312:0.1687	.|.	152;152|95	B4DHC0;Q9NRZ5|B4DIY1	.;PLCD_HUMAN|.	C|L	152;90|95	ENSP00000314036:R152C;ENSP00000355873:R90C|.	ENSP00000314036:R152C|ENSP00000355878:S95L	R|S	-|-	1|2	0|0	AGPAT4|AGPAT4	161495227|161495227	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.867000|0.867000	0.49689|0.49689	6.093000|6.093000	0.71422|0.71422	2.290000|2.290000	0.77057|0.77057	0.651000|0.651000	0.88453|0.88453	CGC|TCG	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042983.1		-	ENST00000320285.4	Missense_Mutation	SNP	6 : 161575237 - 161575237 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	485	87
DPCR1	135656	broad.mit.edu	37	6	30919785	30919785	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30919785A>C	ENST00000462446.1	+	2	3572	c.3544A>C	c.(3544-3546)Aga>Cga	p.R1182R	DPCR1_ENST00000304311.2_Silent_p.R24R|HCG21_ENST00000419481.1_RNA			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	313						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						GAAAACCACAAGAACCCCAGA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	161	161			NA	NA	6		NA											NA				30919785		2203	4300	6503	SO:0001819	synonymous_variant			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631	135656	135656			21666	protein-coding gene	gene with protein product		613928			NA	12185533, 10677310	Standard	NM_080870	NM_080870	NA	Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.3544A>C	6.37:g.30919785A>C		NA	C9IZC0|Q658M7|Q8WYN2	37	CCDS4692.2																																																																																			DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076173.3		+	ENST00000462446.1	Silent	SNP	6 : 30919785 - 30919785 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	389	99
SLC27A5	10998	broad.mit.edu	37	19	59011712	59011712	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59011712C>A	ENST00000263093.2	-	6	1571	c.1462G>T	c.(1462-1464)Ggg>Tgg	p.G488W	SLC27A5_ENST00000601355.1_Missense_Mutation_p.G404W	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	488					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		ATACCTAGCCCTACAGGGATG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	81	83			NA	NA	19		NA											NA				59011712		2203	4300	6503	SO:0001583	missense			AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807	10998	10998		Acyl-CoA synthetase family, Solute carriers	10999	protein-coding gene	gene with protein product	fatty-acid-Coenzyme A ligase, very long-chain 3	603314			NA	10479480, 10749848	Standard	NM_012254	NM_012254	NA	Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1462G>T	19.37:g.59011712C>A	ENSP00000263093:p.Gly488Trp	NA	B3KVP6	37	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160946	0.57368	.	.	ENSG00000083807	ENST00000263093	T	0.58210	0.35	5.33	1.55	0.23275	AMP-dependent synthetase/ligase (1);	1.014630	0.07860	N	0.966174	T	0.68247	0.2980	M	0.79926	2.475	0.09310	N	0.999998	D	0.63880	0.993	D	0.66602	0.945	T	0.50792	-0.8786	10	0.72032	D	0.01	-5.2809	4.028	0.09697	0.0:0.5624:0.1893:0.2483	.	488	Q9Y2P5	S27A5_HUMAN	W	488	ENSP00000263093:G488W	ENSP00000263093:G488W	G	-	1	0	SLC27A5	63703524	0.000000	0.05858	0.684000	0.30055	0.879000	0.50718	0.011000	0.13264	0.593000	0.29745	0.563000	0.77884	GGG	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000467060.1		-	ENST00000263093.2	Missense_Mutation	SNP	19 : 59011712 - 59011712 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	48
VARS2	57176	broad.mit.edu	37	6	30888119	30888119	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30888119C>T	ENST00000321897.5	+	13	1935	c.1303C>T	c.(1303-1305)Cgg>Tgg	p.R435W	VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000541562.1_Missense_Mutation_p.R465W|VARS2_ENST00000542001.1_Missense_Mutation_p.R295W|VARS2_ENST00000416670.2_Missense_Mutation_p.R435W			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	435					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GGGTCTTCACCGGTTTGTGGC	0.542		NA											C	0	0	NA	NA	2184	NA	1	,	,	NA	2e-04	NA	NA	NA	0	0	EXOME	NA	NA	2e-04	SNP								NA				0													37	40	39			NA	NA	6		NA											NA				30888119		2203	4300	6503	SO:0001583	missense			AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	57176	57176	6.1.1.9	Aminoacyl tRNA synthetases / Class I	21642	protein-coding gene	gene with protein product	valine tRNA ligase 2, mitochondrial	612802	valyl-tRNA synthetase 2-like, valyl-tRNA synthetase like, valyl-tRNA synthetase 2, mitochondrial (putative)	VARS2L, VARSL	NA	1898367, 11572484, 18400783	Standard	NM_020442	NM_001167734	NA	Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.1303C>T	6.37:g.30888119C>T	ENSP00000316092:p.Arg435Trp	NA	A2ABL7|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	37	CCDS34387.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	16.39	3.108528	0.56291	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	4.27	4.27	0.50696	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.61887	0.2383	H	0.95079	3.62	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.71971	-0.4431	10	0.87932	D	0	-10.3179	9.9348	0.41545	0.2031:0.7968:0.0:0.0	.	433;465;435	B7ZL25;F5GXJ0;Q5ST30	.;.;SYVM_HUMAN	W	435;435;295;465	ENSP00000316092:R435W;ENSP00000394802:R435W;ENSP00000438200:R295W;ENSP00000441000:R465W	ENSP00000316092:R435W	R	+	1	2	VARS2	30996098	1.000000	0.71417	0.994000	0.49952	0.450000	0.32258	2.944000	0.49034	2.104000	0.64026	0.462000	0.41574	CGG	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076566.2		+	ENST00000321897.5	Missense_Mutation	SNP	6 : 30888119 - 30888119 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	238	10
SPAG5	10615	broad.mit.edu	37	17	26918763	26918763	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26918763G>A	ENST00000321765.5	-	4	1722	c.1390C>T	c.(1390-1392)Cca>Tca	p.P464S		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	464					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TGGGTTTCTGGGTGAGGGACA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	89	91			NA	NA	17		NA											NA				26918763		2203	4300	6503	SO:0001583	missense			AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382	10615	10615			13452	protein-coding gene	gene with protein product	mitotic spindle coiled-coil related protein, astrin, mitotic spindle associated protein p126	615562			NA	11549262	Standard	NM_006461	NM_006461	NA	Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.1390C>T	17.37:g.26918763G>A	ENSP00000323300:p.Pro464Ser	NA	O95213|Q9BWE8|Q9NT17|Q9UFE6	37	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	G	9.516	1.107023	0.20714	.	.	ENSG00000076382	ENST00000321765	.	.	.	5.73	2.57	0.30868	.	0.749706	0.12505	N	0.462985	T	0.15349	0.0370	N	0.11560	0.145	0.09310	N	1	B	0.17667	0.023	B	0.15052	0.012	T	0.33214	-0.9877	9	0.07990	T	0.79	4.8732	4.7754	0.13176	0.1848:0.0:0.6461:0.1691	.	464	Q96R06	SPAG5_HUMAN	S	464	.	ENSP00000323300:P464S	P	-	1	0	SPAG5	23942890	0.001000	0.12720	0.007000	0.13788	0.992000	0.81027	0.478000	0.22212	0.306000	0.22856	0.655000	0.94253	CCA	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390564.2		-	ENST00000321765.5	Missense_Mutation	SNP	17 : 26918763 - 26918763 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	615	106
FADS1	3992	broad.mit.edu	37	11	61580775	61580775	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61580775C>A	ENST00000350997.7	-	2	658	c.426G>T	c.(424-426)atG>atT	p.M142I	FADS1_ENST00000433932.1_Start_Codon_SNP_p.M1I|FADS1_ENST00000542506.1_Start_Codon_SNP_p.M1I|FADS2_ENST00000574708.1_Intron	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN	fatty acid desaturase 1	85					cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GGAGAGAGTTCATATACTTCT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	144	141			NA	NA	11		NA											NA				61580775		2089	4219	6308	SO:0001583	missense				CCDS8011.2	11q12-q13.1	2013-01-25			ENSG00000149485	ENSG00000149485	3992	3992	1.14.19.3	Fatty acid desaturases	3574	protein-coding gene	gene with protein product	delta-5 desaturase	606148		LLCDL1	NA		Standard	NM_013402	NM_013402	NA	Approved	D5D, FADSD5, TU12, FADS6	uc010rlm.2	O60427	OTTHUMG00000157155	ENST00000350997.7:c.426G>T	11.37:g.61580775C>A	ENSP00000322229:p.Met142Ile	NA	B2RAI0|Q53GM5|Q8N3A6|Q8NCC7|Q8NCG0|Q96I39|Q96SV3|Q96T10|Q9NRP8|Q9NYX1	37	CCDS8011.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033804	0.75504	.	.	ENSG00000149485	ENST00000350997;ENST00000412725;ENST00000433932;ENST00000542506;ENST00000540767;ENST00000545245;ENST00000545405;ENST00000421879;ENST00000544696;ENST00000466716;ENST00000544309;ENST00000539419;ENST00000448607;ENST00000473263	T;T;T;T;T;T;T;T;T;T	0.80214	-1.35;2.03;2.03;1.57;1.57;1.58;1.55;0.85;0.86;0.85	5.43	5.43	0.79202	Cytochrome b5 (5);	.	.	.	.	T	0.80613	0.4656	L	0.56396	1.775	0.80722	D	1	B	0.15473	0.013	B	0.23275	0.045	T	0.76798	-0.2826	9	0.72032	D	0.01	-10.6168	19.2379	0.93869	0.0:1.0:0.0:0.0	.	85	O60427	FADS1_HUMAN	I	142;1;1;1;1;1;1;1;1;1;1;1;1;1	ENSP00000322229:M142I;ENSP00000405087:M1I;ENSP00000441403:M1I;ENSP00000441871:M1I;ENSP00000442170:M1I;ENSP00000440652:M1I;ENSP00000416043:M1I;ENSP00000443037:M1I;ENSP00000446270:M1I;ENSP00000439790:M1I	ENSP00000322229:M142I	M	-	3	0	FADS1	61337351	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.037000	0.64170	2.716000	0.92895	0.655000	0.94253	ATG	FADS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347648.2		-	ENST00000350997.7	Missense_Mutation	SNP	11 : 61580775 - 61580775 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	909	169
SLC45A4	57210	broad.mit.edu	37	8	142227289	142227289	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142227289C>T	ENST00000519067.1	-	5	1780		c.e5-1		SLC45A4_ENST00000024061.3_Splice_Site|SLC45A4_ENST00000517878.1_Splice_Site|SLC45A4_ENST00000433583.2_Splice_Site			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	NA					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TCGAGGGGGCCTGTTCCGGAA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	41	40			NA	NA	8		NA											NA				142227289		2203	4300	6503	SO:0001630	splice_region_variant			AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22					57210	57210		Solute carriers	29196	protein-coding gene	gene with protein product					NA		Standard	XM_050325	NM_001080431	NA	Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000519067.1:c.1477-1G>A	8.37:g.142227289C>T		NA	Q6ZRI2|Q9ULU3	37		.	.	.	.	.	.	.	.	.	.	C	14.53	2.564260	0.45694	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7099	0.91652	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC45A4	142296471	1.000000	0.71417	0.995000	0.50966	0.208000	0.24298	7.494000	0.81503	2.420000	0.82092	0.491000	0.48974	.	SLC45A4-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000378932.2	Intron	-	ENST00000519067.1	Splice_Site	SNP	8 : 142227289 - 142227289 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	327	68
MAPK8	5599	broad.mit.edu	37	10	49639287	49639287	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:49639287T>G	ENST00000374189.1	+	11	1293	c.1112T>G	c.(1111-1113)gTt>gGt	p.V371G	MAPK8_ENST00000374182.3_Missense_Mutation_p.V371G|MAPK8_ENST00000360332.3_Missense_Mutation_p.V371G|MAPK8_ENST00000459755.1_3'UTR|MAPK8_ENST00000395611.3_Missense_Mutation_p.V295G			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	371					activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|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	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		AAGAATGGAGTTATACGGGGG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	86	85			NA	NA	10		NA											NA				49639287		2203	4300	6503	SO:0001583	missense			L26318	CCDS7223.1, CCDS7224.1, CCDS7225.1, CCDS7226.1, CCDS60527.1	10q11	2011-06-09			ENSG00000107643	ENSG00000107643	5599	5599	2.7.11.1	Mitogen-activated protein kinase cascade / Kinases	6881	protein-coding gene	gene with protein product	JUN N-terminal kinase	601158		PRKM8	NA	8137421, 8654373	Standard		NM_002750	NA	Approved	JNK, JNK1, SAPK1	uc001jgp.3	P45983	OTTHUMG00000018172	ENST00000374189.1:c.1112T>G	10.37:g.49639287T>G	ENSP00000363304:p.Val371Gly	NA	B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713	37	CCDS7224.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.620018	0.87460	.	.	ENSG00000107643	ENST00000374189;ENST00000374182;ENST00000374179;ENST00000360332;ENST00000374176;ENST00000395611	T;T;T;T;T;T	0.75367	-0.92;-0.9;-0.9;-0.92;-0.93;-0.74	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.84611	0.5510	M	0.75447	2.3	0.80722	D	1	D;B;B;B;B	0.54601	0.967;0.125;0.001;0.001;0.257	D;B;B;B;B	0.64595	0.927;0.096;0.002;0.002;0.287	D	0.83661	0.0161	10	0.34782	T	0.22	.	16.2107	0.82151	0.0:0.0:0.0:1.0	.	295;371;371;371;371	Q308M2;P45983-2;P45983;A1L4K2;P45983-3	.;.;MK08_HUMAN;.;.	G	371;371;371;371;371;295	ENSP00000363304:V371G;ENSP00000363297:V371G;ENSP00000363294:V371G;ENSP00000353483:V371G;ENSP00000363291:V371G;ENSP00000378974:V295G	ENSP00000353483:V371G	V	+	2	0	MAPK8	49309293	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.852000	0.86927	2.293000	0.77203	0.477000	0.44152	GTT	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047931.1		+	ENST00000374189.1	Missense_Mutation	SNP	10 : 49639287 - 49639287 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	217	10
ETFDH	2110	broad.mit.edu	37	4	159627874	159627874	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159627874C>A	ENST00000307738.5	+	11	1539	c.1421C>A	c.(1420-1422)tCt>tAt	p.S474Y	ETFDH_ENST00000511912.1_Missense_Mutation_p.S521Y	NM_001281737.1	NP_001268666.1	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	521					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		CTCTTGTCATCTGTGGCTCTG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													188	177	181			NA	NA	4		NA											NA				159627874		2203	4300	6503	SO:0001583	missense			S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503	2110	2110			3483	protein-coding gene	gene with protein product		231675			NA		Standard		NM_004453	NA	Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000307738.5:c.1421C>A	4.37:g.159627874C>A	ENSP00000303552:p.Ser474Tyr	NA	Q7Z347	37		.	.	.	.	.	.	.	.	.	.	C	28.3	4.910147	0.92107	.	.	ENSG00000171503	ENST00000511912;ENST00000307738	D;D	0.95949	-3.86;-3.86	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.98798	0.9595	H	0.97852	4.09	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.99372	1.0920	10	0.87932	D	0	-0.078	19.6878	0.95987	0.0:1.0:0.0:0.0	.	474;460;521	B4E3R9;B4DEQ0;Q16134	.;.;ETFD_HUMAN	Y	521;474	ENSP00000426638:S521Y;ENSP00000303552:S474Y	ENSP00000303552:S474Y	S	+	2	0	ETFDH	159847324	1.000000	0.71417	0.927000	0.36925	0.989000	0.77384	7.818000	0.86416	2.646000	0.89796	0.591000	0.81541	TCT	ETFDH-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000366382.1		+	ENST00000307738.5	Missense_Mutation	SNP	4 : 159627874 - 159627874 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1005	190
HARBI1	283254	broad.mit.edu	37	11	46637220	46637220	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46637220C>T	ENST00000326737.3	-	2	815	c.568G>A	c.(568-570)Gag>Aag	p.E190K		NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	190						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						CAGTTTGTCTCCACGGTCATT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	149	147			NA	NA	11		NA											NA				46637220		2201	4299	6500	SO:0001583	missense			AK057237	CCDS7920.1	11p11.2	2008-07-10	2008-07-01	2008-07-01	ENSG00000180423	ENSG00000180423	283254	283254			26522	protein-coding gene	gene with protein product		615086	chromosome 11 open reading frame 77	C11orf77	NA	15169610, 18339812	Standard	NM_173811	NM_173811	NA	Approved	FLJ32675	uc001ncy.3	Q96MB7	OTTHUMG00000166537	ENST00000326737.3:c.568G>A	11.37:g.46637220C>T	ENSP00000317743:p.Glu190Lys	NA	D3DQP9	37	CCDS7920.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.750490	0.89753	.	.	ENSG00000180423	ENST00000326737	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.67915	0.2944	M	0.68593	2.085	0.80722	D	1	P	0.48230	0.907	P	0.47915	0.561	T	0.67280	-0.5710	9	0.29301	T	0.29	-22.794	18.2823	0.90102	0.0:1.0:0.0:0.0	.	190	Q96MB7	HARB1_HUMAN	K	190	.	ENSP00000317743:E190K	E	-	1	0	HARBI1	46593796	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.452000	0.80683	2.311000	0.77944	0.655000	0.94253	GAG	HARBI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390291.1		-	ENST00000326737.3	Missense_Mutation	SNP	11 : 46637220 - 46637220 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1140	239
MON1B	22879	broad.mit.edu	37	16	77228783	77228783	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77228783C>T	ENST00000439557.2	+	3	777	c.700C>T	c.(700-702)Ctg>Ttg	p.L234L	MON1B_ENST00000320859.6_Intron|MON1B_ENST00000248248.3_Silent_p.L343L|MON1B_ENST00000545553.1_Silent_p.L197L			Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	343							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						CGTGGCCCGCCTGGATGCTAT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	102	101			NA	NA	16		NA											NA				77228783		2198	4300	6498	SO:0001819	synonymous_variant			BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111	22879	22879			25020	protein-coding gene	gene with protein product		608954	MON1 homolog B (yeast)		NA	10048485	Standard	NM_014940	NM_014940	NA	Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000439557.2:c.700C>T	16.37:g.77228783C>T		NA	O94949	37																																																																																				MON1B-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000433886.1		+	ENST00000439557.2	Silent	SNP	16 : 77228783 - 77228783 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	887	142
POLRMT	5442	broad.mit.edu	37	19	623477	623477	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:623477G>A	ENST00000588649.2	-	6	1351	c.1267C>T	c.(1267-1269)Cca>Tca	p.P423S		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	423					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTTGCTTGGCAACGTGGGC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	46	48			NA	NA	19		NA											NA				623477		2203	4300	6503	SO:0001583	missense				CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	5442	5442	2.7.7.6		9200	protein-coding gene	gene with protein product		601778			NA	9097968	Standard	NM_005035	NM_005035	NA	Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.1267C>T	19.37:g.623477G>A	ENSP00000465759:p.Pro423Ser	NA	O60370	37	CCDS12036.1	.	.	.	.	.	.	.	.	.	.	.	11.41	1.631471	0.29068	.	.	ENSG00000099821	ENST00000215591	T	0.40476	1.03	4.36	1.54	0.23209	.	0.496370	0.20887	N	0.083892	T	0.24928	0.0605	L	0.40543	1.245	0.09310	N	1	B	0.29253	0.239	B	0.24006	0.05	T	0.24476	-1.0159	10	0.07644	T	0.81	-11.3198	7.0383	0.25004	0.0889:0.0:0.6622:0.2488	.	423	O00411	RPOM_HUMAN	S	423	ENSP00000215591:P423S	ENSP00000215591:P423S	P	-	1	0	POLRMT	574477	0.007000	0.16637	0.000000	0.03702	0.001000	0.01503	1.608000	0.36847	0.132000	0.18615	0.561000	0.74099	CCA	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452172.3		-	ENST00000588649.2	Missense_Mutation	SNP	19 : 623477 - 623477 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	459	91
RFC1	5981	broad.mit.edu	37	4	39291557	39291557	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39291557C>A	ENST00000381897.1	-	24	3407	c.3274G>T	c.(3274-3276)Gat>Tat	p.D1092Y	RFC1_ENST00000349703.2_Missense_Mutation_p.D1091Y	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	1092					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TATTCCGAATCCAGGGATGGG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)							NA				0													235	230	232			NA	NA	4		NA											NA				39291557		2203	4300	6503	SO:0001583	missense			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928	5981	5981		ATPases / AAA-type	9969	protein-coding gene	gene with protein product		102579	replication factor C (activator 1) 1 (145kD)		NA	8114700	Standard	NM_002913	NM_002913	NA	Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.3274G>T	4.37:g.39291557C>A	ENSP00000371321:p.Asp1092Tyr	NA	A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	37	CCDS56329.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.62|13.62	2.290121|2.290121	0.40494|0.40494	.|.	.|.	ENSG00000035928|ENSG00000035928	ENST00000381897;ENST00000349703|ENST00000514572	T;T|.	0.14144|.	2.53;2.53|.	5.83|5.83	3.8|3.8	0.43715|0.43715	.|.	0.392641|.	0.23591|.	N|.	0.046557|.	T|T	0.58836|0.58836	0.2150|0.2150	L|L	0.47716|0.47716	1.5|1.5	0.42668|0.42668	D|D	0.9935|0.9935	B;D|.	0.58620|.	0.074;0.983|.	B;P|.	0.61940|.	0.031;0.896|.	T|T	0.57087|0.57087	-0.7871|-0.7871	10|5	0.66056|.	D|.	0.02|.	-15.5032|-15.5032	11.9623|11.9623	0.53015|0.53015	0.0:0.7924:0.0:0.2076|0.0:0.7924:0.0:0.2076	.|.	1092;1091|.	P35251;P35251-2|.	RFC1_HUMAN;.|.	Y|V	1092;1091|68	ENSP00000371321:D1092Y;ENSP00000261424:D1091Y|.	ENSP00000261424:D1091Y|.	D|G	-|-	1|2	0|0	RFC1|RFC1	38967952|38967952	0.998000|0.998000	0.40836|0.40836	0.995000|0.995000	0.50966|0.50966	0.012000|0.012000	0.07955|0.07955	3.084000|3.084000	0.50143|0.50143	1.480000|1.480000	0.48289|0.48289	0.561000|0.561000	0.74099|0.74099	GAT|GGA	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216808.1		-	ENST00000381897.1	Missense_Mutation	SNP	4 : 39291557 - 39291557 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	860	166
CASZ1	54897	broad.mit.edu	37	1	10720073	10720073	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10720073C>T	ENST00000377022.3	-	6	1343	c.1026G>A	c.(1024-1026)gaG>gaA	p.E342E	CASZ1_ENST00000344008.5_Silent_p.E342E	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		ACTTGACATTCTCCAGGTCGT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	85	83			NA	NA	1		NA											NA				10720073		2203	4300	6503	SO:0001819	synonymous_variant			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940	54897	54897		Zinc fingers, C2H2-type	26002	protein-coding gene	gene with protein product	zinc finger protein 693, survival related gene	609895	castor homolog 1, zinc finger (Drosophila)		NA	16631614, 21252912	Standard	NM_017766	NM_001079843	NA	Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1026G>A	1.37:g.10720073C>T		NA	Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	37	CCDS41246.1																																																																																			CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005673.2		-	ENST00000377022.3	Silent	SNP	1 : 10720073 - 10720073 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	826	188
MSTO1	55154	broad.mit.edu	37	1	155582081	155582081	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155582081C>T	ENST00000245564.2	+	8	811	c.787C>T	c.(787-789)Ctg>Ttg	p.L263L	MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000368341.4_Silent_p.L228L	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	263					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					AACCTGGGGCCTGCTACCTGG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	57	55			NA	NA	1		NA											NA				155582081		2203	4300	6503	SO:0001819	synonymous_variant			BX537684	CCDS1114.1	1q22	2013-08-21	2013-08-21		ENSG00000125459	ENSG00000125459	55154	55154			29678	protein-coding gene	gene with protein product			misato homolog 1 (Drosophila)		NA	16545939, 17349998	Standard	NM_018116	NM_018116	NA	Approved	FLJ10504, LST005, MST, misato	uc001fky.4	Q9BUK6	OTTHUMG00000014014	ENST00000245564.2:c.787C>T	1.37:g.155582081C>T		NA	Q53GR8|Q5CZ69|Q5T717|Q68CT6|Q7LBZ8|Q7Z3M7|Q7Z558|Q8TE05|Q9NQX2|Q9NVU4	37	CCDS1114.1																																																																																			MSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039408.1		+	ENST00000245564.2	Silent	SNP	1 : 155582081 - 155582081 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	472	84
CCDC12	151903	broad.mit.edu	37	3	46966960	46966960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46966960G>A	ENST00000425441.1	-	5	494	c.269C>T	c.(268-270)gCc>gTc	p.A90V	CCDC12_ENST00000292314.2_Missense_Mutation_p.A90V|CCDC12_ENST00000546280.1_Missense_Mutation_p.A77V|CCDC12_ENST00000605358.1_5'UTR	NM_001277074.1	NP_001264003.1	Q8WUD4	CCD12_HUMAN	coiled-coil domain containing 12	77										endometrium(1)|large_intestine(1)|urinary_tract(1)	3		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)		OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809)		AACCGGTTTGGCCTGGGGCAC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	104	121			NA	NA	3		NA											NA				46966960		2203	4300	6503	SO:0001583	missense			BC020830	CCDS2748.1, CCDS2748.2, CCDS2748.3, CCDS63612.1	3p21.31	2006-10-24			ENSG00000160799	ENSG00000160799	151903	151903			28332	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_144716	NM_001277074	NA	Approved	MGC23918	uc003cqo.3	Q8WUD4	OTTHUMG00000133513	ENST00000425441.1:c.269C>T	3.37:g.46966960G>A	ENSP00000416263:p.Ala90Val	NA	Q8N8I4	37	CCDS2748.2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077400	0.76528	.	.	ENSG00000160799	ENST00000425441;ENST00000292314;ENST00000546280;ENST00000446836	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.65933	0.2739	L	0.31752	0.955	0.80722	D	1	D;P	0.89917	1.0;0.875	D;P	0.87578	0.998;0.46	T	0.62158	-0.6913	9	0.32370	T	0.25	-2.9651	17.1908	0.86879	0.0:0.0:1.0:0.0	.	77;77	B4DZZ9;Q8WUD4	.;CCD12_HUMAN	V	90;90;77;90	.	ENSP00000292314:A90V	A	-	2	0	CCDC12	46941964	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.404000	0.73268	2.724000	0.93272	0.561000	0.74099	GCC	CCDC12-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257478.2		-	ENST00000425441.1	Missense_Mutation	SNP	3 : 46966960 - 46966960 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	132	20
CYP4B1	1580	broad.mit.edu	37	1	47279186	47279186	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47279186G>A	ENST00000371919.4	+	4	483	c.483G>A	c.(481-483)aaG>aaA	p.K161K	CYP4B1_ENST00000271153.4_Silent_p.K176K|CYP4B1_ENST00000452782.2_Silent_p.K13K|CYP4B1_ENST00000371923.4_Silent_p.K176K			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	176					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GGGAGGGTAAGTCCTTTGACA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	118	121			NA	NA	1		NA											NA				47279186		2203	4300	6503	SO:0001819	synonymous_variant			BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973	1580	1580		Cytochrome P450s	2644	protein-coding gene	gene with protein product		124075	cytochrome P450, subfamily IVB, polypeptide 1		NA		Standard	NM_000779	NM_000779	NA	Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000371919.4:c.483G>A	1.37:g.47279186G>A		NA	Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	37	CCDS542.1																																																																																			CYP4B1-003	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021913.2		+	ENST00000371919.4	Silent	SNP	1 : 47279186 - 47279186 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	27
ABCA12	26154	broad.mit.edu	37	2	215815605	215815605	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215815605C>A	ENST00000272895.7	-	45	7069	c.6850G>T	c.(6850-6852)Gag>Tag	p.E2284*	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Nonsense_Mutation_p.E1966*	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2284	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTCTTACCTCTCCAGCAGGT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(66;664 1488 5121 34295)							NA				0													110	111	111			NA	NA	2		NA											NA				215815605		2203	4300	6503	SO:0001587	stop_gained			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452	26154	26154		ATP binding cassette transporters / subfamily A	14637	protein-coding gene	gene with protein product		607800	ichthyosis congenita II, lamellar ichthyosis B	ICR2B	NA	11435397, 12915478, 8845852, 10094194	Standard	NM_173076	NM_015657	NA	Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6850G>T	2.37:g.215815605C>A	ENSP00000272895:p.Glu2284*	NA	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	47	13.600953	0.99752	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	.	.	.	5.61	5.61	0.85477	.	0.082820	0.51477	D	0.000083	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6562	0.95842	0.0:1.0:0.0:0.0	.	.	.	.	X	2284;1966	.	ENSP00000272895:E2284X	E	-	1	0	ABCA12	215523850	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	6.978000	0.76147	2.639000	0.89480	0.555000	0.69702	GAG	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337111.1		-	ENST00000272895.7	Nonsense_Mutation	SNP	2 : 215815605 - 215815605 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	496	25
NOL11	25926	broad.mit.edu	37	17	65714073	65714073	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65714073C>A	ENST00000253247.4	+	1	125	c.10C>A	c.(10-12)Ctg>Atg	p.L4M	NOL11_ENST00000535137.1_5'UTR|NOL11_ENST00000581966.1_3'UTR	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	4						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			AATGGCAGCGCTGGAGGAAGA	0.592		NA									OREG0024682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	44	45			NA	NA	17		NA											NA				65714073		2203	4300	6503	SO:0001583	missense			AK023702	CCDS11671.1	17q24.2	2005-08-08					25926	25926			24557	protein-coding gene	gene with protein product		615366			NA	12477932	Standard	NM_015462	NM_015462	NA	Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.10C>A	17.37:g.65714073C>A	ENSP00000253247:p.Leu4Met	1086	Q7L5S1|Q9UG18	37	CCDS11671.1	.	.	.	.	.	.	.	.	.	.	C	9.413	1.080987	0.20309	.	.	ENSG00000130935	ENST00000253247	T	0.59638	0.25	4.91	0.587	0.17439	.	0.000000	0.64402	D	0.000001	T	0.67915	0.2944	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.65973	-0.6038	10	0.72032	D	0.01	-9.876	8.0543	0.30596	0.0:0.582:0.0:0.418	.	4	Q9H8H0	NOL11_HUMAN	M	4	ENSP00000253247:L4M	ENSP00000253247:L4M	L	+	1	2	NOL11	63144535	0.885000	0.30320	0.995000	0.50966	0.477000	0.33069	0.410000	0.21098	0.079000	0.16929	-0.254000	0.11334	CTG	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448074.1		+	ENST00000253247.4	Missense_Mutation	SNP	17 : 65714073 - 65714073 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	224	11
CCDC135	0	broad.mit.edu	37	16	57762411	57762411	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57762411C>T	ENST00000360716.3	+	17	2527	c.2306C>T	c.(2305-2307)gCg>gTg	p.A769V	CCDC135_ENST00000336825.8_Missense_Mutation_p.A704V|CCDC135_ENST00000394337.4_Missense_Mutation_p.A769V			Q8IY82	CC135_HUMAN		769						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						TGCTGGCAGGCGGTGCGCCTC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	VAL/ALA	1,4391	2.1+/-5.4	0,1,2195	45	47	46		2306	4.2	0.9	16		46	0,8594		0,0,4297	no	missense	CCDC135	NM_032269.5	64	0,1,6492	TT,TC,CC	NA	0.0,0.0228,0.0077	probably-damaging	769/875	57762411	1,12985	2196	4297	6493	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000360716.3:c.2306C>T	16.37:g.57762411C>T	ENSP00000353942:p.Ala769Val	NA	A8K943|Q8NAA0|Q9H080	37	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	c	18.06	3.540465	0.65085	2.28E-4	0.0	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.53857	0.6;0.6;0.6	5.15	4.19	0.49359	.	0.119998	0.56097	D	0.000040	T	0.54208	0.1844	L	0.58969	1.84	0.50171	D	0.99985	P;D	0.71674	0.883;0.998	B;P	0.49192	0.146;0.602	T	0.55842	-0.8077	10	0.42905	T	0.14	-27.7712	11.8083	0.52169	0.0:0.9138:0.0:0.0862	.	704;769	Q8IY82-2;Q8IY82	.;CC135_HUMAN	V	769;704;769	ENSP00000377869:A769V;ENSP00000338938:A704V;ENSP00000353942:A769V	ENSP00000338938:A704V	A	+	2	0	CCDC135	56319912	0.998000	0.40836	0.943000	0.38184	0.601000	0.36947	4.120000	0.57897	2.399000	0.81585	0.491000	0.48974	GCG	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000433323.2		+	ENST00000360716.3	Missense_Mutation	SNP	16 : 57762411 - 57762411 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	345	60
SMARCB1	6598	broad.mit.edu	37	22	24176329	24176329	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24176329C>T	ENST00000407082.3	+	8	1141	c.982C>T	c.(982-984)Cgg>Tgg	p.R328W	SMARCB1_ENST00000344921.6_Splice_Site_p.R383W|SMARCB1_ENST00000407422.3_Splice_Site_p.R365W|SMARCB1_ENST00000263121.7_Splice_Site_p.R374W			Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	374					cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(2)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CTCTTCCAGGCGGATGAGGCG	0.657		NA	D, N, F, S		malignant rhabdoid	malignant rhabdoid								NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1		M	3	Unknown(2)|Deletion - In frame(1)	central_nervous_system(3)											34	26	29			NA	NA	22		NA											NA				24176329		2195	4299	6494	SO:0001630	splice_region_variant			U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956	6598	6598			11103	protein-coding gene	gene with protein product	sucrose nonfermenting, yeast, homolog-like 1, integrase interactor 1, malignant rhabdoid tumor suppressor, protein phosphatase 1, regulatory subunit 144	601607		SNF5L1	NA	7801128, 10319872, 10365963	Standard	NM_003073	NM_003073	NA	Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000407082.3:c.981-1C>T	22.37:g.24176329C>T		NA	O75784|O95474|Q38GA1|Q76N08|Q9UBH2	37		.	.	.	.	.	.	.	.	.	.	C	17.65	3.442226	0.63067	.	.	ENSG00000099956	ENST00000344921;ENST00000263121;ENST00000407422;ENST00000407082	D;D;D;D	0.97529	-4.34;-4.42;-4.38;-4.27	4.94	3.9	0.45041	.	0.000000	0.85682	D	0.000000	D	0.98012	0.9345	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.984;0.919;0.964	D	0.98645	1.0677	10	0.87932	D	0	-9.4379	14.0034	0.64446	0.1526:0.8474:0.0:0.0	.	383;365;374	G5E975;Q17S11;Q12824	.;.;SNF5_HUMAN	W	383;374;365;328	ENSP00000340883:R383W;ENSP00000263121:R374W;ENSP00000383984:R365W;ENSP00000385226:R328W	ENSP00000263121:R374W	R	+	1	2	SMARCB1	22506329	1.000000	0.71417	1.000000	0.80357	0.264000	0.26372	4.566000	0.60843	1.206000	0.43276	0.442000	0.29010	CGG	SMARCB1-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000319874.1	Missense_Mutation	+	ENST00000407082.3	Splice_Site	SNP	22 : 24176329 - 24176329 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	59	9
DCHS2	54798	broad.mit.edu	37	4	155241935	155241935	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155241935C>A	ENST00000357232.4	-	14	3250	c.3251G>T	c.(3250-3252)gGc>gTc	p.G1084V		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	NA	Cadherin 9.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAAAAAACTGCCGTCATCATC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													248	268	261			NA	NA	4		NA											NA				155241935		2203	4300	6503	SO:0001583	missense			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410	54798	54798		Cadherins / Cadherin-related	23111	protein-coding gene	gene with protein product	cadherin-related family member 7	612486	cadherin-like 27, dachsous 2 (Drosophila)	CDH27, PCDH23	NA	15003449	Standard	NM_001142552	NM_017639	NA	Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3251G>T	4.37:g.155241935C>A	ENSP00000349768:p.Gly1084Val	NA	Q4W5P9|Q6ZS61|Q9NXU8	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.722369	0.68959	.	.	ENSG00000197410	ENST00000357232	T	0.61158	0.13	5.69	5.69	0.88448	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.81168	0.4766	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82794	-0.0281	10	0.52906	T	0.07	.	19.8145	0.96560	0.0:1.0:0.0:0.0	.	1084	Q6V1P9	PCD23_HUMAN	V	1084	ENSP00000349768:G1084V	ENSP00000349768:G1084V	G	-	2	0	DCHS2	155461385	1.000000	0.71417	0.935000	0.37517	0.467000	0.32768	7.487000	0.81328	2.683000	0.91414	0.563000	0.77884	GGC	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365281.2		-	ENST00000357232.4	Missense_Mutation	SNP	4 : 155241935 - 155241935 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	775	154
PPP1CA	5499	broad.mit.edu	37	11	67166104	67166104	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67166104C>T	ENST00000376745.4	-	7	1043	c.895G>A	c.(895-897)Gcc>Acc	p.A299T	PPP1CA_ENST00000358239.4_Missense_Mutation_p.A255T|PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000312989.7_Missense_Mutation_p.A310T	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	299					cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			TTCTTGTCGGCGGGCTTGAGG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	86	87			NA	NA	11		NA											NA				67166104		2200	4295	6495	SO:0001583	missense				CCDS8160.1, CCDS8161.1, CCDS31618.1	11q13	2013-01-18	2010-03-05			ENSG00000172531	5499	5499	3.1.3.16	Serine/threonine phosphatases / Protein phosphatase, catalytic subunits	9281	protein-coding gene	gene with protein product		176875	protein phosphatase 1, catalytic subunit, alpha isoform	PPP1A	NA		Standard	NM_002708	NM_002708	NA	Approved	PP1A, PP-1A, PP1alpha	uc001oku.1	P62136		ENST00000376745.4:c.895G>A	11.37:g.67166104C>T	ENSP00000365936:p.Ala299Thr	NA	B2R908|P08129|P20653|P22802	37	CCDS8160.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.875607	0.72180	.	.	ENSG00000172531	ENST00000312989;ENST00000451458;ENST00000376745;ENST00000358239	T;T;T	0.05513	3.43;3.43;3.43	4.76	4.76	0.60689	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);	0.000000	0.64402	D	0.000015	T	0.08403	0.0209	L	0.45228	1.405	0.80722	D	1	B;B;B;B;B;B	0.22003	0.063;0.063;0.004;0.022;0.01;0.003	B;B;B;B;B;B	0.10450	0.005;0.005;0.001;0.003;0.001;0.002	T	0.11251	-1.0595	10	0.66056	D	0.02	-15.3637	16.6987	0.85343	0.0:1.0:0.0:0.0	.	396;396;299;255;310;308	B3KXM2;E9PDP1;P62136;A6NNR3;Q07161;F8W0W8	.;.;PP1A_HUMAN;.;.;.	T	310;396;299;255	ENSP00000326031:A310T;ENSP00000365936:A299T;ENSP00000350974:A255T	ENSP00000326031:A310T	A	-	1	0	PPP1CA	66922680	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.224000	0.65288	2.474000	0.83562	0.462000	0.41574	GCC	PPP1CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395487.1		-	ENST00000376745.4	Missense_Mutation	SNP	11 : 67166104 - 67166104 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	280	49
C11orf87	399947	broad.mit.edu	37	11	109294503	109294503	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:109294503G>T	ENST00000327419.6	+	2	547	c.144G>T	c.(142-144)acG>acT	p.T48T	RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	48						integral to membrane				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						CCTGCATCACGCAGGTGGGAC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	101	110			NA	NA	11		NA											NA				109294503		2201	4298	6499	SO:0001819	synonymous_variant			AB096240, BC035798	CCDS31672.1	11q22.3	2013-12-13	2013-12-13	2013-12-13	ENSG00000185742	ENSG00000185742	399947	399947			33788	protein-coding gene	gene with protein product	neuronal integral membrane protein 1				NA	12477932	Standard	NM_207645	NM_207645	NA	Approved	LOH11CR1A, LOC399947, NEURIM1	uc010rwb.2	Q6NUJ2		ENST00000327419.6:c.144G>T	11.37:g.109294503G>T		NA	B4E169	37	CCDS31672.1																																																																																			C11orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390403.1		+	ENST00000327419.6	Silent	SNP	11 : 109294503 - 109294503 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	24
OR2A12	346525	broad.mit.edu	37	7	143792476	143792476	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143792476C>A	ENST00000408949.2	+	1	336	c.276C>A	c.(274-276)tcC>tcA	p.S92S		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					AAGTCATCTCCTTTGCTCCTT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	118	122			NA	NA	7		NA											NA				143792476		2031	4202	6233	SO:0001819	synonymous_variant				CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858	346525	346525		GPCR / Class A : Olfactory receptors	15082	protein-coding gene	gene with protein product			olfactory receptor, family 2, subfamily A, member 12 pseudogene	OR2A12P	NA		Standard		NM_001004135	NA	Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.276C>A	7.37:g.143792476C>A		NA	Q6IF43	37	CCDS43670.1																																																																																			OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349969.1		+	ENST00000408949.2	Silent	SNP	7 : 143792476 - 143792476 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	396	74
ETFDH	2110	broad.mit.edu	37	4	159606330	159606330	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159606330G>A	ENST00000307738.5	+	4	542	c.424G>A	c.(424-426)Gcc>Acc	p.A142T	ETFDH_ENST00000511912.1_Missense_Mutation_p.A189T	NM_001281737.1	NP_001268666.1	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	189					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		ACAAGCAGAAGCCCTTGGTGT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	131	130			NA	NA	4		NA											NA				159606330		2203	4300	6503	SO:0001583	missense			S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503	2110	2110			3483	protein-coding gene	gene with protein product		231675			NA		Standard		NM_004453	NA	Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000307738.5:c.424G>A	4.37:g.159606330G>A	ENSP00000303552:p.Ala142Thr	NA	Q7Z347	37		.	.	.	.	.	.	.	.	.	.	G	16.04	3.009916	0.54361	.	.	ENSG00000171503	ENST00000511912;ENST00000507475;ENST00000307738	D;D;D	0.95821	-3.77;-3.82;-3.77	5.73	2.97	0.34412	.	0.219823	0.47093	D	0.000260	D	0.93598	0.7956	M	0.77616	2.38	0.39314	D	0.96512	B;B;B	0.23591	0.031;0.012;0.088	B;B;B	0.25405	0.02;0.015;0.06	D	0.90089	0.4176	10	0.39692	T	0.17	-9.9469	7.7272	0.28767	0.0652:0.1201:0.6898:0.1248	.	142;128;189	B4E3R9;B4DEQ0;Q16134	.;.;ETFD_HUMAN	T	189;24;142	ENSP00000426638:A189T;ENSP00000422735:A24T;ENSP00000303552:A142T	ENSP00000303552:A142T	A	+	1	0	ETFDH	159825780	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	5.621000	0.67743	0.772000	0.33382	0.563000	0.77884	GCC	ETFDH-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000366382.1		+	ENST00000307738.5	Missense_Mutation	SNP	4 : 159606330 - 159606330 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	763	128
BHLHE22	27319	broad.mit.edu	37	8	65494072	65494072	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:65494072C>T	ENST00000321870.1	+	1	1259	c.725C>T	c.(724-726)gCg>gTg	p.A242V	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						GAGCAAAAGGCGCTGCGGCTT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(113;104 1586 2865 9855 18065)							NA				0													14	16	16			NA	NA	8		NA											NA				65494072		2189	4297	6486	SO:0001583	missense			U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828	27319	27319		Basic helix-loop-helix proteins	11963	protein-coding gene	gene with protein product		613483	trinucleotide repeat containing 20, basic helix-loop-helix domain containing, class B, 5	TNRC20, BHLHB5	NA	9225980, 12213201, 18557763	Standard	NM_152414	NM_152414	NA	Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.725C>T	8.37:g.65494072C>T	ENSP00000318799:p.Ala242Val	NA		37	CCDS6179.1	.	.	.	.	.	.	.	.	.	.	C	8.940	0.965507	0.18583	.	.	ENSG00000180828	ENST00000321870	T	0.80304	-1.36	4.02	3.13	0.36017	Helix-loop-helix DNA-binding (2);	0.803881	0.10963	U	0.614705	T	0.66470	0.2792	N	0.17631	0.505	0.28152	N	0.929339	P	0.41041	0.736	B	0.32928	0.155	T	0.56679	-0.7939	10	0.46703	T	0.11	0.9187	13.2565	0.60081	0.0:0.8386:0.1614:0.0	.	242	Q8NFJ8	BHE22_HUMAN	V	242	ENSP00000318799:A242V	ENSP00000318799:A242V	A	+	2	0	BHLHE22	65656626	0.950000	0.32346	1.000000	0.80357	0.399000	0.30720	1.823000	0.39062	0.851000	0.35264	-0.502000	0.04539	GCG	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378549.1		+	ENST00000321870.1	Missense_Mutation	SNP	8 : 65494072 - 65494072 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	103	9
FLG	2312	broad.mit.edu	37	1	152285813	152285813	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152285813G>A	ENST00000368799.1	-	3	1584	c.1549C>T	c.(1549-1551)Cgt>Tgt	p.R517C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	517	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGTGTCCACGAATGGTGTCC	0.602		NA							Ichthyosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													349	346	347			NA	NA	1		NA											NA				152285813		2203	4298	6501	SO:0001583	missense	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631	2312	2312		EF-hand domain containing	3748	protein-coding gene	gene with protein product		135940			NA	2740331, 2248957, 16444271	Standard	NM_002016	NM_002016	NA	Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1549C>T	1.37:g.152285813G>A	ENSP00000357789:p.Arg517Cys	NA	Q01720|Q5T583|Q9UC71	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	9.810	1.182872	0.21870	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.01745	4.66	2.91	-0.649	0.11461	.	.	.	.	.	T	0.02494	0.0076	M	0.77616	2.38	0.09310	N	1	D	0.76494	0.999	D	0.74023	0.982	T	0.39981	-0.9587	9	0.56958	D	0.05	.	1.2341	0.01949	0.1416:0.2215:0.4109:0.2261	.	517	P20930	FILA_HUMAN	C	517;49	ENSP00000357789:R517C	ENSP00000357789:R517C	R	-	1	0	FLG	150552437	.	.	0.000000	0.03702	0.001000	0.01503	.	.	0.100000	0.17581	0.603000	0.83216	CGT	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033742.1		-	ENST00000368799.1	Missense_Mutation	SNP	1 : 152285813 - 152285813 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	3153	773
SLIT3	6586	broad.mit.edu	37	5	168112785	168112785	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:168112785G>A	ENST00000519560.1	-	31	3881	c.3462C>T	c.(3460-3462)tgC>tgT	p.C1154C	SLIT3_ENST00000332966.8_Silent_p.C1161C|SLIT3_ENST00000404867.3_Silent_p.C1154C	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1154	EGF-like 6.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAGCTTCTCGCATCTGGGGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(29;311 847 10864 17279 24903)							NA				0													57	58	58			NA	NA	5		NA											NA				168112785		2203	4300	6503	SO:0001819	synonymous_variant			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347	6586	6586			11087	protein-coding gene	gene with protein product		603745	slit (Drosophila) homolog 3	SLIL2	NA	9693030, 9813312	Standard	NM_003062	NM_001271946	NA	Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3462C>T	5.37:g.168112785G>A		NA	A6H8U9|O95804|Q9UFH5	37	CCDS4369.1																																																																																			SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252792.4		-	ENST00000519560.1	Silent	SNP	5 : 168112785 - 168112785 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	57
TRAF7	84231	broad.mit.edu	37	16	2223366	2223366	+	Silent	SNP	C	C	T	rs113743245		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2223366C>T	ENST00000326181.6	+	10	1110	c.978C>T	c.(976-978)atC>atT	p.I326I		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	326					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						CGGAGAAGATCGACCAGCTAG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	59	59			NA	NA	16		NA											NA				2223366		2198	4300	6498	SO:0001819	synonymous_variant			AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653	84231	84231		RING-type (C3HC4) zinc fingers, WD repeat domain containing	20456	protein-coding gene	gene with protein product		606692	ring finger and WD repeat domain 1, TNF receptor-associated factor 7	RFWD1	NA	11230166, 15001576	Standard	NM_032271	NM_032271	NA	Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.978C>T	16.37:g.2223366C>T		NA	Q9H073	37	CCDS10461.1																																																																																			TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250762.1		+	ENST00000326181.6	Silent	SNP	16 : 2223366 - 2223366 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	297	42
SNIP1	79753	broad.mit.edu	37	1	38006201	38006201	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38006201C>A	ENST00000296215.6	-	3	555	c.483G>T	c.(481-483)caG>caT	p.Q161H	SNIP1_ENST00000468040.1_5'UTR	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	161	Arg-rich.				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				GTCCCTGACCCTGCCCACTCC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	125	123			NA	NA	1		NA											NA				38006201		2203	4300	6503	SO:0001583	missense				CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877	79753	79753			30587	protein-coding gene	gene with protein product		608241			NA	10887155, 15378006	Standard	NM_024700	NM_024700	NA	Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.483G>T	1.37:g.38006201C>A	ENSP00000296215:p.Gln161His	NA	Q96SP9|Q9H9T7	37	CCDS419.1	.	.	.	.	.	.	.	.	.	.	C	6.387	0.439562	0.12104	.	.	ENSG00000163877	ENST00000296215;ENST00000436196	T	0.14766	2.48	4.39	4.39	0.52855	.	0.261227	0.37761	N	0.001952	T	0.07818	0.0196	N	0.14661	0.345	0.30487	N	0.771717	P	0.39624	0.681	B	0.37601	0.254	T	0.04930	-1.0917	10	0.41790	T	0.15	-9.8716	8.976	0.35935	0.0:0.7008:0.215:0.0843	.	161	Q8TAD8	SNIP1_HUMAN	H	161;145	ENSP00000296215:Q161H	ENSP00000296215:Q161H	Q	-	3	2	SNIP1	37778788	0.345000	0.24835	0.995000	0.50966	0.036000	0.12997	-0.332000	0.07904	2.733000	0.93635	0.655000	0.94253	CAG	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000012169.2		-	ENST00000296215.6	Missense_Mutation	SNP	1 : 38006201 - 38006201 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	797	147
CEP68	23177	broad.mit.edu	37	2	65298745	65298745	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:65298745G>A	ENST00000260569.4	+	3	625	c.515G>A	c.(514-516)aGc>aAc	p.S172N	RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000377990.2_Missense_Mutation_p.S172N|CEP68_ENST00000546106.1_Missense_Mutation_p.S172N|CEP68_ENST00000497039.1_3'UTR			Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	172					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CAGCCTCACAGCTCAGGTCTC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	77	81			NA	NA	2		NA											NA				65298745		2203	4300	6503	SO:0001583	missense			BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523	23177	23177			29076	protein-coding gene	gene with protein product			KIAA0582	KIAA0582	NA	9628581, 9847074, 14654843	Standard	NM_015147	NM_015147	NA	Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000260569.4:c.515G>A	2.37:g.65298745G>A	ENSP00000260569:p.Ser172Asn	NA	B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	37		.	.	.	.	.	.	.	.	.	.	G	10.85	1.467144	0.26335	.	.	ENSG00000011523	ENST00000377990;ENST00000546106;ENST00000260569;ENST00000545501	T;T;T	0.13778	2.56;2.56;2.56	5.8	-3.97	0.04094	.	1.223130	0.05650	N	0.584966	T	0.05090	0.0136	N	0.08118	0	0.26175	N	0.979806	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001	B;B;B;B;B	0.08055	0.002;0.002;0.001;0.001;0.003	T	0.38286	-0.9668	10	0.23302	T	0.38	1.135	1.0509	0.01579	0.1817:0.2118:0.3139:0.2926	.	160;172;172;172;172	F5H3N9;F5H2Y2;Q76N32;Q76N32-2;Q05C09	.;.;CEP68_HUMAN;.;.	N	172;172;172;160	ENSP00000367229:S172N;ENSP00000438306:S172N;ENSP00000260569:S172N	ENSP00000260569:S172N	S	+	2	0	CEP68	65152249	0.000000	0.05858	0.037000	0.18230	0.657000	0.38888	-0.854000	0.04299	-0.389000	0.07786	0.655000	0.94253	AGC	CEP68-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000251728.2		+	ENST00000260569.4	Missense_Mutation	SNP	2 : 65298745 - 65298745 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	394	101
SAMHD1	25939	broad.mit.edu	37	20	35547879	35547879	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35547879G>T	ENST00000262878.4	-	7	939	c.740C>A	c.(739-741)tCt>tAt	p.S247Y	SAMHD1_ENST00000373694.5_Missense_Mutation_p.S32Y	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	247	HD.				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				AATTCCATTAGAATTAATAAG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	89	91			NA	NA	20		NA											NA				35547879		2203	4300	6503	SO:0001583	missense			AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347	25939	25939		Sterile alpha motif (SAM) domain containing	15925	protein-coding gene	gene with protein product	HD domain containing 1, monocyte protein 5, Aicardi-Goutieres syndrome 5	606754			NA	11064105, 11230166	Standard	NM_015474	NM_015474	NA	Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.740C>A	20.37:g.35547879G>T	ENSP00000262878:p.Ser247Tyr	NA	B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	37	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941492	0.73557	.	.	ENSG00000101347	ENST00000262878;ENST00000373694	D;D	0.90004	-2.6;-2.47	5.82	4.87	0.63330	Metal-dependent phosphohydrolase, HD domain (1);Metal-dependent phosphohydrolase, HD subdomain (1);	0.452484	0.25625	N	0.029390	D	0.91126	0.7206	L	0.53780	1.695	0.41946	D	0.990633	D	0.55800	0.973	P	0.56343	0.796	D	0.91799	0.5450	10	0.72032	D	0.01	-18.0376	14.9983	0.71451	0.0701:0.0:0.9299:0.0	.	247	Q9Y3Z3	SAMH1_HUMAN	Y	247;32	ENSP00000262878:S247Y;ENSP00000362798:S32Y	ENSP00000262878:S247Y	S	-	2	0	SAMHD1	34981293	1.000000	0.71417	0.986000	0.45419	0.975000	0.68041	3.740000	0.55082	2.759000	0.94783	0.557000	0.71058	TCT	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079062.2		-	ENST00000262878.4	Missense_Mutation	SNP	20 : 35547879 - 35547879 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	228	44
APBB2	323	broad.mit.edu	37	4	40832536	40832536	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40832536G>A	ENST00000295974.8	-	13	2214	c.1585C>T	c.(1585-1587)Cga>Tga	p.R529*	APBB2_ENST00000502841.1_5'UTR|APBB2_ENST00000508593.1_Nonsense_Mutation_p.R530*|APBB2_ENST00000506352.1_Nonsense_Mutation_p.R508*|APBB2_ENST00000543538.1_5'UTR|APBB2_ENST00000513140.1_Nonsense_Mutation_p.R508*|APBB2_ENST00000504305.1_5'UTR	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	529	PID 1.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GTGTCACATCGAAATACATGA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(3;20 75 16686 49997)							NA				0													130	126	128			NA	NA	4		NA											NA				40832536		1949	4142	6091	SO:0001587	stop_gained			U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697	323	323			582	protein-coding gene	gene with protein product	Fe65-like	602710			NA	8955346, 9585438	Standard	NM_173075	NM_173075	NA	Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.1585C>T	4.37:g.40832536G>A	ENSP00000295974:p.Arg529*	NA	Q8IUI6	37	CCDS54761.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	46|46	12.202208|12.202208	0.99646|0.99646	.|.	.|.	ENSG00000163697|ENSG00000163697	ENST00000295974;ENST00000316212;ENST00000513140;ENST00000508593;ENST00000506352;ENST00000512510|ENST00000513611	.|.	.|.	.|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.124247|.	0.56097|.	D|.	0.000027|.	.|T	.|0.75102	.|0.3804	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73493	.|-0.3965	.|4	0.02654|.	T|.	1|.	-7.3436|-7.3436	19.2746|19.2746	0.94026|0.94026	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	529;528;508;530;508;43|498	.|.	ENSP00000295974:R529X|.	R|S	-|-	1|2	2|0	APBB2|APBB2	40527293|40527293	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.869000|9.869000	0.99810|0.99810	2.565000|2.565000	0.86533|0.86533	0.491000|0.491000	0.48974|0.48974	CGA|TCG	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360523.3		-	ENST00000295974.8	Nonsense_Mutation	SNP	4 : 40832536 - 40832536 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	453	65
MKI67IP	0	broad.mit.edu	37	2	122489716	122489716	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:122489716G>T	ENST00000285814.4	-	3	380	c.308C>A	c.(307-309)gCt>gAt	p.A103D		NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		103	RRM.				protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						CATTGTTTCAGCAACTATTTT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	84	88			NA	NA	2		NA											NA				122489716		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000285814.4:c.308C>A	2.37:g.122489716G>T	ENSP00000285814:p.Ala103Asp	NA	A8K788|Q8TB66|Q96ED4	37	CCDS2135.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165049	0.78339	.	.	ENSG00000155438	ENST00000285814;ENST00000409201;ENST00000451734	T;T	0.16457	2.34;2.34	5.14	4.25	0.50352	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.048198	0.85682	D	0.000000	T	0.51415	0.1673	H	0.94808	3.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.63528	-0.6617	10	0.87932	D	0	-17.7292	11.7232	0.51693	0.0:0.1781:0.8219:0.0	.	103;103	B4DSM4;Q9BYG3	.;MK67I_HUMAN	D	103;103;71	ENSP00000285814:A103D;ENSP00000398116:A71D	ENSP00000285814:A103D	A	-	2	0	MKI67IP	122206186	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.265000	0.65519	1.153000	0.42468	0.655000	0.94253	GCT	MKI67IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254239.2		-	ENST00000285814.4	Missense_Mutation	SNP	2 : 122489716 - 122489716 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	436	34
HRASLS2	54979	broad.mit.edu	37	11	63327622	63327622	+	Missense_Mutation	SNP	C	C	T	rs151240711		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63327622C>T	ENST00000255695.1	-	2	111	c.53G>A	c.(52-54)cGc>cAc	p.R18H		NM_017878.1	NP_060348.1	Q9NWW9	HRSL2_HUMAN	HRAS-like suppressor 2	18					lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						ATAGCCAAAGCGAGAAATCTC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG	0,4402		0,0,2201	232	224	227		53	-0.4	0	11	dbSNP_134	227	1,8595	1.2+/-3.3	0,1,4297	no	missense	HRASLS2	NM_017878.1	29	0,1,6498	TT,TC,CC	NA	0.0116,0.0,0.0077	possibly-damaging	18/163	63327622	1,12997	2201	4298	6499	SO:0001583	missense				CCDS8046.1	11q12.2	2008-07-18			ENSG00000133328	ENSG00000133328	54979	54979			17824	protein-coding gene	gene with protein product		613866			NA		Standard	NM_017878	NM_017878	NA	Approved	FLJ20556	uc001nxg.1	Q9NWW9	OTTHUMG00000167851	ENST00000255695.1:c.53G>A	11.37:g.63327622C>T	ENSP00000255695:p.Arg18His	NA	B9A7L8	37	CCDS8046.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.625248	0.87560	0.0	1.16E-4	ENSG00000133328	ENST00000255695	T	0.45276	0.9	4.86	-0.381	0.12485	.	0.194727	0.29253	U	0.012692	T	0.57272	0.2042	M	0.89163	3.01	0.09310	N	1	D	0.69078	0.997	D	0.63957	0.92	T	0.49790	-0.8902	10	0.54805	T	0.06	-1.4955	2.6373	0.04961	0.132:0.4194:0.2856:0.1631	.	18	Q9NWW9	HRSL2_HUMAN	H	18	ENSP00000255695:R18H	ENSP00000255695:R18H	R	-	2	0	HRASLS2	63084198	0.098000	0.21812	0.000000	0.03702	0.886000	0.51366	1.077000	0.30741	-0.225000	0.09913	0.563000	0.77884	CGC	HRASLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396631.1		-	ENST00000255695.1	Missense_Mutation	SNP	11 : 63327622 - 63327622 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1127	200
TPM1	7168	broad.mit.edu	37	15	63356268	63356268	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63356268C>T	ENST00000288398.6	+	9	976	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L	TPM1_ENST00000317516.7_Intron|TPM1_ENST00000403994.3_Silent_p.L260L|TPM1_ENST00000559281.1_Silent_p.L224L|TPM1_ENST00000559397.1_Intron|TPM1_ENST00000559556.1_Intron|TPM1_ENST00000334895.5_Intron|TPM1_ENST00000267996.7_Intron|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000357980.4_Intron|TPM1_ENST00000358278.3_Intron|TPM1_ENST00000404484.4_Intron	NM_000366.5	NP_000357.3	P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	260					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						CATAGACGAGCTGTACGCTCA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	86	95			NA	NA	15		NA											NA				63356268		2203	4300	6503	SO:0001819	synonymous_variant			AB209041	CCDS10181.1, CCDS32262.1, CCDS32263.1, CCDS32264.1, CCDS45273.1, CCDS58368.1, CCDS58369.1	15q22.1	2014-09-17			ENSG00000140416	ENSG00000140416	7168	7168		Tropomyosins	12010	protein-coding gene	gene with protein product		191010	chromosome 15 open reading frame 13, cardiomyopathy, hypertrophic 3	C15orf13, CMH3	NA	10343096, 8205619	Standard	NM_001018004	XM_005254637	NA	Approved		uc002all.3	P09493	OTTHUMG00000132803	ENST00000288398.6:c.778C>T	15.37:g.63356268C>T		NA	B7Z5T7|P09494|P10469|Q6DV89|Q6DV90|Q7Z6L8|Q86W64|Q96IK2|Q9UCI1|Q9UCI2|Q9UCY9	37	CCDS10181.1																																																																																			TPM1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256220.1		+	ENST00000288398.6	Silent	SNP	15 : 63356268 - 63356268 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	172	28
RGAG1	57529	broad.mit.edu	37	X	109696078	109696078	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:109696078C>T	ENST00000465301.2	+	3	2479	c.2233C>T	c.(2233-2235)Cag>Tag	p.Q745*	RGAG1_ENST00000540313.1_Nonsense_Mutation_p.Q745*	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	745										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TGGAGGGATGCAGATGAATTC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	136	142			NA	NA	X		NA											NA				109696078		2203	4300	6503	SO:0001587	stop_gained			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978	57529	57529			29245	protein-coding gene	gene with protein product					NA	10718198, 15716091, 16093683	Standard	NM_020769	NM_020769	NA	Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.2233C>T	X.37:g.109696078C>T	ENSP00000419786:p.Gln745*	NA	Q9P2M8	37	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093506	0.76756	.	.	ENSG00000243978	ENST00000465301;ENST00000540313	.	.	.	4.15	3.28	0.37604	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0686	0.47989	0.0:0.8149:0.1851:0.0	.	.	.	.	X	745	.	.	Q	+	1	0	RGAG1	109582734	0.004000	0.15560	0.011000	0.14972	0.023000	0.10783	1.169000	0.31871	1.087000	0.41251	0.600000	0.82982	CAG	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057906.2		+	ENST00000465301.2	Nonsense_Mutation	SNP	X : 109696078 - 109696078 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	378	103
USP32	84669	broad.mit.edu	37	17	58422960	58422960	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58422960A>G	ENST00000300896.4	-	2	262	c.68T>C	c.(67-69)gTa>gCa	p.V23A	USP32_ENST00000393003.3_Missense_Mutation_p.V23A	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	23					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TTTTAGCTCTACATCTGTAAC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	95	99			NA	NA	17		NA											NA				58422960		2203	4300	6503	SO:0001583	missense			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832	84669	84669		Ubiquitin-specific peptidases, EF-hand domain containing	19143	protein-coding gene	gene with protein product		607740	ubiquitin specific protease 32		NA	12838346	Standard	NM_032582	NM_032582	NA	Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.68T>C	17.37:g.58422960A>G	ENSP00000300896:p.Val23Ala	NA	Q9BX85|Q9Y591	37	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	A	7.100	0.573970	0.13623	.	.	ENSG00000170832	ENST00000300896;ENST00000393003	T;T	0.39997	1.05;1.05	4.93	4.93	0.64822	EF-hand-like domain (1);	0.347798	0.28847	N	0.013949	T	0.30947	0.0781	L	0.38531	1.155	0.40988	D	0.984836	B;B	0.23316	0.083;0.002	B;B	0.19946	0.027;0.002	T	0.10823	-1.0613	10	0.07482	T	0.82	.	14.3196	0.66476	1.0:0.0:0.0:0.0	.	23;23	Q7Z5T3;Q8NFA0	.;UBP32_HUMAN	A	23	ENSP00000300896:V23A;ENSP00000376727:V23A	ENSP00000300896:V23A	V	-	2	0	USP32	55777742	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.133000	0.77259	1.867000	0.54127	0.444000	0.29173	GTA	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449235.2		-	ENST00000300896.4	Missense_Mutation	SNP	17 : 58422960 - 58422960 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	378	65
HS3ST2	9956	broad.mit.edu	37	16	22926574	22926574	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22926574G>A	ENST00000261374.3	+	2	1229	c.795G>A	c.(793-795)ccG>ccA	p.P265P		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	265						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		AGTACTTCCCGCTAGCTCAGA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	99	102			NA	NA	16		NA											NA				22926574		2197	4300	6497	SO:0001819	synonymous_variant			AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	9956	9956	2.8.2.23	Sulfotransferases, membrane-bound	5195	protein-coding gene	gene with protein product		604056			NA	9988767	Standard	NM_006043	NM_006043	NA	Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.795G>A	16.37:g.22926574G>A		NA	Q52LZ1	37	CCDS10606.1																																																																																			HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000211598.1		+	ENST00000261374.3	Silent	SNP	16 : 22926574 - 22926574 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	729	197
UBQLN1	29979	broad.mit.edu	37	9	86278795	86278795	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86278795G>T	ENST00000376395.4	-	10	2135	c.1612C>A	c.(1612-1614)Cct>Act	p.P538T	UBQLN1_ENST00000257468.7_Missense_Mutation_p.P510T	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	538				NP -> YS (in Ref. 4; BAB20436).	apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						GATACCTGAGGATTTACTCCA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(186;1284 2073 12755 14558 18426)							NA				0													129	120	123			NA	NA	9		NA											NA				86278795		2203	4300	6503	SO:0001583	missense			AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018	29979	29979		Ubiquilin family	12508	protein-coding gene	gene with protein product		605046			NA	9303440, 10807547	Standard	NM_013438	NM_013438	NA	Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.1612C>A	9.37:g.86278795G>T	ENSP00000365576:p.Pro538Thr	NA	Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	37	CCDS6663.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237373	0.39498	.	.	ENSG00000135018	ENST00000376395;ENST00000257468	T;T	0.42513	0.97;0.97	5.74	4.84	0.62591	.	0.070583	0.64402	D	0.000013	T	0.37999	0.1024	M	0.64567	1.98	0.34088	D	0.660352	B;B	0.19706	0.004;0.038	B;B	0.15052	0.012;0.01	T	0.43410	-0.9393	10	0.23302	T	0.38	.	11.1769	0.48606	0.0745:0.1609:0.7645:0.0	.	510;538	Q9UMX0-2;Q9UMX0	.;UBQL1_HUMAN	T	538;510	ENSP00000365576:P538T;ENSP00000257468:P510T	ENSP00000257468:P510T	P	-	1	0	UBQLN1	85468615	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.761000	0.47589	2.695000	0.91970	0.655000	0.94253	CCT	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052834.1		-	ENST00000376395.4	Missense_Mutation	SNP	9 : 86278795 - 86278795 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	66
PKHD1L1	93035	broad.mit.edu	37	8	110442244	110442244	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110442244C>A	ENST00000378402.5	+	27	3311	c.3207C>A	c.(3205-3207)gtC>gtA	p.V1069V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1069	IPT/TIG 4.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTCCCCTAGTCTTGGCGATAA	0.368		NA								HNSCC(38;0.096)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	110	115			NA	NA	8		NA											NA				110442244		1871	4112	5983	SO:0001819	synonymous_variant			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038	93035	93035			20313	protein-coding gene	gene with protein product		607843			NA	12620974	Standard	NM_177531	NM_177531	NA	Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.3207C>A	8.37:g.110442244C>A		NA	Q567P2|Q9UF27	37	CCDS47911.1																																																																																			PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381017.1		+	ENST00000378402.5	Silent	SNP	8 : 110442244 - 110442244 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	125	21
WDR89	112840	broad.mit.edu	37	14	64066119	64066119	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64066119C>T	ENST00000394942.2	-	2	630	c.542G>A	c.(541-543)aGc>aAc	p.S181N	WDR89_ENST00000267522.3_Missense_Mutation_p.S181N	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	181										endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		GTTGGGATTGCTGGGATGGAA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	129	132			NA	NA	14		NA											NA				64066119		2203	4300	6503	SO:0001583	missense			AF115513	CCDS9759.1	14q23.2	2013-01-09		2006-07-07	ENSG00000140006	ENSG00000140006	112840	112840		WD repeat domain containing	20489	protein-coding gene	gene with protein product				C14orf150	NA		Standard	NM_080666	NM_080666	NA	Approved	MGC9907	uc001xgi.4	Q96FK6	OTTHUMG00000140340	ENST00000394942.2:c.542G>A	14.37:g.64066119C>T	ENSP00000378399:p.Ser181Asn	NA		37	CCDS9759.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.303448	0.23736	.	.	ENSG00000140006	ENST00000394942;ENST00000267522;ENST00000554717	T;T;T	0.60920	0.15;0.15;0.15	6.02	1.5	0.22942	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.585075	0.19934	N	0.102794	T	0.23649	0.0572	N	0.02854	-0.475	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.07809	-1.0753	10	0.21014	T	0.42	.	1.9776	0.03419	0.1223:0.4161:0.2101:0.2514	.	181	Q96FK6	WDR89_HUMAN	N	181	ENSP00000378399:S181N;ENSP00000267522:S181N;ENSP00000451702:S181N	ENSP00000267522:S181N	S	-	2	0	WDR89	63135872	0.000000	0.05858	0.997000	0.53966	0.991000	0.79684	0.056000	0.14256	0.887000	0.36136	0.650000	0.86243	AGC	WDR89-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411879.2		-	ENST00000394942.2	Missense_Mutation	SNP	14 : 64066119 - 64066119 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	556	100
ZNF514	84874	broad.mit.edu	37	2	95818951	95818951	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95818951C>T	ENST00000295208.2	-	3	510	c.48G>A	c.(46-48)ggG>ggA	p.G16G	ZNF514_ENST00000411425.1_Silent_p.G16G	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	16	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						GGTTCAGCTGCCCCCACTCCC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	77	78			NA	NA	2		NA											NA				95818951		2203	4300	6503	SO:0001819	synonymous_variant			AL832263	CCDS2011.1	2q11.2	2013-01-08			ENSG00000144026	ENSG00000144026	84874	84874		Zinc fingers, C2H2-type, -	25894	protein-coding gene	gene with protein product					NA		Standard	NM_032788	NM_032788	NA	Approved	FLJ14457	uc002sue.1	Q96K75	OTTHUMG00000130391	ENST00000295208.2:c.48G>A	2.37:g.95818951C>T		NA	Q5JPJ3	37	CCDS2011.1																																																																																			ZNF514-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252769.1		-	ENST00000295208.2	Silent	SNP	2 : 95818951 - 95818951 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	480	44
ATP5C1	509	broad.mit.edu	37	10	7840983	7840983	+	Missense_Mutation	SNP	C	C	T	rs146307767	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7840983C>T	ENST00000356708.7	+	4	333	c.254C>T	c.(253-255)cCt>cTt	p.P85L	ATP5C1_ENST00000541227.1_Missense_Mutation_p.P38L|ATP5C1_ENST00000335698.4_Missense_Mutation_p.P85L|ATP5C1_ENST00000493053.1_3'UTR	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	85					oxidative phosphorylation|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						ATCAAGGGGCCTGAAGACAAG	0.358		NA											C	2	9e-04	0.0041	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	9e-04	1	LOWCOV,EXOME	NA	NA	6e-04	SNP	Melanoma(143;1012 1820 16249 30920 33158)							NA				0													104	95	98			NA	NA	10		NA											NA				7840983		2203	4300	6503	SO:0001583	missense			D16561	CCDS7081.1, CCDS31142.1	10p14	2012-10-12			ENSG00000165629	ENSG00000165629	509	509		Mitochondrial respiratory chain complex / Complex V, ATPases / F-type	833	protein-coding gene	gene with protein product		108729		ATP5CL1, ATP5C	NA	8168843, 8227057	Standard	NM_005174	NM_005174	NA	Approved		uc001iju.3	P36542	OTTHUMG00000017639	ENST00000356708.7:c.254C>T	10.37:g.7840983C>T	ENSP00000349142:p.Pro85Leu	NA	A8KA31|Q5VYP3|Q96AS8	37	CCDS31142.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	12.33	1.905580	0.33628	.	.	ENSG00000165629	ENST00000356708;ENST00000335698;ENST00000541227	.	.	.	5.46	4.51	0.55191	ATPase, F1 complex, gamma subunit domain (1);	0.046924	0.85682	D	0.000000	T	0.45054	0.1323	N	0.16233	0.39	0.80722	D	1	B	0.24920	0.114	B	0.31495	0.131	T	0.35699	-0.9778	9	0.32370	T	0.25	-14.5997	16.1868	0.81960	0.1332:0.8667:0.0:0.0	.	85	P36542	ATPG_HUMAN	L	85;85;38	.	ENSP00000338568:P85L	P	+	2	0	ATP5C1	7880989	0.995000	0.38212	0.992000	0.48379	0.402000	0.30811	5.706000	0.68362	2.713000	0.92767	0.655000	0.94253	CCT	ATP5C1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046708.1		+	ENST00000356708.7	Missense_Mutation	SNP	10 : 7840983 - 7840983 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	400	83
ERBB4	2066	broad.mit.edu	37	2	212488760	212488760	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212488760G>A	ENST00000342788.4	-	18	2399	c.2089C>T	c.(2089-2091)Cca>Tca	p.P697S	ERBB4_ENST00000436443.1_Missense_Mutation_p.P697S|ERBB4_ENST00000402597.1_Missense_Mutation_p.P687S	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	697					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GGAGTTAATGGTTCCACCAAC	0.458		NA								TSP Lung(8;0.080)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	98	99			NA	NA	2		NA											NA				212488760		2203	4300	6503	SO:0001583	missense			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568	2066	2066			3432	protein-coding gene	gene with protein product		600543	v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4		NA	7700649, 17018285	Standard	NM_001042599	NM_001042599	NA	Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2089C>T	2.37:g.212488760G>A	ENSP00000342235:p.Pro697Ser	NA	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	37	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027476	0.93518	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.76316	-0.99;-0.99;-1.01	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.88779	0.6529	M	0.76328	2.33	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.997;0.998	D;D;P;P	0.85130	0.911;0.997;0.863;0.861	D	0.88800	0.3284	10	0.87932	D	0	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	687;687;697;697	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	S	697;697;687	ENSP00000342235:P697S;ENSP00000403204:P697S;ENSP00000385565:P687S	ENSP00000342235:P697S	P	-	1	0	ERBB4	212197005	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.837000	0.99465	2.805000	0.96524	0.655000	0.94253	CCA	ERBB4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256597.1		-	ENST00000342788.4	Missense_Mutation	SNP	2 : 212488760 - 212488760 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	394	76
XCR1	2829	broad.mit.edu	37	3	46062946	46062946	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46062946G>A	ENST00000309285.3	-	2	850	c.494C>T	c.(493-495)aCc>aTc	p.T165I	XCR1_ENST00000542109.1_Missense_Mutation_p.T165I	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	165					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GTGGAAGATGGTGTCGAGGAT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	61	61			NA	NA	3		NA											NA				46062946		2203	4300	6503	SO:0001583	missense				CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578	2829	2829		GPCR / Class A : Chemokine receptors : X-C motif	1625	protein-coding gene	gene with protein product		600552	chemokine (C motif) XC receptor 1	GPR5, CCXCR1	NA	7832990, 10400311	Standard		NM_005283	NA	Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.494C>T	3.37:g.46062946G>A	ENSP00000310405:p.Thr165Ile	NA		37	CCDS2736.1	.	.	.	.	.	.	.	.	.	.	G	0.399	-0.919378	0.02396	.	.	ENSG00000173578	ENST00000309285;ENST00000542109	T;T	0.36520	1.25;1.25	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.773393	0.12567	N	0.457631	T	0.12860	0.0312	N	0.02266	-0.62	0.19575	N	0.999965	B	0.14012	0.009	B	0.13407	0.009	T	0.31724	-0.9933	10	0.02654	T	1	.	7.2787	0.26300	0.2029:0.0:0.7971:0.0	.	165	P46094	XCR1_HUMAN	I	165	ENSP00000310405:T165I;ENSP00000438119:T165I	ENSP00000310405:T165I	T	-	2	0	XCR1	46037950	0.004000	0.15560	0.246000	0.24233	0.005000	0.04900	1.657000	0.37366	2.626000	0.88956	0.650000	0.86243	ACC	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257322.2		-	ENST00000309285.3	Missense_Mutation	SNP	3 : 46062946 - 46062946 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	208	34
NISCH	11188	broad.mit.edu	37	3	52521339	52521339	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52521339C>T	ENST00000479054.1	+	17	1903	c.1831C>T	c.(1831-1833)Cgg>Tgg	p.R611W	NISCH_ENST00000345716.4_Missense_Mutation_p.R611W			Q9Y2I1	NISCH_HUMAN	nischarin	611	Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CACACTGATCCGGCAGGCCAT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	69	70			NA	NA	3		NA											NA				52521339		2203	4300	6503	SO:0001583	missense			AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322	11188	11188			18006	protein-coding gene	gene with protein product	imidazoline receptor candidate, I-1 receptor candidate protein, imidazoline receptor antisera selected	615507			NA	11912194, 10882231	Standard	NM_007184	NM_007184	NA	Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.1831C>T	3.37:g.52521339C>T	ENSP00000418232:p.Arg611Trp	NA	C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	37	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.712228	0.30322	.	.	ENSG00000010322	ENST00000479054;ENST00000345716	T;T	0.08370	3.1;3.1	5.57	3.62	0.41486	.	0.591513	0.17374	N	0.176564	T	0.09686	0.0238	N	0.19112	0.55	0.30804	N	0.739515	D	0.89917	1.0	P	0.58577	0.841	T	0.10497	-1.0627	10	0.52906	T	0.07	-16.6294	3.0479	0.06160	0.1943:0.5162:0.1954:0.0941	.	611	Q9Y2I1	NISCH_HUMAN	W	611	ENSP00000418232:R611W;ENSP00000339958:R611W	ENSP00000339958:R611W	R	+	1	2	NISCH	52496379	0.980000	0.34600	0.997000	0.53966	0.030000	0.12068	1.052000	0.30429	1.372000	0.46190	-0.145000	0.13849	CGG	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351357.1		+	ENST00000479054.1	Missense_Mutation	SNP	3 : 52521339 - 52521339 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	688	118
GMEB1	10691	broad.mit.edu	37	1	29030754	29030754	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29030754G>A	ENST00000373816.1	+	8	919	c.781G>A	c.(781-783)Gag>Aag	p.E261K	GMEB1_ENST00000294409.2_Missense_Mutation_p.E271K|GMEB1_ENST00000361872.4_Missense_Mutation_p.E261K|GMEB1_ENST00000480454.1_3'UTR	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGATGGAAGAGGTTGTCTG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	140	140			NA	NA	1		NA											NA				29030754		2203	4300	6503	SO:0001583	missense			AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419	10691	10691			4370	protein-coding gene	gene with protein product		604409			NA	10386584, 10523663	Standard	NM_006582	NM_006582	NA	Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000373816.1:c.781G>A	1.37:g.29030754G>A	ENSP00000362922:p.Glu261Lys	NA	B1AT48|Q9NWH1|Q9UKD0	37	CCDS328.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466274	0.84425	.	.	ENSG00000162419	ENST00000373816;ENST00000456852;ENST00000361872;ENST00000294409	T;T;T	0.62498	0.03;0.03;0.02	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.69269	0.3092	L	0.43152	1.355	0.38376	D	0.944996	D;D	0.61697	0.99;0.99	P;P	0.54629	0.757;0.757	T	0.72427	-0.4297	10	0.62326	D	0.03	-11.8053	19.0481	0.93030	0.0:0.0:1.0:0.0	.	271;261	Q9Y692;B1AT47	GMEB1_HUMAN;.	K	261;237;261;271	ENSP00000362922:E261K;ENSP00000355186:E261K;ENSP00000294409:E271K	ENSP00000294409:E271K	E	+	1	0	GMEB1	28903341	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.358000	0.79466	2.808000	0.96608	0.650000	0.86243	GAG	GMEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000010331.1		+	ENST00000373816.1	Missense_Mutation	SNP	1 : 29030754 - 29030754 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	484	99
WDR35	57539	broad.mit.edu	37	2	20133266	20133266	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:20133266C>T	ENST00000345530.3	-	23	2702	c.2587G>A	c.(2587-2589)Gca>Aca	p.A863T	WDR35_ENST00000416055.2_Intron|WDR35_ENST00000281405.4_Missense_Mutation_p.A852T	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	863										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACATTTGTGCTATTTCCTGT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	96	101			NA	NA	2		NA											NA				20133266		2203	4300	6503	SO:0001583	missense			AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965	57539	57539		WD repeat domain containing, Intraflagellar transport homologs	29250	protein-coding gene	gene with protein product		613602			NA	10718198	Standard	NM_020779	NM_001006657	NA	Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.2587G>A	2.37:g.20133266C>T	ENSP00000314444:p.Ala863Thr	NA	B3KVI5|Q4ZG01|Q8NE11	37	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.567960	0.65651	.	.	ENSG00000118965	ENST00000345530;ENST00000281405	T;T	0.30448	1.53;1.53	5.29	5.29	0.74685	.	0.058201	0.64402	D	0.000002	T	0.55737	0.1939	M	0.80422	2.495	0.80722	D	1	D;D	0.62365	0.987;0.991	P;P	0.58820	0.843;0.846	T	0.61618	-0.7026	10	0.87932	D	0	-13.325	18.2704	0.90066	0.0:1.0:0.0:0.0	.	852;863	Q9P2L0-2;Q9P2L0	.;WDR35_HUMAN	T	863;852	ENSP00000314444:A863T;ENSP00000281405:A852T	ENSP00000281405:A852T	A	-	1	0	WDR35	19996747	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.450000	0.80656	2.635000	0.89317	0.563000	0.77884	GCA	WDR35-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207472.2		-	ENST00000345530.3	Missense_Mutation	SNP	2 : 20133266 - 20133266 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	79
CA9	768	broad.mit.edu	37	9	35675756	35675756	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35675756A>G	ENST00000378357.4	+	3	537		c.e3-1			NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	NA					one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTCCCACCCCAGGCGACCCGC	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	15	14			NA	NA	9		NA											NA				35675756		2014	4203	6217	SO:0001630	splice_region_variant			X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159	768	768		Carbonic anhydrases	1383	protein-coding gene	gene with protein product	carbonic dehydratase, RCC-associated protein G250	603179			NA	8661007, 9787087	Standard	NM_001216	NM_001216	NA	Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029	ENST00000378357.4:c.434-1A>G	9.37:g.35675756A>G		NA	Q5T4R1	37	CCDS6585.1	.	.	.	.	.	.	.	.	.	.	A	15.71	2.913709	0.52439	.	.	ENSG00000107159	ENST00000378357;ENST00000544074	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9181	0.47148	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CA9	35665756	0.999000	0.42202	0.665000	0.29768	0.679000	0.39708	3.086000	0.50159	2.071000	0.62044	0.379000	0.24179	.	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055479.1	Intron	+	ENST00000378357.4	Splice_Site	SNP	9 : 35675756 - 35675756 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	258	12
PDXK	8566	broad.mit.edu	37	21	45175635	45175635	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45175635G>A	ENST00000291565.4	+	10	999	c.816G>A	c.(814-816)caG>caA	p.Q272Q	PDXK_ENST00000467908.1_Silent_p.Q232Q|PDXK_ENST00000468090.1_Silent_p.Q244Q	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	272					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	GGACCATCCAGTGTGCAAAAG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	92	103			NA	NA	21		NA											NA				45175635		2203	4300	6503	SO:0001819	synonymous_variant			U89606	CCDS13699.1	21q22.3	2007-05-10			ENSG00000160209	ENSG00000160209	8566	8566	2.7.1.35		8819	protein-coding gene	gene with protein product		179020	chromosome 21 open reading frame 97, chromosome 21 open reading frame 124	C21orf97, C21orf124	NA	9099727	Standard	NM_003681	NM_003681	NA	Approved	PNK, PKH, FLJ21324, PRED79, FLJ31940, MGC15873	uc002zdm.4	O00764	OTTHUMG00000086870	ENST00000291565.4:c.816G>A	21.37:g.45175635G>A		NA	Q7Z2Y0|Q9BS02	37	CCDS13699.1																																																																																			PDXK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195636.1		+	ENST00000291565.4	Silent	SNP	21 : 45175635 - 45175635 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	501	54
PARVG	64098	broad.mit.edu	37	22	44583713	44583713	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44583713C>T	ENST00000444313.3	+	5	686	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	PARVG_ENST00000415224.1_Silent_p.L68L|PARVG_ENST00000422871.1_Silent_p.L68L	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	NA	CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				GGTCCGCAGCCTGGAGGAGGA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	135	151			NA	NA	22		NA											NA				44583713		2203	4300	6503	SO:0001819	synonymous_variant			AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964	64098	64098		Parvins	14654	protein-coding gene	gene with protein product		608122			NA	11171322	Standard	NM_022141	NM_022141	NA	Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.202C>T	22.37:g.44583713C>T		NA	Q9BQX5|Q9NSG1	37	CCDS14057.1																																																																																			PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318238.4		+	ENST00000444313.3	Silent	SNP	22 : 44583713 - 44583713 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	68
CNNM2	54805	broad.mit.edu	37	10	104836929	104836929	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104836929G>A	ENST00000369878.4	+	8	2808	c.2620G>A	c.(2620-2622)Gcc>Acc	p.A874T	CNNM2_ENST00000433628.2_Missense_Mutation_p.A852T	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	NA					ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CAACGAAGGCGCCATCTAGGC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	66	64			NA	NA	10		NA											NA				104836929		2120	4225	6345	SO:0001583	missense			AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842	54805	54805			103	protein-coding gene	gene with protein product		607803	cyclin M2	ACDP2	NA	21393841, 24699222	Standard	NM_017649	NM_017649	NA	Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.2620G>A	10.37:g.104836929G>A	ENSP00000358894:p.Ala874Thr	NA	Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	37	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049847	0.75846	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369878;ENST00000345419;ENST00000541201	T	0.74737	-0.87	5.69	5.69	0.88448	.	0.119569	0.56097	D	0.000025	T	0.55561	0.1928	N	0.14661	0.345	0.39100	D	0.961268	P;P	0.42871	0.792;0.688	B;B	0.31245	0.126;0.059	T	0.66424	-0.5927	10	0.59425	D	0.04	.	15.2976	0.73922	0.0:0.1395:0.8605:0.0	.	852;874	Q9H8M5-2;Q9H8M5	.;CNNM2_HUMAN	T	875;853;874;852;573	ENSP00000358894:A874T	ENSP00000286899:A852T	A	+	1	0	CNNM2	104826919	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	2.188000	0.42612	2.677000	0.91161	0.555000	0.69702	GCC	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050113.3		+	ENST00000369878.4	Missense_Mutation	SNP	10 : 104836929 - 104836929 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	390	68
EPHA7	2045	broad.mit.edu	37	6	94124474	94124474	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:94124474C>T	ENST00000369303.4	-	2	293	c.109G>A	c.(109-111)Gat>Aat	p.D37N	EPHA7_ENST00000369297.1_Missense_Mutation_p.D37N	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	37						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GCTTTAGAATCCAGCAGTAGT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	87	88			NA	NA	6		NA											NA				94124474		2203	4298	6501	SO:0001583	missense			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333	2045	2045		EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3390	protein-coding gene	gene with protein product		602190	EphA7		NA	9267020	Standard		NM_004440	NA	Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.109G>A	6.37:g.94124474C>T	ENSP00000358309:p.Asp37Asn	NA	A0AUX7|B2R8W1|B7ZLJ9|Q59G40|Q5VTU0|Q8N368|Q9H124	37	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578356	0.65878	.	.	ENSG00000135333	ENST00000369303;ENST00000369297	T;T	0.12879	2.64;2.64	5.67	5.67	0.87782	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.100727	0.64402	D	0.000006	T	0.11965	0.0291	L	0.47716	1.5	0.80722	D	1	B;B;P;P	0.39443	0.008;0.078;0.623;0.674	B;B;B;B	0.42827	0.007;0.055;0.278;0.399	T	0.01030	-1.1475	10	0.72032	D	0.01	.	17.5467	0.87864	0.0:1.0:0.0:0.0	.	37;37;37;37	Q15375-4;Q15375-3;Q15375-2;Q15375	.;.;.;EPHA7_HUMAN	N	37	ENSP00000358309:D37N;ENSP00000358303:D37N	ENSP00000358303:D37N	D	-	1	0	EPHA7	94181195	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.691000	0.68249	2.672000	0.90937	0.555000	0.69702	GAT	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041545.1		-	ENST00000369303.4	Missense_Mutation	SNP	6 : 94124474 - 94124474 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	201	24
TEX15	56154	broad.mit.edu	37	8	30700178	30700178	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30700178G>A	ENST00000256246.2	-	1	6430	c.6356C>T	c.(6355-6357)tCa>tTa	p.S2119L		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2119										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AACATCTGTTGAGTTATCTTT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	58	57			NA	NA	8		NA											NA				30700178		2203	4299	6502	SO:0001583	missense			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863	56154	56154			11738	protein-coding gene	gene with protein product	cancer/testis antigen 42	605795	testis expressed sequence 15		NA	11279525	Standard		NM_031271	NA	Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.6356C>T	8.37:g.30700178G>A	ENSP00000256246:p.Ser2119Leu	NA		37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.461201	0.26248	.	.	ENSG00000133863	ENST00000256246	T	0.11604	2.76	5.68	4.78	0.61160	.	0.545093	0.16589	N	0.207875	T	0.11281	0.0275	L	0.54323	1.7	0.09310	N	1	B	0.32365	0.367	B	0.30316	0.114	T	0.23940	-1.0174	10	0.87932	D	0	.	7.0698	0.25171	0.0866:0.0:0.7338:0.1796	.	2119	Q9BXT5	TEX15_HUMAN	L	2119	ENSP00000256246:S2119L	ENSP00000256246:S2119L	S	-	2	0	TEX15	30819720	0.998000	0.40836	0.017000	0.16124	0.967000	0.64934	3.336000	0.52113	1.336000	0.45506	0.591000	0.81541	TCA	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376193.1		-	ENST00000256246.2	Missense_Mutation	SNP	8 : 30700178 - 30700178 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	298	51
KCND2	3751	broad.mit.edu	37	7	119915287	119915287	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:119915287G>A	ENST00000331113.4	+	1	1566	c.601G>A	c.(601-603)Gcg>Acg	p.A201T		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	201					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					CTCTGTCATCGCGAATGTGGT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	97	99			NA	NA	7		NA											NA				119915287		2203	4300	6503	SO:0001583	missense			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408	3751	3751		Potassium channels, Voltage-gated ion channels / Potassium channels	6238	protein-coding gene	gene with protein product		605410			NA	10551270, 16382104	Standard	NM_012281	NM_012281	NA	Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.601G>A	7.37:g.119915287G>A	ENSP00000333496:p.Ala201Thr	NA	O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	37	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.178077	0.38511	.	.	ENSG00000184408	ENST00000331113	D	0.97378	-4.36	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.93367	0.7885	N	0.21282	0.65	0.58432	D	0.999998	B	0.27732	0.187	B	0.20384	0.029	D	0.90746	0.4653	9	.	.	.	.	19.5831	0.95478	0.0:0.0:1.0:0.0	.	201	Q9NZV8	KCND2_HUMAN	T	201	ENSP00000333496:A201T	.	A	+	1	0	KCND2	119702523	1.000000	0.71417	0.999000	0.59377	0.809000	0.45718	3.701000	0.54793	2.641000	0.89580	0.563000	0.77884	GCG	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346996.1		+	ENST00000331113.4	Missense_Mutation	SNP	7 : 119915287 - 119915287 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	70
SUN1	23353	broad.mit.edu	37	7	897557	897557	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:897557A>C	ENST00000405266.1	+	14	1622	c.1598A>C	c.(1597-1599)aAg>aCg	p.K533T	SUN1_ENST00000452783.2_Missense_Mutation_p.K393T|SUN1_ENST00000389574.3_Missense_Mutation_p.K413T|SUN1_ENST00000425407.2_Missense_Mutation_p.K413T|SUN1_ENST00000456758.2_Missense_Mutation_p.K685T|SUN1_ENST00000401592.1_Missense_Mutation_p.K496T|SUN1_ENST00000413514.2_Missense_Mutation_p.K294T			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	523					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGACACGTGAAGACCGGCTGT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	144	140			NA	NA	7		NA											NA				897557		2022	4169	6191	SO:0001583	missense			AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828	23353	23353			18587	protein-coding gene	gene with protein product	Sad1 unc-84 domain protein 1	607723	unc-84 homolog A (C. elegans)	UNC84A	NA	11593002	Standard	NM_025154	NM_001130965	NA	Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.1598A>C	7.37:g.897557A>C	ENSP00000384116:p.Lys533Thr	NA	B3KMV7|B7WNY4|B7WP53|Q96CZ7|Q9HA14|Q9UH98	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.11|13.11	2.138399|2.138399	0.37728|0.37728	.|.	.|.	ENSG00000164828|ENSG00000164828	ENST00000433212|ENST00000456758;ENST00000389574;ENST00000452783;ENST00000405266;ENST00000401592;ENST00000297445;ENST00000425407;ENST00000429178;ENST00000413514	.|T;T;T;T;T;T;T;T	.|0.27557	.|2.05;2.07;2.08;2.08;2.08;2.07;1.73;1.66	5.15|5.15	-0.28|-0.28	0.12886|0.12886	.|.	.|0.638636	.|0.17424	.|N	.|0.174706	T|T	0.41073|0.41073	0.1143|0.1143	M|M	0.63428|0.63428	1.95|1.95	0.09310|0.09310	N|N	1|1	.|P;B;P;D;P;P	.|0.59767	.|0.865;0.159;0.722;0.986;0.868;0.953	.|P;B;P;P;B;P	.|0.60949	.|0.675;0.379;0.488;0.881;0.316;0.766	T|T	0.21827|0.21827	-1.0234|-1.0234	5|10	.|0.66056	.|D	.|0.02	-14.0397|-14.0397	5.5309|5.5309	0.16985|0.16985	0.6499:0.1335:0.2167:0.0|0.6499:0.1335:0.2167:0.0	.|.	.|294;393;496;685;523;413	.|E7EP45;E9PDU4;E9PF23;A4D2Q0;O94901;O94901-5	.|.;.;.;.;SUN1_HUMAN;.	D|T	344|685;413;393;533;496;523;413;421;294	.|ENSP00000388743:K685T;ENSP00000374225:K413T;ENSP00000413439:K393T;ENSP00000384116:K533T;ENSP00000384015:K496T;ENSP00000392309:K413T;ENSP00000409909:K421T;ENSP00000389313:K294T	.|ENSP00000297445:K523T	E|K	+|+	3|2	2|0	SUN1|SUN1	864083|864083	0.101000|0.101000	0.21875|0.21875	0.000000|0.000000	0.03702|0.03702	0.011000|0.011000	0.07611|0.07611	0.341000|0.341000	0.19909|0.19909	-0.214000|-0.214000	0.10078|0.10078	-0.274000|-0.274000	0.10170|0.10170	GAA|AAG	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000322566.1		+	ENST00000405266.1	Missense_Mutation	SNP	7 : 897557 - 897557 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1012	77
PPP1R21	129285	broad.mit.edu	37	2	48725768	48725768	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48725768C>T	ENST00000294952.8	+	17	1986	c.1829C>T	c.(1828-1830)gCc>gTc	p.A610V	PPP1R21_ENST00000449090.2_Missense_Mutation_p.A579V|PPP1R21_ENST00000281394.4_Missense_Mutation_p.A610V	NM_001135629.2	NP_001129101.1	Q6ZMI0	KLRAQ_HUMAN	protein phosphatase 1, regulatory subunit 21	610										endometrium(2)|kidney(4)|lung(9)	15						ACAGGTAGTGCCCAGCTGGTT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	98	101			NA	NA	2		NA											NA				48725768		2203	4300	6503	SO:0001583	missense			AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869	129285	129285		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	30595	protein-coding gene	gene with protein product			coiled-coil domain containing 128, KLRAQ motif containing 1	CCDC128, KLRAQ1	NA	12477932	Standard	NM_152994	NM_001135629	NA	Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.1829C>T	2.37:g.48725768C>T	ENSP00000294952:p.Ala610Val	NA	B7ZKY5|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	37	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	C	9.136	1.012605	0.19277	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.87	3.0	0.34707	.	0.258920	0.43579	D	0.000546	T	0.31482	0.0798	N	0.22421	0.69	0.22342	N	0.999182	P;B;B	0.35242	0.492;0.211;0.437	B;B;B	0.34931	0.192;0.192;0.121	T	0.09487	-1.0672	9	0.27082	T	0.32	-6.5177	18.6217	0.91323	0.0:0.3942:0.6057:0.0	.	579;610;610	E1B6W7;Q6ZMI0;Q6ZMI0-2	.;PPR21_HUMAN;.	V	610;610;579	.	ENSP00000281394:A610V	A	+	2	0	KLRAQ1	48579272	1.000000	0.71417	0.982000	0.44146	0.226000	0.24999	1.897000	0.39799	0.805000	0.34159	-0.133000	0.14855	GCC	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251238.4		+	ENST00000294952.8	Missense_Mutation	SNP	2 : 48725768 - 48725768 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	281	50
THOC5	8563	broad.mit.edu	37	22	29913321	29913321	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29913321C>A	ENST00000490103.1	-	16	1646	c.1524G>T	c.(1522-1524)caG>caT	p.Q508H	CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Missense_Mutation_p.Q508H|THOC5_ENST00000397872.1_Missense_Mutation_p.Q508H|THOC5_ENST00000397873.2_Missense_Mutation_p.Q508H	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	508					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGAAGAGGTACTGGCAATCAC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	102	111			NA	NA	22		NA											NA				29913321		2203	4300	6503	SO:0001583	missense			AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296	8563	8563		THO complex subunits	19074	protein-coding gene	gene with protein product	functional spliceosome-associated protein 79	612733	chromosome 22 open reading frame 19	C22orf19	NA	11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678	NM_003678	NA	Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.1524G>T	22.37:g.29913321C>A	ENSP00000420306:p.Gln508His	NA	O60839|Q9UPZ5	37	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957691	0.73902	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.81	3.67	0.42095	.	0.152728	0.64402	N	0.000015	T	0.32971	0.0847	M	0.62723	1.935	0.51482	D	0.999928	D	0.56521	0.976	P	0.49999	0.628	T	0.04229	-1.0967	10	0.44086	T	0.13	-26.8255	9.7427	0.40429	0.0:0.661:0.269:0.07	.	508	Q13769	THOC5_HUMAN	H	508	ENSP00000420306:Q508H;ENSP00000380970:Q508H;ENSP00000380969:Q508H;ENSP00000380971:Q508H	ENSP00000380969:Q508H	Q	-	3	2	THOC5	28243321	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.071000	0.41500	0.752000	0.32923	0.655000	0.94253	CAG	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322097.1		-	ENST00000490103.1	Missense_Mutation	SNP	22 : 29913321 - 29913321 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	162	33
OR13C5	138799	broad.mit.edu	37	9	107360921	107360921	+	Missense_Mutation	SNP	C	C	T	rs76010537		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107360921C>T	ENST00000374779.2	-	1	867	c.774G>A	c.(772-774)atG>atA	p.M258I		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	258			M -> T (in dbSNP:rs1851724).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GCTTCATGTACATGAGGAAGA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	124	129			NA	NA	9		NA											NA				107360921		2203	4300	6503	SO:0001583	missense				CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556	138799	138799		GPCR / Class A : Olfactory receptors	15100	protein-coding gene	gene with protein product					NA		Standard	NM_001004482	NM_001004482	NA	Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.774G>A	9.37:g.107360921C>T	ENSP00000363911:p.Met258Ile	NA	B2RNE5|B9EGW5|Q6IF53	37	CCDS35091.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.271231	0.59649	.	.	ENSG00000255800	ENST00000374779	T	0.00145	8.67	4.03	2.12	0.27331	GPCR, rhodopsin-like superfamily (1);	0.395212	0.18447	U	0.140947	T	0.00178	0.0005	L	0.38175	1.15	0.22858	N	0.998648	P	0.44260	0.83	P	0.49085	0.6	T	0.42999	-0.9418	10	0.59425	D	0.04	.	6.158	0.20348	0.0:0.6722:0.0:0.3278	.	258	Q8NGS8	O13C5_HUMAN	I	258	ENSP00000363911:M258I	ENSP00000363911:M258I	M	-	3	0	OR13C5	106400742	0.038000	0.19896	0.950000	0.38849	0.296000	0.27459	0.068000	0.14531	0.925000	0.37094	0.423000	0.28283	ATG	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053479.2		-	ENST00000374779.2	Missense_Mutation	SNP	9 : 107360921 - 107360921 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	398	80
CD14	929	broad.mit.edu	37	5	140011662	140011662	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140011662C>T	ENST00000302014.6	-	2	1536	c.907G>A	c.(907-909)Gat>Aat	p.D303N	CD14_ENST00000401743.2_Missense_Mutation_p.D303N	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	303				D -> E (in Ref. 5; AAC83816).	apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCTGAGATCGAGCACTCTG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	58	58			NA	NA	5		NA											NA				140011662		2203	4300	6503	SO:0001583	missense				CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458	929	929		CD molecules	1628	protein-coding gene	gene with protein product		158120	CD14 antigen		NA	2472171, 2462937	Standard	NM_000591	NM_000591	NA	Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.907G>A	5.37:g.140011662C>T	ENSP00000304236:p.Asp303Asn	NA	Q53XT5|Q96FR6|Q96L99|Q9UNS3	37	CCDS4232.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375894	0.61735	.	.	ENSG00000170458	ENST00000302014;ENST00000401743	T;T	0.19938	2.11;2.11	6.06	4.2	0.49525	.	0.000000	0.51477	D	0.000087	T	0.19805	0.0476	M	0.64404	1.975	0.30579	N	0.762722	P	0.41947	0.766	B	0.36504	0.226	T	0.29150	-1.0021	10	0.87932	D	0	-14.6982	7.7506	0.28894	0.0:0.7523:0.1631:0.0846	.	303	P08571	CD14_HUMAN	N	303	ENSP00000304236:D303N;ENSP00000385519:D303N	ENSP00000304236:D303N	D	-	1	0	CD14	139991846	0.364000	0.24997	0.607000	0.28956	0.961000	0.63080	1.209000	0.32357	1.584000	0.49913	0.655000	0.94253	GAT	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251681.2		-	ENST00000302014.6	Missense_Mutation	SNP	5 : 140011662 - 140011662 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	278	62
PIK3R1	5295	broad.mit.edu	37	5	67575507	67575507	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:67575507C>T	ENST00000521381.1	+	5	1196	c.580C>T	c.(580-582)Cca>Tca	p.P194S	PIK3R1_ENST00000521657.1_Missense_Mutation_p.P194S|PIK3R1_ENST00000396611.1_Missense_Mutation_p.P194S|PIK3R1_ENST00000274335.5_Missense_Mutation_p.P194S	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	194	Rho-GAP.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CCTGGACTTACCAAATCCTGT	0.413		NA	Mis, F, O		gliobastoma, ovarian, colorectal					TCGA GBM(4;<1E-08)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		5	5q13.1	5295	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)		E, O	2	Whole gene deletion(1)|Unknown(1)	large_intestine(1)|lung(1)											157	144	149			NA	NA	5		NA											NA				67575507		2203	4300	6503	SO:0001583	missense			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675	5295	5295		SH2 domain containing	8979	protein-coding gene	gene with protein product		171833			NA	1314371, 18387942	Standard	NM_181504	NM_181524	NA	Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.580C>T	5.37:g.67575507C>T	ENSP00000428056:p.Pro194Ser	NA	D3DWA0|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	37	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883408	0.91740	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000520675	T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36	5.51	5.51	0.81932	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.60599	0.2281	M	0.68317	2.08	0.80722	D	1	P	0.46952	0.887	P	0.45753	0.492	T	0.64820	-0.6317	10	0.66056	D	0.02	-12.4678	19.6101	0.95602	0.0:1.0:0.0:0.0	.	194	P27986	P85A_HUMAN	S	194;194;194;194;96	ENSP00000428056:P194S;ENSP00000429277:P194S;ENSP00000379855:P194S;ENSP00000274335:P194S;ENSP00000428566:P96S	ENSP00000274335:P194S	P	+	1	0	PIK3R1	67611263	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.102000	0.71486	2.868000	0.98415	0.557000	0.71058	CCA	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254013.2		+	ENST00000521381.1	Missense_Mutation	SNP	5 : 67575507 - 67575507 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	639	122
ADAMTS20	80070	broad.mit.edu	37	12	43777426	43777426	+	Missense_Mutation	SNP	G	G	T	rs138413325		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:43777426G>T	ENST00000389420.3	-	31	4731	c.4732C>A	c.(4732-4734)Ctt>Att	p.L1578I		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1578	TSP type-1 13.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTGGATGTAAGAGATATGGTT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	134	138			NA	NA	12		NA											NA				43777426		2203	4300	6503	SO:0001583	missense			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157	80070	80070		ADAM metallopeptidases with thrombospondin type 1 motif	17178	protein-coding gene	gene with protein product		611681	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20		NA	12514189, 12562771	Standard	NM_025003	NM_025003	NA	Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4732C>A	12.37:g.43777426G>T	ENSP00000374071:p.Leu1578Ile	NA	A6NNC9	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	1.321	-0.599366	0.03744	.	.	ENSG00000173157	ENST00000389420	T	0.58797	0.31	4.7	2.8	0.32819	.	0.702414	0.12233	N	0.487297	T	0.49115	0.1538	L	0.46157	1.445	0.54753	D	0.999988	B	0.27068	0.167	B	0.22601	0.04	T	0.35475	-0.9787	10	0.36615	T	0.2	.	11.2882	0.49234	0.0:0.2552:0.6129:0.1319	.	1578	P59510	ATS20_HUMAN	I	1578	ENSP00000374071:L1578I	ENSP00000374071:L1578I	L	-	1	0	ADAMTS20	42063693	0.905000	0.30787	0.291000	0.24904	0.014000	0.08584	0.870000	0.28010	0.623000	0.30267	0.655000	0.94253	CTT	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403643.1		-	ENST00000389420.3	Missense_Mutation	SNP	12 : 43777426 - 43777426 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	180	29
MACF1	23499	broad.mit.edu	37	1	39904950	39904950	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39904950C>A	ENST00000372915.3	+	71	18009	c.17922C>A	c.(17920-17922)atC>atA	p.I5974I	MACF1_ENST00000317713.7_Silent_p.I4016I|MACF1_ENST00000545844.1_Silent_p.I4016I|MACF1_ENST00000361689.2_Silent_p.I4016I|MACF1_ENST00000289893.4_Silent_p.I4518I|MACF1_ENST00000567887.1_Silent_p.I6112I|MACF1_ENST00000539005.1_Silent_p.I3886I|MACF1_ENST00000564288.1_Silent_p.I6075I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5974					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCTCAGAAATCCAGGATAAAT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	41	40			NA	NA	1		NA											NA				39904950		2203	4300	6503	SO:0001819	synonymous_variant			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603	23499	23499		EF-hand domain containing	13664	protein-coding gene	gene with protein product	actin cross-linking factor, 620 kDa actin binding protein, macrophin 1, trabeculin-alpha, actin cross-linking family protein 7	608271			NA	7635207, 10529403	Standard	NM_033044	NM_012090	NA	Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.17922C>A	1.37:g.39904950C>A		NA	E9PJT0|O75053|Q5VW20|Q8WXY2|Q9H540|Q9UKP0|Q9ULG9	37		.	.	.	.	.	.	.	.	.	.	C	8.826	0.938741	0.18206	.	.	ENSG00000127603	ENST00000372925	.	.	.	5.86	2.75	0.32379	.	.	.	.	.	T	0.58409	0.2120	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50800	-0.8785	4	.	.	.	.	9.3164	0.37937	0.3003:0.633:0.0:0.0668	.	.	.	.	T	3020	.	.	P	+	1	0	MACF1	39677537	0.998000	0.40836	1.000000	0.80357	0.970000	0.65996	0.510000	0.22723	0.256000	0.21614	0.650000	0.86243	CCA	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000392096.1		+	ENST00000372915.3	Silent	SNP	1 : 39904950 - 39904950 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	155	13
TRIM3	10612	broad.mit.edu	37	11	6477726	6477726	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6477726G>A	ENST00000525074.1	-	6	1624	c.1230C>T	c.(1228-1230)cgC>cgT	p.R410R	TRIM3_ENST00000359518.3_Silent_p.R410R|TRIM3_ENST00000529058.1_Intron|TRIM3_ENST00000345851.3_Silent_p.R410R|TRIM3_ENST00000536344.1_Silent_p.R291R|TRIM3_ENST00000537602.1_Silent_p.R332R	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	410					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGGGCTGCCGCGCACTGGCT	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(6;5 510 1540 25169 29084)							NA				0													16	16	16			NA	NA	11		NA											NA				6477726		2191	4282	6473	SO:0001819	synonymous_variant			AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171	10612	10612		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	10064	protein-coding gene	gene with protein product	ring finger protein 22, brain expressed ring finger, tripartite motif protein TRIM3	605493	tripartite motif-containing 3	RNF22	NA	10391919	Standard	NM_006458	NM_006458	NA	Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.1230C>T	11.37:g.6477726G>A		NA	Q4V9L4|Q9C038|Q9C039	37	CCDS7764.1																																																																																			TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384224.2		-	ENST00000525074.1	Silent	SNP	11 : 6477726 - 6477726 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	189	45
RBM28	55131	broad.mit.edu	37	7	127978382	127978382	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127978382C>T	ENST00000223073.2	-	5	577	c.463G>A	c.(463-465)Ggt>Agt	p.G155S	RBM28_ENST00000415472.2_Intron	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	NA	RRM 2.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						AAACCAAAACCGCGCATCTTC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	93	96			NA	NA	7		NA											NA				127978382		2203	4300	6503	SO:0001583	missense			AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344	55131	55131		RNA binding motif (RRM) containing	21863	protein-coding gene	gene with protein product		612074			NA		Standard	NM_018077	NM_018077	NA	Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.463G>A	7.37:g.127978382C>T	ENSP00000223073:p.Gly155Ser	NA	A4D100|Q53H65|Q96CV3	37	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	C	33	5.284381	0.95517	.	.	ENSG00000106344	ENST00000223073;ENST00000459726	D;T	0.83419	-1.72;1.69	5.73	5.73	0.89815	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.93311	0.7868	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94420	0.7640	10	0.87932	D	0	-14.3256	17.3973	0.87449	0.0:1.0:0.0:0.0	.	155	Q9NW13	RBM28_HUMAN	S	155;189	ENSP00000223073:G155S;ENSP00000420503:G189S	ENSP00000223073:G155S	G	-	1	0	RBM28	127765618	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.401000	0.73256	2.712000	0.92718	0.650000	0.86243	GGT	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349442.2		-	ENST00000223073.2	Missense_Mutation	SNP	7 : 127978382 - 127978382 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	251	38
EHD3	30845	broad.mit.edu	37	2	31483495	31483495	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31483495A>C	ENST00000322054.5	+	4	907	c.622A>C	c.(622-624)Aag>Cag	p.K208Q	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	208					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CAAAGCCCTCAAGAACCACGA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	78	80			NA	NA	2		NA											NA				31483495		2203	4300	6503	SO:0001583	missense			AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016	30845	30845		EF-hand domain containing	3244	protein-coding gene	gene with protein product		605891		PAST3	NA	10673336	Standard	NM_014600	NM_014600	NA	Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.622A>C	2.37:g.31483495A>C	ENSP00000327116:p.Lys208Gln	NA	D6W574|Q8N514|Q9NZB3	37	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.988500	0.74589	.	.	ENSG00000013016	ENST00000322054	D	0.97016	-4.21	5.15	3.98	0.46160	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.96485	0.8853	M	0.62209	1.925	0.80722	D	1	P	0.48764	0.915	P	0.55161	0.77	D	0.95728	0.8772	10	0.59425	D	0.04	-38.4058	11.4487	0.50138	0.865:0.0:0.0:0.135	.	208	Q9NZN3	EHD3_HUMAN	Q	208	ENSP00000327116:K208Q	ENSP00000327116:K208Q	K	+	1	0	EHD3	31336999	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.179000	0.77665	0.957000	0.37930	0.459000	0.35465	AAG	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216810.1		+	ENST00000322054.5	Missense_Mutation	SNP	2 : 31483495 - 31483495 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	288	77
ZNF573	126231	broad.mit.edu	37	19	38229915	38229915	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38229915A>G	ENST00000392138.1	-	3	1553	c.1215T>C	c.(1213-1215)caT>caC	p.H405H	ZNF573_ENST00000590414.2_Silent_p.H492H|ZNF573_ENST00000339503.4_Silent_p.H434H|ZNF573_ENST00000536220.1_Silent_p.H404H|ZNF573_ENST00000357309.3_Silent_p.H404H			Q86YE8	ZN573_HUMAN	zinc finger protein 573	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TCTCACCAGTATGAGTTTTCC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	79	80			NA	NA	19		NA											NA				38229915		2203	4300	6503	SO:0001819	synonymous_variant			AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144	126231	126231		Zinc fingers, C2H2-type, -	26420	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152360	NM_152360	NA	Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000392138.1:c.1215T>C	19.37:g.38229915A>G		NA	B7WPE1|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	37																																																																																				ZNF573-004	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000109615.1		-	ENST00000392138.1	Silent	SNP	19 : 38229915 - 38229915 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	503	89
IFI44L	10964	broad.mit.edu	37	1	79102805	79102805	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:79102805T>A	ENST00000370751.5	+	6	1144	c.965T>A	c.(964-966)gTc>gAc	p.V322D	IFI44L_ENST00000342282.3_Missense_Mutation_p.V64D|IFI44L_ENST00000476521.1_3'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	NA						cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GTGGCTTATGTCTTAGACATC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	162	161			NA	NA	1		NA											NA				79102805		2203	4300	6503	SO:0001583	missense			AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959	10964	10964			17817	protein-coding gene	gene with protein product		613975	chromosome 1 open reading frame 29	C1orf29	NA		Standard	NM_006820	NM_006820	NA	Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.965T>A	1.37:g.79102805T>A	ENSP00000359787:p.Val322Asp	NA	Q86TE1|Q96B64|Q99984	37	CCDS687.2	.	.	.	.	.	.	.	.	.	.	T	19.34	3.808279	0.70797	.	.	ENSG00000137959	ENST00000370751;ENST00000342282	T;T	0.56444	2.27;0.46	4.08	4.08	0.47627	.	0.000000	0.64402	D	0.000007	T	0.66674	0.2813	M	0.85462	2.755	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	T	0.73244	-0.4044	10	0.87932	D	0	-11.108	11.2061	0.48771	0.0:0.0:0.0:1.0	.	322	Q53G44	IF44L_HUMAN	D	322;64	ENSP00000359787:V322D;ENSP00000342833:V64D	ENSP00000342833:V64D	V	+	2	0	IFI44L	78875393	0.998000	0.40836	0.417000	0.26559	0.861000	0.49209	3.583000	0.53928	1.790000	0.52503	0.377000	0.23210	GTC	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026834.3		+	ENST00000370751.5	Missense_Mutation	SNP	1 : 79102805 - 79102805 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	529	122
TPP2	7174	broad.mit.edu	37	13	103288009	103288009	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103288009C>A	ENST00000376052.3	+	12	1482	c.1466C>A	c.(1465-1467)gCt>gAt	p.A489D	TPP2_ENST00000376065.4_Missense_Mutation_p.A489D			P29144	TPP2_HUMAN	tripeptidyl peptidase II	489					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCAGTGAAGGCTGACAATATA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	117	117			NA	NA	13		NA											NA				103288009		2203	4300	6503	SO:0001583	missense			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	7174	7174	3.4.14.10		12016	protein-coding gene	gene with protein product		190470			NA	1670990	Standard		NM_003291	NA	Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376052.3:c.1466C>A	13.37:g.103288009C>A	ENSP00000365220:p.Ala489Asp	NA	Q5VZU8	37		.	.	.	.	.	.	.	.	.	.	C	16.93	3.258655	0.59321	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	D;D	0.88354	-2.37;-2.37	5.83	5.83	0.93111	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.158737	0.56097	D	0.000033	D	0.87111	0.6096	L	0.33710	1.025	0.50467	D	0.999874	P	0.49253	0.921	P	0.48952	0.596	D	0.86781	0.1979	10	0.45353	T	0.12	.	14.3065	0.66389	0.0:0.9295:0.0:0.0705	.	489	P29144	TPP2_HUMAN	D	489	ENSP00000365233:A489D;ENSP00000365220:A489D	ENSP00000365220:A489D	A	+	2	0	TPP2	102086010	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.766000	0.55280	2.763000	0.94921	0.563000	0.77884	GCT	TPP2-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000045684.2		+	ENST00000376052.3	Missense_Mutation	SNP	13 : 103288009 - 103288009 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	482	78
RGAG1	57529	broad.mit.edu	37	X	109695829	109695829	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:109695829G>T	ENST00000465301.2	+	3	2230	c.1984G>T	c.(1984-1986)Gcc>Tcc	p.A662S	RGAG1_ENST00000540313.1_Missense_Mutation_p.A662S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	662										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GACAGACACAGCCTCTGGAGG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	88	94			NA	NA	X		NA											NA				109695829		2203	4300	6503	SO:0001583	missense			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978	57529	57529			29245	protein-coding gene	gene with protein product					NA	10718198, 15716091, 16093683	Standard	NM_020769	NM_020769	NA	Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1984G>T	X.37:g.109695829G>T	ENSP00000419786:p.Ala662Ser	NA	Q9P2M8	37	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	5.249	0.231386	0.09969	.	.	ENSG00000243978	ENST00000465301;ENST00000540313	T;T	0.55052	0.54;0.54	4.21	2.44	0.29823	.	0.442010	0.16858	N	0.196635	T	0.42607	0.1210	L	0.46157	1.445	0.09310	N	1	B	0.22683	0.073	B	0.30855	0.121	T	0.31475	-0.9942	9	.	.	.	-1.1739	5.4762	0.16697	0.3577:0.0:0.6423:0.0	.	662	Q8NET4	RGAG1_HUMAN	S	662	ENSP00000419786:A662S;ENSP00000441452:A662S	.	A	+	1	0	RGAG1	109582485	0.946000	0.32159	0.009000	0.14445	0.335000	0.28730	1.758000	0.38410	0.544000	0.28883	0.529000	0.55759	GCC	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057906.2		+	ENST00000465301.2	Missense_Mutation	SNP	X : 109695829 - 109695829 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	248	76
ZBED1	9189	broad.mit.edu	37	X	2407814	2407814	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2407814C>T	ENST00000381223.4	-	2	1150	c.947G>A	c.(946-948)cGc>cAc	p.R316H	DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381218.3_Missense_Mutation_p.R316H|ZBED1_ENST00000381222.2_Missense_Mutation_p.R316H	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	316						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CACCAGTTTGCGGCAGCGCGA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG,HIS/ARG,HIS/ARG,	0,4406		0,0,2203	64	60	61		947,947,947,	3.1	0	X		61	1,8591		0,1,4295	no	missense,missense,missense,intron	ZBED1,DHRSX	NM_001171135.1,NM_001171136.1,NM_004729.3,NM_145177.2	29,29,29,	0,1,6498	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,	316/695,316/695,316/695,	2407814	1,12997	2203	4296	6499	SO:0001583	missense			AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717	9189	9189		Pseudoautosomal regions / PAR1, Zinc fingers, BED-type	447	protein-coding gene	gene with protein product		300178	Ac-like transposable element	ALTE	NA	9872452, 9887332, 23533661	Standard	NM_004729	NM_001171135	NA	Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.947G>A	X.37:g.2407814C>T	ENSP00000370621:p.Arg316His	NA	Q96BY4	37	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.991842	0.35131	0.0	1.16E-4	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218	T;T;T	0.28666	1.6;1.6;1.6	3.06	3.06	0.35304	Ribonuclease H-like (1);	0.447401	0.19468	N	0.113536	T	0.52709	0.1751	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.44847	-0.9301	9	0.52906	T	0.07	-15.8715	13.6519	0.62316	0.0:1.0:0.0:0.0	.	316	O96006	ZBED1_HUMAN	H	316	ENSP00000370621:R316H;ENSP00000370620:R316H;ENSP00000370616:R316H	ENSP00000370616:R316H	R	-	2	0	ZBED1	2417814	0.999000	0.42202	0.022000	0.16811	0.013000	0.08279	5.371000	0.66150	1.155000	0.42497	0.519000	0.50382	CGC	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000144310.3		-	ENST00000381223.4	Missense_Mutation	SNP	X : 2407814 - 2407814 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	251	78
GALNT8	26290	broad.mit.edu	37	12	4881757	4881757	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4881757C>T	ENST00000252318.2	+	11	2245	c.1908C>T	c.(1906-1908)agC>agT	p.S636S		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	636						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						AGACCAACAGCCAGTGATCCT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(108;631 1558 7270 20097 39846)							NA				0													80	73	76			NA	NA	12		NA											NA				4881757		2203	4300	6503	SO:0001819	synonymous_variant			AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	26290	26290	2.4.1.41	Glycosyltransferase family 2 domain containing	4130	protein-coding gene	gene with protein product	polypeptide GalNAc transferase 8	606250	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)		NA	10767557	Standard	NM_017417	NM_017417	NA	Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.1908C>T	12.37:g.4881757C>T		NA	B2RU02	37	CCDS8533.1																																																																																			GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388277.2		+	ENST00000252318.2	Silent	SNP	12 : 4881757 - 4881757 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	179	25
CRB1	23418	broad.mit.edu	37	1	197297570	197297570	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197297570A>C	ENST00000367399.2	+	2	89	c.89A>C	c.(88-90)aAc>aCc	p.N30T	CRB1_ENST00000367400.3_Missense_Mutation_p.N30T|CRB1_ENST00000535699.1_5'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.N30T	NM_001193640.1	NP_001180569.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	148	EGF-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGCAATAAAAACAACACCAGG	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	43	43			NA	NA	1		NA											NA				197297570		2198	4300	6498	SO:0001583	missense				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376	23418	23418			2343	protein-coding gene	gene with protein product		604210	crumbs (Drosophila) homolog 1, crumbs homolog 1 (Drosophila)	RP12	NA	10373321, 10508521	Standard	NM_201253	NM_201253	NA	Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367399.2:c.89A>C	1.37:g.197297570A>C	ENSP00000356369:p.Asn30Thr	NA	A2A308|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0	37	CCDS53454.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.259173	0.39995	.	.	ENSG00000134376	ENST00000538660;ENST00000367400;ENST00000367399	D;D;D	0.91996	-2.95;-1.72;-2.17	5.52	5.52	0.82312	Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.94961	0.8370	L	0.60957	1.885	0.80722	D	1	D;B;D;D	0.69078	0.997;0.066;0.997;0.996	D;B;D;P	0.77004	0.989;0.099;0.989;0.815	D	0.95103	0.8232	9	0.56958	D	0.05	.	15.9458	0.79792	1.0:0.0:0.0:0.0	.	30;30;30;55	B7Z5T2;P82279-3;P82279;Q59H36	.;.;CRUM1_HUMAN;.	T	30	ENSP00000438091:N30T;ENSP00000356370:N30T;ENSP00000356369:N30T	ENSP00000356369:N30T	N	+	2	0	CRB1	195564193	1.000000	0.71417	0.994000	0.49952	0.956000	0.61745	6.234000	0.72326	2.216000	0.71823	0.533000	0.62120	AAC	CRB1-005	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280653.1		+	ENST00000367399.2	Missense_Mutation	SNP	1 : 197297570 - 197297570 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	287	62
HSD17B13	345275	broad.mit.edu	37	4	88231425	88231425	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88231425G>A	ENST00000328546.4	-	6	846	c.782C>T	c.(781-783)tCg>tTg	p.S261L	HSD17B13_ENST00000302219.6_Missense_Mutation_p.S225L	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	261						extracellular region	binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		ATTGATATACGATGGAACAAA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	104	103			NA	NA	4		NA											NA				88231425		2202	4300	6502	SO:0001583	missense				CCDS3618.1, CCDS47097.1	4q22.1	2011-09-20			ENSG00000170509	ENSG00000170509	345275	345275	1.1.-.-	Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3	18685	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 16C, member 3	612127			NA	19027726	Standard	NM_178135	NM_178135	NA	Approved	SCDR9, SDR16C3	uc003hqo.2	Q7Z5P4	OTTHUMG00000130602	ENST00000328546.4:c.782C>T	4.37:g.88231425G>A	ENSP00000333300:p.Ser261Leu	NA	A8K9R9|Q2M1L5|Q86W22|Q86W23	37	CCDS3618.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.800683	0.31869	.	.	ENSG00000170509	ENST00000302219;ENST00000328546	D;D	0.88741	-2.42;-2.42	5.08	4.23	0.50019	.	0.250955	0.27600	N	0.018643	D	0.89287	0.6672	M	0.83223	2.63	0.35195	D	0.77378	B;B	0.24317	0.101;0.097	B;B	0.26094	0.045;0.066	D	0.88930	0.3372	10	0.28530	T	0.3	.	14.6226	0.68597	0.0:0.1467:0.8533:0.0	.	225;261	Q7Z5P4-2;Q7Z5P4	.;DHB13_HUMAN	L	225;261	ENSP00000305438:S225L;ENSP00000333300:S261L	ENSP00000305438:S225L	S	-	2	0	HSD17B13	88450449	0.996000	0.38824	0.717000	0.30585	0.447000	0.32167	2.874000	0.48483	1.126000	0.42016	0.650000	0.86243	TCG	HSD17B13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253052.1		-	ENST00000328546.4	Missense_Mutation	SNP	4 : 88231425 - 88231425 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	389	80
TTC24	164118	broad.mit.edu	37	1	156552183	156552183	+	Nonsense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156552183T>G	ENST00000368237.3	+	2	867	c.867T>G	c.(865-867)taT>taG	p.Y289*	TTC24_ENST00000368236.3_Nonsense_Mutation_p.Y289*			A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	289							binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCGGCAACTATCAGGAAGCTC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	42	42			NA	NA	1		NA											NA				156552183		1907	4128	6035	SO:0001587	stop_gained				CCDS53379.1	1q22	2013-01-10			ENSG00000187862	ENSG00000187862	164118	164118		Tetratricopeptide (TTC) repeat domain containing	32348	protein-coding gene	gene with protein product					NA		Standard	XM_089384	NM_001105669	NA	Approved		uc021pbf.1	A2A3L6	OTTHUMG00000033202	ENST00000368237.3:c.867T>G	1.37:g.156552183T>G	ENSP00000357220:p.Tyr289*	NA	Q5T3H7	37	CCDS53379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.0|23.0	4.357375|4.357375	0.82243|0.82243	.|.	.|.	ENSG00000187862|ENSG00000187862	ENST00000340086;ENST00000413282|ENST00000368236;ENST00000368237	.|.	.|.	.|.	4.38|4.38	-1.59|-1.59	0.08453|0.08453	.|.	.|0.322824	.|0.22670	.|N	.|0.057070	T|.	0.31136|.	0.0787|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.19778|.	-1.0295|.	3|.	.|.	.|.	.|.	-7.8739|-7.8739	9.9833|9.9833	0.41826|0.41826	0.0:0.5843:0.0:0.4157|0.0:0.5843:0.0:0.4157	.|.	.|.	.|.	.|.	S|X	62;54|289	.|.	.|.	I|Y	+|+	2|3	0|2	TTC24|TTC24	154818807|154818807	0.000000|0.000000	0.05858|0.05858	0.830000|0.830000	0.32933|0.32933	0.834000|0.834000	0.47266|0.47266	-0.407000|-0.407000	0.07178|0.07178	-0.152000|-0.152000	0.11156|0.11156	0.379000|0.379000	0.24179|0.24179	ATC|TAT	TTC24-006	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000158547.1		+	ENST00000368237.3	Nonsense_Mutation	SNP	1 : 156552183 - 156552183 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	185	40
RIC8A	60626	broad.mit.edu	37	11	209565	209565	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:209565C>T	ENST00000526104.1	+	3	1635	c.291C>T	c.(289-291)gaC>gaT	p.D97D	RIC8A_ENST00000325207.5_Silent_p.D97D|RIC8A_ENST00000527696.1_Silent_p.D91D			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	97						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCTATGCTGACATCTCTGTCT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	57	58			NA	NA	11		NA											NA				209565		2203	4300	6503	SO:0001819	synonymous_variant			AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963	60626	60626			29550	protein-coding gene	gene with protein product		609146	resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)		NA	10985349, 11230166	Standard	NM_021932	XM_005253052	NA	Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.291C>T	11.37:g.209565C>T		NA	Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	37																																																																																				RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000384761.1		+	ENST00000526104.1	Silent	SNP	11 : 209565 - 209565 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	309	66
KCNT1	57582	broad.mit.edu	37	9	138662175	138662175	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138662175C>T	ENST00000371757.2	+	17	1718	c.1651C>T	c.(1651-1653)Cgc>Tgc	p.R551C	KCNT1_ENST00000298480.5_Missense_Mutation_p.R551C|KCNT1_ENST00000490355.2_Missense_Mutation_p.R532C|KCNT1_ENST00000263604.3_Missense_Mutation_p.R532C|KCNT1_ENST00000491806.2_Missense_Mutation_p.R518C|KCNT1_ENST00000487664.1_Missense_Mutation_p.R506C|KCNT1_ENST00000488444.2_Missense_Mutation_p.R532C|KCNT1_ENST00000486577.2_Missense_Mutation_p.R512C	NM_020822.2	NP_065873.2	B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	551						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GCAGTGGCAGCGCATGTATGG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	47	50			NA	NA	9		NA											NA				138662175		2202	4300	6502	SO:0001583	missense			AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147	57582	57582		Potassium channels, Voltage-gated ion channels / Potassium channels, calcium-activated	18865	protein-coding gene	gene with protein product		608167			NA	10718198, 16382103	Standard	NM_020822	NM_020822	NA	Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000371757.2:c.1651C>T	9.37:g.138662175C>T	ENSP00000360822:p.Arg551Cys	NA		37	CCDS35175.2	.	.	.	.	.	.	.	.	.	.	C	18.25	3.583234	0.65992	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	4.24	3.25	0.37280	Potassium channel, calcium-activated, BK, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.52885	0.1762	M	0.62723	1.935	0.80722	D	1	D;P;D;D	0.76494	0.999;0.882;0.997;0.997	P;B;P;P	0.61658	0.892;0.418;0.827;0.892	T	0.56007	-0.8050	10	0.87932	D	0	-16.3187	7.8272	0.29322	0.2883:0.5633:0.1484:0.0	.	518;551;506;532	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	C	506;551;551;512;518;532;532;532	ENSP00000417851:R506C;ENSP00000298480:R551C;ENSP00000360822:R551C;ENSP00000263604:R532C	ENSP00000263604:R532C	R	+	1	0	KCNT1	137801996	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.689000	0.37700	1.923000	0.55706	0.585000	0.79938	CGC	KCNT1-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055021.2		+	ENST00000371757.2	Missense_Mutation	SNP	9 : 138662175 - 138662175 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	374	67
FAM154B	283726	broad.mit.edu	37	15	82555261	82555261	+	Translation_Start_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:82555261T>G	ENST00000565432.1	+	0	77				FAM154B_ENST00000427381.2_De_novo_Start_OutOfFrame|FAM154B_ENST00000339465.5_Missense_Mutation_p.I14S|FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000566205.1_Missense_Mutation_p.I14S|FAM154B_ENST00000566861.1_Missense_Mutation_p.I14S			Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	NA										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						CTGTGTCAGATTTGTAGCTGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	103	106			NA	NA	15		NA											NA				82555261		2201	4300	6501					AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659	283726	283726			33727	protein-coding gene	gene with protein product					NA		Standard	NM_001008226	XM_005254317	NA	Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000565432.1:c.-151T>G	15.37:g.82555261T>G		NA		37		.	.	.	.	.	.	.	.	.	.	T	9.312	1.055836	0.19907	.	.	ENSG00000188659	ENST00000339465	T	0.17528	2.27	3.22	3.22	0.36961	.	0.162599	0.37095	U	0.002253	T	0.20170	0.0485	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.14337	-1.0476	10	0.59425	D	0.04	-10.1081	11.6085	0.51045	0.0:0.0:0.0:1.0	.	14	Q658L1	F154B_HUMAN	S	14	ENSP00000340445:I14S	ENSP00000340445:I14S	I	+	2	0	FAM154B	80342316	1.000000	0.71417	0.990000	0.47175	0.342000	0.28953	4.568000	0.60857	1.480000	0.48289	0.172000	0.16884	ATT	FAM154B-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000419648.1		+	ENST00000565432.1	De_novo_Start_OutOfFrame	SNP	15 : 82555261 - 82555261 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	85	14
SYNRG	11276	broad.mit.edu	37	17	35896132	35896132	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35896132G>A	ENST00000394378.2	-	18	3406	c.3381C>T	c.(3379-3381)atC>atT	p.I1127I	SYNRG_ENST00000346661.4_Silent_p.I1205I|SYNRG_ENST00000585472.1_Silent_p.I1126I|SYNRG_ENST00000591288.1_Silent_p.I999I|SYNRG_ENST00000345615.4_Silent_p.I1127I|SYNRG_ENST00000502449.2_Silent_p.I1082I|SYNRG_ENST00000339208.6_Silent_p.I1205I	NM_198882.1	NP_942583.1	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1205					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATACTTTATCGATGTCCTTCA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													198	162	174			NA	NA	17		NA											NA				35896132		2203	4300	6503	SO:0001819	synonymous_variant			AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066	11276	11276			557	protein-coding gene	gene with protein product	gamma-synergin, adaptor-related protein complex 1 gamma subunit-binding protein 1	607291	AP1 gamma subunit binding protein 1	AP1GBP1	NA	10477754	Standard	NM_007247	XM_005256980	NA	Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000394378.2:c.3381C>T	17.37:g.35896132G>A		NA	B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	37	CCDS54114.1																																																																																			SYNRG-008	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359433.1		-	ENST00000394378.2	Silent	SNP	17 : 35896132 - 35896132 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	247	48
CACTIN	58509	broad.mit.edu	37	19	3624041	3624041	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3624041C>T	ENST00000429344.2	-	2	339	c.287G>A	c.(286-288)cGg>cAg	p.R96Q	CACTIN_ENST00000248420.5_Missense_Mutation_p.R96Q|CACTIN_ENST00000221899.3_Missense_Mutation_p.R28Q	NM_001080543.1	NP_001074012.1			cactin, spliceosome C complex subunit	NA											NA						CCACTGGCCCCGTGACTGCTC	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	34	32			NA	NA	19		NA											NA				3624041		1994	4117	6111	SO:0001583	missense			BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298	58509	58509			29938	protein-coding gene	gene with protein product	NY REN 24 antigen, functional spliceosome-associated protein c, cactin homolog (Drosophila)		chromosome 19 open reading frame 29	C19orf29	NA	8619474, 9110174, 21429463, 20829348	Standard		NM_001080543	NA	Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.287G>A	19.37:g.3624041C>T	ENSP00000415078:p.Arg96Gln	NA		37	CCDS45920.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741046	0.49151	.	.	ENSG00000105298	ENST00000429344;ENST00000248420;ENST00000221899	.	.	.	4.81	-1.25	0.09405	.	4.021300	0.02021	N	0.047798	T	0.19005	0.0456	N	0.03115	-0.41	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.24404	-1.0161	9	0.45353	T	0.12	.	8.1263	0.31001	0.0:0.5735:0.0:0.4265	.	96	Q8WUQ7	CS029_HUMAN	Q	96;96;28	.	ENSP00000221899:R28Q	R	-	2	0	C19orf29	3575041	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.589000	0.05767	-0.404000	0.07610	0.561000	0.74099	CGG	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457370.2		-	ENST00000429344.2	Missense_Mutation	SNP	19 : 3624041 - 3624041 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	429	94
CITED2	10370	broad.mit.edu	37	6	139695019	139695019	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139695019G>A	ENST00000367651.2	-	2	278	c.63C>T	c.(61-63)caC>caT	p.H21H	CITED2_ENST00000536159.1_Silent_p.H21H|CITED2_ENST00000537332.1_Silent_p.H21H	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	21	His-rich.				adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		CAGGGTGATGGTGCAGCCCAT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(98;1219 1550 33720 43229 49330)							NA				0													43	40	41			NA	NA	6		NA											NA				139695019		2203	4300	6503	SO:0001819	synonymous_variant			U65093	CCDS5195.1, CCDS75530.1	6q23.3	2008-08-29			ENSG00000164442	ENSG00000164442	10370	10370			1987	protein-coding gene	gene with protein product		602937			NA	8901575, 10552932	Standard		NM_006079	NA	Approved	MRG1	uc021zfz.2	Q99967	OTTHUMG00000015691	ENST00000367651.2:c.63C>T	6.37:g.139695019G>A		NA	O95426|Q5VTF4	37	CCDS5195.1																																																																																			CITED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042463.1		-	ENST00000367651.2	Silent	SNP	6 : 139695019 - 139695019 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	219	40
ALDH4A1	8659	broad.mit.edu	37	1	19209781	19209781	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19209781C>T	ENST00000375341.3	-	6	852	c.595G>A	c.(595-597)Ggt>Agt	p.G199S	ALDH4A1_ENST00000290597.5_Missense_Mutation_p.G199S|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.G139S|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.G199S|ALDH4A1_ENST00000454547.1_5'UTR	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	199					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	ACCTCCAGACCCCGGTACACC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	40	41			NA	NA	1		NA											NA				19209781		2203	4300	6503	SO:0001583	missense			U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	8659	8659	1.5.1.12	Aldehyde dehydrogenases	406	protein-coding gene	gene with protein product		606811		ALDH4	NA	8621661	Standard		NM_003748	NA	Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.595G>A	1.37:g.19209781C>T	ENSP00000364490:p.Gly199Ser	NA	A8K1Q7|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	37	CCDS188.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331689	0.81690	.	.	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538839;ENST00000538309;ENST00000375335;ENST00000454547;ENST00000375334;ENST00000432718	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.4	5.4	0.78164	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.55940	0.1952	M	0.76838	2.35	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.51537	-0.8693	10	0.25106	T	0.35	-37.3033	17.7436	0.88413	0.0:1.0:0.0:0.0	.	199	P30038	AL4A1_HUMAN	S	199;199;199;139;183;97;139;183	ENSP00000290597:G199S;ENSP00000364490:G199S;ENSP00000446071:G199S;ENSP00000442988:G139S;ENSP00000393209:G183S	ENSP00000290597:G199S	G	-	1	0	ALDH4A1	19082368	1.000000	0.71417	1.000000	0.80357	0.429000	0.31625	7.184000	0.77705	2.537000	0.85549	0.561000	0.74099	GGT	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006954.1		-	ENST00000375341.3	Missense_Mutation	SNP	1 : 19209781 - 19209781 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	303	64
TECTA	7007	broad.mit.edu	37	11	121028656	121028656	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121028656C>T	ENST00000392793.1	+	14	4683	c.4412C>T	c.(4411-4413)gCg>gTg	p.A1471V	TECTA_ENST00000264037.2_Missense_Mutation_p.A1471V			O75443	TECTA_HUMAN	tectorin alpha	1471					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAGGAGTGTGCGCTGCGCAAC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	40	41			NA	NA	11		NA											NA				121028656		2203	4298	6501	SO:0001583	missense			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927	7007	7007			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21	NA	9503015, 9590290	Standard	NM_005422	NM_005422	NA	Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4412C>T	11.37:g.121028656C>T	ENSP00000376543:p.Ala1471Val	NA		37	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949295	0.53186	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.04862	3.54;3.54	5.55	4.58	0.56647	VWC out (1);	0.132425	0.50627	D	0.000116	T	0.03871	0.0109	N	0.11255	0.115	0.35126	D	0.767478	B	0.29862	0.259	B	0.19946	0.027	T	0.49214	-0.8963	10	0.23302	T	0.38	.	15.7864	0.78306	0.0:0.7558:0.2441:0.0	.	1471	O75443	TECTA_HUMAN	V	1471	ENSP00000376543:A1471V;ENSP00000264037:A1471V	ENSP00000264037:A1471V	A	+	2	0	TECTA	120533866	0.813000	0.29090	0.999000	0.59377	0.959000	0.62525	1.558000	0.36309	2.600000	0.87896	0.462000	0.41574	GCG	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313850.1		+	ENST00000392793.1	Missense_Mutation	SNP	11 : 121028656 - 121028656 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	71
TOX4	9878	broad.mit.edu	37	14	21961134	21961134	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21961134G>T	ENST00000405508.1	+	8	1635	c.1359G>T	c.(1357-1359)caG>caT	p.Q453H	TOX4_ENST00000448790.2_Missense_Mutation_p.Q430H|TOX4_ENST00000262709.3_Missense_Mutation_p.Q453H			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	453	Gln/Pro-rich.					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		AGATGCCACAGCCCCCGACTC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	88	90			NA	NA	14		NA											NA				21961134		2203	4300	6503	SO:0001583	missense			AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203	9878	9878			20161	protein-coding gene	gene with protein product		614032	chromosome 14 open reading frame 92, KIAA0737	C14orf92, KIAA0737	NA		Standard	NM_014828	NM_014828	NA	Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1359G>T	14.37:g.21961134G>T	ENSP00000385102:p.Gln453His	NA		37	CCDS32043.1	.	.	.	.	.	.	.	.	.	.	G	9.367	1.069594	0.20147	.	.	ENSG00000092203	ENST00000405508;ENST00000262709;ENST00000448790;ENST00000545559	T;T;T	0.15139	2.45;2.45;2.47	4.96	1.09	0.20402	.	0.672239	0.14521	N	0.314432	T	0.11495	0.0280	N	0.08118	0	0.37097	D	0.899727	D;D	0.56521	0.976;0.976	P;P	0.47528	0.549;0.549	T	0.22871	-1.0204	10	0.38643	T	0.18	.	12.175	0.54180	0.2895:0.0:0.7105:0.0	.	430;453	B4DPY8;O94842	.;TOX4_HUMAN	H	453;453;430;381	ENSP00000385102:Q453H;ENSP00000262709:Q453H;ENSP00000393080:Q430H	ENSP00000262709:Q453H	Q	+	3	2	TOX4	21030974	0.998000	0.40836	0.999000	0.59377	0.154000	0.21943	0.605000	0.24179	0.106000	0.17784	-1.644000	0.00765	CAG	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317287.2		+	ENST00000405508.1	Missense_Mutation	SNP	14 : 21961134 - 21961134 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1048	197
BRD3	8019	broad.mit.edu	37	9	136907020	136907020	+	Silent	SNP	C	C	T	rs141189239		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136907020C>T	ENST00000303407.7	-	8	1454	c.1269G>A	c.(1267-1269)ccG>ccA	p.P423P	BRD3_ENST00000371834.2_Silent_p.P423P|BRD3_ENST00000357885.2_Silent_p.P423P	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	423						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CAGGCAGCGCCGGTGCCTCCA	0.657		NA	T	C15orf55	lethal midline carcinoma of young people									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		9	9q34	8019	bromodomain containing 3		E	0								C		0,4406		0,0,2203	25	28	27		1269	-3.8	0	9	dbSNP_134	27	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BRD3	NM_007371.3		0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077		423/727	136907020	1,13005	2203	4300	6503	SO:0001819	synonymous_variant				CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925	8019	8019			1104	protein-coding gene	gene with protein product	RING3-like	601541	bromodomain-containing 3		NA	7584044, 8781126	Standard	NM_007371	NM_007371	NA	Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.1269G>A	9.37:g.136907020C>T		NA	B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	37	CCDS6980.1																																																																																			BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055390.4		-	ENST00000303407.7	Silent	SNP	9 : 136907020 - 136907020 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	152	26
AP3D1	8943	broad.mit.edu	37	19	2121030	2121030	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2121030C>T	ENST00000355272.6	-	14	1518	c.1312G>A	c.(1312-1314)Gcc>Acc	p.A438T	AP3D1_ENST00000350812.6_Missense_Mutation_p.A269T|AP3D1_ENST00000356926.4_Missense_Mutation_p.A347T|AP3D1_ENST00000345016.5_Missense_Mutation_p.A438T	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	438					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATTTGGGCGGCGATGAGGTGG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	69	66			NA	NA	19		NA											NA				2121030		2174	4272	6446	SO:0001583	missense			U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000	8943	8943			568	protein-coding gene	gene with protein product		607246			NA	9151686, 9303295	Standard		NM_003938	NA	Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000355272.6:c.1312G>A	19.37:g.2121030C>T	ENSP00000347416:p.Ala438Thr	NA	O00202|O75262|Q59HF5|Q96G11|Q9H3C6	37	CCDS58638.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.992887	0.93167	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	4.67	4.67	0.58626	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57666	0.2069	M	0.88640	2.97	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.74023	0.866;0.97;0.982	T	0.68029	-0.5517	10	0.72032	D	0.01	-8.4116	16.537	0.84375	0.0:1.0:0.0:0.0	.	438;438;347	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	T	347;438;438;438;269	ENSP00000349398:A347T;ENSP00000344055:A438T;ENSP00000347416:A438T;ENSP00000342321:A269T	ENSP00000341579:A438T	A	-	1	0	AP3D1	2072030	1.000000	0.71417	0.658000	0.29665	0.674000	0.39518	7.641000	0.83368	2.161000	0.67846	0.462000	0.41574	GCC	AP3D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450910.2		-	ENST00000355272.6	Missense_Mutation	SNP	19 : 2121030 - 2121030 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	350	57
SPTBN2	6712	broad.mit.edu	37	11	66468126	66468126	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66468126C>A	ENST00000533211.1	-	17	3775	c.3444G>T	c.(3442-3444)gaG>gaT	p.E1148D	SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1148D|SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1148D			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1148					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TTCCCAGGGCCTCCAGTCGCT	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	25	24			NA	NA	11		NA											NA				66468126		2195	4292	6487	SO:0001583	missense			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898	6712	6712		Pleckstrin homology (PH) domain containing	11276	protein-coding gene	gene with protein product		604985	spinocerebellar ataxia 5	SCA5	NA	9826670, 16429157	Standard	NM_006946	NM_006946	NA	Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.3444G>T	11.37:g.66468126C>A	ENSP00000432568:p.Glu1148Asp	NA	O14872|O14873	37	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827036	0.50739	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.52754	0.65;0.65;0.65	4.56	0.915	0.19366	.	0.060221	0.64402	D	0.000002	T	0.19446	0.0467	N	0.04724	-0.175	0.37733	D	0.925334	B	0.24186	0.099	B	0.21360	0.034	T	0.08994	-1.0695	10	0.11794	T	0.64	.	6.7507	0.23485	0.0:0.5533:0.0:0.4467	.	1148	O15020	SPTN2_HUMAN	D	1148	ENSP00000432568:E1148D;ENSP00000311489:E1148D;ENSP00000433593:E1148D	ENSP00000311489:E1148D	E	-	3	2	SPTBN2	66224702	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.956000	0.29202	0.285000	0.22329	-0.339000	0.08088	GAG	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393892.2		-	ENST00000533211.1	Missense_Mutation	SNP	11 : 66468126 - 66468126 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	264	46
AZU1	566	broad.mit.edu	37	19	828350	828350	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:828350G>A	ENST00000233997.2	+	2	200	c.179G>A	c.(178-180)cGc>cAc	p.R60H		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	60	Hydrophobic.|Peptidase S1.|Possesses antibiotic activity.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		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)		ATCCATGCCCGCTTCGTGATG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	47	45			NA	NA	19		NA											NA				828350		2203	4296	6499	SO:0001583	missense			X58794	CCDS12044.1	19p13.3	2012-03-30	2008-08-01		ENSG00000172232	ENSG00000172232	566	566			913	protein-coding gene	gene with protein product	cationic antimicrobial protein 37, heparin-binding protein, neutrophil azurocidin	162815			NA	1919011	Standard	NM_001700	NM_001700	NA	Approved	AZU, CAP37, AZAMP, HBP, NAZC, HUMAZUR	uc002lpz.1	P20160		ENST00000233997.2:c.179G>A	19.37:g.828350G>A	ENSP00000233997:p.Arg60His	NA	P80014|Q52LG4|Q9UCM1|Q9UCT5	37	CCDS12044.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.134797	0.37728	.	.	ENSG00000172232	ENST00000334630;ENST00000233997	D	0.89050	-2.46	2.4	-1.21	0.09524	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.89417	0.6709	M	0.82923	2.615	0.09310	N	1	D	0.56521	0.976	P	0.51229	0.663	T	0.80141	-0.1506	9	0.66056	D	0.02	.	2.6299	0.04941	0.3483:0.2644:0.3873:0.0	.	60	P20160	CAP7_HUMAN	H	74;60	ENSP00000233997:R60H	ENSP00000233997:R60H	R	+	2	0	AZU1	779350	0.000000	0.05858	0.001000	0.08648	0.054000	0.15201	-0.409000	0.07160	-0.061000	0.13110	0.511000	0.50034	CGC	AZU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457472.2		+	ENST00000233997.2	Missense_Mutation	SNP	19 : 828350 - 828350 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	739	176
SCRN1	9805	broad.mit.edu	37	7	29963631	29963631	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:29963631G>A	ENST00000426154.1	-	8	1363	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V	SCRN1_ENST00000434476.2_Missense_Mutation_p.A416V|SCRN1_ENST00000416113.2_Missense_Mutation_p.A222V|SCRN1_ENST00000242059.5_Missense_Mutation_p.A396V|SCRN1_ENST00000409497.1_Missense_Mutation_p.A396V|SCRN1_ENST00000425819.2_Missense_Mutation_p.A328V	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	396					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						CCCCACTTCCGCAGGGTCCAG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	106	105			NA	NA	7		NA											NA				29963631		2203	4300	6503	SO:0001583	missense			D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193	9805	9805			22192	protein-coding gene	gene with protein product		614965			NA	12221138	Standard	NM_014766	NM_014766	NA	Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.1187C>T	7.37:g.29963631G>A	ENSP00000409068:p.Ala396Val	NA	A8K0E9|Q25QX7|Q8IWD1	37	CCDS5422.1	.	.	.	.	.	.	.	.	.	.	G	6.220	0.408774	0.11812	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000425819;ENST00000544388;ENST00000409497;ENST00000416113;ENST00000434476	T;T;T;T;T;T	0.12255	3.22;3.22;3.07;3.22;2.7;3.21	4.73	3.85	0.44370	.	0.335476	0.28011	N	0.016950	T	0.10423	0.0255	L	0.42245	1.32	0.09310	N	1	B;B;P;B	0.36837	0.106;0.049;0.571;0.007	B;B;B;B	0.27262	0.007;0.007;0.078;0.004	T	0.17198	-1.0377	10	0.30078	T	0.28	-0.9737	11.8492	0.52401	0.0863:0.0:0.9137:0.0	.	416;416;328;396	C9JPG0;B4DHM0;B4DIP5;Q12765	.;.;.;SCRN1_HUMAN	V	396;396;328;200;396;222;416	ENSP00000242059:A396V;ENSP00000409068:A396V;ENSP00000414245:A328V;ENSP00000386872:A396V;ENSP00000407460:A222V;ENSP00000388942:A416V	ENSP00000242059:A396V	A	-	2	0	SCRN1	29930156	0.123000	0.22298	0.015000	0.15790	0.099000	0.18886	2.986000	0.49370	1.108000	0.41662	0.655000	0.94253	GCG	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214231.2		-	ENST00000426154.1	Missense_Mutation	SNP	7 : 29963631 - 29963631 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	697	136
BMP1	649	broad.mit.edu	37	8	22067082	22067082	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22067082C>T	ENST00000306385.5	+	19	3370	c.2700C>T	c.(2698-2700)taC>taT	p.Y900Y	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	900	CUB 5.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		AGGAAGGCTACGGCGTGGAGC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													300	223	249			NA	NA	8		NA											NA				22067082		2203	4300	6503	SO:0001819	synonymous_variant				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	649	649	3.4.24.19	Bone morphogenetic proteins	1067	protein-coding gene	gene with protein product	procollagen C-endopeptidase	112264	procollagen C-endopeptidase	PCOLC	NA	2004778	Standard	NM_006132	NM_006129	NA	Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2700C>T	8.37:g.22067082C>T		NA	A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	37	CCDS6026.1																																																																																			BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214995.2		+	ENST00000306385.5	Silent	SNP	8 : 22067082 - 22067082 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1136	196
RDH10	157506	broad.mit.edu	37	8	74234997	74234997	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:74234997C>T	ENST00000240285.5	+	5	1532	c.854C>T	c.(853-855)cCc>cTc	p.P285L	RP11-434I12.2_ENST00000517475.1_RNA|RDH10_ENST00000519380.1_Missense_Mutation_p.P120L|RP11-434I12.2_ENST00000514599.1_RNA	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	285					retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			ACTGACCAGCCCATGATCTGC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	98	102			NA	NA	8		NA											NA				74234997		2203	4300	6503	SO:0001583	missense			AF456765	CCDS6213.1	8q21.11	2011-09-20			ENSG00000121039	ENSG00000121039	157506	157506	1.1.1.-	Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3	19975	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 16C, member 4	607599			NA	12407145, 19027726	Standard		NM_172037	NA	Approved	SDR16C4	uc003xzi.3	Q8IZV5	OTTHUMG00000164492	ENST00000240285.5:c.854C>T	8.37:g.74234997C>T	ENSP00000240285:p.Pro285Leu	NA		37	CCDS6213.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790810	0.50102	.	.	ENSG00000121039	ENST00000240285;ENST00000519380	D;T	0.88354	-2.37;0.77	5.55	4.68	0.58851	NAD(P)-binding domain (1);	0.051646	0.85682	D	0.000000	D	0.89022	0.6597	L	0.45285	1.41	0.80722	D	1	D	0.64830	0.994	P	0.53912	0.737	D	0.87264	0.2281	10	0.28530	T	0.3	.	14.653	0.68811	0.0:0.9306:0.0:0.0694	.	285	Q8IZV5	RDH10_HUMAN	L	285;120	ENSP00000240285:P285L;ENSP00000428132:P120L	ENSP00000240285:P285L	P	+	2	0	RDH10	74397551	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	2.411000	0.44600	1.589000	0.49982	0.591000	0.81541	CCC	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378982.1		+	ENST00000240285.5	Missense_Mutation	SNP	8 : 74234997 - 74234997 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	440	69
CBS	875	broad.mit.edu	37	21	44486459	44486459	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44486459G>A	ENST00000398165.3	-	5	604	c.345C>T	c.(343-345)ggC>ggT	p.G115G	CBS_ENST00000359624.3_Silent_p.G115G|CBS_ENST00000398158.1_Silent_p.G115G|CBS_ENST00000352178.5_Silent_p.G115G|CBS_ENST00000398168.1_Silent_p.G115G|CBS_ENST00000544202.1_Silent_p.G27G|CBS_ENST00000470912.1_5'UTR	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	115					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	TCACGCTCCCGCCCGCGTTGA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,,	1,4405	2.1+/-5.4	0,1,2202	69	63	65		345,345,345	-3.3	1	21		65	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CBS	NM_000071.2,NM_001178008.1,NM_001178009.1	,,	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	,,	115/552,115/552,115/552	44486459	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			L14577	CCDS13693.1	21q22.3	2014-09-17			ENSG00000160200	ENSG00000160200	875	875	4.2.1.22		1550	protein-coding gene	gene with protein product		613381			NA	9790750	Standard	NM_000071	NM_000071	NA	Approved	HIP4	uc002zcv.2	P35520	OTTHUMG00000086834	ENST00000398165.3:c.345C>T	21.37:g.44486459G>A		NA	B2R993|D3DSK4|Q99425|Q9BWC5	37	CCDS13693.1																																																																																			CBS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195525.1		-	ENST00000398165.3	Silent	SNP	21 : 44486459 - 44486459 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	541	60
PEG3	5178	broad.mit.edu	37	19	57333086	57333086	+	Missense_Mutation	SNP	G	G	A	rs139872811		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57333086G>A	ENST00000326441.9	-	7	965	c.602C>T	c.(601-603)gCg>gTg	p.A201V	ZIM2_ENST00000391708.3_Missense_Mutation_p.A76V|ZIM2_ENST00000221722.5_Missense_Mutation_p.A76V|PEG3_ENST00000423103.2_Missense_Mutation_p.A201V|ZIM2_ENST00000593711.1_Missense_Mutation_p.A76V|PEG3_ENST00000598410.1_Missense_Mutation_p.A76V|ZIM2_ENST00000599935.1_Missense_Mutation_p.A76V|PEG3_ENST00000593695.1_Missense_Mutation_p.A75V|ZIM2_ENST00000601070.1_Missense_Mutation_p.A76V	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	201					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A201V(2)|p.A76V(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCTTGTTTTCGCCACCACAGG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				3	Substitution - Missense(3)	large_intestine(3)						G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	176	157	164		602,224,602,227,227,227,602,227	2	0	19	dbSNP_134	164	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense,missense,missense,missense	PEG3,ZIM2	NM_001146184.1,NM_001146185.1,NM_001146186.1,NM_001146187.1,NM_001146326.1,NM_001146327.1,NM_006210.2,NM_015363.4	64,64,64,64,64,64,64,64	0,3,6500	AA,AG,GG	NA	0.0233,0.0227,0.0231	benign,benign,benign,benign,benign,benign,benign,benign	201/1589,75/1463,201/1589,76/1465,76/528,76/528,201/1589,76/528	57333086	3,13003	2203	4300	6503	SO:0001583	missense			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300	5178	5178		Zinc fingers, C2H2-type, -, -, -	8826	protein-coding gene	gene with protein product		601483			NA	9149948	Standard		NM_006210	NA	Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.602C>T	19.37:g.57333086G>A	ENSP00000326581:p.Ala201Val	NA	P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705777	0.68615	2.27E-4	2.33E-4	ENSG00000198300	ENST00000391708;ENST00000221722;ENST00000326441;ENST00000423103;ENST00000292074	T;T;T;T	0.04758	3.56;3.56;4.18;4.18	3.03	1.98	0.26296	.	1.309430	0.05466	N	0.552168	T	0.02380	0.0073	N	0.08118	0	.	.	.	P;P;P;P	0.47253	0.804;0.628;0.628;0.892	B;B;B;B	0.30316	0.078;0.039;0.058;0.114	T	0.40627	-0.9553	9	0.72032	D	0.01	-3.6717	6.4397	0.21843	0.0:0.0:0.5316:0.4684	.	76;201;135;76	A7E2B8;Q9GZU2;Q96Q96;Q9NZV7	.;PEG3_HUMAN;.;ZIM2_HUMAN	V	76;76;201;201;201	ENSP00000375589:A76V;ENSP00000221722:A76V;ENSP00000326581:A201V;ENSP00000403051:A201V	ENSP00000221722:A76V	A	-	2	0	ZIM2	62024898	0.051000	0.20477	0.002000	0.10522	0.476000	0.33039	0.604000	0.24164	0.724000	0.32296	0.563000	0.77884	GCG	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416099.2		-	ENST00000326441.9	Missense_Mutation	SNP	19 : 57333086 - 57333086 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	938	180
SIGLEC1	6614	broad.mit.edu	37	20	3669866	3669866	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3669866C>T	ENST00000344754.4	-	20	5005	c.5006G>A	c.(5005-5007)cGt>cAt	p.R1669H	SIGLEC1_ENST00000202578.4_Intron	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1669					cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.1670_1673del(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CTTACAAACACGCCTCCTTCT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Deletion - In frame(1)	breast(1)											198	173	181			NA	NA	20		NA											NA				3669866		2203	4300	6503	SO:0001583	missense			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827	6614	6614		CD molecules, Sialic acid binding Ig-like lectins, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	11127	protein-coding gene	gene with protein product		600751	sialoadhesin	SN	NA	8530048	Standard	NM_023068	XM_006723610	NA	Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.5006G>A	20.37:g.3669866C>T	ENSP00000341141:p.Arg1669His	NA	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	37	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	C	9.884	1.202355	0.22121	.	.	ENSG00000088827	ENST00000344754	T	0.24151	1.87	5.38	-3.64	0.04515	.	2.282560	0.02156	N	0.058429	T	0.10035	0.0246	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.10730	-1.0617	10	0.33141	T	0.24	.	0.5307	0.00628	0.2761:0.3107:0.195:0.2182	.	1669	Q9BZZ2	SN_HUMAN	H	1669	ENSP00000341141:R1669H	ENSP00000341141:R1669H	R	-	2	0	SIGLEC1	3617866	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.189000	0.03061	-0.904000	0.03876	0.655000	0.94253	CGT	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077761.2		-	ENST00000344754.4	Missense_Mutation	SNP	20 : 3669866 - 3669866 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	782	141
ELMO1	9844	broad.mit.edu	37	7	37264604	37264604	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:37264604T>A	ENST00000310758.4	-	9	1228	c.581A>T	c.(580-582)gAc>gTc	p.D194V	ELMO1_ENST00000442504.1_Missense_Mutation_p.D194V|ELMO1_ENST00000448602.1_Missense_Mutation_p.D194V	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	194					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GATCGAGATGTCTATGGCTGA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	90	95			NA	NA	7		NA											NA				37264604		2203	4300	6503	SO:0001583	missense			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849	9844	9844		Engulfment and cell motility proteins	16286	protein-coding gene	gene with protein product		606420	engulfment and cell motility 1 (ced-12 homolog, C. elegans)		NA	11595183	Standard	NM_130442	NM_001039459	NA	Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.581A>T	7.37:g.37264604T>A	ENSP00000312185:p.Asp194Val	NA	A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	37	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.627058	0.87560	.	.	ENSG00000155849	ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602	T;T;T	0.56275	0.47;0.47;0.47	5.4	5.4	0.78164	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72898	0.3518	M	0.78637	2.42	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	T	0.76926	-0.2778	10	0.72032	D	0.01	.	15.7355	0.77839	0.0:0.0:0.0:1.0	.	194	Q92556	ELMO1_HUMAN	V	194;98;194;194	ENSP00000312185:D194V;ENSP00000406952:D194V;ENSP00000394458:D194V	ENSP00000312185:D194V	D	-	2	0	ELMO1	37231129	1.000000	0.71417	0.992000	0.48379	0.964000	0.63967	8.036000	0.88901	2.175000	0.68902	0.533000	0.62120	GAC	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219830.4		-	ENST00000310758.4	Missense_Mutation	SNP	7 : 37264604 - 37264604 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	238	35
EXOC3L1	283849	broad.mit.edu	37	16	67221403	67221403	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67221403G>T	ENST00000314586.6	-	5	1005	c.765C>A	c.(763-765)ggC>ggA	p.G255G	EXOC3L1_ENST00000562887.1_Intron	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	255	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						CCTGCTCCAGGCCCTCCTGTA	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	24	22			NA	NA	16		NA											NA				67221403		2193	4287	6480	SO:0001819	synonymous_variant			AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044	283849	283849			27540	protein-coding gene	gene with protein product		614117	exocyst complex component 3-like	EXOC3L	NA	12477932	Standard	NM_178516	NM_178516	NA	Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.765C>A	16.37:g.67221403G>T		NA	A8K7I9|Q8NAD2|Q8TEN2	37	CCDS10832.1																																																																																			EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268827.2		-	ENST00000314586.6	Silent	SNP	16 : 67221403 - 67221403 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	257	26
CACNA1C	775	broad.mit.edu	37	12	2721099	2721099	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2721099G>A	ENST00000399655.1	+	29	4013	c.3748G>A	c.(3748-3750)Gcc>Acc	p.A1250T	CACNA1C_ENST00000399629.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A1275T|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A1250T|CACNA1C_ENST00000480911.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A1270T|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000347598.4_Missense_Mutation_p.A1270T|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A1250T	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1270					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GTTCAAAATCGCCATGAACAT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,4371	2.1+/-5.4	0,1,2185	103	100	101		3748,3808,3748,3748,3748,3808,3748,3748,3748,3748,3748,3748,3748,3748,3748,3748,3748,3739,3748,3748,3748,3748,3808	4.3	1	12		101	0,8592		0,0,4296	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	CACNA1C	NM_000719.6,NM_001129827.1,NM_001129829.1,NM_001129830.1,NM_001129831.1,NM_001129832.1,NM_001129833.1,NM_001129834.1,NM_001129835.1,NM_001129836.1,NM_001129837.1,NM_001129838.1,NM_001129839.1,NM_001129840.1,NM_001129841.1,NM_001129842.1,NM_001129843.1,NM_001129844.1,NM_001129846.1,NM_001167623.1,NM_001167624.1,NM_001167625.1,NM_199460.2	58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58	0,1,6481	AA,AG,GG	NA	0.0,0.0229,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	1250/2139,1270/2187,1250/2180,1250/2174,1250/2167,1270/2159,1250/2158,1250/2158,1250/2158,1250/2156,1250/2147,1250/2147,1250/2145,1250/2139,1250/2139,1250/2139,1250/2139,1247/2136,1250/2128,1250/2139,1250/2174,1250/2199,1270/2222	2721099	1,12963	2186	4296	6482	SO:0001583	missense			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067	775	775		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1	NA	1650913, 16382099	Standard	NM_000719	NM_001129832	NA	Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000399655.1:c.3748G>A	12.37:g.2721099G>A	ENSP00000382563:p.Ala1250Thr	NA	B2RUT3|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	37	CCDS44794.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753981	0.89843	2.29E-4	0.0	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41	5.2	4.29	0.51040	.	0.171847	0.51477	D	0.000090	D	0.96781	0.8949	L	0.28556	0.865	0.80722	D	1	D;D;P;D;D;D;D;D;P;D;D;P;D;D;D;D;P;D;P;D;D;D;D;D;D	0.89917	1.0;1.0;0.922;1.0;0.999;1.0;1.0;0.996;0.88;0.999;1.0;0.607;0.999;1.0;0.999;1.0;0.901;1.0;0.585;1.0;1.0;1.0;1.0;0.998;1.0	D;D;B;D;D;D;D;D;B;D;D;B;D;D;D;D;B;D;B;D;D;D;D;P;D	0.87578	0.996;0.994;0.186;0.996;0.994;0.994;0.998;0.96;0.212;0.994;0.998;0.095;0.995;0.99;0.992;0.992;0.37;0.998;0.065;0.998;0.998;0.998;0.998;0.884;0.991	D	0.96515	0.9381	10	0.56958	D	0.05	.	13.4928	0.61407	0.0757:0.0:0.9243:0.0	.	1250;1247;1270;1250;1250;1250;1250;1250;1250;1270;1250;1221;1270;1250;1250;1250;1250;1250;1250;1250;1250;1250;1250;1250;1250	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	T	1275;1250;1250;1250;1250;1250;1250;1250;1250;1250;1270;1270;1250;1250;1250;1250;1250;1250;1250;1250;1250;1250;1250;1091	ENSP00000336982:A1275T;ENSP00000382563:A1250T;ENSP00000437936:A1250T;ENSP00000382552:A1250T;ENSP00000382547:A1250T;ENSP00000382506:A1250T;ENSP00000382530:A1250T;ENSP00000382546:A1250T;ENSP00000382500:A1250T;ENSP00000382549:A1250T;ENSP00000266376:A1270T;ENSP00000382515:A1270T;ENSP00000382510:A1250T;ENSP00000341092:A1250T;ENSP00000382537:A1250T;ENSP00000329877:A1250T;ENSP00000382557:A1250T;ENSP00000385724:A1250T;ENSP00000382512:A1250T;ENSP00000382542:A1250T;ENSP00000382526:A1250T;ENSP00000385896:A1250T;ENSP00000382504:A1250T	ENSP00000323129:A1091T	A	+	1	0	CACNA1C	2591360	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.723000	0.68492	2.570000	0.86706	0.655000	0.94253	GCC	CACNA1C-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317019.2		+	ENST00000399655.1	Missense_Mutation	SNP	12 : 2721099 - 2721099 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	237	25
ABCG1	9619	broad.mit.edu	37	21	43708092	43708092	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43708092A>G	ENST00000398437.1	+	10	1653	c.1505A>G	c.(1504-1506)gAc>gGc	p.D502G	ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Missense_Mutation_p.D358G|ABCG1_ENST00000343687.3_Missense_Mutation_p.D367G|ABCG1_ENST00000340588.4_Missense_Mutation_p.D464G|ABCG1_ENST00000398449.3_Missense_Mutation_p.D356G|ABCG1_ENST00000361802.2_Missense_Mutation_p.D356G|ABCG1_ENST00000347800.2_Missense_Mutation_p.D353G			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	356	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CACAAGAGAGACCTCGGGGGT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	172	172			NA	NA	21		NA											NA				43708092		2203	4300	6503	SO:0001583	missense			U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179	9619	9619		ATP binding cassette transporters / subfamily G	73	protein-coding gene	gene with protein product	ATP-binding cassette transporter 8	603076			NA	8659545, 16870176	Standard	NM_207174	NM_016818	NA	Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000398437.1:c.1505A>G	21.37:g.43708092A>G	ENSP00000381464:p.Asp502Gly	NA	Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	37		.	.	.	.	.	.	.	.	.	.	A	15.39	2.819420	0.50633	.	.	ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588	T;T;T;D;T;D;D	0.86562	0.93;0.93;0.93;-1.97;0.93;-2.14;-2.11	4.64	4.64	0.57946	.	0.570497	0.17962	N	0.156123	T	0.75686	0.3883	N	0.12746	0.255	0.51233	D	0.999913	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.08055	0.001;0.002;0.001;0.003;0.002;0.001	T	0.69034	-0.5252	9	.	.	.	-25.0065	14.0615	0.64802	1.0:0.0:0.0:0.0	.	367;367;356;356;353;358	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3	.;.;ABCG1_HUMAN;.;.;.	G	358;353;356;356;367;502;464	ENSP00000381475:D358G;ENSP00000291524:D353G;ENSP00000381467:D356G;ENSP00000354995:D356G;ENSP00000339744:D367G;ENSP00000381464:D502G;ENSP00000343820:D464G	.	D	+	2	0	ABCG1	42581161	0.982000	0.34865	0.557000	0.28306	0.974000	0.67602	5.067000	0.64357	1.729000	0.51567	0.383000	0.25322	GAC	ABCG1-008	KNOWN	non_canonical_TEC|basic	protein_coding	NA	protein_coding	OTTHUMT00000195320.1		+	ENST00000398437.1	Missense_Mutation	SNP	21 : 43708092 - 43708092 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1005	113
ZFHX4	79776	broad.mit.edu	37	8	77766811	77766811	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77766811C>A	ENST00000521891.2	+	10	8102	c.7654C>A	c.(7654-7656)Ctg>Atg	p.L2552M	ZFHX4_ENST00000050961.6_Missense_Mutation_p.L2507M|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L2507M|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L2526M	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2507						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGGACAACTGCTGGGCAGTTC	0.517		NA								HNSCC(33;0.089)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	95	95			NA	NA	8		NA											NA				77766811		1956	4140	6096	SO:0001583	missense				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656	79776	79776		Homeoboxes / ZF class	30939	protein-coding gene	gene with protein product		606940	zinc finger homeodomain 4		NA	10873665, 11935336	Standard	NM_024721	NM_024721	NA	Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7654C>A	8.37:g.77766811C>A	ENSP00000430497:p.Leu2552Met	NA	Q18PS0|Q6ZN20	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	12.26	1.885405	0.33255	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.58358	0.34;0.4;0.37;0.37	5.38	5.38	0.77491	.	0.000000	0.36628	U	0.002491	T	0.72748	0.3499	M	0.71581	2.175	0.54753	D	0.999984	D;D;P	0.69078	0.994;0.997;0.864	D;D;P	0.75484	0.98;0.986;0.706	T	0.72204	-0.4361	10	0.49607	T	0.09	.	19.3233	0.94252	0.0:1.0:0.0:0.0	.	2507;2507;2552	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	M	2552;2536;2507;2507;2526	ENSP00000430497:L2552M;ENSP00000399605:L2507M;ENSP00000050961:L2507M;ENSP00000430848:L2526M	ENSP00000050961:L2507M	L	+	1	2	ZFHX4	77929366	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	5.780000	0.68956	2.791000	0.96007	0.650000	0.86243	CTG	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379197.2		+	ENST00000521891.2	Missense_Mutation	SNP	8 : 77766811 - 77766811 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	479	13
CHST8	64377	broad.mit.edu	37	19	34263870	34263870	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34263870G>A	ENST00000262622.4	+	4	1935	c.1177G>A	c.(1177-1179)Gcc>Acc	p.A393T	CHST8_ENST00000434302.1_Missense_Mutation_p.A393T|CHST8_ENST00000438847.3_Missense_Mutation_p.A393T	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	NA					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CCAGTACTTCGCCCAACTCTC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	53	52			NA	NA	19		NA											NA				34263870		2203	4300	6503	SO:0001583	missense			AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302	64377	64377		Sulfotransferases, membrane-bound	15993	protein-coding gene	gene with protein product		610190			NA	10988300, 11001942	Standard	NM_022467	NM_001127895	NA	Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.1177G>A	19.37:g.34263870G>A	ENSP00000262622:p.Ala393Thr	NA	Q9H3N2	37	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	G	8.833	0.940439	0.18281	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.74315	-0.83;-0.83;-0.83	5.01	1.49	0.22878	.	0.304937	0.30820	N	0.008803	T	0.60843	0.2300	L	0.43757	1.38	0.44985	D	0.998006	B	0.10296	0.003	B	0.13407	0.009	T	0.45906	-0.9229	10	0.23302	T	0.38	-16.628	7.4665	0.27324	0.0819:0.0:0.6276:0.2906	.	393	Q9H2A9	CHST8_HUMAN	T	393	ENSP00000392604:A393T;ENSP00000393879:A393T;ENSP00000262622:A393T	ENSP00000262622:A393T	A	+	1	0	CHST8	38955710	0.964000	0.33143	0.410000	0.26471	0.260000	0.26232	0.929000	0.28844	0.103000	0.17682	0.297000	0.19635	GCC	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451453.1		+	ENST00000262622.4	Missense_Mutation	SNP	19 : 34263870 - 34263870 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	293	61
OR2T3	343173	broad.mit.edu	37	1	248636985	248636985	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248636985C>A	ENST00000359594.2	+	1	359	c.334C>A	c.(334-336)Ctg>Atg	p.L112M		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTACCTGACCCTGGCTGGAGC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	117	121			NA	NA	1		NA											NA				248636985		2194	4298	6492	SO:0001583	missense				CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539	343173	343173		GPCR / Class A : Olfactory receptors	14727	protein-coding gene	gene with protein product					NA		Standard	NM_001005495	NM_001005495	NA	Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.334C>A	1.37:g.248636985C>A	ENSP00000352604:p.Leu112Met	NA	B2RNJ1	37	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	c	14.18	2.457406	0.43634	.	.	ENSG00000196539	ENST00000359594	T	0.02525	4.26	2.22	-4.45	0.03546	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.09069	0.0224	M	0.70903	2.155	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.01316	-1.1387	9	0.54805	T	0.06	.	4.5458	0.12079	0.5484:0.258:0.0:0.1936	.	112	Q8NH03	OR2T3_HUMAN	M	112	ENSP00000352604:L112M	ENSP00000352604:L112M	L	+	1	2	OR2T3	246703608	0.000000	0.05858	0.000000	0.03702	0.663000	0.39108	-5.284000	0.00135	-1.852000	0.01166	0.186000	0.17326	CTG	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097348.1		+	ENST00000359594.2	Missense_Mutation	SNP	1 : 248636985 - 248636985 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	514	72
DHFR	1719	broad.mit.edu	37	5	79945254	79945254	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79945254G>A	ENST00000439211.2	-	3	689	c.196C>T	c.(196-198)Cga>Tga	p.R66*	DHFR_ENST00000505337.1_Nonsense_Mutation_p.R66*|DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000504396.1_Nonsense_Mutation_p.R14*|DHFR_ENST00000511032.1_Nonsense_Mutation_p.R66*	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	66	DHFR.				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	TTTAAAGGTCGATTCTTCTCA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	73	74			NA	NA	5		NA											NA				79945254		2103	4258	6361	SO:0001587	stop_gained				CCDS47240.1	5q11.2-q13.2	2012-10-02			ENSG00000228716	ENSG00000228716	1719	1719	1.5.1.3		2861	protein-coding gene	gene with protein product		126060			NA		Standard	NM_000791	XM_005248455	NA	Approved		uc003kgy.1	P00374	OTTHUMG00000162529	ENST00000439211.2:c.196C>T	5.37:g.79945254G>A	ENSP00000396308:p.Arg66*	NA	Q14130|Q6IRW8	37	CCDS47240.1	.	.	.	.	.	.	.	.	.	.	G	35	5.472449	0.96274	.	.	ENSG00000228716	ENST00000439211;ENST00000505337;ENST00000511032;ENST00000504396	.	.	.	5.41	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.8828	11.9172	0.52771	0.0:0.0:0.6481:0.3519	.	.	.	.	X	66;66;66;14	.	.	R	-	1	2	DHFR	79981010	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.417000	0.44653	1.209000	0.43321	0.557000	0.71058	CGA	DHFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369450.1		-	ENST00000439211.2	Nonsense_Mutation	SNP	5 : 79945254 - 79945254 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	407	75
UBR4	23352	broad.mit.edu	37	1	19486689	19486689	+	Silent	SNP	G	G	A	rs139582695	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19486689G>A	ENST00000375254.3	-	39	5520	c.5493C>T	c.(5491-5493)gcC>gcT	p.A1831A	UBR4_ENST00000375226.2_Silent_p.A1831A|UBR4_ENST00000375267.2_Silent_p.A1831A|UBR4_ENST00000375217.2_Silent_p.A1831A	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1831					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGCTCCCGACGGCTGAAGCTT	0.522		NA											G	4	0.0018	NA	0.0028	2184	NA	1	,	,	NA	3e-04	0.004	NA	NA	0.0019	0.9882	LOWCOV,EXOME	NA	NA	0.0026	SNP								NA				0								G		1,4405	2.1+/-5.4	0,1,2202	75	71	72		5493	-11.5	0.1	1	dbSNP_134	72	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	UBR4	NM_020765.2		0,7,6496	AA,AG,GG	NA	0.0698,0.0227,0.0538		1831/5184	19486689	7,12999	2203	4300	6503	SO:0001819	synonymous_variant			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481	23352	23352		Ubiquitin protein ligase E3 component n-recognins	30313	protein-coding gene	gene with protein product		609890	zinc finger, UBR1 type 1	ZUBR1	NA	14702039, 10718198, 16055722	Standard	NM_020765	XM_005245802	NA	Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.5493C>T	1.37:g.19486689G>A		NA	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	37	CCDS189.1																																																																																			UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007085.1		-	ENST00000375254.3	Silent	SNP	1 : 19486689 - 19486689 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	247	32
BCHE	590	broad.mit.edu	37	3	165504015	165504015	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:165504015C>T	ENST00000264381.3	-	3	1768	c.1602G>A	c.(1600-1602)gaG>gaA	p.E534E	BCHE_ENST00000540653.1_5'UTR	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	534					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TTCTTGTTGACTCTGTATTCA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	140	144			NA	NA	3		NA											NA				165504015		2203	4299	6502	SO:0001819	synonymous_variant			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	590	590	3.1.1.8		983	protein-coding gene	gene with protein product		177400	cholinesterase 1, cholinesterase (serum) 2	CHE1, CHE2	NA	1769657, 2318303	Standard		NM_000055	NA	Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1602G>A	3.37:g.165504015C>T		NA	A8K7P8	37	CCDS3198.1																																																																																			BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350254.1		-	ENST00000264381.3	Silent	SNP	3 : 165504015 - 165504015 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	232	41
TBCK	93627	broad.mit.edu	37	4	107170109	107170109	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:107170109G>T	ENST00000273980.5	-	9	1136	c.689C>A	c.(688-690)gCt>gAt	p.A230D	TBCK_ENST00000394706.3_Missense_Mutation_p.A191D|TBCK_ENST00000394708.2_Missense_Mutation_p.A230D|TBCK_ENST00000432496.2_Missense_Mutation_p.A230D|TBCK_ENST00000361687.4_Missense_Mutation_p.A167D			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	NA	Protein kinase.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						ATGCTCTTCAGCCAGAACTAT	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	80	81			NA	NA	4		NA											NA				107170109		2202	4299	6501	SO:0001583	missense				CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348	93627	93627			28261	protein-coding gene	gene with protein product					NA	12471243	Standard	NM_033115	XR_427553	NA	Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.689C>A	4.37:g.107170109G>T	ENSP00000273980:p.Ala230Asp	NA	B9A6J1|Q4W5B3|Q4W5E1|Q6NUP4|Q8N7M8|Q8WW57|Q96GV6|Q9P080	37	CCDS54788.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714128	0.89112	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708	T;T;T;T;T	0.08370	3.1;3.1;3.1;3.1;3.1	5.45	5.45	0.79879	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.094859	0.64402	D	0.000001	T	0.19685	0.0473	L	0.46741	1.465	0.80722	D	1	P;P;P	0.50272	0.933;0.828;0.917	P;B;P	0.58266	0.836;0.394;0.747	T	0.00053	-1.2186	10	0.72032	D	0.01	.	14.8371	0.70192	0.0:0.1436:0.8564:0.0	.	230;191;167	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	D	230;230;167;191;230	ENSP00000273980:A230D;ENSP00000405847:A230D;ENSP00000355338:A167D;ENSP00000378196:A191D;ENSP00000378198:A230D	ENSP00000273980:A230D	A	-	2	0	TBCK	107389558	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.180000	0.77674	2.547000	0.85894	0.650000	0.86243	GCT	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253953.4		-	ENST00000273980.5	Missense_Mutation	SNP	4 : 107170109 - 107170109 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	187	35
MAGED2	10916	broad.mit.edu	37	X	54837363	54837363	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54837363G>T	ENST00000375068.1	+	4	880	c.647G>T	c.(646-648)aGg>aTg	p.R216M	MAGED2_ENST00000375062.4_Intron|MAGED2_ENST00000375058.1_Missense_Mutation_p.R216M|MAGED2_ENST00000375060.1_Intron|MAGED2_ENST00000375053.2_Missense_Mutation_p.R216M|MAGED2_ENST00000396224.1_Missense_Mutation_p.R216M|MAGED2_ENST00000218439.4_Missense_Mutation_p.R216M|MAGED2_ENST00000347546.4_Missense_Mutation_p.R198M|MAGED2_ENST00000497484.1_3'UTR			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	216	Arg-rich.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						ATGGCCCGCAGGGCTTCAAGG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	27	27			NA	NA	X		NA											NA				54837363		2203	4300	6503	SO:0001583	missense			AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316	10916	10916			16353	protein-coding gene	gene with protein product	hepatocellular carcinoma associated protein, breast cancer associated gene 1, melanoma-associated antigen D2, hepatocellular carcinoma-associated protein HCA10	300470			NA		Standard	NM_014599	NM_014599	NA	Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.647G>T	X.37:g.54837363G>T	ENSP00000364209:p.Arg216Met	NA	A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	37	CCDS14362.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.100578	0.56183	.	.	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000347546;ENST00000343474;ENST00000218439;ENST00000375058;ENST00000396224	T;T;T;T;T;T;T	0.73152	3.76;3.76;3.69;-0.72;3.76;3.76;3.76	3.85	3.85	0.44370	.	0.000000	0.48286	D	0.000184	T	0.64735	0.2625	N	0.08118	0	0.27613	N	0.948598	D;D	0.64830	0.994;0.99	D;D	0.77004	0.989;0.974	T	0.55761	-0.8090	10	0.30854	T	0.27	.	8.6097	0.33795	0.0:0.2301:0.7699:0.0	.	198;216	Q9UNF1-2;Q9UNF1	.;MAGD2_HUMAN	M	216;216;160;198;216;216;216	ENSP00000364209:R216M;ENSP00000364193:R216M;ENSP00000336962:R160M;ENSP00000340290:R198M;ENSP00000218439:R216M;ENSP00000364198:R216M;ENSP00000379526:R216M	ENSP00000218439:R216M	R	+	2	0	MAGED2	54854088	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.242000	0.58714	2.175000	0.68902	0.600000	0.82982	AGG	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056821.2		+	ENST00000375068.1	Missense_Mutation	SNP	X : 54837363 - 54837363 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	83	15
NFKBIA	4792	broad.mit.edu	37	14	35872963	35872963	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35872963G>A	ENST00000557140.1	-	2	370	c.269C>T	c.(268-270)aCc>aTc	p.T90I	NFKBIA_ENST00000216797.5_Missense_Mutation_p.T90I|NFKBIA_ENST00000557389.1_5'UTR|NFKBIA_ENST00000557100.1_5'UTR			P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	90					anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|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	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		CACTTCCATGGTCAGTGCCTT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	67	71			NA	NA	14		NA											NA				35872963		2203	4300	6503	SO:0001583	missense				CCDS9656.1	14q13	2014-09-17			ENSG00000100906	ENSG00000100906	4792	4792		Ankyrin repeat domain containing	7797	protein-coding gene	gene with protein product		164008		NFKBI	NA	1829648	Standard	NM_020529	NM_020529	NA	Approved	IKBA, MAD-3, IkappaBalpha	uc001wtf.4	P25963	OTTHUMG00000140220	ENST00000557140.1:c.269C>T	14.37:g.35872963G>A	ENSP00000451257:p.Thr90Ile	NA	B2R8L6	37		.	.	.	.	.	.	.	.	.	.	G	18.99	3.739977	0.69304	.	.	ENSG00000100906	ENST00000216797;ENST00000557140;ENST00000553342	T;T;T	0.78924	-0.01;-0.01;-1.22	5.93	5.93	0.95920	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.57051	0.2027	N	0.04508	-0.205	0.80722	D	1	B;B	0.22211	0.053;0.066	B;B	0.24974	0.019;0.057	T	0.55673	-0.8104	9	0.37606	T	0.19	-17.6661	9.3287	0.38008	0.0777:0.1894:0.7329:0.0	.	90;90	G3V3I4;P25963	.;IKBA_HUMAN	I	90;90;66	ENSP00000216797:T90I;ENSP00000451257:T90I;ENSP00000451281:T66I	ENSP00000216797:T90I	T	-	2	0	NFKBIA	34942714	0.991000	0.36638	0.999000	0.59377	0.963000	0.63663	2.637000	0.46553	2.814000	0.96858	0.563000	0.77884	ACC	NFKBIA-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000411491.1		-	ENST00000557140.1	Missense_Mutation	SNP	14 : 35872963 - 35872963 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	158	28
INTS5	80789	broad.mit.edu	37	11	62416125	62416125	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62416125G>A	ENST00000330574.2	-	2	1479	c.1427C>T	c.(1426-1428)gCg>gTg	p.A476V		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	476					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GTTTTTGAGCGCATCTAAAAA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA	0,4404		0,0,2202	74	77	76		1427	4	0.9	11		76	1,8597	1.2+/-3.3	0,1,4298	no	missense	INTS5	NM_030628.1	64	0,1,6500	AA,AG,GG	NA	0.0116,0.0,0.0077	possibly-damaging	476/1020	62416125	1,13001	2202	4299	6501	SO:0001583	missense			AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085	80789	80789			29352	protein-coding gene	gene with protein product		611349	KIAA1698	KIAA1698	NA	16239144	Standard	NM_030628	NM_030628	NA	Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.1427C>T	11.37:g.62416125G>A	ENSP00000327889:p.Ala476Val	NA	Q8N6W5|Q9C0G5	37	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.551340	0.27739	0.0	1.16E-4	ENSG00000185085	ENST00000330574	.	.	.	4.87	3.96	0.45880	.	0.059338	0.64402	D	0.000003	T	0.34513	0.0900	N	0.14661	0.345	0.34055	D	0.65659	B	0.15141	0.012	B	0.06405	0.002	T	0.43621	-0.9380	9	0.54805	T	0.06	.	10.9735	0.47452	0.0909:0.0:0.9091:0.0	.	476	Q6P9B9	INT5_HUMAN	V	476	.	ENSP00000327889:A476V	A	-	2	0	INTS5	62172701	1.000000	0.71417	0.859000	0.33776	0.547000	0.35210	3.528000	0.53524	1.287000	0.44583	-0.140000	0.14226	GCG	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395327.1		-	ENST00000330574.2	Missense_Mutation	SNP	11 : 62416125 - 62416125 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	876	157
ZNF282	8427	broad.mit.edu	37	7	148921304	148921304	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148921304C>T	ENST00000262085.3	+	8	1686	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F	ZNF282_ENST00000479907.1_Intron	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	527					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		GCAAGAGCTTCGGCGTGCGCA	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	24	25			NA	NA	7		NA											NA				148921304		2203	4299	6502	SO:0001819	synonymous_variant			D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265	8427	8427		Zinc fingers, C2H2-type, -	13076	protein-coding gene	gene with protein product		603397			NA	9396811	Standard	NM_003575	NM_003575	NA	Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.1581C>T	7.37:g.148921304C>T		NA	O43691|Q6DKK0	37	CCDS5895.1																																																																																			ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352746.1		+	ENST00000262085.3	Silent	SNP	7 : 148921304 - 148921304 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	235	51
CHAF1A	10036	broad.mit.edu	37	19	4409479	4409479	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4409479C>T	ENST00000301280.5	+	3	784	c.683C>T	c.(682-684)gCt>gTt	p.A228V		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	228	Binds to CBX1 chromo shadow domain.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAGTGAAGCTGGGGGCATC	0.592		NA						Chromatin Structure						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	101	98			NA	NA	19		NA											NA				4409479		2203	4300	6503	SO:0001583	missense			U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670	10036	10036			1910	protein-coding gene	gene with protein product	chromatin assembly factor I (150 kDa)	601246			NA	7600578	Standard	NM_005483	NM_005483	NA	Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.683C>T	19.37:g.4409479C>T	ENSP00000301280:p.Ala228Val	NA	Q6NXG5|Q7Z7K3|Q9UJY8	37	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.355976	0.41700	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.57273	0.41	5.78	4.55	0.56014	.	.	.	.	.	T	0.41789	0.1174	L	0.34521	1.04	0.09310	N	1	P	0.36753	0.568	B	0.36608	0.229	T	0.38001	-0.9681	9	0.87932	D	0	-33.0748	8.718	0.34423	0.0:0.8566:0.0:0.1434	.	228	Q13111	CAF1A_HUMAN	V	228	ENSP00000301280:A228V	ENSP00000301280:A228V	A	+	2	0	CHAF1A	4360479	0.785000	0.28726	0.149000	0.22428	0.362000	0.29581	2.147000	0.42226	2.721000	0.93114	0.561000	0.74099	GCT	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458310.2		+	ENST00000301280.5	Missense_Mutation	SNP	19 : 4409479 - 4409479 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	362	54
F10	2159	broad.mit.edu	37	13	113803779	113803779	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113803779C>A	ENST00000375551.3	+	0	1447				F10_ENST00000375559.3_Missense_Mutation_p.P472H			P00742	FA10_HUMAN	coagulation factor X	NA					blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGGGCTTGCCCAAGGCCAAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	95	101			NA	NA	13		NA											NA				113803779		2203	4300	6503	SO:0001624	3_prime_UTR_variant				CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	2159	2159	3.4.21.6		3528	protein-coding gene	gene with protein product		613872			NA		Standard		XM_005268298	NA	Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375551.3:c.*406C>A	13.37:g.113803779C>A		NA	Q14340	37		.	.	.	.	.	.	.	.	.	.	C	9.834	1.189142	0.21954	.	.	ENSG00000126218	ENST00000375559	D	0.92199	-2.99	2.37	2.37	0.29283	.	2.443350	0.01620	N	0.022984	D	0.89206	0.6649	L	0.46157	1.445	0.09310	N	1	B	0.16166	0.016	B	0.06405	0.002	T	0.73572	-0.3940	9	.	.	.	.	8.3325	0.32195	0.0:1.0:0.0:0.0	.	472	P00742	FA10_HUMAN	H	472	ENSP00000364709:P472H	.	P	+	2	0	F10	112851780	0.001000	0.12720	0.007000	0.13788	0.018000	0.09664	0.876000	0.28092	1.626000	0.50381	0.561000	0.74099	CCC	F10-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000045842.1		+	ENST00000375551.3	3'UTR	SNP	13 : 113803779 - 113803779 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	473	72
PYROXD1	79912	broad.mit.edu	37	12	21598390	21598390	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21598390G>T	ENST00000538582.1	+	3	815	c.62G>T	c.(61-63)aGt>aTt	p.S21I	PYROXD1_ENST00000545178.1_Missense_Mutation_p.S92I|PYROXD1_ENST00000240651.9_Missense_Mutation_p.S92I			Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	92							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						CAACTGAAGAGTGAAGAACAC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	58	58			NA	NA	12		NA											NA				21598390		2203	4300	6503	SO:0001583	missense			AL832441	CCDS31755.1	12p12.1	2014-02-12			ENSG00000121350	ENSG00000121350	79912	79912			26162	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024854	NM_024854	NA	Approved	DKFZp762G094, FLJ22028	uc001rew.3	Q8WU10	OTTHUMG00000169129	ENST00000538582.1:c.62G>T	12.37:g.21598390G>T	ENSP00000438505:p.Ser21Ile	NA	A6NKI6|Q9H6P1	37		.	.	.	.	.	.	.	.	.	.	G	13.34	2.208227	0.39003	.	.	ENSG00000121350	ENST00000545178;ENST00000240651;ENST00000538582	T;T;T	0.47869	0.85;0.85;0.83	5.3	4.36	0.52297	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.168957	0.64402	D	0.000004	T	0.47619	0.1455	M	0.64567	1.98	0.52501	D	0.999955	B	0.25272	0.122	B	0.29176	0.099	T	0.43180	-0.9407	10	0.19147	T	0.46	.	17.5454	0.87859	0.0:0.1342:0.8658:0.0	.	92	Q8WU10	PYRD1_HUMAN	I	92;92;21	ENSP00000443912:S92I;ENSP00000240651:S92I;ENSP00000438505:S21I	ENSP00000240651:S92I	S	+	2	0	PYROXD1	21489657	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.707000	0.61852	2.463000	0.83235	0.650000	0.86243	AGT	PYROXD1-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000402365.1		+	ENST00000538582.1	Missense_Mutation	SNP	12 : 21598390 - 21598390 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	200	26
MMP8	4317	broad.mit.edu	37	11	102595565	102595565	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102595565G>A	ENST00000236826.3	-	1	120	c.22C>T	c.(22-24)Cca>Tca	p.P8S		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	8					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		AGCAGAAATGGAAGCGTCTTC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	175	171			NA	NA	11		NA											NA				102595565		2203	4299	6502	SO:0001583	missense			J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	4317	4317	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	matrix metalloproteinase 8 (neutrophil collagenase)	CLG1	NA		Standard	NM_002424	NM_002424	NA	Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.22C>T	11.37:g.102595565G>A	ENSP00000236826:p.Pro8Ser	NA	Q45F99	37	CCDS8320.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702308	0.30232	.	.	ENSG00000118113	ENST00000236826	T	0.12361	2.69	5.26	0.871	0.19107	.	1.388890	0.04912	N	0.453405	T	0.13543	0.0328	L	0.45352	1.415	0.09310	N	1	B	0.20052	0.041	B	0.16289	0.015	T	0.42015	-0.9476	10	0.15499	T	0.54	.	11.4239	0.49998	0.0:0.5293:0.3352:0.1356	.	8	P22894	MMP8_HUMAN	S	8	ENSP00000236826:P8S	ENSP00000236826:P8S	P	-	1	0	MMP8	102100775	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.246000	0.18160	-0.023000	0.13963	-0.176000	0.13171	CCA	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395223.1		-	ENST00000236826.3	Missense_Mutation	SNP	11 : 102595565 - 102595565 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	889	170
MLST8	64223	broad.mit.edu	37	16	2256400	2256400	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2256400T>C	ENST00000569417.1	+	3	525	c.171T>C	c.(169-171)atT>atC	p.I57I	MLST8_ENST00000564088.1_Silent_p.I57I|MLST8_ENST00000301724.10_Silent_p.I57I|MLST8_ENST00000382450.4_Silent_p.I56I|MLST8_ENST00000301725.7_Silent_p.I76I|MLST8_ENST00000565250.1_Silent_p.I57I|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000397124.1_Silent_p.I57I	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	57					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						GCAGCATGATTGCTGCTGCAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	115	115			NA	NA	16		NA											NA				2256400		2032	4170	6202	SO:0001819	synonymous_variant				CCDS10462.2, CCDS58409.1	16p13.3	2013-01-09			ENSG00000167965	ENSG00000167965	64223	64223		WD repeat domain containing	24825	protein-coding gene	gene with protein product	G protein beta subunit like	612190			NA	12477932	Standard	NM_022372	NM_022372	NA	Approved	Lst8, Pop3, GBL, GbetaL	uc002cpc.3	Q9BVC4	OTTHUMG00000128827	ENST00000569417.1:c.171T>C	16.37:g.2256400T>C		NA	B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6	37	CCDS10462.2																																																																																			MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250763.2		+	ENST00000569417.1	Silent	SNP	16 : 2256400 - 2256400 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	470	82
HBQ1	3049	broad.mit.edu	37	16	231010	231010	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:231010C>T	ENST00000199708.2	+	3	366	c.332C>T	c.(331-333)gCc>gTc	p.A111V		NM_005331.4	NP_005322.1	P09105	HBAT_HUMAN	hemoglobin, theta 1	111						hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			large_intestine(1)	1		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				GTAACCCTCGCCCGGCACTAC	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	27	26			NA	NA	16		NA											NA				231010		2203	4299	6502	SO:0001583	missense			BC056686	CCDS10400.1	16p13.3	2014-05-19			ENSG00000086506	ENSG00000086506	3049	3049			4833	protein-coding gene	gene with protein product		142240			NA	2649166	Standard	NM_005331	NM_005331	NA	Approved	HBQ	uc002cfz.3	P09105	OTTHUMG00000060727	ENST00000199708.2:c.332C>T	16.37:g.231010C>T	ENSP00000199708:p.Ala111Val	NA	Q13723|Q1W6G5	37	CCDS10400.1	.	.	.	.	.	.	.	.	.	.	c	17.88	3.497944	0.64186	.	.	ENSG00000086506	ENST00000199708	D	0.94966	-3.57	3.83	2.87	0.33458	Globin-like (1);Globin, structural domain (1);	0.000000	0.85682	D	0.000000	D	0.97077	0.9045	M	0.89095	3.005	0.45899	D	0.998748	D	0.89917	1.0	D	0.83275	0.996	D	0.96715	0.9528	10	0.87932	D	0	-22.2468	10.336	0.43850	0.0:0.9026:0.0:0.0974	.	111	P09105	HBAT_HUMAN	V	111	ENSP00000199708:A111V	ENSP00000199708:A111V	A	+	2	0	HBQ1	171010	0.968000	0.33430	0.881000	0.34555	0.993000	0.82548	2.412000	0.44609	0.819000	0.34492	0.486000	0.48141	GCC	HBQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000134226.1		+	ENST00000199708.2	Missense_Mutation	SNP	16 : 231010 - 231010 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	239	41
TRIM45	80263	broad.mit.edu	37	1	117658224	117658224	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117658224C>A	ENST00000256649.4	-	4	1966	c.1440G>T	c.(1438-1440)tgG>tgT	p.W480C	TRIM45_ENST00000369461.3_Missense_Mutation_p.W423C|TRIM45_ENST00000369464.3_Missense_Mutation_p.W462C	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	480						cytoplasm|nucleus	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		TGATGCAGACCCACACAGTAT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													249	208	222			NA	NA	1		NA											NA				117658224		2203	4300	6503	SO:0001583	missense				CCDS893.1, CCDS44200.1	1p13.1	2011-04-20	2011-01-25		ENSG00000134253	ENSG00000134253	80263	80263		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	19018	protein-coding gene	gene with protein product		609318	tripartite motif-containing 45		NA	15351693	Standard	NM_025188	NM_025188	NA	Approved	FLJ13181, RNF99	uc001egz.2	Q9H8W5	OTTHUMG00000012119	ENST00000256649.4:c.1440G>T	1.37:g.117658224C>A	ENSP00000256649:p.Trp480Cys	NA	Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	37	CCDS893.1	.	.	.	.	.	.	.	.	.	.	C	7.517	0.655905	0.14580	.	.	ENSG00000134253	ENST00000256649;ENST00000369464;ENST00000369461	D;D;D	0.83755	-1.76;-1.76;-1.76	4.91	2.95	0.34219	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.406040	0.28595	N	0.014782	T	0.52125	0.1715	N	0.10837	0.055	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.002;0.004	T	0.51865	-0.8651	10	0.35671	T	0.21	-7.111	12.0408	0.53452	0.0:0.5466:0.4534:0.0	.	462;480	Q9H8W5-2;Q9H8W5	.;TRI45_HUMAN	C	480;462;423	ENSP00000256649:W480C;ENSP00000358476:W462C;ENSP00000358473:W423C	ENSP00000256649:W480C	W	-	3	0	TRIM45	117459747	1.000000	0.71417	0.998000	0.56505	0.267000	0.26476	2.562000	0.45914	1.292000	0.44672	0.563000	0.77884	TGG	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033503.1		-	ENST00000256649.4	Missense_Mutation	SNP	1 : 117658224 - 117658224 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	35
SYNE1	23345	broad.mit.edu	37	6	152477184	152477184	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152477184G>T	ENST00000367255.5	-	132	24440	c.23839C>A	c.(23839-23841)Ctc>Atc	p.L7947I	SYNE1_ENST00000448038.1_Missense_Mutation_p.L7876I|SYNE1_ENST00000423061.1_Missense_Mutation_p.L7876I|SYNE1_ENST00000341594.5_Missense_Mutation_p.L7559I|SYNE1_ENST00000539504.1_Missense_Mutation_p.L102I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Missense_Mutation_p.L102I|SYNE1_ENST00000265368.4_Missense_Mutation_p.L7947I|SYNE1_ENST00000356820.4_Missense_Mutation_p.L2471I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7947					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CACAGGTTGAGGACAGATGCA	0.512		NA								HNSCC(10;0.0054)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	126	131			NA	NA	6		NA											NA				152477184		2203	4300	6503	SO:0001583	missense			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018	23345	23345			17089	protein-coding gene	gene with protein product	myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1	608441	chromosome 6 open reading frame 98	C6orf98	NA	9872452, 10878022	Standard	NM_182961	NM_182961	NA	Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.23839C>A	6.37:g.152477184G>T	ENSP00000356224:p.Leu7947Ile	NA	O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738670	0.89573	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.56	5.56	0.83823	.	0.000000	0.52532	D	0.000072	T	0.69869	0.3159	M	0.84846	2.72	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.997	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.968	T	0.72500	-0.4274	10	0.59425	D	0.04	.	19.8856	0.96911	0.0:0.0:1.0:0.0	.	7947;7947;7876;7876;149	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	I	7947;102;593;7876;7947;7876;7559;2471;109;104;869;102	ENSP00000356224:L7947I;ENSP00000441052:L102I;ENSP00000356226:L593I;ENSP00000396024:L7876I;ENSP00000265368:L7947I;ENSP00000390975:L7876I;ENSP00000341887:L7559I;ENSP00000349276:L2471I;ENSP00000356220:L869I;ENSP00000346701:L102I	ENSP00000265368:L7947I	L	-	1	0	SYNE1	152518877	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.722000	0.68485	2.771000	0.95319	0.650000	0.86243	CTC	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334755.2		-	ENST00000367255.5	Missense_Mutation	SNP	6 : 152477184 - 152477184 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	402	71
ATP4A	495	broad.mit.edu	37	19	36054427	36054427	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36054427C>T	ENST00000262623.3	-	2	43	c.15G>A	c.(13-15)gaG>gaA	p.E5E		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	5					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GCTCATAGTTCTCCTGGGAAT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	102	100			NA	NA	19		NA											NA				36054427		2203	4300	6503	SO:0001819	synonymous_variant				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	495	495	3.6.3.10	ATPases / P-type	819	protein-coding gene	gene with protein product	gastric H,K-ATPase alpha subunit, H(+)-K(+)-ATPase alpha subunit, proton pump	137216			NA	1330887	Standard	NM_000704	NM_000704	NA	Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.15G>A	19.37:g.36054427C>T		NA	O00738	37	CCDS12467.1																																																																																			ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109470.2		-	ENST00000262623.3	Silent	SNP	19 : 36054427 - 36054427 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	978	196
TMED8	283578	broad.mit.edu	37	14	77810118	77810118	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77810118G>A	ENST00000216468.7	-	4	431	c.376C>T	c.(376-378)Cag>Tag	p.Q126*		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	126					transport	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		TGTTCAGACTGGATCATAACG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	150	152			NA	NA	14		NA											NA				77810118		2203	4300	6503	SO:0001587	stop_gained			AK095650	CCDS32125.1	14q24.3	2005-08-26	2005-08-26	2005-01-07		ENSG00000100580	283578	283578			18633	protein-coding gene	gene with protein product			family with sequence similarity 15, member B, transmembrane emp24 domain containing 8	FAM15B	NA		Standard	NM_213601	NM_213601	NA	Approved		uc001xto.1	Q6PL24		ENST00000216468.7:c.376C>T	14.37:g.77810118G>A	ENSP00000216468:p.Gln126*	NA	B3KTI6|Q3MJB0|Q9P1V9	37	CCDS32125.1	.	.	.	.	.	.	.	.	.	.	G	35	5.492065	0.96339	.	.	ENSG00000100580	ENST00000216468	.	.	.	5.98	5.98	0.97165	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	20.4293	0.99080	0.0:0.0:1.0:0.0	.	.	.	.	X	126	.	ENSP00000216468:Q126X	Q	-	1	0	TMED8	76879871	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.359000	0.73060	2.833000	0.97629	0.655000	0.94253	CAG	TMED8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414100.1		-	ENST00000216468.7	Nonsense_Mutation	SNP	14 : 77810118 - 77810118 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	628	120
GIMAP8	155038	broad.mit.edu	37	7	150171653	150171653	+	Silent	SNP	G	G	A	rs149276246	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150171653G>A	ENST00000307271.3	+	4	1810	c.1236G>A	c.(1234-1236)gcG>gcA	p.A412A		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	412						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	p.A412A(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AAAGGCAGGCGGACGAGCTCC	0.413		NA											A	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.9547	EXOME	NA	NA	3e-04	SNP								NA				1	Substitution - coding silent(1)	lung(1)						A		0,4406		0,0,2203	91	99	96		1236	-2.8	0	7	dbSNP_134	96	9,8591	818.9+/-406.8	0,9,4291	no	coding-synonymous	GIMAP8	NM_175571.2		0,9,6494	AA,AG,GG	NA	0.1047,0.0,0.0692		412/666	150171653	9,12997	2203	4300	6503	SO:0001819	synonymous_variant			AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115	155038	155038		GTPases, IMAP	21792	protein-coding gene	gene with protein product	immune-associated nucleotide-binding protein 9				NA	15474311	Standard	NM_175571	XM_005249951	NA	Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1236G>A	7.37:g.150171653G>A		NA		37	CCDS34777.1																																																																																			GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350701.1		+	ENST00000307271.3	Silent	SNP	7 : 150171653 - 150171653 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	569	88
MTOR	2475	broad.mit.edu	37	1	11194521	11194521	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11194521G>A	ENST00000361445.4	-	37	5209	c.5133C>T	c.(5131-5133)atC>atT	p.I1711I	MTOR_ENST00000495435.1_5'UTR	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1711	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.I1711I(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GGAAGGCATCGATCTGTAACA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											152	111	125			NA	NA	1		NA											NA				11194521		2203	4300	6503	SO:0001819	synonymous_variant			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793	2475	2475			3942	protein-coding gene	gene with protein product	FK506 binding protein 12-rapamycin associated protein 2, rapamycin target protein, FKBP12-rapamycin complex-associated protein 1, FKBP-rapamycin associated protein, rapamycin associated protein FRAP2, dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1), rapamycin and FKBP12 target 1, mammalian target of rapamycin	601231	FK506 binding protein 12-rapamycin associated protein 1	FRAP, FRAP2, FRAP1	NA	8008069, 8660990	Standard	NM_004958	NM_004958	NA	Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5133C>T	1.37:g.11194521G>A		NA	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	37	CCDS127.1																																																																																			MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005558.1		-	ENST00000361445.4	Silent	SNP	1 : 11194521 - 11194521 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	346	37
C12orf55	0	broad.mit.edu	37	12	97157959	97157959	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:97157959G>A	ENST00000524981.4	+	59	8094	c.8071G>A	c.(8071-8073)Gaa>Aaa	p.E2691K							NA											NA						TTCTGTTAAAGAAACATCAGC	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	119	119			NA	NA	12		NA											NA				97157959		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000524981.4:c.8071G>A	12.37:g.97157959G>A	ENSP00000431759:p.Glu2691Lys	NA		37		.	.	.	.	.	.	.	.	.	.	G	15.05	2.718102	0.48622	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.38	5.38	0.77491	.	0.204668	0.33938	N	0.004418	T	0.51907	0.1702	L	0.56769	1.78	0.09310	N	0.999997	P	0.40731	0.728	B	0.43623	0.425	T	0.53479	-0.8433	9	0.56958	D	0.05	-12.0459	16.8994	0.86109	0.0:0.0:1.0:0.0	.	1116	Q6ZTY8	CL063_HUMAN	K	2691;1116	.	ENSP00000345466:E1116K	E	+	1	0	C12orf63	95682090	0.130000	0.22417	0.397000	0.26308	0.071000	0.16799	1.712000	0.37940	2.512000	0.84698	0.561000	0.74099	GAA	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000395046.4		+	ENST00000524981.4	Missense_Mutation	SNP	12 : 97157959 - 97157959 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	184	26
LIMS2	55679	broad.mit.edu	37	2	128412001	128412001	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128412001C>T	ENST00000409455.1	-	4	976	c.341G>A	c.(340-342)gGc>gAc	p.G114D	LIMS2_ENST00000324938.5_Missense_Mutation_p.G143D|LIMS2_ENST00000355119.4_Missense_Mutation_p.G119D|LIMS2_ENST00000545738.2_Missense_Mutation_p.G141D|LIMS2_ENST00000409808.2_Missense_Mutation_p.G114D|LIMS2_ENST00000410011.1_Missense_Mutation_p.G114D			Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	119	LIM zinc-binding 2.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		ACCTCACCTGCCGGCATTCTT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	84	86			NA	NA	2		NA											NA				128412001		2203	4300	6503	SO:0001583	missense			AF520987	CCDS2147.1, CCDS54394.1, CCDS54395.1, CCDS54396.1, CCDS58725.1	2q21.1	2008-02-05			ENSG00000072163	ENSG00000072163	55679	55679			16084	protein-coding gene	gene with protein product		607908			NA		Standard	NM_017980	NM_017980	NA	Approved		uc002tox.3	Q7Z4I7	OTTHUMG00000131529	ENST00000409455.1:c.341G>A	2.37:g.128412001C>T	ENSP00000386383:p.Gly114Asp	NA	A6NLH0|Q7Z4I6|Q7Z4I8|Q8NFE7|Q9HA13	37	CCDS54394.1	.	.	.	.	.	.	.	.	.	.	.	19.29	3.799268	0.70567	.	.	ENSG00000072163	ENST00000545738;ENST00000355119;ENST00000324938;ENST00000409455;ENST00000410109;ENST00000409808;ENST00000410011;ENST00000544917;ENST00000422034	D;D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4;-2.4	5.37	5.37	0.77165	Zinc finger, LIM-type (4);	0.106914	0.64402	D	0.000004	D	0.92678	0.7673	M	0.63428	1.95	0.80722	D	1	P;D;D	0.63046	0.875;0.983;0.992	P;P;P	0.59357	0.614;0.836;0.856	D	0.92089	0.5679	10	0.44086	T	0.13	.	19.0997	0.93269	0.0:1.0:0.0:0.0	.	141;119;143	F5H6E6;Q7Z4I7;Q7Z4I7-2	.;LIMS2_HUMAN;.	D	141;119;143;114;114;114;114;141;114	ENSP00000443794:G141D;ENSP00000347240:G119D;ENSP00000326888:G143D;ENSP00000386383:G114D;ENSP00000386637:G114D;ENSP00000387002:G114D	ENSP00000326888:G143D	G	-	2	0	LIMS2	128128471	1.000000	0.71417	0.909000	0.35828	0.102000	0.19082	5.983000	0.70540	2.523000	0.85059	0.609000	0.83330	GGC	LIMS2-004	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331108.1		-	ENST00000409455.1	Missense_Mutation	SNP	2 : 128412001 - 128412001 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	546	99
PMS2	5395	broad.mit.edu	37	7	6035166	6035166	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6035166T>G	ENST00000265849.7	-	8	1007	c.902A>C	c.(901-903)aAg>aCg	p.K301T	PMS2_ENST00000406569.3_Splice_Site_p.K301T|PMS2_ENST00000441476.2_Splice_Site_p.K195T|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000382321.4_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	301					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TTTAAATACCTTTGCTGGGTC	0.388		NA	Mis, N, F			colorectal, endometrial, ovarian, medulloblastoma, glioma		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Hereditary non-polyposis colorectal cancer, Turcot syndrome	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	0													82	78	80			NA	NA	7		NA											NA				6035166		2203	4300	6503	SO:0001630	splice_region_variant	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512	5395	5395			9122	protein-coding gene	gene with protein product		600259	postmeiotic segregation increased (S. cerevisiae) 2	PMSL2	NA	8072530	Standard	NM_000535	NM_000535	NA	Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.903+1A>C	7.37:g.6035166T>G		NA	B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	37	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	t	19.36	3.813482	0.70912	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476;ENST00000406569	D;D;D	0.84223	-1.82;-1.82;-1.82	5.72	5.72	0.89469	Ribosomal protein S5 domain 2-type fold (1);DNA mismatch repair protein, N-terminal (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);DNA mismatch repair protein, C-terminal (1);	0.157726	0.56097	D	0.000039	D	0.91129	0.7207	M	0.84082	2.675	0.80722	D	1	P;D;P	0.57899	0.715;0.981;0.88	P;P;P	0.60068	0.47;0.868;0.603	D	0.89580	0.3820	10	0.20519	T	0.43	-21.4466	16.0509	0.80763	0.0:0.0:0.0:1.0	.	301;301;195	P54278-3;P54278;C9J167	.;PMS2_HUMAN;.	T	301;254;195;301	ENSP00000265849:K301T;ENSP00000392843:K195T;ENSP00000384308:K301T	ENSP00000265849:K301T	K	-	2	0	PMS2	6001692	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.957000	0.70323	2.188000	0.69820	0.456000	0.33151	AAG	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207353.3	Missense_Mutation	-	ENST00000265849.7	Splice_Site	SNP	7 : 6035166 - 6035166 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	68
CD59	966	broad.mit.edu	37	11	33739011	33739011	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33739011C>A	ENST00000533403.1	-	3	118	c.74G>T	c.(73-75)aGc>aTc	p.S25I	CD59_ENST00000534312.1_Missense_Mutation_p.S25I|CD59_ENST00000528700.1_Missense_Mutation_p.S25I|CD59_ENST00000527577.1_Missense_Mutation_p.S25I|CD59_ENST00000415002.2_Missense_Mutation_p.S25I|CD59_ENST00000395850.3_Missense_Mutation_p.S25I|CD59_ENST00000426650.2_Missense_Mutation_p.S25I|CD59_ENST00000437761.2_Missense_Mutation_p.S25I|CD59_ENST00000445143.2_Missense_Mutation_p.S25I|CD59_ENST00000351554.3_Missense_Mutation_p.S25I			P13987	CD59_HUMAN	CD59 molecule, complement regulatory protein	25					blood coagulation|cell surface receptor linked signaling pathway	anchored to external side of plasma membrane|extracellular region|membrane fraction				endometrium(1)|lung(2)	3						GCACTGCAGGCTATGACCTAG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	83	86			NA	NA	11		NA											NA				33739011		2202	4298	6500	SO:0001583	missense				CCDS7886.1	11p13	2014-09-17	2006-03-28			ENSG00000085063	966	966		CD molecules, Complement system	1689	protein-coding gene	gene with protein product		107271	CD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and G344), CD59 antigen, complement regulatory protein	MIC11, MIN1, MSK21, MIN2, MIN3	NA	7691713	Standard	NM_203329	NM_001127223	NA	Approved	16.3A5, EJ16, EJ30, EL32, G344, p18-20	uc001mus.4	P13987		ENST00000533403.1:c.74G>T	11.37:g.33739011C>A	ENSP00000436737:p.Ser25Ile	NA		37		.	.	.	.	.	.	.	.	.	.	C	16.94	3.259715	0.59321	.	.	ENSG00000085063	ENST00000534312;ENST00000527926;ENST00000395850;ENST00000533403;ENST00000351554;ENST00000415002;ENST00000445143;ENST00000426650;ENST00000437761;ENST00000527577;ENST00000528700	D;D;D	0.94650	-3.41;-3.48;-1.61	3.99	2.04	0.26737	.	0.707573	0.14322	N	0.326929	D	0.95909	0.8668	M	0.78049	2.395	0.09310	N	1	D;D	0.65815	0.995;0.985	P;P	0.59221	0.854;0.832	D	0.89626	0.3852	10	0.87932	D	0	-1.362	10.224	0.43214	0.0:0.6059:0.3941:0.0	.	25;25	E9PI80;P13987	.;CD59_HUMAN	I	25	ENSP00000432362:S25I;ENSP00000437122:S25I;ENSP00000436737:S25I	ENSP00000340210:S25I	S	-	2	0	CD59	33695587	0.008000	0.16893	0.053000	0.19242	0.344000	0.29017	0.941000	0.29005	0.603000	0.29913	0.561000	0.74099	AGC	CD59-010	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000388810.1		-	ENST00000533403.1	Missense_Mutation	SNP	11 : 33739011 - 33739011 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	127	19
NPC1L1	29881	broad.mit.edu	37	7	44561319	44561319	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44561319G>A	ENST00000289547.4	-	12	3000	c.2945C>T	c.(2944-2946)tCg>tTg	p.S982L	NPC1L1_ENST00000381160.3_Missense_Mutation_p.S982L|NPC1L1_ENST00000546276.1_Missense_Mutation_p.S936L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	982					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	p.S982L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ACTGACGGTCGAGGGGCAGAA	0.587		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)											71	71	71			NA	NA	7		NA											NA				44561319		2203	4300	6503	SO:0001583	missense				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520	29881	29881			7898	protein-coding gene	gene with protein product		608010	NPC1 (Niemann-Pick disease, type C1, gene)-like 1		NA	10783261	Standard	NM_013389	NM_013389	NA	Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.2945C>T	7.37:g.44561319G>A	ENSP00000289547:p.Ser982Leu	NA	A4D2J7|Q6R3Q4|Q9UHC8	37	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439750	0.63067	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	D;D;D	0.93604	-3.13;-3.14;-3.25	5.49	5.49	0.81192	.	0.072905	0.56097	D	0.000026	D	0.93080	0.7797	M	0.67517	2.055	0.48901	D	0.999727	P;P;D	0.64830	0.873;0.95;0.994	B;B;P	0.48840	0.225;0.372;0.592	D	0.91030	0.4863	10	0.11182	T	0.66	-10.3843	16.8538	0.86000	0.0:0.0:1.0:0.0	.	936;982;982	B7ZLE6;Q17RV5;D3DVK9	.;.;.	L	982;982;936	ENSP00000289547:S982L;ENSP00000370552:S982L;ENSP00000438033:S936L	ENSP00000289547:S982L	S	-	2	0	NPC1L1	44527844	1.000000	0.71417	0.949000	0.38748	0.062000	0.15995	8.339000	0.90041	2.586000	0.87340	0.655000	0.94253	TCG	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251256.1		-	ENST00000289547.4	Missense_Mutation	SNP	7 : 44561319 - 44561319 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	410	69
CHDH	55349	broad.mit.edu	37	3	53853618	53853618	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53853618A>C	ENST00000315251.6	-	7	1641	c.1204T>G	c.(1204-1206)Ttc>Gtc	p.F402V		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	NA					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	GATGGCAGGAAATGGAACTGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	74	72			NA	NA	3		NA											NA				53853618		2203	4300	6503	SO:0001583	missense			AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	55349	55349	1.1.99.1		24288	protein-coding gene	gene with protein product					NA		Standard	NM_018397	NM_018397	NA	Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.1204T>G	3.37:g.53853618A>C	ENSP00000319851:p.Phe402Val	NA	Q9NY17	37	CCDS2873.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.744510	0.89663	.	.	ENSG00000016391	ENST00000315251	T	0.46819	0.86	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.67487	0.2898	M	0.84585	2.705	0.80722	D	1	P	0.52316	0.952	P	0.55965	0.788	T	0.74426	-0.3669	10	0.87932	D	0	-31.5137	15.4005	0.74838	1.0:0.0:0.0:0.0	.	402	Q8NE62	CHDH_HUMAN	V	402	ENSP00000319851:F402V	ENSP00000319851:F402V	F	-	1	0	CHDH	53828658	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	8.943000	0.92975	2.063000	0.61619	0.460000	0.39030	TTC	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350567.2		-	ENST00000315251.6	Missense_Mutation	SNP	3 : 53853618 - 53853618 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	400	89
SOGA2	0	broad.mit.edu	37	18	8783729	8783729	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8783729C>T	ENST00000517570.1	+	5	801	c.619C>T	c.(619-621)Ctg>Ttg	p.L207L	SOGA2_ENST00000359865.3_Silent_p.L207L|SOGA2_ENST00000306329.11_Silent_p.L567L|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Silent_p.L207L			Q9Y4B5	CC165_HUMAN		558											NA						GGAGGCCGAGCTGAAGCTGCG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	14	14			NA	NA	18		NA											NA				8783729		2195	4294	6489	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000517570.1:c.619C>T	18.37:g.8783729C>T		NA	E9PAY7|Q6ZMQ9|Q8IWA9	37																																																																																				SOGA2-003	KNOWN	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000379400.2		+	ENST00000517570.1	Silent	SNP	18 : 8783729 - 8783729 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	116	18
PDLIM3	27295	broad.mit.edu	37	4	186456534	186456534	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186456534C>A	ENST00000284770.5	-	1	128	c.55G>T	c.(55-57)Ggg>Tgg	p.G19W	PDLIM3_ENST00000284767.5_Missense_Mutation_p.G19W|PDLIM3_ENST00000284771.6_Missense_Mutation_p.G19W	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	19	PDZ.					sarcomere	zinc ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		TCTATGCCCCCTGAGAGCCTG	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	45	44			NA	NA	4		NA											NA				186456534		2203	4300	6503	SO:0001583	missense			AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553	27295	27295			20767	protein-coding gene	gene with protein product		605889			NA	10063829, 8828038	Standard	NM_014476	NM_014476	NA	Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.55G>T	4.37:g.186456534C>A	ENSP00000284770:p.Gly19Trp	NA	B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	37	CCDS3844.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833022	0.91036	.	.	ENSG00000154553	ENST00000284770;ENST00000284771;ENST00000284767	T;T;T	0.34072	1.38;1.38;1.38	5.56	5.56	0.83823	PDZ/DHR/GLGF (4);	0.098086	0.64402	D	0.000001	T	0.72391	0.3454	H	0.94964	3.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.997	T	0.80670	-0.1279	10	0.87932	D	0	-14.7514	19.1243	0.93376	0.0:1.0:0.0:0.0	.	19;19;19	Q53GG5-3;Q53GG5-2;Q53GG5	.;.;PDLI3_HUMAN	W	19	ENSP00000284770:G19W;ENSP00000284771:G19W;ENSP00000284767:G19W	ENSP00000284767:G19W	G	-	1	0	PDLIM3	186693528	1.000000	0.71417	0.977000	0.42913	0.912000	0.54170	6.262000	0.72514	2.619000	0.88677	0.555000	0.69702	GGG	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360499.2		-	ENST00000284770.5	Missense_Mutation	SNP	4 : 186456534 - 186456534 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	112	20
LIMA1	51474	broad.mit.edu	37	12	50575758	50575758	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50575758C>T	ENST00000547825.1	-	4	1566	c.297G>A	c.(295-297)gaG>gaA	p.E99E	LIMA1_ENST00000341247.4_Silent_p.E401E|LIMA1_ENST00000552909.1_Silent_p.E240E|LIMA1_ENST00000552491.1_Silent_p.E98E|LIMA1_ENST00000552783.1_Silent_p.E242E|LIMA1_ENST00000394943.3_Silent_p.E402E|LIMA1_ENST00000552823.1_Silent_p.E241E	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	401					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CCAAGAGACGCTCCATTGGAT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	97	100			NA	NA	12		NA											NA				50575758		2203	4300	6503	SO:0001819	synonymous_variant			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405	51474	51474			24636	protein-coding gene	gene with protein product	epithelial protein lost in neoplasm beta	608364			NA	10806352, 10618726, 12566430	Standard	NM_016357	NM_016357	NA	Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000547825.1:c.297G>A	12.37:g.50575758C>T		NA	B2RB09|Q2TAN7|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	37	CCDS58230.1																																																																																			LIMA1-007	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406410.1		-	ENST00000547825.1	Silent	SNP	12 : 50575758 - 50575758 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	381	28
REPIN1	29803	broad.mit.edu	37	7	150068940	150068940	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150068940C>A	ENST00000425389.2	+	1	688	c.610C>A	c.(610-612)Ctg>Atg	p.L204M	REPIN1_ENST00000540729.1_Missense_Mutation_p.L204M|REPIN1_ENST00000444957.1_Missense_Mutation_p.L204M|REPIN1_ENST00000397281.2_Missense_Mutation_p.L204M|REPIN1_ENST00000466559.1_3'UTR|REPIN1_ENST00000479668.1_3'UTR|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000489432.2_Missense_Mutation_p.L261M	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	204					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			AGCTGAGGCCCTGGAGGAGGC	0.741		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													8	10	9			NA	NA	7		NA											NA				150068940		1812	4036	5848	SO:0001583	missense			AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08			29803	29803		Zinc fingers, C2H2-type	17922	protein-coding gene	gene with protein product	replication initiation region protein (60kD), zinc finger protein AP4, zinc finger protein 464 (RIP60)		zinc finger protein 464 (RIP60)	ZNF464	NA	10606657	Standard	NM_014374	NM_013400	NA	Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.610C>A	7.37:g.150068940C>A	ENSP00000388287:p.Leu204Met	NA	D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	37	CCDS43677.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.919909	0.33908	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000475514;ENST00000488943;ENST00000425389	T;T;T;T;T;T;T	0.08720	3.09;3.09;3.09;3.06;3.4;3.2;3.09	5.08	2.25	0.28309	Zinc finger, C2H2 (1);	.	.	.	.	T	0.10465	0.0256	N	0.08118	0	0.09310	N	0.999994	D;D	0.65815	0.995;0.995	D;D	0.72982	0.979;0.979	T	0.23691	-1.0181	9	0.87932	D	0	-10.3479	5.9616	0.19303	0.0:0.6793:0.0:0.3207	.	261;204	C9J3L7;Q9BWE0	.;REPI1_HUMAN	M	204;204;204;261;263;264;204	ENSP00000445016:L204M;ENSP00000380451:L204M;ENSP00000407714:L204M;ENSP00000417291:L261M;ENSP00000419789:L263M;ENSP00000419872:L264M;ENSP00000388287:L204M	ENSP00000380451:L204M	L	+	1	2	REPIN1	149699873	.	.	0.962000	0.40283	0.697000	0.40408	.	.	0.521000	0.28445	0.462000	0.41574	CTG	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376940.1		+	ENST00000425389.2	Missense_Mutation	SNP	7 : 150068940 - 150068940 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	104	21
ASIC4	55515	broad.mit.edu	37	2	220379804	220379804	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220379804A>G	ENST00000358078.4	+	1	753	c.739A>G	c.(739-741)Atc>Gtc	p.I247V	ASIC4_ENST00000347842.3_Missense_Mutation_p.I247V|AC053503.11_ENST00000429882.1_RNA			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	247						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity				NA						CCTCTGCAATATCAACCGCTT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	30	30			NA	NA	2		NA											NA				220379804		2203	4300	6503	SO:0001583	missense			AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182	55515	55515		Ion channels / Acid-sensing (proton-gated) ion channels	21263	protein-coding gene	gene with protein product		606715	amiloride-sensitive cation channel 4, pituitary, amiloride-sensitive cation channel family member 4, pituitary	ACCN4	NA	10852210	Standard	NM_018674	NM_182847	NA	Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000358078.4:c.739A>G	2.37:g.220379804A>G	ENSP00000350786:p.Ile247Val	NA	Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	37		.	.	.	.	.	.	.	.	.	.	A	11.40	1.627432	0.28978	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.62788	0.0;0.0	4.69	4.69	0.59074	.	0.133241	0.49916	D	0.000138	T	0.44912	0.1316	N	0.20807	0.61	0.41643	D	0.989084	B;B;B	0.28026	0.129;0.198;0.106	B;B;B	0.29862	0.07;0.108;0.042	T	0.40683	-0.9550	10	0.30078	T	0.28	-18.4194	9.428	0.38592	0.8414:0.0:0.0:0.1585	.	247;247;247	Q96FT7;Q96FT7-4;Q96FT7-2	ACCN4_HUMAN;.;.	V	247	ENSP00000326627:I247V;ENSP00000350786:I247V	ENSP00000326627:I247V	I	+	1	0	ACCN4	220088048	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.492000	0.53259	1.969000	0.57287	0.533000	0.62120	ATC	ASIC4-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000130266.1		+	ENST00000358078.4	Missense_Mutation	SNP	2 : 220379804 - 220379804 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	394	22
TARDBP	23435	broad.mit.edu	37	1	11082189	11082189	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11082189G>A	ENST00000240185.3	+	6	837	c.723G>A	c.(721-723)caG>caA	p.Q241Q	TARDBP_ENST00000439080.2_Silent_p.Q125Q|TARDBP_ENST00000315091.3_Silent_p.Q241Q	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	241	RRM 2.				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		AGATTGCGCAGTCTCTTTGTG	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	79	80			NA	NA	1		NA											NA				11082189		2203	4300	6503	SO:0001819	synonymous_variant			U23731	CCDS122.1	1p36.22	2014-09-17			ENSG00000120948	ENSG00000120948	23435	23435		RNA binding motif (RRM) containing	11571	protein-coding gene	gene with protein product		605078			NA	7745706	Standard	NM_007375	NM_007375	NA	Approved	TDP-43, ALS10	uc001art.3	Q13148	OTTHUMG00000002120	ENST00000240185.3:c.723G>A	1.37:g.11082189G>A		NA	A4GUK4|A4GUK5|A4GUK6|B2R629|E2PU12|Q53H27|Q6FI92|Q96DJ0	37	CCDS122.1																																																																																			TARDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006063.1		+	ENST00000240185.3	Silent	SNP	1 : 11082189 - 11082189 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	384	39
USP6NL	9712	broad.mit.edu	37	10	11523859	11523859	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11523859C>T	ENST00000609104.1	-	14	1382	c.988G>A	c.(988-990)Gat>Aat	p.D330N	USP6NL_ENST00000277575.5_Missense_Mutation_p.D347N|USP6NL_ENST00000379237.2_Missense_Mutation_p.D353N	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	NA						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						AAGAAAAAATCCTTTGCCAGG	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	42	43			NA	NA	10		NA											NA				11523859		1793	4062	5855	SO:0001583	missense			BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429	9712	9712			16858	protein-coding gene	gene with protein product	related to the N terminus of tre	605405	USP6NL intronic transcript 1 (non-protein coding)	USP6NL-IT1	NA	8700515, 8700527, 12399475	Standard	NM_014688	XR_247492	NA	Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.988G>A	10.37:g.11523859C>T	ENSP00000476462:p.Asp330Asn	NA	A8KA79|Q15400|Q5VV10|Q7L0K9	37	CCDS53492.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104746	0.56291	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.22336	1.96;1.96	5.55	3.65	0.41850	Rab-GAP/TBC domain (1);	0.215793	0.48286	N	0.000186	T	0.17238	0.0414	L	0.37800	1.135	0.58432	D	0.999999	P;P	0.37824	0.609;0.537	B;B	0.36186	0.17;0.219	T	0.02156	-1.1204	10	0.49607	T	0.09	.	11.8328	0.52305	0.0:0.8678:0.0:0.1322	.	330;347	Q92738;Q92738-2	US6NL_HUMAN;.	N	330;347;330	ENSP00000277575:D347N;ENSP00000368539:D330N	ENSP00000277575:D347N	D	-	1	0	USP6NL	11563865	0.995000	0.38212	0.992000	0.48379	0.988000	0.76386	1.455000	0.35190	0.654000	0.30846	0.591000	0.81541	GAT	USP6NL-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046764.3		-	ENST00000609104.1	Missense_Mutation	SNP	10 : 11523859 - 11523859 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	121	16
MATN2	4147	broad.mit.edu	37	8	99030295	99030295	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99030295C>T	ENST00000521689.1	+	12	2244	c.1770C>T	c.(1768-1770)tgC>tgT	p.C590C	MATN2_ENST00000524308.1_Silent_p.C549C|MATN2_ENST00000520016.1_Silent_p.C590C|MATN2_ENST00000522025.2_Silent_p.C306C|MATN2_ENST00000254898.5_Silent_p.C590C			O00339	MATN2_HUMAN	matrilin 2	590	EGF-like 9.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CATACACGTGCGAGTGCTTGG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	0,4174		0,0,2087	212	219	217		1770,1770	5.2	1	8		217	1,8435		0,1,4217	no	coding-synonymous,coding-synonymous	MATN2	NM_002380.3,NM_030583.2	,	0,1,6304	TT,TC,CC	NA	0.0119,0.0,0.0079	,	590/957,590/938	99030295	1,12609	2087	4218	6305	SO:0001819	synonymous_variant			U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15					4147	4147			6908	protein-coding gene	gene with protein product		602108			NA	9083061, 11852232	Standard		XM_005250920	NA	Approved		uc003yic.3	O00339		ENST00000521689.1:c.1770C>T	8.37:g.99030295C>T		NA	A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	37	CCDS55265.1	.	.	.	.	.	.	.	.	.	.	C	1.490	-0.554985	0.03967	0.0	1.19E-4	ENSG00000132561	ENST00000518154;ENST00000517321	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.2589	12.2666	0.54681	0.0:0.9233:0.0:0.0767	.	.	.	.	X	373;65	.	.	R	+	1	2	MATN2	99099471	0.093000	0.21703	1.000000	0.80357	0.014000	0.08584	0.633000	0.24598	2.691000	0.91804	0.655000	0.94253	CGA	MATN2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380327.1		+	ENST00000521689.1	Silent	SNP	8 : 99030295 - 99030295 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1027	190
PNCK	139728	broad.mit.edu	37	X	152937358	152937358	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:152937358C>T	ENST00000393831.2	-	5	825	c.391G>A	c.(391-393)Ggg>Agg	p.G131R	PNCK_ENST00000340888.3_Missense_Mutation_p.G131R|PNCK_ENST00000370150.1_Missense_Mutation_p.G131R|PNCK_ENST00000447676.2_Missense_Mutation_p.G214R|PNCK_ENST00000370142.1_Missense_Mutation_p.G131R|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000370145.4_Missense_Mutation_p.G148R	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	131	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCACGATCCCCAGGCTGTGC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	24	25			NA	NA	X		NA											NA				152937358		2202	4296	6498	SO:0001583	missense			BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822	139728	139728			13415	protein-coding gene	gene with protein product		300680	pregnancy upregulated non-ubiquitously expressed CaM kinase, pregnancy up-regulated non-ubiquitously expressed CaM kinase		NA	12477932	Standard	NM_198452	NM_001039582	NA	Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000393831.2:c.391G>A	X.37:g.152937358C>T	ENSP00000377417:p.Gly131Arg	NA	B4DJR8|B7WPG0|D3DWU7|Q8N4R0	37		.	.	.	.	.	.	.	.	.	.	c	23.7	4.445474	0.84101	.	.	ENSG00000130822	ENST00000340888;ENST00000370150;ENST00000393831;ENST00000370142;ENST00000370145;ENST00000447676;ENST00000439087;ENST00000422811	T;T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57	5.01	5.01	0.66863	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.101495	0.40554	N	0.001067	T	0.50735	0.1633	L	0.50919	1.6	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.989;0.989;0.989	T	0.53251	-0.8465	10	0.72032	D	0.01	-29.6904	16.1385	0.81506	0.0:1.0:0.0:0.0	.	158;214;148;131	B4DJG4;Q6P2M8-5;B4E1A6;Q6P2M8	.;.;.;KCC1B_HUMAN	R	131;131;131;131;148;214;131;131	ENSP00000340586:G131R;ENSP00000359169:G131R;ENSP00000377417:G131R;ENSP00000359161:G131R;ENSP00000359164:G148R;ENSP00000405950:G214R;ENSP00000415770:G131R;ENSP00000391772:G131R	ENSP00000340586:G131R	G	-	1	0	PNCK	152590552	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	7.744000	0.85034	2.060000	0.61445	0.529000	0.55759	GGG	PNCK-201	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000061045.2		-	ENST00000393831.2	Missense_Mutation	SNP	X : 152937358 - 152937358 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	104	24
CTTNBP2	83992	broad.mit.edu	37	7	117361139	117361139	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117361139G>A	ENST00000160373.3	-	20	4584	c.4493C>T	c.(4492-4494)gCt>gTt	p.A1498V		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1498										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGACAGAGAAGCATTCCTGTT	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	163	164			NA	NA	7		NA											NA				117361139		2202	4299	6501	SO:0001583	missense				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063	83992	83992		Ankyrin repeat domain containing	15679	protein-coding gene	gene with protein product		609772	cortactin binding protein 2	CORTBP2, C7orf8	NA	11707066	Standard	NM_033427	XM_005250635	NA	Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.4493C>T	7.37:g.117361139G>A	ENSP00000160373:p.Ala1498Val	NA	O43389|Q7LG11|Q9C0A5	37	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.963163	0.34659	.	.	ENSG00000077063	ENST00000160373	T	0.66460	-0.21	5.21	4.33	0.51752	.	0.621908	0.16066	N	0.231236	T	0.62660	0.2446	M	0.64404	1.975	0.22500	N	0.999042	B	0.23937	0.094	B	0.16289	0.015	T	0.54990	-0.8210	10	0.41790	T	0.15	-0.4606	12.1834	0.54223	0.0795:0.0:0.9205:0.0	.	1498	Q8WZ74	CTTB2_HUMAN	V	1498	ENSP00000160373:A1498V	ENSP00000160373:A1498V	A	-	2	0	CTTNBP2	117148375	0.898000	0.30612	0.632000	0.29296	0.706000	0.40770	2.807000	0.47955	1.306000	0.44926	0.644000	0.83932	GCT	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059201.4		-	ENST00000160373.3	Missense_Mutation	SNP	7 : 117361139 - 117361139 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	518	69
MITD1	129531	broad.mit.edu	37	2	99786049	99786049	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99786049C>A	ENST00000289359.2	-	6	694	c.618G>T	c.(616-618)aaG>aaT	p.K206N	MRPL30_ENST00000410042.1_Intron	NM_138798.1	NP_620153.1	Q8WV92	MITD1_HUMAN	MIT, microtubule interacting and transport, domain containing 1	206					protein transport	late endosome membrane				large_intestine(3)|lung(2)|ovary(1)	6						CCCTTCCAATCTTAATCATCC	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	70	69			NA	NA	2		NA											NA				99786049		2203	4292	6495	SO:0001583	missense			BC018453	CCDS2040.1	2q11.2	2006-07-14			ENSG00000158411	ENSG00000158411	129531	129531			25207	protein-coding gene	gene with protein product					NA	16730941	Standard	NM_138798	NM_138798	NA	Approved	LOC129531	uc002szs.1	Q8WV92	OTTHUMG00000130638	ENST00000289359.2:c.618G>T	2.37:g.99786049C>A	ENSP00000289359:p.Lys206Asn	NA	Q69YV0	37	CCDS2040.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852900	0.71719	.	.	ENSG00000158411	ENST00000422537;ENST00000289359;ENST00000409107	T;T	0.53640	0.61;0.64	5.64	2.41	0.29592	.	0.188632	0.53938	D	0.000050	T	0.68458	0.3003	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.68157	-0.5483	10	0.54805	T	0.06	-6.5332	8.9691	0.35894	0.0:0.7264:0.0:0.2736	.	206	Q8WV92	MITD1_HUMAN	N	188;206;177	ENSP00000289359:K206N;ENSP00000387316:K177N	ENSP00000289359:K206N	K	-	3	2	MITD1	99152481	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	0.449000	0.21744	0.297000	0.22615	0.650000	0.86243	AAG	MITD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253126.1		-	ENST00000289359.2	Missense_Mutation	SNP	2 : 99786049 - 99786049 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	496	109
OR2A2	442361	broad.mit.edu	37	7	143806742	143806742	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143806742G>A	ENST00000408979.2	+	1	136	c.67G>A	c.(67-69)Gcg>Acg	p.A23T		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TCCAGCACTGGCGATTCTCCT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	137	138			NA	NA	7		NA											NA				143806742		2003	4194	6197	SO:0001583	missense				CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989	442361	442361		GPCR / Class A : Olfactory receptors	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P	NA		Standard		NM_001005480	NA	Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.67G>A	7.37:g.143806742G>A	ENSP00000386209:p.Ala23Thr	NA	B2RN85|Q8NGT6	37	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.513049	0.27123	.	.	ENSG00000221989	ENST00000408979	T	0.00438	7.42	3.5	1.64	0.23874	.	.	.	.	.	T	0.00210	0.0006	N	0.14661	0.345	0.19575	N	0.999961	B	0.02656	0.0	B	0.04013	0.001	T	0.43196	-0.9406	9	0.66056	D	0.02	.	3.436	0.07446	0.2475:0.2198:0.5326:0.0	.	23	Q6IF42	OR2A2_HUMAN	T	23	ENSP00000386209:A23T	ENSP00000386209:A23T	A	+	1	0	OR2A2	143437675	0.000000	0.05858	0.050000	0.19076	0.033000	0.12548	-0.007000	0.12810	0.802000	0.34089	0.609000	0.83330	GCG	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349978.1		+	ENST00000408979.2	Missense_Mutation	SNP	7 : 143806742 - 143806742 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	577	85
HOXA3	3200	broad.mit.edu	37	7	27147987	27147987	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27147987C>T	ENST00000396352.4	-	3	1078	c.879G>A	c.(877-879)tcG>tcA	p.S293S	HOXA3_ENST00000317201.2_Silent_p.S293S|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	293					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						AGGGCGGGGGCGACTGGGGCT	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(136;1368 1743 5685 7935 50360)							NA				0													29	35	33			NA	NA	7		NA											NA				27147987		2202	4298	6500	SO:0001819	synonymous_variant				CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997	3200	3200		Homeoboxes / ANTP class : HOXL subclass	5104	protein-coding gene	gene with protein product		142954	homeo box A3	HOX1E, HOX1	NA	1973146, 1358459	Standard		XM_005249730	NA	Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.879G>A	7.37:g.27147987C>T		NA	A4D181	37	CCDS5404.1																																																																																			HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358708.2		-	ENST00000396352.4	Silent	SNP	7 : 27147987 - 27147987 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	381	75
CENPL	91687	broad.mit.edu	37	1	173772420	173772420	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173772420G>A	ENST00000356198.2	-	6	1067	c.782C>T	c.(781-783)gCa>gTa	p.A261V	CENPL_ENST00000345664.6_Missense_Mutation_p.A215V|CENPL_ENST00000367710.3_Missense_Mutation_p.A215V	NM_001127181.2	NP_001120653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	215					mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						AAGATTAAATGCATTGATTGC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	119	117			NA	NA	1		NA											NA				173772420		2203	4300	6503	SO:0001583	missense			BC033154, BC019022, AK055606	CCDS30938.1, CCDS44277.1	1q25.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000120334	ENSG00000120334	91687	91687			17879	protein-coding gene	gene with protein product		611503	chromosome 1 open reading frame 155	C1orf155	NA	16622420, 16622419	Standard	NM_033319	NM_033319	NA	Approved	dJ383J4.3, FLJ31044	uc001gje.4	Q8N0S6	OTTHUMG00000034802	ENST00000356198.2:c.782C>T	1.37:g.173772420G>A	ENSP00000348527:p.Ala261Val	NA	Q5TEL5|Q96ND4	37	CCDS44277.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856235	0.71834	.	.	ENSG00000120334	ENST00000356198;ENST00000345664;ENST00000367710	T;T;T	0.48522	1.42;0.81;0.81	5.03	4.12	0.48240	.	0.193605	0.45867	D	0.000323	T	0.38532	0.1044	L	0.36672	1.1	0.31499	N	0.665073	D;B	0.60575	0.988;0.004	P;B	0.58721	0.844;0.012	T	0.31475	-0.9942	10	0.45353	T	0.12	.	12.5652	0.56306	0.082:0.0:0.918:0.0	.	261;215	Q8N0S6-2;Q8N0S6	.;CENPL_HUMAN	V	261;215;215	ENSP00000348527:A261V;ENSP00000323543:A215V;ENSP00000356683:A215V	ENSP00000323543:A215V	A	-	2	0	CENPL	172039043	1.000000	0.71417	0.826000	0.32828	0.989000	0.77384	6.614000	0.74197	1.124000	0.41980	0.655000	0.94253	GCA	CENPL-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084211.1		-	ENST00000356198.2	Missense_Mutation	SNP	1 : 173772420 - 173772420 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	677	102
PLCB3	5331	broad.mit.edu	37	11	64022436	64022436	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64022436A>G	ENST00000540288.1	+	4	416	c.313A>G	c.(313-315)Acg>Gcg	p.T105A	PLCB3_ENST00000279230.6_Missense_Mutation_p.T105A|PLCB3_ENST00000325234.5_Missense_Mutation_p.T38A	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	105					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GAAGCTGATGACGGTGGTGTC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	63	64			NA	NA	11		NA											NA				64022436		2201	4297	6498	SO:0001583	missense			Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	5331	5331	3.1.4.11		9056	protein-coding gene	gene with protein product		600230			NA	7849701	Standard		NM_000932	NA	Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.313A>G	11.37:g.64022436A>G	ENSP00000443631:p.Thr105Ala	NA	A5PKZ6	37	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	a	15.77	2.930752	0.52866	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.52983	0.64;0.64;0.64	4.67	4.67	0.58626	.	0.053649	0.64402	D	0.000001	T	0.70780	0.3263	M	0.85462	2.755	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.97	T	0.76680	-0.2870	10	0.87932	D	0	.	13.4244	0.61018	1.0:0.0:0.0:0.0	.	38;105	G5E960;Q01970	.;PLCB3_HUMAN	A	105;105;38	ENSP00000279230:T105A;ENSP00000443631:T105A;ENSP00000324660:T38A	ENSP00000279230:T105A	T	+	1	0	PLCB3	63779012	1.000000	0.71417	0.974000	0.42286	0.100000	0.18952	8.999000	0.93557	1.885000	0.54596	0.454000	0.30748	ACG	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396405.1		+	ENST00000540288.1	Missense_Mutation	SNP	11 : 64022436 - 64022436 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	219	39
ZNF692	55657	broad.mit.edu	37	1	249151671	249151671	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:249151671A>G	ENST00000451251.1	-	4	597	c.252T>C	c.(250-252)ggT>ggC	p.G84G	ZNF692_ENST00000306601.4_Silent_p.G79G|ZNF692_ENST00000366469.5_Silent_p.G79G|ZNF692_ENST00000366471.3_Silent_p.G79G|ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000427146.1_Silent_p.G79G	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	zinc finger protein 692	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GATACTGCAGACCTTTTGGAG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	42	41			NA	NA	1		NA											NA				249151671		2203	4300	6503	SO:0001819	synonymous_variant			BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163	55657	55657		Zinc fingers, C2H2-type	26049	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_017865	NM_001136036	NA	Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000451251.1:c.252T>C	1.37:g.249151671A>G		NA	Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	37	CCDS44348.1																																																																																			ZNF692-021	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382597.1		-	ENST00000451251.1	Silent	SNP	1 : 249151671 - 249151671 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	413	11
ITPRIP	85450	broad.mit.edu	37	10	106075652	106075652	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106075652A>G	ENST00000337478.1	-	2	329	c.158T>C	c.(157-159)tTg>tCg	p.L53S	ITPRIP_ENST00000358187.2_Missense_Mutation_p.L53S|ITPRIP_ENST00000278071.2_Missense_Mutation_p.L53S	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	53						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CTCCAGGCGCAACTGCTCCAG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	71	71			NA	NA	10		NA											NA				106075652		2203	4300	6503	SO:0001583	missense			AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841	85450	85450			29370	protein-coding gene	gene with protein product			KIAA1754, inositol 1,4,5-triphosphate receptor interacting protein	KIAA1754	NA	11214970, 16990268	Standard	NM_033397	NM_001272012	NA	Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.158T>C	10.37:g.106075652A>G	ENSP00000337178:p.Leu53Ser	NA	D3DRA5|Q5JU17|Q96MS8|Q9C0A9	37	CCDS7557.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.928157	0.52759	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187;ENST00000458723	T;T;T;T	0.11712	2.75;2.75;2.75;2.75	5.68	5.68	0.88126	.	0.321554	0.30051	N	0.010532	T	0.17619	0.0423	L	0.27053	0.805	0.26231	N	0.97902	D	0.63880	0.993	P	0.56216	0.794	T	0.03555	-1.1025	10	0.72032	D	0.01	-14.6649	15.9181	0.79539	1.0:0.0:0.0:0.0	.	53	Q8IWB1	IPRI_HUMAN	S	53	ENSP00000337178:L53S;ENSP00000278071:L53S;ENSP00000350915:L53S;ENSP00000414141:L53S	ENSP00000278071:L53S	L	-	2	0	ITPRIP	106065642	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.626000	0.67777	2.161000	0.67846	0.460000	0.39030	TTG	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050204.1		-	ENST00000337478.1	Missense_Mutation	SNP	10 : 106075652 - 106075652 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	781	140
UBA7	7318	broad.mit.edu	37	3	49847305	49847305	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49847305C>T	ENST00000333486.3	-	15	2005	c.1847G>A	c.(1846-1848)cGg>cAg	p.R616Q		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	616					ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AAACTCATGCCGGGCCCACTG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	97	95			NA	NA	3		NA											NA				49847305		2203	4300	6503	SO:0001583	missense			BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179	7318	7318		Ubiquitin-like modifier activating enzymes	12471	protein-coding gene	gene with protein product	UBA1, ubiquitin-activating enzyme E1 homolog B (yeast), UBA7, ubiquitin-activating enzyme E1	191325	ubiquitin-activating enzyme E1-like	UBE1L	NA	8327486	Standard	NM_003335	NM_003335	NA	Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.1847G>A	3.37:g.49847305C>T	ENSP00000333266:p.Arg616Gln	NA	Q9BRB2	37	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510430	0.85389	.	.	ENSG00000182179	ENST00000333486	T	0.48522	0.81	6.07	-0.683	0.11335	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-activating enzyme (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.301816	0.35525	N	0.003148	T	0.46054	0.1373	L	0.60012	1.86	0.48288	D	0.999623	D	0.59357	0.985	P	0.54499	0.754	T	0.44982	-0.9292	10	0.62326	D	0.03	-12.0257	1.5695	0.02612	0.2615:0.432:0.1277:0.1789	.	616	P41226	UBA7_HUMAN	Q	616	ENSP00000333266:R616Q	ENSP00000333266:R616Q	R	-	2	0	UBA7	49822309	0.565000	0.26610	0.100000	0.21137	0.938000	0.57974	1.465000	0.35299	0.201000	0.20466	0.655000	0.94253	CGG	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350503.1		-	ENST00000333486.3	Missense_Mutation	SNP	3 : 49847305 - 49847305 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	643	72
SHROOM3	57619	broad.mit.edu	37	4	77661560	77661560	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77661560C>T	ENST00000296043.6	+	5	3187	c.2234C>T	c.(2233-2235)cCg>cTg	p.P745L		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	745					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCCGAAGAGCCGCCTGCCCCC	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	20	18			NA	NA	4		NA											NA				77661560		2188	4281	6469	SO:0001583	missense			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771	57619	57619			30422	protein-coding gene	gene with protein product		604570			NA	10589677, 16615870	Standard	NM_020859	NM_020859	NA	Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.2234C>T	4.37:g.77661560C>T	ENSP00000296043:p.Pro745Leu	NA	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	37	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	c	1.467	-0.560874	0.03939	.	.	ENSG00000138771	ENST00000296043	T	0.30981	1.51	4.93	1.23	0.21249	.	1.031020	0.07679	N	0.936730	T	0.27900	0.0687	L	0.48362	1.52	0.09310	N	1	B;B;B	0.22211	0.066;0.066;0.066	B;B;B	0.14023	0.006;0.01;0.01	T	0.30327	-0.9982	10	0.23302	T	0.38	-2.7222	12.1817	0.54216	0.0:0.6199:0.0:0.3801	.	569;745;523	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	L	745	ENSP00000296043:P745L	ENSP00000296043:P745L	P	+	2	0	SHROOM3	77880584	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	0.382000	0.20635	-0.120000	0.11809	-2.041000	0.00417	CCG	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252408.2		+	ENST00000296043.6	Missense_Mutation	SNP	4 : 77661560 - 77661560 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	338	30
POLR1B	84172	broad.mit.edu	37	2	113309541	113309541	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113309541T>C	ENST00000417433.2	+	5	814	c.784T>C	c.(784-786)Tac>Cac	p.Y262H	POLR1B_ENST00000263331.5_Missense_Mutation_p.Y318H|POLR1B_ENST00000537335.1_Missense_Mutation_p.Y107H|POLR1B_ENST00000409894.3_Missense_Mutation_p.Y318H|POLR1B_ENST00000541869.1_Missense_Mutation_p.Y356H	NM_001137604.1	NP_001131076.1	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	318					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TCCTGACTGGTACCCAAATGA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(16;256 576 9537 23969 41147)							NA				0													140	134	136			NA	NA	2		NA											NA				113309541		2203	4300	6503	SO:0001583	missense			AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630	84172	84172		RNA polymerase subunits	20454	protein-coding gene	gene with protein product		602000			NA		Standard	NM_019014	NM_001137604	NA	Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000417433.2:c.784T>C	2.37:g.113309541T>C	ENSP00000405358:p.Tyr262His	NA	Q585T5|Q6ZRR2|Q9H9D3	37	CCDS46395.1	.	.	.	.	.	.	.	.	.	.	T	16.23	3.065246	0.55432	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000537335;ENST00000417433	T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02	5.03	5.03	0.67393	RNA polymerase, beta subunit, protrusion (1);RNA polymerase Rpb2, domain 2 (1);	0.178498	0.51477	D	0.000095	T	0.75583	0.3869	M	0.74258	2.255	0.51482	D	0.999925	P;D;B;P	0.76494	0.51;0.999;0.058;0.566	B;D;B;B	0.72982	0.149;0.979;0.086;0.315	T	0.72981	-0.4126	10	0.16420	T	0.52	-10.5154	14.0384	0.64660	0.0:0.0:0.0:1.0	.	356;318;262;318	F5GZX4;F8W898;Q9H9Y6-2;Q9H9Y6	.;.;.;RPA2_HUMAN	H	318;356;318;107;262	ENSP00000263331:Y318H;ENSP00000444136:Y356H;ENSP00000387143:Y318H;ENSP00000437914:Y107H;ENSP00000405358:Y262H	ENSP00000263331:Y318H	Y	+	1	0	POLR1B	113026012	1.000000	0.71417	0.975000	0.42487	0.993000	0.82548	6.223000	0.72257	2.025000	0.59659	0.482000	0.46254	TAC	POLR1B-005	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330626.1		+	ENST00000417433.2	Missense_Mutation	SNP	2 : 113309541 - 113309541 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	496	123
DYNC1H1	1778	broad.mit.edu	37	14	102493837	102493837	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102493837T>C	ENST00000360184.4	+	46	9168	c.9004T>C	c.(9004-9006)Tct>Cct	p.S3002P		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3002	AAA 4 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGTGTTAGATTCTGGATTCCT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	115	116			NA	NA	14		NA											NA				102493837		2203	4300	6503	SO:0001583	missense			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102	1778	1778		Cytoplasmic dyneins	2961	protein-coding gene	gene with protein product		600112	dynein, cytoplasmic, heavy polypeptide 1	DNECL, DNCL, DNCH1	NA	16260502, 8666668	Standard	NM_001376	NM_001376	NA	Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.9004T>C	14.37:g.102493837T>C	ENSP00000348965:p.Ser3002Pro	NA	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	T	18.58	3.653962	0.67472	.	.	ENSG00000197102	ENST00000360184	T	0.43294	0.95	5.7	5.7	0.88788	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.120080	0.64402	D	0.000015	T	0.50922	0.1644	L	0.39085	1.19	0.80722	D	1	D	0.53462	0.96	P	0.58077	0.832	T	0.49978	-0.8881	10	0.51188	T	0.08	.	15.961	0.79930	0.0:0.0:0.0:1.0	.	3002	Q14204	DYHC1_HUMAN	P	3002	ENSP00000348965:S3002P	ENSP00000348965:S3002P	S	+	1	0	DYNC1H1	101563590	1.000000	0.71417	0.899000	0.35326	0.951000	0.60555	7.755000	0.85180	2.168000	0.68352	0.491000	0.48974	TCT	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414574.1		+	ENST00000360184.4	Missense_Mutation	SNP	14 : 102493837 - 102493837 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	666	118
KIAA1549L	25758	broad.mit.edu	37	11	33689517	33689517	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33689517G>A	ENST00000321505.4	+	20	5547	c.5367G>A	c.(5365-5367)ctG>ctA	p.L1789L	KIAA1549L_ENST00000389726.3_Silent_p.L1795L|RP4-541C22.5_ENST00000534431.1_RNA					KIAA1549-like	NA											NA						CAGCCAACCTGCACCCCAGCC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	34	32			NA	NA	11		NA											NA				33689517		2028	4182	6210	SO:0001819	synonymous_variant			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427	25758	25758			24836	protein-coding gene	gene with protein product		612297	chromosome 11 open reading frame 69, chromosome 11 open reading frame 41	C11orf69, C11orf41	NA		Standard	NM_012194	NM_012194	NA	Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.5367G>A	11.37:g.33689517G>A		NA		37	CCDS44565.2																																																																																			KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317998.1		+	ENST00000321505.4	Silent	SNP	11 : 33689517 - 33689517 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	240	55
SH3BP4	23677	broad.mit.edu	37	2	235961352	235961352	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:235961352C>T	ENST00000409212.1	+	5	3132	c.2625C>T	c.(2623-2625)taC>taT	p.Y875Y	SH3BP4_ENST00000344528.4_Silent_p.Y875Y|SH3BP4_ENST00000392011.2_Silent_p.Y875Y			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	875					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TGGACGCCTACGAGTCTCCCC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	31	33			NA	NA	2		NA											NA				235961352		2203	4299	6502	SO:0001819	synonymous_variant			AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147	23677	23677			10826	protein-coding gene	gene with protein product		605611			NA	10644451	Standard		NM_014521	NA	Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.2625C>T	2.37:g.235961352C>T		NA	O95082|Q309A3|Q53QD0|Q53TD1	37	CCDS2513.1																																																																																			SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329763.1		+	ENST00000409212.1	Silent	SNP	2 : 235961352 - 235961352 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	85	11
PRG4	10216	broad.mit.edu	37	1	186277192	186277192	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186277192A>C	ENST00000445192.2	+	7	2386	c.2341A>C	c.(2341-2343)Act>Cct	p.T781P	PRG4_ENST00000367485.4_Missense_Mutation_p.T688P|PRG4_ENST00000367483.4_Missense_Mutation_p.T740P|PRG4_ENST00000367486.3_Missense_Mutation_p.T738P|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	781	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCCTAAGGGGACTGCTCCAAC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	200	193			NA	NA	1		NA											NA				186277192		2203	4300	6503	SO:0001583	missense			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690	10216	10216			9364	protein-coding gene	gene with protein product	lubricin, megakaryocyte stimulating factor, articular superficial zone protein, Jacobs camptodactyly-arthropathy-pericarditis syndrome, camptodactyly, arthropathy, coxa vara, pericarditis syndrome, bG174L6.2 (MSF: megakaryocyte stimulating factor )	604283	proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)	CACP	NA	10545950, 9920774	Standard	NM_005807	NM_005807	NA	Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2341A>C	1.37:g.186277192A>C	ENSP00000399679:p.Thr781Pro	NA	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	37	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	A	2.321	-0.355653	0.05138	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.05139	3.49;3.6;3.49;3.6	1.98	-3.96	0.04106	.	0.207690	0.23756	N	0.044868	T	0.01320	0.0043	N	0.01188	-0.97	0.09310	N	0.999999	B;B;B;B	0.11235	0.004;0.001;0.001;0.001	B;B;B;B	0.08055	0.003;0.003;0.001;0.003	T	0.35375	-0.9791	9	.	.	.	.	0.9912	0.01457	0.4995:0.1573:0.1362:0.207	.	647;688;781;740	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	P	738;647;740;688;781	ENSP00000356456:T738P;ENSP00000356453:T740P;ENSP00000356455:T688P;ENSP00000399679:T781P	.	T	+	1	0	PRG4	184543815	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-2.259000	0.01178	-1.373000	0.02134	-0.554000	0.04202	ACT	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086346.1		+	ENST00000445192.2	Missense_Mutation	SNP	1 : 186277192 - 186277192 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1343	105
LOXL3	84695	broad.mit.edu	37	2	74762766	74762766	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74762766G>A	ENST00000264094.3	-	8	1436	c.1365C>T	c.(1363-1365)gcC>gcT	p.A455A	LOXL3_ENST00000409986.1_Silent_p.A310A|LOXL3_ENST00000409549.1_Intron|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000393937.2_Silent_p.A310A	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	455	SRCR 4.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						AGGCCACCATGGCCTCCAGGG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	91	87			NA	NA	2		NA											NA				74762766		2203	4300	6503	SO:0001819	synonymous_variant			AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318	84695	84695			13869	protein-coding gene	gene with protein product		607163			NA	11386757	Standard	NM_032603	NM_032603	NA	Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.1365C>T	2.37:g.74762766G>A		NA	D6W5J1|Q96RS1	37	CCDS1953.1																																																																																			LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252215.1		-	ENST00000264094.3	Silent	SNP	2 : 74762766 - 74762766 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1068	322
SCAF1	58506	broad.mit.edu	37	19	50161056	50161056	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50161056G>A	ENST00000360565.3	+	10	3781	c.3657G>A	c.(3655-3657)gaG>gaA	p.E1219E		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1219	Necessary for interaction with the CTD domain of POLR2A.				mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GGGCGGTGGAGGAGGTGAAGC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	56	64			NA	NA	19		NA											NA				50161056		2203	4300	6503	SO:0001819	synonymous_variant			AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461	58506	58506			30403	protein-coding gene	gene with protein product					NA	11461075	Standard	NM_021228	NM_021228	NA	Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.3657G>A	19.37:g.50161056G>A		NA	Q7Z5V7|Q8WVA1|Q9NR59	37	CCDS33074.1																																																																																			SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465764.1		+	ENST00000360565.3	Silent	SNP	19 : 50161056 - 50161056 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	83	12
RNF216	54476	broad.mit.edu	37	7	5754711	5754711	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5754711G>T	ENST00000425013.2	-	11	1859	c.1635C>A	c.(1633-1635)gcC>gcA	p.A545A	RNF216_ENST00000389902.3_Silent_p.A602A	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	545					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CTGCCTCTTGGGCATATCTGA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	154	159			NA	NA	7		NA											NA				5754711		2203	4300	6503	SO:0001819	synonymous_variant			AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275	54476	54476		RING-type (C3HC4) zinc fingers	21698	protein-coding gene	gene with protein product		609948			NA		Standard	NM_207111	NM_207111	NA	Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.1635C>A	7.37:g.5754711G>T		NA	Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	37	CCDS34595.1																																																																																			RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340374.1		-	ENST00000425013.2	Silent	SNP	7 : 5754711 - 5754711 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	889	43
FHOD3	80206	broad.mit.edu	37	18	34289191	34289191	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34289191A>G	ENST00000590592.1	+	18	2370	c.2370A>G	c.(2368-2370)gcA>gcG	p.A790A	FHOD3_ENST00000445677.1_Silent_p.A577A|FHOD3_ENST00000257209.4_Silent_p.A615A|FHOD3_ENST00000587493.1_3'UTR|FHOD3_ENST00000359247.4_Silent_p.A598A|FHOD3_ENST00000591635.1_Intron	NM_001281740.1	NP_001268669.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	598					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TGGAGCAGGCACTAGAGCAAG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	78	76			NA	NA	18		NA											NA				34289191		2203	4300	6503	SO:0001819	synonymous_variant			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775	80206	80206			26178	protein-coding gene	gene with protein product		609691			NA	11214970	Standard	XM_371114	NM_025135	NA	Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000590592.1:c.2370A>G	18.37:g.34289191A>G		NA	A8MQT4|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	37	CCDS32816.1																																																																																			FHOD3-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460883.1		+	ENST00000590592.1	Silent	SNP	18 : 34289191 - 34289191 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	632	117
TTBK1	84630	broad.mit.edu	37	6	43250511	43250511	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43250511C>T	ENST00000259750.4	+	14	2116	c.2033C>T	c.(2032-2034)gCt>gTt	p.A678V		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	678						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CTCCCACGAGCTGTGCCTCTG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	104	101			NA	NA	6		NA											NA				43250511		2203	4300	6503	SO:0001583	missense			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216	84630	84630			19140	protein-coding gene	gene with protein product					NA	11347906	Standard		XM_006715229	NA	Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.2033C>T	6.37:g.43250511C>T	ENSP00000259750:p.Ala678Val	NA	A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	37	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.561581	0.27915	.	.	ENSG00000146216	ENST00000259750	T	0.50813	0.73	4.27	3.39	0.38822	.	0.517766	0.18275	N	0.146196	T	0.13457	0.0326	N	0.25647	0.755	0.80722	D	1	B	0.12013	0.005	B	0.11329	0.006	T	0.07888	-1.0749	10	0.17832	T	0.49	.	6.3882	0.21572	0.0:0.6956:0.0:0.3044	.	678	Q5TCY1	TTBK1_HUMAN	V	678	ENSP00000259750:A678V	ENSP00000259750:A678V	A	+	2	0	TTBK1	43358489	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.835000	0.39181	0.775000	0.33450	-0.300000	0.09419	GCT	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040584.3		+	ENST00000259750.4	Missense_Mutation	SNP	6 : 43250511 - 43250511 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	924	146
C7orf61	402573	broad.mit.edu	37	7	100060989	100060989	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100060989C>T	ENST00000332375.3	-	2	629	c.384G>A	c.(382-384)tgG>tgA	p.W128*	TSC22D4_ENST00000496728.1_5'UTR	NM_001004323.1	NP_001004323.1	Q8IZ16	CG061_HUMAN	chromosome 7 open reading frame 61	128										central_nervous_system(1)|endometrium(1)|prostate(1)|skin(1)	4						TGCTGACCTTCCAGCTGCACA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	67	65			NA	NA	7		NA											NA				100060989		2060	4207	6267	SO:0001587	stop_gained				CCDS47661.1	7q22.1	2013-10-11			ENSG00000185955	ENSG00000185955	402573	402573			22135	protein-coding gene	gene with protein product					NA	12690205	Standard	NM_001004323	NM_001004323	NA	Approved	IMAGE:4839025	uc003uuz.1	Q8IZ16	OTTHUMG00000150234	ENST00000332375.3:c.384G>A	7.37:g.100060989C>T	ENSP00000327732:p.Trp128*	NA		37	CCDS47661.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.31|14.31	2.496895|2.496895	0.44352|0.44352	.|.	.|.	ENSG00000185955|ENSG00000185955	ENST00000418952|ENST00000332375	.|.	.|.	.|.	4.02|4.02	3.14|3.14	0.36123|0.36123	.|.	.|0.000000	.|0.37715	.|N	.|0.001969	T|.	0.27489|.	0.0675|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.15122|.	-1.0448|.	4|.	.|0.02654	.|T	.|1	-0.0079|-0.0079	7.6939|7.6939	0.28583|0.28583	0.0:0.8864:0.0:0.1136|0.0:0.8864:0.0:0.1136	.|.	.|.	.|.	.|.	K|X	170|128	.|.	.|ENSP00000327732:W128X	E|W	-|-	1|3	0|0	C7orf61|C7orf61	99898925|99898925	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.981000|0.981000	0.71138|0.71138	3.018000|3.018000	0.49625|0.49625	1.292000|1.292000	0.44672|0.44672	0.561000|0.561000	0.74099|0.74099	GAA|TGG	C7orf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316976.2		-	ENST00000332375.3	Nonsense_Mutation	SNP	7 : 100060989 - 100060989 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	590	124
GDI2	2665	broad.mit.edu	37	10	5810310	5810310	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5810310T>C	ENST00000380191.4	-	8	1147	c.857A>G	c.(856-858)tAc>tGc	p.Y286C	GDI2_ENST00000479928.1_5'UTR|GDI2_ENST00000380132.4_Missense_Mutation_p.Y290C|GDI2_ENST00000380181.3_Missense_Mutation_p.Y241C	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	286					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						ATCTTTTACGTAGCTGGGGTC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	87	91			NA	NA	10		NA											NA				5810310		2203	4300	6503	SO:0001583	missense			D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608	2665	2665			4227	protein-coding gene	gene with protein product	rab GDP-dissociation	600767			NA	9434952	Standard	NM_001494	NM_001494	NA	Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.857A>G	10.37:g.5810310T>C	ENSP00000369538:p.Tyr286Cys	NA	O43928|Q9UQM6	37	CCDS7071.1	.	.	.	.	.	.	.	.	.	.	T	18.82	3.705581	0.68615	.	.	ENSG00000057608	ENST00000380191;ENST00000380153;ENST00000447751;ENST00000380132;ENST00000380181	D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	D	0.96790	0.8952	M	0.89658	3.05	0.80722	D	1	D;D;D	0.76494	0.999;0.992;0.999	D;D;D	0.85130	0.993;0.981;0.997	D	0.97490	1.0053	10	0.87932	D	0	-20.6714	16.1557	0.81666	0.0:0.0:0.0:1.0	.	290;241;286	E7EU23;Q5SX88;P50395	.;.;GDIB_HUMAN	C	286;119;114;290;241	ENSP00000369538:Y286C;ENSP00000387565:Y114C;ENSP00000369475:Y290C;ENSP00000369528:Y241C	ENSP00000369475:Y290C	Y	-	2	0	GDI2	5850316	1.000000	0.71417	0.932000	0.37286	0.354000	0.29330	7.919000	0.87513	2.291000	0.77112	0.533000	0.62120	TAC	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046580.1		-	ENST00000380191.4	Missense_Mutation	SNP	10 : 5810310 - 5810310 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	278	58
SCAI	286205	broad.mit.edu	37	9	127791943	127791943	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127791943C>T	ENST00000336505.6	-	4	364	c.306G>A	c.(304-306)tgG>tgA	p.W102*	SCAI_ENST00000373549.4_Nonsense_Mutation_p.W125*	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	NA	Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity).|Required for interaction with MKL1 (By similarity).				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						GCTGGAACTTCCAGAGTTTGG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	79	80			NA	NA	9		NA											NA				127791943		1848	4099	5947	SO:0001587	stop_gained			AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611	286205	286205			26709	protein-coding gene	gene with protein product			chromosome 9 open reading frame 126	C9orf126	NA		Standard	NM_173690	NM_173690	NA	Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.306G>A	9.37:g.127791943C>T	ENSP00000336756:p.Trp102*	NA	Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	37	CCDS48017.1	.	.	.	.	.	.	.	.	.	.	C	36	5.853612	0.97030	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.7216	18.7503	0.91812	0.0:1.0:0.0:0.0	.	.	.	.	X	102;125	.	ENSP00000336756:W102X	W	-	3	0	SCAI	126831764	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.488000	0.81441	2.775000	0.95449	0.655000	0.94253	TGG	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054055.3		-	ENST00000336505.6	Nonsense_Mutation	SNP	9 : 127791943 - 127791943 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	190	36
EPHB3	2049	broad.mit.edu	37	3	184297593	184297593	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184297593C>T	ENST00000330394.2	+	11	2495	c.2043C>T	c.(2041-2043)agC>agT	p.S681S	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	681	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ACTTCCTAAGCGAGGCCTCCA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	66	68			NA	NA	3		NA											NA				184297593		2203	4300	6503	SO:0001819	synonymous_variant			X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580	2049	2049		EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3394	protein-coding gene	gene with protein product		601839	EphB3	ETK2	NA	8397371	Standard	NM_004443	NM_004443	NA	Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.2043C>T	3.37:g.184297593C>T		NA	Q7Z740	37	CCDS3268.1																																																																																			EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345413.1		+	ENST00000330394.2	Silent	SNP	3 : 184297593 - 184297593 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	482	93
IQGAP3	128239	broad.mit.edu	37	1	156499988	156499988	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156499988C>T	ENST00000361170.2	-	34	4323	c.4313G>A	c.(4312-4314)cGg>cAg	p.R1438Q		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1438					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGGACGCGCCGCTGCTTCTC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	47	49			NA	NA	1		NA											NA				156499988		2203	4300	6503	SO:0001583	missense			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856	128239	128239			20669	protein-coding gene	gene with protein product					NA		Standard	NM_178229	NM_178229	NA	Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.4313G>A	1.37:g.156499988C>T	ENSP00000354451:p.Arg1438Gln	NA	Q5T3H8	37	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033213	0.35893	.	.	ENSG00000183856	ENST00000361170	T	0.45276	0.9	4.5	0.432	0.16529	RasGAP protein, C-terminal (1);	0.204155	0.40554	N	0.001067	T	0.12902	0.0313	L	0.41710	1.295	0.32173	N	0.581325	B	0.23377	0.084	B	0.15052	0.012	T	0.11227	-1.0596	10	0.34782	T	0.22	-8.4963	8.3785	0.32457	0.0:0.6506:0.0:0.3494	.	1438	Q86VI3	IQGA3_HUMAN	Q	1438	ENSP00000354451:R1438Q	ENSP00000354451:R1438Q	R	-	2	0	IQGAP3	154766612	0.000000	0.05858	0.014000	0.15608	0.441000	0.31987	0.238000	0.18004	-0.076000	0.12775	-0.258000	0.10820	CGG	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080657.1		-	ENST00000361170.2	Missense_Mutation	SNP	1 : 156499988 - 156499988 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	141	31
TFCP2	7024	broad.mit.edu	37	12	51502943	51502943	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51502943C>A	ENST00000257915.5	-	6	1136	c.678G>T	c.(676-678)gaG>gaT	p.E226D	TFCP2_ENST00000548115.1_Intron|TFCP2_ENST00000307660.4_Intron|TFCP2_ENST00000549867.1_Missense_Mutation_p.E226D	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	226	DNA-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						AGTGTAAGTGCTCAGTATATT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													197	176	183			NA	NA	12		NA											NA				51502943		2203	4300	6503	SO:0001583	missense			U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457	7024	7024			11748	protein-coding gene	gene with protein product		189889			NA	8157699	Standard	NM_005653	NM_005653	NA	Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.678G>T	12.37:g.51502943C>A	ENSP00000257915:p.Glu226Asp	NA	A8K5E9|Q12801|Q9UD75|Q9UD77	37	CCDS8808.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.047049	0.55110	.	.	ENSG00000135457	ENST00000257915;ENST00000549867;ENST00000548108	T;T;T	0.18174	2.23;2.23;2.23	5.45	2.6	0.31112	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.28499	0.0705	L	0.47016	1.485	0.80722	D	1	B;D;B	0.71674	0.022;0.998;0.016	B;D;B	0.78314	0.03;0.991;0.059	T	0.01839	-1.1263	10	0.23891	T	0.37	-22.8115	9.453	0.38739	0.0:0.6972:0.0:0.3028	.	226;226;226	F8VX55;Q12800;Q12800-4	.;TFCP2_HUMAN;.	D	226;226;128	ENSP00000257915:E226D;ENSP00000449742:E226D;ENSP00000449280:E128D	ENSP00000257915:E226D	E	-	3	2	TFCP2	49789210	0.530000	0.26330	1.000000	0.80357	0.980000	0.70556	-0.191000	0.09601	0.803000	0.34113	0.655000	0.94253	GAG	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405119.1		-	ENST00000257915.5	Missense_Mutation	SNP	12 : 51502943 - 51502943 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	571	95
AFF2	2334	broad.mit.edu	37	X	148049205	148049205	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:148049205C>T	ENST00000370460.2	+	15	3729	c.3250C>T	c.(3250-3252)Cac>Tac	p.H1084Y	AFF2_ENST00000342251.3_Missense_Mutation_p.H1051Y|AFF2_ENST00000370457.5_Missense_Mutation_p.H1049Y|AFF2_ENST00000286437.5_Missense_Mutation_p.H725Y	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1084					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGCTGAAGCACAAAGCTGA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	151	156			NA	NA	X		NA											NA				148049205		2203	4300	6503	SO:0001583	missense			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966	2334	2334			3776	protein-coding gene	gene with protein product		300806	fragile X mental retardation 2	FMR2	NA		Standard	NM_002025	NM_002025	NA	Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3250C>T	X.37:g.148049205C>T	ENSP00000359489:p.His1084Tyr	NA	A2RTY4|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	37	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585519	0.86748	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.84133	0.5405	M	0.83774	2.66	0.80722	D	1	D;D;D;D;D;D	0.89917	0.994;0.978;0.995;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.992;0.98;0.991;0.997;0.997;0.998	D	0.85895	0.1431	10	0.72032	D	0.01	.	19.1178	0.93348	0.0:1.0:0.0:0.0	.	725;1049;1049;1045;1074;1084	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	Y	1084;1049;1051;725	ENSP00000359489:H1084Y;ENSP00000359486:H1049Y;ENSP00000345459:H1051Y;ENSP00000286437:H725Y	ENSP00000286437:H725Y	H	+	1	0	AFF2	147856899	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.783000	0.85696	2.465000	0.83290	0.594000	0.82650	CAC	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058673.2		+	ENST00000370460.2	Missense_Mutation	SNP	X : 148049205 - 148049205 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	259	73
DAB2	1601	broad.mit.edu	37	5	39382969	39382969	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:39382969C>T	ENST00000320816.6	-	10	1559	c.1092G>A	c.(1090-1092)tgG>tgA	p.W364*	DAB2_ENST00000339788.6_Intron|DAB2_ENST00000509337.1_Nonsense_Mutation_p.W343*|DAB2_ENST00000545653.1_Nonsense_Mutation_p.W343*	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	364					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TTGAAAAGGGCCATGGGCCTG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	81	80			NA	NA	5		NA											NA				39382969		2203	4300	6503	SO:0001587	stop_gained			U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071	1601	1601			2662	protein-coding gene	gene with protein product		601236	disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein), disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)		NA	8660969, 9620555	Standard	NM_001343	NM_001343	NA	Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.1092G>A	5.37:g.39382969C>T	ENSP00000313391:p.Trp364*	NA	A6NES5|Q13598|Q9BTY0|Q9UK04	37	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	C	37	6.162273	0.97338	.	.	ENSG00000153071	ENST00000320816;ENST00000545653;ENST00000509337	.	.	.	5.73	5.73	0.89815	.	0.075986	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4116	20.2602	0.98440	0.0:1.0:0.0:0.0	.	.	.	.	X	364;343;343	.	ENSP00000313391:W364X	W	-	3	0	DAB2	39418726	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	7.445000	0.80570	2.861000	0.98227	0.655000	0.94253	TGG	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367014.1		-	ENST00000320816.6	Nonsense_Mutation	SNP	5 : 39382969 - 39382969 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	341	56
LUM	4060	broad.mit.edu	37	12	91502072	91502072	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91502072T>C	ENST00000266718.4	-	2	1139	c.685A>G	c.(685-687)Aat>Gat	p.N229D	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	229					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TGCAATGCATTAAAACGCTTG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													170	159	163			NA	NA	12		NA											NA				91502072		2203	4300	6503	SO:0001583	missense			BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329		4060	4060		Proteoglycans / Extracellular Matrix : Small leucine-rich repeats	6724	protein-coding gene	gene with protein product	lumican proteoglycan	600616		LDC	NA	7558030	Standard	NM_002345	NM_002345	NA	Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.685A>G	12.37:g.91502072T>C	ENSP00000266718:p.Asn229Asp	NA	B2R6R5|Q96QM7	37	CCDS9038.1	.	.	.	.	.	.	.	.	.	.	T	11.77	1.737966	0.30774	.	.	ENSG00000139329	ENST00000266718	T	0.56611	0.45	5.84	4.7	0.59300	.	1.142620	0.06250	N	0.691833	T	0.42944	0.1225	N	0.16166	0.38	0.09310	N	1	B	0.16166	0.016	B	0.25987	0.065	T	0.43294	-0.9400	10	0.59425	D	0.04	-14.8601	11.6157	0.51088	0.0:0.0691:0.0:0.9309	.	229	P51884	LUM_HUMAN	D	229	ENSP00000266718:N229D	ENSP00000266718:N229D	N	-	1	0	LUM	90026203	0.517000	0.26226	0.037000	0.18230	0.844000	0.47949	2.745000	0.47459	1.049000	0.40321	0.455000	0.32223	AAT	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407150.2		-	ENST00000266718.4	Missense_Mutation	SNP	12 : 91502072 - 91502072 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	742	123
TELO2	9894	broad.mit.edu	37	16	1551487	1551487	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1551487G>A	ENST00000262319.6	+	10	1627	c.1348G>A	c.(1348-1350)Gcc>Acc	p.A450T		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	450						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GGGTGACGGCGCCTCGGAGGC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	28	28			NA	NA	16		NA											NA				1551487		2195	4295	6490	SO:0001583	missense			AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726	9894	9894			29099	protein-coding gene	gene with protein product		611140	TEL2, telomere maintenance 2, homolog (S. cerevisiae)		NA	9734811, 11230166, 12670948	Standard	NM_016111	NM_016111	NA	Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.1348G>A	16.37:g.1551487G>A	ENSP00000262319:p.Ala450Thr	NA	D3DU73|O75168|Q7LDV4|Q9BR21	37	CCDS32363.1	.	.	.	.	.	.	.	.	.	.	g	8.776	0.927147	0.18056	.	.	ENSG00000100726	ENST00000437914;ENST00000262319	D	0.83992	-1.79	5.27	-5.6	0.02497	.	1.112770	0.06593	N	0.752326	T	0.55909	0.1950	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47394	-0.9121	10	0.13108	T	0.6	-6.8133	0.4389	0.00483	0.2154:0.1788:0.2547:0.351	.	450	Q9Y4R8	TELO2_HUMAN	T	64;450	ENSP00000262319:A450T	ENSP00000262319:A450T	A	+	1	0	TELO2	1491488	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.310000	0.08135	-1.029000	0.03317	-0.142000	0.14014	GCC	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000103602.2		+	ENST00000262319.6	Missense_Mutation	SNP	16 : 1551487 - 1551487 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	167	39
GAD1	2571	broad.mit.edu	37	2	171702066	171702066	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171702066T>C	ENST00000358196.3	+	8	1352	c.802T>C	c.(802-804)Ttc>Ctc	p.F268L		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	268					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CTACAAGTACTTCCCGGAAGT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	117	116			NA	NA	2		NA											NA				171702066		2203	4300	6503	SO:0001583	missense				CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	2571	2571	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	glutamate decarboxylase 1 (brain, 67kD)	GAD	NA	1549570	Standard		XM_005246443	NA	Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.802T>C	2.37:g.171702066T>C	ENSP00000350928:p.Phe268Leu	NA	Q53TQ7|Q9BU91|Q9UHH4	37	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.634935	0.47049	.	.	ENSG00000128683	ENST00000358196	T	0.35236	1.32	5.67	5.67	0.87782	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.49571	1.57	0.80722	D	1	P	0.49862	0.929	P	0.50049	0.629	T	0.43442	-0.9391	10	0.66056	D	0.02	-17.3573	15.91	0.79467	0.0:0.0:0.0:1.0	.	268	Q99259	DCE1_HUMAN	L	268	ENSP00000350928:F268L	ENSP00000350928:F268L	F	+	1	0	GAD1	171410312	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.698000	0.84413	2.141000	0.66446	0.533000	0.62120	TTC	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000102664.2		+	ENST00000358196.3	Missense_Mutation	SNP	2 : 171702066 - 171702066 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	598	98
PGBD2	267002	broad.mit.edu	37	1	249212090	249212090	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:249212090G>A	ENST00000355360.4	+	3	824	c.554G>A	c.(553-555)cGt>cAt	p.R185H	PGBD2_ENST00000539153.1_Missense_Mutation_p.R433H|PGBD2_ENST00000329291.5_Missense_Mutation_p.R436H	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	436										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CTGACCAGTCGTCACTCTGGA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	90	74	79		1307,554	1.5	0	1		79	0,8600		0,0,4300	no	missense,missense	PGBD2	NM_170725.2,NM_001017434.1	29,29	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	benign,benign	436/593,185/342	249212090	1,13005	2203	4300	6503	SO:0001583	missense			AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220	NA	267002			19399	protein-coding gene	gene with protein product					NA		Standard		XM_005270333	NA	Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000355360.4:c.554G>A	1.37:g.249212090G>A	ENSP00000355424:p.Arg185His	NA	B3KVR8|Q6MZF8	37	CCDS31129.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.451934	0.01080	2.27E-4	0.0	ENSG00000185220	ENST00000355360;ENST00000329291;ENST00000539153	T;T;T	0.20200	2.09;2.09;2.09	3.58	1.47	0.22746	.	0.477093	0.15029	N	0.284560	T	0.18759	0.0450	M	0.64997	1.995	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.0	T	0.23797	-1.0178	10	0.27785	T	0.31	-5.3232	6.2778	0.20991	0.223:0.0:0.777:0.0	.	433;436	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	H	185;436;433	ENSP00000355424:R185H;ENSP00000331643:R436H;ENSP00000439950:R433H	ENSP00000331643:R436H	R	+	2	0	PGBD2	247178713	0.001000	0.12720	0.000000	0.03702	0.042000	0.13812	0.181000	0.16880	0.217000	0.20800	0.467000	0.42956	CGT	PGBD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097319.1		+	ENST00000355360.4	Missense_Mutation	SNP	1 : 249212090 - 249212090 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	278	29
HSD17B6	8630	broad.mit.edu	37	12	57167744	57167744	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57167744C>T	ENST00000554643.1	+	3	457	c.108C>T	c.(106-108)ggC>ggT	p.G36G	HSD17B6_ENST00000555159.1_Silent_p.G36G|HSD17B6_ENST00000322165.1_Silent_p.G36G|HSD17B6_ENST00000555805.1_Silent_p.G36G|HSD17B6_ENST00000554150.1_Silent_p.G36G			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	36					androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	TTATCACGGGCTGTGACTCGG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	59	59			NA	NA	12		NA											NA				57167744		2203	4300	6503	SO:0001819	synonymous_variant			AF016509	CCDS8925.1	12q13.3	2012-12-07	2012-12-07		ENSG00000025423	ENSG00000025423	8630	8630	1.1.1.62, 1.1.1.63, 1.1.1.105	Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2	23316	protein-coding gene	gene with protein product	oxidative 3-alpha-hydroxysteroid-dehydrogenase, 3(alpha->beta)-hydroxysteroid epimerasel, retinol dehydrogenase, oxidoreductase, NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase, 3-hydroxysteroid epimerase, short chain dehydrogenase/reductase family 9C, member 6	606623	hydroxysteroid (17-beta) dehydrogenase 6, hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse)		NA	11165032, 19027726	Standard	NM_003725	XM_005269207	NA	Approved	HSE, RODH, SDR9C6	uc001smg.1	O14756	OTTHUMG00000170854	ENST00000554643.1:c.108C>T	12.37:g.57167744C>T		NA	O43275	37	CCDS8925.1																																																																																			HSD17B6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410714.1		+	ENST00000554643.1	Silent	SNP	12 : 57167744 - 57167744 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	372	14
C6orf106	64771	broad.mit.edu	37	6	34574651	34574651	+	Missense_Mutation	SNP	A	A	G	rs149349132		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34574651A>G	ENST00000374023.3	-	4	785	c.542T>C	c.(541-543)gTg>gCg	p.V181A	C6orf106_ENST00000374021.1_Missense_Mutation_p.V107A|C6orf106_ENST00000374026.3_Missense_Mutation_p.V115A	NM_024294.2	NP_077270.1	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106	181										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						AAGTCCACCCACCTCCACACT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	61	63			NA	NA	6		NA											NA				34574651		2203	4300	6503	SO:0001583	missense			AF052106	CCDS4795.1, CCDS4796.1	6p21.31	2012-01-27			ENSG00000196821	ENSG00000196821	64771	64771			21215	protein-coding gene	gene with protein product		612217			NA		Standard	NM_022758	XM_005249298	NA	Approved	FLJ22195, dJ391O22.4	uc003ojr.2	Q9H6K1	OTTHUMG00000014553	ENST00000374023.3:c.542T>C	6.37:g.34574651A>G	ENSP00000363135:p.Val181Ala	NA	B2R8K7|Q5VV77|Q96MG5|Q9BUR9	37	CCDS4796.1	.	.	.	.	.	.	.	.	.	.	A	9.088	1.001044	0.19121	.	.	ENSG00000196821	ENST00000374023;ENST00000374026;ENST00000374021	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.10680	0.0261	N	0.02665	-0.54	0.45477	D	0.998447	B;B	0.11235	0.002;0.004	B;B	0.13407	0.009;0.006	T	0.23619	-1.0183	9	0.11182	T	0.66	-9.5435	10.0971	0.42482	0.9248:0.0:0.0752:0.0	.	115;181	Q9H6K1-2;Q9H6K1	.;CF106_HUMAN	A	181;115;107	.	ENSP00000363133:V107A	V	-	2	0	C6orf106	34682629	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.165000	0.71891	2.164000	0.68074	0.454000	0.30748	GTG	C6orf106-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040251.1		-	ENST00000374023.3	Missense_Mutation	SNP	6 : 34574651 - 34574651 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	390	64
CPO	130749	broad.mit.edu	37	2	207823081	207823081	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207823081C>T	ENST00000272852.3	+	4	370	c.324C>T	c.(322-324)caC>caT	p.H108H		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	108					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		GTGGAATTCACGCCAGAGAAT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	215	203	207		324	-2	1	2		207	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CPO	NM_173077.2		0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077		108/375	207823081	1,13005	2203	4300	6503	SO:0001819	synonymous_variant				CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410	130749	130749			21011	protein-coding gene	gene with protein product	metallocarboxypeptidase O, metallocarboxypeptidase C	609563			NA	11836249	Standard	NM_173077	NM_173077	NA	Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.324C>T	2.37:g.207823081C>T		NA	Q2M277|Q7RTW7	37	CCDS2372.1																																																																																			CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000202040.2		+	ENST00000272852.3	Silent	SNP	2 : 207823081 - 207823081 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1190	50
CYP4F2	8529	broad.mit.edu	37	19	15990414	15990414	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15990414C>A	ENST00000221700.6	-	11	1409	c.1314G>T	c.(1312-1314)gaG>gaT	p.E438D		NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	NA					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGCCCCGCACCTCAGGGTCCG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	100	96			NA	NA	19		NA											NA				15990414		2203	4300	6503	SO:0001630	splice_region_variant			U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115	8529	8529		Cytochrome P450s	2645	protein-coding gene	gene with protein product		604426	cytochrome P450, subfamily IVF, polypeptide 2		NA	8424651, 8026587	Standard	NM_001082	NM_001082	NA	Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.1314+1G>T	19.37:g.15990414C>A		NA	A8K425|Q16677|Q6NWT4|Q6NWT6|Q9NNZ0|Q9UIU8	37	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	c	9.571	1.120908	0.20877	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	T	0.72835	-0.69	2.78	2.78	0.32641	.	0.306318	0.25801	U	0.028219	T	0.66470	0.2792	L	0.49256	1.55	0.80722	D	1	B	0.26902	0.163	B	0.37451	0.25	T	0.62277	-0.6888	9	.	.	.	.	11.279	0.49184	0.0:1.0:0.0:0.0	.	438	P78329	CP4F2_HUMAN	D	438;289	ENSP00000221700:E438D	.	E	-	3	2	CYP4F2	15851414	1.000000	0.71417	0.991000	0.47740	0.241000	0.25554	1.513000	0.35823	1.528000	0.49103	0.491000	0.48974	GAG	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460372.3	Missense_Mutation	-	ENST00000221700.6	Splice_Site	SNP	19 : 15990414 - 15990414 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	821	118
OR5AS1	219447	broad.mit.edu	37	11	55798820	55798820	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55798820G>T	ENST00000313555.1	+	1	926	c.926G>T	c.(925-927)gGa>gTa	p.G309V		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GAAAGAATTGGATATTCAAAT	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	53	51			NA	NA	11		NA											NA				55798820		2197	4294	6491	SO:0001583	missense			AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785	219447	219447		GPCR / Class A : Olfactory receptors	15261	protein-coding gene	gene with protein product					NA		Standard	NM_001001921	NM_001001921	NA	Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.926G>T	11.37:g.55798820G>T	ENSP00000324111:p.Gly309Val	NA	Q6IFB8	37	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.563982	0.00903	.	.	ENSG00000181785	ENST00000313555	T	0.00355	7.91	3.1	-1.18	0.09617	.	.	.	.	.	T	0.00144	0.0004	N	0.14661	0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.06899	-1.0801	9	0.15499	T	0.54	.	3.8059	0.08777	0.2877:0.0:0.4271:0.2851	.	309	Q8N127	O5AS1_HUMAN	V	309	ENSP00000324111:G309V	ENSP00000324111:G309V	G	+	2	0	OR5AS1	55555396	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.628000	0.05515	-0.586000	0.05898	-3.086000	0.00065	GGA	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391538.1		+	ENST00000313555.1	Missense_Mutation	SNP	11 : 55798820 - 55798820 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	301	38
DUSP14	11072	broad.mit.edu	37	17	35872880	35872880	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35872880C>T	ENST00000487847.1	+	2	1484	c.506C>T	c.(505-507)tCg>tTg	p.S169L	DUSP14_ENST00000394389.4_Missense_Mutation_p.S169L|DUSP14_ENST00000394386.1_Missense_Mutation_p.S169L			O95147	DUS14_HUMAN	dual specificity phosphatase 14	169							MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9		Breast(25;0.00637)|Ovarian(249;0.15)				TTTGGGAAGTCGACAGTTAAA	0.537		NA											C	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	EXOME	NA	NA	3e-04	SNP								NA				0													55	56	56			NA	NA	17		NA											NA				35872880		2203	4300	6503	SO:0001583	missense			AF038844	CCDS11320.1	17q12	2014-05-06			ENSG00000161326	ENSG00000276023	11072	11072		Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases	17007	protein-coding gene	gene with protein product	MKP-1 like protein tyrosine phosphatase	606618			NA	11123293	Standard	NM_007026	XM_005256977	NA	Approved	MKP-L, MKP6	uc002hnx.2	O95147	OTTHUMG00000188472	ENST00000487847.1:c.506C>T	17.37:g.35872880C>T	ENSP00000466299:p.Ser169Leu	NA		37	CCDS11320.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.32	2.798010	0.50208	.	.	ENSG00000161326	ENST00000394389;ENST00000394386	T;T	0.62232	0.04;0.04	5.97	5.97	0.96955	.	0.112497	0.56097	D	0.000034	T	0.48132	0.1483	N	0.19112	0.55	0.38696	D	0.952888	B	0.23735	0.09	B	0.10450	0.005	T	0.50882	-0.8775	10	0.87932	D	0	.	13.7953	0.63166	0.2676:0.7324:0.0:0.0	.	169	O95147	DUS14_HUMAN	L	169	ENSP00000377912:S169L;ENSP00000377910:S169L	ENSP00000377910:S169L	S	+	2	0	DUSP14	32946993	0.903000	0.30736	0.971000	0.41717	0.987000	0.75469	1.805000	0.38883	2.833000	0.97629	0.585000	0.79938	TCG	DUSP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256680.3		+	ENST00000487847.1	Missense_Mutation	SNP	17 : 35872880 - 35872880 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	424	83
DST	667	broad.mit.edu	37	6	56417657	56417657	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56417657G>A	ENST00000361203.3	-	57	15307	c.15300C>T	c.(15298-15300)taC>taT	p.Y5100Y	DST_ENST00000421834.2_Silent_p.Y3014Y|DST_ENST00000370769.4_Silent_p.Y5102Y|DST_ENST00000370754.5_Silent_p.Y5280Y|DST_ENST00000446842.2_Silent_p.Y4776Y|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Silent_p.Y3014Y|DST_ENST00000244364.6_Silent_p.Y2688Y			Q03001	DYST_HUMAN	dystonin	5210					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACATGGTCAGGTATTTGTTAC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	139	142			NA	NA	6		NA											NA				56417657		1912	4151	6063	SO:0001819	synonymous_variant			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914	667	667		EF-hand domain containing	1090	protein-coding gene	gene with protein product		113810	bullous pemphigoid antigen 1, 230/240kDa	BPAG1	NA	2461961, 2276744	Standard	NM_001723	NM_001144770	NA	Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.15300C>T	6.37:g.56417657G>A		NA	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	37																																																																																				DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000041021.3		-	ENST00000361203.3	Silent	SNP	6 : 56417657 - 56417657 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	714	145
KCNT2	343450	broad.mit.edu	37	1	196227349	196227349	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196227349G>T	ENST00000367433.5	-	25	3215	c.3114C>A	c.(3112-3114)caC>caA	p.H1038Q	KCNT2_ENST00000609185.1_Missense_Mutation_p.H995Q|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000294725.9_Missense_Mutation_p.H1062Q|KCNT2_ENST00000367431.4_Missense_Mutation_p.H996Q	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1062						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AAAGACCCAAGTGTTTCATTC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	111	109			NA	NA	1		NA											NA				196227349		2203	4300	6503	SO:0001583	missense			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687	343450	343450		Potassium channels, Voltage-gated ion channels / Potassium channels, calcium-activated	18866	protein-coding gene	gene with protein product	sodium and chloride activated ATP sensitive potassium channel	610044			NA	16382103	Standard	NM_198503	NM_198503	NA	Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000367433.5:c.3114C>A	1.37:g.196227349G>T	ENSP00000356403:p.His1038Gln	NA	Q3SY59|Q5VTN1|Q6ZMT3	37		.	.	.	.	.	.	.	.	.	.	G	13.63	2.295257	0.40594	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.18502	2.21;2.24;2.51	5.96	4.07	0.47477	.	0.089437	0.48767	D	0.000168	T	0.40222	0.1108	M	0.79805	2.47	0.80722	D	1	D;D;D;P	0.67145	0.996;0.973;0.973;0.716	D;P;P;B	0.66497	0.944;0.726;0.726;0.221	T	0.34950	-0.9808	10	0.51188	T	0.08	-18.9987	12.1512	0.54051	0.1908:0.0:0.8092:0.0	.	1027;1038;995;1062	Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	Q	1038;996;1062	ENSP00000356403:H1038Q;ENSP00000356401:H996Q;ENSP00000294725:H1062Q	ENSP00000294725:H1062Q	H	-	3	2	KCNT2	194493972	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.931000	0.28871	1.518000	0.48934	0.643000	0.83706	CAC	KCNT2-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000086419.1		-	ENST00000367433.5	Missense_Mutation	SNP	1 : 196227349 - 196227349 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	497	113
ASAP2	8853	broad.mit.edu	37	2	9541430	9541430	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9541430G>A	ENST00000281419.3	+	27	3191	c.2851G>A	c.(2851-2853)Gcg>Acg	p.A951T	ASAP2_ENST00000315273.4_Missense_Mutation_p.A906T	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	951	SH3.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GCGGGTGAAAGCGCTCTATAA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	105	107			NA	NA	2		NA											NA				9541430		2202	4298	6500	SO:0001583	missense			AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693	8853	8853		ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing	2721	protein-coding gene	gene with protein product	centaurin, beta 3	603817	development and differentiation enhancing factor 2	DDEF2	NA	10022920, 9455477	Standard	NM_003887	NM_003887	NA	Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.2851G>A	2.37:g.9541430G>A	ENSP00000281419:p.Ala951Thr	NA	D6W4Y8	37	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387495	0.61956	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.69685	-0.42;-0.42	5.66	5.66	0.87406	Src homology-3 domain (4);	0.049976	0.85682	D	0.000000	D	0.85177	0.5637	M	0.90019	3.08	0.58432	D	0.999999	D;B	0.71674	0.998;0.008	D;B	0.81914	0.995;0.106	D	0.84036	0.0362	10	0.30078	T	0.28	.	19.7439	0.96243	0.0:0.0:1.0:0.0	.	906;951	O43150-2;O43150	.;ASAP2_HUMAN	T	951;906	ENSP00000281419:A951T;ENSP00000316404:A906T	ENSP00000281419:A951T	A	+	1	0	ASAP2	9458881	1.000000	0.71417	0.979000	0.43373	0.730000	0.41778	9.452000	0.97615	2.669000	0.90835	0.655000	0.94253	GCG	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000237522.1		+	ENST00000281419.3	Missense_Mutation	SNP	2 : 9541430 - 9541430 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	403	67
SLC46A3	283537	broad.mit.edu	37	13	29287142	29287142	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:29287142A>G	ENST00000380814.4	-	3	1233	c.735T>C	c.(733-735)acT>acC	p.T245T	SLC46A3_ENST00000266943.6_Silent_p.T245T			Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	245					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		AAAGCATGTAAGTTCGGTAAA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	42	42			NA	NA	13		NA											NA				29287142		2203	4298	6501	SO:0001819	synonymous_variant				CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508	283537	283537		Solute carriers	27501	protein-coding gene	gene with protein product					NA		Standard	NM_181785	NM_001135919	NA	Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000380814.4:c.735T>C	13.37:g.29287142A>G		NA	Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	37	CCDS45021.1																																																																																			SLC46A3-001	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044324.2		-	ENST00000380814.4	Silent	SNP	13 : 29287142 - 29287142 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	174	34
PPRC1	23082	broad.mit.edu	37	10	103908623	103908623	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103908623G>A	ENST00000278070.2	+	12	4706	c.4667G>A	c.(4666-4668)cGa>cAa	p.R1556Q	PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000413464.2_Missense_Mutation_p.R1292Q|PPRC1_ENST00000370012.1_Missense_Mutation_p.R523Q	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1556	RRM.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CGCATGACTCGATCAGAGCTG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	GLN/ARG	0,4406		0,0,2203	89	87	88		4667	5.7	1	10		88	1,8599	1.2+/-3.3	0,1,4299	no	missense	PPRC1	NM_015062.3	43	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	possibly-damaging	1556/1665	103908623	1,13005	2203	4300	6503	SO:0001583	missense			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840	23082	23082		RNA binding motif (RRM) containing	30025	protein-coding gene	gene with protein product			peroxisome proliferative activated receptor, gamma, coactivator-related 1		NA	9628581, 11340167	Standard	NM_015062	XM_005269656	NA	Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4667G>A	10.37:g.103908623G>A	ENSP00000278070:p.Arg1556Gln	NA	Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	37	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	g	22.4	4.291454	0.80914	0.0	1.16E-4	ENSG00000148840	ENST00000278070;ENST00000413464;ENST00000370012	T;T;T	0.15256	2.44;2.44;2.44	5.73	5.73	0.89815	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.055167	0.64402	D	0.000001	T	0.28532	0.0706	L	0.27053	0.805	0.28658	N	0.906283	D;D;P	0.64830	0.99;0.994;0.915	D;P;P	0.64595	0.927;0.737;0.48	T	0.03910	-1.0993	10	0.56958	D	0.05	.	16.1782	0.81884	0.0:0.1331:0.8669:0.0	.	1292;1434;1556	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	Q	1556;1292;523	ENSP00000278070:R1556Q;ENSP00000399743:R1292Q;ENSP00000359029:R523Q	ENSP00000278070:R1556Q	R	+	2	0	PPRC1	103898613	0.954000	0.32549	1.000000	0.80357	0.993000	0.82548	4.277000	0.58939	2.704000	0.92352	0.549000	0.68633	CGA	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050021.1		+	ENST00000278070.2	Missense_Mutation	SNP	10 : 103908623 - 103908623 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	44
AGAP3	116988	broad.mit.edu	37	7	150839253	150839253	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150839253C>T	ENST00000463381.1	+	13	1466	c.970C>T	c.(970-972)Cga>Tga	p.R324*	AGAP3_ENST00000397238.2_Nonsense_Mutation_p.R655*	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	619	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GCGACAGACTCGACTGGGGAA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	150	147			NA	NA	7		NA											NA				150839253		2086	4212	6298	SO:0001587	stop_gained			AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612	116988	116988		ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing	16923	protein-coding gene	gene with protein product			centaurin, gamma 3	CENTG3	NA		Standard	NM_031946	NM_001042535	NA	Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.970C>T	7.37:g.150839253C>T	ENSP00000418016:p.Arg324*	NA	Q59EN0|Q96RK3	37		.	.	.	.	.	.	.	.	.	.	C	41	8.899776	0.98996	.	.	ENSG00000133612	ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355	.	.	.	4.77	3.87	0.44632	.	0.186266	0.40302	N	0.001132	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1854	0.59677	0.161:0.839:0.0:0.0	.	.	.	.	X	324;154;655;619	.	ENSP00000334157:R619X	R	+	1	2	AGAP3	150470186	1.000000	0.71417	0.264000	0.24511	0.574000	0.36063	4.588000	0.60999	1.088000	0.41272	0.655000	0.94253	CGA	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000351909.2		+	ENST00000463381.1	Nonsense_Mutation	SNP	7 : 150839253 - 150839253 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1799	87
GIMAP1	170575	broad.mit.edu	37	7	150417218	150417218	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150417218C>A	ENST00000307194.5	+	3	266	c.126C>A	c.(124-126)gcC>gcA	p.A42A		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1	NA										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGAAGAGCGCCACTGGGAACA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	81	78			NA	NA	7		NA											NA				150417218		2203	4300	6503	SO:0001819	synonymous_variant			AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203	170575	170575		GTPases, IMAP	23237	protein-coding gene	gene with protein product	immune-associated nucleotide-binding protein 2	608084			NA	15474311, 18701445	Standard	NM_130759	NM_130759	NA	Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.126C>A	7.37:g.150417218C>A		NA		37	CCDS5906.1																																																																																			GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348951.2		+	ENST00000307194.5	Silent	SNP	7 : 150417218 - 150417218 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	888	173
HPS4	89781	broad.mit.edu	37	22	26859939	26859939	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26859939G>T	ENST00000398145.2	-	11	2273	c.1657C>A	c.(1657-1659)Ctg>Atg	p.L553M	HPS4_ENST00000398141.1_Missense_Mutation_p.L566M|HPS4_ENST00000493455.2_5'UTR|HPS4_ENST00000336873.5_Missense_Mutation_p.L553M|HPS4_ENST00000402105.3_Missense_Mutation_p.L548M	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	553					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						AGCAGGGACAGCACCAGCCCT	0.617		NA							Hermansky-Pudlak syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	53	55			NA	NA	22		NA											NA				26859939		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	HPS, HPS1-8		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099	89781	89781			15844	protein-coding gene	gene with protein product		606682			NA	11836498, 12663659	Standard	NM_022081	NM_022081	NA	Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.1657C>A	22.37:g.26859939G>T	ENSP00000381213:p.Leu553Met	NA	B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	37	CCDS13835.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407513	0.62399	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	5.27	4.25	0.50352	.	0.000000	0.64402	D	0.000007	T	0.47893	0.1470	M	0.77103	2.36	0.30626	N	0.758025	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0;0.999	T	0.52601	-0.8554	10	0.87932	D	0	-12.515	8.5227	0.33287	0.176:0.0:0.824:0.0	.	553;553;553;553;566;548	Q6ICH6;Q6P1K3;Q9NQG7;A8K2E6;Q9NQG7-4;Q9NQG7-3	.;.;HPS4_HUMAN;.;.;.	M	553;566;548;553	ENSP00000381213:L553M;ENSP00000381210:L566M;ENSP00000384185:L548M;ENSP00000338457:L553M	ENSP00000338457:L553M	L	-	1	2	HPS4	25189939	1.000000	0.71417	0.999000	0.59377	0.673000	0.39480	2.519000	0.45546	2.461000	0.83175	0.655000	0.94253	CTG	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320778.1		-	ENST00000398145.2	Missense_Mutation	SNP	22 : 26859939 - 26859939 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	269	9
MEFV	4210	broad.mit.edu	37	16	3293600	3293600	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3293600C>T	ENST00000339854.4	-	10	1386	c.1347G>A	c.(1345-1347)ctG>ctA	p.L449L	MEFV_ENST00000219596.1_Silent_p.L629L|MEFV_ENST00000536379.1_Silent_p.L418L|MEFV_ENST00000541159.1_3'UTR			O15553	MEFV_HUMAN	Mediterranean fever	629					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GGCCATCAGGCAGCCTCTCCC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	192	187			NA	NA	16		NA											NA				3293600		2197	4300	6497	SO:0001819	synonymous_variant			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313	4210	4210		Tripartite motif containing / Tripartite motif containing	6998	protein-coding gene	gene with protein product	pyrin	608107		MEF	NA	9288094	Standard	NM_000243	NM_000243	NA	Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000339854.4:c.1347G>A	16.37:g.3293600C>T		NA	D3DUC0|Q3MJ84|Q96PN4|Q96PN5	37																																																																																				MEFV-010	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000398510.1		-	ENST00000339854.4	Silent	SNP	16 : 3293600 - 3293600 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1861	331
TPPP	11076	broad.mit.edu	37	5	678080	678080	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:678080C>T	ENST00000360578.5	-	2	217	c.96G>A	c.(94-96)tcG>tcA	p.S32S		NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	32	Mediates interaction with LIMK1.				microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		CCGATTCCAGCGACAGCCTCT	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	19	18			NA	NA	5		NA											NA				678080		2198	4296	6494	SO:0001819	synonymous_variant			AB017016	CCDS3856.1	5p15.33	2008-02-05			ENSG00000171368	ENSG00000171368	11076	11076			24164	protein-coding gene	gene with protein product	brain specific protein p25 alpha	608773			NA	10083737, 12093283, 15590652, 17105200	Standard	NM_007030	NM_007030	NA	Approved	p25alpha, TPPP1, p25, TPPP/p25	uc003jbh.4	O94811	OTTHUMG00000131011	ENST00000360578.5:c.96G>A	5.37:g.678080C>T		NA		37	CCDS3856.1																																																																																			TPPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253645.3		-	ENST00000360578.5	Silent	SNP	5 : 678080 - 678080 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	164	24
TWISTNB	221830	broad.mit.edu	37	7	19748552	19748552	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:19748552C>A	ENST00000222567.5	-	1	158	c.88G>T	c.(88-90)Gag>Tag	p.E30*		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	30						microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						GTCGGCAACTCTAGGCAAGGC	0.652		NA									OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	34	36			NA	NA	7		NA											NA				19748552		2203	4299	6502	SO:0001587	stop_gained			AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849	221830	221830			18027	protein-coding gene	gene with protein product		608312			NA	12438708	Standard		NM_001002926	NA	Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.88G>T	7.37:g.19748552C>A	ENSP00000222567:p.Glu30*	735	A0PJ45|B7Z724	37	CCDS34606.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.695929	0.68386	.	.	ENSG00000105849	ENST00000222567	.	.	.	4.06	2.07	0.26955	.	0.257680	0.31636	N	0.007320	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-17.8129	9.31	0.37898	0.0:0.6893:0.2205:0.0901	.	.	.	.	X	30	.	ENSP00000222567:E30X	E	-	1	0	TWISTNB	19715077	0.720000	0.27996	0.579000	0.28588	0.173000	0.22820	2.198000	0.42705	1.046000	0.40249	0.655000	0.94253	GAG	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326463.1		-	ENST00000222567.5	Nonsense_Mutation	SNP	7 : 19748552 - 19748552 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	284	18
NHSL2	340527	broad.mit.edu	37	X	71359770	71359770	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:71359770G>A	ENST00000373677.1	+	2	2536	c.1274G>A	c.(1273-1275)cGa>cAa	p.R425Q	NHSL2_ENST00000535692.1_Missense_Mutation_p.R425Q|NHSL2_ENST00000540800.1_Missense_Mutation_p.R791Q|NHSL2_ENST00000510661.1_Missense_Mutation_p.R560Q			F5H593	F5H593_HUMAN	NHS-like 2	791										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					ATCTCCATCCGAAGCAAAACT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	79	86			NA	NA	X		NA											NA				71359770		2203	4300	6503	SO:0001583	missense					Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131	340527	340527			33737	protein-coding gene	gene with protein product					NA		Standard	NM_001013627	NM_001013627	NA	Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.1274G>A	X.37:g.71359770G>A	ENSP00000362781:p.Arg425Gln	NA		37		.	.	.	.	.	.	.	.	.	.	G	10.14	1.268020	0.23136	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.47177	1.46;0.87;0.85;0.87	5.93	4.02	0.46733	.	0.336461	0.23211	N	0.050675	T	0.37210	0.0995	L	0.51422	1.61	0.27091	N	0.962858	B;B;B	0.21381	0.032;0.055;0.055	B;B;B	0.12837	0.008;0.008;0.008	T	0.36407	-0.9749	10	0.59425	D	0.04	-0.4929	4.5488	0.12098	0.2009:0.1782:0.6209:0.0	.	791;560;425	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	Q	791;425;560;425	ENSP00000444617:R791Q;ENSP00000362781:R425Q;ENSP00000424079:R560Q;ENSP00000444914:R425Q	ENSP00000362781:R425Q	R	+	2	0	NHSL2	71276495	1.000000	0.71417	0.974000	0.42286	0.697000	0.40408	2.671000	0.46842	1.214000	0.43395	0.600000	0.82982	CGA	NHSL2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000057170.1		+	ENST00000373677.1	Missense_Mutation	SNP	X : 71359770 - 71359770 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	116	35
WNT2	7472	broad.mit.edu	37	7	116937895	116937895	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116937895G>A	ENST00000265441.3	-	4	923	c.624C>T	c.(622-624)tgC>tgT	p.C208C		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	208					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TCACCCCGTGGCACTTGCACT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	95	97			NA	NA	7		NA											NA				116937895		2203	4300	6503	SO:0001819	synonymous_variant			X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989	7472	7472		Wingless-type MMTV integration sites, Endogenous ligands	12780	protein-coding gene	gene with protein product	secreted growth factor	147870		INT1L1	NA	2971536	Standard	NM_003391	NM_003391	NA	Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.624C>T	7.37:g.116937895G>A		NA	Q75N05|Q9UDP9	37	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921671	0.33908	.	.	ENSG00000105989	ENST00000491214	T	0.61980	0.06	5.58	-1.85	0.07784	.	.	.	.	.	T	0.38931	0.1059	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34129	-0.9841	6	0.02654	T	1	.	12.2951	0.54842	0.4204:0.0:0.5796:0.0	.	.	.	.	S	116	ENSP00000419466:P116S	ENSP00000419466:P116S	P	-	1	0	WNT2	116725131	1.000000	0.71417	0.982000	0.44146	0.506000	0.33950	0.699000	0.25586	-0.144000	0.11314	-0.367000	0.07326	CCA	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059749.3		-	ENST00000265441.3	Silent	SNP	7 : 116937895 - 116937895 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	669	130
STON2	85439	broad.mit.edu	37	14	81862432	81862432	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:81862432G>T	ENST00000555447.1	-	4	591	c.179C>A	c.(178-180)tCt>tAt	p.S60Y	STON2_ENST00000267540.2_Missense_Mutation_p.S60Y	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	60					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ATGGTCTTGAGAGCCTCCATC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	72	74			NA	NA	14		NA											NA				81862432		2203	4300	6503	SO:0001583	missense			AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022	85439	85439			30652	protein-coding gene	gene with protein product	stoned B homolog 2 (Drosophila)	608467			NA	11381094, 11454741	Standard	NM_033104	NM_033104	NA	Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000555447.1:c.179C>A	14.37:g.81862432G>T	ENSP00000450857:p.Ser60Tyr	NA	Q17R24|Q6NT47|Q96RI7|Q96RU6	37	CCDS58332.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108371	0.37242	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	D;D	0.82081	-1.57;-1.57	5.82	5.82	0.92795	Stonin-2, N-terminal (1);	0.399278	0.26126	N	0.026196	T	0.80768	0.4686	L	0.56769	1.78	0.30386	N	0.781489	B;P;B	0.35155	0.213;0.487;0.178	B;B;B	0.37650	0.09;0.255;0.054	T	0.81035	-0.1115	10	0.51188	T	0.08	-16.2854	11.0189	0.47707	0.0841:0.0:0.9159:0.0	.	60;60;60	Q8WXE9;Q17R23;G3V2T7	STON2_HUMAN;.;.	Y	60;72;60	ENSP00000450857:S60Y;ENSP00000267540:S60Y	ENSP00000267540:S60Y	S	-	2	0	STON2	80932185	1.000000	0.71417	0.972000	0.41901	0.993000	0.82548	1.966000	0.40481	2.751000	0.94390	0.655000	0.94253	TCT	STON2-002	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413314.1		-	ENST00000555447.1	Missense_Mutation	SNP	14 : 81862432 - 81862432 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	344	35
RNF146	81847	broad.mit.edu	37	6	127608109	127608109	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127608109C>T	ENST00000368314.1	+	3	775	c.351C>T	c.(349-351)taC>taT	p.Y117Y	RNF146_ENST00000610153.1_Silent_p.Y117Y|RNF146_ENST00000608991.1_Silent_p.Y116Y|RNF146_ENST00000309649.3_Silent_p.Y116Y|RNF146_ENST00000356799.2_3'UTR	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	117	WWE.				positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GGTGGCAGTACGATGAGCGCA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	89	92			NA	NA	6		NA											NA				127608109		2203	4300	6503	SO:0001819	synonymous_variant			AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518	81847	81847		RING-type (C3HC4) zinc fingers	21336	protein-coding gene	gene with protein product		612137			NA		Standard	NM_030963	NM_001242844	NA	Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	ENST00000368314.1:c.351C>T	6.37:g.127608109C>T		NA	E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	37	CCDS56449.1																																																																																			RNF146-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042112.1		+	ENST00000368314.1	Silent	SNP	6 : 127608109 - 127608109 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	448	108
RNF123	63891	broad.mit.edu	37	3	49757969	49757969	+	Translation_Start_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49757969C>A	ENST00000327697.6	+	36	3670	c.3526C>A	c.(3526-3528)Ctg>Atg	p.L1176M	AMIGO3_ENST00000535833.1_De_novo_Start_OutOfFrame|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000433785.1_Missense_Mutation_p.L288M|RNF123_ENST00000497099.1_3'UTR|GMPPB_ENST00000308375.6_3'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1176						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		ATCAGTGCTCCTGGCAGATCC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	41	44			NA	NA	3		NA											NA				49757969		2203	4300	6503	SO:0001583	missense			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068	63891	63891		RING-type (C3HC4) zinc fingers	21148	protein-coding gene	gene with protein product		614472			NA		Standard	NM_022064	NM_022064	NA	Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.3526C>A	3.37:g.49757969C>A	ENSP00000328287:p.Leu1176Met	NA	A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	37	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331587	0.60853	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000433785	T	0.76448	-1.02	4.97	3.03	0.35002	.	0.000000	0.64402	D	0.000008	D	0.82379	0.5024	L	0.55990	1.75	0.47183	D	0.999348	D	0.71674	0.998	D	0.80764	0.994	T	0.82000	-0.0674	10	0.62326	D	0.03	-13.6696	8.1277	0.31008	0.0:0.735:0.0:0.265	.	1176	Q5XPI4	RN123_HUMAN	M	1176;1176;288	ENSP00000328287:L1176M	ENSP00000328287:L1176M	L	+	1	2	RNF123	49732973	0.922000	0.31269	1.000000	0.80357	0.969000	0.65631	1.594000	0.36697	1.331000	0.45412	0.561000	0.74099	CTG	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346475.2		+	ENST00000327697.6	Missense_Mutation	SNP	3 : 49757969 - 49757969 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	61
MSI2	124540	broad.mit.edu	37	17	55335665	55335665	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:55335665A>G	ENST00000284073.2	+	4	429	c.220A>G	c.(220-222)Agt>Ggt	p.S74G	MSI2_ENST00000416426.2_Missense_Mutation_p.S52G|MSI2_ENST00000322684.3_Missense_Mutation_p.S70G	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	74	RRM 1.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		AGACCCAGCAAGTGTAGATAA	0.458		NA	T	HOXA9	CML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		17	17q23.2	124540	musashi homolog 2 (Drosophila)		L	0													180	165	170			NA	NA	17		NA											NA				55335665		2203	4300	6503	SO:0001583	missense			BC001526	CCDS11596.1, CCDS11597.1	17q23.2	2013-07-16	2012-12-13				NA	124540		RNA binding motif (RRM) containing	18585	protein-coding gene	gene with protein product		607897	musashi homolog 2 (Drosophila)		NA	11588182	Standard		NM_138962	NA	Approved		uc002iuz.1	Q96DH6		ENST00000284073.2:c.220A>G	17.37:g.55335665A>G	ENSP00000284073:p.Ser74Gly	NA	Q7Z6M7|Q8N9T4	37	CCDS11596.1	.	.	.	.	.	.	.	.	.	.	A	13.75	2.331261	0.41297	.	.	ENSG00000153944	ENST00000416426;ENST00000284073;ENST00000322684	D;D;D	0.85773	-2.03;-2.03;-2.03	4.78	4.78	0.61160	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000001	D	0.90287	0.6962	M	0.67569	2.06	0.80722	D	1	D;B;B	0.53885	0.963;0.001;0.001	D;B;B	0.69824	0.966;0.002;0.009	D	0.89023	0.3436	10	0.32370	T	0.25	.	13.4938	0.61411	1.0:0.0:0.0:0.0	.	52;70;74	B4DHE8;Q96DH6-2;Q96DH6	.;.;MSI2H_HUMAN	G	52;74;70	ENSP00000414671:S52G;ENSP00000284073:S74G;ENSP00000313616:S70G	ENSP00000284073:S74G	S	+	1	0	MSI2	52690664	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.839000	0.75364	1.780000	0.52325	0.523000	0.50628	AGT	MSI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000441813.1		+	ENST00000284073.2	Missense_Mutation	SNP	17 : 55335665 - 55335665 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	841	150
OTOF	9381	broad.mit.edu	37	2	26705280	26705280	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26705280C>T	ENST00000272371.2	-	14	1699	c.1573G>A	c.(1573-1575)Gac>Aac	p.D525N	OTOF_ENST00000403946.3_Missense_Mutation_p.D525N	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	525					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACCTTTGTCTCCGTCATTA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(102;732 1451 20652 24062 31372)							NA				0													69	64	65			NA	NA	2		NA											NA				26705280		2203	4299	6502	SO:0001583	missense			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155	9381	9381			8515	protein-coding gene	gene with protein product	fer-1-like family member 2	603681		DFNB9	NA	10192385, 18381613	Standard		NM_194248	NA	Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.1573G>A	2.37:g.26705280C>T	ENSP00000272371:p.Asp525Asn	NA	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	37	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	33	5.272530	0.95429	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.80738	-1.41;-1.41	5.13	5.13	0.70059	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.049114	0.85682	D	0.000000	D	0.89536	0.6743	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88357	0.2985	10	0.33940	T	0.23	-40.0469	18.1792	0.89772	0.0:1.0:0.0:0.0	.	525	Q9HC10	OTOF_HUMAN	N	525	ENSP00000272371:D525N;ENSP00000385255:D525N	ENSP00000272371:D525N	D	-	1	0	OTOF	26558784	1.000000	0.71417	0.997000	0.53966	0.940000	0.58332	7.770000	0.85390	2.396000	0.81511	0.561000	0.74099	GAC	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214047.3		-	ENST00000272371.2	Missense_Mutation	SNP	2 : 26705280 - 26705280 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	422	97
SLC2A6	11182	broad.mit.edu	37	9	136337292	136337292	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136337292A>C	ENST00000371899.4	-	10	1452	c.1375T>G	c.(1375-1377)Ttc>Gtc	p.F459V	SLC2A6_ENST00000371897.4_Missense_Mutation_p.F397V|SLC2A6_ENST00000485978.1_5'UTR	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	459						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		TGGAGGCCGAAGGTGCTCTGC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	73	72			NA	NA	9		NA											NA				136337292		2203	4300	6503	SO:0001583	missense			AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326	11182	11182		Solute carriers	11011	protein-coding gene	gene with protein product		606813			NA	10970791	Standard	NM_017585	NM_001145099	NA	Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.1375T>G	9.37:g.136337292A>C	ENSP00000360966:p.Phe459Val	NA	A6NNU6|Q5SXD7|Q8NCC2	37	CCDS6975.1	.	.	.	.	.	.	.	.	.	.	A	10.89	1.478881	0.26511	.	.	ENSG00000160326	ENST00000371897;ENST00000371899	T;T	0.73363	0.24;-0.74	5.3	4.12	0.48240	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.118466	0.64402	N	0.000014	T	0.66096	0.2755	L	0.35593	1.075	0.36309	D	0.857513	P;P	0.52316	0.952;0.574	P;B	0.49085	0.6;0.255	T	0.67300	-0.5705	10	0.32370	T	0.25	.	6.2843	0.21025	0.7573:0.1619:0.0808:0.0	.	397;459	Q9UGQ3-2;Q9UGQ3	.;GTR6_HUMAN	V	397;459	ENSP00000360964:F397V;ENSP00000360966:F459V	ENSP00000360964:F397V	F	-	1	0	SLC2A6	135327113	1.000000	0.71417	0.990000	0.47175	0.142000	0.21351	3.332000	0.52083	0.826000	0.34661	0.529000	0.55759	TTC	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054909.1		-	ENST00000371899.4	Missense_Mutation	SNP	9 : 136337292 - 136337292 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	362	77
PMEPA1	56937	broad.mit.edu	37	20	56227521	56227521	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:56227521G>A	ENST00000341744.3	-	4	771	c.452C>T	c.(451-453)tCg>tTg	p.S151L	PMEPA1_ENST00000395814.1_Missense_Mutation_p.S101L|PMEPA1_ENST00000395816.3_Missense_Mutation_p.S101L|PMEPA1_ENST00000265626.4_Missense_Mutation_p.S101L|PMEPA1_ENST00000347215.4_Missense_Mutation_p.S116L	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	151					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GTCTGACAGCGAGATGGTGGG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	37	36			NA	NA	20		NA											NA				56227521		2203	4300	6503	SO:0001583	missense			AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225	56937	56937			14107	protein-coding gene	gene with protein product	solid tumor-associated 1	606564	transmembrane, prostate androgen induced RNA	TMEPAI	NA	10873380	Standard	NM_020182	NM_020182	NA	Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.452C>T	20.37:g.56227521G>A	ENSP00000345826:p.Ser151Leu	NA	Q5TDR6|Q96B72|Q9UJD3	37	CCDS13463.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797080	0.90453	.	.	ENSG00000124225	ENST00000341744;ENST00000347215;ENST00000395816;ENST00000265626;ENST00000395814;ENST00000414037;ENST00000395819	T;T;T;T;T;T;T	0.53423	0.78;0.8;0.8;0.8;0.8;0.82;0.62	5.43	5.43	0.79202	.	0.140044	0.48767	D	0.000177	T	0.69233	0.3088	M	0.75777	2.31	0.54753	D	0.999989	D;D	0.89917	1.0;0.997	D;P	0.65773	0.938;0.851	T	0.72484	-0.4279	10	0.72032	D	0.01	-23.06	19.2379	0.93869	0.0:0.0:1.0:0.0	.	116;151	Q5JY37;Q969W9	.;PMEPA_HUMAN	L	151;116;101;101;101;123;208	ENSP00000345826:S151L;ENSP00000344014:S116L;ENSP00000379161:S101L;ENSP00000265626:S101L;ENSP00000379159:S101L;ENSP00000401506:S123L;ENSP00000379164:S208L	ENSP00000265626:S101L	S	-	2	0	PMEPA1	55660927	1.000000	0.71417	0.997000	0.53966	0.864000	0.49448	7.725000	0.84808	2.537000	0.85549	0.655000	0.94253	TCG	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079858.2		-	ENST00000341744.3	Missense_Mutation	SNP	20 : 56227521 - 56227521 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	184	44
ATP6AP1L	92270	broad.mit.edu	37	5	81613867	81613867	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:81613867C>T	ENST00000380167.4	+	10	1748	c.423C>T	c.(421-423)tgC>tgT	p.C141C	ATP6AP1L_ENST00000508366.1_Intron|ATP6AP1L_ENST00000439350.1_Silent_p.C141C			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	141					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	p.C141C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						CCCAAGACTGCGCCTCCTCCT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)						C		0,4406		0,0,2203	97	84	89		423	-6.3	0	5		89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ATP6AP1L	NM_001017971.1		0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077		141/225	81613867	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AK022625	CCDS34196.1	5q14.2	2010-03-10				ENSG00000205464	92270	92270			28091	protein-coding gene	gene with protein product					NA		Standard	NM_001017971	XR_112744	NA	Approved		uc003khw.3	Q52LC2		ENST00000380167.4:c.423C>T	5.37:g.81613867C>T		NA		37	CCDS34196.1																																																																																			ATP6AP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369562.3		+	ENST00000380167.4	Silent	SNP	5 : 81613867 - 81613867 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	367	66
CYP20A1	57404	broad.mit.edu	37	2	204156990	204156990	+	Silent	SNP	C	C	T	rs149090400	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204156990C>T	ENST00000429815.2	+	11	1194	c.1113C>T	c.(1111-1113)ctC>ctT	p.L371L	CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000356079.4_Silent_p.L363L			Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	363						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						CACAGACCCTCGTCCTTTATG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		2,4404	4.2+/-10.8	0,2,2201	174	165	168		1089	-1.8	1	2	dbSNP_134	168	0,8600		0,0,4300	no	coding-synonymous	CYP20A1	NM_177538.2		0,2,6501	TT,TC,CC	NA	0.0,0.0454,0.0154		363/463	204156990	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004	57404	57404		Cytochrome P450s	20576	protein-coding gene	gene with protein product					NA		Standard	NM_020674	NM_177538	NA	Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000429815.2:c.1113C>T	2.37:g.204156990C>T		NA	Q4ZG61|Q8N4Q8|Q8WWA9	37																																																																																				CYP20A1-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000336102.1		+	ENST00000429815.2	Silent	SNP	2 : 204156990 - 204156990 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	805	103
DROSHA	29102	broad.mit.edu	37	5	31468141	31468141	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:31468141C>A	ENST00000511367.2	-	17	2515	c.2271G>T	c.(2269-2271)ctG>ctT	p.L757L	DROSHA_ENST00000513349.1_Silent_p.L720L|DROSHA_ENST00000442743.1_Silent_p.L720L|DROSHA_ENST00000344624.3_Silent_p.L757L	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	757	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GTTCACGATCCAGTTGATCGA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	72	72			NA	NA	5		NA											NA				31468141		1873	4106	5979	SO:0001819	synonymous_variant			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	29102	29102	3.1.26.3		17904	protein-coding gene	gene with protein product	drosha, ribonuclease type III, drosha, double-stranded RNA-specific endoribonuclease	608828	ribonuclease type III, nuclear	RNASEN	NA	10713462, 10948199	Standard	NM_013235	NM_013235	NA	Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.2271G>T	5.37:g.31468141C>A		NA	Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	37	CCDS47195.1																																																																																			DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366561.3		-	ENST00000511367.2	Silent	SNP	5 : 31468141 - 31468141 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	89	15
GREB1	9687	broad.mit.edu	37	2	11756779	11756779	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11756779C>T	ENST00000381486.2	+	21	3645	c.3345C>T	c.(3343-3345)agC>agT	p.S1115S	GREB1_ENST00000234142.5_Silent_p.S1115S|GREB1_ENST00000396123.1_Silent_p.S113S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1115	Ser-rich.					integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AGAAGAGAAGCCCCATGAAAA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(39;850 945 2785 23371 33093)							NA				0													202	223	216			NA	NA	2		NA											NA				11756779		2028	4195	6223	SO:0001819	synonymous_variant				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208	9687	9687			24885	protein-coding gene	gene with protein product	gene regulated by estrogen in breast cancer	611736			NA	11103799	Standard	NM_014668	NM_014668	NA	Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.3345C>T	2.37:g.11756779C>T		NA	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	37	CCDS42655.1																																																																																			GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280490.1		+	ENST00000381486.2	Silent	SNP	2 : 11756779 - 11756779 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1531	185
ZNF180	7733	broad.mit.edu	37	19	44982351	44982351	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44982351G>A	ENST00000221327.4	-	5	628	c.347C>T	c.(346-348)gCa>gTa	p.A116V	ZNF180_ENST00000586637.1_Silent_p.C125C|ZNF180_ENST00000391956.4_Missense_Mutation_p.A91V|ZNF180_ENST00000587047.1_3'UTR|ZNF180_ENST00000592529.1_Missense_Mutation_p.A89V	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	116	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TTTTCCAACTGCAGTTGCCAA	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(180;1353 2003 32862 46574 49854)							NA				0													43	45	44			NA	NA	19		NA											NA				44982351		2201	4298	6499	SO:0001583	missense			AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384	7733	7733		Zinc fingers, C2H2-type, -	12970	protein-coding gene	gene with protein product		606740	zinc finger protein 180 (HHZ168)		NA		Standard	NM_013256	NM_001288762	NA	Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.347C>T	19.37:g.44982351G>A	ENSP00000221327:p.Ala116Val	NA	B2RCN6|Q9P1U2	37	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	G	0.365	-0.937103	0.02340	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.00776	5.71;5.71	5.16	-1.2	0.09554	Krueppel-associated box (3);	0.363501	0.20122	N	0.098791	T	0.00468	0.0015	N	0.16266	0.395	0.09310	N	1	B;B;B	0.12630	0.006;0.004;0.004	B;B;B	0.16289	0.015;0.006;0.006	T	0.47446	-0.9117	10	0.25106	T	0.35	-1.1964	1.0527	0.01583	0.2778:0.154:0.4105:0.1578	.	91;115;116	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	V	116;91	ENSP00000221327:A116V;ENSP00000375818:A91V	ENSP00000221327:A116V	A	-	2	0	ZNF180	49674191	0.001000	0.12720	0.017000	0.16124	0.043000	0.13939	0.420000	0.21263	0.037000	0.15575	0.655000	0.94253	GCA	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451601.1		-	ENST00000221327.4	Missense_Mutation	SNP	19 : 44982351 - 44982351 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	47
BCDIN3D	144233	broad.mit.edu	37	12	50232651	50232651	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50232651C>T	ENST00000333924.4	-	2	423	c.382G>A	c.(382-384)Gcc>Acc	p.A128T	BCDIN3D-AS1_ENST00000548872.1_RNA|BCDIN3D-AS1_ENST00000549124.1_RNA	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	128	Bin3-type SAM.						methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						AAAGTCAAGGCATCAGGAAAA	0.468		NA									OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	96	96			NA	NA	12		NA											NA				50232651		2203	4300	6503	SO:0001583	missense				CCDS8790.1	12q13.13	2008-03-12				ENSG00000186666	144233	144233			27050	protein-coding gene	gene with protein product					NA		Standard	NM_181708	NM_181708	NA	Approved		uc001rvh.3	Q7Z5W3	OTTHUMG00000169807	ENST00000333924.4:c.382G>A	12.37:g.50232651C>T	ENSP00000335201:p.Ala128Thr	968	A8K829	37	CCDS8790.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287015	0.23478	.	.	ENSG00000186666	ENST00000333924	T	0.46063	0.88	5.57	5.57	0.84162	Bin3-type S-adenosyl-L-methionine binding domain (1);	0.404823	0.30704	N	0.009056	T	0.36991	0.0987	L	0.58101	1.795	0.80722	D	1	B	0.32245	0.361	B	0.26969	0.075	T	0.12319	-1.0552	10	0.30078	T	0.28	.	12.3707	0.55254	0.1683:0.8316:0.0:0.0	.	128	Q7Z5W3	BN3D2_HUMAN	T	128	ENSP00000335201:A128T	ENSP00000335201:A128T	A	-	1	0	BCDIN3D	48518918	0.996000	0.38824	1.000000	0.80357	0.872000	0.50106	2.785000	0.47782	2.785000	0.95823	0.591000	0.81541	GCC	BCDIN3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405982.1		-	ENST00000333924.4	Missense_Mutation	SNP	12 : 50232651 - 50232651 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	505	65
GTF2H1	2965	broad.mit.edu	37	11	18387396	18387396	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18387396C>T	ENST00000265963.4	+	15	1787	c.1627C>T	c.(1627-1629)Cgt>Tgt	p.R543C	GTF2H1_ENST00000526630.2_Missense_Mutation_p.R133C|GTF2H1_ENST00000453096.2_Missense_Mutation_p.R543C|GTF2H1_ENST00000534641.1_Missense_Mutation_p.R427C|GTF2H1_ENST00000530496.2_Missense_Mutation_p.R231C	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	543					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						GCAGTCACGGCGTCTGATGAA	0.483		NA						Nucleotide excision repair (NER)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	122	130			NA	NA	11		NA											NA				18387396		2199	4293	6492	SO:0001583	missense				CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768	2965	2965		General transcription factors, General transcription factor IIH complex subunits	4655	protein-coding gene	gene with protein product		189972	general transcription factor IIH, polypeptide 1 (62kD subunit)		NA	1529339, 8162052	Standard	NM_005316	NM_005316	NA	Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.1627C>T	11.37:g.18387396C>T	ENSP00000265963:p.Arg543Cys	NA	D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	37	CCDS7838.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171966	0.78452	.	.	ENSG00000110768	ENST00000453096;ENST00000534641;ENST00000265963;ENST00000530496;ENST00000526630	T;T;T;T;T	0.55588	1.66;1.66;1.66;0.55;0.51	5.95	5.03	0.67393	.	0.100411	0.64402	D	0.000001	T	0.66489	0.2794	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67898	-0.5551	10	0.87932	D	0	-3.5832	15.5679	0.76309	0.0:0.9331:0.0:0.0669	.	543	P32780	TF2H1_HUMAN	C	543;427;543;231;133	ENSP00000393638:R543C;ENSP00000435375:R427C;ENSP00000265963:R543C;ENSP00000433133:R231C;ENSP00000439774:R133C	ENSP00000265963:R543C	R	+	1	0	GTF2H1	18343972	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.934000	0.75880	2.824000	0.97209	0.655000	0.94253	CGT	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395627.2		+	ENST00000265963.4	Missense_Mutation	SNP	11 : 18387396 - 18387396 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	185	28
CHN2	1124	broad.mit.edu	37	7	29552224	29552224	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:29552224T>G	ENST00000410098.1	+	0	786				CHN2_ENST00000495789.2_Missense_Mutation_p.L440R|CHN2_ENST00000424025.2_Missense_Mutation_p.L246R|CHN2_ENST00000435288.2_Missense_Mutation_p.L151R|CHN2_ENST00000546235.1_Missense_Mutation_p.L412R|CHN2_ENST00000539406.1_Missense_Mutation_p.L502R|CHN2_ENST00000421775.2_Missense_Mutation_p.L233R|CHN2_ENST00000409041.4_Missense_Mutation_p.L291R|CHN2_ENST00000539389.1_Missense_Mutation_p.L283R|CHN2_ENST00000439711.2_Missense_Mutation_p.L245R|CHN2_ENST00000222792.6_Missense_Mutation_p.L427R			P52757	CHIO_HUMAN	chimerin 2	NA					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GCAGAAAATCTGGGGATCGTG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(1;44 48 13232 18918 31480)							NA				0													91	93	92			NA	NA	7		NA											NA				29552224		2203	4300	6503	SO:0001624	3_prime_UTR_variant			L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069	1124	1124		Rho GTPase activating proteins, SH2 domain containing	1944	protein-coding gene	gene with protein product	beta chimerin, chimaerin 2	602857	chimerin (chimaerin) 2		NA	8175705	Standard	NM_004067	XM_005249602	NA	Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000410098.1:c.*783T>G	7.37:g.29552224T>G		NA	Q2M203|Q75MM2	37		.	.	.	.	.	.	.	.	.	.	T	21.4	4.149759	0.78001	.	.	ENSG00000106069	ENST00000539406;ENST00000222792;ENST00000435288;ENST00000495789;ENST00000539389;ENST00000546235;ENST00000409041;ENST00000424025;ENST00000439711;ENST00000421775	T;T;T;T;T;T;T;T;T;T	0.57907	0.51;0.51;0.37;0.51;0.51;0.51;0.51;0.51;0.51;0.51	5.41	5.41	0.78517	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.068865	0.64402	D	0.000011	D	0.84188	0.5417	H	0.99312	4.51	0.80722	D	1	D;D;D;D;D;P;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.999;1.0;0.763;1.0;1.0;1.0;1.0;1.0;0.998;1.0;0.998	D;D;D;D;D;P;D;D;D;D;D;D;D;D	0.91635	0.997;0.997;0.917;0.918;0.992;0.582;0.998;0.999;0.998;0.999;0.998;0.917;0.992;0.917	D	0.90959	0.4811	10	0.87932	D	0	.	15.4009	0.74841	0.0:0.0:0.0:1.0	.	220;412;440;502;246;200;219;187;245;233;283;427;291;427	B7Z215;B7Z1W9;B7Z1V0;F5H003;B3VCF1;B3VCF2;B3VCF5;B3VCF4;B3VCF7;B3VCF3;B3VCG1;A4D1A2;E9PGE0;P52757	.;.;.;.;.;.;.;.;.;.;.;.;.;CHIO_HUMAN	R	502;427;151;440;283;412;291;246;245;233	ENSP00000444063:L502R;ENSP00000222792:L427R;ENSP00000400282:L151R;ENSP00000438587:L440R;ENSP00000440526:L283R;ENSP00000442812:L412R;ENSP00000386849:L291R;ENSP00000406337:L246R;ENSP00000387425:L245R;ENSP00000394284:L233R	ENSP00000222792:L427R	L	+	2	0	CHN2	29518749	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	7.997000	0.88414	2.179000	0.69175	0.528000	0.53228	CTG	CHN2-004	KNOWN	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000327538.1		+	ENST00000410098.1	3'UTR	SNP	7 : 29552224 - 29552224 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	77
HTR5A	3361	broad.mit.edu	37	7	154863276	154863276	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:154863276A>T	ENST00000287907.2	+	1	1243	c.667A>T	c.(667-669)Atc>Ttc	p.I223F		NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	223						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GTACTGGAAGATCTACAAGGC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	75	77			NA	NA	7		NA											NA				154863276		2203	4300	6503	SO:0001583	missense				CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219	3361	3361		5-HT (serotonin) receptors, GPCR / Class A : 5-HT (serotonin) receptors, GPCR only	5300	protein-coding gene	gene with protein product		601305	5-hydroxytryptamine (serotonin) receptor 5A		NA	7988681	Standard	NM_024012	NM_024012	NA	Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.667A>T	7.37:g.154863276A>T	ENSP00000287907:p.Ile223Phe	NA	Q2M2D2	37	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.270334	0.80469	.	.	ENSG00000157219	ENST00000287907	T	0.57436	0.4	4.76	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	0.048431	0.85682	D	0.000000	T	0.79375	0.4435	H	0.97564	4.03	0.80722	D	1	D	0.67145	0.996	D	0.68943	0.961	T	0.83349	-0.0004	10	0.87932	D	0	.	10.1703	0.42906	0.9222:0.0:0.0778:0.0	.	223	P47898	5HT5A_HUMAN	F	223	ENSP00000287907:I223F	ENSP00000287907:I223F	I	+	1	0	HTR5A	154494209	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.800000	0.69108	0.874000	0.35823	0.528000	0.53228	ATC	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322240.1		+	ENST00000287907.2	Missense_Mutation	SNP	7 : 154863276 - 154863276 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	267	38
GRIN2D	2906	broad.mit.edu	37	19	48945465	48945465	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48945465C>T	ENST00000263269.3	+	12	2587	c.2499C>T	c.(2497-2499)atC>atT	p.I833I		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	833						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	ATGACAAAATCGAGGTGATGA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	151	153			NA	NA	19		NA											NA				48945465		2203	4300	6503	SO:0001819	synonymous_variant			U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464	2906	2906		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4588	protein-coding gene	gene with protein product	N-methyl-d-aspartate receptor subunit 2D	602717		NMDAR2D	NA	9480759, 9418891	Standard		NM_000836	NA	Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.2499C>T	19.37:g.48945465C>T		NA		37	CCDS12719.1																																																																																			GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466121.1		+	ENST00000263269.3	Silent	SNP	19 : 48945465 - 48945465 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	928	216
IFIT5	24138	broad.mit.edu	37	10	91177557	91177557	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91177557C>G	ENST00000371795.4	+	2	814	c.601C>G	c.(601-603)Ctg>Gtg	p.L201V	IFIT5_ENST00000416601.1_Intron	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	201							binding			endometrium(1)|large_intestine(4)|lung(4)	9						GAGCTTTTCTCTGGGGCCTTT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	76	74			NA	NA	10		NA											NA				91177557		2203	4300	6503	SO:0001583	missense			U34605	CCDS7403.1	10q23.31	2013-01-10			ENSG00000152778	ENSG00000152778	24138	24138		Tetratricopeptide (TTC) repeat domain containing	13328	protein-coding gene	gene with protein product	retinoic acid- and interferon-inducible protein (58kD)				NA	9398535	Standard	NM_012420	NM_012420	NA	Approved	RI58	uc010qnh.2	Q13325	OTTHUMG00000018713	ENST00000371795.4:c.601C>G	10.37:g.91177557C>G	ENSP00000360860:p.Leu201Val	NA	Q5T7I9	37	CCDS7403.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.835418	0.50951	.	.	ENSG00000152778	ENST00000371795	T	0.48836	0.8	6.03	4.14	0.48551	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.274754	0.36101	N	0.002795	T	0.37571	0.1008	L	0.37507	1.11	0.80722	D	1	P	0.48503	0.911	B	0.43838	0.433	T	0.07539	-1.0767	10	0.31617	T	0.26	-4.439	8.7594	0.34665	0.0:0.7657:0.0:0.2343	.	201	Q13325	IFIT5_HUMAN	V	201	ENSP00000360860:L201V	ENSP00000360860:L201V	L	+	1	2	IFIT5	91167537	0.002000	0.14202	0.985000	0.45067	0.992000	0.81027	-0.242000	0.08928	0.832000	0.34804	0.655000	0.94253	CTG	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049303.1		+	ENST00000371795.4	Missense_Mutation	SNP	10 : 91177557 - 91177557 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	451	93
BRD4	23476	broad.mit.edu	37	19	15383882	15383882	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15383882C>A	ENST00000263377.2	-	2	250	c.29G>T	c.(28-30)aGa>aTa	p.R10I	BRD4_ENST00000360016.5_Missense_Mutation_p.R10I|BRD4_ENST00000371835.4_Missense_Mutation_p.R10I	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	10					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			ATTTCTCAATCTCGTCCCAGG	0.552		NA	T	C15orf55	lethal midline carcinoma of young people									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0													95	96	96			NA	NA	19		NA											NA				15383882		2203	4300	6503	SO:0001583	missense			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867	23476	23476			13575	protein-coding gene	gene with protein product	chromosome-associated protein	608749	bromodomain-containing 4		NA	10938129	Standard	NM_058243	NM_058243	NA	Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.29G>T	19.37:g.15383882C>A	ENSP00000263377:p.Arg10Ile	NA	O60433|Q86YS8|Q96PD3	37	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587167	0.86851	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.50813	0.73;2.65;2.48	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000001	T	0.61739	0.2371	L	0.58101	1.795	0.80722	D	1	D;P;D	0.59767	0.986;0.886;0.982	P;P;P	0.56278	0.731;0.475;0.795	T	0.64394	-0.6418	10	0.87932	D	0	-17.1711	18.2814	0.90099	0.0:1.0:0.0:0.0	.	10;10;10	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	I	10	ENSP00000263377:R10I;ENSP00000360901:R10I;ENSP00000353112:R10I	ENSP00000263377:R10I	R	-	2	0	BRD4	15244882	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.649000	0.61433	2.627000	0.88993	0.561000	0.74099	AGA	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465800.3		-	ENST00000263377.2	Missense_Mutation	SNP	19 : 15383882 - 15383882 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	776	92
ZNF267	10308	broad.mit.edu	37	16	31925867	31925867	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31925867A>G	ENST00000300870.10	+	4	506	c.297A>G	c.(295-297)atA>atG	p.I99M	ZNF267_ENST00000394846.3_3'UTR	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	99					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAAAAGTGATATCGAGGAGAC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	93	94			NA	NA	16		NA											NA				31925867		2197	4300	6497	SO:0001583	missense			X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947	10308	10308		Zinc fingers, C2H2-type, -	13060	protein-coding gene	gene with protein product		604752			NA	7865130	Standard	NM_003414	NM_003414	NA	Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.297A>G	16.37:g.31925867A>G	ENSP00000300870:p.Ile99Met	NA	A0JNZ9|Q8NE41|Q9NRJ0	37	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	3.370	-0.128715	0.06753	.	.	ENSG00000185947	ENST00000300870;ENST00000394846	T	0.08102	3.13	0.593	-1.19	0.09585	.	.	.	.	.	T	0.08980	0.0222	L	0.41492	1.28	0.09310	N	1	P	0.51240	0.943	P	0.52598	0.703	T	0.19289	-1.0310	9	0.24483	T	0.36	.	1.5643	0.02601	0.3561:0.3213:0.0:0.3226	.	99	Q14586	ZN267_HUMAN	M	99;66	ENSP00000300870:I99M	ENSP00000300870:I99M	I	+	3	3	ZNF267	31833368	0.019000	0.18553	0.001000	0.08648	0.015000	0.08874	-0.489000	0.06490	-0.548000	0.06199	0.254000	0.18369	ATA	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432446.2		+	ENST00000300870.10	Missense_Mutation	SNP	16 : 31925867 - 31925867 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	521	113
NTRK1	4914	broad.mit.edu	37	1	156849945	156849945	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156849945C>T	ENST00000368196.3	+	15	2303	c.2183C>T	c.(2182-2184)aCg>aTg	p.T728M	NTRK1_ENST00000392302.2_Missense_Mutation_p.T698M|NTRK1_ENST00000524377.1_Missense_Mutation_p.T734M|NTRK1_ENST00000358660.3_Missense_Mutation_p.T731M|NTRK1_ENST00000531606.1_3'UTR	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	734	Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CTCTCCAACACGGAGGTCAGC	0.622		NA	T	TPM3, TPR, TFG	papillary thyroid					TSP Lung(10;0.080)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1q21-q22	4914	neurotrophic tyrosine kinase, receptor, type 1		E	0													71	66	67			NA	NA	1		NA											NA				156849945		2203	4300	6503	SO:0001583	missense			Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	4914	4914	2.7.10.1	Immunoglobulin superfamily / Immunoglobulin-like domain containing	8031	protein-coding gene	gene with protein product	high affinity nerve growth factor receptor	191315			NA	2869410	Standard	NM_002529	NM_001007792	NA	Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000368196.3:c.2183C>T	1.37:g.156849945C>T	ENSP00000357179:p.Thr728Met	NA	B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	37	CCDS30891.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762238	0.49468	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	4.08	4.08	0.47627	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.108957	0.40908	D	0.000983	T	0.78407	0.4278	N	0.12502	0.225	0.45318	D	0.998313	P;B;D;D	0.89917	0.539;0.256;0.999;1.0	B;B;P;D	0.72075	0.164;0.041;0.807;0.976	T	0.82376	-0.0488	10	0.48119	T	0.1	.	15.3924	0.74755	0.0:1.0:0.0:0.0	.	731;728;734;698	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	M	698;728;734;731	ENSP00000376120:T698M;ENSP00000357179:T728M;ENSP00000431418:T734M;ENSP00000351486:T731M	ENSP00000351486:T731M	T	+	2	0	NTRK1	155116569	0.083000	0.21467	0.992000	0.48379	0.801000	0.45260	0.449000	0.21744	2.273000	0.75805	0.561000	0.74099	ACG	NTRK1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000098979.1		+	ENST00000368196.3	Missense_Mutation	SNP	1 : 156849945 - 156849945 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	517	76
XPO1	7514	broad.mit.edu	37	2	61715367	61715367	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61715367C>T	ENST00000401558.2	-	19	2973	c.2246G>A	c.(2245-2247)cGa>cAa	p.R749Q	XPO1_ENST00000404992.2_Missense_Mutation_p.R749Q|XPO1_ENST00000406957.1_Missense_Mutation_p.R749Q	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	749					intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding	p.R749Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TTTTACAGTTCGCATACTTCT	0.363		NA	Mis		CLL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			-'	Dom	yes		2	2p15	7514	exportin 1 (CRM1 homolog, yeast)		L	1	Substitution - Missense(1)	large_intestine(1)											145	142	143			NA	NA	2		NA											NA				61715367		2203	4300	6503	SO:0001583	missense			Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898	7514	7514		Exportins	12825	protein-coding gene	gene with protein product	chromosome region maintenance 1 homolog (yeast)	602559	exportin 1 (CRM1, yeast, homolog), exportin 1 (CRM1 homolog, yeast)		NA	9205132, 9368044	Standard	NM_003400	XM_005264544	NA	Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.2246G>A	2.37:g.61715367C>T	ENSP00000384863:p.Arg749Gln	NA	A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	37	CCDS33205.1	.	.	.	.	.	.	.	.	.	.	C	36	5.761877	0.96906	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	.	.	.	5.46	5.46	0.80206	Armadillo-like helical (1);Armadillo-type fold (2);Exportin 1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85622	0.5739	M	0.92970	3.365	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.65874	0.925;0.939	D	0.86494	0.1799	9	0.40728	T	0.16	-11.0536	19.6691	0.95903	0.0:1.0:0.0:0.0	.	396;749	B3KWD0;O14980	.;XPO1_HUMAN	Q	749	.	ENSP00000384863:R749Q	R	-	2	0	XPO1	61568871	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.767000	0.85331	2.721000	0.93114	0.591000	0.81541	CGA	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325872.3		-	ENST00000401558.2	Missense_Mutation	SNP	2 : 61715367 - 61715367 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	659	85
STEAP3	55240	broad.mit.edu	37	2	119988594	119988594	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:119988594G>A	ENST00000393110.2	+	2	457	c.6G>A	c.(4-6)tcG>tcA	p.S2S	STEAP3_ENST00000450943.2_5'UTR|STEAP3_ENST00000393108.2_Intron|STEAP3_ENST00000393106.2_Intron|STEAP3_ENST00000409811.1_Intron|STEAP3_ENST00000354888.5_5'UTR|STEAP3_ENST00000393107.2_Intron			Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	0					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GCCGGATGTCGCACCAGCCTG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	84	79			NA	NA	2		NA											NA				119988594		2140	4233	6373	SO:0001819	synonymous_variant			AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107	55240	55240			24592	protein-coding gene	gene with protein product		609671			NA	12606722	Standard	NM_018234	NM_182915	NA	Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000393110.2:c.6G>A	2.37:g.119988594G>A		NA	A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	37	CCDS42738.1																																																																																			STEAP3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254192.1		+	ENST00000393110.2	Silent	SNP	2 : 119988594 - 119988594 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	261	13
CDC73	79577	broad.mit.edu	37	1	193111038	193111038	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:193111038G>A	ENST00000367435.3	+	7	755	c.571G>A	c.(571-573)Gct>Act	p.A191T		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	191					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						CAAAATTATGGCTAAGAAAAG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	56	59			NA	NA	1		NA											NA				193111038		2203	4300	6503	SO:0001583	missense			AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371	79577	79577			16783	protein-coding gene	gene with protein product	Paf1/RNA polymerase II complex component	607393	chromosome 1 open reading frame 28, hyperparathyroidism 2 (with jaw tumor), cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae), hyperparathyroidism 1	C1orf28, HRPT2, HRPT1	NA	11318611, 15632063, 18755853	Standard	NM_024529	NM_024529	NA	Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.571G>A	1.37:g.193111038G>A	ENSP00000356405:p.Ala191Thr	NA	A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	37	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093681	0.76870	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	D	0.86030	-2.06	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.86908	0.6046	M	0.79805	2.47	0.80722	D	1	B	0.21520	0.057	B	0.21708	0.036	T	0.81872	-0.0733	10	0.23891	T	0.37	-18.9726	20.5568	0.99304	0.0:0.0:1.0:0.0	.	191	Q6P1J9	CDC73_HUMAN	T	191	ENSP00000356405:A191T	ENSP00000356405:A191T	A	+	1	0	CDC73	191377661	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.623000	0.98386	2.861000	0.98227	0.655000	0.94253	GCT	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086696.2		+	ENST00000367435.3	Missense_Mutation	SNP	1 : 193111038 - 193111038 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	186	36
ARMC6	93436	broad.mit.edu	37	19	19168365	19168365	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19168365C>T	ENST00000546344.1	+	6	1473	c.1155C>T	c.(1153-1155)gcC>gcT	p.A385A	ARMC6_ENST00000392336.3_Silent_p.A478A|ARMC6_ENST00000269932.6_Silent_p.A453A|ARMC6_ENST00000535612.1_Silent_p.A478A|ARMC6_ENST00000392335.2_Silent_p.A453A			Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	478							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CCAAGGCCGCCCTGCGGGACC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	57	57			NA	NA	19		NA											NA				19168365		2203	4299	6502	SO:0001819	synonymous_variant			BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676	93436	93436		Armadillo repeat containing	25049	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_033415	NM_033415	NA	Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000546344.1:c.1155C>T	19.37:g.19168365C>T		NA	B4DI98|O94999|Q9BTH5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.354|3.354	-0.131862|-0.131862	0.06753|0.06753	.|.	.|.	ENSG00000105676|ENSG00000105676	ENST00000379532|ENST00000535478;ENST00000540634	.|.	.|.	.|.	4.09|4.09	1.73|1.73	0.24493|0.24493	.|.	.|.	.|.	.|.	.|.	T|T	0.53690|0.53690	0.1812|0.1812	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.42732|0.42732	-0.9434|-0.9434	5|4	0.46703|.	T|.	0.11|.	-19.4935|-19.4935	6.1867|6.1867	0.20502|0.20502	0.4011:0.5041:0.0:0.0947|0.4011:0.5041:0.0:0.0947	.|.	.|.	.|.	.|.	L|S	388|122;58	.|.	ENSP00000368847:P388L|.	P|P	+|+	2|1	0|0	ARMC6|ARMC6	19029365|19029365	0.080000|0.080000	0.21391|0.21391	0.981000|0.981000	0.43875|0.43875	0.223000|0.223000	0.24884|0.24884	-0.182000|-0.182000	0.09726|0.09726	0.337000|0.337000	0.23665|0.23665	0.555000|0.555000	0.69702|0.69702	CCC|CCT	ARMC6-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000403231.1		+	ENST00000546344.1	Silent	SNP	19 : 19168365 - 19168365 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	88
NBEA	26960	broad.mit.edu	37	13	35615281	35615281	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:35615281C>A	ENST00000379939.2	+	2	667	c.506C>A	c.(505-507)gCt>gAt	p.A169D	NBEA_ENST00000400445.3_Missense_Mutation_p.A169D|NBEA_ENST00000540320.1_Missense_Mutation_p.A169D|NBEA_ENST00000310336.4_Missense_Mutation_p.A169D			Q8NFP9	NBEA_HUMAN	neurobeachin	169						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AAAATGAGTGCTGTAGATGAC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	54	55			NA	NA	13		NA											NA				35615281		1885	4121	6006	SO:0001583	missense			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915	26960	26960		A-kinase anchor proteins, WD repeat domain containing	7648	protein-coding gene	gene with protein product		604889			NA	10501977	Standard	NM_015678	NM_015678	NA	Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000379939.2:c.506C>A	13.37:g.35615281C>A	ENSP00000369271:p.Ala169Asp	NA	Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	37		.	.	.	.	.	.	.	.	.	.	C	15.99	2.994515	0.54041	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.33	5.33	0.75918	.	0.134557	0.51477	D	0.000096	T	0.35307	0.0927	N	0.17474	0.49	0.80722	D	1	B	0.22276	0.067	B	0.17433	0.018	T	0.08391	-1.0724	10	0.30078	T	0.28	.	19.0467	0.93022	0.0:1.0:0.0:0.0	.	169	Q5T321	.	D	169	ENSP00000440951:A169D;ENSP00000383295:A169D;ENSP00000369271:A169D;ENSP00000308534:A169D	ENSP00000308534:A169D	A	+	2	0	NBEA	34513281	0.998000	0.40836	1.000000	0.80357	0.977000	0.68977	3.337000	0.52120	2.496000	0.84212	0.585000	0.79938	GCT	NBEA-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000044460.1		+	ENST00000379939.2	Missense_Mutation	SNP	13 : 35615281 - 35615281 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	177	12
VWA7	80737	broad.mit.edu	37	6	31735240	31735240	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31735240C>T	ENST00000375688.4	-	12	1888	c.1688G>A	c.(1687-1689)cGc>cAc	p.R563H	VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Missense_Mutation_p.R563H|VWA7_ENST00000375686.3_Missense_Mutation_p.R563H			Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	563						extracellular region					NA						CTGCCCAAAGCGGCGAGTGTG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG	0,3022		0,0,1511	83	89	87		1688	2.3	0.5	6		87	1,5417		0,1,2708	no	missense	C6orf27	NM_025258.2	29	0,1,4219	TT,TC,CC	NA	0.0185,0.0,0.0118	benign	563/892	31735240	1,8439	1511	2709	4220	SO:0001583	missense				CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396	80737	80737			13939	protein-coding gene	gene with protein product		609693	chromosome 6 open reading frame 27	C6orf27	NA		Standard	NM_025258	NM_025258	NA	Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.1688G>A	6.37:g.31735240C>T	ENSP00000364840:p.Arg563His	NA	A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	37	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	C	10.26	1.300019	0.23650	0.0	1.85E-4	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	T;T;T	0.31510	2.7;2.48;1.49	5.04	2.32	0.28847	.	0.757532	0.12563	N	0.457977	T	0.09024	0.0223	L	0.38838	1.175	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.32348	-0.9910	10	0.48119	T	0.1	-0.848	7.0157	0.24887	0.0:0.7186:0.0:0.2814	.	563	Q9Y334	G7C_HUMAN	H	563	ENSP00000364840:R563H;ENSP00000364838:R563H;ENSP00000390554:R563H	ENSP00000364838:R563H	R	-	2	0	C6orf27	31843219	0.013000	0.17824	0.504000	0.27639	0.619000	0.37552	1.234000	0.32660	0.312000	0.23038	-0.291000	0.09656	CGC	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076233.2		-	ENST00000375688.4	Missense_Mutation	SNP	6 : 31735240 - 31735240 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	522	111
PTPN13	5783	broad.mit.edu	37	4	87637706	87637706	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:87637706T>C	ENST00000427191.2	+	8	1699	c.1219T>C	c.(1219-1221)Tat>Cat	p.Y407H	PTPN13_ENST00000436978.1_Missense_Mutation_p.Y407H|PTPN13_ENST00000316707.6_Missense_Mutation_p.Y407H|PTPN13_ENST00000411767.2_Missense_Mutation_p.Y407H|PTPN13_ENST00000511467.1_Missense_Mutation_p.Y407H	NM_006264.2	NP_006255.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	407						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ATACAAAACTTATCATGGTGA	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	75	77			NA	NA	4		NA											NA				87637706		1811	4084	5895	SO:0001583	missense				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629	NA	5783		Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor	9646	protein-coding gene	gene with protein product		600267			NA	8287977	Standard		NM_006264	NA	Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000427191.2:c.1219T>C	4.37:g.87637706T>C	ENSP00000408368:p.Tyr407His	NA	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	37	CCDS47095.1	.	.	.	.	.	.	.	.	.	.	T	14.08	2.429610	0.43122	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.59364	0.27;0.31;0.42;0.28;0.31	5.27	4.09	0.47781	.	0.165491	0.28510	N	0.015093	T	0.63581	0.2523	M	0.67953	2.075	0.44042	D	0.996777	P;P;P;P	0.49961	0.828;0.915;0.93;0.915	P;P;P;P	0.53360	0.632;0.724;0.665;0.724	T	0.59794	-0.7387	10	0.22109	T	0.4	.	11.166	0.48543	0.0:0.0728:0.0:0.9272	.	407;407;407;407	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	H	407;407;407;407;407;375	ENSP00000408368:Y407H;ENSP00000394794:Y407H;ENSP00000322675:Y407H;ENSP00000407249:Y407H;ENSP00000426626:Y407H	ENSP00000322675:Y407H	Y	+	1	0	PTPN13	87856730	1.000000	0.71417	1.000000	0.80357	0.160000	0.22226	5.344000	0.65981	0.961000	0.38030	-0.380000	0.06706	TAT	PTPN13-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363189.1		+	ENST00000427191.2	Missense_Mutation	SNP	4 : 87637706 - 87637706 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	61	6
SPPL2C	162540	broad.mit.edu	37	17	43923646	43923646	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43923646C>T	ENST00000329196.5	+	1	1391	c.1374C>T	c.(1372-1374)taC>taT	p.Y458Y	MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000579599.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	458						integral to membrane	aspartic-type endopeptidase activity				NA						TGGTTGCTTACTGTTGCCGCT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	117	129			NA	NA	17		NA											NA				43923646		2203	4300	6503	SO:0001819	synonymous_variant				CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294	162540	162540			28902	protein-coding gene	gene with protein product	intramembrane protease 5	608284			NA	12139484	Standard	NM_175882	NM_175882	NA	Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.1374C>T	17.37:g.43923646C>T		NA	Q8TC67|Q8WVZ6	37	CCDS32673.1																																																																																			SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000441156.1		+	ENST00000329196.5	Silent	SNP	17 : 43923646 - 43923646 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	578	98
LAMB4	22798	broad.mit.edu	37	7	107743565	107743565	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107743565C>T	ENST00000388781.3	-	10	1187	c.1104G>A	c.(1102-1104)ggG>ggA	p.G368G	LAMB4_ENST00000205386.4_Silent_p.G368G|LAMB4_ENST00000418464.1_Silent_p.G368G|LAMB4_ENST00000388780.3_Silent_p.G368G|LAMB4_ENST00000414450.2_Silent_p.G368G	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	368	Laminin EGF-like 2.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CGCAGTGCTGCCCCTCAGTGT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	51	55			NA	NA	7		NA											NA				107743565		2203	4300	6503	SO:0001819	synonymous_variant			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128	22798	22798		Laminins	6491	protein-coding gene	gene with protein product					NA		Standard	XM_209857	NM_007356	NA	Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.1104G>A	7.37:g.107743565C>T		NA	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	37	CCDS34732.1																																																																																			LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337442.1		-	ENST00000388781.3	Silent	SNP	7 : 107743565 - 107743565 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	169	30
MTG2	26164	broad.mit.edu	37	20	60768660	60768660	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60768660C>T	ENST00000370823.3	+	2	202	c.184C>T	c.(184-186)Ctg>Ttg	p.L62L	MTG2_ENST00000436421.2_Silent_p.L62L|MTG2_ENST00000536470.1_Intron	NM_015666.3	NP_056481.1			mitochondrial ribosome-associated GTPase 2	NA											NA						GGGGAAGAAGCTGCTCTCTGA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	31	31			NA	NA	20		NA											NA				60768660		2202	4300	6502	SO:0001819	synonymous_variant			AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181	26164	26164			16239	protein-coding gene	gene with protein product		610919	GTP-binding protein 5 (putative), GTP binding protein 5 (putative)	GTPBP5	NA	17054726, 23396448	Standard	NM_015666	NM_015666	NA	Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.184C>T	20.37:g.60768660C>T		NA		37	CCDS13492.1																																																																																			MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079989.1		+	ENST00000370823.3	Silent	SNP	20 : 60768660 - 60768660 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	168	33
GBA2	57704	broad.mit.edu	37	9	35740847	35740847	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35740847G>A	ENST00000378094.4	-	5	1514	c.1001C>T	c.(1000-1002)aCg>aTg	p.T334M	GBA2_ENST00000378103.3_Missense_Mutation_p.T334M|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000545786.1_Missense_Mutation_p.T340M			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	334					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CACAGCCATCGTGTAGGGGTT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	79	81			NA	NA	9		NA											NA				35740847		2203	4300	6503	SO:0001583	missense			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610	57704	57704			18986	protein-coding gene	gene with protein product	bile acid beta-glucosidase, non-lysosomal glucosylceramidase	609471	spastic paraplegia 46 (autosomal recessive)	SPG46	NA	11489889, 23332916, 23332917	Standard	NM_020944	NM_020944	NA	Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378094.4:c.1001C>T	9.37:g.35740847G>A	ENSP00000367334:p.Thr334Met	NA	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	37		.	.	.	.	.	.	.	.	.	.	G	28.7	4.940697	0.92526	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	5.81	5.81	0.92471	Beta-glucosidase, GBA2 type, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86506	0.5949	M	0.91196	3.185	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.87969	0.2735	9	0.59425	D	0.04	-14.4858	20.0787	0.97763	0.0:0.0:1.0:0.0	.	340;334;334	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	M	334;334;340	.	ENSP00000367334:T334M	T	-	2	0	GBA2	35730847	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	7.800000	0.85949	2.757000	0.94681	0.462000	0.41574	ACG	GBA2-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000055458.1		-	ENST00000378094.4	Missense_Mutation	SNP	9 : 35740847 - 35740847 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	377	76
LPPR1	0	broad.mit.edu	37	9	104071653	104071653	+	Missense_Mutation	SNP	T	T	G	rs139319180		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104071653T>G	ENST00000374874.3	+	5	985	c.546T>G	c.(544-546)tgT>tgG	p.C182W	LPPR1_ENST00000395056.2_Missense_Mutation_p.C182W	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		182						integral to membrane	catalytic activity				NA						GGAACATTTGTACTGGGGACC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	86	88			NA	NA	9		NA											NA				104071653		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000374874.3:c.546T>G	9.37:g.104071653T>G	ENSP00000364008:p.Cys182Trp	NA	Q5VX23|Q9NXE2	37	CCDS6751.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.765742	0.69878	.	.	ENSG00000148123	ENST00000374874;ENST00000374871;ENST00000395056	T;T	0.76968	-1.06;-1.06	5.32	-8.08	0.01094	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90317	0.6971	H	0.96518	3.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.90954	0.4807	10	0.87932	D	0	-6.3471	21.8754	0.99962	0.0:0.8477:0.0:0.1523	.	166;182	B7Z8P4;Q8TBJ4	.;LPPR1_HUMAN	W	182	ENSP00000364008:C182W;ENSP00000378496:C182W	ENSP00000364005:C182W	C	+	3	2	RP11-35N6.1	103111474	0.934000	0.31675	0.180000	0.23079	0.970000	0.65996	0.094000	0.15107	-1.516000	0.01782	-0.353000	0.07706	TGT	LPPR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053425.1		+	ENST00000374874.3	Missense_Mutation	SNP	9 : 104071653 - 104071653 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	455	65
ZNF407	55628	broad.mit.edu	37	18	72343146	72343146	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72343146G>A	ENST00000299687.5	+	1	171	c.171G>A	c.(169-171)tcG>tcA	p.S57S	ZNF407_ENST00000582337.1_Silent_p.S57S|ZNF407_ENST00000577538.1_Silent_p.S57S|ZNF407_ENST00000309902.6_Silent_p.S57S	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	57					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S57S(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CAGAATCATCGAACTCTGATA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											91	89	90			NA	NA	18		NA											NA				72343146		1841	4084	5925	SO:0001819	synonymous_variant			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421	55628	55628		Zinc fingers, C2H2-type	19904	protein-coding gene	gene with protein product		615894			NA	11214970	Standard	NM_017757	NM_017757	NA	Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.171G>A	18.37:g.72343146G>A		NA	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	37	CCDS45885.1																																																																																			ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444903.1		+	ENST00000299687.5	Silent	SNP	18 : 72343146 - 72343146 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	401	77
HK3	3101	broad.mit.edu	37	5	176308126	176308126	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176308126G>A	ENST00000292432.5	-	19	2811	c.2720C>T	c.(2719-2721)gCg>gTg	p.A907V		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	907	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACCAGGGCCGCACCTTTGCC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	50	50			NA	NA	5		NA											NA				176308126		2203	4300	6503	SO:0001583	missense				CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	3101	3101	2.7.1.1		4925	protein-coding gene	gene with protein product		142570			NA	8812439	Standard		NM_002115	NA	Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.2720C>T	5.37:g.176308126G>A	ENSP00000292432:p.Ala907Val	NA	Q8N1E7	37	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560395	0.65538	.	.	ENSG00000160883	ENST00000292432	D	0.99405	-5.84	5.22	5.22	0.72569	Hexokinase, C-terminal (1);	0.000000	0.49305	D	0.000149	D	0.99722	0.9892	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97363	0.9971	10	0.87932	D	0	-12.1194	17.5321	0.87817	0.0:0.0:1.0:0.0	.	907	P52790	HXK3_HUMAN	V	907	ENSP00000292432:A907V	ENSP00000292432:A907V	A	-	2	0	HK3	176240732	1.000000	0.71417	0.878000	0.34440	0.130000	0.20726	7.415000	0.80131	2.714000	0.92807	0.561000	0.74099	GCG	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253428.1		-	ENST00000292432.5	Missense_Mutation	SNP	5 : 176308126 - 176308126 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	301	52
RAB2A	5862	broad.mit.edu	37	8	61496780	61496780	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61496780C>T	ENST00000262646.7	+	4	551	c.200C>T	c.(199-201)tCc>tTc	p.S67F	RAB2A_ENST00000531289.1_Missense_Mutation_p.S43F|RAB2A_ENST00000530071.1_3'UTR|RAB2A_ENST00000529579.1_Missense_Mutation_p.S67F	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family	67					ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|melanosome	GDP binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			GGGCAAGAATCCTTTCGTTCC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	142	141			NA	NA	8		NA											NA				61496780		2203	4300	6503	SO:0001583	missense				CCDS6175.1, CCDS56537.1	8q12.1	2007-01-15	2007-01-15	2007-01-15	ENSG00000104388	ENSG00000104388	5862	5862		RAB, member RAS oncogene	9763	protein-coding gene	gene with protein product		179509	RAB2, member RAS oncogene family	RAB2	NA		Standard		NM_002865	NA	Approved		uc003xud.2	P61019	OTTHUMG00000134298	ENST00000262646.7:c.200C>T	8.37:g.61496780C>T	ENSP00000262646:p.Ser67Phe	NA	B2R5W8|P08886	37	CCDS6175.1	.	.	.	.	.	.	.	.	.	.	C	32	5.170618	0.94807	.	.	ENSG00000104388	ENST00000262646;ENST00000531289;ENST00000529579;ENST00000543829	T;T;T	0.77620	-1.11;-1.11;-1.11	5.97	5.97	0.96955	Small GTP-binding protein domain (1);	0.048123	0.85682	D	0.000000	D	0.88351	0.6413	M	0.76002	2.32	0.80722	D	1	D;D	0.57899	0.979;0.981	P;D	0.67548	0.9;0.952	D	0.88331	0.2968	10	0.87932	D	0	.	20.4324	0.99085	0.0:1.0:0.0:0.0	.	43;67	B4DMQ5;P61019	.;RAB2A_HUMAN	F	67;43;67;21	ENSP00000262646:S67F;ENSP00000431846:S43F;ENSP00000431589:S67F	ENSP00000262646:S67F	S	+	2	0	RAB2A	61659334	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.818000	0.86416	2.833000	0.97629	0.585000	0.79938	TCC	RAB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000259145.2		+	ENST00000262646.7	Missense_Mutation	SNP	8 : 61496780 - 61496780 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	724	115
ARHGAP21	57584	broad.mit.edu	37	10	24909750	24909750	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24909750G>A	ENST00000396432.2	-	9	1560	c.1074C>T	c.(1072-1074)atC>atT	p.I358I	ARHGAP21_ENST00000320481.6_Silent_p.I145I	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	357					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TGCTGCTTGAGATTCCATCAG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	60	60			NA	NA	10		NA											NA				24909750		2203	4300	6503	SO:0001819	synonymous_variant			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863	57584	57584		Rho GTPase activating proteins, Pleckstrin homology (PH) domain containing	23725	protein-coding gene	gene with protein product		609870			NA	12056806	Standard	NM_020824	NM_020824	NA	Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.1074C>T	10.37:g.24909750G>A		NA	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	37	CCDS7144.2																																																																																			ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047229.4		-	ENST00000396432.2	Silent	SNP	10 : 24909750 - 24909750 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	58
CEACAM5	1048	broad.mit.edu	37	19	42219576	42219576	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42219576G>A	ENST00000398599.4	+	4	858	c.711G>A	c.(709-711)ccG>ccA	p.P237P	CEACAM5_ENST00000221992.6_Silent_p.P237P|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Silent_p.P237P			P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	237	Ig-like 2.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CAGATGGCCCGGATGCCCCCA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	70	69			NA	NA	19		NA											NA				42219576		2203	4300	6503	SO:0001819	synonymous_variant			M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388	1048	1048		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	1817	protein-coding gene	gene with protein product		114890		CEA	NA		Standard	NM_004363	XM_005258413	NA	Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000398599.4:c.711G>A	19.37:g.42219576G>A		NA		37		.	.	.	.	.	.	.	.	.	.	-	0.155	-1.087253	0.01873	.	.	ENSG00000105388	ENST00000398599	.	.	.	3.18	-0.947	0.10382	.	.	.	.	.	T	0.42381	0.1200	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28808	-1.0032	4	.	.	.	.	2.7144	0.05183	0.2758:0.0:0.5037:0.2205	.	.	.	.	R	234	.	.	G	+	1	0	CEACAM5	46911416	0.000000	0.05858	0.695000	0.30226	0.048000	0.14542	-2.052000	0.01401	0.046000	0.15833	-0.680000	0.03767	GGA	CEACAM5-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000321133.2		+	ENST00000398599.4	Silent	SNP	19 : 42219576 - 42219576 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	425	78
FBXO5	26271	broad.mit.edu	37	6	153296711	153296711	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:153296711T>C	ENST00000367241.3	-	2	391	c.11A>G	c.(10-12)gAt>gGt	p.D4G	FBXO5_ENST00000229758.3_Missense_Mutation_p.D50G	NM_001142522.1	NP_001135994.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	50					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		ACAATTAAAATCACACTTCAT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(121;372 1757 17721 17977 29669)							NA				0													69	73	72			NA	NA	6		NA											NA				153296711		2201	4298	6499	SO:0001583	missense			AF129535	CCDS5242.1, CCDS47501.1	6q25-q26	2008-02-05	2004-06-15		ENSG00000112029	ENSG00000112029	26271	26271		F-boxes /  other	13584	protein-coding gene	gene with protein product		606013	F-box only protein 5		NA	10531035, 10531037	Standard		NM_012177	NA	Approved	FBX5, Fbxo31, EMI1	uc003qpg.3	Q9UKT4	OTTHUMG00000015854	ENST00000367241.3:c.11A>G	6.37:g.153296711T>C	ENSP00000356210:p.Asp4Gly	NA	B3KNX5|Q8WV29|Q9UGC8	37	CCDS47501.1	.	.	.	.	.	.	.	.	.	.	T	17.25	3.341237	0.60963	.	.	ENSG00000112029	ENST00000229758;ENST00000367241	T;T	0.48836	0.8;0.93	5.4	1.63	0.23807	.	0.275036	0.33650	N	0.004693	T	0.18002	0.0432	L	0.56769	1.78	0.25130	N	0.990574	B	0.17667	0.023	B	0.14578	0.011	T	0.24440	-1.0160	10	0.33940	T	0.23	-9.9826	5.0346	0.14428	0.0:0.2207:0.1443:0.635	.	50	Q9UKT4	FBX5_HUMAN	G	50;4	ENSP00000229758:D50G;ENSP00000356210:D4G	ENSP00000229758:D50G	D	-	2	0	FBXO5	153338404	1.000000	0.71417	0.992000	0.48379	0.982000	0.71751	1.468000	0.35332	0.045000	0.15804	0.533000	0.62120	GAT	FBXO5-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042758.1		-	ENST00000367241.3	Missense_Mutation	SNP	6 : 153296711 - 153296711 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	424	81
MAST2	23139	broad.mit.edu	37	1	46497062	46497062	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46497062G>T	ENST00000361297.2	+	24	3275		c.e24-1		MAST2_ENST00000372009.2_Splice_Site	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	NA					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TGGGCCTACAGCTATGGAGAC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	39	37			NA	NA	1		NA											NA				46497062		2045	4178	6223	SO:0001630	splice_region_variant			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015	23139	23139			19035	protein-coding gene	gene with protein product		612257			NA		Standard	NM_015112	NM_015112	NA	Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.2993-1G>T	1.37:g.46497062G>T		NA	O94899|Q5VT07|Q5VT08|Q7LGC4|Q8NDG1|Q96B94|Q9BYE8	37	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977123	0.53720	.	.	ENSG00000086015	ENST00000361297;ENST00000372009	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0003	0.80288	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAST2	46269649	0.998000	0.40836	1.000000	0.80357	0.914000	0.54420	5.075000	0.64407	2.626000	0.88956	0.655000	0.94253	.	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021977.1	Intron	+	ENST00000361297.2	Splice_Site	SNP	1 : 46497062 - 46497062 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	251	68
MYO10	4651	broad.mit.edu	37	5	16766233	16766233	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16766233A>G	ENST00000513610.1	-	11	1589	c.1135T>C	c.(1135-1137)Ttc>Ctc	p.F379L		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	379	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CCCCTGAGGAACATTGATCTC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	129	130			NA	NA	5		NA											NA				16766233		1960	4168	6128	SO:0001583	missense			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555	4651	4651		Myosins / Myosin superfamily : Class X, Pleckstrin homology (PH) domain containing	7593	protein-coding gene	gene with protein product		601481			NA	8884266	Standard	NM_012334	NM_012334	NA	Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.1135T>C	5.37:g.16766233A>G	ENSP00000421280:p.Phe379Leu	NA	A7E2D1|O94893|Q9NYM7|Q9P110|Q9P111|Q9UHF6	37	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	A	15.57	2.873472	0.51695	.	.	ENSG00000145555	ENST00000513610;ENST00000513882	D;D	0.86694	-2.16;-2.16	5.05	1.2	0.21068	Myosin head, motor domain (2);	.	.	.	.	T	0.72724	0.3496	N	0.12471	0.22	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.12156	0.002;0.007	T	0.59204	-0.7498	9	0.48119	T	0.1	.	6.273	0.20965	0.2545:0.1003:0.0:0.6452	.	20;379	Q69YP8;Q9HD67	.;MYO10_HUMAN	L	379;390	ENSP00000421280:F379L;ENSP00000421309:F390L	ENSP00000421280:F379L	F	-	1	0	MYO10	16819233	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	2.471000	0.45127	-0.042000	0.13535	0.482000	0.46254	TTC	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366167.1		-	ENST00000513610.1	Missense_Mutation	SNP	5 : 16766233 - 16766233 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	193	34
VWA3B	200403	broad.mit.edu	37	2	98750321	98750321	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98750321G>T	ENST00000477737.1	+	7	1111	c.907G>T	c.(907-909)Gaa>Taa	p.E303*	VWA3B_ENST00000435344.1_Nonsense_Mutation_p.E303*|VWA3B_ENST00000451075.2_Nonsense_Mutation_p.E153*	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	303										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGAGTGTGTAGAATTTCCTGC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													291	274	280			NA	NA	2		NA											NA				98750321		2048	4205	6253	SO:0001587	stop_gained			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658	200403	200403			28385	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_144992	NM_144992	NA	Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.907G>T	2.37:g.98750321G>T	ENSP00000417955:p.Glu303*	NA	B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	37	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440653	0.83993	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	.	.	.	5.66	2.81	0.32909	.	1.314060	0.04874	N	0.446518	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	7.8642	0.29528	0.0754:0.0:0.6401:0.2844	.	.	.	.	X	303;303;153	.	ENSP00000411168:E303X	E	+	1	0	VWA3B	98116753	0.004000	0.15560	0.001000	0.08648	0.009000	0.06853	1.226000	0.32563	0.290000	0.22444	-0.169000	0.13324	GAA	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353469.2		+	ENST00000477737.1	Nonsense_Mutation	SNP	2 : 98750321 - 98750321 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1365	224
MFAP4	4239	broad.mit.edu	37	17	19288434	19288434	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19288434T>C	ENST00000395592.2	-	5	641	c.570A>G	c.(568-570)gcA>gcG	p.A190A	MFAP4_ENST00000299610.4_Silent_p.A166A|MFAP4_ENST00000497081.2_Silent_p.A191A	NM_001198695.1	NP_001185624.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	166	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding			large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCTCAAAGCCTGCCACAAAGA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	104	112			NA	NA	17		NA											NA				19288434		2203	4300	6503	SO:0001819	synonymous_variant			L38486	CCDS11208.1, CCDS56023.1	17p11.2	2013-02-06			ENSG00000166482	ENSG00000166482	4239	4239		Fibrinogen C domain containing	7035	protein-coding gene	gene with protein product	microfibril-associated glycoprotein 4	600596			NA	7633408	Standard	NM_002404	NM_001198695	NA	Approved		uc002gvs.3	P55083	OTTHUMG00000059585	ENST00000395592.2:c.570A>G	17.37:g.19288434T>C		NA	A8KAJ1|Q6P680	37	CCDS56023.1																																																																																			MFAP4-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132547.3		-	ENST00000395592.2	Silent	SNP	17 : 19288434 - 19288434 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	689	122
CPE	1363	broad.mit.edu	37	4	166388932	166388932	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:166388932C>T	ENST00000402744.4	+	3	877	c.597C>T	c.(595-597)taC>taT	p.Y199Y		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	199					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGATAGTGTACGTGAATGAGA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	74	75			NA	NA	4		NA											NA				166388932		2203	4300	6503	SO:0001819	synonymous_variant			X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	1363	1363	3.4.17.10		2303	protein-coding gene	gene with protein product	carboxypeptidase H, enkephalin convertase, insulin granule-associated carboxypeptidase, cobalt-stimulated chromaffin granule carboxypeptidase	114855			NA	2334405	Standard	NM_001873	NM_001873	NA	Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.597C>T	4.37:g.166388932C>T		NA	A8K4N1|B3KR42|D3DP33|Q9UIU9	37	CCDS3810.1																																																																																			CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317094.2		+	ENST00000402744.4	Silent	SNP	4 : 166388932 - 166388932 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	17
ERN1	2081	broad.mit.edu	37	17	62125340	62125340	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62125340C>T	ENST00000433197.3	-	19	2502	c.2407G>A	c.(2407-2409)Gtc>Atc	p.V803I		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	NA	Protein kinase.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CGTGCAATGACGTCTTCTATA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	61	61			NA	NA	17		NA											NA				62125340		1948	4144	6092	SO:0001583	missense			AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607	2081	2081			3449	protein-coding gene	gene with protein product	inositol-requiring enzyme 1	604033	ER to nucleus signalling 1		NA	9637683	Standard	NM_001433	NM_001433	NA	Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.2407G>A	17.37:g.62125340C>T	ENSP00000401445:p.Val803Ile	NA	A1L457|A8K8N8|A8MXS7|Q59EE2	37	CCDS45762.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.623276	0.28889	.	.	ENSG00000178607	ENST00000433197	T	0.64803	-0.12	5.23	2.68	0.31781	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.148489	0.49916	N	0.000123	T	0.40979	0.1139	N	0.21194	0.64	0.39713	D	0.971359	B	0.06786	0.001	B	0.11329	0.006	T	0.13388	-1.0511	10	0.15952	T	0.53	-25.2307	6.8144	0.23822	0.0:0.5913:0.0:0.4087	.	803	O75460	ERN1_HUMAN	I	803	ENSP00000401445:V803I	ENSP00000401445:V803I	V	-	1	0	ERN1	59479072	1.000000	0.71417	0.956000	0.39512	0.802000	0.45316	0.870000	0.28010	0.657000	0.30906	0.491000	0.48974	GTC	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443734.2		-	ENST00000433197.3	Missense_Mutation	SNP	17 : 62125340 - 62125340 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	146	26
MRPS2	51116	broad.mit.edu	37	9	138395463	138395463	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138395463C>T	ENST00000371785.1	+	5	584	c.375C>T	c.(373-375)ctC>ctT	p.L125L	MRPS2_ENST00000241600.5_Silent_p.L125L|RP11-426A6.5_ENST00000415062.1_RNA|MRPS2_ENST00000488610.1_3'UTR			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	125					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		CCACGCACCTCCAGCTGGCCT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	88	98			NA	NA	9		NA											NA				138395463		2203	4300	6503	SO:0001819	synonymous_variant			AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140	51116	51116		Mitochondrial ribosomal proteins / small subunits	14495	protein-coding gene	gene with protein product		611971			NA		Standard		NM_016034	NA	Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.375C>T	9.37:g.138395463C>T		NA	Q5T899|Q9BSQ4	37	CCDS6990.1																																																																																			MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054998.1		+	ENST00000371785.1	Silent	SNP	9 : 138395463 - 138395463 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	357	42
DPP6	1804	broad.mit.edu	37	7	154596655	154596655	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:154596655C>T	ENST00000404039.1	+	15	1923	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	DPP6_ENST00000377770.3_Missense_Mutation_p.R510W|DPP6_ENST00000427557.1_Missense_Mutation_p.R403W|DPP6_ENST00000332007.3_Missense_Mutation_p.R448W	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	510					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GGACCTGCCTCGGAGACGACA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(125;1384 1783 2490 7422 34254)							NA				0													77	84	82			NA	NA	7		NA											NA				154596655		2058	4198	6256	SO:0001583	missense			M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226	1804	1804			3010	protein-coding gene	gene with protein product		126141	dipeptidylpeptidase VI, dipeptidylpeptidase 6		NA	1729689	Standard	NM_130797	XM_006715871	NA	Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000404039.1:c.1336C>T	7.37:g.154596655C>T	ENSP00000385578:p.Arg446Trp	NA		37		.	.	.	.	.	.	.	.	.	.	C	16.36	3.101985	0.56183	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.04	1.69	0.24217	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.243875	0.48286	D	0.000193	T	0.50188	0.1601	M	0.73962	2.25	0.37883	D	0.930458	D;D;D;D	0.76494	0.994;0.999;0.999;0.999	P;P;P;D	0.63192	0.832;0.901;0.861;0.912	T	0.58148	-0.7687	10	0.66056	D	0.02	-12.2056	13.0161	0.58757	0.331:0.669:0.0:0.0	.	403;448;510;446	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	W	446;510;448;403	ENSP00000385578:R446W;ENSP00000367001:R510W;ENSP00000328226:R448W;ENSP00000397303:R403W	ENSP00000328226:R448W	R	+	1	2	DPP6	154227588	0.899000	0.30636	0.001000	0.08648	0.759000	0.43091	1.793000	0.38764	0.126000	0.18424	0.650000	0.86243	CGG	DPP6-001	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000322930.1		+	ENST00000404039.1	Missense_Mutation	SNP	7 : 154596655 - 154596655 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	49	10
KCNH5	27133	broad.mit.edu	37	14	63175128	63175128	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63175128G>A	ENST00000322893.7	-	11	2333	c.2065C>T	c.(2065-2067)Cgc>Tgc	p.R689C	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	689					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)		TGCCGGAGGCGCTCCTCCTCC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	88	86			NA	NA	14		NA											NA				63175128		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.2065C>T	14.37:g.63175128G>A	ENSP00000321427:p.Arg689Cys	NA		37	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.172220	0.57584	.	.	ENSG00000140015	ENST00000322893	T	0.18502	2.21	5.72	3.88	0.44766	.	0.000000	0.85682	D	0.000000	T	0.26231	0.0640	L	0.58101	1.795	0.80722	D	1	D	0.64830	0.994	P	0.51657	0.676	T	0.01162	-1.1432	10	0.52906	T	0.07	.	11.0615	0.47950	0.0667:0.0:0.8045:0.1289	.	689	Q8NCM2	KCNH5_HUMAN	C	689	ENSP00000321427:R689C	ENSP00000321427:R689C	R	-	1	0	KCNH5	62244881	1.000000	0.71417	0.791000	0.31998	0.983000	0.72400	4.606000	0.61126	0.763000	0.33175	0.655000	0.94253	CGC	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411747.1		-	ENST00000322893.7	Missense_Mutation	SNP	14 : 63175128 - 63175128 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	612	136
RYR3	6263	broad.mit.edu	37	15	34030740	34030740	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34030740G>A	ENST00000389232.4	+	50	7675	c.7605G>A	c.(7603-7605)ctG>ctA	p.L2535L	RYR3_ENST00000415757.3_Silent_p.L2535L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2535	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAGAAGAGCTGCACCTAACGG	0.498		NA									OREG0023032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	116	113			NA	NA	15		NA											NA				34030740		1928	4122	6050	SO:0001819	synonymous_variant				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838	6263	6263		Ion channels / Ryanodine receptors, EF-hand domain containing	10485	protein-coding gene	gene with protein product		180903			NA	8276408	Standard		NM_001036	NA	Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.7605G>A	15.37:g.34030740G>A		844	O15175|Q15412	37	CCDS45210.1																																																																																			RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417514.1		+	ENST00000389232.4	Silent	SNP	15 : 34030740 - 34030740 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	334	58
SPRED2	200734	broad.mit.edu	37	2	65540683	65540683	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:65540683G>A	ENST00000356388.4	-	6	1398	c.1209C>T	c.(1207-1209)tgC>tgT	p.C403C	SPRED2_ENST00000443619.2_Silent_p.C400C	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	403	SPR.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						ACATCACTCCGCAGTGGTAGC	0.607		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	66	68	67		1200,1209	-0.1	0.9	2		67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SPRED2	NM_001128210.1,NM_181784.2	,	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	,	400/416,403/419	65540683	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369	200734	200734			17722	protein-coding gene	gene with protein product		609292			NA		Standard		NM_181784	NA	Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.1209C>T	2.37:g.65540683G>A		NA	A1L3V4|D6W5F7|Q2NKX6	37	CCDS33211.1																																																																																			SPRED2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327632.1		-	ENST00000356388.4	Silent	SNP	2 : 65540683 - 65540683 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	516	77
KIF1B	23095	broad.mit.edu	37	1	10412734	10412734	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10412734C>T	ENST00000377081.1	+	37	4074	c.3995C>T	c.(3994-3996)gCc>gTc	p.A1332V	KIF1B_ENST00000377086.1_Missense_Mutation_p.A1332V|KIF1B_ENST00000263934.6_Missense_Mutation_p.A1286V|KIF1B_ENST00000465635.1_3'UTR			O60333	KIF1B_HUMAN	kinesin family member 1B	1332					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GCAGTTGATGCCATCCTCTCC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													190	186	187			NA	NA	1		NA											NA				10412734		2203	4300	6503	SO:0001583	missense			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523	23095	23095		Kinesins, Pleckstrin homology (PH) domain containing	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2	NA	11389829, 10762626	Standard		NM_015074	NA	Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377081.1:c.3995C>T	1.37:g.10412734C>T	ENSP00000366284:p.Ala1332Val	NA	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	37		.	.	.	.	.	.	.	.	.	.	C	23.4	4.414574	0.83449	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.72505	-0.59;-0.66;-0.66	5.76	5.76	0.90799	.	0.053671	0.64402	D	0.000001	T	0.69287	0.3094	N	0.16656	0.425	0.58432	D	0.999998	B;P;P;P;B;P	0.46327	0.018;0.728;0.873;0.876;0.101;0.621	B;B;P;P;B;B	0.54026	0.032;0.245;0.585;0.74;0.096;0.404	T	0.65240	-0.6216	10	0.23302	T	0.38	.	19.976	0.97309	0.0:1.0:0.0:0.0	.	1318;1292;1332;1306;1332;1286	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	V	1332;1286;1332;1332	ENSP00000263934:A1286V;ENSP00000366290:A1332V;ENSP00000366284:A1332V	ENSP00000263934:A1286V	A	+	2	0	KIF1B	10335321	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.784000	0.68990	2.713000	0.92767	0.655000	0.94253	GCC	KIF1B-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000005106.1		+	ENST00000377081.1	Missense_Mutation	SNP	1 : 10412734 - 10412734 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	458	86
NUDT18	79873	broad.mit.edu	37	8	21965776	21965776	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21965776C>A	ENST00000522405.1	-	2	342	c.13G>T	c.(13-15)Gag>Tag	p.E5*	NUDT18_ENST00000521807.2_3'UTR|NUDT18_ENST00000309188.6_Nonsense_Mutation_p.E82*			Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 18	82							hydrolase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|lung(2)	4				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		ACGATGGTCTCCCCTGGCTCC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	38	35			NA	NA	8		NA											NA				21965776		2131	4217	6348	SO:0001587	stop_gained				CCDS75706.1	8p21.3	2012-07-31				ENSG00000275074	79873	79873		Nudix motif containing	26194	protein-coding gene	gene with protein product	mutT human homolog 3	615791			NA	22556419	Standard	NM_024815	NM_024815	NA	Approved	FLJ22494, MTH3	uc003xaq.1	Q6ZVK8		ENST00000522405.1:c.13G>T	8.37:g.21965776C>A	ENSP00000430539:p.Glu5*	NA	Q8IZ75|Q9H687	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.090209|6.090209	0.97271|0.97271	.|.	.|.	ENSG00000173566|ENSG00000173566	ENST00000522405;ENST00000309188|ENST00000522379	.|T	.|0.13307	.|2.6	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.32704	.|0.0838	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.33317	.|-0.9873	.|5	0.87932|0.87932	D|D	0|0	0.0307|0.0307	16.0045|16.0045	0.80349|0.80349	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	5;82|117	.|ENSP00000430117:G117V	ENSP00000307852:E82X|ENSP00000430117:G117V	E|G	-|-	1|2	0|0	NUDT18|NUDT18	22021721|22021721	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.958000|0.958000	0.62258|0.62258	4.586000|4.586000	0.60984|0.60984	2.387000|2.387000	0.81309|0.81309	0.561000|0.561000	0.74099|0.74099	GAG|GGA	NUDT18-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000375411.1		-	ENST00000522405.1	Nonsense_Mutation	SNP	8 : 21965776 - 21965776 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	34	6
PGBD1	84547	broad.mit.edu	37	6	28269797	28269797	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28269797G>A	ENST00000405948.2	+	7	2586	c.2166G>A	c.(2164-2166)caG>caA	p.Q722Q	PGBD1_ENST00000259883.3_Silent_p.Q722Q	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	722					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AAATCCCTCAGATAAGTCAAC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	132	134			NA	NA	6		NA											NA				28269797		2203	4300	6503	SO:0001819	synonymous_variant			D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338	84547	84547		-	19398	protein-coding gene	gene with protein product					NA		Standard		NM_001184743	NA	Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.2166G>A	6.37:g.28269797G>A		NA	Q53F43|Q6NTF5|Q8WWS4	37	CCDS4648.1																																																																																			PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040188.2		+	ENST00000405948.2	Silent	SNP	6 : 28269797 - 28269797 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	519	83
SCAND3	0	broad.mit.edu	37	6	28541211	28541211	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28541211C>T	ENST00000452236.2	-	4	3072	c.2455G>A	c.(2455-2457)Gct>Act	p.A819T		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN		819					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						gcccgcaaagcactaatgttt	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	113	115			NA	NA	6		NA											NA				28541211		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000452236.2:c.2455G>A	6.37:g.28541211C>T	ENSP00000395259:p.Ala819Thr	NA	Q2NKL9|Q5SRJ3|Q8TCN2|Q96MV9|Q96PW3	37	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.213948	0.58452	.	.	ENSG00000232040	ENST00000452236	T	0.01685	4.69	2.27	2.27	0.28462	.	0.000000	0.56097	U	0.000035	T	0.02380	0.0073	L	0.52011	1.625	0.26505	N	0.974691	D	0.57571	0.98	D	0.72338	0.977	T	0.43893	-0.9363	10	0.49607	T	0.09	.	8.144	0.31100	0.0:1.0:0.0:0.0	.	819	Q6R2W3	SCND3_HUMAN	T	819	ENSP00000395259:A819T	ENSP00000395259:A819T	A	-	1	0	SCAND3	28649190	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	1.852000	0.39348	1.581000	0.49865	0.655000	0.94253	GCT	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043551.3		-	ENST00000452236.2	Missense_Mutation	SNP	6 : 28541211 - 28541211 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	650	121
GLIS3	169792	broad.mit.edu	37	9	4286138	4286138	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4286138C>T	ENST00000381971.3	-	2	881	c.288G>A	c.(286-288)ccG>ccA	p.P96P		NM_001042413.1	NP_001035878.1	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	328	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CCTGGAATCGCGGCTTCCCAT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,3996		0,0,1998	83	85	84		288	-2.1	1	9		84	1,8325		0,1,4162	no	coding-synonymous	GLIS3	NM_001042413.1		0,1,6160	TT,TC,CC	NA	0.012,0.0,0.0081		96/931	4286138	1,12321	1998	4163	6161	SO:0001819	synonymous_variant			BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249	169792	169792		Zinc fingers, C2H2-type	28510	protein-coding gene	gene with protein product		610192	zinc finger protein 515	ZNF515	NA	14500813	Standard	NM_152629	NM_152629	NA	Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000381971.3:c.288G>A	9.37:g.4286138C>T		NA	B1AL19|Q1PHK5	37	CCDS43784.1																																																																																			GLIS3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354776.1		-	ENST00000381971.3	Silent	SNP	9 : 4286138 - 4286138 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	597	85
FKTN	2218	broad.mit.edu	37	9	108366669	108366669	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:108366669C>T	ENST00000223528.2	+	5	667	c.543C>T	c.(541-543)ggC>ggT	p.G181G	FKTN_ENST00000540160.1_Silent_p.G181G|FKTN_ENST00000448551.2_Silent_p.G181G|FKTN_ENST00000357998.5_Silent_p.G181G|FKTN_ENST00000602661.1_Silent_p.G181G	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	181					muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						AGAGGAGTGGCAACTACCTCT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	104	111			NA	NA	9		NA											NA				108366669		2203	4300	6503	SO:0001819	synonymous_variant				CCDS6766.1	9q31-q33	2014-09-17	2007-11-21	2007-11-21	ENSG00000106692	ENSG00000106692	2218	2218			3622	protein-coding gene	gene with protein product		607440	Fukuyama type congenital muscular dystrophy (fukutin)	FCMD	NA	8275093, 17036286, 17044012	Standard	NM_006731	NM_001079802	NA	Approved	LGMD2M	uc004bcs.3	O75072	OTTHUMG00000020425	ENST00000223528.2:c.543C>T	9.37:g.108366669C>T		NA	Q3MIJ1|Q96TE1|Q9P295	37	CCDS6766.1																																																																																			FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053505.1		+	ENST00000223528.2	Silent	SNP	9 : 108366669 - 108366669 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	465	71
TRMT61B	55006	broad.mit.edu	37	2	29092543	29092543	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29092543G>T	ENST00000306108.5	-	1	624	c.601C>A	c.(601-603)Ctg>Atg	p.L201M		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	201							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						GAACTCCTCAGTATCTGGCCG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	132	130			NA	NA	2		NA											NA				29092543		2203	4300	6503	SO:0001583	missense			BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103	55006	55006			26070	protein-coding gene	gene with protein product					NA	11230166	Standard	NM_017910	NM_017910	NA	Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.601C>A	2.37:g.29092543G>T	ENSP00000302801:p.Leu201Met	NA	Q9H0Q9|Q9NWS7	37	CCDS1768.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277361	0.59758	.	.	ENSG00000171103	ENST00000306108	T	0.27402	1.67	5.5	2.6	0.31112	.	0.482216	0.18300	N	0.145454	T	0.44008	0.1273	L	0.54323	1.7	0.09310	N	1	P;D	0.65815	0.809;0.995	P;D	0.64595	0.66;0.927	T	0.11012	-1.0605	10	0.54805	T	0.06	1.1401	8.9325	0.35680	0.1226:0.128:0.7494:0.0	.	201;201	F8WDR2;Q9BVS5	.;TR61B_HUMAN	M	201	ENSP00000302801:L201M	ENSP00000302801:L201M	L	-	1	2	TRMT61B	28946047	0.000000	0.05858	0.004000	0.12327	0.905000	0.53344	0.067000	0.14510	1.259000	0.44117	0.561000	0.74099	CTG	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250224.1		-	ENST00000306108.5	Missense_Mutation	SNP	2 : 29092543 - 29092543 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	940	145
RIMKLA	284716	broad.mit.edu	37	1	42875661	42875661	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:42875661C>A	ENST00000431473.3	+	4	617	c.488C>A	c.(487-489)gCt>gAt	p.A163D		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	163	ATP-grasp.				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						AAAGGAAAAGCTGTTTTTCTG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	140	137			NA	NA	1		NA											NA				42875661		2203	4300	6503	SO:0001583	missense			BC039737	CCDS466.2	1p34.2	2011-09-21	2008-10-13	2008-10-13	ENSG00000177181	ENSG00000177181	284716	284716	6.3.2.N6		28725	protein-coding gene	gene with protein product	N-acetylaspartylglutamate synthetase II		family with sequence similarity 80, member A	FAM80A	NA	20657015, 21454531	Standard	NM_173642	NM_173642	NA	Approved	MGC47816, RP11-157D18.1, NAAGS-II	uc001chi.2	Q8IXN7	OTTHUMG00000007335	ENST00000431473.3:c.488C>A	1.37:g.42875661C>A	ENSP00000414330:p.Ala163Asp	NA	Q5VUS5	37	CCDS466.2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133153	0.77662	.	.	ENSG00000177181	ENST00000410070;ENST00000431473	.	.	.	5.42	4.5	0.54988	ATP-grasp fold (1);ATP-grasp fold, RimK-type (1);ATP-grasp fold, subdomain 1 (1);	0.052389	0.85682	D	0.000000	T	0.75525	0.3861	M	0.63843	1.955	0.80722	D	1	B	0.30542	0.284	P	0.47786	0.557	T	0.77043	-0.2734	9	0.72032	D	0.01	-35.7252	13.9526	0.64129	0.0:0.8467:0.1533:0.0	.	163	Q8IXN7	RIMKA_HUMAN	D	39;163	.	ENSP00000387064:A39D	A	+	2	0	RIMKLA	42648248	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.478000	0.66806	1.256000	0.44068	0.650000	0.86243	GCT	RIMKLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019174.3		+	ENST00000431473.3	Missense_Mutation	SNP	1 : 42875661 - 42875661 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	887	171
ANKRD26	22852	broad.mit.edu	37	10	27313399	27313399	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27313399A>G	ENST00000376087.4	-	28	4227	c.4062T>C	c.(4060-4062)gtT>gtC	p.V1354V	ANKRD26_ENST00000376070.3_Silent_p.V911V|ANKRD26_ENST00000436985.2_Silent_p.V1370V	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1353						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTTCTAATTCAACATTTTTCT	0.249		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	69	69			NA	NA	10		NA											NA				27313399		1777	4046	5823	SO:0001819	synonymous_variant			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890	22852	22852		Ankyrin repeat domain containing	29186	protein-coding gene	gene with protein product		610855	thrombocytopenia 2 (autosomal dominant)	THC2	NA	10470851, 21211618	Standard		NM_014915	NA	Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.4062T>C	10.37:g.27313399A>G		NA	A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	37	CCDS41499.1																																																																																			ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047296.1		-	ENST00000376087.4	Silent	SNP	10 : 27313399 - 27313399 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	211	33
ARHGEF16	27237	broad.mit.edu	37	1	3394527	3394527	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3394527C>T	ENST00000378378.4	+	11	1967	c.1562C>T	c.(1561-1563)gCc>gTc	p.A521V	ARHGEF16_ENST00000378371.2_Missense_Mutation_p.A233V|ARHGEF16_ENST00000413250.2_Missense_Mutation_p.A225V|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.A233V	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	521	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CGAAAAATTGCCAGCCGGCCA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	101	101			NA	NA	1		NA											NA				3394527		2191	4290	6481	SO:0001583	missense			D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762	27237	27237		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	15515	protein-coding gene	gene with protein product	putative neuroblastoma protein				NA		Standard	NM_014448	NM_014448	NA	Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.1562C>T	1.37:g.3394527C>T	ENSP00000367629:p.Ala521Val	NA	Q86TF0|Q99434	37	CCDS46.2	.	.	.	.	.	.	.	.	.	.	C	7.762	0.705645	0.15172	.	.	ENSG00000130762	ENST00000378378;ENST00000378373;ENST00000378371;ENST00000413250	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	5.58	4.64	0.57946	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.418477	0.26859	N	0.022136	T	0.67581	0.2908	L	0.50333	1.59	0.32814	D	0.501823	B;B	0.29805	0.257;0.257	B;B	0.36030	0.216;0.216	T	0.67031	-0.5773	10	0.13470	T	0.59	-18.3756	9.7142	0.40265	0.0:0.7839:0.1422:0.0738	.	225;521	B4DJM7;Q5VV41	.;ARHGG_HUMAN	V	521;233;233;225	ENSP00000367629:A521V;ENSP00000367624:A233V;ENSP00000367622:A233V;ENSP00000408887:A225V	ENSP00000367622:A233V	A	+	2	0	ARHGEF16	3384387	0.969000	0.33509	0.568000	0.28447	0.145000	0.21501	2.238000	0.43070	1.294000	0.44707	0.555000	0.69702	GCC	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000001515.1		+	ENST00000378378.4	Missense_Mutation	SNP	1 : 3394527 - 3394527 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	561	46
OXSR1	9943	broad.mit.edu	37	3	38292919	38292919	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38292919A>G	ENST00000311806.3	+	16	1773	c.1401A>G	c.(1399-1401)gaA>gaG	p.E467E		NM_005109.2	NP_005100.1	O95747	OXSR1_HUMAN	oxidative stress responsive 1	467					intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TCTCTCAGGAACTCATTTCTG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													326	292	304			NA	NA	3		NA											NA				38292919		2203	4300	6503	SO:0001819	synonymous_variant			AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939	9943	9943			8508	protein-coding gene	gene with protein product		604046	oxidative-stress responsive 1	OSR1	NA	10083736	Standard	NM_005109	XM_005265638	NA	Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000311806.3:c.1401A>G	3.37:g.38292919A>G		NA	Q3LR53|Q7Z501|Q9UPQ1	37	CCDS2675.1																																																																																			OXSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253744.1		+	ENST00000311806.3	Silent	SNP	3 : 38292919 - 38292919 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1394	281
CYR61	3491	broad.mit.edu	37	1	86047630	86047630	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86047630C>A	ENST00000451137.2	+	3	521	c.297C>A	c.(295-297)ccC>ccA	p.P99P	CYR61_ENST00000480413.1_3'UTR	NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	99	VWFC.				cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		AGGGCAGACCCTGTGAATATA	0.453		NA									OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	131	125			NA	NA	1		NA											NA				86047630		2203	4300	6503	SO:0001819	synonymous_variant			AF031385	CCDS706.1	1p22.3	2008-02-05			ENSG00000142871	ENSG00000142871	3491	3491			2654	protein-coding gene	gene with protein product		602369		IGFBP10	NA	9135077	Standard	NM_001554	NM_001554	NA	Approved	GIG1, CCN1	uc001dle.3	O00622	OTTHUMG00000010577	ENST00000451137.2:c.297C>A	1.37:g.86047630C>A		1241	O14934|O43775|Q9BZL7	37	CCDS706.1																																																																																			CYR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029187.1		+	ENST00000451137.2	Silent	SNP	1 : 86047630 - 86047630 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	756	20
SMG6	23293	broad.mit.edu	37	17	2203925	2203925	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2203925C>T	ENST00000263073.6	-	2	172	c.122G>A	c.(121-123)cGc>cAc	p.R41H	SMG6_ENST00000544865.1_Missense_Mutation_p.R10H	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	NA					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTTATCTTTGCGCGGCCTGGC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(59;28 1088 11621 25887 46638 50814)							NA				0													51	54	53			NA	NA	17		NA											NA				2203925		2202	4300	6502	SO:0001583	missense			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366	23293	23293			17809	protein-coding gene	gene with protein product	EST1 telomerase component homolog A (S. cerevisiae)	610963	chromosome 17 open reading frame 31, smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)	C17orf31	NA	12676087, 12699629	Standard		NM_017575	NA	Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.122G>A	17.37:g.2203925C>T	ENSP00000263073:p.Arg41His	NA	O94837|Q86VH6|Q9UF60	37	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275492	0.59649	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.13089	2.84;2.62	5.5	5.5	0.81552	.	0.132986	0.49916	D	0.000140	T	0.29256	0.0728	L	0.34521	1.04	0.41999	D	0.990885	D	0.89917	1.0	D	0.83275	0.996	T	0.01169	-1.1430	10	0.39692	T	0.17	-4.384	19.3907	0.94581	0.0:1.0:0.0:0.0	.	41	Q86US8	EST1A_HUMAN	H	41;10	ENSP00000263073:R41H;ENSP00000443920:R10H	ENSP00000263073:R41H	R	-	2	0	SMG6	2150675	0.998000	0.40836	0.999000	0.59377	0.925000	0.55904	4.288000	0.59007	2.569000	0.86673	0.655000	0.94253	CGC	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437826.3		-	ENST00000263073.6	Missense_Mutation	SNP	17 : 2203925 - 2203925 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	479	26
RAPGEF3	10411	broad.mit.edu	37	12	48141337	48141337	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48141337G>A	ENST00000405493.2	-	15	1629	c.1420C>T	c.(1420-1422)Cga>Tga	p.R474*	RAPGEF3_ENST00000449771.2_Nonsense_Mutation_p.R516*|RAPGEF3_ENST00000548919.1_Nonsense_Mutation_p.R474*|RAPGEF3_ENST00000389212.3_Nonsense_Mutation_p.R516*|RAPGEF3_ENST00000395358.3_Nonsense_Mutation_p.R516*|RAPGEF3_ENST00000549151.1_Nonsense_Mutation_p.R474*|RAPGEF3_ENST00000171000.4_Nonsense_Mutation_p.R474*	NM_001098532.2|NM_006105.5	NP_001092002|NP_006096	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	474					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CTGTGGCATCGCCGCCTCTCT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	61	63			NA	NA	12		NA											NA				48141337		2203	4300	6503	SO:0001587	stop_gained			AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337	10411	10411			16629	protein-coding gene	gene with protein product	exchange protein directly activated by cAMP 1	606057	RAP guanine-nucleotide-exchange factor (GEF) 3		NA	10777494, 9856955	Standard	NM_006105	NM_001098531	NA	Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000405493.2:c.1420C>T	12.37:g.48141337G>A	ENSP00000384521:p.Arg474*	NA		37	CCDS31784.1	.	.	.	.	.	.	.	.	.	.	G	37	6.577103	0.97676	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000541821;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919;ENST00000395358	.	.	.	4.37	3.47	0.39725	.	0.277746	0.27068	N	0.021096	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	9.8775	0.41213	0.0:0.0:0.7967:0.2033	.	.	.	.	X	474;516;163;474;474;474;516;528;474;516	.	ENSP00000171000:R474X	R	-	1	2	RAPGEF3	46427604	0.998000	0.40836	1.000000	0.80357	0.467000	0.32768	1.438000	0.35002	1.420000	0.47138	0.655000	0.94253	CGA	RAPGEF3-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405502.1		-	ENST00000405493.2	Nonsense_Mutation	SNP	12 : 48141337 - 48141337 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	376	65
USP7	7874	broad.mit.edu	37	16	8995939	8995939	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8995939G>A	ENST00000344836.4	-	18	2245	c.2047C>T	c.(2047-2049)Cat>Tat	p.H683Y	USP7_ENST00000535863.1_Splice_Site_p.H584Y|USP7_ENST00000381886.4_Splice_Site_p.H667Y	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	683	Interaction with ICP0/VMW110.				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GGGCACTTACGATCTTTATCA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	106	111			NA	NA	16		NA											NA				8995939		2197	4300	6497	SO:0001630	splice_region_variant			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555	7874	7874		Ubiquitin-specific peptidases	12630	protein-coding gene	gene with protein product		602519	ubiquitin specific protease 7 (herpes virus-associated)	HAUSP	NA	12838346, 9925944	Standard		NM_003470	NA	Approved		uc002czl.2	Q93009		ENST00000344836.4:c.2047+1C>T	16.37:g.8995939G>A		NA	A6NMY8	37	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001818	0.74932	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549	T;T	0.06768	3.26;3.27	5.42	5.42	0.78866	.	0.043956	0.85682	D	0.000000	T	0.05090	0.0136	N	0.22421	0.69	0.80722	D	1	P;P	0.46142	0.873;0.873	B;B	0.19148	0.024;0.024	T	0.50668	-0.8801	9	.	.	.	.	19.2247	0.93814	0.0:0.0:1.0:0.0	.	683;667	Q93009;B7Z815	UBP7_HUMAN;.	Y	683;691;584;584	ENSP00000343535:H683Y;ENSP00000443646:H584Y	.	H	-	1	0	USP7	8903440	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.751000	0.98889	2.549000	0.85964	0.561000	0.74099	CAT	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434268.2	Missense_Mutation	-	ENST00000344836.4	Splice_Site	SNP	16 : 8995939 - 8995939 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	596	30
ZNF619	285267	broad.mit.edu	37	3	40523406	40523406	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40523406C>T	ENST00000521353.1	+	2	77	c.77C>T	c.(76-78)gCt>gTt	p.A26V	ZNF619_ENST00000314686.5_5'UTR|ZNF619_ENST00000456778.1_Intron|ZNF619_ENST00000447116.2_Missense_Mutation_p.A26V|ZNF619_ENST00000520737.1_Intron|ZNF619_ENST00000429348.2_Missense_Mutation_p.A26V|ZNF619_ENST00000432264.2_Missense_Mutation_p.A26V|ZNF619_ENST00000522736.1_5'UTR			E9PCD9	E9PCD9_HUMAN	zinc finger protein 619	26					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GAGGATGTGGCTGTGTACTTC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													200	186	191			NA	NA	3		NA											NA				40523406		2203	4300	6503	SO:0001583	missense			AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873	285267	285267		Zinc fingers, C2H2-type, -	26910	protein-coding gene	gene with protein product					NA		Standard	NM_173656	NM_001145083	NA	Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000521353.1:c.77C>T	3.37:g.40523406C>T	ENSP00000430705:p.Ala26Val	NA		37	CCDS46802.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226093	0.79576	.	.	ENSG00000177873	ENST00000447116;ENST00000429348;ENST00000521353;ENST00000432264	T;T;T;T	0.03301	3.98;3.98;3.98;3.98	3.03	3.03	0.35002	.	.	.	.	.	T	0.18173	0.0436	M	0.85630	2.765	0.22787	N	0.998734	D;D	0.71674	0.998;0.998	D;D	0.69654	0.965;0.965	T	0.01988	-1.1234	9	0.52906	T	0.07	.	11.885	0.52598	0.0:1.0:0.0:0.0	.	26;26	C9JRN5;E9PCD9	.;.	V	26	ENSP00000411132:A26V;ENSP00000398024:A26V;ENSP00000430705:A26V;ENSP00000388710:A26V	ENSP00000398024:A26V	A	+	2	0	ZNF619	40498410	0.531000	0.26338	0.968000	0.41197	0.996000	0.88848	1.605000	0.36815	1.695000	0.51148	0.563000	0.77884	GCT	ZNF619-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377401.3		+	ENST00000521353.1	Missense_Mutation	SNP	3 : 40523406 - 40523406 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	743	25
DNAH17	8632	broad.mit.edu	37	17	76475586	76475586	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76475586C>T	ENST00000585328.1	-	50	7990	c.7866G>A	c.(7864-7866)caG>caA	p.Q2622Q	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Silent_p.Q2613Q	NM_173628.3	NP_775899.3			dynein, axonemal, heavy chain 17	NA										NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGGCCACCAGCTGGCTGCTTA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	59	58			NA	NA	17		NA											NA				76475586		1977	4142	6119	SO:0001819	synonymous_variant			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775	8632	8632		Axonemal dyneins	2946	protein-coding gene	gene with protein product		610063	dynein, axonemal, heavy polypeptide 17, dynein, axonemal, heavy chain like 1, dynein, axonemal, heavy like 1	DNAHL1	NA	9545504	Standard	NM_173628	NM_173628	NA	Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.7866G>A	17.37:g.76475586C>T		NA		37																																																																																				DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000318962.2		-	ENST00000585328.1	Silent	SNP	17 : 76475586 - 76475586 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	346	63
APOB	338	broad.mit.edu	37	2	21229067	21229067	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21229067C>T	ENST00000233242.1	-	26	10800	c.10673G>A	c.(10672-10674)cGc>cAc	p.R3558H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3558			R -> C (in FDB; dbSNP:rs12713559).		cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.R3558H(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGAATATATGCGTTGGAGTGT	0.463		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)											67	69	68			NA	NA	2		NA											NA				21229067		2203	4300	6503	SO:0001583	missense			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674	338	338		Apolipoproteins	603	protein-coding gene	gene with protein product		107730	apolipoprotein B (including Ag(x) antigen)		NA		Standard		NM_000384	NA	Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10673G>A	2.37:g.21229067C>T	ENSP00000233242:p.Arg3558His	NA	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852750	0.51270	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.79454	-1.27	5.85	3.74	0.42951	.	0.000000	0.64402	D	0.000016	D	0.86727	0.6002	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86773	0.1974	10	0.41790	T	0.15	.	13.4888	0.61382	0.0:0.8527:0.0:0.1473	.	3558	P04114	APOB_HUMAN	H	3558	ENSP00000233242:R3558H	ENSP00000233242:R3558H	R	-	2	0	APOB	21082572	0.839000	0.29477	0.956000	0.39512	0.530000	0.34684	1.707000	0.37888	1.478000	0.48253	0.655000	0.94253	CGC	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207571.1		-	ENST00000233242.1	Missense_Mutation	SNP	2 : 21229067 - 21229067 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	472	139
RYR2	6262	broad.mit.edu	37	1	237886522	237886522	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237886522G>T	ENST00000366574.2	+	74	10966	c.10649G>T	c.(10648-10650)aGa>aTa	p.R3550I	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.R3548I|RYR2_ENST00000542537.1_Missense_Mutation_p.R3534I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3550					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACGGTAGAAAGAGTATTGGAT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	142	145			NA	NA	1		NA											NA				237886522		1867	4086	5953	SO:0001583	missense			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626	6262	6262		Ion channels / Ryanodine receptors, EF-hand domain containing	10484	protein-coding gene	gene with protein product		180902	arrhythmogenic right ventricular dysplasia 2	ARVD2	NA	2380170, 8406504, 11159936	Standard	NM_001035	NM_001035	NA	Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10649G>T	1.37:g.237886522G>T	ENSP00000355533:p.Arg3550Ile	NA	Q15411|Q546N8|Q5T3P2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.916312	0.92249	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97089	-4.24;-4.21;-4.23	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000014	D	0.97328	0.9126	M	0.77406	2.37	0.80722	D	1	P	0.49696	0.927	P	0.46758	0.526	D	0.97220	0.9877	10	0.52906	T	0.07	-17.554	20.275	0.98485	0.0:0.0:1.0:0.0	.	3550	Q92736	RYR2_HUMAN	I	3550;3548;3534;505	ENSP00000355533:R3550I;ENSP00000353174:R3548I;ENSP00000443798:R3534I	ENSP00000353174:R3548I	R	+	2	0	RYR2	235953145	1.000000	0.71417	0.838000	0.33150	0.994000	0.84299	9.539000	0.98076	2.800000	0.96347	0.455000	0.32223	AGA	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095402.2		+	ENST00000366574.2	Missense_Mutation	SNP	1 : 237886522 - 237886522 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	471	117
TMEM19	55266	broad.mit.edu	37	12	72083392	72083392	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72083392C>T	ENST00000266673.5	+	2	746	c.152C>T	c.(151-153)cCg>cTg	p.P51L	RP11-293I14.2_ENST00000548802.1_Missense_Mutation_p.R73C|TMEM19_ENST00000549735.1_Missense_Mutation_p.P51L	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	51						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CCTATTTCTCCGTGGCGTTGG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	LEU/PRO	0,4406		0,0,2203	258	243	248		152	5.3	1	12		248	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM19	NM_018279.3	98	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	51/337	72083392	1,13005	2203	4300	6503	SO:0001583	missense			BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291	55266	55266			25605	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_018279	NM_018279	NA	Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.152C>T	12.37:g.72083392C>T	ENSP00000266673:p.Pro51Leu	NA	B2RDL2|Q53FY3|Q9NV41	37	CCDS9002.1	.	.	.	.	.	.	.	.	.	.	C	32	5.167020	0.94768	0.0	1.16E-4	ENSG00000139291	ENST00000266673;ENST00000550524;ENST00000549735	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.79563	0.4467	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.966	T	0.78259	-0.2273	9	0.38643	T	0.18	-18.4485	19.0554	0.93062	0.0:1.0:0.0:0.0	.	51;51	Q96HH6;Q96HH6-2	TMM19_HUMAN;.	L	51	.	ENSP00000266673:P51L	P	+	2	0	TMEM19	70369659	1.000000	0.71417	0.994000	0.49952	0.951000	0.60555	6.813000	0.75231	2.496000	0.84212	0.655000	0.94253	CCG	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404801.1		+	ENST00000266673.5	Missense_Mutation	SNP	12 : 72083392 - 72083392 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	511	99
TRIM37	4591	broad.mit.edu	37	17	57165749	57165749	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57165749C>T	ENST00000262294.7	-	4	443	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	TRIM37_ENST00000393066.3_Missense_Mutation_p.E62K|TRIM37_ENST00000376149.3_5'UTR|TRIM37_ENST00000584889.1_Missense_Mutation_p.E62K|TRIM37_ENST00000393065.2_Missense_Mutation_p.E28K	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	62						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTTACTAGTTCTCGTAGCTGG	0.363		NA							Mulibrey Nanism					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	107	115			NA	NA	17		NA											NA				57165749		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395	4591	4591		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	7523	protein-coding gene	gene with protein product	RING-B-box-coiled-coil protein	605073	tripartite motif-containing 37	MUL	NA	9106536, 10888877	Standard	NM_015294	NM_015294	NA	Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.184G>A	17.37:g.57165749C>T	ENSP00000262294:p.Glu62Lys	NA	Q7Z3E6|Q8IYF7|Q8WYF7	37	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	C	35	5.426551	0.96131	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000393065	T;T;T	0.17213	2.29;2.29;2.29	5.2	5.2	0.72013	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.29588	0.0738	L	0.29908	0.895	0.80722	D	1	D;B	0.64830	0.994;0.128	P;B	0.62184	0.899;0.073	T	0.02226	-1.1192	10	0.54805	T	0.06	-16.9086	18.3457	0.90321	0.0:1.0:0.0:0.0	.	28;62	F8WEE6;O94972	.;TRI37_HUMAN	K	62;62;28	ENSP00000376785:E62K;ENSP00000262294:E62K;ENSP00000376784:E28K	ENSP00000262294:E62K	E	-	1	0	TRIM37	54520531	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.647000	0.83462	2.445000	0.82738	0.650000	0.86243	GAA	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445930.1		-	ENST00000262294.7	Missense_Mutation	SNP	17 : 57165749 - 57165749 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	229	20
RB1	5925	broad.mit.edu	37	13	49054158	49054158	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49054158A>G	ENST00000267163.4	+	27	2876	c.2738A>G	c.(2737-2739)aAg>aGg	p.K913R	RB1_ENST00000484879.1_3'UTR	NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	913	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CGAATGCAAAAGCAGAAAATG	0.418		6	D, Mis, N, F, S		retinoblastoma, sarcoma, breast, small cell lung	retinoblastoma, sarcoma, breast, small cell lung			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		L, E, M, O	26	Whole gene deletion(15)|Unknown(11)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)											158	135	143			NA	NA	13		NA											NA				49054158		2203	4300	6503	SO:0001583	missense	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687	5925	5925		Endogenous ligands	9884	protein-coding gene	gene with protein product	prepro-retinoblastoma-associated protein, protein phosphatase 1, regulatory subunit 130	614041	osteosarcoma	OSRC	NA	1857421, 15057823	Standard		NM_000321	NA	Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2738A>G	13.37:g.49054158A>G	ENSP00000267163:p.Lys913Arg	NA	A8K5E3|P78499|Q5VW46|Q8IZL4	37	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.300929	0.81136	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	T	0.81247	-1.47	6.06	6.06	0.98353	Rb C-terminal (1);	0.054730	0.64402	D	0.000001	D	0.82486	0.5047	L	0.40543	1.245	0.41921	D	0.990516	P	0.50528	0.936	P	0.53266	0.722	D	0.84188	0.0443	10	0.62326	D	0.03	.	16.6154	0.84909	1.0:0.0:0.0:0.0	.	913	P06400	RB_HUMAN	R	892;913	ENSP00000267163:K913R	ENSP00000267163:K913R	K	+	2	0	RB1	47952159	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.519000	0.81809	2.315000	0.78130	0.533000	0.62120	AAG	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044884.1		+	ENST00000267163.4	Missense_Mutation	SNP	13 : 49054158 - 49054158 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	211	41
OR2B2	81697	broad.mit.edu	37	6	27879173	27879173	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27879173G>T	ENST00000303324.2	-	1	1001	c.925C>A	c.(925-927)Ctt>Att	p.L309I		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						TGATTAAGAAGACTCTTTGCA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	83	83			NA	NA	6		NA											NA				27879173		2203	4300	6503	SO:0001583	missense			Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131	81697	81697		GPCR / Class A : Olfactory receptors	13966	protein-coding gene	gene with protein product			olfactory receptor, family 2, subfamily B, member 9	OR2B9	NA		Standard		NM_033057	NA	Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.925C>A	6.37:g.27879173G>T	ENSP00000304419:p.Leu309Ile	NA	B2RNH2|Q9GZL2|Q9Y299	37	CCDS4641.1	.	.	.	.	.	.	.	.	.	.	G	5.249	0.231361	0.09969	.	.	ENSG00000168131	ENST00000303324	T	0.38240	1.15	3.18	1.2	0.21068	.	0.886778	0.09250	N	0.827978	T	0.05960	0.0155	N	0.12569	0.235	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40887	-0.9539	10	0.22706	T	0.39	.	4.9859	0.14189	0.325:0.0:0.675:0.0	.	309	Q9GZK3	OR2B2_HUMAN	I	309	ENSP00000304419:L309I	ENSP00000304419:L309I	L	-	1	0	OR2B2	27987152	0.017000	0.18338	0.012000	0.15200	0.134000	0.20937	-0.115000	0.10741	0.285000	0.22329	0.313000	0.20887	CTT	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040163.1		-	ENST00000303324.2	Missense_Mutation	SNP	6 : 27879173 - 27879173 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	63
ZNF804B	219578	broad.mit.edu	37	7	88963589	88963589	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:88963589A>G	ENST00000333190.4	+	4	1902	c.1293A>G	c.(1291-1293)gcA>gcG	p.A431A		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	431						intracellular	zinc ion binding	p.A431A(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TAAAAGAAGCATGTACCCATA	0.388		NA								HNSCC(36;0.09)				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)											64	65	65			NA	NA	7		NA											NA				88963589		2201	4299	6500	SO:0001819	synonymous_variant			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348	219578	219578			21958	protein-coding gene	gene with protein product			zinc finger 804B		NA		Standard	NM_181646	NM_181646	NA	Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1293A>G	7.37:g.88963589A>G		NA	B2RTV2|Q7Z714|Q96MN7	37	CCDS5613.1																																																																																			ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253683.2		+	ENST00000333190.4	Silent	SNP	7 : 88963589 - 88963589 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	77
TRAPPC8	22878	broad.mit.edu	37	18	29429662	29429662	+	Missense_Mutation	SNP	C	C	T	rs78689148		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29429662C>T	ENST00000283351.4	-	25	3937	c.3602G>A	c.(3601-3603)cGa>cAa	p.R1201Q	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.R1147Q	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1201					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGATAAACTTCGATAAAAGAA	0.328		NA											C	2	9e-04	0.0041	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	9e-04	1	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0								C	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	74	72	73		3602	5.9	1	18	dbSNP_131	73	0,8598		0,0,4299	yes	missense	TRAPPC8	NM_014939.3	43	0,2,6500	TT,TC,CC	NA	0.0,0.0454,0.0154	benign	1201/1436	29429662	2,13002	2203	4299	6502	SO:0001583	missense			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339	22878	22878		Trafficking protein particle complex	29169	protein-coding gene	gene with protein product	general sporulation gene 1 homolog (S. cerevisiae)	614136	KIAA1012	KIAA1012	NA	10231032, 11230166	Standard	NM_014939	NM_014939	NA	Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.3602G>A	18.37:g.29429662C>T	ENSP00000283351:p.Arg1201Gln	NA	A0JP15|B3KME5|Q9H0L2	37	CCDS11901.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	14.82	2.649391	0.47362	4.54E-4	0.0	ENSG00000153339	ENST00000283351	T	0.10382	2.88	5.86	5.86	0.93980	.	0.193458	0.46442	D	0.000284	T	0.07593	0.0191	N	0.25426	0.745	0.80722	D	1	B	0.25169	0.119	B	0.15484	0.013	T	0.34750	-0.9816	10	0.23891	T	0.37	.	10.2431	0.43324	0.0:0.8495:0.0:0.1505	.	1201	Q9Y2L5	TPPC8_HUMAN	Q	1201	ENSP00000283351:R1201Q	ENSP00000283351:R1201Q	R	-	2	0	TRAPPC8	27683660	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.731000	0.47343	2.776000	0.95493	0.655000	0.94253	CGA	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255355.1		-	ENST00000283351.4	Missense_Mutation	SNP	18 : 29429662 - 29429662 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	333	61
JAK2	3717	broad.mit.edu	37	9	5073726	5073726	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5073726G>T	ENST00000381652.3	+	14	2299	c.1805G>T	c.(1804-1806)aGc>aTc	p.S602I	JAK2_ENST00000539801.1_Missense_Mutation_p.S602I|JAK2_ENST00000544510.1_Missense_Mutation_p.S453I	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	602	Protein kinase 1.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		AGTATGATGAGCAAGCTTTCT	0.353		1	T, Mis, O	ETV6, PCM1, BCR	ALL, AML, MPD,  CML				Polycythemia Vera, Familial					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		9	9p24	3717	Janus kinase 2		L	0													111	124	119			NA	NA	9		NA											NA				5073726		2203	4299	6502	SO:0001583	missense	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	3717	3717	2.7.10.1	SH2 domain containing	6192	protein-coding gene	gene with protein product		147796			NA	1848670	Standard		NM_004972	NA	Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1805G>T	9.37:g.5073726G>T	ENSP00000371067:p.Ser602Ile	NA	O14636|O75297	37	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350840	0.82132	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	D;D;D	0.83419	-1.72;-1.72;-1.72	5.51	5.51	0.81932	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.038094	0.85682	D	0.000000	D	0.92453	0.7604	M	0.89163	3.01	0.80722	D	1	D	0.63880	0.993	D	0.65773	0.938	D	0.93483	0.6829	10	0.87932	D	0	-13.7575	19.4075	0.94653	0.0:0.0:1.0:0.0	.	602	O60674	JAK2_HUMAN	I	602;602;453	ENSP00000440387:S602I;ENSP00000371067:S602I;ENSP00000443103:S453I	ENSP00000371067:S602I	S	+	2	0	JAK2	5063726	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.442000	0.80503	2.583000	0.87209	0.591000	0.81541	AGC	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051609.1		+	ENST00000381652.3	Missense_Mutation	SNP	9 : 5073726 - 5073726 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	886	111
MAP3K1	4214	broad.mit.edu	37	5	56181885	56181885	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56181885T>C	ENST00000399503.3	+	17	4109	c.4109T>C	c.(4108-4110)gTc>gCc	p.V1370A		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1370	Protein kinase.				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CACAGAGATGTCAAAGGTGAG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	75	78			NA	NA	5		NA											NA				56181885		1823	4074	5897	SO:0001583	missense			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015	4214	4214		Mitogen-activated protein kinase cascade / Kinase kinase kinases	6848	protein-coding gene	gene with protein product		600982	mitogen-activated protein kinase kinase kinase 1	MEKK1	NA	8597633	Standard	XM_042066	NM_005921	NA	Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.4109T>C	5.37:g.56181885T>C	ENSP00000382423:p.Val1370Ala	NA		37	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	T	18.70	3.680857	0.68042	.	.	ENSG00000095015	ENST00000399503	T	0.27104	1.69	5.75	5.75	0.90469	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.082046	0.52532	D	0.000071	T	0.44623	0.1302	M	0.93420	3.415	0.47441	D	0.999429	P	0.38280	0.625	B	0.37508	0.252	T	0.58912	-0.7552	10	0.87932	D	0	.	16.0623	0.80847	0.0:0.0:0.0:1.0	.	1370	Q13233	M3K1_HUMAN	A	1370	ENSP00000382423:V1370A	ENSP00000382423:V1370A	V	+	2	0	MAP3K1	56217642	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.654000	0.74387	2.195000	0.70347	0.533000	0.62120	GTC	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132309.2		+	ENST00000399503.3	Missense_Mutation	SNP	5 : 56181885 - 56181885 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	541	57
DUS1L	64118	broad.mit.edu	37	17	80019817	80019817	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80019817G>T	ENST00000354321.7	-	5	1038	c.553C>A	c.(553-555)Ctg>Atg	p.L185M	DUS1L_ENST00000306796.5_Missense_Mutation_p.L185M			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	185					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GCACCCGACAGGGGCCCCTTC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	104	108			NA	NA	17		NA											NA				80019817		2203	4300	6503	SO:0001583	missense				CCDS32775.1	17q25.3	2005-08-09				ENSG00000169718	64118	64118			30086	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_022156	NM_022156	NA	Approved	PP3111, DUS1	uc002kdr.4	Q6P1R4		ENST00000354321.7:c.553C>A	17.37:g.80019817G>T	ENSP00000346280:p.Leu185Met	NA	A6NHV4|Q96AI3	37	CCDS32775.1	.	.	.	.	.	.	.	.	.	.	G	9.380	1.072704	0.20147	.	.	ENSG00000169718	ENST00000354321;ENST00000306796;ENST00000542088;ENST00000538833	T;T;T	0.29655	1.56;1.56;1.56	4.08	-1.31	0.09230	Aldolase-type TIM barrel (1);	0.288040	0.33650	N	0.004681	T	0.26629	0.0651	M	0.65498	2.005	0.38905	D	0.957412	B;B;B	0.28760	0.058;0.005;0.221	B;B;B	0.33846	0.171;0.09;0.152	T	0.03739	-1.1008	10	0.34782	T	0.22	-10.5432	4.7951	0.13269	0.2839:0.0:0.5745:0.1416	.	58;185;54	B4DPG7;Q6P1R4;Q9BTJ3	.;DUS1L_HUMAN;.	M	185;185;58;53	ENSP00000346280:L185M;ENSP00000303515:L185M;ENSP00000445110:L53M	ENSP00000303515:L185M	L	-	1	2	DUS1L	77613106	0.953000	0.32496	0.350000	0.25708	0.706000	0.40770	1.464000	0.35288	-0.360000	0.08138	0.551000	0.68910	CTG	DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442347.1		-	ENST00000354321.7	Missense_Mutation	SNP	17 : 80019817 - 80019817 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	789	103
GEN1	348654	broad.mit.edu	37	2	17959282	17959282	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17959282C>T	ENST00000381254.2	+	12	1430	c.1216C>T	c.(1216-1218)Cga>Tga	p.R406*	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Nonsense_Mutation_p.R406*	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	406					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGTTAAGACTCGAATCAGAAA	0.269		NA						Homologous recombination						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	84	82			NA	NA	2		NA											NA				17959282		2199	4269	6468	SO:0001587	stop_gained			AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295	348654	348654			26881	protein-coding gene	gene with protein product	Holliday junction resolvase	612449	Gen endonuclease homolog 1 (Drosophila)		NA	15576351	Standard	NM_182625	NM_182625	NA	Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.1216C>T	2.37:g.17959282C>T	ENSP00000370653:p.Arg406*	NA	Q17RS9|Q6ZN37	37	CCDS1691.1	.	.	.	.	.	.	.	.	.	.	C	38	6.665361	0.97747	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000528873;ENST00000536097	.	.	.	5.21	3.34	0.38264	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.2737	12.8916	0.58073	0.4272:0.5728:0.0:0.0	.	.	.	.	X	406;406;177;43	.	ENSP00000318977:R406X	R	+	1	2	GEN1	17822763	0.979000	0.34478	0.687000	0.30102	0.853000	0.48598	2.467000	0.45093	0.637000	0.30526	-0.181000	0.13052	CGA	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000241661.2		+	ENST00000381254.2	Nonsense_Mutation	SNP	2 : 17959282 - 17959282 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	397	82
IGSF9B	22997	broad.mit.edu	37	11	133795814	133795814	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133795814C>T	ENST00000533871.2	-	14	2084	c.1854G>A	c.(1852-1854)ccG>ccA	p.P618P	IGSF9B_ENST00000321016.8_Silent_p.P618P	NM_001277285.1	NP_001264214.1	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	618	Fibronectin type-III 2.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TGAGGCACCTCGGTGGGGTGA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	41	39			NA	NA	11		NA											NA				133795814		2047	4203	6250	SO:0001819	synonymous_variant			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20			22997	22997		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	32326	protein-coding gene	gene with protein product		613773			NA		Standard	XM_290502	NM_001277285	NA	Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000533871.2:c.1854G>A	11.37:g.133795814C>T		NA		37																																																																																				IGSF9B-002	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000471431.1		-	ENST00000533871.2	Silent	SNP	11 : 133795814 - 133795814 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	99	15
TYR	7299	broad.mit.edu	37	11	89017970	89017970	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89017970G>A	ENST00000263321.5	+	4	1716	c.1214G>A	c.(1213-1215)cGt>cAt	p.R405H		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	405			R -> L (in OCA1A).		eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CGAAGGCACCGTCCTCTTCAA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM041480	TYR	M							65	66	65			NA	NA	11		NA											NA				89017970		2201	4299	6500	SO:0001583	missense			M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	7299	7299	1.14.18.1		12442	protein-coding gene	gene with protein product	oculocutaneous albinism IA	606933			NA		Standard	NM_000372	NM_000372	NA	Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.1214G>A	11.37:g.89017970G>A	ENSP00000263321:p.Arg405His	NA	Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	37	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	G	9.367	1.069557	0.20147	.	.	ENSG00000077498	ENST00000263321	D	0.98862	-5.19	4.68	-0.449	0.12226	Uncharacterised domain, di-copper centre (2);	0.493212	0.19908	N	0.103354	D	0.95182	0.8438	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	D	0.84679	0.0716	9	.	.	.	.	15.3426	0.74309	0.1635:0.0:0.8365:0.0	.	405	P14679	TYRO_HUMAN	H	405	ENSP00000263321:R405H	.	R	+	2	0	TYR	88657618	0.015000	0.18098	0.017000	0.16124	0.879000	0.50718	1.025000	0.30090	-0.284000	0.09102	-1.164000	0.01763	CGT	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394045.2		+	ENST00000263321.5	Missense_Mutation	SNP	11 : 89017970 - 89017970 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	390	71
GPR152	390212	broad.mit.edu	37	11	67219976	67219976	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67219976C>T	ENST00000312457.2	-	1	224	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	CABP4_ENST00000438189.2_5'UTR|CABP4_ENST00000542025.2_3'UTR	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	74						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			TCAGAGAGGGCCAGGCTGAGC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(102;800 1581 2723 7382 33622)							NA				0													17	18	18			NA	NA	11		NA											NA				67219976		2200	4291	6491	SO:0001583	missense			AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514	390212	390212		GPCR / Class A : Orphans	23622	protein-coding gene	gene with protein product					NA	12679517	Standard		NM_206997	NA	Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.220G>A	11.37:g.67219976C>T	ENSP00000310255:p.Ala74Thr	NA	Q0VD88|Q86SM0	37	CCDS8165.1	.	.	.	.	.	.	.	.	.	.	C	34	5.358546	0.95854	.	.	ENSG00000175514	ENST00000312457	T	0.56103	0.48	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39544	N	0.001330	T	0.67674	0.2918	L	0.52905	1.665	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.70490	-0.4857	10	0.87932	D	0	.	15.6211	0.76808	0.0:1.0:0.0:0.0	.	74	Q8TDT2	GP152_HUMAN	T	74	ENSP00000310255:A74T	ENSP00000310255:A74T	A	-	1	0	GPR152	66976552	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.199000	0.58426	2.542000	0.85734	0.561000	0.74099	GCC	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397623.1		-	ENST00000312457.2	Missense_Mutation	SNP	11 : 67219976 - 67219976 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	104	7
SVEP1	79987	broad.mit.edu	37	9	113312282	113312282	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113312282G>A	ENST00000374469.1	-	2	828	c.565C>T	c.(565-567)Cga>Tga	p.R189*	SVEP1_ENST00000374461.1_Nonsense_Mutation_p.R189*|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000401783.2_Nonsense_Mutation_p.R212*|SVEP1_ENST00000302728.8_Nonsense_Mutation_p.R212*			Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	212	VWFA.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCTGAATCTCGCAGTGACGCT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	141	142			NA	NA	9		NA											NA				113312282		1941	4157	6098	SO:0001587	stop_gained			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124	79987	79987			15985	protein-coding gene	gene with protein product		611691	chromosome 9 open reading frame 13	C9orf13	NA		Standard		NM_153366	NA	Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000374469.1:c.565C>T	9.37:g.113312282G>A	ENSP00000363593:p.Arg189*	NA	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	37		.	.	.	.	.	.	.	.	.	.	G	40	8.528289	0.98850	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	.	.	.	5.5	-6.26E-4	0.14038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.5394	0.84381	0.0:0.0:0.4206:0.5794	.	.	.	.	X	212;189;212;189	.	ENSP00000304118:R212X	R	-	1	2	SVEP1	112352103	1.000000	0.71417	0.419000	0.26584	0.646000	0.38490	2.723000	0.47277	-0.197000	0.10350	0.563000	0.77884	CGA	SVEP1-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000053622.1		-	ENST00000374469.1	Nonsense_Mutation	SNP	9 : 113312282 - 113312282 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	512	114
OSBPL7	114881	broad.mit.edu	37	17	45886509	45886509	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45886509G>T	ENST00000007414.3	-	20	2294	c.2103C>A	c.(2101-2103)ctC>ctA	p.L701L	OSBPL7_ENST00000392507.3_Silent_p.L701L	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	701					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						ACTTCCCAAAGAGTCGGTGGA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	55	54			NA	NA	17		NA											NA				45886509		2203	4300	6503	SO:0001819	synonymous_variant			AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025	114881	114881		Oxysterol binding proteins, Pleckstrin homology (PH) domain containing	16387	protein-coding gene	gene with protein product		606735			NA	14593528, 11735225	Standard	NM_017731	NM_145798	NA	Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.2103C>A	17.37:g.45886509G>T		NA	D3DTT6	37	CCDS11515.1																																																																																			OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000441367.1		-	ENST00000007414.3	Silent	SNP	17 : 45886509 - 45886509 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	381	71
ECE2	9718	broad.mit.edu	37	3	183994316	183994316	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183994316G>T	ENST00000404464.3	+	2	225	c.87G>T	c.(85-87)gaG>gaT	p.E29D	ECE2_ENST00000357474.5_Missense_Mutation_p.E29D|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000402825.3_Intron|ECE2_ENST00000359140.4_Intron	NM_001100120.1|NM_001100121.1	NP_001093590.1|NP_001093591.1	O60344	ECE2_HUMAN	endothelin converting enzyme 2	0	Methyltransferase-like region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACGCACCCGAGACCCCCGTAG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	21	20			NA	NA	3		NA											NA				183994316		1937	4103	6040	SO:0001583	missense			AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194	9718	9718			13275	protein-coding gene	gene with protein product		610145			NA	11718899	Standard	NM_014693	NM_032331	NA	Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000404464.3:c.87G>T	3.37:g.183994316G>T	ENSP00000385846:p.Glu29Asp	NA	A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	37	CCDS46969.1	.	.	.	.	.	.	.	.	.	.	G	4.458	0.084741	0.08583	.	.	ENSG00000145194	ENST00000404464;ENST00000357474	D;D	0.86164	-1.6;-2.08	3.76	3.76	0.43208	.	0.243031	0.36482	N	0.002563	T	0.69522	0.3120	N	0.04880	-0.145	0.40040	D	0.975649	B;B;B	0.17667	0.023;0.0;0.004	B;B;B	0.19666	0.026;0.001;0.006	T	0.63189	-0.6693	10	0.12766	T	0.61	.	8.3464	0.32275	0.1115:0.0:0.8885:0.0	.	29;29;29	B7Z1P1;O60344-2;O60344-5	.;.;.	D	29	ENSP00000385846:E29D;ENSP00000350066:E29D	ENSP00000350066:E29D	E	+	3	2	ECE2	185477010	0.650000	0.27331	0.992000	0.48379	0.819000	0.46315	0.506000	0.22658	1.934000	0.56057	0.462000	0.41574	GAG	ECE2-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318876.1		+	ENST00000404464.3	Missense_Mutation	SNP	3 : 183994316 - 183994316 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	124	28
TCERG1L	256536	broad.mit.edu	37	10	132891434	132891434	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:132891434T>G	ENST00000368642.4	-	12	1837	c.1752A>C	c.(1750-1752)aaA>aaC	p.K584N		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	584										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CTCATCTCATTTTCCGCAGCC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	110	111			NA	NA	10		NA											NA				132891434		2203	4300	6503	SO:0001583	missense			AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769	256536	256536			23533	protein-coding gene	gene with protein product					NA		Standard	NM_174937	NM_174937	NA	Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.1752A>C	10.37:g.132891434T>G	ENSP00000357631:p.Lys584Asn	NA	Q5VWI2|Q86XM8	37	CCDS7662.2	.	.	.	.	.	.	.	.	.	.	T	20.2	3.951676	0.73787	.	.	ENSG00000176769	ENST00000368642	T	0.32515	1.45	4.91	-0.0918	0.13659	.	0.000000	0.53938	D	0.000044	T	0.40398	0.1115	L	0.54323	1.7	0.53688	D	0.999972	D	0.69078	0.997	P	0.60789	0.879	T	0.16276	-1.0408	10	0.87932	D	0	-1.323	8.3344	0.32206	0.0:0.332:0.0:0.668	.	584	Q5VWI1	TCRGL_HUMAN	N	584	ENSP00000357631:K584N	ENSP00000357631:K584N	K	-	3	2	TCERG1L	132781424	0.991000	0.36638	0.985000	0.45067	0.984000	0.73092	0.118000	0.15605	-0.280000	0.09154	0.460000	0.39030	AAA	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091619.2		-	ENST00000368642.4	Missense_Mutation	SNP	10 : 132891434 - 132891434 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	305	49
ASB2	51676	broad.mit.edu	37	14	94417504	94417504	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94417504C>T	ENST00000555019.1	-	6	1151	c.721G>A	c.(721-723)Gct>Act	p.A241T	ASB2_ENST00000556337.1_Intron|ASB2_ENST00000315988.4_Missense_Mutation_p.A193T	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	193					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		TCGTGCAGAGCGGTCCAGCCG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	60	64			NA	NA	14		NA											NA				94417504		2203	4300	6503	SO:0001583	missense			AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25				51676	51676		Ankyrin repeat domain containing	16012	protein-coding gene	gene with protein product		605759	ankyrin repeat and SOCS box-containing 2		NA		Standard		NM_016150	NA	Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000555019.1:c.721G>A	14.37:g.94417504C>T	ENSP00000451575:p.Ala241Thr	NA	B2RDP9|Q9NSU5|Q9Y567	37	CCDS55940.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203926	0.79127	.	.	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988;ENST00000543546;ENST00000555507;ENST00000556062	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.42	5.62	5.62	0.85841	Ankyrin repeat-containing domain (4);	0.052587	0.85682	D	0.000000	D	0.83408	0.5248	M	0.62154	1.92	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.996	D	0.84003	0.0344	10	0.66056	D	0.02	-21.6007	19.6758	0.95932	0.0:1.0:0.0:0.0	.	209;241;193	B3KPZ6;B4E166;Q96Q27	.;.;ASB2_HUMAN	T	241;209;193;139;139;87	ENSP00000451575:A241T;ENSP00000320675:A193T;ENSP00000450940:A139T;ENSP00000451694:A87T	ENSP00000320675:A193T	A	-	1	0	ASB2	93487257	0.998000	0.40836	0.195000	0.23364	0.494000	0.33585	3.876000	0.56115	2.644000	0.89710	0.561000	0.74099	GCT	ASB2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412844.1		-	ENST00000555019.1	Missense_Mutation	SNP	14 : 94417504 - 94417504 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	451	46
ZDHHC17	23390	broad.mit.edu	37	12	77239525	77239525	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:77239525T>C	ENST00000426126.2	+	13	2015	c.1366T>C	c.(1366-1368)Tgc>Cgc	p.C456R	ZDHHC17_ENST00000550789.1_3'UTR|ZDHHC17_ENST00000334822.5_Missense_Mutation_p.C456R	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	456					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TTGTGGTGTGTGCAACCGCTG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													192	191	191			NA	NA	12		NA											NA				77239525		1877	4100	5977	SO:0001583	missense			AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908	23390	23390		Zinc fingers, DHHC-type, Ankyrin repeat domain containing	18412	protein-coding gene	gene with protein product		607799			NA	9700202, 18794299	Standard	NM_015336	NM_015336	NA	Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.1366T>C	12.37:g.77239525T>C	ENSP00000403397:p.Cys456Arg	NA	B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	37	CCDS44946.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.796274	0.90453	.	.	ENSG00000186908	ENST00000426126;ENST00000334822	T;T	0.62364	0.03;0.03	5.48	5.48	0.80851	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.085644	0.85682	D	0.000000	D	0.84524	0.5491	H	0.97131	3.945	0.80722	D	1	P	0.50943	0.94	P	0.59761	0.863	D	0.89798	0.3973	10	0.87932	D	0	-9.4291	15.861	0.79021	0.0:0.0:0.0:1.0	.	456	Q8IUH5	ZDH17_HUMAN	R	456	ENSP00000403397:C456R;ENSP00000334868:C456R	ENSP00000334868:C456R	C	+	1	0	ZDHHC17	75763656	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.860000	0.86993	2.198000	0.70561	0.528000	0.53228	TGC	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406555.1		+	ENST00000426126.2	Missense_Mutation	SNP	12 : 77239525 - 77239525 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	622	98
DGCR6	8214	broad.mit.edu	37	22	18898435	18898435	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18898435C>T	ENST00000331444.6	+	4	559	c.407C>T	c.(406-408)gCg>gTg	p.A136V	DGCR6_ENST00000436645.1_3'UTR|DGCR6_ENST00000413981.1_5'UTR	NM_005675.4	NP_005666.2	Q14129	DGCR6_HUMAN	DiGeorge syndrome critical region gene 6	136					cell adhesion|organ morphogenesis	nucleus|proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1)	3						GAGCAGCGGGCGATGGACCAG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	69	74			NA	NA	22		NA											NA				18898435		2203	4298	6501	SO:0001583	missense			X96484	CCDS13753.1	22q11.21	2008-06-12			ENSG00000183628	ENSG00000183628	8214	8214			2846	protein-coding gene	gene with protein product		601279			NA	8733130	Standard	NM_005675	NM_005675	NA	Approved		uc002zoh.4	Q14129	OTTHUMG00000150162	ENST00000331444.6:c.407C>T	22.37:g.18898435C>T	ENSP00000331681:p.Ala136Val	NA	B2RCH5|D3DX15|Q9BY28	37	CCDS13753.1	.	.	.	.	.	.	.	.	.	.	c	13.02	2.111898	0.37242	.	.	ENSG00000183628	ENST00000331444;ENST00000436645	T	0.30182	1.54	4.84	3.8	0.43715	.	0.137408	0.64402	D	0.000006	T	0.18718	0.0449	L	0.34521	1.04	0.22066	N	0.999382	P	0.38767	0.646	B	0.31495	0.131	T	0.20371	-1.0277	10	0.56958	D	0.05	-12.7504	8.0617	0.30638	0.0:0.8115:0.0:0.1885	.	136	Q14129	DGCR6_HUMAN	V	136;56	ENSP00000331681:A136V	ENSP00000331681:A136V	A	+	2	0	DGCR6	17278435	0.300000	0.24435	0.838000	0.33150	0.545000	0.35147	2.182000	0.42556	2.421000	0.82119	0.430000	0.28490	GCG	DGCR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316631.2		+	ENST00000331444.6	Missense_Mutation	SNP	22 : 18898435 - 18898435 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	306	49
CBX3	11335	broad.mit.edu	37	7	26251332	26251332	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:26251332T>C	ENST00000337620.4	+	5	809	c.381T>C	c.(379-381)atT>atC	p.I127I	CBX3_ENST00000497498.1_3'UTR|CBX3_ENST00000409747.1_3'UTR|CBX3_ENST00000396386.2_Silent_p.I127I	NM_007276.4	NP_009207.2	Q13185	CBX3_HUMAN	chromobox homolog 3	127	Chromo 2; shadow subtype.				chromatin remodeling|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome, centromeric region|nuclear centromeric heterochromatin|nuclear euchromatin|nuclear inner membrane|spindle	enzyme binding|protein domain specific binding			endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						AAAGAATAATTGGTGCCACAG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	74	74			NA	NA	7		NA											NA				26251332		2203	4298	6501	SO:0001819	synonymous_variant			U26312	CCDS5398.1	7p15.2	2010-07-06	2010-06-24		ENSG00000122565	ENSG00000122565	11335	11335			1553	protein-coding gene	gene with protein product	HP1 gamma homolog (Drosophila)	604477	chromobox homolog 3 (Drosophila HP1 gamma)		NA	8663349	Standard	NM_007276	NM_016587	NA	Approved	HP1Hs-gamma	uc003sxu.3	Q13185	OTTHUMG00000022911	ENST00000337620.4:c.381T>C	7.37:g.26251332T>C		NA	Q96CD7|Q99409|Q9BVS3|Q9P0Z6	37	CCDS5398.1																																																																																			CBX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214117.1		+	ENST00000337620.4	Silent	SNP	7 : 26251332 - 26251332 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	383	69
SNX9	51429	broad.mit.edu	37	6	158349734	158349734	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158349734C>T	ENST00000392185.3	+	12	1459	c.1288C>T	c.(1288-1290)Cca>Tca	p.P430S		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	430	BAR.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		CTGCACGGGCCGTAAGTCCAC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	37	42			NA	NA	6		NA											NA				158349734		2203	4299	6502	SO:0001630	splice_region_variant			AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340	51429	51429		Sorting nexins	14973	protein-coding gene	gene with protein product		605952			NA	10531379, 17609109	Standard		NM_016224	NA	Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.1288+1C>T	6.37:g.158349734C>T		NA	Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	37	CCDS5253.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.709995	0.30322	.	.	ENSG00000130340	ENST00000539592;ENST00000392185;ENST00000252631	T	0.43688	0.94	4.89	4.89	0.63831	Sorting nexin protein, WASP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.43478	0.1249	L	0.52364	1.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.38222	-0.9671	10	0.06365	T	0.9	-14.4141	18.0411	0.89319	0.0:1.0:0.0:0.0	.	430	Q9Y5X1	SNX9_HUMAN	S	430;430;230	ENSP00000376024:P430S	ENSP00000252631:P230S	P	+	1	0	SNX9	158269722	1.000000	0.71417	0.978000	0.43139	0.189000	0.23516	4.415000	0.59809	2.263000	0.75096	0.467000	0.42956	CCA	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042856.1	Missense_Mutation	+	ENST00000392185.3	Splice_Site	SNP	6 : 158349734 - 158349734 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	85	17
PIP4K2B	8396	broad.mit.edu	37	17	36926743	36926743	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:36926743C>T	ENST00000269554.3	-	9	1596	c.1116G>A	c.(1114-1116)acG>acA	p.T372T		NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	372	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						TATCGTATGGCGTGAGGATAT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													224	198	207			NA	NA	17		NA											NA				36926743		2203	4300	6503	SO:0001819	synonymous_variant			U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	8396	8396	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	phosphatidylinositol-4-phosphate 5-kinase, type II, beta	PIP5K2B	NA	9038203, 14691457, 9367159	Standard	NM_003559	NM_003559	NA	Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.1116G>A	17.37:g.36926743C>T		NA	Q5U0E8|Q8TBP2	37	CCDS11329.1																																																																																			PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256791.1		-	ENST00000269554.3	Silent	SNP	17 : 36926743 - 36926743 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	869	76
ZNF749	388567	broad.mit.edu	37	19	57956765	57956765	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57956765C>A	ENST00000334181.4	+	3	2499	c.2249C>A	c.(2248-2250)tCt>tAt	p.S750Y	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	750					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		GGAGAAAGGTCTTATGAGTGT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	109	107			NA	NA	19		NA											NA				57956765		2203	4300	6503	SO:0001583	missense			AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230	388567	388567		Zinc fingers, C2H2-type, -	32783	protein-coding gene	gene with protein product					NA		Standard	NM_001023561	NM_001023561	NA	Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.2249C>A	19.37:g.57956765C>A	ENSP00000333980:p.Ser750Tyr	NA		37	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	-	6.715	0.500702	0.12822	.	.	ENSG00000186230	ENST00000334181	T	0.01647	4.71	1.59	-0.791	0.10929	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02156	0.0067	L	0.55103	1.725	0.09310	N	0.999996	B	0.23540	0.087	B	0.14578	0.011	T	0.39482	-0.9612	9	0.87932	D	0	.	5.8944	0.18931	0.0:0.55:0.0:0.45	.	750	O43361	ZN749_HUMAN	Y	750	ENSP00000333980:S750Y	ENSP00000333980:S750Y	S	+	2	0	ZNF749	62648577	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	0.050000	0.14120	-0.160000	0.11002	-0.657000	0.03884	TCT	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317879.1		+	ENST00000334181.4	Missense_Mutation	SNP	19 : 57956765 - 57956765 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	546	92
TRAPPC10	7109	broad.mit.edu	37	21	45507691	45507691	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45507691C>T	ENST00000291574.4	+	17	2826	c.2651C>T	c.(2650-2652)tCt>tTt	p.S884F		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	884					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GAAGTTCTCTCTTTACCTTCA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	92	97			NA	NA	21		NA											NA				45507691		2203	4300	6503	SO:0001583	missense			U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218	7109	7109		Trafficking protein particle complex	11868	protein-coding gene	gene with protein product	trafficking protein particle complex subunit 130, TRAPP 130 kDa subunit	602103	transmembrane protein 1	TMEM1	NA	7633421	Standard	NM_003274	NM_003274	NA	Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.2651C>T	21.37:g.45507691C>T	ENSP00000291574:p.Ser884Phe	NA	Q3MIR2|Q9UMD4|Q9Y4L3	37	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491547	0.44249	.	.	ENSG00000160218	ENST00000291574	T	0.23552	1.9	4.9	3.95	0.45737	.	0.114895	0.64402	D	0.000015	T	0.13030	0.0316	N	0.14661	0.345	0.39632	D	0.970182	B	0.25955	0.138	B	0.17979	0.02	T	0.08513	-1.0718	10	0.40728	T	0.16	.	7.5482	0.27778	0.2916:0.5759:0.1325:0.0	.	884	P48553	TPC10_HUMAN	F	884	ENSP00000291574:S884F	ENSP00000291574:S884F	S	+	2	0	TRAPPC10	44332119	1.000000	0.71417	0.903000	0.35520	0.980000	0.70556	3.821000	0.55700	2.267000	0.75376	0.563000	0.77884	TCT	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195737.1		+	ENST00000291574.4	Missense_Mutation	SNP	21 : 45507691 - 45507691 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	380	83
WDR16	146845	broad.mit.edu	37	17	9538792	9538792	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9538792T>C	ENST00000352665.5	+	11	1460	c.1391T>C	c.(1390-1392)gTg>gCg	p.V464A	WDR16_ENST00000396219.3_Missense_Mutation_p.V396A|WDR16_ENST00000576714.1_3'UTR|WDR16_ENST00000299764.5_Missense_Mutation_p.V474A	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	464						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						AAGTCATCAGTGTCCTGCATT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													177	136	150			NA	NA	17		NA											NA				9538792		2203	4300	6503	SO:0001583	missense			AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596	146845	146845		WD repeat domain containing	16053	protein-coding gene	gene with protein product	WD40-repeat protein upregulated in HCC	609804			NA	15967112	Standard	NM_145054	NM_001080556	NA	Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.1391T>C	17.37:g.9538792T>C	ENSP00000339449:p.Val464Ala	NA	B2RDU7|Q5DX23|Q8TC73|Q8TCI3	37	CCDS11149.2	.	.	.	.	.	.	.	.	.	.	T	18.99	3.740766	0.69304	.	.	ENSG00000166596	ENST00000352665;ENST00000396219;ENST00000299764	T;T;T	0.73789	-0.78;-0.78;-0.78	5.08	5.08	0.68730	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.057202	0.64402	D	0.000002	D	0.89128	0.6627	H	0.94698	3.57	0.58432	D	0.999992	D;D;D	0.76494	0.996;0.998;0.999	D;D;D	0.71656	0.93;0.93;0.974	D	0.91646	0.5331	10	0.59425	D	0.04	-19.7206	13.8542	0.63515	0.0:0.0:0.0:1.0	.	474;396;464	Q8N1V2-2;Q8N1V2-3;Q8N1V2	.;.;WDR16_HUMAN	A	464;396;474	ENSP00000339449:V464A;ENSP00000379521:V396A;ENSP00000299764:V474A	ENSP00000299764:V474A	V	+	2	0	WDR16	9479517	1.000000	0.71417	0.995000	0.50966	0.252000	0.25951	7.492000	0.81482	1.907000	0.55213	0.533000	0.62120	GTG	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316569.2		+	ENST00000352665.5	Missense_Mutation	SNP	17 : 9538792 - 9538792 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	345	66
CHST9	83539	broad.mit.edu	37	18	24524299	24524299	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:24524299G>A	ENST00000284224.8	-	5	511	c.234C>T	c.(232-234)acC>acT	p.T78T	CHST9_ENST00000580774.1_Intron|CHST9_ENST00000581714.1_Silent_p.T78T|AQP4-AS1_ENST00000578701.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	78					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					ATACCTGGTTGGTGATATGTT	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	97	99			NA	NA	18		NA											NA				24524299		1810	4080	5890	SO:0001819	synonymous_variant			AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080	83539	83539		Sulfotransferases, membrane-bound	19898	protein-coding gene	gene with protein product		610191			NA	11139592, 11445554	Standard	NM_031422	NM_031422	NA	Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.234C>T	18.37:g.24524299G>A		NA	Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	37	CCDS42422.1																																																																																			CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000446549.1		-	ENST00000284224.8	Silent	SNP	18 : 24524299 - 24524299 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	64
CMIP	80790	broad.mit.edu	37	16	81703810	81703810	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81703810C>T	ENST00000537098.3	+	8	961	c.889C>T	c.(889-891)Ctc>Ttc	p.L297F	CMIP_ENST00000539778.2_Missense_Mutation_p.L203F|CMIP_ENST00000398040.4_Missense_Mutation_p.L144F|CMIP_ENST00000566513.1_3'UTR	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	263						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						CTTGAACGAGCTCAACGCGGG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	64	63			NA	NA	16		NA											NA				81703810		1996	4177	6173	SO:0001583	missense			AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815	80790	80790			24319	protein-coding gene	gene with protein product		610112			NA	11214970, 12939343	Standard	NM_030629	NM_030629	NA	Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.889C>T	16.37:g.81703810C>T	ENSP00000446100:p.Leu297Phe	NA	Q9C0G9	37	CCDS54044.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874812	0.72180	.	.	ENSG00000153815	ENST00000537098;ENST00000539778;ENST00000398040;ENST00000542097	T;T	0.10668	2.85;2.85	4.97	4.97	0.65823	.	0.000000	0.64402	D	0.000002	T	0.18964	0.0455	N	0.19112	0.55	0.54753	D	0.999988	D;D;D	0.69078	0.997;0.997;0.995	D;D;D	0.75484	0.986;0.986;0.979	T	0.02654	-1.1128	10	0.62326	D	0.03	.	13.5913	0.61961	0.0:0.9228:0.0:0.0771	.	144;203;297	Q8IY22-3;Q8IY22-2;Q8IY22	.;.;CMIP_HUMAN	F	297;203;203;110	ENSP00000446100:L297F;ENSP00000440401:L203F	ENSP00000381120:L203F	L	+	1	0	CMIP	80261311	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.522000	0.60539	2.298000	0.77334	0.467000	0.42956	CTC	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432399.2		+	ENST00000537098.3	Missense_Mutation	SNP	16 : 81703810 - 81703810 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	91	15
NXPE4	54827	broad.mit.edu	37	11	114465413	114465413	+	Translation_Start_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:114465413A>C	ENST00000424261.2	-	0	237				NXPE4_ENST00000375478.3_Missense_Mutation_p.I23M	NM_017678.2	NP_060148.2			neurexophilin and PC-esterase domain family, member 4	NA											NA						AAACTGTAAAAATGATCCAGG	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	120	122			NA	NA	11		NA											NA				114465413		1817	4069	5886					AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634	54827	54827			23117	protein-coding gene	gene with protein product			chromosome 11 open reading frame 33, family with sequence similarity 55, member D	C11orf33, FAM55D	NA	20056006	Standard	NM_017678	NM_017678	NA	Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000424261.2:c.-320T>G	11.37:g.114465413A>C		NA		37	CCDS44737.1	.	.	.	.	.	.	.	.	.	.	A	11.90	1.776184	0.31411	.	.	ENSG00000137634	ENST00000375478	T	0.14144	2.53	4.64	-2.81	0.05805	.	1.951620	0.02130	N	0.056316	T	0.10337	0.0253	L	0.34521	1.04	0.09310	N	1	P	0.43633	0.813	B	0.41988	0.372	T	0.16424	-1.0403	10	0.34782	T	0.22	.	1.5972	0.02666	0.2925:0.1455:0.0907:0.4713	.	23	Q6UWF7	FA55D_HUMAN	M	23	ENSP00000364627:I23M	ENSP00000364627:I23M	I	-	3	3	FAM55D	113970623	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.272000	0.18644	-0.240000	0.09696	-1.216000	0.01612	ATT	NXPE4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399178.1		-	ENST00000424261.2	De_novo_Start_OutOfFrame	SNP	11 : 114465413 - 114465413 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	586	95
PCSK2	5126	broad.mit.edu	37	20	17462277	17462277	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:17462277C>A	ENST00000262545.2	+	12	1794	c.1479C>A	c.(1477-1479)gcC>gcA	p.A493A	PCSK2_ENST00000536609.1_Silent_p.A458A|PCSK2_ENST00000377899.1_Silent_p.A474A|PCSK2_ENST00000459871.1_3'UTR	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	493					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAACCGACGCCTGTGAGGGGA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	114	117			NA	NA	20		NA											NA				17462277		2203	4300	6503	SO:0001819	synonymous_variant			AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851	5126	5126			8744	protein-coding gene	gene with protein product	neuroendocrine convertase 2, KEX2-like endoprotease 2	162151		NEC2	NA	1765368	Standard	NM_002594	NM_001201528	NA	Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1479C>A	20.37:g.17462277C>A		NA	Q14927|Q9NQG3|Q9NUG1|Q9UJC6	37	CCDS13125.1																																																																																			PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078120.2		+	ENST00000262545.2	Silent	SNP	20 : 17462277 - 17462277 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	541	105
ATP2B1	490	broad.mit.edu	37	12	89985005	89985005	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:89985005G>A	ENST00000428670.3	-	21	3875	c.3419C>T	c.(3418-3420)tCg>tTg	p.S1140L	ATP2B1_ENST00000393164.2_Missense_Mutation_p.S883L|RP11-981P6.1_ENST00000552778.1_RNA|ATP2B1_ENST00000359142.3_3'UTR|ATP2B1_ENST00000348959.3_Missense_Mutation_p.S1104L|ATP2B1_ENST00000261173.2_Missense_Mutation_p.S1140L			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1178					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	p.S1140L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						GTTGTGAATCGAACTTCTTGA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											137	127	130			NA	NA	12		NA											NA				89985005		2203	4299	6502	SO:0001583	missense			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	490	490	3.6.3.8	ATPases / P-type	814	protein-coding gene	gene with protein product	plasma membrane calcium-transporting ATPase 1	108731			NA	1674727	Standard	NM_001682	NM_001682	NA	Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.3419C>T	12.37:g.89985005G>A	ENSP00000392043:p.Ser1140Leu	NA	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	37	CCDS9035.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.26|17.26	3.344223|3.344223	0.61073|0.61073	.|.	.|.	ENSG00000070961|ENSG00000070961	ENST00000550716|ENST00000261173;ENST00000348959;ENST00000428670;ENST00000393164	.|T;T;T;T	.|0.80214	.|-1.35;-1.35;-1.35;-1.35	5.39|5.39	4.49|4.49	0.54785|0.54785	.|.	.|0.252429	.|0.41605	.|D	.|0.000851	.|D	.|0.90525	.|0.7031	M|M	0.87269|0.87269	2.87|2.87	0.80722|0.80722	D|D	1|1	.|D;B	.|0.76494	.|0.999;0.082	.|D;B	.|0.77557	.|0.99;0.031	.|D	.|0.91365	.|0.5115	.|10	.|0.48119	.|T	.|0.1	-15.288|-15.288	16.1779|16.1779	0.81874|0.81874	0.0:0.1335:0.8665:0.0|0.0:0.1335:0.8665:0.0	.|.	.|1140;1104	.|P20020-3;P20020-6	.|.;.	X|L	121|1140;1104;1140;883	.|ENSP00000261173:S1140L;ENSP00000343599:S1104L;ENSP00000392043:S1140L;ENSP00000376869:S883L	.|ENSP00000261173:S1140L	R|S	-|-	1|2	2|0	ATP2B1|ATP2B1	88509136|88509136	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.985000|0.985000	0.73830|0.73830	9.869000|9.869000	0.99810|0.99810	1.245000|1.245000	0.43885|0.43885	0.591000|0.591000	0.81541|0.81541	CGA|TCG	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406653.1		-	ENST00000428670.3	Missense_Mutation	SNP	12 : 89985005 - 89985005 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	474	92
ZIC1	7545	broad.mit.edu	37	3	147128793	147128793	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147128793C>T	ENST00000282928.4	+	1	1623	c.894C>T	c.(892-894)ggC>ggT	p.G298G		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	298					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TGCACACGGGCGAGAAGCCCT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	97	96			NA	NA	3		NA											NA				147128793		2203	4300	6503	SO:0001819	synonymous_variant			D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977	7545	7545		Zinc fingers, C2H2-type	12872	protein-coding gene	gene with protein product		600470	Zic family member 1 (odd-paired Drosophila homolog), Zic family member 1 (odd-paired homolog, Drosophila)		NA	8542595	Standard	NM_003412	NM_003412	NA	Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.894C>T	3.37:g.147128793C>T		NA	Q2M3N1	37	CCDS3136.1																																																																																			ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355497.1		+	ENST00000282928.4	Silent	SNP	3 : 147128793 - 147128793 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	523	21
SYCP2	10388	broad.mit.edu	37	20	58467404	58467404	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58467404T>G	ENST00000357552.3	-	24	2230	c.2005A>C	c.(2005-2007)Aaa>Caa	p.K669Q	SYCP2_ENST00000371001.2_Missense_Mutation_p.K669Q			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	669					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TATTTCACTTTTCCTGTTCCT	0.279		NA											T	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	0.0011	SNP								NA				0													83	84	84			NA	NA	20		NA											NA				58467404		2201	4298	6499	SO:0001583	missense			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074	10388	10388			11490	protein-coding gene	gene with protein product		604105			NA	10341103, 9592139	Standard	NM_014258	NM_014258	NA	Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.2005A>C	20.37:g.58467404T>G	ENSP00000350162:p.Lys669Gln	NA	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	37	CCDS13482.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	3.940	-0.014318	0.07681	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.18960	2.44;2.44;2.18	5.23	2.8	0.32819	.	0.728814	0.13007	N	0.421209	T	0.20901	0.0503	L	0.51422	1.61	0.09310	N	1	P	0.48016	0.904	P	0.44897	0.463	T	0.13764	-1.0497	10	0.66056	D	0.02	-5.6591	4.878	0.13665	0.1643:0.0938:0.0:0.7419	.	669	Q9BX26	SYCP2_HUMAN	Q	669	ENSP00000360040:K669Q;ENSP00000350162:K669Q;ENSP00000402456:K669Q	ENSP00000350162:K669Q	K	-	1	0	SYCP2	57900799	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	0.617000	0.24359	0.930000	0.37217	0.482000	0.46254	AAA	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079930.3		-	ENST00000357552.3	Missense_Mutation	SNP	20 : 58467404 - 58467404 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	364	13
TACR1	6869	broad.mit.edu	37	2	75425831	75425831	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:75425831G>A	ENST00000305249.5	-	1	995	c.230C>T	c.(229-231)gCg>gTg	p.A77V	TACR1_ENST00000409848.3_Missense_Mutation_p.A77V	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	NA					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	GGAGGCCTCCGCGAAGGCCAG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(64;62 1268 3653 14826 43765)							NA				0													166	140	149			NA	NA	2		NA											NA				75425831		2203	4300	6503	SO:0001583	missense			M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353	6869	6869		GPCR / Class A : Tachykinin receptors	11526	protein-coding gene	gene with protein product		162323		TAC1R	NA	1657150	Standard	NM_001058	NM_001058	NA	Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.230C>T	2.37:g.75425831G>A	ENSP00000303522:p.Ala77Val	NA	A8K150	37	CCDS1958.1	.	.	.	.	.	.	.	.	.	.	G	32	5.172573	0.94807	.	.	ENSG00000115353	ENST00000305249;ENST00000409848	T;T	0.79454	-1.27;-1.27	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.90242	0.6949	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91616	0.5307	10	0.87932	D	0	.	16.9498	0.86242	0.0:0.0:1.0:0.0	.	77	P25103	NK1R_HUMAN	V	77	ENSP00000303522:A77V;ENSP00000386448:A77V	ENSP00000303522:A77V	A	-	2	0	TACR1	75279339	1.000000	0.71417	0.971000	0.41717	0.985000	0.73830	9.595000	0.98260	2.854000	0.98071	0.655000	0.94253	GCG	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252239.3		-	ENST00000305249.5	Missense_Mutation	SNP	2 : 75425831 - 75425831 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	389	60
ZIM2	23619	broad.mit.edu	37	19	57286249	57286249	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57286249C>A	ENST00000391708.3	-	12	1933	c.1391G>T	c.(1390-1392)aGa>aTa	p.R464I	AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000221722.5_Missense_Mutation_p.R464I|ZIM2_ENST00000593711.1_Missense_Mutation_p.R464I|AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.R464I|ZIM2_ENST00000601070.1_Missense_Mutation_p.R464I	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2	NA										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		CTGGCAGGCTCTCTCTCCAAC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	70	76			NA	NA	19		NA											NA				57286249		2203	4300	6503	SO:0001583	missense			AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699	23619	23619		Zinc fingers, C2H2-type	12875	protein-coding gene	gene with protein product					NA		Standard		NM_015363	NA	Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.1391G>T	19.37:g.57286249C>A	ENSP00000375589:p.Arg464Ile	NA		37	CCDS33123.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.779564	0.31502	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.05199	3.48;3.48	4.96	-1.15	0.09709	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12433	0.0302	M	0.65498	2.005	.	.	.	D	0.54397	0.966	P	0.52159	0.691	T	0.22906	-1.0203	8	0.87932	D	0	.	8.1076	0.30896	0.0:0.3778:0.0:0.6222	.	464	Q9NZV7	ZIM2_HUMAN	I	464	ENSP00000375589:R464I;ENSP00000221722:R464I	ENSP00000221722:R464I	R	-	2	0	ZIM2	61978061	0.005000	0.15991	0.020000	0.16555	0.387000	0.30353	-0.750000	0.04808	0.007000	0.14760	0.655000	0.94253	AGA	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416094.2		-	ENST00000391708.3	Missense_Mutation	SNP	19 : 57286249 - 57286249 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	34
GPR98	84059	broad.mit.edu	37	5	90144584	90144584	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:90144584A>G	ENST00000405460.2	+	79	17246	c.17150A>G	c.(17149-17151)gAg>gGg	p.E5717G	GPR98_ENST00000425867.2_Missense_Mutation_p.E1378G	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5717					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAAGTGACTGAGAATTTTGCC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	99	101			NA	NA	5		NA											NA				90144584		1835	4087	5922	SO:0001583	missense			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199	84059	84059		-, GPCR / Class B : Orphans	17416	protein-coding gene	gene with protein product		602851	monogenic, audiogenic seizure susceptibility 1 homolog (mouse)	USH2C, MASS1	NA	10976914, 14740321	Standard	NM_032119	NM_032119	NA	Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.17150A>G	5.37:g.90144584A>G	ENSP00000384582:p.Glu5717Gly	NA	O75171|Q8TF58|Q9H0X5|Q9UL61	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	33	5.228007	0.95173	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.38887	1.11;1.15	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.63616	0.2526	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	T	0.62891	-0.6758	9	.	.	.	.	16.4237	0.83790	1.0:0.0:0.0:0.0	.	1378;5717;1378	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	G	5717;5717;1378	ENSP00000384582:E5717G;ENSP00000392618:E1378G	.	E	+	2	0	GPR98	90180340	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.602000	0.90868	2.279000	0.76181	0.533000	0.62120	GAG	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369993.2		+	ENST00000405460.2	Missense_Mutation	SNP	5 : 90144584 - 90144584 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	23
MUC4	4585	broad.mit.edu	37	3	195516521	195516521	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195516521G>A	ENST00000463781.3	-	2	2389	c.1930C>T	c.(1930-1932)Cag>Tag	p.Q644*	MUC4_ENST00000475231.1_Nonsense_Mutation_p.Q644*|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	649					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTGTGGTCTGCGGGGCTTGA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													265	273	270			NA	NA	3		NA											NA				195516521		2075	4202	6277	SO:0001587	stop_gained			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113	4585	4585		Mucins	7514	protein-coding gene	gene with protein product		158372	mucin 4, tracheobronchial		NA	1673336	Standard	NM_018406	NM_004532	NA	Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.1930C>T	3.37:g.195516521G>A	ENSP00000417498:p.Gln644*	NA	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	24.6	4.545486	0.86022	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	.	.	.	2.85	-3.41	0.04839	.	4.474510	0.00597	N	0.000360	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	1.7516	9.6298	0.39772	0.0:0.6311:0.2212:0.1476	.	.	.	.	X	644;644;618	.	ENSP00000376209:Q618X	Q	-	1	0	MUC4	197000916	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.088000	0.03379	-0.837000	0.04223	-0.184000	0.12912	CAG	MUC4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324081.6		-	ENST00000463781.3	Nonsense_Mutation	SNP	3 : 195516521 - 195516521 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	916	159
CCDC159	126075	broad.mit.edu	37	19	11465331	11465331	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11465331C>T	ENST00000588790.1	+	12	1295	c.848C>T	c.(847-849)tCc>tTc	p.S283F	CCDC159_ENST00000458408.1_Missense_Mutation_p.S283F			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159	398										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						CAGGACCTCTCCCAGCCACCT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	40	38			NA	NA	19		NA											NA				11465331		2192	4293	6485	SO:0001583	missense			BC038439	CCDS45976.1	19p13.2	2010-02-17			ENSG00000183401	ENSG00000183401	126075	126075			26996	protein-coding gene	gene with protein product					NA		Standard	NM_001080503	NM_001080503	NA	Approved		uc010xlt.2	P0C7I6		ENST00000588790.1:c.848C>T	19.37:g.11465331C>T	ENSP00000468232:p.Ser283Phe	NA	B4DEG3|B4DWR8|B4E133|B7ZAM4	37	CCDS45976.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.758685	0.49468	.	.	ENSG00000183401	ENST00000458408;ENST00000427879	T	0.53206	0.63	3.1	-0.664	0.11406	.	.	.	.	.	T	0.44746	0.1308	L	0.44542	1.39	0.09310	N	1	D;B	0.58620	0.983;0.002	P;B	0.53649	0.731;0.003	T	0.33904	-0.9850	9	0.72032	D	0.01	.	3.0227	0.06080	0.0:0.4741:0.237:0.2889	.	398;283	P0C7I6;P0C7I6-2	CC159_HUMAN;.	F	283;398	ENSP00000402239:S283F	ENSP00000390400:S398F	S	+	2	0	CCDC159	11326331	0.000000	0.05858	0.001000	0.08648	0.232000	0.25224	-0.499000	0.06413	0.182000	0.20032	-0.339000	0.08088	TCC	CCDC159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458761.1		+	ENST00000588790.1	Missense_Mutation	SNP	19 : 11465331 - 11465331 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	83	13
PCDHB7	56129	broad.mit.edu	37	5	140554707	140554707	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140554707T>A	ENST00000231137.3	+	1	2465	c.2291T>A	c.(2290-2292)tTt>tAt	p.F764Y		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	764					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGTTCAAGTTTCTGAAACCA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	123	109			NA	NA	5		NA											NA				140554707		2203	4300	6503	SO:0001583	missense			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212	56129	56129		Cadherins / Protocadherins : Clustered	8692	other	protocadherin		606333			NA	10380929	Standard	NM_018940	NM_018940	NA	Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2291T>A	5.37:g.140554707T>A	ENSP00000231137:p.Phe764Tyr	NA		37	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	T	13.70	2.314917	0.40996	.	.	ENSG00000113212	ENST00000231137	T	0.19105	2.17	4.33	3.14	0.36123	.	.	.	.	.	T	0.44498	0.1296	M	0.87900	2.915	0.35724	D	0.817379	D	0.63046	0.992	P	0.60415	0.874	T	0.61491	-0.7052	9	0.72032	D	0.01	.	10.0259	0.42070	0.0:0.0873:0.0:0.9127	.	764	Q9Y5E2	PCDB7_HUMAN	Y	764	ENSP00000231137:F764Y	ENSP00000231137:F764Y	F	+	2	0	PCDHB7	140534891	1.000000	0.71417	0.995000	0.50966	0.170000	0.22686	5.748000	0.68697	1.711000	0.51337	0.374000	0.22700	TTT	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251803.2		+	ENST00000231137.3	Missense_Mutation	SNP	5 : 140554707 - 140554707 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1099	98
XPO4	64328	broad.mit.edu	37	13	21383304	21383304	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21383304G>A	ENST00000255305.6	-	11	1482	c.1411C>T	c.(1411-1413)Cga>Tga	p.R471*	XPO4_ENST00000400602.2_Nonsense_Mutation_p.R471*			Q9C0E2	XPO4_HUMAN	exportin 4	471					protein transport	cytoplasm|nucleus	protein binding	p.R444*(1)		breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AACTGGTCTCGATCATCCTCT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Nonsense(1)	large_intestine(1)											132	126	128			NA	NA	13		NA											NA				21383304		1900	4121	6021	SO:0001587	stop_gained			AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953	64328	64328		Exportins	17796	protein-coding gene	gene with protein product		611449			NA	11214970, 10944119	Standard	NM_022459	NM_022459	NA	Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.1411C>T	13.37:g.21383304G>A	ENSP00000255305:p.Arg471*	NA	Q5VUZ5|Q8N3V6|Q9H934	37	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	G	37	6.147225	0.97324	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-5.4271	15.2559	0.73585	0.0:0.0:0.8274:0.1726	.	.	.	.	X	471;341;471	.	ENSP00000255305:R471X	R	-	1	2	XPO4	20281304	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.016000	0.49607	2.885000	0.99019	0.655000	0.94253	CGA	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044096.1		-	ENST00000255305.6	Nonsense_Mutation	SNP	13 : 21383304 - 21383304 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	501	64
VPS13B	157680	broad.mit.edu	37	8	100789061	100789061	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:100789061C>A	ENST00000358544.2	+	41	7492	c.7381C>A	c.(7381-7383)Ctg>Atg	p.L2461M	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.L2436M	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2461					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCCAACAGCCCTGGCTGCCTG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(161;2205 2542 7338 31318)							NA				0													212	171	185			NA	NA	8		NA											NA				100789061		2203	4300	6503	SO:0001583	missense			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549	157680	157680			2183	protein-coding gene	gene with protein product		607817	Cohen syndrome 1	CHS1, COH1	NA	7920642, 15498460	Standard	NM_184042	NM_181661	NA	Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.7381C>A	8.37:g.100789061C>A	ENSP00000351346:p.Leu2461Met	NA	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.653464	0.67472	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	D;D	0.85556	-1.99;-2.0	5.52	4.64	0.57946	.	0.000000	0.64402	D	0.000002	D	0.89691	0.6788	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	D	0.89445	0.3726	10	0.72032	D	0.01	.	8.0438	0.30536	0.0:0.778:0.0:0.222	.	2436;2461	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	M	2436;2461	ENSP00000349685:L2436M;ENSP00000351346:L2461M	ENSP00000349685:L2436M	L	+	1	2	VPS13B	100858237	0.679000	0.27596	1.000000	0.80357	0.998000	0.95712	0.751000	0.26348	2.583000	0.87209	0.650000	0.86243	CTG	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277138.1		+	ENST00000358544.2	Missense_Mutation	SNP	8 : 100789061 - 100789061 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	760	74
CEP152	22995	broad.mit.edu	37	15	49081138	49081138	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49081138C>T	ENST00000380950.2	-	9	1220	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N	CEP152_ENST00000399334.3_Missense_Mutation_p.D345N|CEP152_ENST00000325747.5_Missense_Mutation_p.D252N	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	345					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TGATGAAGGTCCACCAGCTGC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	152	156			NA	NA	15		NA											NA				49081138		1941	4143	6084	SO:0001583	missense			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20					22995	22995			29298	protein-coding gene	gene with protein product	asterless	613529	microcephaly, primary autosomal recessive 4	MCPH4	NA	14654843, 21131973	Standard	NM_014985	NM_014985	NA	Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1033G>A	15.37:g.49081138C>T	ENSP00000370337:p.Asp345Asn	NA	Q17RV1|Q6NTA0	37	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226869	0.79576	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.80304	-1.36;-1.36;-1.36	6.03	6.03	0.97812	.	0.240671	0.48286	D	0.000186	D	0.86176	0.5870	L	0.45581	1.43	0.43782	D	0.99631	D;D;D	0.69078	0.977;0.997;0.976	P;P;P	0.59357	0.787;0.856;0.724	D	0.86157	0.1591	10	0.72032	D	0.01	-14.6367	20.5568	0.99304	0.0:1.0:0.0:0.0	.	252;345;345	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	N	345;252;345;345	ENSP00000370337:D345N;ENSP00000321000:D252N;ENSP00000382271:D345N	ENSP00000321000:D252N	D	-	1	0	CEP152	46868430	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.306000	0.72810	2.861000	0.98227	0.655000	0.94253	GAC	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417365.1		-	ENST00000380950.2	Missense_Mutation	SNP	15 : 49081138 - 49081138 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	741	120
ZFYVE16	9765	broad.mit.edu	37	5	79743884	79743884	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79743884G>T	ENST00000338008.5	+	7	2944	c.2764G>T	c.(2764-2766)Gaa>Taa	p.E922*	ZFYVE16_ENST00000510158.1_Nonsense_Mutation_p.E922*|ZFYVE16_ENST00000505560.1_Nonsense_Mutation_p.E922*	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	922					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TACTACAGTGGAAAAGCCAAA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(150;1452 1854 16018 17851 37292)							NA				0													78	76	77			NA	NA	5		NA											NA				79743884		2203	4300	6503	SO:0001587	stop_gained			AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319	9765	9765		Zinc fingers, FYVE domain containing, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	20756	protein-coding gene	gene with protein product	endofin, protein phosphatase 1, regulatory subunit 69	608880			NA	11546807	Standard	NM_014733	NM_014733	NA	Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.2764G>T	5.37:g.79743884G>T	ENSP00000337159:p.Glu922*	NA	O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	37	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	G	40	8.124485	0.98665	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	.	.	.	5.43	3.58	0.41010	.	0.207974	0.34110	N	0.004242	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-12.612	6.9264	0.24418	0.14:0.1602:0.6998:0.0	.	.	.	.	X	922	.	ENSP00000337159:E922X	E	+	1	0	ZFYVE16	79779640	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	1.353000	0.34045	1.396000	0.46663	0.650000	0.86243	GAA	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226982.2		+	ENST00000338008.5	Nonsense_Mutation	SNP	5 : 79743884 - 79743884 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	244	55
SUGP2	10147	broad.mit.edu	37	19	19136619	19136619	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19136619C>T	ENST00000601879.1	-	3	835	c.538G>A	c.(538-540)Gag>Aag	p.E180K	SUGP2_ENST00000600377.1_Missense_Mutation_p.E194K|SUGP2_ENST00000452918.2_Missense_Mutation_p.E180K|SUGP2_ENST00000456085.2_Intron|SUGP2_ENST00000337018.6_Missense_Mutation_p.E180K|SUGP2_ENST00000598202.1_5'UTR			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	180					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CACTCTTTCTCAATCAGCCTG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	92	96			NA	NA	19		NA											NA				19136619		2203	4300	6503	SO:0001583	missense			AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607	10147	10147		G patch domain containing	18641	protein-coding gene	gene with protein product		607993	splicing factor, arginine/serine-rich 14	SFRS14	NA	12594045	Standard	NM_001017392	NM_014884	NA	Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.538G>A	19.37:g.19136619C>T	ENSP00000472286:p.Glu180Lys	NA	C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	37	CCDS12392.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963237	0.53507	.	.	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918	T;T;T	0.14391	2.52;2.51;2.52	4.93	4.93	0.64822	.	0.578205	0.16159	N	0.226887	T	0.10252	0.0251	N	0.19112	0.55	0.80722	D	1	P;P	0.40970	0.734;0.734	B;B	0.34824	0.19;0.19	T	0.15578	-1.0432	10	0.87932	D	0	-19.4332	15.2858	0.73828	0.0:1.0:0.0:0.0	.	180;180	A8K5G0;Q8IX01	.;SUGP2_HUMAN	K	180	ENSP00000337926:E180K;ENSP00000332373:E180K;ENSP00000389380:E180K	ENSP00000332373:E180K	E	-	1	0	SUGP2	18997619	0.989000	0.36119	0.986000	0.45419	0.890000	0.51754	2.927000	0.48900	2.295000	0.77249	0.313000	0.20887	GAG	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464627.1		-	ENST00000601879.1	Missense_Mutation	SNP	19 : 19136619 - 19136619 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	362	69
ZNF385B	151126	broad.mit.edu	37	2	180307983	180307983	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:180307983C>T	ENST00000410066.1	-	10	2013	c.1410G>A	c.(1408-1410)ccG>ccA	p.P470P	ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000336917.5_Silent_p.P368P|ZNF385B_ENST00000409692.1_Silent_p.P368P|ZNF385B_ENST00000409343.1_Silent_p.P394P	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	470						nucleus	nucleic acid binding|zinc ion binding	p.P470P(1)		breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GACGTTAGTACGGAGCAAAGA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(155;204 2491 32774 51842)							NA				1	Substitution - coding silent(1)	large_intestine(1)											33	38	36			NA	NA	2		NA											NA				180307983		2203	4299	6502	SO:0001819	synonymous_variant			AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331	151126	151126			26332	protein-coding gene	gene with protein product		612344	zinc finger protein 533	ZNF533	NA	12477932	Standard	NM_152520	NM_152520	NA	Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.1410G>A	2.37:g.180307983C>T		NA	Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	37	CCDS33339.1																																																																																			ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335972.1		-	ENST00000410066.1	Silent	SNP	2 : 180307983 - 180307983 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	76
CNOT4	4850	broad.mit.edu	37	7	135080489	135080489	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135080489G>A	ENST00000428680.2	-	9	1296	c.1017C>T	c.(1015-1017)cgC>cgT	p.R339R	CNOT4_ENST00000361528.4_Silent_p.R339R|CNOT4_ENST00000541284.1_Silent_p.R342R|CNOT4_ENST00000414802.1_Silent_p.R342R|CNOT4_ENST00000451834.1_Silent_p.R339R|CNOT4_ENST00000423368.2_Silent_p.R342R|CNOT4_ENST00000356162.4_Silent_p.R342R|CNOT4_ENST00000315544.5_Silent_p.R342R	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	342					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GGTTGGGATGGCGAAAATTGT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(51;766 1130 5502 35047 50875)							NA				0													182	182	182			NA	NA	7		NA											NA				135080489		1987	4151	6138	SO:0001819	synonymous_variant			AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802	4850	4850		RNA binding motif (RRM) containing	7880	protein-coding gene	gene with protein product		604911		NOT4	NA	10637334	Standard	NM_013316	NM_013316	NA	Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000428680.2:c.1017C>T	7.37:g.135080489G>A		NA	O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	37	CCDS47719.1																																																																																			CNOT4-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340669.1		-	ENST00000428680.2	Silent	SNP	7 : 135080489 - 135080489 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	409	78
NUP214	8021	broad.mit.edu	37	9	134090667	134090667	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134090667T>C	ENST00000359428.5	+	31	5805	c.5661T>C	c.(5659-5661)agT>agC	p.S1887S	NUP214_ENST00000411637.2_Silent_p.S1877S|NUP214_ENST00000483497.2_Silent_p.S713S|NUP214_ENST00000451030.1_Silent_p.S1888S			P35658	NU214_HUMAN	nucleoporin 214kDa	1887	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GTTTCTTCAGTGGCCTTGGAG	0.498		NA	T	DEK, SET, ABL1	AML, T-ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(4;24 48 25510 30394 32571)		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0													110	110	110			NA	NA	9		NA											NA				134090667		2203	4300	6503	SO:0001819	synonymous_variant			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883	8021	8021			8064	protein-coding gene	gene with protein product	nuclear pore complex protein Nup214, CAN protein, putative oncogene	114350	nucleoporin 214kD (CAIN)		NA	8108440, 2370860	Standard	NM_005085	NM_005085	NA	Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.5661T>C	9.37:g.134090667T>C		NA	A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	37	CCDS6940.1																																																																																			NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054694.2		+	ENST00000359428.5	Silent	SNP	9 : 134090667 - 134090667 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	539	128
DNM1L	10059	broad.mit.edu	37	12	32895632	32895632	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32895632G>T	ENST00000452533.2	+	18	2190	c.2026G>T	c.(2026-2028)Gaa>Taa	p.E676*	DNM1L_ENST00000553257.1_Nonsense_Mutation_p.E715*|DNM1L_ENST00000414834.2_Nonsense_Mutation_p.E499*|DNM1L_ENST00000549701.1_Nonsense_Mutation_p.E702*|DNM1L_ENST00000547312.1_Nonsense_Mutation_p.E691*|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000381000.4_Nonsense_Mutation_p.E704*|DNM1L_ENST00000358214.5_Nonsense_Mutation_p.E678*|DNM1L_ENST00000266481.6_Nonsense_Mutation_p.E665*	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	702	GED.|Interaction with GSK3B.				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)					TCTTCTGACAGAATCTGAGGA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	150	151			NA	NA	12		NA											NA				32895632		2203	4300	6503	SO:0001587	stop_gained			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.2026G>T	12.37:g.32895632G>T	ENSP00000415131:p.Glu676*	NA	A8K4X9|B4DSU8|O14541|O60709|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	37	CCDS8730.1	.	.	.	.	.	.	.	.	.	.	G	38	6.961801	0.97967	.	.	ENSG00000087470	ENST00000452533;ENST00000411996;ENST00000553257;ENST00000549701;ENST00000358214;ENST00000266481;ENST00000547312;ENST00000414834;ENST00000381000	.	.	.	5.52	5.52	0.82312	.	0.119189	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.6304	0.88104	0.0:0.0:1.0:0.0	.	.	.	.	X	676;757;715;702;678;665;691;499;704	.	ENSP00000266481:E665X	E	+	1	0	DNM1L	32786899	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.607000	0.98328	2.582000	0.87167	0.585000	0.79938	GAA	DNM1L-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404122.1		+	ENST00000452533.2	Nonsense_Mutation	SNP	12 : 32895632 - 32895632 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	557	50
HIVEP2	3097	broad.mit.edu	37	6	143082630	143082630	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143082630G>A	ENST00000367604.1	-	7	6230	c.5591C>T	c.(5590-5592)tCg>tTg	p.S1864L	HIVEP2_ENST00000367603.2_Missense_Mutation_p.S1864L|HIVEP2_ENST00000012134.2_Missense_Mutation_p.S1864L			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1864					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		ATCATCCACCGATGTCATTGA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(107;843 1510 13293 16805 42198)							NA				0													188	177	180			NA	NA	6		NA											NA				143082630		1893	4120	6013	SO:0001583	missense			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818	3097	3097		Zinc fingers, C2H2-type	4921	protein-coding gene	gene with protein product	c-myc intron binding protein 1	143054	human immunodeficiency virus type I enhancer-binding protein 2		NA	1733857, 2022670	Standard		NM_006734	NA	Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.5591C>T	6.37:g.143082630G>A	ENSP00000356576:p.Ser1864Leu	NA	Q02646|Q5THT5|Q9NS05	37	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708935	0.89018	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02631	4.22;4.22;4.22	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.05364	0.0142	N	0.21373	0.66	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.54077	-0.8347	10	0.72032	D	0.01	-16.1067	19.7939	0.96471	0.0:0.0:1.0:0.0	.	1864	P31629	ZEP2_HUMAN	L	1864	ENSP00000356576:S1864L;ENSP00000356575:S1864L;ENSP00000012134:S1864L	ENSP00000012134:S1864L	S	-	2	0	HIVEP2	143124323	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	6.812000	0.75226	2.668000	0.90789	0.563000	0.77884	TCG	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042495.1		-	ENST00000367604.1	Missense_Mutation	SNP	6 : 143082630 - 143082630 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1035	188
BCL2L15	440603	broad.mit.edu	37	1	114429225	114429225	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114429225A>G	ENST00000393320.3	-	1	189				BCL2L15_ENST00000488450.1_Intron|BCL2L15_ENST00000393316.3_Silent_p.G61G|BCL2L15_ENST00000471267.1_Silent_p.G61G|AP4B1-AS1_ENST00000419536.1_RNA			Q5TBC7	B2L15_HUMAN	BCL2-like 15	NA					apoptosis					breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)	9	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGAACTGGTCACCCAACATCC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	106	111			NA	NA	1		NA											NA				114429225		2203	4300	6503	SO:0001627	intron_variant				CCDS30809.1	1p13.2	2014-03-07			ENSG00000188761	ENSG00000188761	440603	440603			33624	protein-coding gene	gene with protein product			chromosome 1 open reading frame 178	C1orf178	NA	12700646, 15961081, 16690252, 17412810	Standard	NM_001010922	NM_001010922	NA	Approved	Bfk, FLJ22588	uc001edw.3	Q5TBC7	OTTHUMG00000011940	ENST00000393320.3:c.127+645T>C	1.37:g.114429225A>G		NA	A0PJY6|A8K074	37																																																																																				BCL2L15-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000351820.1		-	ENST00000393320.3	Intron	SNP	1 : 114429225 - 114429225 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	202	41
ZCCHC5	203430	broad.mit.edu	37	X	77913260	77913260	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77913260C>T	ENST00000321110.1	-	2	953	c.658G>A	c.(658-660)Gca>Aca	p.A220T		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	220							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TCTGAAGCTGCTGATGTCTCC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	34	34			NA	NA	X		NA											NA				77913260		2203	4300	6503	SO:0001583	missense			AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300	203430	203430		Zinc fingers, CCHC domain containing	22997	protein-coding gene	gene with protein product					NA	15716091, 16093683	Standard	NM_152694	NM_152694	NA	Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.658G>A	X.37:g.77913260C>T	ENSP00000316794:p.Ala220Thr	NA	B2RMZ0|Q5JQE9	37	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	C	5.120	0.207840	0.09704	.	.	ENSG00000179300	ENST00000321110	T	0.18338	2.22	3.03	1.04	0.20106	.	.	.	.	.	T	0.06508	0.0167	N	0.04508	-0.205	0.09310	N	1	B	0.20550	0.046	B	0.17979	0.02	T	0.43861	-0.9365	9	0.15066	T	0.55	.	6.2909	0.21059	0.0:0.6915:0.0:0.3085	.	220	Q8N8U3	ZCHC5_HUMAN	T	220	ENSP00000316794:A220T	ENSP00000316794:A220T	A	-	1	0	ZCCHC5	77799916	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.147000	0.16202	0.127000	0.18452	0.513000	0.50165	GCA	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057319.1		-	ENST00000321110.1	Missense_Mutation	SNP	X : 77913260 - 77913260 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	170	35
UBN2	254048	broad.mit.edu	37	7	138978654	138978654	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138978654G>T	ENST00000473989.3	+	17	3921	c.3921G>T	c.(3919-3921)caG>caT	p.Q1307H	UBN2_ENST00000288561.8_Missense_Mutation_p.Q1224H	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	NA										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AGGGTTTACAGCCAGGAGGAG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	83	82			NA	NA	7		NA											NA				138978654		2082	4225	6307	SO:0001583	missense			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741	254048	254048			21931	protein-coding gene	gene with protein product		613841			NA	19029251	Standard	NM_173569	NM_173569	NA	Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.3921G>T	7.37:g.138978654G>T	ENSP00000418648:p.Gln1307His	NA	A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	37	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275816	0.59649	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.33216	1.42;1.44	5.86	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.25680	0.0625	N	0.17082	0.46	0.44123	D	0.996905	D	0.62365	0.991	P	0.53185	0.72	T	0.02026	-1.1227	10	0.07990	T	0.79	-10.5282	12.7516	0.57312	0.1324:0.0:0.8676:0.0	.	1307	Q6ZU65	UBN2_HUMAN	H	1307;1224	ENSP00000418648:Q1307H;ENSP00000288561:Q1224H	ENSP00000288561:Q1224H	Q	+	3	2	UBN2	138629194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.501000	0.45389	0.949000	0.37715	0.650000	0.86243	CAG	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349272.3		+	ENST00000473989.3	Missense_Mutation	SNP	7 : 138978654 - 138978654 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	243	30
ZKSCAN8	7745	broad.mit.edu	37	6	28120057	28120057	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28120057G>T	ENST00000330236.6	+	5	854	c.670G>T	c.(670-672)Gac>Tac	p.D224Y	ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.D224Y	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2			zinc finger with KRAB and SCAN domains 8	NA											NA						GAAGATTGAAGACATGGCTGT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	134	134			NA	NA	6		NA											NA				28120057		2203	4300	6503	SO:0001583	missense				CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315	NA	7745		Zinc fingers, C2H2-type, -, -, -	12983	protein-coding gene	gene with protein product		602240	zinc finger protein 192	ZNF192	NA		Standard		NM_001278119	NA	Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.670G>T	6.37:g.28120057G>T	ENSP00000332750:p.Asp224Tyr	NA		37	CCDS4645.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180298	0.78677	.	.	ENSG00000198315	ENST00000330236;ENST00000457389	T;T	0.12039	2.72;2.72	5.32	5.32	0.75619	Krueppel-associated box (4);	0.000000	0.64402	D	0.000011	T	0.49541	0.1563	H	0.97659	4.05	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.67154	-0.5742	10	0.72032	D	0.01	.	18.644	0.91405	0.0:0.0:1.0:0.0	.	224	Q15776	ZN192_HUMAN	Y	224	ENSP00000332750:D224Y;ENSP00000402948:D224Y	ENSP00000332750:D224Y	D	+	1	0	ZNF192	28228036	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.218000	0.72224	2.873000	0.98535	0.563000	0.77884	GAC	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040178.2		+	ENST00000330236.6	Missense_Mutation	SNP	6 : 28120057 - 28120057 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	544	56
ZC3H4	23211	broad.mit.edu	37	19	47584827	47584827	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47584827G>A	ENST00000253048.5	-	11	1420	c.1383C>T	c.(1381-1383)gaC>gaT	p.D461D	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	461							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		ACATGCAGTCGTCACCATTGA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	139	139			NA	NA	19		NA											NA				47584827		2054	4194	6248	SO:0001819	synonymous_variant			AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749	23211	23211		Zinc fingers, CCCH-type domain containing	17808	protein-coding gene	gene with protein product			chromosome 19 open reading frame 7	C19orf7	NA		Standard		NM_015168	NA	Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.1383C>T	19.37:g.47584827G>A		NA	Q9Y420	37	CCDS42582.1																																																																																			ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466667.1		-	ENST00000253048.5	Silent	SNP	19 : 47584827 - 47584827 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	482	76
NACA	4666	broad.mit.edu	37	12	57115165	57115165	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57115165G>T	ENST00000550952.1	-	3	187	c.149C>A	c.(148-150)tCt>tAt	p.S50Y	NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000454682.1_Missense_Mutation_p.S50Y|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron			Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGGCAGGAGAGCAAGGAGG	0.562		NA	T	BCL6	NHL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0													32	31	31			NA	NA	12		NA											NA				57115165		1568	3582	5150	SO:0001583	missense			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531	4666	4666			7629	protein-coding gene	gene with protein product		601234	nascent-polypeptide-associated complex alpha polypeptide		NA	8047162	Standard	NM_005594	NM_001113202	NA	Approved	NACA1	uc001sma.2	E9PAV3		ENST00000550952.1:c.149C>A	12.37:g.57115165G>T	ENSP00000448035:p.Ser50Tyr	NA	Q3KQV4|Q53A18|Q53G46	37	CCDS44925.2	.	.	.	.	.	.	.	.	.	.	G	7.547	0.661910	0.14645	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.33216	1.42;1.42	3.46	3.46	0.39613	.	.	.	.	.	T	0.33614	0.0869	N	0.08118	0	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.993;0.996	T	0.18147	-1.0346	9	0.87932	D	0	.	10.6916	0.45875	0.0:0.0:1.0:0.0	.	50;50	E9PAV3;F8VU71	.;.	Y	50	ENSP00000403817:S50Y;ENSP00000448035:S50Y	ENSP00000403817:S50Y	S	-	2	0	NACA	55401432	0.438000	0.25602	0.048000	0.18961	0.100000	0.18952	3.563000	0.53784	1.959000	0.56917	0.456000	0.33151	TCT	NACA-004	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407275.1		-	ENST00000550952.1	Missense_Mutation	SNP	12 : 57115165 - 57115165 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	189	14
RSPO1	284654	broad.mit.edu	37	1	38082217	38082217	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38082217G>A	ENST00000401069.1	-	4	937	c.225C>T	c.(223-225)tgC>tgT	p.C75C	RSPO1_ENST00000401068.1_Silent_p.C75C|RSPO1_ENST00000401070.1_Silent_p.C75C|RSPO1_ENST00000373059.1_Silent_p.C48C|RSPO1_ENST00000356545.2_Silent_p.C75C|RSPO1_ENST00000401071.2_Silent_p.C75C	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	75					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGGACGGCAAGCAGACGCCCA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(122;680 2230 27822 42821)							NA				0													67	71	70			NA	NA	1		NA											NA				38082217		2055	4190	6245	SO:0001819	synonymous_variant			AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218	284654	284654		Endogenous ligands	21679	protein-coding gene	gene with protein product		609595	R-spondin homolog (Xenopus laevis)		NA		Standard	NM_173640	NM_001038633	NA	Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.225C>T	1.37:g.38082217G>A		NA	A2A420|Q14C72|Q5T0F2|Q8N7L5	37	CCDS41304.1																																																																																			RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000012477.2		-	ENST00000401069.1	Silent	SNP	1 : 38082217 - 38082217 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	470	50
NRXN3	9369	broad.mit.edu	37	14	79433613	79433613	+	Missense_Mutation	SNP	G	G	A	rs140528152		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:79433613G>A	ENST00000554719.1	+	10	2212	c.1721G>A	c.(1720-1722)cGc>cAc	p.R574H	NRXN3_ENST00000335750.5_Missense_Mutation_p.R574H	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	166					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AACAGTGACCGCCCCCTGAAT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	0,4406		0,0,2203	102	87	92		1721	6	1	14	dbSNP_134	92	1,8599	1.2+/-3.3	0,1,4299	no	missense	NRXN3	NM_004796.4	29	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	possibly-damaging	574/1062	79433613	1,13005	2203	4300	6503	SO:0001583	missense			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645	9369	9369			8010	protein-coding gene	gene with protein product		600567	chromosome 14 open reading frame 60	C14orf60	NA	11944992, 12379233	Standard	NM_001105250	NM_004796	NA	Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1721G>A	14.37:g.79433613G>A	ENSP00000451648:p.Arg574His	NA	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	37	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288622	0.80914	0.0	1.16E-4	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.78126	-1.15;-1.15	6.04	6.04	0.98038	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.233245	0.41938	D	0.000781	D	0.85639	0.5743	.	.	.	0.50813	D	0.999897	D;B	0.65815	0.995;0.137	P;B	0.55871	0.786;0.027	D	0.83950	0.0316	8	.	.	.	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	947;574	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	H	947;936;574;574	ENSP00000451648:R574H;ENSP00000338349:R574H	.	R	+	2	0	NRXN3	78503366	0.998000	0.40836	0.992000	0.48379	0.685000	0.39939	3.259000	0.51515	2.873000	0.98535	0.561000	0.74099	CGC	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413787.1		+	ENST00000554719.1	Missense_Mutation	SNP	14 : 79433613 - 79433613 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	375	72
USH2A	7399	broad.mit.edu	37	1	215960182	215960182	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215960182G>A	ENST00000307340.3	-	52	10603	c.10217C>T	c.(10216-10218)tCt>tTt	p.S3406F	USH2A_ENST00000366943.2_Missense_Mutation_p.S3406F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3406	Fibronectin type-III 19.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGCTTCCATAGATGCTGGGCA	0.468		NA								HNSCC(13;0.011)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	65	66			NA	NA	1		NA											NA				215960182		2203	4300	6503	SO:0001583	missense			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781	7399	7399		Fibronectin type III domain containing	12601	protein-coding gene	gene with protein product	usherin	608400		USH2	NA	9624053, 10729113	Standard	NM_007123	NM_007123	NA	Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10217C>T	1.37:g.215960182G>A	ENSP00000305941:p.Ser3406Phe	NA	Q5VVM9|Q6S362|Q9NS27	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664031	0.47572	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.17854	2.26;2.25	4.88	3.97	0.46021	Fibronectin, type III (3);	0.508801	0.16482	N	0.212481	T	0.28632	0.0709	M	0.66939	2.045	0.09310	N	1	D	0.54397	0.966	P	0.50440	0.641	T	0.09079	-1.0691	10	0.87932	D	0	.	11.7406	0.51790	0.0823:0.0:0.9177:0.0	.	3406	O75445	USH2A_HUMAN	F	3406	ENSP00000305941:S3406F;ENSP00000355910:S3406F	ENSP00000305941:S3406F	S	-	2	0	USH2A	214026805	0.296000	0.24398	0.001000	0.08648	0.490000	0.33462	3.445000	0.52921	1.037000	0.40024	-0.126000	0.14955	TCT	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128138.1		-	ENST00000307340.3	Missense_Mutation	SNP	1 : 215960182 - 215960182 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	52
ZNF423	23090	broad.mit.edu	37	16	49669765	49669765	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:49669765C>T	ENST00000561648.1	-	4	3351	c.3298G>A	c.(3298-3300)Gcc>Acc	p.A1100T	ZNF423_ENST00000262383.2_Missense_Mutation_p.A1100T|ZNF423_ENST00000535559.1_Missense_Mutation_p.A983T|ZNF423_ENST00000562520.1_Missense_Mutation_p.A1040T|ZNF423_ENST00000567169.1_Missense_Mutation_p.A983T|ZNF423_ENST00000562871.1_Missense_Mutation_p.A1040T|ZNF423_ENST00000563137.2_Missense_Mutation_p.A1040T	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1100					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGTCCGTTGGCGCTGCGGGCC	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	18	17			NA	NA	16		NA											NA				49669765		2196	4293	6489	SO:0001583	missense			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935	23090	23090		Zinc fingers, C2H2-type	16762	protein-coding gene	gene with protein product	OLF-1/EBF associated zinc finger gene,  Smad- and Olf-interacting zinc finger protein, early B-cell factor associated zinc finger protein	604557			NA	9872452, 10660046	Standard	NM_015069	NM_001271620	NA	Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.3298G>A	16.37:g.49669765C>T	ENSP00000455426:p.Ala1100Thr	NA	O94860|Q76N04|Q9NZ13	37	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	6.221	0.408956	0.11812	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.07800	3.16;3.18	5.16	1.7	0.24286	.	0.098188	0.64402	D	0.000002	T	0.02083	0.0065	N	0.01576	-0.805	0.31995	N	0.604178	B	0.02656	0.0	B	0.01281	0.0	T	0.32188	-0.9916	9	.	.	.	-16.2003	2.3233	0.04216	0.3978:0.3609:0.0:0.2413	.	1100	Q2M1K9	ZN423_HUMAN	T	1100;983	ENSP00000262383:A1100T;ENSP00000442321:A983T	.	A	-	1	0	ZNF423	48227266	0.997000	0.39634	0.832000	0.32986	0.886000	0.51366	1.701000	0.37825	0.557000	0.29117	0.561000	0.74099	GCC	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000423258.1		-	ENST00000561648.1	Missense_Mutation	SNP	16 : 49669765 - 49669765 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	242	44
CECR2	27443	broad.mit.edu	37	22	18022171	18022171	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18022171C>A	ENST00000400585.2	+	16	2288	c.1850C>A	c.(1849-1851)gCt>gAt	p.A617D	CECR2_ENST00000262608.8_Missense_Mutation_p.A759D|CECR2_ENST00000400573.5_Missense_Mutation_p.A758D			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	800					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AACCATGGTGCTACGAACCAA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	46	44			NA	NA	22		NA											NA				18022171		1965	4144	6109	SO:0001583	missense			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954	27443	27443			1840	protein-coding gene	gene with protein product		607576			NA	11381032	Standard	NM_031413	XM_006724077	NA	Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1850C>A	22.37:g.18022171C>A	ENSP00000383428:p.Ala617Asp	NA	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	37		.	.	.	.	.	.	.	.	.	.	C	16.00	2.997072	0.54147	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.27720	1.77;1.76;1.65	5.29	4.25	0.50352	.	0.627641	0.14414	N	0.321059	T	0.33294	0.0858	L	0.56769	1.78	0.33771	D	0.622995	P;P;P	0.42409	0.779;0.664;0.664	B;B;B	0.39299	0.296;0.296;0.296	T	0.52442	-0.8575	10	0.52906	T	0.07	-8.8794	14.2317	0.65898	0.0:0.851:0.149:0.0	.	800;617;758	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	D	617;758;759	ENSP00000383428:A617D;ENSP00000383417:A758D;ENSP00000262608:A759D	ENSP00000262608:A759D	A	+	2	0	CECR2	16402171	0.217000	0.23597	0.992000	0.48379	0.859000	0.49053	0.696000	0.25541	1.428000	0.47296	0.561000	0.74099	GCT	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000316226.2		+	ENST00000400585.2	Missense_Mutation	SNP	22 : 18022171 - 18022171 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	262	34
VAPB	9217	broad.mit.edu	37	20	57016098	57016098	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57016098G>A	ENST00000475243.1	+	5	870	c.532G>A	c.(532-534)Ggt>Agt	p.G178S	VAPB_ENST00000395802.3_Intron|VAPB_ENST00000265619.2_3'UTR	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C	178					cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity			kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			GAGGCTGCAAGGTGAAGTTCA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	88	90			NA	NA	20		NA											NA				57016098		2203	4300	6503	SO:0001583	missense			AF086628	CCDS33498.1, CCDS56198.1	20q13	2014-09-17			ENSG00000124164	ENSG00000124164	9217	9217			12649	protein-coding gene	gene with protein product		605704			NA	9920726	Standard		NM_004738	NA	Approved	VAP-B, VAP-C, ALS8	uc002xza.3	O95292	OTTHUMG00000032840	ENST00000475243.1:c.532G>A	20.37:g.57016098G>A	ENSP00000417175:p.Gly178Ser	NA	A2A2F2|O95293|Q9P0H0	37	CCDS33498.1	.	.	.	.	.	.	.	.	.	.	G	3.469	-0.108439	0.06924	.	.	ENSG00000124164	ENST00000475243	T	0.30981	1.51	5.49	2.51	0.30379	.	0.222846	0.47093	N	0.000241	T	0.11410	0.0278	N	0.08118	0	0.09310	N	0.999994	B;B	0.10296	0.0;0.003	B;B	0.09377	0.004;0.001	T	0.31308	-0.9948	10	0.09338	T	0.73	-9.6621	4.6963	0.12806	0.2107:0.0:0.5376:0.2517	.	55;178	B4DNS4;O95292	.;VAPB_HUMAN	S	178	ENSP00000417175:G178S	ENSP00000417175:G178S	G	+	1	0	VAPB	56449504	0.967000	0.33354	0.021000	0.16686	0.984000	0.73092	0.859000	0.27858	0.297000	0.22615	-0.157000	0.13467	GGT	VAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079875.2		+	ENST00000475243.1	Missense_Mutation	SNP	20 : 57016098 - 57016098 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	250	53
MIS18A	54069	broad.mit.edu	37	21	33642777	33642777	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:33642777C>T	ENST00000290130.3	-	3	519	c.465G>A	c.(463-465)acG>acA	p.T155T	MIS18A_ENST00000486363.1_5'UTR	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN	MIS18 kinetochore protein A	155					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						GATTCTTGGGCGTGCATCTGT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	80	84			NA	NA	21		NA											NA				33642777		2203	4300	6503	SO:0001819	synonymous_variant			AF231921	CCDS13611.1	21q22.11	2013-10-21	2013-10-21	2011-02-23	ENSG00000159055	ENSG00000159055	54069	54069			1286	protein-coding gene	gene with protein product			chromosome 21 open reading frame 46, chromosome 21 open reading frame 45, MIS18 kinetochore protein homolog A (S. pombe)	C21orf46, C21orf45	NA	17199038	Standard	NM_018944	NM_018944	NA	Approved	B28, FASP1, hMis18alpha	uc002ypi.3	Q9NYP9	OTTHUMG00000085308	ENST00000290130.3:c.465G>A	21.37:g.33642777C>T		NA	B2R562|Q542Z0	37	CCDS13611.1																																																																																			MIS18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000193090.1		-	ENST00000290130.3	Silent	SNP	21 : 33642777 - 33642777 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	183	26
FBXL4	26235	broad.mit.edu	37	6	99347219	99347219	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99347219T>C	ENST00000369244.2	-	7	1670	c.1242A>G	c.(1240-1242)ctA>ctG	p.L414L	FBXL4_ENST00000229971.1_Silent_p.L414L	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	414					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		CTTGAGGTGGTAGCTTATCAC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	151	156			NA	NA	6		NA											NA				99347219		2203	4300	6503	SO:0001819	synonymous_variant			AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234	26235	26235		F-boxes / Leucine-rich repeats	13601	protein-coding gene	gene with protein product		605654			NA	10531035	Standard		NM_012160	NA	Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.1242A>G	6.37:g.99347219T>C		NA	E1P530|O95919|Q5BJH0|Q9UJU0	37	CCDS5041.1																																																																																			FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041587.2		-	ENST00000369244.2	Silent	SNP	6 : 99347219 - 99347219 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	737	130
ARAF	369	broad.mit.edu	37	X	47429401	47429401	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47429401G>A	ENST00000377045.4	+	14	1723	c.1529G>A	c.(1528-1530)aGc>aAc	p.S510N	ARAF_ENST00000470206.1_3'UTR	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	510	Protein kinase.				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	CTGCCTTACAGCCACATTGGC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	38	47			NA	NA	X		NA											NA				47429401		2203	4300	6503	SO:0001583	missense			X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061	369	369			646	protein-coding gene	gene with protein product		311010	v-raf murine sarcoma 3611 viral oncogene homolog 1	ARAF1	NA		Standard		NM_001654	NA	Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.1529G>A	X.37:g.47429401G>A	ENSP00000366244:p.Ser510Asn	NA	P07557|Q5H9B3	37	CCDS35232.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175564	0.78564	.	.	ENSG00000078061	ENST00000377045	D	0.82803	-1.65	4.92	4.92	0.64577	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.170092	0.53938	D	0.000055	T	0.81498	0.4835	N	0.24115	0.695	0.80722	D	1	P	0.52463	0.953	P	0.57283	0.817	T	0.83154	-0.0102	10	0.66056	D	0.02	.	10.7924	0.46440	0.0:0.1877:0.8123:0.0	.	510	P10398	ARAF_HUMAN	N	510	ENSP00000366244:S510N	ENSP00000366244:S510N	S	+	2	0	ARAF	47314345	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.950000	0.49081	2.167000	0.68274	0.513000	0.50165	AGC	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056418.1		+	ENST00000377045.4	Missense_Mutation	SNP	X : 47429401 - 47429401 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	58	18
C10orf54	64115	broad.mit.edu	37	10	73521358	73521358	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73521358T>C	ENST00000394957.3	-	2	566	c.508A>G	c.(508-510)Aca>Gca	p.T170A	C10orf54_ENST00000481568.2_5'UTR|CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	170						integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CCCTCACCTGTCTGCACCTGC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	27	29			NA	NA	10		NA											NA				73521358		2202	4300	6502	SO:0001583	missense			AF193048	CCDS31218.1	10q22.1	2013-11-28			ENSG00000107738	ENSG00000107738	64115	64115		Immunoglobulin superfamily / V-set domain containing	30085	protein-coding gene	gene with protein product	stress induced secreted protein 1	615608			NA	12975309	Standard	NM_022153	NM_022153	NA	Approved	SISP1, GI24, B7-H5, B7H5	uc001jsd.3	Q9H7M9	OTTHUMG00000018426	ENST00000394957.3:c.508A>G	10.37:g.73521358T>C	ENSP00000378409:p.Thr170Ala	NA	A8MVH5|Q6UXF3|Q8WUG3|Q8WYZ8	37	CCDS31218.1	.	.	.	.	.	.	.	.	.	.	T	10.14	1.268732	0.23136	.	.	ENSG00000107738	ENST00000394957;ENST00000263569	T	0.42131	0.98	5.75	1.99	0.26369	Immunoglobulin-like fold (1);	0.612772	0.18840	N	0.129705	T	0.28928	0.0718	L	0.40543	1.245	0.25380	N	0.988629	B;B	0.11235	0.004;0.0	B;B	0.09377	0.004;0.001	T	0.18999	-1.0319	10	0.24483	T	0.36	.	6.8447	0.23982	0.0:0.1273:0.234:0.6387	.	166;170	Q2TA85;Q9H7M9	.;GI24_HUMAN	A	170;166	ENSP00000378409:T170A	ENSP00000263569:T166A	T	-	1	0	C10orf54	73191364	0.976000	0.34144	0.549000	0.28204	0.978000	0.69477	1.393000	0.34497	0.085000	0.17107	-0.250000	0.11733	ACA	C10orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048548.1		-	ENST00000394957.3	Missense_Mutation	SNP	10 : 73521358 - 73521358 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	89	17
KIAA1328	57536	broad.mit.edu	37	18	34802090	34802090	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34802090G>A	ENST00000591619.1	+	10	2408	c.1622G>A	c.(1621-1623)cGa>cAa	p.R541Q	KIAA1328_ENST00000280020.5_Missense_Mutation_p.R545Q|KIAA1328_ENST00000543923.1_Intron|KIAA1328_ENST00000586135.1_3'UTR			Q86T90	K1328_HUMAN	KIAA1328	545										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		GGTACTTTCCGACTCAGTCCT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	42	43			NA	NA	18		NA											NA				34802090		1864	4105	5969	SO:0001583	missense			AB037749	CCDS45855.1	18q12.2	2011-12-12			ENSG00000150477	ENSG00000150477	57536	57536			29248	protein-coding gene	gene with protein product					NA	10718198	Standard	NM_020776	XM_005258317	NA	Approved		uc002kzz.3	Q86T90		ENST00000591619.1:c.1622G>A	18.37:g.34802090G>A	ENSP00000465550:p.Arg541Gln	NA	Q05DL0|Q49AG6|Q9P2L8	37		.	.	.	.	.	.	.	.	.	.	G	4.084	0.013449	0.07959	.	.	ENSG00000150477	ENST00000280020;ENST00000383055	T	0.47869	0.83	5.93	-3.18	0.05186	.	0.790748	0.11311	N	0.577100	T	0.31009	0.0783	L	0.50333	1.59	0.09310	N	1	B;B	0.27971	0.002;0.196	B;B	0.15052	0.002;0.012	T	0.20505	-1.0273	10	0.18276	T	0.48	.	5.9963	0.19495	0.484:0.0:0.3084:0.2077	.	545;545	A8K8C3;Q86T90	.;K1328_HUMAN	Q	545	ENSP00000280020:R545Q	ENSP00000280020:R545Q	R	+	2	0	KIAA1328	33056088	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.898000	0.04105	-0.552000	0.06167	-0.914000	0.02751	CGA	KIAA1328-005	KNOWN	NMD_exception|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000440459.1		+	ENST00000591619.1	Missense_Mutation	SNP	18 : 34802090 - 34802090 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	115	17
C3	718	broad.mit.edu	37	19	6684416	6684416	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6684416G>T	ENST00000245907.6	-	33	4247	c.4155C>A	c.(4153-4155)atC>atA	p.I1385I		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1385					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AGATCTCAAGGATCATAGTGT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	140	140			NA	NA	19		NA											NA				6684416		2203	4300	6503	SO:0001819	synonymous_variant			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	718	718	3.4.21.43	Complement system, Endogenous ligands	1318	protein-coding gene	gene with protein product	C3a anaphylatoxin, complement component C3a, complement component C3b, prepro-C3	120700			NA		Standard	NM_000064	NM_000064	NA	Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4155C>A	19.37:g.6684416G>T		NA	A7E236	37	CCDS32883.1																																																																																			C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317636.2		-	ENST00000245907.6	Silent	SNP	19 : 6684416 - 6684416 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	724	122
OR5M9	390162	broad.mit.edu	37	11	56230077	56230077	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56230077C>T	ENST00000279791.1	-	1	800	c.801G>A	c.(799-801)gaG>gaA	p.E267E		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TTTTGCCCTGCTCTACGGATT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	75	78			NA	NA	11		NA											NA				56230077		2201	4296	6497	SO:0001819	synonymous_variant			AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269	390162	390162		GPCR / Class A : Olfactory receptors	15294	protein-coding gene	gene with protein product					NA		Standard	NM_001004743	NM_001004743	NA	Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.801G>A	11.37:g.56230077C>T		NA	Q6IEW5|Q96RB9	37	CCDS31531.1																																																																																			OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391638.1		-	ENST00000279791.1	Silent	SNP	11 : 56230077 - 56230077 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	372	65
ACVR1B	91	broad.mit.edu	37	12	52369215	52369215	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52369215C>A	ENST00000542485.1	+	2	287	c.102C>A	c.(100-102)agC>agA	p.S34R	ACVR1B_ENST00000426655.2_Missense_Mutation_p.S86R|ACVR1B_ENST00000541224.1_Missense_Mutation_p.S86R|ACVR1B_ENST00000415850.2_Missense_Mutation_p.S86R|ACVR1B_ENST00000257963.4_Missense_Mutation_p.S86R	NM_020327.3	NP_064732.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	86					G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	ACTGCCTGAGCTCGGAGGACC	0.577		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	12		NA											NA				52369215		2203	4300	6503	SO:0001583	missense				CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503	91	91			172	protein-coding gene	gene with protein product		601300		ACVRLK4	NA	8397373	Standard	NM_020328	NM_020327	NA	Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000542485.1:c.102C>A	12.37:g.52369215C>A	ENSP00000442885:p.Ser34Arg	NA	Q15479|Q15480|Q15481|Q15482	37	CCDS44893.2	.	.	.	.	.	.	.	.	.	.	C	16.84	3.233134	0.58777	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000536420;ENST00000415850;ENST00000542485	T;T;T;D;T;T	0.90732	0.39;0.39;0.39;-2.72;0.39;0.39	4.88	3.97	0.46021	TGF-beta receptor/activin receptor, type I/II (1);	0.000000	0.85682	D	0.000000	D	0.92753	0.7696	M	0.68317	2.08	0.58432	D	0.999998	B;B;D;D	0.55800	0.033;0.022;0.973;0.957	B;B;P;P	0.61800	0.048;0.076;0.894;0.865	D	0.91643	0.5328	10	0.42905	T	0.14	.	10.0775	0.42368	0.0:0.7754:0.0:0.2246	.	86;86;86;86	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	R	86;86;86;34;86;34	ENSP00000257963:S86R;ENSP00000442656:S86R;ENSP00000390477:S86R;ENSP00000443218:S34R;ENSP00000397550:S86R;ENSP00000442885:S34R	ENSP00000257963:S86R	S	+	3	2	ACVR1B	50655482	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	0.817000	0.27281	1.341000	0.45600	0.650000	0.86243	AGC	ACVR1B-001	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397005.1		+	ENST00000542485.1	Missense_Mutation	SNP	12 : 52369215 - 52369215 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	293	52
CCDC6	8030	broad.mit.edu	37	10	61554264	61554264	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61554264G>A	ENST00000263102.6	-	8	1428	c.1197C>T	c.(1195-1197)caC>caT	p.H399H		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	399						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		TGTGCTGCACGTGAAGACCCG	0.478		NA	T	RET	NSCLC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		10	10q21	8030	coiled-coil domain containing 6		E	0													146	123	131			NA	NA	10		NA											NA				61554264		2203	4300	6503	SO:0001819	synonymous_variant			S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091	8030	8030			18782	protein-coding gene	gene with protein product	DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1	601985	DNA segment on chromosome 10 (unique) 170	TST1, D10S170	NA	8058316, 6745938	Standard	NM_005436	NM_005436	NA	Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.1197C>T	10.37:g.61554264G>A		NA	Q15250|Q6GSG7	37	CCDS7257.1																																																																																			CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048176.2		-	ENST00000263102.6	Silent	SNP	10 : 61554264 - 61554264 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	276	55
VPS13D	55187	broad.mit.edu	37	1	12371629	12371629	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12371629G>A	ENST00000358136.3	+	28	6899	c.6769G>A	c.(6769-6771)Gaa>Aaa	p.E2257K	VPS13D_ENST00000356315.4_Missense_Mutation_p.E2257K	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2257					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAACCTGGGAGAACCCATAGA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	135	134			NA	NA	1		NA											NA				12371629		2203	4300	6503	SO:0001583	missense			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707	55187	55187			23595	protein-coding gene	gene with protein product		608877	vacuolar protein sorting 13D (yeast)		NA		Standard	NM_015378	NM_015378	NA	Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.6769G>A	1.37:g.12371629G>A	ENSP00000350854:p.Glu2257Lys	NA	Q58F10|Q6MZK9|Q6ZV12|Q709C4|Q709C5|Q86UB4|Q9NSJ3|Q9UIM0	37	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	36	5.672011	0.96754	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.47177	0.85;0.85	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.70815	0.3267	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.992	T	0.72852	-0.4167	10	0.72032	D	0.01	.	19.7435	0.96241	0.0:0.0:1.0:0.0	.	2257;2257	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	K	2257	ENSP00000348666:E2257K;ENSP00000350854:E2257K	ENSP00000348666:E2257K	E	+	1	0	VPS13D	12294216	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.659000	0.90383	0.563000	0.77884	GAA	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000036897.2		+	ENST00000358136.3	Missense_Mutation	SNP	1 : 12371629 - 12371629 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	831	75
PSME4	23198	broad.mit.edu	37	2	54117259	54117259	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54117259A>G	ENST00000404125.1	-	37	4333	c.4278T>C	c.(4276-4278)gcT>gcC	p.A1426A	PSME4_ENST00000421748.2_Silent_p.A570A	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1426					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTGCTATACAAGCTCCCCAGT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	145	144			NA	NA	2		NA											NA				54117259		2203	4300	6503	SO:0001819	synonymous_variant			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878	23198	23198		Proteasome (prosome, macropain) subunits	20635	protein-coding gene	gene with protein product		607705			NA	7584044, 12093752	Standard	XM_040158	NM_014614	NA	Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.4278T>C	2.37:g.54117259A>G		NA	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	37	CCDS33197.2																																																																																			PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324163.1		-	ENST00000404125.1	Silent	SNP	2 : 54117259 - 54117259 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	730	172
CLDND1	56650	broad.mit.edu	37	3	98235513	98235513	+	Missense_Mutation	SNP	C	C	T	rs147410947	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98235513C>T	ENST00000507874.1	-	5	699				CLDND1_ENST00000341181.6_Missense_Mutation_p.R251H|CLDND1_ENST00000394185.2_Missense_Mutation_p.R251H|CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000513287.1_Missense_Mutation_p.R251H|CLDND1_ENST00000394180.2_Missense_Mutation_p.R251H|CLDND1_ENST00000437922.1_Missense_Mutation_p.R274H|CLDND1_ENST00000503004.1_Missense_Mutation_p.R251H|CLDND1_ENST00000394181.2_Missense_Mutation_p.R251H|CLDND1_ENST00000510545.1_Missense_Mutation_p.R251H|CLDND1_ENST00000511081.1_Missense_Mutation_p.R156H			Q9NY35	CLDN1_HUMAN	claudin domain containing 1	NA						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						TCATGCCACACGATATGCCTT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	85	74	78		752,821,752,752,467,752	5.2	0.8	3	dbSNP_134	78	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense,missense,missense,missense,missense	CLDND1	NM_001040181.1,NM_001040182.1,NM_001040183.1,NM_001040199.1,NM_001040200.1,NM_019895.2	29,29,29,29,29,29	0,6,6497	TT,TC,CC	NA	0.0698,0.0,0.0461	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	251/254,274/277,251/254,251/254,156/159,251/254	98235513	6,13000	2203	4300	6503	SO:0001627	intron_variant			AF116664	CCDS2930.1, CCDS43116.1	3q12.1	2005-12-23	2005-12-23	2005-12-23		ENSG00000080822	56650	56650			1322	protein-coding gene	gene with protein product			chromosome 3 open reading frame 4	C3orf4	NA		Standard	NM_019895	NM_001040181	NA	Approved		uc003dst.3	Q9NY35		ENST00000507874.1:c.541+382G>A	3.37:g.98235513C>T		NA	B3KQR1|D3DN36|Q502Y8|Q6UVX2|Q9BUZ9|Q9NZZ5|Q9Y4S9	37		.	.	.	.	.	.	.	.	.	.	C	11.32	1.604808	0.28623	0.0	6.98E-4	ENSG00000080822	ENST00000341181;ENST00000437922;ENST00000394180;ENST00000503004;ENST00000394185;ENST00000394181;ENST00000510545;ENST00000511081;ENST00000513287	T;T;T;T;T;T;T;T;T	0.38077	1.52;1.46;1.52;1.52;1.52;1.52;1.52;1.16;1.52	6.03	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.32133	0.0819	L	0.34521	1.04	0.58432	D	0.999997	D;D	0.58268	0.982;0.982	P;P	0.44921	0.459;0.464	T	0.08597	-1.0714	10	0.52906	T	0.07	-14.3194	13.1986	0.59754	0.0:0.9234:0.0:0.0766	.	156;251	F2Z2D9;Q9NY35	.;CLDN1_HUMAN	H	251;274;251;251;251;251;251;156;251	ENSP00000340247:R251H;ENSP00000388457:R274H;ENSP00000377734:R251H;ENSP00000421226:R251H;ENSP00000377739:R251H;ENSP00000377735:R251H;ENSP00000423590:R251H;ENSP00000424669:R156H;ENSP00000426869:R251H	ENSP00000340247:R251H	R	-	2	0	CLDND1	99718203	1.000000	0.71417	0.760000	0.31359	0.019000	0.09904	5.644000	0.67902	1.561000	0.49584	0.655000	0.94253	CGT	CLDND1-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000359073.2		-	ENST00000507874.1	Intron	SNP	3 : 98235513 - 98235513 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	191	39
CELF4	56853	broad.mit.edu	37	18	34853000	34853000	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34853000C>T	ENST00000591287.1	-	7	1031	c.925G>A	c.(925-927)Gca>Aca	p.A309T	CELF4_ENST00000601019.1_Missense_Mutation_p.A308T|CELF4_ENST00000334919.5_Missense_Mutation_p.A300T|CELF4_ENST00000603232.1_Missense_Mutation_p.A309T|CELF4_ENST00000412753.1_Missense_Mutation_p.A309T|CELF4_ENST00000361795.5_Missense_Mutation_p.A308T|CELF4_ENST00000588597.1_Missense_Mutation_p.A299T|CELF4_ENST00000420428.2_Missense_Mutation_p.A310T|CELF4_ENST00000591282.1_Missense_Mutation_p.A310T			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	310	Ala-rich.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GTCATAGGTGCGGCCGCCAGG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	30	29			NA	NA	18		NA											NA				34853000		2203	4298	6501	SO:0001583	missense			AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19			56853	56853		RNA binding motif (RRM) containing	14015	protein-coding gene	gene with protein product		612679	Bruno (Drosophila) -like 4, RNA binding protein, bruno-like 4, RNA binding protein (Drosophila)	BRUNOL4	NA	10893231	Standard	NM_020180	NM_020180	NA	Approved		uc002lae.2	Q9BZC1		ENST00000591287.1:c.925G>A	18.37:g.34853000C>T	ENSP00000464917:p.Ala309Thr	NA	Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.55|10.55	1.382003|1.382003	0.24944|0.24944	.|.	.|.	ENSG00000101489|ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919|ENST00000361683	T;T;T|.	0.75477|.	-0.86;-0.88;-0.94|.	5.22|5.22	4.34|4.34	0.51931|0.51931	Nucleotide-binding, alpha-beta plait (1);|.	0.150427|.	0.64402|.	N|.	0.000014|.	T|T	0.51770|0.51770	0.1694|0.1694	N|N	0.25992|0.25992	0.78|0.78	0.48452|0.48452	D|D	0.99965|0.99965	B;B;B;B;B;B|.	0.27679|.	0.025;0.014;0.185;0.172;0.025;0.007|.	B;B;B;B;B;B|.	0.23275|.	0.022;0.008;0.021;0.045;0.014;0.004|.	T|T	0.53129|0.53129	-0.8482|-0.8482	10|6	0.10902|0.48119	T|T	0.67|0.1	-2.8965|-2.8965	10.9845|10.9845	0.47514|0.47514	0.0:0.8504:0.0:0.1496|0.0:0.8504:0.0:0.1496	.|.	308;299;35;300;309;310|.	Q9BZC1-3;B4DHA8;A0PK06;Q9BZC1-5;Q9BZC1-2;Q9BZC1|.	.;.;.;.;.;CELF4_HUMAN|.	T|H	310;309;308;300|192	ENSP00000406823:A309T;ENSP00000410584:A308T;ENSP00000335631:A300T|.	ENSP00000335631:A300T|ENSP00000355189:R192H	A|R	-|-	1|2	0|0	CELF4|CELF4	33106998|33106998	0.991000|0.991000	0.36638|0.36638	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.949000|2.949000	0.49074|0.49074	1.427000|1.427000	0.47276|0.47276	0.655000|0.655000	0.94253|0.94253	GCA|CGC	CELF4-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000440888.1		-	ENST00000591287.1	Missense_Mutation	SNP	18 : 34853000 - 34853000 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	350	61
SEC16A	9919	broad.mit.edu	37	9	139368891	139368891	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139368891C>A	ENST00000371706.3	-	1	2676	c.2643G>T	c.(2641-2643)caG>caT	p.Q881H	SEC16A_ENST00000290037.6_Missense_Mutation_p.Q881H|SEC16A_ENST00000313050.7_Missense_Mutation_p.Q1059H|SEC16A_ENST00000431893.2_Missense_Mutation_p.Q881H			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	881					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GCACCAGCTCCTGCTGGGCTC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	31	30			NA	NA	9		NA											NA				139368891		1916	4131	6047	SO:0001583	missense			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396	9919	9919			29006	protein-coding gene	gene with protein product		612854	KIAA0310	KIAA0310	NA	9205841	Standard	XM_088459	NM_014866	NA	Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.2643G>T	9.37:g.139368891C>A	ENSP00000360771:p.Gln881His	NA	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	37		.	.	.	.	.	.	.	.	.	.	C	6.060	0.379383	0.11466	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	5.54	0.515	0.17013	.	0.696041	0.14138	N	0.338891	T	0.22085	0.0532	M	0.62723	1.935	0.40474	D	0.98037	B;B;B;B	0.16802	0.011;0.019;0.019;0.011	B;B;B;B	0.18561	0.01;0.022;0.022;0.005	T	0.05632	-1.0873	10	0.27082	T	0.32	-0.2317	5.8162	0.18494	0.0:0.4446:0.2851:0.2704	.	1059;881;881;449	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	H	1059;881;881;881;449	ENSP00000325827:Q1059H;ENSP00000360771:Q881H;ENSP00000290037:Q881H;ENSP00000387583:Q881H	ENSP00000290037:Q881H	Q	-	3	2	SEC16A	138488712	0.213000	0.23551	0.271000	0.24616	0.029000	0.11900	-0.129000	0.10515	-0.077000	0.12752	-0.136000	0.14681	CAG	SEC16A-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000055077.1		-	ENST00000371706.3	Missense_Mutation	SNP	9 : 139368891 - 139368891 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	225	47
B3GNT7	93010	broad.mit.edu	37	2	232263043	232263043	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232263043C>T	ENST00000287590.5	+	2	874	c.613C>T	c.(613-615)Cag>Tag	p.Q205*		NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	205					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		CGACATCCTGCAGTGGGGCTT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	94	91			NA	NA	2		NA											NA				232263043		2138	4241	6379	SO:0001587	stop_gained			AK000770	CCDS46540.1	2q36.1	2013-02-21			ENSG00000156966	ENSG00000156966	93010	93010		Beta 3-glycosyltransferases	18811	protein-coding gene	gene with protein product		615313			NA	12061784	Standard	NM_145236	NM_145236	NA	Approved	beta3GnT7	uc002vrs.3	Q8NFL0	OTTHUMG00000153880	ENST00000287590.5:c.613C>T	2.37:g.232263043C>T	ENSP00000287590:p.Gln205*	NA	B3KWY4|B7WNP0	37	CCDS46540.1	.	.	.	.	.	.	.	.	.	.	C	38	6.822400	0.97865	.	.	ENSG00000156966	ENST00000287590	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	17.7321	0.88380	0.0:1.0:0.0:0.0	.	.	.	.	X	205	.	ENSP00000287590:Q205X	Q	+	1	0	B3GNT7	231971287	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.783000	0.85696	2.431000	0.82371	0.655000	0.94253	CAG	B3GNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000332827.1		+	ENST00000287590.5	Nonsense_Mutation	SNP	2 : 232263043 - 232263043 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	720	205
C1orf94	84970	broad.mit.edu	37	1	34663476	34663476	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:34663476C>T	ENST00000488417.1	+	2	1091	c.971C>T	c.(970-972)cCc>cTc	p.P324L	C1orf94_ENST00000373374.3_Missense_Mutation_p.P134L	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	134							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				TGTTCCAAGCCCAAGGCTGAC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	45	46			NA	NA	1		NA											NA				34663476		2203	4300	6503	SO:0001583	missense			AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698	84970	84970			28250	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_032884	NM_001134734	NA	Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.971C>T	1.37:g.34663476C>T	ENSP00000435634:p.Pro324Leu	NA	B3KVT1|D3DPR3|Q96IC8	37	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362091	0.41902	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.28454	1.61;1.61	4.78	4.78	0.61160	.	0.347910	0.24947	N	0.034333	T	0.31231	0.0790	L	0.52573	1.65	0.40830	D	0.983584	P	0.36909	0.573	B	0.37780	0.258	T	0.20874	-1.0262	10	0.59425	D	0.04	-9.4525	13.2926	0.60278	0.0:1.0:0.0:0.0	.	324	Q6P1W5	CA094_HUMAN	L	134;324	ENSP00000362472:P134L;ENSP00000435634:P324L	ENSP00000362472:P134L	P	+	2	0	C1orf94	34436063	0.037000	0.19845	0.941000	0.38009	0.684000	0.39900	1.286000	0.33273	2.194000	0.70268	0.557000	0.71058	CCC	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000036845.2		+	ENST00000488417.1	Missense_Mutation	SNP	1 : 34663476 - 34663476 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	19
HIC1	3090	broad.mit.edu	37	17	1960076	1960076	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1960076T>C	ENST00000399849.3	+	2	252	c.92T>C	c.(91-93)aTc>aCc	p.I31T	HIC1_ENST00000322941.3_Missense_Mutation_p.I50T	NM_006497.3	NP_006488.2	Q14526	HIC1_HUMAN	hypermethylated in cancer 1	NA					multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		TGCGACGTGATCATCGTGGTG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	40	39			NA	NA	17		NA											NA				1960076		2146	4271	6417	SO:0001583	missense				CCDS42229.1, CCDS42230.1	17p13.3	2013-01-09				ENSG00000177374	3090	3090		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	4909	protein-coding gene	gene with protein product		603825			NA		Standard	NM_006497	NM_006497	NA	Approved	ZBTB29, ZNF901	uc010cjy.3	Q14526		ENST00000399849.3:c.92T>C	17.37:g.1960076T>C	ENSP00000382742:p.Ile31Thr	NA	D3DTI4	37	CCDS42230.1	.	.	.	.	.	.	.	.	.	.	T	16.07	3.019842	0.54576	.	.	ENSG00000177374	ENST00000399849;ENST00000322941	T;T	0.62639	0.01;0.01	4.06	4.06	0.47325	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	.	.	.	.	T	0.43942	0.1270	N	0.11154	0.105	0.48511	D	0.999666	B	0.33883	0.43	B	0.35859	0.212	T	0.45673	-0.9245	9	0.38643	T	0.18	.	12.8345	0.57765	0.0:0.0:0.0:1.0	.	50	Q14526	HIC1_HUMAN	T	31;50	ENSP00000382742:I31T;ENSP00000314080:I50T	ENSP00000314080:I50T	I	+	2	0	HIC1	1906826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.676000	0.61627	1.706000	0.51276	0.459000	0.35465	ATC	HIC1-006	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438877.2		+	ENST00000399849.3	Missense_Mutation	SNP	17 : 1960076 - 1960076 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	321	9
TLE3	7090	broad.mit.edu	37	15	70358362	70358362	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:70358362C>T	ENST00000558939.1	-	7	1945	c.568G>A	c.(568-570)Gat>Aat	p.D190N	TLE3_ENST00000560939.1_Missense_Mutation_p.D195N|TLE3_ENST00000560589.1_Missense_Mutation_p.D134N|TLE3_ENST00000557997.1_Missense_Mutation_p.D190N|TLE3_ENST00000557907.1_Missense_Mutation_p.D190N|TLE3_ENST00000317509.8_Missense_Mutation_p.D190N|TLE3_ENST00000440567.3_Missense_Mutation_p.D183N|TLE3_ENST00000558379.1_Missense_Mutation_p.D190N|TLE3_ENST00000558201.1_Missense_Mutation_p.D196N|TLE3_ENST00000559929.1_Missense_Mutation_p.D200N|TLE3_ENST00000442299.2_Missense_Mutation_p.D190N|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000451782.2_Missense_Mutation_p.D190N|TLE3_ENST00000539550.1_Missense_Mutation_p.D134N|TLE3_ENST00000559048.1_Missense_Mutation_p.D195N	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	190	Gly/Pro-rich.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCTCTGTGATCGAGTTCATGG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	33	32			NA	NA	15		NA											NA				70358362		1858	4087	5945	SO:0001583	missense			M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332	7090	7090		WD repeat domain containing	11839	protein-coding gene	gene with protein product		600190	transducin-like enhancer of split 3, homolog of Drosophila E(sp1), transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)		NA	8365415	Standard	NM_005078	XM_005254623	NA	Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.568G>A	15.37:g.70358362C>T	ENSP00000452871:p.Asp190Asn	NA	Q8IVV6|Q8WVR2|Q9HCM5	37	CCDS45293.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.094663	0.56075	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550	T;T;T;T;T	0.52526	0.84;0.92;0.98;0.91;0.66	5.56	5.56	0.83823	.	0.112013	0.64402	D	0.000012	T	0.47488	0.1448	L	0.52573	1.65	0.53005	D	0.999965	B;B;B;P;P;P;P;P	0.38195	0.024;0.149;0.028;0.488;0.605;0.488;0.622;0.6	B;B;B;B;B;B;B;B	0.38296	0.011;0.025;0.027;0.088;0.087;0.088;0.27;0.181	T	0.41378	-0.9512	10	0.37606	T	0.19	-21.5296	19.131	0.93406	0.0:1.0:0.0:0.0	.	183;190;190;190;190;190;195;134	F8W964;E9PD64;Q04726-3;Q6PI57;Q04726-2;Q04726;Q04726-4;F5H7D6	.;.;.;.;.;TLE3_HUMAN;.;.	N	190;190;190;183;134	ENSP00000390007:D190N;ENSP00000394717:D190N;ENSP00000319233:D190N;ENSP00000415057:D183N;ENSP00000442594:D134N	ENSP00000319233:D190N	D	-	1	0	TLE3	68145416	1.000000	0.71417	0.996000	0.52242	0.346000	0.29079	5.861000	0.69553	2.609000	0.88269	0.655000	0.94253	GAT	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416913.1		-	ENST00000558939.1	Missense_Mutation	SNP	15 : 70358362 - 70358362 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	38
PTCHD3	374308	broad.mit.edu	37	10	27692284	27692284	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27692284A>C	ENST00000438700.3	-	3	1331	c.1214T>G	c.(1213-1215)tTt>tGt	p.F405C		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	405	SSD.				spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TATGCAGTCAAACCTGTAAAT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	89	91			NA	NA	10		NA											NA				27692284		2203	4300	6503	SO:0001583	missense			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077	374308	374308			24776	protein-coding gene	gene with protein product		611791			NA		Standard	XM_370541	NM_001034842	NA	Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.1214T>G	10.37:g.27692284A>C	ENSP00000417658:p.Phe405Cys	NA	Q6ZU28	37	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	A	0.168	-1.074373	0.01903	.	.	ENSG00000182077	ENST00000438700	D	0.91996	-2.95	4.09	-2.89	0.05665	Sterol-sensing domain (1);	1.570750	0.03132	N	0.165365	T	0.78886	0.4354	N	0.02960	-0.455	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.69289	-0.5184	10	0.27785	T	0.31	1.3274	5.6094	0.17396	0.2793:0.5362:0.0762:0.1084	.	405	Q3KNS1	PTHD3_HUMAN	C	405	ENSP00000417658:F405C	ENSP00000417658:F405C	F	-	2	0	PTCHD3	27732290	0.198000	0.23374	0.003000	0.11579	0.003000	0.03518	0.623000	0.24447	-0.412000	0.07519	0.459000	0.35465	TTT	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047325.3		-	ENST00000438700.3	Missense_Mutation	SNP	10 : 27692284 - 27692284 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	475	72
CHD3	1107	broad.mit.edu	37	17	7803329	7803329	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7803329G>A	ENST00000380358.4	+	16	2838	c.2837G>A	c.(2836-2838)cGa>cAa	p.R946Q	CHD3_ENST00000330494.7_Missense_Mutation_p.R887Q|CHD3_ENST00000358181.4_Missense_Mutation_p.R887Q	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	887					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GAGGCCCATCGACTCAAGAAC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	84	89			NA	NA	17		NA											NA				7803329		2203	4300	6503	SO:0001583	missense			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004	1107	1107		Zinc fingers, PHD-type	1918	protein-coding gene	gene with protein product		602120			NA	9326634, 7560064	Standard	NM_001005273	NM_001005271	NA	Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000380358.4:c.2837G>A	17.37:g.7803329G>A	ENSP00000369716:p.Arg946Gln	NA	D3DTQ9|Q9Y4I0	37	CCDS32553.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092861	0.76756	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.93307	-3.2;-3.2;-3.2	5.4	5.4	0.78164	DEAD-like helicase (2);DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site (1);SNF2-related (1);	0.000000	0.40144	N	0.001170	D	0.94814	0.8325	L	0.42581	1.335	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	P;P;P	0.60949	0.811;0.881;0.881	D	0.95076	0.8209	10	0.87932	D	0	-14.6293	19.3554	0.94410	0.0:0.0:1.0:0.0	.	887;887;946	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	Q	946;887;887	ENSP00000369716:R946Q;ENSP00000350907:R887Q;ENSP00000332628:R887Q	ENSP00000332628:R887Q	R	+	2	0	CHD3	7744054	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.601000	0.98297	2.813000	0.96785	0.561000	0.74099	CGA	CHD3-003	NOVEL	not_organism_supported|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318052.1		+	ENST00000380358.4	Missense_Mutation	SNP	17 : 7803329 - 7803329 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	178	25
KLF4	9314	broad.mit.edu	37	9	110249902	110249902	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:110249902C>T	ENST00000374672.4	-	3	1246	c.773G>A	c.(772-774)aGc>aAc	p.S258N		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	258	Pro-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						CACCGGGTGGCTGCCGTCAGG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	13	12			NA	NA	9		NA											NA				110249902		2143	4186	6329	SO:0001583	missense			AF022184	CCDS6770.2	9q31	2013-01-08			ENSG00000136826	ENSG00000136826	9314	9314		Kruppel-like transcription factors, Zinc fingers, C2H2-type	6348	protein-coding gene	gene with protein product		602253			NA	9422764, 16372018	Standard	NM_004235	NM_004235	NA	Approved	EZF, GKLF	uc004bdg.3	O43474	OTTHUMG00000020449	ENST00000374672.4:c.773G>A	9.37:g.110249902C>T	ENSP00000363804:p.Ser258Asn	NA	B2R8S4|B3KT79|P78338|Q5T3J8|Q5T3J9|Q8N717|Q9UNP3	37	CCDS6770.2	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090335	0.36855	.	.	ENSG00000136826	ENST00000374672	T	0.05580	3.42	4.68	4.68	0.58851	.	0.000000	0.49305	D	0.000155	T	0.04137	0.0115	N	0.19112	0.55	0.22435	N	0.999108	P;P	0.47302	0.808;0.893	B;B	0.33960	0.173;0.16	T	0.43081	-0.9413	10	0.40728	T	0.16	.	13.8346	0.63402	0.0:0.8459:0.1541:0.0	.	258;258	O43474;O43474-1	KLF4_HUMAN;.	N	258	ENSP00000363804:S258N	ENSP00000363804:S258N	S	-	2	0	KLF4	109289723	0.028000	0.19301	0.997000	0.53966	0.885000	0.51271	0.139000	0.16036	2.155000	0.67459	0.655000	0.94253	AGC	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053556.2		-	ENST00000374672.4	Missense_Mutation	SNP	9 : 110249902 - 110249902 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	171	25
IFI27L1	122509	broad.mit.edu	37	14	94568225	94568225	+	Missense_Mutation	SNP	G	G	A	rs148533447		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94568225G>A	ENST00000557066.1	+	5	347				IFI27L1_ENST00000553664.1_Missense_Mutation_p.R65H|IFI27L1_ENST00000554562.1_Missense_Mutation_p.A43T|IFI27L1_ENST00000557218.1_Intron|IFI27L1_ENST00000556381.1_Missense_Mutation_p.A42T|IFI27L1_ENST00000393115.3_Missense_Mutation_p.A43T|IFI27L1_ENST00000554544.1_Intron|IFI27L1_ENST00000555523.1_Missense_Mutation_p.A43T|IFI27L1_ENST00000553350.1_Intron			Q96BM0	I27L1_HUMAN	interferon, alpha-inducible protein 27-like 1	NA						integral to membrane				lung(2)	2						AGGAATCGCCGCATCCTCCAT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	121	96	105		127,127	2.6	0.2	14	dbSNP_134	105	0,8600		0,0,4300	no	missense,missense	IFI27L1	NM_145249.2,NM_206949.2	58,58	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	43/105,43/105	94568225	1,13005	2203	4300	6503	SO:0001627	intron_variant			BC015423	CCDS9919.1	14q32.13	2008-10-08	2008-10-08	2008-10-08		ENSG00000165948	122509	122509			19754	protein-coding gene	gene with protein product		611320	family with sequence similarity 14, member B	FAM14B	NA		Standard	NM_206949	NM_145249	NA	Approved		uc001yck.3	Q96BM0		ENST00000557066.1:c.62-598G>A	14.37:g.94568225G>A		NA		37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.12|15.12	2.739288|2.739288	0.49045|0.49045	2.27E-4|2.27E-4	0.0|0.0	ENSG00000165948|ENSG00000165948	ENST00000555523;ENST00000393115;ENST00000554166;ENST00000556381;ENST00000555341;ENST00000554562|ENST00000553664	T;T;T;T;T;T|.	0.47177|.	0.85;0.85;0.85;0.85;0.85;0.85|.	3.48|3.48	2.59|2.59	0.31030|0.31030	.|.	0.000000|.	0.64402|.	U|.	0.000005|.	T|T	0.76666|0.76666	0.4019|0.4019	M|M	0.91612|0.91612	3.225|3.225	0.39235|0.39235	D|D	0.963742|0.963742	P|.	0.47302|.	0.893|.	B|.	0.38842|.	0.283|.	T|T	0.78690|0.78690	-0.2106|-0.2106	10|5	0.66056|.	D|.	0.02|.	.|.	6.7502|6.7502	0.23483|0.23483	0.1294:0.0:0.8706:0.0|0.1294:0.0:0.8706:0.0	.|.	43|.	Q96BM0|.	I27L1_HUMAN|.	T|H	43;43;42;42;42;43|65	ENSP00000451851:A43T;ENSP00000376824:A43T;ENSP00000452226:A42T;ENSP00000451459:A42T;ENSP00000451608:A42T;ENSP00000450620:A43T|.	ENSP00000376824:A43T|.	A|R	+|+	1|2	0|0	IFI27L1|IFI27L1	93637978|93637978	0.997000|0.997000	0.39634|0.39634	0.239000|0.239000	0.24122|0.24122	0.000000|0.000000	0.00434|0.00434	5.284000|5.284000	0.65627|0.65627	1.063000|1.063000	0.40649|0.40649	-0.218000|-0.218000	0.12543|0.12543	GCA|CGC	IFI27L1-010	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000412879.1		+	ENST00000557066.1	Intron	SNP	14 : 94568225 - 94568225 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	256	61
RPH3AL	9501	broad.mit.edu	37	17	63652	63652	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:63652G>A	ENST00000323434.8	-	9	1449	c.852C>T	c.(850-852)tgC>tgT	p.C284C	RPH3AL_ENST00000331302.7_Silent_p.C313C|RPH3AL_ENST00000536489.2_Silent_p.C284C	NM_001190412.1	NP_001177341.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	313					exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		CTCAGCCCAGGCAGCTGGAGG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	26	24			NA	NA	17		NA											NA				63652		2203	4299	6502	SO:0001819	synonymous_variant				CCDS10994.1, CCDS54059.1	17p13.3	2014-07-02			ENSG00000181031	ENSG00000181031	9501	9501		Synaptotagmins	10296	protein-coding gene	gene with protein product		604881			NA	10395805	Standard	NM_006987	NM_006987	NA	Approved	Noc2	uc021tmx.1	Q9UNE2	OTTHUMG00000090273	ENST00000323434.8:c.852C>T	17.37:g.63652G>A		NA	D3DTG7|Q9BSB3	37	CCDS54059.1																																																																																			RPH3AL-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000436796.1		-	ENST00000323434.8	Silent	SNP	17 : 63652 - 63652 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	215	31
PDHA1	5160	broad.mit.edu	37	X	19373539	19373539	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:19373539C>T	ENST00000422285.2	+	7	781	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	PDHA1_ENST00000545074.1_Missense_Mutation_p.R233C|PDHA1_ENST00000540249.1_Missense_Mutation_p.R195C|PDHA1_ENST00000379806.5_Missense_Mutation_p.R264C			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	226					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	TGAGAATAATCGCTATGGAAT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	130	132			NA	NA	X		NA											NA				19373539		2203	4300	6503	SO:0001583	missense				CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	5160	5160	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA	NA		Standard		NM_001173454	NA	Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.676C>T	X.37:g.19373539C>T	ENSP00000394382:p.Arg226Cys	NA	Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	37	CCDS14192.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337215	0.81911	.	.	ENSG00000131828	ENST00000379806;ENST00000545074;ENST00000540249;ENST00000422285	D;D;D;D	0.97352	-4.35;-4.35;-4.35;-4.35	5.76	4.9	0.64082	Dehydrogenase, E1 component (1);	0.095399	0.64402	D	0.000001	D	0.97173	0.9076	M	0.70108	2.13	0.80722	D	1	D;D;D;D;D	0.69078	0.997;0.997;0.997;0.997;0.997	P;P;P;P;P	0.56398	0.773;0.797;0.759;0.762;0.759	D	0.96667	0.9493	10	0.62326	D	0.03	-23.0063	9.2392	0.37486	0.1438:0.7815:0.0:0.0748	.	195;233;226;264;226	B7Z3X5;B7Z3T7;B2R5P7;A5YVE9;P08559	.;.;.;.;ODPA_HUMAN	C	264;233;195;226	ENSP00000369134:R264C;ENSP00000438550:R233C;ENSP00000440761:R195C;ENSP00000394382:R226C	ENSP00000369134:R264C	R	+	1	0	PDHA1	19283460	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.064000	0.41432	1.313000	0.45069	0.594000	0.82650	CGC	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055977.1		+	ENST00000422285.2	Missense_Mutation	SNP	X : 19373539 - 19373539 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	692	187
OR5A1	219982	broad.mit.edu	37	11	59211369	59211369	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59211369C>T	ENST00000302030.2	+	1	753	c.728C>T	c.(727-729)aCg>aTg	p.T243M		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GCCTGCAACACGTGTGCCTCG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													288	235	253			NA	NA	11		NA											NA				59211369		2201	4295	6496	SO:0001583	missense			AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320	219982	219982		GPCR / Class A : Olfactory receptors	8319	protein-coding gene	gene with protein product				OR5A1P	NA		Standard	NM_001004728	NM_001004728	NA	Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.728C>T	11.37:g.59211369C>T	ENSP00000303096:p.Thr243Met	NA	B9EH58|Q6IFF2|Q96RB1	37	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473797	0.43942	.	.	ENSG00000172320	ENST00000302030	T	0.42513	0.97	5.98	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000042	T	0.76314	0.3970	H	0.96662	3.86	0.49915	D	0.999836	D	0.89917	1.0	D	0.97110	1.0	D	0.85296	0.1070	10	0.87932	D	0	-29.9675	15.5041	0.75725	0.1393:0.8607:0.0:0.0	.	243	Q8NGJ0	OR5A1_HUMAN	M	243	ENSP00000303096:T243M	ENSP00000303096:T243M	T	+	2	0	OR5A1	58967945	1.000000	0.71417	0.160000	0.22671	0.002000	0.02628	4.858000	0.62947	1.532000	0.49169	0.650000	0.86243	ACG	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394233.1		+	ENST00000302030.2	Missense_Mutation	SNP	11 : 59211369 - 59211369 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1055	205
TNXB	7148	broad.mit.edu	37	6	32016159	32016159	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32016159G>A	ENST00000375244.3	-	29	10227	c.10026C>T	c.(10024-10026)gtC>gtT	p.V3342V	TNXB_ENST00000375247.2_Silent_p.V3340V			P22105	TENX_HUMAN	tenascin XB	3387	Fibronectin type-III 25.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCTCCACAGGGACTGGGCCGT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	28	26			NA	NA	6		NA											NA				32016159		1965	4132	6097	SO:0001819	synonymous_variant			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477	7148	7148		Fibrinogen C domain containing, Fibronectin type III domain containing	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2	NA	8530023	Standard	NM_019105	NM_019105	NA	Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.10026C>T	6.37:g.32016159G>A		NA	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	37																																																																																				TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000268927.2		-	ENST00000375244.3	Silent	SNP	6 : 32016159 - 32016159 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	185	37
STRN4	29888	broad.mit.edu	37	19	47228829	47228829	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47228829C>T	ENST00000391910.3	-	10	1796	c.1346G>A	c.(1345-1347)cGt>cAt	p.R449H	STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000539396.1_Missense_Mutation_p.R323H|STRN4_ENST00000263280.6_Missense_Mutation_p.R442H			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	442						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		GGCCAGGGAACGAATGCCGTC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	84	84			NA	NA	19		NA											NA				47228829		2203	4300	6503	SO:0001583	missense			AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372	29888	29888		WD repeat domain containing	15721	protein-coding gene	gene with protein product		614767			NA	10748158	Standard		XM_006723171	NA	Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000391910.3:c.1346G>A	19.37:g.47228829C>T	ENSP00000375777:p.Arg449His	NA	Q8NE53	37	CCDS42581.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993046	0.93167	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396	T;T;T	0.62105	0.05;0.05;0.05	4.92	4.92	0.64577	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.76371	0.3978	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.78339	-0.2242	10	0.59425	D	0.04	-23.8563	16.8978	0.86105	0.0:1.0:0.0:0.0	.	449;442	F8VYA6;Q9NRL3	.;STRN4_HUMAN	H	449;442;323	ENSP00000375777:R449H;ENSP00000263280:R442H;ENSP00000440901:R323H	ENSP00000263280:R442H	R	-	2	0	STRN4	51920669	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	5.774000	0.68906	2.290000	0.77057	0.561000	0.74099	CGT	STRN4-002	KNOWN	NMD_exception|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466606.2		-	ENST00000391910.3	Missense_Mutation	SNP	19 : 47228829 - 47228829 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	52
DCBLD2	131566	broad.mit.edu	37	3	98541110	98541110	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98541110A>C	ENST00000326840.6	-	6	1154	c.792T>G	c.(790-792)taT>taG	p.Y264*	DCBLD2_ENST00000326857.9_Nonsense_Mutation_p.Y264*	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	264	LCCL.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						AACTTTCATAATAGGGGATAC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	59	61			NA	NA	3		NA											NA				98541110		1893	4123	6016	SO:0001587	stop_gained				CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019	131566	131566			24627	protein-coding gene	gene with protein product		608698			NA	11447234	Standard	NM_080927	NM_080927	NA	Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.792T>G	3.37:g.98541110A>C	ENSP00000321573:p.Tyr264*	NA	B7WNL1|D3DN41|Q8N6M4|Q8TDX2	37	CCDS46878.1	.	.	.	.	.	.	.	.	.	.	A	37	6.508712	0.97624	.	.	ENSG00000057019	ENST00000326840;ENST00000404023;ENST00000326857	.	.	.	5.83	4.01	0.46588	.	0.252743	0.42294	D	0.000734	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.9355	7.1549	0.25632	0.2823:0.0:0.7177:0.0	.	.	.	.	X	264;218;264	.	ENSP00000321573:Y264X	Y	-	3	2	DCBLD2	100023800	1.000000	0.71417	0.997000	0.53966	0.945000	0.59286	2.362000	0.44169	0.764000	0.33197	-0.472000	0.04984	TAT	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324675.2		-	ENST00000326840.6	Nonsense_Mutation	SNP	3 : 98541110 - 98541110 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	170	34
C1orf94	84970	broad.mit.edu	37	1	34666546	34666546	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:34666546C>A	ENST00000488417.1	+	3	1303	c.1183C>A	c.(1183-1185)Ctc>Atc	p.L395I	C1orf94_ENST00000373374.3_Missense_Mutation_p.L205I	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	205							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GAAGAACTTGCTCTATGAGTT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	50	50			NA	NA	1		NA											NA				34666546		2203	4300	6503	SO:0001583	missense			AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698	84970	84970			28250	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_032884	NM_001134734	NA	Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1183C>A	1.37:g.34666546C>A	ENSP00000435634:p.Leu395Ile	NA	B3KVT1|D3DPR3|Q96IC8	37	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.833400	0.32421	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.36157	1.27;1.27	5.73	3.63	0.41609	.	0.266792	0.26776	N	0.022549	T	0.38746	0.1052	L	0.58101	1.795	0.29571	N	0.84988	P	0.45957	0.869	P	0.47645	0.553	T	0.34850	-0.9812	10	0.51188	T	0.08	-15.6548	7.4085	0.27004	0.0:0.7679:0.0:0.2321	.	395	Q6P1W5	CA094_HUMAN	I	205;395	ENSP00000362472:L205I;ENSP00000435634:L395I	ENSP00000362472:L205I	L	+	1	0	C1orf94	34439133	0.996000	0.38824	0.999000	0.59377	0.134000	0.20937	0.660000	0.25009	0.583000	0.29574	0.655000	0.94253	CTC	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000036845.2		+	ENST00000488417.1	Missense_Mutation	SNP	1 : 34666546 - 34666546 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	198	38
CELSR3	1951	broad.mit.edu	37	3	48699383	48699383	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48699383C>A	ENST00000164024.4	-	1	965	c.685G>T	c.(685-687)Gcc>Tcc	p.A229S	CELSR3_ENST00000544264.1_Missense_Mutation_p.A229S	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	229					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGCCGGGGGGCTGTCCTTTCT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	63	61			NA	NA	3		NA											NA				48699383		2202	4299	6501	SO:0001583	missense			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300	1951	1951		Cadherins / Major cadherins, -, GPCR / Class B : Orphans	3230	protein-coding gene	gene with protein product	flamingo homolog 1 (Drosophila)	604264	cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog	EGFL1	NA	9693030	Standard	NM_001407	NM_001407	NA	Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.685G>T	3.37:g.48699383C>A	ENSP00000164024:p.Ala229Ser	NA	O75092	37	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	0.030	-1.339064	0.01287	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.69806	-0.43;-0.43	4.06	-1.23	0.09465	.	.	.	.	.	T	0.37210	0.0995	N	0.08118	0	0.09310	N	1	B;B	0.13594	0.002;0.008	B;B	0.16722	0.01;0.016	T	0.17623	-1.0363	9	0.18710	T	0.47	.	2.846	0.05543	0.1907:0.5242:0.1239:0.1611	.	229;299	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	S	229	ENSP00000164024:A229S;ENSP00000445694:A229S	ENSP00000164024:A229S	A	-	1	0	CELSR3	48674387	0.000000	0.05858	0.000000	0.03702	0.404000	0.30871	-0.520000	0.06252	-0.245000	0.09625	0.609000	0.83330	GCC	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257523.1		-	ENST00000164024.4	Missense_Mutation	SNP	3 : 48699383 - 48699383 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	697	25
RNF40	9810	broad.mit.edu	37	16	30778156	30778156	+	Missense_Mutation	SNP	G	G	A	rs11556801		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30778156G>A	ENST00000563683.1	+	10	1378	c.1268G>A	c.(1267-1269)cGc>cAc	p.R423H	RNF40_ENST00000324685.6_Missense_Mutation_p.R463H|RNF40_ENST00000402121.3_Missense_Mutation_p.R155H|RNF40_ENST00000357890.5_Missense_Mutation_p.R363H			O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	463					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GAGATGCTGCGCATCGAGTTT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	49	56			NA	NA	16		NA											NA				30778156		2197	4300	6497	SO:0001583	missense			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549	9810	9810		RING-type (C3HC4) zinc fingers	16867	protein-coding gene	gene with protein product	BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)	607700	ring finger protein 40		NA	9734811, 10944455, 12121982	Standard	NM_014771	NM_014771	NA	Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000563683.1:c.1268G>A	16.37:g.30778156G>A	ENSP00000455180:p.Arg423His	NA	Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	37		.	.	.	.	.	.	.	.	.	.	G	35	5.522352	0.96431	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000402121	T;T;T	0.37235	1.21;1.21;1.21	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.66307	0.2776	M	0.84948	2.725	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.68454	-0.5404	10	0.52906	T	0.07	-11.9928	18.7552	0.91830	0.0:0.0:1.0:0.0	rs11556801;rs11556801	155;363;463;463	F8W8Z4;O75150-4;A8K6K1;O75150	.;.;.;BRE1B_HUMAN	H	463;363;155	ENSP00000325677:R463H;ENSP00000350563:R363H;ENSP00000384942:R155H	ENSP00000325677:R463H	R	+	2	0	RNF40	30685657	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.209000	0.95087	2.723000	0.93209	0.655000	0.94253	CGC	RNF40-011	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000434279.1		+	ENST00000563683.1	Missense_Mutation	SNP	16 : 30778156 - 30778156 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	175	44
KIAA1217	56243	broad.mit.edu	37	10	24783453	24783453	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24783453A>G	ENST00000307544.6	+	3	1165				KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376454.3_Silent_p.K568K|KIAA1217_ENST00000376451.2_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376462.1_Silent_p.K488K|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376452.3_Intron	NM_001282769.1	NP_001269698.1	Q5T5P2	SKT_HUMAN	KIAA1217	NA					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCATGGAGAAACAGATTGCCA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	100	102			NA	NA	10		NA											NA				24783453		2203	4300	6503	SO:0001627	intron_variant			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549	56243	56243			25428	protein-coding gene	gene with protein product	sickle tail				NA	10574462	Standard	NM_019590	XM_005252500	NA	Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000307544.6:c.834-623A>G	10.37:g.24783453A>G		NA	A5LHW9|A6PVQ5|A6PVQ6|A6PVQ7|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	37																																																																																				KIAA1217-001	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000047220.2		+	ENST00000307544.6	Intron	SNP	10 : 24783453 - 24783453 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	284	55
IQUB	154865	broad.mit.edu	37	7	123152119	123152119	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123152119C>T	ENST00000466202.1	-	2	852	c.276G>A	c.(274-276)ccG>ccA	p.P92P	IQUB_ENST00000488987.1_Intron|IQUB_ENST00000324698.6_Silent_p.P92P|IQUB_ENST00000434450.1_Silent_p.P92P	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	92										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						CATGATGTTGCGGAGTATATG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	216	185	196		276	-0.1	0	7		196	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	IQUB	NM_178827.4		0,2,6501	TT,TC,CC	NA	0.0233,0.0,0.0154		92/792	123152119	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675	154865	154865			21995	protein-coding gene	gene with protein product					NA		Standard	NM_178827	NM_178827	NA	Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.276G>A	7.37:g.123152119C>T		NA	A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	37	CCDS5787.1																																																																																			IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348529.1		-	ENST00000466202.1	Silent	SNP	7 : 123152119 - 123152119 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	575	94
TADA2A	6871	broad.mit.edu	37	17	35837053	35837053	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35837053T>A	ENST00000394395.2	+	16	1471	c.1298T>A	c.(1297-1299)tTc>tAc	p.F433Y	TADA2A_ENST00000225396.6_Missense_Mutation_p.F433Y	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	433	SWIRM.				histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						ATCTATGATTTCCTCATCAGA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	135	134			NA	NA	17		NA											NA				35837053		2203	4300	6503	SO:0001583	missense			AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234	6871	6871			11531	protein-coding gene	gene with protein product		602276	transcriptional adaptor 2 (ADA2 homolog, yeast)-like	TADA2L	NA	8552087	Standard	NM_001488	XM_006722043	NA	Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.1298T>A	17.37:g.35837053T>A	ENSP00000377918:p.Phe433Tyr	NA	A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	37	CCDS11319.1	.	.	.	.	.	.	.	.	.	.	T	31	5.071877	0.93950	.	.	ENSG00000108264	ENST00000394395;ENST00000428846;ENST00000225396	T;T	0.47869	0.83;0.83	5.71	5.71	0.89125	Homeodomain-like (1);SWIRM (2);	0.000000	0.85682	D	0.000000	T	0.69904	0.3163	M	0.80982	2.52	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.70809	-0.4771	10	0.38643	T	0.18	-16.576	15.9804	0.80105	0.0:0.0:0.0:1.0	.	433	O75478	TAD2A_HUMAN	Y	433;332;433	ENSP00000377918:F433Y;ENSP00000225396:F433Y	ENSP00000225396:F433Y	F	+	2	0	TADA2A	32911166	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.845000	0.86875	2.176000	0.68965	0.455000	0.32223	TTC	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256677.3		+	ENST00000394395.2	Missense_Mutation	SNP	17 : 35837053 - 35837053 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	985	211
GPATCH8	23131	broad.mit.edu	37	17	42476826	42476826	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42476826G>A	ENST00000591680.1	-	8	2649	c.2619C>T	c.(2617-2619)agC>agT	p.S873S	GPATCH8_ENST00000434000.1_Silent_p.S795S	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	873	Ser-rich.					intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		AGGCATCTGAGCTACTTGAGT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	114	119			NA	NA	17		NA											NA				42476826		2203	4300	6503	SO:0001819	synonymous_variant			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566	23131	23131		G patch domain containing	29066	protein-coding gene	gene with protein product		614396	KIAA0553	KIAA0553, GPATC8	NA	9628581	Standard	NM_001002909	NM_001002909	NA	Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.2619C>T	17.37:g.42476826G>A		NA	B9EGP9|O60300|Q8TB99	37	CCDS32666.1																																																																																			GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457797.1		-	ENST00000591680.1	Silent	SNP	17 : 42476826 - 42476826 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	705	127
ADAM17	6868	broad.mit.edu	37	2	9676016	9676016	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9676016C>T	ENST00000497134.1	-	4	583	c.397G>A	c.(397-399)Gat>Aat	p.D133N	ADAM17_ENST00000310823.3_Missense_Mutation_p.D133N			P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	133					B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		ACATCATCATCTCTTATGTGG	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	60	59			NA	NA	2		NA											NA				9676016		2202	4298	6500	SO:0001583	missense			U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694	6868	6868		ADAM metallopeptidase domain containing, CD molecules	195	protein-coding gene	gene with protein product		603639	tumor necrosis factor, alpha, converting enzyme	TACE	NA	9034190, 9574564	Standard		NM_003183	NA	Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000497134.1:c.397G>A	2.37:g.9676016C>T	ENSP00000418728:p.Asp133Asn	NA	O60226	37		.	.	.	.	.	.	.	.	.	.	C	25.9	4.684898	0.88639	.	.	ENSG00000151694	ENST00000310823;ENST00000497134;ENST00000538558	T;T	0.67698	1.92;-0.28	5.33	5.33	0.75918	Peptidase M12B, propeptide (1);	0.226724	0.43260	D	0.000593	T	0.79822	0.4512	L	0.54908	1.71	0.58432	D	0.999997	D;P;D;P	0.89917	1.0;0.605;1.0;0.605	D;B;D;B	0.97110	1.0;0.264;1.0;0.264	T	0.80214	-0.1475	10	0.59425	D	0.04	.	19.3847	0.94551	0.0:1.0:0.0:0.0	.	133;133;133;133	A8K1B4;B2RNB2;Q6P5T8;P78536	.;.;.;ADA17_HUMAN	N	133	ENSP00000309968:D133N;ENSP00000418728:D133N	ENSP00000309968:D133N	D	-	1	0	ADAM17	9593467	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.452000	0.52971	2.642000	0.89623	0.557000	0.71058	GAT	ADAM17-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000353336.1		-	ENST00000497134.1	Missense_Mutation	SNP	2 : 9676016 - 9676016 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	249	14
NRXN3	9369	broad.mit.edu	37	14	79454462	79454462	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:79454462T>C	ENST00000554719.1	+	12	2612	c.2121T>C	c.(2119-2121)taT>taC	p.Y707Y	NRXN3_ENST00000335750.5_Silent_p.Y707Y	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGACCTCTTATTCTGGAAACC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	156	160			NA	NA	14		NA											NA				79454462		2203	4300	6503	SO:0001819	synonymous_variant			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645	9369	9369			8010	protein-coding gene	gene with protein product		600567	chromosome 14 open reading frame 60	C14orf60	NA	11944992, 12379233	Standard	NM_001105250	NM_004796	NA	Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.2121T>C	14.37:g.79454462T>C		NA	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	37	CCDS9870.1																																																																																			NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413787.1		+	ENST00000554719.1	Silent	SNP	14 : 79454462 - 79454462 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	531	97
PTPN21	11099	broad.mit.edu	37	14	88946237	88946237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88946237C>T	ENST00000556564.1	-	13	1822	c.1538G>A	c.(1537-1539)aGc>aAc	p.S513N	PTPN21_ENST00000328736.3_Missense_Mutation_p.S513N	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	513						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTAGCTCAGGCTGAACGGGCA	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	44	41			NA	NA	14		NA											NA				88946237		2201	4298	6499	SO:0001583	missense			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778	11099	11099		Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor	9651	protein-coding gene	gene with protein product		603271			NA	7519780	Standard		NM_007039	NA	Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.1538G>A	14.37:g.88946237C>T	ENSP00000452414:p.Ser513Asn	NA		37	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	C	0.939	-0.710303	0.03230	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.71222	-0.55;-0.55	5.35	-10.7	0.00240	.	0.392170	0.29987	N	0.010681	T	0.21674	0.0522	N	0.00521	-1.4	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46062	-0.9218	10	0.02654	T	1	.	8.8099	0.34961	0.0:0.2595:0.4736:0.2669	.	513	Q16825	PTN21_HUMAN	N	513	ENSP00000330276:S513N;ENSP00000452414:S513N	ENSP00000330276:S513N	S	-	2	0	PTPN21	88015990	0.516000	0.26218	0.000000	0.03702	0.349000	0.29174	0.820000	0.27323	-2.497000	0.00513	-0.311000	0.09066	AGC	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410303.1		-	ENST00000556564.1	Missense_Mutation	SNP	14 : 88946237 - 88946237 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	585	115
IMPDH2	3615	broad.mit.edu	37	3	49062389	49062389	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49062389C>T	ENST00000326739.4	-	11	1274	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H		NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 2	412	IMP binding (By similarity).				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	ACCCATACCGCGATATTTCTT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	75	76			NA	NA	3		NA											NA				49062389		2203	4300	6503	SO:0001583	missense				CCDS2786.1	3p21.2	2014-05-15	2010-04-29		ENSG00000178035	ENSG00000178035	3615	3615	1.1.1.205		6053	protein-coding gene	gene with protein product		146691			NA	9858805, 1969416	Standard		XM_006713128	NA	Approved		uc003cvt.3	P12268	OTTHUMG00000156771	ENST00000326739.4:c.1235G>A	3.37:g.49062389C>T	ENSP00000321584:p.Arg412His	NA	Q6LEF3	37	CCDS2786.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.040572	0.93630	.	.	ENSG00000178035	ENST00000326739	D	0.81499	-1.5	5.33	5.33	0.75918	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	D	0.93766	0.8007	H	0.97291	3.975	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.95832	0.8859	10	0.87932	D	0	-11.5071	19.0076	0.92857	0.0:1.0:0.0:0.0	.	412	P12268	IMDH2_HUMAN	H	412	ENSP00000321584:R412H	ENSP00000321584:R412H	R	-	2	0	IMPDH2	49037393	1.000000	0.71417	0.680000	0.29994	0.989000	0.77384	7.369000	0.79578	2.489000	0.83994	0.655000	0.94253	CGC	IMPDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345657.1		-	ENST00000326739.4	Missense_Mutation	SNP	3 : 49062389 - 49062389 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	375	10
DCP2	167227	broad.mit.edu	37	5	112321682	112321682	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112321682T>C	ENST00000389063.2	+	2	402	c.204T>C	c.(202-204)gcT>gcC	p.A68A	DCP2_ENST00000515408.1_Splice_Site_p.A68A|DCP2_ENST00000543319.1_Intron	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	68					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		TTGCTAAAGCTGATATCCTTT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	141	144			NA	NA	5		NA											NA				112321682		2202	4300	6502	SO:0001630	splice_region_variant			AY135173	CCDS34210.1, CCDS56377.1	5q22	2013-05-02	2013-05-02		ENSG00000172795	ENSG00000172795	167227	167227	3.6.1.62	Nudix motif containing	24452	protein-coding gene	gene with protein product	nudix (nucleoside diphosphate linked moiety X)-type motif 20, M(7)GpppN-mRNA hydrolase	609844	DCP2 decapping enzyme homolog (S. cerevisiae)		NA	12218187, 12417715	Standard	NM_152624	NM_152624	NA	Approved	NUDT20	uc003kqh.3	Q8IU60	OTTHUMG00000162853	ENST00000389063.2:c.205+1T>C	5.37:g.112321682T>C		NA	C9J778|Q6P2D4|Q7Z5W5|Q8NBG5	37	CCDS34210.1																																																																																			DCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370765.3	Silent	+	ENST00000389063.2	Splice_Site	SNP	5 : 112321682 - 112321682 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	507	86
ROBO1	6091	broad.mit.edu	37	3	78711157	78711157	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:78711157C>T	ENST00000464233.1	-	15	2187	c.2074G>A	c.(2074-2076)Gaa>Aaa	p.E692K	ROBO1_ENST00000495273.1_Missense_Mutation_p.E656K|ROBO1_ENST00000467549.1_Missense_Mutation_p.E656K|ROBO1_ENST00000436010.2_Missense_Mutation_p.E653K	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	692	Fibronectin type-III 2.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CAGTGCACTTCGATGGAAGAG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	LYS/GLU,LYS/GLU,LYS/GLU	0,3862		0,0,1931	71	78	76		1966,2074,1966	5.4	1	3		76	3,8277		0,3,4137	yes	missense,missense,missense	ROBO1	NM_001145845.1,NM_002941.3,NM_133631.3	56,56,56	0,3,6068	TT,TC,CC	NA	0.0362,0.0,0.0247	benign,benign,benign	656/1552,692/1652,656/1607	78711157	3,12139	1931	4140	6071	SO:0001583	missense			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855	6091	6091		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	10249	protein-coding gene	gene with protein product		602430	roundabout (axon guidance receptor, Drosophila) homolog 1		NA	9458045, 9608531	Standard	NM_002941	NM_002941	NA	Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.2074G>A	3.37:g.78711157C>T	ENSP00000420321:p.Glu692Lys	NA	D3DU36|Q7Z300|Q9BUS7	37	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417834	0.42918	0.0	3.62E-4	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.42	5.42	0.78866	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.136555	0.64402	D	0.000003	T	0.41880	0.1178	N	0.19112	0.55	0.40617	D	0.98172	B;B;B;P;B;B	0.45212	0.221;0.066;0.422;0.853;0.066;0.053	B;B;B;B;B;B	0.41271	0.039;0.032;0.19;0.352;0.032;0.031	T	0.30031	-0.9992	9	.	.	.	.	19.2213	0.93797	0.0:1.0:0.0:0.0	.	656;656;692;656;656;653	Q9Y6N7-3;Q1RMC7;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;.;ROBO1_HUMAN;.;.;.	K	653;656;692;656;656;696	ENSP00000406043:E653K;ENSP00000420321:E692K;ENSP00000420637:E656K;ENSP00000417992:E656K	.	E	-	1	0	ROBO1	78793847	0.983000	0.35010	0.983000	0.44433	0.985000	0.73830	2.454000	0.44979	2.516000	0.84829	0.555000	0.69702	GAA	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352610.1		-	ENST00000464233.1	Missense_Mutation	SNP	3 : 78711157 - 78711157 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	81	17
PRRC2B	84726	broad.mit.edu	37	9	134319600	134319600	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134319600C>A	ENST00000405995.1	+	6	724	c.498C>A	c.(496-498)tcC>tcA	p.S166S	PRRC2B_ENST00000458550.1_Silent_p.S166S|PRRC2B_ENST00000357304.4_Silent_p.S166S			Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	166							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GACTGTTATCCTTCTCTCCCG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	64	65			NA	NA	9		NA											NA				134319600		1975	4165	6140	SO:0001819	synonymous_variant			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723	84726	84726			28121	protein-coding gene	gene with protein product			KIAA0515, HLA-B associated transcript 2-like, HLA-B associated transcript 2-like 1	KIAA0515, BAT2L, BAT2L1	NA	9628581	Standard		NM_013318	NA	Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000405995.1:c.498C>A	9.37:g.134319600C>A		NA	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	37																																																																																				PRRC2B-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000054751.1		+	ENST00000405995.1	Silent	SNP	9 : 134319600 - 134319600 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	212	40
DNAJC13	23317	broad.mit.edu	37	3	132180039	132180039	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132180039A>C	ENST00000260818.6	+	15	1951	c.1703A>C	c.(1702-1704)aAa>aCa	p.K568T	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	568							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ACCCTTTTTAAACTTTTTCAG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	127	127			NA	NA	3		NA											NA				132180039		2203	4300	6503	SO:0001583	missense			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246	23317	23317		Heat shock proteins / DNAJ (HSP40)	30343	protein-coding gene	gene with protein product		614334			NA	12438707	Standard	NM_015268	NM_015268	NA	Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.1703A>C	3.37:g.132180039A>C	ENSP00000260818:p.Lys568Thr	NA	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	37	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.324850	0.81580	.	.	ENSG00000138246	ENST00000260818	T	0.37584	1.19	5.43	5.43	0.79202	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45955	0.1368	M	0.77103	2.36	0.58432	D	0.999998	P;P	0.47302	0.893;0.759	B;B	0.43536	0.423;0.202	T	0.54563	-0.8275	10	0.62326	D	0.03	.	15.7657	0.78126	1.0:0.0:0.0:0.0	.	568;568	A7E2Y5;O75165	.;DJC13_HUMAN	T	568	ENSP00000260818:K568T	ENSP00000260818:K568T	K	+	2	0	DNAJC13	133662729	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.526000	0.81920	2.187000	0.69744	0.460000	0.39030	AAA	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356807.2		+	ENST00000260818.6	Missense_Mutation	SNP	3 : 132180039 - 132180039 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	516	92
NTRK3	4916	broad.mit.edu	37	15	88472622	88472622	+	Missense_Mutation	SNP	G	G	A	rs139392904	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:88472622G>A	ENST00000542733.2	-	15	1798	c.1639C>T	c.(1639-1641)Cgc>Tgc	p.R547C	NTRK3_ENST00000360948.2_Missense_Mutation_p.R645C|NTRK3_ENST00000557856.1_Missense_Mutation_p.R637C|NTRK3_ENST00000355254.2_Missense_Mutation_p.R645C|NTRK3_ENST00000357724.2_Missense_Mutation_p.R637C|NTRK3_ENST00000558676.1_Missense_Mutation_p.R637C|NTRK3_ENST00000394480.2_Missense_Mutation_p.R645C			Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	645	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGGCCTGGCGTGGCTGTCCA	0.587		NA	T	ETV6	congenital fibrosarcoma, Secretory breast 					TSP Lung(13;0.10)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		15	15q25	4916	neurotrophic tyrosine kinase, receptor, type 3		E, M	0								G	CYS/ARG,CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	56	51	53		1933,1933	5.2	1	15	dbSNP_134	53	9,8589	6.4+/-24.3	0,9,4290	yes	missense,missense	NTRK3	NM_001012338.2,NM_002530.3	180,180	0,10,6490	AA,AG,GG	NA	0.1047,0.0227,0.0769	probably-damaging,probably-damaging	645/840,645/826	88472622	10,12990	2201	4299	6500	SO:0001583	missense			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	4916	4916	2.7.10.1	Immunoglobulin superfamily / I-set domain containing	8033	protein-coding gene	gene with protein product		191316			NA	7806211	Standard		NM_001012338	NA	Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000542733.2:c.1639C>T	15.37:g.88472622G>A	ENSP00000437773:p.Arg547Cys	NA	O75682|Q12827|Q16289	37		.	.	.	.	.	.	.	.	.	.	G	22.2	4.255390	0.80135	2.27E-4	0.001047	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733	D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5	5.16	5.16	0.70880	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.059478	0.64402	D	0.000001	D	0.91981	0.7460	L	0.58302	1.8	0.80722	D	1	D;D;D;D;D	0.69078	0.995;0.995;0.992;0.994;0.997	P;P;P;P;P	0.57548	0.684;0.684;0.684;0.556;0.823	D	0.92621	0.6108	10	0.62326	D	0.03	.	17.6599	0.88189	0.0:0.0:1.0:0.0	.	547;637;637;645;645	B7Z7U4;E9PG56;B7Z4C5;Q16288-3;Q16288	.;.;.;.;NTRK3_HUMAN	C	645;645;637;645;547	ENSP00000377990:R645C;ENSP00000354207:R645C;ENSP00000350356:R637C;ENSP00000347397:R645C;ENSP00000437773:R547C	ENSP00000347397:R645C	R	-	1	0	NTRK3	86273626	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.519000	0.60517	2.409000	0.81822	0.655000	0.94253	CGC	NTRK3-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000415277.1		-	ENST00000542733.2	Missense_Mutation	SNP	15 : 88472622 - 88472622 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	151	26
KCNK9	51305	broad.mit.edu	37	8	140714984	140714984	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:140714984G>T	ENST00000520439.1	-	1	315	c.252C>A	c.(250-252)ttC>ttA	p.F84L	KCNK9_ENST00000303015.1_Missense_Mutation_p.F84L	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	84						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			TCGCAAAGTAGAAGGAGCCGG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	39	38			NA	NA	8		NA											NA				140714984		2203	4300	6503	SO:0001583	missense			AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427	51305	51305		Potassium channels, Voltage-gated ion channels / Potassium channels, Two-P	6283	protein-coding gene	gene with protein product		605874			NA	10734076, 16382106	Standard	NM_016601	NM_001282534	NA	Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.252C>A	8.37:g.140714984G>T	ENSP00000430676:p.Phe84Leu	NA	Q2M290|Q540F2	37	CCDS6377.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909430	0.72868	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.26067	1.76;1.76;1.76	3.87	2.99	0.34606	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.23926	0.0579	L	0.28344	0.845	0.58432	D	0.999993	P	0.44195	0.828	P	0.50934	0.654	T	0.01884	-1.1254	10	0.42905	T	0.14	.	7.3744	0.26821	0.2046:0.0:0.7954:0.0	.	84	Q9NPC2	KCNK9_HUMAN	L	84	ENSP00000429847:F84L;ENSP00000302166:F84L;ENSP00000430676:F84L	ENSP00000302166:F84L	F	-	3	2	KCNK9	140784166	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.417000	0.59822	0.716000	0.32124	0.555000	0.69702	TTC	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378473.1		-	ENST00000520439.1	Missense_Mutation	SNP	8 : 140714984 - 140714984 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	148	20
NPHS1	4868	broad.mit.edu	37	19	36339215	36339215	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36339215C>T	ENST00000378910.5	-	10	1254	c.1255G>A	c.(1255-1257)Gcc>Acc	p.A419T	NPHS1_ENST00000353632.6_Missense_Mutation_p.A419T	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	419	Ig-like C2-type 4.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCACTGAAGGCCTCACATGTG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	103	107			NA	NA	19		NA											NA				36339215		2203	4300	6503	SO:0001583	missense				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270	4868	4868		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	7908	protein-coding gene	gene with protein product		602716			NA	9915943, 9660941	Standard		NM_004646	NA	Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.1255G>A	19.37:g.36339215C>T	ENSP00000368190:p.Ala419Thr	NA	A6NDH2|C3RX61	37	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067564	0.55539	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	D;D	0.91351	-2.83;-2.83	5.43	4.38	0.52667	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.183078	0.46758	D	0.000271	D	0.95198	0.8443	M	0.82517	2.595	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	D	0.95525	0.8598	10	0.72032	D	0.01	-25.7883	13.8765	0.63655	0.0:0.8458:0.1542:0.0	.	419	O60500	NPHN_HUMAN	T	419	ENSP00000368190:A419T;ENSP00000343634:A419T	ENSP00000343634:A419T	A	-	1	0	NPHS1	41031055	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	5.341000	0.65964	1.259000	0.44117	-0.282000	0.10007	GCC	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452553.1		-	ENST00000378910.5	Missense_Mutation	SNP	19 : 36339215 - 36339215 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	454	25
RFX6	222546	broad.mit.edu	37	6	117203554	117203554	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117203554C>A	ENST00000332958.2	+	4	545	c.529C>A	c.(529-531)Cta>Ata	p.L177I		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	177					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GTTTCCCCTCCTAACAACAAG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	90	94			NA	NA	6		NA											NA				117203554		2203	4300	6503	SO:0001583	missense			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002	222546	222546			21478	protein-coding gene	gene with protein product		612659	regulatory factor X domain containing 1	RFXDC1	NA		Standard	NM_173560	NM_173560	NA	Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.529C>A	6.37:g.117203554C>A	ENSP00000332208:p.Leu177Ile	NA	Q5T6B3	37	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094011	0.76870	.	.	ENSG00000185002	ENST00000332958	D	0.84944	-1.92	5.67	3.77	0.43336	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.000000	0.64402	D	0.000001	D	0.82793	0.5114	L	0.39467	1.215	0.53005	D	0.999967	D	0.71674	0.998	D	0.76575	0.988	D	0.83939	0.0310	10	0.87932	D	0	-12.8362	7.4403	0.27179	0.0:0.7691:0.0:0.2309	.	177	Q8HWS3	RFX6_HUMAN	I	177	ENSP00000332208:L177I	ENSP00000332208:L177I	L	+	1	2	RFX6	117310247	0.969000	0.33509	0.973000	0.42090	0.996000	0.88848	1.594000	0.36697	0.636000	0.30508	0.650000	0.86243	CTA	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041970.2		+	ENST00000332958.2	Missense_Mutation	SNP	6 : 117203554 - 117203554 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	285	58
WNT5A	7474	broad.mit.edu	37	3	55504170	55504170	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:55504170C>T	ENST00000474267.1	-	6	1614	c.1093G>A	c.(1093-1095)Gtc>Atc	p.V365I	WNT5A_ENST00000264634.4_Missense_Mutation_p.V365I|WNT5A_ENST00000497027.1_Missense_Mutation_p.V350I			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	365					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.V458L(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		TTGCACTTGACGTAGCAGCAC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	urinary_tract(1)											88	90	89			NA	NA	3		NA											NA				55504170		2203	4300	6503	SO:0001583	missense			L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251	7474	7474		Wingless-type MMTV integration sites, Endogenous ligands	12784	protein-coding gene	gene with protein product	WNT-5A protein	164975			NA	8288227	Standard	NM_003392	NM_001256105	NA	Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.1093G>A	3.37:g.55504170C>T	ENSP00000417310:p.Val365Ile	NA	A8K4A4|Q6P278	37	CCDS46850.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.294609|5.294609	0.95546|0.95546	.|.	.|.	ENSG00000114251|ENSG00000114251	ENST00000442038|ENST00000474267;ENST00000264634;ENST00000536765;ENST00000497027	.|D;D;D	.|0.82255	.|-1.59;-1.59;-1.59	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93012|0.93012	0.7776|0.7776	M|M	0.88906|0.88906	2.99|2.99	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.93481|0.93481	0.6827|0.6827	6|10	0.87932|0.87932	D|D	0|0	.|.	20.0953|20.0953	0.97838|0.97838	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|365	.|P41221	.|WNT5A_HUMAN	H|I	97|365;365;276;350	.|ENSP00000417310:V365I;ENSP00000264634:V365I;ENSP00000420104:V350I	ENSP00000395272:R97H|ENSP00000264634:V365I	R|V	-|-	2|1	0|0	WNT5A|WNT5A	55479210|55479210	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.813000|7.813000	0.86123|0.86123	2.767000|2.767000	0.95098|0.95098	0.655000|0.655000	0.94253|0.94253	CGT|GTC	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350793.3		-	ENST00000474267.1	Missense_Mutation	SNP	3 : 55504170 - 55504170 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	434	17
GRIK4	2900	broad.mit.edu	37	11	120769288	120769288	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120769288C>A	ENST00000527524.2	+	12	1499	c.1212C>A	c.(1210-1212)ctC>ctA	p.L404L	GRIK4_ENST00000438375.2_Silent_p.L404L	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	404					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	ACAGCCACCTCTATGCCTCCA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													214	141	166			NA	NA	11		NA											NA				120769288		2203	4299	6502	SO:0001819	synonymous_variant			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403	2900	2900		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4582	protein-coding gene	gene with protein product		600282		GRIK	NA		Standard	NM_014619	NM_001282470	NA	Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1212C>A	11.37:g.120769288C>A		NA	A8K9L1	37	CCDS8433.1																																																																																			GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109760.4		+	ENST00000527524.2	Silent	SNP	11 : 120769288 - 120769288 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	53
PCDHA2	56146	broad.mit.edu	37	5	140176734	140176734	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140176734G>A	ENST00000520672.2	+	1	2291	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K	PCDHA2_ENST00000526136.1_Missense_Mutation_p.E729K|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E729K|PCDHA1_ENST00000394633.3_Intron	NM_031496.1	NP_113684.1			protocadherin alpha 2	NA										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACCCACCGAGGGTGCGCG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	57	57			NA	NA	5		NA											NA				140176734		2203	4299	6502	SO:0001583	missense			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969	56146	56146		Cadherins / Protocadherins : Clustered	8668	other	complex locus constituent	KIAA0345-like 12	606308			NA	10380929	Standard	NM_018905	NM_018905	NA	Approved			Q9Y5H9		ENST00000520672.2:c.2185G>A	5.37:g.140176734G>A	ENSP00000430584:p.Glu729Lys	NA		37		.	.	.	.	.	.	.	.	.	.	g	6.745	0.506288	0.12883	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.13657	2.57;2.57;2.57	2.91	1.05	0.20165	.	1.627180	0.04542	U	0.388267	T	0.24736	0.0600	M	0.89601	3.045	0.09310	N	1	B;B;B	0.24368	0.102;0.064;0.1	B;B;B	0.23852	0.049;0.024;0.046	T	0.36335	-0.9752	10	0.54805	T	0.06	.	5.3552	0.16057	0.4654:0.0:0.5346:0.0	.	729;729;729	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	K	729	ENSP00000430584:E729K;ENSP00000367372:E729K;ENSP00000431748:E729K	ENSP00000367372:E729K	E	+	1	0	PCDHA2	140156918	0.051000	0.20477	0.128000	0.21923	0.009000	0.06853	0.980000	0.29513	0.262000	0.21774	0.585000	0.79938	GAG	PCDHA2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000374265.2		+	ENST00000520672.2	Missense_Mutation	SNP	5 : 140176734 - 140176734 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	711	143
EIF2AK3	9451	broad.mit.edu	37	2	88890358	88890358	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88890358C>T	ENST00000303236.3	-	5	1281	c.980G>A	c.(979-981)gGa>gAa	p.G327E	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.G176E	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	327					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						TTCCAGATGTCCTCCCTTCTT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(138;671 1851 16235 39058 45249)							NA				0													164	151	155			NA	NA	2		NA											NA				88890358		2203	4300	6503	SO:0001583	missense			AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071	9451	9451			3255	protein-coding gene	gene with protein product		604032			NA	10026192, 10575235	Standard	NM_004836	NM_004836	NA	Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.980G>A	2.37:g.88890358C>T	ENSP00000307235:p.Gly327Glu	NA	A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	37	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.972414	0.34848	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.66995	-0.24;-0.24;-0.24	5.87	5.87	0.94306	Quinonprotein alcohol dehydrogenase-like (2);	0.049969	0.85682	D	0.000000	T	0.79793	0.4507	L	0.56396	1.775	0.54753	D	0.999985	D	0.89917	1.0	D	0.74348	0.983	T	0.74922	-0.3499	10	0.31617	T	0.26	-28.1707	20.2147	0.98293	0.0:1.0:0.0:0.0	.	327	Q9NZJ5	E2AK3_HUMAN	E	176;327;176;206	ENSP00000408325:G176E;ENSP00000307235:G327E;ENSP00000412076:G206E	ENSP00000307235:G327E	G	-	2	0	EIF2AK3	88671473	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.284000	0.58983	2.785000	0.95823	0.591000	0.81541	GGA	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000338233.2		-	ENST00000303236.3	Missense_Mutation	SNP	2 : 88890358 - 88890358 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	672	49
SYNE1	23345	broad.mit.edu	37	6	152737755	152737755	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152737755G>A	ENST00000367255.5	-	41	6418	c.5817C>T	c.(5815-5817)atC>atT	p.I1939I	SYNE1_ENST00000448038.1_Silent_p.I1946I|SYNE1_ENST00000423061.1_Silent_p.I1946I|SYNE1_ENST00000341594.5_Silent_p.I1976I|SYNE1_ENST00000265368.4_Silent_p.I1939I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1939					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGAGCTCCCGATTTTCAGAT	0.493		NA								HNSCC(10;0.0054)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	105	106			NA	NA	6		NA											NA				152737755		2203	4300	6503	SO:0001819	synonymous_variant			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018	23345	23345			17089	protein-coding gene	gene with protein product	myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1	608441	chromosome 6 open reading frame 98	C6orf98	NA	9872452, 10878022	Standard	NM_182961	NM_182961	NA	Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.5817C>T	6.37:g.152737755G>A		NA	O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	37	CCDS5236.2																																																																																			SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334755.2		-	ENST00000367255.5	Silent	SNP	6 : 152737755 - 152737755 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	464	89
FNBP1L	54874	broad.mit.edu	37	1	93998540	93998540	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93998540C>A	ENST00000370253.2	+	8	701	c.701C>A	c.(700-702)gCt>gAt	p.A234D	FNBP1L_ENST00000260506.8_Missense_Mutation_p.A234D|FNBP1L_ENST00000604705.1_Missense_Mutation_p.A234D|FNBP1L_ENST00000370256.4_Missense_Mutation_p.A234D|FNBP1L_ENST00000271234.7_Missense_Mutation_p.A234D			Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	234	Induction of membrane tubulation (By similarity).				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		AGAGGATTTGCTGACTCAGAA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	79	81			NA	NA	1		NA											NA				93998540		1849	4105	5954	SO:0001583	missense				CCDS53343.1, CCDS53344.1, CCDS60192.1	1p22.1	2008-02-05	2004-11-16	2004-11-17	ENSG00000137942	ENSG00000137942	54874	54874			20851	protein-coding gene	gene with protein product		608848	chromosome 1 open reading frame 39	C1orf39	NA	14654988	Standard	NM_017737	NM_017737	NA	Approved	TOCA1, FLJ20275	uc010otk.2	Q5T0N5	OTTHUMG00000010863	ENST00000370253.2:c.701C>A	1.37:g.93998540C>A	ENSP00000359275:p.Ala234Asp	NA	Q5T0N6|Q6B097|Q6P653|Q6R4Q4|Q9NXG1	37		.	.	.	.	.	.	.	.	.	.	C	32	5.115424	0.94339	.	.	ENSG00000137942	ENST00000370256;ENST00000271234;ENST00000260506;ENST00000370253;ENST00000424449	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.43433	0.1247	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.994	D;D;P	0.87578	0.997;0.998;0.82	T	0.37150	-0.9718	10	0.72032	D	0.01	-25.113	19.8206	0.96591	0.0:1.0:0.0:0.0	.	54;234;234	B4DSI7;Q5T0N5-4;Q5T0N5-3	.;.;.	D	234;234;234;234;101	ENSP00000359278:A234D;ENSP00000271234:A234D;ENSP00000260506:A234D;ENSP00000359275:A234D	ENSP00000260506:A234D	A	+	2	0	FNBP1L	93771128	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.252000	0.78309	2.686000	0.91538	0.591000	0.81541	GCT	FNBP1L-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000029979.2		+	ENST00000370253.2	Missense_Mutation	SNP	1 : 93998540 - 93998540 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	168	17
ESRRA	2101	broad.mit.edu	37	11	64082498	64082498	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64082498C>T	ENST00000405666.1	+	6	1002	c.768C>T	c.(766-768)gaC>gaT	p.D256D	ESRRA_ENST00000406310.1_Silent_p.D255D|ESRRA_ENST00000000442.6_Silent_p.D256D	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	256	Ligand binding domain.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CGCTGTCTGACCAGATGTCAG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	14	14			NA	NA	11		NA											NA				64082498		2086	4214	6300	SO:0001819	synonymous_variant			X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153	2101	2101		Nuclear hormone receptors	3471	protein-coding gene	gene with protein product		601998		ESRL1	NA	3267207	Standard	NM_004451	NM_004451	NA	Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.768C>T	11.37:g.64082498C>T		NA	Q14514	37	CCDS41667.1	.	.	.	.	.	.	.	.	.	.	C	6.221	0.408958	0.11812	.	.	ENSG00000173153	ENST00000545035	.	.	.	4.14	1.23	0.21249	.	.	.	.	.	T	0.54886	0.1886	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47381	-0.9122	4	.	.	.	.	7.5808	0.27963	0.0:0.6945:0.0:0.3055	.	.	.	.	I	37	.	.	T	+	2	0	ESRRA	63839074	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.594000	0.36697	0.512000	0.28257	0.462000	0.41574	ACC	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319304.1		+	ENST00000405666.1	Silent	SNP	11 : 64082498 - 64082498 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	82	6
PTOV1	53635	broad.mit.edu	37	19	50358292	50358292	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50358292C>T	ENST00000601675.1	+	5	620	c.516C>T	c.(514-516)tgC>tgT	p.C172C	PTOV1_ENST00000391842.1_Silent_p.C172C|PTOV1_ENST00000600603.1_Silent_p.C140C|PTOV1_ENST00000601638.1_Silent_p.C140C|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000221557.9_Silent_p.C140C|PTOV1_ENST00000599732.1_Silent_p.C172C			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		ACAGAGACTGCGACTCGCTCA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	35	37			NA	NA	19		NA											NA				50358292		2202	4300	6502	SO:0001819	synonymous_variant			AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960	53635	53635			9632	protein-coding gene	gene with protein product		610195			NA	12598323, 15713644	Standard	NM_017432	XM_005258998	NA	Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.516C>T	19.37:g.50358292C>T		NA	Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	37	CCDS12782.1																																																																																			PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465347.1		+	ENST00000601675.1	Silent	SNP	19 : 50358292 - 50358292 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	56	8
TEX15	56154	broad.mit.edu	37	8	30701930	30701930	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30701930G>A	ENST00000256246.2	-	1	4678	c.4604C>T	c.(4603-4605)cCg>cTg	p.P1535L		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1535										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTGTTAAGCGGATTAGAAAC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	184	182			NA	NA	8		NA											NA				30701930		2203	4300	6503	SO:0001583	missense			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863	56154	56154			11738	protein-coding gene	gene with protein product	cancer/testis antigen 42	605795	testis expressed sequence 15		NA	11279525	Standard		NM_031271	NA	Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.4604C>T	8.37:g.30701930G>A	ENSP00000256246:p.Pro1535Leu	NA		37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	5.831	0.337538	0.11013	.	.	ENSG00000133863	ENST00000256246	T	0.09445	2.98	5.77	-1.07	0.09968	.	1.103820	0.06875	N	0.801452	T	0.05777	0.0151	N	0.14661	0.345	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.41858	-0.9485	10	0.87932	D	0	.	1.8159	0.03100	0.123:0.1577:0.349:0.3703	.	1535	Q9BXT5	TEX15_HUMAN	L	1535	ENSP00000256246:P1535L	ENSP00000256246:P1535L	P	-	2	0	TEX15	30821472	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.141000	0.10327	-0.405000	0.07599	-1.085000	0.02201	CCG	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376193.1		-	ENST00000256246.2	Missense_Mutation	SNP	8 : 30701930 - 30701930 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1250	210
MIS18A	54069	broad.mit.edu	37	21	33651204	33651204	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:33651204C>T	ENST00000290130.3	-	1	176	c.122G>A	c.(121-123)cGc>cAc	p.R41H	MIS18A-AS1_ENST00000453549.1_RNA	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN	MIS18 kinetochore protein A	41					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						CAGCTGGTGGCGGCTCGAGTC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	24	24			NA	NA	21		NA											NA				33651204		2202	4298	6500	SO:0001583	missense			AF231921	CCDS13611.1	21q22.11	2013-10-21	2013-10-21	2011-02-23	ENSG00000159055	ENSG00000159055	54069	54069			1286	protein-coding gene	gene with protein product			chromosome 21 open reading frame 46, chromosome 21 open reading frame 45, MIS18 kinetochore protein homolog A (S. pombe)	C21orf46, C21orf45	NA	17199038	Standard	NM_018944	NM_018944	NA	Approved	B28, FASP1, hMis18alpha	uc002ypi.3	Q9NYP9	OTTHUMG00000085308	ENST00000290130.3:c.122G>A	21.37:g.33651204C>T	ENSP00000290130:p.Arg41His	NA	B2R562|Q542Z0	37	CCDS13611.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.912422	0.92178	.	.	ENSG00000159055	ENST00000290130	.	.	.	4.81	3.92	0.45320	.	0.247232	0.32868	N	0.005558	T	0.41766	0.1173	L	0.57536	1.79	0.31136	N	0.707187	B	0.31100	0.308	B	0.26202	0.067	T	0.54289	-0.8316	9	0.72032	D	0.01	-17.5797	10.3483	0.43920	0.0:0.9076:0.0:0.0924	.	41	Q9NYP9	MS18A_HUMAN	H	41	.	ENSP00000290130:R41H	R	-	2	0	MIS18A	32573075	0.437000	0.25593	0.967000	0.41034	0.973000	0.67179	0.727000	0.25999	1.384000	0.46424	0.650000	0.86243	CGC	MIS18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000193090.1		-	ENST00000290130.3	Missense_Mutation	SNP	21 : 33651204 - 33651204 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	201	22
CUX1	1523	broad.mit.edu	37	7	101921318	101921318	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101921318G>A	ENST00000560541.1	+	0	2250				CUX1_ENST00000292538.4_Silent_p.L554L|CUX1_ENST00000547394.2_Silent_p.L538L|CUX1_ENST00000425244.2_Silent_p.L508L|CUX1_ENST00000393824.3_Silent_p.L515L|CUX1_ENST00000437600.4_Silent_p.L552L			P39880	CUX1_HUMAN	cut-like homeobox 1	NA					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TCAAGTTCCTGCAGAGCTACC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	34	36			NA	NA	7		NA											NA				101921318		2203	4299	6502	SO:0001624	3_prime_UTR_variant			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923	1523	1523		Homeoboxes / CUT class	2557	protein-coding gene	gene with protein product	golgi integral membrane protein 6	116896	cut (Drosophila)-like 1 (CCAAT displacement protein), cut-like 1, CCAAT displacement protein (Drosophila)	CUTL1	NA	8468066, 9799793, 15004235	Standard	NM_001913	NM_001202543	NA	Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000560541.1:c.*2247G>A	7.37:g.101921318G>A		NA	Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	37																																																																																				CUX1-019	KNOWN	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000418419.1		+	ENST00000560541.1	3'UTR	SNP	7 : 101921318 - 101921318 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	134	16
AOC2	314	broad.mit.edu	37	17	40997013	40997013	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40997013G>A	ENST00000253799.3	+	1	397	c.370G>A	c.(370-372)Gtc>Atc	p.V124I	AOC2_ENST00000452774.2_Missense_Mutation_p.V124I	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	124					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		ACTGGCCATCGTCCTCTTTGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	32	32			NA	NA	17		NA											NA				40997013		2203	4299	6502	SO:0001583	missense			AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	314	314	1.4.3.21		549	protein-coding gene	gene with protein product		602268			NA	9119395, 9722954	Standard	NM_009590, NM_001158	NM_001158	NA	Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.370G>A	17.37:g.40997013G>A	ENSP00000253799:p.Val124Ile	NA	A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	37	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	G	0.152	-1.090357	0.01873	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.35789	1.29;1.29	5.01	2.57	0.30868	Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);Copper amine oxidase, N2-terminal (1);	0.221172	0.37136	N	0.002238	T	0.14184	0.0343	N	0.05510	-0.035	0.40249	D	0.978047	B;B	0.28820	0.076;0.224	B;B	0.23574	0.03;0.047	T	0.09907	-1.0653	10	0.10902	T	0.67	-53.025	6.7767	0.23624	0.2025:0.1471:0.6504:0.0	.	124;124	O75106;O75106-2	AOC2_HUMAN;.	I	124	ENSP00000253799:V124I;ENSP00000406134:V124I	ENSP00000253799:V124I	V	+	1	0	AOC2	38250539	1.000000	0.71417	0.996000	0.52242	0.041000	0.13682	1.953000	0.40352	0.448000	0.26722	-0.253000	0.11424	GTC	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452442.1		+	ENST00000253799.3	Missense_Mutation	SNP	17 : 40997013 - 40997013 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	428	96
ITGA1	3672	broad.mit.edu	37	5	52214572	52214572	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52214572G>A	ENST00000282588.6	+	16	2457	c.1999G>A	c.(1999-2001)Gtg>Atg	p.V667M		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	667					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GTCCCGAGATGTGGCCGTAGT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	104	109			NA	NA	5		NA											NA				52214572		2203	4299	6502	SO:0001583	missense			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949	3672	3672		CD molecules, Integrins	6134	protein-coding gene	gene with protein product		192968			NA	8428973, 11937138	Standard	NM_181501	NM_181501	NA	Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.1999G>A	5.37:g.52214572G>A	ENSP00000282588:p.Val667Met	NA	B2RNU0	37	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879359	0.91740	.	.	ENSG00000213949	ENST00000282588	D	0.82893	-1.66	5.51	5.51	0.81932	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	D	0.88665	0.6498	L	0.43923	1.385	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	D	0.89183	0.3545	10	0.87932	D	0	.	19.7837	0.96428	0.0:0.0:1.0:0.0	.	667	P56199	ITA1_HUMAN	M	667	ENSP00000282588:V667M	ENSP00000282588:V667M	V	+	1	0	ITGA1	52250329	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.973000	0.76116	2.738000	0.93877	0.655000	0.94253	GTG	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253855.3		+	ENST00000282588.6	Missense_Mutation	SNP	5 : 52214572 - 52214572 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	13
ARHGEF4	50649	broad.mit.edu	37	2	131797660	131797660	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131797660C>T	ENST00000392953.3	+	7	1338	c.819C>T	c.(817-819)ggC>ggT	p.G273G	ARHGEF4_ENST00000326016.5_Silent_p.G273G|ARHGEF4_ENST00000355771.3_Silent_p.G202G|ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000525839.1_Silent_p.G273G|ARHGEF4_ENST00000409303.1_Silent_p.G273G	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	273					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CGGAGGACGGCGGGGCGGAGG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	48	48			NA	NA	2		NA											NA				131797660		2201	4299	6500	SO:0001819	synonymous_variant			AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002	50649	50649		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	684	protein-coding gene	gene with protein product	APC-stimulated guanine nucleotide exchange factor	605216			NA	10873612	Standard		NM_015320	NA	Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000392953.3:c.819C>T	2.37:g.131797660C>T		NA	Q9HDC6|Q9UPP0	37	CCDS42754.1																																																																																			ARHGEF4-201	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding			+	ENST00000392953.3	Silent	SNP	2 : 131797660 - 131797660 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	115	38
PPARGC1B	133522	broad.mit.edu	37	5	149216066	149216066	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149216066G>A	ENST00000309241.5	+	8	2080	c.2048G>A	c.(2047-2049)cGt>cAt	p.R683H	PPARGC1B_ENST00000360453.4_Missense_Mutation_p.R644H|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.R683H|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.R619H	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	683					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGCCAGAAGCGTCCCTTCTCC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	50	54	53		1931,1856,2048	4.5	1	5		53	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	PPARGC1B	NM_001172698.1,NM_001172699.1,NM_133263.3	29,29,29	0,1,6501	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	644/985,619/960,683/1024	149216066	1,13003	2203	4299	6502	SO:0001583	missense			AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846	133522	133522		RNA binding motif (RRM) containing	30022	protein-coding gene	gene with protein product		608886	peroxisome proliferative activated receptor, gamma, coactivator 1, beta		NA	11793024, 11854298	Standard	NM_133263	NM_133263	NA	Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2048G>A	5.37:g.149216066G>A	ENSP00000312649:p.Arg683His	NA	A2RUM8|A2RUN0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	37	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443480	0.43429	0.0	1.16E-4	ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	T;T;T;T	0.21361	2.03;2.01;2.05;2.02	4.47	4.47	0.54385	.	0.193702	0.33161	N	0.005210	T	0.22820	0.0551	L	0.58101	1.795	0.37255	D	0.906726	P;B;P;B;P	0.39737	0.685;0.212;0.685;0.414;0.685	B;B;B;B;B	0.32724	0.14;0.042;0.14;0.066;0.151	T	0.36480	-0.9746	10	0.87932	D	0	-17.9009	17.5766	0.87952	0.0:0.0:1.0:0.0	.	662;662;644;683;683	Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3	.;.;.;PRGC2_HUMAN;.	H	644;683;683;619	ENSP00000353638:R644H;ENSP00000377855:R683H;ENSP00000312649:R683H;ENSP00000384403:R619H	ENSP00000312649:R683H	R	+	2	0	PPARGC1B	149196259	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.689000	0.74562	2.212000	0.71576	0.456000	0.33151	CGT	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252334.1		+	ENST00000309241.5	Missense_Mutation	SNP	5 : 149216066 - 149216066 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	568	84
NPRL3	8131	broad.mit.edu	37	16	136767	136767	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:136767G>A	ENST00000405960.3	-	0	1931				NPRL3_ENST00000399951.3_Silent_p.S369S|NPRL3_ENST00000399953.3_Silent_p.S548S			Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	NA							protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						CCACCAGCACGCTGCGGAACT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	50	47			NA	NA	16		NA											NA				136767		2128	4233	6361	SO:0001623	5_prime_UTR_variant				CCDS73794.1, CCDS73795.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000103148	ENSG00000103148	8131	8131			14124	protein-coding gene	gene with protein product	conserved gene telomeric to alpha globin cluster	600928	chromosome 16 open reading frame 35	C16orf35	NA	8575760	Standard	NM_001039476	NM_001243247	NA	Approved	CGTHBA, RMD11, NPR3, MARE, HS-40	uc002cfr.3	Q12980	OTTHUMG00000047792	ENST00000405960.3:c.-949C>T	16.37:g.136767G>A		NA	D3DU40|Q1W6H0|Q4TT56|Q92469	37																																																																																				NPRL3-015	KNOWN	basic	processed_transcript	NA	protein_coding	OTTHUMT00000467385.1		-	ENST00000405960.3	5'UTR	SNP	16 : 136767 - 136767 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	50	14
DCT	1638	broad.mit.edu	37	13	95131483	95131483	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95131483C>T	ENST00000377028.5	-	1	440	c.27G>A	c.(25-27)ctG>ctA	p.L9L	DCT_ENST00000446125.1_Silent_p.L9L	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	9					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AGCAACTGAGCAGAAACCCCC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	25	25			NA	NA	13		NA											NA				95131483		2203	4299	6502	SO:0001819	synonymous_variant			D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	1638	1638	5.3.3.12		2709	protein-coding gene	gene with protein product	dopachrome delta-isomerase	191275	tyrosine-related protein 2	TYRP2	NA	8306979	Standard		NM_001922	NA	Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.27G>A	13.37:g.95131483C>T		NA		37	CCDS9470.1																																																																																			DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045461.3		-	ENST00000377028.5	Silent	SNP	13 : 95131483 - 95131483 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	184	32
EGFLAM	133584	broad.mit.edu	37	5	38407154	38407154	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38407154C>A	ENST00000322350.5	+	8	1399	c.1053C>A	c.(1051-1053)ctC>ctA	p.L351L	EGFLAM_ENST00000354891.3_Silent_p.L351L|EGFLAM_ENST00000336740.6_Silent_p.L117L|EGFLAM_ENST00000397202.2_Intron	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	351	EGF-like 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ATGAAACTCTCTGCTCTGCTG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(62;485 1295 3347 17454)							NA				0													111	105	107			NA	NA	5		NA											NA				38407154		2203	4300	6503	SO:0001819	synonymous_variant			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318	133584	133584		Fibronectin type III domain containing	26810	protein-coding gene	gene with protein product	pikachurin, agrin-like				NA	18641643, 20078962, 22760553	Standard	NM_152403	NM_182801	NA	Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000322350.5:c.1053C>A	5.37:g.38407154C>A		NA	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	37	CCDS3924.1																																																																																			EGFLAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253824.1		+	ENST00000322350.5	Silent	SNP	5 : 38407154 - 38407154 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	341	14
IGSF1	3547	broad.mit.edu	37	X	130412536	130412536	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:130412536A>C	ENST00000370904.1	-	18	2823	c.1913T>G	c.(1912-1914)cTt>cGt	p.L638R	IGSF1_ENST00000370910.1_Missense_Mutation_p.L638R|IGSF1_ENST00000361420.3_Missense_Mutation_p.L647R|IGSF1_ENST00000370903.3_Missense_Mutation_p.L652R			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	647	Ig-like C2-type 6.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CAGGGCGCCAAGGGGGAAGGC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	55	55			NA	NA	X		NA											NA				130412536		2203	4300	6503	SO:0001583	missense			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255	3547	3547		Immunoglobulin superfamily / Immunoglobulin-like domain containing	5948	protein-coding gene	gene with protein product		300137			NA	9521868, 9729118	Standard		NM_001555	NA	Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000370904.1:c.1913T>G	X.37:g.130412536A>C	ENSP00000359941:p.Leu638Arg	NA	B5MEG2|O15070|Q9NTC8	37	CCDS55490.1	.	.	.	.	.	.	.	.	.	.	a	17.30	3.354157	0.61293	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.01092	5.35;5.35;5.35;5.35	5.09	5.09	0.68999	Immunoglobulin-like fold (1);	0.000000	0.34853	N	0.003622	T	0.06050	0.0157	M	0.78285	2.405	0.32560	N	0.531231	P;D;D	0.71674	0.672;0.998;0.97	P;D;P	0.74023	0.758;0.982;0.857	T	0.01993	-1.1233	10	0.87932	D	0	.	10.4656	0.44604	1.0:0.0:0.0:0.0	.	638;91;647	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	R	638;647;638;652	ENSP00000359947:L638R;ENSP00000355010:L647R;ENSP00000359941:L638R;ENSP00000359940:L652R	ENSP00000355010:L647R	L	-	2	0	IGSF1	130240217	0.999000	0.42202	1.000000	0.80357	0.984000	0.73092	4.481000	0.60250	1.810000	0.52873	0.483000	0.47432	CTT	IGSF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058286.1		-	ENST00000370904.1	Missense_Mutation	SNP	X : 130412536 - 130412536 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	398	135
ELAVL4	1996	broad.mit.edu	37	1	50663102	50663102	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:50663102C>A	ENST00000371824.1	+	6	993	c.736C>A	c.(736-738)Ctg>Atg	p.L246M	ELAVL4_ENST00000357083.4_Splice_Site_p.L263M|ELAVL4_ENST00000371819.1_Splice_Site_p.L251M|ELAVL4_ENST00000371821.1_Splice_Site_p.L251M|ELAVL4_ENST00000371823.4_Splice_Site_p.L246M|ELAVL4_ENST00000448907.2_Splice_Site_p.L249M|ELAVL4_ENST00000371827.1_Splice_Site_p.L246M			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	246					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TCTTTGCAGGCTGGACAATTT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	152	151			NA	NA	1		NA											NA				50663102		2203	4300	6503	SO:0001630	splice_region_variant			AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374	1996	1996		RNA binding motif (RRM) containing	3315	protein-coding gene	gene with protein product	Hu antigen D	168360	ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D), ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4	HUD	NA	8222755	Standard	NM_021952	XM_005270581	NA	Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371824.1:c.735-1C>A	1.37:g.50663102C>A		NA	B1APY6|B1APY7|Q8IYD4|Q96J74|Q96J75|Q9UD24	37	CCDS44140.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056865	0.76074	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.09630	3.01;3.0;2.98;2.99;2.99;2.96;2.99	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000001	T	0.23094	0.0558	L	0.47716	1.5	0.80722	D	1	P;D;P;P;P;P;P	0.54397	0.748;0.966;0.824;0.836;0.905;0.837;0.748	B;P;P;B;P;P;B	0.55999	0.326;0.702;0.789;0.326;0.693;0.525;0.326	T	0.00053	-1.2186	10	0.31617	T	0.26	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	251;251;246;246;263;246;249	B1APY9;B1APY8;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;.;ELAV4_HUMAN;.;.;.	M	249;246;263;246;246;251;251	ENSP00000399939:L249M;ENSP00000360892:L246M;ENSP00000349594:L263M;ENSP00000360889:L246M;ENSP00000360888:L246M;ENSP00000360886:L251M;ENSP00000360884:L251M	ENSP00000349594:L263M	L	+	1	2	ELAVL4	50435689	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.273000	0.78527	2.941000	0.99782	0.655000	0.94253	CTG	ELAVL4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021711.1	Missense_Mutation	+	ENST00000371824.1	Splice_Site	SNP	1 : 50663102 - 50663102 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	568	53
SEL1L2	80343	broad.mit.edu	37	20	13971165	13971165	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13971165G>A	ENST00000284951.5	-	1	90	c.16C>T	c.(16-18)Ctg>Ttg	p.L6L	SEL1L2_ENST00000378072.5_Silent_p.L6L|SEL1L2_ENST00000486903.1_Intron			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	6						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TCTATTAACAGAGACAAGGGC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	95	97			NA	NA	20		NA											NA				13971165		1859	4105	5964	SO:0001819	synonymous_variant			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251	80343	80343			15897	protein-coding gene	gene with protein product		614289	chromosome 20 open reading frame 50	C20orf50	NA		Standard	NM_025229	NM_001271539	NA	Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.16C>T	20.37:g.13971165G>A		NA		37																																																																																				SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000078067.3		-	ENST00000284951.5	Silent	SNP	20 : 13971165 - 13971165 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	70
RPAP1	26015	broad.mit.edu	37	15	41814317	41814317	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41814317T>C	ENST00000561603.1	-	20	2988	c.2874A>G	c.(2872-2874)gcA>gcG	p.A958A	RPAP1_ENST00000304330.4_Silent_p.A958A			Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	958	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCAGAGCGAGTGCCAGGTACT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	82	82			NA	NA	15		NA											NA				41814317		2203	4300	6503	SO:0001819	synonymous_variant			BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932	26015	26015			24567	protein-coding gene	gene with protein product		611475			NA	10718198	Standard	NM_015540	XM_005254297	NA	Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000561603.1:c.2874A>G	15.37:g.41814317T>C		NA	Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	37																																																																																				RPAP1-004	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000420208.1		-	ENST00000561603.1	Silent	SNP	15 : 41814317 - 41814317 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	513	101
SCNN1A	6337	broad.mit.edu	37	12	6457894	6457894	+	Splice_Site	SNP	G	G	A	rs72657549		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6457894G>A	ENST00000543768.1	-	12	1789	c.1697C>T	c.(1696-1698)aCg>aTg	p.T566M	SCNN1A_ENST00000360168.3_Splice_Site_p.T602M|SCNN1A_ENST00000228916.2_Splice_Site_p.T543M|SCNN1A_ENST00000358945.3_Splice_Site_p.T565M|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000540037.1_Splice_Site_p.T243M	NM_001159575.1	NP_001153047.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	543					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	ACGACCTACCGTGACAGAGGG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	117	122			NA	NA	12		NA											NA				6457894		2203	4300	6503	SO:0001630	splice_region_variant			Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319	NA	6337		Ion channels / Sodium channel, nonvoltage-gated, Sodium channels	10599	protein-coding gene	gene with protein product		600228	sodium channel, nonvoltage-gated 1 alpha, sodium channel, non-voltage-gated 1 alpha	SCNN1	NA	7896277	Standard		NM_001038	NA	Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000543768.1:c.1698+1C>T	12.37:g.6457894G>A		NA	A5X2U9|C5HTZ0|O43271|Q6GSQ6|Q9UM64	37	CCDS53739.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.540820	0.65085	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000540037;ENST00000228916;ENST00000543768	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.0	5.0	0.66597	.	0.087235	0.49305	D	0.000157	T	0.79275	0.4418	M	0.85299	2.745	0.46631	D	0.999132	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75484	0.986;0.959;0.954	T	0.82234	-0.0558	10	0.87932	D	0	-21.3724	10.9631	0.47397	0.0:0.0:0.8132:0.1868	.	566;543;602	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	M	602;565;243;543;566	ENSP00000353292:T602M;ENSP00000351825:T565M;ENSP00000440876:T243M;ENSP00000228916:T543M;ENSP00000438739:T566M	ENSP00000228916:T543M	T	-	2	0	SCNN1A	6328155	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	4.608000	0.61141	2.331000	0.79229	0.591000	0.81541	ACG	SCNN1A-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399058.1	Missense_Mutation	-	ENST00000543768.1	Splice_Site	SNP	12 : 6457894 - 6457894 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	410	47
GLE1	2733	broad.mit.edu	37	9	131298700	131298700	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131298700A>G	ENST00000309971.4	+	12	1819	c.1713A>G	c.(1711-1713)tcA>tcG	p.S571S	RP11-216B9.6_ENST00000434999.1_RNA|GLE1_ENST00000539582.1_Silent_p.S317S|GLE1_ENST00000372770.4_Silent_p.S571S	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	571					poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						AACGCATGTCAGGGATGATCC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	103	111			NA	NA	9		NA											NA				131298700		2203	4300	6503	SO:0001819	synonymous_variant			AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392	2733	2733			4315	protein-coding gene	gene with protein product		603371	GLE1 (yeast homolog)-like, RNA export mediator, GLE1 RNA export mediator-like (yeast), GLE1 RNA export mediator (yeast), lethal congenital contracture syndrome 1, GLE1 RNA export mediator homolog (yeast)	GLE1L, LCCS1	NA	9618489, 18204449	Standard	NM_001003722	NM_001499	NA	Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.1713A>G	9.37:g.131298700A>G		NA	O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	37	CCDS35154.1																																																																																			GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054456.1		+	ENST00000309971.4	Silent	SNP	9 : 131298700 - 131298700 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	269	10
RTN4	57142	broad.mit.edu	37	2	55253303	55253303	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55253303A>G	ENST00000337526.6	-	3	2175	c.1932T>C	c.(1930-1932)gtT>gtC	p.V644V	RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000404909.1_Silent_p.V438V|RTN4_ENST00000394611.2_Silent_p.V438V|RTN4_ENST00000357376.3_Silent_p.V438V|RTN4_ENST00000354474.6_Silent_p.V412V|RTN4_ENST00000405240.1_Silent_p.V438V	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	644					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TTTCATAATTAACTGAAGAAG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	35	34			NA	NA	2		NA											NA				55253303		2203	4300	6503	SO:0001819	synonymous_variant			AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310	57142	57142			14085	protein-coding gene	gene with protein product		604475			NA	10667797, 10773680	Standard		NM_020532	NA	Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.1932T>C	2.37:g.55253303A>G		NA	O94962|Q7L7Q8|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	37	CCDS42684.1																																																																																			RTN4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251484.1		-	ENST00000337526.6	Silent	SNP	2 : 55253303 - 55253303 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	207	38
PCDHB15	56121	broad.mit.edu	37	5	140627157	140627157	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140627157C>A	ENST00000231173.3	+	1	2011	c.2011C>A	c.(2011-2013)Ctg>Atg	p.L671M		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	671	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAGCCCTACCTGCCGCTCCC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	58	56			NA	NA	5		NA											NA				140627157		2195	4276	6471	SO:0001583	missense			AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248	56121	56121		Cadherins / Protocadherins : Clustered	8686	other	protocadherin		606341			NA	10380929	Standard	NM_018935	NM_018935	NA	Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.2011C>A	5.37:g.140627157C>A	ENSP00000231173:p.Leu671Met	NA	Q8IUX5	37	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058930	0.36277	.	.	ENSG00000113248	ENST00000231173	T	0.52526	0.66	4.58	2.62	0.31277	Cadherin (1);	.	.	.	.	T	0.52885	0.1762	L	0.58583	1.82	0.28329	N	0.921895	D	0.58970	0.984	P	0.55667	0.781	T	0.46345	-0.9198	9	0.59425	D	0.04	.	5.9376	0.19175	0.0:0.6574:0.1841:0.1585	.	671	Q9Y5E8	PCDBF_HUMAN	M	671	ENSP00000231173:L671M	ENSP00000231173:L671M	L	+	1	2	PCDHB15	140607341	0.184000	0.23200	0.998000	0.56505	0.505000	0.33919	-0.072000	0.11486	2.293000	0.77203	0.549000	0.68633	CTG	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251804.2		+	ENST00000231173.3	Missense_Mutation	SNP	5 : 140627157 - 140627157 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	905	84
SPTLC2	9517	broad.mit.edu	37	14	78063618	78063618	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78063618C>T	ENST00000216484.2	-	2	431	c.238G>A	c.(238-240)Gta>Ata	p.V80I		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	80						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AGGGTGAGTACGCCATACCCC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	111	117			NA	NA	14		NA											NA				78063618		2203	4300	6503	SO:0001583	missense			AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	9517	9517	2.3.1.50		11278	protein-coding gene	gene with protein product		605713			NA	8921873, 9363775	Standard	NM_004863	NM_004863	NA	Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.238G>A	14.37:g.78063618C>T	ENSP00000216484:p.Val80Ile	NA	Q16685	37	CCDS9865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.663|4.663	0.123259|0.123259	0.08931|0.08931	.|.	.|.	ENSG00000100596|ENSG00000100596	ENST00000554901|ENST00000216484	.|T	.|0.69806	.|-0.43	4.88|4.88	4.88|4.88	0.63580|0.63580	.|.	.|0.127042	.|0.53938	.|D	.|0.000048	T|T	0.29817|0.29817	0.0745|0.0745	N|N	0.00926|0.00926	-1.1|-1.1	0.42181|0.42181	D|D	0.991685|0.991685	.|B	.|0.09022	.|0.002	.|B	.|0.06405	.|0.002	T|T	0.42413|0.42413	-0.9453|-0.9453	5|10	.|0.02654	.|T	.|1	-16.3828|-16.3828	9.2779|9.2779	0.37711|0.37711	0.0:0.8383:0.0:0.1617|0.0:0.8383:0.0:0.1617	.|.	.|80	.|O15270	.|SPTC2_HUMAN	H|I	16|80	.|ENSP00000216484:V80I	.|ENSP00000216484:V80I	R|V	-|-	2|1	0|0	SPTLC2|SPTLC2	77133371|77133371	1.000000|1.000000	0.71417|0.71417	0.699000|0.699000	0.30290|0.30290	0.994000|0.994000	0.84299|0.84299	3.820000|3.820000	0.55693|0.55693	2.412000|2.412000	0.81896|0.81896	0.591000|0.591000	0.81541|0.81541	CGT|GTA	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414030.1		-	ENST00000216484.2	Missense_Mutation	SNP	14 : 78063618 - 78063618 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	273	61
FMN1	342184	broad.mit.edu	37	15	33261570	33261570	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33261570G>A	ENST00000559047.1	-	5	2331	c.2332C>T	c.(2332-2334)Cga>Tga	p.R778*	FMN1_ENST00000334528.9_Nonsense_Mutation_p.R555*|FMN1_ENST00000561249.1_Nonsense_Mutation_p.R680*			Q68DA7	FMN1_HUMAN	formin 1	778	Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CAACCCCCTCGCCATCTGTGT	0.483		NA											G	1	5e-04	NA	NA	2184	NA	0.9998	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.8457	EXOME	NA	NA	8e-04	SNP								NA				0													245	229	234			NA	NA	15		NA											NA				33261570		1958	4161	6119	SO:0001587	stop_gained			AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905	342184	342184			3768	protein-coding gene	gene with protein product	limb deformity protein	136535	formin (limb deformity)	LD, FMN	NA	1673046	Standard	NM_001103184	NM_001277313	NA	Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2332C>T	15.37:g.33261570G>A	ENSP00000454047:p.Arg778*	NA	Q3B7I6|Q3ZAR4|Q6ZSY1	37		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	25.7	4.662893	0.88251	.	.	ENSG00000248905	ENST00000334528	.	.	.	4.51	3.52	0.40303	.	0.305463	0.34133	N	0.004233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.6005	0.17351	0.1035:0.0:0.5508:0.3457	.	.	.	.	X	555	.	ENSP00000333950:R555X	R	-	1	2	FMN1	31048862	0.010000	0.17322	0.799000	0.32177	0.098000	0.18820	0.546000	0.23284	2.339000	0.79563	0.555000	0.69702	CGA	FMN1-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000417414.1		-	ENST00000559047.1	Nonsense_Mutation	SNP	15 : 33261570 - 33261570 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1266	243
PRDM5	11107	broad.mit.edu	37	4	121739544	121739544	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:121739544C>T	ENST00000264808.3	-	5	854	c.614G>A	c.(613-615)gGg>gAg	p.G205E	PRDM5_ENST00000515109.1_Missense_Mutation_p.G205E|PRDM5_ENST00000428209.2_Missense_Mutation_p.G205E	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	205					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GAATTTCTTCCCACAGTTCTT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	88	89			NA	NA	4		NA											NA				121739544		2203	4300	6503	SO:0001583	missense			AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738	11107	11107		Zinc fingers, C2H2-type	9349	protein-coding gene	gene with protein product		614161			NA		Standard		XM_005262706	NA	Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.614G>A	4.37:g.121739544C>T	ENSP00000264808:p.Gly205Glu	NA	Q0VAJ0|Q6NXQ7	37	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876634	0.91664	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209	T;T;T	0.59224	0.28;0.28;0.28	5.32	5.32	0.75619	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	0.70185	0.3195	L	0.39467	1.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.70952	-0.4732	10	0.52906	T	0.07	-30.627	19.0126	0.92879	0.0:1.0:0.0:0.0	.	205;205;205	Q0VAI9;Q9NQX1-2;Q9NQX1	.;.;PRDM5_HUMAN	E	205	ENSP00000264808:G205E;ENSP00000422309:G205E;ENSP00000404832:G205E	ENSP00000264808:G205E	G	-	2	0	PRDM5	121958994	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.562000	0.60816	2.498000	0.84270	0.555000	0.69702	GGG	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256528.2		-	ENST00000264808.3	Missense_Mutation	SNP	4 : 121739544 - 121739544 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	271	56
CALCR	799	broad.mit.edu	37	7	93106930	93106930	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:93106930G>A	ENST00000421592.1	-	5	544	c.256C>T	c.(256-258)Ccg>Tcg	p.P86S	CALCR_ENST00000394441.1_Missense_Mutation_p.P86S|CALCR_ENST00000426151.1_Missense_Mutation_p.P86S|CALCR_ENST00000360249.4_Missense_Mutation_p.P86S|CALCR_ENST00000359558.2_Missense_Mutation_p.P104S			P30988	CALCR_HUMAN	calcitonin receptor	86					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	ACTCCAGCCGGTGTGTCATCC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	79	83			NA	NA	7		NA											NA				93106930		2203	4300	6503	SO:0001583	missense			L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948	799	799		GPCR / Class B : Calcitonin receptors	1440	protein-coding gene	gene with protein product		114131			NA	1331173	Standard	NM_001742	NM_001742	NA	Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000421592.1:c.256C>T	7.37:g.93106930G>A	ENSP00000399552:p.Pro86Ser	NA	O14585|Q13941|Q6DJU8|Q6T712	37		.	.	.	.	.	.	.	.	.	.	G	21.2	4.113971	0.77210	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000535783;ENST00000394441;ENST00000426151	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	4.06	4.06	0.47325	.	.	.	.	.	T	0.64204	0.2577	L	0.39147	1.195	0.80722	D	1	P;P	0.42649	0.537;0.786	B;P	0.51297	0.236;0.665	T	0.60068	-0.7335	9	0.27785	T	0.31	.	16.1994	0.82060	0.0:0.0:1.0:0.0	.	104;86	F5H605;A4D1G6	.;.	S	104;86;86;86;86;86	ENSP00000352561:P104S;ENSP00000353385:P86S;ENSP00000399552:P86S;ENSP00000377959:P86S;ENSP00000389295:P86S	ENSP00000352561:P104S	P	-	1	0	CALCR	92944866	1.000000	0.71417	0.877000	0.34402	0.658000	0.38924	5.934000	0.70138	2.544000	0.85801	0.557000	0.71058	CCG	CALCR-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000341741.1		-	ENST00000421592.1	Missense_Mutation	SNP	7 : 93106930 - 93106930 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	203	46
RAP1B	5908	broad.mit.edu	37	12	69050899	69050899	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69050899C>T	ENST00000250559.9	+	7	718	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	RAP1B_ENST00000450214.2_Missense_Mutation_p.R121W|RAP1B_ENST00000543393.1_Missense_Mutation_p.R97W|RAP1B_ENST00000393436.5_Missense_Mutation_p.R163W|RAP1B_ENST00000539091.1_Missense_Mutation_p.R121W|RAP1B_ENST00000341355.5_Missense_Mutation_p.R163W|RAP1B_ENST00000537460.1_Missense_Mutation_p.R163W|RAP1B_ENST00000463493.1_3'UTR|RAP1B_ENST00000543697.1_Missense_Mutation_p.R115W|RAP1B_ENST00000378985.3_Missense_Mutation_p.R97W|RAP1B_ENST00000542145.1_Missense_Mutation_p.R116W|RAP1B_ENST00000540209.1_Missense_Mutation_p.R144W	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	163					blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		TGACCTAGTGCGGCAAATTAA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	107	106			NA	NA	12		NA											NA				69050899		2203	4300	6503	SO:0001583	missense				CCDS8984.1, CCDS58252.1, CCDS58253.1, CCDS58254.1	12q14	2014-05-09			ENSG00000127314	ENSG00000127314	5908	5908			9857	protein-coding gene	gene with protein product		179530			NA	3137530, 12089143	Standard	NM_001010942	NM_015646	NA	Approved	K-REV, RAL1B, DKFZp586H0723	uc001suc.3	P61224	OTTHUMG00000133660	ENST00000250559.9:c.487C>T	12.37:g.69050899C>T	ENSP00000250559:p.Arg163Trp	NA	B2R5Z2|P09526|Q502X3|Q5TZR4|Q6DCA1|Q6LES0	37	CCDS8984.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666603	0.47677	.	.	ENSG00000127314	ENST00000250559;ENST00000393436;ENST00000341355;ENST00000537460;ENST00000450214;ENST00000538980;ENST00000543393;ENST00000378985;ENST00000540209;ENST00000535492;ENST00000539091;ENST00000542145;ENST00000543697	T;T;T;T;T;T;T;T;T;T;T;T;T	0.79454	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-1.27;-1.27;-0.65;-0.65;-0.65;-0.65;-0.66	5.58	3.72	0.42706	.	0.000000	0.85682	D	0.000000	D	0.87985	0.6316	H	0.98446	4.235	0.80722	D	1	B;D;B;B	0.60160	0.27;0.987;0.215;0.215	B;P;B;B	0.48571	0.014;0.582;0.085;0.069	D	0.91507	0.5224	9	.	.	.	.	11.7183	0.51666	0.1255:0.8074:0.0:0.0671	.	116;121;144;163	B4DW94;B4DW74;B4DQI8;P61224	.;.;.;RAP1B_HUMAN	W	163;163;163;163;121;112;97;97;144;97;121;116;115	ENSP00000250559:R163W;ENSP00000377085:R163W;ENSP00000441275:R163W;ENSP00000439966:R163W;ENSP00000399986:R121W;ENSP00000444467:R112W;ENSP00000445090:R97W;ENSP00000368270:R97W;ENSP00000446318:R144W;ENSP00000443775:R97W;ENSP00000444830:R121W;ENSP00000440014:R116W;ENSP00000440708:R115W	.	R	+	1	2	RAP1B	67337166	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.222000	0.32515	1.507000	0.48752	0.644000	0.83932	CGG	RAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257821.3		+	ENST00000250559.9	Missense_Mutation	SNP	12 : 69050899 - 69050899 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	699	129
DDX60L	91351	broad.mit.edu	37	4	169327130	169327130	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169327130T>G	ENST00000511577.1	-	24	3431	c.3184A>C	c.(3184-3186)Aat>Cat	p.N1062H	DDX60L_ENST00000505890.1_Missense_Mutation_p.N1062H|DDX60L_ENST00000260184.7_Missense_Mutation_p.N1062H			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1062							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TTAATCCAATTTGTCAATTCT	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	105	109			NA	NA	4		NA											NA				169327130		1837	4120	5957	SO:0001583	missense			AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381	91351	91351			26429	protein-coding gene	gene with protein product					NA		Standard	NM_001012967	XM_005263341	NA	Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.3184A>C	4.37:g.169327130T>G	ENSP00000422423:p.Asn1062His	NA	Q96ND6	37		.	.	.	.	.	.	.	.	.	.	T	8.303	0.820426	0.16678	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	T;T;T;T	0.18338	2.22;2.22;2.22;2.89	3.83	1.18	0.20946	.	1.533330	0.05234	U	0.510894	T	0.15132	0.0365	L	0.42245	1.32	0.09310	N	1	B;B;B	0.23442	0.085;0.085;0.085	B;B;B	0.22601	0.04;0.027;0.04	T	0.33007	-0.9885	10	0.42905	T	0.14	.	4.1836	0.10387	0.0:0.1978:0.1758:0.6265	.	1062;1062;1062	E9PAP8;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	H	1062;1062;1062;758	ENSP00000260184:N1062H;ENSP00000422423:N1062H;ENSP00000422202:N1062H;ENSP00000421026:N758H	ENSP00000260184:N1062H	N	-	1	0	DDX60L	169563705	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	0.160000	0.16462	0.343000	0.23821	0.460000	0.39030	AAT	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000364839.1		-	ENST00000511577.1	Missense_Mutation	SNP	4 : 169327130 - 169327130 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	62	13
ENTPD5	957	broad.mit.edu	37	14	74433689	74433689	+	Missense_Mutation	SNP	G	G	A	rs149673221	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74433689G>A	ENST00000557325.1	-	15	1552				ENTPD5_ENST00000334696.6_Missense_Mutation_p.T410M			O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	NA					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		GGCCCAGCCCGTCTCTATGTT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/THR	0,4406		0,0,2203	137	116	123		1229	5.1	0.9	14	dbSNP_134	123	3,8597	3.0+/-9.4	0,3,4297	yes	missense	ENTPD5	NM_001249.2	81	0,3,6500	AA,AG,GG	NA	0.0349,0.0,0.0231	probably-damaging	410/429	74433689	3,13003	2203	4300	6503	SO:0001627	intron_variant			AF039918	CCDS9825.1	14q24	2003-10-03	2003-10-03			ENSG00000187097	957	957			3367	protein-coding gene	gene with protein product		603162	proto-oncogene CPH	CD39L4, PCPH	NA	9271669, 9676430	Standard	NM_001249	NM_001249	NA	Approved	NTPDase-5	uc010tuo.2	O75356		ENST00000557325.1:c.1200+3023C>T	14.37:g.74433689G>A		NA	A1L4C5|Q96RX0	37		.	.	.	.	.	.	.	.	.	.	G	21.1	4.090243	0.76756	0.0	3.49E-4	ENSG00000187097	ENST00000334696	T	0.10668	2.85	5.07	5.07	0.68467	.	0.108369	0.64402	N	0.000007	T	0.24586	0.0596	M	0.65975	2.015	0.80722	D	1	D	0.60160	0.987	P	0.53490	0.727	T	0.00370	-1.1783	10	0.48119	T	0.1	-22.0174	16.8209	0.85745	0.0:0.0:1.0:0.0	.	410	O75356	ENTP5_HUMAN	M	410	ENSP00000335246:T410M	ENSP00000335246:T410M	T	-	2	0	ENTPD5	73503442	1.000000	0.71417	0.933000	0.37362	0.697000	0.40408	6.992000	0.76238	2.638000	0.89438	0.462000	0.41574	ACG	ENTPD5-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000412635.1		-	ENST00000557325.1	Intron	SNP	14 : 74433689 - 74433689 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	74
REV3L	5980	broad.mit.edu	37	6	111709256	111709256	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111709256T>G	ENST00000358835.3	-	9	1349	c.895A>C	c.(895-897)Aaa>Caa	p.K299Q	REV3L_ENST00000368805.1_Missense_Mutation_p.K299Q|REV3L_ENST00000368802.3_Missense_Mutation_p.K299Q|REV3L_ENST00000435970.1_Missense_Mutation_p.K221Q			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	299					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TGAAATTTTTTTTCACTTTCT	0.289		NA						DNA polymerases (catalytic subunits)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	55	54			NA	NA	6		NA											NA				111709256		2203	4298	6501	SO:0001583	missense			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413	5980	5980		DNA polymerases	9968	protein-coding gene	gene with protein product	polymerase, DNA, zeta	602776	REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta, REV3-like, catalytic subunit of DNA polymerase zeta (yeast)		NA	9618506, 9925914	Standard	NM_002912	NM_001286431	NA	Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.895A>C	6.37:g.111709256T>G	ENSP00000351697:p.Lys299Gln	NA	O43214|Q5TC33	37	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	T	18.61	3.660422	0.67586	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.35	5.35	0.76521	Ribonuclease H-like (1);	0.156429	0.45867	D	0.000334	T	0.15955	0.0384	L	0.45581	1.43	0.35880	D	0.828879	P	0.47409	0.895	B	0.39706	0.307	T	0.04041	-1.0982	10	0.29301	T	0.29	.	15.3194	0.74109	0.0:0.0:0.0:1.0	.	299	O60673	DPOLZ_HUMAN	Q	299;299;299;221	ENSP00000357792:K299Q;ENSP00000357795:K299Q;ENSP00000351697:K299Q;ENSP00000402003:K221Q	ENSP00000351697:K299Q	K	-	1	0	REV3L	111815949	1.000000	0.71417	1.000000	0.80357	0.487000	0.33371	6.903000	0.75703	2.017000	0.59298	0.482000	0.46254	AAA	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043695.1		-	ENST00000358835.3	Missense_Mutation	SNP	6 : 111709256 - 111709256 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	286	50
BEST2	54831	broad.mit.edu	37	19	12863439	12863439	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12863439C>T	ENST00000549706.1	+	2	357	c.33C>T	c.(31-33)aaC>aaT	p.N11N	BEST2_ENST00000042931.1_Silent_p.N11N|BEST2_ENST00000553030.1_Silent_p.N11N			Q8NFU1	BEST2_HUMAN	bestrophin 2	11					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						GAGTGGCGAACGCCCGCTTCG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	54	53			NA	NA	19		NA											NA				12863439		2102	4225	6327	SO:0001819	synonymous_variant			AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987	54831	54831		Ion channels / Chloride channels : Calcium activated : Bestrophins	17107	protein-coding gene	gene with protein product		607335	vitelliform macular dystrophy 2-like 1	VMD2L1	NA	12032738, 16912113	Standard	NM_017682	NM_017682	NA	Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.33C>T	19.37:g.12863439C>T		NA	Q53YQ8|Q9NXP0	37	CCDS42506.1																																																																																			BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403343.1		+	ENST00000549706.1	Silent	SNP	19 : 12863439 - 12863439 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	425	66
TMEM57	55219	broad.mit.edu	37	1	25784913	25784913	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25784913G>A	ENST00000374343.4	+	6	863	c.684G>A	c.(682-684)tcG>tcA	p.S228S	TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000470035.1_3'UTR|TMEM57_ENST00000399766.3_Intron	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	228						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		TGGATTCTTCGATCCTTATAC	0.403		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	115	127	123		684	-2.9	0.9	1		123	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	TMEM57	NM_018202.4		0,3,6500	AA,AG,GG	NA	0.0349,0.0,0.0231		228/665	25784913	3,13003	2203	4300	6503	SO:0001819	synonymous_variant			AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178	55219	55219			25572	protein-coding gene	gene with protein product		610301			NA	12459264, 15255972	Standard	NM_018202	XM_005245931	NA	Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.684G>A	1.37:g.25784913G>A		NA	B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	37	CCDS30638.1																																																																																			TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000009659.2		+	ENST00000374343.4	Silent	SNP	1 : 25784913 - 25784913 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	848	174
ARMC3	219681	broad.mit.edu	37	10	23287078	23287078	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23287078G>A	ENST00000298032.5	+	11	1261	c.1177G>A	c.(1177-1179)Gct>Act	p.A393T	ARMC3_ENST00000409983.3_Splice_Site_p.A393T|ARMC3_ENST00000409049.3_Splice_Site_p.A393T|ARMC3_ENST00000376528.4_Splice_Site_p.A130T	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	393							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTTACTCAGCGCTGCTGCTGA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	46	48			NA	NA	10		NA											NA				23287078		2203	4300	6503	SO:0001630	splice_region_variant			AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309	219681	219681		Armadillo repeat containing	30964	protein-coding gene	gene with protein product	cancer/testis antigen 81	611226			NA		Standard	NM_173081	XM_005252380	NA	Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1176-1G>A	10.37:g.23287078G>A		NA	A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	37	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	G	33	5.208318	0.95033	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	5.57	5.57	0.84162	Armadillo-like helical (1);Armadillo-type fold (1);	0.206506	0.50627	N	0.000119	D	0.85182	0.5638	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	0.97;1.0	P;D	0.78314	0.617;0.991	D	0.84323	0.0517	10	0.40728	T	0.16	-15.2023	19.5272	0.95212	0.0:0.0:1.0:0.0	.	393;393	Q5W041-4;Q5W041	.;ARMC3_HUMAN	T	393;393;329;393;130	ENSP00000298032:A393T;ENSP00000386943:A393T;ENSP00000387288:A393T;ENSP00000365711:A130T	ENSP00000298032:A393T	A	+	1	0	ARMC3	23327084	0.999000	0.42202	0.370000	0.25965	0.981000	0.71138	3.217000	0.51184	2.612000	0.88384	0.563000	0.77884	GCT	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047197.2	Missense_Mutation	+	ENST00000298032.5	Splice_Site	SNP	10 : 23287078 - 23287078 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	162	29
KIAA1468	57614	broad.mit.edu	37	18	59899598	59899598	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:59899598A>G	ENST00000256858.6	+	10	1806	c.1558A>G	c.(1558-1560)Atg>Gtg	p.M520V	KIAA1468_ENST00000398130.2_Missense_Mutation_p.M520V|KIAA1468_ENST00000592479.1_3'UTR			Q9P260	K1468_HUMAN	KIAA1468	520							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				AAAAAGCGTTATGTTAATGCT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	121	125			NA	NA	18		NA											NA				59899598		2203	4300	6503	SO:0001583	missense			BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444	57614	57614			29289	protein-coding gene	gene with protein product					NA	11973628	Standard	NM_020854	NM_020854	NA	Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000256858.6:c.1558A>G	18.37:g.59899598A>G	ENSP00000256858:p.Met520Val	NA		37		.	.	.	.	.	.	.	.	.	.	A	2.814	-0.246424	0.05867	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	T;T	0.67523	-0.27;-0.27	5.57	5.57	0.84162	Armadillo-like helical (1);	0.116238	0.85682	D	0.000000	T	0.37999	0.1024	N	0.01352	-0.895	0.58432	D	0.999994	B;B;B	0.17268	0.007;0.021;0.003	B;B;B	0.10450	0.005;0.005;0.004	T	0.39860	-0.9593	9	.	.	.	-17.632	16.0172	0.80450	1.0:0.0:0.0:0.0	.	520;520;164	Q9P260-2;Q9P260;B2RD46	.;K1468_HUMAN;.	V	520	ENSP00000381198:M520V;ENSP00000256858:M520V	.	M	+	1	0	KIAA1468	58050578	1.000000	0.71417	0.989000	0.46669	0.987000	0.75469	6.863000	0.75489	2.239000	0.73571	0.528000	0.53228	ATG	KIAA1468-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000450035.1		+	ENST00000256858.6	Missense_Mutation	SNP	18 : 59899598 - 59899598 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	290	61
ZBTB38	253461	broad.mit.edu	37	3	141163589	141163589	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141163589G>A	ENST00000514251.1	+	4	2638	c.2359G>A	c.(2359-2361)Gaa>Aaa	p.E787K	ZBTB38_ENST00000321464.5_Missense_Mutation_p.E788K|ZBTB38_ENST00000441582.2_Missense_Mutation_p.E787K			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	787					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TACCAGGGGAGAAATACCGGA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	53	53			NA	NA	3		NA											NA				141163589		1858	4100	5958	SO:0001583	missense			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311	253461	253461		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	26636	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 171	612218			NA	12477932	Standard		NM_001080412	NA	Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2359G>A	3.37:g.141163589G>A	ENSP00000426387:p.Glu787Lys	NA	D3DNF6	37	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.241111	0.39598	.	.	ENSG00000177311	ENST00000514251;ENST00000441582;ENST00000321464	T;T;T	0.09255	3.0;3.0;3.0	5.33	5.33	0.75918	.	0.507348	0.19173	N	0.120890	T	0.12987	0.0315	L	0.57536	1.79	0.49389	D	0.99978	P;P	0.43094	0.799;0.799	B;B	0.32980	0.156;0.156	T	0.10109	-1.0644	9	.	.	.	-11.7549	19.0314	0.92959	0.0:0.0:1.0:0.0	.	788;787	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	K	787;787;788	ENSP00000426387:E787K;ENSP00000406955:E787K;ENSP00000372635:E788K	.	E	+	1	0	ZBTB38	142646279	1.000000	0.71417	0.555000	0.28281	0.428000	0.31595	6.996000	0.76263	2.497000	0.84241	0.650000	0.86243	GAA	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359329.2		+	ENST00000514251.1	Missense_Mutation	SNP	3 : 141163589 - 141163589 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	237	31
NBAS	51594	broad.mit.edu	37	2	15555769	15555769	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15555769C>T	ENST00000281513.5	-	25	2863	c.2838G>A	c.(2836-2838)tcG>tcA	p.S946S	NBAS_ENST00000441750.1_Intron	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	946										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CCACACCAGGCGACTGTTTCT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	88	87			NA	NA	2		NA											NA				15555769		2203	4300	6503	SO:0001819	synonymous_variant			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779	51594	51594			15625	protein-coding gene	gene with protein product		608025			NA	9926938, 12706883	Standard	NM_015909	NM_015909	NA	Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.2838G>A	2.37:g.15555769C>T		NA	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	37	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	8.547	0.874693	0.17395	.	.	ENSG00000151779	ENST00000429842	.	.	.	6.16	0.815	0.18763	.	.	.	.	.	T	0.43919	0.1269	.	.	.	0.49687	D	0.999817	.	.	.	.	.	.	T	0.22871	-1.0204	4	.	.	.	.	3.1483	0.06479	0.5378:0.1105:0.2501:0.1016	.	.	.	.	T	44	.	.	A	-	1	0	NBAS	15473220	0.667000	0.27484	0.840000	0.33206	0.899000	0.52679	0.235000	0.17948	0.212000	0.20703	-0.271000	0.10264	GCC	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000241638.1		-	ENST00000281513.5	Silent	SNP	2 : 15555769 - 15555769 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	574	150
STK11	6794	broad.mit.edu	37	19	1206967	1206967	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1206967T>C	ENST00000326873.7	+	1	1228	c.55T>C	c.(55-57)Tcg>Ccg	p.S19P	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	19					anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(3)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAGCTGATGTCGGTGGGTAT	0.662		14	D, Mis, N, F, S		NSCLC, pancreatic	jejunal harmartoma, ovarian, testicular, pancreatic			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		E, M, O	23	Whole gene deletion(20)|Unknown(2)|Deletion - Frameshift(1)	cervix(15)|lung(3)|skin(1)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)											20	24	23			NA	NA	19		NA											NA				1206967		2067	4198	6265	SO:0001583	missense	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046	6794	6794			11389	protein-coding gene	gene with protein product	polarization-related protein LKB1	602216	serine/threonine kinase 11 (Peutz-Jeghers syndrome)		NA	9425897	Standard	NM_000455	XM_005259617	NA	Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.55T>C	19.37:g.1206967T>C	ENSP00000324856:p.Ser19Pro	NA	B2RBX7|E7EW76	37	CCDS45896.1	.	.	.	.	.	.	.	.	.	.	T	16.59	3.165459	0.57476	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	D	0.87571	-2.27	3.9	2.84	0.33178	.	0.000000	0.51477	D	0.000089	T	0.80763	0.4685	L	0.44542	1.39	0.41654	D	0.989144	B	0.06786	0.001	B	0.08055	0.003	T	0.72450	-0.4290	10	0.44086	T	0.13	-9.5019	9.3951	0.38397	0.0:0.0:0.1802:0.8198	.	19	Q15831	STK11_HUMAN	P	19	ENSP00000324856:S19P	ENSP00000324856:S19P	S	+	1	0	STK11	1157967	1.000000	0.71417	0.987000	0.45799	0.990000	0.78478	3.717000	0.54911	0.362000	0.24319	0.379000	0.24179	TCG	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449839.3		+	ENST00000326873.7	Missense_Mutation	SNP	19 : 1206967 - 1206967 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	90	16
RPS11	6205	broad.mit.edu	37	19	50001263	50001263	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50001263C>T	ENST00000270625.2	+	4	396	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C	RPS11_ENST00000594493.1_Missense_Mutation_p.R26C|RPS11_ENST00000596873.1_Missense_Mutation_p.R105C|RPS11_ENST00000599561.1_Missense_Mutation_p.A70V	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN	ribosomal protein S11	105					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|rRNA binding|structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		CTTCGAGAAGCGCCACAAGAA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	90	99			NA	NA	19		NA											NA				50001263		2203	4300	6503	SO:0001583	missense			AB007152	CCDS12769.1	19q13.3	2011-08-03			ENSG00000142534	ENSG00000142534	6205	6205		S ribosomal proteins	10384	protein-coding gene	gene with protein product	40S ribosomal protein S11	180471			NA	1577483, 9582194	Standard	NM_001015	NM_001015	NA	Approved	S11	uc002pob.2	P62280		ENST00000270625.2:c.313C>T	19.37:g.50001263C>T	ENSP00000270625:p.Arg105Cys	NA	B2R4F5|P04643|Q498Y6|Q6IRY0	37	CCDS12769.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949952	0.53186	.	.	ENSG00000142534	ENST00000270625	.	.	.	4.89	4.89	0.63831	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.109453	0.64402	N	0.000011	T	0.81740	0.4886	H	0.99712	4.72	0.80722	D	1	B	0.27229	0.172	B	0.13407	0.009	D	0.84106	0.0398	8	.	.	.	-23.5429	9.2385	0.37481	0.0:0.9009:0.0:0.0991	.	105	P62280	RS11_HUMAN	C	105	.	.	R	+	1	0	RPS11	54693075	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.692000	0.61746	2.256000	0.74724	0.561000	0.74099	CGC	RPS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465288.1		+	ENST00000270625.2	Missense_Mutation	SNP	19 : 50001263 - 50001263 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	419	99
ISCA2	122961	broad.mit.edu	37	14	74961670	74961670	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74961670C>T	ENST00000554924.1	+	0	326				ISCA2_ENST00000556816.1_Silent_p.C144C|ISCA2_ENST00000298818.8_3'UTR			Q86U28	ISCA2_HUMAN	iron-sulfur cluster assembly 2	NA					iron-sulfur cluster assembly	mitochondrion	iron-sulfur cluster binding|metal ion binding|structural molecule activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00146)		AGCAAGGCTGCTCCTGTGGGT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	118	118			NA	NA	14		NA											NA				74961670		2203	4300	6503	SO:0001624	3_prime_UTR_variant				CCDS32122.1, CCDS61504.1	14q24.2	2013-08-06	2013-08-06	2007-01-18	ENSG00000165898	ENSG00000165898	122961	122961			19857	protein-coding gene	gene with protein product		615317	HesB like domain containing 1, iron-sulfur cluster assembly 2 homolog (S. cerevisiae)	HBLD1	NA	22323289	Standard	NM_194279	NM_194279	NA	Approved	ISA2	uc001xpz.3	Q86U28		ENST00000554924.1:c.*133C>T	14.37:g.74961670C>T		NA	A6NFF1|A8K3W3|Q8IYZ0|Q96BB2	37																																																																																				ISCA2-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000412356.1		+	ENST00000554924.1	3'UTR	SNP	14 : 74961670 - 74961670 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	456	77
ACSL6	23305	broad.mit.edu	37	5	131329877	131329877	+	Silent	SNP	C	C	T	rs17854460		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131329877C>T	ENST00000379244.1	-	2	278	c.42G>A	c.(40-42)gaG>gaA	p.E14E	ACSL6_ENST00000544770.1_5'UTR|ACSL6_ENST00000379272.2_Silent_p.E14E|ACSL6_ENST00000379264.2_Silent_p.E39E|ACSL6_ENST00000379240.1_Silent_p.E14E|ACSL6_ENST00000357096.1_Silent_p.E14E|ACSL6_ENST00000379249.3_Silent_p.E14E|ACSL6_ENST00000431707.1_Silent_p.E14E|ACSL6_ENST00000477640.1_5'UTR|ACSL6_ENST00000379255.1_Silent_p.E14E|ACSL6_ENST00000379246.1_Silent_p.E25E|ACSL6_ENST00000296869.4_Silent_p.E39E|ACSL6_ENST00000543479.1_Silent_p.E14E			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	14					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTCACCTAGCTCAGGCAGTC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	64	69			NA	NA	5		NA											NA				131329877		2203	4300	6503	SO:0001819	synonymous_variant			AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398	23305	23305		Acyl-CoA synthetase family	16496	protein-coding gene	gene with protein product		604443	fatty-acid-Coenzyme A ligase, long-chain 6	FACL6	NA	10502316, 10548543	Standard	NM_015256	NM_015256	NA	Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379244.1:c.42G>A	5.37:g.131329877C>T		NA	O94924|O95829|Q108M9|Q108N0|Q86TN7	37	CCDS56381.1																																																																																			ACSL6-008	NOVEL	not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132626.1		-	ENST00000379244.1	Silent	SNP	5 : 131329877 - 131329877 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	207	41
CHRNA1	1134	broad.mit.edu	37	2	175624353	175624353	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:175624353C>T	ENST00000409219.1	-	2	69	c.52G>A	c.(52-54)Gtc>Atc	p.V18I	CHRNA1_ENST00000261007.5_Missense_Mutation_p.V18I|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000348749.5_Missense_Mutation_p.V18I|CHRNA1_ENST00000409323.1_Missense_Mutation_p.V18I|CHRNA1_ENST00000409542.1_Missense_Mutation_p.V18I			P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	18					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.V18F(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						GAGCCCAGGACGAGGCCAGCT	0.557		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)											52	51	51			NA	NA	2		NA											NA				175624353		2203	4300	6503	SO:0001583	missense			Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435	1134	1134		Cholinergic receptors, Ligand-gated ion channels / Acetylcholine receptors, nicotinic	1955	protein-coding gene	gene with protein product	acetylcholine receptor, nicotinic, alpha 1 (muscle)	100690	cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)	CHRNA	NA		Standard		NM_001039523	NA	Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000409219.1:c.52G>A	2.37:g.175624353C>T	ENSP00000386611:p.Val18Ile	NA	B4DRV6|D3DPE8	37		.	.	.	.	.	.	.	.	.	.	C	14.14	2.445994	0.43429	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542;ENST00000409219;ENST00000409323	T;T;D;T;T	0.83163	-1.16;-1.28;-1.69;-1.45;-0.79	5.92	3.12	0.35913	.	0.188846	0.45606	D	0.000347	T	0.72953	0.3525	L	0.33189	0.99	0.32774	N	0.50346	B;B;B	0.13145	0.007;0.002;0.004	B;B;B	0.06405	0.002;0.001;0.002	T	0.74241	-0.3729	10	0.37606	T	0.19	.	11.4068	0.49902	0.0:0.8099:0.0:0.1901	.	18;18;18	G5E9G9;Q53SH4;P02708	.;.;ACHA_HUMAN	I	18	ENSP00000261008:V18I;ENSP00000261007:V18I;ENSP00000387026:V18I;ENSP00000386611:V18I;ENSP00000386684:V18I	ENSP00000261007:V18I	V	-	1	0	CHRNA1	175332599	0.885000	0.30320	0.996000	0.52242	0.981000	0.71138	1.785000	0.38684	1.503000	0.48686	0.467000	0.42956	GTC	CHRNA1-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000334119.1		-	ENST00000409219.1	Missense_Mutation	SNP	2 : 175624353 - 175624353 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	549	85
MS4A12	54860	broad.mit.edu	37	11	60271185	60271185	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60271185C>T	ENST00000016913.4	+	5	540	c.483C>T	c.(481-483)agC>agT	p.S161S	MS4A12_ENST00000537076.1_Silent_p.S115S	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	161						integral to membrane	receptor activity			breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						TGAAAGGCAGCCTGGGAATGA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	141	147			NA	NA	11		NA											NA				60271185		2203	4300	6503	SO:0001819	synonymous_variant			AK000224	CCDS7988.1, CCDS53638.1	11q12	2008-03-25				ENSG00000071203	54860	54860			13370	protein-coding gene	gene with protein product		606550			NA	11401424, 11486273	Standard		NM_017716	NA	Approved	Ms4a10, FLJ20217	uc001npr.3	Q9NXJ0		ENST00000016913.4:c.483C>T	11.37:g.60271185C>T		NA	Q8N6L4	37	CCDS7988.1																																																																																			MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383627.1		+	ENST00000016913.4	Silent	SNP	11 : 60271185 - 60271185 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	406	75
SACS	26278	broad.mit.edu	37	13	23910802	23910802	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23910802C>A	ENST00000382292.3	-	9	7486	c.7213G>T	c.(7213-7215)Gaa>Taa	p.E2405*	SACS_ENST00000382298.3_Nonsense_Mutation_p.E2405*|SACS_ENST00000402364.1_Nonsense_Mutation_p.E1655*			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2405					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCAATAGATTCCAAAACAAGA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	39	39			NA	NA	13		NA											NA				23910802		2202	4299	6501	SO:0001587	stop_gained			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835	26278	26278		Heat shock proteins / DNAJ (HSP40)	10519	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 138	604490	spastic ataxia of Charlevoix-Saguenay (sacsin)		NA	10610707, 15057823, 21726565	Standard	NM_014363	NM_001278055	NA	Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.7213G>T	13.37:g.23910802C>A	ENSP00000371729:p.Glu2405*	NA	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	56	26.674665	0.99969	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	.	.	.	5.73	5.73	0.89815	.	0.108347	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	19.9025	0.96993	0.0:1.0:0.0:0.0	.	.	.	.	X	2405;1655;2405	.	ENSP00000371729:E2405X	E	-	1	0	SACS	22808802	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	4.599000	0.61076	2.722000	0.93159	0.655000	0.94253	GAA	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044148.3		-	ENST00000382292.3	Nonsense_Mutation	SNP	13 : 23910802 - 23910802 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	217	36
CCDC60	160777	broad.mit.edu	37	12	119916949	119916949	+	Missense_Mutation	SNP	G	G	A	rs144234053		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119916949G>A	ENST00000327554.2	+	4	857	c.392G>A	c.(391-393)cGc>cAc	p.R131H	RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	131								p.R131H(3)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GTCACACGTCGCCCATTCACT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				3	Substitution - Missense(3)	lung(2)|ovary(1)						G	HIS/ARG	0,4406		0,0,2203	224	171	189		392	2.6	0	12	dbSNP_134	189	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC60	NM_178499.3	29	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	131/551	119916949	1,13005	2203	4300	6503	SO:0001583	missense			BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273	160777	160777			28610	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_178499	NM_178499	NA	Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.392G>A	12.37:g.119916949G>A	ENSP00000333374:p.Arg131His	NA		37	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873165	0.33069	0.0	1.16E-4	ENSG00000183273	ENST00000327554	T	0.37411	1.2	4.44	2.62	0.31277	.	0.000000	0.51477	D	0.000083	T	0.27731	0.0682	L	0.52126	1.63	0.09310	N	0.999997	B	0.25667	0.131	B	0.22880	0.042	T	0.14896	-1.0456	9	.	.	.	-7.2754	7.1847	0.25793	0.2043:0.0:0.7957:0.0	.	131	Q8IWA6	CCD60_HUMAN	H	131	ENSP00000333374:R131H	.	R	+	2	0	CCDC60	118401332	0.009000	0.17119	0.026000	0.17262	0.001000	0.01503	0.441000	0.21611	0.612000	0.30071	-0.143000	0.13931	CGC	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401680.1		+	ENST00000327554.2	Missense_Mutation	SNP	12 : 119916949 - 119916949 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	335	60
ZNF792	126375	broad.mit.edu	37	19	35449350	35449350	+	Missense_Mutation	SNP	C	C	T	rs146414036		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35449350C>T	ENST00000404801.1	-	4	1795	c.1409G>A	c.(1408-1410)cGa>cAa	p.R470Q	ZNF792_ENST00000605484.1_Missense_Mutation_p.R403Q	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AGTGTGAACTCGCTGATGTTT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(1;7 183 21053 22581 22847)							NA				0								C	GLN/ARG	0,4406		0,0,2203	116	112	113		1409	1.6	0.1	19	dbSNP_134	113	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF792	NM_175872.4	43	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	470/633	35449350	1,13005	2203	4300	6503	SO:0001583	missense			AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884	126375	126375		Zinc fingers, C2H2-type, -	24751	protein-coding gene	gene with protein product					NA	8889548	Standard	NM_175872	NM_175872	NA	Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.1409G>A	19.37:g.35449350C>T	ENSP00000385099:p.Arg470Gln	NA	B4E333|Q495L1|Q495L3|Q8N932	37	CCDS12440.2	.	.	.	.	.	.	.	.	.	.	c	18.09	3.545878	0.65198	0.0	1.16E-4	ENSG00000180884	ENST00000404801;ENST00000379189	T	0.24723	1.84	2.61	1.57	0.23409	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42653	0.1212	M	0.69463	2.115	0.23076	N	0.998336	D	0.89917	1.0	D	0.66497	0.944	T	0.13255	-1.0516	9	0.87932	D	0	.	7.4294	0.27118	0.0:0.8604:0.0:0.1396	.	470	Q3KQV3	ZN792_HUMAN	Q	470;230	ENSP00000385099:R470Q	ENSP00000368487:R230Q	R	-	2	0	ZNF792	40141190	0.000000	0.05858	0.136000	0.22124	0.920000	0.55202	0.774000	0.26675	0.665000	0.31066	0.563000	0.77884	CGA	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317673.1		-	ENST00000404801.1	Missense_Mutation	SNP	19 : 35449350 - 35449350 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	642	122
CD93	22918	broad.mit.edu	37	20	23066662	23066662	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23066662G>A	ENST00000246006.4	-	1	315	c.168C>T	c.(166-168)aaC>aaT	p.N56N		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	56	C-type lectin.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGTTGCCCCCGTTCTGGTTGC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	31	33			NA	NA	20		NA											NA				23066662		2203	4300	6503	SO:0001819	synonymous_variant			U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810	22918	22918		CD molecules	15855	protein-coding gene	gene with protein product		120577	matrix-remodelling associated 4, complement component 1, q subcomponent, receptor 1, CD93 antigen	MXRA4, C1QR1	NA	9047234, 10648005	Standard	NM_012072	NM_012072	NA	Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.168C>T	20.37:g.23066662G>A		NA	O00274	37	CCDS13149.1																																																																																			CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078312.2		-	ENST00000246006.4	Silent	SNP	20 : 23066662 - 23066662 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	114	17
SIX4	51804	broad.mit.edu	37	14	61180513	61180513	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61180513A>G	ENST00000216513.4	-	3	2017	c.1958T>C	c.(1957-1959)gTg>gCg	p.V653A		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	653						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GACAGATGTCACAGTAGATTT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	104	112			NA	NA	14		NA											NA				61180513		2203	4300	6503	SO:0001583	missense			AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625	51804	51804		Homeoboxes / SINE class	10890	protein-coding gene	gene with protein product		606342	sine oculis homeobox (Drosophila) homolog 4, sine oculis homeobox homolog 4 (Drosophila)		NA	10512683, 10640827	Standard		NM_017420	NA	Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.1958T>C	14.37:g.61180513A>G	ENSP00000216513:p.Val653Ala	NA	Q4QQH5|Q4V764	37	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	A	11.64	1.699771	0.30142	.	.	ENSG00000100625	ENST00000216513;ENST00000554079	D;T	0.92099	-2.97;0.67	5.41	3.01	0.34805	.	0.806408	0.11312	N	0.577045	D	0.82779	0.5111	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.70156	-0.4949	10	0.23891	T	0.37	.	7.3826	0.26864	0.6588:0.2713:0.07:0.0	.	653	Q9UIU6	SIX4_HUMAN	A	653;326	ENSP00000216513:V653A;ENSP00000451537:V326A	ENSP00000216513:V653A	V	-	2	0	SIX4	60250266	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	2.702000	0.47102	0.422000	0.26005	0.533000	0.62120	GTG	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000072397.2		-	ENST00000216513.4	Missense_Mutation	SNP	14 : 61180513 - 61180513 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	199	28
ALG9	79796	broad.mit.edu	37	11	111724395	111724395	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111724395G>A	ENST00000398006.2	-	7	1161	c.253C>T	c.(253-255)Ctg>Ttg	p.L85L	ALG9_ENST00000531154.1_Silent_p.L85L|ALG9_ENST00000524880.1_3'UTR|ALG9_ENST00000527228.1_5'UTR	NM_001077690.1|NM_001077691.1|NM_001077692.1	NP_001071158.1|NP_001071159.1|NP_001071160.1	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	256					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		AGGGCCATCAGCGACCAATGA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	109	111			NA	NA	11		NA											NA				111724395		1843	4086	5929	SO:0001819	synonymous_variant				CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	79796	79796	2.4.1.259, 2.4.1.261	Dolichyl D-mannosyl phosphate dependent mannosyltransferases	15672	protein-coding gene	gene with protein product	dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase, dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase, dol-P-Man dependent alpha-1,2-mannosyltransferase	606941	disrupted in bipolar affective disorder 1, asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase), asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase), asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)	DIBD1	NA	12030331, 15148656	Standard	NM_024740	NM_024740	NA	Approved		uc021qql.1	Q9H6U8	OTTHUMG00000166819	ENST00000398006.2:c.253C>T	11.37:g.111724395G>A		NA	Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	37	CCDS53709.1																																																																																			ALG9-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391486.1		-	ENST00000398006.2	Silent	SNP	11 : 111724395 - 111724395 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	416	63
SCUBE1	80274	broad.mit.edu	37	22	43634902	43634902	+	Silent	SNP	G	G	A	rs140715405	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43634902G>A	ENST00000360835.4	-	7	912	c.786C>T	c.(784-786)ggC>ggT	p.G262G	Z82214.2_ENST00000419643.1_RNA|SCUBE1_ENST00000290460.7_Silent_p.G292G	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	NA	EGF-like 5 (Potential).|EGF-like 6 (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TGCATCGCACGCCAGTGGCTG	0.602		NA											g	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	2e-04	NA	NA	NA	5e-04	0.9547	LOWCOV,EXOME	NA	NA	0.004	SNP								NA				0													66	53	57			NA	NA	22		NA											NA				43634902		2202	4300	6502	SO:0001819	synonymous_variant				CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307	80274	80274			13441	protein-coding gene	gene with protein product		611746			NA	11087664	Standard	NM_173050	NM_173050	NA	Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.786C>T	22.37:g.43634902G>A		NA	Q5R336	37	CCDS14048.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	g|g	1.631|1.631	-0.518974|-0.518974	0.04171|0.04171	.|.	.|.	ENSG00000159307|ENSG00000159307	ENST00000381243|ENST00000449304	.|.	.|.	.|.	5.5|5.5	-9.04|-9.04	0.00734|0.00734	.|.	.|.	.|.	.|.	.|.	T|T	0.32133|0.32133	0.0819|0.0819	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.43988|0.43988	-0.9357|-0.9357	5|4	0.37606|.	T|.	0.19|.	.|.	0.8891|0.8891	0.01250|0.01250	0.4082:0.1552:0.1447:0.2919|0.4082:0.1552:0.1447:0.2919	.|.	.|.	.|.	.|.	V|C	55|116	.|.	ENSP00000370642:A55V|.	A|R	-|-	2|1	0|0	SCUBE1|SCUBE1	41964846|41964846	0.001000|0.001000	0.12720|0.12720	0.374000|0.374000	0.26016|0.26016	0.025000|0.025000	0.11179|0.11179	-1.629000|-1.629000	0.02029|0.02029	-1.170000|-1.170000	0.02769|0.02769	-2.103000|-2.103000	0.00360|0.00360	GCG|CGT	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319582.3		-	ENST00000360835.4	Silent	SNP	22 : 43634902 - 43634902 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	63
STAG3	10734	broad.mit.edu	37	7	99786553	99786553	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99786553G>A	ENST00000426455.1	+	7	1036	c.629G>A	c.(628-630)gGc>gAc	p.G210D	STAG3_ENST00000394018.2_Missense_Mutation_p.G152D|STAG3_ENST00000317296.5_Missense_Mutation_p.G210D	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	210					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCTATGATGGCTTCCCTATG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	124	127			NA	NA	7		NA											NA				99786553		2203	4300	6503	SO:0001583	missense			AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923	10734	10734			11356	protein-coding gene	gene with protein product		608489			NA	10698974	Standard	NM_012447	XM_005250116	NA	Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.629G>A	7.37:g.99786553G>A	ENSP00000400359:p.Gly210Asp	NA	A6H8Z1|D6W5U8|Q8NDP3	37	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	.	15.15	2.748218	0.49257	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000317296;ENST00000439782	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	5.31	4.35	0.52113	STAG (1);	0.389572	0.22016	N	0.065798	T	0.17874	0.0429	N	0.02865	-0.47	0.42558	D	0.993133	B;B	0.11235	0.004;0.0	B;B	0.17979	0.02;0.008	T	0.08597	-1.0714	10	0.38643	T	0.18	-14.851	6.3818	0.21540	0.1895:0.0:0.8105:0.0	.	152;210	B4DZ10;Q9UJ98	.;STAG3_HUMAN	D	210;152;210;152	ENSP00000400359:G210D;ENSP00000377586:G152D;ENSP00000319318:G210D;ENSP00000397067:G152D	ENSP00000319318:G210D	G	+	2	0	STAG3	99624489	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	6.081000	0.71309	2.765000	0.95021	0.555000	0.69702	GGC	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000338734.2		+	ENST00000426455.1	Missense_Mutation	SNP	7 : 99786553 - 99786553 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	471	136
APAF1	317	broad.mit.edu	37	12	99059345	99059345	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:99059345G>A	ENST00000359972.2	+	8	1514	c.937G>A	c.(937-939)Gta>Ata	p.V313I	APAF1_ENST00000551964.1_Missense_Mutation_p.V324I|APAF1_ENST00000549007.1_Missense_Mutation_p.V324I|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000547045.1_Missense_Mutation_p.V324I|APAF1_ENST00000550527.1_Missense_Mutation_p.V313I|APAF1_ENST00000357310.1_Missense_Mutation_p.V324I|APAF1_ENST00000339433.3_Missense_Mutation_p.V324I	NM_001160.2|NM_013229.2	NP_001151.1|NP_037361.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	324	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TCCCCTTGTAGTATCTTTAAT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	115	112			NA	NA	12		NA											NA				99059345		2202	4300	6502	SO:0001583	missense			AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868	317	317		WD repeat domain containing	576	protein-coding gene	gene with protein product		602233	apoptotic protease activating factor, apoptotic peptidase activating factor		NA	9267021, 10702682	Standard	NM_181861.1	NM_181861	NA	Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000359972.2:c.937G>A	12.37:g.99059345G>A	ENSP00000353059:p.Val313Ile	NA	B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	37	CCDS55863.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.567535	0.45694	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	4.96	4.07	0.47477	NB-ARC (1);	0.180815	0.47852	N	0.000204	T	0.59500	0.2198	N	0.04508	-0.205	0.80722	D	1	B;B;B;P	0.51537	0.008;0.001;0.016;0.946	B;B;B;P	0.48795	0.123;0.031;0.038;0.59	T	0.56294	-0.8003	10	0.10636	T	0.68	-22.9329	10.1916	0.43030	0.1753:0.0:0.8247:0.0	.	324;313;324;313	O14727-4;O14727-3;O14727;O14727-2	.;.;APAF_HUMAN;.	I	324;313;324;324;313;324;324	ENSP00000448165:V324I;ENSP00000353059:V313I;ENSP00000349862:V324I;ENSP00000341830:V324I;ENSP00000448449:V313I;ENSP00000449791:V324I;ENSP00000448161:V324I	ENSP00000341830:V324I	V	+	1	0	APAF1	97583476	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	4.475000	0.60210	1.088000	0.41272	0.650000	0.86243	GTA	APAF1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408007.1		+	ENST00000359972.2	Missense_Mutation	SNP	12 : 99059345 - 99059345 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	862	159
ALPPL2	251	broad.mit.edu	37	2	233274417	233274417	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233274417G>A	ENST00000295453.3	+	11	1486	c.1434G>A	c.(1432-1434)gcG>gcA	p.A478A		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	478					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	CCTTCATAGCGCACGTCATGG	0.751		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	18	17			NA	NA	2		NA											NA				233274417		2184	4280	6464	SO:0001819	synonymous_variant			J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286	251	251			441	protein-coding gene	gene with protein product		171810			NA		Standard	NM_031313	NM_031313	NA	Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.1434G>A	2.37:g.233274417G>A		NA	A8KAF2|Q16727|Q53S81|Q96CM1	37	CCDS2491.1																																																																																			ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257034.2		+	ENST00000295453.3	Silent	SNP	2 : 233274417 - 233274417 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	211	45
ITGAX	3687	broad.mit.edu	37	16	31382482	31382482	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31382482G>T	ENST00000268296.4	+	15	1909	c.1788G>T	c.(1786-1788)caG>caT	p.Q596H	ITGAX_ENST00000562522.1_Missense_Mutation_p.Q596H	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	596					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						ACCTCACCCAGGATGGACTGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	56	54			NA	NA	16		NA											NA				31382482		2197	4300	6497	SO:0001583	missense			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678	3687	3687		CD molecules, Complement system, Integrins	6152	protein-coding gene	gene with protein product		151510	integrin, alpha X (antigen CD11C (p150), alpha polypeptide)	CD11C	NA	3284962, 2303426	Standard	NM_000887	NM_001286375	NA	Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1788G>T	16.37:g.31382482G>T	ENSP00000268296:p.Gln596His	NA	Q8IVA6	37	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.106802	0.37145	.	.	ENSG00000140678	ENST00000268296	T	0.55588	0.51	5.39	4.44	0.53790	.	.	.	.	.	T	0.43722	0.1260	L	0.41961	1.31	0.28191	N	0.927758	B	0.13145	0.007	B	0.11329	0.006	T	0.36089	-0.9762	9	0.42905	T	0.14	.	8.4724	0.32993	0.1767:0.0:0.8233:0.0	.	596	P20702	ITAX_HUMAN	H	596	ENSP00000268296:Q596H	ENSP00000268296:Q596H	Q	+	3	2	ITGAX	31289983	0.989000	0.36119	0.873000	0.34254	0.857000	0.48899	1.990000	0.40717	1.390000	0.46547	0.655000	0.94253	CAG	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255628.2		+	ENST00000268296.4	Missense_Mutation	SNP	16 : 31382482 - 31382482 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	604	41
MACF1	23499	broad.mit.edu	37	1	39799706	39799706	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39799706G>A	ENST00000372915.3	+	36	7548	c.7461G>A	c.(7459-7461)caG>caA	p.Q2487Q	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Silent_p.Q922Q|MACF1_ENST00000567887.1_Silent_p.Q2519Q|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Silent_p.Q2482Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2487					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGTTGTGCAGTCCATTGACA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	154	152			NA	NA	1		NA											NA				39799706		2203	4300	6503	SO:0001819	synonymous_variant			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603	23499	23499		EF-hand domain containing	13664	protein-coding gene	gene with protein product	actin cross-linking factor, 620 kDa actin binding protein, macrophin 1, trabeculin-alpha, actin cross-linking family protein 7	608271			NA	7635207, 10529403	Standard	NM_033044	NM_012090	NA	Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.7461G>A	1.37:g.39799706G>A		NA	E9PJT0|O75053|Q5VW20|Q8WXY2|Q9H540|Q9UKP0|Q9ULG9	37																																																																																				MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000392096.1		+	ENST00000372915.3	Silent	SNP	1 : 39799706 - 39799706 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	618	152
PIK3CG	5294	broad.mit.edu	37	7	106513208	106513208	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:106513208C>T	ENST00000359195.3	+	4	2422	c.2112C>T	c.(2110-2112)gcC>gcT	p.A704A	PIK3CG_ENST00000440650.2_Silent_p.A704A|PIK3CG_ENST00000496166.1_Silent_p.A704A	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	704					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GTGAGATAGCCCAGTCCAGAC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	109	109			NA	NA	7		NA											NA				106513208		2203	4300	6503	SO:0001819	synonymous_variant				CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	5294	5294	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	phosphoinositide-3-kinase, catalytic, gamma polypeptide		NA		Standard		XM_005250443	NA	Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2112C>T	7.37:g.106513208C>T		NA	Q8IV23|Q9BZC8	37	CCDS5739.1																																																																																			PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349294.1		+	ENST00000359195.3	Silent	SNP	7 : 106513208 - 106513208 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	464	78
CLASP2	23122	broad.mit.edu	37	3	33729814	33729814	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33729814C>T	ENST00000399362.4	-	4	778	c.425G>A	c.(424-426)cGa>cAa	p.R142Q	CLASP2_ENST00000468888.2_Missense_Mutation_p.R142Q|CLASP2_ENST00000359576.5_Missense_Mutation_p.R142Q|CLASP2_ENST00000307312.7_5'UTR	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	142										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TTCTCGAGATCGAAAATTCTT	0.284		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	24	25			NA	NA	3		NA											NA				33729814		1814	4084	5898	SO:0001583	missense			AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539	23122	23122			17078	protein-coding gene	gene with protein product		605853			NA	9734811, 10899121	Standard	NM_001207044	NM_015097	NA	Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000399362.4:c.425G>A	3.37:g.33729814C>T	ENSP00000382297:p.Arg142Gln	NA		37		.	.	.	.	.	.	.	.	.	.	C	33	5.230980	0.95207	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576	T;T;T	0.38240	1.15;1.15;1.15	4.67	4.67	0.58626	.	0.000000	0.64402	D	0.000001	T	0.61602	0.2360	M	0.83483	2.645	0.80722	D	1	D	0.69078	0.997	D	0.66847	0.947	T	0.67138	-0.5746	10	0.62326	D	0.03	-11.3274	15.3439	0.74320	0.0:1.0:0.0:0.0	.	142	F5H604	.	Q	142	ENSP00000419974:R142Q;ENSP00000382297:R142Q;ENSP00000352581:R142Q	ENSP00000352581:R142Q	R	-	2	0	CLASP2	33704818	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.526000	0.60566	2.534000	0.85438	0.655000	0.94253	CGA	CLASP2-002	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000356444.3		-	ENST00000399362.4	Missense_Mutation	SNP	3 : 33729814 - 33729814 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	57	12
KDM2A	22992	broad.mit.edu	37	11	67012741	67012741	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67012741T>C	ENST00000529006.2	+	14	2091	c.1645T>C	c.(1645-1647)Tta>Cta	p.L549L	KDM2A_ENST00000308783.5_Silent_p.L7L|KDM2A_ENST00000530342.1_Silent_p.L110L|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Silent_p.L549L	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						AGCTCCACGGTTAACACCTGT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	115	112			NA	NA	11		NA											NA				67012741		2045	4176	6221	SO:0001819	synonymous_variant			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120	22992	22992		F-boxes / Leucine-rich repeats, Chromatin-modifying enzymes / K-demethylases	13606	protein-coding gene	gene with protein product	F-box protein FBL11, jumonji C domain-containing histone demethylase 1A	605657	F-box and leucine-rich repeat protein 11	FBXL11	NA	10231032, 10531037	Standard	NM_012308	NM_012308	NA	Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.1645T>C	11.37:g.67012741T>C		NA	Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	37	CCDS44657.1																																																																																			KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393140.2		+	ENST00000529006.2	Silent	SNP	11 : 67012741 - 67012741 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	832	105
C6orf222	389384	broad.mit.edu	37	6	36298366	36298366	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36298366G>A	ENST00000437635.2	-	2	279	c.102C>T	c.(100-102)tgC>tgT	p.C34C		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	34										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						AGAGCCAATGGCAGTCCCACG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	59	57			NA	NA	6		NA											NA				36298366		2203	4300	6503	SO:0001819	synonymous_variant				CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325	389384	389384			33769	protein-coding gene	gene with protein product					NA		Standard	NM_001010903	NM_001010903	NA	Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.102C>T	6.37:g.36298366G>A		NA	B2RTY8	37	CCDS34439.1																																																																																			C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040338.2		-	ENST00000437635.2	Silent	SNP	6 : 36298366 - 36298366 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	680	126
NEIL3	55247	broad.mit.edu	37	4	178262667	178262667	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:178262667A>C	ENST00000264596.3	+	6	858	c.740A>C	c.(739-741)aAg>aCg	p.K247T		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	247					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		AAACACTATAAGGTTTACAAG	0.408		NA						Base excision repair (BER), DNA glycosylases						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	81	83			NA	NA	4		NA											NA				178262667		2203	4300	6503	SO:0001583	missense			AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674	55247	55247			24573	protein-coding gene	gene with protein product	zinc finger, GRF-type containing 3	608934			NA	12713815, 12509226	Standard	NM_018248	NM_018248	NA	Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.740A>C	4.37:g.178262667A>C	ENSP00000264596:p.Lys247Thr	NA	Q2PPJ3|Q8NG51|Q9NV95	37	CCDS3828.1	.	.	.	.	.	.	.	.	.	.	A	15.36	2.811025	0.50421	.	.	ENSG00000109674	ENST00000264596	T	0.13657	2.57	5.76	4.6	0.57074	Zinc finger, DNA glycosylase/AP lyase-type (1);Ribosomal protein S13-like, H2TH (1);	0.104491	0.64402	D	0.000004	T	0.34483	0.0899	M	0.75264	2.295	0.49483	D	0.999798	D	0.89917	1.0	D	0.74674	0.984	T	0.05971	-1.0853	10	0.56958	D	0.05	-14.7212	11.2119	0.48804	0.9289:0.0:0.0711:0.0	.	247	Q8TAT5	NEIL3_HUMAN	T	247	ENSP00000264596:K247T	ENSP00000264596:K247T	K	+	2	0	NEIL3	178499661	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	3.990000	0.56965	2.202000	0.70862	0.533000	0.62120	AAG	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361914.1		+	ENST00000264596.3	Missense_Mutation	SNP	4 : 178262667 - 178262667 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	79
LDLRAD2	401944	broad.mit.edu	37	1	22140961	22140961	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22140961G>A	ENST00000344642.2	+	2	343	c.156G>A	c.(154-156)tcG>tcA	p.S52S	LDLRAD2_ENST00000543870.1_Silent_p.S52S	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	52						integral to membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		ACGCCGCATCGCGCAGGTTCT	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	21	20			NA	NA	1		NA											NA				22140961		2189	4283	6472	SO:0001819	synonymous_variant			AL590103	CCDS30624.1	1p36.12	2008-02-05	2005-10-07		ENSG00000187942	ENSG00000187942	401944	401944			32071	protein-coding gene	gene with protein product			low density lipoprotein receptor A domain containing 2		NA		Standard	NM_001013693	NM_001013693	NA	Approved		uc001bfg.1	Q5SZI1	OTTHUMG00000002675	ENST00000344642.2:c.156G>A	1.37:g.22140961G>A		NA	B9EJB3|Q6ZSN5	37	CCDS30624.1																																																																																			LDLRAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007601.1		+	ENST00000344642.2	Silent	SNP	1 : 22140961 - 22140961 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	280	70
DHX9	1660	broad.mit.edu	37	1	182852411	182852411	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182852411C>T	ENST00000367549.3	+	25	3162	c.3052C>T	c.(3052-3054)Cgt>Tgt	p.R1018C	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1018					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CACTGAAGGGCGTAATGCACT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(69;210 1162 3697 13559 39565)							NA				0													140	119	125			NA	NA	1		NA											NA				182852411		1905	4124	6029	SO:0001583	missense			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829	1660	1660		DEAH-boxes	2750	protein-coding gene	gene with protein product	NDH II, RNA helicase A	603115	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin), DEAH (Asp-Glu-Ala-His) box polypeptide 9	LKP, DDX9	NA	8344961, 9111062	Standard	NM_030588	NM_001357	NA	Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.3052C>T	1.37:g.182852411C>T	ENSP00000356520:p.Arg1018Cys	NA	B2RNV4|Q5VY62|Q6PD69|Q99556	37	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265194	0.80358	.	.	ENSG00000135829	ENST00000367549	T	0.61742	0.08	5.38	5.38	0.77491	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.74974	0.3787	M	0.80746	2.51	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.64877	0.93;0.93	T	0.78529	-0.2169	10	0.72032	D	0.01	.	14.0387	0.64660	0.151:0.849:0.0:0.0	.	297;1018	B3KU66;Q08211	.;DHX9_HUMAN	C	1018	ENSP00000356520:R1018C	ENSP00000356520:R1018C	R	+	1	0	DHX9	181119034	1.000000	0.71417	0.992000	0.48379	0.969000	0.65631	4.228000	0.58619	2.501000	0.84356	0.650000	0.86243	CGT	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085522.2		+	ENST00000367549.3	Missense_Mutation	SNP	1 : 182852411 - 182852411 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	415	74
PXDNL	137902	broad.mit.edu	37	8	52323862	52323862	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:52323862C>T	ENST00000356297.4	-	16	2110	c.2010G>A	c.(2008-2010)caG>caA	p.Q670Q	PXDNL_ENST00000543296.1_Silent_p.Q670Q	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	670					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CCCGTATCAGCTGCAGCGTGT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	59	59			NA	NA	8		NA											NA				52323862		1999	4181	6180	SO:0001819	synonymous_variant				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485	137902	137902		Immunoglobulin superfamily / I-set domain containing	26359	protein-coding gene	gene with protein product	polysomal ribonuclease 1 homolog (Xenopus)	615904	peroxidasin homolog-like (Drosophila)		NA	22543864	Standard	NM_144651	NM_144651	NA	Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2010G>A	8.37:g.52323862C>T		NA	B5ME43|B6CGZ3|Q6ZMR2|Q96LH9	37	CCDS47855.1																																																																																			PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377905.1		-	ENST00000356297.4	Silent	SNP	8 : 52323862 - 52323862 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	67	10
TNC	3371	broad.mit.edu	37	9	117826947	117826947	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117826947G>A	ENST00000341037.4	-	10	3594	c.3466C>T	c.(3466-3468)Ctc>Ttc	p.L1156F	TNC_ENST00000535648.1_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.L1156F|TNC_ENST00000537320.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000350763.4_Missense_Mutation_p.L1156F			P24821	TENA_HUMAN	tenascin C	1156	Fibronectin type-III 6.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCAGCAGAGAGCACTGGTGTT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													170	178	175			NA	NA	9		NA											NA				117826947		2203	4300	6503	SO:0001583	missense				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982	3371	3371		Fibrinogen C domain containing, Fibronectin type III domain containing	5318	protein-coding gene	gene with protein product	hexabrachion (tenascin)	187380	hexabrachion (tenascin C, cytotactin), deafness, autosomal dominant 56	HXB, DFNA56	NA	1704365, 1707164, 23936043	Standard	NM_002160	NM_002160	NA	Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000341037.4:c.3466C>T	9.37:g.117826947G>A	ENSP00000339553:p.Leu1156Phe	NA	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.94|18.94	3.728820|3.728820	0.69074|0.69074	.|.	.|.	ENSG00000041982|ENSG00000041982	ENST00000544972|ENST00000350763;ENST00000341037;ENST00000423613	.|T;T;T	.|0.05081	.|3.5;3.5;3.5	5.4|5.4	5.4|5.4	0.78164|0.78164	.|Fibronectin, type III (2);Immunoglobulin-like fold (1);	.|0.000000	.|0.64402	.|D	.|0.000007	T|T	0.30603|0.30603	0.0770|0.0770	M|M	0.85710|0.85710	2.77|2.77	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.957;0.998	.|P;D	.|0.70487	.|0.771;0.969	T|T	0.06899|0.06899	-1.0801|-1.0801	5|10	.|0.72032	.|D	.|0.01	.|.	19.1513|19.1513	0.93491|0.93491	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1156;1156	.|E9PC84;P24821	.|.;TENA_HUMAN	V|F	82|1156	.|ENSP00000265131:L1156F;ENSP00000339553:L1156F;ENSP00000411406:L1156F	.|ENSP00000339553:L1156F	A|L	-|-	2|1	0|0	TNC|TNC	116866768|116866768	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.991000|0.991000	0.79684|0.79684	4.647000|4.647000	0.61418|0.61418	2.539000|2.539000	0.85634|0.85634	0.557000|0.557000	0.71058|0.71058	GCT|CTC	TNC-011	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000397659.2		-	ENST00000341037.4	Missense_Mutation	SNP	9 : 117826947 - 117826947 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1379	203
PCNT	5116	broad.mit.edu	37	21	47851775	47851775	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47851775C>T	ENST00000359568.5	+	38	8504	c.8397C>T	c.(8395-8397)tcC>tcT	p.S2799S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2799					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGGAGAAGTCCCGGGTGGTGG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	50	49			NA	NA	21		NA											NA				47851775		2203	4300	6503	SO:0001819	synonymous_variant			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299	5116	5116			16068	protein-coding gene	gene with protein product	kendrin, Seckel syndrome 4	605925	pericentrin 2 (kendrin)	PCNT2	NA	8812505, 9455477	Standard	NM_006031	NM_006031	NA	Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.8397C>T	21.37:g.47851775C>T		NA	O43152|Q7Z7C9	37	CCDS33592.1																																																																																			PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207336.1		+	ENST00000359568.5	Silent	SNP	21 : 47851775 - 47851775 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	192	41
SIGLEC1	6614	broad.mit.edu	37	20	3673242	3673242	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3673242G>A	ENST00000344754.4	-	15	3955	c.3956C>T	c.(3955-3957)gCa>gTa	p.A1319V	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.A1319V	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1319	Ig-like C2-type 13.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GTAGGCGCCTGCATGAGCCCG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	32	31			NA	NA	20		NA											NA				3673242		2202	4300	6502	SO:0001583	missense			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827	6614	6614		CD molecules, Sialic acid binding Ig-like lectins, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	11127	protein-coding gene	gene with protein product		600751	sialoadhesin	SN	NA	8530048	Standard	NM_023068	XM_006723610	NA	Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3956C>T	20.37:g.3673242G>A	ENSP00000341141:p.Ala1319Val	NA	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	37	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594026	0.66219	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.15017	2.46;2.46	5.71	3.71	0.42584	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.34652	N	0.003789	T	0.38321	0.1036	M	0.85542	2.76	0.09310	N	1	D;D	0.57257	0.971;0.979	P;P	0.60415	0.874;0.742	T	0.19712	-1.0297	10	0.56958	D	0.05	.	9.3211	0.37964	0.0779:0.0:0.7789:0.1432	.	1319;1319	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	V	1319	ENSP00000341141:A1319V;ENSP00000202578:A1319V	ENSP00000202578:A1319V	A	-	2	0	SIGLEC1	3621242	0.039000	0.19947	0.003000	0.11579	0.904000	0.53231	1.963000	0.40452	1.394000	0.46624	0.655000	0.94253	GCA	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077761.2		-	ENST00000344754.4	Missense_Mutation	SNP	20 : 3673242 - 3673242 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	176	31
SERPINA7	6906	broad.mit.edu	37	X	105279214	105279214	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:105279214C>T	ENST00000327674.4	-	2	1120	c.785G>A	c.(784-786)aGc>aAc	p.S262N	SERPINA7_ENST00000487487.1_5'UTR|SERPINA7_ENST00000372563.1_Missense_Mutation_p.S262N			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	262					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	AGCATTCTTGCTGTAGTCCAT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													221	179	193			NA	NA	X		NA											NA				105279214		2203	4300	6503	SO:0001583	missense			M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561	6906	6906		Serine (or cysteine) peptidase inhibitors	11583	protein-coding gene	gene with protein product	thyroxin-binding globulin, thyroxine-binding globulin, alpha-1 antiproteinase, antitrypsin	314200	serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	TBG	NA	24172014	Standard	NM_000354	NM_000354	NA	Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.785G>A	X.37:g.105279214C>T	ENSP00000329374:p.Ser262Asn	NA	D3DUX1	37	CCDS14518.1	.	.	.	.	.	.	.	.	.	.	C	0.114	-1.134247	0.01742	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.83992	-1.79;-1.79	4.63	-0.624	0.11552	Serpin domain (3);	0.446758	0.22838	N	0.055014	T	0.72162	0.3426	L	0.55103	1.725	0.19775	N	0.999957	B	0.06786	0.001	B	0.11329	0.006	T	0.54002	-0.8358	10	0.18276	T	0.48	.	5.4022	0.16303	0.0:0.2925:0.4333:0.2742	.	262	P05543	THBG_HUMAN	N	262	ENSP00000329374:S262N;ENSP00000361644:S262N	ENSP00000329374:S262N	S	-	2	0	SERPINA7	105165870	0.003000	0.15002	0.008000	0.14137	0.029000	0.11900	-0.139000	0.10358	-0.399000	0.07668	-1.008000	0.02478	AGC	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057790.1		-	ENST00000327674.4	Missense_Mutation	SNP	X : 105279214 - 105279214 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	575	166
UNC5CL	222643	broad.mit.edu	37	6	40998490	40998490	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:40998490A>G	ENST00000373164.1	-	6	1184	c.1124T>C	c.(1123-1125)tTg>tCg	p.L375S	UNC5CL_ENST00000244565.3_Missense_Mutation_p.L375S|UNC5CL_ENST00000470102.1_5'UTR			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	375	Interaction with RELA and NFKB1.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTTGGTCTCCAAGCCCTGAGT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	66	67			NA	NA	6		NA											NA				40998490		2203	4300	6503	SO:0001583	missense			BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602	222643	222643			21203	protein-coding gene	gene with protein product	ZU5 and death domain containing				NA	14769797	Standard	NM_173561	NM_173561	NA	Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.1124T>C	6.37:g.40998490A>G	ENSP00000362258:p.Leu375Ser	NA	Q5TGU1	37	CCDS4847.1	.	.	.	.	.	.	.	.	.	.	A	9.847	1.192500	0.21954	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.16897	2.31;2.31	4.79	3.61	0.41365	.	0.393509	0.18792	N	0.131024	T	0.03263	0.0095	N	0.24115	0.695	0.32059	N	0.595991	B	0.30193	0.272	B	0.23275	0.045	T	0.42258	-0.9462	10	0.24483	T	0.36	-7.3284	8.4273	0.32735	0.8019:0.1981:0.0:0.0	.	375	Q8IV45	UN5CL_HUMAN	S	375	ENSP00000244565:L375S;ENSP00000362258:L375S	ENSP00000244565:L375S	L	-	2	0	UNC5CL	41106468	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.410000	0.59774	0.838000	0.34948	-0.316000	0.08728	TTG	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040491.1		-	ENST00000373164.1	Missense_Mutation	SNP	6 : 40998490 - 40998490 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	243	42
HSPA1A	3303	broad.mit.edu	37	6	31785396	31785396	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31785396C>T	ENST00000375651.5	+	1	2106	c.1863C>T	c.(1861-1863)ggC>ggT	p.G621G	HSPA1A_ENST00000608703.1_Silent_p.G456G|HSPA1A_ENST00000458062.2_Silent_p.G530G	NM_005345.5	NP_005336.3	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A	621					anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding			endometrium(1)|ovary(1)|stomach(1)	3						GGCCTGGGGGCTTCGGGGCTC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	66	64			NA	NA	6		NA											NA				31785396		1735	3531	5266	SO:0001819	synonymous_variant			BC002453	CCDS34414.1	6p21.3	2012-10-02	2002-08-29		ENSG00000204389	ENSG00000204389	3303	3303		Heat shock proteins / HSP70	5232	protein-coding gene	gene with protein product		140550	heat shock 70kD protein 1A	HSPA1	NA		Standard		NM_005345	NA	Approved	HSP70-1	uc003nxj.3	P08107	OTTHUMG00000031201	ENST00000375651.5:c.1863C>T	6.37:g.31785396C>T		NA	P19790|Q5JQI4|Q5SP17|Q9UQL9|Q9UQM0	37	CCDS34414.1																																																																																			HSPA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076401.2		+	ENST00000375651.5	Silent	SNP	6 : 31785396 - 31785396 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	612	116
MYO1G	64005	broad.mit.edu	37	7	45010479	45010479	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45010479G>A	ENST00000258787.7	-	8	1162	c.1026C>T	c.(1024-1026)ggC>ggT	p.G342G		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	342	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CTGCAGTGTGGCCCTTCTCTA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	46	48			NA	NA	7		NA											NA				45010479		2203	4300	6503	SO:0001819	synonymous_variant			AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286	64005	64005		Myosins / Myosin superfamily : Class I	13880	protein-coding gene	gene with protein product	minor histocompatibility antigen HA-2	600642			NA		Standard		NM_033054	NA	Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.1026C>T	7.37:g.45010479G>A		NA	Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	37	CCDS34629.1																																																																																			MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341832.2		-	ENST00000258787.7	Silent	SNP	7 : 45010479 - 45010479 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	47
ARRB1	408	broad.mit.edu	37	11	74994458	74994458	+	Missense_Mutation	SNP	C	C	T	rs148019407		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74994458C>T	ENST00000420843.2	-	5	324	c.227G>A	c.(226-228)cGc>cAc	p.R76H	ARRB1_ENST00000360025.3_Missense_Mutation_p.R76H|ARRB1_ENST00000393505.4_Missense_Mutation_p.R76H	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	76	Interaction with CHRM2 (By similarity).|Interaction with SRC (By similarity).				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						CAGGTCCTTGCGAAAGGTCAG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG,HIS/ARG	0,4400		0,0,2200	75	66	69		227,227	4.5	1	11	dbSNP_134	69	1,8585	1.2+/-3.3	0,1,4292	yes	missense,missense	ARRB1	NM_004041.4,NM_020251.3	29,29	0,1,6492	TT,TC,CC	NA	0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	76/419,76/411	74994458	1,12985	2200	4293	6493	SO:0001583	missense			BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486	408	408			711	protein-coding gene	gene with protein product	arrestin 2	107940		ARR1	NA	8486659	Standard	NM_004041	NM_004041	NA	Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.227G>A	11.37:g.74994458C>T	ENSP00000409581:p.Arg76His	NA	B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	37	CCDS44684.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632928	0.67015	0.0	1.16E-4	ENSG00000137486	ENST00000420843;ENST00000393505;ENST00000360025;ENST00000532525	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	4.46	4.46	0.54185	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);Arrestin, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.43500	0.1250	M	0.89968	3.075	0.80722	D	1	P;P	0.51791	0.75;0.948	B;B	0.41571	0.086;0.36	T	0.61182	-0.7114	10	0.62326	D	0.03	-6.2033	14.647	0.68767	0.0:1.0:0.0:0.0	.	76;76	P49407-2;P49407	.;ARRB1_HUMAN	H	76;76;76;71	ENSP00000409581:R76H;ENSP00000377141:R76H;ENSP00000353124:R76H;ENSP00000433171:R71H	ENSP00000353124:R76H	R	-	2	0	ARRB1	74672106	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	7.320000	0.79064	2.299000	0.77371	0.561000	0.74099	CGC	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384092.3		-	ENST00000420843.2	Missense_Mutation	SNP	11 : 74994458 - 74994458 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	325	57
LRRIQ1	84125	broad.mit.edu	37	12	85531680	85531680	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:85531680C>A	ENST00000393217.2	+	19	4323	c.4262C>A	c.(4261-4263)gCt>gAt	p.A1421D		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1421	IQ 3.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GCTCTAGAGGCTATTAAGAAT	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	109	112			NA	NA	12		NA											NA				85531680		1795	4073	5868	SO:0001583	missense			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640	84125	84125			25708	protein-coding gene	gene with protein product					NA	11347906	Standard	NM_032165	NM_001079910	NA	Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4262C>A	12.37:g.85531680C>A	ENSP00000376910:p.Ala1421Asp	NA	Q567P4|Q9BS17|Q9HA36	37	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.784353	0.70222	.	.	ENSG00000133640	ENST00000393217	T	0.55760	0.5	5.56	4.66	0.58398	.	.	.	.	.	T	0.39572	0.1083	N	0.24115	0.695	0.36221	D	0.851972	D	0.53312	0.959	B	0.43623	0.425	T	0.49437	-0.8940	9	0.42905	T	0.14	.	10.6427	0.45602	0.1322:0.7979:0.0:0.0699	.	1421	Q96JM4	LRIQ1_HUMAN	D	1421	ENSP00000376910:A1421D	ENSP00000376910:A1421D	A	+	2	0	LRRIQ1	84055811	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.311000	0.59147	1.333000	0.45449	0.650000	0.86243	GCT	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388249.2		+	ENST00000393217.2	Missense_Mutation	SNP	12 : 85531680 - 85531680 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	510	94
UNC13D	201294	broad.mit.edu	37	17	73831747	73831747	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73831747G>A	ENST00000207549.4	-	19	2087	c.1708C>T	c.(1708-1710)Cgc>Tgc	p.R570C	UNC13D_ENST00000412096.2_Missense_Mutation_p.R570C	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	570	MHD1.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAGCTCATGCGCAGCTGGCAG	0.647		NA							Familial Hemophagocytic Lymphohistiocytosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	33	33			NA	NA	17		NA											NA				73831747		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929	201294	201294			23147	protein-coding gene	gene with protein product		608897			NA		Standard	XM_113950	NM_199242	NA	Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.1708C>T	17.37:g.73831747G>A	ENSP00000207549:p.Arg570Cys	NA	B4DWG9|Q9H7K5	37	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	G	7.150	0.583604	0.13749	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.71222	-0.53;-0.55	4.88	2.84	0.33178	Munc13 homology 1 (1);	0.768652	0.12175	N	0.492658	T	0.57725	0.2073	L	0.34521	1.04	0.41761	D	0.98971	B;P	0.47841	0.0;0.901	B;B	0.40329	0.0;0.326	T	0.48433	-0.9036	10	0.38643	T	0.18	-6.1973	8.9429	0.35740	0.1557:0.6371:0.2072:0.0	.	570;570	Q70J99-3;Q70J99	.;UN13D_HUMAN	C	570	ENSP00000207549:R570C;ENSP00000388093:R570C	ENSP00000207549:R570C	R	-	1	0	UNC13D	71343342	0.998000	0.40836	0.958000	0.39756	0.082000	0.17680	0.612000	0.24283	0.398000	0.25338	-0.424000	0.05967	CGC	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448847.2		-	ENST00000207549.4	Missense_Mutation	SNP	17 : 73831747 - 73831747 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	216	22
SYNJ2	8871	broad.mit.edu	37	6	158516726	158516726	+	Missense_Mutation	SNP	C	C	T	rs140216302		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158516726C>T	ENST00000355585.4	+	27	3896	c.3821C>T	c.(3820-3822)gCc>gTc	p.A1274V	SYNJ2_ENST00000367122.2_Missense_Mutation_p.A1229V|SYNJ2_ENST00000367112.1_Missense_Mutation_p.A359V	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1274	Pro-rich.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGCGTTGAGGCCCCTCCTGTC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	60	59			NA	NA	6		NA											NA				158516726		2203	4300	6503	SO:0001583	missense			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269	8871	8871			11504	protein-coding gene	gene with protein product		609410			NA		Standard		NM_003898	NA	Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.3821C>T	6.37:g.158516726C>T	ENSP00000347792:p.Ala1274Val	NA	Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	37	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.357158	0.24598	.	.	ENSG00000078269	ENST00000367122;ENST00000355585;ENST00000367112	D;D;T	0.92545	-3.04;-3.06;0.87	5.39	2.45	0.29901	.	0.912726	0.09482	N	0.796209	T	0.70254	0.3203	N	0.19112	0.55	0.09310	N	1	B;B	0.25955	0.138;0.138	B;B	0.21151	0.033;0.033	T	0.59037	-0.7529	10	0.35671	T	0.21	.	5.2339	0.15436	0.257:0.5452:0.125:0.0729	.	669;1274	B4DLC4;O15056	.;SYNJ2_HUMAN	V	1229;1274;359	ENSP00000356089:A1229V;ENSP00000347792:A1274V;ENSP00000356079:A359V	ENSP00000347792:A1274V	A	+	2	0	SYNJ2	158436714	0.000000	0.05858	0.031000	0.17742	0.026000	0.11368	0.360000	0.20250	-0.230000	0.09840	0.650000	0.86243	GCC	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042858.2		+	ENST00000355585.4	Missense_Mutation	SNP	6 : 158516726 - 158516726 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	498	94
SLC9A3R1	9368	broad.mit.edu	37	17	72763082	72763082	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72763082G>A	ENST00000262613.5	+	4	960	c.765G>A	c.(763-765)ctG>ctA	p.L255L	SLC9A3R1_ENST00000413388.2_Silent_p.L99L	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1	255					apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of cell proliferation|negative regulation of ERK1 and ERK2 cascade|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption|Wnt receptor signaling pathway	actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle	beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|PDZ domain binding|phosphatase binding|protein self-association			large_intestine(4)	4						TAGGTCCCCTGCCTGTGCCCT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	135	146			NA	NA	17		NA											NA				72763082		2203	4300	6503	SO:0001819	synonymous_variant			AF015926	CCDS11705.1	17q25.1	2014-09-04	2012-03-22		ENSG00000109062	ENSG00000109062	9368	9368			11075	protein-coding gene	gene with protein product		604990	solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1, solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 1, solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1		NA	9314537, 9430655	Standard		NM_004252	NA	Approved	NHERF, EBP50	uc002jlo.4	O14745	OTTHUMG00000178863	ENST00000262613.5:c.765G>A	17.37:g.72763082G>A		NA	O43552|Q86WQ5	37	CCDS11705.1																																																																																			SLC9A3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443671.1		+	ENST00000262613.5	Silent	SNP	17 : 72763082 - 72763082 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	544	127
ZNF638	27332	broad.mit.edu	37	2	71625864	71625864	+	Missense_Mutation	SNP	C	C	T	rs141861784	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71625864C>T	ENST00000409544.1	+	12	3092	c.2462C>T	c.(2461-2463)aCg>aTg	p.T821M	ZNF638_ENST00000264447.4_Missense_Mutation_p.T821M|ZNF638_ENST00000355812.3_Missense_Mutation_p.T821M	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	821					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TCTGTGGTAACGGTAGCTGTT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	194	187			NA	NA	2		NA											NA				71625864		2203	4299	6502	SO:0001583	missense			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292	27332	27332		RNA binding motif (RRM) containing	17894	protein-coding gene	gene with protein product		614349	zinc finger, matrin-like	ZFML	NA	8647861	Standard	NM_014497	NM_014497	NA	Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.2462C>T	2.37:g.71625864C>T	ENSP00000386433:p.Thr821Met	NA	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	37	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025369	0.75390	.	.	ENSG00000075292	ENST00000394137;ENST00000355812;ENST00000264447;ENST00000409544	T;T;T	0.57436	0.4;1.43;1.43	5.22	5.22	0.72569	.	0.342010	0.25244	N	0.032067	T	0.59404	0.2191	N	0.24115	0.695	0.35668	D	0.813052	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.996;0.998;0.926	T	0.68420	-0.5413	10	0.66056	D	0.02	-8.3712	14.1517	0.65389	0.0:1.0:0.0:0.0	.	821;821;821;821	A8K583;Q14966-4;Q14966-3;Q14966	.;.;.;ZN638_HUMAN	M	400;821;821;821	ENSP00000348066:T821M;ENSP00000264447:T821M;ENSP00000386433:T821M	ENSP00000264447:T821M	T	+	2	0	ZNF638	71479372	0.765000	0.28485	1.000000	0.80357	0.947000	0.59692	2.060000	0.41394	2.701000	0.92244	0.585000	0.79938	ACG	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327431.1		+	ENST00000409544.1	Missense_Mutation	SNP	2 : 71625864 - 71625864 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1074	83
OR2B2	81697	broad.mit.edu	37	6	27879845	27879845	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27879845T>C	ENST00000303324.2	-	1	329	c.253A>G	c.(253-255)Ata>Gta	p.I85V		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						GTGTTGCATATGTTTACCAGC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	142	150			NA	NA	6		NA											NA				27879845		2203	4300	6503	SO:0001583	missense			Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131	81697	81697		GPCR / Class A : Olfactory receptors	13966	protein-coding gene	gene with protein product			olfactory receptor, family 2, subfamily B, member 9	OR2B9	NA		Standard		NM_033057	NA	Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.253A>G	6.37:g.27879845T>C	ENSP00000304419:p.Ile85Val	NA	B2RNH2|Q9GZL2|Q9Y299	37	CCDS4641.1	.	.	.	.	.	.	.	.	.	.	T	3.218	-0.160103	0.06502	.	.	ENSG00000168131	ENST00000303324	T	0.00392	7.58	4.52	1.89	0.25635	GPCR, rhodopsin-like superfamily (1);	0.173808	0.26485	U	0.024112	T	0.00109	0.0003	L	0.49699	1.58	0.09310	N	1	B	0.28378	0.209	B	0.26770	0.073	T	0.40961	-0.9535	10	0.87932	D	0	.	5.3596	0.16081	0.1691:0.0:0.3501:0.4808	.	85	Q9GZK3	OR2B2_HUMAN	V	85	ENSP00000304419:I85V	ENSP00000304419:I85V	I	-	1	0	OR2B2	27987824	0.000000	0.05858	0.262000	0.24481	0.015000	0.08874	-2.156000	0.01283	0.821000	0.34540	-0.374000	0.07098	ATA	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040163.1		-	ENST00000303324.2	Missense_Mutation	SNP	6 : 27879845 - 27879845 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	65
ASNS	440	broad.mit.edu	37	7	97486013	97486013	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97486013C>T	ENST00000422745.1	-	7	1084	c.956G>A	c.(955-957)cGt>cAt	p.R319H	ASNS_ENST00000437628.1_Missense_Mutation_p.R257H|ASNS_ENST00000394309.3_Missense_Mutation_p.R340H|ASNS_ENST00000175506.4_Missense_Mutation_p.R340H|ASNS_ENST00000394308.3_Missense_Mutation_p.R340H|ASNS_ENST00000455086.1_Missense_Mutation_p.R257H|ASNS_ENST00000444334.1_Missense_Mutation_p.R319H			P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	340	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TACTGAAGCACGAACTGTTGT	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)							NA				0													67	66	66			NA	NA	7		NA											NA				97486013		2203	4300	6503	SO:0001583	missense			M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	440	440	6.3.5.4		753	protein-coding gene	gene with protein product		108370	asparagine synthetase		NA		Standard	NM_001673, NM_183356	NM_001673	NA	Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000422745.1:c.956G>A	7.37:g.97486013C>T	ENSP00000414901:p.Arg319His	NA	A4D1I8|D6W5R3|P08184|Q15666|Q549T9|Q96HD0	37	CCDS55132.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.547255	0.86022	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000437628;ENST00000394308;ENST00000422745;ENST00000455086;ENST00000444334	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	4.37	4.37	0.52481	Rossmann-like alpha/beta/alpha sandwich fold (1);Asparagine synthase (1);	0.000000	0.85682	D	0.000000	T	0.69124	0.3076	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.76699	-0.2863	10	0.87932	D	0	-7.2549	15.2252	0.73345	0.0:1.0:0.0:0.0	.	340	P08243	ASNS_HUMAN	H	340;340;257;340;319;257;319	ENSP00000175506:R340H;ENSP00000377846:R340H;ENSP00000414379:R257H;ENSP00000377845:R340H;ENSP00000414901:R319H;ENSP00000408472:R257H;ENSP00000406994:R319H	ENSP00000175506:R340H	R	-	2	0	ASNS	97323949	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.756000	0.74919	2.368000	0.80403	0.555000	0.69702	CGT	ASNS-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333642.1		-	ENST00000422745.1	Missense_Mutation	SNP	7 : 97486013 - 97486013 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	74
PCNXL4	64430	broad.mit.edu	37	14	60591898	60591898	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60591898G>A	ENST00000406854.1	+	9	3563	c.3009G>A	c.(3007-3009)ttG>ttA	p.L1003L	PCNXL4_ENST00000406949.1_Silent_p.L769L|PCNXL4_ENST00000317623.4_Silent_p.L769L|PCNXL4_ENST00000535349.1_Silent_p.L210L|PCNXL4_ENST00000404681.2_Silent_p.L1003L					pecanex-like 4 (Drosophila)	NA											NA						GTGGTGTTTTGCCTTGGTCTG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	47	47			NA	NA	14		NA											NA				60591898		2203	4300	6503	SO:0001819	synonymous_variant			AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773	64430	64430			20349	protein-coding gene	gene with protein product			chromosome 14 open reading frame 135	C14orf135	NA		Standard	NM_022495	NM_022495	NA	Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.3009G>A	14.37:g.60591898G>A		NA		37																																																																																				PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000317847.1		+	ENST00000406854.1	Silent	SNP	14 : 60591898 - 60591898 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	95	11
AMBP	259	broad.mit.edu	37	9	116840415	116840415	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116840415C>T	ENST00000265132.3	-	1	337	c.75G>A	c.(73-75)ccG>ccA	p.P25P		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	25					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	p.P25P(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TGTTGTCGGGCGGCGTTGGCA	0.617		NA											C	1	5e-04	NA	NA	2184	0.0017	0.9999	,	,	NA	3e-04	NA	NA	NA	4e-04	0.8999	EXOME	NA	NA	5e-04	SNP								NA				2	Substitution - coding silent(2)	breast(1)|kidney(1)											111	121	117			NA	NA	9		NA											NA				116840415		2203	4300	6503	SO:0001819	synonymous_variant			X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927	259	259		Lipocalins	453	protein-coding gene	gene with protein product	growth-inhibiting protein 19, uristatin, complex-forming glycoprotein heterogeneous in charge, bikunin, inter-alpha-trypsin inhibitor light chain, protein HC, uronic-acid-rich protein, trypstatin	176870		ITI, ITIL	NA	1708673, 1385302	Standard	NM_001633	NM_001633	NA	Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.75G>A	9.37:g.116840415C>T		NA	P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	37	CCDS6800.1																																																																																			AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053758.2		-	ENST00000265132.3	Silent	SNP	9 : 116840415 - 116840415 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	679	122
CDKL1	8814	broad.mit.edu	37	14	50799011	50799011	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50799011C>T	ENST00000216378.2	-	0	1842				CDKL1_ENST00000395834.1_Missense_Mutation_p.R313Q|ATP5S_ENST00000358473.1_Intron	NM_001282236.1	NP_001269165.1	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)	NA						cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	p.R313Q(2)		endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					GTGGTGCTTTCGGCTCTTTCT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	large_intestine(2)											285	278	280			NA	NA	14		NA											NA				50799011		2203	4300	6503	SO:0001624	3_prime_UTR_variant			AF390028	CCDS9699.1, CCDS73637.1	14q21.3	2011-11-04			ENSG00000100490	ENSG00000100490	8814	8814		Cyclin-dependent kinases	1781	protein-coding gene	gene with protein product		603441			NA	1639063, 7595554	Standard		XM_005268157	NA	Approved	KKIALRE	uc010anu.2	Q00532	OTTHUMG00000140290	ENST00000216378.2:c.*367G>A	14.37:g.50799011C>T		NA	Q2M3A4|Q6QUA0|Q8WXQ5	37		.	.	.	.	.	.	.	.	.	.	C	6.829	0.522196	0.13066	.	.	ENSG00000100490	ENST00000395834	T	0.67171	-0.25	5.33	-1.19	0.09585	Protein kinase-like domain (1);	.	.	.	.	T	0.47600	0.1454	L	0.34521	1.04	0.46586	D	0.999114	B	0.02656	0.0	B	0.04013	0.001	T	0.14476	-1.0471	9	0.22109	T	0.4	.	6.9607	0.24595	0.0:0.5581:0.1076:0.3343	.	312	Q00532	CDKL1_HUMAN	Q	313	ENSP00000379176:R313Q	ENSP00000379176:R313Q	R	-	2	0	CDKL1	49868761	0.177000	0.23109	0.103000	0.21229	0.133000	0.20885	-0.075000	0.11431	-0.331000	0.08501	-1.000000	0.02509	CGA	CDKL1-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000382103.1		-	ENST00000216378.2	3'UTR	SNP	14 : 50799011 - 50799011 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	951	191
FAM149A	25854	broad.mit.edu	37	4	187077278	187077278	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187077278G>A	ENST00000502970.1	+	6	926	c.508G>A	c.(508-510)Gtc>Atc	p.V170I	FAM149A_ENST00000389354.5_Missense_Mutation_p.V170I|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000227065.4_Missense_Mutation_p.V170I|FAM149A_ENST00000514153.1_Missense_Mutation_p.V170I|FAM149A_ENST00000503432.1_Missense_Mutation_p.V170I|FAM149A_ENST00000356371.5_Missense_Mutation_p.V461I			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	461								p.V170I(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		GTTTGATCACGTCTGGACAAA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)						G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	120	112	114		508,508	2.8	0.3	4		114	0,8600		0,0,4300	yes	missense,missense	FAM149A	NM_015398.2,NM_001006655.2	29,29	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	benign,benign	170/483,170/483	187077278	1,13005	2203	4300	6503	SO:0001583	missense			AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794	25854	25854			24527	protein-coding gene	gene with protein product					NA		Standard	NM_001006655	NM_015398	NA	Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000502970.1:c.508G>A	4.37:g.187077278G>A	ENSP00000427155:p.Val170Ile	NA	B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	37	CCDS34117.1	.	.	.	.	.	.	.	.	.	.	G	6.974	0.549723	0.13374	2.27E-4	0.0	ENSG00000109794	ENST00000503432;ENST00000356371;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354	T;T;T;T;T;T	0.16196	2.42;2.36;2.42;2.42;2.42;2.42	5.46	2.83	0.33086	.	0.777035	0.12119	N	0.497815	T	0.15522	0.0374	M	0.61703	1.905	0.09310	N	1	P;B;B	0.37500	0.597;0.339;0.304	B;B;B	0.26094	0.066;0.018;0.012	T	0.09335	-1.0679	10	0.36615	T	0.2	-12.3057	9.8554	0.41082	0.2838:0.0:0.7162:0.0	.	461;461;170	A5PLN7-3;A5PLN7;B4DHZ9	.;F149A_HUMAN;.	I	170;461;170;170;170;170	ENSP00000426835:V170I;ENSP00000348732:V461I;ENSP00000227065:V170I;ENSP00000427155:V170I;ENSP00000424380:V170I;ENSP00000374005:V170I	ENSP00000227065:V170I	V	+	1	0	FAM149A	187314272	0.036000	0.19791	0.305000	0.25099	0.089000	0.18198	0.262000	0.18460	0.445000	0.26639	0.650000	0.86243	GTC	FAM149A-006	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361206.1		+	ENST00000502970.1	Missense_Mutation	SNP	4 : 187077278 - 187077278 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	663	81
KIAA0226	9711	broad.mit.edu	37	3	197401903	197401903	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197401903G>T	ENST00000273582.5	-	21	3315	c.2770C>A	c.(2770-2772)Ctg>Atg	p.L924M	KIAA0226_ENST00000296343.5_Missense_Mutation_p.L969M	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	969	Cys-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GTGGCCTCCAGGACGGCGGCT	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(3;167 355 3763 15924)							NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016	9711	9711			28991	protein-coding gene	gene with protein product	RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein	613516			NA	9039502, 19270693, 20826435	Standard	XM_032901	XM_005269374	NA	Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000273582.5:c.2770C>A	3.37:g.197401903G>T	ENSP00000273582:p.Leu924Met	NA	Q96CK5	37	CCDS46987.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.564|8.564	0.878353|0.878353	0.17395|0.17395	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000273582;ENST00000296343|ENST00000413360	.|.	.|.	.|.	5.32|5.32	0.165|0.165	0.14995|0.14995	.|.	0.577690|.	0.14919|.	N|.	0.290777|.	T|T	0.15565|0.15565	0.0375|0.0375	N|N	0.08118|0.08118	0|0	0.20403|0.20403	N|N	0.9999|0.9999	P;P|.	0.45176|.	0.852;0.622|.	P;B|.	0.48400|.	0.576;0.372|.	T|T	0.28038|0.28038	-1.0056|-1.0056	9|5	0.72032|.	D|.	0.01|.	.|.	5.3615|5.3615	0.16091|0.16091	0.3426:0.1396:0.5179:0.0|0.3426:0.1396:0.5179:0.0	.|.	924;969|.	Q92622-2;Q92622|.	.;RUBIC_HUMAN|.	M|H	924;969|930	.|.	ENSP00000273582:L924M|.	L|P	-|-	1|2	2|0	KIAA0226|KIAA0226	198886300|198886300	0.637000|0.637000	0.27216|0.27216	0.071000|0.071000	0.20095|0.20095	0.216000|0.216000	0.24613|0.24613	0.920000|0.920000	0.28705|0.28705	0.032000|0.032000	0.15435|0.15435	0.591000|0.591000	0.81541|0.81541	CTG|CCT	KIAA0226-001	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340174.3		-	ENST00000273582.5	Missense_Mutation	SNP	3 : 197401903 - 197401903 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	534	94
TEX14	56155	broad.mit.edu	37	17	56651552	56651552	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56651552C>A	ENST00000389934.3	-	23	3616	c.3499G>T	c.(3499-3501)Gac>Tac	p.D1167Y	TEX14_ENST00000240361.8_Missense_Mutation_p.D1173Y|TEX14_ENST00000349033.5_Missense_Mutation_p.D1127Y	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	1173						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCATACATGTCTTTCTCTTTC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													338	279	299			NA	NA	17		NA											NA				56651552		2203	4300	6503	SO:0001583	missense			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101	56155	56155			11737	protein-coding gene	gene with protein product	cancer/testis antigen 113	605792	testis expressed sequence 14		NA	11279525, 12711554	Standard		NM_031272	NA	Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000389934.3:c.3499G>T	17.37:g.56651552C>A	ENSP00000374584:p.Asp1167Tyr	NA	A6NH19|Q7RTP3|Q8ND97|Q9BXT9	37	CCDS32693.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482421	0.63962	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.23552	1.9;1.9;1.9	5.51	4.53	0.55603	.	0.155857	0.45126	D	0.000384	T	0.36193	0.0958	L	0.32530	0.975	0.28234	N	0.92599	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.71656	0.943;0.972;0.974	T	0.12604	-1.0541	10	0.87932	D	0	.	9.7481	0.40459	0.0:0.9023:0.0:0.0977	.	1173;1127;1167	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	Y	1173;1167;1127	ENSP00000240361:D1173Y;ENSP00000374584:D1167Y;ENSP00000268910:D1127Y	ENSP00000240361:D1173Y	D	-	1	0	TEX14	54006551	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	1.067000	0.30616	1.433000	0.47394	0.655000	0.94253	GAC	TEX14-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445444.1		-	ENST00000389934.3	Missense_Mutation	SNP	17 : 56651552 - 56651552 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	438	75
FBXO45	200933	broad.mit.edu	37	3	196304505	196304505	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196304505C>T	ENST00000311630.6	+	2	797	c.500C>T	c.(499-501)aCt>aTt	p.T167I	FBXO45_ENST00000440469.1_5'UTR	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	167	B30.2/SPRY.				nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	cell junction|postsynaptic membrane|presynaptic membrane	protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		CCTCTGGGCACTGTGGCAGTG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	42	42			NA	NA	3		NA											NA				196304505		1949	4144	6093	SO:0001583	missense			AK025697	CCDS46985.1	3q29	2008-02-05			ENSG00000174013	ENSG00000174013	200933	200933		F-boxes /  other	29148	protein-coding gene	gene with protein product		609112			NA		Standard		NM_001105573	NA	Approved	Fbx45	uc010iai.3	P0C2W1	OTTHUMG00000155571	ENST00000311630.6:c.500C>T	3.37:g.196304505C>T	ENSP00000310332:p.Thr167Ile	NA	A6NF90|D3DXB5	37	CCDS46985.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688765	0.88639	.	.	ENSG00000174013	ENST00000311630	T	0.60424	0.19	4.95	4.95	0.65309	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.098281	0.64402	D	0.000001	D	0.82655	0.5084	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87388	0.2361	10	0.87932	D	0	-20.9781	18.4427	0.90673	0.0:1.0:0.0:0.0	.	167	P0C2W1	FBSP1_HUMAN	I	167	ENSP00000310332:T167I	ENSP00000310332:T167I	T	+	2	0	FBXO45	197788902	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.099000	0.76981	2.608000	0.88229	0.456000	0.33151	ACT	FBXO45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340687.2		+	ENST00000311630.6	Missense_Mutation	SNP	3 : 196304505 - 196304505 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	129	24
SYT7	9066	broad.mit.edu	37	11	61290707	61290707	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61290707C>T	ENST00000542836.1	-	9	1096	c.1079G>A	c.(1078-1080)cGg>cAg	p.R360Q	SYT7_ENST00000542670.1_Missense_Mutation_p.R524Q|SYT7_ENST00000540677.1_Missense_Mutation_p.R391Q|SYT7_ENST00000539008.1_Missense_Mutation_p.R599Q|SYT7_ENST00000535826.1_Missense_Mutation_p.R435Q|SYT7_ENST00000263846.4_Missense_Mutation_p.R316Q			O43581	SYT7_HUMAN	synaptotagmin VII	316	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTTCTCCACCCGCTTGTCCTT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													209	164	179			NA	NA	11		NA											NA				61290707		2202	4299	6501	SO:0001583	missense			AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347	9066	9066		Synaptotagmins	11514	protein-coding gene	gene with protein product		604146	prostate cancer associated protein 7	PCANAP7	NA	9615227	Standard	NM_004200	NM_001252065	NA	Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000542836.1:c.1079G>A	11.37:g.61290707C>T	ENSP00000444568:p.Arg360Gln	NA	Q08AH6	37		.	.	.	.	.	.	.	.	.	.	C	26.0	4.697219	0.88830	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826	T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	4.53	4.53	0.55603	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.83101	0.5181	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.65874	0.925;0.939	D	0.85729	0.1330	10	0.87932	D	0	.	17.8501	0.88744	0.0:1.0:0.0:0.0	.	391;316	F5GZU9;O43581	.;SYT7_HUMAN	Q	316;391;599;360;524;435	ENSP00000263846:R316Q;ENSP00000444201:R391Q;ENSP00000439694:R599Q;ENSP00000444568:R360Q;ENSP00000444019:R524Q;ENSP00000437720:R435Q	ENSP00000263846:R316Q	R	-	2	0	SYT7	61047283	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.897000	0.69831	2.524000	0.85096	0.561000	0.74099	CGG	SYT7-008	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000398738.1		-	ENST00000542836.1	Missense_Mutation	SNP	11 : 61290707 - 61290707 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	564	98
ZNF76	7629	broad.mit.edu	37	6	35254112	35254112	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35254112T>C	ENST00000373953.3	+	4	434	c.168T>C	c.(166-168)ttT>ttC	p.F56F	ZNF76_ENST00000440666.2_Intron|ZNF76_ENST00000339411.5_Silent_p.F56F	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	56	3 X 12 AA approximate repeats.				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CTCTCTCCTTTGAGGATGGTC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(52;92 1039 20612 23956 34676)							NA				0													101	81	88			NA	NA	6		NA											NA				35254112		2203	4300	6503	SO:0001819	synonymous_variant			M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029	7629	7629		Zinc fingers, C2H2-type	13149	protein-coding gene	gene with protein product		194549	zinc finger protein 76 (expressed in testis)	D6S229E	NA	1427894	Standard	NM_003427	XM_005249364	NA	Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.168T>C	6.37:g.35254112T>C		NA	Q9BQB2	37	CCDS4801.1																																																																																			ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040279.2		+	ENST00000373953.3	Silent	SNP	6 : 35254112 - 35254112 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	264	40
PWWP2B	170394	broad.mit.edu	37	10	134219225	134219225	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134219225C>T	ENST00000305233.5	+	2	1280	c.1221C>T	c.(1219-1221)ctC>ctT	p.L407L	PWWP2B_ENST00000368609.4_Silent_p.L407L	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	407										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		TGGCTTTTCTCGTCAGCTGCC	0.657		NA											C	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.9547	EXOME	NA	NA	4e-04	SNP								NA				0													43	39	41			NA	NA	10		NA											NA				134219225		2200	4296	6496	SO:0001819	synonymous_variant			AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813	170394	170394			25150	protein-coding gene	gene with protein product			PWWP domain containing 2	PWWP2	NA		Standard	NM_138499	NM_001098637	NA	Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.1221C>T	10.37:g.134219225C>T		NA	A6NM90|B5MDQ1|Q5SZI0|Q6ZQX5|Q96F43	37	CCDS7667.2																																																																																			PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051075.3		+	ENST00000305233.5	Silent	SNP	10 : 134219225 - 134219225 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	388	80
PRUNE2	158471	broad.mit.edu	37	9	79323618	79323618	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79323618G>A	ENST00000376718.3	-	8	3695	c.3572C>T	c.(3571-3573)gCc>gTc	p.A1191V	PRUNE2_ENST00000428286.1_Missense_Mutation_p.A832V	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1191					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTCATCAGAGGCAGGGAGCTC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	85	88			NA	NA	9		NA											NA				79323618		1568	3582	5150	SO:0001583	missense			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772	158471	158471			25209	protein-coding gene	gene with protein product	olfaxin	610691	chromosome 9 open reading frame 65, KIAA0367	C9orf65, KIAA0367	NA	16288218	Standard	NM_138818	NM_015225	NA	Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.3572C>T	9.37:g.79323618G>A	ENSP00000365908:p.Ala1191Val	NA	B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	37	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	3.673	-0.067125	0.07273	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.51574	0.7;0.71	6.08	0.994	0.19832	.	1.282690	0.05135	N	0.493283	T	0.35189	0.0923	L	0.27053	0.805	0.09310	N	1	B	0.15141	0.012	B	0.15052	0.012	T	0.31971	-0.9924	10	0.59425	D	0.04	-0.1287	5.8732	0.18814	0.3438:0.0:0.537:0.1192	.	1191	Q8WUY3	PRUN2_HUMAN	V	1191;832;1190	ENSP00000365908:A1191V;ENSP00000397425:A832V	ENSP00000365908:A1191V	A	-	2	0	PRUNE2	78513438	0.003000	0.15002	0.009000	0.14445	0.031000	0.12232	0.395000	0.20850	0.142000	0.18901	-0.150000	0.13652	GCC	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052730.2		-	ENST00000376718.3	Missense_Mutation	SNP	9 : 79323618 - 79323618 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	70
FGD4	121512	broad.mit.edu	37	12	32772752	32772752	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32772752C>A	ENST00000525053.1	+	11	1879	c.1795C>A	c.(1795-1797)Cca>Aca	p.P599T	FGD4_ENST00000266482.3_Missense_Mutation_p.P239T|FGD4_ENST00000531134.1_Missense_Mutation_p.P572T|FGD4_ENST00000381025.3_Missense_Mutation_p.P239T|FGD4_ENST00000546442.1_Missense_Mutation_p.P394T|FGD4_ENST00000534526.2_Missense_Mutation_p.P624T|FGD4_ENST00000427716.2_Missense_Mutation_p.P487T			Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	487					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TGAAGAATATCCACATACTTT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	111	113			NA	NA	12		NA											NA				32772752		2203	4300	6503	SO:0001583	missense			AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132	121512	121512		Zinc fingers, FYVE domain containing, Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	19125	protein-coding gene	gene with protein product		611104	FGD1 family, member 4		NA	11527409	Standard	NM_139241	NM_139241	NA	Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000525053.1:c.1795C>A	12.37:g.32772752C>A	ENSP00000433666:p.Pro599Thr	NA	Q6ULS2|Q8TCP6	37		.	.	.	.	.	.	.	.	.	.	C	18.52	3.641317	0.67244	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000266482;ENST00000546442;ENST00000525053;ENST00000381025	D;D;D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37;-2.37;-2.37	5.55	5.55	0.83447	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.49916	D	0.000131	D	0.94466	0.8219	M	0.75264	2.295	0.80722	D	1	B;P;D;D	0.89917	0.41;0.616;1.0;1.0	P;P;D;D	0.85130	0.579;0.579;0.997;0.995	D	0.94264	0.7505	10	0.56958	D	0.05	-14.0	19.5071	0.95124	0.0:1.0:0.0:0.0	.	599;572;487;239	E9PJX4;B7Z493;Q96M96;G3XA97	.;.;FGD4_HUMAN;.	T	624;572;487;239;394;599;239	ENSP00000449273:P624T;ENSP00000431323:P572T;ENSP00000394487:P487T;ENSP00000266482:P239T;ENSP00000446695:P394T;ENSP00000433666:P599T;ENSP00000370413:P239T	ENSP00000266482:P239T	P	+	1	0	FGD4	32664019	1.000000	0.71417	0.970000	0.41538	0.987000	0.75469	7.251000	0.78297	2.590000	0.87494	0.655000	0.94253	CCA	FGD4-011	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000390888.1		+	ENST00000525053.1	Missense_Mutation	SNP	12 : 32772752 - 32772752 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	503	95
INTS8	55656	broad.mit.edu	37	8	95871751	95871751	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95871751G>A	ENST00000523731.1	+	16	2100	c.1967G>A	c.(1966-1968)cGt>cAt	p.R656H	INTS8_ENST00000520845.1_3'UTR|INTS8_ENST00000447247.1_Missense_Mutation_p.R656H	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	656					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					ATTCCTCTTCGTCAAGTTATA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	0,4406		0,0,2203	160	145	150		1967	5.8	1	8		150	1,8597	1.2+/-3.3	0,1,4298	no	missense	INTS8	NM_017864.2	29	0,1,6501	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	656/996	95871751	1,13003	2203	4299	6502	SO:0001583	missense			AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941	55656	55656			26048	protein-coding gene	gene with protein product		611351	chromosome 8 open reading frame 52	C8orf52	NA	16239144	Standard	NM_017864	NM_017864	NA	Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.1967G>A	8.37:g.95871751G>A	ENSP00000430338:p.Arg656His	NA	B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	37	CCDS34925.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.179313|5.179313	0.94846|0.94846	0.0|0.0	1.16E-4|1.16E-4	ENSG00000164941|ENSG00000164941	ENST00000523731;ENST00000447247|ENST00000520526	.|.	.|.	.|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75946|0.75946	0.3919|0.3919	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.83275|.	0.994;0.996|.	T|T	0.73052|0.73052	-0.4104|-0.4104	9|5	0.87932|.	D|.	0|.	-0.2176|-0.2176	20.0175|20.0175	0.97485|0.97485	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	656;656|.	Q75QN2;Q75QN2-2|.	INT8_HUMAN;.|.	H|I	656|478	.|.	ENSP00000343274:R656H|.	R|V	+|+	2|1	0|0	INTS8|INTS8	95940927|95940927	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.230000|9.230000	0.95299|0.95299	2.730000|2.730000	0.93505|0.93505	0.650000|0.650000	0.86243|0.86243	CGT|GTC	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379794.1		+	ENST00000523731.1	Missense_Mutation	SNP	8 : 95871751 - 95871751 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	274	45
PCYOX1	51449	broad.mit.edu	37	2	70502729	70502729	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70502729G>T	ENST00000264441.5	+	5	806	c.790G>T	c.(790-792)Gca>Tca	p.A264S	PCYOX1_ENST00000545138.1_Missense_Mutation_p.A186S|PCYOX1_ENST00000505044.2_Missense_Mutation_p.A187S|PCYOX1_ENST00000433351.2_Missense_Mutation_p.A264S			Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	264					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						GCTTCTGCAGGCATCCAAAAG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	112	117			NA	NA	2		NA											NA				70502729		2203	4300	6503	SO:0001583	missense			AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	51449	51449	1.8.3.5		20588	protein-coding gene	gene with protein product		610995			NA	10585463, 12186880	Standard	NM_016297	NM_016297	NA	Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000264441.5:c.790G>T	2.37:g.70502729G>T	ENSP00000264441:p.Ala264Ser	NA	B2RB14|O94982|Q8N4N5|Q96QM8	37		.	.	.	.	.	.	.	.	.	.	G	10.99	1.506898	0.26949	.	.	ENSG00000116005	ENST00000505044;ENST00000414812;ENST00000433351;ENST00000264441;ENST00000545138	T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5	5.3	2.28	0.28536	Prenylcysteine lyase (1);	0.195793	0.53938	D	0.000050	T	0.08537	0.0212	L	0.34521	1.04	0.33521	D	0.592328	B;B	0.25667	0.037;0.131	B;B	0.25405	0.06;0.038	T	0.24368	-1.0162	10	0.07644	T	0.81	-9.6889	9.1513	0.36965	0.0775:0.0:0.6513:0.2712	.	246;264	B7Z8A2;Q9UHG3	.;PCYOX_HUMAN	S	187;187;264;264;186	ENSP00000441566:A187S;ENSP00000413178:A187S;ENSP00000387654:A264S;ENSP00000264441:A264S;ENSP00000439916:A186S	ENSP00000264441:A264S	A	+	1	0	PCYOX1	70356233	1.000000	0.71417	0.704000	0.30370	0.914000	0.54420	2.088000	0.41663	0.803000	0.34113	0.563000	0.77884	GCA	PCYOX1-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000331593.2		+	ENST00000264441.5	Missense_Mutation	SNP	2 : 70502729 - 70502729 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	389	123
LZTS2	84445	broad.mit.edu	37	10	102763691	102763691	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102763691G>A	ENST00000370220.1	+	2	3899	c.836G>A	c.(835-837)aGc>aAc	p.S279N	LZTS2_ENST00000370223.3_Missense_Mutation_p.S279N			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	279	Required for centrosomal localization (By similarity).|Ser-rich.				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		TCCTCCTCCAGCAAGAGCACA	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(8;38 437 13604 19902 37640)							NA				0													25	31	29			NA	NA	10		NA											NA				102763691		2198	4295	6493	SO:0001583	missense			AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816	84445	84445			29381	protein-coding gene	gene with protein product		610454			NA	11347906, 11709705	Standard	XM_046743	NM_032429	NA	Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.836G>A	10.37:g.102763691G>A	ENSP00000359240:p.Ser279Asn	NA	B1AL14|D3DR72|Q8N3I0|Q96J79|Q96JL2	37	CCDS7507.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769278	0.69992	.	.	ENSG00000107816	ENST00000370223;ENST00000315797;ENST00000370220	T;T	0.51071	0.72;0.72	5.01	4.09	0.47781	.	0.041017	0.85682	D	0.000000	T	0.30230	0.0758	N	0.20685	0.6	0.49915	D	0.999835	B	0.25904	0.137	B	0.21151	0.033	T	0.08452	-1.0721	9	.	.	.	-17.0117	12.8199	0.57688	0.0808:0.0:0.9192:0.0	.	279	Q9BRK4	LZTS2_HUMAN	N	279	ENSP00000359243:S279N;ENSP00000359240:S279N	.	S	+	2	0	LZTS2	102753681	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.131000	0.64751	2.467000	0.83353	0.561000	0.74099	AGC	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049872.1		+	ENST00000370220.1	Missense_Mutation	SNP	10 : 102763691 - 102763691 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	449	99
NOTCH3	4854	broad.mit.edu	37	19	15276713	15276713	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15276713C>T	ENST00000263388.2	-	30	5627	c.5552G>A	c.(5551-5553)cGt>cAt	p.R1851H		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1851					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGCATCAGCACGGGCATAACG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	46	50			NA	NA	19		NA											NA				15276713		2203	4300	6503	SO:0001583	missense			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181	4854	4854		Ankyrin repeat domain containing	7883	protein-coding gene	gene with protein product		600276	Notch (Drosophila) homolog 3, Notch homolog 3 (Drosophila)	CADASIL	NA	7835890	Standard	NM_000435	NM_000435	NA	Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5552G>A	19.37:g.15276713C>T	ENSP00000263388:p.Arg1851His	NA	Q9UEB3|Q9UPL3|Q9Y6L8	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	31	5.098280	0.94197	.	.	ENSG00000074181	ENST00000263388	T	0.62639	0.01	5.36	5.36	0.76844	Ankyrin repeat-containing domain (4);	0.000000	0.29684	N	0.011477	T	0.66317	0.2777	N	0.12443	0.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72701	-0.4214	10	0.87932	D	0	.	18.0231	0.89261	0.0:1.0:0.0:0.0	.	1851	Q9UM47	NOTC3_HUMAN	H	1851	ENSP00000263388:R1851H	ENSP00000263388:R1851H	R	-	2	0	NOTCH3	15137713	1.000000	0.71417	0.998000	0.56505	0.746000	0.42486	7.557000	0.82243	2.790000	0.95986	0.655000	0.94253	CGT	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465714.1		-	ENST00000263388.2	Missense_Mutation	SNP	19 : 15276713 - 15276713 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	186	21
MPI	4351	broad.mit.edu	37	15	75190002	75190002	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75190002T>C	ENST00000352410.4	+	8	1270	c.1203T>C	c.(1201-1203)aaT>aaC	p.N401N	MPI_ENST00000563786.1_Silent_p.N381N|MPI_ENST00000535694.1_Silent_p.N351N|MPI_ENST00000566377.1_3'UTR|MPI_ENST00000323744.6_Silent_p.N340N			P34949	MPI_HUMAN	mannose phosphate isomerase	401					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						TTGGGGCCAATGAGAGTGTCT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													192	167	175			NA	NA	15		NA											NA				75190002		2197	4295	6492	SO:0001819	synonymous_variant				CCDS10272.1, CCDS73756.1, CCDS73757.1, CCDS73758.1	15q24.1	2013-09-19			ENSG00000178802	ENSG00000178802	4351	4351	5.3.1.8		7216	protein-coding gene	gene with protein product	mannose-6-phosphate isomerase	154550			NA		Standard		NM_002435	NA	Approved		uc002azc.1	P34949	OTTHUMG00000142826	ENST00000352410.4:c.1203T>C	15.37:g.75190002T>C		NA	A8K8K9|Q96AB0	37	CCDS10272.1																																																																																			MPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286418.4		+	ENST00000352410.4	Silent	SNP	15 : 75190002 - 75190002 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	507	93
ADAMTS7	11173	broad.mit.edu	37	15	79064172	79064172	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79064172C>A	ENST00000388820.4	-	15	2342		c.e15-1		ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	NA					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TCCACATACCCTGTCAGCCAA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	30	33			NA	NA	15		NA											NA				79064172		2196	4293	6489	SO:0001630	splice_region_variant			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378	11173	11173		ADAM metallopeptidases with thrombospondin type 1 motif	223	protein-coding gene	gene with protein product	COMPase, a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein	605009	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7		NA	10464288	Standard	NM_014272	NM_014272	NA	Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2132-1G>T	15.37:g.79064172C>A		NA	Q14F51|Q6P7J9	37	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748845	0.49257	.	.	ENSG00000136378	ENST00000388820	.	.	.	4.03	4.03	0.46877	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0564	0.71917	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAMTS7	76851227	1.000000	0.71417	0.998000	0.56505	0.443000	0.32047	7.453000	0.80700	2.106000	0.64143	0.433000	0.28618	.	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421331.1	Intron	-	ENST00000388820.4	Splice_Site	SNP	15 : 79064172 - 79064172 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	181	31
CPS1	1373	broad.mit.edu	37	2	211481151	211481151	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211481151T>A	ENST00000233072.5	+	21	2769	c.2573T>A	c.(2572-2574)aTt>aAt	p.I858N	CPS1_ENST00000430249.2_Missense_Mutation_p.I864N|CPS1_ENST00000451903.2_Missense_Mutation_p.I407N	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	858					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TGGCAGGCCATTGATGACAAC	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	151	152			NA	NA	2		NA											NA				211481151		2203	4300	6503	SO:0001583	missense			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	1373	1373	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	carbamoyl-phosphate synthetase 1, mitochondrial		NA		Standard		NM_001122633	NA	Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2573T>A	2.37:g.211481151T>A	ENSP00000233072:p.Ile858Asn	NA	B7Z818|O43774|Q7Z5I5	37	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.786943	0.49997	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.96940	-4.18;-4.18;-4.18	5.41	5.41	0.78517	Carbamoyl-phosphate synthetase, large subunit, oligomerisation (3);	0.354656	0.29900	N	0.010913	D	0.95178	0.8437	M	0.62088	1.915	0.34698	D	0.726462	P;P	0.43477	0.808;0.537	B;B	0.40285	0.325;0.325	D	0.99694	1.1002	10	0.87932	D	0	-3.1683	15.7337	0.77825	0.0:0.0:0.0:1.0	.	868;858	Q59HF8;P31327	.;CPSM_HUMAN	N	864;866;858;407	ENSP00000402608:I864N;ENSP00000233072:I858N;ENSP00000406136:I407N	ENSP00000233072:I858N	I	+	2	0	CPS1	211189396	0.999000	0.42202	0.603000	0.28903	0.669000	0.39330	7.400000	0.79949	2.169000	0.68431	0.533000	0.62120	ATT	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256569.5		+	ENST00000233072.5	Missense_Mutation	SNP	2 : 211481151 - 211481151 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	644	98
PDLIM2	64236	broad.mit.edu	37	8	22439020	22439020	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22439020G>A	ENST00000265810.4	+	2	337	c.222G>A	c.(220-222)tcG>tcA	p.S74S	PDLIM2_ENST00000308354.7_Silent_p.S324S|PDLIM2_ENST00000409141.1_Silent_p.S74S|PDLIM2_ENST00000397760.4_Silent_p.S74S|PDLIM2_ENST00000339162.7_Silent_p.S74S|PDLIM2_ENST00000409417.1_Silent_p.S74S|PDLIM2_ENST00000397761.2_Silent_p.S74S	NM_176871.3	NP_789847.1	Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	74	PDZ.					actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		AGAGCCCCTCGCCCCTGCGGC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	50	52			NA	NA	8		NA											NA				22439020		2202	4300	6502	SO:0001819	synonymous_variant			AY007729	CCDS34860.1, CCDS6032.1, CCDS34861.1, CCDS6032.2	8p21.3	2012-06-27			ENSG00000120913	ENSG00000120913	64236	64236			13992	protein-coding gene	gene with protein product		609722			NA		Standard		NM_021630	NA	Approved		uc003xby.4	Q96JY6	OTTHUMG00000164270	ENST00000265810.4:c.222G>A	8.37:g.22439020G>A		NA	D3DSR5|Q7Z584|Q86WM8|Q8WZ29|Q9H4L9|Q9H7I2	37	CCDS34860.1																																																																																			PDLIM2-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334169.2		+	ENST00000265810.4	Silent	SNP	8 : 22439020 - 22439020 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	148	17
NRP2	8828	broad.mit.edu	37	2	206608031	206608031	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206608031C>T	ENST00000360409.3	+	9	2187	c.1396C>T	c.(1396-1398)Cgc>Tgc	p.R466C	NRP2_ENST00000412873.2_Missense_Mutation_p.R466C|NRP2_ENST00000355117.4_Missense_Mutation_p.R466C|NRP2_ENST00000417189.1_Missense_Mutation_p.R466C|NRP2_ENST00000272849.3_Missense_Mutation_p.R466C|NRP2_ENST00000357785.5_Missense_Mutation_p.R466C|NRP2_ENST00000357118.4_Missense_Mutation_p.R466C|NRP2_ENST00000540178.1_Missense_Mutation_p.R466C|NRP2_ENST00000540841.1_Missense_Mutation_p.R466C	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	466	F5/8 type C 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CAGTGCAGCCCGCCTGGTTAG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	78	74			NA	NA	2		NA											NA				206608031		2203	4300	6503	SO:0001583	missense			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257	8828	8828			8005	protein-coding gene	gene with protein product		602070			NA	9529250, 9331348	Standard		NM_003872	NA	Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000360409.3:c.1396C>T	2.37:g.206608031C>T	ENSP00000353582:p.Arg466Cys	NA	O14820|O14821|Q53TQ4|Q53TS3|Q9H2D4|Q9H2D5|Q9H2E3|Q9H2E4	37	CCDS2364.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432000	0.83776	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	D;D;D;D;D;D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99	5.96	5.96	0.96718	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99390	0.9785	H	0.95850	3.73	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.98619	1.0666	10	0.87932	D	0	-30.6319	20.3928	0.98949	0.0:1.0:0.0:0.0	.	466;466;466;466;466;466	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	C	466	ENSP00000353582:R466C;ENSP00000439658:R466C;ENSP00000439261:R466C;ENSP00000347238:R466C;ENSP00000387519:R466C;ENSP00000349632:R466C;ENSP00000350432:R466C;ENSP00000407626:R466C;ENSP00000272849:R466C	ENSP00000272849:R466C	R	+	1	0	NRP2	206316276	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	3.910000	0.56371	2.813000	0.96785	0.655000	0.94253	CGC	NRP2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256392.1		+	ENST00000360409.3	Missense_Mutation	SNP	2 : 206608031 - 206608031 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1241	303
FREM2	341640	broad.mit.edu	37	13	39263085	39263085	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39263085G>A	ENST00000280481.7	+	1	1820	c.1604G>A	c.(1603-1605)cGc>cAc	p.R535H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	535					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTGGTGCTTCGCATGGTGGAT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	38	42			NA	NA	13		NA											NA				39263085		2203	4300	6503	SO:0001583	missense			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893	341640	341640			25396	protein-coding gene	gene with protein product		608945			NA	15345741	Standard	NM_207361	NM_207361	NA	Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1604G>A	13.37:g.39263085G>A	ENSP00000280481:p.Arg535His	NA	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120862	0.56613	.	.	ENSG00000150893	ENST00000280481	T	0.76316	-1.01	5.4	4.54	0.55810	.	0.055337	0.64402	D	0.000001	D	0.86138	0.5861	M	0.85630	2.765	0.80722	D	1	D	0.64830	0.994	P	0.54856	0.762	D	0.88654	0.3184	10	0.72032	D	0.01	.	15.4664	0.75403	0.0:0.0:0.8601:0.1399	.	535	Q5SZK8	FREM2_HUMAN	H	535	ENSP00000280481:R535H	ENSP00000280481:R535H	R	+	2	0	FREM2	38161085	1.000000	0.71417	0.975000	0.42487	0.718000	0.41266	3.443000	0.52907	1.267000	0.44247	0.561000	0.74099	CGC	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044599.2		+	ENST00000280481.7	Missense_Mutation	SNP	13 : 39263085 - 39263085 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	133	18
RYR3	6263	broad.mit.edu	37	15	33926918	33926918	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33926918A>G	ENST00000389232.4	+	25	3229	c.3159A>G	c.(3157-3159)ccA>ccG	p.P1053P	RYR3_ENST00000415757.3_Silent_p.P1053P	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1053	4 X approximate repeats.|B30.2/SPRY 2.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACATTGAGCCATCAGACCAAG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	154	157			NA	NA	15		NA											NA				33926918		1917	4134	6051	SO:0001819	synonymous_variant				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838	6263	6263		Ion channels / Ryanodine receptors, EF-hand domain containing	10485	protein-coding gene	gene with protein product		180903			NA	8276408	Standard		NM_001036	NA	Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.3159A>G	15.37:g.33926918A>G		NA	O15175|Q15412	37	CCDS45210.1																																																																																			RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417514.1		+	ENST00000389232.4	Silent	SNP	15 : 33926918 - 33926918 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	548	46
ME1	4199	broad.mit.edu	37	6	83937109	83937109	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83937109C>T	ENST00000369705.3	-	11	1336	c.1220G>A	c.(1219-1221)aGt>aAt	p.S407N	ME1_ENST00000541327.1_Missense_Mutation_p.S241N|ME1_ENST00000543031.1_Missense_Mutation_p.S332N	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	407					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	AGTTGGATTACTCAAAGCAAA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	78	79			NA	NA	6		NA											NA				83937109		2203	4300	6503	SO:0001583	missense			X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	4199	4199	1.1.1.40		6983	protein-coding gene	gene with protein product		154250			NA	8187880	Standard		NM_002395	NA	Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.1220G>A	6.37:g.83937109C>T	ENSP00000358719:p.Ser407Asn	NA	Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	37	CCDS34492.1	.	.	.	.	.	.	.	.	.	.	C	34	5.402015	0.96030	.	.	ENSG00000065833	ENST00000369705;ENST00000540036;ENST00000541327;ENST00000543031	T;T;T	0.45276	0.9;0.9;0.9	5.96	5.96	0.96718	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.79650	0.4482	H	0.99600	4.65	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.87963	0.2731	10	0.87932	D	0	-25.9458	20.4144	0.99026	0.0:1.0:0.0:0.0	.	407	P48163	MAOX_HUMAN	N	407;67;241;332	ENSP00000358719:S407N;ENSP00000439912:S241N;ENSP00000446114:S332N	ENSP00000358719:S407N	S	-	2	0	ME1	83993828	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.717000	0.84732	2.833000	0.97629	0.555000	0.69702	AGT	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041350.1		-	ENST00000369705.3	Missense_Mutation	SNP	6 : 83937109 - 83937109 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	12
DAPK1	1612	broad.mit.edu	37	9	90219966	90219966	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:90219966C>T	ENST00000491893.1	+	2	233	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W	DAPK1_ENST00000358077.5_Missense_Mutation_p.R54W|DAPK1_ENST00000469640.2_Missense_Mutation_p.R54W|DAPK1_ENST00000472284.1_Missense_Mutation_p.R54W|DAPK1_ENST00000408954.3_Missense_Mutation_p.R54W			P53355	DAPK1_HUMAN	death-associated protein kinase 1	54	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GTCCAGCCGGCGGGGTGTGAG	0.557		NA							Chronic Lymphocytic Leukemia, Familial Clustering of					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	55	53			NA	NA	9		NA											NA				90219966		2180	4292	6472	SO:0001583	missense	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730	1612	1612		Ankyrin repeat domain containing	2674	protein-coding gene	gene with protein product		600831			NA	8530096	Standard	NM_004938	XM_005251757	NA	Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000491893.1:c.160C>T	9.37:g.90219966C>T	ENSP00000419026:p.Arg54Trp	NA	B7ZLD2|Q14CQ7|Q1W5W0|Q68CP8|Q9BTL8	37		.	.	.	.	.	.	.	.	.	.	C	27.2	4.807760	0.90623	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.04	4.13	0.48395	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44902	D	0.000408	T	0.78848	0.4348	L	0.61387	1.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.81306	-0.0992	10	0.87932	D	0	.	13.9289	0.63981	0.1532:0.8468:0.0:0.0	.	54;54;54	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	W	54	ENSP00000350785:R54W;ENSP00000417076:R54W;ENSP00000418885:R54W;ENSP00000386135:R54W;ENSP00000419026:R54W	ENSP00000350785:R54W	R	+	1	2	DAPK1	89409786	0.991000	0.36638	1.000000	0.80357	0.993000	0.82548	2.952000	0.49097	1.332000	0.45431	0.511000	0.50034	CGG	DAPK1-011	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000356844.1		+	ENST00000491893.1	Missense_Mutation	SNP	9 : 90219966 - 90219966 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	258	52
CEP104	9731	broad.mit.edu	37	1	3750492	3750492	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3750492G>A	ENST00000378230.3	-	12	1917	c.1593C>T	c.(1591-1593)ccC>ccT	p.P531P	CEP104_ENST00000460038.1_5'UTR	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	531						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TGAGCAAAACGGGAATGGTCC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	129	131			NA	NA	1		NA											NA				3750492		2203	4300	6503	SO:0001819	synonymous_variant			AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198	9731	9731			24866	protein-coding gene	gene with protein product	glycine, glutamate, thienylcyclohexylpiperidine binding protein		KIAA0562	KIAA0562	NA	7488117, 21399614	Standard	NM_014704	NM_014704	NA	Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.1593C>T	1.37:g.3750492G>A		NA	Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	37	CCDS30571.1																																																																																			CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000009747.3		-	ENST00000378230.3	Silent	SNP	1 : 3750492 - 3750492 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	344	70
TRIM24	8805	broad.mit.edu	37	7	138239457	138239457	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138239457G>A	ENST00000343526.4	+	9	1491	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	TRIM24_ENST00000415680.2_Missense_Mutation_p.E426K|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24	426					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TTTAGTAATCGAGGATAAAGA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)							NA				0													70	74	73			NA	NA	7		NA											NA				138239457		2203	4300	6503	SO:0001583	missense			AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779	8805	8805		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers, Zinc fingers, PHD-type	11812	protein-coding gene	gene with protein product		603406	transcriptional intermediary factor 1, tripartite motif-containing 24	TIF1	NA	9115274, 9191165	Standard	NM_015905	NM_003852	NA	Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.1276G>A	7.37:g.138239457G>A	ENSP00000340507:p.Glu426Lys	NA	A4D1R7|A4D1R8|O95854	37	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733746	0.89482	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680;ENST00000378381	T;T	0.79845	-1.31;-1.23	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.89199	0.6647	M	0.74881	2.28	0.52501	D	0.999958	P;D	0.64830	0.945;0.994	P;D	0.67725	0.637;0.953	D	0.88917	0.3363	10	0.48119	T	0.1	-21.5728	18.8417	0.92186	0.0:0.0:1.0:0.0	.	426;426	O15164;O15164-2	TIF1A_HUMAN;.	K	426;337;426;384	ENSP00000340507:E426K;ENSP00000390829:E426K	ENSP00000340507:E426K	E	+	1	0	TRIM24	137889997	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	6.716000	0.74702	2.544000	0.85801	0.557000	0.71058	GAG	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341814.1		+	ENST00000343526.4	Missense_Mutation	SNP	7 : 138239457 - 138239457 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	516	87
EVC	2121	broad.mit.edu	37	4	5803763	5803763	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5803763C>T	ENST00000264956.6	+	16	2575	c.2391C>T	c.(2389-2391)atC>atT	p.I797I	EVC_ENST00000382674.2_Silent_p.I797I	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	797					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ACCAGCAAATCGGAAGGATCA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	76	75			NA	NA	4		NA											NA				5803763		2203	4300	6503	SO:0001819	synonymous_variant			AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840	2121	2121			3497	protein-coding gene	gene with protein product		604831			NA	10700184	Standard		NM_153717	NA	Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.2391C>T	4.37:g.5803763C>T		NA		37	CCDS3383.1																																																																																			EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206859.1		+	ENST00000264956.6	Silent	SNP	4 : 5803763 - 5803763 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	247	37
P2RY2	5029	broad.mit.edu	37	11	72945946	72945946	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72945946G>A	ENST00000311131.2	+	3	1209	c.742G>A	c.(742-744)Gcc>Acc	p.A248T	P2RY2_ENST00000393596.2_Missense_Mutation_p.A248T|P2RY2_ENST00000393597.2_Missense_Mutation_p.A248T	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	248					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GCGCACCATCGCCGTGGTGCT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	96	99			NA	NA	11		NA											NA				72945946		2200	4293	6493	SO:0001583	missense			U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591	5029	5029		Purinergic receptors, GPCR / Class A : Purinergic receptors, P2Y	8541	protein-coding gene	gene with protein product		600041			NA	8159738, 9286708	Standard	NM_176072	NM_002564	NA	Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.742G>A	11.37:g.72945946G>A	ENSP00000310305:p.Ala248Thr	NA	B2R9W3|Q96EM8	37	CCDS8219.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157056	0.38119	.	.	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	T;T;T	0.35236	1.32;1.32;1.32	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.122925	0.51477	D	0.000086	T	0.30070	0.0753	L	0.53671	1.685	0.33178	D	0.549133	P	0.39696	0.683	B	0.36845	0.234	T	0.50833	-0.8781	10	0.59425	D	0.04	.	6.7979	0.23734	0.2067:0.0:0.7933:0.0	.	248	P41231	P2RY2_HUMAN	T	248	ENSP00000377222:A248T;ENSP00000310305:A248T;ENSP00000377221:A248T	ENSP00000310305:A248T	A	+	1	0	P2RY2	72623594	0.960000	0.32886	0.666000	0.29783	0.606000	0.37113	2.458000	0.45014	2.170000	0.68504	0.561000	0.74099	GCC	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397336.1		+	ENST00000311131.2	Missense_Mutation	SNP	11 : 72945946 - 72945946 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	564	119
ADAMTS12	81792	broad.mit.edu	37	5	33527431	33527431	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33527431G>A	ENST00000504830.1	-	24	4982	c.4647C>T	c.(4645-4647)tgC>tgT	p.C1549C	ADAMTS12_ENST00000352040.3_Silent_p.C1464C	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1549	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCAGTGTCTGGCAGAAACTGG	0.443		NA								HNSCC(64;0.19)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	127	130			NA	NA	5		NA											NA				33527431		2203	4300	6503	SO:0001819	synonymous_variant			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388	81792	81792		ADAM metallopeptidases with thrombospondin type 1 motif	14605	protein-coding gene	gene with protein product		606184	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12		NA	11279086	Standard	NM_030955	NM_030955	NA	Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4647C>T	5.37:g.33527431G>A		NA	A2RRN9|A5D6V6|Q6UWL3	37	CCDS34140.1																																																																																			ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367164.2		-	ENST00000504830.1	Silent	SNP	5 : 33527431 - 33527431 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	461	15
DROSHA	29102	broad.mit.edu	37	5	31493337	31493337	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:31493337A>G	ENST00000511367.2	-	12	2063	c.1819T>C	c.(1819-1821)Ttt>Ctt	p.F607L	DROSHA_ENST00000513349.1_Missense_Mutation_p.F570L|DROSHA_ENST00000442743.1_Missense_Mutation_p.F570L|DROSHA_ENST00000344624.3_Missense_Mutation_p.F607L	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	607	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GCATGTGCAAACATAGAAAAT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	66	66			NA	NA	5		NA											NA				31493337		1880	4106	5986	SO:0001583	missense			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	29102	29102	3.1.26.3		17904	protein-coding gene	gene with protein product	drosha, ribonuclease type III, drosha, double-stranded RNA-specific endoribonuclease	608828	ribonuclease type III, nuclear	RNASEN	NA	10713462, 10948199	Standard	NM_013235	NM_013235	NA	Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.1819T>C	5.37:g.31493337A>G	ENSP00000425979:p.Phe607Leu	NA	Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	37	CCDS47195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.54|11.54	1.668260|1.668260	0.29604|0.29604	.|.	.|.	ENSG00000113360|ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188|ENST00000512076	T;T;T;T|.	0.09163|.	3.01;3.01;3.01;3.01|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.41305|0.41305	0.1153|0.1153	N|N	0.11313|0.11313	0.125|0.125	0.80722|0.80722	D|D	1|1	B;B;B|.	0.21147|.	0.052;0.031;0.008|.	B;B;B|.	0.21151|.	0.033;0.014;0.004|.	T|T	0.35549|0.35549	-0.9784|-0.9784	10|5	0.02654|.	T|.	1|.	-18.4387|-18.4387	15.5976|15.5976	0.76599|0.76599	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	539;570;607|.	Q9NRR4-2;E7EMP9;Q9NRR4|.	.;.;RNC_HUMAN|.	L|A	607;607;570;570;532;563|368	ENSP00000425979:F607L;ENSP00000339845:F607L;ENSP00000409335:F570L;ENSP00000424161:F570L|.	ENSP00000265075:F532L|.	F|V	-|-	1|2	0|0	DROSHA|DROSHA	31529094|31529094	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.904000|7.904000	0.87408|0.87408	2.163000|2.163000	0.67991|0.67991	0.460000|0.460000	0.39030|0.39030	TTT|GTT	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366561.3		-	ENST00000511367.2	Missense_Mutation	SNP	5 : 31493337 - 31493337 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	84	14
ASUN	55726	broad.mit.edu	37	12	27069065	27069065	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:27069065A>G	ENST00000261191.7	-	11	1654	c.1118T>C	c.(1117-1119)aTt>aCt	p.I373T	ASUN_ENST00000539625.1_Missense_Mutation_p.I272T	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	373					cell division|mitosis|regulation of mitotic cell cycle		protein binding				NA						CATATGACTAATGACTTTAGA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	81	85			NA	NA	12		NA											NA				27069065		2203	4300	6503	SO:0001583	missense			AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102	55726	55726			20174	protein-coding gene	gene with protein product	spermatogenesis associated 30	615079	chromosome 12 open reading frame 11, asunder, spermatogenesis regulator homolog (Drosphila)	C12orf11	NA	12414650, 19357193, 23097494	Standard	NM_018164	NM_018164	NA	Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.1118T>C	12.37:g.27069065A>G	ENSP00000261191:p.Ile373Thr	NA	Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	37	CCDS8708.1	.	.	.	.	.	.	.	.	.	.	A	12.99	2.104347	0.37145	.	.	ENSG00000064102	ENST00000538155;ENST00000261191;ENST00000539625	T;T;T	0.46819	0.86;0.86;0.86	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.54951	0.1890	L	0.31207	0.915	0.80722	D	1	D	0.62365	0.991	D	0.78314	0.991	T	0.45716	-0.9242	10	0.11794	T	0.64	-22.904	16.5479	0.84454	1.0:0.0:0.0:0.0	.	373	Q9NVM9	M89BB_HUMAN	T	77;373;272	ENSP00000445645:I77T;ENSP00000261191:I373T;ENSP00000443724:I272T	ENSP00000261191:I373T	I	-	2	0	C12orf11	26960332	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.266000	0.95659	2.371000	0.80710	0.533000	0.62120	ATT	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402819.1		-	ENST00000261191.7	Missense_Mutation	SNP	12 : 27069065 - 27069065 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	245	51
LLGL1	3996	broad.mit.edu	37	17	18135840	18135840	+	Silent	SNP	C	C	T	rs139741665	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18135840C>T	ENST00000316843.4	+	3	307	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	71					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GTTCACAGGCCTGCACCGGGA	0.587		NA											C	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	0.0023	SNP								NA				0													76	64	68			NA	NA	17		NA											NA				18135840		2203	4300	6503	SO:0001819	synonymous_variant				CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899	3996	3996		WD repeat domain containing	6628	protein-coding gene	gene with protein product		600966	lethal giant larvae (Drosophila) homolog 1	DLG4, LLGL, HUGL, HUGL-1	NA	7542763, 8565641	Standard		XM_005256643	NA	Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.211C>T	17.37:g.18135840C>T		NA	A7MBM7|O00188|Q58F11|Q86UK6	37	CCDS32586.1																																																																																			LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132067.3		+	ENST00000316843.4	Silent	SNP	17 : 18135840 - 18135840 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	211	31
ELAVL2	1993	broad.mit.edu	37	9	23692688	23692688	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:23692688C>T	ENST00000397312.2	-	7	1221	c.947G>A	c.(946-948)tGc>tAc	p.C316Y	ELAVL2_ENST00000380117.1_Missense_Mutation_p.C316Y|ELAVL2_ENST00000544538.1_Missense_Mutation_p.C316Y|ELAVL2_ENST00000380110.4_Missense_Mutation_p.C346Y|ELAVL2_ENST00000223951.6_Missense_Mutation_p.C303Y	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	316	RRM 3.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		AAAACCTTTGCATTTATTGGT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	116	123			NA	NA	9		NA											NA				23692688		2203	4300	6503	SO:0001583	missense			BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105	1993	1993		RNA binding motif (RRM) containing	3313	protein-coding gene	gene with protein product	Hu antigen B	601673	ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2, ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)		NA	8812435	Standard	NM_004432	NM_004432	NA	Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.947G>A	9.37:g.23692688C>T	ENSP00000380479:p.Cys316Tyr	NA	D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	37	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858770	0.51376	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	5.94	5.94	0.96194	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	L	0.48218	1.51	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.994	T	0.03597	-1.1021	10	0.87932	D	0	.	20.369	0.98888	0.0:1.0:0.0:0.0	.	316;303	Q12926;Q12926-2	ELAV2_HUMAN;.	Y	303;316;316;303;316;344	ENSP00000223951:C303Y;ENSP00000380479:C316Y;ENSP00000440998:C316Y;ENSP00000369460:C316Y	ENSP00000223951:C303Y	C	-	2	0	ELAVL2	23682688	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.409000	0.80053	2.819000	0.97034	0.650000	0.86243	TGC	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051943.2		-	ENST00000397312.2	Missense_Mutation	SNP	9 : 23692688 - 23692688 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	563	91
PIK3C3	5289	broad.mit.edu	37	18	39620653	39620653	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:39620653T>G	ENST00000262039.4	+	19	2137	c.2051T>G	c.(2050-2052)tTt>tGt	p.F684C	PIK3C3_ENST00000587402.1_Missense_Mutation_p.F31C|PIK3C3_ENST00000593098.1_Missense_Mutation_p.F169C|PIK3C3_ENST00000589056.1_Missense_Mutation_p.F31C|PIK3C3_ENST00000398870.3_Missense_Mutation_p.F621C	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	684	PI3K/PI4K.				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TTCATGCAGTTTATCCAGTCA	0.358		NA								TSP Lung(28;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(37;552 1060 2683 16430 37914)							NA				0													181	170	173			NA	NA	18		NA											NA				39620653		2203	4300	6503	SO:0001583	missense			Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	5289	5289	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	phosphoinositide-3-kinase, class 3		NA	7628435	Standard	NM_002647	NM_002647	NA	Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.2051T>G	18.37:g.39620653T>G	ENSP00000262039:p.Phe684Cys	NA	Q15134	37	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.117974	0.77323	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	D;D	0.81739	-1.53;-1.53	5.74	5.74	0.90152	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.045884	0.85682	D	0.000000	D	0.86556	0.5961	L	0.49350	1.555	0.80722	D	1	P;D;P	0.89917	0.584;1.0;0.521	B;D;P	0.74348	0.382;0.983;0.493	D	0.85786	0.1364	9	.	.	.	.	16.0331	0.80597	0.0:0.0:0.0:1.0	.	621;621;684	A8MYT4;B4DPV9;Q8NEB9	.;.;PK3C3_HUMAN	C	684;621	ENSP00000262039:F684C;ENSP00000381845:F621C	.	F	+	2	0	PIK3C3	37874651	1.000000	0.71417	0.992000	0.48379	0.962000	0.63368	7.421000	0.80204	2.186000	0.69663	0.460000	0.39030	TTT	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255804.1		+	ENST00000262039.4	Missense_Mutation	SNP	18 : 39620653 - 39620653 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	675	122
TRAF3IP1	26146	broad.mit.edu	37	2	239306131	239306131	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239306131A>C	ENST00000373327.4	+	16	1943	c.1721A>C	c.(1720-1722)aAg>aCg	p.K574T	TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.K574T|TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.K508T	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	574	DISC1-interaction domain.					cytoplasm|cytoskeleton	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		GCATGGAAGAAGGAGAAGGAC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	107	108			NA	NA	2		NA											NA				239306131		2203	4300	6503	SO:0001583	missense			AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104	26146	26146		Intraflagellar transport homologs	17861	protein-coding gene	gene with protein product	microtubule interacting protein that associates with TRAF3	607380			NA	10791955, 12935900	Standard	NM_015650	NM_015650	NA	Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.1721A>C	2.37:g.239306131A>C	ENSP00000362424:p.Lys574Thr	NA	Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	37	CCDS33415.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.447268	0.84101	.	.	ENSG00000204104	ENST00000391993;ENST00000373327;ENST00000391994;ENST00000440998	T;T;T	0.16457	2.34;2.34;2.34	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.37073	0.0990	L	0.61387	1.9	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.72338	0.977;0.937	T	0.12218	-1.0556	10	0.72032	D	0.01	-44.9473	11.4061	0.49898	0.9275:0.0:0.0724:0.0	.	508;574	Q8TDR0-2;Q8TDR0	.;MIPT3_HUMAN	T	508;574;574;508	ENSP00000375851:K508T;ENSP00000362424:K574T;ENSP00000375852:K574T	ENSP00000362424:K574T	K	+	2	0	TRAF3IP1	238970870	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.663000	0.61532	2.062000	0.61559	0.533000	0.62120	AAG	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328312.1		+	ENST00000373327.4	Missense_Mutation	SNP	2 : 239306131 - 239306131 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	577	132
DDX60L	91351	broad.mit.edu	37	4	169327215	169327215	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169327215C>T	ENST00000511577.1	-	24	3346	c.3099G>A	c.(3097-3099)gaG>gaA	p.E1033E	DDX60L_ENST00000505890.1_Silent_p.E1033E|DDX60L_ENST00000260184.7_Silent_p.E1033E			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1033							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GAATGAATTCCTCTGGACACA	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	59	61			NA	NA	4		NA											NA				169327215		1807	4084	5891	SO:0001819	synonymous_variant			AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381	91351	91351			26429	protein-coding gene	gene with protein product					NA		Standard	NM_001012967	XM_005263341	NA	Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.3099G>A	4.37:g.169327215C>T		NA	Q96ND6	37																																																																																				DDX60L-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000364839.1		-	ENST00000511577.1	Silent	SNP	4 : 169327215 - 169327215 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	137	20
SUPT5H	6829	broad.mit.edu	37	19	39955444	39955444	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39955444C>T	ENST00000599117.1	+	12	998	c.631C>T	c.(631-633)Cag>Tag	p.Q211*	SUPT5H_ENST00000402194.2_Nonsense_Mutation_p.Q207*|SUPT5H_ENST00000359191.6_Nonsense_Mutation_p.Q207*|SUPT5H_ENST00000598725.1_Nonsense_Mutation_p.Q211*|SUPT5H_ENST00000432763.2_Nonsense_Mutation_p.Q211*			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	211	Interaction with SUPT4H1.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCAGCCCCTGCAGATCAAGTC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	78	79			NA	NA	19		NA											NA				39955444		2203	4300	6503	SO:0001587	stop_gained			U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235	6829	6829			11469	protein-coding gene	gene with protein product		602102	suppressor of Ty (S.cerevisiae) 5 homolog		NA	8975720	Standard	NM_003169	NM_003169	NA	Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.631C>T	19.37:g.39955444C>T	ENSP00000470252:p.Gln211*	NA	O43279|Q59G52|Q99639	37	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	C	39	7.821838	0.98507	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-24.5112	18.4325	0.90632	0.0:1.0:0.0:0.0	.	.	.	.	X	211;207;189;211	.	.	Q	+	1	0	SUPT5H	44647284	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.514000	0.81750	2.645000	0.89757	0.655000	0.94253	CAG	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464918.1		+	ENST00000599117.1	Nonsense_Mutation	SNP	19 : 39955444 - 39955444 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	447	75
ABCA2	20	broad.mit.edu	37	9	139914880	139914880	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139914880G>A	ENST00000341511.6	-	10	1382	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W	ABCA2_ENST00000265662.5_Missense_Mutation_p.R445W|ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000371605.3_Missense_Mutation_p.R444W	NM_001606.4|NM_212533.2	NP_001597|NP_997698.1	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	444					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCCAGGTTCCGCTGCTCCTTG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	85	80			NA	NA	9		NA											NA				139914880		2161	4247	6408	SO:0001583	missense			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331	20	20		ATP binding cassette transporters / subfamily A	32	protein-coding gene	gene with protein product		600047		ABC2	NA	8088782	Standard	NM_001606	NM_212533	NA	Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000341511.6:c.1333C>T	9.37:g.139914880G>A	ENSP00000344155:p.Arg445Trp	NA	A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	37	CCDS43909.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.7|22.7	4.323890|4.323890	0.81580|0.81580	.|.	.|.	ENSG00000107331|ENSG00000107331	ENST00000470535|ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	.|D;D;D	.|0.89617	.|-2.54;-2.54;-2.54	4.64|4.64	3.7|3.7	0.42460|0.42460	.|.	.|0.149744	.|0.43260	.|U	.|0.000598	D|D	0.92691|0.92691	0.7677|0.7677	M|M	0.65975|0.65975	2.015|2.015	0.50039|0.50039	D|D	0.999845|0.999845	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.76071	.|0.987;0.987;0.987	D|D	0.93110|0.93110	0.6516|0.6516	5|10	.|0.87932	.|D	.|0	.|.	11.9976|11.9976	0.53212|0.53212	0.0:0.0:0.6897:0.3103|0.0:0.0:0.6897:0.3103	.|.	.|444;474;475	.|Q9BZC7;E7EU84;E7ETC3	.|ABCA2_HUMAN;.;.	V|W	55|445;444;475;445	.|ENSP00000265662:R445W;ENSP00000360666:R444W;ENSP00000344155:R445W	.|ENSP00000265662:R445W	A|R	-|-	2|1	0|2	ABCA2|ABCA2	139034701|139034701	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.091000|3.091000	0.50199|0.50199	2.113000|2.113000	0.64589|0.64589	0.462000|0.462000	0.41574|0.41574	GCG|CGG	ABCA2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055199.2		-	ENST00000341511.6	Missense_Mutation	SNP	9 : 139914880 - 139914880 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	482	70
LAMA5	3911	broad.mit.edu	37	20	60906108	60906108	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60906108G>A	ENST00000252999.3	-	29	3696	c.3630C>T	c.(3628-3630)caC>caT	p.H1210H		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1210	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAAAGGCGCCGTGGCTGCTGA	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	24	23			NA	NA	20		NA											NA				60906108		2196	4299	6495	SO:0001819	synonymous_variant			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702	3911	3911		Laminins	6485	protein-coding gene	gene with protein product		601033			NA	9271224	Standard	NM_005560	NM_005560	NA	Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.3630C>T	20.37:g.60906108G>A		NA	Q8TDF8|Q8WZA7|Q9H1P1	37	CCDS33502.1																																																																																			LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080014.2		-	ENST00000252999.3	Silent	SNP	20 : 60906108 - 60906108 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	124	26
CKM	1158	broad.mit.edu	37	19	45821181	45821181	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45821181C>A	ENST00000221476.3	-	3	424	c.250G>T	c.(250-252)Gtt>Ttt	p.V84F		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	84	Phosphagen kinase N-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	TCCTTGAAAACTTCGTAGGAC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	88	95			NA	NA	19		NA											NA				45821181		2203	4300	6503	SO:0001583	missense			M14780	CCDS12659.1	19q13.32	2012-10-02			ENSG00000104879	ENSG00000104879	1158	1158	2.7.3.2		1994	protein-coding gene	gene with protein product		123310		CKMM	NA		Standard		NM_001824	NA	Approved		uc002pbd.4	P06732		ENST00000221476.3:c.250G>T	19.37:g.45821181C>A	ENSP00000221476:p.Val84Phe	NA	Q96QL9	37	CCDS12659.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131791	0.56828	.	.	ENSG00000104879	ENST00000221476	T	0.68765	-0.35	4.62	4.62	0.57501	ATP:guanido phosphotransferase, N-terminal (4);	0.209227	0.39687	N	0.001295	D	0.84705	0.5531	H	0.97240	3.965	0.80722	D	1	P	0.49559	0.925	P	0.53809	0.735	D	0.90235	0.4282	10	0.87932	D	0	-12.8929	15.0581	0.71930	0.0:1.0:0.0:0.0	.	84	P06732	KCRM_HUMAN	F	84	ENSP00000221476:V84F	ENSP00000221476:V84F	V	-	1	0	CKM	50513021	1.000000	0.71417	0.056000	0.19401	0.042000	0.13812	7.283000	0.78640	2.418000	0.82041	0.650000	0.86243	GTT	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457569.1		-	ENST00000221476.3	Missense_Mutation	SNP	19 : 45821181 - 45821181 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	262	41
MASP1	5648	broad.mit.edu	37	3	186968053	186968053	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186968053A>C	ENST00000392472.2	-	7	1188	c.737T>G	c.(736-738)aTt>aGt	p.I246S	MASP1_ENST00000392470.2_Missense_Mutation_p.I333S|MASP1_ENST00000296280.6_Missense_Mutation_p.I359S|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000337774.5_Missense_Mutation_p.I359S|MASP1_ENST00000169293.6_Missense_Mutation_p.I359S			P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	359	CUB 2.|Interaction with FCN2.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		ACAGGTGGGAATCTTGTTACT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													200	203	202			NA	NA	3		NA											NA				186968053		2203	4300	6503	SO:0001583	missense			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241	5648	5648		Serine peptidases / Serine peptidases	6901	protein-coding gene	gene with protein product		600521	mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)	CRARF, PRSS5	NA	8018603, 8240317	Standard	NM_001879	NR_033519	NA	Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000392472.2:c.737T>G	3.37:g.186968053A>C	ENSP00000376264:p.Ile246Ser	NA	A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	37		.	.	.	.	.	.	.	.	.	.	A	14.46	2.541866	0.45280	.	.	ENSG00000127241	ENST00000337774;ENST00000296280;ENST00000392472;ENST00000541896;ENST00000169293;ENST00000392470	T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06	5.7	5.7	0.88788	Complement control module (2);Sushi/SCR/CCP (3);	0.282017	0.39475	N	0.001342	T	0.57475	0.2056	L	0.47716	1.5	0.37569	D	0.919358	B;B;B;B;B	0.33345	0.062;0.001;0.387;0.409;0.023	B;B;B;B;B	0.35859	0.062;0.026;0.212;0.099;0.073	T	0.60281	-0.7294	10	0.27785	T	0.31	.	15.1457	0.72650	1.0:0.0:0.0:0.0	.	333;359;246;359;359	F8W876;P48740-3;P48740-4;P48740-2;P48740	.;.;.;.;MASP1_HUMAN	S	359;359;246;246;359;333	ENSP00000336792:I359S;ENSP00000296280:I359S;ENSP00000376264:I246S;ENSP00000169293:I359S;ENSP00000376262:I333S	ENSP00000169293:I359S	I	-	2	0	MASP1	188450747	0.979000	0.34478	0.941000	0.38009	0.983000	0.72400	5.135000	0.64777	2.174000	0.68829	0.533000	0.62120	ATT	MASP1-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000344266.2		-	ENST00000392472.2	Missense_Mutation	SNP	3 : 186968053 - 186968053 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1063	172
PRLHR	2834	broad.mit.edu	37	10	120353797	120353797	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:120353797G>A	ENST00000369169.1	-	1	959	c.960C>T	c.(958-960)tgC>tgT	p.C320C	PRLHR_ENST00000239032.2_Silent_p.C320C			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	320					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		CGAGCCAGTGGCAGAGCAGCT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	48	49			NA	NA	10		NA											NA				120353797		2203	4298	6501	SO:0001819	synonymous_variant			AB048946	CCDS7606.1	10q25.3-q26	2014-02-21	2005-11-24	2005-11-24	ENSG00000119973	ENSG00000119973	2834	2834		GPCR / Class A : RF amide peptide receptors	4464	protein-coding gene	gene with protein product		600895	G protein-coupled receptor 10	GPR10	NA	8666380, 15885496	Standard	NM_004248	NM_004248	NA	Approved	PrRPR	uc001ldp.1	P49683	OTTHUMG00000019136	ENST00000369169.1:c.960C>T	10.37:g.120353797G>A		NA	O75194|Q502U8|Q5VXR9	37	CCDS7606.1																																																																																			PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050610.1		-	ENST00000369169.1	Silent	SNP	10 : 120353797 - 120353797 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	495	115
INMT-FAM188B	100526825	broad.mit.edu	37	7	30793510	30793510	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30793510C>A	ENST00000458257.1	+	2	329	c.315C>A	c.(313-315)gaC>gaA	p.D105E	INMT_ENST00000484180.1_3'UTR|INMT_ENST00000013222.5_Missense_Mutation_p.D106E|INMT_ENST00000409539.1_Missense_Mutation_p.D105E					INMT-FAM188B readthrough (NMD candidate)	NA											NA						GGGCCTATGACTGGACCCCAG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	86	83			NA	NA	7		NA											NA				30793510		2203	4300	6503	SO:0001583	missense					7p14.3	2013-05-09	2013-05-09		ENSG00000254959	ENSG00000254959	100526825	100526825			41995	other	readthrough					NA		Standard	NR_037598.1	NR_037598	NA	Approved				OTTHUMG00000022897	ENST00000458257.1:c.315C>A	7.37:g.30793510C>A	ENSP00000456039:p.Asp105Glu	NA		37		.	.	.	.	.	.	.	.	.	.	C	17.03	3.285357	0.59867	.	.	ENSG00000241644	ENST00000013222;ENST00000409539	T;T	0.05649	3.41;3.41	3.69	3.69	0.42338	.	0.000000	0.64402	D	0.000011	T	0.18635	0.0447	M	0.73372	2.23	0.41786	D	0.989844	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.986	T	0.00433	-1.1742	10	0.44086	T	0.13	-26.0641	7.2097	0.25927	0.0:0.8781:0.0:0.1219	.	105;106	B8ZZ69;O95050	.;INMT_HUMAN	E	106;105	ENSP00000013222:D106E;ENSP00000386961:D105E	ENSP00000013222:D106E	D	+	3	2	INMT	30760035	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	2.516000	0.45520	2.043000	0.60533	0.561000	0.74099	GAC	INMT-FAM188B-001	KNOWN	basic|appris_candidate_longest|readthrough_transcript	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000393508.1		+	ENST00000458257.1	Missense_Mutation	SNP	7 : 30793510 - 30793510 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	695	134
TIMELESS	8914	broad.mit.edu	37	12	56827200	56827200	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56827200C>A	ENST00000229201.4	-	5	548	c.394G>T	c.(394-396)Gtc>Ttc	p.V132F	TIMELESS_ENST00000553532.1_Missense_Mutation_p.V132F|TIMELESS_ENST00000554616.1_Missense_Mutation_p.V132F	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	132					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TCACTGAGGACTCCAAAAGCC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	79	80			NA	NA	12		NA											NA				56827200		2203	4300	6503	SO:0001583	missense			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602	8914	8914			11813	protein-coding gene	gene with protein product	Tof1 homolog (S. cerevisiae), timeless circadian clock 1	603887	timeless (Drosophila) homolog, timeless homolog (Drosophila)		NA	9856465	Standard	NM_003920	NM_003920	NA	Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000229201.4:c.394G>T	12.37:g.56827200C>A	ENSP00000229201:p.Val132Phe	NA	B2ZAV0|O94802|Q86VM1|Q8IWH3	37		.	.	.	.	.	.	.	.	.	.	C	23.0	4.367273	0.82463	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.50001	0.76;0.76;0.76	5.42	4.53	0.55603	Timeless protein (1);	0.122383	0.56097	D	0.000036	T	0.69278	0.3093	M	0.83223	2.63	0.46701	D	0.999161	D;D	0.76494	0.999;0.999	D;D	0.71414	0.971;0.973	T	0.74996	-0.3473	10	0.87932	D	0	-19.0421	13.3854	0.60793	0.0:0.9229:0.0:0.0771	.	132;132	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	F	132	ENSP00000229201:V132F;ENSP00000450607:V132F;ENSP00000450848:V132F	ENSP00000229201:V132F	V	-	1	0	TIMELESS	55113467	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	3.872000	0.56085	1.439000	0.47511	0.650000	0.86243	GTC	TIMELESS-002	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000409772.2		-	ENST00000229201.4	Missense_Mutation	SNP	12 : 56827200 - 56827200 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	345	63
IQGAP2	10788	broad.mit.edu	37	5	75967644	75967644	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75967644C>T	ENST00000274364.6	+	24	3201	c.2904C>T	c.(2902-2904)gtC>gtT	p.V968V	IQGAP2_ENST00000379730.3_Silent_p.V470V|IQGAP2_ENST00000502745.1_Silent_p.V464V|IQGAP2_ENST00000396234.3_Silent_p.V464V	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	968	Ras-GAP.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TCAAGATGGTCGTCAGCTTCA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	83	82			NA	NA	5		NA											NA				75967644		2203	4300	6503	SO:0001819	synonymous_variant			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703	10788	10788			6111	protein-coding gene	gene with protein product		605401			NA	8756646	Standard	NM_006633	XM_005248409	NA	Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.2904C>T	5.37:g.75967644C>T		NA	A8K4V1|B7Z8A4	37	CCDS34188.1																																																																																			IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368877.1		+	ENST00000274364.6	Silent	SNP	5 : 75967644 - 75967644 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	374	71
DOCK1	1793	broad.mit.edu	37	10	129160443	129160443	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129160443G>A	ENST00000280333.6	+	33	3445	c.3336G>A	c.(3334-3336)caG>caA	p.Q1112Q		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1112	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ATATGATGCAGTGTGAATTCC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	63	63			NA	NA	10		NA											NA				129160443		2102	4255	6357	SO:0001819	synonymous_variant			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760	1793	1793			2987	protein-coding gene	gene with protein product	DOwnstream of CrK	601403	dedicator of cyto-kinesis 1		NA	8657152, 8661160	Standard	NM_001380	XM_006717681	NA	Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.3336G>A	10.37:g.129160443G>A		NA	A9Z1Z5	37																																																																																				DOCK1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000050979.2		+	ENST00000280333.6	Silent	SNP	10 : 129160443 - 129160443 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	196	32
KLF12	11278	broad.mit.edu	37	13	74420163	74420163	+	Silent	SNP	G	G	A	rs141339758	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:74420163G>A	ENST00000377669.2	-	3	497	c.471C>T	c.(469-471)ggC>ggT	p.G157G	KLF12_ENST00000472022.1_5'UTR|KLF12_ENST00000377666.4_Silent_p.G157G	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	157					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		AAAACTGCTGGCCTCCAACAC	0.498		NA											G	2	9e-04	0.0041	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	9e-04	1	LOWCOV,EXOME	NA	NA	0.0011	SNP								NA				0								G		18,4388	24.3+/-50.5	0,18,2185	94	80	84		471	3.3	1	13	dbSNP_134	84	0,8600		0,0,4300	no	coding-synonymous	KLF12	NM_007249.4		0,18,6485	AA,AG,GG	NA	0.0,0.4085,0.1384		157/403	74420163	18,12988	2203	4300	6503	SO:0001819	synonymous_variant			AJ243274	CCDS9449.1	13q22	2013-01-08			ENSG00000118922	ENSG00000118922	11278	11278		Kruppel-like transcription factors, Zinc fingers, C2H2-type	6346	protein-coding gene	gene with protein product	KLF12 zinc finger transcriptional repressor, AP-2rep transcription factor, AP-2 repressor	607531			NA	10704285	Standard	NM_007249	NM_007249	NA	Approved	AP-2rep, HSPC122, AP2REP	uc001vjf.3	Q9Y4X4	OTTHUMG00000017078	ENST00000377669.2:c.471C>T	13.37:g.74420163G>A		NA	A8K5T2|Q5VZM7|Q9UHZ0	37	CCDS9449.1																																																																																			KLF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045271.2		-	ENST00000377669.2	Silent	SNP	13 : 74420163 - 74420163 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	179	29
GLS2	27165	broad.mit.edu	37	12	56866494	56866494	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56866494G>A	ENST00000311966.4	-	15	1769	c.1491C>T	c.(1489-1491)ggC>ggT	p.G497G		NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	497					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTGAGACATCGCCACTATAGG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	147	158			NA	NA	12		NA											NA				56866494		2203	4300	6503	SO:0001819	synonymous_variant				CCDS8921.1, CCDS73482.1	12q13	2013-01-10			ENSG00000135423	ENSG00000135423	27165	27165		Ankyrin repeat domain containing	29570	protein-coding gene	gene with protein product		606365			NA	11130979, 10620514	Standard	NM_013267	NM_013267	NA	Approved	GA, GLS, LGA, hLGA	uc001slj.3	Q9UI32	OTTHUMG00000140379	ENST00000311966.4:c.1491C>T	12.37:g.56866494G>A		NA	Q8IX91|Q9NYY2|Q9UI31	37	CCDS8921.1																																																																																			GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277113.1		-	ENST00000311966.4	Silent	SNP	12 : 56866494 - 56866494 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	547	117
ARMC6	93436	broad.mit.edu	37	19	19166187	19166187	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19166187G>T	ENST00000546344.1	+	4	1176	c.858G>T	c.(856-858)caG>caT	p.Q286H	ARMC6_ENST00000392336.3_Missense_Mutation_p.Q379H|ARMC6_ENST00000269932.6_Missense_Mutation_p.Q354H|ARMC6_ENST00000535612.1_Missense_Mutation_p.Q379H|ARMC6_ENST00000392335.2_Missense_Mutation_p.Q354H			Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	379							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CTATGACCCAGCATCTGACCA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	71	77			NA	NA	19		NA											NA				19166187		2203	4300	6503	SO:0001583	missense			BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676	93436	93436		Armadillo repeat containing	25049	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_033415	NM_033415	NA	Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000546344.1:c.858G>T	19.37:g.19166187G>T	ENSP00000444341:p.Gln286His	NA	B4DI98|O94999|Q9BTH5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.215|9.215	1.031972|1.031972	0.19590|0.19590	.|.	.|.	ENSG00000105676|ENSG00000105676	ENST00000535478;ENST00000535795|ENST00000392335;ENST00000535612;ENST00000269932;ENST00000546344;ENST00000379532;ENST00000392336	.|T;T;T;T;T	.|0.30714	.|1.53;1.52;1.53;1.53;1.52	4.88|4.88	1.1|1.1	0.20463|0.20463	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.458981	.|0.21457	.|N	.|0.074236	T|T	0.12902|0.12902	0.0313|0.0313	N|N	0.12182|0.12182	0.205|0.205	0.31551|0.31551	N|N	0.658778|0.658778	.|B	.|0.09022	.|0.002	.|B	.|0.06405	.|0.002	T|T	0.05869|0.05869	-1.0859|-1.0859	5|10	.|0.37606	.|T	.|0.19	-12.8714|-12.8714	2.6774|2.6774	0.05084|0.05084	0.1647:0.3823:0.3175:0.1356|0.1647:0.3823:0.3175:0.1356	.|.	.|379	.|Q6NXE6	.|ARMC6_HUMAN	S|H	69;43|354;379;354;286;290;379	.|ENSP00000376147:Q354H;ENSP00000444156:Q379H;ENSP00000269932:Q354H;ENSP00000444341:Q286H;ENSP00000376148:Q379H	.|ENSP00000269932:Q354H	A|Q	+|+	1|3	0|2	ARMC6|ARMC6	19027187|19027187	0.028000|0.028000	0.19301|0.19301	0.991000|0.991000	0.47740|0.47740	0.340000|0.340000	0.28889|0.28889	-0.470000|-0.470000	0.06639|0.06639	0.994000|0.994000	0.38892|0.38892	0.563000|0.563000	0.77884|0.77884	GCA|CAG	ARMC6-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000403231.1		+	ENST00000546344.1	Missense_Mutation	SNP	19 : 19166187 - 19166187 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	71
ZRANB3	84083	broad.mit.edu	37	2	136033212	136033212	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136033212T>G	ENST00000401392.1	-	9	1292	c.1080A>C	c.(1078-1080)gaA>gaC	p.E360D	ZRANB3_ENST00000264159.6_Missense_Mutation_p.E360D|ZRANB3_ENST00000536680.1_Missense_Mutation_p.E360D			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	360	Helicase C-terminal.					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		ATACCTTATTTTCGATGACTG	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	51	52			NA	NA	2		NA											NA				136033212		1835	4084	5919	SO:0001583	missense			AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988	84083	84083		Zinc fingers, RAN-binding domain containing	25249	protein-coding gene	gene with protein product					NA	11230166	Standard	NM_032143	XM_005263809	NA	Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000401392.1:c.1080A>C	2.37:g.136033212T>G	ENSP00000383979:p.Glu360Asp	NA	B5MDI3|Q9H0E8	37		.	.	.	.	.	.	.	.	.	.	T	16.65	3.183042	0.57800	.	.	ENSG00000121988	ENST00000401392;ENST00000264159;ENST00000536680;ENST00000397448	D;D;D	0.92699	-3.09;-3.09;-3.09	5.21	2.83	0.33086	Helicase, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.87853	0.6282	N	0.21240	0.645	0.44789	D	0.997797	P;P;P	0.47302	0.893;0.802;0.454	B;P;P	0.49477	0.428;0.612;0.465	D	0.84716	0.0737	10	0.52906	T	0.07	3.0918	8.4771	0.33021	0.0:0.3001:0.0:0.6999	.	300;360;360	E9PBP0;Q5FWF4;Q5FWF4-3	.;ZRAB3_HUMAN;.	D	360;360;360;300	ENSP00000383979:E360D;ENSP00000264159:E360D;ENSP00000441320:E360D	ENSP00000264159:E360D	E	-	3	2	ZRANB3	135749682	1.000000	0.71417	0.999000	0.59377	0.752000	0.42762	1.787000	0.38704	0.309000	0.22966	-0.415000	0.06103	GAA	ZRANB3-002	NOVEL	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000318255.3		-	ENST00000401392.1	Missense_Mutation	SNP	2 : 136033212 - 136033212 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	105	11
C4orf22	255119	broad.mit.edu	37	4	81504321	81504321	+	Missense_Mutation	SNP	G	G	A	rs150179610	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:81504321G>A	ENST00000358105.3	+	3	366	c.317G>A	c.(316-318)cGc>cAc	p.R106H	C4orf22_ENST00000508675.1_Missense_Mutation_p.R106H|C4orf22_ENST00000512931.1_3'UTR	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	106										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						GAAGACAATCGCAGTGGAAAA	0.343		NA											G	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	2e-04	NA	NA	NA	5e-04	0.9547	LOWCOV,EXOME	NA	NA	9e-04	SNP								NA				0													73	71	72			NA	NA	4		NA											NA				81504321		2203	4300	6503	SO:0001583	missense			BC034296	CCDS3587.1, CCDS56336.1	4q21.21	2008-02-05			ENSG00000197826	ENSG00000197826	255119	255119			28554	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152770	NM_152770	NA	Approved		uc010ijp.3	Q6V702	OTTHUMG00000130289	ENST00000358105.3:c.317G>A	4.37:g.81504321G>A	ENSP00000350818:p.Arg106His	NA	Q6ZQY4|Q8N4G9	37	CCDS3587.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.08	3.021501	0.54576	.	.	ENSG00000197826	ENST00000358105;ENST00000508675	T;T	0.33654	1.4;1.4	5.55	3.77	0.43336	.	0.207143	0.40222	N	0.001144	T	0.63757	0.2538	M	0.91818	3.245	0.37468	D	0.915485	D;D	0.89917	1.0;1.0	D;D	0.75484	0.981;0.986	T	0.71104	-0.4689	10	0.62326	D	0.03	.	9.1071	0.36705	0.077:0.0:0.7644:0.1587	.	106;106	E7EQ13;Q6V702	.;CD022_HUMAN	H	106	ENSP00000350818:R106H;ENSP00000425786:R106H	ENSP00000350818:R106H	R	+	2	0	C4orf22	81723345	1.000000	0.71417	0.627000	0.29227	0.259000	0.26198	3.675000	0.54605	0.837000	0.34925	0.655000	0.94253	CGC	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252629.2		+	ENST00000358105.3	Missense_Mutation	SNP	4 : 81504321 - 81504321 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	335	61
OBSCN	84033	broad.mit.edu	37	1	228481232	228481232	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228481232G>A	ENST00000570156.2	+	46	12407	c.12333G>A	c.(12331-12333)caG>caA	p.Q4111Q	OBSCN_ENST00000366709.4_Silent_p.Q801Q|OBSCN_ENST00000422127.1_Silent_p.Q3682Q|OBSCN_ENST00000359599.6_Silent_p.Q2529Q|OBSCN_ENST00000366707.4_Silent_p.Q801Q|OBSCN_ENST00000284548.11_Silent_p.Q3682Q	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3153	Ig-like 42.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTGAGCTGCAGATCCGCGGCC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	103	101			NA	NA	1		NA											NA				228481232		2183	4272	6455	SO:0001819	synonymous_variant			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358	84033	84033		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	15719	protein-coding gene	gene with protein product		608616			NA	11448995, 11814696	Standard	NM_052843	NM_001098623	NA	Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000570156.2:c.12333G>A	1.37:g.228481232G>A		NA	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	37	CCDS59204.1																																																																																			OBSCN-011	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421354.3		+	ENST00000570156.2	Silent	SNP	1 : 228481232 - 228481232 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	549	92
KCNH7	90134	broad.mit.edu	37	2	163256740	163256740	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163256740G>T	ENST00000332142.5	-	10	2465	c.2366C>A	c.(2365-2367)tCc>tAc	p.S789Y		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	789					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AATTTCAATGGAGCCTCTGGA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(196;1492 2208 17507 24132 45496)							NA				0													111	112	112			NA	NA	2		NA											NA				163256740		2203	4300	6503	SO:0001583	missense			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611	90134	90134		Potassium channels, Voltage-gated ion channels / Potassium channels	18863	protein-coding gene	gene with protein product		608169			NA	16382104	Standard	NM_033272	NM_173162	NA	Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2366C>A	2.37:g.163256740G>T	ENSP00000331727:p.Ser789Tyr	NA	Q53QU4|Q53TB7|Q53TP9|Q8IV15	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635925	0.87760	.	.	ENSG00000184611	ENST00000332142	D	0.92965	-3.14	5.82	5.82	0.92795	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.96772	0.8946	M	0.87617	2.895	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	D	0.96840	0.9617	10	0.87932	D	0	.	20.099	0.97865	0.0:0.0:1.0:0.0	.	789	Q9NS40	KCNH7_HUMAN	Y	789	ENSP00000331727:S789Y	ENSP00000331727:S789Y	S	-	2	0	KCNH7	162964986	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.855000	0.99526	2.752000	0.94435	0.655000	0.94253	TCC	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255093.1		-	ENST00000332142.5	Missense_Mutation	SNP	2 : 163256740 - 163256740 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	638	96
C9orf37	0	broad.mit.edu	37	9	140510210	140510210	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140510210G>A	ENST00000371417.3	-	3	982	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	C9orf37_ENST00000496793.1_5'UTR	NM_032937.4	NP_116326.2	Q9H2J1	CI037_HUMAN		148										breast(1)|large_intestine(2)	3	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		AGGTCCCTCCGACAGGAGACC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG	0,4404		0,0,2202	32	30	31		442	-3.6	0	9		31	1,8599	1.2+/-3.3	0,1,4299	no	missense	C9orf37	NM_032937.4	101	0,1,6501	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	148/177	140510210	1,13003	2202	4300	6502	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000371417.3:c.442C>T	9.37:g.140510210G>A	ENSP00000360471:p.Arg148Trp	NA	Q17RM5|Q5T368	37	CCDS35189.1	.	.	.	.	.	.	.	.	.	.	G	9.533	1.111259	0.20714	0.0	1.16E-4	ENSG00000203993	ENST00000371417	.	.	.	1.8	-3.61	0.04556	.	.	.	.	.	T	0.15089	0.0364	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19224	-1.0312	8	0.87932	D	0	.	3.1811	0.06584	0.2721:0.0:0.4737:0.2542	.	148	Q9H2J1	CI037_HUMAN	W	148	.	ENSP00000360471:R148W	R	-	1	2	C9orf37	139630031	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.872000	0.01639	-0.726000	0.04895	-0.734000	0.03567	CGG	C9orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055328.1		-	ENST00000371417.3	Missense_Mutation	SNP	9 : 140510210 - 140510210 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	189	37
DHCR7	1717	broad.mit.edu	37	11	71146496	71146496	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71146496G>A	ENST00000355527.3	-	9	1629	c.1353C>T	c.(1351-1353)tgC>tgT	p.C451C	DHCR7_ENST00000407721.2_Silent_p.C451C	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	451					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	ACTTGCTGGCGCAGCGGTGCT	0.662		NA							Smith-Lemli-Opitz syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	43	42			NA	NA	11		NA											NA				71146496		2197	4293	6490	SO:0001819	synonymous_variant	Familial Cancer Database	SLOS type I & II	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1717	1717	1.3.1.21		2860	protein-coding gene	gene with protein product		602858	Smith-Lemli-Opitz syndrome	SLOS	NA	9465114, 9634533	Standard	NM_001360	NM_001360	NA	Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.1353C>T	11.37:g.71146496G>A		NA	O60492|O60717	37	CCDS8200.1																																																																																			DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394243.1		-	ENST00000355527.3	Silent	SNP	11 : 71146496 - 71146496 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	496	23
WARS	7453	broad.mit.edu	37	14	100826997	100826997	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100826997G>A	ENST00000355338.2	-	4	934	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	WARS_ENST00000344102.5_Missense_Mutation_p.R65W|WARS_ENST00000554084.1_5'UTR|WARS_ENST00000557135.1_Missense_Mutation_p.R106W|WARS_ENST00000556645.1_Missense_Mutation_p.R65W|WARS_ENST00000358655.4_Missense_Mutation_p.R65W|WARS_ENST00000392882.2_Missense_Mutation_p.R106W	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	106					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CTTCCAAACCGAACTGGAAAA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	141	144			NA	NA	14		NA											NA				100826997		2203	4300	6503	SO:0001583	missense			M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	7453	7453	6.1.1.2	Aminoacyl tRNA synthetases / Class I	12729	protein-coding gene	gene with protein product	tryptophan tRNA ligase 1, cytoplasmic	191050		IFI53	NA	1537332, 1763065	Standard	NM_004184	NM_004184	NA	Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.316C>T	14.37:g.100826997G>A	ENSP00000347495:p.Arg106Trp	NA	A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	37	CCDS9960.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.469492	0.43839	.	.	ENSG00000140105	ENST00000392882;ENST00000358655;ENST00000355338;ENST00000344102;ENST00000557135;ENST00000556645;ENST00000553395;ENST00000556504;ENST00000557722;ENST00000557297;ENST00000556435;ENST00000556338;ENST00000556698;ENST00000553524;ENST00000555410;ENST00000554772;ENST00000556660;ENST00000553413	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;1.67;1.57	5.46	4.57	0.56435	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.071226	0.64402	D	0.000011	T	0.75649	0.3878	M	0.88640	2.97	0.51767	D	0.99993	P	0.50819	0.939	B	0.41412	0.356	T	0.81858	-0.0739	10	0.87932	D	0	-2.1292	14.3863	0.66947	0.0715:0.0:0.9285:0.0	.	106	P23381	SYWC_HUMAN	W	106;65;106;65;106;65;65;65;106;65;65;65;106;106;140;106;106;106	ENSP00000376620:R106W;ENSP00000351481:R65W;ENSP00000347495:R106W;ENSP00000339485:R65W;ENSP00000451460:R106W;ENSP00000451887:R65W;ENSP00000451490:R65W;ENSP00000451251:R65W;ENSP00000450500:R106W;ENSP00000451599:R65W;ENSP00000452519:R65W;ENSP00000451544:R65W;ENSP00000450427:R106W;ENSP00000451349:R106W;ENSP00000450934:R140W;ENSP00000451469:R106W;ENSP00000451402:R106W;ENSP00000452550:R106W	ENSP00000339485:R65W	R	-	1	2	WARS	99896750	1.000000	0.71417	0.489000	0.27452	0.224000	0.24922	4.645000	0.61404	1.300000	0.44818	-0.150000	0.13652	CGG	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414236.1		-	ENST00000355338.2	Missense_Mutation	SNP	14 : 100826997 - 100826997 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	333	64
MYH8	4626	broad.mit.edu	37	17	10304205	10304205	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10304205T>A	ENST00000403437.2	-	26	3420	c.3326A>T	c.(3325-3327)aAg>aTg	p.K1109M	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1109					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTTGATCTTCTTCTGTAGTTG	0.343		NA							Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	62	63			NA	NA	17		NA											NA				10304205		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020	4626	4626		Myosins / Myosin superfamily : Class II	7578	protein-coding gene	gene with protein product		160741	myosin, heavy polypeptide 8, skeletal muscle, perinatal		NA	2373371	Standard	NM_002472	NM_002472	NA	Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3326A>T	17.37:g.10304205T>A	ENSP00000384330:p.Lys1109Met	NA	Q14910	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	T	18.47	3.631872	0.67015	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.81659	-1.52	5.38	5.38	0.77491	Myosin tail (1);	0.000000	0.43747	U	0.000537	D	0.92593	0.7647	H	0.95712	3.71	0.58432	D	0.999996	D	0.89917	1.0	D	0.76575	0.988	D	0.94676	0.7861	10	0.87932	D	0	.	15.5555	0.76189	0.0:0.0:0.0:1.0	.	1109	P13535	MYH8_HUMAN	M	1109	ENSP00000384330:K1109M	ENSP00000252173:K1109M	K	-	2	0	MYH8	10244930	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.995000	0.70631	2.255000	0.74692	0.533000	0.62120	AAG	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252724.2		-	ENST00000403437.2	Missense_Mutation	SNP	17 : 10304205 - 10304205 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	13
RNF113B	140432	broad.mit.edu	37	13	98828993	98828993	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:98828993G>A	ENST00000267291.6	-	1	526	c.498C>T	c.(496-498)aaC>aaT	p.N166N	FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000319562.6_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	166							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CCGAGGAGGAGTTGCCCATGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	70	74			NA	NA	13		NA											NA				98828993		2203	4300	6503	SO:0001819	synonymous_variant			AF539427	CCDS9486.1	13q32.2	2006-08-22	2005-03-22	2005-03-22	ENSG00000139797	ENSG00000139797	140432	140432		RING-type (C3HC4) zinc fingers	17267	protein-coding gene	gene with protein product			zinc finger protein 183-like 1	ZNF183L1	NA		Standard	NM_178861	NM_178861	NA	Approved	RNF161	uc001vnk.3	Q8IZP6	OTTHUMG00000017245	ENST00000267291.6:c.498C>T	13.37:g.98828993G>A		NA	Q8WWF9|Q96QY9	37	CCDS9486.1																																																																																			RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045536.3		-	ENST00000267291.6	Silent	SNP	13 : 98828993 - 98828993 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	386	72
TTN	7273	broad.mit.edu	37	2	179474270	179474270	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179474270C>A	ENST00000589042.1	-	273	51991	c.51767G>T	c.(51766-51768)aGc>aTc	p.S17256I	TTN_ENST00000342992.6_Missense_Mutation_p.S14688I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S15615I|TTN_ENST00000342175.6_Missense_Mutation_p.S8383I|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S8316I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S8191I|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15615	Fibronectin type-III 25.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTTCTAGGCTTGTTCTCAG	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	107	109			NA	NA	2		NA											NA				179474270		1856	4099	5955	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.51767G>T	2.37:g.179474270C>A	ENSP00000467141:p.Ser17256Ile	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908248	0.33721	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.85	4.93	0.64822	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52468	0.1736	L	0.61036	1.89	0.41827	D	0.99005	P;P;P;P	0.38677	0.642;0.642;0.642;0.642	P;P;P;P	0.48425	0.577;0.577;0.577;0.577	T	0.56147	-0.8027	9	0.87932	D	0	.	13.7731	0.63038	0.0:0.8119:0.1204:0.0677	.	8191;8316;8383;15615	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	14688;8191;8383;8316;8191	ENSP00000343764:S14688I;ENSP00000434586:S8191I;ENSP00000340554:S8383I;ENSP00000352154:S8316I	ENSP00000340554:S8383I	S	-	2	0	TTN	179182515	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.870000	0.56070	2.753000	0.94483	0.655000	0.94253	AGC	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179474270 - 179474270 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	458	86
ACACB	32	broad.mit.edu	37	12	109637282	109637282	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109637282G>A	ENST00000338432.7	+	18	2822	c.2703G>A	c.(2701-2703)tcG>tcA	p.S901S	ACACB_ENST00000377848.3_Silent_p.S901S|ACACB_ENST00000377854.5_Silent_p.S901S			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	901	Biotinyl-binding.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GATCCCCCTCGGCTGGGAAGC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	111	112			NA	NA	12		NA											NA				109637282		2203	4300	6503	SO:0001819	synonymous_variant			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	32	32	6.4.1.2		85	protein-coding gene	gene with protein product	acetyl-CoA carboxylase 2	601557	acetyl-Coenzyme A carboxylase beta		NA	8670171	Standard	NM_001093	NM_001093	NA	Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2703G>A	12.37:g.109637282G>A		NA	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	37	CCDS31898.1																																																																																			ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403077.1		+	ENST00000338432.7	Silent	SNP	12 : 109637282 - 109637282 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	579	93
TENM4	26011	broad.mit.edu	37	11	78372542	78372542	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:78372542G>A	ENST00000278550.7	-	33	7965	c.7503C>T	c.(7501-7503)taC>taT	p.Y2501Y		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4	NA											NA						GGATGAGCTCGTAGGAGGGTT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4015		0,1,2007	99	96	97		7503	-9	0.2	11		97	0,8352		0,0,4176	no	coding-synonymous	ODZ4	NM_001098816.2		0,1,6183	AA,AG,GG	NA	0.0,0.0249,0.0081		2501/2770	78372542	1,12367	2008	4176	6184	SO:0001819	synonymous_variant			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256	26011	26011			29945	protein-coding gene	gene with protein product		610084	odz, odd Oz/ten-m homolog 4 (Drosophila)	ODZ4	NA	12000766, 10625539	Standard		NM_001098816	NA	Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.7503C>T	11.37:g.78372542G>A		NA		37	CCDS44688.1																																																																																			TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391406.2		-	ENST00000278550.7	Silent	SNP	11 : 78372542 - 78372542 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	81	11
CACNA1C	775	broad.mit.edu	37	12	2795339	2795339	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2795339G>A	ENST00000399655.1	+	45	5953	c.5688G>A	c.(5686-5688)agG>agA	p.R1896R	CACNA1C_ENST00000399629.1_Silent_p.R1913R|CACNA1C_ENST00000335762.5_Silent_p.R1921R|CACNA1C_ENST00000399649.1_Silent_p.R1902R|CACNA1C_ENST00000399644.1_Silent_p.R1896R|CACNA1C_ENST00000327702.7_Silent_p.R1931R|CACNA1C_ENST00000399603.1_Silent_p.R1896R|CACNA1C_ENST00000344100.3_Silent_p.R1937R|CACNA1C_ENST00000399638.1_Silent_p.R1924R|CACNA1C_ENST00000399591.1_Silent_p.R1904R|CACNA1C_ENST00000399641.1_Silent_p.R1896R|CACNA1C_ENST00000399601.1_Silent_p.R1896R|CACNA1C_ENST00000399606.1_Silent_p.R1916R|CACNA1C_ENST00000402845.3_Silent_p.R1915R|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399617.1_Silent_p.R1931R|CACNA1C_ENST00000399597.1_Silent_p.R1896R|CACNA1C_ENST00000399621.1_Silent_p.R1915R|CACNA1C_ENST00000347598.4_Silent_p.R1944R|CACNA1C_ENST00000399595.1_Silent_p.R1904R|CACNA1C_ENST00000399634.1_Silent_p.R1967R|CACNA1C_ENST00000406454.3_Silent_p.R1967R|CACNA1C_ENST00000399637.1_Silent_p.R1915R	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1979					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CAGGTCGAAGGGCCTCCTTCC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	88	86			NA	NA	12		NA											NA				2795339		2010	4178	6188	SO:0001819	synonymous_variant			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067	775	775		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1	NA	1650913, 16382099	Standard	NM_000719	NM_001129832	NA	Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000399655.1:c.5688G>A	12.37:g.2795339G>A		NA	B2RUT3|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	37	CCDS44794.1																																																																																			CACNA1C-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317019.2		+	ENST00000399655.1	Silent	SNP	12 : 2795339 - 2795339 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	462	72
ZNF114	163071	broad.mit.edu	37	19	48785680	48785680	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48785680C>T	ENST00000595607.1	+	5	556	c.62C>T	c.(61-63)aCc>aTc	p.T21I	ZNF114_ENST00000600687.1_Missense_Mutation_p.T21I|ZNF114_ENST00000597695.1_5'UTR|ZNF114_ENST00000315849.1_Missense_Mutation_p.T21I			Q8NC26	ZN114_HUMAN	zinc finger protein 114	21	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		GAGGAGTGGACCCTGCTGGAC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	138	138			NA	NA	19		NA											NA				48785680		2203	4300	6503	SO:0001583	missense			BC014935	CCDS12713.1, CCDS74412.1	19q13.32	2013-01-08			ENSG00000178150	ENSG00000178150	163071	163071		Zinc fingers, C2H2-type, -	12894	protein-coding gene	gene with protein product		603996			NA		Standard	NM_153608	XM_005258580	NA	Approved	MGC17986	uc002pim.1	Q8NC26		ENST00000595607.1:c.62C>T	19.37:g.48785680C>T	ENSP00000469998:p.Thr21Ile	NA	A8K6B0|Q08AQ6	37	CCDS12713.1	.	.	.	.	.	.	.	.	.	.	C	8.235	0.805445	0.16467	.	.	ENSG00000178150	ENST00000315849	T	0.01787	4.64	2.26	1.16	0.20824	Krueppel-associated box (4);	.	.	.	.	T	0.03608	0.0103	L	0.41961	1.31	0.09310	N	1	D	0.59357	0.985	P	0.55749	0.783	T	0.47394	-0.9121	9	0.39692	T	0.17	.	6.6534	0.22975	0.5111:0.4889:0.0:0.0	.	21	Q8NC26	ZN114_HUMAN	I	21	ENSP00000318898:T21I	ENSP00000318898:T21I	T	+	2	0	ZNF114	53477492	0.001000	0.12720	0.107000	0.21349	0.464000	0.32679	0.005000	0.13129	0.495000	0.27882	0.205000	0.17691	ACC	ZNF114-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465601.1		+	ENST00000595607.1	Missense_Mutation	SNP	19 : 48785680 - 48785680 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	853	142
FBRS	64319	broad.mit.edu	37	16	30680146	30680146	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30680146G>A	ENST00000356166.6	+	17	3300	c.2212G>A	c.(2212-2214)Gcc>Acc	p.A738T	FBRS_ENST00000287468.5_Missense_Mutation_p.A218T|FBRS_ENST00000395073.2_Missense_Mutation_p.A130T|FBRS_ENST00000568722.1_Missense_Mutation_p.A130T			Q9HAH7	FBRS_HUMAN	fibrosin	218										ovary(1)	1			Colorectal(24;0.103)			ACCAGCCTTCGCCTCCCCACC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	16	14			NA	NA	16		NA											NA				30680146		2185	4283	6468	SO:0001583	missense			AK021680		16p11.2	2008-02-05	2007-04-18	2007-04-18	ENSG00000156860	ENSG00000156860	64319	64319			20442	protein-coding gene	gene with protein product		608601	fibrosin 1	FBS1	NA	7892239, 9809749	Standard	NM_022452	NM_001105079	NA	Approved	FBS, FLJ11618	uc002dzd.4	Q9HAH7	OTTHUMG00000132390	ENST00000356166.6:c.2212G>A	16.37:g.30680146G>A	ENSP00000348489:p.Ala738Thr	NA	B4DP86|Q96CI9|Q9H9X4	37		.	.	.	.	.	.	.	.	.	.	G	14.01	2.408585	0.42715	.	.	ENSG00000156860	ENST00000356166;ENST00000287468;ENST00000395073	T	0.32515	1.45	5.48	5.48	0.80851	.	0.166295	0.37715	N	0.001969	T	0.22859	0.0552	L	0.29908	0.895	0.29528	N	0.852992	B	0.26400	0.148	B	0.16722	0.016	T	0.10314	-1.0635	10	0.41790	T	0.15	-5.1837	13.0397	0.58891	0.0:0.2736:0.7264:0.0	.	218	Q9HAH7	FBRS_HUMAN	T	738;218;130	ENSP00000348489:A738T	ENSP00000287468:A218T	A	+	1	0	FBRS	30587647	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.389000	0.44407	2.584000	0.87258	0.561000	0.74099	GCC	FBRS-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000255520.4		+	ENST00000356166.6	Missense_Mutation	SNP	16 : 30680146 - 30680146 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	107	16
PYHIN1	149628	broad.mit.edu	37	1	158911953	158911953	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158911953A>G	ENST00000368140.1	+	5	1011	c.766A>G	c.(766-768)Aac>Gac	p.N256D	PYHIN1_ENST00000368138.3_Missense_Mutation_p.N247D|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Missense_Mutation_p.N247D|PYHIN1_ENST00000392254.2_Missense_Mutation_p.N256D	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	256	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GAAGGTTTTAAACATCAACTT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	61	60			NA	NA	1		NA											NA				158911953		2203	4300	6503	SO:0001583	missense			AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564	149628	149628			28894	protein-coding gene	gene with protein product		612677			NA	15122330	Standard	NM_152501	NM_152501	NA	Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.766A>G	1.37:g.158911953A>G	ENSP00000357122:p.Asn256Asp	NA	Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	37	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	A	6.016	0.371365	0.11409	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.14266	2.52;2.52;2.52;2.52	2.85	-1.2	0.09554	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.03871	0.0109	L	0.41961	1.31	0.09310	N	0.999999	P;P;P;B	0.43477	0.808;0.697;0.808;0.444	B;P;B;B	0.46026	0.357;0.501;0.357;0.373	T	0.29336	-1.0015	9	0.19590	T	0.45	.	3.011	0.06044	0.4912:0.233:0.2758:0.0	.	247;256;247;256	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	D	256;247;256;247	ENSP00000357122:N256D;ENSP00000357120:N247D;ENSP00000376083:N256D;ENSP00000376082:N247D	ENSP00000357120:N247D	N	+	1	0	PYHIN1	157178577	0.002000	0.14202	0.003000	0.11579	0.076000	0.17211	0.161000	0.16481	-0.411000	0.07530	0.533000	0.62120	AAC	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090110.1		+	ENST00000368140.1	Missense_Mutation	SNP	1 : 158911953 - 158911953 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	383	91
CIRH1A	84916	broad.mit.edu	37	16	69199419	69199419	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69199419A>C	ENST00000563094.1	+	15	1857	c.1823A>C	c.(1822-1824)gAc>gCc	p.D608A	CIRH1A_ENST00000352319.4_Missense_Mutation_p.D493A|CIRH1A_ENST00000314423.7_Missense_Mutation_p.D608A			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	608						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		TGCATCATTGACAAGTCATTG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(69;1156 1278 4951 8715 52012)							NA				0													163	123	137			NA	NA	16		NA											NA				69199419		2198	4300	6498	SO:0001583	missense			AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076	84916	84916		WD repeat domain containing	1983	protein-coding gene	gene with protein product	UTP4, small subunit (SSU) processome component, homolog (yeast)	607456			NA	10820129, 20385600	Standard	NM_032830	NM_032830	NA	Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000563094.1:c.1823A>C	16.37:g.69199419A>C	ENSP00000456622:p.Asp608Ala	NA	Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	37		.	.	.	.	.	.	.	.	.	.	A	21.9	4.218425	0.79464	.	.	ENSG00000141076	ENST00000314423;ENST00000352319	T;T	0.58060	0.87;0.36	6.17	5.08	0.68730	.	0.044316	0.85682	D	0.000000	T	0.70482	0.3229	M	0.74881	2.28	0.58432	D	0.999995	D;D	0.89917	1.0;0.983	D;P	0.77004	0.989;0.808	T	0.73347	-0.4011	10	0.87932	D	0	.	11.5887	0.50933	0.9297:0.0:0.0703:0.0	.	608;608	Q969X6;Q969X6-3	CIR1A_HUMAN;.	A	608;493	ENSP00000327179:D608A;ENSP00000339164:D493A	ENSP00000327179:D608A	D	+	2	0	CIRH1A	67756920	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.048000	0.89442	1.146000	0.42352	0.533000	0.62120	GAC	CIRH1A-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000433342.1		+	ENST00000563094.1	Missense_Mutation	SNP	16 : 69199419 - 69199419 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	224	43
ACRBP	84519	broad.mit.edu	37	12	6753468	6753468	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6753468G>T	ENST00000229243.2	-	5	872	c.779C>A	c.(778-780)tCt>tAt	p.S260Y	ACRBP_ENST00000414226.2_Missense_Mutation_p.S227Y|ACRBP_ENST00000536350.1_Missense_Mutation_p.S260Y	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	260						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						AGAAGATAGAGATTCAGAGTG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													186	157	167			NA	NA	12		NA											NA				6753468		2203	4300	6503	SO:0001583	missense			AB051833	CCDS8554.1	12p13.31	2009-03-12			ENSG00000111644	ENSG00000111644	84519	84519			17195	protein-coding gene	gene with protein product	proacrosin binding protein sp32, cancer/testis antigen 23	608352			NA	11248070	Standard	NM_032489	NM_032489	NA	Approved	SP32, OY-TES-1, CT23	uc001qpu.1	Q8NEB7	OTTHUMG00000168715	ENST00000229243.2:c.779C>A	12.37:g.6753468G>T	ENSP00000229243:p.Ser260Tyr	NA	Q9BY87	37	CCDS8554.1	.	.	.	.	.	.	.	.	.	.	G	2.439	-0.329000	0.05314	.	.	ENSG00000111644	ENST00000229243;ENST00000414226;ENST00000536350	T;T	0.52057	0.68;0.79	3.48	1.42	0.22433	.	0.652572	0.14230	N	0.332834	T	0.35008	0.0917	L	0.54323	1.7	0.09310	N	1	B;B	0.26935	0.047;0.164	B;B	0.21917	0.037;0.037	T	0.23261	-1.0193	10	0.12766	T	0.61	-6.0415	6.3572	0.21408	0.2096:0.0:0.7904:0.0	.	227;260	E7EP66;Q8NEB7	.;ACRBP_HUMAN	Y	260;227;260	ENSP00000229243:S260Y;ENSP00000402725:S227Y	ENSP00000229243:S260Y	S	-	2	0	ACRBP	6623729	0.036000	0.19791	0.001000	0.08648	0.187000	0.23431	1.590000	0.36654	0.348000	0.23949	0.491000	0.48974	TCT	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400703.1		-	ENST00000229243.2	Missense_Mutation	SNP	12 : 6753468 - 6753468 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	281	13
SPPL2C	162540	broad.mit.edu	37	17	43923407	43923407	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43923407C>T	ENST00000329196.5	+	1	1152	c.1135C>T	c.(1135-1137)Ctg>Ttg	p.L379L	MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000579599.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	379						integral to membrane	aspartic-type endopeptidase activity				NA						CTCCTCCTTCCTGCTGGCCCT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	71	71			NA	NA	17		NA											NA				43923407		2203	4300	6503	SO:0001819	synonymous_variant				CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294	162540	162540			28902	protein-coding gene	gene with protein product	intramembrane protease 5	608284			NA	12139484	Standard	NM_175882	NM_175882	NA	Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.1135C>T	17.37:g.43923407C>T		NA	Q8TC67|Q8WVZ6	37	CCDS32673.1																																																																																			SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000441156.1		+	ENST00000329196.5	Silent	SNP	17 : 43923407 - 43923407 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	278	54
JUND	3727	broad.mit.edu	37	19	18391375	18391375	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18391375T>C	ENST00000252818.3	-	1	1057	c.920A>G	c.(919-921)aAc>aGc	p.N307S		NM_005354.4	NP_005345.3	P17535	JUND_HUMAN	jun D proto-oncogene	307	Leucine-zipper.				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			lung(2)|prostate(1)	3						CAGCTCCGTGTTCTGACTCTT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	21	21			NA	NA	19		NA											NA				18391375		2202	4297	6499	SO:0001583	missense				CCDS32959.1	19p13.2	2013-01-10				ENSG00000130522	3727	3727		basic leucine zipper proteins	6206	protein-coding gene	gene with protein product	transcription factor jun-D, JunD-FL isoform, activator protein 1	165162			NA	2112242, 1903194	Standard	NM_005354	NM_005354	NA	Approved	AP-1	uc002nip.2	P17535		ENST00000252818.3:c.920A>G	19.37:g.18391375T>C	ENSP00000252818:p.Asn307Ser	NA	Q53EK9	37	CCDS32959.1	.	.	.	.	.	.	.	.	.	.	.	19.21	3.784443	0.70222	.	.	ENSG00000130522	ENST00000252818	T	0.71579	-0.58	3.2	3.2	0.36748	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	U	0.000000	T	0.81216	0.4776	M	0.76433	2.335	0.54753	D	0.999989	D	0.76494	0.999	D	0.85130	0.997	T	0.82484	-0.0434	10	0.87932	D	0	.	9.7586	0.40519	0.0:0.0:0.0:1.0	.	307	P17535	JUND_HUMAN	S	307	ENSP00000252818:N307S	ENSP00000252818:N307S	N	-	2	0	JUND	18252375	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	7.192000	0.77771	1.465000	0.48006	0.375000	0.23000	AAC	JUND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466318.2		-	ENST00000252818.3	Missense_Mutation	SNP	19 : 18391375 - 18391375 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	182	37
FCRL5	83416	broad.mit.edu	37	1	157514222	157514222	+	Missense_Mutation	SNP	C	C	T	rs138632023		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157514222C>T	ENST00000361835.3	-	5	831	c.674G>A	c.(673-675)cGg>cAg	p.R225Q	FCRL5_ENST00000368191.3_Missense_Mutation_p.R140Q|FCRL5_ENST00000356953.4_Missense_Mutation_p.R225Q|FCRL5_ENST00000368190.3_Missense_Mutation_p.R225Q|FCRL5_ENST00000368189.3_Missense_Mutation_p.R225Q	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	225	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GAAGCGGAACCGGAGCGGGAC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	106	112	110		674,674	-3.4	0	1	dbSNP_134	110	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FCRL5	NM_001195388.1,NM_031281.2	43,43	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign,benign	225/999,225/978	157514222	1,13005	2203	4300	6503	SO:0001583	missense			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297	83416	83416		CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	18508	protein-coding gene	gene with protein product		605877			NA	11027651, 11290337	Standard	NM_031281	NM_031281	NA	Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.674G>A	1.37:g.157514222C>T	ENSP00000354691:p.Arg225Gln	NA	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	37	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	C	1.326	-0.598003	0.03771	0.0	1.16E-4	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76	4.11	-3.42	0.04825	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.411730	0.01206	N	0.007709	T	0.00524	0.0017	N	0.00471	-1.455	0.09310	N	0.999999	B;B;B;B;B	0.17667	0.02;0.018;0.022;0.023;0.022	B;B;B;B;B	0.11329	0.003;0.002;0.006;0.003;0.006	T	0.38802	-0.9644	10	0.02654	T	1	.	3.2017	0.06652	0.2813:0.2646:0.0:0.4541	.	140;225;225;225;225	F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;FCRL5_HUMAN	Q	225;225;225;140;225	ENSP00000354691:R225Q;ENSP00000349434:R225Q;ENSP00000357173:R225Q;ENSP00000357174:R140Q;ENSP00000357172:R225Q	ENSP00000349434:R225Q	R	-	2	0	FCRL5	155780846	0.001000	0.12720	0.018000	0.16275	0.005000	0.04900	-0.450000	0.06803	-0.872000	0.04037	-0.624000	0.04008	CGG	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046263.1		-	ENST00000361835.3	Missense_Mutation	SNP	1 : 157514222 - 157514222 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	915	152
RASSF5	83593	broad.mit.edu	37	1	206730965	206730965	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206730965T>C	ENST00000304534.8	+	1	473	c.64T>C	c.(64-66)Ttc>Ctc	p.F22L	RASSF5_ENST00000367117.3_Intron|RASSF5_ENST00000355294.4_Intron	NM_182665.2	NP_872606.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	0					apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GGAAGACTGCTTCTTCACTGC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(162;656 1984 11916 22872 31529)							NA				0													103	96	99			NA	NA	1		NA											NA				206730965		2203	4300	6503	SO:0001583	missense			BC004270	CCDS1463.1, CCDS1464.1, CCDS30998.1	1q31	2014-04-10	2008-02-22		ENSG00000136653	ENSG00000266094	83593	83593			17609	protein-coding gene	gene with protein product		607020			NA	11978988, 11965544	Standard	NM_031437	NM_182663	NA	Approved	Maxp1, NORE1, RAPL	uc001hed.3	Q8WWW0	OTTHUMG00000184616	ENST00000304534.8:c.64T>C	1.37:g.206730965T>C	ENSP00000306091:p.Phe22Leu	NA	A8K1E6|Q5SY32|Q8WWV9|Q8WXF4|Q9BT99	37	CCDS1464.1	.	.	.	.	.	.	.	.	.	.	T	33	5.249772	0.95305	.	.	ENSG00000136653	ENST00000304534	T	0.15718	2.4	5.25	5.25	0.73442	.	.	.	.	.	T	0.36717	0.0977	L	0.60455	1.87	0.39485	D	0.967942	D	0.67145	0.996	D	0.70935	0.971	T	0.20874	-1.0262	9	0.72032	D	0.01	.	13.1024	0.59228	0.0:0.0:0.0:1.0	.	22	Q8WWW0-2	.	L	22	ENSP00000306091:F22L	ENSP00000306091:F22L	F	+	1	0	RASSF5	204797588	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.559000	0.73946	1.972000	0.57404	0.533000	0.62120	TTC	RASSF5-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088471.1		+	ENST00000304534.8	Missense_Mutation	SNP	1 : 206730965 - 206730965 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	438	21
PCDH12	51294	broad.mit.edu	37	5	141337392	141337392	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141337392G>T	ENST00000231484.3	-	1	1235	c.25C>A	c.(25-27)Ctg>Atg	p.L9M		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	9					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAAGCCCCAGCAGAAGTTGC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	69	67			NA	NA	5		NA											NA				141337392		2203	4300	6503	SO:0001583	missense			AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555	51294	51294		Cadherins / Protocadherins : Non-clustered	8657	protein-coding gene	gene with protein product		605622			NA	10716726, 10380929	Standard	NM_016580	NM_016580	NA	Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.25C>A	5.37:g.141337392G>T	ENSP00000231484:p.Leu9Met	NA	Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	37	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.817293	0.50633	.	.	ENSG00000113555	ENST00000231484;ENST00000510041	T	0.55588	0.51	4.72	3.83	0.44106	.	0.089843	0.46758	D	0.000273	T	0.63307	0.2500	L	0.54323	1.7	0.30373	N	0.782712	D	0.76494	0.999	D	0.68765	0.96	T	0.61322	-0.7086	10	0.46703	T	0.11	.	10.9922	0.47555	0.0943:0.0:0.9057:0.0	.	9	Q9NPG4	PCD12_HUMAN	M	9	ENSP00000231484:L9M	ENSP00000231484:L9M	L	-	1	2	PCDH12	141317576	0.526000	0.26298	1.000000	0.80357	0.956000	0.61745	0.819000	0.27308	2.465000	0.83290	0.462000	0.41574	CTG	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251858.1		-	ENST00000231484.3	Missense_Mutation	SNP	5 : 141337392 - 141337392 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	533	15
FRMD8	83786	broad.mit.edu	37	11	65172384	65172384	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65172384C>T	ENST00000317568.5	+	10	1284	c.1121C>T	c.(1120-1122)gCg>gTg	p.A374V	FRMD8_ENST00000355991.5_Missense_Mutation_p.A318V|FRMD8_ENST00000416776.2_Missense_Mutation_p.A340V	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	374	FERM.					cytoskeleton	binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						CTGAGCCAGGCGGCGGAGCCC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	34	33			NA	NA	11		NA											NA				65172384		2201	4297	6498	SO:0001583	missense			AK074850	CCDS8102.1, CCDS73320.1	11q13.1	2007-08-14			ENSG00000126391	ENSG00000126391	83786	83786			25462	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_031904	NM_031904	NA	Approved	FLJ90369, FKSG44	uc001odu.4	Q9BZ67	OTTHUMG00000166275	ENST00000317568.5:c.1121C>T	11.37:g.65172384C>T	ENSP00000319726:p.Ala374Val	NA	Q86V56|Q8NCB5	37	CCDS8102.1	.	.	.	.	.	.	.	.	.	.	C	8.382	0.837694	0.16891	.	.	ENSG00000126391	ENST00000317568;ENST00000355991;ENST00000416776	D;T;D	0.83506	-1.73;-1.14;-1.73	5.09	4.17	0.49024	FERM domain (1);	0.730035	0.12832	N	0.435558	T	0.71888	0.3393	N	0.16478	0.41	0.09310	N	1	B;B;B	0.24721	0.002;0.04;0.11	B;B;B	0.17722	0.001;0.019;0.006	T	0.54918	-0.8221	10	0.27785	T	0.31	-0.2797	14.7452	0.69485	0.0:0.9198:0.0:0.0802	.	340;318;374	B4E2P1;Q9BZ67-2;Q9BZ67	.;.;FRMD8_HUMAN	V	374;318;340	ENSP00000319726:A374V;ENSP00000348270:A318V;ENSP00000392111:A340V	ENSP00000319726:A374V	A	+	2	0	FRMD8	64928960	0.940000	0.31905	0.293000	0.24932	0.005000	0.04900	2.398000	0.44486	0.659000	0.30945	-0.797000	0.03246	GCG	FRMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388833.1		+	ENST00000317568.5	Missense_Mutation	SNP	11 : 65172384 - 65172384 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	55
SIPA1L1	26037	broad.mit.edu	37	14	72090900	72090900	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:72090900G>A	ENST00000358550.2	+	4	2715	c.1765G>A	c.(1765-1767)Gcc>Acc	p.A589T	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.A64T|SIPA1L1_ENST00000555818.1_Missense_Mutation_p.A589T|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.A589T	NM_001284246.1	NP_001271175.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	589					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CCTGCGGTTGGCCTTCAACAC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	132	142			NA	NA	14		NA											NA				72090900		2203	4300	6503	SO:0001583	missense			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555	26037	26037			20284	protein-coding gene	gene with protein product					NA	9858596	Standard	NM_015556	XM_005267514	NA	Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000358550.2:c.1765G>A	14.37:g.72090900G>A	ENSP00000351352:p.Ala589Thr	NA	O95321|Q9UDU4|Q9UNU4	37		.	.	.	.	.	.	.	.	.	.	G	35	5.453277	0.96223	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413;ENST00000555066	D;D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3;-3.3	5.29	5.29	0.74685	.	0.043925	0.85682	D	0.000000	D	0.97204	0.9086	M	0.87682	2.9	0.80722	D	1	D;D;D;D;P	0.89917	1.0;0.958;1.0;1.0;0.455	D;P;D;D;B	0.97110	0.999;0.767;1.0;0.997;0.091	D	0.97588	1.0115	10	0.87932	D	0	-25.7563	19.12	0.93358	0.0:0.0:1.0:0.0	.	64;589;64;589;589	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	T	589;589;589;64;90	ENSP00000370630:A589T;ENSP00000450832:A589T;ENSP00000351352:A589T;ENSP00000440682:A64T;ENSP00000452450:A90T	ENSP00000351352:A589T	A	+	1	0	SIPA1L1	71160653	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	9.657000	0.98554	2.752000	0.94435	0.655000	0.94253	GCC	SIPA1L1-001	NOVEL	NAGNAG_splice_site|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000412807.1		+	ENST00000358550.2	Missense_Mutation	SNP	14 : 72090900 - 72090900 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	503	86
NUP214	8021	broad.mit.edu	37	9	134074085	134074085	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134074085C>T	ENST00000359428.5	+	29	5348	c.5204C>T	c.(5203-5205)tCg>tTg	p.S1735L	NUP214_ENST00000411637.2_Missense_Mutation_p.S1725L|NUP214_ENST00000483497.2_Missense_Mutation_p.S561L|NUP214_ENST00000451030.1_Missense_Mutation_p.S1736L			P35658	NU214_HUMAN	nucleoporin 214kDa	1735	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TTTGGGCAGTCGGCGAGCAGT	0.592		NA	T	DEK, SET, ABL1	AML, T-ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(4;24 48 25510 30394 32571)		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0													74	69	71			NA	NA	9		NA											NA				134074085		2203	4300	6503	SO:0001583	missense			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883	8021	8021			8064	protein-coding gene	gene with protein product	nuclear pore complex protein Nup214, CAN protein, putative oncogene	114350	nucleoporin 214kD (CAIN)		NA	8108440, 2370860	Standard	NM_005085	NM_005085	NA	Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.5204C>T	9.37:g.134074085C>T	ENSP00000352400:p.Ser1735Leu	NA	A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	37	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.302729	0.23736	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497	T;T;T;T	0.39592	1.45;1.07;1.07;1.07	5.57	3.73	0.42828	.	0.861453	0.09604	N	0.779888	T	0.19087	0.0458	N	0.08118	0	0.09310	N	1	P;P;P;P;P	0.48230	0.769;0.801;0.882;0.668;0.907	B;B;B;B;B	0.33295	0.128;0.09;0.128;0.09;0.161	T	0.04191	-1.0970	10	0.51188	T	0.08	0.0048	6.7765	0.23622	0.0:0.6975:0.1453:0.1572	.	561;1164;1329;1725;1735	B7ZAV2;F5H131;Q5JUP9;P35658-4;P35658	.;.;.;.;NU214_HUMAN	L	1735;1725;1736;1714;1329;1164;561	ENSP00000352400:S1735L;ENSP00000396576:S1725L;ENSP00000405014:S1736L;ENSP00000436793:S561L	ENSP00000352400:S1735L	S	+	2	0	NUP214	133063906	0.738000	0.28186	0.036000	0.18154	0.094000	0.18550	2.484000	0.45242	0.724000	0.32296	0.462000	0.41574	TCG	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054694.2		+	ENST00000359428.5	Missense_Mutation	SNP	9 : 134074085 - 134074085 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	507	91
MYO9A	4649	broad.mit.edu	37	15	72146772	72146772	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72146772G>A	ENST00000564571.1	-	35	6451	c.6292C>T	c.(6292-6294)Cga>Tga	p.R2098*	MYO9A_ENST00000424560.1_Nonsense_Mutation_p.R2169*|MYO9A_ENST00000356056.5_Nonsense_Mutation_p.R2098*|MYO9A_ENST00000444904.1_Nonsense_Mutation_p.R2079*			B2RTY4	MYO9A_HUMAN	myosin IXA	2098	Rho-GAP.|Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCAGACTTTCGATAAATACCT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	149	151			NA	NA	15		NA											NA				72146772		2199	4297	6496	SO:0001587	stop_gained			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933	4649	4649		Myosins / Myosin superfamily : Class IX	7608	protein-coding gene	gene with protein product		604875			NA	10409426	Standard	NM_006901	NM_006901	NA	Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000564571.1:c.6292C>T	15.37:g.72146772G>A	ENSP00000456192:p.Arg2098*	NA	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	37		.	.	.	.	.	.	.	.	.	.	G	42	9.510016	0.99190	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2853	0.66243	0.0:0.0:0.7534:0.2466	.	.	.	.	X	2098;2169;2079	.	ENSP00000348349:R2098X	R	-	1	2	MYO9A	69933826	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.124000	0.42006	2.843000	0.97960	0.591000	0.81541	CGA	MYO9A-015	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000420905.1		-	ENST00000564571.1	Nonsense_Mutation	SNP	15 : 72146772 - 72146772 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	909	166
SLC36A4	120103	broad.mit.edu	37	11	92917667	92917667	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92917667G>A	ENST00000529184.1	-	0	407				SLC36A4_ENST00000326402.4_Missense_Mutation_p.H67Y			Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	NA					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTAAGAAGGTGCATAAGAGTT	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	149	147			NA	NA	11		NA											NA				92917667		2201	4298	6499	SO:0001623	5_prime_UTR_variant			AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773	120103	120103		Solute carriers	19660	protein-coding gene	gene with protein product		613760			NA		Standard		XM_005273758	NA	Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000529184.1:c.-178C>T	11.37:g.92917667G>A		NA	Q86X30|Q8IVM5|Q8N8S6	37		.	.	.	.	.	.	.	.	.	.	G	23.2	4.390349	0.82902	.	.	ENSG00000180773	ENST00000326402	T	0.02472	4.28	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.24736	0.0600	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.02588	-1.1137	10	0.87932	D	0	-18.8948	20.2544	0.98414	0.0:0.0:1.0:0.0	.	67	Q6YBV0	S36A4_HUMAN	Y	67	ENSP00000317382:H67Y	ENSP00000317382:H67Y	H	-	1	0	SLC36A4	92557315	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.710000	0.84655	2.885000	0.99019	0.655000	0.94253	CAC	SLC36A4-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000394331.1		-	ENST00000529184.1	5'UTR	SNP	11 : 92917667 - 92917667 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	568	150
TMEM225	338661	broad.mit.edu	37	11	123753963	123753963	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123753963G>A	ENST00000375026.2	-	4	776	c.560C>T	c.(559-561)tCt>tTt	p.S187F		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	187						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						ATCTTCGATAGAATTCTCAGA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	121	124			NA	NA	11		NA											NA				123753963		2202	4299	6501	SO:0001583	missense			AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300	338661	338661			32390	protein-coding gene	gene with protein product	PMP22 claudin domain containing, protein phosphatase 1, regulatory subunit 154				NA		Standard	NM_001013743	XM_006718832	NA	Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.560C>T	11.37:g.123753963G>A	ENSP00000364166:p.Ser187Phe	NA		37	CCDS31697.1	.	.	.	.	.	.	.	.	.	.	G	8.932	0.963711	0.18583	.	.	ENSG00000204300	ENST00000375026;ENST00000528595	T;T	0.37752	1.22;1.18	3.76	1.77	0.24775	.	0.346611	0.21360	N	0.075801	T	0.30355	0.0762	L	0.27053	0.805	0.09310	N	1	D	0.54601	0.967	P	0.49561	0.615	T	0.10660	-1.0620	10	0.87932	D	0	-9.4676	8.4555	0.32897	0.0:0.0:0.5761:0.4239	.	187	Q6GV28	TM225_HUMAN	F	187;137	ENSP00000364166:S187F;ENSP00000431282:S137F	ENSP00000364166:S187F	S	-	2	0	TMEM225	123259173	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	0.700000	0.25601	0.504000	0.28082	-0.268000	0.10319	TCT	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387260.1		-	ENST00000375026.2	Missense_Mutation	SNP	11 : 123753963 - 123753963 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	407	73
MAST3	23031	broad.mit.edu	37	19	18239701	18239701	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18239701G>A	ENST00000262811.6	+	12	1076	c.1076G>A	c.(1075-1077)cGg>cAg	p.R359Q	MAST3_ENST00000608648.1_3'UTR	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	NA							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GGCCAGTCACGGAGGAAGCCA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	80	79			NA	NA	19		NA											NA				18239701		2014	4177	6191	SO:0001583	missense			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308	23031	23031			19036	protein-coding gene	gene with protein product		612258			NA		Standard	XM_038150	NM_015016	NA	Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.1076G>A	19.37:g.18239701G>A	ENSP00000262811:p.Arg359Gln	NA	Q7LDZ8|Q9UPI0	37	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102796	0.56183	.	.	ENSG00000099308	ENST00000262811	T	0.68479	-0.33	5.27	5.27	0.74061	.	0.236652	0.40818	N	0.001014	T	0.43389	0.1245	N	0.08118	0	0.49483	D	0.999798	B	0.34329	0.449	B	0.20767	0.031	T	0.44128	-0.9348	10	0.18276	T	0.48	-20.9685	17.8957	0.88887	0.0:0.0:1.0:0.0	.	359	O60307	MAST3_HUMAN	Q	359	ENSP00000262811:R359Q	ENSP00000262811:R359Q	R	+	2	0	MAST3	18100701	1.000000	0.71417	0.980000	0.43619	0.910000	0.53928	7.891000	0.87319	2.460000	0.83146	0.561000	0.74099	CGG	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466526.2		+	ENST00000262811.6	Missense_Mutation	SNP	19 : 18239701 - 18239701 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	456	76
MED20	9477	broad.mit.edu	37	6	41874828	41874828	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41874828C>T	ENST00000265350.4	-	4	701	c.621G>A	c.(619-621)ccG>ccA	p.P207P	MED20_ENST00000467535.1_5'UTR|MED20_ENST00000409312.1_3'UTR	NM_004275.3	NP_004266.2	Q9H944	MED20_HUMAN	mediator complex subunit 20	207				Missing (in Ref. 1; AAD16169).	regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	mediator complex	DNA-directed RNA polymerase activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)|pancreas(1)	5	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCCCAGCCACCGGCACCTGCT	0.572		NA											C	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	4e-04	SNP								NA				0													67	59	61			NA	NA	6		NA											NA				41874828		2203	4300	6503	SO:0001819	synonymous_variant			AF097725	CCDS4862.1	6p21.1	2008-02-05	2007-07-30	2007-07-30	ENSG00000124641	ENSG00000124641	9477	9477			16840	protein-coding gene	gene with protein product		612915	Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)	TRFP	NA	9933582, 15175163	Standard	NM_004275	NM_004275	NA	Approved	DKFZp586D2223, PRO0213	uc011dui.3	Q9H944	OTTHUMG00000014689	ENST00000265350.4:c.621G>A	6.37:g.41874828C>T		NA	O95821|Q5T8J4|Q9Y429	37	CCDS4862.1																																																																																			MED20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040539.1		-	ENST00000265350.4	Silent	SNP	6 : 41874828 - 41874828 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	59
ARR3	407	broad.mit.edu	37	X	69497300	69497300	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69497300C>A	ENST00000374495.3	+	9	628	c.530C>A	c.(529-531)cCt>cAt	p.P177H	ARR3_ENST00000307959.8_Missense_Mutation_p.P177H			P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	177					signal transduction|visual perception	cytoplasm|soluble fraction				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						GAGGCAGGCCCTGGCCCCTCA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	62	65			NA	NA	X		NA											NA				69497300		2203	4300	6503	SO:0001583	missense				CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500	407	407			710	protein-coding gene	gene with protein product	arrestin 4	301770			NA	8224247	Standard	NM_004312	NM_004312	NA	Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768	ENST00000374495.3:c.530C>A	X.37:g.69497300C>A	ENSP00000363619:p.Pro177His	NA	B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	37		.	.	.	.	.	.	.	.	.	.	C	21.4	4.148748	0.78001	.	.	ENSG00000120500	ENST00000374495;ENST00000374480;ENST00000307959	T;T	0.15718	2.4;2.79	4.37	4.37	0.52481	Immunoglobulin E-set (1);	0.164200	0.56097	D	0.000036	T	0.38321	0.1036	M	0.79258	2.445	0.51012	D	0.999904	D;D	0.67145	0.996;0.991	P;P	0.58172	0.712;0.834	T	0.42481	-0.9449	10	0.72032	D	0.01	.	15.4181	0.74987	0.0:1.0:0.0:0.0	.	177;177	P36575;P36575-2	ARRC_HUMAN;.	H	177	ENSP00000363619:P177H;ENSP00000311538:P177H	ENSP00000311538:P177H	P	+	2	0	ARR3	69414025	0.972000	0.33761	0.987000	0.45799	0.666000	0.39218	3.340000	0.52143	1.903000	0.55091	0.513000	0.50165	CCT	ARR3-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000057054.1		+	ENST00000374495.3	Missense_Mutation	SNP	X : 69497300 - 69497300 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	125	31
CEP192	55125	broad.mit.edu	37	18	13068922	13068922	+	Missense_Mutation	SNP	G	G	A	rs142781329		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13068922G>A	ENST00000506447.1	+	25	4974	c.4894G>A	c.(4894-4896)Gtt>Att	p.V1632I	CEP192_ENST00000430049.2_Missense_Mutation_p.V1157I|CEP192_ENST00000325971.8_Missense_Mutation_p.V1036I	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1227										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCCTACGCCCGTTCTTAGAAG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ILE/VAL	0,4406		0,0,2203	116	115	115		4894	2	0	18	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	no	missense	CEP192	NM_032142.3	29	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	1632/2538	13068922	1,13005	2203	4300	6503	SO:0001583	missense			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639	55125	55125		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	25515	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 62				NA	11230166, 14654843	Standard	NM_032142	NM_032142	NA	Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000506447.1:c.4894G>A	18.37:g.13068922G>A	ENSP00000427550:p.Val1632Ile	NA		37	CCDS32792.2	.	.	.	.	.	.	.	.	.	.	G	7.910	0.736223	0.15574	0.0	1.16E-4	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.58060	0.36;0.36;0.36	5.77	2.03	0.26663	.	0.287772	0.32852	N	0.005567	T	0.31231	0.0790	L	0.38175	1.15	0.24190	N	0.995551	P;P;B	0.44627	0.725;0.839;0.108	B;B;B	0.31946	0.073;0.138;0.029	T	0.23691	-1.0181	10	0.14252	T	0.57	-3.5773	9.756	0.40504	0.3947:0.0:0.6053:0.0	.	1157;1632;234	C9JT09;E9PF99;Q9HCK3	.;.;.	I	1632;1036;1036;1157	ENSP00000427550:V1632I;ENSP00000317156:V1036I;ENSP00000389190:V1157I	ENSP00000317156:V1036I	V	+	1	0	CEP192	13058922	0.936000	0.31750	0.027000	0.17364	0.003000	0.03518	1.456000	0.35201	0.472000	0.27344	-0.749000	0.03505	GTT	CEP192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361790.1		+	ENST00000506447.1	Missense_Mutation	SNP	18 : 13068922 - 13068922 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	667	133
BTNL9	153579	broad.mit.edu	37	5	180475061	180475061	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180475061G>A	ENST00000515271.1	+	2	302	c.37G>A	c.(37-39)Gtg>Atg	p.V13M	BTNL9_ENST00000376842.3_Missense_Mutation_p.V82M|BTNL9_ENST00000376841.2_Missense_Mutation_p.V82M|BTNL9_ENST00000327705.9_Missense_Mutation_p.V82M			Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	82						integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACCTTCAATGTGGTACACCT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	56	59			NA	NA	5		NA											NA				180475061		2203	4299	6502	SO:0001583	missense			AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810	153579	153579		Immunoglobulin superfamily / V-set domain containing, Butyrophilins	24176	protein-coding gene	gene with protein product					NA		Standard	NM_152547	NM_152547	NA	Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000515271.1:c.37G>A	5.37:g.180475061G>A	ENSP00000427345:p.Val13Met	NA	A6NL42|Q6P660|Q96DM5	37		.	.	.	.	.	.	.	.	.	.	G	11.80	1.745701	0.30955	.	.	ENSG00000165810	ENST00000376841;ENST00000327705;ENST00000376842;ENST00000376850;ENST00000515271	T;T;T;T	0.66460	-0.21;-0.21;-0.21;4.17	4.76	2.95	0.34219	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.32068	N	0.006623	T	0.77405	0.4125	M	0.84219	2.685	0.09310	N	1	D;P	0.71674	0.998;0.953	D;P	0.71870	0.975;0.873	T	0.66360	-0.5943	10	0.72032	D	0.01	.	3.9571	0.09395	0.1952:0.0:0.6167:0.1881	.	13;82	B7Z4Y8;Q6UXG8	.;BTNL9_HUMAN	M	82;82;82;82;13	ENSP00000366037:V82M;ENSP00000330200:V82M;ENSP00000366038:V82M;ENSP00000427345:V13M	ENSP00000330200:V82M	V	+	1	0	BTNL9	180407667	0.038000	0.19896	0.579000	0.28588	0.001000	0.01503	0.707000	0.25704	1.314000	0.45095	0.650000	0.86243	GTG	BTNL9-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000367224.1		+	ENST00000515271.1	Missense_Mutation	SNP	5 : 180475061 - 180475061 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	202	49
SEC61A2	55176	broad.mit.edu	37	10	12204260	12204260	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:12204260G>A	ENST00000379020.4	+	10	1079	c.1018G>A	c.(1018-1020)Gat>Aat	p.D340N	SEC61A2_ENST00000379033.3_Missense_Mutation_p.D384N|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000298428.9_Missense_Mutation_p.D406N|SEC61A2_ENST00000304267.8_Missense_Mutation_p.D406N			Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	406						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				GGGCCACCGAGATACCTCTAT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													242	225	231			NA	NA	10		NA											NA				12204260		2203	4300	6503	SO:0001583	missense			AF346603	CCDS7088.1, CCDS44358.1, CCDS44359.1	10p14	2004-01-06			ENSG00000065665	ENSG00000065665	55176	55176			17702	protein-coding gene	gene with protein product					NA		Standard	NM_018144	NM_018144	NA	Approved	FLJ10578	uc001ile.2	Q9H9S3	OTTHUMG00000017679	ENST00000379020.4:c.1018G>A	10.37:g.12204260G>A	ENSP00000368306:p.Asp340Asn	NA	A8K8D0	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.73|17.73	3.462134|3.462134	0.63513|0.63513	.|.	.|.	ENSG00000065665|ENSG00000065665	ENST00000379033;ENST00000298428;ENST00000304267;ENST00000379020;ENST00000426560|ENST00000419021	.|.	.|.	.|.	5.85|5.85	5.85|5.85	0.93711|0.93711	SecY subunit domain (2);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.79070|0.79070	0.4384|0.4384	M|M	0.78801|0.78801	2.425|2.425	0.58432|0.58432	D|D	0.999998|0.999998	B;B;B|.	0.24920|.	0.0;0.114;0.004|.	B;B;B|.	0.33620|.	0.036;0.167;0.074|.	T|T	0.80200|0.80200	-0.1481|-0.1481	9|6	0.51188|0.66056	T|D	0.08|0.02	-9.5732|-9.5732	19.1612|19.1612	0.93533|0.93533	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	384;406;406|.	F8W773;Q9H9S3-2;Q9H9S3|.	.;.;S61A2_HUMAN|.	N|K	384;406;406;340;154|157	.|.	ENSP00000298428:D406N|ENSP00000402124:R157K	D|R	+|+	1|2	0|0	SEC61A2|SEC61A2	12244266|12244266	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.288000|0.288000	0.27193|0.27193	9.869000|9.869000	0.99810|0.99810	2.768000|2.768000	0.95171|0.95171	0.655000|0.655000	0.94253|0.94253	GAT|AGA	SEC61A2-010	KNOWN	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000046796.2		+	ENST00000379020.4	Missense_Mutation	SNP	10 : 12204260 - 12204260 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	947	191
IQCB1	9657	broad.mit.edu	37	3	121489343	121489343	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121489343G>A	ENST00000310864.6	-	15	1860	c.1646C>T	c.(1645-1647)gCc>gTc	p.A549V	IQCB1_ENST00000349820.6_Missense_Mutation_p.A416V	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	549					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		GGCCTGCTTGGCCTTGGCTGC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	174	176			NA	NA	3		NA											NA				121489343		2203	4300	6503	SO:0001583	missense			D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226	9657	9657			28949	protein-coding gene	gene with protein product	nephrocystin-5	609237	IQ calmodulin-binding motif containing 1		NA	15723066	Standard	NM_014642	NM_001023571	NA	Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.1646C>T	3.37:g.121489343G>A	ENSP00000311505:p.Ala549Val	NA	Q5DKQ7|Q8NI79|Q9BS08	37	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675748	0.88445	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	T;T	0.80738	-1.41;-1.41	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.87920	0.6299	L	0.61218	1.895	0.53688	D	0.999975	D;D	0.89917	0.999;1.0	D;D	0.85130	0.991;0.997	D	0.88294	0.2945	10	0.87932	D	0	-5.2747	14.7509	0.69525	0.0:0.0:1.0:0.0	.	549;416	Q15051;Q15051-2	IQCB1_HUMAN;.	V	549;416	ENSP00000311505:A549V;ENSP00000323756:A416V	ENSP00000311505:A549V	A	-	2	0	IQCB1	122972033	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.165000	0.71891	2.857000	0.98124	0.650000	0.86243	GCC	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250573.1		-	ENST00000310864.6	Missense_Mutation	SNP	3 : 121489343 - 121489343 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1161	201
USP38	84640	broad.mit.edu	37	4	144141476	144141476	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:144141476C>T	ENST00000307017.4	+	10	3502	c.2996C>T	c.(2995-2997)gCc>gTc	p.A999V		NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	999					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					CGAGCCCGGGCCCTCCAAGCT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	67	66			NA	NA	4		NA											NA				144141476		2203	4300	6503	SO:0001583	missense			AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185	84640	84640		Ubiquitin-specific peptidases	20067	protein-coding gene	gene with protein product			ubiquitin specific protease 38		NA	12838346	Standard	NM_032557	NM_032557	NA	Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.2996C>T	4.37:g.144141476C>T	ENSP00000303434:p.Ala999Val	NA	B3KX93|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	37	CCDS3758.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922702	0.92319	.	.	ENSG00000170185	ENST00000307017	T	0.09911	2.93	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.32224	0.0822	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00115	-1.2039	10	0.37606	T	0.19	-10.3075	20.2043	0.98273	0.0:1.0:0.0:0.0	.	999	Q8NB14	UBP38_HUMAN	V	999	ENSP00000303434:A999V	ENSP00000303434:A999V	A	+	2	0	USP38	144360926	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.792000	0.85828	2.779000	0.95612	0.591000	0.81541	GCC	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364869.1		+	ENST00000307017.4	Missense_Mutation	SNP	4 : 144141476 - 144141476 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	426	73
SPERT	220082	broad.mit.edu	37	13	46287329	46287329	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46287329G>A	ENST00000378966.3	+	2	477	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	SPERT_ENST00000310521.1_Missense_Mutation_p.E57K			Q8NA61	SPERT_HUMAN	spermatid associated	57						cytoplasmic membrane-bounded vesicle		p.E57K(1)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GGGCACAGCCGAACCCTTCCC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											21	21	21			NA	NA	13		NA											NA				46287329		2201	4298	6499	SO:0001583	missense			AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015	220082	220082			30720	protein-coding gene	gene with protein product	spermatid flower-like structure protein, testis specific leucine zipper protein nurit, chibby homolog 2 (Drosophila)				NA	12204287, 20096028	Standard	NM_152719	NM_001286341	NA	Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000378966.3:c.61G>A	13.37:g.46287329G>A	ENSP00000368249:p.Glu21Lys	NA	A8K8I5|Q8NHV2	37		.	.	.	.	.	.	.	.	.	.	G	16.89	3.247467	0.59103	.	.	ENSG00000174015	ENST00000310521;ENST00000533564;ENST00000378966	T;T	0.57752	0.39;0.38	5.1	5.1	0.69264	.	0.000000	0.48286	D	0.000181	T	0.63651	0.2529	L	0.40543	1.245	0.39134	D	0.961919	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.67601	-0.5629	10	0.87932	D	0	.	13.8953	0.63768	0.0:0.0:1.0:0.0	.	21;57	Q8NA61-2;Q8NA61	.;SPERT_HUMAN	K	57;30;21	ENSP00000309189:E57K;ENSP00000368249:E21K	ENSP00000309189:E57K	E	+	1	0	SPERT	45185330	0.994000	0.37717	0.998000	0.56505	0.231000	0.25187	2.592000	0.46171	2.653000	0.90120	0.650000	0.86243	GAA	SPERT-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000044787.2		+	ENST00000378966.3	Missense_Mutation	SNP	13 : 46287329 - 46287329 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	230	48
TFAP2B	7021	broad.mit.edu	37	6	50786656	50786656	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:50786656G>A	ENST00000393655.3	+	1	221	c.52G>A	c.(52-54)Gag>Aag	p.E18K	TFAP2B_ENST00000263046.4_Missense_Mutation_p.E18K	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	18					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GAAGCTTGTGGAGAATGTCAA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(116;1373 2332 5475 10752)							NA				0													113	94	100			NA	NA	6		NA											NA				50786656		2203	4300	6503	SO:0001583	missense			X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196	7021	7021			11743	protein-coding gene	gene with protein product		601601	transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)		NA	7555706, 8661133	Standard	NM_003221	NM_003221	NA	Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.52G>A	6.37:g.50786656G>A	ENSP00000377265:p.Glu18Lys	NA	Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	37	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198890	0.79015	.	.	ENSG00000008196	ENST00000393655;ENST00000344788;ENST00000263046	T;T;T	0.76839	-1.05;-1.05;-1.05	4.21	4.21	0.49690	.	0.392398	0.26700	N	0.022955	T	0.59074	0.2167	L	0.36672	1.1	0.80722	D	1	B	0.31893	0.345	B	0.26864	0.074	T	0.68318	-0.5440	10	0.72032	D	0.01	-3.8225	16.8977	0.86105	0.0:0.0:1.0:0.0	.	18	Q92481	AP2B_HUMAN	K	18;7;18	ENSP00000377265:E18K;ENSP00000342252:E7K;ENSP00000263046:E18K	ENSP00000263046:E18K	E	+	1	0	TFAP2B	50894615	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.094000	0.94168	2.036000	0.60181	0.561000	0.74099	GAG	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040886.3		+	ENST00000393655.3	Missense_Mutation	SNP	6 : 50786656 - 50786656 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	264	47
ABCA7	10347	broad.mit.edu	37	19	1046243	1046243	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1046243G>A	ENST00000263094.6	+	13	1691	c.1460G>A	c.(1459-1461)gGc>gAc	p.G487D	ABCA7_ENST00000433129.1_Missense_Mutation_p.G487D|ABCA7_ENST00000435683.2_Missense_Mutation_p.G349D|ABCA7_ENST00000533574.1_3'UTR	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	487					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGACCCTGGCCCAGCCGCG	0.657		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	19		NA											NA				1046243		2203	4297	6500	SO:0001583	missense			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687	10347	10347		ATP binding cassette transporters / subfamily A	37	protein-coding gene	gene with protein product		605414			NA		Standard	NM_019112	NM_019112	NA	Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1460G>A	19.37:g.1046243G>A	ENSP00000263094:p.Gly487Asp	NA	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	37	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	g	16.84	3.234844	0.58886	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.97959	-4.63;-4.63	4.95	4.95	0.65309	.	.	.	.	.	D	0.98280	0.9430	M	0.62154	1.92	0.45194	D	0.998207	D;D	0.89917	1.0;0.994	D;P	0.97110	1.0;0.831	D	0.99556	1.0967	9	0.87932	D	0	.	15.6578	0.77155	0.0:0.0:1.0:0.0	.	349;487	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	D	487	ENSP00000263094:G487D;ENSP00000414062:G487D	ENSP00000263094:G487D	G	+	2	0	ABCA7	997243	1.000000	0.71417	0.026000	0.17262	0.020000	0.10135	9.650000	0.98490	2.294000	0.77228	0.556000	0.70494	GGC	ABCA7-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394993.1		+	ENST00000263094.6	Missense_Mutation	SNP	19 : 1046243 - 1046243 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1321	55
DOCK7	85440	broad.mit.edu	37	1	62953075	62953075	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:62953075G>T	ENST00000340370.5	-	42	5426	c.5409C>A	c.(5407-5409)ggC>ggA	p.G1803G	DOCK7_ENST00000251157.5_Intron	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1834	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CTACCTCCCAGCCAGTACTCT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	73	71			NA	NA	1		NA											NA				62953075		2203	4300	6503	SO:0001819	synonymous_variant				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641	85440	85440			19190	protein-coding gene	gene with protein product		615730			NA	12432077	Standard	NM_033407	NM_033407	NA	Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.5409C>A	1.37:g.62953075G>T		NA	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q9C092	37	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	G	7.712	0.695324	0.15106	.	.	ENSG00000116641	ENST00000454575	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	T	0.76219	0.3957	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74396	-0.3679	4	.	.	.	.	19.5557	0.95347	0.0:0.0:1.0:0.0	.	.	.	.	M	997	.	.	L	-	1	2	DOCK7	62725663	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.999000	0.88496	2.628000	0.89032	0.586000	0.80456	CTG	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000036806.1		-	ENST00000340370.5	Silent	SNP	1 : 62953075 - 62953075 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	345	20
MTF1	4520	broad.mit.edu	37	1	38305726	38305726	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38305726G>A	ENST00000373036.4	-	3	653	c.513C>T	c.(511-513)gtC>gtT	p.V171V		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	171						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCTGATTACAGACAAAGGTGT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	140	148			NA	NA	1		NA											NA				38305726		2203	4300	6503	SO:0001819	synonymous_variant			BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786	4520	4520			7428	protein-coding gene	gene with protein product		600172			NA	8065932	Standard	NM_005955	NM_005955	NA	Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.513C>T	1.37:g.38305726G>A		NA	B2RAK6|Q96CB1	37	CCDS30676.1																																																																																			MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000012984.2		-	ENST00000373036.4	Silent	SNP	1 : 38305726 - 38305726 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	407	75
CBLN4	140689	broad.mit.edu	37	20	54575785	54575785	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54575785A>G	ENST00000064571.2	-	2	1709		c.e2+1			NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	NA						cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			CAAAACACACACCTGGATAGT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	150	148			NA	NA	20		NA											NA				54575785		2203	4300	6503	SO:0001630	splice_region_variant			AY358527	CCDS13448.1	20q13	2004-08-19	2004-08-19	2004-08-19	ENSG00000054803	ENSG00000054803	140689	140689			16231	protein-coding gene	gene with protein product		615029	cerebellin precursor-like 1	CBLNL1	NA		Standard	NM_080617	NM_080617	NA	Approved	dJ885A10.1	uc002xxa.4	Q9NTU7	OTTHUMG00000032782	ENST00000064571.2:c.408+1T>C	20.37:g.54575785A>G		NA		37	CCDS13448.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.006394	0.54361	.	.	ENSG00000054803	ENST00000064571	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5198	0.75857	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CBLN4	54009192	1.000000	0.71417	0.992000	0.48379	0.536000	0.34869	8.896000	0.92521	2.077000	0.62373	0.374000	0.22700	.	CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079783.2	Intron	-	ENST00000064571.2	Splice_Site	SNP	20 : 54575785 - 54575785 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	698	119
KANSL3	55683	broad.mit.edu	37	2	97276577	97276577	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97276577A>C	ENST00000431828.1	-	11	1281	c.1205T>G	c.(1204-1206)tTt>tGt	p.F402C	KANSL3_ENST00000599854.1_Missense_Mutation_p.F315C|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000440133.1_Missense_Mutation_p.F196C|KANSL3_ENST00000441706.2_Missense_Mutation_p.F315C			Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	402											NA						ACCAATGACAAAGAGGACTGG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	154	156			NA	NA	2		NA											NA				97276577		1901	4127	6028	SO:0001583	missense			BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982	55683	55683			25473	protein-coding gene	gene with protein product			KIAA1310	KIAA1310	NA		Standard	NM_017991	NM_001115016	NA	Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.1205T>G	2.37:g.97276577A>C	ENSP00000396749:p.Phe402Cys	NA	A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	37	CCDS46361.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.752617	0.89753	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000441706;ENST00000440133;ENST00000444759;ENST00000452268	T;T;T	0.47177	0.85;0.85;0.85	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.65512	0.2698	L	0.58510	1.815	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.999;0.983;0.998;0.98	T	0.67937	-0.5541	10	0.87932	D	0	.	14.5244	0.67878	1.0:0.0:0.0:0.0	.	196;402;315;290	B4E1W4;Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;.;.;.	C	315;290;402;315;196;196;315	ENSP00000396749:F402C;ENSP00000400678:F315C;ENSP00000406207:F196C	ENSP00000346144:F315C	F	-	2	0	KIAA1310	96640304	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.136000	0.94489	2.313000	0.78055	0.455000	0.32223	TTT	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339040.2		-	ENST00000431828.1	Missense_Mutation	SNP	2 : 97276577 - 97276577 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	934	232
SPTA1	6708	broad.mit.edu	37	1	158636273	158636273	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158636273C>A	ENST00000368147.4	-	16	2233	c.2053G>T	c.(2053-2055)Gag>Tag	p.E685*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	NA					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGGTTGGCCTCATGCAACTGG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	40	40			NA	NA	1		NA											NA				158636273		1944	4138	6082	SO:0001587	stop_gained			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554	6708	6708		EF-hand domain containing	11272	protein-coding gene	gene with protein product	elliptocytosis 2	182860	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		NA		Standard	NM_003126	NM_003126	NA	Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2053G>T	1.37:g.158636273C>A	ENSP00000357129:p.Glu685*	NA	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	36	5.869622	0.97049	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	4.71	2.85	0.33270	.	0.251914	0.20648	N	0.088271	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	9.753	0.40487	0.0:0.8306:0.0:0.1694	.	.	.	.	X	685	.	ENSP00000357129:E685X	E	-	1	0	SPTA1	156902897	1.000000	0.71417	0.110000	0.21437	0.005000	0.04900	4.944000	0.63561	0.601000	0.29879	-0.142000	0.14014	GAG	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051851.3		-	ENST00000368147.4	Nonsense_Mutation	SNP	1 : 158636273 - 158636273 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	209	30
DENND5A	23258	broad.mit.edu	37	11	9172287	9172287	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9172287C>A	ENST00000530044.1	-	14	2563	c.2546G>T	c.(2545-2547)aGg>aTg	p.R849M	DENND5A_ENST00000527700.1_Missense_Mutation_p.R192M|DENND5A_ENST00000328194.3_Missense_Mutation_p.R849M			Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	849	RUN 1.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATCAGACTTCCTACGTTCTGA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	126	132			NA	NA	11		NA											NA				9172287		2201	4296	6497	SO:0001583	missense			AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014	23258	23258		DENN/MADD domain containing	19344	protein-coding gene	gene with protein product			RAB6 interacting protein 1	RAB6IP1	NA	10470851	Standard	NM_015213	NM_015213	NA	Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000530044.1:c.2546G>T	11.37:g.9172287C>A	ENSP00000435866:p.Arg849Met	NA	Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	37	CCDS58119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.494366|9.494366	0.99187|0.99187	.|.	.|.	ENSG00000184014|ENSG00000184014	ENST00000328194;ENST00000530044;ENST00000527700|ENST00000524446	T;T;T|.	0.32023|.	1.47;1.47;1.47|.	5.53|5.53	5.53|5.53	0.82687|0.82687	RUN (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.77253|.	0.4103|.	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.994;0.998|.	D;D|.	0.70227|.	0.928;0.968|.	T|.	0.76206|.	-0.3044|.	10|.	0.72032|.	D|.	0.01|.	.|.	19.4553|19.4553	0.94884|0.94884	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	849;849|.	E9PS91;Q6IQ26|.	.;DEN5A_HUMAN|.	M|Y	849;849;192|19	ENSP00000328524:R849M;ENSP00000435866:R849M;ENSP00000432549:R192M|.	ENSP00000328524:R849M|.	R|X	-|-	2|3	0|2	DENND5A|DENND5A	9128863|9128863	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.794000|7.794000	0.85869|0.85869	2.601000|2.601000	0.87937|0.87937	0.655000|0.655000	0.94253|0.94253	AGG|TAG	DENND5A-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385912.1		-	ENST00000530044.1	Missense_Mutation	SNP	11 : 9172287 - 9172287 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	279	45
FOCAD	54914	broad.mit.edu	37	9	20781925	20781925	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:20781925A>G	ENST00000380249.1	+	12	1558	c.1194A>G	c.(1192-1194)caA>caG	p.Q398Q	FOCAD_ENST00000338382.6_Silent_p.Q398Q	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	398						integral to membrane	binding				NA						ATGACCACCAAAAGGTAATGA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	90	93			NA	NA	9		NA											NA				20781925		2203	4300	6503	SO:0001819	synonymous_variant			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352	54914	54914			23377	protein-coding gene	gene with protein product		614606	KIAA1797	KIAA1797	NA	22427331	Standard	NM_017794	XM_006716794	NA	Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.1194A>G	9.37:g.20781925A>G		NA	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	37	CCDS34993.1																																																																																			FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000143442.1		+	ENST00000380249.1	Silent	SNP	9 : 20781925 - 20781925 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	299	61
SCFD2	152579	broad.mit.edu	37	4	54232059	54232059	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54232059A>G	ENST00000401642.3	-	1	183	c.50T>C	c.(49-51)gTg>gCg	p.V17A	SCFD2_ENST00000388940.4_Missense_Mutation_p.V17A	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	17					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TTTGGCCAGCACCTGCTCCCA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	52	50			NA	NA	4		NA											NA				54232059		2203	4300	6503	SO:0001583	missense			AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178	152579	152579			30676	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152540	NM_152540	NA	Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.50T>C	4.37:g.54232059A>G	ENSP00000384182:p.Val17Ala	NA	Q8N5F3|Q8N8H0|Q96ED3	37	CCDS33984.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.432887	0.83776	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	T;T	0.59364	0.29;0.27	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.70046	0.3179	L	0.51422	1.61	0.58432	D	0.999996	D;D	0.89917	1.0;0.997	D;D	0.83275	0.996;0.978	T	0.72494	-0.4276	10	0.72032	D	0.01	.	13.3568	0.60633	1.0:0.0:0.0:0.0	.	17;17	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	A	17	ENSP00000384182:V17A;ENSP00000373592:V17A	ENSP00000373592:V17A	V	-	2	0	SCFD2	53926816	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.218000	0.72224	2.317000	0.78254	0.459000	0.35465	GTG	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361311.3		-	ENST00000401642.3	Missense_Mutation	SNP	4 : 54232059 - 54232059 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	295	61
LMCD1	29995	broad.mit.edu	37	3	8590439	8590439	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:8590439C>T	ENST00000157600.3	+	4	805	c.573C>T	c.(571-573)agC>agT	p.S191S	LMCD1_ENST00000397386.3_Silent_p.S79S|LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000454244.1_Silent_p.S118S|LMCD1_ENST00000535732.1_Silent_p.S191S	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	191	PET.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		AATATAAGAGCGAGGCCCTCG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	100	98			NA	NA	3		NA											NA				8590439		2203	4300	6503	SO:0001819	synonymous_variant			AF169284	CCDS33688.1, CCDS63533.1, CCDS63534.1	3p26-p24	2008-07-18			ENSG00000071282	ENSG00000071282	29995	29995			6633	protein-coding gene	gene with protein product	dyxin	604859			NA	10662546	Standard	NM_014583	NM_001278233	NA	Approved		uc003bqq.4	Q9NZU5	OTTHUMG00000154971	ENST00000157600.3:c.573C>T	3.37:g.8590439C>T		NA		37	CCDS33688.1																																																																																			LMCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337854.1		+	ENST00000157600.3	Silent	SNP	3 : 8590439 - 8590439 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	805	141
GUCA1A	2978	broad.mit.edu	37	6	42146144	42146144	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42146144G>A	ENST00000394237.1	+	4	1304	c.328G>A	c.(328-330)Gat>Aat	p.D110N	GUCA1A_ENST00000541991.1_Missense_Mutation_p.D110N|GUCA1A_ENST00000053469.4_Missense_Mutation_p.D110N|GUCA1A_ENST00000372958.1_Missense_Mutation_p.D110N			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	110	EF-hand 3.				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CATTGACCGCGATGAGCTGCT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	98	100			NA	NA	6		NA											NA				42146144		2203	4300	6503	SO:0001583	missense				CCDS4864.1	6p21.1	2013-06-06			ENSG00000048545	ENSG00000048545	2978	2978		EF-hand domain containing	4678	protein-coding gene	gene with protein product	cone dystrophy 3	600364	chromosome 6 open reading frame 131	GUCA, GUCA1, C6orf131	NA	9425234	Standard		NM_000409	NA	Approved	GCAP, GCAP1, COD3, dJ139D8.6, CORD14	uc003orx.3	P43080	OTTHUMG00000014696	ENST00000394237.1:c.328G>A	6.37:g.42146144G>A	ENSP00000377784:p.Asp110Asn	NA	B3KWT4|Q7Z6T1|Q9NU14	37	CCDS4864.1	.	.	.	.	.	.	.	.	.	.	g	1.312	-0.601822	0.03744	.	.	ENSG00000048545	ENST00000541991;ENST00000372965;ENST00000053469;ENST00000394237;ENST00000372958	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	4.57	3.7	0.42460	EF-hand-like domain (1);	0.422650	0.26840	N	0.022228	T	0.74650	0.3744	L	0.56124	1.755	0.09310	N	1	P	0.38048	0.616	B	0.30716	0.119	T	0.65747	-0.6093	9	.	.	.	.	12.8576	0.57894	0.0:0.1656:0.8344:0.0	.	110	P43080	GUC1A_HUMAN	N	110;106;110;110;110	ENSP00000437476:D110N;ENSP00000053469:D110N;ENSP00000377784:D110N;ENSP00000362049:D110N	.	D	+	1	0	GUCA1A	42254122	0.045000	0.20229	0.225000	0.23894	0.005000	0.04900	1.711000	0.37930	1.055000	0.40461	-0.121000	0.15023	GAT	GUCA1A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316582.1		+	ENST00000394237.1	Missense_Mutation	SNP	6 : 42146144 - 42146144 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	791	142
MRPL21	219927	broad.mit.edu	37	11	68664142	68664142	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68664142G>A	ENST00000362034.2	-	4	246	c.237C>T	c.(235-237)gtC>gtT	p.V79V	MRPL21_ENST00000450904.2_5'UTR|MRPL21_ENST00000567045.1_5'UTR	NM_181514.1|NM_181515.1	NP_852615.1|NP_852616.1	Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21	79					translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCTTCTTCACGACCTCTGCAG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	103	108			NA	NA	11		NA											NA				68664142		2200	4294	6494	SO:0001819	synonymous_variant			AK096756	CCDS8186.1, CCDS44662.1	11q13.3	2012-09-13			ENSG00000197345	ENSG00000197345	219927	219927		Mitochondrial ribosomal proteins / large subunits	14479	protein-coding gene	gene with protein product		611834			NA	11551941	Standard	NM_181512	NM_181514	NA	Approved		uc001ooi.3	Q7Z2W9	OTTHUMG00000167893	ENST00000362034.2:c.237C>T	11.37:g.68664142G>A		NA	A6NKU0	37	CCDS8186.1																																																																																			MRPL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396856.1		-	ENST00000362034.2	Silent	SNP	11 : 68664142 - 68664142 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	672	115
SYNE2	23224	broad.mit.edu	37	14	64625366	64625366	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64625366G>A	ENST00000554584.1	+	84	15618	c.15567G>A	c.(15565-15567)atG>atA	p.M5189I	SYNE2_ENST00000344113.4_Missense_Mutation_p.M5272I|SYNE2_ENST00000555002.1_Missense_Mutation_p.M1906I|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.M1657I|SYNE2_ENST00000358025.3_Missense_Mutation_p.M5272I|SYNE2_ENST00000394768.2_Missense_Mutation_p.M1657I			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5169					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAACCTCCATGCAGTCAGTTT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	103	107			NA	NA	14		NA											NA				64625366		2203	4300	6503	SO:0001583	missense			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654	23224	23224			17084	protein-coding gene	gene with protein product	nuclear envelope spectrin repeat-2, nucleus and actin connecting element	608442			NA	10231032, 10878022	Standard	NM_182914	NM_182910	NA	Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000554584.1:c.15567G>A	14.37:g.64625366G>A	ENSP00000452570:p.Met5189Ile	NA	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	37		.	.	.	.	.	.	.	.	.	.	G	14.07	2.424303	0.43020	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41	5.77	2.98	0.34508	.	0.191659	0.37304	N	0.002151	T	0.24967	0.0606	M	0.62723	1.935	0.80722	D	1	B;B;B;B;B	0.29988	0.171;0.004;0.002;0.066;0.264	B;B;B;B;B	0.26094	0.038;0.011;0.004;0.025;0.066	T	0.04216	-1.0968	10	0.11182	T	0.66	.	8.582	0.33634	0.3021:0.0:0.6979:0.0	.	1657;5195;5189;5272;5272	Q8WXH0-7;F8WAA3;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	I	5272;1657;5272;5189;5195;1906;1657	ENSP00000350719:M5272I;ENSP00000349969:M1657I;ENSP00000341781:M5272I;ENSP00000452570:M5189I;ENSP00000450831:M1906I;ENSP00000378249:M1657I	ENSP00000261678:M5195I	M	+	3	0	SYNE2	63695119	1.000000	0.71417	0.960000	0.40013	0.805000	0.45488	1.721000	0.38032	0.459000	0.27016	0.650000	0.86243	ATG	SYNE2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000411905.1		+	ENST00000554584.1	Missense_Mutation	SNP	14 : 64625366 - 64625366 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	55
DST	667	broad.mit.edu	37	6	56516029	56516029	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56516029C>A	ENST00000361203.3	-	7	602	c.595G>T	c.(595-597)Gat>Tat	p.D199Y	DST_ENST00000421834.2_Missense_Mutation_p.D199Y|DST_ENST00000370769.4_Missense_Mutation_p.D199Y|DST_ENST00000370754.5_Missense_Mutation_p.D377Y|DST_ENST00000312431.6_Missense_Mutation_p.D199Y|DST_ENST00000370788.2_Missense_Mutation_p.D199Y			Q03001	DYST_HUMAN	dystonin	199	Actin-binding.|CH 2.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTATTCATATCTATCAGGTCC	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	29	30			NA	NA	6		NA											NA				56516029		1831	4075	5906	SO:0001583	missense			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914	667	667		EF-hand domain containing	1090	protein-coding gene	gene with protein product		113810	bullous pemphigoid antigen 1, 230/240kDa	BPAG1	NA	2461961, 2276744	Standard	NM_001723	NM_001144770	NA	Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.595G>T	6.37:g.56516029C>A	ENSP00000354508:p.Asp199Tyr	NA	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	37		.	.	.	.	.	.	.	.	.	.	C	18.26	3.584457	0.65992	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000421834;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000520645;ENST00000449297	D;D;D;D;D;D;D;D	0.96651	-4.08;-4.08;-4.08;-4.08;-4.08;-4.08;-4.08;-4.08	5.38	5.38	0.77491	Calponin homology domain (5);	0.000000	0.56097	D	0.000021	D	0.98204	0.9406	.	.	.	0.39033	D	0.959982	D;D;D;D;D;D	0.89917	0.976;1.0;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.97110	0.756;1.0;0.999;0.999;0.999;1.0	D	0.98713	1.0705	8	0.87932	D	0	.	19.3169	0.94218	0.0:1.0:0.0:0.0	.	228;199;199;377;315;199	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q03001	.;.;.;.;.;DYST_HUMAN	Y	377;199;199;199;199;199;239;377	ENSP00000359790:D377Y;ENSP00000359805:D199Y;ENSP00000400883:D199Y;ENSP00000307959:D199Y;ENSP00000359824:D199Y;ENSP00000354508:D199Y;ENSP00000431030:D239Y;ENSP00000393082:D377Y	ENSP00000307959:D199Y	D	-	1	0	DST	56623988	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.647000	0.83462	2.786000	0.95864	0.563000	0.77884	GAT	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000041021.3		-	ENST00000361203.3	Missense_Mutation	SNP	6 : 56516029 - 56516029 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	74	13
FAM83D	81610	broad.mit.edu	37	20	37580769	37580769	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:37580769G>A	ENST00000217429.4	+	4	1495	c.1454G>A	c.(1453-1455)gGa>gAa	p.G485E		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	455	Ser-rich.				cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				TTTCCTCGAGGAACTCAATCT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	113	114			NA	NA	20		NA											NA				37580769		2015	4177	6192	SO:0001583	missense			AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447	81610	81610			16122	protein-coding gene	gene with protein product			chromosome 20 open reading frame 129	C20orf129	NA	23205133	Standard		NM_030919	NA	Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.1454G>A	20.37:g.37580769G>A	ENSP00000217429:p.Gly485Glu	NA	B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	37	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451330	0.43531	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.11821	2.74	5.49	5.49	0.81192	.	0.000000	0.56097	D	0.000027	T	0.28566	0.0707	M	0.72118	2.19	0.33666	D	0.610281	D	0.63880	0.993	P	0.58520	0.84	T	0.35968	-0.9767	10	0.42905	T	0.14	.	9.6484	0.39881	0.0762:0.1437:0.7801:0.0	.	455	Q9H4H8	FA83D_HUMAN	E	485;439	ENSP00000217429:G485E	ENSP00000217429:G485E	G	+	2	0	FAM83D	37014183	0.955000	0.32602	0.984000	0.44739	0.126000	0.20510	1.720000	0.38022	2.733000	0.93635	0.655000	0.94253	GGA	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079211.1		+	ENST00000217429.4	Missense_Mutation	SNP	20 : 37580769 - 37580769 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	577	94
PSMC4	5704	broad.mit.edu	37	19	40485876	40485876	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40485876G>A	ENST00000157812.2	+	7	1024	c.826G>A	c.(826-828)Gat>Aat	p.D276N	PSMC4_ENST00000455878.2_Missense_Mutation_p.D245N	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	276					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CAAGAGATTCGATGCTCAGAC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(105;1478 1543 4034 6132 38638)							NA				0													70	67	68			NA	NA	19		NA											NA				40485876		2203	4300	6503	SO:0001583	missense			U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275	5704	5704		Proteasome (prosome, macropain) subunits, ATPases / AAA-type	9551	protein-coding gene	gene with protein product	protease 26S subunit 6, Tat-binding protein 7, MB67 interacting protein	602707		MIP224	NA	9473509, 8603043	Standard	NM_006503	NM_006503	NA	Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.826G>A	19.37:g.40485876G>A	ENSP00000157812:p.Asp276Asn	NA	Q96FV5|Q9UBM3|Q9UEX3	37	CCDS12547.1	.	.	.	.	.	.	.	.	.	.	g	17.19	3.327241	0.60743	.	.	ENSG00000013275	ENST00000157812;ENST00000455878	D;D	0.94966	-3.57;-3.57	5.92	4.89	0.63831	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.95698	0.8601	L	0.46567	1.45	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.91635	0.723;0.999	D	0.95885	0.8902	10	0.72032	D	0.01	-5.2356	12.746	0.57281	0.079:0.0:0.921:0.0	.	245;276	P43686-2;P43686	.;PRS6B_HUMAN	N	276;245	ENSP00000157812:D276N;ENSP00000413869:D245N	ENSP00000157812:D276N	D	+	1	0	PSMC4	45177716	1.000000	0.71417	0.711000	0.30485	0.045000	0.14185	9.588000	0.98232	1.517000	0.48917	0.561000	0.74099	GAT	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462485.1		+	ENST00000157812.2	Missense_Mutation	SNP	19 : 40485876 - 40485876 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	182	43
ZNF365	22891	broad.mit.edu	37	10	64414614	64414614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64414614C>T	ENST00000395251.1	+	3	384	c.50C>T	c.(49-51)aCa>aTa	p.T17I	ZNF365_ENST00000395249.1_Intron|ZNF365_ENST00000410046.3_Intron	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	17										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					tgctggaatacagagaggaac	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	147	146			NA	NA	10		NA											NA				64414614		2203	4300	6503	SO:0001583	missense			AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311	22891	22891		Zinc fingers, C2H2-type	18194	protein-coding gene	gene with protein product	Talanin	607818			NA	10048485, 12740763	Standard	NM_014951	NM_199450	NA	Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395251.1:c.50C>T	10.37:g.64414614C>T	ENSP00000378672:p.Thr17Ile	NA		37	CCDS7265.1	.	.	.	.	.	.	.	.	.	.	C	1.538	-0.542565	0.04053	.	.	ENSG00000138311	ENST00000395251	T	0.52983	0.64	1.95	-0.14	0.13456	.	.	.	.	.	T	0.23806	0.0576	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.15484	0.013	T	0.19614	-1.0300	9	0.87932	D	0	.	3.9428	0.09334	0.0:0.5105:0.0:0.4895	.	17	Q70YC4	TALAN_HUMAN	I	17	ENSP00000378672:T17I	ENSP00000345300:T17I	T	+	2	0	ZNF365	64084620	0.004000	0.15560	0.001000	0.08648	0.007000	0.05969	0.960000	0.29253	-0.031000	0.13781	0.462000	0.41574	ACA	ZNF365-006	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277036.1		+	ENST00000395251.1	Missense_Mutation	SNP	10 : 64414614 - 64414614 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	772	138
RBM27	54439	broad.mit.edu	37	5	145651170	145651170	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145651170G>A	ENST00000265271.5	+	19	3087	c.2921G>A	c.(2920-2922)cGt>cAt	p.R974H	RBM27_ENST00000506502.1_Missense_Mutation_p.R919H	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	974					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGGACCATCGTCCCAAAGCA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	143	144			NA	NA	5		NA											NA				145651170		1568	3582	5150	SO:0001583	missense			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009	54439	54439		Zinc fingers, CCCH-type domain containing, RNA binding motif (RRM) containing	29243	protein-coding gene	gene with protein product	acidic rich RS domain containing 1				NA	10718198, 15741184	Standard	XM_291128	NM_018989	NA	Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2921G>A	5.37:g.145651170G>A	ENSP00000265271:p.Arg974His	NA	Q8IYW9	37	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	G	33	5.228901	0.95173	.	.	ENSG00000091009	ENST00000265271	D	0.83075	-1.68	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000001	D	0.92034	0.7476	M	0.84683	2.71	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.93196	0.6587	10	0.87932	D	0	-6.646	18.7687	0.91882	0.0:0.0:1.0:0.0	.	974	Q9P2N5	RBM27_HUMAN	H	974	ENSP00000265271:R974H	ENSP00000265271:R974H	R	+	2	0	RBM27	145631363	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.005000	0.93587	2.517000	0.84864	0.650000	0.86243	CGT	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373420.1		+	ENST00000265271.5	Missense_Mutation	SNP	5 : 145651170 - 145651170 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	406	65
ATG14	22863	broad.mit.edu	37	14	55836433	55836433	+	Silent	SNP	C	C	T	rs147545593		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55836433C>T	ENST00000247178.5	-	10	1418	c.1383G>A	c.(1381-1383)gcG>gcA	p.A461A		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	461					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						TGGGTGGGGACGCCTGGGTGC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	106	96	99		1383	-1.7	0.1	14	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ATG14	NM_014924.4		0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077		461/493	55836433	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AB020638	CCDS32087.1	14q22.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000126775	ENSG00000126775	22863	22863			19962	protein-coding gene	gene with protein product	Barkor, beclin 1-associated autophagy-related key regulator	613515	KIAA0831, ATG14 autophagy related 14 homolog (S. cerevisiae)	KIAA0831	NA	18843052	Standard	NM_014924	NM_014924	NA	Approved	ATG14L	uc001xbx.2	Q6ZNE5	OTTHUMG00000172129	ENST00000247178.5:c.1383G>A	14.37:g.55836433C>T		NA	A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	37	CCDS32087.1																																																																																			ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416992.1		-	ENST00000247178.5	Silent	SNP	14 : 55836433 - 55836433 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	431	78
DHX30	22907	broad.mit.edu	37	3	47868868	47868868	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47868868G>T	ENST00000348968.4	+	6	492	c.72G>T	c.(70-72)caG>caT	p.Q24H	DHX30_ENST00000457607.1_Missense_Mutation_p.Q80H|DHX30_ENST00000445061.1_Missense_Mutation_p.Q52H|DHX30_ENST00000446256.2_Missense_Mutation_p.Q13H			Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	52						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGTTCCCACAGCCCAAAAATC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	79	79			NA	NA	3		NA											NA				47868868		2203	4300	6503	SO:0001583	missense			AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153	22907	22907		DEAH-boxes	16716	protein-coding gene	gene with protein product			DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30, DEAH (Asp-Glu-Ala-His) box polypeptide 30	DDX30	NA	10048485, 18022663	Standard	NM_138615	NM_138615	NA	Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000348968.4:c.72G>T	3.37:g.47868868G>T	ENSP00000343442:p.Gln24His	NA	A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	37		.	.	.	.	.	.	.	.	.	.	G	13.13	2.144990	0.37825	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03212	4.03;4.02;4.03;4.01	5.42	3.64	0.41730	.	0.210963	0.40818	N	0.001014	T	0.04003	0.0112	L	0.36672	1.1	0.40277	D	0.978354	B;P;P	0.40032	0.42;0.555;0.699	B;B;B	0.39935	0.119;0.237;0.314	T	0.54642	-0.8263	10	0.37606	T	0.19	.	9.2676	0.37650	0.1633:0.0:0.8367:0.0	.	52;13;80	Q7L2E3;Q7L2E3-3;Q7L2E3-2	DHX30_HUMAN;.;.	H	13;52;24;80	ENSP00000392601:Q13H;ENSP00000405620:Q52H;ENSP00000343442:Q24H;ENSP00000394682:Q80H	ENSP00000343442:Q24H	Q	+	3	2	DHX30	47843872	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.307000	0.51888	0.677000	0.31305	-0.136000	0.14681	CAG	DHX30-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000346137.1		+	ENST00000348968.4	Missense_Mutation	SNP	3 : 47868868 - 47868868 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	412	37
ZBTB46	140685	broad.mit.edu	37	20	62407098	62407098	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62407098G>A	ENST00000245663.4	-	3	1305	c.1155C>T	c.(1153-1155)gcC>gcT	p.A385A	ZBTB46_ENST00000302995.2_Silent_p.A385A|ZBTB46_ENST00000395104.1_Silent_p.A385A	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.A385A(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CCAGCACGTCGGCCTTCAGCG	0.677		NA									OREG0026130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	lung(1)											52	55	54			NA	NA	20		NA											NA				62407098		2203	4300	6503	SO:0001819	synonymous_variant			AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584	140685	140685		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	16094	protein-coding gene	gene with protein product	BTB-ZF protein expressed in effector lymphocytes	614639	BTB (POZ) domain containing 4	ZNF340, BTBD4	NA		Standard	NM_025224	NM_025224	NA	Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.1155C>T	20.37:g.62407098G>A		1061	E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	37	CCDS13538.1																																																																																			ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080232.2		-	ENST00000245663.4	Silent	SNP	20 : 62407098 - 62407098 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	532	106
POLE	5426	broad.mit.edu	37	12	133201511	133201511	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133201511C>T	ENST00000320574.5	-	48	6770	c.6727G>A	c.(6727-6729)Gcc>Acc	p.A2243T	POLE_ENST00000535270.1_Missense_Mutation_p.A2216T	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2243					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	p.A2243S(2)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		ATGGTGAGGGCGAAGTCTCCC	0.657		NA						DNA polymerases (catalytic subunits)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(2)											96	95	96			NA	NA	12		NA											NA				133201511		2203	4300	6503	SO:0001583	missense				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084	5426	5426		DNA polymerases	9177	protein-coding gene	gene with protein product	DNA polymerase epsilon catalytic subunit A	174762	polymerase (DNA directed), epsilon		NA	8020968	Standard	NM_006231	NM_006231	NA	Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.6727G>A	12.37:g.133201511C>T	ENSP00000322570:p.Ala2243Thr	NA	Q13533|Q86VH9	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	1.455	-0.564026	0.03939	.	.	ENSG00000177084	ENST00000434528;ENST00000320574;ENST00000455752;ENST00000320557;ENST00000535270	T;T;T	0.02421	4.3;4.3;4.3	5.52	-8.86	0.00795	.	1.382530	0.04397	N	0.363543	T	0.01189	0.0039	N	0.03238	-0.38	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.0;0.001	T	0.48906	-0.8993	10	0.15952	T	0.53	.	6.3917	0.21591	0.3421:0.2121:0.0:0.4458	.	2243;453	Q07864;B3KS74	DPOE1_HUMAN;.	T	453;2243;2254;213;2216	ENSP00000322570:A2243T;ENSP00000406383:A2254T;ENSP00000445753:A2216T	ENSP00000322473:A213T	A	-	1	0	POLE	131711584	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-1.816000	0.01720	-1.280000	0.02402	-0.258000	0.10820	GCC	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397689.2		-	ENST00000320574.5	Missense_Mutation	SNP	12 : 133201511 - 133201511 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	257	42
TNKS2	80351	broad.mit.edu	37	10	93608297	93608297	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93608297G>A	ENST00000371627.4	+	19	2895	c.2516G>A	c.(2515-2517)aGc>aAc	p.S839N		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	839					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TCTGCAGCCAGCAGTCTTGAC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	101	104			NA	NA	10		NA											NA				93608297		2203	4300	6503	SO:0001583	missense			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854	80351	80351		Poly (ADP-ribose) polymerases, Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	15677	protein-coding gene	gene with protein product		607128			NA		Standard	NM_025235	NM_025235	NA	Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.2516G>A	10.37:g.93608297G>A	ENSP00000360689:p.Ser839Asn	NA	Q9H8F2|Q9HAS4	37	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052890	0.75960	.	.	ENSG00000107854	ENST00000371627	T	0.64991	-0.13	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.58047	0.2095	L	0.53249	1.67	0.45914	D	0.998755	P	0.45348	0.856	B	0.38562	0.276	T	0.55915	-0.8065	10	0.16420	T	0.52	.	20.0155	0.97477	0.0:0.0:1.0:0.0	.	839	Q9H2K2	TNKS2_HUMAN	N	839	ENSP00000360689:S839N	ENSP00000360689:S839N	S	+	2	0	TNKS2	93598277	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.310000	0.78947	2.742000	0.94016	0.591000	0.81541	AGC	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049374.1		+	ENST00000371627.4	Missense_Mutation	SNP	10 : 93608297 - 93608297 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	441	79
COL4A4	1286	broad.mit.edu	37	2	228004944	228004944	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228004944T>G	ENST00000396625.3	-	4	332	c.125A>C	c.(124-126)aAa>aCa	p.K42T	COL4A4_ENST00000329662.7_Missense_Mutation_p.K42T	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	42	7S domain.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ACCAATGTATTTCTTTCCACT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	97	98			NA	NA	2		NA											NA				228004944		1912	4127	6039	SO:0001583	missense				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052	1286	1286		Collagens	2206	protein-coding gene	gene with protein product	collagen of basement membrane, alpha-4 chain	120131			NA	1639407	Standard	NM_000092	NM_000092	NA	Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.125A>C	2.37:g.228004944T>G	ENSP00000379866:p.Lys42Thr	NA	A8MTZ1|Q53RW9|Q53S42|Q53WR1	37	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.079944	0.76528	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.91124	-2.79;-2.76	5.91	5.91	0.95273	.	.	.	.	.	D	0.90844	0.7124	N	0.19112	0.55	0.32287	N	0.566803	D	0.89917	1.0	D	0.85130	0.997	D	0.90618	0.4557	9	0.37606	T	0.19	.	12.7401	0.57246	0.0:0.0:0.0:1.0	.	42	P53420	CO4A4_HUMAN	T	42	ENSP00000379866:K42T;ENSP00000328553:K42T	ENSP00000328553:K42T	K	-	2	0	COL4A4	227713188	1.000000	0.71417	0.987000	0.45799	0.926000	0.56050	2.456000	0.44997	2.254000	0.74563	0.533000	0.62120	AAA	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313770.1		-	ENST00000396625.3	Missense_Mutation	SNP	2 : 228004944 - 228004944 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	306	24
MLIP	90523	broad.mit.edu	37	6	54066908	54066908	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54066908G>T	ENST00000514921.1	+	11	2675	c.2562G>T	c.(2560-2562)aaG>aaT	p.K854N	MLIP_ENST00000358276.5_Missense_Mutation_p.K230N|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000502396.1_Missense_Mutation_p.K865N|MLIP_ENST00000274897.5_Missense_Mutation_p.K330N|MLIP_ENST00000370876.2_Missense_Mutation_p.K174N|MLIP_ENST00000509997.1_Missense_Mutation_p.K184N|MLIP_ENST00000370877.2_Missense_Mutation_p.K226N	NM_001281746.1	NP_001268675.1	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	330						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						TGAAGACTAAGCCTGGAGTAA	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	59	58			NA	NA	6		NA											NA				54066908		2203	4300	6503	SO:0001583	missense			AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147	90523	90523			21355	protein-coding gene	gene with protein product	muscle-enriched A-type lamin interacting protein	614106	chromosome 6 open reading frame 142	C6orf142	NA	21498514	Standard	NM_138569	NM_138569	NA	Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000514921.1:c.2562G>T	6.37:g.54066908G>T	ENSP00000425142:p.Lys854Asn	NA	B7Z2N0|Q96H08|Q96NF7	37		.	.	.	.	.	.	.	.	.	.	G	17.97	3.518656	0.64634	.	.	ENSG00000146147	ENST00000274897;ENST00000514921;ENST00000370877;ENST00000509997;ENST00000370876;ENST00000447836;ENST00000502396;ENST00000358276;ENST00000514433	T;T;T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01	5.64	-0.299	0.12808	.	0.000000	0.64402	D	0.000001	T	0.40498	0.1119	M	0.63843	1.955	0.25392	N	0.988511	P;D;D;D	0.89917	0.932;1.0;1.0;1.0	P;D;D;D	0.87578	0.66;0.998;0.983;0.998	T	0.26573	-1.0099	10	0.72032	D	0.01	-4.2592	7.7876	0.29101	0.6326:0.0:0.3674:0.0	.	865;174;330;854	Q5VWP3-3;Q5VWP3-2;Q5VWP3;D6RE05	.;.;MLIP_HUMAN;.	N	330;854;226;184;174;164;865;230;259	ENSP00000274897:K330N;ENSP00000425142:K854N;ENSP00000359914:K226N;ENSP00000427584:K184N;ENSP00000359913:K174N;ENSP00000411917:K164N;ENSP00000426290:K865N;ENSP00000351019:K230N;ENSP00000421444:K259N	ENSP00000274897:K330N	K	+	3	2	MLIP	54174867	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	1.073000	0.30691	0.011000	0.14865	0.585000	0.79938	AAG	MLIP-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000360019.1		+	ENST00000514921.1	Missense_Mutation	SNP	6 : 54066908 - 54066908 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	264	38
PHLDB2	90102	broad.mit.edu	37	3	111639200	111639200	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111639200G>A	ENST00000495180.1	+	4	715	c.693G>A	c.(691-693)gaG>gaA	p.E231E	PHLDB2_ENST00000393925.3_Silent_p.E645E|PHLDB2_ENST00000412622.1_Silent_p.E645E|PHLDB2_ENST00000431670.2_Silent_p.E645E|PHLDB2_ENST00000393923.3_Silent_p.E672E|PHLDB2_ENST00000481953.1_Silent_p.E645E			Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	645						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGGAGAAGGAGATTTTGGATC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	121	120			NA	NA	3		NA											NA				111639200		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824	90102	90102		Pleckstrin homology (PH) domain containing	29573	protein-coding gene	gene with protein product		610298			NA	12376540	Standard	NM_145753	NM_145753	NA	Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000495180.1:c.693G>A	3.37:g.111639200G>A		NA	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	37																																																																																				PHLDB2-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000354340.1		+	ENST00000495180.1	Silent	SNP	3 : 111639200 - 111639200 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	435	67
CTNNA1	1495	broad.mit.edu	37	5	138221925	138221925	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138221925G>A	ENST00000518825.1	+	7	1089	c.1087G>A	c.(1087-1089)Gca>Aca	p.A363T	CTNNA1_ENST00000302763.7_Missense_Mutation_p.A363T|CTNNA1_ENST00000355078.5_Missense_Mutation_p.A260T|CTNNA1_ENST00000520400.1_3'UTR|CTNNA1_ENST00000540387.1_5'UTR			P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	363	Interaction with alpha-actinin.				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAGAAGTGATGCACTCAATTC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	143	141			NA	NA	5		NA											NA				138221925		2203	4300	6503	SO:0001583	missense			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115	1495	1495			2509	protein-coding gene	gene with protein product		116805	catenin (cadherin-associated protein), alpha 1 (102kD)		NA	1924379	Standard	NM_001903	XM_005271898	NA	Approved	CAP102	uc003ldh.3	P35221		ENST00000518825.1:c.1087G>A	5.37:g.138221925G>A	ENSP00000427821:p.Ala363Thr	NA	Q12795	37		.	.	.	.	.	.	.	.	.	.	G	11.17	1.559375	0.27827	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825	T;T;T	0.38887	1.11;1.11;1.11	5.82	4.95	0.65309	.	0.103523	0.64402	D	0.000004	T	0.30510	0.0767	N	0.21373	0.66	0.80722	D	1	B;B;B	0.15473	0.013;0.009;0.008	B;B;B	0.19666	0.025;0.006;0.026	T	0.06789	-1.0807	10	0.15066	T	0.55	-10.4149	15.9414	0.79756	0.0:0.0:0.8638:0.1362	.	363;240;363	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	T	260;363;363;348;363	ENSP00000347190:A260T;ENSP00000304669:A363T;ENSP00000427821:A363T	ENSP00000304669:A363T	A	+	1	0	CTNNA1	138249824	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.597000	0.67577	1.447000	0.47661	-0.182000	0.12963	GCA	CTNNA1-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000373876.1		+	ENST00000518825.1	Missense_Mutation	SNP	5 : 138221925 - 138221925 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	650	45
ZNF708	7562	broad.mit.edu	37	19	21492088	21492088	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21492088G>T	ENST00000356929.3	-	3	383	c.186C>A	c.(184-186)ccC>ccA	p.P62P		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	62	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TCATATTCCAGGGCTCTTTTC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	117	118			NA	NA	19		NA											NA				21492088		2203	4300	6503	SO:0001819	synonymous_variant			X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141	7562	7562		Zinc fingers, C2H2-type, -	12945	protein-coding gene	gene with protein product			zinc finger protein 15-like 1 (KOX 8), zinc finger protein 708, zinc finger protein 708 (KOX8)	ZNF15, ZNF15L1	NA	2014798	Standard	NM_021269	NM_021269	NA	Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.186C>A	19.37:g.21492088G>T		NA	Q6ZMR0	37	CCDS32980.1																																																																																			ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463953.1		-	ENST00000356929.3	Silent	SNP	19 : 21492088 - 21492088 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	875	120
AHNAK	79026	broad.mit.edu	37	11	62299043	62299043	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62299043G>T	ENST00000378024.4	-	5	3120	c.2846C>A	c.(2845-2847)cCt>cAt	p.P949H	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	949					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTCCACATCAGGCATGGAGAT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	165	161			NA	NA	11		NA											NA				62299043		2202	4299	6501	SO:0001583	missense			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942	79026	79026			347	protein-coding gene	gene with protein product	desmoyokin	103390	AHNAK nucleoprotein (desmoyokin)		NA	7987395, 12153988	Standard	NM_024060	NM_024060	NA	Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.2846C>A	11.37:g.62299043G>T	ENSP00000367263:p.Pro949His	NA		37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	19.41	3.821686	0.71028	.	.	ENSG00000124942	ENST00000378024	T	0.05786	3.39	4.78	4.78	0.61160	.	0.133316	0.51477	D	0.000095	T	0.39279	0.1072	H	0.96015	3.755	0.41368	D	0.987472	D	0.89917	1.0	D	0.87578	0.998	T	0.60596	-0.7232	10	0.72032	D	0.01	-5.9758	17.7797	0.88520	0.0:0.0:1.0:0.0	.	949	Q09666	AHNK_HUMAN	H	949	ENSP00000367263:P949H	ENSP00000367263:P949H	P	-	2	0	AHNAK	62055619	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.298000	0.78815	2.358000	0.79984	0.455000	0.32223	CCT	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395572.1		-	ENST00000378024.4	Missense_Mutation	SNP	11 : 62299043 - 62299043 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1342	201
PCK2	5106	broad.mit.edu	37	14	24567497	24567497	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24567497C>T	ENST00000561286.1	+	0	290				PCK2_ENST00000545054.2_5'UTR|PCK2_ENST00000396973.4_Nonsense_Mutation_p.Q121*|PCK2_ENST00000559250.1_Nonsense_Mutation_p.Q133*|PCK2_ENST00000558096.1_5'UTR|NRL_ENST00000561028.1_Intron|PCK2_ENST00000216780.4_Nonsense_Mutation_p.Q121*			Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	NA					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		GGACACGGTACAACTCCCGCC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	45	49			NA	NA	14		NA											NA				24567497		2203	4300	6503	SO:0001623	5_prime_UTR_variant			AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	5106	5106	4.1.1.32		8725	protein-coding gene	gene with protein product		614095			NA	8645161, 9657976	Standard	NM_001018073	XM_005267726	NA	Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000561286.1:c.-42C>T	14.37:g.24567497C>T		NA	O43253|Q86U01|Q9BV62	37		.	.	.	.	.	.	.	.	.	.	C	35	5.478142	0.96291	.	.	ENSG00000100889	ENST00000216780;ENST00000396973	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-14.3507	16.1997	0.82060	0.0:1.0:0.0:0.0	.	.	.	.	X	121	.	ENSP00000216780:Q121X	Q	+	1	0	PCK2	23637337	1.000000	0.71417	0.992000	0.48379	0.478000	0.33099	7.487000	0.81328	2.419000	0.82065	0.462000	0.41574	CAA	PCK2-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000416426.1		+	ENST00000561286.1	5'UTR	SNP	14 : 24567497 - 24567497 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	168	37
PCDH12	51294	broad.mit.edu	37	5	141334893	141334893	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141334893G>T	ENST00000231484.3	-	1	3734	c.2524C>A	c.(2524-2526)Ctg>Atg	p.L842M		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	842					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTCTTGCAGCACCTCTCGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	75	77			NA	NA	5		NA											NA				141334893		2203	4300	6503	SO:0001583	missense			AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555	51294	51294		Cadherins / Protocadherins : Non-clustered	8657	protein-coding gene	gene with protein product		605622			NA	10716726, 10380929	Standard	NM_016580	NM_016580	NA	Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.2524C>A	5.37:g.141334893G>T	ENSP00000231484:p.Leu842Met	NA	Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	37	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.662690	0.47572	.	.	ENSG00000113555	ENST00000231484	T	0.55588	0.51	5.07	3.14	0.36123	.	0.316056	0.26065	N	0.026552	T	0.58694	0.2140	L	0.60455	1.87	0.29589	N	0.848538	D	0.67145	0.996	P	0.59703	0.862	T	0.55970	-0.8056	10	0.54805	T	0.06	.	6.1411	0.20261	0.2281:0.0:0.7719:0.0	.	842	Q9NPG4	PCD12_HUMAN	M	842	ENSP00000231484:L842M	ENSP00000231484:L842M	L	-	1	2	PCDH12	141315077	0.998000	0.40836	0.933000	0.37362	0.209000	0.24338	3.312000	0.51927	1.381000	0.46364	0.561000	0.74099	CTG	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251858.1		-	ENST00000231484.3	Missense_Mutation	SNP	5 : 141334893 - 141334893 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	438	64
USP33	23032	broad.mit.edu	37	1	78201795	78201795	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78201795C>T	ENST00000370793.1	-	7	839	c.493G>A	c.(493-495)Gta>Ata	p.V165I	USP33_ENST00000370792.3_Missense_Mutation_p.V165I|USP33_ENST00000370794.3_Missense_Mutation_p.V134I|USP33_ENST00000357428.1_Missense_Mutation_p.V165I	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	165					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TCATCAAATACGGCAACCAGA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(152;72 1870 11110 26780 42647)							NA				0													123	120	121			NA	NA	1		NA											NA				78201795		2203	4300	6503	SO:0001583	missense			AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254	23032	23032		Ubiquitin-specific peptidases	20059	protein-coding gene	gene with protein product		615146	ubiquitin specific protease 33		NA	12838346	Standard	NM_015017	NM_015017	NA	Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.493G>A	1.37:g.78201795C>T	ENSP00000359829:p.Val165Ile	NA	Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	37	CCDS678.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244701	0.59103	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792;ENST00000524536	T;T;T;T;T	0.30714	2.91;2.91;2.91;2.9;1.52	5.17	5.17	0.71159	.	1.261780	0.05306	N	0.523893	T	0.16811	0.0404	L	0.55481	1.735	0.30780	N	0.742131	B;P	0.51351	0.121;0.944	B;B	0.36092	0.044;0.217	T	0.06991	-1.0796	10	0.38643	T	0.18	.	13.3687	0.60701	0.0:0.9237:0.0:0.0763	.	165;165	Q8TEY7-3;Q8TEY7	.;UBP33_HUMAN	I	134;165;165;165;165	ENSP00000359830:V134I;ENSP00000359829:V165I;ENSP00000350009:V165I;ENSP00000359828:V165I;ENSP00000434441:V165I	ENSP00000350009:V165I	V	-	1	0	USP33	77974383	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.178000	0.58284	2.589000	0.87451	0.491000	0.48974	GTA	USP33-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026923.2		-	ENST00000370793.1	Missense_Mutation	SNP	1 : 78201795 - 78201795 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	405	77
PLXNA2	5362	broad.mit.edu	37	1	208224623	208224623	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208224623C>T	ENST00000367033.3	-	16	3896	c.3139G>A	c.(3139-3141)Gag>Aag	p.E1047K		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1047	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CACTCTGGCTCGATGCGCTGG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	66	69			NA	NA	1		NA											NA				208224623		2203	4300	6503	SO:0001583	missense			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356	5362	5362		Plexins	9100	protein-coding gene	gene with protein product	plexin 2, plexin-A2, semaphorin receptor OCT, transmembrane protein OCT	601054		PLXN2	NA	8570614	Standard	NM_025179	NM_025179	NA	Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.3139G>A	1.37:g.208224623C>T	ENSP00000356000:p.Glu1047Lys	NA	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	37	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604567	0.87157	.	.	ENSG00000076356	ENST00000367033	T	0.77489	-1.1	5.09	5.09	0.68999	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.048539	0.85682	D	0.000000	T	0.80265	0.4591	L	0.56396	1.775	0.80722	D	1	D	0.59767	0.986	P	0.51742	0.678	T	0.76429	-0.2962	10	0.12766	T	0.61	.	18.5087	0.90907	0.0:1.0:0.0:0.0	.	1047	O75051	PLXA2_HUMAN	K	1047	ENSP00000356000:E1047K	ENSP00000356000:E1047K	E	-	1	0	PLXNA2	206291246	1.000000	0.71417	0.989000	0.46669	0.956000	0.61745	7.485000	0.81204	2.363000	0.80096	0.557000	0.71058	GAG	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088932.6		-	ENST00000367033.3	Missense_Mutation	SNP	1 : 208224623 - 208224623 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	362	53
FUS	2521	broad.mit.edu	37	16	31202336	31202336	+	Silent	SNP	C	C	T	rs112061837		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31202336C>T	ENST00000254108.7	+	14	1551	c.1446C>T	c.(1444-1446)ggC>ggT	p.G482G	FUS_ENST00000474990.1_3'UTR|FUS_ENST00000568685.1_Silent_p.G483G|FUS_ENST00000380244.3_Silent_p.G481G	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	482	Arg/Gly-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		ATGATCGAGGCGGCTACCGGG	0.602		NA	T	DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1	liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		16	16p11.2	2521	fusion, derived from t(12;16) malignant liposarcoma		M, L	0													47	57	54			NA	NA	16		NA											NA				31202336		2196	4300	6496	SO:0001819	synonymous_variant			AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280	2521	2521		RNA binding motif (RRM) containing	4010	protein-coding gene	gene with protein product	heterogeneous nuclear ribonucleoprotein P2, translocated in liposarcoma	137070	fusion, derived from t(12;16) malignant liposarcoma, amyotrophic lateral sclerosis 6, fusion (involved in t(12;16) in malignant liposarcoma), fused in sarcoma	ALS6	NA	2372777, 7503811, 19251628, 19251627	Standard	NM_004960	NM_004960	NA	Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.1446C>T	16.37:g.31202336C>T		NA	Q9H4A8	37	CCDS10707.1																																																																																			FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255526.2		+	ENST00000254108.7	Silent	SNP	16 : 31202336 - 31202336 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	688	124
KCNC4	3749	broad.mit.edu	37	1	110766034	110766034	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110766034C>T	ENST00000413138.3	+	2	1135	c.1127C>T	c.(1126-1128)gCc>gTc	p.A376V	KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000369787.3_Missense_Mutation_p.A376V|KCNC4_ENST00000438661.2_Missense_Mutation_p.A376V			Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	376					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		ACCCTGAGGGCCAGCACCAAT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	48	51			NA	NA	1		NA											NA				110766034		2203	4300	6503	SO:0001583	missense			BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396	3749	3749		Potassium channels, Voltage-gated ion channels / Potassium channels	6236	protein-coding gene	gene with protein product		176265	chromosome 1 open reading frame 30	C1orf30	NA	1920536, 1740329, 16382104	Standard	NM_001039574	NM_004978	NA	Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000413138.3:c.1127C>T	1.37:g.110766034C>T	ENSP00000388029:p.Ala376Val	NA	Q3MIM4|Q5TBI6	37		.	.	.	.	.	.	.	.	.	.	C	27.8	4.866427	0.91511	.	.	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	D;D;D	0.98732	-5.1;-5.1;-5.1	4.93	4.93	0.64822	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99399	0.9788	M	0.93507	3.425	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.994;0.999	D	0.98718	1.0707	10	0.72032	D	0.01	.	18.4936	0.90856	0.0:1.0:0.0:0.0	.	376;376;376	Q03721;Q03721-3;Q03721-2	KCNC4_HUMAN;.;.	V	376	ENSP00000358802:A376V;ENSP00000388029:A376V;ENSP00000393655:A376V	ENSP00000358802:A376V	A	+	2	0	KCNC4	110567557	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	7.776000	0.85560	2.445000	0.82738	0.462000	0.41574	GCC	KCNC4-006	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000390341.1		+	ENST00000413138.3	Missense_Mutation	SNP	1 : 110766034 - 110766034 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	328	34
NIM1	0	broad.mit.edu	37	5	43280362	43280362	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43280362A>C	ENST00000512796.1	+	4	2341	c.842A>C	c.(841-843)aAg>aCg	p.K281T	NIM1_ENST00000326035.2_Missense_Mutation_p.K281T			Q8IY84	NIM1_HUMAN		281	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity				NA						AAACTAAAAAAGAGCATCCTC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	72	77			NA	NA	5		NA											NA				43280362		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000512796.1:c.842A>C	5.37:g.43280362A>C	ENSP00000420849:p.Lys281Thr	NA	B3KVM1	37	CCDS3943.1	.	.	.	.	.	.	.	.	.	.	A	10.05	1.245485	0.22796	.	.	ENSG00000177453	ENST00000326035;ENST00000512796	T;T	0.65916	-0.18;-0.18	5.73	3.33	0.38152	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.188863	0.45867	D	0.000326	T	0.53883	0.1824	L	0.48362	1.52	0.45066	D	0.998086	B	0.09022	0.002	B	0.19666	0.026	T	0.49485	-0.8935	10	0.56958	D	0.05	.	10.0308	0.42099	0.8633:0.0:0.1367:0.0	.	281	Q8IY84	NIM1_HUMAN	T	281	ENSP00000313572:K281T;ENSP00000420849:K281T	ENSP00000313572:K281T	K	+	2	0	AC114947.1	43316119	1.000000	0.71417	0.977000	0.42913	0.393000	0.30537	4.224000	0.58593	0.446000	0.26666	0.533000	0.62120	AAG	NIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368017.1		+	ENST00000512796.1	Missense_Mutation	SNP	5 : 43280362 - 43280362 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	373	78
TMTC2	160335	broad.mit.edu	37	12	83290240	83290240	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:83290240T>G	ENST00000549919.1	+	4	3085	c.1280T>G	c.(1279-1281)cTa>cGa	p.L427R	TMTC2_ENST00000548305.1_Missense_Mutation_p.L433R|TMTC2_ENST00000321196.3_Missense_Mutation_p.L433R			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	433						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GGCTTCTGCCTACTGATTACA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	111	113			NA	NA	12		NA											NA				83290240		2203	4300	6503	SO:0001583	missense			AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104	160335	160335		Tetratricopeptide (TTC) repeat domain containing	25440	protein-coding gene	gene with protein product		615856			NA	24764305	Standard	NM_152588	NM_152588	NA	Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000549919.1:c.1280T>G	12.37:g.83290240T>G	ENSP00000447609:p.Leu427Arg	NA	B2RCU7|Q8N2K8	37		.	.	.	.	.	.	.	.	.	.	T	19.66	3.869647	0.72065	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919;ENST00000546590	T;T;T	0.47869	0.83;0.83;0.83	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.73233	0.3561	M	0.87038	2.855	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.77557	0.988;0.99;0.988	T	0.78193	-0.2299	10	0.66056	D	0.02	-14.4338	16.2652	0.82574	0.0:0.0:0.0:1.0	.	433;188;433	Q8N394;F8VRQ2;F8VSH2	TMTC2_HUMAN;.;.	R	433;433;427;188	ENSP00000322300:L433R;ENSP00000448292:L433R;ENSP00000447609:L427R	ENSP00000322300:L433R	L	+	2	0	TMTC2	81814371	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.698000	0.84413	2.241000	0.73720	0.528000	0.53228	CTA	TMTC2-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000405665.1		+	ENST00000549919.1	Missense_Mutation	SNP	12 : 83290240 - 83290240 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	504	92
FOXO3	2309	broad.mit.edu	37	6	108985303	108985303	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108985303C>A	ENST00000343882.6	+	3	1571	c.1267C>A	c.(1267-1269)Ctg>Atg	p.L423M	FOXO3_ENST00000540898.1_Missense_Mutation_p.L203M|FOXO3_ENST00000406360.1_Missense_Mutation_p.L423M	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	423					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 factor binding			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		GGGCTCGGGCCTGGGCTCCCC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	72	70			NA	NA	6		NA											NA				108985303		2203	4300	6503	SO:0001583	missense			AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689	2309	2309		Forkhead boxes	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A	NA	9479491	Standard		NM_001455	NA	Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.1267C>A	6.37:g.108985303C>A	ENSP00000339527:p.Leu423Met	NA	E1P5E6|O15171|Q5T2I7|Q9BZ04	37	CCDS5068.1	.	.	.	.	.	.	.	.	.	.	C	9.363	1.068588	0.20067	.	.	ENSG00000118689	ENST00000343882;ENST00000406360;ENST00000540258;ENST00000540898	D;D;D	0.96967	-4.19;-4.19;-4.19	5.81	3.11	0.35812	.	0.613858	0.16574	N	0.208517	D	0.88665	0.6498	L	0.53249	1.67	0.43394	D	0.995517	P	0.45283	0.855	B	0.35859	0.212	D	0.84560	0.0649	10	0.45353	T	0.12	-2.6743	6.1388	0.20249	0.1303:0.6724:0.0:0.1973	.	423	O43524	FOXO3_HUMAN	M	423;423;203;203	ENSP00000339527:L423M;ENSP00000385824:L423M;ENSP00000446316:L203M	ENSP00000339527:L423M	L	+	1	2	FOXO3	109091996	1.000000	0.71417	0.839000	0.33178	0.823000	0.46562	3.218000	0.51192	0.388000	0.25054	0.462000	0.41574	CTG	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041722.2		+	ENST00000343882.6	Missense_Mutation	SNP	6 : 108985303 - 108985303 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	649	93
SEMA5B	54437	broad.mit.edu	37	3	122632714	122632714	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122632714C>T	ENST00000357599.3	-	15	2509	c.2123G>A	c.(2122-2124)cGg>cAg	p.R708Q	SEMA5B_ENST00000195173.4_Missense_Mutation_p.R708Q|SEMA5B_ENST00000451055.2_Missense_Mutation_p.R762Q	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	708	TSP type-1 1.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CCGTTCCTCCCGGCTCTTGCC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	56	55			NA	NA	3		NA											NA				122632714		2203	4300	6503	SO:0001583	missense			AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684	54437	54437		Semaphorins	10737	protein-coding gene	gene with protein product		609298		SEMAG	NA	8817451	Standard	NM_001031702	NM_001256346	NA	Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.2123G>A	3.37:g.122632714C>T	ENSP00000350215:p.Arg708Gln	NA	A8K5U2|Q6DD89|Q6UY12|Q9NW17	37	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001554	0.93227	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.58666	0.2138	L	0.37507	1.11	0.58432	D	0.999997	D;D;D	0.71674	0.997;0.998;0.998	P;D;D	0.68353	0.897;0.937;0.957	T	0.55872	-0.8072	10	0.39692	T	0.17	.	17.513	0.87765	0.0:1.0:0.0:0.0	.	650;708;708	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	Q	708;708;650;762;708	ENSP00000350215:R708Q;ENSP00000195173:R708Q;ENSP00000389588:R762Q;ENSP00000377208:R708Q	ENSP00000195173:R708Q	R	-	2	0	SEMA5B	124115404	1.000000	0.71417	0.994000	0.49952	0.855000	0.48748	7.633000	0.83260	2.614000	0.88457	0.555000	0.69702	CGG	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277165.1		-	ENST00000357599.3	Missense_Mutation	SNP	3 : 122632714 - 122632714 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	649	133
GABRD	2563	broad.mit.edu	37	1	1961614	1961614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1961614C>T	ENST00000378585.4	+	9	1335	c.1252C>T	c.(1252-1254)Cgg>Tgg	p.R418W		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	418						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CATCCGTGCCCGGCTCAGGCC	0.662		NA											C	1	5e-04	NA	NA	2184	NA	0.9999	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.8803	EXOME	NA	NA	3e-04	SNP								NA				0								C	TRP/ARG	1,4403		0,1,2201	59	59	59		1252	0.4	0	1		59	0,8598		0,0,4299	no	missense	GABRD	NM_000815.4	101	0,1,6500	TT,TC,CC	NA	0.0,0.0227,0.0077	possibly-damaging	418/453	1961614	1,13001	2202	4299	6501	SO:0001583	missense			BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730	2563	2563		GABA receptors, Ligand-gated ion channels / GABA(A) receptors	4084	protein-coding gene	gene with protein product	GABA(A) receptor, delta	137163			NA	2176788, 10965146	Standard	NM_000815	NM_000815	NA	Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.1252C>T	1.37:g.1961614C>T	ENSP00000367848:p.Arg418Trp	NA	Q8N4N9	37	CCDS36.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	7.752	0.703535	0.15172	2.27E-4	0.0	ENSG00000187730	ENST00000378585	D	0.85088	-1.94	3.82	0.383	0.16239	Neurotransmitter-gated ion-channel transmembrane domain (1);	2.159450	0.01848	N	0.035703	T	0.68622	0.3021	N	0.08118	0	0.09310	N	0.999999	P	0.46327	0.876	B	0.34452	0.183	T	0.66143	-0.5997	10	0.72032	D	0.01	-6.4253	6.0845	0.19960	0.4046:0.4988:0.0:0.0966	.	418	O14764	GBRD_HUMAN	W	418	ENSP00000367848:R418W	ENSP00000367848:R418W	R	+	1	2	GABRD	1951474	0.065000	0.20965	0.005000	0.12908	0.110000	0.19582	1.570000	0.36439	0.241000	0.21283	-0.325000	0.08501	CGG	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000098493.1		+	ENST00000378585.4	Missense_Mutation	SNP	1 : 1961614 - 1961614 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	659	61
RNF157	114804	broad.mit.edu	37	17	74169858	74169858	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74169858G>A	ENST00000269391.6	-	3	353	c.221C>T	c.(220-222)gCc>gTc	p.A74V	RNF157_ENST00000319945.6_Missense_Mutation_p.A74V	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	74							zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			GGGAGGTGGGGCGGCGTAAGG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(186;507 2120 27388 27773 52994)							NA				0													48	42	44			NA	NA	17		NA											NA				74169858		2203	4300	6503	SO:0001583	missense			AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576	114804	114804		RING-type (C3HC4) zinc fingers	29402	protein-coding gene	gene with protein product					NA	11572484	Standard	XM_290732	NM_052916	NA	Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.221C>T	17.37:g.74169858G>A	ENSP00000269391:p.Ala74Val	NA	Q8NB72|Q96N56	37	CCDS32740.1	.	.	.	.	.	.	.	.	.	.	G	33	5.264789	0.95399	.	.	ENSG00000141576	ENST00000269391;ENST00000319945;ENST00000301610	T;T	0.23552	1.9;1.9	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.41743	0.1172	L	0.46157	1.445	0.80722	D	1	D;P	0.54772	0.968;0.786	P;P	0.59115	0.852;0.621	T	0.10405	-1.0631	10	0.41790	T	0.15	-25.5121	18.3016	0.90165	0.0:0.0:1.0:0.0	.	74;74	Q96PX1-2;Q96PX1	.;RN157_HUMAN	V	74;74;36	ENSP00000269391:A74V;ENSP00000321837:A74V	ENSP00000269391:A74V	A	-	2	0	RNF157	71681453	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.699000	0.98703	2.389000	0.81357	0.591000	0.81541	GCC	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255874.2		-	ENST00000269391.6	Missense_Mutation	SNP	17 : 74169858 - 74169858 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	109	14
OR4N2	390429	broad.mit.edu	37	14	20296521	20296521	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20296521A>G	ENST00000315947.1	+	1	914	c.914A>G	c.(913-915)cAc>cGc	p.H305R	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTAATAAGCACATAGCCTGA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	25	24			NA	NA	14		NA											NA				20296521		2187	4226	6413	SO:0001583	missense				CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294	390429	390429		GPCR / Class A : Olfactory receptors	14742	protein-coding gene	gene with protein product					NA		Standard		NM_001004723	NA	Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.914A>G	14.37:g.20296521A>G	ENSP00000319601:p.His305Arg	NA	Q6IEY9|Q6IFA2	37	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	5.566	0.289193	0.10513	.	.	ENSG00000176294	ENST00000315947	T	0.00001	9.91	4.57	2.05	0.26809	.	0.281551	0.25566	N	0.029790	T	0.00039	0.0001	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.01192	-1.1423	10	0.22706	T	0.39	.	6.2231	0.20693	0.674:0.1664:0.0:0.1596	.	305	Q8NGD1	OR4N2_HUMAN	R	305	ENSP00000319601:H305R	ENSP00000319601:H305R	H	+	2	0	OR4N2	19366361	0.003000	0.15002	0.001000	0.08648	0.009000	0.06853	1.702000	0.37836	0.301000	0.22738	0.482000	0.46254	CAC	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409821.2		+	ENST00000315947.1	Missense_Mutation	SNP	14 : 20296521 - 20296521 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	37
CLSTN1	22883	broad.mit.edu	37	1	9790629	9790629	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9790629G>A	ENST00000377298.4	-	19	3675	c.2883C>T	c.(2881-2883)ggC>ggT	p.G961G	CLSTN1_ENST00000377288.3_Silent_p.G942G|CLSTN1_ENST00000477264.1_5'UTR|CLSTN1_ENST00000361311.4_Silent_p.G951G	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	961					homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TCTGGGGGTCGCCCTGCTCCC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	82	87			NA	NA	1		NA											NA				9790629		2203	4300	6503	SO:0001819	synonymous_variant			AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603	22883	22883		Cadherins / Cadherin-related	17447	protein-coding gene	gene with protein product	cadherin-related family member 12	611321			NA	10048485	Standard		XM_005263432	NA	Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.2883C>T	1.37:g.9790629G>A		NA	A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	37	CCDS30580.1																																																																																			CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000004239.1		-	ENST00000377298.4	Silent	SNP	1 : 9790629 - 9790629 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	433	15
HRAS	3265	broad.mit.edu	37	11	533503	533503	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:533503C>T	ENST00000451590.1	-	4	587	c.400G>A	c.(400-402)Gcc>Acc	p.A134T	HRAS_ENST00000397594.1_Missense_Mutation_p.A134T|HRAS_ENST00000417302.1_Missense_Mutation_p.A134T|HRAS_ENST00000311189.7_Missense_Mutation_p.A134T|HRAS_ENST00000397596.2_Missense_Mutation_p.A134T	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	134					activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.A134S(2)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	TAGCTTCGGGCGAGGTCCTGA	0.662		6	Mis		infrequent sarcomas, rare other types	rhadomyosarcoma, ganglioneuroblastoma, bladder			Costello syndrome	HNSCC(11;0.0054)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Dom	yes	Costello syndrome	11	11p15.5	3265	v-Ha-ras Harvey rat sarcoma viral oncogene homolog		E, L, M	2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)											152	136	142			NA	NA	11		NA											NA				533503		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775	3265	3265			5173	protein-coding gene	gene with protein product		190020	v-Ha-ras Harvey rat sarcoma viral oncogene homolog	HRAS1	NA		Standard	NM_176795	NM_176795	NA	Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.400G>A	11.37:g.533503C>T	ENSP00000407586:p.Ala134Thr	NA	B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	37	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565125	0.86439	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58	4.08	3.14	0.36123	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.93387	0.7891	H	0.96748	3.875	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.72625	0.938;0.978	D	0.94475	0.7688	10	0.87932	D	0	.	12.9091	0.58171	0.0:0.8348:0.1651:0.0	.	134;134	P01112-2;P01112	.;RASH_HUMAN	T	134	ENSP00000380722:A134T;ENSP00000380723:A134T;ENSP00000407586:A134T;ENSP00000388246:A134T;ENSP00000309845:A134T	ENSP00000309845:A134T	A	-	1	0	HRAS	523503	1.000000	0.71417	0.885000	0.34714	0.857000	0.48899	5.759000	0.68785	0.801000	0.34066	0.561000	0.74099	GCC	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000259403.2		-	ENST00000451590.1	Missense_Mutation	SNP	11 : 533503 - 533503 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	683	112
MUC2	4583	broad.mit.edu	37	11	1102483	1102483	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1102483G>A	ENST00000441003.2	+	45	7894	c.7867G>A	c.(7867-7869)Gag>Aag	p.E2623K		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4985						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGCCCCCGGGGAGTGCTGTAA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	59	57			NA	NA	11		NA											NA				1102483		2069	4191	6260	SO:0001583	missense			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788	4583	4583		Mucins	7512	protein-coding gene	gene with protein product		158370	mucin 2, intestinal/tracheal		NA	15081123	Standard	NM_002457	NM_002457	NA	Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.7867G>A	11.37:g.1102483G>A	ENSP00000415183:p.Glu2623Lys	NA	Q14878	37		.	.	.	.	.	.	.	.	.	.	G	4.631	0.117264	0.08881	.	.	ENSG00000198788	ENST00000441003	T	0.66815	-0.23	3.78	1.65	0.23941	.	.	.	.	.	T	0.62708	0.2450	M	0.76574	2.34	0.19300	N	0.999975	P	0.47762	0.9	B	0.39419	0.299	T	0.53415	-0.8442	9	0.25751	T	0.34	.	11.85	0.52405	0.0:0.3331:0.6669:0.0	.	2623	E7EUV1	.	K	2623	ENSP00000415183:E2623K	ENSP00000415183:E2623K	E	+	1	0	MUC2	1092483	0.986000	0.35501	0.015000	0.15790	0.025000	0.11179	1.857000	0.39399	0.676000	0.31285	-0.304000	0.09214	GAG	MUC2-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000345894.2		+	ENST00000441003.2	Missense_Mutation	SNP	11 : 1102483 - 1102483 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	134	15
POR	5447	broad.mit.edu	37	7	75609862	75609862	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75609862G>A	ENST00000394893.1	+	5	536				POR_ENST00000545601.1_Intron|POR_ENST00000450476.1_Missense_Mutation_p.G12E|POR_ENST00000419840.1_Intron|POR_ENST00000461988.1_Intron			P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	NA					cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	CCTCCCTGGGGACTCCAGATC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001627	intron_variant			AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948	5447	5447			9208	protein-coding gene	gene with protein product		124015			NA	2516426	Standard	NM_000941	NM_000941	NA	Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413	ENST00000394893.1:c.516+56G>A	7.37:g.75609862G>A		NA	Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	37		.	.	.	.	.	.	.	.	.	.	G	14.50	2.555140	0.45487	.	.	ENSG00000127948	ENST00000450476	T	0.03094	4.05	3.16	-5.79	0.02354	.	.	.	.	.	T	0.01835	0.0058	.	.	.	0.19775	N	0.999955	P	0.34815	0.47	B	0.23574	0.047	T	0.39502	-0.9611	8	0.87932	D	0	.	0.3351	0.00325	0.374:0.1491:0.2365:0.2404	.	12	E7EVY7	.	E	12	ENSP00000416572:G12E	ENSP00000416572:G12E	G	+	2	0	POR	75447798	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.066000	0.03454	-1.195000	0.02680	0.465000	0.42564	GGA	POR-009	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000291358.4		+	ENST00000394893.1	Intron	SNP	7 : 75609862 - 75609862 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	257	66
CDH23	64072	broad.mit.edu	37	10	73447448	73447448	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73447448C>T	ENST00000224721.6	+	18	2051	c.2046C>T	c.(2044-2046)ttC>ttT	p.F682F	CDH23_ENST00000299366.7_Silent_p.F722F	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	677	Cadherin 7.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCGCCTACTTCGTCTCCGTGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	51	50			NA	NA	10		NA											NA				73447448		2073	4210	6283	SO:0001819	synonymous_variant			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736	64072	64072		Cadherins / Cadherin-related	13733	protein-coding gene	gene with protein product	cadherin-related family member 23	605516	cadherin related 23, cadherin-like 23	DFNB12, USH1D	NA	11090341	Standard	NM_052836	NM_022124	NA	Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.2046C>T	10.37:g.73447448C>T		NA	C4IXS9|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	37																																																																																				CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000051227.4		+	ENST00000224721.6	Silent	SNP	10 : 73447448 - 73447448 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	214	34
ESX1	80712	broad.mit.edu	37	X	103499510	103499510	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:103499510G>A	ENST00000372588.4	-	1	104	c.21C>T	c.(19-21)taC>taT	p.Y7Y		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	7					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						CACTGTGGGTGTACCCGCGAA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(200;1705 2227 25194 28471 45274)							NA				0													172	142	152			NA	NA	X		NA											NA				103499510		2203	4300	6503	SO:0001819	synonymous_variant			AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576	80712	80712		Homeoboxes / PRD class	14865	protein-coding gene	gene with protein product		300154	extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)	ESX1L	NA	11374906, 17242862	Standard	NM_153448	NM_153448	NA	Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.21C>T	X.37:g.103499510G>A		NA	B0QYU3|Q7Z6K7	37	CCDS14516.1																																																																																			ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057763.2		-	ENST00000372588.4	Silent	SNP	X : 103499510 - 103499510 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	873	255
TNRC6C	57690	broad.mit.edu	37	17	76089140	76089140	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76089140G>A	ENST00000588847.1	+	17	4815	c.4088G>A	c.(4087-4089)aGc>aAc	p.S1363N	TNRC6C_ENST00000335749.4_Missense_Mutation_p.S1363N|TNRC6C_ENST00000301624.4_Missense_Mutation_p.S1366N|TNRC6C_ENST00000541771.1_Missense_Mutation_p.S1366N|TNRC6C_ENST00000588061.1_Missense_Mutation_p.S1366N|TNRC6C_ENST00000544502.1_Missense_Mutation_p.S1363N			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1366					gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GTTCCCCATAGCTGGTCACGT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	64	65			NA	NA	17		NA											NA				76089140		2002	4187	6189	SO:0001583	missense			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687	57690	57690		Trinucleotide (CAG) repeat containing	29318	protein-coding gene	gene with protein product		610741			NA		Standard	NM_018996	NM_018996	NA	Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588847.1:c.4088G>A	17.37:g.76089140G>A	ENSP00000467154:p.Ser1363Asn	NA	Q86UE5|Q8N3D8|Q96MU9	37	CCDS45799.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171830	0.57584	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.16597	2.33;2.35;2.35;2.33	5.97	5.97	0.96955	.	0.038306	0.85682	D	0.000000	T	0.20251	0.0487	L	0.35723	1.085	0.58432	D	0.999999	P;B	0.42409	0.779;0.195	B;B	0.41813	0.367;0.043	T	0.00359	-1.1791	10	0.40728	T	0.16	-26.2854	20.4062	0.99009	0.0:0.0:1.0:0.0	.	1363;1366	G3XAB8;Q9HCJ0	.;TNR6C_HUMAN	N	1366;1363;1363;1366;1366;1363	ENSP00000336783:S1363N;ENSP00000301624:S1366N;ENSP00000440310:S1366N;ENSP00000442421:S1363N	ENSP00000301624:S1366N	S	+	2	0	TNRC6C	73600735	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.235000	0.72332	2.831000	0.97527	0.655000	0.94253	AGC	TNRC6C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255891.4		+	ENST00000588847.1	Missense_Mutation	SNP	17 : 76089140 - 76089140 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	214	42
GARS	2617	broad.mit.edu	37	7	30656818	30656818	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30656818G>A	ENST00000389266.3	+	10	1524	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	428					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GATAAACTCCGCTTCCGGCAG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	137	140			NA	NA	7		NA											NA				30656818		1938	4155	6093	SO:0001583	missense			AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	2617	2617	6.1.1.14	Aminoacyl tRNA synthetases / Class II	4162	protein-coding gene	gene with protein product	glycine tRNA ligase	600287	Charcot-Marie-Tooth neuropathy 2D	CMT2D	NA	8595897, 8872480	Standard	NM_002047	NM_002047	NA	Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.1283G>A	7.37:g.30656818G>A	ENSP00000373918:p.Arg428His	NA	B3KQA2|B4DIA0|Q969Y1	37	CCDS43564.1	.	.	.	.	.	.	.	.	.	.	G	33	5.200674	0.94997	.	.	ENSG00000106105	ENST00000389266	T	0.72051	-0.62	5.22	5.22	0.72569	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.87002	0.6069	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89500	0.3763	10	0.87932	D	0	-9.9164	16.6573	0.85232	0.0:0.0:1.0:0.0	.	428	P41250	SYG_HUMAN	H	428	ENSP00000373918:R428H	ENSP00000373918:R428H	R	+	2	0	GARS	30623343	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.827000	0.99397	2.603000	0.88011	0.557000	0.71058	CGC	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327735.1		+	ENST00000389266.3	Missense_Mutation	SNP	7 : 30656818 - 30656818 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	401	71
SLC17A3	10786	broad.mit.edu	37	6	25862558	25862558	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25862558C>A	ENST00000397060.4	-	3	315	c.206G>T	c.(205-207)aGc>aTc	p.S69I	SLC17A3_ENST00000360657.3_Missense_Mutation_p.S69I|SLC17A3_ENST00000361703.6_Missense_Mutation_p.S69I	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	69					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						AGGGCTTGTGCTGTTGACCAT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ILE/SER,ILE/SER	0,4406		0,0,2203	216	167	183		206,206	-0.3	0.9	6		183	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SLC17A3	NM_001098486.1,NM_006632.3	142,142	0,1,6502	AA,AC,CC	NA	0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	69/499,69/421	25862558	1,13005	2203	4300	6503	SO:0001583	missense			U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564	10786	10786		Solute carriers	10931	protein-coding gene	gene with protein product		611034	solute carrier family 17 (sodium phosphate), member 3		NA	9149941	Standard		NM_006632	NA	Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000397060.4:c.206G>T	6.37:g.25862558C>A	ENSP00000380250:p.Ser69Ile	NA	B7WNJ5|Q8WWC7|Q9H533	37	CCDS47385.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.587124	0.28268	0.0	1.16E-4	ENSG00000124564	ENST00000397060;ENST00000360657;ENST00000361703	T;T;T	0.64260	0.37;-0.09;-0.09	3.81	-0.328	0.12690	.	0.911600	0.09094	N	0.849515	T	0.52533	0.1740	M	0.69523	2.12	0.20638	N	0.999876	P;D;P;P	0.53151	0.845;0.958;0.828;0.845	B;P;P;B	0.61201	0.298;0.885;0.781;0.298	T	0.42396	-0.9454	10	0.19590	T	0.45	.	4.2789	0.10822	0.0:0.4057:0.3677:0.2265	.	69;50;69;69	B7Z531;B7Z3L7;B7Z511;O00476	.;.;.;NPT4_HUMAN	I	69	ENSP00000380250:S69I;ENSP00000353873:S69I;ENSP00000355307:S69I	ENSP00000353873:S69I	S	-	2	0	SLC17A3	25970537	0.239000	0.23836	0.874000	0.34290	0.911000	0.54048	-0.317000	0.08060	-0.091000	0.12440	0.557000	0.71058	AGC	SLC17A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040071.5		-	ENST00000397060.4	Missense_Mutation	SNP	6 : 25862558 - 25862558 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	455	26
RNF122	79845	broad.mit.edu	37	8	33406322	33406322	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:33406322A>G	ENST00000256257.1	-	6	818	c.417T>C	c.(415-417)agT>agC	p.S139S		NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN	ring finger protein 122	139						endoplasmic reticulum|Golgi apparatus|integral to membrane	zinc ion binding			endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		CCTCTGAGGGACTAGCAATGG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													260	221	235			NA	NA	8		NA											NA				33406322		2203	4300	6503	SO:0001819	synonymous_variant			AK022588	CCDS6091.1	8p12	2013-01-09			ENSG00000133874	ENSG00000133874	79845	79845		RING-type (C3HC4) zinc fingers	21147	protein-coding gene	gene with protein product					NA		Standard	NM_024787	NM_024787	NA	Approved	FLJ12526	uc003xjo.1	Q9H9V4	OTTHUMG00000163960	ENST00000256257.1:c.417T>C	8.37:g.33406322A>G		NA	Q52LK3	37	CCDS6091.1																																																																																			RNF122-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376562.1		-	ENST00000256257.1	Silent	SNP	8 : 33406322 - 33406322 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	799	132
ARID1B	57492	broad.mit.edu	37	6	157505566	157505566	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:157505566C>A	ENST00000346085.5	+	13	3548	c.3547C>A	c.(3547-3549)Cct>Act	p.P1183T	ARID1B_ENST00000367148.1_Missense_Mutation_p.P1223T|ARID1B_ENST00000350026.5_Missense_Mutation_p.P1170T|ARID1B_ENST00000275248.4_Missense_Mutation_p.P1165T	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1170					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GCCGCCATCTCCTGGTAAGTG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	25	24			NA	NA	6		NA											NA				157505566		2203	4295	6498	SO:0001583	missense			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618	57492	57492		-	18040	protein-coding gene	gene with protein product		614556			NA		Standard	NM_020732	NM_017519	NA	Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000346085.5:c.3547C>A	6.37:g.157505566C>A	ENSP00000344546:p.Pro1183Thr	NA	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	37	CCDS55072.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.022586	0.93462	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000414678;ENST00000319584;ENST00000400790	T;T;T;T;T;T;T	0.33865	4.49;4.48;4.5;4.52;4.15;2.07;1.39	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.52484	0.1737	L	0.55990	1.75	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.999;0.999	T	0.51857	-0.8652	10	0.87932	D	0	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	420;1170;1183;1165	Q8NFD5-4;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	T	1183;1170;1223;1165;640;692;645;237	ENSP00000344546:P1183T;ENSP00000055163:P1170T;ENSP00000356116:P1223T;ENSP00000275248:P1165T;ENSP00000412835:P692T;ENSP00000313006:P645T;ENSP00000383596:P237T	ENSP00000275248:P1165T	P	+	1	0	ARID1B	157547258	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.810000	0.86072	2.793000	0.96121	0.655000	0.94253	CCT	ARID1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042827.3		+	ENST00000346085.5	Missense_Mutation	SNP	6 : 157505566 - 157505566 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	237	40
CUBN	8029	broad.mit.edu	37	10	16878269	16878269	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16878269C>A	ENST00000377833.4	-	63	10210	c.10145G>T	c.(10144-10146)aGa>aTa	p.R3382I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3382	CUB 25.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCTAGAGTTTCTGTTTACAAC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	69	69			NA	NA	10		NA											NA				16878269		2203	4300	6503	SO:0001583	missense			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611	8029	8029			2548	protein-coding gene	gene with protein product		602997		MGA1	NA	9572993, 9478979	Standard	NM_001081	NM_001081	NA	Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10145G>T	10.37:g.16878269C>A	ENSP00000367064:p.Arg3382Ile	NA	B0YIZ4|Q5VTA6|Q96RU9	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.419323	0.25552	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.34472	1.36	4.89	-2.12	0.07165	CUB (4);	0.986847	0.08229	N	0.977876	T	0.19446	0.0467	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.23261	-1.0193	10	0.29301	T	0.29	.	1.7924	0.03054	0.3558:0.1684:0.3245:0.1514	.	3382	O60494	CUBN_HUMAN	I	3382;223	ENSP00000367064:R3382I	ENSP00000367064:R3382I	R	-	2	0	CUBN	16918275	0.000000	0.05858	0.001000	0.08648	0.302000	0.27658	-2.237000	0.01200	-0.517000	0.06461	-0.311000	0.09066	AGA	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047009.1		-	ENST00000377833.4	Missense_Mutation	SNP	10 : 16878269 - 16878269 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	65
GRIA1	2890	broad.mit.edu	37	5	152873617	152873617	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:152873617C>T	ENST00000518783.1	+	2	269	c.242C>T	c.(241-243)aCc>aTc	p.T81I	GRIA1_ENST00000285900.5_Missense_Mutation_p.T71I|GRIA1_ENST00000518142.1_Missense_Mutation_p.T71I|GRIA1_ENST00000521843.2_Missense_Mutation_p.T2I|GRIA1_ENST00000448073.4_Missense_Mutation_p.T81I|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000340592.5_Missense_Mutation_p.T71I	NM_001258021.1	NP_001244950.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	71					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTTGAGATGACCTATAGATGT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	85	85			NA	NA	5		NA											NA				152873617		2203	4300	6503	SO:0001583	missense				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511	NA	2890		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4571	protein-coding gene	gene with protein product		138248		GLUR1	NA	1652753, 1319477	Standard		NM_000827	NA	Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000518783.1:c.242C>T	5.37:g.152873617C>T	ENSP00000428994:p.Thr81Ile	NA	D3DQI4|Q2NKM6	37	CCDS58987.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.437375	0.43224	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.26067	1.97;1.76;1.97;2.58;2.56;1.97;1.97	5.48	5.48	0.80851	Extracellular ligand-binding receptor (1);	0.206078	0.49916	D	0.000127	T	0.44829	0.1312	L	0.50333	1.59	0.51767	D	0.999932	D;D;D;D;D;P	0.60575	0.988;0.988;0.985;0.988;0.985;0.936	P;P;P;P;P;P	0.61477	0.696;0.696;0.889;0.696;0.57;0.614	T	0.34527	-0.9825	10	0.87932	D	0	.	18.3214	0.90239	0.0:1.0:0.0:0.0	.	81;81;71;81;71;71	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	I	71;71;71;71;2;2;81;81	ENSP00000285900:T71I;ENSP00000427920:T71I;ENSP00000339343:T71I;ENSP00000427864:T2I;ENSP00000442108:T2I;ENSP00000428994:T81I;ENSP00000415569:T81I	ENSP00000285900:T71I	T	+	2	0	GRIA1	152853810	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.037000	0.70956	2.548000	0.85928	0.655000	0.94253	ACC	GRIA1-007	KNOWN	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373902.3		+	ENST00000518783.1	Missense_Mutation	SNP	5 : 152873617 - 152873617 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	367	14
PLA2G12A	81579	broad.mit.edu	37	4	110639872	110639872	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110639872C>T	ENST00000243501.5	-	2	519	c.252G>A	c.(250-252)ccG>ccA	p.P84P	PLA2G12A_ENST00000502283.1_Silent_p.P84P|PLA2G12A_ENST00000502772.1_5'UTR	NM_030821.4	NP_110448.2	Q9BZM1	PG12A_HUMAN	phospholipase A2, group XIIA	84					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity			kidney(1)|lung(1)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000268)		CACATCCATTCGGTGGGGAGG	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	61	62			NA	NA	4		NA											NA				110639872		2203	4300	6503	SO:0001819	synonymous_variant				CCDS3686.1	4q25	2010-11-24	2004-01-13	2004-01-14	ENSG00000123739	ENSG00000123739	81579	81579	3.1.1.4		18554	protein-coding gene	gene with protein product		611652	phospholipase A2, group XII	PLA2G12	NA	11031251	Standard		NM_030821	NA	Approved		uc003hzp.3	Q9BZM1	OTTHUMG00000131915	ENST00000243501.5:c.252G>A	4.37:g.110639872C>T		NA	Q9BZ89	37	CCDS3686.1																																																																																			PLA2G12A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254868.3		-	ENST00000243501.5	Silent	SNP	4 : 110639872 - 110639872 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	228	41
SIGLEC7	27036	broad.mit.edu	37	19	51647836	51647836	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51647836A>G	ENST00000317643.6	+	2	676	c.607A>G	c.(607-609)Acc>Gcc	p.T203A	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	203	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CTCAGTGCTCACCCTCATCCC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	61	62			NA	NA	19		NA											NA				51647836		2203	4300	6503	SO:0001583	missense			AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995	27036	27036		Sialic acid binding Ig-like lectins, CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	10876	protein-coding gene	gene with protein product		604410	sialic acid binding Ig-like lectin 19, pseudogene, sialic acid binding Ig-like lectin, pseudogene 2	SIGLEC19P, SIGLECP2	NA	10567377	Standard	NM_016543	NM_001277201	NA	Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.607A>G	19.37:g.51647836A>G	ENSP00000323328:p.Thr203Ala	NA	Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	37	CCDS12826.1	.	.	.	.	.	.	.	.	.	.	.	10.30	1.311986	0.23821	.	.	ENSG00000168995	ENST00000317643	T	0.03635	3.86	2.9	1.73	0.24493	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.208382	0.24542	N	0.037621	T	0.09468	0.0233	M	0.88979	2.995	0.21220	N	0.999752	P	0.43352	0.804	P	0.47134	0.539	T	0.05386	-1.0888	10	0.42905	T	0.14	.	4.7918	0.13252	0.7228:0.0:0.0:0.2772	.	203	Q9Y286	SIGL7_HUMAN	A	203	ENSP00000323328:T203A	ENSP00000323328:T203A	T	+	1	0	SIGLEC7	56339648	0.006000	0.16342	0.444000	0.26895	0.012000	0.07955	0.237000	0.17985	1.360000	0.45960	0.432000	0.28606	ACC	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464226.2		+	ENST00000317643.6	Missense_Mutation	SNP	19 : 51647836 - 51647836 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	501	39
PKHD1L1	93035	broad.mit.edu	37	8	110509385	110509385	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110509385G>T	ENST00000378402.5	+	65	10587	c.10483G>T	c.(10483-10485)Gag>Tag	p.E3495*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3495					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GCAGACCACAGAGAGTGTGCA	0.328		NA								HNSCC(38;0.096)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	111	113			NA	NA	8		NA											NA				110509385		1840	4097	5937	SO:0001587	stop_gained			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038	93035	93035			20313	protein-coding gene	gene with protein product		607843			NA	12620974	Standard	NM_177531	NM_177531	NA	Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.10483G>T	8.37:g.110509385G>T	ENSP00000367655:p.Glu3495*	NA	Q567P2|Q9UF27	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	37	6.553308	0.97658	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	.	.	.	6.02	6.02	0.97574	.	0.109197	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	18.0311	0.89285	0.0:0.0:1.0:0.0	.	.	.	.	X	3495;423	.	ENSP00000367655:E3495X	E	+	1	0	PKHD1L1	110578561	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	4.411000	0.59781	2.857000	0.98124	0.650000	0.86243	GAG	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381017.1		+	ENST00000378402.5	Nonsense_Mutation	SNP	8 : 110509385 - 110509385 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	438	63
EBAG9	9166	broad.mit.edu	37	8	110569174	110569174	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110569174A>T	ENST00000531677.1	+	4	332	c.332A>T	c.(331-333)aAg>aTg	p.K111M	EBAG9_ENST00000529502.1_3'UTR|EBAG9_ENST00000395785.2_Missense_Mutation_p.K111M|EBAG9_ENST00000337573.5_Missense_Mutation_p.K111M			O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	111					apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			ATTGTTATTAAGAAGAGAGAA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	66	67			NA	NA	8		NA											NA				110569174		2202	4299	6501	SO:0001583	missense			AB007619	CCDS6313.1	8q23	2013-03-07			ENSG00000147654	ENSG00000147654	9166	9166			3123	protein-coding gene	gene with protein product		605772			NA		Standard	NM_004215	NM_004215	NA	Approved	EB9, RCAS1	uc003ynf.3	O00559	OTTHUMG00000165346	ENST00000531677.1:c.332A>T	8.37:g.110569174A>T	ENSP00000432082:p.Lys111Met	NA	Q6IB20|Q9BS76	37	CCDS6313.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.422701	0.83559	.	.	ENSG00000147654	ENST00000395785;ENST00000529931;ENST00000337573;ENST00000530629;ENST00000531677	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.65893	0.2735	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.65874	0.939	T	0.69258	-0.5192	9	0.87932	D	0	-3.5603	15.4632	0.75377	1.0:0.0:0.0:0.0	.	111	O00559	RCAS1_HUMAN	M	111;14;111;111;111	.	ENSP00000337675:K111M	K	+	2	0	EBAG9	110638350	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.618000	0.90932	2.307000	0.77673	0.528000	0.53228	AAG	EBAG9-008	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385488.1		+	ENST00000531677.1	Missense_Mutation	SNP	8 : 110569174 - 110569174 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	130	13
AHNAK	79026	broad.mit.edu	37	11	62299103	62299103	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62299103A>G	ENST00000378024.4	-	5	3060	c.2786T>C	c.(2785-2787)cTg>cCg	p.L929P	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	929					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGGGCCCTTCAGCTTTCCTTC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	144	140			NA	NA	11		NA											NA				62299103		2202	4299	6501	SO:0001583	missense			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942	79026	79026			347	protein-coding gene	gene with protein product	desmoyokin	103390	AHNAK nucleoprotein (desmoyokin)		NA	7987395, 12153988	Standard	NM_024060	NM_024060	NA	Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.2786T>C	11.37:g.62299103A>G	ENSP00000367263:p.Leu929Pro	NA		37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	a	15.82	2.945953	0.53079	.	.	ENSG00000124942	ENST00000378024	T	0.01034	5.42	4.78	4.78	0.61160	.	0.427685	0.20173	N	0.097700	T	0.07052	0.0179	M	0.89601	3.045	0.32021	N	0.600752	D	0.89917	1.0	D	0.91635	0.999	T	0.07385	-1.0775	10	0.33940	T	0.23	-6.898	14.2733	0.66164	1.0:0.0:0.0:0.0	.	929	Q09666	AHNK_HUMAN	P	929	ENSP00000367263:L929P	ENSP00000367263:L929P	L	-	2	0	AHNAK	62055679	0.042000	0.20092	0.955000	0.39395	0.913000	0.54294	3.328000	0.52052	1.910000	0.55303	0.374000	0.22700	CTG	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395572.1		-	ENST00000378024.4	Missense_Mutation	SNP	11 : 62299103 - 62299103 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1266	197
TLE2	7089	broad.mit.edu	37	19	3011123	3011123	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3011123G>T	ENST00000262953.6	-	12	1171	c.909C>A	c.(907-909)tcC>tcA	p.S303S	TLE2_ENST00000443826.3_Silent_p.S181S|TLE2_ENST00000455444.2_Silent_p.S181S|TLE2_ENST00000426948.2_Silent_p.S317S|TLE2_ENST00000591529.1_Silent_p.S317S|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000590536.1_Silent_p.S304S|TLE2_ENST00000447365.2_Missense_Mutation_p.P12H	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	303	Pro/Ser-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		AGGAGTCACAGGATTTGGAGG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	28	26			NA	NA	19		NA											NA				3011123		2082	4214	6296	SO:0001819	synonymous_variant			M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07				7089	7089		WD repeat domain containing	11838	protein-coding gene	gene with protein product	enhancer of split groucho 2	601041	transducin-like enhancer of split 2, homolog of Drosophila E(sp1), transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)		NA	8808280	Standard	NM_003260	NM_003260	NA	Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.909C>A	19.37:g.3011123G>T		NA	Q8WVY0|Q9Y6S0	37	CCDS45911.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.527215	0.27299	.	.	ENSG00000065717	ENST00000447365	T	0.59906	0.23	4.58	3.51	0.40186	.	.	.	.	.	T	0.47948	0.1473	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45963	-0.9225	8	0.59425	D	0.04	2.597	9.9184	0.41448	0.0:0.0:0.6161:0.3839	.	12	B4DE62	.	H	12	ENSP00000406523:P12H	ENSP00000406523:P12H	P	-	2	0	TLE2	2962123	0.267000	0.24122	0.998000	0.56505	0.491000	0.33493	0.216000	0.17585	0.990000	0.38787	0.561000	0.74099	CCT	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452194.2		-	ENST00000262953.6	Silent	SNP	19 : 3011123 - 3011123 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	157	26
TCF4	6925	broad.mit.edu	37	18	53018198	53018198	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:53018198G>T	ENST00000561992.1	-	3	414	c.16C>A	c.(16-18)Cca>Aca	p.P6T	TCF4_ENST00000567880.1_Intron|TCF4_ENST00000543082.1_Missense_Mutation_p.P94T|TCF4_ENST00000566279.1_Intron|TCF4_ENST00000564403.2_Missense_Mutation_p.P136T|TCF4_ENST00000354452.3_Missense_Mutation_p.P136T|TCF4_ENST00000544241.2_Missense_Mutation_p.P65T|TCF4_ENST00000540999.1_Missense_Mutation_p.P112T|TCF4_ENST00000537578.1_Missense_Mutation_p.P112T|TCF4_ENST00000570177.2_Missense_Mutation_p.P6T|TCF4_ENST00000564999.1_Missense_Mutation_p.P136T|TCF4_ENST00000565018.2_Missense_Mutation_p.P136T|TCF4_ENST00000566286.1_Missense_Mutation_p.P134T|TCF4_ENST00000564228.1_Missense_Mutation_p.P65T|TCF4_ENST00000537856.3_Missense_Mutation_p.P6T|TCF4_ENST00000356073.4_Missense_Mutation_p.P136T|TCF4_ENST00000568673.1_Missense_Mutation_p.P112T|TCF4_ENST00000568740.1_Missense_Mutation_p.P111T|TCF4_ENST00000398339.1_Missense_Mutation_p.P238T	NM_001243233.1	NP_001230162.1	P15884	ITF2_HUMAN	transcription factor 4	136	Essential for MYOD1 inhibition (By similarity).				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AGGGTTCCTGGGTTGCCCATA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	104	106			NA	NA	18		NA											NA				53018198		2203	4300	6503	SO:0001583	missense			M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628	6925	6925		Basic helix-loop-helix proteins	11634	protein-coding gene	gene with protein product		602272			NA	9302263, 2308860	Standard	NM_003199	NM_001083962	NA	Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000561992.1:c.16C>A	18.37:g.53018198G>T	ENSP00000455179:p.Pro6Thr	NA	B4DT37|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	37	CCDS58626.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.271410	0.40194	.	.	ENSG00000196628	ENST00000354452;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06	5.57	5.57	0.84162	.	0.151693	0.46145	D	0.000317	T	0.56337	0.1978	L	0.39245	1.2	0.32176	N	0.58106	B;B;B;B;B;B;B	0.25850	0.058;0.0;0.058;0.001;0.019;0.136;0.136	B;B;B;B;B;B;B	0.30782	0.076;0.002;0.102;0.0;0.015;0.076;0.12	T	0.65541	-0.6143	10	0.72032	D	0.01	-26.7506	13.6319	0.62200	0.0:0.0:0.8448:0.1552	.	112;136;112;238;136;94;65	B7Z5M6;G0LNT9;B7Z6Y1;E9PH57;P15884;B3KUC0;B3KT62	.;.;.;.;ITF2_HUMAN;.;.	T	136;136;94;112;112;65;6;238	ENSP00000346440:P136T;ENSP00000348374:P136T;ENSP00000439656:P94T;ENSP00000445202:P112T;ENSP00000440731:P112T;ENSP00000441562:P65T;ENSP00000439827:P6T;ENSP00000381382:P238T	ENSP00000346440:P136T	P	-	1	0	TCF4	51169196	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.858000	0.69532	2.781000	0.95711	0.655000	0.94253	CCA	TCF4-010	PUTATIVE	alternative_5_UTR|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421639.1		-	ENST00000561992.1	Missense_Mutation	SNP	18 : 53018198 - 53018198 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	490	82
INCA1	388324	broad.mit.edu	37	17	4893489	4893489	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4893489C>T	ENST00000355025.3	-	4	557	c.116G>A	c.(115-117)cGt>cAt	p.R39H	INCA1_ENST00000574617.1_Missense_Mutation_p.R39H|INCA1_ENST00000575780.1_Missense_Mutation_p.R39H|INCA1_ENST00000576820.1_Missense_Mutation_p.R39H|INCA1_ENST00000396829.2_Missense_Mutation_p.R39H	NM_213726.2	NP_998891.2	Q0VD86	INCA1_HUMAN	inhibitor of CDK, cyclin A1 interacting protein 1	39						nucleus				upper_aerodigestive_tract(1)	1						ATCTCCATAACGCTGGGGCAT	0.527		NA											c	0	0	NA	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0	0	EXOME	NA	NA	9e-04	SNP								NA				0													96	80	86			NA	NA	17		NA											NA				4893489		2203	4300	6503	SO:0001583	missense			AY601906, AAT09152	CCDS11064.1, CCDS54074.1	17p13.2	2010-03-19	2009-04-20		ENSG00000196388	ENSG00000196388	388324	388324			32224	protein-coding gene	gene with protein product					NA	15159402, 18756329	Standard	NM_213726	NM_213726	NA	Approved		uc002gak.3	Q0VD86		ENST00000355025.3:c.116G>A	17.37:g.4893489C>T	ENSP00000347129:p.Arg39His	NA	Q6J273|Q6PKN9	37	CCDS11064.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	c	16.04	3.010900	0.54361	.	.	ENSG00000196388	ENST00000396829;ENST00000355025	.	.	.	4.37	-1.72	0.08107	.	0.578202	0.15947	N	0.236916	T	0.14874	0.0359	N	0.11560	0.145	0.23138	N	0.998238	B;B	0.15141	0.005;0.012	B;B	0.10450	0.003;0.005	T	0.13335	-1.0513	9	0.33141	T	0.24	-0.2663	4.4816	0.11769	0.0:0.3416:0.1808:0.4776	.	39;39	Q0VD86-2;Q0VD86	.;INCA1_HUMAN	H	39	.	ENSP00000347129:R39H	R	-	2	0	INCA1	4834213	0.000000	0.05858	0.802000	0.32245	0.882000	0.50991	-1.769000	0.01792	-0.232000	0.09811	-0.147000	0.13772	CGT	INCA1-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438883.1		-	ENST00000355025.3	Missense_Mutation	SNP	17 : 4893489 - 4893489 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	68
TMCC3	57458	broad.mit.edu	37	12	94976125	94976125	+	Missense_Mutation	SNP	C	C	T	rs141857063	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:94976125C>T	ENST00000261226.4	-	2	399	c.268G>A	c.(268-270)Gat>Aat	p.D90N	TMCC3_ENST00000551457.1_Missense_Mutation_p.D59N	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	90						integral to membrane		p.D90Y(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						ACATTCCCATCGCGCGATGTT	0.453		NA											C	4	0.0018	0.002	NA	2184	0.01	0.9994	,	,	NA	0.0023	NA	NA	NA	0.0023	0.7921	LOWCOV,EXOME	NA	NA	0.0063	SNP								NA				1	Substitution - Missense(1)	breast(1)											199	185	190			NA	NA	12		NA											NA				94976125		2203	4300	6503	SO:0001583	missense			AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704	57458	57458		Transmembrane and coiled-coil domain containing	29199	protein-coding gene	gene with protein product			transmembrane and coiled-coil domains 3		NA	10574461	Standard	NM_020698	XM_005269039	NA	Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.268G>A	12.37:g.94976125C>T	ENSP00000261226:p.Asp90Asn	NA	Q8IWB2	37	CCDS31877.1	4	0.0018315018315018315	1	0.0020325203252032522	0	0.0	3	0.005244755244755245	0	0.0	C	27.0	4.793782	0.90453	.	.	ENSG00000057704	ENST00000261226;ENST00000551457;ENST00000548918	T;T;T	0.60171	0.21;0.21;0.21	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.70962	0.3284	M	0.82823	2.61	0.80722	D	1	D	0.69078	0.997	P	0.60541	0.876	T	0.76035	-0.3106	10	0.52906	T	0.07	-25.4124	20.0555	0.97650	0.0:1.0:0.0:0.0	.	90	Q9ULS5	TMCC3_HUMAN	N	90;59;59	ENSP00000261226:D90N;ENSP00000449888:D59N;ENSP00000450078:D59N	ENSP00000261226:D90N	D	-	1	0	TMCC3	93500256	1.000000	0.71417	0.915000	0.36163	0.932000	0.56968	5.900000	0.69853	2.821000	0.97095	0.485000	0.47835	GAT	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408113.1		-	ENST00000261226.4	Missense_Mutation	SNP	12 : 94976125 - 94976125 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	909	166
MYOG	4656	broad.mit.edu	37	1	203054860	203054860	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203054860G>A	ENST00000241651.4	-	1	304	c.230C>T	c.(229-231)tCg>tTg	p.S77L		NM_002479.5	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	77					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						CACGGACACCGACTTCCTCTT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	66	64			NA	NA	1		NA											NA				203054860		2203	4300	6503	SO:0001583	missense			BC053899	CCDS1433.1	1q31-q41	2013-05-21			ENSG00000122180	ENSG00000122180	4656	4656		Basic helix-loop-helix proteins	7612	protein-coding gene	gene with protein product		159980		MYF4	NA	10329008	Standard	NM_002479	NM_002479	NA	Approved	bHLHc3	uc001gzd.4	P15173	OTTHUMG00000042127	ENST00000241651.4:c.230C>T	1.37:g.203054860G>A	ENSP00000241651:p.Ser77Leu	NA	Q53XW6	37	CCDS1433.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724384	0.68959	.	.	ENSG00000122180	ENST00000241651	T	0.80033	-1.33	5.69	5.69	0.88448	Myogenic basic muscle-specific protein (2);Helix-loop-helix DNA-binding (1);	0.102169	0.64402	D	0.000003	T	0.78997	0.4372	L	0.57536	1.79	0.46298	D	0.998971	P	0.44429	0.835	B	0.40066	0.318	T	0.82283	-0.0534	10	0.87932	D	0	-18.011	16.1007	0.81169	0.0:0.1337:0.8663:0.0	.	77	P15173	MYOG_HUMAN	L	77	ENSP00000241651:S77L	ENSP00000241651:S77L	S	-	2	0	MYOG	201321483	1.000000	0.71417	0.987000	0.45799	0.836000	0.47400	7.896000	0.87350	2.683000	0.91414	0.563000	0.77884	TCG	MYOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000100279.1		-	ENST00000241651.4	Missense_Mutation	SNP	1 : 203054860 - 203054860 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	951	259
SIMC1	375484	broad.mit.edu	37	5	175772213	175772213	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175772213G>A	ENST00000443967.1	+	12	2791	c.2384G>A	c.(2383-2385)cGa>cAa	p.R795Q	SIMC1_ENST00000430704.2_Missense_Mutation_p.R380Q|SIMC1_ENST00000332772.4_Missense_Mutation_p.R256Q|SIMC1_ENST00000341199.6_Missense_Mutation_p.R380Q					SUMO-interacting motifs containing 1	NA											NA						GTGATCGACCGAAAGGACTTA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	106	106			NA	NA	5		NA											NA				175772213		2203	4300	6503	SO:0001583	missense			BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085	375484	375484			24779	protein-coding gene	gene with protein product	oocyte maturation associated 1, platform element for inhibition of autolytic degradation		chromosome 5 open reading frame 25	C5orf25	NA	23086935, 23707407	Standard	NM_198567	NM_198567	NA	Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.2384G>A	5.37:g.175772213G>A	ENSP00000406571:p.Arg795Gln	NA		37		.	.	.	.	.	.	.	.	.	.	G	18.56	3.650695	0.67472	.	.	ENSG00000170085	ENST00000341199;ENST00000430704;ENST00000443967;ENST00000332772	T;T;T;T	0.39406	1.53;1.53;1.74;1.08	5.09	5.09	0.68999	.	0.185090	0.36234	N	0.002701	T	0.60663	0.2286	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.81914	0.986;0.995;0.99	T	0.62388	-0.6865	10	0.72032	D	0.01	-16.2843	16.8521	0.85996	0.0:0.0:1.0:0.0	.	256;380;795	Q8NDZ2-4;Q8NDZ2-3;Q8NDZ2	.;.;CE025_HUMAN	Q	380;380;795;256	ENSP00000342075:R380Q;ENSP00000409287:R380Q;ENSP00000406571:R795Q;ENSP00000331311:R256Q	ENSP00000331311:R256Q	R	+	2	0	C5orf25	175704819	0.954000	0.32549	0.542000	0.28115	0.483000	0.33249	5.806000	0.69150	2.646000	0.89796	0.557000	0.71058	CGA	SIMC1-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000253155.2		+	ENST00000443967.1	Missense_Mutation	SNP	5 : 175772213 - 175772213 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	533	201
RNF31	55072	broad.mit.edu	37	14	24619877	24619877	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24619877C>T	ENST00000324103.6	+	8	1588	c.1268C>T	c.(1267-1269)tCg>tTg	p.S423L	RNF31_ENST00000559275.1_Missense_Mutation_p.S272L|RNF31_ENST00000382687.3_Missense_Mutation_p.S272L	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	423	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		TTCTGCAACTCGAGCCCTGGC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	145	140			NA	NA	14		NA											NA				24619877		2009	4173	6182	SO:0001583	missense			AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098	55072	55072		RING-type (C3HC4) zinc fingers	16031	protein-coding gene	gene with protein product	HOIL-1-interacting protein	612487			NA	10422847	Standard	NM_017999	NM_017999	NA	Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.1268C>T	14.37:g.24619877C>T	ENSP00000315112:p.Ser423Leu	NA	Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	37	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412775	0.62511	.	.	ENSG00000092098	ENST00000324103;ENST00000382687	T;T	0.42131	0.98;0.98	5.87	4.99	0.66335	Zinc finger, RanBP2-type (2);	0.331771	0.28414	N	0.015430	T	0.45458	0.1343	L	0.52364	1.645	0.33845	D	0.631964	D;D;D	0.67145	0.969;0.992;0.996	B;P;P	0.51945	0.296;0.487;0.685	T	0.62525	-0.6836	10	0.72032	D	0.01	-2.5388	7.735	0.28808	0.1614:0.7565:0.0:0.0821	.	238;423;272	B3KV71;Q96EP0;Q96EP0-3	.;RNF31_HUMAN;.	L	423;272	ENSP00000315112:S423L;ENSP00000372134:S272L	ENSP00000315112:S423L	S	+	2	0	RNF31	23689717	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.307000	0.51888	1.489000	0.48450	0.655000	0.94253	TCG	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071921.3		+	ENST00000324103.6	Missense_Mutation	SNP	14 : 24619877 - 24619877 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	990	99
TNFRSF13B	23495	broad.mit.edu	37	17	16843683	16843683	+	Missense_Mutation	SNP	C	C	A	rs56248318		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16843683C>A	ENST00000261652.2	-	4	600	c.588G>T	c.(586-588)caG>caT	p.Q196H	TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.Q150H|TNFRSF13B_ENST00000437538.2_Missense_Mutation_p.Q150H	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	196					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						TTGAGCGGGGCTGGCAGGAGC	0.647		NA							IgA Deficiency, Selective					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	92	91			NA	NA	17		NA											NA				16843683		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	IGAD1, IGAD2	AF023614	CCDS11181.1	17p11.2	2014-09-17			ENSG00000240505	ENSG00000240505	23495	23495		Tumor necrosis factor receptor superfamily, CD molecules	18153	protein-coding gene	gene with protein product		604907			NA	9311921	Standard		NM_012452	NA	Approved	TACI, CD267	uc002gqs.1	O14836	OTTHUMG00000059262	ENST00000261652.2:c.588G>T	17.37:g.16843683C>A	ENSP00000261652:p.Gln196His	NA	B2R8B0|Q32LX4|Q7Z6F5	37	CCDS11181.1	.	.	.	.	.	.	.	.	.	.	c	9.113	1.007064	0.19199	.	.	ENSG00000240505	ENST00000437538;ENST00000261652	D;D	0.94092	-3.35;-3.33	3.43	3.43	0.39272	.	0.131984	0.34531	N	0.003899	D	0.94584	0.8255	M	0.66939	2.045	0.30740	N	0.746256	D;D	0.71674	0.998;0.997	P;P	0.61477	0.889;0.778	D	0.91783	0.5437	10	0.40728	T	0.16	-6.7321	10.6958	0.45899	0.0:1.0:0.0:0.0	rs56248318	150;196	O14836-2;O14836	.;TR13B_HUMAN	H	150;196	ENSP00000413453:Q150H;ENSP00000261652:Q196H	ENSP00000261652:Q196H	Q	-	3	2	TNFRSF13B	16784408	0.931000	0.31567	0.330000	0.25442	0.016000	0.09150	1.717000	0.37991	1.628000	0.50416	0.558000	0.71614	CAG	TNFRSF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131474.2		-	ENST00000261652.2	Missense_Mutation	SNP	17 : 16843683 - 16843683 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	681	113
SEMA3D	223117	broad.mit.edu	37	7	84628811	84628811	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:84628811C>T	ENST00000284136.6	-	17	2322	c.2279G>A	c.(2278-2280)cGa>cAa	p.R760Q	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	760	Arg/Lys-rich (basic).				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.R760Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TCTTCGATTTCGTTTCTTCTT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(63;442 1191 17318 29975 31528)							NA				1	Substitution - Missense(1)	large_intestine(1)											180	146	158			NA	NA	7		NA											NA				84628811		2203	4300	6503	SO:0001583	missense			BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993	223117	223117		Semaphorins, Immunoglobulin superfamily / V-set domain containing	10726	protein-coding gene	gene with protein product		609907			NA		Standard	NM_152754	NM_152754	NA	Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.2279G>A	7.37:g.84628811C>T	ENSP00000284136:p.Arg760Gln	NA	A6NK46|Q6UW77|Q8NCQ1	37	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155987	0.78114	.	.	ENSG00000153993	ENST00000284136	T	0.36699	1.24	5.93	5.93	0.95920	.	0.114181	0.56097	D	0.000021	T	0.63070	0.2480	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62581	-0.6824	10	0.66056	D	0.02	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	760	O95025	SEM3D_HUMAN	Q	760	ENSP00000284136:R760Q	ENSP00000284136:R760Q	R	-	2	0	SEMA3D	84466747	1.000000	0.71417	0.980000	0.43619	0.271000	0.26615	7.224000	0.78042	2.814000	0.96858	0.655000	0.94253	CGA	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336084.2		-	ENST00000284136.6	Missense_Mutation	SNP	7 : 84628811 - 84628811 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	523	114
TMEM131	23505	broad.mit.edu	37	2	98430750	98430750	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98430750G>A	ENST00000186436.5	-	14	1622	c.1394C>T	c.(1393-1395)gCg>gTg	p.A465V		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	465						integral to membrane		p.A352V(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AATGAGGATCGCAAAACTGAA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											105	100	102			NA	NA	2		NA											NA				98430750		1893	4128	6021	SO:0001583	missense			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568	23505	23505			30366	protein-coding gene	gene with protein product		615659			NA	9039502, 10996388	Standard	XM_371542	NM_015348	NA	Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1394C>T	2.37:g.98430750G>A	ENSP00000186436:p.Ala465Val	NA		37	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	G	31	5.097924	0.94197	.	.	ENSG00000075568	ENST00000186436	T	0.33216	1.42	5.31	5.31	0.75309	.	0.053675	0.64402	D	0.000001	T	0.42063	0.1186	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	P	0.61070	0.883	T	0.32798	-0.9893	10	0.59425	D	0.04	-12.5872	19.3411	0.94342	0.0:0.0:1.0:0.0	.	465	Q92545	TM131_HUMAN	V	465	ENSP00000186436:A465V	ENSP00000186436:A465V	A	-	2	0	TMEM131	97797182	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.047000	0.93823	2.631000	0.89168	0.655000	0.94253	GCG	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329285.2		-	ENST00000186436.5	Missense_Mutation	SNP	2 : 98430750 - 98430750 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	63
ASTN1	460	broad.mit.edu	37	1	176992704	176992704	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176992704C>T	ENST00000367657.3	-	7	1464	c.1274G>A	c.(1273-1275)aGc>aAc	p.S425N	ASTN1_ENST00000367654.3_Missense_Mutation_p.S425N|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.S425N|ASTN1_ENST00000424564.2_Missense_Mutation_p.S425N			O14525	ASTN1_HUMAN	astrotactin 1	425					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GATGAAGCGGCTCCCTGCAGG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	37	37			NA	NA	1		NA											NA				176992704		2203	4300	6503	SO:0001583	missense			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092	460	460			773	protein-coding gene	gene with protein product		600904	astrotactin	ASTN	NA	9070947	Standard	NM_004319	NM_001286164	NA	Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367657.3:c.1274G>A	1.37:g.176992704C>T	ENSP00000356629:p.Ser425Asn	NA	O60799|Q5W0V7|Q5W0V8	37		.	.	.	.	.	.	.	.	.	.	C	16.80	3.221929	0.58560	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.21191	2.02;2.43;2.43;2.03	5.77	5.77	0.91146	.	0.181563	0.64402	D	0.000014	T	0.33556	0.0867	L	0.32530	0.975	0.50171	D	0.999858	D;D;P	0.63046	0.992;0.977;0.886	P;P;P	0.57009	0.811;0.709;0.461	T	0.02020	-1.1228	10	0.72032	D	0.01	-30.8582	19.5786	0.95455	0.0:1.0:0.0:0.0	.	425;425;425	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	N	425	ENSP00000356629:S425N;ENSP00000354536:S425N;ENSP00000356626:S425N;ENSP00000395041:S425N	ENSP00000354536:S425N	S	-	2	0	ASTN1	175259327	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.921000	0.63397	2.726000	0.93360	0.655000	0.94253	AGC	ASTN1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000084823.1		-	ENST00000367657.3	Missense_Mutation	SNP	1 : 176992704 - 176992704 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	156	16
TEX13B	56156	broad.mit.edu	37	X	107224738	107224738	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107224738C>T	ENST00000302917.1	-	3	603	c.511G>A	c.(511-513)Gcc>Acc	p.A171T		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	171										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						CCGGCAGTGGCCAGGCCTGGA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	72	68			NA	NA	X		NA											NA				107224738		2195	4276	6471	SO:0001583	missense			AF285598	CCDS14534.1	Xq23	2008-02-05	2007-03-13		ENSG00000170925	ENSG00000170925	NA	56156			11736	protein-coding gene	gene with protein product		300313	testis expressed sequence 13B		NA	11279525	Standard		NM_031273	NA	Approved	TSGA5, TGC3B	uc004enn.1	Q9BXU2	OTTHUMG00000022174	ENST00000302917.1:c.511G>A	X.37:g.107224738C>T	ENSP00000303777:p.Ala171Thr	NA	Q5JYF6	37	CCDS14534.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883802	0.33255	.	.	ENSG00000170925	ENST00000302917	.	.	.	3.37	2.5	0.30297	.	.	.	.	.	T	0.26774	0.0655	L	0.35854	1.095	0.09310	N	1	P	0.40970	0.734	B	0.39531	0.302	T	0.11665	-1.0578	8	0.52906	T	0.07	.	5.677	0.17753	0.0:0.8465:0.0:0.1535	.	171	Q9BXU2	TX13B_HUMAN	T	171	.	ENSP00000303777:A171T	A	-	1	0	TEX13B	107111394	0.028000	0.19301	0.003000	0.11579	0.024000	0.10985	1.307000	0.33516	0.792000	0.33850	0.415000	0.27848	GCC	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057857.1		-	ENST00000302917.1	Missense_Mutation	SNP	X : 107224738 - 107224738 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	920	139
CYP2A13	1553	broad.mit.edu	37	19	41596450	41596450	+	Missense_Mutation	SNP	C	C	T	rs144283445		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41596450C>T	ENST00000330436.3	+	4	635	c.635C>T	c.(634-636)aCg>aTg	p.T212M		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	212					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	TTCCAGTTCACGGCAACCTCC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	103	108			NA	NA	19		NA											NA				41596450		2203	4300	6503	SO:0001583	missense			U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838	1553	1553		Cytochrome P450s	2608	protein-coding gene	gene with protein product		608055	cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13		NA	7668294, 15128046	Standard	NM_000766	NM_000766	NA	Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.635C>T	19.37:g.41596450C>T	ENSP00000332679:p.Thr212Met	NA	Q53YR8|Q6R569|Q6R570|Q9H2X2	37	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	3.541	-0.093776	0.07053	.	.	ENSG00000197838	ENST00000330436	T	0.68331	-0.32	3.66	3.66	0.41972	.	1.565340	0.03511	U	0.219623	T	0.48352	0.1495	N	0.11870	0.19	0.09310	N	1	P	0.49307	0.922	B	0.39590	0.304	T	0.44802	-0.9304	10	0.18276	T	0.48	.	9.0369	0.36293	0.0:0.7731:0.2269:0.0	.	212	Q16696	CP2AD_HUMAN	M	212	ENSP00000332679:T212M	ENSP00000332679:T212M	T	+	2	0	CYP2A13	46288290	0.000000	0.05858	0.636000	0.29352	0.155000	0.21991	0.478000	0.22212	1.871000	0.54225	0.195000	0.17529	ACG	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463505.1		+	ENST00000330436.3	Missense_Mutation	SNP	19 : 41596450 - 41596450 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	483	79
UVRAG	7405	broad.mit.edu	37	11	75718637	75718637	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75718637A>G	ENST00000533454.1	+	0	431				UVRAG_ENST00000356136.3_Missense_Mutation_p.E324G|UVRAG_ENST00000528420.1_Missense_Mutation_p.E223G|UVRAG_ENST00000531818.1_5'UTR|UVRAG_ENST00000539288.1_5'UTR|UVRAG_ENST00000532130.1_5'UTR			Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	NA					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TTACTCTCTGAGCTTTCCTAC	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	112	113			NA	NA	11		NA											NA				75718637		2199	4293	6492	SO:0001623	5_prime_UTR_variant			X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382	7405	7405			12640	protein-coding gene	gene with protein product	beclin 1 binding protein	602493	UV radiation resistance associated gene		NA	9169138, 16799551, 18843052	Standard	NM_003369	NM_003369	NA	Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000533454.1:c.-322A>G	11.37:g.75718637A>G		NA	O00392	37		.	.	.	.	.	.	.	.	.	.	A	27.0	4.794272	0.90453	.	.	ENSG00000198382	ENST00000356136;ENST00000528420	T;T	0.37411	1.2;1.2	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.57021	0.2025	L	0.59912	1.85	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.58951	-0.7545	10	0.72032	D	0.01	-22.5946	15.1937	0.73067	1.0:0.0:0.0:0.0	.	324	Q9P2Y5	UVRAG_HUMAN	G	324;223	ENSP00000348455:E324G;ENSP00000436039:E223G	ENSP00000348455:E324G	E	+	2	0	UVRAG	75396285	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.491000	0.90468	2.367000	0.80283	0.528000	0.53228	GAG	UVRAG-005	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000383434.1		+	ENST00000533454.1	5'UTR	SNP	11 : 75718637 - 75718637 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	389	58
NRAS	4893	broad.mit.edu	37	1	115252229	115252229	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115252229G>A	ENST00000369535.4	-	4	664	c.411C>T	c.(409-411)taC>taT	p.Y137Y		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	137					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	Golgi membrane|plasma membrane	GTP binding|GTPase activity			NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGGAATCCCGTAACTCTTGG	0.448		50	Mis		melanoma, MM, AML, thyroid				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		L, E	0								G		1,4405	2.1+/-5.4	0,1,2202	229	177	194		411	-8.4	0.6	1		194	0,8600		0,0,4300	no	coding-synonymous	NRAS	NM_002524.4		0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077		137/190	115252229	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281	4893	4893			7989	protein-coding gene	gene with protein product		164790			NA		Standard	NM_002524	NM_002524	NA	Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.411C>T	1.37:g.115252229G>A		NA	Q14971|Q15104|Q15282	37	CCDS877.1																																																																																			NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033395.2		-	ENST00000369535.4	Silent	SNP	1 : 115252229 - 115252229 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	272	34
POLR1A	25885	broad.mit.edu	37	2	86310237	86310237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86310237C>T	ENST00000263857.6	-	7	1163	c.785G>A	c.(784-786)cGc>cAc	p.R262H	POLR1A_ENST00000409681.1_Missense_Mutation_p.R262H			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	262					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						AAGGTGTTCGCGGGCACTGGT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	114	115			NA	NA	2		NA											NA				86310237		1889	4120	6009	SO:0001583	missense			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654	25885	25885		RNA polymerase subunits	17264	protein-coding gene	gene with protein product					NA	9236775	Standard	NM_015425	NM_015425	NA	Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.785G>A	2.37:g.86310237C>T	ENSP00000263857:p.Arg262His	NA	B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	37	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.450496	0.63290	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.68331	-0.32;-0.32	5.87	2.42	0.29668	RNA polymerase Rpb1, domain 1 (1);	0.328020	0.31660	N	0.007274	T	0.77370	0.4120	M	0.77616	2.38	0.37966	D	0.933144	D;D	0.76494	0.999;0.995	D;D	0.67900	0.954;0.924	T	0.76828	-0.2815	10	0.52906	T	0.07	-2.0575	8.4647	0.32949	0.0:0.4019:0.0:0.5981	.	262;262	B9ZVN9;O95602	.;RPA1_HUMAN	H	262	ENSP00000263857:R262H;ENSP00000386300:R262H	ENSP00000263857:R262H	R	-	2	0	POLR1A	86163748	0.591000	0.26824	0.563000	0.28383	0.945000	0.59286	0.222000	0.17699	0.151000	0.19162	0.655000	0.94253	CGC	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329830.2		-	ENST00000263857.6	Missense_Mutation	SNP	2 : 86310237 - 86310237 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	355	84
XIRP1	165904	broad.mit.edu	37	3	39230603	39230603	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39230603G>A	ENST00000340369.3	-	2	562	c.334C>T	c.(334-336)Cca>Tca	p.P112S	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.P112S	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	112							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TTGGCAGCTGGCCTCTCGTGT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	72	72			NA	NA	3		NA											NA				39230603		2203	4300	6503	SO:0001583	missense			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334	165904	165904			14301	protein-coding gene	gene with protein product		609777	cardiomyopathy associated 1	CMYA1	NA	12203715, 15454575	Standard	XM_093522	NM_001198621	NA	Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.334C>T	3.37:g.39230603G>A	ENSP00000343140:p.Pro112Ser	NA	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	37	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	4.223	0.040298	0.08148	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.04603	3.59;3.97	4.93	4.93	0.64822	.	0.160135	0.42420	U	0.000714	T	0.08133	0.0203	N	0.24115	0.695	0.80722	D	1	D;P	0.57899	0.981;0.48	P;B	0.52109	0.69;0.28	T	0.20273	-1.0280	10	0.66056	D	0.02	.	16.048	0.80734	0.0:0.0:1.0:0.0	.	112;112	Q702N8;Q702N8-2	XIRP1_HUMAN;.	S	112	ENSP00000379550:P112S;ENSP00000343140:P112S	ENSP00000343140:P112S	P	-	1	0	XIRP1	39205607	1.000000	0.71417	0.286000	0.24833	0.165000	0.22458	2.383000	0.44354	2.465000	0.83290	0.655000	0.94253	CCA	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254065.1		-	ENST00000340369.3	Missense_Mutation	SNP	3 : 39230603 - 39230603 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	449	90
ZKSCAN2	342357	broad.mit.edu	37	16	25251325	25251325	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25251325G>A	ENST00000328086.7	-	7	3519	c.2716C>T	c.(2716-2718)Cgg>Tgg	p.R906W		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	906					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TGTATTCTCCGATGTTCTCGA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	84	89			NA	NA	16		NA											NA				25251325		2197	4300	6497	SO:0001583	missense			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592	342357	342357		Zinc fingers, C2H2-type, -, -, -	25677	protein-coding gene	gene with protein product			zinc finger protein 694	ZNF694	NA		Standard	NM_001012981	NM_001012981	NA	Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.2716C>T	16.37:g.25251325G>A	ENSP00000331626:p.Arg906Trp	NA	A1L3B4|Q6ZN77	37	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.725457	0.30593	.	.	ENSG00000155592	ENST00000328086	T	0.18810	2.19	5.43	5.43	0.79202	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.438734	0.20673	N	0.087800	T	0.39937	0.1097	M	0.87682	2.9	0.26774	N	0.969735	D;D	0.67145	0.993;0.996	P;P	0.51101	0.545;0.659	T	0.47114	-0.9142	10	0.48119	T	0.1	-5.7995	12.3085	0.54915	0.0:0.1697:0.8303:0.0	.	702;906	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	W	906	ENSP00000331626:R906W	ENSP00000331626:R906W	R	-	1	2	ZKSCAN2	25158826	0.905000	0.30787	0.563000	0.28383	0.023000	0.10783	1.766000	0.38491	2.824000	0.97209	0.655000	0.94253	CGG	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000435739.1		-	ENST00000328086.7	Missense_Mutation	SNP	16 : 25251325 - 25251325 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	367	83
CCDC86	79080	broad.mit.edu	37	11	60617793	60617793	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60617793A>G	ENST00000227520.5	+	4	1132	c.1078A>G	c.(1078-1080)Atc>Gtc	p.I360V	RP11-804A23.4_ENST00000538705.1_RNA|CCDC86_ENST00000545580.1_Missense_Mutation_p.I104V	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	360					interspecies interaction between organisms	nucleus				endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						GGCAGCCAAGATCTGAGCTCA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	36	33			NA	NA	11		NA											NA				60617793		2203	4299	6502	SO:0001583	missense			AK025974	CCDS7993.1	11q12.2	2006-03-16			ENSG00000110104	ENSG00000110104	79080	79080			28359	protein-coding gene	gene with protein product		611293			NA		Standard	NM_024098	NM_024098	NA	Approved	MGC2574	uc001nqa.2	Q9H6F5	OTTHUMG00000167706	ENST00000227520.5:c.1078A>G	11.37:g.60617793A>G	ENSP00000227520:p.Ile360Val	NA		37	CCDS7993.1	.	.	.	.	.	.	.	.	.	.	A	6.718	0.501202	0.12822	.	.	ENSG00000110104	ENST00000227520;ENST00000545580	T	0.40225	1.04	4.66	-0.718	0.11205	.	0.837667	0.09890	N	0.742530	T	0.20455	0.0492	N	0.16307	0.4	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.30119	-0.9989	10	0.02654	T	1	.	8.2856	0.31926	0.4016:0.0:0.5984:0.0	.	360	Q9H6F5	CCD86_HUMAN	V	360;104	ENSP00000227520:I360V	ENSP00000227520:I360V	I	+	1	0	CCDC86	60374369	0.090000	0.21635	0.653000	0.29593	0.649000	0.38597	0.229000	0.17833	-0.207000	0.10187	0.459000	0.35465	ATC	CCDC86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395743.1		+	ENST00000227520.5	Missense_Mutation	SNP	11 : 60617793 - 60617793 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	363	11
XYLT1	64131	broad.mit.edu	37	16	17211831	17211831	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:17211831G>A	ENST00000261381.6	-	11	2313	c.2229C>T	c.(2227-2229)ggC>ggT	p.G743G		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	743					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCCAGTCAGTGCCGACCTGAA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	49	51			NA	NA	16		NA											NA				17211831		2197	4300	6497	SO:0001819	synonymous_variant			AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	64131	64131	2.4.2.26	Glucosaminyl (N-acetyl) transferase and xylosyltransferase family	15516	protein-coding gene	gene with protein product	protein xylosyltransferase 1	608124			NA	11099377	Standard	NM_022166	NM_022166	NA	Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2229C>T	16.37:g.17211831G>A		NA	Q9H1B6	37	CCDS10569.1																																																																																			XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252241.2		-	ENST00000261381.6	Silent	SNP	16 : 17211831 - 17211831 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	255	25
ERBB2	2064	broad.mit.edu	37	17	37868294	37868294	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37868294G>A	ENST00000584450.1	+	8	1230	c.1015G>A	c.(1015-1017)Gcc>Acc	p.A339T	ERBB2_ENST00000578199.1_Missense_Mutation_p.A309T|ERBB2_ENST00000540147.1_Missense_Mutation_p.A309T|ERBB2_ENST00000540042.1_Missense_Mutation_p.A309T|ERBB2_ENST00000406381.2_Missense_Mutation_p.A309T|ERBB2_ENST00000269571.5_Missense_Mutation_p.A339T|ERBB2_ENST00000541774.1_Missense_Mutation_p.A324T|ERBB2_ENST00000445658.2_Missense_Mutation_p.A63T|ERBB2_ENST00000584601.1_Missense_Mutation_p.A309T			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	339					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CAAGCCCTGTGCCCGAGGTAC	0.637		1	A, Mis, O		breast, ovarian, other tumour types, NSCLC, gastric					TCGA GBM(5;<1E-08)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		17	17q21.1	2064	v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)		E	0													108	84	92			NA	NA	17		NA											NA				37868294		2203	4300	6503	SO:0001583	missense			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736	2064	2064		CD molecules	3430	protein-coding gene	gene with protein product	neuro/glioblastoma derived oncogene homolog	164870	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)	NGL	NA		Standard		XM_005257140	NA	Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000584450.1:c.1015G>A	17.37:g.37868294G>A	ENSP00000463714:p.Ala339Thr	NA	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4	37		.	.	.	.	.	.	.	.	.	.	G	15.53	2.859575	0.51376	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147;ENST00000540042	D;D;T;D;D;D	0.84070	-1.8;-1.8;0.98;-1.8;-1.8;-1.8	5.3	4.3	0.51218	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	T	0.76550	0.4003	L	0.29908	0.895	0.42433	D	0.992688	B;B;B;B;B	0.33528	0.019;0.057;0.057;0.024;0.416	B;B;B;B;B	0.38712	0.005;0.015;0.014;0.02;0.28	T	0.78089	-0.2340	9	0.72032	D	0.01	.	11.4994	0.50428	0.0:0.2466:0.7534:0.0	.	63;309;324;339;339	B4DTR1;F5H1T4;P04626-4;P04626;Q9UK79	.;.;.;ERBB2_HUMAN;.	T	309;324;63;339;309;309	ENSP00000385185:A309T;ENSP00000446466:A324T;ENSP00000404047:A63T;ENSP00000269571:A339T;ENSP00000443562:A309T;ENSP00000446382:A309T	ENSP00000269571:A339T	A	+	1	0	ERBB2	35121820	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.770000	0.55310	2.766000	0.95052	0.491000	0.48974	GCC	ERBB2-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000445618.1		+	ENST00000584450.1	Missense_Mutation	SNP	17 : 37868294 - 37868294 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	583	57
LYG2	254773	broad.mit.edu	37	2	99858877	99858877	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99858877C>T	ENST00000409238.1	-	5	609	c.589G>A	c.(589-591)Gtc>Atc	p.V197I	LYG2_ENST00000333017.2_Missense_Mutation_p.V197I|LYG2_ENST00000423800.1_3'UTR			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	197					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						ATATCATTGACGAAGTCATTG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ILE/VAL	0,4406		0,0,2203	148	140	143		589	1.1	0	2		143	1,8599	1.2+/-3.3	0,1,4299	no	missense	LYG2	NM_175735.3	29	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	possibly-damaging	197/213	99858877	1,13005	2203	4300	6503	SO:0001583	missense			AF323919	CCDS2042.1	2q11.2	2008-02-05			ENSG00000185674	ENSG00000185674	254773	254773			29615	protein-coding gene	gene with protein product					NA	8889548, 12574869	Standard	NM_175735	NM_175735	NA	Approved	LYGH	uc002szw.1	Q86SG7	OTTHUMG00000130643	ENST00000409238.1:c.589G>A	2.37:g.99858877C>T	ENSP00000386939:p.Val197Ile	NA	Q53RW0	37	CCDS2042.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.534530	0.27475	0.0	1.16E-4	ENSG00000185674	ENST00000409238;ENST00000333017	.	.	.	5.22	1.12	0.20585	Lysozyme-like domain (1);	0.831283	0.10545	N	0.662243	T	0.35189	0.0923	M	0.68317	2.08	0.09310	N	1	B	0.21147	0.052	B	0.11329	0.006	T	0.31166	-0.9953	8	.	.	.	-11.8698	3.2272	0.06736	0.1853:0.513:0.0:0.3017	.	197	Q86SG7	LYG2_HUMAN	I	197	.	.	V	-	1	0	LYG2	99225309	0.039000	0.19947	0.001000	0.08648	0.521000	0.34408	0.511000	0.22739	0.353000	0.24079	0.563000	0.77884	GTC	LYG2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330307.1		-	ENST00000409238.1	Missense_Mutation	SNP	2 : 99858877 - 99858877 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	833	143
CDC42BPA	8476	broad.mit.edu	37	1	227216862	227216862	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227216862G>A	ENST00000366769.3	-	29	5114	c.3823C>T	c.(3823-3825)Cgt>Tgt	p.R1275C	CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R1255C|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R1288C|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R1275C|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R1194C|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R1247C|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R1310C	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	1288	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CGTACATGACGATTTCGTCCT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	51	52			NA	NA	1		NA											NA				227216862		2203	4300	6503	SO:0001583	missense			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776	8476	8476			1737	protein-coding gene	gene with protein product	myotonic dystrophy kinase-related Cdc42-binding kinase	603412	CDC42-binding protein kinase alpha (DMPK-like)		NA		Standard	NM_014826	NM_003607	NA	Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.3823C>T	1.37:g.227216862G>A	ENSP00000355731:p.Arg1275Cys	NA	O75039|Q59GZ1|Q5H9N9|Q5T797|Q5VT26|Q5VT27|Q86XX2|Q86XX3|Q99646	37	CCDS1558.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.2|27.2	4.809480|4.809480	0.90707|0.90707	.|.	.|.	ENSG00000143776|ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765|ENST00000448940;ENST00000442054;ENST00000429440;ENST00000441725	T;T;T;T;T;T;T|.	0.05580|.	3.42;3.42;3.42;3.42;3.42;3.42;3.42|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.047547|.	0.85682|.	D|.	0.000000|.	T|T	0.78227|0.78227	0.4250|0.4250	M|M	0.78456|0.78456	2.415|2.415	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D|.	0.72982|.	0.949;0.972;0.977;0.977;0.947;0.979;0.979;0.969|.	T|T	0.77988|0.77988	-0.2380|-0.2380	10|5	0.87932|.	D|.	0|.	.|.	19.3729|19.3729	0.94495|0.94495	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1255;1247;590;172;1194;1275;1310;477|.	F5H5N0;Q5VT25-4;E9PEF7;Q5T7A7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799|.	.;.;.;.;.;.;.;.|.	C|L	1275;1194;1275;1310;1247;590;1255;1288|477;603;172;499	ENSP00000355731:R1275C;ENSP00000355729:R1194C;ENSP00000335341:R1275C;ENSP00000355728:R1310C;ENSP00000355726:R1247C;ENSP00000443275:R1255C;ENSP00000355727:R1288C|.	ENSP00000335341:R1275C|.	R|S	-|-	1|2	0|0	CDC42BPA|CDC42BPA	225283485|225283485	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.830000|7.830000	0.86741|0.86741	2.665000|2.665000	0.90641|0.90641	0.585000|0.585000	0.79938|0.79938	CGT|TCG	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091696.1		-	ENST00000366769.3	Missense_Mutation	SNP	1 : 227216862 - 227216862 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	286	42
SLC26A3	1811	broad.mit.edu	37	7	107434255	107434255	+	Missense_Mutation	SNP	C	C	T	rs10280704	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107434255C>T	ENST00000340010.5	-	3	387	c.203G>A	c.(202-204)cGg>cAg	p.R68Q	SLC26A3_ENST00000422236.2_Missense_Mutation_p.R33Q	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	68			R -> Q (in dbSNP:rs10280704).		excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TTCTTTAAGCCGGTATGCTGG	0.413		NA											C	25	0.01	0.04	0.01	2184	NA	0.9997	,	,	NA	3e-04	NA	NA	NA	0.0116	0.9921	LOWCOV,EXOME	NA	NA	8e-04	SNP								NA				0								C	GLN/ARG	161,4245	109.1+/-147.4	3,155,2045	87	82	84		203	-1.9	0	7	dbSNP_119	84	0,8600		0,0,4300	yes	missense	SLC26A3	NM_000111.2	43	3,155,6345	TT,TC,CC	NA	0.0,3.6541,1.2379	benign	68/765	107434255	161,12845	2203	4300	6503	SO:0001583	missense			L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138	1811	1811		Solute carriers	3018	protein-coding gene	gene with protein product		126650	congenital chloride diarrhea, solute carrier family 26, member 3	DRA, CLD	NA	8020951, 11087667	Standard	NM_000111	NM_000111	NA	Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.203G>A	7.37:g.107434255C>T	ENSP00000345873:p.Arg68Gln	NA		37	CCDS5748.1	25	0.011446886446886446	22	0.044715447154471545	3	0.008287292817679558	0	0.0	0	0.0	C	9.539	1.112823	0.20795	0.036541	0.0	ENSG00000091138	ENST00000422236;ENST00000340010;ENST00000453332	D;D;D	0.91521	-2.86;-2.86;-2.86	5.63	-1.9	0.07665	.	0.790426	0.12345	N	0.477121	T	0.60143	0.2246	L	0.39467	1.215	0.09310	N	1	P;P	0.37083	0.468;0.581	B;B	0.34931	0.04;0.192	T	0.63274	-0.6674	10	0.36615	T	0.2	.	11.3351	0.49498	0.0:0.4682:0.0:0.5318	rs10280704;rs52833091;rs10280704	33;68	G5E9U3;P40879	.;S26A3_HUMAN	Q	33;68;68	ENSP00000415817:R33Q;ENSP00000345873:R68Q;ENSP00000395955:R68Q	ENSP00000345873:R68Q	R	-	2	0	SLC26A3	107221491	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.202000	0.09451	-0.413000	0.07507	0.491000	0.48974	CGG	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337190.1		-	ENST00000340010.5	Missense_Mutation	SNP	7 : 107434255 - 107434255 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	74
LIMK2	3985	broad.mit.edu	37	22	31654314	31654314	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31654314T>C	ENST00000331728.4	+	3	268	c.154T>C	c.(154-156)Tat>Cat	p.Y52H	LIMK2_ENST00000406516.1_5'UTR|LIMK2_ENST00000340552.4_Missense_Mutation_p.Y31H|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000333611.4_Missense_Mutation_p.Y31H	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	52	LIM zinc-binding 1.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CAACTGGTACTATGAGAAGGA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	161	165			NA	NA	22		NA											NA				31654314		2203	4300	6503	SO:0001583	missense			D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541	3985	3985			6614	protein-coding gene	gene with protein product		601988			NA	8537403, 10591208	Standard	NM_016733	NM_005569	NA	Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.154T>C	22.37:g.31654314T>C	ENSP00000332687:p.Tyr52His	NA	A8K6H5|Q7KZ80|Q96E10|Q99464|Q9UFU0	37	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.799831	0.90538	.	.	ENSG00000182541	ENST00000331728;ENST00000425203;ENST00000436394;ENST00000333611;ENST00000340552	D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4	5.66	5.66	0.87406	Zinc finger, LIM-type (4);	0.059305	0.64402	D	0.000001	D	0.93716	0.7992	M	0.70842	2.15	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.81914	0.992;0.995;0.992	D	0.94347	0.7576	10	0.87932	D	0	-19.7958	15.0663	0.71999	0.0:0.0:0.0:1.0	.	84;31;52	F5GY29;Q7L3H5;P53671	.;.;LIMK2_HUMAN	H	52;31;84;31;31	ENSP00000332687:Y52H;ENSP00000388422:Y31H;ENSP00000330470:Y31H;ENSP00000339916:Y31H	ENSP00000332687:Y52H	Y	+	1	0	LIMK2	29984314	1.000000	0.71417	0.996000	0.52242	0.898000	0.52572	7.698000	0.84413	2.154000	0.67381	0.379000	0.24179	TAT	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321911.1		+	ENST00000331728.4	Missense_Mutation	SNP	22 : 31654314 - 31654314 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	400	11
SKIV2L	6499	broad.mit.edu	37	6	31930244	31930244	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31930244C>A	ENST00000375394.2	+	11	1206	c.1093C>A	c.(1093-1095)Ctg>Atg	p.L365M	SKIV2L_ENST00000544581.1_Missense_Mutation_p.L172M	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	365	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CATCAAGGCCCTGAGCAACCA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	76	79			NA	NA	6		NA											NA				31930244		2203	4300	6503	SO:0001583	missense				CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351	6499	6499			10898	protein-coding gene	gene with protein product		600478	superkiller viralicidic activity 2 (S. cerevisiae homolog)-like	SKIV2	NA	7759100, 9799600	Standard		XM_006715168	NA	Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.1093C>A	6.37:g.31930244C>A	ENSP00000364543:p.Leu365Met	NA	O15005|Q12902|Q15476|Q5ST66	37	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753928	0.69648	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.47528	0.84;0.84	5.49	3.7	0.42460	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.64402	D	0.000004	T	0.76428	0.3986	H	0.99806	4.795	0.54753	D	0.999987	D	0.89917	1.0	D	0.97110	1.0	T	0.81581	-0.0867	10	0.87932	D	0	-11.2948	8.7438	0.34573	0.0:0.7618:0.0:0.2382	.	365	Q15477	SKIV2_HUMAN	M	365;207;172	ENSP00000364543:L365M;ENSP00000442645:L172M	ENSP00000364543:L365M	L	+	1	2	SKIV2L	32038223	0.423000	0.25482	0.999000	0.59377	0.996000	0.88848	1.010000	0.29898	0.678000	0.31325	0.655000	0.94253	CTG	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076264.3		+	ENST00000375394.2	Missense_Mutation	SNP	6 : 31930244 - 31930244 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	376	72
SLC22A3	6581	broad.mit.edu	37	6	160831795	160831795	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160831795C>T	ENST00000275300.2	+	5	1044	c.892C>T	c.(892-894)Cgg>Tgg	p.R298W	SLC22A3_ENST00000392145.1_Missense_Mutation_p.R298W	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	298						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		GCTGATTACTCGGAAGAAAGG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	80	80			NA	NA	6		NA											NA				160831795		2203	4300	6503	SO:0001583	missense			AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477	6581	6581		Solute carriers	10967	protein-coding gene	gene with protein product		604842	solute carrier family 22 (extraneuronal monoamine transporter), member 3		NA	9632645, 9933568	Standard	NM_021977	NM_021977	NA	Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.892C>T	6.37:g.160831795C>T	ENSP00000275300:p.Arg298Trp	NA	Q9UP02	37	CCDS5277.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834338	0.91036	.	.	ENSG00000146477	ENST00000275300;ENST00000392145	T;T	0.60424	0.19;0.19	5.77	5.77	0.91146	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.156570	0.45361	D	0.000380	T	0.71065	0.3296	M	0.69358	2.11	0.51233	D	0.999914	D	0.89917	1.0	D	0.79784	0.993	T	0.72940	-0.4139	10	0.87932	D	0	.	18.1733	0.89753	0.0:1.0:0.0:0.0	.	298	O75751	S22A3_HUMAN	W	298	ENSP00000275300:R298W;ENSP00000375989:R298W	ENSP00000275300:R298W	R	+	1	2	SLC22A3	160751785	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.719000	0.61937	2.745000	0.94114	0.650000	0.86243	CGG	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042953.1		+	ENST00000275300.2	Missense_Mutation	SNP	6 : 160831795 - 160831795 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	262	10
CEBPE	1053	broad.mit.edu	37	14	23587999	23587999	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23587999G>A	ENST00000206513.5	-	1	826	c.302C>T	c.(301-303)gCg>gTg	p.A101V		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	101						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		AGGCCCCAGCGCCTTCCTGTC	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(63;1230 1818 14565 22565)							NA				0													24	24	24			NA	NA	14		NA											NA				23587999		2203	4299	6502	SO:0001583	missense				CCDS9589.1	14q11.2	2014-09-17			ENSG00000092067	ENSG00000092067	1053	1053		basic leucine zipper proteins	1836	protein-coding gene	gene with protein product		600749			NA	8661101	Standard	NM_001805	NM_001805	NA	Approved	CRP1	uc001wiv.2	Q15744	OTTHUMG00000028719	ENST00000206513.5:c.302C>T	14.37:g.23587999G>A	ENSP00000206513:p.Ala101Val	NA	Q15745|Q8IYI2|Q99803	37	CCDS9589.1	.	.	.	.	.	.	.	.	.	.	G	9.634	1.137234	0.21123	.	.	ENSG00000092067	ENST00000206513	T	0.32023	1.47	4.51	2.57	0.30868	.	0.398028	0.23991	N	0.042566	T	0.13372	0.0324	N	0.08118	0	0.22253	N	0.999259	B	0.13145	0.007	B	0.08055	0.003	T	0.26189	-1.0110	10	0.12766	T	0.61	-9.1206	9.9605	0.41693	0.0907:0.1529:0.7564:0.0	.	101	Q15744	CEBPE_HUMAN	V	101	ENSP00000206513:A101V	ENSP00000206513:A101V	A	-	2	0	CEBPE	22657839	0.999000	0.42202	0.806000	0.32338	0.994000	0.84299	2.808000	0.47963	1.094000	0.41399	0.561000	0.74099	GCG	CEBPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071716.2		-	ENST00000206513.5	Missense_Mutation	SNP	14 : 23587999 - 23587999 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	217	39
SVIL	6840	broad.mit.edu	37	10	29779902	29779902	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:29779902G>A	ENST00000355867.4	-	22	4818	c.4066C>T	c.(4066-4068)Cgc>Tgc	p.R1356C	SVIL_ENST00000535393.1_Missense_Mutation_p.R270C|SVIL_ENST00000538146.1_Missense_Mutation_p.R148C|SVIL_ENST00000375398.2_Missense_Mutation_p.R1356C|SVIL_ENST00000375400.3_Missense_Mutation_p.R930C	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1356					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGAACCCGGCGCTTGGGCCTA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	41	41			NA	NA	10		NA											NA				29779902		2203	4300	6503	SO:0001583	missense			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321	6840	6840			11480	protein-coding gene	gene with protein product	archvillin	604126			NA	9382871	Standard		NM_003174	NA	Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.4066C>T	10.37:g.29779902G>A	ENSP00000348128:p.Arg1356Cys	NA	D3DRW9|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	37	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559153	0.65538	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994;ENST00000538146	T;T;T;T;T	0.37411	2.14;2.05;2.05;2.11;1.2	4.08	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.60792	0.2296	M	0.76574	2.34	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	T	0.67898	-0.5551	10	0.87932	D	0	-17.2551	16.543	0.84407	0.0:0.0:1.0:0.0	.	270;148;930;1356	F5H2Q5;F5GXV0;O95425-2;O95425	.;.;.;SVIL_HUMAN	C	930;1356;1356;270;310;148	ENSP00000364549:R930C;ENSP00000364547:R1356C;ENSP00000348128:R1356C;ENSP00000445472:R270C;ENSP00000440343:R148C	ENSP00000348128:R1356C	R	-	1	0	SVIL	29819908	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	6.267000	0.72546	2.110000	0.64415	0.485000	0.47835	CGC	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047395.1		-	ENST00000355867.4	Missense_Mutation	SNP	10 : 29779902 - 29779902 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	310	47
NDUFS7	374291	broad.mit.edu	37	19	1391124	1391124	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1391124G>A	ENST00000546283.1	+	7	716	c.415G>A	c.(415-417)Gac>Aac	p.D139N	NDUFS7_ENST00000313408.7_Missense_Mutation_p.D139N|NDUFS7_ENST00000539480.1_Missense_Mutation_p.D139N|NDUFS7_ENST00000233627.9_Missense_Mutation_p.D139N|NDUFS7_ENST00000540530.1_3'UTR|NDUFS7_ENST00000414651.2_Missense_Mutation_p.D169N			O75251	NDUS7_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	139					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		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)	NADH(DB00157)	CCAGGTCTACGACCAGATGCC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	25	24			NA	NA	19		NA											NA				1391124		2201	4299	6500	SO:0001583	missense			AF115969	CCDS12063.1	19p13	2011-07-04	2002-08-29		ENSG00000115286	ENSG00000115286	374291	374291		Mitochondrial respiratory chain complex / Complex I	7714	protein-coding gene	gene with protein product	complex I 20kDa subunit, NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial	601825	NADH dehydrogenase (ubiquinone) Fe-S protein 7 (20kD) (NADH-coenzyme Q reductase)		NA	8938450	Standard	NM_024407	NM_024407	NA	Approved	PSST, FLJ46880, FLJ45860, CI-20	uc002lse.4	O75251	OTTHUMG00000168077	ENST00000546283.1:c.415G>A	19.37:g.1391124G>A	ENSP00000440348:p.Asp139Asn	NA	Q2T9H7|Q9BV17	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.70|13.70	2.316424|2.316424	0.40996|0.40996	.|.	.|.	ENSG00000115286|ENSG00000115286	ENST00000546283;ENST00000233627;ENST00000539480;ENST00000313408;ENST00000414651;ENST00000538929;ENST00000538523;ENST00000540530;ENST00000535382|ENST00000450862	T;T;T;T;T|.	0.78481|.	-1.18;-0.99;-1.18;-1.18;-1.18|.	4.44|4.44	4.44|4.44	0.53790|0.53790	NADH:ubiquinone oxidoreductase-like, 20kDa subunit (2);|.	.|.	.|.	.|.	.|.	T|T	0.66396|0.66396	0.2785|0.2785	M|M	0.82630|0.82630	2.6|2.6	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.87578|.	0.988;0.994;0.998;0.991|.	T|T	0.65092|0.65092	-0.6252|-0.6252	9|6	0.87932|0.02654	D|T	0|1	.|.	10.4224|10.4224	0.44359|0.44359	0.0977:0.0:0.9023:0.0|0.0977:0.0:0.9023:0.0	.|.	139;146;139;139|.	F5H5N1;Q8NAS7;B3KRI2;O75251|.	.;.;.;NDUS7_HUMAN|.	N|Q	139;139;139;139;169;58;58;58;58|140	ENSP00000440348:D139N;ENSP00000233627:D139N;ENSP00000443273:D139N;ENSP00000364262:D139N;ENSP00000406630:D169N|.	ENSP00000233627:D139N|ENSP00000388398:R140Q	D|R	+|+	1|2	0|0	NDUFS7|NDUFS7	1342124|1342124	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.176000|0.176000	0.22953|0.22953	7.182000|7.182000	0.77689|0.77689	2.016000|2.016000	0.59253|0.59253	0.511000|0.511000	0.50034|0.50034	GAC|CGA	NDUFS7-001	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000397983.1		+	ENST00000546283.1	Missense_Mutation	SNP	19 : 1391124 - 1391124 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	150	35
TULP4	56995	broad.mit.edu	37	6	158923474	158923474	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158923474C>T	ENST00000367097.3	+	13	4136	c.2779C>T	c.(2779-2781)Ctc>Ttc	p.L927F	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	927					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CACCTTGAGGCTCACGGCCAC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	65	64			NA	NA	6		NA											NA				158923474		2203	4300	6503	SO:0001583	missense				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338	56995	56995		WD repeat domain containing	15530	protein-coding gene	gene with protein product					NA	11595174	Standard	NM_020245	NM_020245	NA	Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.2779C>T	6.37:g.158923474C>T	ENSP00000356064:p.Leu927Phe	NA	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	37	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999019	0.35226	.	.	ENSG00000130338	ENST00000367097	T	0.63255	-0.03	4.82	2.89	0.33648	.	0.189697	0.46758	D	0.000263	T	0.34571	0.0902	L	0.40543	1.245	0.80722	D	1	P	0.35383	0.498	B	0.33620	0.167	T	0.42050	-0.9474	10	0.87932	D	0	-24.6158	8.4255	0.32727	0.3675:0.4241:0.2084:0.0	.	927	Q9NRJ4	TULP4_HUMAN	F	927	ENSP00000356064:L927F	ENSP00000356064:L927F	L	+	1	0	TULP4	158843462	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.231000	0.43009	1.140000	0.42260	0.561000	0.74099	CTC	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042869.1		+	ENST00000367097.3	Missense_Mutation	SNP	6 : 158923474 - 158923474 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	562	91
INSM2	84684	broad.mit.edu	37	14	36004387	36004387	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36004387G>A	ENST00000307169.3	+	1	1140	c.929G>A	c.(928-930)cGc>cAc	p.R310H		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		GCCTCCCATCGCCGCTGGCAT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	30	29			NA	NA	14		NA											NA				36004387		2203	4296	6499	SO:0001583	missense			AF260323	CCDS9657.1	14q13.1	2013-01-08			ENSG00000168348	ENSG00000168348	NA	84684		Zinc fingers, C2H2-type	17539	protein-coding gene	gene with protein product	mlt 1	614027			NA		Standard		NM_032594	NA	Approved	IA-6	uc001wth.1	Q96T92	OTTHUMG00000140223	ENST00000307169.3:c.929G>A	14.37:g.36004387G>A	ENSP00000306523:p.Arg310His	NA	A1L432|Q8N8K7|Q96Q84	37	CCDS9657.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.964553	0.92791	.	.	ENSG00000168348	ENST00000307169	T	0.52057	0.68	4.95	4.95	0.65309	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32655	N	0.005812	T	0.60431	0.2268	L	0.37630	1.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63571	-0.6607	10	0.62326	D	0.03	-21.8935	16.9569	0.86262	0.0:0.0:1.0:0.0	.	310	Q96T92	INSM2_HUMAN	H	310	ENSP00000306523:R310H	ENSP00000306523:R310H	R	+	2	0	INSM2	35074138	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.351000	0.97073	2.269000	0.75478	0.563000	0.77884	CGC	INSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276686.1		+	ENST00000307169.3	Missense_Mutation	SNP	14 : 36004387 - 36004387 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	327	37
ADAMTS18	170692	broad.mit.edu	37	16	77323306	77323306	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77323306G>A	ENST00000282849.5	-	22	3823	c.3405C>T	c.(3403-3405)tgC>tgT	p.C1135C	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1135	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGGTGACTGTGCACTGCAGCA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	65	63			NA	NA	16		NA											NA				77323306		2198	4300	6498	SO:0001819	synonymous_variant			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873	170692	170692		ADAM metallopeptidases with thrombospondin type 1 motif	17110	protein-coding gene	gene with protein product		607512	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18	ADAMTS21	NA	11867212, 17546048	Standard		NM_199355	NA	Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.3405C>T	16.37:g.77323306G>A		NA	Q6P4R5|Q6ZWJ9	37	CCDS10926.1																																																																																			ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269037.1		-	ENST00000282849.5	Silent	SNP	16 : 77323306 - 77323306 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	532	132
NAA40	79829	broad.mit.edu	37	11	63721914	63721914	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63721914C>T	ENST00000542163.1	+	8	958	c.614C>T	c.(613-615)tCc>tTc	p.S205F	NAA40_ENST00000539656.1_Missense_Mutation_p.S113F|NAA40_ENST00000456907.2_Missense_Mutation_p.S186F|NAA40_ENST00000377793.4_Missense_Mutation_p.S226F			Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit	226	N-acetyltransferase.						N-acetyltransferase activity			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						AGCCATCACTCCCACGCGGGT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	58	59			NA	NA	11		NA											NA				63721914		2201	4297	6498	SO:0001583	missense			AK023910	CCDS8053.1, CCDS73311.1	11q13.1	2013-10-11	2013-08-28	2010-01-14	ENSG00000110583	ENSG00000110583	79829	79829		N(alpha)-acetyltransferase subunits	25845	protein-coding gene	gene with protein product			N-acetyltransferase 11, N-acetyltransferase 11 (GCN5-related, putative), N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae)	NAT11	NA	19660095	Standard	NM_024771	XM_005274296	NA	Approved	FLJ13848	uc009yoz.3	Q86UY6	OTTHUMG00000167784	ENST00000542163.1:c.614C>T	11.37:g.63721914C>T	ENSP00000442055:p.Ser205Phe	NA	Q5HYL5|Q9H897	37		.	.	.	.	.	.	.	.	.	.	C	17.48	3.401041	0.62288	.	.	ENSG00000110583	ENST00000377793;ENST00000456907;ENST00000539656;ENST00000542163	.	.	.	4.68	4.68	0.58851	.	0.421413	0.28555	N	0.014933	T	0.41696	0.1170	N	0.14661	0.345	0.50813	D	0.999892	B;B	0.32693	0.38;0.38	B;B	0.28011	0.085;0.085	T	0.50039	-0.8874	9	0.72032	D	0.01	-13.045	16.5473	0.84450	0.0:1.0:0.0:0.0	.	186;226	B4DU10;Q86UY6	.;NAA40_HUMAN	F	226;186;113;205	.	ENSP00000367024:S226F	S	+	2	0	NAA40	63478490	1.000000	0.71417	0.991000	0.47740	0.610000	0.37248	3.430000	0.52807	2.429000	0.82318	0.555000	0.69702	TCC	NAA40-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000396269.1		+	ENST00000542163.1	Missense_Mutation	SNP	11 : 63721914 - 63721914 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	67
SPATA18	132671	broad.mit.edu	37	4	52945942	52945942	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52945942G>T	ENST00000419395.2	+	8	1405	c.1116G>T	c.(1114-1116)aaG>aaT	p.K372N	SPATA18_ENST00000295213.4_Missense_Mutation_p.K404N			Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	404					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	p.K404N(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCAATCCCAAGATTTCATTCC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(2)											289	270	277			NA	NA	4		NA											NA				52945942		2203	4300	6503	SO:0001583	missense			BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071	132671	132671			29579	protein-coding gene	gene with protein product		612814	spermatogenesis associated 18 homolog (rat)		NA	21300779	Standard	NM_145263	XR_245253	NA	Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000419395.2:c.1116G>T	4.37:g.52945942G>T	ENSP00000415309:p.Lys372Asn	NA	B4E2R0|E5RLK1|Q8IY48|Q8N7D7	37		.	.	.	.	.	.	.	.	.	.	G	18.15	3.559194	0.65538	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.34859	1.34;3.69	5.4	5.4	0.78164	.	0.318068	0.38326	N	0.001736	T	0.52322	0.1727	L	0.55481	1.735	0.43647	D	0.996057	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.973;0.973;0.997	T	0.51474	-0.8701	10	0.66056	D	0.02	-28.9994	9.989	0.41858	0.089:0.0:0.911:0.0	.	372;404;404	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	N	404;372	ENSP00000295213:K404N;ENSP00000415309:K372N	ENSP00000295213:K404N	K	+	3	2	SPATA18	52640699	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	2.347000	0.44036	2.814000	0.96858	0.655000	0.94253	AAG	SPATA18-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000361442.1		+	ENST00000419395.2	Missense_Mutation	SNP	4 : 52945942 - 52945942 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1571	289
NTNG1	22854	broad.mit.edu	37	1	107973466	107973466	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:107973466G>A	ENST00000370068.1	+	6	2028	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000542803.1_Silent_p.Q394Q|NTNG1_ENST00000370073.2_Silent_p.Q394Q|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370065.1_Silent_p.Q394Q|NTNG1_ENST00000370072.3_Silent_p.Q394Q|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370061.3_Intron			Q9Y2I2	NTNG1_HUMAN	netrin G1	394	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CTAGAGGGCAGCACTGTGAGT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	107	111			NA	NA	1		NA											NA				107973466		1568	3582	5150	SO:0001819	synonymous_variant			AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631	22854	22854		Netrins	23319	protein-coding gene	gene with protein product	netrin G1f, Netrin-G1	608818			NA	10964959	Standard	NM_014917	NM_001113226	NA	Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.1182G>A	1.37:g.107973466G>A		NA	Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	37	CCDS44180.1																																																																																			NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000030340.1		+	ENST00000370068.1	Silent	SNP	1 : 107973466 - 107973466 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	155	15
FAM227B	196951	broad.mit.edu	37	15	49868971	49868971	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49868971A>C	ENST00000299338.6	-	7	816	c.513T>G	c.(511-513)atT>atG	p.I171M	FAM227B_ENST00000560246.1_3'UTR|FAM227B_ENST00000558594.1_3'UTR|FAM227B_ENST00000561064.1_Missense_Mutation_p.I171M	NM_152647.2	NP_689860.2			family with sequence similarity 227, member B	NA											NA						TAAAAAGATAAATTTGTTCAG	0.308		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	15		NA											NA				49868971		2196	4292	6488	SO:0001583	missense				CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262	196951	196951			26543	protein-coding gene	gene with protein product			chromosome 15 open reading frame 33	C15orf33	NA		Standard	NM_152647	NM_152647	NA	Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.513T>G	15.37:g.49868971A>C	ENSP00000299338:p.Ile171Met	NA		37	CCDS32237.1	.	.	.	.	.	.	.	.	.	.	A	4.245	0.044440	0.08196	.	.	ENSG00000166262	ENST00000299338;ENST00000354658	.	.	.	4.79	2.39	0.29439	.	0.123548	0.36591	N	0.002511	T	0.35038	0.0918	N	0.25957	0.775	0.80722	D	1	B;B	0.25563	0.039;0.129	B;B	0.27715	0.082;0.066	T	0.09818	-1.0657	9	0.46703	T	0.11	-6.1224	5.5213	0.16933	0.6453:0.1813:0.0:0.1733	.	171;171	Q96M60-2;Q96M60	.;CO033_HUMAN	M	171	.	ENSP00000299338:I171M	I	-	3	3	C15orf33	47656263	0.999000	0.42202	0.992000	0.48379	0.139000	0.21198	0.595000	0.24029	0.379000	0.24794	-1.804000	0.00617	ATT	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417872.1		-	ENST00000299338.6	Missense_Mutation	SNP	15 : 49868971 - 49868971 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	134	27
GPSM1	26086	broad.mit.edu	37	9	139233060	139233060	+	Silent	SNP	G	G	A	rs140857825		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139233060G>A	ENST00000392945.3	+	7	1087	c.867G>A	c.(865-867)gcG>gcA	p.A289A	GPSM1_ENST00000440944.1_Silent_p.A289A	NM_015597.4	NP_056412.5	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	289	Mediates association with membranes (By similarity).				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		CAGTGGAGGCGCAGGCCTGCT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	0,4388		0,0,2194	42	35	38		867,867	-8.8	0.4	9	dbSNP_134	38	1,8575		0,1,4287	no	coding-synonymous,coding-synonymous	GPSM1	NM_001145638.1,NM_015597.4	,	0,1,6481	AA,AG,GG	NA	0.0117,0.0,0.0077	,	289/676,289/458	139233060	1,12963	2194	4288	6482	SO:0001819	synonymous_variant			AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360	26086	26086		Tetratricopeptide (TTC) repeat domain containing	17858	protein-coding gene	gene with protein product	AGS3 homolog (C. elegans)	609491	G-protein signalling modulator 1 (AGS3-like, C. elegans)		NA	11278352, 10969064	Standard	NM_015597	NM_001145639	NA	Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000392945.3:c.867G>A	9.37:g.139233060G>A		NA	A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	37	CCDS6996.2																																																																																			GPSM1-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253513.2		+	ENST00000392945.3	Silent	SNP	9 : 139233060 - 139233060 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	96	18
CEP68	23177	broad.mit.edu	37	2	65296585	65296585	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:65296585C>T	ENST00000260569.4	+	2	117	c.7C>T	c.(7-9)Ctg>Ttg	p.L3L	CEP68_ENST00000537589.1_Intron|CEP68_ENST00000377990.2_Silent_p.L3L|CEP68_ENST00000546106.1_Silent_p.L3L			Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	3					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CTCAATGGCCCTGGGTGAAGA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	81	77			NA	NA	2		NA											NA				65296585		2197	4274	6471	SO:0001819	synonymous_variant			BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523	23177	23177			29076	protein-coding gene	gene with protein product			KIAA0582	KIAA0582	NA	9628581, 9847074, 14654843	Standard	NM_015147	NM_015147	NA	Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000260569.4:c.7C>T	2.37:g.65296585C>T		NA	B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	37																																																																																				CEP68-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000251728.2		+	ENST00000260569.4	Silent	SNP	2 : 65296585 - 65296585 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	736	97
APAF1	317	broad.mit.edu	37	12	99053094	99053094	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:99053094G>A	ENST00000359972.2	+	5	1227	c.650G>A	c.(649-651)cGc>cAc	p.R217H	APAF1_ENST00000551964.1_Missense_Mutation_p.R228H|APAF1_ENST00000549007.1_Missense_Mutation_p.R228H|APAF1_ENST00000552268.1_Missense_Mutation_p.R228H|APAF1_ENST00000333991.1_Missense_Mutation_p.R228H|APAF1_ENST00000547045.1_Missense_Mutation_p.R228H|APAF1_ENST00000550527.1_Missense_Mutation_p.R217H|APAF1_ENST00000357310.1_Missense_Mutation_p.R228H|APAF1_ENST00000339433.3_Missense_Mutation_p.R228H	NM_001160.2|NM_013229.2	NP_001151.1|NP_037361.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	228	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GACCGTCTCCGCATTCTGATG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	93	94			NA	NA	12		NA											NA				99053094		2203	4300	6503	SO:0001583	missense			AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868	317	317		WD repeat domain containing	576	protein-coding gene	gene with protein product		602233	apoptotic protease activating factor, apoptotic peptidase activating factor		NA	9267021, 10702682	Standard	NM_181861.1	NM_181861	NA	Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000359972.2:c.650G>A	12.37:g.99053094G>A	ENSP00000353059:p.Arg217His	NA	B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	37	CCDS55863.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.819499	0.71028	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000333991;ENST00000552268;ENST00000550527;ENST00000547045;ENST00000549007	D;D;D;D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	5.53	4.63	0.57726	NB-ARC (1);	0.049268	0.85682	D	0.000000	D	0.87075	0.6087	L	0.61218	1.895	0.80722	D	1	D;P;P;P;D	0.76494	0.974;0.474;0.803;0.938;0.999	B;B;B;B;D	0.71184	0.233;0.078;0.151;0.344;0.972	D	0.86685	0.1919	10	0.46703	T	0.11	-17.0243	14.7562	0.69567	0.0704:0.0:0.9296:0.0	.	228;228;217;228;217	O14727-6;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	H	228;217;228;228;228;228;217;228;228	ENSP00000448165:R228H;ENSP00000353059:R217H;ENSP00000349862:R228H;ENSP00000341830:R228H;ENSP00000334558:R228H;ENSP00000448826:R228H;ENSP00000448449:R217H;ENSP00000449791:R228H;ENSP00000448161:R228H	ENSP00000334558:R228H	R	+	2	0	APAF1	97577225	1.000000	0.71417	0.974000	0.42286	0.160000	0.22226	6.819000	0.75262	2.610000	0.88304	0.650000	0.86243	CGC	APAF1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408007.1		+	ENST00000359972.2	Missense_Mutation	SNP	12 : 99053094 - 99053094 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	468	86
RYR3	6263	broad.mit.edu	37	15	33872190	33872190	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33872190A>G	ENST00000389232.4	+	13	1352	c.1282A>G	c.(1282-1284)Aca>Gca	p.T428A	RYR3_ENST00000415757.3_Missense_Mutation_p.T428A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	428					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAACAATCGCACAGCTGCCCC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	57	57			NA	NA	15		NA											NA				33872190		2009	4186	6195	SO:0001583	missense				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838	6263	6263		Ion channels / Ryanodine receptors, EF-hand domain containing	10485	protein-coding gene	gene with protein product		180903			NA	8276408	Standard		NM_001036	NA	Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1282A>G	15.37:g.33872190A>G	ENSP00000373884:p.Thr428Ala	NA	O15175|Q15412	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	A	5.532	0.283132	0.10458	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96427	-4.01;-4.01	5.15	5.15	0.70609	.	0.370359	0.29376	N	0.012324	D	0.88865	0.6553	N	0.17082	0.46	0.28262	N	0.924809	B;B	0.09022	0.0;0.002	B;B	0.06405	0.001;0.002	T	0.75838	-0.3176	10	0.06099	T	0.92	.	7.2164	0.25961	0.778:0.1465:0.0756:0.0	.	428;428	Q15413-2;Q15413	.;RYR3_HUMAN	A	428	ENSP00000373884:T428A;ENSP00000399610:T428A	ENSP00000354735:T428A	T	+	1	0	RYR3	31659482	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	2.266000	0.43320	2.160000	0.67779	0.533000	0.62120	ACA	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417514.1		+	ENST00000389232.4	Missense_Mutation	SNP	15 : 33872190 - 33872190 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	276	42
LCLAT1	253558	broad.mit.edu	37	2	30756073	30756073	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:30756073G>A	ENST00000309052.4	+	4	580	c.371G>A	c.(370-372)cGg>cAg	p.R124Q	LCLAT1_ENST00000359433.1_Missense_Mutation_p.R124Q|LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000319406.4_Missense_Mutation_p.R124Q|LCLAT1_ENST00000540623.1_Missense_Mutation_p.R86Q|LCLAT1_ENST00000379509.3_Missense_Mutation_p.R86Q	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	124					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						ATGAACCATCGGACAAGAATG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													210	200	203			NA	NA	2		NA											NA				30756073		2203	4300	6503	SO:0001583	missense			AK095284	CCDS1772.1, CCDS42670.1	2p23.1	2008-12-15	2008-12-15	2008-12-15	ENSG00000172954	ENSG00000172954	253558	253558			26756	protein-coding gene	gene with protein product		614241	lysocardiolipin acyltransferase	LYCAT	NA	18931347, 15152008, 16620771, 17675553	Standard	NM_182551	NM_001002257	NA	Approved	FLJ37965, ALCAT1, AGPAT8	uc002rnl.3	Q6UWP7	OTTHUMG00000099349	ENST00000309052.4:c.371G>A	2.37:g.30756073G>A	ENSP00000310551:p.Arg124Gln	NA	Q8N1Q7	37	CCDS1772.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938400	0.73557	.	.	ENSG00000172954	ENST00000466477;ENST00000465200;ENST00000379509;ENST00000444270;ENST00000319406;ENST00000488144;ENST00000465538;ENST00000309052;ENST00000359433;ENST00000540623;ENST00000476038;ENST00000497423;ENST00000476535	D;D;D;D;D;D;D;D;D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96	5.41	3.61	0.41365	Phospholipid/glycerol acyltransferase (2);	0.101779	0.64402	D	0.000001	D	0.92397	0.7587	L	0.38649	1.16	0.58432	D	0.999994	D;D	0.89917	0.999;1.0	D;D	0.91635	0.965;0.999	D	0.88787	0.3275	10	0.19590	T	0.45	-12.3911	11.7451	0.51815	0.1428:0.0:0.8572:0.0	.	124;124	Q6UWP7-2;Q6UWP7	.;LCLT1_HUMAN	Q	86;86;86;86;124;86;86;124;124;86;86;124;86	ENSP00000419966:R86Q;ENSP00000420481:R86Q;ENSP00000368823:R86Q;ENSP00000368826:R124Q;ENSP00000417951:R86Q;ENSP00000417565:R86Q;ENSP00000310551:R124Q;ENSP00000352406:R124Q;ENSP00000442857:R86Q;ENSP00000419646:R86Q;ENSP00000417875:R124Q;ENSP00000419444:R86Q	ENSP00000310551:R124Q	R	+	2	0	LCLAT1	30609577	1.000000	0.71417	0.995000	0.50966	0.287000	0.27160	9.554000	0.98121	0.771000	0.33359	0.650000	0.86243	CGG	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216780.1		+	ENST00000309052.4	Missense_Mutation	SNP	2 : 30756073 - 30756073 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1100	207
VPS13C	54832	broad.mit.edu	37	15	62264895	62264895	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:62264895C>T	ENST00000261517.5	-	27	2759	c.2686G>A	c.(2686-2688)Gaa>Aaa	p.E896K	VPS13C_ENST00000395896.4_Missense_Mutation_p.E896K|VPS13C_ENST00000249837.3_Missense_Mutation_p.E853K|VPS13C_ENST00000395898.3_Missense_Mutation_p.E853K	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	896					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTTTTAAGTTCTGATCCTTTC	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	134	135			NA	NA	15		NA											NA				62264895		2203	4300	6503	SO:0001583	missense			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003	54832	54832			23594	protein-coding gene	gene with protein product		608879	vacuolar protein sorting 13C (yeast)		NA		Standard	NM_017684	NM_018080	NA	Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.2686G>A	15.37:g.62264895C>T	ENSP00000261517:p.Glu896Lys	NA	Q6ISR4|Q702P2|Q702P3|Q709C9|Q9NXN8|Q9P2C6	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.599160	0.28534	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.16597	2.33;2.33;2.33	5.29	5.29	0.74685	.	0.357258	0.26796	N	0.022455	T	0.18676	0.0448	L	0.50333	1.59	0.43394	D	0.99551	B;B;B;B	0.30973	0.302;0.152;0.185;0.004	B;B;B;B	0.23852	0.036;0.036;0.049;0.007	T	0.02766	-1.1113	10	0.28530	T	0.3	.	19.3229	0.94250	0.0:1.0:0.0:0.0	.	853;896;853;896	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	K	853;896;896;896	ENSP00000249837:E853K;ENSP00000261517:E896K;ENSP00000379233:E896K	ENSP00000249837:E853K	E	-	1	0	VPS13C	60052187	0.889000	0.30405	0.955000	0.39395	0.506000	0.33950	3.224000	0.51238	2.642000	0.89623	0.591000	0.81541	GAA	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415997.1		-	ENST00000261517.5	Missense_Mutation	SNP	15 : 62264895 - 62264895 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	525	90
COL12A1	1303	broad.mit.edu	37	6	75844520	75844520	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:75844520C>A	ENST00000322507.8	-	32	5755	c.5446G>T	c.(5446-5448)Gac>Tac	p.D1816Y	COL12A1_ENST00000483888.2_Missense_Mutation_p.D1816Y|COL12A1_ENST00000345356.6_Missense_Mutation_p.D652Y|COL12A1_ENST00000416123.2_Missense_Mutation_p.D1816Y	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1816	Fibronectin type-III 13.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TAAGGAGTGTCTGGCTTCAGT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	143	143			NA	NA	6		NA											NA				75844520		1972	4165	6137	SO:0001583	missense			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799	1303	1303		Proteoglycans / Extracellular Matrix : Collagen proteoglycans, Collagens, Fibronectin type III domain containing	2188	protein-coding gene	gene with protein product	collagen type XII proteoglycan	120320	collagen, type XII, alpha 1-like	COL12A1L	NA	9143499	Standard	NM_004370	XM_006715334	NA	Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.5446G>T	6.37:g.75844520C>A	ENSP00000325146:p.Asp1816Tyr	NA	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	37	CCDS43482.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.1|20.1	3.933242|3.933242	0.73442|0.73442	.|.	.|.	ENSG00000111799|ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888|ENST00000419671	T;T;T;T|.	0.57595|.	0.39;0.39;0.39;0.39|.	5.87|5.87	5.0|5.0	0.66597|0.66597	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.61862|0.61862	0.2381|0.2381	M|M	0.63208|0.63208	1.945|1.945	0.46823|0.46823	D|D	0.999218|0.999218	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.80764|.	0.983;0.994|.	T|T	0.63216|0.63216	-0.6687|-0.6687	10|5	0.72032|.	D|.	0.01|.	.|.	15.0639|15.0639	0.71977|0.71977	0.0:0.9321:0.0:0.0679|0.0:0.9321:0.0:0.0679	.|.	652;1816|.	Q99715-2;Q99715|.	.;COCA1_HUMAN|.	Y|I	1816;1816;652;1816;1816|550	ENSP00000325146:D1816Y;ENSP00000305147:D652Y;ENSP00000412864:D1816Y;ENSP00000421216:D1816Y|.	ENSP00000325146:D1816Y|.	D|R	-|-	1|2	0|0	COL12A1|COL12A1	75901240|75901240	1.000000|1.000000	0.71417|0.71417	0.511000|0.511000	0.27724|0.27724	0.764000|0.764000	0.43329|0.43329	5.594000|5.594000	0.67557|0.67557	1.493000|1.493000	0.48517|0.48517	0.650000|0.650000	0.86243|0.86243	GAC|AGA	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041249.3		-	ENST00000322507.8	Missense_Mutation	SNP	6 : 75844520 - 75844520 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	394	78
MED14	9282	broad.mit.edu	37	X	40586068	40586068	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:40586068C>T	ENST00000324817.1	-	3	396	c.278G>A	c.(277-279)cGc>cAc	p.R93H		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	93					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAAGAGTTGGCGTGTCCGGCT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	46	48			NA	NA	X		NA											NA				40586068		2203	4300	6503	SO:0001583	missense			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182	9282	9282			2370	protein-coding gene	gene with protein product		300182	cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa	CXorf4, CRSP2	NA	9989412, 9598311	Standard	NM_004229	NM_004229	NA	Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.278G>A	X.37:g.40586068C>T	ENSP00000323720:p.Arg93His	NA	Q4KMR7|Q9UNB3	37	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573841	0.86542	.	.	ENSG00000180182	ENST00000324817	.	.	.	4.98	4.12	0.48240	.	0.000000	0.85682	D	0.000000	T	0.76357	0.3976	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77205	-0.2673	9	0.54805	T	0.06	.	12.429	0.55563	0.0:0.9145:0.0:0.0855	.	93	O60244	MED14_HUMAN	H	93	.	ENSP00000323720:R93H	R	-	2	0	MED14	40471012	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	7.314000	0.78988	0.993000	0.38866	-0.268000	0.10319	CGC	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060692.1		-	ENST00000324817.1	Missense_Mutation	SNP	X : 40586068 - 40586068 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	197	39
ZFYVE26	23503	broad.mit.edu	37	14	68229501	68229501	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68229501A>G	ENST00000347230.4	-	33	6185	c.6047T>C	c.(6046-6048)gTt>gCt	p.V2016A	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.V2016A	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2016					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GGCAGCAGCAACTAAAATATT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	72	76			NA	NA	14		NA											NA				68229501		2203	4300	6503	SO:0001583	missense			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121	23503	23503		Zinc fingers, FYVE domain containing	20761	protein-coding gene	gene with protein product	spastizin, FYVE-CENT	612012	spastic paraplegia 15 (complicated, autosomal recessive)	SPG15	NA	9205841, 18394578	Standard	NM_015346	NM_015346	NA	Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.6047T>C	14.37:g.68229501A>G	ENSP00000251119:p.Val2016Ala	NA	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	A	33	5.209454	0.95069	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.38722	1.28;1.12	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.59609	0.2206	L	0.49640	1.575	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.60125	-0.7324	10	0.52906	T	0.07	-14.7705	15.8326	0.78769	1.0:0.0:0.0:0.0	.	2016;2016	G3V2D8;Q68DK2	.;ZFY26_HUMAN	A	2016;1995;2016	ENSP00000251119:V2016A;ENSP00000450603:V2016A	ENSP00000251119:V2016A	V	-	2	0	ZFYVE26	67299254	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.339000	0.96797	2.146000	0.66826	0.460000	0.39030	GTT	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412736.2		-	ENST00000347230.4	Missense_Mutation	SNP	14 : 68229501 - 68229501 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	189	30
RARRES3	5920	broad.mit.edu	37	11	63312262	63312262	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63312262G>A	ENST00000439013.2	+	3	341	c.288G>A	c.(286-288)gcG>gcA	p.A96A	RARRES3_ENST00000255688.3_Silent_p.A96A|RARRES3_ENST00000354445.2_Silent_p.A96A|RARRES3_ENST00000537871.1_3'UTR			Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	96					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						TCAGTTCTGCGAAGGAGATGG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	132	131			NA	NA	11		NA											NA				63312262		2026	4195	6221	SO:0001819	synonymous_variant				CCDS41662.1	11q23	2008-05-02			ENSG00000133321	ENSG00000133321	5920	5920			9869	protein-coding gene	gene with protein product		605092			NA	9270552	Standard		NM_004585	NA	Approved	TIG3, HRASLS4	uc001nxf.4	Q9UL19	OTTHUMG00000167850	ENST00000439013.2:c.288G>A	11.37:g.63312262G>A		NA	B2R599|B4DDW2|E7ENZ7|O95200	37																																																																																				RARRES3-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000396628.1		+	ENST00000439013.2	Silent	SNP	11 : 63312262 - 63312262 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	637	107
TMTC1	83857	broad.mit.edu	37	12	29659826	29659826	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29659826G>A	ENST00000256062.5	-	18	2751	c.2278C>T	c.(2278-2280)Cgc>Tgc	p.R760C	TMTC1_ENST00000539277.1_Missense_Mutation_p.R868C|TMTC1_ENST00000552618.1_Missense_Mutation_p.R892C|TMTC1_ENST00000551659.1_Missense_Mutation_p.R930C|TMTC1_ENST00000319685.8_5'UTR	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	868						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TTTTCTAGGCGATCCAATTTG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													260	254	256			NA	NA	12		NA											NA				29659826		2203	4300	6503	SO:0001583	missense				CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687	83857	83857		Tetratricopeptide (TTC) repeat domain containing	24099	protein-coding gene	gene with protein product		615855			NA	24764305	Standard	NM_031920	NM_001193451	NA	Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000256062.5:c.2278C>T	12.37:g.29659826G>A	ENSP00000256062:p.Arg760Cys	NA	D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	37	CCDS8718.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219115	0.79464	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277	T;T;T;T	0.69806	-0.43;-0.23;-0.43;-0.31	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.83885	0.5351	M	0.86178	2.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	D	0.86309	0.1685	10	0.66056	D	0.02	-14.4245	17.4952	0.87715	0.0:0.0:1.0:0.0	.	868;930;213	Q8IUR5;F8VTQ9;Q8IUR5-4	TMTC1_HUMAN;.;.	C	631;760;930;892;868	ENSP00000256062:R760C;ENSP00000448112:R930C;ENSP00000449043:R892C;ENSP00000442046:R868C	ENSP00000256062:R760C	R	-	1	0	TMTC1	29551093	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.186000	0.65082	2.463000	0.83235	0.650000	0.86243	CGC	TMTC1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403503.1		-	ENST00000256062.5	Missense_Mutation	SNP	12 : 29659826 - 29659826 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	813	120
TAS1R2	80834	broad.mit.edu	37	1	19181132	19181132	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19181132C>T	ENST00000375371.3	-	3	853	c.832G>A	c.(832-834)Gac>Aac	p.D278N	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	278					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AGGGTCAGGTCGGGCGAGAAC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	57	59			NA	NA	1		NA											NA				19181132		2203	4300	6503	SO:0001583	missense				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002	80834	80834		Taste receptors / Type 1, GPCR / Unclassified : Taste receptors	14905	protein-coding gene	gene with protein product		606226	G protein-coupled receptor 71	GPR71	NA		Standard		NM_152232	NA	Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.832G>A	1.37:g.19181132C>T	ENSP00000364520:p.Asp278Asn	NA	Q5TZ19	37	CCDS187.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.091015	0.55968	.	.	ENSG00000179002	ENST00000375371	D	0.82984	-1.67	4.99	4.99	0.66335	Extracellular ligand-binding receptor (1);	0.820936	0.10616	N	0.653957	D	0.86481	0.5943	L	0.43152	1.355	0.28072	N	0.93254	D	0.69078	0.997	P	0.62560	0.904	T	0.77354	-0.2619	10	0.18710	T	0.47	.	15.8175	0.78615	0.0:1.0:0.0:0.0	.	278	Q8TE23	TS1R2_HUMAN	N	278	ENSP00000364520:D278N	ENSP00000364520:D278N	D	-	1	0	TAS1R2	19053719	0.004000	0.15560	0.173000	0.22940	0.028000	0.11728	0.976000	0.29462	2.607000	0.88179	0.561000	0.74099	GAC	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006953.1		-	ENST00000375371.3	Missense_Mutation	SNP	1 : 19181132 - 19181132 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	210	19
RANBP2	5903	broad.mit.edu	37	2	109380402	109380402	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109380402G>A	ENST00000283195.6	+	20	3533	c.3407G>A	c.(3406-3408)gGt>gAt	p.G1136D		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1136					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ACTTTCCATGGTCCAGGGAAA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	85	85			NA	NA	2		NA											NA				109380402		2203	4299	6502	SO:0001583	missense			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201	5903	5903		Tetratricopeptide (TTC) repeat domain containing	9848	protein-coding gene	gene with protein product		601181	acute necrotizing encephalopathy 1 (autosomal dominant)	ANE1	NA	7724562, 19118815	Standard	NM_006267	NM_006267	NA	Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.3407G>A	2.37:g.109380402G>A	ENSP00000283195:p.Gly1136Asp	NA	Q13074|Q15280|Q53TE2|Q59FH7	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.442717	0.25987	.	.	ENSG00000153201	ENST00000283195	T	0.28069	1.63	5.44	4.55	0.56014	.	.	.	.	.	T	0.24160	0.0585	L	0.38953	1.18	0.19775	N	0.999955	B	0.10296	0.003	B	0.08055	0.003	T	0.05131	-1.0904	9	0.48119	T	0.1	-13.12	8.3245	0.32149	0.1773:0.0:0.8227:0.0	.	1136	P49792	RBP2_HUMAN	D	1136	ENSP00000283195:G1136D	ENSP00000283195:G1136D	G	+	2	0	RANBP2	108746834	0.832000	0.29368	0.996000	0.52242	0.199000	0.23934	3.153000	0.50685	2.537000	0.85549	0.557000	0.71058	GGT	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253594.1		+	ENST00000283195.6	Missense_Mutation	SNP	2 : 109380402 - 109380402 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	571	116
DCAF4	26094	broad.mit.edu	37	14	73412676	73412676	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73412676C>A	ENST00000353777.3	+	5	611	c.436C>A	c.(436-438)Ctg>Atg	p.L146M	DCAF4_ENST00000553457.1_Missense_Mutation_p.L107M|DCAF4_ENST00000358377.2_Missense_Mutation_p.L207M|DCAF4_ENST00000555042.1_Missense_Mutation_p.L207M|DCAF4_ENST00000509153.1_Missense_Mutation_p.L146M|DCAF4_ENST00000394234.2_Missense_Mutation_p.L107M			Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	207						CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						CCTGCAAAGTCTGAAGACCCC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													191	175	181			NA	NA	14		NA											NA				73412676		2203	4300	6503	SO:0001583	missense			BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599	26094	26094		WD repeat domain containing, DDB1 and CUL4 associated factors	20229	protein-coding gene	gene with protein product			WD repeat domain 21, WD repeat domain 21A	WDR21, WDR21A	NA		Standard	NM_015604	NM_015604	NA	Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000353777.3:c.436C>A	14.37:g.73412676C>A	ENSP00000345176:p.Leu146Met	NA	Q86U31|Q96K22|Q9Y4P5	37		.	.	.	.	.	.	.	.	.	.	C	12.68	2.011983	0.35511	.	.	ENSG00000119599	ENST00000358377;ENST00000353777;ENST00000394234;ENST00000509153;ENST00000555042;ENST00000553457	T;T;T;T;T;T	0.73575	0.28;-0.44;-0.76;0.31;-0.13;4.76	6.04	4.98	0.66077	.	0.233339	0.44483	D	0.000451	D	0.83308	0.5226	M	0.63843	1.955	0.24821	N	0.992582	D;D;D;D;D;D	0.76494	0.995;0.999;0.999;0.999;0.999;0.998	D;D;D;D;D;D	0.78314	0.909;0.984;0.991;0.991;0.956;0.976	T	0.74884	-0.3512	10	0.41790	T	0.15	.	15.0067	0.71519	0.0:0.8821:0.0:0.1179	.	146;185;207;207;146;207	B4DUT6;B4DN30;Q8WV16-2;G3V522;Q86SY2;Q8WV16	.;.;.;.;.;DCAF4_HUMAN	M	207;146;107;146;207;107	ENSP00000351147:L207M;ENSP00000345176:L146M;ENSP00000377781:L107M;ENSP00000426178:L146M;ENSP00000452131:L207M;ENSP00000451186:L107M	ENSP00000345176:L146M	L	+	1	2	DCAF4	72482429	0.340000	0.24792	0.621000	0.29145	0.112000	0.19704	0.772000	0.26647	2.873000	0.98535	0.561000	0.74099	CTG	DCAF4-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000361692.1		+	ENST00000353777.3	Missense_Mutation	SNP	14 : 73412676 - 73412676 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1111	205
PCDHB15	56121	broad.mit.edu	37	5	140627467	140627467	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140627467T>G	ENST00000231173.3	+	1	2321	c.2321T>G	c.(2320-2322)aTt>aGt	p.I774S		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	774					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCCAAATATTGTAAGCCAG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	93	90			NA	NA	5		NA											NA				140627467		2203	4300	6503	SO:0001583	missense			AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248	56121	56121		Cadherins / Protocadherins : Clustered	8686	other	protocadherin		606341			NA	10380929	Standard	NM_018935	NM_018935	NA	Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.2321T>G	5.37:g.140627467T>G	ENSP00000231173:p.Ile774Ser	NA	Q8IUX5	37	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	T	8.494	0.862678	0.17178	.	.	ENSG00000113248	ENST00000231173	T	0.13657	2.57	4.39	0.331	0.15933	.	.	.	.	.	T	0.10895	0.0266	L	0.47078	1.49	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.31251	-0.9950	9	0.49607	T	0.09	.	3.6539	0.08213	0.1313:0.0786:0.1362:0.6539	.	774	Q9Y5E8	PCDBF_HUMAN	S	774	ENSP00000231173:I774S	ENSP00000231173:I774S	I	+	2	0	PCDHB15	140607651	0.000000	0.05858	0.006000	0.13384	0.017000	0.09413	0.505000	0.22642	0.154000	0.19237	0.454000	0.30748	ATT	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251804.2		+	ENST00000231173.3	Missense_Mutation	SNP	5 : 140627467 - 140627467 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	847	174
HYDIN	54768	broad.mit.edu	37	16	70954552	70954552	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70954552A>G	ENST00000393567.2	-	46	7877	c.7727T>C	c.(7726-7728)tTt>tCt	p.F2576S		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2576										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CAAGCCTTCAAAGTCTGGTGT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	43	42			NA	NA	16		NA											NA				70954552		2006	4177	6183	SO:0001583	missense			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423	54768	54768		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	19368	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 31	610812	hydrocephalus inducing, hydrocephalus inducing homolog (mouse)		NA	12719380, 23022101	Standard		NM_001198542	NA	Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.7727T>C	16.37:g.70954552A>G	ENSP00000377197:p.Phe2576Ser	NA	A6NC70|A6NLZ0|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	A	8.662	0.900781	0.17686	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00760	5.73	5.89	-4.2	0.03823	.	1.438640	0.05358	N	0.533179	T	0.00666	0.0022	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48293	-0.9048	10	0.08599	T	0.76	.	10.6572	0.45682	0.2027:0.1429:0.6544:0.0	.	2575	F8WD23	.	S	2576;2575	ENSP00000377197:F2576S	ENSP00000313052:F2575S	F	-	2	0	HYDIN	69512053	0.001000	0.12720	0.000000	0.03702	0.019000	0.09904	0.702000	0.25631	-0.698000	0.05085	-0.315000	0.08773	TTT	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398624.3		-	ENST00000393567.2	Missense_Mutation	SNP	16 : 70954552 - 70954552 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	162	29
KMT2B	9757	broad.mit.edu	37	19	36212526	36212526	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36212526G>T	ENST00000222270.7	+	3	2277	c.2277G>T	c.(2275-2277)caG>caT	p.Q759H	KMT2B_ENST00000420124.1_Missense_Mutation_p.Q759H|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1			lysine (K)-specific methyltransferase 2B	NA											NA						CACAGCCACAGCTGCAGCCAC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	32	28			NA	NA	19		NA											NA				36212526		2144	4260	6404	SO:0001583	missense			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333	9757	9757		Chromatin-modifying enzymes / K-methyltransferases	15840	protein-coding gene	gene with protein product	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4	606834			NA	10409430, 10637508	Standard	NM_014727	XM_006723513	NA	Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.2277G>T	19.37:g.36212526G>T	ENSP00000222270:p.Gln759His	NA		37	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	8.828	0.939157	0.18281	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.83755	-1.76;-1.76	5.02	-3.13	0.05266	.	0.264721	0.19987	N	0.101654	T	0.65365	0.2684	N	0.14661	0.345	0.09310	N	1	P	0.34462	0.454	B	0.34722	0.188	T	0.59495	-0.7444	10	0.49607	T	0.09	.	10.02	0.42037	0.6057:0.0:0.3943:0.0	.	759	Q9UMN6	MLL4_HUMAN	H	759	ENSP00000222270:Q759H;ENSP00000398837:Q759H	ENSP00000222270:Q759H	Q	+	3	2	AD000671.1	40904366	0.000000	0.05858	0.016000	0.15963	0.571000	0.35966	-0.882000	0.04174	-0.315000	0.08703	0.442000	0.29010	CAG	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding			+	ENST00000222270.7	Missense_Mutation	SNP	19 : 36212526 - 36212526 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	222	38
POLL	27343	broad.mit.edu	37	10	103347012	103347012	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103347012C>A	ENST00000370162.3	-	2	600	c.106G>T	c.(106-108)Gaa>Taa	p.E36*	POLL_ENST00000370169.1_Nonsense_Mutation_p.E36*|POLL_ENST00000339310.3_Missense_Mutation_p.K17N|POLL_ENST00000370158.3_Missense_Mutation_p.K19N|POLL_ENST00000370172.1_Intron|DPCD_ENST00000416979.2_Intron|POLL_ENST00000456836.2_Missense_Mutation_p.K17N|DPCD_ENST00000470165.1_Intron|POLL_ENST00000299206.4_Nonsense_Mutation_p.E36*|POLL_ENST00000436284.2_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	36	BRCT.				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		CCTTCTGCTTCTTCTCCCTCT	0.483		NA						DNA polymerases (catalytic subunits)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													215	185	195			NA	NA	10		NA											NA				103347012		2203	4300	6503	SO:0001587	stop_gained			AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169	27343	27343		DNA polymerases	9184	protein-coding gene	gene with protein product		606343			NA	17686665	Standard	NM_013274	NM_001174084	NA	Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.106G>T	10.37:g.103347012C>A	ENSP00000359181:p.Glu36*	NA	D3DR76|Q5JQP5|Q6NUM2|Q9HA10|Q9HB35	37	CCDS7513.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.28|14.28	2.488665|2.488665	0.44249|0.44249	.|.	.|.	ENSG00000166169|ENSG00000166169	ENST00000299206;ENST00000370174;ENST00000370169;ENST00000370162;ENST00000370157;ENST00000415897;ENST00000413344;ENST00000430045|ENST00000339310;ENST00000370158;ENST00000456836;ENST00000429502	.|T;T;T;T	.|0.42131	.|0.98;2.46;2.4;0.98	5.05|5.05	4.15|4.15	0.48705|0.48705	.|.	1.271560|.	0.05127|.	N|.	0.491771|.	.|T	.|0.31104	.|0.0786	.|.	.|.	.|.	0.18873|0.18873	N|N	0.999982|0.999982	.|B;B;B	.|0.31413	.|0.057;0.18;0.322	.|B;B;B	.|0.28553	.|0.019;0.025;0.091	.|T	.|0.17440	.|-1.0369	.|8	0.12766|0.48119	T|T	0.61|0.1	-6.2789|-6.2789	9.1991|9.1991	0.37246|0.37246	0.0:0.8281:0.0:0.1719|0.0:0.8281:0.0:0.1719	.|.	.|17;17;19	.|Q5JQP4;B4DEF5;Q9BTN8	.|.;.;.	X|N	36|17;19;17;17	.|ENSP00000343102:K17N;ENSP00000359177:K19N;ENSP00000390810:K17N;ENSP00000406791:K17N	ENSP00000299206:E36X|ENSP00000343102:K17N	E|K	-|-	1|3	0|2	POLL|POLL	103337002|103337002	0.186000|0.186000	0.23225|0.23225	0.010000|0.010000	0.14722|0.14722	0.049000|0.049000	0.14656|0.14656	1.336000|1.336000	0.33850|0.33850	1.143000|1.143000	0.42306|0.42306	-0.253000|-0.253000	0.11424|0.11424	GAA|AAG	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049946.1		-	ENST00000370162.3	Nonsense_Mutation	SNP	10 : 103347012 - 103347012 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	768	139
ZNF816	125893	broad.mit.edu	37	19	53453615	53453615	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53453615A>G	ENST00000357666.4	-	5	1713	c.1413T>C	c.(1411-1413)caT>caC	p.H471H	ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Silent_p.H471H|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						GAAGTGTATGATGGTATTGAA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	122	123			NA	NA	19		NA											NA				53453615		2203	4300	6503	SO:0001819	synonymous_variant			BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257	125893	125893		Zinc fingers, C2H2-type, -	26995	protein-coding gene	gene with protein product			zinc finger protein 816A	ZNF816A	NA		Standard	NM_001031665	NM_001031665	NA	Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.1413T>C	19.37:g.53453615A>G		NA	A8K7H5|Q3KR39|Q659B3	37	CCDS33096.1																																																																																			ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396132.1		-	ENST00000357666.4	Silent	SNP	19 : 53453615 - 53453615 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	592	110
PCDHB6	56130	broad.mit.edu	37	5	140531873	140531873	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140531873G>T	ENST00000231136.1	+	1	2035	c.2035G>T	c.(2035-2037)Gcc>Tcc	p.A679S	PCDHB6_ENST00000543635.1_Missense_Mutation_p.A543S	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	679					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCGGCCCAAGCCCAGGCCGA	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	73	71			NA	NA	5		NA											NA				140531873		2189	4274	6463	SO:0001583	missense			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211	56130	56130		Cadherins / Protocadherins : Clustered	8691	other	protocadherin		606332			NA	10380929	Standard	NM_018939	NM_018939	NA	Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.2035G>T	5.37:g.140531873G>T	ENSP00000231136:p.Ala679Ser	NA		37	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	8.380	0.837250	0.16891	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.52754	0.65;0.69	4.55	1.51	0.23008	.	.	.	.	.	T	0.37999	0.1024	L	0.60067	1.865	0.09310	N	1	B	0.19706	0.038	B	0.15484	0.013	T	0.42832	-0.9428	9	0.66056	D	0.02	.	1.634	0.02738	0.2053:0.1642:0.4627:0.1677	.	679	Q9Y5E3	PCDB6_HUMAN	S	543;679	ENSP00000438466:A543S;ENSP00000231136:A679S	ENSP00000231136:A679S	A	+	1	0	PCDHB6	140512057	0.000000	0.05858	0.004000	0.12327	0.119000	0.20118	0.139000	0.16036	0.397000	0.25310	0.556000	0.70494	GCC	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251818.2		+	ENST00000231136.1	Missense_Mutation	SNP	5 : 140531873 - 140531873 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1143	203
NRG1	3084	broad.mit.edu	37	8	32621451	32621451	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:32621451G>T	ENST00000287842.3	+	12	1905	c.1445G>T	c.(1444-1446)aGg>aTg	p.R482M	NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000519301.1_Missense_Mutation_p.R435M|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000338921.4_Missense_Mutation_p.R493M|NRG1_ENST00000405005.3_Missense_Mutation_p.R485M|NRG1_ENST00000356819.4_Missense_Mutation_p.R490M|NRG1_ENST00000287845.5_Missense_Mutation_p.R456M|NRG1_ENST00000539990.1_Missense_Mutation_p.R328M	NM_001160004.1|NM_013957.3	NP_001153476.1|NP_039251.2	Q02297	NRG1_HUMAN	neuregulin 1	485					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		ACACCACCAAGGCTGCGGGAG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/ARG,,MET/ARG,MET/ARG,,MET/ARG,MET/ARG,,MET/ARG	0,4406		0,0,2203	139	108	119		1355,,1406,1304,,1469,1445,,1454	5	0.1	8		119	1,8599	1.2+/-3.3	0,1,4299	no	missense,utr-3,missense,missense,utr-3,missense,missense,utr-3,missense	NRG1	NM_001159995.1,NM_001159996.1,NM_001159999.1,NM_001160001.1,NM_001160004.1,NM_013956.3,NM_013957.3,NM_013960.3,NM_013964.3	91,,91,91,,91,91,,91	0,1,6502	TT,TG,GG	NA	0.0116,0.0,0.0077	probably-damaging,,probably-damaging,probably-damaging,,probably-damaging,probably-damaging,,probably-damaging	452/608,,469/625,435/591,,490/646,482/638,,485/641	32621451	1,13005	2203	4300	6503	SO:0001583	missense			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168	3084	3084		Immunoglobulin superfamily / I-set domain containing	7997	protein-coding gene	gene with protein product		142445	NRG1 intronic transcript 2 (non-protein coding)	HGL, NRG1-IT2	NA	1350381, 8095334	Standard		NM_013962	NA	Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000287842.3:c.1445G>T	8.37:g.32621451G>T	ENSP00000287842:p.Arg482Met	NA	A5YAK4|A5YAK5|A8K1L2|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	37	CCDS6084.1	.	.	.	.	.	.	.	.	.	.	G	4.753	0.139932	0.09083	0.0	1.16E-4	ENSG00000157168	ENST00000518104;ENST00000519301;ENST00000523534;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000539990	T;T;T;T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.88	5.01	0.66863	Neuregulin 1-related, C-terminal (1);	0.240552	0.40818	N	0.001001	T	0.70011	0.3175	L	0.47716	1.5	0.09310	N	0.999999	D;P;P;P;P;P;P	0.53462	0.96;0.81;0.744;0.547;0.699;0.899;0.699	P;P;P;B;P;P;P	0.62298	0.748;0.632;0.797;0.24;0.632;0.9;0.694	T	0.63024	-0.6729	10	0.46703	T	0.11	-17.5206	12.7104	0.57086	0.1356:0.0:0.8644:0.0	.	328;456;490;493;482;485;490	B7Z1E3;F8W9E3;Q7RTW4;Q02297-2;Q02297-7;Q02297;Q02297-6	.;.;.;.;.;NRG1_HUMAN;.	M	452;435;558;493;490;485;456;482;485;328	ENSP00000430053:R452M;ENSP00000429582:R435M;ENSP00000429067:R558M;ENSP00000343395:R493M;ENSP00000349275:R490M;ENSP00000287840:R485M;ENSP00000287845:R456M;ENSP00000287842:R482M;ENSP00000384620:R485M;ENSP00000439276:R328M	ENSP00000287840:R485M	R	+	2	0	NRG1	32740993	0.565000	0.26610	0.063000	0.19743	0.024000	0.10985	2.250000	0.43178	1.503000	0.48686	0.557000	0.71058	AGG	NRG1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376467.1		+	ENST00000287842.3	Missense_Mutation	SNP	8 : 32621451 - 32621451 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	382	66
KAT5	10524	broad.mit.edu	37	11	65481297	65481297	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65481297C>T	ENST00000341318.4	+	6	902	c.668C>T	c.(667-669)tCg>tTg	p.S223L	KAT5_ENST00000534650.1_5'UTR|KAT5_ENST00000530446.1_Missense_Mutation_p.S171L|KAT5_ENST00000377046.3_Missense_Mutation_p.S190L|KAT5_ENST00000352980.4_Missense_Mutation_p.S138L	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	190					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						AAGCGAAAATCGAATTGTTTG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	28	30			NA	NA	11		NA											NA				65481297		2200	4293	6493	SO:0001583	missense			U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977	10524	10524		Chromatin-modifying enzymes / K-acetyltransferases, Zinc fingers, C2HC-type containing	5275	protein-coding gene	gene with protein product	Tat interacting protein, 60kDa, K-acetyltransferase 5	601409	HIV-1 Tat interactive protein, 60kDa	HTATIP	NA	8607265	Standard	NM_006388	NM_006388	NA	Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000341318.4:c.668C>T	11.37:g.65481297C>T	ENSP00000340330:p.Ser223Leu	NA	O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	37	CCDS8110.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.175512	0.38413	.	.	ENSG00000172977	ENST00000377046;ENST00000352980;ENST00000341318;ENST00000530446;ENST00000528198;ENST00000531880	T;T;T;T;T;T	0.44482	0.93;0.98;0.92;0.99;0.96;0.94	5.28	5.28	0.74379	.	0.258670	0.32147	N	0.006507	T	0.31327	0.0793	N	0.25647	0.755	0.80722	D	1	B;B;B;B	0.26975	0.002;0.005;0.165;0.002	B;B;B;B	0.22152	0.001;0.006;0.038;0.001	T	0.06588	-1.0818	10	0.25751	T	0.34	-8.2286	16.395	0.83601	0.0:1.0:0.0:0.0	.	171;223;138;190	B4E3C7;Q92993-3;Q92993-2;Q92993	.;.;.;KAT5_HUMAN	L	190;138;223;171;132;184	ENSP00000366245:S190L;ENSP00000344955:S138L;ENSP00000340330:S223L;ENSP00000434765:S171L;ENSP00000436000:S132L;ENSP00000436012:S184L	ENSP00000340330:S223L	S	+	2	0	KAT5	65237873	0.999000	0.42202	0.981000	0.43875	0.944000	0.59088	5.434000	0.66526	2.472000	0.83506	0.561000	0.74099	TCG	KAT5-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390867.1		+	ENST00000341318.4	Missense_Mutation	SNP	11 : 65481297 - 65481297 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	89	16
SLC17A6	57084	broad.mit.edu	37	11	22363311	22363311	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22363311C>T	ENST00000263160.3	+	2	761	c.324C>T	c.(322-324)ggC>ggT	p.G108G		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	108					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.G108G(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						ACCGCGGGGGCAAGGTCATCA	0.632		NA												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)											62	52	56			NA	NA	11		NA											NA				22363311		2203	4300	6503	SO:0001819	synonymous_variant			AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664	57084	57084		Solute carriers	16703	protein-coding gene	gene with protein product	vesicular glutamate transporter 2, differentiation-associated Na-dependent inorganic phosphate cotransporter	607563	solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6		NA	11306821	Standard	NM_020346	NM_020346	NA	Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.324C>T	11.37:g.22363311C>T		NA	A6NKS2	37	CCDS7856.1																																																																																			SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387671.1		+	ENST00000263160.3	Silent	SNP	11 : 22363311 - 22363311 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	67
GLTSCR1	29998	broad.mit.edu	37	19	48183836	48183836	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48183836A>G	ENST00000396720.3	+	6	1603	c.1409A>G	c.(1408-1410)aAc>aGc	p.N470S	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	470							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CCGGGCCAGAACCAGTTCCTA	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	22	20			NA	NA	19		NA											NA				48183836		2058	4184	6242	SO:0001583	missense			AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169	29998	29998			4332	protein-coding gene	gene with protein product		605690			NA	10708517	Standard	NM_015711	NM_015711	NA	Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.1409A>G	19.37:g.48183836A>G	ENSP00000379946:p.Asn470Ser	NA	A8MW01	37	CCDS46134.1	.	.	.	.	.	.	.	.	.	.	a	9.517	1.107398	0.20714	.	.	ENSG00000063169	ENST00000396720	T	0.56103	0.48	4.6	1.12	0.20585	.	.	.	.	.	T	0.37404	0.1002	L	0.42245	1.32	0.30381	N	0.781977	B	0.18310	0.027	B	0.16289	0.015	T	0.29971	-0.9994	9	0.31617	T	0.26	.	2.8672	0.05605	0.6258:0.1483:0.0831:0.1428	.	470	Q9NZM4	GSCR1_HUMAN	S	470	ENSP00000379946:N470S	ENSP00000379946:N470S	N	+	2	0	GLTSCR1	52875648	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	4.857000	0.62939	0.160000	0.19432	-0.494000	0.04653	AAC	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465846.1		+	ENST00000396720.3	Missense_Mutation	SNP	19 : 48183836 - 48183836 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	122	21
PMS1	5378	broad.mit.edu	37	2	190742119	190742119	+	Missense_Mutation	SNP	G	G	A	rs147566508	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190742119G>A	ENST00000441310.2	+	13	2989	c.2756G>A	c.(2755-2757)cGc>cAc	p.R919H	PMS1_ENST00000418224.3_Missense_Mutation_p.R743H|PMS1_ENST00000447232.2_Missense_Mutation_p.R757H|PMS1_ENST00000432292.3_Missense_Mutation_p.R743H|PMS1_ENST00000409823.3_Missense_Mutation_p.R880H	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	919					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			GTTCATGGTCGCCCATTTTTT	0.328		NA	Mis, N			colorectal, endometrial, ovarian		Direct reversal of damage;Mismatch excision repair (MMR)					G	2	9e-04	0.0041	NA	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	0.001	0.878	LOWCOV,EXOME	NA	NA	0.0015	SNP		yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)		E	0								G	HIS/ARG,HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	114	112	113		2756,2639,2270	5.8	1	2	dbSNP_134	113	0,8600		0,0,4300	yes	missense,missense,missense	PMS1	NM_000534.4,NM_001128143.1,NM_001128144.1	29,29,29	0,2,6501	AA,AG,GG	NA	0.0,0.0454,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	919/933,880/894,757/771	190742119	2,13004	2203	4300	6503	SO:0001583	missense				CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933	NA	5378			9121	protein-coding gene	gene with protein product		600258	postmeiotic segregation increased (S. cerevisiae) 1	PMSL1	NA	8072530	Standard		NM_000534	NA	Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.2756G>A	2.37:g.190742119G>A	ENSP00000406490:p.Arg919His	NA	D3DPI1	37	CCDS2302.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	17.78	3.472864	0.63737	4.54E-4	0.0	ENSG00000064933	ENST00000441310;ENST00000418224;ENST00000409823;ENST00000447232;ENST00000432292;ENST00000409593	D;D;D;D;D;D	0.97752	-2.89;-2.69;-3.08;-3.29;-2.69;-4.52	5.76	5.76	0.90799	.	0.101764	0.64402	D	0.000001	D	0.96568	0.8880	L	0.47190	1.495	0.45216	D	0.998228	B;D;D;D;D	0.57257	0.066;0.977;0.979;0.978;0.963	B;P;B;B;B	0.48654	0.01;0.585;0.363;0.299;0.363	D	0.96294	0.9216	10	0.87932	D	0	-6.5663	13.5255	0.61593	0.0713:0.0:0.9287:0.0	.	235;542;880;757;919	Q5FBZ4;Q5FBZ6;Q5FBZ3;Q5FBZ8;P54277	.;.;.;.;PMS1_HUMAN	H	919;743;880;757;743;542	ENSP00000406490:R919H;ENSP00000404492:R743H;ENSP00000387125:R880H;ENSP00000401064:R757H;ENSP00000398378:R743H;ENSP00000387169:R542H	ENSP00000387169:R542H	R	+	2	0	PMS1	190450364	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.657000	0.67996	2.882000	0.98803	0.655000	0.94253	CGC	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255918.2		+	ENST00000441310.2	Missense_Mutation	SNP	2 : 190742119 - 190742119 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	66
ZNF470	388566	broad.mit.edu	37	19	57088924	57088924	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57088924C>T	ENST00000330619.8	+	6	1813	c.1127C>T	c.(1126-1128)gCt>gTt	p.A376V	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.A376V	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TGTGGGAAAGCTTTCAGGCAG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	90	93			NA	NA	19		NA											NA				57088924		2203	4300	6503	SO:0001583	missense			AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016	388566	388566		Zinc fingers, C2H2-type, -	22220	protein-coding gene	gene with protein product					NA	15302581	Standard	NM_001001668	NM_001001668	NA	Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1127C>T	19.37:g.57088924C>T	ENSP00000333223:p.Ala376Val	NA	A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	37	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	-	7.775	0.708314	0.15239	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.19105	2.17;2.17	4.19	4.19	0.49359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12135	0.0295	N	0.10733	0.035	0.09310	N	1	P	0.43885	0.82	B	0.44224	0.444	T	0.05920	-1.0856	9	0.41790	T	0.15	.	5.8632	0.18760	0.0:0.6971:0.1981:0.1047	.	376	Q6ECI4	ZN470_HUMAN	V	376	ENSP00000375590:A376V;ENSP00000333223:A376V	ENSP00000333223:A376V	A	+	2	0	ZNF470	61780736	0.000000	0.05858	0.913000	0.36048	0.044000	0.14063	0.405000	0.21015	2.177000	0.69029	0.603000	0.83216	GCT	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459707.2		+	ENST00000330619.8	Missense_Mutation	SNP	19 : 57088924 - 57088924 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	26
TMEM132B	114795	broad.mit.edu	37	12	125834834	125834834	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125834834G>A	ENST00000299308.3	+	2	897	c.889G>A	c.(889-891)Gcc>Acc	p.A297T		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	297						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGGGGACACGGCCACCTTTTT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													191	181	184			NA	NA	12		NA											NA				125834834		1964	4134	6098	SO:0001583	missense			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02					114795	114795			29397	protein-coding gene	gene with protein product					NA	11572484	Standard	NM_052907	NM_001286219	NA	Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.889G>A	12.37:g.125834834G>A	ENSP00000299308:p.Ala297Thr	NA	A2RRG8|Q8NA73|Q96JN9|Q96PY1	37	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417556	0.62622	.	.	ENSG00000139364	ENST00000299308	T	0.11930	2.73	5.34	4.45	0.53987	.	.	.	.	.	T	0.14787	0.0357	L	0.50333	1.59	0.80722	D	1	B	0.20052	0.041	B	0.12156	0.007	T	0.02588	-1.1137	9	0.35671	T	0.21	.	13.9468	0.64089	0.0728:0.0:0.9272:0.0	.	297	Q14DG7	T132B_HUMAN	T	297	ENSP00000299308:A297T	ENSP00000299308:A297T	A	+	1	0	TMEM132B	124400787	1.000000	0.71417	0.986000	0.45419	0.988000	0.76386	5.483000	0.66838	1.250000	0.43966	0.655000	0.94253	GCC	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400043.1		+	ENST00000299308.3	Missense_Mutation	SNP	12 : 125834834 - 125834834 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1242	238
OTUD3	23252	broad.mit.edu	37	1	20216981	20216981	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20216981G>T	ENST00000375120.3	+	2	326	c.325G>T	c.(325-327)Gat>Tat	p.D109Y	OTUD3_ENST00000466697.1_3'UTR	NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3	109	OTU.									breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGCGGGAAGATTTTGAACC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													211	203	205			NA	NA	1		NA											NA				20216981		1979	4165	6144	SO:0001583	missense			AB007928	CCDS41279.1	1p36.13	2014-02-24	2014-02-24		ENSG00000169914	ENSG00000169914	23252	23252		OTU domain containing	29038	protein-coding gene	gene with protein product		611758	OTU domain containing 3		NA	9455484, 23827681	Standard		NM_015207	NA	Approved	KIAA0459, DUBA4	uc001bcs.4	Q5T2D3	OTTHUMG00000002696	ENST00000375120.3:c.325G>T	1.37:g.20216981G>T	ENSP00000364261:p.Asp109Tyr	NA	O75047	37	CCDS41279.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943063	0.53079	.	.	ENSG00000169914	ENST00000375120	T	0.43294	0.95	5.23	4.32	0.51571	Ovarian tumour, otubain (2);	0.045448	0.85682	D	0.000000	T	0.33818	0.0876	L	0.53671	1.685	0.58432	D	0.999999	B	0.22604	0.072	B	0.26517	0.07	T	0.12811	-1.0533	10	0.02654	T	1	.	11.2403	0.48966	0.0867:0.0:0.9133:0.0	.	109	Q5T2D3	OTUD3_HUMAN	Y	109	ENSP00000364261:D109Y	ENSP00000364261:D109Y	D	+	1	0	OTUD3	20089568	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.894000	0.92506	1.348000	0.45733	0.536000	0.68110	GAT	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007655.1		+	ENST00000375120.3	Missense_Mutation	SNP	1 : 20216981 - 20216981 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	751	170
SPTAN1	6709	broad.mit.edu	37	9	131365846	131365846	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131365846G>A	ENST00000372739.3	+	28	3714	c.3604G>A	c.(3604-3606)Gtg>Atg	p.V1202M	SPTAN1_ENST00000358161.5_Missense_Mutation_p.V1202M|SPTAN1_ENST00000372731.4_Missense_Mutation_p.V1202M	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1202					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGTTCACACCGTGGCCACCTT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(120;833 1744 2558 35612 37579)							NA				0													295	258	271			NA	NA	9		NA											NA				131365846		2203	4300	6503	SO:0001583	missense			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694	6709	6709		EF-hand domain containing	11273	protein-coding gene	gene with protein product	alpha-fodrin	182810			NA	3336352	Standard	NM_003127	NM_003127	NA	Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372739.3:c.3604G>A	9.37:g.131365846G>A	ENSP00000361824:p.Val1202Met	NA	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	37	CCDS48036.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680519	0.68042	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.53206	0.63;0.63;0.65	5.83	5.83	0.93111	.	0.113273	0.64402	D	0.000009	T	0.36690	0.0976	N	0.08118	0	0.51767	D	0.999939	P;P;P;P	0.49696	0.898;0.927;0.927;0.88	B;P;P;B	0.44359	0.143;0.447;0.447;0.26	T	0.38802	-0.9644	10	0.52906	T	0.07	.	20.1271	0.97986	0.0:0.0:1.0:0.0	.	1202;1182;1202;1202	A6NG51;Q13813-3;Q13813-2;Q13813	.;.;.;SPTA2_HUMAN	M	1202;1202;1202;1182	ENSP00000350882:V1202M;ENSP00000361816:V1202M;ENSP00000361824:V1202M	ENSP00000350882:V1202M	V	+	1	0	SPTAN1	130405667	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.790000	0.75115	2.758000	0.94735	0.563000	0.77884	GTG	SPTAN1-005	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054473.1		+	ENST00000372739.3	Missense_Mutation	SNP	9 : 131365846 - 131365846 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	895	155
SPIN1	10927	broad.mit.edu	37	9	91083296	91083296	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:91083296G>A	ENST00000375859.3	+	5	643	c.365G>A	c.(364-366)cGa>cAa	p.R122Q	SPIN1_ENST00000541629.1_Missense_Mutation_p.R122Q|SPIN1_ENST00000469017.2_3'UTR	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	122					cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						GCGACATCTCGAATCAGCGAT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	103	105			NA	NA	9		NA											NA				91083296		2166	4279	6445	SO:0001583	missense			AF317228	CCDS43843.1	9q22.1	2008-02-05	2007-01-03	2007-01-03	ENSG00000106723	ENSG00000106723	10927	10927			11243	protein-coding gene	gene with protein product		609936	spindlin	SPIN	NA	16098913	Standard	NM_006717	NM_006717	NA	Approved		uc004apy.3	Q9Y657	OTTHUMG00000020168	ENST00000375859.3:c.365G>A	9.37:g.91083296G>A	ENSP00000365019:p.Arg122Gln	NA	Q7KZJ8|Q9GZT2|Q9H0N7	37	CCDS43843.1	.	.	.	.	.	.	.	.	.	.	G	8.066	0.769194	0.15983	.	.	ENSG00000106723	ENST00000375859;ENST00000541629	T;T	0.39787	1.06;1.06	5.12	2.26	0.28386	.	0.241703	0.34411	N	0.003998	T	0.16811	0.0404	N	0.12920	0.275	0.58432	D	0.999997	D	0.55800	0.973	B	0.38683	0.279	T	0.32455	-0.9906	10	0.02654	T	1	-4.6556	7.4168	0.27048	0.1432:0.0:0.72:0.1368	.	122	Q9Y657	SPIN1_HUMAN	Q	122	ENSP00000365019:R122Q;ENSP00000441864:R122Q	ENSP00000365019:R122Q	R	+	2	0	SPIN1	90273116	1.000000	0.71417	0.997000	0.53966	0.926000	0.56050	7.326000	0.79133	0.318000	0.23185	-0.136000	0.14681	CGA	SPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052967.1		+	ENST00000375859.3	Missense_Mutation	SNP	9 : 91083296 - 91083296 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	229	39
ZNF546	339327	broad.mit.edu	37	19	40521033	40521033	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40521033G>A	ENST00000347077.4	+	7	2072	c.1856G>A	c.(1855-1857)cGa>cAa	p.R619Q	ZNF546_ENST00000600094.1_Missense_Mutation_p.R593Q|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	619					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R619Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAAGCCTTTCGATTTCAAACA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)						G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	45	48	47		1856	1.8	0.1	19		47	0,8600		0,0,4300	no	missense	ZNF546	NM_178544.3	43	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging	619/837	40521033	1,13005	2203	4300	6503	SO:0001583	missense			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187	339327	339327		Zinc fingers, C2H2-type, -	28671	protein-coding gene	gene with protein product				ZNF49	NA	12477932	Standard	NM_178544	XM_005258853	NA	Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.1856G>A	19.37:g.40521033G>A	ENSP00000339823:p.Arg619Gln	NA	A8K913	37	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	g	13.39	2.223971	0.39300	2.27E-4	0.0	ENSG00000187187	ENST00000347077;ENST00000392042	T	0.52754	0.65	2.91	1.82	0.25136	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43478	0.1249	N	0.26130	0.795	0.09310	N	1	D	0.76494	0.999	P	0.58331	0.837	T	0.17868	-1.0355	9	0.37606	T	0.19	.	3.904	0.09174	0.1318:0.0:0.6354:0.2327	.	619	Q86UE3	ZN546_HUMAN	Q	619;228	ENSP00000339823:R619Q	ENSP00000339823:R619Q	R	+	2	0	ZNF546	45212873	0.000000	0.05858	0.081000	0.20488	0.968000	0.65278	-2.640000	0.00865	0.744000	0.32741	0.591000	0.81541	CGA	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462495.2		+	ENST00000347077.4	Missense_Mutation	SNP	19 : 40521033 - 40521033 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	236	49
SNAPC4	6621	broad.mit.edu	37	9	139283031	139283031	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139283031C>T	ENST00000298532.2	-	10	1356	c.988G>A	c.(988-990)Gcc>Acc	p.A330T		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	330	HTH myb-type 1.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CACTGGAAGGCGCTGCGGCTG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	88	93			NA	NA	9		NA											NA				139283031		2203	4300	6503	SO:0001583	missense			AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684	6621	6621			11137	protein-coding gene	gene with protein product		602777	small nuclear RNA activating complex, polypeptide 4, 190kD		NA	9418884	Standard	NM_003086	XM_005266096	NA	Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.988G>A	9.37:g.139283031C>T	ENSP00000298532:p.Ala330Thr	NA	Q9Y6P7	37	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.653575	0.67472	.	.	ENSG00000165684	ENST00000298532	T	0.32515	1.45	5.0	4.04	0.47022	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.118118	0.56097	D	0.000036	T	0.57388	0.2050	M	0.83483	2.645	0.42751	D	0.99377	D	0.89917	1.0	D	0.80764	0.994	T	0.65034	-0.6266	10	0.66056	D	0.02	-27.2109	14.2545	0.66043	0.0:0.7444:0.2556:0.0	.	330	Q5SXM2	SNPC4_HUMAN	T	330	ENSP00000298532:A330T	ENSP00000298532:A330T	A	-	1	0	SNAPC4	138402852	0.971000	0.33674	0.996000	0.52242	0.564000	0.35744	2.302000	0.43637	2.327000	0.79052	0.561000	0.74099	GCC	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055071.1		-	ENST00000298532.2	Missense_Mutation	SNP	9 : 139283031 - 139283031 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	486	93
LAMA2	3908	broad.mit.edu	37	6	129687457	129687457	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129687457C>T	ENST00000421865.2	+	33	4860	c.4811C>T	c.(4810-4812)gCg>gTg	p.A1604V		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1604	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCGCTGCCTGCGCCATATAAA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	78	82			NA	NA	6		NA											NA				129687457		2203	4300	6503	SO:0001583	missense			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569	3908	3908		Laminins	6482	protein-coding gene	gene with protein product	merosin, congenital muscular dystrophy	156225		LAMM	NA	2185464, 8294519	Standard		NM_000426	NA	Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4811C>T	6.37:g.129687457C>T	ENSP00000400365:p.Ala1604Val	NA	Q14736|Q5VUM2|Q93022	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710739	0.30322	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.11063	2.81	5.05	4.18	0.49190	Laminin I (1);	0.125811	0.56097	N	0.000037	T	0.08223	0.0205	L	0.32530	0.975	0.37433	D	0.914102	D;D	0.67145	0.996;0.992	P;P	0.56700	0.804;0.772	T	0.24154	-1.0168	10	0.31617	T	0.26	.	11.8454	0.52381	0.0:0.919:0.0:0.081	.	1604;1604	A6NF00;P24043	.;LAMA2_HUMAN	V	1604	ENSP00000400365:A1604V	ENSP00000346769:A1604V	A	+	2	0	LAMA2	129729150	1.000000	0.71417	0.997000	0.53966	0.507000	0.33981	4.074000	0.57577	1.259000	0.44117	0.655000	0.94253	GCG	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042180.1		+	ENST00000421865.2	Missense_Mutation	SNP	6 : 129687457 - 129687457 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	277	57
MGLL	11343	broad.mit.edu	37	3	127454569	127454569	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127454569G>T	ENST00000398101.3	-	1	631	c.133C>A	c.(133-135)Ctg>Atg	p.L45M	MGLL_ENST00000453507.2_Intron|MGLL_ENST00000398104.1_Intron|MGLL_ENST00000434178.2_Intron|MGLL_ENST00000265052.5_Intron			Q99685	MGLL_HUMAN	monoglyceride lipase	0					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						TGGGTTTCCAGCACGTGCTCG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													205	199	201			NA	NA	3		NA											NA				127454569		876	1991	2867	SO:0001583	missense			BC000551	CCDS43148.1, CCDS46902.1, CCDS58852.1	3p13-q13.33	2014-03-14			ENSG00000074416	ENSG00000074416	11343	11343	3.1.1.23		17038	protein-coding gene	gene with protein product		609699			NA	9495531	Standard	NM_007283	NM_007283	NA	Approved	HU-K5, MGL	uc003ejx.4	Q99685	OTTHUMG00000159641	ENST00000398101.3:c.133C>A	3.37:g.127454569G>T	ENSP00000381173:p.Leu45Met	NA	Q96AA5	37		.	.	.	.	.	.	.	.	.	.	G	7.641	0.680861	0.14907	.	.	ENSG00000074416	ENST00000398101	.	.	.	2.69	-5.38	0.02673	.	.	.	.	.	T	0.27205	0.0667	.	.	.	0.09310	N	1	B	0.30824	0.296	B	0.33042	0.157	T	0.15378	-1.0439	7	0.35671	T	0.21	.	7.0227	0.24922	0.3044:0.5087:0.1869:0.0	.	45	E7EWX8	.	M	45	.	ENSP00000381173:L45M	L	-	1	2	MGLL	128937259	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.802000	0.04545	-2.373000	0.00600	0.313000	0.20887	CTG	MGLL-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000356720.1		-	ENST00000398101.3	Missense_Mutation	SNP	3 : 127454569 - 127454569 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	674	123
SERAC1	84947	broad.mit.edu	37	6	158569911	158569911	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158569911C>T	ENST00000367104.3	-	5	472	c.341G>A	c.(340-342)cGg>cAg	p.R114Q	SERAC1_ENST00000367102.2_Missense_Mutation_p.R114Q|SERAC1_ENST00000607000.1_Missense_Mutation_p.R114Q|SERAC1_ENST00000367101.1_Missense_Mutation_p.R114Q	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	114					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		AAATGGATTCCGCAGTATCTT	0.338		NA											C	0	0	NA	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0	0	EXOME	NA	NA	2e-04	SNP								NA				0													157	125	136			NA	NA	6		NA											NA				158569911		2203	4300	6503	SO:0001583	missense			BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335	84947	84947			21061	protein-coding gene	gene with protein product		614725			NA		Standard	NM_032861	NM_032861	NA	Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.341G>A	6.37:g.158569911C>T	ENSP00000356071:p.Arg114Gln	NA	Q49AT1|Q5VTX3|Q6PKF3	37	CCDS5255.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	8.225	0.803387	0.16397	.	.	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000367101	T;T;T	0.63417	-0.04;-0.04;-0.04	5.61	0.821	0.18799	.	0.420066	0.27219	N	0.020379	T	0.36276	0.0961	M	0.68317	2.08	0.18873	N	0.999982	B	0.20671	0.047	B	0.10450	0.005	T	0.36040	-0.9764	10	0.28530	T	0.3	-3.3088	9.8395	0.40991	0.0:0.6572:0.0:0.3428	.	114	Q96JX3	SRAC1_HUMAN	Q	114	ENSP00000356069:R114Q;ENSP00000356071:R114Q;ENSP00000356068:R114Q	ENSP00000356068:R114Q	R	-	2	0	SERAC1	158489899	0.686000	0.27661	0.081000	0.20488	0.354000	0.29330	0.546000	0.23284	1.379000	0.46325	0.585000	0.79938	CGG	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042862.1		-	ENST00000367104.3	Missense_Mutation	SNP	6 : 158569911 - 158569911 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	206	33
RBM47	54502	broad.mit.edu	37	4	40440520	40440520	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40440520G>T	ENST00000381793.2	-	3	787	c.391C>A	c.(391-393)Ctc>Atc	p.L131I	RBM47_ENST00000514014.1_Missense_Mutation_p.L93I|RBM47_ENST00000295971.7_Missense_Mutation_p.L131I|RBM47_ENST00000381795.6_Missense_Mutation_p.L131I|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000319592.4_Missense_Mutation_p.L131I			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	131	RRM 1.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TAGTTGTTGAGCTCACGCACT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	48	51			NA	NA	4		NA											NA				40440520		2203	4300	6503	SO:0001583	missense			AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694	54502	54502		RNA binding motif (RRM) containing	30358	protein-coding gene	gene with protein product					NA		Standard	NM_019027	NM_019027	NA	Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.391C>A	4.37:g.40440520G>T	ENSP00000371212:p.Leu131Ile	NA	A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	37	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219834	0.79464	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014;ENST00000515053;ENST00000513473;ENST00000505414;ENST00000514782	T;T;T;T;T;T;T;T;T	0.57436	1.75;0.4;1.75;0.4;0.4;1.75;0.4;0.4;0.4	5.44	5.44	0.79542	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.72137	0.3423	M	0.65975	2.015	0.80722	D	1	D;P	0.61697	0.99;0.933	D;D	0.72982	0.979;0.928	T	0.73414	-0.3990	10	0.59425	D	0.04	-25.2838	19.2511	0.93926	0.0:0.0:1.0:0.0	.	131;131	A0AV96-2;A0AV96	.;RBM47_HUMAN	I	131;131;131;131;93;131;131;131;131	ENSP00000320108:L131I;ENSP00000371212:L131I;ENSP00000371214:L131I;ENSP00000295971:L131I;ENSP00000423243:L93I;ENSP00000422564:L131I;ENSP00000421589:L131I;ENSP00000423527:L131I;ENSP00000426542:L131I	ENSP00000295971:L131I	L	-	1	0	RBM47	40135277	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	7.888000	0.87302	2.554000	0.86153	0.313000	0.20887	CTC	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250456.2		-	ENST00000381793.2	Missense_Mutation	SNP	4 : 40440520 - 40440520 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	382	27
SEMA6A	57556	broad.mit.edu	37	5	115814375	115814375	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:115814375C>A	ENST00000343348.6	-	13	2077	c.1290G>T	c.(1288-1290)ggG>ggT	p.G430G	SEMA6A_ENST00000510263.1_Silent_p.G430G|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000257414.8_Silent_p.G430G	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	430	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TCTGATATGGCCCAGCAGCTG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	76	77			NA	NA	5		NA											NA				115814375		1897	4113	6010	SO:0001819	synonymous_variant			AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421		57556	57556		Semaphorins	10738	protein-coding gene	gene with protein product	sema VIa	605885		SEMAQ	NA	9204478, 10993894	Standard	NM_020796	XM_006714663	NA	Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.1290G>T	5.37:g.115814375C>A		NA	Q9P2H9	37	CCDS47256.1																																																																																			SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000371270.1		-	ENST00000343348.6	Silent	SNP	5 : 115814375 - 115814375 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	173	25
INTS10	55174	broad.mit.edu	37	8	19675132	19675132	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19675132G>A	ENST00000397977.3	+	1	482	c.84G>A	c.(82-84)tgG>tgA	p.W28*	INTS10_ENST00000521758.1_3'UTR	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	28					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		CCAAGGCGTGGCTGATCACGG	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	23	20			NA	NA	8		NA											NA				19675132		2060	4210	6270	SO:0001587	stop_gained			AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613	55174	55174			25548	protein-coding gene	gene with protein product		611353	chromosome 8 open reading frame 35	C8orf35	NA	16239144	Standard	NM_018142	XM_005273558	NA	Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.84G>A	8.37:g.19675132G>A	ENSP00000381064:p.Trp28*	NA	Q6IA93|Q7L538|Q7L8C8|Q9H3W8	37	CCDS6011.2	.	.	.	.	.	.	.	.	.	.	G	42	9.770182	0.99259	.	.	ENSG00000104613	ENST00000397977	.	.	.	5.23	5.23	0.72850	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.2863	17.7262	0.88366	0.0:0.0:1.0:0.0	.	.	.	.	X	28	.	ENSP00000381064:W28X	W	+	3	0	INTS10	19719412	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.541000	0.90644	2.598000	0.87819	0.563000	0.77884	TGG	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253724.2		+	ENST00000397977.3	Nonsense_Mutation	SNP	8 : 19675132 - 19675132 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	76	6
MAGEL2	54551	broad.mit.edu	37	15	23890438	23890438	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23890438G>A	ENST00000532292.1	-	1	737	c.643C>T	c.(643-645)Cca>Tca	p.P215S		NM_019066.4	NP_061939.3			MAGE-like 2	NA										breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AGAGCATATGGCAGTGACTTT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	68	67			NA	NA	15		NA											NA				23890438		1988	4181	6169	SO:0001583	missense			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585	54551	54551			6814	protein-coding gene	gene with protein product		605283		NDNL1	NA	10556298	Standard	NM_019066	NM_019066	NA	Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.643C>T	15.37:g.23890438G>A	ENSP00000433433:p.Pro215Ser	NA		37																																																																																				MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000395182.2		-	ENST00000532292.1	Missense_Mutation	SNP	15 : 23890438 - 23890438 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	408	77
UTRN	7402	broad.mit.edu	37	6	144780066	144780066	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144780066G>A	ENST00000367545.3	+	19	2445	c.2445G>A	c.(2443-2445)aaG>aaA	p.K815K		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	815	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGGTCATCAAGACAAAGGAGG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	55	54			NA	NA	6		NA											NA				144780066		2202	4300	6502	SO:0001819	synonymous_variant			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818	7402	7402			12635	protein-coding gene	gene with protein product		128240	utrophin (homologous to dystrophin)	DMDL	NA	1426262	Standard		NM_007124	NA	Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.2445G>A	6.37:g.144780066G>A		NA	Q5SZ57	37	CCDS34547.1																																																																																			UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042551.1		+	ENST00000367545.3	Silent	SNP	6 : 144780066 - 144780066 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	269	50
SPTB	6710	broad.mit.edu	37	14	65249188	65249188	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65249188G>A	ENST00000556626.1	-	20	4228	c.4086C>T	c.(4084-4086)gaC>gaT	p.D1362D	SPTB_ENST00000389722.3_Silent_p.D1362D|SPTB_ENST00000389721.5_Silent_p.D1362D|SPTB_ENST00000389720.3_Silent_p.D1362D|SPTB_ENST00000542895.1_Silent_p.D1362D			P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1362					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCTGCAGCTCGTCCCAGAGCC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	109	108			NA	NA	14		NA											NA				65249188		2203	4300	6503	SO:0001819	synonymous_variant				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182	6710	6710		Pleckstrin homology (PH) domain containing	11274	protein-coding gene	gene with protein product	spherocytosis, clinical type I	182870			NA	2209094	Standard		NM_001024858	NA	Approved		uc001xhr.3	P11277		ENST00000556626.1:c.4086C>T	14.37:g.65249188G>A		NA	Q15510|Q15519	37	CCDS32099.1																																																																																			SPTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414076.1		-	ENST00000556626.1	Silent	SNP	14 : 65249188 - 65249188 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1020	181
LRBA	987	broad.mit.edu	37	4	151837610	151837610	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151837610T>C	ENST00000510413.1	-	7	1121	c.837A>G	c.(835-837)atA>atG	p.I279M	LRBA_ENST00000535741.1_Missense_Mutation_p.I279M|LRBA_ENST00000507224.1_Missense_Mutation_p.I279M|LRBA_ENST00000357115.3_Missense_Mutation_p.I279M	NM_001199282.2	NP_001186211.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	279						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTTTTGACTTTATTGATGTTA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	66	68			NA	NA	4		NA											NA				151837610		2203	4300	6503	SO:0001583	missense			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589	987	987		WD repeat domain containing	1742	protein-coding gene	gene with protein product		606453		CDC4L	NA	1505956, 11254716	Standard		NM_006726	NA	Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000510413.1:c.837A>G	4.37:g.151837610T>C	ENSP00000421552:p.Ile279Met	NA	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	37	CCDS58928.1	.	.	.	.	.	.	.	.	.	.	T	11.40	1.626892	0.28978	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74	5.45	4.24	0.50183	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.063284	0.64402	D	0.000006	T	0.64249	0.2581	N	0.03608	-0.345	0.39855	D	0.973295	P;D;P	0.53619	0.934;0.961;0.573	P;D;B	0.63283	0.789;0.913;0.392	T	0.63042	-0.6725	10	0.23302	T	0.38	.	8.4306	0.32755	0.1305:0.0:0.1366:0.733	.	279;279;279	E9PEM5;P50851;P50851-2	.;LRBA_HUMAN;.	M	279	ENSP00000446299:I279M;ENSP00000421552:I279M;ENSP00000349629:I279M;ENSP00000422180:I279M	ENSP00000349629:I279M	I	-	3	3	LRBA	152057060	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.715000	0.37971	0.974000	0.38366	0.374000	0.22700	ATA	LRBA-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364938.1		-	ENST00000510413.1	Missense_Mutation	SNP	4 : 151837610 - 151837610 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	179	9
MAPKBP1	23005	broad.mit.edu	37	15	42116688	42116688	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42116688C>T	ENST00000457542.2	+	30	4506	c.4220C>T	c.(4219-4221)gCg>gTg	p.A1407V	MAPKBP1_ENST00000514566.1_Missense_Mutation_p.A1130V|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.A1413V|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.A1290V|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.A1246V	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1413										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TCAGAGCCAGCGGTGAGCCTG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	33	34			NA	NA	15		NA											NA				42116688		2199	4296	6495	SO:0001583	missense			AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802	23005	23005		WD repeat domain containing	29536	protein-coding gene	gene with protein product			mitogen activated protein kinase binding protein 1		NA	9628581, 10471813	Standard	NM_014994	NM_014994	NA	Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000457542.2:c.4220C>T	15.37:g.42116688C>T	ENSP00000397570:p.Ala1407Val	NA	A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	37	CCDS32201.1	.	.	.	.	.	.	.	.	.	.	.	10.78	1.448093	0.26074	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.41400	1.18;1.34;1.0;1.22;1.3	5.06	-3.72	0.04411	.	0.774545	0.11970	N	0.511842	T	0.19005	0.0456	N	0.15975	0.35	0.09310	N	1	B;B;B;B;B;B	0.12013	0.0;0.003;0.0;0.0;0.005;0.004	B;B;B;B;B;B	0.10450	0.001;0.005;0.001;0.001;0.003;0.004	T	0.12863	-1.0531	10	0.33940	T	0.23	-0.479	3.9825	0.09501	0.0955:0.373:0.1026:0.4289	.	1246;1288;1246;1130;1413;1407	F8WC21;O60336-3;B4DYK7;O60336-2;O60336;O60336-6	.;.;.;.;MABP1_HUMAN;.	V	1407;1290;1246;1413;1130	ENSP00000397570:A1407V;ENSP00000221214:A1290V;ENSP00000260357:A1246V;ENSP00000393099:A1413V;ENSP00000426154:A1130V	ENSP00000221214:A1290V	A	+	2	0	MAPKBP1	39903980	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.042000	0.12063	-0.616000	0.05671	-1.278000	0.01390	GCG	MAPKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359744.1		+	ENST00000457542.2	Missense_Mutation	SNP	15 : 42116688 - 42116688 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	68	13
CAPN3	825	broad.mit.edu	37	15	42695010	42695010	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42695010C>T	ENST00000397163.3	+	13	1774	c.1555C>T	c.(1555-1557)Cac>Tac	p.H519Y	CAPN3_ENST00000349748.3_Missense_Mutation_p.H471Y|CAPN3_ENST00000357568.3_Missense_Mutation_p.H519Y|CAPN3_ENST00000356316.3_Missense_Mutation_p.H432Y|CAPN3_ENST00000318023.7_Missense_Mutation_p.H519Y|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000397200.4_Missense_Mutation_p.H7Y	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	519	Domain III.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		GAACAAGCAGCACCTGCAGAA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	75	83			NA	NA	15		NA											NA				42695010		2203	4299	6502	SO:0001583	missense			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	825	825	3.4.22.52	EF-hand domain containing	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A	NA	2555341, 7720071	Standard		NM_024344	NA	Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.1555C>T	15.37:g.42695010C>T	ENSP00000380349:p.His519Tyr	NA	A6H8K6|Q9BTU4|Q9Y5S6|Q9Y5S7	37	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.538072	0.85917	.	.	ENSG00000092529	ENST00000356316;ENST00000337522;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023;ENST00000397200	D;D;D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26;-2.26;-2.26	4.87	4.87	0.63330	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.000000	0.85682	U	0.000000	D	0.93360	0.7883	M	0.77820	2.39	0.80722	D	1	D;D;D;D;D;D	0.76494	0.997;0.997;0.996;0.999;0.999;0.993	D;D;D;D;D;D	0.72338	0.961;0.961;0.935;0.962;0.977;0.952	D	0.94129	0.7386	10	0.87932	D	0	.	18.1939	0.89814	0.0:1.0:0.0:0.0	.	384;432;471;519;519;432	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	Y	432;7;519;519;471;519;7	ENSP00000348667:H432Y;ENSP00000380349:H519Y;ENSP00000350181:H519Y;ENSP00000183936:H471Y;ENSP00000326281:H519Y;ENSP00000380384:H7Y	ENSP00000326281:H519Y	H	+	1	0	CAPN3	40482302	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.584000	0.82572	2.527000	0.85204	0.455000	0.32223	CAC	CAPN3-009	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421075.1		+	ENST00000397163.3	Missense_Mutation	SNP	15 : 42695010 - 42695010 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	364	51
ZCRB1	85437	broad.mit.edu	37	12	42706924	42706924	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:42706924C>T	ENST00000266529.3	-	8	782	c.599G>A	c.(598-600)cGc>cAc	p.R200H	PPHLN1_ENST00000549190.1_Intron|ZCRB1_ENST00000552673.1_Missense_Mutation_p.R159H	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1	200					mRNA processing	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		TATCCTTGGGCGTCTTGAATC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	123	129			NA	NA	12		NA											NA				42706924		2203	4300	6503	SO:0001583	missense			BC022543	CCDS8740.1	12q12	2013-02-12				ENSG00000139168	85437	85437		Zinc fingers, CCHC domain containing, RNA binding motif (RRM) containing	29620	protein-coding gene	gene with protein product	U11/U12 snRNP 31K	610750			NA	15146077, 16959469	Standard	NM_033114	NM_033114	NA	Approved	MADP-1, MADP1, RBM36, ZCCHC19, SNRNP31	uc001rmz.3	Q8TBF4	OTTHUMG00000169382	ENST00000266529.3:c.599G>A	12.37:g.42706924C>T	ENSP00000266529:p.Arg200His	NA	Q6PJX0|Q96TA6	37	CCDS8740.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506193	0.85282	.	.	ENSG00000139168	ENST00000266529;ENST00000552673	T;T	0.51817	2.45;0.69	5.48	5.48	0.80851	.	0.098903	0.64402	D	0.000002	T	0.59569	0.2203	L	0.59436	1.845	0.47476	D	0.999437	D	0.71674	0.998	P	0.52710	0.707	T	0.63084	-0.6716	10	0.72032	D	0.01	-7.2678	19.3636	0.94453	0.0:1.0:0.0:0.0	.	200	Q8TBF4	ZCRB1_HUMAN	H	200;159	ENSP00000266529:R200H;ENSP00000446732:R159H	ENSP00000266529:R200H	R	-	2	0	ZCRB1	40993191	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.128000	0.64733	2.573000	0.86826	0.655000	0.94253	CGC	ZCRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403813.1		-	ENST00000266529.3	Missense_Mutation	SNP	12 : 42706924 - 42706924 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	207	10
CELSR3	1951	broad.mit.edu	37	3	48682471	48682471	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48682471G>T	ENST00000164024.4	-	25	8249	c.7969C>A	c.(7969-7971)Ctg>Atg	p.L2657M	CELSR3_ENST00000544264.1_Missense_Mutation_p.L2662M	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2657					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCCTCACCCAGCAGCACAGCA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	35	34			NA	NA	3		NA											NA				48682471		2201	4297	6498	SO:0001583	missense			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300	1951	1951		Cadherins / Major cadherins, -, GPCR / Class B : Orphans	3230	protein-coding gene	gene with protein product	flamingo homolog 1 (Drosophila)	604264	cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog	EGFL1	NA	9693030	Standard	NM_001407	NM_001407	NA	Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.7969C>A	3.37:g.48682471G>T	ENSP00000164024:p.Leu2657Met	NA	O75092	37	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365189	0.61513	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.47177	0.85;0.85	5.15	2.17	0.27698	GPCR, family 2-like (1);	.	.	.	.	T	0.42944	0.1225	N	0.20986	0.625	0.27077	N	0.963176	D;D	0.64830	0.994;0.988	P;P	0.62491	0.903;0.9	T	0.23619	-1.0183	9	0.36615	T	0.2	.	1.2483	0.01977	0.1901:0.1252:0.4207:0.264	.	2657;2754	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	M	2657;2662	ENSP00000164024:L2657M;ENSP00000445694:L2662M	ENSP00000164024:L2657M	L	-	1	2	CELSR3	48657475	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	2.228000	0.42981	0.555000	0.29079	-0.339000	0.08088	CTG	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257523.1		-	ENST00000164024.4	Missense_Mutation	SNP	3 : 48682471 - 48682471 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	205	31
ZNF750	79755	broad.mit.edu	37	17	80788752	80788752	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80788752G>T	ENST00000269394.3	-	3	2271	c.1438C>A	c.(1438-1440)Ctc>Atc	p.L480I	TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Splice_Site_p.L81I	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	480						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ACAACATTGAGGCTAGAAGAA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	32	30			NA	NA	17		NA											NA				80788752		2130	4188	6318	SO:0001630	splice_region_variant			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579	79755	79755			25843	protein-coding gene	gene with protein product		610226			NA	16751772	Standard	NM_024702	NM_024702	NA	Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.1437-1C>A	17.37:g.80788752G>T		NA	Q9H899	37	CCDS11819.1	.	.	.	.	.	.	.	.	.	.	G	5.398	0.258545	0.10239	.	.	ENSG00000141579	ENST00000269394;ENST00000543850	T	0.14266	2.52	4.75	3.71	0.42584	.	0.226724	0.30528	N	0.009436	T	0.09512	0.0234	L	0.41079	1.255	0.28812	N	0.898152	B	0.26602	0.154	B	0.23716	0.048	T	0.09596	-1.0667	9	.	.	.	-20.9973	5.1242	0.14876	0.1122:0.0:0.5721:0.3158	.	480	Q32MQ0	ZN750_HUMAN	I	480;81	ENSP00000269394:L480I	.	L	-	1	0	ZNF750	78382041	1.000000	0.71417	0.969000	0.41365	0.262000	0.26303	1.466000	0.35310	2.197000	0.70478	0.655000	0.94253	CTC	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000439074.2	Missense_Mutation	-	ENST00000269394.3	Splice_Site	SNP	17 : 80788752 - 80788752 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	396	84
DHX37	57647	broad.mit.edu	37	12	125437016	125437016	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125437016G>A	ENST00000544745.1	-	18	2266	c.2157C>T	c.(2155-2157)ggC>ggT	p.G719G	DHX37_ENST00000308736.2_Silent_p.G932G			Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	932							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GGTCCCCCAGGCCTGCCGTCA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	45	49			NA	NA	12		NA											NA				125437016		2203	4300	6503	SO:0001819	synonymous_variant			AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990	57647	57647		DEAH-boxes	17210	protein-coding gene	gene with protein product			DEAD/DEAH box helicase DDX37	DDX37	NA	10819331	Standard	NM_032656	NM_032656	NA	Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000544745.1:c.2157C>T	12.37:g.125437016G>A		NA	Q9BUI7|Q9P211	37																																																																																				DHX37-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000400197.1		-	ENST00000544745.1	Silent	SNP	12 : 125437016 - 125437016 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	190	24
PNPT1	87178	broad.mit.edu	37	2	55874502	55874502	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55874502G>A	ENST00000447944.2	-	19	1668	c.1582C>T	c.(1582-1584)Cgt>Tgt	p.R528C		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	528					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GTCAGCAAACGATAATCTTCT	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	96	95			NA	NA	2		NA											NA				55874502		2203	4300	6503	SO:0001583	missense			BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035	87178	87178			23166	protein-coding gene	gene with protein product	polynucleotide phosphorylase, 3'-5' RNA exonuclease	610316	deafness, autosomal recessive 70	DFNB70	NA	12419256	Standard	NM_033109	NM_033109	NA	Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.1582C>T	2.37:g.55874502G>A	ENSP00000400646:p.Arg528Cys	NA	Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	37	CCDS1856.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486391	0.63962	.	.	ENSG00000138035	ENST00000447944	T	0.44083	0.93	5.54	5.54	0.83059	Exoribonuclease, phosphorolytic domain 2 (2);	0.000000	0.85682	D	0.000000	T	0.47838	0.1467	L	0.55481	1.735	0.80722	D	1	P	0.44090	0.826	B	0.43701	0.428	T	0.50206	-0.8855	10	0.66056	D	0.02	-5.3929	19.831	0.96636	0.0:0.0:1.0:0.0	.	528	Q8TCS8	PNPT1_HUMAN	C	528	ENSP00000400646:R528C	ENSP00000386075:R528C	R	-	1	0	PNPT1	55728006	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.270000	0.72563	2.755000	0.94549	0.563000	0.77884	CGT	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251481.2		-	ENST00000447944.2	Missense_Mutation	SNP	2 : 55874502 - 55874502 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	658	92
APOB	338	broad.mit.edu	37	2	21238318	21238318	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21238318G>A	ENST00000233242.1	-	22	3559	c.3432C>T	c.(3430-3432)gcC>gcT	p.A1144A		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1144					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GAAGCAGTTTGGCAGGCGACC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	131	138			NA	NA	2		NA											NA				21238318		2203	4300	6503	SO:0001819	synonymous_variant			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674	338	338		Apolipoproteins	603	protein-coding gene	gene with protein product		107730	apolipoprotein B (including Ag(x) antigen)		NA		Standard		NM_000384	NA	Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.3432C>T	2.37:g.21238318G>A		NA	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	37	CCDS1703.1																																																																																			APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207571.1		-	ENST00000233242.1	Silent	SNP	2 : 21238318 - 21238318 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	466	80
ZNF628	89887	broad.mit.edu	37	19	55995125	55995125	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55995125G>A	ENST00000598519.1	+	3	3118	c.2565G>A	c.(2563-2565)caG>caA	p.Q855Q	ZNF628_ENST00000391718.2_Silent_p.Q851Q			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	851	4 X approximate tandem repeats.					nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CCACGGTCCAGCTCCAGCCAG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	56	54			NA	NA	19		NA											NA				55995125		2203	4299	6502	SO:0001819	synonymous_variant			AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483	89887	89887		Zinc fingers, C2H2-type	28054	protein-coding gene	gene with protein product	Zinc finger expressed in Embryonal cells and Certain adult organs	610671			NA		Standard	XM_058964	NM_033113	NA	Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.2565G>A	19.37:g.55995125G>A		NA	Q86X34	37	CCDS33116.3																																																																																			ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317934.2		+	ENST00000598519.1	Silent	SNP	19 : 55995125 - 55995125 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	364	82
TRIM40	135644	broad.mit.edu	37	6	30114887	30114887	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30114887G>A	ENST00000396581.1	+	4	953	c.567G>A	c.(565-567)gcG>gcA	p.A189A	TRIM40_ENST00000307859.4_Silent_p.A160A|TRIM40_ENST00000376724.2_Silent_p.A189A			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	189						intracellular	zinc ion binding			ovary(1)	1						CAGCAGAAGCGGCCAGAATCC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	68	71			NA	NA	6		NA											NA				30114887		2203	4300	6503	SO:0001819	synonymous_variant			AF489517	CCDS4675.1, CCDS69069.1	6p21.31	2013-01-09	2011-01-25		ENSG00000204614	ENSG00000204614	135644	135644		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	18736	protein-coding gene	gene with protein product			tripartite motif-containing 40		NA		Standard		NM_138700	NA	Approved	RNF35	uc003npm.2	Q6P9F5	OTTHUMG00000031083	ENST00000396581.1:c.567G>A	6.37:g.30114887G>A		NA	Q5SS36|Q8TD96	37																																																																																				TRIM40-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000076117.2		+	ENST00000396581.1	Silent	SNP	6 : 30114887 - 30114887 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	357	77
DZIP1L	199221	broad.mit.edu	37	3	137783593	137783593	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:137783593C>T	ENST00000327532.2	-	15	2381	c.2019G>A	c.(2017-2019)tcG>tcA	p.S673S		NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	673						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						TTTTGACCATCGACTGCACCA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	157	153			NA	NA	3		NA											NA				137783593		2203	4300	6503	SO:0001819	synonymous_variant			AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163	199221	199221			26551	protein-coding gene	gene with protein product			DAZ interacting protein 1-like		NA	12477932	Standard	NM_173543	NM_173543	NA	Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.2019G>A	3.37:g.137783593C>T		NA	C9JUG5|Q96M38	37	CCDS3096.1	.	.	.	.	.	.	.	.	.	.	C	0.042	-1.281852	0.01398	.	.	ENSG00000158163	ENST00000486487	.	.	.	4.93	-9.57	0.00562	.	.	.	.	.	T	0.31136	0.0787	.	.	.	0.30303	N	0.789263	.	.	.	.	.	.	T	0.33266	-0.9875	4	.	.	.	-4.4106	9.158	0.37005	0.0:0.1371:0.3222:0.5406	.	.	.	.	N	43	.	.	D	-	1	0	DZIP1L	139266283	0.002000	0.14202	0.059000	0.19551	0.067000	0.16453	-2.142000	0.01298	-1.733000	0.01357	-0.794000	0.03295	GAT	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357548.1		-	ENST00000327532.2	Silent	SNP	3 : 137783593 - 137783593 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1509	264
ASCC3	10973	broad.mit.edu	37	6	101075801	101075801	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:101075801T>C	ENST00000369162.2	-	28	4782	c.4438A>G	c.(4438-4440)Aca>Gca	p.T1480A		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1480	Helicase ATP-binding 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GGCTTTTCTGTGTGTGATGAG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	109	110			NA	NA	6		NA											NA				101075801		2203	4300	6503	SO:0001583	missense			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249	10973	10973			18697	protein-coding gene	gene with protein product	RNA helicase family	614217	helicase, ATP binding 1	HELIC1	NA	10218103	Standard	NM_006828	NM_006828	NA	Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.4438A>G	6.37:g.101075801T>C	ENSP00000358159:p.Thr1480Ala	NA	O43738|Q5VTN2|Q9H1I9|Q9NTR0	37	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.600735	0.87055	.	.	ENSG00000112249	ENST00000369162	T	0.58060	0.36	6.17	6.17	0.99709	DEAD-like helicase (2);ATPase, AAA+ type, core (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62134	0.2403	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59397	-0.7462	10	0.33940	T	0.23	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1480	Q8N3C0	HELC1_HUMAN	A	1480	ENSP00000358159:T1480A	ENSP00000358159:T1480A	T	-	1	0	ASCC3	101182522	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	ACA	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041632.2		-	ENST00000369162.2	Missense_Mutation	SNP	6 : 101075801 - 101075801 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	269	54
POLR1A	25885	broad.mit.edu	37	2	86266459	86266459	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86266459G>T	ENST00000263857.6	-	26	4245	c.3867C>A	c.(3865-3867)tgC>tgA	p.C1289*	POLR1A_ENST00000409681.1_Nonsense_Mutation_p.C1289*			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1289					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CCTCCCCCAAGCACACCCTGG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													194	196	195			NA	NA	2		NA											NA				86266459		1961	4156	6117	SO:0001587	stop_gained			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654	25885	25885		RNA polymerase subunits	17264	protein-coding gene	gene with protein product					NA	9236775	Standard	NM_015425	NM_015425	NA	Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.3867C>A	2.37:g.86266459G>T	ENSP00000263857:p.Cys1289*	NA	B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	37	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	G	45	11.307215	0.99545	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	.	.	.	5.26	4.39	0.52855	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-24.0429	14.2295	0.65882	0.0724:0.0:0.9276:0.0	.	.	.	.	X	1289	.	ENSP00000263857:C1289X	C	-	3	2	POLR1A	86119970	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	3.664000	0.54525	1.373000	0.46208	0.655000	0.94253	TGC	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329830.2		-	ENST00000263857.6	Nonsense_Mutation	SNP	2 : 86266459 - 86266459 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1397	211
ATG7	10533	broad.mit.edu	37	3	11340278	11340278	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:11340278G>A	ENST00000354449.3	+	2	134	c.109G>A	c.(109-111)Gag>Aag	p.E37K	ATG7_ENST00000469654.2_3'UTR|ATG7_ENST00000354956.5_Missense_Mutation_p.E37K|ATG7_ENST00000446450.2_Missense_Mutation_p.E37K	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	37					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						GAAGCTGAACGAGTATCGGCT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													196	183	188			NA	NA	3		NA											NA				11340278		2203	4300	6503	SO:0001583	missense			AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548	10533	10533		Ubiquitin-like modifier activating enzymes	16935	protein-coding gene	gene with protein product	ubiquitin-activating enzyme E1-like protein	608760	APG7 autophagy 7-like (S. cerevisiae), ATG7 autophagy related 7 homolog (S. cerevisiae)	APG7L	NA	10233149	Standard	NM_006395	NM_006395	NA	Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.109G>A	3.37:g.11340278G>A	ENSP00000346437:p.Glu37Lys	NA	Q7L8L0|Q9BWP2|Q9UFH4	37	CCDS2605.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161692	0.78226	.	.	ENSG00000197548	ENST00000451513;ENST00000435760;ENST00000451830;ENST00000444619;ENST00000446450;ENST00000354956;ENST00000354449;ENST00000419112;ENST00000423116	T;T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	6.17	6.17	0.99709	.	0.055781	0.64402	D	0.000001	T	0.29491	0.0735	L	0.33485	1.01	0.80722	D	1	P;B;B	0.46952	0.887;0.373;0.162	B;B;B	0.34242	0.178;0.073;0.033	T	0.16247	-1.0409	10	0.07325	T	0.83	-30.8945	20.4745	0.99168	0.0:0.0:1.0:0.0	.	37;37;37	E9PB95;O95352-2;O95352	.;.;ATG7_HUMAN	K	37	ENSP00000415223:E37K;ENSP00000390547:E37K;ENSP00000411880:E37K;ENSP00000389996:E37K;ENSP00000412580:E37K;ENSP00000347042:E37K;ENSP00000346437:E37K;ENSP00000408303:E37K;ENSP00000416644:E37K	ENSP00000346437:E37K	E	+	1	0	ATG7	11315278	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.382000	0.79729	2.941000	0.99782	0.655000	0.94253	GAG	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251951.3		+	ENST00000354449.3	Missense_Mutation	SNP	3 : 11340278 - 11340278 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	902	138
RGS12	6002	broad.mit.edu	37	4	3318679	3318679	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3318679G>A	ENST00000382788.3	+	1	885	c.782G>A	c.(781-783)cGc>cAc	p.R261H	RGS12_ENST00000336727.3_Missense_Mutation_p.R261H|RGS12_ENST00000344733.5_Missense_Mutation_p.R261H|RGS12_ENST00000543385.1_Missense_Mutation_p.R261H			O14924	RGS12_HUMAN	regulator of G-protein signaling 12	261	PID.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGCATGCGGCGCCTGCGGGCA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	37	37			NA	NA	4		NA											NA				3318679		2203	4300	6503	SO:0001583	missense			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788	6002	6002		Regulators of G-protein signaling	9994	protein-coding gene	gene with protein product		602512	regulator of G-protein signalling 12		NA	9651375	Standard	NM_002926	NM_198229	NA	Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000382788.3:c.782G>A	4.37:g.3318679G>A	ENSP00000372238:p.Arg261His	NA	B1AQ30|B1AQ31|B1AQ32|O14922|O14923|O43510|O75338	37	CCDS3367.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244640	0.79912	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	T;T;T;T	0.23552	1.9;2.51;2.51;2.51	4.39	4.39	0.52855	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.53433	0.1796	M	0.81239	2.535	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.97;0.988	T	0.62158	-0.6913	10	0.87932	D	0	-30.3977	15.9516	0.79843	0.0:0.0:1.0:0.0	.	261;261;261	Q8WX97;O14924;O14924-4	.;RGS12_HUMAN;.	H	261	ENSP00000440566:R261H;ENSP00000339381:R261H;ENSP00000338509:R261H;ENSP00000372238:R261H	ENSP00000338509:R261H	R	+	2	0	RGS12	3288477	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.417000	0.73337	1.989000	0.58080	0.491000	0.48974	CGC	RGS12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206603.1		+	ENST00000382788.3	Missense_Mutation	SNP	4 : 3318679 - 3318679 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	71
AATK	9625	broad.mit.edu	37	17	79094040	79094040	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79094040C>T	ENST00000326724.4	-	11	3720	c.3696G>A	c.(3694-3696)gtG>gtA	p.V1232V	AATK_ENST00000417379.1_Silent_p.V1129V	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1232						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CGAAGAAGGACACGGCCTTCT	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	32	31			NA	NA	17		NA											NA				79094040		2096	4212	6308	SO:0001819	synonymous_variant			AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409	9625	9625			21	protein-coding gene	gene with protein product	lemur tyrosine kinase 1, protein phosphatase 1, regulatory subunit 77	605276			NA	9734811, 10083745	Standard	NM_004920	NM_001080395	NA	Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.3696G>A	17.37:g.79094040C>T		NA	O75136|Q6ZN31|Q86X28	37	CCDS45807.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.270195	0.23221	.	.	ENSG00000181409	ENST00000417379	.	.	.	3.98	0.325	0.15903	.	.	.	.	.	T	0.51058	0.1652	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40001	-0.9586	4	.	.	.	.	5.1513	0.15011	0.1341:0.5377:0.2393:0.0889	.	.	.	.	Y	1185	.	.	C	-	2	0	AATK	76708635	0.996000	0.38824	0.998000	0.56505	0.881000	0.50899	0.446000	0.21694	0.305000	0.22832	0.313000	0.20887	TGT	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256055.1		-	ENST00000326724.4	Silent	SNP	17 : 79094040 - 79094040 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	227	26
LY6E	4061	broad.mit.edu	37	8	144102804	144102804	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144102804C>T	ENST00000523847.1	+	3	217	c.126C>T	c.(124-126)tcC>tcT	p.S42S	LY6E_ENST00000292494.6_Silent_p.S42S|LY6E_ENST00000522971.1_Silent_p.S42S|LY6E_ENST00000520531.1_Silent_p.S42S|LY6E_ENST00000522024.1_Silent_p.S42S|LY6E_ENST00000519611.1_Silent_p.S42S|LY6E_ENST00000521003.1_Silent_p.S42S|LY6E_ENST00000520466.1_Silent_p.S42S|LY6E_ENST00000521182.1_Nonsense_Mutation_p.R31*|LY6E_ENST00000519546.1_Silent_p.S42S|LY6E_ENST00000521699.1_Silent_p.S42S|LY6E_ENST00000429120.2_Silent_p.S42S|LY6E_ENST00000517503.1_Nonsense_Mutation_p.R137*|LY6E_ENST00000522528.1_Nonsense_Mutation_p.R31*			Q16553	LY6E_HUMAN	lymphocyte antigen 6 complex, locus E	42	UPAR/Ly6.				cell surface receptor linked signaling pathway	anchored to membrane|integral to plasma membrane				endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7	all_cancers(97;1.94e-10)|all_epithelial(106;1.22e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CCATCTGCTCCGACCAGGACA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	118	125			NA	NA	8		NA											NA				144102804		2203	4300	6503	SO:0001819	synonymous_variant			U42376	CCDS6394.1	8q24	2008-08-07				ENSG00000160932	4061	4061			6727	protein-coding gene	gene with protein product	retinoic acid induced gene E	601384			NA	8757598, 8650192	Standard	NM_001127213	NM_001127213	NA	Approved	TSA-1, RIG-E, SCA-2	uc003yxm.2	Q16553		ENST00000523847.1:c.126C>T	8.37:g.144102804C>T		NA	B2R4X5|D3DWJ2|Q0VDE5	37		.	.	.	.	.	.	.	.	.	.	c	8.332	0.826660	0.16749	.	.	ENSG00000160932	ENST00000522528;ENST00000521182	.	.	.	3.49	-6.98	0.01611	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-1.6254	0.8457	0.01161	0.2107:0.1548:0.3134:0.3211	.	.	.	.	X	31	.	ENSP00000430770:R31X	R	+	1	2	LY6E	144174179	0.000000	0.05858	0.000000	0.03702	0.219000	0.24729	-3.481000	0.00456	-2.749000	0.00375	-0.793000	0.03317	CGA	LY6E-014	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000380115.1		+	ENST00000523847.1	Silent	SNP	8 : 144102804 - 144102804 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	410	22
TAF1L	138474	broad.mit.edu	37	9	32633981	32633981	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32633981G>A	ENST00000242310.4	-	1	1686	c.1597C>T	c.(1597-1599)Cct>Tct	p.P533S	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	533					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTCTCATCAGGAATTTCCAAA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	134	135			NA	NA	9		NA											NA				32633981		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.1597C>T	9.37:g.32633981G>A	ENSP00000418379:p.Pro533Ser	NA	Q0VG57	37	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937368	0.73557	.	.	ENSG00000122728	ENST00000242310	T	0.09350	2.99	1.16	1.16	0.20824	.	0.000000	0.85682	D	0.000000	T	0.28200	0.0696	M	0.76838	2.35	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	T	0.01771	-1.1277	10	0.66056	D	0.02	.	8.1579	0.31180	0.0:0.0:1.0:0.0	.	533	Q8IZX4	TAF1L_HUMAN	S	533	ENSP00000418379:P533S	ENSP00000418379:P533S	P	-	1	0	TAF1L	32623981	1.000000	0.71417	0.996000	0.52242	0.789000	0.44602	2.187000	0.42602	0.507000	0.28148	0.195000	0.17529	CCT	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052012.2		-	ENST00000242310.4	Missense_Mutation	SNP	9 : 32633981 - 32633981 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	792	124
L3HYPDH	112849	broad.mit.edu	37	14	59950867	59950867	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59950867C>A	ENST00000247194.4	-	1	281	c.168G>T	c.(166-168)caG>caT	p.Q56H	RP11-701B16.2_ENST00000554253.1_RNA	NM_144581.1	NP_653182.1			L-3-hydroxyproline dehydratase (trans-)	NA											NA						GGTCAAGGTGCTGGCGCATGT	0.701		NA									OREG0022712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	13	14			NA	NA	14		NA											NA				59950867		2125	4206	6331	SO:0001583	missense			AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	112849	112849	4.2.1.77		20488	protein-coding gene	gene with protein product	trans-L-3-hydroxyproline dehydratase	614811	chromosome 14 open reading frame 149	C14orf149	NA	22528483	Standard	NM_144581	NM_144581	NA	Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000247194.4:c.168G>T	14.37:g.59950867C>A	ENSP00000247194:p.Gln56His	1042		37	CCDS9739.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141889	0.77775	.	.	ENSG00000126790	ENST00000247194	T	0.17691	2.26	4.53	2.67	0.31697	.	0.111307	0.64402	D	0.000012	T	0.20129	0.0484	L	0.41492	1.28	0.80722	D	1	P;B	0.44877	0.845;0.393	P;P	0.51229	0.663;0.447	T	0.01363	-1.1374	10	0.72032	D	0.01	.	6.853	0.24024	0.0:0.6286:0.1883:0.1831	.	56;56	B4DGY8;Q96EM0	.;PRCM_HUMAN	H	56	ENSP00000247194:Q56H	ENSP00000247194:Q56H	Q	-	3	2	C14orf149	59020620	0.997000	0.39634	0.999000	0.59377	0.950000	0.60333	0.764000	0.26532	0.615000	0.30124	0.455000	0.32223	CAG	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000072254.5		-	ENST00000247194.4	Missense_Mutation	SNP	14 : 59950867 - 59950867 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	101	23
ANKRD17	26057	broad.mit.edu	37	4	73986015	73986015	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73986015A>G	ENST00000358602.4	-	21	4005	c.3889T>C	c.(3889-3891)Tat>Cat	p.Y1297H	ANKRD17_ENST00000509867.2_Missense_Mutation_p.Y1184H|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Missense_Mutation_p.Y1046H	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1297					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACCTCCGCATATCCACCAGAG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	77	79			NA	NA	4		NA											NA				73986015		2203	4300	6503	SO:0001583	missense			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466	26057	26057		Ankyrin repeat domain containing	23575	protein-coding gene	gene with protein product		615929			NA	11165478	Standard	NM_032217	NM_032217	NA	Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.3889T>C	4.37:g.73986015A>G	ENSP00000351416:p.Tyr1297His	NA	Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	A	17.81	3.480170	0.63849	.	.	ENSG00000132466	ENST00000358602;ENST00000330838;ENST00000509867	T;T;T	0.61742	0.08;0.08;0.08	5.68	5.68	0.88126	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000011	T	0.46014	0.1371	N	0.00859	-1.14	0.53688	D	0.999977	B;D;D;D;D	0.89917	0.384;0.999;0.999;0.999;1.0	P;D;D;D;D	0.91635	0.808;0.996;0.996;0.998;0.999	T	0.59182	-0.7502	10	0.13108	T	0.6	.	15.9332	0.79683	1.0:0.0:0.0:0.0	.	818;1296;1046;1297;1184	B4DR08;O75179-2;G5E964;O75179;E7EUV3	.;.;.;ANR17_HUMAN;.	H	1297;1046;1184	ENSP00000351416:Y1297H;ENSP00000332265:Y1046H;ENSP00000427151:Y1184H	ENSP00000332265:Y1046H	Y	-	1	0	ANKRD17	74204879	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.339000	0.96797	2.164000	0.68074	0.477000	0.44152	TAT	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362475.1		-	ENST00000358602.4	Missense_Mutation	SNP	4 : 73986015 - 73986015 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	342	70
ADHFE1	137872	broad.mit.edu	37	8	67364315	67364315	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67364315C>T	ENST00000396623.3	+	9	893	c.862C>T	c.(862-864)Cgg>Tgg	p.R288W	ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000379385.4_Missense_Mutation_p.R288W|ADHFE1_ENST00000415254.1_Missense_Mutation_p.R240W	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	288					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CCACGCGCTGCGGATCGTGGC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	81	87			NA	NA	8		NA											NA				67364315		2203	4300	6503	SO:0001583	missense			AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	137872	137872	1.1.99.24	Alcohol dehydrogenases	16354	protein-coding gene	gene with protein product	hydroxyacid-oxoacid transhydrogenase	611083			NA	12592711	Standard	NM_144650	NM_144650	NA	Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.862C>T	8.37:g.67364315C>T	ENSP00000379865:p.Arg288Trp	NA	B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	37	CCDS6190.2	.	.	.	.	.	.	.	.	.	.	c	15.99	2.996950	0.54147	.	.	ENSG00000147576	ENST00000379385;ENST00000396623;ENST00000415254	T;T;T	0.50548	0.74;0.74;0.74	5.52	0.228	0.15364	Alcohol dehydrogenase, iron-type (1);	0.293196	0.30771	N	0.008903	T	0.71126	0.3303	M	0.91612	3.225	0.22112	N	0.999358	D	0.65815	0.995	P	0.62382	0.901	T	0.71659	-0.4526	10	0.87932	D	0	-12.5708	16.6911	0.85322	0.6885:0.3115:0.0:0.0	.	288	Q8IWW8	HOT_HUMAN	W	288;288;240	ENSP00000368695:R288W;ENSP00000379865:R288W;ENSP00000407115:R240W	ENSP00000368695:R288W	R	+	1	2	ADHFE1	67526869	0.000000	0.05858	0.112000	0.21494	0.712000	0.41017	-0.659000	0.05323	-0.256000	0.09473	-0.194000	0.12790	CGG	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316867.3		+	ENST00000396623.3	Missense_Mutation	SNP	8 : 67364315 - 67364315 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	282	59
ACSL1	2180	broad.mit.edu	37	4	185678324	185678324	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:185678324A>C	ENST00000513317.1	-	21	2345	c.2052T>G	c.(2050-2052)taT>taG	p.Y684*	ACSL1_ENST00000454703.2_Nonsense_Mutation_p.Y513*|ACSL1_ENST00000437665.3_Nonsense_Mutation_p.Y513*|ACSL1_ENST00000507295.1_Nonsense_Mutation_p.Y650*|ACSL1_ENST00000281455.2_Nonsense_Mutation_p.Y684*|ACSL1_ENST00000504342.1_Nonsense_Mutation_p.Y684*|ACSL1_ENST00000515030.1_Nonsense_Mutation_p.Y684*			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	684					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCGACCTGAAATAGTTCCGCA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	144	144			NA	NA	4		NA											NA				185678324		2203	4300	6503	SO:0001587	stop_gained			BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	2180	2180	6.2.1.3	Acyl-CoA synthetase family	3569	protein-coding gene	gene with protein product	lignoceroyl-CoA synthase, long-chain fatty-acid-coenzyme A ligase 1	152425	fatty-acid-Coenzyme A ligase, long-chain 2	FACL2	NA	2341402, 1531127	Standard	NM_001995	XM_005262828	NA	Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000513317.1:c.2052T>G	4.37:g.185678324A>C	ENSP00000426150:p.Tyr684*	NA	D3DP57|P41215|Q8N8V7|Q8TA99	37		.	.	.	.	.	.	.	.	.	.	A	37	6.532420	0.97641	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000503407;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317	.	.	.	6.06	-0.957	0.10350	.	0.448180	0.28600	N	0.014769	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.0165	7.8838	0.29637	0.4554:0.1186:0.426:0.0	.	.	.	.	X	513;684;280;684;650;513;684;684	.	ENSP00000281455:Y684X	Y	-	3	2	ACSL1	185915318	0.999000	0.42202	0.996000	0.52242	0.998000	0.95712	0.666000	0.25097	0.171000	0.19730	0.533000	0.62120	TAT	ACSL1-007	NOVEL	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000361108.1		-	ENST00000513317.1	Nonsense_Mutation	SNP	4 : 185678324 - 185678324 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	629	27
FNDC3A	22862	broad.mit.edu	37	13	49762718	49762718	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49762718C>T	ENST00000492622.2	+	17	2198	c.1893C>T	c.(1891-1893)ggC>ggT	p.G631G	FNDC3A_ENST00000398316.3_Silent_p.G575G|FNDC3A_ENST00000541916.1_Silent_p.G631G	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	631	Fibronectin type-III 4.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TGAATCCAGGCTGTTTCTATC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													351	311	325			NA	NA	13		NA											NA				49762718		2203	4300	6503	SO:0001819	synonymous_variant			AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531	22862	22862		Fibronectin type III domain containing	20296	protein-coding gene	gene with protein product		615794	fibronectin type III domain containing 3	FNDC3	NA		Standard	NM_014923	NM_001079673	NA	Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.1893C>T	13.37:g.49762718C>T		NA	B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	37	CCDS41886.1																																																																																			FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354845.2		+	ENST00000492622.2	Silent	SNP	13 : 49762718 - 49762718 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1095	30
HNRNPUL2	221092	broad.mit.edu	37	11	62491420	62491420	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62491420C>A	ENST00000301785.5	-	3	909	c.717G>T	c.(715-717)gaG>gaT	p.E239D	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.E239D	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	239	B30.2/SPRY.|Glu-rich.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GATCCTCCTCCTCATCTTTTG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													193	184	187			NA	NA	11		NA											NA				62491420		1956	4148	6104	SO:0001583	missense				CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753	221092	221092			25451	protein-coding gene	gene with protein product				HNRPUL2	NA		Standard	XM_495877	NM_001079559	NA	Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.717G>T	11.37:g.62491420C>A	ENSP00000301785:p.Glu239Asp	NA	Q8N3B3	37	CCDS41659.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.621621	0.28889	.	.	ENSG00000214753	ENST00000301785	T	0.73047	-0.71	5.3	2.25	0.28309	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.218960	0.41396	D	0.000883	T	0.43809	0.1264	N	0.13198	0.31	0.30227	N	0.796265	P	0.38504	0.634	B	0.35510	0.204	T	0.37979	-0.9682	10	0.18276	T	0.48	-18.6698	4.4206	0.11479	0.0:0.5427:0.1645:0.2928	.	239	Q1KMD3	HNRL2_HUMAN	D	239	ENSP00000301785:E239D	ENSP00000301785:E239D	E	-	3	2	HNRNPUL2	62247996	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	0.207000	0.17395	0.743000	0.32719	0.655000	0.94253	GAG	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396208.2		-	ENST00000301785.5	Missense_Mutation	SNP	11 : 62491420 - 62491420 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	626	25
SCAF4	57466	broad.mit.edu	37	21	33043863	33043863	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:33043863C>T	ENST00000286835.7	-	20	3675	c.3293G>A	c.(3292-3294)aGc>aAc	p.S1098N	SCAF4_ENST00000399804.1_Missense_Mutation_p.S1076N|SCAF4_ENST00000434667.3_Missense_Mutation_p.S1083N	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	1098						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TCCCACTTGGCTAATGGGAGG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	143	146			NA	NA	21		NA											NA				33043863		2203	4300	6503	SO:0001583	missense			AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304	57466	57466		RNA binding motif (RRM) containing	19304	protein-coding gene	gene with protein product			splicing factor, arginine/serine-rich 15	SFRS15	NA	10574461	Standard	XM_047889	NM_020706	NA	Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.3293G>A	21.37:g.33043863C>T	ENSP00000286835:p.Ser1098Asn	NA	Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	37	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.170669	0.38315	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.23147	1.92;1.92;1.92	5.91	4.09	0.47781	.	0.249082	0.42172	N	0.000756	T	0.17023	0.0409	N	0.24115	0.695	0.33173	D	0.548566	P;B;B	0.35714	0.517;0.0;0.136	B;B;B	0.33454	0.164;0.002;0.124	T	0.17501	-1.0367	10	0.45353	T	0.12	-5.8717	11.6986	0.51558	0.0:0.8091:0.1245:0.0664	.	1083;1076;1098	C9JLZ0;O95104-2;O95104	.;.;SFR15_HUMAN	N	1083;1098;1076	ENSP00000402377:S1083N;ENSP00000286835:S1098N;ENSP00000382703:S1076N	ENSP00000286835:S1098N	S	-	2	0	SCAF4	31965734	0.857000	0.29778	0.978000	0.43139	0.887000	0.51463	2.003000	0.40844	0.823000	0.34589	0.655000	0.94253	AGC	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000192659.1		-	ENST00000286835.7	Missense_Mutation	SNP	21 : 33043863 - 33043863 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	607	122
EPHB4	2050	broad.mit.edu	37	7	100420043	100420043	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100420043C>T	ENST00000358173.3	-	4	1126	c.658G>A	c.(658-660)Gcc>Acc	p.A220T	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.A220T	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	220	Cys-rich.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CAGCTACCGGCCACGGGCACA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(200;2113 3072 25865 52728)							NA				0													31	33	32			NA	NA	7		NA											NA				100420043		2203	4298	6501	SO:0001583	missense			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411	2050	2050		EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3395	protein-coding gene	gene with protein product		600011	EphB4	HTK	NA	8188704	Standard	NM_004444	NM_004444	NA	Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.658G>A	7.37:g.100420043C>T	ENSP00000350896:p.Ala220Thr	NA	Q9BTA5|Q9BXP0	37	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887613	0.33348	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.73469	-0.75;-0.74	5.76	4.88	0.63580	.	0.000000	0.53938	D	0.000050	T	0.61751	0.2372	L	0.37850	1.14	0.30781	N	0.741949	B;B;P;P;P	0.40875	0.0;0.002;0.498;0.495;0.731	B;B;B;B;B	0.36464	0.0;0.001;0.115;0.169;0.225	T	0.67425	-0.5674	10	0.56958	D	0.05	.	8.5475	0.33430	0.0:0.7661:0.1522:0.0816	.	220;220;220;220;220	B5A972;B5A971;B5A970;Q96L35;P54760	.;.;.;.;EPHB4_HUMAN	T	220	ENSP00000353833:A220T;ENSP00000350896:A220T	ENSP00000350896:A220T	A	-	1	0	EPHB4	100257979	0.998000	0.40836	0.973000	0.42090	0.006000	0.05464	2.879000	0.48522	1.432000	0.47375	0.655000	0.94253	GCC	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347222.1		-	ENST00000358173.3	Missense_Mutation	SNP	7 : 100420043 - 100420043 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	68	16
HTT	3064	broad.mit.edu	37	4	3142376	3142376	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3142376A>C	ENST00000355072.5	+	22	3083	c.2938A>C	c.(2938-2940)Ata>Cta	p.I980L		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	980					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CGTCAGCACAATAACCAGGTA	0.443		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	4		NA											NA				3142376		2108	4240	6348	SO:0001583	missense			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386	3064	3064		Endogenous ligands	4851	protein-coding gene	gene with protein product		613004	huntingtin (Huntington disease)	HD	NA	8458085	Standard	NM_002111	NM_002111	NA	Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.2938A>C	4.37:g.3142376A>C	ENSP00000347184:p.Ile980Leu	NA	Q9UQB7	37	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	A	11.35	1.612991	0.28712	.	.	ENSG00000197386	ENST00000355072	T	0.63580	-0.05	4.97	1.25	0.21368	Armadillo-type fold (1);	0.047013	0.85682	D	0.000000	T	0.47728	0.1461	L	0.38175	1.15	0.46078	D	0.998853	B	0.21225	0.053	B	0.20184	0.028	T	0.35500	-0.9786	10	0.42905	T	0.14	.	9.0413	0.36319	0.8028:0.0:0.1972:0.0	.	980	P42858	HD_HUMAN	L	980	ENSP00000347184:I980L	ENSP00000347184:I980L	I	+	1	0	HTT	3112174	0.985000	0.35326	0.569000	0.28460	0.964000	0.63967	2.603000	0.46266	0.337000	0.23665	0.533000	0.62120	ATA	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358234.2		+	ENST00000355072.5	Missense_Mutation	SNP	4 : 3142376 - 3142376 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	51
SERPINF2	5345	broad.mit.edu	37	17	1657648	1657648	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1657648C>T	ENST00000324015.3	+	10	1373	c.1296C>T	c.(1294-1296)agC>agT	p.S432S	SERPINF2_ENST00000382061.4_Silent_p.S432S|SERPINF2_ENST00000450523.2_Silent_p.S368S	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	432					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	TCGTGGGCAGCGTGAGGAACC	0.622		NA											C	1	5e-04	NA	NA	2184	0.0017	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9049	EXOME	NA	NA	0.0022	SNP								NA				0													130	114	119			NA	NA	17		NA											NA				1657648		2203	4300	6503	SO:0001819	synonymous_variant			D00174	CCDS11011.1, CCDS54064.1	17p13.3	2014-02-18	2005-08-18		ENSG00000167711	ENSG00000167711	5345	5345		Serine (or cysteine) peptidase inhibitors	9075	protein-coding gene	gene with protein product	alpha-2-plasmin inhibitor, alpha-2-antiplasmin	613168	serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	PLI	NA	3416655, 24172014	Standard	NM_000934	NM_000934	NA	Approved	API, ALPHA-2-PI, A2AP, AAP	uc002ftk.1	P08697	OTTHUMG00000090552	ENST00000324015.3:c.1296C>T	17.37:g.1657648C>T		NA	Q8N5U7|Q9UCG2|Q9UCG3	37	CCDS11011.1																																																																																			SERPINF2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207078.3		+	ENST00000324015.3	Silent	SNP	17 : 1657648 - 1657648 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	861	148
INADL	10207	broad.mit.edu	37	1	62366960	62366960	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:62366960G>A	ENST00000371158.2	+	24	3324	c.3210G>A	c.(3208-3210)gaG>gaA	p.E1070E	INADL_ENST00000316485.6_Silent_p.E1070E	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1070	PDZ 6.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ATAGTGTTGAGATTTTTAGAG	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	90	88			NA	NA	1		NA											NA				62366960		2203	4300	6503	SO:0001819	synonymous_variant			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849	10207	10207			28881	protein-coding gene	gene with protein product		603199			NA	9280290, 11374908	Standard	NM_170605	NM_176877	NA	Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.3210G>A	1.37:g.62366960G>A		NA	O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	37	CCDS617.2																																																																																			INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000023639.2		+	ENST00000371158.2	Silent	SNP	1 : 62366960 - 62366960 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	39
PHLPP1	23239	broad.mit.edu	37	18	60645587	60645587	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:60645587C>T	ENST00000262719.5	+	17	4311	c.4077C>T	c.(4075-4077)tcC>tcT	p.S1359S	PHLPP1_ENST00000400316.4_Silent_p.S847S			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1359	PP2C-like.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						ACGTGCAGTCCGTGCTCCTGA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4322		0,0,2161	38	43	41		4077	-9.5	0.1	18		41	2,8514		0,2,4256	no	coding-synonymous	PHLPP1	NM_194449.2		0,2,6417	TT,TC,CC	NA	0.0235,0.0,0.0156		1359/1718	60645587	2,12836	2161	4258	6419	SO:0001819	synonymous_variant			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913	23239	23239		Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent, Pleckstrin homology (PH) domain containing	20610	protein-coding gene	gene with protein product		609396	pleckstrin homology domain containing, family E (with leucine rich repeats) member 1, PH domain and leucine rich repeat protein phosphatase	PLEKHE1, PHLPP	NA	10570941, 15808505	Standard	NM_194449	NM_194449	NA	Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.4077C>T	18.37:g.60645587C>T		NA	A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	37	CCDS45881.2																																																																																			PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319249.2		+	ENST00000262719.5	Silent	SNP	18 : 60645587 - 60645587 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	93	19
IFT46	56912	broad.mit.edu	37	11	118428591	118428591	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118428591G>A	ENST00000264020.2	-	4	437	c.60C>T	c.(58-60)ggC>ggT	p.G20G	IFT46_ENST00000264021.3_Intron|IFT46_ENST00000530872.1_Silent_p.G20G	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	15					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						CCTGTGGCATGCCCTCCCTTA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	164	165			NA	NA	11		NA											NA				118428591		2200	4295	6495	SO:0001819	synonymous_variant			AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096	56912	56912		Intraflagellar transport homologs	26146	protein-coding gene	gene with protein product	cilia and flagella associated protein 32		chromosome 11 open reading frame 60, intraflagellar transport 46 homolog (Chlamydomonas)	C11orf60	NA	10873569, 19253336	Standard	NM_020153	NM_020153	NA	Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264020.2:c.60C>T	11.37:g.118428591G>A		NA	A8K0F6|Q9H6V5	37	CCDS8399.1																																																																																			IFT46-013	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389628.1		-	ENST00000264020.2	Silent	SNP	11 : 118428591 - 118428591 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	869	189
OR51D1	390038	broad.mit.edu	37	11	4661207	4661207	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4661207C>T	ENST00000357605.2	+	1	263	c.187C>T	c.(187-189)Cgt>Tgt	p.R63C		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTCATCATTCGTGTGGAGAG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	195	146	163		187	3	0.1	11		163	0,8596		0,0,4298	no	missense	OR51D1	NM_001004751.2	180	0,1,6498	TT,TC,CC	NA	0.0,0.0227,0.0077	possibly-damaging	63/325	4661207	1,12997	2201	4298	6499	SO:0001583	missense			AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428	390038	390038		GPCR / Class A : Olfactory receptors	15193	protein-coding gene	gene with protein product					NA		Standard	NM_001004751	NM_001004751	NA	Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.187C>T	11.37:g.4661207C>T	ENSP00000350222:p.Arg63Cys	NA	B9EIK4	37	CCDS31357.1	.	.	.	.	.	.	.	.	.	.	C	7.762	0.705514	0.15172	2.27E-4	0.0	ENSG00000197428	ENST00000357605	T	0.02103	4.45	4.84	2.95	0.34219	GPCR, rhodopsin-like superfamily (1);	0.151118	0.31199	N	0.008062	T	0.02767	0.0083	L	0.48218	1.51	0.26647	N	0.972176	D	0.53462	0.96	P	0.45913	0.497	T	0.42344	-0.9457	10	0.40728	T	0.16	.	3.5858	0.07970	0.2943:0.4799:0.1431:0.0827	.	63	Q8NGF3	O51D1_HUMAN	C	63	ENSP00000350222:R63C	ENSP00000350222:R63C	R	+	1	0	OR51D1	4617783	0.000000	0.05858	0.106000	0.21319	0.002000	0.02628	-0.294000	0.08309	0.728000	0.32382	0.563000	0.77884	CGT	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385956.1		+	ENST00000357605.2	Missense_Mutation	SNP	11 : 4661207 - 4661207 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	405	81
VARS	7407	broad.mit.edu	37	6	31749699	31749699	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31749699G>A	ENST00000375663.3	-	19	2712	c.2272C>T	c.(2272-2274)Cgc>Tgc	p.R758C	VARS_ENST00000482996.1_5'UTR|VARS_ENST00000444930.2_3'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	758					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GCCTCATTGCGTCCACTCACC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	144	138			NA	NA	6		NA											NA				31749699		1511	2709	4220	SO:0001583	missense			BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	7407	7407	6.1.1.9	Aminoacyl tRNA synthetases / Class I	12651	protein-coding gene	gene with protein product	valine tRNA ligase 1, cytoplasmic	192150	valyl-tRNA synthetase 2	VARS2	NA	15779907	Standard	NM_006295	XM_005249362	NA	Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.2272C>T	6.37:g.31749699G>A	ENSP00000364815:p.Arg758Cys	NA	B0V1N1|Q5JQ90|Q96E77|Q9UQM2	37	CCDS34412.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.40|12.40	1.928076|1.928076	0.34002|0.34002	.|.	.|.	ENSG00000204394|ENSG00000204394	ENST00000375663|ENST00000428445	T|.	0.22743|.	1.94|.	5.51|5.51	4.62|4.62	0.57501|0.57501	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);|.	0.162696|.	0.52532|.	D|.	0.000074|.	D|D	0.82527|0.82527	0.5056|0.5056	H|H	0.95004|0.95004	3.61|3.61	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.79784|.	0.993|.	D|D	0.87826|0.87826	0.2641|0.2641	10|5	0.87932|.	D|.	0|.	-15.5475|-15.5475	13.9063|13.9063	0.63839|0.63839	0.0:0.1538:0.8462:0.0|0.0:0.1538:0.8462:0.0	.|.	758|.	P26640|.	SYVC_HUMAN|.	C|M	758|75	ENSP00000364815:R758C|.	ENSP00000364815:R758C|.	R|T	-|-	1|2	0|0	VARS|VARS	31857678|31857678	0.973000|0.973000	0.33851|0.33851	0.998000|0.998000	0.56505|0.56505	0.703000|0.703000	0.40648|0.40648	1.445000|1.445000	0.35079|0.35079	1.290000|1.290000	0.44636|0.44636	0.563000|0.563000	0.77884|0.77884	CGC|ACG	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076619.2		-	ENST00000375663.3	Missense_Mutation	SNP	6 : 31749699 - 31749699 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	969	206
INTS1	26173	broad.mit.edu	37	7	1525106	1525106	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1525106C>A	ENST00000404767.3	-	23	3062		c.e23-1		INTS1_ENST00000389470.4_Missense_Mutation_p.Q1154H	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	NA					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCGACAAACCCTGTGGCAGAC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	30	28			NA	NA	7		NA											NA				1525106		2052	4182	6234	SO:0001630	splice_region_variant			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880	26173	26173			24555	protein-coding gene	gene with protein product		611345			NA	16239144	Standard		NM_001080453	NA	Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.2977-1G>T	7.37:g.1525106C>A		NA	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	37	CCDS47526.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.13|13.13	2.143877|2.143877	0.37825|0.37825	.|.	.|.	ENSG00000164880|ENSG00000164880	ENST00000404767|ENST00000389470	.|T	.|0.46451	.|0.87	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	.|.	.|.	.|.	.|.	.|T	.|0.57446	.|0.2054	.|.	.|.	.|.	0.37569|0.37569	D|D	0.919357|0.919357	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.60944	.|-0.7162	.|5	.|.	.|.	.|.	.|.	18.3337|18.3337	0.90280|0.90280	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|H	-1|1154	.|ENSP00000374121:Q1154H	.|.	.|Q	-|-	.|3	.|2	INTS1|INTS1	1491632|1491632	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.059000|0.059000	0.15707|0.15707	7.268000|7.268000	0.78473|0.78473	2.334000|2.334000	0.79466|0.79466	0.561000|0.561000	0.74099|0.74099	.|CAG	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323683.1	Intron	-	ENST00000404767.3	Splice_Site	SNP	7 : 1525106 - 1525106 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	172	28
CDH23	64072	broad.mit.edu	37	10	73569753	73569753	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73569753C>T	ENST00000224721.6	+	60	8919	c.8914C>T	c.(8914-8916)Cgt>Tgt	p.R2972C	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.R727C	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2967	Cadherin 27.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GATCCCCGACCGTGTGCGCGG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	95	95			NA	NA	10		NA											NA				73569753		2119	4210	6329	SO:0001583	missense			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736	64072	64072		Cadherins / Cadherin-related	13733	protein-coding gene	gene with protein product	cadherin-related family member 23	605516	cadherin related 23, cadherin-like 23	DFNB12, USH1D	NA	11090341	Standard	NM_052836	NM_022124	NA	Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.8914C>T	10.37:g.73569753C>T	ENSP00000224721:p.Arg2972Cys	NA	C4IXS9|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	37		.	.	.	.	.	.	.	.	.	.	C	14.89	2.670997	0.47781	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.57752	0.38	5.82	4.91	0.64330	Cadherin (1);	0.287586	0.27725	N	0.018109	T	0.37348	0.1000	L	0.36672	1.1	0.54753	D	0.999987	D;D	0.58620	0.983;0.978	B;B	0.39027	0.288;0.226	T	0.32851	-0.9891	10	0.62326	D	0.03	.	7.2417	0.26100	0.288:0.6299:0.0:0.0821	.	2967;2967	E9PEX1;Q9H251	.;CAD23_HUMAN	C	2972;2967;2970;727	ENSP00000381768:R727C	ENSP00000224721:R2972C	R	+	1	0	CDH23	73239759	0.993000	0.37304	0.995000	0.50966	0.693000	0.40251	1.256000	0.32921	2.759000	0.94783	0.549000	0.68633	CGT	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000051227.4		+	ENST00000224721.6	Missense_Mutation	SNP	10 : 73569753 - 73569753 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	556	101
CSMD1	64478	broad.mit.edu	37	8	2832035	2832035	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:2832035C>T	ENST00000520002.1	-	57	9236	c.8681G>A	c.(8680-8682)gGc>gAc	p.G2894D	CSMD1_ENST00000537824.1_Missense_Mutation_p.G2893D|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2894D|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2835D|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2836D|CSMD1_ENST00000602723.1_Missense_Mutation_p.G2836D			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2894	Sushi 21.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CGTGTCGTTGCCTATGAGGCT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	55	54			NA	NA	8		NA											NA				2832035		2019	4185	6204	SO:0001583	missense					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117	64478	64478		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	14026	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 24	608397			NA		Standard	NM_033225	NM_033225	NA	Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8681G>A	8.37:g.2832035C>T	ENSP00000430733:p.Gly2894Asp	NA	Q0H0J5|Q96QU9|Q96RM4	37		.	.	.	.	.	.	.	.	.	.	C	17.10	3.302160	0.60195	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.66	4.79	0.61399	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.89504	0.6734	H	0.97315	3.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;0.999	D	0.92904	0.6342	10	0.72032	D	0.01	.	14.7098	0.69222	0.0:0.9304:0.0:0.0696	.	2894;2894;2835	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	D	2836;2894;2755;2893;2835	ENSP00000383047:G2836D;ENSP00000430733:G2894D;ENSP00000441462:G2893D;ENSP00000446243:G2835D	ENSP00000320445:G2755D	G	-	2	0	CSMD1	2819442	1.000000	0.71417	0.138000	0.22173	0.003000	0.03518	7.642000	0.83385	1.387000	0.46486	0.655000	0.94253	GGC	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000374500.2		-	ENST00000520002.1	Missense_Mutation	SNP	8 : 2832035 - 2832035 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	151	23
ELOF1	84337	broad.mit.edu	37	19	11664626	11664626	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11664626C>A	ENST00000589171.1	-	4	388	c.192G>T	c.(190-192)caG>caT	p.Q64H	ELOF1_ENST00000591674.1_Splice_Site|ELOF1_ENST00000252445.3_Splice_Site|ELOF1_ENST00000591912.1_3'UTR|ELOF1_ENST00000590700.1_Splice_Site|ELOF1_ENST00000586120.1_Splice_Site|ELOF1_ENST00000587806.1_Splice_Site|ELOF1_ENST00000586683.1_Intron			P60002	ELOF1_HUMAN	elongation factor 1 homolog (S. cerevisiae)	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.?(1)		endometrium(3)|lung(2)	5						TCTGACAGATCTGGGCCACTT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Unknown(1)	lung(1)											93	86	88			NA	NA	19		NA											NA				11664626		2203	4300	6503	SO:0001583	missense			AK001171	CCDS12264.1	19p13.2	2008-02-05	2006-02-13			ENSG00000130165	84337	84337			28691	protein-coding gene	gene with protein product			elongation factor 1 homolog (ELF1, S. cerevisiae)		NA	12477932	Standard	NM_032377	NM_032377	NA	Approved	MGC4549, ELF1	uc002mse.1	P60002		ENST00000589171.1:c.192G>T	19.37:g.11664626C>A	ENSP00000466732:p.Gln64His	NA	Q8R1J7|Q96II4	37		.	.	.	.	.	.	.	.	.	.	C	5.541	0.284702	0.10513	.	.	ENSG00000130165	ENST00000252445	.	.	.	4.9	1.52	0.23074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.2736	0.15638	0.162:0.6613:0.0:0.1767	.	.	.	.	.	-1	.	.	.	-	.	.	ELOF1	11525626	1.000000	0.71417	0.719000	0.30619	0.003000	0.03518	5.084000	0.64462	0.122000	0.18314	-0.277000	0.10078	.	ELOF1-005	PUTATIVE	non_canonical_TEC|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000458866.1		-	ENST00000589171.1	Missense_Mutation	SNP	19 : 11664626 - 11664626 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	464	99
ARIH1	25820	broad.mit.edu	37	15	72875582	72875582	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72875582G>T	ENST00000379887.4	+	14	1937	c.1623G>T	c.(1621-1623)caG>caT	p.Q541H	ARIH1_ENST00000562891.1_3'UTR	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	541					ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						TTTTGTTACAGCATGTGCATG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	117	119			NA	NA	15		NA											NA				72875582		2198	4297	6495	SO:0001583	missense			AF072832	CCDS10244.1	15q24	2013-10-03	2013-10-03		ENSG00000166233	ENSG00000166233	25820	25820			689	protein-coding gene	gene with protein product	ariadne, Drosophila, homolog of	605624	ariadne (Drosophila) homolog, ubiquitin-conjugating enzyme E2-binding protein, 1, ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)		NA	10521492, 24058416	Standard	NM_005744	NM_005744	NA	Approved	HARI, HHARI, UBCH7BP, ARI	uc002aut.4	Q9Y4X5	OTTHUMG00000133474	ENST00000379887.4:c.1623G>T	15.37:g.72875582G>T	ENSP00000369217:p.Gln541His	NA	B2R6U3|O76026|Q9H3T6|Q9UEN0|Q9UP39	37	CCDS10244.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713107	0.48517	.	.	ENSG00000166233	ENST00000379887;ENST00000299305	D	0.86562	-2.14	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.83220	0.5207	L	0.31926	0.97	0.80722	D	1	P	0.39424	0.673	B	0.40982	0.345	D	0.84533	0.0634	10	0.62326	D	0.03	.	14.8637	0.70399	0.0:0.0:0.8565:0.1435	.	541	Q9Y4X5	ARI1_HUMAN	H	541;511	ENSP00000369217:Q541H	ENSP00000299305:Q511H	Q	+	3	2	ARIH1	70662636	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.242000	0.72376	2.763000	0.94921	0.650000	0.86243	CAG	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257350.1		+	ENST00000379887.4	Missense_Mutation	SNP	15 : 72875582 - 72875582 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	610	97
APLP1	333	broad.mit.edu	37	19	36360568	36360568	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36360568G>T	ENST00000586861.1	+	1	194	c.129G>T	c.(127-129)caG>caT	p.Q43H	APLP1_ENST00000537454.2_Splice_Site|APLP1_ENST00000221891.4_Splice_Site			P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	49					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTTCCATCCAGGCCCCGGGGT	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	19	18			NA	NA	19		NA											NA				36360568		2201	4297	6498	SO:0001583	missense			U48437	CCDS32997.1	19q	2008-07-15					333	333			597	protein-coding gene	gene with protein product	amyloid-like protein 1, amyloid precursor-like protein 1	104775			NA	8432545	Standard	NM_001024807	NM_001024807	NA	Approved	APLP	uc002ocf.3	P51693		ENST00000586861.1:c.129G>T	19.37:g.36360568G>T	ENSP00000465694:p.Gln43His	NA	O00113|Q96A92	37		.	.	.	.	.	.	.	.	.	.	G	14.06	2.422922	0.43020	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.778	0.63066	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	APLP1	41052408	1.000000	0.71417	0.920000	0.36463	0.463000	0.32649	4.287000	0.59001	2.309000	0.77851	0.561000	0.74099	.	APLP1-003	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000452566.2		+	ENST00000586861.1	Missense_Mutation	SNP	19 : 36360568 - 36360568 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	224	62
BPTF	2186	broad.mit.edu	37	17	65924474	65924474	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65924474C>T	ENST00000306378.6	+	16	5815	c.5755C>T	c.(5755-5757)Cga>Tga	p.R1919*	BPTF_ENST00000335221.5_Nonsense_Mutation_p.R2045*|BPTF_ENST00000321892.4_Nonsense_Mutation_p.R2045*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.R1906*	NM_182641.3	NP_872579.2	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2045					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTTTAGAAACGACTGGAGCA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	43	44			NA	NA	17		NA											NA				65924474		2203	4300	6503	SO:0001587	stop_gained			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634	2186	2186		Zinc fingers, PHD-type	3581	protein-coding gene	gene with protein product		601819	fetal Alzheimer antigen	FALZ	NA	8975731, 10662542, 16728976	Standard	NM_182641, NM_004459	NM_182641	NA	Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000306378.6:c.5755C>T	17.37:g.65924474C>T	ENSP00000307208:p.Arg1919*	NA	Q6NX67|Q7Z7D6|Q9UIG2	37	CCDS11673.1	.	.	.	.	.	.	.	.	.	.	C	44	10.770991	0.99464	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3055	20.4024	0.99000	0.0:1.0:0.0:0.0	.	.	.	.	X	1919;2045;2045	.	ENSP00000307208:R1919X	R	+	1	2	BPTF	63354936	1.000000	0.71417	0.998000	0.56505	0.147000	0.21601	7.412000	0.80091	2.827000	0.97445	0.650000	0.86243	CGA	BPTF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255334.2		+	ENST00000306378.6	Nonsense_Mutation	SNP	17 : 65924474 - 65924474 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	230	33
E4F1	1877	broad.mit.edu	37	16	2279622	2279622	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2279622G>A	ENST00000301727.4	+	3	409	c.361G>A	c.(361-363)Gtg>Atg	p.V121M	E4F1_ENST00000564139.1_Missense_Mutation_p.V121M|E4F1_ENST00000565090.1_Missense_Mutation_p.V121M	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	121					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.V121L(1)		ovary(1)	1						GGCCCACATCGTGGTGGAGGC	0.592		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)											100	105	104			NA	NA	16		NA											NA				2279622		2198	4300	6498	SO:0001583	missense			U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967	1877	1877		Zinc fingers, C2H2-type	3121	protein-coding gene	gene with protein product		603022			NA	9763670, 8828041	Standard	NM_004424	XM_005255155	NA	Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.361G>A	16.37:g.2279622G>A	ENSP00000301727:p.Val121Met	NA	A8K2R4|O00146	37	CCDS32370.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928132	0.52759	.	.	ENSG00000167967	ENST00000301727	T	0.07800	3.16	4.62	3.65	0.41850	.	0.423937	0.25909	N	0.027514	T	0.07908	0.0198	L	0.53249	1.67	0.33903	D	0.638749	P;B;B	0.36315	0.547;0.338;0.174	B;B;B	0.23574	0.047;0.023;0.022	T	0.16394	-1.0404	10	0.72032	D	0.01	-20.7327	10.1734	0.42924	0.0945:0.0:0.9055:0.0	.	117;121;121	E9PFZ8;E7EMF7;Q66K89	.;.;E4F1_HUMAN	M	121	ENSP00000301727:V121M	ENSP00000301727:V121M	V	+	1	0	E4F1	2219623	1.000000	0.71417	0.980000	0.43619	0.874000	0.50279	4.736000	0.62059	1.154000	0.42482	0.561000	0.74099	GTG	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000435225.1		+	ENST00000301727.4	Missense_Mutation	SNP	16 : 2279622 - 2279622 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1131	245
GFPT2	9945	broad.mit.edu	37	5	179758500	179758500	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179758500A>C	ENST00000253778.8	-	5	563	c.394T>G	c.(394-396)Ttt>Gtt	p.F132V		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	132	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CTTACCAGAAATTTCCTCAGA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	77	78			NA	NA	5		NA											NA				179758500		1835	4097	5932	SO:0001583	missense			AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459	9945	9945			4242	protein-coding gene	gene with protein product	glutamine: fructose-6-phosphate aminotransferase 2	603865			NA	10198162	Standard	NM_005110	NM_005110	NA	Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.394T>G	5.37:g.179758500A>C	ENSP00000253778:p.Phe132Val	NA	Q53XM2|Q9BWS4	37	CCDS43411.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.437962	0.83885	.	.	ENSG00000131459	ENST00000253778;ENST00000518906	T;T	0.76186	-1.0;-1.0	5.48	5.48	0.80851	Glutamine amidotransferase, type II (1);Glutamine amidotransferase, class-II (1);	0.051822	0.85682	D	0.000000	T	0.73860	0.3641	L	0.41027	1.25	0.58432	D	0.999991	P	0.42692	0.787	P	0.48921	0.595	T	0.72221	-0.4356	9	.	.	.	-18.5472	15.25	0.73536	1.0:0.0:0.0:0.0	.	132	O94808	GFPT2_HUMAN	V	132;34	ENSP00000253778:F132V;ENSP00000431125:F34V	.	F	-	1	0	GFPT2	179691106	1.000000	0.71417	0.969000	0.41365	0.971000	0.66376	9.094000	0.94168	2.084000	0.62774	0.459000	0.35465	TTT	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373444.4		-	ENST00000253778.8	Missense_Mutation	SNP	5 : 179758500 - 179758500 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	49
ERBB2	2064	broad.mit.edu	37	17	37881332	37881332	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37881332G>A	ENST00000584450.1	+	21	2739	c.2524G>A	c.(2524-2526)Gta>Ata	p.V842I	ERBB2_ENST00000540147.1_Missense_Mutation_p.V812I|ERBB2_ENST00000406381.2_Missense_Mutation_p.V812I|ERBB2_ENST00000269571.5_Missense_Mutation_p.V842I|ERBB2_ENST00000541774.1_Missense_Mutation_p.V827I|ERBB2_ENST00000445658.2_Missense_Mutation_p.V566I|ERBB2_ENST00000584601.1_Missense_Mutation_p.V812I			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	842	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V842I(6)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TGTGCGGCTCGTACACAGGGA	0.597		1	A, Mis, O		breast, ovarian, other tumour types, NSCLC, gastric					TCGA GBM(5;<1E-08)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		17	17q21.1	2064	v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)		E	6	Substitution - Missense(6)	large_intestine(5)|stomach(1)											70	61	64			NA	NA	17		NA											NA				37881332		2203	4300	6503	SO:0001583	missense			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736	2064	2064		CD molecules	3430	protein-coding gene	gene with protein product	neuro/glioblastoma derived oncogene homolog	164870	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)	NGL	NA		Standard		XM_005257140	NA	Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000584450.1:c.2524G>A	17.37:g.37881332G>A	ENSP00000463714:p.Val842Ile	NA	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4	37		.	.	.	.	.	.	.	.	.	.	G	16.87	3.241303	0.58995	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69	5.09	5.09	0.68999	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.85106	0.5621	N	0.21142	0.635	0.80722	D	1	D;D;D	0.76494	0.997;0.979;0.999	D;P;D	0.64506	0.92;0.559;0.926	D	0.87344	0.2333	9	0.87932	D	0	.	18.2846	0.90110	0.0:0.0:1.0:0.0	.	566;827;842	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	I	812;827;566;842;812	ENSP00000385185:V812I;ENSP00000446466:V827I;ENSP00000404047:V566I;ENSP00000269571:V842I;ENSP00000443562:V812I	ENSP00000269571:V842I	V	+	1	0	ERBB2	35134858	1.000000	0.71417	0.919000	0.36401	0.900000	0.52787	9.657000	0.98554	2.651000	0.90000	0.563000	0.77884	GTA	ERBB2-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000445618.1		+	ENST00000584450.1	Missense_Mutation	SNP	17 : 37881332 - 37881332 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	57
AFF3	3899	broad.mit.edu	37	2	100623808	100623808	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100623808T>C	ENST00000409236.2	-	4	401	c.289A>G	c.(289-291)Aaa>Gaa	p.K97E	AFF3_ENST00000409579.1_Missense_Mutation_p.K122E|AFF3_ENST00000356421.2_Missense_Mutation_p.K122E|AFF3_ENST00000317233.4_Missense_Mutation_p.K97E			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	NA					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						ACCCCAGGTTTGGGAACTCCA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	99	97			NA	NA	2		NA											NA				100623808		2203	4300	6503	SO:0001583	missense			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218	3899	3899			6473	protein-coding gene	gene with protein product		601464	lymphoid nuclear protein related to AF4	LAF4	NA	8662235, 8555498	Standard	NM_002285	XM_005263945	NA	Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.289A>G	2.37:g.100623808T>C	ENSP00000387207:p.Lys97Glu	NA	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	37	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.264756	0.80358	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288;ENST00000432037;ENST00000423966;ENST00000441400;ENST00000424600;ENST00000416492	T;T;T;T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.21	5.21	0.72293	.	0.065008	0.64402	D	0.000017	T	0.71651	0.3365	L	0.28115	0.83	0.31583	N	0.654829	D;D;D;D;D	0.76494	0.998;0.998;0.999;0.994;0.988	D;D;D;D;P	0.81914	0.965;0.941;0.995;0.926;0.852	T	0.74441	-0.3664	10	0.40728	T	0.16	.	15.3723	0.74573	0.0:0.0:0.0:1.0	.	251;251;97;97;122	B7Z4I6;C9JXV5;A8K353;P51826;P51826-2	.;.;.;AFF3_HUMAN;.	E	97;122;122;97;97;251;122;97;97;97;97;97	ENSP00000317421:K97E;ENSP00000348793:K122E;ENSP00000386834:K122E;ENSP00000387207:K97E;ENSP00000406484:K97E;ENSP00000396582:K97E;ENSP00000399795:K97E;ENSP00000411383:K97E;ENSP00000395068:K97E	ENSP00000317421:K97E	K	-	1	0	AFF3	99990240	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.043000	0.49823	2.085000	0.62840	0.477000	0.44152	AAA	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328982.3		-	ENST00000409236.2	Missense_Mutation	SNP	2 : 100623808 - 100623808 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	516	128
OSBPL3	26031	broad.mit.edu	37	7	24874243	24874243	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24874243G>A	ENST00000313367.2	-	15	2059	c.1608C>T	c.(1606-1608)atC>atT	p.I536I	OSBPL3_ENST00000352860.1_Silent_p.I505I|OSBPL3_ENST00000396429.1_Silent_p.I500I|OSBPL3_ENST00000431825.2_Silent_p.I469I|OSBPL3_ENST00000409069.1_Silent_p.I469I|OSBPL3_ENST00000353930.1_Silent_p.I500I|OSBPL3_ENST00000396431.1_Silent_p.I505I	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	536					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GGTCCTTCCCGATGTTGTTCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,,,	1,4405	2.1+/-5.4	0,1,2202	115	96	102		1608,1515,1500,1407	-11.7	0	7		102	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	OSBPL3	NM_015550.2,NM_145320.1,NM_145321.1,NM_145322.1	,,,	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	,,,	536/888,505/857,500/852,469/821	24874243	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882	26031	26031		Oxysterol binding proteins, Pleckstrin homology (PH) domain containing	16370	protein-coding gene	gene with protein product		606732		OSBP3	NA	9734811	Standard		XM_005249698	NA	Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.1608C>T	7.37:g.24874243G>A		NA	A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	37	CCDS5390.1																																																																																			OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214085.2		-	ENST00000313367.2	Silent	SNP	7 : 24874243 - 24874243 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	503	15
LMBRD2	92255	broad.mit.edu	37	5	36122989	36122989	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36122989G>A	ENST00000296603.4	-	8	1359	c.897C>T	c.(895-897)atC>atT	p.I299I		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	299						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CACTTGGATAGATACTATGCT	0.269		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	75	73			NA	NA	5		NA											NA				36122989		2201	4288	6489	SO:0001819	synonymous_variant				CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187	92255	92255			25287	protein-coding gene	gene with protein product					NA		Standard	NM_001007527	NM_001007527	NA	Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.897C>T	5.37:g.36122989G>A		NA	B3KRB6|Q9NTC7	37	CCDS34145.1																																																																																			LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367552.1		-	ENST00000296603.4	Silent	SNP	5 : 36122989 - 36122989 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	378	29
DAXX	1616	broad.mit.edu	37	6	33287473	33287473	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33287473T>C	ENST00000374542.5	-	6	1828	c.1624A>G	c.(1624-1626)Agc>Ggc	p.S542G	DAXX_ENST00000266000.6_Missense_Mutation_p.S542G|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000414083.2_Missense_Mutation_p.S467G	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	542	Asp/Glu-rich (acidic).|Interaction with MAP3K5.|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GCATCTATGCTGGAGGGGGCC	0.522		NA	Mis, F, N		Pancreatic neuroendocrine tumors. Paediatric GBM									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		6	6p21.3	1616	death-domain associated protein		E	0													102	93	96			NA	NA	6		NA											NA				33287473		2203	4300	6503	SO:0001583	missense			AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209	1616	1616			2681	protein-coding gene	gene with protein product		603186	death-associated protein 6		NA	9407001, 9215629	Standard		NM_001141970	NA	Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1624A>G	6.37:g.33287473T>C	ENSP00000363668:p.Ser542Gly	NA	O14747|O15141|O15208|Q5STK9|Q9BWI3	37	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.387050	0.42308	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	4.36	0.3	0.15776	.	0.827161	0.11195	N	0.589489	T	0.14787	0.0357	L	0.57536	1.79	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.005	T	0.24621	-1.0155	9	0.36615	T	0.2	-4.1006	2.8037	0.05421	0.1873:0.2111:0.0:0.6016	.	554;542	B4E1C1;Q9UER7	.;DAXX_HUMAN	G	542;542;467	.	ENSP00000266000:S542G	S	-	1	0	DAXX	33395451	0.014000	0.17966	0.001000	0.08648	0.811000	0.45836	0.142000	0.16096	0.308000	0.22923	0.448000	0.29417	AGC	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076403.1		-	ENST00000374542.5	Missense_Mutation	SNP	6 : 33287473 - 33287473 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	537	91
PER2	8864	broad.mit.edu	37	2	239180010	239180010	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239180010A>G	ENST00000254657.3	-	6	994	c.715T>C	c.(715-717)Ttc>Ctc	p.F239L	PER2_ENST00000355768.2_Missense_Mutation_p.F239L|PER2_ENST00000440245.1_Missense_Mutation_p.F239L|PER2_ENST00000254658.3_Missense_Mutation_p.F239L	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	239	PAS 1.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		AAACTGTGGAACACGCCCACA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	126	132			NA	NA	2		NA											NA				239180010		2203	4300	6503	SO:0001583	missense			AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326	8864	8864			8846	protein-coding gene	gene with protein product		603426	period (Drosophila) homolog 2, period homolog 2 (Drosophila)		NA	9427249, 17218255	Standard	NM_022817	NM_022817	NA	Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.715T>C	2.37:g.239180010A>G	ENSP00000254657:p.Phe239Leu	NA	A2I2P7|Q4ZG49|Q9UQ45	37	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.987642	0.74589	.	.	ENSG00000132326	ENST00000254657;ENST00000254658;ENST00000440245;ENST00000355768	T;T;T;T	0.58210	2.42;0.35;1.66;0.35	5.06	5.06	0.68205	PAS (1);	0.000000	0.85682	D	0.000000	T	0.73953	0.3653	M	0.85777	2.775	0.80722	D	1	D;D;D;D	0.89917	0.999;0.982;1.0;0.999	D;D;D;D	0.91635	0.997;0.952;0.999;0.998	T	0.77520	-0.2557	10	0.52906	T	0.07	-35.2439	13.0997	0.59212	1.0:0.0:0.0:0.0	.	239;239;239;239	F5GYD5;B4DH14;O15055-2;O15055	.;.;.;PER2_HUMAN	L	239	ENSP00000254657:F239L;ENSP00000254658:F239L;ENSP00000397516:F239L;ENSP00000348013:F239L	ENSP00000254657:F239L	F	-	1	0	PER2	238844749	1.000000	0.71417	1.000000	0.80357	0.253000	0.25986	8.995000	0.93534	2.043000	0.60533	0.533000	0.62120	TTC	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257167.1		-	ENST00000254657.3	Missense_Mutation	SNP	2 : 239180010 - 239180010 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	648	135
SRRM1	10250	broad.mit.edu	37	1	24997983	24997983	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24997983C>T	ENST00000323848.9	+	16	2822	c.2507C>T	c.(2506-2508)gCt>gTt	p.A836V	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.A845V|SRRM1_ENST00000447431.2_Missense_Mutation_p.A848V	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	836	Ala-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		aagGAAAAGgctgtggctgca	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(68;897 1494 3282 17478)							NA				0													36	35	35			NA	NA	1		NA											NA				24997983		2203	4295	6498	SO:0001583	missense			AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226	10250	10250			16638	protein-coding gene	gene with protein product	Ser/Arg-related nuclear matrix protein, plenty of prolines 101-like	605975			NA	9531537	Standard	NM_005839	NM_005839	NA	Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.2507C>T	1.37:g.24997983C>T	ENSP00000326261:p.Ala836Val	NA	O60585|Q5VVN4	37	CCDS255.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138058	0.77775	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.47528	0.84;0.85;0.85	5.81	5.81	0.92471	.	0.200219	0.34959	N	0.003541	T	0.32526	0.0832	N	0.12746	0.255	0.80722	D	1	P;B	0.36909	0.573;0.209	B;B	0.32090	0.14;0.066	T	0.23190	-1.0195	10	0.52906	T	0.07	-2.9051	18.6677	0.91497	0.0:1.0:0.0:0.0	.	848;836	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	V	836;848;845	ENSP00000326261:A836V;ENSP00000391430:A848V;ENSP00000363510:A845V	ENSP00000326261:A836V	A	+	2	0	SRRM1	24870570	0.998000	0.40836	0.989000	0.46669	0.983000	0.72400	4.973000	0.63763	2.741000	0.93983	0.650000	0.86243	GCT	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000009292.2		+	ENST00000323848.9	Missense_Mutation	SNP	1 : 24997983 - 24997983 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	168	22
PDP1	54704	broad.mit.edu	37	8	94935002	94935002	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:94935002G>T	ENST00000297598.4	+	2	984	c.715G>T	c.(715-717)Gcc>Tcc	p.A239S	PDP1_ENST00000396200.3_Missense_Mutation_p.A264S|PDP1_ENST00000517764.1_Missense_Mutation_p.A239S|PDP1_ENST00000520728.1_Missense_Mutation_p.A239S	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	239					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TCTAATTAATGCCTTCAAGAG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	121	121			NA	NA	8		NA											NA				94935002		2203	4300	6503	SO:0001583	missense			AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	54704	54704	3.1.3.43	Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent	9279	protein-coding gene	gene with protein product		605993	protein phosphatase 2C, magnesium-dependent, catalytic subunit	PPM2C	NA	8396421	Standard	NM_018444	NM_001161779	NA	Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.715G>T	8.37:g.94935002G>T	ENSP00000297598:p.Ala239Ser	NA	B3KX71|Q5U5K1	37	CCDS6259.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732938	0.30684	.	.	ENSG00000164951	ENST00000297598;ENST00000520728;ENST00000396200;ENST00000517764	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	6.16	6.16	0.99307	Protein phosphatase 2C-like (5);	0.158082	0.56097	D	0.000028	T	0.18882	0.0453	L	0.43646	1.37	0.80722	D	1	B;B	0.31459	0.324;0.212	B;B	0.34873	0.191;0.191	T	0.02004	-1.1231	10	0.30078	T	0.28	-9.2349	15.5636	0.76269	0.0:0.0:0.8622:0.1378	.	290;239	B4DYX8;Q9P0J1	.;PDP1_HUMAN	S	239;239;264;239	ENSP00000297598:A239S;ENSP00000428317:A239S;ENSP00000379503:A264S;ENSP00000430380:A239S	ENSP00000297598:A239S	A	+	1	0	PDP1	95004178	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	6.614000	0.74197	2.937000	0.99478	0.650000	0.86243	GCC	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378415.2		+	ENST00000297598.4	Missense_Mutation	SNP	8 : 94935002 - 94935002 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	587	116
ZNF221	7638	broad.mit.edu	37	19	44471258	44471258	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44471258A>C	ENST00000251269.5	+	6	1932	c.1604A>C	c.(1603-1605)aAa>aCa	p.K535T	ZNF221_ENST00000587682.1_Missense_Mutation_p.K535T|ZNF221_ENST00000592350.1_Missense_Mutation_p.K535T	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				AAGCTATACAAATGTGAGCAG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	88	90			NA	NA	19		NA											NA				44471258		2203	4300	6503	SO:0001583	missense			AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905	7638	7638		Zinc fingers, C2H2-type, -	13014	protein-coding gene	gene with protein product					NA		Standard		NM_013359	NA	Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.1604A>C	19.37:g.44471258A>C	ENSP00000251269:p.Lys535Thr	NA	B2RAI6|Q2M2H2|Q9P1U8	37	CCDS12633.1	.	.	.	.	.	.	.	.	.	.	a	14.11	2.437523	0.43224	.	.	ENSG00000159905	ENST00000251269	T	0.08458	3.09	2.9	2.9	0.33743	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19127	0.0459	L	0.49699	1.58	0.09310	N	1	D	0.71674	0.998	D	0.75020	0.985	T	0.04065	-1.0980	9	0.54805	T	0.06	.	7.2124	0.25941	0.7731:0.2269:0.0:0.0	.	535	Q9UK13	ZN221_HUMAN	T	535	ENSP00000251269:K535T	ENSP00000251269:K535T	K	+	2	0	ZNF221	49163098	0.000000	0.05858	0.009000	0.14445	0.233000	0.25261	-0.227000	0.09126	1.319000	0.45190	0.379000	0.24179	AAA	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460068.1		+	ENST00000251269.5	Missense_Mutation	SNP	19 : 44471258 - 44471258 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	530	102
PNPLA6	10908	broad.mit.edu	37	19	7615445	7615445	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7615445G>A	ENST00000221249.6	+	19	2303	c.1872G>A	c.(1870-1872)ggG>ggA	p.G624G	PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000414982.3_Silent_p.G672G|PNPLA6_ENST00000600737.1_Silent_p.G663G|PNPLA6_ENST00000545201.2_Silent_p.G598G|PNPLA6_ENST00000450331.3_Silent_p.G624G	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	663					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TGCTCAATGGGCGGCTGCGTA	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	44	47			NA	NA	19		NA											NA				7615445		2203	4300	6503	SO:0001819	synonymous_variant			AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11					10908	10908		Patatin-like phospholipase domain containing	16268	protein-coding gene	gene with protein product	neuropathy target esterase	603197			NA	9576844, 16799181, 19029121	Standard	NM_006702	NM_006702	NA	Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1872G>A	19.37:g.7615445G>A		NA	A6NGQ0|O60859|Q86W58|Q9UG58	37	CCDS32891.1																																																																																			PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459275.1		+	ENST00000221249.6	Silent	SNP	19 : 7615445 - 7615445 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	174	37
C1RL	51279	broad.mit.edu	37	12	7249062	7249062	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7249062G>A	ENST00000545280.1	-	4	285				C1RL_ENST00000266542.4_Silent_p.G463G|C1RL_ENST00000504702.2_Intron|C1RL_ENST00000544702.1_3'UTR			Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	NA					complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CATACCCTTCGCCACACCCTA	0.562		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	132	115	121		1389	4.1	1	12		121	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	C1RL	NM_016546.2		0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154		463/488	7249062	2,13004	2203	4300	6503	SO:0001627	intron_variant			AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178	51279	51279			21265	protein-coding gene	gene with protein product		608974			NA	12838346	Standard	NM_016546	XM_005253385	NA	Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000545280.1:c.269-2596C>T	12.37:g.7249062G>A		NA	Q53GX9	37																																																																																				C1RL-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000398366.1		-	ENST00000545280.1	Intron	SNP	12 : 7249062 - 7249062 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	463	61
BDP1	55814	broad.mit.edu	37	5	70793140	70793140	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:70793140C>T	ENST00000358731.4	+	13	2106	c.1843C>T	c.(1843-1845)Cgc>Tgc	p.R615C	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	615					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GTTGAGAGGTCGCTTCCAAAG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	81	83			NA	NA	5		NA											NA				70793140		1829	4084	5913	SO:0001583	missense			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734	55814	55814			13652	protein-coding gene	gene with protein product		607012	TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1	TFNR, TAF3B1	NA	11214970, 11040218	Standard	NM_018429	NM_018429	NA	Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.1843C>T	5.37:g.70793140C>T	ENSP00000351575:p.Arg615Cys	NA	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	37	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	C	6.804	0.517347	0.13005	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000451951;ENST00000444711	T	0.11385	2.78	5.05	4.18	0.49190	.	0.695259	0.14689	N	0.304260	T	0.12433	0.0302	L	0.54323	1.7	0.80722	D	1	B;B;B	0.18610	0.029;0.015;0.009	B;B;B	0.15052	0.012;0.006;0.009	T	0.02844	-1.1103	10	0.51188	T	0.08	.	10.0523	0.42223	0.0:0.9053:0.0:0.0947	.	615;615;615	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	C	615;615;195;615	ENSP00000351575:R615C	ENSP00000351575:R615C	R	+	1	0	BDP1	70828896	0.997000	0.39634	0.928000	0.36995	0.031000	0.12232	2.288000	0.43514	1.270000	0.44297	-0.189000	0.12847	CGC	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374681.2		+	ENST00000358731.4	Missense_Mutation	SNP	5 : 70793140 - 70793140 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	422	79
EXTL1	2134	broad.mit.edu	37	1	26361822	26361822	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26361822G>T	ENST00000374280.3	+	11	2882	c.2015G>T	c.(2014-2016)aGc>aTc	p.S672I		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	672					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		AAGTACCGCAGCCTGGAGAAG	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	32	32			NA	NA	1		NA											NA				26361822		2203	4300	6503	SO:0001583	missense			U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2134	2134	2.4.1.224	Exostosin glycosyltransferase family	3515	protein-coding gene	gene with protein product	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase, alpha-N-acetylglucosaminyltransferase II, glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase, exostosin-L	601738	exostoses (multiple)-like 1		NA	9037597	Standard	NM_004455	NM_004455	NA	Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.2015G>T	1.37:g.26361822G>T	ENSP00000363398:p.Ser672Ile	NA	Q6GSC1	37	CCDS271.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.871983	0.72180	.	.	ENSG00000158008	ENST00000374280	D	0.95238	-3.65	4.67	2.5	0.30297	.	0.777423	0.12720	N	0.444807	D	0.90205	0.6938	L	0.54323	1.7	0.34908	D	0.74717	B	0.34103	0.437	B	0.28916	0.096	D	0.89961	0.4086	10	0.66056	D	0.02	-1.1405	5.0811	0.14656	0.456:0.0:0.544:0.0	.	672	Q92935	EXTL1_HUMAN	I	672	ENSP00000363398:S672I	ENSP00000363398:S672I	S	+	2	0	EXTL1	26234409	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	2.986000	0.49370	1.074000	0.40909	0.561000	0.74099	AGC	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019749.1		+	ENST00000374280.3	Missense_Mutation	SNP	1 : 26361822 - 26361822 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	261	48
OR4C11	219429	broad.mit.edu	37	11	55371242	55371242	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55371242G>A	ENST00000302231.4	-	1	632	c.608C>T	c.(607-609)gCa>gTa	p.A203V		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TGAGCAAATTGCCCCACTGTT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	72	78			NA	NA	11		NA											NA				55371242		2179	4012	6191	SO:0001583	missense			AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188	219429	219429		GPCR / Class A : Olfactory receptors	15167	protein-coding gene	gene with protein product				OR4C11P	NA		Standard	NM_001004700	NM_001004700	NA	Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.608C>T	11.37:g.55371242G>A	ENSP00000306651:p.Ala203Val	NA	B9EIL4|Q8NGL8	37	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	G	1.305	-0.603905	0.03717	.	.	ENSG00000172188	ENST00000302231	T	0.34859	1.34	4.34	0.186	0.15105	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	U	0.000184	T	0.09555	0.0235	N	0.03194	-0.395	0.09310	N	1	B	0.17852	0.024	B	0.19148	0.024	T	0.22417	-1.0217	10	0.02654	T	1	.	0.6945	0.00897	0.2468:0.1829:0.3829:0.1874	.	203	Q6IEV9	OR4CB_HUMAN	V	203	ENSP00000306651:A203V	ENSP00000306651:A203V	A	-	2	0	OR4C11	55127818	0.000000	0.05858	0.006000	0.13384	0.011000	0.07611	-1.028000	0.03589	0.195000	0.20347	-0.349000	0.07799	GCA	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383268.1		-	ENST00000302231.4	Missense_Mutation	SNP	11 : 55371242 - 55371242 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	508	42
AKAP8	10270	broad.mit.edu	37	19	15484043	15484043	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15484043G>A	ENST00000269701.2	-	5	540	c.480C>T	c.(478-480)tcC>tcT	p.S160S		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	160					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						CATTGCGGTCGGACCCCAGGT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(190;1671 2163 3274 27186 30476)							NA				0													31	37	35			NA	NA	19		NA											NA				15484043		2203	4300	6503	SO:0001819	synonymous_variant			Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127	10270	10270		A-kinase anchor proteins	378	protein-coding gene	gene with protein product	A-kinase anchor protein, 95kDa	604692			NA	9473338	Standard	NM_005858	NM_005858	NA	Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.480C>T	19.37:g.15484043G>A		NA		37	CCDS12329.1																																																																																			AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461293.3		-	ENST00000269701.2	Silent	SNP	19 : 15484043 - 15484043 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	321	50
DTNB	1838	broad.mit.edu	37	2	25861906	25861906	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25861906C>T	ENST00000406818.3	-	3	374	c.125G>A	c.(124-126)cGa>cAa	p.R42Q	DTNB_ENST00000404103.3_Missense_Mutation_p.R42Q|DTNB_ENST00000496972.2_5'UTR|DTNB_ENST00000407661.3_Missense_Mutation_p.R42Q|DTNB_ENST00000405222.1_Missense_Mutation_p.R42Q|DTNB_ENST00000288642.8_Missense_Mutation_p.R42Q|DTNB_ENST00000545439.1_5'UTR|DTNB_ENST00000407038.3_Missense_Mutation_p.R42Q|DTNB_ENST00000407186.1_Missense_Mutation_p.R42Q|DTNB_ENST00000472690.1_5'UTR	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	42						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGTACAAATCGTAATTTGCA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	84	85			NA	NA	2		NA											NA				25861906		1851	4096	5947	SO:0001583	missense			AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101	1838	1838			3058	protein-coding gene	gene with protein product		602415			NA	9419360	Standard	NM_033147	NM_021907	NA	Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.125G>A	2.37:g.25861906C>T	ENSP00000384084:p.Arg42Gln	NA	O43782|O60881|O75538|Q9UE14|Q9UE15|Q9UE16	37	CCDS46237.1	.	.	.	.	.	.	.	.	.	.	C	33	5.244952	0.95272	.	.	ENSG00000138101	ENST00000406818;ENST00000404103;ENST00000407661;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000303659;ENST00000349996	T;T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.96	5.96	0.96718	EF-hand domain, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.81758	0.4890	M	0.75150	2.29	0.80722	D	1	D;P;D;D;D;D;P;P	0.89917	0.995;0.884;0.998;1.0;1.0;1.0;0.916;0.875	P;P;P;D;D;D;P;B	0.81914	0.823;0.473;0.899;0.995;0.98;0.99;0.493;0.383	T	0.81745	-0.0792	10	0.54805	T	0.06	-7.3487	17.1412	0.86754	0.0:1.0:0.0:0.0	.	42;42;42;42;42;42;42;42	O60941-3;B7Z6A9;E9PEY4;Q96AW0;O60941-2;O60941-4;G5E9F6;O60941	.;.;.;.;.;.;.;DTNB_HUMAN	Q	42	ENSP00000384084:R42Q;ENSP00000385482:R42Q;ENSP00000385193:R42Q;ENSP00000384767:R42Q;ENSP00000384787:R42Q;ENSP00000385784:R42Q;ENSP00000288642:R42Q;ENSP00000306529:R42Q;ENSP00000340957:R42Q	ENSP00000288642:R42Q	R	-	2	0	DTNB	25715410	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.479000	0.73600	2.832000	0.97577	0.655000	0.94253	CGA	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325361.1		-	ENST00000406818.3	Missense_Mutation	SNP	2 : 25861906 - 25861906 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	55	7
PCNXL2	80003	broad.mit.edu	37	1	233192981	233192981	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233192981G>A	ENST00000258229.9	-	24	4366	c.4132C>T	c.(4132-4134)Cca>Tca	p.P1378S	PCNXL2_ENST00000344698.2_Missense_Mutation_p.P30S	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	NA						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TTCTTACCTGGATCTCTTTCA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	96	99			NA	NA	1		NA											NA				233192981		1840	4085	5925	SO:0001583	missense			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749	80003	80003			8736	protein-coding gene	gene with protein product			pecanex (Drosophila)-like 2		NA	12477932	Standard	NM_014801	NM_014801	NA	Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.4132C>T	1.37:g.233192981G>A	ENSP00000258229:p.Pro1378Ser	NA	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	37	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.143950	0.37825	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	T;T	0.24723	1.84;2.89	5.8	3.9	0.45041	.	0.329396	0.36519	N	0.002548	T	0.22781	0.0550	L	0.46885	1.475	0.80722	D	1	B;B	0.13145	0.003;0.007	B;B	0.14023	0.009;0.01	T	0.03148	-1.1067	10	0.45353	T	0.12	.	10.3576	0.43974	0.0755:0.4085:0.516:0.0	.	1378;30	A6NKB5;A6NKB5-3	PCX2_HUMAN;.	S	30;1378	ENSP00000340759:P30S;ENSP00000258229:P1378S	ENSP00000258229:P1378S	P	-	1	0	PCNXL2	231259604	0.974000	0.33945	0.999000	0.59377	0.989000	0.77384	0.916000	0.28651	0.769000	0.33313	0.655000	0.94253	CCA	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092480.3		-	ENST00000258229.9	Missense_Mutation	SNP	1 : 233192981 - 233192981 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	74	16
KCNA6	3742	broad.mit.edu	37	12	4919450	4919450	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4919450G>T	ENST00000280684.3	+	1	1109	c.243G>T	c.(241-243)agG>agT	p.R81S	KCNA6_ENST00000433855.1_Missense_Mutation_p.R81S			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	81						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						ACCCCCTGAGGAACGAGTACT	0.657		NA								HNSCC(72;0.22)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	54	53			NA	NA	12		NA											NA				4919450		2203	4300	6503	SO:0001583	missense			X17622	CCDS8534.1	12p13	2014-06-12					3742	3742		Potassium channels, Voltage-gated ion channels / Potassium channels	6225	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 96	176257			NA	16382104	Standard	NM_002235	NM_002235	NA	Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.243G>T	12.37:g.4919450G>T	ENSP00000280684:p.Arg81Ser	NA		37	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487902	0.64074	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	T;T	0.75938	-0.98;-0.98	4.57	-3.05	0.05396	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.276440	0.30704	N	0.009042	T	0.80065	0.4555	M	0.67953	2.075	0.47994	D	0.999565	D	0.76494	0.999	D	0.78314	0.991	T	0.77953	-0.2394	10	0.59425	D	0.04	.	9.907	0.41381	0.1623:0.5184:0.3193:0.0	.	81	P17658	KCNA6_HUMAN	S	81	ENSP00000408321:R81S;ENSP00000280684:R81S	ENSP00000280684:R81S	R	+	3	2	KCNA6	4789711	0.994000	0.37717	0.558000	0.28319	0.993000	0.82548	0.182000	0.16900	-0.390000	0.07774	0.462000	0.41574	AGG	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398909.1		+	ENST00000280684.3	Missense_Mutation	SNP	12 : 4919450 - 4919450 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	588	97
CCNB2	9133	broad.mit.edu	37	15	59399591	59399591	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59399591G>A	ENST00000288207.2	+	2	286	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	CCNB2_ENST00000559622.1_Intron	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	32					cell cycle checkpoint|cell division|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	centrosome|cytosol|nucleus	protein kinase binding			kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						ACTATTAGGCGAACTGTTTTA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	77	77			NA	NA	15		NA											NA				59399591		2191	4291	6482	SO:0001583	missense			AF002822	CCDS10170.1	15q21.3	2004-01-19			ENSG00000157456	ENSG00000157456	9133	9133			1580	protein-coding gene	gene with protein product		602755			NA		Standard	NM_004701	NM_004701	NA	Approved	HsT17299	uc002afz.3	O95067	OTTHUMG00000132715	ENST00000288207.2:c.95G>A	15.37:g.59399591G>A	ENSP00000288207:p.Arg32Gln	NA	B3KM93|Q6FI99	37	CCDS10170.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.565353	0.65651	.	.	ENSG00000157456	ENST00000288207	T	0.22539	1.95	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.51193	0.1660	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.59096	-0.7518	10	0.87932	D	0	.	15.4855	0.75564	0.0:0.0:1.0:0.0	.	32	O95067	CCNB2_HUMAN	Q	32	ENSP00000288207:R32Q	ENSP00000288207:R32Q	R	+	2	0	CCNB2	57186883	1.000000	0.71417	0.356000	0.25785	0.461000	0.32589	6.531000	0.73820	2.410000	0.81850	0.563000	0.77884	CGA	CCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256016.1		+	ENST00000288207.2	Missense_Mutation	SNP	15 : 59399591 - 59399591 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	66
BCL9	607	broad.mit.edu	37	1	147092306	147092306	+	Missense_Mutation	SNP	G	G	T	rs34002844		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147092306G>T	ENST00000234739.3	+	8	3085	c.2345G>T	c.(2344-2346)aGa>aTa	p.R782I		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	782	Pro-rich.		R -> K (in dbSNP:rs34002844).		Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					ATGGGCCCCAGACCATTCCTT	0.582		NA	T	IGH@, IGL@	B-ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0													44	45	45			NA	NA	1		NA											NA				147092306		2203	4300	6503	SO:0001583	missense			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128	607	607			1008	protein-coding gene	gene with protein product		602597			NA	9490669	Standard	NM_004326	NM_004326	NA	Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.2345G>T	1.37:g.147092306G>T	ENSP00000234739:p.Arg782Ile	NA	Q5T489	37	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.438270	0.25900	.	.	ENSG00000116128	ENST00000234739	T	0.52526	0.66	5.0	4.09	0.47781	.	0.148378	0.64402	D	0.000013	T	0.21881	0.0527	N	0.19112	0.55	0.58432	D	0.999996	P;P	0.44578	0.838;0.838	B;B	0.41813	0.367;0.367	T	0.06679	-1.0813	10	0.51188	T	0.08	-13.7937	13.4586	0.61214	0.0751:0.0:0.9249:0.0	.	782;782	Q1JQ81;O00512	.;BCL9_HUMAN	I	782	ENSP00000234739:R782I	ENSP00000234739:R782I	R	+	2	0	BCL9	145558930	1.000000	0.71417	0.686000	0.30086	0.003000	0.03518	6.216000	0.72212	1.351000	0.45789	-0.136000	0.14681	AGA	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039468.1		+	ENST00000234739.3	Missense_Mutation	SNP	1 : 147092306 - 147092306 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	229	30
PARK2	5071	broad.mit.edu	37	6	162622162	162622162	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:162622162C>T	ENST00000366898.1	-	4	637		c.e4+1		PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366892.1_Splice_Site|PARK2_ENST00000366897.1_Splice_Site|PARK2_ENST00000338468.3_Intron|PARK2_ENST00000366894.1_Splice_Site	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	NA					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CATTTCCTTACCTGGGTCAAG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	92	95			NA	NA	6		NA											NA				162622162		2203	4300	6503	SO:0001630	splice_region_variant				CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345	5071	5071		Parkinson disease	8607	protein-coding gene	gene with protein product	E3 ubiquitin ligase	602544	Parkinson disease (autosomal recessive, juvenile) 2, parkin, parkinson protein 2, E3 ubiquitin protein ligase (parkin)		NA	9560156, 9570960	Standard		NM_004562	NA	Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.534+1G>A	6.37:g.162622162C>T		NA	A3FG77|A8K975|Q5TFV8|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	37	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248666	0.80024	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366892;ENST00000366895	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3813	0.74658	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PARK2	162542152	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	3.883000	0.56168	2.688000	0.91661	0.643000	0.83706	.	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042995.1	Intron	-	ENST00000366898.1	Splice_Site	SNP	6 : 162622162 - 162622162 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	372	72
SLC2A1	6513	broad.mit.edu	37	1	43396482	43396482	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43396482C>A	ENST00000426263.3	-	4	509	c.331G>T	c.(331-333)Ggc>Tgc	p.G111C	SLC2A1_ENST00000415851.2_Missense_Mutation_p.G111C|SLC2A1_ENST00000475162.1_5'UTR|SLC2A1_ENST00000372500.3_Missense_Mutation_p.G111C	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	111					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	TTCGAGAAGCCCATGAGCACG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	68	71			NA	NA	1		NA											NA				43396482		2203	4300	6503	SO:0001583	missense			K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394	6513	6513		Solute carriers	11005	protein-coding gene	gene with protein product		138140	human T-cell leukemia virus (I and II) receptor	GLUT1, GLUT, HTLVR	NA	8839927, 14622599, 18451999	Standard	NM_006516	NM_006516	NA	Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.331G>T	1.37:g.43396482C>A	ENSP00000416293:p.Gly111Cys	NA	A8K9S6|B2R620|D3DPX0|O75535|Q147X2	37	CCDS477.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.967324	0.92855	.	.	ENSG00000117394	ENST00000426263;ENST00000372501;ENST00000439722;ENST00000415851;ENST00000372500	D;D;D	0.82893	-1.66;-1.66;-1.66	5.51	5.51	0.81932	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.89860	0.6837	M	0.90369	3.11	0.80722	D	1	P	0.47191	0.891	P	0.49597	0.616	D	0.91902	0.5532	10	0.87932	D	0	.	16.9145	0.86148	0.0:1.0:0.0:0.0	.	111	P11166	GTR1_HUMAN	C	111;111;16;111;111	ENSP00000416293:G111C;ENSP00000395521:G16C;ENSP00000361578:G111C	ENSP00000361578:G111C	G	-	1	0	SLC2A1	43169069	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.581000	0.87130	0.555000	0.69702	GGC	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000020358.2		-	ENST00000426263.3	Missense_Mutation	SNP	1 : 43396482 - 43396482 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	183	20
DOC2A	8448	broad.mit.edu	37	16	30021360	30021360	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30021360C>T	ENST00000350119.4	-	2	374	c.184G>A	c.(184-186)Gcc>Acc	p.A62T	DOC2A_ENST00000564944.1_Missense_Mutation_p.A62T|DOC2A_ENST00000564979.1_Missense_Mutation_p.A62T	NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2	NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	62	Interaction with UNC13D and DYNLT1.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						GCAGGGGGGGCCAGAGCCAGG	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	18	17			NA	NA	16		NA											NA				30021360		2171	4232	6403	SO:0001583	missense			D31897	CCDS10666.1	16p11.2	2014-07-02			ENSG00000149927	ENSG00000149927	8448	8448		Synaptotagmins	2985	protein-coding gene	gene with protein product		604567			NA	7826360, 9736751	Standard	NM_003586	NM_003586	NA	Approved		uc002dvn.3	Q14183	OTTHUMG00000132109	ENST00000350119.4:c.184G>A	16.37:g.30021360C>T	ENSP00000340017:p.Ala62Thr	NA	Q6P4G4|Q7Z5G0|Q8IVX0	37	CCDS10666.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592566	0.46214	.	.	ENSG00000149927	ENST00000350119	T	0.62364	0.03	4.23	3.2	0.36748	.	0.200290	0.24791	N	0.035562	T	0.36663	0.0975	N	0.14661	0.345	0.28953	N	0.890294	B	0.06786	0.001	B	0.04013	0.001	T	0.13548	-1.0505	10	0.13108	T	0.6	.	6.3465	0.21353	0.2189:0.5965:0.1846:0.0	.	62	Q14183	DOC2A_HUMAN	T	62	ENSP00000340017:A62T	ENSP00000340017:A62T	A	-	1	0	DOC2A	29928861	0.148000	0.22702	1.000000	0.80357	0.985000	0.73830	0.291000	0.18994	2.203000	0.70933	0.561000	0.74099	GCC	DOC2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255148.2		-	ENST00000350119.4	Missense_Mutation	SNP	16 : 30021360 - 30021360 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	67
PRDM10	56980	broad.mit.edu	37	11	129784704	129784704	+	Silent	SNP	C	C	T	rs147190509	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:129784704C>T	ENST00000358825.5	-	18	2979	c.2748G>A	c.(2746-2748)acG>acA	p.T916T	PRDM10_ENST00000528746.1_Silent_p.T886T|PRDM10_ENST00000304538.6_Silent_p.T826T|PRDM10_ENST00000423662.2_Silent_p.T830T|PRDM10_ENST00000526082.1_Silent_p.T830T|PRDM10_ENST00000360871.3_Silent_p.T912T	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	916	Thr-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CCCCTTGTGGCGTTCGGTAGT	0.557		NA											C	0	0	NA	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0	0	EXOME	NA	NA	2e-04	SNP								NA				0								C	,,,	8,4394	14.3+/-33.2	0,8,2193	327	287	301		2748,2736,2490,2478	-6.3	0	11	dbSNP_134	301	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PRDM10	NM_020228.2,NM_199437.1,NM_199438.1,NM_199439.1	,,,	0,8,6490	TT,TC,CC	NA	0.0,0.1817,0.0616	,,,	916/1161,912/1157,830/1062,826/1024	129784704	8,12988	2201	4297	6498	SO:0001819	synonymous_variant			AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325	56980	56980		Zinc fingers, C2H2-type	13995	protein-coding gene	gene with protein product	PRDM zinc finger transcription factor, PR-domain family member 7, tristanin				NA	12175877	Standard	NM_199437	NM_020228	NA	Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000358825.5:c.2748G>A	11.37:g.129784704C>T		NA	B7ZL71|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	37	CCDS44771.1																																																																																			PRDM10-005	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386074.1		-	ENST00000358825.5	Silent	SNP	11 : 129784704 - 129784704 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1493	245
PKP4	8502	broad.mit.edu	37	2	159535158	159535158	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:159535158C>T	ENST00000389757.3	+	20	3318	c.3193C>T	c.(3193-3195)Cgg>Tgg	p.R1065W	PKP4_ENST00000389759.3_Missense_Mutation_p.R1108W|AC005042.4_ENST00000342892.4_RNA	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	1108					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						ACAAAATAGACGGCTACAGGT	0.403		NA								HNSCC(62;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	45	45			NA	NA	2		NA											NA				159535158		2203	4297	6500	SO:0001583	missense			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283	8502	8502		Armadillo repeat containing	9026	protein-coding gene	gene with protein product		604276			NA	9342840, 8937994	Standard		NM_003628	NA	Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389757.3:c.3193C>T	2.37:g.159535158C>T	ENSP00000374407:p.Arg1065Trp	NA	Q86W91	37	CCDS33306.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502554	0.64298	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	T;T	0.75821	-0.97;-0.93	5.83	5.83	0.93111	.	0.130249	0.51477	D	0.000096	T	0.61489	0.2351	L	0.27053	0.805	0.80722	D	1	P;P;P	0.46706	0.722;0.617;0.883	B;B;B	0.31101	0.08;0.124;0.117	T	0.69749	-0.5061	10	0.87932	D	0	-14.9775	20.1184	0.97949	0.0:1.0:0.0:0.0	.	1063;1065;1108	Q4W5T8;Q99569-2;Q99569	.;.;PKP4_HUMAN	W	1065;1108	ENSP00000374407:R1065W;ENSP00000374409:R1108W	ENSP00000374407:R1065W	R	+	1	2	PKP4	159243404	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.259000	0.65485	2.769000	0.95229	0.655000	0.94253	CGG	PKP4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333249.1		+	ENST00000389757.3	Missense_Mutation	SNP	2 : 159535158 - 159535158 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	598	145
HMGCLL1	54511	broad.mit.edu	37	6	55304313	55304313	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55304313G>A	ENST00000398661.2	-	9	1061	c.930C>T	c.(928-930)ggC>ggT	p.G310G	HMGCLL1_ENST00000508459.1_Silent_p.G114G|HMGCLL1_ENST00000308161.4_Silent_p.G248G|HMGCLL1_ENST00000507223.1_5'UTR|HMGCLL1_ENST00000370850.2_Silent_p.G177G|HMGCLL1_ENST00000274901.4_Silent_p.G280G	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	310							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CATAAGGGCAGCCACCTAATC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(35;840 893 7837 15538 42887)							NA				0													103	97	99			NA	NA	6		NA											NA				55304313		1875	4107	5982	SO:0001819	synonymous_variant			AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151	54511	54511			21359	protein-coding gene	gene with protein product			3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1		NA	8619474, 9110174	Standard	XM_166383	NM_001042406	NA	Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.930C>T	6.37:g.55304313G>A		NA	B1AQ42|B3KNV0|Q6ZSA9	37	CCDS43475.1																																																																																			HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360290.1		-	ENST00000398661.2	Silent	SNP	6 : 55304313 - 55304313 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	68
NUP98	4928	broad.mit.edu	37	11	3793016	3793016	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3793016C>T	ENST00000324932.7	-	7	1166	c.746G>A	c.(745-747)gGc>gAc	p.G249D	NUP98_ENST00000397007.4_Missense_Mutation_p.G249D|NUP98_ENST00000355260.3_Missense_Mutation_p.G249D|NUP98_ENST00000397004.4_Missense_Mutation_p.G249D|NUP98_ENST00000359171.4_Missense_Mutation_p.G249D	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	249	Gly/Thr-rich.				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		ATATGCAAAGCCTGAATTAGT	0.448		NA	T	HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11	AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0													126	119	122			NA	NA	11		NA											NA				3793016		2201	4298	6499	SO:0001583	missense			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713	4928	4928			8068	protein-coding gene	gene with protein product		601021	nucleoporin 98kD		NA	9166830	Standard	NM_016320	NM_139131	NA	Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.746G>A	11.37:g.3793016C>T	ENSP00000316032:p.Gly249Asp	NA	Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	37	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509444	0.64522	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.	.	.	5.72	4.79	0.61399	.	0.240110	0.42420	D	0.000701	T	0.58119	0.2100	M	0.76838	2.35	0.31610	N	0.651631	P;P;B;P;P	0.39903	0.568;0.649;0.069;0.694;0.694	B;B;B;B;B	0.41299	0.193;0.322;0.082;0.353;0.353	T	0.68100	-0.5498	9	0.42905	T	0.14	.	15.1002	0.72269	0.0:0.8525:0.1475:0.0	.	249;249;249;249;249	P52948;P52948-3;P52948-4;P52948-2;P52948-5	NUP98_HUMAN;.;.;.;.	D	249	.	ENSP00000316032:G249D	G	-	2	0	NUP98	3749592	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.261000	0.43276	1.388000	0.46506	0.655000	0.94253	GGC	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032766.3		-	ENST00000324932.7	Missense_Mutation	SNP	11 : 3793016 - 3793016 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	41
DHPS	1725	broad.mit.edu	37	19	12790297	12790297	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12790297C>A	ENST00000210060.7	-	5	787	c.652G>T	c.(652-654)Gag>Tag	p.E218*	DHPS_ENST00000351660.5_Nonsense_Mutation_p.E218*|DHPS_ENST00000594424.1_Nonsense_Mutation_p.E176*	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	218					peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8					Sulfadoxine(DB01299)	TACACGGACTCTGGGTTGTTG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													194	179	184			NA	NA	19		NA											NA				12790297		2203	4300	6503	SO:0001587	stop_gained			U79262	CCDS12276.1, CCDS12277.1, CCDS59354.1	19p13.2	2011-11-24			ENSG00000095059	ENSG00000095059	1725	1725			2869	protein-coding gene	gene with protein product	migration-inducing gene 13	600944			NA	7673224	Standard	NM_001930	NM_001930	NA	Approved	MIG13	uc002muh.2	P49366		ENST00000210060.7:c.652G>T	19.37:g.12790297C>A	ENSP00000210060:p.Glu218*	NA	A8K688|Q13184|Q13276|Q9UDG0	37	CCDS12276.1	.	.	.	.	.	.	.	.	.	.	C	37	6.500388	0.97616	.	.	ENSG00000095059	ENST00000210060;ENST00000351660	.	.	.	5.45	5.45	0.79879	.	0.268691	0.41605	D	0.000852	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-20.7813	16.7611	0.85512	0.0:1.0:0.0:0.0	.	.	.	.	X	218	.	ENSP00000210060:E218X	E	-	1	0	DHPS	12651297	1.000000	0.71417	0.907000	0.35723	0.963000	0.63663	7.375000	0.79646	2.546000	0.85860	0.563000	0.77884	GAG	DHPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462708.1		-	ENST00000210060.7	Nonsense_Mutation	SNP	19 : 12790297 - 12790297 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1417	260
SHANK2	22941	broad.mit.edu	37	11	70319396	70319396	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70319396G>T	ENST00000409161.1	-	10	3339	c.3340C>A	c.(3340-3342)Cct>Act	p.P1114T	SHANK2_ENST00000338508.4_Missense_Mutation_p.P1711T|SHANK2_ENST00000449833.2_Missense_Mutation_p.P1115T|SHANK2_ENST00000423696.2_Missense_Mutation_p.P1331T			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1331					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GAGACCACAGGGCTTGGGGCA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	57	56			NA	NA	11		NA											NA				70319396		2200	4294	6494	SO:0001583	missense			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105	22941	22941		Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	14295	protein-coding gene	gene with protein product		603290	cortactin binding protein 1	CORTBP1	NA	10506216	Standard	NM_012309	XM_005277930	NA	Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000409161.1:c.3340C>A	11.37:g.70319396G>T	ENSP00000386491:p.Pro1114Thr	NA	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	37		.	.	.	.	.	.	.	.	.	.	G	20.5	3.994457	0.74703	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.58940	1.81;1.83;2.58;0.3;1.91;1.98	5.91	5.91	0.95273	.	0.047883	0.85682	D	0.000000	T	0.75250	0.3824	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.992	D;D;P	0.91635	0.962;0.999;0.894	T	0.75491	-0.3299	10	0.87932	D	0	.	20.3018	0.98617	0.0:0.0:1.0:0.0	.	1331;1710;1115	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	T	1115;1114;989;1711;1331;1349;1334	ENSP00000399423:P1115T;ENSP00000386491:P1114T;ENSP00000402944:P989T;ENSP00000345193:P1711T;ENSP00000394536:P1331T;ENSP00000294018:P1334T	ENSP00000294018:P1334T	P	-	1	0	SHANK2	69997044	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.861000	0.75478	2.799000	0.96334	0.650000	0.86243	CCT	SHANK2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000259184.1		-	ENST00000409161.1	Missense_Mutation	SNP	11 : 70319396 - 70319396 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	410	78
COBL	23242	broad.mit.edu	37	7	51092833	51092833	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:51092833G>A	ENST00000265136.7	-	12	3906	c.3741C>T	c.(3739-3741)tcC>tcT	p.S1247S	COBL_ENST00000395542.2_Silent_p.S1329S	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1247	WH2 3.									NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CCCCTGTGCCGGAGCGGATGG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(189;2119 2138 12223 30818 34679)							NA				0													122	121	121			NA	NA	7		NA											NA				51092833		2203	4300	6503	SO:0001819	synonymous_variant			AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078	23242	23242			22199	protein-coding gene	gene with protein product		610317	cordon-bleu homolog (mouse)		NA		Standard	NM_015198	NM_015198	NA	Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.3741C>T	7.37:g.51092833G>A		NA	A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	37	CCDS34637.1																																																																																			COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342682.1		-	ENST00000265136.7	Silent	SNP	7 : 51092833 - 51092833 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1062	169
KCNIP4	80333	broad.mit.edu	37	4	20751322	20751322	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20751322G>A	ENST00000382148.3	-	4	653	c.317C>T	c.(316-318)gCa>gTa	p.A106V	KCNIP4_ENST00000447367.2_Missense_Mutation_p.A97V|KCNIP4_ENST00000359001.5_Missense_Mutation_p.A69V|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000382152.2_Missense_Mutation_p.A131V|KCNIP4_ENST00000382150.4_Missense_Mutation_p.A110V|PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000509207.1_Missense_Mutation_p.A69V	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	131	EF-hand 1; degenerate.					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				TGTATCAAATGCATTGAACAG	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	107	111			NA	NA	4		NA											NA				20751322		2203	4300	6503	SO:0001583	missense			AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774	80333	80333		EF-hand domain containing	30083	protein-coding gene	gene with protein product		608182			NA	11805342, 11847232	Standard	NM_025221	XM_005248190	NA	Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382148.3:c.317C>T	4.37:g.20751322G>A	ENSP00000371583:p.Ala106Val	NA	Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	37	CCDS43217.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409805	0.83340	.	.	ENSG00000185774	ENST00000382148;ENST00000447367;ENST00000382150;ENST00000413487;ENST00000382152;ENST00000509207;ENST00000359001	T;T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45;2.45	5.6	5.6	0.85130	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.22781	0.0550	N	0.21097	0.63	0.80722	D	1	D;D;D;D	0.65815	0.973;0.987;0.987;0.995	P;P;P;P	0.60886	0.741;0.88;0.88;0.842	T	0.01345	-1.1379	10	0.06236	T	0.91	.	18.3716	0.90408	0.0:0.0:1.0:0.0	.	106;110;114;131	Q3YAB9;Q3YAC0;Q3YAB7;Q6PIL6	.;.;.;KCIP4_HUMAN	V	106;97;110;69;131;69;69	ENSP00000371583:A106V;ENSP00000399080:A97V;ENSP00000371585:A110V;ENSP00000371587:A131V;ENSP00000423257:A69V;ENSP00000351892:A69V	ENSP00000351892:A69V	A	-	2	0	KCNIP4	20360420	1.000000	0.71417	0.980000	0.43619	0.884000	0.51177	9.379000	0.97198	2.623000	0.88846	0.585000	0.79938	GCA	KCNIP4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360410.3		-	ENST00000382148.3	Missense_Mutation	SNP	4 : 20751322 - 20751322 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	232	39
ZNF19	7567	broad.mit.edu	37	16	71515996	71515996	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71515996C>A	ENST00000565637.1	-	2	477				ZNF19_ENST00000564230.1_Missense_Mutation_p.A8S|ZNF19_ENST00000567225.1_Missense_Mutation_p.A8S|ZNF19_ENST00000565100.2_5'UTR|AC010547.9_ENST00000561908.1_Missense_Mutation_p.A8S|ZNF19_ENST00000288177.5_Missense_Mutation_p.A8S			P17023	ZNF19_HUMAN	zinc finger protein 19	NA						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		TGGTATTGAGCTTTCAGAGGC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	52	57			NA	NA	16		NA											NA				71515996		2198	4300	6498	SO:0001627	intron_variant			X52343	CCDS10901.1	16q22	2013-01-08	2006-05-10		ENSG00000157429	ENSG00000157429	7567	7567		Zinc fingers, C2H2-type, -	12981	protein-coding gene	gene with protein product		194525	zinc finger protein 19 (KOX 12)		NA	1505991, 1946370	Standard	NM_006961	NM_006961	NA	Approved	KOX12, MGC51021	uc002fam.1	P17023	OTTHUMG00000137593	ENST00000565637.1:c.92+2495G>T	16.37:g.71515996C>A		NA	A8K895|Q86Y66|Q8NDE2|Q96M79|Q96NE5	37		.	.	.	.	.	.	.	.	.	.	C	7.008	0.556229	0.13436	.	.	ENSG00000157429	ENST00000288177	T	0.05447	3.44	2.62	0.54	0.17163	Krueppel-associated box (1);	.	.	.	.	T	0.04998	0.0134	L	0.33668	1.02	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.40040	-0.9584	9	0.39692	T	0.17	.	5.5727	0.17206	0.1911:0.6832:0.0:0.1257	.	8	P17023	ZNF19_HUMAN	S	8	ENSP00000288177:A8S	ENSP00000288177:A8S	A	-	1	0	ZNF19	70073497	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.308000	0.08156	-0.093000	0.12396	-1.579000	0.00862	GCT	ZNF19-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000433805.1		-	ENST00000565637.1	Intron	SNP	16 : 71515996 - 71515996 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	118	31
TNN	63923	broad.mit.edu	37	1	175046648	175046648	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175046648G>A	ENST00000239462.4	+	2	207	c.94G>A	c.(94-96)Ggc>Agc	p.G32S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	32					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGAGCCTCCCGGCTGCAGCAA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	55	58			NA	NA	1		NA											NA				175046648		2203	4300	6503	SO:0001583	missense			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332	63923	63923		Fibrinogen C domain containing, Fibronectin type III domain containing	22942	protein-coding gene	gene with protein product					NA		Standard	XM_040527	NM_022093	NA	Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.94G>A	1.37:g.175046648G>A	ENSP00000239462:p.Gly32Ser	NA	B9EGP3|Q5R360	37	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	3.038	-0.198149	0.06219	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.23950	1.88	5.51	-0.53	0.11898	.	0.570052	0.18192	N	0.148793	T	0.14830	0.0358	L	0.27053	0.805	0.09310	N	1	B;B	0.26002	0.033;0.139	B;B	0.12156	0.003;0.007	T	0.13791	-1.0496	10	0.48119	T	0.1	.	9.2488	0.37543	0.5862:0.0:0.4138:0.0	.	32;32	B3KXB6;Q9UQP3	.;TENN_HUMAN	S	32	ENSP00000239462:G32S	ENSP00000239462:G32S	G	+	1	0	TNN	173313271	0.001000	0.12720	0.003000	0.11579	0.037000	0.13140	0.451000	0.21779	-0.193000	0.10415	-0.797000	0.03246	GGC	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084422.1		+	ENST00000239462.4	Missense_Mutation	SNP	1 : 175046648 - 175046648 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	411	17
PER3	8863	broad.mit.edu	37	1	7863170	7863170	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7863170G>A	ENST00000377532.3	+	8	1160	c.936G>A	c.(934-936)ctG>ctA	p.L312L	PER3_ENST00000377541.1_Silent_p.L311L|PER3_ENST00000361923.2_Silent_p.L311L			P56645	PER3_HUMAN	period circadian clock 3	311	PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TAAGCTACCTGCACCCTGAAG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													187	164	172			NA	NA	1		NA											NA				7863170		2203	4300	6503	SO:0001819	synonymous_variant			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246	8863	8863			8847	protein-coding gene	gene with protein product		603427	period (Drosophila) homolog 3, period homolog 3 (Drosophila)		NA	9427249	Standard	NM_016831	XM_005263520	NA	Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000377532.3:c.936G>A	1.37:g.7863170G>A		NA	Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	37																																																																																				PER3-001	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000003606.1		+	ENST00000377532.3	Silent	SNP	1 : 7863170 - 7863170 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	348	40
ARHGAP24	83478	broad.mit.edu	37	4	86916302	86916302	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:86916302C>T	ENST00000395184.1	+	9	1961	c.1495C>T	c.(1495-1497)Cga>Tga	p.R499*	ARHGAP24_ENST00000395183.2_Nonsense_Mutation_p.R404*|ARHGAP24_ENST00000264343.4_Nonsense_Mutation_p.R406*	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	499					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	p.R406*(1)|p.R499*(1)		breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CACAAATGTTCGAAACATGAG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Nonsense(2)	endometrium(2)											119	111	113			NA	NA	4		NA											NA				86916302		2203	4300	6503	SO:0001587	stop_gained			AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639	83478	83478		Rho GTPase activating proteins, Pleckstrin homology (PH) domain containing	25361	protein-coding gene	gene with protein product		610586			NA	11230166, 15254788	Standard	NM_031305	NM_001042669	NA	Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.1495C>T	4.37:g.86916302C>T	ENSP00000378611:p.Arg499*	NA	Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	37	CCDS34025.1	.	.	.	.	.	.	.	.	.	.	C	39	7.547352	0.98352	.	.	ENSG00000138639	ENST00000395184;ENST00000395183;ENST00000514229;ENST00000264343	.	.	.	5.87	4.01	0.46588	.	0.171377	0.49305	D	0.000143	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6745	0.68969	0.2643:0.7357:0.0:0.0	.	.	.	.	X	499;404;414;406	.	ENSP00000264343:R406X	R	+	1	2	ARHGAP24	87135326	0.634000	0.27190	0.237000	0.24090	0.097000	0.18754	1.293000	0.33353	1.443000	0.47586	0.591000	0.81541	CGA	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252815.2		+	ENST00000395184.1	Nonsense_Mutation	SNP	4 : 86916302 - 86916302 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	514	100
SLC24A5	283652	broad.mit.edu	37	15	48414088	48414088	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48414088G>A	ENST00000482911.2	+	2	197	c.156G>A	c.(154-156)tcG>tcA	p.S52S	SLC24A5_ENST00000341459.3_Silent_p.S52S|SLC24A5_ENST00000449382.2_Intron			Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	52					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		CTCCATCATCGGAGTTTCCCG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	125	124			NA	NA	15		NA											NA				48414088		2198	4297	6495	SO:0001819	synonymous_variant			AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467	283652	283652		Solute carriers	20611	protein-coding gene	gene with protein product	oculocutaneous albinism 6 (autosomal recessive)	609802	solute carrier family 24, member 5		NA	23364476	Standard	NM_205850	XM_005254308	NA	Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000482911.2:c.156G>A	15.37:g.48414088G>A		NA	Q14CT4|Q6DKH3	37																																																																																				SLC24A5-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000317357.2		+	ENST00000482911.2	Silent	SNP	15 : 48414088 - 48414088 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	541	99
MYH7	4625	broad.mit.edu	37	14	23895007	23895007	+	Missense_Mutation	SNP	G	G	A	rs121913644	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23895007G>A	ENST00000355349.3	-	20	2345	c.2183C>T	c.(2182-2184)gCg>gTg	p.A728V		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	728	Myosin head-like.		A -> V (in CMH1; in cis with M-606 gives a more severe phenotype).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AGGGATGGCCGCTGGGTTCAG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM011799	MYH7	M	rs121913644	G	VAL/ALA	1,4405		0,1,2202	97	83	87	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2183	4.9	1	14	dbSNP_133	87	2,8598	2.2+/-6.3	0,2,4298	no	missense	MYH7	NM_000257.2	64	0,3,6500	AA,AG,GG	NA	0.0233,0.0227,0.0231	benign	728/1936	23895007	3,13003	2203	4300	6503	SO:0001583	missense			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054	4625	4625		Myosins / Myosin superfamily : Class II	7577	protein-coding gene	gene with protein product		160760	myopathy, distal 1, myosin, heavy polypeptide 7, cardiac muscle, beta	CMH1, MPD1	NA	2494889, 8483915, 15322983	Standard	NM_000257	XM_005267696	NA	Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2183C>T	14.37:g.23895007G>A	ENSP00000347507:p.Ala728Val	NA	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	37	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983202	0.53827	2.27E-4	2.33E-4	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.87103	-2.21	4.88	4.88	0.63580	Myosin head, motor domain (2);	.	.	.	.	D	0.86527	0.5954	M	0.69248	2.105	0.40086	D	0.976191	B	0.12013	0.005	B	0.19946	0.027	D	0.84935	0.0862	9	0.66056	D	0.02	.	15.4006	0.74838	0.0:0.139:0.861:0.0	.	728	P12883	MYH7_HUMAN	V	728	ENSP00000347507:A728V	ENSP00000347507:A728V	A	-	2	0	MYH7	22964847	0.004000	0.15560	0.988000	0.46212	0.917000	0.54804	1.385000	0.34408	2.531000	0.85337	0.655000	0.94253	GCG	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071798.3		-	ENST00000355349.3	Missense_Mutation	SNP	14 : 23895007 - 23895007 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	376	69
STIL	6491	broad.mit.edu	37	1	47767944	47767944	+	Missense_Mutation	SNP	G	G	A	rs147160336	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47767944G>A	ENST00000360380.3	-	5	590	c.227C>T	c.(226-228)tCg>tTg	p.S76L	STIL_ENST00000371877.3_Missense_Mutation_p.S76L|STIL_ENST00000337817.5_Missense_Mutation_p.S76L|STIL_ENST00000396221.2_Missense_Mutation_p.S76L|STIL_ENST00000243182.6_Missense_Mutation_p.S76L	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	76					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				AAAGCATGACGAATTTTTTTT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	120	125	123		227,227	3.1	0.4	1	dbSNP_134	123	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	STIL	NM_001048166.1,NM_003035.2	145,145	0,4,6499	AA,AG,GG	NA	0.0349,0.0227,0.0308	benign,benign	76/1289,76/1288	47767944	4,13002	2203	4300	6503	SO:0001583	missense			M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473	6491	6491			10879	protein-coding gene	gene with protein product		181590	TAL1 (SCL) interrupting locus	SIL	NA	2209547	Standard	NM_003035	NM_003035	NA	Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.227C>T	1.37:g.47767944G>A	ENSP00000353544:p.Ser76Leu	NA	Q5T0C5|Q68CN9	37	CCDS548.1	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.420075	0.01136	2.27E-4	3.49E-4	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475;ENST00000413565	T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;1.19	5.42	3.12	0.35913	.	0.418972	0.25723	N	0.028724	T	0.07908	0.0198	N	0.00289	-1.7	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.001	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.33727	-0.9857	10	0.12103	T	0.63	0.1076	6.5954	0.22669	0.6468:0.0:0.3532:0.0	.	76;76;76;76;76	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468	.;.;.;.;STIL_HUMAN	L	76;76;76;76;76;76;80	ENSP00000353544:S76L;ENSP00000337367:S76L;ENSP00000360944:S76L;ENSP00000379523:S76L;ENSP00000243182:S76L;ENSP00000411664:S76L;ENSP00000412019:S80L	ENSP00000243182:S76L	S	-	2	0	STIL	47540531	0.582000	0.26749	0.384000	0.26145	0.240000	0.25518	3.262000	0.51538	0.374000	0.24650	-0.391000	0.06502	TCG	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021649.2		-	ENST00000360380.3	Missense_Mutation	SNP	1 : 47767944 - 47767944 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	293	12
AHCY	191	broad.mit.edu	37	20	32879233	32879233	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32879233C>T	ENST00000538132.1	-	5	852	c.466G>A	c.(466-468)Gtc>Atc	p.V156I	AHCY_ENST00000217426.2_Missense_Mutation_p.V184I	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	184					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ACCTTGGTGACGGAGTCATTG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	124	130			NA	NA	20		NA											NA				32879233		2203	4300	6503	SO:0001583	missense			M61832	CCDS13233.1, CCDS54457.1	20q11.22	2009-06-12	2009-06-12		ENSG00000101444	ENSG00000101444	191	191	3.3.1.1		343	protein-coding gene	gene with protein product		180960	S-adenosylhomocysteine hydrolase		NA	7079734, 6580258	Standard	NM_000687	NM_001161766	NA	Approved	SAHH	uc002xai.3	P23526	OTTHUMG00000140098	ENST00000538132.1:c.466G>A	20.37:g.32879233C>T	ENSP00000442820:p.Val156Ile	NA	A8K307|E1P5P2|Q96A36	37	CCDS54457.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022397	0.75275	.	.	ENSG00000101444	ENST00000217426;ENST00000538132	D;D	0.81821	-1.54;-1.54	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.77391	0.4123	L	0.42744	1.35	0.80722	D	1	B	0.23058	0.079	B	0.20577	0.03	T	0.74645	-0.3596	10	0.87932	D	0	.	19.3338	0.94306	0.0:1.0:0.0:0.0	.	184	P23526	SAHH_HUMAN	I	184;156	ENSP00000217426:V184I;ENSP00000442820:V156I	ENSP00000217426:V184I	V	-	1	0	AHCY	32342894	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.986000	0.70563	2.639000	0.89480	0.561000	0.74099	GTC	AHCY-006	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000470304.1		-	ENST00000538132.1	Missense_Mutation	SNP	20 : 32879233 - 32879233 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	468	88
TANC1	85461	broad.mit.edu	37	2	160020017	160020017	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160020017C>A	ENST00000263635.6	+	8	1143	c.906C>A	c.(904-906)ggC>ggA	p.G302G	TANC1_ENST00000454300.1_Silent_p.G196G	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	302						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						ATTCTCAGGGCTCCAGCTCAC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	63	61			NA	NA	2		NA											NA				160020017		2014	4178	6192	SO:0001819	synonymous_variant			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183	85461	85461		Ankyrin repeat domain containing, Tetratricopeptide (TTC) repeat domain containing	29364	protein-coding gene	gene with protein product	rolling pebbles homolog B (Drosophila)	611397			NA	15673434	Standard		NM_033394	NA	Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.906C>A	2.37:g.160020017C>A		NA	C9JD88|Q49AI8	37	CCDS42766.1																																																																																			TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333135.1		+	ENST00000263635.6	Silent	SNP	2 : 160020017 - 160020017 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	306	57
NLRP8	126205	broad.mit.edu	37	19	56466053	56466053	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56466053G>T	ENST00000291971.3	+	3	700	c.629G>T	c.(628-630)gGa>gTa	p.G210V	NLRP8_ENST00000590542.1_Missense_Mutation_p.G210V	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	210	NACHT.					cytoplasm	ATP binding	p.G210E(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GCCATACAGGGAGCTCCTGGG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	skin(1)											87	73	78			NA	NA	19		NA											NA				56466053		2203	4300	6503	SO:0001583	missense			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709	126205	126205		Nucleotide-binding domain and leucine rich repeat containing	22940	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8	609659	NACHT, leucine rich repeat and PYD containing 8	NALP8	NA	12563287	Standard	NM_176811	NM_176811	NA	Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.629G>T	19.37:g.56466053G>T	ENSP00000291971:p.Gly210Val	NA	Q7RTR4	37	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792438	0.31685	.	.	ENSG00000179709	ENST00000291971	D	0.88896	-2.44	2.04	0.942	0.19525	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.93621	0.7963	M	0.87900	2.915	0.09310	N	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.84005	0.0345	9	0.87932	D	0	.	6.4363	0.21825	0.0:0.308:0.692:0.0	.	210;210	Q86W28-2;Q86W28	.;NALP8_HUMAN	V	210	ENSP00000291971:G210V	ENSP00000291971:G210V	G	+	2	0	NLRP8	61157865	1.000000	0.71417	0.000000	0.03702	0.004000	0.04260	5.793000	0.69060	0.400000	0.25396	0.514000	0.50259	GGA	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457462.1		+	ENST00000291971.3	Missense_Mutation	SNP	19 : 56466053 - 56466053 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	439	69
NUP85	79902	broad.mit.edu	37	17	73231271	73231271	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73231271G>T	ENST00000579298.1	+	17	1751	c.1709G>T	c.(1708-1710)gGa>gTa	p.G570V	NUP85_ENST00000540768.1_Missense_Mutation_p.G218V|NUP85_ENST00000541827.1_Missense_Mutation_p.G569V|NUP85_ENST00000245544.4_Missense_Mutation_p.G615V|NUP85_ENST00000579324.1_Missense_Mutation_p.G503V|NUP85_ENST00000447371.2_3'UTR			Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	615					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CCTGTGCATGGAGAATCTGAT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	151	161			NA	NA	17		NA											NA				73231271		2203	4300	6503	SO:0001583	missense			AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450	79902	79902			8734	protein-coding gene	gene with protein product		170285			NA	8124707	Standard	NM_024844	XM_005257690	NA	Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000579298.1:c.1709G>T	17.37:g.73231271G>T	ENSP00000462749:p.Gly570Val	NA	Q8NDI4|Q9H9U1	37		.	.	.	.	.	.	.	.	.	.	G	10.19	1.280888	0.23392	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000540768	.	.	.	5.12	-2.26	0.06867	.	1.114660	0.06493	N	0.734919	T	0.22475	0.0542	N	0.08118	0	0.09310	N	1	B;B	0.20671	0.047;0.047	B;B	0.14023	0.01;0.01	T	0.22417	-1.0217	9	0.34782	T	0.22	-0.0383	9.9975	0.41909	0.1515:0.594:0.2545:0.0	.	569;615	B4DMQ3;Q9BW27	.;NUP85_HUMAN	V	615;569;218	.	ENSP00000245544:G615V	G	+	2	0	NUP85	70742866	0.011000	0.17503	0.000000	0.03702	0.010000	0.07245	0.106000	0.15354	-0.503000	0.06586	0.462000	0.41574	GGA	NUP85-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000446625.1		+	ENST00000579298.1	Missense_Mutation	SNP	17 : 73231271 - 73231271 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	50
ANKK1	255239	broad.mit.edu	37	11	113266921	113266921	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113266921C>T	ENST00000303941.3	+	5	909	c.815C>T	c.(814-816)cCc>cTc	p.P272L		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	272	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GACCAGGACCCCAAGAAGAGG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	96	94			NA	NA	11		NA											NA				113266921		1970	4134	6104	SO:0001583	missense			AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209	255239	255239		Ankyrin repeat domain containing	21027	protein-coding gene	gene with protein product		608774			NA	15146457	Standard	NM_178510	NM_178510	NA	Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.815C>T	11.37:g.113266921C>T	ENSP00000306678:p.Pro272Leu	NA		37	CCDS44734.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.357838	0.24598	.	.	ENSG00000170209	ENST00000303941	T	0.46819	0.86	4.44	4.44	0.53790	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.139368	0.32161	U	0.006485	T	0.60143	0.2246	M	0.90977	3.165	0.50039	D	0.99984	B	0.22746	0.074	B	0.26202	0.067	T	0.67534	-0.5646	10	0.66056	D	0.02	-30.2474	16.2135	0.82186	0.0:1.0:0.0:0.0	.	272	Q8NFD2	ANKK1_HUMAN	L	272	ENSP00000306678:P272L	ENSP00000306678:P272L	P	+	2	0	ANKK1	112772131	0.037000	0.19845	1.000000	0.80357	0.015000	0.08874	0.365000	0.20348	2.285000	0.76669	0.462000	0.41574	CCC	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395830.1		+	ENST00000303941.3	Missense_Mutation	SNP	11 : 113266921 - 113266921 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	599	77
ARHGAP5	394	broad.mit.edu	37	14	32561798	32561798	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:32561798G>A	ENST00000345122.3	+	2	2238	c.1923G>A	c.(1921-1923)tcG>tcA	p.S641S	ARHGAP5_ENST00000556611.1_Silent_p.S641S|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Silent_p.S641S|ARHGAP5_ENST00000432921.1_Silent_p.S641S|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	641					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATGCCAAATCGCCTTACTTTT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(9;77 350 3443 29227 41353)							NA				0													140	138	138			NA	NA	14		NA											NA				32561798		2203	4300	6503	SO:0001819	synonymous_variant			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05					394	394		Rho GTPase activating proteins	675	protein-coding gene	gene with protein product		602680	growth factor independent 2	GFI2	NA	8537347	Standard	NM_001030055	XM_005267635	NA	Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.1923G>A	14.37:g.32561798G>A		NA	A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	37	CCDS32062.1																																																																																			ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409735.1		+	ENST00000345122.3	Silent	SNP	14 : 32561798 - 32561798 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	930	183
CYP4F2	8529	broad.mit.edu	37	19	15990671	15990671	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15990671G>T	ENST00000221700.6	-	10	1247	c.1152C>A	c.(1150-1152)tgC>tgA	p.C384*		NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	NA					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCTCCTTCATGCACATGGTCA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	103	102			NA	NA	19		NA											NA				15990671		2203	4300	6503	SO:0001587	stop_gained			U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115	8529	8529		Cytochrome P450s	2645	protein-coding gene	gene with protein product		604426	cytochrome P450, subfamily IVF, polypeptide 2		NA	8424651, 8026587	Standard	NM_001082	NM_001082	NA	Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.1152C>A	19.37:g.15990671G>T	ENSP00000221700:p.Cys384*	NA	A8K425|Q16677|Q6NWT4|Q6NWT6|Q9NNZ0|Q9UIU8	37	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	g	17.83	3.486683	0.63962	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	.	.	.	2.78	0.58	0.17402	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.332	0.21274	0.2863:0.0:0.7137:0.0	.	.	.	.	X	384;235	.	ENSP00000221700:C384X	C	-	3	2	CYP4F2	15851671	1.000000	0.71417	0.985000	0.45067	0.434000	0.31775	3.838000	0.55828	0.469000	0.27268	0.491000	0.48974	TGC	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460372.3		-	ENST00000221700.6	Nonsense_Mutation	SNP	19 : 15990671 - 15990671 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	749	26
C7	730	broad.mit.edu	37	5	40972682	40972682	+	Missense_Mutation	SNP	G	G	A	rs113187203		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:40972682G>A	ENST00000313164.9	+	15	2419	c.2060G>A	c.(2059-2061)cGc>cAc	p.R687H	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	687	Sushi 2.		R -> H (in C7D).		complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex					NA		Ovarian(839;0.0112)				AAGAATGCCCGCTGTGTACAA	0.498		NA											G	0	0	NA	NA	2184	NA	0.9998	,	,	NA	3e-04	NA	NA	NA	1e-04	0.0498	EXOME	NA	NA	0.0016	SNP								NA				0			GRCh37	CM980286	C7	M	rs113187203	G	HIS/ARG	11,4087		0,11,2038	158	153	155		2060	-4.2	0	5	dbSNP_132	155	0,8416		0,0,4208	yes	missense	C7	NM_000587.2	29	0,11,6246	AA,AG,GG	NA	0.0,0.2684,0.0879	benign	687/844	40972682	11,12503	2049	4208	6257	SO:0001583	missense			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936	730	730		Complement system	1346	protein-coding gene	gene with protein product		217070			NA		Standard		NM_000587	NA	Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.2060G>A	5.37:g.40972682G>A	ENSP00000322061:p.Arg687His	NA	Q6P3T5|Q92489	37	CCDS47201.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	5.568	0.289660	0.10567	0.002684	0.0	ENSG00000112936	ENST00000313164	T	0.65549	-0.16	5.93	-4.15	0.03881	Complement control module (1);Sushi/SCR/CCP (2);	1.012530	0.07905	N	0.973392	T	0.37705	0.1013	N	0.05078	-0.115	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.23440	-1.0188	10	0.22706	T	0.39	-0.4173	13.1334	0.59395	0.5021:0.0:0.4979:0.0	.	687	P10643	CO7_HUMAN	H	687	ENSP00000322061:R687H	ENSP00000322061:R687H	R	+	2	0	C7	41008439	0.000000	0.05858	0.006000	0.13384	0.522000	0.34438	0.096000	0.15147	-1.073000	0.03137	-0.229000	0.12294	CGC	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317680.1		+	ENST00000313164.9	Missense_Mutation	SNP	5 : 40972682 - 40972682 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	761	76
USH2A	7399	broad.mit.edu	37	1	216243446	216243446	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216243446T>C	ENST00000307340.3	-	30	6432	c.6046A>G	c.(6046-6048)Aca>Gca	p.T2016A	USH2A_ENST00000366943.2_Missense_Mutation_p.T2016A	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2016	Fibronectin type-III 6.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CATTTACCTGTGAGGTTGCTT	0.378		NA								HNSCC(13;0.011)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	89	89			NA	NA	1		NA											NA				216243446		2203	4300	6503	SO:0001583	missense			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781	7399	7399		Fibronectin type III domain containing	12601	protein-coding gene	gene with protein product	usherin	608400		USH2	NA	9624053, 10729113	Standard	NM_007123	NM_007123	NA	Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6046A>G	1.37:g.216243446T>C	ENSP00000305941:p.Thr2016Ala	NA	Q5VVM9|Q6S362|Q9NS27	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.532906	0.45073	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.58506	0.33;0.33	5.47	-1.0	0.10196	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.761040	0.10938	N	0.617623	T	0.46580	0.1400	M	0.64404	1.975	0.28700	N	0.904138	B	0.28128	0.201	B	0.28232	0.087	T	0.38650	-0.9651	10	0.17369	T	0.5	.	5.0131	0.14322	0.2222:0.1171:0.0:0.6607	.	2016	O75445	USH2A_HUMAN	A	2016	ENSP00000305941:T2016A;ENSP00000355910:T2016A	ENSP00000305941:T2016A	T	-	1	0	USH2A	214310069	0.991000	0.36638	0.014000	0.15608	0.206000	0.24218	1.313000	0.33585	-0.461000	0.06993	-0.479000	0.04858	ACA	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128138.1		-	ENST00000307340.3	Missense_Mutation	SNP	1 : 216243446 - 216243446 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	318	47
TTF2	8458	broad.mit.edu	37	1	117618864	117618864	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117618864A>C	ENST00000369466.4	+	6	1382	c.1338A>C	c.(1336-1338)caA>caC	p.Q446H		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	NA					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TGATCAAACAAATCCAGGAGC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	96	98			NA	NA	1		NA											NA				117618864		2203	4300	6503	SO:0001583	missense			AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830	8458	8458			12398	protein-coding gene	gene with protein product	zinc finger, GRF-type containing 6	604718			NA	9748214	Standard		NM_003594	NA	Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.1338A>C	1.37:g.117618864A>C	ENSP00000358478:p.Gln446His	NA	A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	37	CCDS892.1	.	.	.	.	.	.	.	.	.	.	A	12.75	2.031989	0.35893	.	.	ENSG00000116830	ENST00000369466	D	0.88509	-2.39	5.41	1.8	0.24995	.	0.000000	0.36101	N	0.002792	D	0.90580	0.7047	M	0.77103	2.36	0.48135	D	0.999592	D;D	0.89917	1.0;1.0	D;D	0.91635	0.987;0.999	D	0.89087	0.3480	10	0.62326	D	0.03	-15.3366	7.9556	0.30040	0.6752:0.0:0.3248:0.0	.	446;446	Q9UNY4;Q9UNY4-2	TTF2_HUMAN;.	H	446	ENSP00000358478:Q446H	ENSP00000358478:Q446H	Q	+	3	2	TTF2	117420387	1.000000	0.71417	0.964000	0.40570	0.023000	0.10783	1.772000	0.38552	0.104000	0.17725	-1.144000	0.01866	CAA	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033277.3		+	ENST00000369466.4	Missense_Mutation	SNP	1 : 117618864 - 117618864 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	262	52
MORN3	283385	broad.mit.edu	37	12	122107335	122107335	+	Missense_Mutation	SNP	G	G	A	rs35779661	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122107335G>A	ENST00000355329.3	-	1	225	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	19										breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		TGGGCCTTCCGGTCCCACCCC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG	0,4406		0,0,2203	127	111	117		55	2.3	0.4	12	dbSNP_126	117	8,8592	6.4+/-24.3	0,8,4292	yes	missense	MORN3	NM_173855.4	101	0,8,6495	AA,AG,GG	NA	0.093,0.0,0.0615	probably-damaging	19/241	122107335	8,12998	2203	4300	6503	SO:0001583	missense			BC057760	CCDS31917.1	12q24.31	2006-01-17			ENSG00000139714	ENSG00000139714	283385	283385			29807	protein-coding gene	gene with protein product					NA		Standard	NM_173855	NM_173855	NA	Approved		uc001uax.3	Q6PF18	OTTHUMG00000169075	ENST00000355329.3:c.55C>T	12.37:g.122107335G>A	ENSP00000347486:p.Arg19Trp	NA	Q86YQ9	37	CCDS31917.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450955	0.43531	0.0	9.3E-4	ENSG00000139714	ENST00000355329	T	0.73363	-0.74	5.32	2.34	0.29019	.	1.198000	0.06160	N	0.675752	T	0.70945	0.3282	L	0.50333	1.59	0.32464	N	0.543759	D	0.56287	0.975	B	0.43809	0.432	T	0.65672	-0.6111	10	0.56958	D	0.05	.	8.2315	0.31601	0.0:0.1542:0.5267:0.3191	rs35779661	19	Q6PF18	MORN3_HUMAN	W	19	ENSP00000347486:R19W	ENSP00000347486:R19W	R	-	1	2	MORN3	120591718	0.599000	0.26891	0.356000	0.25785	0.892000	0.51952	0.652000	0.24888	0.268000	0.21939	0.462000	0.41574	CGG	MORN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402154.1		-	ENST00000355329.3	Missense_Mutation	SNP	12 : 122107335 - 122107335 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	754	127
AMHR2	269	broad.mit.edu	37	12	53825160	53825160	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53825160T>A	ENST00000379791.3	+	9	1340	c.1340T>A	c.(1339-1341)cTc>cAc	p.L447H	AMHR2_ENST00000550311.1_3'UTR|AMHR2_ENST00000257863.4_Missense_Mutation_p.L542H	NM_001164691.1	NP_001158163.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	542	Protein kinase.		Missing (in PMDS2).		Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CCTACCATCCTCCCCTGTAGG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	103	109			NA	NA	12		NA											NA				53825160		2203	4300	6503	SO:0001583	missense			AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14					269	269			465	protein-coding gene	gene with protein product	Muellerian inhibiting substance type II receptor	600956			NA	7493017	Standard	NM_020547	NM_001164690	NA	Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000379791.3:c.1340T>A	12.37:g.53825160T>A	ENSP00000369117:p.Leu447His	NA	A0AVE1|B9EGB7|Q13762	37	CCDS53798.1	.	.	.	.	.	.	.	.	.	.	T	11.88	1.771421	0.31320	.	.	ENSG00000135409	ENST00000257863;ENST00000379791	D;D	0.94687	-3.44;-3.49	4.86	2.52	0.30459	.	0.512495	0.14745	N	0.300902	D	0.89371	0.6696	N	0.19112	0.55	0.09310	N	1	P	0.51653	0.947	P	0.47206	0.541	T	0.82414	-0.0469	10	0.87932	D	0	.	5.5994	0.17345	0.0:0.2264:0.0:0.7736	.	542	Q16671	AMHR2_HUMAN	H	542;447	ENSP00000257863:L542H;ENSP00000369117:L447H	ENSP00000257863:L542H	L	+	2	0	AMHR2	52111427	0.000000	0.05858	0.215000	0.23724	0.606000	0.37113	-0.026000	0.12392	0.973000	0.38340	0.460000	0.39030	CTC	AMHR2-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407050.1		+	ENST00000379791.3	Missense_Mutation	SNP	12 : 53825160 - 53825160 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	521	102
EPHA1	2041	broad.mit.edu	37	7	143088579	143088579	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143088579G>T	ENST00000275815.3	-	18	2988	c.2902C>A	c.(2902-2904)Ctt>Att	p.L968I		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	968	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				ATACTGCAAAGAATGCGCTTC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	61	73			NA	NA	7		NA											NA				143088579		2203	4300	6503	SO:0001583	missense			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2041	2041	2.7.10.1	EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3385	protein-coding gene	gene with protein product		179610	EphA1	EPHT, EPHT1	NA	9267020	Standard		NM_005232	NA	Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.2902C>A	7.37:g.143088579G>T	ENSP00000275815:p.Leu968Ile	NA	A1L3V3|Q15405	37	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557575	0.65425	.	.	ENSG00000146904	ENST00000275815	T	0.57907	0.37	5.24	5.24	0.73138	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.51477	D	0.000084	T	0.60405	0.2266	L	0.49126	1.545	0.45025	D	0.99804	D	0.57571	0.98	P	0.55577	0.779	T	0.59648	-0.7415	10	0.48119	T	0.1	.	14.2692	0.66140	0.0729:0.0:0.9271:0.0	.	968	P21709	EPHA1_HUMAN	I	968	ENSP00000275815:L968I	ENSP00000275815:L968I	L	-	1	0	EPHA1	142798701	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	2.626000	0.46460	2.724000	0.93272	0.561000	0.74099	CTT	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342154.1		-	ENST00000275815.3	Missense_Mutation	SNP	7 : 143088579 - 143088579 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	211	35
SMARCA2	6595	broad.mit.edu	37	9	2104068	2104068	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2104068C>T	ENST00000382203.1	+	23	3400	c.3191C>T	c.(3190-3192)gCg>gTg	p.A1064V	SMARCA2_ENST00000382194.1_Missense_Mutation_p.A1064V|SMARCA2_ENST00000349721.2_Missense_Mutation_p.A1064V|SMARCA2_ENST00000357248.2_Missense_Mutation_p.A1064V			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1064	Helicase C-terminal.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AAATTGAGAGCGACTAATCAC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													229	210	217			NA	NA	9		NA											NA				2104068		2203	4300	6503	SO:0001583	missense			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503	6595	6595			11098	protein-coding gene	gene with protein product		600014		SNF2L2	NA	8012116	Standard	NM_003070	NM_003070	NA	Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3191C>T	9.37:g.2104068C>T	ENSP00000371638:p.Ala1064Val	NA	B1ALG3|B1ALG4|D3DRH4|D3DRH5	37	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	C	35	5.440013	0.96168	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.69	5.69	0.88448	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89743	0.6803	M	0.84511	2.7	0.80722	D	1	B;D;D	0.76494	0.347;0.999;0.999	B;D;D	0.78314	0.048;0.991;0.98	D	0.90030	0.4134	10	0.56958	D	0.05	-21.8405	19.8145	0.96560	0.0:1.0:0.0:0.0	.	665;1064;1064	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	V	1064	ENSP00000265773:A1064V;ENSP00000349788:A1064V;ENSP00000371638:A1064V;ENSP00000371629:A1064V	ENSP00000265773:A1064V	A	+	2	0	SMARCA2	2094068	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.050000	0.71063	2.683000	0.91414	0.563000	0.77884	GCG	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051505.1		+	ENST00000382203.1	Missense_Mutation	SNP	9 : 2104068 - 2104068 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	814	135
ANKRD52	283373	broad.mit.edu	37	12	56641840	56641840	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56641840G>A	ENST00000267116.7	-	18	2066	c.1945C>T	c.(1945-1947)Cgc>Tgc	p.R649C		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	649							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						TTGCGCTTGCGCTCCTTGATG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	33	31			NA	NA	12		NA											NA				56641840		2063	4196	6259	SO:0001583	missense			AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645	283373	283373		Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits, Ankyrin repeat domain containing	26614	protein-coding gene	gene with protein product	protein phosphatase 6 ankyrin repeat subunit C				NA		Standard	NM_173595	NM_173595	NA	Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.1945C>T	12.37:g.56641840G>A	ENSP00000267116:p.Arg649Cys	NA	A6NE79|B1Q2K2	37	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.147421	0.57151	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.16196	2.36	4.42	4.42	0.53409	Ankyrin repeat-containing domain (2);	0.175676	0.47455	D	0.000236	T	0.11793	0.0287	N	0.17474	0.49	0.51012	D	0.999909	D	0.54397	0.966	B	0.42882	0.401	T	0.03148	-1.1067	10	0.52906	T	0.07	.	12.0765	0.53647	0.0:0.0:0.8272:0.1728	.	649	Q8NB46	ANR52_HUMAN	C	649	ENSP00000267116:R649C	ENSP00000267116:R649C	R	-	1	0	ANKRD52	54928107	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.148000	0.42235	2.474000	0.83562	0.467000	0.42956	CGC	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408539.1		-	ENST00000267116.7	Missense_Mutation	SNP	12 : 56641840 - 56641840 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	185	35
KIF21A	55605	broad.mit.edu	37	12	39713771	39713771	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:39713771G>T	ENST00000361961.3	-	27	4096	c.3677C>A	c.(3676-3678)tCt>tAt	p.S1226Y	KIF21A_ENST00000544797.2_Missense_Mutation_p.S1219Y|KIF21A_ENST00000547745.1_5'UTR|KIF21A_ENST00000361418.5_Missense_Mutation_p.S1239Y|KIF21A_ENST00000541463.2_Missense_Mutation_p.S1203Y|KIF21A_ENST00000395670.3_Missense_Mutation_p.S1239Y	NM_001173464.1|NM_017641.3	NP_001166935.1|NP_060111.2	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1239					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TGTTACAGGAGAAGGCTCTGG	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	93	98			NA	NA	12		NA											NA				39713771		2201	4300	6501	SO:0001583	missense			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10					55605	55605		Kinesins, WD repeat domain containing	19349	protein-coding gene	gene with protein product		608283	fibrosis of the extraocular muscles, congenital, 1	FEOM1	NA	10225949	Standard	NM_017641	NM_017641	NA	Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361961.3:c.3677C>A	12.37:g.39713771G>T	ENSP00000354851:p.Ser1226Tyr	NA	A8MX28|B0I1R9|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	37	CCDS31773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.771470|4.771470	0.90108|0.90108	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000552961|ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000544797;ENST00000361418;ENST00000541463	.|T;T;T;T;T;T	.|0.73363	.|-0.66;-0.67;0.1;-0.74;-0.56;-0.73	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|0.000000	.|0.49916	.|D	.|0.000138	D|D	0.86826|0.86826	0.6026|0.6026	M|M	0.73962|0.73962	2.25|2.25	0.53688|0.53688	D|D	0.999974|0.999974	.|P;D;P;D;D;D	.|0.89917	.|0.946;0.978;0.952;0.978;1.0;1.0	.|P;P;P;P;D;D	.|0.78314	.|0.735;0.804;0.781;0.804;0.991;0.989	D|D	0.87375|0.87375	0.2353|0.2353	5|10	.|0.87932	.|D	.|0	.|.	19.9598|19.9598	0.97242|0.97242	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1219;1203;1239;1226;1239;286	.|F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3;F5H0V8	.|.;.;KI21A_HUMAN;.;.;.	I|Y	587|1226;1239;1239;286;280;1219;1239;1203	.|ENSP00000354851:S1226Y;ENSP00000379029:S1239Y;ENSP00000448792:S280Y;ENSP00000445606:S1219Y;ENSP00000354878:S1239Y;ENSP00000438075:S1203Y	.|ENSP00000344501:S1239Y	L|S	-|-	1|2	0|0	KIF21A|KIF21A	38000038|38000038	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	8.318000|8.318000	0.89990|0.89990	2.716000|2.716000	0.92895|0.92895	0.655000|0.655000	0.94253|0.94253	CTC|TCT	KIF21A-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403577.1		-	ENST00000361961.3	Missense_Mutation	SNP	12 : 39713771 - 39713771 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	86	14
FSCN3	29999	broad.mit.edu	37	7	127235810	127235810	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127235810C>A	ENST00000265825.5	+	2	813	c.594C>A	c.(592-594)ttC>ttA	p.F198L	FSCN3_ENST00000420086.2_Missense_Mutation_p.F64L	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	198						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CACACCACTTCTTGTCCCATG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	146	158			NA	NA	7		NA											NA				127235810		2203	4300	6503	SO:0001583	missense				CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328	29999	29999		Fascins	3961	protein-coding gene	gene with protein product		615800	fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular), fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)		NA	11925108	Standard	NM_020369	NM_020369	NA	Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.594C>A	7.37:g.127235810C>A	ENSP00000265825:p.Phe198Leu	NA	A4D0Z2|A6NLL7|B2RA62	37	CCDS34746.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496496	0.64186	.	.	ENSG00000106328	ENST00000265825;ENST00000420086	T;T	0.52526	1.28;0.66	5.44	1.53	0.23141	Actin cross-linking (1);	0.000000	0.64402	D	0.000005	T	0.56529	0.1991	L	0.55103	1.725	0.32960	D	0.520866	D;D	0.76494	0.997;0.999	P;P	0.62740	0.906;0.874	T	0.64807	-0.6320	10	0.49607	T	0.09	-32.0539	10.5591	0.45135	0.0:0.6852:0.0:0.3148	.	64;198	B4DU68;Q9NQT6	.;FSCN3_HUMAN	L	198;64	ENSP00000265825:F198L;ENSP00000412243:F64L	ENSP00000265825:F198L	F	+	3	2	FSCN3	127023046	0.250000	0.23951	0.911000	0.35937	0.912000	0.54170	0.019000	0.13444	0.088000	0.17205	-0.813000	0.03139	TTC	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059256.2		+	ENST00000265825.5	Missense_Mutation	SNP	7 : 127235810 - 127235810 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	479	94
CST9L	128821	broad.mit.edu	37	20	23548955	23548955	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23548955G>A	ENST00000376979.3	-	1	431	c.133C>T	c.(133-135)Cgt>Tgt	p.R45C		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	45						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GGGAGGTAACGAGCCATGACA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	120	131			NA	NA	20		NA											NA				23548955		2203	4300	6503	SO:0001583	missense				CCDS13157.1	20p11.21	2012-08-14	2008-03-06		ENSG00000101435	ENSG00000101435	128821	128821			16233	protein-coding gene	gene with protein product			cystatin 9 (mouse)-like		NA	20565543	Standard	NM_080610	NM_080610	NA	Approved	bA218C14.1, CTES7B	uc002wtk.4	Q9H4G1	OTTHUMG00000032073	ENST00000376979.3:c.133C>T	20.37:g.23548955G>A	ENSP00000366178:p.Arg45Cys	NA	B2R5A1	37	CCDS13157.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925552	0.52759	.	.	ENSG00000101435	ENST00000376979	T	0.12984	2.63	1.75	-3.11	0.05299	Proteinase inhibitor I25, cystatin (1);	12.943200	0.00166	N	0.000000	T	0.17492	0.0420	L	0.29908	0.895	0.09310	N	1	D	0.64830	0.994	P	0.56088	0.791	T	0.18023	-1.0350	10	0.59425	D	0.04	.	4.0382	0.09740	0.0:0.2234:0.3274:0.4491	.	45	Q9H4G1	CST9L_HUMAN	C	45	ENSP00000366178:R45C	ENSP00000366178:R45C	R	-	1	0	CST9L	23496955	0.000000	0.05858	0.000000	0.03702	0.762000	0.43233	-3.436000	0.00471	-0.674000	0.05253	0.313000	0.20887	CGT	CST9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078338.1		-	ENST00000376979.3	Missense_Mutation	SNP	20 : 23548955 - 23548955 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	290	30
AK2	204	broad.mit.edu	37	1	33487216	33487216	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33487216C>T	ENST00000487289.1	-	3	323	c.308G>A	c.(307-309)cGg>cAg	p.R103Q	AK2_ENST00000354858.6_Missense_Mutation_p.R103Q|AK2_ENST00000480134.1_Missense_Mutation_p.R103Q|AK2_ENST00000373449.2_Missense_Mutation_p.R103Q|AK2_ENST00000467905.1_Missense_Mutation_p.R103Q|RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000548033.1_Missense_Mutation_p.R61Q			P54819	KAD2_HUMAN	adenylate kinase 2	103			R -> W (in RDYS).		nucleobase, nucleoside and nucleotide interconversion	mitochondrial intermembrane space	adenylate kinase activity|ATP binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CCTCACAGTCCGAGGGAAGCC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	49	48			NA	NA	1		NA											NA				33487216		2203	4300	6503	SO:0001583	missense			U84371	CCDS373.1, CCDS374.1	1p35.1	2014-09-17			ENSG00000004455	ENSG00000004455	204	204	2.7.4.3	Adenylate kinases	362	protein-coding gene	gene with protein product		103020			NA	8843353, 6961883	Standard	NM_001625	NM_013411	NA	Approved		uc001bwp.2	P54819	OTTHUMG00000004131	ENST00000487289.1:c.308G>A	1.37:g.33487216C>T	ENSP00000446849:p.Arg103Gln	NA	A8K6L1|B4DHH7|B4DL64|Q16856|Q5EB54|Q5TIF7|Q8TCY2|Q8TCY3	37		.	.	.	.	.	.	.	.	.	.	C	25.8	4.676763	0.88445	.	.	ENSG00000004455	ENST00000373449;ENST00000548033;ENST00000467905;ENST00000480134;ENST00000354858;ENST00000398192;ENST00000487289	D;D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17;-2.17	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.95519	0.8544	H	0.99967	5.1	0.80722	D	1	B;B;B;B	0.34255	0.15;0.018;0.445;0.15	B;B;B;B	0.40009	0.084;0.01;0.316;0.084	D	0.95841	0.8866	10	0.72032	D	0.01	-11.1021	20.1745	0.98175	0.0:1.0:0.0:0.0	.	103;61;103;103	P54819-5;F8VY04;P54819;P54819-2	.;.;KAD2_HUMAN;.	Q	103;61;103;103;103;103;103	ENSP00000362548:R103Q;ENSP00000449003:R61Q;ENSP00000447082:R103Q;ENSP00000450109:R103Q;ENSP00000346921:R103Q;ENSP00000446849:R103Q	ENSP00000346921:R103Q	R	-	2	0	AK2	33259803	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.695000	0.68279	2.941000	0.99782	0.655000	0.94253	CGG	AK2-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000011889.4		-	ENST00000487289.1	Missense_Mutation	SNP	1 : 33487216 - 33487216 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	251	65
TTN	7273	broad.mit.edu	37	2	179466617	179466617	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179466617C>T	ENST00000589042.1	-	285	55518	c.55294G>A	c.(55294-55296)Gat>Aat	p.D18432N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D15864N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D16791N|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D9559N|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D9492N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D9367N|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16791							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			aCCTGTGCATCTTCGGGTATG	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	67	68			NA	NA	2		NA											NA				179466617		1803	4075	5878	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.55294G>A	2.37:g.179466617C>T	ENSP00000467141:p.Asp18432Asn	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.557858	0.27827	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	6.07	6.07	0.98685	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69242	0.3089	M	0.63843	1.955	0.44247	D	0.997092	B;B;B;B	0.21606	0.026;0.026;0.026;0.058	B;B;B;B	0.24394	0.053;0.053;0.053;0.043	T	0.65290	-0.6204	9	0.87932	D	0	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	9367;9492;9559;16791	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	15864;9367;9559;9492;9367	ENSP00000343764:D15864N;ENSP00000434586:D9367N;ENSP00000340554:D9559N;ENSP00000352154:D9492N	ENSP00000340554:D9559N	D	-	1	0	TTN	179174862	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	4.015000	0.57152	2.885000	0.99019	0.655000	0.94253	GAT	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179466617 - 179466617 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	45
OR51I2	390064	broad.mit.edu	37	11	5475516	5475516	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5475516G>A	ENST00000341449.2	+	1	879	c.798G>A	c.(796-798)aaG>aaA	p.K266K	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTTTGGGAAGCATGTCCCAT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													220	187	198			NA	NA	11		NA											NA				5475516		2201	4297	6498	SO:0001819	synonymous_variant			BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918	390064	390064		GPCR / Class A : Olfactory receptors	15201	protein-coding gene	gene with protein product					NA		Standard	NM_001004754	NM_001004754	NA	Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.798G>A	11.37:g.5475516G>A		NA	Q6IF81	37	CCDS31383.1																																																																																			OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000143385.1		+	ENST00000341449.2	Silent	SNP	11 : 5475516 - 5475516 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	828	169
KRIT1	889	broad.mit.edu	37	7	91870376	91870376	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91870376T>C	ENST00000340022.2	-	5	1211	c.193A>G	c.(193-195)Aca>Gca	p.T65A	KRIT1_ENST00000412043.2_Missense_Mutation_p.T65A|KRIT1_ENST00000394503.2_Missense_Mutation_p.T65A|KRIT1_ENST00000394505.2_Missense_Mutation_p.T65A|KRIT1_ENST00000394507.1_Missense_Mutation_p.T65A	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	65					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATGCCTTGTGTTATTTCACTG	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													215	192	200			NA	NA	7		NA											NA				91870376		2203	4300	6503	SO:0001583	missense			AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631	889	889		Ankyrin repeat domain containing	1573	protein-coding gene	gene with protein product		604214	cerebral cavernous malformations 1	CCM1	NA	7604043, 11342228	Standard		NM_194455	NA	Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.193A>G	7.37:g.91870376T>C	ENSP00000344668:p.Thr65Ala	NA	O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	37	CCDS5624.1	.	.	.	.	.	.	.	.	.	.	T	11.73	1.724442	0.30593	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503;ENST00000415227;ENST00000458177;ENST00000433016;ENST00000454017;ENST00000440209;ENST00000430102;ENST00000413688;ENST00000458493	T;T;T;T;T;D;D;D	0.85702	1.05;1.05;1.05;1.05;-0.49;-2.02;-1.61;-1.61	6.08	2.23	0.28157	.	0.224065	0.45867	N	0.000337	T	0.61540	0.2355	N	0.04508	-0.205	0.33513	D	0.591426	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.52756	-0.8533	10	0.15499	T	0.54	.	3.9012	0.09162	0.2657:0.1413:0.0:0.593	.	65;65	A6NNU0;O00522	.;KRIT1_HUMAN	A	65	ENSP00000378015:T65A;ENSP00000344668:T65A;ENSP00000410909:T65A;ENSP00000378013:T65A;ENSP00000378011:T65A;ENSP00000391675:T65A;ENSP00000410104:T65A;ENSP00000405835:T65A	ENSP00000344668:T65A	T	-	1	0	KRIT1	91708312	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.893000	0.39758	0.533000	0.28675	-0.336000	0.08194	ACA	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253910.1		-	ENST00000340022.2	Missense_Mutation	SNP	7 : 91870376 - 91870376 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	429	99
ZNF652	22834	broad.mit.edu	37	17	47376251	47376251	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47376251T>G	ENST00000362063.2	-	6	1663	c.1345A>C	c.(1345-1347)Agc>Cgc	p.S449R	ZNF652_ENST00000430262.2_Missense_Mutation_p.S449R	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			CTGGTGAAGCTTTTGCCACAG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	50	50			NA	NA	17		NA											NA				47376251		2203	4300	6503	SO:0001583	missense			AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740	22834	22834		Zinc fingers, C2H2-type	29147	protein-coding gene	gene with protein product		613907			NA	10231032	Standard	NM_014897	NM_014897	NA	Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.1345A>C	17.37:g.47376251T>G	ENSP00000354686:p.Ser449Arg	NA	A4QPD9|Q5H9Q0	37	CCDS32677.1	.	.	.	.	.	.	.	.	.	.	T	19.30	3.801187	0.70567	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	T;T	0.08193	3.12;3.12	4.81	2.6	0.31112	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.041428	0.85682	D	0.000000	T	0.12178	0.0296	N	0.25992	0.78	0.49915	D	0.999832	D	0.56746	0.977	P	0.59357	0.856	T	0.03566	-1.1024	10	0.51188	T	0.08	-15.5289	8.741	0.34558	0.0:0.157:0.0:0.843	.	449	Q9Y2D9	ZN652_HUMAN	R	449	ENSP00000354686:S449R;ENSP00000416305:S449R	ENSP00000354686:S449R	S	-	1	0	ZNF652	44731250	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.847000	0.86896	0.351000	0.24027	0.402000	0.26972	AGC	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364524.1		-	ENST00000362063.2	Missense_Mutation	SNP	17 : 47376251 - 47376251 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	305	67
USH1C	10083	broad.mit.edu	37	11	17517163	17517163	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17517163G>A	ENST00000005226.7	-	26	2607	c.2608C>T	c.(2608-2610)Cgt>Tgt	p.R870C	USH1C_ENST00000527720.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000529563.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						ACGGCAGCACGGTCTTCAAGG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	119	117			NA	NA	11		NA											NA				17517163		2200	4293	6493	SO:0001583	missense			AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611	10083	10083			12597	protein-coding gene	gene with protein product	harmonin	605242	deafness, autosomal recessive 18	DFNB18	NA	10973247, 12107438	Standard	NM_005709	NM_005709	NA	Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000005226.7:c.2608C>T	11.37:g.17517163G>A	ENSP00000005226:p.Arg870Cys	NA	A8K423|Q96B29|Q9UM04|Q9UM17|Q9UPC3	37	CCDS7825.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.888013	0.33348	.	.	ENSG00000006611	ENST00000005226	T	0.24151	1.87	5.47	-8.1	0.01086	.	0.853604	0.10059	N	0.721166	T	0.10337	0.0253	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.23797	-1.0178	9	0.39692	T	0.17	.	0.8868	0.01246	0.3703:0.2741:0.1379:0.2176	.	870	Q7RTU8	.	C	870	ENSP00000005226:R870C	ENSP00000005226:R870C	R	-	1	0	USH1C	17473739	0.298000	0.24417	0.002000	0.10522	0.879000	0.50718	0.246000	0.18160	-1.278000	0.02408	-0.142000	0.14014	CGT	USH1C-006	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389153.1		-	ENST00000005226.7	Missense_Mutation	SNP	11 : 17517163 - 17517163 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1136	221
SRGAP1	57522	broad.mit.edu	37	12	64536230	64536230	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64536230G>A	ENST00000355086.3	+	22	3560	c.3036G>A	c.(3034-3036)ttG>ttA	p.L1012L	SRGAP1_ENST00000357825.3_Silent_p.L989L|SRGAP1_ENST00000543397.1_Silent_p.L949L	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	1012					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TCAGCCCTTTGCACAACGTTG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	102	113			NA	NA	12		NA											NA				64536230		2203	4300	6503	SO:0001819	synonymous_variant			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935	57522	57522		Rho GTPase activating proteins	17382	protein-coding gene	gene with protein product		606523			NA	11672528	Standard		NM_020762	NA	Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.3036G>A	12.37:g.64536230G>A		NA	Q9H8A3|Q9P2P2	37	CCDS8967.1																																																																																			SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400896.1		+	ENST00000355086.3	Silent	SNP	12 : 64536230 - 64536230 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	386	65
ZNF383	163087	broad.mit.edu	37	19	37734379	37734379	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37734379G>T	ENST00000589413.1	+	8	1824	c.1241G>T	c.(1240-1242)aGa>aTa	p.R414I	ZNF383_ENST00000590503.1_Missense_Mutation_p.R414I|ZNF383_ENST00000352998.3_Missense_Mutation_p.R414I			Q8NA42	ZN383_HUMAN	zinc finger protein 383	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGCATCAGAGAATTCATACA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	57	56			NA	NA	19		NA											NA				37734379		2203	4300	6503	SO:0001583	missense			AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283	163087	163087		Zinc fingers, C2H2-type, -	18609	protein-coding gene	gene with protein product					NA		Standard	NM_152604	NM_152604	NA	Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.1241G>T	19.37:g.37734379G>T	ENSP00000464871:p.Arg414Ile	NA	Q6X2C7	37	CCDS12501.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211440	0.58343	.	.	ENSG00000188283	ENST00000352998	T	0.24908	1.83	3.62	2.47	0.30058	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34652	N	0.003790	T	0.36608	0.0973	L	0.45137	1.4	0.40780	D	0.983167	D	0.67145	0.996	D	0.66497	0.944	T	0.21930	-1.0231	10	0.66056	D	0.02	.	10.0584	0.42259	0.0:0.0:0.7991:0.2009	.	414	Q8NA42	ZN383_HUMAN	I	414	ENSP00000340132:R414I	ENSP00000340132:R414I	R	+	2	0	ZNF383	42426219	0.008000	0.16893	1.000000	0.80357	0.902000	0.53008	1.458000	0.35223	2.017000	0.59298	0.563000	0.77884	AGA	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458141.1		+	ENST00000589413.1	Missense_Mutation	SNP	19 : 37734379 - 37734379 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	293	58
CHIT1	1118	broad.mit.edu	37	1	203192354	203192354	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203192354T>G	ENST00000367229.1	-	6	548	c.514A>C	c.(514-516)Acc>Ccc	p.T172P	CHIT1_ENST00000535569.1_Missense_Mutation_p.T163P|CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000255427.3_Missense_Mutation_p.T153P	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	172					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TTCCCTGAGGTCTGGGCTTCC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	112	115			NA	NA	1		NA											NA				203192354		2203	4300	6503	SO:0001583	missense			U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063	1118	1118			1936	protein-coding gene	gene with protein product		600031			NA	9748235, 9492324	Standard	NM_003465	NM_003465	NA	Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.514A>C	1.37:g.203192354T>G	ENSP00000356198:p.Thr172Pro	NA	Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	37	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	T	3.860	-0.030107	0.07543	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.35048	1.33;1.33;1.33	4.62	-9.25	0.00666	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	2.613330	0.01479	N	0.016587	T	0.19127	0.0459	N	0.21508	0.67	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.08066	-1.0740	10	0.29301	T	0.29	-6.2198	4.2602	0.10737	0.3045:0.4553:0.1027:0.1376	.	163;172	G5EA51;Q13231	.;CHIT1_HUMAN	P	172;153;163	ENSP00000356198:T172P;ENSP00000255427:T153P;ENSP00000438078:T163P	ENSP00000255427:T153P	T	-	1	0	CHIT1	201458977	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.396000	0.07278	-2.245000	0.00705	-0.333000	0.08304	ACC	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000100275.2		-	ENST00000367229.1	Missense_Mutation	SNP	1 : 203192354 - 203192354 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	582	169
CD5	921	broad.mit.edu	37	11	60892563	60892563	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60892563T>C	ENST00000347785.3	+	9	1505	c.1339T>C	c.(1339-1341)Tcc>Ccc	p.S447P		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	447					cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CCCCACAGCCTCCCACGTGGA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													202	145	164			NA	NA	11		NA											NA				60892563		2203	4299	6502	SO:0001583	missense			X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448	921	921		CD molecules	1685	protein-coding gene	gene with protein product		153340	CD5 antigen (p56-62)	LEU1	NA	1711157	Standard	NM_014207	NM_014207	NA	Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.1339T>C	11.37:g.60892563T>C	ENSP00000342681:p.Ser447Pro	NA	A0N0P4|A8K9I3	37	CCDS8000.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.744193	0.49151	.	.	ENSG00000110448	ENST00000347785	T	0.31769	1.48	4.99	2.52	0.30459	.	0.254323	0.27901	N	0.017394	T	0.29355	0.0731	L	0.32530	0.975	0.09310	N	1	D	0.67145	0.996	P	0.50440	0.641	T	0.09707	-1.0662	10	0.72032	D	0.01	-21.5538	9.1883	0.37184	0.0:0.0:0.358:0.642	.	447	P06127	CD5_HUMAN	P	447	ENSP00000342681:S447P	ENSP00000342681:S447P	S	+	1	0	CD5	60649139	0.000000	0.05858	0.014000	0.15608	0.694000	0.40290	0.316000	0.19469	0.280000	0.22209	0.379000	0.24179	TCC	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396465.2		+	ENST00000347785.3	Missense_Mutation	SNP	11 : 60892563 - 60892563 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	309	58
PIDD	0	broad.mit.edu	37	11	804251	804251	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:804251G>T	ENST00000347755.5	-	2	279	c.138C>A	c.(136-138)ggC>ggA	p.G46G	PIDD_ENST00000534649.1_5'UTR|PIDD_ENST00000411829.2_Silent_p.G46G	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN		46					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding				NA						GCTGCTGGCAGCCCCCGGGGT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	25	24			NA	NA	11		NA											NA				804251		2200	4294	6494	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000347755.5:c.138C>A	11.37:g.804251G>T		NA	Q59FD1|Q59H10|Q59HC7|Q7Z4P8|Q8NC89|Q8NDL2|Q96C25|Q9NRE6	37	CCDS7716.1																																																																																			PIDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257103.1		-	ENST00000347755.5	Silent	SNP	11 : 804251 - 804251 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	67
PCDH15	65217	broad.mit.edu	37	10	55892654	55892654	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55892654G>T	ENST00000373965.2	-	16	2313	c.1919C>A	c.(1918-1920)gCt>gAt	p.A640D	PCDH15_ENST00000395432.2_Missense_Mutation_p.A596D|PCDH15_ENST00000395430.1_Missense_Mutation_p.A633D|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.A633D|PCDH15_ENST00000414778.1_Missense_Mutation_p.A638D|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.A633D|PCDH15_ENST00000395445.1_Missense_Mutation_p.A640D|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.A633D|PCDH15_ENST00000361849.3_Missense_Mutation_p.A633D|PCDH15_ENST00000373955.1_Missense_Mutation_p.A633D|PCDH15_ENST00000409834.1_Missense_Mutation_p.A244D|PCDH15_ENST00000395433.1_Missense_Mutation_p.A611D|PCDH15_ENST00000373957.3_Missense_Mutation_p.A611D	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	633	Cadherin 6.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TAATAAAACAGCACCAACCCT	0.388		NA								HNSCC(58;0.16)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	90	97			NA	NA	10		NA											NA				55892654		2203	4300	6503	SO:0001583	missense			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275	65217	65217		Cadherins / Cadherin-related	14674	protein-coding gene	gene with protein product	cadherin-related family member 15	605514	deafness, autosomal recessive 23, protocadherin 15	USH1F, DFNB23	NA	11398101, 14570705	Standard	NM_033056	NM_033056	NA	Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.1919C>A	10.37:g.55892654G>T	ENSP00000363076:p.Ala640Asp	NA	A6NL19|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	37		.	.	.	.	.	.	.	.	.	.	G	26.3	4.721110	0.89205	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.67	5.67	0.87782	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.64940	0.2644	L	0.52266	1.64	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.987;1.0;1.0;1.0;1.0;0.999;1.0;0.972;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.985;0.966;1.0;1.0;0.998;0.995;0.992;0.998;0.946;0.996;0.992;0.998	T	0.60229	-0.7304	9	0.41790	T	0.15	.	18.9066	0.92464	0.0:0.0:1.0:0.0	.	611;633;633;638;596;633;633;640;640;633;638;633;611;633	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	D	640;638;633;633;244;640;633;596;633;611;611;633;633;638;633	ENSP00000363076:A640D;ENSP00000410304:A638D;ENSP00000378826:A633D;ENSP00000386693:A244D;ENSP00000378832:A640D;ENSP00000378833:A633D;ENSP00000378820:A596D;ENSP00000354950:A633D;ENSP00000378821:A611D;ENSP00000363068:A611D;ENSP00000322604:A633D;ENSP00000378818:A633D;ENSP00000363066:A633D	ENSP00000322604:A633D	A	-	2	0	PCDH15	55562660	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.438000	0.97539	2.838000	0.97847	0.591000	0.81541	GCT	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000291336.1		-	ENST00000373965.2	Missense_Mutation	SNP	10 : 55892654 - 55892654 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	142	25
RALGPS1	9649	broad.mit.edu	37	9	129831557	129831557	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129831557A>C	ENST00000259351.5	+	8	799	c.532A>C	c.(532-534)Atg>Ctg	p.M178L	RALGPS1_ENST00000373434.1_Missense_Mutation_p.M178L|RALGPS1_ENST00000394022.3_Missense_Mutation_p.M178L|RALGPS1_ENST00000424082.2_Missense_Mutation_p.M178L|RALGPS1_ENST00000373436.1_Missense_Mutation_p.M178L	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	178	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GGACTACCTGATGTCGAAAGA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	101	101			NA	NA	9		NA											NA				129831557		2203	4300	6503	SO:0001583	missense			AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828	9649	9649		Pleckstrin homology (PH) domain containing	16851	protein-coding gene	gene with protein product		614444			NA	9205841, 10747847	Standard	NM_014636	NM_001190728	NA	Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.532A>C	9.37:g.129831557A>C	ENSP00000259351:p.Met178Leu	NA	O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	37	CCDS35143.1	.	.	.	.	.	.	.	.	.	.	A	4.633	0.117738	0.08881	.	.	ENSG00000136828	ENST00000259351;ENST00000424082;ENST00000394022;ENST00000373439;ENST00000319107;ENST00000373436;ENST00000373434	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	5.34	4.2	0.49525	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.246145	0.42682	D	0.000675	T	0.16981	0.0408	N	0.16478	0.41	0.24790	N	0.992763	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.12837	0.008;0.003;0.004;0.005	T	0.16453	-1.0402	10	0.28530	T	0.3	.	7.1063	0.25366	0.6705:0.2538:0.0757:0.0	.	178;178;178;178	E9PBQ5;Q5JS13-3;Q5JS13-2;Q5JS13	.;.;.;RGPS1_HUMAN	L	178;178;178;178;148;178;178	ENSP00000259351:M178L;ENSP00000415630:M178L;ENSP00000377590:M178L;ENSP00000317149:M148L;ENSP00000362535:M178L;ENSP00000362533:M178L	ENSP00000259351:M178L	M	+	1	0	RALGPS1	128871378	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	5.304000	0.65744	0.989000	0.38761	-0.276000	0.10085	ATG	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054133.1		+	ENST00000259351.5	Missense_Mutation	SNP	9 : 129831557 - 129831557 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	257	71
ZNF467	168544	broad.mit.edu	37	7	149462850	149462850	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149462850C>T	ENST00000302017.3	-	5	1154	c.741G>A	c.(739-741)gcG>gcA	p.A247A	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCCGCACTCCGCGCACGGGT	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	22	24			NA	NA	7		NA											NA				149462850		2203	4300	6503	SO:0001819	synonymous_variant			BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444	168544	168544		Zinc fingers, C2H2-type	23154	protein-coding gene	gene with protein product		614040			NA	12426389	Standard	NM_207336	NM_207336	NA	Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.741G>A	7.37:g.149462850C>T		NA		37	CCDS5899.1																																																																																			ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349833.1		-	ENST00000302017.3	Silent	SNP	7 : 149462850 - 149462850 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	119	14
DHX30	22907	broad.mit.edu	37	3	47887317	47887317	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47887317G>A	ENST00000348968.4	+	11	1403	c.983G>A	c.(982-984)cGc>cAc	p.R328H	DHX30_ENST00000457607.1_Missense_Mutation_p.R384H|DHX30_ENST00000445061.1_Missense_Mutation_p.R356H|DHX30_ENST00000446256.2_Missense_Mutation_p.R317H			Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	356						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CCCATCCTCCGCAAGATAGAG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	82	87			NA	NA	3		NA											NA				47887317		2203	4300	6503	SO:0001583	missense			AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153	22907	22907		DEAH-boxes	16716	protein-coding gene	gene with protein product			DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30, DEAH (Asp-Glu-Ala-His) box polypeptide 30	DDX30	NA	10048485, 18022663	Standard	NM_138615	NM_138615	NA	Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000348968.4:c.983G>A	3.37:g.47887317G>A	ENSP00000343442:p.Arg328His	NA	A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	37		.	.	.	.	.	.	.	.	.	.	G	18.34	3.602048	0.66445	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03272	4.0;4.0;4.0;3.99	5.38	4.5	0.54988	.	0.295143	0.36815	N	0.002387	T	0.03136	0.0092	L	0.36672	1.1	0.39684	D	0.970949	P;P	0.47677	0.803;0.899	B;B	0.36030	0.075;0.216	T	0.50906	-0.8772	10	0.49607	T	0.09	.	8.9981	0.36066	0.1622:0.0:0.8378:0.0	.	356;317	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	H	317;356;328;384	ENSP00000392601:R317H;ENSP00000405620:R356H;ENSP00000343442:R328H;ENSP00000394682:R384H	ENSP00000343442:R328H	R	+	2	0	DHX30	47862321	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.898000	0.48672	2.527000	0.85204	0.655000	0.94253	CGC	DHX30-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000346137.1		+	ENST00000348968.4	Missense_Mutation	SNP	3 : 47887317 - 47887317 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	353	68
SDCCAG8	10806	broad.mit.edu	37	1	243468021	243468021	+	Silent	SNP	C	C	T	rs139220760		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:243468021C>T	ENST00000366541.3	+	7	800	c.682C>T	c.(682-684)Cta>Tta	p.L228L	SDCCAG8_ENST00000496361.1_3'UTR|SDCCAG8_ENST00000343783.6_Silent_p.L83L|SDCCAG8_ENST00000391846.1_Silent_p.L228L|SDCCAG8_ENST00000355875.4_Silent_p.L185L	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	228	Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		ATAGGAGAAGCTAAAACTTAC	0.259		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	58	56			NA	NA	1		NA											NA				243468021		2203	4291	6494	SO:0001819	synonymous_variant			AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282	10806	10806			10671	protein-coding gene	gene with protein product		613524			NA	9610721, 20835237	Standard	NM_006642	NM_006642	NA	Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.682C>T	1.37:g.243468021C>T		NA	O60527|Q3ZCR6|Q8N5F2|Q9P0F1	37	CCDS31075.1																																																																																			SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096485.1		+	ENST00000366541.3	Silent	SNP	1 : 243468021 - 243468021 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	241	47
UVSSA	57654	broad.mit.edu	37	4	1346849	1346849	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1346849G>A	ENST00000389851.4	+	5	1029	c.582G>A	c.(580-582)acG>acA	p.T194T	UVSSA_ENST00000511216.1_Silent_p.T194T|UVSSA_ENST00000507531.1_Silent_p.T194T	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	194											NA						CCTGCTTGACGGAGGTAGAGA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	47	47			NA	NA	4		NA											NA				1346849		2200	4290	6490	SO:0001819	synonymous_variant			BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945	57654	57654			29304	protein-coding gene	gene with protein product		614632	KIAA1530	KIAA1530	NA	10819331, 22466610, 22466611, 22466612	Standard	NM_020894	NM_020894	NA	Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.582G>A	4.37:g.1346849G>A		NA	A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	37	CCDS33938.1																																																																																			UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359480.1		+	ENST00000389851.4	Silent	SNP	4 : 1346849 - 1346849 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	357	73
FAM227B	196951	broad.mit.edu	37	15	49860490	49860490	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49860490C>T	ENST00000299338.6	-	9	1002	c.699G>A	c.(697-699)gtG>gtA	p.V233V	FAM227B_ENST00000561064.1_Intron	NM_152647.2	NP_689860.2			family with sequence similarity 227, member B	NA											NA						TGAAAAGTGTCACATAACTTT	0.284		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	67	68			NA	NA	15		NA											NA				49860490		2194	4294	6488	SO:0001819	synonymous_variant				CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262	196951	196951			26543	protein-coding gene	gene with protein product			chromosome 15 open reading frame 33	C15orf33	NA		Standard	NM_152647	NM_152647	NA	Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.699G>A	15.37:g.49860490C>T		NA		37	CCDS32237.1																																																																																			FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417872.1		-	ENST00000299338.6	Silent	SNP	15 : 49860490 - 49860490 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	215	37
TRIP6	7205	broad.mit.edu	37	7	100465482	100465482	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100465482G>T	ENST00000200457.4	+	2	469		c.e2-1			NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	NA					focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCTCAACCCAGCACTCCAGCC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	86	81			NA	NA	7		NA											NA				100465482		2202	4300	6502	SO:0001630	splice_region_variant			L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077	7205	7205			12311	protein-coding gene	gene with protein product		602933			NA	9598321, 7776974	Standard	NM_003302	NM_003302	NA	Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.110-1G>T	7.37:g.100465482G>T		NA	A4D2E7|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	37	CCDS5708.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236992	0.58886	.	.	ENSG00000087077	ENST00000200457	.	.	.	4.55	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6449	0.56729	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRIP6	100303418	0.997000	0.39634	0.994000	0.49952	0.848000	0.48234	2.957000	0.49137	2.372000	0.80975	0.561000	0.74099	.	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347151.2	Intron	+	ENST00000200457.4	Splice_Site	SNP	7 : 100465482 - 100465482 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1147	188
TNNT3	7140	broad.mit.edu	37	11	1958209	1958209	+	Missense_Mutation	SNP	G	G	A	rs1130395		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1958209G>A	ENST00000381558.1	+	14	953	c.674G>A	c.(673-675)aGc>aAc	p.S225N	TNNT3_ENST00000397304.2_Missense_Mutation_p.S214N|TNNT3_ENST00000381589.3_Missense_Mutation_p.S231N|TNNT3_ENST00000278317.6_Missense_Mutation_p.S233N|TNNT3_ENST00000381561.4_Missense_Mutation_p.S236N|TNNT3_ENST00000446240.1_Intron|TNNT3_ENST00000381579.3_Intron|TNNT3_ENST00000397301.1_Missense_Mutation_p.S244N|TNNT3_ENST00000381549.3_Missense_Mutation_p.S225N|TNNT3_ENST00000360603.3_Intron|TNNT3_ENST00000381548.3_Missense_Mutation_p.S235N			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	244					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		ACGCTCAGGAGCCGCATTGAC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	76	88			NA	NA	11		NA											NA				1958209		2194	4297	6491	SO:0001583	missense			M21984	CCDS7727.1, CCDS41594.1, CCDS41595.1, CCDS41596.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130595	ENSG00000130595	7140	7140			11950	protein-coding gene	gene with protein product	troponin-T3, skeletal, fast	600692	troponin T3, skeletal, fast		NA	8172653	Standard	NM_006757	NM_001042782	NA	Approved	AMCD2B, DA2B, FSSV, DKFZp779M2348	uc001lup.4	P45378	OTTHUMG00000012475	ENST00000381558.1:c.674G>A	11.37:g.1958209G>A	ENSP00000370970:p.Ser225Asn	NA	A8MQ76|A8MSW1|B3KPX3|B7WP64|B7ZL26|B7ZVV9|Q12975|Q12976|Q12977|Q12978|Q17RG9|Q6FH29|Q6N056|Q86TH6	37	CCDS41596.1	.	.	.	.	.	.	.	.	.	.	.	0.220	-1.029750	0.02045	.	.	ENSG00000130595	ENST00000278317;ENST00000397309;ENST00000381561;ENST00000381548;ENST00000381549;ENST00000381589;ENST00000381557;ENST00000381563;ENST00000344578;ENST00000381558;ENST00000397301;ENST00000397304	T;T;T;T;T;T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	4.19	3.26	0.37387	.	0.530183	0.22387	N	0.060730	T	0.30603	0.0770	N	0.00453	-1.485	0.24806	N	0.992672	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.46034	-0.9220	10	0.02654	T	1	-2.5967	4.292	0.10883	0.365:0.0:0.635:0.0	.	233;225;231	P45378-2;P45378-7;P45378-6	.;.;.	N	233;245;236;235;225;231;219;236;220;225;244;214	ENSP00000278317:S233N;ENSP00000370973:S236N;ENSP00000370960:S235N;ENSP00000370961:S225N;ENSP00000371001:S231N;ENSP00000370969:S219N;ENSP00000370975:S236N;ENSP00000344870:S220N;ENSP00000370970:S225N;ENSP00000380468:S244N;ENSP00000380471:S214N	ENSP00000278317:S233N	S	+	2	0	TNNT3	1914785	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	1.737000	0.38197	2.063000	0.61619	0.306000	0.20318	AGC	TNNT3-004	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034759.1		+	ENST00000381558.1	Missense_Mutation	SNP	11 : 1958209 - 1958209 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	95	10
DLEC1	9940	broad.mit.edu	37	3	38163660	38163660	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38163660G>A	ENST00000308059.6	+	36	5140	c.5119G>A	c.(5119-5121)Gcc>Acc	p.A1707T	DLEC1_ENST00000346219.3_Intron|DLEC1_ENST00000452631.2_Missense_Mutation_p.A1710T			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1707					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AACCTCCATCGCCTTGCAGGT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	69	66			NA	NA	3		NA											NA				38163660		2059	4190	6249	SO:0001583	missense			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226	9940	9940			2899	protein-coding gene	gene with protein product	cilia and flagella associated protein 81	604050			NA	10213508	Standard	NM_007337	XM_005265630	NA	Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.5119G>A	3.37:g.38163660G>A	ENSP00000308597:p.Ala1707Thr	NA	Q9NSW0|Q9NTG5	37	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	1.647	-0.514910	0.04200	.	.	ENSG00000008226	ENST00000308059;ENST00000452631	T;T	0.04502	3.61;3.84	4.86	-0.709	0.11237	.	.	.	.	.	T	0.01627	0.0052	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.003	B;B;B	0.08055	0.003;0.001;0.003	T	0.49031	-0.8981	9	0.12766	T	0.61	.	5.8206	0.18526	0.2946:0.4557:0.2498:0.0	.	1710;1707;1707	F8W6T4;B7ZW06;Q9Y238	.;.;DLEC1_HUMAN	T	1707;1710	ENSP00000308597:A1707T;ENSP00000410427:A1710T	ENSP00000308597:A1707T	A	+	1	0	DLEC1	38138664	0.000000	0.05858	0.000000	0.03702	0.155000	0.21991	0.283000	0.18846	-0.391000	0.07763	-0.367000	0.07326	GCC	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253745.3		+	ENST00000308059.6	Missense_Mutation	SNP	3 : 38163660 - 38163660 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	306	48
ALPI	248	broad.mit.edu	37	2	233321938	233321938	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233321938G>A	ENST00000295463.3	+	5	631	c.554G>A	c.(553-555)cGc>cAc	p.R185H		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	185					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ACAGTGAACCGCAACTGGTAC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	85	85			NA	NA	2		NA											NA				233321938		2203	4300	6503	SO:0001583	missense			M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	248	248	3.1.3.1		437	protein-coding gene	gene with protein product		171740			NA	3468508, 3469665	Standard	NM_001631	NM_001631	NA	Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.554G>A	2.37:g.233321938G>A	ENSP00000295463:p.Arg185His	NA	B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	37	CCDS2492.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013703	0.93404	.	.	ENSG00000163295	ENST00000295463	D	0.98876	-5.2	5.5	5.5	0.81552	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99658	0.9873	H	0.99884	4.89	0.58432	D	0.999991	D	0.89917	1.0	D	0.80764	0.994	D	0.97130	0.9817	10	0.87932	D	0	.	18.7561	0.91833	0.0:0.0:1.0:0.0	.	185	P09923	PPBI_HUMAN	H	185	ENSP00000295463:R185H	ENSP00000295463:R185H	R	+	2	0	ALPI	233030182	1.000000	0.71417	0.987000	0.45799	0.744000	0.42396	7.552000	0.82192	2.757000	0.94681	0.561000	0.74099	CGC	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257035.2		+	ENST00000295463.3	Missense_Mutation	SNP	2 : 233321938 - 233321938 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	645	103
OR10H3	26532	broad.mit.edu	37	19	15852477	15852477	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15852477C>T	ENST00000305892.1	+	1	275	c.275C>T	c.(274-276)tCc>tTc	p.S92F		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						ACCCATCGTTCCATCACCTTT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													547	456	487			NA	NA	19		NA											NA				15852477		2203	4300	6503	SO:0001583	missense				CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936	26532	26532		GPCR / Class A : Olfactory receptors	8174	protein-coding gene	gene with protein product					NA		Standard		NM_013938	NA	Approved		uc010xoq.2	O60404		ENST00000305892.1:c.275C>T	19.37:g.15852477C>T	ENSP00000307130:p.Ser92Phe	NA	Q2HIZ3|Q6IFQ0	37	CCDS12334.1	.	.	.	.	.	.	.	.	.	.	.	7.105	0.574859	0.13623	.	.	ENSG00000171936	ENST00000305892	T	0.00605	6.27	2.35	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	0.608641	0.13515	U	0.382145	T	0.01320	0.0043	M	0.69358	2.11	0.09310	N	1	P	0.49185	0.92	P	0.52909	0.713	T	0.48186	-0.9057	10	0.87932	D	0	.	6.3262	0.21244	0.2945:0.7055:0.0:0.0	.	92	O60404	O10H3_HUMAN	F	92	ENSP00000307130:S92F	ENSP00000307130:S92F	S	+	2	0	OR10H3	15713477	0.092000	0.21681	0.067000	0.19924	0.087000	0.18053	0.648000	0.24828	1.320000	0.45209	0.185000	0.17295	TCC	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460918.1		+	ENST00000305892.1	Missense_Mutation	SNP	19 : 15852477 - 15852477 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2156	378
SETBP1	26040	broad.mit.edu	37	18	42643106	42643106	+	Missense_Mutation	SNP	C	C	T	rs145996171	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:42643106C>T	ENST00000282030.5	+	6	4530	c.4234C>T	c.(4234-4236)Cgg>Tgg	p.R1412W		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1412						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GTGCGAAGTGCGGAAGATGTG	0.532		NA							Schinzel-Giedion syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	54	55			NA	NA	18		NA											NA				42643106		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217	26040	26040			15573	protein-coding gene	gene with protein product		611060			NA	11231286	Standard	NM_001130110	NM_015559	NA	Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.4234C>T	18.37:g.42643106C>T	ENSP00000282030:p.Arg1412Trp	NA	A6H8W5|Q6P6C3|Q9UEF3	37	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153410	0.78114	.	.	ENSG00000152217	ENST00000282030	D	0.83673	-1.75	5.27	4.38	0.52667	.	0.000000	0.64402	D	0.000001	D	0.86468	0.5940	L	0.32530	0.975	0.39997	D	0.975114	D	0.89917	1.0	D	0.91635	0.999	D	0.88512	0.3090	10	0.87932	D	0	.	15.0866	0.72158	0.1431:0.8569:0.0:0.0	.	1412	Q9Y6X0	SETBP_HUMAN	W	1412	ENSP00000282030:R1412W	ENSP00000282030:R1412W	R	+	1	2	SETBP1	40897104	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.483000	0.53194	1.305000	0.44909	0.563000	0.77884	CGG	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255854.4		+	ENST00000282030.5	Missense_Mutation	SNP	18 : 42643106 - 42643106 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	271	46
FOXP1	27086	broad.mit.edu	37	3	71008431	71008431	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:71008431G>A	ENST00000493089.1	-	21	2626	c.1998C>T	c.(1996-1998)taC>taT	p.Y666Y	FOXP1_ENST00000498215.1_Silent_p.Y667Y|FOXP1_ENST00000484350.1_Silent_p.Y591Y|FOXP1_ENST00000468577.1_Silent_p.Y603Y|FOXP1_ENST00000475937.1_Silent_p.Y667Y|FOXP1_ENST00000491238.1_Silent_p.Y669Y|FOXP1_ENST00000318789.4_Silent_p.Y667Y	NM_001244808.1	NP_001231737.1	Q9H334	FOXP1_HUMAN	forkhead box P1	667					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GTTCATCTTCGTAATCTCTGT	0.478		NA	T	PAX5	ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		3	3p14.1	27086	forkhead box P1		L	0													203	181	188			NA	NA	3		NA											NA				71008431		2203	4300	6503	SO:0001819	synonymous_variant			AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861	27086	27086		Forkhead boxes	3823	protein-coding gene	gene with protein product	fork head-related protein like B, glutamine-rich factor 1, PAX5/FOXP1 fusion protein	605515			NA	8265594, 11751404	Standard	NM_032682	NM_032682	NA	Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000493089.1:c.1998C>T	3.37:g.71008431G>A		NA	A3QVP8|Q9H332|Q9H333|Q9P0R1	37	CCDS58839.1																																																																																			FOXP1-002	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352251.1		-	ENST00000493089.1	Silent	SNP	3 : 71008431 - 71008431 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	759	123
ZNF835	90485	broad.mit.edu	37	19	57175068	57175068	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57175068G>A	ENST00000537055.2	-	2	1730	c.1499C>T	c.(1498-1500)tCg>tTg	p.S500L		NM_001005850.2	NP_001005850.2			zinc finger protein 835	NA										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AAGGCGTCCCGAACTGTCTGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	131	127			NA	NA	19		NA											NA				57175068		2200	4299	6499	SO:0001583	missense			AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903	90485	90485		Zinc fingers, C2H2-type	34332	protein-coding gene	gene with protein product					NA		Standard	NM_001005850	NM_001005850	NA	Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.1499C>T	19.37:g.57175068G>A	ENSP00000444747:p.Ser500Leu	NA		37	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	G	8.593	0.885100	0.17540	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.07114	3.22	2.15	-4.29	0.03721	Zinc finger, C2H2 (1);	.	.	.	.	T	0.04407	0.0121	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39187	-0.9626	9	0.87932	D	0	.	11.1417	0.48406	0.0:0.6885:0.1825:0.129	.	522	Q9Y2P0	ZN835_HUMAN	L	522;500	ENSP00000444747:S500L	ENSP00000341756:S522L	S	-	2	0	ZNF835	61866880	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.361000	0.20267	-1.571000	0.01663	-0.311000	0.09066	TCG	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459800.1		-	ENST00000537055.2	Missense_Mutation	SNP	19 : 57175068 - 57175068 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1245	231
IPO8	10526	broad.mit.edu	37	12	30823918	30823918	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:30823918T>G	ENST00000544829.1	-	5	731	c.407A>C	c.(406-408)aAg>aCg	p.K136T	IPO8_ENST00000256079.4_Missense_Mutation_p.K341T	NM_001190995.1	NP_001177924.1	O15397	IPO8_HUMAN	importin 8	341					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CTTCATCTGCTTCCAGGTTAT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	147	147			NA	NA	12		NA											NA				30823918		2203	4300	6503	SO:0001583	missense			U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704	10526	10526		Importins	9853	protein-coding gene	gene with protein product		605600	RAN binding protein 8	RANBP8	NA	9214382	Standard	NM_006390	NM_006390	NA	Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000544829.1:c.407A>C	12.37:g.30823918T>G	ENSP00000444520:p.Lys136Thr	NA		37	CCDS53773.1	.	.	.	.	.	.	.	.	.	.	T	18.57	3.652669	0.67472	.	.	ENSG00000133704	ENST00000256079;ENST00000544829;ENST00000542464	T;T;T	0.69175	-0.38;-0.38;-0.38	4.03	4.03	0.46877	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.048446	0.85682	D	0.000000	T	0.81380	0.4810	M	0.84948	2.725	0.51767	D	0.999938	D;D	0.89917	1.0;0.996	D;D	0.77557	0.99;0.984	T	0.81382	-0.0958	10	0.30078	T	0.28	-22.7694	13.3903	0.60821	0.0:0.0:0.0:1.0	.	136;341	B7Z7M3;O15397	.;IPO8_HUMAN	T	341;136;155	ENSP00000256079:K341T;ENSP00000444520:K136T;ENSP00000439556:K155T	ENSP00000256079:K341T	K	-	2	0	IPO8	30715185	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.751000	0.62169	1.811000	0.52892	0.477000	0.44152	AAG	IPO8-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402699.1		-	ENST00000544829.1	Missense_Mutation	SNP	12 : 30823918 - 30823918 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	696	134
PIH1D1	55011	broad.mit.edu	37	19	49952887	49952887	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49952887G>A	ENST00000262265.5	-	3	417	c.182C>T	c.(181-183)tCg>tTg	p.S61L	PIH1D1_ENST00000596049.1_Missense_Mutation_p.S61L	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	61					box C/D snoRNP assembly	pre-snoRNP complex				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		CTTCCCTTCCGAGGAGTTGGT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	109	114			NA	NA	19		NA											NA				49952887		2203	4300	6503	SO:0001583	missense			AK000650	CCDS12765.1	19q13.33	2012-07-18	2007-01-31	2007-01-31	ENSG00000104872	ENSG00000104872	55011	55011			26075	protein-coding gene	gene with protein product		611480		NOP17	NA	12477932	Standard	NM_017916	NM_017916	NA	Approved	FLJ20643	uc002pns.2	Q9NWS0		ENST00000262265.5:c.182C>T	19.37:g.49952887G>A	ENSP00000262265:p.Ser61Leu	NA	Q9BVL0	37	CCDS12765.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.418996	0.25552	.	.	ENSG00000104872	ENST00000262265	T	0.16743	2.32	5.19	4.16	0.48862	.	0.562942	0.18438	N	0.141225	T	0.15565	0.0375	L	0.40543	1.245	0.09310	N	1	D;B	0.53462	0.96;0.044	B;B	0.43916	0.436;0.017	T	0.08680	-1.0710	10	0.32370	T	0.25	-2.1746	9.7784	0.40634	0.0949:0.0:0.9051:0.0	.	61;61	B4DGN7;Q9NWS0	.;PIHD1_HUMAN	L	61	ENSP00000262265:S61L	ENSP00000262265:S61L	S	-	2	0	PIH1D1	54644699	0.024000	0.19004	0.002000	0.10522	0.302000	0.27658	2.235000	0.43044	1.199000	0.43173	0.561000	0.74099	TCG	PIH1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465389.2		-	ENST00000262265.5	Missense_Mutation	SNP	19 : 49952887 - 49952887 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	240	43
ABLIM2	84448	broad.mit.edu	37	4	8089918	8089918	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8089918C>T	ENST00000361737.5	-	4	553	c.432G>A	c.(430-432)gcG>gcA	p.A144A	ABLIM2_ENST00000546334.1_Silent_p.A144A|ABLIM2_ENST00000428004.2_Silent_p.A144A|ABLIM2_ENST00000341937.5_Silent_p.A144A|ABLIM2_ENST00000407564.3_Silent_p.A144A|ABLIM2_ENST00000545242.1_Silent_p.A144A|ABLIM2_ENST00000296372.8_Silent_p.A144A|ABLIM2_ENST00000361581.5_Silent_p.A144A|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000505872.1_Silent_p.A144A|ABLIM2_ENST00000447017.2_Silent_p.A144A	NM_001130087.1	NP_001123559.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	144					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GGGACAGGTGCGCGCTGCTGC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,,,,,	9,4097		0,9,2044	32	38	36		432,432,432,432,432,432,432	-5.3	0	4		36	0,8348		0,0,4174	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ABLIM2	NM_001130083.1,NM_001130084.1,NM_001130085.1,NM_001130086.1,NM_001130087.1,NM_001130088.1,NM_032432.4	,,,,,,	0,9,6218	TT,TC,CC	NA	0.0,0.2192,0.0723	,,,,,,	144/646,144/612,144/573,144/560,144/532,144/471,144/522	8089918	9,12445	2053	4174	6227	SO:0001819	synonymous_variant			AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995	84448	84448			19195	protein-coding gene	gene with protein product		612544	actin binding LIM protein 2		NA		Standard	NM_001130083	NM_001130083	NA	Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000361737.5:c.432G>A	4.37:g.8089918C>T		NA	Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	37	CCDS47015.1																																																																																			ABLIM2-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363009.1		-	ENST00000361737.5	Silent	SNP	4 : 8089918 - 8089918 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	174	25
SLC6A17	388662	broad.mit.edu	37	1	110738297	110738297	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110738297G>A	ENST00000331565.4	+	10	2067	c.1582G>A	c.(1582-1584)Gcc>Acc	p.A528T		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	528					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TGACTACTCGGCCACCCTGCC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	87	93			NA	NA	1		NA											NA				110738297		2203	4300	6503	SO:0001583	missense				CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106	388662	388662		Solute carriers	31399	protein-coding gene	gene with protein product		610299	solute carrier family 6 (neurotransmitter transporter), member 17, solute carrier family 6, member 17		NA		Standard	XM_371280	NM_001010898	NA	Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.1582G>A	1.37:g.110738297G>A	ENSP00000330199:p.Ala528Thr	NA	A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	37	CCDS30799.1	.	.	.	.	.	.	.	.	.	.	G	36	5.909396	0.97093	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.77877	-1.13	5.65	5.65	0.86999	.	0.102844	0.64402	D	0.000002	D	0.87366	0.6159	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.88080	0.2806	10	0.87932	D	0	.	19.6998	0.96048	0.0:0.0:1.0:0.0	.	528	Q9H1V8	S6A17_HUMAN	T	528	ENSP00000330199:A528T	ENSP00000330199:A528T	A	+	1	0	SLC6A17	110539820	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.734000	0.98822	2.657000	0.90304	0.655000	0.94253	GCC	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032550.2		+	ENST00000331565.4	Missense_Mutation	SNP	1 : 110738297 - 110738297 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	15
CDH20	28316	broad.mit.edu	37	18	59217362	59217362	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:59217362C>T	ENST00000262717.4	+	11	2198	c.1800C>T	c.(1798-1800)gaC>gaT	p.D600D	CDH20_ENST00000538374.1_Silent_p.D600D|CDH20_ENST00000536675.2_Silent_p.D600D			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	600	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GTGATGACGACGGCCACGTCA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	52	59			NA	NA	18		NA											NA				59217362		2203	4300	6503	SO:0001819	synonymous_variant			AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542	28316	28316		Cadherins / Major cadherins	1760	protein-coding gene	gene with protein product		605807			NA	10995570	Standard	NM_031891	NM_031891	NA	Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.1800C>T	18.37:g.59217362C>T		NA	Q495S3	37	CCDS11977.1																																																																																			CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256141.2		+	ENST00000262717.4	Silent	SNP	18 : 59217362 - 59217362 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	57
CHL1	10752	broad.mit.edu	37	3	433368	433368	+	Silent	SNP	G	G	A	rs140090602		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:433368G>A	ENST00000256509.2	+	23	3444	c.2802G>A	c.(2800-2802)caG>caA	p.Q934Q	CHL1_ENST00000397491.2_Silent_p.Q918Q	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	918	Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TACCTGAACAGCCAACTTTTC	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4405	2.1+/-5.4	0,1,2202	85	86	85		2802	-0.6	1	3	dbSNP_134	85	0,8598		0,0,4299	no	coding-synonymous	CHL1	NM_006614.2		0,1,6501	AA,AG,GG	NA	0.0,0.0227,0.0077		934/1225	433368	1,13003	2203	4299	6502	SO:0001819	synonymous_variant			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121	10752	10752		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	1939	protein-coding gene	gene with protein product	neural cell adhesion molecule, close homolog of L1	607416	cell adhesion molecule with homology to L1CAM (close homologue of L1), cell adhesion molecule with homology to L1CAM (close homolog of L1)		NA	9799093	Standard	NM_006614	NM_006614	NA	Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.2802G>A	3.37:g.433368G>A		NA	B7ZL03|Q2M3G2|Q59FY0	37	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	7.946	0.743787	0.15642	2.27E-4	0.0	ENSG00000134121	ENST00000445697	.	.	.	5.62	-0.555	0.11807	.	.	.	.	.	T	0.57961	0.2089	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54323	-0.8311	4	.	.	.	.	10.9911	0.47549	0.5608:0.0:0.4392:0.0	.	.	.	.	N	121	.	.	S	+	2	0	CHL1	408368	0.001000	0.12720	0.997000	0.53966	0.992000	0.81027	-1.298000	0.02756	0.033000	0.15463	0.650000	0.86243	AGC	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207155.2		+	ENST00000256509.2	Silent	SNP	3 : 433368 - 433368 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	470	69
PPARGC1B	133522	broad.mit.edu	37	5	149210396	149210396	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149210396G>A	ENST00000309241.5	+	4	564	c.532G>A	c.(532-534)Gcc>Acc	p.A178T	PPARGC1B_ENST00000360453.4_Intron|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.A178T|PPARGC1B_ENST00000403750.1_Intron	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	178					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGAAGGGACCGCCTGGCGCCA	0.577		NA											G	1	5e-04	NA	NA	2184	0.0017	0.9988	,	,	NA	7e-04	NA	NA	NA	0.0011	0.5213	LOWCOV,EXOME	NA	NA	0.0019	SNP								NA				0													99	104	102			NA	NA	5		NA											NA				149210396		2203	4300	6503	SO:0001583	missense			AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846	133522	133522		RNA binding motif (RRM) containing	30022	protein-coding gene	gene with protein product		608886	peroxisome proliferative activated receptor, gamma, coactivator 1, beta		NA	11793024, 11854298	Standard	NM_133263	NM_133263	NA	Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.532G>A	5.37:g.149210396G>A	ENSP00000312649:p.Ala178Thr	NA	A2RUM8|A2RUN0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	37	CCDS4298.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.74	1.728445	0.30593	.	.	ENSG00000155846	ENST00000394320;ENST00000309241	T;T	0.08896	3.04;3.05	5.29	-9.07	0.00724	.	0.903404	0.09510	N	0.792383	T	0.02533	0.0077	N	0.20685	0.6	0.36951	D	0.892856	B;B;B;B	0.16396	0.003;0.007;0.002;0.017	B;B;B;B	0.09377	0.002;0.004;0.001;0.004	T	0.45833	-0.9234	10	0.02654	T	1	-6.896	1.4094	0.02287	0.3069:0.083:0.2312:0.3789	.	157;157;178;178	Q86YN6-2;Q86YN6-4;Q86YN6;Q86YN6-3	.;.;PRGC2_HUMAN;.	T	178	ENSP00000377855:A178T;ENSP00000312649:A178T	ENSP00000312649:A178T	A	+	1	0	PPARGC1B	149190589	0.000000	0.05858	0.000000	0.03702	0.849000	0.48306	-0.281000	0.08456	-1.252000	0.02491	0.561000	0.74099	GCC	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252334.1		+	ENST00000309241.5	Missense_Mutation	SNP	5 : 149210396 - 149210396 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	797	143
CLSPN	63967	broad.mit.edu	37	1	36208797	36208797	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36208797C>T	ENST00000251195.5	-	18	3184	c.3088G>A	c.(3088-3090)Gaa>Aaa	p.E1030K	RP11-435D7.3_ENST00000373226.2_RNA|CLSPN_ENST00000318121.3_Missense_Mutation_p.E1030K|CLSPN_ENST00000373220.3_Missense_Mutation_p.E966K|CLSPN_ENST00000520551.1_Missense_Mutation_p.E977K			Q9HAW4	CLSPN_HUMAN	claspin	1030					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCATCATCTTCATGGTCTTCC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													197	171	180			NA	NA	1		NA											NA				36208797		2203	4300	6503	SO:0001583	missense			AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853	63967	63967			19715	protein-coding gene	gene with protein product		605434	claspin homolog (Xenopus laevis)		NA	11090622, 12766152	Standard	NM_022111	NM_022111	NA	Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000251195.5:c.3088G>A	1.37:g.36208797C>T	ENSP00000251195:p.Glu1030Lys	NA	A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	37		.	.	.	.	.	.	.	.	.	.	C	17.67	3.446160	0.63178	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551	T;T;T;T	0.26373	1.74;1.74;1.77;1.78	5.17	5.17	0.71159	.	0.326183	0.31531	N	0.007486	T	0.34193	0.0889	L	0.53249	1.67	0.34227	D	0.6761	P;D	0.56287	0.949;0.975	B;P	0.48815	0.31;0.591	T	0.48328	-0.9045	10	0.48119	T	0.1	-7.7497	15.7587	0.78058	0.0:1.0:0.0:0.0	.	966;1030	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	K	1030;1030;966;977	ENSP00000251195:E1030K;ENSP00000312995:E1030K;ENSP00000362317:E966K;ENSP00000428848:E977K	ENSP00000251195:E1030K	E	-	1	0	CLSPN	35981384	0.159000	0.22864	0.998000	0.56505	0.373000	0.29922	1.465000	0.35299	2.579000	0.87056	0.655000	0.94253	GAA	CLSPN-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000012014.4		-	ENST00000251195.5	Missense_Mutation	SNP	1 : 36208797 - 36208797 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	820	93
KLHDC4	54758	broad.mit.edu	37	16	87764215	87764215	+	Missense_Mutation	SNP	C	C	T	rs145431417	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87764215C>T	ENST00000270583.5	-	6	600	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	KLHDC4_ENST00000353170.5_Missense_Mutation_p.R124Q|KLHDC4_ENST00000347925.5_Intron|KLHDC4_ENST00000566349.1_5'UTR	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	181										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		GGCCACCATCCGATGTCCACT	0.433		NA											C	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	4e-04	0.95	EXOME	NA	NA	2e-04	SNP								NA				0								C	GLN/ARG,,GLN/ARG	6,4390	11.4+/-27.6	0,6,2192	136	120	126		371,,542	4.9	1	16	dbSNP_134	126	0,8600		0,0,4300	yes	missense,intron,missense	KLHDC4	NM_001184854.1,NM_001184856.1,NM_017566.3	43,,43	0,6,6492	TT,TC,CC	NA	0.0,0.1365,0.0462	probably-damaging,,probably-damaging	124/464,,181/521	87764215	6,12990	2198	4300	6498	SO:0001583	missense			AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731	54758	54758			25272	protein-coding gene	gene with protein product					NA		Standard	NM_017566	NM_001184854	NA	Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.542G>A	16.37:g.87764215C>T	ENSP00000270583:p.Arg181Gln	NA	D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	37	CCDS10963.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	36	5.604795	0.96626	0.001365	0.0	ENSG00000104731	ENST00000270583;ENST00000353170	T;T	0.62232	0.04;0.04	4.92	4.92	0.64577	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.77778	0.4181	M	0.71296	2.17	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.953	T	0.79926	-0.1597	10	0.59425	D	0.04	-1.9439	15.2697	0.73689	0.0:1.0:0.0:0.0	.	124;181	Q8TBB5-2;Q8TBB5	.;KLDC4_HUMAN	Q	181;124	ENSP00000270583:R181Q;ENSP00000262530:R124Q	ENSP00000270583:R181Q	R	-	2	0	KLHDC4	86321716	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.499000	0.73683	2.272000	0.75746	0.655000	0.94253	CGG	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269109.2		-	ENST00000270583.5	Missense_Mutation	SNP	16 : 87764215 - 87764215 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	699	43
SLC39A7	7922	broad.mit.edu	37	6	33170375	33170375	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33170375G>T	ENST00000374677.3	+	5	1211	c.838G>T	c.(838-840)Gaa>Taa	p.E280*	SLC39A7_ENST00000374675.3_Nonsense_Mutation_p.E280*|SLC39A7_ENST00000463972.1_3'UTR	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	280			E -> G (in dbSNP:rs1048778).			endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						AGAGGAAGAAGAAAAGGAAAC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	72	71			NA	NA	6		NA											NA				33170375		1216	2516	3732	SO:0001587	stop_gained			AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473	7922	7922		Solute carriers	4927	protein-coding gene	gene with protein product		601416	HLA class II region expressed gene KE4	HKE4	NA	8812499, 1855816, 19246244, 15705588	Standard	NM_006979	NM_006979	NA	Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.838G>T	6.37:g.33170375G>T	ENSP00000363809:p.Glu280*	NA	B0UXF6|Q5STP8|Q9UIQ0	37	CCDS43453.1	.	.	.	.	.	.	.	.	.	.	G	34	5.313466	0.95655	.	.	ENSG00000112473	ENST00000444757;ENST00000374675;ENST00000446283;ENST00000445037;ENST00000374677	.	.	.	4.26	4.26	0.50523	.	0.350125	0.26383	N	0.024686	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	3.3686	12.0355	0.53423	0.0:0.0:1.0:0.0	.	.	.	.	X	190;280;261;185;280	.	ENSP00000363807:E280X	E	+	1	0	SLC39A7	33278353	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	5.859000	0.69539	2.209000	0.71365	0.549000	0.68633	GAA	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076499.2		+	ENST00000374677.3	Nonsense_Mutation	SNP	6 : 33170375 - 33170375 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	318	68
ACOT7	11332	broad.mit.edu	37	1	6324691	6324691	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6324691G>A	ENST00000361521.4	-	9	2070	c.1079C>T	c.(1078-1080)gCg>gTg	p.A360V	ACOT7_ENST00000377845.3_Missense_Mutation_p.A340V|ACOT7_ENST00000377842.3_Missense_Mutation_p.A319V|ACOT7_ENST00000377855.2_Missense_Mutation_p.A370V|ACOT7_ENST00000608083.1_Missense_Mutation_p.A328V|ACOT7_ENST00000545482.1_Missense_Mutation_p.A255V	NM_007274.3	NP_009205.3	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	370						mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity			kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		CTGTCGCTTCGCCTTCATCTG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(74;673 1226 4974 11850 13190)							NA				0													200	140	160			NA	NA	1		NA											NA				6324691		2201	4299	6500	SO:0001583	missense			AB074417	CCDS65.1, CCDS66.1, CCDS67.1, CCDS30573.1	1p36	2008-08-14			ENSG00000097021	ENSG00000097021	11332	11332		Acyl CoA thioesterases	24157	protein-coding gene	gene with protein product	brain acyl CoA hydrolase	602587			NA	10578051, 16103133, 16940157	Standard	NM_007274	XM_005263427	NA	Approved	BACH, ACH1, ACT, CTE-II, LACH1, MGC1126, hBACH	uc001amt.3	O00154	OTTHUMG00000001295	ENST00000361521.4:c.1079C>T	1.37:g.6324691G>A	ENSP00000354615:p.Ala360Val	NA	A8K0K7|A8K232|A8K6B8|A8K837|O43703|Q53Y78|Q5JYL2|Q5JYL3|Q5JYL4|Q5JYL5|Q5JYL6|Q5TGR4|Q9UJM9|Q9Y539|Q9Y540	37	CCDS30573.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800147	0.90538	.	.	ENSG00000097021	ENST00000377855;ENST00000377845;ENST00000377842;ENST00000361521;ENST00000545482	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.57460	0.2055	M	0.66378	2.025	0.80722	D	1	D;D;D;D	0.76494	0.995;0.999;0.999;0.991	P;P;P;P	0.58820	0.551;0.458;0.846;0.562	T	0.53528	-0.8426	10	0.33940	T	0.23	.	15.1435	0.72630	0.0:0.0:1.0:0.0	.	360;370;340;319	B3KQ12;O00154;O00154-5;O00154-6	.;BACH_HUMAN;.;.	V	370;340;319;360;255	ENSP00000367086:A370V;ENSP00000367076:A340V;ENSP00000367073:A319V;ENSP00000354615:A360V;ENSP00000439218:A255V	ENSP00000354615:A360V	A	-	2	0	ACOT7	6247278	1.000000	0.71417	0.979000	0.43373	0.992000	0.81027	5.861000	0.69553	2.647000	0.89833	0.563000	0.77884	GCG	ACOT7-006	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000003778.2		-	ENST00000361521.4	Missense_Mutation	SNP	1 : 6324691 - 6324691 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	171	22
OR5M10	390167	broad.mit.edu	37	11	56344805	56344805	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56344805A>G	ENST00000526812.2	-	1	458	c.393T>C	c.(391-393)caT>caC	p.H131H		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TGGAACTGTAATGTAAAGGGC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								A		1,4005		0,1,2002	180	167	171		393	-4.8	0	11		171	0,8374		0,0,4187	no	coding-synonymous	OR5M10	NM_001004741.1		0,1,6189	GG,GA,AA	NA	0.0,0.025,0.0081		131/316	56344805	1,12379	2003	4187	6190	SO:0001819	synonymous_variant			BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834	390167	390167		GPCR / Class A : Olfactory receptors	15290	protein-coding gene	gene with protein product					NA		Standard	NM_001004741	NM_001004741	NA	Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.393T>C	11.37:g.56344805A>G		NA	B9EIL9	37	CCDS53630.1																																																																																			OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391609.1		-	ENST00000526812.2	Silent	SNP	11 : 56344805 - 56344805 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	485	97
STX7	8417	broad.mit.edu	37	6	132792628	132792628	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132792628G>A	ENST00000367941.2	-	5	474	c.361C>T	c.(361-363)Cga>Tga	p.R121*	STX7_ENST00000448348.3_5'UTR|STX7_ENST00000367937.4_Nonsense_Mutation_p.R121*	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7	121					intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		GCTCTTACTCGAGCAACAAAC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	136	138			NA	NA	6		NA											NA				132792628		2203	4300	6503	SO:0001587	stop_gained			U77942	CCDS5153.1	6q23.1	2008-02-05			ENSG00000079950	ENSG00000079950	8417	8417			11442	protein-coding gene	gene with protein product		603217			NA	9358037	Standard		NM_003569	NA	Approved		uc003qdg.2	O15400	OTTHUMG00000015577	ENST00000367941.2:c.361C>T	6.37:g.132792628G>A	ENSP00000356918:p.Arg121*	NA	E1P579|Q5SZW2|Q96ES9	37	CCDS5153.1	.	.	.	.	.	.	.	.	.	.	G	36	5.875587	0.97055	.	.	ENSG00000079950	ENST00000367941;ENST00000448348;ENST00000309255;ENST00000367937	.	.	.	5.93	4.0	0.46444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5279	7.0116	0.24865	0.0891:0.0:0.5468:0.3641	.	.	.	.	X	121;121;76;121	.	ENSP00000309600:R76X	R	-	1	2	STX7	132834321	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.256000	0.51492	1.516000	0.48900	0.655000	0.94253	CGA	STX7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042252.2		-	ENST00000367941.2	Nonsense_Mutation	SNP	6 : 132792628 - 132792628 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	546	15
ARHGEF12	23365	broad.mit.edu	37	11	120343820	120343820	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120343820A>C	ENST00000397843.2	+	31	3183	c.3017A>C	c.(3016-3018)aAt>aCt	p.N1006T	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.N987T|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.N903T	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1006					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GAGTACCCAAATGTTGAAGAG	0.408		NA	T	MLL	AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0													172	164	166			NA	NA	11		NA											NA				120343820		1885	4117	6002	SO:0001583	missense			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914	23365	23365		Rho guanine nucleotide exchange factors	14193	protein-coding gene	gene with protein product		604763			NA	10681437, 9205841	Standard	NM_015313	NM_001198665	NA	Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3017A>C	11.37:g.120343820A>C	ENSP00000380942:p.Asn1006Thr	NA	O15086|Q6P526	37	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	A	8.450	0.852865	0.17106	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.42900	0.96;0.96;0.96	5.68	5.68	0.88126	Pleckstrin homology-type (1);	0.000000	0.52532	D	0.000067	T	0.27559	0.0677	N	0.22421	0.69	0.32375	N	0.555307	B;B;B	0.20368	0.001;0.044;0.026	B;B;B	0.21546	0.004;0.035;0.016	T	0.31971	-0.9924	10	0.19590	T	0.45	-22.8944	9.5185	0.39120	0.7351:0.0:0.0:0.2649	.	903;987;1006	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	T	1006;987;903	ENSP00000380942:N1006T;ENSP00000349056:N987T;ENSP00000432984:N903T	ENSP00000349056:N987T	N	+	2	0	ARHGEF12	119849030	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.882000	0.56160	2.179000	0.69175	0.477000	0.44152	AAT	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388052.1		+	ENST00000397843.2	Missense_Mutation	SNP	11 : 120343820 - 120343820 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	950	77
FAT4	79633	broad.mit.edu	37	4	126412738	126412738	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126412738C>A	ENST00000394329.3	+	17	14774	c.14761C>A	c.(14761-14763)Cta>Ata	p.L4921I	FAT4_ENST00000335110.5_Missense_Mutation_p.L3162I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4921					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCCCATGAAGCTAGGGCAGCA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	57	58			NA	NA	4		NA											NA				126412738		2203	4300	6503	SO:0001583	missense			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159	79633	79633		Cadherins / Cadherin-related	23109	protein-coding gene	gene with protein product	cadherin-related family member 11	612411	FAT tumor suppressor homolog 4 (Drosophila)		NA	15003449	Standard	NM_024582	NM_024582	NA	Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.14761C>A	4.37:g.126412738C>A	ENSP00000377862:p.Leu4921Ile	NA	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375834	0.24857	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.75704	-0.79;-0.96	4.67	4.67	0.58626	.	0.000000	0.29508	U	0.011943	T	0.80660	0.4665	L	0.51422	1.61	0.53688	D	0.999976	D;D;D	0.64830	0.994;0.99;0.994	P;P;P	0.60789	0.879;0.76;0.879	T	0.79398	-0.1820	10	0.36615	T	0.2	.	16.7563	0.85499	0.0:1.0:0.0:0.0	.	3162;4921;4920	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	I	4921;3162	ENSP00000377862:L4921I;ENSP00000335169:L3162I	ENSP00000335169:L3162I	L	+	1	2	FAT4	126632188	1.000000	0.71417	0.975000	0.42487	0.123000	0.20343	4.446000	0.60014	2.425000	0.82216	0.491000	0.48974	CTA	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256765.2		+	ENST00000394329.3	Missense_Mutation	SNP	4 : 126412738 - 126412738 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	314	63
SORT1	6272	broad.mit.edu	37	1	109859483	109859483	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109859483G>A	ENST00000256637.6	-	17	2297	c.2239C>T	c.(2239-2241)Ccg>Tcg	p.P747S	SORT1_ENST00000538502.1_Missense_Mutation_p.P610S	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	747	Interactions with LRPAP1 and NGFB.				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TGTTTTTCCGGACTCAAAAAG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	134	135			NA	NA	1		NA											NA				109859483		2203	4300	6503	SO:0001583	missense			BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243	6272	6272			11186	protein-coding gene	gene with protein product		602458			NA		Standard	NM_002959	NM_002959	NA	Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.2239C>T	1.37:g.109859483G>A	ENSP00000256637:p.Pro747Ser	NA	C0JYZ0|Q8IZ49	37	CCDS798.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313533	0.40996	.	.	ENSG00000134243	ENST00000256637;ENST00000538502	T;T	0.14266	2.52;2.55	5.65	4.7	0.59300	.	0.412269	0.26757	N	0.022655	T	0.02380	0.0073	N	0.12182	0.205	0.47276	D	0.999379	B;B	0.20261	0.019;0.043	B;B	0.11329	0.003;0.006	T	0.40001	-0.9586	10	0.20046	T	0.44	-5.7976	8.1127	0.30924	0.1928:0.0:0.8072:0.0	.	610;747	B4DWI3;Q99523	.;SORT_HUMAN	S	747;610	ENSP00000256637:P747S;ENSP00000438597:P610S	ENSP00000256637:P747S	P	-	1	0	SORT1	109661006	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.323000	0.65858	1.295000	0.44724	-0.345000	0.07892	CCG	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033179.1		-	ENST00000256637.6	Missense_Mutation	SNP	1 : 109859483 - 109859483 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	556	64
UNC80	285175	broad.mit.edu	37	2	210642102	210642102	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:210642102G>A	ENST00000272845.6	+	4	453	c.419G>A	c.(418-420)aGc>aAc	p.S140N	UNC80_ENST00000439458.1_Missense_Mutation_p.S140N|UNC80_ENST00000478701.1_3'UTR	NM_182587.3	NP_872393.3	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	NA						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						CGAGGCTCCAGCTGGGGTGGA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	63	61			NA	NA	2		NA											NA				210642102		2203	4300	6503	SO:0001583	missense			AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406	285175	285175			26582	protein-coding gene	gene with protein product		612636	chromosome 2 open reading frame 21	C2orf21	NA	19092807	Standard	NM_182587	NM_032504	NA	Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000272845.6:c.419G>A	2.37:g.210642102G>A	ENSP00000272845:p.Ser140Asn	NA	B2RN50|B4DQY9|B4DZB3|C4IXS8|Q96JI4|Q96SS0	37	CCDS2387.2	.	.	.	.	.	.	.	.	.	.	G	33	5.283898	0.95489	.	.	ENSG00000144406	ENST00000439458;ENST00000281753;ENST00000272845	T;T	0.33438	1.41;1.41	6.08	6.08	0.98989	.	0.092911	0.85682	D	0.000000	T	0.21062	0.0507	N	0.08118	0	0.80722	D	1	B;P	0.41848	0.275;0.763	B;B	0.39027	0.12;0.288	T	0.06734	-1.0810	10	0.59425	D	0.04	.	18.844	0.92196	0.0:0.0:1.0:0.0	.	140;140	Q8N2C7;Q8N2C7-3	UNC80_HUMAN;.	N	140	ENSP00000391088:S140N;ENSP00000272845:S140N	ENSP00000272845:S140N	S	+	2	0	UNC80	210350347	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.194000	0.94962	2.894000	0.99253	0.655000	0.94253	AGC	UNC80-007	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336930.2		+	ENST00000272845.6	Missense_Mutation	SNP	2 : 210642102 - 210642102 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	445	67
SLC38A10	124565	broad.mit.edu	37	17	79226464	79226464	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79226464G>A	ENST00000374759.3	-	13	1859	c.1476C>T	c.(1474-1476)ggC>ggT	p.G492G	SLC38A10_ENST00000288439.5_Silent_p.G492G	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	492					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GGTGGGCCTCGCCCACAGGCA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0									,	1,4397		0,1,2198	48	40	43		1476,1476	-8.5	0.6	17		43	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous	SLC38A10	NM_001037984.1,NM_138570.2	,	0,1,6494	AA,AG,GG	NA	0.0,0.0227,0.0077	,	492/1120,492/781	79226464	1,12989	2199	4296	6495	SO:0001819	synonymous_variant			BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637	124565	124565		Solute carriers	28237	protein-coding gene	gene with protein product					NA		Standard	NM_138570	XM_005257019	NA	Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.1476C>T	17.37:g.79226464G>A		NA	Q6ZRC5|Q8NA99|Q96C66	37	CCDS42397.1																																																																																			SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397747.1		-	ENST00000374759.3	Silent	SNP	17 : 79226464 - 79226464 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	453	83
MYH15	22989	broad.mit.edu	37	3	108214643	108214643	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108214643T>C	ENST00000273353.3	-	8	811	c.755A>G	c.(754-756)gAc>gGc	p.D252G		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	252	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AGAGGAGTTGTCATTTCTCAG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	115	119			NA	NA	3		NA											NA				108214643		1862	4090	5952	SO:0001583	missense			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821	22989	22989		Myosins / Myosin superfamily : Class II	31073	protein-coding gene	gene with protein product		609929	myosin, heavy polypeptide 15		NA	15014174, 15042088	Standard	XM_036988	NM_014981	NA	Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.755A>G	3.37:g.108214643T>C	ENSP00000273353:p.Asp252Gly	NA		37	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.408928	0.83340	.	.	ENSG00000144821	ENST00000273353	D	0.88975	-2.45	5.03	5.03	0.67393	Myosin head, motor domain (3);	.	.	.	.	D	0.97090	0.9049	H	0.99368	4.535	0.51482	D	0.999925	D	0.89917	1.0	D	0.91635	0.999	D	0.98720	1.0708	9	0.87932	D	0	.	14.7471	0.69496	0.0:0.0:0.0:1.0	.	252	Q9Y2K3	MYH15_HUMAN	G	252	ENSP00000273353:D252G	ENSP00000273353:D252G	D	-	2	0	MYH15	109697333	1.000000	0.71417	0.717000	0.30585	0.983000	0.72400	3.912000	0.56386	2.027000	0.59764	0.533000	0.62120	GAC	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353935.1		-	ENST00000273353.3	Missense_Mutation	SNP	3 : 108214643 - 108214643 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	142	19
LLGL1	3996	broad.mit.edu	37	17	18145222	18145222	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18145222G>T	ENST00000316843.4	+	19	2887	c.2791G>T	c.(2791-2793)Gaa>Taa	p.E931*		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	931					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					ATCCCCATCAGAATTTGAACG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	86	86			NA	NA	17		NA											NA				18145222		2203	4300	6503	SO:0001587	stop_gained				CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899	3996	3996		WD repeat domain containing	6628	protein-coding gene	gene with protein product		600966	lethal giant larvae (Drosophila) homolog 1	DLG4, LLGL, HUGL, HUGL-1	NA	7542763, 8565641	Standard		XM_005256643	NA	Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.2791G>T	17.37:g.18145222G>T	ENSP00000321537:p.Glu931*	NA	A7MBM7|O00188|Q58F11|Q86UK6	37	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	G	40	8.437037	0.98810	.	.	ENSG00000131899	ENST00000316843	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.7618	19.5134	0.95153	0.0:0.0:1.0:0.0	.	.	.	.	X	931	.	ENSP00000321537:E931X	E	+	1	0	LLGL1	18085947	1.000000	0.71417	0.940000	0.37924	0.827000	0.46813	9.350000	0.97070	2.696000	0.92011	0.655000	0.94253	GAA	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132067.3		+	ENST00000316843.4	Nonsense_Mutation	SNP	17 : 18145222 - 18145222 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	637	104
PTPRB	5787	broad.mit.edu	37	12	71029672	71029672	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:71029672C>A	ENST00000550358.1	-	2	255	c.230G>T	c.(229-231)gGc>gTc	p.G77V	PTPRB_ENST00000551525.1_Missense_Mutation_p.G76V|PTPRB_ENST00000334414.6_Missense_Mutation_p.G77V|PTPRB_ENST00000538174.2_5'UTR			P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 1.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GCGGGAGGGGCCGCGGGAAGA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	68	68			NA	NA	12		NA											NA				71029672		2000	4164	6164	SO:0001583	missense			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11					NA	5787		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing	9665	protein-coding gene	gene with protein product		176882		PTPB	NA	2169617	Standard		NM_001109754	NA	Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000550358.1:c.230G>T	12.37:g.71029672C>A	ENSP00000448058:p.Gly77Val	NA	B7ZKT0|C9JX87|Q14D85|Q3MIV7	37		.	.	.	.	.	.	.	.	.	.	C	9.099	1.003628	0.19121	.	.	ENSG00000127329	ENST00000334414;ENST00000550358;ENST00000544694;ENST00000551525	T;T;T	0.30448	1.53;1.53;1.53	6.04	2.52	0.30459	.	.	.	.	.	T	0.21062	0.0507	N	0.14661	0.345	0.09310	N	0.999999	P;P;P;P	0.39352	0.669;0.617;0.617;0.617	B;B;B;B	0.43889	0.435;0.178;0.173;0.173	T	0.10314	-1.0635	9	0.72032	D	0.01	.	5.8923	0.18919	0.1244:0.3332:0.4654:0.077	.	77;76;77;77	Q6ZTX7;F8VSD5;P23467-3;F8VU56	.;.;.;.	V	77;77;77;76	ENSP00000334928:G77V;ENSP00000448058:G77V;ENSP00000448349:G76V	ENSP00000334928:G77V	G	-	2	0	PTPRB	69315939	0.062000	0.20869	0.080000	0.20451	0.021000	0.10359	1.654000	0.37334	1.553000	0.49476	-0.300000	0.09419	GGC	PTPRB-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000404436.1		-	ENST00000550358.1	Missense_Mutation	SNP	12 : 71029672 - 71029672 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	153	26
MYH7B	57644	broad.mit.edu	37	20	33577604	33577604	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33577604G>T	ENST00000262873.7	+	18	1867	c.1775G>T	c.(1774-1776)aGc>aTc	p.S592I		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	550	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TCAGACGCCAGCTTCCGGGCC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	63	61			NA	NA	20		NA											NA				33577604		2201	4300	6501	SO:0001583	missense			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814	57644	57644		Myosins / Myosin superfamily : Class II	15906	protein-coding gene	gene with protein product		609928	myosin, heavy polypeptide 7B, cardiac muscle, beta		NA	11919279, 15014174	Standard	NM_020884	XM_006723839	NA	Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.1775G>T	20.37:g.33577604G>T	ENSP00000262873:p.Ser592Ile	NA	Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	37	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381992	0.61845	.	.	ENSG00000078814	ENST00000262873	D	0.88431	-2.38	4.5	4.5	0.54988	Myosin head, motor domain (2);	0.000000	0.45361	D	0.000376	D	0.92935	0.7752	M	0.92026	3.265	0.37939	D	0.932263	P	0.45569	0.861	P	0.49887	0.625	D	0.95124	0.8249	10	0.87932	D	0	.	12.2402	0.54538	0.0:0.3167:0.6833:0.0	.	550	A7E2Y1	MYH7B_HUMAN	I	592	ENSP00000262873:S592I	ENSP00000262873:S592I	S	+	2	0	MYH7B	33041265	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	3.988000	0.56951	2.503000	0.84419	0.561000	0.74099	AGC	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078833.2		+	ENST00000262873.7	Missense_Mutation	SNP	20 : 33577604 - 33577604 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	373	17
PCDHGA4	56111	broad.mit.edu	37	5	140735709	140735709	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140735709C>T	ENST00000571252.1	+	1	942	c.942C>T	c.(940-942)ttC>ttT	p.F314F	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740			protocadherin gamma subfamily A, 4	NA										endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCTGGATTCTATGACATAG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	50	50			NA	NA	5		NA											NA				140735709		1853	4103	5956	SO:0001819	synonymous_variant			AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26					56111	56111		Cadherins / Protocadherins : Clustered	8702	other	protocadherin		606291			NA	10380929	Standard	NM_018917	NM_018917	NA	Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.942C>T	5.37:g.140735709C>T		NA		37	CCDS58979.1																																																																																			PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437959.1		+	ENST00000571252.1	Silent	SNP	5 : 140735709 - 140735709 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	124	30
SYNGAP1	8831	broad.mit.edu	37	6	33391298	33391298	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33391298C>T	ENST00000418600.2	+	2	213	c.112C>T	c.(112-114)Ccg>Tcg	p.P38S	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.P38S|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	38					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CGTTCATTCCCCGTATGATCG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													251	217	229			NA	NA	6		NA											NA				33391298		2203	4300	6503	SO:0001583	missense			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283	8831	8831			11497	protein-coding gene	gene with protein product		603384	synaptic Ras GTPase activating protein 1 homolog (rat)		NA	9581761, 18323856	Standard	XM_166407	NM_006772	NA	Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.112C>T	6.37:g.33391298C>T	ENSP00000403636:p.Pro38Ser	NA	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	37	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612820	0.46631	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372	T;T	0.17213	2.29;2.38	3.73	3.73	0.42828	Pleckstrin homology domain (1);	0.324033	0.23633	N	0.046106	T	0.19604	0.0471	L	0.38838	1.175	0.32577	N	0.528992	P;P;B	0.51449	0.909;0.945;0.01	P;D;B	0.67900	0.901;0.954;0.004	T	0.01081	-1.1458	10	0.87932	D	0	.	13.4332	0.61068	0.0:1.0:0.0:0.0	.	38;38;38	Q96PV0;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.	S	38	ENSP00000293748:P38S;ENSP00000403636:P38S	ENSP00000293748:P38S	P	+	1	0	SYNGAP1	33499276	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	4.310000	0.59141	2.098000	0.63641	0.555000	0.69702	CCG	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076151.4		+	ENST00000418600.2	Missense_Mutation	SNP	6 : 33391298 - 33391298 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	824	141
TBX4	9496	broad.mit.edu	37	17	59560702	59560702	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:59560702G>A	ENST00000393853.4	+	9	1629	c.1466G>A	c.(1465-1467)aGc>aAc	p.S489N	TBX4_ENST00000240335.1_Missense_Mutation_p.S488N|TBX4_ENST00000589449.1_3'UTR			P57082	TBX4_HUMAN	T-box 4	488					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CGGGGGCCCAGCGCCTCATTC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	58	58			NA	NA	17		NA											NA				59560702		2203	4300	6503	SO:0001583	missense			AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075	9496	9496		T-boxes	11603	protein-coding gene	gene with protein product		601719			NA	10945475	Standard	NM_018488	NM_018488	NA	Approved		uc002izi.3	P57082		ENST00000393853.4:c.1466G>A	17.37:g.59560702G>A	ENSP00000377435:p.Ser489Asn	NA	B2RMT1	37		.	.	.	.	.	.	.	.	.	.	G	6.717	0.501072	0.12822	.	.	ENSG00000121075	ENST00000393853;ENST00000240335	T;T	0.42131	0.98;0.98	5.34	0.827	0.18835	.	1.492660	0.03395	N	0.202441	T	0.39064	0.1064	L	0.34521	1.04	0.09310	N	1	B;B	0.15719	0.014;0.003	B;B	0.12837	0.008;0.002	T	0.42310	-0.9459	9	.	.	.	.	17.2199	0.86954	0.0:0.4701:0.5299:0.0	.	489;488	A5PKU7;P57082	.;TBX4_HUMAN	N	489;488	ENSP00000377435:S489N;ENSP00000240335:S488N	.	S	+	2	0	TBX4	56915484	0.000000	0.05858	0.000000	0.03702	0.183000	0.23260	0.481000	0.22260	-0.046000	0.13446	-0.165000	0.13383	AGC	TBX4-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000449648.1		+	ENST00000393853.4	Missense_Mutation	SNP	17 : 59560702 - 59560702 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	390	74
ENKUR	219670	broad.mit.edu	37	10	25273753	25273753	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:25273753G>A	ENST00000331161.4	-	5	895	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	ENKUR_ENST00000376363.1_Missense_Mutation_p.R226C	NM_145010.3	NP_659447.1	Q8TC29	ENKUR_HUMAN	enkurin, TRPC channel interacting protein	226						cilium|flagellum	calmodulin binding|SH3 domain binding			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						CTCTGCTTGCGGATCTTCTTT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	105	107			NA	NA	10		NA											NA				25273753		2203	4300	6503	SO:0001583	missense			AK095021	CCDS7146.1, CCDS73075.1	10p12.31	2014-08-13	2009-04-28	2009-04-28	ENSG00000151023	ENSG00000151023	219670	219670			28388	protein-coding gene	gene with protein product		611025	chromosome 10 open reading frame 63	C10orf63	NA	17217053, 15385169	Standard	NM_145010	NM_145010	NA	Approved	MGC26778, enkurin, CFAP106	uc001isg.2	Q8TC29	OTTHUMG00000017827	ENST00000331161.4:c.676C>T	10.37:g.25273753G>A	ENSP00000331044:p.Arg226Cys	NA	A8K8Y0|D3DRV2	37	CCDS7146.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.094431	0.56075	.	.	ENSG00000151023	ENST00000331161;ENST00000376363	.	.	.	5.25	5.25	0.73442	.	0.363904	0.32473	N	0.006055	T	0.79879	0.4522	M	0.84082	2.675	0.43657	D	0.996073	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.82528	-0.0412	9	0.87932	D	0	-25.1717	13.5449	0.61697	0.078:0.0:0.922:0.0	.	226;226	Q5VV23;Q8TC29	.;ENKUR_HUMAN	C	226	.	ENSP00000331044:R226C	R	-	1	0	ENKUR	25313759	0.995000	0.38212	0.908000	0.35775	0.524000	0.34500	2.989000	0.49393	2.602000	0.87976	0.557000	0.71058	CGC	ENKUR-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047239.2		-	ENST00000331161.4	Missense_Mutation	SNP	10 : 25273753 - 25273753 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	62
CARS2	79587	broad.mit.edu	37	13	111329415	111329415	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111329415G>T	ENST00000257347.4	-	7	754	c.691C>A	c.(691-693)Ctg>Atg	p.L231M	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	231					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	GCCTTCCACAGGGCGAAGTCA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	56	55			NA	NA	13		NA											NA				111329415		2203	4300	6503	SO:0001583	missense			BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	79587	79587	6.1.1.16	Aminoacyl tRNA synthetases / Class I	25695	protein-coding gene	gene with protein product	cysteine tRNA ligase 2, mitochondrial (putative)	612800			NA	15779907	Standard	NM_024537	NM_024537	NA	Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347	ENST00000257347.4:c.691C>A	13.37:g.111329415G>T	ENSP00000257347:p.Leu231Met	NA	Q8NI84|Q96IV4	37	CCDS9514.1	.	.	.	.	.	.	.	.	.	.	g	13.63	2.294309	0.40594	.	.	ENSG00000134905	ENST00000257347	T	0.69435	-0.4	5.42	3.69	0.42338	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.64402	D	0.000004	D	0.85522	0.5716	H	0.95884	3.735	0.53688	D	0.99997	D	0.89917	1.0	D	0.83275	0.996	D	0.86316	0.1689	10	0.72032	D	0.01	-25.8936	9.4363	0.38641	0.2184:0.0:0.7816:0.0	.	231	Q9HA77	SYCM_HUMAN	M	231	ENSP00000257347:L231M	ENSP00000257347:L231M	L	-	1	2	CARS2	110127416	0.998000	0.40836	0.914000	0.36105	0.114000	0.19823	2.351000	0.44071	0.673000	0.31224	-0.299000	0.09455	CTG	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045772.3		-	ENST00000257347.4	Missense_Mutation	SNP	13 : 111329415 - 111329415 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	365	77
HHIPL1	84439	broad.mit.edu	37	14	100135184	100135184	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100135184C>T	ENST00000357223.2	+	8	1811	c.1746C>T	c.(1744-1746)agC>agT	p.S582S	HHIPL1_ENST00000330710.5_Intron	NM_032425.4	NP_115801.3	Q96JK4	HIPL1_HUMAN	HHIP-like 1	578					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				AGGCCAGAAGCGCCATGCCCG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	0,4406		0,0,2203	94	94	94		,1746	-4.2	0	14		94	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous	HHIPL1	NM_001127258.1,NM_032425.4	,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,	,582/609	100135184	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218	84439	84439			19710	protein-coding gene	gene with protein product			KIAA1822	KIAA1822	NA		Standard	XM_041566	NM_032425	NA	Approved		uc010avs.3	Q96JK4		ENST00000357223.2:c.1746C>T	14.37:g.100135184C>T		NA	A2RUF8|B2RN09|Q6UXX2	37	CCDS9953.1																																																																																			HHIPL1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413812.1		+	ENST00000357223.2	Silent	SNP	14 : 100135184 - 100135184 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	674	121
HAPLN3	145864	broad.mit.edu	37	15	89421380	89421380	+	Missense_Mutation	SNP	C	C	T	rs145650819		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89421380C>T	ENST00000562889.1	-	6	1228	c.1090G>A	c.(1090-1092)Gcc>Acc	p.A364T	HAPLN3_ENST00000359595.3_Missense_Mutation_p.A302T			Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	302					cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					AACTTCCAGGCGGCAAAGAGC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	THR/ALA	0,4400		0,0,2200	150	139	143		904	2.8	0.5	15	dbSNP_134	143	1,8597	1.2+/-3.3	0,1,4298	no	missense	HAPLN3	NM_178232.2	58	0,1,6498	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	302/361	89421380	1,12997	2200	4299	6499	SO:0001583	missense			AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511	145864	145864		Immunoglobulin superfamily / V-set domain containing	21446	protein-coding gene	gene with protein product			extracellular link domain containing, 1	EXLD1	NA	12663660	Standard	NM_178232	NM_178232	NA	Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000562889.1:c.1090G>A	15.37:g.89421380C>T	ENSP00000457180:p.Ala364Thr	NA	A8K7P0	37		.	.	.	.	.	.	.	.	.	.	C	24.7	4.563356	0.86335	0.0	1.16E-4	ENSG00000140511	ENST00000359595	T	0.18502	2.21	4.7	2.76	0.32466	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.000000	0.85682	D	0.000000	T	0.46521	0.1397	M	0.92604	3.325	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.48055	-0.9068	10	0.87932	D	0	-17.0017	8.2766	0.31877	0.1553:0.761:0.0:0.0837	.	302;302	A8K7T8;Q96S86	.;HPLN3_HUMAN	T	302	ENSP00000352606:A302T	ENSP00000352606:A302T	A	-	1	0	HAPLN3	87222384	1.000000	0.71417	0.544000	0.28141	0.929000	0.56500	7.391000	0.79828	0.481000	0.27557	0.655000	0.94253	GCC	HAPLN3-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000415570.2		-	ENST00000562889.1	Missense_Mutation	SNP	15 : 89421380 - 89421380 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	924	33
PCDH18	54510	broad.mit.edu	37	4	138452324	138452324	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:138452324T>G	ENST00000507846.1	-	2	812	c.259A>C	c.(259-261)Act>Cct	p.T87P	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000344876.4_Missense_Mutation_p.T307P|PCDH18_ENST00000412923.2_Missense_Mutation_p.T307P			Q9HCL0	PCD18_HUMAN	protocadherin 18	307	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TTGAAAAGAGTCAAATGTCCT	0.378		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				138452324		2201	4299	6500	SO:0001583	missense			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184	54510	54510		Cadherins / Protocadherins : Non-clustered	14268	protein-coding gene	gene with protein product		608287			NA	10835267, 11549318	Standard	NM_019035	XM_005263070	NA	Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000507846.1:c.259A>C	4.37:g.138452324T>G	ENSP00000425903:p.Thr87Pro	NA	A8K7K3|B7ZKT1|Q52LS2	37		.	.	.	.	.	.	.	.	.	.	T	13.94	2.387495	0.42308	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.55234	0.53;0.53;0.53	5.89	5.89	0.94794	Cadherin (4);Cadherin-like (1);	0.000000	0.44688	D	0.000440	T	0.81513	0.4838	H	0.95950	3.745	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;1.0	D	0.86612	0.1873	10	0.52906	T	0.07	.	16.3083	0.82859	0.0:0.0:0.0:1.0	.	87;307;307	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	P	307;307;87	ENSP00000355082:T307P;ENSP00000390688:T307P;ENSP00000425903:T87P	ENSP00000355082:T307P	T	-	1	0	PCDH18	138671774	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	6.093000	0.71422	2.250000	0.74265	0.455000	0.32223	ACT	PCDH18-003	NOVEL	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000364616.1		-	ENST00000507846.1	Missense_Mutation	SNP	4 : 138452324 - 138452324 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	46
LRRIQ1	84125	broad.mit.edu	37	12	85623425	85623425	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:85623425A>T	ENST00000393217.2	+	25	5014	c.4953A>T	c.(4951-4953)aaA>aaT	p.K1651N	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1651										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GAAATATGAAATGGTGAGGTC	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	77	79			NA	NA	12		NA											NA				85623425		1828	4076	5904	SO:0001583	missense			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640	84125	84125			25708	protein-coding gene	gene with protein product					NA	11347906	Standard	NM_032165	NM_001079910	NA	Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4953A>T	12.37:g.85623425A>T	ENSP00000376910:p.Lys1651Asn	NA	Q567P4|Q9BS17|Q9HA36	37	CCDS41816.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.38|15.38	2.816446|2.816446	0.50527|0.50527	.|.	.|.	ENSG00000133640|ENSG00000133640	ENST00000393217|ENST00000526363	T|.	0.54279|.	0.58|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|.	.|.	.|.	.|.	T|T	0.43411|0.43411	0.1246|0.1246	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.72075|.	0.976|.	T|T	0.34800|0.34800	-0.9814|-0.9814	9|5	0.59425|.	D|.	0.04|.	.|.	9.4014|9.4014	0.38435|0.38435	0.9132:0.0:0.0868:0.0|0.9132:0.0:0.0868:0.0	.|.	1651|.	Q96JM4|.	LRIQ1_HUMAN|.	N|I	1651|72	ENSP00000376910:K1651N|.	ENSP00000376910:K1651N|.	K|N	+|+	3|2	2|0	LRRIQ1|LRRIQ1	84147556|84147556	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	2.872000|2.872000	0.48467|0.48467	2.263000|2.263000	0.75096|0.75096	0.528000|0.528000	0.53228|0.53228	AAA|AAT	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388249.2		+	ENST00000393217.2	Missense_Mutation	SNP	12 : 85623425 - 85623425 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	374	72
GPAT2	150763	broad.mit.edu	37	2	96691710	96691710	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96691710C>A	ENST00000434632.1	-	13	1665	c.1206G>T	c.(1204-1206)gaG>gaT	p.E402D	GPAT2_ENST00000453542.1_Missense_Mutation_p.E331D|GPAT2_ENST00000359548.4_Missense_Mutation_p.E402D|GPAT2_ENST00000377137.3_Missense_Mutation_p.E402D			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	402					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						GCAGTAGCTGCTCCAGGGTCT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	33	33			NA	NA	2		NA											NA				96691710		1977	4159	6136	SO:0001583	missense			BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281	150763	150763			27168	protein-coding gene	gene with protein product	cancer/testis antigen 123				NA	12477932	Standard	NM_207328	NM_207328	NA	Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.1206G>T	2.37:g.96691710C>A	ENSP00000389395:p.Glu402Asp	NA	Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	37	CCDS42714.1	.	.	.	.	.	.	.	.	.	.	c	17.06	3.293477	0.60086	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542;ENST00000377137	T;T;T;T	0.80214	-1.35;-1.35;-0.39;-1.34	4.7	1.81	0.25067	.	0.065530	0.64402	D	0.000008	D	0.83156	0.5193	M	0.65498	2.005	0.29525	N	0.853173	D;D;D;D;P	0.69078	0.971;0.997;0.991;0.997;0.565	P;P;P;P;P	0.61201	0.79;0.885;0.798;0.885;0.569	T	0.75803	-0.3189	10	0.40728	T	0.16	-15.498	5.8985	0.18953	0.0:0.6541:0.0:0.3459	.	331;402;402;402;331	E9PE95;Q6NUI2-3;Q6NUI2-4;Q6NUI2;B4DNZ9	.;.;.;GPAT2_HUMAN;.	D	402;402;331;402	ENSP00000352547:E402D;ENSP00000389395:E402D;ENSP00000393770:E331D;ENSP00000366341:E402D	ENSP00000352547:E402D	E	-	3	2	GPAT2	96055437	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	1.403000	0.34612	0.383000	0.24910	0.557000	0.71058	GAG	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000338786.1		-	ENST00000434632.1	Missense_Mutation	SNP	2 : 96691710 - 96691710 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	67
RTN4R	65078	broad.mit.edu	37	22	20230563	20230563	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20230563G>A	ENST00000469601.1	-	0	228				RTN4R_ENST00000043402.7_Silent_p.C31C			Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	NA					axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					TGTAGCATACGCAGGCACCTG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	23	23			NA	NA	22		NA											NA				20230563		2191	4268	6459	SO:0001623	5_prime_UTR_variant			AF283463	CCDS13777.1	22q11	2008-05-02			ENSG00000040608	ENSG00000040608	65078	65078			18601	protein-coding gene	gene with protein product		605566			NA	11201742	Standard		NM_023004	NA	Approved	NOGOR	uc002zrv.3	Q9BZR6	OTTHUMG00000150572	ENST00000469601.1:c.-444C>T	22.37:g.20230563G>A		NA	D3DX28	37		.	.	.	.	.	.	.	.	.	.	G	0.746	-0.774633	0.02951	.	.	ENSG00000040608	ENST00000416372;ENST00000425986	.	.	.	4.65	-9.3	0.00649	.	.	.	.	.	T	0.60625	0.2283	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70382	-0.4887	4	.	.	.	.	15.0807	0.72113	0.6639:0.0:0.3361:0.0	.	.	.	.	V	51;117	.	.	A	-	2	0	RTN4R	18610563	0.000000	0.05858	0.378000	0.26068	0.161000	0.22273	-4.388000	0.00242	-2.350000	0.00617	-2.488000	0.00195	GCG	RTN4R-006	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000318968.1		-	ENST00000469601.1	5'UTR	SNP	22 : 20230563 - 20230563 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	225	58
PXDN	7837	broad.mit.edu	37	2	1677465	1677465	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1677465G>A	ENST00000252804.4	-	9	1018	c.968C>T	c.(967-969)gCc>gTc	p.A323V	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	323	Ig-like C2-type 1.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CACCTCTCCGGCCACGTTCTT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													185	189	188			NA	NA	2		NA											NA				1677465		2098	4229	6327	SO:0001583	missense			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508	7837	7837		Immunoglobulin superfamily / I-set domain containing	14966	protein-coding gene	gene with protein product		605158			NA	10441517, 9039502	Standard	XM_056455	XM_005264707	NA	Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.968C>T	2.37:g.1677465G>A	ENSP00000252804:p.Ala323Val	NA	A8QM65|D6W4Y0|Q4KMG2	37	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.07|12.07	1.828350|1.828350	0.32329|0.32329	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000252804|ENST00000433670	T|.	0.66995|.	-0.24|.	5.42|5.42	5.42|5.42	0.78866|0.78866	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.50069|0.50069	0.1594|0.1594	N|N	0.14661|0.14661	0.345|0.345	0.58432|0.58432	D|D	0.999997|0.999997	B;B|.	0.30664|.	0.095;0.289|.	B;B|.	0.40940|.	0.075;0.344|.	T|T	0.43734|0.43734	-0.9373|-0.9373	10|5	0.33141|.	T|.	0.24|.	-21.0506|-21.0506	17.7383|17.7383	0.88400|0.88400	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	323;323|.	Q92626-2;Q92626|.	.;PXDN_HUMAN|.	V|S	323|319	ENSP00000252804:A323V|.	ENSP00000252804:A323V|.	A|P	-|-	2|1	0|0	PXDN|PXDN	1656472|1656472	1.000000|1.000000	0.71417|0.71417	0.529000|0.529000	0.27951|0.27951	0.970000|0.970000	0.65996|0.65996	9.691000|9.691000	0.98679|0.98679	2.691000|2.691000	0.91804|0.91804	0.561000|0.561000	0.74099|0.74099	GCC|CCG	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322505.1		-	ENST00000252804.4	Missense_Mutation	SNP	2 : 1677465 - 1677465 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	980	239
PCDHA10	56139	broad.mit.edu	37	5	140236636	140236636	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140236636G>A	ENST00000307360.5	+	1	1003	c.1003G>A	c.(1003-1005)Gtc>Atc	p.V335I	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.V335I|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018901.2	NP_061724.1			protocadherin alpha 10	NA										NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACTGCACGGTCCTAGTGGA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	138	141			NA	NA	5		NA											NA				140236636		2196	4271	6467	SO:0001583	missense			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120	56139	56139		Cadherins / Protocadherins : Clustered	8664	other	complex locus constituent	KIAA0345-like 4, ortholog to mouse CNR8	606316		CNRS8	NA	10380929	Standard	NM_018901	NM_018901	NA	Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1003G>A	5.37:g.140236636G>A	ENSP00000304234:p.Val335Ile	NA		37	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812823	0.32053	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.59906	0.23;0.23	4.15	3.25	0.37280	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.58424	0.2121	L	0.51422	1.61	0.24712	N	0.993192	B;B;B	0.31256	0.316;0.237;0.146	B;B;B	0.41036	0.346;0.181;0.254	T	0.53563	-0.8421	9	0.37606	T	0.19	.	12.8103	0.57635	0.0:0.3147:0.6853:0.0	.	335;335;335	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	I	335	ENSP00000421030:V335I;ENSP00000304234:V335I	ENSP00000304234:V335I	V	+	1	0	PCDHA10	140216820	0.193000	0.23313	0.031000	0.17742	0.713000	0.41058	0.490000	0.22403	1.046000	0.40249	0.561000	0.74099	GTC	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372895.2		+	ENST00000307360.5	Missense_Mutation	SNP	5 : 140236636 - 140236636 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	616	120
VIM	7431	broad.mit.edu	37	10	17276772	17276772	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17276772A>G	ENST00000224237.5	+	5	1108	c.963A>G	c.(961-963)agA>agG	p.R321R	RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000544301.1_Silent_p.R321R			P08670	VIME_HUMAN	vimentin	321	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGTACCGGAGACAGGTGCAGT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	77	80			NA	NA	10		NA											NA				17276772		2203	4300	6503	SO:0001819	synonymous_variant			M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025	7431	7431		Intermediate filaments type III	12692	protein-coding gene	gene with protein product		193060			NA		Standard	NM_003380	NM_003380	NA	Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.963A>G	10.37:g.17276772A>G		NA	B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	37	CCDS7120.1																																																																																			VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047015.1		+	ENST00000224237.5	Silent	SNP	10 : 17276772 - 17276772 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	53
RP11-81K2.1	0	broad.mit.edu	37	17	47486797	47486797	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47486797G>A	ENST00000576461.1	+	2	270				PHB_ENST00000300408.3_Missense_Mutation_p.R97W|PHB_ENST00000508009.1_5'UTR|PHB_ENST00000511832.1_Missense_Mutation_p.R97W						NA											NA						GCGACAGGCCGGAAGAGGATG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	83	83			NA	NA	17		NA											NA				47486797		2203	4300	6503	SO:0001627	intron_variant											NA	NA			NA							NA					NA						ENST00000576461.1:c.178+36349G>A	17.37:g.47486797G>A		NA		37		.	.	.	.	.	.	.	.	.	.	G	15.96	2.985805	0.53934	.	.	ENSG00000167085	ENST00000300408;ENST00000511832;ENST00000419140;ENST00000504124;ENST00000512041;ENST00000446735;ENST00000434917	D;D;D;D;D;D;D	0.95980	-3.87;-3.87;-3.87;-3.87;-3.87;-3.87;-3.87	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.94716	0.8295	M	0.78916	2.43	0.80722	D	1	B	0.31680	0.335	B	0.33454	0.164	D	0.94256	0.7498	10	0.59425	D	0.04	.	13.1005	0.59218	0.0:0.0:0.7967:0.2033	.	97	P35232	PHB_HUMAN	W	97	ENSP00000300408:R97W;ENSP00000425035:R97W;ENSP00000393320:R97W;ENSP00000426433:R97W;ENSP00000422182:R97W;ENSP00000407828:R97W;ENSP00000410680:R97W	ENSP00000300408:R97W	R	-	1	2	PHB	44841796	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	4.076000	0.57591	2.350000	0.79820	0.462000	0.41574	CGG	RP11-81K2.1-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000439714.1		+	ENST00000576461.1	Intron	SNP	17 : 47486797 - 47486797 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	346	66
STAT1	6772	broad.mit.edu	37	2	191840588	191840588	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191840588G>A	ENST00000392323.2	-	24	2502	c.2091C>T	c.(2089-2091)ggC>ggT	p.G697G	STAT1_ENST00000392322.3_Silent_p.G695G|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000361099.3_Silent_p.G695G|STAT1_ENST00000409465.1_Silent_p.G695G			P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	695					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TTCCTTTAGGGCCATCAAGTT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	104	109			NA	NA	2		NA											NA				191840588		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415	6772	6772		SH2 domain containing	11362	protein-coding gene	gene with protein product	transcription factor ISGF-3 components p91/p84	600555	signal transducer and activator of transcription 1, 91kD		NA	7885841	Standard	NM_007315	NM_139266	NA	Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000392323.2:c.2091C>T	2.37:g.191840588G>A		NA	A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	37																																																																																				STAT1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000257868.2		-	ENST00000392323.2	Silent	SNP	2 : 191840588 - 191840588 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	246	53
ZNF132	7691	broad.mit.edu	37	19	58945235	58945235	+	Missense_Mutation	SNP	G	G	A	rs142712450		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58945235G>A	ENST00000254166.3	-	3	1976	c.1576C>T	c.(1576-1578)Cgc>Tgc	p.R526C		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	526						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		CTGGAGCTGCGGCTGAAGGAT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	77	78	78		1576	1.4	0.9	19	dbSNP_134	78	0,8600		0,0,4300	no	missense	ZNF132	NM_003433.3	180	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging	526/707	58945235	1,13005	2203	4300	6503	SO:0001583	missense			U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849	7691	7691		Zinc fingers, C2H2-type, -	12916	protein-coding gene	gene with protein product		604074	zinc finger protein 132 (clone pHZ-12)		NA	7557990	Standard	NM_003433	NM_003433	NA	Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.1576C>T	19.37:g.58945235G>A	ENSP00000254166:p.Arg526Cys	NA	Q32MI9	37	CCDS12980.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.745748	0.30955	2.27E-4	0.0	ENSG00000131849	ENST00000254166	T	0.07567	3.18	3.57	1.36	0.22044	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05777	0.0151	L	0.31804	0.96	0.09310	N	1	B	0.24721	0.11	B	0.16289	0.015	T	0.39820	-0.9595	9	0.33141	T	0.24	.	6.1092	0.20092	0.3513:0.0:0.6487:0.0	.	526	P52740	ZN132_HUMAN	C	526	ENSP00000254166:R526C	ENSP00000254166:R526C	R	-	1	0	ZNF132	63637047	0.000000	0.05858	0.941000	0.38009	0.994000	0.84299	-2.749000	0.00793	0.146000	0.19002	0.655000	0.94253	CGC	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000467035.1		-	ENST00000254166.3	Missense_Mutation	SNP	19 : 58945235 - 58945235 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	336	63
SDPR	8436	broad.mit.edu	37	2	192711348	192711348	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:192711348T>C	ENST00000304141.4	-	1	633	c.304A>G	c.(304-306)Aag>Gag	p.K102E	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	102						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GCCTGGTACTTGGAGAGCTTG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	84	89			NA	NA	2		NA											NA				192711348		2203	4300	6503	SO:0001583	missense			AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497	8436	8436			10690	protein-coding gene	gene with protein product	phosphatidylserine binding protein	606728	serum deprivation response (phosphatidylserine-binding protein), serum deprivation response (phosphatidylserine binding protein)		NA	10191091, 8241023	Standard	NM_004657	NM_004657	NA	Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.304A>G	2.37:g.192711348T>C	ENSP00000305675:p.Lys102Glu	NA		37	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	T	16.67	3.188182	0.57909	.	.	ENSG00000168497	ENST00000304141	T	0.64991	-0.13	4.62	3.46	0.39613	.	0.135593	0.48767	N	0.000174	T	0.62816	0.2459	M	0.77313	2.365	0.42605	D	0.993296	P	0.38827	0.649	B	0.41510	0.359	T	0.65043	-0.6264	10	0.72032	D	0.01	-26.7125	7.3259	0.26555	0.0:0.0811:0.1555:0.7634	.	102	O95810	SDPR_HUMAN	E	102	ENSP00000305675:K102E	ENSP00000305675:K102E	K	-	1	0	SDPR	192419593	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.051000	0.57412	0.904000	0.36572	0.397000	0.26171	AAG	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334791.2		-	ENST00000304141.4	Missense_Mutation	SNP	2 : 192711348 - 192711348 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	302	50
ZNF385B	151126	broad.mit.edu	37	2	180310425	180310425	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:180310425C>T	ENST00000410066.1	-	8	1550	c.947G>A	c.(946-948)cGt>cAt	p.R316H	ZNF385B_ENST00000336917.5_Missense_Mutation_p.R214H|ZNF385B_ENST00000409692.1_Missense_Mutation_p.R214H|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_Missense_Mutation_p.R240H	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	316						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			AGCCCCATTACGAGCTTCAAC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(155;204 2491 32774 51842)							NA				0													124	113	117			NA	NA	2		NA											NA				180310425		2203	4300	6503	SO:0001583	missense			AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331	151126	151126			26332	protein-coding gene	gene with protein product		612344	zinc finger protein 533	ZNF533	NA	12477932	Standard	NM_152520	NM_152520	NA	Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.947G>A	2.37:g.180310425C>T	ENSP00000386845:p.Arg316His	NA	Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	37	CCDS33339.1	.	.	.	.	.	.	.	.	.	.	C	35	5.464584	0.96257	.	.	ENSG00000144331	ENST00000410066;ENST00000336917;ENST00000409343;ENST00000409692;ENST00000457304	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	5.95	5.95	0.96441	Zinc finger, U1-type (1);	0.000000	0.85682	D	0.000000	T	0.62913	0.2467	L	0.55834	1.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.987;0.997	T	0.57312	-0.7833	10	0.44086	T	0.13	-8.0555	20.3748	0.98911	0.0:1.0:0.0:0.0	.	316;240	Q569K4;Q569K4-2	Z385B_HUMAN;.	H	316;214;240;214;214	ENSP00000386845:R316H;ENSP00000338225:R214H;ENSP00000386379:R240H;ENSP00000386507:R214H;ENSP00000394038:R214H	ENSP00000338225:R214H	R	-	2	0	ZNF385B	180018670	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.817000	0.96982	0.563000	0.77884	CGT	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335972.1		-	ENST00000410066.1	Missense_Mutation	SNP	2 : 180310425 - 180310425 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	446	60
WEE2	494551	broad.mit.edu	37	7	141416030	141416030	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141416030C>T	ENST00000397541.2	+	3	954	c.548C>T	c.(547-549)gCt>gTt	p.A183V	WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000471512.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	183					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					AGTGAGGAAGCTGGTCCAGAG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	98	99			NA	NA	7		NA											NA				141416030		1912	4104	6016	SO:0001583	missense			AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102	494551	494551			19684	protein-coding gene	gene with protein product		614084			NA		Standard	NM_001105558	NM_001105558	NA	Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.548C>T	7.37:g.141416030C>T	ENSP00000380675:p.Ala183Val	NA		37	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	c	14.90	2.674752	0.47781	.	.	ENSG00000214102	ENST00000397541	T	0.23552	1.9	4.01	2.18	0.27775	.	11.907100	0.01046	U	0.004386	T	0.29288	0.0729	L	0.57536	1.79	0.09310	N	1	B	0.11235	0.004	B	0.14023	0.01	T	0.18713	-1.0328	10	0.42905	T	0.14	.	6.6502	0.22957	0.0:0.78:0.0:0.22	.	183	P0C1S8	WEE2_HUMAN	V	183	ENSP00000380675:A183V	ENSP00000380675:A183V	A	+	2	0	WEE2	141062499	0.047000	0.20315	0.013000	0.15412	0.928000	0.56348	1.146000	0.31589	0.461000	0.27071	0.556000	0.70494	GCT	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349091.1		+	ENST00000397541.2	Missense_Mutation	SNP	7 : 141416030 - 141416030 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	589	95
DYRK1A	1859	broad.mit.edu	37	21	38884724	38884724	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38884724C>T	ENST00000339659.4	+	11	3625	c.2155C>T	c.(2155-2157)Cct>Tct	p.P719S	DYRK1A_ENST00000455387.2_Missense_Mutation_p.P500S|DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000398960.2_Missense_Mutation_p.P728S	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	NA					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TAATACAGGTCCTGCACATTA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(114;464 1602 31203 43785 45765)							NA				0													112	101	105			NA	NA	21		NA											NA				38884724		2203	4300	6503	SO:0001583	missense			U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540	1859	1859			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH	NA	9284911	Standard	NM_001396	NM_130436	NA	Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000339659.4:c.2155C>T	21.37:g.38884724C>T	ENSP00000340373:p.Pro719Ser	NA	O60769|Q92582|Q92810|Q9UNM5	37	CCDS13653.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883449	0.33255	.	.	ENSG00000157540	ENST00000339659;ENST00000398960;ENST00000455387	T;T;T	0.58210	0.36;0.35;0.91	5.53	4.64	0.57946	.	0.099278	0.64402	N	0.000001	T	0.32164	0.0820	N	0.14661	0.345	0.53005	D	0.999964	B;B	0.32350	0.366;0.002	B;B	0.27500	0.08;0.005	T	0.10382	-1.0632	10	0.12103	T	0.63	.	14.5041	0.67741	0.0:0.9292:0.0:0.0708	.	728;719	Q13627;Q13627-2	DYR1A_HUMAN;.	S	719;728;500	ENSP00000340373:P719S;ENSP00000381932:P728S;ENSP00000407854:P500S	ENSP00000340373:P719S	P	+	1	0	DYRK1A	37806594	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.770000	0.62309	1.338000	0.45544	0.655000	0.94253	CCT	DYRK1A-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000194801.2		+	ENST00000339659.4	Missense_Mutation	SNP	21 : 38884724 - 38884724 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	344	33
RANBP17	64901	broad.mit.edu	37	5	170668042	170668042	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:170668042T>C	ENST00000523189.1	+	23	2697	c.2533T>C	c.(2533-2535)Tat>Cat	p.Y845H	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	845					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTGTGGAAATTATGTCAGCTT	0.453		NA	T	TRD@	ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		5	5q34	64901	RAN binding protein 17		L	0													275	261	266			NA	NA	5		NA											NA				170668042		2203	4300	6503	SO:0001583	missense			AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764	64901	64901			14428	protein-coding gene	gene with protein product		606141			NA	11024021	Standard	NM_022897	NM_022897	NA	Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.2533T>C	5.37:g.170668042T>C	ENSP00000427975:p.Tyr845His	NA		37	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.455417	0.84209	.	.	ENSG00000204764	ENST00000523189;ENST00000534916	T	0.63255	-0.03	5.43	5.43	0.79202	Armadillo-type fold (1);	0.000000	0.50627	D	0.000108	D	0.84092	0.5396	M	0.93808	3.46	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.88025	0.2771	10	0.59425	D	0.04	-9.9405	15.4819	0.75534	0.0:0.0:0.0:1.0	.	845;845	Q546R4;Q9H2T7	.;RBP17_HUMAN	H	845;275	ENSP00000427975:Y845H	ENSP00000427975:Y845H	Y	+	1	0	RANBP17	170600647	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.301000	0.72782	2.067000	0.61834	0.455000	0.32223	TAT	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372036.1		+	ENST00000523189.1	Missense_Mutation	SNP	5 : 170668042 - 170668042 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1346	283
LACRT	90070	broad.mit.edu	37	12	55028594	55028594	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55028594G>T	ENST00000257867.4	-	1	85	c.32C>A	c.(31-33)gCt>gAt	p.A11D	LACRT_ENST00000547511.1_Missense_Mutation_p.A11D	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin	11					calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						CCCTGCTACAGCTGCCAAGAA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	115	117			NA	NA	12		NA											NA				55028594		2203	4300	6503	SO:0001583	missense			AF238867	CCDS8883.1	12q13.2	2014-06-13			ENSG00000135413		90070	90070			16430	protein-coding gene	gene with protein product		607360			NA	11419941	Standard	NM_033277	NM_033277	NA	Approved	LACRITIN	uc001sgi.1	Q9GZZ8	OTTHUMG00000169936	ENST00000257867.4:c.32C>A	12.37:g.55028594G>T	ENSP00000257867:p.Ala11Asp	NA		37	CCDS8883.1	.	.	.	.	.	.	.	.	.	.	G	8.960	0.970247	0.18659	.	.	ENSG00000135413	ENST00000547511;ENST00000257867	.	.	.	3.84	2.95	0.34219	.	0.000000	0.32488	N	0.006040	T	0.39253	0.1071	N	0.19112	0.55	0.19945	N	0.999946	D	0.89917	1.0	D	0.79108	0.992	T	0.06844	-1.0804	9	0.87932	D	0	.	7.4512	0.27240	0.118:0.0:0.882:0.0	.	11	Q9GZZ8	LACRT_HUMAN	D	11	.	ENSP00000257867:A11D	A	-	2	0	LACRT	53314861	0.078000	0.21339	0.548000	0.28192	0.021000	0.10359	0.255000	0.18333	1.219000	0.43474	0.563000	0.77884	GCT	LACRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406615.1		-	ENST00000257867.4	Missense_Mutation	SNP	12 : 55028594 - 55028594 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	439	70
VPS13D	55187	broad.mit.edu	37	1	12416088	12416088	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12416088G>A	ENST00000358136.3	+	48	9942	c.9812G>A	c.(9811-9813)cGa>cAa	p.R3271Q	VPS13D_ENST00000356315.4_Missense_Mutation_p.R3246Q	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3270					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATTGTGTGTCGAGCAGAAGGA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	115	119			NA	NA	1		NA											NA				12416088		2203	4300	6503	SO:0001583	missense			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707	55187	55187			23595	protein-coding gene	gene with protein product		608877	vacuolar protein sorting 13D (yeast)		NA		Standard	NM_015378	NM_015378	NA	Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.9812G>A	1.37:g.12416088G>A	ENSP00000350854:p.Arg3271Gln	NA	Q58F10|Q6MZK9|Q6ZV12|Q709C4|Q709C5|Q86UB4|Q9NSJ3|Q9UIM0	37	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.150367|5.150367	0.94645|0.94645	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.53857	.|0.6;0.6	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.53174|0.53174	0.1780|0.1780	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	.|D;D	.|0.63880	.|0.993;0.993	.|P;P	.|0.49887	.|0.625;0.526	T|T	0.37820|0.37820	-0.9689|-0.9689	5|10	.|0.17369	.|T	.|0.5	.|.	20.2617|20.2617	0.98447|0.98447	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3246;3270	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	K|Q	2093|3246;3271	.|ENSP00000348666:R3246Q;ENSP00000350854:R3271Q	.|ENSP00000348666:R3246Q	E|R	+|+	1|2	0|0	VPS13D|VPS13D	12338675|12338675	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.991000|0.991000	0.79684|0.79684	7.604000|7.604000	0.82830|0.82830	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GAG|CGA	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000036897.2		+	ENST00000358136.3	Missense_Mutation	SNP	1 : 12416088 - 12416088 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	383	82
SDR16C5	195814	broad.mit.edu	37	8	57221490	57221490	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:57221490C>T	ENST00000522671.1	-	4	1293	c.562G>A	c.(562-564)Gca>Aca	p.A188T	SDR16C5_ENST00000303749.3_Missense_Mutation_p.A188T|SDR16C5_ENST00000396721.2_Missense_Mutation_p.A144T			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	188					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TTCTTACCTGCCAGCCCATTT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	96	99			NA	NA	8		NA											NA				57221490		2203	4300	6503	SO:0001583	missense				CCDS6167.1	8q12.1	2011-09-20			ENSG00000170786	ENSG00000170786	195814	195814	1.1.1.-	Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3	30311	protein-coding gene	gene with protein product		608989			NA	12372410	Standard	NM_138969	NM_138969	NA	Approved	RDHE2, RDH-E2	uc003xsy.1	Q8N3Y7	OTTHUMG00000164311	ENST00000522671.1:c.562G>A	8.37:g.57221490C>T	ENSP00000431010:p.Ala188Thr	NA	B4DGK2|Q330K3|Q8TDV9|Q96LX1	37		.	.	.	.	.	.	.	.	.	.	C	9.148	1.015572	0.19355	.	.	ENSG00000170786	ENST00000396721;ENST00000303749;ENST00000522671;ENST00000538514	D;D;D	0.90444	-2.67;-2.45;-2.45	5.79	3.76	0.43208	NAD(P)-binding domain (1);	0.168725	0.49916	D	0.000130	D	0.82582	0.5068	N	0.13168	0.305	0.53688	D	0.999973	B;B;B	0.27068	0.049;0.167;0.133	B;B;B	0.30943	0.074;0.053;0.122	T	0.77156	-0.2691	10	0.14252	T	0.57	.	16.4053	0.83662	0.3315:0.6685:0.0:0.0	.	144;188;188	Q8N3Y7-2;G3V145;Q8N3Y7	.;.;RDHE2_HUMAN	T	144;188;188;188	ENSP00000379947:A144T;ENSP00000307607:A188T;ENSP00000431010:A188T	ENSP00000307607:A188T	A	-	1	0	SDR16C5	57384044	0.988000	0.35896	0.923000	0.36655	0.134000	0.20937	2.656000	0.46716	1.387000	0.46486	0.655000	0.94253	GCA	SDR16C5-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000378236.1		-	ENST00000522671.1	Missense_Mutation	SNP	8 : 57221490 - 57221490 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	227	29
TENM4	26011	broad.mit.edu	37	11	78419498	78419498	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:78419498C>T	ENST00000278550.7	-	27	4579	c.4117G>A	c.(4117-4119)Gat>Aat	p.D1373N		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4	NA											NA						CCATTCTGATCGATGCGTCTG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	104	105			NA	NA	11		NA											NA				78419498		2064	4208	6272	SO:0001583	missense			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256	26011	26011			29945	protein-coding gene	gene with protein product		610084	odz, odd Oz/ten-m homolog 4 (Drosophila)	ODZ4	NA	12000766, 10625539	Standard		NM_001098816	NA	Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.4117G>A	11.37:g.78419498C>T	ENSP00000278550:p.Asp1373Asn	NA		37	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	36	5.652283	0.96724	.	.	ENSG00000149256	ENST00000278550	D	0.91996	-2.95	5.52	5.52	0.82312	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.96377	0.8818	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.95726	0.8770	9	.	.	.	.	19.6361	0.95733	0.0:1.0:0.0:0.0	.	1373	Q6N022	TEN4_HUMAN	N	1373	ENSP00000278550:D1373N	.	D	-	1	0	ODZ4	78097146	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.651000	0.83577	2.878000	0.98634	0.650000	0.86243	GAT	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391406.2		-	ENST00000278550.7	Missense_Mutation	SNP	11 : 78419498 - 78419498 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	186	28
SLC39A9	55334	broad.mit.edu	37	14	69922559	69922559	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:69922559G>T	ENST00000556605.1	+	6	1349	c.669G>T	c.(667-669)atG>atT	p.M223I	SLC39A9_ENST00000336643.5_Missense_Mutation_p.M223I|SLC39A9_ENST00000031146.4_Missense_Mutation_p.M157I|SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000557046.1_Missense_Mutation_p.M200I	NM_001252150.1	NP_001239079.1	Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	223					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		TTATGTCCATGGTGACATACT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	116	120			NA	NA	14		NA											NA				69922559		2203	4300	6503	SO:0001583	missense				CCDS9795.1, CCDS58327.1, CCDS58328.1	14q24.1	2013-07-17	2013-07-17			ENSG00000029364	55334	55334		Solute carriers	20182	protein-coding gene	gene with protein product					NA		Standard	NM_018375	NM_018375	NA	Approved	FLJ11274	uc001xle.3	Q9NUM3		ENST00000556605.1:c.669G>T	14.37:g.69922559G>T	ENSP00000452385:p.Met223Ile	NA	Q53HN3|Q5MJQ0|Q6P2Q1|Q86WY2	37	CCDS58327.1	.	.	.	.	.	.	.	.	.	.	G	9.114	1.007382	0.19199	.	.	ENSG00000029364	ENST00000556605;ENST00000336643;ENST00000557046	T;T;T	0.40756	1.02;1.02;1.02	5.19	5.19	0.71726	.	0.035383	0.85682	D	0.000000	T	0.13798	0.0334	N	0.00405	-1.535	0.80722	D	1	B;B;B	0.14438	0.001;0.01;0.003	B;B;B	0.10450	0.002;0.004;0.005	T	0.37776	-0.9691	10	0.02654	T	1	-17.3407	18.8944	0.92417	0.0:0.0:1.0:0.0	.	200;223;223	Q9NUM3-2;G3V5J8;Q9NUM3	.;.;S39A9_HUMAN	I	223;223;200	ENSP00000452385:M223I;ENSP00000336887:M223I;ENSP00000451833:M200I	ENSP00000031146:M223I	M	+	3	0	SLC39A9	68992312	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	7.674000	0.83992	2.696000	0.92011	0.467000	0.42956	ATG	SLC39A9-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412445.1		+	ENST00000556605.1	Missense_Mutation	SNP	14 : 69922559 - 69922559 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	552	105
ZNF568	374900	broad.mit.edu	37	19	37440779	37440779	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37440779C>T	ENST00000415168.1	+	5	908	c.532C>T	c.(532-534)Cga>Tga	p.R178*	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000333987.7_Nonsense_Mutation_p.R242*|ZNF568_ENST00000427117.1_Intron	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAGACATGAGCGAATTCATGC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	60	59			NA	NA	19		NA											NA				37440779		2100	4260	6360	SO:0001587	stop_gained			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453	374900	374900		Zinc fingers, C2H2-type, -	25392	protein-coding gene	gene with protein product					NA		Standard	NM_198539	NM_198539	NA	Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000415168.1:c.532C>T	19.37:g.37440779C>T	ENSP00000394514:p.Arg178*	NA	Q6N060|Q8NA64	37	CCDS56092.1	.	.	.	.	.	.	.	.	.	.	C	36	5.664843	0.96745	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	.	.	.	3.83	1.7	0.24286	.	0.190064	0.26075	N	0.026483	.	.	.	.	.	.	0.26320	N	0.977697	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.5379	0.07800	0.5614:0.2167:0.222:0.0	.	.	.	.	X	242;178	.	ENSP00000334685:R242X	R	+	1	2	ZNF568	42132619	0.000000	0.05858	0.028000	0.17463	0.950000	0.60333	-0.139000	0.10358	0.181000	0.19994	-0.271000	0.10264	CGA	ZNF568-005	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000338316.2		+	ENST00000415168.1	Nonsense_Mutation	SNP	19 : 37440779 - 37440779 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	383	76
MUC17	140453	broad.mit.edu	37	7	100663468	100663468	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100663468C>A	ENST00000306151.4	+	1	116	c.52C>A	c.(52-54)Ctc>Atc	p.L18I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	18						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					GGTCCTCTCGCTCTTGCCCCC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	75	86			NA	NA	7		NA											NA				100663468		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.52C>A	7.37:g.100663468C>A	ENSP00000302716:p.Leu18Ile	NA	O14761|Q685J2|Q8TDH7	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	6.236	0.411676	0.11812	.	.	ENSG00000169876	ENST00000306151	T	0.02837	4.14	2.12	2.12	0.27331	.	.	.	.	.	T	0.03477	0.0100	N	0.08118	0	0.09310	N	1	D	0.57571	0.98	P	0.56216	0.794	T	0.49925	-0.8887	9	0.87932	D	0	.	7.7734	0.29021	0.0:1.0:0.0:0.0	.	18	Q685J3	MUC17_HUMAN	I	18	ENSP00000302716:L18I	ENSP00000302716:L18I	L	+	1	0	MUC17	100450188	0.000000	0.05858	0.075000	0.20258	0.003000	0.03518	-0.141000	0.10327	1.511000	0.48818	0.407000	0.27541	CTC	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347161.1		+	ENST00000306151.4	Missense_Mutation	SNP	7 : 100663468 - 100663468 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	238	57
KRTAP5-6	440023	broad.mit.edu	37	11	1718682	1718682	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1718682C>A	ENST00000382160.1	+	1	258	c.207C>A	c.(205-207)ggC>ggA	p.G69G		NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6	69	6 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCAAAGGGGGCTGTGGCTCTT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	104	97			NA	NA	11		NA											NA				1718682		2202	4299	6501	SO:0001819	synonymous_variant			AB126075	CCDS31332.1	11p15.5	2008-02-05			ENSG00000205864	ENSG00000205864	440023	440023		Keratin associated proteins	23600	protein-coding gene	gene with protein product					NA	15144888	Standard		NM_001012416	NA	Approved	KRTAP5.6	uc001lua.3	Q6L8G9	OTTHUMG00000043932	ENST00000382160.1:c.207C>A	11.37:g.1718682C>A		NA	A1L452	37	CCDS31332.1																																																																																			KRTAP5-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000102339.2		+	ENST00000382160.1	Silent	SNP	11 : 1718682 - 1718682 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1464	141
FSCN3	29999	broad.mit.edu	37	7	127238595	127238595	+	Missense_Mutation	SNP	G	G	A	rs144391719	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127238595G>A	ENST00000265825.5	+	4	1286	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	FSCN3_ENST00000420086.2_Missense_Mutation_p.R222H	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	356						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TGCAGGGGGCGCTTCCTGGGC	0.582		NA											G	1	5e-04	NA	NA	2184	NA	0.9999	,	,	NA	2e-04	0.0013	NA	NA	4e-04	0.8499	LOWCOV,EXOME	NA	NA	7e-04	SNP								NA				0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	116	109	111		1067	5.9	1	7	dbSNP_134	111	0,8600		0,0,4300	yes	missense	FSCN3	NM_020369.2	29	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging	356/499	127238595	1,13005	2203	4300	6503	SO:0001583	missense				CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328	29999	29999		Fascins	3961	protein-coding gene	gene with protein product		615800	fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular), fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)		NA	11925108	Standard	NM_020369	NM_020369	NA	Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.1067G>A	7.37:g.127238595G>A	ENSP00000265825:p.Arg356His	NA	A4D0Z2|A6NLL7|B2RA62	37	CCDS34746.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.53	2.861201	0.51482	2.27E-4	0.0	ENSG00000106328	ENST00000265825;ENST00000420086	T;T	0.51574	1.39;0.7	5.94	5.94	0.96194	Fascin domain (1);Actin cross-linking (1);	0.000000	0.64402	D	0.000006	T	0.60051	0.2239	L	0.38531	1.155	0.38031	D	0.935151	B;D	0.89917	0.101;1.0	B;D	0.75484	0.026;0.986	T	0.63242	-0.6681	10	0.66056	D	0.02	-17.9026	15.8634	0.79043	0.0:0.0:1.0:0.0	.	222;356	B4DU68;Q9NQT6	.;FSCN3_HUMAN	H	356;222	ENSP00000265825:R356H;ENSP00000412243:R222H	ENSP00000265825:R356H	R	+	2	0	FSCN3	127025831	1.000000	0.71417	0.980000	0.43619	0.254000	0.26022	5.008000	0.63991	2.826000	0.97356	0.561000	0.74099	CGC	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059256.2		+	ENST00000265825.5	Missense_Mutation	SNP	7 : 127238595 - 127238595 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	937	160
ZNF672	79894	broad.mit.edu	37	1	249142057	249142057	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:249142057T>C	ENST00000306562.3	+	4	1330	c.584T>C	c.(583-585)gTc>gCc	p.V195A		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CGACCCCGTGTCTCAGACGCC	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													9	10	9			NA	NA	1		NA											NA				249142057		2198	4289	6487	SO:0001583	missense			AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161	79894	79894		Zinc fingers, C2H2-type	26179	protein-coding gene	gene with protein product	hypothetical protein FLJ22301				NA	12477932	Standard	NM_024836	NM_024836	NA	Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.584T>C	1.37:g.249142057T>C	ENSP00000421915:p.Val195Ala	NA	Q96H65|Q96IM3|Q9H6G5	37	CCDS1638.1	.	.	.	.	.	.	.	.	.	.	C	0.041	-1.285914	0.01387	.	.	ENSG00000171161	ENST00000306562	T	0.06933	3.24	2.62	0.449	0.16619	.	1.677950	0.04259	N	0.340137	T	0.04092	0.0114	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40608	-0.9554	9	.	.	.	.	2.3387	0.04254	0.208:0.4964:0.1752:0.1205	.	195	Q499Z4	ZN672_HUMAN	A	195	ENSP00000421915:V195A	.	V	+	2	0	ZNF672	247108680	.	.	0.001000	0.08648	0.001000	0.01503	.	.	-0.153000	0.11137	-1.096000	0.02151	GTC	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097125.2		+	ENST00000306562.3	Missense_Mutation	SNP	1 : 249142057 - 249142057 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	75	15
PLXNA1	5361	broad.mit.edu	37	3	126735821	126735821	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126735821C>A	ENST00000393409.2	+	16	3217	c.3217C>A	c.(3217-3219)Ctg>Atg	p.L1073M	PLXNA1_ENST00000251772.4_Missense_Mutation_p.L1050M	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1073	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AGGCACCAACCTGGCCACTGT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	63	64			NA	NA	3		NA											NA				126735821		2203	4300	6503	SO:0001583	missense			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554	5361	5361		Plexins	9099	protein-coding gene	gene with protein product		601055		PLXN1	NA	8570614	Standard	NM_032242	NM_032242	NA	Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3217C>A	3.37:g.126735821C>A	ENSP00000377061:p.Leu1073Met	NA		37	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	C	17.20	3.330291	0.60743	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	D;D	0.81499	-1.5;-1.5	4.08	3.21	0.36854	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000078	D	0.89663	0.6780	M	0.90870	3.155	0.46725	D	0.99917	D	0.89917	1.0	D	0.97110	1.0	D	0.88768	0.3262	10	0.87932	D	0	.	6.8375	0.23945	0.0:0.6852:0.1465:0.1683	.	1073	Q9UIW2	PLXA1_HUMAN	M	1073;1050	ENSP00000377061:L1073M;ENSP00000251772:L1050M	ENSP00000251772:L1050M	L	+	1	2	PLXNA1	128218511	0.996000	0.38824	1.000000	0.80357	0.824000	0.46624	1.916000	0.39986	0.935000	0.37341	0.491000	0.48974	CTG	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356451.1		+	ENST00000393409.2	Missense_Mutation	SNP	3 : 126735821 - 126735821 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	430	67
TRIM3	10612	broad.mit.edu	37	11	6479370	6479370	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6479370G>A	ENST00000525074.1	-	3	682	c.288C>T	c.(286-288)gcC>gcT	p.A96A	TRIM3_ENST00000359518.3_Silent_p.A96A|TRIM3_ENST00000345851.3_Silent_p.A96A|TRIM3_ENST00000536344.1_5'UTR|TRIM3_ENST00000537602.1_Silent_p.A96A	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	96					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCGGGTCGTGGGCCCCATCAG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(6;5 510 1540 25169 29084)							NA				0													44	47	46			NA	NA	11		NA											NA				6479370		2201	4296	6497	SO:0001819	synonymous_variant			AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171	10612	10612		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	10064	protein-coding gene	gene with protein product	ring finger protein 22, brain expressed ring finger, tripartite motif protein TRIM3	605493	tripartite motif-containing 3	RNF22	NA	10391919	Standard	NM_006458	NM_006458	NA	Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.288C>T	11.37:g.6479370G>A		NA	Q4V9L4|Q9C038|Q9C039	37	CCDS7764.1																																																																																			TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384224.2		-	ENST00000525074.1	Silent	SNP	11 : 6479370 - 6479370 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	514	85
KIF17	57576	broad.mit.edu	37	1	21042020	21042020	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21042020G>A	ENST00000247986.2	-	2	654	c.344C>T	c.(343-345)cCc>cTc	p.P115L	KIF17_ENST00000400463.3_Missense_Mutation_p.P115L|KIF17_ENST00000375044.1_Missense_Mutation_p.P15L			Q9P2E2	KIF17_HUMAN	kinesin family member 17	115	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GAAGGCCCTGGGGATGATGCC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	76	79			NA	NA	1		NA											NA				21042020		2203	4300	6503	SO:0001583	missense			AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245	57576	57576		Kinesins	19167	protein-coding gene	gene with protein product	kinesin-like protein KIF17, KIF3-related motor protein, KIF17 variant protein	605037			NA	10846156	Standard	NM_020816	XR_241202	NA	Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.344C>T	1.37:g.21042020G>A	ENSP00000247986:p.Pro115Leu	NA	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	37	CCDS213.1	.	.	.	.	.	.	.	.	.	.	G	32	5.142515	0.94560	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.74947	-0.89;-0.89;-0.89	4.75	4.75	0.60458	Kinesin, motor domain (4);	0.000000	0.32401	U	0.006150	D	0.89234	0.6657	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91885	0.5519	10	0.87932	D	0	.	16.4866	0.84185	0.0:0.0:1.0:0.0	.	115;115	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	L	15;115;115	ENSP00000364184:P15L;ENSP00000383311:P115L;ENSP00000247986:P115L	ENSP00000247986:P115L	P	-	2	0	KIF17	20914607	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.991000	0.93514	2.473000	0.83533	0.655000	0.94253	CCC	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276995.1		-	ENST00000247986.2	Missense_Mutation	SNP	1 : 21042020 - 21042020 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	515	57
COL16A1	1307	broad.mit.edu	37	1	32138370	32138370	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32138370T>C	ENST00000373672.3	-	45	3447	c.2931A>G	c.(2929-2931)ggA>ggG	p.G977G	COL16A1_ENST00000271069.6_Silent_p.G977G	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	977	Triple-helical region 3 (COL3).				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TGCCCTGGTCTCCCTTCTCTC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(143;498 1786 21362 25193 36625)							NA				0													73	81	78			NA	NA	1		NA											NA				32138370		1990	4161	6151	SO:0001819	synonymous_variant			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636	1307	1307		Collagens	2193	protein-coding gene	gene with protein product		120326			NA	1631157	Standard	NM_001856	NM_001856	NA	Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.2931A>G	1.37:g.32138370T>C		NA	Q16593|Q59F89|Q71RG9	37	CCDS41297.1																																																																																			COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000011057.2		-	ENST00000373672.3	Silent	SNP	1 : 32138370 - 32138370 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	345	21
USP4	7375	broad.mit.edu	37	3	49332010	49332010	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49332010G>A	ENST00000351842.4	-	13	1580	c.1572C>T	c.(1570-1572)tcC>tcT	p.S524S	USP4_ENST00000265560.4_Silent_p.S571S	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	571					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		AGCCATCCACGGAAGTGCTGC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	83	89			NA	NA	3		NA											NA				49332010		2203	4300	6503	SO:0001819	synonymous_variant			U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316	7375	7375		Ubiquitin-specific peptidases	12627	protein-coding gene	gene with protein product		603486	ubiquitin specific protease 4 (proto-oncogene)	UNP	NA	12838346, 9464533	Standard	NM_199443	NM_199443	NA	Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000351842.4:c.1572C>T	3.37:g.49332010G>A		NA	A8K6Y0|O43452|O43453|Q08AK8	37	CCDS2794.1	.	.	.	.	.	.	.	.	.	.	G	1.409	-0.575995	0.03882	.	.	ENSG00000114316	ENST00000431357	.	.	.	5.41	-2.14	0.07123	.	.	.	.	.	T	0.18759	0.0450	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.25779	-1.0122	4	.	.	.	-8.4843	1.608	0.02687	0.4586:0.119:0.2537:0.1686	.	.	.	.	C	310	.	.	R	-	1	0	USP4	49307014	0.000000	0.05858	0.000000	0.03702	0.291000	0.27294	-0.785000	0.04628	-0.258000	0.09446	0.650000	0.86243	CGT	USP4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346068.1		-	ENST00000351842.4	Silent	SNP	3 : 49332010 - 49332010 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	330	61
KCNMA1	3778	broad.mit.edu	37	10	78651348	78651348	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:78651348C>T	ENST00000286627.5	-	25	4055	c.3103G>A	c.(3103-3105)Gcc>Acc	p.A1035T	KCNMA1_ENST00000372440.1_Missense_Mutation_p.A1035T|KCNMA1_ENST00000406533.3_Missense_Mutation_p.A1097T|KCNMA1_ENST00000354353.5_Missense_Mutation_p.A1096T|KCNMA1_ENST00000286628.8_Missense_Mutation_p.A1093T|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000372443.1_Missense_Mutation_p.A1062T|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.A1093T|RP11-443A13.5_ENST00000429850.2_RNA|RP11-443A13.5_ENST00000609102.1_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.A1076T	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1093	Segment S10.				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TCCCTATTGGCCAGTGTCTGC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	44	44			NA	NA	10		NA											NA				78651348		2203	4300	6503	SO:0001583	missense			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113	3778	3778		Potassium channels, Voltage-gated ion channels / Potassium channels, calcium-activated	6284	protein-coding gene	gene with protein product	BK channel alpha subunit	600150		SLO	NA	7987297, 16382103	Standard	NM_002247	NM_002247	NA	Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286627.5:c.3103G>A	10.37:g.78651348C>T	ENSP00000286627:p.Ala1035Thr	NA	Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	37	CCDS7352.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	21.4|21.4|21.4	4.138016|4.138016|4.138016	0.77775|0.77775|0.77775	.|.|.	.|.|.	ENSG00000156113|ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372421;ENST00000434208|ENST00000372403	D;D;D;D;D;D;D;D;D|.|.	0.83992|.|.	-1.77;-1.79;-1.77;-1.78;-1.78;-1.77;-1.77;-1.78;-1.78|.|.	5.52|5.52|5.52	5.52|5.52|5.52	0.82312|0.82312|0.82312	.|.|.	0.050022|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.60287|0.60287|.	0.2257|0.2257|.	L|L|L	0.33485|0.33485|0.33485	1.01|1.01|1.01	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;B;B;P;P;B;P;B|.|.	0.76494|.|.	0.999;0.249;0.364;0.892;0.544;0.141;0.539;0.249|.|.	D;B;B;P;B;B;B;B|.|.	0.74674|.|.	0.984;0.119;0.17;0.642;0.17;0.067;0.343;0.082|.|.	T|T|.	0.53927|0.53927|.	-0.8369|-0.8369|.	10|5|.	0.72032|.|.	D|.|.	0.01|.|.	-13.11|-13.11|-13.11	19.4341|19.4341|19.4341	0.94783|0.94783|0.94783	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	1064;1065;1076;1093;1035;846;1096;1062|.|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7|.|.	.;.;.;KCMA1_HUMAN;.;.;.;.|.|.	T|D|X	1035;972;1028;1067;1030;1062;1035;1067;1097;1096;1076;846|1023;742|985	ENSP00000361517:A1035T;ENSP00000361485:A972T;ENSP00000361514:A1028T;ENSP00000396608:A1067T;ENSP00000361520:A1062T;ENSP00000286627:A1035T;ENSP00000385552:A1097T;ENSP00000346321:A1096T;ENSP00000385806:A1076T|.|.	ENSP00000286627:A1035T|.|.	A|G|W	-|-|-	1|2|3	0|0|0	KCNMA1|KCNMA1|KCNMA1	78321354|78321354|78321354	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.130000|0.130000|0.130000	0.20726|0.20726|0.20726	7.487000|7.487000|7.487000	0.81328|0.81328|0.81328	2.607000|2.607000|2.607000	0.88179|0.88179|0.88179	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	GCC|GGC|TGG	KCNMA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048877.3		-	ENST00000286627.5	Missense_Mutation	SNP	10 : 78651348 - 78651348 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	277	24
GPR149	344758	broad.mit.edu	37	3	154146651	154146651	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:154146651A>G	ENST00000389740.2	-	1	853	c.754T>C	c.(754-756)Tcc>Ccc	p.S252P		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	252						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCCTCTGGGGACAGGGAAACC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	37	36			NA	NA	3		NA											NA				154146651		1873	4110	5983	SO:0001583	missense			AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948	344758	344758		GPCR / Class A : Orphans	23627	protein-coding gene	gene with protein product					NA	12679517	Standard	XM_293580	NM_001038705	NA	Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.754T>C	3.37:g.154146651A>G	ENSP00000374390:p.Ser252Pro	NA		37	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	A	11.11	1.543435	0.27563	.	.	ENSG00000174948	ENST00000389740	T	0.38560	1.13	4.57	1.88	0.25563	GPCR, rhodopsin-like superfamily (1);	0.423870	0.28442	N	0.015327	T	0.25827	0.0629	L	0.31065	0.9	0.09310	N	1	B	0.15141	0.012	B	0.15052	0.012	T	0.14200	-1.0481	10	0.22706	T	0.39	-0.0054	7.4261	0.27100	0.782:0.0:0.0811:0.1369	.	252	Q86SP6	GP149_HUMAN	P	252	ENSP00000374390:S252P	ENSP00000374390:S252P	S	-	1	0	GPR149	155629345	0.000000	0.05858	0.053000	0.19242	0.025000	0.11179	0.099000	0.15210	0.736000	0.32559	0.533000	0.62120	TCC	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353430.1		-	ENST00000389740.2	Missense_Mutation	SNP	3 : 154146651 - 154146651 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	400	74
MAP4K2	5871	broad.mit.edu	37	11	64563851	64563851	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64563851G>A	ENST00000294066.2	-	24	1736	c.1645C>T	c.(1645-1647)Cac>Tac	p.H549Y	MAP4K2_ENST00000377350.3_Missense_Mutation_p.H541Y	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	549	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						GCCCAGATGTGCGTGGATTTC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	74	73			NA	NA	11		NA											NA				64563851		2201	4297	6498	SO:0001583	missense			BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067	5871	5871		Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases	6864	protein-coding gene	gene with protein product		603166		RAB8IP	NA	7515885	Standard	NM_004579	NM_004579	NA	Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.1645C>T	11.37:g.64563851G>A	ENSP00000294066:p.His549Tyr	NA		37	CCDS8082.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.191818	0.58017	.	.	ENSG00000168067	ENST00000294066;ENST00000377350	T;T	0.04706	3.57;3.57	4.31	4.31	0.51392	Citron-like (3);	0.292538	0.33712	N	0.004633	T	0.06554	0.0168	N	0.21194	0.64	0.37448	D	0.914713	P;D	0.53619	0.925;0.961	P;P	0.51701	0.53;0.677	T	0.51576	-0.8688	10	0.27785	T	0.31	.	12.1955	0.54294	0.0:0.0:1.0:0.0	.	541;549	Q86VU3;Q12851	.;M4K2_HUMAN	Y	549;541	ENSP00000294066:H549Y;ENSP00000366567:H541Y	ENSP00000294066:H549Y	H	-	1	0	MAP4K2	64320427	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.001000	0.63946	2.247000	0.74100	0.558000	0.71614	CAC	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000105239.1		-	ENST00000294066.2	Missense_Mutation	SNP	11 : 64563851 - 64563851 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	350	68
SYNE1	23345	broad.mit.edu	37	6	152652132	152652132	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152652132G>T	ENST00000367255.5	-	78	14289	c.13688C>A	c.(13687-13689)tCt>tAt	p.S4563Y	SYNE1_ENST00000448038.1_Missense_Mutation_p.S4492Y|SYNE1_ENST00000423061.1_Missense_Mutation_p.S4492Y|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Missense_Mutation_p.S4563Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4563					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATGCTTCCTAGAAACCAAATT	0.383		NA								HNSCC(10;0.0054)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	142	139			NA	NA	6		NA											NA				152652132		2203	4300	6503	SO:0001583	missense			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018	23345	23345			17089	protein-coding gene	gene with protein product	myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1	608441	chromosome 6 open reading frame 98	C6orf98	NA	9872452, 10878022	Standard	NM_182961	NM_182961	NA	Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.13688C>A	6.37:g.152652132G>T	ENSP00000356224:p.Ser4563Tyr	NA	O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289456	0.40494	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	6.03	5.15	0.70609	.	0.000000	0.64402	D	0.000007	T	0.49440	0.1557	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.76575	0.988;0.956;0.956;0.98	T	0.55522	-0.8128	10	0.62326	D	0.03	.	16.7427	0.85464	0.0:0.0:0.8697:0.1303	.	4563;4563;4563;4492	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	Y	4563;4492;4563;4492	ENSP00000356224:S4563Y;ENSP00000396024:S4492Y;ENSP00000265368:S4563Y;ENSP00000390975:S4492Y	ENSP00000265368:S4563Y	S	-	2	0	SYNE1	152693825	1.000000	0.71417	0.868000	0.34077	0.993000	0.82548	8.062000	0.89475	1.544000	0.49359	0.655000	0.94253	TCT	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334755.2		-	ENST00000367255.5	Missense_Mutation	SNP	6 : 152652132 - 152652132 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1003	190
IGDCC4	57722	broad.mit.edu	37	15	65688350	65688350	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65688350G>A	ENST00000352385.2	-	7	1358	c.1149C>T	c.(1147-1149)gtC>gtT	p.V383V		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	383	Ig-like C2-type 4.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CGCCGCCCTGGACCTTGACGC	0.731		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	10	10			NA	NA	15		NA											NA				65688350		2156	4238	6394	SO:0001819	synonymous_variant				CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742	57722	57722		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	13770	protein-coding gene	gene with protein product	likely ortholog of mouse neighbor of Punc E11				NA		Standard	NM_020962	NM_020962	NA	Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.1149C>T	15.37:g.65688350G>A		NA	Q9HCE4	37	CCDS10206.1																																																																																			IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256825.2		-	ENST00000352385.2	Silent	SNP	15 : 65688350 - 65688350 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	70	15
PCDH19	57526	broad.mit.edu	37	X	99661672	99661672	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:99661672C>T	ENST00000373034.4	-	1	3599	c.1924G>A	c.(1924-1926)Gtg>Atg	p.V642M	PCDH19_ENST00000420881.2_Missense_Mutation_p.V642M|PCDH19_ENST00000255531.7_Missense_Mutation_p.V642M	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	642	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TGAGCCACCACGATAAGCTCA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	62	61			NA	NA	X		NA											NA				99661672		2064	4196	6260	SO:0001583	missense			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194	57526	57526		Cadherins / Protocadherins : Non-clustered	14270	protein-coding gene	gene with protein product		300460	epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)	EFMR	NA	11549318, 18469813, 19752159	Standard	NM_020766	NM_020766	NA	Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1924G>A	X.37:g.99661672C>T	ENSP00000362125:p.Val642Met	NA	B0LDS4|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	37	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.631431	0.67015	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.70164	-0.46;-0.46;-0.46	5.84	5.84	0.93424	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.88385	0.6422	H	0.95950	3.745	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.994;0.997	D	0.91786	0.5439	10	0.87932	D	0	.	19.0738	0.93151	0.0:1.0:0.0:0.0	.	642;642;642	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	M	642	ENSP00000400327:V642M;ENSP00000362125:V642M;ENSP00000255531:V642M	ENSP00000255531:V642M	V	-	1	0	PCDH19	99548328	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.818000	0.86416	2.454000	0.82982	0.513000	0.50165	GTG	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057479.2		-	ENST00000373034.4	Missense_Mutation	SNP	X : 99661672 - 99661672 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	159	67
RINL	126432	broad.mit.edu	37	19	39360267	39360267	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39360267G>T	ENST00000591812.1	-	10	1506	c.1420C>A	c.(1420-1422)Ctg>Atg	p.L474M	RINL_ENST00000340740.3_Missense_Mutation_p.L360M|RINL_ENST00000598904.1_Missense_Mutation_p.L360M			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	360							GTPase activator activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						TCTACGTCCAGCTGCGTGTCC	0.607		NA									OREG0025454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	74	72			NA	NA	19		NA											NA				39360267		2203	4300	6503	SO:0001583	missense			AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994	126432	126432			24795	protein-coding gene	gene with protein product					NA		Standard	NM_198445	NM_001195833	NA	Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.1420C>A	19.37:g.39360267G>T	ENSP00000467107:p.Leu474Met	885		37	CCDS59386.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053794	0.55218	.	.	ENSG00000187994	ENST00000340740;ENST00000536520	T	0.33438	1.41	5.27	4.22	0.49857	Vacuolar sorting protein 9 (2);	0.176689	0.39407	N	0.001373	T	0.43478	0.1249	L	0.42686	1.345	0.33299	D	0.564609	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.53500	-0.8430	10	0.34782	T	0.22	-15.0535	10.0355	0.42127	0.0946:0.0:0.9054:0.0	.	474;360	B4DPG5;Q6ZS11	.;RINL_HUMAN	M	360	ENSP00000340369:L360M	ENSP00000340369:L360M	L	-	1	2	RINL	44052107	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	2.971000	0.49248	1.335000	0.45486	0.462000	0.41574	CTG	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460433.1		-	ENST00000591812.1	Missense_Mutation	SNP	19 : 39360267 - 39360267 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	510	87
MST1R	4486	broad.mit.edu	37	3	49929221	49929221	+	Nonsense_Mutation	SNP	G	G	A	rs150876558	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49929221G>A	ENST00000296474.3	-	15	3349	c.3322C>T	c.(3322-3324)Cga>Tga	p.R1108*	MST1R_ENST00000344206.4_Nonsense_Mutation_p.R1059*	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1108	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CATTGGATTCGATTCTGGGCC	0.532		NA												1	5e-04	NA	NA	2184	NA	1	,	,	NA	2e-04	0.0013	NA	NA	4e-04	0.95	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0								G	stop/ARG	1,4405		0,1,2202	243	211	222		3322	4.6	0.8	3	dbSNP_134	222	3,8597		0,3,4297	yes	stop-gained	MST1R	NM_002447.2		0,4,6499	AA,AG,GG	NA	0.0349,0.0227,0.0308		1108/1401	49929221	4,13002	2203	4300	6503	SO:0001587	stop_gained			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078	4486	4486		CD molecules	7381	protein-coding gene	gene with protein product		600168	PTK8 protein tyrosine kinase 8	RON, PTK8	NA	8386824	Standard		NM_002447	NA	Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.3322C>T	3.37:g.49929221G>A	ENSP00000296474:p.Arg1108*	NA	B5A944|B5A945|B5A946|B5A947	37	CCDS2807.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	38	7.213134	0.98139	2.27E-4	3.49E-4	ENSG00000164078	ENST00000296474;ENST00000344206	.	.	.	5.48	4.6	0.57074	.	0.783895	0.12392	N	0.472947	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	0.1745	4.2179	0.10544	0.0832:0.2301:0.5395:0.1471	.	.	.	.	X	1108;1059	.	ENSP00000296474:R1108X	R	-	1	2	MST1R	49904225	0.869000	0.29996	0.798000	0.32154	0.961000	0.63080	2.280000	0.43443	2.617000	0.88574	0.632000	0.83419	CGA	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345403.1		-	ENST00000296474.3	Nonsense_Mutation	SNP	3 : 49929221 - 49929221 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	980	191
DQX1	165545	broad.mit.edu	37	2	74751381	74751381	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74751381C>T	ENST00000404568.3	-	4	704	c.485G>A	c.(484-486)gGa>gAa	p.G162E	DQX1_ENST00000393951.2_Missense_Mutation_p.G162E|DQX1_ENST00000495597.1_5'UTR	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	162	Helicase ATP-binding.					nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GCCCCAGGCTCCAGTGCCTCG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	69	69			NA	NA	2		NA											NA				74751381		2203	4299	6502	SO:0001583	missense			AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045	165545	165545			20410	protein-coding gene	gene with protein product			DEAQ box polypeptide 1 (RNA-dependent ATPase)		NA		Standard	NM_133637	NM_133637	NA	Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.485G>A	2.37:g.74751381C>T	ENSP00000384621:p.Gly162Glu	NA	Q6B017|Q8NAM8	37	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	C	0.636	-0.815377	0.02776	.	.	ENSG00000144045	ENST00000393951;ENST00000404568;ENST00000451518	T;T;T	0.06068	4.82;4.82;3.35	4.59	4.59	0.56863	DEAD-like helicase (2);	0.144069	0.47093	D	0.000254	T	0.03390	0.0098	N	0.05383	-0.06	0.36377	D	0.861658	B	0.24618	0.107	B	0.22386	0.039	T	0.28396	-1.0045	10	0.06365	T	0.9	-15.8456	14.9166	0.70801	0.0:1.0:0.0:0.0	.	162	Q8TE96	DQX1_HUMAN	E	162;162;44	ENSP00000377523:G162E;ENSP00000384621:G162E;ENSP00000392969:G44E	ENSP00000377523:G162E	G	-	2	0	DQX1	74604889	0.994000	0.37717	1.000000	0.80357	0.600000	0.36913	2.215000	0.42862	2.374000	0.81015	0.609000	0.83330	GGA	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252230.3		-	ENST00000404568.3	Missense_Mutation	SNP	2 : 74751381 - 74751381 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	691	18
NOL6	65083	broad.mit.edu	37	9	33468868	33468868	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33468868G>A	ENST00000379471.2	-	8	1116	c.1029C>T	c.(1027-1029)ggC>ggT	p.G343G	NOL6_ENST00000464829.1_5'UTR|NOL6_ENST00000455041.2_Silent_p.G283G			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	343					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		ACCCACCCTGGCCCTGAAAGA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	129	127			NA	NA	9		NA											NA				33468868		2203	4300	6503	SO:0001819	synonymous_variant			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271	65083	65083			19910	protein-coding gene	gene with protein product		611532	nucleolar protein family 6 (RNA-associated)		NA	11895476, 15590835	Standard	NM_022917	NM_022917	NA	Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1029C>T	9.37:g.33468868G>A		NA	Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	37																																																																																				NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	NA	protein_coding	OTTHUMT00000001019.2		-	ENST00000379471.2	Silent	SNP	9 : 33468868 - 33468868 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1031	40
CLEC16A	23274	broad.mit.edu	37	16	11272254	11272254	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11272254G>A	ENST00000409790.1	+	24	3099	c.2869G>A	c.(2869-2871)Gaa>Aaa	p.E957K	CLEC16A_ENST00000381822.2_Missense_Mutation_p.E44K	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	957								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AATCGTCAACGAAACGGAAGC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)						G	LYS/GLU	1,4321		0,1,2160	108	123	118		2869	4.5	0	16		118	2,8506		0,2,4252	yes	missense	CLEC16A	NM_015226.2	56	0,3,6412	AA,AG,GG	NA	0.0235,0.0231,0.0234	probably-damaging	957/1054	11272254	3,12827	2161	4254	6415	SO:0001583	missense			AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532	23274	23274		C-type lectin domain containing	29013	protein-coding gene	gene with protein product		611303	KIAA0350	KIAA0350	NA	9205841, 17632545	Standard	NM_015226	NM_015226	NA	Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2869G>A	16.37:g.11272254G>A	ENSP00000387122:p.Glu957Lys	NA	O15058|Q6ZTB2	37	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541002	0.45280	2.31E-4	2.35E-4	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000381822	T	0.50813	0.73	4.49	4.49	0.54785	.	0.064355	0.64402	D	0.000014	T	0.61261	0.2333	L	0.46157	1.445	0.27050	N	0.963812	D;D	0.89917	1.0;0.992	D;D	0.79108	0.992;0.935	T	0.56360	-0.7992	10	0.62326	D	0.03	-4.7551	14.7192	0.69294	0.0:0.0:1.0:0.0	.	44;957	Q2KHT3-3;Q2KHT3	.;CL16A_HUMAN	K	957;957;44	ENSP00000387122:E957K	ENSP00000371244:E44K	E	+	1	0	CLEC16A	11179755	1.000000	0.71417	0.044000	0.18714	0.002000	0.02628	6.109000	0.71528	2.215000	0.71742	0.655000	0.94253	GAA	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328540.2		+	ENST00000409790.1	Missense_Mutation	SNP	16 : 11272254 - 11272254 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1043	201
CDAN1	146059	broad.mit.edu	37	15	43027821	43027821	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43027821G>A	ENST00000356231.3	-	4	853	c.830C>T	c.(829-831)tCg>tTg	p.S277L		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	277						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GGGGAGGGGCGACCCCAATTC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	41	40			NA	NA	15		NA											NA				43027821		2199	4284	6483	SO:0001583	missense			AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326	146059	146059			1713	protein-coding gene	gene with protein product		607465	congenital dyserythropoietic anemia, type I		NA	8634422, 12434312	Standard	XM_085300	XM_005254177	NA	Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.830C>T	15.37:g.43027821G>A	ENSP00000348564:p.Ser277Leu	NA	Q6NYD0|Q7Z7L5|Q969N3	37	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	G	9.259	1.042707	0.19748	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.87103	-2.21	5.68	2.26	0.28386	.	0.396178	0.30667	N	0.009131	T	0.68375	0.2994	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.53099	-0.8486	10	0.21540	T	0.41	-0.9898	4.8896	0.13721	0.0897:0.148:0.6104:0.152	.	277	Q8IWY9	CDAN1_HUMAN	L	277;275	ENSP00000348564:S277L	ENSP00000267892:S275L	S	-	2	0	CDAN1	40815113	0.004000	0.15560	0.367000	0.25926	0.071000	0.16799	0.710000	0.25748	0.727000	0.32360	0.561000	0.74099	TCG	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000431103.1		-	ENST00000356231.3	Missense_Mutation	SNP	15 : 43027821 - 43027821 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	367	76
KRTAP10-12	386685	broad.mit.edu	37	21	46117739	46117739	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46117739G>A	ENST00000400365.3	+	1	653	c.623G>A	c.(622-624)cGc>cAc	p.R208H	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	208	19 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(8)	9						CCCGCCCGCCGCGTGCCCGTC	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	68	63			NA	NA	21		NA											NA				46117739		2200	4294	6494	SO:0001583	missense			AB076364	CCDS42967.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000189169	ENSG00000189169	386685	386685		Keratin associated proteins	20533	protein-coding gene	gene with protein product			keratin associated protein 18-12	KRTAP18-12	NA		Standard	NM_198699	NM_198699	NA	Approved	KRTAP18.12, KAP10.12	uc002zfw.1	P60413	OTTHUMG00000057629	ENST00000400365.3:c.623G>A	21.37:g.46117739G>A	ENSP00000383216:p.Arg208His	NA	B2RPA3	37	CCDS42967.1	.	.	.	.	.	.	.	.	.	.	g	8.677	0.904269	0.17760	.	.	ENSG00000189169	ENST00000400365	T	0.00630	6.1	2.6	2.6	0.31112	.	.	.	.	.	T	0.00468	0.0015	N	0.08118	0	0.22500	N	0.999047	B	0.20550	0.046	B	0.04013	0.001	T	0.48068	-0.9067	9	0.59425	D	0.04	.	5.7084	0.17921	0.1658:0.0:0.8342:0.0	.	208	P60413	KR10C_HUMAN	H	208	ENSP00000383216:R208H	ENSP00000383216:R208H	R	+	2	0	KRTAP10-12	44942167	0.133000	0.22466	0.939000	0.37840	0.006000	0.05464	0.289000	0.18957	1.155000	0.42497	0.298000	0.19748	CGC	KRTAP10-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128032.1		+	ENST00000400365.3	Missense_Mutation	SNP	21 : 46117739 - 46117739 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	953	96
HPS5	11234	broad.mit.edu	37	11	18313060	18313060	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18313060G>A	ENST00000396253.3	-	15	2489	c.2027C>T	c.(2026-2028)gCg>gTg	p.A676V	HPS5_ENST00000349215.3_Missense_Mutation_p.A790V|HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000438420.2_Missense_Mutation_p.A676V	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	790						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ACTCTCCTTCGCTCTTTTCAA	0.398		NA							Hermansky-Pudlak syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA,VAL/ALA,VAL/ALA	4,4394	8.1+/-20.4	0,4,2195	67	64	65		2027,2369,2027	2.3	1	11		65	0,8586		0,0,4293	yes	missense,missense,missense	HPS5	NM_007216.3,NM_181507.1,NM_181508.1	64,64,64	0,4,6488	AA,AG,GG	NA	0.0,0.091,0.0308	benign,benign,benign	676/1016,790/1130,676/1016	18313060	4,12980	2199	4293	6492	SO:0001583	missense	Familial Cancer Database	HPS, HPS1-8	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756	11234	11234			17022	protein-coding gene	gene with protein product		607521			NA	10231032, 10094488	Standard	NM_181507	NM_181507	NA	Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000396253.3:c.2027C>T	11.37:g.18313060G>A	ENSP00000379552:p.Ala676Val	NA	A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	37	CCDS7837.1	.	.	.	.	.	.	.	.	.	.	G	1.114	-0.657429	0.03480	9.1E-4	0.0	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215	T;T;T	0.76709	-1.04;-1.04;-1.04	5.56	2.33	0.28932	.	0.299602	0.36303	N	0.002665	T	0.54351	0.1853	N	0.21142	0.635	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44360	-0.9333	10	0.02654	T	1	.	5.3766	0.16168	0.5457:0.0:0.4543:0.0	.	790	Q9UPZ3	HPS5_HUMAN	V	676;676;790	ENSP00000379552:A676V;ENSP00000399590:A676V;ENSP00000265967:A790V	ENSP00000265967:A790V	A	-	2	0	HPS5	18269636	1.000000	0.71417	1.000000	0.80357	0.485000	0.33311	4.151000	0.58105	0.723000	0.32274	-0.751000	0.03497	GCG	HPS5-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390807.2		-	ENST00000396253.3	Missense_Mutation	SNP	11 : 18313060 - 18313060 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	216	33
TUBA3D	113457	broad.mit.edu	37	2	132237733	132237733	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132237733G>A	ENST00000321253.6	+	4	574	c.467G>A	c.(466-468)cGg>cAg	p.R156Q	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	156					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CTCATGGAGCGGCTCTCAGTG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(137;2059 2432 35543 39401)							NA				0													75	84	80			NA	NA	2		NA											NA				132237733		2203	4300	6503	SO:0001583	missense			K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886	113457	113457		Tubulins	24071	protein-coding gene	gene with protein product	alpha-tubulin isotype H2-alpha				NA	3785200	Standard	NM_080386	NM_080386	NA	Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.467G>A	2.37:g.132237733G>A	ENSP00000326042:p.Arg156Gln	NA	A6NJQ0|Q5W099|Q6PEY3|Q96F18	37	CCDS33290.1	.	.	.	.	.	.	.	.	.	.	g	11.32	1.604006	0.28534	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	T	0.71341	-0.56	2.24	2.24	0.28232	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.46758	U	0.000277	T	0.64670	0.2619	M	0.78801	2.425	0.43740	D	0.996237	P	0.40332	0.713	B	0.31495	0.131	T	0.70949	-0.4733	10	0.87932	D	0	.	10.1507	0.42791	0.0:0.0:1.0:0.0	.	156	Q13748	TBA3C_HUMAN	Q	156	ENSP00000326042:R156Q	ENSP00000326042:R156Q	R	+	2	0	TUBA3D	131954203	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	8.151000	0.89636	1.243000	0.43853	0.194000	0.17425	CGG	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331800.2		+	ENST00000321253.6	Missense_Mutation	SNP	2 : 132237733 - 132237733 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	944	216
APC	324	broad.mit.edu	37	5	112154761	112154761	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112154761T>C	ENST00000457016.1	+	10	1412	c.1032T>C	c.(1030-1032)tgT>tgC	p.C344C	APC_ENST00000508376.2_Silent_p.C344C|APC_ENST00000257430.4_Silent_p.C344C			P25054	APC_HUMAN	adenomatous polyposis coli	344	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAGACAGCTGTATATCCATGC	0.443		12	D, Mis, N, F, S		colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS	colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		E, M, O	0													168	142	151			NA	NA	5		NA											NA				112154761		2202	4300	6502	SO:0001819	synonymous_variant	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982	324	324		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Armadillo repeat containing	583	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 46	611731	adenomatosis polyposis coli		NA	1651563	Standard	NM_000038	NM_001127511	NA	Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.1032T>C	5.37:g.112154761T>C		NA	D3DT03|Q15162|Q15163|Q93042	37	CCDS4107.1																																																																																			APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250738.2		+	ENST00000457016.1	Silent	SNP	5 : 112154761 - 112154761 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	592	123
ARHGAP5	394	broad.mit.edu	37	14	32562094	32562094	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:32562094A>C	ENST00000345122.3	+	2	2534	c.2219A>C	c.(2218-2220)aAa>aCa	p.K740T	ARHGAP5_ENST00000556611.1_Missense_Mutation_p.K740T|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.K740T|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.K740T|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	740					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TATCCTCGTAAATTTAATGAA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(9;77 350 3443 29227 41353)							NA				0													79	78	78			NA	NA	14		NA											NA				32562094		2202	4300	6502	SO:0001583	missense			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05					394	394		Rho GTPase activating proteins	675	protein-coding gene	gene with protein product		602680	growth factor independent 2	GFI2	NA	8537347	Standard	NM_001030055	XM_005267635	NA	Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.2219A>C	14.37:g.32562094A>C	ENSP00000371897:p.Lys740Thr	NA	A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	37	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	A	11.96	1.795819	0.31777	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.5	5.5	0.81552	.	0.041205	0.85682	D	0.000000	T	0.37892	0.1020	L	0.40543	1.245	0.80722	D	1	B;B	0.20550	0.046;0.027	B;B	0.25291	0.059;0.027	T	0.12372	-1.0550	10	0.33141	T	0.24	.	15.8997	0.79362	1.0:0.0:0.0:0.0	.	740;740	Q13017-2;Q13017	.;RHG05_HUMAN	T	740	ENSP00000452222:K740T;ENSP00000441692:K740T;ENSP00000371897:K740T;ENSP00000393307:K740T	ENSP00000371897:K740T	K	+	2	0	ARHGAP5	31631845	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.403000	0.79983	2.206000	0.71126	0.528000	0.53228	AAA	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409735.1		+	ENST00000345122.3	Missense_Mutation	SNP	14 : 32562094 - 32562094 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	578	123
ATP2A2	488	broad.mit.edu	37	12	110778497	110778497	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110778497C>T	ENST00000308664.6	+	14	2469	c.1795C>T	c.(1795-1797)Ctg>Ttg	p.L599L	ATP2A2_ENST00000539276.2_Silent_p.L599L|ATP2A2_ENST00000395494.2_Silent_p.L572L	NM_001681.3|NM_170665.3	NP_001672.1|NP_733765.1	P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	599					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CGTGGGCATGCTGGATCCTCC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	113	112			NA	NA	12		NA											NA				110778497		2203	4300	6503	SO:0001819	synonymous_variant				CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	488	488	3.6.3.8	ATPases / P-type	812	protein-coding gene	gene with protein product	sarcoplasmic/endoplasmic reticulum calcium ATPase 2, calcium pump 2	108740		ATP2B, DAR	NA	10080178	Standard	NM_001681	NM_170665	NA	Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000308664.6:c.1795C>T	12.37:g.110778497C>T		NA	A6NDN7|B4DF05|P16614|Q86VJ2	37	CCDS9143.1	.	.	.	.	.	.	.	.	.	.	C	7.323	0.617351	0.14129	.	.	ENSG00000174437	ENST00000548169	.	.	.	6.07	5.19	0.71726	.	.	.	.	.	T	0.71273	0.3320	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70666	-0.4809	4	.	.	.	.	15.4358	0.75146	0.0:0.9337:0.0:0.0663	.	.	.	.	V	489	.	.	A	+	2	0	ATP2A2	109262880	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	3.300000	0.51834	1.583000	0.49898	-0.140000	0.14226	GCT	ATP2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403537.1		+	ENST00000308664.6	Silent	SNP	12 : 110778497 - 110778497 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	936	189
LECT1	11061	broad.mit.edu	37	13	53282814	53282814	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53282814C>T	ENST00000448904.2	-	6	756	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	LECT1_ENST00000377962.3_Missense_Mutation_p.V216M	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	216					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		TTTCTTACCACTTCTCTTCTT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	154	157			NA	NA	13		NA											NA				53282814		2203	4300	6503	SO:0001583	missense			AB006000	CCDS9437.1, CCDS45051.1	13q14.3	2012-10-10			ENSG00000136110	ENSG00000136110	11061	11061		BRICHOS domain containing	17005	protein-coding gene	gene with protein product	BRICHOS domain containing 3	605147	multiple myeloma tumor suppressor 1	MYETS1	NA	9731231, 10103018	Standard		XM_006719760	NA	Approved	CHM-I, CHM1, chondromodulin, BRICD3	uc001vhf.2	O75829	OTTHUMG00000016980	ENST00000448904.2:c.646G>A	13.37:g.53282814C>T	ENSP00000388576:p.Val216Met	NA	Q5TAM4|Q8TAY6|Q9UM18	37	CCDS45051.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.465972	0.26335	.	.	ENSG00000136110	ENST00000448904;ENST00000377962	T;T	0.30448	1.53;1.53	5.06	2.1	0.27182	.	0.620299	0.17456	N	0.173615	T	0.12475	0.0303	N	0.08118	0	0.20196	N	0.999925	B;B	0.14012	0.004;0.009	B;B	0.08055	0.003;0.002	T	0.14783	-1.0460	10	0.42905	T	0.14	.	2.1607	0.03824	0.1872:0.4807:0.1188:0.2133	.	216;216	O75829-2;O75829	.;LECT1_HUMAN	M	216	ENSP00000388576:V216M;ENSP00000367198:V216M	ENSP00000367198:V216M	V	-	1	0	LECT1	52180815	0.013000	0.17824	0.943000	0.38184	0.997000	0.91878	-0.300000	0.08243	0.545000	0.28902	0.555000	0.69702	GTG	LECT1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393667.1		-	ENST00000448904.2	Missense_Mutation	SNP	13 : 53282814 - 53282814 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	718	90
FRMD3	257019	broad.mit.edu	37	9	85863059	85863059	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:85863059G>T	ENST00000304195.3	-	14	1774	c.1568C>A	c.(1567-1569)cCa>cAa	p.P523Q	FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000376434.1_Missense_Mutation_p.P329Q|FRMD3_ENST00000328788.1_Missense_Mutation_p.P180Q|FRMD3_ENST00000376438.1_Missense_Mutation_p.P523Q	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	523						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						CTTGACCAGTGGGTTCACCCG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	66	65			NA	NA	9		NA											NA				85863059		1951	4148	6099	SO:0001583	missense			AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159	257019	257019			24125	protein-coding gene	gene with protein product		607619			NA	12601556	Standard	NM_174938	NM_174938	NA	Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.1568C>A	9.37:g.85863059G>T	ENSP00000303508:p.Pro523Gln	NA	A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	37	CCDS43840.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.600036	0.28534	.	.	ENSG00000172159	ENST00000376438;ENST00000376434;ENST00000328788;ENST00000304195	D;D;T;D	0.85411	-1.57;-1.98;0.93;-1.57	5.69	4.74	0.60224	.	0.213391	0.47852	D	0.000220	T	0.80803	0.4693	L	0.44542	1.39	0.30744	N	0.745893	B;B;B	0.33583	0.112;0.078;0.418	B;B;B	0.36504	0.039;0.06;0.226	T	0.76402	-0.2972	10	0.20046	T	0.44	.	15.4669	0.75409	0.0:0.0:0.8608:0.1392	.	523;523;180	A2A2Y4;A2A2Y4-2;A2A2Y4-4	FRMD3_HUMAN;.;.	Q	523;329;180;523	ENSP00000365621:P523Q;ENSP00000365617:P329Q;ENSP00000328615:P180Q;ENSP00000303508:P523Q	ENSP00000303508:P523Q	P	-	2	0	FRMD3	85052879	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.125000	0.64715	2.699000	0.92147	0.655000	0.94253	CCA	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157355.1		-	ENST00000304195.3	Missense_Mutation	SNP	9 : 85863059 - 85863059 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	420	77
KY	339855	broad.mit.edu	37	3	134362215	134362215	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134362215A>G	ENST00000423778.2	-	3	266	c.205T>C	c.(205-207)Ttg>Ctg	p.L69L	KY_ENST00000508956.1_Intron|KY_ENST00000503669.1_Silent_p.L69L	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	69						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						TTCTCCACCAAGTTTTCTATT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	79	77			NA	NA	3		NA											NA				134362215		1948	4136	6084	SO:0001819	synonymous_variant			AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611	339855	339855			26576	protein-coding gene	gene with protein product		605739			NA		Standard	NM_178554	NM_178554	NA	Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.205T>C	3.37:g.134362215A>G		NA	B7Z1S4|Q6ZT15	37	CCDS46920.1																																																																																			KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357320.1		-	ENST00000423778.2	Silent	SNP	3 : 134362215 - 134362215 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	184	33
TRHDE	29953	broad.mit.edu	37	12	72771827	72771827	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72771827C>A	ENST00000261180.4	+	3	1202	c.1106C>A	c.(1105-1107)gCt>gAt	p.A369D		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	369					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GGGGACTATGCTCTCCATATA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	69	68			NA	NA	12		NA											NA				72771827		2203	4298	6501	SO:0001583	missense			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	29953	29953	3.4.19.6		30748	protein-coding gene	gene with protein product	pyroglutamyl-peptidase II, pyroglutamyl aminopeptidase II, TRH-specific aminopeptidase	606950			NA	10491199, 12975309	Standard	NM_013381	NM_013381	NA	Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1106C>A	12.37:g.72771827C>A	ENSP00000261180:p.Ala369Asp	NA	A5PL19|Q6UWJ4	37	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423237	0.83559	.	.	ENSG00000072657	ENST00000261180	T	0.03553	3.89	5.57	5.57	0.84162	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.30665	0.0772	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.44651	-0.9314	10	0.87932	D	0	.	19.5437	0.95283	0.0:1.0:0.0:0.0	.	369	Q9UKU6	TRHDE_HUMAN	D	369	ENSP00000261180:A369D	ENSP00000261180:A369D	A	+	2	0	TRHDE	71058094	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.303000	0.78871	2.645000	0.89757	0.585000	0.79938	GCT	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405380.1		+	ENST00000261180.4	Missense_Mutation	SNP	12 : 72771827 - 72771827 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	66
BMP1	649	broad.mit.edu	37	8	22037910	22037910	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22037910G>A	ENST00000306385.5	+	8	1661	c.991G>A	c.(991-993)Ggc>Agc	p.G331S	BMP1_ENST00000397816.3_Missense_Mutation_p.G331S|BMP1_ENST00000306349.8_Missense_Mutation_p.G331S|BMP1_ENST00000397814.3_Missense_Mutation_p.G331S|BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	331	CUB 1.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		AGACAGCACAGGCAACTTCTC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													233	206	215			NA	NA	8		NA											NA				22037910		2203	4300	6503	SO:0001583	missense				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	649	649	3.4.24.19	Bone morphogenetic proteins	1067	protein-coding gene	gene with protein product	procollagen C-endopeptidase	112264	procollagen C-endopeptidase	PCOLC	NA	2004778	Standard	NM_006132	NM_006129	NA	Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.991G>A	8.37:g.22037910G>A	ENSP00000305714:p.Gly331Ser	NA	A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	37	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	36	5.623558	0.96660	.	.	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349;ENST00000397814	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.66	5.66	0.87406	CUB (5);	0.000000	0.39146	U	0.001449	T	0.80675	0.4668	M	0.93939	3.475	0.80722	D	1	D;D;D;D	0.89917	0.979;1.0;1.0;0.999	D;D;D;D	0.97110	0.912;1.0;0.99;0.985	D	0.85208	0.1019	10	0.72032	D	0.01	.	18.5112	0.90917	0.0:0.0:1.0:0.0	.	331;404;331;331	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	S	331	ENSP00000305714:G331S;ENSP00000380917:G331S;ENSP00000306121:G331S;ENSP00000380915:G331S	ENSP00000306121:G331S	G	+	1	0	BMP1	22093855	1.000000	0.71417	0.985000	0.45067	0.963000	0.63663	9.809000	0.99208	2.665000	0.90641	0.561000	0.74099	GGC	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214995.2		+	ENST00000306385.5	Missense_Mutation	SNP	8 : 22037910 - 22037910 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1265	116
MYOZ2	51778	broad.mit.edu	37	4	120079184	120079184	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120079184T>G	ENST00000307128.5	+	4	467	c.254T>G	c.(253-255)aTt>aGt	p.I85S		NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN	myozenin 2	85							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CAGCACAGTATTGCTATGCAG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	115	116			NA	NA	4		NA											NA				120079184		2203	4300	6503	SO:0001583	missense			AF249873	CCDS3711.1	4q26-q27	2014-09-17	2002-01-07	2002-01-11	ENSG00000172399	ENSG00000172399	51778	51778			1330	protein-coding gene	gene with protein product		605602	chromosome 4 open reading frame 5	C4orf5	NA	8619474, 9110174	Standard		NM_016599	NA	Approved	CS-1	uc003icp.4	Q9NPC6	OTTHUMG00000132968	ENST00000307128.5:c.254T>G	4.37:g.120079184T>G	ENSP00000306997:p.Ile85Ser	NA	O43415|Q9HB92	37	CCDS3711.1	.	.	.	.	.	.	.	.	.	.	T	3.262	-0.150916	0.06585	.	.	ENSG00000172399	ENST00000307128	T	0.64438	-0.1	5.7	4.45	0.53987	.	1.093690	0.06764	N	0.782303	T	0.45836	0.1362	L	0.34521	1.04	0.09310	N	1	P	0.35872	0.525	B	0.31101	0.124	T	0.29912	-0.9996	10	0.09590	T	0.72	-2.3569	7.3584	0.26731	0.171:0.0:0.1213:0.7076	.	85	Q9NPC6	MYOZ2_HUMAN	S	85	ENSP00000306997:I85S	ENSP00000306997:I85S	I	+	2	0	MYOZ2	120298632	0.062000	0.20869	0.710000	0.30468	0.918000	0.54935	2.156000	0.42310	2.163000	0.67991	0.533000	0.62120	ATT	MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256526.2		+	ENST00000307128.5	Missense_Mutation	SNP	4 : 120079184 - 120079184 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	559	92
PNLIPRP3	119548	broad.mit.edu	37	10	118231349	118231349	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118231349T>C	ENST00000369230.3	+	10	1276	c.1130T>C	c.(1129-1131)gTa>gCa	p.V377A		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	377	PLAT.				lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TTTCTTCGTGTAGGCGGGGCA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	168	165			NA	NA	10		NA											NA				118231349		2203	4300	6503	SO:0001583	missense			BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	119548	119548	3.1.1.3		23492	protein-coding gene	gene with protein product					NA		Standard	XM_058404	NM_001011709	NA	Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.1130T>C	10.37:g.118231349T>C	ENSP00000358232:p.Val377Ala	NA		37	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.970902	0.53614	.	.	ENSG00000203837	ENST00000369230	T	0.72282	-0.64	4.18	4.18	0.49190	Lipoxygenase, LH2 (2);Lipase/lipooxygenase, PLAT/LH2 (1);	1.073260	0.07498	N	0.906784	T	0.70254	0.3203	L	0.51422	1.61	0.09310	N	1	B	0.33549	0.417	B	0.38296	0.27	T	0.62923	-0.6751	10	0.87932	D	0	.	11.2943	0.49269	0.0:0.0:0.0:1.0	.	377	Q17RR3	LIPR3_HUMAN	A	377	ENSP00000358232:V377A	ENSP00000358232:V377A	V	+	2	0	PNLIPRP3	118221339	0.028000	0.19301	0.038000	0.18304	0.022000	0.10575	3.283000	0.51701	1.848000	0.53677	0.482000	0.46254	GTA	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050520.1		+	ENST00000369230.3	Missense_Mutation	SNP	10 : 118231349 - 118231349 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	671	97
CLOCK	9575	broad.mit.edu	37	4	56348963	56348963	+	Translation_Start_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56348963G>A	ENST00000309964.4	-	0	240				CLOCK_ENST00000506923.1_5'UTR|CLOCK_ENST00000381322.1_De_novo_Start_InFrame|CLOCK_ENST00000513440.1_De_novo_Start_InFrame	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	NA					circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			AACATACTACGTTTTCGTCTT	0.284		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4404		0,0,2202	93	80	84			4.3	1	4		84	1,8593	1.2+/-3.3	0,1,4296	no	utr-5	CLOCK	NM_004898.2		0,1,6498	AA,AG,GG	NA	0.0116,0.0,0.0077			56348963	1,12997	2202	4297	6499					AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852	9575	9575		Chromatin-modifying enzymes / K-acetyltransferases, Basic helix-loop-helix proteins	2082	protein-coding gene	gene with protein product		601851	clock (mouse) homolog, clock homolog (mouse)		NA	10198158	Standard	NM_004898	NM_001267843	NA	Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:	4.37:g.56348963G>A		NA	A0AV01|A2I2N9|O14516|Q9UIT8	37	CCDS3500.1																																																																																			CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361993.2		-	ENST00000309964.4	De_novo_Start_InFrame	SNP	4 : 56348963 - 56348963 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	139	26
PHACTR2	9749	broad.mit.edu	37	6	144086760	144086760	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144086760C>A	ENST00000427704.2	+	6	1154	c.1024C>A	c.(1024-1026)Ctt>Att	p.L342I	PHACTR2_ENST00000367582.3_Missense_Mutation_p.L273I|PHACTR2_ENST00000367584.4_Missense_Mutation_p.L330I|PHACTR2_ENST00000440869.2_Missense_Mutation_p.L353I|PHACTR2_ENST00000305766.6_Missense_Mutation_p.L262I	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	342							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CCCTCTCCCTCTTGAGGATCA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)							NA				0													59	64	62			NA	NA	6		NA											NA				144086760		2016	4154	6170	SO:0001583	missense			AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419	9749	9749		Phosphatase and actin regulators	20956	protein-coding gene	gene with protein product		608724	chromosome 6 open reading frame 56	C6orf56	NA	9734811, 15107502	Standard	NM_014721	NM_001100164	NA	Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.1024C>A	6.37:g.144086760C>A	ENSP00000391763:p.Leu342Ile	NA	A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	37	CCDS47492.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.723102	0.30503	.	.	ENSG00000112419	ENST00000367584;ENST00000427704;ENST00000305766;ENST00000440869;ENST00000367582	T;T;T;T;T	0.33654	1.4;1.83;1.44;1.83;1.44	5.22	2.34	0.29019	.	1.943490	0.02138	N	0.056949	T	0.13200	0.0320	L	0.47716	1.5	0.09310	N	1	B;B;B;B	0.29766	0.256;0.019;0.019;0.011	B;B;B;B	0.32289	0.143;0.015;0.015;0.007	T	0.16808	-1.0390	10	0.16896	T	0.51	.	5.5824	0.17256	0.0:0.4751:0.291:0.2338	.	353;262;273;342	O75167-4;O75167-5;O75167-2;O75167	.;.;.;PHAR2_HUMAN	I	330;342;262;353;273	ENSP00000356556:L330I;ENSP00000391763:L342I;ENSP00000305530:L262I;ENSP00000417038:L353I;ENSP00000356554:L273I	ENSP00000305530:L262I	L	+	1	0	PHACTR2	144128453	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.023000	0.13533	0.549000	0.28973	0.655000	0.94253	CTT	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042528.2		+	ENST00000427704.2	Missense_Mutation	SNP	6 : 144086760 - 144086760 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	434	82
SCRN1	9805	broad.mit.edu	37	7	29983622	29983622	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:29983622C>T	ENST00000426154.1	-	4	691	c.515G>A	c.(514-516)gGg>gAg	p.G172E	SCRN1_ENST00000434476.2_Missense_Mutation_p.G192E|SCRN1_ENST00000409497.1_Missense_Mutation_p.G172E|SCRN1_ENST00000416113.2_Missense_Mutation_p.G63E|SCRN1_ENST00000242059.5_Missense_Mutation_p.G172E|SCRN1_ENST00000425819.2_Missense_Mutation_p.G104E	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	172					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						CCAGTACTTCCCTATGGTCTC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	132	141			NA	NA	7		NA											NA				29983622		2203	4300	6503	SO:0001583	missense			D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193	9805	9805			22192	protein-coding gene	gene with protein product		614965			NA	12221138	Standard	NM_014766	NM_014766	NA	Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.515G>A	7.37:g.29983622C>T	ENSP00000409068:p.Gly172Glu	NA	A8K0E9|Q25QX7|Q8IWD1	37	CCDS5422.1	.	.	.	.	.	.	.	.	.	.	C	33	5.199317	0.94997	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000425819;ENST00000409497;ENST00000416113;ENST00000434476;ENST00000421434	T;T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;2.28;-0.11;-0.11	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000001	D	0.86477	0.5942	H	0.96430	3.82	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.90095	0.4180	9	.	.	.	-16.4932	18.6916	0.91585	0.0:1.0:0.0:0.0	.	192;104;172	C9JPG0;B4DIP5;Q12765	.;.;SCRN1_HUMAN	E	172;172;104;172;63;192;172	ENSP00000242059:G172E;ENSP00000409068:G172E;ENSP00000414245:G104E;ENSP00000386872:G172E;ENSP00000407460:G63E;ENSP00000388942:G192E;ENSP00000413184:G172E	.	G	-	2	0	SCRN1	29950147	1.000000	0.71417	0.994000	0.49952	0.868000	0.49771	7.818000	0.86416	2.768000	0.95171	0.561000	0.74099	GGG	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214231.2		-	ENST00000426154.1	Missense_Mutation	SNP	7 : 29983622 - 29983622 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	481	102
C17orf70	80233	broad.mit.edu	37	17	79512857	79512857	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79512857G>A	ENST00000327787.8	-	6	2271	c.2225C>T	c.(2224-2226)gCt>gTt	p.A742V	C17orf70_ENST00000537152.1_Missense_Mutation_p.A591V|C17orf70_ENST00000425898.2_Missense_Mutation_p.A391V			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	742					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GACGTCCACAGCAGCATTCTC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	38	43			NA	NA	17		NA											NA				79512857		2201	4300	6501	SO:0001583	missense			BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504	80233	80233			26171	protein-coding gene	gene with protein product	Fanconi anemia-associated protein, 100kDa	611301			NA	17396147	Standard	NM_025161	NM_025161	NA	Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.2225C>T	17.37:g.79512857G>A	ENSP00000333283:p.Ala742Val	NA	A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	37	CCDS32765.2	.	.	.	.	.	.	.	.	.	.	G	9.031	0.987306	0.18889	.	.	ENSG00000185504	ENST00000327787;ENST00000425898;ENST00000361039;ENST00000537152	T;T;T	0.33865	1.39;1.39;1.39	4.56	0.971	0.19698	.	0.342070	0.24379	N	0.039031	T	0.25827	0.0629	L	0.57536	1.79	0.09310	N	1	P;P	0.36909	0.573;0.573	B;B	0.32677	0.107;0.15	T	0.19976	-1.0289	10	0.59425	D	0.04	.	2.7171	0.05190	0.4037:0.0:0.3887:0.2076	.	742;391	Q0VG06;E7EVV8	FP100_HUMAN;.	V	742;391;115;591	ENSP00000333283:A742V;ENSP00000399674:A391V;ENSP00000440151:A591V	ENSP00000333283:A742V	A	-	2	0	C17orf70	77123310	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.346000	0.07760	0.369000	0.24510	0.561000	0.74099	GCT	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396170.1		-	ENST00000327787.8	Missense_Mutation	SNP	17 : 79512857 - 79512857 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	204	24
RNF220	55182	broad.mit.edu	37	1	45111149	45111149	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45111149C>T	ENST00000355387.2	+	12	1884	c.1434C>T	c.(1432-1434)agC>agT	p.S478S	TMEM53_ENST00000372244.3_Intron|RNF220_ENST00000361799.2_Silent_p.S478S|RNF220_ENST00000372247.2_Silent_p.S478S|RNF220_ENST00000443020.2_Silent_p.S265S|TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000372243.3_Intron|RNF220_ENST00000480686.1_3'UTR			Q5VTB9	RN220_HUMAN	ring finger protein 220	478					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						GCAAGAACAGCGACATCGAGA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	95	100			NA	NA	1		NA											NA				45111149		2203	4300	6503	SO:0001819	synonymous_variant			AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147	55182	55182		RING-type (C3HC4) zinc fingers	25552	protein-coding gene	gene with protein product			chromosome 1 open reading frame 164	C1orf164	NA	11042152	Standard	NM_018150	NM_018150	NA	Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.1434C>T	1.37:g.45111149C>T		NA	B3KPJ3|Q4KMX2|Q9NVP6	37	CCDS510.1																																																																																			RNF220-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000020683.4		+	ENST00000355387.2	Silent	SNP	1 : 45111149 - 45111149 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	184	22
DAGLB	221955	broad.mit.edu	37	7	6452623	6452623	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6452623G>A	ENST00000425398.2	-	10	1174	c.1083C>T	c.(1081-1083)ctC>ctT	p.L361L	DAGLB_ENST00000421761.2_3'UTR|DAGLB_ENST00000436575.1_Silent_p.L449L|DAGLB_ENST00000297056.6_Silent_p.L490L|DAGLB_ENST00000428902.2_Missense_Mutation_p.R350C	NM_001142936.1	NP_001136408.1	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	490					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		TCCCCAGGACGAGTGACACGA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	59	60			NA	NA	7		NA											NA				6452623		2203	4300	6503	SO:0001819	synonymous_variant			AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	221955	221955	3.1.1.-		28923	protein-coding gene	gene with protein product		614016			NA		Standard	NM_139179	NM_139179	NA	Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000425398.2:c.1083C>T	7.37:g.6452623G>A		NA	A4D2P3|B3KV90|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	37	CCDS47536.1	.	.	.	.	.	.	.	.	.	.	G	4.795	0.147856	0.09134	.	.	ENSG00000164535	ENST00000428902	.	.	.	5.52	-10.3	0.00346	.	.	.	.	.	T	0.39655	0.1086	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.54569	-0.8274	5	0.45353	T	0.12	-12.9094	1.8816	0.03229	0.3096:0.1713:0.3495:0.1696	.	.	.	.	C	350	.	ENSP00000416046:R350C	R	-	1	0	DAGLB	6419148	0.010000	0.17322	0.002000	0.10522	0.011000	0.07611	-0.855000	0.04295	-1.904000	0.01092	-2.120000	0.00349	CGT	DAGLB-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341922.1		-	ENST00000425398.2	Silent	SNP	7 : 6452623 - 6452623 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	157	23
ELP3	55140	broad.mit.edu	37	8	27987089	27987089	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27987089C>T	ENST00000256398.8	+	8	1065	c.688C>T	c.(688-690)Cga>Tga	p.R230*	ELP3_ENST00000380353.4_Nonsense_Mutation_p.R138*|ELP3_ENST00000537665.1_Nonsense_Mutation_p.R111*|ELP3_ENST00000524103.1_Nonsense_Mutation_p.R158*|ELP3_ENST00000542181.1_Nonsense_Mutation_p.R101*|ELP3_ENST00000521015.1_Nonsense_Mutation_p.R216*	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	230					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		CTGCATGAAGCGACATTTAAG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													204	192	196			NA	NA	8		NA											NA				27987089		2203	4300	6503	SO:0001587	stop_gained				CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1	8p21.1	2012-08-14	2012-08-08		ENSG00000134014	ENSG00000134014	55140	55140		Chromatin-modifying enzymes / K-acetyltransferases, Elongator acetyltransferase complex subunits	20696	protein-coding gene	gene with protein product		612722	elongation protein 3 homolog (S. cerevisiae)		NA	11714725	Standard	NM_018091	NM_018091	NA	Approved	FLJ10422, KAT9	uc003xgo.4	Q9H9T3	OTTHUMG00000102124	ENST00000256398.8:c.688C>T	8.37:g.27987089C>T	ENSP00000256398:p.Arg230*	NA	Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1	37	CCDS6065.1	.	.	.	.	.	.	.	.	.	.	C	31	5.072355	0.93950	.	.	ENSG00000134014	ENST00000521015;ENST00000256398;ENST00000542181;ENST00000524103;ENST00000537665;ENST00000380353	.	.	.	4.53	2.53	0.30540	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-5.7133	11.0472	0.47865	0.3306:0.6694:0.0:0.0	.	.	.	.	X	216;230;101;158;111;138	.	ENSP00000256398:R230X	R	+	1	2	ELP3	28043008	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.607000	0.36836	1.213000	0.43380	0.655000	0.94253	CGA	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219963.2		+	ENST00000256398.8	Nonsense_Mutation	SNP	8 : 27987089 - 27987089 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	716	155
LRCH1	23143	broad.mit.edu	37	13	47297373	47297373	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:47297373A>C	ENST00000389797.3	+	17	1914	c.1777A>C	c.(1777-1779)Aga>Cga	p.R593R	LRCH1_ENST00000389798.3_Silent_p.R558R|LRCH1_ENST00000311191.6_Silent_p.R558R	NM_001164211.1	NP_001157683	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	558	CH.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		AAGACCTCAGAGAAATTTGGA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	85	84			NA	NA	13		NA											NA				47297373		2203	4300	6503	SO:0001819	synonymous_variant			AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141	23143	23143			20309	protein-coding gene	gene with protein product		610368	calponin homology (CH) domain containing 1	CHDC1	NA	10231032	Standard	NM_015116	NM_015116	NA	Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389797.3:c.1777A>C	13.37:g.47297373A>C		NA	Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	37	CCDS53865.1																																																																																			LRCH1-004	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354618.1		+	ENST00000389797.3	Silent	SNP	13 : 47297373 - 47297373 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	318	37
MLH1	4292	broad.mit.edu	37	3	37053334	37053334	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:37053334T>C	ENST00000458205.2	+	0	713				MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000435176.1_Missense_Mutation_p.I92T|MLH1_ENST00000231790.2_Missense_Mutation_p.I190T|MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000536378.1_5'UTR	NM_001258274.1	NP_001245203.1	P40692	MLH1_HUMAN	mutL homolog 1	NA					mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						AATGCAGGCATTAGTTTCTCA	0.343		1	D, Mis, N, F, S		colorectal, endometrial, ovarian, CNS	colorectal, endometrial, ovarian, CNS		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Hereditary non-polyposis colorectal cancer, Turcot syndrome	3	3p21.3	4292	E.coli MutL homolog gene		E, O	1	Whole gene deletion(1)	ovary(1)											194	208	204			NA	NA	3		NA											NA				37053334		2203	4300	6503	SO:0001623	5_prime_UTR_variant	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242	4292	4292			7127	protein-coding gene	gene with protein product		120436	mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2), mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	COCA2	NA	7903889	Standard	NM_000249	NM_000249	NA	Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000458205.2:c.-155T>C	3.37:g.37053334T>C		NA		37	CCDS54563.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.580974	0.46006	.	.	ENSG00000076242	ENST00000231790;ENST00000436867;ENST00000537937;ENST00000383761;ENST00000435176	D;D	0.90620	-2.7;-2.7	5.92	5.92	0.95590	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (2);	0.118924	0.64402	D	0.000017	D	0.90549	0.7038	M	0.76170	2.325	0.80722	D	1	B;B;B	0.12630	0.003;0.006;0.006	B;B;B	0.17098	0.011;0.011;0.017	D	0.87158	0.2213	10	0.46703	T	0.11	-19.4156	16.3662	0.83325	0.0:0.0:0.0:1.0	.	92;190;190	E9PCU2;Q53GX1;P40692	.;.;MLH1_HUMAN	T	190;156;156;54;92	ENSP00000231790:I190T;ENSP00000402564:I92T	ENSP00000231790:I190T	I	+	2	0	MLH1	37028338	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	5.294000	0.65687	2.274000	0.75844	0.533000	0.62120	ATT	MLH1-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341984.3		+	ENST00000458205.2	5'UTR	SNP	3 : 37053334 - 37053334 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1010	267
HLA-A	3105	broad.mit.edu	37	6	29911116	29911116	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29911116C>A	ENST00000396634.1	+	5	756	c.415C>A	c.(415-417)Cag>Aag	p.Q139K	HLA-A_ENST00000376809.5_Missense_Mutation_p.Q139K|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q139K|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q139K			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	139	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CGGGTACCGGCAGGACGCCTA	0.657		NA							Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	26	29			NA	NA	6		NA											NA				29911116		1493	2698	4191	SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503	3105	3105		Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing	4931	protein-coding gene	gene with protein product		142800			NA	8838351	Standard	NM_002116	NM_001242758	NA	Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.415C>A	6.37:g.29911116C>A	ENSP00000379873:p.Gln139Lys	NA	O77964|O78171|Q9MYA3|Q9TP25|Q9TQP5	37	CCDS34373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|.	9.615|9.615	1.132263|1.132263	0.21041|0.21041	.|.	.|.	ENSG00000206503|ENSG00000206503	ENST00000355767|ENST00000396634;ENST00000376806;ENST00000376809;ENST00000376802	.|T;T;T;T	.|0.00015	.|9.17;9.17;9.17;9.17	3.78|3.78	1.86|1.86	0.25419|0.25419	.|MHC class I, alpha chain, alpha1/alpha2 (8);MHC classes I/II-like antigen recognition protein (4);MHC class I-like antigen recognition (4);	.|0.000000	.|0.34200	.|U	.|0.004173	.|T	.|0.00241	.|0.0007	H|H	0.98238|0.98238	4.18|4.18	0.09310|0.09310	N|N	1|1	.|P;D;P;D;P;D;D	.|0.61697	.|0.641;0.99;0.953;0.989;0.953;0.982;0.989	.|B;D;D;D;D;D;D	.|0.80764	.|0.413;0.994;0.965;0.987;0.965;0.987;0.987	.|T	.|0.25222	.|-1.0138	.|10	.|0.87932	.|D	.|0	.|.	8.0676|8.0676	0.30669|0.30669	0.1792:0.6472:0.1736:0.0|0.1792:0.6472:0.1736:0.0	.|.	.|18;139;139;139;139;139;139	.|B4DVB9;P13746;Q5SRN7;P16188;Q5SRN5;P30455;P04439	.|.;1A11_HUMAN;.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	.|K	-1|139	.|ENSP00000379873:Q139K;ENSP00000366002:Q139K;ENSP00000366005:Q139K;ENSP00000365998:Q139K	.|ENSP00000365998:Q139K	.|Q	+|+	.|1	.|0	HLA-A|HLA-A	30019095|30019095	0.054000|0.054000	0.20591|0.20591	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	1.909000|1.909000	0.39917|0.39917	0.327000|0.327000	0.23409|0.23409	0.485000|0.485000	0.47835|0.47835	.|CAG	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252909.1		+	ENST00000396634.1	Missense_Mutation	SNP	6 : 29911116 - 29911116 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	218	45
TULP1	7287	broad.mit.edu	37	6	35466170	35466170	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35466170C>T	ENST00000229771.6	-	15	1642	c.1563G>A	c.(1561-1563)ccG>ccA	p.P521P	TULP1_ENST00000322263.4_Silent_p.P468P	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	521					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GGGCGCACAGCGGGTACCGGT	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(55;1027 1091 11115 23439)							NA				0													45	45	45			NA	NA	6		NA											NA				35466170		2203	4300	6503	SO:0001819	synonymous_variant			U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041	7287	7287			12423	protein-coding gene	gene with protein product		602280		RP14	NA	9096357, 9521870	Standard		NM_003322	NA	Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.1563G>A	6.37:g.35466170C>T		NA	O43536|Q5TGM5|Q8N571	37	CCDS4807.1																																																																																			TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040307.2		-	ENST00000229771.6	Silent	SNP	6 : 35466170 - 35466170 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	185	37
DDX42	11325	broad.mit.edu	37	17	61890627	61890627	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61890627A>C	ENST00000578681.1	+	16	2316	c.1715A>C	c.(1714-1716)aAc>aCc	p.N572T	DDX42_ENST00000457800.2_Missense_Mutation_p.N572T|DDX42_ENST00000359353.5_Missense_Mutation_p.N453T|DDX42_ENST00000389924.2_Missense_Mutation_p.N572T|DDX42_ENST00000583590.1_Missense_Mutation_p.N572T	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	572	Helicase C-terminal.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						ACTGTCATTAACTATGATGTG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	81	85			NA	NA	17		NA											NA				61890627		2203	4300	6503	SO:0001583	missense			BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231	11325	11325		DEAD-boxes	18676	protein-coding gene	gene with protein product	splicing factor 3b, subunit 8	613369	DEAD (Asp-Glu-Ala-Asp) box polypeptide 42		NA	10727850, 16397294	Standard	NM_007372	NM_007372	NA	Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.1715A>C	17.37:g.61890627A>C	ENSP00000464050:p.Asn572Thr	NA	A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	37	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.840372	0.91117	.	.	ENSG00000198231	ENST00000389924;ENST00000457800;ENST00000359353	T;T	0.05580	3.42;3.42	5.52	5.52	0.82312	Helicase, C-terminal (3);	0.039730	0.85682	D	0.000000	T	0.35158	0.0922	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.47368	-0.9123	10	0.87932	D	0	-21.2105	15.1322	0.72533	1.0:0.0:0.0:0.0	.	118;572	B3KV84;Q86XP3	.;DDX42_HUMAN	T	572;572;308	ENSP00000374574:N572T;ENSP00000390121:N572T	ENSP00000352308:N308T	N	+	2	0	DDX42	59244359	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.253000	0.95501	2.230000	0.72887	0.528000	0.53228	AAC	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444368.1		+	ENST00000578681.1	Missense_Mutation	SNP	17 : 61890627 - 61890627 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	67
C20orf26	0	broad.mit.edu	37	20	20180434	20180434	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20180434C>A	ENST00000245957.5	+	17	1896	c.1820C>A	c.(1819-1821)tCc>tAc	p.S607Y	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		607										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TACGCCCACTCCCTGACATCT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	131	136			NA	NA	20		NA											NA				20180434		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000245957.5:c.1820C>A	20.37:g.20180434C>A	ENSP00000245957:p.Ser607Tyr	NA	A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	37	CCDS33447.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.66|17.66	3.445253|3.445253	0.63178|0.63178	.|.	.|.	ENSG00000089101|ENSG00000089101	ENST00000431753|ENST00000343997;ENST00000339482;ENST00000389655;ENST00000245957	.|T	.|0.48522	.|0.81	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.210965	.|0.42420	.|D	.|0.000702	T|T	0.68412|0.68412	0.2998|0.2998	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.76575	.|0.988;0.974	T|T	0.64015|0.64015	-0.6506|-0.6506	5|10	.|0.29301	.|T	.|0.29	.|.	19.4135|19.4135	0.94685|0.94685	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|587;607	.|F8W6K4;Q8NHU2	.|.;CT026_HUMAN	T|Y	147|547;175;587;607	.|ENSP00000245957:S607Y	.|ENSP00000245957:S607Y	P|S	+|+	1|2	0|0	C20orf26|C20orf26	20128434|20128434	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	3.428000|3.428000	0.52792|0.52792	2.584000|2.584000	0.87258|0.87258	0.563000|0.563000	0.77884|0.77884	CCC|TCC	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078228.3		+	ENST00000245957.5	Missense_Mutation	SNP	20 : 20180434 - 20180434 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	728	168
PCNT	5116	broad.mit.edu	37	21	47769729	47769729	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47769729C>A	ENST00000359568.5	+	8	1446	c.1339C>A	c.(1339-1341)Ctg>Atg	p.L447M	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	447	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGAAAAACAGCTGGAGGTGGG	0.418		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	21		NA											NA				47769729		2203	4300	6503	SO:0001583	missense			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299	5116	5116			16068	protein-coding gene	gene with protein product	kendrin, Seckel syndrome 4	605925	pericentrin 2 (kendrin)	PCNT2	NA	8812505, 9455477	Standard	NM_006031	NM_006031	NA	Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.1339C>A	21.37:g.47769729C>A	ENSP00000352572:p.Leu447Met	NA	O43152|Q7Z7C9	37	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.748161	0.30955	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.27256	1.68	3.98	3.08	0.35506	.	1.083490	0.07525	N	0.911145	T	0.38585	0.1046	L	0.42245	1.32	0.09310	N	0.999999	D;D	0.71674	0.998;0.997	D;D	0.70935	0.971;0.936	T	0.18147	-1.0346	10	0.48119	T	0.1	.	4.6375	0.12531	0.2353:0.6496:0.0:0.1151	.	329;447	O95613-2;O95613	.;PCNT_HUMAN	M	447;434	ENSP00000352572:L447M	ENSP00000338675:L434M	L	+	1	2	PCNT	46594157	0.633000	0.27181	0.235000	0.24058	0.204000	0.24138	0.734000	0.26101	1.269000	0.44280	0.551000	0.68910	CTG	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207336.1		+	ENST00000359568.5	Missense_Mutation	SNP	21 : 47769729 - 47769729 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	341	23
FAM102A	399665	broad.mit.edu	37	9	130707059	130707059	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130707059C>T	ENST00000373095.1	-	9	1411	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K	FAM102A_ENST00000300434.3_5'UTR|FAM102A_ENST00000373084.4_Missense_Mutation_p.E204K	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	346										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						GGCTCACCCTCGGTGTTGCTG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	54	61			NA	NA	9		NA											NA				130707059		2203	4300	6503	SO:0001583	missense				CCDS6888.1, CCDS35150.1	9q34.11	2012-11-05	2005-11-17	2005-11-17	ENSG00000167106	ENSG00000167106	399665	399665			31419	protein-coding gene	gene with protein product	sym-3 homolog A (C. elegans)	610891	chromosome 9 open reading frame 132	C9orf132	NA		Standard		NM_001035254	NA	Approved	Eeig1, bA203J24.7, SYM-3A	uc004bsx.2	Q5T9C2	OTTHUMG00000020720	ENST00000373095.1:c.1036G>A	9.37:g.130707059C>T	ENSP00000362187:p.Glu346Lys	NA	Q8TEL4	37	CCDS35150.1	.	.	.	.	.	.	.	.	.	.	C	30	5.054004	0.93793	.	.	ENSG00000167106	ENST00000373095;ENST00000373084	T;T	0.53206	0.63;0.63	5.85	5.85	0.93711	.	0.097969	0.64402	D	0.000001	T	0.70859	0.3272	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.72304	-0.4333	10	0.62326	D	0.03	.	18.7228	0.91702	0.0:1.0:0.0:0.0	.	346	Q5T9C2	F102A_HUMAN	K	346;204	ENSP00000362187:E346K;ENSP00000362176:E204K	ENSP00000362176:E204K	E	-	1	0	FAM102A	129746880	1.000000	0.71417	0.979000	0.43373	0.381000	0.30169	7.523000	0.81856	2.764000	0.94973	0.563000	0.77884	GAG	FAM102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054298.2		-	ENST00000373095.1	Missense_Mutation	SNP	9 : 130707059 - 130707059 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	177	26
KLHL30	377007	broad.mit.edu	37	2	239059487	239059487	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239059487C>T	ENST00000409223.1	+	8	1625	c.1518C>T	c.(1516-1518)ggC>ggT	p.G506G	KLHL30_ENST00000305959.4_Silent_p.G488G			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	506										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		ATGAGAATGGCGCGCTGGTGC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	24	22			NA	NA	2		NA											NA				239059487		2181	4265	6446	SO:0001819	synonymous_variant				CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427	377007	377007		Kelch-like, BTB/POZ domain containing	24770	protein-coding gene	gene with protein product			kelch-like 30 (Drosophila)		NA		Standard	NM_198582	NM_198582	NA	Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.1518C>T	2.37:g.239059487C>T		NA	Q6ZUS1	37	CCDS46555.2																																																																																			KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328518.1		+	ENST00000409223.1	Silent	SNP	2 : 239059487 - 239059487 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	62	20
TONSL	4796	broad.mit.edu	37	8	145666464	145666464	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145666464A>G	ENST00000409379.3	-	8	925	c.896T>C	c.(895-897)cTg>cCg	p.L299P		NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	299					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						AGCCTCTTCCAGCTGTTGCTG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	57	58			NA	NA	8		NA											NA				145666464		2203	4298	6501	SO:0001583	missense				CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949	4796	4796		Ankyrin repeat domain containing	7801	protein-coding gene	gene with protein product		604546	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2	NFKBIL2	NA	7738005, 11246458	Standard	NM_013432	NM_013432	NA	Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.896T>C	8.37:g.145666464A>G	ENSP00000386239:p.Leu299Pro	NA	B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	37	CCDS34968.2	.	.	.	.	.	.	.	.	.	.	A	14.61	2.585666	0.46110	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.78364	-1.17	5.45	4.25	0.50352	Tetratricopeptide repeat-containing (1);	0.515774	0.19909	N	0.103339	D	0.85186	0.5639	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84339	0.0526	10	0.66056	D	0.02	-9.2436	9.7074	0.40225	0.8445:0.0:0.0:0.1555	.	299	Q96HA7	TONSL_HUMAN	P	299	ENSP00000386239:L299P	ENSP00000386239:L299P	L	-	2	0	TONSL	145637272	1.000000	0.71417	0.984000	0.44739	0.243000	0.25628	4.253000	0.58791	0.854000	0.35336	0.459000	0.35465	CTG	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329668.2		-	ENST00000409379.3	Missense_Mutation	SNP	8 : 145666464 - 145666464 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	418	65
KCNJ8	3764	broad.mit.edu	37	12	21926289	21926289	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21926289C>T	ENST00000240662.2	-	2	607	c.262G>A	c.(262-264)Gct>Act	p.A88T		NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	88						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	CACATGATAGCGAAGAGCAGC	0.517		NA									OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	114	122			NA	NA	12		NA											NA				21926289		2203	4300	6503	SO:0001583	missense			BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361	3764	3764		Potassium channels, Voltage-gated ion channels / Potassium channels, Inwardly rectifying	6269	protein-coding gene	gene with protein product		600935			NA	8595887, 16382105	Standard	NM_004982	NM_004982	NA	Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.262G>A	12.37:g.21926289C>T	ENSP00000240662:p.Ala88Thr	752	O00657	37	CCDS8692.1	.	.	.	.	.	.	.	.	.	.	C	32	5.153019	0.94645	.	.	ENSG00000121361	ENST00000240662;ENST00000539350;ENST00000537950	D;D	0.94576	-3.46;-3.46	4.44	4.44	0.53790	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.97436	0.9161	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.98397	1.0566	10	0.87932	D	0	.	17.2713	0.87103	0.0:1.0:0.0:0.0	.	88	Q15842	IRK8_HUMAN	T	88	ENSP00000240662:A88T;ENSP00000440012:A88T	ENSP00000240662:A88T	A	-	1	0	KCNJ8	21817556	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.638000	0.83328	2.303000	0.77524	0.467000	0.42956	GCT	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402226.1		-	ENST00000240662.2	Missense_Mutation	SNP	12 : 21926289 - 21926289 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	518	83
PSMA6	5687	broad.mit.edu	37	14	35783581	35783581	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35783581C>T	ENST00000261479.4	+	6	723	c.603C>T	c.(601-603)tgC>tgT	p.C201C	PSMA6_ENST00000555764.1_Silent_p.C122C|PSMA6_ENST00000540871.1_Silent_p.C182C|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000553809.1_Silent_p.C207C|PSMA6_ENST00000556506.1_Intron	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	201					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		CAATTACATGCCTGTCTACTG	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	57	58			NA	NA	14		NA											NA				35783581		2203	4300	6503	SO:0001819	synonymous_variant			X59417	CCDS9655.1, CCDS61437.1, CCDS61438.1	14q13	2003-03-12			ENSG00000100902	ENSG00000100902	5687	5687		Proteasome (prosome, macropain) subunits	9535	protein-coding gene	gene with protein product		602855			NA	1888762, 8811196	Standard		NM_002791	NA	Approved	IOTA, PROS27, p27K, MGC22756, MGC2333, MGC23846	uc001wtd.3	P60900	OTTHUMG00000140221	ENST00000261479.4:c.603C>T	14.37:g.35783581C>T		NA	B2R7J9|P34062|Q6IB60	37	CCDS9655.1	.	.	.	.	.	.	.	.	.	.	C	1.921	-0.448254	0.04572	.	.	ENSG00000100902	ENST00000556221	.	.	.	5.55	1.72	0.24424	.	.	.	.	.	T	0.57562	0.2062	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49351	-0.8949	4	.	.	.	-13.0287	9.2121	0.37324	0.0:0.5445:0.0:0.4555	.	.	.	.	V	40	.	.	A	+	2	0	PSMA6	34853332	0.972000	0.33761	0.997000	0.53966	0.995000	0.86356	0.247000	0.18179	0.112000	0.17975	0.650000	0.86243	GCC	PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276684.1		+	ENST00000261479.4	Silent	SNP	14 : 35783581 - 35783581 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	198	26
HNRNPC	3183	broad.mit.edu	37	14	21702191	21702191	+	Silent	SNP	G	G	A	rs117138992	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21702191G>A	ENST00000430246.2	-	2	3113	c.162C>T	c.(160-162)ttC>ttT	p.F54F	HNRNPC_ENST00000449098.1_Silent_p.F54F|HNRNPC_ENST00000556897.1_Silent_p.F54F|HNRNPC_ENST00000555914.1_Silent_p.F54F|HNRNPC_ENST00000555883.1_Silent_p.F54F|HNRNPC_ENST00000420743.2_Silent_p.F54F|HNRNPC_ENST00000557201.1_Silent_p.F54F|HNRNPC_ENST00000555309.1_Silent_p.F54F|HNRNPC_ENST00000556628.1_Intron|HNRNPC_ENST00000336053.6_Silent_p.F54F|HNRNPC_ENST00000553753.1_Silent_p.F54F|HNRNPC_ENST00000556513.1_Silent_p.F54F|HNRNPC_ENST00000320084.7_Silent_p.F54F|HNRNPC_ENST00000554455.1_Silent_p.F54F|HNRNPC_ENST00000553300.1_Silent_p.F54F|HNRNPC_ENST00000556142.1_Silent_p.F54F|HNRNPC_ENST00000554969.1_Silent_p.F54F			P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	54	RRM.					catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		CATACTGAACGAAGGCAAAGC	0.443		NA											G	1	5e-04	NA	NA	2184	NA	0.9995	,	,	NA	3e-04	0.0013	NA	NA	7e-04	0.7027	LOWCOV	NA	NA	4e-04	SNP	NSCLC(108;607 2244 12726 38757)							NA				0													86	85	85			NA	NA	14		NA											NA				21702191		2193	4294	6487	SO:0001819	synonymous_variant				CCDS41915.1, CCDS45079.1	14q11.2	2013-06-12		2007-08-16	ENSG00000092199	ENSG00000092199	3183	3183		RNA binding motif (RRM) containing	5035	protein-coding gene	gene with protein product		164020		HNRPC	NA	3457372	Standard		NM_031314	NA	Approved	hnRNPC	uc001waa.3	P07910	OTTHUMG00000170757	ENST00000430246.2:c.162C>T	14.37:g.21702191G>A		NA	D3DS19|D3DS22|P22628|Q53EX2|Q59FD3|Q5FWE8|Q86SF8|Q86U45|Q96HK7|Q96HM4|Q96IY5|Q9BTS3	37	CCDS45079.1																																																																																			HNRNPC-015	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410226.1		-	ENST00000430246.2	Silent	SNP	14 : 21702191 - 21702191 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	772	157
SLCO4C1	353189	broad.mit.edu	37	5	101583122	101583122	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:101583122C>T	ENST00000310954.6	-	10	1931	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	549	Kazal-like.				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GTTTTCCTTTCAATACAGGAA	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	81	79			NA	NA	5		NA											NA				101583122		2203	4300	6503	SO:0001583	missense			AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930	353189	353189		Solute carriers	23612	protein-coding gene	gene with protein product		609013			NA		Standard	NM_180991	NM_180991	NA	Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1645G>A	5.37:g.101583122C>T	ENSP00000309741:p.Glu549Lys	NA	Q86UG5	37	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	C	4.045	0.006002	0.07866	.	.	ENSG00000173930	ENST00000310954	T	0.38401	1.14	6.17	5.29	0.74685	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.549817	0.18733	N	0.132698	T	0.23054	0.0557	N	0.12961	0.28	0.37272	D	0.907466	B	0.02656	0.0	B	0.11329	0.006	T	0.11665	-1.0578	10	0.06757	T	0.87	.	17.5427	0.87852	0.0:0.8763:0.1237:0.0	.	549	Q6ZQN7	SO4C1_HUMAN	K	549	ENSP00000309741:E549K	ENSP00000309741:E549K	E	-	1	0	SLCO4C1	101611021	0.927000	0.31430	0.846000	0.33378	0.157000	0.22087	1.816000	0.38992	1.586000	0.49944	0.655000	0.94253	GAA	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370332.1		-	ENST00000310954.6	Missense_Mutation	SNP	5 : 101583122 - 101583122 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	529	103
GPR6	2830	broad.mit.edu	37	6	110300884	110300884	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:110300884C>A	ENST00000275169.3	+	1	587	c.569C>A	c.(568-570)gCc>gAc	p.A190D	GPR6_ENST00000414000.2_Missense_Mutation_p.A205D	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	190						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		CTCCTGCTTGCCGCCACTTGG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	27	26			NA	NA	6		NA											NA				110300884		2203	4300	6503	SO:0001583	missense				CCDS5079.1, CCDS69172.1	6q21	2012-08-21				ENSG00000146360	NA	2830		GPCR / Class A : Orphans	4515	protein-coding gene	gene with protein product		600553			NA	8530049	Standard		NM_001286099	NA	Approved		uc003ptu.3	P46095	OTTHUMG00000015354	ENST00000275169.3:c.569C>A	6.37:g.110300884C>A	ENSP00000275169:p.Ala190Asp	NA	Q17RJ7|Q5SYL0	37	CCDS5079.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964004	0.53507	.	.	ENSG00000146360	ENST00000428489;ENST00000414000;ENST00000275169	T;T	0.42513	0.97;0.97	4.83	4.83	0.62350	GPCR, rhodopsin-like superfamily (1);	0.273274	0.31772	N	0.007085	T	0.51449	0.1675	M	0.85462	2.755	0.09310	N	0.999994	D;D	0.64830	0.993;0.994	P;D	0.63597	0.889;0.916	T	0.51568	-0.8689	10	0.72032	D	0.01	.	8.2855	0.31926	0.0:0.7829:0.0:0.2171	.	205;190	B4DHS9;P46095	.;GPR6_HUMAN	D	190;205;190	ENSP00000406986:A205D;ENSP00000275169:A190D	ENSP00000275169:A190D	A	+	2	0	GPR6	110407577	0.965000	0.33210	0.411000	0.26484	0.955000	0.61496	3.201000	0.51059	2.504000	0.84457	0.563000	0.77884	GCC	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041774.1		+	ENST00000275169.3	Missense_Mutation	SNP	6 : 110300884 - 110300884 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	276	53
OR5AK2	390181	broad.mit.edu	37	11	56756842	56756842	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56756842G>A	ENST00000326855.2	+	1	496	c.454G>A	c.(454-456)Ggc>Agc	p.G152S		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						ATACATCATGGGCTCAATAAA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													227	199	208			NA	NA	11		NA											NA				56756842		2201	4296	6497	SO:0001583	missense			AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273	390181	390181		GPCR / Class A : Olfactory receptors	15251	protein-coding gene	gene with protein product					NA		Standard	NM_001005323	NM_001005323	NA	Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.454G>A	11.37:g.56756842G>A	ENSP00000322784:p.Gly152Ser	NA	B2RNZ9	37	CCDS31538.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921760	0.33908	.	.	ENSG00000181273	ENST00000326855	T	0.32988	1.43	3.85	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.173615	0.27442	N	0.019346	T	0.40767	0.1130	L	0.47078	1.49	0.09310	N	1	D	0.53462	0.96	P	0.54924	0.764	T	0.20306	-1.0279	10	0.46703	T	0.11	-16.038	14.912	0.70764	0.0:0.0:1.0:0.0	.	152	Q8NH90	O5AK2_HUMAN	S	152	ENSP00000322784:G152S	ENSP00000322784:G152S	G	+	1	0	OR5AK2	56513418	0.982000	0.34865	0.051000	0.19133	0.085000	0.17905	3.704000	0.54815	2.142000	0.66516	0.194000	0.17425	GGC	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392446.1		+	ENST00000326855.2	Missense_Mutation	SNP	11 : 56756842 - 56756842 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	859	41
SYNE1	23345	broad.mit.edu	37	6	152749345	152749345	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152749345C>A	ENST00000367255.5	-	37	5572	c.4971G>T	c.(4969-4971)tgG>tgT	p.W1657C	SYNE1_ENST00000448038.1_Missense_Mutation_p.W1664C|SYNE1_ENST00000423061.1_Missense_Mutation_p.W1664C|SYNE1_ENST00000341594.5_Missense_Mutation_p.W1727C|SYNE1_ENST00000367253.4_Missense_Mutation_p.W1657C|SYNE1_ENST00000265368.4_Missense_Mutation_p.W1657C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1657					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCACCTCTGCCAGTGGGCCA	0.517		NA								HNSCC(10;0.0054)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													190	199	196			NA	NA	6		NA											NA				152749345		2203	4300	6503	SO:0001583	missense			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018	23345	23345			17089	protein-coding gene	gene with protein product	myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1	608441	chromosome 6 open reading frame 98	C6orf98	NA	9872452, 10878022	Standard	NM_182961	NM_182961	NA	Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4971G>T	6.37:g.152749345C>A	ENSP00000356224:p.Trp1657Cys	NA	O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639583	0.67244	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23;0.23	5.87	5.87	0.94306	.	0.000000	0.56097	D	0.000029	T	0.71710	0.3372	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.999;0.999;0.999	T	0.72228	-0.4354	10	0.72032	D	0.01	.	20.206	0.98277	0.0:1.0:0.0:0.0	.	1640;1657;1657;1657;1664	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	C	1657;1664;1657;1664;1727;1657	ENSP00000356224:W1657C;ENSP00000396024:W1664C;ENSP00000265368:W1657C;ENSP00000390975:W1664C;ENSP00000341887:W1727C;ENSP00000356222:W1657C	ENSP00000265368:W1657C	W	-	3	0	SYNE1	152791038	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.449000	0.73473	2.785000	0.95823	0.655000	0.94253	TGG	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334755.2		-	ENST00000367255.5	Missense_Mutation	SNP	6 : 152749345 - 152749345 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1846	257
CALR	811	broad.mit.edu	37	19	13054419	13054419	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13054419C>T	ENST00000316448.5	+	8	1102	c.1029C>T	c.(1027-1029)ggC>ggT	p.G343G		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	343	C-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGAGTTTGGCAACGAGACGT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	121	133			NA	NA	19		NA											NA				13054419		2203	4300	6503	SO:0001819	synonymous_variant			M84739	CCDS12288.1	19p13.3-p13.2	2014-09-17				ENSG00000179218	811	811			1455	protein-coding gene	gene with protein product	Sicca syndrome antigen A (autoantigen Ro; calreticulin), autoantigen Ro	109091			NA	2365822	Standard	NM_004343	NM_004343	NA	Approved	RO, SSA, cC1qR, CRT, FLJ26680	uc002mvu.2	P27797		ENST00000316448.5:c.1029C>T	19.37:g.13054419C>T		NA	Q6IAT4|Q9UDG2	37	CCDS12288.1																																																																																			CALR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451952.1		+	ENST00000316448.5	Silent	SNP	19 : 13054419 - 13054419 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	276	47
DCDC1	341019	broad.mit.edu	37	11	30915873	30915873	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30915873C>T	ENST00000597505.1	-	33	4814	c.4815G>A	c.(4813-4815)caG>caA	p.Q1605Q	DCDC1_ENST00000406071.2_Silent_p.Q343Q			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CCACCACGGGCTGCACAGGGC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	72	71			NA	NA	11		NA											NA				30915873		1926	4138	6064	SO:0001819	synonymous_variant			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959	341019	341019			20625	protein-coding gene	gene with protein product		608062			NA	12820024	Standard	NM_181807	NM_181807	NA	Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.4815G>A	11.37:g.30915873C>T		NA	A6PVL6	37																																																																																				DCDC1-010	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000463167.1		-	ENST00000597505.1	Silent	SNP	11 : 30915873 - 30915873 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	63
CTTNBP2	83992	broad.mit.edu	37	7	117417759	117417759	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117417759G>A	ENST00000160373.3	-	8	2675	c.2584C>T	c.(2584-2586)Ctt>Ttt	p.L862F		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	862										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGGTACATAAGAAGCTTGAGG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	72	72			NA	NA	7		NA											NA				117417759		2203	4300	6503	SO:0001583	missense				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063	83992	83992		Ankyrin repeat domain containing	15679	protein-coding gene	gene with protein product		609772	cortactin binding protein 2	CORTBP2, C7orf8	NA	11707066	Standard	NM_033427	XM_005250635	NA	Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.2584C>T	7.37:g.117417759G>A	ENSP00000160373:p.Leu862Phe	NA	O43389|Q7LG11|Q9C0A5	37	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.027791|4.027791	0.75390|0.75390	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000160373|ENST00000446636	T|.	0.78126|.	-1.15|.	5.46|5.46	4.57|4.57	0.56435|0.56435	Ankyrin repeat-containing domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72645|0.72645	0.3486|0.3486	M|M	0.71296|0.71296	2.17|2.17	0.54753|0.54753	D|D	0.999987|0.999987	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.73219|0.73219	-0.4052|-0.4052	10|5	0.87932|.	D|.	0|.	-22.5799|-22.5799	14.9195|14.9195	0.70826|0.70826	0.0701:0.0:0.9299:0.0|0.0701:0.0:0.9299:0.0	.|.	862|.	Q8WZ74|.	CTTB2_HUMAN|.	F|F	862|349	ENSP00000160373:L862F|.	ENSP00000160373:L862F|.	L|S	-|-	1|2	0|0	CTTNBP2|CTTNBP2	117204995|117204995	1.000000|1.000000	0.71417|0.71417	0.511000|0.511000	0.27724|0.27724	0.803000|0.803000	0.45373|0.45373	6.945000|6.945000	0.75947|0.75947	1.410000|1.410000	0.46936|0.46936	0.650000|0.650000	0.86243|0.86243	CTT|TCT	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059201.4		-	ENST00000160373.3	Missense_Mutation	SNP	7 : 117417759 - 117417759 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	295	45
MYH15	22989	broad.mit.edu	37	3	108214691	108214691	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108214691G>A	ENST00000273353.3	-	8	763	c.707C>T	c.(706-708)gCg>gTg	p.A236V		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	236	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GATAGTATTCGCTTGCATGAT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	102	106			NA	NA	3		NA											NA				108214691		1861	4095	5956	SO:0001583	missense			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821	22989	22989		Myosins / Myosin superfamily : Class II	31073	protein-coding gene	gene with protein product		609929	myosin, heavy polypeptide 15		NA	15014174, 15042088	Standard	XM_036988	NM_014981	NA	Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.707C>T	3.37:g.108214691G>A	ENSP00000273353:p.Ala236Val	NA		37	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	9.462	1.093275	0.20471	.	.	ENSG00000144821	ENST00000273353	T	0.73047	-0.71	4.84	-1.61	0.08399	Myosin head, motor domain (2);	.	.	.	.	T	0.66557	0.2801	M	0.74881	2.28	0.28598	N	0.909315	B	0.27192	0.171	B	0.24541	0.054	T	0.60747	-0.7202	9	0.52906	T	0.07	.	10.1362	0.42708	0.4652:0.0:0.5348:0.0	.	236	Q9Y2K3	MYH15_HUMAN	V	236	ENSP00000273353:A236V	ENSP00000273353:A236V	A	-	2	0	MYH15	109697381	0.649000	0.27322	0.002000	0.10522	0.060000	0.15804	2.968000	0.49224	-0.219000	0.10003	-1.099000	0.02127	GCG	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353935.1		-	ENST00000273353.3	Missense_Mutation	SNP	3 : 108214691 - 108214691 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	113	29
MTNR1A	4543	broad.mit.edu	37	4	187454932	187454932	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187454932C>T	ENST00000307161.5	-	2	1165	c.964G>A	c.(964-966)Gac>Aac	p.D322N	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	322					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	TTAGAGCTGTCCACAAAGAAC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	136	137			NA	NA	4		NA											NA				187454932		2203	4300	6503	SO:0001583	missense				CCDS3848.1	4q35	2012-08-08				ENSG00000168412	4543	4543		GPCR / Class A : Melatonin receptors	7463	protein-coding gene	gene with protein product		600665			NA	7558006	Standard		NM_005958	NA	Approved	MEL-1A-R	uc003izd.1	P48039		ENST00000307161.5:c.964G>A	4.37:g.187454932C>T	ENSP00000302811:p.Asp322Asn	NA	A0AVC5|B0M0L2	37	CCDS3848.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.536802	0.27475	.	.	ENSG00000168412	ENST00000307161	T	0.71817	-0.6	4.66	3.7	0.42460	.	0.265700	0.42172	D	0.000753	T	0.67832	0.2935	M	0.63428	1.95	0.40875	D	0.983943	B	0.15141	0.012	B	0.14023	0.01	T	0.65845	-0.6069	10	0.41790	T	0.15	-3.7703	14.9647	0.71182	0.0:0.8057:0.1943:0.0	.	322	P48039	MTR1A_HUMAN	N	322	ENSP00000302811:D322N	ENSP00000302811:D322N	D	-	1	0	MTNR1A	187691926	1.000000	0.71417	0.937000	0.37676	0.114000	0.19823	4.341000	0.59335	0.990000	0.38787	0.655000	0.94253	GAC	MTNR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360189.1		-	ENST00000307161.5	Missense_Mutation	SNP	4 : 187454932 - 187454932 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	558	145
C19orf18	147685	broad.mit.edu	37	19	58470038	58470038	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58470038C>A	ENST00000314391.3	-	6	681	c.580G>T	c.(580-582)Gag>Tag	p.E194*		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	194						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		GAGTTTTGCTCTTCCTTCAGT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	61	63			NA	NA	19		NA											NA				58470038		2202	4300	6502	SO:0001587	stop_gained			BC033933	CCDS12967.1	19q13.43	2013-03-11			ENSG00000177025	ENSG00000177025	147685	147685			28642	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152474	NM_152474	NA	Approved	MGC41906	uc002qqv.3	Q8NEA5	OTTHUMG00000183450	ENST00000314391.3:c.580G>T	19.37:g.58470038C>A	ENSP00000321519:p.Glu194*	NA		37	CCDS12967.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433390	0.25813	.	.	ENSG00000177025	ENST00000314391	.	.	.	3.14	-1.56	0.08532	.	.	.	.	.	.	.	.	.	.	.	0.36516	D	0.869866	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-40.216	3.3469	0.07139	0.0:0.4199:0.2063:0.3738	.	.	.	.	X	194	.	ENSP00000321519:E194X	E	-	1	0	C19orf18	63161850	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.002000	0.13061	-0.193000	0.10415	-0.350000	0.07774	GAG	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466704.1		-	ENST00000314391.3	Nonsense_Mutation	SNP	19 : 58470038 - 58470038 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	154	17
ATXN7L2	127002	broad.mit.edu	37	1	110031538	110031538	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110031538C>A	ENST00000369870.3	+	7	868	c.853C>A	c.(853-855)Ctg>Atg	p.L285M		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	285	SCA7.									breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGTGGCAGAGCTGAAGGCCAA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	44	43			NA	NA	1		NA											NA				110031538		2203	4300	6503	SO:0001583	missense			BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650	127002	127002			28713	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_153340	NM_153340	NA	Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.853C>A	1.37:g.110031538C>A	ENSP00000358886:p.Leu285Met	NA		37	CCDS30794.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.286534	0.59867	.	.	ENSG00000162650	ENST00000369870;ENST00000541125	T	0.35421	1.31	5.72	4.82	0.62117	SCA7 domain (2);	0.000000	0.47093	D	0.000246	T	0.28928	0.0718	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.13045	-1.0524	10	0.35671	T	0.21	-7.1685	8.7501	0.34611	0.0:0.8294:0.0:0.1706	.	285	Q5T6C5	AT7L2_HUMAN	M	285	ENSP00000358886:L285M	ENSP00000358886:L285M	L	+	1	2	ATXN7L2	109833061	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	1.513000	0.35823	1.424000	0.47217	0.561000	0.74099	CTG	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000030331.1		+	ENST00000369870.3	Missense_Mutation	SNP	1 : 110031538 - 110031538 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	363	17
MBOAT1	154141	broad.mit.edu	37	6	20102597	20102597	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:20102597A>T	ENST00000324607.7	-	13	1572	c.1408T>A	c.(1408-1410)Ttt>Att	p.F470I	MBOAT1_ENST00000541730.1_Missense_Mutation_p.F321I	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	470					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			ATTGGCAGAAATAGTATTATC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	105	105			NA	NA	6		NA											NA				20102597		2203	4300	6503	SO:0001583	missense			AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197	154141	154141			21579	protein-coding gene	gene with protein product	lysophosphatidylethanolamine acyltransferase 1	611732	O-acyltransferase (membrane bound) domain containing 1	OACT1	NA	18287005	Standard		NM_001080480	NA	Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.1408T>A	6.37:g.20102597A>T	ENSP00000324944:p.Phe470Ile	NA	A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	37	CCDS34346.1	.	.	.	.	.	.	.	.	.	.	A	2.735	-0.263539	0.05754	.	.	ENSG00000172197	ENST00000541730;ENST00000324607	T;T	0.19105	2.17;2.61	5.03	1.06	0.20224	.	0.592069	0.18066	N	0.152795	T	0.02571	0.0078	N	0.20685	0.6	0.29436	N	0.859493	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.001	T	0.43893	-0.9363	10	0.11182	T	0.66	-8.0088	3.0293	0.06102	0.5593:0.0:0.1877:0.253	.	321;470	Q6ZNC8-2;Q6ZNC8	.;MBOA1_HUMAN	I	321;470	ENSP00000441568:F321I;ENSP00000324944:F470I	ENSP00000324944:F470I	F	-	1	0	MBOAT1	20210576	0.003000	0.15002	0.271000	0.24616	0.953000	0.61014	-0.053000	0.11846	0.466000	0.27193	0.533000	0.62120	TTT	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039980.1		-	ENST00000324607.7	Missense_Mutation	SNP	6 : 20102597 - 20102597 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	480	93
CHAF1A	10036	broad.mit.edu	37	19	4429469	4429469	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4429469G>A	ENST00000301280.5	+	9	1740	c.1639G>A	c.(1639-1641)Ggt>Agt	p.G547S		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	547					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGGGCGACGGTGTTCCCGA	0.572		NA						Chromatin Structure						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	SER/GLY	0,4406		0,0,2203	106	94	98		1639	1.5	0	19		98	4,8596	3.7+/-12.6	0,4,4296	yes	missense	CHAF1A	NM_005483.2	56	0,4,6499	AA,AG,GG	NA	0.0465,0.0,0.0308	probably-damaging	547/957	4429469	4,13002	2203	4300	6503	SO:0001583	missense			U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670	10036	10036			1910	protein-coding gene	gene with protein product	chromatin assembly factor I (150 kDa)	601246			NA	7600578	Standard	NM_005483	NM_005483	NA	Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.1639G>A	19.37:g.4429469G>A	ENSP00000301280:p.Gly547Ser	NA	Q6NXG5|Q7Z7K3|Q9UJY8	37	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	G	9.240	1.038125	0.19669	0.0	4.65E-4	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.14144	2.53	5.14	1.49	0.22878	.	.	.	.	.	T	0.10594	0.0259	L	0.55481	1.735	0.09310	N	0.999996	P	0.41475	0.751	B	0.26094	0.066	T	0.16988	-1.0384	9	0.87932	D	0	-17.0114	8.1559	0.31169	0.2988:0.0:0.7012:0.0	.	547	Q13111	CAF1A_HUMAN	S	547	ENSP00000301280:G547S	ENSP00000301280:G547S	G	+	1	0	CHAF1A	4380469	0.116000	0.22171	0.004000	0.12327	0.000000	0.00434	1.660000	0.37397	0.386000	0.24997	-0.237000	0.12165	GGT	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458310.2		+	ENST00000301280.5	Missense_Mutation	SNP	19 : 4429469 - 4429469 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	425	63
RPL18A	6142	broad.mit.edu	37	19	17973031	17973031	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17973031C>A	ENST00000600147.1	+	3	363	c.327C>A	c.(325-327)tgC>tgA	p.C109*	RPL18A_ENST00000599898.1_Splice_Site_p.C70*|RPL18A_ENST00000599870.1_Splice_Site_p.C80*|RPL18A_ENST00000222247.5_Splice_Site_p.C109*			Q02543	RL18A_HUMAN	ribosomal protein L18a	109					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						TCACCCAGTGCTGTAAGCTGC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	60	58			NA	NA	19		NA											NA				17973031		2203	4300	6503	SO:0001630	splice_region_variant			AB007175	CCDS12367.1	19p13.11	2011-04-06			ENSG00000105640	ENSG00000105640	6142	6142		L ribosomal proteins	10311	protein-coding gene	gene with protein product	60S ribosomal protein L18a, ribosomal protein L18a-like protein	604178			NA	9582194	Standard	NM_000980	NM_000980	NA	Approved	L18A	uc002nhp.3	Q02543		ENST00000600147.1:c.328+1C>A	19.37:g.17973031C>A		NA		37		.	.	.	.	.	.	.	.	.	.	C	17.53	3.411930	0.62511	.	.	ENSG00000105640	ENST00000420197;ENST00000222247	.	.	.	4.18	3.14	0.36123	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9737	0.41770	0.0:0.8976:0.0:0.1024	.	.	.	.	X	109	.	ENSP00000222247:C109X	C	+	3	2	RPL18A	17834031	1.000000	0.71417	0.994000	0.49952	0.247000	0.25773	4.786000	0.62425	0.897000	0.36392	0.557000	0.71058	TGC	RPL18A-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000466681.1	Nonsense_Mutation	+	ENST00000600147.1	Splice_Site	SNP	19 : 17973031 - 17973031 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	717	100
DNAH9	1770	broad.mit.edu	37	17	11684429	11684429	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11684429G>T	ENST00000454412.2	+	39	7656	c.7656G>T	c.(7654-7656)gtG>gtT	p.V2552V	DNAH9_ENST00000262442.4_Silent_p.V2552V			Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2552	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGCCTGAGGTGGATGCCTACG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	56	60			NA	NA	17		NA											NA				11684429		2203	4300	6503	SO:0001819	synonymous_variant			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174	1770	1770		Axonemal dyneins	2953	protein-coding gene	gene with protein product		603330	dynein, axonemal, heavy polypeptide 17-like, dynein, axonemal, heavy polypeptide 9	DNAH17L	NA	8812413, 11247663	Standard	NM_001372	NM_001372	NA	Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000454412.2:c.7656G>T	17.37:g.11684429G>T		NA	O15064|O95494|Q9NQ28	37																																																																																				DNAH9-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000252758.4		+	ENST00000454412.2	Silent	SNP	17 : 11684429 - 11684429 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	238	33
ADAMTS7	11173	broad.mit.edu	37	15	79059345	79059345	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79059345T>C	ENST00000388820.4	-	19	3118	c.2908A>G	c.(2908-2910)Acc>Gcc	p.T970A	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	970	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GTGTCATTGGTGCAGAGGACA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	45	44			NA	NA	15		NA											NA				79059345		2192	4280	6472	SO:0001583	missense			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378	11173	11173		ADAM metallopeptidases with thrombospondin type 1 motif	223	protein-coding gene	gene with protein product	COMPase, a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein	605009	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7		NA	10464288	Standard	NM_014272	NM_014272	NA	Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2908A>G	15.37:g.79059345T>C	ENSP00000373472:p.Thr970Ala	NA	Q14F51|Q6P7J9	37	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	T	0.858	-0.736240	0.03111	.	.	ENSG00000136378	ENST00000388820	T	0.50548	0.74	4.83	2.5	0.30297	.	0.752267	0.12865	N	0.432744	T	0.28995	0.0720	N	0.21194	0.64	0.19300	N	0.999978	B	0.21452	0.056	B	0.27076	0.076	T	0.30650	-0.9971	10	0.05959	T	0.93	.	8.0235	0.30423	0.0:0.1736:0.0:0.8264	.	970	Q9UKP4	ATS7_HUMAN	A	970	ENSP00000373472:T970A	ENSP00000373472:T970A	T	-	1	0	ADAMTS7	76846400	1.000000	0.71417	0.004000	0.12327	0.062000	0.15995	2.832000	0.48152	0.213000	0.20722	-0.342000	0.07992	ACC	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421331.1		-	ENST00000388820.4	Missense_Mutation	SNP	15 : 79059345 - 79059345 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	418	70
TBX15	6913	broad.mit.edu	37	1	119427768	119427768	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:119427768C>T	ENST00000369429.3	-	8	1405	c.1396G>A	c.(1396-1398)Ggt>Agt	p.G466S	TBX15_ENST00000207157.3_Missense_Mutation_p.G360S			Q96SF7	TBX15_HUMAN	T-box 15	466						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		AGCTGGCCACCGTAGGCTTCC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	63	57	59		1078	5.3	1	1		59	0,8600		0,0,4300	no	missense	TBX15	NM_152380.2	56	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	benign	360/497	119427768	1,13005	2203	4300	6503	SO:0001583	missense			AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607	6913	6913		T-boxes	11594	protein-coding gene	gene with protein product		604127	T-box 14	TBX14	NA	9693034	Standard	NM_152380	XM_005271162	NA	Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.1396G>A	1.37:g.119427768C>T	ENSP00000358437:p.Gly466Ser	NA	Q08E76|Q5JT54|Q5T9S7	37		.	.	.	.	.	.	.	.	.	.	C	6.700	0.497869	0.12762	2.27E-4	0.0	ENSG00000092607	ENST00000344218;ENST00000207157;ENST00000369429;ENST00000449873	D;D;T	0.86497	-2.13;-2.03;-0.92	5.31	5.31	0.75309	.	0.169902	0.52532	D	0.000061	T	0.33933	0.0880	N	0.00841	-1.15	0.38949	D	0.958302	P;B	0.36412	0.552;0.027	B;B	0.22753	0.041;0.003	T	0.63883	-0.6536	10	0.02654	T	1	.	6.3764	0.21509	0.0:0.7909:0.0:0.2091	.	263;466	E9PCG3;Q96SF7	.;TBX15_HUMAN	S	263;360;466;194	ENSP00000207157:G360S;ENSP00000358437:G466S;ENSP00000398625:G194S	ENSP00000207157:G360S	G	-	1	0	TBX15	119229291	0.337000	0.24766	0.967000	0.41034	0.748000	0.42578	0.911000	0.28584	2.768000	0.95171	0.561000	0.74099	GGT	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000034351.1		-	ENST00000369429.3	Missense_Mutation	SNP	1 : 119427768 - 119427768 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	279	27
SNRPA1	6627	broad.mit.edu	37	15	101821938	101821938	+	Silent	SNP	G	G	A	rs151201574	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101821938G>A	ENST00000254193.6	-	9	831	c.759C>T	c.(757-759)aaC>aaT	p.N253N		NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	253						catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTCAGGACCCGTTTGTGACTG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4405	2.1+/-5.4	0,1,2202	100	96	98		759	-8.6	0.3	15	dbSNP_134	98	13,8587	9.8+/-36.6	0,13,4287	no	coding-synonymous	SNRPA1	NM_003090.2		0,14,6489	AA,AG,GG	NA	0.1512,0.0227,0.1076		253/256	101821938	14,12992	2203	4300	6503	SO:0001819	synonymous_variant			AJ130971	CCDS10391.1	15q26.3	2011-10-11			ENSG00000131876	ENSG00000131876	6627	6627			11152	protein-coding gene	gene with protein product		603521			NA	2928112	Standard	NM_003090	NM_003090	NA	Approved	Lea1	uc002bww.3	P09661	OTTHUMG00000149871	ENST00000254193.6:c.759C>T	15.37:g.101821938G>A		NA	B2R5I6|Q8TBD2	37	CCDS10391.1																																																																																			SNRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313621.2		-	ENST00000254193.6	Silent	SNP	15 : 101821938 - 101821938 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	355	64
KIAA1841	84542	broad.mit.edu	37	2	61343134	61343134	+	Missense_Mutation	SNP	A	A	C	rs146888479	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61343134A>C	ENST00000402291.1	+	17	2006	c.1765A>C	c.(1765-1767)Aag>Cag	p.K589Q	KIAA1841_ENST00000295031.5_Missense_Mutation_p.K589Q|KIAA1841_ENST00000356719.2_Missense_Mutation_p.K589Q|KIAA1841_ENST00000453873.1_Missense_Mutation_p.K589Q	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	589										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GAAGCCAAAGAAGTTCACTAG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	114	112			NA	NA	2		NA											NA				61343134		2203	4300	6503	SO:0001583	missense			BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929	84542	84542			29387	protein-coding gene	gene with protein product					NA	11347906	Standard	NM_032506	NM_032506	NA	Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1765A>C	2.37:g.61343134A>C	ENSP00000385579:p.Lys589Gln	NA	Q49AF0|Q6ZND0|Q96JI6	37	CCDS46296.1	.	.	.	.	.	.	.	.	.	.	A	19.63	3.863708	0.71949	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.35	5.35	0.76521	.	0.166361	0.56097	D	0.000040	T	0.46946	0.1419	M	0.64997	1.995	0.50632	D	0.999884	D;P	0.54601	0.967;0.905	P;P	0.50490	0.642;0.462	T	0.46679	-0.9174	10	0.48119	T	0.1	-12.7431	15.3031	0.73969	1.0:0.0:0.0:0.0	.	589;589	Q6NSI8-2;Q6NSI8	.;K1841_HUMAN	Q	589	ENSP00000385579:K589Q;ENSP00000295031:K589Q;ENSP00000349154:K589Q;ENSP00000416795:K589Q	ENSP00000295031:K589Q	K	+	1	0	KIAA1841	61196638	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.388000	0.73195	2.151000	0.67156	0.460000	0.39030	AAG	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325477.1		+	ENST00000402291.1	Missense_Mutation	SNP	2 : 61343134 - 61343134 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	341	76
TCF20	6942	broad.mit.edu	37	22	42611246	42611246	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42611246G>A	ENST00000359486.3	-	1	202	c.66C>T	c.(64-66)caC>caT	p.H22H	TCF20_ENST00000335626.4_Silent_p.H22H	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	22					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGGATGAGCCGTGTACCTCCT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	65	68			NA	NA	22		NA											NA				42611246		2203	4300	6503	SO:0001819	synonymous_variant			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207	6942	6942			11631	protein-coding gene	gene with protein product	stromelysin-1 platelet-derived growth factor-responsive element binding protein	603107			NA	9730594, 10995766	Standard	NM_181492	NM_005650	NA	Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.66C>T	22.37:g.42611246G>A		NA	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	37	CCDS14033.1																																																																																			TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320531.1		-	ENST00000359486.3	Silent	SNP	22 : 42611246 - 42611246 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	61
HADHB	3032	broad.mit.edu	37	2	26501526	26501526	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26501526G>A	ENST00000317799.5	+	8	591	c.487G>A	c.(487-489)Ggt>Agt	p.G163S	HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000537713.1_Missense_Mutation_p.G148S|HADHB_ENST00000405867.3_Intron|HADHB_ENST00000545822.1_Missense_Mutation_p.G141S	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	163					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATCGTGGCAGGTGGTGTTGA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													237	224	228			NA	NA	2		NA											NA				26501526		2203	4300	6503	SO:0001583	missense				CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	3032	3032	2.3.1.16		4803	protein-coding gene	gene with protein product	mitochondrial trifunctional protein, beta subunit	143450	hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit		NA	9605857	Standard	NM_000183	NM_000183	NA	Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.487G>A	2.37:g.26501526G>A	ENSP00000325136:p.Gly163Ser	NA	B2RB16|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	37	CCDS1722.1	.	.	.	.	.	.	.	.	.	.	G	35	5.465686	0.96257	.	.	ENSG00000138029	ENST00000317799;ENST00000537713;ENST00000545822;ENST00000425035	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	5.44	5.44	0.79542	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	D	0.97420	0.9156	H	0.95611	3.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.98302	1.0519	9	.	.	.	-19.9874	18.186	0.89793	0.0:0.0:1.0:0.0	.	148;141;163	F5GZQ3;B4E2W0;P55084	.;.;ECHB_HUMAN	S	163;148;141;163	ENSP00000325136:G163S;ENSP00000444295:G148S;ENSP00000442665:G141S;ENSP00000404633:G163S	.	G	+	1	0	HADHB	26355030	1.000000	0.71417	0.995000	0.50966	0.704000	0.40688	9.759000	0.98931	2.708000	0.92522	0.650000	0.86243	GGT	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214050.2		+	ENST00000317799.5	Missense_Mutation	SNP	2 : 26501526 - 26501526 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	579	63
CYP1A2	1544	broad.mit.edu	37	15	75042451	75042451	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75042451C>A	ENST00000343932.4	+	2	435	c.372C>A	c.(370-372)acC>acA	p.T124T		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	124					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	AGAGCTTGACCTTCAGCACAG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	79	80			NA	NA	15		NA											NA				75042451		2197	4295	6492	SO:0001819	synonymous_variant			AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1544	1544	1.14.14.1	Cytochrome P450s	2596	protein-coding gene	gene with protein product		124060	cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2		NA	15128046	Standard	NM_000761	NM_000761	NA	Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.372C>A	15.37:g.75042451C>A		NA	Q16754|Q6NWU5|Q9BXX7|Q9UK49	37	CCDS32293.1																																																																																			CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421263.2		+	ENST00000343932.4	Silent	SNP	15 : 75042451 - 75042451 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	902	187
ADNP	23394	broad.mit.edu	37	20	49508536	49508536	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:49508536G>A	ENST00000396029.3	-	5	3282	c.2715C>T	c.(2713-2715)aaC>aaT	p.N905N	ADNP_ENST00000396032.3_Silent_p.N905N|ADNP_ENST00000349014.3_Silent_p.N905N|ADNP_ENST00000371602.4_Silent_p.N905N	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	905						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CTGGGTTATCGTTAGAGATTT	0.388		NA											G	1	5e-04	NA	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	LOWCOV,EXOME	NA	NA	0.0014	SNP								NA				0													151	151	151			NA	NA	20		NA											NA				49508536		2203	4300	6503	SO:0001819	synonymous_variant			AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126	23394	23394		Homeoboxes / ZF class	15766	protein-coding gene	gene with protein product	ADNP homeobox 1	611386	activity-dependent neuroprotector		NA	9872452, 11013255	Standard	NM_181442	NM_015339	NA	Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.2715C>T	20.37:g.49508536G>A		NA	E1P5Y2|O94881|Q5BKU2|Q9UG34	37	CCDS13433.1																																																																																			ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079705.2		-	ENST00000396029.3	Silent	SNP	20 : 49508536 - 49508536 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	943	95
PLCE1	51196	broad.mit.edu	37	10	96044717	96044717	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96044717T>C	ENST00000371380.3	+	21	5265	c.5030T>C	c.(5029-5031)tTt>tCt	p.F1677S	PLCE1-AS1_ENST00000425267.3_RNA|PLCE1_ENST00000371385.3_Missense_Mutation_p.F1369S|PLCE1-AS1_ENST00000596633.1_RNA|PLCE1_ENST00000371375.1_Missense_Mutation_p.F1369S|PLCE1-AS1_ENST00000440198.1_RNA|PLCE1_ENST00000260766.3_Missense_Mutation_p.F1677S			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	NA					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GCAGTAAAATTTCCAGGTAAG	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	54	56			NA	NA	10		NA											NA				96044717		1798	4076	5874	SO:0001583	missense				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	51196	51196	3.1.4.11		17175	protein-coding gene	gene with protein product	nephrosis type 3	608414			NA	11022047, 11022048	Standard	NM_016341	NM_016341	NA	Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.5030T>C	10.37:g.96044717T>C	ENSP00000360431:p.Phe1677Ser	NA	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	37	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.730133	0.89390	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.69	5.69	0.88448	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.255913	0.39083	N	0.001465	T	0.63438	0.2511	L	0.34521	1.04	0.54753	D	0.999987	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.996;0.998;0.997	T	0.65817	-0.6076	10	0.59425	D	0.04	.	15.6241	0.76840	0.0:0.0:0.0:1.0	.	1661;1369;1677	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	S	1677;1677;1369;1369	ENSP00000260766:F1677S;ENSP00000360431:F1677S;ENSP00000360438:F1369S;ENSP00000360426:F1369S	ENSP00000260766:F1677S	F	+	2	0	PLCE1	96034707	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.953000	0.87836	2.178000	0.69098	0.454000	0.30748	TTT	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049469.3		+	ENST00000371380.3	Missense_Mutation	SNP	10 : 96044717 - 96044717 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	256	57
CREB3L2	64764	broad.mit.edu	37	7	137565285	137565285	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137565285T>G	ENST00000330387.6	-	12	1851	c.1500A>C	c.(1498-1500)aaA>aaC	p.K500N		NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	500					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TCCCCTCCAGTTTGGCGCTGA	0.453		NA	T	FUS	fibromyxoid sarcoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		7	7q34	64764	cAMP responsive element binding protein 3-like 2		M	0													125	98	107			NA	NA	7		NA											NA				137565285		2203	4300	6503	SO:0001583	missense			AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158	64764	64764		basic leucine zipper proteins	23720	protein-coding gene	gene with protein product		608834			NA		Standard	NM_194071	NM_194071	NA	Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.1500A>C	7.37:g.137565285T>G	ENSP00000329140:p.Lys500Asn	NA	Q6P454|Q6ZMR6	37	CCDS34760.1	.	.	.	.	.	.	.	.	.	.	T	13.80	2.346474	0.41599	.	.	ENSG00000182158	ENST00000330387	T	0.59772	0.24	5.3	1.52	0.23074	.	0.481828	0.23433	N	0.048238	T	0.40196	0.1107	L	0.36672	1.1	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.11591	-1.0581	10	0.32370	T	0.25	-7.1005	5.0655	0.14580	0.0:0.1448:0.3077:0.5475	.	500	Q70SY1	CR3L2_HUMAN	N	500	ENSP00000329140:K500N	ENSP00000329140:K500N	K	-	3	2	CREB3L2	137215825	0.932000	0.31603	0.996000	0.52242	0.997000	0.91878	-0.355000	0.07671	0.292000	0.22492	0.533000	0.62120	AAA	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341462.1		-	ENST00000330387.6	Missense_Mutation	SNP	7 : 137565285 - 137565285 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	121	8
AIFM3	150209	broad.mit.edu	37	22	21330996	21330996	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21330996C>T	ENST00000399167.2	+	12	1327	c.1087C>T	c.(1087-1089)Ctg>Ttg	p.L363L	AIFM3_ENST00000333607.6_Silent_p.L363L|AIFM3_ENST00000405089.1_Silent_p.L369L|AIFM3_ENST00000440238.2_Silent_p.L363L|AIFM3_ENST00000399163.2_Silent_p.L363L|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000335375.5_Silent_p.L351L	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3	NA										breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGTGGTGGAGCTGGAGGAGAC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001819	synonymous_variant			AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773	150209	150209			26398	protein-coding gene	gene with protein product					NA	15764604	Standard	NM_144704	NM_144704	NA	Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.1087C>T	22.37:g.21330996C>T		NA		37	CCDS13786.1																																																																																			AIFM3-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320150.1		+	ENST00000399167.2	Silent	SNP	22 : 21330996 - 21330996 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	109	19
AXIN1	8312	broad.mit.edu	37	16	360044	360044	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:360044G>A	ENST00000262320.3	-	4	1416	c.1045C>T	c.(1045-1047)Cgt>Tgt	p.R349C	AXIN1_ENST00000354866.3_Missense_Mutation_p.R349C|AXIN1_ENST00000481769.1_5'UTR	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	349	Interaction with GSK3B (By similarity).				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	p.R349C(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				TGCTGCTTACGGATCCTGTAT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	liver(1)						G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	79	51	60		1045,1045	4.8	0.9	16		60	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AXIN1	NM_003502.3,NM_181050.2	180,180	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging	349/863,349/827	360044	1,13005	2203	4300	6503	SO:0001583	missense			AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126	8312	8312		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	903	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 49	603816			NA	9230313	Standard		NM_003502	NA	Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1045C>T	16.37:g.360044G>A	ENSP00000262320:p.Arg349Cys	NA	Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	37	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010028	0.54361	0.0	1.16E-4	ENSG00000103126	ENST00000262320;ENST00000354866	D;D	0.82893	-1.66;-1.66	4.84	4.84	0.62591	.	0.057737	0.64402	D	0.000001	D	0.89111	0.6622	M	0.78801	2.425	0.80722	D	1	D;D	0.61080	0.987;0.989	P;P	0.55087	0.768;0.667	D	0.91021	0.4857	10	0.87932	D	0	14.04	17.9962	0.89185	0.0:0.0:1.0:0.0	.	349;349	O15169-2;O15169	.;AXIN1_HUMAN	C	349	ENSP00000262320:R349C;ENSP00000346935:R349C	ENSP00000262320:R349C	R	-	1	0	AXIN1	300045	1.000000	0.71417	0.939000	0.37840	0.174000	0.22865	7.486000	0.81215	2.257000	0.74773	0.456000	0.33151	CGT	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000139441.3		-	ENST00000262320.3	Missense_Mutation	SNP	16 : 360044 - 360044 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	104	18
ZNF606	80095	broad.mit.edu	37	19	58500015	58500015	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58500015C>T	ENST00000341164.4	-	5	872	c.252G>A	c.(250-252)agG>agA	p.R84R	ZNF606_ENST00000536132.1_5'UTR	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	84	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		GGTACAGGGTCCTCTGAACAA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													213	190	198			NA	NA	19		NA											NA				58500015		2203	4300	6503	SO:0001819	synonymous_variant			AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704	80095	80095		Zinc fingers, C2H2-type, -	25879	protein-coding gene	gene with protein product		613905		ZNF328	NA	11347906	Standard	NM_025027	XM_005259276	NA	Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.252G>A	19.37:g.58500015C>T		NA	A8KAN2|Q8NE04|Q96JH5	37	CCDS12968.1																																																																																			ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405961.1		-	ENST00000341164.4	Silent	SNP	19 : 58500015 - 58500015 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1274	224
OR2H2	7932	broad.mit.edu	37	6	29556001	29556001	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29556001G>A	ENST00000383640.2	+	1	319	c.280G>A	c.(280-282)Gac>Aac	p.D94N	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	94					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						CAGCTTCCTGGACTGCTCTGT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	117	119			NA	NA	6		NA											NA				29556001		1511	2709	4220	SO:0001583	missense				CCDS34365.1	6p22.2-p21.31	2012-08-09				ENSG00000204657	7932	7932		GPCR / Class A : Olfactory receptors	8253	protein-coding gene	gene with protein product		600578			NA		Standard		XM_005249407	NA	Approved	hs6M1-12	uc003nmr.1	O95918		ENST00000383640.2:c.280G>A	6.37:g.29556001G>A	ENSP00000373136:p.Asp94Asn	NA	Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14	37	CCDS34365.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273938	0.40194	.	.	ENSG00000204657	ENST00000383640	T	0.03004	4.08	4.44	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41823	D	0.000809	T	0.01092	0.0036	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48570	-0.9024	10	0.87932	D	0	.	15.9828	0.80125	0.0:0.0:1.0:0.0	.	94	O95918	OR2H2_HUMAN	N	94	ENSP00000373136:D94N	ENSP00000373136:D94N	D	+	1	0	OR2H2	29663980	0.049000	0.20398	0.940000	0.37924	0.964000	0.63967	2.301000	0.43628	2.292000	0.77174	0.585000	0.79938	GAC	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076057.2		+	ENST00000383640.2	Missense_Mutation	SNP	6 : 29556001 - 29556001 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	510	102
PRAMEF11	440560	broad.mit.edu	37	1	12884806	12884806	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12884806G>A	ENST00000535591.1	-	4	1500	c.1305C>T	c.(1303-1305)tgC>tgT	p.C435C		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	435										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GCATTCAACAGCAGTATTGAT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	28	31			NA	NA	1		NA											NA				12884806		692	1590	2282	SO:0001819	synonymous_variant			AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810	440560	440560		-	14086	protein-coding gene	gene with protein product					NA		Standard	XM_496341	XM_006710645	NA	Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.1305C>T	1.37:g.12884806G>A		NA		37	CCDS53268.1																																																																																			PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding			-	ENST00000535591.1	Silent	SNP	1 : 12884806 - 12884806 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	726	76
ADARB2	105	broad.mit.edu	37	10	1230812	1230812	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1230812G>A	ENST00000381312.1	-	9	2357	c.2032C>T	c.(2032-2034)Ctg>Ttg	p.L678L	ADARB2_ENST00000381305.1_Silent_p.L80L|ADARB2_ENST00000381310.3_Silent_p.L187L	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	678	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CTGCCATACAGCCGCGCCCAC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	33	34			NA	NA	10		NA											NA				1230812		2203	4300	6503	SO:0001819	synonymous_variant			AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	105	105	3.5.-.-		227	protein-coding gene	gene with protein product	RED2 homolog (rat)	602065	adenosine deaminase, RNA-specific, B2 (RED2 homolog rat), adenosine deaminase, RNA-specific, B2		NA	9272162, 10836796	Standard	NM_018702	NM_018702	NA	Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.2032C>T	10.37:g.1230812G>A		NA	B2RPJ5|Q5VUT6	37	CCDS7058.1																																																																																			ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046426.1		-	ENST00000381312.1	Silent	SNP	10 : 1230812 - 1230812 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	216	46
RET	5979	broad.mit.edu	37	10	43601943	43601943	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43601943C>A	ENST00000355710.3	+	5	1219	c.987C>A	c.(985-987)ttC>ttA	p.F329L	RET_ENST00000340058.5_Missense_Mutation_p.F329L	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	329					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	AGCAGACCTTCCGGGTGGAAC	0.647		1	T, Mis, N, F	H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6	medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC	medullary thyroid,  papillary thyroid, pheochromocytoma	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	E, O	0													54	46	49			NA	NA	10		NA											NA				43601943		2202	4300	6502	SO:0001583	missense	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731	5979	5979		Cadherins / Cadherin-related	9967	protein-coding gene	gene with protein product	cadherin-related family member 16	164761	multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease 1	HSCR1, MEN2A, MTC1, MEN2B	NA	2687772, 1611909	Standard	NM_020975	NM_020975	NA	Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.987C>A	10.37:g.43601943C>A	ENSP00000347942:p.Phe329Leu	NA	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	37	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593304	0.86953	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;T	0.80304	-1.25;-1.36	5.32	4.41	0.53225	.	0.108147	0.64402	D	0.000002	D	0.86422	0.5929	M	0.63843	1.955	0.54753	D	0.999985	D;D;D	0.76494	0.998;0.997;0.999	D;D;D	0.85130	0.986;0.917;0.997	D	0.84611	0.0678	10	0.30854	T	0.27	.	11.9086	0.52727	0.0:0.9158:0.0:0.0842	.	75;329;329	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	L	329	ENSP00000347942:F329L;ENSP00000344798:F329L	ENSP00000344798:F329L	F	+	3	2	RET	42921949	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.325000	0.33724	1.478000	0.48253	0.563000	0.77884	TTC	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047694.2		+	ENST00000355710.3	Missense_Mutation	SNP	10 : 43601943 - 43601943 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	170	20
ZNF467	168544	broad.mit.edu	37	7	149467528	149467528	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149467528C>T	ENST00000302017.3	-	3	565		c.e3+1		ZNF467_ENST00000484747.1_Splice_Site	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGTTACCTACCTGAGCACAC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	57	57			NA	NA	7		NA											NA				149467528		2203	4300	6503	SO:0001630	splice_region_variant			BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444	168544	168544		Zinc fingers, C2H2-type	23154	protein-coding gene	gene with protein product		614040			NA	12426389	Standard	NM_207336	NM_207336	NA	Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.151+1G>A	7.37:g.149467528C>T		NA		37	CCDS5899.1	.	.	.	.	.	.	.	.	.	.	c	11.35	1.612050	0.28712	.	.	ENSG00000181444	ENST00000484747;ENST00000302017	.	.	.	3.93	3.93	0.45458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4988	0.61442	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF467	149098461	1.000000	0.71417	0.992000	0.48379	0.307000	0.27823	3.805000	0.55575	2.023000	0.59567	0.556000	0.70494	.	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349833.1	Intron	-	ENST00000302017.3	Splice_Site	SNP	7 : 149467528 - 149467528 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	38
LRRC42	115353	broad.mit.edu	37	1	54418090	54418090	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54418090A>C	ENST00000371370.3	+	3	939	c.418A>C	c.(418-420)Aaa>Caa	p.K140Q	LRRC42_ENST00000319223.4_Missense_Mutation_p.K140Q	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	140										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						GGCTTTACAGAAATTCACTGA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	65	65			NA	NA	1		NA											NA				54418090		2203	4300	6503	SO:0001583	missense			AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212	115353	115353			28792	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_052940	NM_001256409	NA	Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.418A>C	1.37:g.54418090A>C	ENSP00000360421:p.Lys140Gln	NA	D3DQ46|Q8N2Q8	37	CCDS585.1	.	.	.	.	.	.	.	.	.	.	A	16.68	3.190926	0.58017	.	.	ENSG00000116212	ENST00000371370;ENST00000371368;ENST00000319223;ENST00000444987	.	.	.	5.52	5.52	0.82312	.	0.113302	0.64402	D	0.000017	T	0.61502	0.2352	N	0.24115	0.695	0.38195	D	0.940032	D;D;D	0.89917	0.998;1.0;0.997	D;D;P	0.74674	0.943;0.984;0.879	T	0.59343	-0.7472	9	0.15952	T	0.53	-17.9803	15.9419	0.79763	1.0:0.0:0.0:0.0	.	140;140;140	E7EP35;A6NL66;Q9Y546	.;.;LRC42_HUMAN	Q	140	.	ENSP00000318185:K140Q	K	+	1	0	LRRC42	54190678	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.195000	0.51013	2.235000	0.73313	0.459000	0.35465	AAA	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000023250.1		+	ENST00000371370.3	Missense_Mutation	SNP	1 : 54418090 - 54418090 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	303	28
BCL2L13	23786	broad.mit.edu	37	22	18171769	18171769	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18171769T>G	ENST00000355028.3	+	4	373	c.247T>G	c.(247-249)Ttt>Gtt	p.F83V	BCL2L13_ENST00000337612.5_Intron|BCL2L13_ENST00000399782.1_Missense_Mutation_p.F83V|BCL2L13_ENST00000418951.2_3'UTR|BCL2L13_ENST00000543133.1_Intron|BCL2L13_ENST00000493680.1_Missense_Mutation_p.F83V|BCL2L13_ENST00000317582.5_Missense_Mutation_p.F83V|BCL2L13_ENST00000538149.1_Intron	NM_001270733.1|NM_001270734.1	NP_001257662.1|NP_001257663.1	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	83					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		CAGCACAGGCTTTGACCGTCA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	88	89			NA	NA	22		NA											NA				18171769		2203	4300	6503	SO:0001583	missense			AF146568	CCDS13746.1, CCDS59447.1, CCDS59448.1, CCDS74810.1, CCDS74811.1, CCDS74812.1, CCDS74813.1, CCDS74814.1	22q11	2014-03-07			ENSG00000099968	ENSG00000099968	23786	23786			17164	protein-coding gene	gene with protein product					NA	11262395, 11381032	Standard	NM_015367	NM_015367	NA	Approved	MIL1, BCL-RAMBO	uc002zmw.4	Q9BXK5	OTTHUMG00000150088	ENST00000355028.3:c.247T>G	22.37:g.18171769T>G	ENSP00000347133:p.Phe83Val	NA	Q96B37|Q96IB7|Q9BY01|Q9HC05|Q9UFE0|Q9UKN3	37	CCDS59447.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.515006	0.85389	.	.	ENSG00000099968	ENST00000399782;ENST00000317582;ENST00000493680;ENST00000355028	T;T;T;T	0.04083	3.71;3.71;3.71;3.71	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.14056	0.0340	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.998	D;D;D	0.83275	0.937;0.996;0.937	T	0.01617	-1.1311	10	0.62326	D	0.03	-18.3954	15.7532	0.78005	0.0:0.0:0.0:1.0	.	83;83;83	E9PDD6;Q9BXK5;Q9BXK5-2	.;B2L13_HUMAN;.	V	83	ENSP00000382682:F83V;ENSP00000318883:F83V;ENSP00000434764:F83V;ENSP00000347133:F83V	ENSP00000318883:F83V	F	+	1	0	BCL2L13	16551769	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.200000	0.77838	2.117000	0.64856	0.460000	0.39030	TTT	BCL2L13-005	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316188.1		+	ENST00000355028.3	Missense_Mutation	SNP	22 : 18171769 - 18171769 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	634	121
CDKL4	344387	broad.mit.edu	37	2	39406330	39406330	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39406330G>A	ENST00000378803.1	-	8	924	c.925C>T	c.(925-927)Cag>Tag	p.Q309*	CDKL4_ENST00000395035.3_Nonsense_Mutation_p.Q309*	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	309						cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				GGAAGTACCTGTTGGCGTCTT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	113	114			NA	NA	2		NA											NA				39406330		2203	4300	6503	SO:0001587	stop_gained				CCDS33184.1	2p22.3	2011-11-04			ENSG00000205111	ENSG00000205111	344387	344387		Cyclin-dependent kinases	19287	protein-coding gene	gene with protein product					NA		Standard	XM_293029	NM_001009565	NA	Approved		uc002rrm.3	Q5MAI5	OTTHUMG00000133574	ENST00000378803.1:c.925C>T	2.37:g.39406330G>A	ENSP00000368080:p.Gln309*	NA		37	CCDS33184.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.337558	0.41398	.	.	ENSG00000205111	ENST00000451199;ENST00000378803;ENST00000395035	.	.	.	5.43	5.43	0.79202	.	0.411149	0.20810	N	0.085268	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-4.6979	14.7501	0.69519	0.0:0.0:1.0:0.0	.	.	.	.	X	91;309;309	.	ENSP00000368080:Q309X	Q	-	1	0	CDKL4	39259834	1.000000	0.71417	1.000000	0.80357	0.070000	0.16714	4.229000	0.58625	2.560000	0.86352	0.655000	0.94253	CAG	CDKL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257676.1		-	ENST00000378803.1	Nonsense_Mutation	SNP	2 : 39406330 - 39406330 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	807	56
NTRK2	4915	broad.mit.edu	37	9	87285823	87285823	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:87285823G>A	ENST00000304053.6	+	2	643	c.160G>A	c.(160-162)Gca>Aca	p.A54T	NTRK2_ENST00000395882.1_Missense_Mutation_p.A54T|NTRK2_ENST00000376213.1_Missense_Mutation_p.A54T|NTRK2_ENST00000277120.3_Missense_Mutation_p.A54T|NTRK2_ENST00000376214.1_Missense_Mutation_p.A54T|NTRK2_ENST00000323115.4_Missense_Mutation_p.A54T|NTRK2_ENST00000376208.1_Missense_Mutation_p.A54T|NTRK2_ENST00000359847.3_Missense_Mutation_p.A54T	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	54	LRRNT.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						TGGCATCGTGGCATTTCCGAG	0.567		NA								TSP Lung(25;0.17)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	91	97			NA	NA	9		NA											NA				87285823		2203	4300	6503	SO:0001583	missense			AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	4915	4915	2.7.10.1	Immunoglobulin superfamily / I-set domain containing	8032	protein-coding gene	gene with protein product		600456			NA	7789988	Standard		NM_001018065	NA	Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000304053.6:c.160G>A	9.37:g.87285823G>A	ENSP00000306167:p.Ala54Thr	NA	B1ANZ4|Q16675|Q8WXJ6	37	CCDS35051.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.271193	0.40194	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000395882;ENST00000376208;ENST00000304053;ENST00000277120;ENST00000323115;ENST00000359847	D;D;D;D;D;D;D;D	0.96491	-4.03;-4.03;-4.03;-4.03;-4.03;-4.03;-4.03;-4.03	5.01	4.12	0.48240	Leucine-rich repeat-containing N-terminal (2);	0.197986	0.42548	D	0.000681	D	0.95856	0.8651	L	0.55481	1.735	0.80722	D	1	P;P;P;P;P;P;P	0.51933	0.937;0.937;0.949;0.923;0.843;0.907;0.937	P;P;P;P;P;P;P	0.61070	0.814;0.814;0.883;0.755;0.487;0.566;0.814	D	0.93206	0.6596	10	0.12766	T	0.61	.	8.3645	0.32378	0.0817:0.0:0.7287:0.1895	.	54;54;54;54;54;100;54	Q16620-3;Q16620-5;Q5VWE5;Q16620;Q16620-4;Q59GJ1;Q16620-2	.;.;.;NTRK2_HUMAN;.;.;.	T	54	ENSP00000365387:A54T;ENSP00000365386:A54T;ENSP00000379221:A54T;ENSP00000365381:A54T;ENSP00000306167:A54T;ENSP00000277120:A54T;ENSP00000314586:A54T;ENSP00000352906:A54T	ENSP00000277120:A54T	A	+	1	0	NTRK2	86475643	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.171000	0.50824	1.341000	0.45600	0.561000	0.74099	GCA	NTRK2-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052884.1		+	ENST00000304053.6	Missense_Mutation	SNP	9 : 87285823 - 87285823 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	393	25
ATCAY	85300	broad.mit.edu	37	19	3917763	3917763	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3917763C>T	ENST00000450849.2	+	10	1456	c.989C>T	c.(988-990)gCc>gTc	p.A330V	ATCAY_ENST00000398448.3_Missense_Mutation_p.A336V|ATCAY_ENST00000301260.6_Missense_Mutation_p.A330V|ATCAY_ENST00000600960.1_Missense_Mutation_p.A330V	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	330					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		AGACTGAAGGCCAGGAGGGAG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	78	76			NA	NA	19		NA											NA				3917763		1906	4105	6011	SO:0001583	missense				CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654	85300	85300			779	protein-coding gene	gene with protein product	Cayman ataxia, caytaxin	608179			NA	8845847, 14556008	Standard		NM_033064	NA	Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.989C>T	19.37:g.3917763C>T	ENSP00000390941:p.Ala330Val	NA	Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	37	CCDS45923.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992709	0.54041	.	.	ENSG00000167654	ENST00000450849;ENST00000301260;ENST00000357694;ENST00000398448;ENST00000539301	T;T;T	0.38560	1.16;1.16;1.13	4.75	4.75	0.60458	.	0.180274	0.48286	D	0.000190	T	0.35682	0.0940	L	0.29908	0.895	0.45822	D	0.998699	B;B;B	0.25351	0.124;0.095;0.058	B;B;B	0.27796	0.055;0.083;0.038	T	0.20874	-1.0262	10	0.51188	T	0.08	.	17.0755	0.86585	0.0:1.0:0.0:0.0	.	336;330;330	B4DS11;Q86WG3-3;Q86WG3	.;.;ATCAY_HUMAN	V	330;330;330;336;308	ENSP00000390941:A330V;ENSP00000301260:A330V;ENSP00000381466:A336V	ENSP00000301260:A330V	A	+	2	0	ATCAY	3868763	1.000000	0.71417	0.992000	0.48379	0.627000	0.37826	3.283000	0.51701	2.352000	0.79861	0.313000	0.20887	GCC	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457872.2		+	ENST00000450849.2	Missense_Mutation	SNP	19 : 3917763 - 3917763 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	428	58
RHBDF1	64285	broad.mit.edu	37	16	108725	108725	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:108725C>T	ENST00000262316.6	-	18	2324	c.2182G>A	c.(2182-2184)Gcc>Acc	p.A728T		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	728					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				AAGAGGCAGGCCAGGATGCCG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	24	23			NA	NA	16		NA											NA				108725		2202	4299	6501	SO:0001583	missense			BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384	64285	64285			20561	protein-coding gene	gene with protein product		614403	chromosome 16 open reading frame 8, rhomboid family 1 (Drosophila)	C16orf8	NA	8318735, 15965977	Standard	NM_022450	NM_022450	NA	Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.2182G>A	16.37:g.108725C>T	ENSP00000262316:p.Ala728Thr	NA	Q1W6H2|Q4TT59|Q96S34|Q9H6E1	37	CCDS32344.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	30|30	5.049882|5.049882	0.93740|0.93740	.|.	.|.	ENSG00000007384|ENSG00000007384	ENST00000262316|ENST00000448893	T|.	0.12984|.	2.63|.	5.16|5.16	5.16|5.16	0.70880|0.70880	Peptidase S54, rhomboid domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.84960|.	0.5588|.	M|M	0.90814|0.90814	3.15|3.15	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	D|.	0.87865|.	0.2667|.	10|.	0.87932|.	D|.	0|.	-34.8431|-34.8431	17.997|17.997	0.89187|0.89187	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	728|.	Q96CC6|.	RHDF1_HUMAN|.	T|X	728|104	ENSP00000262316:A728T|.	ENSP00000262316:A728T|.	A|W	-|-	1|3	0|0	RHBDF1|RHBDF1	48725|48725	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.928000|0.928000	0.56348|0.56348	5.945000|5.945000	0.70226|0.70226	2.559000|2.559000	0.86315|0.86315	0.655000|0.655000	0.94253|0.94253	GCC|TGG	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000134178.2		-	ENST00000262316.6	Missense_Mutation	SNP	16 : 108725 - 108725 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	185	19
KCTD11	147040	broad.mit.edu	37	17	7256385	7256385	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7256385C>A	ENST00000333751.3	+	1	1178	c.124C>A	c.(124-126)Ctg>Atg	p.L42M	RP11-542C16.1_ENST00000572417.1_RNA	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	42	BTB.				cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				TTTCCTGAGGCTGGGCCGCCT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	26	26			NA	NA	17		NA											NA				7256385		2203	4300	6503	SO:0001583	missense			AK056227	CCDS32545.1	17p13.2	2013-06-20	2013-06-20	2003-11-26	ENSG00000213859	ENSG00000213859	147040	147040			21302	protein-coding gene	gene with protein product		609848	chromosome 17 open reading frame 36, potassium channel tetramerisation domain containing 11	C17orf36	NA	12186855, 21472142	Standard	NM_001002914	NM_001002914	NA	Approved	REN, KCASH1	uc002gge.4	Q693B1	OTTHUMG00000132061	ENST00000333751.3:c.124C>A	17.37:g.7256385C>A	ENSP00000328352:p.Leu42Met	NA	B3KPE0	37	CCDS32545.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.243281	0.58995	.	.	ENSG00000213859	ENST00000333751	T	0.76578	-1.03	5.27	4.29	0.51040	BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.218004	0.22695	U	0.056762	T	0.81517	0.4839	L	0.49778	1.585	0.30483	N	0.772147	D	0.65815	0.995	D	0.68621	0.959	T	0.78081	-0.2343	10	0.59425	D	0.04	.	7.1681	0.25702	0.1675:0.7433:0.0:0.0891	.	42	Q693B1	KCD11_HUMAN	M	42	ENSP00000328352:L42M	ENSP00000328352:L42M	L	+	1	2	KCTD11	7197109	0.002000	0.14202	1.000000	0.80357	0.637000	0.38172	0.356000	0.20181	2.466000	0.83321	0.655000	0.94253	CTG	KCTD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255084.2		+	ENST00000333751.3	Missense_Mutation	SNP	17 : 7256385 - 7256385 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	218	42
OR4D11	219986	broad.mit.edu	37	11	59271327	59271327	+	Silent	SNP	C	C	A	rs141756362		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59271327C>A	ENST00000313253.1	+	1	279	c.279C>A	c.(277-279)tcC>tcA	p.S93S		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						AGACCATATCCTATACAAGCT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													188	178	181			NA	NA	11		NA											NA				59271327		2201	4295	6496	SO:0001819	synonymous_variant			AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200	219986	219986		GPCR / Class A : Olfactory receptors	15174	protein-coding gene	gene with protein product				OR4D11P	NA		Standard	NM_001004706	NM_001004706	NA	Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.279C>A	11.37:g.59271327C>A		NA		37	CCDS31563.1																																																																																			OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394236.1		+	ENST00000313253.1	Silent	SNP	11 : 59271327 - 59271327 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1108	212
STRC	161497	broad.mit.edu	37	15	43910165	43910165	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43910165C>T	ENST00000450892.2	-	2	531	c.454G>A	c.(454-456)Ggc>Agc	p.G152S	STRC_ENST00000541030.1_5'UTR	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	152					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GTAGGGGGGCCCCCAGGAACT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	65	58			NA	NA	15		NA											NA				43910165		2196	4296	6492	SO:0001583	missense			BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866	161497	161497			16035	protein-coding gene	gene with protein product		606440		DFNB16	NA	11687802, 9429146	Standard	NM_153700	NM_153700	NA	Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.454G>A	15.37:g.43910165C>T	ENSP00000401513:p.Gly152Ser	NA		37	CCDS10098.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795824	0.70452	.	.	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000456110;ENST00000432436	T	0.78364	-1.17	5.05	5.05	0.67936	.	0.295993	0.27518	N	0.019002	T	0.66538	0.2799	N	0.24115	0.695	0.80722	D	1	P;P	0.44139	0.827;0.827	B;B	0.41510	0.359;0.359	T	0.66810	-0.5829	10	0.31617	T	0.26	-12.2091	13.9904	0.64362	0.0:1.0:0.0:0.0	.	152;152	E9PBT5;Q7RTU9	.;STRC_HUMAN	S	152;152;152;92	ENSP00000401513:G152S	ENSP00000299992:G152S	G	-	1	0	STRC	41697457	0.541000	0.26417	0.574000	0.28523	0.855000	0.48748	5.003000	0.63959	2.360000	0.80028	0.632000	0.83419	GGC	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000133140.1		-	ENST00000450892.2	Missense_Mutation	SNP	15 : 43910165 - 43910165 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	494	55
COL24A1	255631	broad.mit.edu	37	1	86590991	86590991	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86590991G>A	ENST00000370571.2	-	3	1394	c.1028C>T	c.(1027-1029)aCt>aTt	p.T343I	COL24A1_ENST00000436319.1_Missense_Mutation_p.T343I	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	343					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATTTGTCTGAGTATCTTCCTC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	112	116			NA	NA	1		NA											NA				86590991		1925	4137	6062	SO:0001583	missense			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502	255631	255631		Collagens	20821	protein-coding gene	gene with protein product		610025			NA		Standard	NM_152890	NM_152890	NA	Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1028C>T	1.37:g.86590991G>A	ENSP00000359603:p.Thr343Ile	NA	C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	37	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.413974	0.01145	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.94417	-3.42;-3.42	4.84	-2.47	0.06442	.	1.259990	0.05942	N	0.637237	T	0.73644	0.3613	N	0.12182	0.205	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.001	T	0.66610	-0.5880	10	0.19590	T	0.45	.	6.7819	0.23650	0.3372:0.2986:0.3642:0.0	.	343;343	F8WDM8;Q17RW2	.;COOA1_HUMAN	I	343	ENSP00000359603:T343I;ENSP00000392531:T343I	ENSP00000359603:T343I	T	-	2	0	COL24A1	86363579	0.000000	0.05858	0.003000	0.11579	0.123000	0.20343	-1.017000	0.03630	-0.139000	0.11414	0.563000	0.77884	ACT	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029335.4		-	ENST00000370571.2	Missense_Mutation	SNP	1 : 86590991 - 86590991 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	415	96
HNRNPR	10236	broad.mit.edu	37	1	23650226	23650226	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23650226C>A	ENST00000478691.1	-	5	467		c.e5-1		HNRNPR_ENST00000374616.3_Splice_Site|HNRNPR_ENST00000302271.6_Splice_Site|HNRNPR_ENST00000426846.2_Intron|HNRNPR_ENST00000374612.1_Splice_Site|HNRNPR_ENST00000427764.2_Splice_Site|HNRNPR_ENST00000606561.1_Splice_Site	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	NA						catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		CTACAAATACCTGAAATAAAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	68	66			NA	NA	1		NA											NA				23650226		2203	4300	6503	SO:0001630	splice_region_variant			AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944	10236	10236		RNA binding motif (RRM) containing	5047	protein-coding gene	gene with protein product		607201		HNRPR	NA	9421497	Standard	NM_005826	XM_005245711	NA	Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000478691.1:c.196-1G>T	1.37:g.23650226C>A		NA	Q5TEH1|Q9BV64	37		.	.	.	.	.	.	.	.	.	.	C	19.15	3.771377	0.69992	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764	.	.	.	5.14	4.22	0.49857	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5575	0.56263	0.0:0.9183:0.0:0.0817	.	.	.	.	.	-1	.	.	.	-	.	.	HNRNPR	23522813	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.684000	0.84104	1.298000	0.44778	0.561000	0.74099	.	HNRNPR-004	PUTATIVE	non_canonical_conserved|upstream_uORF|basic	protein_coding	NA	protein_coding	OTTHUMT00000008890.2	Intron	-	ENST00000478691.1	Splice_Site	SNP	1 : 23650226 - 23650226 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	29
LRRC66	339977	broad.mit.edu	37	4	52862271	52862271	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52862271G>A	ENST00000343457.3	-	4	923	c.917C>T	c.(916-918)cCt>cTt	p.P306L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	306						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ATGAATGGGAGGAAGGCGGGT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	50	51			NA	NA	4		NA											NA				52862271		1840	4096	5936	SO:0001583	missense			BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993	339977	339977			34299	protein-coding gene	gene with protein product					NA		Standard	NM_001024611	XM_005265739	NA	Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.917C>T	4.37:g.52862271G>A	ENSP00000341944:p.Pro306Leu	NA		37	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.719568	0.48728	.	.	ENSG00000188993	ENST00000343457	T	0.36157	1.27	4.24	1.46	0.22682	.	0.353469	0.20919	N	0.083305	T	0.22898	0.0553	N	0.24115	0.695	0.20563	N	0.999881	B	0.25272	0.122	B	0.29267	0.1	T	0.17531	-1.0366	10	0.40728	T	0.16	-2.7327	7.8087	0.29217	0.2827:0.0:0.7173:0.0	.	306	Q68CR7	LRC66_HUMAN	L	306	ENSP00000341944:P306L	ENSP00000341944:P306L	P	-	2	0	LRRC66	52557028	0.933000	0.31639	0.006000	0.13384	0.007000	0.05969	1.398000	0.34554	0.136000	0.18733	0.467000	0.42956	CCT	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361473.1		-	ENST00000343457.3	Missense_Mutation	SNP	4 : 52862271 - 52862271 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	335	75
PPIG	9360	broad.mit.edu	37	2	170493717	170493717	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170493717A>G	ENST00000260970.3	+	14	2169	c.1949A>G	c.(1948-1950)aAg>aGg	p.K650R	PPIG_ENST00000448752.2_Missense_Mutation_p.K650R|PPIG_ENST00000409714.3_Missense_Mutation_p.K635R	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	650					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CAAGAGAGTAAGAGCTCACAC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	72	71			NA	NA	2		NA											NA				170493717		2203	4300	6503	SO:0001583	missense			X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	9360	9360	6.1.1.16		14650	protein-coding gene	gene with protein product	SR-related CTD-associated factor 10	606093	peptidyl-prolyl isomerase G (cyclophilin G)		NA	8973360, 9153302	Standard		NM_004792	NA	Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.1949A>G	2.37:g.170493717A>G	ENSP00000260970:p.Lys650Arg	NA	D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	37	CCDS2235.1	.	.	.	.	.	.	.	.	.	.	A	6.780	0.512835	0.12944	.	.	ENSG00000138398	ENST00000260970;ENST00000409714;ENST00000448752	T;T;T	0.16196	2.36;2.36;2.36	5.51	1.83	0.25207	.	0.288558	0.31963	N	0.006783	T	0.09069	0.0224	N	0.14661	0.345	0.30690	N	0.751441	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.14144	-1.0483	10	0.34782	T	0.22	-6.7652	8.7238	0.34456	0.6299:0.0:0.3701:0.0	.	635;635;650	E9PG73;Q2NKQ6;Q13427	.;.;PPIG_HUMAN	R	650;635;650	ENSP00000260970:K650R;ENSP00000386245:K635R;ENSP00000407083:K650R	ENSP00000260970:K650R	K	+	2	0	PPIG	170201963	1.000000	0.71417	0.999000	0.59377	0.677000	0.39632	1.112000	0.31172	0.070000	0.16634	0.482000	0.46254	AAG	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255264.2		+	ENST00000260970.3	Missense_Mutation	SNP	2 : 170493717 - 170493717 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	213	39
TRAK1	22906	broad.mit.edu	37	3	42167076	42167076	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42167076G>A	ENST00000327628.5	+	2	656	c.256G>A	c.(256-258)Gag>Aag	p.E86K	TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	86	HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CCTCACAACCGAGCAAATTGA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(44;195 884 22595 31865 41850)							NA				0								G	LYS/GLU	1,3909		0,1,1954	135	126	129		256	5.7	1	3		129	0,8286		0,0,4143	no	missense	TRAK1	NM_001042646.1	56	0,1,6097	AA,AG,GG	NA	0.0,0.0256,0.0082	probably-damaging	86/954	42167076	1,12195	1955	4143	6098	SO:0001583	missense				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606	22906	22906			29947	protein-coding gene	gene with protein product	OGT(O Glc NAc transferase) interacting protein 106 KDa, O-linked N-acetylglucosamine transferase interacting protein 106, milton homolog 1 (Drosophila)	608112			NA	10470851, 12435728, 16380713, 20230862	Standard	NM_014965	NM_014965	NA	Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.256G>A	3.37:g.42167076G>A	ENSP00000328998:p.Glu86Lys	NA	Q63HR0|Q96B69	37	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	G	33	5.246109	0.95272	2.56E-4	0.0	ENSG00000182606	ENST00000327628;ENST00000543338	T	0.18338	2.22	5.73	5.73	0.89815	.	0.135083	0.47455	D	0.000222	T	0.40398	0.1115	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	T	0.01925	-1.1246	10	0.24483	T	0.36	.	18.8873	0.92383	0.0:0.0:1.0:0.0	.	86;86	B7Z347;Q9UPV9	.;TRAK1_HUMAN	K	86	ENSP00000328998:E86K	ENSP00000328998:E86K	E	+	1	0	TRAK1	42142080	1.000000	0.71417	0.976000	0.42696	0.970000	0.65996	9.869000	0.99810	2.708000	0.92522	0.655000	0.94253	GAG	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343413.1		+	ENST00000327628.5	Missense_Mutation	SNP	3 : 42167076 - 42167076 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	564	17
COL5A2	1290	broad.mit.edu	37	2	189917698	189917698	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189917698C>T	ENST00000374866.3	-	39	2874	c.2600G>A	c.(2599-2601)gGa>gAa	p.G867E		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	867					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCCCTTCTGTCCTGGCTCTCC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	84	87			NA	NA	2		NA											NA				189917698		2203	4300	6503	SO:0001583	missense			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262	1290	1290		Collagens	2210	protein-coding gene	gene with protein product	AB collagen	120190			NA	1572660	Standard	NM_000393	NM_000393	NA	Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.2600G>A	2.37:g.189917698C>T	ENSP00000364000:p.Gly867Glu	NA	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	37	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371237	0.82573	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.99619	-6.28	5.3	5.3	0.74995	.	0.000000	0.49916	D	0.000127	D	0.99775	0.9907	H	0.95114	3.625	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;1.0	D	0.97205	0.9867	9	.	.	.	.	19.3175	0.94220	0.0:1.0:0.0:0.0	.	507;867	Q5PR22;P05997	.;CO5A2_HUMAN	E	867;507	ENSP00000364000:G867E	.	G	-	2	0	COL5A2	189625943	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.770000	0.85390	2.631000	0.89168	0.585000	0.79938	GGA	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313523.1		-	ENST00000374866.3	Missense_Mutation	SNP	2 : 189917698 - 189917698 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	250	34
P2RX5-TAX1BP3	100533970	broad.mit.edu	37	17	3595050	3595050	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3595050T>C	ENST00000550383.1	-	2	364	c.176A>G	c.(175-177)gAc>gGc	p.D59G	P2RX5_ENST00000551178.1_Missense_Mutation_p.D59G|P2RX5_ENST00000345901.3_Missense_Mutation_p.D59G|P2RX5_ENST00000547178.1_Missense_Mutation_p.D59G|P2RX5_ENST00000435558.1_Missense_Mutation_p.D59G|P2RX5_ENST00000225328.5_Missense_Mutation_p.D59G|P2RX5_ENST00000552050.1_Missense_Mutation_p.D23G|P2RX5_ENST00000552276.1_Missense_Mutation_p.D59G					P2RX5-TAX1BP3 readthrough (NMD candidate)	NA											NA						CAGGGAGGTGTCGACGTCTTG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													183	158	167			NA	NA	17		NA											NA				3595050		2203	4300	6503	SO:0001583	missense					17p13.2	2013-09-25			ENSG00000257950	ENSG00000257950	100533970	100533970			49191	other	readthrough					NA		Standard		NR_037928	NA	Approved				OTTHUMG00000169623	ENST00000550383.1:c.176A>G	17.37:g.3595050T>C	ENSP00000455681:p.Asp59Gly	NA		37		.	.	.	.	.	.	.	.	.	.	T	24.8	4.565856	0.86439	.	.	ENSG00000083454	ENST00000435558;ENST00000551178;ENST00000547178;ENST00000225328;ENST00000345901;ENST00000552050;ENST00000440619	T;T;T;T;T;T	0.06849	3.25;3.25;3.25;3.25;3.25;3.25	5.13	5.13	0.70059	.	.	.	.	.	T	0.32041	0.0816	M	0.83953	2.67	0.58432	D	0.999994	D;D;D;D;D;D	0.89917	1.0;0.995;0.997;0.995;0.997;0.997	D;D;D;D;D;D	0.91635	0.999;0.917;0.974;0.917;0.991;0.974	T	0.11275	-1.0594	9	0.87932	D	0	-13.61	14.479	0.67567	0.0:0.0:0.0:1.0	.	23;59;59;59;59;59	B4DEG2;G5E981;Q93086-1;Q93086-2;Q93086;Q93086-4	.;.;.;.;P2RX5_HUMAN;.	G	59;59;59;59;59;23;59	ENSP00000415370:D59G;ENSP00000447545:D59G;ENSP00000448355:D59G;ENSP00000225328:D59G;ENSP00000342161:D59G;ENSP00000450006:D23G	ENSP00000225328:D59G	D	-	2	0	P2RX5	3541799	1.000000	0.71417	0.995000	0.50966	0.796000	0.44982	8.001000	0.88508	2.079000	0.62486	0.456000	0.33151	GAC	P2RX5-TAX1BP3-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000405135.1		-	ENST00000550383.1	Missense_Mutation	SNP	17 : 3595050 - 3595050 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	952	157
SEC24C	9632	broad.mit.edu	37	10	75528855	75528855	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75528855C>A	ENST00000339365.2	+	18	2531	c.2369C>A	c.(2368-2370)aCt>aAt	p.T790N	SEC24C_ENST00000345254.4_Missense_Mutation_p.T790N|SEC24C_ENST00000411652.2_Missense_Mutation_p.T671N|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000535742.1_Missense_Mutation_p.T38N|SEC24C_ENST00000540668.1_Missense_Mutation_p.T38N	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	790					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					AAAACAGTGACTGTGGAGTTC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	75	79			NA	NA	10		NA											NA				75528855		2203	4300	6503	SO:0001583	missense			D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986	9632	9632			10705	protein-coding gene	gene with protein product		607185	SEC24 (S. cerevisiae) related gene family, member C, SEC24 family, member C (S. cerevisiae)		NA	10214955, 7584044	Standard		NM_004922	NA	Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.2369C>A	10.37:g.75528855C>A	ENSP00000343405:p.Thr790Asn	NA	Q8WV25	37	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631187	0.87660	.	.	ENSG00000176986	ENST00000535742;ENST00000345254;ENST00000540668;ENST00000339365;ENST00000411652	T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92	5.72	5.72	0.89469	Sec23/Sec24 beta-sandwich (1);	0.000000	0.85682	D	0.000000	D	0.83562	0.5281	M	0.79475	2.455	0.80722	D	1	P;P;P	0.46512	0.77;0.853;0.879	B;B;P	0.51701	0.258;0.444;0.677	D	0.84817	0.0794	10	0.66056	D	0.02	-13.5358	19.8791	0.96888	0.0:1.0:0.0:0.0	.	671;790;790	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	N	38;790;38;790;671	ENSP00000446174:T38N;ENSP00000321845:T790N;ENSP00000445023:T38N;ENSP00000343405:T790N;ENSP00000402913:T671N	ENSP00000343405:T790N	T	+	2	0	SEC24C	75198861	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.818000	0.86416	2.706000	0.92434	0.467000	0.42956	ACT	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048679.1		+	ENST00000339365.2	Missense_Mutation	SNP	10 : 75528855 - 75528855 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	212	35
FAM186B	84070	broad.mit.edu	37	12	49993797	49993797	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49993797C>A	ENST00000257894.2	-	4	1787	c.1626G>T	c.(1624-1626)gaG>gaT	p.E542D	PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000551047.1_Intron|FAM186B_ENST00000544141.1_Missense_Mutation_p.E452D	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	542						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCCGTGGGCTCTCCTGCTCCT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	78	80			NA	NA	12		NA											NA				49993797		2203	4300	6503	SO:0001583	missense			AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436	84070	84070			25296	protein-coding gene	gene with protein product			chromosome 12 open reading frame 25	C12orf25	NA	11230166	Standard	NM_032130	NM_032130	NA	Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.1626G>T	12.37:g.49993797C>A	ENSP00000257894:p.Glu542Asp	NA	Q8TCP7|Q9H0L3	37	CCDS8788.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.706919	0.30232	.	.	ENSG00000135436	ENST00000544141;ENST00000532262;ENST00000257894	T;T;T	0.12361	2.69;2.69;2.89	5.1	2.24	0.28232	.	1.912250	0.02624	N	0.103495	T	0.10852	0.0265	N	0.22421	0.69	0.09310	N	1	B;B	0.32160	0.358;0.187	B;B	0.32762	0.152;0.106	T	0.29181	-1.0020	9	.	.	.	-0.2479	5.739	0.18083	0.0:0.6614:0.1595:0.1791	.	452;542	B4DZ15;Q8IYM0	.;F186B_HUMAN	D	452;155;542	ENSP00000438569:E452D;ENSP00000436995:E155D;ENSP00000257894:E542D	.	E	-	3	2	FAM186B	48280064	0.001000	0.12720	0.000000	0.03702	0.441000	0.31987	0.996000	0.29719	0.252000	0.21531	0.563000	0.77884	GAG	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394583.2		-	ENST00000257894.2	Missense_Mutation	SNP	12 : 49993797 - 49993797 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	464	89
ATF3	467	broad.mit.edu	37	1	212791502	212791502	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212791502C>T	ENST00000341491.4	+	3	539	c.274C>T	c.(274-276)Cga>Tga	p.R92*	ATF3_ENST00000366987.2_Nonsense_Mutation_p.R92*|ATF3_ENST00000336937.4_Nonsense_Mutation_p.R63*|ATF3_ENST00000366983.1_Nonsense_Mutation_p.R92*|ATF3_ENST00000366985.1_Nonsense_Mutation_p.R35*|ATF3_ENST00000492118.1_Intron	NM_001040619.2|NM_001206488.2|NM_001674.3	NP_001035709.1|NP_001193417.2|NP_001665.1	P18847	ATF3_HUMAN	activating transcription factor 3	92						nucleolus	identical protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6				OV - Ovarian serous cystadenocarcinoma(81;0.00628)|all cancers(67;0.0097)|GBM - Glioblastoma multiforme(131;0.0388)|Epithelial(68;0.0933)		GAAAAAGAGGCGACGAGAAAG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	133	134			NA	NA	1		NA											NA				212791502		2203	4300	6503	SO:0001587	stop_gained			L19871	CCDS1506.1, CCDS41464.1, CCDS55688.1, CCDS58059.1	1q32.3	2013-01-10			ENSG00000162772	ENSG00000162772	467	467		basic leucine zipper proteins	785	protein-coding gene	gene with protein product		603148			NA	7515060	Standard	NM_001674	NM_001674	NA	Approved		uc021pit.1	P18847	OTTHUMG00000036747	ENST00000341491.4:c.274C>T	1.37:g.212791502C>T	ENSP00000344352:p.Arg92*	NA		37	CCDS1506.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769942	0.90020	.	.	ENSG00000162772	ENST00000366981;ENST00000366987;ENST00000341491;ENST00000366985;ENST00000366983;ENST00000336937	.	.	.	5.51	3.62	0.41486	.	0.103434	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5233	14.2137	0.65779	0.4477:0.5523:0.0:0.0	.	.	.	.	X	92;92;92;35;92;63	.	ENSP00000336908:R63X	R	+	1	2	ATF3	210858125	0.803000	0.28956	1.000000	0.80357	0.644000	0.38419	-0.110000	0.10824	0.779000	0.33543	-1.312000	0.01307	CGA	ATF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089296.1		+	ENST00000341491.4	Nonsense_Mutation	SNP	1 : 212791502 - 212791502 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	513	40
FYCO1	79443	broad.mit.edu	37	3	46009762	46009762	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46009762C>T	ENST00000296137.2	-	8	1269	c.1064G>A	c.(1063-1065)cGg>cAg	p.R355Q	FYCO1_ENST00000535325.1_Missense_Mutation_p.R355Q	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	355					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CAGTGAGTCCCGTGTGGCCTC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	80	80			NA	NA	3		NA											NA				46009762		2203	4300	6503	SO:0001583	missense			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820	79443	79443		Zinc fingers, FYVE domain containing	14673	protein-coding gene	gene with protein product		607182			NA	11896456	Standard	NM_024513	NM_024513	NA	Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.1064G>A	3.37:g.46009762C>T	ENSP00000296137:p.Arg355Gln	NA	Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	37	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	C	6.474	0.455606	0.12283	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.22539	1.97;1.95	5.66	1.48	0.22813	.	0.449418	0.23916	N	0.043297	T	0.18551	0.0445	M	0.63843	1.955	0.09310	N	1	D;D	0.57257	0.979;0.979	B;B	0.42112	0.376;0.333	T	0.23619	-1.0183	10	0.19147	T	0.46	-19.4947	8.2526	0.31735	0.0:0.6544:0.0:0.3456	.	355;355	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	Q	355	ENSP00000296137:R355Q;ENSP00000441178:R355Q	ENSP00000296137:R355Q	R	-	2	0	FYCO1	45984766	0.000000	0.05858	0.017000	0.16124	0.071000	0.16799	-1.523000	0.02235	-0.020000	0.14032	0.655000	0.94253	CGG	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257320.2		-	ENST00000296137.2	Missense_Mutation	SNP	3 : 46009762 - 46009762 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	787	159
CCDC65	85478	broad.mit.edu	37	12	49312112	49312112	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49312112C>T	ENST00000266984.5	+	5	891	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L	RP11-302B13.5_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Silent_p.L222L			Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	222										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AGTAGAAGATCTGTGGAGAAA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	124	124			NA	NA	12		NA											NA				49312112		2203	4300	6503	SO:0001819	synonymous_variant				CCDS8772.1	12q13.12	2014-07-18			ENSG00000139537	ENSG00000139537	85478	85478			29937	protein-coding gene	gene with protein product		611088			NA	17089017, 21700706	Standard	NM_033124	NM_033124	NA	Approved	NYD-SP28, FLJ35732, FAP250, CILD27	uc001rso.3	Q8IXS2		ENST00000266984.5:c.664C>T	12.37:g.49312112C>T		NA	A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	37																																																																																				CCDC65-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000408919.1		+	ENST00000266984.5	Silent	SNP	12 : 49312112 - 49312112 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	596	119
RINT1	60561	broad.mit.edu	37	7	105190563	105190563	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:105190563A>C	ENST00000257700.2	+	8	1289	c.1058A>C	c.(1057-1059)gAg>gCg	p.E353A		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	353	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTTCTGGATGAGAAGATTCAG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	123	123			NA	NA	7		NA											NA				105190563		2203	4300	6503	SO:0001583	missense			AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249	60561	60561			21876	protein-coding gene	gene with protein product		610089			NA	11096100, 15029241	Standard	NM_021930	NM_021930	NA	Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.1058A>C	7.37:g.105190563A>C	ENSP00000257700:p.Glu353Ala	NA	Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	37	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	A	17.49	3.402508	0.62288	.	.	ENSG00000135249	ENST00000257700	T	0.33865	1.39	5.5	5.5	0.81552	.	0.046124	0.85682	D	0.000000	T	0.28797	0.0714	L	0.44542	1.39	0.80722	D	1	P	0.39576	0.679	B	0.34452	0.183	T	0.06588	-1.0818	10	0.13108	T	0.6	-20.0302	15.8976	0.79346	1.0:0.0:0.0:0.0	.	353	Q6NUQ1	RINT1_HUMAN	A	353	ENSP00000257700:E353A	ENSP00000257700:E353A	E	+	2	0	RINT1	104977799	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.706000	0.91362	2.212000	0.71576	0.528000	0.53228	GAG	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348686.1		+	ENST00000257700.2	Missense_Mutation	SNP	7 : 105190563 - 105190563 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	409	64
OARD1	221443	broad.mit.edu	37	6	41036622	41036622	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41036622G>A	ENST00000486443.1	-	4	480	c.197C>T	c.(196-198)tCt>tTt	p.S66F	OARD1_ENST00000480585.1_Intron|OARD1_ENST00000468811.1_Missense_Mutation_p.S105F|OARD1_ENST00000424266.2_Missense_Mutation_p.S105F|OARD1_ENST00000373154.2_Intron|OARD1_ENST00000464633.1_Intron|OARD1_ENST00000463088.1_Missense_Mutation_p.S105F|OARD1_ENST00000482515.1_Intron|OARD1_ENST00000479950.1_Missense_Mutation_p.S105F|OARD1_ENST00000244558.9_Intron					O-acyl-ADP-ribose deacylase 1	NA											NA						CAGACAATGAGACTTCATTGC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	112	112			NA	NA	6		NA											NA				41036622		2203	4300	6503	SO:0001583	missense			AJ420538	CCDS34445.1	6p21.1	2013-03-14	2012-11-06	2012-11-06	ENSG00000124596	ENSG00000124596	221443	221443			21257	protein-coding gene	gene with protein product	terminal ADP-ribose protein glycohydrolase 1	614393	chromosome 6 open reading frame 130	C6orf130	NA	21849506	Standard	NM_145063	NM_145063	NA	Approved	MGC19570, dJ34B21.3, TARG1	uc003opm.3	Q9Y530	OTTHUMG00000014667	ENST00000486443.1:c.197C>T	6.37:g.41036622G>A	ENSP00000419175:p.Ser66Phe	NA		37		.	.	.	.	.	.	.	.	.	.	G	15.87	2.960470	0.53400	.	.	ENSG00000124596	ENST00000479950;ENST00000463088;ENST00000424266;ENST00000468811;ENST00000486443;ENST00000488238	T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9	6.08	3.27	0.37495	Appr-1-p processing (2);	0.444150	0.26424	N	0.024442	T	0.11239	0.0274	L	0.56769	1.78	0.80722	D	1	P	0.36222	0.544	B	0.30646	0.118	T	0.03166	-1.1065	10	0.66056	D	0.02	0.0645	9.3006	0.37842	0.0723:0.2752:0.6525:0.0	.	105	Q9Y530	CF130_HUMAN	F	105;105;105;105;66;105	ENSP00000420484:S105F;ENSP00000420193:S105F;ENSP00000416829:S105F;ENSP00000420601:S105F;ENSP00000419175:S66F;ENSP00000420414:S105F	ENSP00000416829:S105F	S	-	2	0	C6orf130	41144600	0.911000	0.30947	0.998000	0.56505	0.998000	0.95712	1.600000	0.36762	0.424000	0.26061	0.655000	0.94253	TCT	OARD1-008	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000357768.2		-	ENST00000486443.1	Missense_Mutation	SNP	6 : 41036622 - 41036622 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	209	31
ELTD1	64123	broad.mit.edu	37	1	79356886	79356886	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:79356886A>G	ENST00000370742.3	-	15	2089	c.2026T>C	c.(2026-2028)Tac>Cac	p.Y676H		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	676					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AACAATCTGTAATATTCTTCT	0.264		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	69	71			NA	NA	1		NA											NA				79356886		1784	4048	5832	SO:0001583	missense			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618	64123	64123		-, GPCR / Class B : Orphans	20822	protein-coding gene	gene with protein product					NA	11050079	Standard	NM_022159	NM_022159	NA	Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.2026T>C	1.37:g.79356886A>G	ENSP00000359778:p.Tyr676His	NA	B1AR71|Q5KU34	37	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	A	12.55	1.971281	0.34754	.	.	ENSG00000162618	ENST00000370742;ENST00000401034	T;T	0.42131	0.98;0.98	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.17280	0.0415	L	0.36672	1.1	0.45852	D	0.998713	B	0.20164	0.042	B	0.26094	0.066	T	0.08472	-1.0720	9	.	.	.	.	9.2697	0.37664	0.919:0.0:0.081:0.0	.	676	Q9HBW9	ELTD1_HUMAN	H	676;134	ENSP00000359778:Y676H;ENSP00000383813:Y134H	.	Y	-	1	0	ELTD1	79129474	1.000000	0.71417	0.997000	0.53966	0.184000	0.23303	3.996000	0.57009	2.035000	0.60131	0.533000	0.62120	TAC	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026859.1		-	ENST00000370742.3	Missense_Mutation	SNP	1 : 79356886 - 79356886 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	198	29
CNGA3	1261	broad.mit.edu	37	2	99012701	99012701	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99012701C>A	ENST00000409937.1	+	8	1221	c.1080C>A	c.(1078-1080)ctC>ctA	p.L360L	CNGA3_ENST00000436404.2_Silent_p.L338L|CNGA3_ENST00000272602.2_Silent_p.L356L|CNGA3_ENST00000393504.1_Silent_p.L356L			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	356					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TTTACAGTCTCTACTGGTCCA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	83	83			NA	NA	2		NA											NA				99012701		2203	4300	6503	SO:0001819	synonymous_variant			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191	1261	1261		Voltage-gated ion channels / Cyclic nucleotide-regulated channels	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2	NA	7532814, 9517456, 16382102	Standard	NM_001298	NM_001298	NA	Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000409937.1:c.1080C>A	2.37:g.99012701C>A		NA	Q53RD2|Q9UP64	37																																																																																				CNGA3-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000329558.1		+	ENST00000409937.1	Silent	SNP	2 : 99012701 - 99012701 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	426	90
SPTA1	6708	broad.mit.edu	37	1	158641181	158641181	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158641181C>T	ENST00000368147.4	-	12	1731	c.1551G>A	c.(1549-1551)aaG>aaA	p.K517K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	NA					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGTCTTCATGCTTCTGAAGAA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	111	113			NA	NA	1		NA											NA				158641181		1869	4090	5959	SO:0001819	synonymous_variant			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554	6708	6708		EF-hand domain containing	11272	protein-coding gene	gene with protein product	elliptocytosis 2	182860	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		NA		Standard	NM_003126	NM_003126	NA	Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1551G>A	1.37:g.158641181C>T		NA	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	37	CCDS41423.1																																																																																			SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051851.3		-	ENST00000368147.4	Silent	SNP	1 : 158641181 - 158641181 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	283	76
C7orf43	55262	broad.mit.edu	37	7	99754149	99754149	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99754149C>T	ENST00000316937.3	-	8	1285	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	C7orf43_ENST00000419841.1_Missense_Mutation_p.R135H|C7orf43_ENST00000498638.1_5'UTR|C7orf43_ENST00000457641.1_Missense_Mutation_p.R98H	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	367								p.R367H(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAAACACGGGCGGTCCAAGCG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											76	74	75			NA	NA	7		NA											NA				99754149		2203	4300	6503	SO:0001583	missense				CCDS5687.1	7q22.1	2011-11-25			ENSG00000146826	ENSG00000146826	55262	55262			25604	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_018275	NM_018275	NA	Approved	FLJ10925	uc003utr.3	Q8WVR3	OTTHUMG00000154862	ENST00000316937.3:c.1100G>A	7.37:g.99754149C>T	ENSP00000324741:p.Arg367His	NA	A4D2A9|D6W5U4|Q9BQJ1|Q9BUB6|Q9NV47	37	CCDS5687.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833326	0.71258	.	.	ENSG00000146826	ENST00000457641;ENST00000316937;ENST00000419841	T;T;T	0.55760	0.54;0.5;0.53	5.71	5.71	0.89125	.	0.071085	0.56097	D	0.000030	T	0.53997	0.1831	N	0.19112	0.55	0.45676	D	0.998596	D;D	0.69078	0.991;0.997	P;P	0.55391	0.662;0.775	T	0.59144	-0.7509	10	0.87932	D	0	-17.2422	17.3306	0.87262	0.0:1.0:0.0:0.0	.	135;367	E9PFF9;Q8WVR3	.;CG043_HUMAN	H	98;367;135	ENSP00000396432:R98H;ENSP00000324741:R367H;ENSP00000406326:R135H	ENSP00000324741:R367H	R	-	2	0	C7orf43	99592085	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	5.133000	0.64764	2.702000	0.92279	0.561000	0.74099	CGC	C7orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337395.2		-	ENST00000316937.3	Missense_Mutation	SNP	7 : 99754149 - 99754149 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	198	43
CDH9	1007	broad.mit.edu	37	5	26902639	26902639	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:26902639C>T	ENST00000231021.4	-	7	1371	c.1199G>A	c.(1198-1200)aGt>aAt	p.S400N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	400	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCCAATGATACTGCCCTCCTT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(8;187 585 15745 40864 52829)							NA				0													126	118	121			NA	NA	5		NA											NA				26902639		2203	4300	6503	SO:0001583	missense			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100	1007	1007		Cadherins / Major cadherins	1768	protein-coding gene	gene with protein product		609974			NA	2059658	Standard	NM_016279	NM_016279	NA	Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1199G>A	5.37:g.26902639C>T	ENSP00000231021:p.Ser400Asn	NA	Q3B7I5	37	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.017195	0.54576	.	.	ENSG00000113100	ENST00000231021	T	0.53206	0.63	5.62	5.62	0.85841	Cadherin (3);Cadherin-like (1);	0.192760	0.53938	D	0.000042	T	0.47192	0.1432	M	0.69248	2.105	0.40218	D	0.977705	B	0.14438	0.01	B	0.26614	0.071	T	0.40346	-0.9568	9	.	.	.	.	11.6748	0.51424	0.0:0.9184:0.0:0.0816	.	400	Q9ULB4	CADH9_HUMAN	N	400	ENSP00000231021:S400N	.	S	-	2	0	CDH9	26938396	0.978000	0.34361	1.000000	0.80357	0.980000	0.70556	0.592000	0.23984	2.648000	0.89879	0.650000	0.86243	AGT	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207352.1		-	ENST00000231021.4	Missense_Mutation	SNP	5 : 26902639 - 26902639 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	474	35
LRP12	29967	broad.mit.edu	37	8	105509583	105509583	+	Nonsense_Mutation	SNP	C	C	T	rs5893689		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105509583C>T	ENST00000276654.5	-	5	1305	c.1197G>A	c.(1195-1197)tgG>tgA	p.W399*	LRP12_ENST00000424843.2_Nonsense_Mutation_p.W380*	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	399	LDL-receptor class A 3.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TTGGGCAATGCCAATACCCAT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	105	108			NA	NA	8		NA											NA				105509583		2203	4300	6503	SO:0001587	stop_gained			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650	29967	29967		Low density lipoprotein receptors	31708	protein-coding gene	gene with protein product					NA	12809483, 14676824	Standard	NM_013437	NM_013437	NA	Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1197G>A	8.37:g.105509583C>T	ENSP00000276654:p.Trp399*	NA	A8K137|B4DRQ2	37	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	C	38	6.897695	0.97920	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.7409	19.7495	0.96261	0.0:1.0:0.0:0.0	.	.	.	.	X	380;399	.	ENSP00000276654:W399X	W	-	3	0	LRP12	105578759	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.456000	0.80751	2.685000	0.91497	0.455000	0.32223	TGG	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380821.1		-	ENST00000276654.5	Nonsense_Mutation	SNP	8 : 105509583 - 105509583 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	86
GPR137	56834	broad.mit.edu	37	11	64055662	64055662	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64055662C>T	ENST00000411458.1	+	6	961	c.933C>T	c.(931-933)taC>taT	p.Y311Y	GPR137_ENST00000313074.3_Silent_p.Y253Y|GPR137_ENST00000539851.1_Silent_p.Y253Y|GPR137_ENST00000438980.2_Silent_p.Y253Y|GPR137_ENST00000377702.4_Intron	NM_001170726.1	NP_001164197.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	253						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CCTTCGATTACGACTGGTACA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	83	83			NA	NA	11		NA											NA				64055662		2201	4297	6498	SO:0001819	synonymous_variant			AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264	56834	56834		GPCR / Unclassified : 7TM orphan receptors	24300	protein-coding gene	gene with protein product					NA	10873569, 12732197	Standard	NM_020155	NM_001170726	NA	Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000411458.1:c.933C>T	11.37:g.64055662C>T		NA	Q4G0Y9|Q8N4K6	37	CCDS53655.1																																																																																			GPR137-006	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396415.1		+	ENST00000411458.1	Silent	SNP	11 : 64055662 - 64055662 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	665	109
RAC3	5881	broad.mit.edu	37	17	79990867	79990867	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79990867C>T	ENST00000306897.4	+	4	408	c.270C>T	c.(268-270)ttC>ttT	p.F90F		NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	90					actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding			NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CGGCCTCCTTCGAGAATGTTC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	83	81			NA	NA	17		NA											NA				79990867		2203	4300	6503	SO:0001819	synonymous_variant			AF008591	CCDS11798.1	17q25.3	2014-01-30				ENSG00000169750	5881	5881		Endogenous ligands	9803	protein-coding gene	gene with protein product		602050			NA		Standard		NM_005052	NA	Approved		uc002kdf.3	P60763		ENST00000306897.4:c.270C>T	17.37:g.79990867C>T		NA	O14658|Q5U0M8	37	CCDS11798.1																																																																																			RAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442064.1		+	ENST00000306897.4	Silent	SNP	17 : 79990867 - 79990867 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	830	161
TRAIP	10293	broad.mit.edu	37	3	49885589	49885589	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49885589T>C	ENST00000331456.2	-	2	256	c.143A>G	c.(142-144)cAg>cGg	p.Q48R	TRAIP_ENST00000469027.1_Missense_Mutation_p.Q48R|TRAIP_ENST00000473863.1_5'UTR	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	48					cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GATTCGGCACTGTGGGCAGGT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	85	90			NA	NA	3		NA											NA				49885589		2203	4300	6503	SO:0001583	missense			BC019283	CCDS2806.1	3p21.31	2013-01-09			ENSG00000183763	ENSG00000183763	10293	10293		RING-type (C3HC4) zinc fingers	30764	protein-coding gene	gene with protein product	ring finger protein 206	605958			NA	9104814	Standard	NM_005879	NM_005879	NA	Approved	TRIP, RNF206	uc003cxs.1	Q9BWF2	OTTHUMG00000158269	ENST00000331456.2:c.143A>G	3.37:g.49885589T>C	ENSP00000328203:p.Gln48Arg	NA	O00467	37	CCDS2806.1	.	.	.	.	.	.	.	.	.	.	T	18.62	3.664004	0.67700	.	.	ENSG00000183763	ENST00000331456;ENST00000469027;ENST00000482582;ENST00000482243	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.65	5.65	0.86999	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.61515	0.2353	M	0.67397	2.05	0.48452	D	0.99965	D;D;D	0.76494	0.984;0.999;0.999	D;D;D	0.83275	0.932;0.996;0.979	T	0.58261	-0.7667	10	0.26408	T	0.33	-18.7394	15.0639	0.71977	0.0:0.0:0.0:1.0	.	48;48;48	B4DIU1;A8K807;Q9BWF2	.;.;TRAIP_HUMAN	R	48	ENSP00000328203:Q48R;ENSP00000420085:Q48R;ENSP00000418544:Q48R;ENSP00000419350:Q48R	ENSP00000328203:Q48R	Q	-	2	0	TRAIP	49860593	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.837000	0.75354	2.152000	0.67230	0.533000	0.62120	CAG	TRAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350518.1		-	ENST00000331456.2	Missense_Mutation	SNP	3 : 49885589 - 49885589 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	52
ALS2	57679	broad.mit.edu	37	2	202622146	202622146	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202622146G>T	ENST00000264276.6	-	5	1822	c.1450C>A	c.(1450-1452)Ctc>Atc	p.L484I		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	484					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						AATCCAGGGAGGGAGAGTCTT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													170	156	160			NA	NA	2		NA											NA				202622146		1862	4102	5964	SO:0001583	missense			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393	57679	57679		Rho guanine nucleotide exchange factors	443	protein-coding gene	gene with protein product	alsin	606352	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6	ALS2CR6	NA	11586298	Standard	NM_020919	NM_020919	NA	Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.1450C>A	2.37:g.202622146G>T	ENSP00000264276:p.Leu484Ile	NA	Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	37	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835620	0.71373	.	.	ENSG00000003393	ENST00000264276	T	0.58652	0.32	5.9	5.9	0.94986	.	0.064498	0.64402	D	0.000006	T	0.63581	0.2523	L	0.27053	0.805	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.986	D;P;P	0.83275	0.996;0.872;0.744	T	0.59064	-0.7524	10	0.29301	T	0.29	.	14.4356	0.67279	0.07:0.0:0.93:0.0	.	484;484;484	Q96Q42-3;Q6IQ41;Q96Q42	.;.;ALS2_HUMAN	I	484	ENSP00000264276:L484I	ENSP00000264276:L484I	L	-	1	0	ALS2	202330391	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	5.789000	0.69029	2.786000	0.95864	0.563000	0.77884	CTC	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335562.3		-	ENST00000264276.6	Missense_Mutation	SNP	2 : 202622146 - 202622146 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	467	35
SLC5A10	125206	broad.mit.edu	37	17	18918395	18918395	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18918395C>T	ENST00000317977.6	+	10	1494	c.923C>T	c.(922-924)gCg>gTg	p.A308V	SLC5A10_ENST00000395643.2_Missense_Mutation_p.A348V|SLC5A10_ENST00000395642.1_Missense_Mutation_p.A308V|SLC5A10_ENST00000417251.2_Missense_Mutation_p.A339V|SLC5A10_ENST00000395647.2_Missense_Mutation_p.A391V|SLC5A10_ENST00000395645.3_Missense_Mutation_p.A375V	NM_001282417.1	NP_001269346.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	375					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						GTGATGCTGGCGGCGCTCATG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	49	53			NA	NA	17		NA											NA				18918395		2203	4300	6503	SO:0001583	missense				CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025	125206	125206		Solute carriers	23155	protein-coding gene	gene with protein product			solute carrier family 5 (sodium/glucose cotransporter), member 10		NA		Standard	NM_152351	NM_152351	NA	Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000317977.6:c.923C>T	17.37:g.18918395C>T	ENSP00000324346:p.Ala308Val	NA	A8MUC9|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	37		.	.	.	.	.	.	.	.	.	.	C	26.5	4.745205	0.89663	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000417251;ENST00000395645;ENST00000395643	D;D;D;D;D;D	0.93906	-3.31;-3.31;-3.31;-2.98;-3.31;-3.31	4.95	4.95	0.65309	.	0.051109	0.85682	D	0.000000	D	0.97810	0.9281	H	0.97611	4.04	0.80722	D	1	D;D;D;D;D	0.71674	0.994;0.992;0.994;0.997;0.998	P;P;P;P;P	0.62382	0.901;0.84;0.901;0.84;0.896	D	0.99441	1.0938	10	0.87932	D	0	.	18.1393	0.89634	0.0:1.0:0.0:0.0	.	339;348;375;391;308	B4DPI0;A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;.;SC5AA_HUMAN;.;.	V	308;391;308;339;375;348	ENSP00000324346:A308V;ENSP00000379008:A391V;ENSP00000379004:A308V;ENSP00000401875:A339V;ENSP00000379007:A375V;ENSP00000379005:A348V	ENSP00000324346:A308V	A	+	2	0	SLC5A10	18859120	1.000000	0.71417	0.991000	0.47740	0.400000	0.30750	7.647000	0.83462	2.448000	0.82819	0.561000	0.74099	GCG	SLC5A10-004	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000132131.2		+	ENST00000317977.6	Missense_Mutation	SNP	17 : 18918395 - 18918395 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	370	65
FAM160A2	84067	broad.mit.edu	37	11	6245399	6245399	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6245399G>A	ENST00000265978.4	-	3	576	c.218C>T	c.(217-219)aCt>aTt	p.T73I	FAM160A2_ENST00000524416.1_Missense_Mutation_p.T73I|FAM160A2_ENST00000449352.2_Missense_Mutation_p.T73I	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	73					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CATCTGGTAAGTGTGGTTGCG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	41	41			NA	NA	11		NA											NA				6245399		2201	4296	6497	SO:0001583	missense				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009	84067	84067			25378	protein-coding gene	gene with protein product			chromosome 11 open reading frame 56	C11orf56	NA	11230166, 11214970	Standard	NM_032127	NM_001098794	NA	Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000265978.4:c.218C>T	11.37:g.6245399G>A	ENSP00000265978:p.Thr73Ile	NA	Q9C0A4|Q9H0N3|Q9H624	37	CCDS7760.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332681	0.41297	.	.	ENSG00000051009	ENST00000449352;ENST00000265978;ENST00000524416	T;T;T	0.14391	3.13;3.13;2.51	4.85	2.77	0.32553	.	0.127864	0.51477	D	0.000100	T	0.11665	0.0284	L	0.31664	0.95	0.41178	D	0.986217	B;B;P	0.41978	0.215;0.073;0.767	B;B;B	0.44044	0.146;0.103;0.439	T	0.08868	-1.0701	10	0.42905	T	0.14	-6.3832	8.6136	0.33817	0.0935:0.0:0.749:0.1576	.	73;73;73	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	I	73	ENSP00000416918:T73I;ENSP00000265978:T73I;ENSP00000431773:T73I	ENSP00000265978:T73I	T	-	2	0	FAM160A2	6201975	0.980000	0.34600	1.000000	0.80357	0.998000	0.95712	1.755000	0.38379	1.230000	0.43646	0.655000	0.94253	ACT	FAM160A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257229.2		-	ENST00000265978.4	Missense_Mutation	SNP	11 : 6245399 - 6245399 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	325	60
PTPRF	5792	broad.mit.edu	37	1	44056764	44056764	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44056764G>A	ENST00000359947.4	+	9	1411	c.1071G>A	c.(1069-1071)gcG>gcA	p.A357A	PTPRF_ENST00000372413.3_Silent_p.A357A|PTPRF_ENST00000438120.1_Silent_p.A357A|PTPRF_ENST00000372414.3_Silent_p.A357A	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	357	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACCGCGCAGCGGGCACGGAGG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	81	78			NA	NA	1		NA											NA				44056764		2203	4300	6503	SO:0001819	synonymous_variant			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949	5792	5792		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	9670	protein-coding gene	gene with protein product		179590		LAR	NA	7558042	Standard		NM_130440	NA	Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.1071G>A	1.37:g.44056764G>A		NA	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	37	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.724|9.724	1.160491|1.160491	0.21454|0.21454	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000412568|ENST00000429895	.|.	.|.	.|.	5.48|5.48	-4.51|-4.51	0.03483|0.03483	.|.	.|.	.|.	.|.	.|.	T|T	0.45115|0.45115	0.1326|0.1326	.|.	.|.	.|.	0.33155|0.33155	D|D	0.546231|0.546231	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.52193|0.52193	-0.8608|-0.8608	4|4	.|.	.|.	.|.	.|.	9.8855|9.8855	0.41260|0.41260	0.634:0.0:0.2527:0.1133|0.634:0.0:0.2527:0.1133	.|.	.|.	.|.	.|.	R|Q	25|14	.|.	.|.	G|R	+|+	1|2	0|0	PTPRF|PTPRF	43829351|43829351	0.008000|0.008000	0.16893|0.16893	0.036000|0.036000	0.18154|0.18154	0.961000|0.961000	0.63080|0.63080	-0.143000|-0.143000	0.10296|0.10296	-1.210000|-1.210000	0.02627|0.02627	-0.253000|-0.253000	0.11424|0.11424	GGG|CGG	PTPRF-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019710.1		+	ENST00000359947.4	Silent	SNP	1 : 44056764 - 44056764 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	726	135
SLC2A9	56606	broad.mit.edu	37	4	9998463	9998463	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:9998463C>T	ENST00000506583.1	-	5	482	c.265G>A	c.(265-267)Gcc>Acc	p.A89T	SLC2A9_ENST00000264784.3_Missense_Mutation_p.A118T|SLC2A9_ENST00000309065.3_Missense_Mutation_p.A89T			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	118					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						CCACCGATGGCGAATATGGAC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	109	115			NA	NA	4		NA											NA				9998463		2203	4300	6503	SO:0001583	missense			AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667	56606	56606		Solute carriers	13446	protein-coding gene	gene with protein product	urate voltage-driven efflux transporter 1	606142			NA	10860667, 17710649	Standard		NM_020041	NA	Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000506583.1:c.265G>A	4.37:g.9998463C>T	ENSP00000422209:p.Ala89Thr	NA	Q0VGC4|Q4W5D1|Q8WV30|Q96P00	37	CCDS3406.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348115	0.82132	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065;ENST00000513129	T;D;T;T	0.81499	-0.84;-1.5;-0.84;-0.84	5.21	5.21	0.72293	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.184799	0.47093	D	0.000259	D	0.85008	0.5599	L	0.46885	1.475	0.38926	D	0.95783	P;D	0.62365	0.95;0.991	P;D	0.65684	0.643;0.937	D	0.84646	0.0698	9	.	.	.	.	14.7852	0.69796	0.0:1.0:0.0:0.0	.	89;118	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	T	89;118;89;89	ENSP00000422209:A89T;ENSP00000264784:A118T;ENSP00000311383:A89T;ENSP00000426800:A89T	.	A	-	1	0	SLC2A9	9607561	0.995000	0.38212	0.993000	0.49108	0.958000	0.62258	1.740000	0.38228	2.643000	0.89663	0.644000	0.83932	GCC	SLC2A9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207054.2		-	ENST00000506583.1	Missense_Mutation	SNP	4 : 9998463 - 9998463 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	65
PTRH1	138428	broad.mit.edu	37	9	130477948	130477948	+	Translation_Start_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130477948C>A	ENST00000423807.1	-	0	334				C9orf117_ENST00000373293.5_3'UTR|PTRH1_ENST00000419060.1_De_novo_Start_OutOfFrame|C9orf117_ENST00000464092.1_3'UTR			Q86Y79	PTH_HUMAN	peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)	NA					translation		aminoacyl-tRNA hydrolase activity|protein binding			NS(1)	1						ACACCGCCCCCTGACGTCATC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	18	17			NA	NA	9		NA											NA				130477948		2198	4295	6493					AK090922	CCDS35147.1	9q34.11	2006-02-13	2006-02-13	2006-02-13	ENSG00000187024	ENSG00000187024	138428	138428			27039	protein-coding gene	gene with protein product			chromosome 9 open reading frame 115	C9orf115	NA		Standard	NM_001002913	NM_001002913	NA	Approved	PTH1	uc004bro.3	Q86Y79	OTTHUMG00000020710	ENST00000423807.1:c.-30G>T	9.37:g.130477948C>A		NA		37																																																																																				PTRH1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000054220.3		-	ENST00000423807.1	De_novo_Start_OutOfFrame	SNP	9 : 130477948 - 130477948 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	102	19
VPS52	6293	broad.mit.edu	37	6	33218738	33218738	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33218738G>T	ENST00000445902.2	-	20	2270	c.2052C>A	c.(2050-2052)ctC>ctA	p.L684L	VPS52_ENST00000482399.1_3'UTR|HCG25_ENST00000450514.1_RNA|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Silent_p.L559L|HCG25_ENST00000422366.1_RNA|HCG25_ENST00000427196.1_RNA|HCG25_ENST00000442228.1_RNA	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	684					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						AGCGATGATAGAGCTGGATCA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	67	66			NA	NA	6		NA											NA				33218738		1510	2707	4217	SO:0001819	synonymous_variant			AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501	6293	6293			10518	protein-coding gene	gene with protein product		603443	SAC2 suppressor of actin mutations 2-like (yeast), vacuolar protein sorting 52 (yeast)	SACM2L	NA	9790748	Standard	NM_022553	NM_022553	NA	Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.2052C>A	6.37:g.33218738G>T		NA	A2BF38|B0UZZ4|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	37	CCDS4770.2																																																																																			VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076598.2		-	ENST00000445902.2	Silent	SNP	6 : 33218738 - 33218738 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	455	20
CNTN3	5067	broad.mit.edu	37	3	74418390	74418390	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:74418390G>T	ENST00000263665.6	-	7	923	c.896C>A	c.(895-897)gCt>gAt	p.A299D		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	299	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TGAATTCTCAGCAATGCATTC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	71	72			NA	NA	3		NA											NA				74418390		2203	4299	6502	SO:0001583	missense			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805	5067	5067		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	2173	protein-coding gene	gene with protein product		601325		PANG	NA	8661054, 8586965	Standard	NM_020872	XM_005264757	NA	Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.896C>A	3.37:g.74418390G>T	ENSP00000263665:p.Ala299Asp	NA	B9EK50|Q9H039	37	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376990	0.82682	.	.	ENSG00000113805	ENST00000263665	T	0.76968	-1.06	5.05	4.17	0.49024	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.059653	0.64402	D	0.000002	D	0.91831	0.7415	H	0.96861	3.895	0.50467	D	0.999876	D	0.89917	1.0	D	0.80764	0.994	D	0.94446	0.7663	10	0.87932	D	0	.	15.5641	0.76277	0.0:0.1382:0.8618:0.0	.	299	Q9P232	CNTN3_HUMAN	D	299	ENSP00000263665:A299D	ENSP00000263665:A299D	A	-	2	0	CNTN3	74501080	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.000000	0.93564	1.117000	0.41842	0.591000	0.81541	GCT	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352306.1		-	ENST00000263665.6	Missense_Mutation	SNP	3 : 74418390 - 74418390 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	215	30
FDPS	2224	broad.mit.edu	37	1	155289473	155289473	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155289473G>A	ENST00000356657.6	+	9	1080	c.918G>A	c.(916-918)caG>caA	p.Q306Q	RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|FDPS_ENST00000447866.1_Silent_p.Q240Q|FDPS_ENST00000368356.4_Silent_p.Q306Q|RUSC1-AS1_ENST00000443642.1_RNA	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	306					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	AGTTCTTTCAGATTCAGGTAA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	82	82			NA	NA	1		NA											NA				155289473		2203	4300	6503	SO:0001819	synonymous_variant			J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2224	2224	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase	134629			NA	1968462	Standard	NM_002004	NM_002004	NA	Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.918G>A	1.37:g.155289473G>A		NA	D3DV91|Q96G29	37	CCDS1110.1																																																																																			FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039053.1		+	ENST00000356657.6	Silent	SNP	1 : 155289473 - 155289473 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	581	111
MYO7B	4648	broad.mit.edu	37	2	128380907	128380907	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128380907G>T	ENST00000409816.2	+	27	3730	c.3698G>T	c.(3697-3699)aGc>aTc	p.S1233I	MYO7B_ENST00000409090.1_Missense_Mutation_p.S86I|MYO7B_ENST00000389524.4_Missense_Mutation_p.S1233I|MYO7B_ENST00000428314.1_Missense_Mutation_p.S1233I			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1233	FERM 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CAGGGCCTCAGCGACCACCTG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	63	60			NA	NA	2		NA											NA				128380907		2143	4243	6386	SO:0001583	missense				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994	4648	4648		Myosins / Myosin superfamily : Class VII	7607	protein-coding gene	gene with protein product		606541			NA	8022818, 8884266	Standard	XM_291001	NM_001080527	NA	Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.3698G>T	2.37:g.128380907G>T	ENSP00000386461:p.Ser1233Ile	NA	Q14786|Q8TEE1	37	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	.	12.73	2.025394	0.35701	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000437387;ENST00000409090	T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96	4.82	-5.52	0.02560	Band 4.1 domain (1);FERM domain (1);	0.720633	0.13276	N	0.400116	T	0.61553	0.2356	L	0.53249	1.67	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.52026	-0.8630	10	0.62326	D	0.03	.	6.6697	0.23062	0.4751:0.3805:0.1445:0.0	.	1233	Q6PIF6	MYO7B_HUMAN	I	1233;1233;86;1233;86;86	ENSP00000374175:S1233I;ENSP00000415090:S1233I;ENSP00000386461:S1233I;ENSP00000404927:S86I;ENSP00000386850:S86I	ENSP00000272666:S86I	S	+	2	0	MYO7B	128097377	0.025000	0.19082	0.016000	0.15963	0.778000	0.44026	0.407000	0.21049	-0.967000	0.03582	0.491000	0.48974	AGC	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331124.3		+	ENST00000409816.2	Missense_Mutation	SNP	2 : 128380907 - 128380907 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	170	26
LIG4	3981	broad.mit.edu	37	13	108861101	108861101	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108861101G>T	ENST00000356922.4	-	2	2788	c.2516C>A	c.(2515-2517)gCt>gAt	p.A839D	LIG4_ENST00000442234.1_Missense_Mutation_p.A839D|LIG4_ENST00000405925.1_Missense_Mutation_p.A839D	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	839	BRCT 2.				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					GGCTTTAATAGCTAACCTTGT	0.423		NA						Non-homologous end-joining						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	98	99			NA	NA	13		NA											NA				108861101		2203	4300	6503	SO:0001583	missense			X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	3981	3981	6.5.1.1		6601	protein-coding gene	gene with protein product	polydeoxyribonucleotide synthase [ATP] 4, polynucleotide ligase, sealase, DNA repair enzyme, DNA joinase	601837			NA	7760816	Standard	NM_002312	NM_001098268	NA	Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.2516C>A	13.37:g.108861101G>T	ENSP00000349393:p.Ala839Asp	NA	Q8IY66|Q8TEU5	37	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	G	4.073	0.011445	0.07912	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.61859	0.07;0.07;0.07	5.75	4.0	0.46444	BRCT (3);	0.685891	0.14801	N	0.297615	T	0.39733	0.1089	L	0.35414	1.06	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.27297	-1.0078	10	0.11485	T	0.65	.	5.5759	0.17222	0.075:0.1454:0.638:0.1415	.	839	P49917	DNLI4_HUMAN	D	839	ENSP00000385955:A839D;ENSP00000402030:A839D;ENSP00000349393:A839D	ENSP00000349393:A839D	A	-	2	0	LIG4	107659102	0.868000	0.29978	0.181000	0.23098	0.713000	0.41058	1.955000	0.40372	0.769000	0.33313	0.567000	0.79289	GCT	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045738.4		-	ENST00000356922.4	Missense_Mutation	SNP	13 : 108861101 - 108861101 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	61
RFC1	5981	broad.mit.edu	37	4	39322915	39322915	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39322915G>A	ENST00000381897.1	-	8	933	c.800C>T	c.(799-801)cCt>cTt	p.P267L	RFC1_ENST00000418436.1_5'UTR|RFC1_ENST00000349703.2_Missense_Mutation_p.P267L	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	267					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						ACCTTTATGAGGATATTTATG	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)							NA				0													171	167	168			NA	NA	4		NA											NA				39322915		2202	4299	6501	SO:0001583	missense			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928	5981	5981		ATPases / AAA-type	9969	protein-coding gene	gene with protein product		102579	replication factor C (activator 1) 1 (145kD)		NA	8114700	Standard	NM_002913	NM_002913	NA	Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.800C>T	4.37:g.39322915G>A	ENSP00000371321:p.Pro267Leu	NA	A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	37	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	g	12.84	2.059602	0.36373	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.53640	0.61;0.61	4.81	3.97	0.46021	.	0.901960	0.09779	N	0.756915	T	0.45597	0.1350	L	0.57536	1.79	0.38095	D	0.937084	B;B	0.15141	0.007;0.012	B;B	0.13407	0.003;0.009	T	0.35798	-0.9774	10	0.33940	T	0.23	-7.1936	11.0667	0.47979	0.1565:0.0:0.8435:0.0	.	267;267	P35251;P35251-2	RFC1_HUMAN;.	L	267	ENSP00000371321:P267L;ENSP00000261424:P267L	ENSP00000261424:P267L	P	-	2	0	RFC1	38999310	0.998000	0.40836	0.940000	0.37924	0.732000	0.41865	1.280000	0.33202	1.355000	0.45865	-0.127000	0.14921	CCT	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216808.1		-	ENST00000381897.1	Missense_Mutation	SNP	4 : 39322915 - 39322915 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	328	46
ALKBH5	54890	broad.mit.edu	37	17	18110257	18110257	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18110257G>A	ENST00000541285.1	+	0	398				ALKBH5_ENST00000399138.4_Missense_Mutation_p.R327H			Q6P6C2	ALKB5_HUMAN	AlkB family member 5, RNA demethylase	NA						integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					CGGTCCCACCGCAAGGCAGAC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(166;154 1953 40235 46283 46309)							NA				0													143	148	146			NA	NA	17		NA											NA				18110257		1940	4129	6069	SO:0001623	5_prime_UTR_variant			AK000315	CCDS42272.1	17p11.2	2014-07-23	2014-07-23	2006-02-09	ENSG00000091542	ENSG00000091542	54890	54890	1.14.11.-	Alkylation repair homologs	25996	protein-coding gene	gene with protein product		613303	oxoglutarate and iron-dependent oxygenase domain containing, alkB, alkylation repair homolog 5 (E. coli)	OFOXD1	NA	11997338, 24778178	Standard	NM_017758	NM_017758	NA	Approved	FLJ20308	uc010cpw.3	Q6P6C2	OTTHUMG00000059397	ENST00000541285.1:c.-44G>A	17.37:g.18110257G>A		NA	D3DXC6|Q9NXD6	37		.	.	.	.	.	.	.	.	.	.	G	34	5.320389	0.95682	.	.	ENSG00000091542	ENST00000261650;ENST00000500385;ENST00000399138	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.65386	0.2686	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	P	0.60886	0.88	T	0.68265	-0.5454	9	0.72032	D	0.01	-20.6427	19.5182	0.95174	0.0:0.0:1.0:0.0	.	327	Q6P6C2-2	.	H	327;316;327	.	ENSP00000261650:R327H	R	+	2	0	ALKBH5	18050982	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	8.172000	0.89677	2.618000	0.88619	0.655000	0.94253	CGC	ALKBH5-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000400296.2		+	ENST00000541285.1	5'UTR	SNP	17 : 18110257 - 18110257 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1088	217
CDHR1	92211	broad.mit.edu	37	10	85974198	85974198	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85974198G>A	ENST00000372117.3	+	17	2504	c.2401G>A	c.(2401-2403)Gcg>Acg	p.A801T	CDHR1_ENST00000440770.2_Missense_Mutation_p.A505T|CDHR1_ENST00000332904.3_Intron	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	801	Pro-rich.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						ACCCAGCGTGGCGCCCAGCAC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	88	86			NA	NA	10		NA											NA				85974198		2203	4300	6503	SO:0001583	missense			AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600	92211	92211		Cadherins / Cadherin-related	14550	protein-coding gene	gene with protein product		609502	protocadherin 21	PCDH21	NA	11597768	Standard	NM_033100	NM_001171971	NA	Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.2401G>A	10.37:g.85974198G>A	ENSP00000361189:p.Ala801Thr	NA	Q69YZ8|Q8IXY5	37	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833474	0.32421	.	.	ENSG00000148600	ENST00000372117;ENST00000440770	T;T	0.56776	0.61;0.44	5.49	2.03	0.26663	.	0.963762	0.08721	N	0.903404	T	0.40222	0.1108	L	0.47716	1.5	0.09310	N	1	B;B	0.33583	0.017;0.418	B;B	0.27380	0.004;0.079	T	0.33650	-0.9860	10	0.49607	T	0.09	-16.1193	4.2007	0.10464	0.143:0.1398:0.5748:0.1425	.	505;801	E7EN47;Q96JP9	.;CDHR1_HUMAN	T	801;505	ENSP00000361189:A801T;ENSP00000415980:A505T	ENSP00000361189:A801T	A	+	1	0	CDHR1	85964178	0.003000	0.15002	0.002000	0.10522	0.030000	0.12068	1.349000	0.33998	0.643000	0.30638	-0.282000	0.10007	GCG	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049111.1		+	ENST00000372117.3	Missense_Mutation	SNP	10 : 85974198 - 85974198 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1065	207
FAF1	11124	broad.mit.edu	37	1	50941256	50941256	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:50941256G>A	ENST00000396153.2	-	18	2200	c.1749C>T	c.(1747-1749)ggC>ggT	p.G583G	FAF1_ENST00000371778.4_Silent_p.G583G|FAF1_ENST00000545823.1_Silent_p.G341G	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	583	UBX.				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity			breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CCAAGAACTCGCCACTGGGGG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	63	62			NA	NA	1		NA											NA				50941256		2203	4300	6503	SO:0001819	synonymous_variant			AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104	11124	11124		UBX domain containing	3578	protein-coding gene	gene with protein product	TNFRSF6-associated factor 1, UBX domain protein 3A	604460			NA	10462485	Standard	NM_007051	NM_007051	NA	Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.1749C>T	1.37:g.50941256G>A		NA	Q9UF34|Q9UNT3|Q9Y2Z3	37	CCDS554.1																																																																																			FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021807.1		-	ENST00000396153.2	Silent	SNP	1 : 50941256 - 50941256 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	348	33
GABBR1	2550	broad.mit.edu	37	6	29588918	29588918	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29588918A>T	ENST00000377034.4	-	11	1618	c.1283T>A	c.(1282-1284)gTc>gAc	p.V428D	GABBR1_ENST00000377012.4_Missense_Mutation_p.V311D|GABBR1_ENST00000376977.3_Missense_Mutation_p.V428D|GABBR1_ENST00000355973.3_Missense_Mutation_p.V311D|GABBR1_ENST00000377016.4_Missense_Mutation_p.V366D	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	428					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	ATTCAGCATGACAATCTCAGT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	110	122			NA	NA	6		NA											NA				29588918		1511	2709	4220	SO:0001583	missense			Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681	NA	2550		GABA receptors, GPCR / Class C : GABA(B) receptors	4070	protein-coding gene	gene with protein product	GABA-B receptor	603540			NA	9753614, 9798068	Standard		NM_001470	NA	Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1283T>A	6.37:g.29588918A>T	ENSP00000366233:p.Val428Asp	NA	B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q86W60|Q9UQQ0	37	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	a	25.9	4.685199	0.88639	.	.	ENSG00000204681	ENST00000355973;ENST00000376977;ENST00000377016;ENST00000377012;ENST00000377034	T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78;-0.78	5.64	5.64	0.86602	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.80757	0.4684	M	0.64404	1.975	0.80722	D	1	D;D;D;D	0.89917	0.997;0.999;1.0;1.0	D;D;D;D	0.91635	0.947;0.943;0.999;0.999	D	0.83484	0.0066	10	0.72032	D	0.01	-16.2389	13.8215	0.63322	1.0:0.0:0.0:0.0	.	428;366;428;311	Q9UBS5-5;Q9UBS5-3;Q9UBS5;Q5SUJ9	.;.;GABR1_HUMAN;.	D	311;428;366;311;428	ENSP00000348248:V311D;ENSP00000366176:V428D;ENSP00000366215:V366D;ENSP00000366211:V311D;ENSP00000366233:V428D	ENSP00000348248:V311D	V	-	2	0	GABBR1	29696897	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.806000	0.91930	2.168000	0.68352	0.520000	0.50463	GTC	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076141.3		-	ENST00000377034.4	Missense_Mutation	SNP	6 : 29588918 - 29588918 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	297	13
LRRC16B	90668	broad.mit.edu	37	14	24523715	24523715	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24523715C>T	ENST00000342740.5	+	5	511	c.357C>T	c.(355-357)ggC>ggT	p.G119G	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	119										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TCTGCCCTGGCCCTGGGTGAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	59	62			NA	NA	14		NA											NA				24523715		2203	4300	6503	SO:0001819	synonymous_variant			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12			90668	90668			20272	protein-coding gene	gene with protein product		614716	chromosome 14 open reading frame 121	C14orf121	NA	19846667	Standard	NM_138360	NM_138360	NA	Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.357C>T	14.37:g.24523715C>T		NA	Q8TEF7|Q96HS9	37	CCDS32054.1																																																																																			LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416527.1		+	ENST00000342740.5	Silent	SNP	14 : 24523715 - 24523715 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	44
NUAK2	81788	broad.mit.edu	37	1	205275355	205275355	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205275355C>T	ENST00000367157.3	-	5	777	c.651G>A	c.(649-651)tcG>tcA	p.S217S		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	217	Protein kinase.				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CAATCTCTGGCGAGGCATAGA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	97	96	97		651	-11.5	0	1		97	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NUAK2	NM_030952.1		0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077		217/629	205275355	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545	81788	81788			29558	protein-coding gene	gene with protein product	SNF1/AMP activated protein kinase	608131			NA	11230166	Standard	NM_030952	NM_030952	NA	Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.651G>A	1.37:g.205275355C>T		NA		37	CCDS1453.1																																																																																			NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090390.1		-	ENST00000367157.3	Silent	SNP	1 : 205275355 - 205275355 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	482	92
SBF1	6305	broad.mit.edu	37	22	50903334	50903334	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50903334C>T	ENST00000380817.3	-	13	1528	c.1345G>A	c.(1345-1347)Gag>Aag	p.E449K	SBF1_ENST00000390679.3_Missense_Mutation_p.E449K|SBF1_ENST00000348911.6_Missense_Mutation_p.E450K	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	NA					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CTTGCCACCTCGTGGGCCACC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	48	47			NA	NA	22		NA											NA				50903334		2109	4210	6319	SO:0001583	missense			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241	6305	6305		Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins, DENN/MADD domain containing, Pleckstrin homology (PH) domain containing	10542	protein-coding gene	gene with protein product	myotubularin related 5, DENN/MADD domain containing 7A	603560			NA	9537414, 9736772	Standard		NM_002972	NA	Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000380817.3:c.1345G>A	22.37:g.50903334C>T	ENSP00000370196:p.Glu449Lys	NA	A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	37	CCDS14091.2	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225242	0.39300	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	D;D;D	0.86497	-2.13;-2.13;-2.13	3.93	3.93	0.45458	.	0.301834	0.30820	N	0.008819	T	0.80237	0.4586	L	0.53249	1.67	0.44447	D	0.997375	P;B;B	0.37612	0.602;0.414;0.414	B;B;B	0.29440	0.102;0.051;0.051	T	0.78984	-0.1988	10	0.07325	T	0.83	.	15.7463	0.77944	0.0:1.0:0.0:0.0	.	449;450;449	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	K	449;450;460;459;449	ENSP00000370196:E449K;ENSP00000252027:E450K;ENSP00000375097:E449K	ENSP00000336522:E459K	E	-	1	0	SBF1	49250200	0.980000	0.34600	0.970000	0.41538	0.971000	0.66376	2.869000	0.48444	2.038000	0.60285	0.591000	0.81541	GAG	SBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316819.2		-	ENST00000380817.3	Missense_Mutation	SNP	22 : 50903334 - 50903334 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	327	56
GPR123	84435	broad.mit.edu	37	10	134942098	134942098	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134942098C>T	ENST00000392607.3	+	7	1202	c.766C>T	c.(766-768)Ctg>Ttg	p.L256L	GPR123_ENST00000607359.1_Silent_p.L975L|GPR123_ENST00000392606.2_Silent_p.L159L	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	256						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CCAGGCACAGCTGCGCGCCGC	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	12	12			NA	NA	10		NA											NA				134942098		2183	4284	6467	SO:0001819	synonymous_variant			AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177	84435	84435		-, GPCR / Class B : Orphans	13838	protein-coding gene	gene with protein product		612302			NA	12565841	Standard		XM_005252695	NA	Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.766C>T	10.37:g.134942098C>T		NA	A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	37	CCDS41580.1																																																																																			GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051113.2		+	ENST00000392607.3	Silent	SNP	10 : 134942098 - 134942098 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	83	8
ZMAT1	84460	broad.mit.edu	37	X	101139427	101139427	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101139427A>C	ENST00000372782.3	-	7	1019	c.972T>G	c.(970-972)acT>acG	p.T324T	ZMAT1_ENST00000458570.1_Silent_p.T153T|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Silent_p.T324T	NM_001011657.3	NP_001011657	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	153						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TTCTGAAACAAGTCTTTGGAT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	111	114			NA	NA	X		NA											NA				101139427		2203	4300	6503	SO:0001819	synonymous_variant			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432	84460	84460		Zinc fingers, matrin-type	29377	protein-coding gene	gene with protein product					NA		Standard		NM_001011657	NA	Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.972T>G	X.37:g.101139427A>C		NA		37	CCDS35348.1																																																																																			ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057598.1		-	ENST00000372782.3	Silent	SNP	X : 101139427 - 101139427 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	571	174
NCAM2	4685	broad.mit.edu	37	21	22840987	22840987	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22840987A>G	ENST00000400546.1	+	14	2028	c.1779A>G	c.(1777-1779)gaA>gaG	p.E593E	NCAM2_ENST00000284894.7_Silent_p.E451E	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	593	Fibronectin type-III 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ATCTAGGTGAACCAAGTCCTC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	87	89			NA	NA	21		NA											NA				22840987		1881	4105	5986	SO:0001819	synonymous_variant				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654	4685	4685		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	7657	protein-coding gene	gene with protein product		602040			NA	9226371	Standard	NM_004540	NM_004540	NA	Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1779A>G	21.37:g.22840987A>G		NA	A8MQ06|Q7Z7F2	37	CCDS42910.1																																																																																			NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000170915.1		+	ENST00000400546.1	Silent	SNP	21 : 22840987 - 22840987 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	305	36
SEC14L3	266629	broad.mit.edu	37	22	30857366	30857366	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30857366G>A	ENST00000403066.1	-	12	1118	c.835C>T	c.(835-837)Ccc>Tcc	p.P279S	SEC14L3_ENST00000402286.1_Missense_Mutation_p.P261S|SEC14L3_ENST00000539629.1_Missense_Mutation_p.P279S|SEC14L3_ENST00000415957.2_Missense_Mutation_p.P279S|SEC14L3_ENST00000215812.4_Missense_Mutation_p.P338S|SEC14L3_ENST00000540910.1_Missense_Mutation_p.P261S|SEC14L3_ENST00000401751.1_Missense_Mutation_p.P279S			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	338	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	CGCTGGCTGGGTAGAACATCT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(108;290 1516 3584 23771 37333)							NA				0													81	76	78			NA	NA	22		NA											NA				30857366		2203	4300	6503	SO:0001583	missense			AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012	266629	266629			18655	protein-coding gene	gene with protein product		612824			NA		Standard	NM_174975	NM_174975	NA	Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000403066.1:c.835C>T	22.37:g.30857366G>A	ENSP00000385941:p.Pro279Ser	NA	Q495V8	37		.	.	.	.	.	.	.	.	.	.	G	11.67	1.709032	0.30322	.	.	ENSG00000100012	ENST00000403066;ENST00000415957;ENST00000215812;ENST00000402286;ENST00000401751;ENST00000539629;ENST00000540910	T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.67	-11.3	0.00108	GOLD (2);	0.636283	0.17380	N	0.176340	T	0.32285	0.0824	M	0.64170	1.965	0.38285	D	0.94253	B;B	0.21147	0.052;0.026	B;B	0.19148	0.024;0.024	T	0.14282	-1.0478	10	0.52906	T	0.07	-0.6816	7.647	0.28325	0.0575:0.4521:0.1795:0.311	.	261;338	E9PE57;Q9UDX4	.;S14L3_HUMAN	S	279;279;338;261;279;279;261	ENSP00000385941:P279S;ENSP00000401864:P279S;ENSP00000215812:P338S;ENSP00000385004:P261S;ENSP00000383896:P279S;ENSP00000444691:P279S;ENSP00000439752:P261S	ENSP00000215812:P338S	P	-	1	0	SEC14L3	29187366	0.000000	0.05858	0.018000	0.16275	0.652000	0.38707	-0.852000	0.04308	-1.970000	0.01003	0.655000	0.94253	CCC	SEC14L3-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000321951.1		-	ENST00000403066.1	Missense_Mutation	SNP	22 : 30857366 - 30857366 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	465	83
KCNA3	3738	broad.mit.edu	37	1	111216303	111216303	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111216303G>A	ENST00000369769.2	-	1	1352	c.1129C>T	c.(1129-1131)Ctg>Ttg	p.L377L		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	377						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGCGCGACAGCTTGAAGATG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	111	111			NA	NA	1		NA											NA				111216303		2203	4300	6503	SO:0001819	synonymous_variant			L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272	3738	3738		Potassium channels, Voltage-gated ion channels / Potassium channels	6221	protein-coding gene	gene with protein product		176263			NA	2251283, 16382104	Standard	NM_002232	NM_002232	NA	Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1129C>T	1.37:g.111216303G>A		NA	Q5VWN2	37	CCDS828.2																																																																																			KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083391.1		-	ENST00000369769.2	Silent	SNP	1 : 111216303 - 111216303 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	643	56
TICAM1	148022	broad.mit.edu	37	19	4817507	4817507	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4817507C>A	ENST00000248244.5	-	2	1112	c.883G>T	c.(883-885)Gaa>Taa	p.E295*		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	295	Pro-rich.				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|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	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GTGCTGGTTTCTGGAGCTGCG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	37	35			NA	NA	19		NA											NA				4817507		2203	4300	6503	SO:0001587	stop_gained			AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666	148022	148022			18348	protein-coding gene	gene with protein product		607601			NA	12539043, 12471095	Standard	NM_014261	NM_182919	NA	Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.883G>T	19.37:g.4817507C>A	ENSP00000248244:p.Glu295*	NA	B3Y691|O75532|Q86XP8|Q96GA0	37	CCDS12136.1	.	.	.	.	.	.	.	.	.	.	C	33	5.278236	0.95459	.	.	ENSG00000127666	ENST00000248244	.	.	.	4.1	0.392	0.16288	.	1.162720	0.06964	U	0.816853	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-1.3724	5.8491	0.18683	0.0:0.6612:0.1558:0.183	.	.	.	.	X	295	.	ENSP00000248244:E295X	E	-	1	0	TICAM1	4768507	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-0.188000	0.09642	-0.022000	0.13986	0.297000	0.19635	GAA	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450435.1		-	ENST00000248244.5	Nonsense_Mutation	SNP	19 : 4817507 - 4817507 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	45
MEF2A	4205	broad.mit.edu	37	15	100211654	100211654	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100211654G>T	ENST00000557942.1	+	5	627	c.385G>T	c.(385-387)Ggc>Tgc	p.G129C	MEF2A_ENST00000449277.2_Missense_Mutation_p.G61C|MEF2A_ENST00000557785.1_Missense_Mutation_p.G129C|MEF2A_ENST00000338042.6_Missense_Mutation_p.G129C|MEF2A_ENST00000354410.5_Intron|MEF2A_ENST00000453228.2_Missense_Mutation_p.G129C|MEF2A_ENST00000558812.1_Missense_Mutation_p.G61C			Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	129					apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|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|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			TTTCAAACGAGGCCCTGTAAG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	159	163			NA	NA	15		NA											NA				100211654		1568	3582	5150	SO:0001583	missense				CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305	NA	4205		Myocyte enhancer factors	6993	protein-coding gene	gene with protein product		600660			NA	1516833	Standard		NM_005587	NA	Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557942.1:c.385G>T	15.37:g.100211654G>T	ENSP00000453095:p.Gly129Cys	NA	O43814|Q14223|Q14224|Q96D14	37		.	.	.	.	.	.	.	.	.	.	G	17.43	3.388376	0.61956	.	.	ENSG00000068305	ENST00000453228;ENST00000338042;ENST00000449277	T;T;T	0.62941	-0.01;-0.01;-0.01	5.4	5.4	0.78164	.	.	.	.	.	T	0.53948	0.1828	N	0.01352	-0.895	0.34472	D	0.702941	D;D;B;P	0.62365	0.965;0.991;0.001;0.931	P;P;B;P	0.62298	0.855;0.9;0.004;0.671	T	0.71217	-0.4658	9	0.37606	T	0.19	.	19.5293	0.95222	0.0:0.0:1.0:0.0	.	61;50;129;129	B4DFQ7;Q7Z6C9;Q02078-6;Q02078-2	.;.;.;.	C	129;129;61	ENSP00000404110:G129C;ENSP00000337202:G129C;ENSP00000399460:G61C	ENSP00000337202:G129C	G	+	1	0	MEF2A	98029177	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.713000	0.68415	2.694000	0.91930	0.561000	0.74099	GGC	MEF2A-005	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000415988.1		+	ENST00000557942.1	Missense_Mutation	SNP	15 : 100211654 - 100211654 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	429	63
SYT13	57586	broad.mit.edu	37	11	45307687	45307687	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45307687G>T	ENST00000020926.3	-	1	183	c.72C>A	c.(70-72)tgC>tgA	p.C24*		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	24						transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						AGGTGACCCCGCACAACGCGA	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	15	15			NA	NA	11		NA											NA				45307687		2194	4292	6486	SO:0001587	stop_gained			AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505	57586	57586		Synaptotagmins	14962	protein-coding gene	gene with protein product		607716			NA	11171101	Standard	NM_020826	NM_020826	NA	Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.72C>A	11.37:g.45307687G>T	ENSP00000020926:p.Cys24*	NA	A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	37	CCDS31470.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656339	0.88056	.	.	ENSG00000019505	ENST00000020926	.	.	.	3.75	0.564	0.17302	.	0.000000	0.64402	U	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	7.6769	0.28490	0.3094:0.0:0.6906:0.0	.	.	.	.	X	24	.	ENSP00000020926:C24X	C	-	3	2	SYT13	45264263	0.998000	0.40836	1.000000	0.80357	0.328000	0.28507	0.454000	0.21827	0.079000	0.16929	-0.680000	0.03767	TGC	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390110.1		-	ENST00000020926.3	Nonsense_Mutation	SNP	11 : 45307687 - 45307687 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	75	19
CTNNA3	29119	broad.mit.edu	37	10	67680191	67680191	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:67680191T>C	ENST00000433211.2	-	18	2759	c.2585A>G	c.(2584-2586)gAg>gGg	p.E862G	CTNNA3_ENST00000373744.4_Missense_Mutation_p.E862G|CTNNA3_ENST00000373735.1_5'UTR	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	NA					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CTCTGGCTTCTCTCTTTTAAT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	110	109			NA	NA	10		NA											NA				67680191		2203	4300	6503	SO:0001583	missense			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230	29119	29119			2511	protein-coding gene	gene with protein product		607667			NA	12596047, 11590244	Standard	NM_013266	XM_005269717	NA	Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.2585A>G	10.37:g.67680191T>C	ENSP00000389714:p.Glu862Gly	NA	Q5VSR2|Q6P056	37	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.951743	0.92660	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000373735	T;T;T	0.51325	1.3;1.3;0.71	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000019	T	0.66327	0.2778	M	0.68317	2.08	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	T	0.68405	-0.5417	10	0.59425	D	0.04	-23.3476	14.3151	0.66443	0.0:0.0:0.0:1.0	.	862	Q9UI47	CTNA3_HUMAN	G	862;862;201	ENSP00000389714:E862G;ENSP00000362849:E862G;ENSP00000362840:E201G	ENSP00000362840:E201G	E	-	2	0	CTNNA3	67350197	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.040000	0.89188	2.266000	0.75297	0.533000	0.62120	GAG	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048282.2		-	ENST00000433211.2	Missense_Mutation	SNP	10 : 67680191 - 67680191 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	679	135
ATOH1	474	broad.mit.edu	37	4	94750764	94750764	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:94750764C>T	ENST00000306011.3	+	1	723	c.687C>T	c.(685-687)gcC>gcT	p.A229A		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	229					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		CGCCTCCAGCCTCCTGCAAAA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	30	29			NA	NA	4		NA											NA				94750764		2199	4292	6491	SO:0001819	synonymous_variant			U61148	CCDS3638.1	4q22	2013-05-21			ENSG00000172238	ENSG00000172238	474	474		Basic helix-loop-helix proteins	797	protein-coding gene	gene with protein product		601461			NA	8872459	Standard	NM_005172	NM_005172	NA	Approved	HATH1, MATH-1, Math1, bHLHa14	uc003hta.1	Q92858	OTTHUMG00000130972	ENST00000306011.3:c.687C>T	4.37:g.94750764C>T		NA	Q14CT9	37	CCDS3638.1																																																																																			ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253585.1		+	ENST00000306011.3	Silent	SNP	4 : 94750764 - 94750764 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	446	92
OR8D4	338662	broad.mit.edu	37	11	123777647	123777647	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123777647G>T	ENST00000321355.2	+	1	539	c.509G>T	c.(508-510)gGa>gTa	p.G170V		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TCTTTCTGTGGATCAAACATC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													218	214	216			NA	NA	11		NA											NA				123777647		2202	4299	6501	SO:0001583	missense			AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518	338662	338662		GPCR / Class A : Olfactory receptors	14840	protein-coding gene	gene with protein product					NA		Standard	NM_001005197	NM_001005197	NA	Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.509G>T	11.37:g.123777647G>T	ENSP00000325381:p.Gly170Val	NA	Q6IFE9	37	CCDS31698.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629197	0.28978	.	.	ENSG00000181518	ENST00000321355	T	0.38401	1.14	5.81	1.35	0.21983	GPCR, rhodopsin-like superfamily (1);	0.498728	0.16960	N	0.192540	T	0.58935	0.2157	M	0.88704	2.975	0.09310	N	1	P	0.50528	0.936	P	0.62885	0.908	T	0.50516	-0.8819	10	0.51188	T	0.08	.	8.8791	0.35363	0.4661:0.0:0.5339:0.0	.	170	Q8NGM9	OR8D4_HUMAN	V	170	ENSP00000325381:G170V	ENSP00000325381:G170V	G	+	2	0	OR8D4	123282857	0.066000	0.20996	0.000000	0.03702	0.674000	0.39518	0.909000	0.28558	-0.023000	0.13963	0.655000	0.94253	GGA	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387262.1		+	ENST00000321355.2	Missense_Mutation	SNP	11 : 123777647 - 123777647 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1404	116
EPN3	55040	broad.mit.edu	37	17	48614080	48614080	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48614080G>A	ENST00000268933.3	+	2	742	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	EPN3_ENST00000541226.1_5'UTR|EPN3_ENST00000537145.1_Missense_Mutation_p.E110K	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	55	ENTH.					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			GGCCTTCACCGAAGTCATGGG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	85	87			NA	NA	17		NA											NA				48614080		2203	4300	6503	SO:0001583	missense			AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283	55040	55040			18235	protein-coding gene	gene with protein product		607264			NA	10951261, 11359770	Standard	NM_017957	NM_017957	NA	Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.163G>A	17.37:g.48614080G>A	ENSP00000268933:p.Glu55Lys	NA	A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	37	CCDS11570.1	.	.	.	.	.	.	.	.	.	.	G	33	5.262270	0.95368	.	.	ENSG00000049283	ENST00000268933;ENST00000503246;ENST00000442715;ENST00000537145;ENST00000507709;ENST00000515126;ENST00000507467;ENST00000411703	T;T;T;T;T	0.48522	0.81;0.81;0.85;0.81;0.81	5.28	5.28	0.74379	Epsin domain, N-terminal (1);ENTH/VHS (2);Epsin-like, N-terminal (2);	0.168407	0.51477	D	0.000086	T	0.76378	0.3979	M	0.91768	3.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.82216	-0.0567	10	0.72032	D	0.01	-26.6736	18.5277	0.90978	0.0:0.0:1.0:0.0	.	110;110;55	B4DK18;F6QWW5;Q9H201	.;.;EPN3_HUMAN	K	55;55;110;110;16;55;55;55	ENSP00000268933:E55K;ENSP00000426762:E55K;ENSP00000439512:E110K;ENSP00000422601:E55K;ENSP00000421515:E55K	ENSP00000268933:E55K	E	+	1	0	EPN3	45969079	1.000000	0.71417	0.979000	0.43373	0.703000	0.40648	9.869000	0.99810	2.468000	0.83385	0.561000	0.74099	GAA	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367573.1		+	ENST00000268933.3	Missense_Mutation	SNP	17 : 48614080 - 48614080 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	543	85
MLK4	0	broad.mit.edu	37	1	233489598	233489598	+	Nonsense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233489598T>A	ENST00000366624.3	+	3	1293	c.1032T>A	c.(1030-1032)taT>taA	p.Y344*	MLK4_ENST00000366623.3_Nonsense_Mutation_p.Y344*	NM_032435.2	NP_115811.2				NA											NA						AAGTCCCCTATCGGGGCATTG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	99	100			NA	NA	1		NA											NA				233489598		2203	4300	6503	SO:0001587	stop_gained											NA	NA			NA							NA					NA						ENST00000366624.3:c.1032T>A	1.37:g.233489598T>A	ENSP00000355583:p.Tyr344*	NA		37	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	T	38	7.176914	0.98114	.	.	ENSG00000143674	ENST00000366623;ENST00000366624	.	.	.	4.91	-6.63	0.01807	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.6719	0.99681	0.0:0.8469:0.0:0.1531	.	.	.	.	X	344	.	ENSP00000355582:Y344X	Y	+	3	2	RP5-862P8.2	231556221	0.509000	0.26163	0.549000	0.28204	0.985000	0.73830	-0.180000	0.09754	-1.575000	0.01655	0.460000	0.39030	TAT	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092495.1		+	ENST00000366624.3	Nonsense_Mutation	SNP	1 : 233489598 - 233489598 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	494	72
TMEM86A	144110	broad.mit.edu	37	11	18722484	18722484	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18722484A>C	ENST00000527002.1	+	0	261				TMEM86A_ENST00000280734.2_Missense_Mutation_p.K9T			Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	NA						integral to membrane				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						CTCCAGGTGAAGAGTGAAGGA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	129	134			NA	NA	11		NA											NA				18722484		2199	4293	6492	SO:0001624	3_prime_UTR_variant			BC035692	CCDS7844.1	11p15.1	2005-10-28				ENSG00000151117	144110	144110			26890	protein-coding gene	gene with protein product					NA		Standard	NM_153347	NM_153347	NA	Approved	FLJ90119	uc001moz.1	Q8N2M4		ENST00000527002.1:c.*258A>C	11.37:g.18722484A>C		NA	Q96AJ0	37		.	.	.	.	.	.	.	.	.	.	A	18.87	3.716213	0.68844	.	.	ENSG00000151117	ENST00000535380;ENST00000280734	T	0.29655	1.56	4.09	4.09	0.47781	.	0.119442	0.56097	D	0.000028	T	0.48429	0.1499	M	0.67397	2.05	0.58432	D	0.999997	D	0.76494	0.999	D	0.80764	0.994	T	0.45026	-0.9289	10	0.46703	T	0.11	-6.8659	8.3037	0.32029	0.9098:0.0:0.0902:0.0	.	9	Q8N2M4	TM86A_HUMAN	T	9	ENSP00000280734:K9T	ENSP00000280734:K9T	K	+	2	0	TMEM86A	18679060	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.952000	0.75989	1.850000	0.53721	0.379000	0.24179	AAG	TMEM86A-002	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000387810.1		+	ENST00000527002.1	3'UTR	SNP	11 : 18722484 - 18722484 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	553	141
ATP10D	57205	broad.mit.edu	37	4	47559715	47559715	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47559715A>C	ENST00000273859.3	+	12	2128	c.1859A>C	c.(1858-1860)aAg>aCg	p.K620T	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	620					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTGCCCATTAAGTCTTTGGAA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	48	46			NA	NA	4		NA											NA				47559715		2203	4300	6503	SO:0001583	missense			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246	57205	57205		ATPases / P-type	13549	protein-coding gene	gene with protein product			ATPase, Class V, type 10D		NA	12532265	Standard	NM_020453	NM_020453	NA	Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.1859A>C	4.37:g.47559715A>C	ENSP00000273859:p.Lys620Thr	NA	A2RRC8|D6REN2|Q8NC70|Q96SR3	37	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	A	4.975	0.181158	0.09443	.	.	ENSG00000145246	ENST00000273859	T	0.39406	1.08	5.48	2.82	0.32997	HAD-like domain (1);	0.217737	0.46145	D	0.000317	T	0.23572	0.0570	N	0.25286	0.73	0.80722	D	1	B	0.14012	0.009	B	0.21360	0.034	T	0.04946	-1.0916	10	0.08179	T	0.78	-19.5022	8.3194	0.32119	0.7755:0.1404:0.0841:0.0	.	620	Q9P241	AT10D_HUMAN	T	620	ENSP00000273859:K620T	ENSP00000273859:K620T	K	+	2	0	ATP10D	47254472	1.000000	0.71417	0.951000	0.38953	0.020000	0.10135	4.235000	0.58666	0.875000	0.35847	-0.366000	0.07423	AAG	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216900.1		+	ENST00000273859.3	Missense_Mutation	SNP	4 : 47559715 - 47559715 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	318	64
ANK2	287	broad.mit.edu	37	4	113970914	113970914	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113970914C>T	ENST00000357077.4	+	1	83	c.30C>T	c.(28-30)agC>agT	p.S10S	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Silent_p.S10S|RP11-650J17.1_ENST00000508959.1_RNA|ANK2_ENST00000394537.3_Silent_p.S10S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	10					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTCAGAAAAGCGACAGTGGAG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	81	80			NA	NA	4		NA											NA				113970914		2203	4300	6503	SO:0001819	synonymous_variant			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362	287	287		Ankyrin repeat domain containing	493	protein-coding gene	gene with protein product		106410	long (electrocardiographic) QT syndrome 4	LQT4	NA	7485162, 12571597	Standard	NM_001148	NM_001148	NA	Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.30C>T	4.37:g.113970914C>T		NA	Q01485|Q08AC7|Q08AC8|Q7Z3L5	37	CCDS3702.1																																																																																			ANK2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256422.2		+	ENST00000357077.4	Silent	SNP	4 : 113970914 - 113970914 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	203	28
STON1	11037	broad.mit.edu	37	2	48809668	48809668	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48809668A>G	ENST00000406226.1	+	3	2091	c.1896A>G	c.(1894-1896)gtA>gtG	p.V632V	STON1_ENST00000404752.1_Silent_p.V632V|STON1-GTF2A1L_ENST00000405008.1_Silent_p.V632V|STON1-GTF2A1L_ENST00000394751.3_Silent_p.V632V|STON1-GTF2A1L_ENST00000394754.1_Silent_p.V632V|STON1-GTF2A1L_ENST00000309827.2_Silent_p.V632V|STON1-GTF2A1L_ENST00000402114.2_Silent_p.V632V|STON1_ENST00000309835.3_Silent_p.V632V	NM_001198595.1	NP_001185524.1			stonin 1	NA										NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGGCAGTGGTATGGAAGATAG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	48	48			NA	NA	2		NA											NA				48809668		2203	4300	6503	SO:0001819	synonymous_variant			AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244	11037	11037			17003	protein-coding gene	gene with protein product	stoned B homolog 1 (Drosophila)	605357			NA	14504226, 10364255	Standard	NM_006873	NM_001198595	NA	Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1896A>G	2.37:g.48809668A>G		NA		37	CCDS1841.1																																																																																			STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323848.2		+	ENST00000406226.1	Silent	SNP	2 : 48809668 - 48809668 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	62
AFF1	4299	broad.mit.edu	37	4	88036157	88036157	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88036157C>T	ENST00000307808.6	+	11	2571	c.2151C>T	c.(2149-2151)agC>agT	p.S717S	AFF1_ENST00000544085.1_Silent_p.S355S|AFF1_ENST00000395146.4_Silent_p.S724S	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	717						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		ACAGTGGCAGCGGCAGCAGGA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								T	,	0,4406		0,0,2203	33	38	36		2172,2151	-3.2	0	4		36	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	AFF1	NM_001166693.1,NM_005935.2	,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,	724/1219,717/1211	88036157	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493	4299	4299			7135	protein-coding gene	gene with protein product		159557	myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2, pre-B-cell monocytic leukemia partner 1	PBM1, MLLT2	NA	7689231, 1423625, 8353274	Standard	NM_005935	NM_005935	NA	Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.2151C>T	4.37:g.88036157C>T		NA		37	CCDS3616.1																																																																																			AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253053.3		+	ENST00000307808.6	Silent	SNP	4 : 88036157 - 88036157 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	279	53
USP21	27005	broad.mit.edu	37	1	161133729	161133729	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161133729G>A	ENST00000289865.8	+	8	1397	c.1176G>A	c.(1174-1176)acG>acA	p.T392T	USP21_ENST00000368001.1_Silent_p.T392T|USP21_ENST00000493054.1_Intron|USP21_ENST00000368002.3_Silent_p.T392T	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	392					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ATCGCTCCACGACCTTCGAGG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	126	131			NA	NA	1		NA											NA				161133729		2203	4300	6503	SO:0001819	synonymous_variant			AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258	27005	27005		Ubiquitin-specific peptidases	12620	protein-coding gene	gene with protein product		604729	ubiquitin specific protease 21	USP23	NA	12838346, 10799498	Standard		XM_006711273	NA	Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.1176G>A	1.37:g.161133729G>A		NA	Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	37	CCDS30920.1																																																																																			USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080801.1		+	ENST00000289865.8	Silent	SNP	1 : 161133729 - 161133729 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	652	95
CTTNBP2	83992	broad.mit.edu	37	7	117400555	117400555	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117400555T>G	ENST00000160373.3	-	10	3197	c.3106A>C	c.(3106-3108)Act>Cct	p.T1036P		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1036										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TTATTGCAAGTCACGTCTTCC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													170	150	157			NA	NA	7		NA											NA				117400555		2203	4300	6503	SO:0001583	missense				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063	83992	83992		Ankyrin repeat domain containing	15679	protein-coding gene	gene with protein product		609772	cortactin binding protein 2	CORTBP2, C7orf8	NA	11707066	Standard	NM_033427	XM_005250635	NA	Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.3106A>C	7.37:g.117400555T>G	ENSP00000160373:p.Thr1036Pro	NA	O43389|Q7LG11|Q9C0A5	37	CCDS5774.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	10.42|10.42|10.42	1.344691|1.344691|1.344691	0.24426|0.24426|0.24426	.|.|.	.|.|.	ENSG00000077063|ENSG00000077063|ENSG00000077063	ENST00000446636|ENST00000160373|ENST00000435233;ENST00000416239	.|T|.	.|0.67171|.	.|-0.25|.	5.72|5.72|5.72	1.89|1.89|1.89	0.25635|0.25635|0.25635	.|.|.	.|0.408889|.	.|0.27151|.	.|N|.	.|0.020687|.	T|T|.	0.46171|0.46171|.	0.1379|0.1379|.	M|M|M	0.79123|0.79123|0.79123	2.44|2.44|2.44	0.09310|0.09310|0.09310	N|N|N	0.999991|0.999991|0.999991	.|P|.	.|0.47962|.	.|0.903|.	.|B|.	.|0.39876|.	.|0.312|.	T|T|.	0.44620|0.44620|.	-0.9316|-0.9316|.	5|10|.	.|0.72032|.	.|D|.	.|0.01|.	-1.2873|-1.2873|-1.2873	2.3636|2.3636|2.3636	0.04313|0.04313|0.04313	0.1278:0.1474:0.1191:0.6057|0.1278:0.1474:0.1191:0.6057|0.1278:0.1474:0.1191:0.6057	.|.|.	.|1036|.	.|Q8WZ74|.	.|CTTB2_HUMAN|.	A|P|C	523|1036|49;31	.|ENSP00000160373:T1036P|.	.|ENSP00000160373:T1036P|.	D|T|X	-|-|-	2|1|3	0|0|0	CTTNBP2|CTTNBP2|CTTNBP2	117187791|117187791|117187791	0.999000|0.999000|0.999000	0.42202|0.42202|0.42202	0.014000|0.014000|0.014000	0.15608|0.15608|0.15608	0.026000|0.026000|0.026000	0.11368|0.11368|0.11368	0.797000|0.797000|0.797000	0.26999|0.26999|0.26999	0.138000|0.138000|0.138000	0.18790|0.18790|0.18790	-0.417000|-0.417000|-0.417000	0.06048|0.06048|0.06048	GAC|ACT|TGA	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059201.4		-	ENST00000160373.3	Missense_Mutation	SNP	7 : 117400555 - 117400555 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	552	104
BHMT	635	broad.mit.edu	37	5	78416175	78416175	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78416175G>A	ENST00000274353.5	+	4	395	c.288G>A	c.(286-288)ggG>ggA	p.G96G	DMGDH_ENST00000520388.1_5'UTR|BHMT_ENST00000524080.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	96	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	CATTTTAGGGGCAGGAAGTCA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	50	50			NA	NA	5		NA											NA				78416175		2203	4300	6503	SO:0001819	synonymous_variant			BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	635	635	2.1.1.5		1047	protein-coding gene	gene with protein product	betaine homocysteine methyltransferase	602888			NA	8798461, 9281325	Standard	NM_001713	NM_001713	NA	Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.288G>A	5.37:g.78416175G>A		NA	Q9UNI9	37	CCDS4046.1																																																																																			BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226961.1		+	ENST00000274353.5	Silent	SNP	5 : 78416175 - 78416175 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	206	43
PAM	5066	broad.mit.edu	37	5	102364643	102364643	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:102364643C>A	ENST00000438793.3	+	25	3266	c.2796C>A	c.(2794-2796)ggC>ggA	p.G932G	PAM_ENST00000274392.9_Silent_p.G834G|PAM_ENST00000455264.2_Silent_p.G864G|PAM_ENST00000346918.2_Silent_p.G846G|PAM_ENST00000348126.2_Silent_p.G825G|PAM_ENST00000379787.4_Silent_p.G294G|PAM_ENST00000304400.7_Silent_p.G933G	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	932	Interaction with RASSF9 (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GCCGTAAGGGCTACAGTCGAA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	112	113			NA	NA	5		NA											NA				102364643		2203	4300	6503	SO:0001819	synonymous_variant			AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	5066	5066	1.14.17.3		8596	protein-coding gene	gene with protein product	peptidyl-alpha-hydroxyglycine alpha-amidating lyase, peptidylglycine alpha-hydroxylating monooxygenase	170270			NA	2357221	Standard	NM_000919	NM_000919	NA	Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.2796C>A	5.37:g.102364643C>A		NA	A6NMR0|A8K293|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	37	CCDS54885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.725|3.725	-0.056777|-0.056777	0.07362|0.07362	.|.	.|.	ENSG00000145730|ENSG00000145730	ENST00000504691|ENST00000379799	.|.	.|.	.|.	6.03|6.03	0.07|0.07	0.14376|0.14376	.|.	.|.	.|.	.|.	.|.	T|T	0.54208|0.54208	0.1844|0.1844	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.42749|0.42749	-0.9433|-0.9433	4|4	.|.	.|.	.|.	.|.	7.9509|7.9509	0.30014|0.30014	0.0959:0.5577:0.0:0.3464|0.0959:0.5577:0.0:0.3464	.|.	.|.	.|.	.|.	D|I	209|638	.|.	.|.	A|L	+|+	2|1	0|2	PAM|PAM	102392542|102392542	0.988000|0.988000	0.35896|0.35896	0.976000|0.976000	0.42696|0.42696	0.733000|0.733000	0.41908|0.41908	0.278000|0.278000	0.18753|0.18753	-0.258000|-0.258000	0.09446|0.09446	-0.797000|-0.797000	0.03246|0.03246	GCT|CTA	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250640.2		+	ENST00000438793.3	Silent	SNP	5 : 102364643 - 102364643 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	61
MICALCL	84953	broad.mit.edu	37	11	12341278	12341278	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:12341278G>A	ENST00000256186.2	+	4	1753	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	488					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		ACAGGTAACAGAGGCTTCCTC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	115	115			NA	NA	11		NA											NA				12341278		1926	4130	6056	SO:0001583	missense			BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808	84953	84953			25933	protein-coding gene	gene with protein product		612355			NA	12110185	Standard	NM_032867	NM_032867	NA	Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1462G>A	11.37:g.12341278G>A	ENSP00000256186:p.Glu488Lys	NA	Q7RTP7|Q96JU6	37	CCDS41620.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.659779	0.29515	.	.	ENSG00000133808	ENST00000256186	T	0.09911	2.93	5.55	4.58	0.56647	.	0.348813	0.20333	N	0.094386	T	0.07863	0.0197	L	0.38175	1.15	0.21740	N	0.999568	P	0.43094	0.799	B	0.33339	0.162	T	0.34675	-0.9819	10	0.22109	T	0.4	.	13.2894	0.60262	0.0:0.1588:0.8412:0.0	.	488	Q6ZW33	MICLK_HUMAN	K	488	ENSP00000256186:E488K	ENSP00000256186:E488K	E	+	1	0	MICALCL	12297854	0.616000	0.27035	0.339000	0.25562	0.465000	0.32709	3.063000	0.49978	2.753000	0.94483	0.655000	0.94253	GAG	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386164.1		+	ENST00000256186.2	Missense_Mutation	SNP	11 : 12341278 - 12341278 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	631	117
TEX15	56154	broad.mit.edu	37	8	30705470	30705470	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30705470C>A	ENST00000256246.2	-	1	1138	c.1064G>T	c.(1063-1065)aGt>aTt	p.S355I		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	355										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AATGGCTAAACTTGTATGAAT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	66	67			NA	NA	8		NA											NA				30705470		2203	4300	6503	SO:0001583	missense			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863	56154	56154			11738	protein-coding gene	gene with protein product	cancer/testis antigen 42	605795	testis expressed sequence 15		NA	11279525	Standard		NM_031271	NA	Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.1064G>T	8.37:g.30705470C>A	ENSP00000256246:p.Ser355Ile	NA		37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	7.592	0.670934	0.14776	.	.	ENSG00000133863	ENST00000256246	T	0.10860	2.83	5.46	-2.5	0.06384	.	0.558840	0.18195	N	0.148712	T	0.11281	0.0275	L	0.27053	0.805	0.09310	N	1	P	0.40794	0.729	P	0.48400	0.576	T	0.18366	-1.0339	10	0.87932	D	0	.	12.1096	0.53831	0.0:0.3605:0.0:0.6395	.	355	Q9BXT5	TEX15_HUMAN	I	355	ENSP00000256246:S355I	ENSP00000256246:S355I	S	-	2	0	TEX15	30825012	0.005000	0.15991	0.005000	0.12908	0.054000	0.15201	-0.517000	0.06275	-0.457000	0.07033	-1.000000	0.02509	AGT	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376193.1		-	ENST00000256246.2	Missense_Mutation	SNP	8 : 30705470 - 30705470 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	205	33
BMPER	168667	broad.mit.edu	37	7	34101630	34101630	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:34101630G>A	ENST00000297161.2	+	12	1423	c.1049G>A	c.(1048-1050)aGa>aAa	p.R350K	BMPER_ENST00000426693.1_Missense_Mutation_p.R350K	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	350	VWFC 5.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						ATTCTCAACAGAAAAGGATGC	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	88	90			NA	NA	7		NA											NA				34101630		2203	4299	6502	SO:0001583	missense				CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619	168667	168667			24154	protein-coding gene	gene with protein product	crossveinless-2	608699			NA	12897139, 14766204	Standard	NM_133468	NM_133468	NA	Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1049G>A	7.37:g.34101630G>A	ENSP00000297161:p.Arg350Lys	NA	A8K1P8|Q8TF36	37	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262841	0.39995	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.64260	-0.09;-0.09	6.06	5.18	0.71444	von Willebrand factor, type C (4);	0.085942	0.85682	N	0.000000	T	0.48804	0.1520	L	0.45228	1.405	0.50813	D	0.999896	B	0.31026	0.304	B	0.26614	0.071	T	0.43861	-0.9365	10	0.05721	T	0.95	.	14.8026	0.69926	0.0684:0.0:0.9316:0.0	.	350	Q8N8U9	BMPER_HUMAN	K	350	ENSP00000297161:R350K;ENSP00000393950:R350K	ENSP00000297161:R350K	R	+	2	0	BMPER	34068155	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.324000	0.72896	2.880000	0.98712	0.650000	0.86243	AGA	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250570.2		+	ENST00000297161.2	Missense_Mutation	SNP	7 : 34101630 - 34101630 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	130	18
RHOT2	89941	broad.mit.edu	37	16	721946	721946	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:721946C>T	ENST00000315082.4	+	13	1155	c.1041C>T	c.(1039-1041)cgC>cgT	p.R347R		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	347					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				AGCTCCCACGCACAGTCCGCA	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	61	57			NA	NA	16		NA											NA				721946		2201	4296	6497	SO:0001819	synonymous_variant			BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983	89941	89941		EF-hand domain containing	21169	protein-coding gene	gene with protein product	mitochondrial Rho (MIRO) GTPase 2	613889	chromosome 16 open reading frame 39, ras homolog gene family, member T2	C16orf39, ARHT2	NA	12482879	Standard	NM_138769	NM_138769	NA	Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.1041C>T	16.37:g.721946C>T		NA	A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	37	CCDS10417.1																																																																																			RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000241617.1		+	ENST00000315082.4	Silent	SNP	16 : 721946 - 721946 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	796	147
TENM4	26011	broad.mit.edu	37	11	78369427	78369427	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:78369427G>A	ENST00000278550.7	-	34	8448	c.7986C>T	c.(7984-7986)cgC>cgT	p.R2662R		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4	NA											NA						TGTCTGTGTAGCGTCTAGTCC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	69	66			NA	NA	11		NA											NA				78369427		2120	4251	6371	SO:0001819	synonymous_variant			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256	26011	26011			29945	protein-coding gene	gene with protein product		610084	odz, odd Oz/ten-m homolog 4 (Drosophila)	ODZ4	NA	12000766, 10625539	Standard		NM_001098816	NA	Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.7986C>T	11.37:g.78369427G>A		NA		37	CCDS44688.1																																																																																			TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391406.2		-	ENST00000278550.7	Silent	SNP	11 : 78369427 - 78369427 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	186	33
ZNF71	58491	broad.mit.edu	37	19	57133136	57133136	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57133136G>A	ENST00000328070.6	+	3	715	c.481G>A	c.(481-483)Gac>Aac	p.D161N		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	161						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GTTTGAGTGTGACACCTGTGG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	54	54			NA	NA	19		NA											NA				57133136		2203	4300	6503	SO:0001583	missense			X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951	58491	58491		Zinc fingers, C2H2-type	13141	protein-coding gene	gene with protein product		194545	zinc finger protein 71 (Cos26)		NA	1639391	Standard	NM_021216	NM_021216	NA	Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.481G>A	19.37:g.57133136G>A	ENSP00000328245:p.Asp161Asn	NA	Q15919|Q9UC09|Q9UQD3	37	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-2.005750	0.00426	.	.	ENSG00000197951	ENST00000328070	T	0.07327	3.2	3.7	-5.9	0.02275	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03348	0.0097	N	0.16307	0.4	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46911	-0.9157	9	0.02654	T	1	.	7.5589	0.27839	0.6047:0.2386:0.1567:0.0	.	161	Q9NQZ8	ZNF71_HUMAN	N	161	ENSP00000328245:D161N	ENSP00000328245:D161N	D	+	1	0	ZNF71	61824948	0.000000	0.05858	0.000000	0.03702	0.207000	0.24258	-3.715000	0.00385	-1.111000	0.02988	-0.254000	0.11334	GAC	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459798.2		+	ENST00000328070.6	Missense_Mutation	SNP	19 : 57133136 - 57133136 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	391	81
ZNF366	167465	broad.mit.edu	37	5	71756349	71756349	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71756349C>T	ENST00000318442.5	-	2	1465	c.975G>A	c.(973-975)aaG>aaA	p.K325K		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TCATGTGGCGCTTCAGGTGGC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	40	41			NA	NA	5		NA											NA				71756349		2203	4300	6503	SO:0001819	synonymous_variant			AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175	NA	167465		Zinc fingers, C2H2-type	18316	protein-coding gene	gene with protein product		610159			NA		Standard		NM_152625	NA	Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.975G>A	5.37:g.71756349C>T		NA	Q7RTV4	37	CCDS4015.1																																																																																			ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000218574.3		-	ENST00000318442.5	Silent	SNP	5 : 71756349 - 71756349 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	309	67
KCNK3	3777	broad.mit.edu	37	2	26950699	26950699	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26950699C>T	ENST00000302909.3	+	2	573	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	150					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGGGCATGCGGCGCGCCGA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(80;1457 1631 27100 45946)							NA				0													71	66	68			NA	NA	2		NA											NA				26950699		2203	4300	6503	SO:0001583	missense			AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303	3777	3777		Potassium channels, Voltage-gated ion channels / Potassium channels, Two-P	6278	protein-coding gene	gene with protein product		603220			NA	9312005, 9721223, 16382106	Standard	NM_002246	NM_002246	NA	Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.448C>T	2.37:g.26950699C>T	ENSP00000306275:p.Arg150Trp	NA	Q53SU2	37	CCDS1727.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754335	0.69648	.	.	ENSG00000171303	ENST00000538762;ENST00000302909	T	0.22945	1.93	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.51092	0.1654	M	0.83483	2.645	0.47511	D	0.999448	D	0.76494	0.999	D	0.67548	0.952	T	0.55860	-0.8074	10	0.87932	D	0	.	11.7912	0.52070	0.1755:0.8245:0.0:0.0	.	150	O14649	KCNK3_HUMAN	W	27;150	ENSP00000306275:R150W	ENSP00000306275:R150W	R	+	1	2	KCNK3	26804203	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	0.560000	0.23500	2.619000	0.88677	0.561000	0.74099	CGG	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000246861.2		+	ENST00000302909.3	Missense_Mutation	SNP	2 : 26950699 - 26950699 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	660	115
CELF6	60677	broad.mit.edu	37	15	72582592	72582592	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72582592G>A	ENST00000543764.2	-	3	228	c.54C>T	c.(52-54)gaC>gaT	p.D18D	CELF6_ENST00000287202.5_Silent_p.D133D|CELF6_ENST00000569547.1_Silent_p.D133D|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000395258.2_Silent_p.D20D|CELF6_ENST00000569311.1_5'UTR|CELF6_ENST00000567083.1_Silent_p.D133D|CELF6_ENST00000539635.1_5'UTR|RP11-106M3.3_ENST00000570175.1_RNA	NM_001172685.1	NP_001166156.1	Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	133					mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						ACAGCTTTCGGTCCTCTGGGG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	39	42			NA	NA	15		NA											NA				72582592		2199	4297	6496	SO:0001819	synonymous_variant			AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488	60677	60677		RNA binding motif (RRM) containing	14059	protein-coding gene	gene with protein product		612681	Bruno (Drosophila) -like 6, RNA binding protein, bruno-like 6, RNA binding protein (Drosophila)	BRUNOL6	NA	10893231	Standard	NM_052840	NM_052840	NA	Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000543764.2:c.54C>T	15.37:g.72582592G>A		NA	Q6PII4|Q6ZNJ7|Q8N607	37	CCDS53955.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138296	0.37728	.	.	ENSG00000140488	ENST00000379915	.	.	.	5.41	2.5	0.30297	.	.	.	.	.	T	0.60090	0.2242	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57015	-0.7883	5	0.45353	T	0.12	-17.7166	8.2792	0.31889	0.2471:0.0:0.7529:0.0	.	.	.	.	I	11	.	ENSP00000369247:T11I	T	-	2	0	CELF6	70369646	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.279000	0.51670	0.660000	0.30964	0.561000	0.74099	ACC	CELF6-003	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000420183.1		-	ENST00000543764.2	Silent	SNP	15 : 72582592 - 72582592 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	126	20
ZNF707	286075	broad.mit.edu	37	8	144776463	144776463	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144776463C>T	ENST00000532205.1	+	8	1778	c.879C>T	c.(877-879)tgC>tgT	p.C293C	ZNF707_ENST00000418203.2_Silent_p.C293C|ZNF707_ENST00000358656.4_Silent_p.C293C|ZNF707_ENST00000532158.1_Silent_p.C293C|ZNF707_ENST00000454097.1_Silent_p.C293C			Q96C28	ZN707_HUMAN	zinc finger protein 707	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCGCGGACTGCGGCAAAGCCT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	35	33			NA	NA	8		NA											NA				144776463		2169	4277	6446	SO:0001819	synonymous_variant			AK001126	CCDS47932.1	8q24.3	2013-01-08				ENSG00000181135	286075	286075		Zinc fingers, C2H2-type, -	27815	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_173831	NM_173831	NA	Approved		uc010mfi.3	Q96C28		ENST00000532205.1:c.879C>T	8.37:g.144776463C>T		NA	A8K317|B3KNY1|D3DWK7	37	CCDS47932.1																																																																																			ZNF707-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382197.1		+	ENST00000532205.1	Silent	SNP	8 : 144776463 - 144776463 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	119	25
ARHGEF10	9639	broad.mit.edu	37	8	1874553	1874553	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:1874553C>A	ENST00000518288.1	+	24	2856	c.2693C>A	c.(2692-2694)gCt>gAt	p.A898D	ARHGEF10_ENST00000262112.6_Intron|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.A836D|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.A899D|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.A874D			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	899					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		ATTGAATGTGCTGCTTATAAC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	165	170			NA	NA	8		NA											NA				1874553		2203	4300	6503	SO:0001583	missense			AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728	9639	9639		Rho guanine nucleotide exchange factors	14103	protein-coding gene	gene with protein product		608136			NA	9205841, 16896804	Standard		XM_005266039	NA	Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000518288.1:c.2693C>A	8.37:g.1874553C>A	ENSP00000431012:p.Ala898Asp	NA	O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	37		.	.	.	.	.	.	.	.	.	.	C	16.78	3.218496	0.58560	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398564	T;T;T;T	0.61627	0.1;0.16;0.09;0.09	5.26	5.26	0.73747	.	0.115630	0.56097	D	0.000021	T	0.78142	0.4237	M	0.81942	2.565	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.996	D;D;D	0.72075	0.967;0.976;0.953	T	0.81215	-0.1034	10	0.72032	D	0.01	-14.6941	18.8647	0.92287	0.0:1.0:0.0:0.0	.	899;836;874	O15013;O15013-7;O15013-5	ARHGA_HUMAN;.;.	D	874;836;898;899	ENSP00000340297:A874D;ENSP00000427909:A836D;ENSP00000431012:A898D;ENSP00000381571:A899D	ENSP00000340297:A874D	A	+	2	0	ARHGEF10	1861960	1.000000	0.71417	0.945000	0.38365	0.017000	0.09413	6.550000	0.73905	2.437000	0.82529	0.650000	0.86243	GCT	ARHGEF10-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000374591.1		+	ENST00000518288.1	Missense_Mutation	SNP	8 : 1874553 - 1874553 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	345	28
SRSF7	6432	broad.mit.edu	37	2	38976720	38976720	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:38976720C>T	ENST00000313117.6	-	3	574	c.337G>A	c.(337-339)Gga>Aga	p.G113R	SRSF7_ENST00000409276.1_Missense_Mutation_p.G113R|SRSF7_ENST00000446327.2_Missense_Mutation_p.G113R	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7	113					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GCATAATGTCCCTTTTCGCCA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	149	152			NA	NA	2		NA											NA				38976720		2203	4300	6503	SO:0001583	missense			L41887	CCDS33183.1, CCDS56115.1	2p22.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000115875	ENSG00000115875	6432	6432		Zinc fingers, CCHC domain containing, Serine/arginine-rich splicing factors, RNA binding motif (RRM) containing	10789	protein-coding gene	gene with protein product	SR splicing factor 7	600572	splicing factor, arginine/serine-rich 7 (35kD), splicing factor, arginine/serine-rich 7, 35kDa	SFRS7	NA	8013463, 20516191	Standard	NM_001031684	NM_001031684	NA	Approved	9G8, ZCRB2, HSSG1, AAG3, RBM37, ZCCHC20	uc002rqz.3	Q16629	OTTHUMG00000102076	ENST00000313117.6:c.337G>A	2.37:g.38976720C>T	ENSP00000325905:p.Gly113Arg	NA	Q564D3	37	CCDS33183.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788892	0.90367	.	.	ENSG00000115875	ENST00000313117;ENST00000446327;ENST00000409276	D;D;D	0.96491	-4.03;-4.03;-4.03	6.03	6.03	0.97812	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (2);	0.000000	0.64402	D	0.000001	D	0.98188	0.9401	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98444	1.0588	10	0.87932	D	0	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	113;113	G5E9M3;Q16629	.;SRSF7_HUMAN	R	113	ENSP00000325905:G113R;ENSP00000402264:G113R;ENSP00000386806:G113R	ENSP00000325905:G113R	G	-	1	0	SRSF7	38830224	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.507000	0.81676	2.861000	0.98227	0.655000	0.94253	GGA	SRSF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219889.2		-	ENST00000313117.6	Missense_Mutation	SNP	2 : 38976720 - 38976720 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1123	99
RAD54L	8438	broad.mit.edu	37	1	46733150	46733150	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46733150C>A	ENST00000371975.4	+	9	1585	c.911C>A	c.(910-912)tCt>tAt	p.S304Y	RAD54L_ENST00000442598.1_Missense_Mutation_p.S304Y|RAD54L_ENST00000473251.1_3'UTR	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	304	Helicase ATP-binding.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CTCAAGAACTCTGAGAATCAG	0.502		NA						Direct reversal of damage;Homologous recombination						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	91	93			NA	NA	1		NA											NA				46733150		2203	4300	6503	SO:0001583	missense			X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999	8438	8438			9826	protein-coding gene	gene with protein product		603615	RAD54 (S.cerevisiae)-like		NA	8805304	Standard	NM_003579	NM_003579	NA	Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.911C>A	1.37:g.46733150C>A	ENSP00000361043:p.Ser304Tyr	NA	Q5TE31|Q6IUY3	37	CCDS532.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.981784	0.93044	.	.	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	D;D	0.93604	-3.25;-3.25	5.34	5.34	0.76211	DEAD-like helicase (2);SNF2-related (1);	0.054494	0.85682	D	0.000000	D	0.95313	0.8479	M	0.74389	2.26	0.80722	D	1	P;P	0.47841	0.858;0.901	B;P	0.51701	0.25;0.677	D	0.95438	0.8523	10	0.59425	D	0.04	-13.6725	19.0329	0.92965	0.0:1.0:0.0:0.0	.	124;304	G3V1N0;Q92698	.;RAD54_HUMAN	Y	304;304;124	ENSP00000396113:S304Y;ENSP00000361043:S304Y	ENSP00000361043:S304Y	S	+	2	0	RAD54L	46505737	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.548000	0.82154	2.486000	0.83907	0.561000	0.74099	TCT	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021272.1		+	ENST00000371975.4	Missense_Mutation	SNP	1 : 46733150 - 46733150 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	410	93
JAG2	3714	broad.mit.edu	37	14	105617706	105617706	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105617706C>T	ENST00000331782.3	-	9	1584	c.1181G>A	c.(1180-1182)tGt>tAt	p.C394Y	JAG2_ENST00000347004.2_Missense_Mutation_p.C394Y	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	394	EGF-like 5; calcium-binding (Potential).				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		ACCGGCCGCACACGGGTTCGA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	34	35			NA	NA	14		NA											NA				105617706		2203	4300	6503	SO:0001583	missense			AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916	3714	3714			6189	protein-coding gene	gene with protein product		602570			NA	9315665, 10662552	Standard		NM_002226	NA	Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.1181G>A	14.37:g.105617706C>T	ENSP00000328169:p.Cys394Tyr	NA	Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	37	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.235646	0.58886	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.99992	-12.4;-12.4	3.76	3.76	0.43208	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.99994	0.9999	H	0.99712	4.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99989	1.3819	10	0.87932	D	0	.	13.0718	0.59066	0.0:1.0:0.0:0.0	.	394;394	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	Y	394	ENSP00000328169:C394Y;ENSP00000328566:C394Y	ENSP00000328169:C394Y	C	-	2	0	JAG2	104688751	1.000000	0.71417	0.446000	0.26920	0.386000	0.30323	5.834000	0.69361	1.610000	0.50200	0.297000	0.19635	TGT	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276506.2		-	ENST00000331782.3	Missense_Mutation	SNP	14 : 105617706 - 105617706 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	217	42
COL5A2	1290	broad.mit.edu	37	2	189975161	189975161	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189975161C>A	ENST00000374866.3	-	2	386	c.112G>T	c.(112-114)Gaa>Taa	p.E38*		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	38					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CAGGCTATTTCTTCACCATAT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	62	61			NA	NA	2		NA											NA				189975161		2203	4300	6503	SO:0001587	stop_gained			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262	1290	1290		Collagens	2210	protein-coding gene	gene with protein product	AB collagen	120190			NA	1572660	Standard	NM_000393	NM_000393	NA	Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.112G>T	2.37:g.189975161C>A	ENSP00000364000:p.Glu38*	NA	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	37	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	38	7.219777	0.98143	.	.	ENSG00000204262	ENST00000374866	.	.	.	5.44	5.44	0.79542	.	0.000000	0.52532	D	0.000062	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6133	0.95618	0.0:1.0:0.0:0.0	.	.	.	.	X	38	.	.	E	-	1	0	COL5A2	189683406	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.967000	0.70403	2.702000	0.92279	0.655000	0.94253	GAA	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313523.1		-	ENST00000374866.3	Nonsense_Mutation	SNP	2 : 189975161 - 189975161 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	46
OR14J1	442191	broad.mit.edu	37	6	29275057	29275057	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29275057G>A	ENST00000377160.2	+	1	655	c.591G>A	c.(589-591)ctG>ctA	p.L197L		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						AGATTGCACTGGCTGCATTCA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	163	162			NA	NA	6		NA											NA				29275057		1511	2709	4220	SO:0001819	synonymous_variant				CCDS34362.1	6p21.3	2012-08-09	2008-04-02	2008-04-02	ENSG00000204695	ENSG00000204695	442191	442191		GPCR / Class A : Olfactory receptors	13971	protein-coding gene	gene with protein product			olfactory receptor, family 5, subfamily U, member 1	OR5U1	NA		Standard		NM_030946	NA	Approved	hs6M1-28	uc011dln.2	Q9UGF5	OTTHUMG00000031184	ENST00000377160.2:c.591G>A	6.37:g.29275057G>A		NA	A2BEC2|B0V078|Q5ST27	37	CCDS34362.1																																																																																			OR14J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076362.2		+	ENST00000377160.2	Silent	SNP	6 : 29275057 - 29275057 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	759	129
LOXL2	4017	broad.mit.edu	37	8	23217627	23217627	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23217627G>A	ENST00000389131.3	-	3	876	c.507C>T	c.(505-507)gaC>gaT	p.D169D	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	169					aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TCAACGAATTGTCAAATTTGA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	105	110			NA	NA	8		NA											NA				23217627		2203	4300	6503	SO:0001819	synonymous_variant			U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013	4017	4017			6666	protein-coding gene	gene with protein product		606663			NA	9722957	Standard		NM_002318	NA	Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.507C>T	8.37:g.23217627G>A		NA	Q9BW70|Q9Y5Y8	37	CCDS34864.1																																																																																			LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375603.1		-	ENST00000389131.3	Silent	SNP	8 : 23217627 - 23217627 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	385	49
CTPS1	1503	broad.mit.edu	37	1	41466775	41466775	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41466775G>A	ENST00000372621.4	+	10	1588	c.1080G>A	c.(1078-1080)aaG>aaA	p.K360K	CTPS1_ENST00000541520.1_Silent_p.K129K|CTPS1_ENST00000372616.1_Silent_p.K360K	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN	CTP synthase 1	360	Glutamine amidotransferase type-1.				CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding			endometrium(3)|lung(10)	13					L-Glutamine(DB00130)	CTTGGCAGAAGCTCTGTAGTG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	66	68			NA	NA	1		NA											NA				41466775		2203	4300	6503	SO:0001819	synonymous_variant			BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	1503	1503	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	CTP synthase	CTPS	NA	1783378	Standard	NM_001905	XM_005270536	NA	Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.1080G>A	1.37:g.41466775G>A		NA	D3DPW1|Q5VW67|Q96GK6	37	CCDS459.1																																																																																			CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000015629.1		+	ENST00000372621.4	Silent	SNP	1 : 41466775 - 41466775 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	208	47
BCHE	590	broad.mit.edu	37	3	165491178	165491178	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:165491178C>T	ENST00000264381.3	-	4	1967	c.1801G>A	c.(1801-1803)Ggt>Agt	p.G601S	BCHE_ENST00000540653.1_Missense_Mutation_p.G63S	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	601					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	AATTAGAGACCCACACAACTT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	102	103			NA	NA	3		NA											NA				165491178		2201	4298	6499	SO:0001583	missense			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	590	590	3.1.1.8		983	protein-coding gene	gene with protein product		177400	cholinesterase 1, cholinesterase (serum) 2	CHE1, CHE2	NA	1769657, 2318303	Standard		NM_000055	NA	Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1801G>A	3.37:g.165491178C>T	ENSP00000264381:p.Gly601Ser	NA	A8K7P8	37	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187387	0.57909	.	.	ENSG00000114200	ENST00000264381;ENST00000479451;ENST00000540653	T;T;T	0.78003	-0.12;-1.14;-1.12	5.18	5.18	0.71444	Acetylcholinesterase, tetramerisation (2);	0.455528	0.22190	N	0.063389	T	0.73233	0.3561	L	0.45581	1.43	0.42790	D	0.993894	B	0.14805	0.011	B	0.18263	0.021	T	0.67530	-0.5647	10	0.25751	T	0.34	.	18.0353	0.89301	0.0:1.0:0.0:0.0	.	601	P06276	CHLE_HUMAN	S	601;131;63	ENSP00000264381:G601S;ENSP00000418325:G131S;ENSP00000443583:G63S	ENSP00000264381:G601S	G	-	1	0	BCHE	166973872	1.000000	0.71417	0.500000	0.27589	0.988000	0.76386	4.683000	0.61679	2.552000	0.86080	0.650000	0.86243	GGT	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350254.1		-	ENST00000264381.3	Missense_Mutation	SNP	3 : 165491178 - 165491178 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	137	27
NT5M	56953	broad.mit.edu	37	17	17250251	17250251	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17250251G>A	ENST00000389022.4	+	5	893	c.677G>A	c.(676-678)cGg>cAg	p.R226Q	NT5M_ENST00000582909.1_3'UTR	NM_020201.3	NP_064586.1	Q9NPB1	NT5M_HUMAN	5',3'-nucleotidase, mitochondrial	226					DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						GACAGCAAGCGGCCCTGCTGA	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	44	41			NA	NA	17		NA											NA				17250251		2203	4300	6503	SO:0001583	missense			AF210652	CCDS32581.1	17p11.2	2007-08-01	2002-05-23		ENSG00000205309	ENSG00000205309	56953	56953	3.1.3.5		15769	protein-coding gene	gene with protein product		605292	5' nucleotidase, mitochondrial		NA	10899995	Standard		XM_005256731	NA	Approved	dNT-2, dNT2, mdN	uc002grf.3	Q9NPB1	OTTHUMG00000059277	ENST00000389022.4:c.677G>A	17.37:g.17250251G>A	ENSP00000373674:p.Arg226Gln	NA		37	CCDS32581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.7|29.7	5.030203|5.030203	0.93575|0.93575	.|.	.|.	ENSG00000205309|ENSG00000205309	ENST00000446264|ENST00000389022	.|T	.|0.46451	.|0.87	5.79|5.79	5.79|5.79	0.91817|0.91817	.|HAD-like domain (2);	0.238680|.	0.46758|.	D|.	0.000264|.	T|T	0.66479|0.66479	0.2793|0.2793	M|M	0.75447|0.75447	2.3|2.3	0.30268|0.30268	N|N	0.792551|0.792551	D|D;D	0.76494|0.89917	0.999|1.0;1.0	P|D;D	0.59115|0.97110	0.852|0.99;1.0	T|T	0.66968|0.66968	-0.5789|-0.5789	9|9	0.87932|0.87932	D|D	0|0	-6.3164|-6.3164	16.7638|16.7638	0.85519|0.85519	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	225|232;226	F6S3X3|Q2I378;Q9NPB1	.|.;NT5M_HUMAN	S|Q	225|226	.|ENSP00000373674:R226Q	ENSP00000390695:G225S|ENSP00000373674:R226Q	G|R	+|+	1|2	0|0	NT5M|NT5M	17190976|17190976	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.604000|0.604000	0.37047|0.37047	8.364000|8.364000	0.90105|0.90105	2.728000|2.728000	0.93425|0.93425	0.561000|0.561000	0.74099|0.74099	GGC|CGG	NT5M-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000446045.1		+	ENST00000389022.4	Missense_Mutation	SNP	17 : 17250251 - 17250251 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	339	48
NR2E1	7101	broad.mit.edu	37	6	108496126	108496126	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108496126C>T	ENST00000368986.4	+	3	966	c.258C>T	c.(256-258)gaC>gaT	p.D86D	NR2E1_ENST00000368983.3_Splice_Site_p.D123D	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	86					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		TGAACAAAGACGGTAATCAGT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	113	119			NA	NA	6		NA											NA				108496126		2203	4300	6503	SO:0001630	splice_region_variant			Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333	7101	7101		Nuclear hormone receptors	7973	protein-coding gene	gene with protein product		603849		TLX	NA	9628820	Standard		NM_003269	NA	Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.259+1C>T	6.37:g.108496126C>T		NA		37	CCDS5063.1																																																																																			NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041712.2	Silent	+	ENST00000368986.4	Splice_Site	SNP	6 : 108496126 - 108496126 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	278	46
NCAPG2	54892	broad.mit.edu	37	7	158473475	158473475	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158473475G>A	ENST00000409339.3	-	10	1071	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	NCAPG2_ENST00000275830.10_Missense_Mutation_p.R112W|NCAPG2_ENST00000449727.2_Missense_Mutation_p.R320W|NCAPG2_ENST00000409423.1_Missense_Mutation_p.R320W|NCAPG2_ENST00000356309.3_Missense_Mutation_p.R320W	NM_001281933.1	NP_001268862.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	320					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		ACTCCCTGCCGAACTTTCTTT	0.323		NA											G	0	0	NA	NA	2184	NA	0.9995	,	,	NA	3e-04	NA	NA	NA	7e-04	0.6933	EXOME	NA	NA	4e-04	SNP								NA				0													79	75	76			NA	NA	7		NA											NA				158473475		1805	4069	5874	SO:0001583	missense			BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918	54892	54892			21904	protein-coding gene	gene with protein product		608532	leucine zipper protein 5	LUZP5	NA	14532007	Standard	NM_017760	NM_001281933	NA	Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409339.3:c.958C>T	7.37:g.158473475G>A	ENSP00000387007:p.Arg320Trp	NA	A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	37		0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	15.22	2.768352	0.49680	.	.	ENSG00000146918	ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000449727	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	5.22	5.22	0.72569	Armadillo-type fold (1);	0.297322	0.37261	N	0.002179	T	0.67325	0.2881	L	0.57536	1.79	0.47737	D	0.999508	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	T	0.69658	-0.5086	10	0.87932	D	0	-20.4179	19.1636	0.93544	0.0:0.0:1.0:0.0	.	320;112;320	Q86XI2-2;E7EUH9;Q86XI2	.;.;CNDG2_HUMAN	W	320;320;112;320;320	ENSP00000348657:R320W;ENSP00000386569:R320W;ENSP00000275830:R112W;ENSP00000387007:R320W;ENSP00000388326:R320W	ENSP00000275830:R112W	R	-	1	2	NCAPG2	158166236	1.000000	0.71417	0.187000	0.23214	0.144000	0.21451	5.086000	0.64474	2.590000	0.87494	0.655000	0.94253	CGG	NCAPG2-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000327110.1		-	ENST00000409339.3	Missense_Mutation	SNP	7 : 158473475 - 158473475 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	505	34
MOGS	7841	broad.mit.edu	37	2	74689272	74689272	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74689272G>T	ENST00000233616.4	-	4	1806	c.1644C>A	c.(1642-1644)ctC>ctA	p.L548L	MOGS_ENST00000452063.2_Silent_p.L442L|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	548					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GGCTCTGATGGAGCCAGGAAA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	91	89			NA	NA	2		NA											NA				74689272		1942	4133	6075	SO:0001819	synonymous_variant			X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	7841	7841	3.2.1.106		24862	protein-coding gene	gene with protein product	glucosidase I, processing A-glucosidase I	601336			NA	7635146, 8786151	Standard	NM_006302	NM_006302	NA	Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.1644C>A	2.37:g.74689272G>T		NA	A8K938|Q17RN9|Q8TCT5	37	CCDS42700.1																																																																																			MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328382.1		-	ENST00000233616.4	Silent	SNP	2 : 74689272 - 74689272 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	891	145
PGBD5	79605	broad.mit.edu	37	1	230472895	230472895	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230472895C>A	ENST00000525115.1	-	4	850	c.827G>T	c.(826-828)aGc>aTc	p.S276I	PGBD5_ENST00000391860.1_Missense_Mutation_p.S230I|PGBD5_ENST00000321327.2_Missense_Mutation_p.S375I			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	276						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		GCTGGTGATGCTGGGCCCCGT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	99	102			NA	NA	1		NA											NA				230472895		2203	4300	6503	SO:0001583	missense			AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614	79605	79605			19405	protein-coding gene	gene with protein product					NA		Standard	NM_024554	NM_001258311	NA	Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.827G>T	1.37:g.230472895C>A	ENSP00000431404:p.Ser276Ile	NA	A0PJF3|B9EK58|Q5SR37|Q6PJN2	37		.	.	.	.	.	.	.	.	.	.	c	20.5	4.003363	0.74932	.	.	ENSG00000177614	ENST00000391860;ENST00000321327;ENST00000525115	T;T;T	0.18502	2.21;2.21;2.21	5.21	5.21	0.72293	.	0.086170	0.85682	D	0.000000	T	0.30479	0.0766	N	0.24115	0.695	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.07009	-1.0795	10	0.48119	T	0.1	-37.2023	18.7377	0.91761	0.0:1.0:0.0:0.0	.	276	Q8N414	PGBD5_HUMAN	I	230;375;276	ENSP00000375733:S230I;ENSP00000322530:S375I;ENSP00000431404:S276I	ENSP00000322530:S375I	S	-	2	0	PGBD5	228539518	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.167000	0.71902	2.409000	0.81822	0.585000	0.79938	AGC	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000382617.1		-	ENST00000525115.1	Missense_Mutation	SNP	1 : 230472895 - 230472895 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	599	149
HIPK4	147746	broad.mit.edu	37	19	40895661	40895661	+	Missense_Mutation	SNP	C	C	T	rs146668696		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40895661C>T	ENST00000291823.2	-	1	433	c.149G>A	c.(148-150)cGc>cAc	p.R50H		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	50	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CTTGATGATGCGGTTGCGGTA	0.607		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	166	141	149		149	2.8	0.9	19	dbSNP_134	149	1,8599	1.2+/-3.3	0,1,4299	no	missense	HIPK4	NM_144685.3	29	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign	50/617	40895661	1,13005	2203	4300	6503	SO:0001583	missense			BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396	147746	147746			19007	protein-coding gene	gene with protein product		611712			NA		Standard	NM_144685	NM_144685	NA	Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.149G>A	19.37:g.40895661C>T	ENSP00000291823:p.Arg50His	NA	A8K863|Q96M54	37	CCDS12555.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.692122	0.30052	0.0	1.16E-4	ENSG00000160396	ENST00000291823;ENST00000452139	T	0.65916	-0.18	4.93	2.83	0.33086	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.127834	0.36303	N	0.002673	T	0.45677	0.1354	N	0.25485	0.75	0.25777	N	0.984778	B	0.13145	0.007	B	0.14578	0.011	T	0.41270	-0.9518	10	0.56958	D	0.05	.	8.2578	0.31766	0.0:0.7512:0.0:0.2488	.	50	Q8NE63	HIPK4_HUMAN	H	50;15	ENSP00000291823:R50H	ENSP00000291823:R50H	R	-	2	0	HIPK4	45587501	0.006000	0.16342	0.928000	0.36995	0.676000	0.39594	0.548000	0.23314	0.697000	0.31718	-0.983000	0.02560	CGC	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462593.1		-	ENST00000291823.2	Missense_Mutation	SNP	19 : 40895661 - 40895661 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	966	116
EHD3	30845	broad.mit.edu	37	2	31457609	31457609	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31457609G>A	ENST00000322054.5	+	1	407	c.122G>A	c.(121-123)cGc>cAc	p.R41H	EHD3_ENST00000541626.1_Missense_Mutation_p.R41H	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	41					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	p.R41L(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GAGCATTACCGCTTCCACGAG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											108	102	104			NA	NA	2		NA											NA				31457609		2203	4300	6503	SO:0001583	missense			AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016	30845	30845		EF-hand domain containing	3244	protein-coding gene	gene with protein product		605891		PAST3	NA	10673336	Standard	NM_014600	NM_014600	NA	Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.122G>A	2.37:g.31457609G>A	ENSP00000327116:p.Arg41His	NA	D6W574|Q8N514|Q9NZB3	37	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.563703	0.65651	.	.	ENSG00000013016	ENST00000541626;ENST00000322054	T;T	0.32753	1.44;2.18	5.0	5.0	0.66597	.	0.047335	0.85682	D	0.000000	T	0.30355	0.0762	M	0.71036	2.16	0.42300	D	0.992178	B;B	0.11235	0.004;0.002	B;B	0.08055	0.001;0.003	T	0.33317	-0.9873	10	0.66056	D	0.02	-24.0634	5.9496	0.19237	0.2233:0.0:0.7767:0.0	.	41;41	B4DFR5;Q9NZN3	.;EHD3_HUMAN	H	41	ENSP00000440685:R41H;ENSP00000327116:R41H	ENSP00000327116:R41H	R	+	2	0	EHD3	31311113	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.609000	0.67661	2.600000	0.87896	0.561000	0.74099	CGC	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216810.1		+	ENST00000322054.5	Missense_Mutation	SNP	2 : 31457609 - 31457609 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	628	159
RALGPS1	9649	broad.mit.edu	37	9	129975289	129975289	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129975289G>A	ENST00000259351.5	+	17	1780	c.1513G>A	c.(1513-1515)Gag>Aag	p.E505K	RALGPS1_ENST00000373434.1_Missense_Mutation_p.E455K|RALGPS1_ENST00000424082.2_Missense_Mutation_p.E463K	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	505	PH.|Required for stimulation of nucleotide exchange by RALA.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CGATGACCCCGAGCACCCAGA	0.572		NA											G	1	5e-04	0.002	NA	2184	NA	0.9999	,	,	NA	2e-04	NA	NA	NA	5e-04	0.9181	EXOME	NA	NA	5e-04	SNP								NA				0													62	60	61			NA	NA	9		NA											NA				129975289		2203	4300	6503	SO:0001583	missense			AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828	9649	9649		Pleckstrin homology (PH) domain containing	16851	protein-coding gene	gene with protein product		614444			NA	9205841, 10747847	Standard	NM_014636	NM_001190728	NA	Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.1513G>A	9.37:g.129975289G>A	ENSP00000259351:p.Glu505Lys	NA	O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	37	CCDS35143.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.48	2.547441	0.45383	.	.	ENSG00000136828	ENST00000259351;ENST00000424082;ENST00000373434	T;T;T	0.76186	-1.0;-1.0;-1.0	5.46	5.46	0.80206	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.173457	0.49916	D	0.000135	T	0.66386	0.2784	L	0.40543	1.245	0.40964	D	0.984648	B;B;P	0.39576	0.05;0.069;0.679	B;B;B	0.36289	0.013;0.005;0.221	T	0.64643	-0.6359	10	0.15499	T	0.54	.	19.3156	0.94211	0.0:0.0:1.0:0.0	.	463;455;505	E9PBQ5;Q5JS13-2;Q5JS13	.;.;RGPS1_HUMAN	K	505;463;455	ENSP00000259351:E505K;ENSP00000415630:E463K;ENSP00000362533:E455K	ENSP00000259351:E505K	E	+	1	0	RALGPS1	129015110	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	5.782000	0.68973	2.552000	0.86080	0.655000	0.94253	GAG	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054133.1		+	ENST00000259351.5	Missense_Mutation	SNP	9 : 129975289 - 129975289 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	378	46
CXCR4	7852	broad.mit.edu	37	2	136872944	136872944	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136872944A>C	ENST00000409817.1	-	1	869	c.566T>G	c.(565-567)aTc>aGc	p.I189S	CXCR4_ENST00000241393.3_Missense_Mutation_p.I185S|CXCR4_ENST00000466288.1_5'UTR	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	185	Chemokine binding, important for signaling and HIV-1 coreceptor activity.				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	GCGGTCACAGATATATCTGTC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	119	123			NA	NA	2		NA											NA				136872944		2203	4300	6503	SO:0001583	missense			AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966	NA	7852		CD molecules, GPCR / Class A : Chemokine receptors : C-X-C motif	2561	protein-coding gene	gene with protein product		162643	chemokine (C-X-C motif), receptor 4 (fusin)		NA	9599023, 9379028	Standard		NM_001008540	NA	Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000409817.1:c.566T>G	2.37:g.136872944A>C	ENSP00000386884:p.Ile189Ser	NA	B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	37	CCDS33295.1	.	.	.	.	.	.	.	.	.	.	A	11.76	1.733907	0.30684	.	.	ENSG00000121966	ENST00000409817;ENST00000241393;ENST00000537957	T;T	0.35973	1.28;1.28	6.17	5.03	0.67393	GPCR, rhodopsin-like superfamily (1);	0.939982	0.09064	N	0.853828	T	0.32406	0.0828	N	0.26162	0.8	0.50467	D	0.999876	B;D	0.57899	0.376;0.981	P;P	0.46110	0.479;0.504	T	0.00867	-1.1534	10	0.24483	T	0.36	.	12.2882	0.54803	0.9345:0.0:0.0655:0.0	.	185;189	P61073;P61073-2	CXCR4_HUMAN;.	S	189;185;55	ENSP00000386884:I189S;ENSP00000241393:I185S	ENSP00000241393:I185S	I	-	2	0	CXCR4	136589414	0.962000	0.33011	0.834000	0.33040	0.470000	0.32858	6.178000	0.71968	1.161000	0.42604	-0.250000	0.11733	ATC	CXCR4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331734.1		-	ENST00000409817.1	Missense_Mutation	SNP	2 : 136872944 - 136872944 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	437	18
ZNF516	9658	broad.mit.edu	37	18	74090972	74090972	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74090972G>T	ENST00000443185.2	-	4	3415	c.3098C>A	c.(3097-3099)gCt>gAt	p.A1033D	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	1033					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGGCGCCCCAGCCACGCCGGG	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	34	33			NA	NA	18		NA											NA				74090972		1906	4091	5997	SO:0001583	missense			D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493	9658	9658		Zinc fingers, C2H2-type	28990	protein-coding gene	gene with protein product		615114			NA	9039502	Standard	NM_014643	NM_014643	NA	Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.3098C>A	18.37:g.74090972G>T	ENSP00000394757:p.Ala1033Asp	NA		37		.	.	.	.	.	.	.	.	.	.	G	2.797	-0.250111	0.05867	.	.	ENSG00000101493	ENST00000443185	T	0.10573	2.86	2.24	1.29	0.21616	.	0.919558	0.09263	N	0.826312	T	0.08447	0.0210	N	0.19112	0.55	0.09310	N	1	.	.	.	.	.	.	T	0.39663	-0.9603	8	0.87932	D	0	.	5.3938	0.16259	0.128:0.2057:0.6663:0.0	.	.	.	.	D	1033	ENSP00000394757:A1033D	ENSP00000394757:A1033D	A	-	2	0	ZNF516	72219960	0.000000	0.05858	0.004000	0.12327	0.102000	0.19082	0.294000	0.19047	0.226000	0.20979	0.486000	0.48141	GCT	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding			-	ENST00000443185.2	Missense_Mutation	SNP	18 : 74090972 - 74090972 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	426	62
HECA	51696	broad.mit.edu	37	6	139498117	139498117	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139498117G>A	ENST00000367658.2	+	4	1792	c.1507G>A	c.(1507-1509)Gac>Aac	p.D503N	RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000590219.1_RNA|RP1-225E12.2_ENST00000585447.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	503					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GCCGGTGATCGACGTGAGGAT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	112	121			NA	NA	6		NA											NA				139498117		2203	4300	6503	SO:0001583	missense			AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406	51696	51696			21041	protein-coding gene	gene with protein product		607977			NA	11696983, 19643820	Standard	NM_016217	NM_016217	NA	Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.1507G>A	6.37:g.139498117G>A	ENSP00000356630:p.Asp503Asn	NA		37	CCDS5194.1	.	.	.	.	.	.	.	.	.	.	G	35	5.586932	0.96578	.	.	ENSG00000112406	ENST00000367658	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.56558	0.1993	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.51356	-0.8716	9	0.25106	T	0.35	.	20.4561	0.99145	0.0:0.0:1.0:0.0	.	503	Q9UBI9	HDC_HUMAN	N	503	.	ENSP00000356630:D503N	D	+	1	0	HECA	139539810	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.847000	0.97988	0.591000	0.81541	GAC	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042456.1		+	ENST00000367658.2	Missense_Mutation	SNP	6 : 139498117 - 139498117 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	181	33
PBX1	5087	broad.mit.edu	37	1	164761883	164761883	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:164761883G>T	ENST00000559240.1	+	3	418	c.418G>T	c.(418-420)Ggt>Tgt	p.G140C	PBX1_ENST00000420696.2_Missense_Mutation_p.G140C|PBX1_ENST00000560641.1_Missense_Mutation_p.G35C|PBX1_ENST00000540236.1_Missense_Mutation_p.G140C|PBX1_ENST00000540246.1_Missense_Mutation_p.G35C|PBX1_ENST00000401534.1_Missense_Mutation_p.G140C|PBX1_ENST00000367897.1_Missense_Mutation_p.G140C			P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	140					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						TGGAGGGGCAGGTTCAGACAA	0.602		NA	T	TCF3, EWSR1	pre B-ALL, myoepithelioma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1q23	5087	pre-B-cell leukemia transcription factor 1		L, M	0													24	30	28			NA	NA	1		NA											NA				164761883		2203	4300	6503	SO:0001583	missense			M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630	5087	5087		Homeoboxes / TALE class	8632	protein-coding gene	gene with protein product		176310	pre-B-cell leukemia transcription factor 1		NA		Standard	NM_002585	NM_002585	NA	Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000559240.1:c.418G>T	1.37:g.164761883G>T	ENSP00000453188:p.Gly140Cys	NA	Q5T488	37	CCDS1246.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460001	0.84317	.	.	ENSG00000185630	ENST00000340699;ENST00000420696;ENST00000367897;ENST00000540236;ENST00000401534;ENST00000540246	T;D;D;D;D;D	0.89552	0.82;-2.43;-2.3;-2.44;-2.3;-2.53	5.23	5.23	0.72850	PBX (1);	0.048778	0.85682	D	0.000000	D	0.89476	0.6726	L	0.46157	1.445	0.09310	N	1.0	P;P;P;P;P	0.48089	0.783;0.633;0.905;0.755;0.865	P;P;P;P;P	0.55667	0.684;0.726;0.605;0.726;0.781	D	0.89976	0.4097	9	0.54805	T	0.06	-8.2112	18.3959	0.90497	0.0:0.0:1.0:0.0	.	35;140;140;140;140	B7Z774;A8K5V0;F5H4U9;P40424;Q53YC7	.;.;.;PBX1_HUMAN;.	C	140;140;140;140;140;35	ENSP00000341455:G140C;ENSP00000405890:G140C;ENSP00000356872:G140C;ENSP00000439943:G140C;ENSP00000384856:G140C;ENSP00000440869:G35C	ENSP00000341455:G140C	G	+	1	0	PBX1	163028507	1.000000	0.71417	0.823000	0.32752	0.934000	0.57294	4.592000	0.61027	2.405000	0.81733	0.563000	0.77884	GGT	PBX1-012	NOVEL	not_organism_supported|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417688.1		+	ENST00000559240.1	Missense_Mutation	SNP	1 : 164761883 - 164761883 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	322	90
NOC2L	26155	broad.mit.edu	37	1	892379	892379	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:892379C>T	ENST00000327044.6	-	4	430	c.381G>A	c.(379-381)gcG>gcA	p.A127A	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	127						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CTCCTTCCTCCGCTCCATCCT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	130	129			NA	NA	1		NA											NA				892379		2203	4300	6503	SO:0001819	synonymous_variant			AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976	26155	26155			24517	protein-coding gene	gene with protein product	novel INHAT repressor, protein phosphatase 1, regulatory subunit 12	610770			NA		Standard	NM_015658	NM_015658	NA	Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.381G>A	1.37:g.892379C>T		NA	Q5SVA3|Q9BTN6	37	CCDS3.1																																																																																			NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097869.1		-	ENST00000327044.6	Silent	SNP	1 : 892379 - 892379 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	775	168
MARCH6	10299	broad.mit.edu	37	5	10391791	10391791	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10391791G>T	ENST00000274140.5	+	7	846	c.714G>T	c.(712-714)gaG>gaT	p.E238D	MARCH6_ENST00000449913.2_Missense_Mutation_p.E190D|MARCH6_ENST00000503788.1_Missense_Mutation_p.E133D	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	238					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						acaatgaggaggaagatgaCG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	101	112			NA	NA	5		NA											NA				10391791		2203	4300	6503	SO:0001583	missense			AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495	10299	10299		MARCH membrane-associated ring fingers, RING-type (C3HC4) zinc fingers	30550	protein-coding gene	gene with protein product		613297	membrane-associated ring finger (C3HC4) 6		NA	14722266	Standard	NM_005885	NM_001270660	NA	Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.714G>T	5.37:g.10391791G>T	ENSP00000274140:p.Glu238Asp	NA	A5PKZ4|D3DTC8|O14670|Q86X77	37	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657716	0.29425	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140	T;T;T	0.47869	1.84;0.83;1.82	6.02	0.565	0.17309	.	0.147552	0.64402	N	0.000012	T	0.17238	0.0414	N	0.03608	-0.345	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.06041	-1.0849	10	0.12430	T	0.62	-6.7228	4.8495	0.13530	0.243:0.0:0.2982:0.4588	.	133;190;238	B4DKJ2;B4DT33;O60337	.;.;MARH6_HUMAN	D	190;133;238	ENSP00000414643:E190D;ENSP00000425930:E133D;ENSP00000274140:E238D	ENSP00000274140:E238D	E	+	3	2	MARCH6	10444791	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	1.545000	0.36169	0.130000	0.18549	0.655000	0.94253	GAG	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366919.2		+	ENST00000274140.5	Missense_Mutation	SNP	5 : 10391791 - 10391791 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	211	14
ZNF827	152485	broad.mit.edu	37	4	146824292	146824292	+	Missense_Mutation	SNP	G	G	A	rs149206051		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146824292G>A	ENST00000508784.1	-	2	346	c.119C>T	c.(118-120)cCg>cTg	p.P40L	ZNF827_ENST00000379448.4_Missense_Mutation_p.P40L|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	40					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TGCTTCTGACGGAGTCTCTGA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	LEU/PRO	0,4406		0,0,2203	88	91	90		119	5.7	1	4	dbSNP_134	90	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ZNF827	NM_178835.3	98	0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154	probably-damaging	40/1078	146824292	2,13004	2203	4300	6503	SO:0001583	missense			AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612	152485	152485		Zinc fingers, C2H2-type	27193	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_178835	NM_178835	NA	Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.119C>T	4.37:g.146824292G>A	ENSP00000421863:p.Pro40Leu	NA	B7ZL52|Q7Z4S7|Q8N279	37		.	.	.	.	.	.	.	.	.	.	G	18.39	3.612703	0.66672	0.0	2.33E-4	ENSG00000151612	ENST00000508784;ENST00000379448;ENST00000281318	T;T	0.09163	3.01;3.05	5.69	5.69	0.88448	.	0.048635	0.85682	D	0.000000	T	0.21022	0.0506	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.62014	0.791;0.897	T	0.01146	-1.1437	10	0.72032	D	0.01	-16.9029	19.8182	0.96579	0.0:0.0:1.0:0.0	.	40;40	Q17R98;Q17R98-2	ZN827_HUMAN;.	L	40;40;39	ENSP00000421863:P40L;ENSP00000368761:P40L	ENSP00000281318:P39L	P	-	2	0	ZNF827	147043742	1.000000	0.71417	0.956000	0.39512	0.958000	0.62258	5.679000	0.68160	2.700000	0.92200	0.561000	0.74099	CCG	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000364654.2		-	ENST00000508784.1	Missense_Mutation	SNP	4 : 146824292 - 146824292 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	471	104
F2RL1	2150	broad.mit.edu	37	5	76129450	76129450	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76129450G>A	ENST00000296677.4	+	2	1224	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	340					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CAGCTGCATCGACCCCTTTGT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													370	362	365			NA	NA	5		NA											NA				76129450		2203	4300	6503	SO:0001583	missense			BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251	2150	2150		GPCR / Class A : Protease activated receptors	3538	protein-coding gene	gene with protein product	proteinase-activated receptor-2	600933		GPR11	NA	7937743, 7556175	Standard		NM_005242	NA	Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.1018G>A	5.37:g.76129450G>A	ENSP00000296677:p.Asp340Asn	NA	Q13317|Q13346	37	CCDS4033.1	.	.	.	.	.	.	.	.	.	.	G	34	5.322223	0.95708	.	.	ENSG00000164251	ENST00000296677	T	0.53857	0.6	5.62	5.62	0.85841	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.73179	0.3554	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72010	-0.4419	9	.	.	.	-37.5292	19.6481	0.95790	0.0:0.0:1.0:0.0	.	340	P55085	PAR2_HUMAN	N	340	ENSP00000296677:D340N	.	D	+	1	0	F2RL1	76165206	1.000000	0.71417	0.960000	0.40013	0.960000	0.62799	9.808000	0.99193	2.644000	0.89710	0.655000	0.94253	GAC	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219957.2		+	ENST00000296677.4	Missense_Mutation	SNP	5 : 76129450 - 76129450 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2834	530
MAPK15	225689	broad.mit.edu	37	8	144801568	144801568	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144801568C>T	ENST00000338033.4	+	7	756	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	MAPK15_ENST00000395107.4_Missense_Mutation_p.R230W|MAPK15_ENST00000395108.2_Missense_Mutation_p.R213W	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	213	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGAGATGCTGCGGGGGAGACC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	48	48			NA	NA	8		NA											NA				144801568		2203	4300	6503	SO:0001583	missense			AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085	225689	225689		Mitogen-activated protein kinase cascade / Kinases	24667	protein-coding gene	gene with protein product	extracellular signal regulated kinase 8				NA	11875070	Standard	NM_139021	XM_006716528	NA	Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.637C>T	8.37:g.144801568C>T	ENSP00000337691:p.Arg213Trp	NA	Q2TCF9|Q8N362	37	CCDS6409.2	.	.	.	.	.	.	.	.	.	.	c	18.25	3.583449	0.65992	.	.	ENSG00000181085	ENST00000338033;ENST00000395107;ENST00000395108	T;T;T	0.43688	0.94;0.94;0.94	4.14	1.08	0.20341	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.233835	0.36134	N	0.002761	T	0.57184	0.2036	L	0.59436	1.845	0.32909	D	0.514219	D	0.89917	1.0	D	0.74348	0.983	T	0.67440	-0.5670	10	0.56958	D	0.05	-14.6158	13.9176	0.63908	0.0:0.561:0.439:0.0	.	213	Q8TD08	MK15_HUMAN	W	213;230;213	ENSP00000337691:R213W;ENSP00000378539:R230W;ENSP00000378540:R213W	ENSP00000337691:R213W	R	+	1	2	MAPK15	144873556	0.112000	0.22096	0.564000	0.28396	0.677000	0.39632	1.434000	0.34958	0.008000	0.14787	0.491000	0.48974	CGG	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000300348.1		+	ENST00000338033.4	Missense_Mutation	SNP	8 : 144801568 - 144801568 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	41
TLN1	7094	broad.mit.edu	37	9	35715139	35715139	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35715139G>A	ENST00000314888.9	-	21	3024	c.2671C>T	c.(2671-2673)Cgg>Tgg	p.R891W	TLN1_ENST00000540444.1_Missense_Mutation_p.R891W	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	891					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCTGCCTCCCGCAGCCGCTGC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	37	35			NA	NA	9		NA											NA				35715139		2199	4291	6490	SO:0001583	missense			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076	7094	7094			11845	protein-coding gene	gene with protein product		186745		TLN	NA	7635475, 10610730	Standard	NM_006289	NM_006289	NA	Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.2671C>T	9.37:g.35715139G>A	ENSP00000316029:p.Arg891Trp	NA	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	37	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324828	0.81580	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.71461	-0.57;-0.57	5.67	3.7	0.42460	.	0.000000	0.85682	D	0.000000	D	0.83362	0.5238	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.85871	0.1416	10	0.72032	D	0.01	-18.1456	13.4827	0.61345	0.0:0.0:0.5988:0.4011	.	891	Q9Y490	TLN1_HUMAN	W	891	ENSP00000316029:R891W;ENSP00000442981:R891W	ENSP00000316029:R891W	R	-	1	2	TLN1	35705139	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	2.674000	0.46867	1.361000	0.45981	0.561000	0.74099	CGG	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052353.2		-	ENST00000314888.9	Missense_Mutation	SNP	9 : 35715139 - 35715139 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	409	65
SEC31B	25956	broad.mit.edu	37	10	102265204	102265204	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102265204G>A	ENST00000370345.3	-	10	1190	c.1093C>T	c.(1093-1095)Cca>Tca	p.P365S	SEC31B_ENST00000451524.1_Missense_Mutation_p.P365S	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	365					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		ACTTGCTCTGGCACCTGCAGT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	156	154			NA	NA	10		NA											NA				102265204		2203	4300	6503	SO:0001583	missense			AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826	25956	25956		WD repeat domain containing	23197	protein-coding gene	gene with protein product		610258	SEC31-like 2 (S. cerevisiae)	SEC31L2	NA	16495487	Standard	NM_015490	NM_015490	NA	Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.1093C>T	10.37:g.102265204G>A	ENSP00000359370:p.Pro365Ser	NA	B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	37	CCDS7495.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117907	0.77323	.	.	ENSG00000075826	ENST00000370345;ENST00000451524	T;T	0.57907	0.62;0.37	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.65004	0.2650	M	0.79805	2.47	0.80722	D	1	P;P	0.38800	0.648;0.517	B;B	0.43658	0.426;0.191	T	0.67608	-0.5627	10	0.56958	D	0.05	-12.2986	19.0888	0.93217	0.0:0.0:1.0:0.0	.	364;365	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	S	365	ENSP00000359370:P365S;ENSP00000391178:P365S	ENSP00000359370:P365S	P	-	1	0	SEC31B	102255194	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.386000	0.59620	2.757000	0.94681	0.561000	0.74099	CCA	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051198.1		-	ENST00000370345.3	Missense_Mutation	SNP	10 : 102265204 - 102265204 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	916	191
ATP6AP1	537	broad.mit.edu	37	X	153663798	153663798	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153663798C>A	ENST00000369762.2	+	9	1211	c.1150C>A	c.(1150-1152)Ctc>Atc	p.L384I		NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	384					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGTAGTCTCCTCGTGGCCCG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	49	51			NA	NA	X		NA											NA				153663798		2203	4300	6503	SO:0001583	missense			D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553	537	537			868	protein-coding gene	gene with protein product		300197	ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1	ATP6S1, ATP6IP1	NA	8733135, 8281148	Standard	NM_001183	NM_001183	NA	Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.1150C>A	X.37:g.153663798C>A	ENSP00000358777:p.Leu384Ile	NA	A6ZKI4	37	CCDS35451.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195889	0.78902	.	.	ENSG00000071553	ENST00000369762;ENST00000445849	.	.	.	5.69	4.81	0.61882	.	0.059264	0.64402	D	0.000001	T	0.79393	0.4438	M	0.82823	2.61	0.42872	D	0.994145	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81165	-0.1057	9	0.52906	T	0.07	-16.6749	12.5541	0.56244	0.1672:0.8328:0.0:0.0	.	344;384	B3KR70;Q15904	.;VAS1_HUMAN	I	384;208	.	ENSP00000358777:L384I	L	+	1	0	ATP6AP1	153316992	1.000000	0.71417	0.880000	0.34516	0.390000	0.30446	5.372000	0.66156	1.118000	0.41863	0.596000	0.82720	CTC	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000081639.4		+	ENST00000369762.2	Missense_Mutation	SNP	X : 153663798 - 153663798 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	225	63
SETD5	55209	broad.mit.edu	37	3	9486952	9486952	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9486952C>T	ENST00000406341.1	+	11	1598	c.1408C>T	c.(1408-1410)Cca>Tca	p.P470S	SETD5_ENST00000302463.6_Missense_Mutation_p.P372S|SETD5_ENST00000407969.1_Missense_Mutation_p.P489S|SETD5_ENST00000402198.1_Missense_Mutation_p.P470S|SETD5_ENST00000402466.1_Missense_Mutation_p.P372S			Q9C0A6	SETD5_HUMAN	SET domain containing 5	470										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		ACAAGAAGTTCCAGAAAAAGT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	58	57			NA	NA	3		NA											NA				9486952		1936	4159	6095	SO:0001583	missense			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137	55209	55209			25566	protein-coding gene	gene with protein product		615743			NA	11214970	Standard	XM_371614	XM_005265299	NA	Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.1408C>T	3.37:g.9486952C>T	ENSP00000383939:p.Pro470Ser	NA	Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	37	CCDS46741.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.66|16.66	3.184905|3.184905	0.57909|0.57909	.|.	.|.	ENSG00000168137|ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463|ENST00000399686	D;D;D;D;D|.	0.92647|.	-2.76;-3.08;-2.76;-2.75;-3.08|.	5.63|5.63	4.74|4.74	0.60224|0.60224	.|.	0.113194|.	0.64402|.	D|.	0.000010|.	T|T	0.70631|0.70631	0.3246|0.3246	L|L	0.59436|0.59436	1.845|1.845	0.41185|0.41185	D|D	0.986264|0.986264	B;B;B;B;B|.	0.23377|.	0.009;0.003;0.005;0.084;0.0|.	B;B;B;B;B|.	0.23419|.	0.046;0.004;0.01;0.031;0.001|.	T|T	0.70396|0.70396	-0.4883|-0.4883	10|5	0.66056|.	D|.	0.02|.	-2.1099|-2.1099	16.7691|16.7691	0.85532|0.85532	0.0:0.8709:0.129:0.0|0.0:0.8709:0.129:0.0	.|.	139;372;372;470;489|.	B3KXG4;B3KRD6;Q9C0A6-3;Q9C0A6;E7EWN3|.	.;.;.;SETD5_HUMAN;.|.	S|F	470;372;470;489;372|137	ENSP00000385852:P470S;ENSP00000384429:P372S;ENSP00000383939:P470S;ENSP00000384114:P489S;ENSP00000302028:P372S|.	ENSP00000302028:P372S|.	P|S	+|+	1|2	0|0	SETD5|SETD5	9461952|9461952	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.916000|0.916000	0.54674|0.54674	1.249000|1.249000	0.32839|0.32839	1.480000|1.480000	0.48289|0.48289	0.655000|0.655000	0.94253|0.94253	CCA|TCC	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318425.1		+	ENST00000406341.1	Missense_Mutation	SNP	3 : 9486952 - 9486952 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	88	23
LRFN1	57622	broad.mit.edu	37	19	39805339	39805339	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39805339A>G	ENST00000248668.4	-	1	637	c.638T>C	c.(637-639)gTc>gCc	p.V213A	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	213						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GTCCAGACGGACCAGCTTGTG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	51	48			NA	NA	19		NA											NA				39805339		2158	4276	6434	SO:0001583	missense			BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011	57622	57622		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	29290	protein-coding gene	gene with protein product		612807			NA	10819331, 16828986	Standard	NM_020862	NM_020862	NA	Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.638T>C	19.37:g.39805339A>G	ENSP00000248668:p.Val213Ala	NA	Q8TBS9	37	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	A	1.314	-0.601228	0.03744	.	.	ENSG00000128011	ENST00000248668	T	0.57273	0.41	4.62	3.61	0.41365	.	0.000000	0.38720	N	0.001581	T	0.31358	0.0794	N	0.25485	0.75	0.47819	D	0.999529	B	0.20052	0.041	B	0.18871	0.023	T	0.13255	-1.0516	10	0.02654	T	1	.	8.0904	0.30797	0.9026:0.0:0.0974:0.0	.	213	Q9P244	LRFN1_HUMAN	A	213	ENSP00000248668:V213A	ENSP00000248668:V213A	V	-	2	0	LRFN1	44497179	0.998000	0.40836	0.957000	0.39632	0.993000	0.82548	3.704000	0.54815	0.810000	0.34279	0.454000	0.30748	GTC	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463835.1		-	ENST00000248668.4	Missense_Mutation	SNP	19 : 39805339 - 39805339 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	175	43
USP40	55230	broad.mit.edu	37	2	234407224	234407224	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234407224G>T	ENST00000251722.6	-	23	2799	c.2682C>A	c.(2680-2682)tgC>tgA	p.C894*	USP40_ENST00000450966.1_Nonsense_Mutation_p.C906*|USP40_ENST00000427112.2_Nonsense_Mutation_p.C894*|USP40_ENST00000409945.1_Nonsense_Mutation_p.C70*			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	894					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CAGCTTCATAGCACCAATCCA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	70	72			NA	NA	2		NA											NA				234407224		1866	4093	5959	SO:0001587	stop_gained			AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982	55230	55230		Ubiquitin-specific peptidases	20069	protein-coding gene	gene with protein product		610570	ubiquitin specific protease 40		NA	12838346	Standard	XM_114294	NM_018218	NA	Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000251722.6:c.2682C>A	2.37:g.234407224G>T	ENSP00000251722:p.Cys894*	NA	Q6NX38|Q70EL0	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.785296|7.785296	0.98489|0.98489	.|.	.|.	ENSG00000085982|ENSG00000085982	ENST00000430158|ENST00000450966;ENST00000251722;ENST00000427112;ENST00000409945	.|.	.|.	.|.	5.14|5.14	1.29|1.29	0.21616|0.21616	.|.	.|0.120079	.|0.85682	.|D	.|0.000000	T|.	0.17152|.	0.0412|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.38308|.	-0.9667|.	3|.	.|0.02654	.|T	.|1	.|.	8.245|8.245	0.31682|0.31682	0.3141:0.0:0.6859:0.0|0.3141:0.0:0.6859:0.0	.|.	.|.	.|.	.|.	D|X	70|906;894;894;70	.|.	.|ENSP00000251722:C894X	A|C	-|-	2|3	0|2	USP40|USP40	234071963|234071963	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.069000|1.069000	0.30641|0.30641	0.273000|0.273000	0.22049|0.22049	0.555000|0.555000	0.69702|0.69702	GCT|TGC	USP40-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000330042.3		-	ENST00000251722.6	Nonsense_Mutation	SNP	2 : 234407224 - 234407224 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	180	45
FASN	2194	broad.mit.edu	37	17	80045873	80045873	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80045873G>A	ENST00000306749.2	-	18	3041	c.2823C>T	c.(2821-2823)tcC>tcT	p.S941S		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	941					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CGAAGGCACGGGAGGCCTCCA	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(59;314 1043 11189 28578 32273)							NA				0													52	51	52			NA	NA	17		NA											NA				80045873		2200	4298	6498	SO:0001819	synonymous_variant			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2194	2194	2.3.1.85	Short chain dehydrogenase/reductase superfamily / Atypical members	3594	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 27X, member 1	600212			NA	7835891, 7567999, 19027726	Standard	NM_004104	NM_004104	NA	Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.2823C>T	17.37:g.80045873G>A		NA	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	37	CCDS11801.1																																																																																			FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442369.1		-	ENST00000306749.2	Silent	SNP	17 : 80045873 - 80045873 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	579	123
PITPNM2	57605	broad.mit.edu	37	12	123485384	123485384	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123485384G>A	ENST00000280562.5	-	9	1370	c.1165C>T	c.(1165-1167)Cgc>Tgc	p.R389C	PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000320201.4_Missense_Mutation_p.R389C|PITPNM2_ENST00000392428.1_Missense_Mutation_p.R110C|PITPNM2_ENST00000542749.1_Missense_Mutation_p.R389C|PITPNM2_ENST00000546049.1_Missense_Mutation_p.R427C			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	389					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GCACCCTGGCGGTACAGACCA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	48	49			NA	NA	12		NA											NA				123485384		2203	4300	6503	SO:0001583	missense			AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975	57605	57605			21044	protein-coding gene	gene with protein product		608920			NA	10022914	Standard	NM_020845	XM_005253582	NA	Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000280562.5:c.1165C>T	12.37:g.123485384G>A	ENSP00000280562:p.Arg389Cys	NA	Q9P271	37		.	.	.	.	.	.	.	.	.	.	G	12.80	2.045374	0.36085	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.47528	2.03;2.03;0.84;2.03	4.51	3.6	0.41247	.	0.826438	0.11094	N	0.600425	T	0.55513	0.1925	L	0.55213	1.73	0.31186	N	0.701536	B;P;P	0.52170	0.007;0.951;0.951	B;P;B	0.51229	0.002;0.663;0.326	T	0.60495	-0.7252	10	0.72032	D	0.01	-14.2141	13.851	0.63496	0.0:0.1552:0.8448:0.0	.	389;389;389	A5D8U3;Q9BZ72-2;Q9BZ72	.;.;PITM2_HUMAN	C	389;389;110;389	ENSP00000280562:R389C;ENSP00000322218:R389C;ENSP00000376223:R110C;ENSP00000437611:R389C	ENSP00000280562:R389C	R	-	1	0	PITPNM2	122051337	0.760000	0.28428	0.907000	0.35723	0.291000	0.27294	2.792000	0.47837	1.179000	0.42884	0.561000	0.74099	CGC	PITPNM2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000401341.1		-	ENST00000280562.5	Missense_Mutation	SNP	12 : 123485384 - 123485384 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	38
DCHS2	54798	broad.mit.edu	37	4	155254182	155254182	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155254182C>T	ENST00000357232.4	-	9	1680	c.1681G>A	c.(1681-1683)Gtg>Atg	p.V561M	DCHS2_ENST00000339452.1_Missense_Mutation_p.V1060M	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	NA	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGAGGATGCACGCCTTGGTCC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	62	62			NA	NA	4		NA											NA				155254182		2203	4300	6503	SO:0001583	missense			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410	54798	54798		Cadherins / Cadherin-related	23111	protein-coding gene	gene with protein product	cadherin-related family member 7	612486	cadherin-like 27, dachsous 2 (Drosophila)	CDH27, PCDH23	NA	15003449	Standard	NM_001142552	NM_017639	NA	Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1681G>A	4.37:g.155254182C>T	ENSP00000349768:p.Val561Met	NA	Q4W5P9|Q6ZS61|Q9NXU8	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225699	0.39300	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.52057	0.68;0.68	5.73	-2.6	0.06190	Cadherin (4);Cadherin-like (1);	1.191250	0.06159	N	0.675671	T	0.33933	0.0880	L	0.41356	1.27	0.09310	N	0.999999	P;P	0.36110	0.537;0.476	B;B	0.31686	0.125;0.134	T	0.23368	-1.0190	10	0.44086	T	0.13	.	7.315	0.26495	0.0:0.1804:0.3299:0.4897	.	1060;561	E9PC11;Q6V1P9	.;PCD23_HUMAN	M	561;1060;1060	ENSP00000349768:V561M;ENSP00000345062:V1060M	ENSP00000345062:V1060M	V	-	1	0	DCHS2	155473632	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.289000	0.08365	-0.723000	0.04915	-0.136000	0.14681	GTG	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365281.2		-	ENST00000357232.4	Missense_Mutation	SNP	4 : 155254182 - 155254182 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	403	83
ZNF320	162967	broad.mit.edu	37	19	53385152	53385152	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53385152C>T	ENST00000595635.1	-	8	728	c.227G>A	c.(226-228)aGa>aAa	p.R76K	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.R76K|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		ACTTGCTTGTCTCTGCAATGT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	158	159			NA	NA	19		NA											NA				53385152		2203	4300	6503	SO:0001583	missense			AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986	162967	162967		Zinc fingers, C2H2-type, -	13842	protein-coding gene	gene with protein product		606427			NA	11536051	Standard	NM_207333	XM_006723059	NA	Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.227G>A	19.37:g.53385152C>T	ENSP00000473091:p.Arg76Lys	NA	Q8NDR6	37	CCDS33095.1	.	.	.	.	.	.	.	.	.	.	-	8.622	0.891653	0.17613	.	.	ENSG00000182986	ENST00000391781	T	0.06528	3.29	1.18	1.18	0.20946	Krueppel-associated box (1);	.	.	.	.	T	0.04815	0.0130	L	0.50333	1.59	0.09310	N	1	P	0.40476	0.718	B	0.28385	0.089	T	0.37596	-0.9699	9	0.34782	T	0.22	.	5.7807	0.18304	0.0:1.0:0.0:0.0	.	76	A2RRD8	ZN320_HUMAN	K	76	ENSP00000375660:R76K	ENSP00000375660:R76K	R	-	2	0	ZNF320	58076964	0.000000	0.05858	0.009000	0.14445	0.041000	0.13682	-0.289000	0.08365	0.955000	0.37878	0.184000	0.17185	AGA	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463771.1		-	ENST00000595635.1	Missense_Mutation	SNP	19 : 53385152 - 53385152 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1051	216
PCSK4	54760	broad.mit.edu	37	19	1488000	1488000	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1488000C>A	ENST00000300954.5	-	4	540	c.479G>T	c.(478-480)gGc>gTc	p.G160V	PCSK4_ENST00000587784.1_5'UTR	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	160	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTCTCGATGCCATCGTCCAG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	89	89			NA	NA	19		NA											NA				1488000		2203	4300	6503	SO:0001583	missense			AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257	54760	54760			8746	protein-coding gene	gene with protein product		600487			NA	7782070	Standard	NM_017573	XM_005259586	NA	Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.479G>T	19.37:g.1488000C>A	ENSP00000300954:p.Gly160Val	NA	Q8IY88|Q9UF79	37	CCDS12069.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.71|16.71	3.198276|3.198276	0.58126|0.58126	.|.	.|.	ENSG00000115257|ENSG00000115257	ENST00000441747|ENST00000300954	.|D	.|0.97710	.|-4.5	2.67|2.67	2.67|2.67	0.31697|0.31697	.|Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	.|0.000000	.|0.50627	.|D	.|0.000109	D|D	0.98998|0.98998	0.9658|0.9658	H|H	0.97186|0.97186	3.955|3.955	0.80722|0.80722	D|D	1|1	P|D	0.43750|0.89917	0.816|1.0	B|D	0.26864|0.97110	0.074|1.0	D|D	0.98703|0.98703	1.0701|1.0701	8|10	0.13853|0.87932	T|D	0.58|0	.|.	11.0356|11.0356	0.47799|0.47799	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2|160	B3KQ28|Q6UW60	.|PCSK4_HUMAN	S|V	2|160	.|ENSP00000300954:G160V	ENSP00000402772:A2S|ENSP00000300954:G160V	A|G	-|-	1|2	0|0	PCSK4|PCSK4	1439000|1439000	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.692000|0.692000	0.40212|0.40212	7.471000|7.471000	0.80985|0.80985	1.501000|1.501000	0.48654|0.48654	0.491000|0.491000	0.48974|0.48974	GCA|GGC	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449703.1		-	ENST00000300954.5	Missense_Mutation	SNP	19 : 1488000 - 1488000 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	932	174
C1orf158	93190	broad.mit.edu	37	1	12819304	12819304	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12819304G>A	ENST00000288048.5	+	3	503	c.287G>A	c.(286-288)aGc>aAc	p.S96N	C1orf158_ENST00000376210.3_Missense_Mutation_p.S58N	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	96										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TACCTGATCAGCACCTATGAC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													206	206	206			NA	NA	1		NA											NA				12819304		2203	4300	6503	SO:0001583	missense			BX647383	CCDS147.1	1p36.21	2008-02-05			ENSG00000157330	ENSG00000157330	93190	93190			28567	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152290	NM_152290	NA	Approved	MGC35194	uc001auh.3	Q8N1D5	OTTHUMG00000001888	ENST00000288048.5:c.287G>A	1.37:g.12819304G>A	ENSP00000288048:p.Ser96Asn	NA	Q5VUY4	37	CCDS147.1	.	.	.	.	.	.	.	.	.	.	.	19.32	3.804930	0.70682	.	.	ENSG00000157330	ENST00000288048;ENST00000376210	T;T	0.62788	0.0;0.25	5.17	5.17	0.71159	.	0.115133	0.56097	D	0.000026	T	0.78898	0.4356	M	0.79475	2.455	0.50171	D	0.999856	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.996	T	0.81625	-0.0848	10	0.87932	D	0	-32.5078	14.1817	0.65578	0.0:0.0:1.0:0.0	.	96;96	B4DQE0;Q8N1D5	.;CA158_HUMAN	N	96;58	ENSP00000288048:S96N;ENSP00000365383:S58N	ENSP00000288048:S96N	S	+	2	0	C1orf158	12741891	0.991000	0.36638	0.998000	0.56505	0.605000	0.37080	2.100000	0.41777	2.428000	0.82296	0.655000	0.94253	AGC	C1orf158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005325.1		+	ENST00000288048.5	Missense_Mutation	SNP	1 : 12819304 - 12819304 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1147	55
SH3BP1	23616	broad.mit.edu	37	22	38043498	38043498	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38043498G>A	ENST00000357436.4	+	13	1482	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	SH3BP1_ENST00000599616.1_Missense_Mutation_p.R326H|SH3BP1_ENST00000442465.2_Missense_Mutation_p.R390H|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000336738.5_Missense_Mutation_p.R390H	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	390	Rho-GAP.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GTGTGCAGCCGCCTACCCCCC	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	19	17			NA	NA	22		NA											NA				38043498		2200	4297	6497	SO:0001583	missense				CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092	23616	23616		Rho GTPase activating proteins	10824	protein-coding gene	gene with protein product					NA	10591208, 12029088	Standard	NM_018957	NM_018957	NA	Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.1169G>A	22.37:g.38043498G>A	ENSP00000350018:p.Arg390His	NA	Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	37	CCDS13952.2	.	.	.	.	.	.	.	.	.	.	G	11.59	1.683971	0.29872	.	.	ENSG00000100092	ENST00000357436;ENST00000336738;ENST00000442465;ENST00000397014	T;T;T	0.18960	2.18;2.18;2.18	5.52	3.42	0.39159	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.214766	0.32624	N	0.005850	T	0.36853	0.0982	L	0.53249	1.67	0.09310	N	1	B;D;B;P;D	0.89917	0.043;1.0;0.047;0.919;1.0	B;D;B;B;D	0.74348	0.013;0.983;0.012;0.189;0.983	T	0.04961	-1.0915	10	0.72032	D	0.01	.	9.3123	0.37912	0.2242:0.0:0.7758:0.0	.	390;304;326;390;304	F5GZA8;E7EUD3;Q6ZT62;Q9Y3L3;Q6ZTJ5	.;.;.;3BP1_HUMAN;.	H	390;390;390;304	ENSP00000350018:R390H;ENSP00000337213:R390H;ENSP00000395126:R390H	ENSP00000337213:R390H	R	+	2	0	SH3BP1	36373444	0.037000	0.19845	0.997000	0.53966	0.303000	0.27691	1.677000	0.37576	1.353000	0.45828	-0.439000	0.05793	CGC	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075884.4		+	ENST00000357436.4	Missense_Mutation	SNP	22 : 38043498 - 38043498 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	153	34
FAM160A2	84067	broad.mit.edu	37	11	6239851	6239851	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6239851C>A	ENST00000265978.4	-	8	1772	c.1414G>T	c.(1414-1416)Gag>Tag	p.E472*	FAM160A2_ENST00000449352.2_Nonsense_Mutation_p.E472*|FAM160A2_ENST00000524416.1_Nonsense_Mutation_p.E472*	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	472					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAGGCATGCTCTGGACGAGGT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	106	111			NA	NA	11		NA											NA				6239851		2201	4296	6497	SO:0001587	stop_gained				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009	84067	84067			25378	protein-coding gene	gene with protein product			chromosome 11 open reading frame 56	C11orf56	NA	11230166, 11214970	Standard	NM_032127	NM_001098794	NA	Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000265978.4:c.1414G>T	11.37:g.6239851C>A	ENSP00000265978:p.Glu472*	NA	Q9C0A4|Q9H0N3|Q9H624	37	CCDS7760.1	.	.	.	.	.	.	.	.	.	.	C	41	8.899205	0.98996	.	.	ENSG00000051009	ENST00000449352;ENST00000442917;ENST00000265978;ENST00000524416	.	.	.	5.39	5.39	0.77823	.	0.096661	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-19.5313	18.3197	0.90234	0.0:1.0:0.0:0.0	.	.	.	.	X	472;397;472;472	.	ENSP00000265978:E472X	E	-	1	0	FAM160A2	6196427	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.690000	0.68241	2.795000	0.96236	0.655000	0.94253	GAG	FAM160A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257229.2		-	ENST00000265978.4	Nonsense_Mutation	SNP	11 : 6239851 - 6239851 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	954	187
PANK2	80025	broad.mit.edu	37	20	3869814	3869814	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3869814C>T	ENST00000316562.4	+	1	73	c.67C>T	c.(67-69)Cta>Tta	p.L23L	PANK2_ENST00000497424.1_Intron	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	23					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTCTTCTGGGCTACACCGCCT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	20	22			NA	NA	20		NA											NA				3869814		2197	4298	6495	SO:0001819	synonymous_variant			AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	80025	80025	2.7.1.33		15894	protein-coding gene	gene with protein product	Hallervorden-Spatz syndrome	606157	neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)	C20orf48, NBIA1	NA	8944032, 11479594	Standard	NM_024960	XM_005260835	NA	Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.67C>T	20.37:g.3869814C>T		NA	B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	37	CCDS13071.2																																																																																			PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077793.2		+	ENST00000316562.4	Silent	SNP	20 : 3869814 - 3869814 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	69	12
LRRC47	57470	broad.mit.edu	37	1	3699296	3699296	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3699296A>G	ENST00000378251.1	-	5	1369	c.1342T>C	c.(1342-1344)Tac>Cac	p.Y448H		NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	448					translation		phenylalanine-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		AGACACGGGTAATTTTCATTT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	131	139			NA	NA	1		NA											NA				3699296		2203	4300	6503	SO:0001583	missense			AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764	57470	57470			29207	protein-coding gene	gene with protein product					NA	10574461	Standard	NM_020710	NM_020710	NA	Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.1342T>C	1.37:g.3699296A>G	ENSP00000367498:p.Tyr448His	NA	Q9ULN5	37	CCDS51.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.189190	0.78789	.	.	ENSG00000130764	ENST00000378251	T	0.54479	0.57	4.49	4.49	0.54785	B3/B4 tRNA-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.75488	0.3856	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80894	-0.1178	10	0.87932	D	0	-30.4893	12.9815	0.58567	1.0:0.0:0.0:0.0	.	448	Q8N1G4	LRC47_HUMAN	H	448	ENSP00000367498:Y448H	ENSP00000367498:Y448H	Y	-	1	0	LRRC47	3689156	1.000000	0.71417	0.843000	0.33291	0.986000	0.74619	8.820000	0.92003	1.669000	0.50854	0.402000	0.26972	TAC	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000009744.1		-	ENST00000378251.1	Missense_Mutation	SNP	1 : 3699296 - 3699296 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	405	62
RRP8	23378	broad.mit.edu	37	11	6622562	6622562	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6622562C>T	ENST00000534343.1	-	2	176				RRP8_ENST00000254605.6_Missense_Mutation_p.R245Q			O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	NA					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						CCCATCCAGCCGCTGTGCCAT	0.607		NA											C	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	8e-04	SNP								NA				0								C	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	28	28	28		734	5.8	0.8	11		28	0,8592		0,0,4296	no	missense	RRP8	NM_015324.3	43	0,1,6496	TT,TC,CC	NA	0.0,0.0227,0.0077	possibly-damaging	245/457	6622562	1,12993	2201	4296	6497	SO:0001627	intron_variant			AB007869	CCDS31411.1	11p15.4	2009-02-23	2009-02-23	2009-02-23	ENSG00000132275	ENSG00000132275	23378	23378			29030	protein-coding gene	gene with protein product	RRP8 methyltransferase homolog (S. cerevisiae)	615818	KIAA0409	KIAA0409	NA	9455477	Standard	NM_015324	NM_015324	NA	Approved		uc001med.3	O43159		ENST00000534343.1:c.100-557G>A	11.37:g.6622562C>T		NA	Q7KZ78|Q9BVM6	37		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.83	3.900420	0.72754	2.27E-4	0.0	ENSG00000132275	ENST00000254605;ENST00000533907	T;T	0.53206	0.63;0.63	5.85	5.85	0.93711	.	0.058855	0.64402	D	0.000002	T	0.32071	0.0817	N	0.20685	0.6	0.80722	D	1	P	0.44816	0.844	B	0.32149	0.141	T	0.17198	-1.0377	10	0.42905	T	0.14	-6.5464	18.7357	0.91753	0.0:1.0:0.0:0.0	.	245	O43159	RRP8_HUMAN	Q	245	ENSP00000254605:R245Q;ENSP00000436246:R245Q	ENSP00000254605:R245Q	R	-	2	0	RRP8	6579138	1.000000	0.71417	0.767000	0.31495	0.969000	0.65631	5.095000	0.64529	2.773000	0.95371	0.650000	0.86243	CGG	RRP8-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000384506.1		-	ENST00000534343.1	Intron	SNP	11 : 6622562 - 6622562 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	156	22
NELFCD	51497	broad.mit.edu	37	20	57566038	57566038	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57566038G>A	ENST00000602795.1	+	8	964	c.916G>A	c.(916-918)Ggg>Agg	p.G306R	NELFCD_ENST00000344018.3_Missense_Mutation_p.G297R	NM_198976.2	NP_945327.2			negative elongation factor complex member C/D	NA											NA						CCAGGCTCTCGGGGCCATGCT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	82	84			NA	NA	20		NA											NA				57566038		2203	4300	6503	SO:0001583	missense			AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158	51497	51497			15934	protein-coding gene	gene with protein product	trihydrophobin 1	605297	TH1-like (Drosophila homolog), TH1-like (Drosophila)	TH1L	NA	11030415, 11042152	Standard	NM_198976	NM_198976	NA	Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000602795.1:c.916G>A	20.37:g.57566038G>A	ENSP00000473290:p.Gly306Arg	NA		37	CCDS13473.2	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535348	0.85812	.	.	ENSG00000101158	ENST00000344018	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.59169	0.2174	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.57533	-0.7795	9	0.16896	T	0.51	-43.4778	20.3606	0.98856	0.0:0.0:1.0:0.0	.	306;297	E1P5H4;Q8IXH7	.;NELFD_HUMAN	R	297	.	ENSP00000342300:G297R	G	+	1	0	TH1L	56999433	1.000000	0.71417	0.731000	0.30826	0.655000	0.38815	9.751000	0.98889	2.817000	0.96982	0.557000	0.71058	GGG	NELFCD-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079909.3		+	ENST00000602795.1	Missense_Mutation	SNP	20 : 57566038 - 57566038 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	582	129
MYCN	4613	broad.mit.edu	37	2	16085728	16085728	+	Missense_Mutation	SNP	C	C	T	rs144939456		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:16085728C>T	ENST00000281043.3	+	3	1201	c.904C>T	c.(904-906)Cgt>Tgt	p.R302C		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	302					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CATCACTGTGCGTCCCAAGAA	0.582		NA	A		neuroblastoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		2	2p24.1	4613	v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)		O	0								C	CYS/ARG	0,4406		0,0,2203	103	83	90		904	4.1	0.9	2	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYCN	NM_005378.4	180	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	302/465	16085728	1,13005	2203	4300	6503	SO:0001583	missense			BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323	4613	4613		Basic helix-loop-helix proteins	7559	protein-coding gene	gene with protein product		164840		NMYC	NA		Standard	NM_005378	XM_006711886	NA	Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.904C>T	2.37:g.16085728C>T	ENSP00000281043:p.Arg302Cys	NA	Q6LDT9	37	CCDS1687.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896675	0.52121	0.0	1.16E-4	ENSG00000134323	ENST00000281043;ENST00000426211	D	0.81908	-1.55	4.94	4.05	0.47172	Transcription regulator Myc, N-terminal (1);	1.323720	0.05292	U	0.521372	D	0.91506	0.7318	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.82255	-0.0548	10	0.87932	D	0	-8.6368	14.9038	0.70703	0.1445:0.8555:0.0:0.0	.	302	P04198	MYCN_HUMAN	C	302;220	ENSP00000281043:R302C	ENSP00000281043:R302C	R	+	1	0	MYCN	16003179	1.000000	0.71417	0.862000	0.33874	0.447000	0.32167	2.112000	0.41892	1.203000	0.43233	0.655000	0.94253	CGT	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095469.2		+	ENST00000281043.3	Missense_Mutation	SNP	2 : 16085728 - 16085728 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	256	42
DSCAML1	57453	broad.mit.edu	37	11	117403205	117403205	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117403205G>T	ENST00000321322.6	-	4	725	c.724C>A	c.(724-726)Ctg>Atg	p.L242M	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	182	Ig-like C2-type 3.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GAGATGTACAGCCCGCCGTGG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	88	92			NA	NA	11		NA											NA				117403205		2201	4296	6497	SO:0001583	missense				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103	57453	57453		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	14656	protein-coding gene	gene with protein product		611782			NA	11453658	Standard	NM_020693	NM_020693	NA	Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.724C>A	11.37:g.117403205G>T	ENSP00000315465:p.Leu242Met	NA	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	37	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211823	0.79240	.	.	ENSG00000177103	ENST00000321322	D	0.92149	-2.98	4.88	4.88	0.63580	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.96213	0.8765	M	0.91972	3.26	0.58432	D	0.999998	D	0.76494	0.999	D	0.79784	0.993	D	0.96062	0.9039	9	0.87932	D	0	.	9.6034	0.39619	0.1263:0.0:0.8737:0.0	.	182	Q8TD84	DSCL1_HUMAN	M	242	ENSP00000315465:L242M	ENSP00000315465:L242M	L	-	1	2	DSCAML1	116908415	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.166000	0.71896	2.688000	0.91661	0.655000	0.94253	CTG	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392907.2		-	ENST00000321322.6	Missense_Mutation	SNP	11 : 117403205 - 117403205 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	380	16
MFSD11	79157	broad.mit.edu	37	17	74771152	74771152	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74771152G>T	ENST00000588460.1	+	11	2990	c.948G>T	c.(946-948)ctG>ctT	p.L316L	MFSD11_ENST00000355954.3_Silent_p.L264L|MFSD11_ENST00000590514.1_Silent_p.L316L|MFSD11_ENST00000336509.4_Silent_p.L316L|MFSD11_ENST00000590070.1_3'UTR|MFSD11_ENST00000593181.1_Silent_p.L264L|MFSD11_ENST00000586622.1_Silent_p.L316L	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	316						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						TGGGCATCCTGGTGCACTTCA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													182	166	172			NA	NA	17		NA											NA				74771152		2203	4300	6503	SO:0001819	synonymous_variant			BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931	79157	79157			25458	protein-coding gene	gene with protein product					NA	9358160	Standard	NM_024311	NM_001242532	NA	Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.948G>T	17.37:g.74771152G>T		NA	O43442|Q9NXI5	37	CCDS11750.1																																																																																			MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451516.1		+	ENST00000588460.1	Silent	SNP	17 : 74771152 - 74771152 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	908	182
MACF1	23499	broad.mit.edu	37	1	39851413	39851413	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39851413T>C	ENST00000372915.3	+	56	14258	c.14171T>C	c.(14170-14172)gTa>gCa	p.V4724A	MACF1_ENST00000317713.7_Missense_Mutation_p.V2657A|MACF1_ENST00000545844.1_Missense_Mutation_p.V2657A|MACF1_ENST00000361689.2_Missense_Mutation_p.V2657A|MACF1_ENST00000289893.4_Missense_Mutation_p.V3159A|MACF1_ENST00000567887.1_Missense_Mutation_p.V4756A|MACF1_ENST00000539005.1_Missense_Mutation_p.V2636A|MACF1_ENST00000564288.1_Missense_Mutation_p.V4719A			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4724					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAGAGGCTGTAAAGCAGCAA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	81	83			NA	NA	1		NA											NA				39851413		2203	4300	6503	SO:0001583	missense			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603	23499	23499		EF-hand domain containing	13664	protein-coding gene	gene with protein product	actin cross-linking factor, 620 kDa actin binding protein, macrophin 1, trabeculin-alpha, actin cross-linking family protein 7	608271			NA	7635207, 10529403	Standard	NM_033044	NM_012090	NA	Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.14171T>C	1.37:g.39851413T>C	ENSP00000362006:p.Val4724Ala	NA	E9PJT0|O75053|Q5VW20|Q8WXY2|Q9H540|Q9UKP0|Q9ULG9	37		.	.	.	.	.	.	.	.	.	.	T	27.6	4.846298	0.91277	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21	6.06	6.06	0.98353	.	0.000000	0.53938	D	0.000058	T	0.58538	0.2129	M	0.63843	1.955	0.49798	D	0.999821	D;D;D	0.65815	0.995;0.958;0.958	D;P;P	0.71184	0.972;0.747;0.761	T	0.60601	-0.7231	10	0.87932	D	0	.	16.6093	0.84858	0.0:0.0:0.0:1.0	.	4724;2657;2601	Q9UPN3;F8W8Q1;Q9UPN3-3	MACF1_HUMAN;.;.	A	2657;4724;2657;2657;2636;3159	ENSP00000439537:V2657A;ENSP00000362006:V4724A;ENSP00000354573:V2657A;ENSP00000313438:V2657A;ENSP00000444364:V2636A;ENSP00000289893:V3159A	ENSP00000289893:V3159A	V	+	2	0	MACF1	39624000	1.000000	0.71417	0.968000	0.41197	0.909000	0.53808	8.040000	0.89188	2.324000	0.78689	0.533000	0.62120	GTA	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000392096.1		+	ENST00000372915.3	Missense_Mutation	SNP	1 : 39851413 - 39851413 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	293	62
EHD2	30846	broad.mit.edu	37	19	48244498	48244498	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48244498C>T	ENST00000263277.3	+	6	1692	c.1441C>T	c.(1441-1443)Ctc>Ttc	p.L481F	EHD2_ENST00000538399.1_Missense_Mutation_p.L345F|EHD2_ENST00000540884.1_3'UTR	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	481	EF-hand.|EH.				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		GGGGACCAAGCTCCCCAACTC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	53	58			NA	NA	19		NA											NA				48244498		2203	4300	6503	SO:0001583	missense			AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422	30846	30846		EF-hand domain containing	3243	protein-coding gene	gene with protein product		605890		PAST2	NA	10673336	Standard		NM_014601	NA	Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.1441C>T	19.37:g.48244498C>T	ENSP00000263277:p.Leu481Phe	NA	B2RDH9|Q96CB6	37	CCDS12704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.966356|3.966356	0.74131|0.74131	.|.	.|.	ENSG00000024422|ENSG00000024422	ENST00000454483|ENST00000263277;ENST00000540364;ENST00000538399;ENST00000540884	.|T;T	.|0.49720	.|0.77;0.77	4.03|4.03	4.03|4.03	0.46877|0.46877	.|EPS15 homology (EH) (2);EF-hand-like domain (1);	.|0.000000	.|0.64402	.|D	.|0.000010	T|T	0.81616|0.81616	0.4860|0.4860	H|H	0.99415|0.99415	4.555|4.555	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.89471|0.89471	0.3743|0.3743	6|10	0.31617|0.87932	T|D	0.26|0	-27.2593|-27.2593	14.0469|14.0469	0.64710|0.64710	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|481	.|Q9NZN4	.|EHD2_HUMAN	V|F	150|481;471;345;164	.|ENSP00000263277:L481F;ENSP00000439036:L345F	ENSP00000391634:A150V|ENSP00000263277:L481F	A|L	+|+	2|1	0|0	EHD2|EHD2	52936310|52936310	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.707000|0.707000	0.40811|0.40811	5.919000|5.919000	0.70005|0.70005	1.966000|1.966000	0.57179|0.57179	0.561000|0.561000	0.74099|0.74099	GCT|CTC	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465851.1		+	ENST00000263277.3	Missense_Mutation	SNP	19 : 48244498 - 48244498 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	334	17
GCNT2	2651	broad.mit.edu	37	6	10556976	10556976	+	Missense_Mutation	SNP	C	C	T	rs56142502		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10556976C>T	ENST00000316170.3	+	1	737	c.320C>T	c.(319-321)aCc>aTc	p.T107I	GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000410107.1_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	109						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CACTTTGACACCTTTGCAAGG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	90	92			NA	NA	6		NA											NA				10556976		2203	4300	6503	SO:0001583	missense			L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2651	2651	2.4.1.150	Blood group antigens, Glucosaminyl (N-acetyl) transferase and xylosyltransferase family	4204	protein-coding gene	gene with protein product	Ii blood group, unassigned linkage group 3	600429	glucosaminyl (N-acetyl) transferase 5, glucosaminyl (N-acetyl) transferase 2, I-branching enzyme, glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group), cataract, congenital	NACGT1, II, GCNT5, CCAT	NA	8449405, 9915862	Standard	NM_145649	NM_145649	NA	Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000316170.3:c.320C>T	6.37:g.10556976C>T	ENSP00000314844:p.Thr107Ile	NA		37	CCDS4512.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.851425	0.71719	.	.	ENSG00000111846	ENST00000316170	T	0.11277	2.79	4.89	4.89	0.63831	.	.	.	.	.	T	0.23133	0.0559	M	0.87900	2.915	0.80722	D	1	P	0.48407	0.91	P	0.54431	0.752	T	0.02917	-1.1094	9	0.35671	T	0.21	.	18.0081	0.89215	0.0:1.0:0.0:0.0	.	107	Q06430	GNT2B_HUMAN	I	107	ENSP00000314844:T107I	ENSP00000314844:T107I	T	+	2	0	GCNT2	10664962	0.998000	0.40836	0.983000	0.44433	0.971000	0.66376	3.578000	0.53892	2.408000	0.81797	0.655000	0.94253	ACC	GCNT2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039834.2		+	ENST00000316170.3	Missense_Mutation	SNP	6 : 10556976 - 10556976 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	462	91
POPDC2	64091	broad.mit.edu	37	3	119379151	119379151	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119379151G>T	ENST00000493094.1	-	1	579	c.120C>A	c.(118-120)ggC>ggA	p.G40G	POPDC2_ENST00000538678.1_Silent_p.G40G|POPDC2_ENST00000468801.1_Silent_p.G40G|POPDC2_ENST00000264231.3_Silent_p.G40G|POPDC2_ENST00000474523.1_Intron			Q9HBU9	POPD2_HUMAN	popeye domain containing 2	40						integral to membrane				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		CCCCCATGAAGCCCAGGAGTA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	86	89			NA	NA	3		NA											NA				119379151		2203	4300	6503	SO:0001819	synonymous_variant			AF204173	CCDS2992.1	3q13.33	2004-01-15			ENSG00000121577	ENSG00000121577	64091	64091			17648	protein-coding gene	gene with protein product		605823			NA	10882522	Standard	NM_022135	NM_022135	NA	Approved	POP2	uc031sbc.1	Q9HBU9	OTTHUMG00000159438	ENST00000493094.1:c.120C>A	3.37:g.119379151G>T		NA	Q86UE7	37																																																																																				POPDC2-010	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000355726.1		-	ENST00000493094.1	Silent	SNP	3 : 119379151 - 119379151 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	283	48
UGT1A1	54658	broad.mit.edu	37	2	234526586	234526586	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234526586C>T	ENST00000373450.4	+	1	296	c.233C>T	c.(232-234)tCa>tTa	p.S78L		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	NA					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.S78*(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	AAGACTTACTCAACCTCATAC	0.463		NA											C	0	0	NA	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0	0	EXOME	NA	NA	4e-04	SNP								NA				1	Substitution - Nonsense(1)	ovary(1)											133	124	127			NA	NA	2		NA											NA				234526586		2203	4300	6503	SO:0001583	missense			M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	54658	54658	2.4.1.17	UDP glucuronosyltransferases	12530	other	complex locus constituent		191740	UDP glycosyltransferase 1 family, polypeptide A1	UGT1, GNT1	NA	9295054, 9535849	Standard		NM_000463	NA	Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.233C>T	2.37:g.234526586C>T	ENSP00000362549:p.Ser78Leu	NA		37	CCDS33402.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	11.12	1.544877	0.27652	.	.	ENSG00000242366	ENST00000373450	T	0.60797	0.16	3.96	-2.22	0.06952	.	.	.	.	.	T	0.52677	0.1749	M	0.71581	2.175	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.15484	0.013;0.013	T	0.54337	-0.8309	9	0.72032	D	0.01	.	8.6158	0.33831	0.5213:0.4042:0.0:0.0746	.	78;78	Q5DSZ6;Q9HAW9	.;UD18_HUMAN	L	78	ENSP00000362549:S78L	ENSP00000362549:S78L	S	+	2	0	UGT1A8	234191325	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.735000	0.26115	-0.191000	0.10448	-0.558000	0.04189	TCA	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130994.1		+	ENST00000373450.4	Missense_Mutation	SNP	2 : 234526586 - 234526586 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	883	156
CCNB1IP1	57820	broad.mit.edu	37	14	20784609	20784609	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20784609A>G	ENST00000398169.3	-	5	690	c.74T>C	c.(73-75)gTc>gCc	p.V25A	CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.V25A|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.V25A|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.V25A|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.V25A|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.V25A			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	25						chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		GCAGGCAGTGACCCATGCATA	0.473		NA	T	HMGA2	leiomyoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		14	14q11.2	57820	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase		M	0													114	102	106			NA	NA	14		NA											NA				20784609		2203	4300	6503	SO:0001583	missense			AF216381	CCDS9547.1	14q11.2	2014-02-04	2011-01-31	2004-01-14	ENSG00000100814	ENSG00000100814	57820	57820			19437	protein-coding gene	gene with protein product	human enhancer of invasion 10	608249	chromosome 14 open reading frame 18, cyclin B1 interacting protein 1	C14orf18	NA	12612082, 21779533	Standard	NM_021178, NM_182849, NM_182851, NM_182852	NM_021178	NA	Approved	HEI10	uc001vwy.4	Q9NPC3	OTTHUMG00000029509	ENST00000398169.3:c.74T>C	14.37:g.20784609A>G	ENSP00000381235:p.Val25Ala	NA		37	CCDS9547.1	.	.	.	.	.	.	.	.	.	.	A	35	5.475759	0.96291	.	.	ENSG00000100814	ENST00000398160;ENST00000398169;ENST00000358932;ENST00000353689;ENST00000437553;ENST00000398163;ENST00000557665;ENST00000556563	D;D;D;D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.93782	0.8012	L	0.48642	1.525	0.53005	D	0.999965	D	0.64830	0.994	P	0.60541	0.876	D	0.94325	0.7557	10	0.87932	D	0	-18.525	15.6114	0.76721	1.0:0.0:0.0:0.0	.	25	Q9NPC3	CIP1_HUMAN	A	25;25;25;25;25;25;25;56	ENSP00000381226:V25A;ENSP00000381235:V25A;ENSP00000351810:V25A;ENSP00000337396:V25A;ENSP00000409896:V25A;ENSP00000381229:V25A;ENSP00000452486:V25A	ENSP00000337396:V25A	V	-	2	0	CCNB1IP1	19854449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.302000	0.89953	2.326000	0.78906	0.533000	0.62120	GTC	CCNB1IP1-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000073538.3		-	ENST00000398169.3	Missense_Mutation	SNP	14 : 20784609 - 20784609 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	47
LRRC16A	55604	broad.mit.edu	37	6	25466164	25466164	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25466164G>T	ENST00000329474.6	+	9	1046	c.678G>T	c.(676-678)aaG>aaT	p.K226N	LRRC16A_ENST00000377969.3_Missense_Mutation_p.K65N	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	226					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TGTCCTCTAAGGATCTAAAAC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	150	152			NA	NA	6		NA											NA				25466164		1853	4091	5944	SO:0001583	missense			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691	55604	55604			21581	protein-coding gene	gene with protein product	capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)	609593	leucine rich repeat containing 16	LRRC16	NA	19846667	Standard	NM_017640	NM_017640	NA	Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.678G>T	6.37:g.25466164G>T	ENSP00000331983:p.Lys226Asn	NA	Q6ZUH5|Q6ZW07|Q9NXU7	37	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232859	0.39498	.	.	ENSG00000079691	ENST00000329474;ENST00000399313;ENST00000377969	T;T	0.52983	0.64;0.64	5.89	5.02	0.67125	.	0.048959	0.85682	D	0.000000	T	0.34483	0.0899	L	0.50333	1.59	0.48087	D	0.999589	P;P;P;P	0.46987	0.868;0.469;0.888;0.589	B;B;P;B	0.47915	0.358;0.253;0.561;0.288	T	0.10894	-1.0610	10	0.22706	T	0.39	.	13.3814	0.60768	0.0724:0.0:0.9276:0.0	.	226;226;226;65	Q5VZK9;B2RTQ5;Q5VZK9-2;Q5VZK9-4	LR16A_HUMAN;.;.;.	N	226;226;65	ENSP00000331983:K226N;ENSP00000367206:K65N	ENSP00000331983:K226N	K	+	3	2	LRRC16A	25574143	1.000000	0.71417	0.997000	0.53966	0.917000	0.54804	5.750000	0.68712	1.508000	0.48769	-0.141000	0.14075	AAG	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040045.2		+	ENST00000329474.6	Missense_Mutation	SNP	6 : 25466164 - 25466164 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	568	101
KALRN	8997	broad.mit.edu	37	3	124149506	124149506	+	Silent	SNP	C	C	T	rs138919966	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124149506C>T	ENST00000240874.3	+	16	2864	c.2707C>T	c.(2707-2709)Ctg>Ttg	p.L903L	KALRN_ENST00000360013.3_Silent_p.L903L|KALRN_ENST00000460856.1_Silent_p.L903L	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	903					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCCCTAGGTTCTGGGATGGAT	0.567		NA											C	4	0.0018	NA	NA	2184	0.01	1	,	,	NA	2e-04	NA	NA	NA	0.0018	1	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0													97	80	86			NA	NA	3		NA											NA				124149506		2203	4300	6503	SO:0001819	synonymous_variant			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145	8997	8997		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	4814	protein-coding gene	gene with protein product	serine/threonine kinase with Dbl and pleckstrin homology domains	604605	huntingtin-associated protein interacting protein (duo)	HAPIP	NA	9285789, 10023074	Standard	NM_003947	NM_001024660	NA	Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.2707C>T	3.37:g.124149506C>T		NA	A8MSI4|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	37	CCDS3027.1																																																																																			KALRN-005	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258843.4		+	ENST00000240874.3	Silent	SNP	3 : 124149506 - 124149506 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	279	28
PHF7	51533	broad.mit.edu	37	3	52448595	52448595	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52448595T>G	ENST00000327906.3	+	4	838	c.178T>G	c.(178-180)Ttc>Gtc	p.F60V	PHF7_ENST00000482327.1_3'UTR|PHF7_ENST00000347025.2_Missense_Mutation_p.F60V	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	60						nucleus	zinc ion binding			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		CGTGCATTATTTCTGTCTTGT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	109	109			NA	NA	3		NA											NA				52448595		2203	4300	6503	SO:0001583	missense			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318	51533	51533		Zinc fingers, PHD-type	18458	protein-coding gene	gene with protein product					NA	11042152, 11829468	Standard	NM_016483	NM_016483	NA	Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495	ENST00000327906.3:c.178T>G	3.37:g.52448595T>G	ENSP00000333024:p.Phe60Val	NA		37	CCDS2854.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.3|21.3	4.134929|4.134929	0.77662|0.77662	.|.	.|.	ENSG00000010318|ENSG00000010318	ENST00000478707;ENST00000327906;ENST00000347025;ENST00000454052|ENST00000461861	T;T;T|.	0.69040|.	-0.37;-0.37;-0.37|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.157115|.	0.56097|.	D|.	0.000022|.	T|T	0.74794|0.74794	0.3763|0.3763	M|M	0.81341|0.81341	2.54|2.54	0.46458|0.46458	D|D	0.999055|0.999055	D;D|.	0.69078|.	0.997;0.997|.	D;D|.	0.79108|.	0.992;0.992|.	T|T	0.76721|0.76721	-0.2855|-0.2855	10|5	0.31617|.	T|.	0.26|.	-19.9395|-19.9395	11.9004|11.9004	0.52680|0.52680	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	60;60|.	A8K856;Q9BWX1|.	.;PHF7_HUMAN|.	V|M	60;60;60;25|19	ENSP00000419316:F60V;ENSP00000333024:F60V;ENSP00000246282:F60V|.	ENSP00000333024:F60V|.	F|I	+|+	1|3	0|3	PHF7|PHF7	52423635|52423635	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.900000|0.900000	0.52787|0.52787	3.582000|3.582000	0.53921|0.53921	2.071000|2.071000	0.62044|0.62044	0.460000|0.460000	0.39030|0.39030	TTC|ATT	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351155.1		+	ENST00000327906.3	Missense_Mutation	SNP	3 : 52448595 - 52448595 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	11
ZNF106	64397	broad.mit.edu	37	15	42714807	42714807	+	Silent	SNP	G	G	A	rs138934970		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42714807G>A	ENST00000565611.1	-	14	3060	c.2751C>T	c.(2749-2751)ctC>ctT	p.L917L	ZNF106_ENST00000263805.4_Silent_p.L1732L|ZNF106_ENST00000565660.1_5'UTR|ZNF106_ENST00000565380.1_Silent_p.L960L					zinc finger protein 106	NA											NA						AGATCCGCACGAGCTCACCAG	0.418		NA											G	1	5e-04	NA	NA	2184	NA	1	,	,	NA	2e-04	0.0013	NA	NA	5e-04	1	EXOME	NA	NA	4e-04	SNP								NA				0								G		3,4403	6.2+/-15.9	0,3,2200	89	81	83		5196	-10.8	0.3	15	dbSNP_134	83	0,8598		0,0,4299	no	coding-synonymous	ZFP106	NM_022473.1		0,3,6499	AA,AG,GG	NA	0.0,0.0681,0.0231		1732/1884	42714807	3,13001	2203	4299	6502	SO:0001819	synonymous_variant			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994	64397	64397		Zinc fingers, C2H2-type	12886	protein-coding gene	gene with protein product	SH3-domain binding protein 3		zinc finger protein 106 homolog (mouse)	ZFP106	NA		Standard	NM_022473	XM_005254591	NA	Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000565611.1:c.2751C>T	15.37:g.42714807G>A		NA		37																																																																																				ZNF106-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000422589.2		-	ENST00000565611.1	Silent	SNP	15 : 42714807 - 42714807 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	273	52
SLC1A1	6505	broad.mit.edu	37	9	4576732	4576732	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4576732G>T	ENST00000262352.3	+	10	1398	c.1162G>T	c.(1162-1164)Gac>Tac	p.D388Y		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	388					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	GAATGACCTGGACTTGGGCAT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													203	180	188			NA	NA	9		NA											NA				4576732		2203	4300	6503	SO:0001583	missense				CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688	6505	6505		Solute carriers	10939	protein-coding gene	gene with protein product		133550			NA	8020993	Standard		NM_004170	NA	Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.1162G>T	9.37:g.4576732G>T	ENSP00000262352:p.Asp388Tyr	NA	O75587|Q5VZ24|Q8N199|Q9UEW2	37	CCDS6452.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.36|11.36	1.614725|1.614725	0.28712|0.28712	.|.	.|.	ENSG00000106688|ENSG00000106688	ENST00000262352|ENST00000422398	T|.	0.60920|.	0.15|.	5.54|5.54	4.64|4.64	0.57946|0.57946	.|.	0.495607|.	0.23930|.	N|.	0.043142|.	T|T	0.72003|0.72003	0.3407|0.3407	M|M	0.78285|0.78285	2.405|2.405	0.80722|0.80722	D|D	1|1	B|.	0.26195|.	0.144|.	B|.	0.30646|.	0.118|.	T|T	0.72561|0.72561	-0.4256|-0.4256	10|5	0.56958|.	D|.	0.05|.	.|.	10.1483|10.1483	0.42778|0.42778	0.1511:0.0:0.8489:0.0|0.1511:0.0:0.8489:0.0	.|.	388|.	P43005|.	EAA3_HUMAN|.	Y|V	388|150	ENSP00000262352:D388Y|.	ENSP00000262352:D388Y|.	D|G	+|+	1|2	0|0	SLC1A1|SLC1A1	4566732|4566732	0.000000|0.000000	0.05858|0.05858	0.403000|0.403000	0.26384|0.26384	0.462000|0.462000	0.32619|0.32619	0.682000|0.682000	0.25335|0.25335	1.330000|1.330000	0.45394|0.45394	0.655000|0.655000	0.94253|0.94253	GAC|GGA	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051571.1		+	ENST00000262352.3	Missense_Mutation	SNP	9 : 4576732 - 4576732 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	697	123
CD4	920	broad.mit.edu	37	12	6925373	6925373	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6925373C>A	ENST00000541982.1	+	0	1113				CD4_ENST00000011653.4_Silent_p.T253T|CD4_ENST00000538827.1_3'UTR			P01730	CD4_HUMAN	CD4 molecule	NA					cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				CTTGGATCACCTTTGACCTGA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	124	130			NA	NA	12		NA											NA				6925373		2203	4300	6503	SO:0001624	3_prime_UTR_variant			M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610	920	920		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing	1678	protein-coding gene	gene with protein product		186940	CD4 antigen (p55), T-cell surface glycoprotein CD4		NA		Standard	NM_000616	NM_000616	NA	Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000541982.1:c.*472C>A	12.37:g.6925373C>A		NA	B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	37																																																																																				CD4-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000399982.1		+	ENST00000541982.1	3'UTR	SNP	12 : 6925373 - 6925373 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	782	153
ZNF280D	54816	broad.mit.edu	37	15	56923986	56923986	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56923986A>G	ENST00000559237.1	-	21	3294	c.2611T>C	c.(2611-2613)Ttg>Ctg	p.L871L	ZNF280D_ENST00000267807.7_Silent_p.L884L	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	884					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		GCTAATCGCAAATCCTTAATA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	118	119			NA	NA	15		NA											NA				56923986		2192	4292	6484	SO:0001819	synonymous_variant			AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20			54816	54816			25953	protein-coding gene	gene with protein product			suppressor of hairy wing homolog 4 (Drosophila)	SUHW4	NA	10997877	Standard	XM_370867	XM_005254481	NA	Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000559237.1:c.2611T>C	15.37:g.56923986A>G		NA	A1L495|B2RMT6|Q6MZM6|Q6N085|Q9H0U5|Q9HCI8|Q9NXS0	37	CCDS42041.1																																																																																			ZNF280D-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418852.3		-	ENST00000559237.1	Silent	SNP	15 : 56923986 - 56923986 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	411	68
ASB2	51676	broad.mit.edu	37	14	94419708	94419708	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94419708C>T	ENST00000555019.1	-	5	1054	c.624G>A	c.(622-624)ccG>ccA	p.P208P	ASB2_ENST00000556337.1_Intron|ASB2_ENST00000315988.4_Silent_p.P160P	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	160					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CTTTGTAGAGCGGTGTCTCTC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	113	109			NA	NA	14		NA											NA				94419708		2203	4300	6503	SO:0001819	synonymous_variant			AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25				51676	51676		Ankyrin repeat domain containing	16012	protein-coding gene	gene with protein product		605759	ankyrin repeat and SOCS box-containing 2		NA		Standard		NM_016150	NA	Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000555019.1:c.624G>A	14.37:g.94419708C>T		NA	B2RDP9|Q9NSU5|Q9Y567	37	CCDS55940.1																																																																																			ASB2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412844.1		-	ENST00000555019.1	Silent	SNP	14 : 94419708 - 94419708 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	882	142
UPP2	151531	broad.mit.edu	37	2	158958634	158958634	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:158958634T>C	ENST00000605860.1	+	4	276	c.230T>C	c.(229-231)gTt>gCt	p.V77A	UPP2_ENST00000005756.4_Missense_Mutation_p.V20A|UPP2_ENST00000460456.1_3'UTR|UPP2_ENST00000409859.4_Missense_Mutation_p.V77A			O95045	UPP2_HUMAN	uridine phosphorylase 2	20					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						AATACATATGTTGGGTGAGTA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	145	142			NA	NA	2		NA											NA				158958634		2203	4300	6503	SO:0001583	missense			AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001	151531	151531			23061	protein-coding gene	gene with protein product					NA	12849978	Standard	NM_173355	NM_173355	NA	Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000605860.1:c.230T>C	2.37:g.158958634T>C	ENSP00000474090:p.Val77Ala	NA	B3KV87	37	CCDS46435.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.917797	0.00503	.	.	ENSG00000007001	ENST00000409859;ENST00000005756	T;T	0.30714	1.52;1.6	5.67	1.66	0.24008	.	0.799265	0.11506	N	0.557199	T	0.16557	0.0398	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36504	-0.9745	10	0.08179	T	0.78	.	5.5721	0.17202	0.1839:0.0:0.2736:0.5425	.	20	O95045	UPP2_HUMAN	A	77;20	ENSP00000387230:V77A;ENSP00000005756:V20A	ENSP00000005756:V20A	V	+	2	0	UPP2	158666880	0.344000	0.24827	0.004000	0.12327	0.089000	0.18198	0.340000	0.19892	0.036000	0.15547	0.533000	0.62120	GTT	UPP2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000332999.2		+	ENST00000605860.1	Missense_Mutation	SNP	2 : 158958634 - 158958634 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	736	127
DHDDS	79947	broad.mit.edu	37	1	26769270	26769270	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26769270G>A	ENST00000360009.2	+	4	306	c.229G>A	c.(229-231)Gca>Aca	p.A77T	DHDDS_ENST00000374185.3_Missense_Mutation_p.A77T|DHDDS_ENST00000525682.2_Missense_Mutation_p.A77T|DHDDS_ENST00000427245.2_Missense_Mutation_p.A77T|DHDDS_ENST00000236342.7_Missense_Mutation_p.A77T|DHDDS_ENST00000531955.1_3'UTR|DHDDS_ENST00000526219.1_Missense_Mutation_p.A77T	NM_024887.3|NM_205861.2	NP_079163.2|NP_995583.1	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	77							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		GACAGTCTACGCATTCAGCAT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	162	164			NA	NA	1		NA											NA				26769270		2203	4300	6503	SO:0001583	missense			AK023164	CCDS281.1, CCDS282.1, CCDS57984.1, CCDS57983.1	1p35.3	2014-01-28			ENSG00000117682	ENSG00000117682	79947	79947			20603	protein-coding gene	gene with protein product		608172			NA	12591616	Standard	NM_024887	NM_024887	NA	Approved	HDS, FLJ13102, DS, RP59	uc001bmk.3	Q86SQ9	OTTHUMG00000003554	ENST00000360009.2:c.229G>A	1.37:g.26769270G>A	ENSP00000353104:p.Ala77Thr	NA	D3DPK7|D3DPK8|D3DPK9|Q5T0A4|Q8NE90|Q9BTG5|Q9BTK3|Q9H905	37	CCDS281.1	.	.	.	.	.	.	.	.	.	.	G	35	5.511033	0.96386	.	.	ENSG00000117682	ENST00000374190;ENST00000427245;ENST00000525682;ENST00000236342;ENST00000526219;ENST00000374185;ENST00000360009;ENST00000533087;ENST00000531312;ENST00000525165;ENST00000525546;ENST00000436153;ENST00000430232	T;T;T;T;T;T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;0.26;-1.39	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.91012	0.7173	M	0.85299	2.745	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.954;0.999;0.987;0.967	D	0.90213	0.4266	10	0.45353	T	0.12	-26.5302	19.3088	0.94175	0.0:0.0:1.0:0.0	.	77;77;77;77	B7Z4B9;Q86SQ9-3;Q86SQ9;Q86SQ9-2	.;.;DHDDS_HUMAN;.	T	45;77;77;77;77;77;77;77;77;77;77;77;77	ENSP00000399177:A77T;ENSP00000434984:A77T;ENSP00000236342:A77T;ENSP00000434219:A77T;ENSP00000363300:A77T;ENSP00000353104:A77T;ENSP00000436119:A77T;ENSP00000436764:A77T;ENSP00000434185:A77T;ENSP00000433976:A77T;ENSP00000397584:A77T	ENSP00000236342:A77T	A	+	1	0	DHDDS	26641857	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	9.762000	0.98944	2.809000	0.96659	0.655000	0.94253	GCA	DHDDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000009895.3		+	ENST00000360009.2	Missense_Mutation	SNP	1 : 26769270 - 26769270 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	675	147
LONP1	9361	broad.mit.edu	37	19	5693652	5693652	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5693652C>A	ENST00000360614.3	-	16	2606	c.2449G>T	c.(2449-2451)Gcc>Tcc	p.A817S	LONP1_ENST00000590729.1_Missense_Mutation_p.A687S|LONP1_ENST00000585374.1_Missense_Mutation_p.A703S|LONP1_ENST00000540670.2_Missense_Mutation_p.A621S|LONP1_ENST00000593119.1_Missense_Mutation_p.A753S	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	817					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAGGTGTAGGCTATGCGGGCG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	122	139			NA	NA	19		NA											NA				5693652		2203	4300	6503	SO:0001583	missense			U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365	9361	9361		ATPases / AAA-type, Serine peptidases / Serine peptidases	9479	protein-coding gene	gene with protein product		605490	protease, serine, 15	PRSS15	NA	8248235, 8119403	Standard	NM_004793	NM_004793	NA	Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.2449G>T	19.37:g.5693652C>A	ENSP00000353826:p.Ala817Ser	NA	D6W635|P36777|Q9UQ95	37	CCDS12148.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.936412	0.92458	.	.	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	T;T	0.39787	1.06;1.06	4.33	4.33	0.51752	Ribosomal protein S5 domain 2-type fold (1);Peptidase S16, Lon C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.68531	0.3011	M	0.88377	2.95	0.80722	D	1	D;D;D	0.60575	0.988;0.965;0.988	D;D;D	0.73708	0.955;0.981;0.955	T	0.76011	-0.3115	10	0.66056	D	0.02	-30.7488	14.3306	0.66553	0.0:1.0:0.0:0.0	.	817;753;817	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	S	817;781;621	ENSP00000353826:A817S;ENSP00000441523:A621S	ENSP00000351177:A781S	A	-	1	0	LONP1	5644652	1.000000	0.71417	0.996000	0.52242	0.936000	0.57629	7.481000	0.81124	1.922000	0.55676	0.549000	0.68633	GCC	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451662.1		-	ENST00000360614.3	Missense_Mutation	SNP	19 : 5693652 - 5693652 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	443	98
SHC2	25759	broad.mit.edu	37	19	436418	436418	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:436418T>C	ENST00000264554.6	-	6	787	c.788A>G	c.(787-789)tAc>tGc	p.Y263C		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	263	PID.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTAGGCCACGTAATCCGTCAT	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	29	27			NA	NA	19		NA											NA				436418		1904	4098	6002	SO:0001583	missense			AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946	25759	25759		SH2 domain containing	29869	protein-coding gene	gene with protein product	neuronal Shc adaptor homolog	605217			NA	7527937, 9507002	Standard		NM_012435	NA	Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.788A>G	19.37:g.436418T>C	ENSP00000264554:p.Tyr263Cys	NA	O60230|Q9NPL5|Q9UCX4	37	CCDS45891.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.952042	0.73787	.	.	ENSG00000129946	ENST00000264554	T	0.15372	2.43	4.67	4.67	0.58626	Phosphotyrosine interaction (PID/PI) (1);Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.46776	0.1410	M	0.87038	2.855	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.55854	-0.8075	10	0.87932	D	0	-31.1631	13.588	0.61942	0.0:0.0:0.0:1.0	.	263	P98077	SHC2_HUMAN	C	263	ENSP00000264554:Y263C	ENSP00000264554:Y263C	Y	-	2	0	SHC2	387418	1.000000	0.71417	0.860000	0.33809	0.929000	0.56500	7.432000	0.80349	1.887000	0.54652	0.352000	0.21897	TAC	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451840.3		-	ENST00000264554.6	Missense_Mutation	SNP	19 : 436418 - 436418 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	383	85
LRP5	4041	broad.mit.edu	37	11	68191127	68191127	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68191127C>T	ENST00000294304.7	+	14	3304	c.3198C>T	c.(3196-3198)cgC>cgT	p.R1066R		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1066	Beta-propeller 4.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTGGGGACCGCGACAAGCCCA	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	70	72			NA	NA	11		NA											NA				68191127		2200	4294	6494	SO:0001819	synonymous_variant			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337	4041	4041		Low density lipoprotein receptors	6697	protein-coding gene	gene with protein product		603506	osteoporosis pseudoglioma syndrome, exudative vitreoretinopathy 1	LRP7, OPPG, EVR1	NA	9714764, 10049586	Standard	NM_002335	XM_005273994	NA	Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.3198C>T	11.37:g.68191127C>T		NA	Q96TD6|Q9UP66	37	CCDS8181.1																																																																																			LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395088.1		+	ENST00000294304.7	Silent	SNP	11 : 68191127 - 68191127 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	554	114
CDKL4	344387	broad.mit.edu	37	2	39440588	39440588	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39440588C>T	ENST00000378803.1	-	3	315	c.316G>A	c.(316-318)Gta>Ata	p.V106I	CDKL4_ENST00000395035.3_Missense_Mutation_p.V106I	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	106	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TGCCATAATACGCTTTTGATC	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	88	85			NA	NA	2		NA											NA				39440588		2203	4300	6503	SO:0001583	missense				CCDS33184.1	2p22.3	2011-11-04			ENSG00000205111	ENSG00000205111	344387	344387		Cyclin-dependent kinases	19287	protein-coding gene	gene with protein product					NA		Standard	XM_293029	NM_001009565	NA	Approved		uc002rrm.3	Q5MAI5	OTTHUMG00000133574	ENST00000378803.1:c.316G>A	2.37:g.39440588C>T	ENSP00000368080:p.Val106Ile	NA		37	CCDS33184.1	.	.	.	.	.	.	.	.	.	.	C	9.681	1.149388	0.21288	.	.	ENSG00000205111	ENST00000378803;ENST00000395035	T;T	0.62639	0.01;0.01	4.67	4.67	0.58626	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44902	D	0.000418	T	0.37293	0.0998	N	0.03084	-0.415	0.30363	N	0.783641	B;B	0.18610	0.029;0.0	B;B	0.19148	0.024;0.004	T	0.28427	-1.0044	10	0.21540	T	0.41	-6.6072	13.0982	0.59206	0.0:1.0:0.0:0.0	.	106;106	Q2NME9;Q5MAI5	.;CDKL4_HUMAN	I	106	ENSP00000368080:V106I;ENSP00000378476:V106I	ENSP00000368080:V106I	V	-	1	0	CDKL4	39294092	0.996000	0.38824	0.997000	0.53966	0.984000	0.73092	0.885000	0.28227	2.147000	0.66899	0.561000	0.74099	GTA	CDKL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257676.1		-	ENST00000378803.1	Missense_Mutation	SNP	2 : 39440588 - 39440588 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	523	36
SLC9A1	6548	broad.mit.edu	37	1	27429187	27429187	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27429187G>A	ENST00000263980.3	-	7	2198	c.1623C>T	c.(1621-1623)taC>taT	p.Y541Y	SLC9A1_ENST00000545949.1_Silent_p.Y202Y	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	541					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GGTGGTGACCGTAGTGGCCAC	0.647		NA									OREG0013277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	61	62			NA	NA	1		NA											NA				27429187		2202	4300	6502	SO:0001819	synonymous_variant			M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020	6548	6548		Solute carriers	11071	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 143	107310	solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive), solute carrier family 9 (sodium/hydrogen exchanger), member 1	APNH, NHE1	NA	8283968	Standard	NM_003047	NM_003047	NA	Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.1623C>T	1.37:g.27429187G>A		794	B1ALD6|D3DPL4|Q96EM2	37	CCDS295.1																																																																																			SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000012336.2		-	ENST00000263980.3	Silent	SNP	1 : 27429187 - 27429187 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	155	14
ZSWIM4	65249	broad.mit.edu	37	19	13936465	13936465	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13936465A>G	ENST00000254323.2	+	11	2155	c.1966A>G	c.(1966-1968)Acc>Gcc	p.T656A	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.T490A	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	656							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CAAGACAGCCACCCCGGTCAG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	50	49			NA	NA	19		NA											NA				13936465		2203	4300	6503	SO:0001583	missense			AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003	65249	65249		Zinc fingers, SWIM-type	25704	protein-coding gene	gene with protein product					NA		Standard	XM_031342	NM_023072	NA	Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.1966A>G	19.37:g.13936465A>G	ENSP00000254323:p.Thr656Ala	NA		37	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.670200	0.47677	.	.	ENSG00000132003	ENST00000254323;ENST00000440752	T;T	0.48522	0.81;0.81	4.23	3.05	0.35203	.	0.000000	0.52532	D	0.000074	T	0.47469	0.1447	M	0.71206	2.165	0.39259	D	0.964173	B;B	0.30563	0.015;0.285	B;B	0.36186	0.016;0.219	T	0.48151	-0.9060	10	0.56958	D	0.05	-21.304	7.6829	0.28524	0.8831:0.0:0.1169:0.0	.	490;656	E7ERX2;Q9H7M6	.;ZSWM4_HUMAN	A	656;490	ENSP00000254323:T656A;ENSP00000405278:T490A	ENSP00000254323:T656A	T	+	1	0	ZSWIM4	13797465	1.000000	0.71417	0.997000	0.53966	0.888000	0.51559	5.719000	0.68462	0.520000	0.28426	0.482000	0.46254	ACC	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457457.1		+	ENST00000254323.2	Missense_Mutation	SNP	19 : 13936465 - 13936465 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	490	101
MPDZ	8777	broad.mit.edu	37	9	13125244	13125244	+	Translation_Start_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:13125244G>T	ENST00000319217.7	-	35	5025	c.4778C>A	c.(4777-4779)tCt>tAt	p.S1593Y	MPDZ_ENST00000541718.1_Missense_Mutation_p.S1593Y|MPDZ_ENST00000536827.1_Missense_Mutation_p.S1560Y|MPDZ_ENST00000541093.1_De_novo_Start_OutOfFrame|MPDZ_ENST00000546205.1_Missense_Mutation_p.S1607Y|MPDZ_ENST00000538841.1_Missense_Mutation_p.S452Y|MPDZ_ENST00000381015.4_Missense_Mutation_p.S1593Y|MPDZ_ENST00000447879.1_Missense_Mutation_p.S1560Y|MPDZ_ENST00000381022.2_Missense_Mutation_p.S1593Y	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1593					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TGGGGAGCCAGACTGTGGGAC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	113	114			NA	NA	9		NA											NA				13125244		1902	4118	6020	SO:0001583	missense			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186	8777	8777			7208	protein-coding gene	gene with protein product		603785			NA		Standard	NM_003829	NM_003829	NA	Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.4778C>A	9.37:g.13125244G>T	ENSP00000320006:p.Ser1593Tyr	NA	A6NLC2|B2RTS3|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	37		.	.	.	.	.	.	.	.	.	.	G	16.97	3.268140	0.59540	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000438511;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T;T;T	0.17213	2.7;2.67;2.67;2.29;2.6;2.63;2.68;2.72;2.7;2.71	4.93	4.93	0.64822	.	0.369947	0.19770	N	0.106464	T	0.28300	0.0699	L	0.38175	1.15	0.80722	D	1	P;B;B;P;D;P;B	0.61697	0.828;0.008;0.356;0.892;0.99;0.892;0.228	P;B;B;P;P;P;B	0.56700	0.521;0.023;0.187;0.714;0.804;0.714;0.181	T	0.00964	-1.1498	10	0.42905	T	0.14	.	18.3346	0.90283	0.0:0.0:1.0:0.0	.	1560;452;298;1560;1473;1593;1593	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2;O75970	.;.;.;.;.;.;MPDZ_HUMAN	Y	1593;1593;1593;162;529;452;1560;1560;1593;1473;1607	ENSP00000320006:S1593Y;ENSP00000439807:S1593Y;ENSP00000370410:S1593Y;ENSP00000415964:S162Y;ENSP00000444230:S529Y;ENSP00000444717:S452Y;ENSP00000444151:S1560Y;ENSP00000415208:S1560Y;ENSP00000370403:S1593Y;ENSP00000446358:S1607Y	ENSP00000320006:S1593Y	S	-	2	0	MPDZ	13115244	0.391000	0.25221	0.007000	0.13788	0.398000	0.30690	4.342000	0.59341	2.564000	0.86499	0.650000	0.86243	TCT	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000055485.2		-	ENST00000319217.7	Missense_Mutation	SNP	9 : 13125244 - 13125244 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	534	93
NPAT	4863	broad.mit.edu	37	11	108042973	108042973	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108042973T>C	ENST00000278612.8	-	13	2843	c.2738A>G	c.(2737-2739)aAc>aGc	p.N913S	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	913					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		AAATACACTGTTTGACCTTGG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													236	219	224			NA	NA	11		NA											NA				108042973		1965	4148	6113	SO:0001583	missense			X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308	4863	4863			7896	protein-coding gene	gene with protein product		601448			NA	9205109	Standard	NM_002519	NM_002519	NA	Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.2738A>G	11.37:g.108042973T>C	ENSP00000278612:p.Asn913Ser	NA	A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	37	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	T	8.406	0.843028	0.16963	.	.	ENSG00000149308	ENST00000278612	T	0.04015	3.73	5.83	0.92	0.19397	.	0.310876	0.32952	N	0.005447	T	0.04452	0.0122	L	0.50919	1.6	0.24433	N	0.994562	B;B	0.20052	0.018;0.041	B;B	0.16722	0.016;0.011	T	0.39057	-0.9632	10	0.26408	T	0.33	-6.4258	5.5292	0.16974	0.1229:0.2474:0.0:0.6297	.	913;913	B9EG70;Q14207	.;NPAT_HUMAN	S	913	ENSP00000278612:N913S	ENSP00000278612:N913S	N	-	2	0	NPAT	107548183	1.000000	0.71417	0.988000	0.46212	0.967000	0.64934	0.607000	0.24209	0.113000	0.18004	0.533000	0.62120	AAC	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389506.2		-	ENST00000278612.8	Missense_Mutation	SNP	11 : 108042973 - 108042973 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1038	171
LILRA6	79168	broad.mit.edu	37	19	54742952	54742952	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54742952C>A	ENST00000396365.2	-	8	1362	c.1323G>T	c.(1321-1323)aaG>aaT	p.K441N	LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.K424N|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000391735.3_Intron	NM_024318.2	NP_077294			leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	NA										central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGTGTAATCCTTGGCGTGTG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	102	105			NA	NA	19		NA											NA				54742952		2180	4298	6478	SO:0001583	missense			AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482	79168	79168		Leukocyte immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	15495	protein-coding gene	gene with protein product			leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6	LILRB6	NA	10941842	Standard	NM_024318	NM_024318	NA	Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.1323G>T	19.37:g.54742952C>A	ENSP00000379651:p.Lys441Asn	NA		37	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	C	9.016	0.983783	0.18889	.	.	ENSG00000244482	ENST00000396365;ENST00000245621	T;T	0.00523	6.85;6.83	2.69	1.44	0.22558	.	.	.	.	.	T	0.00384	0.0012	L	0.34521	1.04	0.36748	D	0.882587	B	0.12630	0.006	B	0.04013	0.001	T	0.58526	-0.7621	9	0.66056	D	0.02	.	4.9023	0.13781	0.0:0.7616:0.0:0.2384	.	441	Q6PI73	LIRA6_HUMAN	N	441;424	ENSP00000379651:K441N;ENSP00000245621:K424N	ENSP00000245621:K424N	K	-	3	2	LILRA6	59434764	0.014000	0.17966	0.096000	0.21009	0.039000	0.13416	-0.216000	0.09266	0.255000	0.21593	0.174000	0.16983	AAG	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313725.1		-	ENST00000396365.2	Missense_Mutation	SNP	19 : 54742952 - 54742952 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	545	46
RASAL1	8437	broad.mit.edu	37	12	113556937	113556937	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113556937C>T	ENST00000546530.1	-	8	923	c.638G>A	c.(637-639)gGc>gAc	p.G213D	RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.G213D|RASAL1_ENST00000446861.3_Missense_Mutation_p.G213D|RASAL1_ENST00000261729.5_Missense_Mutation_p.G213D	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	213	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GCTCACCATGCCCAAGAAGTC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	129	135			NA	NA	12		NA											NA				113556937		2203	4300	6503	SO:0001583	missense			AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344	8437	8437		Pleckstrin homology (PH) domain containing	9873	protein-coding gene	gene with protein product		604118			NA	9751798	Standard	NM_004658	NM_001193520	NA	Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000546530.1:c.638G>A	12.37:g.113556937C>T	ENSP00000450244:p.Gly213Asp	NA	C9JFK5|Q52M03|Q96CC7	37	CCDS55889.1	.	.	.	.	.	.	.	.	.	.	C	31	5.069803	0.93950	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	D;D;D;D	0.96041	-3.89;-3.89;-3.89;-3.89	5.49	5.49	0.81192	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.057398	0.64402	D	0.000001	D	0.98795	0.9594	H	0.98446	4.235	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.99581	1.0973	10	0.87932	D	0	.	18.1326	0.89606	0.0:1.0:0.0:0.0	.	213;213;213;225;213;213;213	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	D	213	ENSP00000450244:G213D;ENSP00000261729:G213D;ENSP00000395920:G213D;ENSP00000448510:G213D	ENSP00000261729:G213D	G	-	2	0	RASAL1	112041320	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.389000	0.79806	2.592000	0.87571	0.511000	0.50034	GGC	RASAL1-008	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405528.1		-	ENST00000546530.1	Missense_Mutation	SNP	12 : 113556937 - 113556937 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	978	20
CSGALNACT1	55790	broad.mit.edu	37	8	19315993	19315993	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19315993A>G	ENST00000454498.2	-	5	1808	c.795T>C	c.(793-795)gtT>gtC	p.V265V	CSGALNACT1_ENST00000522854.1_Silent_p.V265V|CSGALNACT1_ENST00000544602.1_Silent_p.V265V|CSGALNACT1_ENST00000332246.6_Silent_p.V265V|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000311540.4_Silent_p.V265V	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	265					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GAGGCACGATAACATTGATAA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													379	351	361			NA	NA	8		NA											NA				19315993		2203	4300	6503	SO:0001819	synonymous_variant			AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408	55790	55790		Beta 4-glycosyltransferases	24290	protein-coding gene	gene with protein product	chondroitin beta1,4 N-acetylgalactosaminyltransferase				NA	17145758, 12446672	Standard	NM_018371	NM_018371	NA	Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.795T>C	8.37:g.19315993A>G		NA	B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	37	CCDS6010.1																																																																																			CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375204.1		-	ENST00000454498.2	Silent	SNP	8 : 19315993 - 19315993 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1998	354
ACTR8	93973	broad.mit.edu	37	3	53911410	53911410	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53911410A>G	ENST00000482349.1	-	5	513	c.182T>C	c.(181-183)tTg>tCg	p.L61S	ACTR8_ENST00000335754.3_Missense_Mutation_p.L172S			Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	172					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		ATTAACATACAAGGCCTAGAA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	47	46			NA	NA	3		NA											NA				53911410		2203	4300	6503	SO:0001583	missense				CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812	93973	93973		INO80 complex subunits	14672	protein-coding gene	gene with protein product	INO80 complex subunit N		ARP8 (actin-related protein 8, yeast) homolog		NA	18163988, 16230350	Standard	NM_022899	NM_022899	NA	Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000482349.1:c.182T>C	3.37:g.53911410A>G	ENSP00000419429:p.Leu61Ser	NA	B3KSW7|Q8N566|Q9H663	37		.	.	.	.	.	.	.	.	.	.	A	23.2	4.392418	0.83011	.	.	ENSG00000113812	ENST00000335754;ENST00000482349;ENST00000498740	T;T	0.46819	0.86;0.86	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.72835	0.3510	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74945	-0.3491	10	0.35671	T	0.21	-0.0941	15.0492	0.71854	1.0:0.0:0.0:0.0	.	172	Q9H981	ARP8_HUMAN	S	172;61;61	ENSP00000336842:L172S;ENSP00000419429:L61S	ENSP00000336842:L172S	L	-	2	0	ACTR8	53886450	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	8.923000	0.92808	2.288000	0.76882	0.528000	0.53228	TTG	ACTR8-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000351655.2		-	ENST00000482349.1	Missense_Mutation	SNP	3 : 53911410 - 53911410 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	218	37
FGFR3	2261	broad.mit.edu	37	4	1808341	1808341	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1808341T>C	ENST00000481110.2	+	15	2292	c.2031T>C	c.(2029-2031)tgT>tgC	p.C677C	FGFR3_ENST00000340107.4_Missense_Mutation_p.V702A|FGFR3_ENST00000260795.2_Missense_Mutation_p.V700A|FGFR3_ENST00000412135.2_Missense_Mutation_p.V588A|FGFR3_ENST00000352904.1_Missense_Mutation_p.V588A|FGFR3_ENST00000440486.2_Missense_Mutation_p.V700A			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	0	Protein kinase.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GGCATCCCTGTGGAGGAGCTC	0.647		1	Mis, T	IGH@, ETV6	bladder, MM, T-cell lymphoma		Hypochondroplasia, Thanatophoric dysplasia		Saethre-Chotzen syndrome;Muenke syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		4	4p16.3	2261	fibroblast growth factor receptor 3	yes	L, E	0													37	38	38			NA	NA	4		NA											NA				1808341		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078	2261	2261		CD molecules, Immunoglobulin superfamily / I-set domain containing	3690	protein-coding gene	gene with protein product		134934	achondroplasia, thanatophoric dwarfism	ACH	NA	1847508	Standard	NM_000142	NM_000142	NA	Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000481110.2:c.2031T>C	4.37:g.1808341T>C		NA	D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	37		.	.	.	.	.	.	.	.	.	.	t	19.23	3.786755	0.70337	.	.	ENSG00000068078	ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	4.49	4.49	0.54785	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.78078	0.4227	N	0.04245	-0.25	0.80722	D	1	B;D;B	0.69078	0.206;0.997;0.321	P;D;P	0.80764	0.543;0.994;0.621	D	0.83890	0.0284	9	0.87932	D	0	.	14.0827	0.64934	0.0:0.0:0.0:1.0	.	702;588;700	P22607-2;P22607-3;P22607	.;.;FGFR3_HUMAN	A	702;700;588;700;588	ENSP00000339824:V702A;ENSP00000414914:V700A;ENSP00000412903:V588A;ENSP00000260795:V700A;ENSP00000231803:V588A	ENSP00000260795:V700A	V	+	2	0	FGFR3	1778139	1.000000	0.71417	0.998000	0.56505	0.692000	0.40212	7.703000	0.84585	1.790000	0.52503	0.459000	0.35465	GTG	FGFR3-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000358204.2		+	ENST00000481110.2	Silent	SNP	4 : 1808341 - 1808341 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	250	56
ACLY	47	broad.mit.edu	37	17	40048575	40048575	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40048575C>T	ENST00000352035.2	-	16	1857	c.1727G>A	c.(1726-1728)cGc>cAc	p.R576H	ACLY_ENST00000393896.2_Missense_Mutation_p.R566H|ACLY_ENST00000590151.1_Missense_Mutation_p.R576H|ACLY_ENST00000353196.1_Missense_Mutation_p.R566H|ACLY_ENST00000537919.1_Missense_Mutation_p.R305H	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	576					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				ATAGGCAGAGCGGAGAGAGGC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(64;807 1396 15971 30971)							NA				0													109	88	95			NA	NA	17		NA											NA				40048575		2203	4300	6503	SO:0001583	missense			X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	47	47	2.3.3.8		115	protein-coding gene	gene with protein product	ATP citrate synthase	108728			NA	1371749, 8088842	Standard	NM_001096	NM_001096	NA	Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.1727G>A	17.37:g.40048575C>T	ENSP00000253792:p.Arg576His	NA	Q13037|Q9BRL0	37	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	C	34	5.395884	0.96009	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.64	5.64	0.86602	CoA-binding (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.94311	0.8172	H	0.95328	3.655	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.991;0.996;0.996;0.999;0.991	D	0.95226	0.8338	10	0.87932	D	0	.	20.0666	0.97706	0.0:1.0:0.0:0.0	.	305;620;630;566;576	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	H	576;630;566;305;566	ENSP00000253792:R576H;ENSP00000345398:R566H;ENSP00000445349:R305H;ENSP00000377474:R566H	ENSP00000253792:R576H	R	-	2	0	ACLY	37302101	1.000000	0.71417	0.994000	0.49952	0.805000	0.45488	7.729000	0.84864	2.826000	0.97356	0.561000	0.74099	CGC	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257465.1		-	ENST00000352035.2	Missense_Mutation	SNP	17 : 40048575 - 40048575 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	299	45
NOTCH3	4854	broad.mit.edu	37	19	15284889	15284889	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15284889C>T	ENST00000263388.2	-	25	4801	c.4726G>A	c.(4726-4728)Gag>Aag	p.E1576K		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1576					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCGATCACCTCGGGGGCCAGC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	25	23			NA	NA	19		NA											NA				15284889		2171	4259	6430	SO:0001583	missense			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181	4854	4854		Ankyrin repeat domain containing	7883	protein-coding gene	gene with protein product		600276	Notch (Drosophila) homolog 3, Notch homolog 3 (Drosophila)	CADASIL	NA	7835890	Standard	NM_000435	NM_000435	NA	Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.4726G>A	19.37:g.15284889C>T	ENSP00000263388:p.Glu1576Lys	NA	Q9UEB3|Q9UPL3|Q9Y6L8	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192522	0.58017	.	.	ENSG00000074181	ENST00000263388	T	0.33654	1.4	4.68	4.68	0.58851	Notch, NODP domain (1);	.	.	.	.	T	0.35595	0.0937	L	0.53249	1.67	0.51012	D	0.999904	P	0.42039	0.769	B	0.40199	0.322	T	0.12967	-1.0527	9	0.21540	T	0.41	.	16.3591	0.83246	0.0:1.0:0.0:0.0	.	1576	Q9UM47	NOTC3_HUMAN	K	1576	ENSP00000263388:E1576K	ENSP00000263388:E1576K	E	-	1	0	NOTCH3	15145889	0.999000	0.42202	0.909000	0.35828	0.350000	0.29205	5.378000	0.66190	2.156000	0.67533	0.491000	0.48974	GAG	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465714.1		-	ENST00000263388.2	Missense_Mutation	SNP	19 : 15284889 - 15284889 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	301	62
GJA3	2700	broad.mit.edu	37	13	20716897	20716897	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20716897C>T	ENST00000241125.3	-	2	707	c.531G>A	c.(529-531)ccG>ccA	p.P177P		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	177					cell-cell signaling|visual perception	connexon complex|integral to membrane				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		AGCGGTAGAGCGGCTTCAGCT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	47	48			NA	NA	13		NA											NA				20716897		2203	4300	6503	SO:0001819	synonymous_variant			AF075290	CCDS9289.1	13q12.11	2008-02-05	2007-01-16		ENSG00000121743	ENSG00000121743	2700	2700		Ion channels / Gap junction proteins (connexins)	4277	protein-coding gene	gene with protein product	connexin 46	121015	gap junction protein, alpha 3, 46kD (connexin 46), gap junction protein, alpha 3, 46kDa (connexin 46)	CZP3	NA	10205266, 7342922	Standard	NM_021954	NM_021954	NA	Approved	CX46	uc001umx.1	Q9Y6H8	OTTHUMG00000016510	ENST00000241125.3:c.531G>A	13.37:g.20716897C>T		NA	Q0VAB7|Q9H537	37	CCDS9289.1																																																																																			GJA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044059.3		-	ENST00000241125.3	Silent	SNP	13 : 20716897 - 20716897 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	305	61
KIF13A	63971	broad.mit.edu	37	6	17850613	17850613	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17850613G>A	ENST00000378814.5	-	8	657	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C	KIF13A_ENST00000378843.2_Missense_Mutation_p.R220C|KIF13A_ENST00000378826.2_Missense_Mutation_p.R220C|KIF13A_ENST00000378816.5_Missense_Mutation_p.R220C|KIF13A_ENST00000259711.6_Missense_Mutation_p.R220C	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	220	Kinesin-motor.				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GCATGGGAGCGGCTGCTTTCT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	112	111			NA	NA	6		NA											NA				17850613		1952	4131	6083	SO:0001583	missense			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177	63971	63971		Kinesins	14566	protein-coding gene	gene with protein product		605433			NA	11106728	Standard		NM_022113	NA	Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000378814.5:c.658C>T	6.37:g.17850613G>A	ENSP00000368091:p.Arg220Cys	NA	A0JP21|A0JP22|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	37	CCDS47380.1	.	.	.	.	.	.	.	.	.	.	G	33	5.263361	0.95399	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28	5.78	5.78	0.91487	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	D	0.97090	0.9049	H	0.99650	4.68	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98633	1.0672	10	0.87932	D	0	.	20.0139	0.97470	0.0:0.0:1.0:0.0	.	220;220;220;220	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	C	220	ENSP00000368091:R220C;ENSP00000259711:R220C;ENSP00000368103:R220C;ENSP00000368120:R220C;ENSP00000368093:R220C	ENSP00000259711:R220C	R	-	1	0	KIF13A	17958592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.441000	0.97557	2.724000	0.93272	0.563000	0.77884	CGC	KIF13A-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367778.1		-	ENST00000378814.5	Missense_Mutation	SNP	6 : 17850613 - 17850613 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	42
MYCBP2	23077	broad.mit.edu	37	13	77632491	77632491	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77632491G>A	ENST00000544440.2	-	78	13094	c.13077C>T	c.(13075-13077)tgC>tgT	p.C4359C	MYCBP2_ENST00000407578.2_Silent_p.C4397C|MYCBP2_ENST00000357337.6_Silent_p.C4359C			O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TAACACCCCCGCATGGATGGC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	123	132			NA	NA	13		NA											NA				77632491		2203	4300	6503	SO:0001819	synonymous_variant			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810	23077	23077			23386	protein-coding gene	gene with protein product		610392	MYC binding protein 2		NA	9689053, 15057823	Standard	NM_015057	NM_015057	NA	Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.13077C>T	13.37:g.77632491G>A		NA	A6NJC6|Q5JSX8|Q5VZN6|Q6PIB6|Q9UQ11|Q9Y6E4	37		.	.	.	.	.	.	.	.	.	.	G	9.636	1.137802	0.21123	.	.	ENSG00000005810	ENST00000429715	.	.	.	5.42	-1.34	0.09143	.	.	.	.	.	T	0.58722	0.2142	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56269	-0.8007	4	.	.	.	.	12.2985	0.54860	0.5067:0.0:0.4933:0.0	.	.	.	.	W	780	.	.	R	-	1	2	MYCBP2	76530492	1.000000	0.71417	0.994000	0.49952	0.971000	0.66376	1.315000	0.33608	-0.201000	0.10284	-0.482000	0.04802	CGG	MYCBP2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000045326.1		-	ENST00000544440.2	Silent	SNP	13 : 77632491 - 77632491 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	445	69
PRPF4B	8899	broad.mit.edu	37	6	4060752	4060752	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:4060752C>T	ENST00000337659.6	+	15	3026	c.2926C>T	c.(2926-2928)Cta>Tta	p.L976L	PRPF4B_ENST00000538861.1_Silent_p.L962L|PRPF4B_ENST00000494674.1_3'UTR	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	976	Protein kinase.					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AGTACACCAGCTAAAGGACTT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	58	60			NA	NA	6		NA											NA				4060752		2203	4300	6503	SO:0001819	synonymous_variant			U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739	8899	8899			17346	protein-coding gene	gene with protein product		602338	PRP4 pre-mRNA processing factor 4 homolog B (yeast)		NA	9628581, 11418604	Standard		XR_241936	NA	Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.2926C>T	6.37:g.4060752C>T		NA	A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	37	CCDS4488.1																																																																																			PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000314018.2		+	ENST00000337659.6	Silent	SNP	6 : 4060752 - 4060752 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	21
GJA4	2701	broad.mit.edu	37	1	35260722	35260722	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35260722C>T	ENST00000342280.4	+	2	996	c.908C>T	c.(907-909)tCc>tTc	p.S303F		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	303					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CTGGCGTCTTCCAGGCCCCCT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	42	43			NA	NA	1		NA											NA				35260722		2203	4300	6503	SO:0001583	missense			M96789	CCDS30669.1	1p35.1	2008-02-05	2007-01-16		ENSG00000187513	ENSG00000187513	2701	2701		Ion channels / Gap junction proteins (connexins)	4278	protein-coding gene	gene with protein product	connexin 37	121012	gap junction protein, alpha 4, 37kD (connexin 37), gap junction protein, alpha 4, 37kDa (connexin 37)		NA	9843209, 7680674	Standard	NM_002060	XM_005270750	NA	Approved	CX37	uc001bya.3	P35212	OTTHUMG00000004050	ENST00000342280.4:c.908C>T	1.37:g.35260722C>T	ENSP00000343676:p.Ser303Phe	NA	A8K698|D3DPR4|Q9P106|Q9UBL1|Q9UNA9|Q9UNB0|Q9UNB1|Q9Y5N7	37	CCDS30669.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657035	0.47467	.	.	ENSG00000187513	ENST00000342280	D	0.97553	-4.43	5.52	5.52	0.82312	.	0.854734	0.10311	N	0.689936	D	0.96244	0.8775	L	0.44542	1.39	0.37490	D	0.916369	B	0.28512	0.214	B	0.34873	0.191	D	0.93004	0.6426	10	0.59425	D	0.04	.	19.4501	0.94863	0.0:1.0:0.0:0.0	.	303	P35212	CXA4_HUMAN	F	303	ENSP00000343676:S303F	ENSP00000343676:S303F	S	+	2	0	GJA4	35033309	0.046000	0.20272	0.668000	0.29813	0.691000	0.40173	1.444000	0.35068	2.579000	0.87056	0.561000	0.74099	TCC	GJA4-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000011556.1		+	ENST00000342280.4	Missense_Mutation	SNP	1 : 35260722 - 35260722 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	145	13
CARM1	10498	broad.mit.edu	37	19	11024705	11024705	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11024705C>T	ENST00000327064.4	+	6	1012	c.822C>T	c.(820-822)caC>caT	p.H274H	CARM1_ENST00000344150.4_Silent_p.H274H	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	274					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GCTACCTCCACGCCAAGAAGT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	56	62			NA	NA	19		NA											NA				11024705		2203	4300	6503	SO:0001819	synonymous_variant			AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453	10498	10498		Protein arginine methyltransferases	23393	protein-coding gene	gene with protein product		603934			NA	10381882, 11724789	Standard	XM_032719	NM_199141	NA	Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.822C>T	19.37:g.11024705C>T		NA	A6NN38	37	CCDS12250.1																																																																																			CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452625.1		+	ENST00000327064.4	Silent	SNP	19 : 11024705 - 11024705 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	144	32
TTN	7273	broad.mit.edu	37	2	179516866	179516866	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179516866C>T	ENST00000589042.1	-	204	39476	c.39252G>A	c.(39250-39252)gtG>gtA	p.V13084V	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.V10650V|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Silent_p.V11577V|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11437							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGCTTCAGGCACCTTCTTTT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	103	104			NA	NA	2		NA											NA				179516866		1810	4075	5885	SO:0001819	synonymous_variant			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.39252G>A	2.37:g.179516866C>T		NA	E7ET18	37	CCDS59435.1																																																																																			TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Silent	SNP	2 : 179516866 - 179516866 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	711	146
PDHA2	5161	broad.mit.edu	37	4	96761415	96761415	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96761415A>G	ENST00000295266.4	+	1	177	c.114A>G	c.(112-114)aaA>aaG	p.K38K		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	38					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	AAATTAAGAAATGTGATCTTT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	57	57			NA	NA	4		NA											NA				96761415		2203	4300	6503	SO:0001819	synonymous_variant				CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	5161	5161	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL	NA		Standard		NM_005390	NA	Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.114A>G	4.37:g.96761415A>G		NA	B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	37	CCDS3644.1																																																																																			PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253608.1		+	ENST00000295266.4	Silent	SNP	4 : 96761415 - 96761415 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	231	40
CAD	790	broad.mit.edu	37	2	27464907	27464907	+	Silent	SNP	C	C	T	rs61737366		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27464907C>T	ENST00000403525.1	+	38	5967	c.5823C>T	c.(5821-5823)ggC>ggT	p.G1941G	CAD_ENST00000264705.4_Silent_p.G2004G			P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	2004	ATCase (Aspartate transcarbamylase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TCCAGAAGGGCGAATCCCTGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	45	47			NA	NA	2		NA											NA				27464907		2203	4300	6503	SO:0001819	synonymous_variant			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	790	790	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010			NA	8619816, 2565865	Standard		NM_004341	NA	Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.5823C>T	2.37:g.27464907C>T		NA	D6W552|Q6P0Q0	37		.	.	.	.	.	.	.	.	.	.	C	8.492	0.862142	0.17178	.	.	ENSG00000084774	ENST00000428460	.	.	.	5.2	-6.68	0.01778	.	.	.	.	.	T	0.37732	0.1014	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41556	-0.9502	4	.	.	.	-9.1727	3.1304	0.06421	0.1408:0.3731:0.0805:0.4056	rs61737366	.	.	.	V	40	.	.	A	+	2	0	CAD	27318411	0.008000	0.16893	0.454000	0.27019	0.797000	0.45037	-1.082000	0.03400	-1.083000	0.03097	-0.424000	0.05967	GCG	CAD-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000324970.1		+	ENST00000403525.1	Silent	SNP	2 : 27464907 - 27464907 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	393	99
CNTN1	1272	broad.mit.edu	37	12	41387041	41387041	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41387041C>T	ENST00000551295.2	+	17	2200	c.2083C>T	c.(2083-2085)Cca>Tca	p.P695S	CNTN1_ENST00000348761.2_Missense_Mutation_p.P684S|CNTN1_ENST00000347616.1_Missense_Mutation_p.P695S	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	695	Fibronectin type-III 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GCCCAGTATACCATCTAACAG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	81	81			NA	NA	12		NA											NA				41387041		2203	4300	6503	SO:0001583	missense			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236	1272	1272		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing, Endogenous ligands	2171	protein-coding gene	gene with protein product	glycoprotein gP135	600016			NA	7959734, 8586965	Standard	NM_001843	NM_001843	NA	Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2083C>T	12.37:g.41387041C>T	ENSP00000447006:p.Pro695Ser	NA	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	37	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047596	0.75846	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.55234	0.53;0.53;0.53	5.2	5.2	0.72013	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72969	0.3527	M	0.72353	2.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.978	T	0.75628	-0.3252	10	0.72032	D	0.01	.	19.1136	0.93328	0.0:1.0:0.0:0.0	.	684;695	Q12860-2;Q12860	.;CNTN1_HUMAN	S	695;695;684	ENSP00000447006:P695S;ENSP00000325660:P695S;ENSP00000261160:P684S	ENSP00000325660:P695S	P	+	1	0	CNTN1	39673308	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	5.471000	0.66762	2.576000	0.86940	0.555000	0.69702	CCA	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403692.2		+	ENST00000551295.2	Missense_Mutation	SNP	12 : 41387041 - 41387041 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	268	40
TFAP2E	339488	broad.mit.edu	37	1	36053933	36053933	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36053933C>T	ENST00000373235.3	+	4	773	c.565C>T	c.(565-567)Ccc>Tcc	p.P189S		NM_178548.3	NP_848643.2	Q6VUC0	AP2E_HUMAN	transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)	189						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CTCCACAGTGCCCATCCCCTC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	63	68			NA	NA	1		NA											NA				36053933		2203	4300	6503	SO:0001583	missense			BC041175	CCDS393.2	1p34.3	2008-02-05			ENSG00000116819	ENSG00000116819	339488	339488			30774	protein-coding gene	gene with protein product		614428			NA	14636996	Standard	NM_178548	NM_178548	NA	Approved	AP2E	uc010ohy.2	Q6VUC0	OTTHUMG00000004388	ENST00000373235.3:c.565C>T	1.37:g.36053933C>T	ENSP00000362332:p.Pro189Ser	NA	Q8IW12	37	CCDS393.2	.	.	.	.	.	.	.	.	.	.	C	15.63	2.891777	0.52014	.	.	ENSG00000116819	ENST00000373235	D	0.97575	-4.44	5.68	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.95850	0.8649	M	0.75085	2.285	0.80722	D	1	P	0.38535	0.635	B	0.35073	0.195	D	0.96075	0.9049	10	0.59425	D	0.04	-25.056	15.0334	0.71725	0.0:0.9305:0.0:0.0695	.	189	Q6VUC0	AP2E_HUMAN	S	189	ENSP00000362332:P189S	ENSP00000362332:P189S	P	+	1	0	TFAP2E	35826520	1.000000	0.71417	1.000000	0.80357	0.520000	0.34377	5.763000	0.68818	2.683000	0.91414	0.313000	0.20887	CCC	TFAP2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000012732.1		+	ENST00000373235.3	Missense_Mutation	SNP	1 : 36053933 - 36053933 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	267	64
ZNF230	7773	broad.mit.edu	37	19	44515396	44515396	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44515396G>A	ENST00000429154.2	+	5	1433	c.1205G>A	c.(1204-1206)aGc>aAc	p.S402N		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				AAGAGCTTTAGCCGGGCTTCA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(175;914 2069 22996 47111 52600)							NA				0													82	86	84			NA	NA	19		NA											NA				44515396		2203	4300	6503	SO:0001583	missense			U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882	7773	7773		Zinc fingers, C2H2-type, -	13024	protein-coding gene	gene with protein product					NA		Standard		NM_006300	NA	Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.1205G>A	19.37:g.44515396G>A	ENSP00000409318:p.Ser402Asn	NA	O15322|Q504X7|Q86W84|Q9P1U6	37	CCDS33044.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217466	0.39201	.	.	ENSG00000159882	ENST00000429154	T	0.07567	3.18	2.33	2.33	0.28932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04588	0.0125	N	0.17474	0.49	0.21499	N	0.999666	B	0.28584	0.216	B	0.28784	0.094	T	0.42849	-0.9427	9	0.20046	T	0.44	.	4.8412	0.13491	0.0:0.236:0.5236:0.2404	.	402	Q9UIE0	ZN230_HUMAN	N	402	ENSP00000409318:S402N	ENSP00000409318:S402N	S	+	2	0	ZNF230	49207236	0.000000	0.05858	0.539000	0.28077	0.880000	0.50808	0.098000	0.15189	1.280000	0.44463	0.205000	0.17691	AGC	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460456.1		+	ENST00000429154.2	Missense_Mutation	SNP	19 : 44515396 - 44515396 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	745	128
NKRF	55922	broad.mit.edu	37	X	118724252	118724252	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118724252C>T	ENST00000371527.1	-	2	1788	c.1136G>A	c.(1135-1137)cGa>cAa	p.R379Q	NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Missense_Mutation_p.R379Q|NKRF_ENST00000542113.1_Missense_Mutation_p.R394Q	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	379					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						TAAAAACACTCGACAACGCCA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	99	102			NA	NA	X		NA											NA				118724252		2203	4300	6503	SO:0001583	missense			AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416	55922	55922		G patch domain containing	19374	protein-coding gene	gene with protein product		300440	NF-kappaB repressing factor		NA	10562553	Standard	NM_017544	NM_017544	NA	Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1136G>A	X.37:g.118724252C>T	ENSP00000360582:p.Arg379Gln	NA	Q4VC41|Q9UJ91	37	CCDS35375.1	.	.	.	.	.	.	.	.	.	.	C	7.452	0.642932	0.14451	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	D;D;D	0.98012	-4.66;-4.66;-4.66	5.85	1.13	0.20643	Double-stranded RNA-binding (1);Double-stranded RNA-binding-like (1);	0.290936	0.36740	N	0.002436	D	0.91178	0.7221	N	0.08118	0	0.26124	N	0.980517	B	0.12013	0.005	B	0.04013	0.001	T	0.81493	-0.0908	10	0.19147	T	0.46	-1.4355	10.8277	0.46643	0.0:0.5473:0.0:0.4527	.	379	O15226	NKRF_HUMAN	Q	379;379;394	ENSP00000360582:R379Q;ENSP00000304803:R379Q;ENSP00000442308:R394Q	ENSP00000304803:R379Q	R	-	2	0	NKRF	118608280	0.262000	0.24073	0.982000	0.44146	0.998000	0.95712	0.814000	0.27239	0.141000	0.18875	0.600000	0.82982	CGA	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058044.1		-	ENST00000371527.1	Missense_Mutation	SNP	X : 118724252 - 118724252 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	546	19
CELSR2	1952	broad.mit.edu	37	1	109808459	109808459	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109808459C>T	ENST00000271332.3	+	14	5891	c.5830C>T	c.(5830-5832)Cca>Tca	p.P1944S		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1944	Laminin EGF-like.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGGCCAGTGTCCATGCAAGCC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(158;1285 2011 34800 34852 42084)							NA				0													67	61	63			NA	NA	1		NA											NA				109808459		2203	4300	6503	SO:0001583	missense			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126	1952	1952		Cadherins / Major cadherins, -, GPCR / Class B : Orphans	3231	protein-coding gene	gene with protein product		604265	cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog	EGFL2	NA	9693030, 10907856	Standard	NM_001408	NM_001408	NA	Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.5830C>T	1.37:g.109808459C>T	ENSP00000271332:p.Pro1944Ser	NA	Q5T2Y7|Q92566	37	CCDS796.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666778	0.47677	.	.	ENSG00000143126	ENST00000271332	T	0.60424	0.19	4.6	4.6	0.57074	EGF-like, laminin (4);EGF-like region, conserved site (1);	.	.	.	.	T	0.23210	0.0561	L	0.27944	0.81	0.43426	D	0.995586	B	0.14012	0.009	B	0.19666	0.026	T	0.06303	-1.0834	9	0.07990	T	0.79	.	11.7701	0.51953	0.0:0.9136:0.0:0.0864	.	1944	Q9HCU4	CELR2_HUMAN	S	1944	ENSP00000271332:P1944S	ENSP00000271332:P1944S	P	+	1	0	CELSR2	109609982	0.772000	0.28567	0.997000	0.53966	0.984000	0.73092	5.881000	0.69706	2.387000	0.81309	0.462000	0.41574	CCA	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033200.1		+	ENST00000271332.3	Missense_Mutation	SNP	1 : 109808459 - 109808459 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	252	59
LRP1	4035	broad.mit.edu	37	12	57559588	57559588	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57559588C>T	ENST00000243077.3	+	16	2997	c.2531C>T	c.(2530-2532)gCg>gTg	p.A844V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	844					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTGCCCACAGCGAACCCATCC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	69	68			NA	NA	12		NA											NA				57559588		2203	4300	6503	SO:0001630	splice_region_variant			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384	4035	4035		CD molecules, Low density lipoprotein receptors	6692	protein-coding gene	gene with protein product		107770	alpha-2-macroglobulin receptor	APR, A2MR	NA	2548950	Standard	NM_002332	NM_002332	NA	Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.2531-1C>T	12.37:g.57559588C>T		NA	Q2PP12|Q8IVG8	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456331	0.63401	.	.	ENSG00000123384	ENST00000243077	D	0.95656	-3.77	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000001	D	0.90225	0.6944	N	0.26042	0.785	0.80722	D	1	B	0.15719	0.014	B	0.10450	0.005	D	0.84772	0.0768	9	.	.	.	.	11.8265	0.52269	0.0:0.9158:0.0:0.0842	.	844	Q07954	LRP1_HUMAN	V	844	ENSP00000243077:A844V	.	A	+	2	0	LRP1	55845855	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.597000	0.67577	2.826000	0.97356	0.561000	0.74099	GCG	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412772.2	Missense_Mutation	+	ENST00000243077.3	Splice_Site	SNP	12 : 57559588 - 57559588 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	464	82
PGLS	25796	broad.mit.edu	37	19	17628198	17628198	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17628198G>T	ENST00000252603.2	+	3	542	c.498G>T	c.(496-498)caG>caT	p.Q166H		NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	166						cytosol	6-phosphogluconolactonase activity			endometrium(1)|lung(1)	2						CCCTCCTACAGGTGAGCACAC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	83	82			NA	NA	19		NA											NA				17628198		2203	4300	6503	SO:0001630	splice_region_variant			AJ243972	CCDS12361.1	19p13.2	2008-02-05				ENSG00000130313	25796	25796	3.1.1.31		8903	protein-coding gene	gene with protein product		604951			NA	10518023	Standard		NM_012088	NA	Approved	6PGL	uc002ngw.3	O95336		ENST00000252603.2:c.498+1G>T	19.37:g.17628198G>T		NA		37	CCDS12361.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019145	0.75275	.	.	ENSG00000130313	ENST00000252603	T	0.43688	0.94	5.03	5.03	0.67393	Glucosamine/galactosamine-6-phosphate isomerase (1);6-phosphogluconolactonase, DevB-type (1);	0.058221	0.64402	D	0.000001	T	0.54431	0.1858	L	0.43701	1.375	0.80722	D	1	D	0.56035	0.974	D	0.64595	0.927	T	0.49615	-0.8921	10	0.35671	T	0.21	-27.893	15.8907	0.79296	0.0:0.0:1.0:0.0	.	166	O95336	6PGL_HUMAN	H	166	ENSP00000252603:Q166H	ENSP00000252603:Q166H	Q	+	3	2	PGLS	17489198	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	8.833000	0.92089	2.339000	0.79563	0.485000	0.47835	CAG	PGLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464154.1	Missense_Mutation	+	ENST00000252603.2	Splice_Site	SNP	19 : 17628198 - 17628198 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	740	70
FAM101A	144347	broad.mit.edu	37	12	124798899	124798899	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124798899G>A	ENST00000324038.3	+	3	479	c.236G>A	c.(235-237)cGc>cAc	p.R79H	FAM101A_ENST00000338359.4_Missense_Mutation_p.R79H|FAM101A_ENST00000389727.3_Missense_Mutation_p.R160H|FAM101A_ENST00000546355.1_Missense_Mutation_p.R79H	NM_181709.4	NP_859060.3	Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	160										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		CCACGCCCGCGCGCCCTGCGC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	87	89			NA	NA	12		NA											NA				124798899		2203	4298	6501	SO:0001583	missense				CCDS9258.1	12q24.31	2012-11-30			ENSG00000178882	ENSG00000178882	144347	144347			27051	protein-coding gene	gene with protein product		615927			NA	12477932	Standard	NM_181709	NM_181709	NA	Approved	FLJ44614	uc001ugd.2	Q6ZTI6	OTTHUMG00000168609	ENST00000324038.3:c.236G>A	12.37:g.124798899G>A	ENSP00000315626:p.Arg79His	NA	A5D8T5	37	CCDS9258.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419266	0.62622	.	.	ENSG00000178882	ENST00000324038;ENST00000389727;ENST00000546355;ENST00000338359	.	.	.	4.69	4.69	0.59074	.	0.190246	0.47455	D	0.000233	T	0.68668	0.3026	M	0.66939	2.045	0.38343	D	0.944114	D	0.89917	1.0	D	0.71414	0.973	T	0.73799	-0.3869	9	0.87932	D	0	-1.3042	6.1345	0.20223	0.2454:0.0:0.7546:0.0	.	160	Q6ZTI6	F101A_HUMAN	H	79;160;79;79	.	ENSP00000315626:R79H	R	+	2	0	FAM101A	123364852	0.996000	0.38824	0.683000	0.30040	0.527000	0.34593	2.094000	0.41719	2.148000	0.66965	0.555000	0.69702	CGC	FAM101A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400391.1		+	ENST00000324038.3	Missense_Mutation	SNP	12 : 124798899 - 124798899 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	848	177
ELMOD1	55531	broad.mit.edu	37	11	107501173	107501173	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:107501173C>A	ENST00000531234.1	+	4	588	c.30C>A	c.(28-30)taC>taA	p.Y10*	ELMOD1_ENST00000443271.2_Nonsense_Mutation_p.Y16*|ELMOD1_ENST00000265840.7_Nonsense_Mutation_p.Y16*			Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	16					phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		TGTATTTTTACTGTAAATTTC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	53	55			NA	NA	11		NA											NA				107501173		1851	4091	5942	SO:0001587	stop_gained			AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675	55531	55531			25334	protein-coding gene	gene with protein product		615456	ELMO domain containing 1		NA	12477932	Standard	NM_018712	NM_018712	NA	Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000531234.1:c.30C>A	11.37:g.107501173C>A	ENSP00000433232:p.Tyr10*	NA	Q9NPW3	37		.	.	.	.	.	.	.	.	.	.	C	37	6.384358	0.97524	.	.	ENSG00000110675	ENST00000531234;ENST00000265840;ENST00000443271	.	.	.	5.47	2.56	0.30785	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8347	0.40963	0.0:0.7197:0.0:0.2803	.	.	.	.	X	10;16;16	.	ENSP00000265840:Y16X	Y	+	3	2	ELMOD1	107006383	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.393000	0.44442	0.272000	0.22027	0.655000	0.94253	TAC	ELMOD1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000389405.1		+	ENST00000531234.1	Nonsense_Mutation	SNP	11 : 107501173 - 107501173 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	58	10
TMC2	117532	broad.mit.edu	37	20	2604978	2604978	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2604978C>A	ENST00000358864.1	+	17	2257	c.2242C>A	c.(2242-2244)Ctg>Atg	p.L748M		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	748						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCCAACCTTCCTGGGCAAGAT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													188	139	156			NA	NA	20		NA											NA				2604978		2203	4300	6503	SO:0001583	missense			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488	117532	117532			16527	protein-coding gene	gene with protein product		606707	transmembrane, cochlear expressed, 2	C20orf145	NA	11850618, 12906855	Standard		XM_005260660	NA	Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.2242C>A	20.37:g.2604978C>A	ENSP00000351732:p.Leu748Met	NA	Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	37	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	C	8.481	0.859717	0.17178	.	.	ENSG00000149488	ENST00000358864	T	0.68025	-0.3	4.89	2.83	0.33086	.	0.337351	0.29987	N	0.010687	T	0.52125	0.1715	L	0.39147	1.195	0.26840	N	0.968397	B	0.19200	0.034	B	0.19946	0.027	T	0.35724	-0.9777	10	0.33940	T	0.23	-10.3691	7.3929	0.26919	0.1661:0.5411:0.2928:0.0	.	748	Q8TDI7	TMC2_HUMAN	M	748	ENSP00000351732:L748M	ENSP00000351732:L748M	L	+	1	2	TMC2	2552978	0.983000	0.35010	1.000000	0.80357	0.995000	0.86356	0.378000	0.20569	2.429000	0.82318	0.557000	0.71058	CTG	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077601.2		+	ENST00000358864.1	Missense_Mutation	SNP	20 : 2604978 - 2604978 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	520	115
ITGB4	3691	broad.mit.edu	37	17	73726545	73726545	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73726545C>A	ENST00000200181.3	+	8	1149	c.962C>A	c.(961-963)cCc>cAc	p.P321H	ITGB4_ENST00000579662.1_Missense_Mutation_p.P321H|ITGB4_ENST00000339591.3_Missense_Mutation_p.P321H|ITGB4_ENST00000449880.2_Missense_Mutation_p.P321H|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Missense_Mutation_p.P321H	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	321	VWFA.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AACATCATCCCCATCTTTGCT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	108	120			NA	NA	17		NA											NA				73726545		2203	4300	6503	SO:0001583	missense				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470	3691	3691		CD molecules, Integrins, Fibronectin type III domain containing	6158	protein-coding gene	gene with protein product		147557			NA	2070796	Standard		XM_005257309	NA	Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.962C>A	17.37:g.73726545C>A	ENSP00000200181:p.Pro321His	NA	O14690|O14691|O15339|O15340|O15341|Q9UIQ4	37	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004601	0.54254	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.97688	-4.49;-4.49;-4.49	5.6	5.6	0.85130	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.99089	0.9687	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;1.0;1.0	D	0.99433	1.0936	10	0.87932	D	0	.	19.6008	0.95560	0.0:1.0:0.0:0.0	.	321;321;321;321	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	H	237;321;321;321	ENSP00000200181:P321H;ENSP00000344079:P321H;ENSP00000400217:P321H	ENSP00000200181:P321H	P	+	2	0	ITGB4	71238140	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.673000	0.83973	2.632000	0.89209	0.563000	0.77884	CCC	ITGB4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448334.1		+	ENST00000200181.3	Missense_Mutation	SNP	17 : 73726545 - 73726545 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	608	89
COG7	91949	broad.mit.edu	37	16	23430028	23430028	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23430028A>G	ENST00000307149.5	-	8	1315	c.1130T>C	c.(1129-1131)gTg>gCg	p.V377A		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	377					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TACCAGAGGCACAGCACTCAT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	86	95			NA	NA	16		NA											NA				23430028		2197	4300	6497	SO:0001583	missense			AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434	91949	91949		Components of oligomeric golgi complex	18622	protein-coding gene	gene with protein product		606978			NA	11980916	Standard		NM_153603	NA	Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.1130T>C	16.37:g.23430028A>G	ENSP00000305442:p.Val377Ala	NA	Q6UWU7	37	CCDS10610.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.826711	0.50739	.	.	ENSG00000168434	ENST00000307149	T	0.52295	0.67	5.73	5.73	0.89815	.	0.165224	0.53938	D	0.000059	T	0.43500	0.1250	L	0.46157	1.445	0.49798	D	0.99982	B	0.29671	0.254	B	0.32342	0.144	T	0.28106	-1.0054	10	0.22706	T	0.39	-14.745	15.1912	0.73047	1.0:0.0:0.0:0.0	.	377	P83436	COG7_HUMAN	A	377	ENSP00000305442:V377A	ENSP00000305442:V377A	V	-	2	0	COG7	23337529	1.000000	0.71417	0.946000	0.38457	0.299000	0.27559	9.290000	0.96065	2.185000	0.69588	0.533000	0.62120	GTG	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000211625.1		-	ENST00000307149.5	Missense_Mutation	SNP	16 : 23430028 - 23430028 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	220	41
MITF	4286	broad.mit.edu	37	3	70014281	70014281	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:70014281A>G	ENST00000352241.4	+	10	1608	c.1445A>G	c.(1444-1446)gAc>gGc	p.D482G	MITF_ENST00000472437.1_Missense_Mutation_p.D430G|MITF_ENST00000394351.3_Missense_Mutation_p.D381G|MITF_ENST00000328528.6_Missense_Mutation_p.D481G|MITF_ENST00000314589.5_Missense_Mutation_p.D466G|MITF_ENST00000531774.1_Missense_Mutation_p.D319G|MITF_ENST00000394355.2_Missense_Mutation_p.D457G|MITF_ENST00000314557.6_Missense_Mutation_p.D375G|MITF_ENST00000448226.2_Missense_Mutation_p.D488G	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	488					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CTGATGGACGACACCCTTTCT	0.532		NA	A		melanoma		Waardenburg syndrome type 2, Tietz syndrome							NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(29;269 969 31479 41502 42961)		Dom	yes		3	3p14.1	4286	microphthalmia-associated transcription factor	yes	E	0													146	125	132			NA	NA	3		NA											NA				70014281		2203	4300	6503	SO:0001583	missense				CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098	4286	4286		Basic helix-loop-helix proteins	7105	protein-coding gene	gene with protein product	homolog of mouse microphthalmia	156845	Waardenburg syndrome, type 2A	WS2A, WS2	NA	8069297, 7874167, 7951321	Standard	NM_198159	NM_198159	NA	Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000352241.4:c.1445A>G	3.37:g.70014281A>G	ENSP00000295600:p.Asp482Gly	NA	Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	37	CCDS43106.1	.	.	.	.	.	.	.	.	.	.	A	17.25	3.341746	0.61073	.	.	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000472437;ENST00000328528;ENST00000314589;ENST00000394355;ENST00000314557;ENST00000394351;ENST00000531774	T;T;T;T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.84768	0.5545	M	0.84585	2.705	0.58432	D	0.999997	D;D;D;D;D;D;P	0.60575	0.988;0.969;0.969;0.968;0.968;0.968;0.936	D;P;P;P;P;P;P	0.62955	0.909;0.688;0.688;0.734;0.734;0.853;0.693	D	0.86112	0.1563	9	.	.	.	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	430;381;375;457;466;481;482	E9PFN0;O75030-9;O75030-10;O75030-4;O75030-8;O75030-6;O75030-2	.;.;.;.;.;.;.	G	482;488;430;481;466;457;375;381;319	ENSP00000295600:D482G;ENSP00000391803:D488G;ENSP00000418845:D430G;ENSP00000327867:D481G;ENSP00000324443:D466G;ENSP00000377884:D457G;ENSP00000324246:D375G;ENSP00000377880:D381G;ENSP00000435909:D319G	.	D	+	2	0	MITF	70096971	1.000000	0.71417	0.909000	0.35828	0.415000	0.31203	6.073000	0.71245	2.371000	0.80710	0.533000	0.62120	GAC	MITF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313920.2		+	ENST00000352241.4	Missense_Mutation	SNP	3 : 70014281 - 70014281 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	388	78
NPAT	4863	broad.mit.edu	37	11	108043568	108043568	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108043568G>A	ENST00000278612.8	-	13	2248	c.2143C>T	c.(2143-2145)Cct>Tct	p.P715S	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	715					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGGGACTCAGGGTGAGAATCT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	98	101			NA	NA	11		NA											NA				108043568		1887	4119	6006	SO:0001583	missense			X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308	4863	4863			7896	protein-coding gene	gene with protein product		601448			NA	9205109	Standard	NM_002519	NM_002519	NA	Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.2143C>T	11.37:g.108043568G>A	ENSP00000278612:p.Pro715Ser	NA	A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	37	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	G	0.996	-0.692611	0.03303	.	.	ENSG00000149308	ENST00000278612	T	0.04809	3.55	6.08	-1.87	0.07737	.	0.545184	0.20071	N	0.099871	T	0.04679	0.0127	M	0.61703	1.905	0.09310	N	1	B;B	0.18610	0.023;0.029	B;B	0.17433	0.007;0.018	T	0.32079	-0.9920	10	0.38643	T	0.18	-0.4422	3.389	0.07282	0.1734:0.2359:0.4498:0.1409	.	715;715	B9EG70;Q14207	.;NPAT_HUMAN	S	715	ENSP00000278612:P715S	ENSP00000278612:P715S	P	-	1	0	NPAT	107548778	0.001000	0.12720	0.004000	0.12327	0.033000	0.12548	-0.179000	0.09768	-0.035000	0.13691	-0.768000	0.03414	CCT	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389506.2		-	ENST00000278612.8	Missense_Mutation	SNP	11 : 108043568 - 108043568 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	429	62
GAS2	2620	broad.mit.edu	37	11	22696559	22696559	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22696559A>G	ENST00000454584.2	+	2	449	c.144A>G	c.(142-144)ttA>ttG	p.L48L	GAS2_ENST00000433790.1_Splice_Site_p.L48L|GAS2_ENST00000278187.3_Splice_Site_p.L48L|GAS2_ENST00000533092.1_3'UTR	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	48	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						CCAATCTATTAGGTAAGGTTA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	73	73			NA	NA	11		NA											NA				22696559		2203	4300	6503	SO:0001630	splice_region_variant			BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935	2620	2620			4167	protein-coding gene	gene with protein product		602835			NA	9521882	Standard	NM_177553	NM_005256	NA	Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.145+1A>G	11.37:g.22696559A>G		NA	B2R9C8|D3DQZ0|Q6ICV8	37	CCDS7858.1																																																																																			GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387717.1	Silent	+	ENST00000454584.2	Splice_Site	SNP	11 : 22696559 - 22696559 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	214	36
CLK2	1196	broad.mit.edu	37	1	155234050	155234050	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155234050G>A	ENST00000368361.4	-	11	1503	c.1188C>T	c.(1186-1188)atC>atT	p.I396I	CLK2_ENST00000536801.1_Silent_p.I396I|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000355560.4_Silent_p.I394I|CLK2_ENST00000361168.5_Silent_p.I395I			P49760	CLK2_HUMAN	CDC-like kinase 2	396	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TAGGACCCAAGATCCTTTCCA	0.468		NA						Other conserved DNA damage response genes						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	106	109			NA	NA	1		NA											NA				155234050		2203	4300	6503	SO:0001819	synonymous_variant			L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444	1196	1196		CDC-like kinases	2069	protein-coding gene	gene with protein product		602989			NA	7990150, 9856501	Standard	NM_003993	XM_005244876	NA	Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.1188C>T	1.37:g.155234050G>A		NA	B1AVS9|B5MBX6|Q96CQ0	37																																																																																				CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000087391.1		-	ENST00000368361.4	Silent	SNP	1 : 155234050 - 155234050 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	430	68
UBP1	7342	broad.mit.edu	37	3	33444367	33444367	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33444367G>A	ENST00000283629.3	-	9	1486	c.957C>T	c.(955-957)gcC>gcT	p.A319A	UBP1_ENST00000447368.2_Silent_p.A283A|UBP1_ENST00000283628.5_Silent_p.A319A|UBP1_ENST00000486388.1_5'UTR	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	319					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TATTCACATAGGCTGTGGGGG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	65	70			NA	NA	3		NA											NA				33444367		2203	4300	6503	SO:0001819	synonymous_variant			AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560	7342	7342			12507	protein-coding gene	gene with protein product		609784			NA	8114710	Standard	NM_014517	NM_014517	NA	Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.957C>T	3.37:g.33444367G>A		NA	Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	37	CCDS2659.1																																																																																			UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253249.2		-	ENST00000283629.3	Silent	SNP	3 : 33444367 - 33444367 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	94	9
C2CD2	25966	broad.mit.edu	37	21	43319445	43319445	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43319445A>G	ENST00000380486.3	-	13	1828	c.1587T>C	c.(1585-1587)gcT>gcC	p.A529A	C2CD2_ENST00000329623.7_Silent_p.A374A	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	529						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						GCATCAGGGCAGCGTCGTGGT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	38	36			NA	NA	21		NA											NA				43319445		2080	4117	6197	SO:0001819	synonymous_variant			AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617	25966	25966			1266	protein-coding gene	gene with protein product	TMEM24-like		chromosome 21 open reading frame 25	C21orf25	NA	15289880	Standard	NM_015500	NM_015500	NA	Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.1587T>C	21.37:g.43319445A>G		NA	Q5R2V7|Q6AHX8|Q9NSE6	37	CCDS42933.1	.	.	.	.	.	.	.	.	.	.	A	1.964	-0.438107	0.04636	.	.	ENSG00000157617	ENST00000449165	.	.	.	4.96	-8.02	0.01118	.	.	.	.	.	T	0.47173	0.1431	.	.	.	0.39506	D	0.968282	.	.	.	.	.	.	T	0.53258	-0.8464	4	.	.	.	-14.4391	7.9098	0.29785	0.7422:0.0889:0.0808:0.0881	.	.	.	.	R	15	.	.	C	-	1	0	C2CD2	42192514	0.004000	0.15560	0.012000	0.15200	0.132000	0.20833	-0.528000	0.06193	-1.413000	0.02027	-0.464000	0.05259	TGC	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195228.2		-	ENST00000380486.3	Silent	SNP	21 : 43319445 - 43319445 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	218	12
DOLK	22845	broad.mit.edu	37	9	131708616	131708616	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131708616A>G	ENST00000372586.3	-	1	1282	c.967T>C	c.(967-969)Tca>Cca	p.S323P	RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	323					dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						TCGGAAGATGACCGCTTGGCA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	146	141			NA	NA	9		NA											NA				131708616		2203	4300	6503	SO:0001583	missense			AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283	22845	22845			23406	protein-coding gene	gene with protein product	dolichol kinase 1	610746	transmembrane protein 15	TMEM15	NA	12975309, 16923818	Standard	NM_014908	NM_014908	NA	Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.967T>C	9.37:g.131708616A>G	ENSP00000361667:p.Ser323Pro	NA	Q5SRE6	37	CCDS6915.1	.	.	.	.	.	.	.	.	.	.	A	11.39	1.625767	0.28889	.	.	ENSG00000175283	ENST00000372586	D	0.84660	-1.88	5.34	2.88	0.33553	.	0.407216	0.22669	N	0.057092	T	0.76176	0.3951	N	0.25485	0.75	0.23406	N	0.997742	B	0.25441	0.126	B	0.28709	0.093	T	0.64833	-0.6314	10	0.48119	T	0.1	-1.0358	10.5923	0.45316	0.6909:0.309:0.0:0.0	.	323	Q9UPQ8	DOLK_HUMAN	P	323	ENSP00000361667:S323P	ENSP00000361667:S323P	S	-	1	0	DOLK	130748437	0.999000	0.42202	0.959000	0.39883	0.970000	0.65996	3.698000	0.54771	0.287000	0.22375	0.379000	0.24179	TCA	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054515.1		-	ENST00000372586.3	Missense_Mutation	SNP	9 : 131708616 - 131708616 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1319	263
TMTC1	83857	broad.mit.edu	37	12	29673650	29673650	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29673650G>A	ENST00000256062.5	-	12	1938	c.1465C>T	c.(1465-1467)Cgg>Tgg	p.R489W	TMTC1_ENST00000539277.1_Missense_Mutation_p.R597W|TMTC1_ENST00000552618.1_Missense_Mutation_p.R621W|TMTC1_ENST00000551659.1_Missense_Mutation_p.R659W|TMTC1_ENST00000319685.8_5'UTR|RP11-310I24.1_ENST00000549070.1_RNA	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	597						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TCTTTAAACCGCTCCTTTAAA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	79	81			NA	NA	12		NA											NA				29673650		2203	4299	6502	SO:0001583	missense				CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687	83857	83857		Tetratricopeptide (TTC) repeat domain containing	24099	protein-coding gene	gene with protein product		615855			NA	24764305	Standard	NM_031920	NM_001193451	NA	Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000256062.5:c.1465C>T	12.37:g.29673650G>A	ENSP00000256062:p.Arg489Trp	NA	D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	37	CCDS8718.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.030790	0.54790	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277	T;T;T;T	0.66099	-0.19;-0.19;0.14;-0.19	5.14	-0.253	0.12996	Tetratricopeptide-like helical (1);PIK-related kinase, FAT (1);Tetratricopeptide repeat-containing (1);	0.296514	0.32218	N	0.006413	T	0.79930	0.4531	H	0.96080	3.765	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.63192	0.912;0.862	T	0.79999	-0.1566	9	.	.	.	-9.8495	7.4504	0.27235	0.128:0.0:0.3992:0.4729	.	597;659	Q8IUR5;F8VTQ9	TMTC1_HUMAN;.	W	360;489;659;621;597	ENSP00000256062:R489W;ENSP00000448112:R659W;ENSP00000449043:R621W;ENSP00000442046:R597W	.	R	-	1	2	TMTC1	29564917	1.000000	0.71417	0.992000	0.48379	0.646000	0.38490	2.421000	0.44688	0.348000	0.23949	-0.256000	0.11100	CGG	TMTC1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403503.1		-	ENST00000256062.5	Missense_Mutation	SNP	12 : 29673650 - 29673650 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	50
KIAA0226	9711	broad.mit.edu	37	3	197408002	197408002	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197408002G>A	ENST00000273582.5	-	17	2838	c.2293C>T	c.(2293-2295)Cgg>Tgg	p.R765W	KIAA0226_ENST00000389665.5_Missense_Mutation_p.R835W|KIAA0226_ENST00000296343.5_Missense_Mutation_p.R810W	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	810					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GGTCTTACCCGGACTTGATTG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(3;167 355 3763 15924)							NA				0													82	79	80			NA	NA	3		NA											NA				197408002		1990	4175	6165	SO:0001583	missense			D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016	9711	9711			28991	protein-coding gene	gene with protein product	RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein	613516			NA	9039502, 19270693, 20826435	Standard	XM_032901	XM_005269374	NA	Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000273582.5:c.2293C>T	3.37:g.197408002G>A	ENSP00000273582:p.Arg765Trp	NA	Q96CK5	37	CCDS46987.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.64|12.64	1.998210|1.998210	0.35226|0.35226	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000413360|ENST00000273582;ENST00000296343;ENST00000389665	.|.	.|.	.|.	4.55|4.55	2.71|2.71	0.32032|0.32032	.|.	.|0.076684	.|0.53938	.|D	.|0.000042	T|T	0.53610|0.53610	0.1807|0.1807	M|M	0.78916|0.78916	2.43|2.43	0.50171|0.50171	D|D	0.999858|0.999858	.|P;B;P	.|0.38677	.|0.642;0.199;0.557	.|B;B;B	.|0.34652	.|0.187;0.072;0.175	T|T	0.55263|0.55263	-0.8168|-0.8168	5|9	.|0.54805	.|T	.|0.06	.|.	8.942|8.942	0.35736|0.35736	0.072:0.0:0.6657:0.2623|0.072:0.0:0.6657:0.2623	.|.	.|835;765;810	.|Q92622-3;Q92622-2;Q92622	.|.;.;RUBIC_HUMAN	L|W	771|765;810;835	.|.	.|ENSP00000273582:R765W	P|R	-|-	2|1	0|2	KIAA0226|KIAA0226	198892399|198892399	0.912000|0.912000	0.30974|0.30974	0.993000|0.993000	0.49108|0.49108	0.602000|0.602000	0.36980|0.36980	0.994000|0.994000	0.29693|0.29693	0.620000|0.620000	0.30215|0.30215	0.555000|0.555000	0.69702|0.69702	CCG|CGG	KIAA0226-001	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340174.3		-	ENST00000273582.5	Missense_Mutation	SNP	3 : 197408002 - 197408002 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	71
BCLAF1	9774	broad.mit.edu	37	6	136593153	136593153	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136593153A>C	ENST00000531224.1	-	8	2275	c.2023T>G	c.(2023-2025)Ttt>Gtt	p.F675V	BCLAF1_ENST00000527536.1_Missense_Mutation_p.F675V|BCLAF1_ENST00000527759.1_Missense_Mutation_p.F673V|BCLAF1_ENST00000353331.4_Missense_Mutation_p.F673V|BCLAF1_ENST00000530767.1_Missense_Mutation_p.F502V|BCLAF1_ENST00000392348.2_Missense_Mutation_p.F673V	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	675					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTTCTTTAAAAACTCTCTCT	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(142;1534 1789 5427 7063 28491)							NA				0													77	78	78			NA	NA	6		NA											NA				136593153		2203	4296	6499	SO:0001583	missense			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363	9774	9774			16863	protein-coding gene	gene with protein product		612588			NA	8724849, 10330179	Standard	NM_014739	NM_001077440	NA	Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2023T>G	6.37:g.136593153A>C	ENSP00000435210:p.Phe675Val	NA	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	37	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	A	17.01	3.280241	0.59758	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62;2.62;2.62	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000006	T	0.02807	0.0084	N	0.08118	0	0.80722	D	1	P;B;P;B	0.34587	0.458;0.264;0.458;0.244	B;B;B;B	0.39119	0.291;0.069;0.291;0.056	T	0.42982	-0.9419	10	0.11794	T	0.64	-9.1069	10.344	0.43895	0.8534:0.0:0.0:0.1466	.	673;673;675;502	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	V	675;673;675;502;673;673;674	ENSP00000435210:F675V;ENSP00000229446:F673V;ENSP00000435441:F675V;ENSP00000436501:F502V;ENSP00000434826:F673V;ENSP00000376159:F673V;ENSP00000431734:F674V	ENSP00000229446:F673V	F	-	1	0	BCLAF1	136634846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.945000	0.63568	2.025000	0.59659	0.482000	0.46254	TTT	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042375.2		-	ENST00000531224.1	Missense_Mutation	SNP	6 : 136593153 - 136593153 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	425	48
CCDC132	55610	broad.mit.edu	37	7	92963455	92963455	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92963455T>C	ENST00000305866.5	+	22	2132	c.2004T>C	c.(2002-2004)agT>agC	p.S668S	CCDC132_ENST00000541136.1_Silent_p.S479S|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000535481.1_Silent_p.S388S|CCDC132_ENST00000544910.1_Silent_p.S638S	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	668										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TCGGCCTTAGTAGTAGTAGAC	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	146	147			NA	NA	7		NA											NA				92963455		1815	4070	5885	SO:0001819	synonymous_variant			AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766	55610	55610			25956	protein-coding gene	gene with protein product					NA	11347906	Standard	NM_017667	NM_024553	NA	Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.2004T>C	7.37:g.92963455T>C		NA	Q75N07|Q8WVK3|Q9H5C6	37	CCDS43617.1																																																																																			CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341687.1		+	ENST00000305866.5	Silent	SNP	7 : 92963455 - 92963455 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	791	169
ZNRF4	148066	broad.mit.edu	37	19	5455699	5455699	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5455699C>T	ENST00000222033.4	+	1	274	c.197C>T	c.(196-198)gCg>gTg	p.A66V		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	66						integral to membrane	zinc ion binding	p.A66V(1)		NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		ACACAGACAGCGAAGCGGGTG	0.697		NA											C	0	0	NA	NA	2184	NA	0.9997	,	,	NA	3e-04	NA	NA	NA	1e-04	0.0497	EXOME	NA	NA	3e-04	SNP								NA				1	Substitution - Missense(1)	large_intestine(1)						C	VAL/ALA	0,4120		0,0,2060	42	51	48		197	-4.4	0	19		48	1,8357		0,1,4178	no	missense	ZNRF4	NM_181710.3	64	0,1,6238	TT,TC,CC	NA	0.012,0.0,0.0080	possibly-damaging	66/430	5455699	1,12477	2060	4179	6239	SO:0001583	missense			AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428	148066	148066		RING-type (C3HC4) zinc fingers	17726	protein-coding gene	gene with protein product		612063			NA		Standard	NM_181710	NM_181710	NA	Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.197C>T	19.37:g.5455699C>T	ENSP00000222033:p.Ala66Val	NA	A8K886|O75866	37	CCDS42475.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	9.569	1.120575	0.20877	0.0	1.2E-4	ENSG00000105428	ENST00000222033	T	0.04706	3.57	3.22	-4.37	0.03633	.	.	.	.	.	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	P	0.45396	0.857	B	0.35240	0.198	T	0.46005	-0.9222	9	0.54805	T	0.06	.	10.7534	0.46221	0.3551:0.6449:0.0:0.0	.	66	Q8WWF5	ZNRF4_HUMAN	V	66	ENSP00000222033:A66V	ENSP00000222033:A66V	A	+	2	0	ZNRF4	5406699	0.015000	0.18098	0.001000	0.08648	0.016000	0.09150	-0.968000	0.03817	-0.629000	0.05575	0.313000	0.20887	GCG	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450924.1		+	ENST00000222033.4	Missense_Mutation	SNP	19 : 5455699 - 5455699 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	503	105
RANBP2	5903	broad.mit.edu	37	2	109389383	109389383	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109389383A>C	ENST00000283195.6	+	23	8299	c.8173A>C	c.(8173-8175)Aaa>Caa	p.K2725Q		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2725	2 X 50 AA approximate repeats.|Interaction with SUMO1.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AGAGAAGGCAAAAGCAGATAC	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				109389383		2203	4300	6503	SO:0001583	missense			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201	5903	5903		Tetratricopeptide (TTC) repeat domain containing	9848	protein-coding gene	gene with protein product		601181	acute necrotizing encephalopathy 1 (autosomal dominant)	ANE1	NA	7724562, 19118815	Standard	NM_006267	NM_006267	NA	Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.8173A>C	2.37:g.109389383A>C	ENSP00000283195:p.Lys2725Gln	NA	Q13074|Q15280|Q53TE2|Q59FH7	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.213182	0.79352	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.31769	1.48	5.98	5.98	0.97165	Nup358/RanBP2 E3 ligase domain (1);	.	.	.	.	T	0.29061	0.0722	N	0.24115	0.695	0.25469	N	0.987849	D	0.54772	0.968	P	0.50934	0.654	T	0.11717	-1.0576	9	0.23302	T	0.38	-28.6269	11.4836	0.50339	0.9287:0.0:0.0713:0.0	.	2725	P49792	RBP2_HUMAN	Q	1749;2725	ENSP00000283195:K2725Q	ENSP00000283195:K2725Q	K	+	1	0	RANBP2	108755815	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.793000	0.62474	2.289000	0.77006	0.482000	0.46254	AAA	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253594.1		+	ENST00000283195.6	Missense_Mutation	SNP	2 : 109389383 - 109389383 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	20
C2orf88	84281	broad.mit.edu	37	2	191064772	191064772	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191064772A>G	ENST00000340623.4	+	2	597	c.186A>G	c.(184-186)gcA>gcG	p.A62A	C2orf88_ENST00000443551.2_Silent_p.A62A|C2orf88_ENST00000409870.1_Silent_p.A62A|C2orf88_ENST00000396974.2_Silent_p.A62A	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	Q9BSF0	CB088_HUMAN	chromosome 2 open reading frame 88	62										kidney(1)|large_intestine(1)|lung(1)	3						TGGAATATGCACACCGCCTGT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													196	197	197			NA	NA	2		NA											NA				191064772		2001	4168	6169	SO:0001819	synonymous_variant			BC005083	CCDS42792.1	2q32.2	2014-02-12	2009-04-08		ENSG00000187699	ENSG00000187699	84281	84281			28191	protein-coding gene	gene with protein product	small membrane AKAP	615117			NA	23996002	Standard	NM_032321	NM_032321	NA	Approved	MGC13057, smAKAP	uc002urt.3	Q9BSF0	OTTHUMG00000154361	ENST00000340623.4:c.186A>G	2.37:g.191064772A>G		NA	D3DPI3|Q53TC7	37	CCDS42792.1																																																																																			C2orf88-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334954.1		+	ENST00000340623.4	Silent	SNP	2 : 191064772 - 191064772 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1070	169
RAD51AP1	10635	broad.mit.edu	37	12	4652985	4652985	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4652985G>T	ENST00000544927.1	+	3	134	c.124G>T	c.(124-126)Gag>Tag	p.E42*	RAD51AP1_ENST00000321524.7_Nonsense_Mutation_p.E42*|RAD51AP1_ENST00000543041.1_5'UTR|RAD51AP1_ENST00000352618.4_Nonsense_Mutation_p.E42*|RAD51AP1_ENST00000228843.9_Nonsense_Mutation_p.E42*			Q96B01	R51A1_HUMAN	RAD51 associated protein 1	42					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			AGCACCAAAGGAGTTAAAACA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	71	71			NA	NA	12		NA											NA				4652985		2203	4298	6501	SO:0001587	stop_gained			AF006259	CCDS8529.1, CCDS44805.1	12p13.2-p13.1	2004-09-16			ENSG00000111247	ENSG00000111247	10635	10635			16956	protein-coding gene	gene with protein product		603070			NA	9396801	Standard	NM_006479	NM_001130862	NA	Approved	PIR51	uc001qmw.3	Q96B01	OTTHUMG00000168125	ENST00000544927.1:c.124G>T	12.37:g.4652985G>T	ENSP00000446296:p.Glu42*	NA	A8K7D3|O43403|Q7Z779	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.1|20.1	3.934364|3.934364	0.73442|0.73442	.|.	.|.	ENSG00000111247|ENSG00000111247	ENST00000321524;ENST00000228843;ENST00000352618;ENST00000544927|ENST00000536117	.|.	.|.	.|.	4.78|4.78	4.78|4.78	0.61160|0.61160	.|.	0.575521|.	0.18618|.	N|.	0.135962|.	.|T	.|0.70378	.|0.3217	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70040	.|-0.4981	.|4	0.13853|.	T|.	0.58|.	-7.1602|-7.1602	14.5515|14.5515	0.68070|0.68070	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|V	42|36	.|.	ENSP00000228843:E42X|.	E|G	+|+	1|2	0|0	RAD51AP1|RAD51AP1	4523246|4523246	0.998000|0.998000	0.40836|0.40836	0.298000|0.298000	0.25002|0.25002	0.354000|0.354000	0.29330|0.29330	5.119000|5.119000	0.64679|0.64679	2.181000|2.181000	0.69327|0.69327	0.585000|0.585000	0.79938|0.79938	GAG|GGA	RAD51AP1-012	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000399208.1		+	ENST00000544927.1	Nonsense_Mutation	SNP	12 : 4652985 - 4652985 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	273	50
PFAS	5198	broad.mit.edu	37	17	8168391	8168391	+	Missense_Mutation	SNP	C	C	T	rs117044677	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8168391C>T	ENST00000314666.6	+	18	2361	c.2228C>T	c.(2227-2229)gCc>gTc	p.A743V	PFAS_ENST00000545834.1_Missense_Mutation_p.A319V	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	743					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCCCGGCTGGCCGTGGCCGAA	0.632		NA											C	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.9547	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	5198	5198	6.3.5.3		8863	protein-coding gene	gene with protein product	FGAR amidotransferase	602133			NA	8110788	Standard		NM_012393	NA	Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.2228C>T	17.37:g.8168391C>T	ENSP00000313490:p.Ala743Val	NA	A6H8V8	37	CCDS11136.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	19.54	3.847335	0.71603	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.53640	0.61;1.33	5.8	5.8	0.92144	PurM, N-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.56292	0.1975	M	0.88704	2.975	0.80722	D	1	P	0.47302	0.893	B	0.37692	0.256	T	0.69308	-0.5179	10	0.87932	D	0	-13.024	17.5632	0.87912	0.0:1.0:0.0:0.0	.	743	O15067	PUR4_HUMAN	V	319;743;152	ENSP00000441706:A319V;ENSP00000313490:A743V	ENSP00000313490:A743V	A	+	2	0	PFAS	8109116	1.000000	0.71417	0.945000	0.38365	0.031000	0.12232	7.035000	0.76517	2.758000	0.94735	0.563000	0.77884	GCC	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226994.2		+	ENST00000314666.6	Missense_Mutation	SNP	17 : 8168391 - 8168391 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	44
PROP1	5626	broad.mit.edu	37	5	177419780	177419780	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177419780C>T	ENST00000308304.2	-	3	919	c.611G>A	c.(610-612)gGc>gAc	p.G204D		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	204					central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCAGATGGCCGGCAGGGGC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	32	32			NA	NA	5		NA											NA				177419780		2203	4296	6499	SO:0001583	missense			AF076215	CCDS4430.1	5q35.3	2011-06-20	2007-07-12		ENSG00000175325	ENSG00000175325	5626	5626		Homeoboxes / PRD class	9455	protein-coding gene	gene with protein product		601538	prophet of Pit1, paired-like homeodomain transcription factor		NA	9462743	Standard	NM_006261	NM_006261	NA	Approved		uc003mif.1	O75360	OTTHUMG00000130887	ENST00000308304.2:c.611G>A	5.37:g.177419780C>T	ENSP00000311290:p.Gly204Asp	NA		37	CCDS4430.1	.	.	.	.	.	.	.	.	.	.	.	7.249	0.602783	0.13939	.	.	ENSG00000175325	ENST00000308304	D	0.88975	-2.45	2.22	1.27	0.21489	.	0.877909	0.09470	N	0.797763	T	0.80281	0.4594	L	0.32530	0.975	0.09310	N	1	B	0.33694	0.421	B	0.29942	0.109	T	0.67522	-0.5649	10	0.38643	T	0.18	-0.2366	5.7454	0.18118	0.318:0.682:0.0:0.0	.	204	O75360	PROP1_HUMAN	D	204	ENSP00000311290:G204D	ENSP00000311290:G204D	G	-	2	0	PROP1	177352386	0.000000	0.05858	0.386000	0.26170	0.021000	0.10359	-0.868000	0.04236	0.455000	0.26910	0.563000	0.77884	GGC	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253472.1		-	ENST00000308304.2	Missense_Mutation	SNP	5 : 177419780 - 177419780 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	120	35
EWSR1	2130	broad.mit.edu	37	22	29674083	29674083	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29674083T>G	ENST00000397938.2	+	5	610	c.291T>G	c.(289-291)gcT>gcG	p.A97A	EWSR1_ENST00000414183.2_Silent_p.A103A|EWSR1_ENST00000333395.6_Silent_p.A97A|EWSR1_ENST00000406548.1_Silent_p.A97A|EWSR1_ENST00000332035.6_Silent_p.A97A|EWSR1_ENST00000332050.6_Silent_p.A97A|EWSR1_ENST00000331029.7_Silent_p.A97A	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	97	31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GCACTGGTGCTTATGATACCA	0.552		NA	T	FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1	Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		22	22q12	2130	Ewing sarcoma breakpoint region 1 (EWS)		L, M	0													46	45	45			NA	NA	22		NA											NA				29674083		2203	4296	6499	SO:0001819	synonymous_variant				CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944	2130	2130		RNA binding motif (RRM) containing	3508	protein-coding gene	gene with protein product		133450	Ewing sarcoma breakpoint region 1		NA	1522903	Standard	NM_005243	NM_005243	NA	Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.291T>G	22.37:g.29674083T>G		NA	Q5THL0|Q92635	37	CCDS13851.1																																																																																			EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321345.1		+	ENST00000397938.2	Silent	SNP	22 : 29674083 - 29674083 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	269	58
CIITA	4261	broad.mit.edu	37	16	10996534	10996534	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:10996534G>A	ENST00000324288.8	+	8	781	c.648G>A	c.(646-648)tcG>tcA	p.S216S	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Silent_p.S167S	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	216					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CCAGTTCCTCGTTGAGCTGCC	0.522		NA	T	FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6	PMBL, Hodgkin Lymphona, 									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		16	16p13	4261	class II, major histocompatibility complex, transactivator		L	0								G		3,4391	6.2+/-15.9	0,3,2194	145	114	124		648	-6.8	0	16		124	0,8600		0,0,4300	no	coding-synonymous	CIITA	NM_000246.3		0,3,6494	AA,AG,GG	NA	0.0,0.0683,0.0231		216/1131	10996534	3,12991	2197	4300	6497	SO:0001819	synonymous_variant			U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583	4261	4261		Nucleotide-binding domain and leucine rich repeat containing	7067	protein-coding gene	gene with protein product	NLR family, acid domain containing, nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing	600005	MHC class II transactivator	MHC2TA	NA	8402893	Standard	NM_000246	NM_000246	NA	Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.648G>A	16.37:g.10996534G>A		NA	D3DUG0	37	CCDS10544.1																																																																																			CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251966.2		+	ENST00000324288.8	Silent	SNP	16 : 10996534 - 10996534 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	405	77
ADCY2	108	broad.mit.edu	37	5	7713003	7713003	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7713003G>A	ENST00000338316.4	+	11	1702	c.1613G>A	c.(1612-1614)cGc>cAc	p.R538H	ADCY2_ENST00000537121.1_Missense_Mutation_p.R358H|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	538					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTTCAAAATCGCACCTTAAGG	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	124	125			NA	NA	5		NA											NA				7713003		2203	4300	6503	SO:0001583	missense			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	108	108	4.6.1.1	Adenylate cyclases	233	protein-coding gene	gene with protein product		103071			NA	1427768	Standard	NM_020546	NM_020546	NA	Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1613G>A	5.37:g.7713003G>A	ENSP00000342952:p.Arg538His	NA	Q2NKL8|Q9UDB2|Q9UPU2	37	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	14.35	2.507890	0.44558	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;T	0.77489	-1.1;-1.1	5.88	5.88	0.94601	.	0.061950	0.64402	D	0.000012	T	0.76828	0.4042	M	0.64404	1.975	0.42518	D	0.992997	B;B	0.27140	0.096;0.169	B;B	0.23419	0.046;0.037	T	0.73487	-0.3967	10	0.45353	T	0.12	.	18.4219	0.90594	0.0:0.0:1.0:0.0	.	358;538	B7Z2C1;Q08462	.;ADCY2_HUMAN	H	538;371;358	ENSP00000342952:R538H;ENSP00000444803:R358H	ENSP00000342952:R538H	R	+	2	0	ADCY2	7766003	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.967000	0.56802	2.777000	0.95525	0.551000	0.68910	CGC	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206930.2		+	ENST00000338316.4	Missense_Mutation	SNP	5 : 7713003 - 7713003 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	179	33
VWCE	220001	broad.mit.edu	37	11	61048181	61048181	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61048181C>A	ENST00000335613.5	-	9	1625	c.1239G>T	c.(1237-1239)aaG>aaT	p.K413N		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	413	VWFC 1.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CACAGGTCACCTTCCCGTCCT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	93	100			NA	NA	11		NA											NA				61048181		2203	4299	6502	SO:0001583	missense			AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992	220001	220001			26487	protein-coding gene	gene with protein product		611115			NA	12869306	Standard	NM_152718	NM_152718	NA	Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.1239G>T	11.37:g.61048181C>A	ENSP00000334186:p.Lys413Asn	NA	A5PKV0|Q7Z7L6|Q86WK8	37	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	C	8.100	0.776415	0.16051	.	.	ENSG00000167992	ENST00000335613	T	0.73789	-0.78	5.65	0.467	0.16721	von Willebrand factor, type C (4);	0.478171	0.19258	N	0.118755	T	0.41534	0.1163	N	0.03268	-0.37	0.53005	D	0.999965	B	0.09022	0.002	B	0.09377	0.004	T	0.04078	-1.0979	10	0.19590	T	0.45	.	1.8569	0.03181	0.1254:0.3965:0.122:0.3561	.	413	Q96DN2	VWCE_HUMAN	N	413	ENSP00000334186:K413N	ENSP00000334186:K413N	K	-	3	2	VWCE	60804757	0.378000	0.25114	0.454000	0.27019	0.687000	0.40016	-0.021000	0.12504	-0.151000	0.11176	-0.136000	0.14681	AAG	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398811.1		-	ENST00000335613.5	Missense_Mutation	SNP	11 : 61048181 - 61048181 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	251	43
COL27A1	85301	broad.mit.edu	37	9	117069983	117069983	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117069983C>A	ENST00000356083.3	+	59	5533	c.5142C>A	c.(5140-5142)tcC>tcA	p.S1714S		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1714	Fibrillar collagen NC1.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TTGGCTGCTCCTCTGACACCA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													235	177	197			NA	NA	9		NA											NA				117069983		2203	4300	6503	SO:0001819	synonymous_variant			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739	85301	85301		Collagens	22986	protein-coding gene	gene with protein product		608461			NA	12766169	Standard	NM_032888	NM_032888	NA	Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.5142C>A	9.37:g.117069983C>A		NA	Q66K43|Q96JF7	37	CCDS6802.1																																																																																			COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053763.1		+	ENST00000356083.3	Silent	SNP	9 : 117069983 - 117069983 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	569	102
LAMA2	3908	broad.mit.edu	37	6	129618972	129618972	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129618972C>T	ENST00000421865.2	+	21	3048	c.2999C>T	c.(2998-3000)gCc>gTc	p.A1000V		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1000	Laminin EGF-like 10.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GACCGCTGTGCCCACGGCTAT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	63	65			NA	NA	6		NA											NA				129618972		2203	4300	6503	SO:0001583	missense			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569	3908	3908		Laminins	6482	protein-coding gene	gene with protein product	merosin, congenital muscular dystrophy	156225		LAMM	NA	2185464, 8294519	Standard		NM_000426	NA	Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2999C>T	6.37:g.129618972C>T	ENSP00000400365:p.Ala1000Val	NA	Q14736|Q5VUM2|Q93022	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435747	0.83885	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.63096	-0.02	5.59	4.71	0.59529	EGF-like, laminin (4);	0.089738	0.48286	D	0.000185	T	0.62780	0.2456	M	0.64260	1.97	0.50632	D	0.999883	D;D	0.58970	0.984;0.984	P;P	0.60236	0.871;0.871	T	0.64757	-0.6332	10	0.40728	T	0.16	.	11.413	0.49935	0.1421:0.7213:0.1366:0.0	.	1000;1000	A6NF00;P24043	.;LAMA2_HUMAN	V	1000	ENSP00000400365:A1000V	ENSP00000346769:A1000V	A	+	2	0	LAMA2	129660665	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.952000	0.56691	1.344000	0.45657	-0.181000	0.13052	GCC	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042180.1		+	ENST00000421865.2	Missense_Mutation	SNP	6 : 129618972 - 129618972 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	194	32
SVEP1	79987	broad.mit.edu	37	9	113173864	113173864	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113173864C>T	ENST00000374469.1	-	37	6321	c.6058G>A	c.(6058-6060)Gca>Aca	p.A2020T	SVEP1_ENST00000297826.5_5'UTR|SVEP1_ENST00000401783.2_Missense_Mutation_p.A2043T			Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2043	Sushi 11.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TAGTAGAATGCAATGTCTCCA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	48	47			NA	NA	9		NA											NA				113173864		1964	4147	6111	SO:0001583	missense			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124	79987	79987			15985	protein-coding gene	gene with protein product		611691	chromosome 9 open reading frame 13	C9orf13	NA		Standard		NM_153366	NA	Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000374469.1:c.6058G>A	9.37:g.113173864C>T	ENSP00000363593:p.Ala2020Thr	NA	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	37		.	.	.	.	.	.	.	.	.	.	C	26.1	4.701688	0.88924	.	.	ENSG00000165124	ENST00000401783;ENST00000374469	T;T	0.65732	-0.17;-0.17	5.98	5.98	0.97165	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.79992	0.4542	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73678	-0.3907	10	0.20519	T	0.43	.	20.4561	0.99145	0.0:1.0:0.0:0.0	.	2043	Q4LDE5	SVEP1_HUMAN	T	2043;2020	ENSP00000384917:A2043T;ENSP00000363593:A2020T	ENSP00000363593:A2020T	A	-	1	0	SVEP1	112213685	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	5.816000	0.69222	2.847000	0.97988	0.591000	0.81541	GCA	SVEP1-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000053622.1		-	ENST00000374469.1	Missense_Mutation	SNP	9 : 113173864 - 113173864 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	150	19
EDN3	1908	broad.mit.edu	37	20	57899506	57899506	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57899506G>A	ENST00000337938.2	+	5	1095	c.709G>A	c.(709-711)Gcc>Acc	p.A237T	EDN3_ENST00000311585.7_3'UTR|EDN3_ENST00000395654.3_Missense_Mutation_p.A223T|EDN3_ENST00000371025.3_3'UTR|EDN3_ENST00000371028.2_Missense_Mutation_p.A237T	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3	237					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					TCAGGAAGGAGCCCCTTAGGA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	75	74			NA	NA	20		NA											NA				57899506		2203	4300	6503	SO:0001583	missense			X52001	CCDS13477.1, CCDS13478.1, CCDS13479.1	20q13.2-q13.3	2013-02-26			ENSG00000124205	ENSG00000124205	1908	1908		Endogenous ligands	3178	protein-coding gene	gene with protein product		131242			NA		Standard	NM_000114	NM_000114	NA	Approved	ET3	uc002yaq.3	P14138	OTTHUMG00000032867	ENST00000337938.2:c.709G>A	20.37:g.57899506G>A	ENSP00000337128:p.Ala237Thr	NA	E1P5I5|Q03229	37	CCDS13477.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.724016	0.30593	.	.	ENSG00000124205	ENST00000337938;ENST00000371028;ENST00000395654	D;D;D	0.96232	-3.93;-3.93;-3.95	1.63	0.415	0.16411	.	18.429800	0.00357	U	0.000034	D	0.95711	0.8605	N	0.22421	0.69	0.09310	N	1	D;D	0.60575	0.988;0.98	D;P	0.67231	0.95;0.892	D	0.87404	0.2371	10	0.59425	D	0.04	.	4.6525	0.12601	0.0:0.0:0.6297:0.3703	.	223;237	P14138-2;P14138	.;EDN3_HUMAN	T	237;237;223	ENSP00000337128:A237T;ENSP00000360067:A237T;ENSP00000379015:A223T	ENSP00000337128:A237T	A	+	1	0	EDN3	57332901	0.000000	0.05858	0.014000	0.15608	0.333000	0.28666	-0.353000	0.07691	-0.062000	0.13088	0.655000	0.94253	GCC	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079919.2		+	ENST00000337938.2	Missense_Mutation	SNP	20 : 57899506 - 57899506 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	808	152
SCAND3	0	broad.mit.edu	37	6	28540422	28540422	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28540422G>T	ENST00000452236.2	-	4	3861	c.3244C>A	c.(3244-3246)Ctg>Atg	p.L1082M		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN		1082					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ttgccttgcagaaacactaag	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	67	67			NA	NA	6		NA											NA				28540422		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000452236.2:c.3244C>A	6.37:g.28540422G>T	ENSP00000395259:p.Leu1082Met	NA	Q2NKL9|Q5SRJ3|Q8TCN2|Q96MV9|Q96PW3	37	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.898401	0.33535	.	.	ENSG00000232040	ENST00000452236	T	0.40225	1.04	2.14	2.14	0.27477	Ribonuclease H-like (1);	0.546150	0.12347	N	0.476966	T	0.42832	0.1220	M	0.62154	1.92	0.24564	N	0.993958	D	0.58970	0.984	D	0.70487	0.969	T	0.07966	-1.0745	10	0.45353	T	0.12	.	7.8439	0.29414	0.0:0.0:1.0:0.0	.	1082	Q6R2W3	SCND3_HUMAN	M	1082	ENSP00000395259:L1082M	ENSP00000395259:L1082M	L	-	1	2	SCAND3	28648401	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.085000	0.30840	1.507000	0.48752	0.561000	0.74099	CTG	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043551.3		-	ENST00000452236.2	Missense_Mutation	SNP	6 : 28540422 - 28540422 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	499	24
DNAH10	196385	broad.mit.edu	37	12	124397810	124397810	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124397810C>T	ENST00000409039.3	+	59	9971	c.9946C>T	c.(9946-9948)Cgg>Tgg	p.R3316W		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3316					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CATGGAGAGGCGGCTGATTGC	0.537		NA											C	3	0.0014	0.01	NA	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	0.0014	0.9693	LOWCOV,EXOME	NA	NA	0.0063	SNP								NA				0								C	TRP/ARG	2,3818		0,2,1908	32	34	33		9946	2.4	0.6	12		33	0,8208		0,0,4104	yes	missense	DNAH10	NM_207437.3	101	0,2,6012	TT,TC,CC	NA	0.0,0.0524,0.0166	probably-damaging	3316/4472	124397810	2,12026	1910	4104	6014	SO:0001583	missense			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653	196385	196385		Axonemal dyneins	2941	protein-coding gene	gene with protein product		605884	dynein, axonemal, heavy polypeptide 10		NA		Standard		NM_207437	NA	Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.9946C>T	12.37:g.124397810C>T	ENSP00000386770:p.Arg3316Trp	NA	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	37	CCDS9255.2	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	20.8	4.055986	0.76074	5.24E-4	0.0	ENSG00000197653	ENST00000409039	T	0.74526	-0.85	5.43	2.43	0.29744	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.86426	0.5930	H	0.95917	3.74	0.49130	D	0.999759	D	0.76494	0.999	D	0.68483	0.958	D	0.90043	0.4143	10	0.87932	D	0	.	14.6521	0.68805	0.5145:0.4855:0.0:0.0	.	3316	Q8IVF4	DYH10_HUMAN	W	3316	ENSP00000386770:R3316W	ENSP00000386770:R3316W	R	+	1	2	DNAH10	122963763	0.287000	0.24315	0.572000	0.28498	0.974000	0.67602	0.831000	0.27476	0.193000	0.20303	0.655000	0.94253	CGG	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335420.3		+	ENST00000409039.3	Missense_Mutation	SNP	12 : 124397810 - 124397810 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	78	14
TYR	7299	broad.mit.edu	37	11	88924572	88924572	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88924572G>T	ENST00000263321.5	+	2	1524	c.1022G>T	c.(1021-1023)aGa>aTa	p.R341I	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	341					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TTCAGCTTTAGAAATACACTG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	95	94			NA	NA	11		NA											NA				88924572		2201	4299	6500	SO:0001583	missense			M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	7299	7299	1.14.18.1		12442	protein-coding gene	gene with protein product	oculocutaneous albinism IA	606933			NA		Standard	NM_000372	NM_000372	NA	Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.1022G>T	11.37:g.88924572G>T	ENSP00000263321:p.Arg341Ile	NA	Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	37	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383941	0.82792	.	.	ENSG00000077498	ENST00000263321	D	0.97378	-4.36	5.59	4.68	0.58851	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.045357	0.85682	D	0.000000	D	0.98713	0.9568	M	0.92784	3.345	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99556	1.0967	9	.	.	.	.	14.4613	0.67450	0.0705:0.0:0.9294:0.0	.	341	P14679	TYRO_HUMAN	I	341	ENSP00000263321:R341I	.	R	+	2	0	TYR	88564220	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.273000	0.95719	1.370000	0.46153	0.655000	0.94253	AGA	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394045.2		+	ENST00000263321.5	Missense_Mutation	SNP	11 : 88924572 - 88924572 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	787	146
ZSCAN29	146050	broad.mit.edu	37	15	43653581	43653581	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43653581A>C	ENST00000396976.2	-	5	2383	c.2249T>G	c.(2248-2250)aTc>aGc	p.I750S	ZSCAN29_ENST00000568898.1_Missense_Mutation_p.I360S|ZSCAN29_ENST00000562072.1_3'UTR|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.I361S	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	750					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTGGTGAATGATAAGGCTTGA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	120	122			NA	NA	15		NA											NA				43653581		2201	4299	6500	SO:0001583	missense			AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265	146050	146050		-, Zinc fingers, C2H2-type	26673	protein-coding gene	gene with protein product			zinc finger protein 690	ZNF690	NA	12434312	Standard	NM_152455	NM_152455	NA	Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.2249T>G	15.37:g.43653581A>C	ENSP00000380174:p.Ile750Ser	NA	B3KVB9|Q32M75|Q32M76|Q8NA40	37	CCDS10095.2	.	.	.	.	.	.	.	.	.	.	A	15.16	2.750813	0.49257	.	.	ENSG00000140265	ENST00000396976;ENST00000396972	T;T	0.37584	1.19;1.19	5.17	5.17	0.71159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.081571	0.52532	D	0.000068	T	0.22781	0.0550	N	0.04655	-0.195	0.37129	D	0.901151	P;B	0.46220	0.874;0.145	P;P	0.47786	0.542;0.557	T	0.18967	-1.0320	10	0.48119	T	0.1	-11.3561	8.3719	0.32421	0.8254:0.0:0.0:0.1746	.	361;750	Q8IWY8-4;Q8IWY8	.;ZSC29_HUMAN	S	750;361	ENSP00000380174:I750S;ENSP00000380170:I361S	ENSP00000380170:I361S	I	-	2	0	ZSCAN29	41440873	0.997000	0.39634	1.000000	0.80357	0.985000	0.73830	2.242000	0.43106	2.168000	0.68352	0.533000	0.62120	ATC	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253278.1		-	ENST00000396976.2	Missense_Mutation	SNP	15 : 43653581 - 43653581 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	648	123
CFI	3426	broad.mit.edu	37	4	110662246	110662246	+	Missense_Mutation	SNP	C	C	T	rs121964918		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110662246C>T	ENST00000394635.3	-	14	1658	c.1579G>A	c.(1579-1581)Gat>Aat	p.D527N	CFI_ENST00000512148.1_Missense_Mutation_p.D512N|CFI_ENST00000394634.2_Missense_Mutation_p.D519N			P05156	CFAI_HUMAN	complement factor I	519	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TTACAGGCATCGATGGAACCA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM062508	CFI	M	rs121964918						135	143	140			NA	NA	4		NA											NA				110662246		2203	4300	6503	SO:0001583	missense			J02770	CCDS34049.1	4q25	2014-09-17	2006-02-10	2006-02-10		ENSG00000205403	3426	3426	3.4.21.45	Complement system	5394	protein-coding gene	gene with protein product	Konglutinogen-activating factor, C3b-inactivator	217030	I factor (complement)	IF	NA	2956252	Standard	NM_000204	NM_000204	NA	Approved	FI, C3b-INA, KAF	uc003hzr.4	P05156		ENST00000394635.3:c.1579G>A	4.37:g.110662246C>T	ENSP00000378131:p.Asp527Asn	NA	O60442	37		.	.	.	.	.	.	.	.	.	.	C	26.1	4.704595	0.88924	.	.	ENSG00000205403	ENST00000394635;ENST00000394634;ENST00000512148	D;D;D	0.94687	-3.49;-3.49;-3.49	4.65	4.65	0.58169	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.116409	0.56097	D	0.000028	D	0.97458	0.9168	M	0.88512	2.96	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.75020	0.937;0.985;0.982	D	0.98173	1.0453	10	0.72032	D	0.01	-41.0888	15.9685	0.79995	0.0:1.0:0.0:0.0	.	527;512;519	E7ETH0;G3XAM2;P05156	.;.;CFAI_HUMAN	N	527;519;512	ENSP00000378131:D527N;ENSP00000378130:D519N;ENSP00000427438:D512N	ENSP00000378130:D519N	D	-	1	0	CFI	110881695	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	6.890000	0.75633	2.433000	0.82419	0.644000	0.83932	GAT	CFI-006	NOVEL	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000364697.2		-	ENST00000394635.3	Missense_Mutation	SNP	4 : 110662246 - 110662246 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1008	166
CCNL1	57018	broad.mit.edu	37	3	156866190	156866190	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:156866190G>A	ENST00000295926.3	-	11	1539	c.1421C>T	c.(1420-1422)tCt>tTt	p.S474F	CCNL1_ENST00000461804.1_Intron	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	474					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			CTTGCTCTGAGATCGAGAACG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													272	250	258			NA	NA	3		NA											NA				156866190		2203	4300	6503	SO:0001583	missense			AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660	57018	57018			20569	protein-coding gene	gene with protein product		613384			NA	11980906	Standard	NM_020307	NM_020307	NA	Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.1421C>T	3.37:g.156866190G>A	ENSP00000295926:p.Ser474Phe	NA	B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	37	CCDS3178.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272501	0.59649	.	.	ENSG00000163660	ENST00000295926	T	0.24350	1.86	4.99	4.99	0.66335	.	0.226724	0.46442	D	0.000294	T	0.34164	0.0888	L	0.55213	1.73	0.80722	D	1	P	0.48911	0.917	P	0.46049	0.502	T	0.15665	-1.0429	10	0.59425	D	0.04	-9.688	18.6886	0.91574	0.0:0.0:1.0:0.0	.	474	Q9UK58	CCNL1_HUMAN	F	474	ENSP00000295926:S474F	ENSP00000295926:S474F	S	-	2	0	CCNL1	158348884	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.015000	0.88690	2.458000	0.83093	0.551000	0.68910	TCT	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351859.1		-	ENST00000295926.3	Missense_Mutation	SNP	3 : 156866190 - 156866190 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1082	186
SMIM8	57150	broad.mit.edu	37	6	88046852	88046852	+	Missense_Mutation	SNP	C	C	T	rs138742161		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88046852C>T	ENST00000392863.1	+	3	192	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	SMIM8_ENST00000229570.5_Missense_Mutation_p.R35C|SMIM8_ENST00000608868.1_Missense_Mutation_p.R35C|SMIM8_ENST00000608353.1_Missense_Mutation_p.R35C|SMIM8_ENST00000608525.1_Missense_Mutation_p.R35C|RP1-102H19.8_ENST00000448282.2_Missense_Mutation_p.R35C	NM_001042493.1	NP_001035958.1			small integral membrane protein 8	NA											NA						AACCTTATTTCGTGCTGTGAA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG,CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	110	110	110		103,103	5.2	1	6	dbSNP_134	110	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	C6orf162	NM_001042493.1,NM_020425.4	180,180	0,5,6498	TT,TC,CC	NA	0.0349,0.0454,0.0384	probably-damaging,probably-damaging	35/98,35/98	88046852	5,13001	2203	4300	6503	SO:0001583	missense			AL050201	CCDS34496.1, CCDS75493.1	6q15	2013-06-21	2012-11-20	2012-11-20	ENSG00000111850	ENSG00000111850	57150	57150			21401	protein-coding gene	gene with protein product			chromosome 6 open reading frame 162	C6orf162	NA		Standard	NM_020425	NM_001287445	NA	Approved	DKFZP586E1923, dJ102H19.2	uc003plq.1	Q96KF7	OTTHUMG00000015168	ENST00000392863.1:c.103C>T	6.37:g.88046852C>T	ENSP00000376603:p.Arg35Cys	NA		37	CCDS34496.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227300	0.79576	4.54E-4	3.49E-4	ENSG00000111850	ENST00000392863;ENST00000229570	.	.	.	6.03	5.16	0.70880	.	0.065894	0.64402	D	0.000007	T	0.70482	0.3229	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.76141	-0.3068	8	0.87932	D	0	-11.0	8.666	0.34121	0.2609:0.6702:0.0:0.0689	.	35	Q96KF7	CF162_HUMAN	C	35	.	ENSP00000229570:R35C	R	+	1	0	C6orf162	88103571	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.170000	0.42443	1.564000	0.49628	0.655000	0.94253	CGT	SMIM8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000472479.2		+	ENST00000392863.1	Missense_Mutation	SNP	6 : 88046852 - 88046852 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	502	95
AKAP3	10566	broad.mit.edu	37	12	4737071	4737071	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4737071G>T	ENST00000545990.2	-	5	1521	c.997C>A	c.(997-999)Ctc>Atc	p.L333I	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Missense_Mutation_p.L333I	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	333					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GAGTCGATGAGATCCGAGACC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	156	160			NA	NA	12		NA											NA				4737071		2203	4300	6503	SO:0001583	missense			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254	10566	10566		A-kinase anchor proteins	373	protein-coding gene	gene with protein product	Fibrous Sheath Protein of 95 kDa, cancer/testis antigen 82	604689			NA	10334916, 10319321	Standard	NM_006422	NM_001278309	NA	Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.997C>A	12.37:g.4737071G>T	ENSP00000440994:p.Leu333Ile	NA	O75945|Q86X01|Q9UM61	37	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122344	0.77436	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.14516	2.5;2.5	5.67	5.67	0.87782	A-kinase anchor 110kDa, C-terminal (1);	0.000000	0.56097	D	0.000031	T	0.40862	0.1134	M	0.78801	2.425	0.36442	D	0.865521	D	0.76494	0.999	D	0.85130	0.997	T	0.45789	-0.9237	10	0.87932	D	0	-20.967	17.0413	0.86490	0.0:0.0:1.0:0.0	.	333	O75969	AKAP3_HUMAN	I	333	ENSP00000228850:L333I;ENSP00000440994:L333I	ENSP00000228850:L333I	L	-	1	0	AKAP3	4607332	1.000000	0.71417	0.996000	0.52242	0.955000	0.61496	3.569000	0.53827	2.828000	0.97474	0.655000	0.94253	CTC	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398911.2		-	ENST00000545990.2	Missense_Mutation	SNP	12 : 4737071 - 4737071 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	301	44
TRRAP	8295	broad.mit.edu	37	7	98592415	98592415	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98592415C>T	ENST00000446306.3	+	64	10239	c.10178C>T	c.(10177-10179)gCg>gTg	p.A3393V	TRRAP_ENST00000355540.3_Missense_Mutation_p.A3375V|TRRAP_ENST00000359863.4_Missense_Mutation_p.A3404V			Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3404					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCCCGGCGGGCGCAGGCCACT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	109	106			NA	NA	7		NA											NA				98592415		2203	4300	6503	SO:0001583	missense			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367	8295	8295			12347	protein-coding gene	gene with protein product		603015			NA	9708738, 9885574	Standard	NM_003496	NM_003496	NA	Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000446306.3:c.10178C>T	7.37:g.98592415C>T	ENSP00000403708:p.Ala3393Val	NA	A4D265|O75218|Q9Y631|Q9Y6H4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.727156|5.727156	0.96847|0.96847	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.03212|.	4.01;4.02|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71550|0.71550	0.3353|0.3353	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;D;D|.	0.71674|.	0.998;0.993;0.997|.	P;B;P|.	0.59221|.	0.854;0.427;0.719|.	T|T	0.68273|0.68273	-0.5452|-0.5452	10|5	0.44086|.	T|.	0.13|.	.|.	19.2202|19.2202	0.93793|0.93793	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3375;3132;3404|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	V|C	3404;3375;3392|3133	ENSP00000352925:A3404V;ENSP00000347733:A3375V|.	ENSP00000347733:A3375V|.	A|R	+|+	2|1	0|0	TRRAP|TRRAP	98430351|98430351	1.000000|1.000000	0.71417|0.71417	0.835000|0.835000	0.33067|0.33067	0.979000|0.979000	0.70002|0.70002	7.818000|7.818000	0.86416|0.86416	2.529000|2.529000	0.85273|0.85273	0.561000|0.561000	0.74099|0.74099	GCG|CGC	TRRAP-004	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000317981.3		+	ENST00000446306.3	Missense_Mutation	SNP	7 : 98592415 - 98592415 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1221	186
DCTN1	1639	broad.mit.edu	37	2	74595911	74595911	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74595911C>A	ENST00000361874.3	-	16	2115	c.1798G>T	c.(1798-1800)Ggt>Tgt	p.G600C	DCTN1_ENST00000409567.3_Missense_Mutation_p.G580C|DCTN1_ENST00000407639.2_Missense_Mutation_p.G466C|DCTN1_ENST00000409438.1_Missense_Mutation_p.G466C|DCTN1_ENST00000394003.3_Missense_Mutation_p.G593C|DCTN1_ENST00000409240.1_Missense_Mutation_p.G563C|DCTN1_ENST00000409868.1_Missense_Mutation_p.G583C	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	600					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TGGTCCCCACCTGGCCGAAGG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	124	135			NA	NA	2		NA											NA				74595911		2203	4300	6503	SO:0001583	missense				CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843	1639	1639			2711	protein-coding gene	gene with protein product	p150 glued homolog (Drosophila)	601143	dynactin 1 (p150, Glued (Drosophila) homolog)		NA	1828535	Standard	NM_004082	NM_001190836	NA	Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.1798G>T	2.37:g.74595911C>A	ENSP00000354791:p.Gly600Cys	NA	O95296|Q9BRM9|Q9UIU1|Q9UIU2	37	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038934	0.75617	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;D;T;T	0.82255	-1.16;-1.32;-1.12;-1.13;-1.59;-1.35;-1.37	5.65	4.78	0.61160	.	0.000000	0.44285	D	0.000480	D	0.90188	0.6933	M	0.74647	2.275	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0;0.997	D;D;D;D;D;P	0.97110	0.999;1.0;0.922;0.999;0.982;0.873	D	0.91352	0.5105	10	0.87932	D	0	-7.756	13.7048	0.62631	0.0:0.9255:0.0:0.0745	.	580;563;600;593;466;466	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	C	600;593;583;466;466;563;583;580	ENSP00000354791:G600C;ENSP00000377571:G593C;ENSP00000384844:G466C;ENSP00000387270:G466C;ENSP00000386406:G563C;ENSP00000387327:G583C;ENSP00000386843:G580C	ENSP00000354791:G600C	G	-	1	0	DCTN1	74449419	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.309000	0.65774	1.636000	0.50526	0.655000	0.94253	GGT	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252227.3		-	ENST00000361874.3	Missense_Mutation	SNP	2 : 74595911 - 74595911 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	513	58
ZNF518B	85460	broad.mit.edu	37	4	10445398	10445398	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:10445398G>A	ENST00000326756.3	-	3	2993	c.2555C>T	c.(2554-2556)gCt>gTt	p.A852V		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	852					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						GCTACAGACAGCACTCTCTTT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	75	75			NA	NA	4		NA											NA				10445398		2203	4300	6503	SO:0001583	missense			AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163	85460	85460		Zinc fingers, C2H2-type	29365	protein-coding gene	gene with protein product					NA	11214970	Standard	NM_053042	XM_005248193	NA	Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2555C>T	4.37:g.10445398G>A	ENSP00000317614:p.Ala852Val	NA	Q96LN8	37	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.829330	0.50845	.	.	ENSG00000178163	ENST00000326756	T	0.01613	4.73	6.02	3.3	0.37823	.	0.580762	0.16657	N	0.204927	T	0.01454	0.0047	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.46898	-0.9158	10	0.37606	T	0.19	-3.4808	7.1753	0.25740	0.1424:0.0:0.7213:0.1363	.	852	Q9C0D4	Z518B_HUMAN	V	852	ENSP00000317614:A852V	ENSP00000317614:A852V	A	-	2	0	ZNF518B	10054496	0.002000	0.14202	0.176000	0.23000	0.082000	0.17680	1.124000	0.31320	0.887000	0.36136	0.655000	0.94253	GCT	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359040.1		-	ENST00000326756.3	Missense_Mutation	SNP	4 : 10445398 - 10445398 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	423	92
KRTAP10-8	386681	broad.mit.edu	37	21	46032698	46032698	+	Silent	SNP	C	C	A	rs149614965		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46032698C>A	ENST00000334662.2	+	1	703	c.681C>A	c.(679-681)tcC>tcA	p.S227S	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	227	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						ctgtcccctcctgttgtgtcc	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	80	77			NA	NA	21		NA											NA				46032698		2203	4300	6503	SO:0001819	synonymous_variant			AB076355	CCDS13713.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000187766	ENSG00000187766	386681	386681		Keratin associated proteins	20525	protein-coding gene	gene with protein product			keratin associated protein 18-8	KRTAP18-8	NA		Standard	NM_198695	NM_198695	NA	Approved	KRTAP18.8, KAP10.8	uc002zfo.1	P60410	OTTHUMG00000057632	ENST00000334662.2:c.681C>A	21.37:g.46032698C>A		NA	A0JNW4	37	CCDS13713.1																																																																																			KRTAP10-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128035.1		+	ENST00000334662.2	Silent	SNP	21 : 46032698 - 46032698 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	532	56
BLM	641	broad.mit.edu	37	15	91347508	91347508	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91347508G>T	ENST00000560509.1	+	18	3409				BLM_ENST00000355112.3_Nonsense_Mutation_p.E1224*|BLM_ENST00000560136.1_3'UTR			P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	NA					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AGAACTTACAGAAGTCTGCAA	0.388		NA	Mis, N, F			leukemia, lymphoma, skin squamous cell , other cancers		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		L, E	0													103	108	106			NA	NA	15		NA											NA				91347508		2198	4298	6496	SO:0001627	intron_variant	Familial Cancer Database		U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299	641	641			1058	protein-coding gene	gene with protein product		604610	Bloom syndrome		NA	9388193	Standard		NM_000057	NA	Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000560509.1:c.3359-4859G>T	15.37:g.91347508G>T		NA	Q52M96	37		.	.	.	.	.	.	.	.	.	.	G	44	10.542031	0.99424	.	.	ENSG00000197299	ENST00000355112;ENST00000536925;ENST00000543977	.	.	.	5.91	5.91	0.95273	.	0.278177	0.39544	N	0.001330	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-14.6196	17.7921	0.88555	0.0:0.0:1.0:0.0	.	.	.	.	X	1224;854;411	.	ENSP00000347232:E1224X	E	+	1	0	BLM	89148512	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.204000	0.65180	2.802000	0.96397	0.655000	0.94253	GAA	BLM-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000417940.1		+	ENST00000560509.1	Intron	SNP	15 : 91347508 - 91347508 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	653	151
KLHL10	317719	broad.mit.edu	37	17	39998252	39998252	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39998252C>T	ENST00000293303.4	+	2	525	c.372C>T	c.(370-372)atC>atT	p.I124I	KLHL10_ENST00000485613.1_3'UTR	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	124						cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				TCATGGGTATCGTCAGGGGTT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	112	114			NA	NA	17		NA											NA				39998252		1997	4178	6175	SO:0001819	synonymous_variant			AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594	317719	317719		Kelch-like, BTB/POZ domain containing	18829	protein-coding gene	gene with protein product		608778	kelch-like 10 (Drosophila)		NA		Standard	NM_152467	NM_152467	NA	Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.372C>T	17.37:g.39998252C>T		NA	Q6NW28|Q96MC0	37	CCDS42340.1																																																																																			KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326535.1		+	ENST00000293303.4	Silent	SNP	17 : 39998252 - 39998252 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	81
PRDM4	11108	broad.mit.edu	37	12	108145246	108145246	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108145246G>A	ENST00000228437.5	-	5	1531	c.1072C>T	c.(1072-1074)Caa>Taa	p.Q358*	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	358					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TCTTCCATTTGCAGTGAAGGT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	83	92			NA	NA	12		NA											NA				108145246		2203	4300	6503	SO:0001587	stop_gained			AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851	11108	11108		Zinc fingers, C2H2-type	9348	protein-coding gene	gene with protein product		605780			NA	10552934	Standard	NM_012406	NM_012406	NA	Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.1072C>T	12.37:g.108145246G>A	ENSP00000228437:p.Gln358*	NA	Q9UFA6	37	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	G	35	5.533768	0.96460	.	.	ENSG00000110851	ENST00000228437;ENST00000550659	.	.	.	5.77	5.77	0.91146	.	0.052480	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	.	.	.	X	358;103	.	ENSP00000228437:Q358X	Q	-	1	0	PRDM4	106669376	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.923000	0.92808	2.885000	0.99019	0.655000	0.94253	CAA	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406546.1		-	ENST00000228437.5	Nonsense_Mutation	SNP	12 : 108145246 - 108145246 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	381	25
HSPA12B	116835	broad.mit.edu	37	20	3730865	3730865	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3730865G>A	ENST00000254963.2	+	11	1437	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	HSPA12B_ENST00000542646.1_Missense_Mutation_p.R265H	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	431							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						ACCGCTCTGCGCAGGAGCAGG	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	16	15			NA	NA	20		NA											NA				3730865		2195	4296	6491	SO:0001583	missense			AK056712	CCDS13061.1	20p13	2011-09-02	2003-04-10	2003-04-10	ENSG00000132622	ENSG00000132622	116835	116835		Heat shock proteins / HSP70	16193	protein-coding gene	gene with protein product		610702	chromosome 20 open reading frame 60	C20orf60	NA	12552099	Standard	NM_052970	NM_052970	NA	Approved	dJ1009E24.2	uc002wjd.3	Q96MM6	OTTHUMG00000031755	ENST00000254963.2:c.1292G>A	20.37:g.3730865G>A	ENSP00000254963:p.Arg431His	NA	D3DVX7|Q2TAK3|Q9BR52	37	CCDS13061.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012551	0.93346	.	.	ENSG00000132622	ENST00000254963;ENST00000542646;ENST00000399701	T;T;T	0.47528	1.42;0.84;0.84	5.66	4.71	0.59529	.	0.168975	0.47093	N	0.000248	T	0.65386	0.2686	M	0.72479	2.2	0.53688	D	0.999979	D;D	0.89917	0.996;1.0	D;D	0.72982	0.921;0.979	T	0.67106	-0.5754	10	0.51188	T	0.08	-3.7254	12.2752	0.54730	0.0826:0.0:0.9174:0.0	.	430;431	B7ZLP2;Q96MM6	.;HS12B_HUMAN	H	431;265;345	ENSP00000254963:R431H;ENSP00000441506:R265H;ENSP00000382608:R345H	ENSP00000254963:R431H	R	+	2	0	HSPA12B	3678865	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	3.137000	0.50562	1.374000	0.46228	0.563000	0.77884	CGC	HSPA12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077756.2		+	ENST00000254963.2	Missense_Mutation	SNP	20 : 3730865 - 3730865 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	117	24
EXD2	55218	broad.mit.edu	37	14	69695578	69695578	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:69695578G>A	ENST00000409018.3	+	3	507	c.379G>A	c.(379-381)Gcc>Acc	p.A127T	EXD2_ENST00000409675.1_Missense_Mutation_p.A2T|EXD2_ENST00000409949.1_Missense_Mutation_p.A2T|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409014.1_Missense_Mutation_p.A2T|EXD2_ENST00000449989.1_Missense_Mutation_p.A2T|EXD2_ENST00000409242.1_Missense_Mutation_p.A2T|EXD2_ENST00000312994.5_Missense_Mutation_p.A127T	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	2					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						TCTACAAATGGCCTCCCCAAG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	63	65			NA	NA	14		NA											NA				69695578		2203	4300	6503	SO:0001583	missense			AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177	NA	55218			20217	protein-coding gene	gene with protein product			chromosome 14 open reading frame 114, exonuclease 3'-5' domain-like 2	C14orf114, EXDL2	NA		Standard		NM_018199	NA	Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.379G>A	14.37:g.69695578G>A	ENSP00000387331:p.Ala127Thr	NA	Q8N3D3	37	CCDS53902.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.649751	0.87958	.	.	ENSG00000081177	ENST00000409018;ENST00000193422;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000413191;ENST00000449989	T;T;T;T;T;T;T;T	0.77229	-0.12;-0.6;-0.6;-0.6;-0.6;-0.12;-1.08;-0.6	5.63	5.63	0.86233	Ribonuclease H-like (1);	0.095984	0.64402	D	0.000001	D	0.88800	0.6535	M	0.79123	2.44	0.58432	D	0.999998	D;D	0.89917	1.0;0.988	D;D	0.77557	0.99;0.932	D	0.89341	0.3654	10	0.72032	D	0.01	-13.0244	19.686	0.95979	0.0:0.0:1.0:0.0	.	127;2	G5E947;Q9NVH0	.;EXD2_HUMAN	T	127;127;2;2;2;2;127;2;2	ENSP00000387331:A127T;ENSP00000386915:A2T;ENSP00000386762:A2T;ENSP00000386632:A2T;ENSP00000386839:A2T;ENSP00000313140:A127T;ENSP00000409089:A2T;ENSP00000392177:A2T	ENSP00000193422:A127T	A	+	1	0	EXD2	68765331	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.677000	0.61634	2.659000	0.90383	0.563000	0.77884	GCC	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335504.1		+	ENST00000409018.3	Missense_Mutation	SNP	14 : 69695578 - 69695578 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	220	19
CUX1	1523	broad.mit.edu	37	7	101877433	101877433	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101877433C>T	ENST00000560541.1	+	14	1843				CUX1_ENST00000550008.2_Nonsense_Mutation_p.R1123*|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000360264.3_Nonsense_Mutation_p.R1190*|CUX1_ENST00000292535.7_Nonsense_Mutation_p.R1179*|CUX1_ENST00000556210.1_Nonsense_Mutation_p.R1021*|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000546411.2_Nonsense_Mutation_p.R1077*|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000549414.2_Nonsense_Mutation_p.R1157*			P39880	CUX1_HUMAN	cut-like homeobox 1	NA					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TCTGAAAGGACGAGAGCCCTT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	85	89			NA	NA	7		NA											NA				101877433		2203	4300	6503	SO:0001627	intron_variant			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923	1523	1523		Homeoboxes / CUT class	2557	protein-coding gene	gene with protein product	golgi integral membrane protein 6	116896	cut (Drosophila)-like 1 (CCAAT displacement protein), cut-like 1, CCAAT displacement protein (Drosophila)	CUTL1	NA	8468066, 9799793, 15004235	Standard	NM_001913	NM_001202543	NA	Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000560541.1:c.1843+38550C>T	7.37:g.101877433C>T		NA	Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	37		.	.	.	.	.	.	.	.	.	.	C	40	8.128236	0.98667	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	.	.	.	5.32	4.35	0.52113	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.7042	15.861	0.79021	0.2249:0.7751:0.0:0.0	.	.	.	.	X	1190;1179;1157;1123;1077;1021	.	ENSP00000292535:R1179X	R	+	1	2	CUX1	101664153	0.923000	0.31300	1.000000	0.80357	0.997000	0.91878	1.359000	0.34113	2.486000	0.83907	0.655000	0.94253	CGA	CUX1-019	KNOWN	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000418419.1		+	ENST00000560541.1	Intron	SNP	7 : 101877433 - 101877433 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	282	84
UBA1	7317	broad.mit.edu	37	X	47058959	47058959	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47058959G>A	ENST00000335972.6	+	5	609	c.426G>A	c.(424-426)gtG>gtA	p.V142V	UBA1_ENST00000377351.4_Silent_p.V142V	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	142	2 approximate repeats.				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACAGCTATGTGCCTGTCACTG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	117	120			NA	NA	X		NA											NA				47058959		2203	4300	6503	SO:0001819	synonymous_variant			AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	7317	7317	6.3.2.19	Ubiquitin-like modifier activating enzymes	12469	protein-coding gene	gene with protein product	UBA1, ubiquitin-activating enzyme E1 homolog (yeast), POC20 centriolar protein homolog (Chlamydomonas)	314370	ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing), ubiquitin-activating enzyme E1	A1S9T, GXP1, UBE1	NA	1845793	Standard	NM_003334	NM_153280	NA	Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.426G>A	X.37:g.47058959G>A		NA	Q5JRR8|Q96E13	37	CCDS14275.1																																																																																			UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056389.1		+	ENST00000335972.6	Silent	SNP	X : 47058959 - 47058959 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	576	155
GLS	2744	broad.mit.edu	37	2	191769834	191769834	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191769834G>A	ENST00000320717.3	+	6	1178	c.920G>A	c.(919-921)cGa>cAa	p.R307Q	GLS_ENST00000338435.4_Missense_Mutation_p.R307Q	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	307					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TATGTGCATCGATATGTTGGA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	132	133			NA	NA	2		NA											NA				191769834		2203	4300	6503	SO:0001583	missense			AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	2744	2744	3.5.1.2	Ankyrin repeat domain containing	4331	protein-coding gene	gene with protein product		138280			NA	10048485	Standard		NM_014905	NA	Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.920G>A	2.37:g.191769834G>A	ENSP00000317379:p.Arg307Gln	NA	Q9UL05|Q9UL06|Q9UL07|Q9UN40	37	CCDS2308.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490238	0.64074	.	.	ENSG00000115419	ENST00000320717;ENST00000338435	T;T	0.39787	1.06;1.06	5.74	5.74	0.90152	Beta-lactamase/transpeptidase-like (1);	0.000000	0.85682	D	0.000000	T	0.20129	0.0484	N	0.03115	-0.41	0.80722	D	1	B;B	0.29531	0.046;0.247	B;B	0.14578	0.01;0.011	T	0.19224	-1.0312	10	0.06494	T	0.89	-9.0891	20.3429	0.98773	0.0:0.0:1.0:0.0	.	307;307	O94925;O94925-3	GLSK_HUMAN;.	Q	307	ENSP00000317379:R307Q;ENSP00000340689:R307Q	ENSP00000317379:R307Q	R	+	2	0	GLS	191478079	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.813000	0.99286	2.881000	0.98747	0.650000	0.86243	CGA	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255999.2		+	ENST00000320717.3	Missense_Mutation	SNP	2 : 191769834 - 191769834 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	314	56
PRSS54	221191	broad.mit.edu	37	16	58318538	58318538	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58318538C>T	ENST00000219301.4	-	6	1004	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	PRSS54_ENST00000543437.1_Missense_Mutation_p.E105K|PRSS54_ENST00000563336.1_5'UTR|PRSS54_ENST00000567164.1_Missense_Mutation_p.E204K	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	204	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTGCCGCATTCTGTCTTCTGG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	143	154			NA	NA	16		NA											NA				58318538		2198	4300	6498	SO:0001583	missense			AK058068	CCDS32463.1	16q21	2010-05-07			ENSG00000103023	ENSG00000103023	221191	221191		Serine peptidases / Serine peptidases	26336	protein-coding gene	gene with protein product	cancer/testis antigen 67				NA	17521433	Standard	NM_001080492	NM_001080492	NA	Approved	FLJ25339, KLKBL4, CT67	uc002enf.3	Q6PEW0		ENST00000219301.4:c.610G>A	16.37:g.58318538C>T	ENSP00000219301:p.Glu204Lys	NA	Q96LN9|Q9NT77	37	CCDS32463.1	.	.	.	.	.	.	.	.	.	.	C	8.641	0.896084	0.17686	.	.	ENSG00000103023	ENST00000219301;ENST00000543437	D;D	0.88509	-2.39;-2.39	5.83	4.88	0.63580	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.747469	0.12424	N	0.470150	T	0.81069	0.4746	L	0.29908	0.895	0.19775	N	0.99996	P	0.36438	0.553	B	0.37387	0.248	T	0.67381	-0.5685	10	0.05959	T	0.93	-2.453	10.6438	0.45608	0.0:0.9126:0.0:0.0874	.	204	Q6PEW0	PRS54_HUMAN	K	204;105	ENSP00000219301:E204K;ENSP00000437705:E105K	ENSP00000219301:E204K	E	-	1	0	PRSS54	56876039	0.870000	0.30015	0.731000	0.30826	0.022000	0.10575	2.661000	0.46758	1.467000	0.48044	0.563000	0.77884	GAA	PRSS54-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000422556.1		-	ENST00000219301.4	Missense_Mutation	SNP	16 : 58318538 - 58318538 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	515	106
DDHD1	80821	broad.mit.edu	37	14	53540518	53540518	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:53540518T>C	ENST00000323669.5	-	5	1336	c.1337A>G	c.(1336-1338)cAt>cGt	p.H446R	DDHD1_ENST00000357758.3_Missense_Mutation_p.H446R|DDHD1_ENST00000395606.1_Missense_Mutation_p.H453R	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	446					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					ATGTGTTGCATGGTTGGAAAA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	96	96			NA	NA	14		NA											NA				53540518		2203	4300	6503	SO:0001583	missense			AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523	NA	80821			19714	protein-coding gene	gene with protein product	phosphatidic acid-preferring phospholipase A1	614603	spastic paraplegia 28 (autosomal recessive)	SPG28	NA	11214970, 20359546	Standard		NM_030637	NA	Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.1337A>G	14.37:g.53540518T>C	ENSP00000327104:p.His446Arg	NA	Q8WVH3|Q96LL2|Q9C0F8	37	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	T	12.06	1.825067	0.32237	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	T;T;T	0.30714	1.52;1.52;1.52	5.81	5.81	0.92471	.	0.779055	0.13146	N	0.410275	T	0.14960	0.0361	N	0.05306	-0.075	0.29132	N	0.879586	B;B;B	0.20887	0.049;0.047;0.005	B;B;B	0.15052	0.012;0.007;0.006	T	0.17319	-1.0373	10	0.13853	T	0.58	-17.3861	10.0733	0.42345	0.2459:0.0:0.0:0.7541	.	453;446;446	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	R	446;453;446;317	ENSP00000327104:H446R;ENSP00000378970:H453R;ENSP00000350401:H446R	ENSP00000327104:H446R	H	-	2	0	DDHD1	52610268	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.878000	0.48515	2.210000	0.71456	0.533000	0.62120	CAT	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276901.1		-	ENST00000323669.5	Missense_Mutation	SNP	14 : 53540518 - 53540518 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	480	90
CLCN6	1185	broad.mit.edu	37	1	11898394	11898394	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11898394C>T	ENST00000346436.6	+	21	2350	c.2298C>T	c.(2296-2298)agC>agT	p.S766S	CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376487.3_Silent_p.S744S|CLCN6_ENST00000376496.3_Silent_p.S766S	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	766					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AATTGCAGAGCGCCAGCCAGC	0.642		NA									OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	47	47			NA	NA	1		NA											NA				11898394		2202	4300	6502	SO:0001819	synonymous_variant			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021	1185	1185		Ion channels / Chloride channels : Voltage-sensitive	2024	protein-coding gene	gene with protein product		602726	chloride channel 6		NA	8543009	Standard	NM_001286	NM_001286	NA	Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.2298C>T	1.37:g.11898394C>T		675	A8K1T4|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	37	CCDS138.1																																																																																			CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006639.2		+	ENST00000346436.6	Silent	SNP	1 : 11898394 - 11898394 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	209	20
CEP170B	283638	broad.mit.edu	37	14	105353352	105353352	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105353352G>A	ENST00000414716.3	+	12	3004	c.2776G>A	c.(2776-2778)Gcc>Acc	p.A926T	CEP170B_ENST00000453495.1_Missense_Mutation_p.A927T|CEP170B_ENST00000556508.1_Missense_Mutation_p.A856T|CEP170B_ENST00000418279.1_Missense_Mutation_p.A856T	NM_001112726.2	NP_001106197.1			centrosomal protein 170B	NA											NA						GGCCCTGGAGGCCCGACTCCT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	39	35			NA	NA	14		NA											NA				105353352		1974	4134	6108	SO:0001583	missense			AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814	283638	283638			20362	protein-coding gene	gene with protein product	Cep170-related		KIAA0284	KIAA0284	NA	23087211	Standard	NM_001112726	NM_015005	NA	Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.2776G>A	14.37:g.105353352G>A	ENSP00000404151:p.Ala926Thr	NA		37	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.964100	0.92791	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.59083	0.34;0.35;0.29;0.35	4.48	4.48	0.54585	.	0.133016	0.51477	D	0.000091	T	0.74966	0.3786	M	0.71036	2.16	0.58432	D	0.999999	D;D;D	0.89917	0.998;1.0;1.0	P;D;D	0.87578	0.895;0.996;0.998	T	0.77148	-0.2694	10	0.48119	T	0.1	-30.4102	17.1432	0.86759	0.0:0.0:1.0:0.0	.	926;926;856	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	T	856;926;927;856	ENSP00000451249:A856T;ENSP00000404151:A926T;ENSP00000407238:A927T;ENSP00000415006:A856T	ENSP00000404151:A926T	A	+	1	0	KIAA0284	104424397	1.000000	0.71417	0.993000	0.49108	0.837000	0.47467	9.642000	0.98461	2.032000	0.59987	0.491000	0.48974	GCC	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410289.2		+	ENST00000414716.3	Missense_Mutation	SNP	14 : 105353352 - 105353352 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	387	42
DNAH17	8632	broad.mit.edu	37	17	76498715	76498715	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76498715C>A	ENST00000585328.1	-	33	5263	c.5139G>T	c.(5137-5139)gaG>gaT	p.E1713D	DNAH17-AS1_ENST00000598378.1_3'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.E1705D	NM_173628.3	NP_775899.3			dynein, axonemal, heavy chain 17	NA										NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CATAGCCTTCCTCCAGCCTGG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	65	64			NA	NA	17		NA											NA				76498715		2033	4223	6256	SO:0001583	missense			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775	8632	8632		Axonemal dyneins	2946	protein-coding gene	gene with protein product		610063	dynein, axonemal, heavy polypeptide 17, dynein, axonemal, heavy chain like 1, dynein, axonemal, heavy like 1	DNAHL1	NA	9545504	Standard	NM_173628	NM_173628	NA	Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.5139G>T	17.37:g.76498715C>A	ENSP00000465516:p.Glu1713Asp	NA		37		.	.	.	.	.	.	.	.	.	.	C	15.65	2.897077	0.52121	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.27557	1.66	5.5	3.15	0.36227	.	.	.	.	.	T	0.48187	0.1486	M	0.83223	2.63	0.33228	D	0.55551	.	.	.	.	.	.	T	0.62765	-0.6785	7	0.54805	T	0.06	.	9.4777	0.38882	0.0:0.7015:0.0:0.2985	.	.	.	.	D	1713;1705	ENSP00000374490:E1705D	ENSP00000300671:E1713D	E	-	3	2	DNAH17	74010310	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	1.856000	0.39389	1.299000	0.44798	0.448000	0.29417	GAG	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000318962.2		-	ENST00000585328.1	Missense_Mutation	SNP	17 : 76498715 - 76498715 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	174	32
SH2D3C	10044	broad.mit.edu	37	9	130536596	130536596	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130536596C>A	ENST00000314830.8	-	2	301	c.188G>T	c.(187-189)aGt>aTt	p.S63I		NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	63					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGCTGGGGGACTCTTGGGCAC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	51	52			NA	NA	9		NA											NA				130536596		2203	4300	6503	SO:0001583	missense			AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370	10044	10044		SH2 domain containing	16884	protein-coding gene	gene with protein product		604722	SH2 domain-containing 3C		NA	10187783	Standard	NM_005489	NM_170600	NA	Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.188G>T	9.37:g.130536596C>A	ENSP00000317817:p.Ser63Ile	NA	Q5HYE5|Q6UY42|Q8N6X3|Q9Y2X5	37	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389461	0.82902	.	.	ENSG00000095370	ENST00000314830	T	0.15487	2.42	5.08	5.08	0.68730	.	0.083709	0.51477	D	0.000084	T	0.32346	0.0826	L	0.46157	1.445	0.80722	D	1	D	0.65815	0.995	P	0.60886	0.88	T	0.01884	-1.1254	10	0.87932	D	0	-0.9201	15.5724	0.76349	0.0:1.0:0.0:0.0	.	63	Q8N5H7	SH2D3_HUMAN	I	63	ENSP00000317817:S63I	ENSP00000317817:S63I	S	-	2	0	SH2D3C	129576417	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.910000	0.63321	2.546000	0.85860	0.561000	0.74099	AGT	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054264.1		-	ENST00000314830.8	Missense_Mutation	SNP	9 : 130536596 - 130536596 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	280	12
MORC1	27136	broad.mit.edu	37	3	108703566	108703566	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108703566T>C	ENST00000483760.1	-	22	2301	c.2258A>G	c.(2257-2259)aAa>aGa	p.K753R	MORC1_ENST00000232603.5_Missense_Mutation_p.K774R			Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	774					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CACTCACCTTTTCCAGCTAGG	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	88	92			NA	NA	3		NA											NA				108703566		2203	4298	6501	SO:0001583	missense			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487	27136	27136			7198	protein-coding gene	gene with protein product	cancer/testis antigen 33	603205	microrchidia (mouse) homolog, microrchidia homolog (mouse)	MORC	NA	10369865	Standard		NM_014429	NA	Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2258A>G	3.37:g.108703566T>C	ENSP00000417282:p.Lys753Arg	NA	Q7L8E2|Q9NSG7|Q9Y6D4	37		.	.	.	.	.	.	.	.	.	.	T	13.23	2.174800	0.38413	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.07688	3.21;3.17	5.49	4.35	0.52113	.	2.220440	0.01806	N	0.033169	T	0.08582	0.0213	N	0.24115	0.695	0.21967	N	0.999446	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.26677	-1.0096	10	0.46703	T	0.11	.	7.8604	0.29506	0.0:0.0906:0.0:0.9094	.	753;774	E7ERX1;Q86VD1	.;MORC1_HUMAN	R	774;753	ENSP00000232603:K774R;ENSP00000417282:K753R	ENSP00000232603:K774R	K	-	2	0	MORC1	110186256	0.922000	0.31269	0.817000	0.32601	0.753000	0.42808	1.323000	0.33701	1.116000	0.41820	0.533000	0.62120	AAA	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000353844.1		-	ENST00000483760.1	Missense_Mutation	SNP	3 : 108703566 - 108703566 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	217	50
PHACTR3	116154	broad.mit.edu	37	20	58348387	58348387	+	Missense_Mutation	SNP	C	C	T	rs148776043	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58348387C>T	ENST00000371015.1	+	6	1272	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	PHACTR3_ENST00000355648.4_Missense_Mutation_p.R228W|PHACTR3_ENST00000395639.4_Missense_Mutation_p.R158W|PHACTR3_ENST00000359926.3_Missense_Mutation_p.R266W|PHACTR3_ENST00000395636.2_Missense_Mutation_p.R228W|PHACTR3_ENST00000541461.1_Missense_Mutation_p.R228W|PHACTR3_ENST00000361300.4_Missense_Mutation_p.R158W	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	269						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CCCTTCCCTCCGGGGCCAGCT	0.647		NA											C	2	9e-04	NA	NA	2184	NA	0.9999	,	,	NA	6e-04	0.0026	NA	NA	0.001	0.9547	EXOME	NA	NA	6e-04	SNP								NA				0								C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	85	81	83		796,682,805,682,472	2.9	0.6	20	dbSNP_134	83	21,8579	14.6+/-50.1	0,21,4279	yes	missense,missense,missense,missense,missense	PHACTR3	NM_001199505.1,NM_001199506.1,NM_080672.3,NM_183244.1,NM_183246.1	101,101,101,101,101	0,22,6481	TT,TC,CC	NA	0.2442,0.0227,0.1692	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	266/557,228/519,269/560,228/519,158/449	58348387	22,12984	2203	4300	6503	SO:0001583	missense			AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495	116154	116154		Phosphatase and actin regulators	15833	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 123	608725	chromosome 20 open reading frame 101	C20orf101	NA	15107502	Standard	NM_080672	NM_001199505	NA	Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.805C>T	20.37:g.58348387C>T	ENSP00000360054:p.Arg269Trp	NA	B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	37	CCDS13480.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	14.27	2.485596	0.44147	2.27E-4	0.002442	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.33438	1.78;1.79;1.41;1.8;1.8;1.8;1.41	5.13	2.9	0.33743	.	0.056902	0.64402	D	0.000003	T	0.52996	0.1769	M	0.71581	2.175	0.52099	D	0.999944	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.991;0.991	T	0.59685	-0.7408	10	0.87932	D	0	-10.3867	13.7015	0.62611	0.3437:0.6563:0.0:0.0	.	158;269;266	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	W	266;269;158;228;228;228;158	ENSP00000353002:R266W;ENSP00000360054:R269W;ENSP00000379001:R158W;ENSP00000442483:R228W;ENSP00000347866:R228W;ENSP00000378998:R228W;ENSP00000354555:R158W	ENSP00000347866:R228W	R	+	1	2	PHACTR3	57781782	0.997000	0.39634	0.553000	0.28255	0.264000	0.26372	1.219000	0.32479	1.097000	0.41459	0.655000	0.94253	CGG	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079923.3		+	ENST00000371015.1	Missense_Mutation	SNP	20 : 58348387 - 58348387 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	700	57
KDM2B	84678	broad.mit.edu	37	12	121891035	121891035	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121891035C>T	ENST00000377069.4	-	13	2160	c.1754G>A	c.(1753-1755)tGc>tAc	p.C585Y	KDM2B_ENST00000542973.1_5'UTR|KDM2B_ENST00000377071.4_Missense_Mutation_p.C616Y|KDM2B_ENST00000536437.1_Missense_Mutation_p.C499Y	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	616					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GCAGGCCTCGCACTTGCGGCA	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	23	22			NA	NA	12		NA											NA				121891035		1990	4162	6152	SO:0001583	missense			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094	84678	84678		F-boxes / Leucine-rich repeats, Chromatin-modifying enzymes / K-demethylases	13610	protein-coding gene	gene with protein product	jumonji C domain-containing histone demethylase 1B	609078	F-box and leucine-rich repeat protein 10	FBXL10	NA	10799292	Standard	NM_032590	NM_032590	NA	Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377069.4:c.1754G>A	12.37:g.121891035C>T	ENSP00000366269:p.Cys585Tyr	NA	Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	37	CCDS41849.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.945866	0.92593	.	.	ENSG00000089094	ENST00000397480;ENST00000377069;ENST00000377071;ENST00000536437;ENST00000397478;ENST00000540043;ENST00000261824	T;T;T	0.73575	0.32;-0.3;-0.76	5.18	5.18	0.71444	Zinc finger, CXXC-type (2);	0.000000	0.56097	D	0.000021	D	0.90410	0.6998	H	0.94847	3.59	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.999	D;D;D;D;D	0.91635	0.998;0.998;0.999;0.977;0.998	D	0.92755	0.6219	10	0.87932	D	0	-19.2876	18.8727	0.92322	0.0:1.0:0.0:0.0	.	56;499;616;585;56	B7ZB05;Q1RLM7;Q8NHM5;A8MRS1;B4DSN4	.;.;KDM2B_HUMAN;.;.	Y	616;585;616;499;616;56;616	ENSP00000366269:C585Y;ENSP00000366271:C616Y;ENSP00000445196:C499Y	ENSP00000261824:C616Y	C	-	2	0	KDM2B	120375418	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.586000	0.82596	2.694000	0.91930	0.555000	0.69702	TGC	KDM2B-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402131.2		-	ENST00000377069.4	Missense_Mutation	SNP	12 : 121891035 - 121891035 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	151	29
SYNE2	23224	broad.mit.edu	37	14	64637136	64637136	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64637136C>T	ENST00000554584.1	+	91	16770				SYNE2_ENST00000344113.4_Missense_Mutation_p.R5731C|SYNE2_ENST00000555002.1_Missense_Mutation_p.R2365C|SYNE2_ENST00000357395.3_Missense_Mutation_p.R2116C|SYNE2_ENST00000358025.3_Missense_Mutation_p.R5731C|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.R2116C			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	NA					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGGCCAGGAGCGCTTCAGCCT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	89	63	72		17191,17191	-1.9	0	14		72	0,8600		0,0,4300	no	missense,missense	SYNE2	NM_015180.4,NM_182914.2	180,180	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	benign,benign	5731/6886,5731/6908	64637136	1,13005	2203	4300	6503	SO:0001627	intron_variant			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654	23224	23224			17084	protein-coding gene	gene with protein product	nuclear envelope spectrin repeat-2, nucleus and actin connecting element	608442			NA	10231032, 10878022	Standard	NM_182914	NM_182910	NA	Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000554584.1:c.16719+97C>T	14.37:g.64637136C>T		NA	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	37		.	.	.	.	.	.	.	.	.	.	C	9.561	1.118488	0.20877	2.27E-4	0.0	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000555002;ENST00000394768	T;T;T;T;T	0.49139	0.79;4.07;0.8;4.12;4.07	5.68	-1.91	0.07641	.	0.348277	0.24523	N	0.037800	T	0.13457	0.0326	N	0.00841	-1.15	0.09310	N	0.999999	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.04013	0.001;0.001;0.0;0.0	T	0.16247	-1.0409	10	0.51188	T	0.08	.	4.0351	0.09725	0.103:0.0822:0.2099:0.605	.	2116;119;5731;5731	Q8WXH0-7;Q7Z362;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	C	5731;2116;5731;2365;2116	ENSP00000350719:R5731C;ENSP00000349969:R2116C;ENSP00000341781:R5731C;ENSP00000450831:R2365C;ENSP00000378249:R2116C	ENSP00000341781:R5731C	R	+	1	0	SYNE2	63706889	0.000000	0.05858	0.002000	0.10522	0.678000	0.39670	-0.932000	0.03963	-0.583000	0.05921	0.555000	0.69702	CGC	SYNE2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000411905.1		+	ENST00000554584.1	Intron	SNP	14 : 64637136 - 64637136 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	127	25
TOX2	84969	broad.mit.edu	37	20	42683164	42683164	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42683164C>T	ENST00000358131.5	+	5	1112	c.904C>T	c.(904-906)Cag>Tag	p.Q302*	TOX2_ENST00000341197.4_Nonsense_Mutation_p.Q293*|TOX2_ENST00000372999.1_Nonsense_Mutation_p.Q251*|TOX2_ENST00000423191.2_Nonsense_Mutation_p.Q251*|TOX2_ENST00000435864.2_3'UTR	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GGAACAGAAGCAGGTGAGCCT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	41	43			NA	NA	20		NA											NA				42683164		2203	4300	6503	SO:0001587	stop_gained			BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20			84969	84969			16095	protein-coding gene	gene with protein product	granulosa cell HMG box 1	611163	chromosome 20 open reading frame 100	C20orf100	NA	14764631	Standard		NM_001098796	NA	Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.904C>T	20.37:g.42683164C>T	ENSP00000350849:p.Gln302*	NA	Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	37	CCDS42875.1	.	.	.	.	.	.	.	.	.	.	C	38	7.147499	0.98096	.	.	ENSG00000124191	ENST00000341197;ENST00000423191;ENST00000372999;ENST00000358131;ENST00000435864	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.2447	0.89981	0.0:1.0:0.0:0.0	.	.	.	.	X	293;251;251;302;171	.	ENSP00000344724:Q293X	Q	+	1	0	TOX2	42116578	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.556000	0.86216	0.650000	0.86243	CAG	TOX2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079329.2		+	ENST00000358131.5	Nonsense_Mutation	SNP	20 : 42683164 - 42683164 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	143	28
XYLT2	64132	broad.mit.edu	37	17	48434506	48434506	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48434506C>T	ENST00000017003.2	+	9	1883	c.1834C>T	c.(1834-1836)Ccc>Tcc	p.P612S	XYLT2_ENST00000507602.1_Missense_Mutation_p.P612S	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	612					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					GGCGGTGCAGCCCTCAGCCCA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	44	44			NA	NA	17		NA											NA				48434506		2203	4300	6503	SO:0001583	missense			AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	64132	64132	2.4.2.26		15517	protein-coding gene	gene with protein product	protein xylosyltransferase 2	608125			NA	11099377	Standard	NM_022167	NM_022167	NA	Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.1834C>T	17.37:g.48434506C>T	ENSP00000017003:p.Pro612Ser	NA	Q6UY41|Q86V00	37	CCDS11563.1	.	.	.	.	.	.	.	.	.	.	C	2.753	-0.259545	0.05791	.	.	ENSG00000015532	ENST00000017003;ENST00000507602	T;T	0.07216	3.75;3.21	4.92	2.94	0.34122	.	0.530450	0.21212	N	0.078289	T	0.02727	0.0082	N	0.03608	-0.345	0.29134	N	0.879486	B	0.02656	0.0	B	0.04013	0.001	T	0.42050	-0.9474	10	0.08381	T	0.77	-11.76	4.6835	0.12747	0.2167:0.6042:0.0:0.1791	.	612	Q9H1B5	XYLT2_HUMAN	S	612	ENSP00000017003:P612S;ENSP00000426501:P612S	ENSP00000017003:P612S	P	+	1	0	XYLT2	45789505	0.986000	0.35501	1.000000	0.80357	0.930000	0.56654	1.831000	0.39141	0.681000	0.31386	0.655000	0.94253	CCC	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367046.1		+	ENST00000017003.2	Missense_Mutation	SNP	17 : 48434506 - 48434506 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	242	42
C3orf67	200844	broad.mit.edu	37	3	58739540	58739540	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58739540G>A	ENST00000295966.7	-	15	2038	c.1535C>T	c.(1534-1536)cCg>cTg	p.P512L	C3orf67_ENST00000482387.1_Missense_Mutation_p.P638L	NM_198463.2	NP_940865.1	Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	504										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		CTGCTCAGCCGGCTGTTGACT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	57	56			NA	NA	3		NA											NA				58739540		2203	4300	6503	SO:0001583	missense			AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689	200844	200844			24763	protein-coding gene	gene with protein product					NA		Standard	NM_198463	NM_198463	NA	Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000295966.7:c.1535C>T	3.37:g.58739540G>A	ENSP00000295966:p.Pro512Leu	NA	B9EKV6|Q6ZV69	37	CCDS33776.1	.	.	.	.	.	.	.	.	.	.	G	6.641	0.486807	0.12641	.	.	ENSG00000163689	ENST00000295966;ENST00000482387	T;T	0.18016	2.27;2.24	5.77	5.77	0.91146	.	0.402448	0.25138	N	0.032848	T	0.18635	0.0447	L	0.36672	1.1	0.42549	D	0.993106	P;D	0.61080	0.802;0.989	B;P	0.48488	0.274;0.579	T	0.00314	-1.1824	10	0.54805	T	0.06	-4.0276	9.7198	0.40295	0.1216:0.0:0.8784:0.0	.	512;638	Q6ZVT6-2;Q6ZVT6	.;CC067_HUMAN	L	512;638	ENSP00000295966:P512L;ENSP00000417122:P638L	ENSP00000295966:P512L	P	-	2	0	C3orf67	58714580	0.226000	0.23696	0.513000	0.27749	0.514000	0.34195	3.925000	0.56484	2.885000	0.99019	0.650000	0.86243	CCG	C3orf67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353519.2		-	ENST00000295966.7	Missense_Mutation	SNP	3 : 58739540 - 58739540 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	255	42
MUC16	94025	broad.mit.edu	37	19	9046323	9046323	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9046323T>C	ENST00000397910.4	-	5	35511	c.35308A>G	c.(35308-35310)Acc>Gcc	p.T11770A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11772	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						AAGGCTGTGGTCTCTGGCATA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	126	128			NA	NA	19		NA											NA				9046323		2012	4191	6203	SO:0001583	missense			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.35308A>G	19.37:g.9046323T>C	ENSP00000381008:p.Thr11770Ala	NA	Q6ZQW5|Q96RK2	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	7.046	0.563457	0.13498	.	.	ENSG00000181143	ENST00000397910	T	0.02050	4.48	3.57	1.5	0.22942	.	.	.	.	.	T	0.02533	0.0077	L	0.43152	1.355	.	.	.	P	0.35745	0.518	B	0.36378	0.223	T	0.30851	-0.9964	8	0.87932	D	0	.	5.016	0.14337	0.0:0.2506:0.0:0.7494	.	11770	B5ME49	.	A	11770	ENSP00000381008:T11770A	ENSP00000381008:T11770A	T	-	1	0	MUC16	8907323	0.002000	0.14202	0.001000	0.08648	0.009000	0.06853	0.377000	0.20552	0.270000	0.21984	0.454000	0.30748	ACC	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Missense_Mutation	SNP	19 : 9046323 - 9046323 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	341	68
CATSPER1	117144	broad.mit.edu	37	11	65793568	65793568	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65793568C>T	ENST00000312106.5	-	1	420	c.283G>A	c.(283-285)Ggc>Agc	p.G95S		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	95	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						AGACCAAAGCCTGTGGGGCCA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	129	134			NA	NA	11		NA											NA				65793568		2201	4296	6497	SO:0001583	missense			AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294	117144	117144		Voltage-gated ion channels / Cation channels, sperm associated	17116	protein-coding gene	gene with protein product		606389			NA	11675491, 11595941, 16382101	Standard	NM_053054	NM_053054	NA	Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.283G>A	11.37:g.65793568C>T	ENSP00000309052:p.Gly95Ser	NA	Q96P76	37	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	C	7.161	0.585676	0.13749	.	.	ENSG00000175294	ENST00000312106	D	0.96265	-3.96	3.33	-5.16	0.02857	.	2.916730	0.01422	N	0.014386	D	0.91888	0.7432	L	0.43923	1.385	0.09310	N	1	B	0.22080	0.064	B	0.17722	0.019	T	0.79546	-0.1759	10	0.72032	D	0.01	6.2679	0.6048	0.00750	0.3187:0.2782:0.1112:0.2919	.	95	Q8NEC5	CTSR1_HUMAN	S	95	ENSP00000309052:G95S	ENSP00000309052:G95S	G	-	1	0	CATSPER1	65550144	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.477000	0.06583	-0.734000	0.04843	-0.314000	0.08810	GGC	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391055.1		-	ENST00000312106.5	Missense_Mutation	SNP	11 : 65793568 - 65793568 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	804	141
ZNF800	168850	broad.mit.edu	37	7	127013819	127013819	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127013819C>T	ENST00000393313.1	-	5	2162	c.1571G>A	c.(1570-1572)tGc>tAc	p.C524Y	ZNF800_ENST00000393312.1_Missense_Mutation_p.C524Y|ZNF800_ENST00000265827.3_Missense_Mutation_p.C524Y			Q2TB10	ZN800_HUMAN	zinc finger protein 800	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TTCATAAGTGCAAAGAGGACA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	67	69			NA	NA	7		NA											NA				127013819		2203	4300	6503	SO:0001583	missense			AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405	168850	168850		Zinc fingers, C2H2-type	27267	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_176814	NM_176814	NA	Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1571G>A	7.37:g.127013819C>T	ENSP00000376989:p.Cys524Tyr	NA	Q9HBN0	37	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096688	0.56075	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	D;D;D	0.99176	-5.52;-5.52;-5.52	6.07	6.07	0.98685	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	D	0.98723	0.9571	L	0.32530	0.975	0.40964	D	0.984644	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	D	0.99066	1.0832	8	.	.	.	-12.6818	19.6475	0.95784	0.0:1.0:0.0:0.0	.	427;524	B7Z4V7;Q2TB10	.;ZN800_HUMAN	Y	524	ENSP00000376989:C524Y;ENSP00000265827:C524Y;ENSP00000376988:C524Y	.	C	-	2	0	ZNF800	126801055	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.885000	0.99019	0.655000	0.94253	TGC	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000141823.1		-	ENST00000393313.1	Missense_Mutation	SNP	7 : 127013819 - 127013819 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	461	80
ZC3H4	23211	broad.mit.edu	37	19	47570756	47570756	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47570756C>T	ENST00000253048.5	-	15	2806	c.2769G>A	c.(2767-2769)acG>acA	p.T923T	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	923							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CCTCCTCCTCCGTTGGGGGCG	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	45	43			NA	NA	19		NA											NA				47570756		1900	4096	5996	SO:0001819	synonymous_variant			AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749	23211	23211		Zinc fingers, CCCH-type domain containing	17808	protein-coding gene	gene with protein product			chromosome 19 open reading frame 7	C19orf7	NA		Standard		NM_015168	NA	Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2769G>A	19.37:g.47570756C>T		NA	Q9Y420	37	CCDS42582.1																																																																																			ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466667.1		-	ENST00000253048.5	Silent	SNP	19 : 47570756 - 47570756 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	571	23
AHNAK2	113146	broad.mit.edu	37	14	105419440	105419440	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105419440G>T	ENST00000557457.1	-	1	24				AHNAK2_ENST00000333244.5_Missense_Mutation_p.P783H			Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	NA						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTCCGCCTTGGGGCCTTTCAG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	125	121			NA	NA	14		NA											NA				105419440		1857	4091	5948	SO:0001627	intron_variant			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567	113146	113146			20125	protein-coding gene	gene with protein product		608570	chromosome 14 open reading frame 78	C14orf78	NA	15007166	Standard	NM_138420	NM_138420	NA	Approved		uc010axc.1	Q8IVF2		ENST00000557457.1:c.219+777C>A	14.37:g.105419440G>T		NA	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	37		.	.	.	.	.	.	.	.	.	.	g	13.00	2.106012	0.37145	.	.	ENSG00000185567	ENST00000333244	T	0.03035	4.07	3.12	2.21	0.28008	.	.	.	.	.	T	0.19087	0.0458	M	0.91510	3.215	0.09310	N	1	D	0.67145	0.996	D	0.77004	0.989	T	0.05194	-1.0900	9	0.44086	T	0.13	.	6.823	0.23866	0.2304:0.0:0.7696:0.0	.	783	Q8IVF2	AHNK2_HUMAN	H	783	ENSP00000353114:P783H	ENSP00000353114:P783H	P	-	2	0	AHNAK2	104490485	0.003000	0.15002	0.004000	0.12327	0.008000	0.06430	0.699000	0.25586	0.297000	0.22615	0.485000	0.47835	CCC	AHNAK2-003	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000410299.1		-	ENST00000557457.1	Intron	SNP	14 : 105419440 - 105419440 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1116	256
ZNF366	167465	broad.mit.edu	37	5	71739689	71739689	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71739689C>T	ENST00000318442.5	-	5	2619	c.2129G>A	c.(2128-2130)cGg>cAg	p.R710Q		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	710					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		AGAGGGGCCCCGCCGGGTACT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	69	79	76		2129	2.7	1	5		76	0,8600		0,0,4300	no	missense	ZNF366	NM_152625.1	43	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	benign	710/745	71739689	1,13005	2203	4300	6503	SO:0001583	missense			AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175	NA	167465		Zinc fingers, C2H2-type	18316	protein-coding gene	gene with protein product		610159			NA		Standard		NM_152625	NA	Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.2129G>A	5.37:g.71739689C>T	ENSP00000313158:p.Arg710Gln	NA	Q7RTV4	37	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410426	0.42715	2.27E-4	0.0	ENSG00000178175	ENST00000318442	T	0.08282	3.11	5.87	2.65	0.31530	.	0.195578	0.35407	N	0.003234	T	0.04003	0.0112	N	0.12182	0.205	0.22940	N	0.998537	B	0.20052	0.041	B	0.08055	0.003	T	0.41770	-0.9490	10	0.24483	T	0.36	-27.7783	6.7823	0.23652	0.4795:0.4319:0.0:0.0886	.	710	Q8N895	ZN366_HUMAN	Q	710	ENSP00000313158:R710Q	ENSP00000313158:R710Q	R	-	2	0	ZNF366	71775445	0.053000	0.20554	0.969000	0.41365	0.938000	0.57974	0.801000	0.27055	0.905000	0.36596	0.655000	0.94253	CGG	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000218574.3		-	ENST00000318442.5	Missense_Mutation	SNP	5 : 71739689 - 71739689 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	742	27
TBCCD1	55171	broad.mit.edu	37	3	186272090	186272090	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186272090C>T	ENST00000446782.1	-	5	1372	c.1209G>A	c.(1207-1209)caG>caA	p.Q403Q	TBCCD1_ENST00000479590.1_5'UTR|TBCCD1_ENST00000424280.1_Silent_p.Q499Q|TBCCD1_ENST00000338733.5_Silent_p.Q499Q			Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	499	C-CAP/cofactor C-like.				cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		TCTGTATCTTCTGTTCTCTTT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	90	87			NA	NA	3		NA											NA				186272090		2203	4300	6503	SO:0001819	synonymous_variant			BC025748	CCDS3276.1, CCDS75061.1	3q27.3	2006-03-09			ENSG00000113838	ENSG00000113838	55171	55171			25546	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_018138	NM_001134415	NA	Approved	FLJ10560	uc003fqg.3	Q9NVR7	OTTHUMG00000156613	ENST00000446782.1:c.1209G>A	3.37:g.186272090C>T		NA	D3DNU6	37																																																																																				TBCCD1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000344775.1		-	ENST00000446782.1	Silent	SNP	3 : 186272090 - 186272090 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	810	142
MEGF9	1955	broad.mit.edu	37	9	123384921	123384921	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123384921G>A	ENST00000373930.3	-	3	1027	c.916C>T	c.(916-918)Cgg>Tgg	p.R306W	MEGF9_ENST00000426959.1_Missense_Mutation_p.R343W	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	306	Laminin EGF-like 3.					integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						CTGGCAGACCGATTATTGCAT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	99	99			NA	NA	9		NA											NA				123384921		1977	4168	6145	SO:0001583	missense			AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780	1955	1955			3234	protein-coding gene	gene with protein product		604268	EGF-like-domain, multiple 5	EGFL5	NA	9693030	Standard	NM_001080497	NM_001080497	NA	Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.916C>T	9.37:g.123384921G>A	ENSP00000363040:p.Arg306Trp	NA	B7Z315|O75098	37	CCDS48010.2	.	.	.	.	.	.	.	.	.	.	G	29.4	5.004313	0.93287	.	.	ENSG00000106780	ENST00000373930;ENST00000426959	T;T	0.63913	-0.07;-0.07	5.99	5.99	0.97316	.	0.135560	0.49916	D	0.000131	T	0.79161	0.4399	M	0.71871	2.18	0.45634	D	0.998565	D	0.89917	1.0	D	0.74348	0.983	T	0.78947	-0.2003	10	0.59425	D	0.04	-3.4395	18.6582	0.91462	0.0:0.0:1.0:0.0	.	343	C9J1K8	.	W	306;343	ENSP00000363040:R306W;ENSP00000392666:R343W	ENSP00000363040:R306W	R	-	1	2	MEGF9	122424742	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	4.816000	0.62642	2.840000	0.97914	0.655000	0.94253	CGG	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055513.1		-	ENST00000373930.3	Missense_Mutation	SNP	9 : 123384921 - 123384921 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	243	32
ALPK2	115701	broad.mit.edu	37	18	56184276	56184276	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56184276C>T	ENST00000361673.3	-	9	6017	c.5804G>A	c.(5803-5805)cGc>cAc	p.R1935H		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1935	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CACTGTGCTGCGGAAGGCTTT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	132	139			NA	NA	18		NA											NA				56184276		2203	4300	6503	SO:0001583	missense			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796	115701	115701		Immunoglobulin superfamily / I-set domain containing	20565	protein-coding gene	gene with protein product	heart alpha-kinase				NA	10021370	Standard	NM_052947	NM_052947	NA	Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.5804G>A	18.37:g.56184276C>T	ENSP00000354991:p.Arg1935His	NA	Q6ZUX0|Q8NAT5|Q96L95	37	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873107	0.91664	.	.	ENSG00000198796	ENST00000361673	T	0.15372	2.43	5.75	5.75	0.90469	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.000000	0.64402	D	0.000003	T	0.41743	0.1172	L	0.56769	1.78	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	T	0.07271	-1.0781	10	0.59425	D	0.04	-17.7765	19.5549	0.95342	0.0:1.0:0.0:0.0	.	1935	Q86TB3	ALPK2_HUMAN	H	1935	ENSP00000354991:R1935H	ENSP00000354991:R1935H	R	-	2	0	ALPK2	54335256	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	7.385000	0.79763	2.716000	0.92895	0.655000	0.94253	CGC	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256126.1		-	ENST00000361673.3	Missense_Mutation	SNP	18 : 56184276 - 56184276 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	564	54
DOCK8	81704	broad.mit.edu	37	9	372257	372257	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:372257C>T	ENST00000469391.1	+	17	1955	c.1876C>T	c.(1876-1878)Cca>Tca	p.P626S	DOCK8_ENST00000432829.2_Missense_Mutation_p.P626S|DOCK8_ENST00000382331.1_5'UTR|DOCK8_ENST00000382329.1_Missense_Mutation_p.P161S|DOCK8_ENST00000453981.1_Missense_Mutation_p.P694S	NM_001190458.1|NM_001193536.1	NP_001177387.1|NP_001180465.1	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	694					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGAAAAATTGCCACCCAACTA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	111	115			NA	NA	9		NA											NA				372257		2203	4300	6503	SO:0001583	missense			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099	81704	81704			19191	protein-coding gene	gene with protein product		611432			NA	11214971	Standard	XM_036307	NM_203447	NA	Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000469391.1:c.1876C>T	9.37:g.372257C>T	ENSP00000419438:p.Pro626Ser	NA	A2A350|A2BDF2|A4FU78|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	37	CCDS55284.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948470	0.92593	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.42653	0.1212	M	0.78223	2.4	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.996;1.0	T	0.24261	-1.0165	10	0.72032	D	0.01	.	20.0442	0.97604	0.0:1.0:0.0:0.0	.	626;161;694	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	S	694;694;626;626;161	ENSP00000408464:P694S;ENSP00000394888:P626S;ENSP00000419438:P626S;ENSP00000371766:P161S	ENSP00000287364:P694S	P	+	1	0	DOCK8	362257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.329000	0.79170	2.814000	0.96858	0.655000	0.94253	CCA	DOCK8-012	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354646.1		+	ENST00000469391.1	Missense_Mutation	SNP	9 : 372257 - 372257 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	456	70
L3MBTL4	91133	broad.mit.edu	37	18	6263998	6263998	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6263998C>T	ENST00000400104.3	-	5	367	c.167G>A	c.(166-168)tGg>tAg	p.W56*	L3MBTL4_ENST00000317931.7_Nonsense_Mutation_p.W56*|L3MBTL4_ENST00000284898.6_Nonsense_Mutation_p.W56*|L3MBTL4_ENST00000400105.2_Nonsense_Mutation_p.W56*			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	56					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TTTCAAGTACCACTCCCAAGA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(41;748 902 17366 28959 43175)							NA				0													86	88	88			NA	NA	18		NA											NA				6263998		2203	4300	6503	SO:0001587	stop_gained			BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655	91133	91133		Sterile alpha motif (SAM) domain containing	26677	protein-coding gene	gene with protein product					NA	14702039	Standard	NM_173464	NM_173464	NA	Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000400104.3:c.167G>A	18.37:g.6263998C>T	ENSP00000382975:p.Trp56*	NA	A8MTL8|Q8IXS3	37		.	.	.	.	.	.	.	.	.	.	C	37	6.274849	0.97435	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000400104	.	.	.	5.04	2.67	0.31697	.	0.187021	0.34676	N	0.003775	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	7.4813	0.27406	0.0:0.1287:0.0:0.8713	.	.	.	.	X	56	.	ENSP00000284898:W56X	W	-	2	0	L3MBTL4	6253998	0.293000	0.24371	1.000000	0.80357	0.974000	0.67602	0.304000	0.19228	0.360000	0.24265	-0.142000	0.14014	TGG	L3MBTL4-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000254447.1		-	ENST00000400104.3	Nonsense_Mutation	SNP	18 : 6263998 - 6263998 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	360	48
CLTCL1	8218	broad.mit.edu	37	22	19226854	19226854	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19226854C>T	ENST00000263200.10	-	5	811	c.739G>A	c.(739-741)Gca>Aca	p.A247T	CLTCL1_ENST00000353891.5_Missense_Mutation_p.A247T|CLTCL1_ENST00000427926.1_Missense_Mutation_p.A247T	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	247	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ACATCTACTGCTTTCTTTACA	0.443		NA	T	?	ALCL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		22	22q11.21	8218	clathrin, heavy polypeptide-like 1		L	0													208	205	206			NA	NA	22		NA											NA				19226854		1900	4121	6021	SO:0001583	missense				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371	8218	8218			2093	protein-coding gene	gene with protein product		601273	clathrin, heavy polypeptide-like 1	CLTCL	NA	8844170, 15133132	Standard	NM_007098	NM_007098	NA	Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.739G>A	22.37:g.19226854C>T	ENSP00000445677:p.Ala247Thr	NA	B7Z7U5|Q14017|Q15808|Q15809	37	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.239292	0.39598	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.23147	1.92;1.92;1.92	3.91	1.72	0.24424	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.235741	0.34411	N	0.003991	T	0.21590	0.0520	L	0.49571	1.57	0.58432	D	0.999993	B;B	0.12013	0.002;0.005	B;B	0.22880	0.035;0.042	T	0.04885	-1.0920	10	0.34782	T	0.22	-3.3688	8.444	0.32830	0.0:0.7569:0.1558:0.0873	.	247;247	P53675-2;P53675	.;CLH2_HUMAN	T	247	ENSP00000439662:A247T;ENSP00000445677:A247T;ENSP00000441158:A247T	ENSP00000445677:A247T	A	-	1	0	CLTCL1	17606854	1.000000	0.71417	0.914000	0.36105	0.626000	0.37791	4.046000	0.57376	0.286000	0.22352	0.591000	0.81541	GCA	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316397.5		-	ENST00000263200.10	Missense_Mutation	SNP	22 : 19226854 - 19226854 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	871	178
VCL	7414	broad.mit.edu	37	10	75863594	75863594	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75863594G>A	ENST00000372755.3	+	15	2133	c.2039G>A	c.(2038-2040)cGt>cAt	p.R680H	VCL_ENST00000211998.4_Missense_Mutation_p.R680H|VCL_ENST00000417648.2_Intron|VCL_ENST00000478896.2_3'UTR	NM_003373.3	NP_003364.1	P18206	VINC_HUMAN	vinculin	680	N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					TCGGCTGCTCGTATCTTACTT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													186	148	161			NA	NA	10		NA											NA				75863594		2203	4300	6503	SO:0001583	missense			M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403	7414	7414			12665	protein-coding gene	gene with protein product	metavinculin	193065			NA	1339348	Standard	NM_003373, NM_014000	NM_014000	NA	Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000372755.3:c.2039G>A	10.37:g.75863594G>A	ENSP00000361841:p.Arg680His	NA	Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	37	CCDS7340.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592370	0.86953	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043;ENST00000436396	T;T;T	0.41400	1.0;1.0;1.0	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.66538	0.2799	M	0.69823	2.125	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;P;D	0.80764	0.96;0.797;0.994	T	0.65557	-0.6139	10	0.56958	D	0.05	.	20.2527	0.98410	0.0:0.0:1.0:0.0	.	607;680;680	F5H7T3;P18206-2;P18206	.;.;VINC_HUMAN	H	680;680;587;607;352	ENSP00000361841:R680H;ENSP00000211998:R680H;ENSP00000415489:R352H	ENSP00000211998:R680H	R	+	2	0	VCL	75533600	1.000000	0.71417	0.992000	0.48379	0.968000	0.65278	9.209000	0.95087	2.788000	0.95919	0.557000	0.71058	CGT	VCL-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048751.1		+	ENST00000372755.3	Missense_Mutation	SNP	10 : 75863594 - 75863594 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	620	115
LRRC37B	114659	broad.mit.edu	37	17	30376270	30376270	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30376270C>T	ENST00000543378.2	+	13	2622	c.2287C>T	c.(2287-2289)Cga>Tga	p.R763*	LRRC37B_ENST00000394713.3_Nonsense_Mutation_p.R794*|LRRC37B_ENST00000341671.7_Nonsense_Mutation_p.R845*|LRRC37B_ENST00000327564.7_Nonsense_Mutation_p.R872*|LRRC37B_ENST00000584368.1_Nonsense_Mutation_p.R806*			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	845						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				GCTCATGTTGCGAACAGGCCT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	70	73			NA	NA	17		NA											NA				30376270		2203	4298	6501	SO:0001587	stop_gained			AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158	114659	114659			29070	protein-coding gene	gene with protein product	KIAA0563-related				NA	11468690, 10843809	Standard	NM_052888	NM_052888	NA	Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000543378.2:c.2287C>T	17.37:g.30376270C>T	ENSP00000443345:p.Arg763*	NA	Q5YKG6	37		.	.	.	.	.	.	.	.	.	.	N	8.578	0.881682	0.17467	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	.	.	.	1.78	-2.18	0.07037	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	0.1537	0.00096	0.3506:0.2442:0.1678:0.2374	.	.	.	.	X	763;872;794;845	.	ENSP00000332536:R872X	R	+	1	2	LRRC37B	27400383	0.005000	0.15991	0.006000	0.13384	0.000000	0.00434	0.839000	0.27586	-0.642000	0.05480	-2.596000	0.00163	CGA	LRRC37B-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000446503.1		+	ENST00000543378.2	Nonsense_Mutation	SNP	17 : 30376270 - 30376270 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	76
UBE3B	89910	broad.mit.edu	37	12	109967770	109967770	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109967770C>T	ENST00000342494.3	+	25	3298	c.2703C>T	c.(2701-2703)agC>agT	p.S901S	UBE3B_ENST00000535089.1_5'UTR|UBE3B_ENST00000434735.2_Silent_p.S901S	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	901	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CCCTCATTAGCGGATTCCGTT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	157	165			NA	NA	12		NA											NA				109967770		2203	4300	6503	SO:0001819	synonymous_variant			BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148	89910	89910			13478	protein-coding gene	gene with protein product		608047			NA		Standard	NM_183415	NM_130466	NA	Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.2703C>T	12.37:g.109967770C>T		NA	A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	37	CCDS9129.1																																																																																			UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403119.1		+	ENST00000342494.3	Silent	SNP	12 : 109967770 - 109967770 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	711	175
PTPRS	5802	broad.mit.edu	37	19	5244425	5244425	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5244425C>T	ENST00000587303.1	-	10	1156	c.1057G>A	c.(1057-1059)Gac>Aac	p.D353N	PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000592099.1_Missense_Mutation_p.D340N|PTPRS_ENST00000353284.2_Missense_Mutation_p.D340N|PTPRS_ENST00000262963.6_Missense_Mutation_p.D349N|PTPRS_ENST00000348075.2_Missense_Mutation_p.D340N|PTPRS_ENST00000588012.1_Missense_Mutation_p.D340N|PTPRS_ENST00000372412.4_Missense_Mutation_p.D354N|PTPRS_ENST00000357368.4_Missense_Mutation_p.D353N			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	353	Fibronectin type-III 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TTGCCCGAGTCCCACGTGATG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	116	119			NA	NA	19		NA											NA				5244425		2203	4300	6503	SO:0001583	missense			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426	5802	5802		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	9681	protein-coding gene	gene with protein product		601576			NA	8954782, 8524829	Standard		NM_002850	NA	Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.1057G>A	19.37:g.5244425C>T	ENSP00000467537:p.Asp353Asn	NA	O75255|O75870|Q15718|Q16341|Q2M3R7	37	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887699	0.91814	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41	3.87	3.87	0.44632	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000002	T	0.67692	0.2920	L	0.54323	1.7	0.32005	N	0.602871	D;P;D;D;D;D	0.89917	0.991;0.865;0.981;0.999;1.0;0.959	P;B;P;D;D;P	0.91635	0.763;0.425;0.763;0.973;0.999;0.721	T	0.74665	-0.3589	10	0.62326	D	0.03	.	16.0207	0.80486	0.0:1.0:0.0:0.0	.	353;340;344;340;353;366	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	N	366;354;353;353;353;349;340;353;344;340	ENSP00000361489:D354N;ENSP00000349932:D353N;ENSP00000262963:D349N;ENSP00000269907:D340N;ENSP00000327313:D340N	ENSP00000262963:D349N	D	-	1	0	PTPRS	5195425	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.545000	0.82128	2.018000	0.59344	0.561000	0.74099	GAC	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450762.2		-	ENST00000587303.1	Missense_Mutation	SNP	19 : 5244425 - 5244425 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	380	73
TRA2A	29896	broad.mit.edu	37	7	23556038	23556038	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23556038G>A	ENST00000297071.4	-	3	496	c.280C>T	c.(280-282)Cga>Tga	p.R94*	TRA2A_ENST00000392502.4_5'UTR|TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000474586.1_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	94	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						CGGCTCCTTCGCCGCCGGTAT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(121;2137 2973 46590)							NA				0													83	71	75			NA	NA	7		NA											NA				23556038		2203	4300	6503	SO:0001587	stop_gained			U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548	29896	29896		RNA binding motif (RRM) containing	16645	protein-coding gene	gene with protein product		602718			NA	8799144, 9546399	Standard	NM_013293	XM_005249725	NA	Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.280C>T	7.37:g.23556038G>A	ENSP00000297071:p.Arg94*	NA		37	CCDS5383.1	.	.	.	.	.	.	.	.	.	.	G	35	5.468558	0.96274	.	.	ENSG00000164548	ENST00000297071	.	.	.	5.88	4.0	0.46444	.	0.058669	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.982	15.5939	0.76562	0.0:0.0:0.7503:0.2497	.	.	.	.	X	94	.	ENSP00000297071:R94X	R	-	1	2	TRA2A	23522563	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.180000	0.50895	1.484000	0.48361	0.460000	0.39030	CGA	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250257.1		-	ENST00000297071.4	Nonsense_Mutation	SNP	7 : 23556038 - 23556038 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	301	71
MUC3A	4584	broad.mit.edu	37	7	100551363	100551363	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100551363G>T	ENST00000319509.7	+	1	114	c.114G>T	c.(112-114)ccG>ccT	p.P38P						mucin 3A, cell surface associated	NA										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CAGACATCCCGACCACAAGCC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	147	149			NA	NA	7		NA											NA				100551363		876	1991	2867	SO:0001819	synonymous_variant			AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894	4584	4584		Mucins	7513	protein-coding gene	gene with protein product		158371	mucin 3A, intestinal	MUC3	NA	2393399, 10973822	Standard	XM_001725354	XM_006710192	NA	Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.114G>T	7.37:g.100551363G>T		NA		37																																																																																				MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000347215.1		+	ENST00000319509.7	Silent	SNP	7 : 100551363 - 100551363 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	652	106
EFCAB5	374786	broad.mit.edu	37	17	28417522	28417522	+	Missense_Mutation	SNP	G	G	A	rs146481233	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28417522G>A	ENST00000394835.3	+	20	3959	c.3767G>A	c.(3766-3768)cGt>cAt	p.R1256H	RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Missense_Mutation_p.R1132H	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1256							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GTTCCACTTCGTGAGAGAACA	0.393		NA											G	2	9e-04	NA	NA	2184	NA	0.9996	,	,	NA	3e-04	0.0026	NA	NA	8e-04	0.8255	LOWCOV	NA	NA	5e-04	SNP								NA				0													126	123	124			NA	NA	17		NA											NA				28417522		1852	4094	5946	SO:0001583	missense			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927	374786	374786		EF-hand domain containing	24801	protein-coding gene	gene with protein product					NA		Standard	NM_198529	NM_198529	NA	Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.3767G>A	17.37:g.28417522G>A	ENSP00000378312:p.Arg1256His	NA	B2RPN0|Q0VD68|Q6ZRM6|Q8NDG9	37	CCDS11254.2	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	16.93	3.258665	0.59321	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000419434	T;T;T	0.24538	1.85;1.92;1.91	5.45	5.45	0.79879	.	0.000000	0.52532	D	0.000071	T	0.46328	0.1387	M	0.74258	2.255	0.80722	D	1	D;D	0.67145	0.996;0.996	P;P	0.59643	0.861;0.861	T	0.41910	-0.9482	10	0.51188	T	0.08	-12.5922	13.5817	0.61907	0.0768:0.0:0.9232:0.0	.	1132;1256	E7EVS9;A4FU69	.;EFCB5_HUMAN	H	1256;1132;938	ENSP00000378312:R1256H;ENSP00000322003:R1132H;ENSP00000417009:R938H	ENSP00000322003:R1132H	R	+	2	0	EFCAB5	25441648	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.360000	0.59455	2.535000	0.85469	0.655000	0.94253	CGT	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256120.4		+	ENST00000394835.3	Missense_Mutation	SNP	17 : 28417522 - 28417522 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	592	128
LRIT1	26103	broad.mit.edu	37	10	85997326	85997326	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85997326C>A	ENST00000372105.3	-	2	260	c.239G>T	c.(238-240)aGg>aTg	p.R80M		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	80						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GCCCAGGGGCCTGAAGGCCTC	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	MET/ARG	0,4298		0,0,2149	17	21	20		239	-0.9	0	10		20	1,8437		0,1,4218	no	missense	LRIT1	NM_015613.2	91	0,1,6367	AA,AC,CC	NA	0.0119,0.0,0.0079	benign	80/624	85997326	1,12735	2149	4219	6368	SO:0001583	missense			AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602	26103	26103		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	23404	protein-coding gene	gene with protein product	fibronectin type III, immunoglobulin and leucine rich repeat domains 9		leucine rich repeat containing 21	LRRC21	NA	10777785	Standard	NM_015613	NM_015613	NA	Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.239G>T	10.37:g.85997326C>A	ENSP00000361177:p.Arg80Met	NA	Q9Y4N7	37	CCDS7373.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086511	0.36855	0.0	1.19E-4	ENSG00000148602	ENST00000372105	T	0.52983	0.64	5.42	-0.953	0.10362	.	1.510790	0.03923	N	0.283947	T	0.42471	0.1204	M	0.73319	2.225	0.09310	N	1	P	0.37101	0.582	B	0.37198	0.243	T	0.23726	-1.0180	10	0.33141	T	0.24	.	0.1121	0.00057	0.3439:0.22:0.1707:0.2655	.	80	Q9P2V4	LRIT1_HUMAN	M	80	ENSP00000361177:R80M	ENSP00000361177:R80M	R	-	2	0	LRIT1	85987306	0.000000	0.05858	0.000000	0.03702	0.969000	0.65631	0.770000	0.26618	-0.040000	0.13580	0.650000	0.86243	AGG	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049109.1		-	ENST00000372105.3	Missense_Mutation	SNP	10 : 85997326 - 85997326 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	44
CCDC42	146849	broad.mit.edu	37	17	8638779	8638779	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8638779G>T	ENST00000293845.3	-	5	869	c.643C>A	c.(643-645)Ctg>Atg	p.L215M	CCDC42_ENST00000539522.2_Intron	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	215				Missing (in Ref. 2; AAH29224).						kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						TTTTGCTGCAGGATCTCATCA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	66	68			NA	NA	17		NA											NA				8638779		2203	4300	6503	SO:0001583	missense			AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973	146849	146849			26528	protein-coding gene	gene with protein product					NA		Standard	NM_144681	NM_144681	NA	Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.643C>A	17.37:g.8638779G>T	ENSP00000293845:p.Leu215Met	NA	Q8N6Q0	37	CCDS11145.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658038	0.67586	.	.	ENSG00000161973	ENST00000293845	T	0.36878	1.23	5.52	4.55	0.56014	.	0.000000	0.47455	D	0.000231	T	0.52041	0.1710	L	0.46670	1.46	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.53927	-0.8369	10	0.62326	D	0.03	-25.5596	13.1418	0.59438	0.0773:0.0:0.9227:0.0	.	215	Q96M95	CCD42_HUMAN	M	215	ENSP00000293845:L215M	ENSP00000293845:L215M	L	-	1	2	CCDC42	8579504	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.336000	0.59304	1.571000	0.49722	0.563000	0.77884	CTG	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442491.1		-	ENST00000293845.3	Missense_Mutation	SNP	17 : 8638779 - 8638779 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	441	64
FAM107B	83641	broad.mit.edu	37	10	14816459	14816459	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:14816459G>A	ENST00000181796.2	-	1	437	c.204C>T	c.(202-204)agC>agT	p.S68S		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTCCTTCTGCGCTTGGGTGTC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	119	123			NA	NA	10		NA											NA				14816459		2203	4300	6503	SO:0001819	synonymous_variant			AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809	83641	83641			23726	protein-coding gene	gene with protein product			chromosome 10 open reading frame 45	C10orf45	NA	11230166	Standard	NM_031453	XM_005252616	NA	Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000181796.2:c.204C>T	10.37:g.14816459G>A		NA	A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	37	CCDS7102.1																																																																																			FAM107B-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356966.1		-	ENST00000181796.2	Silent	SNP	10 : 14816459 - 14816459 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	706	180
TGM4	7047	broad.mit.edu	37	3	44929289	44929289	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44929289T>C	ENST00000296125.4	+	3	368		c.e3+2			NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	NA					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GGCAAAGAGGTGAGCACCCAC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	57	59			NA	NA	3		NA											NA				44929289		2203	4300	6503	SO:0001630	splice_region_variant			BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	7047	7047	2.3.2.13	Transglutaminases	11780	protein-coding gene	gene with protein product		600585	transglutaminase 4 (prostate)		NA	7665178, 7916568	Standard	NM_003241	NM_003241	NA	Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.300+2T>C	3.37:g.44929289T>C		NA	Q16707|Q96QN4	37	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	T	6.390	0.440020	0.12104	.	.	ENSG00000163810	ENST00000296125	.	.	.	1.43	0.123	0.14709	.	.	.	.	.	.	.	.	.	.	.	0.23210	N	0.99811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.2294	0.10596	0.0:0.0:0.3643:0.6357	.	.	.	.	.	-1	.	.	.	+	.	.	TGM4	44904293	0.905000	0.30787	0.120000	0.21714	0.050000	0.14768	0.458000	0.21892	0.024000	0.15214	0.383000	0.25322	.	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256755.2	Intron	+	ENST00000296125.4	Splice_Site	SNP	3 : 44929289 - 44929289 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	205	43
ASMT	438	broad.mit.edu	37	X	1746651	1746651	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:1746651A>C	ENST00000381241.3	+	4	629	c.430A>C	c.(430-432)Acg>Ccg	p.T144P	ASMT_ENST00000509780.1_3'UTR|ASMT_ENST00000381233.3_Missense_Mutation_p.T144P|ASMT_ENST00000381229.4_Missense_Mutation_p.T144P	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	144					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGAGCTTTTTACGGCCATCTA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													269	254	259			NA	NA	X		NA											NA				1746651		2203	4296	6499	SO:0001583	missense			M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	438	438	2.1.1.4	Pseudoautosomal regions / PAR1	750	protein-coding gene	gene with protein product		300015, 402500			NA	8397829, 7989373	Standard	NM_004043	NM_004043	NA	Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381241.3:c.430A>C	X.37:g.1746651A>C	ENSP00000370639:p.Thr144Pro	NA	B2RC33|Q16598|Q5JQ72|Q5JQ73	37	CCDS14117.1	.	.	.	.	.	.	.	.	.	.	N	5.564	0.288915	0.10513	.	.	ENSG00000196433	ENST00000381241;ENST00000381229;ENST00000381233	T;T;T	0.18016	2.24;2.24;2.24	1.48	-0.465	0.12157	.	1.013810	0.07922	U	0.976093	T	0.16811	0.0404	L	0.54323	1.7	0.09310	N	0.999999	P;P	0.40250	0.49;0.709	B;B	0.41236	0.124;0.351	T	0.29119	-1.0022	10	0.46703	T	0.11	.	4.4792	0.11759	0.489:0.0:0.511:0.0	.	144;144	P46597-2;P46597-3	.;.	P	144	ENSP00000370639:T144P;ENSP00000370627:T144P;ENSP00000370631:T144P	ENSP00000370627:T144P	T	+	1	0	ASMT	1706651	0.011000	0.17503	0.006000	0.13384	0.106000	0.19336	0.774000	0.26675	0.399000	0.25367	0.206000	0.17768	ACG	ASMT-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055611.1		+	ENST00000381241.3	Missense_Mutation	SNP	X : 1746651 - 1746651 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	718	234
ADAMTSL1	92949	broad.mit.edu	37	9	18777494	18777494	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:18777494C>T	ENST00000380548.4	+	19	3606	c.3267C>T	c.(3265-3267)ccC>ccT	p.P1089P		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1089						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCCAGCAGCCCGAGGAGCTGC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	18	16			NA	NA	9		NA											NA				18777494		2075	4189	6264	SO:0001819	synonymous_variant			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031	92949	92949		Immunoglobulin superfamily / I-set domain containing	14632	protein-coding gene	gene with protein product	punctin	609198	chromosome 9 open reading frame 94	C9orf94	NA	9628581, 11805097	Standard		NM_001040272	NA	Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.3267C>T	9.37:g.18777494C>T		NA	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	37	CCDS47954.1																																																																																			ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401206.1		+	ENST00000380548.4	Silent	SNP	9 : 18777494 - 18777494 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	58	12
EBF3	253738	broad.mit.edu	37	10	131666130	131666130	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:131666130C>T	ENST00000368648.3	-	9	873	c.801G>A	c.(799-801)acG>acA	p.T267T	EBF3_ENST00000355311.5_Silent_p.T276T	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	276	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TGGCACCCCCCGTGGTCCAGC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	91	98			NA	NA	10		NA											NA				131666130		2203	4300	6503	SO:0001819	synonymous_variant				CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001	253738	253738			19087	protein-coding gene	gene with protein product		607407			NA	12355068	Standard	NM_001005463	NM_001005463	NA	Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000368648.3:c.801G>A	10.37:g.131666130C>T		NA	A0AUY1|Q5T6H9|Q9H4W5	37	CCDS31314.1																																																																																			EBF3-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051016.1		-	ENST00000368648.3	Silent	SNP	10 : 131666130 - 131666130 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	373	67
ZNF471	57573	broad.mit.edu	37	19	57036219	57036219	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57036219C>A	ENST00000591537.1	+	5	488	c.362C>A	c.(361-363)tCt>tAt	p.S121Y	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000308031.5_Silent_p.L261L			Q9BX82	ZN471_HUMAN	zinc finger protein 471	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GAGAGAAACTCTTTGAATGTA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)							NA				0													98	109	106			NA	NA	19		NA											NA				57036219		2203	4300	6503	SO:0001583	missense			AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263	57573	57573		Zinc fingers, C2H2-type, -	23226	protein-coding gene	gene with protein product					NA	10718198	Standard	NM_020813	NM_020813	NA	Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000591537.1:c.362C>A	19.37:g.57036219C>A	ENSP00000466224:p.Ser121Tyr	NA	O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	37																																																																																				ZNF471-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000458406.1		+	ENST00000591537.1	Missense_Mutation	SNP	19 : 57036219 - 57036219 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	681	51
SMYD1	150572	broad.mit.edu	37	2	88405903	88405903	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88405903C>T	ENST00000444564.2	+	7	1042	c.1002C>T	c.(1000-1002)aaC>aaT	p.N334N	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000419482.2_Silent_p.N347N			Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						CTGACACCAACATCTACATGC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													182	137	152			NA	NA	2		NA											NA				88405903		2203	4300	6503	SO:0001819	synonymous_variant			AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593	150572	150572		Zinc fingers, MYND-type, Chromatin-modifying enzymes / K-methyltransferases	20986	protein-coding gene	gene with protein product		606846			NA	11923873	Standard	XM_097915	NM_198274	NA	Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000444564.2:c.1002C>T	2.37:g.88405903C>T		NA	A0AV30|A6NE13	37																																																																																				SMYD1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000338230.2		+	ENST00000444564.2	Silent	SNP	2 : 88405903 - 88405903 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	306	46
JAK3	3718	broad.mit.edu	37	19	17943451	17943451	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17943451C>T	ENST00000527670.1	-	18	2586	c.2557G>A	c.(2557-2559)Gcc>Acc	p.A853T	JAK3_ENST00000458235.1_Missense_Mutation_p.A853T|JAK3_ENST00000534444.1_Missense_Mutation_p.A853T			P52333	JAK3_HUMAN	Janus kinase 3	853	Protein kinase 2.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						TGTTTCACGGCCACCAGGGCA	0.582		2	Mis		acute megakaryocytic leukemia, ETP ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0													81	71	75			NA	NA	19		NA											NA				17943451		2203	4300	6503	SO:0001583	missense			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	3718	3718	2.7.10.1		6193	protein-coding gene	gene with protein product	tyrosine-protein kinase JAK3, leukocyte Janus kinase	600173			NA	8921370, 9226382	Standard	NM_000215	NM_000215	NA	Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.2557G>A	19.37:g.17943451C>T	ENSP00000432511:p.Ala853Thr	NA	Q13259|Q13260|Q13611|Q99699|Q9Y6S2	37	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	C	31	5.066950	0.93898	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	T;T;D	0.95885	-1.38;-1.38;-3.84	4.37	4.37	0.52481	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.060550	0.64402	D	0.000004	D	0.98124	0.9381	M	0.94063	3.49	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.74023	0.982;0.92	D	0.98936	1.0789	10	0.87932	D	0	-19.9877	14.7749	0.69724	0.0:1.0:0.0:0.0	.	853;853	P52333-2;P52333	.;JAK3_HUMAN	T	853	ENSP00000391676:A853T;ENSP00000432511:A853T;ENSP00000436421:A853T	ENSP00000391676:A853T	A	-	1	0	JAK3	17804451	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.165000	0.77544	2.433000	0.82419	0.549000	0.68633	GCC	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385549.1		-	ENST00000527670.1	Missense_Mutation	SNP	19 : 17943451 - 17943451 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	453	115
PDZRN3	23024	broad.mit.edu	37	3	73434832	73434832	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:73434832G>A	ENST00000479530.1	-	7	970	c.774C>T	c.(772-774)agC>agT	p.S258S	PDZRN3_ENST00000535920.1_Silent_p.S263S|PDZRN3_ENST00000466780.1_Silent_p.S198S|PDZRN3_ENST00000263666.4_Silent_p.S541S|PDZRN3_ENST00000462146.2_Silent_p.S198S			Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	541	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GCTGCAGCACGCTAGCTGTGA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													195	146	162			NA	NA	3		NA											NA				73434832		2203	4300	6503	SO:0001819	synonymous_variant			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440	23024	23024		RING-type (C3HC4) zinc fingers	17704	protein-coding gene	gene with protein product	likely ortholog of mouse semaF cytoplasmic domain associated protein 3	609729			NA	10470851	Standard	XM_041363	XM_005264718	NA	Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000479530.1:c.774C>T	3.37:g.73434832G>A		NA	A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	37		.	.	.	.	.	.	.	.	.	.	G	4.499	0.092566	0.08632	.	.	ENSG00000121440	ENST00000494559	.	.	.	5.58	-1.85	0.07784	.	.	.	.	.	T	0.57286	0.2043	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51733	-0.8668	4	.	.	.	.	11.2905	0.49247	0.4454:0.0:0.5546:0.0	.	.	.	.	V	138	.	.	A	-	2	0	PDZRN3	73517522	1.000000	0.71417	0.028000	0.17463	0.442000	0.32017	0.853000	0.27777	-0.792000	0.04480	-0.812000	0.03155	GCG	PDZRN3-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000352465.1		-	ENST00000479530.1	Silent	SNP	3 : 73434832 - 73434832 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	502	21
DCHS2	54798	broad.mit.edu	37	4	155253943	155253943	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155253943C>T	ENST00000357232.4	-	9	1919	c.1920G>A	c.(1918-1920)acG>acA	p.T640T	DCHS2_ENST00000339452.1_Silent_p.T1139T	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	NA	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AAATCCAGCCCGTGTAAGGGC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	53	52			NA	NA	4		NA											NA				155253943		2203	4300	6503	SO:0001819	synonymous_variant			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410	54798	54798		Cadherins / Cadherin-related	23111	protein-coding gene	gene with protein product	cadherin-related family member 7	612486	cadherin-like 27, dachsous 2 (Drosophila)	CDH27, PCDH23	NA	15003449	Standard	NM_001142552	NM_017639	NA	Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1920G>A	4.37:g.155253943C>T		NA	Q4W5P9|Q6ZS61|Q9NXU8	37	CCDS3785.1																																																																																			DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365281.2		-	ENST00000357232.4	Silent	SNP	4 : 155253943 - 155253943 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	262	69
RBPJ	3516	broad.mit.edu	37	4	26430396	26430396	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26430396T>G	ENST00000504907.1	+	8	975	c.799T>G	c.(799-801)Tca>Gca	p.S267A	RBPJ_ENST00000361572.6_Missense_Mutation_p.S281A|RBPJ_ENST00000342295.1_Missense_Mutation_p.S281A|RBPJ_ENST00000345843.3_Missense_Mutation_p.S266A|RBPJ_ENST00000355476.3_Missense_Mutation_p.S267A|RBPJ_ENST00000507561.1_Missense_Mutation_p.S246A|RBPJ_ENST00000348160.4_Missense_Mutation_p.S268A|RBPJ_ENST00000342320.4_Missense_Mutation_p.S267A			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	281					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TGATCCTGTGTCACAACTCCA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	62	61			NA	NA	4		NA											NA				26430396		2203	4297	6500	SO:0001583	missense			L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214	3516	3516			5724	protein-coding gene	gene with protein product	suppressor of hairless homolog (Drosophila)	147183	recombining binding protein suppressor of hairless (Drosophila)	IGKJRB1, RBPSUH	NA	8406481, 9290259	Standard	NM_015874	NM_005349	NA	Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000504907.1:c.799T>G	4.37:g.26430396T>G	ENSP00000423703:p.Ser267Ala	NA	Q5XKH9|Q6P1N3	37		.	.	.	.	.	.	.	.	.	.	T	25.3	4.623780	0.87460	.	.	ENSG00000168214	ENST00000345843;ENST00000342295;ENST00000361572;ENST00000348160;ENST00000355476;ENST00000507561;ENST00000504907;ENST00000342320;ENST00000504423	T;T;T;T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16	5.51	5.51	0.81932	Beta-trefoil (2);	0.000000	0.85682	D	0.000000	T	0.61286	0.2335	M	0.76433	2.335	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.91635	0.999;0.999;0.993;0.989;0.989;0.993	T	0.65952	-0.6043	10	0.87932	D	0	-14.0998	15.6036	0.76646	0.0:0.0:0.0:1.0	.	281;267;268;267;266;281	B7Z8D8;D6R927;B4DY22;Q06330-6;Q06330-4;Q06330	.;.;.;.;.;SUH_HUMAN	A	266;281;281;268;267;246;267;267;19	ENSP00000305815:S266A;ENSP00000345206:S281A;ENSP00000354528:S281A;ENSP00000339699:S268A;ENSP00000347659:S267A;ENSP00000423907:S246A;ENSP00000423703:S267A;ENSP00000340124:S267A;ENSP00000421804:S19A	ENSP00000345206:S281A	S	+	1	0	RBPJ	26039494	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.665000	0.83852	2.100000	0.63781	0.533000	0.62120	TCA	RBPJ-010	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000360124.1		+	ENST00000504907.1	Missense_Mutation	SNP	4 : 26430396 - 26430396 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	197	41
TTN	7273	broad.mit.edu	37	2	179613691	179613691	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179613691C>T	ENST00000589042.1	-	47	11536				TTN_ENST00000360870.5_Missense_Mutation_p.R4479K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	NA							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTGATGTTCTGGTAGGTCT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	89	88			NA	NA	2		NA											NA				179613691		2203	4297	6500	SO:0001627	intron_variant			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.11311+4159G>A	2.37:g.179613691C>T		NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	1.645	-0.515402	0.04200	.	.	ENSG00000155657	ENST00000360870	T	0.54279	0.58	6.04	-0.195	0.13236	.	.	.	.	.	T	0.24774	0.0601	N	0.04508	-0.205	0.19575	N	0.999964	B	0.02656	0.0	B	0.04013	0.001	T	0.22103	-1.0226	9	0.02654	T	1	.	12.2414	0.54544	0.0:0.2961:0.0:0.7039	.	4479	Q8WZ42-6	.	K	4479	ENSP00000354117:R4479K	ENSP00000354117:R4479K	R	-	2	0	TTN	179321936	0.068000	0.21057	0.269000	0.24586	0.141000	0.21300	0.383000	0.20651	-0.219000	0.10003	-0.251000	0.11542	AGA	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Intron	SNP	2 : 179613691 - 179613691 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	336	64
NTMT1	28989	broad.mit.edu	37	9	132395137	132395137	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132395137T>G	ENST00000372486.1	+	2	504	c.155T>G	c.(154-156)tTt>tGt	p.F52C	NTMT1_ENST00000482347.1_Intron|NTMT1_ENST00000486391.2_Intron|NTMT1_ENST00000372483.4_Missense_Mutation_p.F52C|NTMT1_ENST00000372481.3_Missense_Mutation_p.F52C|NTMT1_ENST00000372480.1_Missense_Mutation_p.F52C|NTMT1_ENST00000459968.2_Missense_Mutation_p.F52C					N-terminal Xaa-Pro-Lys N-methyltransferase 1	NA											NA						CTGCAGAGGTTTTTGAGGGTA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	115	116			NA	NA	9		NA											NA				132395137		2203	4300	6503	SO:0001583	missense			AF110776	CCDS35160.1, CCDS69682.1, CCDS75918.1	9q34.2	2012-11-05	2012-06-12	2012-06-12	ENSG00000148335	ENSG00000148335	28989	28989	2.1.1.n5		23373	protein-coding gene	gene with protein product		613560	chromosome 9 open reading frame 32, methyltransferase like 11A	C9orf32, METTL11A	NA	20481588	Standard	NM_014064	XM_005251939	NA	Approved	AD-003, HOMT1A	uc004byd.1	Q9BV86	OTTHUMG00000020785	ENST00000372486.1:c.155T>G	9.37:g.132395137T>G	ENSP00000361564:p.Phe52Cys	NA		37	CCDS35160.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.462484	0.84425	.	.	ENSG00000148335	ENST00000372486;ENST00000372483;ENST00000372481;ENST00000372480	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.53948	0.1828	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.60895	-0.7172	10	0.72032	D	0.01	-0.8808	13.8086	0.63248	0.0:0.0:0.0:1.0	.	52;52	Q9BV86-2;Q9BV86	.;NTM1A_HUMAN	C	52	ENSP00000361564:F52C;ENSP00000361561:F52C;ENSP00000361559:F52C;ENSP00000361558:F52C	ENSP00000361558:F52C	F	+	2	0	METTL11A	131434958	1.000000	0.71417	0.954000	0.39281	0.996000	0.88848	7.904000	0.87408	1.954000	0.56735	0.459000	0.35465	TTT	NTMT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054589.1		+	ENST00000372486.1	Missense_Mutation	SNP	9 : 132395137 - 132395137 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	733	141
EFCAB13	124989	broad.mit.edu	37	17	45481348	45481348	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45481348G>T	ENST00000331493.2	+	19	2533	c.2122G>T	c.(2122-2124)Gaa>Taa	p.E708*	EFCAB13_ENST00000517484.1_Nonsense_Mutation_p.E612*	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13	NA											NA						GTCACCTAAAGAAGAGGTAGA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	89	87			NA	NA	17		NA											NA				45481348		2203	4300	6503	SO:0001587	stop_gained			BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852	124989	124989		EF-hand domain containing	26864	protein-coding gene	gene with protein product			chromosome 17 open reading frame 57	C17orf57	NA		Standard	NM_152347	NM_152347	NA	Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.2122G>T	17.37:g.45481348G>T	ENSP00000332111:p.Glu708*	NA		37	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	G	38	6.920217	0.97936	.	.	ENSG00000178852	ENST00000331493;ENST00000517484	.	.	.	4.04	1.38	0.22167	.	0.891302	0.09597	N	0.780753	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-13.5919	6.5462	0.22406	0.2344:0.0:0.7656:0.0	.	.	.	.	X	708;612	.	ENSP00000332111:E708X	E	+	1	0	C17orf57	42836347	0.997000	0.39634	0.899000	0.35326	0.648000	0.38561	1.204000	0.32296	0.114000	0.18032	0.586000	0.80456	GAA	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380147.4		+	ENST00000331493.2	Nonsense_Mutation	SNP	17 : 45481348 - 45481348 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	477	94
ANKRD30A	91074	broad.mit.edu	37	10	37486234	37486234	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:37486234C>T	ENST00000374660.1	+	34	2928	c.2829C>T	c.(2827-2829)ttC>ttT	p.F943F	ANKRD30A_ENST00000602533.1_Silent_p.F824F|ANKRD30A_ENST00000361713.1_Silent_p.F824F			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	997						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.F824F(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CATCTGCCTTCGAGGTATTTA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	endometrium(1)											168	143	150			NA	NA	10		NA											NA				37486234		1802	4078	5880	SO:0001819	synonymous_variant			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513	91074	91074		Ankyrin repeat domain containing	17234	protein-coding gene	gene with protein product	breast cancer antigen NY-BR-1	610856			NA	11280766	Standard	NM_052997	NM_052997	NA	Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000374660.1:c.2829C>T	10.37:g.37486234C>T		NA	Q5W025	37																																																																																				ANKRD30A-002	PUTATIVE	NMD_exception|basic	protein_coding	NA	protein_coding	OTTHUMT00000047589.2		+	ENST00000374660.1	Silent	SNP	10 : 37486234 - 37486234 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	864	72
KCNH2	3757	broad.mit.edu	37	7	150648842	150648842	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150648842C>T	ENST00000262186.5	-	7	2040	c.1639G>A	c.(1639-1641)Gcg>Acg	p.A547T	KCNH2_ENST00000430723.3_Missense_Mutation_p.A547T|KCNH2_ENST00000330883.4_Missense_Mutation_p.A207T|KCNH2_ENST00000392968.2_Missense_Mutation_p.A451T	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	547					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	p.A547T(1)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	AGCACGGCCGCGCCGTACTCT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(137;110 1844 13671 20123 45161)							NA				1	Substitution - Missense(1)	large_intestine(1)						C	THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	60	51	54		1639,619,1639,619	4.1	1	7		54	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	KCNH2	NM_000238.3,NM_001204798.1,NM_172056.2,NM_172057.2	58,58,58,58	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	547/1160,207/549,547/889,207/820	150648842	1,13005	2203	4300	6503	SO:0001583	missense			U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118	3757	3757		Potassium channels, Voltage-gated ion channels / Potassium channels	6251	protein-coding gene	gene with protein product		152427		LQT2	NA	18616963, 7842012, 8159766, 16382104	Standard	NM_000238	NM_000238	NA	Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1639G>A	7.37:g.150648842C>T	ENSP00000262186:p.Ala547Thr	NA	A5H1P7|D3DX04|O75418|O75680|Q9BT72|Q9BUT7|Q9H3P0	37	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678089	0.68042	0.0	1.16E-4	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186;ENST00000350328;ENST00000430723	D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98	4.08	4.08	0.47627	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98330	0.9446	L	0.55017	1.72	0.54753	D	0.999987	D;D;P;D;P	0.89917	1.0;1.0;0.665;0.976;0.607	D;D;B;P;B	0.85130	0.997;0.995;0.255;0.782;0.23	D	0.99032	1.0821	10	0.87932	D	0	.	13.8392	0.63428	0.0:1.0:0.0:0.0	.	451;547;207;547;207	C4PFH9;G5E9I0;Q708S9;Q12809;Q12809-2	.;.;.;KCNH2_HUMAN;.	T	207;451;547;207;547	ENSP00000328531:A207T;ENSP00000376695:A451T;ENSP00000262186:A547T;ENSP00000387657:A547T	ENSP00000262186:A547T	A	-	1	0	KCNH2	150279775	1.000000	0.71417	1.000000	0.80357	0.104000	0.19210	7.454000	0.80714	2.126000	0.65437	0.491000	0.48974	GCG	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350741.2		-	ENST00000262186.5	Missense_Mutation	SNP	7 : 150648842 - 150648842 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	283	50
CECR2	27443	broad.mit.edu	37	22	18031740	18031740	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18031740G>A	ENST00000400585.2	+	18	4248	c.3810G>A	c.(3808-3810)tcG>tcA	p.S1270S	CECR2_ENST00000262608.8_Silent_p.S1413S|CECR2_ENST00000400573.5_Silent_p.S1412S			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1454					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CGGTCCAGTCGCAGGCCTCGT	0.507		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	22		NA											NA				18031740		2080	4208	6288	SO:0001819	synonymous_variant			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954	27443	27443			1840	protein-coding gene	gene with protein product		607576			NA	11381032	Standard	NM_031413	XM_006724077	NA	Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.3810G>A	22.37:g.18031740G>A		NA	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	37																																																																																				CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000316226.2		+	ENST00000400585.2	Silent	SNP	22 : 18031740 - 18031740 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	69
AFAP1L1	134265	broad.mit.edu	37	5	148679100	148679100	+	Silent	SNP	C	C	T	rs116579139	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148679100C>T	ENST00000296721.4	+	2	143	c.45C>T	c.(43-45)acC>acT	p.T15T	AFAP1L1_ENST00000522492.1_3'UTR|AFAP1L1_ENST00000515000.1_Silent_p.T15T	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	15							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGAGCTCACCGGGCTGCTCA	0.652		NA											C	1	5e-04	NA	NA	2184	NA	0.9999	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.9181	EXOME	NA	NA	0.001	SNP								NA				0								C	,	1,4405	2.1+/-5.4	0,1,2202	59	56	57		45,45	-9.3	0	5	dbSNP_132	57	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	AFAP1L1	NM_001146337.1,NM_152406.2	,	0,2,6501	TT,TC,CC	NA	0.0116,0.0227,0.0154	,	15/726,15/769	148679100	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510	134265	134265		Pleckstrin homology (PH) domain containing	26714	protein-coding gene	gene with protein product		614410			NA		Standard	NM_152406	NM_152406	NA	Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.45C>T	5.37:g.148679100C>T		NA	Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	37	CCDS34274.1																																																																																			AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373443.1		+	ENST00000296721.4	Silent	SNP	5 : 148679100 - 148679100 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	362	47
FOSL2	2355	broad.mit.edu	37	2	28635000	28635000	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:28635000A>T	ENST00000379619.1	+	4	650	c.642A>T	c.(640-642)aaA>aaT	p.K214N	FOSL2_ENST00000545753.1_Missense_Mutation_p.K183N|FOSL2_ENST00000264716.4_Missense_Mutation_p.K222N			P15408	FOSL2_HUMAN	FOS-like antigen 2	222					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					TAGTGGTGAAACAGGAGCCCC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	37	36			NA	NA	2		NA											NA				28635000		2203	4296	6499	SO:0001583	missense				CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426	2355	2355		basic leucine zipper proteins	3798	protein-coding gene	gene with protein product		601575			NA		Standard	NM_005253	NM_005253	NA	Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000379619.1:c.642A>T	2.37:g.28635000A>T	ENSP00000368939:p.Lys214Asn	NA		37		.	.	.	.	.	.	.	.	.	.	A	14.58	2.577826	0.45902	.	.	ENSG00000075426	ENST00000379619;ENST00000264716;ENST00000436647;ENST00000545753	D;T;T;T	0.81499	-1.5;-0.4;-1.36;-1.39	5.05	-5.02	0.02982	.	0.900315	0.08935	U	0.872467	T	0.78304	0.4262	M	0.66378	2.025	0.58432	D	0.999998	B	0.24043	0.096	B	0.18263	0.021	T	0.59440	-0.7454	10	0.66056	D	0.02	-18.8801	17.6979	0.88286	0.1005:0.0:0.8995:0.0	.	222	P15408	FOSL2_HUMAN	N	214;222;183;183	ENSP00000368939:K214N;ENSP00000264716:K222N;ENSP00000396497:K183N;ENSP00000439303:K183N	ENSP00000264716:K222N	K	+	3	2	FOSL2	28488504	0.203000	0.23435	0.741000	0.31004	0.960000	0.62799	-0.018000	0.12568	-1.543000	0.01723	-0.411000	0.06167	AAA	FOSL2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000215117.1		+	ENST00000379619.1	Missense_Mutation	SNP	2 : 28635000 - 28635000 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	454	77
C9orf131	138724	broad.mit.edu	37	9	35044417	35044417	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35044417C>A	ENST00000312292.5	+	2	1838	c.1791C>A	c.(1789-1791)tcC>tcA	p.S597S	C9orf131_ENST00000421362.2_Silent_p.S549S|C9orf131_ENST00000354479.5_Silent_p.S524S	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	597										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CAAAAAACTCCTGGGCCTCTA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	109	108			NA	NA	9		NA											NA				35044417		2203	4300	6503	SO:0001819	synonymous_variant			BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038	138724	138724			31418	protein-coding gene	gene with protein product					NA		Standard	NM_203299	NM_001287391	NA	Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.1791C>A	9.37:g.35044417C>A		NA	Q86XC6|Q9UF74	37	CCDS6572.2																																																																																			C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052283.5		+	ENST00000312292.5	Silent	SNP	9 : 35044417 - 35044417 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	895	200
MYOC	4653	broad.mit.edu	37	1	171621507	171621507	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171621507C>T	ENST00000037502.6	-	1	316	c.245G>A	c.(244-246)cGc>cAc	p.R82H		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	NA			R -> C (in GLC1A).|R -> H.		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CAGGTCTAAGCGTTGGGTGCT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	94	102			NA	NA	1		NA											NA				171621507		2203	4300	6503	SO:0001583	missense			BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971	4653	4653			7610	protein-coding gene	gene with protein product		601652		GLC1A	NA	9169133, 9005853	Standard	NM_000261	NM_000261	NA	Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.245G>A	1.37:g.171621507C>T	ENSP00000037502:p.Arg82His	NA	B2RD84|O00620|Q7Z6Q9	37	CCDS1297.1	.	.	.	.	.	.	.	.	.	.	C	5.460	0.270037	0.10349	.	.	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000536591;ENST00000537133	T	0.57907	0.37	5.21	3.29	0.37713	.	0.342434	0.30809	N	0.008833	T	0.19327	0.0464	L	0.37561	1.115	0.09310	N	0.999991	B	0.13594	0.008	B	0.04013	0.001	T	0.09862	-1.0655	10	0.37606	T	0.19	.	6.7439	0.23451	0.0:0.7854:0.0:0.2146	.	82	Q99972	MYOC_HUMAN	H	82;82;15;82	ENSP00000037502:R82H	ENSP00000037502:R82H	R	-	2	0	MYOC	169888130	0.011000	0.17503	0.625000	0.29200	0.159000	0.22180	-0.090000	0.11163	1.285000	0.44548	0.655000	0.94253	CGC	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084178.2		-	ENST00000037502.6	Missense_Mutation	SNP	1 : 171621507 - 171621507 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	531	38
YEATS2	55689	broad.mit.edu	37	3	183503951	183503951	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183503951C>T	ENST00000305135.5	+	20	2970	c.2775C>T	c.(2773-2775)tcC>tcT	p.S925S		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	925					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGAAAATATCCGATAGCACCT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	68	69			NA	NA	3		NA											NA				183503951		2007	4195	6202	SO:0001819	synonymous_variant			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872	55689	55689			25489	protein-coding gene	gene with protein product		613373			NA	10574462	Standard	NM_018023	NM_018023	NA	Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.2775C>T	3.37:g.183503951C>T		NA	A7E2B9|D3DNS9|Q641P6|Q9NW96	37	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	C	9.956	1.221416	0.22457	.	.	ENSG00000163872	ENST00000432781	.	.	.	5.73	-11.5	0.00074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.4236	4.9978	0.14249	0.3097:0.4504:0.1031:0.1368	.	.	.	.	X	111	.	.	R	+	1	2	YEATS2	184986645	0.000000	0.05858	0.715000	0.30552	0.996000	0.88848	-3.082000	0.00613	-1.690000	0.01432	-0.290000	0.09829	CGA	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346507.2		+	ENST00000305135.5	Silent	SNP	3 : 183503951 - 183503951 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	303	49
USP20	10868	broad.mit.edu	37	9	132642473	132642473	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132642473G>A	ENST00000315480.4	+	25	2824	c.2666G>A	c.(2665-2667)cGc>cAc	p.R889H	USP20_ENST00000358355.1_Missense_Mutation_p.R889H|USP20_ENST00000472108.1_3'UTR|USP20_ENST00000372429.3_Missense_Mutation_p.R889H			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	889	DUSP 2.				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				ATTGCCATCCGCCAGAGTGTG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG,HIS/ARG,HIS/ARG	0,4126		0,0,2063	31	42	38		2666,2666,2666	5.1	1	9		38	1,8401		0,1,4200	no	missense,missense,missense	USP20	NM_001008563.3,NM_001110303.2,NM_006676.6	29,29,29	0,1,6263	AA,AG,GG	NA	0.0119,0.0,0.0080	possibly-damaging,possibly-damaging,possibly-damaging	889/915,889/915,889/915	132642473	1,12527	2063	4201	6264	SO:0001583	missense			AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878	NA	10868		Ubiquitin-specific peptidases	12619	protein-coding gene	gene with protein product		615143	ubiquitin specific protease 20		NA	12838346	Standard		NM_006676	NA	Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.2666G>A	9.37:g.132642473G>A	ENSP00000313811:p.Arg889His	NA	Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	37	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070762	0.76301	0.0	1.19E-4	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.19394	2.15;2.15;2.15	5.11	5.11	0.69529	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (2);	0.000000	0.85682	D	0.000000	T	0.48786	0.1519	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52548	-0.8561	10	0.87932	D	0	.	17.5407	0.87846	0.0:0.0:1.0:0.0	.	889	Q9Y2K6	UBP20_HUMAN	H	889	ENSP00000361506:R889H;ENSP00000313811:R889H;ENSP00000351122:R889H	ENSP00000313811:R889H	R	+	2	0	USP20	131682294	1.000000	0.71417	0.981000	0.43875	0.049000	0.14656	9.351000	0.97073	2.387000	0.81309	0.655000	0.94253	CGC	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054604.2		+	ENST00000315480.4	Missense_Mutation	SNP	9 : 132642473 - 132642473 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	48
ZNF480	147657	broad.mit.edu	37	19	52825103	52825103	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52825103A>G	ENST00000490272.1	+	0	408				ZNF480_ENST00000335090.6_Silent_p.E123E|ZNF480_ENST00000595962.1_Silent_p.E200E|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000334564.7_Silent_p.E157E			Q8WV37	ZN480_HUMAN	zinc finger protein 480	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		ACCTTAGAGAAAAACCTTATG	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	84	83			NA	NA	19		NA											NA				52825103		2203	4300	6503	SO:0001624	3_prime_UTR_variant			AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464	147657	147657		Zinc fingers, C2H2-type, -	23305	protein-coding gene	gene with protein product		613910			NA	15219843	Standard	NM_144684	XM_005258525	NA	Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000490272.1:c.*158A>G	19.37:g.52825103A>G		NA	Q5JPG9|Q6P0Q4|Q8N1M5	37																																																																																				ZNF480-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000349002.1		+	ENST00000490272.1	3'UTR	SNP	19 : 52825103 - 52825103 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	403	59
HEATR2	54919	broad.mit.edu	37	7	814759	814759	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:814759C>T	ENST00000403952.3	+	4	1147	c.474C>T	c.(472-474)ggC>ggT	p.G158G	HEATR2_ENST00000297440.6_Silent_p.G733G|HEATR2_ENST00000313147.5_Silent_p.G733G			Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	733							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		AAACCTCGGGCGGCATGACGG	0.512		NA									OREG0017814|OREG0026740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	103	105			NA	NA	7		NA											NA				814759		2203	4300	6503	SO:0001819	synonymous_variant			AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818	54919	54919			26013	protein-coding gene	gene with protein product		614864			NA	23040496	Standard	NM_017802	NM_017802	NA	Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000403952.3:c.474C>T	7.37:g.814759C>T		591	Q69YL1|Q96FI9|Q9NX75	37		.	.	.	.	.	.	.	.	.	.	C	4.211	0.037850	0.08148	.	.	ENSG00000164818	ENST00000440747	.	.	.	5.15	-6.33	0.01988	.	.	.	.	.	T	0.31327	0.0793	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.38887	-0.9640	4	.	.	.	-8.5751	11.3342	0.49494	0.0:0.2364:0.6131:0.1504	.	.	.	.	W	535	.	.	R	+	1	2	HEATR2	781285	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.697000	0.05098	-1.031000	0.03308	-0.367000	0.07326	CGG	HEATR2-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000322546.1		+	ENST00000403952.3	Silent	SNP	7 : 814759 - 814759 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	268	47
PIAS1	8554	broad.mit.edu	37	15	68479934	68479934	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:68479934G>T	ENST00000545237.1	+	15	2464	c.1723G>T	c.(1723-1725)Gac>Tac	p.D575Y	PIAS1_ENST00000249636.6_Missense_Mutation_p.D573Y			O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	573	4 X 4 AA repeats of N-T-S-L.				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						AGATGATCAAGACCTCCTACA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	86	87			NA	NA	15		NA											NA				68479934		1914	4118	6032	SO:0001583	missense			AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800	8554	8554		Zinc fingers, MIZ-type	2752	protein-coding gene	gene with protein product	zinc finger, MIZ-type containing 3	603566	DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1	DDXBP1	NA	9724754, 9177271	Standard		XM_005254735	NA	Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000545237.1:c.1723G>T	15.37:g.68479934G>T	ENSP00000438574:p.Asp575Tyr	NA	B2RB67|Q147X4|Q99751|Q9UN02	37		.	.	.	.	.	.	.	.	.	.	G	27.4	4.831959	0.91036	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.36878	1.24;1.23	5.85	5.85	0.93711	.	0.134217	0.64402	D	0.000002	T	0.40372	0.1114	L	0.53249	1.67	0.80722	D	1	B	0.13145	0.007	B	0.08055	0.003	T	0.19484	-1.0304	10	0.87932	D	0	-7.6537	20.1731	0.98165	0.0:0.0:1.0:0.0	.	573	O75925	PIAS1_HUMAN	Y	573;575	ENSP00000249636:D573Y;ENSP00000438574:D575Y	ENSP00000249636:D573Y	D	+	1	0	PIAS1	66266988	1.000000	0.71417	0.998000	0.56505	0.889000	0.51656	9.122000	0.94380	2.768000	0.95171	0.655000	0.94253	GAC	PIAS1-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000419717.1		+	ENST00000545237.1	Missense_Mutation	SNP	15 : 68479934 - 68479934 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	461	76
ADAMTSL4	54507	broad.mit.edu	37	1	150525729	150525729	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150525729G>T	ENST00000369038.2	+	3	635	c.434G>T	c.(433-435)aGg>aTg	p.R145M	RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369039.5_Splice_Site_p.R145M|ADAMTSL4_ENST00000271643.4_Splice_Site_p.R145M|ADAMTSL4_ENST00000369041.5_Splice_Site_p.R145M			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	145					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCGGCCAGGAGGTGAGAGGCC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	20	19			NA	NA	1		NA											NA				150525729		2189	4285	6474	SO:0001630	splice_region_variant			BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382	54507	54507			19706	protein-coding gene	gene with protein product		610113	thrombospondin repeat containing 1	TSRC1	NA	12706885	Standard	NM_019032	NM_019032	NA	Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.434+1G>T	1.37:g.150525729G>T		NA	Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	37	CCDS955.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.714946	0.68844	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.72167	-0.58;-0.63;-0.37;-0.63	4.46	4.46	0.54185	.	.	.	.	.	T	0.76499	0.3996	M	0.63843	1.955	0.39085	D	0.960988	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.998;0.996;0.999	T	0.79869	-0.1621	9	0.66056	D	0.02	.	12.603	0.56506	0.0:0.0:1.0:0.0	.	145;145;145;145	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	M	145	ENSP00000358037:R145M;ENSP00000271643:R145M;ENSP00000358035:R145M;ENSP00000358034:R145M	ENSP00000271643:R145M	R	+	2	0	ADAMTSL4	148792353	1.000000	0.71417	0.999000	0.59377	0.679000	0.39708	4.520000	0.60524	2.029000	0.59856	0.561000	0.74099	AGG	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084395.4	Missense_Mutation	+	ENST00000369038.2	Splice_Site	SNP	1 : 150525729 - 150525729 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	272	35
PDGFB	5155	broad.mit.edu	37	22	39629477	39629477	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39629477G>A	ENST00000331163.6	-	3	1000	c.213C>T	c.(211-213)ggC>ggT	p.G71G	PDGFB_ENST00000381551.4_Silent_p.G56G	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	71					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)				Becaplermin(DB00102)	TCTCCAGCTCGCCTCCAGAGT	0.597		NA	T	COL1A1	DFSP									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		22	22q12.3-q13.1	5155	platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)		M	0													58	59	59			NA	NA	22		NA											NA				39629477		2203	4300	6503	SO:0001819	synonymous_variant				CCDS13987.1, CCDS33650.1	22q13.1	2012-10-02	2011-05-19		ENSG00000100311	ENSG00000100311	5155	5155			8800	protein-coding gene	gene with protein product	oncogene SIS, becaplermin	190040	platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)	SIS	NA	2991848, 1661670	Standard	NM_002608	NM_002608	NA	Approved	SSV	uc003axf.3	P01127	OTTHUMG00000151029	ENST00000331163.6:c.213C>T	22.37:g.39629477G>A		NA	P78431|Q6FHE7|Q9UF23	37	CCDS13987.1																																																																																			PDGFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321043.1		-	ENST00000331163.6	Silent	SNP	22 : 39629477 - 39629477 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	362	18
CNTN6	27255	broad.mit.edu	37	3	1394015	1394015	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:1394015C>A	ENST00000446702.2	+	12	1999	c.1372C>A	c.(1372-1374)Ctc>Atc	p.L458I	CNTN6_ENST00000350110.2_Missense_Mutation_p.L458I|CNTN6_ENST00000539053.1_Missense_Mutation_p.L386I			Q9UQ52	CNTN6_HUMAN	contactin 6	458	Ig-like C2-type 5.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TAGAATATTTCTCTTGGAGGA	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	56	56			NA	NA	3		NA											NA				1394015		2203	4299	6502	SO:0001583	missense			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115	27255	27255		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	2176	protein-coding gene	gene with protein product	neural adhesion molecule	607220			NA	9486763	Standard	NM_014461	NM_014461	NA	Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.1372C>A	3.37:g.1394015C>A	ENSP00000407822:p.Leu458Ile	NA	Q2KHM2	37	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	C	0.097	-1.158095	0.01686	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.65364	-0.15;-0.15;-0.15	5.68	0.44	0.16572	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.322819	0.22167	N	0.063700	T	0.21590	0.0520	N	0.02158	-0.66	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.22626	-1.0211	10	0.02654	T	1	.	0.6072	0.00755	0.4032:0.2267:0.1564:0.2138	.	458	Q9UQ52	CNTN6_HUMAN	I	458;386;458	ENSP00000407822:L458I;ENSP00000442791:L386I;ENSP00000341882:L458I	ENSP00000341882:L458I	L	+	1	0	CNTN6	1369015	0.012000	0.17670	0.005000	0.12908	0.785000	0.44390	0.046000	0.14035	0.385000	0.24970	0.585000	0.79938	CTC	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239235.2		+	ENST00000446702.2	Missense_Mutation	SNP	3 : 1394015 - 1394015 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	254	43
PMS2	5395	broad.mit.edu	37	7	6027116	6027116	+	Missense_Mutation	SNP	C	C	T	rs112902065		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6027116C>T	ENST00000265849.7	-	11	1385	c.1280G>A	c.(1279-1281)cGt>cAt	p.R427H	PMS2_ENST00000406569.3_Missense_Mutation_p.R427H|PMS2_ENST00000441476.2_Missense_Mutation_p.R321H|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000382321.4_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	427					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TGTTGTGTGACGAAGAGAAAA	0.478		NA	Mis, N, F			colorectal, endometrial, ovarian, medulloblastoma, glioma		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				c	3	0.0014	0.01	NA	2184	NA	0.9994	,	,	NA	3e-04	NA	NA	NA	0.0014	0.8145	LOWCOV	NA	NA	5e-04	SNP		yes	Rec		Hereditary non-polyposis colorectal cancer, Turcot syndrome	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	0													52	51	51			NA	NA	7		NA											NA				6027116		2203	4299	6502	SO:0001583	missense	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512	5395	5395			9122	protein-coding gene	gene with protein product		600259	postmeiotic segregation increased (S. cerevisiae) 2	PMSL2	NA	8072530	Standard	NM_000535	NM_000535	NA	Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.1280G>A	7.37:g.6027116C>T	ENSP00000265849:p.Arg427His	NA	B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	37	CCDS5343.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	c	10.57	1.386024	0.25031	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476;ENST00000406569	T;T;D	0.85955	1.0;1.0;-2.05	5.84	-1.11	0.09840	.	0.746320	0.13341	N	0.395124	T	0.55609	0.1931	N	0.01874	-0.695	0.25367	N	0.988733	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.0;0.001	T	0.46345	-0.9198	10	0.27785	T	0.31	-1.5374	12.7236	0.57156	0.0:0.2476:0.0:0.7524	.	427;427;321	P54278-3;P54278;C9J167	.;PMS2_HUMAN;.	H	427;380;321;427	ENSP00000265849:R427H;ENSP00000392843:R321H;ENSP00000384308:R427H	ENSP00000265849:R427H	R	-	2	0	PMS2	5993642	0.096000	0.21769	0.045000	0.18777	0.360000	0.29518	0.248000	0.18198	-0.419000	0.07439	-0.827000	0.03088	CGT	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207353.3		-	ENST00000265849.7	Missense_Mutation	SNP	7 : 6027116 - 6027116 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	307	46
COL4A6	1288	broad.mit.edu	37	X	107423784	107423784	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107423784G>A	ENST00000334504.7	-	25	2325	c.2092C>T	c.(2092-2094)Cca>Tca	p.P698S	COL4A6_ENST00000372216.4_Missense_Mutation_p.P699S|COL4A6_ENST00000538570.1_Missense_Mutation_p.P698S|COL4A6_ENST00000394872.2_Missense_Mutation_p.P699S|COL4A6_ENST00000545689.1_Missense_Mutation_p.P698S	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	699	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGACTCCCTGGCTCTCCTTTA	0.517		NA							Alport syndrome with Diffuse Leiomyomatosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(87;1895 1945 2589 7165)							NA				0													64	50	55			NA	NA	X		NA											NA				107423784		2203	4300	6503	SO:0001583	missense	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565	1288	1288		Collagens	2208	protein-coding gene	gene with protein product		303631			NA	8356449	Standard		NM_033641	NA	Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000334504.7:c.2092C>T	X.37:g.107423784G>A	ENSP00000334733:p.Pro698Ser	NA	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	37	CCDS14542.1	.	.	.	.	.	.	.	.	.	.	G	7.311	0.614929	0.14129	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.97665	-4.48;-4.48;-4.48;-4.48;-4.48	5.16	4.29	0.51040	.	0.417786	0.18228	N	0.147645	D	0.97629	0.9223	M	0.62088	1.915	0.09310	N	0.999991	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.97110	0.995;0.992;1.0;0.989	D	0.93118	0.6522	10	0.40728	T	0.16	.	11.1653	0.48539	0.0:0.1351:0.7218:0.143	.	698;698;699;698	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	S	699;698;699;698;698;698	ENSP00000361290:P699S;ENSP00000334733:P698S;ENSP00000378340:P699S;ENSP00000443707:P698S;ENSP00000445236:P698S	ENSP00000334733:P698S	P	-	1	0	COL4A6	107310440	0.009000	0.17119	0.010000	0.14722	0.016000	0.09150	1.545000	0.36169	1.230000	0.43646	0.513000	0.50165	CCA	COL4A6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057876.2		-	ENST00000334504.7	Missense_Mutation	SNP	X : 107423784 - 107423784 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	130	46
PRKRIR	5612	broad.mit.edu	37	11	76063034	76063034	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76063034A>C	ENST00000260045.3	-	5	1265	c.1160T>G	c.(1159-1161)gTt>gGt	p.V387G		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	387					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						AAAAGAACAAACTTCCTCAAT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	49	50			NA	NA	11		NA											NA				76063034		2198	4288	6486	SO:0001583	missense			AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492	5612	5612		THAP (C2CH-type zinc finger) domain containing	9440	protein-coding gene	gene with protein product	THAP domain containing 12	607374			NA	9447982	Standard	NM_004705	NM_004705	NA	Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.1160T>G	11.37:g.76063034A>C	ENSP00000260045:p.Val387Gly	NA	A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	37	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	A	18.72	3.685370	0.68157	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	T;T	0.23754	1.89;1.89	4.78	4.78	0.61160	Ribonuclease H-like (1);	0.275476	0.41938	D	0.000792	T	0.30262	0.0759	L	0.50333	1.59	0.80722	D	1	P	0.51791	0.948	P	0.45829	0.494	T	0.08764	-1.0706	10	0.59425	D	0.04	.	14.7428	0.69469	1.0:0.0:0.0:0.0	.	387	O43422	P52K_HUMAN	G	212;387	ENSP00000436249:V212G;ENSP00000260045:V387G	ENSP00000260045:V387G	V	-	2	0	PRKRIR	75740682	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.649000	0.74364	1.956000	0.56807	0.524000	0.50904	GTT	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383188.1		-	ENST00000260045.3	Missense_Mutation	SNP	11 : 76063034 - 76063034 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	453	96
ITGA3	3675	broad.mit.edu	37	17	48158697	48158697	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48158697C>A	ENST00000320031.8	+	23	3174	c.2844C>A	c.(2842-2844)gtC>gtA	p.V948V	ITGA3_ENST00000007722.7_Silent_p.V948V	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	948					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TTGACCGAGTCCGGGTAAATG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	61	68			NA	NA	17		NA											NA				48158697		2203	4298	6501	SO:0001819	synonymous_variant			M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884	3675	3675		CD molecules, Integrins	6139	protein-coding gene	gene with protein product		605025	antigen identified by monoclonal antibody J143	MSK18	NA	1655803, 9704023	Standard	NM_005501	NM_005501	NA	Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.2844C>A	17.37:g.48158697C>A		NA	A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	37	CCDS11558.1																																																																																			ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366298.1		+	ENST00000320031.8	Silent	SNP	17 : 48158697 - 48158697 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	55	9
TEAD4	7004	broad.mit.edu	37	12	3121335	3121335	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3121335G>T	ENST00000359864.2	+	5	481		c.e5-1		TEAD4_ENST00000358409.2_Splice_Site|TEAD4_ENST00000397122.2_Splice_Site	NM_003213.3	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4	NA					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CCCTGCCACAGGTCTCCAGCC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	55	57			NA	NA	12		NA											NA				3121335		2203	4300	6503	SO:0001630	splice_region_variant			X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905	7004	7004			11717	protein-coding gene	gene with protein product		601714		TCF13L1	NA	9889009, 8921372	Standard	NM_003213	NM_003213	NA	Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000359864.2:c.292-1G>T	12.37:g.3121335G>T		NA	Q92883|Q96BK2	37	CCDS31729.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655937	0.47467	.	.	ENSG00000197905	ENST00000358409;ENST00000359864;ENST00000543035;ENST00000544666	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5984	0.88018	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TEAD4	2991596	1.000000	0.71417	1.000000	0.80357	0.416000	0.31233	9.012000	0.93624	2.468000	0.83385	0.655000	0.94253	.	TEAD4-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398475.1	Intron	+	ENST00000359864.2	Splice_Site	SNP	12 : 3121335 - 3121335 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	191	32
AGA	175	broad.mit.edu	37	4	178360778	178360778	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:178360778G>A	ENST00000264595.2	-	3	473	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	116					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		AGTACTTTCCGTGCCACACCA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													222	212	216			NA	NA	4		NA											NA				178360778		2203	4300	6503	SO:0001583	missense			X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	175	175	3.5.1.26		318	protein-coding gene	gene with protein product	glycosylasparaginase, N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase	613228			NA		Standard	NM_000027	NM_000027	NA	Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.346C>T	4.37:g.178360778G>A	ENSP00000264595:p.Arg116Trp	NA	B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	37	CCDS3829.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923781	0.73213	.	.	ENSG00000038002	ENST00000264595;ENST00000502310	D;D	0.90133	-2.62;-2.45	5.93	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.96592	0.8888	H	0.95470	3.675	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	D	0.96986	0.9718	10	0.59425	D	0.04	-20.7211	15.6822	0.77381	0.0:0.0:0.7797:0.2203	.	116	P20933	ASPG_HUMAN	W	116;1	ENSP00000264595:R116W;ENSP00000423798:R1W	ENSP00000264595:R116W	R	-	1	2	AGA	178597772	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.024000	0.49674	2.805000	0.96524	0.655000	0.94253	CGG	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361916.1		-	ENST00000264595.2	Missense_Mutation	SNP	4 : 178360778 - 178360778 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1242	198
USHBP1	83878	broad.mit.edu	37	19	17373371	17373371	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17373371A>G	ENST00000252597.3	-	4	805	c.632T>C	c.(631-633)cTg>cCg	p.L211P	USHBP1_ENST00000431146.2_Missense_Mutation_p.L147P	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	211							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CTCTTTCTGCAGCGTCTCCTT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	35	37			NA	NA	19		NA											NA				17373371		2198	4296	6494	SO:0001583	missense			AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307	83878	83878			24058	protein-coding gene	gene with protein product		611810			NA	11311560	Standard	NM_031941	XM_005260093	NA	Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.632T>C	19.37:g.17373371A>G	ENSP00000252597:p.Leu211Pro	NA	Q8NBX7|Q96KH3|Q9BYI8	37	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.111685	0.56398	.	.	ENSG00000130307	ENST00000252597;ENST00000431146;ENST00000324554	T;T	0.38722	1.18;1.12	3.83	3.83	0.44106	.	0.720289	0.11602	N	0.547680	T	0.52789	0.1756	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.982;0.996;0.982	T	0.50701	-0.8797	10	0.87932	D	0	-9.7072	10.8449	0.46737	1.0:0.0:0.0:0.0	.	147;211;211	B4DUE8;Q8N8Y1;Q8N6Y0	.;.;USBP1_HUMAN	P	211;147;211	ENSP00000252597:L211P;ENSP00000407902:L147P	ENSP00000252597:L211P	L	-	2	0	USHBP1	17234371	0.997000	0.39634	0.985000	0.45067	0.760000	0.43138	4.935000	0.63498	1.527000	0.49086	0.260000	0.18958	CTG	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463328.1		-	ENST00000252597.3	Missense_Mutation	SNP	19 : 17373371 - 17373371 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	328	55
DCC	1630	broad.mit.edu	37	18	50592518	50592518	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:50592518C>A	ENST00000581580.1	+	4	473	c.208C>A	c.(208-210)Ctc>Atc	p.L70I	DCC_ENST00000580146.1_3'UTR|DCC_ENST00000442544.2_Missense_Mutation_p.L415I|DCC_ENST00000412726.1_Missense_Mutation_p.L263I			P43146	DCC_HUMAN	DCC netrin 1 receptor	415	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CAGTGCACAGCTCATTGTCCC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	131	137			NA	NA	18		NA											NA				50592518		2203	4300	6503	SO:0001583	missense			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323	1630	1630		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	2701	protein-coding gene	gene with protein product	immunoglobulin superfamily, DCC subclass, member 1	120470	deleted in colorectal carcinoma		NA	2294591, 24400119	Standard	NM_005215	NM_005215	NA	Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000581580.1:c.208C>A	18.37:g.50592518C>A	ENSP00000464582:p.Leu70Ile	NA		37		.	.	.	.	.	.	.	.	.	.	C	13.44	2.238434	0.39598	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	D;D	0.89746	-2.56;-2.56	5.01	4.12	0.48240	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000012	D	0.92835	0.7721	M	0.66378	2.025	0.44562	D	0.997522	P;P;P	0.46220	0.584;0.874;0.844	P;P;D	0.68621	0.744;0.833;0.959	D	0.92639	0.6123	10	0.59425	D	0.04	.	12.1051	0.53807	0.0:0.9141:0.0:0.0859	.	263;263;415	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	I	415;348;263	ENSP00000389140:L415I;ENSP00000397322:L263I	ENSP00000304146:L348I	L	+	1	0	DCC	48846516	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.402000	0.59722	2.497000	0.84241	0.650000	0.86243	CTC	DCC-011	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000447776.2		+	ENST00000581580.1	Missense_Mutation	SNP	18 : 50592518 - 50592518 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	426	95
PRELP	5549	broad.mit.edu	37	1	203452334	203452334	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203452334C>A	ENST00000343110.2	+	2	149	c.22C>A	c.(22-24)Ctc>Atc	p.L8I		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	8					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			CCTCTGCTGGCTCCTCCCACT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	89	87			NA	NA	1		NA											NA				203452334		2203	4298	6501	SO:0001583	missense			BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783	5549	5549		Proteoglycans / Extracellular Matrix : Small leucine-rich repeats	9357	protein-coding gene	gene with protein product	prolargin proteoglycan	601914	proline arginine-rich end leucine-rich repeat protein		NA		Standard	NM_002725	NM_002725	NA	Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.22C>A	1.37:g.203452334C>A	ENSP00000343924:p.Leu8Ile	NA		37	CCDS1438.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.215986	0.39201	.	.	ENSG00000188783	ENST00000343110	T	0.42900	0.96	5.09	-0.72	0.11195	.	0.975835	0.08385	N	0.953853	T	0.18087	0.0434	N	0.08118	0	0.35990	D	0.836638	B	0.06786	0.001	B	0.04013	0.001	T	0.37753	-0.9692	10	0.13470	T	0.59	-1.156	4.4875	0.11797	0.234:0.4619:0.2291:0.075	.	8	P51888	PRELP_HUMAN	I	8	ENSP00000343924:L8I	ENSP00000343924:L8I	L	+	1	0	PRELP	201718957	0.069000	0.21087	1.000000	0.80357	0.988000	0.76386	-1.025000	0.03600	0.151000	0.19162	0.462000	0.41574	CTC	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087474.1		+	ENST00000343110.2	Missense_Mutation	SNP	1 : 203452334 - 203452334 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	741	142
ALG12	79087	broad.mit.edu	37	22	50307102	50307102	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50307102C>A	ENST00000330817.6	-	3	499	c.226G>T	c.(226-228)Gtg>Ttg	p.V76L		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	NA					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CTGGAGAACACTGCGATCACC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	81	84			NA	NA	22		NA											NA				50307102		2203	4300	6503	SO:0001583	missense			AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	79087	79087	2.4.1.260	Dolichyl D-mannosyl phosphate dependent mannosyltransferases	19358	protein-coding gene	gene with protein product	dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase, dol-P-Man dependent alpha-1,6-mannosyltransferase	607144	asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase), asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)		NA	11983712	Standard	NM_024105	NM_024105	NA	Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.226G>T	22.37:g.50307102C>A	ENSP00000333813:p.Val76Leu	NA	A6PWM1|Q4KMH4|Q8NG10|Q96AA4	37	CCDS14081.1	.	.	.	.	.	.	.	.	.	.	C	0.351	-0.944639	0.02304	.	.	ENSG00000182858	ENST00000330817	D	0.81996	-1.56	5.34	4.32	0.51571	.	0.435749	0.25341	N	0.031376	T	0.65080	0.2657	N	0.11818	0.18	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.46428	-0.9192	10	0.10377	T	0.69	-10.6288	9.9025	0.41355	0.138:0.7893:0.0:0.0727	.	76	Q9BV10	ALG12_HUMAN	L	76	ENSP00000333813:V76L	ENSP00000333813:V76L	V	-	1	0	ALG12	48693106	0.002000	0.14202	0.002000	0.10522	0.000000	0.00434	1.792000	0.38754	1.259000	0.44117	-0.216000	0.12614	GTG	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317405.2		-	ENST00000330817.6	Missense_Mutation	SNP	22 : 50307102 - 50307102 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	414	40
TANC1	85461	broad.mit.edu	37	2	160019849	160019849	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160019849G>A	ENST00000263635.6	+	8	975	c.738G>A	c.(736-738)tgG>tgA	p.W246*	TANC1_ENST00000454300.1_Nonsense_Mutation_p.W140*	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	246						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GTTTGGAATGGAATAAAGATG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	63	62			NA	NA	2		NA											NA				160019849		1890	4103	5993	SO:0001587	stop_gained			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183	85461	85461		Ankyrin repeat domain containing, Tetratricopeptide (TTC) repeat domain containing	29364	protein-coding gene	gene with protein product	rolling pebbles homolog B (Drosophila)	611397			NA	15673434	Standard		NM_033394	NA	Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.738G>A	2.37:g.160019849G>A	ENSP00000263635:p.Trp246*	NA	C9JD88|Q49AI8	37	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	39	7.336726	0.98221	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	.	.	.	6.04	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.41	0.74911	0.0663:0.0:0.9337:0.0	.	.	.	.	X	140;246	.	ENSP00000263635:W246X	W	+	3	0	TANC1	159728095	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.616000	0.98359	1.577000	0.49804	0.563000	0.77884	TGG	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333135.1		+	ENST00000263635.6	Nonsense_Mutation	SNP	2 : 160019849 - 160019849 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	465	124
C1orf162	128346	broad.mit.edu	37	1	112020639	112020639	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:112020639C>A	ENST00000343534.5	+	6	612	c.362C>A	c.(361-363)gCc>gAc	p.A121D	C1orf162_ENST00000369718.3_Missense_Mutation_p.A96D|C1orf162_ENST00000464591.1_3'UTR	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN	chromosome 1 open reading frame 162	121						integral to membrane		p.A121V(1)		NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		CTTACCTATGCCAGCACAACT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	ovary(1)											103	98	99			NA	NA	1		NA											NA				112020639		2203	4300	6503	SO:0001583	missense			BC017973	CCDS837.1, CCDS72837.1	1p13.2	2008-02-05			ENSG00000143110	ENSG00000143110	128346	128346			28344	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_174896	XM_005270475	NA	Approved	MGC24133	uc001ebe.3	Q8NEQ5	OTTHUMG00000011750	ENST00000343534.5:c.362C>A	1.37:g.112020639C>A	ENSP00000344218:p.Ala121Asp	NA	Q5QNZ1	37	CCDS837.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333575	0.60853	.	.	ENSG00000143110	ENST00000343534;ENST00000369718	T;T	0.60299	0.2;0.21	5.11	4.15	0.48705	.	0.000000	0.44688	D	0.000423	T	0.53238	0.1784	L	0.34521	1.04	0.09310	N	1	D	0.89917	1.0	D	0.75020	0.985	T	0.45804	-0.9236	10	0.87932	D	0	-10.5295	11.5922	0.50951	0.0:0.8212:0.1788:0.0	.	121	Q8NEQ5	CA162_HUMAN	D	121;96	ENSP00000344218:A121D;ENSP00000358732:A96D	ENSP00000344218:A121D	A	+	2	0	C1orf162	111822162	0.052000	0.20516	0.192000	0.23308	0.011000	0.07611	0.626000	0.24492	2.651000	0.90000	0.655000	0.94253	GCC	C1orf162-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032471.1		+	ENST00000343534.5	Missense_Mutation	SNP	1 : 112020639 - 112020639 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	418	40
SCN4A	6329	broad.mit.edu	37	17	62021185	62021185	+	Missense_Mutation	SNP	G	G	A	rs121908547		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62021185G>A	ENST00000578147.1	-	22	4014	c.3938C>T	c.(3937-3939)aCg>aTg	p.T1313M	SCN4A_ENST00000435607.1_Missense_Mutation_p.T1313M			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1313			T -> M (in PMC).		muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.T1313M(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CTGTTCCTCCGTCATAAAGAT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)	GRCh37	CM941270	SCN4A	M	rs121908547						82	85	84			NA	NA	17		NA											NA				62021185		2153	4285	6438	SO:0001583	missense			U24693		17q23.3	2012-02-26	2007-01-23				6329	6329		Sodium channels, Voltage-gated ion channels / Sodium channels	10591	protein-coding gene	gene with protein product		603967		HYKPP	NA	1654742, 1659948, 16382098	Standard	NM_000334	XM_005257566	NA	Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000578147.1:c.3938C>T	17.37:g.62021185G>A	ENSP00000463963:p.Thr1313Met	NA	Q15478|Q16447|Q7Z6B1	37		.	.	.	.	.	.	.	.	.	.	G	20.9	4.074254	0.76415	.	.	ENSG00000007314	ENST00000435607	D	0.97430	-4.38	3.38	3.38	0.38709	.	0.056477	0.64402	N	0.000001	D	0.99064	0.9679	H	0.98738	4.315	0.58432	D	0.999995	D	0.89917	1.0	D	0.79108	0.992	D	0.98609	1.0662	10	0.72032	D	0.01	.	14.2846	0.66238	0.0:0.0:1.0:0.0	.	1313	P35499	SCN4A_HUMAN	M	1313	ENSP00000396320:T1313M	ENSP00000396320:T1313M	T	-	2	0	SCN4A	59374917	1.000000	0.71417	0.991000	0.47740	0.941000	0.58515	9.592000	0.98245	1.903000	0.55091	0.448000	0.29417	ACG	SCN4A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000444562.1		-	ENST00000578147.1	Missense_Mutation	SNP	17 : 62021185 - 62021185 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	165	27
ARAP3	64411	broad.mit.edu	37	5	141059831	141059831	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141059831A>G	ENST00000508305.1	-	0	238				ARAP3_ENST00000239440.4_Missense_Mutation_p.S75P			Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	NA					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GCACTATCTGATTTGGGATCC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	93	91			NA	NA	5		NA											NA				141059831		2203	4300	6503	SO:0001623	5_prime_UTR_variant			AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318	64411	64411		ADP-ribosylation factor GTPase activating proteins, Sterile alpha motif (SAM) domain containing, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing	24097	protein-coding gene	gene with protein product		606647	centaurin, delta 3	CENTD3	NA	11804589, 12015138	Standard	NM_022481	XM_005268497	NA	Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000508305.1:c.-12T>C	5.37:g.141059831A>G		NA	D3DQE3	37		.	.	.	.	.	.	.	.	.	.	A	2.403	-0.337227	0.05278	.	.	ENSG00000120318	ENST00000239440;ENST00000504448	T;T	0.58652	3.17;0.32	4.35	-1.53	0.08611	.	1.612410	0.03777	N	0.260768	T	0.36248	0.0960	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.20107	-1.0285	10	0.29301	T	0.29	.	8.6091	0.33791	0.3899:0.0:0.6101:0.0	.	75	Q8WWN8	ARAP3_HUMAN	P	75	ENSP00000239440:S75P;ENSP00000421148:S75P	ENSP00000239440:S75P	S	-	1	0	ARAP3	141040015	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	0.024000	0.13555	-0.140000	0.11394	0.374000	0.22700	TCA	ARAP3-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000373653.2		-	ENST00000508305.1	5'UTR	SNP	5 : 141059831 - 141059831 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	615	145
PLEC	5339	broad.mit.edu	37	8	144995928	144995928	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144995928G>A	ENST00000322810.4	-	32	8641	c.8472C>T	c.(8470-8472)gaC>gaT	p.D2824D	PLEC_ENST00000436759.2_Silent_p.D2714D|PLEC_ENST00000527096.1_Silent_p.D2710D|PLEC_ENST00000354589.3_Silent_p.D2687D|PLEC_ENST00000345136.3_Silent_p.D2687D|PLEC_ENST00000356346.3_Silent_p.D2673D|PLEC_ENST00000357649.2_Silent_p.D2691D|PLEC_ENST00000398774.2_Silent_p.D2655D|PLEC_ENST00000354958.2_Silent_p.D2665D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2824	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGTGGCGCACGTCTTCCCGCC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	37	36			NA	NA	8		NA											NA				144995928		2166	4266	6432	SO:0001819	synonymous_variant			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209	5339	5339			9069	protein-coding gene	gene with protein product		601282	plectin 1, intermediate filament binding protein, 500kD, epidermolysis bullosa simplex 1 (Ogna), plectin 1, intermediate filament binding protein 500kDa	EBS1, PLEC1	NA	8633055, 8696340	Standard	NM_000445	XM_005250976	NA	Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8472C>T	8.37:g.144995928G>A		NA	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	37	CCDS43772.1																																																																																			PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383281.1		-	ENST00000322810.4	Silent	SNP	8 : 144995928 - 144995928 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	448	80
KIAA1841	84542	broad.mit.edu	37	2	61344641	61344641	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61344641C>A	ENST00000402291.1	+	19	2146	c.1905C>A	c.(1903-1905)tcC>tcA	p.S635S	KIAA1841_ENST00000295031.5_Silent_p.S635S|KIAA1841_ENST00000453873.1_Silent_p.S635S|KIAA1841_ENST00000356719.2_Silent_p.S635S	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	635										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			CCACAAGATCCTTGAGATTCA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	149	148			NA	NA	2		NA											NA				61344641		2203	4300	6503	SO:0001819	synonymous_variant			BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929	84542	84542			29387	protein-coding gene	gene with protein product					NA	11347906	Standard	NM_032506	NM_032506	NA	Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1905C>A	2.37:g.61344641C>A		NA	Q49AF0|Q6ZND0|Q96JI6	37	CCDS46296.1																																																																																			KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325477.1		+	ENST00000402291.1	Silent	SNP	2 : 61344641 - 61344641 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	477	78
SLC46A2	57864	broad.mit.edu	37	9	115652542	115652542	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115652542C>T	ENST00000374228.4	-	1	651	c.420G>A	c.(418-420)gcG>gcA	p.A140A		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	140						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						CGTTCAGCGCCGCCGCCCCGT	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	28	26			NA	NA	9		NA											NA				115652542		2198	4290	6488	SO:0001819	synonymous_variant			AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457	57864	57864		Solute carriers	16055	protein-coding gene	gene with protein product		608956	thymic stromal co-transporter	TSCOT	NA	10978518, 12826694	Standard	NM_033051	NM_033051	NA	Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.420G>A	9.37:g.115652542C>T		NA	Q86VT0|Q96NE2	37	CCDS6786.1																																																																																			SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053702.1		-	ENST00000374228.4	Silent	SNP	9 : 115652542 - 115652542 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	304	48
PRKAB1	5564	broad.mit.edu	37	12	120114475	120114475	+	Splice_Site	SNP	C	C	T	rs146667625		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120114475C>T	ENST00000540121.1	+	5	1010	c.168C>T	c.(166-168)tcC>tcT	p.S56S	PRKAB1_ENST00000541640.1_Splice_Site_p.S222S|PRKAB1_ENST00000229328.5_Splice_Site_p.S222S			Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	222				E -> Y (in Ref. 3; AAD09237/AAD00625).	cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol				endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	CGGGGATTTCCGTAAGTATGT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	109	100	103		666	-11	0.2	12	dbSNP_134	103	3,8597	3.0+/-9.4	0,3,4297	yes	coding-synonymous-near-splice	PRKAB1	NM_006253.4		0,3,6500	TT,TC,CC	NA	0.0349,0.0,0.0231		222/271	120114475	3,13003	2203	4300	6503	SO:0001630	splice_region_variant			BC001823	CCDS9191.1	12q24.1-q24.3	2008-05-14			ENSG00000111725	ENSG00000111725	5564	5564			9378	protein-coding gene	gene with protein product	AMPK beta 1	602740			NA	8557660	Standard	NM_006253	NM_006253	NA	Approved		uc001txg.3	Q9Y478	OTTHUMG00000168954	ENST00000540121.1:c.168+1C>T	12.37:g.120114475C>T		NA	Q9UBV0|Q9UE20|Q9UEX2|Q9Y6V8	37																																																																																				PRKAB1-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000401732.1	Silent	+	ENST00000540121.1	Splice_Site	SNP	12 : 120114475 - 120114475 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	233	49
LAIR2	3904	broad.mit.edu	37	19	55019358	55019358	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55019358G>A	ENST00000301202.2	+	3	445	c.323G>A	c.(322-324)gGa>gAa	p.G108E	LAIR2_ENST00000351841.2_Missense_Mutation_p.G108E	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	108	Ig-like C2-type.					extracellular region	receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		AAGCCCCCTGGATGGTCTGAG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	101	101			NA	NA	19		NA											NA				55019358		2203	4300	6503	SO:0001583	missense			AF013250	CCDS12897.1, CCDS12898.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167618	ENSG00000167618	3904	3904		Leukocyte-associated Ig like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	6478	protein-coding gene	gene with protein product		602993	leukocyte-associated Ig-like receptor 2		NA	9285412	Standard		XM_005277264	NA	Approved	CD306	uc002qgc.3	Q6ISS4	OTTHUMG00000065697	ENST00000301202.2:c.323G>A	19.37:g.55019358G>A	ENSP00000301202:p.Gly108Glu	NA	Q6PEZ4	37	CCDS12897.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.458951	0.01062	.	.	ENSG00000167618	ENST00000301202;ENST00000351841	T;T	0.15139	2.45;2.61	3.77	-7.55	0.01327	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	8.257690	0.00166	N	0.000009	T	0.08088	0.0202	N	0.13272	0.32	0.09310	N	1	B;B	0.27068	0.167;0.125	B;B	0.31390	0.085;0.129	T	0.18935	-1.0321	9	.	.	.	.	1.3272	0.02128	0.1782:0.2237:0.1497:0.4485	.	108;108	Q6ISS4-2;Q6ISS4	.;LAIR2_HUMAN	E	108	ENSP00000301202:G108E;ENSP00000301203:G108E	.	G	+	2	0	LAIR2	59711170	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-5.739000	0.00101	-1.884000	0.01119	0.313000	0.20887	GGA	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000140801.1		+	ENST00000301202.2	Missense_Mutation	SNP	19 : 55019358 - 55019358 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	680	119
GABARAPL2	11345	broad.mit.edu	37	16	75600792	75600792	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75600792C>T	ENST00000037243.2	+	2	213	c.77C>T	c.(76-78)cCc>cTc	p.P26L	GABARAPL2_ENST00000568455.1_5'UTR|GABARAPL2_ENST00000563744.1_Missense_Mutation_p.P26L|RP11-77K12.8_ENST00000564489.1_RNA|GABARAPL2_ENST00000565057.1_Missense_Mutation_p.P26L	NM_007285.6	NP_009216.1	P60520	GBRL2_HUMAN	GABA(A) receptor-associated protein-like 2	26					autophagy|intra-Golgi vesicle-mediated transport|positive regulation of ATPase activity|protein transport	autophagic vacuole membrane|cytosol|Golgi membrane|membrane fraction	ATPase binding|beta-tubulin binding|GABA receptor binding|microtubule binding|SNARE binding			lung(1)|ovary(1)	2						GCGAAATATCCCGACAGGGTT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	50	51			NA	NA	16		NA											NA				75600792		2198	4300	6498	SO:0001583	missense			AF087848	CCDS10921.1	16q22.1	2014-02-12			ENSG00000034713	ENSG00000034713	11345	11345			13291	protein-coding gene	gene with protein product		607452			NA	11414770	Standard	NM_007285	NM_007285	NA	Approved	GEF2, ATG8, GATE16, GATE-16, ATG8C	uc002fen.3	P60520	OTTHUMG00000137613	ENST00000037243.2:c.77C>T	16.37:g.75600792C>T	ENSP00000037243:p.Pro26Leu	NA	O08765|Q9DCP8|Q9UQF7	37	CCDS10921.1	.	.	.	.	.	.	.	.	.	.	C	36	5.726844	0.96847	.	.	ENSG00000034713	ENST00000037243	T	0.53857	0.6	5.4	5.4	0.78164	.	0.048229	0.85682	N	0.000000	T	0.67702	0.2921	M	0.88450	2.955	0.80722	D	1	B	0.28082	0.2	B	0.37731	0.257	T	0.71484	-0.4579	10	0.72032	D	0.01	-3.1656	17.7527	0.88439	0.0:1.0:0.0:0.0	.	26	P60520	GBRL2_HUMAN	L	26	ENSP00000037243:P26L	ENSP00000037243:P26L	P	+	2	0	GABARAPL2	74158293	1.000000	0.71417	0.962000	0.40283	0.881000	0.50899	7.115000	0.77110	2.544000	0.85801	0.655000	0.94253	CCC	GABARAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269029.1		+	ENST00000037243.2	Missense_Mutation	SNP	16 : 75600792 - 75600792 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	344	76
TPK1	27010	broad.mit.edu	37	7	144288631	144288631	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:144288631G>A	ENST00000360057.3	-	7	488	c.386C>T	c.(385-387)gCt>gTt	p.A129V	TPK1_ENST00000378099.3_Intron|TPK1_ENST00000549981.1_Missense_Mutation_p.A12V|TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000538212.2_Intron	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	129					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	AAAACGCCCAGCAAGGCCTCC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(45;88 1034 2073 5829 28455)							NA				0													89	87	88			NA	NA	7		NA											NA				144288631		2203	4300	6503	SO:0001583	missense			AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511	27010	27010			17358	protein-coding gene	gene with protein product	placental protein 20, thiamine pyrophosphokinase 1, thiamine kinase, thiamine diphosphokinase	606370			NA	11342111	Standard	NM_022445	NM_022445	NA	Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.386C>T	7.37:g.144288631G>A	ENSP00000353165:p.Ala129Val	NA	A8K0T7|D3DWG0|Q6NUR5|Q9H602	37	CCDS5888.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.631484	0.46944	.	.	ENSG00000196511	ENST00000360057;ENST00000549981;ENST00000552881	D;D	0.82711	-1.64;-1.64	5.78	0.307	0.15811	Thiamin pyrophosphokinase, catalytic domain (3);	0.349077	0.31134	N	0.008191	T	0.80177	0.4575	M	0.71581	2.175	0.09310	N	1	P	0.44478	0.836	B	0.34452	0.183	T	0.75365	-0.3343	10	0.87932	D	0	-2.8133	19.4398	0.94813	0.0:0.7357:0.2643:0.0	.	129	Q9H3S4	TPK1_HUMAN	V	129;12;129	ENSP00000353165:A129V;ENSP00000448655:A129V	ENSP00000353165:A129V	A	-	2	0	TPK1	143919564	0.033000	0.19621	0.018000	0.16275	0.912000	0.54170	0.557000	0.23454	0.048000	0.15891	0.655000	0.94253	GCT	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327777.1		-	ENST00000360057.3	Missense_Mutation	SNP	7 : 144288631 - 144288631 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	411	75
APC2	10297	broad.mit.edu	37	19	1466480	1466480	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1466480G>A	ENST00000535453.1	+	14	4893	c.3180G>A	c.(3178-3180)gcG>gcA	p.A1060A	APC2_ENST00000238483.4_Silent_p.A786A|APC2_ENST00000233607.2_Silent_p.A1060A|C19orf25_ENST00000588427.1_Intron			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	1060	5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.|Interaction with CTNNB1.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AACTGGCGGCGCAAGAGGGGC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													8	11	10			NA	NA	19		NA											NA				1466480		2017	4030	6047	SO:0001819	synonymous_variant				CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266	10297	10297		Armadillo repeat containing	24036	protein-coding gene	gene with protein product	adenomatous polyposis coli like	612034			NA	9823329, 10021369	Standard	NM_005883	XM_005259475	NA	Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.3180G>A	19.37:g.1466480G>A		NA	Q05BW4|Q9UBZ1|Q9UEM8|Q9UQJ8|Q9UQJ9|Q9Y632	37	CCDS12068.1																																																																																			APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449539.2		+	ENST00000535453.1	Silent	SNP	19 : 1466480 - 1466480 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	137	25
KIAA1841	84542	broad.mit.edu	37	2	61304140	61304140	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61304140A>G	ENST00000402291.1	+	6	758	c.517A>G	c.(517-519)Atg>Gtg	p.M173V	KIAA1841_ENST00000295031.5_Missense_Mutation_p.M173V|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000453873.1_Missense_Mutation_p.M173V|KIAA1841_ENST00000356719.2_Missense_Mutation_p.M173V	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	173										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GATATCAGAAATGAAGTACTT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	93	92			NA	NA	2		NA											NA				61304140		2203	4300	6503	SO:0001583	missense			BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929	84542	84542			29387	protein-coding gene	gene with protein product					NA	11347906	Standard	NM_032506	NM_032506	NA	Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.517A>G	2.37:g.61304140A>G	ENSP00000385579:p.Met173Val	NA	Q49AF0|Q6ZND0|Q96JI6	37	CCDS46296.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.473755	0.84640	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.53270	0.1786	M	0.87900	2.915	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.994;0.997;0.994	T	0.61710	-0.7007	10	0.87932	D	0	-20.5762	16.013	0.80417	1.0:0.0:0.0:0.0	.	173;173;173	Q6NSI8-2;Q6NSI8;Q6NSI8-4	.;K1841_HUMAN;.	V	173	ENSP00000385579:M173V;ENSP00000295031:M173V;ENSP00000349154:M173V;ENSP00000416795:M173V	ENSP00000295031:M173V	M	+	1	0	KIAA1841	61157644	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.296000	0.96104	2.183000	0.69458	0.528000	0.53228	ATG	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325477.1		+	ENST00000402291.1	Missense_Mutation	SNP	2 : 61304140 - 61304140 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	612	105
IWS1	55677	broad.mit.edu	37	2	128252466	128252466	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128252466A>G	ENST00000295321.4	-	8	2040	c.1781T>C	c.(1780-1782)gTa>gCa	p.V594A	IWS1_ENST00000455721.2_3'UTR|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	594					transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GTGCATAACTACAGCAGGCAG	0.284		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	84	81			NA	NA	2		NA											NA				128252466		2201	4287	6488	SO:0001583	missense			AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166	55677	55677			25467	protein-coding gene	gene with protein product					NA		Standard	NM_017969	NM_017969	NA	Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.1781T>C	2.37:g.128252466A>G	ENSP00000295321:p.Val594Ala	NA	Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	37	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.198746	0.79015	.	.	ENSG00000163166	ENST00000295321;ENST00000433551	T	0.18016	2.24	5.82	5.82	0.92795	.	0.118708	0.56097	D	0.000027	T	0.38188	0.1031	M	0.71036	2.16	0.80722	D	1	P	0.51537	0.946	P	0.57720	0.826	T	0.11372	-1.0590	10	0.59425	D	0.04	-19.5794	16.1809	0.81898	1.0:0.0:0.0:0.0	.	594	Q96ST2	IWS1_HUMAN	A	594;547	ENSP00000295321:V594A	ENSP00000295321:V594A	V	-	2	0	IWS1	127968936	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	9.281000	0.95811	2.229000	0.72834	0.383000	0.25322	GTA	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254384.2		-	ENST00000295321.4	Missense_Mutation	SNP	2 : 128252466 - 128252466 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	365	40
NOTCH2NL	388677	broad.mit.edu	37	1	145281532	145281532	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145281532G>T	ENST00000369340.3	+	5	906	c.462G>T	c.(460-462)caG>caT	p.Q154H	NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.Q154H|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.Q154H|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.Q154H			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	154	EGF-like 5; calcium-binding (Potential).				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						GACACTGCCAGCATGGTGGCA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	180	178			NA	NA	1		NA											NA				145281532		2203	4298	6501	SO:0001583	missense				CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240	388677	388677			31862	protein-coding gene	gene with protein product			Notch homolog 2 (Drosophila) N-terminal like		NA	14673143	Standard	NM_203458	NM_203458	NA	Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.462G>T	1.37:g.145281532G>T	ENSP00000358346:p.Gln154His	NA	Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	37	CCDS909.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.332624	0.24167	.	.	ENSG00000213240	ENST00000362074;ENST00000344859;ENST00000369340	D;D;D	0.98437	-4.93;-4.93;-4.93	2.87	1.9	0.25705	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.91905	0.7437	L	0.39326	1.205	0.22171	N	0.99932	B;B	0.21381	0.028;0.055	B;B	0.27715	0.018;0.082	D	0.87636	0.2519	9	0.48119	T	0.1	.	4.6414	0.12550	0.3296:0.0:0.6704:0.0	.	154;154	Q7Z3S9-2;Q7Z3S9	.;NT2NL_HUMAN	H	154	ENSP00000354929:Q154H;ENSP00000344557:Q154H;ENSP00000358346:Q154H	ENSP00000344557:Q154H	Q	+	3	2	NOTCH2NL	143992889	0.965000	0.33210	0.991000	0.47740	0.926000	0.56050	0.108000	0.15396	0.497000	0.27926	0.400000	0.26472	CAG	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000038546.1		+	ENST00000369340.3	Missense_Mutation	SNP	1 : 145281532 - 145281532 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1676	81
SLC6A11	6538	broad.mit.edu	37	3	10974869	10974869	+	Silent	SNP	C	C	A	rs139042454		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10974869C>A	ENST00000254488.2	+	11	1470	c.1404C>A	c.(1402-1404)tcC>tcA	p.S468S		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	468					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		TCTTTGACTCCTATGCCGCCA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													226	182	197			NA	NA	3		NA											NA				10974869		2203	4300	6503	SO:0001819	synonymous_variant			S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164	6538	6538		Solute carriers	11044	protein-coding gene	gene with protein product	GABA transporter 3	607952	solute carrier family 6 (neurotransmitter transporter, GABA), member 11		NA	7874447	Standard	NM_014229	NM_014229	NA	Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1404C>A	3.37:g.10974869C>A		NA	B2R6U6	37	CCDS2602.1																																																																																			SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251927.1		+	ENST00000254488.2	Silent	SNP	3 : 10974869 - 10974869 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	664	104
GRB10	2887	broad.mit.edu	37	7	50685801	50685801	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50685801C>T	ENST00000403097.1	-	9	1575	c.795G>A	c.(793-795)caG>caA	p.Q265Q	GRB10_ENST00000439599.1_Silent_p.Q265Q|GRB10_ENST00000398812.2_Silent_p.Q271Q|GRB10_ENST00000406641.1_Silent_p.Q213Q|GRB10_ENST00000335866.3_Silent_p.Q213Q|GRB10_ENST00000401949.1_Silent_p.Q271Q|GRB10_ENST00000402578.1_Silent_p.Q213Q|GRB10_ENST00000407526.1_Silent_p.Q213Q|GRB10_ENST00000402497.1_Silent_p.Q213Q|GRB10_ENST00000398810.2_Silent_p.Q213Q|GRB10_ENST00000357271.5_Silent_p.Q271Q			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	271					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CATTTGACTGCTGGCACCAAG	0.403		NA							Russell-Silver syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	92	94			NA	NA	7		NA											NA				50685801		1846	4099	5945	SO:0001819	synonymous_variant	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070	2887	2887		Pleckstrin homology (PH) domain containing, SH2 domain containing	4564	protein-coding gene	gene with protein product		601523			NA		Standard		NM_005311	NA	Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000403097.1:c.795G>A	7.37:g.50685801C>T		NA	A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	37																																																																																				GRB10-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000319155.3		-	ENST00000403097.1	Silent	SNP	7 : 50685801 - 50685801 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	384	78
LAMA2	3908	broad.mit.edu	37	6	129781471	129781471	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129781471T>C	ENST00000421865.2	+	49	7041		c.e49+2			NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	NA					cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CACTGTCAGGTTAGTTGAGAT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	80	82			NA	NA	6		NA											NA				129781471		2203	4299	6502	SO:0001630	splice_region_variant			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569	3908	3908		Laminins	6482	protein-coding gene	gene with protein product	merosin, congenital muscular dystrophy	156225		LAMM	NA	2185464, 8294519	Standard		NM_000426	NA	Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.6992+2T>C	6.37:g.129781471T>C		NA	Q14736|Q5VUM2|Q93022	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	T	18.73	3.685813	0.68157	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4338	0.83864	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	LAMA2	129823164	1.000000	0.71417	0.949000	0.38748	0.500000	0.33767	7.694000	0.84235	2.270000	0.75569	0.533000	0.62120	.	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042180.1	Intron	+	ENST00000421865.2	Splice_Site	SNP	6 : 129781471 - 129781471 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	514	93
CEP120	153241	broad.mit.edu	37	5	122751810	122751810	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122751810C>T	ENST00000306467.5	-	3	519	c.215G>A	c.(214-216)cGt>cAt	p.R72H	CEP120_ENST00000328236.5_Missense_Mutation_p.R72H|CEP120_ENST00000395431.2_Missense_Mutation_p.R72H|CEP120_ENST00000306481.6_Missense_Mutation_p.R46H			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	72						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						GATAGGAGTACGCTGTAGCCT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	72	75			NA	NA	5		NA											NA				122751810		1839	4088	5927	SO:0001583	missense			AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944	153241	153241			26690	protein-coding gene	gene with protein product		613446	coiled-coil domain containing 100	CCDC100	NA	17920017	Standard	NM_153223	NM_153223	NA	Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.215G>A	5.37:g.122751810C>T	ENSP00000303058:p.Arg72His	NA	Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	37	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603365	0.87157	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442;ENST00000395431	T;T;T;T	0.56776	1.76;1.76;1.76;0.44	5.43	5.43	0.79202	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.73690	0.3619	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72265	-0.4344	10	0.38643	T	0.18	-13.5642	18.3703	0.90405	0.0:1.0:0.0:0.0	.	72	Q8N960	CE120_HUMAN	H	72;72;46;46;72	ENSP00000303058:R72H;ENSP00000327504:R72H;ENSP00000307419:R46H;ENSP00000421620:R46H	ENSP00000303058:R72H	R	-	2	0	CEP120	122779709	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	6.807000	0.75201	2.700000	0.92200	0.655000	0.94253	CGT	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250899.2		-	ENST00000306467.5	Missense_Mutation	SNP	5 : 122751810 - 122751810 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	164	26
HUWE1	10075	broad.mit.edu	37	X	53579602	53579602	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53579602T>C	ENST00000342160.3	-	61	9204	c.8747A>G	c.(8746-8748)gAc>gGc	p.D2916G	HUWE1_ENST00000262854.6_Missense_Mutation_p.D2916G			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2916					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGCTTACCTGTCCTCAGGTGG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	75	74			NA	NA	X		NA											NA				53579602		2201	4298	6499	SO:0001583	missense			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758	10075	10075			30892	protein-coding gene	gene with protein product		300697	HECT, UBA and WWE domain containing 1		NA	9205841, 10998601	Standard	XM_497119	NM_031407	NA	Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.8747A>G	X.37:g.53579602T>C	ENSP00000340648:p.Asp2916Gly	NA	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	T	10.91	1.484049	0.26598	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.38077	1.16;1.16	6.08	6.08	0.98989	.	0.451805	0.25774	N	0.028384	T	0.20981	0.0505	N	0.14661	0.345	0.36000	D	0.837342	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.24119	-1.0169	10	0.25751	T	0.34	.	9.0556	0.36403	0.0:0.0833:0.0:0.9167	.	2916;2916	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	G	2916	ENSP00000340648:D2916G;ENSP00000262854:D2916G	ENSP00000262854:D2916G	D	-	2	0	HUWE1	53596327	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	2.535000	0.45685	2.058000	0.61347	0.486000	0.48141	GAC	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056766.1		-	ENST00000342160.3	Missense_Mutation	SNP	X : 53579602 - 53579602 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	510	162
ALPK1	80216	broad.mit.edu	37	4	113303625	113303625	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113303625A>G	ENST00000458497.1	+	4	472	c.193A>G	c.(193-195)Aag>Gag	p.K65E	ALPK1_ENST00000504176.2_Intron|ALPK1_ENST00000177648.9_Missense_Mutation_p.K65E	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	65							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CGTGCCTGAAAAGTGGCAGTA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	74	78			NA	NA	4		NA											NA				113303625		2203	4300	6503	SO:0001583	missense			AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331	80216	80216			20917	protein-coding gene	gene with protein product	lymphocyte alpha-kinase	607347			NA	10021370, 10819331	Standard	NM_025144	NM_025144	NA	Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.193A>G	4.37:g.113303625A>G	ENSP00000398048:p.Lys65Glu	NA	Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	37	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.406216	0.83230	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000309610	T;T	0.25085	1.82;1.82	5.63	5.63	0.86233	.	0.048760	0.85682	D	0.000000	T	0.49898	0.1584	M	0.73598	2.24	0.80722	D	1	P;D;D	0.69078	0.925;0.997;0.99	P;P;P	0.62740	0.54;0.906;0.768	T	0.54384	-0.8302	10	0.87932	D	0	-26.2083	15.839	0.78831	1.0:0.0:0.0:0.0	.	40;65;65	E7EX13;Q96QP1;B3KUH8	.;ALPK1_HUMAN;.	E	65;65;40	ENSP00000398048:K65E;ENSP00000177648:K65E	ENSP00000177648:K65E	K	+	1	0	ALPK1	113523074	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.470000	0.73558	2.130000	0.65690	0.533000	0.62120	AAG	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256421.2		+	ENST00000458497.1	Missense_Mutation	SNP	4 : 113303625 - 113303625 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	288	51
ZNF730	100129543	broad.mit.edu	37	19	23329254	23329254	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23329254C>T	ENST00000597761.2	+	4	1607	c.1408C>T	c.(1408-1410)Cat>Tat	p.H470Y		NM_001277403.1	NP_001264332.1			zinc finger protein 730	NA										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						CCTCACTACACATAAGATAAT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			AK131472	CCDS59371.1	19p12	2013-01-08			ENSG00000183850	ENSG00000183850	100129543	100129543		Zinc fingers, C2H2-type, -	32470	protein-coding gene	gene with protein product					NA		Standard	XM_001719792	NM_001277403	NA	Approved		uc031rkc.1	Q6ZMV8		ENST00000597761.2:c.1408C>T	19.37:g.23329254C>T	ENSP00000472959:p.His470Tyr	NA		37	CCDS59371.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.737975	0.49045	.	.	ENSG00000183850	ENST00000327867	.	.	.	0.828	0.828	0.18841	.	.	.	.	.	T	0.71350	0.3329	M	0.89478	3.035	0.33523	D	0.592681	.	.	.	.	.	.	T	0.77640	-0.2512	6	0.87932	D	0	.	8.5611	0.33511	0.0:1.0:0.0:0.0	.	.	.	.	Y	470	.	ENSP00000329365:H470Y	H	+	1	0	ZNF730	23121094	0.995000	0.38212	0.036000	0.18154	0.035000	0.12851	5.232000	0.65332	0.291000	0.22468	0.297000	0.19635	CAT	ZNF730-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465737.2		+	ENST00000597761.2	Missense_Mutation	SNP	19 : 23329254 - 23329254 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	168	36
VPS13B	157680	broad.mit.edu	37	8	100523350	100523350	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:100523350G>A	ENST00000358544.2	+	29	4429	c.4318G>A	c.(4318-4320)Gat>Aat	p.D1440N	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.D1415N	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1440					protein transport			p.D1440H(1)|p.D1415H(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAAACTTCTAGATGGCACTCA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(161;2205 2542 7338 31318)							NA				2	Substitution - Missense(2)	lung(2)											76	79	78			NA	NA	8		NA											NA				100523350		2203	4300	6503	SO:0001583	missense			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549	157680	157680			2183	protein-coding gene	gene with protein product		607817	Cohen syndrome 1	CHS1, COH1	NA	7920642, 15498460	Standard	NM_184042	NM_181661	NA	Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.4318G>A	8.37:g.100523350G>A	ENSP00000351346:p.Asp1440Asn	NA	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548074	0.65311	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.40225	1.04;1.04	5.42	5.42	0.78866	.	0.127271	0.53938	D	0.000046	T	0.51398	0.1672	L	0.40543	1.245	0.80722	D	1	D;P;P	0.56746	0.977;0.873;0.877	P;P;P	0.54499	0.754;0.599;0.494	T	0.51204	-0.8735	10	0.62326	D	0.03	.	19.577	0.95449	0.0:0.0:1.0:0.0	.	1439;1415;1440	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8	.;.;VP13B_HUMAN	N	1415;1440	ENSP00000349685:D1415N;ENSP00000351346:D1440N	ENSP00000349685:D1415N	D	+	1	0	VPS13B	100592526	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.537000	0.98070	2.705000	0.92388	0.484000	0.47621	GAT	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277138.1		+	ENST00000358544.2	Missense_Mutation	SNP	8 : 100523350 - 100523350 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	482	74
GSTA2	2939	broad.mit.edu	37	6	52617718	52617718	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52617718T>C	ENST00000493422.1	-	5	503	c.348A>G	c.(346-348)gaA>gaG	p.E116E		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	116	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	TGGCATCTTGTTCCTCAGGTT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													233	222	226			NA	NA	6		NA											NA				52617718		2203	4300	6503	SO:0001819	synonymous_variant			AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2939	2939	2.5.1.18	Glutathione S-transferases / Soluble	4627	protein-coding gene	gene with protein product		138360	glutathione S-transferase A2	GST2	NA		Standard	NM_000846	NM_000846	NA	Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.348A>G	6.37:g.52617718T>C		NA	Q12759|Q16491|Q9NTY6	37	CCDS4944.1																																																																																			GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043589.1		-	ENST00000493422.1	Silent	SNP	6 : 52617718 - 52617718 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1379	57
LIN7A	8825	broad.mit.edu	37	12	81205351	81205351	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81205351G>A	ENST00000552864.1	-	5	797	c.595C>T	c.(595-597)Cgc>Tgc	p.R199C		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	199					exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						TTTTCAAAGCGAGCCTCCATT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	94	98			NA	NA	12		NA											NA				81205351		2203	4300	6503	SO:0001583	missense			AF028826	CCDS9021.1	12q21.31	2014-09-04			ENSG00000111052	ENSG00000111052	8825	8825			17787	protein-coding gene	gene with protein product	mammalian LIN-7 1	603380			NA	10341223, 17237226	Standard		NM_004664	NA	Approved	MALS-1, TIP-33, LIN-7A, VELI1	uc001szj.1	O14910	OTTHUMG00000170168	ENST00000552864.1:c.595C>T	12.37:g.81205351G>A	ENSP00000447488:p.Arg199Cys	NA	A4FTY3|Q147W1|Q6LES3|Q7LDS4	37	CCDS9021.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332630	0.81801	.	.	ENSG00000111052	ENST00000552864	T	0.20881	2.04	5.28	4.39	0.52855	PDZ/DHR/GLGF (1);	0.050845	0.85682	D	0.000000	T	0.37404	0.1002	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.16394	-1.0404	10	0.87932	D	0	-9.3904	13.9247	0.63955	0.0733:0.0:0.9267:0.0	.	199	O14910	LIN7A_HUMAN	C	199	ENSP00000447488:R199C	ENSP00000447488:R199C	R	-	1	0	LIN7A	79729482	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	7.874000	0.87199	1.234000	0.43709	0.591000	0.81541	CGC	LIN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407760.1		-	ENST00000552864.1	Missense_Mutation	SNP	12 : 81205351 - 81205351 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	243	41
PICALM	8301	broad.mit.edu	37	11	85733411	85733411	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85733411C>A	ENST00000526033.1	-	4	767	c.451G>T	c.(451-453)Ggg>Tgg	p.G151W	PICALM_ENST00000528398.1_Splice_Site_p.G100W|PICALM_ENST00000356360.5_Splice_Site_p.G151W|PICALM_ENST00000393346.3_Splice_Site_p.G151W|PICALM_ENST00000532317.1_Splice_Site_p.G151W	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	151					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TTAACTCACCCTCTCTTCACT	0.279		NA	T	MLLT10, MLL	TALL, AML, 									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		11	11q14	8301	phosphatidylinositol binding clathrin assembly protein (CALM)		L	0													93	94	94			NA	NA	11		NA											NA				85733411		2202	4292	6494	SO:0001630	splice_region_variant			BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921	8301	8301			15514	protein-coding gene	gene with protein product		603025			NA	8643484	Standard	NM_007166	NM_001206947	NA	Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000526033.1:c.452+1G>T	11.37:g.85733411C>A		NA	O60700|Q6GMQ6|Q86XZ9	37	CCDS55784.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686847	0.88639	.	.	ENSG00000073921	ENST00000532317;ENST00000526033;ENST00000447890;ENST00000393346;ENST00000528398;ENST00000356360;ENST00000531930;ENST00000525162;ENST00000528256	T;T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.34	5.34	0.76211	ANTH (1);	0.000000	0.85682	D	0.000000	T	0.65176	0.2666	M	0.90198	3.095	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	T	0.72184	-0.4367	9	.	.	.	-9.3463	19.1015	0.93276	0.0:1.0:0.0:0.0	.	100;151;151;151	E9PN05;F8VPG7;Q13492;Q13492-3	.;.;PICAL_HUMAN;.	W	151;151;151;151;100;151;117;100;117	ENSP00000436958:G151W;ENSP00000433846:G151W;ENSP00000377015:G151W;ENSP00000434884:G100W;ENSP00000348718:G151W;ENSP00000433303:G117W;ENSP00000436508:G100W;ENSP00000431545:G117W	.	G	-	1	0	PICALM	85411059	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.665000	0.83852	2.504000	0.84457	0.461000	0.40582	GGG	PICALM-001	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392221.1	Missense_Mutation	-	ENST00000526033.1	Splice_Site	SNP	11 : 85733411 - 85733411 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	79
PPP1R9A	55607	broad.mit.edu	37	7	94879459	94879459	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94879459C>A	ENST00000433360.1	+	10	2570	c.2288C>A	c.(2287-2289)aCa>aAa	p.T763K	PPP1R9A_ENST00000433881.1_Missense_Mutation_p.T741K|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.T741K|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.T741K|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.T741K|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.T741K	NM_001166160.1	NP_001159632.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	741	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GAGGCCCAAACATTATGCCAC	0.393		NA								HNSCC(28;0.073)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	86	89			NA	NA	7		NA											NA				94879459		2203	4300	6503	SO:0001583	missense			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528	55607	55607		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Sterile alpha motif (SAM) domain containing	14946	protein-coding gene	gene with protein product		602468	protein phosphatase 1, regulatory (inhibitor) subunit 9A		NA	10574462	Standard	NM_001166160	NM_001166160	NA	Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433360.1:c.2288C>A	7.37:g.94879459C>A	ENSP00000405514:p.Thr763Lys	NA	O76059|Q9NXT2	37	CCDS55127.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243814	0.39697	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.14640	2.49;2.53;2.51;2.53;2.51;2.51	5.22	3.29	0.37713	.	0.054644	0.64402	D	0.000001	T	0.27384	0.0672	L	0.47716	1.5	0.47698	D	0.999495	B;D;B;D;D	0.69078	0.201;0.964;0.302;0.997;0.968	B;P;B;P;P	0.61874	0.053;0.79;0.153;0.895;0.554	T	0.04454	-1.0950	10	0.42905	T	0.14	.	16.3956	0.83604	0.0:0.7534:0.2466:0.0	.	741;741;763;741;741	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	K	763;741;741;741;741;741	ENSP00000405514:T763K;ENSP00000344524:T741K;ENSP00000411342:T741K;ENSP00000398870:T741K;ENSP00000289495:T741K;ENSP00000402893:T741K	ENSP00000289495:T741K	T	+	2	0	PPP1R9A	94717395	1.000000	0.71417	0.739000	0.30968	0.019000	0.09904	4.778000	0.62368	1.568000	0.49683	-0.165000	0.13383	ACA	PPP1R9A-003	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340664.1		+	ENST00000433360.1	Missense_Mutation	SNP	7 : 94879459 - 94879459 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	244	43
KRT38	8687	broad.mit.edu	37	17	39593734	39593734	+	Missense_Mutation	SNP	C	C	T	rs140093590		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39593734C>T	ENST00000246646.3	-	7	1300	c.1301G>A	c.(1300-1302)cGc>cAc	p.R434H		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	434	Tail.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				ACAGCTTGGGCGAGGAGCACA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG	1,4405		0,1,2202	30	27	28		1301	2.3	0.1	17	dbSNP_134	28	2,8598		0,2,4298	yes	missense	KRT38	NM_006771.3	29	0,3,6500	TT,TC,CC	NA	0.0233,0.0227,0.0231	probably-damaging	434/457	39593734	3,13003	2203	4300	6503	SO:0001583	missense			Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360	8687	8687		-, Intermediate filaments type I, keratins (acidic)	6456	protein-coding gene	gene with protein product		604542	keratin, hair, acidic, 8	KRTHA8	NA	9756910, 16831889	Standard	NM_006771	NM_006771	NA	Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.1301G>A	17.37:g.39593734C>T	ENSP00000246646:p.Arg434His	NA	A2RRM5|Q6A164	37	CCDS11392.1	.	.	.	.	.	.	.	.	.	.	.	10.74	1.436051	0.25813	2.27E-4	2.33E-4	ENSG00000171360	ENST00000246646	D	0.81996	-1.56	2.26	2.26	0.28386	.	0.524430	0.16004	N	0.234168	T	0.65333	0.2681	N	0.08118	0	0.09310	N	1	P	0.39551	0.678	B	0.39258	0.295	T	0.58607	-0.7607	10	0.45353	T	0.12	.	8.0817	0.30748	0.0:1.0:0.0:0.0	.	434	O76015	KRT38_HUMAN	H	434	ENSP00000246646:R434H	ENSP00000246646:R434H	R	-	2	0	KRT38	36847260	0.000000	0.05858	0.137000	0.22149	0.008000	0.06430	-0.087000	0.11215	1.606000	0.50161	0.561000	0.74099	CGC	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257307.2		-	ENST00000246646.3	Missense_Mutation	SNP	17 : 39593734 - 39593734 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	89	18
RDX	5962	broad.mit.edu	37	11	110128544	110128544	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110128544A>C	ENST00000528498.1	-	7	955	c.646T>G	c.(646-648)Ttg>Gtg	p.L216V	RDX_ENST00000405097.1_Missense_Mutation_p.L216V|RDX_ENST00000528900.1_Intron|RDX_ENST00000530301.1_Intron|RDX_ENST00000343115.4_Missense_Mutation_p.L216V|RDX_ENST00000544551.1_Missense_Mutation_p.L80V	NM_001260493.1	NP_001247422.1	P35241	RADI_HUMAN	radixin	216	FERM.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		CCTAGCCACAATTCAGTTCCT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(55;25 1062 11040 28755 44273)							NA				0													115	117	116			NA	NA	11		NA											NA				110128544		2201	4298	6499	SO:0001583	missense			BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710	5962	5962			9944	protein-coding gene	gene with protein product		179410	deafness, autosomal recessive 24	DFNB24	NA	8486357, 17226784	Standard	NM_002906	NM_001260492	NA	Approved		uc031qdy.1	P35241		ENST00000528498.1:c.646T>G	11.37:g.110128544A>C	ENSP00000432112:p.Leu216Val	NA	Q86Y61	37	CCDS58174.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.871122	0.51695	.	.	ENSG00000137710	ENST00000528498;ENST00000429481;ENST00000405097;ENST00000343115;ENST00000544551;ENST00000534683	D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4	5.32	1.79	0.24919	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000001	D	0.91019	0.7175	L	0.56124	1.755	0.58432	D	0.999992	B;D;B	0.67145	0.129;0.996;0.037	B;D;P	0.91635	0.099;0.999;0.461	D	0.87955	0.2726	10	0.52906	T	0.07	.	8.0771	0.30722	0.6908:0.0:0.3092:0.0	.	80;216;216	F5H1A7;A7YIJ8;P35241	.;.;RADI_HUMAN	V	216;216;216;216;80;35	ENSP00000432112:L216V;ENSP00000384136:L216V;ENSP00000342830:L216V;ENSP00000445826:L80V;ENSP00000431560:L35V	ENSP00000342830:L216V	L	-	1	2	RDX	109633754	0.982000	0.34865	0.995000	0.50966	0.988000	0.76386	1.566000	0.36396	0.056000	0.16144	-0.280000	0.10049	TTG	RDX-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390531.1		-	ENST00000528498.1	Missense_Mutation	SNP	11 : 110128544 - 110128544 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	646	132
OSBPL5	114879	broad.mit.edu	37	11	3128610	3128610	+	Silent	SNP	G	G	A	rs144743928		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3128610G>A	ENST00000263650.7	-	9	1101	c.942C>T	c.(940-942)acC>acT	p.T314T	OSBPL5_ENST00000525498.1_Silent_p.T225T|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000348039.5_Silent_p.T246T|OSBPL5_ENST00000389989.3_Silent_p.T246T	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	314					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCTGGGTCTCGGTATCTGACT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,,	0,4404		0,0,2202	167	167	167		738,942,738	-9	0	11	dbSNP_134	167	2,8594	2.2+/-6.3	0,2,4296	no	coding-synonymous,coding-synonymous,coding-synonymous	OSBPL5	NM_001144063.1,NM_020896.3,NM_145638.2	,,	0,2,6498	AA,AG,GG	NA	0.0233,0.0,0.0154	,,	246/812,314/880,246/812	3128610	2,12998	2202	4298	6500	SO:0001819	synonymous_variant			AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762	114879	114879		Oxysterol binding proteins, Pleckstrin homology (PH) domain containing	16392	protein-coding gene	gene with protein product		606733			NA		Standard		NM_145638	NA	Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.942C>T	11.37:g.3128610G>A		NA	A6NJS8|Q54A90|Q9BZB0|Q9P1Z4	37	CCDS31344.1																																																																																			OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032332.2		-	ENST00000263650.7	Silent	SNP	11 : 3128610 - 3128610 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1350	250
USP49	25862	broad.mit.edu	37	6	41774184	41774184	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41774184G>A	ENST00000394253.3	-	3	867	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	USP49_ENST00000373006.1_Missense_Mutation_p.R180C|USP49_ENST00000373009.3_Missense_Mutation_p.R180C|USP49_ENST00000297229.2_Missense_Mutation_p.R180C|USP49_ENST00000373010.1_Missense_Mutation_p.R180C			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	180					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCCTTCTTGCGCTCCAGGGCC	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													8	10	9			NA	NA	6		NA											NA				41774184		2110	4116	6226	SO:0001583	missense			AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663	25862	25862		Ubiquitin-specific peptidases	20078	protein-coding gene	gene with protein product			ubiquitin specific protease 49		NA	14715245	Standard	NM_018561	NM_018561	NA	Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.538C>T	6.37:g.41774184G>A	ENSP00000377797:p.Arg180Cys	NA	Q5T3D9|Q5T3E0|Q96CK4	37		.	.	.	.	.	.	.	.	.	.	G	10.37	1.330258	0.24167	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.07567	3.67;3.18;3.67;3.44;3.44	4.29	2.28	0.28536	.	0.238802	0.35615	N	0.003088	T	0.05502	0.0145	L	0.29908	0.895	0.43435	D	0.995605	D	0.57257	0.979	P	0.52710	0.707	T	0.29852	-0.9998	10	0.66056	D	0.02	-12.386	10.509	0.44851	0.0:0.0:0.4072:0.5928	.	180	Q70CQ1-2	.	C	180	ENSP00000377797:R180C;ENSP00000362101:R180C;ENSP00000362100:R180C;ENSP00000362097:R180C;ENSP00000297229:R180C	ENSP00000297229:R180C	R	-	1	0	USP49	41882162	0.988000	0.35896	0.999000	0.59377	0.016000	0.09150	2.116000	0.41930	0.995000	0.38917	-0.169000	0.13324	CGC	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000316513.3		-	ENST00000394253.3	Missense_Mutation	SNP	6 : 41774184 - 41774184 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	150	27
WRAP73	49856	broad.mit.edu	37	1	3564022	3564022	+	Missense_Mutation	SNP	C	C	T	rs138332031		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3564022C>T	ENST00000378322.3	-	2	230	c.172G>A	c.(172-174)Gca>Aca	p.A58T	WRAP73_ENST00000270708.7_Missense_Mutation_p.A58T			Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	58						centrosome	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						AGCGAGTCTGCCGACCACTCG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	84	94			NA	NA	1		NA											NA				3564022		2202	4300	6502	SO:0001583	missense			AB034912, EF494669	CCDS48.1	1p36.3	2013-05-21	2011-04-13	2011-04-13	ENSG00000116213	ENSG00000116213	49856	49856		WD repeat domain containing	12759	protein-coding gene	gene with protein product		606040	WD repeat domain 8	WDR8	NA		Standard		NM_017818	NA	Approved		uc001ako.3	Q9P2S5	OTTHUMG00000000612	ENST00000378322.3:c.172G>A	1.37:g.3564022C>T	ENSP00000367573:p.Ala58Thr	NA	Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	37		.	.	.	.	.	.	.	.	.	.	C	11.23	1.577458	0.28180	.	.	ENSG00000116213	ENST00000270708;ENST00000378322;ENST00000424367;ENST00000419924	T;T;T	0.41400	1.0;1.0;1.0	5.13	5.13	0.70059	Six-bladed beta-propeller, TolB-like (1);	0.051689	0.85682	D	0.000000	T	0.28366	0.0701	N	0.14661	0.345	0.41919	D	0.990501	B;P;P	0.40578	0.259;0.722;0.707	B;B;B	0.40066	0.108;0.118;0.318	T	0.12734	-1.0536	10	0.54805	T	0.06	-28.5879	11.7614	0.51905	0.2782:0.7218:0.0:0.0	.	58;58;58	B4DYE9;Q9P2S5;Q5T0D5	.;WRP73_HUMAN;.	T	58	ENSP00000270708:A58T;ENSP00000367573:A58T;ENSP00000416192:A58T	ENSP00000270708:A58T	A	-	1	0	WRAP73	3553882	1.000000	0.71417	0.225000	0.23894	0.238000	0.25445	4.581000	0.60949	2.519000	0.84933	0.655000	0.94253	GCA	WRAP73-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000001471.1		-	ENST00000378322.3	Missense_Mutation	SNP	1 : 3564022 - 3564022 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	144	21
ZYX	7791	broad.mit.edu	37	7	143085748	143085748	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143085748C>T	ENST00000322764.5	+	7	1656	c.1311C>T	c.(1309-1311)taC>taT	p.Y437Y	ZYX_ENST00000392910.2_Silent_p.Y280Y|ZYX_ENST00000449423.2_Silent_p.Y350Y	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	437	LIM zinc-binding 1.				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					AGGGCTGTTACACTGTGAGTC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	69	68			NA	NA	7		NA											NA				143085748		2203	4300	6503	SO:0001819	synonymous_variant			X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840	7791	7791			13200	protein-coding gene	gene with protein product		602002			NA	8917469, 8940160	Standard	NM_003461	XM_005250052	NA	Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.1311C>T	7.37:g.143085748C>T		NA	A4D2G6|Q6I9S4	37	CCDS5883.1																																																																																			ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000156296.2		+	ENST00000322764.5	Silent	SNP	7 : 143085748 - 143085748 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	372	11
TUBB4A	10382	broad.mit.edu	37	19	6495205	6495205	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6495205G>A	ENST00000264071.2	-	4	1676	c.1305C>T	c.(1303-1305)ttC>ttT	p.F435F	TUBB4A_ENST00000540257.1_Silent_p.F435F			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	435					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity				NA						CCTCCTCCTCGAACTCGCCCT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	66	68			NA	NA	19		NA											NA				6495205		2203	4300	6503	SO:0001819	synonymous_variant			AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833	10382	10382		Tubulins	20774	protein-coding gene	gene with protein product	class IVa beta-tubulin	602662	tubulin, beta 4, tubulin, beta 4 class IVa, dystonia 4, torsion (autosomal dominant)	TUBB4, DYT4	NA	6865944, 6462917, 23595291	Standard	NM_006087	NM_001289123	NA	Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.1305C>T	19.37:g.6495205G>A		NA	B3KQP4|Q969E5	37	CCDS12168.1																																																																																			TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457841.1		-	ENST00000264071.2	Silent	SNP	19 : 6495205 - 6495205 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	587	109
RMND5B	64777	broad.mit.edu	37	5	177569660	177569660	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177569660G>A	ENST00000515098.1	+	5	567	c.216G>A	c.(214-216)gtG>gtA	p.V72V	RMND5B_ENST00000542098.1_Silent_p.V59V|RMND5B_ENST00000313386.4_Silent_p.V72V			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	72										endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGATACGGTGCAGAAACTGG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	108	109			NA	NA	5		NA											NA				177569660		2203	4300	6503	SO:0001819	synonymous_variant			BC009911	CCDS4431.1, CCDS75382.1	5q35.3	2012-07-20			ENSG00000145916	ENSG00000145916	64777	64777			26181	protein-coding gene	gene with protein product	GID complex subunit 2 homolog B				NA	12975309	Standard	NM_022762	NM_022762	NA	Approved	FLJ22318, GID2, GID2B	uc003mim.3	Q96G75	OTTHUMG00000130897	ENST00000515098.1:c.216G>A	5.37:g.177569660G>A		NA	Q1HE27|Q6UVY7|Q9H6F6	37	CCDS4431.1																																																																																			RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373542.1		+	ENST00000515098.1	Silent	SNP	5 : 177569660 - 177569660 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	722	195
HDX	139324	broad.mit.edu	37	X	83724135	83724135	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:83724135T>G	ENST00000297977.5	-	3	707	c.596A>C	c.(595-597)aAc>aCc	p.N199T	HDX_ENST00000373177.2_Missense_Mutation_p.N199T|HDX_ENST00000506585.2_Missense_Mutation_p.N141T	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	199						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TACTGAAGAGTTTCCATAGTT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(53;231 1169 36156 43751 51139)							NA				0													138	123	128			NA	NA	X		NA											NA				83724135		2203	4300	6503	SO:0001583	missense			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259	139324	139324		Homeoboxes / POU class	26411	protein-coding gene	gene with protein product			chromosome X open reading frame 43	CXorf43	NA		Standard	NM_144657	NM_144657	NA	Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.596A>C	X.37:g.83724135T>G	ENSP00000297977:p.Asn199Thr	NA	A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	37	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	T	0.032	-1.330907	0.01298	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585;ENST00000449553	T;T;T;T	0.41400	1.55;1.6;1.55;1.0	4.9	2.82	0.32997	.	0.459886	0.24970	N	0.034148	T	0.17831	0.0428	N	0.14661	0.345	0.20873	N	0.999837	B	0.17038	0.02	B	0.14023	0.01	T	0.30563	-0.9974	10	0.05351	T	0.99	-25.6574	4.4455	0.11595	0.1664:0.6086:0.0:0.225	.	199	Q7Z353	HDX_HUMAN	T	199;141;199;141	ENSP00000297977:N199T;ENSP00000362272:N141T;ENSP00000423670:N199T;ENSP00000387790:N141T	ENSP00000297977:N199T	N	-	2	0	HDX	83610791	0.997000	0.39634	0.977000	0.42913	0.983000	0.72400	0.835000	0.27531	0.380000	0.24823	-0.502000	0.04539	AAC	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057379.2		-	ENST00000297977.5	Missense_Mutation	SNP	X : 83724135 - 83724135 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	607	32
ANKS1A	23294	broad.mit.edu	37	6	34953057	34953057	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34953057T>G	ENST00000360359.3	+	8	1347		c.e8+2		ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	NA						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GTGAGGCCTGTATGTGACCCG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	49	49			NA	NA	6		NA											NA				34953057		2203	4300	6503	SO:0001630	splice_region_variant			D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999	23294	23294		Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	20961	protein-coding gene	gene with protein product		608994	ankyrin repeat and SAM domain containing 1, ankyrin repeat and sterile alpha motif domain containing 1	ANKS1	NA	9039502	Standard	XM_166478	NM_015245	NA	Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.1209+2T>G	6.37:g.34953057T>G		NA	A2RUC1|Q5JYI9|Q5SYR2|Q86WQ7	37	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.054514	0.75960	.	.	ENSG00000064999	ENST00000544150;ENST00000360359	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6019	0.68447	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKS1A	35061035	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.896000	0.63222	2.180000	0.69256	0.533000	0.62120	.	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040262.1	Intron	+	ENST00000360359.3	Splice_Site	SNP	6 : 34953057 - 34953057 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	307	23
MMP26	56547	broad.mit.edu	37	11	5013323	5013323	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5013323C>T	ENST00000380390.1	+	6	941	c.725C>T	c.(724-726)gCc>gTc	p.A242V	MMP26_ENST00000300762.1_Missense_Mutation_p.A242V			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	242					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		CAGCTCAGTGCCGATGATATC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	76	79			NA	NA	11		NA											NA				5013323		2201	4298	6499	SO:0001583	missense			AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	56547	56547	3.4.24.1		14249	protein-coding gene	gene with protein product	matrilysin 2	605470	matrix metalloproteinase 26		NA	10801841, 10824119	Standard	NM_021801	NM_021801	NA	Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.725C>T	11.37:g.5013323C>T	ENSP00000369753:p.Ala242Val	NA	Q3MJ78|Q9GZS2|Q9NR87	37	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	C	5.006	0.186778	0.09547	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.21361	2.01;2.01	3.67	-7.35	0.01422	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	3.244940	0.01367	N	0.012424	T	0.09247	0.0228	N	0.13003	0.285	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.20605	-1.0270	10	0.18710	T	0.47	2.2155	2.3356	0.04247	0.4996:0.2435:0.0974:0.1596	.	242	Q9NRE1	MMP26_HUMAN	V	242	ENSP00000369753:A242V;ENSP00000300762:A242V	ENSP00000300762:A242V	A	+	2	0	MMP26	4969899	0.000000	0.05858	0.023000	0.16930	0.100000	0.18952	0.191000	0.17076	-2.462000	0.00535	-0.310000	0.09108	GCC	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000142058.3		+	ENST00000380390.1	Missense_Mutation	SNP	11 : 5013323 - 5013323 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	24
DIEXF	27042	broad.mit.edu	37	1	210004254	210004254	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210004254A>G	ENST00000491415.2	+	3	311	c.254A>G	c.(253-255)gAa>gGa	p.E85G		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	85	Glu-rich.				multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						GTTTCTgaggaagaagaggaa	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	94	97			NA	NA	1		NA											NA				210004254		2203	4300	6503	SO:0001583	missense			BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597	27042	27042			28440	protein-coding gene	gene with protein product			chromosome 1 open reading frame 107	C1orf107	NA	16322560	Standard	NM_014388	NM_014388	NA	Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.254A>G	1.37:g.210004254A>G	ENSP00000419005:p.Glu85Gly	NA	O75992|Q4VY00|Q63HL9	37	CCDS1493.1	.	.	.	.	.	.	.	.	.	.	A	12.46	1.943940	0.34283	.	.	ENSG00000117597	ENST00000491415	T	0.49432	0.78	3.63	3.63	0.41609	.	1.108070	0.06638	N	0.760577	T	0.46210	0.1381	M	0.61703	1.905	0.34868	D	0.743271	B	0.12630	0.006	B	0.08055	0.003	T	0.47275	-0.9130	10	0.36615	T	0.2	-3.4558	8.1725	0.31262	0.7137:0.2863:0.0:0.0	.	85	Q68CQ4	DIEXF_HUMAN	G	85	ENSP00000419005:E85G	ENSP00000419005:E85G	E	+	2	0	DIEXF	208070877	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	4.775000	0.62346	1.427000	0.47276	0.533000	0.62120	GAA	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089127.2		+	ENST00000491415.2	Missense_Mutation	SNP	1 : 210004254 - 210004254 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	71
NPBWR1	2831	broad.mit.edu	37	8	53852661	53852661	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:53852661C>T	ENST00000331251.3	+	1	1671	c.194C>T	c.(193-195)gCg>gTg	p.A65V		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	65					synaptic transmission	plasma membrane	opioid receptor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				TTGCTGCGGGCGCCCCGCATG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	39	43			NA	NA	8		NA											NA				53852661		2203	4300	6503	SO:0001583	missense			BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729	2831	2831		GPCR / Class A : Neuropeptide receptors : W/B	4522	protein-coding gene	gene with protein product		600730	G protein-coupled receptor 7	GPR7	NA	7590751, 12401809	Standard	NM_005285	NM_005285	NA	Approved		uc011ldu.2	P48145		ENST00000331251.3:c.194C>T	8.37:g.53852661C>T	ENSP00000330284:p.Ala65Val	NA	Q6NTC7	37	CCDS6151.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.778037	0.70107	.	.	ENSG00000183729	ENST00000331251	T	0.72282	-0.64	4.74	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.114616	0.37012	N	0.002294	T	0.69869	0.3159	M	0.71581	2.175	0.41409	D	0.987729	P	0.35527	0.507	B	0.34590	0.186	T	0.74435	-0.3666	10	0.66056	D	0.02	.	14.9469	0.71039	0.0:0.8562:0.1438:0.0	.	65	P48145	NPBW1_HUMAN	V	65	ENSP00000330284:A65V	ENSP00000330284:A65V	A	+	2	0	NPBWR1	54015214	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.428000	0.80296	1.197000	0.43143	0.655000	0.94253	GCG	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378047.1		+	ENST00000331251.3	Missense_Mutation	SNP	8 : 53852661 - 53852661 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	215	32
PHC1	1911	broad.mit.edu	37	12	9089850	9089850	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9089850C>T	ENST00000433083.2	+	12	2566	c.2421C>T	c.(2419-2421)cgC>cgT	p.R807R	PHC1_ENST00000544916.1_Silent_p.R852R|PHC1_ENST00000536844.1_Silent_p.R458R|PHC1_ENST00000543824.1_Silent_p.R852R			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	852					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						ACTATGCTCGCGTTCGCAGGC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	31	31			NA	NA	12		NA											NA				9089850		2202	4286	6488	SO:0001819	synonymous_variant			U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752	1911	1911		Sterile alpha motif (SAM) domain containing	3182	protein-coding gene	gene with protein product		602978	early development regulator 1 (homolog of polyhomeotic 1), polyhomeotic-like 1 (Drosophila)	EDR1	NA	9121482	Standard	NM_004426	XM_005253334	NA	Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000433083.2:c.2421C>T	12.37:g.9089850C>T		NA	D3DUV4|Q8WVM3|Q9BU63	37																																																																																				PHC1-003	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000399117.1		+	ENST00000433083.2	Silent	SNP	12 : 9089850 - 9089850 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	144	33
AGAP7	0	broad.mit.edu	37	10	51465371	51465371	+	Missense_Mutation	SNP	G	G	A	rs77023418	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:51465371G>A	ENST00000374095.5	-	7	1210	c.1085C>T	c.(1084-1086)aCc>aTc	p.T362I		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		362	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CTTGGGGATGGTGGTGCTGGA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	85	80			NA	NA	10		NA											NA				51465371		2200	4282	6482	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000374095.5:c.1085C>T	10.37:g.51465371G>A	ENSP00000363208:p.Thr362Ile	NA	A6NGH4	37	CCDS41524.1	.	.	.	.	.	.	.	.	.	.	.	13.02	2.113683	0.37339	.	.	ENSG00000204169	ENST00000374095	T	0.55052	0.54	.	.	.	Pleckstrin homology domain (3);	0.394968	0.26765	N	0.022613	T	0.50871	0.1641	M	0.64997	1.995	0.43133	D	0.994876	P	0.48230	0.907	P	0.48738	0.588	T	0.45131	-0.9282	9	0.44086	T	0.13	.	5.9763	0.19382	6.0E-4:0.0:0.9994:0.0	.	362	Q5VUJ5	AGAP7_HUMAN	I	362	ENSP00000363208:T362I	ENSP00000363208:T362I	T	-	2	0	AGAP7	51135377	1.000000	0.71417	0.035000	0.18076	0.035000	0.12851	3.648000	0.54410	0.172000	0.19760	0.175000	0.17021	ACC	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048033.1		-	ENST00000374095.5	Missense_Mutation	SNP	10 : 51465371 - 51465371 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	856	198
ALS2	57679	broad.mit.edu	37	2	202632036	202632036	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202632036T>G	ENST00000264276.6	-	3	463	c.91A>C	c.(91-93)Aca>Cca	p.T31P	ALS2_ENST00000467448.1_Missense_Mutation_p.T31P|ALS2_ENST00000496244.1_5'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	31					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CTCTCTGGTGTTATGGGAAAG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	101	102			NA	NA	2		NA											NA				202632036		1911	4133	6044	SO:0001583	missense			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393	57679	57679		Rho guanine nucleotide exchange factors	443	protein-coding gene	gene with protein product	alsin	606352	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6	ALS2CR6	NA	11586298	Standard	NM_020919	NM_020919	NA	Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.91A>C	2.37:g.202632036T>G	ENSP00000264276:p.Thr31Pro	NA	Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	37	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	T	18.89	3.719253	0.68844	.	.	ENSG00000003393	ENST00000264276;ENST00000467448;ENST00000409632;ENST00000410052	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	6.07	4.92	0.64577	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.265070	0.42682	D	0.000678	D	0.89076	0.6612	M	0.74258	2.255	0.42157	D	0.99158	D;D;D;P	0.76494	0.999;0.98;0.974;0.944	D;P;P;P	0.69142	0.962;0.731;0.548;0.462	D	0.88998	0.3419	10	0.59425	D	0.04	.	9.9432	0.41593	0.0:0.1356:0.0:0.8644	.	31;31;31;31	Q96Q42-2;Q96Q42-3;Q6IQ41;Q96Q42	.;.;.;ALS2_HUMAN	P	31	ENSP00000264276:T31P;ENSP00000429223:T31P;ENSP00000386384:T31P;ENSP00000386948:T31P	ENSP00000264276:T31P	T	-	1	0	ALS2	202340281	0.931000	0.31567	0.807000	0.32361	0.997000	0.91878	1.289000	0.33307	1.114000	0.41781	0.533000	0.62120	ACA	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335562.3		-	ENST00000264276.6	Missense_Mutation	SNP	2 : 202632036 - 202632036 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	74
ZNF536	9745	broad.mit.edu	37	19	30934897	30934897	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30934897G>A	ENST00000355537.3	+	2	575	c.428G>A	c.(427-429)aGc>aAc	p.S143N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			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)					CGCTTCAACAGCATCCTCTCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	54	57			NA	NA	19		NA											NA				30934897		2202	4300	6502	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.428G>A	19.37:g.30934897G>A	ENSP00000347730:p.Ser143Asn	NA	A2RU18	37	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991212	0.74703	.	.	ENSG00000198597	ENST00000355537	T	0.07567	3.18	5.52	5.52	0.82312	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.040714	0.85682	N	0.000000	T	0.21761	0.0524	L	0.32530	0.975	0.54753	D	0.999986	D;D	0.69078	0.996;0.997	D;D	0.79784	0.951;0.993	T	0.00579	-1.1661	10	0.66056	D	0.02	-34.9913	19.4466	0.94849	0.0:0.0:1.0:0.0	.	143;143	A7E228;O15090	.;ZN536_HUMAN	N	143	ENSP00000347730:S143N	ENSP00000347730:S143N	S	+	2	0	ZNF536	35626737	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.860000	0.99555	2.609000	0.88269	0.462000	0.41574	AGC	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459667.2		+	ENST00000355537.3	Missense_Mutation	SNP	19 : 30934897 - 30934897 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	397	79
ANXA1	301	broad.mit.edu	37	9	75775219	75775219	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:75775219T>C	ENST00000376911.1	+	4	1193	c.311T>C	c.(310-312)cTt>cCt	p.L104P	ANXA1_ENST00000257497.6_Missense_Mutation_p.L104P			P04083	ANXA1_HUMAN	annexin A1	104					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	ACAGGTCACCTTGAGGAGGTT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	121	120			NA	NA	9		NA											NA				75775219		2203	4300	6503	SO:0001583	missense			X05908	CCDS6645.1	9q21.13	2013-02-25			ENSG00000135046	ENSG00000135046	301	301		Annexins, Endogenous ligands	533	protein-coding gene	gene with protein product		151690		ANX1, LPC1	NA	2936963	Standard	NM_000700	NM_000700	NA	Approved		uc004ajf.1	P04083	OTTHUMG00000020016	ENST00000376911.1:c.311T>C	9.37:g.75775219T>C	ENSP00000366109:p.Leu104Pro	NA		37	CCDS6645.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.284754	0.80803	.	.	ENSG00000135046	ENST00000257497;ENST00000456643;ENST00000415424;ENST00000376911	T;T;T;T	0.03860	3.78;3.78;3.78;3.78	5.92	5.92	0.95590	Annexin repeat, conserved site (1);	0.182863	0.48767	D	0.000169	T	0.32010	0.0815	H	0.94925	3.6	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.43829	-0.9367	10	0.87932	D	0	.	16.0339	0.80608	0.0:0.0:0.0:1.0	.	104	P04083	ANXA1_HUMAN	P	104;115;104;104	ENSP00000257497:L104P;ENSP00000412489:L115P;ENSP00000414013:L104P;ENSP00000366109:L104P	ENSP00000257497:L104P	L	+	2	0	ANXA1	74965039	0.838000	0.29461	0.927000	0.36925	0.644000	0.38419	5.484000	0.66844	2.260000	0.74910	0.528000	0.53228	CTT	ANXA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052665.1		+	ENST00000376911.1	Missense_Mutation	SNP	9 : 75775219 - 75775219 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	558	97
ASPM	259266	broad.mit.edu	37	1	197072923	197072923	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197072923G>A	ENST00000367409.4	-	18	5714	c.5458C>T	c.(5458-5460)Cta>Tta	p.L1820L	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1820	IQ 8.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGTTTGATTAGCTGGCGTACT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	96	95			NA	NA	1		NA											NA				197072923		2202	4298	6500	SO:0001819	synonymous_variant			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279	259266	259266			19048	protein-coding gene	gene with protein product		605481	microcephaly, primary autosomal recessive 5, asp (abnormal spindle)-like, microcephaly associated (Drosophila)	MCPH5	NA	11078481	Standard	NM_018136	NM_018136	NA	Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5458C>T	1.37:g.197072923G>A		NA	Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	37	CCDS1389.1																																																																																			ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088256.1		-	ENST00000367409.4	Silent	SNP	1 : 197072923 - 197072923 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	636	41
PIF1	80119	broad.mit.edu	37	15	65112092	65112092	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65112092C>A	ENST00000268043.4	-	8	1381	c.1287G>T	c.(1285-1287)caG>caT	p.Q429H	PIF1_ENST00000333425.6_Missense_Mutation_p.Q429H|PIF1_ENST00000559239.1_Missense_Mutation_p.Q429H			Q9H611	PIF1_HUMAN	PIF1 5'-to-3' DNA helicase	429	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						CCACATCATCCTGGTGGGTGC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	60	62			NA	NA	15		NA											NA				65112092		2202	4299	6501	SO:0001583	missense			AK026345	CCDS10195.2, CCDS66797.1	15q22.1	2013-05-13	2013-05-13	2006-11-24	ENSG00000140451	ENSG00000140451	80119	80119	3.6.4.12		26220	protein-coding gene	gene with protein product		610953	chromosome 15 open reading frame 20, PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)	C15orf20	NA	10926538, 16522649	Standard	NM_025049	NM_025049	NA	Approved	FLJ22692	uc002ant.2	Q9H611	OTTHUMG00000132974	ENST00000268043.4:c.1287G>T	15.37:g.65112092C>A	ENSP00000268043:p.Gln429His	NA	Q1W5B6|Q330H5|Q33E24	37	CCDS10195.2	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884722	0.51908	.	.	ENSG00000140451	ENST00000268043;ENST00000333425	T;T	0.77489	-1.1;-1.1	5.62	4.7	0.59300	.	0.047074	0.85682	D	0.000000	T	0.79305	0.4423	L	0.36672	1.1	0.40223	D	0.977751	D	0.69078	0.997	D	0.64410	0.925	T	0.79245	-0.1883	10	0.48119	T	0.1	-29.2408	8.5208	0.33275	0.0:0.8264:0.0:0.1736	.	429	Q9H611	PIF1_HUMAN	H	429	ENSP00000268043:Q429H;ENSP00000328174:Q429H	ENSP00000268043:Q429H	Q	-	3	2	PIF1	62899145	1.000000	0.71417	1.000000	0.80357	0.317000	0.28152	0.885000	0.28227	1.379000	0.46325	0.655000	0.94253	CAG	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256533.1		-	ENST00000268043.4	Missense_Mutation	SNP	15 : 65112092 - 65112092 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	420	19
CD5	921	broad.mit.edu	37	11	60886791	60886791	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60886791T>C	ENST00000347785.3	+	5	715	c.549T>C	c.(547-549)ggT>ggC	p.G183G		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	183	SRCR 2.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		GCCTGGGGGGTACCATCAGCT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	60	59			NA	NA	11		NA											NA				60886791		2203	4299	6502	SO:0001819	synonymous_variant			X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448	921	921		CD molecules	1685	protein-coding gene	gene with protein product		153340	CD5 antigen (p56-62)	LEU1	NA	1711157	Standard	NM_014207	NM_014207	NA	Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.549T>C	11.37:g.60886791T>C		NA	A0N0P4|A8K9I3	37	CCDS8000.1																																																																																			CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396465.2		+	ENST00000347785.3	Silent	SNP	11 : 60886791 - 60886791 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	380	85
ANO5	203859	broad.mit.edu	37	11	22283829	22283829	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22283829G>A	ENST00000324559.8	+	16	2102	c.1785G>A	c.(1783-1785)gaG>gaA	p.E595E		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	595						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TATTTAATGAGTGGAGAAGTG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	103	103			NA	NA	11		NA											NA				22283829		2203	4300	6503	SO:0001819	synonymous_variant			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714	203859	203859		Ion channels / Chloride channels : Calcium activated : Anoctamins	27337	protein-coding gene	gene with protein product		608662	transmembrane protein 16E, limb girdle muscular dystrophy 2L (autosomal recessive)	TMEM16E, LGMD2L	NA	15067359, 20096397, 24692353	Standard	NM_213599	NM_213599	NA	Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1785G>A	11.37:g.22283829G>A		NA		37	CCDS31444.1																																																																																			ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387615.1		+	ENST00000324559.8	Silent	SNP	11 : 22283829 - 22283829 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	571	92
MYBPC1	4604	broad.mit.edu	37	12	102040565	102040565	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102040565C>T	ENST00000549145.1	+	12	1054	c.954C>T	c.(952-954)tgC>tgT	p.C318C	MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000545503.2_Silent_p.C305C|MYBPC1_ENST00000536007.1_Silent_p.C286C|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000441232.1_Silent_p.C305C|MYBPC1_ENST00000361685.2_Silent_p.C330C|MYBPC1_ENST00000361466.2_Silent_p.C330C|MYBPC1_ENST00000550270.1_Silent_p.C305C|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000360610.2_Silent_p.C305C|MYBPC1_ENST00000547509.1_Silent_p.C291C|MYBPC1_ENST00000551300.1_Silent_p.C206C|MYBPC1_ENST00000547405.1_Silent_p.C279C|MYBPC1_ENST00000553190.1_Silent_p.C305C|MYBPC1_ENST00000452455.2_Silent_p.C305C|MYBPC1_ENST00000392934.3_Silent_p.C292C|MYBPC1_ENST00000541119.1_Silent_p.C293C			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	305	Ig-like C2-type 2.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ACAAAGGATGCCAGAGAATCC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	86	87			NA	NA	12		NA											NA				102040565		2203	4300	6503	SO:0001819	synonymous_variant				CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091	4604	4604		Myosin binding proteins, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	7549	protein-coding gene	gene with protein product		160794	myosin-binding protein C, slow-type		NA	8375400, 16918501	Standard		NM_002465	NA	Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000549145.1:c.954C>T	12.37:g.102040565C>T		NA	Q15497|Q569K7|Q8N3L2	37																																																																																				MYBPC1-013	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000408273.2		+	ENST00000549145.1	Silent	SNP	12 : 102040565 - 102040565 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	43
BACH2	60468	broad.mit.edu	37	6	90647962	90647962	+	Silent	SNP	A	A	G	rs151085282		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90647962A>G	ENST00000257749.4	-	8	2651	c.1944T>C	c.(1942-1944)caT>caC	p.H648H	BACH2_ENST00000343122.3_Silent_p.H648H|BACH2_ENST00000537989.1_Silent_p.H648H	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	648						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GTCGGACATCATGAATAAACT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								A	,	0,4406		0,0,2203	120	115	117		1944,1944	-0.6	1	6	dbSNP_134	117	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	BACH2	NM_001170794.1,NM_021813.2	,	0,2,6501	GG,GA,AA	NA	0.0233,0.0,0.0154	,	648/842,648/842	90647962	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182	60468	60468		BTB/POZ domain containing, basic leucine zipper proteins	14078	protein-coding gene	gene with protein product		605394			NA	10949928, 12829606	Standard	NM_021813	NM_001170794	NA	Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1944T>C	6.37:g.90647962A>G		NA	E1P518|Q59H70|Q5T793|Q9NTS5	37	CCDS5026.1																																																																																			BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041522.2		-	ENST00000257749.4	Silent	SNP	6 : 90647962 - 90647962 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	518	103
RGS12	6002	broad.mit.edu	37	4	3318639	3318639	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3318639G>A	ENST00000382788.3	+	1	845	c.742G>A	c.(742-744)Gag>Aag	p.E248K	RGS12_ENST00000336727.3_Missense_Mutation_p.E248K|RGS12_ENST00000344733.5_Missense_Mutation_p.E248K|RGS12_ENST00000543385.1_Missense_Mutation_p.E248K			O14924	RGS12_HUMAN	regulator of G-protein signaling 12	248	PID.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTCCAACCTGGAGTCCGACAG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	47	47			NA	NA	4		NA											NA				3318639		2203	4300	6503	SO:0001583	missense			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788	6002	6002		Regulators of G-protein signaling	9994	protein-coding gene	gene with protein product		602512	regulator of G-protein signalling 12		NA	9651375	Standard	NM_002926	NM_198229	NA	Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000382788.3:c.742G>A	4.37:g.3318639G>A	ENSP00000372238:p.Glu248Lys	NA	B1AQ30|B1AQ31|B1AQ32|O14922|O14923|O43510|O75338	37	CCDS3367.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058037	0.76074	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	T;T;T;T	0.19394	2.15;2.55;2.55;2.55	4.54	3.69	0.42338	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.45955	0.1368	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	0.988;1.0;1.0	D;D;D	0.91635	0.941;0.997;0.999	T	0.41805	-0.9488	10	0.39692	T	0.17	-39.8041	13.7741	0.63044	0.0:0.1547:0.8453:0.0	.	248;248;248	Q8WX97;O14924;O14924-4	.;RGS12_HUMAN;.	K	248	ENSP00000440566:E248K;ENSP00000339381:E248K;ENSP00000338509:E248K;ENSP00000372238:E248K	ENSP00000338509:E248K	E	+	1	0	RGS12	3288437	1.000000	0.71417	0.789000	0.31954	0.607000	0.37147	9.493000	0.97960	0.889000	0.36185	0.491000	0.48974	GAG	RGS12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206603.1		+	ENST00000382788.3	Missense_Mutation	SNP	4 : 3318639 - 3318639 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	425	22
NMBR	4829	broad.mit.edu	37	6	142396962	142396962	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:142396962C>T	ENST00000258042.1	-	3	1136	c.996G>A	c.(994-996)agG>agA	p.R332R	NMBR_ENST00000480652.1_5'UTR	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	332					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TGAAATGCCTCCTGAAGCTTT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	102	104			NA	NA	6		NA											NA				142396962		2203	4300	6503	SO:0001819	synonymous_variant				CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577	4829	4829		GPCR / Class A : Bombesin receptors	7843	protein-coding gene	gene with protein product	bombesin receptor 1	162341			NA		Standard		NM_002511	NA	Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.996G>A	6.37:g.142396962C>T		NA	Q5VUK8	37	CCDS5196.1																																																																																			NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042479.1		-	ENST00000258042.1	Silent	SNP	6 : 142396962 - 142396962 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	399	82
DMPK	1760	broad.mit.edu	37	19	46275971	46275971	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46275971C>A	ENST00000354227.5	-	10	1393	c.1257G>T	c.(1255-1257)gaG>gaT	p.E419D	DMPK_ENST00000447742.2_Missense_Mutation_p.E419D|DMPK_ENST00000291270.4_Missense_Mutation_p.E424D|DMPK_ENST00000458663.2_Missense_Mutation_p.E419D|DMPK_ENST00000343373.4_Missense_Mutation_p.E434D|DMPK_ENST00000600757.1_Missense_Mutation_p.E429D			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	434	AGC-kinase C-terminal.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GCTGCTCGGCCTCCAGTTCCA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(35;307 869 9153 24033 28903)							NA				0													44	45	45			NA	NA	19		NA											NA				46275971		2203	4300	6503	SO:0001583	missense			L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					1760	1760	2.7.11.1		2933	protein-coding gene	gene with protein product	dystrophia myotonica 1, DM protein kinase, myotonin protein kinase A, myotonic dystrophy associated protein kinase, thymopoietin homolog	605377	dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)	DM1, DM	NA	1546325, 1546326	Standard	NM_004409	NM_001288765	NA	Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000354227.5:c.1257G>T	19.37:g.46275971C>A	ENSP00000346168:p.Glu419Asp	NA	Q16205|Q6P5Z6	37		.	.	.	.	.	.	.	.	.	.	c	16.24	3.066487	0.55539	.	.	ENSG00000104936	ENST00000458663;ENST00000342805;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000343373;ENST00000348168;ENST00000354227	T;T;T;T;T	0.67523	-0.27;-0.25;-0.27;-0.26;-0.2	3.87	3.87	0.44632	AGC-kinase, C-terminal (1);	0.000000	0.43747	D	0.000539	T	0.69771	0.3148	L	0.44542	1.39	0.80722	D	1	P;P;P;P;P;P;D;D	0.76494	0.916;0.734;0.907;0.816;0.615;0.849;0.993;0.999	P;B;P;B;B;B;P;P	0.60415	0.631;0.391;0.59;0.311;0.219;0.386;0.864;0.874	T	0.67898	-0.5551	10	0.35671	T	0.21	.	11.5239	0.50569	0.0:1.0:0.0:0.0	.	419;424;450;419;419;424;466;434	Q09013-12;Q09013-16;G5E982;E5KR07;E5KR05;Q09013;Q59FU6;E5KR08	.;.;.;.;.;DMPK_HUMAN;.;.	D	419;450;424;419;419;434;434;419	ENSP00000401753:E419D;ENSP00000291270:E424D;ENSP00000413417:E419D;ENSP00000345997:E434D;ENSP00000346168:E419D	ENSP00000291270:E424D	E	-	3	2	DMPK	50967811	1.000000	0.71417	0.998000	0.56505	0.835000	0.47333	3.471000	0.53107	2.157000	0.67596	0.561000	0.74099	GAG	DMPK-003	KNOWN	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000460577.1		-	ENST00000354227.5	Missense_Mutation	SNP	19 : 46275971 - 46275971 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	233	11
TIPIN	54962	broad.mit.edu	37	15	66633578	66633578	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66633578C>T	ENST00000261881.4	-	7	677	c.592G>A	c.(592-594)Gag>Aag	p.E198K	TIPIN_ENST00000367709.4_Missense_Mutation_p.E97K	NM_017858.2	NP_060328	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	198					cell division|DNA replication checkpoint|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection	cytoplasm|nuclear chromatin	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						TGTTGTTGCTCTTCTGTTAGG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	105	108			NA	NA	15		NA											NA				66633578		2201	4299	6500	SO:0001583	missense			BK001386	CCDS10215.1	15q22.31	2012-03-02	2006-08-08		ENSG00000075131	ENSG00000075131	54962	54962			30750	protein-coding gene	gene with protein product	CSM3 homolog (S. cerevisiae)	610716			NA	12875843, 17102137	Standard	NM_017858	NM_017858	NA	Approved	FLJ20516	uc002apr.2	Q9BVW5	OTTHUMG00000133188	ENST00000261881.4:c.592G>A	15.37:g.66633578C>T	ENSP00000261881:p.Glu198Lys	NA	B2CW64|Q9NWZ6	37	CCDS10215.1	.	.	.	.	.	.	.	.	.	.	C	35	5.441037	0.96168	.	.	ENSG00000075131	ENST00000367709;ENST00000261881	T;T	0.32753	1.44;1.88	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.52322	0.1727	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	D	0.63381	0.914	T	0.53933	-0.8368	10	0.72032	D	0.01	-11.8662	18.1069	0.89523	0.0:1.0:0.0:0.0	.	198	Q9BVW5	TIPIN_HUMAN	K	97;198	ENSP00000356682:E97K;ENSP00000261881:E198K	ENSP00000261881:E198K	E	-	1	0	TIPIN	64420632	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.448000	0.60027	2.530000	0.85305	0.557000	0.71058	GAG	TIPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256897.2		-	ENST00000261881.4	Missense_Mutation	SNP	15 : 66633578 - 66633578 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	394	36
NRP2	8828	broad.mit.edu	37	2	206659634	206659634	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206659634G>A	ENST00000360409.3	+	17	3439	c.2648G>A	c.(2647-2649)tGt>tAt	p.C883Y	NRP2_ENST00000412873.2_Missense_Mutation_p.C861Y|NRP2_ENST00000357785.5_Missense_Mutation_p.C878Y|NRP2_ENST00000540178.1_Missense_Mutation_p.C878Y|NRP2_ENST00000540841.1_Missense_Mutation_p.C861Y	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	883					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GGGGCCACCTGTGCAGGCCTC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	88	92			NA	NA	2		NA											NA				206659634		2203	4300	6503	SO:0001583	missense			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257	8828	8828			8005	protein-coding gene	gene with protein product		602070			NA	9529250, 9331348	Standard		NM_003872	NA	Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000360409.3:c.2648G>A	2.37:g.206659634G>A	ENSP00000353582:p.Cys883Tyr	NA	O14820|O14821|Q53TQ4|Q53TS3|Q9H2D4|Q9H2D5|Q9H2E3|Q9H2E4	37	CCDS2364.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123578	0.77436	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000357785;ENST00000412873	D;D;D;D;D	0.94000	-2.98;-2.98;-3.33;-3.03;-3.28	6.17	6.17	0.99709	Neuropilin-1, C-terminal (1);	0.283286	0.45867	D	0.000335	D	0.96445	0.8840	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.96002	0.8994	10	0.87932	D	0	-20.5075	20.8794	0.99867	0.0:0.0:1.0:0.0	.	861;878;883	O60462-2;O60462-3;O60462	.;.;NRP2_HUMAN	Y	883;878;861;878;861	ENSP00000353582:C883Y;ENSP00000439658:C878Y;ENSP00000439261:C861Y;ENSP00000350432:C878Y;ENSP00000407626:C861Y	ENSP00000350432:C878Y	C	+	2	0	NRP2	206367879	1.000000	0.71417	0.917000	0.36280	0.669000	0.39330	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TGT	NRP2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256392.1		+	ENST00000360409.3	Missense_Mutation	SNP	2 : 206659634 - 206659634 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	671	108
CYP4F11	57834	broad.mit.edu	37	19	16034677	16034677	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16034677T>G	ENST00000402119.4	-	6	1289	c.863A>C	c.(862-864)aAg>aCg	p.K288T	CYP4F11_ENST00000326742.8_Missense_Mutation_p.K288T|CYP4F11_ENST00000591841.1_5'UTR|CYP4F11_ENST00000248041.8_Missense_Mutation_p.K288T	NM_021187.3	NP_067010.3	Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	NA					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TGCCTTGTTCTTGAGGAAATC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	120	123			NA	NA	19		NA											NA				16034677		2203	4300	6503	SO:0001583	missense			AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903	57834	57834		Cytochrome P450s	13265	protein-coding gene	gene with protein product		611517	cytochrome P450, subfamily IVF, polypeptide 11		NA	10964514, 9068972	Standard	NM_021187	NM_021187	NA	Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.863A>C	19.37:g.16034677T>G	ENSP00000384588:p.Lys288Thr	NA	O75254|Q96AQ5	37	CCDS12337.1	.	.	.	.	.	.	.	.	.	.	t	13.56	2.275051	0.40194	.	.	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	T;T;T	0.69806	-0.43;-0.43;0.09	2.67	0.362	0.16113	.	0.189124	0.31347	U	0.007806	T	0.53367	0.1792	L	0.35854	1.095	0.09310	N	1	B;B	0.24675	0.109;0.079	B;B	0.35727	0.209;0.141	T	0.49679	-0.8914	10	0.59425	D	0.04	.	3.7117	0.08423	0.0:0.1429:0.2268:0.6303	.	288;288	F8W978;Q9HBI6	.;CP4FB_HUMAN	T	288	ENSP00000384588:K288T;ENSP00000248041:K288T;ENSP00000319859:K288T	ENSP00000248041:K288T	K	-	2	0	CYP4F11	15895677	0.887000	0.30362	0.029000	0.17559	0.308000	0.27856	1.765000	0.38481	0.216000	0.20781	0.254000	0.18369	AAG	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460385.2		-	ENST00000402119.4	Missense_Mutation	SNP	19 : 16034677 - 16034677 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	929	188
LZTS2	84445	broad.mit.edu	37	10	102765260	102765260	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102765260C>A	ENST00000370220.1	+	3	4177	c.1114C>A	c.(1114-1116)Ctg>Atg	p.L372M	LZTS2_ENST00000370223.3_Missense_Mutation_p.L372M			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	372					cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GCGTGAGGCCCTGCGAGAGGA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(8;38 437 13604 19902 37640)							NA				0													20	24	22			NA	NA	10		NA											NA				102765260		2197	4289	6486	SO:0001583	missense			AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816	84445	84445			29381	protein-coding gene	gene with protein product		610454			NA	11347906, 11709705	Standard	XM_046743	NM_032429	NA	Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.1114C>A	10.37:g.102765260C>A	ENSP00000359240:p.Leu372Met	NA	B1AL14|D3DR72|Q8N3I0|Q96J79|Q96JL2	37	CCDS7507.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152810	0.57259	.	.	ENSG00000107816	ENST00000370223;ENST00000315797;ENST00000370220	T;T	0.53206	0.63;0.63	4.32	4.32	0.51571	.	0.173586	0.37809	N	0.001924	T	0.61565	0.2357	M	0.80508	2.5	0.39210	D	0.96329	D	0.54601	0.967	P	0.57548	0.823	T	0.68337	-0.5435	10	0.72032	D	0.01	0.7177	8.2205	0.31539	0.0:0.8148:0.0:0.1851	.	372	Q9BRK4	LZTS2_HUMAN	M	372	ENSP00000359243:L372M;ENSP00000359240:L372M	ENSP00000314437:L372M	L	+	1	2	LZTS2	102755250	0.068000	0.21057	0.996000	0.52242	0.885000	0.51271	0.948000	0.29096	1.960000	0.56953	0.561000	0.74099	CTG	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049872.1		+	ENST00000370220.1	Missense_Mutation	SNP	10 : 102765260 - 102765260 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	322	68
EIF4G1	1981	broad.mit.edu	37	3	184039075	184039075	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184039075C>T	ENST00000392537.2	+	7	689	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	EIF4G1_ENST00000319274.6_Missense_Mutation_p.R235W|EIF4G1_ENST00000342981.4_Missense_Mutation_p.R235W|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R71W|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R195W|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R39W|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R195W|EIF4G1_ENST00000346169.2_Missense_Mutation_p.R235W|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R148W|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R71W|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R242W|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R39W|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R242W|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R242W	NM_198244.2	NP_937887	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	235					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCAGATGACCGGTCACAGGG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	81	82			NA	NA	3		NA											NA				184039075		2203	4300	6503	SO:0001583	missense			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867	1981	1981		Parkinson disease	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F	NA	1429670, 9372926, 21907011	Standard	NM_182917	NM_182917	NA	Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000392537.2:c.442C>T	3.37:g.184039075C>T	ENSP00000376320:p.Arg148Trp	NA	D3DNT4|D3DNT5|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	37	CCDS3260.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997630	0.54147	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000444134;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000428387;ENST00000434061;ENST00000427607;ENST00000457456;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.55052	3.86;3.85;3.78;0.71;2.75;2.75;3.86;2.9;3.67;3.86;3.79;3.86;3.86;3.86;3.85;2.29;3.67;0.66;3.65;0.54;1.28;3.63	5.54	3.73	0.42828	.	0.504049	0.20782	N	0.085777	T	0.55273	0.1910	N	0.24115	0.695	0.41002	D	0.984934	B;D;D;B	0.76494	0.007;0.999;0.999;0.14	B;D;D;B	0.71870	0.002;0.975;0.952;0.015	T	0.59327	-0.7475	10	0.66056	D	0.02	-16.9319	9.9227	0.41474	0.0:0.838:0.0:0.162	.	242;235;235;242	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	W	235;195;148;39;235;242;242;176;71;242;148;235;235;242;195;71;71;39;39;39;39;39	ENSP00000316879:R235W;ENSP00000391935:R195W;ENSP00000376320:R148W;ENSP00000407244:R39W;ENSP00000391412:R235W;ENSP00000413159:R242W;ENSP00000371767:R242W;ENSP00000403269:R176W;ENSP00000317600:R71W;ENSP00000338020:R242W;ENSP00000407682:R148W;ENSP00000343450:R235W;ENSP00000323737:R235W;ENSP00000416255:R242W;ENSP00000395974:R195W;ENSP00000398145:R71W;ENSP00000399858:R71W;ENSP00000411707:R39W;ENSP00000411826:R39W;ENSP00000409545:R39W;ENSP00000399969:R39W;ENSP00000404754:R39W	ENSP00000323737:R235W	R	+	1	2	EIF4G1	185521769	0.997000	0.39634	1.000000	0.80357	0.989000	0.77384	1.261000	0.32980	1.585000	0.49928	0.655000	0.94253	CGG	EIF4G1-003	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345729.2		+	ENST00000392537.2	Missense_Mutation	SNP	3 : 184039075 - 184039075 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	487	18
CDKL2	8999	broad.mit.edu	37	4	76523300	76523300	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76523300A>G	ENST00000307465.4	-	8	1494	c.981T>C	c.(979-981)gaT>gaC	p.D327D	CDKL2_ENST00000429927.2_Silent_p.D327D			Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	327					sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CTAAGGAATCATCTTTTTCTT	0.274		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	38	38			NA	NA	4		NA											NA				76523300		2197	4274	6471	SO:0001819	synonymous_variant			U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769	8999	8999		Cyclin-dependent kinases	1782	protein-coding gene	gene with protein product		603442			NA	9000130	Standard	NM_003948	NM_003948	NA	Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000307465.4:c.981T>C	4.37:g.76523300A>G		NA	B2R695	37																																																																																				CDKL2-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000362891.1		-	ENST00000307465.4	Silent	SNP	4 : 76523300 - 76523300 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	43
CASKIN1	57524	broad.mit.edu	37	16	2237180	2237180	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2237180C>A	ENST00000343516.6	-	8	914	c.822G>T	c.(820-822)aaG>aaT	p.K274N		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	274					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GCAACAGCTGCTTGATCTCCC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	77	77			NA	NA	16		NA											NA				2237180		2146	4253	6399	SO:0001583	missense			AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971	57524	57524		Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	20879	protein-coding gene	gene with protein product		612184			NA	12040031	Standard	NM_020764	NM_020764	NA	Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.822G>T	16.37:g.2237180C>A	ENSP00000345436:p.Lys274Asn	NA	Q9P2P0	37	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201134	0.58234	.	.	ENSG00000167971	ENST00000343516;ENST00000382453	T	0.69561	-0.41	3.69	1.7	0.24286	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.68650	0.3024	L	0.34521	1.04	0.53688	D	0.999976	D	0.89917	1.0	D	0.91635	0.999	T	0.67696	-0.5604	9	0.72032	D	0.01	-22.2528	6.8935	0.24243	0.0:0.6855:0.0:0.3145	.	274	Q8WXD9	CSKI1_HUMAN	N	274;103	ENSP00000345436:K274N	ENSP00000345436:K274N	K	-	3	2	CASKIN1	2177181	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	0.588000	0.23924	0.891000	0.36235	0.455000	0.32223	AAG	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000435055.1		-	ENST00000343516.6	Missense_Mutation	SNP	16 : 2237180 - 2237180 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	400	18
EIF4A3	9775	broad.mit.edu	37	17	78111992	78111992	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78111992G>A	ENST00000269349.3	-	8	1037	c.816C>T	c.(814-816)taC>taT	p.Y272Y		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	272	Helicase C-terminal.				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			TCAGTGTGTCGTAGAGGTCAC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													221	191	201			NA	NA	17		NA											NA				78111992		2203	4300	6503	SO:0001819	synonymous_variant			BC004386	CCDS11767.1	17q25.3	2010-02-10	2010-02-10	2006-11-27		ENSG00000141543	9775	9775		DEAD-boxes	18683	protein-coding gene	gene with protein product		608546	DEAD (Asp-Glu-Ala-Asp) box polypeptide 48, eukaryotic translation initiation factor 4A, isoform 3	DDX48	NA	10623621, 14730019	Standard	NM_014740	NM_014740	NA	Approved	KIAA0111, EIF4AIII	uc002jxs.3	P38919		ENST00000269349.3:c.816C>T	17.37:g.78111992G>A		NA	Q15033|Q6IBQ2|Q96A18	37	CCDS11767.1																																																																																			EIF4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437446.1		-	ENST00000269349.3	Silent	SNP	17 : 78111992 - 78111992 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	627	125
ATF7IP2	80063	broad.mit.edu	37	16	10532037	10532037	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:10532037G>A	ENST00000396560.2	+	5	1267	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.R347H|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.R347H|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.R347H	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						TTGAACCAACGCATTGGGAAG	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	136	137			NA	NA	16		NA											NA				10532037		2197	4300	6497	SO:0001583	missense			AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669	80063	80063			20397	protein-coding gene	gene with protein product		613645			NA		Standard	NM_024997	NM_001256160	NA	Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.1040G>A	16.37:g.10532037G>A	ENSP00000379808:p.Arg347His	NA	B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	37	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340217	0.81911	.	.	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.55	5.55	0.83447	.	0.213702	0.33534	N	0.004814	T	0.61223	0.2330	L	0.58101	1.795	0.41635	D	0.989044	D;D	0.89917	1.0;0.993	D;P	0.91635	0.999;0.842	T	0.63646	-0.6590	10	0.87932	D	0	-0.259	15.0123	0.71557	0.0:0.0:1.0:0.0	.	347;347	Q5U623-2;Q5U623	.;MCAF2_HUMAN	H	347	ENSP00000379807:R347H;ENSP00000379808:R347H;ENSP00000440791:R347H;ENSP00000348799:R347H;ENSP00000322811:R347H	ENSP00000322811:R347H	R	+	2	0	ATF7IP2	10439538	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.735000	0.62051	2.602000	0.87976	0.650000	0.86243	CGC	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251961.1		+	ENST00000396560.2	Missense_Mutation	SNP	16 : 10532037 - 10532037 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	534	105
POLDIP3	84271	broad.mit.edu	37	22	42981253	42981253	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42981253C>T	ENST00000252115.5	-	0	1914				POLDIP3_ENST00000348657.2_3'UTR|POLDIP3_ENST00000339677.6_Missense_Mutation_p.A174T	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	NA					positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						GGACAAGAGGCCTGAGACCTG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(52;967 1128 5875 19997 42537)							NA				0													20	18	19			NA	NA	22		NA											NA				42981253		870	1987	2857	SO:0001624	3_prime_UTR_variant				CCDS14038.1, CCDS14039.1, CCDS74873.1	22q13.31	2013-02-12			ENSG00000100227	ENSG00000100227	84271	84271		RNA binding motif (RRM) containing	23782	protein-coding gene	gene with protein product		611520			NA	12522211	Standard	NM_032311	NM_032311	NA	Approved	PDIP46, KIAA1649	uc003bcu.3	Q9BY77	OTTHUMG00000150887	ENST00000252115.5:c.*544G>A	22.37:g.42981253C>T		NA	A8K6F8|A8K6V9|Q009A7|Q5H972|Q6PGN6|Q7Z6Z0|Q9NSP5|Q9NSP6	37	CCDS14038.1	.	.	.	.	.	.	.	.	.	.	C	9.929	1.214249	0.22289	.	.	ENSG00000100227	ENST00000339677	.	.	.	4.24	-8.12	0.01078	.	.	.	.	.	T	0.21761	0.0524	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32534	-0.9903	7	0.87932	D	0	.	1.386	0.02240	0.3349:0.1739:0.3262:0.165	.	174	Q6R954	.	T	174	.	ENSP00000343060:A174T	A	-	1	0	POLDIP3	41311197	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.596000	0.05720	-1.300000	0.02341	0.655000	0.94253	GCC	POLDIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320433.1		-	ENST00000252115.5	3'UTR	SNP	22 : 42981253 - 42981253 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	63	26
CDCA2	157313	broad.mit.edu	37	8	25364262	25364262	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25364262G>A	ENST00000330560.3	+	15	2557	c.2080G>A	c.(2080-2082)Gca>Aca	p.A694T	CDCA2_ENST00000380665.3_Missense_Mutation_p.A679T|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	694					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TATTCCAAAAGCAAAAAATAA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	34	33			NA	NA	8		NA											NA				25364262		2194	4296	6490	SO:0001583	missense			BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661	157313	157313			14623	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 81				NA	12188893, 16492807	Standard	NM_152562	NM_152562	NA	Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.2080G>A	8.37:g.25364262G>A	ENSP00000328228:p.Ala694Thr	NA	Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	37	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076236	0.55646	.	.	ENSG00000184661	ENST00000330560;ENST00000380665;ENST00000434814	T;T	0.46063	0.88;0.88	4.63	3.75	0.43078	.	0.677027	0.14755	N	0.300370	T	0.38931	0.1059	L	0.48642	1.525	0.20975	N	0.999814	P;P	0.46912	0.886;0.886	P;P	0.44673	0.457;0.457	T	0.18429	-1.0337	10	0.49607	T	0.09	-8.0648	8.8171	0.35002	0.1032:0.0:0.8968:0.0	.	679;694	E9PEI0;Q69YH5	.;CDCA2_HUMAN	T	694;679;93	ENSP00000328228:A694T;ENSP00000370040:A679T	ENSP00000328228:A694T	A	+	1	0	CDCA2	25420179	0.128000	0.22383	0.589000	0.28718	0.117000	0.20001	1.297000	0.33400	1.323000	0.45263	0.650000	0.86243	GCA	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216891.3		+	ENST00000330560.3	Missense_Mutation	SNP	8 : 25364262 - 25364262 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	272	52
ZNF300	91975	broad.mit.edu	37	5	150277639	150277639	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150277639C>T	ENST00000427179.1	-	5	476	c.250G>A	c.(250-252)Gca>Aca	p.A84T	ZNF300_ENST00000394226.2_Missense_Mutation_p.A84T|ZNF300_ENST00000418587.2_Missense_Mutation_p.A48T|ZNF300_ENST00000446148.2_Missense_Mutation_p.A100T|ZNF300_ENST00000274599.5_Missense_Mutation_p.A84T			Q96RE9	ZN300_HUMAN	zinc finger protein 300	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCCCATCTGCCTGATATTCA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													187	167	174			NA	NA	5		NA											NA				150277639		2203	4300	6503	SO:0001583	missense			AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908	91975	91975		Zinc fingers, C2H2-type, -	13091	protein-coding gene	gene with protein product		612429			NA	14746915	Standard	NM_052860	NM_052860	NA	Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000427179.1:c.250G>A	5.37:g.150277639C>T	ENSP00000414195:p.Ala84Thr	NA	A8MY91|B3KU35|B4DU78|Q06DQ3|Q17RP3|Q5H9N5	37		.	.	.	.	.	.	.	.	.	.	C	15.43	2.830383	0.50845	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000427179;ENST00000394226	T;T;T;T;T	0.08102	3.17;3.17;3.13;5.86;3.17	3.48	1.65	0.23941	.	.	.	.	.	T	0.04679	0.0127	N	0.14661	0.345	0.24187	N	0.995566	B	0.10296	0.003	B	0.09377	0.004	T	0.45483	-0.9258	9	0.22109	T	0.4	.	7.2149	0.25955	0.0:0.7715:0.0:0.2285	.	84	Q96RE9	ZN300_HUMAN	T	100;84;48;84;84	ENSP00000397178:A100T;ENSP00000274599:A84T;ENSP00000392593:A48T;ENSP00000414195:A84T;ENSP00000377773:A84T	ENSP00000274599:A84T	A	-	1	0	ZNF300	150257832	0.004000	0.15560	0.827000	0.32855	0.975000	0.68041	0.432000	0.21461	0.287000	0.22375	0.563000	0.77884	GCA	ZNF300-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000337308.1		-	ENST00000427179.1	Missense_Mutation	SNP	5 : 150277639 - 150277639 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	514	91
BCOR	54880	broad.mit.edu	37	X	39937186	39937186	+	Translation_Start_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:39937186G>A	ENST00000342274.4	-	0	359				BCOR_ENST00000397354.3_De_novo_Start_OutOfFrame|BCOR_ENST00000378455.4_De_novo_Start_OutOfFrame|BCOR_ENST00000378444.4_De_novo_Start_OutOfFrame	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	NA					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						AGAGCATGTCGTCTTCTGGGA	0.532		NA	F, N, S, T	RARA	retinoblastoma, AML, APL(translocation)		oculo-facio-cardio-dental genetic							NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													104	82	89			NA	NA	X		NA											NA				39937186		2202	4300	6502					AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337	54880	54880		Ankyrin repeat domain containing	20893	protein-coding gene	gene with protein product		300485	BCL6 co-repressor		NA	10898795	Standard	NM_017745	NM_017745	NA	Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000342274.4:c.-4C>T	X.37:g.39937186G>A		NA	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	37	CCDS14250.1																																																																																			BCOR-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060670.1		-	ENST00000342274.4	De_novo_Start_OutOfFrame	SNP	X : 39937186 - 39937186 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	228	71
EXD3	54932	broad.mit.edu	37	9	140218237	140218237	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140218237C>A	ENST00000340951.4	-	19	2319	c.2124G>T	c.(2122-2124)aaG>aaT	p.K708N	EXD3_ENST00000342129.4_Missense_Mutation_p.K359N	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	708					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						TGAGCACAGCCTTGGCCTGCT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense				CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609	54932	54932			26023	protein-coding gene	gene with protein product					NA		Standard	NM_017820	XM_005266093	NA	Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.2124G>T	9.37:g.140218237C>A	ENSP00000340474:p.Lys708Asn	NA	B8A4U7|C9JIQ9|Q2TAK4|Q8N3X4|Q8NHD1|Q96NP1	37	CCDS48066.1	.	.	.	.	.	.	.	.	.	.	C	8.365	0.833936	0.16820	.	.	ENSG00000187609	ENST00000342129;ENST00000340951	T;T	0.65364	-0.15;0.65	3.9	0.306	0.15806	.	0.652919	0.14754	N	0.300382	T	0.66247	0.2770	M	0.63843	1.955	0.09310	N	1	D;D	0.60160	0.979;0.987	P;P	0.58520	0.785;0.84	T	0.54814	-0.8237	10	0.45353	T	0.12	.	5.5666	0.17175	0.0:0.499:0.2567:0.2443	.	359;708	Q8N9H8-3;Q8N9H8	.;MUT7_HUMAN	N	359;708	ENSP00000343705:K359N;ENSP00000340474:K708N	ENSP00000340474:K708N	K	-	3	2	EXD3	139338058	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	0.033000	0.13754	0.112000	0.17975	0.305000	0.20034	AAG	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343182.1		-	ENST00000340951.4	Missense_Mutation	SNP	9 : 140218237 - 140218237 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	269	72
ABAT	18	broad.mit.edu	37	16	8829607	8829607	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8829607T>G	ENST00000567812.1	+	2	318	c.56T>G	c.(55-57)aTg>aGg	p.M19R	ABAT_ENST00000396600.2_Missense_Mutation_p.M4R|ABAT_ENST00000268251.8_Missense_Mutation_p.M4R|ABAT_ENST00000569156.1_Missense_Mutation_p.M4R|ABAT_ENST00000425191.2_Missense_Mutation_p.M4R			P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	4					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	ATGGCCTCCATGTTGCTCGCC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	29	32			NA	NA	16		NA											NA				8829607		2197	4300	6497	SO:0001583	missense			L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	18	18	2.6.1.19		23	protein-coding gene	gene with protein product	4-aminobutyrate transaminase	137150			NA	7721088	Standard	NM_020686	NM_020686	NA	Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000567812.1:c.56T>G	16.37:g.8829607T>G	ENSP00000456330:p.Met19Arg	NA	A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	37		.	.	.	.	.	.	.	.	.	.	T	9.529	1.110442	0.20714	.	.	ENSG00000183044	ENST00000268251;ENST00000396600;ENST00000425191	D;D;D	0.81739	-1.53;-1.53;-1.53	4.1	2.99	0.34606	.	0.314257	0.35615	N	0.003093	T	0.69771	0.3148	L	0.36672	1.1	0.28748	N	0.901563	B	0.02656	0.0	B	0.01281	0.0	T	0.64317	-0.6436	10	0.62326	D	0.03	-2.3346	8.544	0.33410	0.0:0.0:0.2275:0.7725	.	4	P80404	GABT_HUMAN	R	4	ENSP00000268251:M4R;ENSP00000379845:M4R;ENSP00000411916:M4R	ENSP00000268251:M4R	M	+	2	0	ABAT	8737108	0.998000	0.40836	0.855000	0.33649	0.299000	0.27559	1.916000	0.39986	0.781000	0.33589	0.529000	0.55759	ATG	ABAT-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000433619.2		+	ENST00000567812.1	Missense_Mutation	SNP	16 : 8829607 - 8829607 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	80	17
NEURL4	84461	broad.mit.edu	37	17	7226812	7226812	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7226812C>T	ENST00000399464.2	-	14	2424	c.2409G>A	c.(2407-2409)tgG>tgA	p.W803*	NEURL4_ENST00000570460.1_Nonsense_Mutation_p.W781*|NEURL4_ENST00000315614.7_Nonsense_Mutation_p.W803*	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4	NA								p.W803F(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACCTCAGCATCCATGTGTCAT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(2)											127	138	134			NA	NA	17		NA											NA				7226812		2090	4216	6306	SO:0001587	stop_gained				CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041	84461	84461			34410	protein-coding gene	gene with protein product		615865	neuralized homolog 4 (Drosophila)		NA	22261722, 22441691	Standard	NM_032442	NM_001005408	NA	Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.2409G>A	17.37:g.7226812C>T	ENSP00000382390:p.Trp803*	NA		37	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	C	38	7.242072	0.98157	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	.	.	.	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.6908	17.0257	0.86446	0.0:1.0:0.0:0.0	.	.	.	.	X	803	.	ENSP00000319826:W803X	W	-	3	0	NEURL4	7167536	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	7.167000	0.77562	2.571000	0.86741	0.563000	0.77884	TGG	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255434.2		-	ENST00000399464.2	Nonsense_Mutation	SNP	17 : 7226812 - 7226812 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	243	45
FAT3	120114	broad.mit.edu	37	11	92577129	92577129	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92577129T>G	ENST00000525166.1	+	18	10168	c.10146T>G	c.(10144-10146)gtT>gtG	p.V3382V	FAT3_ENST00000298047.6_Silent_p.V3532V|FAT3_ENST00000409404.2_Silent_p.V3532V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3532	Cadherin 31.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCAGCAAGTTTCTCACACTT	0.443		NA								TCGA Ovarian(4;0.039)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	164	166			NA	NA	11		NA											NA				92577129		1920	4135	6055	SO:0001819	synonymous_variant			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323	120114	120114		Cadherins / Cadherin-related	23112	protein-coding gene	gene with protein product	cadherin-related family member 10	612483	FAT tumor suppressor homolog 3 (Drosophila)		NA	11811999	Standard	NM_001008781	NM_001008781	NA	Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000525166.1:c.10146T>G	11.37:g.92577129T>G		NA	B5MDB0|Q96AU6	37																																																																																				FAT3-001	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000335363.3		+	ENST00000525166.1	Silent	SNP	11 : 92577129 - 92577129 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1168	218
GLI2	2736	broad.mit.edu	37	2	121744055	121744055	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:121744055C>T	ENST00000452319.1	+	13	2218	c.2158C>T	c.(2158-2160)Cgc>Tgc	p.R720C	GLI2_ENST00000361492.4_Missense_Mutation_p.R720C|GLI2_ENST00000314490.11_Missense_Mutation_p.R392C			P10070	GLI2_HUMAN	GLI family zinc finger 2	720					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCTCCAGCTGCGCAAACACAT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	57	58			NA	NA	2		NA											NA				121744055		2203	4300	6503	SO:0001583	missense				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047	2736	2736		Zinc fingers, C2H2-type	4318	protein-coding gene	gene with protein product	tax-responsive element-2 holding protein, tax helper protein 1, tax helper protein 2	165230	GLI-Kruppel family member GLI2, glioma-associated oncogene family zinc finger 2		NA	2850480, 9557682	Standard	NM_005270	NM_005270	NA	Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.2158C>T	2.37:g.121744055C>T	ENSP00000390436:p.Arg720Cys	NA	O60252|O60253|O60254|O60255|Q15590|Q15591|Q4JHT4	37	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030883	0.75504	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.18960	2.18;2.18;2.19	4.97	4.97	0.65823	.	0.052506	0.64402	D	0.000001	T	0.50820	0.1638	M	0.86651	2.83	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.99;0.977	T	0.57579	-0.7787	10	0.87932	D	0	.	13.2166	0.59863	0.1984:0.8016:0.0:0.0	.	720;375;375;392	P10070;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.	C	720;720;392	ENSP00000390436:R720C;ENSP00000354586:R720C;ENSP00000312694:R392C	ENSP00000312694:R392C	R	+	1	0	GLI2	121460525	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.359000	0.44142	2.578000	0.87016	0.650000	0.86243	CGC	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000332293.3		+	ENST00000452319.1	Missense_Mutation	SNP	2 : 121744055 - 121744055 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	277	19
BRD4	23476	broad.mit.edu	37	19	15366169	15366169	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15366169G>A	ENST00000263377.2	-	10	2207	c.1986C>T	c.(1984-1986)tcC>tcT	p.S662S	BRD4_ENST00000360016.5_Silent_p.S662S|BRD4_ENST00000371835.4_Silent_p.S662S	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	662					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CACGCAGTGTGGACGGCTTCA	0.582		NA	T	C15orf55	lethal midline carcinoma of young people									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0													78	73	75			NA	NA	19		NA											NA				15366169		2203	4300	6503	SO:0001819	synonymous_variant			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867	23476	23476			13575	protein-coding gene	gene with protein product	chromosome-associated protein	608749	bromodomain-containing 4		NA	10938129	Standard	NM_058243	NM_058243	NA	Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.1986C>T	19.37:g.15366169G>A		NA	O60433|Q86YS8|Q96PD3	37	CCDS12328.1																																																																																			BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465800.3		-	ENST00000263377.2	Silent	SNP	19 : 15366169 - 15366169 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	363	20
SPTA1	6708	broad.mit.edu	37	1	158626413	158626413	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158626413C>T	ENST00000368147.4	-	20	3019	c.2839G>A	c.(2839-2841)Gat>Aat	p.D947N		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	NA					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAATTGAGATCTAATAGAAAG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	164	164			NA	NA	1		NA											NA				158626413		1840	4085	5925	SO:0001583	missense			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554	6708	6708		EF-hand domain containing	11272	protein-coding gene	gene with protein product	elliptocytosis 2	182860	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		NA		Standard	NM_003126	NM_003126	NA	Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2839G>A	1.37:g.158626413C>T	ENSP00000357129:p.Asp947Asn	NA	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	33	5.274421	0.95459	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.69561	-0.41;-0.41	5.5	5.5	0.81552	.	0.000000	0.33110	N	0.005265	T	0.82259	0.4998	M	0.86573	2.825	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.82649	-0.0353	10	0.51188	T	0.08	.	18.1469	0.89661	0.0:1.0:0.0:0.0	.	947	P02549	SPTA1_HUMAN	N	947	ENSP00000357130:D947N;ENSP00000357129:D947N	ENSP00000357129:D947N	D	-	1	0	SPTA1	156893037	1.000000	0.71417	0.996000	0.52242	0.916000	0.54674	6.502000	0.73695	2.861000	0.98227	0.655000	0.94253	GAT	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051851.3		-	ENST00000368147.4	Missense_Mutation	SNP	1 : 158626413 - 158626413 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	761	163
PRDM9	56979	broad.mit.edu	37	5	23522797	23522797	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:23522797G>A	ENST00000296682.3	+	8	867	c.685G>A	c.(685-687)Gca>Aca	p.A229T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	229					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAAGGACAGTGCAGTGGACAA	0.552		NA								HNSCC(3;0.000094)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	52	53			NA	NA	5		NA											NA				23522797		2203	4300	6503	SO:0001583	missense			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256	56979	56979		-, Zinc fingers, C2H2-type	13994	protein-coding gene	gene with protein product	PR-domain containing protein 9	609760	minisatellite binding protein 3, 115kDa, minisatellite binding protein 3 (115kD)	MSBP3	NA	10668202, 2062643, 24634223	Standard	NM_020227	NM_020227	NA	Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.685G>A	5.37:g.23522797G>A	ENSP00000296682:p.Ala229Thr	NA	B4DX22|Q27Q50	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198050	0.38806	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.50001	0.76	4.28	-1.93	0.07594	.	0.247922	0.21003	N	0.081821	T	0.28830	0.0715	L	0.42686	1.345	0.09310	N	1	B	0.22800	0.075	B	0.14023	0.01	T	0.10245	-1.0638	10	0.23302	T	0.38	-0.7371	3.8134	0.08806	0.1023:0.4634:0.2774:0.1569	.	229	Q9NQV7	PRDM9_HUMAN	T	229;23	ENSP00000296682:A229T	ENSP00000253473:A23T	A	+	1	0	PRDM9	23558554	0.000000	0.05858	0.002000	0.10522	0.906000	0.53458	0.056000	0.14256	-0.259000	0.09432	0.597000	0.82753	GCA	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366375.1		+	ENST00000296682.3	Missense_Mutation	SNP	5 : 23522797 - 23522797 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	244	37
GARS	2617	broad.mit.edu	37	7	30640803	30640803	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30640803G>A	ENST00000389266.3	+	4	797	c.556G>A	c.(556-558)Gag>Aag	p.E186K		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	186					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GCTCACCCCTGAGCCAGTTTT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	86	88			NA	NA	7		NA											NA				30640803		1892	4116	6008	SO:0001583	missense			AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	2617	2617	6.1.1.14	Aminoacyl tRNA synthetases / Class II	4162	protein-coding gene	gene with protein product	glycine tRNA ligase	600287	Charcot-Marie-Tooth neuropathy 2D	CMT2D	NA	8595897, 8872480	Standard	NM_002047	NM_002047	NA	Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.556G>A	7.37:g.30640803G>A	ENSP00000373918:p.Glu186Lys	NA	B3KQA2|B4DIA0|Q969Y1	37	CCDS43564.1	.	.	.	.	.	.	.	.	.	.	G	31	5.074508	0.94000	.	.	ENSG00000106105	ENST00000389266	T	0.68181	-0.31	5.69	4.77	0.60923	Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.045743	0.85682	D	0.000000	T	0.70622	0.3245	L	0.53671	1.685	0.80722	D	1	D	0.53745	0.962	P	0.50970	0.655	T	0.73924	-0.3829	10	0.72032	D	0.01	-19.5156	15.265	0.73654	0.0:0.141:0.859:0.0	.	186	P41250	SYG_HUMAN	K	186	ENSP00000373918:E186K	ENSP00000373918:E186K	E	+	1	0	GARS	30607328	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.757000	0.98924	2.857000	0.98124	0.650000	0.86243	GAG	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327735.1		+	ENST00000389266.3	Missense_Mutation	SNP	7 : 30640803 - 30640803 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	412	87
PACRGL	133015	broad.mit.edu	37	4	20706376	20706376	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20706376A>C	ENST00000502374.1	+	3	283	c.146A>C	c.(145-147)gAg>gCg	p.E49A	PACRGL_ENST00000503585.1_Missense_Mutation_p.E49A|PACRGL_ENST00000444671.2_Missense_Mutation_p.E49A|PACRGL_ENST00000513459.1_Missense_Mutation_p.E49A|PACRGL_ENST00000538990.1_Missense_Mutation_p.E49A|PACRGL_ENST00000295290.8_Missense_Mutation_p.E49A|PACRGL_ENST00000502938.1_Missense_Mutation_p.E49A|PACRGL_ENST00000507634.1_Missense_Mutation_p.E49A|PACRGL_ENST00000360916.5_Missense_Mutation_p.E49A	NM_001258346.1	NP_001245275.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	49							binding			endometrium(2)|lung(7)|prostate(1)	10						AGTTCTCCAGAGTCTGCAAGA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	129	133			NA	NA	4		NA											NA				20706376		2203	4300	6503	SO:0001583	missense			AK098692	CCDS3427.1, CCDS47034.1, CCDS58895.1, CCDS58896.1	4p15.31	2008-10-02	2008-10-02	2008-10-02	ENSG00000163138	ENSG00000163138	133015	133015			28442	protein-coding gene	gene with protein product			chromosome 4 open reading frame 28	C4orf28	NA	12477932	Standard	NM_145048	NM_145048	NA	Approved	MGC29898	uc010iek.3	Q8N7B6	OTTHUMG00000128550	ENST00000502374.1:c.146A>C	4.37:g.20706376A>C	ENSP00000425461:p.Glu49Ala	NA	B2RDB9|Q8TBA8	37	CCDS58896.1	.	.	.	.	.	.	.	.	.	.	A	18.66	3.670657	0.67814	.	.	ENSG00000163138	ENST00000510051;ENST00000503585;ENST00000360916;ENST00000295290;ENST00000514485;ENST00000444671;ENST00000506745;ENST00000514663;ENST00000509469;ENST00000515339;ENST00000513861;ENST00000502374;ENST00000538990;ENST00000504630;ENST00000513590;ENST00000514292;ENST00000502938;ENST00000507634;ENST00000513459;ENST00000511089	.	.	.	5.56	3.07	0.35406	.	0.389405	0.26923	N	0.021802	T	0.29223	0.0727	L	0.54323	1.7	0.29518	N	0.853726	D;P;P;B;B;P	0.54601	0.967;0.605;0.799;0.264;0.104;0.675	P;B;B;B;B;B	0.45971	0.499;0.204;0.272;0.124;0.058;0.298	T	0.12889	-1.0530	9	0.10111	T	0.7	-6.607	4.8074	0.13326	0.7167:0.0:0.1419:0.1414	.	49;49;97;49;49;49	B4DFF8;Q8N7B6;D6R9N9;B4DMN7;D6RGK2;Q8N7B6-2	.;PACRL_HUMAN;.;.;.;.	A	97;49;49;49;49;49;49;49;49;49;49;49;49;49;49;49;49;49;49;49	.	ENSP00000295290:E49A	E	+	2	0	PACRGL	20315474	0.985000	0.35326	0.766000	0.31476	0.978000	0.69477	2.811000	0.47986	1.006000	0.39211	0.533000	0.62120	GAG	PACRGL-015	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362118.2		+	ENST00000502374.1	Missense_Mutation	SNP	4 : 20706376 - 20706376 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	561	94
KIAA1432	0	broad.mit.edu	37	9	5754862	5754862	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5754862G>T	ENST00000414202.2	+	15	1815	c.1624G>T	c.(1624-1626)Ggt>Tgt	p.G542C	KIAA1432_ENST00000251879.6_Missense_Mutation_p.G542C|KIAA1432_ENST00000418622.3_Missense_Mutation_p.G463C|KIAA1432_ENST00000381532.2_Missense_Mutation_p.G463C|KIAA1432_ENST00000449720.2_Missense_Mutation_p.G426C	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN		542						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GATCGTGACAGGTGGCTTAGC	0.284		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	86	85			NA	NA	9		NA											NA				5754862		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000414202.2:c.1624G>T	9.37:g.5754862G>T	ENSP00000416696:p.Gly542Cys	NA	Q4VXJ8|Q4VXJ9|Q76MT5|Q8N6E0|Q8TEH4|Q9H0A5|Q9H9S1	37	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.556094|4.556094	0.86231|0.86231	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720|ENST00000545641	T;T;T;T|.	0.48836|.	0.8;0.8;0.8;0.8|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83312|0.83312	0.5227|0.5227	M|M	0.86343|0.86343	2.81|2.81	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0|.	D|D	0.85636|0.85636	0.1273|0.1273	10|5	0.56958|.	D|.	0.05|.	-16.3166|-16.3166	18.6183|18.6183	0.91312|0.91312	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	426;463;542;542|.	B7ZM67;B2RN24;Q4ADV7;G5E932|.	.;.;RIC1_HUMAN;.|.	C|M	542;542;463;463;426|433	ENSP00000251879:G542C;ENSP00000416696:G542C;ENSP00000370943:G463C;ENSP00000402240:G463C|.	ENSP00000251879:G542C|.	G|R	+|+	1|2	0|0	KIAA1432|KIAA1432	5744862|5744862	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.184000|9.184000	0.94893|0.94893	2.379000|2.379000	0.81126|0.81126	0.650000|0.650000	0.86243|0.86243	GGT|AGG	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051636.3		+	ENST00000414202.2	Missense_Mutation	SNP	9 : 5754862 - 5754862 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	493	40
SELO	0	broad.mit.edu	37	22	50648614	50648614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50648614C>T	ENST00000380903.2	+	4	1002	c.944C>T	c.(943-945)aCg>aTg	p.T315M	SELO_ENST00000492092.1_3'UTR	NM_031454.1	NP_113642.1	Q9BVL4	SELO_HUMAN		NA											NA		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CCCCAGGTGACGCGGCGCACG	0.662		NA									OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	40	37			NA	NA	22		NA											NA				50648614		2138	4225	6363	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000380903.2:c.944C>T	22.37:g.50648614C>T	ENSP00000370288:p.Thr315Met	971	Q2TAL2|Q5JZ81|Q8WUI0	37	CCDS43034.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.260669	0.59431	.	.	ENSG00000073169	ENST00000380903	T	0.41758	0.99	5.19	3.05	0.35203	.	0.211356	0.49305	D	0.000146	T	0.37839	0.1018	L	0.33245	0.995	0.48185	D	0.999602	P;P	0.52577	0.95;0.954	P;B	0.49361	0.608;0.36	T	0.07214	-1.0784	10	0.37606	T	0.19	.	10.5425	0.45041	0.0:0.7939:0.1337:0.0724	.	315;158	Q9BVL4;Q6ICA4	SELO_HUMAN;.	M	315	ENSP00000370288:T315M	ENSP00000370288:T315M	T	+	2	0	RP3-402G11.5	48990741	0.946000	0.32159	0.618000	0.29105	0.700000	0.40528	1.945000	0.40273	0.721000	0.32231	0.561000	0.74099	ACG	SELO-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	NA	protein_coding	OTTHUMT00000075003.2		+	ENST00000380903.2	Missense_Mutation	SNP	22 : 50648614 - 50648614 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	290	67
FCGBP	8857	broad.mit.edu	37	19	40362919	40362919	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40362919C>T	ENST00000221347.6	-	32	15158	c.15151G>A	c.(15151-15153)Ggg>Agg	p.G5051R		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5051	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGGAGCTGCCCGCAGGCCTCG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	53	50			NA	NA	19		NA											NA				40362919		2203	4299	6502	SO:0001583	missense			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395	8857	8857			13572	protein-coding gene	gene with protein product	IgG Fc binding protein, Human Fc gamma BP				NA	9182547	Standard	NM_003890	NM_003890	NA	Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15151G>A	19.37:g.40362919C>T	ENSP00000221347:p.Gly5051Arg	NA	O95784	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.031002	0.54790	.	.	ENSG00000090920	ENST00000221347	T	0.76709	-1.04	4.84	4.84	0.62591	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	0.000000	0.64402	U	0.000001	D	0.87861	0.6284	M	0.82517	2.595	0.40004	D	0.975208	D	0.89917	1.0	D	0.97110	1.0	D	0.87291	0.2299	10	0.33141	T	0.24	.	14.9744	0.71261	0.0:1.0:0.0:0.0	.	5051	Q9Y6R7	FCGBP_HUMAN	R	5051	ENSP00000221347:G5051R	ENSP00000221347:G5051R	G	-	1	0	FCGBP	45054759	0.047000	0.20315	0.851000	0.33527	0.103000	0.19146	1.926000	0.40084	2.521000	0.84997	0.462000	0.41574	GGG	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462507.1		-	ENST00000221347.6	Missense_Mutation	SNP	19 : 40362919 - 40362919 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	701	155
CLEC11A	6320	broad.mit.edu	37	19	51228461	51228461	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51228461C>T	ENST00000250340.4	+	4	906	c.709C>T	c.(709-711)Ccc>Tcc	p.P237S	CLEC11A_ENST00000599973.1_Missense_Mutation_p.A253V	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	237	C-type lectin.				positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding			kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CTACAACTGGCCCGTGTGGCT	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													7	10	9			NA	NA	19		NA											NA				51228461		2126	4215	6341	SO:0001583	missense			AF087658	CCDS12800.1	19q13.3	2010-04-27	2005-02-09	2005-02-11		ENSG00000105472	6320	6320		C-type lectin domain containing	10576	protein-coding gene	gene with protein product		604713	stem cell growth factor; lymphocyte secreted C-type lectin	SCGF	NA	9207134, 9442024	Standard	NM_002975	NM_002975	NA	Approved	P47, LSLCL, CLECSF3	uc002psy.3	Q9Y240		ENST00000250340.4:c.709C>T	19.37:g.51228461C>T	ENSP00000250340:p.Pro237Ser	NA	B2RAD4	37	CCDS12800.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892560	0.91889	.	.	ENSG00000105472	ENST00000250340	T	0.15952	2.38	3.91	3.91	0.45181	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.212847	0.39834	N	0.001246	T	0.27967	0.0689	L	0.28400	0.85	0.58432	D	0.999997	D	0.89917	1.0	D	0.75484	0.986	T	0.02519	-1.1147	10	0.27785	T	0.31	-23.8668	15.1898	0.73035	0.0:1.0:0.0:0.0	.	237	Q9Y240	CLC11_HUMAN	S	237	ENSP00000250340:P237S	ENSP00000250340:P237S	P	+	1	0	CLEC11A	55920273	1.000000	0.71417	0.995000	0.50966	0.923000	0.55619	6.160000	0.71862	2.177000	0.69029	0.455000	0.32223	CCC	CLEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464062.1		+	ENST00000250340.4	Missense_Mutation	SNP	19 : 51228461 - 51228461 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	67	10
IQGAP2	10788	broad.mit.edu	37	5	76003126	76003126	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76003126C>T	ENST00000274364.6	+	36	5013	c.4716C>T	c.(4714-4716)ttC>ttT	p.F1572F	IQGAP2_ENST00000379730.3_Silent_p.F1074F|IQGAP2_ENST00000502745.1_Silent_p.F1068F|IQGAP2_ENST00000396234.3_Silent_p.F1068F|CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000508410.1_3'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1572					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ACAAGAAGTTCTATGGAAAGT	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	67	67			NA	NA	5		NA											NA				76003126		2203	4298	6501	SO:0001819	synonymous_variant			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703	10788	10788			6111	protein-coding gene	gene with protein product		605401			NA	8756646	Standard	NM_006633	XM_005248409	NA	Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.4716C>T	5.37:g.76003126C>T		NA	A8K4V1|B7Z8A4	37	CCDS34188.1																																																																																			IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368877.1		+	ENST00000274364.6	Silent	SNP	5 : 76003126 - 76003126 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	212	8
CHST8	64377	broad.mit.edu	37	19	34263210	34263210	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34263210C>T	ENST00000262622.4	+	4	1275	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	CHST8_ENST00000434302.1_Missense_Mutation_p.R173C|CHST8_ENST00000438847.3_Missense_Mutation_p.R173C	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	NA					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GAGCAGCAGCCGCCGGGCCGT	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	13	13			NA	NA	19		NA											NA				34263210		2168	4219	6387	SO:0001583	missense			AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302	64377	64377		Sulfotransferases, membrane-bound	15993	protein-coding gene	gene with protein product		610190			NA	10988300, 11001942	Standard	NM_022467	NM_001127895	NA	Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.517C>T	19.37:g.34263210C>T	ENSP00000262622:p.Arg173Cys	NA	Q9H3N2	37	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.547527	0.65311	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.75477	-0.94;-0.94;-0.94	4.93	4.93	0.64822	.	0.420672	0.21221	N	0.078156	T	0.76955	0.4060	L	0.32530	0.975	0.49582	D	0.9998	D	0.76494	0.999	D	0.63703	0.917	T	0.75233	-0.3390	10	0.36615	T	0.2	-4.1341	12.8387	0.57788	0.1745:0.8255:0.0:0.0	.	173	Q9H2A9	CHST8_HUMAN	C	173	ENSP00000392604:R173C;ENSP00000393879:R173C;ENSP00000262622:R173C	ENSP00000262622:R173C	R	+	1	0	CHST8	38955050	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	2.078000	0.41567	2.262000	0.75019	0.478000	0.44815	CGC	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451453.1		+	ENST00000262622.4	Missense_Mutation	SNP	19 : 34263210 - 34263210 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	231	45
ENTPD4	9583	broad.mit.edu	37	8	23302059	23302059	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23302059T>C	ENST00000358689.4	-	5	708	c.473A>G	c.(472-474)aAc>aGc	p.N158S	ENTPD4_ENST00000356206.6_Missense_Mutation_p.N158S|ENTPD4_ENST00000417069.2_Missense_Mutation_p.N158S	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	158					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		TGCAGCAAAGTTCAAAAGTGG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	118	117			NA	NA	8		NA											NA				23302059		2203	4300	6503	SO:0001583	missense			AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217	9583	9583			14573	protein-coding gene	gene with protein product		607577	lysosomal apyrase-like 1	LYSAL1	NA	10393803, 9205841	Standard	NM_004901	NM_001128930	NA	Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.473A>G	8.37:g.23302059T>C	ENSP00000351520:p.Asn158Ser	NA	D3DSS3|O15092	37	CCDS6041.1	.	.	.	.	.	.	.	.	.	.	T	3.244	-0.154725	0.06544	.	.	ENSG00000197217	ENST00000356206;ENST00000358689;ENST00000417069;ENST00000518718	T;T;T;T	0.10960	2.82;2.82;2.82;2.82	5.79	0.318	0.15867	.	0.342519	0.40554	N	0.001071	T	0.02649	0.0080	N	0.00991	-1.07	0.23969	N	0.996317	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.001;0.003;0.0;0.001	T	0.46775	-0.9167	10	0.07482	T	0.82	-13.5026	10.1041	0.42521	0.0:0.3229:0.0:0.6771	.	158;158;158;158	B4DU21;Q8NE73;Q9Y227-2;Q9Y227	.;.;.;ENTP4_HUMAN	S	158;158;158;124	ENSP00000348536:N158S;ENSP00000351520:N158S;ENSP00000408573:N158S;ENSP00000429455:N124S	ENSP00000348536:N158S	N	-	2	0	ENTPD4	23358004	0.999000	0.42202	0.995000	0.50966	0.991000	0.79684	0.624000	0.24462	0.126000	0.18424	0.460000	0.39030	AAC	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000215142.1		-	ENST00000358689.4	Missense_Mutation	SNP	8 : 23302059 - 23302059 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	467	96
AK7	122481	broad.mit.edu	37	14	96887164	96887164	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96887164T>G	ENST00000267584.4	+	5	548	c.504T>G	c.(502-504)gaT>gaG	p.D168E	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	168					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		AATAGGAGGATTCTGAGGTTC	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	67	66			NA	NA	14		NA											NA				96887164		2203	4300	6503	SO:0001583	missense			AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057	122481	122481		Adenylate kinases	20091	protein-coding gene	gene with protein product		615364			NA		Standard		NM_152327	NA	Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.504T>G	14.37:g.96887164T>G	ENSP00000267584:p.Asp168Glu	NA	Q8IYP6	37	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.021001	0.54576	.	.	ENSG00000140057	ENST00000267584	T	0.64803	-0.12	5.21	-3.58	0.04597	NAD(P)-binding domain (1);	0.107337	0.64402	D	0.000009	T	0.72236	0.3435	M	0.84585	2.705	0.26550	N	0.973937	D	0.55605	0.972	P	0.58013	0.831	T	0.70270	-0.4918	10	0.72032	D	0.01	-40.7125	11.2731	0.49150	0.0:0.4445:0.0:0.5555	.	168	Q96M32	KAD7_HUMAN	E	168	ENSP00000267584:D168E	ENSP00000267584:D168E	D	+	3	2	AK7	95956917	0.024000	0.19004	0.001000	0.08648	0.187000	0.23431	0.008000	0.13197	-0.996000	0.03455	-0.441000	0.05720	GAT	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413340.1		+	ENST00000267584.4	Missense_Mutation	SNP	14 : 96887164 - 96887164 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	54
BMPR2	659	broad.mit.edu	37	2	203395674	203395674	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:203395674C>T	ENST00000374574.2	+	8	1166	c.1125C>T	c.(1123-1125)agC>agT	p.S375S	BMPR2_ENST00000374580.4_Silent_p.S375S			Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	375	Protein kinase.				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						CAGCCATAAGCGAGGTGAGTG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	68	68			NA	NA	2		NA											NA				203395674		2203	4300	6503	SO:0001819	synonymous_variant			Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217	659	659			1078	protein-coding gene	gene with protein product		600799	primary pulmonary hypertension 1	PPH1	NA	7791754	Standard	NM_001204	NM_001204	NA	Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374574.2:c.1125C>T	2.37:g.203395674C>T		NA	Q16569|Q4ZG08|Q53SA5|Q585T8	37																																																																																				BMPR2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000257744.1		+	ENST00000374574.2	Silent	SNP	2 : 203395674 - 203395674 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	279	25
FCGRT	2217	broad.mit.edu	37	19	50027917	50027917	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50027917A>G	ENST00000221466.5	+	5	1241	c.755A>G	c.(754-756)aAc>aGc	p.N252S	FCGRT_ENST00000594823.1_3'UTR|FCGRT_ENST00000596975.1_Missense_Mutation_p.N160S|FCGRT_ENST00000426395.3_Missense_Mutation_p.N252S|FCGRT_ENST00000599988.1_Intron	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	252	Alpha-3.				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		TTCGGCCCCAACAGTGACGGA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	66	70			NA	NA	19		NA											NA				50027917		2203	4300	6503	SO:0001583	missense			U12255	CCDS12770.1	19q13.3	2013-01-11				ENSG00000104870	2217	2217		Immunoglobulin superfamily / C1-set domain containing	3621	protein-coding gene	gene with protein product		601437			NA	7964511, 8646894	Standard		NM_001136019	NA	Approved	FCRN, alpha-chain	uc002pog.2	P55899		ENST00000221466.5:c.755A>G	19.37:g.50027917A>G	ENSP00000221466:p.Asn252Ser	NA	Q5HYM5|Q9HBV7|Q9NZ19	37	CCDS12770.1	.	.	.	.	.	.	.	.	.	.	A	7.758	0.704719	0.15172	.	.	ENSG00000104870	ENST00000221466;ENST00000426395	T;T	0.00623	6.15;6.15	4.31	3.3	0.37823	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.000000	0.48767	D	0.000176	T	0.01976	0.0062	L	0.52823	1.66	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.62186	-0.6907	10	0.59425	D	0.04	.	6.6251	0.22824	0.8912:0.0:0.1088:0.0	.	252	P55899	FCGRN_HUMAN	S	252	ENSP00000221466:N252S;ENSP00000410798:N252S	ENSP00000221466:N252S	N	+	2	0	FCGRT	54719729	0.997000	0.39634	0.762000	0.31397	0.105000	0.19272	3.973000	0.56845	0.817000	0.34445	0.379000	0.24179	AAC	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465267.1		+	ENST00000221466.5	Missense_Mutation	SNP	19 : 50027917 - 50027917 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	14
KLHL36	79786	broad.mit.edu	37	16	84695391	84695391	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84695391C>T	ENST00000564996.1	+	5	1644	c.1503C>T	c.(1501-1503)agC>agT	p.S501S	KLHL36_ENST00000258157.5_Silent_p.S438S	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	501										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TCGGGGGCAGCGATGACAACA	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4398		0,0,2199	67	60	62		1503	-3.6	1	16		62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KLHL36	NM_024731.2		0,1,6498	TT,TC,CC	NA	0.0116,0.0,0.0077		501/617	84695391	1,12997	2199	4300	6499	SO:0001819	synonymous_variant			AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686	79786	79786		Kelch-like, BTB/POZ domain containing	17844	protein-coding gene	gene with protein product			chromosome 16 open reading frame 44, kelch-like 36 (Drosophila)	C16orf44	NA		Standard		NM_024731	NA	Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.1503C>T	16.37:g.84695391C>T		NA	Q8N5G6|Q9H9U6	37	CCDS10948.1																																																																																			KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269084.2		+	ENST00000564996.1	Silent	SNP	16 : 84695391 - 84695391 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	357	96
MFF	56947	broad.mit.edu	37	2	228195439	228195439	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228195439C>T	ENST00000353339.3	+	4	577	c.136C>T	c.(136-138)Cga>Tga	p.R46*	MFF_ENST00000304593.9_Nonsense_Mutation_p.R20*|MFF_ENST00000337110.7_Nonsense_Mutation_p.R20*|MFF_ENST00000392059.1_Nonsense_Mutation_p.R46*|MFF_ENST00000354503.6_Nonsense_Mutation_p.R20*|MFF_ENST00000349901.7_Nonsense_Mutation_p.R20*|MFF_ENST00000524634.1_Intron|MFF_ENST00000409565.1_Nonsense_Mutation_p.R20*|MFF_ENST00000409616.1_Nonsense_Mutation_p.R20*|MFF_ENST00000476924.1_Intron	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	46						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						CATTAGTCAGCGAATGAGGGT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	75	79			NA	NA	2		NA											NA				228195439		2203	4300	6503	SO:0001587	stop_gained			AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958	56947	56947			24858	protein-coding gene	gene with protein product		614785	chromosome 2 open reading frame 33	C2orf33	NA	18353969	Standard	NM_020194	NM_001277061	NA	Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.136C>T	2.37:g.228195439C>T	ENSP00000302037:p.Arg46*	NA	Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	37	CCDS2465.1	.	.	.	.	.	.	.	.	.	.	C	37	6.138563	0.97315	.	.	ENSG00000168958	ENST00000423098;ENST00000304593;ENST00000353339;ENST00000354503;ENST00000409565;ENST00000452930;ENST00000409616;ENST00000337110;ENST00000525195;ENST00000349901;ENST00000443428;ENST00000418961;ENST00000392059	.	.	.	5.8	4.87	0.63330	.	0.108684	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5244	13.5124	0.61519	0.3271:0.6729:0.0:0.0	.	.	.	.	X	20;20;46;20;20;20;20;20;20;20;46;20;46	.	ENSP00000304898:R20X	R	+	1	2	MFF	227903683	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.257000	0.32932	2.741000	0.93983	0.650000	0.86243	CGA	MFF-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256887.2		+	ENST00000353339.3	Nonsense_Mutation	SNP	2 : 228195439 - 228195439 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	87
GBF1	8729	broad.mit.edu	37	10	104121533	104121533	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104121533A>G	ENST00000369983.3	+	14	1807	c.1547A>G	c.(1546-1548)gAg>gGg	p.E516G		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	516					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ATGCCTTATGAGATGAAGGAG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	121	126			NA	NA	10		NA											NA				104121533		2203	4300	6503	SO:0001583	missense			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862	8729	8729			4181	protein-coding gene	gene with protein product		603698	golgi-specific brefeldin A resistance factor 1		NA	9828135	Standard		NM_004193	NA	Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.1547A>G	10.37:g.104121533A>G	ENSP00000359000:p.Glu516Gly	NA	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	37	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	A	33	5.211557	0.95069	.	.	ENSG00000107862	ENST00000369983	T	0.47528	0.84	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.75317	0.3833	M	0.90425	3.115	0.80722	D	1	D;P;D	0.89917	1.0;0.832;1.0	D;P;D	0.91635	0.999;0.741;0.998	T	0.80082	-0.1531	10	0.62326	D	0.03	-20.0851	16.8222	0.85835	1.0:0.0:0.0:0.0	.	516;516;516	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	G	516	ENSP00000359000:E516G	ENSP00000359000:E516G	E	+	2	0	GBF1	104111523	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	9.305000	0.96197	2.371000	0.80710	0.533000	0.62120	GAG	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050051.1		+	ENST00000369983.3	Missense_Mutation	SNP	10 : 104121533 - 104121533 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	431	69
UROC1	131669	broad.mit.edu	37	3	126211352	126211352	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126211352C>T	ENST00000290868.2	-	16	1570	c.1517G>A	c.(1516-1518)gGc>gAc	p.G506D	UROC1_ENST00000383579.3_Missense_Mutation_p.G566D	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	506					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TGCCTGGGAGCCCACCACCTG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	55	63			NA	NA	3		NA											NA				126211352		2203	4300	6503	SO:0001583	missense			AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	131669	131669	4.2.1.49		26444	protein-coding gene	gene with protein product	urocanase 1	613012	urocanase domain containing 1		NA	19304569	Standard	NM_144639	NM_144639	NA	Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1517G>A	3.37:g.126211352C>T	ENSP00000290868:p.Gly506Asp	NA	Q14C64	37	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593557	0.86953	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.72725	-0.68;-0.68	4.79	4.79	0.61399	Urocanase domain (2);	0.000000	0.85682	D	0.000000	D	0.89591	0.6759	H	0.97918	4.105	0.80722	D	1	D;D	0.56035	0.965;0.974	P;D	0.68192	0.866;0.956	D	0.93392	0.6752	10	0.87932	D	0	-20.383	15.3337	0.74234	0.0:1.0:0.0:0.0	.	566;506	E9PE13;Q96N76	.;HUTU_HUMAN	D	506;566	ENSP00000290868:G506D;ENSP00000373073:G566D	ENSP00000290868:G506D	G	-	2	0	UROC1	127694042	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	6.942000	0.75928	2.189000	0.69895	0.484000	0.47621	GGC	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370325.2		-	ENST00000290868.2	Missense_Mutation	SNP	3 : 126211352 - 126211352 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	132	28
NOTCH4	4855	broad.mit.edu	37	6	32190387	32190387	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32190387G>A	ENST00000375023.3	-	3	490	c.352C>T	c.(352-354)Ctt>Ttt	p.L118F		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	118	EGF-like 3.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGGTCTTCAAGCTTGGCCTGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	69	67			NA	NA	6		NA											NA				32190387		2203	4300	6503	SO:0001583	missense				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301	4855	4855		Ankyrin repeat domain containing	7884	protein-coding gene	gene with protein product		164951	Notch (Drosophila) homolog 4, Notch homolog 4 (Drosophila)	INT3	NA	7835890	Standard		NM_004557	NA	Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.352C>T	6.37:g.32190387G>A	ENSP00000364163:p.Leu118Phe	NA	B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	37	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	4.988	0.183465	0.09495	.	.	ENSG00000204301	ENST00000375023	D	0.81996	-1.56	4.14	3.27	0.37495	Epidermal growth factor-like, type 3 (1);	0.000000	0.38058	N	0.001823	T	0.67277	0.2876	L	0.38175	1.15	0.09310	N	0.999999	D;P	0.56035	0.974;0.846	P;B	0.50136	0.632;0.157	T	0.60652	-0.7221	10	0.45353	T	0.12	.	7.1824	0.25780	0.0:0.1898:0.614:0.1962	.	118;118	Q6P3V5;Q99466	.;NOTC4_HUMAN	F	118	ENSP00000364163:L118F	ENSP00000364163:L118F	L	-	1	0	NOTCH4	32298365	0.000000	0.05858	0.046000	0.18839	0.067000	0.16453	0.693000	0.25497	0.963000	0.38082	-0.219000	0.12488	CTT	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076045.2		-	ENST00000375023.3	Missense_Mutation	SNP	6 : 32190387 - 32190387 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	554	99
USP13	8975	broad.mit.edu	37	3	179481862	179481862	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179481862C>A	ENST00000263966.3	+	18	2636	c.2165C>A	c.(2164-2166)tCt>tAt	p.S722Y	USP13_ENST00000496897.1_Missense_Mutation_p.S657Y	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	722					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TTTGGTGCTTCTGGACTGGAT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	107	112			NA	NA	3		NA											NA				179481862		2203	4300	6503	SO:0001583	missense			U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056	8975	8975		Ubiquitin-specific peptidases	12611	protein-coding gene	gene with protein product		603591	ubiquitin specific protease 13 (isopeptidase T-3)		NA	12838346	Standard		NM_003940	NA	Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.2165C>A	3.37:g.179481862C>A	ENSP00000263966:p.Ser722Tyr	NA	D3DNS2|Q96B25	37	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.455376	0.63401	.	.	ENSG00000058056	ENST00000263966;ENST00000496897	T;T	0.16196	2.36;2.36	5.87	3.86	0.44501	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);UBA-like (1);	0.417256	0.28488	N	0.015161	T	0.10508	0.0257	N	0.14661	0.345	0.27348	N	0.95632	P	0.35527	0.507	B	0.40038	0.317	T	0.09818	-1.0657	10	0.62326	D	0.03	-3.585	4.3932	0.11350	0.1825:0.5773:0.0:0.2402	.	722	Q92995	UBP13_HUMAN	Y	722;657	ENSP00000263966:S722Y;ENSP00000417146:S657Y	ENSP00000263966:S722Y	S	+	2	0	USP13	180964556	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	0.965000	0.29319	1.495000	0.48549	0.591000	0.81541	TCT	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349617.1		+	ENST00000263966.3	Missense_Mutation	SNP	3 : 179481862 - 179481862 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	489	90
FN1	2335	broad.mit.edu	37	2	216292951	216292951	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216292951C>A	ENST00000354785.4	-	6	1165	c.796G>T	c.(796-798)Gga>Tga	p.G266*	FN1_ENST00000346544.3_Nonsense_Mutation_p.G266*|FN1_ENST00000359671.1_Nonsense_Mutation_p.G266*|FN1_ENST00000446046.1_Nonsense_Mutation_p.G266*|FN1_ENST00000421182.1_Nonsense_Mutation_p.G266*|FN1_ENST00000357009.2_Nonsense_Mutation_p.G266*|FN1_ENST00000426059.1_Nonsense_Mutation_p.G266*|FN1_ENST00000432072.2_Nonsense_Mutation_p.G266*|FN1_ENST00000323926.6_Nonsense_Mutation_p.G266*|FN1_ENST00000443816.1_Nonsense_Mutation_p.G266*|FN1_ENST00000336916.4_Nonsense_Mutation_p.G266*|FN1_ENST00000357867.4_Nonsense_Mutation_p.G266*|FN1_ENST00000356005.4_Nonsense_Mutation_p.G266*|FN1_ENST00000345488.5_Nonsense_Mutation_p.G266*			P02751	FINC_HUMAN	fibronectin 1	266	Fibrin- and heparin-binding 1.|Fibronectin type-I 5.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCCACTCTCCTCGGCCGTTG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	108	114			NA	NA	2		NA											NA				216292951		2203	4300	6503	SO:0001587	stop_gained				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414	2335	2335		Fibronectin type III domain containing, Endogenous ligands	3778	protein-coding gene	gene with protein product	migration-stimulating factor, cold-insoluble globulin	135600			NA	2992939, 3003095	Standard	NM_212476	NM_054034	NA	Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000354785.4:c.796G>T	2.37:g.216292951C>A	ENSP00000346839:p.Gly266*	NA	O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	37	CCDS42814.1	.	.	.	.	.	.	.	.	.	.	C	41	9.094722	0.99064	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	.	.	.	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	.	.	.	X	266	.	ENSP00000265313:G266X	G	-	1	0	FN1	216001196	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.445000	0.80570	2.941000	0.99782	0.655000	0.94253	GGA	FN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256667.2		-	ENST00000354785.4	Nonsense_Mutation	SNP	2 : 216292951 - 216292951 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	465	82
UBXN6	80700	broad.mit.edu	37	19	4454072	4454072	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4454072C>A	ENST00000301281.6	-	2	226	c.102G>T	c.(100-102)gaG>gaT	p.E34D	UBXN6_ENST00000394765.3_5'UTR|CTB-50L17.9_ENST00000592034.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	34						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						GGTTGGGCTTCTCTTTGTGGG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	120	114			NA	NA	19		NA											NA				4454072		2203	4300	6503	SO:0001583	missense			AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671	80700	80700		UBX domain containing	14928	protein-coding gene	gene with protein product		611946	UBX domain-containing 1, UBX domain containing 1	UBXD1	NA	11342112	Standard	NM_025241	NM_025241	NA	Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.102G>T	19.37:g.4454072C>A	ENSP00000301281:p.Glu34Asp	NA	D6W626|Q96AH1|Q96IK9|Q9BZV0	37	CCDS12129.1	.	.	.	.	.	.	.	.	.	.	C	6.605	0.479950	0.12581	.	.	ENSG00000167671	ENST00000301281	T	0.42513	0.97	4.13	-8.12	0.01078	.	1.423740	0.04598	N	0.397999	T	0.23649	0.0572	L	0.31294	0.92	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.16541	-1.0399	10	0.13470	T	0.59	-2.1917	7.2936	0.26380	0.0:0.4968:0.3083:0.1948	.	34	Q9BZV1	UBXN6_HUMAN	D	34	ENSP00000301281:E34D	ENSP00000301281:E34D	E	-	3	2	UBXN6	4405072	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	-1.062000	0.03468	-1.133000	0.02903	0.484000	0.47621	GAG	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458447.3		-	ENST00000301281.6	Missense_Mutation	SNP	19 : 4454072 - 4454072 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1000	31
SLCO5A1	81796	broad.mit.edu	37	8	70744640	70744640	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70744640G>A	ENST00000524945.1	-	1	985	c.269C>T	c.(268-270)gCg>gTg	p.A90V	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.A90V|SLCO5A1_ENST00000260126.4_Missense_Mutation_p.A90V|SLCO5A1_ENST00000528658.1_5'UTR	NM_001146008.1	NP_001139480.1	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	90						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCCGAGCCCCGCCGAAGTGGA	0.642		NA									OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	54	52			NA	NA	8		NA											NA				70744640		2203	4300	6503	SO:0001583	missense			AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571	81796	81796		Solute carriers	19046	protein-coding gene	gene with protein product		613543	solute carrier family 21 (organic anion transporter), member 15	SLC21A15	NA	12507753	Standard	NM_030958	NM_030958	NA	Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000524945.1:c.269C>T	8.37:g.70744640G>A	ENSP00000434422:p.Ala90Val	1124	B2RPF7	37	CCDS55243.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.244930	0.39697	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.44083	1.08;1.44;0.93	4.99	3.15	0.36227	.	1.275500	0.05249	N	0.513614	T	0.32556	0.0833	L	0.29908	0.895	0.30230	N	0.795995	B;B;B;B	0.17268	0.021;0.004;0.004;0.007	B;B;B;B	0.09377	0.002;0.002;0.002;0.004	T	0.24225	-1.0166	10	0.33940	T	0.23	.	7.8051	0.29198	0.1945:0.0:0.8055:0.0	.	90;90;90;90	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	V	90	ENSP00000260126:A90V;ENSP00000434422:A90V;ENSP00000431611:A90V	ENSP00000260126:A90V	A	-	2	0	SLCO5A1	70907194	0.705000	0.27846	0.984000	0.44739	0.814000	0.46013	1.023000	0.30065	1.328000	0.45358	0.555000	0.69702	GCG	SLCO5A1-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381991.1		-	ENST00000524945.1	Missense_Mutation	SNP	8 : 70744640 - 70744640 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	302	63
ZNF432	9668	broad.mit.edu	37	19	52550105	52550105	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52550105A>G	ENST00000594154.1	-	2	228		c.e2+1		ZNF432_ENST00000221315.5_Splice_Site|ZNF432_ENST00000597273.1_Splice_Site			O94892	ZN432_HUMAN	zinc finger protein 432	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		AGAAAAAGTCACCTGGGCATT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	78	81			NA	NA	19		NA											NA				52550105		2203	4300	6503	SO:0001630	splice_region_variant			AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087	9668	9668		Zinc fingers, C2H2-type, -	20810	protein-coding gene	gene with protein product					NA	9872452	Standard	NM_014650	NM_014650	NA	Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.15+1T>C	19.37:g.52550105A>G		NA		37	CCDS12848.1	.	.	.	.	.	.	.	.	.	.	A	11.36	1.614332	0.28712	.	.	ENSG00000256087	ENST00000221315	.	.	.	2.8	2.8	0.32819	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4475	0.27219	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF432	57241917	0.993000	0.37304	0.933000	0.37362	0.574000	0.36063	2.304000	0.43655	1.508000	0.48769	0.496000	0.49642	.	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462410.1	Intron	-	ENST00000594154.1	Splice_Site	SNP	19 : 52550105 - 52550105 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	245	44
TOR1AIP2	163590	broad.mit.edu	37	1	179820358	179820358	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179820358C>A	ENST00000367612.3	-	4	562	c.175G>T	c.(175-177)Gaa>Taa	p.E59*	TOR1AIP2_ENST00000609928.1_Nonsense_Mutation_p.E59*	NM_145034.4	NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	59						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						TCTGGACCTTCTGTCTCTACC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	154	156			NA	NA	1		NA											NA				179820358		2203	4300	6503	SO:0001587	stop_gained				CCDS1334.1	1q25.2	2012-02-09			ENSG00000169905	ENSG00000169905	163590	163590			24055	protein-coding gene	gene with protein product		614513			NA	15767459	Standard	NM_145034	NM_145034	NA	Approved	LULL1, NET9, IFRG15	uc001gnk.3	Q8NFQ8	OTTHUMG00000035265	ENST00000367612.3:c.175G>T	1.37:g.179820358C>A	ENSP00000356584:p.Glu59*	NA		37	CCDS1334.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978373	0.74360	.	.	ENSG00000169905	ENST00000367612	.	.	.	5.14	-8.88	0.00789	.	3.756630	0.00582	N	0.000320	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	6.5336	9.1746	0.37105	0.1111:0.5317:0.0:0.3572	.	.	.	.	X	59	.	ENSP00000356584:E59X	E	-	1	0	TOR1AIP2	178086981	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.196000	0.00276	-1.950000	0.01030	-1.423000	0.01107	GAA	TOR1AIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085304.1		-	ENST00000367612.3	Nonsense_Mutation	SNP	1 : 179820358 - 179820358 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	657	101
C14orf39	317761	broad.mit.edu	37	14	60921756	60921756	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60921756T>C	ENST00000321731.3	-	16	1625	c.1466A>G	c.(1465-1467)gAt>gGt	p.D489G		NM_174978.2	NP_777638	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	489										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TACAGAAGAATCAAATAAATT	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	51	50			NA	NA	14		NA											NA				60921756		2201	4284	6485	SO:0001583	missense			AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008	317761	317761			19849	protein-coding gene	gene with protein product					NA		Standard	NM_174978	NM_174978	NA	Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.1466A>G	14.37:g.60921756T>C	ENSP00000324920:p.Asp489Gly	NA		37	CCDS9746.1	.	.	.	.	.	.	.	.	.	.	T	12.65	2.002911	0.35320	.	.	ENSG00000179008	ENST00000321731	T	0.32023	1.47	5.84	5.84	0.93424	.	0.082515	0.52532	D	0.000080	T	0.53158	0.1779	M	0.67953	2.075	0.44345	D	0.997235	D	0.76494	0.999	D	0.74674	0.984	T	0.56195	-0.8019	10	0.87932	D	0	-20.2714	13.5881	0.61944	0.0:0.0:0.0:1.0	.	489	Q8N1H7	S6OS1_HUMAN	G	489	ENSP00000324920:D489G	ENSP00000324920:D489G	D	-	2	0	C14orf39	59991509	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.015000	0.49599	2.234000	0.73211	0.459000	0.35465	GAT	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276948.1		-	ENST00000321731.3	Missense_Mutation	SNP	14 : 60921756 - 60921756 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	247	42
ADAMTS3	9508	broad.mit.edu	37	4	73280626	73280626	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73280626C>T	ENST00000286657.4	-	4	603	c.567G>A	c.(565-567)caG>caA	p.Q189Q		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	189					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTTCCTCCATCTGTTTACCTC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(168;1941 2048 2918 13048 43078)							NA				0													168	163	164			NA	NA	4		NA											NA				73280626		2203	4300	6503	SO:0001819	synonymous_variant			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	9508	9508	3.4.24.-	ADAM metallopeptidases with thrombospondin type 1 motif	219	protein-coding gene	gene with protein product		605011	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3		NA	10094461	Standard		NM_014243	NA	Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.567G>A	4.37:g.73280626C>T		NA	A1L3U9|Q9BXZ8	37	CCDS3553.1																																																																																			ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252164.2		-	ENST00000286657.4	Silent	SNP	4 : 73280626 - 73280626 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	325	22
ZNF462	58499	broad.mit.edu	37	9	109689396	109689396	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109689396G>A	ENST00000277225.5	+	3	3492	c.3203G>A	c.(3202-3204)cGa>cAa	p.R1068Q	ZNF462_ENST00000457913.1_Missense_Mutation_p.R1068Q			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1068					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AAAACTATGCGAATGGTGTCT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	137	138			NA	NA	9		NA											NA				109689396		2203	4300	6503	SO:0001583	missense			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143	58499	58499		Zinc fingers, C2H2-type	21684	protein-coding gene	gene with protein product					NA		Standard	NM_021224	NM_021224	NA	Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.3203G>A	9.37:g.109689396G>A	ENSP00000277225:p.Arg1068Gln	NA	Q5T0T4|Q8N408	37	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070111	0.76301	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.07688	3.17;3.62	5.6	5.6	0.85130	.	0.057625	0.64402	D	0.000004	T	0.20861	0.0502	L	0.44542	1.39	0.80722	D	1	D;D	0.71674	0.998;0.996	P;P	0.59115	0.852;0.644	T	0.00083	-1.2101	10	0.66056	D	0.02	.	19.6224	0.95663	0.0:0.0:1.0:0.0	.	1068;1068	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	Q	1068	ENSP00000277225:R1068Q;ENSP00000414570:R1068Q	ENSP00000277225:R1068Q	R	+	2	0	ZNF462	108729217	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.526000	0.81920	2.630000	0.89119	0.655000	0.94253	CGA	ZNF462-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053532.2		+	ENST00000277225.5	Missense_Mutation	SNP	9 : 109689396 - 109689396 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	686	151
KIAA0232	9778	broad.mit.edu	37	4	6865260	6865260	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6865260G>A	ENST00000307659.5	+	7	3606	c.3151G>A	c.(3151-3153)Gtt>Att	p.V1051I	KIAA0232_ENST00000425103.1_Missense_Mutation_p.V1051I	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1051							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						ATTTTCACAAGTTCTTCATGT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	75	77			NA	NA	4		NA											NA				6865260		1855	4100	5955	SO:0001583	missense			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871	9778	9778			28992	protein-coding gene	gene with protein product					NA	9039502	Standard	NM_014743	NM_014743	NA	Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.3151G>A	4.37:g.6865260G>A	ENSP00000303928:p.Val1051Ile	NA	A7E2D2	37	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710692	0.68730	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.75072	0.3800	M	0.64997	1.995	0.58432	D	0.999997	D	0.60575	0.988	P	0.59487	0.858	T	0.77571	-0.2538	9	0.87932	D	0	-26.2537	18.8694	0.92306	0.0:0.0:1.0:0.0	.	1051	Q92628	K0232_HUMAN	I	1051	.	ENSP00000303928:V1051I	V	+	1	0	KIAA0232	6916161	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.158000	0.77470	2.765000	0.95021	0.655000	0.94253	GTT	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359102.2		+	ENST00000307659.5	Missense_Mutation	SNP	4 : 6865260 - 6865260 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	374	73
RHD	6007	broad.mit.edu	37	1	25599174	25599174	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25599174G>A	ENST00000328664.4	+	1	291	c.136G>A	c.(136-138)Gca>Aca	p.A46T	RHD_ENST00000342055.5_Missense_Mutation_p.A46T|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000423810.2_Missense_Mutation_p.A46T|RHD_ENST00000417538.2_Missense_Mutation_p.A46T|RHD_ENST00000454452.2_Missense_Mutation_p.A46T|RHD_ENST00000568195.1_Missense_Mutation_p.A46T|RHD_ENST00000357542.4_Missense_Mutation_p.A46T	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	46						integral to plasma membrane				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGGGCTCGTGGCATCCTATCA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	71	76			NA	NA	1		NA											NA				25599174		2200	4289	6489	SO:0001583	missense			AB012623	CCDS262.1, CCDS53285.1, CCDS60027.1, CCDS60028.1, CCDS60029.1, CCDS60030.1, CCDS60031.1	1p36.11	2014-07-19	2013-10-02		ENSG00000187010	ENSG00000187010	6007	6007		CD molecules, Blood group antigens	10009	protein-coding gene	gene with protein product		111680	Rhesus blood group, D antigen, Rh blood group, D antigen	RH	NA	8220426	Standard	NM_016124	NM_016124	NA	Approved	Rh30a, Rh4, RhPI, RhII, DIIIc, CD240D	uc001bjz.3	Q02161	OTTHUMG00000003476	ENST00000328664.4:c.136G>A	1.37:g.25599174G>A	ENSP00000331871:p.Ala46Thr	NA	Q02162|Q07618|Q16147|Q16235|Q16355|Q5VSK0|Q9NPK0|Q9UQ20|Q9UQ21|Q9UQ22|Q9UQ23	37	CCDS262.1	.	.	.	.	.	.	.	.	.	.	g	9.863	1.196861	0.22037	.	.	ENSG00000187010	ENST00000328664;ENST00000419831;ENST00000454452;ENST00000342055;ENST00000357542;ENST00000417538;ENST00000423810	T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91	3.5	0.39	0.16275	Ammonium transporter AmtB-like (3);	2.061140	0.01722	N	0.028330	T	0.37293	0.0998	L	0.41573	1.285	0.09310	N	1	B;P;D;P;P;B;P;P	0.69078	0.409;0.605;0.997;0.772;0.542;0.362;0.814;0.605	B;P;D;P;B;B;P;B	0.75020	0.348;0.464;0.985;0.484;0.281;0.249;0.602;0.388	T	0.43507	-0.9387	10	0.10902	T	0.67	0.5042	6.3361	0.21296	0.3865:0.0:0.6135:0.0	.	46;46;46;46;46;46;46;46	B4DLT8;Q5XLT1;Q5XLS9;Q5XLT2;Q5XLT3;E7EVW1;Q5XLT0;Q02161	.;.;.;.;.;.;.;RHD_HUMAN	T	46	ENSP00000331871:A46T;ENSP00000413849:A46T;ENSP00000339577:A46T;ENSP00000350150:A46T;ENSP00000396420:A46T;ENSP00000399640:A46T	ENSP00000331871:A46T	A	+	1	0	RHD	25471761	0.002000	0.14202	0.004000	0.12327	0.001000	0.01503	0.091000	0.15046	0.140000	0.18849	-0.347000	0.07816	GCA	RHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000009660.5		+	ENST00000328664.4	Missense_Mutation	SNP	1 : 25599174 - 25599174 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	467	105
EIF3C	8663	broad.mit.edu	37	16	28734529	28734529	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28734529G>A	ENST00000331666.6	+	9	1007	c.821G>A	c.(820-822)cGg>cAg	p.R274Q	EIF3C_ENST00000566866.1_Missense_Mutation_p.R274Q|EIF3C_ENST00000395587.1_Missense_Mutation_p.R274Q|EIF3C_ENST00000566501.1_Missense_Mutation_p.R274Q|EIF3C_ENST00000564243.1_Missense_Mutation_p.R264Q|EIF3C_ENST00000565099.1_3'UTR			Q99613	EIF3C_HUMAN	eukaryotic translation initiation factor 3, subunit C	274						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(5)|skin(1)	6						GAGAAGAAACGGGAGGACAAA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	175	168			NA	NA	16		NA											NA				28734529		2197	4297	6494	SO:0001583	missense			U46025	CCDS10638.1, CCDS66993.1	16p11.2	2008-02-05	2007-07-27	2007-07-27		ENSG00000184110	8663	8663			3279	protein-coding gene	gene with protein product		603916	eukaryotic translation initiation factor 3, subunit 8, 110kDa	EIF3S8	NA	8995409	Standard	NM_003752	NM_001199142	NA	Approved	eIF3-p110, eIF3c	uc002dph.4	Q99613		ENST00000331666.6:c.821G>A	16.37:g.28734529G>A	ENSP00000332604:p.Arg274Gln	NA	A8K7Z0|B2RXG3|O00215|Q9BW98	37	CCDS10638.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.756344	0.49362	.	.	ENSG00000184110	ENST00000395587;ENST00000331666;ENST00000537985	.	.	.	4.09	4.09	0.47781	Eukaryotic translation initiation factor 3 subunit 8, N-terminal (1);	0.547855	0.18524	N	0.138683	T	0.34861	0.0912	N	0.16903	0.455	0.37154	D	0.90227	P;P;P	0.51933	0.949;0.909;0.949	P;B;P	0.45660	0.489;0.113;0.489	T	0.21143	-1.0254	9	0.20519	T	0.43	.	13.7462	0.62876	0.0:0.0:1.0:0.0	.	264;60;274	B4E1D5;B3KNZ4;Q99613	.;.;EIF3C_HUMAN	Q	274;274;259	.	ENSP00000332604:R274Q	R	+	2	0	EIF3C	28642030	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	3.273000	0.51623	2.286000	0.76751	0.442000	0.29010	CGG	EIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216908.3		+	ENST00000331666.6	Missense_Mutation	SNP	16 : 28734529 - 28734529 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1151	56
CNOT3	4849	broad.mit.edu	37	19	54656031	54656031	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54656031C>T	ENST00000406403.1	+	13	3277	c.1674C>T	c.(1672-1674)gaC>gaT	p.D558D	CNOT3_ENST00000358389.3_Silent_p.D377D|CNOT3_ENST00000221232.5_Silent_p.D558D|CNOT3_ENST00000496327.1_3'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	558	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCATTGAGGACCCTGTGCCAA	0.652		NA											C	3	0.0014	NA	NA	2184	0.01	1	,	,	NA	3e-04	NA	NA	NA	0.0014	1	EXOME	NA	NA	6e-04	SNP								NA				0													65	62	63			NA	NA	19		NA											NA				54656031		2203	4300	6503	SO:0001819	synonymous_variant			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038	4849	4849			7879	protein-coding gene	gene with protein product	NOT3 (negative regulator of transcription 3, yeast) homolog	604910		NOT3	NA	10637334, 9734811	Standard	NM_014516	NM_014516	NA	Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.1674C>T	19.37:g.54656031C>T		NA	Q9NZN7|Q9UF76	37	CCDS12880.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	10.13	1.265663	0.23136	.	.	ENSG00000088038	ENST00000457463	.	.	.	4.59	-0.545	0.11843	.	.	.	.	.	T	0.47358	0.1441	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47522	-0.9111	4	.	.	.	-37.2479	9.3688	0.38241	0.0:0.6044:0.0:0.3956	.	.	.	.	S	90	.	.	P	+	1	0	CNOT3	59347843	0.997000	0.39634	0.998000	0.56505	0.974000	0.67602	0.422000	0.21296	0.143000	0.18926	-0.137000	0.14449	CCC	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000142130.3		+	ENST00000406403.1	Silent	SNP	19 : 54656031 - 54656031 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	525	87
EEFSEC	60678	broad.mit.edu	37	3	127965783	127965783	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127965783C>A	ENST00000254730.6	+	2	475	c.421C>A	c.(421-423)Ctg>Atg	p.L141M	EEFSEC_ENST00000483457.1_Missense_Mutation_p.L141M	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	141						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CTGCCAGAAGCTGGTCGTGGT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													184	185	185			NA	NA	3		NA											NA				127965783		2203	4300	6503	SO:0001583	missense				CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394	60678	60678			24614	protein-coding gene	gene with protein product	elongation factor for selenoprotein translation	607695			NA	10970870, 15229221	Standard	NM_021937	XM_005247696	NA	Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.421C>A	3.37:g.127965783C>A	ENSP00000254730:p.Leu141Met	NA		37	CCDS33849.1	.	.	.	.	.	.	.	.	.	.	C	9.424	1.083757	0.20309	.	.	ENSG00000132394	ENST00000254730;ENST00000483457	T;T	0.71817	-0.6;-0.6	4.95	3.0	0.34707	Protein synthesis factor, GTP-binding (2);	0.047246	0.85682	D	0.000000	T	0.43743	0.1261	N	0.10707	0.03	0.43036	D	0.994618	B;B	0.33171	0.4;0.05	B;B	0.34779	0.189;0.136	T	0.24333	-1.0163	10	0.10377	T	0.69	-7.6761	6.5504	0.22431	0.3495:0.5574:0.0:0.0931	.	141;141	C9J8T0;P57772	.;SELB_HUMAN	M	141	ENSP00000254730:L141M;ENSP00000417660:L141M	ENSP00000254730:L141M	L	+	1	2	EEFSEC	129448473	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	3.824000	0.55723	1.053000	0.40415	0.313000	0.20887	CTG	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356738.2		+	ENST00000254730.6	Missense_Mutation	SNP	3 : 127965783 - 127965783 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1297	233
COL8A1	1295	broad.mit.edu	37	3	99514881	99514881	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:99514881C>T	ENST00000261037.3	+	5	2516	c.2136C>T	c.(2134-2136)gaC>gaT	p.D712D	COL8A1_ENST00000273342.4_Silent_p.D712D	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	712	C1q.|Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGCCCGGAGACCGGGTGTTCC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	39	39			NA	NA	3		NA											NA				99514881		2203	4300	6503	SO:0001819	synonymous_variant			AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810	1295	1295		Collagens	2215	protein-coding gene	gene with protein product		120251	chromosome 3 open reading frame 7	C3orf7	NA	2029894	Standard	NM_001850	NM_001850	NA	Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.2136C>T	3.37:g.99514881C>T		NA	D3DN42|Q53XI6|Q96D07	37	CCDS2934.1																																																																																			COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000309001.1		+	ENST00000261037.3	Silent	SNP	3 : 99514881 - 99514881 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	55
HOXC13	3229	broad.mit.edu	37	12	54333171	54333171	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54333171C>T	ENST00000243056.3	+	1	637	c.481C>T	c.(481-483)Ccc>Tcc	p.P161S	HOXC-AS5_ENST00000512916.2_RNA	NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	161						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|skin(1)	3						GGGCGCCCTGCCCGGTGACGA	0.657		NA	T	NUP98	AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		12	12q13.3	3229	homeo box C13		L	0													17	18	18			NA	NA	12		NA											NA				54333171		2200	4293	6493	SO:0001583	missense				CCDS8865.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123364	ENSG00000123364	3229	3229		Homeoboxes / ANTP class : HOXL subclass	5125	protein-coding gene	gene with protein product		142976	homeo box C13	HOX3, HOX3G	NA	1973146, 1358459	Standard		NM_017410	NA	Approved		uc001sei.3	P31276	OTTHUMG00000160008	ENST00000243056.3:c.481C>T	12.37:g.54333171C>T	ENSP00000243056:p.Pro161Ser	NA	Q5BL02|Q96J32|Q9NR24|Q9NYD5	37	CCDS8865.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524974	0.27299	.	.	ENSG00000123364	ENST00000243056	T	0.35605	1.3	2.69	2.69	0.31865	.	0.068700	0.64402	D	0.000013	T	0.23410	0.0566	N	0.20610	0.595	0.51012	D	0.999909	B	0.17465	0.022	B	0.20184	0.028	T	0.07028	-1.0794	10	0.27785	T	0.31	.	13.2295	0.59933	0.0:1.0:0.0:0.0	.	161	P31276	HXC13_HUMAN	S	161	ENSP00000243056:P161S	ENSP00000243056:P161S	P	+	1	0	HOXC13	52619438	0.979000	0.34478	0.998000	0.56505	0.857000	0.48899	2.205000	0.42770	1.849000	0.53698	0.313000	0.20887	CCC	HOXC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358865.2		+	ENST00000243056.3	Missense_Mutation	SNP	12 : 54333171 - 54333171 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	128	26
ALDH1L1	10840	broad.mit.edu	37	3	125824589	125824589	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125824589G>T	ENST00000273450.3	-	22	2880	c.2663C>A	c.(2662-2664)tCt>tAt	p.S888Y	ALDH1L1_ENST00000452905.2_Missense_Mutation_p.S777Y|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.S878Y|ALDH1L1_ENST00000393434.2_Missense_Mutation_p.S878Y|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1-AS1_ENST00000512384.1_RNA	NM_001270364.1	NP_001257293.1	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	878	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GCCAAATCCAGACTGTTTGAA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	167	169			NA	NA	3		NA											NA				125824589		2203	4300	6503	SO:0001583	missense			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	10840	10840	1.5.1.6	Aldehyde dehydrogenases	3978	protein-coding gene	gene with protein product	cytosolic 10-formyltetrahydrofolate dehydrogenase	600249	formyltetrahydrofolate dehydrogenase	FTHFD	NA		Standard	NM_012190	NM_012190	NA	Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000273450.3:c.2663C>A	3.37:g.125824589G>T	ENSP00000273450:p.Ser888Tyr	NA	Q68CS1	37	CCDS58851.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443470	0.83993	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94	4.53	4.53	0.55603	Aldehyde dehydrogenase domain (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.98157	0.9391	H	0.99937	4.99	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98922	1.0784	10	0.87932	D	0	.	14.7775	0.69740	0.0:0.0:1.0:0.0	.	777;413;878	E9PBX3;Q6ZV71;O75891	.;.;AL1L1_HUMAN	Y	888;878;777;878	ENSP00000273450:S888Y;ENSP00000420293:S878Y;ENSP00000395881:S777Y;ENSP00000377083:S878Y	ENSP00000273450:S888Y	S	-	2	0	ALDH1L1	127307279	1.000000	0.71417	0.981000	0.43875	0.978000	0.69477	9.304000	0.96190	2.329000	0.79093	0.591000	0.81541	TCT	ALDH1L1-001	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000246897.1		-	ENST00000273450.3	Missense_Mutation	SNP	3 : 125824589 - 125824589 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	604	111
CELSR2	1952	broad.mit.edu	37	1	109815515	109815515	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109815515C>T	ENST00000271332.3	+	31	8265	c.8204C>T	c.(8203-8205)gCc>gTc	p.A2735V	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2735					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGCTCCTATGCCTCTACCCAC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(158;1285 2011 34800 34852 42084)							NA				0													54	59	58			NA	NA	1		NA											NA				109815515		2203	4300	6503	SO:0001583	missense			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126	1952	1952		Cadherins / Major cadherins, -, GPCR / Class B : Orphans	3231	protein-coding gene	gene with protein product		604265	cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog	EGFL2	NA	9693030, 10907856	Standard	NM_001408	NM_001408	NA	Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.8204C>T	1.37:g.109815515C>T	ENSP00000271332:p.Ala2735Val	NA	Q5T2Y7|Q92566	37	CCDS796.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577470	0.86645	.	.	ENSG00000143126	ENST00000271332	T	0.75154	-0.91	4.7	4.7	0.59300	.	.	.	.	.	T	0.77579	0.4151	M	0.67397	2.05	0.50632	D	0.999886	D	0.67145	0.996	P	0.57679	0.825	T	0.80723	-0.1255	9	0.72032	D	0.01	.	14.261	0.66085	0.0:0.8499:0.1501:0.0	.	2735	Q9HCU4	CELR2_HUMAN	V	2735	ENSP00000271332:A2735V	ENSP00000271332:A2735V	A	+	2	0	CELSR2	109617038	0.997000	0.39634	1.000000	0.80357	0.984000	0.73092	2.664000	0.46783	2.443000	0.82685	0.561000	0.74099	GCC	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033200.1		+	ENST00000271332.3	Missense_Mutation	SNP	1 : 109815515 - 109815515 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	375	44
APOBEC3G	60489	broad.mit.edu	37	22	39482486	39482486	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39482486G>A	ENST00000407997.3	+	6	1295	c.938G>A	c.(937-939)cGc>cAc	p.R313H	APOBEC3G_ENST00000452957.2_Missense_Mutation_p.R313H	NM_021822.3	NP_068594.1			apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	NA										central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					TTCACTGCCCGCATCTATGAT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	119	117			NA	NA	22		NA											NA				39482486		2203	4300	6503	SO:0001583	missense			AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713	60489	60489		Apolipoprotein B mRNA editing enzymes	17357	protein-coding gene	gene with protein product		607113			NA	11863358	Standard	NM_021822	NM_021822	NA	Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.938G>A	22.37:g.39482486G>A	ENSP00000385057:p.Arg313His	NA		37	CCDS13984.1	.	.	.	.	.	.	.	.	.	.	.	13.11	2.138435	0.37728	.	.	ENSG00000239713	ENST00000452957;ENST00000407997	T;T	0.66815	-0.23;-0.23	1.56	1.56	0.23342	APOBEC-like, N-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.68577	0.3016	M	0.88906	2.99	0.25718	N	0.985403	B	0.28584	0.216	B	0.25884	0.064	T	0.65685	-0.6108	9	0.72032	D	0.01	.	9.0538	0.36392	0.0:0.0:1.0:0.0	.	313	Q9HC16	ABC3G_HUMAN	H	313	ENSP00000413376:R313H;ENSP00000385057:R313H	ENSP00000385057:R313H	R	+	2	0	APOBEC3G	37812432	1.000000	0.71417	0.743000	0.31040	0.066000	0.16364	5.716000	0.68437	1.168000	0.42723	0.484000	0.47621	CGC	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321219.1		+	ENST00000407997.3	Missense_Mutation	SNP	22 : 39482486 - 39482486 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1002	165
NRP2	8828	broad.mit.edu	37	2	206592644	206592644	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206592644G>A	ENST00000360409.3	+	7	1811	c.1020G>A	c.(1018-1020)acG>acA	p.T340T	NRP2_ENST00000412873.2_Silent_p.T340T|NRP2_ENST00000355117.4_Silent_p.T340T|NRP2_ENST00000417189.1_Silent_p.T340T|NRP2_ENST00000272849.3_Silent_p.T340T|NRP2_ENST00000357785.5_Silent_p.T340T|NRP2_ENST00000357118.4_Silent_p.T340T|NRP2_ENST00000540178.1_Silent_p.T340T|NRP2_ENST00000540841.1_Silent_p.T340T	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	340	F5/8 type C 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	p.T340T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CCATGCTCACGGCCATCGCAA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	ovary(1)											95	79	84			NA	NA	2		NA											NA				206592644		2203	4300	6503	SO:0001819	synonymous_variant			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257	8828	8828			8005	protein-coding gene	gene with protein product		602070			NA	9529250, 9331348	Standard		NM_003872	NA	Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000360409.3:c.1020G>A	2.37:g.206592644G>A		NA	O14820|O14821|Q53TQ4|Q53TS3|Q9H2D4|Q9H2D5|Q9H2E3|Q9H2E4	37	CCDS2364.1																																																																																			NRP2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256392.1		+	ENST00000360409.3	Silent	SNP	2 : 206592644 - 206592644 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	171	38
LRRC59	55379	broad.mit.edu	37	17	48474609	48474609	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48474609G>T	ENST00000225972.7	-	1	305	c.70C>A	c.(70-72)Ctc>Atc	p.L24I	RP1-117B12.4_ENST00000511627.1_RNA|LRRC59_ENST00000576448.1_Missense_Mutation_p.L24I	NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	24						endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			AGGTCGCTGAGGCTCAGGTCC	0.697		NA									OREG0024565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	74	77			NA	NA	17		NA											NA				48474609		2203	4300	6503	SO:0001583	missense			AK025328	CCDS11566.1	17q21.33	2014-02-12	2006-01-12		ENSG00000108829	ENSG00000108829	55379	55379			28817	protein-coding gene	gene with protein product		614854			NA	12477932	Standard	NM_018509	NM_018509	NA	Approved	PRO1855, FLJ21675	uc002iqt.3	Q96AG4	OTTHUMG00000162079	ENST00000225972.7:c.70C>A	17.37:g.48474609G>T	ENSP00000225972:p.Leu24Ile	954	D3DTX8|Q9P189	37	CCDS11566.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769440	0.90020	.	.	ENSG00000108829	ENST00000225972	T	0.02421	4.3	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.05914	0.0154	N	0.15975	0.35	0.58432	D	0.999996	D	0.67145	0.996	D	0.70016	0.967	T	0.61471	-0.7056	10	0.23302	T	0.38	.	14.2164	0.65795	0.0715:0.0:0.9285:0.0	.	24	Q96AG4	LRC59_HUMAN	I	24	ENSP00000225972:L24I	ENSP00000225972:L24I	L	-	1	0	LRRC59	45829608	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.457000	0.73505	2.808000	0.96608	0.655000	0.94253	CTC	LRRC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367117.2		-	ENST00000225972.7	Missense_Mutation	SNP	17 : 48474609 - 48474609 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	581	98
RP11-321M21.3	0	broad.mit.edu	37	18	73122827	73122827	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:73122827C>T	ENST00000578340.1	+	2	250				RP11-321M21.3_ENST00000579386.1_Intron|SMIM21_ENST00000579022.1_Missense_Mutation_p.A100T|SMIM21_ENST00000382638.3_Missense_Mutation_p.S56N						NA											NA						ATTTATTCTGCTTCTGCTGTG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	138	138			NA	NA	18		NA											NA				73122827		2203	4300	6503	SO:0001627	intron_variant											NA	NA			NA							NA					NA						ENST00000578340.1:c.77+2799C>T	18.37:g.73122827C>T		NA		37		.	.	.	.	.	.	.	.	.	.	C	4.611	0.113502	0.08831	.	.	ENSG00000206026	ENST00000382638	.	.	.	3.88	-2.39	0.06602	.	.	.	.	.	T	0.14614	0.0353	N	0.08118	0	0.19575	N	0.999961	B	0.02656	0.0	B	0.04013	0.001	T	0.20706	-1.0267	8	0.87932	D	0	.	0.8302	0.01129	0.2683:0.3119:0.1084:0.3114	.	100	Q3B7S5	CR062_HUMAN	T	100	.	ENSP00000372083:A100T	A	-	1	0	C18orf62	71251815	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.158000	0.10070	-0.447000	0.07138	0.460000	0.39030	GCA	RP11-321M21.3-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000444915.1		+	ENST00000578340.1	Intron	SNP	18 : 73122827 - 73122827 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	72
SSTR5	6755	broad.mit.edu	37	16	1129709	1129709	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1129709G>A	ENST00000293897.4	+	1	929	c.841G>A	c.(841-843)Gcc>Acc	p.A281T	SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Missense_Mutation_p.A281T	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	281					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	CCAGGAGCCCGCCTCCGCCGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	93	91			NA	NA	16		NA											NA				1129709		2194	4297	6491	SO:0001583	missense			D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009	NA	6755		GPCR / Class A : Somatostatin receptors	11334	protein-coding gene	gene with protein product		182455			NA	7607700	Standard		NM_001053	NA	Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.841G>A	16.37:g.1129709G>A	ENSP00000293897:p.Ala281Thr	NA	P34988|Q9UJI5	37	CCDS10429.1	.	.	.	.	.	.	.	.	.	.	G	2.505	-0.314254	0.05422	.	.	ENSG00000162009	ENST00000397547;ENST00000293897	T;T	0.71461	-0.57;-0.57	4.76	1.62	0.23740	GPCR, rhodopsin-like superfamily (1);	0.594342	0.17596	N	0.168594	T	0.47820	0.1466	N	0.16602	0.42	0.18873	N	0.999989	B	0.18166	0.026	B	0.21917	0.037	T	0.24440	-1.0160	10	0.18710	T	0.47	.	5.5565	0.17119	0.1766:0.0:0.6637:0.1597	.	281	P35346	SSR5_HUMAN	T	281	ENSP00000380680:A281T;ENSP00000293897:A281T	ENSP00000293897:A281T	A	+	1	0	SSTR5	1069710	0.248000	0.23930	0.861000	0.33841	0.064000	0.16182	3.106000	0.50322	0.401000	0.25424	-0.314000	0.08810	GCC	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000420836.1		+	ENST00000293897.4	Missense_Mutation	SNP	16 : 1129709 - 1129709 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	500	101
BANF1	8815	broad.mit.edu	37	11	65770776	65770776	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65770776C>A	ENST00000312175.2	+	2	563	c.55C>A	c.(55-57)Cca>Aca	p.P19T	BANF1_ENST00000533166.1_Missense_Mutation_p.P19T|BANF1_ENST00000527348.1_Missense_Mutation_p.P19T|BANF1_ENST00000524628.1_Intron|BANF1_ENST00000445560.2_Missense_Mutation_p.P19T	NM_001143985.1|NM_003860.3	NP_001137457.1|NP_003851.1	O75531	BAF_HUMAN	barrier to autointegration factor 1	19					initiation of viral infection|interspecies interaction between organisms|provirus integration|response to virus	chromosome|cytosol|nucleoplasm	DNA binding			large_intestine(2)|prostate(1)	3						GGGGGAGAAGCCAGTGGGGAG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	46	45			NA	NA	11		NA											NA				65770776		2201	4293	6494	SO:0001583	missense			AF068235	CCDS8125.1	11q13.1	2012-04-19			ENSG00000175334	ENSG00000175334	8815	8815			17397	protein-coding gene	gene with protein product		603811			NA	9465049	Standard	NM_003860	NM_003860	NA	Approved	BAF	uc001ogp.3	O75531	OTTHUMG00000166749	ENST00000312175.2:c.55C>A	11.37:g.65770776C>A	ENSP00000310275:p.Pro19Thr	NA	O60558|Q6FGG7	37	CCDS8125.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074526	0.76415	.	.	ENSG00000175334	ENST00000312175;ENST00000445560;ENST00000530204;ENST00000533166;ENST00000527348	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	4.57	4.57	0.56435	.	0.115747	0.64402	D	0.000013	T	0.55986	0.1955	.	.	.	0.53688	D	0.999979	P	0.35174	0.488	P	0.46850	0.529	T	0.51164	-0.8740	9	0.25106	T	0.35	-0.3442	14.8945	0.70633	0.0:1.0:0.0:0.0	.	19	O75531	BAF_HUMAN	T	19	ENSP00000310275:P19T;ENSP00000416128:P19T;ENSP00000431785:P19T;ENSP00000433760:P19T;ENSP00000432867:P19T	ENSP00000310275:P19T	P	+	1	0	BANF1	65527352	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.197000	0.51028	2.381000	0.81170	0.650000	0.86243	CCA	BANF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391340.1		+	ENST00000312175.2	Missense_Mutation	SNP	11 : 65770776 - 65770776 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	224	44
PLXDC2	84898	broad.mit.edu	37	10	20432253	20432253	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:20432253C>T	ENST00000377252.4	+	5	1412	c.571C>T	c.(571-573)Cga>Tga	p.R191*	PLXDC2_ENST00000377242.3_Nonsense_Mutation_p.R142*|PLXDC2_ENST00000377238.2_3'UTR	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	NA						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						AGTCGTACATCGAATGCTAAC	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	156	148	151		571	4.9	1	10		151	0,8600		0,0,4300	no	stop-gained	PLXDC2	NM_032812.7		0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077		191/530	20432253	1,13005	2203	4300	6503	SO:0001587	stop_gained			AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594	84898	84898			21013	protein-coding gene	gene with protein product	tumor endothelial marker 7-related precursor	606827			NA	11559528	Standard	NM_032812	NM_001282736	NA	Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.571C>T	10.37:g.20432253C>T	ENSP00000366460:p.Arg191*	NA	Q96E59|Q96PD9|Q96SU9	37	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	C	46	12.108986	0.99637	2.27E-4	0.0	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000377238;ENST00000536022	.	.	.	5.82	4.9	0.64082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1463	0.81575	0.1346:0.8654:0.0:0.0	.	.	.	.	X	191;142;54;177	.	ENSP00000366446:R54X	R	+	1	2	PLXDC2	20472259	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.678000	0.61641	1.425000	0.47237	0.563000	0.77884	CGA	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047101.2		+	ENST00000377252.4	Nonsense_Mutation	SNP	10 : 20432253 - 20432253 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	614	98
SIGLEC12	89858	broad.mit.edu	37	19	52004877	52004877	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52004877G>A	ENST00000291707.3	-	1	166	c.111C>T	c.(109-111)ggC>ggT	p.G37G		NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	37	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AGACACACAGGCCCTCCTGCA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	82	92			NA	NA	19		NA											NA				52004877		2203	4300	6503	SO:0001819	synonymous_variant			AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521	89858	89858		Sialic acid binding Ig-like lectins, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	15482	protein-coding gene	gene with protein product		606094	SIGLEC-like 1, sialic acid binding Ig-like lectin 12	SIGLECL1	NA	11409877, 11328818, 21555517	Standard	NM_053003	NM_053003	NA	Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.111C>T	19.37:g.52004877G>A		NA	Q8IYH7	37	CCDS12833.1																																																																																			SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384641.2		-	ENST00000291707.3	Silent	SNP	19 : 52004877 - 52004877 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	357	57
C1orf74	148304	broad.mit.edu	37	1	209956186	209956186	+	Missense_Mutation	SNP	G	G	A	rs150951869		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209956186G>A	ENST00000294811.1	-	2	1050	c.794C>T	c.(793-795)cCg>cTg	p.P265L		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	265										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		GGCCACAGCCGGCAGTGTGAC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	LEU/PRO	0,4406		0,0,2203	106	113	110		794	3.7	0	1	dbSNP_134	110	1,8599	1.2+/-3.3	0,1,4299	no	missense	C1orf74	NM_152485.2	98	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	265/270	209956186	1,13005	2203	4300	6503	SO:0001583	missense			AK057807	CCDS1491.1	1q32.2	2008-02-05			ENSG00000162757	ENSG00000162757	148304	148304			26319	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152485	NM_152485	NA	Approved	FLJ25078	uc001hhp.1	Q96LT6	OTTHUMG00000036483	ENST00000294811.1:c.794C>T	1.37:g.209956186G>A	ENSP00000294811:p.Pro265Leu	NA		37	CCDS1491.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930427	0.52866	0.0	1.16E-4	ENSG00000162757	ENST00000294811	T	0.47528	0.84	5.75	3.65	0.41850	.	0.196250	0.45126	N	0.000382	T	0.44052	0.1275	M	0.65498	2.005	0.80722	D	1	P	0.35192	0.489	B	0.31946	0.138	T	0.42085	-0.9472	10	0.72032	D	0.01	-10.2285	10.4299	0.44400	0.0741:0.0:0.7951:0.1308	.	265	Q96LT6	CA074_HUMAN	L	265	ENSP00000294811:P265L	ENSP00000294811:P265L	P	-	2	0	C1orf74	208022809	1.000000	0.71417	0.014000	0.15608	0.987000	0.75469	5.814000	0.69208	0.618000	0.30179	0.655000	0.94253	CCG	C1orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088745.1		-	ENST00000294811.1	Missense_Mutation	SNP	1 : 209956186 - 209956186 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	794	141
SLIT2	9353	broad.mit.edu	37	4	20599956	20599956	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20599956C>A	ENST00000504154.1	+	33	3882	c.3630C>A	c.(3628-3630)ctC>ctA	p.L1210L	SLIT2_ENST00000503823.1_Silent_p.L1202L|SLIT2_ENST00000273739.5_Silent_p.L1223L|SLIT2_ENST00000503837.1_Silent_p.L1206L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1210	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CGGTAGAACTCTATCGGGGGC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	147	152			NA	NA	4		NA											NA				20599956		2203	4300	6503	SO:0001819	synonymous_variant			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147	9353	9353			11086	protein-coding gene	gene with protein product		603746	slit (Drosophila) homolog 2	SLIL3	NA	9813312, 18269211	Standard		XM_005248211	NA	Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3630C>A	4.37:g.20599956C>A		NA	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	37	CCDS3426.1																																																																																			SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250396.2		+	ENST00000504154.1	Silent	SNP	4 : 20599956 - 20599956 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	679	136
NCAPG	64151	broad.mit.edu	37	4	17844978	17844978	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:17844978G>A	ENST00000251496.2	+	21	3154	c.2978G>A	c.(2977-2979)cGa>cAa	p.R993Q	LCORL_ENST00000326877.4_3'UTR	NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	993					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		CTACCAAGACGAGCCAAAACC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	106	104			NA	NA	4		NA											NA				17844978		2203	4299	6502	SO:0001583	missense			AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805	64151	64151			24304	protein-coding gene	gene with protein product	chromosome condensation protein G	606280			NA	10910072, 11136719	Standard	NM_022346	NM_022346	NA	Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.2978G>A	4.37:g.17844978G>A	ENSP00000251496:p.Arg993Gln	NA	Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	37	CCDS3424.1	.	.	.	.	.	.	.	.	.	.	G	36	5.661373	0.96734	.	.	ENSG00000109805	ENST00000251496	T	0.38560	1.13	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.67192	0.2867	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.66073	-0.6014	10	0.72032	D	0.01	-10.9118	20.8794	0.99867	0.0:0.0:1.0:0.0	.	993	Q9BPX3	CND3_HUMAN	Q	993	ENSP00000251496:R993Q	ENSP00000251496:R993Q	R	+	2	0	NCAPG	17454076	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.155000	0.77445	2.941000	0.99782	0.655000	0.94253	CGA	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250375.1		+	ENST00000251496.2	Missense_Mutation	SNP	4 : 17844978 - 17844978 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	560	106
GNA15	2769	broad.mit.edu	37	19	3151773	3151773	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3151773G>T	ENST00000262958.3	+	4	812	c.554G>T	c.(553-555)aGc>aTc	p.S185I	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	185					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		GTGCTCCGCAGCCGCATGCCC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	101	107			NA	NA	19		NA											NA				3151773		2203	4300	6503	SO:0001583	missense				CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558	2769	2769			4383	protein-coding gene	gene with protein product		139314			NA	1302014	Standard	NM_002068	NM_002068	NA	Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.554G>T	19.37:g.3151773G>T	ENSP00000262958:p.Ser185Ile	NA	O75247|Q53XK2	37	CCDS12104.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.060650	0.36373	.	.	ENSG00000060558	ENST00000262958	D	0.88975	-2.45	4.59	3.53	0.40419	G protein alpha subunit, helical insertion (1);	0.130161	0.51477	U	0.000099	T	0.80999	0.4732	N	0.21508	0.67	0.34022	D	0.652732	B	0.11235	0.004	B	0.18263	0.021	T	0.80504	-0.1353	10	0.87932	D	0	.	9.8799	0.41227	0.0:0.0:0.6289:0.3711	.	185	P30679	GNA15_HUMAN	I	185	ENSP00000262958:S185I	ENSP00000262958:S185I	S	+	2	0	GNA15	3102773	0.025000	0.19082	0.962000	0.40283	0.800000	0.45204	1.389000	0.34453	0.895000	0.36342	0.546000	0.68486	AGC	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452320.2		+	ENST00000262958.3	Missense_Mutation	SNP	19 : 3151773 - 3151773 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	816	157
PTGDS	5730	broad.mit.edu	37	9	139873509	139873509	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139873509C>T	ENST00000371625.3	+	2	253	c.179C>T	c.(178-180)gCg>gTg	p.A60V	PTGDS_ENST00000460340.1_3'UTR|PTGDS_ENST00000224167.2_Missense_Mutation_p.A60V	NM_000954.5	NP_000945.3	P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	60					prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GAGAAGAAGGCGGCGTTGTCC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	58	58			NA	NA	9		NA											NA				139873509		2203	4300	6503	SO:0001583	missense			AA621632	CCDS7019.1	9q34.2-q34.3	2011-11-15	2002-08-29		ENSG00000107317	ENSG00000107317	5730	5730	5.3.99.2	Lipocalins	9592	protein-coding gene	gene with protein product	lipocalin-type prostaglandin D synthase	176803	prostaglandin D2 synthase (21kD, brain)		NA	1902577	Standard	NM_000954	NM_000954	NA	Approved	PGDS, L-PGDS	uc004cke.3	P41222	OTTHUMG00000020957	ENST00000371625.3:c.179C>T	9.37:g.139873509C>T	ENSP00000360687:p.Ala60Val	NA	B2R727|Q5SQ10|Q7M4P3|Q9UC22|Q9UCC9|Q9UCD9	37	CCDS7019.1	.	.	.	.	.	.	.	.	.	.	c	15.83	2.948219	0.53186	.	.	ENSG00000107317	ENST00000224167;ENST00000457950;ENST00000371625;ENST00000371623	T;T;T;T	0.09163	3.01;3.01;3.01;3.01	4.38	-0.632	0.11523	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	1.177410	0.06362	N	0.711815	T	0.08313	0.0207	L	0.53249	1.67	0.09310	N	1	P	0.42692	0.787	B	0.20955	0.032	T	0.40553	-0.9557	10	0.33940	T	0.23	-14.0698	9.1141	0.36746	0.5396:0.3473:0.113:0.0	.	60	P41222	PTGDS_HUMAN	V	60	ENSP00000224167:A60V;ENSP00000392633:A60V;ENSP00000360687:A60V;ENSP00000360685:A60V	ENSP00000224167:A60V	A	+	2	0	PTGDS	138993330	0.000000	0.05858	0.015000	0.15790	0.680000	0.39746	-0.207000	0.09384	-0.111000	0.12001	0.436000	0.28706	GCG	PTGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055188.1		+	ENST00000371625.3	Missense_Mutation	SNP	9 : 139873509 - 139873509 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	367	65
HEXDC	284004	broad.mit.edu	37	17	80400400	80400400	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80400400C>T	ENST00000337014.6	+	12	2164	c.1690C>T	c.(1690-1692)Cct>Tct	p.P564S	HEXDC_ENST00000327949.9_3'UTR|HEXDC_ENST00000577944.1_Silent_p.A536A	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	478					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TCCTGAGGGCCCTGGGCAGCC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	73	71			NA	NA	17		NA											NA				80400400		1936	4141	6077	SO:0001583	missense			AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660	284004	284004			26307	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_173620	NM_173620	NA	Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000337014.6:c.1690C>T	17.37:g.80400400C>T	ENSP00000337854:p.Pro564Ser	NA	B7UUP6|Q8IYN4|Q8TE81	37	CCDS42402.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.710804	0.48517	.	.	ENSG00000169660	ENST00000337014	T	0.41400	1.0	3.34	-2.43	0.06522	.	1102.450000	0.00166	N	0.000000	T	0.29524	0.0736	.	.	.	0.09310	N	1	B	0.25169	0.119	B	0.19391	0.025	T	0.23904	-1.0175	9	0.87932	D	0	-0.0924	3.4568	0.07518	0.182:0.3669:0.0:0.4511	.	564	Q8WVB3-2	.	S	564	ENSP00000337854:P564S	ENSP00000337854:P564S	P	+	1	0	HEXDC	77993689	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	0.041000	0.13927	-0.467000	0.06932	-0.258000	0.10820	CCT	HEXDC-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443507.1		+	ENST00000337014.6	Missense_Mutation	SNP	17 : 80400400 - 80400400 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	830	122
ZBTB22	9278	broad.mit.edu	37	6	33284660	33284660	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33284660C>A	ENST00000431845.2	-	2	185	c.34G>T	c.(34-36)Gca>Tca	p.A12S	ZBTB22_ENST00000418724.1_Missense_Mutation_p.A12S	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						AGGGGAAGTGCTGCCCCACTG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	24	23			NA	NA	6		NA											NA				33284660		2203	4298	6501	SO:0001583	missense			Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104	NA	9278		-, BTB/POZ domain containing, Zinc fingers, C2H2-type	13085	protein-coding gene	gene with protein product		611439	zinc finger protein 297	ZNF297	NA		Standard		NM_005453	NA	Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.34G>T	6.37:g.33284660C>A	ENSP00000407545:p.Ala12Ser	NA	B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	37	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	C	9.459	1.092534	0.20471	.	.	ENSG00000236104	ENST00000418724;ENST00000431845;ENST00000441117	T;T;T	0.64438	3.4;3.4;-0.1	4.72	2.81	0.32909	.	.	.	.	.	T	0.18467	0.0443	N	0.08118	0	0.22728	N	0.998807	B	0.30793	0.295	B	0.28553	0.091	T	0.06935	-1.0799	9	0.40728	T	0.16	.	5.9203	0.19078	0.0:0.6968:0.1944:0.1088	.	12	O15209	ZBT22_HUMAN	S	12	ENSP00000404403:A12S;ENSP00000407545:A12S;ENSP00000413172:A12S	ENSP00000404403:A12S	A	-	1	0	ZBTB22	33392638	0.605000	0.26941	1.000000	0.80357	0.974000	0.67602	0.552000	0.23376	1.187000	0.43000	0.643000	0.83706	GCA	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076183.2		-	ENST00000431845.2	Missense_Mutation	SNP	6 : 33284660 - 33284660 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	198	14
GRWD1	83743	broad.mit.edu	37	19	48956001	48956001	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48956001G>A	ENST00000253237.5	+	7	1293	c.1060G>A	c.(1060-1062)Gcc>Acc	p.A354T		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	354						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		GCAGCACGTGGCCCCCGTGAC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	65	66			NA	NA	19		NA											NA				48956001		2203	4300	6503	SO:0001583	missense			AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447	83743	83743		WD repeat domain containing	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597			NA	15885502	Standard	NM_031485	NM_031485	NA	Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		ENST00000253237.5:c.1060G>A	19.37:g.48956001G>A	ENSP00000253237:p.Ala354Thr	NA	Q8TF59	37	CCDS12720.1	.	.	.	.	.	.	.	.	.	.	G	33	5.195000	0.94960	.	.	ENSG00000105447	ENST00000253237	T	0.61040	0.14	5.34	5.34	0.76211	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.181454	0.46145	D	0.000309	T	0.73055	0.3538	M	0.87269	2.87	0.58432	D	0.999998	P	0.44281	0.831	P	0.51974	0.686	T	0.70930	-0.4738	10	0.19147	T	0.46	.	18.1988	0.89831	0.0:0.0:1.0:0.0	.	354	Q9BQ67	GRWD1_HUMAN	T	354	ENSP00000253237:A354T	ENSP00000253237:A354T	A	+	1	0	GRWD1	53647813	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.731000	0.74785	2.686000	0.91538	0.561000	0.74099	GCC	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466122.1		+	ENST00000253237.5	Missense_Mutation	SNP	19 : 48956001 - 48956001 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	658	28
UMOD	7369	broad.mit.edu	37	16	20355365	20355365	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20355365C>T	ENST00000396134.2	-	7	1534	c.1411G>A	c.(1411-1413)Gcc>Acc	p.A471T	UMOD_ENST00000424589.1_Missense_Mutation_p.A471T|UMOD_ENST00000570689.1_Missense_Mutation_p.A438T|UMOD_ENST00000396142.2_Missense_Mutation_p.A438T|UMOD_ENST00000396138.4_Missense_Mutation_p.A487T|UMOD_ENST00000302509.4_Missense_Mutation_p.A438T	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	438	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGCTGTAGGGCGGTCTTCAGG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	98	103			NA	NA	16		NA											NA				20355365		2203	4300	6503	SO:0001583	missense			M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344	7369	7369			12559	protein-coding gene	gene with protein product	Tamm-Horsfall glycoprotein, uromucoid	191845	uromodulin (uromucoid, Tamm-Horsfall glycoprotein)		NA	8382593	Standard		NM_003361	NA	Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000396134.2:c.1411G>A	16.37:g.20355365C>T	ENSP00000379438:p.Ala471Thr	NA	B3KP48|B3KRN9|Q540J6|Q6ZS84|Q8IYG0	37		.	.	.	.	.	.	.	.	.	.	C	13.80	2.343922	0.41498	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	5.49	1.89	0.25635	Zona pellucida sperm-binding protein (3);	0.137477	0.34110	N	0.004243	T	0.76659	0.4018	L	0.52364	1.645	0.19775	N	0.999956	P;P	0.40282	0.543;0.711	B;P	0.45610	0.18;0.487	T	0.67647	-0.5617	10	0.59425	D	0.04	-31.8589	7.0744	0.25197	0.3886:0.4834:0.0:0.128	.	471;438	E9PEA4;P07911	.;UROM_HUMAN	T	438;471;471;438;416;438	ENSP00000379438:A471T;ENSP00000416346:A471T;ENSP00000306279:A438T;ENSP00000379446:A438T	ENSP00000306279:A438T	A	-	1	0	UMOD	20262866	0.358000	0.24947	0.989000	0.46669	0.740000	0.42216	0.371000	0.20450	0.339000	0.23719	-0.264000	0.10439	GCC	UMOD-002	NOVEL	non_canonical_conserved|basic	protein_coding	NA	protein_coding	OTTHUMT00000254334.2		-	ENST00000396134.2	Missense_Mutation	SNP	16 : 20355365 - 20355365 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	305	69
ISX	91464	broad.mit.edu	37	22	35478605	35478605	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:35478605C>T	ENST00000308700.6	+	2	1276	c.324C>T	c.(322-324)gaC>gaT	p.D108D	ISX_ENST00000404699.2_Silent_p.D108D	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	108						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						ACTACCCAGACGTTCACATCC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	99	105			NA	NA	22		NA											NA				35478605		2203	4300	6503	SO:0001819	synonymous_variant			AK025181	CCDS33640.1	22q12.3	2011-06-20			ENSG00000175329	ENSG00000175329	91464	91464		Homeoboxes / PRD class	28084	protein-coding gene	gene with protein product		612019			NA		Standard	NM_001008494	NM_001008494	NA	Approved	RAXLX	uc003anj.3	Q2M1V0	OTTHUMG00000150962	ENST00000308700.6:c.324C>T	22.37:g.35478605C>T		NA	Q68DJ5	37	CCDS33640.1																																																																																			ISX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320662.1		+	ENST00000308700.6	Silent	SNP	22 : 35478605 - 35478605 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	421	66
LRP12	29967	broad.mit.edu	37	8	105510183	105510183	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105510183G>T	ENST00000276654.5	-	5	705	c.597C>A	c.(595-597)atC>atA	p.I199I	LRP12_ENST00000424843.2_Silent_p.I180I	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	199	LDL-receptor class A 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTTTGGCACAGATCTCTTCAT	0.428		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	8		NA											NA				105510183		2203	4300	6503	SO:0001819	synonymous_variant			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650	29967	29967		Low density lipoprotein receptors	31708	protein-coding gene	gene with protein product					NA	12809483, 14676824	Standard	NM_013437	NM_013437	NA	Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.597C>A	8.37:g.105510183G>T		NA	A8K137|B4DRQ2	37	CCDS6303.1																																																																																			LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380821.1		-	ENST00000276654.5	Silent	SNP	8 : 105510183 - 105510183 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	744	122
RAP1GDS1	5910	broad.mit.edu	37	4	99214651	99214651	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:99214651G>T	ENST00000408927.3	+	2	210	c.97G>T	c.(97-99)Gcc>Tcc	p.A33S	RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.A34S|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.A34S|RAP1GDS1_ENST00000512857.1_3'UTR|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.A34S|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.A34S|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.A33S	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	33							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TCTGCTTCAAGCCCTGGCTCA	0.358		NA	T	NUP98	T-ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		4	4q21-q25	5910	RAP1, GTP-GDP dissociation stimulator 1		L	0													71	65	66			NA	NA	4		NA											NA				99214651		1846	4088	5934	SO:0001583	missense				CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698	5910	5910		Armadillo repeat containing	9859	protein-coding gene	gene with protein product		179502			NA	8262526, 17951244	Standard	NM_001100426	NM_001100426	NA	Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.97G>T	4.37:g.99214651G>T	ENSP00000386153:p.Ala33Ser	NA	Q4KMV2|Q9NYM2|Q9NZA8	37	CCDS43253.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052140	0.75960	.	.	ENSG00000138698	ENST00000509011;ENST00000380158;ENST00000264572;ENST00000508213;ENST00000408927;ENST00000514122;ENST00000453712;ENST00000511212;ENST00000408900;ENST00000339360	T;T;T;T;T;T;T;T;T;T	0.52295	1.58;1.43;1.55;0.67;1.43;1.28;1.43;0.74;1.43;1.44	5.6	4.75	0.60458	Armadillo-like helical (1);	0.132185	0.48767	N	0.000170	T	0.59770	0.2218	L	0.56769	1.78	0.46874	D	0.999235	P;D;D;D;P;P;P	0.76494	0.869;0.996;0.994;0.999;0.822;0.824;0.822	P;D;D;D;P;B;P	0.78314	0.542;0.987;0.97;0.991;0.7;0.348;0.7	T	0.57705	-0.7765	10	0.07990	T	0.79	-0.798	13.7348	0.62811	0.0:0.0:0.8455:0.1544	.	34;33;34;33;34;34;33	E9PH06;P52306-2;Q499L7;P52306;Q4QQI8;G5E9P9;B3KNU0	.;.;.;GDS1_HUMAN;.;.;.	S	33;34;34;33;33;33;34;34;33;34	ENSP00000425992:A33S;ENSP00000369503:A34S;ENSP00000264572:A34S;ENSP00000426096:A33S;ENSP00000386153:A33S;ENSP00000424324:A33S;ENSP00000407157:A34S;ENSP00000421599:A34S;ENSP00000386223:A33S;ENSP00000340454:A34S	ENSP00000264572:A34S	A	+	1	0	RAP1GDS1	99433674	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.016000	0.76393	1.328000	0.45358	0.557000	0.71058	GCC	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363273.2		+	ENST00000408927.3	Missense_Mutation	SNP	4 : 99214651 - 99214651 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	177	33
MS4A2	2206	broad.mit.edu	37	11	59857875	59857875	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59857875A>G	ENST00000278888.3	+	3	355	c.253A>G	c.(253-255)Att>Gtt	p.I85V		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	85					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	TGTACTTGATATTTCACACAT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													217	208	211			NA	NA	11		NA											NA				59857875		2201	4295	6496	SO:0001583	missense			M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534	2206	2206			7316	protein-coding gene	gene with protein product	Fc fragment of IgE, high affinity I, receptor for; beta polypeptide	147138	IgE responsiveness (atopic), membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)	FCER1B, IGER, APY	NA	1386024	Standard		NM_000139	NA	Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.253A>G	11.37:g.59857875A>G	ENSP00000278888:p.Ile85Val	NA	Q54A81	37	CCDS7980.1	.	.	.	.	.	.	.	.	.	.	A	0.282	-0.985742	0.02180	.	.	ENSG00000149534	ENST00000278888	T	0.02177	4.41	4.68	-7.35	0.01422	.	2.621580	0.01288	N	0.009922	T	0.01387	0.0045	N	0.16656	0.425	0.09310	N	1	B;B	0.14805	0.011;0.011	B;B	0.15870	0.014;0.014	T	0.46205	-0.9208	10	0.16420	T	0.52	2.0808	2.9836	0.05961	0.2451:0.2431:0.3929:0.1188	.	15;85	Q14298;Q01362	.;FCERB_HUMAN	V	85	ENSP00000278888:I85V	ENSP00000278888:I85V	I	+	1	0	MS4A2	59614451	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.683000	0.05179	-1.536000	0.01738	-0.297000	0.09499	ATT	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393844.1		+	ENST00000278888.3	Missense_Mutation	SNP	11 : 59857875 - 59857875 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	775	149
FSIP1	161835	broad.mit.edu	37	15	40005738	40005738	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40005738T>G	ENST00000350221.3	-	10	1304	c.1095A>C	c.(1093-1095)ggA>ggC	p.G365G		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	365										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		GTATCTTTTCTCCTGGAGTTA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													225	219	221			NA	NA	15		NA											NA				40005738		2203	4300	6503	SO:0001819	synonymous_variant			BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667	161835	161835			21674	protein-coding gene	gene with protein product		615795			NA	14702039	Standard	NM_152597	NM_152597	NA	Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.1095A>C	15.37:g.40005738T>G		NA	Q6X2C8|Q86Y89	37	CCDS10050.1																																																																																			FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252118.2		-	ENST00000350221.3	Silent	SNP	15 : 40005738 - 40005738 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1178	210
GLTSCR1	29998	broad.mit.edu	37	19	48197882	48197882	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48197882C>T	ENST00000396720.3	+	8	2988	c.2794C>T	c.(2794-2796)Ccg>Tcg	p.P932S	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	932							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GGTCCCTGAGCCGGCAGCACC	0.682		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	19		NA											NA				48197882		1843	4078	5921	SO:0001583	missense			AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169	29998	29998			4332	protein-coding gene	gene with protein product		605690			NA	10708517	Standard	NM_015711	NM_015711	NA	Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.2794C>T	19.37:g.48197882C>T	ENSP00000379946:p.Pro932Ser	NA	A8MW01	37	CCDS46134.1	.	.	.	.	.	.	.	.	.	.	C	7.119	0.577510	0.13686	.	.	ENSG00000063169	ENST00000396720	T	0.29655	1.56	2.67	2.67	0.31697	.	.	.	.	.	T	0.22126	0.0533	N	0.24115	0.695	0.27966	N	0.93657	D	0.55172	0.97	P	0.45506	0.483	T	0.04693	-1.0933	9	0.19147	T	0.46	.	10.9231	0.47176	0.0:1.0:0.0:0.0	.	932	Q9NZM4	GSCR1_HUMAN	S	932	ENSP00000379946:P932S	ENSP00000379946:P932S	P	+	1	0	GLTSCR1	52889694	0.747000	0.28283	0.604000	0.28916	0.012000	0.07955	0.000000	0.12993	1.436000	0.47453	0.289000	0.19496	CCG	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465846.1		+	ENST00000396720.3	Missense_Mutation	SNP	19 : 48197882 - 48197882 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	228	45
C6	729	broad.mit.edu	37	5	41149447	41149447	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41149447C>T	ENST00000263413.3	-	17	2783	c.2519G>A	c.(2518-2520)gGc>gAc	p.G840D	C6_ENST00000337836.5_Missense_Mutation_p.G840D	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	840	C5b-binding domain.|Complement control factor I module 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TAACTGGCGGCCGTCTTGGCA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	137	138			NA	NA	5		NA											NA				41149447		2203	4300	6503	SO:0001583	missense			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537	729	729		Complement system	1339	protein-coding gene	gene with protein product		217050			NA		Standard		NM_001115131	NA	Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2519G>A	5.37:g.41149447C>T	ENSP00000263413:p.Gly840Asp	NA		37	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	2.405	-0.336634	0.05278	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.60299	0.2;0.2	5.85	5.85	0.93711	.	0.306075	0.37053	N	0.002274	T	0.32041	0.0816	N	0.14661	0.345	0.24034	N	0.996103	B	0.16396	0.017	B	0.12837	0.008	T	0.31943	-0.9925	10	0.07030	T	0.85	-20.1278	5.7292	0.18030	0.0:0.6574:0.1663:0.1763	.	840	P13671	CO6_HUMAN	D	840	ENSP00000338861:G840D;ENSP00000263413:G840D	ENSP00000263413:G840D	G	-	2	0	C6	41185204	0.006000	0.16342	0.839000	0.33178	0.196000	0.23810	1.784000	0.38674	2.768000	0.95171	0.655000	0.94253	GGC	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000211592.1		-	ENST00000263413.3	Missense_Mutation	SNP	5 : 41149447 - 41149447 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	980	158
COL6A3	1293	broad.mit.edu	37	2	238253142	238253142	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238253142G>T	ENST00000295550.4	-	36	7971	c.7519C>A	c.(7519-7521)Cta>Ata	p.L2507I	COL6A3_ENST00000347401.3_Missense_Mutation_p.L2306I|COL6A3_ENST00000409809.1_Missense_Mutation_p.L2301I|COL6A3_ENST00000353578.4_Missense_Mutation_p.L2301I|COL6A3_ENST00000346358.4_Missense_Mutation_p.L2307I|COL6A3_ENST00000472056.1_Missense_Mutation_p.L1900I	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2507	Nonhelical region.|VWFA 11.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTCCTCATTAGGAATCCGTTC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	135	137			NA	NA	2		NA											NA				238253142		2203	4300	6503	SO:0001583	missense			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359	1293	1293		Collagens	2213	protein-coding gene	gene with protein product		120250			NA	1339440, 11992252	Standard	NM_004369	NM_004369	NA	Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7519C>A	2.37:g.238253142G>T	ENSP00000295550:p.Leu2507Ile	NA	Q16501|Q53QF4|Q53QF6	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	8.214	0.800919	0.16397	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	4.87	3.99	0.46301	von Willebrand factor, type A (3);	0.000000	0.44285	D	0.000475	D	0.89312	0.6679	M	0.76574	2.34	0.51482	D	0.999924	D;D;D;D	0.76494	0.999;0.996;0.999;0.999	D;D;D;D	0.83275	0.972;0.936;0.953;0.996	D	0.87282	0.2293	10	0.24483	T	0.36	.	13.4122	0.60948	0.0763:0.0:0.9237:0.0	.	1900;1900;2301;2507	E9PFQ6;B7ZMJ7;P12111-2;P12111	.;.;.;CO6A3_HUMAN	I	2507;2306;2301;1900;2301;2307	ENSP00000295550:L2507I;ENSP00000315609:L2306I;ENSP00000315873:L2301I;ENSP00000418285:L1900I;ENSP00000386844:L2301I;ENSP00000295546:L2307I	ENSP00000295550:L2507I	L	-	1	2	COL6A3	237917881	1.000000	0.71417	0.998000	0.56505	0.152000	0.21847	6.486000	0.73629	1.171000	0.42768	0.655000	0.94253	CTA	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000315790.2		-	ENST00000295550.4	Missense_Mutation	SNP	2 : 238253142 - 238253142 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	856	222
YY1AP1	55249	broad.mit.edu	37	1	155630344	155630344	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155630344G>A	ENST00000359205.5	-	10	1582	c.1324C>T	c.(1324-1326)Cca>Tca	p.P442S	YY1AP1_ENST00000311573.5_Missense_Mutation_p.P422S|YY1AP1_ENST00000347088.5_Missense_Mutation_p.P453S|YY1AP1_ENST00000368340.5_Missense_Mutation_p.P571S|YY1AP1_ENST00000368330.2_Missense_Mutation_p.P453S|YY1AP1_ENST00000404643.1_Missense_Mutation_p.P433S|YY1AP1_ENST00000355499.4_Missense_Mutation_p.P453S|YY1AP1_ENST00000407221.1_Missense_Mutation_p.P422S|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000361831.5_Missense_Mutation_p.P442S|YY1AP1_ENST00000535662.1_Missense_Mutation_p.P299S|YY1AP1_ENST00000295566.4_Missense_Mutation_p.P499S|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000368339.5_Missense_Mutation_p.P591S	NM_001198900.1	NP_001185829.1			YY1 associated protein 1	NA										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GGCTGTATTGGGTGAGGAATC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	51	48			NA	NA	1		NA											NA				155630344		2203	4297	6500	SO:0001583	missense			BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374	55249	55249			30935	protein-coding gene	gene with protein product		607860			NA	11710830	Standard	NM_139118	NM_139119	NA	Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000359205.5:c.1324C>T	1.37:g.155630344G>A	ENSP00000352134:p.Pro442Ser	NA		37		.	.	.	.	.	.	.	.	.	.	g	1.729	-0.494657	0.04322	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662	T;T;T;T;T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	2.53	-1.25	0.09405	.	1.325680	0.04977	N	0.465021	T	0.08088	0.0202	N	0.08118	0	0.09310	N	0.999995	B;B;B;B;B	0.34015	0.024;0.01;0.435;0.026;0.07	B;B;B;B;B	0.32465	0.032;0.022;0.146;0.046;0.023	T	0.24512	-1.0158	10	0.66056	D	0.02	.	4.4857	0.11788	0.2871:0.0:0.5222:0.1907	.	591;433;499;453;571	B4DMP2;Q9H869-4;Q9H869;Q9H869-2;Q5VYZ1	.;.;YYAP1_HUMAN;.;.	S	442;453;422;453;442;571;499;453;422;433;591;299	ENSP00000352134:P442S;ENSP00000347686:P453S;ENSP00000311138:P422S;ENSP00000316079:P453S;ENSP00000355298:P442S;ENSP00000357324:P571S;ENSP00000295566:P499S;ENSP00000357314:P453S;ENSP00000385791:P422S;ENSP00000385390:P433S;ENSP00000357323:P591S;ENSP00000437926:P299S	ENSP00000295566:P499S	P	-	1	0	YY1AP1	153896968	0.000000	0.05858	0.077000	0.20336	0.031000	0.12232	-0.134000	0.10436	-0.477000	0.06832	0.306000	0.20318	CCA	YY1AP1-027	PUTATIVE	alternative_5_UTR|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000086021.2		-	ENST00000359205.5	Missense_Mutation	SNP	1 : 155630344 - 155630344 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	640	114
CCDC6	8030	broad.mit.edu	37	10	61572421	61572421	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61572421C>A	ENST00000263102.6	-	5	1050	c.819G>T	c.(817-819)aaG>aaT	p.K273N		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	273						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		TCAGTTGCTTCTTCAGCCGTT	0.418		NA	T	RET	NSCLC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		10	10q21	8030	coiled-coil domain containing 6		E	0													107	108	108			NA	NA	10		NA											NA				61572421		2203	4300	6503	SO:0001583	missense			S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091	8030	8030			18782	protein-coding gene	gene with protein product	DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1	601985	DNA segment on chromosome 10 (unique) 170	TST1, D10S170	NA	8058316, 6745938	Standard	NM_005436	NM_005436	NA	Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.819G>T	10.37:g.61572421C>A	ENSP00000263102:p.Lys273Asn	NA	Q15250|Q6GSG7	37	CCDS7257.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762443	0.89932	.	.	ENSG00000108091	ENST00000263102	D	0.94758	-3.51	5.73	5.73	0.89815	.	0.084305	0.85682	D	0.000000	D	0.95968	0.8687	L	0.52573	1.65	0.80722	D	1	D	0.56287	0.975	P	0.59761	0.863	D	0.96012	0.9002	10	0.72032	D	0.01	-28.4454	19.8904	0.96928	0.0:1.0:0.0:0.0	.	273	Q16204	CCDC6_HUMAN	N	273	ENSP00000263102:K273N	ENSP00000263102:K273N	K	-	3	2	CCDC6	61242427	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	4.879000	0.63100	2.697000	0.92050	0.650000	0.86243	AAG	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048176.2		-	ENST00000263102.6	Missense_Mutation	SNP	10 : 61572421 - 61572421 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	460	102
DPF1	8193	broad.mit.edu	37	19	38706892	38706892	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38706892C>A	ENST00000416611.1	-	9	912	c.789G>T	c.(787-789)aaG>aaT	p.K263N	DPF1_ENST00000420980.2_Missense_Mutation_p.K245N|DPF1_ENST00000414789.1_Missense_Mutation_p.K207N|DPF1_ENST00000412732.1_Missense_Mutation_p.K207N|DPF1_ENST00000456296.1_Missense_Mutation_p.K263N|DPF1_ENST00000355526.4_Missense_Mutation_p.K289N			Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	245					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGTCGGGCGCCTTCTTGGCTG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	57	57			NA	NA	19		NA											NA				38706892		2203	4300	6503	SO:0001583	missense			U43843	CCDS33008.2, CCDS46064.1, CCDS46065.1	19q13.12	2013-01-28			ENSG00000011332	ENSG00000011332	NA	8193		Zinc fingers, PHD-type	20225	protein-coding gene	gene with protein product		601670			NA	8812431	Standard		XM_005259288	NA	Approved	neuro-d4, NEUD4, BAF45b	uc002ohm.3	Q92782	OTTHUMG00000157164	ENST00000416611.1:c.789G>T	19.37:g.38706892C>A	ENSP00000390223:p.Lys263Asn	NA	B3KSY8|Q08AJ0	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.05|19.05	3.752436|3.752436	0.69533|0.69533	.|.	.|.	ENSG00000011332|ENSG00000011332	ENST00000355526|ENST00000420980;ENST00000437720;ENST00000412732;ENST00000416611;ENST00000414789;ENST00000456296;ENST00000438060	.|D;D;D;D;D;T	.|0.91124	.|-2.24;-2.79;-2.29;-2.79;-2.76;2.25	4.39|4.39	3.35|3.35	0.38373|0.38373	.|.	.|0.000000	.|0.64402	.|D	.|0.000005	D|D	0.93374|0.93374	0.7887|0.7887	M|M	0.74467|0.74467	2.265|2.265	0.47245|0.47245	D|D	0.999364|0.999364	.|D;D;D;D;D	.|0.89917	.|0.983;1.0;1.0;1.0;0.968	.|P;D;D;D;P	.|0.97110	.|0.725;0.999;0.996;1.0;0.694	D|D	0.92151|0.92151	0.5728|0.5728	5|10	.|0.66056	.|D	.|0.02	-17.6035|-17.6035	5.7908|5.7908	0.18359|0.18359	0.0:0.6829:0.0:0.3171|0.0:0.6829:0.0:0.3171	.|.	.|263;262;289;289;245	.|E9PDV3;C8C3P2;Q6PJ73;Q92782-2;Q92782	.|.;.;.;.;DPF1_HUMAN	C|N	282|245;289;207;263;207;263;207	.|ENSP00000397354:K245N;ENSP00000412098:K207N;ENSP00000390223:K263N;ENSP00000391884:K207N;ENSP00000411569:K263N;ENSP00000416347:K207N	.|ENSP00000412098:K207N	G|K	-|-	1|3	0|2	DPF1|DPF1	43398732|43398732	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.917000|0.917000	0.54804|0.54804	2.245000|2.245000	0.43133|0.43133	1.163000|1.163000	0.42636|0.42636	0.561000|0.561000	0.74099|0.74099	GGC|AAG	DPF1-003	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000347723.1		-	ENST00000416611.1	Missense_Mutation	SNP	19 : 38706892 - 38706892 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	284	68
SHOC2	8036	broad.mit.edu	37	10	112724738	112724738	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:112724738G>A	ENST00000369452.4	+	2	967	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	SHOC2_ENST00000265277.5_Missense_Mutation_p.E208K|SHOC2_ENST00000489390.1_Intron	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	208					fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		AACTACTGTGGAAAAGGACAT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	75	75			NA	NA	10		NA											NA				112724738		2203	4300	6503	SO:0001583	missense			AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061	8036	8036			15454	protein-coding gene	gene with protein product		602775	soc-2 (suppressor of clear, C.elegans) homolog		NA	9618511, 9674433, 10783161	Standard	NM_007373	NM_007373	NA	Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.622G>A	10.37:g.112724738G>A	ENSP00000358464:p.Glu208Lys	NA	A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	37	CCDS7568.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483696	0.63962	.	.	ENSG00000108061	ENST00000265277;ENST00000369452;ENST00000451838	T;T;T	0.79653	1.83;1.85;-1.29	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.81460	0.4827	N	0.08118	0	0.80722	D	1	D;B	0.56035	0.974;0.016	D;B	0.70487	0.969;0.007	D	0.85741	0.1337	10	0.87932	D	0	.	19.7369	0.96210	0.0:0.0:1.0:0.0	.	208;208	Q9UQ13-2;Q9UQ13	.;SHOC2_HUMAN	K	208;208;44	ENSP00000265277:E208K;ENSP00000358464:E208K;ENSP00000408275:E44K	ENSP00000265277:E208K	E	+	1	0	SHOC2	112714728	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.062000	0.89475	2.665000	0.90641	0.561000	0.74099	GAA	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050355.1		+	ENST00000369452.4	Missense_Mutation	SNP	10 : 112724738 - 112724738 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	446	67
NSUN2	54888	broad.mit.edu	37	5	6604331	6604331	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:6604331T>G	ENST00000506139.1	-	16	1834	c.1772A>C	c.(1771-1773)gAt>gCt	p.D591A	NSUN2_ENST00000264670.6_Missense_Mutation_p.D626A|NSUN2_ENST00000539938.1_Missense_Mutation_p.D390A	NM_001193455.1	NP_001180384.1	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	626						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TATCTTAACATCTTCCATTGA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	110	110			NA	NA	5		NA											NA				6604331		2203	4300	6503	SO:0001583	missense			AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474	54888	54888		NOP2/Sun domain containing	25994	protein-coding gene	gene with protein product	tRNA methyltransferase 4 homolog (S. cerevisiae), Myc-induced SUN-domain-containing protein	610916	NOL1/NOP2/Sun domain family, member 2, NOP2/Sun domain family, member 2, mental retardation, non-syndromic, autosomal recessive, 5	MRT5	NA	17071714, 22541559	Standard	NM_017755	NM_017755	NA	Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000506139.1:c.1772A>C	5.37:g.6604331T>G	ENSP00000420957:p.Asp591Ala	NA	B2RNR4|Q9BVN4|Q9H858|Q9NXD9	37	CCDS54832.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.407983	0.83340	.	.	ENSG00000037474	ENST00000264670;ENST00000539938;ENST00000506139	T;T;T	0.64438	-0.1;-0.1;-0.1	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.82038	0.4950	M	0.90977	3.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;0.996	T	0.81623	-0.0849	10	0.15952	T	0.53	-52.9141	16.3668	0.83335	0.0:0.0:0.0:1.0	.	591;626;626	B4DQW2;Q08J23;A8K529	.;NSUN2_HUMAN;.	A	626;390;591	ENSP00000264670:D626A;ENSP00000444338:D390A;ENSP00000420957:D591A	ENSP00000264670:D626A	D	-	2	0	NSUN2	6657331	1.000000	0.71417	0.952000	0.39060	0.677000	0.39632	6.985000	0.76193	2.322000	0.78497	0.528000	0.53228	GAT	NSUN2-004	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365825.1		-	ENST00000506139.1	Missense_Mutation	SNP	5 : 6604331 - 6604331 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	250	43
PCDH19	57526	broad.mit.edu	37	X	99662630	99662630	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:99662630C>T	ENST00000373034.4	-	1	2641	c.966G>A	c.(964-966)ggG>ggA	p.G322G	PCDH19_ENST00000420881.2_Silent_p.G322G|PCDH19_ENST00000255531.7_Silent_p.G322G	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	322	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TGGAATTGGGCCCCAAGTCCT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	56	54			NA	NA	X		NA											NA				99662630		2188	4266	6454	SO:0001819	synonymous_variant			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194	57526	57526		Cadherins / Protocadherins : Non-clustered	14270	protein-coding gene	gene with protein product		300460	epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)	EFMR	NA	11549318, 18469813, 19752159	Standard	NM_020766	NM_020766	NA	Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.966G>A	X.37:g.99662630C>T		NA	B0LDS4|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	37	CCDS55462.1																																																																																			PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057479.2		-	ENST00000373034.4	Silent	SNP	X : 99662630 - 99662630 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	279	65
CDH11	1009	broad.mit.edu	37	16	65038694	65038694	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:65038694G>A	ENST00000394156.3	-	3	532	c.79C>T	c.(79-81)Cgg>Tgg	p.R27W	CDH11_ENST00000566827.1_Intron|CDH11_ENST00000268603.4_Missense_Mutation_p.R27W|CDH11_ENST00000569624.1_5'UTR			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	27					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TGCCCCCGCCGCTCTGGGGCA	0.612		NA	T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		16	16q22.1	1009	cadherin 11, type 2, OB-cadherin (osteoblast)		M	0													18	21	20			NA	NA	16		NA											NA				65038694		2202	4299	6501	SO:0001583	missense			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937	1009	1009		Cadherins / Major cadherins	1750	protein-coding gene	gene with protein product	OB-Cadherin	600023			NA	9615235	Standard	NM_033664	NM_001797	NA	Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000394156.3:c.79C>T	16.37:g.65038694G>A	ENSP00000377711:p.Arg27Trp	NA	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	37		.	.	.	.	.	.	.	.	.	.	G	8.868	0.948665	0.18356	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000536902	T;T	0.56776	0.44;0.44	5.74	2.33	0.28932	.	0.534254	0.19811	N	0.105525	T	0.36220	0.0959	L	0.29908	0.895	0.80722	D	1	B;P	0.41450	0.0;0.75	B;B	0.37346	0.0;0.247	T	0.18147	-1.0346	10	0.66056	D	0.02	.	7.7322	0.28793	0.0908:0.0:0.4795:0.4297	.	27;27	P55287-2;P55287	.;CAD11_HUMAN	W	27	ENSP00000268603:R27W;ENSP00000377711:R27W	ENSP00000268603:R27W	R	-	1	2	CDH11	63596195	0.503000	0.26115	0.996000	0.52242	0.546000	0.35178	0.589000	0.23939	0.692000	0.31613	0.591000	0.81541	CGG	CDH11-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000268756.1		-	ENST00000394156.3	Missense_Mutation	SNP	16 : 65038694 - 65038694 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	75	14
USP9X	8239	broad.mit.edu	37	X	41075627	41075627	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41075627G>A	ENST00000324545.8	+	35	6440	c.5807G>A	c.(5806-5808)cGt>cAt	p.R1936H	USP9X_ENST00000378308.2_Missense_Mutation_p.R1936H	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	NA					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATGATGAAGCGTATGTCATAC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(172;1807 2695 35459 49286)							NA				0													160	151	154			NA	NA	X		NA											NA				41075627		2199	4297	6496	SO:0001583	missense			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486	8239	8239		Ubiquitin-specific peptidases	12632	protein-coding gene	gene with protein product		300072	ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila), ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila), ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)		NA	8922996	Standard	NM_004652	NM_001039590	NA	Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.5807G>A	X.37:g.41075627G>A	ENSP00000316357:p.Arg1936His	NA	O75550|Q8WWT3|Q8WX12	37	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668534	0.88348	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03413	3.94;3.94	5.8	5.8	0.92144	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.18841	0.0452	M	0.77313	2.365	0.80722	D	1	D;P	0.89917	1.0;0.65	D;B	0.65233	0.933;0.372	T	0.00134	-1.2009	10	0.48119	T	0.1	.	19.0114	0.92874	0.0:0.0:1.0:0.0	.	1936;1936	Q93008-1;Q93008	.;USP9X_HUMAN	H	1936	ENSP00000367558:R1936H;ENSP00000316357:R1936H	ENSP00000316357:R1936H	R	+	2	0	USP9X	40960571	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	9.465000	0.97660	2.439000	0.82584	0.544000	0.68410	CGT	USP9X-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056250.4		+	ENST00000324545.8	Missense_Mutation	SNP	X : 41075627 - 41075627 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	582	152
PRSS23	11098	broad.mit.edu	37	11	86519669	86519669	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:86519669G>T	ENST00000280258.5	+	2	1409	c.984G>T	c.(982-984)caG>caT	p.Q328H	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.Q296H	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	328					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GGAAGAGACAGCAGCAGAAGT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	96	93			NA	NA	11		NA											NA				86519669		2201	4299	6500	SO:0001583	missense			AF015287	CCDS8278.1	11q14.2	2010-05-12			ENSG00000150687	ENSG00000150687	11098	11098		Serine peptidases / Serine peptidases	14370	protein-coding gene	gene with protein product					NA		Standard	NM_007173	XM_005273727	NA	Approved	SPUVE, SIG13	uc001pcb.3	O95084		ENST00000280258.5:c.984G>T	11.37:g.86519669G>T	ENSP00000280258:p.Gln328His	NA	B2RDJ1|Q6IBI0	37	CCDS8278.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.089988	0.36855	.	.	ENSG00000150687	ENST00000280258;ENST00000441050	.	.	.	5.74	3.82	0.43975	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.695759	0.15293	N	0.270060	T	0.33847	0.0877	N	0.08118	0	0.34112	D	0.663066	P;P	0.37612	0.602;0.602	P;B	0.45377	0.478;0.353	T	0.41627	-0.9498	8	.	.	.	-0.5852	10.6054	0.45392	0.0725:0.1339:0.7936:0.0	.	296;328	B4E2J3;O95084	.;PRS23_HUMAN	H	328;296	.	.	Q	+	3	2	PRSS23	86197317	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	2.917000	0.48821	0.727000	0.32360	0.563000	0.77884	CAG	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393805.2		+	ENST00000280258.5	Missense_Mutation	SNP	11 : 86519669 - 86519669 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	405	13
TYW1	55253	broad.mit.edu	37	7	66660217	66660217	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66660217C>T	ENST00000359626.5	+	15	2034	c.1870C>T	c.(1870-1872)Cat>Tat	p.H624Y		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	624					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CGTGCCCTGGCATGAGGAAGT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	153	156			NA	NA	7		NA											NA				66660217		2203	4300	6503	SO:0001583	missense			AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874	55253	55253			25598	protein-coding gene	gene with protein product	tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)	611243	radical S-adenosyl methionine and flavodoxin domains 1	RSAFD1	NA	16162496, 17150819	Standard	NM_018264	NM_018264	NA	Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1870C>T	7.37:g.66660217C>T	ENSP00000352645:p.His624Tyr	NA	Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	37	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943301	0.53079	.	.	ENSG00000198874	ENST00000359626	T	0.51574	0.7	3.7	3.7	0.42460	tRNA wybutosine-synthesis (1);	0.000000	0.64402	U	0.000001	T	0.46870	0.1415	L	0.56340	1.77	0.80722	D	1	B	0.25235	0.121	B	0.34779	0.189	T	0.45891	-0.9230	10	0.33940	T	0.23	.	13.2966	0.60301	0.0:1.0:0.0:0.0	.	624	Q9NV66	TYW1_HUMAN	Y	624	ENSP00000352645:H624Y	ENSP00000352645:H624Y	H	+	1	0	TYW1	66297652	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.626000	0.74253	1.755000	0.51935	0.514000	0.50259	CAT	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251932.2		+	ENST00000359626.5	Missense_Mutation	SNP	7 : 66660217 - 66660217 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	444	105
APBA2	321	broad.mit.edu	37	15	29393844	29393844	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:29393844G>A	ENST00000558402.1	+	11	1980	c.1381G>A	c.(1381-1383)Gcc>Acc	p.A461T	APBA2_ENST00000558330.1_Missense_Mutation_p.A449T|APBA2_ENST00000558259.1_Missense_Mutation_p.A461T|APBA2_ENST00000561069.1_Missense_Mutation_p.A461T|APBA2_ENST00000411764.1_Missense_Mutation_p.A449T			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	461	PID.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CTCCTACATCGCCGACATTGG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	75	85			NA	NA	15		NA											NA				29393844		2203	4300	6503	SO:0001583	missense			AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053	321	321			579	protein-coding gene	gene with protein product		602712	X11-like, amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)	X11L, MINT2	NA	8955346	Standard	NM_005503	NM_005503	NA	Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1381G>A	15.37:g.29393844G>A	ENSP00000453293:p.Ala461Thr	NA	O60571	37	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	34	5.312706	0.95655	.	.	ENSG00000034053	ENST00000411764;ENST00000219865;ENST00000382938	T	0.32272	1.46	4.27	4.27	0.50696	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.130099	0.48767	D	0.000177	T	0.57198	0.2037	M	0.78285	2.405	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.991;1.0;0.976;0.977	T	0.64158	-0.6473	10	0.87932	D	0	.	16.2197	0.82251	0.0:0.0:1.0:0.0	.	449;153;449;461	Q5XKC0;Q6ZVB1;E9PGI4;Q99767	.;.;.;APBA2_HUMAN	T	449;461;153	ENSP00000409312:A449T	ENSP00000219865:A461T	A	+	1	0	APBA2	27181136	1.000000	0.71417	0.606000	0.28943	0.985000	0.73830	9.352000	0.97076	2.365000	0.80145	0.655000	0.94253	GCC	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251362.3		+	ENST00000558402.1	Missense_Mutation	SNP	15 : 29393844 - 29393844 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	146	25
PFDN1	5201	broad.mit.edu	37	5	139661041	139661041	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139661041T>G	ENST00000261813.4	-	3	325	c.278A>C	c.(277-279)gAa>gCa	p.E93A	PFDN1_ENST00000514611.1_Intron|CYSTM1_ENST00000509789.2_Intron|PFDN1_ENST00000524074.1_Missense_Mutation_p.E93A|PFDN1_ENST00000510217.1_3'UTR	NM_002622.4	NP_002613.2	O60925	PFD1_HUMAN	prefoldin subunit 1	93					'de novo' posttranslational protein folding|cell cycle	prefoldin complex	sequence-specific DNA binding transcription factor activity|unfolded protein binding			endometrium(2)|large_intestine(3)|prostate(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTTCTAGTTCTTTAATTTT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	79	81			NA	NA	5		NA											NA				139661041		2202	4296	6498	SO:0001583	missense			Y17392	CCDS4222.1	5q31	2008-02-05	2006-02-24		ENSG00000113068	ENSG00000113068	5201	5201			8866	protein-coding gene	gene with protein product		604897	prefoldin 1		NA	9630229	Standard	NM_002622	XM_005268465	NA	Approved	PFD1	uc003lff.1	O60925	OTTHUMG00000129249	ENST00000261813.4:c.278A>C	5.37:g.139661041T>G	ENSP00000261813:p.Glu93Ala	NA	B2RD02|Q53F95|Q96EX6	37	CCDS4222.1	.	.	.	.	.	.	.	.	.	.	T	13.06	2.124391	0.37533	.	.	ENSG00000113068	ENST00000261813;ENST00000524074	T;T	0.45276	0.9;0.9	5.8	5.8	0.92144	Prefoldin beta-like (1);Prefoldin (1);	0.000000	0.85682	D	0.000000	T	0.32496	0.0831	L	0.37897	1.145	0.80722	D	1	B	0.17667	0.023	B	0.21151	0.033	T	0.13072	-1.0523	10	0.08837	T	0.75	-12.5849	14.3845	0.66934	0.0:0.0:0.0:1.0	.	93	O60925	PFD1_HUMAN	A	93	ENSP00000261813:E93A;ENSP00000428707:E93A	ENSP00000261813:E93A	E	-	2	0	PFDN1	139641225	1.000000	0.71417	0.993000	0.49108	0.948000	0.59901	5.285000	0.65633	2.221000	0.72209	0.528000	0.53228	GAA	PFDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251354.3		-	ENST00000261813.4	Missense_Mutation	SNP	5 : 139661041 - 139661041 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	175	38
FBXW10	10517	broad.mit.edu	37	17	18661780	18661780	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18661780A>C	ENST00000308799.4	+	6	1701	c.1482A>C	c.(1480-1482)gaA>gaC	p.E494D	FBXW10_ENST00000395667.1_Missense_Mutation_p.E465D|FBXW10_ENST00000301938.4_Missense_Mutation_p.E465D|FBXW10_ENST00000395665.4_Missense_Mutation_p.E465D			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	465										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GTGAGGAGGAAAACTTTCTCC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	29	30			NA	NA	17		NA											NA				18661780		2133	4136	6269	SO:0001583	missense			BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931	10517	10517		F-boxes / WD-40 domains, WD repeat domain containing	1211	protein-coding gene	gene with protein product		611679	chromosome 17 open reading frame 1A, F-box and WD-40 domain protein 10	C17orf1, C17orf1A	NA	9787083, 7586531	Standard	NM_031456	NM_001267585	NA	Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000308799.4:c.1482A>C	17.37:g.18661780A>C	ENSP00000310382:p.Glu494Asp	NA	C9JRY8|C9JZD7|Q8TC00|Q9H0F0	37		.	.	.	.	.	.	.	.	.	.	A	12.40	1.925282	0.34002	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.16324	2.35;2.35;2.35;2.35	3.21	0.813	0.18749	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.479158	0.20829	N	0.084938	T	0.06005	0.0156	N	0.05280	-0.08	0.19945	N	0.999943	B;B;B;B	0.20550	0.021;0.037;0.046;0.021	B;B;B;B	0.22601	0.013;0.024;0.04;0.013	T	0.39251	-0.9623	10	0.14252	T	0.57	.	4.199	0.10457	0.6564:0.2183:0.1253:0.0	.	465;494;465;465	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	D	465;494;465;465	ENSP00000379026:E465D;ENSP00000310382:E494D;ENSP00000306937:E465D;ENSP00000379025:E465D	ENSP00000306937:E465D	E	+	3	2	FBXW10	18602505	1.000000	0.71417	0.988000	0.46212	0.958000	0.62258	1.419000	0.34793	-0.044000	0.13491	0.333000	0.21579	GAA	FBXW10-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000130663.1		+	ENST00000308799.4	Missense_Mutation	SNP	17 : 18661780 - 18661780 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	443	59
ITSN2	50618	broad.mit.edu	37	2	24484038	24484038	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24484038C>T	ENST00000355123.4	-	22	3062	c.2619G>A	c.(2617-2619)tgG>tgA	p.W873*	ITSN2_ENST00000406921.3_Nonsense_Mutation_p.W873*|ITSN2_ENST00000361999.3_Nonsense_Mutation_p.W846*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	873					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTTTTTCTGCCATGATGTAT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	122	125			NA	NA	2		NA											NA				24484038		2203	4300	6503	SO:0001587	stop_gained			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399	50618	50618		Rho guanine nucleotide exchange factors, EF-hand domain containing	6184	protein-coding gene	gene with protein product	SH3 domain protein 1B, SH3P18-like WASP associated protein	604464	SH3 domain protein 1B	SH3D1B	NA	10922467, 11748279	Standard	NM_006277	NM_006277	NA	Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.2619G>A	2.37:g.24484038C>T	ENSP00000347244:p.Trp873*	NA	O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	37	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	42	9.288940	0.99127	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921	.	.	.	5.27	5.27	0.74061	.	0.000000	0.35870	U	0.002921	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	19.2658	0.93984	0.0:1.0:0.0:0.0	.	.	.	.	X	846;873;846;873	.	ENSP00000347244:W873X	W	-	3	0	ITSN2	24337542	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.841000	0.55850	2.650000	0.89964	0.555000	0.69702	TGG	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207620.2		-	ENST00000355123.4	Nonsense_Mutation	SNP	2 : 24484038 - 24484038 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	37
NAV1	89796	broad.mit.edu	37	1	201751924	201751924	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201751924G>T	ENST00000367302.1	+	8	2557	c.2323G>T	c.(2323-2325)Gaa>Taa	p.E775*	NAV1_ENST00000367297.4_Nonsense_Mutation_p.E762*|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367300.3_Nonsense_Mutation_p.E762*|NAV1_ENST00000367296.4_Nonsense_Mutation_p.E762*|NAV1_ENST00000367295.1_Nonsense_Mutation_p.E371*|NAV1_ENST00000295624.6_Nonsense_Mutation_p.E762*			Q8NEY1	NAV1_HUMAN	neuron navigator 1	762					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGGCTCCCCAGAAAGTACTCC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	43	43			NA	NA	1		NA											NA				201751924		2203	4300	6503	SO:0001587	stop_gained			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369	89796	89796			15989	protein-coding gene	gene with protein product	neuron navigator-1, pore membrane and/or filament interacting like protein 3	611628			NA	12079279, 12062803	Standard	NM_020443	NM_020443	NA	Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367302.1:c.2323G>T	1.37:g.201751924G>T	ENSP00000356271:p.Glu775*	NA	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	10.819315|10.819315	0.99472|0.99472	.|.	.|.	ENSG00000134369|ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000391966;ENST00000367295|ENST00000430015	.|.	.|.	.|.	5.47|5.47	4.56|4.56	0.56223|0.56223	.|.	0.177079|.	0.48286|.	D|.	0.000192|.	.|T	.|0.53916	.|0.1826	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63915	.|-0.6529	.|3	0.12103|.	T|.	0.63|.	-28.5937|-28.5937	10.0968|10.0968	0.42480|0.42480	0.1543:0.0:0.8457:0.0|0.1543:0.0:0.8457:0.0	.|.	.|.	.|.	.|.	X|I	775;762;762;762;762;270;371|319	.|.	ENSP00000295624:E762X|.	E|R	+|+	1|2	0|0	NAV1|NAV1	200018547|200018547	1.000000|1.000000	0.71417|0.71417	0.630000|0.630000	0.29268|0.29268	0.989000|0.989000	0.77384|0.77384	5.855000|5.855000	0.69510|0.69510	1.336000|1.336000	0.45506|0.45506	-0.218000|-0.218000	0.12543|0.12543	GAA|AGA	NAV1-006	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000087018.1		+	ENST00000367302.1	Nonsense_Mutation	SNP	1 : 201751924 - 201751924 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	388	86
PIGL	9487	broad.mit.edu	37	17	16120588	16120588	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16120588G>A	ENST00000395844.4	+	1	65	c.48G>A	c.(46-48)tgG>tgA	p.W16*	PIGL_ENST00000463810.1_3'UTR|PIGL_ENST00000498772.2_Nonsense_Mutation_p.W16*|PIGL_ENST00000225609.5_Nonsense_Mutation_p.W16*|PIGL_ENST00000581006.1_Nonsense_Mutation_p.W16*			Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L	NA					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		TCTTGGCATGGGGCTTCCTCT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	98	104			NA	NA	17		NA											NA				16120588		2203	4300	6503	SO:0001587	stop_gained			AB017165	CCDS11176.1	17p12-p11.2	2013-02-26	2006-06-28		ENSG00000108474	ENSG00000108474	9487	9487	3.5.1.89	Phosphatidylinositol glycan anchor biosynthesis	8966	protein-coding gene	gene with protein product	N-acetylglucosaminylphosphatidylinositol deacetylase	605947	phosphatidylinositol glycan, class L		NA	10085243	Standard		NM_004278	NA	Approved		uc002gpv.3	Q9Y2B2	OTTHUMG00000059346	ENST00000395844.4:c.48G>A	17.37:g.16120588G>A	ENSP00000379185:p.Trp16*	NA	A8KA67	37		.	.	.	.	.	.	.	.	.	.	G	16.97	3.270030	0.59540	.	.	ENSG00000108474	ENST00000225609;ENST00000395844	.	.	.	5.22	1.6	0.23607	.	0.885835	0.09977	N	0.731447	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	0.0087	8.2005	0.31421	0.0:0.3186:0.5178:0.1636	.	.	.	.	X	16	.	ENSP00000225609:W16X	W	+	3	0	PIGL	16061313	0.237000	0.23815	0.030000	0.17652	0.199000	0.23934	1.056000	0.30480	1.146000	0.42352	0.655000	0.94253	TGG	PIGL-005	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000131885.2		+	ENST00000395844.4	Nonsense_Mutation	SNP	17 : 16120588 - 16120588 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	357	58
HEATR5A	25938	broad.mit.edu	37	14	31819115	31819115	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31819115C>T	ENST00000543095.2	-	18	2772	c.2588G>A	c.(2587-2589)gGa>gAa	p.G863E	HEATR5A_ENST00000389961.3_Missense_Mutation_p.G857E|HEATR5A_ENST00000404677.3_Missense_Mutation_p.G863E|HEATR5A_ENST00000439727.1_Missense_Mutation_p.G570E|HEATR5A_ENST00000439348.1_Missense_Mutation_p.G857E	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	857							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TTCTAGGGCTCCCATAACTAA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	47	47			NA	NA	14		NA											NA				31819115		1879	4114	5993	SO:0001583	missense			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493	25938	25938			20276	protein-coding gene	gene with protein product			chromosome 14 open reading frame 125	C14orf125	NA		Standard	NM_015473	NM_015473	NA	Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000543095.2:c.2588G>A	14.37:g.31819115C>T	ENSP00000437968:p.Gly863Glu	NA	Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.50|18.50	3.637646|3.637646	0.67130|0.67130	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000538864|ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677	.|T;T;T;T;T	.|0.61859	.|0.07;0.07;0.07;0.07;0.07	5.48|5.48	5.48|5.48	0.80851|0.80851	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.119841	.|0.56097	.|D	.|0.000036	T|T	0.68302|0.68302	0.2986|0.2986	M|M	0.66939|0.66939	2.045|2.045	0.52099|0.52099	D|D	0.999948|0.999948	.|D;P;D	.|0.63046	.|0.992;0.516;0.975	.|P;B;P	.|0.55785	.|0.736;0.26;0.784	T|T	0.68849|0.68849	-0.5300|-0.5300	5|10	.|0.45353	.|T	.|0.12	.|.	14.9096|14.9096	0.70746|0.70746	0.0:0.8572:0.1428:0.0|0.0:0.8572:0.1428:0.0	.|.	.|863;857;857	.|B5MC49;Q86XA9-2;Q86XA9	.|.;.;HTR5A_HUMAN	K|E	491|857;857;570;863;863	.|ENSP00000374611:G857E;ENSP00000405407:G857E;ENSP00000408681:G570E;ENSP00000437968:G863E;ENSP00000384646:G863E	.|ENSP00000374611:G857E	E|G	-|-	1|2	0|0	HEATR5A|HEATR5A	30888866|30888866	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.596000|0.596000	0.36781|0.36781	3.660000|3.660000	0.54496|0.54496	2.587000|2.587000	0.87381|0.87381	0.655000|0.655000	0.94253|0.94253	GAG|GGA	HEATR5A-001	NOVEL	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000402061.3		-	ENST00000543095.2	Missense_Mutation	SNP	14 : 31819115 - 31819115 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	93	19
ZNF787	126208	broad.mit.edu	37	19	56614517	56614517	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56614517C>T	ENST00000270459.3	-	2	188	c.70G>A	c.(70-72)Gag>Aag	p.E24K	ZNF787_ENST00000587279.1_Missense_Mutation_p.E24K	NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CCTGGGTTCTCGTGACTGGCC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	53	50			NA	NA	19		NA											NA				56614517		1997	4167	6164	SO:0001583	missense			BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409	126208	126208		Zinc fingers, C2H2-type	26998	protein-coding gene	gene with protein product					NA		Standard	NM_001002836	NM_001002836	NA	Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.70G>A	19.37:g.56614517C>T	ENSP00000270459:p.Glu24Lys	NA	O00455	37	CCDS42634.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853109	0.51270	.	.	ENSG00000142409	ENST00000270459	T	0.06068	3.35	3.15	3.15	0.36227	.	.	.	.	.	T	0.06005	0.0156	N	0.08118	0	0.23936	N	0.99642	D	0.56521	0.976	P	0.50825	0.651	T	0.39375	-0.9617	9	0.54805	T	0.06	-32.3686	10.0497	0.42208	0.0:1.0:0.0:0.0	.	24	Q6DD87	ZN787_HUMAN	K	24	ENSP00000270459:E24K	ENSP00000270459:E24K	E	-	1	0	ZNF787	61306329	0.836000	0.29430	0.993000	0.49108	0.339000	0.28857	1.304000	0.33482	2.086000	0.62901	0.462000	0.41574	GAG	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457498.1		-	ENST00000270459.3	Missense_Mutation	SNP	19 : 56614517 - 56614517 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	281	55
ROR2	4920	broad.mit.edu	37	9	94486503	94486503	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:94486503G>A	ENST00000375708.3	-	9	2471	c.2273C>T	c.(2272-2274)tCg>tTg	p.S758L	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.S618L	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	758	Ser/Thr-rich.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGTCTGCGCCGAGCTGTTGTA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	54	53			NA	NA	9		NA											NA				94486503		2203	4300	6503	SO:0001583	missense			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071	4920	4920		Immunoglobulin superfamily / I-set domain containing	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1	NA	1334494, 10700182	Standard		NM_004560	NA	Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2273C>T	9.37:g.94486503G>A	ENSP00000364860:p.Ser758Leu	NA	Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	37	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291602	0.59976	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	T;T	0.78364	-1.15;-1.17	4.65	4.65	0.58169	.	0.000000	0.36338	N	0.002656	T	0.70789	0.3264	L	0.35854	1.095	0.80722	D	1	D;D	0.58970	0.978;0.984	B;B	0.41440	0.357;0.248	T	0.75388	-0.3335	10	0.49607	T	0.09	.	17.7513	0.88435	0.0:0.0:1.0:0.0	.	758;618	Q01974;B1APY4	ROR2_HUMAN;.	L	618;758	ENSP00000364867:S618L;ENSP00000364860:S758L	ENSP00000364860:S758L	S	-	2	0	ROR2	93526324	1.000000	0.71417	0.983000	0.44433	0.653000	0.38743	9.548000	0.98103	2.415000	0.81967	0.561000	0.74099	TCG	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053040.1		-	ENST00000375708.3	Missense_Mutation	SNP	9 : 94486503 - 94486503 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	497	78
YIPF3	25844	broad.mit.edu	37	6	43480841	43480841	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43480841G>A	ENST00000506469.1	-	6	783	c.650C>T	c.(649-651)gCc>gTc	p.A217V	YIPF3_ENST00000372422.2_Missense_Mutation_p.A211V			Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	211					cell differentiation	integral to membrane|plasma membrane|transport vesicle				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GGTGATCTGGGCGTTGCACAG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	124	124			NA	NA	6		NA											NA				43480841		2203	4300	6503	SO:0001583	missense			AK000946	CCDS4899.1	6p21.1	2009-10-06	2005-07-04	2005-07-04	ENSG00000137207	ENSG00000137207	25844	25844		Yip1 domain family	21023	protein-coding gene	gene with protein product		609775	chromosome 6 open reading frame 109	C6orf109	NA		Standard	NM_015388	NM_015388	NA	Approved	DKFZp566C243, KLIP1, dJ337H4.3, FinGER3	uc003ovl.2	Q9GZM5	OTTHUMG00000014738	ENST00000506469.1:c.650C>T	6.37:g.43480841G>A	ENSP00000425494:p.Ala217Val	NA	Q5JTD2|Q6FI85|Q8NI57|Q9NWE3|Q9Y3U9	37		.	.	.	.	.	.	.	.	.	.	G	18.29	3.590806	0.66219	.	.	ENSG00000137207	ENST00000372422;ENST00000504851;ENST00000506469	T;T	0.44482	0.92;0.92	5.62	4.75	0.60458	.	0.050002	0.85682	D	0.000000	T	0.26557	0.0649	L	0.43152	1.355	0.80722	D	1	P;B;P;B	0.42296	0.775;0.06;0.573;0.06	B;B;B;B	0.41412	0.356;0.028;0.14;0.028	T	0.04678	-1.0934	10	0.44086	T	0.13	-23.0835	13.9454	0.64082	0.0726:0.0:0.9274:0.0	.	160;217;176;211	D6RED8;E7EQR8;Q5JTD5;Q9GZM5	.;.;.;YIPF3_HUMAN	V	211;160;217	ENSP00000361499:A211V;ENSP00000425494:A217V	ENSP00000361499:A211V	A	-	2	0	YIPF3	43588819	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.669000	0.83911	2.653000	0.90120	0.655000	0.94253	GCC	YIPF3-012	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000358714.1		-	ENST00000506469.1	Missense_Mutation	SNP	6 : 43480841 - 43480841 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	824	21
ASB2	51676	broad.mit.edu	37	14	94417571	94417571	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94417571C>T	ENST00000555019.1	-	6	1084	c.654G>A	c.(652-654)gcG>gcA	p.A218A	ASB2_ENST00000556337.1_Intron|ASB2_ENST00000315988.4_Silent_p.A170A	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	170					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		TCACGGCCTCCGCGTTCTTGC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	56	59			NA	NA	14		NA											NA				94417571		2203	4300	6503	SO:0001819	synonymous_variant			AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25				51676	51676		Ankyrin repeat domain containing	16012	protein-coding gene	gene with protein product		605759	ankyrin repeat and SOCS box-containing 2		NA		Standard		NM_016150	NA	Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000555019.1:c.654G>A	14.37:g.94417571C>T		NA	B2RDP9|Q9NSU5|Q9Y567	37	CCDS55940.1																																																																																			ASB2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412844.1		-	ENST00000555019.1	Silent	SNP	14 : 94417571 - 94417571 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	346	64
PGLYRP4	57115	broad.mit.edu	37	1	153314114	153314114	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153314114C>A	ENST00000368739.3	-	6	960	c.602G>T	c.(601-603)aGc>aTc	p.S201I	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.S205I			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	205					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTTCTTCAGGCTTGTCTTCTG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	102	105			NA	NA	1		NA											NA				153314114		2203	4300	6503	SO:0001583	missense			AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218	57115	57115			30015	protein-coding gene	gene with protein product	peptidoglycan recognition protein I beta precursor	608198			NA	11461926	Standard	NM_020393	XR_241090	NA	Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000368739.3:c.602G>T	1.37:g.153314114C>A	ENSP00000357728:p.Ser201Ile	NA	A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	37		.	.	.	.	.	.	.	.	.	.	C	8.578	0.881545	0.17467	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.23552	1.9;1.9	4.2	-1.28	0.09318	N-acetylmuramoyl-L-alanine amidase domain (4);	0.745300	0.12522	N	0.461528	T	0.04182	0.0116	L	0.31926	0.97	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.16722	0.005;0.016	T	0.41052	-0.9530	10	0.21014	T	0.42	-38.0861	0.9165	0.01305	0.4022:0.2713:0.1759:0.1507	.	201;205	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	I	201;205	ENSP00000357728:S201I;ENSP00000352672:S205I	ENSP00000352672:S205I	S	-	2	0	PGLYRP4	151580738	0.000000	0.05858	0.000000	0.03702	0.120000	0.20174	-1.601000	0.02081	-0.042000	0.13535	0.591000	0.81541	AGC	PGLYRP4-002	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000089977.1		-	ENST00000368739.3	Missense_Mutation	SNP	1 : 153314114 - 153314114 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	716	106
FARP1	10160	broad.mit.edu	37	13	99061637	99061637	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:99061637C>T	ENST00000376586.2	+	14	1796	c.1460C>T	c.(1459-1461)tCg>tTg	p.S487L	FARP1_ENST00000595437.1_Missense_Mutation_p.S487L|FARP1_ENST00000319562.6_Missense_Mutation_p.S487L			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	487					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TCTGTGAACTCGCAGGGGGGA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	44	43	44		1460	5.5	1	13		44	0,8600		0,0,4300	no	missense	FARP1	NM_005766.2	145	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	possibly-damaging	487/1046	99061637	1,13005	2203	4300	6503	SO:0001583	missense			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767	10160	10160		Rho guanine nucleotide exchange factors, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Pleckstrin homology (PH) domain containing	3591	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 75	602654			NA	9425278	Standard	NM_005766	NM_005766	NA	Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000376586.2:c.1460C>T	13.37:g.99061637C>T	ENSP00000365771:p.Ser487Leu	NA	Q6IQ29	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.88|16.88	3.245831|3.245831	0.59103|0.59103	2.27E-4|2.27E-4	0.0|0.0	ENSG00000152767|ENSG00000152767	ENST00000457029|ENST00000376586;ENST00000376584;ENST00000319562	.|T;T	.|0.79749	.|-1.3;-1.11	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.208188	.|0.43260	.|D	.|0.000592	T|T	0.79633|0.79633	0.4479|0.4479	M|M	0.64997|0.64997	1.995|1.995	0.46542|0.46542	D|D	0.999091|0.999091	.|B;B	.|0.12630	.|0.004;0.006	.|B;B	.|0.09377	.|0.001;0.004	T|T	0.75648|0.75648	-0.3245|-0.3245	5|10	.|0.51188	.|T	.|0.08	.|.	17.5056|17.5056	0.87745|0.87745	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|487;487	.|Q9Y4F1;C9JME2	.|FARP1_HUMAN;.	C|L	16|487;192;487	.|ENSP00000365771:S487L;ENSP00000322926:S487L	.|ENSP00000322926:S487L	R|S	+|+	1|2	0|0	FARP1|FARP1	97859638|97859638	0.998000|0.998000	0.40836|0.40836	0.974000|0.974000	0.42286|0.42286	0.785000|0.785000	0.44390|0.44390	4.012000|4.012000	0.57131|0.57131	2.543000|2.543000	0.85770|0.85770	0.655000|0.655000	0.94253|0.94253	CGC|TCG	FARP1-201	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000462315.1		+	ENST00000376586.2	Missense_Mutation	SNP	13 : 99061637 - 99061637 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	420	97
WBP2NL	164684	broad.mit.edu	37	22	42416055	42416055	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42416055G>T	ENST00000328823.9	+	4	392	c.361G>T	c.(361-363)Gat>Tat	p.D121Y	WBP2NL_ENST00000543212.1_Missense_Mutation_p.D47Y	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	121			D -> G (in dbSNP:rs133335).		egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						CAGAAATGGAGATGCCATTGA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	142	142			NA	NA	22		NA											NA				42416055		2203	4300	6503	SO:0001583	missense			BC022546	CCDS14029.1	22q13.2	2007-07-18			ENSG00000183066	ENSG00000183066	164684	164684			28389	protein-coding gene	gene with protein product	postacrosomal sheath WW domain-binding protein	610981			NA	17289678	Standard	NM_152613	NM_152613	NA	Approved	FLJ26145, MGC26816, PAWP	uc003bbt.3	Q6ICG8	OTTHUMG00000151270	ENST00000328823.9:c.361G>T	22.37:g.42416055G>T	ENSP00000332983:p.Asp121Tyr	NA	A3KFF7|A8MSG5|B3KXX4|Q8TBF0|Q8TBF3	37	CCDS14029.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009860	0.54361	.	.	ENSG00000183066	ENST00000328823;ENST00000543212	T;T	0.30448	1.53;1.53	5.23	5.23	0.72850	WW-domain-binding protein (1);	0.000000	0.46442	D	0.000295	T	0.20170	0.0485	N	0.08118	0	0.27072	N	0.963301	B	0.16603	0.018	B	0.13407	0.009	T	0.24621	-1.0155	10	0.87932	D	0	-5.2897	17.7276	0.88369	0.0:0.0:1.0:0.0	.	121	Q6ICG8	WBP2L_HUMAN	Y	121;47	ENSP00000332983:D121Y;ENSP00000442447:D47Y	ENSP00000332983:D121Y	D	+	1	0	WBP2NL	40746001	1.000000	0.71417	1.000000	0.80357	0.092000	0.18411	7.021000	0.76425	2.719000	0.93026	0.655000	0.94253	GAT	WBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322037.1		+	ENST00000328823.9	Missense_Mutation	SNP	22 : 42416055 - 42416055 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	834	148
MUC2	4583	broad.mit.edu	37	11	1086426	1086426	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1086426C>T	ENST00000441003.2	+	23	3162	c.3135C>T	c.(3133-3135)tcC>tcT	p.S1045S	MUC2_ENST00000359061.5_Silent_p.S1045S	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1045	VWFD 3.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACCGCCGCTCCTGGGCCGAGA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	25	23			NA	NA	11		NA											NA				1086426		2094	4192	6286	SO:0001819	synonymous_variant			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788	4583	4583		Mucins	7512	protein-coding gene	gene with protein product		158370	mucin 2, intestinal/tracheal		NA	15081123	Standard	NM_002457	NM_002457	NA	Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.3135C>T	11.37:g.1086426C>T		NA	Q14878	37																																																																																				MUC2-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000345894.2		+	ENST00000441003.2	Silent	SNP	11 : 1086426 - 1086426 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	125	22
CRB1	23418	broad.mit.edu	37	1	197404736	197404736	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197404736T>G	ENST00000367399.2	+	7	3407	c.3407T>G	c.(3406-3408)tTt>tGt	p.F1136C	CRB1_ENST00000367400.3_Missense_Mutation_p.F1248C|CRB1_ENST00000535699.1_Missense_Mutation_p.F1224C|CRB1_ENST00000367397.1_Missense_Mutation_p.F629C|CRB1_ENST00000538660.1_Missense_Mutation_p.F712C|CRB1_ENST00000544212.1_Missense_Mutation_p.F729C	NM_001193640.1	NP_001180569.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1248	Laminin G-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACAGGAAAATTTTGCAGGTGA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	28	29			NA	NA	1		NA											NA				197404736		2200	4294	6494	SO:0001583	missense				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376	23418	23418			2343	protein-coding gene	gene with protein product		604210	crumbs (Drosophila) homolog 1, crumbs homolog 1 (Drosophila)	RP12	NA	10373321, 10508521	Standard	NM_201253	NM_201253	NA	Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367399.2:c.3407T>G	1.37:g.197404736T>G	ENSP00000356369:p.Phe1136Cys	NA	A2A308|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0	37	CCDS53454.1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.212885	0.58452	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	D;D;D;D;D;D	0.91631	-2.88;-2.1;-2.88;-2.88;-2.88;-2.88	5.19	4.04	0.47022	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.94258	0.8156	L	0.56769	1.78	0.33311	D	0.566073	D;D;D;D;D	0.89917	0.997;1.0;1.0;0.998;0.998	P;D;D;D;P	0.85130	0.817;0.961;0.997;0.911;0.872	D	0.94319	0.7552	9	0.39692	T	0.17	.	11.3341	0.49494	0.1362:0.0:0.0:0.8638	.	712;1224;1136;897;1248	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	C	1224;712;1248;1136;729;629;897	ENSP00000438786:F1224C;ENSP00000438091:F712C;ENSP00000356370:F1248C;ENSP00000356369:F1136C;ENSP00000444556:F729C;ENSP00000356367:F629C	ENSP00000356367:F629C	F	+	2	0	CRB1	195671359	0.948000	0.32251	0.967000	0.41034	0.975000	0.68041	4.295000	0.59049	0.787000	0.33731	0.528000	0.53228	TTT	CRB1-005	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280653.1		+	ENST00000367399.2	Missense_Mutation	SNP	1 : 197404736 - 197404736 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	98	13
KIAA0408	9729	broad.mit.edu	37	6	127771148	127771148	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127771148C>A	ENST00000483725.3	-	3	821	c.485G>T	c.(484-486)gGc>gTc	p.G162V	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	162							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		ACTGAGGGCGCCAGAACAGCT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	83	84			NA	NA	6		NA											NA				127771148		2203	4300	6503	SO:0001583	missense			AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367	9729	9729			21636	protein-coding gene	gene with protein product					NA		Standard	NM_014702	NM_014702	NA	Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.485G>T	6.37:g.127771148C>A	ENSP00000435150:p.Gly162Val	NA	B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	37	CCDS34531.1	.	.	.	.	.	.	.	.	.	.	C	8.839	0.941767	0.18281	.	.	ENSG00000189367	ENST00000483725;ENST00000487331	T;T	0.44083	1.51;0.93	5.71	2.4	0.29515	.	0.663988	0.11713	N	0.536664	T	0.14527	0.0351	L	0.39633	1.23	0.20074	N	0.999935	B	0.32203	0.36	B	0.32022	0.139	T	0.16012	-1.0417	10	0.39692	T	0.17	-0.3259	6.567	0.22517	0.2803:0.5805:0.0:0.1392	.	162	Q6ZU52	K0408_HUMAN	V	162;174	ENSP00000435150:G162V;ENSP00000434384:G174V	ENSP00000435150:G162V	G	-	2	0	KIAA0408	127812841	0.089000	0.21612	0.171000	0.22900	0.851000	0.48451	1.112000	0.31172	0.693000	0.31634	0.655000	0.94253	GGC	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042145.3		-	ENST00000483725.3	Missense_Mutation	SNP	6 : 127771148 - 127771148 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	475	91
C10orf120	399814	broad.mit.edu	37	10	124457595	124457595	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124457595T>A	ENST00000329446.4	-	3	693	c.662A>T	c.(661-663)gAt>gTt	p.D221V		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	221										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GTTGGCATCATCACAATTATG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	94	100			NA	NA	10		NA											NA				124457595		2203	4300	6503	SO:0001583	missense				CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559	399814	399814			25707	protein-coding gene	gene with protein product					NA		Standard	NM_001010912	NM_001010912	NA	Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.662A>T	10.37:g.124457595T>A	ENSP00000331012:p.Asp221Val	NA	B2RU17	37	CCDS31302.1	.	.	.	.	.	.	.	.	.	.	T	13.69	2.313421	0.40996	.	.	ENSG00000183559	ENST00000329446	T	0.35973	1.28	4.71	-2.4	0.06583	.	0.760985	0.11541	N	0.553777	T	0.24851	0.0603	L	0.40543	1.245	0.09310	N	0.999991	P	0.44044	0.825	B	0.43103	0.408	T	0.12142	-1.0559	10	0.36615	T	0.2	-2.5136	2.9532	0.05868	0.3016:0.2686:0.0:0.4298	.	221	Q5SQS8	CJ120_HUMAN	V	221	ENSP00000331012:D221V	ENSP00000331012:D221V	D	-	2	0	C10orf120	124447585	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.290000	0.02777	-0.525000	0.06391	-0.323000	0.08544	GAT	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050803.1		-	ENST00000329446.4	Missense_Mutation	SNP	10 : 124457595 - 124457595 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	47
GBP1	2633	broad.mit.edu	37	1	89525106	89525106	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89525106C>T	ENST00000370473.4	-	4	541	c.322G>A	c.(322-324)Gac>Aac	p.D108N		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	108					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TTCTGGTTGTCACCCTGGAAG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	120	125			NA	NA	1		NA											NA				89525106		2203	4298	6501	SO:0001583	missense			BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228	2633	2633			4182	protein-coding gene	gene with protein product		600411	guanylate binding protein 1, interferon-inducible, 67kDa		NA	7518790	Standard	NM_002053	NM_002053	NA	Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.322G>A	1.37:g.89525106C>T	ENSP00000359504:p.Asp108Asn	NA	D3DT26|Q5T8M1	37	CCDS718.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.680954	0.47886	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	T	0.75938	-0.98	4.6	1.65	0.23941	Guanylate-binding protein, N-terminal (1);	0.225904	0.42682	N	0.000670	T	0.49712	0.1573	L	0.52905	1.665	0.24793	N	0.992749	B	0.28713	0.22	B	0.32805	0.153	T	0.47446	-0.9117	10	0.46703	T	0.11	.	7.5495	0.27788	0.0:0.7053:0.0:0.2947	.	108	P32455	GBP1_HUMAN	N	108;71	ENSP00000359504:D108N	ENSP00000359504:D108N	D	-	1	0	GBP1	89297694	0.987000	0.35691	0.996000	0.52242	0.820000	0.46376	1.855000	0.39378	0.382000	0.24878	0.306000	0.20318	GAC	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029289.3		-	ENST00000370473.4	Missense_Mutation	SNP	1 : 89525106 - 89525106 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	500	46
SLITRK1	114798	broad.mit.edu	37	13	84454641	84454641	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:84454641G>T	ENST00000377084.2	-	1	1887	c.1002C>A	c.(1000-1002)ccC>ccA	p.P334P		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	334	LRRNT 2.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGTTAGCTAAGGGTTTGTTCC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	75	76			NA	NA	13		NA											NA				84454641		2203	4300	6503	SO:0001819	synonymous_variant			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235	114798	114798			20297	protein-coding gene	gene with protein product		609678	leucine rich repeat containing 12	LRRC12	NA	14557068, 12975309	Standard	NM_052910	NM_001281503	NA	Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1002C>A	13.37:g.84454641G>T		NA	Q5U5I6|Q96SF9	37	CCDS9464.1																																																																																			SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045396.1		-	ENST00000377084.2	Silent	SNP	13 : 84454641 - 84454641 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	462	67
HOXA3	3200	broad.mit.edu	37	7	27147792	27147792	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27147792T>C	ENST00000396352.4	-	3	1273	c.1074A>G	c.(1072-1074)ccA>ccG	p.P358P	HOXA3_ENST00000317201.2_Silent_p.P358P|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	358					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CCTGTATGTGTGGGGTCCCAT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(136;1368 1743 5685 7935 50360)							NA				0													25	22	23			NA	NA	7		NA											NA				27147792		2202	4298	6500	SO:0001819	synonymous_variant				CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997	3200	3200		Homeoboxes / ANTP class : HOXL subclass	5104	protein-coding gene	gene with protein product		142954	homeo box A3	HOX1E, HOX1	NA	1973146, 1358459	Standard		XM_005249730	NA	Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.1074A>G	7.37:g.27147792T>C		NA	A4D181	37	CCDS5404.1																																																																																			HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358708.2		-	ENST00000396352.4	Silent	SNP	7 : 27147792 - 27147792 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	172	34
SOGA1	140710	broad.mit.edu	37	20	35433281	35433281	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35433281C>T	ENST00000237536.4	-	10	3285	c.2944G>A	c.(2944-2946)Gcc>Acc	p.A982T	SOGA1_ENST00000456801.2_Missense_Mutation_p.A585T|SOGA1_ENST00000357779.3_Missense_Mutation_p.A744T|SOGA1_ENST00000279034.6_Missense_Mutation_p.A744T	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	744										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TTCATGTCGGCCAGTGTCTTG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	83	81			NA	NA	20		NA											NA				35433281		2123	4250	6373	SO:0001583	missense			AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639	140710	140710			16111	protein-coding gene	gene with protein product	suppressor of glucose by autophagy, suppressor of glucose from autophagy		chromosome 20 open reading frame 117, KIAA0889	C20orf117, KIAA0889	NA	20813965	Standard	NM_199181	NM_080627	NA	Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000237536.4:c.2944G>A	20.37:g.35433281C>T	ENSP00000237536:p.Ala982Thr	NA	A6NK10|Q14DB2|Q5JW51|Q6ZTG8	37	CCDS54459.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587554	0.66105	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.19394	2.15;2.16;2.17;2.17	4.79	4.79	0.61399	.	0.062096	0.64402	D	0.000005	T	0.17238	0.0414	L	0.34521	1.04	0.35213	D	0.775365	P	0.48089	0.905	P	0.45276	0.475	T	0.10567	-1.0624	10	0.17832	T	0.49	-16.1719	10.4312	0.44409	0.3055:0.6945:0.0:0.0	.	744	O94964-4	.	T	982;744;585;744	ENSP00000237536:A982T;ENSP00000279034:A744T;ENSP00000413886:A585T;ENSP00000350424:A744T	ENSP00000237536:A982T	A	-	1	0	KIAA0889	34866695	1.000000	0.71417	0.995000	0.50966	0.805000	0.45488	1.968000	0.40500	2.478000	0.83669	0.557000	0.71058	GCC	SOGA1-005	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276635.1		-	ENST00000237536.4	Missense_Mutation	SNP	20 : 35433281 - 35433281 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	275	24
HEPHL1	341208	broad.mit.edu	37	11	93826709	93826709	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93826709C>T	ENST00000315765.9	+	13	2345	c.2337C>T	c.(2335-2337)ggC>ggT	p.G779G		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	779	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATTGGATTGGCTCTCAGTACA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													190	184	186			NA	NA	11		NA											NA				93826709		1870	4116	5986	SO:0001819	synonymous_variant			BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333	341208	341208			30477	protein-coding gene	gene with protein product					NA		Standard	XM_291947	NM_001098672	NA	Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.2337C>T	11.37:g.93826709C>T		NA	Q3C1W7	37	CCDS44710.1																																																																																			HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396103.2		+	ENST00000315765.9	Silent	SNP	11 : 93826709 - 93826709 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	903	139
FAM65A	79567	broad.mit.edu	37	16	67578324	67578324	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67578324G>A	ENST00000540839.3	+	16	3000	c.2780G>A	c.(2779-2781)cGc>cAc	p.R927H	FAM65A_ENST00000379312.3_Missense_Mutation_p.R912H|FAM65A_ENST00000428437.2_Missense_Mutation_p.R922H|FAM65A_ENST00000422602.2_Missense_Mutation_p.R928H|FAM65A_ENST00000042381.4_Missense_Mutation_p.R908H			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	912						cytoplasm	binding	p.R908H(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CACTGCAGTCGCCTCCTGCTG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											90	82	85			NA	NA	16		NA											NA				67578324		2198	4300	6498	SO:0001583	missense			AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523	79567	79567			25836	protein-coding gene	gene with protein product					NA	11572484	Standard	NM_024519	NM_001193522	NA	Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000540839.3:c.2780G>A	16.37:g.67578324G>A	ENSP00000443568:p.Arg927His	NA	Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	37		.	.	.	.	.	.	.	.	.	.	G	11.49	1.654243	0.29425	.	.	ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	T;T;T	0.76448	-1.02;-1.02;-1.02	5.55	0.947	0.19555	.	0.690542	0.14688	N	0.304307	T	0.53706	0.1813	N	0.04090	-0.28	0.09310	N	1	B;B;B	0.19445	0.015;0.036;0.005	B;B;B	0.04013	0.001;0.001;0.001	T	0.37314	-0.9711	10	0.23891	T	0.37	-0.573	11.6031	0.51015	0.3702:0.0:0.6298:0.0	.	922;928;912	B4DIM2;E9PBS3;Q6ZS17	.;.;FA65A_HUMAN	H	912;908;928;922	ENSP00000368614:R912H;ENSP00000042381:R908H;ENSP00000400099:R928H	ENSP00000042381:R908H	R	+	2	0	FAM65A	66135825	0.000000	0.05858	0.979000	0.43373	0.997000	0.91878	-0.053000	0.11846	0.321000	0.23259	0.655000	0.94253	CGC	FAM65A-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000268867.2		+	ENST00000540839.3	Missense_Mutation	SNP	16 : 67578324 - 67578324 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	807	151
ZNF568	374900	broad.mit.edu	37	19	37441974	37441974	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37441974G>T	ENST00000415168.1	+	5	2103	c.1727G>T	c.(1726-1728)aGa>aTa	p.R576I	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.R640I|ZNF568_ENST00000427117.1_Intron	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	640					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACAGGTGAGAGACACCAAGTA	0.363		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	19		NA											NA				37441974		2075	4250	6325	SO:0001583	missense			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453	374900	374900		Zinc fingers, C2H2-type, -	25392	protein-coding gene	gene with protein product					NA		Standard	NM_198539	NM_198539	NA	Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000415168.1:c.1727G>T	19.37:g.37441974G>T	ENSP00000394514:p.Arg576Ile	NA	Q6N060|Q8NA64	37	CCDS56092.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.091834	0.36952	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	T;T	0.08720	3.06;3.06	4.24	0.513	0.17000	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.449576	0.16444	N	0.214196	T	0.08582	0.0213	M	0.63169	1.94	0.41248	D	0.986695	B	0.16166	0.016	B	0.17979	0.02	T	0.14200	-1.0481	10	0.87932	D	0	.	3.3648	0.07199	0.5667:0.206:0.2274:0.0	.	640	Q3ZCX4	ZN568_HUMAN	I	640;576	ENSP00000334685:R640I;ENSP00000394514:R576I	ENSP00000334685:R640I	R	+	2	0	ZNF568	42133814	0.565000	0.26610	0.082000	0.20525	0.234000	0.25298	0.960000	0.29253	0.274000	0.22072	-0.423000	0.05987	AGA	ZNF568-005	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000338316.2		+	ENST00000415168.1	Missense_Mutation	SNP	19 : 37441974 - 37441974 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	337	37
SLC38A8	146167	broad.mit.edu	37	16	84056428	84056428	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84056428C>T	ENST00000299709.3	-	6	756	c.757G>A	c.(757-759)Gtg>Atg	p.V253M		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	253					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGCACAGACACCAGGGCCCAG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	68	74			NA	NA	16		NA											NA				84056428		2200	4300	6500	SO:0001583	missense				CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558	146167	146167		Solute carriers	32434	protein-coding gene	gene with protein product		615585			NA		Standard	NM_001080442	XM_006721135	NA	Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.757G>A	16.37:g.84056428C>T	ENSP00000299709:p.Val253Met	NA		37	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141028	0.37825	.	.	ENSG00000166558	ENST00000299709	T	0.02682	4.2	5.37	3.36	0.38483	.	0.187239	0.46758	D	0.000261	T	0.14570	0.0352	M	0.80746	2.51	0.48571	D	0.999673	D	0.67145	0.996	D	0.67231	0.95	T	0.00553	-1.1674	10	0.72032	D	0.01	.	14.7349	0.69409	0.0:0.7244:0.2756:0.0	.	253	A6NNN8	S38A8_HUMAN	M	253	ENSP00000299709:V253M	ENSP00000299709:V253M	V	-	1	0	SLC38A8	82613929	1.000000	0.71417	0.996000	0.52242	0.043000	0.13939	1.445000	0.35079	0.602000	0.29896	-0.326000	0.08463	GTG	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432623.1		-	ENST00000299709.3	Missense_Mutation	SNP	16 : 84056428 - 84056428 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	252	23
PRMT6	55170	broad.mit.edu	37	1	107599623	107599623	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:107599623C>A	ENST00000370078.1	+	1	323	c.286C>A	c.(286-288)Ctg>Atg	p.L96M	PRMT6_ENST00000361318.5_Missense_Mutation_p.L37M			Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	96					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		CACCGGCATTCTGAGCATCTT	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	37	35			NA	NA	1		NA											NA				107599623		1992	4149	6141	SO:0001583	missense			AK001421	CCDS41360.1, CCDS41360.2	1p13.2	2008-02-05	2006-02-16	2006-02-16	ENSG00000198890	ENSG00000198890	55170	55170		Protein arginine methyltransferases	18241	protein-coding gene	gene with protein product		608274	HMT1 hnRNP methyltransferase-like 6 (S. cerevisiae)	HRMT1L6	NA	11724789	Standard	NM_018137	NM_018137	NA	Approved	FLJ10559	uc010ous.2	Q96LA8	OTTHUMG00000010964	ENST00000370078.1:c.286C>A	1.37:g.107599623C>A	ENSP00000359095:p.Leu96Met	NA	A3KME1|B4DID8|Q5T5Y5|Q6DKI4|Q9NVR8	37	CCDS41360.2	.	.	.	.	.	.	.	.	.	.	C	10.49	1.363843	0.24684	.	.	ENSG00000198890	ENST00000361318;ENST00000370078	T;T	0.63580	-0.05;-0.05	5.11	4.2	0.49525	.	0.000000	0.64402	D	0.000006	T	0.70736	0.3258	M	0.82630	2.6	0.09310	N	0.999997	D	0.71674	0.998	D	0.80764	0.994	T	0.65697	-0.6105	10	0.66056	D	0.02	-18.3037	11.3452	0.49556	0.0:0.9125:0.0:0.0875	.	96	Q96LA8	ANM6_HUMAN	M	37;96	ENSP00000355145:L37M;ENSP00000359095:L96M	ENSP00000355145:L37M	L	+	1	2	PRMT6	107401146	0.703000	0.27826	0.025000	0.17156	0.002000	0.02628	1.276000	0.33156	1.377000	0.46286	0.544000	0.68410	CTG	PRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000030185.1		+	ENST00000370078.1	Missense_Mutation	SNP	1 : 107599623 - 107599623 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	277	66
KRT82	3888	broad.mit.edu	37	12	52793859	52793859	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52793859G>A	ENST00000257974.2	-	5	929	c.852C>T	c.(850-852)gaC>gaT	p.D284D	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	284	Coil 2.|Rod.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		TGCCGTCCACGTCCAGCTCCC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	85	90			NA	NA	12		NA											NA				52793859		2203	4300	6503	SO:0001819	synonymous_variant			Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850	3888	3888		-, Intermediate filaments type II, keratins (basic)	6459	protein-coding gene	gene with protein product	hard keratin type II 2	601078	keratin, hair, basic, 2	KRTHB2	NA	2431943, 16831889	Standard	NM_033033	NM_033033	NA	Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.852C>T	12.37:g.52793859G>A		NA		37	CCDS8826.1																																																																																			KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405189.1		-	ENST00000257974.2	Silent	SNP	12 : 52793859 - 52793859 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	455	15
EPOR	2057	broad.mit.edu	37	19	11492759	11492759	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11492759G>A	ENST00000592375.2	-	3	378	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C	EPOR_ENST00000222139.6_Missense_Mutation_p.R92C			P19235	EPOR_HUMAN	erythropoietin receptor	92						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	TGGTGCAGGCGACACAGCTTC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	34	33			NA	NA	19		NA											NA				11492759		2203	4299	6502	SO:0001583	missense			M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266	2057	2057		Fibronectin type III domain containing	3416	protein-coding gene	gene with protein product		133171			NA		Standard		NM_000121	NA	Approved		uc002mrj.2	P19235		ENST00000592375.2:c.274C>T	19.37:g.11492759G>A	ENSP00000467809:p.Arg92Cys	NA	B2RCG4|Q15443|Q2M205	37		.	.	.	.	.	.	.	.	.	.	G	18.35	3.603898	0.66445	.	.	ENSG00000187266	ENST00000222139	D	0.83755	-1.76	3.65	-3.63	0.04529	Fibronectin, type III (1);Growth hormone/erythropoietin receptor, ligand binding (1);Immunoglobulin-like fold (1);	0.627053	0.15001	N	0.286114	T	0.75796	0.3898	L	0.47716	1.5	0.18873	N	0.999987	D	0.55172	0.97	P	0.46885	0.53	T	0.69518	-0.5124	10	0.54805	T	0.06	-15.8409	7.3652	0.26768	0.0:0.1431:0.2483:0.6086	.	92	P19235	EPOR_HUMAN	C	92	ENSP00000222139:R92C	ENSP00000222139:R92C	R	-	1	0	EPOR	11353759	0.009000	0.17119	0.181000	0.23098	0.421000	0.31385	0.161000	0.16481	-0.322000	0.08615	0.305000	0.20034	CGC	EPOR-005	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000458792.2		-	ENST00000592375.2	Missense_Mutation	SNP	19 : 11492759 - 11492759 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	62
BTN3A2	11118	broad.mit.edu	37	6	26370661	26370661	+	Missense_Mutation	SNP	C	C	A	rs147417438		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26370661C>A	ENST00000356386.2	+	5	733	c.545C>A	c.(544-546)gCc>gAc	p.A182D	BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000377708.2_Missense_Mutation_p.A182D|BTN3A2_ENST00000396948.1_Missense_Mutation_p.A182D|BTN3A2_ENST00000527422.1_Missense_Mutation_p.A182D|BTN3A2_ENST00000396934.3_Missense_Mutation_p.A159D|BTN3A2_ENST00000508906.2_Missense_Mutation_p.A140D	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	182			A -> T (in dbSNP:rs12205731).			integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						TGGAGCAACGCCAAGGGAGAG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ASP/ALA,ASP/ALA,ASP/ALA,ASP/ALA,ASP/ALA	1,4405	2.1+/-5.4	0,1,2202	132	118	122		545,545,476,419,545	-2.6	0	6	dbSNP_134	122	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	BTN3A2	NM_001197246.1,NM_001197247.1,NM_001197248.1,NM_001197249.1,NM_007047.3	126,126,126,126,126	0,2,6501	AA,AC,CC	NA	0.0116,0.0227,0.0154	benign,benign,benign,benign,benign	182/335,182/335,159/312,140/293,182/335	26370661	2,13004	2203	4300	6503	SO:0001583	missense			U90546	CCDS4605.1, CCDS56399.1, CCDS56400.1	6p22.1	2014-01-14			ENSG00000186470	ENSG00000186470	11118	11118		Immunoglobulin superfamily / V-set domain containing, Butyrophilins	1139	protein-coding gene	gene with protein product		613594			NA	9149941	Standard		NM_007047	NA	Approved	BTN3.2	uc010jqi.2	P78410	OTTHUMG00000014450	ENST00000356386.2:c.545C>A	6.37:g.26370661C>A	ENSP00000348751:p.Ala182Asp	NA	O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	37	CCDS4605.1	.	.	.	.	.	.	.	.	.	.	c	1.724	-0.495838	0.04291	2.27E-4	1.16E-4	ENSG00000186470	ENST00000532865;ENST00000535620;ENST00000527422;ENST00000356386;ENST00000396934;ENST00000377708;ENST00000396948;ENST00000508906	T;T;T;T;T;T;T	0.73152	-0.72;3.28;3.28;3.28;3.28;3.28;3.28	2.31	-2.56	0.06268	Immunoglobulin-like fold (1);	.	.	.	.	T	0.39118	0.1066	M	0.71036	2.16	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.29336	-1.0015	9	0.42905	T	0.14	.	0.2854	0.00250	0.2052:0.3016:0.2027:0.2904	.	159;182	F8W6E0;P78410	.;BT3A2_HUMAN	D	140;182;182;182;159;182;182;140	ENSP00000435952:A140D;ENSP00000432138:A182D;ENSP00000348751:A182D;ENSP00000380140:A159D;ENSP00000366937:A182D;ENSP00000380152:A182D;ENSP00000442687:A140D	ENSP00000348751:A182D	A	+	2	0	BTN3A2	26478640	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.692000	0.05127	-0.704000	0.05042	0.405000	0.27470	GCC	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040113.2		+	ENST00000356386.2	Missense_Mutation	SNP	6 : 26370661 - 26370661 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	537	76
PLXNA3	55558	broad.mit.edu	37	X	153698908	153698908	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153698908C>T	ENST00000369682.3	+	30	5285	c.5110C>T	c.(5110-5112)Cgc>Tgc	p.R1704C	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1704					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCGGACCAGCGCCAGATCAG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	80	83			NA	NA	X		NA											NA				153698908		2203	4300	6503	SO:0001583	missense			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827	55558	55558		Plexins	9101	protein-coding gene	gene with protein product		300022		PLXN4	NA	8248200, 8733135	Standard	NM_017514	NM_017514	NA	Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.5110C>T	X.37:g.153698908C>T	ENSP00000358696:p.Arg1704Cys	NA	Q5HY36	37	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911170	0.72983	.	.	ENSG00000130827	ENST00000369682	T	0.13089	2.62	5.21	5.21	0.72293	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.129791	0.50627	D	0.000109	T	0.25975	0.0633	L	0.48642	1.525	0.54753	D	0.999988	D	0.65815	0.995	P	0.62382	0.901	T	0.00824	-1.1551	10	0.87932	D	0	.	10.4064	0.44260	0.3212:0.6788:0.0:0.0	.	1704	P51805	PLXA3_HUMAN	C	1704	ENSP00000358696:R1704C	ENSP00000358696:R1704C	R	+	1	0	PLXNA3	153352102	1.000000	0.71417	0.996000	0.52242	0.937000	0.57800	2.293000	0.43558	2.156000	0.67533	0.529000	0.55759	CGC	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000081634.1		+	ENST00000369682.3	Missense_Mutation	SNP	X : 153698908 - 153698908 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	599	130
MBLAC2	153364	broad.mit.edu	37	5	89769706	89769706	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:89769706G>T	ENST00000316610.6	-	1	879	c.404C>A	c.(403-405)gCc>gAc	p.A135D	MBLAC2_ENST00000514906.1_Missense_Mutation_p.A135D	NM_203406.1	NP_981951	Q68D91	MBLC2_HUMAN	metallo-beta-lactamase domain containing 2	135							hydrolase activity|metal ion binding			kidney(1)|liver(1)|lung(3)	5						GAACTGTCTGGCCCTCCAGCC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	12	12			NA	NA	5		NA											NA				89769706		2186	4275	6461	SO:0001583	missense			BC038230	CCDS4067.1	5q14.3	2009-04-08	2009-04-08		ENSG00000176055	ENSG00000176055	153364	153364			33711	protein-coding gene	gene with protein product					NA		Standard	NM_203406	NM_203406	NA	Approved	DKFZp686P15118, MGC46734	uc003kjp.3	Q68D91	OTTHUMG00000131327	ENST00000316610.6:c.404C>A	5.37:g.89769706G>T	ENSP00000314776:p.Ala135Asp	NA	D6RJI1|Q8IY16|Q8N8D8	37	CCDS4067.1	.	.	.	.	.	.	.	.	.	.	G	33	5.240964	0.95272	.	.	ENSG00000176055;ENSG00000176055;ENSG00000259131;ENSG00000259131	ENST00000316610;ENST00000514906;ENST00000556122;ENST00000546270	T;T	0.42513	0.97;0.97	5.34	4.46	0.54185	Beta-lactamase-like (2);	0.047707	0.85682	N	0.000000	T	0.51753	0.1693	M	0.76328	2.33	0.80722	D	1	P	0.39311	0.667	P	0.45232	0.474	T	0.52895	-0.8514	10	0.37606	T	0.19	-12.2393	15.4054	0.74874	0.0:0.0:0.8598:0.1402	.	135	Q68D91	MBLC2_HUMAN	D	135;135;135;65	ENSP00000314776:A135D;ENSP00000425600:A135D	ENSP00000314776:A135D	A	-	2	0	AC093510.2;MBLAC2	89805462	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.142000	0.94618	1.222000	0.43521	0.563000	0.77884	GCC	MBLAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254098.2		-	ENST00000316610.6	Missense_Mutation	SNP	5 : 89769706 - 89769706 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	85	8
ARMCX5	64860	broad.mit.edu	37	X	101857782	101857782	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101857782G>A	ENST00000604957.1	+	1	3335	c.713G>A	c.(712-714)gGg>gAg	p.G238E	ARMCX5_ENST00000372742.1_Missense_Mutation_p.G238E|ARMCX5_ENST00000541409.1_Missense_Mutation_p.G238E|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000246174.2_Missense_Mutation_p.G238E|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000537008.1_Missense_Mutation_p.G238E|ARMCX5_ENST00000536530.1_Missense_Mutation_p.G238E	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	238							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						GTTGAAGGAGGGGAGCAATCC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	104	108			NA	NA	X		NA											NA				101857782		2203	4300	6503	SO:0001583	missense				CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962	64860	64860		Armadillo repeat containing	25772	protein-coding gene	gene with protein product					NA	16221301, 22569362	Standard	NM_022838	NM_022838	NA	Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.713G>A	X.37:g.101857782G>A	ENSP00000474720:p.Gly238Glu	NA	B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	37	CCDS14500.1	.	.	.	.	.	.	.	.	.	.	G	0.049	-1.255523	0.01457	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37	3.7	-0.383	0.12477	.	0.740477	0.11663	N	0.541642	T	0.05044	0.0135	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.38394	-0.9663	10	0.02654	T	1	-0.414	0.6024	0.00747	0.2441:0.1952:0.3703:0.1904	.	238	Q6P1M9	ARMX5_HUMAN	E	238	ENSP00000246174:G238E;ENSP00000439001:G238E;ENSP00000446385:G238E;ENSP00000445851:G238E;ENSP00000361827:G238E	ENSP00000246174:G238E	G	+	2	0	ARMCX5	101744438	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.077000	0.11394	-0.210000	0.10140	-0.912000	0.02778	GGG	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000469659.1		+	ENST00000604957.1	Missense_Mutation	SNP	X : 101857782 - 101857782 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	70
HLX	3142	broad.mit.edu	37	1	221057562	221057562	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:221057562G>A	ENST00000366903.6	+	4	2484	c.983G>A	c.(982-984)cGg>cAg	p.R328Q	HLX_ENST00000549319.1_Missense_Mutation_p.R114Q	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	328					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		CAGAACCGGCGGATGAAGTGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	43	41			NA	NA	1		NA											NA				221057562		2203	4296	6499	SO:0001583	missense			BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630	3142	3142		Homeoboxes / ANTP class : NKL subclass	4978	protein-coding gene	gene with protein product		142995	H2.0 (Drosophila)-like homeo box 1, H2.0-like homeobox 1 (Drosophila), H2.0-like homeobox 1	HLX1	NA	1676597, 7806220	Standard	NM_021958	NM_021958	NA	Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.983G>A	1.37:g.221057562G>A	ENSP00000355870:p.Arg328Gln	NA	B2R8A8|Q15988|Q59HE7|Q9NZ75	37	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	G	36	5.825551	0.96996	.	.	ENSG00000136630	ENST00000366903;ENST00000427693;ENST00000549319	D;D;D	0.99298	-5.48;-5.71;-5.48	4.9	4.9	0.64082	Homeobox, eukaryotic (1);Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.111005	0.36374	N	0.002634	D	0.99641	0.9868	H	0.97103	3.94	0.52099	D	0.999946	D	0.89917	1.0	D	0.97110	1.0	D	0.97532	1.0080	10	0.87932	D	0	-26.9734	17.218	0.86949	0.0:0.0:1.0:0.0	.	328	Q14774	HLX_HUMAN	Q	328;61;114	ENSP00000355870:R328Q;ENSP00000408248:R61Q;ENSP00000449882:R114Q	ENSP00000355870:R328Q	R	+	2	0	HLX	219124185	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	9.358000	0.97109	2.443000	0.82685	0.561000	0.74099	CGG	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090902.3		+	ENST00000366903.6	Missense_Mutation	SNP	1 : 221057562 - 221057562 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	84
THBS4	7060	broad.mit.edu	37	5	79373958	79373958	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79373958G>A	ENST00000511733.1	+	17	2240	c.1900G>A	c.(1900-1902)Gtc>Atc	p.V634I	CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000350881.2_Missense_Mutation_p.V725I|CTD-2201I18.1_ENST00000503007.1_RNA			P35443	TSP4_HUMAN	thrombospondin 4	725					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GAACGCAGAGGTCACCCTGAC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	79	86			NA	NA	5		NA											NA				79373958		2203	4300	6503	SO:0001583	missense				CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296	7060	7060			11788	protein-coding gene	gene with protein product		600715			NA	7852353	Standard		NM_003248	NA	Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000511733.1:c.1900G>A	5.37:g.79373958G>A	ENSP00000422298:p.Val634Ile	NA	B2R909|Q86TG2	37		.	.	.	.	.	.	.	.	.	.	G	5.167	0.216344	0.09810	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	D;D	0.98234	-4.81;-4.81	5.23	3.34	0.38264	.	0.181790	0.49305	N	0.000147	D	0.91680	0.7370	N	0.11756	0.17	0.31040	N	0.716376	B	0.02656	0.0	B	0.04013	0.001	D	0.83962	0.0322	10	0.02654	T	1	-21.7943	5.9809	0.19407	0.5442:0.0:0.4558:0.0	.	725	P35443	TSP4_HUMAN	I	725;634	ENSP00000339730:V725I;ENSP00000422298:V634I	ENSP00000339730:V725I	V	+	1	0	THBS4	79409714	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.753000	0.38359	0.780000	0.33566	0.655000	0.94253	GTC	THBS4-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000369577.1		+	ENST00000511733.1	Missense_Mutation	SNP	5 : 79373958 - 79373958 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	126	20
DNAH10	196385	broad.mit.edu	37	12	124274538	124274538	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124274538G>A	ENST00000409039.3	+	11	1527	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	501	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R501H(1)|p.R319H(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GACCCCAAGCGCATTGATGAT	0.463		NA											G	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	4e-04	0.95	EXOME	NA	NA	5e-04	SNP								NA				2	Substitution - Missense(2)	endometrium(2)											170	159	163			NA	NA	12		NA											NA				124274538		2203	4300	6503	SO:0001583	missense			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653	196385	196385		Axonemal dyneins	2941	protein-coding gene	gene with protein product		605884	dynein, axonemal, heavy polypeptide 10		NA		Standard		NM_207437	NA	Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.1502G>A	12.37:g.124274538G>A	ENSP00000386770:p.Arg501His	NA	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	37	CCDS9255.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.22	3.333288	0.60853	.	.	ENSG00000197653	ENST00000409039	T	0.55760	0.5	5.2	5.2	0.72013	Dynein heavy chain, domain-1 (1);	0.251815	0.27068	N	0.021095	T	0.65770	0.2723	M	0.73962	2.25	0.29940	N	0.821176	D	0.71674	0.998	P	0.57548	0.823	T	0.66952	-0.5793	10	0.45353	T	0.12	.	12.4417	0.55629	0.0809:0.0:0.9191:0.0	.	501	Q8IVF4	DYH10_HUMAN	H	501	ENSP00000386770:R501H	ENSP00000386770:R501H	R	+	2	0	DNAH10	122840491	1.000000	0.71417	1.000000	0.80357	0.516000	0.34256	4.281000	0.58965	2.446000	0.82766	0.555000	0.69702	CGC	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335420.3		+	ENST00000409039.3	Missense_Mutation	SNP	12 : 124274538 - 124274538 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	908	152
EPHA2	1969	broad.mit.edu	37	1	16464503	16464503	+	Missense_Mutation	SNP	G	G	A	rs141027815		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16464503G>A	ENST00000358432.5	-	5	1311	c.1157C>T	c.(1156-1158)tCg>tTg	p.S386L		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	386	Fibronectin type-III 1.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	AGGAGGCTCCGAGTAGCGCAC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	56	49	51		1157	5	1	1	dbSNP_134	51	0,8600		0,0,4300	no	missense	EPHA2	NM_004431.3	145	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	possibly-damaging	386/977	16464503	1,13005	2203	4300	6503	SO:0001583	missense			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	1969	1969	2.7.10.1	EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3386	protein-coding gene	gene with protein product		176946	EphA2	ECK	NA	9119409	Standard	NM_004431	NM_004431	NA	Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1157C>T	1.37:g.16464503G>A	ENSP00000351209:p.Ser386Leu	NA	Q8N3Z2	37	CCDS169.1	.	.	.	.	.	.	.	.	.	.	G	5.047	0.194330	0.09599	2.27E-4	0.0	ENSG00000142627	ENST00000358432	T	0.58940	0.3	4.97	4.97	0.65823	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.143571	0.32473	N	0.006045	T	0.46171	0.1379	L	0.37697	1.125	0.47441	D	0.999424	P;P	0.50819	0.939;0.699	B;B	0.39840	0.311;0.055	T	0.40136	-0.9579	10	0.20046	T	0.44	.	16.1088	0.81244	0.0:0.0:1.0:0.0	.	386;386	B5A968;P29317	.;EPHA2_HUMAN	L	386	ENSP00000351209:S386L	ENSP00000351209:S386L	S	-	2	0	EPHA2	16337090	0.985000	0.35326	0.959000	0.39883	0.015000	0.08874	2.177000	0.42509	2.488000	0.83962	0.561000	0.74099	TCG	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026322.1		-	ENST00000358432.5	Missense_Mutation	SNP	1 : 16464503 - 16464503 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	167	31
PDE5A	8654	broad.mit.edu	37	4	120446754	120446754	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120446754G>A	ENST00000354960.3	-	12	2048	c.1729C>T	c.(1729-1731)Cgg>Tgg	p.R577W	PDE5A_ENST00000394439.1_Missense_Mutation_p.R525W|RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000512739.1_5'UTR|PDE5A_ENST00000264805.5_Missense_Mutation_p.R535W	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	577					platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	p.R577W(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	GTAAACATCCGAATTGTACAC	0.448		NA											G	2	9e-04	NA	0.0028	2184	0.0017	1	,	,	NA	2e-04	NA	NA	NA	9e-04	0.9756	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				1	Substitution - Missense(1)	large_intestine(1)											126	118	121			NA	NA	4		NA											NA				120446754		2203	4300	6503	SO:0001583	missense			D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	8654	8654	3.1.4.17	Phosphodiesterases	8784	protein-coding gene	gene with protein product		603310			NA	9714779, 9642111	Standard	NM_001083	NM_033437	NA	Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1729C>T	4.37:g.120446754G>A	ENSP00000347046:p.Arg577Trp	NA	A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	37	CCDS3713.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	G	18.97	3.734815	0.69189	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	T;T;T	0.50277	0.75;0.75;0.75	5.06	4.21	0.49690	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.115584	0.64402	D	0.000010	T	0.72961	0.3526	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.77991	-0.2379	10	0.72032	D	0.01	.	17.7073	0.88312	0.0:0.0:0.8745:0.1255	.	577;535	O76074;O76074-2	PDE5A_HUMAN;.	W	577;525;535	ENSP00000347046:R577W;ENSP00000377957:R525W;ENSP00000264805:R535W	ENSP00000264805:R535W	R	-	1	2	PDE5A	120666202	1.000000	0.71417	0.991000	0.47740	0.884000	0.51177	8.023000	0.88764	0.543000	0.28864	-0.808000	0.03180	CGG	PDE5A-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256529.1		-	ENST00000354960.3	Missense_Mutation	SNP	4 : 120446754 - 120446754 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	363	58
JAK3	3718	broad.mit.edu	37	19	17945947	17945947	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17945947C>T	ENST00000527670.1	-	14	2021	c.1992G>A	c.(1990-1992)ccG>ccA	p.P664P	JAK3_ENST00000458235.1_Silent_p.P664P|JAK3_ENST00000534444.1_Silent_p.P664P			P52333	JAK3_HUMAN	Janus kinase 3	664	Protein kinase 1.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						TGATGAAGGGCGGGCTCCCAT	0.637		2	Mis		acute megakaryocytic leukemia, ETP ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0								C		0,4406		0,0,2203	49	48	48		1992	-9.8	0.1	19		48	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	JAK3	NM_000215.3		0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077		664/1125	17945947	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	3718	3718	2.7.10.1		6193	protein-coding gene	gene with protein product	tyrosine-protein kinase JAK3, leukocyte Janus kinase	600173			NA	8921370, 9226382	Standard	NM_000215	NM_000215	NA	Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1992G>A	19.37:g.17945947C>T		NA	Q13259|Q13260|Q13611|Q99699|Q9Y6S2	37	CCDS12366.1																																																																																			JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385549.1		-	ENST00000527670.1	Silent	SNP	19 : 17945947 - 17945947 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	415	68
MSLNL	401827	broad.mit.edu	37	16	820164	820164	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:820164C>T	ENST00000293892.3	-	15	2820	c.2821G>A	c.(2821-2823)Ggc>Agc	p.G941S	MSLNL_ENST00000442466.1_Missense_Mutation_p.G590S			Q96KJ4	MSLNL_HUMAN	mesothelin-like	590					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GCGTCCAGGCCGAGCTGGCCC	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0									SER/GLY	0,4314		0,0,2157	11	13	13		2821	3.5	0.9	16		13	1,8523		0,1,4261	no	missense	MSLNL	NM_001025190.1	56	0,1,6418	TT,TC,CC	NA	0.0117,0.0,0.0078	possibly-damaging	941/1054	820164	1,12837	2157	4262	6419	SO:0001583	missense					16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006	401827	401827			14170	protein-coding gene	gene with protein product			chromosome 16 open reading frame 37	C16orf37	NA		Standard	NM_001025190	NG_032123	NA	Approved	MPFL		Q96KJ4		ENST00000293892.3:c.2821G>A	16.37:g.820164C>T	ENSP00000293892:p.Gly941Ser	NA		37		.	.	.	.	.	.	.	.	.	.	c	15.92	2.974818	0.53720	0.0	1.17E-4	ENSG00000162006	ENST00000543963;ENST00000442466;ENST00000293892	T;T;T	0.22336	1.96;1.96;1.96	4.44	3.48	0.39840	.	0.147080	0.45126	D	0.000392	T	0.16514	0.0397	.	.	.	0.31954	N	0.609335	P	0.40050	0.7	B	0.36378	0.223	T	0.15694	-1.0428	9	0.54805	T	0.06	-41.6552	10.5908	0.45308	0.0:0.8045:0.1955:0.0	.	590	Q96KJ4	MSLNL_HUMAN	S	640;590;941	ENSP00000441381:G640S;ENSP00000415767:G590S;ENSP00000293892:G941S	ENSP00000293892:G941S	G	-	1	0	MSLNL	760165	0.988000	0.35896	0.930000	0.37139	0.005000	0.04900	0.643000	0.24750	1.215000	0.43411	0.537000	0.68136	GGC	MSLNL-201	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding			-	ENST00000293892.3	Missense_Mutation	SNP	16 : 820164 - 820164 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	99	7
STRIP1	85369	broad.mit.edu	37	1	110584457	110584457	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110584457C>A	ENST00000369795.3	+	8	881	c.859C>A	c.(859-861)Ctc>Atc	p.L287I	STRIP1_ENST00000369796.1_Missense_Mutation_p.L192I	NM_033088.3	NP_149079.2			striatin interacting protein 1	NA											NA						GAAGAAAGTTCTCTTGCTGCT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													199	186	191			NA	NA	1		NA											NA				110584457		2203	4300	6503	SO:0001583	missense			AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093	85369	85369			25916	protein-coding gene	gene with protein product	FAR11 factor arrest 11 homolog A (yeast)		family with sequence similarity 40, member A	FAM40A	NA	11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088	NM_033088	NA	Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.859C>A	1.37:g.110584457C>A	ENSP00000358810:p.Leu287Ile	NA		37	CCDS30798.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158725	0.78226	.	.	ENSG00000143093	ENST00000369796;ENST00000369795	T;T	0.57907	0.37;0.37	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.68485	0.3006	M	0.89601	3.045	0.80722	D	1	D;D	0.64830	0.994;0.991	D;D	0.66196	0.928;0.942	T	0.68538	-0.5382	10	0.23302	T	0.38	-21.4477	14.4562	0.67418	0.0:0.9301:0.0:0.0699	.	192;287	Q5VSL9-2;Q5VSL9	.;FA40A_HUMAN	I	192;287	ENSP00000358811:L192I;ENSP00000358810:L287I	ENSP00000358810:L287I	L	+	1	0	FAM40A	110385980	0.844000	0.29557	1.000000	0.80357	0.999000	0.98932	1.430000	0.34914	2.791000	0.96007	0.655000	0.94253	CTC	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032213.1		+	ENST00000369795.3	Missense_Mutation	SNP	1 : 110584457 - 110584457 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	840	204
ASF1B	55723	broad.mit.edu	37	19	14231410	14231410	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14231410A>G	ENST00000263382.3	-	4	969	c.470T>C	c.(469-471)aTg>aCg	p.M157T	ASF1B_ENST00000592798.1_Missense_Mutation_p.M98T	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B histone chaperone	157					cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						CAGCCTGTCCATGTTGTTGTC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	65	68			NA	NA	19		NA											NA				14231410		2203	4300	6503	SO:0001583	missense			AF279307	CCDS12306.1	19p13.12	2013-05-01	2013-05-01		ENSG00000105011	ENSG00000105011	55723	55723			20996	protein-coding gene	gene with protein product		609190	ASF1 anti-silencing function 1 homolog B (S. cerevisiae)		NA	11897662, 11470414	Standard	NM_018154	NM_018154	NA	Approved	FLJ10604	uc002mye.3	Q9NVP2	OTTHUMG00000150401	ENST00000263382.3:c.470T>C	19.37:g.14231410A>G	ENSP00000263382:p.Met157Thr	NA	Q53G51|Q9NVZ0	37	CCDS12306.1	.	.	.	.	.	.	.	.	.	.	a	0.383	-0.927845	0.02377	.	.	ENSG00000105011	ENST00000263382	.	.	.	5.8	-3.06	0.05379	.	1.694630	0.02767	N	0.119296	T	0.13970	0.0338	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17592	-1.0364	9	0.06757	T	0.87	.	4.5182	0.11947	0.4499:0.0:0.3051:0.245	.	157	Q9NVP2	ASF1B_HUMAN	T	157	.	ENSP00000263382:M157T	M	-	2	0	ASF1B	14092410	0.000000	0.05858	0.000000	0.03702	0.904000	0.53231	0.439000	0.21575	-0.706000	0.05028	-0.783000	0.03347	ATG	ASF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317946.1		-	ENST00000263382.3	Missense_Mutation	SNP	19 : 14231410 - 14231410 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	43
EPHB2	2048	broad.mit.edu	37	1	23240353	23240353	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23240353G>A	ENST00000400191.3	+	17	3176	c.3158G>A	c.(3157-3159)tGc>tAc	p.C1053Y	EPHB2_ENST00000374632.3_3'UTR	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	1053					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GACTGTTCTTGCGGGGGATAA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	37	36			NA	NA	1		NA											NA				23240353		1568	3582	5150	SO:0001583	missense			AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2048	2048	2.7.10.1	EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3393	protein-coding gene	gene with protein product		600997	EphB2	DRT, ERK, EPHT3	NA	1648701	Standard	NM_017449	NM_017449	NA	Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.3158G>A	1.37:g.23240353G>A	ENSP00000383053:p.Cys1053Tyr	NA	O43477|Q5T0U6|Q5T0U7|Q5T0U8	37		.	.	.	.	.	.	.	.	.	.	G	1.321	-0.599461	0.03744	.	.	ENSG00000133216	ENST00000400191	T	0.73681	-0.77	0.688	-0.403	0.12400	.	.	.	.	.	T	0.68659	0.3025	.	.	.	0.41567	D	0.988662	P	0.39520	0.676	B	0.42343	0.384	T	0.65557	-0.6139	7	0.87932	D	0	.	.	.	.	.	1053	P29323	EPHB2_HUMAN	Y	1053	ENSP00000383053:C1053Y	ENSP00000383053:C1053Y	C	+	2	0	EPHB2	23112940	0.964000	0.33143	0.535000	0.28026	0.496000	0.33645	1.743000	0.38258	-0.191000	0.10448	0.400000	0.26472	TGC	EPHB2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000008060.2		+	ENST00000400191.3	Missense_Mutation	SNP	1 : 23240353 - 23240353 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	63	7
ST5	6764	broad.mit.edu	37	11	8737215	8737215	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8737215T>C	ENST00000526099.1	-	3	421	c.319A>G	c.(319-321)Aat>Gat	p.N107D	ST5_ENST00000530991.1_Missense_Mutation_p.N66D|ST5_ENST00000357665.1_Missense_Mutation_p.N594D|ST5_ENST00000534127.1_Missense_Mutation_p.N594D|ST5_ENST00000526757.1_Missense_Mutation_p.N174D|ST5_ENST00000530438.1_Missense_Mutation_p.N174D|ST5_ENST00000313726.6_Missense_Mutation_p.N594D			P78524	ST5_HUMAN	suppression of tumorigenicity 5	594					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CTGTCTTCATTGAGGCTGGAG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	65	67			NA	NA	11		NA											NA				8737215		2201	4296	6497	SO:0001583	missense			U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444	6764	6764		DENN/MADD domain containing	11350	protein-coding gene	gene with protein product	DENN/MADD domain containing 2B	140750			NA	1390339	Standard	NM_005418	NM_005418	NA	Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000526099.1:c.319A>G	11.37:g.8737215T>C	ENSP00000436808:p.Asn107Asp	NA	B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	37		.	.	.	.	.	.	.	.	.	.	T	15.98	2.993474	0.54041	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000530438;ENST00000533020;ENST00000447053;ENST00000530593;ENST00000528527;ENST00000531060	T;T;T;T;T;T;T;T;T;T;T	0.09911	2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93	5.54	3.07	0.35406	.	0.278897	0.37136	N	0.002223	T	0.10895	0.0266	L	0.44542	1.39	0.09310	N	1	B;P;P	0.41748	0.411;0.551;0.761	B;B;B	0.40565	0.145;0.333;0.247	T	0.09907	-1.0653	10	0.33940	T	0.23	-9.1996	12.045	0.53475	0.0:0.0:0.2738:0.7262	.	107;174;594	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	D	174;594;594;66;594;107;174;66;204;66;66;83	ENSP00000435097:N174D;ENSP00000433528:N594D;ENSP00000319678:N594D;ENSP00000432887:N66D;ENSP00000350294:N594D;ENSP00000436808:N107D;ENSP00000436802:N174D;ENSP00000433588:N66D;ENSP00000437096:N66D;ENSP00000431580:N66D;ENSP00000433858:N83D	ENSP00000319678:N594D	N	-	1	0	ST5	8693791	1.000000	0.71417	0.972000	0.41901	0.997000	0.91878	1.873000	0.39558	0.330000	0.23485	0.533000	0.62120	AAT	ST5-009	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000386522.1		-	ENST00000526099.1	Missense_Mutation	SNP	11 : 8737215 - 8737215 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	582	112
LNP1	348801	broad.mit.edu	37	3	100170652	100170652	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100170652A>G	ENST00000383693.3	+	3	1526	c.246A>G	c.(244-246)gtA>gtG	p.V82V	LNP1_ENST00000489752.1_Silent_p.V95V	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	82										cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GTAGCCACGTACGGGATTACA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	92	95			NA	NA	3		NA											NA				100170652		1876	4094	5970	SO:0001819	synonymous_variant				CCDS43120.1	3q12.2	2014-05-12			ENSG00000206535	ENSG00000206535	348801	348801			28014	protein-coding gene	gene with protein product					NA	16467868	Standard		NM_001085451	NA	Approved	NP3	uc003dtx.4	A1A4G5	OTTHUMG00000159082	ENST00000383693.3:c.246A>G	3.37:g.100170652A>G		NA	B7ZLT3	37	CCDS43120.1																																																																																			LNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353232.1		+	ENST00000383693.3	Silent	SNP	3 : 100170652 - 100170652 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	407	78
GBX2	2637	broad.mit.edu	37	2	237075079	237075079	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237075079G>A	ENST00000306318.4	-	2	922	c.525C>T	c.(523-525)gtC>gtT	p.V175V	GBX2_ENST00000551105.1_Splice_Site_p.R188W|GBX2_ENST00000465889.1_5'UTR	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	175				LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241).		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GGACAGCCCCGACTGAAAGCA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	96	93			NA	NA	2		NA											NA				237075079		2203	4300	6503	SO:0001630	splice_region_variant			AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505	2637	2637		Homeoboxes / ANTP class : HOXL subclass	4186	protein-coding gene	gene with protein product		601135	gastrulation brain homeo box 2		NA	9346236, 8838315	Standard	NM_001485	XM_005246071	NA	Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.524-1C>T	2.37:g.237075079G>A		NA	B2RPH7|O43833|Q53RX5|Q9Y5Y1	37	CCDS2515.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.965486	0.34659	.	.	ENSG00000168505	ENST00000551105	.	.	.	4.39	1.17	0.20885	.	.	.	.	.	T	0.34803	0.0910	.	.	.	0.21220	N	0.999758	D	0.63880	0.993	P	0.44561	0.453	T	0.22312	-1.0220	7	0.87932	D	0	.	10.9983	0.47589	0.0:0.3533:0.5302:0.1165	.	188	F8VY47	.	W	188	.	ENSP00000448747:R188W	R	-	1	2	GBX2	236739818	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	0.408000	0.21065	0.302000	0.22762	-0.467000	0.05162	CGG	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257078.3	Silent	-	ENST00000306318.4	Splice_Site	SNP	2 : 237075079 - 237075079 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	807	27
PRSS23	11098	broad.mit.edu	37	11	86518792	86518792	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:86518792G>A	ENST00000280258.5	+	2	532	c.107G>A	c.(106-108)cGc>cAc	p.R36H	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.R36H	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	36					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCTGCATACCGCCTCCCTGTC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	110	111			NA	NA	11		NA											NA				86518792		2201	4299	6500	SO:0001583	missense			AF015287	CCDS8278.1	11q14.2	2010-05-12			ENSG00000150687	ENSG00000150687	11098	11098		Serine peptidases / Serine peptidases	14370	protein-coding gene	gene with protein product					NA		Standard	NM_007173	XM_005273727	NA	Approved	SPUVE, SIG13	uc001pcb.3	O95084		ENST00000280258.5:c.107G>A	11.37:g.86518792G>A	ENSP00000280258:p.Arg36His	NA	B2RDJ1|Q6IBI0	37	CCDS8278.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420746	0.62622	.	.	ENSG00000150687	ENST00000527521;ENST00000280258;ENST00000441050	.	.	.	5.8	3.95	0.45737	.	0.057555	0.64402	D	0.000002	T	0.45617	0.1351	L	0.44542	1.39	0.42263	D	0.992025	B;B	0.12013	0.005;0.005	B;B	0.09377	0.004;0.004	T	0.29336	-1.0015	8	.	.	.	-11.6981	9.5078	0.39058	0.2122:0.0:0.7878:0.0	.	36;36	B4E2J3;O95084	.;PRS23_HUMAN	H	36	.	.	R	+	2	0	PRSS23	86196440	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	2.761000	0.47589	0.817000	0.34445	-0.136000	0.14681	CGC	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393805.2		+	ENST00000280258.5	Missense_Mutation	SNP	11 : 86518792 - 86518792 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	578	69
C3AR1	719	broad.mit.edu	37	12	8211461	8211461	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8211461C>A	ENST00000307637.4	-	2	1524	c.1321G>T	c.(1321-1323)Gat>Tat	p.D441Y		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	441					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TTCCTAAAATCTTTCCCCAAG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	85	88			NA	NA	12		NA											NA				8211461		2203	4300	6503	SO:0001583	missense			U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860	719	719		Complement system, GPCR / Class A : Complement component receptors	1319	protein-coding gene	gene with protein product		605246			NA	8605247	Standard		NM_004054	NA	Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.1321G>T	12.37:g.8211461C>A	ENSP00000302079:p.Asp441Tyr	NA	O43771|Q92868	37	CCDS8588.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.525039	0.85600	.	.	ENSG00000171860	ENST00000307637	T	0.40476	1.03	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000003	T	0.66973	0.2844	M	0.83223	2.63	0.54753	D	0.999982	D	0.89917	1.0	D	0.69307	0.963	T	0.71567	-0.4554	10	0.87932	D	0	.	16.4145	0.83729	0.0:1.0:0.0:0.0	.	441	Q16581	C3AR_HUMAN	Y	441	ENSP00000302079:D441Y	ENSP00000302079:D441Y	D	-	1	0	C3AR1	8102728	0.983000	0.35010	1.000000	0.80357	0.998000	0.95712	2.075000	0.41538	2.746000	0.94184	0.655000	0.94253	GAT	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400254.1		-	ENST00000307637.4	Missense_Mutation	SNP	12 : 8211461 - 8211461 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	460	63
PDE4A	5141	broad.mit.edu	37	19	10572664	10572664	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10572664G>A	ENST00000352831.6	+	13	1842	c.1732G>A	c.(1732-1734)Gac>Aac	p.D578N	PDE4A_ENST00000440014.2_Missense_Mutation_p.D517N|PDE4A_ENST00000344979.3_Missense_Mutation_p.D339N|PDE4A_ENST00000380702.2_Missense_Mutation_p.D556N|PDE4A_ENST00000592685.1_Missense_Mutation_p.D556N|PDE4A_ENST00000293683.5_Missense_Mutation_p.D552N	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	578	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	TAACTACTCCGACCGCATCCA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	103	112			NA	NA	19		NA											NA				10572664		2203	4300	6503	SO:0001583	missense				CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	5141	5141	3.1.4.17	Phosphodiesterases	8780	protein-coding gene	gene with protein product	phosphodiesterase E2 dunce homolog (Drosophila)	600126	phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)	DPDE2	NA	8009369	Standard		NM_006202	NA	Approved		uc002moj.2	P27815		ENST00000352831.6:c.1732G>A	19.37:g.10572664G>A	ENSP00000270474:p.Asp578Asn	NA	O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	37	CCDS45961.1	.	.	.	.	.	.	.	.	.	.	G	33	5.271568	0.95429	.	.	ENSG00000065989	ENST00000419866;ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979;ENST00000380686	T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63	4.49	4.49	0.54785	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	T	0.81113	0.4755	M	0.62016	1.91	0.80722	D	1	P;D;D;D;D	0.89917	0.865;1.0;1.0;1.0;1.0	B;D;D;D;D	0.80764	0.268;0.979;0.994;0.986;0.992	T	0.81560	-0.0877	10	0.45353	T	0.12	.	14.6592	0.68858	0.0:0.0:1.0:0.0	.	244;339;517;552;578	P27815-5;P27815-4;P27815-6;P27815-2;P27815	.;.;.;.;PDE4A_HUMAN	N	20;556;578;552;517;339;244	ENSP00000370078:D556N;ENSP00000270474:D578N;ENSP00000293683:D552N;ENSP00000394754:D517N;ENSP00000341007:D339N	ENSP00000293683:D552N	D	+	1	0	PDE4A	10433664	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.697000	0.98697	2.062000	0.61559	0.484000	0.47621	GAC	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451244.1		+	ENST00000352831.6	Missense_Mutation	SNP	19 : 10572664 - 10572664 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	629	84
ACAP2	23527	broad.mit.edu	37	3	195022900	195022900	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195022900G>A	ENST00000326793.6	-	14	1350	c.1120C>T	c.(1120-1122)Ctg>Ttg	p.L374L		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	374					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TTCTTATCCAGCTTCTAAAAG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	94	90			NA	NA	3		NA											NA				195022900		2203	4300	6503	SO:0001819	synonymous_variant				CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331	23527	23527		ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing	16469	protein-coding gene	gene with protein product		607766	centaurin, beta 2	CENTB2	NA	11050434, 11062263	Standard	NM_012287	NM_012287	NA	Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1120C>T	3.37:g.195022900G>A		NA	A8K2V4|Q8N5Z8|Q9UQR3	37	CCDS33924.1	.	.	.	.	.	.	.	.	.	.	G	7.774	0.708055	0.15239	.	.	ENSG00000114331	ENST00000439758	.	.	.	5.65	4.76	0.60689	.	.	.	.	.	T	0.60689	0.2288	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58752	-0.7581	4	.	.	.	.	9.7794	0.40639	0.0746:0.1394:0.786:0.0	.	.	.	.	V	248	.	.	A	-	2	0	ACAP2	196504189	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.765000	0.68834	1.357000	0.45904	0.591000	0.81541	GCT	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342126.2		-	ENST00000326793.6	Silent	SNP	3 : 195022900 - 195022900 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	735	27
ENTPD6	955	broad.mit.edu	37	20	25205907	25205907	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25205907G>T	ENST00000360031.2	+	14	1489	c.1307G>T	c.(1306-1308)aGc>aTc	p.S436I	ENTPD6_ENST00000376652.4_Missense_Mutation_p.S437I|ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000433259.2_Missense_Mutation_p.Q417H|ENTPD6_ENST00000354989.5_Missense_Mutation_p.S420I	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	437						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						ACCTACGTCAGCCTGCTACTC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	82	94			NA	NA	20		NA											NA				25205907		2203	4300	6503	SO:0001583	missense			AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586	NA	955			3368	protein-coding gene	gene with protein product		603160	interleukin 6 signal transducer-2	CD39L2, IL6ST2	NA	9676430	Standard		NM_001247	NA	Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000360031.2:c.1307G>T	20.37:g.25205907G>T	ENSP00000353131:p.Ser436Ile	NA	Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	6.619|6.619|6.619	0.482540|0.482540|0.482540	0.12581|0.12581|0.12581	.|.|.	.|.|.	ENSG00000197586|ENSG00000197586|ENSG00000197586	ENST00000447877;ENST00000376666|ENST00000376641;ENST00000433259|ENST00000354989;ENST00000360031;ENST00000376652	.|T|T;T;T	.|0.19394|0.13778	.|2.15|2.56;2.56;2.56	5.76|5.76|5.76	3.79|3.79|3.79	0.43588|0.43588|0.43588	.|.|.	.|.|0.144262	.|.|0.64402	.|.|D	.|.|0.000006	T|T|T	0.10594|0.10594|0.10594	0.0259|0.0259|0.0259	L|L|L	0.34521|0.34521|0.34521	1.04|1.04|1.04	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|B;B;B|B;B;B;B	.|0.06786|0.31026	.|0.001;0.001;0.001|0.304;0.023;0.107;0.107	.|B;B;B|B;B;B;B	.|0.06405|0.30029	.|0.001;0.002;0.002|0.11;0.056;0.104;0.104	T|T|T	0.19745|0.19745|0.19745	-1.0296|-1.0296|-1.0296	5|9|10	.|0.72032|0.66056	.|D|D	.|0.01|0.02	-25.0532|-25.0532|-25.0532	8.7005|8.7005|8.7005	0.34323|0.34323|0.34323	0.0785:0.2848:0.6367:0.0|0.0785:0.2848:0.6367:0.0|0.0785:0.2848:0.6367:0.0	.|.|.	.|433;451;417|185;420;436;437	.|B4DDM7;B4DNK6;Q5QPI9|B4DHS2;O75354-2;Q5QPJ2;O75354	.|.;.;.|.;.;.;ENTP6_HUMAN	S|H|I	296;275|347;417|420;436;437	.|ENSP00000401895:Q417H|ENSP00000347084:S420I;ENSP00000353131:S436I;ENSP00000365840:S437I	.|ENSP00000365828:Q347H|ENSP00000347084:S420I	A|Q|S	+|+|+	1|3|2	0|2|0	ENTPD6|ENTPD6|ENTPD6	25153907|25153907|25153907	0.975000|0.975000|0.975000	0.34042|0.34042|0.34042	0.073000|0.073000|0.073000	0.20177|0.20177|0.20177	0.005000|0.005000|0.005000	0.04900|0.04900|0.04900	1.662000|1.662000|1.662000	0.37418|0.37418|0.37418	1.423000|1.423000|1.423000	0.47198|0.47198|0.47198	-0.257000|-0.257000|-0.257000	0.10917|0.10917|0.10917	GCC|CAG|AGC	ENTPD6-005	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000078399.2		+	ENST00000360031.2	Missense_Mutation	SNP	20 : 25205907 - 25205907 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	171	22
AMMECR1L	83607	broad.mit.edu	37	2	128622692	128622692	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128622692C>T	ENST00000272647.5	-	8	1169	c.909G>A	c.(907-909)ccG>ccA	p.P303P	AMMECR1L_ENST00000393001.1_Silent_p.P303P	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	303										central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		TGTAGAGGGGCGGGGCATGAA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	148	152			NA	NA	2		NA											NA				128622692		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2152.1	2q21	2012-11-15	2012-11-15		ENSG00000144233	ENSG00000144233	83607	83607			28658	protein-coding gene	gene with protein product			AMME chromosomal region gene 1-like		NA		Standard	NM_031445	NM_001199140	NA	Approved	MGC4268	uc002tpl.3	Q6DCA0	OTTHUMG00000131535	ENST00000272647.5:c.909G>A	2.37:g.128622692C>T		NA	B4E276	37	CCDS2152.1																																																																																			AMMECR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254392.1		-	ENST00000272647.5	Silent	SNP	2 : 128622692 - 128622692 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	680	60
WDR62	284403	broad.mit.edu	37	19	36590347	36590347	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36590347G>A	ENST00000401500.2	+	22	2602	c.2567G>A	c.(2566-2568)cGc>cAc	p.R856H	WDR62_ENST00000270301.7_Missense_Mutation_p.R856H	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	856					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CACGCCAAGCGCAGCTACCAG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	33	34			NA	NA	19		NA											NA				36590347		2203	4300	6503	SO:0001583	missense			BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702	284403	284403		WD repeat domain containing	24502	protein-coding gene	gene with protein product		613583	chromosome 19 open reading frame 14, microcephaly, primary autosomal recessive 2	C19orf14, MCPH2	NA	19910486, 20729831, 20890278, 21496009	Standard	NM_015671	NM_001083961	NA	Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000401500.2:c.2567G>A	19.37:g.36590347G>A	ENSP00000384792:p.Arg856His	NA	Q63HP9|Q659D7|Q8NBF7|Q96AD9	37	CCDS46059.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.994775	0.54041	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.47177	0.85;0.85	5.31	3.19	0.36642	.	0.319061	0.27223	N	0.020349	T	0.40040	0.1101	M	0.67953	2.075	0.80722	D	1	B;B	0.32893	0.389;0.175	B;B	0.27796	0.083;0.023	T	0.33574	-0.9863	10	0.42905	T	0.14	-17.2774	7.2465	0.26125	0.1954:0.0:0.8046:0.0	.	856;856	O43379-4;O43379	.;WDR62_HUMAN	H	856	ENSP00000384792:R856H;ENSP00000270301:R856H	ENSP00000270301:R856H	R	+	2	0	WDR62	41282187	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.029000	0.41098	1.243000	0.43853	0.655000	0.94253	CGC	WDR62-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109534.3		+	ENST00000401500.2	Missense_Mutation	SNP	19 : 36590347 - 36590347 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	386	68
C15orf39	56905	broad.mit.edu	37	15	75500779	75500779	+	Missense_Mutation	SNP	C	C	A	rs139185840	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75500779C>A	ENST00000360639.2	+	2	2710	c.2390C>A	c.(2389-2391)gCt>gAt	p.A797D	C15orf39_ENST00000567617.1_Missense_Mutation_p.A797D|C15orf39_ENST00000394987.4_Missense_Mutation_p.A797D			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	797										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CTAGAGACGGCTGGGCCCTGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	17	18			NA	NA	15		NA											NA				75500779		2191	4294	6485	SO:0001583	missense			AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173	56905	56905			24497	protein-coding gene	gene with protein product			chromosome 15 open reading frame 38~Name Same As HGNC:28782		NA		Standard	NM_015492	NM_015492	NA	Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.2390C>A	15.37:g.75500779C>A	ENSP00000353854:p.Ala797Asp	NA	B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	37	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	C	8.265	0.812139	0.16537	.	.	ENSG00000167173	ENST00000360639;ENST00000394987;ENST00000446981	T;T	0.38722	1.12;1.12	5.37	4.43	0.53597	.	0.689440	0.14516	N	0.314744	T	0.40979	0.1139	L	0.50333	1.59	0.09310	N	1	B;B	0.33637	0.42;0.42	B;B	0.35240	0.087;0.198	T	0.35525	-0.9785	10	0.66056	D	0.02	-3.4692	12.5436	0.56186	0.1794:0.8206:0.0:0.0	.	359;797	Q2VPA3;Q6ZRI6	.;CO039_HUMAN	D	797;797;195	ENSP00000353854:A797D;ENSP00000378438:A797D	ENSP00000353854:A797D	A	+	2	0	C15orf39	73287832	0.002000	0.14202	0.005000	0.12908	0.085000	0.17905	1.330000	0.33781	1.174000	0.42811	0.655000	0.94253	GCT	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286410.1		+	ENST00000360639.2	Missense_Mutation	SNP	15 : 75500779 - 75500779 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	86	16
ZNF385B	151126	broad.mit.edu	37	2	180308082	180308082	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:180308082G>T	ENST00000410066.1	-	10	1914	c.1311C>A	c.(1309-1311)ccC>ccA	p.P437P	ZNF385B_ENST00000336917.5_Silent_p.P335P|ZNF385B_ENST00000409692.1_Silent_p.P335P|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_Silent_p.P361P	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	437						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GCGAGGCAGAGGGCCGGGGTG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(155;204 2491 32774 51842)							NA				0													26	35	32			NA	NA	2		NA											NA				180308082		2203	4300	6503	SO:0001819	synonymous_variant			AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331	151126	151126			26332	protein-coding gene	gene with protein product		612344	zinc finger protein 533	ZNF533	NA	12477932	Standard	NM_152520	NM_152520	NA	Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.1311C>A	2.37:g.180308082G>T		NA	Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	37	CCDS33339.1																																																																																			ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335972.1		-	ENST00000410066.1	Silent	SNP	2 : 180308082 - 180308082 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	186	26
ZFP82	284406	broad.mit.edu	37	19	36884325	36884325	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36884325G>T	ENST00000392161.3	-	5	1159	c.917C>A	c.(916-918)gCt>gAt	p.A306D	ZFP82_ENST00000392171.1_Missense_Mutation_p.A306D	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAGCCTGTCAGCACTATTAAG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	137	137			NA	NA	19		NA											NA				36884325		2203	4300	6503	SO:0001583	missense			AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007	284406	284406		Zinc fingers, C2H2-type, -	28682	protein-coding gene	gene with protein product			zinc finger protein 545, zinc finger protein 82 homolog (mouse), zinc finger protein 82	ZNF545	NA	11853319	Standard	NM_133466	NM_133466	NA	Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.917C>A	19.37:g.36884325G>T	ENSP00000431265:p.Ala306Asp	NA	Q8NC63|Q8TF53	37	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211222	0.58343	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.14516	2.5;2.5	4.15	1.73	0.24493	Zinc finger, C2H2 (1);	0.374530	0.19582	N	0.110835	T	0.11537	0.0281	N	0.04043	-0.29	0.29207	N	0.874812	P	0.50528	0.936	P	0.59424	0.857	T	0.04307	-1.0961	10	0.87932	D	0	.	6.202	0.20581	0.1084:0.2875:0.6041:0.0	.	306	Q8N141	ZFP82_HUMAN	D	306	ENSP00000431265:A306D;ENSP00000446080:A306D	ENSP00000431265:A306D	A	-	2	0	ZFP82	41576165	0.000000	0.05858	0.997000	0.53966	0.980000	0.70556	0.338000	0.19858	1.064000	0.40671	0.655000	0.94253	GCT	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109552.2		-	ENST00000392161.3	Missense_Mutation	SNP	19 : 36884325 - 36884325 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	666	116
NTNG2	84628	broad.mit.edu	37	9	135073991	135073991	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135073991C>T	ENST00000393229.3	+	3	1628	c.852C>T	c.(850-852)atC>atT	p.I284I	NTNG2_ENST00000393228.4_Silent_p.I284I|NTNG2_ENST00000372179.3_Silent_p.I284I|NTNG2_ENST00000360670.3_Silent_p.I284I	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	284	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		TCGAGGTCATCGGCAGGTAAG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	29	27			NA	NA	9		NA											NA				135073991		2181	4270	6451	SO:0001819	synonymous_variant			AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358	84628	84628		Netrins	14288	protein-coding gene	gene with protein product	Netrin-G2		netrin G1	NTNG1	NA		Standard	NM_032536	NM_032536	NA	Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.852C>T	9.37:g.135073991C>T		NA	Q5JUJ2|Q6UXY0|Q96JH0	37	CCDS6946.1																																																																																			NTNG2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054779.1		+	ENST00000393229.3	Silent	SNP	9 : 135073991 - 135073991 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	334	75
MED13L	23389	broad.mit.edu	37	12	116410035	116410035	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:116410035C>T	ENST00000281928.3	-	26	5944	c.5738G>A	c.(5737-5739)aGt>aAt	p.S1913N		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1913					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AAGGAGGATACTCCAATCTGA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	90	92			NA	NA	12		NA											NA				116410035		2203	4300	6503	SO:0001583	missense			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066	23389	23389			22962	protein-coding gene	gene with protein product		608771	thyroid hormone receptor associated protein 2	THRAP2	NA		Standard		NM_015335	NA	Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.5738G>A	12.37:g.116410035C>T	ENSP00000281928:p.Ser1913Asn	NA	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	37	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879851	0.91740	.	.	ENSG00000123066	ENST00000281928	D	0.83755	-1.76	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.90807	0.7113	M	0.74647	2.275	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.91573	0.5273	10	0.66056	D	0.02	-12.2036	18.3134	0.90208	0.0:1.0:0.0:0.0	.	1913	Q71F56	MD13L_HUMAN	N	1913	ENSP00000281928:S1913N	ENSP00000281928:S1913N	S	-	2	0	MED13L	114894418	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.320000	0.79064	2.631000	0.89168	0.563000	0.77884	AGT	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403879.3		-	ENST00000281928.3	Missense_Mutation	SNP	12 : 116410035 - 116410035 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	394	71
UNC5C	8633	broad.mit.edu	37	4	96140199	96140199	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96140199T>C	ENST00000506749.1	-	10	1971	c.1623A>G	c.(1621-1623)ctA>ctG	p.L541L	UNC5C_ENST00000453304.1_Silent_p.L522L			O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	522	ZU5.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCTGCCTTGCTAGACTCTGGT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	114	125			NA	NA	4		NA											NA				96140199		2203	4300	6503	SO:0001819	synonymous_variant			AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168	8633	8633		Immunoglobulin superfamily / I-set domain containing	12569	protein-coding gene	gene with protein product		603610	unc5 (C.elegans homolog) c		NA	9126742, 9782087	Standard	NM_003728	NM_003728	NA	Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000506749.1:c.1623A>G	4.37:g.96140199T>C		NA	Q8IUT0	37																																																																																				UNC5C-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000363048.2		-	ENST00000506749.1	Silent	SNP	4 : 96140199 - 96140199 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	494	89
PSMA5	5686	broad.mit.edu	37	1	109954798	109954798	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109954798C>T	ENST00000271308.4	-	5	320	c.300G>A	c.(298-300)tgG>tgA	p.W100*	PSMA5_ENST00000538610.1_Nonsense_Mutation_p.W42*|PSMA5_ENST00000490870.1_5'UTR	NM_002790.3	NP_002781.2	P28066	PSA5_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 5	100					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)	5		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)		TGTAGGTGAACCAGTGGTTCT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	114	126			NA	NA	1		NA											NA				109954798		2203	4300	6503	SO:0001587	stop_gained			X61970	CCDS799.1, CCDS55619.1	1p13	2008-02-05			ENSG00000143106	ENSG00000143106	5686	5686		Proteasome (prosome, macropain) subunits	9534	protein-coding gene	gene with protein product		176844			NA	1888762	Standard	NM_002790	NM_002790	NA	Approved	ZETA	uc001dxn.3	P28066	OTTHUMG00000012001	ENST00000271308.4:c.300G>A	1.37:g.109954798C>T	ENSP00000271308:p.Trp100*	NA	B2R8F6|Q3T1C1|Q6IBF7	37	CCDS799.1	.	.	.	.	.	.	.	.	.	.	c	29.6	5.020195	0.93462	.	.	ENSG00000143106	ENST00000538610;ENST00000271308	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-25.0842	18.9585	0.92670	0.0:1.0:0.0:0.0	.	.	.	.	X	42;100	.	.	W	-	3	0	PSMA5	109756321	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.795000	0.85887	2.772000	0.95346	0.651000	0.88453	TGG	PSMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033192.2		-	ENST00000271308.4	Nonsense_Mutation	SNP	1 : 109954798 - 109954798 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	304	21
EPHA2	1969	broad.mit.edu	37	1	16460967	16460967	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16460967G>A	ENST00000358432.5	-	8	1832	c.1678C>T	c.(1678-1680)Cgc>Tgc	p.R560C		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	560					activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	ACGAACCTGCGGTGGATAAAG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	56	59			NA	NA	1		NA											NA				16460967		2202	4300	6502	SO:0001583	missense			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	1969	1969	2.7.10.1	EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3386	protein-coding gene	gene with protein product		176946	EphA2	ECK	NA	9119409	Standard	NM_004431	NM_004431	NA	Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1678C>T	1.37:g.16460967G>A	ENSP00000351209:p.Arg560Cys	NA	Q8N3Z2	37	CCDS169.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249744	0.59212	.	.	ENSG00000142627	ENST00000358432	T	0.13538	2.58	5.52	5.52	0.82312	.	0.167176	0.30118	N	0.010366	T	0.24470	0.0593	M	0.88241	2.94	0.54753	D	0.999983	D	0.56287	0.975	B	0.39876	0.312	T	0.31110	-0.9955	10	0.87932	D	0	.	15.0049	0.71504	0.0:0.0:1.0:0.0	.	560	P29317	EPHA2_HUMAN	C	560	ENSP00000351209:R560C	ENSP00000351209:R560C	R	-	1	0	EPHA2	16333554	1.000000	0.71417	1.000000	0.80357	0.356000	0.29392	1.174000	0.31932	2.604000	0.88044	0.650000	0.86243	CGC	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026322.1		-	ENST00000358432.5	Missense_Mutation	SNP	1 : 16460967 - 16460967 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	197	37
ZNF516	9658	broad.mit.edu	37	18	74154528	74154528	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74154528C>T	ENST00000443185.2	-	3	800	c.483G>A	c.(481-483)gaG>gaA	p.E161E	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		ATGCGGACCCCTCTGCCCCCT	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													10	13	12			NA	NA	18		NA											NA				74154528		1928	4066	5994	SO:0001819	synonymous_variant			D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493	9658	9658		Zinc fingers, C2H2-type	28990	protein-coding gene	gene with protein product		615114			NA	9039502	Standard	NM_014643	NM_014643	NA	Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.483G>A	18.37:g.74154528C>T		NA		37																																																																																				ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding			-	ENST00000443185.2	Silent	SNP	18 : 74154528 - 74154528 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	169	37
FOXN4	121643	broad.mit.edu	37	12	109719515	109719515	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109719515C>T	ENST00000299162.5	-	9	1095	c.991G>A	c.(991-993)Gcc>Acc	p.A331T	FOXN4_ENST00000355216.1_Missense_Mutation_p.A151T	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	331					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue 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			large_intestine(5)|lung(9)|ovary(2)	16						ACTGTGGTGGCGTGAGTCAGC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	15	16			NA	NA	12		NA											NA				109719515		2182	4275	6457	SO:0001583	missense			AF425596	CCDS9126.2	12q24.12	2008-02-05			ENSG00000139445	ENSG00000139445	121643	121643		Forkhead boxes	21399	protein-coding gene	gene with protein product		609429			NA		Standard	XM_062735	NM_213596	NA	Approved		uc001toe.4	Q96NZ1	OTTHUMG00000152868	ENST00000299162.5:c.991G>A	12.37:g.109719515C>T	ENSP00000299162:p.Ala331Thr	NA	Q6ZMR4|Q96NZ0	37	CCDS9126.2	.	.	.	.	.	.	.	.	.	.	C	8.360	0.832846	0.16820	.	.	ENSG00000139445	ENST00000355216;ENST00000299162	D;D	0.95272	-3.66;-3.24	5.29	1.2	0.21068	.	1.572910	0.03385	N	0.200953	D	0.89812	0.6823	L	0.44542	1.39	0.09310	N	1	B;B	0.16802	0.019;0.012	B;B	0.10450	0.005;0.005	T	0.73427	-0.3986	10	0.15066	T	0.55	-15.7102	2.2101	0.03945	0.1578:0.5154:0.1543:0.1725	.	331;331	A6H901;Q96NZ1	.;FOXN4_HUMAN	T	151;331	ENSP00000347354:A151T;ENSP00000299162:A331T	ENSP00000299162:A331T	A	-	1	0	FOXN4	108203898	0.011000	0.17503	0.022000	0.16811	0.301000	0.27625	0.172000	0.16704	0.009000	0.14813	-0.234000	0.12200	GCC	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328306.1		-	ENST00000299162.5	Missense_Mutation	SNP	12 : 109719515 - 109719515 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	140	20
KIAA1549	57670	broad.mit.edu	37	7	138529190	138529190	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138529190G>A	ENST00000440172.1	-	18	5372	c.5324C>T	c.(5323-5325)tCt>tTt	p.S1775F	KIAA1549_ENST00000242365.4_Missense_Mutation_p.S1725F|KIAA1549_ENST00000422774.1_Missense_Mutation_p.S1775F	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1775						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CAGCTCTGTAGACTGCAGCAA	0.617		NA	O	BRAF	pilocytic astrocytoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(119;1534 1718 44213 46230 50068)		Dom	yes		7	7q34	57670	KIAA1549		O	0													18	22	20			NA	NA	7		NA											NA				138529190		2013	4164	6177	SO:0001583	missense				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778	57670	57670			22219	protein-coding gene	gene with protein product		613344			NA		Standard		NM_020910	NA	Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000440172.1:c.5324C>T	7.37:g.138529190G>A	ENSP00000406661:p.Ser1775Phe	NA	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	37	CCDS47723.2	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837312	0.71373	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.30448	1.61;1.62;1.53	4.87	4.87	0.63330	.	0.380247	0.28577	N	0.014859	T	0.51143	0.1657	L	0.56769	1.78	0.46437	D	0.999045	D;P;D;P	0.67145	0.994;0.514;0.996;0.514	P;B;D;B	0.65874	0.87;0.351;0.939;0.351	T	0.53272	-0.8462	10	0.87932	D	0	.	16.7673	0.85527	0.0:0.0:1.0:0.0	.	1775;559;1775;559	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	F	1775;1725;1775	ENSP00000406661:S1775F;ENSP00000242365:S1725F;ENSP00000416040:S1775F	ENSP00000242365:S1725F	S	-	2	0	KIAA1549	138179730	1.000000	0.71417	0.859000	0.33776	0.484000	0.33280	7.599000	0.82757	2.558000	0.86282	0.650000	0.86243	TCT	KIAA1549-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347938.2		-	ENST00000440172.1	Missense_Mutation	SNP	7 : 138529190 - 138529190 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	109	18
KLHDC3	116138	broad.mit.edu	37	6	42986629	42986629	+	Silent	SNP	G	G	A	rs34597116		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42986629G>A	ENST00000326974.4	+	8	1044	c.849G>A	c.(847-849)ccG>ccA	p.P283P	KLHDC3_ENST00000332245.8_Silent_p.P224P|KLHDC3_ENST00000244670.8_Silent_p.P149P	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	283					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGATTGAACCGAAGGGGAAGG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	72	68			NA	NA	6		NA											NA				42986629		2202	4300	6502	SO:0001819	synonymous_variant			AB055925	CCDS4880.1	6p21.1	2003-06-12			ENSG00000124702	ENSG00000124702	116138	116138			20704	protein-coding gene	gene with protein product		611248			NA	12444059, 12606021	Standard	NM_057161	NM_057161	NA	Approved	PEAS, hPeas, dJ20C7.3	uc003otl.3	Q9BQ90	OTTHUMG00000014714	ENST00000326974.4:c.849G>A	6.37:g.42986629G>A		NA	A8K2W9	37	CCDS4880.1																																																																																			KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040570.1		+	ENST00000326974.4	Silent	SNP	6 : 42986629 - 42986629 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	873	152
HERC1	8925	broad.mit.edu	37	15	64017505	64017505	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64017505T>G	ENST00000443617.2	-	18	3641	c.3554A>C	c.(3553-3555)gAc>gCc	p.D1185A		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1185					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TTGAGGAGTGTCCATTTCTAC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	66	66			NA	NA	15		NA											NA				64017505		1998	4176	6174	SO:0001583	missense			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657	8925	8925		WD repeat domain containing	4867	protein-coding gene	gene with protein product		605109	hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1		NA	8861955, 9233772	Standard	NM_003922	NM_003922	NA	Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.3554A>C	15.37:g.64017505T>G	ENSP00000390158:p.Asp1185Ala	NA	Q8IW65	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	T	18.17	3.564733	0.65651	.	.	ENSG00000103657	ENST00000443617	T	0.24350	1.86	5.44	5.44	0.79542	.	0.287715	0.31450	N	0.007624	T	0.19886	0.0478	N	0.19112	0.55	0.54753	D	0.999989	B	0.24186	0.099	B	0.22601	0.04	T	0.03673	-1.1014	10	0.66056	D	0.02	.	15.8085	0.78534	0.0:0.0:0.0:1.0	.	1185	Q15751	HERC1_HUMAN	A	1185	ENSP00000390158:D1185A	ENSP00000390158:D1185A	D	-	2	0	HERC1	61804558	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	6.187000	0.72039	2.199000	0.70637	0.528000	0.53228	GAC	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418523.1		-	ENST00000443617.2	Missense_Mutation	SNP	15 : 64017505 - 64017505 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	181	28
PIK3R5	23533	broad.mit.edu	37	17	8791855	8791855	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8791855G>A	ENST00000447110.1	-	10	1373	c.1249C>T	c.(1249-1251)Cct>Tct	p.P417S	PIK3R5_ENST00000584803.1_Missense_Mutation_p.P417S|PIK3R5_ENST00000581552.1_Missense_Mutation_p.P417S	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	417					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						TTCTGCCCAGGCCTGCGGTGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(18;589 615 7696 20311 50332)							NA				0													17	19	18			NA	NA	17		NA											NA				8791855		2201	4299	6500	SO:0001583	missense			AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506	23533	23533			30035	protein-coding gene	gene with protein product		611317			NA	12507995	Standard	NM_014308	NM_014308	NA	Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.1249C>T	17.37:g.8791855G>A	ENSP00000392812:p.Pro417Ser	NA	B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	37	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.583346	0.28268	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T	0.76186	-1.0	5.51	-0.659	0.11424	.	0.537442	0.21129	N	0.079692	T	0.47655	0.1457	N	0.12182	0.205	0.24214	N	0.995461	B	0.02656	0.0	B	0.08055	0.003	T	0.24225	-1.0166	10	0.17369	T	0.5	-5.3769	6.06	0.19832	0.3788:0.0:0.5066:0.1146	.	417	Q8WYR1	PI3R5_HUMAN	S	417	ENSP00000392812:P417S	ENSP00000269300:P417S	P	-	1	0	PIK3R5	8732580	0.839000	0.29477	0.675000	0.29917	0.886000	0.51366	1.691000	0.37721	-0.061000	0.13110	-0.188000	0.12872	CCT	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000227003.2		-	ENST00000447110.1	Missense_Mutation	SNP	17 : 8791855 - 8791855 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	126	26
AGBL1	123624	broad.mit.edu	37	15	86822881	86822881	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86822881G>A	ENST00000441037.2	+	15	2044	c.1949G>A	c.(1948-1950)cGc>cAc	p.R650H	AGBL1_ENST00000389298.3_Missense_Mutation_p.R381H|AGBL1_ENST00000421325.2_Missense_Mutation_p.R650H	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	650					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AATCATTATCGCCAGAGTACA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	1,4099		0,1,2049	94	96	95		1949	0.1	0	15		95	0,8384		0,0,4192	no	missense	AGBL1	NM_152336.2	29	0,1,6241	AA,AG,GG	NA	0.0,0.0244,0.0080	benign	650/1067	86822881	1,12483	2050	4192	6242	SO:0001583	missense			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748	123624	123624			26504	protein-coding gene	gene with protein product	cytosolic carboxypeptidase 4	615496			NA	21074048, 24094747	Standard	NM_152336	NM_152336	NA	Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.1949G>A	15.37:g.86822881G>A	ENSP00000413001:p.Arg650His	NA	A1A4X5|A6NJH6|C9JHL5	37	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.561146	0.27915	2.44E-4	0.0	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.11277	2.8;2.79	5.3	0.0935	0.14477	.	0.605985	0.17360	N	0.177067	T	0.10121	0.0248	M	0.66939	2.045	0.09310	N	1	B;B;B	0.21147	0.052;0.052;0.01	B;B;B	0.15484	0.009;0.013;0.003	T	0.23904	-1.0175	10	0.42905	T	0.14	-0.9957	3.6769	0.08295	0.1411:0.3666:0.3668:0.1256	.	349;381;650	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	H	679;650;381	ENSP00000397173:R650H;ENSP00000373949:R381H	ENSP00000373949:R381H	R	+	2	0	AGBL1	84623885	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.615000	0.24329	-0.115000	0.11915	-0.140000	0.14226	CGC	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000314929.5		+	ENST00000441037.2	Missense_Mutation	SNP	15 : 86822881 - 86822881 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	403	73
RSBN1	54665	broad.mit.edu	37	1	114340180	114340180	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114340180C>T	ENST00000261441.5	-	2	1245	c.1182G>A	c.(1180-1182)gaG>gaA	p.E394E		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	394						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		aagcaagaAACTCCTCAGAAA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	39	40			NA	NA	1		NA											NA				114340180		2203	4299	6502	SO:0001819	synonymous_variant			AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019	54665	54665			25642	protein-coding gene	gene with protein product		615858			NA	12477932	Standard	NM_018364	NM_018364	NA	Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.1182G>A	1.37:g.114340180C>T		NA	A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	37	CCDS862.1																																																																																			RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033022.2		-	ENST00000261441.5	Silent	SNP	1 : 114340180 - 114340180 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	111	13
VPS37C	55048	broad.mit.edu	37	11	60899816	60899816	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60899816C>T	ENST00000301765.5	-	5	776	c.544G>A	c.(544-546)Gtc>Atc	p.V182I		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	182	Pro-rich.		V -> D (in dbSNP:rs2232142).		cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						CCCTGGGGGACTGGGCGCACC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	20	19			NA	NA	11		NA											NA				60899816		2197	4292	6489	SO:0001583	missense			AK097326	CCDS31573.1	11q12.2	2008-02-05	2006-04-04			ENSG00000167987	55048	55048			26097	protein-coding gene	gene with protein product		610038	vacuolar protein sorting 37C (yeast)		NA	15509564	Standard	NM_017966	XM_005274077	NA	Approved	FLJ20847	uc001nqv.1	A5D8V6		ENST00000301765.5:c.544G>A	11.37:g.60899816C>T	ENSP00000301765:p.Val182Ile	NA	Q8N3K4	37	CCDS31573.1	.	.	.	.	.	.	.	.	.	.	C	3.193	-0.165403	0.06461	.	.	ENSG00000167987	ENST00000301765;ENST00000540084	T	0.42131	0.98	4.71	1.78	0.24846	.	1.707430	0.03070	N	0.156996	T	0.29588	0.0738	N	0.19112	0.55	0.09310	N	1	B	0.17038	0.02	B	0.12156	0.007	T	0.15752	-1.0426	10	0.20519	T	0.43	2.7763	8.3183	0.32113	0.0:0.754:0.0:0.246	.	182	A5D8V6	VP37C_HUMAN	I	182	ENSP00000301765:V182I	ENSP00000301765:V182I	V	-	1	0	VPS37C	60656392	0.000000	0.05858	0.001000	0.08648	0.031000	0.12232	-0.810000	0.04505	0.979000	0.38497	0.462000	0.41574	GTC	VPS37C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396467.1		-	ENST00000301765.5	Missense_Mutation	SNP	11 : 60899816 - 60899816 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	91	13
ARID1B	57492	broad.mit.edu	37	6	157525014	157525014	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:157525014T>C	ENST00000346085.5	+	19	4910	c.4909T>C	c.(4909-4911)Tgg>Cgg	p.W1637R	ARID1B_ENST00000367148.1_Missense_Mutation_p.W1677R|ARID1B_ENST00000350026.5_Missense_Mutation_p.W1624R|ARID1B_ENST00000275248.4_Missense_Mutation_p.W1619R	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1624					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCCTGAGGCGTGGCGTGTGAT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													538	542	541			NA	NA	6		NA											NA				157525014		2203	4296	6499	SO:0001583	missense			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618	57492	57492		-	18040	protein-coding gene	gene with protein product		614556			NA		Standard	NM_020732	NM_017519	NA	Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000346085.5:c.4909T>C	6.37:g.157525014T>C	ENSP00000344546:p.Trp1637Arg	NA	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	37	CCDS55072.1	.	.	.	.	.	.	.	.	.	.	T	17.04	3.288410	0.59976	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.03386	4.36;4.4;4.33;4.37;3.95	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.10423	0.0255	L	0.61387	1.9	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.01084	-1.1457	10	0.87932	D	0	.	15.87	0.79108	0.0:0.0:0.0:1.0	.	1624;1637;1619	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	R	1637;1624;1677;1619;1146	ENSP00000344546:W1637R;ENSP00000055163:W1624R;ENSP00000356116:W1677R;ENSP00000275248:W1619R;ENSP00000412835:W1146R	ENSP00000275248:W1619R	W	+	1	0	ARID1B	157566706	1.000000	0.71417	0.924000	0.36721	0.897000	0.52465	8.040000	0.89188	2.145000	0.66743	0.533000	0.62120	TGG	ARID1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042827.3		+	ENST00000346085.5	Missense_Mutation	SNP	6 : 157525014 - 157525014 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2587	502
EEF1A1	1915	broad.mit.edu	37	6	74228449	74228449	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74228449C>T	ENST00000316292.9	-	4	1735	c.744G>A	c.(742-744)ctG>ctA	p.L248L	EEF1A1_ENST00000309268.6_Silent_p.L248L|EEF1A1_ENST00000331523.2_Silent_p.L248L|EEF1A1_ENST00000491404.1_Intron	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	248						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						CCTGGAGAGGCAGGCGCAAGG	0.483		NA									OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	133	133			NA	NA	6		NA											NA				74228449		2203	4300	6503	SO:0001819	synonymous_variant			BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508	1915	1915			3189	protein-coding gene	gene with protein product		130590	leukocyte receptor cluster (LRC) member 7	EF1A, EEF1A, LENG7	NA	8812466, 10941842	Standard	NM_001402	NM_001402	NA	Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.744G>A	6.37:g.74228449C>T		1151	P04719|P04720	37	CCDS4980.1																																																																																			EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041210.2		-	ENST00000316292.9	Silent	SNP	6 : 74228449 - 74228449 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	440	85
SKIV2L2	23517	broad.mit.edu	37	5	54603911	54603911	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54603911A>G	ENST00000230640.5	+	1	324	c.70A>G	c.(70-72)Aaa>Gaa	p.K24E	SKIV2L2_ENST00000545714.1_5'UTR|SKIV2L2_ENST00000504388.1_3'UTR	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	24					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GGCGGGAACCAAAAAAGACAA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(2;92 134 23744 29976 33782)							NA				0													84	81	82			NA	NA	5		NA											NA				54603911		2203	4300	6503	SO:0001583	missense			D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123	23517	23517			18734	protein-coding gene	gene with protein product	functional spliceosome-associated protein 118		KIAA0052	KIAA0052	NA		Standard		NM_015360	NA	Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.70A>G	5.37:g.54603911A>G	ENSP00000230640:p.Lys24Glu	NA	Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	37	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.562108	0.45590	.	.	ENSG00000039123	ENST00000230640	T	0.32753	1.44	5.36	5.36	0.76844	.	0.395813	0.27730	N	0.018097	T	0.23926	0.0579	L	0.50333	1.59	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07693	-1.0759	10	0.09843	T	0.71	.	8.6538	0.34051	0.8302:0.0:0.0:0.1698	.	24	P42285	SK2L2_HUMAN	E	24	ENSP00000230640:K24E	ENSP00000230640:K24E	K	+	1	0	SKIV2L2	54639668	0.997000	0.39634	0.985000	0.45067	0.835000	0.47333	3.739000	0.55075	2.254000	0.74563	0.459000	0.35465	AAA	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214108.1		+	ENST00000230640.5	Missense_Mutation	SNP	5 : 54603911 - 54603911 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	555	105
ITPRIP	85450	broad.mit.edu	37	10	106075278	106075278	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106075278G>T	ENST00000337478.1	-	2	703	c.532C>A	c.(532-534)Ctc>Atc	p.L178I	ITPRIP_ENST00000358187.2_Missense_Mutation_p.L178I|ITPRIP_ENST00000278071.2_Missense_Mutation_p.L178I	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	178						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CGGTTGCAGAGGCTCCTCAGG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	73	71			NA	NA	10		NA											NA				106075278		2203	4300	6503	SO:0001583	missense			AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841	85450	85450			29370	protein-coding gene	gene with protein product			KIAA1754, inositol 1,4,5-triphosphate receptor interacting protein	KIAA1754	NA	11214970, 16990268	Standard	NM_033397	NM_001272012	NA	Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.532C>A	10.37:g.106075278G>T	ENSP00000337178:p.Leu178Ile	NA	D3DRA5|Q5JU17|Q96MS8|Q9C0A9	37	CCDS7557.1	.	.	.	.	.	.	.	.	.	.	G	7.718	0.696517	0.15106	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187	T;T;T	0.23348	1.91;1.91;1.91	5.68	2.58	0.30949	.	0.274312	0.34200	N	0.004168	T	0.13329	0.0323	N	0.17082	0.46	0.23243	N	0.998052	B	0.06786	0.001	B	0.04013	0.001	T	0.20371	-1.0277	10	0.29301	T	0.29	-20.4168	7.24	0.26092	0.0:0.3762:0.3913:0.2325	.	178	Q8IWB1	IPRI_HUMAN	I	178	ENSP00000337178:L178I;ENSP00000278071:L178I;ENSP00000350915:L178I	ENSP00000278071:L178I	L	-	1	0	ITPRIP	106065268	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	2.223000	0.42936	0.669000	0.31146	0.563000	0.77884	CTC	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050204.1		-	ENST00000337478.1	Missense_Mutation	SNP	10 : 106075278 - 106075278 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	581	92
RILPL1	353116	broad.mit.edu	37	12	123983096	123983096	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123983096G>A	ENST00000340724.6	-	3	1406	c.340C>T	c.(340-342)Cct>Tct	p.P114S	RILPL1_ENST00000376874.4_Missense_Mutation_p.P266S			Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	266					neuroprotection	cytosol				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		CTCACCTCAGGCTCCTCCTCC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	38	37			NA	NA	12		NA											NA				123983096		2085	4218	6303	SO:0001583	missense			AK097550	CCDS45006.1	12q24.31	2007-11-27			ENSG00000188026	ENSG00000188026	353116	353116			26814	protein-coding gene	gene with protein product		614092			NA	14668488	Standard	NM_178314	NM_178314	NA	Approved	FLJ39378	uc001ufe.2	Q5EBL4	OTTHUMG00000168686	ENST00000340724.6:c.340C>T	12.37:g.123983096G>A	ENSP00000345874:p.Pro114Ser	NA	Q66K36|Q8N1M0	37		.	.	.	.	.	.	.	.	.	.	G	10.38	1.333126	0.24167	.	.	ENSG00000188026	ENST00000376874;ENST00000340724	T;T	0.19394	2.15;2.15	5.54	3.48	0.39840	.	0.650449	0.15025	N	0.284775	T	0.13372	0.0324	L	0.40543	1.245	0.58432	D	0.999999	B;B;B	0.23249	0.002;0.049;0.082	B;B;B	0.25140	0.006;0.026;0.058	T	0.06991	-1.0796	10	0.09590	T	0.72	-20.6686	3.4791	0.07595	0.1194:0.1558:0.5535:0.1713	.	242;266;115	Q5EBL4-2;Q5EBL4;Q5EBL4-3	.;RIPL1_HUMAN;.	S	266;114	ENSP00000366070:P266S;ENSP00000345874:P114S	ENSP00000345874:P114S	P	-	1	0	RILPL1	122549049	1.000000	0.71417	0.998000	0.56505	0.630000	0.37929	2.138000	0.42140	1.303000	0.44873	0.555000	0.69702	CCT	RILPL1-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000400597.1		-	ENST00000340724.6	Missense_Mutation	SNP	12 : 123983096 - 123983096 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	60
OCIAD1	54940	broad.mit.edu	37	4	48844691	48844691	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48844691G>T	ENST00000425583.2	+	4	453	c.178G>T	c.(178-180)Gga>Tga	p.G60*	OCIAD1_ENST00000264312.7_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000513391.2_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000506801.1_Nonsense_Mutation_p.G6*|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000444354.2_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000381473.3_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000509122.1_Nonsense_Mutation_p.G33*|OCIAD1_ENST00000508293.1_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000396448.2_Nonsense_Mutation_p.G60*	NM_001079842.2	NP_001073311.2	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	60	OCIA.					endosome	protein binding			breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						GATTACTCAAGGATTAATTAG	0.284		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	67	67			NA	NA	4		NA											NA				48844691		2196	4291	6487	SO:0001587	stop_gained			AF324350	CCDS3484.1, CCDS43228.1, CCDS47052.1	4p11	2010-03-19			ENSG00000109180	ENSG00000109180	54940	54940			16074	protein-coding gene	gene with protein product					NA	11162530, 18328549	Standard	NM_017830	NM_017830	NA	Approved	FLJ20455, TPA018, OCIA, Asrij	uc010igk.3	Q9NX40	OTTHUMG00000102095	ENST00000425583.2:c.178G>T	4.37:g.48844691G>T	ENSP00000416943:p.Gly60*	NA	C9K030|Q9BZE8	37	CCDS47052.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826178	0.90955	.	.	ENSG00000109180	ENST00000504654;ENST00000509122;ENST00000509664;ENST00000505922;ENST00000514981;ENST00000508996;ENST00000507210;ENST00000264312;ENST00000396448;ENST00000512236;ENST00000509164;ENST00000511102;ENST00000381473;ENST00000444354;ENST00000509963;ENST00000509246;ENST00000506801;ENST00000503016;ENST00000510824;ENST00000425583;ENST00000508293;ENST00000513391	.	.	.	5.57	5.57	0.84162	.	0.295147	0.36482	N	0.002563	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-18.612	10.8701	0.46879	0.0862:0.0:0.9138:0.0	.	.	.	.	X	60;33;60;33;60;60;60;60;60;60;60;60;60;60;60;6;6;6;6;60;60;60	.	ENSP00000264312:G60X	G	+	1	0	OCIAD1	48539448	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.702000	0.47102	2.785000	0.95823	0.655000	0.94253	GGA	OCIAD1-201	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361811.1		+	ENST00000425583.2	Nonsense_Mutation	SNP	4 : 48844691 - 48844691 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	250	30
CDH9	1007	broad.mit.edu	37	5	26903822	26903822	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:26903822G>A	ENST00000231021.4	-	6	1095	c.923C>T	c.(922-924)gCt>gTt	p.A308V		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	308	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATCTCCTTCAGCAATGCTATA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(8;187 585 15745 40864 52829)							NA				0													293	255	267			NA	NA	5		NA											NA				26903822		2203	4300	6503	SO:0001583	missense			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100	1007	1007		Cadherins / Major cadherins	1768	protein-coding gene	gene with protein product		609974			NA	2059658	Standard	NM_016279	NM_016279	NA	Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.923C>T	5.37:g.26903822G>A	ENSP00000231021:p.Ala308Val	NA	Q3B7I5	37	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	4.459	0.084935	0.08583	.	.	ENSG00000113100	ENST00000231021	T	0.50813	0.73	5.74	4.85	0.62838	Cadherin (4);Cadherin-like (1);	0.770981	0.12924	N	0.427965	T	0.17023	0.0409	N	0.00742	-1.23	0.20638	N	0.999873	B	0.02656	0.0	B	0.04013	0.001	T	0.09618	-1.0666	9	.	.	.	.	10.8091	0.46535	0.1489:0.0:0.8511:0.0	.	308	Q9ULB4	CADH9_HUMAN	V	308	ENSP00000231021:A308V	.	A	-	2	0	CDH9	26939579	0.079000	0.21365	0.994000	0.49952	0.741000	0.42261	2.924000	0.48876	2.881000	0.98747	0.650000	0.86243	GCT	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207352.1		-	ENST00000231021.4	Missense_Mutation	SNP	5 : 26903822 - 26903822 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1064	216
RBBP6	5930	broad.mit.edu	37	16	24574565	24574565	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24574565G>T	ENST00000319715.4	+	11	1767	c.1335G>T	c.(1333-1335)gaG>gaT	p.E445D	RBBP6_ENST00000348022.2_Missense_Mutation_p.E445D|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	445					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TTGCATCAGAGCACTCAAAGG	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	87	84			NA	NA	16		NA											NA				24574565		2184	4290	6474	SO:0001583	missense				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257	5930	5930			9889	protein-coding gene	gene with protein product	proliferation potential-related protein	600938	retinoblastoma-binding protein 6		NA	8595913, 16396680	Standard	NM_006910	NM_006910	NA	Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.1335G>T	16.37:g.24574565G>T	ENSP00000317872:p.Glu445Asp	NA	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	37	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357741	0.41801	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.14391	2.51;2.52	5.75	-1.1	0.09872	.	0.219325	0.31113	N	0.008225	T	0.05777	0.0151	N	0.14661	0.345	0.31755	N	0.634154	B;B	0.09022	0.002;0.001	B;B	0.10450	0.005;0.002	T	0.32851	-0.9891	10	0.19147	T	0.46	-26.9606	6.0765	0.19919	0.3838:0.0:0.4308:0.1854	.	445;445	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	D	445	ENSP00000317872:E445D;ENSP00000316291:E445D	ENSP00000317872:E445D	E	+	3	2	RBBP6	24482066	0.003000	0.15002	0.996000	0.52242	0.971000	0.66376	-1.903000	0.01594	-0.076000	0.12775	-0.471000	0.05019	GAG	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214067.2		+	ENST00000319715.4	Missense_Mutation	SNP	16 : 24574565 - 24574565 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	822	28
PI4KA	5297	broad.mit.edu	37	22	21150489	21150489	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21150489C>T	ENST00000255882.6	-	18	2308	c.2222G>A	c.(2221-2223)gGg>gAg	p.G741E	PI4KA_ENST00000572273.1_Missense_Mutation_p.G683E	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	683					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CCCCTCCAGCCCCAGCTGCAC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(136;1332 1831 3115 23601 50806)							NA				0													91	66	75			NA	NA	22		NA											NA				21150489		2203	4300	6503	SO:0001583	missense			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973	5297	5297			8983	protein-coding gene	gene with protein product		600286		PIK4CA	NA	7961848, 8662589	Standard	NM_058004	NM_002650	NA	Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000255882.6:c.2222G>A	22.37:g.21150489C>T	ENSP00000255882:p.Gly741Glu	NA	Q7Z625|Q9UPG2	37	CCDS33603.2	.	.	.	.	.	.	.	.	.	.	C	31	5.073799	0.94000	.	.	ENSG00000241973	ENST00000255882	.	.	.	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.80539	0.4642	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83935	0.0308	9	0.87932	D	0	-24.2467	17.6482	0.88154	0.0:1.0:0.0:0.0	.	683	P42356	PI4KA_HUMAN	E	683	.	ENSP00000255882:G683E	G	-	2	0	PI4KA	19480489	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.597000	0.82733	2.402000	0.81655	0.591000	0.81541	GGG	PI4KA-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075723.5		-	ENST00000255882.6	Missense_Mutation	SNP	22 : 21150489 - 21150489 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	194	23
TLR3	7098	broad.mit.edu	37	4	186997978	186997978	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186997978G>A	ENST00000296795.3	+	2	309	c.205G>A	c.(205-207)Gcc>Acc	p.A69T		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	NA					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		ATTACCAGCCGCCAACTTCAC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	126	127			NA	NA	4		NA											NA				186997978		2203	4300	6503	SO:0001583	missense			U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342	7098	7098		CD molecules	11849	protein-coding gene	gene with protein product		603029			NA	9435236	Standard		NM_003265	NA	Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.205G>A	4.37:g.186997978G>A	ENSP00000296795:p.Ala69Thr	NA	Q4VAL2	37	CCDS3846.1	.	.	.	.	.	.	.	.	.	.	g	11.00	1.509490	0.27036	.	.	ENSG00000164342	ENST00000296795;ENST00000513189;ENST00000542020	T;T	0.79554	0.42;-1.28	5.47	3.74	0.42951	.	0.523286	0.21012	N	0.081664	T	0.64136	0.2571	N	0.13098	0.295	0.80722	D	1	B	0.14438	0.01	B	0.17433	0.018	T	0.53229	-0.8468	10	0.16420	T	0.52	.	11.372	0.49704	0.0664:0.0:0.8068:0.1268	.	69	O15455	TLR3_HUMAN	T	69	ENSP00000296795:A69T;ENSP00000423386:A69T	ENSP00000296795:A69T	A	+	1	0	TLR3	187234972	0.553000	0.26513	0.993000	0.49108	0.020000	0.10135	3.182000	0.50910	0.776000	0.33473	-0.188000	0.12872	GCC	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360313.4		+	ENST00000296795.3	Missense_Mutation	SNP	4 : 186997978 - 186997978 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	455	96
SLC9A4	389015	broad.mit.edu	37	2	103141507	103141507	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103141507C>A	ENST00000295269.4	+	10	2300	c.1843C>A	c.(1843-1845)Ctc>Atc	p.L615I		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	615					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CAAATACAACCTCAAACCCCA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													192	206	201			NA	NA	2		NA											NA				103141507		2203	4300	6503	SO:0001583	missense				CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251	389015	389015		Solute carriers	11077	protein-coding gene	gene with protein product		600531	solute carrier family 9 (sodium/hydrogen exchanger), isoform 4, solute carrier family 9 (sodium/hydrogen exchanger), member 4		NA	8199403	Standard	NM_001011552.3	NM_001011552	NA	Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.1843C>A	2.37:g.103141507C>A	ENSP00000295269:p.Leu615Ile	NA	Q69YK0	37	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488560	0.44249	.	.	ENSG00000180251	ENST00000295269	T	0.47528	0.84	5.84	4.03	0.46877	.	0.268148	0.37530	N	0.002059	T	0.64238	0.2580	M	0.75264	2.295	0.32570	N	0.529854	D	0.63046	0.992	D	0.63703	0.917	T	0.74355	-0.3692	10	0.54805	T	0.06	.	12.1068	0.53818	0.0:0.8556:0.0:0.1444	.	615	Q6AI14	SL9A4_HUMAN	I	615	ENSP00000295269:L615I	ENSP00000295269:L615I	L	+	1	0	SLC9A4	102507939	1.000000	0.71417	0.956000	0.39512	0.001000	0.01503	3.026000	0.49689	1.481000	0.48307	-0.152000	0.13540	CTC	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329498.1		+	ENST00000295269.4	Missense_Mutation	SNP	2 : 103141507 - 103141507 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1539	374
MUC16	94025	broad.mit.edu	37	19	9058483	9058483	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9058483T>C	ENST00000397910.4	-	3	29166	c.28963A>G	c.(28963-28965)Aca>Gca	p.T9655A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9657	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T5288A(1)|p.T9655A(1)		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						GCAGATTCTGTCATGATGGGA	0.502		NA											t	1	5e-04	NA	NA	2184	0.0017	0.9991	,	,	NA	3e-04	NA	NA	NA	9e-04	0.6802	LOWCOV	NA	NA	2e-04	SNP								NA				2	Substitution - Missense(2)	large_intestine(2)											173	152	159			NA	NA	19		NA											NA				9058483		2003	4169	6172	SO:0001583	missense			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.28963A>G	19.37:g.9058483T>C	ENSP00000381008:p.Thr9655Ala	NA	Q6ZQW5|Q96RK2	37	CCDS54212.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	t	3.411	-0.120141	0.06838	.	.	ENSG00000181143	ENST00000397910	T	0.02301	4.35	2.87	-5.75	0.02384	.	.	.	.	.	T	0.01254	0.0041	N	0.12746	0.255	.	.	.	B	0.16603	0.018	B	0.12837	0.008	T	0.47315	-0.9127	8	0.87932	D	0	.	2.8337	0.05507	0.1338:0.4125:0.2706:0.183	.	9655	B5ME49	.	A	9655	ENSP00000381008:T9655A	ENSP00000381008:T9655A	T	-	1	0	MUC16	8919483	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.607000	0.05648	-2.430000	0.00557	-0.710000	0.03640	ACA	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Missense_Mutation	SNP	19 : 9058483 - 9058483 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	405	86
SLC26A5	375611	broad.mit.edu	37	7	103033451	103033451	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103033451G>T	ENST00000306312.3	-	10	1295	c.1034C>A	c.(1033-1035)gCc>gAc	p.A345D	SLC26A5_ENST00000393727.1_Missense_Mutation_p.A345D|SLC26A5_ENST00000393723.1_Missense_Mutation_p.A345D|SLC26A5_ENST00000432958.2_Missense_Mutation_p.A345D|SLC26A5_ENST00000393735.2_Missense_Mutation_p.A345D|SLC26A5_ENST00000393729.1_Missense_Mutation_p.A308D|SLC26A5_ENST00000393730.1_Missense_Mutation_p.A345D|SLC26A5_ENST00000339444.6_Missense_Mutation_p.A345D|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Intron	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	345					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	p.A345V(1)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GATGGCTATGGCAATGGCATC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											223	174	191			NA	NA	7		NA											NA				103033451		2203	4300	6503	SO:0001583	missense			AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615	375611	375611		Solute carriers	9359	protein-coding gene	gene with protein product	deafness, neurosensory, autosomal recessive, 61	604943	prestin (motor protein)	PRES	NA	10821263	Standard	NM_198999	NM_206883	NA	Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.1034C>A	7.37:g.103033451G>T	ENSP00000304783:p.Ala345Asp	NA	Q86UF8|Q86UF9|Q86UG0	37	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	G	33	5.230698	0.95207	.	.	ENSG00000170615	ENST00000339444;ENST00000393735;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37;-3.37;-3.37;-3.37;-3.37	5.74	5.74	0.90152	Sulphate transporter (1);	0.048654	0.85682	D	0.000000	D	0.97473	0.9173	M	0.89840	3.065	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.87578	0.998;0.995;0.979;0.992	D	0.97869	1.0285	10	0.87932	D	0	.	19.514	0.95155	0.0:0.0:1.0:0.0	.	345;345;345;345	P58743;Q496J2;P58743-3;P58743-2	S26A5_HUMAN;.;.;.	D	345;345;345;345;345;308;345;345	ENSP00000342396:A345D;ENSP00000377336:A345D;ENSP00000304783:A345D;ENSP00000377331:A345D;ENSP00000389733:A345D;ENSP00000377330:A308D;ENSP00000377328:A345D;ENSP00000377324:A345D	ENSP00000304783:A345D	A	-	2	0	SLC26A5	102820687	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.011000	0.93618	2.707000	0.92482	0.655000	0.94253	GCC	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313860.1		-	ENST00000306312.3	Missense_Mutation	SNP	7 : 103033451 - 103033451 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	399	77
SRCAP	10847	broad.mit.edu	37	16	30745907	30745907	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30745907G>T	ENST00000262518.4	+	31	7085	c.6700G>T	c.(6700-6702)Gcc>Tcc	p.A2234S	SRCAP_ENST00000344771.4_Missense_Mutation_p.A2076S|SRCAP_ENST00000395059.2_Missense_Mutation_p.A2172S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2234	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGAGACTGTGGCCAGCAAGCA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	110	112			NA	NA	16		NA											NA				30745907		2197	4300	6497	SO:0001583	missense			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603	10847	10847			16974	protein-coding gene	gene with protein product	Swi2/Snf2-related ATPase homolog (S. cerevisiae), domino homolog 1 (Drosophila)	611421			NA	10347196, 9205841	Standard	NM_006662	NM_006662	NA	Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.6700G>T	16.37:g.30745907G>T	ENSP00000262518:p.Ala2234Ser	NA	B0JZA6|O15026|Q7Z744|Q9Y5L9	37	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	14.56	2.573208	0.45902	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	T;T;T	0.07688	3.17;3.17;3.17	6.04	6.04	0.98038	.	0.240983	0.29480	N	0.012035	T	0.07369	0.0186	N	0.04508	-0.205	0.30318	N	0.787897	D;D	0.56287	0.975;0.958	P;B	0.52386	0.697;0.423	T	0.27262	-1.0079	10	0.24483	T	0.36	-13.8238	12.661	0.56813	0.076:0.0:0.924:0.0	.	2172;2234	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	S	2234;2172;2076	ENSP00000262518:A2234S;ENSP00000378499:A2172S;ENSP00000343042:A2076S	ENSP00000262518:A2234S	A	+	1	0	SRCAP	30653408	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.883000	0.48554	2.873000	0.98535	0.563000	0.77884	GCC	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255523.1		+	ENST00000262518.4	Missense_Mutation	SNP	16 : 30745907 - 30745907 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	502	110
PLCL2	23228	broad.mit.edu	37	3	17052328	17052328	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:17052328G>A	ENST00000418129.2	+	2	1577	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H	PLCL2_ENST00000432376.1_Missense_Mutation_p.R371H|PLCL2_ENST00000396755.2_Missense_Mutation_p.R371H|PLCL2_ENST00000460467.1_Intron	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	497					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						ATAGTTTTCCGCAGTGTCATT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	97	100			NA	NA	3		NA											NA				17052328		2203	4300	6503	SO:0001583	missense			AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822	23228	23228			9064	protein-coding gene	gene with protein product		614276	phospholipase C, epsilon 2	PLCE2	NA	10470851	Standard		NM_015184	NA	Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.1112G>A	3.37:g.17052328G>A	ENSP00000409637:p.Arg371His	NA	A8K5V4|Q8N498|Q9H8L0|Q9UFP9	37	CCDS33713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.00|15.00	2.702685|2.702685	0.48307|0.48307	.|.	.|.	ENSG00000154822|ENSG00000154822	ENST00000419842|ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	.|T;T;T	.|0.66280	.|-0.2;-0.2;-0.2	5.96|5.96	5.96|5.96	0.96718|0.96718	.|PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	.|0.047783	.|0.85682	.|D	.|0.000000	T|T	0.60287|0.60287	0.2257|0.2257	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999999|0.999999	.|P	.|0.38455	.|0.632	.|B	.|0.34779	.|0.189	T|T	0.63629|0.63629	-0.6594|-0.6594	4|9	.|0.66056	.|D	.|0.02	.|.	20.4008|20.4008	0.98991|0.98991	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|497	.|Q9UPR0	.|PLCL2_HUMAN	T|H	115|371;498;371;371	.|ENSP00000409637:R371H;ENSP00000379979:R371H;ENSP00000412836:R371H	.|ENSP00000285094:R498H	A|R	+|+	1|2	0|0	PLCL2|PLCL2	17027332|17027332	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.911000|0.911000	0.54048|0.54048	8.062000|8.062000	0.89475|0.89475	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GCA|CGC	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340250.3		+	ENST00000418129.2	Missense_Mutation	SNP	3 : 17052328 - 17052328 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	447	79
ZMIZ1	57178	broad.mit.edu	37	10	81037008	81037008	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81037008C>T	ENST00000334512.5	+	8	923	c.351C>T	c.(349-351)agC>agT	p.S117S	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	117					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GCCGCCAGAGCGATCCCCCTG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4405	2.1+/-5.4	0,1,2202	54	51	52		351	-0.2	1	10		52	0,8600		0,0,4300	no	coding-synonymous	ZMIZ1	NM_020338.3		0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077		117/1068	81037008	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175	57178	57178		Zinc fingers, MIZ-type	16493	protein-coding gene	gene with protein product		607159	retinoic acid induced 17	RAI17	NA	15626329	Standard	NM_020338	NM_020338	NA	Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.351C>T	10.37:g.81037008C>T		NA	Q5JSH9|Q7Z7E6	37	CCDS7357.1																																																																																			ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048944.2		+	ENST00000334512.5	Silent	SNP	10 : 81037008 - 81037008 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	304	64
MAB21L1	4081	broad.mit.edu	37	13	36050059	36050059	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36050059C>T	ENST00000379919.4	-	1	773	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000540320.1_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	73					anatomical structure morphogenesis	nucleus		p.E73K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		ACTTCAAATTCGGTGGGGGAG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	skin(1)											94	94	94			NA	NA	13		NA											NA				36050059		2203	4300	6503	SO:0001583	missense			BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660	4081	4081			6757	protein-coding gene	gene with protein product		601280	mab-21 (C. elegans)-like 1		NA	8733127	Standard	NM_005584	NM_005584	NA	Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.217G>A	13.37:g.36050059C>T	ENSP00000369251:p.Glu73Lys	NA	Q6I9T5	37	CCDS9353.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.729709	0.89390	.	.	ENSG00000180660	ENST00000379919	T	0.11063	2.81	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.27594	0.0678	M	0.82323	2.585	0.80722	D	1	P	0.48230	0.907	P	0.47827	0.558	T	0.02901	-1.1096	10	0.54805	T	0.06	-0.5448	19.7375	0.96212	0.0:1.0:0.0:0.0	.	73	Q13394	MB211_HUMAN	K	73	ENSP00000369251:E73K	ENSP00000369251:E73K	E	-	1	0	MAB21L1	34948059	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	7.818000	0.86416	2.680000	0.91292	0.655000	0.94253	GAA	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044459.3		-	ENST00000379919.4	Missense_Mutation	SNP	13 : 36050059 - 36050059 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	606	125
CLCA2	9635	broad.mit.edu	37	1	86909588	86909588	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86909588C>A	ENST00000370565.4	+	10	1769	c.1607C>A	c.(1606-1608)cCt>cAt	p.P536H		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	536					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		AGTGGTCCTCCTGAGATTATA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)							NA				0													139	130	133			NA	NA	1		NA											NA				86909588		2203	4300	6503	SO:0001583	missense				CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975	9635	9635			2016	protein-coding gene	gene with protein product		604003	chloride channel, calcium activated, family member 2, chloride channel regulator 2		NA		Standard	NM_006536	NM_006536	NA	Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.1607C>A	1.37:g.86909588C>A	ENSP00000359596:p.Pro536His	NA	A8K2T3|Q9Y6N2	37	CCDS708.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922572	0.52653	.	.	ENSG00000137975	ENST00000370565	T	0.61742	0.08	5.66	4.74	0.60224	Domain of unknown function DUF1973 (1);	0.060811	0.64402	D	0.000003	T	0.71492	0.3346	M	0.86805	2.84	0.42859	D	0.994109	D	0.89917	1.0	D	0.77557	0.99	T	0.73924	-0.3829	10	0.29301	T	0.29	-10.2944	15.6306	0.76906	0.1386:0.8614:0.0:0.0	.	536	Q9UQC9	CLCA2_HUMAN	H	536	ENSP00000359596:P536H	ENSP00000359596:P536H	P	+	2	0	CLCA2	86682176	1.000000	0.71417	0.961000	0.40146	0.265000	0.26407	3.317000	0.51968	1.382000	0.46385	0.650000	0.86243	CCT	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000028284.1		+	ENST00000370565.4	Missense_Mutation	SNP	1 : 86909588 - 86909588 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	558	135
MYF5	4617	broad.mit.edu	37	12	81111216	81111216	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81111216G>A	ENST00000228644.3	+	1	526	c.374G>A	c.(373-375)aGg>aAg	p.R125K		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	125	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GAGATCCTCAGGAATGCCATC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	84	84			NA	NA	12		NA											NA				81111216		2203	4300	6503	SO:0001583	missense				CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049	4617	4617		Basic helix-loop-helix proteins	7565	protein-coding gene	gene with protein product		159990			NA	8978788, 12105204	Standard	NM_005593	NM_005593	NA	Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.374G>A	12.37:g.81111216G>A	ENSP00000228644:p.Arg125Lys	NA	Q6ISR9	37	CCDS9020.1	.	.	.	.	.	.	.	.	.	.	G	35	5.556658	0.96514	.	.	ENSG00000111049	ENST00000228644	D	0.98105	-4.72	6.06	6.06	0.98353	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.98286	0.9432	L	0.56280	1.765	0.80722	D	1	D	0.67145	0.996	D	0.66847	0.947	D	0.98797	1.0738	10	0.66056	D	0.02	-8.8803	20.6208	0.99490	0.0:0.0:1.0:0.0	.	125	P13349	MYF5_HUMAN	K	125	ENSP00000228644:R125K	ENSP00000228644:R125K	R	+	2	0	MYF5	79635347	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.416000	0.97383	2.882000	0.98803	0.655000	0.94253	AGG	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407757.1		+	ENST00000228644.3	Missense_Mutation	SNP	12 : 81111216 - 81111216 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	703	132
CFHR1	3078	broad.mit.edu	37	1	196800998	196800998	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196800998C>A	ENST00000320493.5	+	6	950	c.862C>A	c.(862-864)Ctt>Att	p.L288I	CFHR1_ENST00000367424.4_Missense_Mutation_p.L229I|CFHR2_ENST00000367421.3_Intron	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	288	Sushi 5.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						CAAACAGAAGCTTTATTTGAG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	146	139			NA	NA	1		NA											NA				196800998		1891	4135	6026	SO:0001583	missense			M65292	CCDS1386.1	1q32	2014-09-17	2004-08-09	2006-02-28	ENSG00000244414	ENSG00000244414	3078	3078		Complement system	4888	protein-coding gene	gene with protein product		134371	H factor (complement)-like 1, complement factor H-related 1 pseudogene, H factor (complement)-like 2	HFL1, CFHL1, CFHR1P, HFL2, CFHL1P	NA	1711047, 1826708	Standard	NM_002113	NM_002113	NA	Approved	H36-1, FHR1, CFHL, H36-2		Q03591	OTTHUMG00000036276	ENST00000320493.5:c.862C>A	1.37:g.196800998C>A	ENSP00000314299:p.Leu288Ile	NA	A8K465|Q3B774|Q9UJ17	37	CCDS1386.1	.	.	.	.	.	.	.	.	.	.	.	0.024	-1.387448	0.01194	.	.	ENSG00000244414	ENST00000367424;ENST00000320493	T;T	0.64618	-0.11;-0.11	2.77	-5.55	0.02536	Complement control module (1);Sushi/SCR/CCP (3);	.	.	.	.	T	0.33904	0.0879	L	0.33668	1.02	0.09310	N	1	P;B	0.34892	0.474;0.234	B;B	0.28232	0.073;0.087	T	0.27157	-1.0082	9	0.10377	T	0.69	.	0.6071	0.00755	0.3528:0.1825:0.1121:0.3526	.	288;1189	Q03591;A8K5T0	FHR1_HUMAN;.	I	229;288	ENSP00000356394:L229I;ENSP00000314299:L288I	ENSP00000314299:L288I	L	+	1	0	CFHR1	195067621	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.446000	0.00232	-3.448000	0.00161	-1.639000	0.00775	CTT	CFHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088251.2		+	ENST00000320493.5	Missense_Mutation	SNP	1 : 196800998 - 196800998 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	397	131
ALPP	250	broad.mit.edu	37	2	233244614	233244614	+	Missense_Mutation	SNP	G	G	A	rs138033708		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233244614G>A	ENST00000392027.2	+	5	894	c.625G>A	c.(625-627)Gct>Act	p.A209T	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	209						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CCAGGACATCGCTACGCAGCT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	70	70			NA	NA	2		NA											NA				233244614		2203	4299	6502	SO:0001583	missense			M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	250	250	3.1.3.1		439	protein-coding gene	gene with protein product	Regan isozyme	171800	alkaline phosphatase, placental (Regan isozyme)		NA	3001717, 3461452	Standard	NM_001632	XM_005246439	NA	Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.625G>A	2.37:g.233244614G>A	ENSP00000375881:p.Ala209Thr	NA	P05188|P06861|Q53S78|Q96DB7	37	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	.	14.15	2.449547	0.43531	.	.	ENSG00000163283	ENST00000392027	D	0.96940	-4.18	2.31	1.36	0.22044	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97729	0.9255	M	0.88842	2.985	0.53005	D	0.999963	D	0.89917	1.0	D	0.70016	0.967	D	0.96819	0.9602	10	0.66056	D	0.02	.	9.4929	0.38971	0.0:0.0:0.6243:0.3757	.	209	P05187	PPB1_HUMAN	T	209	ENSP00000375881:A209T	ENSP00000375881:A209T	A	+	1	0	ALPP	232952858	0.743000	0.28239	0.326000	0.25389	0.024000	0.10985	0.952000	0.29149	0.266000	0.21894	0.298000	0.19748	GCT	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257032.3		+	ENST00000392027.2	Missense_Mutation	SNP	2 : 233244614 - 233244614 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	594	25
PCDHGA5	56110	broad.mit.edu	37	5	140746123	140746123	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140746123C>T	ENST00000518069.1	+	1	2226	c.2226C>T	c.(2224-2226)ggC>ggT	p.G742G	PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1			protocadherin gamma subfamily A, 5	NA										endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTTGTGGGCGTGGATGGGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	90	86			NA	NA	5		NA											NA				140746123		2203	4300	6503	SO:0001819	synonymous_variant			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485	56110	56110		Cadherins / Protocadherins : Clustered	8703	other	protocadherin	cadherin ME3	606292			NA	10380929	Standard	NM_018918	NM_018918	NA	Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.2226C>T	5.37:g.140746123C>T		NA		37	CCDS54925.1																																																																																			PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374742.1		+	ENST00000518069.1	Silent	SNP	5 : 140746123 - 140746123 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	840	176
ATR	545	broad.mit.edu	37	3	142212021	142212021	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142212021C>T	ENST00000350721.4	-	35	6152	c.6031G>A	c.(6031-6033)Gaa>Aaa	p.E2011K	ATR_ENST00000383101.3_Missense_Mutation_p.E1947K	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2011	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GCTGTTTCTTCCATAAATCGG	0.353		NA						Other conserved DNA damage response genes						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	97	98			NA	NA	3		NA											NA				142212021		2203	4300	6503	SO:0001583	missense			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054	545	545			882	protein-coding gene	gene with protein product	MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)	601215	ataxia telangiectasia and Rad3 related		NA	8978690, 8610130	Standard	NM_001184	NM_001184	NA	Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.6031G>A	3.37:g.142212021C>T	ENSP00000343741:p.Glu2011Lys	NA	Q59HB2|Q7KYL3|Q93051|Q9BXK4	37	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	36	5.767804	0.96914	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.69806	-0.43;-0.43	5.71	5.71	0.89125	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.000000	0.85682	D	0.000000	D	0.82328	0.5013	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.78976	-0.1991	10	0.29301	T	0.29	-7.6986	19.8635	0.96793	0.0:1.0:0.0:0.0	.	2011	Q13535	ATR_HUMAN	K	2011;1947	ENSP00000343741:E2011K;ENSP00000372581:E1947K	ENSP00000343741:E2011K	E	-	1	0	ATR	143694711	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.620000	0.83070	2.700000	0.92200	0.650000	0.86243	GAA	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353995.2		-	ENST00000350721.4	Missense_Mutation	SNP	3 : 142212021 - 142212021 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	236	53
PLEC	5339	broad.mit.edu	37	8	144991209	144991209	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144991209G>A	ENST00000322810.4	-	32	13360	c.13191C>T	c.(13189-13191)ccC>ccT	p.P4397P	PLEC_ENST00000436759.2_Silent_p.P4287P|PLEC_ENST00000527096.1_Silent_p.P4283P|PLEC_ENST00000354589.3_Silent_p.P4260P|PLEC_ENST00000345136.3_Silent_p.P4260P|PLEC_ENST00000356346.3_Silent_p.P4246P|PLEC_ENST00000357649.2_Silent_p.P4264P|PLEC_ENST00000398774.2_Silent_p.P4228P|PLEC_ENST00000354958.2_Silent_p.P4238P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4397	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGGAGACGGCGGGGCTGATGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	45	42			NA	NA	8		NA											NA				144991209		2025	4179	6204	SO:0001819	synonymous_variant			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209	5339	5339			9069	protein-coding gene	gene with protein product		601282	plectin 1, intermediate filament binding protein, 500kD, epidermolysis bullosa simplex 1 (Ogna), plectin 1, intermediate filament binding protein 500kDa	EBS1, PLEC1	NA	8633055, 8696340	Standard	NM_000445	XM_005250976	NA	Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.13191C>T	8.37:g.144991209G>A		NA	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	37	CCDS43772.1																																																																																			PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383281.1		-	ENST00000322810.4	Silent	SNP	8 : 144991209 - 144991209 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	40
RC3H1	149041	broad.mit.edu	37	1	173931058	173931058	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173931058G>A	ENST00000367696.2	-	12	2358	c.2007C>T	c.(2005-2007)caC>caT	p.H669H	RC3H1_ENST00000258349.4_Silent_p.H669H|RC3H1_ENST00000367694.2_Silent_p.H669H			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	669	Pro-rich.				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GGCCATCATAGTGAGATGGGT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													249	240	243			NA	NA	1		NA											NA				173931058		2203	4300	6503	SO:0001819	synonymous_variant			AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870	149041	149041		RING-type (C3HC4) zinc fingers, Zinc fingers, CCCH-type domain containing	29434	protein-coding gene	gene with protein product	KIAA2025 protein	609424	ring finger and CCCH-type zinc finger domains 1		NA	15917799	Standard	NM_172071	XM_005244918	NA	Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.2007C>T	1.37:g.173931058G>A		NA	B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	37	CCDS30940.1																																																																																			RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090733.2		-	ENST00000367696.2	Silent	SNP	1 : 173931058 - 173931058 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	836	235
ASB11	140456	broad.mit.edu	37	X	15301646	15301646	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15301646C>T	ENST00000380470.3	-	7	920	c.902G>A	c.(901-903)cGa>cAa	p.R301Q	ASB11_ENST00000480796.1_Missense_Mutation_p.R318Q|ASB11_ENST00000344384.4_Missense_Mutation_p.R297Q|ASB11_ENST00000537676.1_Missense_Mutation_p.R297Q	NM_001201583.1|NM_080873.2	NP_001188512.1|NP_543149.1	Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase	318	SOCS box.				intracellular signal transduction					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					TAGGAGGAATCGTTCGAGTGG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	GLN/ARG,GLN/ARG,GLN/ARG	0,3835		0,0,1632,571	231	187	202		890,902,953	1.1	1	X		202	1,6727		0,1,2427,1872	no	missense,missense,missense	ASB11	NM_001012428.2,NM_001201583.1,NM_080873.2	43,43,43	0,1,4059,2443	TT,TC,CC,C	NA	0.0149,0.0,0.0095	benign,benign,benign	297/303,301/307,318/324	15301646	1,10562	2203	4300	6503	SO:0001583	missense			AF425642	CCDS14164.1, CCDS35209.1, CCDS56596.1	Xp22.31	2014-02-10	2014-02-10		ENSG00000165192	ENSG00000165192	NA	140456		Ankyrin repeat domain containing	17186	protein-coding gene	gene with protein product		300626	ankyrin repeat and SOCS box-containing 11, ankyrin repeat and SOCS box containing 11		NA	24337577	Standard		NM_080873	NA	Approved	DKFZp779E2460	uc004cwp.2	Q8WXH4	OTTHUMG00000021173	ENST00000380470.3:c.902G>A	X.37:g.15301646C>T	ENSP00000369837:p.Arg301Gln	NA	Q3SYC4	37	CCDS56596.1	.	.	.	.	.	.	.	.	.	.	C	8.435	0.849570	0.17034	0.0	1.49E-4	ENSG00000165192	ENST00000537676;ENST00000380470;ENST00000344384;ENST00000480796	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.72	1.12	0.20585	SOCS protein, C-terminal (3);	0.373056	0.25344	N	0.031341	T	0.24160	0.0585	N	0.21583	0.68	0.20873	N	0.999834	B;B;B	0.16802	0.011;0.005;0.019	B;B;B	0.15484	0.013;0.006;0.01	T	0.15150	-1.0447	10	0.27082	T	0.32	-7.9194	7.6607	0.28402	0.0:0.2848:0.0:0.7152	.	301;318;297	Q7Z667;Q8WXH4;E9PEN1	.;ASB11_HUMAN;.	Q	297;301;297;318	ENSP00000445465:R297Q;ENSP00000369837:R301Q;ENSP00000343408:R297Q;ENSP00000417914:R318Q	ENSP00000343408:R297Q	R	-	2	0	ASB11	15211567	1.000000	0.71417	0.979000	0.43373	0.237000	0.25408	2.239000	0.43079	0.147000	0.19030	-0.296000	0.09543	CGA	ASB11-004	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354918.1		-	ENST00000380470.3	Missense_Mutation	SNP	X : 15301646 - 15301646 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	760	215
PCDH1	5097	broad.mit.edu	37	5	141243182	141243182	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141243182G>A	ENST00000287008.3	-	3	2861	c.2714C>T	c.(2713-2715)gCc>gTc	p.A905V	PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000536585.1_Missense_Mutation_p.A883V|PCDH1_ENST00000456271.1_Missense_Mutation_p.A893V|PCDH1_ENST00000394536.3_Missense_Mutation_p.A905V|PCDH1_ENST00000503492.1_Intron	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	905					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TCCCTTGGAGGCCTTGCCACT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(132;1609 1739 4190 14731 45037)							NA				0													99	100	100			NA	NA	5		NA											NA				141243182		2203	4300	6503	SO:0001583	missense			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453	5097	5097		Cadherins / Protocadherins : Non-clustered	8655	protein-coding gene	gene with protein product		603626	protocadherin 1 (cadherin-like 1)		NA	8508762	Standard	NM_032420	NM_032420	NA	Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000287008.3:c.2714C>T	5.37:g.141243182G>A	ENSP00000287008:p.Ala905Val	NA	Q8IUP2	37	CCDS4267.1	.	.	.	.	.	.	.	.	.	.	g	8.032	0.761876	0.15914	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	4.75	2.83	0.33086	Protocadherin (1);	0.408346	0.20264	N	0.095810	T	0.12646	0.0307	N	0.08118	0	0.29329	N	0.866811	B;B	0.29301	0.183;0.241	B;B	0.27887	0.084;0.037	T	0.06972	-1.0797	10	0.49607	T	0.09	.	2.4986	0.04628	0.1119:0.1948:0.5167:0.1765	.	905;905	Q08174;Q08174-2	PCDH1_HUMAN;.	V	905;905;893;916;883	ENSP00000287008:A905V;ENSP00000378043:A905V;ENSP00000403497:A893V;ENSP00000350122:A916V;ENSP00000438825:A883V	ENSP00000287008:A905V	A	-	2	0	PCDH1	141223366	0.876000	0.30132	1.000000	0.80357	0.988000	0.76386	1.925000	0.40074	1.179000	0.42884	0.457000	0.33378	GCC	PCDH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320587.2		-	ENST00000287008.3	Missense_Mutation	SNP	5 : 141243182 - 141243182 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	682	168
SEMA5A	9037	broad.mit.edu	37	5	9154665	9154665	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:9154665G>A	ENST00000382496.5	-	12	2081	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	472	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		p.F472F(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCAGGCCCACGAACAGGACAC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											84	77	80			NA	NA	5		NA											NA				9154665		2203	4300	6503	SO:0001819	synonymous_variant			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902	9037	9037		Semaphorins	10736	protein-coding gene	gene with protein product		609297		SEMAF	NA	8817451, 9464278	Standard		NM_003966	NA	Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1416C>T	5.37:g.9154665G>A		NA	D3DTC6|O60408|Q1RLL9	37	CCDS3875.1																																																																																			SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206989.2		-	ENST00000382496.5	Silent	SNP	5 : 9154665 - 9154665 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	527	104
SREBF2	6721	broad.mit.edu	37	22	42266957	42266957	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42266957G>A	ENST00000361204.4	+	4	951	c.785G>A	c.(784-786)gGc>gAc	p.G262D		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	262	Interaction with LMNA (By similarity).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AAGACAGATGGCAGCCCTGTT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	157	161			NA	NA	22		NA											NA				42266957		2203	4300	6503	SO:0001583	missense			U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911	6721	6721		Basic helix-loop-helix proteins	11290	protein-coding gene	gene with protein product		600481			NA	7903453	Standard	NM_004599	NM_004599	NA	Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.785G>A	22.37:g.42266957G>A	ENSP00000354476:p.Gly262Asp	NA	Q6GTH7|Q86V36|Q9UH04	37	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765744	0.90020	.	.	ENSG00000198911	ENST00000361204;ENST00000444813;ENST00000457567	T	0.55760	0.5	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.65471	0.2694	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57154	-0.7860	10	0.17369	T	0.5	-32.2682	19.365	0.94458	0.0:0.0:1.0:0.0	.	262	Q12772	SRBP2_HUMAN	D	262	ENSP00000354476:G262D	ENSP00000354476:G262D	G	+	2	0	SREBF2	40596903	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.525000	0.73795	2.577000	0.86979	0.455000	0.32223	GGC	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321956.1		+	ENST00000361204.4	Missense_Mutation	SNP	22 : 42266957 - 42266957 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1034	192
XIRP2	129446	broad.mit.edu	37	2	168103174	168103174	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168103174C>A	ENST00000409195.1	+	9	5361	c.5272C>A	c.(5272-5274)Ctg>Atg	p.L1758M	XIRP2_ENST00000409273.1_Missense_Mutation_p.L1536M|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.L1758M|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1583					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTTGGATTATCTGAAACAACT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	84	85			NA	NA	2		NA											NA				168103174		1867	4101	5968	SO:0001583	missense			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092	129446	129446			14303	protein-coding gene	gene with protein product	myomaxin	609778	cardiomyopathy associated 3	CMYA3	NA	17046827, 12203715, 15454575	Standard	NM_152381	NM_001079810	NA	Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5272C>A	2.37:g.168103174C>A	ENSP00000386840:p.Leu1758Met	NA	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845636	0.51164	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.11385	2.8;2.8;2.78	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.36276	0.0961	M	0.77103	2.36	0.58432	D	0.999991	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.74348	0.963;0.983;0.983	T	0.06661	-1.0814	10	0.66056	D	0.02	-7.2269	18.3299	0.90264	0.0:1.0:0.0:0.0	.	1583;1583;1536	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	M	1758;1758;1536	ENSP00000386840:L1758M;ENSP00000295237:L1758M;ENSP00000387255:L1536M	ENSP00000295237:L1758M	L	+	1	2	XIRP2	167811420	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	5.764000	0.68826	2.633000	0.89246	0.637000	0.83480	CTG	XIRP2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333547.1		+	ENST00000409195.1	Missense_Mutation	SNP	2 : 168103174 - 168103174 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	385	103
SIPA1	6494	broad.mit.edu	37	11	65408934	65408934	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65408934C>T	ENST00000527525.1	+	2	789	c.542C>T	c.(541-543)gCa>gTa	p.A181V	SIPA1_ENST00000394224.3_Missense_Mutation_p.A181V|SIPA1_ENST00000394227.3_Missense_Mutation_p.A181V|SIPA1_ENST00000534313.1_Missense_Mutation_p.A181V			Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	181					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GGTGGACCAGCATCCCCACCT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	54	53			NA	NA	11		NA											NA				65408934		2200	4297	6497	SO:0001583	missense			AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445	6494	6494			10885	protein-coding gene	gene with protein product		602180			NA	9027487	Standard	NM_006747	NM_006747	NA	Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000527525.1:c.542C>T	11.37:g.65408934C>T	ENSP00000433686:p.Ala181Val	NA	O14518|O60484|O60618|Q2YD83	37		.	.	.	.	.	.	.	.	.	.	C	2.543	-0.305860	0.05458	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	4.25	-0.778	0.10977	.	1.407170	0.05508	N	0.559664	T	0.53610	0.1807	N	0.00436	-1.5	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.44590	-0.9318	10	0.28530	T	0.3	-4.0933	8.0908	0.30799	0.0:0.3711:0.0:0.6289	.	181;181	F6RY50;Q96FS4	.;SIPA1_HUMAN	V	181	ENSP00000436269:A181V;ENSP00000433686:A181V;ENSP00000377771:A181V;ENSP00000377774:A181V	ENSP00000377771:A181V	A	+	2	0	SIPA1	65165510	0.000000	0.05858	0.000000	0.03702	0.156000	0.22039	0.035000	0.13797	-0.239000	0.09710	-0.300000	0.09419	GCA	SIPA1-002	NOVEL	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000390355.1		+	ENST00000527525.1	Missense_Mutation	SNP	11 : 65408934 - 65408934 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	381	63
ADCY3	109	broad.mit.edu	37	2	25095498	25095498	+	Missense_Mutation	SNP	G	G	T	rs114534287	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25095498G>T	ENST00000260600.5	-	2	1617	c.766C>A	c.(766-768)Ctg>Atg	p.L256M		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	256					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CGGGCCTCCAGGAAGGCCTTG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	83	83			NA	NA	2		NA											NA				25095498		2203	4300	6503	SO:0001583	missense			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	109	109	4.6.1.1	Adenylate cyclases	234	protein-coding gene	gene with protein product		600291			NA	9920776	Standard		NM_004036	NA	Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.766C>A	2.37:g.25095498G>T	ENSP00000260600:p.Leu256Met	NA	Q53T54|Q9UDB1	37	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852307	0.71719	.	.	ENSG00000138031	ENST00000260600;ENST00000415879;ENST00000427849;ENST00000433852	D;D;D	0.83419	-1.72;-1.61;-1.51	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000001	D	0.90466	0.7014	M	0.72576	2.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.91272	0.5045	10	0.66056	D	0.02	.	17.3652	0.87362	0.0:0.0:1.0:0.0	.	256;256	B7ZLX9;O60266	.;ADCY3_HUMAN	M	256;231;22;34	ENSP00000260600:L256M;ENSP00000399275:L22M;ENSP00000401455:L34M	ENSP00000260600:L256M	L	-	1	2	ADCY3	24949002	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.323000	0.59221	2.430000	0.82344	0.591000	0.81541	CTG	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000211574.2		-	ENST00000260600.5	Missense_Mutation	SNP	2 : 25095498 - 25095498 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1015	189
TBL2	26608	broad.mit.edu	37	7	72987671	72987671	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72987671C>T	ENST00000305632.5	-	4	818	c.577G>A	c.(577-579)Gac>Aac	p.D193N	TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Missense_Mutation_p.D157N|TBL2_ENST00000452475.1_Missense_Mutation_p.D193N	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	193										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				ATGCCAATGTCGATGACAGGC	0.522		NA											C	1	5e-04	NA	0.0028	2184	NA	0.9995	,	,	NA	3e-04	NA	NA	NA	7e-04	0.753	EXOME	NA	NA	8e-04	SNP								NA				0													166	145	152			NA	NA	7		NA											NA				72987671		2203	4300	6503	SO:0001583	missense			AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638	26608	26608		WD repeat domain containing	11586	protein-coding gene	gene with protein product	Williams-Beuren syndrome chromosome region 13	605842			NA	9860302, 10575226	Standard	NM_012453	XM_006715923	NA	Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.577G>A	7.37:g.72987671C>T	ENSP00000307260:p.Asp193Asn	NA	Q9UQE2	37	CCDS5551.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	4.618	0.114819	0.08831	.	.	ENSG00000106638	ENST00000305632;ENST00000541783;ENST00000432538;ENST00000452475	T;T;T	0.61040	0.14;0.14;0.14	5.48	4.35	0.52113	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.082171	0.85682	N	0.000000	T	0.21590	0.0520	N	0.01086	-1.025	0.30548	N	0.765783	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28490	-1.0042	10	0.02654	T	1	-24.6045	8.879	0.35363	0.0:0.0913:0.0:0.9087	.	157;193	E9PF19;Q9Y4P3	.;TBL2_HUMAN	N	193;193;157;193	ENSP00000307260:D193N;ENSP00000413979:D157N;ENSP00000407371:D193N	ENSP00000307260:D193N	D	-	1	0	TBL2	72625607	1.000000	0.71417	0.983000	0.44433	0.422000	0.31414	6.240000	0.72363	0.930000	0.37217	-0.367000	0.07326	GAC	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252233.3		-	ENST00000305632.5	Missense_Mutation	SNP	7 : 72987671 - 72987671 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	642	102
RAB33A	9363	broad.mit.edu	37	X	129318474	129318474	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129318474G>T	ENST00000257017.4	+	2	888	c.474G>T	c.(472-474)caG>caT	p.Q158H		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	158					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						TGAGGGAACAGATCCAGGTGC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	96	107			NA	NA	X		NA											NA				129318474		2203	4300	6503	SO:0001583	missense			D14889	CCDS14621.1	Xq26	2008-02-05			ENSG00000134594	ENSG00000134594	9363	9363		RAB, member RAS oncogene	9773	protein-coding gene	gene with protein product		300333			NA	7688322, 9512502	Standard	NM_004794	NM_004794	NA	Approved	RabS10	uc004evl.3	Q14088	OTTHUMG00000022391	ENST00000257017.4:c.474G>T	X.37:g.129318474G>T	ENSP00000257017:p.Gln158His	NA	Q5JUZ6|Q92465	37	CCDS14621.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222487	0.58668	.	.	ENSG00000134594	ENST00000257017	T	0.78126	-1.15	5.02	5.02	0.67125	Small GTP-binding protein domain (1);	0.170222	0.52532	D	0.000071	T	0.77837	0.4190	L	0.39245	1.2	0.45541	D	0.998494	P	0.52170	0.951	P	0.53450	0.726	T	0.80153	-0.1501	10	0.87932	D	0	-11.242	11.1761	0.48601	0.0869:0.0:0.9131:0.0	.	158	Q14088	RB33A_HUMAN	H	158	ENSP00000257017:Q158H	ENSP00000257017:Q158H	Q	+	3	2	RAB33A	129146155	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	1.430000	0.34914	2.076000	0.62316	0.436000	0.28706	CAG	RAB33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058246.1		+	ENST00000257017.4	Missense_Mutation	SNP	X : 129318474 - 129318474 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	279	65
ARHGEF6	9459	broad.mit.edu	37	X	135862894	135862894	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135862894G>A	ENST00000250617.6	-	1	1353	c.148C>T	c.(148-150)Cct>Tct	p.P50S		NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	50	CH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					ACAGAGCCAGGCATGAGTCTG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													173	163	166			NA	NA	X		NA											NA				135862894		2203	4300	6503	SO:0001583	missense			D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675	9459	9459		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	685	protein-coding gene	gene with protein product	Rac/Cdc42 guanine exchange factor (GEF) 6, PAK-interacting exchange factor, alpha, rho guanine nucleotide exchange factor 6	300267	mental retardation, X-linked 46	MRX46	NA	7584048, 9659915	Standard	NM_004840	NM_004840	NA	Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.148C>T	X.37:g.135862894G>A	ENSP00000250617:p.Pro50Ser	NA	A6NMW9|A8K6S7|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	37	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039400	0.75617	.	.	ENSG00000129675	ENST00000250617	D	0.97352	-4.35	5.91	5.91	0.95273	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98457	0.9486	M	0.90082	3.085	0.80722	D	1	P	0.45569	0.861	P	0.54856	0.762	D	0.98971	1.0801	10	0.62326	D	0.03	.	19.2692	0.94002	0.0:0.0:1.0:0.0	.	50	Q15052	ARHG6_HUMAN	S	50	ENSP00000250617:P50S	ENSP00000250617:P50S	P	-	1	0	ARHGEF6	135690560	1.000000	0.71417	0.986000	0.45419	0.708000	0.40852	7.652000	0.83633	2.502000	0.84385	0.436000	0.28706	CCT	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058511.2		-	ENST00000250617.6	Missense_Mutation	SNP	X : 135862894 - 135862894 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	826	237
CCT2	10576	broad.mit.edu	37	12	69987317	69987317	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69987317G>A	ENST00000543146.2	+	10	1247	c.765G>A	c.(763-765)caG>caA	p.Q255Q	CCT2_ENST00000544368.2_Silent_p.Q302Q|CCT2_ENST00000299300.6_Silent_p.Q302Q	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	302					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			ATCCTGAACAGCTCTTTGGTG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	101	103			NA	NA	12		NA											NA				69987317		2203	4300	6503	SO:0001819	synonymous_variant			AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02					10576	10576		Heat Shock Proteins / Chaperonins	1615	protein-coding gene	gene with protein product		605139			NA	9819444	Standard	NM_006431	NM_001198842	NA	Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000543146.2:c.765G>A	12.37:g.69987317G>A		NA	Q14D36|Q6IAT3	37	CCDS55843.1																																																																																			CCT2-005	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403828.1		+	ENST00000543146.2	Silent	SNP	12 : 69987317 - 69987317 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	428	21
VPS13A	23230	broad.mit.edu	37	9	79985233	79985233	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79985233G>T	ENST00000360280.3	+	64	8988	c.8728G>T	c.(8728-8730)Gtt>Ttt	p.V2910F	VPS13A_ENST00000376636.3_Missense_Mutation_p.V2871F|VPS13A_ENST00000376634.4_Missense_Mutation_p.V2910F|VPS13A_ENST00000357409.5_Missense_Mutation_p.V2910F	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2910					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TAAGGCACTAGTTGGTGGAGC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	95	96			NA	NA	9		NA											NA				79985233		2203	4300	6503	SO:0001583	missense			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969	23230	23230			1908	protein-coding gene	gene with protein product	chorein	605978	chorea acanthocytosis, vacuolar protein sorting 13A (yeast)	CHAC	NA	9382101, 11381253	Standard	NM_015186	NM_001018038	NA	Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.8728G>T	9.37:g.79985233G>T	ENSP00000353422:p.Val2910Phe	NA	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	9.673	1.147356	0.21288	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.54071	0.77;0.59;0.68;0.75	5.59	4.68	0.58851	.	0.057766	0.64402	D	0.000001	T	0.57272	0.2042	N	0.20530	0.585	0.80722	D	1	B;D;D;D	0.89917	0.189;1.0;0.999;1.0	B;D;D;D	0.97110	0.076;0.999;0.99;1.0	T	0.56402	-0.7985	9	.	.	.	.	14.8084	0.69974	0.0:0.2734:0.7266:0.0	.	2871;2910;2910;2910	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	F	2910;2871;2910;2910	ENSP00000365821:V2910F;ENSP00000365823:V2871F;ENSP00000353422:V2910F;ENSP00000349985:V2910F	.	V	+	1	0	VPS13A	79175053	1.000000	0.71417	0.932000	0.37286	0.994000	0.84299	3.027000	0.49697	1.329000	0.45376	0.467000	0.42956	GTT	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052753.2		+	ENST00000360280.3	Missense_Mutation	SNP	9 : 79985233 - 79985233 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	352	73
MRPL54	116541	broad.mit.edu	37	19	3762792	3762792	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3762792G>A	ENST00000330133.4	+	1	131	c.94G>A	c.(94-96)Gcc>Acc	p.A32T		NM_172251.2	NP_758455.1	Q6P161	RM54_HUMAN	mitochondrial ribosomal protein L54	32						mitochondrion|ribosome				breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGACTCCTGGCCCGGGATTA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	36	34			NA	NA	19		NA											NA				3762792		2203	4299	6502	SO:0001583	missense				CCDS12111.1	19p13.3	2012-11-14			ENSG00000183617	ENSG00000183617	116541	116541		Mitochondrial ribosomal proteins / large subunits	16685	protein-coding gene	gene with protein product		611858			NA	11551941	Standard	NM_172251	NM_172251	NA	Approved		uc002lyq.4	Q6P161	OTTHUMG00000180873	ENST00000330133.4:c.94G>A	19.37:g.3762792G>A	ENSP00000331849:p.Ala32Thr	NA		37	CCDS12111.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.949224	0.34377	.	.	ENSG00000183617	ENST00000330133	.	.	.	5.57	0.971	0.19698	.	0.742997	0.12541	N	0.459920	T	0.15176	0.0366	N	0.08118	0	0.09310	N	1	B	0.19817	0.039	B	0.12156	0.007	T	0.25152	-1.0140	9	0.21014	T	0.42	-5.2624	4.7361	0.12988	0.2703:0.0:0.5624:0.1673	.	32	Q6P161	RM54_HUMAN	T	32	.	ENSP00000331849:A32T	A	+	1	0	MRPL54	3713792	0.005000	0.15991	0.001000	0.08648	0.028000	0.11728	0.741000	0.26202	0.393000	0.25203	-0.367000	0.07326	GCC	MRPL54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453443.1		+	ENST00000330133.4	Missense_Mutation	SNP	19 : 3762792 - 3762792 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	486	55
KIDINS220	57498	broad.mit.edu	37	2	8910878	8910878	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8910878C>T	ENST00000256707.3	-	22	3114	c.2933G>A	c.(2932-2934)cGg>cAg	p.R978Q	KIDINS220_ENST00000427284.1_Missense_Mutation_p.R978Q|KIDINS220_ENST00000319688.5_Missense_Mutation_p.R979Q|KIDINS220_ENST00000418530.1_Missense_Mutation_p.R936Q|KIDINS220_ENST00000473731.1_Missense_Mutation_p.R978Q	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	978					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCATGAAGTCCGGTATGGCCA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	90	90			NA	NA	2		NA											NA				8910878		1881	4116	5997	SO:0001583	missense			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313	57498	57498		Ankyrin repeat domain containing	29508	protein-coding gene	gene with protein product	ankyrin repeat-rich membrane-spanning protein	615759			NA	10998417, 10574462	Standard	NM_020738	NM_020738	NA	Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.2933G>A	2.37:g.8910878C>T	ENSP00000256707:p.Arg978Gln	NA	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	37	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	C	35	5.436799	0.96168	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.80566	-0.31;-1.39;-1.32;-1.17;-1.32;-1.32;-1.19	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.91133	0.7208	M	0.84585	2.705	0.80722	D	1	D;D;D;D	0.89917	0.994;1.0;1.0;1.0	D;D;D;D	0.91635	0.921;0.999;0.999;0.997	D	0.92224	0.5787	10	0.87932	D	0	.	19.2476	0.93908	0.0:1.0:0.0:0.0	.	979;979;936;978	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	Q	725;662;978;978;936;978;979;979	ENSP00000420364:R725Q;ENSP00000256707:R978Q;ENSP00000411849:R978Q;ENSP00000414923:R936Q;ENSP00000418974:R978Q;ENSP00000419964:R979Q;ENSP00000319947:R979Q	ENSP00000256707:R978Q	R	-	2	0	KIDINS220	8828329	1.000000	0.71417	0.814000	0.32528	0.955000	0.61496	7.334000	0.79224	2.531000	0.85337	0.467000	0.42956	CGG	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323408.2		-	ENST00000256707.3	Missense_Mutation	SNP	2 : 8910878 - 8910878 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	107
B4GALT7	11285	broad.mit.edu	37	5	177034312	177034312	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177034312G>A	ENST00000029410.5	+	3	534	c.423G>A	c.(421-423)cgG>cgA	p.R141R		NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	141					fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process	Golgi cisterna membrane|integral to membrane	metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTTCAACCGGGCAGCGCTCA	0.647		NA									OREG0017092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	47	51			NA	NA	5		NA											NA				177034312		2203	4300	6503	SO:0001819	synonymous_variant			AB028600	CCDS4429.1	5q35.1-q35.3	2013-02-19	2012-07-18		ENSG00000027847	ENSG00000027847	11285	11285		Beta 4-glycosyltransferases	930	protein-coding gene	gene with protein product	galactosyltransferase I	604327			NA	10438455, 10473568	Standard	NM_007255	NM_007255	NA	Approved	XGALT-1, beta4Gal-T7	uc003mhy.3	Q9UBV7	OTTHUMG00000130851	ENST00000029410.5:c.423G>A	5.37:g.177034312G>A		1935	B3KN39|Q9UHN2	37	CCDS4429.1																																																																																			B4GALT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253421.1		+	ENST00000029410.5	Silent	SNP	5 : 177034312 - 177034312 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	80	18
KERA	11081	broad.mit.edu	37	12	91449741	91449741	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91449741T>G	ENST00000266719.3	-	2	565	c.318A>C	c.(316-318)aaA>aaC	p.K106N		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	106					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						AGTTGGTTATTTTGTTCTTGT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	134	138			NA	NA	12		NA											NA				91449741		2203	4299	6502	SO:0001583	missense			AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330	11081	11081		Proteoglycans / Extracellular Matrix : Small leucine-rich repeats	6309	protein-coding gene	gene with protein product	keratocan proteoglycan	603288		CNA2	NA	10565548, 10802664	Standard	NM_007035	NM_007035	NA	Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.318A>C	12.37:g.91449741T>G	ENSP00000266719:p.Lys106Asn	NA		37	CCDS9037.1	.	.	.	.	.	.	.	.	.	.	T	17.03	3.284185	0.59867	.	.	ENSG00000139330	ENST00000266719	T	0.54866	0.55	6.04	3.63	0.41609	.	0.041188	0.85682	D	0.000000	T	0.54303	0.1850	L	0.33189	0.99	0.58432	D	0.999993	D	0.69078	0.997	D	0.72625	0.978	T	0.51379	-0.8713	10	0.33141	T	0.24	-36.8212	5.5376	0.17020	0.1198:0.1838:0.0:0.6964	.	106	O60938	KERA_HUMAN	N	106	ENSP00000266719:K106N	ENSP00000266719:K106N	K	-	3	2	KERA	89973872	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.605000	0.36815	1.085000	0.41206	0.529000	0.55759	AAA	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407149.2		-	ENST00000266719.3	Missense_Mutation	SNP	12 : 91449741 - 91449741 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	582	24
WSB2	55884	broad.mit.edu	37	12	118480730	118480730	+	Translation_Start_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:118480730G>T	ENST00000441406.2	-	4	537	c.526C>A	c.(526-528)Ctg>Atg	p.L176M	WSB2_ENST00000315436.3_Missense_Mutation_p.L159M|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000535496.1_Missense_Mutation_p.L161M|WSB2_ENST00000542304.1_De_novo_Start_OutOfFrame|WSB2_ENST00000544233.1_Intron			Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	159					intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGAAGCTCAGATCTCTCACG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	110	110			NA	NA	12		NA											NA				118480730		2203	4300	6503	SO:0001583	missense			AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871	55884	55884		WD repeat domain containing	19222	protein-coding gene	gene with protein product			WD repeat and SOCS box-containing 2		NA	12076535	Standard	NM_018639	NM_018639	NA	Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000441406.2:c.526C>A	12.37:g.118480730G>T	ENSP00000409131:p.Leu176Met	NA	Q9NRX9	37		.	.	.	.	.	.	.	.	.	.	G	21.7	4.190714	0.78789	.	.	ENSG00000176871	ENST00000315436;ENST00000441406;ENST00000535496;ENST00000537945	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.75	2.72	0.32119	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.144057	0.48286	D	0.000191	T	0.62841	0.2461	L	0.38838	1.175	0.80722	D	1	D	0.63046	0.992	P	0.62740	0.906	T	0.59289	-0.7482	10	0.49607	T	0.09	-8.686	5.8458	0.18665	0.2445:0.137:0.6186:0.0	.	159	Q9NYS7	WSB2_HUMAN	M	159;176;161;161	ENSP00000319474:L159M;ENSP00000409131:L176M;ENSP00000439450:L161M;ENSP00000440386:L161M	ENSP00000319474:L159M	L	-	1	2	WSB2	116965113	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.339000	0.43965	0.283000	0.22279	0.644000	0.83932	CTG	WSB2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000401516.1		-	ENST00000441406.2	Missense_Mutation	SNP	12 : 118480730 - 118480730 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	576	103
LPHN2	23266	broad.mit.edu	37	1	82452608	82452608	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:82452608A>G	ENST00000370728.1	+	24	4165	c.3520A>G	c.(3520-3522)Aca>Gca	p.T1174A	LPHN2_ENST00000271029.4_Intron|LPHN2_ENST00000335786.5_Intron|LPHN2_ENST00000370730.1_Intron|LPHN2_ENST00000370721.1_Missense_Mutation_p.T1099A|LPHN2_ENST00000370727.1_Intron|LPHN2_ENST00000370725.1_Missense_Mutation_p.T1189A|LPHN2_ENST00000359929.3_Intron|LPHN2_ENST00000319517.6_Intron|LPHN2_ENST00000370717.2_Missense_Mutation_p.T1189A|LPHN2_ENST00000394879.1_Missense_Mutation_p.T1176A|LPHN2_ENST00000370715.1_Intron|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Missense_Mutation_p.T1176A|LPHN2_ENST00000370713.1_Intron			O95490	LPHN2_HUMAN	latrophilin 2	1174					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TTACCTACTAACAAACCCTCT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	99	100			NA	NA	1		NA											NA				82452608		876	1991	2867	SO:0001583	missense			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114	23266	23266		-, GPCR / Class B : Orphans	18582	protein-coding gene	gene with protein product		607018	latrophilin 1	LPHH1	NA	10760572	Standard	NM_012302	XR_248786	NA	Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.3520A>G	1.37:g.82452608A>G	ENSP00000359763:p.Thr1174Ala	NA	B1ALT8|B1ALT9|B1ALU0|O94882|Q5VX76|Q9UKY5|Q9UKY6	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.67|14.67	2.604319|2.604319	0.46423|0.46423	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000402328|ENST00000370721;ENST00000370728;ENST00000370725;ENST00000370723;ENST00000370717;ENST00000394879	.|T;T;T;T;T;T	.|0.71698	.|-0.58;-0.59;-0.56;-0.52;-0.56;-0.52	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77260|0.77260	0.4104|0.4104	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.80327|0.80327	-0.1429|-0.1429	4|7	.|0.62326	.|D	.|0.03	.|.	15.9173|15.9173	0.79531|0.79531	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	S|A	179|1099;1174;1189;1176;1189;1176	.|ENSP00000359756:T1099A;ENSP00000359763:T1174A;ENSP00000359760:T1189A;ENSP00000359758:T1176A;ENSP00000359752:T1189A;ENSP00000378344:T1176A	.|ENSP00000359752:T1189A	N|T	+|+	2|1	0|0	LPHN2|LPHN2	82225196|82225196	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.962000|8.962000	0.93254|0.93254	2.161000|2.161000	0.67846|0.67846	0.533000|0.533000	0.62120|0.62120	AAC|ACA	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000027188.1		+	ENST00000370728.1	Missense_Mutation	SNP	1 : 82452608 - 82452608 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	365	34
BMP5	653	broad.mit.edu	37	6	55739599	55739599	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55739599A>G	ENST00000370830.3	-	1	763	c.65T>C	c.(64-66)gTg>gCg	p.V22A	BMP5_ENST00000446683.2_Missense_Mutation_p.V22A	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	22					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TGCATAACCCACTAGAACCCA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	159	155			NA	NA	6		NA											NA				55739599		2203	4300	6503	SO:0001583	missense				CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175	653	653		Bone morphogenetic proteins, Endogenous ligands	1072	protein-coding gene	gene with protein product		112265			NA	1427904, 11580864	Standard		NM_021073	NA	Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.65T>C	6.37:g.55739599A>G	ENSP00000359866:p.Val22Ala	NA	Q9H547|Q9NTM5	37	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	A	11.30	1.599136	0.28534	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	T;T	0.71698	-0.59;-0.21	5.72	5.72	0.89469	.	0.153821	0.43110	D	0.000608	T	0.24967	0.0606	N	0.02539	-0.55	0.46586	D	0.999113	B;B	0.02656	0.0;0.0	B;B	0.09377	0.002;0.004	T	0.31696	-0.9934	10	0.07990	T	0.79	.	14.5622	0.68148	1.0:0.0:0.0:0.0	.	22;22	B4E0Y4;P22003	.;BMP5_HUMAN	A	22	ENSP00000359866:V22A;ENSP00000391818:V22A	ENSP00000359866:V22A	V	-	2	0	BMP5	55847558	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.979000	0.70508	2.172000	0.68678	0.533000	0.62120	GTG	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041000.1		-	ENST00000370830.3	Missense_Mutation	SNP	6 : 55739599 - 55739599 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1073	223
SH2B1	25970	broad.mit.edu	37	16	28883991	28883991	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28883991T>G	ENST00000545570.1	+	7	1119	c.932T>G	c.(931-933)cTt>cGt	p.L311R	SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000337120.5_Missense_Mutation_p.L621R|SH2B1_ENST00000538342.1_Missense_Mutation_p.L285R|SH2B1_ENST00000395532.4_Missense_Mutation_p.L621R|SH2B1_ENST00000322610.8_Missense_Mutation_p.L621R|SH2B1_ENST00000359285.5_Missense_Mutation_p.L621R			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	621	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|PH.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GATGTTGTCCTTGTCAGCTAT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	89	94			NA	NA	16		NA											NA				28883991		2197	4300	6497	SO:0001583	missense			AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14					25970	25970		Pleckstrin homology (PH) domain containing, SH2 domain containing	30417	protein-coding gene	gene with protein product	SH2-B homolog	608937			NA	11827956, 10594240	Standard	NM_015503	NM_001145812	NA	Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000545570.1:c.932T>G	16.37:g.28883991T>G	ENSP00000440354:p.Leu311Arg	NA	A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	37		.	.	.	.	.	.	.	.	.	.	t	19.48	3.835100	0.71373	.	.	ENSG00000178188	ENST00000322610;ENST00000545570;ENST00000359285;ENST00000538342;ENST00000395532;ENST00000337120	D;D;D;D;D;D	0.98221	-4.8;-4.8;-4.8;-4.8;-4.8;-4.8	5.1	5.1	0.69264	SH2 motif (1);	0.000000	0.64402	D	0.000007	D	0.98994	0.9657	M	0.89214	3.015	0.58432	D	0.999992	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;0.999	D	0.99694	1.1002	10	0.87932	D	0	-12.0959	13.8724	0.63626	0.0:0.0:0.0:1.0	.	285;311;621;621;621	B4DLN5;F5GXU7;Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;.;.;SH2B1_HUMAN	R	621;311;621;285;621;621	ENSP00000321221:L621R;ENSP00000440354:L311R;ENSP00000352232:L621R;ENSP00000438784:L285R;ENSP00000378903:L621R;ENSP00000337163:L621R	ENSP00000321221:L621R	L	+	2	0	SH2B1	28791492	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.370000	0.79589	1.915000	0.55452	0.456000	0.33151	CTT	SH2B1-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000432669.1		+	ENST00000545570.1	Missense_Mutation	SNP	16 : 28883991 - 28883991 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	364	16
KCNV2	169522	broad.mit.edu	37	9	2719093	2719093	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2719093G>A	ENST00000382082.3	+	1	1592	c.1354G>A	c.(1354-1356)Gcg>Acg	p.A452T		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	452						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.A452T(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GTGGTGGGCCGCGGTGAGTAC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											47	46	46			NA	NA	9		NA											NA				2719093		2203	4300	6503	SO:0001583	missense			AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263	169522	169522		Potassium channels, Voltage-gated ion channels / Potassium channels	19698	protein-coding gene	gene with protein product		607604			NA	12060745, 16382104	Standard	NM_133497	NM_133497	NA	Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.1354G>A	9.37:g.2719093G>A	ENSP00000371514:p.Ala452Thr	NA	Q5T6X0	37	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.614062	0.28712	.	.	ENSG00000168263	ENST00000382082	D	0.98313	-4.86	5.44	4.54	0.55810	Ion transport (1);	0.051120	0.85682	D	0.000000	D	0.96466	0.8847	N	0.20401	0.57	0.58432	D	0.999999	D	0.65815	0.995	P	0.55713	0.782	D	0.94666	0.7852	10	0.15499	T	0.54	.	14.1427	0.65329	0.0716:0.0:0.9284:0.0	.	452	Q8TDN2	KCNV2_HUMAN	T	452	ENSP00000371514:A452T	ENSP00000371514:A452T	A	+	1	0	KCNV2	2709093	1.000000	0.71417	0.968000	0.41197	0.989000	0.77384	6.784000	0.75084	1.299000	0.44798	0.650000	0.86243	GCG	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051528.1		+	ENST00000382082.3	Missense_Mutation	SNP	9 : 2719093 - 2719093 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	269	51
ARHGAP29	9411	broad.mit.edu	37	1	94670714	94670714	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94670714C>A	ENST00000260526.6	-	7	782	c.600G>T	c.(598-600)aaG>aaT	p.K200N	ARHGAP29_ENST00000370217.3_Missense_Mutation_p.K200N	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	200					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AGTCAGTGTTCTTTAACAGCA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	72	73			NA	NA	1		NA											NA				94670714		2202	4300	6502	SO:0001583	missense				CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962	9411	9411		Rho GTPase activating proteins	30207	protein-coding gene	gene with protein product		610496			NA	9305890	Standard	NM_004815	NM_004815	NA	Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.600G>T	1.37:g.94670714C>A	ENSP00000260526:p.Lys200Asn	NA	O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	37	CCDS748.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.615885	0.46631	.	.	ENSG00000137962	ENST00000260526;ENST00000370217	T;T	0.23950	1.91;1.88	5.87	2.99	0.34606	.	0.000000	0.40385	N	0.001118	T	0.17789	0.0427	L	0.46157	1.445	0.35628	D	0.810027	P;B	0.51933	0.949;0.23	P;B	0.49192	0.602;0.131	T	0.03212	-1.1060	10	0.72032	D	0.01	-24.0817	11.4447	0.50116	0.0:0.7044:0.0:0.2956	.	200;200	Q52LW3-2;Q52LW3	.;RHG29_HUMAN	N	200	ENSP00000260526:K200N;ENSP00000359237:K200N	ENSP00000260526:K200N	K	-	3	2	ARHGAP29	94443302	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	1.221000	0.32503	0.956000	0.37904	0.655000	0.94253	AAG	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029376.2		-	ENST00000260526.6	Missense_Mutation	SNP	1 : 94670714 - 94670714 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	203	12
PLCD4	84812	broad.mit.edu	37	2	219494329	219494329	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219494329G>A	ENST00000432688.1	+	8	1304	c.1062G>A	c.(1060-1062)ctG>ctA	p.L354L	PLCD4_ENST00000417849.1_Silent_p.L354L|PLCD4_ENST00000450993.2_Silent_p.L354L			Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	354	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GACACACCCTGACCTCCCGCA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	70	67			NA	NA	2		NA											NA				219494329		2100	4213	6313	SO:0001819	synonymous_variant			AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	84812	84812	3.1.4.11	EF-hand domain containing	9062	protein-coding gene	gene with protein product		605939			NA	10702683, 9056492	Standard		NM_032726	NA	Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000432688.1:c.1062G>A	2.37:g.219494329G>A		NA	Q53FS8	37																																																																																				PLCD4-007	NOVEL	non_canonical_conserved|not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000336882.1		+	ENST00000432688.1	Silent	SNP	2 : 219494329 - 219494329 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	199	16
ROS1	6098	broad.mit.edu	37	6	117709106	117709106	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117709106T>G	ENST00000368508.3	-	13	2049	c.1851A>C	c.(1849-1851)caA>caC	p.Q617H	ROS1_ENST00000368507.3_Missense_Mutation_p.Q612H|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	617	Fibronectin type-III 3.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CAGGAGGGTCTTGGGTGGATA	0.443		NA	T	GOPC, SDC4, SLC34A2, EZR, LRIG3	glioblastoma, NSCLC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		O, E	0													150	148	149			NA	NA	6		NA											NA				117709106		2203	4300	6503	SO:0001583	missense			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936	6098	6098		Fibronectin type III domain containing	10261	protein-coding gene	gene with protein product		165020	v-ros avian UR2 sarcoma virus oncogene homolog 1, v-ros UR2 sarcoma virus oncogene homolog 1 (avian), c-ros oncogene 1 , receptor tyrosine kinase		NA	1611909	Standard		NM_002944	NA	Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.1851A>C	6.37:g.117709106T>G	ENSP00000357494:p.Gln617His	NA	Q15368|Q5TDB5	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	T	15.77	2.932830	0.52866	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;T	0.84800	-1.9;1.08	5.39	0.293	0.15742	.	0.190179	0.37393	N	0.002110	T	0.75803	0.3899	L	0.47716	1.5	0.22903	N	0.998584	P	0.45348	0.856	P	0.51582	0.674	T	0.71374	-0.4612	10	0.66056	D	0.02	.	9.4166	0.38525	0.0:0.3978:0.0:0.6022	.	617	P08922	ROS1_HUMAN	H	617;612	ENSP00000357494:Q617H;ENSP00000357493:Q612H	ENSP00000357493:Q612H	Q	-	3	2	ROS1	117815799	0.015000	0.18098	0.207000	0.23584	0.900000	0.52787	-0.068000	0.11561	-0.094000	0.12374	0.459000	0.35465	CAA	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043464.1		-	ENST00000368508.3	Missense_Mutation	SNP	6 : 117709106 - 117709106 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	910	174
LRRC52	440699	broad.mit.edu	37	1	165513649	165513649	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:165513649G>A	ENST00000294818.1	+	1	406	c.116G>A	c.(115-117)tGc>tAc	p.C39Y	RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	39	LRRNT.					integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					GAAGTAATCTGCACAGGGAAG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	116	116			NA	NA	1		NA											NA				165513649		2203	4300	6503	SO:0001583	missense			AK098677	CCDS30930.1	1q23.3	2008-02-05			ENSG00000162763	ENSG00000162763	440699	440699			32156	protein-coding gene	gene with protein product		615218			NA		Standard	NM_001005214	NM_001005214	NA	Approved	FLJ25811	uc001gde.2	Q8N7C0	OTTHUMG00000034625	ENST00000294818.1:c.116G>A	1.37:g.165513649G>A	ENSP00000294818:p.Cys39Tyr	NA	A2RUN7|Q5T9K5	37	CCDS30930.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995109	0.54041	.	.	ENSG00000162763	ENST00000294818	D	0.99985	-11.65	4.91	4.91	0.64330	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99988	0.9998	H	0.95043	3.615	0.34146	D	0.667017	D	0.89917	1.0	D	0.97110	1.0	D	0.99976	1.2192	9	0.87932	D	0	.	15.6557	0.77133	0.0:0.0:1.0:0.0	.	39	Q8N7C0	LRC52_HUMAN	Y	39	ENSP00000294818:C39Y	ENSP00000294818:C39Y	C	+	2	0	LRRC52	163780273	1.000000	0.71417	0.919000	0.36401	0.422000	0.31414	8.837000	0.92110	2.561000	0.86390	0.563000	0.77884	TGC	LRRC52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083793.1		+	ENST00000294818.1	Missense_Mutation	SNP	1 : 165513649 - 165513649 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	734	53
OSR2	116039	broad.mit.edu	37	8	99961621	99961621	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99961621C>A	ENST00000297565.4	+	2	937	c.441C>A	c.(439-441)atC>atA	p.I147I	OSR2_ENST00000522510.1_Silent_p.I147I|OSR2_ENST00000523368.1_Silent_p.I147I|OSR2_ENST00000457907.2_Silent_p.I268I|OSR2_ENST00000435298.2_Silent_p.I147I	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	147					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			GTAGCCCCATCTCGGGCCTCA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	1,3861		0,1,1930	102	111	108		441,441	1.5	1	8		108	0,8280		0,0,4140	no	coding-synonymous,coding-synonymous	OSR2	NM_001142462.1,NM_053001.2	,	0,1,6070	AA,AC,CC	NA	0.0,0.0259,0.0082	,	147/313,147/277	99961621	1,12141	1931	4140	6071	SO:0001819	synonymous_variant			AY038072	CCDS47901.1, CCDS47902.1, CCDS69520.1	8q22.2	2013-10-17	2013-10-17			ENSG00000164920	116039	116039		Zinc fingers, C2H2-type	15830	protein-coding gene	gene with protein product		611297	odd-skipped related 2 (Drosophila)		NA		Standard	NM_053001	XM_005250779	NA	Approved	FLJ90037	uc003yir.3	Q8N2R0		ENST00000297565.4:c.441C>A	8.37:g.99961621C>A		NA	A8K626|Q96AM6|Q96LB6|Q96LB7	37	CCDS47901.1																																																																																			OSR2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379505.1		+	ENST00000297565.4	Silent	SNP	8 : 99961621 - 99961621 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	855	31
TNRC6B	23112	broad.mit.edu	37	22	40661292	40661292	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40661292C>T	ENST00000335727.9	+	5	1252	c.1058C>T	c.(1057-1059)gCg>gTg	p.A353V	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000454349.2_Missense_Mutation_p.A353V	NM_015088.2	NP_055903.2	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	NA					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						ATGGAAAATGCGGGTGTTAAT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,VAL/ALA,VAL/ALA	1,3833		0,1,1916	69	68	69		,1058,1058	5.1	1	22		69	2,8264		0,2,4131	no	intron,missense,missense	TNRC6B	NM_001024843.1,NM_001162501.1,NM_015088.2	,64,64	0,3,6047	TT,TC,CC	NA	0.0242,0.0261,0.0248	,probably-damaging,probably-damaging	,353/1834,353/1724	40661292	3,12097	1917	4133	6050	SO:0001583	missense			AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354	23112	23112		Trinucleotide (CAG) repeat containing	29190	protein-coding gene	gene with protein product		610740			NA		Standard		NM_015088	NA	Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000335727.9:c.1058C>T	22.37:g.40661292C>T	ENSP00000338371:p.Ala353Val	NA	B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	37	CCDS46713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.90|12.90	2.076522|2.076522	0.36662|0.36662	2.61E-4|2.61E-4	2.42E-4|2.42E-4	ENSG00000100354|ENSG00000100354	ENST00000454349;ENST00000400140;ENST00000335727|ENST00000446273	T;T|.	0.56611|.	0.45;0.45|.	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	0.118257|.	0.56097|.	D|.	0.000022|.	T|T	0.56702|0.56702	0.2003|0.2003	L|L	0.29908|0.29908	0.895|0.895	0.37338|0.37338	D|D	0.910273|0.910273	D;P;P|.	0.56968|.	0.978;0.702;0.883|.	B;B;B|.	0.40534|.	0.332;0.073;0.152|.	T|T	0.58418|0.58418	-0.7640|-0.7640	10|5	0.62326|.	D|.	0.03|.	-3.7136|-3.7136	17.4699|17.4699	0.87643|0.87643	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	353;353;353|.	Q9UPQ9;A8MYY3;Q9UPQ9-1|.	TNR6B_HUMAN;.;.|.	V|W	353|96	ENSP00000401946:A353V;ENSP00000338371:A353V|.	ENSP00000338371:A353V|.	A|R	+|+	2|1	0|2	TNRC6B|TNRC6B	38991238|38991238	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	1.997000|1.997000	0.40786|0.40786	2.369000|2.369000	0.80426|0.80426	0.650000|0.650000	0.86243|0.86243	GCG|CGG	TNRC6B-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321394.2		+	ENST00000335727.9	Missense_Mutation	SNP	22 : 40661292 - 40661292 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	403	17
UBE2U	148581	broad.mit.edu	37	1	64676474	64676474	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:64676474G>T	ENST00000371076.3	+	4	535	c.291G>T	c.(289-291)gaG>gaT	p.E97D		NM_152489.1	NP_689702.1	Q5VVX9	UBE2U_HUMAN	ubiquitin-conjugating enzyme E2U (putative)	97							ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(3)|lung(2)|skin(1)	6						ACAACCCTGAGAAGTGGAATA	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	76	78			NA	NA	1		NA											NA				64676474		2203	4300	6503	SO:0001583	missense			BC029895	CCDS627.1	1p31.3	2008-02-05			ENSG00000177414	ENSG00000177414	148581	148581		Ubiquitin-conjugating enzymes E2	28559	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152489	NM_152489	NA	Approved	MGC35130	uc001dbn.1	Q5VVX9	OTTHUMG00000009023	ENST00000371076.3:c.291G>T	1.37:g.64676474G>T	ENSP00000360116:p.Glu97Asp	NA	Q8N1D4	37	CCDS627.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.473912	0.01044	.	.	ENSG00000177414	ENST00000371077;ENST00000371076	T;T	0.47528	0.84;0.84	5.5	-11.0	0.00169	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	4.517410	0.00166	N	0.000008	T	0.06280	0.0162	N	0.17564	0.495	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13442	-1.0509	10	0.18710	T	0.47	.	0.9198	0.01312	0.3285:0.1971:0.3413:0.1331	.	97	Q5VVX9	UBE2U_HUMAN	D	97	ENSP00000360117:E97D;ENSP00000360116:E97D	ENSP00000360116:E97D	E	+	3	2	UBE2U	64449062	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.616000	0.00881	-2.767000	0.00367	-1.083000	0.02208	GAG	UBE2U-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025005.1		+	ENST00000371076.3	Missense_Mutation	SNP	1 : 64676474 - 64676474 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	219	35
PLVAP	83483	broad.mit.edu	37	19	17487909	17487909	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17487909G>A	ENST00000252590.4	-	1	250	c.189C>T	c.(187-189)acC>acT	p.T63T		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	63						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCGGCGCTCGGTGGCCTGCA	0.597		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	92	77	82		189	-4.9	0.9	19		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PLVAP	NM_031310.1		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		63/443	17487909	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300	83483	83483			13635	protein-coding gene	gene with protein product	fenestrated-endothelial linked structure protein; PV-1 protein	607647			NA	11401446	Standard	NM_031310	NM_031310	NA	Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.189C>T	19.37:g.17487909G>A		NA	Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	37	CCDS32952.1																																																																																			PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463655.1		-	ENST00000252590.4	Silent	SNP	19 : 17487909 - 17487909 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	282	59
LDB1	8861	broad.mit.edu	37	10	103869426	103869426	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103869426C>A	ENST00000361198.5	-	8	1178	c.555G>T	c.(553-555)caG>caT	p.Q185H	LDB1_ENST00000425280.1_Missense_Mutation_p.Q221H	NM_003893.4	NP_003884.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	221					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		GATCCAACATCTGGGGGTCTT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	98	97			NA	NA	10		NA											NA				103869426		2203	4300	6503	SO:0001583	missense			AF068652	CCDS7528.1, CCDS44472.1	10q24-q25	2008-08-01			ENSG00000198728	ENSG00000198728	8861	8861			6532	protein-coding gene	gene with protein product	carboxy terminal LIM domain protein 2	603451			NA	9503020, 9799849	Standard	NM_001113407	NM_003893	NA	Approved	NLI, CLIM2	uc009xwz.3	Q86U70	OTTHUMG00000018950	ENST00000361198.5:c.555G>T	10.37:g.103869426C>A	ENSP00000354616:p.Gln185His	NA	B4DUC4|O75479|O96010|Q1EQX1|Q9UGM4	37	CCDS7528.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318692	0.60524	.	.	ENSG00000198728	ENST00000361198;ENST00000425280	.	.	.	5.67	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.63177	0.2489	L	0.29908	0.895	0.80722	D	1	D;D	0.63880	0.991;0.993	D;P	0.78314	0.991;0.77	T	0.64241	-0.6454	9	0.51188	T	0.08	-21.565	10.9601	0.47381	0.0:0.8573:0.0:0.1427	.	221;185	Q86U70;Q86U70-3	LDB1_HUMAN;.	H	185;221	.	ENSP00000354616:Q185H	Q	-	3	2	LDB1	103859416	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.162000	0.42367	1.416000	0.47057	-0.448000	0.05591	CAG	LDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050027.1		-	ENST00000361198.5	Missense_Mutation	SNP	10 : 103869426 - 103869426 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	58
FLNC	2318	broad.mit.edu	37	7	128481264	128481264	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128481264T>C	ENST00000325888.8	+	12	2115	c.1854T>C	c.(1852-1854)tgT>tgC	p.C618C	FLNC_ENST00000346177.6_Silent_p.C618C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	618					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGATCGAATGTGACGACAAGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	129	127			NA	NA	7		NA											NA				128481264		2138	4230	6368	SO:0001819	synonymous_variant			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591	2318	2318			3756	protein-coding gene	gene with protein product	actin binding protein 280	102565	filamin C, gamma (actin binding protein 280)	FLN2	NA	7689010, 8088838	Standard		NM_001458	NA	Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1854T>C	7.37:g.128481264T>C		NA	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	37	CCDS43644.1																																																																																			FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059948.3		+	ENST00000325888.8	Silent	SNP	7 : 128481264 - 128481264 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	673	120
VCX3B	425054	broad.mit.edu	37	X	8434386	8434386	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:8434386A>G	ENST00000381032.1	+	3	1010	c.703A>G	c.(703-705)Agt>Ggt	p.S235G	VCX3B_ENST00000381029.4_Missense_Mutation_p.S203G|VCX3B_ENST00000440654.2_Intron|VCX3B_ENST00000444481.1_Missense_Mutation_p.S205G|VCX3B_ENST00000453306.1_Intron	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	81						nucleolus				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						AGAACCACTGAGTCAGGAGAG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	219	173			NA	NA	X		NA											NA				8434386		2160	4193	6353	SO:0001583	missense				CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642	NA	425054			31838	protein-coding gene	gene with protein product					NA		Standard		NM_001001888	NA	Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.703A>G	X.37:g.8434386A>G	ENSP00000370420:p.Ser235Gly	NA	Q4KN12	37	CCDS48077.2	.	.	.	.	.	.	.	.	.	.	N	7.916	0.737629	0.15574	.	.	ENSG00000205642	ENST00000381032;ENST00000444481;ENST00000381029	T;T;T	0.18502	2.21;2.21;2.21	0.601	-0.859	0.10685	.	.	.	.	.	T	0.07052	0.0179	N	0.08118	0	0.09310	N	0.999998	B	0.10296	0.003	B	0.06405	0.002	T	0.35251	-0.9796	9	0.34782	T	0.22	.	3.9426	0.09334	0.7175:0.0:0.2825:0.0	.	205	Q9H321	VCX3B_HUMAN	G	235;205;203	ENSP00000370420:S235G;ENSP00000414780:S205G;ENSP00000370417:S203G	ENSP00000370417:S203G	S	+	1	0	VCX3B	8394386	0.005000	0.15991	0.006000	0.13384	0.028000	0.11728	0.093000	0.15086	-0.284000	0.09102	0.354000	0.21935	AGT	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055691.1		+	ENST00000381032.1	Missense_Mutation	SNP	X : 8434386 - 8434386 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	960	266
CCT5	22948	broad.mit.edu	37	5	10250488	10250488	+	Silent	SNP	T	T	C	rs111848991		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10250488T>C	ENST00000280326.4	+	1	456	c.36T>C	c.(34-36)taT>taC	p.Y12Y	CCT5_ENST00000515390.1_Silent_p.Y12Y|CCT5_ENST00000503026.1_Intron	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	12					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						TCGATGAATATGGGCGCCCTT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								T		1,4405	2.1+/-5.4	0,1,2202	81	63	69		36	5.4	1	5	dbSNP_132	69	0,8600		0,0,4300	no	coding-synonymous	CCT5	NM_012073.3		0,1,6502	CC,CT,TT	NA	0.0,0.0227,0.0077		12/542	10250488	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753	22948	22948		Heat Shock Proteins / Chaperonins	1618	protein-coding gene	gene with protein product		610150			NA		Standard		NM_012073	NA	Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.36T>C	5.37:g.10250488T>C		NA	A8JZY8	37	CCDS3877.1																																																																																			CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253688.2		+	ENST00000280326.4	Silent	SNP	5 : 10250488 - 10250488 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	286	43
TRAF5	7188	broad.mit.edu	37	1	211545602	211545602	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:211545602C>T	ENST00000261464.5	+	11	1286	c.1232C>T	c.(1231-1233)aCa>aTa	p.T411I	TRAF5_ENST00000367004.3_Missense_Mutation_p.T411I|TRAF5_ENST00000427925.2_Missense_Mutation_p.T305I|TRAF5_ENST00000336184.2_Missense_Mutation_p.T411I	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	411	MATH.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TGGAAGGTGACAGATTACAAG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	133	130			NA	NA	1		NA											NA				211545602		2203	4300	6503	SO:0001583	missense			AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512	7188	7188		RING-type (C3HC4) zinc fingers	12035	protein-coding gene	gene with protein product		602356			NA	9126477	Standard	NM_004619	NM_001033910	NA	Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.1232C>T	1.37:g.211545602C>T	ENSP00000261464:p.Thr411Ile	NA		37	CCDS1497.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.367647	0.42003	.	.	ENSG00000082512	ENST00000336184;ENST00000427925;ENST00000261464;ENST00000367004	T;T;T;T	0.37584	2.05;1.19;2.05;2.05	5.16	5.16	0.70880	TRAF-type (1);TRAF-like (1);MATH (2);	0.299246	0.36703	N	0.002445	T	0.42607	0.1210	M	0.76170	2.325	0.34214	D	0.674685	P;B;P	0.48294	0.908;0.437;0.698	B;B;B	0.44224	0.436;0.3;0.444	T	0.60525	-0.7246	10	0.39692	T	0.17	-19.4905	13.3653	0.60680	0.0:0.924:0.0:0.076	.	305;422;411	F5H1P7;B4E0A2;O00463	.;.;TRAF5_HUMAN	I	411;305;411;411	ENSP00000336825:T411I;ENSP00000389891:T305I;ENSP00000261464:T411I;ENSP00000355971:T411I	ENSP00000261464:T411I	T	+	2	0	TRAF5	209612225	0.884000	0.30299	1.000000	0.80357	0.999000	0.98932	1.393000	0.34497	2.561000	0.86390	0.650000	0.86243	ACA	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089825.1		+	ENST00000261464.5	Missense_Mutation	SNP	1 : 211545602 - 211545602 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1134	303
EP400	57634	broad.mit.edu	37	12	132549269	132549269	+	Silent	SNP	G	G	A	rs144085795		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132549269G>A	ENST00000333577.4	+	49	8608	c.8499G>A	c.(8497-8499)ccG>ccA	p.P2833P	EP400_ENST00000389561.2_Silent_p.P2797P|EP400_ENST00000389562.2_Silent_p.P2796P|EP400_ENST00000330386.6_Silent_p.P2716P|EP400_ENST00000332482.4_Silent_p.P2760P			Q96L91	EP400_HUMAN	E1A binding protein p400	2833	Poly-Pro.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGCCCCCACCGCCACAGGCCC	0.587		NA											G	13	0.01	NA	NA	2184	0.02	0.9991	,	,	NA	0.0011	NA	NA	NA	0.0064	0.9372	LOWCOV,EXOME	NA	NA	0.0068	SNP								NA				0								G		1,4403		0,1,2201	31	46	41		8391	-6.3	0.1	12	dbSNP_134	41	1,8593		0,1,4296	no	coding-synonymous	EP400	NM_015409.4		0,2,6497	AA,AG,GG	NA	0.0116,0.0227,0.0154		2797/3124	132549269	2,12996	2202	4297	6499	SO:0001819	synonymous_variant			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495	57634	57634			11958	protein-coding gene	gene with protein product		606265	trinucleotide repeat containing 12	TNRC12	NA	9225980, 11509179	Standard	NM_015409	NM_015409	NA	Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8499G>A	12.37:g.132549269G>A		NA	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	37																																																																																				EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding			+	ENST00000333577.4	Silent	SNP	12 : 132549269 - 132549269 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	632	98
PKD1L1	168507	broad.mit.edu	37	7	47979804	47979804	+	Missense_Mutation	SNP	C	C	T	rs145121666		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47979804C>T	ENST00000289672.2	-	3	321	c.271G>A	c.(271-273)Gct>Act	p.A91T		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	91					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TGCCTGGAAGCTGATGAGGAT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	134	142			NA	NA	7		NA											NA				47979804		2203	4300	6503	SO:0001583	missense			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683	168507	168507			18053	protein-coding gene	gene with protein product	polycystin-1L1	609721			NA	11863367	Standard	NM_138295	NM_138295	NA	Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.271G>A	7.37:g.47979804C>T	ENSP00000289672:p.Ala91Thr	NA	Q6UWK1	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.899348	0.33535	.	.	ENSG00000158683	ENST00000289672	T	0.23754	1.89	2.82	0.899	0.19271	.	.	.	.	.	T	0.12305	0.0299	N	0.08118	0	0.09310	N	1	P	0.36065	0.535	B	0.34301	0.179	T	0.19647	-1.0299	9	0.42905	T	0.14	-0.8432	8.89	0.35427	0.0:0.5528:0.4472:0.0	.	91	Q8TDX9	PK1L1_HUMAN	T	91	ENSP00000289672:A91T	ENSP00000289672:A91T	A	-	1	0	PKD1L1	47946329	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.282000	0.18829	0.231000	0.21079	-0.156000	0.13503	GCT	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340974.1		-	ENST00000289672.2	Missense_Mutation	SNP	7 : 47979804 - 47979804 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	462	79
SPATA33	124045	broad.mit.edu	37	16	89735711	89735711	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89735711C>T	ENST00000301031.4	+	3	226	c.226C>T	c.(226-228)Caa>Taa	p.Q76*	SPATA33_ENST00000579310.1_Nonsense_Mutation_p.Q77*	NM_001271908.1|NM_153025.1	NP_001258837.1|NP_694570.1			spermatogenesis associated 33	NA											NA						TGATGTAAAGCAAAAGTCCAG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	70	70			NA	NA	16		NA											NA				89735711		2198	4300	6498	SO:0001587	stop_gained			AK056168	CCDS10983.1, CCDS62012.1, CCDS73929.1	16q24.3	2013-07-16	2013-07-05	2013-07-05	ENSG00000167523	ENSG00000167523	124045	124045			26463	protein-coding gene	gene with protein product		615409	chromosome 16 open reading frame 55	C16orf55	NA	23844118	Standard	NM_153025	NM_153025	NA	Approved	FLJ31606	uc010vpk.2	Q96N06	OTTHUMG00000138048	ENST00000301031.4:c.226C>T	16.37:g.89735711C>T	ENSP00000301031:p.Gln76*	NA		37	CCDS10983.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.789969	0.50102	.	.	ENSG00000167523	ENST00000301031;ENST00000457689	.	.	.	3.36	1.27	0.21489	.	0.972870	0.08356	N	0.958429	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-0.8505	5.0447	0.14477	0.173:0.3363:0.4907:0.0	.	.	.	.	X	76;77	.	ENSP00000301031:Q76X	Q	+	1	0	C16orf55	88263212	0.000000	0.05858	0.275000	0.24674	0.341000	0.28922	-0.211000	0.09332	0.547000	0.28938	0.579000	0.79373	CAA	SPATA33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269924.2		+	ENST00000301031.4	Nonsense_Mutation	SNP	16 : 89735711 - 89735711 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	396	80
MCM6	4175	broad.mit.edu	37	2	136602208	136602208	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136602208G>T	ENST00000264156.2	-	16	2316	c.2256C>A	c.(2254-2256)taC>taA	p.Y752*	MCM6_ENST00000492091.1_5'UTR	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	752					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)	TTTCCTTCAAGTACCAGTTAA	0.368		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													152	145	147			NA	NA	2		NA											NA				136602208		2203	4300	6503	SO:0001587	stop_gained				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.2256C>A	2.37:g.136602208G>T	ENSP00000264156:p.Tyr752*	NA	B2R6H2|Q13504|Q99859	37	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	G	36	5.611460	0.96637	.	.	ENSG00000076003	ENST00000264156	.	.	.	5.86	4.06	0.47325	.	0.111455	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.1339	8.1078	0.30896	0.2921:0.0:0.7079:0.0	.	.	.	.	X	752	.	ENSP00000264156:Y752X	Y	-	3	2	MCM6	136318678	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.176000	0.42500	1.488000	0.48433	0.650000	0.86243	TAC	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254658.1		-	ENST00000264156.2	Nonsense_Mutation	SNP	2 : 136602208 - 136602208 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	535	45
SLC35F5	80255	broad.mit.edu	37	2	114476770	114476770	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:114476770C>A	ENST00000245680.2	-	14	1870	c.1457G>T	c.(1456-1458)aGa>aTa	p.R486I	SLC35F5_ENST00000470204.2_5'UTR	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	486					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						AGCAAATATTCTTCTGATTCC	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	76	76			NA	NA	2		NA											NA				114476770		2202	4299	6501	SO:0001583	missense			AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084	80255	80255		Solute carriers	23617	protein-coding gene	gene with protein product					NA		Standard	NM_025181	XM_005263799	NA	Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.1457G>T	2.37:g.114476770C>A	ENSP00000245680:p.Arg486Ile	NA	Q9H6P8|Q9H7D8	37	CCDS2119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	4.001974|4.001974	0.74932|0.74932	.|.	.|.	ENSG00000115084|ENSG00000115084	ENST00000420066|ENST00000245680;ENST00000409106	.|T;T	.|0.47177	.|0.85;0.85	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.56761	.|0.2007	N|N	0.20685|0.20685	0.6|0.6	0.80722|0.80722	D|D	1|1	.|D	.|0.65815	.|0.995	.|D	.|0.75484	.|0.986	.|T	.|0.58493	.|-0.7627	.|10	.|0.46703	.|T	.|0.11	-16.8411|-16.8411	19.592|19.592	0.95518|0.95518	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|486	.|Q8WV83	.|S35F5_HUMAN	X|I	18|486;480	.|ENSP00000245680:R486I;ENSP00000386754:R480I	.|ENSP00000245680:R486I	E|R	-|-	1|2	0|0	SLC35F5|SLC35F5	114193240|114193240	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.601000|7.601000	0.82783|0.82783	2.628000|2.628000	0.89032|0.89032	0.655000|0.655000	0.94253|0.94253	GAA|AGA	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254150.1		-	ENST00000245680.2	Missense_Mutation	SNP	2 : 114476770 - 114476770 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	333	44
LPHN1	22859	broad.mit.edu	37	19	14267880	14267880	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14267880C>T	ENST00000340736.6	-	16	3135	c.2838G>A	c.(2836-2838)gtG>gtA	p.V946V	CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Silent_p.V941V	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	946					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGTAGAGGTGCACGCCCTCCA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	51	51			NA	NA	19		NA											NA				14267880		2203	4300	6503	SO:0001819	synonymous_variant			AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071	22859	22859		-, GPCR / Class B : Orphans	20973	protein-coding gene	gene with protein product					NA	10994649	Standard	NM_014921	NM_014921	NA	Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.2838G>A	19.37:g.14267880C>T		NA	Q96IE7|Q9BU07|Q9HAR3	37	CCDS32928.1																																																																																			LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459696.1		-	ENST00000340736.6	Silent	SNP	19 : 14267880 - 14267880 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	247	45
XPO4	64328	broad.mit.edu	37	13	21383952	21383952	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21383952G>A	ENST00000255305.6	-	10	1399	c.1328C>T	c.(1327-1329)gCt>gTt	p.A443V	XPO4_ENST00000400602.2_Missense_Mutation_p.A443V			Q9C0E2	XPO4_HUMAN	exportin 4	443					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		GCCATCTGGAGCAGCTAGGTG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	73	74			NA	NA	13		NA											NA				21383952		1838	4091	5929	SO:0001583	missense			AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953	64328	64328		Exportins	17796	protein-coding gene	gene with protein product		611449			NA	11214970, 10944119	Standard	NM_022459	NM_022459	NA	Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.1328C>T	13.37:g.21383952G>A	ENSP00000255305:p.Ala443Val	NA	Q5VUZ5|Q8N3V6|Q9H934	37	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382149	0.82792	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.47869	0.83;0.83	5.98	5.98	0.97165	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.46908	0.1417	L	0.55481	1.735	0.80722	D	1	B	0.28880	0.226	B	0.29524	0.103	T	0.34054	-0.9844	10	0.16420	T	0.52	-23.9262	20.4434	0.99119	0.0:0.0:1.0:0.0	.	443	Q9C0E2	XPO4_HUMAN	V	443;313;443	ENSP00000383444:A443V;ENSP00000255305:A443V	ENSP00000255305:A443V	A	-	2	0	XPO4	20281952	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.406000	0.97321	2.838000	0.97847	0.655000	0.94253	GCT	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044096.1		-	ENST00000255305.6	Missense_Mutation	SNP	13 : 21383952 - 21383952 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	197	27
PITPNM3	83394	broad.mit.edu	37	17	6376098	6376098	+	Silent	SNP	G	G	A	rs148138690		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6376098G>A	ENST00000262483.8	-	11	1395	c.1308C>T	c.(1306-1308)tgC>tgT	p.C436C	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Silent_p.C400C	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	NA	DDHD.				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		AGGGGTCTGCGCAATGGAAGA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	1,4405	2.1+/-5.4	0,1,2202	61	60	60		1200,1308	-10.2	0.7	17	dbSNP_134	60	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PITPNM3	NM_001165966.1,NM_031220.3	,	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	,	400/939,436/975	6376098	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622	83394	83394		GPCR / Class A : Chemokine receptors : Atypical	21043	protein-coding gene	gene with protein product	atypical chemokine receptor 6	608921	cone rod dystrophy 5	CORD5	NA	10022914	Standard	NM_031220	NM_031220	NA	Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.1308C>T	17.37:g.6376098G>A		NA	A1A5D0|Q59GH9|Q9NPQ4	37	CCDS11076.1																																																																																			PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219824.2		-	ENST00000262483.8	Silent	SNP	17 : 6376098 - 6376098 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	274	52
TMEM109	79073	broad.mit.edu	37	11	60689496	60689496	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60689496C>T	ENST00000227525.3	+	4	994	c.591C>T	c.(589-591)gcC>gcT	p.A197A	RP11-881M11.4_ENST00000543907.1_RNA|TMEM109_ENST00000536171.1_Silent_p.A197A	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	197						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						TCCTCTACGCCCTGCTGAGCC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	44	43			NA	NA	11		NA											NA				60689496		2203	4298	6501	SO:0001819	synonymous_variant				CCDS7996.1	11q12.2	2005-12-22				ENSG00000110108	79073	79073			28771	protein-coding gene	gene with protein product					NA	8619474, 9110174	Standard	NM_024092	NM_024092	NA	Approved	MGC5508	uc001nqg.3	Q9BVC6		ENST00000227525.3:c.591C>T	11.37:g.60689496C>T		NA		37	CCDS7996.1																																																																																			TMEM109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396343.1		+	ENST00000227525.3	Silent	SNP	11 : 60689496 - 60689496 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	459	72
OR13C9	286362	broad.mit.edu	37	9	107379810	107379810	+	Missense_Mutation	SNP	G	G	T	rs76552310		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107379810G>T	ENST00000259362.1	-	1	675	c.676C>A	c.(676-678)Ctc>Atc	p.L226I		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TGAATCTTGAGGATGCTGGAA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	74	75			NA	NA	9		NA											NA				107379810		2202	4300	6502	SO:0001583	missense				CCDS35093.1	9q31.1	2013-09-24			ENSG00000136839	ENSG00000136839	286362	286362		GPCR / Class A : Olfactory receptors	15104	protein-coding gene	gene with protein product					NA		Standard		NM_001001956	NA	Approved		uc011lvr.2	Q8NGT0	OTTHUMG00000020416	ENST00000259362.1:c.676C>A	9.37:g.107379810G>T	ENSP00000259362:p.Leu226Ile	NA	Q6IFL2	37	CCDS35093.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.544183	0.27563	.	.	ENSG00000136839	ENST00000259362	T	0.00302	8.2	4.46	0.413	0.16401	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41500	D	0.000864	T	0.00328	0.0010	M	0.86805	2.84	0.09310	N	1	B	0.25007	0.116	B	0.35813	0.211	T	0.43475	-0.9389	10	0.56958	D	0.05	.	3.2491	0.06807	0.2734:0.0:0.4165:0.3101	.	226	Q8NGT0	O13C9_HUMAN	I	226	ENSP00000259362:L226I	ENSP00000259362:L226I	L	-	1	0	OR13C9	106419631	0.014000	0.17966	0.039000	0.18376	0.929000	0.56500	0.301000	0.19174	0.138000	0.18790	0.643000	0.83706	CTC	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053490.1		-	ENST00000259362.1	Missense_Mutation	SNP	9 : 107379810 - 107379810 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	376	66
SLC26A8	116369	broad.mit.edu	37	6	35967781	35967781	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35967781G>A	ENST00000490799.1	-	4	786	c.433C>T	c.(433-435)Caa>Taa	p.Q145*	SLC26A8_ENST00000394602.2_Nonsense_Mutation_p.Q145*|SLC26A8_ENST00000355574.2_Nonsense_Mutation_p.Q145*	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	145					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						ATGGACATTTGATGACACGAT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	163	162			NA	NA	6		NA											NA				35967781		2203	4300	6503	SO:0001587	stop_gained			AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053	116369	116369		Solute carriers	14468	protein-coding gene	gene with protein product		608480	solute carrier family 26, member 8		NA	11834742, 11829495	Standard		NM_001193476	NA	Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.433C>T	6.37:g.35967781G>A	ENSP00000417638:p.Gln145*	NA	Q5JVR5|Q812C7|Q8TC65|Q96MA0|Q96PK8	37	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	G	39	7.329593	0.98214	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	.	.	.	5.4	5.4	0.78164	.	0.163089	0.43260	D	0.000589	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.0345	0.71734	0.0:0.0:1.0:0.0	.	.	.	.	X	145	.	ENSP00000347778:Q145X	Q	-	1	0	SLC26A8	36075759	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.192000	0.65115	2.694000	0.91930	0.655000	0.94253	CAA	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040325.2		-	ENST00000490799.1	Nonsense_Mutation	SNP	6 : 35967781 - 35967781 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	984	95
CCDC114	93233	broad.mit.edu	37	19	48806314	48806314	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48806314C>T	ENST00000315396.7	-	9	1598	c.916G>A	c.(916-918)Gag>Aag	p.E306K		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	306										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		AAGTTCTGCTCGTTGATGAAG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	113	118			NA	NA	19		NA											NA				48806314		2203	4300	6503	SO:0001583	missense			BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479	93233	93233			26560	protein-coding gene	gene with protein product		615038			NA	23261302, 23261303	Standard	NM_144577	NM_144577	NA	Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.916G>A	19.37:g.48806314C>T	ENSP00000318429:p.Glu306Lys	NA	Q6ZRL4|Q96M06|Q9UFG8	37	CCDS12714.2	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268026	0.59540	.	.	ENSG00000105479	ENST00000315396	T	0.35789	1.29	3.87	3.87	0.44632	.	.	.	.	.	T	0.59473	0.2196	M	0.81497	2.545	0.43399	D	0.995523	D;D;D	0.76494	0.999;0.991;0.991	D;B;P	0.76071	0.987;0.41;0.61	T	0.65092	-0.6252	9	0.72032	D	0.01	-17.7125	11.7482	0.51832	0.0:1.0:0.0:0.0	.	99;306;306	Q96M63-4;Q96M63;Q96M63-5	.;CC114_HUMAN;.	K	306	ENSP00000318429:E306K	ENSP00000318429:E306K	E	-	1	0	CCDC114	53498126	0.978000	0.34361	0.970000	0.41538	0.656000	0.38851	2.611000	0.46334	1.912000	0.55364	0.536000	0.68110	GAG	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343207.1		-	ENST00000315396.7	Missense_Mutation	SNP	19 : 48806314 - 48806314 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	461	75
CD74	972	broad.mit.edu	37	5	149786471	149786471	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149786471C>T	ENST00000353334.6	-	3	530	c.351G>A	c.(349-351)gcG>gcA	p.A117A	CD74_ENST00000377795.3_Silent_p.A117A|CD74_ENST00000524315.1_Silent_p.A117A|CD74_ENST00000009530.7_Silent_p.A117A	NM_001025159.2|NM_004355.3	NP_001020330.1|NP_004346.1	P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	117	CLIP.				antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCATGGGCAGCGCCTGCATCA	0.682		NA	T	ROS1	NSCLC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		5	5q32	972	CD74 molecule, major histocompatibility complex, class II invariant chain		E	0													21	24	23			NA	NA	5		NA											NA				149786471		2203	4298	6501	SO:0001819	synonymous_variant				CCDS34276.1, CCDS47308.1, CCDS47309.1	5q32	2012-09-20	2006-03-28		ENSG00000019582	ENSG00000019582	972	972		CD molecules	1697	protein-coding gene	gene with protein product	HLA-DR-gamma, Ia-associated invariant chain, gamma chain of class II antigens, MHC HLA-DR gamma chain	142790	CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated)	DHLAG	NA	6324166, 3001652	Standard	NM_004355	NM_004355	NA	Approved		uc003lsc.3	P04233	OTTHUMG00000163559	ENST00000353334.6:c.351G>A	5.37:g.149786471C>T		NA	A8K7R1|B4DNE8|D3DQG3|D3DQG4|Q14597|Q29832|Q5U0J8|Q8SNA0|Q8WLP6	37	CCDS47308.1	.	.	.	.	.	.	.	.	.	.	C	4.129	0.022268	0.08006	.	.	ENSG00000019582	ENST00000518797	T	0.61627	0.09	4.51	-7.42	0.01388	.	0.989663	0.08250	N	0.974778	T	0.25901	0.0631	.	.	.	0.19300	N	0.999973	.	.	.	.	.	.	T	0.19031	-1.0318	7	0.17369	T	0.5	-1.7585	0.562	0.00680	0.212:0.1953:0.2097:0.383	.	.	.	.	T	112	ENSP00000430614:A112T	ENSP00000430614:A112T	A	-	1	0	CD74	149766664	0.000000	0.05858	0.009000	0.14445	0.490000	0.33462	-3.837000	0.00354	-1.756000	0.01318	-0.215000	0.12644	GCT	CD74-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374176.1		-	ENST00000353334.6	Silent	SNP	5 : 149786471 - 149786471 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	77	17
PRDM10	56980	broad.mit.edu	37	11	129804999	129804999	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:129804999C>T	ENST00000358825.5	-	9	1385	c.1154G>A	c.(1153-1155)aGc>aAc	p.S385N	PRDM10_ENST00000526082.1_Missense_Mutation_p.S299N|PRDM10_ENST00000304538.6_Missense_Mutation_p.S299N|PRDM10_ENST00000423662.2_Missense_Mutation_p.S299N|PRDM10_ENST00000528746.1_Missense_Mutation_p.S359N|PRDM10_ENST00000360871.3_Missense_Mutation_p.S385N	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TACATACCTGCTAAACACATC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	154	160			NA	NA	11		NA											NA				129804999		2201	4297	6498	SO:0001583	missense			AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325	56980	56980		Zinc fingers, C2H2-type	13995	protein-coding gene	gene with protein product	PRDM zinc finger transcription factor, PR-domain family member 7, tristanin				NA	12175877	Standard	NM_199437	NM_020228	NA	Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000358825.5:c.1154G>A	11.37:g.129804999C>T	ENSP00000351686:p.Ser385Asn	NA	B7ZL71|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	37	CCDS44771.1	.	.	.	.	.	.	.	.	.	.	c	14.87	2.665007	0.47572	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.10382	2.9;2.9;2.9;2.88;2.95;2.88;2.98	5.11	4.17	0.49024	.	0.170685	0.52532	D	0.000073	T	0.12178	0.0296	L	0.27053	0.805	0.40702	D	0.982499	B;B;P;B;B;P;P	0.46784	0.023;0.152;0.884;0.201;0.039;0.73;0.782	B;B;P;B;B;B;B	0.46076	0.012;0.036;0.503;0.024;0.027;0.37;0.24	T	0.04413	-1.0953	10	0.66056	D	0.02	.	15.1785	0.72934	0.0:0.8532:0.1468:0.0	.	299;385;385;385;299;299;299	B7ZL72;Q9NQV6-4;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;.;PRD10_HUMAN;.;.;.	N	385;299;385;299;359;299;102	ENSP00000351686:S385N;ENSP00000302669:S299N;ENSP00000354118:S385N;ENSP00000398431:S299N;ENSP00000431262:S359N;ENSP00000432237:S299N;ENSP00000435940:S102N	ENSP00000302669:S299N	S	-	2	0	PRDM10	129310209	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	2.494000	0.45329	1.127000	0.42034	0.486000	0.48141	AGC	PRDM10-005	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386074.1		-	ENST00000358825.5	Missense_Mutation	SNP	11 : 129804999 - 129804999 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	727	118
ABCB5	340273	broad.mit.edu	37	7	20682918	20682918	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20682918G>T	ENST00000404938.2	+	6	1078	c.426G>T	c.(424-426)caG>caT	p.Q142H		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	326	ABC transporter 1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTCGAAAACAGTTTTTTCATT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	85	89			NA	NA	7		NA											NA				20682918		1568	3582	5150	SO:0001583	missense			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846	340273	340273		ATP binding cassette transporters / subfamily B	46	protein-coding gene	gene with protein product	P-glycoprotein ABCB5, ATP-binding cassette protein	611785			NA	8894702, 12960149	Standard	NM_178559	NM_001163942	NA	Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.426G>T	7.37:g.20682918G>T	ENSP00000384881:p.Gln142His	NA	A4D131|B7WPL1|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	37	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	2.608	-0.291353	0.05568	.	.	ENSG00000004846	ENST00000404938	D	0.90004	-2.6	3.75	2.67	0.31697	.	.	.	.	.	T	0.73001	0.3531	N	0.12637	0.245	0.80722	D	1	B	0.10296	0.003	B	0.16289	0.015	T	0.59904	-0.7366	9	0.14252	T	0.57	.	3.2368	0.06767	0.174:0.0:0.5888:0.2372	.	142	A7BKA4	.	H	142	ENSP00000384881:Q142H	ENSP00000384881:Q142H	Q	+	3	2	ABCB5	20649443	0.173000	0.23056	1.000000	0.80357	0.452000	0.32318	0.437000	0.21543	0.917000	0.36895	0.563000	0.77884	CAG	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326736.2		+	ENST00000404938.2	Missense_Mutation	SNP	7 : 20682918 - 20682918 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	214	38
PLXNB1	5364	broad.mit.edu	37	3	48463136	48463136	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48463136G>T	ENST00000358536.4	-	7	1869	c.1600C>A	c.(1600-1602)Ctg>Atg	p.L534M	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000296440.6_Missense_Mutation_p.L534M|PLXNB1_ENST00000358459.4_Missense_Mutation_p.L534M|PLXNB1_ENST00000456774.1_Missense_Mutation_p.L534M	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	534					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCCACTTGCAGACAGCCCAGC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	43	43			NA	NA	3		NA											NA				48463136		2203	4300	6503	SO:0001583	missense			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050	5364	5364		Plexins	9103	protein-coding gene	gene with protein product		601053		PLXN5	NA	8570614, 11035813	Standard	NM_002673	XM_005265234	NA	Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.1600C>A	3.37:g.48463136G>T	ENSP00000351338:p.Leu534Met	NA	A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	37	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.826166	0.50739	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.03524	3.9;3.93;3.9;3.93	5.62	2.84	0.33178	.	0.000000	0.64402	D	0.000002	T	0.12433	0.0302	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.00909	-1.1518	10	0.46703	T	0.11	.	10.3248	0.43787	0.2161:0.0:0.7839:0.0	.	534;534	O43157;O43157-2	PLXB1_HUMAN;.	M	534	ENSP00000296440:L534M;ENSP00000351242:L534M;ENSP00000351338:L534M;ENSP00000414199:L534M	ENSP00000296440:L534M	L	-	1	2	PLXNB1	48438140	1.000000	0.71417	0.694000	0.30210	0.174000	0.22865	2.154000	0.42291	0.738000	0.32606	0.655000	0.94253	CTG	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344454.1		-	ENST00000358536.4	Missense_Mutation	SNP	3 : 48463136 - 48463136 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	357	61
URB2	9816	broad.mit.edu	37	1	229790133	229790133	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229790133A>G	ENST00000258243.2	+	9	4511	c.4375A>G	c.(4375-4377)Aag>Gag	p.K1459E		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1459						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GGAGGTACAGAAGGTAAAATT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													233	198	210			NA	NA	1		NA											NA				229790133		2203	4300	6503	SO:0001583	missense			D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763	9816	9816			28967	protein-coding gene	gene with protein product	nucleolar preribosomal-associated protein 1		KIAA0133	KIAA0133	NA	8590280	Standard	NM_014777	NM_014777	NA	Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.4375A>G	1.37:g.229790133A>G	ENSP00000258243:p.Lys1459Glu	NA	Q5VYC9	37	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	A	19.14	3.769447	0.69992	.	.	ENSG00000135763	ENST00000258243;ENST00000434387	T;T	0.44083	0.93;0.93	4.95	4.95	0.65309	Nucleolar 27S pre-rRNA processing, Urb2/Npa2, C-terminal (1);	0.092536	0.85682	D	0.000000	T	0.54743	0.1877	L	0.41824	1.3	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.52087	-0.8622	9	.	.	.	-29.2915	14.9107	0.70755	1.0:0.0:0.0:0.0	.	1459	Q14146	URB2_HUMAN	E	1459;75	ENSP00000258243:K1459E;ENSP00000395107:K75E	.	K	+	1	0	URB2	227856756	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	8.236000	0.89805	1.976000	0.57569	0.528000	0.53228	AAG	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095232.1		+	ENST00000258243.2	Missense_Mutation	SNP	1 : 229790133 - 229790133 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	414	10
CCDC132	55610	broad.mit.edu	37	7	92983071	92983071	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92983071A>C	ENST00000305866.5	+	26	2711	c.2583A>C	c.(2581-2583)gaA>gaC	p.E861D	CCDC132_ENST00000544910.1_Missense_Mutation_p.E831D|CCDC132_ENST00000541136.1_3'UTR|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000535481.1_Missense_Mutation_p.E581D	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	861										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CTATTGTAGAAGGGTAAGTTT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	115	117			NA	NA	7		NA											NA				92983071		1824	4076	5900	SO:0001583	missense			AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766	55610	55610			25956	protein-coding gene	gene with protein product					NA	11347906	Standard	NM_017667	NM_024553	NA	Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.2583A>C	7.37:g.92983071A>C	ENSP00000307666:p.Glu861Asp	NA	Q75N07|Q8WVK3|Q9H5C6	37	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	A	19.53	3.844788	0.71603	.	.	ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000535481	.	.	.	5.52	4.23	0.50019	Protein of unknown function DUF2451, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62913	0.2467	L	0.38649	1.16	0.80722	D	1	D;D;D	0.63046	0.992;0.99;0.979	D;D;D	0.77004	0.989;0.98;0.982	T	0.58624	-0.7604	9	0.30078	T	0.28	-11.2153	10.4322	0.44413	0.8921:0.0:0.1079:0.0	.	581;831;861	B4DS55;F5H5U7;Q96JG6	.;.;CC132_HUMAN	D	861;831;581	.	ENSP00000307666:E861D	E	+	3	2	CCDC132	92821007	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.723000	0.47277	2.237000	0.73441	0.528000	0.53228	GAA	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341687.1		+	ENST00000305866.5	Missense_Mutation	SNP	7 : 92983071 - 92983071 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	579	108
ACACB	32	broad.mit.edu	37	12	109644617	109644617	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109644617G>A	ENST00000338432.7	+	20	3135	c.3016G>A	c.(3016-3018)Gtc>Atc	p.V1006I	ACACB_ENST00000377848.3_Missense_Mutation_p.V1006I|ACACB_ENST00000377854.5_Missense_Mutation_p.V1006I			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1006					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CCTCACCAACGTCATGAGTGG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	133	136			NA	NA	12		NA											NA				109644617		2203	4300	6503	SO:0001583	missense			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	32	32	6.4.1.2		85	protein-coding gene	gene with protein product	acetyl-CoA carboxylase 2	601557	acetyl-Coenzyme A carboxylase beta		NA	8670171	Standard	NM_001093	NM_001093	NA	Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.3016G>A	12.37:g.109644617G>A	ENSP00000341044:p.Val1006Ile	NA	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	1.092	-0.663712	0.03428	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	T;T;T	0.37915	1.17;1.17;1.17	5.29	0.104	0.14531	Acetyl-CoA carboxylase, central domain (1);	0.120003	0.56097	N	0.000027	T	0.11922	0.0290	N	0.02775	-0.495	0.80722	D	1	B	0.24963	0.115	B	0.24006	0.05	T	0.36407	-0.9749	10	0.02654	T	1	.	10.597	0.45343	0.4098:0.0:0.5902:0.0	.	1006	O00763	ACACB_HUMAN	I	1006;1006;1006;237	ENSP00000341044:V1006I;ENSP00000367079:V1006I;ENSP00000367085:V1006I	ENSP00000341044:V1006I	V	+	1	0	ACACB	108129000	0.102000	0.21896	0.393000	0.26258	0.632000	0.37999	0.436000	0.21526	-0.272000	0.09259	-0.136000	0.14681	GTC	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403077.1		+	ENST00000338432.7	Missense_Mutation	SNP	12 : 109644617 - 109644617 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	722	138
DCLRE1B	64858	broad.mit.edu	37	1	114454079	114454079	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114454079C>A	ENST00000369563.3	+	4	1311	c.865C>A	c.(865-867)Ctg>Atg	p.L289M	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	289					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTCGCAGCACTGAAGCCTTG	0.577		NA						Other identified genes with known or suspected DNA repair function						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	92	96			NA	NA	1		NA											NA				114454079		2203	4300	6503	SO:0001583	missense			BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655	64858	64858			17641	protein-coding gene	gene with protein product	APOLLO, PSO2 homolog (S. cerevisiae)	609683	DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)		NA		Standard	NM_022836	NM_022836	NA	Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.865C>A	1.37:g.114454079C>A	ENSP00000358576:p.Leu289Met	NA	Q9H9E5	37	CCDS866.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183116	0.78677	.	.	ENSG00000118655	ENST00000369563	T	0.52295	0.67	6.02	5.11	0.69529	DNA repair metallo-beta-lactamase (1);	0.000000	0.85682	D	0.000000	T	0.61714	0.2369	M	0.81614	2.55	0.53005	D	0.999962	D	0.89917	1.0	D	0.79784	0.993	T	0.68622	-0.5360	10	0.62326	D	0.03	-15.6402	13.2133	0.59839	0.0:0.8685:0.0:0.1315	.	289	Q9H816	DCR1B_HUMAN	M	289	ENSP00000358576:L289M	ENSP00000358576:L289M	L	+	1	2	DCLRE1B	114255602	0.998000	0.40836	0.810000	0.32431	0.985000	0.73830	3.968000	0.56809	1.572000	0.49736	0.655000	0.94253	CTG	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033020.2		+	ENST00000369563.3	Missense_Mutation	SNP	1 : 114454079 - 114454079 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	386	20
MYH3	4621	broad.mit.edu	37	17	10545853	10545853	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10545853C>A	ENST00000583535.1	-	16	1856	c.1769G>T	c.(1768-1770)aGt>aTt	p.S590I	MYH3_ENST00000226209.7_Missense_Mutation_p.S590I	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	590	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						ACCTGAGACACTGTAGTCCAC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	158	161			NA	NA	17		NA											NA				10545853		2203	4300	6503	SO:0001583	missense				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063	4621	4621		Myosins / Myosin superfamily : Class II	7573	protein-coding gene	gene with protein product	myosin, skeletal, heavy chain, embryonic 1, muscle embryonic myosin heavy chain 3	160720	myosin, heavy polypeptide 3, skeletal muscle, embryonic		NA	2726495	Standard	NM_002470	NM_002470	NA	Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.1769G>T	17.37:g.10545853C>A	ENSP00000464317:p.Ser590Ile	NA	Q15492	37	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.668877	0.47677	.	.	ENSG00000109063	ENST00000226209	T	0.73789	-0.78	4.71	3.74	0.42951	Myosin head, motor domain (2);	.	.	.	.	T	0.71728	0.3374	M	0.79011	2.435	0.40627	D	0.981821	B	0.30870	0.298	B	0.32583	0.148	T	0.73754	-0.3883	9	0.87932	D	0	.	5.7549	0.18168	0.0:0.6681:0.0:0.3319	.	590	P11055	MYH3_HUMAN	I	590	ENSP00000226209:S590I	ENSP00000226209:S590I	S	-	2	0	MYH3	10486578	0.998000	0.40836	0.994000	0.49952	0.946000	0.59487	3.265000	0.51561	1.340000	0.45581	0.650000	0.86243	AGT	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252734.2		-	ENST00000583535.1	Missense_Mutation	SNP	17 : 10545853 - 10545853 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	802	144
KIF3C	3797	broad.mit.edu	37	2	26203981	26203981	+	Missense_Mutation	SNP	G	G	A	rs150389136		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26203981G>A	ENST00000264712.3	-	1	1385	c.806C>T	c.(805-807)tCg>tTg	p.S269L	KIF3C_ENST00000405914.1_Missense_Mutation_p.S269L	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	269	Kinesin-motor.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					accgccaccCGAGGATGGTGT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	LEU/SER	0,4398		0,0,2199	33	35	34		806	2.9	0	2	dbSNP_134	34	1,8573		0,1,4286	no	missense	KIF3C	NM_002254.6	145	0,1,6485	AA,AG,GG	NA	0.0117,0.0,0.0077	benign	269/794	26203981	1,12971	2199	4287	6486	SO:0001583	missense				CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731	3797	3797		Kinesins	6321	protein-coding gene	gene with protein product		602845			NA	9480755	Standard		NM_002254	NA	Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.806C>T	2.37:g.26203981G>A	ENSP00000264712:p.Ser269Leu	NA	O43544|Q4ZG18|Q53SX5|Q562F7	37	CCDS1719.1	.	.	.	.	.	.	.	.	.	.	G	1.286	-0.608905	0.03690	0.0	1.17E-4	ENSG00000084731	ENST00000264712;ENST00000542511;ENST00000405914	T;T	0.72725	-0.68;-0.68	5.67	2.92	0.33932	Kinesin, motor domain (3);	1.216860	0.05796	N	0.611221	T	0.58192	0.2105	N	0.24115	0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.50154	-0.8861	10	0.72032	D	0.01	.	7.063	0.25137	0.2702:0.0:0.7298:0.0	.	269;269	B7ZM25;O14782	.;KIF3C_HUMAN	L	269;75;269	ENSP00000264712:S269L;ENSP00000385030:S269L	ENSP00000264712:S269L	S	-	2	0	KIF3C	26057485	0.112000	0.22096	0.001000	0.08648	0.012000	0.07955	2.075000	0.41538	0.761000	0.33130	0.655000	0.94253	TCG	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000211611.1		-	ENST00000264712.3	Missense_Mutation	SNP	2 : 26203981 - 26203981 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	389	61
GLT6D1	360203	broad.mit.edu	37	9	138517963	138517963	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138517963T>C	ENST00000371763.1	-	4	462	c.209A>G	c.(208-210)tAc>tGc	p.Y70C		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	70					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		CCGCCTTCTGTAATGTTTTTC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	85	83			NA	NA	9		NA											NA				138517963		1896	4102	5998	SO:0001583	missense			AY336054	CCDS43900.1	9q34.3	2013-02-22	2004-09-16	2004-09-17	ENSG00000204007	ENSG00000204007	360203	360203		Glycosyltransferase family 6 domain containing	23671	protein-coding gene	gene with protein product		613699	galactosyltransferase family 6 domain containing 1	GLTDC1	NA		Standard	NM_182974	NM_182974	NA	Approved		uc010nbd.1	Q7Z4J2	OTTHUMG00000020911	ENST00000371763.1:c.209A>G	9.37:g.138517963T>C	ENSP00000360829:p.Tyr70Cys	NA		37	CCDS43900.1	.	.	.	.	.	.	.	.	.	.	T	13.86	2.363151	0.41902	.	.	ENSG00000204007	ENST00000371763	T	0.01871	4.59	4.18	3.0	0.34707	.	0.135912	0.34223	N	0.004144	T	0.11281	0.0275	M	0.85373	2.75	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.03278	-1.1053	10	0.87932	D	0	-33.1822	7.0578	0.25109	0.3636:0.0:0.0:0.6364	.	70	Q7Z4J2	GL6D1_HUMAN	C	70	ENSP00000360829:Y70C	ENSP00000360829:Y70C	Y	-	2	0	GLT6D1	137657784	0.854000	0.29725	0.011000	0.14972	0.006000	0.05464	1.747000	0.38298	0.739000	0.32628	0.496000	0.49642	TAC	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055005.2		-	ENST00000371763.1	Missense_Mutation	SNP	9 : 138517963 - 138517963 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	394	58
GRAMD1B	57476	broad.mit.edu	37	11	123481019	123481019	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123481019G>A	ENST00000529750.1	+	13	1790	c.1463G>A	c.(1462-1464)cGt>cAt	p.R488H	GRAMD1B_ENST00000450171.2_Missense_Mutation_p.R179H|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.R488H|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.R495H	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	488						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		ACGCTCACCCGTGTGGCTCGG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	112	112			NA	NA	11		NA											NA				123481019		2024	4176	6200	SO:0001583	missense			AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171	57476	57476			29214	protein-coding gene	gene with protein product					NA	10574462	Standard	XM_370660	NM_001286564	NA	Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.1463G>A	11.37:g.123481019G>A	ENSP00000436500:p.Arg488His	NA	Q6UW85|Q9ULL9	37	CCDS53720.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.981378	0.93044	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000450171	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.48333	0.1494	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;P;D	0.87578	0.925;0.998;0.869;0.943	T	0.38757	-0.9646	10	0.38643	T	0.18	.	18.5888	0.91200	0.0:0.0:1.0:0.0	.	448;179;488;495	B7Z4N9;Q3KR37-3;Q3KR37;E7EPH8	.;.;GRM1B_HUMAN;.	H	495;495;488;488;448;179	ENSP00000402457:R495H;ENSP00000325628:R488H;ENSP00000436500:R488H;ENSP00000432987:R448H;ENSP00000388458:R179H	ENSP00000325628:R488H	R	+	2	0	GRAMD1B	122986229	1.000000	0.71417	0.973000	0.42090	0.690000	0.40134	9.388000	0.97237	2.554000	0.86153	0.561000	0.74099	CGT	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387404.2		+	ENST00000529750.1	Missense_Mutation	SNP	11 : 123481019 - 123481019 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	508	82
ZHX2	22882	broad.mit.edu	37	8	123965964	123965964	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:123965964C>T	ENST00000314393.4	+	3	3049	c.2214C>T	c.(2212-2214)tgC>tgT	p.C738C		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	738						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AAAAGCTCTGCGAAGAGGACT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(94;1056 1388 11767 13799 49639)							NA				0													92	98	96			NA	NA	8		NA											NA				123965964		2203	4300	6503	SO:0001819	synonymous_variant			AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764	22882	22882		Zinc fingers, C2H2-type, Homeoboxes / ZF class	18513	protein-coding gene	gene with protein product		609185	zinc-fingers and homeoboxes 2		NA	10048485, 12741956	Standard	NM_014943	XM_005250837	NA	Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.2214C>T	8.37:g.123965964C>T		NA		37	CCDS6336.1																																																																																			ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381709.1		+	ENST00000314393.4	Silent	SNP	8 : 123965964 - 123965964 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	660	117
MTCH2	23788	broad.mit.edu	37	11	47657112	47657112	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47657112C>T	ENST00000302503.3	-	4	448	c.291G>A	c.(289-291)gaG>gaA	p.E97E	MTCH2_ENST00000542981.1_5'UTR	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	97					transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						CCTTGTCACTCTCCTGGTAAT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	147	158			NA	NA	11		NA											NA				47657112		2201	4298	6499	SO:0001819	synonymous_variant			AF085361	CCDS7943.1	11p11.2	2013-05-22	2011-05-19		ENSG00000109919	ENSG00000109919	23788	23788		Solute carriers	17587	protein-coding gene	gene with protein product	solute carrier family 25, member 50	613221	mitochondrial carrier homolog 2 (C. elegans)		NA		Standard	NM_014342	NM_014342	NA	Approved	SLC25A50	uc010rho.2	Q9Y6C9	OTTHUMG00000166926	ENST00000302503.3:c.291G>A	11.37:g.47657112C>T		NA	B2R7L8	37	CCDS7943.1																																																																																			MTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391921.2		-	ENST00000302503.3	Silent	SNP	11 : 47657112 - 47657112 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	332	53
ZFAT	57623	broad.mit.edu	37	8	135614146	135614146	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:135614146C>T	ENST00000520727.1	-	7	2079	c.1780G>A	c.(1780-1782)Gca>Aca	p.A594T	ZFAT_ENST00000523399.1_Missense_Mutation_p.A544T|ZFAT_ENST00000429442.2_Missense_Mutation_p.A594T|ZFAT_ENST00000520356.1_Missense_Mutation_p.A594T|ZFAT_ENST00000520214.1_Missense_Mutation_p.A594T|ZFAT_ENST00000377838.3_Missense_Mutation_p.A606T	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	p.A606T(1)|p.A594T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TGAGCCTCTGCGGAGGAGGTA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(2)											55	57	56			NA	NA	8		NA											NA				135614146		1980	4178	6158	SO:0001583	missense			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827	57623	57623		Zinc fingers, C2H2-type	19899	protein-coding gene	gene with protein product		610931	zinc finger protein 406	ZNF406, ZFAT1	NA	10819331, 18329245	Standard	NM_001029939	NM_020863	NA	Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000520727.1:c.1780G>A	8.37:g.135614146C>T	ENSP00000427831:p.Ala594Thr	NA	Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	37	CCDS43768.2	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.514163	0.00975	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.10005	2.99;2.92;2.92;2.92;2.92;2.94	5.25	-6.7	0.01766	.	1.892650	0.02219	N	0.063857	T	0.06462	0.0166	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.19935	0.04;0.01;0.003;0.001	B;B;B;B	0.12837	0.008;0.004;0.002;0.001	T	0.25813	-1.0121	10	0.44086	T	0.13	-0.0204	1.9495	0.03364	0.1549:0.2715:0.1635:0.4101	.	544;594;594;606	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	T	594;594;594;606;594;493;544;594	ENSP00000427879:A594T;ENSP00000427831:A594T;ENSP00000394501:A594T;ENSP00000367069:A606T;ENSP00000428483:A594T;ENSP00000429091:A544T	ENSP00000326997:A493T	A	-	1	0	ZFAT	135683328	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.674000	0.05233	-1.512000	0.01791	-1.332000	0.01269	GCA	ZFAT-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378270.1		-	ENST00000520727.1	Missense_Mutation	SNP	8 : 135614146 - 135614146 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	351	73
FASTKD3	79072	broad.mit.edu	37	5	7866895	7866895	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7866895G>A	ENST00000264669.5	-	2	1438	c.1302C>T	c.(1300-1302)aaC>aaT	p.N434N	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	434					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGAATAGCACGTTTTCCAGCT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	57	56			NA	NA	5		NA											NA				7866895		2203	4300	6503	SO:0001819	synonymous_variant			AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279	79072	79072			28758	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024091	NM_024091	NA	Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.1302C>T	5.37:g.7866895G>A		NA	Q9BVD3	37	CCDS3873.1																																																																																			FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253673.1		-	ENST00000264669.5	Silent	SNP	5 : 7866895 - 7866895 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	383	69
RABL2B	11158	broad.mit.edu	37	22	51208393	51208393	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51208393T>C	ENST00000395595.3	-	7	816	c.349A>G	c.(349-351)Aca>Gca	p.T117A	RABL2B_ENST00000435118.1_Missense_Mutation_p.T117A|RABL2B_ENST00000465063.1_5'UTR|RABL2B_ENST00000354869.3_Missense_Mutation_p.T117A|RABL2B_ENST00000395593.3_Missense_Mutation_p.T117A|RABL2B_ENST00000395598.3_Missense_Mutation_p.T117A|RABL2B_ENST00000395591.1_Intron	NM_001130921.1	NP_001124393.1	Q9UNT1	RBL2B_HUMAN	RAB, member of RAS oncogene family-like 2B	117					small GTPase mediated signal transduction		GTP binding|GTPase activity			lung(1)	1		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.0539)|LUAD - Lung adenocarcinoma(64;0.247)		CGAAGCTCTGTATACCAGGTG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(148;358 1894 4987 13698 40400)							NA				0													55	54	55			NA	NA	22		NA											NA				51208393		2202	4296	6498	SO:0001583	missense				CCDS14102.1, CCDS33683.1, CCDS46738.1	22q13.33	2014-05-09			ENSG00000079974	ENSG00000079974	11158	11158		RAB, member RAS oncogene	9800	protein-coding gene	gene with protein product		605413			NA	10444334	Standard	NM_001003789	NM_001130919	NA	Approved		uc011asg.1	Q9UNT1	OTTHUMG00000150156	ENST00000395595.3:c.349A>G	22.37:g.51208393T>C	ENSP00000378960:p.Thr117Ala	NA	Q5TZT8|Q96C33	37	CCDS33683.1	.	.	.	.	.	.	.	.	.	.	T	0.071	-1.202051	0.01581	.	.	ENSG00000079974	ENST00000435118;ENST00000354869;ENST00000395593;ENST00000395598;ENST00000395595	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	3.9	-5.15	0.02866	Small GTP-binding protein domain (1);	0.643224	0.16329	N	0.219208	T	0.50000	0.1590	N	0.12611	0.24	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.001;0.006;0.003	T	0.29243	-1.0018	10	0.48119	T	0.1	-0.5868	2.8444	0.05539	0.1304:0.1695:0.1294:0.5707	.	117;117;117	Q9UNT1-3;Q9UNT1;Q9UNT1-2	.;RBL2B_HUMAN;.	A	117	ENSP00000401906:T117A;ENSP00000346940:T117A;ENSP00000378958:T117A;ENSP00000378962:T117A;ENSP00000378960:T117A	ENSP00000346940:T117A	T	-	1	0	RABL2B	49555259	0.825000	0.29262	0.007000	0.13788	0.033000	0.12548	0.870000	0.28010	-0.604000	0.05760	-0.467000	0.05162	ACA	RABL2B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316611.1		-	ENST00000395595.3	Missense_Mutation	SNP	22 : 51208393 - 51208393 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	621	45
CNTNAP5	129684	broad.mit.edu	37	2	125530402	125530402	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:125530402G>A	ENST00000431078.1	+	17	2921	c.2557G>A	c.(2557-2559)Gat>Aat	p.D853N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	853	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTTTGCCATCGATGTTGGGAA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	158	162			NA	NA	2		NA											NA				125530402		1929	4132	6061	SO:0001583	missense			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052	129684	129684			18748	protein-coding gene	gene with protein product		610519			NA		Standard		NM_130773	NA	Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2557G>A	2.37:g.125530402G>A	ENSP00000399013:p.Asp853Asn	NA	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	g	21.0	4.077372	0.76415	.	.	ENSG00000155052	ENST00000431078	T	0.79554	-1.28	5.63	5.63	0.86233	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.48767	D	0.000169	D	0.86606	0.5973	L	0.43701	1.375	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85406	0.1134	10	0.41790	T	0.15	.	18.7016	0.91621	0.0:0.0:1.0:0.0	.	853	Q8WYK1	CNTP5_HUMAN	N	853	ENSP00000399013:D853N	ENSP00000399013:D853N	D	+	1	0	CNTNAP5	125246872	1.000000	0.71417	0.990000	0.47175	0.126000	0.20510	9.697000	0.98697	2.664000	0.90586	0.645000	0.84053	GAT	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330864.3		+	ENST00000431078.1	Missense_Mutation	SNP	2 : 125530402 - 125530402 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	407	101
MRPS36	92259	broad.mit.edu	37	5	68524106	68524106	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:68524106A>G	ENST00000256441.4	+	3	256	c.186A>G	c.(184-186)ccA>ccG	p.P62P	MRPS36_ENST00000512880.1_5'UTR|MRPS36_ENST00000507022.1_3'UTR|MRPS36_ENST00000602380.1_5'UTR	NM_033281.5	NP_150597.1	P82909	RT36_HUMAN	mitochondrial ribosomal protein S36	62					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1)	7		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)		GTAAATCACCAGATTTGCTGA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	92	90			NA	NA	5		NA											NA				68524106		2203	4300	6503	SO:0001819	synonymous_variant				CCDS34174.1	5q13.2	2013-09-20			ENSG00000134056	ENSG00000134056	92259	92259		Mitochondrial ribosomal proteins / small subunits	16631	protein-coding gene	gene with protein product		611996			NA	11279123	Standard	NM_033281	NM_033281	NA	Approved	DC47, MRP-S36	uc003jvq.3	P82909	OTTHUMG00000162443	ENST00000256441.4:c.186A>G	5.37:g.68524106A>G		NA	Q9H2H4	37	CCDS34174.1																																																																																			MRPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368940.1		+	ENST00000256441.4	Silent	SNP	5 : 68524106 - 68524106 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	89
ARHGAP21	57584	broad.mit.edu	37	10	24889643	24889643	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24889643C>T	ENST00000396432.2	-	14	3550	c.3064G>A	c.(3064-3066)Gct>Act	p.A1022T	ARHGAP21_ENST00000493154.1_5'UTR|ARHGAP21_ENST00000320481.6_Missense_Mutation_p.A809T	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1021	Interaction with ARF1 and ARF6.|PH.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CTGTCTTCAGCCTGAAACAGG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	132	135			NA	NA	10		NA											NA				24889643		2203	4300	6503	SO:0001583	missense			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863	57584	57584		Rho GTPase activating proteins, Pleckstrin homology (PH) domain containing	23725	protein-coding gene	gene with protein product		609870			NA	12056806	Standard	NM_020824	NM_020824	NA	Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.3064G>A	10.37:g.24889643C>T	ENSP00000379709:p.Ala1022Thr	NA	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	37	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005133	0.93287	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93	6.02	5.1	0.69264	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.047686	0.85682	D	0.000000	D	0.92205	0.7528	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92537	0.6038	10	0.51188	T	0.08	.	16.5796	0.84711	0.1313:0.8687:0.0:0.0	.	1012;1021	F8W9U9;Q5T5U3	.;RHG21_HUMAN	T	1022;809;1012;1022;857	ENSP00000379709:A1022T;ENSP00000365604:A809T;ENSP00000365592:A1012T;ENSP00000405018:A1022T	ENSP00000365604:A809T	A	-	1	0	ARHGAP21	24929649	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	7.767000	0.85331	1.518000	0.48934	0.655000	0.94253	GCT	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047229.4		-	ENST00000396432.2	Missense_Mutation	SNP	10 : 24889643 - 24889643 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	700	125
CRB2	286204	broad.mit.edu	37	9	126132862	126132862	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:126132862G>A	ENST00000373631.3	+	7	1531	c.1530G>A	c.(1528-1530)ccG>ccA	p.P510P	CRB2_ENST00000359999.3_Silent_p.P510P|CRB2_ENST00000373629.2_Silent_p.P178P	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	510	Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TGAGACTGCCGGACCTGGCCC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	68	72			NA	NA	9		NA											NA				126132862		2203	4300	6503	SO:0001819	synonymous_variant			AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204	286204	286204			18688	protein-coding gene	gene with protein product		609720	crumbs homolog 2 (Drosophila)		NA	14767562	Standard	NM_173689	XM_005251934	NA	Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.1530G>A	9.37:g.126132862G>A		NA	A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	37	CCDS6852.2																																																																																			CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053990.3		+	ENST00000373631.3	Silent	SNP	9 : 126132862 - 126132862 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	432	74
CDC42SE2	56990	broad.mit.edu	37	5	130726743	130726743	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130726743G>A	ENST00000503291.1	+	5	778	c.133G>A	c.(133-135)Gcc>Acc	p.A45T	CDC42SE2_ENST00000360515.3_Missense_Mutation_p.A72T|CDC42SE2_ENST00000505065.1_Missense_Mutation_p.A72T|CDC42SE2_ENST00000395246.1_Missense_Mutation_p.A72T			Q9NRR3	C42S2_HUMAN	CDC42 small effector 2	72					phagocytosis|regulation of cell shape|regulation of signal transduction	cell projection|cytoplasm|cytoskeleton|phagocytic cup	protein binding|structural molecule activity			breast(1)|large_intestine(1)|skin(1)	3		all_cancers(142;0.0525)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGGAATGCCTGCCAATGTCCA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	116	119			NA	NA	5		NA											NA				130726743		2203	4300	6503	SO:0001583	missense			AF189692	CCDS34224.1	5q31.1	2008-02-05				ENSG00000158985	56990	56990			18547	protein-coding gene	gene with protein product					NA	10816584	Standard	NM_020240	NM_020240	NA	Approved	FLJ21967, SPEC2	uc003kvj.3	Q9NRR3		ENST00000503291.1:c.133G>A	5.37:g.130726743G>A	ENSP00000426779:p.Ala45Thr	NA	B2R622|Q4KMT9	37		.	.	.	.	.	.	.	.	.	.	G	13.55	2.271740	0.40194	.	.	ENSG00000158985	ENST00000395246;ENST00000503291;ENST00000360515;ENST00000505065	.	.	.	5.32	3.43	0.39272	.	0.147481	0.46758	N	0.000267	T	0.34483	0.0899	.	.	.	0.35614	D	0.808895	B	0.02656	0.0	B	0.01281	0.0	T	0.33394	-0.9870	8	0.22706	T	0.39	-11.125	8.3657	0.32385	0.0841:0.0:0.7605:0.1553	.	72	Q9NRR3	C42S2_HUMAN	T	72;45;72;72	.	ENSP00000353706:A72T	A	+	1	0	CDC42SE2	130754642	1.000000	0.71417	0.717000	0.30585	0.628000	0.37860	4.504000	0.60414	1.630000	0.50440	0.655000	0.94253	GCC	CDC42SE2-001	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000370100.1		+	ENST00000503291.1	Missense_Mutation	SNP	5 : 130726743 - 130726743 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	527	27
ACSM2B	348158	broad.mit.edu	37	16	20559396	20559396	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20559396G>T	ENST00000329697.6	-	8	1254	c.1086C>A	c.(1084-1086)ggC>ggA	p.G362G	ACSM2B_ENST00000565232.1_Silent_p.G362G|ACSM2B_ENST00000567001.1_Silent_p.G362G|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565322.1_Silent_p.G283G	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	362					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TTTCTGTCTGGCCATAGAATT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	162	161			NA	NA	16		NA											NA				20559396		2201	4300	6501	SO:0001819	synonymous_variant			AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813	348158	348158		Acyl-CoA synthetase family	30931	protein-coding gene	gene with protein product	xenobiotic/medium chain fatty acid:CoA ligase	614359	acyl-CoA synthetase medium-chain family member 2	ACSM2	NA	12616642	Standard	NM_182617	NM_182617	NA	Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1086C>A	16.37:g.20559396G>T		NA	Q86YT1	37	CCDS10586.1																																																																																			ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254417.2		-	ENST00000329697.6	Silent	SNP	16 : 20559396 - 20559396 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1399	216
DNAH2	146754	broad.mit.edu	37	17	7691258	7691258	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7691258C>A	ENST00000572933.1	+	43	8144	c.6684C>A	c.(6682-6684)gaC>gaA	p.D2228E	DNAH2_ENST00000389173.2_Missense_Mutation_p.D2228E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2228	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCTACACTGACTACGCTGACC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	73	74			NA	NA	17		NA											NA				7691258		2203	4300	6503	SO:0001583	missense			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914	146754	146754		Axonemal dyneins	2948	protein-coding gene	gene with protein product		603333	dynein, axonemal, heavy polypeptide 2, dynein heavy chain domain 3	DNHD3	NA	9256245	Standard	NM_020877	XM_005256470	NA	Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.6684C>A	17.37:g.7691258C>A	ENSP00000458355:p.Asp2228Glu	NA	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531386	0.64972	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	D	0.87729	-2.29	5.07	0.635	0.17723	.	0.000000	0.85682	D	0.000000	D	0.85401	0.5688	L	0.42008	1.315	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.80266	-0.1454	10	0.10636	T	0.68	.	3.5746	0.07930	0.0:0.3903:0.1908:0.4189	.	2228	Q9P225	DYH2_HUMAN	E	2228	ENSP00000373825:D2228E	ENSP00000353818:D2228E	D	+	3	2	DNAH2	7631983	1.000000	0.71417	0.854000	0.33618	0.544000	0.35116	1.168000	0.31859	0.323000	0.23307	0.561000	0.74099	GAC	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000440241.1		+	ENST00000572933.1	Missense_Mutation	SNP	17 : 7691258 - 7691258 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	344	43
FAM86B2	653333	broad.mit.edu	37	8	12287880	12287880	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12287880C>A	ENST00000262365.4	-	4	320	c.321G>T	c.(319-321)caG>caT	p.Q107H	FAM86B2_ENST00000351291.4_Intron|FAM86B2_ENST00000393715.3_Intron|FAM86B2_ENST00000309608.5_Intron	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN	family with sequence similarity 86, member B2	107										endometrium(1)|kidney(2)	3						TCCGGTGGCCCTGGGTGGACT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	26	26			NA	NA	8		NA											NA				12287880		692	1589	2281	SO:0001583	missense				CCDS59092.1	8p23.1	2011-07-01			ENSG00000145002	ENSG00000145002	653333	653333			32222	protein-coding gene	gene with protein product					NA		Standard	XM_928336	NM_001137610	NA	Approved		uc003wvt.4	P0C5J1	OTTHUMG00000165462	ENST00000262365.4:c.321G>T	8.37:g.12287880C>A	ENSP00000262365:p.Gln107His	NA		37	CCDS59092.1	.	.	.	.	.	.	.	.	.	.	-	0.128	-1.116874	0.01799	.	.	ENSG00000145002	ENST00000262365	T	0.03468	3.92	1.16	-2.32	0.06745	.	.	.	.	.	T	0.01835	0.0058	N	0.14661	0.345	0.43971	D	0.996651	B	0.06786	0.001	B	0.06405	0.002	T	0.56456	-0.7976	9	0.15499	T	0.54	.	4.5254	0.11980	0.208:0.4212:0.3708:0.0	.	107	P0C5J1	F86B2_HUMAN	H	107	ENSP00000262365:Q107H	ENSP00000262365:Q107H	Q	-	3	2	FAM86B2	12332251	0.002000	0.14202	0.127000	0.21898	0.008000	0.06430	-1.516000	0.02250	-2.625000	0.00437	-1.604000	0.00809	CAG	FAM86B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding			-	ENST00000262365.4	Missense_Mutation	SNP	8 : 12287880 - 12287880 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	197	13
TTN	7273	broad.mit.edu	37	2	179454805	179454805	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179454805G>T	ENST00000589042.1	-	304	61871	c.61647C>A	c.(61645-61647)atC>atA	p.I20549I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.I17981I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.I18908I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342175.6_Silent_p.I11676I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Silent_p.I11609I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.I11484I|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18908	Fibronectin type-III 49.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTAGCTGAGATGATATACT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	122	123			NA	NA	2		NA											NA				179454805		1927	4142	6069	SO:0001819	synonymous_variant			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.61647C>A	2.37:g.179454805G>T		NA	E7ET18	37	CCDS59435.1																																																																																			TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Silent	SNP	2 : 179454805 - 179454805 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	435	39
FHDC1	85462	broad.mit.edu	37	4	153896509	153896509	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:153896509G>A	ENST00000511601.1	+	12	2254	c.2066G>A	c.(2065-2067)gGc>gAc	p.G689D	FHDC1_ENST00000260008.3_Missense_Mutation_p.G689D			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	689					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GGTTCCCAGGGCATGGAGGAG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	46	45			NA	NA	4		NA											NA				153896509		2203	4300	6503	SO:0001583	missense			AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460	85462	85462			29363	protein-coding gene	gene with protein product					NA	15138637	Standard	NM_033393	NM_033393	NA	Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.2066G>A	4.37:g.153896509G>A	ENSP00000427567:p.Gly689Asp	NA		37	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	G	0.794	-0.757818	0.03019	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.28069	1.63;1.63	5.29	-1.51	0.08664	.	2.486670	0.01025	N	0.004050	T	0.14960	0.0361	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.08106	-1.0738	10	0.13108	T	0.6	.	2.6246	0.04926	0.1748:0.4201:0.1915:0.2136	.	689	Q9C0D6	FHDC1_HUMAN	D	689	ENSP00000427567:G689D;ENSP00000260008:G689D	ENSP00000260008:G689D	G	+	2	0	FHDC1	154115959	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.184000	0.09698	-0.619000	0.05648	-1.098000	0.02139	GGC	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364981.2		+	ENST00000511601.1	Missense_Mutation	SNP	4 : 153896509 - 153896509 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	419	72
NOS3	4846	broad.mit.edu	37	7	150698688	150698688	+	Silent	SNP	C	C	A	rs149990866	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150698688C>A	ENST00000484524.1	+	11	1485	c.1485C>A	c.(1483-1485)acC>acA	p.T495T	NOS3_ENST00000467517.1_Silent_p.T495T|NOS3_ENST00000297494.3_Silent_p.T495T|NOS3_ENST00000461406.1_Silent_p.T289T	NM_001160111.1	NP_001153583.1	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	495	Calmodulin-binding (Potential).				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GGAAGAAGACCTTTAAAGAAG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	130	122			NA	NA	7		NA											NA				150698688		2203	4300	6503	SO:0001819	synonymous_variant				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	4846	4846	1.14.13.39		7876	protein-coding gene	gene with protein product	endothelial nitric oxide synthase	163729			NA	1379542	Standard	NM_000603	NM_000603	NA	Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1485C>A	7.37:g.150698688C>A		NA	A8KA63|B2RCQ1|Q13662|Q14251|Q14434|Q548C1|Q6GSL5|Q9UDC6	37	CCDS55182.1																																																																																			NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351550.1		+	ENST00000484524.1	Silent	SNP	7 : 150698688 - 150698688 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1467	225
ATP8B4	79895	broad.mit.edu	37	15	50339654	50339654	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50339654C>T	ENST00000284509.6	-	4	236	c.95G>A	c.(94-96)cGt>cAt	p.R32H	ATP8B4_ENST00000559829.1_Missense_Mutation_p.R32H	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	32					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			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TGTGTGGATACGATTATCCTG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	94	94			NA	NA	15		NA											NA				50339654		2196	4295	6491	SO:0001583	missense			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043	79895	79895		ATPases / P-type	13536	protein-coding gene	gene with protein product		609123	ATPase, Class I, type 8B, member 4		NA	11015572	Standard	NM_024837	NM_024837	NA	Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.95G>A	15.37:g.50339654C>T	ENSP00000284509:p.Arg32His	NA	Q9H727	37	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056893	0.36277	.	.	ENSG00000104043	ENST00000284509	T	0.79454	-1.27	5.47	5.47	0.80525	.	0.233701	0.36519	N	0.002553	T	0.66046	0.2750	N	0.26042	0.785	0.39911	D	0.97403	B	0.15719	0.014	B	0.11329	0.006	T	0.61806	-0.6987	10	0.11485	T	0.65	.	16.8191	0.85741	0.0:1.0:0.0:0.0	.	32	Q8TF62	AT8B4_HUMAN	H	32	ENSP00000284509:R32H	ENSP00000284509:R32H	R	-	2	0	ATP8B4	48126946	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.874000	0.48483	2.569000	0.86673	0.591000	0.81541	CGT	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418100.1		-	ENST00000284509.6	Missense_Mutation	SNP	15 : 50339654 - 50339654 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	269	106
NRF1	4899	broad.mit.edu	37	7	129394908	129394908	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:129394908G>A	ENST00000393232.1	+	11	1516	c.1399G>A	c.(1399-1401)Gcc>Acc	p.A467T	NRF1_ENST00000311967.2_Missense_Mutation_p.A486T|NRF1_ENST00000353868.4_Missense_Mutation_p.A401T|NRF1_ENST00000539636.1_Missense_Mutation_p.A306T|NRF1_ENST00000223190.4_Missense_Mutation_p.A467T|NRF1_ENST00000393231.3_Missense_Mutation_p.A486T|NRF1_ENST00000393230.2_Missense_Mutation_p.A467T	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	467	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						GACCAGCCTCGCCCAGGGCAA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	80	86			NA	NA	7		NA											NA				129394908		2203	4300	6503	SO:0001583	missense			L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459	4899	4899			7996	protein-coding gene	gene with protein product	alpha palindromic-binding protein	600879			NA	2584221	Standard	NM_001040110	NM_005011	NA	Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.1399G>A	7.37:g.129394908G>A	ENSP00000376924:p.Ala467Thr	NA	Q15305	37	CCDS5813.2	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589531	0.46214	.	.	ENSG00000106459	ENST00000393232;ENST00000353868;ENST00000539636;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231	.	.	.	5.27	5.27	0.74061	Nuclear respiratory factor-1, activation binding domain (1);	0.160042	0.56097	D	0.000034	T	0.30448	0.0765	N	0.08118	0	0.47905	D	0.999543	B;B	0.13145	0.007;0.002	B;B	0.11329	0.006;0.003	T	0.14952	-1.0454	9	0.19590	T	0.45	-12.9813	11.3646	0.49664	0.0828:0.0:0.9172:0.0	.	486;467	Q96AN2;Q16656	.;NRF1_HUMAN	T	467;401;306;467;486;467;486	.	ENSP00000223190:A467T	A	+	1	0	NRF1	129182144	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.618000	0.83043	2.462000	0.83206	0.561000	0.74099	GCC	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000289813.1		+	ENST00000393232.1	Missense_Mutation	SNP	7 : 129394908 - 129394908 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	388	23
EPHA10	284656	broad.mit.edu	37	1	38187396	38187396	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38187396C>A	ENST00000373048.4	-	11	2081	c.2082G>T	c.(2080-2082)gaG>gaT	p.E694D	EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000330210.7_Missense_Mutation_p.E189D|EPHA10_ENST00000427468.2_Missense_Mutation_p.E694D|EPHA10_ENST00000446149.2_5'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	694	Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCGTGAGGGCCTCGGCCAGGA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	20	19			NA	NA	1		NA											NA				38187396		2026	4176	6202	SO:0001583	missense			AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317	284656	284656		EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	19987	protein-coding gene	gene with protein product		611123			NA	12477932	Standard	NM_173641	NM_001099439	NA	Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.2082G>T	1.37:g.38187396C>A	ENSP00000362139:p.Glu694Asp	NA	A4FU89|Q6NW42	37	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.018074	0.35606	.	.	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000373048	T;T;T	0.81163	-1.46;-1.46;-1.46	4.07	2.01	0.26516	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.32328	N	0.006249	D	0.87865	0.6285	M	0.92649	3.33	0.80722	D	1	D	0.56746	0.977	P	0.55713	0.782	D	0.88495	0.3078	10	0.87932	D	0	.	8.8099	0.34961	0.0:0.7584:0.1517:0.0899	.	694	Q5JZY3	EPHAA_HUMAN	D	189;694;694	ENSP00000330379:E189D;ENSP00000397746:E694D;ENSP00000362139:E694D	ENSP00000330379:E189D	E	-	3	2	EPHA10	37959983	0.996000	0.38824	1.000000	0.80357	0.399000	0.30720	0.630000	0.24553	1.054000	0.40438	-0.339000	0.08088	GAG	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000012497.2		-	ENST00000373048.4	Missense_Mutation	SNP	1 : 38187396 - 38187396 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	174	37
LIPF	8513	broad.mit.edu	37	10	90438204	90438204	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90438204C>T	ENST00000394375.3	+	11	1106	c.993C>T	c.(991-993)tcC>tcT	p.S331S	LIPF_ENST00000238983.4_Silent_p.S321S|LIPF_ENST00000355843.2_Silent_p.S298S|LIPF_ENST00000608620.1_Silent_p.S288S	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	321					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		TTTTCTAGTCCCAACCTCCCT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													183	168	173			NA	NA	10		NA											NA				90438204		2203	4300	6503	SO:0001819	synonymous_variant			X05997	CCDS7389.1, CCDS55718.1, CCDS55719.1, CCDS65896.1	10q23	2005-10-30			ENSG00000182333	ENSG00000182333	8513	8513	3.1.1.3		6622	protein-coding gene	gene with protein product		601980			NA	3304425, 9186906	Standard		NM_004190	NA	Approved	HGL, HLAL	uc010qmt.2	P07098	OTTHUMG00000018695	ENST00000394375.3:c.993C>T	10.37:g.90438204C>T		NA	Q2M1P6	37	CCDS55718.1																																																																																			LIPF-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000471920.1		+	ENST00000394375.3	Silent	SNP	10 : 90438204 - 90438204 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1077	47
ADCY10	55811	broad.mit.edu	37	1	167863127	167863127	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167863127G>T	ENST00000367848.1	-	8	1013	c.516C>A	c.(514-516)tcC>tcA	p.S172S	ADCY10_ENST00000545172.1_Silent_p.S111S|ADCY10_ENST00000367851.4_Silent_p.S264S			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	264	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ACTTTTGTAGGGACATCTCCA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	69	72			NA	NA	1		NA											NA				167863127		2203	4300	6503	SO:0001819	synonymous_variant			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	55811	55811	4.6.1.1	Adenylate cyclases	21285	protein-coding gene	gene with protein product	soluble adenylyl cyclase, Hypercalciuria, absorptive, 2	605205			NA		Standard	NM_018417	XM_006711449	NA	Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367848.1:c.516C>A	1.37:g.167863127G>T		NA	O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	37																																																																																				ADCY10-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000083664.1		-	ENST00000367848.1	Silent	SNP	1 : 167863127 - 167863127 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	207	37
N4BP2	55728	broad.mit.edu	37	4	40122325	40122325	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40122325G>T	ENST00000261435.6	+	9	3010	c.2594G>T	c.(2593-2595)aGc>aTc	p.S865I		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	865						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CCACTCAATAGCTATAAATAT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	60	60			NA	NA	4		NA											NA				40122325		2203	4300	6503	SO:0001583	missense			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177	55728	55728			29851	protein-coding gene	gene with protein product	BCL-3 binding protein				NA	10718198, 11717310	Standard	NM_018177	NM_018177	NA	Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.2594G>T	4.37:g.40122325G>T	ENSP00000261435:p.Ser865Ile	NA	A0AVR3|Q9NVK2|Q9P2D4	37	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.638|8.638	0.895275|0.895275	0.17613|0.17613	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|.	0.19806|.	2.12|.	5.64|5.64	0.519|0.519	0.17035|0.17035	.|.	0.874397|.	0.10375|.	N|.	0.682311|.	T|.	0.36936|.	0.0985|.	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	P;B|.	0.37207|.	0.587;0.451|.	B;B|.	0.36464|.	0.225;0.112|.	T|.	0.32052|.	-0.9921|.	10|.	0.62326|.	D|.	0.03|.	-1.8524|-1.8524	2.9096|2.9096	0.05732|0.05732	0.1304:0.3175:0.3411:0.211|0.1304:0.3175:0.3411:0.211	.|.	865;865|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	I|Y	865;785|511	ENSP00000261435:S865I|.	ENSP00000261435:S865I|.	S|X	+|+	2|3	0|2	N4BP2|N4BP2	39798720|39798720	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.016000|0.016000	0.09150|0.09150	-0.085000|-0.085000	0.11250|0.11250	0.037000|0.037000	0.15575|0.15575	0.561000|0.561000	0.74099|0.74099	AGC|TAG	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250458.2		+	ENST00000261435.6	Missense_Mutation	SNP	4 : 40122325 - 40122325 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	43
OCIAD1	54940	broad.mit.edu	37	4	48850458	48850458	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48850458T>G	ENST00000425583.2	+	5	511	c.236T>G	c.(235-237)cTt>cGt	p.L79R	OCIAD1_ENST00000264312.7_Missense_Mutation_p.L79R|OCIAD1_ENST00000513391.2_Missense_Mutation_p.L79R|OCIAD1_ENST00000506801.1_Missense_Mutation_p.L25R|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000444354.2_Missense_Mutation_p.L79R|OCIAD1_ENST00000381473.3_Missense_Mutation_p.L79R|OCIAD1_ENST00000509122.1_Missense_Mutation_p.L52R|OCIAD1_ENST00000508293.1_Missense_Mutation_p.L79R|OCIAD1_ENST00000396448.2_Missense_Mutation_p.L79R	NM_001079842.2	NP_001073311.2	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	79	OCIA.					endosome	protein binding			breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						ATCCCTAAACTTATACGTAAG	0.259		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	73	73			NA	NA	4		NA											NA				48850458		2203	4293	6496	SO:0001583	missense			AF324350	CCDS3484.1, CCDS43228.1, CCDS47052.1	4p11	2010-03-19			ENSG00000109180	ENSG00000109180	54940	54940			16074	protein-coding gene	gene with protein product					NA	11162530, 18328549	Standard	NM_017830	NM_017830	NA	Approved	FLJ20455, TPA018, OCIA, Asrij	uc010igk.3	Q9NX40	OTTHUMG00000102095	ENST00000425583.2:c.236T>G	4.37:g.48850458T>G	ENSP00000416943:p.Leu79Arg	NA	C9K030|Q9BZE8	37	CCDS47052.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.280375	0.80692	.	.	ENSG00000109180	ENST00000504654;ENST00000509122;ENST00000505922;ENST00000514981;ENST00000508996;ENST00000507210;ENST00000264312;ENST00000396448;ENST00000512236;ENST00000509164;ENST00000511102;ENST00000381473;ENST00000444354;ENST00000509963;ENST00000509246;ENST00000506801;ENST00000503016;ENST00000510824;ENST00000425583;ENST00000508293;ENST00000513391	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81	5.53	5.53	0.82687	.	0.120460	0.56097	D	0.000038	T	0.61899	0.2384	L	0.55481	1.735	0.41182	D	0.98624	D;D;D;D	0.65815	0.995;0.995;0.995;0.991	D;P;P;D	0.64776	0.929;0.861;0.861;0.913	T	0.65467	-0.6161	10	0.72032	D	0.01	-12.937	13.6181	0.62121	0.0:0.0:0.0:1.0	.	52;79;79;79	D6RBN5;Q9NX40-3;Q9NX40-2;Q9NX40	.;.;.;OCAD1_HUMAN	R	79;52;52;79;79;79;79;79;79;79;79;79;79;79;25;25;25;25;79;79;79	ENSP00000423381:L79R;ENSP00000424041:L52R;ENSP00000423126:L52R;ENSP00000423845:L79R;ENSP00000424252:L79R;ENSP00000420917:L79R;ENSP00000264312:L79R;ENSP00000379725:L79R;ENSP00000426386:L79R;ENSP00000426902:L79R;ENSP00000427389:L79R;ENSP00000370882:L79R;ENSP00000399656:L79R;ENSP00000425633:L79R;ENSP00000420881:L25R;ENSP00000427363:L25R;ENSP00000425356:L25R;ENSP00000425968:L25R;ENSP00000416943:L79R;ENSP00000423002:L79R;ENSP00000423909:L79R	ENSP00000264312:L79R	L	+	2	0	OCIAD1	48545215	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.212000	0.65225	2.087000	0.62958	0.528000	0.53228	CTT	OCIAD1-201	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361811.1		+	ENST00000425583.2	Missense_Mutation	SNP	4 : 48850458 - 48850458 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	167	44
SLC39A12	221074	broad.mit.edu	37	10	18284597	18284597	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18284597G>A	ENST00000377371.3	+	10	1741	c.1543G>A	c.(1543-1545)Gat>Aat	p.D515N	SLC39A12_ENST00000377369.2_Missense_Mutation_p.D516N|SLC39A12_ENST00000377374.4_Missense_Mutation_p.D479N|SLC39A12_ENST00000539911.1_Missense_Mutation_p.D382N			Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	516					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AAGCCCAGAAGATTCACAGGC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	54	52			NA	NA	10		NA											NA				18284597		2203	4300	6503	SO:0001583	missense				CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482	221074	221074		Solute carriers	20860	protein-coding gene	gene with protein product		608734	solute carrier family 39 (metal ion transporter), member 12		NA	12659941	Standard	NM_152725	NM_152725	NA	Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377371.3:c.1543G>A	10.37:g.18284597G>A	ENSP00000366588:p.Asp515Asn	NA	B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	37		.	.	.	.	.	.	.	.	.	.	G	21.2	4.112274	0.77210	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	4.65	4.65	0.58169	.	1.707740	0.03073	N	0.157493	T	0.66973	0.2844	L	0.58969	1.84	0.51482	D	0.999928	D;B;D	0.61697	0.99;0.018;0.99	P;B;P	0.62014	0.897;0.1;0.897	T	0.50964	-0.8765	10	0.33141	T	0.24	-13.3985	14.7473	0.69499	0.0:0.0:1.0:0.0	.	515;516;479	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	N	516;479;515;382;436	ENSP00000366586:D516N;ENSP00000366591:D479N;ENSP00000366588:D515N;ENSP00000440445:D382N	ENSP00000366586:D516N	D	+	1	0	SLC39A12	18324603	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.362000	0.66098	2.579000	0.87056	0.650000	0.86243	GAT	SLC39A12-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000047060.1		+	ENST00000377371.3	Missense_Mutation	SNP	10 : 18284597 - 18284597 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	303	51
FAM3D	131177	broad.mit.edu	37	3	58622881	58622881	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58622881C>T	ENST00000358781.2	-	8	755	c.445G>A	c.(445-447)Gat>Aat	p.D149N		NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	149					negative regulation of insulin secretion	extracellular region	cytokine activity			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		GTCCCTGGATCGTCGTAGGAG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	67	68			NA	NA	3		NA											NA				58622881		2203	4300	6503	SO:0001583	missense			AF494381	CCDS2893.1	3p21.1	2008-07-18			ENSG00000198643	ENSG00000198643	131177	131177			18665	protein-coding gene	gene with protein product		608619			NA	12160727	Standard	NM_138805	NM_138805	NA	Approved	EF7, OIT1	uc003dkq.3	Q96BQ1	OTTHUMG00000159148	ENST00000358781.2:c.445G>A	3.37:g.58622881C>T	ENSP00000351632:p.Asp149Asn	NA	Q547G2	37	CCDS2893.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870487	0.91587	.	.	ENSG00000198643	ENST00000358781;ENST00000483787;ENST00000489857	T;T;T	0.50001	1.94;1.13;0.76	5.16	5.16	0.70880	.	0.066529	0.64402	D	0.000010	T	0.74450	0.3718	M	0.90542	3.125	0.58432	D	0.999997	D	0.89917	1.0	D	0.79108	0.992	T	0.80441	-0.1381	10	0.87932	D	0	-50.262	16.5175	0.84304	0.0:1.0:0.0:0.0	.	149	Q96BQ1	FAM3D_HUMAN	N	149;148;112	ENSP00000351632:D149N;ENSP00000417099:D148N;ENSP00000417453:D112N	ENSP00000351632:D149N	D	-	1	0	FAM3D	58597921	1.000000	0.71417	0.970000	0.41538	0.754000	0.42855	6.146000	0.71777	2.559000	0.86315	0.655000	0.94253	GAT	FAM3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353494.1		-	ENST00000358781.2	Missense_Mutation	SNP	3 : 58622881 - 58622881 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	161	30
ATXN10	25814	broad.mit.edu	37	22	46125440	46125440	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46125440G>A	ENST00000252934.5	+	7	1129	c.864G>A	c.(862-864)aaG>aaA	p.K288K	ATXN10_ENST00000381061.4_Silent_p.K224K	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	288					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		CTGTGCTCAAGCTGGCCTCTG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	99	109			NA	NA	22		NA											NA				46125440		2203	4300	6503	SO:0001819	synonymous_variant			AK095309	CCDS14070.1, CCDS54540.1	22q13	2013-02-15	2004-08-12	2004-08-12	ENSG00000130638	ENSG00000130638	25814	25814		Ataxins	10549	protein-coding gene	gene with protein product		611150	spinocerebellar ataxia 10	SCA10	NA	9973298	Standard	NM_013236	NM_013236	NA	Approved	E46L, FLJ37990	uc003bgm.2	Q9UBB4	OTTHUMG00000150451	ENST00000252934.5:c.864G>A	22.37:g.46125440G>A		NA	O14998|O15009|Q6I9X4	37	CCDS14070.1																																																																																			ATXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318142.2		+	ENST00000252934.5	Silent	SNP	22 : 46125440 - 46125440 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	466	93
SF3B3	23450	broad.mit.edu	37	16	70603981	70603981	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70603981G>T	ENST00000302516.5	+	24	3548	c.3337G>T	c.(3337-3339)Ggc>Tgc	p.G1113C		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1113					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GATCCCTGGAGGCTCAGAATC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													185	129	148			NA	NA	16		NA											NA				70603981		2198	4300	6498	SO:0001583	missense			AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091	23450	23450			10770	protein-coding gene	gene with protein product		605592	splicing factor 3b, subunit 3, 130kD		NA	10490618	Standard	NM_012426	NM_012426	NA	Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.3337G>T	16.37:g.70603981G>T	ENSP00000305790:p.Gly1113Cys	NA	Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	37	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407359	0.83230	.	.	ENSG00000189091	ENST00000302516	T	0.48201	0.82	5.66	5.66	0.87406	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78483	0.4290	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83781	0.0225	10	0.87932	D	0	.	19.7566	0.96296	0.0:0.0:1.0:0.0	.	1113	Q15393	SF3B3_HUMAN	C	1113	ENSP00000305790:G1113C	ENSP00000305790:G1113C	G	+	1	0	SF3B3	69161482	1.000000	0.71417	1.000000	0.80357	0.471000	0.32888	9.768000	0.98965	2.671000	0.90904	0.563000	0.77884	GGC	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268972.1		+	ENST00000302516.5	Missense_Mutation	SNP	16 : 70603981 - 70603981 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	332	34
FRY	10129	broad.mit.edu	37	13	32852676	32852676	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32852676C>T	ENST00000380250.3	+	58	8956	c.8460C>T	c.(8458-8460)tcC>tcT	p.S2820S	FRY_ENST00000542859.1_Silent_p.S190S	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2820					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CAGGGGACTCCGAAGAAAAGG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	128	128			NA	NA	13		NA											NA				32852676		1839	4095	5934	SO:0001819	synonymous_variant			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910	10129	10129			20367	protein-coding gene	gene with protein product		614818	chromosome 13 open reading frame 14	C13orf14	NA	14702039, 8812419	Standard	NM_023037	NM_023037	NA	Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.8460C>T	13.37:g.32852676C>T		NA	Q9Y3N6	37	CCDS41875.1																																																																																			FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044405.1		+	ENST00000380250.3	Silent	SNP	13 : 32852676 - 32852676 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	556	60
MEX3A	92312	broad.mit.edu	37	1	156047474	156047474	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156047474C>A	ENST00000532414.2	-	2	454		c.e2-1		MEX3A_ENST00000442784.1_Splice_Site	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	NA						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					ATCTTGCAGCCTGGGATAGGG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	29	28			NA	NA	1		NA											NA				156047474		2067	4218	6285	SO:0001630	splice_region_variant			AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726	92312	92312		RING-type (C3HC4) zinc fingers, Mex-3 homologs	33482	protein-coding gene	gene with protein product		611007	ring finger and KH domain containing 4, mex-3 homolog A (C. elegans)	RKHD4	NA	17267406	Standard	NM_001093725	NM_001093725	NA	Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.455-1G>T	1.37:g.156047474C>A		NA		37	CCDS53377.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.519069	0.64634	.	.	ENSG00000254726	ENST00000532414	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6757	0.88230	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MEX3A	154314098	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.818000	0.86416	2.527000	0.85204	0.462000	0.41574	.	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046218.3	Intron	-	ENST00000532414.2	Splice_Site	SNP	1 : 156047474 - 156047474 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	144	14
DNAH2	146754	broad.mit.edu	37	17	7691221	7691221	+	Missense_Mutation	SNP	C	C	T	rs142583624		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7691221C>T	ENST00000572933.1	+	43	8107	c.6647C>T	c.(6646-6648)cCg>cTg	p.P2216L	DNAH2_ENST00000389173.2_Missense_Mutation_p.P2216L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2216	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATGGCCTCTCCGGCCACTGTA	0.532		NA											C	1	5e-04	NA	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	EXOME	NA	NA	0.0015	SNP								NA				0								C	LEU/PRO	7,4399	12.9+/-30.5	0,7,2196	69	67	68		6647	5.1	1	17	dbSNP_134	68	0,8600		0,0,4300	yes	missense	DNAH2	NM_020877.2	98	0,7,6496	TT,TC,CC	NA	0.0,0.1589,0.0538	probably-damaging	2216/4428	7691221	7,12999	2203	4300	6503	SO:0001583	missense			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914	146754	146754		Axonemal dyneins	2948	protein-coding gene	gene with protein product		603333	dynein, axonemal, heavy polypeptide 2, dynein heavy chain domain 3	DNHD3	NA	9256245	Standard	NM_020877	XM_005256470	NA	Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.6647C>T	17.37:g.7691221C>T	ENSP00000458355:p.Pro2216Leu	NA	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	37	CCDS32551.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	22.2	4.264746	0.80358	0.001589	0.0	ENSG00000183914	ENST00000360606;ENST00000389173	D	0.98901	-5.22	5.07	5.07	0.68467	ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	D	0.99205	0.9724	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99379	1.0922	10	0.87932	D	0	.	17.3715	0.87379	0.0:1.0:0.0:0.0	.	2216	Q9P225	DYH2_HUMAN	L	2216	ENSP00000373825:P2216L	ENSP00000353818:P2216L	P	+	2	0	DNAH2	7631946	1.000000	0.71417	0.988000	0.46212	0.358000	0.29455	7.181000	0.77682	2.631000	0.89168	0.561000	0.74099	CCG	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000440241.1		+	ENST00000572933.1	Missense_Mutation	SNP	17 : 7691221 - 7691221 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	384	33
LCK	3932	broad.mit.edu	37	1	32740348	32740348	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32740348G>A	ENST00000333070.4	+	3	216	c.116G>A	c.(115-117)cGa>cAa	p.R39Q	LCK_ENST00000373564.3_Missense_Mutation_p.R39Q|LCK_ENST00000336890.5_Missense_Mutation_p.R39Q	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	39	Interactions with CD4 and CD8 (By similarity).				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	CTGCTCATCCGAAATGGCTCT	0.627		NA	T	TRB@	T-ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1p35-p34.3	3932	lymphocyte-specific protein tyrosine kinase		L	0													66	57	60			NA	NA	1		NA											NA				32740348		2203	4300	6503	SO:0001583	missense			M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	3932	3932	2.7.10.1	SH2 domain containing	6524	protein-coding gene	gene with protein product		153390	lymphocyte-specific protein tyrosine kinase		NA	2787474	Standard	NM_005356	XM_005270862	NA	Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000333070.4:c.116G>A	1.37:g.32740348G>A	ENSP00000328213:p.Arg39Gln	NA	D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	37		.	.	.	.	.	.	.	.	.	.	g	13.00	2.106324	0.37145	.	.	ENSG00000182866	ENST00000336890;ENST00000482949;ENST00000495610;ENST00000461712;ENST00000373562;ENST00000477031;ENST00000373557;ENST00000333070;ENST00000436824;ENST00000373564	T;T;T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	4.66	4.66	0.58398	.	0.173117	0.31370	N	0.007762	T	0.25269	0.0614	N	0.24115	0.695	0.25230	N	0.989837	B;B;B;P	0.42692	0.154;0.414;0.014;0.787	B;B;B;B	0.26693	0.006;0.057;0.008;0.072	T	0.22521	-1.0214	10	0.10111	T	0.7	.	14.8216	0.70077	0.0:0.0:1.0:0.0	.	83;39;39;39	E7EN21;Q573B4;P06239-3;P06239	.;.;.;LCK_HUMAN	Q	39;39;39;39;39;83;83;39;83;39	ENSP00000337825:R39Q;ENSP00000431517:R39Q;ENSP00000435605:R39Q;ENSP00000434525:R39Q;ENSP00000362663:R39Q;ENSP00000436554:R83Q;ENSP00000362658:R83Q;ENSP00000328213:R39Q;ENSP00000362665:R39Q	ENSP00000328213:R39Q	R	+	2	0	LCK	32512935	0.983000	0.35010	0.663000	0.29738	0.639000	0.38242	3.079000	0.50104	2.597000	0.87782	0.555000	0.69702	CGA	LCK-004	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000019805.2		+	ENST00000333070.4	Missense_Mutation	SNP	1 : 32740348 - 32740348 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	334	37
ULK4	54986	broad.mit.edu	37	3	41746756	41746756	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41746756A>G	ENST00000301831.4	-	26	3138	c.2676T>C	c.(2674-2676)gaT>gaC	p.D892D		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	892							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTATGGCTCCATCTATGTTCG	0.274		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	84	86			NA	NA	3		NA											NA				41746756		1808	4077	5885	SO:0001819	synonymous_variant			AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038	54986	54986			15784	protein-coding gene	gene with protein product			unc-51-like kinase 4 (C. elegans)		NA	12477932	Standard	XM_929989	NM_017886	NA	Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.2676T>C	3.37:g.41746756A>G		NA	A6NF15|Q8IW79|Q9NWV6|Q9UF96	37	CCDS43071.1																																																																																			ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343490.1		-	ENST00000301831.4	Silent	SNP	3 : 41746756 - 41746756 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	298	12
RREB1	6239	broad.mit.edu	37	6	7232026	7232026	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7232026C>T	ENST00000379938.2	+	10	4231	c.3694C>T	c.(3694-3696)Ctg>Ttg	p.L1232L	RREB1_ENST00000379933.3_Silent_p.L1232L|RREB1_ENST00000334984.6_Silent_p.L1232L|RREB1_ENST00000349384.6_Silent_p.L1232L	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1232					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGACAAGCTGCTGAGGGCCAA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	48	55			NA	NA	6		NA											NA				7232026		2203	4300	6503	SO:0001819	synonymous_variant			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782	6239	6239		Zinc fingers, C2H2-type	10449	protein-coding gene	gene with protein product	hindsight homolog (drosophila)	602209			NA	9367691, 18394891	Standard		NM_001003698	NA	Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000379938.2:c.3694C>T	6.37:g.7232026C>T		NA	A2RRF5|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	37	CCDS34335.1																																																																																			RREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039774.3		+	ENST00000379938.2	Silent	SNP	6 : 7232026 - 7232026 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	223	45
DUSP10	11221	broad.mit.edu	37	1	221913078	221913078	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:221913078C>T	ENST00000366899.3	-	2	247	c.9G>A	c.(7-9)ccG>ccA	p.P3P	DUSP10_ENST00000323825.3_Intron	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	3					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.P3P(1)		NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		CTAAAGGAGACGGAGGCATGA	0.483		NA												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)											65	64	64			NA	NA	1		NA											NA				221913078		2203	4300	6503	SO:0001819	synonymous_variant			AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507	11221	11221		Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases	3065	protein-coding gene	gene with protein product		608867			NA	10391943, 10597297	Standard	NM_007207	NM_007207	NA	Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.9G>A	1.37:g.221913078C>T		NA	D3DTB4|Q6GSI4|Q9H9Z5	37	CCDS1528.1																																																																																			DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090716.1		-	ENST00000366899.3	Silent	SNP	1 : 221913078 - 221913078 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	418	32
ATP8A1	10396	broad.mit.edu	37	4	42416721	42416721	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42416721G>A	ENST00000381668.5	-	36	3551	c.3320C>T	c.(3319-3321)gCg>gTg	p.A1107V	ATP8A1_ENST00000264449.10_Missense_Mutation_p.A1092V	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1107					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	p.A1107V(1)|p.A1092V(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GAGCAGTTGCGCCCTCTCGGT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	endometrium(2)											116	108	111			NA	NA	4		NA											NA				42416721		2203	4300	6503	SO:0001583	missense			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406	10396	10396		ATPases / P-type	13531	protein-coding gene	gene with protein product		609542	ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1		NA	10198212, 9548971	Standard	NM_006095	NM_006095	NA	Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.3320C>T	4.37:g.42416721G>A	ENSP00000371084:p.Ala1107Val	NA	Q32M36|Q4W5J7|Q4W5P2	37	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684706	0.68157	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.61859	0.07;0.07	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.54967	0.1891	M	0.73217	2.22	0.80722	D	1	B;B;P	0.36222	0.181;0.343;0.544	B;B;B	0.21360	0.011;0.034;0.034	T	0.57728	-0.7761	10	0.33940	T	0.23	.	19.5635	0.95382	0.0:0.0:1.0:0.0	.	1092;1107;1099	Q32M35;Q9Y2Q0;E7EUK4	.;AT8A1_HUMAN;.	V	1107;1092	ENSP00000371084:A1107V;ENSP00000264449:A1092V	ENSP00000264449:A1092V	A	-	2	0	ATP8A1	42111478	1.000000	0.71417	0.985000	0.45067	0.927000	0.56198	8.766000	0.91728	2.636000	0.89361	0.557000	0.71058	GCG	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216861.2		-	ENST00000381668.5	Missense_Mutation	SNP	4 : 42416721 - 42416721 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	528	101
TPTE2	93492	broad.mit.edu	37	13	20025342	20025342	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20025342C>A	ENST00000382978.1	-	10	687	c.645G>T	c.(643-645)aaG>aaT	p.K215N	TPTE2_ENST00000457266.2_Missense_Mutation_p.K144N|TPTE2_ENST00000390680.2_Missense_Mutation_p.K178N|TPTE2_ENST00000400103.2_Missense_Mutation_p.K144N|TPTE2_ENST00000382975.4_Missense_Mutation_p.K215N|TPTE2_ENST00000400230.2_Missense_Mutation_p.K255N|TPTE2_ENST00000382977.4_Missense_Mutation_p.K255N|TPTE2_ENST00000255310.6_Missense_Mutation_p.K178N			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	255	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TTCGATGTTTCTTATCTAGAA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	111	116			NA	NA	13		NA											NA				20025342		2203	4299	6502	SO:0001583	missense			AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958	93492	93492		Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs	17299	protein-coding gene	gene with protein product		606791			NA	11716755, 12717346, 15057823	Standard	NM_199254	NM_130785	NA	Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000382978.1:c.645G>T	13.37:g.20025342C>A	ENSP00000372438:p.Lys215Asn	NA	B1AQ16|Q5VUH2|Q8WWL4|Q8WWL5	37		.	.	.	.	.	.	.	.	.	.	c	2.644	-0.283456	0.05642	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	T;T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58	2.63	0.805	0.18703	Phosphatase tensin type (1);	0.344519	0.30293	N	0.009953	T	0.15955	0.0384	N	0.24115	0.695	0.22581	N	0.998966	B;B;B	0.22851	0.042;0.062;0.076	B;B;B	0.28305	0.088;0.053;0.088	T	0.16276	-1.0408	9	.	.	.	-4.094	3.5972	0.08010	0.1609:0.2761:0.563:0.0	.	144;178;255	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	N	215;144;255;178;178;255;215;144;255;124	ENSP00000372438:K215N;ENSP00000382974:K144N;ENSP00000383089:K255N;ENSP00000255310:K178N;ENSP00000375098:K178N;ENSP00000372437:K255N;ENSP00000372435:K215N;ENSP00000442218:K144N	.	K	-	3	2	TPTE2	18923342	0.173000	0.23056	0.349000	0.25694	0.182000	0.23217	-1.029000	0.03585	0.182000	0.20032	0.194000	0.17425	AAG	TPTE2-001	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000044022.1		-	ENST00000382978.1	Missense_Mutation	SNP	13 : 20025342 - 20025342 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	34
STAU1	6780	broad.mit.edu	37	20	47768165	47768165	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47768165T>G	ENST00000371856.2	-	5	874	c.464A>C	c.(463-465)aAa>aCa	p.K155T	STAU1_ENST00000340954.7_Missense_Mutation_p.K74T|STAU1_ENST00000360426.4_Missense_Mutation_p.K74T|STAU1_ENST00000371792.1_Missense_Mutation_p.K74T|STAU1_ENST00000371802.1_Missense_Mutation_p.K74T|STAU1_ENST00000347458.5_Missense_Mutation_p.K74T|STAU1_ENST00000371828.3_Missense_Mutation_p.K74T	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	155	DRBM 1.					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			CCTCAACGCTTTGGCAGCAGC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	128	134			NA	NA	20		NA											NA				47768165		2203	4300	6503	SO:0001583	missense				CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214	6780	6780			11370	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 150	601716	staufen (Drosophila, RNA-binding protein), staufen, RNA binding protein (Drosophila), staufen, RNA binding protein, homolog 1 (Drosophila)	STAU	NA	8884277, 15680326	Standard	NM_017453	XM_005260524	NA	Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.464A>C	20.37:g.47768165T>G	ENSP00000360922:p.Lys155Thr	NA	A8K9Z4|E1P5Y1|E1P608|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	37	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.039199	0.55003	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792;ENST00000437404;ENST00000456866	T;T;T;T;T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15	5.63	3.37	0.38596	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.096026	0.64402	D	0.000001	D	0.85204	0.5643	M	0.77313	2.365	0.58432	D	0.999998	D;D	0.56521	0.976;0.966	D;D	0.64410	0.925;0.923	D	0.84327	0.0519	10	0.87932	D	0	-7.0256	9.2526	0.37564	0.0:0.1472:0.0:0.8528	.	155;74	O95793;Q5JW29	STAU1_HUMAN;.	T	74;74;155;74;74;74;74;74;74;114	ENSP00000360893:K74T;ENSP00000345425:K74T;ENSP00000360922:K155T;ENSP00000353604:K74T;ENSP00000323443:K74T;ENSP00000360867:K74T;ENSP00000360857:K74T;ENSP00000416779:K74T;ENSP00000398785:K114T	ENSP00000345425:K74T	K	-	2	0	STAU1	47201572	1.000000	0.71417	0.218000	0.23776	0.234000	0.25298	3.912000	0.56386	0.433000	0.26313	0.533000	0.62120	AAA	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079633.1		-	ENST00000371856.2	Missense_Mutation	SNP	20 : 47768165 - 47768165 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	428	72
DACH2	117154	broad.mit.edu	37	X	85950138	85950138	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:85950138C>T	ENST00000373131.1	+	4	1011	c.848C>T	c.(847-849)gCt>gTt	p.A283V	DACH2_ENST00000510272.1_Missense_Mutation_p.A77V|DACH2_ENST00000373125.4_Missense_Mutation_p.A296V|DACH2_ENST00000508860.1_Missense_Mutation_p.A129V	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						ATTGGGGGTGCTCCAACCCTC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	47	53			NA	NA	X		NA											NA				85950138		2203	4300	6503	SO:0001583	missense			AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733	117154	117154			16814	protein-coding gene	gene with protein product		300608	dachshund homolog 2 (Drosophila)		NA		Standard	NM_053281	NM_053281	NA	Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373131.1:c.848C>T	X.37:g.85950138C>T	ENSP00000362223:p.Ala283Val	NA	B1AJV3|Q8NAY3|Q8ND17|Q96N55	37	CCDS48140.1	.	.	.	.	.	.	.	.	.	.	c	9.268	1.045024	0.19748	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297	D;D	0.83250	-1.7;-1.7	4.99	4.12	0.48240	.	0.399373	0.23832	N	0.044125	T	0.68220	0.2977	N	0.19112	0.55	0.25362	N	0.98878	B;P;P	0.43094	0.323;0.799;0.514	B;B;B	0.36567	0.079;0.228;0.077	T	0.57254	-0.7843	10	0.17832	T	0.49	.	12.8008	0.57584	0.0:0.918:0.0:0.082	.	162;283;296	Q1RMF5;Q96NX9-2;Q96NX9	.;.;DACH2_HUMAN	V	296;283;296;129;77;129	ENSP00000362223:A283V;ENSP00000362217:A296V	ENSP00000345134:A296V	A	+	2	0	DACH2	85836794	0.999000	0.42202	0.021000	0.16686	0.004000	0.04260	3.625000	0.54238	0.885000	0.36088	0.509000	0.49947	GCT	DACH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057407.1		+	ENST00000373131.1	Missense_Mutation	SNP	X : 85950138 - 85950138 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	100	19
TTC21B	79809	broad.mit.edu	37	2	166805950	166805950	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166805950A>G	ENST00000243344.7	-	3	353	c.216T>C	c.(214-216)tgT>tgC	p.C72C	AC010127.5_ENST00000440322.1_RNA	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	72						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CAAGTAGAGAACAAAGTGATA	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	140	135			NA	NA	2		NA											NA				166805950		2203	4299	6502	SO:0001819	synonymous_variant			AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607	79809	79809		Tetratricopeptide (TTC) repeat domain containing, Intraflagellar transport homologs	25660	protein-coding gene	gene with protein product		612014			NA	12056414, 21258341	Standard	NM_024753	NM_024753	NA	Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.216T>C	2.37:g.166805950A>G		NA	A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	37	CCDS33315.1																																																																																			TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333770.1		-	ENST00000243344.7	Silent	SNP	2 : 166805950 - 166805950 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	860	58
CTD-3222D19.2	0	broad.mit.edu	37	19	16612313	16612313	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16612313G>A	ENST00000409035.1	-	8	1924				C19orf44_ENST00000221671.3_Missense_Mutation_p.G237D|C19orf44_ENST00000594035.1_Missense_Mutation_p.G237D						NA											NA						ACGAATCAAGGCTTCAGCAGC	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	60	59			NA	NA	19		NA											NA				16612313		2200	4299	6499	SO:0001627	intron_variant											NA	NA			NA							NA					NA						ENST00000409035.1:c.1282-5650C>T	19.37:g.16612313G>A		NA		37		.	.	.	.	.	.	.	.	.	.	G	11.58	1.681165	0.29872	.	.	ENSG00000105072	ENST00000221671	.	.	.	5.0	1.09	0.20402	.	0.908465	0.09154	N	0.841061	T	0.37972	0.1023	L	0.54323	1.7	0.09310	N	1	P;D	0.58268	0.931;0.982	P;P	0.56514	0.602;0.8	T	0.29761	-1.0001	9	0.06494	T	0.89	-4.9827	3.6107	0.08060	0.0973:0.1415:0.5473:0.2139	.	237;237	Q9H6X5;Q9H6X5-2	CS044_HUMAN;.	D	237	.	ENSP00000221671:G237D	G	+	2	0	C19orf44	16473313	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.037000	0.12164	0.580000	0.29522	0.655000	0.94253	GGC	CTD-3222D19.2-001	KNOWN	basic|appris_principal|readthrough_transcript|exp_conf	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000461092.1		-	ENST00000409035.1	Intron	SNP	19 : 16612313 - 16612313 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	380	68
C4orf50	389197	broad.mit.edu	37	4	5966868	5966868	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5966868C>T	ENST00000531445.1	-	6	1930	c.1884G>A	c.(1882-1884)caG>caA	p.Q628Q	C4orf50_ENST00000324058.5_Silent_p.Q154Q			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	154										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						AGAGGTATGTCTGAGCTGGAA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	74	72			NA	NA	4		NA											NA				5966868		2203	4300	6503	SO:0001819	synonymous_variant			BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215	389197	389197			33766	protein-coding gene	gene with protein product					NA		Standard	NM_207405	XM_003119922	NA	Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000531445.1:c.1884G>A	4.37:g.5966868C>T		NA		37																																																																																				C4orf50-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000314647.3		-	ENST00000531445.1	Silent	SNP	4 : 5966868 - 5966868 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	286	49
DNAH9	1770	broad.mit.edu	37	17	11696901	11696901	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11696901T>C	ENST00000454412.2	+	42	8143	c.8143T>C	c.(8143-8145)Tat>Cat	p.Y2715H	DNAH9_ENST00000262442.4_Missense_Mutation_p.Y2715H			Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2715					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAATCGAGTTTATCGGGATAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	135	136			NA	NA	17		NA											NA				11696901		2203	4300	6503	SO:0001583	missense			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174	1770	1770		Axonemal dyneins	2953	protein-coding gene	gene with protein product		603330	dynein, axonemal, heavy polypeptide 17-like, dynein, axonemal, heavy polypeptide 9	DNAH17L	NA	8812413, 11247663	Standard	NM_001372	NM_001372	NA	Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000454412.2:c.8143T>C	17.37:g.11696901T>C	ENSP00000414874:p.Tyr2715His	NA	O15064|O95494|Q9NQ28	37		.	.	.	.	.	.	.	.	.	.	T	25.2	4.611899	0.87258	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.40756	1.02;1.02	5.76	5.76	0.90799	.	0.140928	0.49916	D	0.000140	T	0.71281	0.3321	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.78283	-0.2264	10	0.87932	D	0	.	16.0843	0.81031	0.0:0.0:0.0:1.0	.	2715	Q9NYC9	DYH9_HUMAN	H	2715;2715;1297	ENSP00000262442:Y2715H;ENSP00000414874:Y2715H	ENSP00000262442:Y2715H	Y	+	1	0	DNAH9	11637626	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.841000	0.86834	2.191000	0.70037	0.533000	0.62120	TAT	DNAH9-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000252758.4		+	ENST00000454412.2	Missense_Mutation	SNP	17 : 11696901 - 11696901 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	506	88
AMBRA1	55626	broad.mit.edu	37	11	46419227	46419227	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46419227G>A	ENST00000458649.2	-	18	4088	c.3670C>T	c.(3670-3672)Cga>Tga	p.R1224*	AMBRA1_ENST00000298834.3_Nonsense_Mutation_p.R1164*|AMBRA1_ENST00000534300.1_Nonsense_Mutation_p.R1164*|AMBRA1_ENST00000314845.3_Nonsense_Mutation_p.R1134*|AMBRA1_ENST00000528950.1_Nonsense_Mutation_p.R1195*|AMBRA1_ENST00000426438.1_Nonsense_Mutation_p.R1195*|AMBRA1_ENST00000533727.1_Nonsense_Mutation_p.R1105*			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1224					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CTTAGGCCTCGCTCTGCCAGT	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	55	54			NA	NA	11		NA											NA				46419227		2202	4299	6501	SO:0001587	stop_gained			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497	55626	55626		WD repeat domain containing, DDB1 and CUL4 associated factors	25990	protein-coding gene	gene with protein product	WD repeat domain 94, DDB1 and CUL4 associated factor 3	611359			NA	17622796, 17603510, 17589504	Standard	NM_017749	NM_001267782	NA	Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.3670C>T	11.37:g.46419227G>A	ENSP00000415327:p.Arg1224*	NA	A6XN33|D3DQP8|Q86XD6|Q9H8Z0|Q9NXE7	37		.	.	.	.	.	.	.	.	.	.	G	16.65	3.182655	0.57800	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000458649;ENST00000526545;ENST00000528950	.	.	.	5.35	5.35	0.76521	.	0.127211	0.36778	N	0.002407	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.4218	0.87517	0.0:0.0:1.0:0.0	.	.	.	.	X	1134;1105;1164;1195;1164;1224;182;1195	.	ENSP00000298834:R1164X	R	-	1	2	AMBRA1	46375803	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.832000	0.69337	2.791000	0.96007	0.561000	0.74099	CGA	AMBRA1-005	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000390103.1		-	ENST00000458649.2	Nonsense_Mutation	SNP	11 : 46419227 - 46419227 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	338	58
RYR3	6263	broad.mit.edu	37	15	33895431	33895431	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33895431C>T	ENST00000389232.4	+	18	2100	c.2030C>T	c.(2029-2031)cCc>cTc	p.P677L	RYR3_ENST00000415757.3_Missense_Mutation_p.P677L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	677	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACAGCAGAGCCCACACATCTG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	159	157			NA	NA	15		NA											NA				33895431		2008	4166	6174	SO:0001583	missense				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838	6263	6263		Ion channels / Ryanodine receptors, EF-hand domain containing	10485	protein-coding gene	gene with protein product		180903			NA	8276408	Standard		NM_001036	NA	Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.2030C>T	15.37:g.33895431C>T	ENSP00000373884:p.Pro677Leu	NA	O15175|Q15412	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	32	5.168315	0.94768	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.60299	0.2;0.2	5.35	5.35	0.76521	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.062563	0.64402	D	0.000004	T	0.73705	0.3621	M	0.71581	2.175	0.80722	D	1	P;D	0.58268	0.873;0.982	B;P	0.59825	0.382;0.864	T	0.76085	-0.3088	10	0.87932	D	0	.	19.3248	0.94258	0.0:1.0:0.0:0.0	.	677;677	Q15413-2;Q15413	.;RYR3_HUMAN	L	677	ENSP00000373884:P677L;ENSP00000399610:P677L	ENSP00000354735:P677L	P	+	2	0	RYR3	31682723	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.549000	0.82163	2.796000	0.96246	0.597000	0.82753	CCC	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417514.1		+	ENST00000389232.4	Missense_Mutation	SNP	15 : 33895431 - 33895431 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	938	32
SNX1	6642	broad.mit.edu	37	15	64404870	64404870	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64404870G>T	ENST00000261889.5	+	2	279	c.258G>T	c.(256-258)caG>caT	p.Q86H	SNX1_ENST00000353874.4_Missense_Mutation_p.Q86H|SNX1_ENST00000561026.1_Missense_Mutation_p.Q86H|SNX1_ENST00000559844.1_Missense_Mutation_p.Q86H|SNX1_ENST00000560829.1_5'UTR	NM_001242933.1|NM_003099.4	NP_001229862.1|NP_003090.2	Q13596	SNX1_HUMAN	sorting nexin 1	86					cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						AAGAGCCACAGGATCTCTTTG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	68	70			NA	NA	15		NA											NA				64404870		2203	4300	6503	SO:0001583	missense			BC000357	CCDS32266.1, CCDS32268.1, CCDS58371.1	15q22.31	2011-05-03			ENSG00000028528	ENSG00000028528	6642	6642		Sorting nexins	11172	protein-coding gene	gene with protein product		601272			NA	8638121	Standard	NM_003099	NM_003099	NA	Approved	SNX1A, MGC8664, HsT17379, Vps5	uc010uio.2	Q13596		ENST00000261889.5:c.258G>T	15.37:g.64404870G>T	ENSP00000261889:p.Gln86His	NA	A6NM19|A8K6T7|O60750|O60751	37	CCDS58371.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138485	0.56936	.	.	ENSG00000028528	ENST00000380285;ENST00000353874;ENST00000261889	T;T;T	0.46451	0.87;0.87;0.87	5.66	0.545	0.17190	.	0.507362	0.16503	N	0.211577	T	0.45657	0.1353	L	0.29908	0.895	0.45403	D	0.998383	D;D;P;D	0.60575	0.972;0.988;0.934;0.972	P;D;P;P	0.72338	0.873;0.977;0.62;0.796	T	0.22138	-1.0225	10	0.34782	T	0.22	-4.0139	8.7912	0.34852	0.3806:0.0:0.6194:0.0	.	86;86;86;86	Q6ZRJ8;Q13596-2;A6NKH4;Q13596	.;.;.;SNX1_HUMAN	H	86	ENSP00000369638:Q86H;ENSP00000326668:Q86H;ENSP00000261889:Q86H	ENSP00000261889:Q86H	Q	+	3	2	SNX1	62191923	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	0.719000	0.25881	0.075000	0.16796	-0.258000	0.10820	CAG	SNX1-003	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418558.2		+	ENST00000261889.5	Missense_Mutation	SNP	15 : 64404870 - 64404870 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	181	36
NES	10763	broad.mit.edu	37	1	156640644	156640644	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156640644G>A	ENST00000368223.3	-	4	3468	c.3336C>T	c.(3334-3336)ggC>ggT	p.G1112G		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1112	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGTCAGATGGCCTGGGTCCC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	35	34			NA	NA	1		NA											NA				156640644		2202	4299	6501	SO:0001819	synonymous_variant			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688	10763	10763		Intermediate filaments type IV	7756	protein-coding gene	gene with protein product		600915			NA	1478958, 9104587	Standard	NM_006617	NM_006617	NA	Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.3336C>T	1.37:g.156640644G>A		NA	O00552|Q3LIF5|Q5SYZ6	37	CCDS1151.1																																																																																			NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000082844.2		-	ENST00000368223.3	Silent	SNP	1 : 156640644 - 156640644 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	332	50
RAB37	326624	broad.mit.edu	37	17	72733174	72733174	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72733174G>A	ENST00000392614.4	+	1	119	c.26G>A	c.(25-27)gGa>gAa	p.G9E	RAB37_ENST00000340415.3_Intron|RAB37_ENST00000528438.1_Intron|RAB37_ENST00000392615.5_Missense_Mutation_p.G9E|RAB37_ENST00000402449.4_Intron	NM_001163989.1	NP_001157461.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	0					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						GAAGCGCACGGAGCCGAGCCG	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	15	14			NA	NA	17		NA											NA				72733174		1552	3554	5106	SO:0001583	missense			BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794	326624	326624		RAB, member RAS oncogene	30268	protein-coding gene	gene with protein product		609956			NA	10722846	Standard	NM_175738	NM_175738	NA	Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282	ENST00000392614.4:c.26G>A	17.37:g.72733174G>A	ENSP00000376390:p.Gly9Glu	NA	Q8IWA7	37	CCDS54161.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.720324	0.48728	.	.	ENSG00000172794	ENST00000392615;ENST00000392614	T;T	0.61859	0.22;0.07	2.95	0.212	0.15240	.	0.826663	0.10644	N	0.650702	T	0.68284	0.2984	.	.	.	0.09310	N	0.999995	D;B	0.89917	1.0;0.0	D;B	0.97110	1.0;0.0	T	0.54050	-0.8351	9	0.49607	T	0.09	.	5.0648	0.14576	0.6935:0.0:0.3065:0.0	.	9;9	A8MZI4;A8MYT0	.;.	E	9	ENSP00000376391:G9E;ENSP00000376390:G9E	ENSP00000376390:G9E	G	+	2	0	RAB37	70244769	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	0.157000	0.16402	0.029000	0.15352	0.462000	0.41574	GGA	RAB37-007	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258878.3		+	ENST00000392614.4	Missense_Mutation	SNP	17 : 72733174 - 72733174 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	116	21
COL17A1	1308	broad.mit.edu	37	10	105813871	105813871	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105813871G>A	ENST00000353479.5	-	21	2040	c.1750C>T	c.(1750-1752)Cga>Tga	p.R584*	COL17A1_ENST00000369733.3_Nonsense_Mutation_p.R584*	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	584	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGGAACCCTCGATCTCCTGCA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	48	49			NA	NA	10		NA											NA				105813871		2203	4300	6503	SO:0001587	stop_gained			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618	1308	1308		Collagens	2194	protein-coding gene	gene with protein product		113811		BPAG2	NA	7916703	Standard	NM_130778, NM_000494	NM_000494	NA	Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.1750C>T	10.37:g.105813871G>A	ENSP00000340937:p.Arg584*	NA	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	37	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	G	36	5.775084	0.96922	.	.	ENSG00000065618	ENST00000353479;ENST00000369733;ENST00000541872	.	.	.	4.98	3.03	0.35002	.	0.194758	0.25230	N	0.032179	.	.	.	.	.	.	0.19775	N	0.999958	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.486	11.3663	0.49673	0.0:0.0:0.6726:0.3274	.	.	.	.	X	584;584;568	.	ENSP00000340937:R584X	R	-	1	2	COL17A1	105803861	0.756000	0.28383	0.090000	0.20809	0.101000	0.19017	1.045000	0.30341	1.087000	0.41251	-0.475000	0.04921	CGA	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050181.1		-	ENST00000353479.5	Nonsense_Mutation	SNP	10 : 105813871 - 105813871 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	68	13
ADAP2	55803	broad.mit.edu	37	17	29284866	29284866	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29284866G>A	ENST00000580525.1	+	11	1226	c.1143G>A	c.(1141-1143)gaG>gaA	p.E381E	ADAP2_ENST00000330889.3_Silent_p.E375E			Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	375					heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CATCAACAGAGAGTGGCCGCA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Unknown(1)	central_nervous_system(1)											67	54	59			NA	NA	17		NA											NA				29284866		2203	4300	6503	SO:0001819	synonymous_variant			AJ238994	CCDS11261.1	17q11.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000184060	ENSG00000184060	55803	55803		ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing	16487	protein-coding gene	gene with protein product		608635	centaurin, alpha 2	CENTA2	NA		Standard	NM_018404	XM_005258008	NA	Approved		uc002hfx.3	Q9NPF8	OTTHUMG00000132868	ENST00000580525.1:c.1143G>A	17.37:g.29284866G>A		NA	Q8N4Q6|Q96SD5	37																																																																																				ADAP2-005	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000444512.1		+	ENST00000580525.1	Silent	SNP	17 : 29284866 - 29284866 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	122	17
CIDEA	1149	broad.mit.edu	37	18	12262855	12262855	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12262855C>T	ENST00000320477.9	+	2	135	c.70C>T	c.(70-72)Cga>Tga	p.R24*	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	24					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						ACAGACTAAGCGAGTCCTGTT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	66	66			NA	NA	18		NA											NA				12262855		2203	4300	6503	SO:0001587	stop_gained			AF041378	CCDS11856.1	18p11.21	2008-08-01			ENSG00000176194	ENSG00000176194	1149	1149			1976	protein-coding gene	gene with protein product		604440			NA	9564035, 18509062	Standard	NM_001279	NM_001279	NA	Approved	CIDE-A	uc002kqt.4	O60543	OTTHUMG00000131691	ENST00000320477.9:c.70C>T	18.37:g.12262855C>T	ENSP00000320209:p.Arg24*	NA	B0YIY7|Q6UPR7	37	CCDS11856.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262096	0.59431	.	.	ENSG00000176194	ENST00000320477	.	.	.	5.51	1.59	0.23543	.	1.472780	0.04843	N	0.440771	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-6.8447	14.6318	0.68660	0.5299:0.4701:0.0:0.0	.	.	.	.	X	24	.	ENSP00000320209:R24X	R	+	1	2	CIDEA	12252855	0.005000	0.15991	0.002000	0.10522	0.344000	0.29017	0.786000	0.26844	0.394000	0.25230	0.655000	0.94253	CGA	CIDEA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254599.2		+	ENST00000320477.9	Nonsense_Mutation	SNP	18 : 12262855 - 12262855 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	583	97
MOGAT2	80168	broad.mit.edu	37	11	75442258	75442258	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75442258A>T	ENST00000526712.1	+	5	1459	c.686A>T	c.(685-687)gAg>gTg	p.E229V	MOGAT2_ENST00000198801.5_Missense_Mutation_p.E311V			Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	311					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					TATATCAAAGAGCTGTGCAAC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	106	111			NA	NA	11		NA											NA				75442258		2200	4293	6493	SO:0001583	missense			AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391	80168	80168			23248	protein-coding gene	gene with protein product		610270			NA	14970677	Standard	NM_025098	NM_025098	NA	Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000526712.1:c.686A>T	11.37:g.75442258A>T	ENSP00000436283:p.Glu229Val	NA	A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	37		.	.	.	.	.	.	.	.	.	.	A	20.9	4.064722	0.76187	.	.	ENSG00000166391	ENST00000198801;ENST00000526712	T;T	0.14144	2.53;2.53	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.48714	0.1515	H	0.95574	3.69	0.58432	D	0.999997	D	0.63880	0.993	D	0.64877	0.93	T	0.61178	-0.7115	10	0.44086	T	0.13	-15.3991	15.6572	0.77150	1.0:0.0:0.0:0.0	.	311	Q3SYC2	MOGT2_HUMAN	V	311;229	ENSP00000198801:E311V;ENSP00000436283:E229V	ENSP00000198801:E311V	E	+	2	0	MOGAT2	75119906	0.993000	0.37304	0.402000	0.26371	0.978000	0.69477	3.826000	0.55738	2.371000	0.80710	0.533000	0.62120	GAG	MOGAT2-004	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000383523.1		+	ENST00000526712.1	Missense_Mutation	SNP	11 : 75442258 - 75442258 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	472	93
P2RX2	22953	broad.mit.edu	37	12	133196281	133196281	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133196281G>T	ENST00000389110.3	+	3	363	c.326G>T	c.(325-327)aGc>aTc	p.S109I	P2RX2_ENST00000348800.5_Missense_Mutation_p.S109I|P2RX2_ENST00000449132.2_Intron|P2RX2_ENST00000343948.4_Missense_Mutation_p.S109I|P2RX2_ENST00000352418.4_Intron|P2RX2_ENST00000351222.4_Intron|P2RX2_ENST00000350048.5_Intron	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	109					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		AGCGTGTTCAGCATCATCACC	0.741		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	17	16			NA	NA	12		NA											NA				133196281		2191	4279	6470	SO:0001583	missense			AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848	NA	22953		Purinergic receptors, Ligand-gated ion channels / Purinergic receptors, ionotropic	15459	protein-coding gene	gene with protein product		600844	deafness, autosomal dominant 41	DFNA41	NA	10570044, 7523952, 23345450	Standard		XM_005266154	NA	Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.326G>T	12.37:g.133196281G>T	ENSP00000373762:p.Ser109Ile	NA	A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	37	CCDS31931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.18|16.18	3.049789|3.049789	0.55218|0.55218	.|.	.|.	ENSG00000187848|ENSG00000187848	ENST00000542301;ENST00000536121;ENST00000535910|ENST00000389110;ENST00000343948;ENST00000348800	.|T;T;T	.|0.03951	.|3.75;3.75;3.75	4.03|4.03	3.09|3.09	0.35607|0.35607	.|.	.|0.141387	.|0.64402	.|D	.|0.000007	T|T	0.08313|0.08313	0.0207|0.0207	M|M	0.61703|0.61703	1.905|1.905	0.42033|0.42033	D|D	0.991037|0.991037	.|P;D;P;P	.|0.53745	.|0.837;0.962;0.837;0.646	.|B;P;B;B	.|0.46825	.|0.334;0.528;0.416;0.225	T|T	0.03503|0.03503	-1.1030|-1.1030	5|10	.|0.72032	.|D	.|0.01	-32.2742|-32.2742	8.6119|8.6119	0.33808|0.33808	0.0:0.2552:0.6078:0.137|0.0:0.2552:0.6078:0.137	.|.	.|109;109;109;109	.|Q32MC3;Q9UBL9-4;Q9UBL9;Q9UBL9-2	.|.;.;P2RX2_HUMAN;.	S|I	120;95;65|109	.|ENSP00000373762:S109I;ENSP00000343339:S109I;ENSP00000345095:S109I	.|ENSP00000343339:S109I	A|S	+|+	1|2	0|0	P2RX2|P2RX2	131706354|131706354	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.696000|0.696000	0.40369|0.40369	3.291000|3.291000	0.51764|0.51764	2.072000|2.072000	0.62099|0.62099	0.511000|0.511000	0.50034|0.50034	GCA|AGC	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397542.1		+	ENST00000389110.3	Missense_Mutation	SNP	12 : 133196281 - 133196281 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	238	41
FBXO17	115290	broad.mit.edu	37	19	39437163	39437163	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39437163A>G	ENST00000292852.4	-	4	847	c.506T>C	c.(505-507)gTg>gCg	p.V169A	CTC-360G5.8_ENST00000599996.1_Silent_p.G73G|FBXO17_ENST00000595329.1_Missense_Mutation_p.V169A|SARS2_ENST00000448145.2_Missense_Mutation_p.V4A	NM_024907.5	NP_079183.4			F-box protein 17	NA										breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CTCCTGCCACACCCCTTCCAT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	66	72			NA	NA	19		NA											NA				39437163		2203	4300	6503	SO:0001583	missense			AF386743	CCDS12526.1	19q13.2	2010-07-02	2004-06-15	2004-06-16		ENSG00000269190	115290	115290		F-boxes /  other	18754	protein-coding gene	gene with protein product	F-box only protein 26	609094	F-box only protein 17	FBXO26	NA		Standard	NM_024907	NM_148169	NA	Approved	FBG4, FLJ25205, MGC9379, FLJ11798, Fbx17		Q96EF6		ENST00000292852.4:c.506T>C	19.37:g.39437163A>G	ENSP00000292852:p.Val169Ala	NA		37	CCDS12526.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.199659	0.38905	.	.	ENSG00000104835	ENST00000448145;ENST00000392076;ENST00000292852	T;T	0.32272	1.46;1.46	4.25	4.25	0.50352	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.321927	0.21695	N	0.070509	T	0.22859	0.0552	L	0.29908	0.895	.	.	.	B;B	0.22541	0.071;0.037	B;B	0.22880	0.042;0.042	T	0.27365	-1.0076	9	0.66056	D	0.02	.	9.9197	0.41457	1.0:0.0:0.0:0.0	.	4;169	E7EX87;Q96EF6	.;FBX17_HUMAN	A	4;178;169	ENSP00000399330:V4A;ENSP00000292852:V169A	ENSP00000292852:V169A	V	-	2	0	FBXO17	44129003	0.758000	0.28405	0.633000	0.29310	0.777000	0.43975	2.350000	0.44063	1.914000	0.55421	0.374000	0.22700	GTG	FBXO17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463273.1		-	ENST00000292852.4	Missense_Mutation	SNP	19 : 39437163 - 39437163 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	57
OR2AK2	391191	broad.mit.edu	37	1	248129025	248129025	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248129025G>A	ENST00000366480.3	+	1	491	c.392G>A	c.(391-393)gGt>gAt	p.G131D	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CTTCTCCTTGGTTTTATGTCT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(45;390 1181 23848 28461 41504)							NA				0													395	351	366			NA	NA	1		NA											NA				248129025		2203	4300	6503	SO:0001583	missense			BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080	391191	391191		GPCR / Class A : Olfactory receptors	19569	protein-coding gene	gene with protein product				OR2AK1P	NA		Standard	NM_001004491	NM_001004491	NA	Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.392G>A	1.37:g.248129025G>A	ENSP00000355436:p.Gly131Asp	NA	B2RND1|Q6IF05	37	CCDS31102.1	.	.	.	.	.	.	.	.	.	.	.	15.33	2.801589	0.50315	.	.	ENSG00000187080	ENST00000366480	T	0.01347	4.99	3.03	-2.6	0.06190	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.04543	0.0124	M	0.77616	2.38	0.09310	N	1	D	0.64830	0.994	P	0.58210	0.835	T	0.19095	-1.0316	9	0.87932	D	0	.	5.9086	0.19014	0.1081:0.6127:0.1617:0.1175	.	131	Q8NG84	O2AK2_HUMAN	D	131	ENSP00000355436:G131D	ENSP00000355436:G131D	G	+	2	0	OR2AK2	246195648	0.000000	0.05858	0.000000	0.03702	0.188000	0.23474	-0.134000	0.10436	-0.202000	0.10268	0.455000	0.32223	GGT	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096858.2		+	ENST00000366480.3	Missense_Mutation	SNP	1 : 248129025 - 248129025 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1246	378
ARMC12	221481	broad.mit.edu	37	6	35704922	35704922	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35704922G>A	ENST00000373866.3	+	1	59	c.37G>A	c.(37-39)Gac>Aac	p.D13N	ARMC12_ENST00000373869.3_Missense_Mutation_p.D13N|ARMC12_ENST00000288065.2_Missense_Mutation_p.D13N			Q5T9G4	CF081_HUMAN	armadillo repeat containing 12	13							binding				NA						GGGGCAACTGGACATCCGCAA	0.612		NA									OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	82	82			NA	NA	6		NA											NA				35704922		2203	4300	6503	SO:0001583	missense			AK058119	CCDS4809.1, CCDS69093.1, CCDS69094.1	6p21.31	2013-02-14	2011-12-14	2011-12-14	ENSG00000157343	ENSG00000157343	221481	221481		Armadillo repeat containing	21099	protein-coding gene	gene with protein product			chromosome 6 open reading frame 81	C6orf81	NA		Standard	NM_145028	XM_005248920	NA	Approved	FLJ25390	uc003ola.3	Q5T9G4	OTTHUMG00000014577	ENST00000373866.3:c.37G>A	6.37:g.35704922G>A	ENSP00000362973:p.Asp13Asn	857	Q8NEB2|Q96LL8	37		.	.	.	.	.	.	.	.	.	.	G	10.97	1.502963	0.26949	.	.	ENSG00000157343	ENST00000373869;ENST00000288065;ENST00000373866	T;T;T	0.45276	0.9;0.9;0.9	5.04	1.21	0.21127	.	0.539313	0.16857	N	0.196710	T	0.10594	0.0259	L	0.27053	0.805	0.21256	N	0.999746	B;B	0.14438	0.004;0.01	B;B	0.11329	0.004;0.006	T	0.27191	-1.0081	10	0.33940	T	0.23	-10.3233	6.7343	0.23401	0.3845:0.0:0.6155:0.0	.	13;13	Q5T9G4-3;Q5T9G4-2	.;.	N	13	ENSP00000362976:D13N;ENSP00000288065:D13N;ENSP00000362973:D13N	ENSP00000288065:D13N	D	+	1	0	C6orf81	35812900	0.997000	0.39634	0.983000	0.44433	0.346000	0.29079	1.065000	0.30592	0.549000	0.28973	0.449000	0.29647	GAC	ARMC12-002	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000040311.2		+	ENST00000373866.3	Missense_Mutation	SNP	6 : 35704922 - 35704922 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	393	74
MC2R	4158	broad.mit.edu	37	18	13884825	13884825	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13884825G>T	ENST00000327606.3	-	2	873	c.693C>A	c.(691-693)tgC>tgA	p.C231*		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	231					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AGGGGGCCCAGCAGAAGATGA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(141;1584 1782 35999 48227 48692)							NA				0													75	67	70			NA	NA	18		NA											NA				13884825		2203	4300	6503	SO:0001587	stop_gained				CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231	NA	4158		GPCR / Class A : Melanocortin receptors	6930	protein-coding gene	gene with protein product		607397			NA	8390157	Standard		NM_001291911	NA	Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.693C>A	18.37:g.13884825G>T	ENSP00000333821:p.Cys231*	NA	Q3MI45|Q504X6	37	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843803	0.91197	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	.	.	.	5.18	-7.84	0.01196	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.112	0.93319	0.3369:0.0:0.6631:0.0	.	.	.	.	X	231	.	ENSP00000333821:C231X	C	-	3	2	MC2R	13874825	0.045000	0.20229	0.881000	0.34555	0.989000	0.77384	-0.731000	0.04909	-1.429000	0.01987	-0.302000	0.09304	TGC	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254639.2		-	ENST00000327606.3	Nonsense_Mutation	SNP	18 : 13884825 - 13884825 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	291	48
MYH15	22989	broad.mit.edu	37	3	108183499	108183499	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108183499G>A	ENST00000273353.3	-	16	1833	c.1777C>T	c.(1777-1779)Cat>Tat	p.H593Y		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	593	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCTGCATAATGGACAAGTTCA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	153	154			NA	NA	3		NA											NA				108183499		1863	4101	5964	SO:0001583	missense			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821	22989	22989		Myosins / Myosin superfamily : Class II	31073	protein-coding gene	gene with protein product		609929	myosin, heavy polypeptide 15		NA	15014174, 15042088	Standard	XM_036988	NM_014981	NA	Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.1777C>T	3.37:g.108183499G>A	ENSP00000273353:p.His593Tyr	NA		37	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829857	0.71258	.	.	ENSG00000144821	ENST00000273353	D	0.97066	-4.23	5.53	4.66	0.58398	Myosin head, motor domain (2);	.	.	.	.	D	0.99354	0.9773	H	0.99981	5.2	0.51233	D	0.999912	D	0.89917	1.0	D	0.97110	1.0	D	0.97639	1.0147	9	0.87932	D	0	.	14.1231	0.65203	0.0722:0.0:0.9278:0.0	.	593	Q9Y2K3	MYH15_HUMAN	Y	593	ENSP00000273353:H593Y	ENSP00000273353:H593Y	H	-	1	0	MYH15	109666189	1.000000	0.71417	0.326000	0.25389	0.809000	0.45718	7.441000	0.80485	1.344000	0.45657	0.655000	0.94253	CAT	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353935.1		-	ENST00000273353.3	Missense_Mutation	SNP	3 : 108183499 - 108183499 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	936	170
NEK9	91754	broad.mit.edu	37	14	75567812	75567812	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75567812G>A	ENST00000238616.5	-	16	2043	c.1885C>T	c.(1885-1887)Ctg>Ttg	p.L629L		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	629					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		CCAACGCCCAGCTGCCCACAC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	46	45			NA	NA	14		NA											NA				75567812		2203	4300	6503	SO:0001819	synonymous_variant			AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638	91754	91754			18591	protein-coding gene	gene with protein product		609798	NIMA (never in mitosis gene a)- related kinase 9		NA	11864968	Standard	NM_033116	NM_033116	NA	Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.1885C>T	14.37:g.75567812G>A		NA	Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	37	CCDS9839.1																																																																																			NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415021.1		-	ENST00000238616.5	Silent	SNP	14 : 75567812 - 75567812 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	268	59
ISL2	64843	broad.mit.edu	37	15	76630302	76630302	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:76630302A>G	ENST00000290759.4	+	2	402	c.242A>G	c.(241-243)tAt>tGt	p.Y81C		NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	81	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						AAGCGGGACTATGTCAGGTGA	0.731		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(97;953 1391 16164 31496 36951)							NA				0													45	34	38			NA	NA	15		NA											NA				76630302		2197	4294	6491	SO:0001583	missense			AK001022	CCDS10290.1	15q24.3	2012-03-09	2007-07-13		ENSG00000159556	ENSG00000159556	64843	64843		Homeoboxes / LIM class	18524	protein-coding gene	gene with protein product		609481	ISL2 transcription factor, LIM/homeodomain, (islet-2)		NA		Standard		NM_145805	NA	Approved	FLJ10160	uc002bbw.1	Q96A47	OTTHUMG00000143723	ENST00000290759.4:c.242A>G	15.37:g.76630302A>G	ENSP00000290759:p.Tyr81Cys	NA	B3KM37	37	CCDS10290.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.140328	0.77775	.	.	ENSG00000159556	ENST00000290759	D	0.93763	-3.28	4.58	4.58	0.56647	Zinc finger, LIM-type (3);	0.000000	0.85682	D	0.000000	D	0.97760	0.9265	H	0.97340	3.985	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.98633	1.0672	10	0.87932	D	0	.	12.8378	0.57784	1.0:0.0:0.0:0.0	.	81	Q96A47	ISL2_HUMAN	C	81	ENSP00000290759:Y81C	ENSP00000290759:Y81C	Y	+	2	0	ISL2	74417357	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.190000	0.77755	1.712000	0.51347	0.248000	0.18094	TAT	ISL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000289779.1		+	ENST00000290759.4	Missense_Mutation	SNP	15 : 76630302 - 76630302 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	342	60
WDR26	80232	broad.mit.edu	37	1	224619244	224619244	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:224619244A>C	ENST00000414423.2	-	3	755	c.562T>G	c.(562-564)Tct>Gct	p.S188A	WDR26_ENST00000366852.2_Missense_Mutation_p.S188A|WDR26_ENST00000295024.6_Missense_Mutation_p.S41A	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	188	CTLH.					cytoplasm|nucleus				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		GCATGAGGAGAATGCACTAAA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	73	74			NA	NA	1		NA											NA				224619244		2203	4300	6503	SO:0001583	missense			AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923	80232	80232		WD repeat domain containing	21208	protein-coding gene	gene with protein product	GID complex subunit 7 homolog (S. cerevisiae)				NA		Standard	NM_025160	NM_001115113	NA	Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.562T>G	1.37:g.224619244A>C	ENSP00000408108:p.Ser188Ala	NA	A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	37	CCDS31037.2	.	.	.	.	.	.	.	.	.	.	A	20.2	3.943220	0.73672	.	.	ENSG00000162923	ENST00000414423;ENST00000295024;ENST00000366852;ENST00000445239	T;T	0.68624	-0.34;-0.06	5.59	5.59	0.84812	CTLH, C-terminal LisH motif (2);	0.000000	0.85682	D	0.000000	T	0.66396	0.2785	M	0.77103	2.36	0.50632	D	0.999889	B;B	0.29188	0.185;0.236	B;B	0.23716	0.032;0.048	T	0.64407	-0.6415	10	0.23302	T	0.38	.	15.7686	0.78146	1.0:0.0:0.0:0.0	.	188;188	Q9H7D7;Q9H7D7-2	WDR26_HUMAN;.	A	188;41;188;41	ENSP00000408108:S188A;ENSP00000295024:S41A	ENSP00000295024:S41A	S	-	1	0	WDR26	222685867	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.107000	0.71517	2.122000	0.65172	0.460000	0.39030	TCT	WDR26-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091760.2		-	ENST00000414423.2	Missense_Mutation	SNP	1 : 224619244 - 224619244 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	214	12
BCCIP	56647	broad.mit.edu	37	10	127516166	127516166	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127516166G>T	ENST00000299130.3	+	3	292	c.280G>T	c.(280-282)Gat>Tat	p.D94Y	BCCIP_ENST00000478798.1_3'UTR|BCCIP_ENST00000429863.2_Missense_Mutation_p.D94Y|BCCIP_ENST00000278100.6_Missense_Mutation_p.D94Y|BCCIP_ENST00000368759.5_Missense_Mutation_p.D94Y	NM_078469.2	NP_510869.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	94	Interaction with BRCA2.				cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AGAACTAACAGATCTCTTAAT	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	113	111			NA	NA	10		NA											NA				127516166		2203	4300	6503	SO:0001583	missense			AB040451	CCDS7649.1, CCDS7650.1, CCDS7651.1	10q26.2	2008-05-14	2001-11-29		ENSG00000107949	ENSG00000107949	56647	56647			978	protein-coding gene	gene with protein product		611883	BRCA2 and CDKN1A-interacting protein		NA	11313963, 10878006	Standard		NM_016567	NA	Approved	BCCIPalpha, TOK-1	uc001ljd.4	Q9P287	OTTHUMG00000019237	ENST00000299130.3:c.280G>T	10.37:g.127516166G>T	ENSP00000299130:p.Asp94Tyr	NA	Q8ND15|Q96GC4|Q9P288	37	CCDS7650.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116374	0.56505	.	.	ENSG00000107949	ENST00000278100;ENST00000299130;ENST00000368759;ENST00000429863;ENST00000392718	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.57	-0.773	0.10995	.	0.449301	0.25944	N	0.027300	T	0.69904	0.3163	M	0.92412	3.305	0.18873	N	0.999987	D;D;D;D;D	0.69078	0.993;0.992;0.995;0.997;0.979	D;D;D;D;D	0.73380	0.98;0.951;0.966;0.939;0.949	T	0.63175	-0.6696	10	0.87932	D	0	-1.4088	10.1274	0.42658	0.4075:0.0:0.5925:0.0	.	94;94;94;94;94	B4E318;B4DUS0;Q9P287-2;Q9P287-4;Q9P287	.;.;.;.;BCCIP_HUMAN	Y	94	ENSP00000278100:D94Y;ENSP00000299130:D94Y;ENSP00000357748:D94Y;ENSP00000394758:D94Y	ENSP00000278100:D94Y	D	+	1	0	BCCIP	127506156	0.828000	0.29307	0.003000	0.11579	0.970000	0.65996	1.817000	0.39002	-0.157000	0.11059	0.655000	0.94253	GAT	BCCIP-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050942.1		+	ENST00000299130.3	Missense_Mutation	SNP	10 : 127516166 - 127516166 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	470	93
CCDC138	165055	broad.mit.edu	37	2	109473334	109473334	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109473334C>A	ENST00000295124.4	+	13	1661	c.1601C>A	c.(1600-1602)gCt>gAt	p.A534D	CCDC138_ENST00000412964.2_Missense_Mutation_p.A534D	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	534										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						GAGTATCAGGCTGTTCCAGTA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	160	158			NA	NA	2		NA											NA				109473334		2203	4300	6503	SO:0001583	missense			AK057307	CCDS2080.1	2q13	2008-02-05			ENSG00000163006	ENSG00000163006	165055	165055			26531	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_144978	NM_144978	NA	Approved	FLJ32745	uc002ten.1	Q96M89	OTTHUMG00000130980	ENST00000295124.4:c.1601C>A	2.37:g.109473334C>A	ENSP00000295124:p.Ala534Asp	NA	Q05DF1|Q4ZG07|Q53TE1|Q6ZUY5|Q86VL7	37	CCDS2080.1	.	.	.	.	.	.	.	.	.	.	c	18.97	3.735870	0.69189	.	.	ENSG00000163006	ENST00000412964;ENST00000295124	T;T	0.46451	0.87;0.92	5.52	5.52	0.82312	.	0.137949	0.47852	D	0.000207	T	0.64136	0.2571	M	0.69823	2.125	0.40120	D	0.976589	D;D	0.89917	0.992;1.0	P;D	0.76575	0.9;0.988	T	0.67971	-0.5532	10	0.87932	D	0	-11.4975	15.6841	0.77396	0.0:0.8627:0.1373:0.0	.	534;534	Q96M89-2;Q96M89	.;CC138_HUMAN	D	534	ENSP00000411800:A534D;ENSP00000295124:A534D	ENSP00000295124:A534D	A	+	2	0	CCDC138	108839766	1.000000	0.71417	0.966000	0.40874	0.858000	0.48976	3.941000	0.56607	2.605000	0.88082	0.591000	0.81541	GCT	CCDC138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253593.1		+	ENST00000295124.4	Missense_Mutation	SNP	2 : 109473334 - 109473334 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	772	203
C1orf159	54991	broad.mit.edu	37	1	1021354	1021354	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1021354A>G	ENST00000379339.1	-	9	667	c.457T>C	c.(457-459)Ttc>Ctc	p.F153L	C1orf159_ENST00000448924.1_Missense_Mutation_p.F153L|C1orf159_ENST00000379319.1_Missense_Mutation_p.F117L|C1orf159_ENST00000294576.5_Missense_Mutation_p.F117L|C1orf159_ENST00000379320.1_Missense_Mutation_p.F117L|C1orf159_ENST00000421241.2_Missense_Mutation_p.F117L|C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000437760.1_Missense_Mutation_p.F117L			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159	153						integral to membrane					NA	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CTAATGAAGAACGTGCCCAGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	63	63			NA	NA	1		NA											NA				1021354		2203	4300	6503	SO:0001583	missense			AK128434	CCDS7.2	1p36.33	2008-02-05			ENSG00000131591	ENSG00000131591	54991	54991			26062	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_017891	NM_017891	NA	Approved	FLJ20584	uc001acu.2	Q96HA4	OTTHUMG00000000745	ENST00000379339.1:c.457T>C	1.37:g.1021354A>G	ENSP00000368644:p.Phe153Leu	NA	B3KQ46|Q5T2W6|Q6UX67|Q6ZR77|Q9NWV0	37		.	.	.	.	.	.	.	.	.	.	A	3.692	-0.063333	0.07273	.	.	ENSG00000131591	ENST00000379339;ENST00000448924;ENST00000294576;ENST00000421241;ENST00000379320;ENST00000379319;ENST00000434641;ENST00000457999;ENST00000437760	.	.	.	4.71	0.953	0.19590	.	0.327541	0.30392	N	0.009729	T	0.16342	0.0393	N	0.05574	-0.02	0.23435	N	0.997682	B;B;B;B;B	0.25772	0.004;0.134;0.003;0.035;0.004	B;B;B;B;B	0.28139	0.004;0.086;0.006;0.086;0.004	T	0.23511	-1.0186	9	0.23302	T	0.38	-0.9141	7.575	0.27931	0.5555:0.0:0.4445:0.0	.	117;153;117;117;117	Q5T2W7;Q96HA4;Q96HA4-4;Q5T2W9;E9PBW5	.;CA159_HUMAN;.;.;.	L	153;153;117;117;117;117;117;128;117	.	ENSP00000294576:F117L	F	-	1	0	C1orf159	1011217	0.906000	0.30813	0.004000	0.12327	0.027000	0.11550	1.415000	0.34748	-0.073000	0.12842	0.402000	0.26972	TTC	C1orf159-002	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000001851.2		-	ENST00000379339.1	Missense_Mutation	SNP	1 : 1021354 - 1021354 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	231	18
KIF24	347240	broad.mit.edu	37	9	34263156	34263156	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34263156G>A	ENST00000402558.2	-	8	1482	c.1458C>T	c.(1456-1458)atC>atT	p.I486I	KIF24_ENST00000379166.2_Silent_p.I486I|KIF24_ENST00000345050.2_Silent_p.I352I|KIF24_ENST00000379174.3_Silent_p.I352I			Q5T7B8	KIF24_HUMAN	kinesin family member 24	486					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CCAGTGCTCGGATACATTCCT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													182	168	173			NA	NA	9		NA											NA				34263156		1988	4160	6148	SO:0001819	synonymous_variant			AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638	347240	347240		Kinesins, Sterile alpha motif (SAM) domain containing	19916	protein-coding gene	gene with protein product		613747	chromosome 9 open reading frame 48	C9orf48	NA	12477932	Standard		NM_194313	NA	Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.1458C>T	9.37:g.34263156G>A		NA	Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	37	CCDS6551.2																																																																																			KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052150.5		-	ENST00000402558.2	Silent	SNP	9 : 34263156 - 34263156 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	113	18
TRPV4	59341	broad.mit.edu	37	12	110224581	110224581	+	Missense_Mutation	SNP	C	C	T	rs143835743		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110224581C>T	ENST00000418703.2	-	13	2364	c.2270G>A	c.(2269-2271)cGc>cAc	p.R757H	TRPV4_ENST00000536838.1_Missense_Mutation_p.R723H|TRPV4_ENST00000537083.1_Missense_Mutation_p.R697H|TRPV4_ENST00000346520.2_Missense_Mutation_p.R697H|TRPV4_ENST00000261740.2_Missense_Mutation_p.R757H|TRPV4_ENST00000541794.1_Missense_Mutation_p.R710H|TRPV4_ENST00000392719.2_Missense_Mutation_p.R710H|TRPV4_ENST00000544971.1_Missense_Mutation_p.R650H	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	757					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CTCCCCAGAGCGGAAGGCCTT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	89	65	73		2129,2168,1949,2270,2090	4.8	1	12	dbSNP_134	73	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	TRPV4	NM_001177428.1,NM_001177431.1,NM_001177433.1,NM_021625.4,NM_147204.2	29,29,29,29,29	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	710/825,723/838,650/765,757/872,697/812	110224581	1,13005	2203	4300	6503	SO:0001583	missense			AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199	59341	59341		Voltage-gated ion channels / Transient receptor potential cation channels, Ankyrin repeat domain containing	18083	protein-coding gene	gene with protein product	osmosensitive transient receptor potential channel 4	605427			NA	11025659, 11081638, 16382100, 20037587	Standard	NM_021625	NM_147204	NA	Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.2270G>A	12.37:g.110224581C>T	ENSP00000406191:p.Arg757His	NA	B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	37	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	C	31	5.090065	0.94149	2.27E-4	0.0	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.94729	0.8299	M	0.73372	2.23	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.988;0.997	D;D;D;P;P	0.91635	0.999;0.998;0.999;0.764;0.829	D	0.94852	0.8014	10	0.62326	D	0.03	-31.3539	16.8762	0.86052	0.0:1.0:0.0:0.0	.	697;757;650;710;723	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	H	757;757;710;697;650;697;710;723	ENSP00000406191:R757H;ENSP00000261740:R757H;ENSP00000376480:R710H;ENSP00000319003:R697H;ENSP00000443611:R650H;ENSP00000442738:R697H;ENSP00000442167:R710H;ENSP00000444336:R723H	ENSP00000261740:R757H	R	-	2	0	TRPV4	108708964	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.170000	0.77587	2.645000	0.89757	0.655000	0.94253	CGC	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403270.1		-	ENST00000418703.2	Missense_Mutation	SNP	12 : 110224581 - 110224581 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	11
FSD2	123722	broad.mit.edu	37	15	83440974	83440974	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:83440974G>T	ENST00000541889.1	-	7	1284	c.1118C>A	c.(1117-1119)tCt>tAt	p.S373Y	FSD2_ENST00000334574.8_Missense_Mutation_p.S373Y	NM_001007122.2	NP_001007123.1	A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	373	Fibronectin type-III 1.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						GACTGGAGCAGAAGGAGCTAG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	42	42			NA	NA	15		NA											NA				83440974		1882	4124	6006	SO:0001583	missense			AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628	123722	123722		Fibronectin type III domain containing	18024	protein-coding gene	gene with protein product			SPRY domain containing 1	SPRYD1	NA		Standard	NM_001007122	NM_001007122	NA	Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000541889.1:c.1118C>A	15.37:g.83440974G>T	ENSP00000444078:p.Ser373Tyr	NA	B3KVG1	37		.	.	.	.	.	.	.	.	.	.	G	17.93	3.508891	0.64410	.	.	ENSG00000186628	ENST00000334574;ENST00000541889	T;T	0.58797	0.31;1.7	5.42	4.45	0.53987	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.057505	0.64402	D	0.000001	T	0.72779	0.3503	M	0.62723	1.935	0.43852	D	0.996446	D;D	0.76494	0.987;0.999	P;D	0.74348	0.883;0.983	T	0.75733	-0.3214	10	0.66056	D	0.02	-20.8773	16.226	0.82293	0.0:0.1776:0.8224:0.0	.	373;373	B7ZM02;A1L4K1	.;FSD2_HUMAN	Y	373	ENSP00000335651:S373Y;ENSP00000444078:S373Y	ENSP00000335651:S373Y	S	-	2	0	FSD2	81238028	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	3.199000	0.51043	2.525000	0.85131	0.561000	0.74099	TCT	FSD2-001	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000418386.1		-	ENST00000541889.1	Missense_Mutation	SNP	15 : 83440974 - 83440974 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	84	21
PEX6	5190	broad.mit.edu	37	6	42933437	42933437	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42933437G>T	ENST00000304611.8	-	13	2522	c.2453C>A	c.(2452-2454)tCt>tAt	p.S818Y	PEX6_ENST00000244546.4_Missense_Mutation_p.L736M	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	818					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			CACTCCTCCAGAATCTCCACT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	191	185			NA	NA	6		NA											NA				42933437		2203	4300	6503	SO:0001583	missense			U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587	5190	5190		ATPases / AAA-type	8859	protein-coding gene	gene with protein product		601498			NA	8670792	Standard	NM_000287	NM_000287	NA	Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.2453C>A	6.37:g.42933437G>T	ENSP00000303511:p.Ser818Tyr	NA	Q8WYQ2|Q99476	37	CCDS4877.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.9|27.9	4.870906|4.870906	0.91587|0.91587	.|.	.|.	ENSG00000124587|ENSG00000124587	ENST00000244546|ENST00000304611	D|D	0.95690|0.95272	-3.78|-3.66	5.76|5.76	5.76|5.76	0.90799|0.90799	.|ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97498|0.97498	0.9181|0.9181	M|M	0.85859|0.85859	2.78|2.78	0.37998|0.37998	D|D	0.934132|0.934132	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.98231|0.98231	1.0483|1.0483	7|10	0.44086|0.87932	T|D	0.13|0	-15.747|-15.747	19.5876|19.5876	0.95496|0.95496	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|818	.|Q13608	.|PEX6_HUMAN	M|Y	736|818	ENSP00000244546:L736M|ENSP00000303511:S818Y	ENSP00000244546:L736M|ENSP00000303511:S818Y	L|S	-|-	1|2	2|0	PEX6|PEX6	43041415|43041415	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.842000|9.842000	0.99487|0.99487	2.724000|2.724000	0.93272|0.93272	0.563000|0.563000	0.77884|0.77884	CTG|TCT	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040569.1		-	ENST00000304611.8	Missense_Mutation	SNP	6 : 42933437 - 42933437 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1923	310
PRDX1	5052	broad.mit.edu	37	1	45977046	45977046	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45977046C>A	ENST00000262746.1	-	6	894	c.555G>T	c.(553-555)aaG>aaT	p.K185N	PRDX1_ENST00000319248.8_Missense_Mutation_p.K185N|PRDX1_ENST00000372079.1_Missense_Mutation_p.K83N	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1	185					cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					GGACATCAGGCTTGATGGTAT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													199	205	203			NA	NA	1		NA											NA				45977046		2203	4300	6503	SO:0001583	missense			BC021683	CCDS522.1	1p34.1	2008-02-05			ENSG00000117450	ENSG00000117450	5052	5052			9352	protein-coding gene	gene with protein product		176763		PAGA	NA	8496166	Standard	NM_181697	NM_181697	NA	Approved	NKEFA	uc021omw.1	Q06830	OTTHUMG00000007738	ENST00000262746.1:c.555G>T	1.37:g.45977046C>A	ENSP00000262746:p.Lys185Asn	NA	B5BU26|D3DPZ8|P35703|Q2V576|Q5T154|Q5T155	37	CCDS522.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006155	0.74932	.	.	ENSG00000117450	ENST00000262746;ENST00000319248;ENST00000372079	T;T;T	0.34072	1.38;1.38;1.38	5.04	3.15	0.36227	Peroxiredoxin, C-terminal (1);Thioredoxin-like fold (1);	0.120922	0.56097	D	0.000025	T	0.43166	0.1235	M	0.84433	2.695	0.58432	D	0.999997	B	0.20780	0.048	B	0.22601	0.04	T	0.49844	-0.8896	10	0.62326	D	0.03	-6.1472	11.6022	0.51010	0.0:0.8526:0.0:0.1474	.	185	Q06830	PRDX1_HUMAN	N	185;185;83	ENSP00000262746:K185N;ENSP00000361152:K185N;ENSP00000361150:K83N	ENSP00000262746:K185N	K	-	3	2	PRDX1	45749633	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.067000	0.30616	1.131000	0.42111	-0.379000	0.06801	AAG	PRDX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000020845.1		-	ENST00000262746.1	Missense_Mutation	SNP	1 : 45977046 - 45977046 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1363	235
DST	667	broad.mit.edu	37	6	56394248	56394248	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56394248G>A	ENST00000244364.6	-	47	9931	c.9724C>T	c.(9724-9726)Cgg>Tgg	p.R3242W	DST_ENST00000421834.2_Missense_Mutation_p.R3568W|DST_ENST00000340834.4_5'UTR|DST_ENST00000446842.2_Missense_Mutation_p.R5330W|DST_ENST00000370769.4_Missense_Mutation_p.R5656W|DST_ENST00000370754.5_Missense_Mutation_p.R5834W|DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Intron	NM_001144769.2|NM_001144770.1|NM_015548.4|NM_183380.3	NP_001138241.1|NP_001138242.1|NP_056363.2|NP_899236.1	Q03001	DYST_HUMAN	dystonin	5654					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			caaaataCCCGAAGTTCAGAC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	35	36			NA	NA	6		NA											NA				56394248		1841	4102	5943	SO:0001583	missense			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914	667	667		EF-hand domain containing	1090	protein-coding gene	gene with protein product		113810	bullous pemphigoid antigen 1, 230/240kDa	BPAG1	NA	2461961, 2276744	Standard	NM_001723	NM_001144770	NA	Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000244364.6:c.9724C>T	6.37:g.56394248G>A	ENSP00000244364:p.Arg3242Trp	NA	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	37	CCDS47443.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.461646	0.26248	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842	T;T;T;T;T	0.62788	1.25;-0.0;0.0;1.25;1.25	5.9	5.01	0.66863	.	0.182958	0.26122	N	0.026212	T	0.44932	0.1317	L	0.36672	1.1	0.27764	N	0.943715	D;B;B;B;B	0.65815	0.995;0.282;0.282;0.004;0.085	B;B;B;B;B	0.44315	0.446;0.018;0.018;0.002;0.013	T	0.55192	-0.8179	9	0.72032	D	0.01	.	16.0025	0.80306	0.0:0.0:0.8605:0.1395	.	3568;5656;5834;5654;3242	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	W	3242;5834;5656;3568;5330	ENSP00000244364:R3242W;ENSP00000359790:R5834W;ENSP00000359805:R5656W;ENSP00000400883:R3568W;ENSP00000393645:R5330W	ENSP00000244364:R3242W	R	-	1	2	DST	56502207	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.071000	0.64382	1.444000	0.47605	0.650000	0.86243	CGG	DST-005	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041022.4		-	ENST00000244364.6	Missense_Mutation	SNP	6 : 56394248 - 56394248 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	134	27
MCPH1	79648	broad.mit.edu	37	8	6302292	6302292	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6302292G>T	ENST00000344683.5	+	8	1125	c.1049G>T	c.(1048-1050)aGg>aTg	p.R350M	MCPH1_ENST00000519480.1_Missense_Mutation_p.R350M|MCPH1_ENST00000522905.1_Missense_Mutation_p.R302M	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	350						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		TCAAGACCCAGGAGTTCCTCA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(95;1448 1467 8277 34473 35819)							NA				0													44	41	42			NA	NA	8		NA											NA				6302292		1881	4119	6000	SO:0001583	missense			AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316	79648	79648			6954	protein-coding gene	gene with protein product	BRCT-repeat inhibitor of TERT expression 1	607117	microcephaly, primary autosomal recessive 1		NA	9683597, 17925396	Standard	NM_024596	NM_024596	NA	Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.1049G>T	8.37:g.6302292G>T	ENSP00000342924:p.Arg350Met	NA	Q66GU1|Q9H9C7	37	CCDS43689.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.789857	0.31685	.	.	ENSG00000147316	ENST00000344683;ENST00000519480;ENST00000522905	T;T;T	0.10005	2.92;2.92;2.92	5.29	-10.6	0.00265	.	1.665360	0.02325	N	0.073407	T	0.08403	0.0209	L	0.28274	0.84	0.09310	N	1	P;B;P	0.36599	0.56;0.075;0.56	B;B;B	0.44315	0.446;0.091;0.446	T	0.19257	-1.0311	10	0.27785	T	0.31	-0.9165	5.3618	0.16091	0.1852:0.0909:0.5436:0.1803	.	302;350;350	E9PH63;Q8NEM0;E9PGU5	.;MCPH1_HUMAN;.	M	350;350;302	ENSP00000342924:R350M;ENSP00000430962:R350M;ENSP00000430768:R302M	ENSP00000342924:R350M	R	+	2	0	MCPH1	6289700	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.526000	0.02229	-2.319000	0.00643	-0.961000	0.02630	AGG	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374532.2		+	ENST00000344683.5	Missense_Mutation	SNP	8 : 6302292 - 6302292 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	232	31
CYP2C9	1559	broad.mit.edu	37	10	96707611	96707611	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96707611G>A	ENST00000260682.6	+	4	569	c.557G>A	c.(556-558)cGt>cAt	p.R186H		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	186					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TTCCATAAACGTTTTGATTAT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(54;1266 1406 16072 35076)							NA				0													121	121	121			NA	NA	10		NA											NA				96707611		2203	4300	6503	SO:0001583	missense			M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109	1559	1559		Cytochrome P450s	2623	protein-coding gene	gene with protein product		601130	cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9	CYP2C10	NA	2009263, 7841444	Standard	NM_000771	NM_000771	NA	Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.557G>A	10.37:g.96707611G>A	ENSP00000260682:p.Arg186His	NA	P11713|Q16756|Q16872	37	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	16.36	3.100572	0.56183	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.14022	2.54	3.55	3.55	0.40652	.	0.000000	0.64402	U	0.000001	T	0.21468	0.0517	M	0.86864	2.845	0.39244	D	0.963903	P;P	0.49447	0.924;0.924	B;B	0.40228	0.323;0.323	T	0.36187	-0.9758	10	0.46703	T	0.11	.	12.9549	0.58421	0.0:0.0:1.0:0.0	.	186;186	Q5VX92;P11712	.;CP2C9_HUMAN	H	186	ENSP00000260682:R186H	ENSP00000260682:R186H	R	+	2	0	CYP2C9	96697601	1.000000	0.71417	0.742000	0.31022	0.906000	0.53458	4.197000	0.58413	1.955000	0.56771	0.491000	0.48974	CGT	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049501.1		+	ENST00000260682.6	Missense_Mutation	SNP	10 : 96707611 - 96707611 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	769	70
ALDH16A1	126133	broad.mit.edu	37	19	49971803	49971803	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49971803C>A	ENST00000293350.4	+	15	2267	c.2104C>A	c.(2104-2106)Ctg>Atg	p.L702M	ALDH16A1_ENST00000455361.2_Missense_Mutation_p.L651M|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.L539M|CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.L537M	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	702							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CTGTCCTCTGCTGGCCCTGGA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	100	99			NA	NA	19		NA											NA				49971803		2203	4300	6503	SO:0001583	missense			AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618	126133	126133		Aldehyde dehydrogenases	28114	protein-coding gene	gene with protein product		613358			NA		Standard	NM_153329	NM_153329	NA	Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.2104C>A	19.37:g.49971803C>A	ENSP00000293350:p.Leu702Met	NA	C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	37	CCDS12766.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.356634	0.24598	.	.	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	4.21	1.93	0.25924	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.190007	0.45606	D	0.000358	T	0.31482	0.0798	L	0.41492	1.28	0.22911	N	0.998579	P;D;P	0.53885	0.923;0.963;0.937	P;P;P	0.54629	0.621;0.757;0.739	T	0.06679	-1.0813	10	0.48119	T	0.1	-10.9114	4.8466	0.13516	0.0:0.6511:0.217:0.1319	.	539;651;702	F5H4B6;B4DLQ1;Q8IZ83	.;.;A16A1_HUMAN	M	702;651;539;537	ENSP00000293350:L702M;ENSP00000410142:L651M;ENSP00000445088:L539M;ENSP00000398675:L537M	ENSP00000293350:L702M	L	+	1	2	ALDH16A1	54663615	0.969000	0.33509	0.985000	0.45067	0.028000	0.11728	2.083000	0.41615	0.450000	0.26774	-0.494000	0.04653	CTG	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465358.1		+	ENST00000293350.4	Missense_Mutation	SNP	19 : 49971803 - 49971803 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1011	193
TNNI1	7135	broad.mit.edu	37	1	201382201	201382201	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201382201G>A	ENST00000361379.4	-	6	330	c.238C>T	c.(238-240)Cga>Tga	p.R80*	TNNI1_ENST00000555948.1_Nonsense_Mutation_p.R80*|TNNI1_ENST00000367312.1_Nonsense_Mutation_p.R80*|TNNI1_ENST00000336092.4_Nonsense_Mutation_p.R80*	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN	troponin I type 1 (skeletal, slow)	80					muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						ATGTCGTATCGCTCCTCATCC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													324	287	299			NA	NA	1		NA											NA				201382201		2203	4300	6503	SO:0001587	stop_gained			BC012600	CCDS1411.1	1q31.3	2008-02-05	2005-09-12		ENSG00000159173	ENSG00000159173	7135	7135			11945	protein-coding gene	gene with protein product		191042	troponin I, skeletal, slow		NA	2365354, 8144655	Standard	NM_003281	NM_003281	NA	Approved		uc021phd.1	P19237	OTTHUMG00000035736	ENST00000361379.4:c.238C>T	1.37:g.201382201G>A	ENSP00000354488:p.Arg80*	NA	A6NEH3|A8MSJ0|Q659A5|Q6FGS7|Q6FGW1|Q6ICU2|Q86T57|Q96DT9	37	CCDS1411.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398269	0.83120	.	.	ENSG00000159173	ENST00000358712;ENST00000361379;ENST00000336092;ENST00000413495;ENST00000555948;ENST00000367312;ENST00000555340;ENST00000556362	.	.	.	5.11	4.09	0.47781	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2465	10.757	0.46243	0.0:0.0:0.281:0.719	.	.	.	.	X	80;80;80;80;80;80;59;80	.	ENSP00000337022:R80X	R	-	1	2	TNNI1	199648824	1.000000	0.71417	0.979000	0.43373	0.285000	0.27093	2.223000	0.42936	1.010000	0.39314	0.561000	0.74099	CGA	TNNI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087001.1		-	ENST00000361379.4	Nonsense_Mutation	SNP	1 : 201382201 - 201382201 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2110	382
PPP2CB	5516	broad.mit.edu	37	8	30655229	30655229	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30655229G>A	ENST00000221138.4	-	3	804	c.354C>T	c.(352-354)caC>caT	p.H118H	PPP2CB_ENST00000518564.1_Intron	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta isozyme	118					protein dephosphorylation	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole	metal ion binding	p.H118H(1)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	GTCGGCTTTCGTGATTTCCTC	0.363		NA												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)											85	75	79			NA	NA	8		NA											NA				30655229		2203	4300	6503	SO:0001819	synonymous_variant				CCDS6079.1	8p12	2011-05-24	2010-03-05		ENSG00000104695	ENSG00000104695	5516	5516	3.1.3.16	Serine/threonine phosphatases / Protein phosphatase, catalytic subunits	9300	protein-coding gene	gene with protein product	protein phosphatase 2A catalytic subunit, beta isoform	176916	protein phosphatase 2 (formerly 2A), catalytic subunit, beta isoform		NA	8383590	Standard	NM_001009552	NM_001009552	NA	Approved	PP2Abeta	uc003xik.3	P62714	OTTHUMG00000163949	ENST00000221138.4:c.354C>T	8.37:g.30655229G>A		NA	D3DSV4|P11082|Q6FHK5	37	CCDS6079.1																																																																																			PPP2CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376527.2		-	ENST00000221138.4	Silent	SNP	8 : 30655229 - 30655229 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	258	40
IGSF9B	22997	broad.mit.edu	37	11	133791235	133791235	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133791235T>G	ENST00000533871.2	-	18	2615	c.2385A>C	c.(2383-2385)gaA>gaC	p.E795D	IGSF9B_ENST00000321016.8_Missense_Mutation_p.E795D	NM_001277285.1	NP_001264214.1	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	795						integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CGTCGGAGGATTCTGACGGCG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	23	23			NA	NA	11		NA											NA				133791235		2053	4193	6246	SO:0001583	missense			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20			22997	22997		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	32326	protein-coding gene	gene with protein product		613773			NA		Standard	XM_290502	NM_001277285	NA	Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000533871.2:c.2385A>C	11.37:g.133791235T>G	ENSP00000436552:p.Glu795Asp	NA		37		.	.	.	.	.	.	.	.	.	.	T	8.165	0.790320	0.16258	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.65916	0.15;-0.18	4.47	-0.231	0.13086	.	0.000000	0.44902	D	0.000401	T	0.47637	0.1456	L	0.36672	1.1	0.30701	N	0.750329	D	0.56521	0.976	P	0.45232	0.474	T	0.54118	-0.8341	10	0.21540	T	0.41	.	9.1134	0.36741	0.0:0.54:0.0:0.46	.	795	Q9UPX0	TUTLB_HUMAN	D	795;637	ENSP00000317980:E795D;ENSP00000436552:E637D	ENSP00000317980:E795D	E	-	3	2	IGSF9B	133296445	0.984000	0.35163	0.976000	0.42696	0.158000	0.22134	0.228000	0.17814	0.131000	0.18576	-0.337000	0.08149	GAA	IGSF9B-002	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000471431.1		-	ENST00000533871.2	Missense_Mutation	SNP	11 : 133791235 - 133791235 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	175	44
CACNA1S	779	broad.mit.edu	37	1	201035407	201035407	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201035407G>T	ENST00000362061.3	-	21	2921	c.2695C>A	c.(2695-2697)Ctg>Atg	p.L899M	CACNA1S_ENST00000367338.3_Missense_Mutation_p.L899M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	899					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGCACCCTCAGCACCCTCAGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	73	73			NA	NA	1		NA											NA				201035407		2203	4300	6503	SO:0001583	missense			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248	779	779		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3	NA	7916735, 16382099	Standard	NM_000069	NM_000069	NA	Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.2695C>A	1.37:g.201035407G>T	ENSP00000355192:p.Leu899Met	NA	A4IF51|B1ALM2|Q12896|Q13934	37	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305376	0.60305	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.99089	-5.41;-5.41	3.91	2.98	0.34508	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.99221	0.9729	M	0.88906	2.99	0.44976	D	0.997993	D	0.63046	0.992	D	0.74674	0.984	D	0.99572	1.0971	10	0.87932	D	0	.	11.5358	0.50636	0.0904:0.0:0.9096:0.0	.	899	Q13698	CAC1S_HUMAN	M	899	ENSP00000355192:L899M;ENSP00000356307:L899M	ENSP00000355192:L899M	L	-	1	2	CACNA1S	199302030	1.000000	0.71417	0.985000	0.45067	0.847000	0.48162	3.109000	0.50345	0.741000	0.32674	0.455000	0.32223	CTG	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087049.1		-	ENST00000362061.3	Missense_Mutation	SNP	1 : 201035407 - 201035407 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	633	103
FAM83B	222584	broad.mit.edu	37	6	54805335	54805335	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54805335C>A	ENST00000306858.7	+	5	1682	c.1566C>A	c.(1564-1566)ggC>ggA	p.G522G		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	522										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GATTTGAGGGCTATGATAATC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	107	107			NA	NA	6		NA											NA				54805335		2203	4300	6503	SO:0001819	synonymous_variant			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143	222584	222584			21357	protein-coding gene	gene with protein product			chromosome 6 open reading frame 143	C6orf143	NA	22886302	Standard	XM_294139	NM_001010872	NA	Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1566C>A	6.37:g.54805335C>A		NA	Q2M1P3|Q96DQ2	37	CCDS34479.1																																																																																			FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040994.1		+	ENST00000306858.7	Silent	SNP	6 : 54805335 - 54805335 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	401	15
HOXD13	3239	broad.mit.edu	37	2	176959324	176959324	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176959324T>G	ENST00000392539.3	+	2	898	c.898T>G	c.(898-900)Ttc>Gtc	p.F300V		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	300					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		CATTAACAAATTCATTAACAA	0.478		NA	T	NUP98	AML*									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		2	2q31-q32	3239	homeo box D13		L	0													110	100	104			NA	NA	2		NA											NA				176959324		2203	4300	6503	SO:0001583	missense			AF005219	CCDS2264.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128714	ENSG00000128714	3239	3239		Homeoboxes / ANTP class : HOXL subclass	5136	protein-coding gene	gene with protein product		142989	homeo box D13	HOX4I, SPD	NA	2574852, 1973146	Standard		NM_000523	NA	Approved		uc002ukf.1	P35453	OTTHUMG00000132431	ENST00000392539.3:c.898T>G	2.37:g.176959324T>G	ENSP00000376322:p.Phe300Val	NA		37	CCDS2264.2	.	.	.	.	.	.	.	.	.	.	T	23.2	4.384994	0.82792	.	.	ENSG00000128714	ENST00000392539	D	0.96011	-3.88	4.99	4.99	0.66335	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000003	D	0.97999	0.9341	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99050	1.0827	10	0.87932	D	0	.	15.1492	0.72684	0.0:0.0:0.0:1.0	.	300	P35453	HXD13_HUMAN	V	300	ENSP00000376322:F300V	ENSP00000376322:F300V	F	+	1	0	HOXD13	176667570	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.825000	0.86693	2.234000	0.73211	0.533000	0.62120	TTC	HOXD13-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359256.1		+	ENST00000392539.3	Missense_Mutation	SNP	2 : 176959324 - 176959324 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	22
MXRA5	25878	broad.mit.edu	37	X	3240577	3240577	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3240577G>T	ENST00000217939.6	-	5	3303	c.3149C>A	c.(3148-3150)aCt>aAt	p.T1050N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1050						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGTGTCTTGAGTGCTTAGACT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	153	160			NA	NA	X		NA											NA				3240577		2203	4300	6503	SO:0001583	missense			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825	25878	25878		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	7539	protein-coding gene	gene with protein product	adlican				NA	12101425	Standard	NM_015419	NM_015419	NA	Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3149C>A	X.37:g.3240577G>T	ENSP00000217939:p.Thr1050Asn	NA	Q6P1M7|Q9Y3Y8	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	g	12.44	1.939047	0.34189	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.68181	-0.31	3.29	3.29	0.37713	.	0.381301	0.18935	U	0.127103	T	0.55689	0.1936	L	0.32530	0.975	0.09310	N	1	P	0.50528	0.936	P	0.45343	0.477	T	0.51466	-0.8702	10	0.72032	D	0.01	.	7.2354	0.26067	0.2147:0.0:0.7853:0.0	.	1050	Q9NR99	MXRA5_HUMAN	N	1050	ENSP00000217939:T1050N	ENSP00000217939:T1050N	T	-	2	0	MXRA5	3250577	0.001000	0.12720	0.020000	0.16555	0.052000	0.14988	0.470000	0.22084	1.440000	0.47531	0.522000	0.50473	ACT	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055655.2		-	ENST00000217939.6	Missense_Mutation	SNP	X : 3240577 - 3240577 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	535	126
RB1	5925	broad.mit.edu	37	13	48916833	48916833	+	Missense_Mutation	SNP	G	G	T	rs67045046		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:48916833G>T	ENST00000267163.4	+	3	501	c.363G>T	c.(361-363)caG>caT	p.Q121H		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	121					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(5)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTGAGCTACAGAAAAACATAG	0.348		6	D, Mis, N, F, S		retinoblastoma, sarcoma, breast, small cell lung	retinoblastoma, sarcoma, breast, small cell lung			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		L, E, M, O	20	Whole gene deletion(15)|Unknown(5)	bone(10)|breast(6)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)											78	85	82			NA	NA	13		NA											NA				48916833		2203	4300	6503	SO:0001583	missense	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687	5925	5925		Endogenous ligands	9884	protein-coding gene	gene with protein product	prepro-retinoblastoma-associated protein, protein phosphatase 1, regulatory subunit 130	614041	osteosarcoma	OSRC	NA	1857421, 15057823	Standard		NM_000321	NA	Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.363G>T	13.37:g.48916833G>T	ENSP00000267163:p.Gln121His	NA	A8K5E3|P78499|Q5VW46|Q8IZL4	37	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561901	0.65538	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	T	0.73575	-0.76	5.39	3.65	0.41850	Domain of unknown function DUF3452, retinoblastoma-associated (1);	0.149165	0.47093	D	0.000243	T	0.73969	0.3655	L	0.36672	1.1	0.32600	N	0.52605	D	0.57571	0.98	P	0.57425	0.82	T	0.78432	-0.2206	10	0.72032	D	0.01	.	8.6149	0.33826	0.1784:0.0:0.8216:0.0	.	121	P06400	RB_HUMAN	H	100;121	ENSP00000267163:Q121H	ENSP00000267163:Q121H	Q	+	3	2	RB1	47814834	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	2.421000	0.44688	0.745000	0.32763	0.603000	0.83216	CAG	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044884.1		+	ENST00000267163.4	Missense_Mutation	SNP	13 : 48916833 - 48916833 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	306	19
TXLNB	167838	broad.mit.edu	37	6	139564024	139564024	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139564024G>A	ENST00000358430.3	-	10	1926	c.1694C>T	c.(1693-1695)gCc>gTc	p.A565V	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	565						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GCCTCCTTCGGCTTCAGCCTG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	52	51			NA	NA	6		NA											NA				139564024		2203	4300	6503	SO:0001583	missense				CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440	167838	167838			21617	protein-coding gene	gene with protein product		611438	chromosome 6 open reading frame 198	C6orf198	NA	15184072	Standard	NM_153235	NM_153235	NA	Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.1694C>T	6.37:g.139564024G>A	ENSP00000351206:p.Ala565Val	NA	Q5VTF3|Q76L25|Q86T52|Q8N3S2	37	CCDS34545.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.626650	0.28978	.	.	ENSG00000164440	ENST00000358430	T	0.15256	2.44	5.07	2.3	0.28687	.	1.392830	0.04153	N	0.321664	T	0.03651	0.0104	L	0.27053	0.805	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.37911	-0.9685	9	.	.	.	0.428	5.143	0.14969	0.1847:0.1703:0.645:0.0	.	565	Q8N3L3	TXLNB_HUMAN	V	565	ENSP00000351206:A565V	.	A	-	2	0	TXLNB	139605717	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.187000	0.16998	0.300000	0.22699	0.655000	0.94253	GCC	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042458.1		-	ENST00000358430.3	Missense_Mutation	SNP	6 : 139564024 - 139564024 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	413	33
HOXA2	3199	broad.mit.edu	37	7	27140427	27140427	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27140427C>T	ENST00000222718.5	-	2	1359	c.1049G>A	c.(1048-1050)aGt>aAt	p.S350N		NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	350						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						ATCTACGGGACTGTCGAGGGA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	85	86			NA	NA	7		NA											NA				27140427		2203	4300	6503	SO:0001583	missense				CCDS5403.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105996	ENSG00000105996	3199	3199		Homeoboxes / ANTP class : HOXL subclass	5103	protein-coding gene	gene with protein product		604685	homeo box A2	HOX1K	NA	1358459	Standard		NM_006735	NA	Approved		uc003syh.3	O43364	OTTHUMG00000023208	ENST00000222718.5:c.1049G>A	7.37:g.27140427C>T	ENSP00000222718:p.Ser350Asn	NA	A1L4K3|B2RMW3	37	CCDS5403.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209575	0.79240	.	.	ENSG00000105996	ENST00000222718	T	0.11169	2.8	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.40886	0.1135	M	0.86651	2.83	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.47623	-0.9103	10	0.87932	D	0	.	18.3861	0.90466	0.0:1.0:0.0:0.0	.	350	O43364	HXA2_HUMAN	N	350	ENSP00000222718:S350N	ENSP00000222718:S350N	S	-	2	0	HOXA2	27106952	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.629000	0.67798	2.492000	0.84095	0.655000	0.94253	AGT	HOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358508.2		-	ENST00000222718.5	Missense_Mutation	SNP	7 : 27140427 - 27140427 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	695	124
BLM	641	broad.mit.edu	37	15	91346826	91346826	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91346826T>G	ENST00000560509.1	+	17	3409				BLM_ENST00000355112.3_Missense_Mutation_p.L1145R|BLM_ENST00000560136.1_3'UTR			P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	NA					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GCCGAAAGACTTTTTAAAAAG	0.383		NA	Mis, N, F			leukemia, lymphoma, skin squamous cell , other cancers		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		L, E	0													89	89	89			NA	NA	15		NA											NA				91346826		2198	4298	6496	SO:0001627	intron_variant	Familial Cancer Database		U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299	641	641			1058	protein-coding gene	gene with protein product		604610	Bloom syndrome		NA	9388193	Standard		NM_000057	NA	Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000560509.1:c.3358+5259T>G	15.37:g.91346826T>G		NA	Q52M96	37		.	.	.	.	.	.	.	.	.	.	T	23.3	4.405061	0.83230	.	.	ENSG00000197299	ENST00000355112;ENST00000536925;ENST00000543977	T	0.56103	0.48	5.65	5.65	0.86999	RQC domain (2);	0.000000	0.85682	D	0.000000	T	0.72358	0.3450	M	0.90425	3.115	0.80722	D	1	P	0.51791	0.948	P	0.55011	0.766	T	0.79196	-0.1903	10	0.87932	D	0	-1.4901	13.8364	0.63413	0.0:0.0:0.0:1.0	.	1145	P54132	BLM_HUMAN	R	1145;775;332	ENSP00000347232:L1145R	ENSP00000347232:L1145R	L	+	2	0	BLM	89147830	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.364000	0.79526	2.163000	0.67991	0.459000	0.35465	CTT	BLM-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000417940.1		+	ENST00000560509.1	Intron	SNP	15 : 91346826 - 91346826 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	88
GLB1L2	89944	broad.mit.edu	37	11	134244527	134244527	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134244527G>A	ENST00000535456.2	+	18	1927	c.1739G>A	c.(1738-1740)gGc>gAc	p.G580D	GLB1L2_ENST00000339772.7_Missense_Mutation_p.G580D|GLB1L2_ENST00000389881.3_Missense_Mutation_p.G580D|GLB1L2_ENST00000529077.1_3'UTR	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	580					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TTCATCAATGGCCAGAACCTT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	148	148			NA	NA	11		NA											NA				134244527		2201	4297	6498	SO:0001583	missense				CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328	89944	89944			25129	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_138342	NM_138342	NA	Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.1739G>A	11.37:g.134244527G>A	ENSP00000444628:p.Gly580Asp	NA	A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	37	CCDS31724.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.040103|4.040103	0.75732|0.75732	.|.	.|.	ENSG00000149328|ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881|ENST00000525089	D;D;D|.	0.99507|.	-6.04;-6.04;-6.04|.	5.61|5.61	3.72|3.72	0.42706|0.42706	Galactose-binding domain-like (1);|.	0.164458|.	0.53938|.	N|.	0.000051|.	T|.	0.75064|.	0.3799|.	M|M	0.83774|0.83774	2.66|2.66	0.54753|0.54753	D|D	0.999988|0.999988	P|.	0.52842|.	0.956|.	P|.	0.56474|.	0.799|.	T|.	0.75648|.	-0.3245|.	10|.	0.66056|.	D|.	0.02|.	-6.4414|-6.4414	12.2901|12.2901	0.54812|0.54812	0.141:0.0:0.859:0.0|0.141:0.0:0.859:0.0	.|.	580|.	Q8IW92|.	GLBL2_HUMAN|.	D|X	580|518	ENSP00000344659:G580D;ENSP00000444628:G580D;ENSP00000374531:G580D|.	ENSP00000344659:G580D|.	G|W	+|+	2|3	0|0	GLB1L2|GLB1L2	133749737|133749737	1.000000|1.000000	0.71417|0.71417	0.133000|0.133000	0.22050|0.22050	0.995000|0.995000	0.86356|0.86356	4.583000|4.583000	0.60964|0.60964	0.705000|0.705000	0.31890|0.31890	0.655000|0.655000	0.94253|0.94253	GGC|TGG	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393629.2		+	ENST00000535456.2	Missense_Mutation	SNP	11 : 134244527 - 134244527 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	752	115
F13A1	2162	broad.mit.edu	37	6	6305593	6305593	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:6305593A>G	ENST00000264870.3	-	3	575	c.310T>C	c.(310-312)Tac>Cac	p.Y104H		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	104					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CCAATGACGTATTCCACCCTG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	143	156			NA	NA	6		NA											NA				6305593		2203	4300	6503	SO:0001583	missense			M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491	2162	2162		Transglutaminases	3531	protein-coding gene	gene with protein product		134570		F13A	NA		Standard	NM_000129	NM_000129	NA	Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.310T>C	6.37:g.6305593A>G	ENSP00000264870:p.Tyr104His	NA	Q59HA7|Q8N6X2|Q96P24|Q9BX29	37	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.224353	0.79576	.	.	ENSG00000124491	ENST00000264870;ENST00000414279;ENST00000431222	D;D	0.84800	-1.9;-1.9	5.57	5.57	0.84162	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.061981	0.64402	D	0.000002	D	0.88706	0.6509	M	0.63428	1.95	0.43637	D	0.996032	D	0.76494	0.999	D	0.75020	0.985	D	0.89982	0.4101	10	0.62326	D	0.03	.	13.6975	0.62589	1.0:0.0:0.0:0.0	.	104	P00488	F13A_HUMAN	H	104;104;142	ENSP00000264870:Y104H;ENSP00000413334:Y104H	ENSP00000264870:Y104H	Y	-	1	0	F13A1	6250592	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.254000	0.65457	2.117000	0.64856	0.528000	0.53228	TAC	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039756.3		-	ENST00000264870.3	Missense_Mutation	SNP	6 : 6305593 - 6305593 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	314	50
ACTN2	88	broad.mit.edu	37	1	236850067	236850067	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236850067C>A	ENST00000366578.4	+	1	260	c.94C>A	c.(94-96)Ctg>Atg	p.L32M	ACTN2_ENST00000542672.1_Missense_Mutation_p.L32M|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	32	Actin-binding.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CGACCTGCTCCTGGACCCAGC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	40	42			NA	NA	1		NA											NA				236850067		2203	4300	6503	SO:0001583	missense			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522	88	88		EF-hand domain containing	164	protein-coding gene	gene with protein product		102573			NA	1339456	Standard	NM_001103	NM_001103	NA	Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.94C>A	1.37:g.236850067C>A	ENSP00000355537:p.Leu32Met	NA	B1ANE4|Q86TF4|Q86TI8	37	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475923	0.63737	.	.	ENSG00000077522	ENST00000542672;ENST00000366578	T;T	0.62498	0.02;0.02	3.81	3.81	0.43845	Calponin homology domain (1);	0.000000	0.64402	D	0.000004	T	0.75451	0.3851	M	0.86805	2.84	0.80722	D	1	D;P	0.54964	0.969;0.799	P;B	0.59595	0.86;0.226	T	0.78523	-0.2171	10	0.87932	D	0	.	7.4471	0.27217	0.0:0.8051:0.0:0.1949	.	32;32	B2RCS5;P35609	.;ACTN2_HUMAN	M	32	ENSP00000443495:L32M;ENSP00000355537:L32M	ENSP00000355537:L32M	L	+	1	2	ACTN2	234916690	0.868000	0.29978	0.996000	0.52242	0.932000	0.56968	1.658000	0.37376	1.944000	0.56390	0.462000	0.41574	CTG	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096628.1		+	ENST00000366578.4	Missense_Mutation	SNP	1 : 236850067 - 236850067 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	199	43
FAR2	55711	broad.mit.edu	37	12	29469871	29469871	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29469871C>T	ENST00000536681.3	+	9	1299	c.1053C>T	c.(1051-1053)taC>taT	p.Y351Y	RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000547116.1_Silent_p.Y254Y|FAR2_ENST00000182377.4_Silent_p.Y351Y	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	NA					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CATCACAGTACTGGAATGCGG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4405	2.1+/-5.4	0,1,2202	144	150	148		1053	2.4	1	12		148	0,8600		0,0,4300	no	coding-synonymous	FAR2	NM_018099.3		0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077		351/516	29469871	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	55711	55711	1.2.1.-	Short chain dehydrogenase/reductase superfamily / Atypical members	25531	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 10E, member 2		male sterility domain containing 1	MLSTD1	NA	15220348, 15220349, 19027726	Standard	NM_018099	NM_001271783	NA	Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.1053C>T	12.37:g.29469871C>T		NA	Q9H0D5|Q9NVW8	37	CCDS8717.1																																																																																			FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403479.2		+	ENST00000536681.3	Silent	SNP	12 : 29469871 - 29469871 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1448	288
GDF5OS	554250	broad.mit.edu	37	20	34022620	34022620	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34022620C>T	ENST00000374375.1	+	2	1106	c.664C>T	c.(664-666)Cca>Tca	p.P222S	GDF5_ENST00000374372.1_Intron|GDF5_ENST00000374369.3_Intron					growth differentiation factor 5 opposite strand	NA										cervix(1)|endometrium(4)|lung(4)	9						TGCAACCTCACCAAGGGAGCC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	62	61			NA	NA	20		NA											NA				34022620		2201	4297	6498	SO:0001583	missense			BC085019		20q11.2	2013-03-18			ENSG00000204183	ENSG00000204183	554250	554250			33435	other	unknown					NA		Standard			NA	Approved		uc002xcj.3	Q5U4N7	OTTHUMG00000055985	ENST00000374375.1:c.664C>T	20.37:g.34022620C>T	ENSP00000363495:p.Pro222Ser	NA		37		.	.	.	.	.	.	.	.	.	.	C	3.161	-0.172078	0.06421	.	.	ENSG00000204183	ENST00000374375	.	.	.	4.75	0.259	0.15583	.	.	.	.	.	T	0.36193	0.0958	.	.	.	0.20489	N	0.999895	.	.	.	.	.	.	T	0.36890	-0.9729	5	0.87932	D	0	.	4.0778	0.09912	0.0:0.4404:0.2064:0.3532	.	.	.	.	S	222	.	ENSP00000363495:P222S	P	+	1	0	GDF5OS	33486034	0.000000	0.05858	0.559000	0.28332	0.521000	0.34408	0.055000	0.14229	0.210000	0.20664	0.561000	0.74099	CCA	GDF5OS-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000125987.3		+	ENST00000374375.1	Missense_Mutation	SNP	20 : 34022620 - 34022620 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	599	115
MOGAT3	346606	broad.mit.edu	37	7	100843573	100843573	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100843573G>A	ENST00000223114.4	-	3	396	c.230C>T	c.(229-231)tCg>tTg	p.S77L	MOGAT3_ENST00000379423.3_Missense_Mutation_p.S77L|MOGAT3_ENST00000440203.2_Missense_Mutation_p.S77L	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	77					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					TATCCACTCCGAACGCCTTCC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	166	168			NA	NA	7		NA											NA				100843573		2203	4300	6503	SO:0001583	missense			AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	346606	346606	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184			NA	12618427, 14970677	Standard	NM_178176	XM_005250309	NA	Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.230C>T	7.37:g.100843573G>A	ENSP00000223114:p.Ser77Leu	NA	Q496A6|Q496A7|Q496A8|Q9UDW7	37	CCDS5714.1	.	.	.	.	.	.	.	.	.	.	.	10.63	1.404648	0.25378	.	.	ENSG00000106384	ENST00000223114;ENST00000440203;ENST00000379423	T;T;T	0.15139	2.45;2.45;2.45	4.65	-9.31	0.00646	.	1.276940	0.05401	N	0.540645	T	0.07999	0.0200	L	0.47716	1.5	0.09310	N	1	P;P	0.48162	0.906;0.676	B;B	0.37047	0.24;0.09	T	0.31052	-0.9957	10	0.11182	T	0.66	15.0773	1.1156	0.01714	0.305:0.2917:0.0947:0.3086	.	77;77	Q86VF5-2;Q86VF5	.;MOGT3_HUMAN	L	77	ENSP00000223114:S77L;ENSP00000403756:S77L;ENSP00000368734:S77L	ENSP00000223114:S77L	S	-	2	0	MOGAT3	100630293	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.916000	0.04029	-2.266000	0.00687	-0.189000	0.12847	TCG	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059649.3		-	ENST00000223114.4	Missense_Mutation	SNP	7 : 100843573 - 100843573 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1157	124
CEP152	22995	broad.mit.edu	37	15	49064784	49064784	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49064784C>T	ENST00000380950.2	-	13	1869	c.1682G>A	c.(1681-1683)cGt>cAt	p.R561H	CEP152_ENST00000559398.1_5'UTR|CEP152_ENST00000325747.5_Missense_Mutation_p.R468H|CEP152_ENST00000399334.3_Missense_Mutation_p.R561H	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	561					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CACCAGATGACGCTTCATTGA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	158	163			NA	NA	15		NA											NA				49064784		1913	4135	6048	SO:0001583	missense			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20					22995	22995			29298	protein-coding gene	gene with protein product	asterless	613529	microcephaly, primary autosomal recessive 4	MCPH4	NA	14654843, 21131973	Standard	NM_014985	NM_014985	NA	Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1682G>A	15.37:g.49064784C>T	ENSP00000370337:p.Arg561His	NA	Q17RV1|Q6NTA0	37	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	30	5.052836	0.93793	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	D;D;D	0.84070	-1.8;-1.8;-1.8	5.78	5.78	0.91487	.	0.054450	0.64402	D	0.000001	D	0.90950	0.7155	M	0.76002	2.32	0.45515	D	0.998477	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.988;0.999	D	0.90165	0.4231	10	0.49607	T	0.09	-7.1829	18.1631	0.89716	0.0:1.0:0.0:0.0	.	468;561;561	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	H	561;468;561;561	ENSP00000370337:R561H;ENSP00000321000:R468H;ENSP00000382271:R561H	ENSP00000321000:R468H	R	-	2	0	CEP152	46852076	1.000000	0.71417	0.979000	0.43373	0.954000	0.61252	5.202000	0.65169	2.894000	0.99253	0.591000	0.81541	CGT	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417365.1		-	ENST00000380950.2	Missense_Mutation	SNP	15 : 49064784 - 49064784 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	574	83
FTCD	10841	broad.mit.edu	37	21	47571627	47571627	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47571627C>T	ENST00000397748.1	-	5	524	c.481G>A	c.(481-483)Gac>Aac	p.D161N	FTCD_ENST00000397743.1_Missense_Mutation_p.D161N|FTCD-AS1_ENST00000446649.1_RNA|FTCD_ENST00000355384.2_Missense_Mutation_p.D161N|FTCD_ENST00000291670.5_Missense_Mutation_p.D161N|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397746.3_Missense_Mutation_p.D161N|FTCD_ENST00000359679.2_Missense_Mutation_p.D161N			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	161	Formiminotransferase N-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GGACCAAAGTCGGGCGCCCAG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	55	51			NA	NA	21		NA											NA				47571627		2202	4300	6502	SO:0001583	missense			U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	10841	10841	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	formiminotransferase cyclodeaminase		NA	10029623, 10773664	Standard	NM_006657	NM_006657	NA	Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000397748.1:c.481G>A	21.37:g.47571627C>T	ENSP00000380856:p.Asp161Asn	NA	B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	37		.	.	.	.	.	.	.	.	.	.	C	26.8	4.773417	0.90108	.	.	ENSG00000160282	ENST00000291670;ENST00000397748;ENST00000359679;ENST00000355384;ENST00000397746;ENST00000397743	D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	4.57	4.57	0.56435	Formiminotransferas, N- and C-terminal subdomains (1);Formiminotransferase catalytic domain (1);Formiminotransferase, N-terminal subdomain (2);	0.120225	0.53938	D	0.000044	D	0.94640	0.8272	H	0.95611	3.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72982	0.97;0.979;0.979	D	0.96523	0.9387	10	0.87932	D	0	.	17.362	0.87353	0.0:1.0:0.0:0.0	.	161;161;161	B7WPK3;O95954-2;O95954	.;.;FTCD_HUMAN	N	161	ENSP00000291670:D161N;ENSP00000380856:D161N;ENSP00000352707:D161N;ENSP00000347545:D161N;ENSP00000380854:D161N;ENSP00000380851:D161N	ENSP00000291670:D161N	D	-	1	0	FTCD	46396055	1.000000	0.71417	0.838000	0.33150	0.449000	0.32228	7.593000	0.82686	2.073000	0.62155	0.591000	0.81541	GAC	FTCD-005	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000206963.1		-	ENST00000397748.1	Missense_Mutation	SNP	21 : 47571627 - 47571627 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	60
CIB1	10519	broad.mit.edu	37	15	90774446	90774446	+	Splice_Site	SNP	C	C	T	rs147788051	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90774446C>T	ENST00000328649.6	-	5	508		c.e5-1			NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)	NA					apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TCATCAAAGTCTAGAGAGCAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	76	74			NA	NA	15		NA											NA				90774446		2199	4298	6497	SO:0001630	splice_region_variant			U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043	10519	10519		EF-hand domain containing	16920	protein-coding gene	gene with protein product		602293			NA	9030514, 10826701	Standard		NM_006384	NA	Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808	ENST00000328649.6:c.347-1G>A	15.37:g.90774446C>T		NA	B5BU40|O00693|O00735|Q6IB49|Q96J54|Q99971	37	CCDS10360.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314714	0.81358	.	.	ENSG00000185043	ENST00000328649	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5535	0.87884	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CIB1	88575450	1.000000	0.71417	0.997000	0.53966	0.895000	0.52256	7.487000	0.81328	2.389000	0.81357	0.467000	0.42956	.	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313419.1	Intron	-	ENST00000328649.6	Splice_Site	SNP	15 : 90774446 - 90774446 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	518	64
SFTPA1	653509	broad.mit.edu	37	10	81372118	81372118	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81372118C>T	ENST00000419470.2	+	4	344	c.268C>T	c.(268-270)Ctg>Ttg	p.L90L	SFTPA1_ENST00000372308.3_Silent_p.L75L|SFTPA1_ENST00000372313.5_Silent_p.L16L|SFTPA1_ENST00000398636.3_Silent_p.L75L|SFTPA1_ENST00000428376.2_Silent_p.L75L			Q8IWL2	SFTA1_HUMAN	surfactant protein A1	75	Collagen-like.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			AAATGATGGGCTGCCTGGAGC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	156	153			NA	NA	10		NA											NA				81372118		2203	4296	6499	SO:0001819	synonymous_variant			BC026229	CCDS44444.1, CCDS44445.1, CCDS44444.2	10q22.3	2012-11-02	2008-08-26			ENSG00000122852	653509	653509		Collectins	10798	protein-coding gene	gene with protein product	surfactant, pulmonary-associated protein A1A	178630	surfactant, pulmonary-associated protein A1	SFTP1	NA		Standard	NM_005411	NM_001093770	NA	Approved	SP-A, SP-A1, COLEC4	uc009xry.3	Q8IWL2		ENST00000419470.2:c.268C>T	10.37:g.81372118C>T		NA	A8K3T8|B7ZW50|P07714|Q14DV4|Q5RIR5|Q5RIR7|Q6PIT0|Q8TC19	37	CCDS44444.2																																																																																			SFTPA1-008	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048958.2		+	ENST00000419470.2	Silent	SNP	10 : 81372118 - 81372118 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1057	202
PAFAH2	5051	broad.mit.edu	37	1	26301077	26301077	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26301077C>A	ENST00000374282.3	-	9	1002	c.823G>T	c.(823-825)Gga>Tga	p.G275*	PAFAH2_ENST00000374284.1_Nonsense_Mutation_p.G275*	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	275					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		AACACAGGTCCTCGGGCCTTG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	90	93			NA	NA	1		NA											NA				26301077		2203	4300	6503	SO:0001587	stop_gained			D87845	CCDS270.1	1p34.3	2008-09-19	2002-08-29		ENSG00000158006	ENSG00000158006	5051	5051			8579	protein-coding gene	gene with protein product		602344	platelet-activating factor acetylhydrolase 2 (40kD)		NA	8955149, 9494101	Standard	NM_000437	NM_000437	NA	Approved	HSD-PLA2	uc001bld.4	Q99487	OTTHUMG00000007437	ENST00000374282.3:c.823G>T	1.37:g.26301077C>A	ENSP00000363400:p.Gly275*	NA	D3DPK1|O15458|Q5SY02	37	CCDS270.1	.	.	.	.	.	.	.	.	.	.	C	37	6.498422	0.97616	.	.	ENSG00000158006	ENST00000374282;ENST00000374284	.	.	.	5.72	5.72	0.89469	.	0.212193	0.34652	N	0.003796	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-16.367	8.43	0.32753	0.0:0.7621:0.1569:0.081	.	.	.	.	X	275	.	ENSP00000363400:G275X	G	-	1	0	PAFAH2	26173664	0.969000	0.33509	1.000000	0.80357	0.983000	0.72400	1.340000	0.33896	2.715000	0.92844	0.650000	0.86243	GGA	PAFAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019544.1		-	ENST00000374282.3	Nonsense_Mutation	SNP	1 : 26301077 - 26301077 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	238	18
TSHZ3	57616	broad.mit.edu	37	19	31768179	31768179	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:31768179G>A	ENST00000240587.4	-	2	2847	c.2520C>T	c.(2518-2520)cgC>cgT	p.R840R		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	840					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGGCATTCTCGCGTAGCGGCG	0.522		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	147	139	142		2520	-1.6	1	19		142	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TSHZ3	NM_020856.2		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		840/1082	31768179	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297	57616	57616		Teashirt zinc fingers, Homeoboxes / ZF class, Zinc fingers, C2H2-type	30700	protein-coding gene	gene with protein product	teashirt 3	614119	zinc finger protein 537, teashirt family zinc finger 3	ZNF537	NA		Standard	NM_020856	NM_020856	NA	Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2520C>T	19.37:g.31768179G>A		NA	Q9H0G6|Q9P254	37	CCDS12421.2																																																																																			TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316743.2		-	ENST00000240587.4	Silent	SNP	19 : 31768179 - 31768179 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	773	172
CNGB1	1258	broad.mit.edu	37	16	57998403	57998403	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57998403G>A	ENST00000564448.1	-	3	265	c.205C>T	c.(205-207)Cca>Tca	p.P69S	CNGB1_ENST00000251102.8_Missense_Mutation_p.P69S|CNGB1_ENST00000311183.4_Missense_Mutation_p.P69S			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	69					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TGAGGGCTTGGGTCTGCCACA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(156;1293 1853 16336 28962 38659)							NA				0													49	55	53			NA	NA	16		NA											NA				57998403		2025	4181	6206	SO:0001583	missense			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729	1258	1258		Voltage-gated ion channels / Cyclic nucleotide-regulated channels	2151	protein-coding gene	gene with protein product	glutamic acid-rich protein	600724		CNCG2, CNCG3L	NA	8766832, 7590744, 16382102	Standard	NM_001297	NM_001297	NA	Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000564448.1:c.205C>T	16.37:g.57998403G>A	ENSP00000454633:p.Pro69Ser	NA	O43636|Q13059|Q14029|Q9UMG2	37		.	.	.	.	.	.	.	.	.	.	G	10.83	1.459938	0.26248	.	.	ENSG00000070729	ENST00000251102;ENST00000311183	D;T	0.96427	-4.01;0.97	3.75	2.8	0.32819	.	0.232817	0.22319	N	0.061633	D	0.92993	0.7770	L	0.43923	1.385	0.09310	N	1	P;B	0.36392	0.551;0.028	B;B	0.38842	0.283;0.009	D	0.88097	0.2817	10	0.87932	D	0	.	7.1745	0.25736	0.1202:0.0:0.8798:0.0	.	69;69	Q14028-3;Q14028	.;CNGB1_HUMAN	S	69	ENSP00000251102:P69S;ENSP00000311670:P69S	ENSP00000251102:P69S	P	-	1	0	CNGB1	56555904	0.001000	0.12720	0.003000	0.11579	0.006000	0.05464	0.624000	0.24462	1.157000	0.42530	0.655000	0.94253	CCA	CNGB1-003	NOVEL	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000432160.1		-	ENST00000564448.1	Missense_Mutation	SNP	16 : 57998403 - 57998403 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	57
ZNF512B	57473	broad.mit.edu	37	20	62597563	62597563	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62597563T>G	ENST00000450537.1	-	5	1025	c.965A>C	c.(964-966)aAa>aCa	p.K322T	ZNF512B_ENST00000217130.3_Missense_Mutation_p.K322T|ZNF512B_ENST00000369888.1_Missense_Mutation_p.K322T			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CAGCACCATTTTGCAGGGCGG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	100	104			NA	NA	20		NA											NA				62597563		2203	4300	6503	SO:0001583	missense			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700	57473	57473			29212	protein-coding gene	gene with protein product					NA	10574462	Standard	NM_020713	NM_020713	NA	Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.965A>C	20.37:g.62597563T>G	ENSP00000393795:p.Lys322Thr	NA	Q08AK9|Q9ULM4	37	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.034312	0.75617	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.24908	1.83;1.83;1.83	5.54	5.54	0.83059	.	0.397373	0.24054	N	0.041980	T	0.42539	0.1207	L	0.50333	1.59	0.36736	D	0.881961	D	0.76494	0.999	D	0.66716	0.946	T	0.49418	-0.8942	10	0.52906	T	0.07	-18.8106	12.063	0.53572	0.0:0.0:0.0:1.0	.	322	Q96KM6	Z512B_HUMAN	T	322	ENSP00000358904:K322T;ENSP00000393795:K322T;ENSP00000217130:K322T	ENSP00000217130:K322T	K	-	2	0	ZNF512B	62068007	0.929000	0.31497	0.964000	0.40570	0.984000	0.73092	0.328000	0.19681	2.104000	0.64026	0.477000	0.44152	AAA	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080246.1		-	ENST00000450537.1	Missense_Mutation	SNP	20 : 62597563 - 62597563 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	561	94
TGFB1	7040	broad.mit.edu	37	19	41854288	41854288	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41854288G>A	ENST00000221930.5	-	2	1294	c.428C>T	c.(427-429)gCg>gTg	p.A143V		NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1	143					active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	TTCAGGTACCGCTTCTCGGAG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	125	128			NA	NA	19		NA											NA				41854288		2203	4300	6503	SO:0001583	missense			X02812	CCDS33031.1	19q13.1	2014-01-30	2007-02-16			ENSG00000105329	7040	7040		Endogenous ligands	11766	protein-coding gene	gene with protein product	Camurati-Engelmann disease, prepro-transforming growth factor beta-1	190180		TGFB, DPD1	NA	10631145, 10843814	Standard		NM_000660	NA	Approved	CED, TGFbeta	uc002oqh.2	P01137		ENST00000221930.5:c.428C>T	19.37:g.41854288G>A	ENSP00000221930:p.Ala143Val	NA	A8K792|Q9UCG4	37	CCDS33031.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.608131	0.28623	.	.	ENSG00000105329	ENST00000221930	T	0.72394	-0.65	4.84	4.84	0.62591	Transforming growth factor-beta, N-terminal (1);	0.165870	0.53938	D	0.000058	T	0.50820	0.1638	L	0.41710	1.295	0.39365	D	0.965985	D	0.53151	0.958	B	0.27796	0.083	T	0.56691	-0.7937	10	0.15952	T	0.53	-15.2657	13.313	0.60390	0.0:0.0:1.0:0.0	.	143	P01137	TGFB1_HUMAN	V	143	ENSP00000221930:A143V	ENSP00000221930:A143V	A	-	2	0	TGFB1	46546128	0.929000	0.31497	0.953000	0.39169	0.286000	0.27126	1.795000	0.38784	2.513000	0.84729	0.455000	0.32223	GCG	TGFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463500.2		-	ENST00000221930.5	Missense_Mutation	SNP	19 : 41854288 - 41854288 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	895	185
C9orf131	138724	broad.mit.edu	37	9	35045017	35045017	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35045017C>T	ENST00000312292.5	+	2	2438	c.2391C>T	c.(2389-2391)agC>agT	p.S797S	C9orf131_ENST00000421362.2_Silent_p.S749S|C9orf131_ENST00000354479.5_Silent_p.S724S	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	797										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TGCGGCAGAGCCCTGCCTCCA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	138	135			NA	NA	9		NA											NA				35045017		2203	4300	6503	SO:0001819	synonymous_variant			BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038	138724	138724			31418	protein-coding gene	gene with protein product					NA		Standard	NM_203299	NM_001287391	NA	Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.2391C>T	9.37:g.35045017C>T		NA	Q86XC6|Q9UF74	37	CCDS6572.2																																																																																			C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052283.5		+	ENST00000312292.5	Silent	SNP	9 : 35045017 - 35045017 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1356	222
LHX8	431707	broad.mit.edu	37	1	75622644	75622644	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75622644C>T	ENST00000294638.5	+	9	1541	c.877C>T	c.(877-879)Cca>Tca	p.P293S	LHX8_ENST00000356261.3_Missense_Mutation_p.P283S	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	293						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						ATCCTCCACCCCAGTCACAGC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													283	248	260			NA	NA	1		NA											NA				75622644		2203	4300	6503	SO:0001583	missense			AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624	431707	431707		Homeoboxes / LIM class	28838	protein-coding gene	gene with protein product		604425			NA	9598319	Standard	NM_001001933	NM_001256114	NA	Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.877C>T	1.37:g.75622644C>T	ENSP00000294638:p.Pro293Ser	NA		37	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.799984	0.50208	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.87334	-2.24;-2.22	5.12	5.12	0.69794	.	0.049313	0.85682	D	0.000000	T	0.80914	0.4715	L	0.55481	1.735	0.80722	D	1	B	0.15930	0.015	B	0.09377	0.004	T	0.77688	-0.2494	10	0.52906	T	0.07	.	18.9441	0.92615	0.0:1.0:0.0:0.0	.	293	Q68G74	LHX8_HUMAN	S	293;283	ENSP00000294638:P293S;ENSP00000348597:P283S	ENSP00000294638:P293S	P	+	1	0	LHX8	75395232	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	7.030000	0.76484	2.556000	0.86216	0.455000	0.32223	CCA	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026700.1		+	ENST00000294638.5	Missense_Mutation	SNP	1 : 75622644 - 75622644 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	596	116
LAMA5	3911	broad.mit.edu	37	20	60913186	60913186	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60913186C>A	ENST00000252999.3	-	14	1843	c.1777G>T	c.(1777-1779)Gga>Tga	p.G593*		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	593	Laminin EGF-like 6.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCAAGGTTCCTGCAGGGCTG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	25	25			NA	NA	20		NA											NA				60913186		2188	4291	6479	SO:0001587	stop_gained			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702	3911	3911		Laminins	6485	protein-coding gene	gene with protein product		601033			NA	9271224	Standard	NM_005560	NM_005560	NA	Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.1777G>T	20.37:g.60913186C>A	ENSP00000252999:p.Gly593*	NA	Q8TDF8|Q8WZA7|Q9H1P1	37	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	C	37	6.406667	0.97542	.	.	ENSG00000130702	ENST00000252999	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.7301	0.57193	0.0:0.9138:0.0:0.0862	.	.	.	.	X	593	.	ENSP00000252999:G593X	G	-	1	0	LAMA5	60346581	1.000000	0.71417	0.933000	0.37362	0.047000	0.14425	6.650000	0.74368	2.456000	0.83038	0.585000	0.79938	GGA	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080014.2		-	ENST00000252999.3	Nonsense_Mutation	SNP	20 : 60913186 - 60913186 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	94	21
SMCR8	140775	broad.mit.edu	37	17	18221147	18221147	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18221147G>A	ENST00000406438.3	+	1	2524	c.2044G>A	c.(2044-2046)Gcg>Acg	p.A682T		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	682										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GAGCAGTGTAGCGTCCACCAG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	72	72			NA	NA	17		NA											NA				18221147		2203	4300	6503	SO:0001583	missense			AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994	140775	140775			17921	protein-coding gene	gene with protein product					NA	11997338, 23248642	Standard	NM_144775	NM_144775	NA	Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.2044G>A	17.37:g.18221147G>A	ENSP00000385025:p.Ala682Thr	NA	A5PKZ5|Q3ZCN0|Q6PJL3	37	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	G	18.78	3.697484	0.68386	.	.	ENSG00000176994	ENST00000406438	T	0.44881	0.91	5.87	3.89	0.44902	.	0.323922	0.33127	N	0.005241	T	0.26448	0.0646	N	0.19112	0.55	0.25367	N	0.988735	B	0.15141	0.012	B	0.12156	0.007	T	0.14476	-1.0471	10	0.30854	T	0.27	-7.5156	9.9537	0.41653	0.2648:0.0:0.7352:0.0	.	682	Q8TEV9	SMCR8_HUMAN	T	682	ENSP00000385025:A682T	ENSP00000385025:A682T	A	+	1	0	SMCR8	18161872	0.523000	0.26274	0.686000	0.30086	0.813000	0.45954	1.651000	0.37302	0.942000	0.37525	0.655000	0.94253	GCG	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132065.2		+	ENST00000406438.3	Missense_Mutation	SNP	17 : 18221147 - 18221147 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	61
NPAS3	64067	broad.mit.edu	37	14	34269138	34269138	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:34269138C>T	ENST00000346562.2	+	11	1603	c.1529C>T	c.(1528-1530)gCg>gTg	p.A510V	NPAS3_ENST00000357798.5_Missense_Mutation_p.A529V|NPAS3_ENST00000548645.1_Missense_Mutation_p.A512V|NPAS3_ENST00000551492.1_Missense_Mutation_p.A547V|NPAS3_ENST00000356141.4_Missense_Mutation_p.A542V	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	542					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AACCCCAAGGCGGGCGAGGAC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	60	58			NA	NA	14		NA											NA				34269138		2203	4300	6503	SO:0001583	missense			AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322	64067	64067		Basic helix-loop-helix proteins	19311	protein-coding gene	gene with protein product		609430			NA		Standard		NM_022123	NA	Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000346562.2:c.1529C>T	14.37:g.34269138C>T	ENSP00000319610:p.Ala510Val	NA	Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	37	CCDS9645.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187001	0.57909	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;T;T;T	0.71698	-0.59;3.25;3.25;3.25;3.25;3.11	5.14	3.29	0.37713	.	0.261252	0.37012	N	0.002292	T	0.52075	0.1712	N	0.08118	0	0.80722	D	1	D;P;D;D	0.54601	0.967;0.944;0.967;0.967	P;B;P;P	0.46026	0.501;0.304;0.501;0.501	T	0.52895	-0.8514	10	0.46703	T	0.11	.	9.3778	0.38295	0.0:0.6552:0.2712:0.0736	.	512;542;510;529	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	V	516;547;510;512;542;529	ENSP00000448373:A516V;ENSP00000450392:A547V;ENSP00000319610:A510V;ENSP00000448916:A512V;ENSP00000348460:A542V;ENSP00000350446:A529V	ENSP00000319610:A510V	A	+	2	0	NPAS3	33338889	0.936000	0.31750	0.942000	0.38095	0.980000	0.70556	1.980000	0.40618	0.531000	0.28639	0.555000	0.69702	GCG	NPAS3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276644.1		+	ENST00000346562.2	Missense_Mutation	SNP	14 : 34269138 - 34269138 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	332	67
PLCG2	5336	broad.mit.edu	37	16	81942147	81942147	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81942147C>A	ENST00000359376.3	+	17	1898	c.1684C>A	c.(1684-1686)Ctg>Atg	p.L562M		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	562	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TGGCACCTTCCTGGTTCGGGA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	79	76			NA	NA	16		NA											NA				81942147		2035	4178	6213	SO:0001583	missense				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	5336	5336	3.1.4.11	SH2 domain containing	9066	protein-coding gene	gene with protein product		600220			NA	7835906	Standard		XR_248240	NA	Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1684C>A	16.37:g.81942147C>A	ENSP00000352336:p.Leu562Met	NA	D3DUL3|Q3ZTS2|Q59H45|Q969T5	37	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.245294	0.59103	.	.	ENSG00000197943	ENST00000359376	T	0.60672	0.17	4.72	-2.06	0.07298	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);SH2 motif (4);	0.081372	0.49916	D	0.000134	T	0.69024	0.3065	M	0.83692	2.655	0.54753	D	0.999986	D;P	0.59357	0.985;0.771	P;P	0.58928	0.848;0.714	T	0.71094	-0.4692	10	0.49607	T	0.09	.	11.9618	0.53013	0.0:0.5831:0.0:0.4169	.	429;562	B4E3H3;P16885	.;PLCG2_HUMAN	M	562	ENSP00000352336:L562M	ENSP00000352336:L562M	L	+	1	2	PLCG2	80499648	0.191000	0.23288	0.991000	0.47740	0.938000	0.57974	-0.480000	0.06559	-0.368000	0.08040	-0.251000	0.11542	CTG	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432429.1		+	ENST00000359376.3	Missense_Mutation	SNP	16 : 81942147 - 81942147 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	222	47
EVPL	2125	broad.mit.edu	37	17	74003780	74003780	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74003780C>T	ENST00000301607.3	-	22	5759	c.5506G>A	c.(5506-5508)Gac>Aac	p.D1836N	EVPL_ENST00000586740.1_Missense_Mutation_p.D1858N	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1836	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CACTTGTTGTCTGTGGTTGTG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	145	143			NA	NA	17		NA											NA				74003780		2203	4300	6503	SO:0001583	missense			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880	2125	2125			3503	protein-coding gene	gene with protein product		601590			NA	8938451, 10409435	Standard	NM_001988	NM_001988	NA	Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.5506G>A	17.37:g.74003780C>T	ENSP00000301607:p.Asp1836Asn	NA	A0AUV5	37	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446603	0.63178	.	.	ENSG00000167880	ENST00000301607	T	0.70986	-0.53	5.48	4.51	0.55191	.	0.103125	0.64402	D	0.000005	T	0.78444	0.4284	L	0.50333	1.59	0.38780	D	0.954754	D;B	0.89917	1.0;0.241	D;B	0.75484	0.986;0.178	T	0.78715	-0.2096	10	0.37606	T	0.19	-45.0987	12.4161	0.55494	0.0:0.86:0.0:0.14	.	1858;1836	B7ZLH8;Q92817	.;EVPL_HUMAN	N	1836	ENSP00000301607:D1836N	ENSP00000301607:D1836N	D	-	1	0	EVPL	71515375	0.866000	0.29940	0.651000	0.29564	0.948000	0.59901	1.741000	0.38238	1.306000	0.44926	0.561000	0.74099	GAC	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449483.1		-	ENST00000301607.3	Missense_Mutation	SNP	17 : 74003780 - 74003780 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1285	107
ACSM4	341392	broad.mit.edu	37	12	7459295	7459295	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7459295G>T	ENST00000399422.4	+	2	416	c.368G>T	c.(367-369)aGa>aTa	p.R123I		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	123					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						ATTCTGCCCAGAATCCCTGAG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	82	80			NA	NA	12		NA											NA				7459295		2081	4246	6327	SO:0001583	missense				CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009	341392	341392		Acyl-CoA synthetase family	32016	protein-coding gene	gene with protein product	similar to olfactory specific medium-chain acyl CoA synthetase	614360			NA	17762044	Standard	NM_001080454	NM_001080454	NA	Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.368G>T	12.37:g.7459295G>T	ENSP00000382349:p.Arg123Ile	NA	A8MTI6	37	CCDS44825.1	.	.	.	.	.	.	.	.	.	.	g	20.7	4.032603	0.75504	.	.	ENSG00000215009	ENST00000399422	T	0.12465	2.68	4.89	4.0	0.46444	AMP-dependent synthetase/ligase (1);	0.000000	0.36200	U	0.002740	T	0.41650	0.1168	M	0.90145	3.09	0.53005	D	0.999965	D	0.63880	0.993	D	0.63703	0.917	T	0.53606	-0.8415	10	0.87932	D	0	-12.2778	13.4508	0.61169	0.0:0.159:0.841:0.0	.	123	P0C7M7	ACSM4_HUMAN	I	123	ENSP00000382349:R123I	ENSP00000382349:R123I	R	+	2	0	ACSM4	7350562	0.947000	0.32204	0.931000	0.37212	0.884000	0.51177	5.178000	0.65037	1.216000	0.43427	-0.121000	0.15023	AGA	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337866.2		+	ENST00000399422.4	Missense_Mutation	SNP	12 : 7459295 - 7459295 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	119	23
SCAPER	49855	broad.mit.edu	37	15	76696915	76696915	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:76696915G>A	ENST00000538941.2	-	27	3618	c.2679C>T	c.(2677-2679)gcC>gcT	p.A893A	SCAPER_ENST00000563290.1_Silent_p.A1139A|SCAPER_ENST00000324767.7_Silent_p.A1139A	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	1138						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						AGAGTCCTGCGGCATGCTGCA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													201	184	189			NA	NA	15		NA											NA				76696915		2054	4199	6253	SO:0001819	synonymous_variant			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386	49855	49855		Zinc fingers, C2H2-type	13081	protein-coding gene	gene with protein product		611611	zinc finger protein 291	ZNF291	NA	17698606	Standard	NM_020843	NM_020843	NA	Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000538941.2:c.2679C>T	15.37:g.76696915G>A		NA	Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	37	CCDS53961.1																																																																																			SCAPER-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419697.1		-	ENST00000538941.2	Silent	SNP	15 : 76696915 - 76696915 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	773	121
DOCK4	9732	broad.mit.edu	37	7	111617186	111617186	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111617186C>T	ENST00000428084.1	-	8	974		c.e8+1		DOCK4_ENST00000437633.1_Splice_Site|DOCK4_ENST00000476846.1_Splice_Site			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	NA					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CGTGCAGGTACCTGATTGGCC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	72	74			NA	NA	7		NA											NA				111617186		1937	4131	6068	SO:0001630	splice_region_variant				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512	9732	9732			19192	protein-coding gene	gene with protein product		607679			NA	12432077, 12628187	Standard	NM_014705	XM_006716188	NA	Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000428084.1:c.701+1G>A	7.37:g.111617186C>T		NA	O14584|O94824|Q8NB45	37		.	.	.	.	.	.	.	.	.	.	C	24.5	4.533283	0.85812	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000445943;ENST00000342288;ENST00000544250	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2437	0.93893	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DOCK4	111404422	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.463000	0.80869	2.527000	0.85204	0.563000	0.77884	.	DOCK4-005	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000338943.2	Intron	-	ENST00000428084.1	Splice_Site	SNP	7 : 111617186 - 111617186 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	98	17
CXorf67	340602	broad.mit.edu	37	X	51150481	51150481	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:51150481C>T	ENST00000342995.2	+	1	715	c.613C>T	c.(613-615)Cac>Tac	p.H205Y						chromosome X open reading frame 67	NA										breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						ACTCCTAAGCCACGCATCTGA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	23	28			NA	NA	X		NA											NA				51150481		2199	4299	6498	SO:0001583	missense			BC046248		Xp11.22	2014-04-30			ENSG00000187690	ENSG00000187690	340602	340602			33738	protein-coding gene	gene with protein product					NA	23959973	Standard	NM_203407	XR_113306	NA	Approved			Q86X51	OTTHUMG00000187481	ENST00000342995.2:c.613C>T	X.37:g.51150481C>T	ENSP00000342680:p.His205Tyr	NA		37		.	.	.	.	.	.	.	.	.	.	C	11.81	1.749373	0.30955	.	.	ENSG00000187690	ENST00000342995	T	0.45276	0.9	3.52	3.52	0.40303	.	2.088910	0.02474	N	0.087868	T	0.42177	0.1191	.	.	.	0.09310	N	1	P	0.52316	0.952	P	0.46299	0.511	T	0.33214	-0.9877	9	0.56958	D	0.05	-0.3687	5.9951	0.19489	0.0:0.8591:0.0:0.1409	.	205	Q86X51	CX067_HUMAN	Y	205	ENSP00000342680:H205Y	ENSP00000342680:H205Y	H	+	1	0	CXorf67	51167221	0.001000	0.12720	0.002000	0.10522	0.001000	0.01503	0.947000	0.29082	2.010000	0.58986	0.600000	0.82982	CAC	CXorf67-201	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding			+	ENST00000342995.2	Missense_Mutation	SNP	X : 51150481 - 51150481 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	59	13
SENP7	57337	broad.mit.edu	37	3	101085608	101085608	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101085608T>C	ENST00000394095.2	-	9	1037	c.984A>G	c.(982-984)aaA>aaG	p.K328K	SENP7_ENST00000314261.7_Silent_p.K262K|SENP7_ENST00000394094.2_Silent_p.K263K|SENP7_ENST00000394091.1_Silent_p.K164K|SENP7_ENST00000358203.3_Silent_p.K164K|SENP7_ENST00000348610.3_Silent_p.K295K	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	328					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CATCTTCTTGTTTTTTCTAAA	0.274		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	65	66			NA	NA	3		NA											NA				101085608		2203	4299	6502	SO:0001819	synonymous_variant				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468	57337	57337			30402	protein-coding gene	gene with protein product		612846	SUMO1/sentrin specific protease 7		NA	11214970, 11230166	Standard	NM_020654	NM_001282802	NA	Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.984A>G	3.37:g.101085608T>C		NA	A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	37	CCDS2941.2																																																																																			SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313957.2		-	ENST00000394095.2	Silent	SNP	3 : 101085608 - 101085608 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	255	21
DCN	1634	broad.mit.edu	37	12	91545540	91545540	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91545540G>T	ENST00000052754.5	-	7	1277	c.776C>A	c.(775-777)gCt>gAt	p.A259D	DCN_ENST00000303320.3_Intron|DCN_ENST00000420120.2_Missense_Mutation_p.A150D|DCN_ENST00000393155.1_Missense_Mutation_p.A259D|DCN_ENST00000228329.5_Missense_Mutation_p.A150D|DCN_ENST00000552962.1_Missense_Mutation_p.A259D|DCN_ENST00000425043.1_Missense_Mutation_p.A112D|DCN_ENST00000441303.2_Intron|DCN_ENST00000547568.2_Missense_Mutation_p.A112D|DCN_ENST00000456569.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	259					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						ATTGTCAACAGCAGAGATGCT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	96	104			NA	NA	12		NA											NA				91545540		2203	4300	6503	SO:0001583	missense			AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465	1634	1634		Proteoglycans / Extracellular Matrix : Small leucine-rich repeats	2705	protein-coding gene	gene with protein product	decorin proteoglycan	125255			NA	8432526	Standard	NM_133507	NM_133507	NA	Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.776C>A	12.37:g.91545540G>T	ENSP00000052754:p.Ala259Asp	NA	Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	37	CCDS9039.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.542|0.542	-0.853349|-0.853349	0.02630|0.02630	.|.	.|.	ENSG00000011465|ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000393155;ENST00000425043;ENST00000552962;ENST00000420120;ENST00000547568;ENST00000546391|ENST00000550758	T;T;T;T;T;T;T;T|.	0.56776|.	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44|.	5.58|5.58	0.558|0.558	0.17266|0.17266	.|.	0.841391|.	0.11300|.	N|.	0.578333|.	T|.	0.21718|.	0.0523|.	N|N	0.17082|0.17082	0.46|0.46	0.09310|0.09310	N|N	1|1	B;B;B|.	0.30889|.	0.0;0.0;0.299|.	B;B;B|.	0.23852|.	0.001;0.001;0.049|.	T|.	0.28459|.	-1.0043|.	10|.	0.02654|.	T|.	1|.	.|.	8.2526|8.2526	0.31735|0.31735	0.324:0.1011:0.5748:0.0|0.324:0.1011:0.5748:0.0	.|.	259;112;150|.	P07585;P07585-3;P07585-2|.	PGS2_HUMAN;.;.|.	D|X	259;150;259;112;259;150;112;112|28	ENSP00000052754:A259D;ENSP00000228329:A150D;ENSP00000376862:A259D;ENSP00000401021:A112D;ENSP00000447654:A259D;ENSP00000413723:A150D;ENSP00000447674:A112D;ENSP00000446530:A112D|.	ENSP00000052754:A259D|.	A|C	-|-	2|3	0|2	DCN|DCN	90069671|90069671	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.291000|0.291000	0.27294|0.27294	0.596000|0.596000	0.24044|0.24044	-0.309000|-0.309000	0.08779|0.08779	-1.094000|-1.094000	0.02160|0.02160	GCT|TGC	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406799.3		-	ENST00000052754.5	Missense_Mutation	SNP	12 : 91545540 - 91545540 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	183	12
BUB1	699	broad.mit.edu	37	2	111398943	111398943	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:111398943C>A	ENST00000302759.6	-	22	2842	c.2724G>T	c.(2722-2724)gtG>gtT	p.V908V	BUB1_ENST00000409311.1_Intron|BUB1_ENST00000535254.1_Silent_p.V888V|BUB1_ENST00000478175.1_5'UTR	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	908	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		CACAGTCATGCACTTGCTCAA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	121	122			NA	NA	2		NA											NA				111398943		2203	4300	6503	SO:0001819	synonymous_variant			AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679	699	699			1148	protein-coding gene	gene with protein product		602452	budding uninhibited by benzimidazoles 1 (yeast homolog), budding uninhibited by benzimidazoles 1 homolog (yeast)	BUB1L	NA		Standard	NM_004336	NM_004336	NA	Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.2724G>T	2.37:g.111398943C>A		NA	O43430|O43643|O60626	37	CCDS33273.1																																																																																			BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331925.1		-	ENST00000302759.6	Silent	SNP	2 : 111398943 - 111398943 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	755	132
ZNF536	9745	broad.mit.edu	37	19	30935664	30935664	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30935664C>A	ENST00000355537.3	+	2	1342	c.1195C>A	c.(1195-1197)Ctg>Atg	p.L399M		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			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)					CCTCAACAAGCTGTCGGTGAA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	59	58			NA	NA	19		NA											NA				30935664		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.1195C>A	19.37:g.30935664C>A	ENSP00000347730:p.Leu399Met	NA	A2RU18	37	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.655879	0.29425	.	.	ENSG00000198597	ENST00000355537	T	0.09817	2.94	5.44	5.44	0.79542	Zinc finger, C2H2 (1);	0.000000	0.64402	D	0.000001	T	0.24044	0.0582	L	0.48642	1.525	0.39902	D	0.973911	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.00651	-1.1626	10	0.56958	D	0.05	-19.9523	10.4163	0.44325	0.0:0.8797:0.0:0.1203	.	399;399	A7E228;O15090	.;ZN536_HUMAN	M	399	ENSP00000347730:L399M	ENSP00000347730:L399M	L	+	1	2	ZNF536	35627504	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.184000	0.50926	2.535000	0.85469	0.591000	0.81541	CTG	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459667.2		+	ENST00000355537.3	Missense_Mutation	SNP	19 : 30935664 - 30935664 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	500	95
ZCCHC6	79670	broad.mit.edu	37	9	88958032	88958032	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:88958032G>C	ENST00000375963.3	-	6	1216	c.1044C>G	c.(1042-1044)ttC>ttG	p.F348L	ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375948.1_5'UTR|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.F348L|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.F348L	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	348					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CCGAATTTTTGAAACCCAATC	0.308		NA											G	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	EXOME	NA	NA	3e-04	SNP								NA				0													80	83	82			NA	NA	9		NA											NA				88958032		2203	4300	6503	SO:0001583	missense			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223	79670	79670		Zinc fingers, CCHC domain containing	25817	protein-coding gene	gene with protein product	TUTase7				NA	11214970	Standard	NM_024617	NM_001185059	NA	Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.1044C>G	9.37:g.88958032G>C	ENSP00000365130:p.Phe348Leu	NA	Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	37	CCDS35057.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.31	2.495913	0.44352	.	.	ENSG00000083223	ENST00000375960;ENST00000375961;ENST00000375963	D;D;D	0.81659	-1.52;-1.52;-1.52	5.08	3.25	0.37280	.	0.000000	0.85682	D	0.000000	D	0.83995	0.5375	L	0.49640	1.575	0.41057	D	0.98534	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.85130	0.996;0.996;0.997;0.994	T	0.79553	-0.1756	10	0.19147	T	0.46	-15.6626	10.941	0.47273	0.1505:0.0:0.8495:0.0	.	348;348;348;348	Q5VYS8-5;Q5VYS8-2;Q5VYS8-4;Q5VYS8	.;.;.;TUT7_HUMAN	L	348	ENSP00000365127:F348L;ENSP00000365128:F348L;ENSP00000365130:F348L	ENSP00000365127:F348L	F	-	3	2	ZCCHC6	88147852	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.177000	0.42509	0.720000	0.32209	0.650000	0.86243	TTC	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052918.1		-	ENST00000375963.3	Missense_Mutation	SNP	9 : 88958032 - 88958032 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	411	52
METTL6	131965	broad.mit.edu	37	3	15466479	15466479	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15466479C>A	ENST00000450816.2	-	2	488				METTL6_ENST00000383789.5_Missense_Mutation_p.A115S|METTL6_ENST00000443029.1_Missense_Mutation_p.A115S|METTL6_ENST00000383790.3_Missense_Mutation_p.A115S			Q8TCB7	METL6_HUMAN	methyltransferase like 6	NA							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						TATTCAATGGCTCTTGGAGAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	102	105			NA	NA	3		NA											NA				15466479		1878	4104	5982	SO:0001627	intron_variant			AK057791	CCDS43056.1	3p25.1	2005-11-02			ENSG00000206562	ENSG00000206562	131965	131965			28343	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152396	NM_152396	NA	Approved	MGC24132	uc003bzs.1	Q8TCB7	OTTHUMG00000156431	ENST00000450816.2:c.225+1314G>T	3.37:g.15466479C>A		NA	Q96LU4	37		.	.	.	.	.	.	.	.	.	.	C	20.5	4.004692	0.74932	.	.	ENSG00000206562	ENST00000383790;ENST00000453819;ENST00000383789	T;T;T	0.04758	3.56;3.56;3.56	5.74	5.74	0.90152	Methyltransferase type 12 (1);	0.000000	0.85682	D	0.000000	T	0.29588	0.0738	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.05241	-1.0897	10	0.87932	D	0	-14.8173	19.5124	0.95148	0.0:1.0:0.0:0.0	.	115;115	Q8TCB7-2;Q8TCB7	.;METL6_HUMAN	S	115;22;115	ENSP00000373300:A115S;ENSP00000412006:A22S;ENSP00000373299:A115S	ENSP00000373299:A115S	A	-	1	0	METTL6	15441483	1.000000	0.71417	0.999000	0.59377	0.260000	0.26232	7.723000	0.84788	2.707000	0.92482	0.563000	0.77884	GCC	METTL6-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000346368.1		-	ENST00000450816.2	Intron	SNP	3 : 15466479 - 15466479 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	444	111
SOWAHB	345079	broad.mit.edu	37	4	77817687	77817687	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77817687G>T	ENST00000334306.2	-	1	1315	c.1316C>A	c.(1315-1317)gCt>gAt	p.A439D		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	439											NA						AAGGCCCCCAGCTGGATTCCT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	58	54			NA	NA	4		NA											NA				77817687		2203	4300	6503	SO:0001583	missense				CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212	345079	345079		Ankyrin repeat domain containing	32958	protein-coding gene	gene with protein product			ankyrin repeat domain 56	ANKRD56	NA	22234889	Standard	NM_001029870	NM_001029870	NA	Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.1316C>A	4.37:g.77817687G>T	ENSP00000334879:p.Ala439Asp	NA	B2RP29	37	CCDS34017.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872085	0.51695	.	.	ENSG00000186212	ENST00000334306	T	0.07114	3.22	5.05	2.77	0.32553	.	0.491680	0.17923	U	0.157429	T	0.05868	0.0153	L	0.27053	0.805	0.09310	N	1	P	0.44877	0.845	B	0.43478	0.421	T	0.27872	-1.0061	10	0.13470	T	0.59	-4.2046	6.0404	0.19730	0.1359:0.283:0.5811:0.0	.	439	A6NEL2	ANR56_HUMAN	D	439	ENSP00000334879:A439D	ENSP00000334879:A439D	A	-	2	0	ANKRD56	78036711	0.000000	0.05858	0.032000	0.17829	0.001000	0.01503	0.033000	0.13754	0.991000	0.38814	0.655000	0.94253	GCT	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362762.1		-	ENST00000334306.2	Missense_Mutation	SNP	4 : 77817687 - 77817687 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	706	130
ROBO2	6092	broad.mit.edu	37	3	75986709	75986709	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:75986709T>C	ENST00000487694.3	+	2	344	c.65T>C	c.(64-66)aTg>aCg	p.M22T		NM_001128929.2	NP_001122401.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	0					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CTGTTGATGATGACTGTGGTG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	64	66			NA	NA	3		NA											NA				75986709		876	1991	2867	SO:0001583	missense			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008	6092	6092		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	10250	protein-coding gene	gene with protein product		602431	roundabout (axon guidance receptor, Drosophila) homolog 2		NA	9458045	Standard	XM_031246	NM_002942	NA	Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000487694.3:c.65T>C	3.37:g.75986709T>C	ENSP00000417335:p.Met22Thr	NA	O43608|Q19AB4	37	CCDS54609.1	.	.	.	.	.	.	.	.	.	.	T	0.582	-0.836472	0.02692	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019	T	0.60797	0.16	4.5	3.33	0.38152	.	.	.	.	.	T	0.41351	0.1155	N	0.08118	0	0.19945	N	0.999947	.	.	.	.	.	.	T	0.53725	-0.8398	6	0.87932	D	0	.	9.5773	0.39465	0.0:0.0946:0.0:0.9054	.	.	.	.	T	22	ENSP00000417335:M22T	ENSP00000342509:M22T	M	+	2	0	ROBO2	76069399	0.017000	0.18338	0.000000	0.03702	0.000000	0.00434	1.998000	0.40796	0.306000	0.22856	-1.525000	0.00928	ATG	ROBO2-013	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000467720.1		+	ENST00000487694.3	Missense_Mutation	SNP	3 : 75986709 - 75986709 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	140	13
ATP1A2	477	broad.mit.edu	37	1	160094128	160094128	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160094128G>A	ENST00000361216.3	+	6	627	c.538G>A	c.(538-540)Gca>Aca	p.A180T	ATP1A2_ENST00000392233.3_Missense_Mutation_p.A180T	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	180					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCAGATCAACGCAGAGGAAGT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	103	112			NA	NA	1		NA											NA				160094128		2203	4300	6503	SO:0001583	missense			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	477	477	3.6.3.9	ATPases / P-type	800	protein-coding gene	gene with protein product	sodium/potassium-transporting ATPase subunit alpha-2, sodium pump subunit alpha-2, sodium-potassium ATPase catalytic subunit alpha-2	182340	migraine, hemiplegic 2, ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide	MHP2	NA	9403481	Standard	NM_000702	NM_000702	NA	Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.538G>A	1.37:g.160094128G>A	ENSP00000354490:p.Ala180Thr	NA	D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	37	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	32	5.117388	0.94385	.	.	ENSG00000018625	ENST00000538123;ENST00000361216;ENST00000392233	D;D	0.91894	-2.93;-2.93	5.11	5.11	0.69529	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.88724	0.6514	M	0.62016	1.91	0.80722	D	1	B;B	0.34372	0.451;0.346	B;B	0.36666	0.147;0.23	D	0.88958	0.3391	10	0.44086	T	0.13	.	17.3108	0.87210	0.0:0.0:1.0:0.0	.	25;180	B4DHD7;P50993	.;AT1A2_HUMAN	T	25;180;180	ENSP00000354490:A180T;ENSP00000376066:A180T	ENSP00000354490:A180T	A	+	1	0	ATP1A2	158360752	1.000000	0.71417	0.968000	0.41197	0.940000	0.58332	9.869000	0.99810	2.388000	0.81334	0.655000	0.94253	GCA	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060642.2		+	ENST00000361216.3	Missense_Mutation	SNP	1 : 160094128 - 160094128 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	119	29
IL7	3574	broad.mit.edu	37	8	79652256	79652256	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:79652256T>C	ENST00000263851.4	-	3	809	c.209A>G	c.(208-210)cAt>cGt	p.H70R	IL7_ENST00000520269.1_Missense_Mutation_p.H70R|IL7_ENST00000541183.1_Missense_Mutation_p.H19R|IL7_ENST00000519833.1_5'UTR	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN	interleukin 7	70					bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding			endometrium(2)|large_intestine(2)|lung(1)	5						ATCACAGATATGTCTTTTAAA	0.274		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	45	44			NA	NA	8		NA											NA				79652256		2194	4275	6469	SO:0001583	missense			J04156	CCDS6224.1, CCDS56541.1, CCDS75755.1, CCDS75756.1	8q12-q13	2008-07-03				ENSG00000104432	3574	3574		Interleukins and interleukin receptors	6023	protein-coding gene	gene with protein product		146660			NA		Standard		NM_000880	NA	Approved	IL-7	uc003ybg.3	P13232		ENST00000263851.4:c.209A>G	8.37:g.79652256T>C	ENSP00000263851:p.His70Arg	NA	A0N0L3	37	CCDS6224.1	.	.	.	.	.	.	.	.	.	.	T	15.89	2.965768	0.53507	.	.	ENSG00000104432	ENST00000263851;ENST00000520269;ENST00000379114;ENST00000541183	T;T;T	0.47177	0.85;0.85;0.85	5.02	5.02	0.67125	.	0.381500	0.22540	N	0.058737	T	0.51449	0.1675	L	0.34521	1.04	0.80722	D	1	D;D	0.69078	0.984;0.997	P;P	0.61070	0.883;0.865	T	0.45264	-0.9273	9	.	.	.	.	11.3049	0.49329	0.0:0.0:0.0:1.0	.	70;70	P13232;Q5FBY9	IL7_HUMAN;.	R	70;70;67;19	ENSP00000263851:H70R;ENSP00000427750:H70R;ENSP00000438922:H19R	.	H	-	2	0	IL7	79814811	1.000000	0.71417	0.989000	0.46669	0.580000	0.36256	3.252000	0.51461	2.234000	0.73211	0.460000	0.39030	CAT	IL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379429.1		-	ENST00000263851.4	Missense_Mutation	SNP	8 : 79652256 - 79652256 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	131	25
SLC25A2	83884	broad.mit.edu	37	5	140683087	140683087	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140683087C>T	ENST00000239451.4	-	1	525	c.346G>A	c.(346-348)Gcc>Acc	p.A116T		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	116					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	AATGCAGAGGCGAAGGACCCC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	93	91			NA	NA	5		NA											NA				140683087		2203	4300	6503	SO:0001583	missense			AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329	83884	83884		Solute carriers	22921	protein-coding gene	gene with protein product		608157			NA	11004451	Standard	NM_031947	NM_031947	NA	Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.346G>A	5.37:g.140683087C>T	ENSP00000239451:p.Ala116Thr	NA	Q496C1|Q6XUI0|Q8NFZ2	37	CCDS4258.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308083	0.60305	.	.	ENSG00000120329	ENST00000239451	D	0.87650	-2.28	3.78	3.78	0.43462	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.93194	0.7832	M	0.86953	2.85	0.80722	D	1	D	0.67145	0.996	D	0.67231	0.95	D	0.93631	0.6956	10	0.54805	T	0.06	-21.1689	13.9383	0.64039	0.0:1.0:0.0:0.0	.	116	Q9BXI2	ORNT2_HUMAN	T	116	ENSP00000239451:A116T	ENSP00000239451:A116T	A	-	1	0	SLC25A2	140663271	1.000000	0.71417	0.535000	0.28026	0.009000	0.06853	6.932000	0.75869	2.424000	0.82194	0.650000	0.86243	GCC	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251799.2		-	ENST00000239451.4	Missense_Mutation	SNP	5 : 140683087 - 140683087 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	642	44
HOXA3	3200	broad.mit.edu	37	7	27150088	27150088	+	Missense_Mutation	SNP	C	C	T	rs78276647	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27150088C>T	ENST00000396352.4	-	2	371	c.172G>A	c.(172-174)Gcc>Acc	p.A58T	HOXA3_ENST00000317201.2_Missense_Mutation_p.A58T|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	58					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						TGGCCCCCGGCGCTGGAGGGA	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(136;1368 1743 5685 7935 50360)							NA				0													9	9	9			NA	NA	7		NA											NA				27150088		2125	4180	6305	SO:0001583	missense				CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997	3200	3200		Homeoboxes / ANTP class : HOXL subclass	5104	protein-coding gene	gene with protein product		142954	homeo box A3	HOX1E, HOX1	NA	1973146, 1358459	Standard		XM_005249730	NA	Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.172G>A	7.37:g.27150088C>T	ENSP00000379640:p.Ala58Thr	NA	A4D181	37	CCDS5404.1	.	.	.	.	.	.	.	.	.	.	C	4.232	0.041946	0.08196	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000522788	T;T;T	0.47177	3.27;3.27;0.85	5.63	2.72	0.32119	.	0.218430	0.46758	N	0.000275	T	0.21347	0.0514	N	0.05351	-0.065	0.43032	D	0.9946	B	0.06786	0.001	B	0.04013	0.001	T	0.07654	-1.0761	10	0.08179	T	0.78	.	8.3605	0.32357	0.2259:0.6367:0.0:0.1374	.	58	O43365	HXA3_HUMAN	T	58	ENSP00000379640:A58T;ENSP00000324884:A58T;ENSP00000429426:A58T	ENSP00000324884:A58T	A	-	1	0	HOXA3	27116613	0.916000	0.31088	0.710000	0.30468	0.150000	0.21749	0.280000	0.18790	1.396000	0.46663	0.561000	0.74099	GCC	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358708.2		-	ENST00000396352.4	Missense_Mutation	SNP	7 : 27150088 - 27150088 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	104	22
AKAP6	9472	broad.mit.edu	37	14	33016050	33016050	+	Missense_Mutation	SNP	G	G	A	rs139751571	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:33016050G>A	ENST00000280979.4	+	4	2361	c.2191G>A	c.(2191-2193)Gct>Act	p.A731T	AKAP6_ENST00000557354.1_Missense_Mutation_p.A731T|AKAP6_ENST00000557272.1_Missense_Mutation_p.A731T	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	731					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	p.A731T(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TATGCCTCTCGCTGGCATGAA	0.448		NA											G	2	9e-04	0.0041	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	9e-04	1	LOWCOV,EXOME	NA	NA	0.0011	SNP	Melanoma(49;821 1200 7288 13647 42351)							NA				1	Substitution - Missense(1)	large_intestine(1)						G	THR/ALA	26,4380	34.3+/-65.2	0,26,2177	64	62	62		2191	2.5	1	14	dbSNP_134	62	0,8600		0,0,4300	yes	missense	AKAP6	NM_004274.4	58	0,26,6477	AA,AG,GG	NA	0.0,0.5901,0.1999	benign	731/2320	33016050	26,12980	2203	4300	6503	SO:0001583	missense			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320	9472	9472		A-kinase anchor proteins	376	protein-coding gene	gene with protein product	protein kinase A anchoring protein 6	604691			NA	7721854, 9205841	Standard	NM_004274	NM_004274	NA	Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.2191G>A	14.37:g.33016050G>A	ENSP00000280979:p.Ala731Thr	NA	A7E2D4|O15028	37	CCDS9644.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	6.915	0.538489	0.13250	0.005901	0.0	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272	T;T;T	0.30448	1.53;1.53;1.53	6.17	2.52	0.30459	.	0.572707	0.18217	N	0.148006	T	0.10423	0.0255	N	0.08118	0	0.19775	N	0.99995	B;B	0.12630	0.001;0.006	B;B	0.08055	0.001;0.003	T	0.17410	-1.0370	10	0.46703	T	0.11	-1.973	7.7743	0.29029	0.2421:0.0:0.1282:0.6297	.	731;731	A7E242;Q13023	.;AKAP6_HUMAN	T	731	ENSP00000280979:A731T;ENSP00000450531:A731T;ENSP00000451247:A731T	ENSP00000280979:A731T	A	+	1	0	AKAP6	32085801	0.997000	0.39634	0.999000	0.59377	0.103000	0.19146	1.978000	0.40598	0.193000	0.20303	-1.006000	0.02489	GCT	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276617.2		+	ENST00000280979.4	Missense_Mutation	SNP	14 : 33016050 - 33016050 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	369	32
KCNH8	131096	broad.mit.edu	37	3	19389273	19389273	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:19389273G>A	ENST00000328405.2	+	5	893	c.627G>A	c.(625-627)aaG>aaA	p.K209K	KCNH8_ENST00000475063.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	209						integral to membrane	two-component sensor activity	p.K209K(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						ATGCAAAAAAGTCCAAATTCA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(124;1625 1765 8018 24930 42026)							NA				1	Substitution - coding silent(1)	large_intestine(1)											147	136	140			NA	NA	3		NA											NA				19389273		2203	4299	6502	SO:0001819	synonymous_variant			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960	131096	131096		Potassium channels, Voltage-gated ion channels / Potassium channels	18864	protein-coding gene	gene with protein product		608260			NA	16382104	Standard	NM_144633	NM_144633	NA	Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.627G>A	3.37:g.19389273G>A		NA	Q59GQ6	37	CCDS2632.1																																																																																			KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252139.2		+	ENST00000328405.2	Silent	SNP	3 : 19389273 - 19389273 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	671	143
PCM1	5108	broad.mit.edu	37	8	17872228	17872228	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17872228G>A	ENST00000519253.1	+	36	5947	c.5696G>A	c.(5695-5697)cGt>cAt	p.R1899H	PCM1_ENST00000524226.1_Intron|PCM1_ENST00000325083.8_Missense_Mutation_p.R1907H|PCM1_ENST00000327578.8_Missense_Mutation_p.R606H			Q15154	PCM1_HUMAN	pericentriolar material 1	1907					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TTGCCGTTACGTTTACCTGAA	0.438		NA	T	RET, JAK2	papillary thyroid, CML, MPD									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		E, L	0													92	86	88			NA	NA	8		NA											NA				17872228		1885	4111	5996	SO:0001583	missense				CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674	5108	5108			8727	protein-coding gene	gene with protein product		600299			NA	8120099, 15659651	Standard	NM_006197	NM_006197	NA	Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.5696G>A	8.37:g.17872228G>A	ENSP00000431099:p.Arg1899His	NA	Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.46|15.46	2.840949|2.840949	0.51057|0.51057	.|.	.|.	ENSG00000078674|ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000327578|ENST00000522275	T;T;T|.	0.17370|.	3.66;3.66;2.28|.	4.65|4.65	3.78|3.78	0.43462|0.43462	.|.	0.385114|.	0.28946|.	N|.	0.013636|.	T|T	0.19287|0.19287	0.0463|0.0463	N|N	0.03608|0.03608	-0.345|-0.345	0.20074|0.20074	N|N	0.999939|0.999939	P;P;B;P;P;P|.	0.45126|.	0.851;0.851;0.226;0.851;0.799;0.851|.	B;B;B;B;B;B|.	0.40534|.	0.332;0.332;0.004;0.332;0.121;0.332|.	T|T	0.15636|0.15636	-1.0430|-1.0430	10|5	0.72032|.	D|.	0.01|.	-6.3064|-6.3064	14.2484|14.2484	0.66004|0.66004	0.0:0.849:0.151:0.0|0.0:0.849:0.151:0.0	.|.	1899;1907;706;1899;1852;1907|.	B9EIS5;D3DSQ0;B4DJ00;E7ETA6;Q15154-2;Q15154|.	.;.;.;.;.;PCM1_HUMAN|.	H|I	1907;1899;606|647	ENSP00000327077:R1907H;ENSP00000431099:R1899H;ENSP00000328332:R606H|.	ENSP00000327077:R1907H|.	R|V	+|+	2|1	0|0	PCM1|PCM1	17916508|17916508	0.996000|0.996000	0.38824|0.38824	0.965000|0.965000	0.40720|0.40720	0.839000|0.839000	0.47603|0.47603	1.811000|1.811000	0.38942|0.38942	1.576000|1.576000	0.49790|0.49790	-0.234000|-0.234000	0.12200|0.12200	CGT|GTT	PCM1-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000374800.1		+	ENST00000519253.1	Missense_Mutation	SNP	8 : 17872228 - 17872228 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	157	11
ATXN1	6310	broad.mit.edu	37	6	16326701	16326701	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:16326701G>A	ENST00000244769.4	-	8	2777	c.1841C>T	c.(1840-1842)aCc>aTc	p.T614I	ATXN1_ENST00000436367.1_Missense_Mutation_p.T614I	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	614	AXH.|Interaction with USP7.|RNA-binding.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CCTCTCTACGGTGCTGGAGTC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	88	88			NA	NA	6		NA											NA				16326701		2203	4300	6503	SO:0001583	missense			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788	6310	6310		Ataxins	10548	protein-coding gene	gene with protein product		601556	spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)	SCA1	NA	1582256	Standard	NM_000332	NM_000332	NA	Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.1841C>T	6.37:g.16326701G>A	ENSP00000244769:p.Thr614Ile	NA	Q17S02|Q9UJG2|Q9Y4J1	37	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889332	0.72524	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.80653	-1.4;-1.4	4.45	4.45	0.53987	Ataxin, AXH domain (1);Ataxin-1/HBP1 module (AXH) (3);	0.048732	0.85682	D	0.000000	D	0.86723	0.6001	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.88471	0.3062	10	0.87932	D	0	-17.0797	17.2893	0.87150	0.0:0.0:1.0:0.0	.	614	P54253	ATX1_HUMAN	I	614	ENSP00000244769:T614I;ENSP00000416360:T614I	ENSP00000244769:T614I	T	-	2	0	ATXN1	16434680	1.000000	0.71417	0.931000	0.37212	0.741000	0.42261	9.125000	0.94402	2.307000	0.77673	0.561000	0.74099	ACC	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039943.3		-	ENST00000244769.4	Missense_Mutation	SNP	6 : 16326701 - 16326701 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	581	107
CDK8	1024	broad.mit.edu	37	13	26923286	26923286	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:26923286G>A	ENST00000381527.3	+	3	785	c.282G>A	c.(280-282)tgG>tgA	p.W94*	CDK8_ENST00000536792.1_Nonsense_Mutation_p.W94*	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	94	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		GGAAGGTGTGGCTTCTGTTTG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													221	198	205			NA	NA	13		NA											NA				26923286		2203	4300	6503	SO:0001587	stop_gained			X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964	1024	1024		Cyclin-dependent kinases	1779	protein-coding gene	gene with protein product		603184			NA	7568034	Standard		NM_001260	NA	Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.282G>A	13.37:g.26923286G>A	ENSP00000370938:p.Trp94*	NA	Q5VUF3|Q6ISB5	37	CCDS9317.1	.	.	.	.	.	.	.	.	.	.	G	35	5.441608	0.96187	.	.	ENSG00000132964	ENST00000381527;ENST00000536792	.	.	.	4.97	4.97	0.65823	.	0.059337	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-5.1766	18.2519	0.90006	0.0:0.0:1.0:0.0	.	.	.	.	X	94	.	ENSP00000370938:W94X	W	+	3	0	CDK8	25821286	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.476000	0.97823	2.304000	0.77564	0.467000	0.42956	TGG	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044250.1		+	ENST00000381527.3	Nonsense_Mutation	SNP	13 : 26923286 - 26923286 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	707	133
NPAP1	23742	broad.mit.edu	37	15	24922657	24922657	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:24922657T>C	ENST00000329468.2	+	1	2117	c.1643T>C	c.(1642-1644)aTg>aCg	p.M548T		NM_018958.2	NP_061831.2			nuclear pore associated protein 1	NA											NA						AGCAAGCCTATGAATTCCACG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													177	168	171			NA	NA	15		NA											NA				24922657		2203	4300	6503	SO:0001583	missense			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823	23742	23742			1190	protein-coding gene	gene with protein product		610922	chromosome 15 open reading frame 2	C15orf2	NA	10783265, 22694955	Standard	NM_018958	NM_018958	NA	Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1643T>C	15.37:g.24922657T>C	ENSP00000333735:p.Met548Thr	NA		37	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	4.409	0.075619	0.08485	.	.	ENSG00000185823	ENST00000329468	T	0.05319	3.46	1.82	-3.02	0.05446	.	2.363510	0.01941	N	0.041865	T	0.03520	0.0101	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.37009	-0.9724	10	0.13108	T	0.6	.	3.6819	0.08313	0.0:0.1696:0.4764:0.354	.	548	Q9NZP6	CO002_HUMAN	T	548	ENSP00000333735:M548T	ENSP00000333735:M548T	M	+	2	0	C15orf2	22473750	0.000000	0.05858	0.000000	0.03702	0.206000	0.24218	-0.924000	0.03996	-0.792000	0.04480	0.172000	0.16884	ATG	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251253.1		+	ENST00000329468.2	Missense_Mutation	SNP	15 : 24922657 - 24922657 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1082	202
ZNF28	7576	broad.mit.edu	37	19	53304225	53304225	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53304225C>T	ENST00000438150.2	-	2	1607	c.714G>A	c.(712-714)gcG>gcA	p.A238A	ZNF28_ENST00000414252.2_Silent_p.A238A|ZNF28_ENST00000360272.4_Silent_p.A238A|ZNF28_ENST00000457749.2_Silent_p.A291A			P17035	ZNF28_HUMAN	zinc finger protein 28	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		CAGTATGAAGCGCCTTGTGAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	142	145			NA	NA	19		NA											NA				53304225		2203	4300	6503	SO:0001819	synonymous_variant			X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538	7576	7576		Zinc fingers, C2H2-type, -	13073	protein-coding gene	gene with protein product			zinc finger protein 28 (KOX 24)		NA		Standard	NM_006969	NR_036599	NA	Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000438150.2:c.714G>A	19.37:g.53304225C>T		NA	A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	37																																																																																				ZNF28-004	PUTATIVE	alternative_5_UTR|basic	protein_coding	NA	protein_coding	OTTHUMT00000396147.2		-	ENST00000438150.2	Silent	SNP	19 : 53304225 - 53304225 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	677	130
MLLT4	4301	broad.mit.edu	37	6	168312006	168312006	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168312006G>T	ENST00000400822.3	+	15	1871	c.1871G>T	c.(1870-1872)aGc>aTc	p.S624I	MLLT4_ENST00000392108.3_Missense_Mutation_p.S625I|MLLT4_ENST00000344191.4_Missense_Mutation_p.S625I|MLLT4_ENST00000392112.1_Missense_Mutation_p.S609I|MLLT4_ENST00000351017.4_Missense_Mutation_p.S625I|MLLT4_ENST00000366806.2_Missense_Mutation_p.S625I|MLLT4_ENST00000447894.2_Missense_Mutation_p.S625I			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	625					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TATACTAATAGCTCTACAGTC	0.348		NA	T	MLL	AL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		6	6q27	4301	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)		L	0													93	97	96			NA	NA	6		NA											NA				168312006		2203	4300	6503	SO:0001583	missense			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396	4301	4301			7137	protein-coding gene	gene with protein product		159559	myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4		NA	8242616	Standard	NM_005936	NM_001040000	NA	Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000400822.3:c.1871G>T	6.37:g.168312006G>T	ENSP00000383623:p.Ser624Ile	NA	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.3|25.3	4.626529|4.626529	0.87560|0.87560	.|.	.|.	ENSG00000130396|ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894|ENST00000423229	T;T;T;T;T;T;T|.	0.05025|.	3.71;3.62;3.71;3.72;3.51;3.62;3.62|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.72301|.	0.3443|.	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	D;D;P;D|.	0.89917|.	0.968;1.0;0.78;0.958|.	P;D;P;P|.	0.91635|.	0.661;0.999;0.673;0.772|.	T|.	0.71718|.	-0.4508|.	10|.	0.56958|.	D|.	0.05|.	-0.6453|-0.6453	19.2936|19.2936	0.94112|0.94112	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	323;624;625;609|.	Q96C95;P55196-5;P55196-6;P55196-2|.	.;.;.;.|.	I|Y	625;625;625;625;609;625;624;625|323	ENSP00000341118:S625I;ENSP00000252692:S625I;ENSP00000375956:S625I;ENSP00000355771:S625I;ENSP00000375960:S609I;ENSP00000383623:S624I;ENSP00000404595:S625I|.	ENSP00000345834:S625I|.	S|X	+|+	2|3	0|2	MLLT4|MLLT4	168054855|168054855	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.983000|0.983000	0.72400|0.72400	9.273000|9.273000	0.95719|0.95719	2.554000|2.554000	0.86153|0.86153	0.467000|0.467000	0.42956|0.42956	AGC|TAG	MLLT4-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000043150.2		+	ENST00000400822.3	Missense_Mutation	SNP	6 : 168312006 - 168312006 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	576	85
CHRD	8646	broad.mit.edu	37	3	184102964	184102964	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184102964C>T	ENST00000450923.1	+	14	1868	c.1756C>T	c.(1756-1758)Ctc>Ttc	p.L586F	CHRD_ENST00000204604.1_Missense_Mutation_p.L586F|CHRD_ENST00000348986.3_Missense_Mutation_p.L546F|CHRD_ENST00000545352.1_Missense_Mutation_p.L216F|EIF2B5_ENST00000444495.1_Intron			Q9H2X0	CHRD_HUMAN	chordin	586	CHRD 4.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CACTGCCCACCTCCTTGGGCC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	86	85			NA	NA	3		NA											NA				184102964		2203	4300	6503	SO:0001583	missense			AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539	8646	8646			1949	protein-coding gene	gene with protein product		603475			NA	9782094, 11472837	Standard	NM_003741	NM_003741	NA	Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000450923.1:c.1756C>T	3.37:g.184102964C>T	ENSP00000408972:p.Leu586Phe	NA	O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	37		.	.	.	.	.	.	.	.	.	.	C	21.7	4.191675	0.78902	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352;ENST00000342610	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.29	5.29	0.74685	CHRD (3);	0.000000	0.85682	D	0.000000	T	0.56702	0.2003	L	0.39692	1.235	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.955;1.0	D;D;P;D	0.91635	0.999;0.991;0.817;0.995	T	0.55198	-0.8178	10	0.51188	T	0.08	-22.5074	16.8087	0.85712	0.0:1.0:0.0:0.0	.	216;546;586;586	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	F	586;586;546;216;299	ENSP00000204604:L586F;ENSP00000408972:L586F;ENSP00000334036:L546F;ENSP00000442948:L216F	ENSP00000204604:L586F	L	+	1	0	CHRD	185585658	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.067000	0.64357	2.662000	0.90505	0.655000	0.94253	CTC	CHRD-014	NOVEL	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000345497.1		+	ENST00000450923.1	Missense_Mutation	SNP	3 : 184102964 - 184102964 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	874	167
ECT2L	345930	broad.mit.edu	37	6	139186158	139186158	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139186158A>C	ENST00000423192.1	+	11	1478	c.1317A>C	c.(1315-1317)caA>caC	p.Q439H	ECT2L_ENST00000541398.1_Missense_Mutation_p.Q370H|ECT2L_ENST00000495970.1_3'UTR|ECT2L_ENST00000367682.2_Missense_Mutation_p.Q439H			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	439					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TGGGATCCCAATGGGGAAAGG	0.428		NA	N, Splice, Mis		ETP ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		6	6q24.1	345930	epithelial cell transforming sequence 2 oncogene-like		L	0													69	67	68			NA	NA	6		NA											NA				139186158		1860	4095	5955	SO:0001583	missense				CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734	345930	345930		Rho guanine nucleotide exchange factors, F-boxes /  other	21118	protein-coding gene	gene with protein product	lung specific F-box and DH domain containing protein, F-box protein 49		chromosome 6 open reading frame 91, epithelial cell transforming sequence 2 oncogene-like	C6orf91	NA		Standard	NM_001077706	NM_001077706	NA	Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.1317A>C	6.37:g.139186158A>C	ENSP00000387388:p.Gln439His	NA	B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	37	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	A	4.105	0.017592	0.07959	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.75154	0.2;0.2;-0.91	5.08	-5.87	0.02297	.	2.073900	0.05119	U	0.490444	T	0.26702	0.0653	N	0.16478	0.41	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.05370	-1.0889	10	0.30854	T	0.27	8.4498	1.4937	0.02461	0.4252:0.1031:0.2543:0.2174	.	370;439	F5H7S9;Q008S8	.;ECT2L_HUMAN	H	439;439;370	ENSP00000387388:Q439H;ENSP00000356655:Q439H;ENSP00000442307:Q370H	ENSP00000356655:Q439H	Q	+	3	2	ECT2L	139227851	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.178000	0.09782	-1.061000	0.03185	-0.462000	0.05337	CAA	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042441.3		+	ENST00000423192.1	Missense_Mutation	SNP	6 : 139186158 - 139186158 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	386	77
SUCLG1	8802	broad.mit.edu	37	2	84668499	84668499	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:84668499C>A	ENST00000393868.2	-	4	613	c.403G>T	c.(403-405)Gca>Tca	p.A135S		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	135					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	GGAATTTCTGCCTCAATAGCT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(48;203 1101 37206 40305 50790)							NA				0													91	87	88			NA	NA	2		NA											NA				84668499		2203	4300	6503	SO:0001583	missense			Z68204	CCDS1967.2	2p11.3	2008-02-05	2008-01-08		ENSG00000163541	ENSG00000163541	8802	8802	6.2.1.4		11449	protein-coding gene	gene with protein product		611224	succinate-CoA ligase, GDP-forming, alpha subunit		NA	9128182	Standard	NM_003849	NM_003849	NA	Approved		uc002son.3	P53597	OTTHUMG00000130023	ENST00000393868.2:c.403G>T	2.37:g.84668499C>A	ENSP00000377446:p.Ala135Ser	NA	Q9BWB0|Q9UNP6	37	CCDS1967.2	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633051	0.87660	.	.	ENSG00000163541	ENST00000393868	D	0.85484	-1.99	5.59	5.59	0.84812	CoA-binding (2);NAD(P)-binding domain (1);	0.048024	0.85682	D	0.000000	D	0.92909	0.7744	M	0.82823	2.61	0.80722	D	1	D;D	0.65815	0.995;0.965	D;D	0.87578	0.998;0.955	D	0.93114	0.6519	10	0.62326	D	0.03	4.4456	17.4491	0.87587	0.0:1.0:0.0:0.0	.	135;135	B7Z438;P53597	.;SUCA_HUMAN	S	135	ENSP00000377446:A135S	ENSP00000377446:A135S	A	-	1	0	SUCLG1	84522010	1.000000	0.71417	0.982000	0.44146	0.434000	0.31775	7.769000	0.85360	2.793000	0.96121	0.561000	0.74099	GCA	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252298.2		-	ENST00000393868.2	Missense_Mutation	SNP	2 : 84668499 - 84668499 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	426	20
AP4E1	23431	broad.mit.edu	37	15	51293373	51293373	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51293373G>T	ENST00000561397.1	+	0	286				AP4E1_ENST00000560508.1_Missense_Mutation_p.E1007D|AP4E1_ENST00000261842.5_Missense_Mutation_p.E1082D			Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	NA					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		ATATTATTGAGATTATAGGTT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	80	79			NA	NA	15		NA											NA				51293373		2196	4294	6490	SO:0001624	3_prime_UTR_variant			AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014	23431	23431			573	protein-coding gene	gene with protein product		607244			NA	10436028, 21620353	Standard		NM_007347	NA	Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000561397.1:c.*283G>T	15.37:g.51293373G>T		NA	A0AVD6|A1L4A9|A6NNX7|Q9Y588	37		.	.	.	.	.	.	.	.	.	.	G	0.015	-1.541238	0.00934	.	.	ENSG00000081014	ENST00000261842	T	0.18502	2.21	4.93	-3.71	0.04424	Coatomer, beta subunit, C-terminal (1);	0.312135	0.35615	N	0.003083	T	0.03651	0.0104	N	0.04203	-0.255	0.27938	N	0.937604	B	0.02656	0.0	B	0.08055	0.003	T	0.32824	-0.9892	10	0.02654	T	1	-3.3318	1.2787	0.02036	0.47:0.1469:0.1173:0.2658	.	1082	Q9UPM8	AP4E1_HUMAN	D	1082	ENSP00000261842:E1082D	ENSP00000261842:E1082D	E	+	3	2	AP4E1	49080665	0.066000	0.20996	0.442000	0.26870	0.102000	0.19082	-0.350000	0.07721	-0.513000	0.06496	-1.204000	0.01649	GAG	AP4E1-006	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000418659.1		+	ENST00000561397.1	3'UTR	SNP	15 : 51293373 - 51293373 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	256	54
ADAM29	11086	broad.mit.edu	37	4	175899058	175899058	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:175899058G>T	ENST00000359240.3	+	5	3052	c.2382G>T	c.(2380-2382)caG>caT	p.Q794H	ADAM29_ENST00000404450.4_Missense_Mutation_p.Q794H|ADAM29_ENST00000445694.1_Missense_Mutation_p.Q794H|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.Q794H	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	794	9 X 9 AA approximate repeats.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CGCCTTCCCAGAGTCAACCTC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(140;1727 1835 21805 25838 41440)							NA				0													153	143	146			NA	NA	4		NA											NA				175899058		2203	4300	6503	SO:0001583	missense			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594	11086	11086		ADAM metallopeptidase domain containing	207	protein-coding gene	gene with protein product	cancer/testis antigen 73	604778	a disintegrin and metalloproteinase domain 29		NA	10644455	Standard		NM_014269	NA	Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2382G>T	4.37:g.175899058G>T	ENSP00000352177:p.Gln794His	NA	Q9UHP1|Q9UKF3|Q9UKF4	37	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	9.694	1.152653	0.21371	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.01998	4.51;4.51;4.51;4.51	0.727	0.727	0.18254	.	.	.	.	.	T	0.02012	0.0063	N	0.08118	0	0.22835	N	0.998676	D	0.54964	0.969	P	0.52909	0.713	T	0.52328	-0.8590	8	.	.	.	.	4.5501	0.12108	0.0:0.4193:0.5806:0.0	.	794	Q9UKF5	ADA29_HUMAN	H	794	ENSP00000352177:Q794H;ENSP00000414544:Q794H;ENSP00000384229:Q794H;ENSP00000423517:Q794H	.	Q	+	3	2	ADAM29	176135633	0.001000	0.12720	0.031000	0.17742	0.054000	0.15201	0.177000	0.16801	0.675000	0.31264	0.297000	0.19635	CAG	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding			+	ENST00000359240.3	Missense_Mutation	SNP	4 : 175899058 - 175899058 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	800	132
GZF1	64412	broad.mit.edu	37	20	23350348	23350348	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23350348C>T	ENST00000338121.5	+	5	1832	c.1755C>T	c.(1753-1755)acC>acT	p.T585T	GZF1_ENST00000377051.2_Silent_p.T585T|GZF1_ENST00000544236.1_Silent_p.T109T|GZF1_ENST00000542987.1_Silent_p.T94T			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	585					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GGACATTCACCGACAAGTCCA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	79	86			NA	NA	20		NA											NA				23350348		2203	4300	6503	SO:0001819	synonymous_variant			AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812	64412	64412		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	15808	protein-coding gene	gene with protein product		613842	zinc finger protein 336	ZNF336	NA	14522971, 16049025	Standard	NM_022482	NM_022482	NA	Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.1755C>T	20.37:g.23350348C>T		NA	A8K199|B2RBC3|B3KPL4|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	37	CCDS13151.1																																																																																			GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078333.1		+	ENST00000338121.5	Silent	SNP	20 : 23350348 - 23350348 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	464	79
PRDM2	7799	broad.mit.edu	37	1	14109100	14109100	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:14109100T>G	ENST00000235372.7	+	8	5666	c.4810T>G	c.(4810-4812)Tcc>Gcc	p.S1604A	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.S1403A|PRDM2_ENST00000343137.4_Missense_Mutation_p.S1403A|PRDM2_ENST00000311066.5_Missense_Mutation_p.S1604A|PRDM2_ENST00000505823.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1604						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TGCTCAGCTTTCCAGCAAAAC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	75	74			NA	NA	1		NA											NA				14109100		2203	4300	6503	SO:0001583	missense			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731	7799	7799		Chromatin-modifying enzymes / K-methyltransferases	9347	protein-coding gene	gene with protein product	retinoblastoma protein-binding zinc finger protein, retinoblastoma protein-interacting zinc finger protein, MTE-binding protein, zinc-finger DNA-binding protein, GATA-3 binding protein G3B	601196			NA	7538672	Standard	NM_012231	NM_012231	NA	Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.4810T>G	1.37:g.14109100T>G	ENSP00000235372:p.Ser1604Ala	NA	Q13149|Q14550|Q5VUL9	37	CCDS150.1	.	.	.	.	.	.	.	.	.	.	T	0.736	-0.778059	0.02929	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01505	4.94;4.82;4.83;4.83	6.07	2.34	0.29019	.	0.425927	0.25929	N	0.027383	T	0.01124	0.0037	N	0.17674	0.51	0.09310	N	1	B;B;B	0.22683	0.073;0.0;0.0	B;B;B	0.12837	0.008;0.0;0.001	T	0.48490	-0.9031	10	0.05620	T	0.96	.	8.4467	0.32847	0.1201:0.0:0.4366:0.4433	.	1462;1604;1604	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	A	1604;1604;1604;1403;1403	ENSP00000235372:S1604A;ENSP00000312352:S1604A;ENSP00000411103:S1403A;ENSP00000341621:S1403A	ENSP00000235372:S1604A	S	+	1	0	PRDM2	13981687	0.000000	0.05858	0.741000	0.31004	0.125000	0.20455	0.034000	0.13776	0.540000	0.28808	0.533000	0.62120	TCC	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021792.2		+	ENST00000235372.7	Missense_Mutation	SNP	1 : 14109100 - 14109100 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	344	37
LRRC4B	94030	broad.mit.edu	37	19	51022052	51022052	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51022052C>T	ENST00000599957.1	-	3	1115	c.918G>A	c.(916-918)gtG>gtA	p.V306V	LRRC4B_ENST00000389201.3_Silent_p.V306V			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	306						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GGTTGAGGTGCACGCGCTCGA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	91	87			NA	NA	19		NA											NA				51022052		2176	4265	6441	SO:0001819	synonymous_variant			BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409	94030	94030		Immunoglobulin superfamily / I-set domain containing, Endogenous ligands	25042	protein-coding gene	gene with protein product	netrin-G3 ligand		leucine-rich repeats and immunoglobulin-like domains 4	LRIG4	NA	11441184	Standard	NM_001080457	NM_001080457	NA	Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.918G>A	19.37:g.51022052C>T		NA	Q3ZCQ4|Q58F20	37	CCDS42595.1																																																																																			LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464907.1		-	ENST00000599957.1	Silent	SNP	19 : 51022052 - 51022052 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	536	115
DNAH1	25981	broad.mit.edu	37	3	52425296	52425296	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52425296C>T	ENST00000420323.2	+	62	10104	c.9843C>T	c.(9841-9843)aaC>aaT	p.N3281N		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3346	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCCTGGAGAACGTGGGCGAGG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	35	33			NA	NA	3		NA											NA				52425296		2159	4252	6411	SO:0001819	synonymous_variant			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841	25981	25981		Axonemal dyneins	2940	protein-coding gene	gene with protein product		603332	dynein, axonemal, heavy polypeptide 1		NA	8812413, 9256245	Standard	NM_015512	NM_015512	NA	Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.9843C>T	3.37:g.52425296C>T		NA	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	0.704	-0.789874	0.02884	.	.	ENSG00000114841	ENST00000480649	.	.	.	4.46	-7.97	0.01139	.	.	.	.	.	T	0.61223	0.2330	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67055	-0.5767	4	.	.	.	.	14.9602	0.71151	0.0:0.5399:0.0:0.4601	.	.	.	.	C	93	.	.	R	+	1	0	DNAH1	52400336	0.004000	0.15560	0.845000	0.33349	0.137000	0.21094	-1.529000	0.02223	-1.758000	0.01315	-0.768000	0.03414	CGT	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350816.1		+	ENST00000420323.2	Silent	SNP	3 : 52425296 - 52425296 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	104	23
SEC16A	9919	broad.mit.edu	37	9	139341761	139341761	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139341761G>A	ENST00000371706.3	-	25	6114	c.6081C>T	c.(6079-6081)agC>agT	p.S2027S	SEC16A_ENST00000398335.1_3'UTR|SEC16A_ENST00000313084.5_Silent_p.S211S|SEC16A_ENST00000290037.6_Silent_p.S2027S|SEC16A_ENST00000313050.7_Silent_p.S2205S|SEC16A_ENST00000431893.2_Silent_p.S2027S			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2027	Pro-rich.|Required for interaction with SEC23A.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GAGCCGGCTCGCTCCGCTGGG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	22	20			NA	NA	9		NA											NA				139341761		1995	4146	6141	SO:0001819	synonymous_variant			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396	9919	9919			29006	protein-coding gene	gene with protein product		612854	KIAA0310	KIAA0310	NA	9205841	Standard	XM_088459	NM_014866	NA	Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.6081C>T	9.37:g.139341761G>A		NA	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	37		.	.	.	.	.	.	.	.	.	.	G	4.974	0.180962	0.09443	.	.	ENSG00000148396	ENST00000433860	.	.	.	5.26	-9.11	0.00711	.	.	.	.	.	.	.	.	.	.	.	0.32196	N	0.578475	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.8904	4.3182	0.11003	0.5247:0.0934:0.29:0.092	.	.	.	.	X	335	.	.	R	-	1	2	SEC16A	138461582	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.912000	0.01582	-1.771000	0.01293	-1.804000	0.00617	CGA	SEC16A-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000055077.1		-	ENST00000371706.3	Silent	SNP	9 : 139341761 - 139341761 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	46	4
ZNF425	155054	broad.mit.edu	37	7	148801988	148801988	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148801988G>A	ENST00000378061.2	-	4	1107	c.975C>T	c.(973-975)agC>agT	p.S325S		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	325					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCTTCTCTCCGCTGTGCAGCC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	34	35			NA	NA	7		NA											NA				148801988		2203	4300	6503	SO:0001819	synonymous_variant			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947	155054	155054		Zinc fingers, C2H2-type, -	20690	protein-coding gene	gene with protein product					NA		Standard	XM_088140	NM_001001661	NA	Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.975C>T	7.37:g.148801988G>A		NA	B3KPM1|Q08AG3	37	CCDS34773.1																																																																																			ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352726.1		-	ENST00000378061.2	Silent	SNP	7 : 148801988 - 148801988 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	309	46
POLI	11201	broad.mit.edu	37	18	51807102	51807102	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51807102C>T	ENST00000579434.1	+	4	850	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	POLI_ENST00000217800.5_Missense_Mutation_p.R83W|POLI_ENST00000579534.1_Missense_Mutation_p.R209W|POLI_ENST00000406285.3_Intron			Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	209	UmuC.				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	p.R184W(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AGCAGAGATGCGGGAAGCCAT	0.413		NA						DNA polymerases (catalytic subunits)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											175	173	174			NA	NA	18		NA											NA				51807102		2203	4300	6503	SO:0001583	missense				CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751	11201	11201		DNA polymerases	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B	NA	17609217	Standard	NM_007195	NM_007195	NA	Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579434.1:c.316C>T	18.37:g.51807102C>T	ENSP00000462681:p.Arg106Trp	NA	Q8N590|Q9H0S1|Q9NYH6	37		.	.	.	.	.	.	.	.	.	.	C	13.50	2.256370	0.39896	.	.	ENSG00000101751	ENST00000217800	.	.	.	5.72	3.66	0.41972	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	0.000000	0.85682	D	0.000000	D	0.86293	0.5898	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89414	0.3705	9	0.87932	D	0	-12.2842	11.161	0.48516	0.4562:0.5438:0.0:0.0	.	209	Q9UNA4	POLI_HUMAN	W	209	.	ENSP00000217800:R209W	R	+	1	2	POLI	50061100	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.595000	0.54016	1.542000	0.49330	0.650000	0.86243	CGG	POLI-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000447961.1		+	ENST00000579434.1	Missense_Mutation	SNP	18 : 51807102 - 51807102 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	946	167
VPS51	738	broad.mit.edu	37	11	64875903	64875903	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64875903G>A	ENST00000279281.3	+	5	1052	c.960G>A	c.(958-960)gcG>gcA	p.A320A	VPS51_ENST00000527646.1_3'UTR	NM_013265.2	NP_037397.2			vacuolar protein sorting 51 homolog (S. cerevisiae)	NA											NA						AGGTGGCGGCGGCCTACCAGG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	21	20			NA	NA	11		NA											NA				64875903		2190	4288	6478	SO:0001819	synonymous_variant			AF024631	CCDS8093.1	11q13.1	2012-07-19	2012-07-19	2012-07-19	ENSG00000149823	ENSG00000149823	738	738			1172	protein-coding gene	gene with protein product	fat-free homolog (zebrafish)	615738	chromosome 11 open reading frame 3, chromosome 11 open reading frame 2	C11orf3, C11orf2	NA	9286704, 20685960	Standard	NM_013265	NM_013265	NA	Approved	ANG2, ANG3, FFR	uc001ocr.2	Q9UID3	OTTHUMG00000165600	ENST00000279281.3:c.960G>A	11.37:g.64875903G>A		NA		37	CCDS8093.1																																																																																			VPS51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385217.1		+	ENST00000279281.3	Silent	SNP	11 : 64875903 - 64875903 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	282	47
MFAP4	4239	broad.mit.edu	37	17	19287868	19287868	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19287868G>A	ENST00000395592.2	-	6	818	c.747C>T	c.(745-747)tcC>tcT	p.S249S	MFAP4_ENST00000299610.4_Silent_p.S225S|MFAP4_ENST00000497081.2_Silent_p.S250S	NM_001198695.1	NP_001185624.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	225	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding			large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					AAGAGAGGTGGGAGCCACCTA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	45	45			NA	NA	17		NA											NA				19287868		2203	4300	6503	SO:0001819	synonymous_variant			L38486	CCDS11208.1, CCDS56023.1	17p11.2	2013-02-06			ENSG00000166482	ENSG00000166482	4239	4239		Fibrinogen C domain containing	7035	protein-coding gene	gene with protein product	microfibril-associated glycoprotein 4	600596			NA	7633408	Standard	NM_002404	NM_001198695	NA	Approved		uc002gvs.3	P55083	OTTHUMG00000059585	ENST00000395592.2:c.747C>T	17.37:g.19287868G>A		NA	A8KAJ1|Q6P680	37	CCDS56023.1																																																																																			MFAP4-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132547.3		-	ENST00000395592.2	Silent	SNP	17 : 19287868 - 19287868 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	180	37
TRIP11	9321	broad.mit.edu	37	14	92465608	92465608	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92465608G>A	ENST00000267622.4	-	13	5241	c.4868C>T	c.(4867-4869)tCc>tTc	p.S1623F		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1623					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TGCATTAGAGGATGAAACTAG	0.328		NA	T	PDGFRB	AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(84;609 1888 9852 42686)		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													105	96	99			NA	NA	14		NA											NA				92465608		2203	4300	6503	SO:0001583	missense			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815	9321	9321			12305	protein-coding gene	gene with protein product		604505			NA	7776974, 9373237	Standard		NM_004239	NA	Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.4868C>T	14.37:g.92465608G>A	ENSP00000267622:p.Ser1623Phe	NA	O14689|O15154|O95949	37	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318692	0.81469	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.06528	3.29	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.29620	0.0739	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.02450	-1.1157	10	0.87932	D	0	.	19.1395	0.93443	0.0:0.0:1.0:0.0	.	1359;1623	F5H1Z0;Q15643	.;TRIPB_HUMAN	F	1623;1359	ENSP00000267622:S1623F	ENSP00000267622:S1623F	S	-	2	0	TRIP11	91535361	1.000000	0.71417	0.990000	0.47175	0.886000	0.51366	8.971000	0.93419	2.538000	0.85594	0.655000	0.94253	TCC	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411823.1		-	ENST00000267622.4	Missense_Mutation	SNP	14 : 92465608 - 92465608 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	45
LCP1	3936	broad.mit.edu	37	13	46730615	46730615	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46730615G>A	ENST00000398576.2	-	8	837	c.449C>T	c.(448-450)aCg>aTg	p.T150M	LCP1_ENST00000323076.2_Missense_Mutation_p.T150M			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	150	Actin-binding 1.|CH 1.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		GAGATCATTCGTGTTTGGGTT	0.393		NA	T	BCL6	NHL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		13	13q14.1-q14.3	3936	lymphocyte cytosolic protein 1 (L-plastin)		L	0													251	239	243			NA	NA	13		NA											NA				46730615		2203	4300	6503	SO:0001583	missense			M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167	3936	3936		EF-hand domain containing	6528	protein-coding gene	gene with protein product	plastin 2	153430			NA	2111166	Standard	NM_002298	NM_002298	NA	Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.449C>T	13.37:g.46730615G>A	ENSP00000381581:p.Thr150Met	NA	B2R613|Q5TBN4	37	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681947	0.47991	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000416500	D;D;D	0.95788	-3.81;-3.81;-3.81	5.61	5.61	0.85477	Calponin homology domain (5);	0.043588	0.85682	D	0.000000	D	0.94509	0.8232	M	0.76170	2.325	0.80722	D	1	P	0.40638	0.725	B	0.34301	0.179	D	0.94563	0.7764	10	0.52906	T	0.07	-18.0852	18.9874	0.92777	0.0:0.0:1.0:0.0	.	150	P13796	PLSL_HUMAN	M	150	ENSP00000315757:T150M;ENSP00000381581:T150M;ENSP00000408052:T150M	ENSP00000315757:T150M	T	-	2	0	LCP1	45628616	1.000000	0.71417	0.953000	0.39169	0.908000	0.53690	3.691000	0.54720	2.813000	0.96785	0.655000	0.94253	ACG	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044800.3		-	ENST00000398576.2	Missense_Mutation	SNP	13 : 46730615 - 46730615 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	941	131
RBP3	5949	broad.mit.edu	37	10	48390460	48390460	+	Missense_Mutation	SNP	C	C	T	rs34932849	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:48390460C>T	ENST00000224600.4	-	1	531	c.418G>A	c.(418-420)Ggc>Agc	p.G140S		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	140	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	ACCTCCTGGCCCGGGACGCTG	0.637		NA											C	1	5e-04	0.002	NA	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.8642	EXOME	NA	NA	0.0019	SNP								NA				0								C	SER/GLY	16,4390	23.3+/-48.9	0,16,2187	68	75	73		418	1.6	0	10	dbSNP_126	73	0,8600		0,0,4300	yes	missense	RBP3	NM_002900.2	56	0,16,6487	TT,TC,CC	NA	0.0,0.3631,0.123	possibly-damaging	140/1248	48390460	16,12990	2203	4300	6503	SO:0001583	missense			M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203	5949	5949			9921	protein-coding gene	gene with protein product		180290	retinol-binding protein 3, interstitial		NA		Standard	NM_002900	NM_002900	NA	Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.418G>A	10.37:g.48390460C>T	ENSP00000224600:p.Gly140Ser	NA	Q5VSR0	37	CCDS7218.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	13.52	2.262480	0.39995	0.003631	0.0	ENSG00000107618	ENST00000224600	T	0.63096	-0.02	5.7	1.6	0.23607	Interphotoreceptor retinol-binding (2);	0.295374	0.42294	N	0.000726	T	0.68805	0.3041	L	0.46157	1.445	0.37162	D	0.902659	D	0.71674	0.998	D	0.76575	0.988	T	0.69518	-0.5124	10	0.56958	D	0.05	-14.0283	9.285	0.37751	0.0:0.6973:0.0:0.3027	rs34932849	140	P10745	RET3_HUMAN	S	140	ENSP00000224600:G140S	ENSP00000224600:G140S	G	-	1	0	RBP3	48010466	0.213000	0.23551	0.010000	0.14722	0.012000	0.07955	1.170000	0.31883	0.030000	0.15379	0.650000	0.86243	GGC	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047888.1		-	ENST00000224600.4	Missense_Mutation	SNP	10 : 48390460 - 48390460 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	589	22
TBX15	6913	broad.mit.edu	37	1	119474288	119474288	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:119474288G>A	ENST00000369429.3	-	2	382	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	TBX15_ENST00000207157.3_Missense_Mutation_p.R19W			Q96SF7	TBX15_HUMAN	T-box 15	125						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TCATGGAACCGCTTCCAGAGG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	87	91			NA	NA	1		NA											NA				119474288		2203	4300	6503	SO:0001583	missense			AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607	6913	6913		T-boxes	11594	protein-coding gene	gene with protein product		604127	T-box 14	TBX14	NA	9693034	Standard	NM_152380	XM_005271162	NA	Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.373C>T	1.37:g.119474288G>A	ENSP00000358437:p.Arg125Trp	NA	Q08E76|Q5JT54|Q5T9S7	37		.	.	.	.	.	.	.	.	.	.	G	17.98	3.521076	0.64747	.	.	ENSG00000092607	ENST00000207157;ENST00000369429	D;D	0.88586	-2.4;-2.4	5.97	2.19	0.27852	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.049918	0.85682	D	0.000000	D	0.93706	0.7989	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94414	0.7634	10	0.87932	D	0	.	13.4602	0.61223	0.0:0.0:0.3887:0.6113	.	125	Q96SF7	TBX15_HUMAN	W	19;125	ENSP00000207157:R19W;ENSP00000358437:R125W	ENSP00000207157:R19W	R	-	1	2	TBX15	119275811	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.349000	0.33998	0.492000	0.27815	-0.485000	0.04761	CGG	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000034351.1		-	ENST00000369429.3	Missense_Mutation	SNP	1 : 119474288 - 119474288 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	223	27
TLDC2	140711	broad.mit.edu	37	20	35504596	35504596	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35504596C>T	ENST00000217320.3	+	1	63	c.19C>T	c.(19-21)Cgt>Tgt	p.R7C	TLDC2_ENST00000602922.1_Missense_Mutation_p.R7C	NM_080628.1	NP_542195.1			TBC/LysM-associated domain containing 2	NA											NA						CCTCCGCTGGCGTTACACTCG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	140	142			NA	NA	20		NA											NA				35504596		2203	4300	6503	SO:0001583	missense			AL079335	CCDS33465.1	20q11.23	2013-03-14	2013-03-14	2013-03-14	ENSG00000101342	ENSG00000101342	140711	140711			16112	protein-coding gene	gene with protein product	hypothetical protein LOC140711, TLD domain containing 2		chromosome 20 open reading frame 118	C20orf118	NA		Standard	NM_080628	NM_080628	NA	Approved	dJ132F21.2	uc002xgg.1	A0PJX2	OTTHUMG00000032400	ENST00000217320.3:c.19C>T	20.37:g.35504596C>T	ENSP00000217320:p.Arg7Cys	NA		37	CCDS33465.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478511	0.63849	.	.	ENSG00000101342	ENST00000217320	T	0.33654	1.4	4.38	4.38	0.52667	.	0.591399	0.15017	N	0.285194	T	0.50188	0.1601	L	0.51422	1.61	0.44432	D	0.997352	D	0.89917	1.0	P	0.61722	0.893	T	0.50021	-0.8876	10	0.87932	D	0	-10.5235	12.6137	0.56565	0.0:1.0:0.0:0.0	.	7	A0PJX2	CT118_HUMAN	C	7	ENSP00000217320:R7C	ENSP00000217320:R7C	R	+	1	0	C20orf118	34938010	1.000000	0.71417	0.998000	0.56505	0.707000	0.40811	3.138000	0.50570	2.440000	0.82611	0.561000	0.74099	CGT	TLDC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079060.2		+	ENST00000217320.3	Missense_Mutation	SNP	20 : 35504596 - 35504596 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	832	148
ANK3	288	broad.mit.edu	37	10	61832967	61832967	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61832967G>A	ENST00000280772.2	-	37	7863	c.7672C>T	c.(7672-7674)Cgc>Tgc	p.R2558C	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	NA					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCAGTAAAGCGCATCCACATG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,,,CYS/ARG	0,4406		0,0,2203	151	139	143		,,,7672	5.5	1	10		143	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,intron,missense	ANK3	NM_001149.3,NM_001204403.1,NM_001204404.1,NM_020987.3	,,,180	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	,,,possibly-damaging	,,,2558/4378	61832967	1,13005	2203	4300	6503	SO:0001583	missense			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150	288	288		Ankyrin repeat domain containing	494	protein-coding gene	gene with protein product	ankyrin-3, node of Ranvier, ankyrin-G	600465			NA	7665168	Standard	NM_020987	NM_020987	NA	Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.7672C>T	10.37:g.61832967G>A	ENSP00000280772:p.Arg2558Cys	NA	Q5VXD5	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036538	0.54896	0.0	1.16E-4	ENSG00000151150	ENST00000280772	T	0.70164	-0.46	5.47	5.47	0.80525	.	0.258119	0.23413	N	0.048452	T	0.69860	0.3158	L	0.55481	1.735	0.80722	D	1	D	0.61697	0.99	P	0.46885	0.53	T	0.74309	-0.3707	10	0.72032	D	0.01	.	19.3349	0.94312	0.0:0.0:1.0:0.0	.	2558	Q12955	ANK3_HUMAN	C	2558	ENSP00000280772:R2558C	ENSP00000280772:R2558C	R	-	1	0	ANK3	61502973	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.993000	0.88291	2.564000	0.86499	0.462000	0.41574	CGC	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048201.4		-	ENST00000280772.2	Missense_Mutation	SNP	10 : 61832967 - 61832967 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	779	134
USH2A	7399	broad.mit.edu	37	1	215848163	215848163	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215848163G>A	ENST00000307340.3	-	63	13476	c.13090C>T	c.(13090-13092)Ctt>Ttt	p.L4364F	USH2A_ENST00000366943.2_Missense_Mutation_p.L4364F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4364	Fibronectin type-III 29.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACGGCCCAAAGATCTGGAGGG	0.473		NA								HNSCC(13;0.011)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	55	55			NA	NA	1		NA											NA				215848163		2203	4300	6503	SO:0001583	missense			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781	7399	7399		Fibronectin type III domain containing	12601	protein-coding gene	gene with protein product	usherin	608400		USH2	NA	9624053, 10729113	Standard	NM_007123	NM_007123	NA	Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.13090C>T	1.37:g.215848163G>A	ENSP00000305941:p.Leu4364Phe	NA	Q5VVM9|Q6S362|Q9NS27	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353439	0.41700	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.56103	0.48;0.48	5.12	5.12	0.69794	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.205043	0.23971	U	0.042762	T	0.60104	0.2243	L	0.55990	1.75	0.09310	N	0.999996	D	0.55385	0.971	P	0.62298	0.9	T	0.51865	-0.8651	10	0.22706	T	0.39	.	8.7583	0.34658	0.0795:0.1522:0.7683:0.0	.	4364	O75445	USH2A_HUMAN	F	4364	ENSP00000305941:L4364F;ENSP00000355910:L4364F	ENSP00000305941:L4364F	L	-	1	0	USH2A	213914786	0.956000	0.32656	0.016000	0.15963	0.471000	0.32888	2.023000	0.41040	2.384000	0.81235	0.467000	0.42956	CTT	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128138.1		-	ENST00000307340.3	Missense_Mutation	SNP	1 : 215848163 - 215848163 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	373	81
LDLRAD4	753	broad.mit.edu	37	18	13387753	13387753	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13387753C>A	ENST00000399848.3	+	3	700	c.32C>A	c.(31-33)gCt>gAt	p.A11D	LDLRAD4_ENST00000359446.5_Missense_Mutation_p.A11D|LDLRAD4_ENST00000361205.4_Missense_Mutation_p.A11D	NM_181482.3	NP_852147.1			low density lipoprotein receptor class A domain containing 4	NA											NA						GCCACAAATGCTTTCACAGGT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	123	131			NA	NA	18		NA											NA				13387753		2203	4300	6503	SO:0001583	missense			AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675	753	753			1224	protein-coding gene	gene with protein product	clone 22	606571	chromosome 18 open reading frame 1	C18orf1	NA	9479497, 9129712, 24627487	Standard	NM_181481	NM_181482	NA	Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000399848.3:c.32C>A	18.37:g.13387753C>A	ENSP00000382741:p.Ala11Asp	NA		37	CCDS32794.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821178	0.50633	.	.	ENSG00000168675	ENST00000361205;ENST00000399848	T;T	0.27557	1.68;1.66	4.93	4.93	0.64822	.	0.266496	0.28671	N	0.014536	T	0.25121	0.0610	N	0.14661	0.345	0.80722	D	1	B;P	0.36065	0.354;0.535	B;B	0.39805	0.31;0.164	T	0.10359	-1.0633	10	0.45353	T	0.12	-0.5824	18.1459	0.89655	0.0:1.0:0.0:0.0	.	11;11	O15165-2;O15165	.;CR001_HUMAN	D	11	ENSP00000354753:A11D;ENSP00000382741:A11D	ENSP00000354753:A11D	A	+	2	0	C18orf1	13377753	1.000000	0.71417	0.999000	0.59377	0.400000	0.30750	5.706000	0.68362	2.299000	0.77371	0.591000	0.81541	GCT	LDLRAD4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458325.1		+	ENST00000399848.3	Missense_Mutation	SNP	18 : 13387753 - 13387753 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	471	96
MRPL48	51642	broad.mit.edu	37	11	73555945	73555945	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73555945G>A	ENST00000411840.2	+	0	625				MRPL48_ENST00000535529.1_Missense_Mutation_p.D81N|MRPL48_ENST00000310614.7_Missense_Mutation_p.D99N|MRPL48_ENST00000398483.3_5'UTR|MRPL48_ENST00000542303.1_Intron|MRPL48_ENST00000314282.7_5'UTR			Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48	NA					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			kidney(1)	1						GACTGCATATGATATGACCCT	0.418		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	11		NA											NA				73555945		1856	4088	5944	SO:0001623	5_prime_UTR_variant			AF151876	CCDS44676.1	11q13.4	2012-09-13			ENSG00000175581	ENSG00000175581	51642	51642		Mitochondrial ribosomal proteins / large subunits	16653	protein-coding gene	gene with protein product		611853			NA	10810093	Standard	NM_016055	NM_016055	NA	Approved	CGI-118	uc001ouh.4	Q96GC5	OTTHUMG00000168048	ENST00000411840.2:c.-3G>A	11.37:g.73555945G>A		NA	Q49AK7|Q4U2Q4|Q9P091|Q9Y5J0	37		.	.	.	.	.	.	.	.	.	.	G	27.2	4.808917	0.90707	.	.	ENSG00000175581	ENST00000310614;ENST00000535529	T	0.64085	-0.08	5.53	5.53	0.82687	.	0.044994	0.85682	D	0.000000	T	0.73281	0.3567	M	0.72353	2.195	0.58432	D	0.999995	D;D	0.63880	0.993;0.991	P;P	0.61477	0.889;0.831	T	0.74453	-0.3660	10	0.51188	T	0.08	-13.9634	10.4017	0.44233	0.0889:0.0:0.9111:0.0	.	81;99	B4DN34;Q96GC5	.;RM48_HUMAN	N	99;81	ENSP00000308717:D99N	ENSP00000308717:D99N	D	+	1	0	MRPL48	73233593	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.168000	0.71908	2.600000	0.87896	0.591000	0.81541	GAT	MRPL48-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000397739.1		+	ENST00000411840.2	5'UTR	SNP	11 : 73555945 - 73555945 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	218	56
PHC3	80012	broad.mit.edu	37	3	169846869	169846869	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169846869A>C	ENST00000495893.2	-	8	1422	c.1391T>G	c.(1390-1392)cTt>cGt	p.L464R	PHC3_ENST00000494943.1_Missense_Mutation_p.L452R|PHC3_ENST00000467570.1_Missense_Mutation_p.L411R	NM_024947.3	NP_079223.3	Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	NA	Gln-rich.|Pro-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			ATGGGATGGAAGATTCAACTG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	65	64			NA	NA	3		NA											NA				169846869		2085	4211	6296	SO:0001583	missense				CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889	80012	80012		Sterile alpha motif (SAM) domain containing	15682	protein-coding gene	gene with protein product	early development regulator 3, polyhomeotic like 3		polyhomeotic like 3 (Drosophila)		NA	12167701, 12384788	Standard	NM_024947	NM_024947	NA	Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000495893.2:c.1391T>G	3.37:g.169846869A>C	ENSP00000420294:p.Leu464Arg	NA	A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	37	CCDS46952.1	.	.	.	.	.	.	.	.	.	.	A	14.10	2.434475	0.43224	.	.	ENSG00000173889	ENST00000494943;ENST00000495893;ENST00000467570	T;T	0.33865	1.39;1.4	4.9	4.9	0.64082	.	0.000000	0.56097	D	0.000023	T	0.47395	0.1443	L	0.44542	1.39	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.995;0.997	D;D;P;D	0.66351	0.943;0.943;0.878;0.943	T	0.27872	-1.0061	10	0.15952	T	0.53	-11.6484	14.6811	0.69017	1.0:0.0:0.0:0.0	.	411;411;452;464	B4E2T1;E7EX82;Q8NDX5;Q8NDX5-7	.;.;PHC3_HUMAN;.	R	452;464;411	ENSP00000420271:L452R;ENSP00000420294:L464R	ENSP00000419089:L411R	L	-	2	0	PHC3	171329563	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.432000	0.66514	2.039000	0.60335	0.460000	0.39030	CTT	PHC3-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352186.3		-	ENST00000495893.2	Missense_Mutation	SNP	3 : 169846869 - 169846869 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	119	29
CNOT6L	246175	broad.mit.edu	37	4	78695823	78695823	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78695823T>G	ENST00000504123.1	-	3	305	c.175A>C	c.(175-177)Aca>Cca	p.T59P	CNOT6L_ENST00000264903.4_Missense_Mutation_p.T59P|CNOT6L_ENST00000506166.1_5'UTR			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	59					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TGCAGCGCTGTCAAGTGTGTC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	82	83			NA	NA	4		NA											NA				78695823		1969	4180	6149	SO:0001583	missense			AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767	246175	246175			18042	protein-coding gene	gene with protein product					NA		Standard		NM_144571	NA	Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.175A>C	4.37:g.78695823T>G	ENSP00000424896:p.Thr59Pro	NA	Q9UF92	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.8|23.8	4.459601|4.459601	0.84317|0.84317	.|.	.|.	ENSG00000138767|ENSG00000138767	ENST00000515506|ENST00000504123;ENST00000264903;ENST00000512485;ENST00000515441	.|T;T;T;T	.|0.59224	.|0.28;0.28;0.28;0.28	4.29|4.29	4.29|4.29	0.51040|0.51040	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72252|0.72252	0.3437|0.3437	L|L	0.61218|0.61218	1.895|1.895	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	T|T	0.75761|0.75761	-0.3204|-0.3204	5|10	.|0.72032	.|D	.|0.01	-14.9073|-14.9073	13.7427|13.7427	0.62857|0.62857	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|59;59	.|B4E2S0;Q96LI5	.|.;CNO6L_HUMAN	A|P	87|59;59;66;59	.|ENSP00000424896:T59P;ENSP00000264903:T59P;ENSP00000425571:T66P;ENSP00000426269:T59P	.|ENSP00000264903:T59P	D|T	-|-	2|1	0|0	CNOT6L|CNOT6L	78914847|78914847	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.946000|7.946000	0.87746|0.87746	1.685000|1.685000	0.51034|0.51034	0.459000|0.459000	0.35465|0.35465	GAC|ACA	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000362515.1		-	ENST00000504123.1	Missense_Mutation	SNP	4 : 78695823 - 78695823 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	190	29
BARD1	580	broad.mit.edu	37	2	215646005	215646005	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215646005G>A	ENST00000260947.4	-	4	727	c.593C>T	c.(592-594)gCt>gTt	p.A198V	BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Missense_Mutation_p.A54V	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	198					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCTTGCAGAAGCCTTTTTAGC	0.388		NA							Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	71	70			NA	NA	2		NA											NA				215646005		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376	580	580		Ankyrin repeat domain containing	952	protein-coding gene	gene with protein product		601593			NA	8944023, 9425226, 15159397	Standard	NM_000465	NM_001282548	NA	Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.593C>T	2.37:g.215646005G>A	ENSP00000260947:p.Ala198Val	NA	O43574|Q53SS5	37	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	G	4.438	0.081057	0.08533	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	T;T	0.72725	-0.68;-0.1	5.75	1.71	0.24356	.	0.813362	0.11148	N	0.594411	T	0.57051	0.2027	L	0.50333	1.59	0.09310	N	1	B;B	0.15473	0.005;0.013	B;B	0.13407	0.009;0.003	T	0.39210	-0.9625	10	0.12766	T	0.61	-3.1363	4.3336	0.11075	0.1329:0.2206:0.5298:0.1167	.	54;198	E7EUI3;Q99728	.;BARD1_HUMAN	V	198;54	ENSP00000260947:A198V;ENSP00000406752:A54V	ENSP00000260947:A198V	A	-	2	0	BARD1	215354250	0.289000	0.24334	0.020000	0.16555	0.033000	0.12548	1.470000	0.35354	0.878000	0.35920	0.650000	0.86243	GCT	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256602.1		-	ENST00000260947.4	Missense_Mutation	SNP	2 : 215646005 - 215646005 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	63
POTEG	404785	broad.mit.edu	37	14	19566057	19566057	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:19566057A>C	ENST00000409832.3	+	6	1153	c.1101A>C	c.(1099-1101)aaA>aaC	p.K367N	CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	367										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGATGCTAAAAGTCTCTTCTG	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	98	93			NA	NA	14		NA											NA				19566057		1508	2699	4207	SO:0001583	missense				CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036	404785	404785		POTE ankyrin domain containing, Ankyrin repeat domain containing	33896	protein-coding gene	gene with protein product	cancer/testis antigen family 104, member 4	608916	ANKRD26-like family C, member 2	A26C2	NA		Standard	NM_001005356	NR_027480	NA	Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.1101A>C	14.37:g.19566057A>C	ENSP00000386971:p.Lys367Asn	NA	A1L153|A6NMI9|Q6S5H6|Q6S8J2	37	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	a	10.67	1.416102	0.25552	.	.	ENSG00000222036	ENST00000409832	T	0.16897	2.31	2.2	-1.92	0.07618	Ankyrin repeat-containing domain (1);	.	.	.	.	T	0.13243	0.0321	L	0.48362	1.52	0.09310	N	1	B	0.21147	0.052	B	0.24541	0.054	T	0.34750	-0.9816	9	0.39692	T	0.17	.	5.1066	0.14787	0.3344:0.0:0.0:0.6656	.	367	Q6S5H5	POTEG_HUMAN	N	367	ENSP00000386971:K367N	ENSP00000386971:K367N	K	+	3	2	POTEG	18636057	0.006000	0.16342	0.001000	0.08648	0.008000	0.06430	0.146000	0.16180	-0.002000	0.14469	0.155000	0.16302	AAA	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408579.1		+	ENST00000409832.3	Missense_Mutation	SNP	14 : 19566057 - 19566057 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	519	36
SHANK2	22941	broad.mit.edu	37	11	70333167	70333167	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70333167G>T	ENST00000409161.1	-	9	1442	c.1443C>A	c.(1441-1443)ccC>ccA	p.P481P	SHANK2_ENST00000338508.4_Silent_p.P1078P|SHANK2_ENST00000449833.2_Silent_p.P482P|SHANK2_ENST00000423696.2_Silent_p.P698P			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	698					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CGGCGGCAAAGGGGCTGCTGA	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	35	33			NA	NA	11		NA											NA				70333167		2162	4210	6372	SO:0001819	synonymous_variant			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105	22941	22941		Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	14295	protein-coding gene	gene with protein product		603290	cortactin binding protein 1	CORTBP1	NA	10506216	Standard	NM_012309	XM_005277930	NA	Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000409161.1:c.1443C>A	11.37:g.70333167G>T		NA	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	37																																																																																				SHANK2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000259184.1		-	ENST00000409161.1	Silent	SNP	11 : 70333167 - 70333167 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	605	113
CPEB2	132864	broad.mit.edu	37	4	15060083	15060083	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15060083C>T	ENST00000259997.5	+	9	1238	c.1189C>T	c.(1189-1191)Cag>Tag	p.Q397*	CPEB2_ENST00000442003.2_Nonsense_Mutation_p.Q807*|CPEB2_ENST00000507071.1_Nonsense_Mutation_p.Q389*|CPEB2_ENST00000538197.1_Nonsense_Mutation_p.Q834*|CPEB2_ENST00000382401.3_Nonsense_Mutation_p.Q362*|CPEB2_ENST00000382395.3_Nonsense_Mutation_p.Q367*|RP11-665G4.1_ENST00000513384.1_RNA|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000345451.3_Nonsense_Mutation_p.Q359*|CPEB2_ENST00000541112.1_Nonsense_Mutation_p.Q826*			Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	389	RRM 1.				regulation of translation	cytoplasm	nucleotide binding|RNA binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						GAGCTCAGTTCAGGCACTCAT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	151	151			NA	NA	4		NA											NA				15060083		2203	4300	6503	SO:0001587	stop_gained			AY247744	CCDS56325.1, CCDS56326.1	4p15.33	2013-02-12			ENSG00000137449	ENSG00000137449	132864	132864		RNA binding motif (RRM) containing	21745	protein-coding gene	gene with protein product		610605			NA	12672660	Standard	XM_059607	NM_182485	NA	Approved		uc003gnk.2	Q7Z5Q1	OTTHUMG00000090669	ENST00000259997.5:c.1189C>T	4.37:g.15060083C>T	ENSP00000259997:p.Gln397*	NA	Q3B8N6|Q3MI89|Q3MI90|Q3MI92|Q7Z5Q0	37		.	.	.	.	.	.	.	.	.	.	C	38	7.145599	0.98092	.	.	ENSG00000137449	ENST00000538197;ENST00000541112;ENST00000442003;ENST00000507071;ENST00000345451;ENST00000382395;ENST00000382401;ENST00000259997;ENST00000382391;ENST00000509684	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-2.228	19.9533	0.97211	0.0:1.0:0.0:0.0	.	.	.	.	X	834;826;807;389;359;367;362;397;376;42	.	ENSP00000259997:Q397X	Q	+	1	0	CPEB2	14669181	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.818000	0.86416	2.725000	0.93324	0.585000	0.79938	CAG	CPEB2-007	NOVEL	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000359345.1		+	ENST00000259997.5	Nonsense_Mutation	SNP	4 : 15060083 - 15060083 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	55
SOX13	9580	broad.mit.edu	37	1	204091060	204091060	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204091060C>T	ENST00000367204.1	+	8	917	c.808C>T	c.(808-810)Cct>Tct	p.P270S		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	270	Pro-rich.			P -> L (in Ref. 4; AAD50120).	anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GCACAGCCCCCCTGCCCCAGT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	43	42			NA	NA	1		NA											NA				204091060		2007	4171	6178	SO:0001583	missense				CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842	9580	9580		SRY (sex determining region Y)-boxes	11192	protein-coding gene	gene with protein product	islet cell antibody 12, SRY-related HMG-box gene 13, type 1 diabetes autoantigen, SRY-box 13	604748			NA	10198172	Standard	NM_005686	NM_005686	NA	Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.808C>T	1.37:g.204091060C>T	ENSP00000356172:p.Pro270Ser	NA	B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	37	CCDS44299.1	.	.	.	.	.	.	.	.	.	.	C	4.887	0.164944	0.09287	.	.	ENSG00000143842	ENST00000367204	D	0.97620	-4.46	4.95	4.03	0.46877	.	0.103506	0.64402	D	0.000003	D	0.95252	0.8460	L	0.56769	1.78	0.32679	N	0.515761	B;B;B	0.10296	0.001;0.002;0.003	B;B;B	0.08055	0.002;0.003;0.003	D	0.94865	0.8025	10	0.59425	D	0.04	.	13.4842	0.61355	0.0:0.8434:0.1566:0.0	.	137;137;270	B4DX26;B4E3N9;Q9UN79	.;.;SOX13_HUMAN	S	270	ENSP00000356172:P270S	ENSP00000356172:P270S	P	+	1	0	SOX13	202357683	0.380000	0.25131	0.838000	0.33150	0.942000	0.58702	2.406000	0.44557	1.039000	0.40074	0.561000	0.74099	CCT	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087881.2		+	ENST00000367204.1	Missense_Mutation	SNP	1 : 204091060 - 204091060 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	173	22
PIK3R4	30849	broad.mit.edu	37	3	130405110	130405110	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130405110C>T	ENST00000356763.3	-	15	3977	c.3420G>A	c.(3418-3420)aaG>aaA	p.K1140K	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1140					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TGAGGCCCGACTTTAAATCAT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	114	117			NA	NA	3		NA											NA				130405110		2203	4300	6503	SO:0001819	synonymous_variant			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455	30849	30849		WD repeat domain containing	8982	protein-coding gene	gene with protein product		602610			NA	8999962	Standard	NM_014602	NM_014602	NA	Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.3420G>A	3.37:g.130405110C>T		NA	Q2TBF4	37	CCDS3067.1																																																																																			PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356668.1		-	ENST00000356763.3	Silent	SNP	3 : 130405110 - 130405110 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	338	63
TRPM1	4308	broad.mit.edu	37	15	31362299	31362299	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31362299T>G	ENST00000397795.2	-	3	261	c.148A>C	c.(148-150)Agc>Cgc	p.S50R	TRPM1_ENST00000559179.1_Missense_Mutation_p.S50R|TRPM1_ENST00000256552.6_Missense_Mutation_p.S72R|TRPM1_ENST00000542188.1_Missense_Mutation_p.S89R	NM_002420.5	NP_002411.3	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	50					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GTTGGGTAGCTCTGGGTGTGC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													383	365	371			NA	NA	15		NA											NA				31362299		1945	4150	6095	SO:0001583	missense			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160	4308	4308		Voltage-gated ion channels / Transient receptor potential cation channels	7146	protein-coding gene	gene with protein product		603576	melastatin 1	MLSN1	NA	9806836, 9537257, 16382100	Standard	NM_002420	NM_001252020	NA	Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000397795.2:c.148A>C	15.37:g.31362299T>G	ENSP00000380897:p.Ser50Arg	NA	O75560|Q7Z4N1|Q7Z4N3|Q7Z4N4|Q7Z4N5	37	CCDS10024.2	.	.	.	.	.	.	.	.	.	.	T	9.985	1.229159	0.22542	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.81415	-1.49;-1.49;-1.49	6.03	3.52	0.40303	.	0.439281	0.20773	U	0.085936	T	0.80199	0.4579	L	0.31926	0.97	0.09310	N	0.999996	D;B	0.56968	0.978;0.177	P;B	0.60609	0.877;0.122	T	0.69217	-0.5203	10	0.52906	T	0.07	-25.2032	8.0341	0.30482	0.0:0.1021:0.3481:0.5498	.	50;50	Q6PE48;Q7Z4N2	.;TRPM1_HUMAN	R	50;89;72;50	ENSP00000380897:S50R;ENSP00000437849:S89R;ENSP00000256552:S72R	ENSP00000256552:S72R	S	-	1	0	TRPM1	29149591	0.893000	0.30496	1.000000	0.80357	0.996000	0.88848	0.322000	0.19576	1.053000	0.40415	0.533000	0.62120	AGC	TRPM1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251378.1		-	ENST00000397795.2	Missense_Mutation	SNP	15 : 31362299 - 31362299 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2823	541
KIAA1210	57481	broad.mit.edu	37	X	118223067	118223067	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118223067C>A	ENST00000402510.2	-	11	2125	c.2126G>T	c.(2125-2127)aGc>aTc	p.S709I		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	709										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TAAATCAAAGCTGAAAGCTTC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	42	43			NA	NA	X		NA											NA				118223067		1909	4130	6039	SO:0001583	missense			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423	57481	57481			29218	protein-coding gene	gene with protein product					NA	10574462	Standard	NM_020721	NM_020721	NA	Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.2126G>T	X.37:g.118223067C>A	ENSP00000384670:p.Ser709Ile	NA	B7ZCI8|Q5JPN4	37	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.54|14.54	2.565356|2.565356	0.45694|0.45694	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.13657	.|2.57	4.44|4.44	3.57|3.57	0.40892|0.40892	.|.	.|.	.|.	.|.	.|.	T|T	0.16128|0.16128	0.0388|0.0388	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	.|D	.|0.56035	.|0.974	.|P	.|0.50270	.|0.636	T|T	0.07731|0.07731	-1.0757|-1.0757	5|9	.|0.72032	.|D	.|0.01	.|.	8.7899|8.7899	0.34843|0.34843	0.2236:0.7764:0.0:0.0|0.2236:0.7764:0.0:0.0	.|.	.|709	.|Q9ULL0	.|K1210_HUMAN	H|I	115|709	.|ENSP00000384670:S709I	.|ENSP00000384670:S709I	Q|S	-|-	3|2	2|0	KIAA1210|RP13-347D8.6	118107095|118107095	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.029000|0.029000	0.11900|0.11900	-0.033000|-0.033000	0.12246|0.12246	1.205000|1.205000	0.43262|0.43262	0.506000|0.506000	0.49869|0.49869	CAG|AGC	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000371251.2		-	ENST00000402510.2	Missense_Mutation	SNP	X : 118223067 - 118223067 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	186	60
DKK4	27121	broad.mit.edu	37	8	42233345	42233345	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42233345A>G	ENST00000220812.2	-	2	301	c.115T>C	c.(115-117)Tca>Cca	p.S39P		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	39					multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			AGGCACTGTGAGCCCTGTGGA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	61	65			NA	NA	8		NA											NA				42233345		2203	4300	6503	SO:0001583	missense			AF177397	CCDS6130.1	8p11.2-p11.1	2013-05-15	2013-05-15		ENSG00000104371	ENSG00000104371	27121	27121			2894	protein-coding gene	gene with protein product		605417	dickkopf (Xenopus laevis) homolog 4, dickkopf homolog 4 (Xenopus laevis)		NA	10570958, 11701963	Standard		NM_014420	NA	Approved		uc003xpb.3	Q9UBT3	OTTHUMG00000164167	ENST00000220812.2:c.115T>C	8.37:g.42233345A>G	ENSP00000220812:p.Ser39Pro	NA	Q3KNX0|Q9Y4C3	37	CCDS6130.1	.	.	.	.	.	.	.	.	.	.	A	10.91	1.483972	0.26598	.	.	ENSG00000104371	ENST00000543914;ENST00000220812	T	0.32023	1.47	5.03	1.19	0.21007	.	0.143817	0.32430	N	0.006120	T	0.20047	0.0482	L	0.34521	1.04	0.21473	N	0.999677	B	0.06786	0.001	B	0.04013	0.001	T	0.15665	-1.0429	10	0.40728	T	0.16	-7.6035	8.0519	0.30583	0.7474:0.0:0.2526:0.0	.	39	Q9UBT3	DKK4_HUMAN	P	39	ENSP00000220812:S39P	ENSP00000220812:S39P	S	-	1	0	DKK4	42352502	0.596000	0.26866	0.774000	0.31636	0.596000	0.36781	1.928000	0.40104	0.023000	0.15187	0.260000	0.18958	TCA	DKK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377563.1		-	ENST00000220812.2	Missense_Mutation	SNP	8 : 42233345 - 42233345 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	144	29
UBR1	197131	broad.mit.edu	37	15	43351939	43351939	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43351939G>A	ENST00000290650.4	-	8	1024	c.946C>T	c.(946-948)Cgt>Tgt	p.R316C	UBR1_ENST00000382177.2_Missense_Mutation_p.R316C	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	316					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		GAACCAAGACGCAAAGCAAAT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	78	79			NA	NA	15		NA											NA				43351939		2203	4299	6502	SO:0001583	missense				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459	197131	197131		Ubiquitin protein ligase E3 component n-recognins	16808	protein-coding gene	gene with protein product		605981			NA	9653112	Standard	NM_174916	NM_174916	NA	Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.946C>T	15.37:g.43351939G>A	ENSP00000290650:p.Arg316Cys	NA	O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	37	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.505141	0.26949	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	T;T	0.72051	0.19;-0.62	5.27	5.27	0.74061	.	0.051151	0.85682	D	0.000000	T	0.60573	0.2279	L	0.39147	1.195	0.58432	D	0.999999	B;B	0.27450	0.134;0.179	B;B	0.17722	0.016;0.019	T	0.60900	-0.7171	10	0.56958	D	0.05	-24.1461	12.402	0.55418	0.0763:0.0:0.9237:0.0	.	316;316	B4DYL2;Q8IWV7	.;UBR1_HUMAN	C	316	ENSP00000290650:R316C;ENSP00000371612:R316C	ENSP00000290650:R316C	R	-	1	0	UBR1	41139231	1.000000	0.71417	1.000000	0.80357	0.012000	0.07955	5.971000	0.70440	2.746000	0.94184	0.561000	0.74099	CGT	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253202.1		-	ENST00000290650.4	Missense_Mutation	SNP	15 : 43351939 - 43351939 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	346	63
SAP130	79595	broad.mit.edu	37	2	128747250	128747250	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128747250C>T	ENST00000259234.6	-	13	1854	c.1668G>A	c.(1666-1668)caG>caA	p.Q556Q	SAP130_ENST00000357702.5_Silent_p.Q582Q|SAP130_ENST00000259235.3_Silent_p.Q582Q			Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	582					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GTGGTGCAGGCTGTATCCCTG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	119	121			NA	NA	2		NA											NA				128747250		2203	4300	6503	SO:0001819	synonymous_variant			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715	79595	79595			29813	protein-coding gene	gene with protein product		609697	sin3A-associated protein, 130kDa		NA	11230166, 12724404	Standard	NM_024545	NM_001145928	NA	Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259234.6:c.1668G>A	2.37:g.128747250C>T		NA	C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	37																																																																																				SAP130-002	KNOWN	alternative_5_UTR|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000254437.3		-	ENST00000259234.6	Silent	SNP	2 : 128747250 - 128747250 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	526	71
HTR7	3363	broad.mit.edu	37	10	92508676	92508676	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:92508676A>G	ENST00000336152.3	-	2	1241	c.1215T>C	c.(1213-1215)aaT>aaC	p.N405N	HTR7_ENST00000371721.3_Silent_p.N405N|HTR7_ENST00000277874.6_Silent_p.N405N|HTR7_ENST00000371719.2_Silent_p.N405N	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	405					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	TCCGGTTGATATTCCGGTACT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	135	133			NA	NA	10		NA											NA				92508676		2203	4300	6503	SO:0001819	synonymous_variant			BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680	3363	3363		5-HT (serotonin) receptors, GPCR / Class A : 5-HT (serotonin) receptors, GPCR only	5302	protein-coding gene	gene with protein product		182137	5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)		NA	8226867	Standard	NM_000872	NM_000872	NA	Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.1215T>C	10.37:g.92508676A>G		NA	B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02	37	CCDS7408.1																																																																																			HTR7-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049343.1		-	ENST00000336152.3	Silent	SNP	10 : 92508676 - 92508676 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1037	112
OLFM2	93145	broad.mit.edu	37	19	9968460	9968460	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9968460C>A	ENST00000264833.4	-	3	476	c.291G>T	c.(289-291)gaG>gaT	p.E97D	OLFM2_ENST00000590841.1_Missense_Mutation_p.E19D	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	97						extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GCATGAGGGTCTCCATGCCGC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	58	59			NA	NA	19		NA											NA				9968460		2203	4300	6503	SO:0001583	missense			AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088	93145	93145			17189	protein-coding gene	gene with protein product	noelin 2				NA		Standard		NM_058164	NA	Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.291G>T	19.37:g.9968460C>A	ENSP00000264833:p.Glu97Asp	NA	Q6IMJ3|Q96FC2	37	CCDS12221.1	.	.	.	.	.	.	.	.	.	.	c	21.5	4.158524	0.78114	.	.	ENSG00000105088	ENST00000264833	T	0.59224	0.28	3.91	3.91	0.45181	.	0.000000	0.85682	D	0.000000	T	0.69691	0.3139	M	0.73217	2.22	0.46149	D	0.998896	D	0.76494	0.999	D	0.77557	0.99	T	0.70193	-0.4939	9	.	.	.	.	7.3153	0.26498	0.0:0.8816:0.0:0.1184	.	97	O95897	NOE2_HUMAN	D	97	ENSP00000264833:E97D	.	E	-	3	2	OLFM2	9829460	0.747000	0.28283	1.000000	0.80357	0.936000	0.57629	1.459000	0.35234	2.021000	0.59480	0.306000	0.20318	GAG	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451119.1		-	ENST00000264833.4	Missense_Mutation	SNP	19 : 9968460 - 9968460 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	66
PTPRU	10076	broad.mit.edu	37	1	29609239	29609239	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29609239G>T	ENST00000373779.3	+	12	2049	c.1920G>T	c.(1918-1920)gaG>gaT	p.E640D	PTPRU_ENST00000345512.3_Missense_Mutation_p.E640D|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000460170.2_Missense_Mutation_p.E640D|PTPRU_ENST00000323874.8_Missense_Mutation_p.E640D|PTPRU_ENST00000356870.3_Missense_Mutation_p.E640D|PTPRU_ENST00000428026.2_Missense_Mutation_p.E640D	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	640	Fibronectin type-III 4.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGCGGCGGGAGCCAGGTGGAC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	51	53			NA	NA	1		NA											NA				29609239		2203	4298	6501	SO:0001583	missense			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656	10076	10076		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing	9683	protein-coding gene	gene with protein product	pi R-PTP-Psi	602454			NA	8700514, 9434160	Standard		NM_133178	NA	Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000373779.3:c.1920G>T	1.37:g.29609239G>T	ENSP00000362884:p.Glu640Asp	NA	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	37	CCDS335.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257525	0.59321	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.33216	1.46;1.48;1.48;1.48;1.42;1.48	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.34483	0.0899	M	0.64404	1.975	0.50467	D	0.999876	B;B;B;B;B	0.28933	0.228;0.228;0.228;0.146;0.146	B;B;B;B;B	0.27262	0.078;0.078;0.078;0.036;0.036	T	0.07443	-1.0772	9	.	.	.	.	18.4228	0.90597	0.0:0.0:1.0:0.0	.	640;640;640;640;640	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	D	640	ENSP00000334941:E640D;ENSP00000362884:E640D;ENSP00000349333:E640D;ENSP00000314987:E640D;ENSP00000392332:E640D;ENSP00000432906:E640D	.	E	+	3	2	PTPRU	29481826	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.259000	0.51515	2.598000	0.87819	0.549000	0.68633	GAG	PTPRU-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000010445.2		+	ENST00000373779.3	Missense_Mutation	SNP	1 : 29609239 - 29609239 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	45
ACER1	125981	broad.mit.edu	37	19	6309846	6309846	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6309846C>A	ENST00000301452.4	-	4	428		c.e4-1			NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	NA						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GAACTGGGACCTGGGGAGGAA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	64	71			NA	NA	19		NA											NA				6309846		2203	4300	6503	SO:0001630	splice_region_variant			AF347024	CCDS12161.1	19p13.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000167769	ENSG00000167769	125981	125981	3.5.1.23	Alkaline ceramidase	18356	protein-coding gene	gene with protein product		613491	N-acylsphingosine amidohydrolase (alkaline ceramidase) 3	ASAH3	NA	12783875	Standard	NM_133492	NM_133492	NA	Approved		uc002mel.2	Q8TDN7		ENST00000301452.4:c.351-1G>T	19.37:g.6309846C>A		NA		37	CCDS12161.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.641999	0.47153	.	.	ENSG00000167769	ENST00000301452	.	.	.	4.28	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2007	0.65703	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACER1	6260846	1.000000	0.71417	0.152000	0.22495	0.017000	0.09413	6.473000	0.73572	1.947000	0.56498	0.542000	0.68232	.	ACER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452982.1	Intron	-	ENST00000301452.4	Splice_Site	SNP	19 : 6309846 - 6309846 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	255	51
MDN1	23195	broad.mit.edu	37	6	90504402	90504402	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90504402C>A	ENST00000369393.3	-	3	563	c.448G>T	c.(448-450)Gaa>Taa	p.E150*	MDN1_ENST00000428876.1_Nonsense_Mutation_p.E150*			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	150					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAGGCTGCTTCCATTAGGTCC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	105	113			NA	NA	6		NA											NA				90504402		2203	4300	6503	SO:0001587	stop_gained			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159	23195	23195			18302	protein-coding gene	gene with protein product					NA	9205841, 12102729	Standard		XM_005248699	NA	Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.448G>T	6.37:g.90504402C>A	ENSP00000358400:p.Glu150*	NA	O15019|Q5T794	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	37	6.500931	0.97616	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	.	.	.	5.23	5.23	0.72850	.	0.061948	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	19.172	0.93581	0.0:1.0:0.0:0.0	.	.	.	.	X	150	.	ENSP00000358400:E150X	E	-	1	0	MDN1	90561123	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.776000	0.85560	2.614000	0.88457	0.557000	0.71058	GAA	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041514.2		-	ENST00000369393.3	Nonsense_Mutation	SNP	6 : 90504402 - 90504402 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	360	75
PHLDB1	23187	broad.mit.edu	37	11	118502965	118502965	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118502965G>T	ENST00000361417.2	+	10	2742	c.2331G>T	c.(2329-2331)caG>caT	p.Q777H	PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Missense_Mutation_p.Q777H	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	777										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ATCAGCTGCAGGAGAAGCTGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	77	81			NA	NA	11		NA											NA				118502965		2200	4295	6495	SO:0001583	missense				CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144	23187	23187		Pleckstrin homology (PH) domain containing	23697	protein-coding gene	gene with protein product		612834			NA	14532993	Standard	NM_015157	NM_015157	NA	Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.2331G>T	11.37:g.118502965G>T	ENSP00000354498:p.Gln777His	NA	B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	37	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557486	0.65425	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000358191;ENST00000356063	T;T	0.32515	1.45;1.45	5.15	4.24	0.50183	.	0.113485	0.64402	D	0.000008	T	0.45538	0.1347	L	0.42686	1.345	0.80722	D	1	D;D;D;B	0.76494	0.984;0.999;0.995;0.267	P;D;D;B	0.70935	0.73;0.971;0.919;0.086	T	0.32214	-0.9915	10	0.42905	T	0.14	-32.3819	13.8592	0.63550	0.0736:0.0:0.9264:0.0	.	521;777;777;777	Q5W9G0;Q86UU1-3;Q86UU1-2;Q86UU1	.;.;.;PHLB1_HUMAN	H	777;536;99;777	ENSP00000354498:Q777H;ENSP00000348359:Q777H	ENSP00000348359:Q777H	Q	+	3	2	PHLDB1	118008175	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.264000	0.65513	1.182000	0.42928	-0.254000	0.11334	CAG	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389279.1		+	ENST00000361417.2	Missense_Mutation	SNP	11 : 118502965 - 118502965 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	334	55
GCKR	2646	broad.mit.edu	37	2	27730853	27730853	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27730853C>G	ENST00000264717.2	+	15	1313	c.1250C>G	c.(1249-1251)aCg>aGg	p.T417R	GCKR_ENST00000424318.2_Missense_Mutation_p.T227R	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	417	SIS 2.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					GACAACCTCACGGAGGTGCAG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	61	63			NA	NA	2		NA											NA				27730853		2203	4300	6503	SO:0001583	missense			Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734	2646	2646			4196	protein-coding gene	gene with protein product		600842	glucokinase (hexokinase 4) regulatory protein		NA	9570959, 8662230	Standard	NM_001486	NM_001486	NA	Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.1250C>G	2.37:g.27730853C>G	ENSP00000264717:p.Thr417Arg	NA	A1L4C2|Q53RY6|Q99522	37	CCDS1757.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.050|0.050	-1.253246|-1.253246	0.01457|0.01457	.|.	.|.	ENSG00000084734|ENSG00000084734	ENST00000411584|ENST00000264717;ENST00000424318	.|D;D	.|0.83163	.|-1.69;-1.69	4.22|4.22	-5.34|-5.34	0.02705|0.02705	.|Sugar isomerase (SIS) (1);	.|1.403430	.|0.04249	.|N	.|0.338374	T|T	0.67477|0.67477	0.2897|0.2897	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.15141	.|0.01;0.012;0.01	.|B;B;B	.|0.15870	.|0.006;0.014;0.01	T|T	0.51450|0.51450	-0.8704|-0.8704	5|10	.|0.25106	.|T	.|0.35	0.8822|0.8822	4.6676|4.6676	0.12673|0.12673	0.2519:0.2608:0.0:0.4873|0.2519:0.2608:0.0:0.4873	.|.	.|227;415;417	.|F5H1P6;A8K731;Q14397	.|.;.;GCKR_HUMAN	G|R	118|417;227	.|ENSP00000264717:T417R;ENSP00000409109:T227R	.|ENSP00000264717:T417R	R|T	+|+	1|2	2|0	GCKR|GCKR	27584357|27584357	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.123000|0.123000	0.20343|0.20343	-1.289000|-1.289000	0.02780|0.02780	-1.548000|-1.548000	0.01712|0.01712	-1.648000|-1.648000	0.00760|0.00760	CGG|ACG	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250214.1		+	ENST00000264717.2	Missense_Mutation	SNP	2 : 27730853 - 27730853 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	212	31
TAP2	6891	broad.mit.edu	37	6	32800519	32800519	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32800519C>T	ENST00000452392.2	-	6	1201	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	TAP2_ENST00000374899.4_Missense_Mutation_p.R343H|TAP2_ENST00000374897.2_Missense_Mutation_p.R343H			Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	343	ABC transmembrane type-1.|Involved in peptide-binding site.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				NA						CCCAAAACTGCGAACGGTCTG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG,HIS/ARG	1,3019		0,1,1509	101	91	95		1028,1028	5.1	1	6		95	0,5418		0,0,2709	no	missense,missense	TAP2	NM_000544.3,NM_018833.2	29,29	0,1,4218	TT,TC,CC	NA	0.0,0.0331,0.0119	probably-damaging,probably-damaging	343/704,343/654	32800519	1,8437	1510	2709	4219	SO:0001583	missense			M74447	CCDS4755.1	6p21.3	2014-09-17			ENSG00000204267	ENSG00000204267	6891	6891		ATP binding cassette transporters / subfamily B	44	protein-coding gene	gene with protein product		170261		ABCB3	NA	1529427, 1946428, 16395595	Standard	NM_000544	NM_001290043	NA	Approved	PSF2, RING11, D6S217E	uc003ocd.3	Q03519	OTTHUMG00000031068	ENST00000452392.2:c.1028G>A	6.37:g.32800519C>T	ENSP00000391806:p.Arg343His	NA	B0V2J8|O95410|Q9UQ83	37		.	.	.	.	.	.	.	.	.	.	C	16.83	3.229945	0.58777	3.31E-4	0.0	ENSG00000204267;ENSG00000204267;ENSG00000204267;ENSG00000250264	ENST00000556934;ENST00000374899;ENST00000374897;ENST00000452392	D;D;D	0.82711	-1.64;-1.64;-1.64	5.05	5.05	0.67936	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.219605	0.32204	N	0.006436	D	0.92489	0.7615	M	0.93507	3.425	0.39843	D	0.973139	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.994;0.986;0.986;0.986	D	0.93931	0.7214	9	0.87932	D	0	-13.3852	15.9458	0.79792	0.0:1.0:0.0:0.0	.	343;344;343;343	E7ENX8;Q59H06;Q03519;Q9UP03	.;.;TAP2_HUMAN;.	H	343	ENSP00000364034:R343H;ENSP00000364032:R343H;ENSP00000391806:R343H	ENSP00000364032:R343H	R	-	2	0	XXbac-BPG246D15.9;TAP2	32908497	0.997000	0.39634	1.000000	0.80357	0.131000	0.20780	2.933000	0.48948	2.619000	0.88677	0.549000	0.68633	CGC	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000361828.1		-	ENST00000452392.2	Missense_Mutation	SNP	6 : 32800519 - 32800519 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	480	16
LPAR5	57121	broad.mit.edu	37	12	6730346	6730346	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6730346G>A	ENST00000329858.4	-	2	825	c.69C>T	c.(67-69)cgC>cgT	p.R23R	LPAR5_ENST00000540335.1_5'UTR|LPAR5_ENST00000431922.1_Silent_p.R23R	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	23						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						CCAAGTGCAGGCGGTGGGTAG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(74;891 2312 37538)							NA				0													122	104	110			NA	NA	12		NA											NA				6730346		2203	4300	6503	SO:0001819	synonymous_variant			AJ272207	CCDS8553.1	12p13.31	2012-08-08	2008-04-11	2008-04-11		ENSG00000184574	57121	57121		GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid	13307	protein-coding gene	gene with protein product		606926	G protein-coupled receptor 92	GPR93, GPR92	NA	11062477, 11574155, 16774927, 16651401	Standard	NM_020400	NM_020400	NA	Approved	KPG_010, LPA5	uc009zer.2	Q9H1C0		ENST00000329858.4:c.69C>T	12.37:g.6730346G>A		NA		37	CCDS8553.1																																																																																			LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400699.1		-	ENST00000329858.4	Silent	SNP	12 : 6730346 - 6730346 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	108	17
KANK2	25959	broad.mit.edu	37	19	11303618	11303618	+	Missense_Mutation	SNP	G	G	A	rs144821191	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11303618G>A	ENST00000432929.2	-	4	1498	c.1138C>T	c.(1138-1140)Cgc>Tgc	p.R380C	KANK2_ENST00000589359.1_Missense_Mutation_p.R380C|KANK2_ENST00000589894.1_Missense_Mutation_p.R380C|KANK2_ENST00000355150.5_Missense_Mutation_p.R380C|KANK2_ENST00000586659.1_Missense_Mutation_p.R380C	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	380										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCCTGGCTGCGGAACACAGGT	0.642		NA											G	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.9547	EXOME	NA	NA	6e-04	SNP								NA				0								G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	70	74	72		1138,1138	0.2	1	19	dbSNP_134	72	10,8590	7.7+/-29.5	0,10,4290	yes	missense,missense	KANK2	NM_001136191.2,NM_015493.6	180,180	0,11,6492	AA,AG,GG	NA	0.1163,0.0227,0.0846	benign,benign	380/852,380/860	11303618	11,12995	2203	4300	6503	SO:0001583	missense			AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256	25959	25959		KN motif and ankyrin repeat domain containing, Ankyrin repeat domain containing	29300	protein-coding gene	gene with protein product		614610	matrix-remodelling associated 3, ankyrin repeat domain 25	MXRA3, ANKRD25	NA	10819331, 17996375, 19554261	Standard	NM_015493	NM_015493	NA	Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000432929.2:c.1138C>T	19.37:g.11303618G>A	ENSP00000395650:p.Arg380Cys	NA	B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	37	CCDS54219.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	6.976	0.550018	0.13374	2.27E-4	0.001163	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.37235	1.21;1.21	4.11	0.147	0.14838	.	0.085848	0.43747	D	0.000540	T	0.24774	0.0601	L	0.45581	1.43	0.33354	D	0.571462	B;B;B	0.13145	0.001;0.001;0.007	B;B;B	0.06405	0.002;0.0;0.002	T	0.10474	-1.0628	10	0.37606	T	0.19	-34.2083	5.155	0.15031	0.305:0.0:0.546:0.149	.	380;380;380	Q63ZY3-3;Q63ZY3;Q63ZY3-2	.;KANK2_HUMAN;.	C	380	ENSP00000395650:R380C;ENSP00000347276:R380C	ENSP00000347276:R380C	R	-	1	0	KANK2	11164618	0.023000	0.18921	0.998000	0.56505	0.366000	0.29705	0.248000	0.18198	0.224000	0.20940	-0.448000	0.05591	CGC	KANK2-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453143.1		-	ENST00000432929.2	Missense_Mutation	SNP	19 : 11303618 - 11303618 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	432	79
SLC9C2	284525	broad.mit.edu	37	1	173486780	173486780	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173486780C>A	ENST00000367714.3	-	23	3225	c.2803G>T	c.(2803-2805)Gac>Tac	p.D935Y	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	935					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity				NA						GTAAACATGTCTCTGGACCCT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	146	144			NA	NA	1		NA											NA				173486780		2203	4300	6503	SO:0001583	missense			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753	284525	284525		Solute carriers	28664	protein-coding gene	gene with protein product			solute carrier family 9, isoform 11, solute carrier family 9, member 11, solute carrier family 9, member C2	SLC9A11	NA		Standard	NM_178527	NM_178527	NA	Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.2803G>T	1.37:g.173486780C>A	ENSP00000356687:p.Asp935Tyr	NA	Q86UF3	37	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	C	6.613	0.481434	0.12581	.	.	ENSG00000162753	ENST00000367714	T	0.42900	0.96	5.01	-0.188	0.13264	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.904798	0.09292	N	0.822125	T	0.05181	0.0138	N	0.08118	0	0.09310	N	1	B	0.22146	0.065	B	0.23716	0.048	T	0.37731	-0.9693	10	0.13470	T	0.59	-0.845	1.3934	0.02255	0.1504:0.1369:0.1556:0.5571	.	935	Q5TAH2	S9A11_HUMAN	Y	935	ENSP00000356687:D935Y	ENSP00000356687:D935Y	D	-	1	0	SLC9A11	171753403	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.171000	0.09883	-0.225000	0.09913	-0.882000	0.02950	GAC	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084205.1		-	ENST00000367714.3	Missense_Mutation	SNP	1 : 173486780 - 173486780 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	709	63
ADCY3	109	broad.mit.edu	37	2	25042959	25042959	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25042959G>T	ENST00000405392.1	-	19	2217	c.2038C>A	c.(2038-2040)Ctc>Atc	p.L680I	CENPO_ENST00000380834.2_3'UTR|ADCY3_ENST00000260600.5_Missense_Mutation_p.L1093I|CENPO_ENST00000473706.1_3'UTR			O60266	ADCY3_HUMAN	adenylate cyclase 3	1093					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TACTCTCGGAGGATGACTTGG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	46	48			NA	NA	2		NA											NA				25042959		2203	4300	6503	SO:0001583	missense			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	109	109	4.6.1.1	Adenylate cyclases	234	protein-coding gene	gene with protein product		600291			NA	9920776	Standard		NM_004036	NA	Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000405392.1:c.2038C>A	2.37:g.25042959G>T	ENSP00000384484:p.Leu680Ile	NA	Q53T54|Q9UDB1	37		.	.	.	.	.	.	.	.	.	.	G	28.6	4.935156	0.92458	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879	D;D	0.86097	-2.07;-2.07	5.68	5.68	0.88126	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.85682	D	0.000000	D	0.91418	0.7292	L	0.59436	1.845	0.52501	D	0.999958	D;D;P	0.76494	0.984;0.999;0.546	D;D;P	0.97110	0.981;1.0;0.803	D	0.90900	0.4768	10	0.56958	D	0.05	.	19.7417	0.96234	0.0:0.0:1.0:0.0	.	1094;1093;680	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	I	1093;680;1068	ENSP00000260600:L1093I;ENSP00000384484:L680I	ENSP00000260600:L1093I	L	-	1	0	ADCY3	24896463	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.526000	0.81920	2.838000	0.97847	0.655000	0.94253	CTC	ADCY3-201	KNOWN	basic|exp_conf	protein_coding	NA	protein_coding			-	ENST00000405392.1	Missense_Mutation	SNP	2 : 25042959 - 25042959 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	285	65
EPB41L1	2036	broad.mit.edu	37	20	34778662	34778662	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34778662C>T	ENST00000338074.2	+	11	1404	c.1243C>T	c.(1243-1245)Ccc>Tcc	p.P415S	EPB41L1_ENST00000441639.1_Missense_Mutation_p.P353S|EPB41L1_ENST00000373946.3_Missense_Mutation_p.P384S|EPB41L1_ENST00000202028.5_Missense_Mutation_p.P353S|EPB41L1_ENST00000373950.2_Missense_Mutation_p.P318S|EPB41L1_ENST00000373941.1_Missense_Mutation_p.P415S	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	415					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CCGGCCTGCACCCTTCTTTGA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	51	53			NA	NA	20		NA											NA				34778662		2203	4300	6503	SO:0001583	missense			AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367	2036	2036			3378	protein-coding gene	gene with protein product		602879			NA	9570967, 9828140	Standard	NM_012156	NM_012156	NA	Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1243C>T	20.37:g.34778662C>T	ENSP00000337168:p.Pro415Ser	NA	O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	37	CCDS13271.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008744	0.93346	.	.	ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000338074;ENST00000373941	D;D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	5.18	5.18	0.71444	FERM adjacent (FA) (1);	.	.	.	.	D	0.94833	0.8331	M	0.83483	2.645	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.998;0.998;0.998;0.988	D	0.95367	0.8461	9	0.87932	D	0	.	17.6293	0.88102	0.0:1.0:0.0:0.0	.	415;415;384;318;318;353	B7Z653;Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;E41L1_HUMAN;.;.;.;.	S	353;318;415;318;353;384;415;415	ENSP00000202028:P353S;ENSP00000363061:P318S;ENSP00000399214:P353S;ENSP00000363057:P384S;ENSP00000337168:P415S;ENSP00000363052:P415S	ENSP00000202028:P353S	P	+	1	0	EPB41L1	34242076	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	7.776000	0.85560	2.556000	0.86216	0.561000	0.74099	CCC	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078978.3		+	ENST00000338074.2	Missense_Mutation	SNP	20 : 34778662 - 34778662 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	244	25
TAF4	6874	broad.mit.edu	37	20	60581569	60581569	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60581569C>T	ENST00000252996.4	-	7	2219	c.2220G>A	c.(2218-2220)ccG>ccA	p.P740P		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	NA					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TCCATACCAGCGGTGTGGGTT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	15	15			NA	NA	20		NA											NA				60581569		2168	4249	6417	SO:0001819	synonymous_variant			Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699	6874	6874			11537	protein-coding gene	gene with protein product		601796	TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD	TAF4A, TAF2C1, TAF2C	NA	8942982, 9192867	Standard	NM_003185	NM_003185	NA	Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2220G>A	20.37:g.60581569C>T		NA	A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	37	CCDS33500.1																																																																																			TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079968.2		-	ENST00000252996.4	Silent	SNP	20 : 60581569 - 60581569 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	96	10
PIGW	284098	broad.mit.edu	37	17	34893890	34893890	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34893890G>A	ENST00000592983.1	+	2	1520	c.940G>A	c.(940-942)Gca>Aca	p.A314T	PIGW_ENST00000328396.2_Missense_Mutation_p.A314T|MYO19_ENST00000590081.1_Intron			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	314					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGGTATGTGGCAATACACAT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	80	82			NA	NA	17		NA											NA				34893890		2203	4300	6503	SO:0001583	missense			AB097818	CCDS11313.1	17q21.1	2014-05-06	2006-06-28		ENSG00000184886	ENSG00000277161	284098	284098		Phosphatidylinositol glycan anchor biosynthesis	23213	protein-coding gene	gene with protein product		610275	phosphatidylinositol glycan, class W		NA	14517336, 12714589	Standard	NM_178517	XM_005257238	NA	Approved	Gwt1, FLJ37433	uc002hmz.1	Q7Z7B1	OTTHUMG00000188438	ENST00000592983.1:c.940G>A	17.37:g.34893890G>A	ENSP00000468778:p.Ala314Thr	NA	Q8N9G3	37	CCDS11313.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.794035	0.50102	.	.	ENSG00000184886	ENST00000328396	.	.	.	5.18	2.9	0.33743	.	0.055454	0.64402	N	0.000001	T	0.63070	0.2480	M	0.69358	2.11	0.58432	D	0.999999	B	0.29162	0.235	B	0.39068	0.289	T	0.57388	-0.7820	8	.	.	.	-1.7743	11.1881	0.48669	0.1645:0.0:0.8355:0.0	.	314	Q7Z7B1	PIGW_HUMAN	T	314	.	.	A	+	1	0	PIGW	31968003	1.000000	0.71417	0.942000	0.38095	0.985000	0.73830	4.335000	0.59298	0.533000	0.28675	0.561000	0.74099	GCA	PIGW-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451318.1		+	ENST00000592983.1	Missense_Mutation	SNP	17 : 34893890 - 34893890 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	20
PEG3	5178	broad.mit.edu	37	19	57328690	57328690	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57328690C>T	ENST00000326441.9	-	10	1483	c.1120G>A	c.(1120-1122)Ggc>Agc	p.G374S	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G374S|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G250S|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G248S|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	374					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AACCTAAAGCCTCCCCTAAAT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	89	88			NA	NA	19		NA											NA				57328690		2203	4300	6503	SO:0001583	missense			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300	5178	5178		Zinc fingers, C2H2-type, -, -, -	8826	protein-coding gene	gene with protein product		601483			NA	9149948	Standard		NM_006210	NA	Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1120G>A	19.37:g.57328690C>T	ENSP00000326581:p.Gly374Ser	NA	P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.013665	0.35511	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.02258	4.37;4.37	4.25	3.23	0.37069	.	0.309838	0.23567	N	0.046799	T	0.01661	0.0053	N	0.20986	0.625	.	.	.	B;B;B	0.33528	0.416;0.416;0.379	B;B;B	0.28638	0.092;0.092;0.07	T	0.46400	-0.9194	9	0.17369	T	0.5	-28.0444	10.2656	0.43453	0.0:0.9022:0.0:0.0977	.	250;374;309	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	S	374;374;344	ENSP00000326581:G374S;ENSP00000403051:G374S	ENSP00000292074:G344S	G	-	1	0	ZIM2	62020502	0.000000	0.05858	0.137000	0.22149	0.844000	0.47949	0.255000	0.18333	1.389000	0.46526	0.655000	0.94253	GGC	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416099.2		-	ENST00000326441.9	Missense_Mutation	SNP	19 : 57328690 - 57328690 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	728	125
PRPF3	9129	broad.mit.edu	37	1	150312898	150312898	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150312898A>C	ENST00000324862.6	+	9	1392	c.1227A>C	c.(1225-1227)gaA>gaC	p.E409D	PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.E360D|PRPF3_ENST00000543398.1_Silent_p.R273R	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	409					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CCAAGAGAGAAGATTATTTTG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(168;1070 2670 5178 20729)							NA				0													80	75	77			NA	NA	1		NA											NA				150312898		2203	4300	6503	SO:0001583	missense			AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360	9129	9129			17348	protein-coding gene	gene with protein product		607301	retinitis pigmentosa 18 (autosomal dominant), PRP3 pre-mRNA processing factor 3 homolog (yeast), PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)	RP18	NA		Standard	NM_004698	NM_004698	NA	Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.1227A>C	1.37:g.150312898A>C	ENSP00000315379:p.Glu409Asp	NA	O43446|Q5VT54	37	CCDS951.1	.	.	.	.	.	.	.	.	.	.	A	10.65	1.411230	0.25465	.	.	ENSG00000117360	ENST00000324862;ENST00000414970	D;D	0.85411	-1.98;-1.98	5.67	3.4	0.38934	Pre-mRNA-splicing factor 3 (1);	0.097540	0.64402	D	0.000001	T	0.62024	0.2394	L	0.34521	1.04	0.80722	D	1	B;B	0.15719	0.014;0.005	B;B	0.20184	0.028;0.016	T	0.61628	-0.7024	10	0.30078	T	0.28	-16.2751	5.3519	0.16040	0.7292:0.0:0.1264:0.1444	.	360;409	E7EVD1;O43395	.;PRPF3_HUMAN	D	409;360	ENSP00000315379:E409D;ENSP00000387844:E360D	ENSP00000315379:E409D	E	+	3	2	PRPF3	148579522	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.714000	0.25808	2.164000	0.68074	0.454000	0.30748	GAA	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000035836.1		+	ENST00000324862.6	Missense_Mutation	SNP	1 : 150312898 - 150312898 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	51
CBWD6	644019	broad.mit.edu	37	9	69238239	69238239	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:69238239G>A	ENST00000377457.5	-	8	758	c.653C>T	c.(652-654)aCg>aTg	p.T218M	CBWD6_ENST00000382399.4_Missense_Mutation_p.T198M|CBWD6_ENST00000377449.1_Missense_Mutation_p.T182M	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6	218							ATP binding			lung(4)	4						CCTAAGTGTCGTTCTTAATTT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/THR	1,2703		0,1,1351	120	163	147		653	0.3	0	9		147	8,4634		0,8,2313	yes	missense	CBWD6	NM_001085457.1	81	0,9,3664	AA,AG,GG	NA	0.1723,0.037,0.1225	benign	218/396	69238239	9,7337	1352	2321	3673	SO:0001583	missense				CCDS43827.1	9q13	2006-06-30			ENSG00000204790	ENSG00000204790	644019	644019			31978	protein-coding gene	gene with protein product					NA		Standard	XM_928822	NM_001085457	NA	Approved	OTTHUMG00000066820	uc004afj.4	Q4V339	OTTHUMG00000066820	ENST00000377457.5:c.653C>T	9.37:g.69238239G>A	ENSP00000366677:p.Thr218Met	NA		37	CCDS43827.1	.	.	.	.	.	.	.	.	.	.	.	5.019	0.189171	0.09547	3.7E-4	0.001723	ENSG00000204790	ENST00000377457;ENST00000377449;ENST00000382399;ENST00000377445	T;T;T	0.42900	0.96;0.96;0.96	2.35	0.321	0.15883	Cobalamin (vitamin B12) biosynthesis CobW-like (1);	0.752267	0.13009	N	0.421042	T	0.32466	0.0830	L	0.47190	1.495	0.09310	N	1	B	0.16603	0.018	B	0.15870	0.014	T	0.23619	-1.0183	10	0.46703	T	0.11	-14.1278	7.2111	0.25935	0.2597:0.0:0.7403:0.0	.	218	Q4V339	CBWD6_HUMAN	M	218;182;198;218	ENSP00000366677:T218M;ENSP00000366668:T182M;ENSP00000371836:T198M	ENSP00000366664:T218M	T	-	2	0	CBWD6	68528059	0.086000	0.21541	0.040000	0.18447	0.263000	0.26337	0.873000	0.28052	-0.123000	0.11745	-1.109000	0.02080	ACG	CBWD6-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000143172.2		-	ENST00000377457.5	Missense_Mutation	SNP	9 : 69238239 - 69238239 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	469	14
RNF20	56254	broad.mit.edu	37	9	104303164	104303164	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104303164G>A	ENST00000389120.3	+	5	625	c.535G>A	c.(535-537)Gag>Aag	p.E179K		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	179					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		GGAACGTGTGGAGTCTTCCCG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	73	71			NA	NA	9		NA											NA				104303164		2203	4300	6503	SO:0001583	missense			AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827	56254	56254		RING-type (C3HC4) zinc fingers	10062	protein-coding gene	gene with protein product	BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)	607699	ring finger protein 20		NA	16337599, 12876294, 18832071, 19037095	Standard	NM_019592	NM_019592	NA	Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.535G>A	9.37:g.104303164G>A	ENSP00000373772:p.Glu179Lys	NA	A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	37	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852273	0.71719	.	.	ENSG00000155827	ENST00000389120;ENST00000374819	T	0.79247	-1.25	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	D	0.86310	0.5902	M	0.68593	2.085	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	D	0.87856	0.2661	10	0.66056	D	0.02	-18.7071	17.0518	0.86521	0.0:0.0:1.0:0.0	.	179	Q5VTR2	BRE1A_HUMAN	K	179	ENSP00000373772:E179K	ENSP00000363952:E179K	E	+	1	0	RNF20	103342985	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	7.540000	0.82074	2.439000	0.82584	0.455000	0.32223	GAG	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356402.1		+	ENST00000389120.3	Missense_Mutation	SNP	9 : 104303164 - 104303164 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	491	71
ERC2	26059	broad.mit.edu	37	3	55768825	55768825	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:55768825G>A	ENST00000288221.6	-	15	2941	c.2686C>T	c.(2686-2688)Cga>Tga	p.R896*		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	896						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGTACTAGTCGGTCTTTTTCC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	101	103			NA	NA	3		NA											NA				55768825		1871	4110	5981	SO:0001587	stop_gained			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672	26059	26059			31922	protein-coding gene	gene with protein product					NA		Standard	NM_015576	NM_015576	NA	Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2686C>T	3.37:g.55768825G>A	ENSP00000288221:p.Arg896*	NA	Q2T9F6|Q86TK4	37	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	G	41	8.845178	0.98976	.	.	ENSG00000187672	ENST00000288221	.	.	.	5.67	3.77	0.43336	.	0.063683	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0675	7.1764	0.25747	0.0853:0.0:0.5892:0.3255	.	.	.	.	X	896	.	ENSP00000288221:R896X	R	-	1	2	ERC2	55743865	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	5.704000	0.68347	1.394000	0.46624	0.655000	0.94253	CGA	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350884.2		-	ENST00000288221.6	Nonsense_Mutation	SNP	3 : 55768825 - 55768825 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	194	23
PCDHGA2	56113	broad.mit.edu	37	5	140720708	140720708	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140720708C>T	ENST00000394576.2	+	1	2170	c.2170C>T	c.(2170-2172)Ctg>Ttg	p.L724L	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1			protocadherin gamma subfamily A, 2	NA								p.L724V(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGTCACGCCTGCTGCAGGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(2)											79	84	82			NA	NA	5		NA											NA				140720708		2203	4300	6503	SO:0001819	synonymous_variant			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853	56113	56113		Cadherins / Protocadherins : Clustered	8700	other	protocadherin		606289			NA	10380929	Standard	NM_018915	NM_018915	NA	Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2170C>T	5.37:g.140720708C>T		NA		37	CCDS47289.1																																																																																			PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374738.1		+	ENST00000394576.2	Silent	SNP	5 : 140720708 - 140720708 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	832	158
PARVB	29780	broad.mit.edu	37	22	44559756	44559756	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44559756G>A	ENST00000404989.1	+	12	954	c.853G>A	c.(853-855)Gcc>Acc	p.A285T	PARVB_ENST00000406477.3_Missense_Mutation_p.A355T|PARVB_ENST00000338758.7_Missense_Mutation_p.A322T	NM_001243385.1	NP_001230314.1	Q9HBI1	PARVB_HUMAN	parvin, beta	322	CH 2.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding	p.A355T(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				TGTGTCCTTCGCCTTTGAGCT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											130	94	107			NA	NA	22		NA											NA				44559756		2203	4300	6503	SO:0001583	missense			AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677	29780	29780		Parvins	14653	protein-coding gene	gene with protein product	affixin	608121			NA	10810093, 11171322	Standard	NM_001003828	NM_001003828	NA	Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000404989.1:c.853G>A	22.37:g.44559756G>A	ENSP00000384353:p.Ala285Thr	NA	B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	37	CCDS58808.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176810	0.78564	.	.	ENSG00000188677	ENST00000406477;ENST00000338758;ENST00000404989	T;T;T	0.71579	-0.58;-0.58;-0.58	5.42	4.41	0.53225	Calponin homology domain (5);	0.050704	0.85682	D	0.000000	D	0.84325	0.5447	M	0.91090	3.175	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	P;D;D;D	0.71870	0.899;0.959;0.975;0.971	D	0.85234	0.1034	10	0.87932	D	0	-0.2485	6.9974	0.24791	0.0882:0.0:0.7402:0.1716	.	322;285;322;355	A6NG58;B0QYM8;Q9HBI1;Q9HBI1-2	.;.;PARVB_HUMAN;.	T	355;322;285	ENSP00000384515:A355T;ENSP00000342492:A322T;ENSP00000384353:A285T	ENSP00000342492:A322T	A	+	1	0	PARVB	42891089	1.000000	0.71417	0.892000	0.35008	0.965000	0.64279	3.890000	0.56220	1.290000	0.44636	0.491000	0.48974	GCC	PARVB-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319519.1		+	ENST00000404989.1	Missense_Mutation	SNP	22 : 44559756 - 44559756 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	443	45
CDH9	1007	broad.mit.edu	37	5	26915978	26915978	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:26915978C>T	ENST00000231021.4	-	3	455	c.283G>A	c.(283-285)Gat>Aat	p.D95N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	95	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CCAGCCCCATCTCCTGTTAGT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(8;187 585 15745 40864 52829)							NA				0													102	104	103			NA	NA	5		NA											NA				26915978		2203	4299	6502	SO:0001583	missense			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100	1007	1007		Cadherins / Major cadherins	1768	protein-coding gene	gene with protein product		609974			NA	2059658	Standard	NM_016279	NM_016279	NA	Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.283G>A	5.37:g.26915978C>T	ENSP00000231021:p.Asp95Asn	NA	Q3B7I5	37	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914844	0.92178	.	.	ENSG00000113100	ENST00000231021;ENST00000513289	T;T	0.60920	0.15;0.67	4.62	4.62	0.57501	Cadherin (4);Cadherin-like (1);	0.101514	0.64402	D	0.000003	T	0.72946	0.3524	M	0.63169	1.94	0.58432	D	0.999994	D;D	0.89917	1.0;0.992	D;P	0.85130	0.997;0.891	T	0.73392	-0.3997	9	.	.	.	.	16.4099	0.83704	0.0:1.0:0.0:0.0	.	95;95	E7EPN0;Q9ULB4	.;CADH9_HUMAN	N	95	ENSP00000231021:D95N;ENSP00000426239:D95N	.	D	-	1	0	CDH9	26951735	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.361000	0.79497	2.275000	0.75901	0.585000	0.79938	GAT	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207352.1		-	ENST00000231021.4	Missense_Mutation	SNP	5 : 26915978 - 26915978 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	707	98
SHROOM3	57619	broad.mit.edu	37	4	77660200	77660200	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77660200C>T	ENST00000296043.6	+	5	1827	c.874C>T	c.(874-876)Cga>Tga	p.R292*		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	292					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TACTTCTGCTCGAGGTGGCCT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	49	49			NA	NA	4		NA											NA				77660200		2203	4300	6503	SO:0001587	stop_gained			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771	57619	57619			30422	protein-coding gene	gene with protein product		604570			NA	10589677, 16615870	Standard	NM_020859	NM_020859	NA	Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.874C>T	4.37:g.77660200C>T	ENSP00000296043:p.Arg292*	NA	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	37	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	C	45	11.398115	0.99556	.	.	ENSG00000138771	ENST00000296043	.	.	.	6.17	6.17	0.99709	.	0.389024	0.24334	N	0.039431	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8083	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	292	.	ENSP00000296043:R292X	R	+	1	2	SHROOM3	77879224	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	2.624000	0.46444	2.941000	0.99782	0.655000	0.94253	CGA	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252408.2		+	ENST00000296043.6	Nonsense_Mutation	SNP	4 : 77660200 - 77660200 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	240	46
CYP46A1	10858	broad.mit.edu	37	14	100187648	100187648	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100187648G>A	ENST00000554176.1	+	6	1260	c.594G>A	c.(592-594)caG>caA	p.Q198Q	CYP46A1_ENST00000423126.2_Silent_p.Q254Q|CYP46A1_ENST00000261835.3_Silent_p.Q351Q			Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	351					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GGAGACTGCAGTACCTGTCCC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4405	2.1+/-5.4	0,1,2202	135	110	119		1053	4.2	1	14		119	0,8600		0,0,4300	no	coding-synonymous	CYP46A1	NM_006668.1		0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077		351/501	100187648	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530	10858	10858		Cytochrome P450s	2641	protein-coding gene	gene with protein product		604087	cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)	CYP46	NA	10377398	Standard		NM_006668	NA	Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000554176.1:c.594G>A	14.37:g.100187648G>A		NA		37		.	.	.	.	.	.	.	.	.	.	G	8.702	0.909957	0.17833	2.27E-4	0.0	ENSG00000036530	ENST00000380228	.	.	.	5.07	4.19	0.49359	.	.	.	.	.	T	0.60418	0.2267	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58031	-0.7708	4	.	.	.	.	10.1049	0.42528	0.0931:0.0:0.9069:0.0	.	.	.	.	I	338	.	.	V	+	1	0	CYP46A1	99257401	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.525000	0.35953	1.296000	0.44742	-0.224000	0.12420	GTA	CYP46A1-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000413816.1		+	ENST00000554176.1	Silent	SNP	14 : 100187648 - 100187648 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	279	48
KIAA1244	57221	broad.mit.edu	37	6	138576683	138576683	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138576683C>T	ENST00000251691.4	+	10	1047	c.881C>T	c.(880-882)gCg>gTg	p.A294V		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	294					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TCGGACTCTGCGTCTCCGGGA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	82	85			NA	NA	6		NA											NA				138576683		2203	4300	6503	SO:0001583	missense			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379	57221	57221		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	21213	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 33		chromosome 6 open reading frame 92	C6orf92	NA		Standard	NM_020340	NM_020340	NA	Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.881C>T	6.37:g.138576683C>T	ENSP00000251691:p.Ala294Val	NA	Q76MU8|Q8N4Y4|Q96CH9|Q96P46|Q9ULH6	37	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	C	5.937	0.356982	0.11239	.	.	ENSG00000112379	ENST00000251691	T	0.18657	2.2	5.57	3.8	0.43715	.	0.540113	0.21282	N	0.077130	T	0.02342	0.0072	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.45877	-0.9231	10	0.13853	T	0.58	-19.3915	5.4561	0.16592	0.1404:0.6416:0.0:0.218	.	294	Q5TH69	BIG3_HUMAN	V	294	ENSP00000251691:A294V	ENSP00000251691:A294V	A	+	2	0	KIAA1244	138618376	0.028000	0.19301	0.022000	0.16811	0.010000	0.07245	2.061000	0.41403	0.726000	0.32339	0.655000	0.94253	GCG	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042425.4		+	ENST00000251691.4	Missense_Mutation	SNP	6 : 138576683 - 138576683 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	414	70
FAM151A	338094	broad.mit.edu	37	1	55075382	55075382	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55075382C>T	ENST00000302250.2	-	8	1477	c.1317G>A	c.(1315-1317)tgG>tgA	p.W439*	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_3'UTR|FAM151A_ENST00000371304.2_Intron|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	439						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CCCACACAGGCCAATGCAAGA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	40	39			NA	NA	1		NA											NA				55075382		2203	4300	6503	SO:0001587	stop_gained			AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391	338094	338094			25032	protein-coding gene	gene with protein product			chromosome 1 open reading frame 179	C1orf179	NA	17273976	Standard	NM_176782	NM_176782	NA	Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.1317G>A	1.37:g.55075382C>T	ENSP00000306888:p.Trp439*	NA	Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	37	CCDS594.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643285	0.67244	.	.	ENSG00000162391	ENST00000302250	.	.	.	4.17	0.174	0.15040	.	0.890365	0.09587	N	0.782015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-5.8283	0.8298	0.01128	0.166:0.3896:0.1617:0.2827	.	.	.	.	X	439	.	ENSP00000306888:W439X	W	-	3	0	FAM151A	54847970	0.018000	0.18449	0.195000	0.23364	0.279000	0.26890	-0.118000	0.10692	0.040000	0.15660	-0.137000	0.14449	TGG	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000027342.1		-	ENST00000302250.2	Nonsense_Mutation	SNP	1 : 55075382 - 55075382 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	301	53
ESPL1	9700	broad.mit.edu	37	12	53680262	53680262	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53680262C>T	ENST00000257934.4	+	18	3833	c.3742C>T	c.(3742-3744)Cag>Tag	p.Q1248*	ESPL1_ENST00000552462.1_Nonsense_Mutation_p.Q1248*	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1248					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GAAGGTTCTACAGTCAGGGCT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(53;1069 1201 2587 5382)							NA				0													105	113	110			NA	NA	12		NA											NA				53680262		2203	4300	6503	SO:0001587	stop_gained			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	9700	9700	3.4.22.49		16856	protein-coding gene	gene with protein product	separin, separase, separin, cysteine protease	604143	extra spindle poles like 1 (S. cerevisiae)		NA	8724849, 16258266	Standard	NM_012291	NM_012291	NA	Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.3742C>T	12.37:g.53680262C>T	ENSP00000257934:p.Gln1248*	NA		37	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	C	38	6.921299	0.97936	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	.	.	.	5.06	3.23	0.37069	.	0.202468	0.50627	D	0.000105	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	12.1702	0.54155	0.0:0.3313:0.6686:0.0	.	.	.	.	X	1248;923;1248	.	ENSP00000257934:Q1248X	Q	+	1	0	ESPL1	51966529	0.963000	0.33076	0.335000	0.25508	0.198000	0.23893	2.103000	0.41806	0.835000	0.34877	-0.228000	0.12330	CAG	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406899.2		+	ENST00000257934.4	Nonsense_Mutation	SNP	12 : 53680262 - 53680262 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	812	148
AMMECR1L	83607	broad.mit.edu	37	2	128627035	128627035	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128627035C>A	ENST00000272647.5	-	6	977	c.717G>T	c.(715-717)aaG>aaT	p.K239N	AMMECR1L_ENST00000393001.1_Missense_Mutation_p.K239N	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	239	AMMECR1.									central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		CACCTTGTTCCTTAGCAACCT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	120	125			NA	NA	2		NA											NA				128627035		2203	4300	6503	SO:0001583	missense				CCDS2152.1	2q21	2012-11-15	2012-11-15		ENSG00000144233	ENSG00000144233	83607	83607			28658	protein-coding gene	gene with protein product			AMME chromosomal region gene 1-like		NA		Standard	NM_031445	NM_001199140	NA	Approved	MGC4268	uc002tpl.3	Q6DCA0	OTTHUMG00000131535	ENST00000272647.5:c.717G>T	2.37:g.128627035C>A	ENSP00000272647:p.Lys239Asn	NA	B4E276	37	CCDS2152.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693364	0.48202	.	.	ENSG00000144233	ENST00000272647;ENST00000393001	.	.	.	5.39	4.52	0.55395	AMMECR1 domain (2);	0.063723	0.64402	D	0.000005	T	0.58018	0.2093	M	0.63843	1.955	0.51233	D	0.999914	B	0.23540	0.087	B	0.28784	0.094	T	0.53486	-0.8432	9	0.22109	T	0.4	-4.9988	11.3608	0.49642	0.0:0.8541:0.0:0.1459	.	239	Q6DCA0	AMERL_HUMAN	N	239	.	ENSP00000272647:K239N	K	-	3	2	AMMECR1L	128343505	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.779000	0.55379	1.422000	0.47177	0.650000	0.86243	AAG	AMMECR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254392.1		-	ENST00000272647.5	Missense_Mutation	SNP	2 : 128627035 - 128627035 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	510	122
TRAPPC9	83696	broad.mit.edu	37	8	141461131	141461131	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141461131C>T	ENST00000389328.4	-	2	650	c.636G>A	c.(634-636)cgG>cgA	p.R212R	TRAPPC9_ENST00000389327.3_Silent_p.R114R|TRAPPC9_ENST00000438773.2_Silent_p.R114R	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	114					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						AGACAAAGAGCCGGGAGTCAT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	64	66			NA	NA	8		NA											NA				141461131		2203	4300	6503	SO:0001819	synonymous_variant			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632	83696	83696		Trafficking protein particle complex	30832	protein-coding gene	gene with protein product	TRAPP 120 kDa subunit, tularik gene 1	611966			NA	11572484	Standard	NM_031466	NM_031466	NA	Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000389328.4:c.636G>A	8.37:g.141461131C>T		NA	Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	37	CCDS34946.1																																																																																			TRAPPC9-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377711.3		-	ENST00000389328.4	Silent	SNP	8 : 141461131 - 141461131 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	378	74
KRTAP13-1	140258	broad.mit.edu	37	21	31768629	31768629	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31768629C>A	ENST00000355459.2	+	1	238	c.225C>A	c.(223-225)ccC>ccA	p.P75P		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	75	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGTCCAGCCCCTGCCAGACCT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	63	62			NA	NA	21		NA											NA				31768629		2203	4300	6503	SO:0001819	synonymous_variant			AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390	140258	140258		Keratin associated proteins	18924	protein-coding gene	gene with protein product		608718			NA	12359730	Standard		NM_181599	NA	Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.225C>A	21.37:g.31768629C>A		NA	Q14D20|Q3LI79	37	CCDS13590.2																																																																																			KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128252.3		+	ENST00000355459.2	Silent	SNP	21 : 31768629 - 31768629 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	342	11
TNS3	64759	broad.mit.edu	37	7	47407968	47407968	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47407968G>A	ENST00000398879.1	-	17	2641	c.2275C>T	c.(2275-2277)Cgg>Tgg	p.R759W	TNS3_ENST00000355730.3_Missense_Mutation_p.R519W|TNS3_ENST00000311160.9_Missense_Mutation_p.R759W			Q68CZ2	TENS3_HUMAN	tensin 3	759						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TCACCTTGCCGCCCGGTGGCC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	107	103			NA	NA	7		NA											NA				47407968		1974	4150	6124	SO:0001583	missense			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205	64759	64759		SH2 domain containing	21616	protein-coding gene	gene with protein product	tumor endothelial marker 6	606825	tensin-like SH2 domain-containing 1	TENS1	NA	11559528	Standard	NM_022748	NM_022748	NA	Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2275C>T	7.37:g.47407968G>A	ENSP00000381854:p.Arg759Trp	NA	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	37	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500644	0.64298	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.94537	-3.02;-3.02;-3.45;-3.16	4.81	-7.87	0.01183	.	1.491510	0.04198	N	0.329518	D	0.89262	0.6665	L	0.29908	0.895	0.09310	N	0.999994	D	0.56968	0.978	P	0.44477	0.451	D	0.84734	0.0747	10	0.54805	T	0.06	-27.1163	8.7967	0.34883	0.0:0.1648:0.3765:0.4587	.	759	Q68CZ2	TENS3_HUMAN	W	759;869;759;519;215;862	ENSP00000312143:R759W;ENSP00000381854:R759W;ENSP00000347968:R519W;ENSP00000414358:R862W	ENSP00000312143:R759W	R	-	1	2	TNS3	47374493	0.000000	0.05858	0.003000	0.11579	0.165000	0.22458	-0.728000	0.04925	-1.169000	0.02772	0.655000	0.94253	CGG	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157253.1		-	ENST00000398879.1	Missense_Mutation	SNP	7 : 47407968 - 47407968 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1190	37
ATP12A	479	broad.mit.edu	37	13	25264557	25264557	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25264557G>T	ENST00000381946.3	+	6	795	c.628G>T	c.(628-630)Gga>Tga	p.G210*	ATP12A_ENST00000218548.6_Nonsense_Mutation_p.G210*			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	210					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GGAGGTCAAAGGAGGAGACCA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(156;1582 1935 18898 22665 26498)							NA				0													97	90	92			NA	NA	13		NA											NA				25264557		2203	4300	6503	SO:0001587	stop_gained			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	479	479	3.6.3.10	ATPases / P-type	13816	protein-coding gene	gene with protein product	ATPase, Na+K+ transporting, alpha-1 polypeptide-like, potassium-transporting ATPase alpha chain 2, proton pump, non-gastric H(+)/K(+) ATPase alpha subunit, sodium/potassium ATPase, alpha polypeptide-like	182360	ATPase, Na+/K+ transporting, alpha polypeptide-like 1	ATP1AL1	NA	8838794, 2842249	Standard	NM_001676	NM_001676	NA	Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.628G>T	13.37:g.25264557G>T	ENSP00000371372:p.Gly210*	NA	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	37	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	38	6.705727	0.97776	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	.	.	.	4.75	3.91	0.45181	.	0.081868	0.51477	D	0.000089	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	10.8938	0.47010	0.0912:0.0:0.9088:0.0	.	.	.	.	X	210	.	ENSP00000218548:G210X	G	+	1	0	ATP12A	24162557	1.000000	0.71417	1.000000	0.80357	0.397000	0.30659	7.595000	0.82710	1.216000	0.43427	-0.150000	0.13652	GGA	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044199.1		+	ENST00000381946.3	Nonsense_Mutation	SNP	13 : 25264557 - 25264557 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	548	82
ADCY10	55811	broad.mit.edu	37	1	167793916	167793916	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167793916C>T	ENST00000367848.1	-	27	4149	c.3652G>A	c.(3652-3654)Gga>Aga	p.G1218R	ADCY10_ENST00000545172.1_Missense_Mutation_p.G1157R|ADCY10_ENST00000367851.4_Missense_Mutation_p.G1310R			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1310					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TCCAGGTGTCCCATTATGAGC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													202	179	187			NA	NA	1		NA											NA				167793916		2203	4300	6503	SO:0001583	missense			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	55811	55811	4.6.1.1	Adenylate cyclases	21285	protein-coding gene	gene with protein product	soluble adenylyl cyclase, Hypercalciuria, absorptive, 2	605205			NA		Standard	NM_018417	XM_006711449	NA	Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367848.1:c.3652G>A	1.37:g.167793916C>T	ENSP00000356822:p.Gly1218Arg	NA	O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	37		.	.	.	.	.	.	.	.	.	.	C	20.7	4.035291	0.75617	.	.	ENSG00000143199	ENST00000545172;ENST00000271426;ENST00000367851;ENST00000367848	T;T;T	0.80824	-1.42;-1.42;-1.42	5.74	5.74	0.90152	.	0.000000	0.56097	D	0.000037	D	0.87180	0.6113	M	0.72894	2.215	0.34910	D	0.747412	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.88288	0.2941	9	0.87932	D	0	-16.6889	15.4404	0.75178	0.0:1.0:0.0:0.0	.	1218;1310	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	R	1157;211;1310;1218	ENSP00000441992:G1157R;ENSP00000356825:G1310R;ENSP00000356822:G1218R	ENSP00000271426:G211R	G	-	1	0	ADCY10	166060540	1.000000	0.71417	0.983000	0.44433	0.556000	0.35491	3.814000	0.55643	2.712000	0.92718	0.650000	0.86243	GGA	ADCY10-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000083664.1		-	ENST00000367848.1	Missense_Mutation	SNP	1 : 167793916 - 167793916 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1078	206
MCMDC2	157777	broad.mit.edu	37	8	67803173	67803173	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67803173C>A	ENST00000422365.2	+	10	1318	c.1147C>A	c.(1147-1149)Cta>Ata	p.L383I	MCMDC2_ENST00000313616.5_Missense_Mutation_p.L383I|MCMDC2_ENST00000396592.3_Missense_Mutation_p.L383I|MCMDC2_ENST00000541540.1_Missense_Mutation_p.L320I	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN	minichromosome maintenance domain containing 2	383					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						TTTTCCCACTCTATCCAGGAA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	108	108			NA	NA	8		NA											NA				67803173		2203	4300	6503	SO:0001583	missense			BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460	157777	157777			26368	protein-coding gene	gene with protein product			chromosome 8 open reading frame 45	C8orf45	NA		Standard	NM_173518	NM_173518	NA	Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.1147C>A	8.37:g.67803173C>A	ENSP00000413632:p.Leu383Ile	NA	B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	37	CCDS6197.2	.	.	.	.	.	.	.	.	.	.	C	9.868	1.198031	0.22037	.	.	ENSG00000178460	ENST00000379356;ENST00000396592;ENST00000422365;ENST00000313616;ENST00000541540	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	4.84	-7.66	0.01277	.	0.375035	0.24899	N	0.034716	T	0.16981	0.0408	L	0.34521	1.04	0.21499	N	0.999668	B;B;B	0.10296	0.003;0.0;0.001	B;B;B	0.10450	0.005;0.002;0.002	T	0.04400	-1.0954	10	0.39692	T	0.17	1.162	3.8609	0.08996	0.1532:0.1386:0.461:0.2472	.	320;383;383	Q4G0Z9-4;Q4G0Z9;B4DXX4	.;CH045_HUMAN;.	I	255;383;383;383;320	ENSP00000379837:L383I;ENSP00000413632:L383I;ENSP00000317234:L383I;ENSP00000445629:L320I	ENSP00000317234:L383I	L	+	1	2	C8orf45	67965727	0.994000	0.37717	0.087000	0.20705	0.724000	0.41520	0.293000	0.19029	-1.208000	0.02634	-1.265000	0.01443	CTA	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347350.1		+	ENST00000422365.2	Missense_Mutation	SNP	8 : 67803173 - 67803173 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	618	99
C2CD5	9847	broad.mit.edu	37	12	22624371	22624371	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:22624371T>G	ENST00000333957.4	-	20	2575	c.2320A>C	c.(2320-2322)Aat>Cat	p.N774H	C2CD5_ENST00000545552.1_Missense_Mutation_p.N787H|C2CD5_ENST00000536386.1_Missense_Mutation_p.N776H|C2CD5_ENST00000542676.1_Missense_Mutation_p.N774H|C2CD5_ENST00000396028.2_Missense_Mutation_p.N765H|C2CD5_ENST00000544930.1_Missense_Mutation_p.N589H|C2CD5_ENST00000446597.1_Missense_Mutation_p.N774H	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5	NA											NA						ACTGTAAAATTTACATGGCAA	0.284		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	70	69			NA	NA	12		NA											NA				22624371		2203	4297	6500	SO:0001583	missense			AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731	9847	9847			29062	protein-coding gene	gene with protein product	138 kDa C2 domain-containing phosphoprotein		KIAA0528	KIAA0528	NA	21907143	Standard	NM_014802	XM_005253538	NA	Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.2320A>C	12.37:g.22624371T>G	ENSP00000334229:p.Asn774His	NA		37	CCDS31758.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.19|18.19	3.568629|3.568629	0.65651|0.65651	.|.	.|.	ENSG00000111731|ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930|ENST00000539615	T;T;T;T;T;T|.	0.66099|.	-0.16;-0.17;-0.19;-0.19;-0.17;-0.19|.	5.53|5.53	3.12|3.12	0.35913|0.35913	.|.	0.178860|.	0.46758|.	D|.	0.000265|.	T|.	0.53610|.	0.1807|.	L|L	0.46157|0.46157	1.445|1.445	0.45464|0.45464	D|D	0.998436|0.998436	D;D;D;D;D|.	0.89917|.	0.998;0.999;0.998;1.0;0.998|.	D;D;D;D;P|.	0.91635|.	0.953;0.949;0.979;0.999;0.896|.	T|.	0.41770|.	-0.9490|.	10|.	0.54805|.	T|.	0.06|.	-19.1171|-19.1171	7.0259|7.0259	0.24940|0.24940	0.1328:0.0726:0.0:0.7945|0.1328:0.0726:0.0:0.7945	.|.	776;774;589;765;774|.	F5H2A1;B4DRN7;F5H3N1;Q86YS7-2;Q86YS7|.	.;.;.;.;K0528_HUMAN|.	H|Y	774;774;776;765;774;787;589|57	ENSP00000334229:N774H;ENSP00000388756:N774H;ENSP00000439392:N776H;ENSP00000379345:N765H;ENSP00000441951:N774H;ENSP00000443204:N787H|.	ENSP00000334229:N774H|.	N|X	-|-	1|3	0|2	KIAA0528|KIAA0528	22515638|22515638	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.998000|0.998000	0.95712|0.95712	5.257000|5.257000	0.65473|0.65473	0.364000|0.364000	0.24374|0.24374	0.533000|0.533000	0.62120|0.62120	AAT|TAA	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402257.1		-	ENST00000333957.4	Missense_Mutation	SNP	12 : 22624371 - 22624371 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	408	77
SERTAD4	56256	broad.mit.edu	37	1	210415304	210415304	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210415304C>A	ENST00000367012.3	+	4	923	c.693C>A	c.(691-693)tcC>tcA	p.S231S	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	231	Ser-rich.						protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		cttcctcttcctctccccctT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	69	71			NA	NA	1		NA											NA				210415304		2203	4300	6503	SO:0001819	synonymous_variant			BC012083	CCDS1494.1	1q32.1-q41	2008-02-05			ENSG00000082497	ENSG00000082497	56256	56256			25236	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_019605	NM_019605	NA	Approved	DJ667H12.2	uc001hhy.3	Q9NUC0	OTTHUMG00000036391	ENST00000367012.3:c.693C>A	1.37:g.210415304C>A		NA	B2RD32	37	CCDS1494.1																																																																																			SERTAD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088577.1		+	ENST00000367012.3	Silent	SNP	1 : 210415304 - 210415304 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	493	119
STAB1	23166	broad.mit.edu	37	3	52556666	52556666	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52556666G>A	ENST00000321725.6	+	61	6782	c.6706G>A	c.(6706-6708)Gtc>Atc	p.V2236I		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2236	Link.				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)		ACAGGGAGCCGTCCTTGCTTC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ILE/VAL	0,4404		0,0,2202	67	71	70		6706	4.9	0.3	3		70	2,8596	2.2+/-6.3	0,2,4297	no	missense	STAB1	NM_015136.2	29	0,2,6499	AA,AG,GG	NA	0.0233,0.0,0.0154	benign	2236/2571	52556666	2,13000	2202	4299	6501	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.6706G>A	3.37:g.52556666G>A	ENSP00000312946:p.Val2236Ile	NA	A7E297|Q8IUH0|Q8IUH1|Q93072	37	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660584	0.47572	0.0	2.33E-4	ENSG00000010327	ENST00000321725	T	0.30714	1.52	5.85	4.93	0.64822	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.903033	0.09601	N	0.780141	T	0.31040	0.0784	L	0.39514	1.22	0.09310	N	1	P;D	0.54772	0.862;0.968	B;P	0.45971	0.176;0.499	T	0.09530	-1.0670	10	0.39692	T	0.17	.	10.4845	0.44713	0.0728:0.1362:0.791:0.0	.	123;2236	B3KSK0;Q9NY15	.;STAB1_HUMAN	I	2236	ENSP00000312946:V2236I	ENSP00000312946:V2236I	V	+	1	0	STAB1	52531706	0.000000	0.05858	0.269000	0.24586	0.376000	0.30014	0.803000	0.27083	2.771000	0.95319	0.561000	0.74099	GTC	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351380.2		+	ENST00000321725.6	Missense_Mutation	SNP	3 : 52556666 - 52556666 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	645	126
SERPINA5	5104	broad.mit.edu	37	14	95054153	95054153	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95054153C>A	ENST00000554866.1	+	2	568	c.454C>A	c.(454-456)Ctg>Atg	p.L152M	SERPINA5_ENST00000329597.7_Missense_Mutation_p.L152M|SERPINA5_ENST00000553780.1_Missense_Mutation_p.L152M|SERPINA5_ENST00000554276.1_Missense_Mutation_p.L152M			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	152					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CATGAAGACGCTGTACCTGGC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	79	84			NA	NA	14		NA											NA				95054153		2203	4300	6503	SO:0001583	missense			M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488	5104	5104		Serine (or cysteine) peptidase inhibitors	8723	protein-coding gene	gene with protein product		601841	serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	PLANH3, PCI	NA	1714450, 8381582, 24172014	Standard	NM_000624	NM_000624	NA	Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.454C>A	14.37:g.95054153C>A	ENSP00000451126:p.Leu152Met	NA	Q07616|Q9UG30	37	CCDS9928.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.308874	0.40895	.	.	ENSG00000188488	ENST00000554220;ENST00000553780;ENST00000554760;ENST00000554866;ENST00000329597;ENST00000556775;ENST00000537685;ENST00000438291;ENST00000554276;ENST00000557598	D;D;D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	3.74	-2.4	0.06583	Serpin domain (3);	0.443348	0.18646	N	0.135143	D	0.84754	0.5542	M	0.65320	2	0.09310	N	1	B;P	0.45212	0.263;0.853	B;P	0.54924	0.258;0.764	T	0.76247	-0.3029	10	0.66056	D	0.02	.	4.7179	0.12904	0.4759:0.2975:0.0:0.2266	.	152;152	G3V5Q9;P05154	.;IPSP_HUMAN	M	152;152;152;152;152;152;4;76;152;152	ENSP00000450484:L152M;ENSP00000450837:L152M;ENSP00000452469:L152M;ENSP00000451126:L152M;ENSP00000333203:L152M;ENSP00000450745:L152M;ENSP00000451610:L152M;ENSP00000450485:L152M	ENSP00000333203:L152M	L	+	1	2	SERPINA5	94123906	0.000000	0.05858	0.042000	0.18584	0.019000	0.09904	-0.517000	0.06275	-0.244000	0.09639	-1.383000	0.01170	CTG	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410726.1		+	ENST00000554866.1	Missense_Mutation	SNP	14 : 95054153 - 95054153 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	50
WFS1	7466	broad.mit.edu	37	4	6302625	6302625	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6302625G>T	ENST00000226760.1	+	8	1273	c.1103G>T	c.(1102-1104)aGc>aTc	p.S368I	WFS1_ENST00000503569.1_Missense_Mutation_p.S368I	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	368					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TTCCAGGACAGCAAGGCCTGG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													268	207	228			NA	NA	4		NA											NA				6302625		2203	4300	6503	SO:0001583	missense			AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501	7466	7466			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38	NA	7987399, 9771706	Standard		NM_006005	NA	Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1103G>T	4.37:g.6302625G>T	ENSP00000226760:p.Ser368Ile	NA	B2R797|D3DVT1|Q8N6I3|Q9UNW6	37	CCDS3386.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.70|16.70	3.195734|3.195734	0.58126|0.58126	.|.	.|.	ENSG00000109501|ENSG00000109501	ENST00000506362|ENST00000503569;ENST00000226760	.|D;D	.|0.90900	.|-2.75;-2.75	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	.|0.149328	.|0.56097	.|D	.|0.000026	D|D	0.92028|0.92028	0.7474|0.7474	M|M	0.62723|0.62723	1.935|1.935	0.49483|0.49483	D|D	0.999797|0.999797	.|P	.|0.43633	.|0.813	.|P	.|0.48840	.|0.592	D|D	0.93101|0.93101	0.6508|0.6508	5|10	.|0.72032	.|D	.|0.01	-32.0773|-32.0773	16.9399|16.9399	0.86215|0.86215	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|368	.|O76024	.|WFS1_HUMAN	S|I	246|368	.|ENSP00000423337:S368I;ENSP00000226760:S368I	.|ENSP00000226760:S368I	A|S	+|+	1|2	0|0	WFS1|WFS1	6353526|6353526	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.765000|0.765000	0.43378|0.43378	7.258000|7.258000	0.78371|0.78371	2.240000|2.240000	0.73641|0.73641	0.556000|0.556000	0.70494|0.70494	GCA|AGC	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206863.1		+	ENST00000226760.1	Missense_Mutation	SNP	4 : 6302625 - 6302625 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	666	108
RBKS	64080	broad.mit.edu	37	2	28050516	28050516	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:28050516G>A	ENST00000302188.3	-	7	1465	c.713C>T	c.(712-714)gCt>gTt	p.A238V	RBKS_ENST00000444339.2_Missense_Mutation_p.A238V	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	238					D-ribose metabolic process		ATP binding|ribokinase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					ACATCCTTCAGCCCCTAAGGT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	110	112			NA	NA	2		NA											NA				28050516		2203	4300	6503	SO:0001583	missense			BC017425	CCDS1762.1	2p23.3	2008-02-05			ENSG00000171174	ENSG00000171174	64080	64080	2.7.1.15		30325	protein-coding gene	gene with protein product		611132			NA	8382990	Standard	NM_022128	NM_022128	NA	Approved	DKFZp686G13268, RBSK	uc002rlo.1	Q9H477	OTTHUMG00000097833	ENST00000302188.3:c.713C>T	2.37:g.28050516G>A	ENSP00000306817:p.Ala238Val	NA	A9UK04	37	CCDS1762.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669094	0.47677	.	.	ENSG00000171174	ENST00000302188;ENST00000444339	T;T	0.77750	-1.12;-1.12	5.73	4.84	0.62591	Carbohydrate/purine kinase (1);	0.385463	0.32015	N	0.006714	T	0.77961	0.4209	M	0.74647	2.275	0.36951	D	0.892843	P;P	0.50272	0.873;0.933	B;B	0.43754	0.189;0.43	T	0.82997	-0.0179	10	0.54805	T	0.06	-4.4051	11.6494	0.51279	0.0:0.1345:0.7256:0.1399	.	238;238	B4DV96;Q9H477	.;RBSK_HUMAN	V	238	ENSP00000306817:A238V;ENSP00000413232:A238V	ENSP00000306817:A238V	A	-	2	0	RBKS	27904020	0.952000	0.32445	0.115000	0.21578	0.683000	0.39861	3.493000	0.53266	1.392000	0.46585	0.491000	0.48974	GCT	RBKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000215118.1		-	ENST00000302188.3	Missense_Mutation	SNP	2 : 28050516 - 28050516 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	466	117
ZNF785	146540	broad.mit.edu	37	16	30594073	30594073	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30594073G>A	ENST00000395216.2	-	3	1185	c.1026C>T	c.(1024-1026)tgC>tgT	p.C342C	AC002310.7_ENST00000486926.1_RNA|AC002310.7_ENST00000492040.1_RNA|ZNF785_ENST00000470110.1_Silent_p.C327C	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						CACACTCCACGCAGGGGAAGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	55	53			NA	NA	16		NA											NA				30594073		2197	4300	6497	SO:0001819	synonymous_variant			BC040642	CCDS10685.1	16p11.2	2013-01-08			ENSG00000197162	ENSG00000197162	146540	146540		Zinc fingers, C2H2-type, -	26496	protein-coding gene	gene with protein product					NA	10493829	Standard	NM_152458	NM_152458	NA	Approved	FLJ32130	uc002dyu.3	A8K8V0	OTTHUMG00000132398	ENST00000395216.2:c.1026C>T	16.37:g.30594073G>A		NA	O75701|Q8IW91|Q8WV14|Q96MN0	37	CCDS10685.1																																																																																			ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255529.2		-	ENST00000395216.2	Silent	SNP	16 : 30594073 - 30594073 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	510	88
IFIT1	3434	broad.mit.edu	37	10	91162578	91162578	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91162578G>A	ENST00000371804.3	+	2	713	c.546G>A	c.(544-546)gcG>gcA	p.A182A	IFIT1_ENST00000546318.1_Silent_p.A151A|LIPA_ENST00000371837.1_Intron	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	182					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						CTGGGTATGCGATCTCTGCCT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	134	133			NA	NA	10		NA											NA				91162578		2203	4300	6503	SO:0001819	synonymous_variant			M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745	3434	3434		Tetratricopeptide (TTC) repeat domain containing	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1	NA	1377167, 3360121	Standard	NM_001548	NM_001548	NA	Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.546G>A	10.37:g.91162578G>A		NA	Q96QM5	37	CCDS31243.1																																																																																			IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049302.1		+	ENST00000371804.3	Silent	SNP	10 : 91162578 - 91162578 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1133	207
NOS3	4846	broad.mit.edu	37	7	150710326	150710326	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150710326G>T	ENST00000297494.3	+	25	3471	c.3114G>T	c.(3112-3114)caG>caT	p.Q1038H	NOS3_ENST00000477227.1_3'UTR|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605938.1_3'UTR|NOS3_ENST00000461406.1_Missense_Mutation_p.Q832H|ATG9B_ENST00000444312.1_3'UTR|ATG9B_ENST00000377974.2_3'UTR	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	1038					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CAGGGCTGCAGCCCACTCCCA	0.672		NA									OREG0018443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	76	75			NA	NA	7		NA											NA				150710326		2203	4300	6503	SO:0001583	missense				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	4846	4846	1.14.13.39		7876	protein-coding gene	gene with protein product	endothelial nitric oxide synthase	163729			NA	1379542	Standard	NM_000603	NM_000603	NA	Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.3114G>T	7.37:g.150710326G>T	ENSP00000297494:p.Gln1038His	1734	A8KA63|B2RCQ1|Q13662|Q14251|Q14434|Q548C1|Q6GSL5|Q9UDC6	37	CCDS5912.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466791	0.43839	.	.	ENSG00000164867	ENST00000297494;ENST00000461406	D;D	0.86562	-2.14;-2.14	4.08	2.05	0.26809	Oxidoreductase FAD/NAD(P)-binding (1);	0.389995	0.22255	N	0.062486	T	0.75939	0.3918	N	0.21142	0.635	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.13407	0.008;0.009	T	0.70296	-0.4911	10	0.54805	T	0.06	-6.9989	6.9468	0.24522	0.1009:0.0:0.7277:0.1715	.	832;1038	E7ESA7;P29474	.;NOS3_HUMAN	H	1038;832	ENSP00000297494:Q1038H;ENSP00000417143:Q832H	ENSP00000297494:Q1038H	Q	+	3	2	NOS3	150341259	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	1.259000	0.32956	1.025000	0.39708	0.484000	0.47621	CAG	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350750.2		+	ENST00000297494.3	Missense_Mutation	SNP	7 : 150710326 - 150710326 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	592	102
GPR98	84059	broad.mit.edu	37	5	90041501	90041501	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:90041501C>T	ENST00000405460.2	+	52	10959	c.10863C>T	c.(10861-10863)ttC>ttT	p.F3621F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3621	Calx-beta 23.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGAATCCTTCAAAGTTCAAC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	83	85			NA	NA	5		NA											NA				90041501		1831	4090	5921	SO:0001819	synonymous_variant			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199	84059	84059		-, GPCR / Class B : Orphans	17416	protein-coding gene	gene with protein product		602851	monogenic, audiogenic seizure susceptibility 1 homolog (mouse)	USH2C, MASS1	NA	10976914, 14740321	Standard	NM_032119	NM_032119	NA	Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.10863C>T	5.37:g.90041501C>T		NA	O75171|Q8TF58|Q9H0X5|Q9UL61	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	9.373	1.071033	0.20147	.	.	ENSG00000164199	ENST00000509621	.	.	.	5.59	4.73	0.59995	.	.	.	.	.	T	0.62708	0.2450	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61004	-0.7150	4	.	.	.	.	11.0436	0.47846	0.0:0.8049:0.0:0.1951	.	.	.	.	L	1187	.	.	S	+	2	0	GPR98	90077257	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.989000	0.40707	1.377000	0.46286	0.563000	0.77884	TCA	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369993.2		+	ENST00000405460.2	Silent	SNP	5 : 90041501 - 90041501 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	217	24
HBB	3043	broad.mit.edu	37	11	5248009	5248009	+	Nonsense_Mutation	SNP	C	C	T	rs63750532		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5248009C>T	ENST00000335295.4	-	2	162	c.113G>A	c.(112-114)tGg>tAg	p.W38*		NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	NA			W -> G (in Howick).|W -> R (in Rothschild; O(2) affinity down).|W -> S (in Hirose; O(2) affinity up).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	CCTCTGGGTCCAAGGGTAGAC	0.522		NA							Sickle Cell Trait					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM950613	HBB	M	rs33991059						87	86	87			NA	NA	11		NA											NA				5248009		2201	4298	6499	SO:0001587	stop_gained	Familial Cancer Database		J00173	CCDS7753.1	11p15.5	2014-05-19			ENSG00000244734	ENSG00000244734	3043	3043			4827	protein-coding gene	gene with protein product		141900			NA	2649166	Standard	NM_000518	NM_000518	NA	Approved	CD113t-C, HBD, beta-globin	uc001mae.1	P68871	OTTHUMG00000066678	ENST00000335295.4:c.113G>A	11.37:g.5248009C>T	ENSP00000333994:p.Trp38*	NA	A4GX73|B2ZUE0|P02023|Q13852|Q14481|Q14510|Q45KT0|Q549N7|Q6FI08|Q6R7N2|Q8IZI1|Q9BX96|Q9UCD6|Q9UCP8|Q9UCP9	37	CCDS7753.1	.	.	.	.	.	.	.	.	.	.	c	37	6.631953	0.97722	.	.	ENSG00000244734	ENST00000335295;ENST00000380315	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8281	17.6123	0.88058	0.0:1.0:0.0:0.0	.	.	.	.	X	38	.	ENSP00000333994:W38X	W	-	2	0	HBB	5204585	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.308000	0.65768	2.812000	0.96745	0.555000	0.69702	TGG	HBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000142977.2		-	ENST00000335295.4	Nonsense_Mutation	SNP	11 : 5248009 - 5248009 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	402	71
SLC24A4	123041	broad.mit.edu	37	14	92790300	92790300	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92790300C>A	ENST00000532405.1	+	1	352	c.126C>A	c.(124-126)agC>agA	p.S42R	SLC24A4_ENST00000351924.5_Missense_Mutation_p.S25R|SLC24A4_ENST00000298877.1_Missense_Mutation_p.S25R|SLC24A4_ENST00000393265.2_Intron|SLC24A4_ENST00000531433.1_Missense_Mutation_p.S42R			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	42						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TCTTCGGCAGCTTGGGTGGGT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(10;315 435 10383 28450 38798)							NA				0													44	44	44			NA	NA	14		NA											NA				92790300		2203	4300	6503	SO:0001583	missense			AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090	123041	123041		Solute carriers	10978	protein-coding gene	gene with protein product		609840			NA		Standard	NM_153646	NM_153646	NA	Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.126C>A	14.37:g.92790300C>A	ENSP00000431840:p.Ser42Arg	NA	B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	37	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	C	10.40	1.340847	0.24339	.	.	ENSG00000140090	ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924	T;T;T;T	0.68181	0.11;0.11;-0.31;-0.31	4.09	2.23	0.28157	.	0.294941	0.36932	N	0.002328	T	0.35799	0.0944	N	0.08118	0	0.22926	N	0.998557	B;B	0.33583	0.418;0.399	B;B	0.30943	0.122;0.065	T	0.17258	-1.0375	10	0.15499	T	0.54	.	4.3481	0.11143	0.0:0.6001:0.1879:0.212	.	42;42	Q8NFF2-3;Q8NFF2	.;NCKX4_HUMAN	R	42;42;25;25	ENSP00000433302:S42R;ENSP00000431840:S42R;ENSP00000298877:S25R;ENSP00000337789:S25R	ENSP00000298877:S25R	S	+	3	2	SLC24A4	91860053	0.999000	0.42202	0.941000	0.38009	0.669000	0.39330	0.380000	0.20602	0.378000	0.24764	0.462000	0.41574	AGC	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395240.1		+	ENST00000532405.1	Missense_Mutation	SNP	14 : 92790300 - 92790300 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	163	27
ATP10B	23120	broad.mit.edu	37	5	160047706	160047706	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:160047706G>A	ENST00000327245.5	-	15	2910	c.2064C>T	c.(2062-2064)ggC>ggT	p.G688G	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	688					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(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAGGATGTCGCCCTGGTCCC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4352		0,0,2176	50	52	51		2064	-10.7	0	5		51	1,8549		0,1,4274	no	coding-synonymous	ATP10B	NM_025153.2		0,1,6450	AA,AG,GG	NA	0.0117,0.0,0.0078		688/1462	160047706	1,12901	2176	4275	6451	SO:0001819	synonymous_variant			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322	23120	23120		ATPases / P-type	13543	protein-coding gene	gene with protein product			ATPase, Class V, type 10B		NA	9872452, 11015572	Standard	NM_025153	NM_025153	NA	Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2064C>T	5.37:g.160047706G>A		NA	Q9H725	37	CCDS43394.1																																																																																			ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374127.1		-	ENST00000327245.5	Silent	SNP	5 : 160047706 - 160047706 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	258	60
EDEM2	55741	broad.mit.edu	37	20	33725733	33725733	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33725733G>A	ENST00000374492.3	-	5	545	c.440C>T	c.(439-441)tCc>tTc	p.S147F	EDEM2_ENST00000540582.1_Missense_Mutation_p.S106F|EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000374491.3_Missense_Mutation_p.S110F|EDEM2_ENST00000541621.1_5'UTR	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	147					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GAGAGGCCCGGAACAGGGCCA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(51;906 1021 24535 36410 39145)							NA				0													86	93	90			NA	NA	20		NA											NA				33725733		2203	4300	6503	SO:0001583	missense			AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298	55741	55741			15877	protein-coding gene	gene with protein product		610302	chromosome 20 open reading frame 31	C20orf49, C20orf31	NA	15537790, 15579471	Standard	NM_018217	NM_018217	NA	Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.440C>T	20.37:g.33725733G>A	ENSP00000363616:p.Ser147Phe	NA	B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	37	CCDS13247.1	.	.	.	.	.	.	.	.	.	.	G	33	5.197311	0.94960	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000540582	T;T;T	0.72615	-0.67;-0.67;-0.67	5.5	5.5	0.81552	.	0.103011	0.64402	D	0.000001	T	0.79713	0.4493	L	0.47716	1.5	0.80722	D	1	P;P;P	0.52316	0.857;0.941;0.952	P;P;P	0.60682	0.613;0.735;0.878	T	0.80341	-0.1423	10	0.87932	D	0	-13.1246	19.5944	0.95530	0.0:0.0:1.0:0.0	.	106;110;147	F5GZ44;Q9BV94-2;Q9BV94	.;.;EDEM2_HUMAN	F	110;147;106	ENSP00000363615:S110F;ENSP00000363616:S147F;ENSP00000441548:S106F	ENSP00000363615:S110F	S	-	2	0	EDEM2	33189394	1.000000	0.71417	0.981000	0.43875	0.913000	0.54294	9.633000	0.98432	2.868000	0.98415	0.555000	0.69702	TCC	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078842.2		-	ENST00000374492.3	Missense_Mutation	SNP	20 : 33725733 - 33725733 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	905	59
PHKB	5257	broad.mit.edu	37	16	47730390	47730390	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47730390C>T	ENST00000299167.8	+	29	3019	c.2994C>T	c.(2992-2994)atC>atT	p.I998I	PHKB_ENST00000455779.1_Silent_p.I991I|PHKB_ENST00000323584.5_Silent_p.I998I|PHKB_ENST00000566044.1_Silent_p.I991I			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	998					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				ACAGACAGATCGTTGTAGAGG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	101	105			NA	NA	16		NA											NA				47730390		2201	4300	6501	SO:0001819	synonymous_variant				CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	5257	5257	2.7.11.19		8927	protein-coding gene	gene with protein product		172490			NA		Standard		NM_000293	NA	Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000299167.8:c.2994C>T	16.37:g.47730390C>T		NA	Q8N4T5	37																																																																																				PHKB-001	KNOWN	alternative_5_UTR|basic	protein_coding	NA	protein_coding	OTTHUMT00000256767.3		+	ENST00000299167.8	Silent	SNP	16 : 47730390 - 47730390 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	307	47
TMEM198	130612	broad.mit.edu	37	2	220412405	220412405	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220412405G>A	ENST00000344458.2	+	4	929	c.344G>A	c.(343-345)aGc>aAc	p.S115N	TMEM198_ENST00000373883.3_Missense_Mutation_p.S115N			Q66K66	TM198_HUMAN	transmembrane protein 198	115	Leu-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTAGTGCGCAGCGTGGGCCTC	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	54	54			NA	NA	2		NA											NA				220412405		2202	4298	6500	SO:0001583	missense			BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760	130612	130612			33704	protein-coding gene	gene with protein product					NA		Standard	NM_001005209	NM_001005209	NA	Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.344G>A	2.37:g.220412405G>A	ENSP00000343507:p.Ser115Asn	NA		37	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743012	0.69418	.	.	ENSG00000188760	ENST00000344458;ENST00000421791;ENST00000373883	.	.	.	4.05	4.05	0.47172	.	0.084192	0.85682	D	0.000000	T	0.74512	0.3726	M	0.79475	2.455	0.43777	D	0.996302	D	0.59767	0.986	P	0.59012	0.85	T	0.73487	-0.3967	9	0.22706	T	0.39	-15.4832	16.3706	0.83357	0.0:0.0:1.0:0.0	.	115	Q66K66	TM198_HUMAN	N	115	.	ENSP00000343507:S115N	S	+	2	0	TMEM198	220120649	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.496000	0.81526	2.253000	0.74438	0.591000	0.81541	AGC	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131063.1		+	ENST00000344458.2	Missense_Mutation	SNP	2 : 220412405 - 220412405 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	705	116
ATP12A	479	broad.mit.edu	37	13	25281487	25281487	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25281487C>T	ENST00000381946.3	+	17	2576	c.2409C>T	c.(2407-2409)tgC>tgT	p.C803C	ATP12A_ENST00000218548.6_Silent_p.C809C			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	803					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CCGAGCTGTGCCCCTTTCTGA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(156;1582 1935 18898 22665 26498)							NA				0													200	192	195			NA	NA	13		NA											NA				25281487		2203	4300	6503	SO:0001819	synonymous_variant			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	479	479	3.6.3.10	ATPases / P-type	13816	protein-coding gene	gene with protein product	ATPase, Na+K+ transporting, alpha-1 polypeptide-like, potassium-transporting ATPase alpha chain 2, proton pump, non-gastric H(+)/K(+) ATPase alpha subunit, sodium/potassium ATPase, alpha polypeptide-like	182360	ATPase, Na+/K+ transporting, alpha polypeptide-like 1	ATP1AL1	NA	8838794, 2842249	Standard	NM_001676	NM_001676	NA	Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.2409C>T	13.37:g.25281487C>T		NA	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	37	CCDS31948.1																																																																																			ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044199.1		+	ENST00000381946.3	Silent	SNP	13 : 25281487 - 25281487 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	862	133
CREB3L1	90993	broad.mit.edu	37	11	46341984	46341984	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46341984C>T	ENST00000529193.1	+	11	1879	c.1428C>T	c.(1426-1428)caC>caT	p.H476H	CREB3L1_ENST00000288400.3_Silent_p.H476H			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	476					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		ACAGCACCCACGAGACCACCA	0.652		NA	T	FUS	myxofibrosarcoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(3;159 194 19597 26278 47995)		Dom	yes		11	11p11.2	90993	cAMP responsive element binding protein 3-like 1		M	0													32	42	39			NA	NA	11		NA											NA				46341984		2109	4213	6322	SO:0001819	synonymous_variant				CCDS53620.1	11q11	2013-01-10				ENSG00000157613	90993	90993		basic leucine zipper proteins	18856	protein-coding gene	gene with protein product	BBF-2 homolog (drosophila)				NA		Standard	NM_052854	NM_052854	NA	Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.1428C>T	11.37:g.46341984C>T		NA	Q8N2D5|Q96CP0	37	CCDS53620.1																																																																																			CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389702.1		+	ENST00000529193.1	Silent	SNP	11 : 46341984 - 46341984 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	115	28
HSD3B7	80270	broad.mit.edu	37	16	30999413	30999413	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30999413G>A	ENST00000297679.5	+	7	1112	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	HSD3B7_ENST00000353250.5_3'UTR|HSD3B7_ENST00000262520.6_3'UTR	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	340					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity	p.R340L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AAGGCTCAGCGCCATTTCGGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											41	36	38			NA	NA	16		NA											NA				30999413		2197	4300	6497	SO:0001583	missense			AF277719	CCDS10698.1, CCDS45466.1	16p11.2	2011-09-14			ENSG00000099377	ENSG00000099377	80270	80270	1.1.1.-	Short chain dehydrogenase/reductase superfamily / Extended SDR fold	18324	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 11E, member 3	607764			NA	11067870, 19027726	Standard		NM_001142777	NA	Approved	C(27)-3BETA-HSD, SDR11E3	uc002eaf.2	Q9H2F3	OTTHUMG00000132417	ENST00000297679.5:c.1019G>A	16.37:g.30999413G>A	ENSP00000297679:p.Arg340His	NA	Q9BSN9	37	CCDS10698.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504362	0.85176	.	.	ENSG00000099377	ENST00000297679	T	0.65549	-0.16	5.17	4.2	0.49525	.	0.105382	0.64402	D	0.000019	T	0.69869	0.3159	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	P	0.61275	0.886	T	0.71636	-0.4533	10	0.62326	D	0.03	-24.6471	9.4788	0.38889	0.1662:0.0:0.8338:0.0	.	340	Q9H2F3	3BHS7_HUMAN	H	340	ENSP00000297679:R340H	ENSP00000297679:R340H	R	+	2	0	HSD3B7	30906914	0.937000	0.31787	1.000000	0.80357	0.996000	0.88848	3.539000	0.53604	2.398000	0.81561	0.655000	0.94253	CGC	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255554.2		+	ENST00000297679.5	Missense_Mutation	SNP	16 : 30999413 - 30999413 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	36
LRRK1	79705	broad.mit.edu	37	15	101552339	101552339	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101552339T>C	ENST00000388948.3	+	10	1767	c.1408T>C	c.(1408-1410)Ttc>Ctc	p.F470L	LRRK1_ENST00000284395.5_Missense_Mutation_p.F467L	NM_024652.3	NP_078928.3	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	470					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCTGGGACTTTTCCAGCTTGA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	126	126			NA	NA	15		NA											NA				101552339		1833	4092	5925	SO:0001583	missense			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237	79705	79705			18608	protein-coding gene	gene with protein product		610986			NA	11347906, 14654223	Standard	NM_024652	XM_005254979	NA	Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.1408T>C	15.37:g.101552339T>C	ENSP00000373600:p.Phe470Leu	NA	Q6NVH5|Q6NYC0|Q6ZNL9|Q6ZNM9|Q96JN5|Q9H5S3	37	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	T	8.860	0.946632	0.18356	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.67698	-0.28;-0.28	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.55768	0.1941	L	0.39397	1.21	0.54753	D	0.99998	B	0.15141	0.012	B	0.14578	0.011	T	0.51849	-0.8653	10	0.11182	T	0.66	.	14.5142	0.67809	0.0:0.0:0.0:1.0	.	470	Q38SD2	LRRK1_HUMAN	L	470;467	ENSP00000373600:F470L;ENSP00000284395:F467L	ENSP00000284395:F467L	F	+	1	0	LRRK1	99369862	1.000000	0.71417	0.472000	0.27241	0.373000	0.29922	7.158000	0.77470	2.008000	0.58898	0.528000	0.53228	TTC	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384567.2		+	ENST00000388948.3	Missense_Mutation	SNP	15 : 101552339 - 101552339 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	790	139
DCLK1	9201	broad.mit.edu	37	13	36424911	36424911	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36424911G>A	ENST00000379892.4	-	7	1249	c.1038C>T	c.(1036-1038)gaC>gaT	p.D346D	DCLK1_ENST00000360631.3_Intron|DCLK1_ENST00000460982.1_5'UTR|DCLK1_ENST00000379893.1_Intron|DCLK1_ENST00000255448.4_Intron			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	346					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GGCGGTACAGGTCCTGCAAGA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	100	102			NA	NA	13		NA											NA				36424911		876	1991	2867	SO:0001819	synonymous_variant			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083	9201	9201			2700	protein-coding gene	gene with protein product		604742	doublecortin and CaM kinase-like 1	DCAMKL1	NA	9747029, 10036192	Standard	NM_004734	NM_004734	NA	Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000379892.4:c.1038C>T	13.37:g.36424911G>A		NA	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	37																																																																																				DCLK1-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000044478.1		-	ENST00000379892.4	Silent	SNP	13 : 36424911 - 36424911 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	307	44
SNX2	6643	broad.mit.edu	37	5	122152613	122152613	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122152613C>T	ENST00000514949.1	+	9	1254	c.451C>T	c.(451-453)Cct>Tct	p.P151S	SNX2_ENST00000510372.1_3'UTR|SNX2_ENST00000379516.2_Missense_Mutation_p.P268S	NM_001278199.1	NP_001265128.1	O60749	SNX2_HUMAN	sorting nexin 2	268	PX.				cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		ATTCCAGCTGCCTAGAGCAGT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	47	47			NA	NA	5		NA											NA				122152613		2203	4300	6503	SO:0001583	missense			AF043453	CCDS34217.1, CCDS64234.1	5q23.2	2011-05-03			ENSG00000205302	ENSG00000205302	6643	6643		Sorting nexins	11173	protein-coding gene	gene with protein product		605929			NA	9819414	Standard	NM_003100	NM_003100	NA	Approved		uc003kte.4	O60749	OTTHUMG00000163020	ENST00000514949.1:c.451C>T	5.37:g.122152613C>T	ENSP00000421663:p.Pro151Ser	NA	B3KN44|O43650|P82862|Q53XK8|Q597H6|Q9BTS8	37		.	.	.	.	.	.	.	.	.	.	C	24.4	4.532860	0.85812	.	.	ENSG00000205302	ENST00000379516;ENST00000514949	T;T	0.22945	2.0;1.93	5.93	5.93	0.95920	Phox homologous domain (2);	0.102077	0.64402	D	0.000001	T	0.56016	0.1957	M	0.90252	3.1	0.80722	D	1	P	0.51537	0.946	P	0.55260	0.772	T	0.63761	-0.6564	10	0.87932	D	0	-8.4387	20.3334	0.98727	0.0:1.0:0.0:0.0	.	268	O60749	SNX2_HUMAN	S	268;151	ENSP00000368831:P268S;ENSP00000421663:P151S	ENSP00000368831:P268S	P	+	1	0	SNX2	122180512	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.680000	0.84062	2.818000	0.97014	0.591000	0.81541	CCT	SNX2-011	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000371402.1		+	ENST00000514949.1	Missense_Mutation	SNP	5 : 122152613 - 122152613 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	135	7
MAPRE1	22919	broad.mit.edu	37	20	31413783	31413783	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31413783G>A	ENST00000375571.5	+	2	189	c.50G>A	c.(49-51)cGa>cAa	p.R17Q		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	17	CH.				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						AACCTAAGTCGACATGACATG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	136	146			NA	NA	20		NA											NA				31413783		2203	4300	6503	SO:0001583	missense			U24166	CCDS13208.1	20q11.1-q11.3	2013-01-17			ENSG00000101367	ENSG00000101367	22919	22919			6890	protein-coding gene	gene with protein product	adenomatous polyposis coli-binding protein EB1	603108			NA	7606712, 9724749, 11470413	Standard	NM_012325	NM_012325	NA	Approved	EB1	uc002wyh.3	Q15691	OTTHUMG00000032228	ENST00000375571.5:c.50G>A	20.37:g.31413783G>A	ENSP00000364721:p.Arg17Gln	NA	B2R6I7|E1P5M8|Q3KQS8	37	CCDS13208.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996251	0.74818	.	.	ENSG00000101367	ENST00000375571	T	0.51574	0.7	5.76	4.82	0.62117	Calponin homology domain (4);	0.000000	0.85682	D	0.000000	T	0.62109	0.2401	H	0.97051	3.93	0.80722	D	1	B	0.27791	0.189	B	0.14578	0.011	T	0.69379	-0.5161	10	0.72032	D	0.01	-1.0811	13.9326	0.64006	0.0725:0.0:0.9275:0.0	.	17	Q15691	MARE1_HUMAN	Q	17	ENSP00000364721:R17Q	ENSP00000364721:R17Q	R	+	2	0	MAPRE1	30877444	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	7.886000	0.87288	1.431000	0.47355	-0.140000	0.14226	CGA	MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078647.2		+	ENST00000375571.5	Missense_Mutation	SNP	20 : 31413783 - 31413783 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	514	99
TTC30A	92104	broad.mit.edu	37	2	178482197	178482197	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178482197C>A	ENST00000355689.5	-	1	1497	c.1233G>T	c.(1231-1233)aaG>aaT	p.K411N	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	NA					cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			CATTCACTGCCTTTTTGATAG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													238	240	239			NA	NA	2		NA											NA				178482197		2203	4300	6503	SO:0001583	missense			AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557	92104	92104		Tetratricopeptide (TTC) repeat domain containing	25853	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152275	NM_152275	NA	Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.1233G>T	2.37:g.178482197C>A	ENSP00000347915:p.Lys411Asn	NA	A8K8N0|Q8IVP2	37	CCDS2276.1	.	.	.	.	.	.	.	.	.	.	C	5.305	0.241587	0.10077	.	.	ENSG00000197557	ENST00000355689	T	0.38722	1.12	5.91	0.404	0.16355	Tetratricopeptide-like helical (1);	0.042836	0.85682	D	0.000000	T	0.44540	0.1298	M	0.70275	2.135	0.48571	D	0.999674	P	0.52842	0.956	P	0.50754	0.649	T	0.26710	-1.0095	10	0.38643	T	0.18	.	5.8059	0.18440	0.121:0.4448:0.0:0.4342	.	411	Q86WT1	TT30A_HUMAN	N	411	ENSP00000347915:K411N	ENSP00000347915:K411N	K	-	3	2	TTC30A	178190443	0.995000	0.38212	0.418000	0.26571	0.130000	0.20726	0.333000	0.19768	-0.209000	0.10156	-0.194000	0.12790	AAG	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255728.2		-	ENST00000355689.5	Missense_Mutation	SNP	2 : 178482197 - 178482197 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1559	316
ZMAT3	64393	broad.mit.edu	37	3	178785487	178785487	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:178785487C>T	ENST00000311417.2	-	2	795	c.54G>A	c.(52-54)tcG>tcA	p.S18S	ZMAT3_ENST00000432729.1_Silent_p.S18S	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	zinc finger, matrin-type 3	18					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding	p.S18S(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			ACATAGGAGGCGAGGGTGAGG	0.572		NA												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)											140	143	142			NA	NA	3		NA											NA				178785487		2203	4300	6503	SO:0001819	synonymous_variant			AK122768	CCDS3224.1, CCDS46962.1	3q26.32	2012-10-05	2010-09-15		ENSG00000172667	ENSG00000172667	64393	64393		Zinc fingers, matrin-type	29983	protein-coding gene	gene with protein product		606452			NA	9400996, 11689294	Standard	NM_152240	NM_022470	NA	Approved	WIG1, MGC10613, FLJ12296, WIG-1, PAG608	uc003fjg.3	Q9HA38	OTTHUMG00000157290	ENST00000311417.2:c.54G>A	3.37:g.178785487C>T		NA	B3KVA6|D3DNR1|Q96A21	37	CCDS3224.1																																																																																			ZMAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348336.2		-	ENST00000311417.2	Silent	SNP	3 : 178785487 - 178785487 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	894	179
HSPA2	3306	broad.mit.edu	37	14	65008035	65008035	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65008035C>T	ENST00000394709.1	+	2	544	c.468C>T	c.(466-468)cgC>cgT	p.R156R	HSPA2_ENST00000247207.6_Silent_p.R156R|HSPA2_ENST00000554883.1_Intron			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	156					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		ACTCGCAGCGCCAGGCCACCA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(136;1211 1835 24894 31984 38227)							NA				0													44	45	44			NA	NA	14		NA											NA				65008035		2203	4300	6503	SO:0001819	synonymous_variant			L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803	3306	3306		Heat shock proteins / HSP70	5235	protein-coding gene	gene with protein product		140560	heat shock 70kD protein 2		NA		Standard		NM_021979	NA	Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.468C>T	14.37:g.65008035C>T		NA	Q15508|Q53XM3|Q9UE78	37	CCDS9766.1																																																																																			HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280651.1		+	ENST00000394709.1	Silent	SNP	14 : 65008035 - 65008035 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	70
C5orf51	285636	broad.mit.edu	37	5	41912217	41912217	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41912217G>A	ENST00000381647.2	+	5	552	c.533G>A	c.(532-534)cGa>cAa	p.R178Q		NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	178										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CTAAATTATCGATGTCCTATC	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	GLN/ARG	0,4406		0,0,2203	172	173	173		533	5.8	1	5		173	1,8595	1.2+/-3.3	0,1,4297	no	missense	C5orf51	NM_175921.4	43	0,1,6500	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	178/295	41912217	1,13001	2203	4298	6501	SO:0001583	missense			AL833916, AK094002	CCDS34151.1	5p13.1	2008-07-18			ENSG00000205765	ENSG00000205765	285636	285636			27750	protein-coding gene	gene with protein product					NA	14702039	Standard	NM_175921	NM_175921	NA	Approved	LOC285636	uc003jmo.3	A6NDU8	OTTHUMG00000162084	ENST00000381647.2:c.533G>A	5.37:g.41912217G>A	ENSP00000371061:p.Arg178Gln	NA	A2RRM9	37	CCDS34151.1	.	.	.	.	.	.	.	.	.	.	G	35	5.522614	0.96431	0.0	1.16E-4	ENSG00000205765	ENST00000381647	D	0.82526	-1.62	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.87529	0.6200	L	0.34521	1.04	0.54753	D	0.99998	D	0.89917	1.0	D	0.85130	0.997	D	0.88372	0.2995	10	0.87932	D	0	-18.7221	18.3385	0.90297	0.0:0.0:1.0:0.0	.	178	A6NDU8	CE051_HUMAN	Q	178	ENSP00000371061:R178Q	ENSP00000371061:R178Q	R	+	2	0	C5orf51	41947974	1.000000	0.71417	0.984000	0.44739	0.986000	0.74619	7.713000	0.84693	2.767000	0.95098	0.555000	0.69702	CGA	C5orf51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367144.1		+	ENST00000381647.2	Missense_Mutation	SNP	5 : 41912217 - 41912217 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	724	128
RHBDD1	84236	broad.mit.edu	37	2	227771551	227771551	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:227771551A>G	ENST00000341329.3	+	4	851	c.609A>G	c.(607-609)ctA>ctG	p.L203L	RHBDD1_ENST00000409053.1_Silent_p.L37L|RHBDD1_ENST00000392062.2_Silent_p.L203L	NM_032276.3	NP_115652.2	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	203						integral to membrane	serine-type endopeptidase activity			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		TTGTTGGACTAATGTACACTC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	150	149			NA	NA	2		NA											NA				227771551		2203	4300	6503	SO:0001819	synonymous_variant			AK074258	CCDS2464.1	2q36.3	2012-07-09			ENSG00000144468	ENSG00000144468	84236	84236			23081	protein-coding gene	gene with protein product					NA	12838346	Standard		NM_032276	NA	Approved	DKFZp547E052	uc002voi.3	Q8TEB9	OTTHUMG00000133178	ENST00000341329.3:c.609A>G	2.37:g.227771551A>G		NA	Q495B9|Q53S43|Q5EBM8|Q6P5V8|Q8IV60|Q9H057	37	CCDS2464.1																																																																																			RHBDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256885.2		+	ENST00000341329.3	Silent	SNP	2 : 227771551 - 227771551 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	623	163
COG1	9382	broad.mit.edu	37	17	71196797	71196797	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71196797A>T	ENST00000299886.4	+	6	1243	c.1163A>T	c.(1162-1164)gAg>gTg	p.E388V		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	388					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			GCCATGTGGGAGTTACTTACC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	103	106			NA	NA	17		NA											NA				71196797		2203	4300	6503	SO:0001583	missense				CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685	9382	9382		Components of oligomeric golgi complex	6545	protein-coding gene	gene with protein product		606973	low density lipoprotein receptor defect B complementing	LDLB	NA	9927668	Standard		NM_018714	NA	Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.1163A>T	17.37:g.71196797A>T	ENSP00000299886:p.Glu388Val	NA	Q9NPV9|Q9P2G6	37	CCDS11692.1	.	.	.	.	.	.	.	.	.	.	A	12.54	1.969484	0.34754	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.25749	1.78;1.78	5.53	3.26	0.37387	.	0.454480	0.26424	N	0.024450	T	0.31040	0.0784	M	0.65975	2.015	0.52501	D	0.999954	P;P;P	0.49253	0.921;0.756;0.921	P;B;P	0.47744	0.556;0.372;0.556	T	0.02450	-1.1157	10	0.34782	T	0.22	-5.8888	8.2047	0.31446	0.7958:0.1345:0.0696:0.0	.	388;388;388	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	V	388	ENSP00000400111:E388V;ENSP00000299886:E388V	ENSP00000299886:E388V	E	+	2	0	COG1	68708392	1.000000	0.71417	0.446000	0.26920	0.759000	0.43091	4.832000	0.62759	0.369000	0.24510	0.460000	0.39030	GAG	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000441638.1		+	ENST00000299886.4	Missense_Mutation	SNP	17 : 71196797 - 71196797 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	536	123
TTN	7273	broad.mit.edu	37	2	179598373	179598373	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179598373C>T	ENST00000589042.1	-	53	15967	c.15743G>A	c.(15742-15744)aGc>aAc	p.S5248N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S4004N|TTN_ENST00000591111.1_Missense_Mutation_p.S4931N|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4931	Ig-like 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGATGTTTGGCTTCCAGCTTC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	113	114			NA	NA	2		NA											NA				179598373		1853	4090	5943	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.15743G>A	2.37:g.179598373C>T	ENSP00000467141:p.Ser5248Asn	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057724	0.36277	.	.	ENSG00000155657	ENST00000342992	T	0.68331	-0.32	5.97	5.97	0.96955	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71333	0.3327	L	0.53561	1.675	0.80722	D	1	D	0.53312	0.959	P	0.47603	0.551	T	0.73914	-0.3832	9	0.87932	D	0	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	4931	Q8WZ42	TITIN_HUMAN	N	4004	ENSP00000343764:S4004N	ENSP00000343764:S4004N	S	-	2	0	TTN	179306618	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.024000	0.49674	2.836000	0.97738	0.655000	0.94253	AGC	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179598373 - 179598373 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	622	163
AMOTL1	154810	broad.mit.edu	37	11	94533141	94533141	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94533141G>T	ENST00000433060.2	+	3	926	c.785G>T	c.(784-786)aGc>aTc	p.S262I	AMOTL1_ENST00000317829.8_Missense_Mutation_p.S212I|AMOTL1_ENST00000317837.9_Missense_Mutation_p.S262I	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	262						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CGCTCGCTCAGCGAGAGAATC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	46	44			NA	NA	11		NA											NA				94533141		2031	4186	6217	SO:0001583	missense			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025	154810	154810			17811	protein-coding gene	gene with protein product	junction-enriched and associated protein	614657			NA	11733531	Standard	NM_130847	XM_005273798	NA	Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.785G>T	11.37:g.94533141G>T	ENSP00000387739:p.Ser262Ile	NA	Q63HK7|Q8NDN0|Q8WXD1|Q96CM5	37	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839201	0.71373	.	.	ENSG00000166025	ENST00000317829;ENST00000542840;ENST00000317837;ENST00000433060	T;T;T	0.19938	2.11;2.11;2.11	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.51856	0.1699	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.99	T	0.56123	-0.8031	9	.	.	.	-15.7647	18.5608	0.91100	0.0:0.0:1.0:0.0	.	212;262	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	I	212;268;262;262	ENSP00000320968:S212I;ENSP00000323474:S262I;ENSP00000387739:S262I	.	S	+	2	0	AMOTL1	94172789	1.000000	0.71417	0.938000	0.37757	0.941000	0.58515	9.625000	0.98406	2.395000	0.81488	0.555000	0.69702	AGC	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396474.3		+	ENST00000433060.2	Missense_Mutation	SNP	11 : 94533141 - 94533141 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	65
AGXT	189	broad.mit.edu	37	2	241814608	241814608	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241814608G>A	ENST00000307503.3	+	7	1150	c.763G>A	c.(763-765)Gac>Aac	p.D255N		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	255					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GGGCTGTGACGACCAGCCCAG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	63	64			NA	NA	2		NA											NA				241814608		2203	4300	6503	SO:0001583	missense			D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	189	189	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	oxalosis I, primary hyperoxaluria type 1, L-alanine: glyoxylate aminotransferase 1, serine:pyruvate aminotransferase, glycolicaciduria	604285		SPAT	NA	2039493, 2045108	Standard	NM_000030	NM_000030	NA	Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.763G>A	2.37:g.241814608G>A	ENSP00000302620:p.Asp255Asn	NA	Q53QU6	37	CCDS2543.1	.	.	.	.	.	.	.	.	.	.	g	10.24	1.296783	0.23650	.	.	ENSG00000172482	ENST00000307503	D	0.87809	-2.3	3.79	2.61	0.31194	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.360637	0.30260	N	0.010038	T	0.78444	0.4284	L	0.29908	0.895	0.09310	N	0.999998	B	0.06786	0.001	B	0.06405	0.002	T	0.68450	-0.5405	10	0.40728	T	0.16	-15.842	11.0699	0.47997	0.1204:0.0:0.8796:0.0	.	255	P21549	SPYA_HUMAN	N	255	ENSP00000302620:D255N	ENSP00000302620:D255N	D	+	1	0	AGXT	241463281	0.714000	0.27936	0.291000	0.24904	0.339000	0.28857	3.413000	0.52686	1.674000	0.50907	0.639000	0.83563	GAC	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257186.1		+	ENST00000307503.3	Missense_Mutation	SNP	2 : 241814608 - 241814608 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	14
EVPL	2125	broad.mit.edu	37	17	74017770	74017770	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74017770C>T	ENST00000301607.3	-	8	1153	c.900G>A	c.(898-900)gcG>gcA	p.A300A	EVPL_ENST00000586740.1_Silent_p.A300A	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	300	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGGGCCCCACCGCGGGGTGCC	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	16	15			NA	NA	17		NA											NA				74017770		2185	4264	6449	SO:0001819	synonymous_variant			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880	2125	2125			3503	protein-coding gene	gene with protein product		601590			NA	8938451, 10409435	Standard	NM_001988	NM_001988	NA	Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.900G>A	17.37:g.74017770C>T		NA	A0AUV5	37	CCDS11737.1																																																																																			EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449483.1		-	ENST00000301607.3	Silent	SNP	17 : 74017770 - 74017770 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	154	34
TMEM55B	90809	broad.mit.edu	37	14	20928928	20928928	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20928928G>A	ENST00000250489.4	-	2	505	c.219C>T	c.(217-219)agC>agT	p.S73S	TMEM55B_ENST00000398020.4_Silent_p.S80S			Q86T03	TM55B_HUMAN	transmembrane protein 55B	73	Pro-rich.					integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		CACTGTCCGGGCTAGTTAAGG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	108	109			NA	NA	14		NA											NA				20928928		2203	4300	6503	SO:0001819	synonymous_variant			BC002867	CCDS9551.1, CCDS41911.1	14q11.1	2002-11-27	2005-07-18	2005-07-18	ENSG00000165782	ENSG00000165782	90809	90809			19299	protein-coding gene	gene with protein product		609865	chromosome 14 open reading frame 9	C14orf9	NA		Standard	NM_144568	NM_144568	NA	Approved	MGC26684	uc001vxk.2	Q86T03	OTTHUMG00000029545	ENST00000250489.4:c.219C>T	14.37:g.20928928G>A		NA	B2RA35|Q86U09|Q8WUC0|Q9BU67|Q9NSU8	37	CCDS9551.1																																																																																			TMEM55B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000073643.3		-	ENST00000250489.4	Silent	SNP	14 : 20928928 - 20928928 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	593	15
CTD-3222D19.2	0	broad.mit.edu	37	19	16623887	16623887	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16623887G>A	ENST00000409035.1	-	7	1924				C19orf44_ENST00000221671.3_Missense_Mutation_p.A568T|C19orf44_ENST00000594035.1_Intron						NA											NA						GACACCCATCGCCAATCATGT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	43	44			NA	NA	19		NA											NA				16623887		2203	4300	6503	SO:0001627	intron_variant											NA	NA			NA							NA					NA						ENST00000409035.1:c.1281+6090C>T	19.37:g.16623887G>A		NA		37		.	.	.	.	.	.	.	.	.	.	g	21.2	4.110111	0.77210	.	.	ENSG00000105072	ENST00000221671	.	.	.	5.21	4.16	0.48862	.	0.063724	0.64402	D	0.000011	T	0.78585	0.4306	M	0.80746	2.51	0.40483	D	0.980463	D	0.89917	1.0	D	0.72625	0.978	T	0.82404	-0.0474	9	0.87932	D	0	-19.066	13.2796	0.60207	0.0:0.1588:0.8412:0.0	.	568	Q9H6X5	CS044_HUMAN	T	568	.	ENSP00000221671:A568T	A	+	1	0	C19orf44	16484887	1.000000	0.71417	0.954000	0.39281	0.568000	0.35870	5.985000	0.70556	1.207000	0.43291	0.645000	0.84053	GCC	CTD-3222D19.2-001	KNOWN	basic|appris_principal|readthrough_transcript|exp_conf	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000461092.1		-	ENST00000409035.1	Intron	SNP	19 : 16623887 - 16623887 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	277	62
NPNT	255743	broad.mit.edu	37	4	106858269	106858269	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:106858269G>A	ENST00000379987.2	+	4	585	c.369G>A	c.(367-369)ccG>ccA	p.P123P	NPNT_ENST00000453617.2_Silent_p.P140P|NPNT_ENST00000514622.1_Silent_p.P123P|NPNT_ENST00000427316.2_Silent_p.P153P|NPNT_ENST00000506666.1_Silent_p.P153P|NPNT_ENST00000513430.1_3'UTR|NPNT_ENST00000305572.8_Silent_p.P123P	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	123	EGF-like 2; calcium-binding (Potential).				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TGCTCATGCCGGATGGTTCCT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	140	150			NA	NA	4		NA											NA				106858269		2203	4300	6503	SO:0001819	synonymous_variant				CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07					255743	255743			27405	protein-coding gene	gene with protein product		610306			NA	15754038	Standard	NM_198278	NM_001033047	NA	Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.369G>A	4.37:g.106858269G>A		NA	A6NFT9|A8K1W4|D6RCA1	37	CCDS34046.1	.	.	.	.	.	.	.	.	.	.	G	8.664	0.901179	0.17760	.	.	ENSG00000168743	ENST00000514837	.	.	.	5.05	-4.08	0.03963	.	.	.	.	.	T	0.37732	0.1014	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34254	-0.9836	4	.	.	.	.	1.5229	0.02519	0.4598:0.199:0.1508:0.1904	.	.	.	.	R	100	.	.	G	+	1	0	NPNT	107077718	0.005000	0.15991	0.965000	0.40720	0.970000	0.65996	-1.179000	0.03090	-0.777000	0.04572	-0.165000	0.13383	GGA	NPNT-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364083.1		+	ENST00000379987.2	Silent	SNP	4 : 106858269 - 106858269 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	712	141
CNTN2	6900	broad.mit.edu	37	1	205034326	205034326	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205034326G>A	ENST00000331830.4	+	13	1915	c.1631G>A	c.(1630-1632)tGg>tAg	p.W544*		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	544	Ig-like C2-type 6.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACCTTCACCTGGACCCTGGAC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(183;2548 2817 37099 41192)							NA				0													188	165	173			NA	NA	1		NA											NA				205034326		2203	4300	6503	SO:0001587	stop_gained			X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144	6900	6900		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	2172	protein-coding gene	gene with protein product		190197		TAX, AXT	NA	8307567, 8586965	Standard	NM_005076	NM_005076	NA	Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.1631G>A	1.37:g.205034326G>A	ENSP00000330633:p.Trp544*	NA	P78432|Q5T054	37	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	G	43	9.923856	0.99297	.	.	ENSG00000184144	ENST00000331830	.	.	.	5.71	5.71	0.89125	.	0.000000	0.50627	D	0.000115	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4451	0.94843	0.0:0.0:1.0:0.0	.	.	.	.	X	544	.	ENSP00000330633:W544X	W	+	2	0	CNTN2	203300949	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.414000	0.97362	2.697000	0.92050	0.563000	0.77884	TGG	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090080.3		+	ENST00000331830.4	Nonsense_Mutation	SNP	1 : 205034326 - 205034326 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	809	227
WDR6	11180	broad.mit.edu	37	3	49051698	49051698	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49051698G>A	ENST00000415265.2	+	3	1018	c.982G>A	c.(982-984)Gct>Act	p.A328T	WDR6_ENST00000395474.3_Missense_Mutation_p.A910T|WDR6_ENST00000448293.1_Missense_Mutation_p.A829T|WDR6_ENST00000608424.1_Missense_Mutation_p.A880T			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	880					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CCCCCTTGTGGCTGCAGCCTG	0.587		NA									OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	56	57			NA	NA	3		NA											NA				49051698		2203	4300	6503	SO:0001583	missense			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252	11180	11180		WD repeat domain containing	12758	protein-coding gene	gene with protein product		606031			NA		Standard		NM_018031	NA	Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000415265.2:c.982G>A	3.37:g.49051698G>A	ENSP00000412195:p.Ala328Thr	959	B4DHK2|Q3MIT1|Q9UF63	37		.	.	.	.	.	.	.	.	.	.	G	36	5.657365	0.96724	.	.	ENSG00000178252	ENST00000395474;ENST00000415265;ENST00000448293	T;T;T	0.74737	2.43;-0.87;-0.87	5.58	5.58	0.84498	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.050208	0.85682	D	0.000000	D	0.83626	0.5295	L	0.56769	1.78	0.58432	D	0.999995	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.942;0.984;0.995	T	0.79794	-0.1653	10	0.25106	T	0.35	-16.8242	18.5456	0.91045	0.0:0.0:1.0:0.0	.	328;880;829	E9PBK6;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	T	910;328;829	ENSP00000378857:A910T;ENSP00000412195:A328T;ENSP00000413432:A829T	ENSP00000378857:A910T	A	+	1	0	WDR6	49026702	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.130000	0.64745	2.626000	0.88956	0.555000	0.69702	GCT	WDR6-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000342278.1		+	ENST00000415265.2	Missense_Mutation	SNP	3 : 49051698 - 49051698 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	12
PTGIS	5740	broad.mit.edu	37	20	48164483	48164483	+	Missense_Mutation	SNP	C	C	T	rs144185728		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:48164483C>T	ENST00000244043.4	-	3	301	c.272G>A	c.(271-273)cGc>cAc	p.R91H	PTGIS_ENST00000478971.1_Intron	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	91					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GAGCCTGGTGCGAGGCTCCCA	0.557		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	123	110	114		272	3.1	0.6	20	dbSNP_134	114	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PTGIS	NM_000961.3	29	0,2,6501	TT,TC,CC	NA	0.0233,0.0,0.0154	benign	91/501	48164483	2,13004	2203	4300	6503	SO:0001583	missense				CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5740	5740	5.3.99.4	Cytochrome P450s	9603	protein-coding gene	gene with protein product	cytochrome P450, family 8, subfamily A, polypeptide 1	601699			NA	8812456	Standard		NM_000961	NA	Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.272G>A	20.37:g.48164483C>T	ENSP00000244043:p.Arg91His	NA	Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	37	CCDS13419.1	.	.	.	.	.	.	.	.	.	.	C	9.361	1.067960	0.20067	0.0	2.33E-4	ENSG00000124212	ENST00000244043	T	0.68624	-0.34	5.01	3.07	0.35406	.	0.452476	0.24220	N	0.040442	T	0.48205	0.1487	N	0.16368	0.405	0.35058	D	0.761245	B	0.14438	0.01	B	0.08055	0.003	T	0.50145	-0.8862	10	0.42905	T	0.14	-15.4298	10.6534	0.45661	0.0:0.8382:0.0:0.1618	.	91	Q16647	PTGIS_HUMAN	H	91	ENSP00000244043:R91H	ENSP00000244043:R91H	R	-	2	0	PTGIS	47597890	0.993000	0.37304	0.603000	0.28903	0.174000	0.22865	1.806000	0.38892	0.502000	0.28037	-0.463000	0.05309	CGC	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080496.2		-	ENST00000244043.4	Missense_Mutation	SNP	20 : 48164483 - 48164483 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	779	138
KMT2C	58508	broad.mit.edu	37	7	151878668	151878668	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151878668G>T	ENST00000262189.6	-	36	6495	c.6277C>A	c.(6277-6279)Cca>Aca	p.P2093T	KMT2C_ENST00000355193.2_Missense_Mutation_p.P2093T	NM_170606.2	NP_733751.2			lysine (K)-specific methyltransferase 2C	NA											NA						TGACTATATGGATCATTTGAC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	84	84			NA	NA	7		NA											NA				151878668		2203	4300	6503	SO:0001583	missense			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609	58508	58508		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	13726	protein-coding gene	gene with protein product		606833	myeloid/lymphoid or mixed-lineage leukemia 3	MLL3	NA	10819331	Standard		XM_005250026	NA	Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6277C>A	7.37:g.151878668G>T	ENSP00000262189:p.Pro2093Thr	NA		37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111237	0.37242	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.55052	0.54;0.54	5.62	5.62	0.85841	.	0.000000	0.44688	D	0.000429	T	0.72755	0.3500	M	0.74881	2.28	0.80722	D	1	D;D	0.71674	0.961;0.998	P;D	0.66351	0.617;0.943	T	0.73145	-0.4075	10	0.51188	T	0.08	.	19.6753	0.95930	0.0:0.0:1.0:0.0	.	2093;1154	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	T	2093	ENSP00000262189:P2093T;ENSP00000347325:P2093T	ENSP00000262189:P2093T	P	-	1	0	MLL3	151509601	1.000000	0.71417	0.594000	0.28785	0.643000	0.38383	3.899000	0.56288	2.648000	0.89879	0.563000	0.77884	CCA	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318887.3		-	ENST00000262189.6	Missense_Mutation	SNP	7 : 151878668 - 151878668 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	61
SLC4A3	6508	broad.mit.edu	37	2	220497695	220497695	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220497695G>A	ENST00000358055.3	+	9	1753	c.1241G>A	c.(1240-1242)aGg>aAg	p.R414K	SLC4A3_ENST00000373760.2_Missense_Mutation_p.R414K|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R441K|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R414K|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R441K			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	414					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGGAGGACAGGGCCAGCGTC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	58	61			NA	NA	2		NA											NA				220497695		2203	4300	6503	SO:0001583	missense				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923	6508	6508		Solute carriers	11029	protein-coding gene	gene with protein product	Anion exchanger 3, neuronal	106195	solute carrier family 4, anion exchanger, member 3		NA	8001971	Standard	NM_005070	NM_005070	NA	Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.1241G>A	2.37:g.220497695G>A	ENSP00000350756:p.Arg414Lys	NA	A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	37	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758539	0.89843	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151;ENST00000413743	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	4.72	4.72	0.59763	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	T	0.76758	0.4032	L	0.53780	1.695	0.80722	D	1	D;D	0.63880	0.975;0.993	D;D	0.65323	0.934;0.916	T	0.74942	-0.3492	10	0.31617	T	0.26	.	17.71	0.88319	0.0:0.0:1.0:0.0	.	414;441	P48751;P48751-3	B3A3_HUMAN;.	K	414;414;441;441;414;216	ENSP00000350756:R414K;ENSP00000362865:R414K;ENSP00000273063:R441K;ENSP00000362867:R441K;ENSP00000314006:R414K;ENSP00000414722:R216K	ENSP00000273063:R441K	R	+	2	0	SLC4A3	220205939	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	9.859000	0.99545	2.163000	0.67991	0.643000	0.83706	AGG	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316472.1		+	ENST00000358055.3	Missense_Mutation	SNP	2 : 220497695 - 220497695 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	47
CECR2	27443	broad.mit.edu	37	22	18022140	18022140	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18022140C>T	ENST00000400585.2	+	16	2257	c.1819C>T	c.(1819-1821)Cac>Tac	p.H607Y	CECR2_ENST00000262608.8_Missense_Mutation_p.H749Y|CECR2_ENST00000400573.5_Missense_Mutation_p.H748Y			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	790					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GAATCGAGTACACTCTGCCGT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	41	40			NA	NA	22		NA											NA				18022140		1941	4135	6076	SO:0001583	missense			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954	27443	27443			1840	protein-coding gene	gene with protein product		607576			NA	11381032	Standard	NM_031413	XM_006724077	NA	Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1819C>T	22.37:g.18022140C>T	ENSP00000383428:p.His607Tyr	NA	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	37		.	.	.	.	.	.	.	.	.	.	C	16.69	3.191860	0.58017	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.28454	1.73;1.72;1.61	5.29	5.29	0.74685	.	0.219710	0.31847	N	0.006966	T	0.33323	0.0859	M	0.62723	1.935	0.41284	D	0.986931	P;P;P	0.46395	0.877;0.8;0.8	B;B;B	0.37943	0.261;0.261;0.261	T	0.36841	-0.9731	10	0.87932	D	0	-16.3606	17.289	0.87150	0.0:1.0:0.0:0.0	.	790;607;748	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	Y	607;748;749	ENSP00000383428:H607Y;ENSP00000383417:H748Y;ENSP00000262608:H749Y	ENSP00000262608:H749Y	H	+	1	0	CECR2	16402140	0.957000	0.32711	0.998000	0.56505	0.908000	0.53690	2.757000	0.47557	2.756000	0.94617	0.561000	0.74099	CAC	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000316226.2		+	ENST00000400585.2	Missense_Mutation	SNP	22 : 18022140 - 18022140 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	249	48
GSTO2	119391	broad.mit.edu	37	10	106058905	106058905	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106058905G>A	ENST00000369707.2	+	5	625	c.511G>A	c.(511-513)Gcc>Acc	p.A171T	GSTO2_ENST00000338595.2_Missense_Mutation_p.A199T|GSTO2_ENST00000429569.2_Missense_Mutation_p.S101N|GSTO2_ENST00000450629.2_Missense_Mutation_p.A165T	NM_001191014.1	NP_001177943.1	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2	NA	GST C-terminal.				water-soluble vitamin metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	CCACACGCCAGCCCTGCGGCT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	80	81			NA	NA	10		NA											NA				106058905		2203	4300	6503	SO:0001583	missense			AY191318	CCDS7556.1, CCDS53574.1, CCDS53575.1	10q25.1	2012-06-21			ENSG00000065621	ENSG00000065621	119391	119391	2.5.1.18, 1.8.5.1, 1.20.4.2	Glutathione S-transferases / Soluble	23064	protein-coding gene	gene with protein product		612314			NA	12618591	Standard	NM_183239	NM_001191013	NA	Approved		uc001kyb.3	Q9H4Y5	OTTHUMG00000019006	ENST00000369707.2:c.511G>A	10.37:g.106058905G>A	ENSP00000358721:p.Ala171Thr	NA	A8K771|Q49TW5|Q5GM70|Q86WP3	37	CCDS53575.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.23|11.23	1.578633|1.578633	0.28180|0.28180	.|.	.|.	ENSG00000065621|ENSG00000065621	ENST00000369708;ENST00000338595;ENST00000450629;ENST00000369707|ENST00000429569	D;T;D|T	0.93712|0.13657	-3.27;2.54;-3.27|2.57	6.04|6.04	-0.589|-0.589	0.11683|0.11683	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);|.	0.711447|.	0.15275|.	N|.	0.271039|.	T|T	0.06735|0.06735	0.0172|0.0172	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	B;B|B	0.02656|0.17465	0.0;0.0|0.022	B;B|B	0.04013|0.11329	0.001;0.001|0.006	T|T	0.43940|0.43940	-0.9360|-0.9360	10|9	0.32370|0.09843	T|T	0.25|0.71	-0.508|-0.508	3.077|3.077	0.06249|0.06249	0.416:0.0:0.2755:0.3085|0.416:0.0:0.2755:0.3085	.|.	165;199|101	B4DJW6;Q9H4Y5|B4DML4	.;GSTO2_HUMAN|.	T|N	199;199;165;171|101	ENSP00000345023:A199T;ENSP00000390986:A165T;ENSP00000358721:A171T|ENSP00000407381:S101N	ENSP00000345023:A199T|ENSP00000407381:S101N	A|S	+|+	1|2	0|0	GSTO2|GSTO2	106048895|106048895	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.866000|0.866000	0.49608|0.49608	0.981000|0.981000	0.29526|0.29526	-0.050000|-0.050000	0.13356|0.13356	0.563000|0.563000	0.77884|0.77884	GCC|AGC	GSTO2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050211.3		+	ENST00000369707.2	Missense_Mutation	SNP	10 : 106058905 - 106058905 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	481	76
ITPR3	3710	broad.mit.edu	37	6	33656032	33656032	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33656032G>A	ENST00000374316.5	+	49	7452	c.6392G>A	c.(6391-6393)cGc>cAc	p.R2131H	ITPR3_ENST00000605930.1_Missense_Mutation_p.R2131H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2131					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CGGCAGGACCGCAGCATGGAG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	98	104			NA	NA	6		NA											NA				33656032		2203	4300	6503	SO:0001583	missense			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433	3710	3710		Ion channels / Inositol triphosphate receptors	6182	protein-coding gene	gene with protein product		147267	inositol 1,4,5-triphosphate receptor, type 3		NA	8081734, 8288584	Standard	NM_002224	NM_002224	NA	Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.6392G>A	6.37:g.33656032G>A	ENSP00000363435:p.Arg2131His	NA	Q14649|Q5TAQ2	37	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	35	5.562243	0.96527	.	.	ENSG00000096433	ENST00000374316	D	0.92545	-3.06	5.53	5.53	0.82687	.	0.115345	0.64402	D	0.000010	D	0.94915	0.8356	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.67725	0.953;0.656	D	0.94548	0.7751	10	0.56958	D	0.05	-27.8597	19.4641	0.94931	0.0:0.0:1.0:0.0	.	2131;1801	Q14573;Q59ES2	ITPR3_HUMAN;.	H	2131	ENSP00000363435:R2131H	ENSP00000363435:R2131H	R	+	2	0	ITPR3	33764010	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.854000	0.99522	2.594000	0.87642	0.650000	0.86243	CGC	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040204.2		+	ENST00000374316.5	Missense_Mutation	SNP	6 : 33656032 - 33656032 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	491	90
GNB5	10681	broad.mit.edu	37	15	52425618	52425618	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52425618C>T	ENST00000261837.7	-	9	885	c.820G>A	c.(820-822)Gtg>Atg	p.V274M	CTD-2184D3.7_ENST00000557898.1_RNA|GNB5_ENST00000559348.1_5'UTR|GNB5_ENST00000396335.4_Missense_Mutation_p.V162M|GNB5_ENST00000358784.7_Missense_Mutation_p.V232M	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	274						heterotrimeric G-protein complex	GTPase activity|signal transducer activity			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		AAGGCCTGCACGCACTGGCCG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	MET/VAL,MET/VAL	0,4390		0,0,2195	164	126	139		694,820	4.8	1	15		139	4,8582	3.7+/-12.6	0,4,4289	yes	missense,missense	GNB5	NM_006578.3,NM_016194.3	21,21	0,4,6484	TT,TC,CC	NA	0.0466,0.0,0.0308	possibly-damaging,possibly-damaging	232/354,274/396	52425618	4,12972	2195	4293	6488	SO:0001583	missense			AF017656	CCDS10149.1, CCDS45261.1	15q21.1	2013-01-10			ENSG00000069966	ENSG00000069966	NA	10681		WD repeat domain containing	4401	protein-coding gene	gene with protein product		604447			NA	9606987	Standard		NM_016194	NA	Approved	GB5	uc031qrz.1	O14775	OTTHUMG00000131892	ENST00000261837.7:c.820G>A	15.37:g.52425618C>T	ENSP00000261837:p.Val274Met	NA	Q9HAU9|Q9UFT3	37	CCDS10149.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925855	0.73213	0.0	4.66E-4	ENSG00000069966	ENST00000261837;ENST00000396335;ENST00000544480;ENST00000358784	T	0.62105	0.05	5.78	4.77	0.60923	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.126087	0.52532	D	0.000066	T	0.58764	0.2145	L	0.37630	1.12	0.80722	D	1	P;P	0.46621	0.881;0.871	P;P	0.51701	0.574;0.677	T	0.60860	-0.7179	10	0.66056	D	0.02	-18.5063	6.5084	0.22208	0.0:0.7194:0.0:0.2806	.	274;162	O14775;O14775-3	GBB5_HUMAN;.	M	274;232;72;162	ENSP00000261837:V274M	ENSP00000261837:V274M	V	-	1	0	GNB5	50212910	0.997000	0.39634	0.990000	0.47175	0.929000	0.56500	3.033000	0.49743	2.724000	0.93272	0.563000	0.77884	GTG	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254842.1		-	ENST00000261837.7	Missense_Mutation	SNP	15 : 52425618 - 52425618 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	500	80
SPTA1	6708	broad.mit.edu	37	1	158650471	158650471	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158650471C>T	ENST00000368147.4	-	5	760	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	NA					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGCAGAACTTCGGTGCGCTCC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	LYS/GLU	1,3769		0,1,1884	118	115	116		580	5.1	1	1		116	0,8248		0,0,4124	no	missense	SPTA1	NM_003126.2	56	0,1,6008	TT,TC,CC	NA	0.0,0.0265,0.0083	probably-damaging	194/2420	158650471	1,12017	1885	4124	6009	SO:0001583	missense			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554	6708	6708		EF-hand domain containing	11272	protein-coding gene	gene with protein product	elliptocytosis 2	182860	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		NA		Standard	NM_003126	NM_003126	NA	Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.580G>A	1.37:g.158650471C>T	ENSP00000357129:p.Glu194Lys	NA	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675462	0.88445	2.65E-4	0.0	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52295	0.67;0.67	5.07	5.07	0.68467	.	0.000000	0.32459	N	0.006061	T	0.67154	0.2863	M	0.87038	2.855	0.58432	D	0.999998	D	0.76494	0.999	D	0.70716	0.97	T	0.69720	-0.5069	10	0.45353	T	0.12	.	17.2088	0.86925	0.0:1.0:0.0:0.0	.	194	P02549	SPTA1_HUMAN	K	194	ENSP00000357130:E194K;ENSP00000357129:E194K	ENSP00000357129:E194K	E	-	1	0	SPTA1	156917095	1.000000	0.71417	0.997000	0.53966	0.421000	0.31385	5.350000	0.66016	2.627000	0.88993	0.650000	0.86243	GAA	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051851.3		-	ENST00000368147.4	Missense_Mutation	SNP	1 : 158650471 - 158650471 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	571	152
GPSM1	26086	broad.mit.edu	37	9	139229123	139229123	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139229123G>A	ENST00000392945.3	+	2	508	c.288G>A	c.(286-288)gcG>gcA	p.A96A	GPSM1_ENST00000440944.1_Silent_p.A96A	NM_015597.4	NP_056412.5	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	96	Mediates association with membranes (By similarity).				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		TCCTGCTGGCGCGGTGAGTGG	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	36	36			NA	NA	9		NA											NA				139229123		2203	4300	6503	SO:0001819	synonymous_variant			AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360	26086	26086		Tetratricopeptide (TTC) repeat domain containing	17858	protein-coding gene	gene with protein product	AGS3 homolog (C. elegans)	609491	G-protein signalling modulator 1 (AGS3-like, C. elegans)		NA	11278352, 10969064	Standard	NM_015597	NM_001145639	NA	Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000392945.3:c.288G>A	9.37:g.139229123G>A		NA	A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	37	CCDS6996.2																																																																																			GPSM1-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253513.2		+	ENST00000392945.3	Silent	SNP	9 : 139229123 - 139229123 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	42
DSEL	92126	broad.mit.edu	37	18	65178934	65178934	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:65178934C>A	ENST00000310045.7	-	2	4415	c.2942G>T	c.(2941-2943)aGa>aTa	p.R981I	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	971						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CATTTGACTTCTTTGTTCTGG	0.398		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	18		NA											NA				65178934		2191	4299	6490	SO:0001583	missense			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451	92126	92126			18144	protein-coding gene	gene with protein product		611125	chromosome 18 open reading frame 4	C18orf4	NA	16505484	Standard	NM_032160	NM_032160	NA	Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2942G>T	18.37:g.65178934C>A	ENSP00000310565:p.Arg981Ile	NA	Q17RH1|Q6P5Z3	37	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.591988	0.46214	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.20463	2.07	5.17	4.29	0.51040	Sulfotransferase domain (1);	0.078108	0.50627	U	0.000120	T	0.32102	0.0818	L	0.44542	1.39	0.54753	D	0.999988	D	0.58970	0.984	P	0.60541	0.876	T	0.02567	-1.1140	10	0.87932	D	0	-17.4992	10.2898	0.43588	0.0:0.848:0.0:0.152	.	971	Q8IZU8	DSEL_HUMAN	I	981;971	ENSP00000310565:R981I	ENSP00000310565:R981I	R	-	2	0	DSEL	63329914	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	1.523000	0.35932	2.403000	0.81681	0.563000	0.77884	AGA	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256221.1		-	ENST00000310045.7	Missense_Mutation	SNP	18 : 65178934 - 65178934 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	47
ANLN	54443	broad.mit.edu	37	7	36446155	36446155	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36446155G>A	ENST00000265748.2	+	4	1074	c.853G>A	c.(853-855)Gcc>Acc	p.A285T	ANLN_ENST00000396068.2_Missense_Mutation_p.A285T	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	285	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TTTGGTTAATGCCTCAATTTC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													236	227	230			NA	NA	7		NA											NA				36446155		2203	4300	6503	SO:0001583	missense			AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426	54443	54443		Pleckstrin homology (PH) domain containing	14082	protein-coding gene	gene with protein product			anillin (Drosophila Scraps homolog), actin binding protein, anillin, actin binding protein (scraps homolog, Drosophila)		NA	10931866	Standard	NM_018685	NM_001284301	NA	Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.853G>A	7.37:g.36446155G>A	ENSP00000265748:p.Ala285Thr	NA	Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	37	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.317863	0.40996	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.04970	3.52;3.52	4.2	4.2	0.49525	.	1.274390	0.04880	N	0.447517	T	0.08492	0.0211	L	0.44542	1.39	0.09310	N	1	B;B;B;B	0.18013	0.025;0.004;0.008;0.004	B;B;B;B	0.18561	0.022;0.005;0.011;0.005	T	0.38286	-0.9668	10	0.15952	T	0.53	-0.0437	12.2415	0.54544	0.0:0.0:0.7926:0.2074	.	162;285;285;285	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	T	285	ENSP00000265748:A285T;ENSP00000379380:A285T	ENSP00000265748:A285T	A	+	1	0	ANLN	36412680	0.149000	0.22717	0.010000	0.14722	0.936000	0.57629	3.623000	0.54224	2.634000	0.89283	0.650000	0.86243	GCC	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000218582.3		+	ENST00000265748.2	Missense_Mutation	SNP	7 : 36446155 - 36446155 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1402	245
RHOH	399	broad.mit.edu	37	4	40245060	40245060	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40245060C>A	ENST00000381799.5	+	3	778	c.54C>A	c.(52-54)acC>acA	p.T18T	RHOH_ENST00000505618.1_Silent_p.T18T	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	NA					negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						TGGGGAAAACCTCTCTGTTGG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													216	166	183			NA	NA	4		NA											NA				40245060		2203	4300	6503	SO:0001819	synonymous_variant			Z35227	CCDS3458.1	4p13	2014-09-17	2012-02-27	2004-03-24	ENSG00000168421	ENSG00000168421	399	399			686	protein-coding gene	gene with protein product		602037	ras homolog gene family, member H	ARHH	NA	7784061	Standard	NM_004310	NM_001278359	NA	Approved	RhoH, TTF	uc003guz.2	Q15669	OTTHUMG00000099373	ENST00000381799.5:c.54C>A	4.37:g.40245060C>A		NA		37	CCDS3458.1																																																																																			RHOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216820.3		+	ENST00000381799.5	Silent	SNP	4 : 40245060 - 40245060 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	384	69
CDRT1	374286	broad.mit.edu	37	17	15522551	15522551	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15522551G>A	ENST00000395906.3	-	1	275	c.276C>T	c.(274-276)atC>atT	p.I92I	RP11-385D13.1_ENST00000455584.2_Intron	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	92										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		TGCTGAGGTCGATCCGGGACC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	136	135			NA	NA	17		NA											NA				15522551		2202	4298	6500	SO:0001819	synonymous_variant			U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322	374286	374286		F-boxes / WD-40 domains, WD repeat domain containing	14379	protein-coding gene	gene with protein product		604596	F-box and WD repeat domain containing 10 pseudogene 1, F-box and WD-40 domain protein 10 pseudogene 1	FBXW10P1	NA	9787083, 11381029	Standard	NM_006382	NM_006382	NA	Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.276C>T	17.37:g.15522551G>A		NA	O43848|O95611	37	CCDS45619.1																																																																																			CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448127.1		-	ENST00000395906.3	Silent	SNP	17 : 15522551 - 15522551 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	853	139
UBE3A	7337	broad.mit.edu	37	15	25605662	25605662	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25605662C>T	ENST00000566215.1	-	9	2146	c.1561G>A	c.(1561-1563)Gct>Act	p.A521T	UBE3A_ENST00000232165.3_Missense_Mutation_p.A541T|UBE3A_ENST00000397954.2_Missense_Mutation_p.A544T|UBE3A_ENST00000428984.2_Missense_Mutation_p.A521T|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Missense_Mutation_p.A521T			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	544					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TTTTCCATAGCGATCATCTCT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	65	68			NA	NA	15		NA											NA				25605662		2202	4300	6502	SO:0001583	missense			AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	7337	7337	6.3.2.19		12496	protein-coding gene	gene with protein product	Angelman syndrome	601623	human papilloma virus E6-associated protein	EPVE6AP, HPVE6A	NA	8221889	Standard	NM_000462	NM_130838	NA	Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000566215.1:c.1561G>A	15.37:g.25605662C>T	ENSP00000457771:p.Ala521Thr	NA	A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	37	CCDS32177.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317246	0.81469	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	5.4	5.4	0.78164	HECT (1);	0.000000	0.85682	D	0.000000	D	0.84174	0.5414	L	0.51853	1.615	0.80722	D	1	D;D	0.67145	0.986;0.996	B;B	0.39738	0.288;0.308	D	0.85027	0.0915	10	0.40728	T	0.16	.	19.1816	0.93625	0.0:1.0:0.0:0.0	.	541;544	Q05086-3;Q05086	.;UBE3A_HUMAN	T	541;541;544;521;521	ENSP00000232165:A541T;ENSP00000381045:A544T;ENSP00000411258:A521T;ENSP00000401265:A521T	ENSP00000232165:A541T	A	-	1	0	UBE3A	23156755	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.927000	0.63440	2.510000	0.84645	0.655000	0.94253	GCT	UBE3A-002	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434202.1		-	ENST00000566215.1	Missense_Mutation	SNP	15 : 25605662 - 25605662 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	195	32
MYLK4	340156	broad.mit.edu	37	6	2685594	2685594	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:2685594C>T	ENST00000274643.7	-	6	823	c.481G>A	c.(481-483)Gcg>Acg	p.A161T	MYLK4_ENST00000268446.5_Missense_Mutation_p.A161T	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	161	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				ATGAGGTTCGCGTGGTCCAGC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													260	195	217			NA	NA	6		NA											NA				2685594		2203	4300	6503	SO:0001583	missense				CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949	340156	340156			27972	protein-coding gene	gene with protein product	caMLCK like				NA		Standard	NM_001012418	NM_001012418	NA	Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.481G>A	6.37:g.2685594C>T	ENSP00000274643:p.Ala161Thr	NA	A2RUC0|Q5TAW2	37	CCDS34330.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724036	0.68959	.	.	ENSG00000145949	ENST00000268446;ENST00000274643	T;T	0.39229	1.09;1.09	5.63	5.63	0.86233	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.170767	0.27451	N	0.019319	T	0.18551	0.0445	N	0.25426	0.745	0.32308	N	0.564091	P	0.40302	0.712	B	0.32465	0.146	T	0.11324	-1.0592	10	0.48119	T	0.1	.	18.6673	0.91495	0.0:1.0:0.0:0.0	.	161	Q86YV6	MYLK4_HUMAN	T	161	ENSP00000268446:A161T;ENSP00000274643:A161T	ENSP00000268446:A161T	A	-	1	0	MYLK4	2630593	1.000000	0.71417	0.953000	0.39169	0.715000	0.41141	4.968000	0.63728	2.649000	0.89929	0.603000	0.83216	GCG	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039632.2		-	ENST00000274643.7	Missense_Mutation	SNP	6 : 2685594 - 2685594 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1020	176
RHBG	57127	broad.mit.edu	37	1	156347099	156347099	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156347099G>T	ENST00000368249.1	+	2	233	c.195G>T	c.(193-195)caG>caT	p.Q65H	RHBG_ENST00000368246.2_Missense_Mutation_p.Q65H|RHBG_ENST00000400992.2_5'UTR|RHBG_ENST00000451864.2_5'UTR|RHBG_ENST00000255013.3_5'UTR|RHBG_ENST00000537040.1_Intron	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	65					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CAGGCTTCCAGGACGTGCATG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	121	120			NA	NA	1		NA											NA				156347099		2202	4300	6502	SO:0001583	missense			AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677	57127	57127		Solute carriers	14572	protein-coding gene	gene with protein product		607079	Rhesus blood group, B glycoprotein		NA	10852913	Standard	NM_001256395	NM_020407	NA	Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.195G>T	1.37:g.156347099G>T	ENSP00000357232:p.Gln65His	NA	A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	37		.	.	.	.	.	.	.	.	.	.	G	23.9	4.469821	0.84533	.	.	ENSG00000132677	ENST00000368249;ENST00000368246	T;T	0.25085	1.82;1.82	4.86	3.87	0.44632	Ammonium transporter AmtB-like (3);	0.055699	0.64402	D	0.000001	T	0.48589	0.1508	M	0.93375	3.41	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.74674	0.983;0.984	T	0.57207	-0.7851	10	0.87932	D	0	-25.444	8.2552	0.31751	0.1884:0.0:0.8116:0.0	.	65;102	Q9H310;Q5SZW5	RHBG_HUMAN;.	H	65	ENSP00000357232:Q65H;ENSP00000357229:Q65H	ENSP00000357229:Q65H	Q	+	3	2	RHBG	154613723	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	4.552000	0.60747	2.512000	0.84698	0.561000	0.74099	CAG	RHBG-001	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000060589.2		+	ENST00000368249.1	Missense_Mutation	SNP	1 : 156347099 - 156347099 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1007	228
ARHGAP20	57569	broad.mit.edu	37	11	110451031	110451031	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110451031C>A	ENST00000529591.1	-	5	1597	c.1268G>T	c.(1267-1269)gGa>gTa	p.G423V	ARHGAP20_ENST00000260283.4_Missense_Mutation_p.G880V|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.G844V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.G844V|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.G854V|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.G854V|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.G857V			Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	880	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		ATCCTCCTCTCCATGCAAGAG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	134	134			NA	NA	11		NA											NA				110451031		2201	4298	6499	SO:0001583	missense			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727	57569	57569		Rho GTPase activating proteins	18357	protein-coding gene	gene with protein product		609568			NA	14532992	Standard	NM_020809	NM_020809	NA	Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000529591.1:c.1268G>T	11.37:g.110451031C>A	ENSP00000437905:p.Gly423Val	NA	A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	37		.	.	.	.	.	.	.	.	.	.	C	13.04	2.118057	0.37339	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.08984	3.03;3.04;3.07;3.03;3.04;3.04;3.04	5.14	2.18	0.27775	.	0.614672	0.15386	N	0.265082	T	0.16599	0.0399	M	0.65975	2.015	0.22001	N	0.999421	D;D;D	0.69078	0.997;0.996;0.997	D;P;D	0.64595	0.927;0.847;0.927	T	0.17837	-1.0356	10	0.27082	T	0.32	.	1.1436	0.01770	0.1462:0.3626:0.1419:0.3493	.	854;880;857	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	V	880;854;423;857;844;854;844	ENSP00000260283:G880V;ENSP00000349660:G854V;ENSP00000437905:G423V;ENSP00000432076:G857V;ENSP00000436319:G844V;ENSP00000436522:G854V;ENSP00000431399:G844V	ENSP00000260283:G880V	G	-	2	0	ARHGAP20	109956241	0.065000	0.20965	0.069000	0.20011	0.962000	0.63368	0.363000	0.20301	0.304000	0.22809	-1.105000	0.02106	GGA	ARHGAP20-006	KNOWN	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000390629.2		-	ENST00000529591.1	Missense_Mutation	SNP	11 : 110451031 - 110451031 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	866	178
TTN	7273	broad.mit.edu	37	2	179465822	179465822	+	Silent	SNP	C	C	T	rs35647804		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179465822C>T	ENST00000589042.1	-	288	56033	c.55809G>A	c.(55807-55809)ccG>ccA	p.P18603P	TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.P16035P|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.P16962P|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.P9730P|TTN_ENST00000359218.5_Silent_p.P9663P|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Silent_p.P9538P|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16962	Fibronectin type-III 34.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCATTCTTCGGGGGTTTCC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	67	67			NA	NA	2		NA											NA				179465822		1888	4119	6007	SO:0001819	synonymous_variant			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.55809G>A	2.37:g.179465822C>T		NA	E7ET18	37	CCDS59435.1																																																																																			TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Silent	SNP	2 : 179465822 - 179465822 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	503	88
OR7G3	390883	broad.mit.edu	37	19	9237060	9237060	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9237060A>G	ENST00000305444.2	-	1	566	c.567T>C	c.(565-567)tgT>tgC	p.C189C		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GGACATCAGAACAGGCGAGCT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	71	71			NA	NA	19		NA											NA				9237060		2203	4300	6503	SO:0001819	synonymous_variant				CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920	390883	390883		GPCR / Class A : Olfactory receptors	8467	protein-coding gene	gene with protein product					NA		Standard		NM_001001958	NA	Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.567T>C	19.37:g.9237060A>G		NA	Q6IFJ6|Q96R99	37	CCDS32899.1																																																																																			OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384611.1		-	ENST00000305444.2	Silent	SNP	19 : 9237060 - 9237060 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	78
BEGAIN	57596	broad.mit.edu	37	14	101005511	101005511	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:101005511C>T	ENST00000556751.1	-	5	3789	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	BEGAIN_ENST00000355173.2_Missense_Mutation_p.A193T|CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000443071.2_Missense_Mutation_p.A193T			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	193						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GACAGGCTGGCGGGGTCCGGC	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(159;1889 2010 9965 27479 40101)							NA				0													16	20	19			NA	NA	14		NA											NA				101005511		2193	4295	6488	SO:0001583	missense			BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092	57596	57596			24163	protein-coding gene	gene with protein product			brain-enriched guanylate kinase-associated homolog (rat)		NA	10819331	Standard	NM_020836	NM_020836	NA	Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000556751.1:c.385G>A	14.37:g.101005511C>T	ENSP00000451380:p.Ala129Thr	NA	Q9NPU3|Q9P282	37		.	.	.	.	.	.	.	.	.	.	C	0.009	-1.848007	0.00568	.	.	ENSG00000183092	ENST00000355173;ENST00000556751;ENST00000443071;ENST00000553553;ENST00000556188;ENST00000554356	T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97	3.97	-2.36	0.06663	.	1.172930	0.05986	N	0.645139	T	0.11367	0.0277	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38156	-0.9674	10	0.06891	T	0.86	.	9.0452	0.36343	0.0:0.4358:0.1:0.4642	.	193	Q9BUH8	BEGIN_HUMAN	T	193;129;193;205;193;129	ENSP00000347301:A193T;ENSP00000451380:A129T;ENSP00000411124:A193T;ENSP00000451397:A205T;ENSP00000452157:A193T;ENSP00000452607:A129T	ENSP00000347301:A193T	A	-	1	0	BEGAIN	100075264	0.000000	0.05858	0.008000	0.14137	0.019000	0.09904	-0.207000	0.09384	-0.795000	0.04462	-3.145000	0.00059	GCC	BEGAIN-002	PUTATIVE	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000414330.1		-	ENST00000556751.1	Missense_Mutation	SNP	14 : 101005511 - 101005511 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	166	11
NPR3	4883	broad.mit.edu	37	5	32712326	32712326	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32712326G>A	ENST00000265074.8	+	1	787	c.444G>A	c.(442-444)tcG>tcA	p.S148S	NPR3_ENST00000415685.2_Intron|NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415167.2_Silent_p.S148S	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	148					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GGCTTGCATCGCACTGGGACC	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	50	48			NA	NA	5		NA											NA				32712326		1990	4121	6111	SO:0001819	synonymous_variant				CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389	4883	4883			7945	protein-coding gene	gene with protein product	guanylate cyclase C	108962	chromosome 5 open reading frame 23, atrionatriuretic peptide receptor C, natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C), natriuretic peptide receptor C	NPRC, ANPRC, C5orf23	NA	2162522, 1979052	Standard	NM_000908	NM_000908	NA	Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.444G>A	5.37:g.32712326G>A		NA	A2RRD1	37	CCDS56357.1																																																																																			NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317550.3		+	ENST00000265074.8	Silent	SNP	5 : 32712326 - 32712326 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	663	104
ETV6	2120	broad.mit.edu	37	12	12022779	12022779	+	Silent	SNP	C	C	T	rs140005721	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12022779C>T	ENST00000396373.4	+	5	1159	c.885C>T	c.(883-885)gaC>gaT	p.D295D		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	295						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				TCTCCGAGGACGGGCTGCATA	0.592		NA	T	NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5	congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		12	12p13	2120	ets variant gene 6 (TEL oncogene)		L, E, M	0								C		0,4406		0,0,2203	90	90	90		885	2.4	1	12	dbSNP_134	90	10,8590	6.4+/-24.3	0,10,4290	no	coding-synonymous	ETV6	NM_001987.4		0,10,6493	TT,TC,CC	NA	0.1163,0.0,0.0769		295/453	12022779	10,12996	2203	4300	6503	SO:0001819	synonymous_variant			BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083	2120	2120			3495	protein-coding gene	gene with protein product	TEL oncogene	600618	ets variant gene 6 (TEL oncogene)		NA	7731705	Standard	NM_001987	NM_001987	NA	Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.885C>T	12.37:g.12022779C>T		NA	A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	37	CCDS8643.1																																																																																			ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400130.2		+	ENST00000396373.4	Silent	SNP	12 : 12022779 - 12022779 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	659	86
JAG1	182	broad.mit.edu	37	20	10620604	10620604	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:10620604C>A	ENST00000254958.5	-	26	3715		c.e26-1		JAG1_ENST00000423891.2_Splice_Site	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	NA					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ACAAGGAAATCTGTAAGGCAG	0.488		NA							Alagille Syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	26	28			NA	NA	20		NA											NA				10620604		2203	4300	6503	SO:0001630	splice_region_variant	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384	182	182		CD molecules	6188	protein-coding gene	gene with protein product		601920	Alagille syndrome	AGS, JAGL1	NA	7697721, 9207788	Standard	NM_000214	NM_000214	NA	Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.3200-1G>T	20.37:g.10620604C>A		NA	A0AV43|O14902|O15122|Q15816	37	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.094210	0.56075	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0887	0.97806	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	JAG1	10568604	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.445000	0.80570	2.825000	0.97269	0.655000	0.94253	.	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding		Intron	-	ENST00000254958.5	Splice_Site	SNP	20 : 10620604 - 10620604 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	168	28
FCER1A	2205	broad.mit.edu	37	1	159273844	159273844	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159273844G>A	ENST00000368115.1	+	4	302	c.203G>A	c.(202-204)gGc>gAc	p.G68D	FCER1A_ENST00000368114.1_Missense_Mutation_p.G35D	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	68	Ig-like 1.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TTCCACAATGGCAGCCTTTCA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	72	73			NA	NA	1		NA											NA				159273844		2203	4300	6503	SO:0001583	missense			BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639	2205	2205		Immunoglobulin superfamily / Immunoglobulin-like domain containing	3609	protein-coding gene	gene with protein product		147140		FCE1A	NA	8245459	Standard	NM_002001	NM_002001	NA	Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.203G>A	1.37:g.159273844G>A	ENSP00000357097:p.Gly68Asp	NA		37	CCDS1184.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328005	0.24080	.	.	ENSG00000179639	ENST00000368115;ENST00000368114	T;T	0.12255	2.7;2.7	4.7	-5.08	0.02929	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.517714	0.17599	N	0.168482	T	0.03827	0.0108	L	0.49513	1.565	0.09310	N	1	B	0.12013	0.005	B	0.13407	0.009	T	0.38178	-0.9673	10	0.36615	T	0.2	.	11.939	0.52890	0.5089:0.0:0.4911:0.0	.	68	P12319	FCERA_HUMAN	D	68;35	ENSP00000357097:G68D;ENSP00000357096:G35D	ENSP00000357096:G35D	G	+	2	0	FCER1A	157540468	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	-0.513000	0.06305	-0.927000	0.03766	-0.219000	0.12488	GGC	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090328.2		+	ENST00000368115.1	Missense_Mutation	SNP	1 : 159273844 - 159273844 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	512	86
PI15	51050	broad.mit.edu	37	8	75756308	75756308	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:75756308C>T	ENST00000260113.2	+	3	545	c.366C>T	c.(364-366)ggC>ggT	p.G122G	PI15_ENST00000523773.1_Silent_p.G122G|RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	122						extracellular region	peptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GATTTTTGGGCCAAAATCTAT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	158	159			NA	NA	8		NA											NA				75756308		2203	4300	6503	SO:0001819	synonymous_variant			D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558	51050	51050			8946	protein-coding gene	gene with protein product		607076	protease inhibitor 15		NA	8882727, 9473672	Standard	NM_015886	XM_005251255	NA	Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.366C>T	8.37:g.75756308C>T		NA	Q68CY1	37	CCDS6218.1																																																																																			PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379115.1		+	ENST00000260113.2	Silent	SNP	8 : 75756308 - 75756308 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1084	157
SUV39H2	79723	broad.mit.edu	37	10	14939493	14939493	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:14939493T>G	ENST00000313519.5	+	2	877	c.646T>G	c.(646-648)Ttt>Gtt	p.F216V	DCLRE1C_ENST00000378289.4_3'UTR|SUV39H2_ENST00000378325.3_Intron|SUV39H2_ENST00000354919.6_Missense_Mutation_p.F276V	NM_001193425.1|NM_024670.3	NP_001180354.1|NP_078946.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	276	Pre-SET.				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						AAGAATGAGTTTTGTCATGGA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	66	67			NA	NA	10		NA											NA				14939493		2203	4300	6503	SO:0001583	missense			AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455	79723	79723		Chromatin-modifying enzymes / K-methyltransferases	17287	protein-coding gene	gene with protein product		606503			NA	11094092	Standard	NM_024670	NM_001193424	NA	Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000313519.5:c.646T>G	10.37:g.14939493T>G	ENSP00000319208:p.Phe216Val	NA	D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	37	CCDS7104.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.331871	0.81801	.	.	ENSG00000152455	ENST00000354919;ENST00000313519;ENST00000420416	D;D;D	0.91237	-1.74;-1.74;-2.81	5.86	5.86	0.93980	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.96426	0.8834	M	0.92412	3.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97246	0.9894	10	0.87932	D	0	.	15.7408	0.77894	0.0:0.0:0.0:1.0	.	276	Q9H5I1	SUV92_HUMAN	V	276;216;216	ENSP00000346997:F276V;ENSP00000319208:F216V;ENSP00000392201:F216V	ENSP00000319208:F216V	F	+	1	0	SUV39H2	14979499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.367000	0.80283	0.528000	0.53228	TTT	SUV39H2-008	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046953.2		+	ENST00000313519.5	Missense_Mutation	SNP	10 : 14939493 - 14939493 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	551	111
KIF22	3835	broad.mit.edu	37	16	29809753	29809753	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29809753C>T	ENST00000400751.5	+	3	746	c.121C>T	c.(121-123)Cag>Tag	p.Q41*	KIF22_ENST00000160827.4_Nonsense_Mutation_p.Q109*|KIF22_ENST00000569382.2_Nonsense_Mutation_p.Q41*|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000561482.1_Nonsense_Mutation_p.Q41*			Q14807	KIF22_HUMAN	kinesin family member 22	109	Kinesin-motor.				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						AGGTTCAGTGCAGCCCATCCT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	123	129			NA	NA	16		NA											NA				29809753		2197	4300	6497	SO:0001587	stop_gained			D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616	3835	3835		Kinesins	6391	protein-coding gene	gene with protein product		603213	kinesin-like 4	KNSL4	NA	8599929, 11416179	Standard		NM_007317	NA	Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000400751.5:c.121C>T	16.37:g.29809753C>T	ENSP00000383562:p.Gln41*	NA	B2R5M0|O60845|O94814|Q53F58|Q9BT46	37	CCDS58444.1	.	.	.	.	.	.	.	.	.	.	C	40	8.235056	0.98719	.	.	ENSG00000079616	ENST00000160827;ENST00000400751	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	11.1845	0.48648	0.0:0.917:0.0:0.083	.	.	.	.	X	109;41	.	ENSP00000160827:Q109X	Q	+	1	0	KIF22	29717254	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.063000	0.57499	2.819000	0.97034	0.655000	0.94253	CAG	KIF22-002	PUTATIVE	alternative_5_UTR|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000435528.1		+	ENST00000400751.5	Nonsense_Mutation	SNP	16 : 29809753 - 29809753 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	539	104
CYP7A1	1581	broad.mit.edu	37	8	59404294	59404294	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:59404294T>C	ENST00000301645.3	-	6	1392	c.1255A>G	c.(1255-1257)Aca>Gca	p.T419A		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	419					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GTAGTCTTTGTCTTCCCGTTT	0.343		NA							Neonatal Giant Cell Hepatitis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	112	109			NA	NA	8		NA											NA				59404294		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Neonatal Hemochromatosis	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1581	1581	1.14.13.17	Cytochrome P450s	2651	protein-coding gene	gene with protein product	cholesterol 7 alpha-monooxygenase	118455	cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1	CYP7	NA	1358792	Standard	NM_000780	NM_000780	NA	Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.1255A>G	8.37:g.59404294T>C	ENSP00000301645:p.Thr419Ala	NA	P78454|Q3MIL8|Q7KZ19	37	CCDS6171.1	.	.	.	.	.	.	.	.	.	.	T	11.92	1.783800	0.31593	.	.	ENSG00000167910	ENST00000301645	T	0.60040	0.22	5.76	-1.34	0.09143	.	0.298471	0.40469	N	0.001089	T	0.27866	0.0686	N	0.11201	0.11	0.26376	N	0.976803	B	0.02656	0.0	B	0.01281	0.0	T	0.18461	-1.0336	10	0.12430	T	0.62	-3.4054	6.8926	0.24238	0.0:0.4527:0.2615:0.2858	.	419	P22680	CP7A1_HUMAN	A	419	ENSP00000301645:T419A	ENSP00000301645:T419A	T	-	1	0	CYP7A1	59566848	1.000000	0.71417	0.993000	0.49108	0.954000	0.61252	2.557000	0.45871	-0.052000	0.13311	0.533000	0.62120	ACA	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378190.1		-	ENST00000301645.3	Missense_Mutation	SNP	8 : 59404294 - 59404294 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	722	142
KIDINS220	57498	broad.mit.edu	37	2	8926341	8926341	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8926341G>T	ENST00000256707.3	-	16	2115	c.1934C>A	c.(1933-1935)aCt>aAt	p.T645N	KIDINS220_ENST00000473731.1_Missense_Mutation_p.T645N|KIDINS220_ENST00000418530.1_Missense_Mutation_p.T603N|KIDINS220_ENST00000319688.5_Missense_Mutation_p.T646N|KIDINS220_ENST00000427284.1_Missense_Mutation_p.T645N	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	645	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCTACCCTGAGTATCTTCAGT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	110	112			NA	NA	2		NA											NA				8926341		1860	4103	5963	SO:0001583	missense			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313	57498	57498		Ankyrin repeat domain containing	29508	protein-coding gene	gene with protein product	ankyrin repeat-rich membrane-spanning protein	615759			NA	10998417, 10574462	Standard	NM_020738	NM_020738	NA	Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1934C>A	2.37:g.8926341G>T	ENSP00000256707:p.Thr645Asn	NA	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	37	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554050	0.45487	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51	5.96	5.07	0.68467	KAP P-loop (1);	0.483087	0.25283	N	0.031782	T	0.32763	0.0840	L	0.34521	1.04	0.19300	N	0.999978	B;B;B;B	0.18610	0.029;0.025;0.02;0.025	B;B;B;B	0.34779	0.081;0.189;0.095;0.121	T	0.35400	-0.9790	10	0.51188	T	0.08	.	17.024	0.86440	0.0:0.1274:0.8726:0.0	.	646;646;603;645	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	N	392;329;645;645;603;645;646;646	ENSP00000420364:T392N;ENSP00000256707:T645N;ENSP00000411849:T645N;ENSP00000414923:T603N;ENSP00000418974:T645N;ENSP00000419964:T646N;ENSP00000319947:T646N	ENSP00000256707:T645N	T	-	2	0	KIDINS220	8843792	0.989000	0.36119	0.077000	0.20336	0.960000	0.62799	5.320000	0.65841	1.488000	0.48433	0.655000	0.94253	ACT	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323408.2		-	ENST00000256707.3	Missense_Mutation	SNP	2 : 8926341 - 8926341 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	841	201
RIMKLB	57494	broad.mit.edu	37	12	8926260	8926260	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8926260T>G	ENST00000538135.1	+	6	1866	c.1041T>G	c.(1039-1041)agT>agG	p.S347R	RIMKLB_ENST00000299673.5_Intron|RIMKLB_ENST00000357529.3_Missense_Mutation_p.S347R|RIMKLB_ENST00000535829.1_Missense_Mutation_p.S347R			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	347					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TGAGTGCAAGTTCCAGCTCTG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	88	88			NA	NA	12		NA											NA				8926260		1952	4140	6092	SO:0001583	missense			AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	57494	57494	6.3.2.N6		29228	protein-coding gene	gene with protein product	N-acetylaspartyl-glutamate synthetase	614054	family with sequence similarity 80, member B	FAM80B	NA	10574462, 20643647	Standard	NM_020734	XM_006719116	NA	Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.1041T>G	12.37:g.8926260T>G	ENSP00000440943:p.Ser347Arg	NA	B7Z834|D3DUV2|Q8N4P4|Q8WTW6	37	CCDS41748.1	.	.	.	.	.	.	.	.	.	.	T	12.49	1.954709	0.34471	.	.	ENSG00000166532	ENST00000535829;ENST00000357529;ENST00000538135	.	.	.	5.72	3.05	0.35203	.	0.052881	0.85682	U	0.000000	T	0.26629	0.0651	N	0.24115	0.695	0.46954	D	0.999268	P	0.50943	0.94	B	0.38655	0.278	T	0.02533	-1.1145	8	.	.	.	.	6.479	0.22053	0.0:0.3151:0.0:0.6849	.	347	Q9ULI2	RIMKB_HUMAN	R	347	.	.	S	+	3	2	RIMKLB	8817527	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.199000	0.32235	0.996000	0.38943	0.482000	0.46254	AGT	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398874.1		+	ENST00000538135.1	Missense_Mutation	SNP	12 : 8926260 - 8926260 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	746	144
GPR155	151556	broad.mit.edu	37	2	175300962	175300962	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:175300962C>T	ENST00000392552.2	-	16	2733	c.2495G>A	c.(2494-2496)aGa>aAa	p.R832K	GPR155_ENST00000295500.4_Missense_Mutation_p.R832K|GPR155_ENST00000392551.2_Missense_Mutation_p.R832K	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	832	DEP.				intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TTGAAGAAATCTGTAAAACAA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	146	144			NA	NA	2		NA											NA				175300962		2203	4300	6503	SO:0001583	missense			AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328	151556	151556			22951	protein-coding gene	gene with protein product					NA	12679517	Standard	NM_152529	NM_001033045	NA	Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.2495G>A	2.37:g.175300962C>T	ENSP00000376335:p.Arg832Lys	NA	B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	37	CCDS2259.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500226	0.85176	.	.	ENSG00000163328	ENST00000392552;ENST00000392551;ENST00000295500	T;T;T	0.26518	1.73;1.73;1.73	6.17	6.17	0.99709	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.107097	0.64402	D	0.000005	T	0.48333	0.1494	M	0.78223	2.4	0.58432	D	0.999997	D	0.58268	0.982	P	0.54401	0.751	T	0.23655	-1.0182	10	0.35671	T	0.21	-20.6633	20.8794	0.99867	0.0:1.0:0.0:0.0	.	832	Q7Z3F1	GP155_HUMAN	K	832	ENSP00000376335:R832K;ENSP00000376334:R832K;ENSP00000295500:R832K	ENSP00000295500:R832K	R	-	2	0	GPR155	175009208	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.623000	0.74238	2.941000	0.99782	0.655000	0.94253	AGA	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255455.1		-	ENST00000392552.2	Missense_Mutation	SNP	2 : 175300962 - 175300962 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	826	169
CACNA1I	8911	broad.mit.edu	37	22	40036947	40036947	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40036947G>A	ENST00000402142.3	+	6	816	c.816G>A	c.(814-816)tcG>tcA	p.S272S	CACNA1I_ENST00000404898.1_Silent_p.S272S|CACNA1I_ENST00000407673.1_Silent_p.S272S|CACNA1I_ENST00000401624.1_Silent_p.S272S|CACNA1I_ENST00000400164.3_Silent_p.S272S|CACNA1I_ENST00000336649.4_Silent_p.S272S	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	272					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GCTCCCTGTCGGGCGACAATG	0.612		NA											G	1	5e-04	NA	NA	2184	NA	0.9999	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.9049	LOWCOV	NA	NA	5e-04	SNP								NA				0								G	,	1,4181		0,1,2090	49	54	52		816,816	-3.2	1	22		52	18,8410		0,18,4196	no	coding-synonymous,coding-synonymous	CACNA1I	NM_001003406.1,NM_021096.3	,	0,19,6286	AA,AG,GG	NA	0.2136,0.0239,0.1507	,	272/2189,272/2224	40036947	19,12591	2091	4214	6305	SO:0001819	synonymous_variant			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346	8911	8911		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1396	protein-coding gene	gene with protein product		608230			NA	10454147, 16382099	Standard	NM_001003406	NM_021096	NA	Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.816G>A	22.37:g.40036947G>A		NA	B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	37	CCDS46710.1																																																																																			CACNA1I-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321290.1		+	ENST00000402142.3	Silent	SNP	22 : 40036947 - 40036947 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	177	16
KLF6	1316	broad.mit.edu	37	10	3823892	3823892	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:3823892C>T	ENST00000497571.1	-	2	877	c.617G>A	c.(616-618)gGc>gAc	p.G206D	KLF6_ENST00000173785.4_Intron|KLF6_ENST00000542957.1_Missense_Mutation_p.G206D|KLF6_ENST00000469435.1_Missense_Mutation_p.G206D	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	206					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		TTTCCTGCAGCCGTTAAAGTG	0.657		NA									OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	57	60			NA	NA	10		NA											NA				3823892		2203	4300	6503	SO:0001583	missense			U51869	CCDS7060.1, CCDS53490.1	10p15	2013-01-08	2004-11-29	2004-12-01	ENSG00000067082	ENSG00000067082	1316	1316		Kruppel-like transcription factors, Zinc fingers, C2H2-type	2235	protein-coding gene	gene with protein product	GC-rich binding factor	602053	core promoter element binding protein	BCD1, ST12, COPEB	NA	9503030, 9685731	Standard		NM_001300	NA	Approved	CPBP, GBF, Zf9, PAC1	uc001iha.3	Q99612	OTTHUMG00000017567	ENST00000497571.1:c.617G>A	10.37:g.3823892C>T	ENSP00000419923:p.Gly206Asp	614	B2RE86|B4DDN0|D3DRR1|Q5VUT7|Q5VUT8|Q9BT79	37	CCDS7060.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497189	0.85069	.	.	ENSG00000067082	ENST00000497571;ENST00000542957;ENST00000469435	T;T;T	0.76839	1.31;-1.05;-1.05	4.78	4.78	0.61160	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.80670	0.4667	N	0.19112	0.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.99	D;D;P	0.97110	1.0;1.0;0.757	D	0.83488	0.0068	10	0.56958	D	0.05	.	16.8146	0.85730	0.0:1.0:0.0:0.0	.	206;206;206	F5H3M5;Q99612-2;Q99612	.;.;KLF6_HUMAN	D	206	ENSP00000419923:G206D;ENSP00000445301:G206D;ENSP00000419079:G206D	ENSP00000419079:G206D	G	-	2	0	KLF6	3813892	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.711000	0.84669	2.194000	0.70268	0.462000	0.41574	GGC	KLF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046495.1		-	ENST00000497571.1	Missense_Mutation	SNP	10 : 3823892 - 3823892 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	385	70
HUS1	3364	broad.mit.edu	37	7	48018022	48018022	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48018022C>T	ENST00000258774.5	-	3	372	c.349G>A	c.(349-351)Gtg>Atg	p.V117M	HUS1_ENST00000432325.1_Missense_Mutation_p.V96M	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	117					DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				ACCAGCTCCACGGAGACCGTG	0.443		NA						Direct reversal of damage;Other conserved DNA damage response genes						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(103;466 1517 21788 34610 43890)							NA				0													71	66	68			NA	NA	7		NA											NA				48018022		2203	4300	6503	SO:0001583	missense			Y16893	CCDS34635.1	7p13-p12	2008-08-08	2001-11-28		ENSG00000136273	ENSG00000136273	3364	3364			5309	protein-coding gene	gene with protein product	hus1+-like protein	603760	HUS1 (S. pombe) checkpoint homolog		NA	9878245, 9524127	Standard	NM_004507	NM_004507	NA	Approved		uc003tod.2	O60921	OTTHUMG00000155645	ENST00000258774.5:c.349G>A	7.37:g.48018022C>T	ENSP00000258774:p.Val117Met	NA		37	CCDS34635.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757039	0.49468	.	.	ENSG00000136273	ENST00000258774;ENST00000432325;ENST00000432627;ENST00000446009	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	5.31	-0.114	0.13564	.	0.364925	0.30869	N	0.008711	T	0.15392	0.0371	M	0.69823	2.125	0.23598	N	0.997329	D	0.56287	0.975	P	0.53760	0.734	T	0.22941	-1.0202	10	0.14252	T	0.57	-8.5017	5.1699	0.15105	0.0:0.4099:0.2794:0.3107	.	117	O60921	HUS1_HUMAN	M	117;96;96;96	ENSP00000258774:V117M;ENSP00000416588:V96M;ENSP00000404855:V96M;ENSP00000398806:V96M	ENSP00000258774:V117M	V	-	1	0	HUS1	47984547	0.981000	0.34729	0.011000	0.14972	0.489000	0.33432	2.449000	0.44935	-0.345000	0.08325	0.655000	0.94253	GTG	HUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340952.1		-	ENST00000258774.5	Missense_Mutation	SNP	7 : 48018022 - 48018022 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	55
NCOA6	23054	broad.mit.edu	37	20	33330933	33330933	+	Missense_Mutation	SNP	G	G	A	rs142432255		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33330933G>A	ENST00000374796.2	-	12	5697	c.3127C>T	c.(3127-3129)Ccc>Tcc	p.P1043S	NCOA6_ENST00000359003.2_Missense_Mutation_p.P1043S			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1043	CREBBP-binding region.|NCOA1-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ACTGATTTGGGATCCTGCTGC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	128	130			NA	NA	20		NA											NA				33330933		2203	4300	6503	SO:0001583	missense			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646	23054	23054			15936	protein-coding gene	gene with protein product	nuclear receptor coactivator RAP250, activating signal cointegrator-2, peroxisome proliferator-activated receptor interacting protein	605299			NA	8724849, 8263591	Standard	NM_014071	NM_014071	NA	Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.3127C>T	20.37:g.33330933G>A	ENSP00000363929:p.Pro1043Ser	NA	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	37	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.451681	0.26074	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.23348	1.91;1.91	5.82	5.82	0.92795	.	0.202921	0.35407	N	0.003237	T	0.14056	0.0340	N	0.08118	0	0.40692	D	0.982402	B	0.14805	0.011	B	0.10450	0.005	T	0.09618	-1.0666	10	0.38643	T	0.18	-6.5654	11.5343	0.50628	0.0691:0.1266:0.8043:0.0	.	1043	Q14686	NCOA6_HUMAN	S	1043	ENSP00000363929:P1043S;ENSP00000351894:P1043S	ENSP00000351894:P1043S	P	-	1	0	NCOA6	32794594	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.148000	0.58085	2.756000	0.94617	0.563000	0.77884	CCC	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078811.2		-	ENST00000374796.2	Missense_Mutation	SNP	20 : 33330933 - 33330933 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	822	22
ZNF619	285267	broad.mit.edu	37	3	40529531	40529531	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40529531C>T	ENST00000314686.5	+	6	1887	c.1482C>T	c.(1480-1482)tgC>tgT	p.C494C	ZNF619_ENST00000456778.1_Silent_p.C466C|ZNF619_ENST00000447116.2_Silent_p.C550C|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000521353.1_Silent_p.C550C|ZNF619_ENST00000429348.2_Silent_p.C510C|ZNF619_ENST00000432264.2_Silent_p.C510C|ZNF619_ENST00000522736.1_Silent_p.C501C			E9PCD9	E9PCD9_HUMAN	zinc finger protein 619	550					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AACATACCTGCTCTGCCCTAG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	102	117			NA	NA	3		NA											NA				40529531		2203	4300	6503	SO:0001819	synonymous_variant			AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873	285267	285267		Zinc fingers, C2H2-type, -	26910	protein-coding gene	gene with protein product					NA		Standard	NM_173656	NM_001145083	NA	Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.1482C>T	3.37:g.40529531C>T		NA		37																																																																																				ZNF619-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000254180.2		+	ENST00000314686.5	Silent	SNP	3 : 40529531 - 40529531 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	350	56
ZNF383	163087	broad.mit.edu	37	19	37734149	37734149	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37734149C>T	ENST00000589413.1	+	8	1594	c.1011C>T	c.(1009-1011)ccC>ccT	p.P337P	ZNF383_ENST00000590503.1_Silent_p.P337P|ZNF383_ENST00000352998.3_Silent_p.P337P			Q8NA42	ZN383_HUMAN	zinc finger protein 383	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGAGAAACCCTATGAGTGCA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	86	85			NA	NA	19		NA											NA				37734149		2203	4300	6503	SO:0001819	synonymous_variant			AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283	163087	163087		Zinc fingers, C2H2-type, -	18609	protein-coding gene	gene with protein product					NA		Standard	NM_152604	NM_152604	NA	Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.1011C>T	19.37:g.37734149C>T		NA	Q6X2C7	37	CCDS12501.1																																																																																			ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458141.1		+	ENST00000589413.1	Silent	SNP	19 : 37734149 - 37734149 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	541	92
OSGEP	55644	broad.mit.edu	37	14	20916132	20916132	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20916132C>T	ENST00000555656.1	-	4	2144	c.127G>A	c.(127-129)Gta>Ata	p.V43I	OSGEP_ENST00000554249.1_Missense_Mutation_p.V60I|OSGEP_ENST00000206542.4_Missense_Mutation_p.V242I			Q9NPF4	OSGEP_HUMAN	O-sialoglycoprotein endopeptidase	242					proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		GTGATCTCTACCAGCATTGCA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	115	113			NA	NA	14		NA											NA				20916132		2203	4300	6503	SO:0001583	missense			AB050442	CCDS9549.1	14q12	2010-03-19			ENSG00000092094	ENSG00000092094	55644	55644	3.4.24.57		18028	protein-coding gene	gene with protein product		610107			NA	12039036	Standard	NM_017807	NM_017807	NA	Approved	PRSMG1, GCPL1, OSGEP1, KAE1	uc001vxf.3	Q9NPF4	OTTHUMG00000029543	ENST00000555656.1:c.127G>A	14.37:g.20916132C>T	ENSP00000451784:p.Val43Ile	NA	Q6IAC3	37		.	.	.	.	.	.	.	.	.	.	C	16.06	3.016385	0.54468	.	.	ENSG00000092094	ENST00000555656;ENST00000206542;ENST00000554249;ENST00000555223;ENST00000555785	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	4.71	4.71	0.59529	Peptidase M22, glycoprotease (1);	0.058863	0.64402	D	0.000003	T	0.44993	0.1320	L	0.48986	1.54	0.80722	D	1	B	0.19331	0.035	B	0.33690	0.168	T	0.42666	-0.9438	10	0.45353	T	0.12	-6.2207	16.4221	0.83766	0.0:1.0:0.0:0.0	.	242	Q9NPF4	OSGEP_HUMAN	I	43;242;60;60;43	ENSP00000451784:V43I;ENSP00000206542:V242I;ENSP00000451548:V60I;ENSP00000450464:V60I;ENSP00000451787:V43I	ENSP00000206542:V242I	V	-	1	0	OSGEP	19985972	1.000000	0.71417	0.999000	0.59377	0.499000	0.33736	7.292000	0.78731	2.141000	0.66446	0.455000	0.32223	GTA	OSGEP-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000411041.1		-	ENST00000555656.1	Missense_Mutation	SNP	14 : 20916132 - 20916132 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	632	59
FKBP1A	2280	broad.mit.edu	37	20	1352850	1352850	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1352850G>T	ENST00000400137.4	-	4	396	c.233C>A	c.(232-234)tCt>tAt	p.S78Y	FKBP1A_ENST00000381724.3_Missense_Mutation_p.S73Y|SDCBP2-AS1_ENST00000446423.1_RNA|FKBP1A_ENST00000381719.3_Missense_Mutation_p.S78Y|SDCBP2-AS1_ENST00000609285.1_RNA|FKBP1A_ENST00000439640.2_Missense_Mutation_p.S62Y|SDCBP2-AS1_ENST00000609470.1_RNA|FKBP1A_ENST00000381715.1_Missense_Mutation_p.S73Y	NM_000801.4	NP_000792.1	P62942	FKB1A_HUMAN	FK506 binding protein 1A, 12kDa	78	PPIase FKBP-type.				'de novo' protein folding|beta-amyloid formation|fibril organization|heart trabecula formation|negative regulation of protein phosphatase type 2B activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein binding|positive regulation of protein ubiquitination|protein maturation by protein folding|protein refolding|regulation of activin receptor signaling pathway|regulation of immune response|regulation of ryanodine-sensitive calcium-release channel activity|SMAD protein complex assembly|T cell activation|ventricular cardiac muscle tissue morphogenesis	axon|cytosol|sarcoplasmic reticulum membrane|terminal cisterna	activin binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity|signal transducer activity|SMAD binding|type I transforming growth factor beta receptor binding			central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3					Pimecrolimus(DB00337)|Sirolimus(DB00877)|Tacrolimus(DB00864)	ATAATCTGGAGATATAGTCAG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	63	66			NA	NA	20		NA											NA				1352850		2203	4300	6503	SO:0001583	missense			M92423	CCDS13014.1, CCDS74688.1	20p13	2013-03-20	2002-08-29		ENSG00000088832	ENSG00000088832	2280	2280			3711	protein-coding gene	gene with protein product	calstabin 1	186945	FK506-binding protein 1A (12kD)	FKBP1	NA	1930186	Standard		NM_000801	NA	Approved	FKBP-12, FKBP12, PKC12, PPIASE, FKBP12C	uc002wey.3	P62942	OTTHUMG00000031666	ENST00000400137.4:c.233C>A	20.37:g.1352850G>T	ENSP00000383003:p.Ser78Tyr	NA	D3DVW6|P20071|Q4VC47|Q6FGD9|Q6LEU3|Q9H103|Q9H566	37	CCDS13014.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760296	0.89932	.	.	ENSG00000088832	ENST00000400137;ENST00000381724;ENST00000381719;ENST00000381715;ENST00000439640	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	4.8	4.8	0.61643	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.000000	0.64402	D	0.000015	T	0.65913	0.2737	.	.	.	0.58432	D	0.999998	D;D	0.61080	0.976;0.989	D;D	0.67548	0.937;0.952	T	0.70626	-0.4820	9	0.87932	D	0	.	18.4089	0.90545	0.0:0.0:1.0:0.0	.	62;78	Q1JUQ5;P62942	.;FKB1A_HUMAN	Y	78;73;78;73;62	ENSP00000383003:S78Y;ENSP00000371143:S73Y;ENSP00000371138:S78Y;ENSP00000371134:S73Y;ENSP00000409863:S62Y	ENSP00000371134:S73Y	S	-	2	0	FKBP1A	1300850	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.493000	0.97960	2.661000	0.90470	0.650000	0.86243	TCT	FKBP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077534.2		-	ENST00000400137.4	Missense_Mutation	SNP	20 : 1352850 - 1352850 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	363	62
NYNRIN	57523	broad.mit.edu	37	14	24877717	24877717	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24877717G>T	ENST00000382554.3	+	3	1159	c.841G>T	c.(841-843)Gca>Tca	p.A281S		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	281					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GCAGGAGGCAGCAAACCAGCT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	16	15			NA	NA	14		NA											NA				24877717		2112	4232	6344	SO:0001583	missense			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978	57523	57523			20165	protein-coding gene	gene with protein product	Cousin of GIN1		KIAA1305	KIAA1305	NA	19561090, 17114934	Standard		NM_025081	NA	Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.841G>T	14.37:g.24877717G>T	ENSP00000371994:p.Ala281Ser	NA	Q6P153|Q86TR3|Q9HAC4	37	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	2.693	-0.272766	0.05716	.	.	ENSG00000205978	ENST00000382554	T	0.15718	2.4	4.96	0.915	0.19366	.	5.157060	0.00166	N	0.000013	T	0.12305	0.0299	N	0.24115	0.695	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.21449	-1.0245	10	0.33141	T	0.24	.	3.9295	0.09278	0.276:0.0:0.5574:0.1666	.	281	Q9P2P1	NYNRI_HUMAN	S	281	ENSP00000371994:A281S	ENSP00000371994:A281S	A	+	1	0	NYNRIN	23947557	0.000000	0.05858	0.107000	0.21349	0.066000	0.16364	0.447000	0.21710	0.258000	0.21686	-0.291000	0.09656	GCA	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412939.1		+	ENST00000382554.3	Missense_Mutation	SNP	14 : 24877717 - 24877717 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	159	10
ARF5	381	broad.mit.edu	37	7	127230185	127230185	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127230185G>A	ENST00000000233.5	+	4	478	c.324G>A	c.(322-324)caG>caA	p.Q108Q	GCC1_ENST00000497650.1_Intron	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5	108					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			cervix(2)|kidney(1)|lung(10)|ovary(1)	14						ATGAACTCCAGAAGATGGTGA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	108	107			NA	NA	7		NA											NA				127230185		2203	4300	6503	SO:0001819	synonymous_variant				CCDS34745.1	7q31.3	2008-07-18			ENSG00000004059	ENSG00000004059	381	381		ADP-ribosylation factors	658	protein-coding gene	gene with protein product		103188			NA	1993656	Standard	NM_001662	NM_001662	NA	Approved		uc003vmb.2	P84085	OTTHUMG00000023246	ENST00000000233.5:c.324G>A	7.37:g.127230185G>A		NA	P26437	37	CCDS34745.1																																																																																			ARF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059567.2		+	ENST00000000233.5	Silent	SNP	7 : 127230185 - 127230185 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	486	79
ZMPSTE24	10269	broad.mit.edu	37	1	40747106	40747106	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40747106C>A	ENST00000372759.3	+	7	1026	c.861C>A	c.(859-861)taC>taA	p.Y287*		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	287						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TAGAAGAGTACTCTGTACTAA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	97	97			NA	NA	1		NA											NA				40747106		2203	4300	6503	SO:0001587	stop_gained			Y13834	CCDS449.1	1p34	2014-09-17	2012-12-10		ENSG00000084073	ENSG00000084073	10269	10269	3.4.24.84		12877	protein-coding gene	gene with protein product	Hutchinson-Gilford progeria syndrome, CAAX prenyl protease 1 homolog	606480	zinc metalloproteinase (STE24 homolog, yeast), zinc metallopeptidase (STE24 homolog, yeast), zinc metallopeptidase STE24 homolog (S. cerevisiae)		NA	10373325, 9700155, 16671095	Standard		NM_005857	NA	Approved	FACE-1, Ste24p, STE24, HGPS, PRO1	uc001cfg.4	O75844	OTTHUMG00000005762	ENST00000372759.3:c.861C>A	1.37:g.40747106C>A	ENSP00000361845:p.Tyr287*	NA	B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	37	CCDS449.1	.	.	.	.	.	.	.	.	.	.	C	37	6.521541	0.97633	.	.	ENSG00000084073	ENST00000372759	.	.	.	5.46	3.47	0.39725	.	0.054788	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-34.4102	6.7743	0.23611	0.0:0.5632:0.0:0.4368	.	.	.	.	X	287	.	ENSP00000361845:Y287X	Y	+	3	2	ZMPSTE24	40519693	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.877000	0.39598	0.551000	0.29008	0.655000	0.94253	TAC	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000015766.1		+	ENST00000372759.3	Nonsense_Mutation	SNP	1 : 40747106 - 40747106 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	470	54
STOX2	56977	broad.mit.edu	37	4	184922582	184922582	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184922582C>T	ENST00000308497.4	+	2	1706	c.271C>T	c.(271-273)Cct>Tct	p.P91S	STOX2_ENST00000438269.1_Missense_Mutation_p.P91S	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	91					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GGCAAGAAAGCCTGTCACCCA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	79	80			NA	NA	4		NA											NA				184922582		2062	4220	6282	SO:0001583	missense			AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320	56977	56977			25450	protein-coding gene	gene with protein product					NA		Standard	NM_020225	XM_005263142	NA	Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.271C>T	4.37:g.184922582C>T	ENSP00000311257:p.Pro91Ser	NA	A6H8U4|Q9NPS8	37	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.355539	0.61293	.	.	ENSG00000173320	ENST00000308497;ENST00000438269;ENST00000512520	T;T;T	0.75050	-0.9;-0.9;-0.9	5.93	5.93	0.95920	Storkhead-box protein, winged-helix domain (1);	0.055947	0.64402	D	0.000001	T	0.58623	0.2135	N	0.05124	-0.11	0.80722	D	1	B	0.31705	0.336	B	0.34093	0.175	T	0.56498	-0.7969	9	.	.	.	-16.65	20.3539	0.98825	0.0:1.0:0.0:0.0	.	91	Q9P2F5	STOX2_HUMAN	S	91;91;29	ENSP00000311257:P91S;ENSP00000390127:P91S;ENSP00000425388:P29S	.	P	+	1	0	STOX2	185159576	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.554000	0.45845	2.826000	0.97356	0.655000	0.94253	CCT	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361433.3		+	ENST00000308497.4	Missense_Mutation	SNP	4 : 184922582 - 184922582 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	176	18
OBSCN	84033	broad.mit.edu	37	1	228444434	228444434	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228444434C>T	ENST00000570156.2	+	16	4742	c.4668C>T	c.(4666-4668)tgC>tgT	p.C1556C	OBSCN_ENST00000284548.11_Silent_p.C1464C|OBSCN_ENST00000422127.1_Silent_p.C1464C|OBSCN_ENST00000359599.6_Silent_p.C28C|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	533	Ig-like 16.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CACTCAGCTGCGAGGTGGCTC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	45	45			NA	NA	1		NA											NA				228444434		2042	4171	6213	SO:0001819	synonymous_variant			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358	84033	84033		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	15719	protein-coding gene	gene with protein product		608616			NA	11448995, 11814696	Standard	NM_052843	NM_001098623	NA	Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000570156.2:c.4668C>T	1.37:g.228444434C>T		NA	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	37	CCDS59204.1																																																																																			OBSCN-011	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421354.3		+	ENST00000570156.2	Silent	SNP	1 : 228444434 - 228444434 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	341	14
PGP	283871	broad.mit.edu	37	16	2264203	2264203	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2264203G>A	ENST00000333503.7	-	1	605	c.576C>T	c.(574-576)ggC>ggT	p.G192G		NM_001042371.2	NP_001035830.1	A6NDG6	PGP_HUMAN	phosphoglycolate phosphatase	192					carbohydrate metabolic process		phosphoglycolate phosphatase activity			skin(1)	1						CGAGCAGGCAGCCGGGCTGCT	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(63;906 1080 2092 17773 18795)							NA				0													10	12	12			NA	NA	16		NA											NA				2264203		2043	4147	6190	SO:0001819	synonymous_variant			BC035985	CCDS42104.1	16p13.3	2012-10-02				ENSG00000184207	283871	283871	3.1.3.18		8909	protein-coding gene	gene with protein product		172280			NA		Standard	NM_024118	NM_001042371	NA	Approved		uc002cpk.1	A6NDG6		ENST00000333503.7:c.576C>T	16.37:g.2264203G>A		NA		37	CCDS42104.1																																																																																			PGP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000435095.1		-	ENST00000333503.7	Silent	SNP	16 : 2264203 - 2264203 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	143	19
REST	5978	broad.mit.edu	37	4	57776821	57776821	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57776821T>C	ENST00000309042.7	+	2	331	c.17T>C	c.(16-18)aTg>aCg	p.M6T		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	6					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					ACCCAGGTAATGGGGCAGTCT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	49	52			NA	NA	4		NA											NA				57776821		2203	4300	6503	SO:0001583	missense			U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093	5978	5978			9966	protein-coding gene	gene with protein product		600571			NA	7871435, 7697725	Standard	NM_005612	NM_005612	NA	Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.17T>C	4.37:g.57776821T>C	ENSP00000311816:p.Met6Thr	NA	A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	37	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	T	19.65	3.867927	0.72065	.	.	ENSG00000084093	ENST00000456010;ENST00000309042;ENST00000358605	T	0.09255	3.0	5.79	5.79	0.91817	.	0.160766	0.44688	D	0.000440	T	0.10937	0.0267	L	0.44542	1.39	0.39693	D	0.971072	B;P	0.42827	0.066;0.791	B;B	0.35859	0.068;0.212	T	0.03268	-1.1054	10	0.87932	D	0	-22.3791	14.0692	0.64851	0.0:0.0:0.0:1.0	.	6;6	Q13127-2;Q13127	.;REST_HUMAN	T	6	ENSP00000311816:M6T	ENSP00000311816:M6T	M	+	2	0	REST	57471578	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.670000	0.74467	2.212000	0.71576	0.459000	0.35465	ATG	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250691.2		+	ENST00000309042.7	Missense_Mutation	SNP	4 : 57776821 - 57776821 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	232	51
SMTN	6525	broad.mit.edu	37	22	31484712	31484712	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31484712C>T	ENST00000358743.1	+	5	540	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C	SMTN_ENST00000347557.2_Missense_Mutation_p.R108C|SMTN_ENST00000333137.7_Missense_Mutation_p.R108C	NM_134270.2	NP_599032.2	P53814	SMTN_HUMAN	smoothelin	108					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						GTATGAGGAGCGCAAGCTGAT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	56	60			NA	NA	22		NA											NA				31484712		2201	4300	6501	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.322C>T	22.37:g.31484712C>T	ENSP00000351593:p.Arg108Cys	NA	O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	37	CCDS13887.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.233178|4.233178	0.79688|0.79688	.|.	.|.	ENSG00000183963|ENSG00000183963	ENST00000438223|ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000416786;ENST00000431481	.|T;T;T;T;T	.|0.73152	.|-0.72;-0.72;-0.72;-0.72;-0.72	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	.|0.000000	.|0.38272	.|N	.|0.001743	T|T	0.72835|0.72835	0.3510|0.3510	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.91635	.|0.999;0.999;0.997;0.999;0.999;0.999	T|T	0.71159|0.71159	-0.4674|-0.4674	5|9	.|.	.|.	.|.	-15.9456|-15.9456	13.2377|13.2377	0.59979|0.59979	0.1589:0.8411:0.0:0.0|0.1589:0.8411:0.0:0.0	.|.	.|164;162;100;108;108;108	.|E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5	.|.;.;.;.;SMTN_HUMAN;.	V|C	162|108;108;108;108;100;20;100	.|ENSP00000351593:R108C;ENSP00000328635:R108C;ENSP00000329532:R108C;ENSP00000409990:R20C;ENSP00000394637:R100C	.|.	A|R	+|+	2|1	0|0	SMTN|SMTN	29814712|29814712	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.974000|0.974000	0.67602|0.67602	2.703000|2.703000	0.47110|0.47110	2.384000|2.384000	0.81235|0.81235	0.655000|0.655000	0.94253|0.94253	GCG|CGC	SMTN-003	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321768.1		+	ENST00000358743.1	Missense_Mutation	SNP	22 : 31484712 - 31484712 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	132	30
SYNPO2L	79933	broad.mit.edu	37	10	75408231	75408231	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75408231C>A	ENST00000394810.2	-	4	1328	c.1179G>T	c.(1177-1179)caG>caT	p.Q393H	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.Q169H	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	393						cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GCTGGCGCTGCTGTTCAAAGA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	55	54			NA	NA	10		NA											NA				75408231		2203	4300	6503	SO:0001583	missense			AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317	79933	79933			23532	protein-coding gene	gene with protein product					NA		Standard	NM_024875	XM_005270158	NA	Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.1179G>T	10.37:g.75408231C>A	ENSP00000378289:p.Gln393His	NA	A5PKV9|Q68A20	37	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.648146	0.47258	.	.	ENSG00000166317	ENST00000372873;ENST00000372872;ENST00000394810	T;T;T	0.28069	1.63;2.71;2.71	4.7	4.7	0.59300	.	0.423282	0.23752	N	0.044914	T	0.36358	0.0964	L	0.52573	1.65	0.51012	D	0.999909	B;P	0.40638	0.412;0.725	B;P	0.46940	0.172;0.532	T	0.15464	-1.0436	10	0.66056	D	0.02	-5.8585	11.3228	0.49433	0.0:0.9164:0.0:0.0836	.	393;169	Q9H987;Q9H987-2	SYP2L_HUMAN;.	H	169;393;393	ENSP00000361964:Q169H;ENSP00000361963:Q393H;ENSP00000378289:Q393H	ENSP00000361963:Q393H	Q	-	3	2	SYNPO2L	75078237	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	1.166000	0.31834	2.456000	0.83038	0.491000	0.48974	CAG	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316562.2		-	ENST00000394810.2	Missense_Mutation	SNP	10 : 75408231 - 75408231 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	610	121
CCL1	6346	broad.mit.edu	37	17	32687649	32687649	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32687649C>T	ENST00000225842.3	-	3	289	c.220G>A	c.(220-222)Gcc>Acc	p.A74T		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1	74					cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity				NA		Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		GTGTCCAAGGCGCAGGCCTCT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	109	111			NA	NA	17		NA											NA				32687649		2203	4300	6503	SO:0001583	missense			M57506	CCDS11282.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000108702	ENSG00000108702	6346	6346		Endogenous ligands	10609	protein-coding gene	gene with protein product	inflammatory cytokine I-309, T lymphocyte-secreted protein I-309	182281	small inducible cytokine A1 (I-309, homologous to mouse Tca-3)	SCYA1	NA	2212659, 10409433	Standard	NM_002981	NM_002981	NA	Approved	I-309, TCA3, P500, SISe	uc002hid.1	P22362	OTTHUMG00000132888	ENST00000225842.3:c.220G>A	17.37:g.32687649C>T	ENSP00000225842:p.Ala74Thr	NA	B2R5G9|Q2M309	37	CCDS11282.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444285	0.63178	.	.	ENSG00000108702	ENST00000225842	T	0.07327	3.2	4.38	4.38	0.52667	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.594257	0.15696	N	0.249176	T	0.22166	0.0534	.	.	.	0.19575	N	0.999966	D	0.76494	0.999	D	0.65773	0.938	T	0.01899	-1.1251	9	0.41790	T	0.15	-6.7211	12.7477	0.57289	0.0:1.0:0.0:0.0	.	74	P22362	CCL1_HUMAN	T	74	ENSP00000225842:A74T	ENSP00000225842:A74T	A	-	1	0	CCL1	29711762	0.618000	0.27051	0.233000	0.24025	0.003000	0.03518	2.932000	0.48940	2.719000	0.93026	0.555000	0.69702	GCC	CCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256385.2		-	ENST00000225842.3	Missense_Mutation	SNP	17 : 32687649 - 32687649 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	729	133
TAS2R16	50833	broad.mit.edu	37	7	122635261	122635261	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122635261G>T	ENST00000249284.2	-	1	493	c.428C>A	c.(427-429)cCt>cAt	p.P143H		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	143					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AATAGCTGAAGGGATGATTGT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	135	136			NA	NA	7		NA											NA				122635261		2203	4300	6503	SO:0001583	missense			AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519	50833	50833		Taste receptors / Type 2, GPCR / Unclassified : Taste receptors	14921	protein-coding gene	gene with protein product		604867			NA	10761934	Standard	NM_016945	NM_016945	NA	Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.428C>A	7.37:g.122635261G>T	ENSP00000249284:p.Pro143His	NA	A4D0X2|Q502V3|Q549U8|Q645W1	37	CCDS5785.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.486645	0.44249	.	.	ENSG00000128519	ENST00000249284	T	0.00784	5.7	4.56	0.235	0.15431	.	0.351880	0.24909	N	0.034633	T	0.02380	0.0073	M	0.70595	2.14	0.09310	N	1	D	0.89917	1.0	D	0.71870	0.975	T	0.40040	-0.9584	10	0.59425	D	0.04	.	4.2625	0.10747	0.246:0.0:0.5736:0.1804	.	143	Q9NYV7	T2R16_HUMAN	H	143	ENSP00000249284:P143H	ENSP00000249284:P143H	P	-	2	0	TAS2R16	122422497	0.000000	0.05858	0.001000	0.08648	0.268000	0.26511	-0.035000	0.12205	-0.073000	0.12842	0.655000	0.94253	CCT	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347409.1		-	ENST00000249284.2	Missense_Mutation	SNP	7 : 122635261 - 122635261 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	389	59
KLC1	3831	broad.mit.edu	37	14	104143826	104143826	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:104143826C>T	ENST00000445352.4	+	12	1647	c.1448C>T	c.(1447-1449)aCg>aTg	p.T483M	KLC1_ENST00000246489.7_Missense_Mutation_p.T485M|KLC1_ENST00000553286.1_Missense_Mutation_p.T485M|KLC1_ENST00000557450.1_Missense_Mutation_p.T485M|KLC1_ENST00000555836.1_Missense_Mutation_p.T485M|KLC1_ENST00000348520.6_Missense_Mutation_p.T485M|KLC1_ENST00000554280.1_Missense_Mutation_p.T485M|KLC1_ENST00000389744.4_Missense_Mutation_p.T485M|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.T657M|KLC1_ENST00000334553.6_Missense_Mutation_p.T485M|KLC1_ENST00000380038.3_Missense_Mutation_p.T485M|KLC1_ENST00000557575.1_Missense_Mutation_p.T485M|KLC1_ENST00000347839.6_Missense_Mutation_p.T485M|KLC1_ENST00000452929.2_Missense_Mutation_p.T485M	NM_005552.4	NP_005543.2	Q07866	KLC1_HUMAN	kinesin light chain 1	485					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				GCTGCAGAAACGTTAGAAGAA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	141	143			NA	NA	14		NA											NA				104143826		2203	4300	6503	SO:0001583	missense			AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214	3831	3831		Tetratricopeptide (TTC) repeat domain containing	6387	protein-coding gene	gene with protein product		600025	kinesin 2 60/70kDa, kinesin 2	KNS2	NA	8274221, 11106729	Standard	NM_005552	NM_005552	NA	Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000445352.4:c.1448C>T	14.37:g.104143826C>T	ENSP00000412693:p.Thr483Met	NA	A6NF62|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.0|26.0	4.694657|4.694657	0.88830|0.88830	.|.	.|.	ENSG00000126214|ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000256500	ENST00000553325;ENST00000553436;ENST00000555856|ENST00000348520;ENST00000443396;ENST00000380038;ENST00000389744;ENST00000557575;ENST00000553286;ENST00000347839;ENST00000555836;ENST00000334553;ENST00000246489;ENST00000557450;ENST00000554280;ENST00000452929;ENST00000445352;ENST00000472726	.|T;D;T;T;T;T;T;T;T;D;T;T;D;T	.|0.85258	.|-1.37;-1.85;-1.36;-1.36;-1.36;-1.37;-1.37;-1.36;-1.37;-1.96;-1.37;-1.36;-1.95;-0.62	5.52|5.52	5.52|5.52	0.82312|0.82312	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.|0.090866	.|0.85682	.|D	.|0.000000	D|D	0.92580|0.92580	0.7643|0.7643	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|1.0;0.996;0.999;1.0;0.997	D|D	0.91455|0.91455	0.5184|0.5184	5|10	.|0.42905	.|T	.|0.14	-10.5759|-10.5759	19.7987|19.7987	0.96497|0.96497	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|485;485;657;485;483	.|F8VTM4;F8W6L3;E7EVH7;Q07866;G5E9S8	.|.;.;.;KLC1_HUMAN;.	C|M	65;61;59|485;485;485;485;485;485;485;485;485;485;485;485;485;483;657	.|ENSP00000341154:T485M;ENSP00000369377:T485M;ENSP00000374394:T485M;ENSP00000450617:T485M;ENSP00000452487:T485M;ENSP00000334618:T485M;ENSP00000452481:T485M;ENSP00000334523:T485M;ENSP00000246489:T485M;ENSP00000450648:T485M;ENSP00000451242:T485M;ENSP00000414982:T485M;ENSP00000412693:T483M;ENSP00000439065:T657M	.|ENSP00000246489:T485M	R|T	+|+	1|2	0|0	KLC1|KLC1;RP11-73M18.2	103213579|103213579	1.000000|1.000000	0.71417|0.71417	0.248000|0.248000	0.24265|0.24265	0.816000|0.816000	0.46133|0.46133	7.776000|7.776000	0.85560|0.85560	2.767000|2.767000	0.95098|0.95098	0.655000|0.655000	0.94253|0.94253	CGT|ACG	KLC1-015	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000414871.1		+	ENST00000445352.4	Missense_Mutation	SNP	14 : 104143826 - 104143826 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	560	90
CTD-3222D19.2	0	broad.mit.edu	37	19	16688235	16688235	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16688235G>A	ENST00000409035.1	-	4	690	c.430C>T	c.(430-432)Ctg>Ttg	p.L144L	MED26_ENST00000263390.3_Silent_p.L136L						NA											NA						TGCCCGGGCAGCCTCTGGAGG	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													6	9	8			NA	NA	19		NA											NA				16688235		2070	4030	6100	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000409035.1:c.430C>T	19.37:g.16688235G>A		NA		37																																																																																				CTD-3222D19.2-001	KNOWN	basic|appris_principal|readthrough_transcript|exp_conf	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000461092.1		-	ENST00000409035.1	Silent	SNP	19 : 16688235 - 16688235 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	212	38
MLK4	0	broad.mit.edu	37	1	233514930	233514930	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233514930C>T	ENST00000366624.3	+	9	2439	c.2178C>T	c.(2176-2178)tgC>tgT	p.C726C	MLK4_ENST00000366622.1_Silent_p.C172C	NM_032435.2	NP_115811.2				NA											NA						TGTATGGGTGCACCGTCCTTC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	79	78			NA	NA	1		NA											NA				233514930		2203	4300	6503	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000366624.3:c.2178C>T	1.37:g.233514930C>T		NA		37	CCDS1598.1																																																																																			MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092495.1		+	ENST00000366624.3	Silent	SNP	1 : 233514930 - 233514930 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	487	68
SEC24C	9632	broad.mit.edu	37	10	75526270	75526270	+	Silent	SNP	C	C	T	rs149206620		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75526270C>T	ENST00000339365.2	+	13	1932	c.1770C>T	c.(1768-1770)aaC>aaT	p.N590N	SEC24C_ENST00000345254.4_Silent_p.N590N|SEC24C_ENST00000411652.2_Silent_p.N471N|SEC24C_ENST00000546025.1_3'UTR|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000540668.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	590					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TCCTGGTCAACGTCAATGAGT	0.502		NA											C	1	5e-04	NA	NA	2184	0.0017	0.9999	,	,	NA	3e-04	NA	NA	NA	4e-04	0.8999	EXOME	NA	NA	6e-04	SNP								NA				0								C	,	1,4405	2.1+/-5.4	0,1,2202	84	72	76		1770,1770	-0.2	1	10	dbSNP_134	76	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SEC24C	NM_004922.3,NM_198597.2	,	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	,	590/1095,590/1095	75526270	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986	9632	9632			10705	protein-coding gene	gene with protein product		607185	SEC24 (S. cerevisiae) related gene family, member C, SEC24 family, member C (S. cerevisiae)		NA	10214955, 7584044	Standard		NM_004922	NA	Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.1770C>T	10.37:g.75526270C>T		NA	Q8WV25	37	CCDS7332.1																																																																																			SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048679.1		+	ENST00000339365.2	Silent	SNP	10 : 75526270 - 75526270 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	239	44
ZSCAN4	201516	broad.mit.edu	37	19	58190148	58190148	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58190148G>T	ENST00000318203.5	+	5	1874	c.1177G>T	c.(1177-1179)Gaa>Taa	p.E393*		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	393					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCACACAGGAGAAAAGCCTTA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	127	124			NA	NA	19		NA											NA				58190148		2203	4300	6503	SO:0001587	stop_gained			AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532	201516	201516		-, Zinc fingers, C2H2-type	23709	protein-coding gene	gene with protein product		613419	zinc finger protein 494	ZNF494	NA		Standard	NM_152677	NM_152677	NA	Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.1177G>T	19.37:g.58190148G>T	ENSP00000321963:p.Glu393*	NA	Q3MIQ2	37	CCDS12958.1	.	.	.	.	.	.	.	.	.	.	G	44	10.753146	0.99461	.	.	ENSG00000180532	ENST00000318203	.	.	.	4.88	4.88	0.63580	.	0.441828	0.19597	N	0.110492	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-16.1709	17.3303	0.87261	0.0:0.0:1.0:0.0	.	.	.	.	X	393	.	ENSP00000321963:E393X	E	+	1	0	ZSCAN4	62881960	1.000000	0.71417	0.997000	0.53966	0.914000	0.54420	3.907000	0.56348	2.699000	0.92147	0.650000	0.86243	GAA	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466812.1		+	ENST00000318203.5	Nonsense_Mutation	SNP	19 : 58190148 - 58190148 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	915	169
GPR162	27239	broad.mit.edu	37	12	6936268	6936268	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6936268G>A	ENST00000428545.2	+	5	1292	c.814G>A	c.(814-816)Gca>Aca	p.A272T	GPR162_ENST00000311268.3_Missense_Mutation_p.A556T|GPR162_ENST00000382315.3_Missense_Mutation_p.A252T	NM_014449.1	NP_055264.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	556						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						GGGACTAAGCGCAGGGAGACG	0.662		NA											G	2	9e-04	0.002	NA	2184	0.0017	0.9999	,	,	NA	3e-04	NA	NA	NA	9e-04	0.9524	EXOME	NA	NA	0.0216	SNP								NA				0								G	THR/ALA,THR/ALA	0,4390		0,0,2195	47	56	53		1666,814	-5.2	0	12		53	1,8565		0,1,4282	yes	missense,missense	GPR162	NM_019858.1,NM_014449.1	58,58	0,1,6477	AA,AG,GG	NA	0.0117,0.0,0.0077	benign,benign	556/589,272/305	6936268	1,12955	2195	4283	6478	SO:0001583	missense			U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21					27239	27239		GPCR / Class A : Orphans	16693	protein-coding gene	gene with protein product					NA	15777626	Standard	NM_019858	NM_014449	NA	Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000428545.2:c.814G>A	12.37:g.6936268G>A	ENSP00000399670:p.Ala272Thr	NA	Q16664|Q59EH5|Q66K56	37	CCDS44819.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	8.703	0.910108	0.17833	0.0	1.17E-4	ENSG00000250510	ENST00000311268;ENST00000428545;ENST00000382315	T;T;T	0.46063	3.02;0.88;0.88	4.52	-5.23	0.02798	.	.	.	.	.	T	0.15262	0.0368	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.0	T	0.29181	-1.0020	9	0.10111	T	0.7	.	4.5993	0.12345	0.3751:0.0:0.1516:0.4733	.	272;556	Q16538-2;Q16538	.;GP162_HUMAN	T	556;272;252	ENSP00000311528:A556T;ENSP00000399670:A272T;ENSP00000371752:A252T	ENSP00000311528:A556T	A	+	1	0	GPR162	6806529	0.856000	0.29760	0.025000	0.17156	0.750000	0.42670	-0.122000	0.10627	-1.009000	0.03400	-1.333000	0.01266	GCA	GPR162-001	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399480.1		+	ENST00000428545.2	Missense_Mutation	SNP	12 : 6936268 - 6936268 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	645	134
LRRC25	126364	broad.mit.edu	37	19	18507051	18507051	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18507051G>A	ENST00000339007.3	-	1	1376	c.723C>T	c.(721-723)gaC>gaT	p.D241D	LRRC25_ENST00000595840.1_Silent_p.D241D	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	241						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						TGTTCTCATAGTCGGGAGTGG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	67	64			NA	NA	19		NA											NA				18507051		2203	4300	6503	SO:0001819	synonymous_variant			AK095435	CCDS12377.1	19p13.11	2013-09-20			ENSG00000175489	ENSG00000175489	126364	126364			29806	protein-coding gene	gene with protein product		607518			NA	12384430	Standard	NM_145256	NM_145256	NA	Approved	MAPA, FLJ38116	uc002niw.3	Q8N386	OTTHUMG00000183361	ENST00000339007.3:c.723C>T	19.37:g.18507051G>A		NA	Q6IQ00|Q8N9A5	37	CCDS12377.1																																																																																			LRRC25-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466342.1		-	ENST00000339007.3	Silent	SNP	19 : 18507051 - 18507051 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	575	107
KMT2A	4297	broad.mit.edu	37	11	118374332	118374332	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118374332A>G	ENST00000534358.1	+	27	7748	c.7725A>G	c.(7723-7725)caA>caG	p.Q2575Q	KMT2A_ENST00000389506.5_Silent_p.Q2572Q|KMT2A_ENST00000354520.4_Silent_p.Q2534Q	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A	NA											NA						CAGTGGCCCAACCAAGCCCCA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	63	62			NA	NA	11		NA											NA				118374332		2200	4296	6496	SO:0001819	synonymous_variant			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058	4297	4297		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	7132	protein-coding gene	gene with protein product		159555	myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog), myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)	MLL	NA	1720549	Standard	NM_005933	NM_001197104	NA	Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000534358.1:c.7725A>G	11.37:g.118374332A>G		NA		37	CCDS55791.1																																																																																			KMT2A-001	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389228.2		+	ENST00000534358.1	Silent	SNP	11 : 118374332 - 118374332 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	402	77
DNAH10	196385	broad.mit.edu	37	12	124270422	124270422	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124270422C>T	ENST00000409039.3	+	9	1202	c.1177C>T	c.(1177-1179)Cgc>Tgc	p.R393C		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	393	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCTCATGGAGCGCATCGCCTG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	108	112			NA	NA	12		NA											NA				124270422		2203	4300	6503	SO:0001583	missense			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653	196385	196385		Axonemal dyneins	2941	protein-coding gene	gene with protein product		605884	dynein, axonemal, heavy polypeptide 10		NA		Standard		NM_207437	NA	Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.1177C>T	12.37:g.124270422C>T	ENSP00000386770:p.Arg393Cys	NA	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199323	0.79015	.	.	ENSG00000197653	ENST00000409039	T	0.55760	0.5	5.52	3.53	0.40419	Dynein heavy chain, domain-1 (1);	0.000000	0.56097	D	0.000025	T	0.76321	0.3971	M	0.90369	3.11	0.53688	D	0.999978	D	0.89917	1.0	D	0.81914	0.995	T	0.82989	-0.0183	10	0.87932	D	0	.	14.7437	0.69474	0.4336:0.5664:0.0:0.0	.	393	Q8IVF4	DYH10_HUMAN	C	393	ENSP00000386770:R393C	ENSP00000386770:R393C	R	+	1	0	DNAH10	122836375	1.000000	0.71417	0.993000	0.49108	0.959000	0.62525	2.448000	0.44926	1.397000	0.46682	0.561000	0.74099	CGC	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335420.3		+	ENST00000409039.3	Missense_Mutation	SNP	12 : 124270422 - 124270422 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	434	80
CHD5	26038	broad.mit.edu	37	1	6215750	6215750	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6215750C>A	ENST00000262450.3	-	4	514	c.415G>T	c.(415-417)Gcc>Tcc	p.A139S	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	139					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCCCACTCGGCCATGAGCTGC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	84	87			NA	NA	1		NA											NA				6215750		2203	4300	6503	SO:0001583	missense			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254	26038	26038		Zinc fingers, PHD-type	16816	protein-coding gene	gene with protein product		610771			NA	11889561, 12592387	Standard	NM_015557	NM_015557	NA	Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.415G>T	1.37:g.6215750C>A	ENSP00000262450:p.Ala139Ser	NA	O75032|Q5TG89|Q7LGH2|Q9UFR9	37	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	3.903	-0.021652	0.07634	.	.	ENSG00000116254	ENST00000262450	D	0.90004	-2.6	4.31	3.39	0.38822	.	0.360385	0.24296	N	0.039780	D	0.82300	0.5007	L	0.43152	1.355	0.80722	D	1	B	0.18741	0.03	B	0.12156	0.007	T	0.73395	-0.3996	10	0.09590	T	0.72	-28.1265	12.3353	0.55062	0.0:0.9171:0.0:0.0829	.	139	Q8TDI0	CHD5_HUMAN	S	139	ENSP00000262450:A139S	ENSP00000262450:A139S	A	-	1	0	CHD5	6138337	1.000000	0.71417	0.984000	0.44739	0.369000	0.29798	2.566000	0.45948	0.955000	0.37878	-0.136000	0.14681	GCC	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000002823.2		-	ENST00000262450.3	Missense_Mutation	SNP	1 : 6215750 - 6215750 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	278	49
LAP3	51056	broad.mit.edu	37	4	17583965	17583965	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:17583965G>A	ENST00000226299.4	+	4	602	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	LAP3_ENST00000606142.1_Missense_Mutation_p.E79K	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	110					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						TGGAATCGACGAACAGGAAAA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	94	96			NA	NA	4		NA											NA				17583965		2203	4300	6503	SO:0001583	missense			AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	51056	51056	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	peptidase S	PEPS	NA	6350155, 689684	Standard		NM_015907	NA	Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.328G>A	4.37:g.17583965G>A	ENSP00000226299:p.Glu110Lys	NA	B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	37	CCDS3422.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.385022	0.42308	.	.	ENSG00000002549	ENST00000226299	T	0.44083	0.93	5.65	4.79	0.61399	Peptidase M17, leucyl aminopeptidase, N-terminal (1);	0.634572	0.18480	N	0.139980	T	0.36524	0.0970	L	0.37507	1.11	0.09310	N	1	B	0.14012	0.009	B	0.15870	0.014	T	0.27123	-1.0083	10	0.48119	T	0.1	-6.8573	15.4441	0.75216	0.0:0.39:0.61:0.0	.	110	P28838	AMPL_HUMAN	K	110	ENSP00000226299:E110K	ENSP00000226299:E110K	E	+	1	0	LAP3	17193063	0.985000	0.35326	0.104000	0.21259	0.937000	0.57800	2.303000	0.43646	1.485000	0.48380	0.655000	0.94253	GAA	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250365.1		+	ENST00000226299.4	Missense_Mutation	SNP	4 : 17583965 - 17583965 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	194	33
TARSL2	123283	broad.mit.edu	37	15	102252167	102252167	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:102252167G>A	ENST00000335968.3	-	5	944	c.728C>T	c.(727-729)gCc>gTc	p.A243V		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	243					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AAGCTCCATGGCCTCCCCAAG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	68	73			NA	NA	15		NA											NA				102252167		2203	4300	6503	SO:0001583	missense			AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418	123283	123283			24728	protein-coding gene	gene with protein product					NA		Standard	NM_152334	NM_152334	NA	Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.728C>T	15.37:g.102252167G>A	ENSP00000338093:p.Ala243Val	NA	B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	37	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	G	35	5.472549	0.96274	.	.	ENSG00000185418	ENST00000335968;ENST00000539112	T;T	0.24538	1.85;1.85	5.38	5.38	0.77491	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.050606	0.85682	D	0.000000	T	0.54886	0.1886	M	0.93854	3.465	0.80722	D	1	P	0.51240	0.943	P	0.53224	0.721	T	0.68085	-0.5502	10	0.72032	D	0.01	-13.9248	16.6349	0.85050	0.0:0.0:1.0:0.0	.	243	A2RTX5	SYTC2_HUMAN	V	243	ENSP00000338093:A243V;ENSP00000439899:A243V	ENSP00000338093:A243V	A	-	2	0	TARSL2	100069690	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.552000	0.98115	2.528000	0.85240	0.530000	0.56133	GCC	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313619.3		-	ENST00000335968.3	Missense_Mutation	SNP	15 : 102252167 - 102252167 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	181	35
PKD1	5310	broad.mit.edu	37	16	2164407	2164407	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2164407C>G	ENST00000262304.4	-	11	2825	c.2617G>C	c.(2617-2619)Gtc>Ctc	p.V873L	PKD1_ENST00000423118.1_Missense_Mutation_p.V873L	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	873	PKD 3.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCAGGGCAGACATTCTCAAAG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	16	17			NA	NA	16		NA											NA				2164407		2179	4276	6455	SO:0001583	missense			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710	5310	5310		Voltage-gated ion channels / Transient receptor potential cation channels	9008	protein-coding gene	gene with protein product	polycystin 1, transient receptor potential cation channel, subfamily P, member 1	601313			NA		Standard		NM_001009944	NA	Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.2617G>C	16.37:g.2164407C>G	ENSP00000262304:p.Val873Leu	NA	Q15140|Q15141	37	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	c	5.489	0.275161	0.10403	.	.	ENSG00000008710	ENST00000262304;ENST00000423118	T;T	0.33865	1.39;1.39	4.96	-7.17	0.01511	Polycystin cation channel (1);	0.538685	0.18726	N	0.132895	T	0.12008	0.0292	N	0.08118	0	0.09310	N	1	B;B	0.14438	0.008;0.01	B;B	0.04013	0.001;0.001	T	0.06180	-1.0841	10	0.39692	T	0.17	.	4.6711	0.12689	0.1067:0.2556:0.0826:0.5551	.	873;873	P98161-3;P98161	.;PKD1_HUMAN	L	873	ENSP00000262304:V873L;ENSP00000399501:V873L	ENSP00000262304:V873L	V	-	1	0	PKD1	2104408	0.000000	0.05858	0.002000	0.10522	0.023000	0.10783	-3.652000	0.00403	-0.952000	0.03649	-0.476000	0.04901	GTC	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341688.1		-	ENST00000262304.4	Missense_Mutation	SNP	16 : 2164407 - 2164407 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	204	43
MCM2	4171	broad.mit.edu	37	3	127318161	127318161	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127318161G>A	ENST00000265056.7	+	2	251	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	3	Interaction with MYST2 (By similarity).				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	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						TCTCTTGCAGGAATCATCGGA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	168	164			NA	NA	3		NA											NA				127318161		2203	4300	6503	SO:0001630	splice_region_variant			X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111	4171	4171			6944	protein-coding gene	gene with protein product	mitotin	116945	minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin), MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)	CCNL1, CDCL1	NA	1710453, 8258304	Standard		NM_004526	NA	Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.7-1G>A	3.37:g.127318161G>A		NA	Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	37	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192676	0.78902	.	.	ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142	T	0.02301	4.35	5.2	5.2	0.72013	.	1.521000	0.04101	N	0.312860	T	0.02649	0.0080	N	0.08118	0	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.52403	-0.8580	10	0.59425	D	0.04	-21.1968	15.9144	0.79500	0.0:0.0:1.0:0.0	.	3	P49736	MCM2_HUMAN	K	3	ENSP00000265056:E3K	ENSP00000265056:E3K	E	+	1	0	MCM2	128800851	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	6.119000	0.71590	2.417000	0.82017	0.585000	0.79938	GAA	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356612.1	Missense_Mutation	+	ENST00000265056.7	Splice_Site	SNP	3 : 127318161 - 127318161 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1696	304
ITGB5	3693	broad.mit.edu	37	3	124578178	124578178	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124578178C>A	ENST00000296181.4	-	3	568	c.272G>T	c.(271-273)aGc>aTc	p.S91I		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	91					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GAGGGGCAGGCTCCTCAGGAC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	69	69			NA	NA	3		NA											NA				124578178		2203	4300	6503	SO:0001583	missense			J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781	3693	3693		Integrins	6160	protein-coding gene	gene with protein product		147561			NA	2211615	Standard	NM_002213	NM_002213	NA	Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.272G>T	3.37:g.124578178C>A	ENSP00000296181:p.Ser91Ile	NA	B0LPF8|B2RD70	37	CCDS3030.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.881265	0.51801	.	.	ENSG00000082781	ENST00000296181	D	0.92752	-3.1	5.26	2.26	0.28386	Integrin beta subunit, N-terminal (2);	0.194739	0.56097	D	0.000035	D	0.90584	0.7048	L	0.55990	1.75	0.36569	D	0.872868	P	0.48016	0.904	P	0.51266	0.664	D	0.89985	0.4103	10	0.87932	D	0	.	5.305	0.15799	0.0:0.4619:0.0:0.5381	.	91	P18084	ITB5_HUMAN	I	91	ENSP00000296181:S91I	ENSP00000296181:S91I	S	-	2	0	ITGB5	126060868	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	0.793000	0.26944	0.776000	0.33473	0.655000	0.94253	AGC	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355286.3		-	ENST00000296181.4	Missense_Mutation	SNP	3 : 124578178 - 124578178 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	449	87
HIVEP2	3097	broad.mit.edu	37	6	143094707	143094707	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143094707G>A	ENST00000367604.1	-	4	1808	c.1169C>T	c.(1168-1170)cCg>cTg	p.P390L	HIVEP2_ENST00000367603.2_Missense_Mutation_p.P390L|HIVEP2_ENST00000012134.2_Missense_Mutation_p.P390L			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P390Q(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTTACTGTGCGGGCTCAGAAG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(107;843 1510 13293 16805 42198)							NA				1	Substitution - Missense(1)	lung(1)											131	127	128			NA	NA	6		NA											NA				143094707		1898	4122	6020	SO:0001583	missense			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818	3097	3097		Zinc fingers, C2H2-type	4921	protein-coding gene	gene with protein product	c-myc intron binding protein 1	143054	human immunodeficiency virus type I enhancer-binding protein 2		NA	1733857, 2022670	Standard		NM_006734	NA	Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.1169C>T	6.37:g.143094707G>A	ENSP00000356576:p.Pro390Leu	NA	Q02646|Q5THT5|Q9NS05	37	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277436	0.80580	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.53423	0.62;0.62;0.62	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.69504	0.3118	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72620	-0.4238	10	0.87932	D	0	-23.2456	20.0844	0.97795	0.0:0.0:1.0:0.0	.	390	P31629	ZEP2_HUMAN	L	390	ENSP00000356576:P390L;ENSP00000356575:P390L;ENSP00000012134:P390L	ENSP00000012134:P390L	P	-	2	0	HIVEP2	143136400	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.821000	0.97095	0.650000	0.86243	CCG	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042495.1		-	ENST00000367604.1	Missense_Mutation	SNP	6 : 143094707 - 143094707 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	782	153
PCDH8	5100	broad.mit.edu	37	13	53420462	53420462	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53420462C>T	ENST00000377942.3	-	1	2313	c.2110G>A	c.(2110-2112)Gca>Aca	p.A704T	PCDH8_ENST00000338862.4_Missense_Mutation_p.A704T	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	704	Cadherin 6.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CTGACAGTTGCGGTGGTGGTG	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(36;25 841 9273 49207)							NA				0													5	8	7			NA	NA	13		NA											NA				53420462		1864	3876	5740	SO:0001583	missense			AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099	5100	5100		Cadherins / Protocadherins : Non-clustered	8660	protein-coding gene	gene with protein product		603580			NA	9787079, 9315676	Standard	NM_002590	NM_002590	NA	Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2110G>A	13.37:g.53420462C>T	ENSP00000367177:p.Ala704Thr	NA	B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	37	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	C	36	5.777492	0.96929	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.50548	0.74;0.74	4.32	4.32	0.51571	Cadherin (4);Cadherin-like (1);	0.160212	0.29293	N	0.012575	T	0.63343	0.2503	L	0.60845	1.875	0.58432	D	0.999994	D;D	0.65815	0.994;0.995	P;D	0.63192	0.857;0.912	T	0.67879	-0.5556	10	0.66056	D	0.02	.	17.0134	0.86412	0.0:1.0:0.0:0.0	.	704;704	O95206-2;O95206	.;PCDH8_HUMAN	T	704;704;230;547	ENSP00000367177:A704T;ENSP00000341350:A704T	ENSP00000341350:A704T	A	-	1	0	PCDH8	52318463	1.000000	0.71417	0.246000	0.24233	0.995000	0.86356	6.772000	0.75001	2.234000	0.73211	0.655000	0.94253	GCA	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045108.2		-	ENST00000377942.3	Missense_Mutation	SNP	13 : 53420462 - 53420462 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	112	19
EFHC1	114327	broad.mit.edu	37	6	52288769	52288769	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52288769C>T	ENST00000371068.5	+	2	192	c.89C>T	c.(88-90)aCg>aTg	p.T30M	EFHC1_ENST00000538167.1_Missense_Mutation_p.T11M|EFHC1_ENST00000433625.2_5'UTR|EFHC1_ENST00000491749.1_3'UTR	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	30						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					AGAAGTCAGACGCTGAGCTAC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	MET/THR,MET/THR	0,4406		0,0,2203	79	77	78		32,89	6	1	6		78	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	EFHC1	NM_001172420.1,NM_018100.3	81,81	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging	11/622,30/641	52288769	1,13005	2203	4300	6503	SO:0001583	missense			AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093	114327	114327		EF-hand domain containing	16406	protein-coding gene	gene with protein product	myoclonin-1	608815	epilepsy, juvenile myoclonic 1	EJM1, EJM	NA	15258581	Standard	NM_018100	NM_018100	NA	Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.89C>T	6.37:g.52288769C>T	ENSP00000360107:p.Thr30Met	NA	Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	37	CCDS4942.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976744	0.74360	0.0	1.16E-4	ENSG00000096093	ENST00000371068;ENST00000538167	T;T	0.68624	-0.16;-0.34	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.81545	0.4845	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.991	T	0.78432	-0.2206	10	0.37606	T	0.19	-7.9389	20.4581	0.99154	0.0:1.0:0.0:0.0	.	11;30	F5GZD8;Q5JVL4	.;EFHC1_HUMAN	M	30;11	ENSP00000360107:T30M;ENSP00000444521:T11M	ENSP00000360107:T30M	T	+	2	0	EFHC1	52396728	1.000000	0.71417	0.965000	0.40720	0.993000	0.82548	6.840000	0.75369	2.835000	0.97688	0.650000	0.86243	ACG	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040905.2		+	ENST00000371068.5	Missense_Mutation	SNP	6 : 52288769 - 52288769 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	536	114
SF1	7536	broad.mit.edu	37	11	64536602	64536602	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64536602C>T	ENST00000433274.2	-	8	1010		c.e8-1		SF1_ENST00000334944.5_Splice_Site|SF1_ENST00000227503.9_Splice_Site|SF1_ENST00000377390.3_Splice_Site|SF1_ENST00000422298.2_Splice_Site|SF1_ENST00000377387.1_Splice_Site|SF1_ENST00000377394.3_Splice_Site|SF1_ENST00000489544.1_Splice_Site	NM_001178031.1	NP_001171502.1	Q15637	SF01_HUMAN	splicing factor 1	NA					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TCTTAAGATCCTATTAAAGGA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	112	110			NA	NA	11		NA											NA				64536602		2201	4297	6498	SO:0001630	splice_region_variant			D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066	7536	7536		Zinc fingers, CCHC domain containing	12950	protein-coding gene	gene with protein product		601516	zinc finger protein 162	ZNF162	NA	7912130, 9573336	Standard	NM_004630	NM_201997	NA	Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000433274.2:c.702-1G>A	11.37:g.64536602C>T		NA	Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	37	CCDS53660.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810024	0.70797	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000422298;ENST00000433274	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5751	0.87946	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SF1	64293178	1.000000	0.71417	0.999000	0.59377	0.778000	0.44026	7.260000	0.78391	2.752000	0.94435	0.557000	0.71058	.	SF1-016	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157360.4	Intron	-	ENST00000433274.2	Splice_Site	SNP	11 : 64536602 - 64536602 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	507	101
VIT	5212	broad.mit.edu	37	2	36994315	36994315	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:36994315C>A	ENST00000404084.1	+	6	666	c.500C>A	c.(499-501)gCt>gAt	p.A167D	VIT_ENST00000401530.1_Missense_Mutation_p.A189D|VIT_ENST00000389975.3_Missense_Mutation_p.A189D|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000379242.3_Missense_Mutation_p.A189D|VIT_ENST00000379241.3_Missense_Mutation_p.A189D			Q6UXI7	VITRN_HUMAN	vitrin	189						proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CAGCTTCTGGCTGTCACTGTA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	69	72			NA	NA	2		NA											NA				36994315		2203	4300	6503	SO:0001583	missense			AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221	5212	5212			12697	protein-coding gene	gene with protein product					NA		Standard		NM_001177969	NA	Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000404084.1:c.500C>A	2.37:g.36994315C>A	ENSP00000384154:p.Ala167Asp	NA	A6NKI9|A8K7Y4|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	37		.	.	.	.	.	.	.	.	.	.	C	11.79	1.744730	0.30865	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000404084;ENST00000379241;ENST00000401530	T;T;T;T;T	0.68765	-0.35;-0.28;-0.25;-0.19;-0.25	5.55	1.8	0.24995	.	0.653797	0.15080	N	0.281690	T	0.44953	0.1318	N	0.22421	0.69	0.09310	N	1	B;B;B;P	0.39782	0.094;0.302;0.201;0.688	B;B;B;B	0.36134	0.037;0.075;0.051;0.218	T	0.22347	-1.0219	10	0.30854	T	0.27	1.337	5.1502	0.15005	0.0:0.4925:0.2127:0.2948	.	189;189;189;189	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	D	189;189;167;189;189	ENSP00000368544:A189D;ENSP00000374625:A189D;ENSP00000384154:A167D;ENSP00000368543:A189D;ENSP00000385658:A189D	ENSP00000368543:A189D	A	+	2	0	VIT	36847819	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.630000	0.24553	0.051000	0.15978	-0.145000	0.13849	GCT	VIT-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000325453.1		+	ENST00000404084.1	Missense_Mutation	SNP	2 : 36994315 - 36994315 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	235	46
PKHD1L1	93035	broad.mit.edu	37	8	110505909	110505909	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110505909C>T	ENST00000378402.5	+	63	10360	c.10256C>T	c.(10255-10257)aCa>aTa	p.T3419I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3419					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGGACCAATACAGTTTTACAG	0.358		NA								HNSCC(38;0.096)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	77	77			NA	NA	8		NA											NA				110505909		1822	4068	5890	SO:0001583	missense			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038	93035	93035			20313	protein-coding gene	gene with protein product		607843			NA	12620974	Standard	NM_177531	NM_177531	NA	Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.10256C>T	8.37:g.110505909C>T	ENSP00000367655:p.Thr3419Ile	NA	Q567P2|Q9UF27	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	9.408	1.079808	0.20309	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	T;T	0.79749	-1.3;-1.3	6.08	6.08	0.98989	Pectin lyase fold/virulence factor (1);	0.201560	0.43747	D	0.000533	T	0.65217	0.2670	N	0.12569	0.235	0.27387	N	0.955256	B	0.18310	0.027	B	0.24701	0.055	T	0.52472	-0.8571	10	0.21014	T	0.42	.	11.4294	0.50032	0.0:0.919:0.0:0.081	.	3419	Q86WI1	PKHL1_HUMAN	I	3419;347	ENSP00000367655:T3419I;ENSP00000437376:T347I	ENSP00000367655:T3419I	T	+	2	0	PKHD1L1	110575085	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	4.764000	0.62264	2.894000	0.99253	0.591000	0.81541	ACA	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381017.1		+	ENST00000378402.5	Missense_Mutation	SNP	8 : 110505909 - 110505909 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	157	29
FAM168B	130074	broad.mit.edu	37	2	131813237	131813237	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131813237G>A	ENST00000409185.1	-	4	293	c.186C>T	c.(184-186)tcC>tcT	p.S62S	FAM168B_ENST00000389915.3_Silent_p.S62S	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN	family with sequence similarity 168, member B	62										endometrium(3)|lung(2)	5						TGGGGGAACAGGACACTTTGT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	48	46			NA	NA	2		NA											NA				131813237		2033	4189	6222	SO:0001819	synonymous_variant				CCDS42755.1	2q21.1	2008-08-08			ENSG00000152102	ENSG00000152102	130074	130074			27016	protein-coding gene	gene with protein product					NA		Standard	NM_001009993	NM_001009993	NA	Approved	KIAA0280L	uc002tsd.3	A1KXE4	OTTHUMG00000153473	ENST00000409185.1:c.186C>T	2.37:g.131813237G>A		NA	Q2TAZ6|Q6NZ40	37	CCDS42755.1																																																																																			FAM168B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331299.2		-	ENST00000409185.1	Silent	SNP	2 : 131813237 - 131813237 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	242	22
OR1S1	219959	broad.mit.edu	37	11	57982274	57982274	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57982274A>G	ENST00000309433.6	+	1	58	c.58A>G	c.(58-60)Acc>Gcc	p.T20A		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				AGGAAACCAAACCACCATCAC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													193	176	182			NA	NA	11		NA											NA				57982274		2201	4296	6497	SO:0001583	missense			BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774	219959	219959		GPCR / Class A : Olfactory receptors	8227	protein-coding gene	gene with protein product					NA		Standard	NM_001004458	NM_001004458	NA	Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.58A>G	11.37:g.57982274A>G	ENSP00000311688:p.Thr20Ala	NA	Q6IFG3	37	CCDS31546.1	.	.	.	.	.	.	.	.	.	.	A	10.43	1.347191	0.24426	.	.	ENSG00000172774	ENST00000309433	T	0.04406	3.63	3.45	3.45	0.39498	.	0.000000	0.50627	D	0.000111	T	0.11707	0.0285	M	0.88704	2.975	0.09310	N	1	D	0.54207	0.965	P	0.44518	0.452	T	0.16928	-1.0386	10	0.72032	D	0.01	.	9.8205	0.40880	1.0:0.0:0.0:0.0	.	20	Q8NH92	OR1S1_HUMAN	A	20	ENSP00000311688:T20A	ENSP00000311688:T20A	T	+	1	0	OR1S1	57738850	0.016000	0.18221	0.424000	0.26647	0.014000	0.08584	2.735000	0.47377	1.443000	0.47586	0.392000	0.25879	ACC	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394705.1		+	ENST00000309433.6	Missense_Mutation	SNP	11 : 57982274 - 57982274 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	489	97
TRIM55	84675	broad.mit.edu	37	8	67040557	67040557	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67040557C>T	ENST00000315962.4	+	2	560	c.187C>T	c.(187-189)Ccc>Tcc	p.P63S	TRIM55_ENST00000353317.5_Missense_Mutation_p.P63S|TRIM55_ENST00000350034.4_Missense_Mutation_p.P63S|TRIM55_ENST00000276573.7_Missense_Mutation_p.P63S	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	63						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CCCGTATTTGCCCACAAGAGG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	111	111			NA	NA	8		NA											NA				67040557		2203	4300	6503	SO:0001583	missense			AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573	84675	84675		RING-type (C3HC4) zinc fingers, Tripartite motif containing / Tripartite motif containing	14215	protein-coding gene	gene with protein product		606469	ring finger protein 29, tripartite motif-containing 55	RNF29	NA	11243782	Standard	NM_184085	NM_033058	NA	Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.187C>T	8.37:g.67040557C>T	ENSP00000323913:p.Pro63Ser	NA	B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	37	CCDS6184.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983031	0.53827	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573;ENST00000350034	T;T;T;T	0.39406	1.45;1.51;1.46;1.08	5.67	5.67	0.87782	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.047540	0.85682	D	0.000000	T	0.25531	0.0621	N	0.02916	-0.46	0.47153	D	0.999333	B;B;B;B	0.21688	0.021;0.059;0.012;0.01	B;B;B;B	0.23150	0.039;0.018;0.044;0.037	T	0.10154	-1.0642	10	0.41790	T	0.15	.	19.7667	0.96346	0.0:1.0:0.0:0.0	.	63;63;63;63	Q9BYV6-4;Q9BYV6-2;Q9BYV6;Q9BYV6-3	.;.;TRI55_HUMAN;.	S	63	ENSP00000323913:P63S;ENSP00000297348:P63S;ENSP00000276573:P63S;ENSP00000332302:P63S	ENSP00000276573:P63S	P	+	1	0	TRIM55	67203111	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.007000	0.49536	2.660000	0.90430	0.650000	0.86243	CCC	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378921.1		+	ENST00000315962.4	Missense_Mutation	SNP	8 : 67040557 - 67040557 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	655	112
C1orf65	0	broad.mit.edu	37	1	223567616	223567616	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223567616C>T	ENST00000366875.3	+	1	902	c.799C>T	c.(799-801)Ctc>Ttc	p.L267F		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN		267										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GCTGACCCGTCTCAAGAAGGC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	26	26			NA	NA	1		NA											NA				223567616		2202	4300	6502	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000366875.3:c.799C>T	1.37:g.223567616C>T	ENSP00000355840:p.Leu267Phe	NA	Q8N746|Q8NA93	37	CCDS1537.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.310041	0.23821	.	.	ENSG00000178395	ENST00000366875	T	0.26223	1.75	4.79	4.79	0.61399	.	.	.	.	.	T	0.43456	0.1248	M	0.64997	1.995	0.09310	N	1	D	0.65815	0.995	D	0.66979	0.948	T	0.21724	-1.0237	9	0.38643	T	0.18	.	9.0497	0.36369	0.0:0.8993:0.0:0.1007	.	267	Q8N715	CA065_HUMAN	F	267	ENSP00000355840:L267F	ENSP00000355840:L267F	L	+	1	0	C1orf65	221634239	1.000000	0.71417	0.429000	0.26710	0.146000	0.21551	2.764000	0.47613	2.161000	0.67846	0.650000	0.86243	CTC	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092718.1		+	ENST00000366875.3	Missense_Mutation	SNP	1 : 223567616 - 223567616 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	197	45
ATP9A	10079	broad.mit.edu	37	20	50329607	50329607	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50329607C>T	ENST00000338821.5	-	4	598	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	ATP9A_ENST00000402822.1_Missense_Mutation_p.V112M|ATP9A_ENST00000311637.5_Missense_Mutation_p.V97M	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	112					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			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ACGGCCAGCACGAAGCCCTGC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	52	61			NA	NA	20		NA											NA				50329607		2203	4299	6502	SO:0001583	missense			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793	10079	10079		ATPases / P-type	13540	protein-coding gene	gene with protein product		609126	ATPase, Class II, type 9A		NA	9734811, 11015572	Standard	NM_006045	NM_006045	NA	Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.334G>A	20.37:g.50329607C>T	ENSP00000342481:p.Val112Met	NA	E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	37	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761489	0.89932	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	D;D;D	0.83335	-1.71;-1.71;-1.71	4.8	4.8	0.61643	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.060523	0.64402	D	0.000004	D	0.93501	0.7926	H	0.94734	3.575	0.36707	D	0.880458	D;D	0.69078	0.963;0.997	P;D	0.70016	0.758;0.967	D	0.97222	0.9878	10	0.87932	D	0	-25.178	17.8464	0.88731	0.0:1.0:0.0:0.0	.	112;112	O75110-2;O75110	.;ATP9A_HUMAN	M	97;112;112	ENSP00000309086:V97M;ENSP00000342481:V112M;ENSP00000385875:V112M	ENSP00000309086:V97M	V	-	1	0	ATP9A	49763014	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.082000	0.76851	2.216000	0.71823	0.557000	0.71058	GTG	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000106494.1		-	ENST00000338821.5	Missense_Mutation	SNP	20 : 50329607 - 50329607 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	74	10
KIF27	55582	broad.mit.edu	37	9	86518147	86518147	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86518147A>G	ENST00000297814.2	-	4	1429	c.1286T>C	c.(1285-1287)gTc>gCc	p.V429A	KIF27_ENST00000413982.1_Missense_Mutation_p.V429A|KIF27_ENST00000334204.2_Missense_Mutation_p.V429A	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	429					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						GTTTAGTCTGACAGTATCTTT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													183	164	170			NA	NA	9		NA											NA				86518147		2203	4300	6503	SO:0001583	missense			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115	55582	55582		Kinesins	18632	protein-coding gene	gene with protein product		611253			NA		Standard	NM_017576	NM_017576	NA	Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.1286T>C	9.37:g.86518147A>G	ENSP00000297814:p.Val429Ala	NA	B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	37	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	A	1.074	-0.669059	0.03403	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.68903	-0.36;-0.35;-0.22	5.37	3.04	0.35103	.	0.258741	0.26863	N	0.022107	T	0.50103	0.1596	L	0.46157	1.445	0.20821	N	0.999842	B;B;B	0.25850	0.049;0.136;0.132	B;B;B	0.22152	0.018;0.038;0.021	T	0.32481	-0.9905	10	0.06625	T	0.88	.	7.501	0.27518	0.696:0.0:0.304:0.0	.	429;429;429	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	A	429	ENSP00000297814:V429A;ENSP00000401688:V429A;ENSP00000333928:V429A	ENSP00000297814:V429A	V	-	2	0	KIF27	85707967	0.944000	0.32072	0.924000	0.36721	0.842000	0.47809	3.340000	0.52143	0.883000	0.36040	0.533000	0.62120	GTC	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052861.1		-	ENST00000297814.2	Missense_Mutation	SNP	9 : 86518147 - 86518147 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	403	63
PPEF1	5475	broad.mit.edu	37	X	18824540	18824540	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18824540C>T	ENST00000361511.4	+	15	1765	c.1271C>T	c.(1270-1272)gCt>gTt	p.A424V	PPEF1_ENST00000544635.1_Missense_Mutation_p.A359V|PPEF1_ENST00000349874.5_Missense_Mutation_p.A362V|PPEF1_ENST00000359763.6_Missense_Mutation_p.A371V|PPEF1_ENST00000543630.1_Intron	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	424	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					ATATTTTCTGCTTCTAATTAT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	128	129			NA	NA	X		NA											NA				18824540		2203	4300	6503	SO:0001583	missense			BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717	5475	5475		Serine/threonine phosphatases / Protein phosphatase, catalytic subunits, EF-hand domain containing	9243	protein-coding gene	gene with protein product	protein phosphatase 7, catalytic subunit, alpha isozyme	300109		PPEF	NA	9215685, 9326663	Standard	NM_006240	NM_152224	NA	Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.1271C>T	X.37:g.18824540C>T	ENSP00000354871:p.Ala424Val	NA	A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	37	CCDS14188.1	.	.	.	.	.	.	.	.	.	.	c	15.94	2.980000	0.53827	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000544635	T;T;T;T	0.20332	2.08;2.08;2.08;2.08	5.57	4.71	0.59529	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);	0.432853	0.21774	N	0.069307	T	0.50633	0.1627	M	0.84773	2.715	0.58432	D	0.999993	D;D;D	0.89917	0.972;1.0;0.972	P;D;P	0.91635	0.536;0.999;0.536	T	0.57081	-0.7872	10	0.72032	D	0.01	-6.5339	13.6719	0.62430	0.0:0.9238:0.0:0.0762	.	362;424;396	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	V	424;371;362;359	ENSP00000354871:A424V;ENSP00000352806:A371V;ENSP00000341892:A362V;ENSP00000441289:A359V	ENSP00000341892:A362V	A	+	2	0	PPEF1	18734461	1.000000	0.71417	0.986000	0.45419	0.102000	0.19082	7.356000	0.79445	1.116000	0.41820	-0.329000	0.08387	GCT	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055953.3		+	ENST00000361511.4	Missense_Mutation	SNP	X : 18824540 - 18824540 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	528	176
THRAP3	9967	broad.mit.edu	37	1	36766592	36766592	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36766592G>T	ENST00000354618.5	+	10	2633	c.2409G>T	c.(2407-2409)gaG>gaT	p.E803D	THRAP3_ENST00000469141.2_Missense_Mutation_p.E803D	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	803					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGGAAAGAGAGGAGAGCACCA	0.512		NA	T	USP6	aneurysmal bone cysts									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(129;785 1795 20938 23278 32581)		Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	0													87	81	83			NA	NA	1		NA											NA				36766592		2203	4300	6503	SO:0001583	missense			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118	9967	9967			22964	protein-coding gene	gene with protein product		603809			NA		Standard	NM_005119	NM_005119	NA	Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.2409G>T	1.37:g.36766592G>T	ENSP00000346634:p.Glu803Asp	NA	D3DPS5|Q5VTK6	37	CCDS405.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.479885	0.63849	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.16196	2.36;2.36	5.51	2.51	0.30379	.	0.000000	0.64402	D	0.000001	T	0.16041	0.0386	L	0.54323	1.7	0.35027	D	0.758439	B	0.12013	0.005	B	0.15870	0.014	T	0.11717	-1.0576	10	0.33141	T	0.24	-19.3771	10.2893	0.43586	0.2348:0.0:0.7652:0.0	.	803	Q9Y2W1	TR150_HUMAN	D	803	ENSP00000346634:E803D;ENSP00000433825:E803D	ENSP00000346634:E803D	E	+	3	2	THRAP3	36539179	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.993000	0.40747	0.767000	0.33267	0.650000	0.86243	GAG	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021688.2		+	ENST00000354618.5	Missense_Mutation	SNP	1 : 36766592 - 36766592 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	333	37
TLE6	79816	broad.mit.edu	37	19	2993462	2993462	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2993462C>A	ENST00000246112.4	+	15	1620	c.1419C>A	c.(1417-1419)gaC>gaA	p.D473E	TLE6_ENST00000452088.1_Missense_Mutation_p.D350E	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6	350					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				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)		CCCAGGAGGACTGGGTGCTGC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	41	41			NA	NA	19		NA											NA				2993462		2203	4300	6503	SO:0001583	missense			AK024071	CCDS12100.1, CCDS45910.1	19p13.3	2014-03-07	2014-03-07		ENSG00000104953	ENSG00000104953	79816	79816		WD repeat domain containing	30788	protein-coding gene	gene with protein product		612399	transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)		NA	11486032	Standard	NM_024760	NM_024760	NA	Approved	FLJ14009, GRG6	uc002lwt.2	Q9H808	OTTHUMG00000156793	ENST00000246112.4:c.1419C>A	19.37:g.2993462C>A	ENSP00000246112:p.Asp473Glu	NA		37	CCDS45910.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.487138	0.26686	.	.	ENSG00000104953	ENST00000447920;ENST00000246112;ENST00000452088;ENST00000441927	T;T	0.11385	2.78;2.78	3.38	3.38	0.38709	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.12689	0.0308	L	0.43923	1.385	0.35456	D	0.796125	D;P;P;D	0.54772	0.968;0.859;0.937;0.968	P;P;B;P	0.52758	0.708;0.619;0.414;0.569	T	0.02721	-1.1119	9	0.02654	T	1	-46.1116	10.5257	0.44948	0.0:1.0:0.0:0.0	.	473;331;350;350	C9JGZ7;Q9Y6S1;Q9H808;Q6PJM9	.;.;TLE6_HUMAN;.	E	473;473;350;350	ENSP00000246112:D473E;ENSP00000406893:D350E	ENSP00000246112:D473E	D	+	3	2	TLE6	2944462	0.998000	0.40836	0.859000	0.33776	0.284000	0.27059	0.605000	0.24179	2.202000	0.70862	0.561000	0.74099	GAC	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345996.3		+	ENST00000246112.4	Missense_Mutation	SNP	19 : 2993462 - 2993462 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	230	33
DTX2	113878	broad.mit.edu	37	7	76131738	76131738	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:76131738C>A	ENST00000324432.5	+	9	1864	c.1354C>A	c.(1354-1356)Ctg>Atg	p.L452M	DTX2_ENST00000413936.2_Missense_Mutation_p.L452M|DTX2_ENST00000446820.2_Missense_Mutation_p.L405M|DTX2_ENST00000430490.2_Missense_Mutation_p.L452M|DTX2_ENST00000307569.8_Missense_Mutation_p.L405M|DTX2_ENST00000446600.1_Missense_Mutation_p.L361M	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	452					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CTTCCACCTGCTGTGCCTCCT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	50	57			NA	NA	7		NA											NA				76131738		2202	4295	6497	SO:0001583	missense				CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073	113878	113878		RING-type (C3HC4) zinc fingers	15973	protein-coding gene	gene with protein product		613141	deltex (Drosophila) homolog 2, deltex homolog 2 (Drosophila)		NA	12670957	Standard		NM_020892	NA	Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.1354C>A	7.37:g.76131738C>A	ENSP00000322885:p.Leu452Met	NA	Q6XM88|Q96H69|Q9H890|Q9P200	37	CCDS5587.1	.	.	.	.	.	.	.	.	.	.	.	24.1	4.498720	0.85069	.	.	ENSG00000091073	ENST00000324432;ENST00000307569;ENST00000541989;ENST00000446600;ENST00000413936;ENST00000430490;ENST00000446820	T;D;T;T;T;D	0.85629	1.92;-2.01;1.92;1.92;1.92;-2.01	5.48	4.6	0.57074	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.139272	0.49916	D	0.000130	D	0.91751	0.7391	M	0.80183	2.485	0.58432	D	0.999999	D;P;D;D;D	0.89917	0.987;0.939;1.0;0.987;0.961	D;D;D;D;D	0.97110	0.986;0.979;1.0;0.986;0.975	D	0.91606	0.5299	10	0.46703	T	0.11	-29.1279	12.9873	0.58598	0.0:0.9222:0.0:0.0778	.	361;83;361;405;452	F5GX89;Q6P2H0;E7ET89;Q86UW9-2;Q86UW9	.;.;.;.;DTX2_HUMAN	M	452;405;361;361;452;452;405	ENSP00000322885:L452M;ENSP00000305242:L405M;ENSP00000397648:L361M;ENSP00000390218:L452M;ENSP00000411986:L452M;ENSP00000392545:L405M	ENSP00000305242:L405M	L	+	1	2	AC005522.1	75969674	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.994000	0.70623	1.314000	0.45095	0.655000	0.94253	CTG	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253104.2		+	ENST00000324432.5	Missense_Mutation	SNP	7 : 76131738 - 76131738 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	227	54
BAIAP3	8938	broad.mit.edu	37	16	1398126	1398126	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1398126G>A	ENST00000421665.2	+	32	3284	c.3071G>A	c.(3070-3072)cGc>cAc	p.R1024H	BAIAP3_ENST00000426824.3_Missense_Mutation_p.R1060H|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R1077H|BAIAP3_ENST00000324385.5_Missense_Mutation_p.R1095H|BAIAP3_ENST00000397489.1_Missense_Mutation_p.R1077H|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R1037H|BAIAP3_ENST00000568887.1_Missense_Mutation_p.R1032H	NM_001199096.1	NP_001186025.1	O94812	BAIP3_HUMAN	BAI1-associated protein 3	1095	C2 2.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TGCCGCCGCCGCGCGGCCTGT	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	26	26			NA	NA	16		NA											NA				1398126		2192	4293	6485	SO:0001583	missense			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516	8938	8938			948	protein-coding gene	gene with protein product		604009			NA	9790924	Standard		NM_003933	NA	Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000421665.2:c.3071G>A	16.37:g.1398126G>A	ENSP00000409533:p.Arg1024His	NA	B2RCD7|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	37	CCDS55979.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942314	0.53079	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.72394	-0.64;-0.64;-0.65;-0.64;-0.62	4.65	4.65	0.58169	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.070764	0.53938	D	0.000056	T	0.76033	0.3931	L	0.46885	1.475	0.41808	D	0.989951	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	P;D;D;D	0.68483	0.891;0.958;0.958;0.958	T	0.77281	-0.2646	10	0.59425	D	0.04	-11.4728	8.7969	0.34885	0.1047:0.0:0.8953:0.0	.	1024;1037;1095;1077	E7EUB9;B4DIK3;O94812;A2A2B2	.;.;BAIP3_HUMAN;.	H	1060;1077;1095;1077;1024	ENSP00000407242:R1060H;ENSP00000380625:R1077H;ENSP00000324510:R1095H;ENSP00000380626:R1077H;ENSP00000409533:R1024H	ENSP00000324510:R1095H	R	+	2	0	BAIAP3	1338127	0.966000	0.33281	0.804000	0.32291	0.073000	0.16967	3.136000	0.50554	2.117000	0.64856	0.561000	0.74099	CGC	BAIAP3-007	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432010.1		+	ENST00000421665.2	Missense_Mutation	SNP	16 : 1398126 - 1398126 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	311	14
LRRC8D	55144	broad.mit.edu	37	1	90399281	90399281	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90399281C>T	ENST00000337338.5	+	3	1061	c.654C>T	c.(652-654)tgC>tgT	p.C218C	LRRC8D_ENST00000394593.3_Silent_p.C218C	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	218						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		AGACAGCATGCGAAGACTCAG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	60	60			NA	NA	1		NA											NA				90399281		2203	4300	6503	SO:0001819	synonymous_variant			AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492	55144	55144			16992	protein-coding gene	gene with protein product		612890	leucine rich repeat containing 5	LRRC5	NA		Standard	NM_018103	NM_018103	NA	Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.654C>T	1.37:g.90399281C>T		NA	D3DT29|Q6UWB2|Q9NVW3	37	CCDS726.1																																																																																			LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029203.2		+	ENST00000337338.5	Silent	SNP	1 : 90399281 - 90399281 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	325	63
PALM2-AKAP2	445815	broad.mit.edu	37	9	112900703	112900703	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112900703C>A	ENST00000374530.3	+	8	3059	c.2879C>A	c.(2878-2880)gCt>gAt	p.A960D	AKAP2_ENST00000482335.1_3'UTR|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A960D|AKAP2_ENST00000434623.2_Missense_Mutation_p.A818D|AKAP2_ENST00000510514.5_Missense_Mutation_p.A960D|AKAP2_ENST00000555236.1_Missense_Mutation_p.A960D|AKAP2_ENST00000374525.1_Missense_Mutation_p.A818D|AKAP2_ENST00000259318.7_Missense_Mutation_p.A729D	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN	PALM2-AKAP2 readthrough	729							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						ATCCGAGCAGCTCAGGAAAGG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	77	79			NA	NA	9		NA											NA				112900703		2203	4300	6503	SO:0001583	missense			AB023137	CCDS35100.1, CCDS35101.1	9q31.3	2010-02-17			ENSG00000157654	ENSG00000157654	445815	445815			33529	other	readthrough					NA	11478809	Standard		NM_147150	NA	Approved		uc004bej.4		OTTHUMG00000156812	ENST00000374530.3:c.2879C>A	9.37:g.112900703C>A	ENSP00000363654:p.Ala960Asp	NA	B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	37	CCDS35100.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498748	0.85069	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.67865	1.5;1.5;1.5;1.5;1.5;1.5;-0.29;1.5	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.81019	0.4736	M	0.65498	2.005	0.80722	D	1	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	D;D;D;D;D;D;D;D	0.91635	0.998;0.999;0.998;0.999;0.998;0.999;0.999;0.998	T	0.77094	-0.2715	10	0.33141	T	0.24	-27.8397	19.2867	0.94077	0.0:1.0:0.0:0.0	.	729;818;812;818;819;960;960;778	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	D	960;960;960;960;818;818;778;729	ENSP00000363654:A960D;ENSP00000305861:A960D;ENSP00000451476:A960D;ENSP00000421522:A960D;ENSP00000404782:A818D;ENSP00000363649:A818D;ENSP00000419268:A778D;ENSP00000259318:A729D	ENSP00000259318:A729D	A	+	2	0	PALM2-AKAP2;AKAP2	111940524	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.276000	0.78559	2.793000	0.96121	0.655000	0.94253	GCT	PALM2-AKAP2-001	KNOWN	basic|appris_candidate_longest|readthrough_transcript|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053603.1		+	ENST00000374530.3	Missense_Mutation	SNP	9 : 112900703 - 112900703 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	347	42
TAP1	6890	broad.mit.edu	37	6	32818155	32818155	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32818155A>C	ENST00000354258.4	-	5	1531	c.1370T>G	c.(1369-1371)aTa>aGa	p.I457R	TAP1_ENST00000425148.2_Missense_Mutation_p.I196R|PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	457	ABC transmembrane type-1.|Involved in peptide-binding site.				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						GAGTGTCTTTATTTCTTGCAG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	144	147			NA	NA	6		NA											NA				32818155		2203	4300	6503	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.1370T>G	6.37:g.32818155A>C	ENSP00000346206:p.Ile457Arg	NA	Q16149|Q96CP4	37	CCDS4758.1	.	.	.	.	.	.	.	.	.	.	A	17.15	3.316890	0.60524	.	.	ENSG00000168394	ENST00000354258;ENST00000425148	T;T	0.80566	-1.39;-1.39	5.72	4.59	0.56863	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	1.005140	0.08010	N	0.990277	T	0.61324	0.2338	N	0.19112	0.55	0.48511	D	0.999665	P	0.38745	0.645	P	0.44422	0.449	T	0.63959	-0.6519	10	0.66056	D	0.02	-10.3736	4.4281	0.11513	0.7684:0.0:0.2316:0.0	.	457	Q03518	TAP1_HUMAN	R	457;196	ENSP00000346206:I457R;ENSP00000401919:I196R	ENSP00000346206:I457R	I	-	2	0	TAP1	32926133	0.993000	0.37304	0.366000	0.25914	0.793000	0.44817	2.439000	0.44846	2.185000	0.69588	0.523000	0.50628	ATA	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076087.2		-	ENST00000354258.4	Missense_Mutation	SNP	6 : 32818155 - 32818155 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	446	84
OR4Q3	441669	broad.mit.edu	37	14	20216181	20216181	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20216181C>T	ENST00000331723.1	+	1	595	c.595C>T	c.(595-597)Ctg>Ttg	p.L199L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGTAGAGGTGCTGGTGATAGC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													210	164	179			NA	NA	14		NA											NA				20216181		2203	4300	6503	SO:0001819	synonymous_variant			AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652	441669	441669		GPCR / Class A : Olfactory receptors	15426	protein-coding gene	gene with protein product				OR4Q4	NA		Standard		NM_172194	NA	Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.595C>T	14.37:g.20216181C>T		NA	Q6IEX4	37	CCDS32020.1																																																																																			OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409818.2		+	ENST00000331723.1	Silent	SNP	14 : 20216181 - 20216181 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	383	19
PLCB4	5332	broad.mit.edu	37	20	9389787	9389787	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:9389787A>G	ENST00000378501.2	+	20	1937	c.1922A>G	c.(1921-1923)aAc>aGc	p.N641S	PLCB4_ENST00000378473.3_Missense_Mutation_p.N653S|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Missense_Mutation_p.N653S|PLCB4_ENST00000378493.1_Missense_Mutation_p.N641S|PLCB4_ENST00000278655.4_Missense_Mutation_p.N641S|PLCB4_ENST00000334005.3_Missense_Mutation_p.N641S	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	641	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATTTTCTGGAACGCTGGCTGC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	54	58			NA	NA	20		NA											NA				9389787		2203	4300	6503	SO:0001583	missense				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	5332	5332	3.1.4.11		9059	protein-coding gene	gene with protein product		600810			NA	8530101	Standard		NM_000933	NA	Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378501.2:c.1922A>G	20.37:g.9389787A>G	ENSP00000367762:p.Asn641Ser	NA	B7ZLK6|Q17R56|Q5JYS8|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	37	CCDS13104.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.750074	0.89753	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	5.92	5.92	0.95590	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.080904	0.85682	D	0.000000	T	0.76630	0.4014	L	0.45285	1.41	0.80722	D	1	D;B;D;D	0.65815	0.968;0.262;0.995;0.993	P;B;D;P	0.71870	0.693;0.086;0.975;0.841	T	0.78710	-0.2098	10	0.87932	D	0	.	16.3544	0.83230	1.0:0.0:0.0:0.0	.	653;488;641;641	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	S	641;653;641;641;641;489	ENSP00000334105:N641S;ENSP00000367734:N653S;ENSP00000278655:N641S;ENSP00000367754:N641S;ENSP00000367762:N641S;ENSP00000390616:N489S	ENSP00000278655:N641S	N	+	2	0	PLCB4	9337787	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.283000	0.95860	2.265000	0.75225	0.459000	0.35465	AAC	PLCB4-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077958.2		+	ENST00000378501.2	Missense_Mutation	SNP	20 : 9389787 - 9389787 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	178	38
ANKRD11	29123	broad.mit.edu	37	16	89347666	89347666	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89347666C>T	ENST00000301030.4	-	9	5744	c.5284G>A	c.(5284-5286)Gac>Aac	p.D1762N	ANKRD11_ENST00000378330.2_Missense_Mutation_p.D1762N	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1762						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GAGAACCTGTCGAAAAAGGAG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	42	42			NA	NA	16		NA											NA				89347666		2198	4299	6497	SO:0001583	missense			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522	29123	29123		Ankyrin repeat domain containing	21316	protein-coding gene	gene with protein product		611192			NA	11483580	Standard	NM_013275	NM_001256182	NA	Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.5284G>A	16.37:g.89347666C>T	ENSP00000301030:p.Asp1762Asn	NA	Q6NTG1|Q6QMF8	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	c	22.5	4.299473	0.81136	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.43294	0.95;0.95	4.9	4.9	0.64082	.	0.226096	0.35436	N	0.003218	T	0.30665	0.0772	L	0.34521	1.04	0.80722	D	1	P	0.37864	0.61	B	0.23574	0.047	T	0.30149	-0.9988	10	0.72032	D	0.01	.	16.8476	0.85985	0.0:1.0:0.0:0.0	.	1762	Q6UB99	ANR11_HUMAN	N	1762	ENSP00000301030:D1762N;ENSP00000367581:D1762N	ENSP00000301030:D1762N	D	-	1	0	ANKRD11	87875167	1.000000	0.71417	0.988000	0.46212	0.877000	0.50540	4.278000	0.58946	2.266000	0.75297	0.457000	0.33378	GAC	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000430462.3		-	ENST00000301030.4	Missense_Mutation	SNP	16 : 89347666 - 89347666 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	518	134
CDK12	51755	broad.mit.edu	37	17	37627662	37627662	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37627662C>A	ENST00000447079.4	+	2	1610	c.1577C>A	c.(1576-1578)cCt>cAt	p.P526H	CDK12_ENST00000430627.2_Missense_Mutation_p.P526H	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	526					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AAGGAGACCCCTCCACCTCTT	0.498		NA	Mis, N, F		serous ovarian					TCGA Ovarian(9;0.13)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0													144	153	150			NA	NA	17		NA											NA				37627662		2203	4300	6503	SO:0001583	missense			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258	51755	51755		Cyclin-dependent kinases	24224	protein-coding gene	gene with protein product	CDC2 related protein kinase 7	615514	Cdc2-related kinase, arginine/serine-rich	CRKRS	NA	10048485, 11683387, 19884882	Standard	NM_016507	XM_005257456	NA	Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1577C>A	17.37:g.37627662C>A	ENSP00000398880:p.Pro526His	NA	A7E2B2|B4DYX4|B9EIQ6|O94978	37	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.672699	0.29693	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.72051	-0.62;-0.59	5.99	-6.48	0.01896	.	0.643554	0.13842	N	0.358957	T	0.47783	0.1464	N	0.19112	0.55	0.31816	N	0.626596	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.12837	0.003;0.003;0.008	T	0.14364	-1.0475	10	0.62326	D	0.03	6.8656	8.384	0.32488	0.0976:0.3726:0.0:0.5298	.	525;526;526	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	H	526	ENSP00000407720:P526H;ENSP00000398880:P526H	ENSP00000407720:P526H	P	+	2	0	CDK12	34881188	0.945000	0.32115	0.480000	0.27341	0.718000	0.41266	0.153000	0.16323	-1.116000	0.02969	-0.140000	0.14226	CCT	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256941.4		+	ENST00000447079.4	Missense_Mutation	SNP	17 : 37627662 - 37627662 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	860	191
CD276	80381	broad.mit.edu	37	15	74003513	74003513	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74003513T>C	ENST00000318443.5	+	9	1884		c.e9+2		CD276_ENST00000564751.1_Splice_Site|CD276_ENST00000537340.2_Splice_Site|CD276_ENST00000318424.5_Splice_Site|CD276_ENST00000561213.1_Silent_p.G528G	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	NA					cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						GCAAAGAAGGTAAAGACACCT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	131	139			NA	NA	15		NA											NA				74003513		2198	4297	6495	SO:0001630	splice_region_variant			AF302102	CCDS10251.1, CCDS32288.1	15q23-q24	2013-01-11	2006-03-28		ENSG00000103855	ENSG00000103855	80381	80381		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing	19137	protein-coding gene	gene with protein product		605715	CD276 antigen		NA	11224528, 12055244	Standard	NM_025240	XM_005254699	NA	Approved	B7-H3, B7H3, B7RP-2	uc002avv.1	Q5ZPR3	OTTHUMG00000137585	ENST00000318443.5:c.1582+2T>C	15.37:g.74003513T>C		NA	Q6P5Y4|Q6UXI2|Q8NBI8|Q8NC34|Q8NCB6|Q9BXR1	37	CCDS32288.1	.	.	.	.	.	.	.	.	.	.	T	15.91	2.973409	0.53614	.	.	ENSG00000103855	ENST00000318424;ENST00000318443;ENST00000537340	.	.	.	4.17	4.17	0.49024	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0701	0.59057	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD276	71790566	1.000000	0.71417	0.999000	0.59377	0.858000	0.48976	4.423000	0.59861	1.756000	0.51951	0.459000	0.35465	.	CD276-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268979.1	Intron	+	ENST00000318443.5	Splice_Site	SNP	15 : 74003513 - 74003513 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	409	67
ABCA2	20	broad.mit.edu	37	9	139903317	139903317	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139903317G>A	ENST00000341511.6	-	47	6983	c.6934C>T	c.(6934-6936)Cgg>Tgg	p.R2312W	ABCA2_ENST00000265662.5_Missense_Mutation_p.R2312W|ABCA2_ENST00000371605.3_Missense_Mutation_p.R2311W	NM_001606.4|NM_212533.2	NP_001597|NP_997698.1	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2311					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GTGTGGTGCCGCTCCTGCAGG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	34	33			NA	NA	9		NA											NA				139903317		2078	4188	6266	SO:0001583	missense			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331	20	20		ATP binding cassette transporters / subfamily A	32	protein-coding gene	gene with protein product		600047		ABC2	NA	8088782	Standard	NM_001606	NM_212533	NA	Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000341511.6:c.6934C>T	9.37:g.139903317G>A	ENSP00000344155:p.Arg2312Trp	NA	A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	37	CCDS43909.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184237	0.57800	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511;ENST00000490486;ENST00000448336	D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76	3.89	2.97	0.34412	.	0.152893	0.43260	U	0.000591	D	0.89480	0.6727	M	0.76170	2.325	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.89827	0.3993	10	0.87932	D	0	.	12.308	0.54912	0.0:0.0:0.6968:0.3032	.	2311;2342	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	W	2312;2311;2342;2312;80;70	ENSP00000265662:R2312W;ENSP00000360666:R2311W;ENSP00000344155:R2312W;ENSP00000420360:R80W;ENSP00000406741:R70W	ENSP00000265662:R2312W	R	-	1	2	ABCA2	139023138	0.993000	0.37304	0.995000	0.50966	0.362000	0.29581	0.771000	0.26633	0.820000	0.34516	0.491000	0.48974	CGG	ABCA2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055199.2		-	ENST00000341511.6	Missense_Mutation	SNP	9 : 139903317 - 139903317 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	121	25
KIAA2022	340533	broad.mit.edu	37	X	73960434	73960434	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:73960434A>C	ENST00000055682.6	-	3	4569	c.3958T>G	c.(3958-3960)Ttg>Gtg	p.L1320V		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	NA					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ATGTTGGACAAGATATAGGAA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	107	109			NA	NA	X		NA											NA				73960434		2203	4300	6503	SO:0001583	missense				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030	340533	340533			29433	protein-coding gene	gene with protein product	XLMR-related protein, neurite extension	300524			NA	15466006, 23615299	Standard	NM_001008537	NM_001008537	NA	Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3958T>G	X.37:g.73960434A>C	ENSP00000055682:p.Leu1320Val	NA	A7YY87|Q5JUX9|Q8IVE9	37	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.672855	0.47781	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.42900	0.96;0.96	5.55	4.39	0.52855	.	0.078788	0.52532	D	0.000061	T	0.48187	0.1486	L	0.34521	1.04	0.51482	D	0.99992	D	0.89917	1.0	D	0.85130	0.997	T	0.50808	-0.8784	10	0.87932	D	0	-4.7705	6.1117	0.20104	0.7472:0.0:0.2528:0.0	.	1320	Q5QGS0	K2022_HUMAN	V	1320	ENSP00000362567:L1320V;ENSP00000055682:L1320V	ENSP00000055682:L1320V	L	-	1	2	KIAA2022	73877159	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.035000	0.49759	1.853000	0.53794	0.441000	0.28932	TTG	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057270.2		-	ENST00000055682.6	Missense_Mutation	SNP	X : 73960434 - 73960434 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	364	113
TSGA10	80705	broad.mit.edu	37	2	99681453	99681453	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99681453C>A	ENST00000393483.3	-	16	2197	c.1353G>T	c.(1351-1353)gaG>gaT	p.E451D	TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000410001.1_Missense_Mutation_p.E451D|TSGA10_ENST00000539964.1_Missense_Mutation_p.E451D|TSGA10_ENST00000355053.4_Missense_Mutation_p.E451D	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	451					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						ATCTGTTACCCTCTGCCTCAG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	141	144			NA	NA	2		NA											NA				99681453		2203	4300	6503	SO:0001583	missense			AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951	80705	80705			14927	protein-coding gene	gene with protein product	cancer/testis antigen 79	607166			NA	11179690	Standard	NM_182911	NM_025244	NA	Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.1353G>T	2.37:g.99681453C>A	ENSP00000377123:p.Glu451Asp	NA	D3DVH7|Q8NEP0|Q9BWX0	37	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.391315	0.62066	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482	T;T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46;2.46	5.3	4.42	0.53409	.	0.000000	0.64402	D	0.000001	T	0.24736	0.0600	L	0.29908	0.895	0.80722	D	1	D	0.67145	0.996	D	0.72625	0.978	T	0.02244	-1.1189	10	0.34782	T	0.22	-13.7504	8.0984	0.30842	0.0:0.8223:0.0:0.1777	.	451	Q9BZW7	TSG10_HUMAN	D	451	ENSP00000377123:E451D;ENSP00000386956:E451D;ENSP00000347161:E451D;ENSP00000444419:E451D;ENSP00000386508:E451D;ENSP00000377122:E451D	ENSP00000347161:E451D	E	-	3	2	TSGA10	99047885	0.992000	0.36948	1.000000	0.80357	0.996000	0.88848	2.021000	0.41020	1.476000	0.48215	0.585000	0.79938	GAG	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253125.1		-	ENST00000393483.3	Missense_Mutation	SNP	2 : 99681453 - 99681453 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	449	76
CTNNA1	1495	broad.mit.edu	37	5	138260271	138260271	+	Missense_Mutation	SNP	G	G	A	rs139655691	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138260271G>A	ENST00000518825.1	+	11	1621	c.1619G>A	c.(1618-1620)cGc>cAc	p.R540H	CTNNA1_ENST00000302763.7_Missense_Mutation_p.R540H|CTNNA1_ENST00000355078.5_Missense_Mutation_p.R437H|CTNNA1_ENST00000540387.1_Missense_Mutation_p.R170H			P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	540					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GGCCTGGACCGCACAGCTGGT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	0,4406		0,0,2203	55	50	52		1619	5.5	1	5	dbSNP_134	52	2,8598	2.2+/-6.3	0,2,4298	no	missense	CTNNA1	NM_001903.2	29	0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154	benign	540/907	138260271	2,13004	2203	4300	6503	SO:0001583	missense			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115	1495	1495			2509	protein-coding gene	gene with protein product		116805	catenin (cadherin-associated protein), alpha 1 (102kD)		NA	1924379	Standard	NM_001903	XM_005271898	NA	Approved	CAP102	uc003ldh.3	P35221		ENST00000518825.1:c.1619G>A	5.37:g.138260271G>A	ENSP00000427821:p.Arg540His	NA	Q12795	37		.	.	.	.	.	.	.	.	.	.	G	21.7	4.189748	0.78789	0.0	2.33E-4	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000540387	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.35248	0.0925	L	0.45285	1.41	0.80722	D	1	B;B;B	0.13594	0.008;0.005;0.001	B;B;B	0.16722	0.016;0.011;0.013	T	0.05818	-1.0862	10	0.29301	T	0.29	-9.4098	19.3816	0.94540	0.0:0.0:1.0:0.0	.	540;417;540	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	H	437;540;540;525;540;170	ENSP00000347190:R437H;ENSP00000304669:R540H;ENSP00000427821:R540H;ENSP00000438476:R170H	ENSP00000304669:R540H	R	+	2	0	CTNNA1	138288170	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.756000	0.94617	0.655000	0.94253	CGC	CTNNA1-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000373876.1		+	ENST00000518825.1	Missense_Mutation	SNP	5 : 138260271 - 138260271 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	204	35
WDR48	57599	broad.mit.edu	37	3	39116241	39116241	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39116241A>G	ENST00000302313.5	+	8	725	c.697A>G	c.(697-699)Aca>Gca	p.T233A	WDR48_ENST00000396258.3_Missense_Mutation_p.T151A|WDR48_ENST00000544962.1_Missense_Mutation_p.T25A|WDR48_ENST00000418020.1_5'UTR	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	233					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TTCTGATGGGACAATTCGCCT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	108	115			NA	NA	3		NA											NA				39116241		2203	4300	6503	SO:0001583	missense			AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742	57599	57599		WD repeat domain containing	30914	protein-coding gene	gene with protein product		612167			NA	10819331, 12196293, 24482476	Standard	NM_020839	NM_020839	NA	Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.697A>G	3.37:g.39116241A>G	ENSP00000307491:p.Thr233Ala	NA	B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	37	CCDS33738.1	.	.	.	.	.	.	.	.	.	.	A	34	5.361411	0.95877	.	.	ENSG00000114742	ENST00000302313;ENST00000544962;ENST00000396258	T;T;T	0.69435	-0.4;1.94;-0.4	5.86	5.86	0.93980	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81744	0.4887	M	0.79475	2.455	0.80722	D	1	D;P;P;P	0.56035	0.974;0.63;0.825;0.791	D;B;B;B	0.67725	0.953;0.287;0.394;0.41	D	0.83733	0.0199	10	0.66056	D	0.02	1.7488	16.2644	0.82568	1.0:0.0:0.0:0.0	.	25;151;224;233	Q8TAF3-5;Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;.;WDR48_HUMAN	A	233;25;151	ENSP00000307491:T233A;ENSP00000445187:T25A;ENSP00000379557:T151A	ENSP00000307491:T233A	T	+	1	0	WDR48	39091245	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.339000	0.96797	2.244000	0.73946	0.528000	0.53228	ACA	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342529.1		+	ENST00000302313.5	Missense_Mutation	SNP	3 : 39116241 - 39116241 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	377	65
TRMT5	57570	broad.mit.edu	37	14	61446005	61446005	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61446005C>T	ENST00000261249.6	-	2	995	c.611G>A	c.(610-612)gGa>gAa	p.G204E	RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	204						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		TGCAATATGTCCAATCCTGCT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	107	109			NA	NA	14		NA											NA				61446005		2203	4300	6503	SO:0001583	missense			AB037814	CCDS32092.1	14q23.1	2013-06-05	2013-06-05	2005-08-11		ENSG00000126814	57570	57570	2.1.1.228		23141	protein-coding gene	gene with protein product	tRNA (guanine(37)-N1)-methyltransferase	611023	KIAA1393, tRNA methyltransferase 5 homolog (S. cerevisiae)	KIAA1393	NA	15248782	Standard	NM_02081	XM_005267916	NA	Approved	TRM5	uc001xff.4	Q32P41		ENST00000261249.6:c.611G>A	14.37:g.61446005C>T	ENSP00000261249:p.Gly204Glu	NA	Q9P2F4	37	CCDS32092.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907767	0.92107	.	.	ENSG00000126814	ENST00000261249	T	0.64085	-0.08	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.87297	0.6142	H	0.97896	4.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92249	0.5807	10	0.87932	D	0	-26.7256	18.1347	0.89614	0.0:1.0:0.0:0.0	.	204	Q32P41	TRM5_HUMAN	E	204	ENSP00000261249:G204E	ENSP00000261249:G204E	G	-	2	0	TRMT5	60515758	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.295000	0.78780	2.489000	0.83994	0.655000	0.94253	GGA	TRMT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412831.1		-	ENST00000261249.6	Missense_Mutation	SNP	14 : 61446005 - 61446005 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	427	22
ZNF536	9745	broad.mit.edu	37	19	31040060	31040060	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:31040060C>T	ENST00000355537.3	+	4	3681	c.3534C>T	c.(3532-3534)aaC>aaT	p.N1178N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			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)					GGGAGAACAACGATGAAGAGG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	72	72			NA	NA	19		NA											NA				31040060		2203	4300	6503	SO:0001819	synonymous_variant				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.3534C>T	19.37:g.31040060C>T		NA	A2RU18	37	CCDS32984.1																																																																																			ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459667.2		+	ENST00000355537.3	Silent	SNP	19 : 31040060 - 31040060 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	449	94
SBF1	6305	broad.mit.edu	37	22	50899987	50899987	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50899987C>T	ENST00000380817.3	-	22	2987	c.2804G>A	c.(2803-2805)cGg>cAg	p.R935Q	SBF1_ENST00000390679.3_Missense_Mutation_p.R935Q|SBF1_ENST00000348911.6_Missense_Mutation_p.R936Q	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	NA	GRAM.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GAAGATGACCCGGTACGTGGT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	34	31			NA	NA	22		NA											NA				50899987		2024	4145	6169	SO:0001583	missense			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241	6305	6305		Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins, DENN/MADD domain containing, Pleckstrin homology (PH) domain containing	10542	protein-coding gene	gene with protein product	myotubularin related 5, DENN/MADD domain containing 7A	603560			NA	9537414, 9736772	Standard		NM_002972	NA	Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000380817.3:c.2804G>A	22.37:g.50899987C>T	ENSP00000370196:p.Arg935Gln	NA	A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	37	CCDS14091.2	.	.	.	.	.	.	.	.	.	.	C	35	5.423355	0.96111	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	D;D;D	0.86030	-2.06;-2.06;-2.06	3.96	3.96	0.45880	GRAM (2);	0.065333	0.64402	D	0.000018	D	0.92685	0.7675	M	0.85041	2.73	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.996;0.99	D	0.94148	0.7403	10	0.87932	D	0	.	15.801	0.78453	0.0:1.0:0.0:0.0	.	935;936;935	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	Q	935;936;945;935	ENSP00000370196:R935Q;ENSP00000252027:R936Q;ENSP00000375097:R935Q	ENSP00000336522:R945Q	R	-	2	0	SBF1	49246853	1.000000	0.71417	0.996000	0.52242	0.955000	0.61496	5.492000	0.66893	2.048000	0.60808	0.467000	0.42956	CGG	SBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316819.2		-	ENST00000380817.3	Missense_Mutation	SNP	22 : 50899987 - 50899987 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	247	10
EXT1	2131	broad.mit.edu	37	8	119122680	119122680	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:119122680G>A	ENST00000378204.2	-	1	1412	c.606C>T	c.(604-606)gaC>gaT	p.D202D		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	202					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CCTCGGTGTAGTCAGGCCAAG	0.458		NA	Mis, N, F, S			exostoses, osteosarcoma			Langer-Giedion syndrome;Hereditary Multiple Exostoses					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	0													63	74	70			NA	NA	8		NA											NA				119122680		2202	4300	6502	SO:0001819	synonymous_variant	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2131	2131	2.4.1.224, 2.4.1.225	Exostosin glycosyltransferase family	3512	protein-coding gene	gene with protein product	Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase, N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase	608177	Langer-Giedion syndrome chromosome region, exostoses (multiple) 1, exostosin 1	LGCR, LGS	NA		Standard	NM_000127	NM_000127	NA	Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.606C>T	8.37:g.119122680G>A		NA	B2R7V2|Q9BVI9	37	CCDS6324.1																																																																																			EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132768.3		-	ENST00000378204.2	Silent	SNP	8 : 119122680 - 119122680 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	724	128
KCNK1	3775	broad.mit.edu	37	1	233802529	233802529	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233802529G>A	ENST00000366621.3	+	2	712	c.544G>A	c.(544-546)Gtc>Atc	p.V182I	KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Missense_Mutation_p.V66I	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	182						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	GGTGGCCATCGTCCATGCCGT	0.607		NA											G	0	0	NA	NA	2184	NA	1	,	,	NA	2e-04	NA	NA	NA	0	0.05	EXOME	NA	NA	3e-04	SNP								NA				0													159	125	137			NA	NA	1		NA											NA				233802529		2203	4300	6503	SO:0001583	missense			U33632	CCDS1599.1	1q42-q43	2012-03-07			ENSG00000135750	ENSG00000135750	3775	3775		Potassium channels, Voltage-gated ion channels / Potassium channels, Two-P	6272	protein-coding gene	gene with protein product		601745			NA	8661042, 16382106	Standard	NM_002245	NM_002245	NA	Approved	K2p1.1, DPK, TWIK-1	uc010pxo.1	O00180	OTTHUMG00000037923	ENST00000366621.3:c.544G>A	1.37:g.233802529G>A	ENSP00000355580:p.Val182Ile	NA	Q13307|Q5T5E8	37	CCDS1599.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	10.11	1.259144	0.23051	.	.	ENSG00000135750	ENST00000366621;ENST00000366620;ENST00000446915	T;D;D	0.97430	1.92;-4.38;-4.38	5.91	4.81	0.61882	.	0.308108	0.36134	N	0.002768	D	0.88731	0.6516	N	0.03324	-0.35	0.36554	D	0.872027	B	0.11235	0.004	B	0.06405	0.002	D	0.84840	0.0807	10	0.07482	T	0.82	.	10.5251	0.44943	0.141:0.0:0.859:0.0	.	182	O00180	KCNK1_HUMAN	I	182;66;100	ENSP00000355580:V182I;ENSP00000355579:V66I;ENSP00000409626:V100I	ENSP00000355579:V66I	V	+	1	0	KCNK1	231869152	0.998000	0.40836	0.842000	0.33263	0.552000	0.35366	3.077000	0.50089	2.793000	0.96121	0.655000	0.94253	GTC	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092565.1		+	ENST00000366621.3	Missense_Mutation	SNP	1 : 233802529 - 233802529 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	516	156
SYNE2	23224	broad.mit.edu	37	14	64489508	64489508	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64489508A>G	ENST00000554584.1	+	37	5615	c.5564A>G	c.(5563-5565)aAa>aGa	p.K1855R	SYNE2_ENST00000344113.4_Missense_Mutation_p.K1855R|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.K1855R			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1855					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGCAACATTAAAGTGAACCTT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	42	43			NA	NA	14		NA											NA				64489508		1822	4080	5902	SO:0001583	missense			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654	23224	23224			17084	protein-coding gene	gene with protein product	nuclear envelope spectrin repeat-2, nucleus and actin connecting element	608442			NA	10231032, 10878022	Standard	NM_182914	NM_182910	NA	Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000554584.1:c.5564A>G	14.37:g.64489508A>G	ENSP00000452570:p.Lys1855Arg	NA	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	37		.	.	.	.	.	.	.	.	.	.	A	10.73	1.432125	0.25813	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.61627	0.48;0.48;0.09	5.75	4.6	0.57074	.	0.471996	0.19589	N	0.110667	T	0.44685	0.1305	L	0.27053	0.805	0.80722	D	1	B;B	0.14438	0.006;0.01	B;B	0.16722	0.007;0.016	T	0.32025	-0.9922	10	0.54805	T	0.06	.	10.5232	0.44931	0.9264:0.0:0.0736:0.0	.	1855;1855	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	R	1855	ENSP00000350719:K1855R;ENSP00000341781:K1855R;ENSP00000452570:K1855R	ENSP00000261678:K1855R	K	+	2	0	SYNE2	63559261	1.000000	0.71417	0.702000	0.30337	0.085000	0.17905	3.292000	0.51772	0.993000	0.38866	0.460000	0.39030	AAA	SYNE2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000411905.1		+	ENST00000554584.1	Missense_Mutation	SNP	14 : 64489508 - 64489508 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	168	8
SERPINB8	5271	broad.mit.edu	37	18	61650907	61650907	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61650907G>A	ENST00000397988.3	+	5	581	c.519G>A	c.(517-519)gaG>gaA	p.E173E	SERPINB8_ENST00000542677.1_5'UTR|SERPINB8_ENST00000397985.2_Silent_p.E173E|SERPINB8_ENST00000353706.2_Silent_p.E173E	NM_001031848.1	NP_001027018.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	173					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				AGTGGAATGAGCAATTTGACA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	119	121			NA	NA	18		NA											NA				61650907		2203	4300	6503	SO:0001819	synonymous_variant			L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401	5271	5271		Serine (or cysteine) peptidase inhibitors	8952	protein-coding gene	gene with protein product	cytoplasmic antiproteinase 2	601697	serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8	PI8	NA	8530382, 9268635, 24172014	Standard	NM_001031848	NM_198833	NA	Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397988.3:c.519G>A	18.37:g.61650907G>A		NA	Q7Z2V6	37	CCDS42442.1	.	.	.	.	.	.	.	.	.	.	G	3.149	-0.174580	0.06421	.	.	ENSG00000166401	ENST00000295211	.	.	.	5.65	-4.13	0.03904	.	.	.	.	.	T	0.18923	0.0454	.	.	.	0.19775	N	0.999952	.	.	.	.	.	.	T	0.28004	-1.0057	4	.	.	.	.	3.1715	0.06554	0.4879:0.0866:0.2433:0.1823	.	.	.	.	N	115	.	.	S	+	2	0	SERPINB8	59801887	0.000000	0.05858	0.012000	0.15200	0.538000	0.34931	-2.035000	0.01423	-0.698000	0.05085	-0.137000	0.14449	AGC	SERPINB8-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000134015.1		+	ENST00000397988.3	Silent	SNP	18 : 61650907 - 61650907 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	549	99
TRANK1	9881	broad.mit.edu	37	3	36897987	36897987	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36897987C>T	ENST00000428977.2	-	2	1719	c.1444G>A	c.(1444-1446)Ggg>Agg	p.G482R	TRANK1_ENST00000301807.6_Missense_Mutation_p.G482R|TRANK1_ENST00000429976.2_Missense_Mutation_p.G1032R			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1032					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCACTTCGCCCAATAAGGATG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	81	82			NA	NA	3		NA											NA				36897987		1966	4152	6118	SO:0001583	missense			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016	9881	9881		Ankyrin repeat domain containing, Tetratricopeptide (TTC) repeat domain containing	29011	protein-coding gene	gene with protein product	lupus brain antigen 1, KIAA0342				NA	9205841	Standard	NM_014831	NM_014831	NA	Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000428977.2:c.1444G>A	3.37:g.36897987C>T	ENSP00000416826:p.Gly482Arg	NA	Q8N8K0	37		.	.	.	.	.	.	.	.	.	.	C	19.99	3.929489	0.73327	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	D;D;D	0.90261	-2.64;-2.64;-2.64	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000008	D	0.95265	0.8464	M	0.75777	2.31	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.95552	0.8621	10	0.87932	D	0	.	19.0703	0.93130	0.0:1.0:0.0:0.0	.	1032	O15050	TRNK1_HUMAN	R	482;1032;482	ENSP00000416826:G482R;ENSP00000416168:G1032R;ENSP00000301807:G482R	ENSP00000301807:G482R	G	-	1	0	TRANK1	36872991	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.976000	0.70484	2.594000	0.87642	0.462000	0.41574	GGG	TRANK1-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000369655.1		-	ENST00000428977.2	Missense_Mutation	SNP	3 : 36897987 - 36897987 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	438	85
SEMA6A	57556	broad.mit.edu	37	5	115832009	115832009	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:115832009T>C	ENST00000343348.6	-	5	1067	c.280A>G	c.(280-282)Aaa>Gaa	p.K94E	SEMA6A_ENST00000510263.1_Splice_Site_p.K94E|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000503962.1_5'UTR|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000257414.8_Splice_Site_p.K94E	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	94	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		catgtcagtttctgcagggat	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	138	138			NA	NA	5		NA											NA				115832009		1847	4078	5925	SO:0001630	splice_region_variant			AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421		57556	57556		Semaphorins	10738	protein-coding gene	gene with protein product	sema VIa	605885		SEMAQ	NA	9204478, 10993894	Standard	NM_020796	XM_006714663	NA	Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.280-1A>G	5.37:g.115832009T>C		NA	Q9P2H9	37	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.108165	0.77096	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000510263;ENST00000515009;ENST00000509665	T;T;T;T;T	0.29397	2.79;2.79;2.79;1.57;1.57	6.16	6.16	0.99307	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	L	0.45698	1.435	0.80722	D	1	P;P	0.40266	0.71;0.662	P;B	0.47470	0.548;0.412	T	0.18650	-1.0330	10	0.72032	D	0.01	.	16.4675	0.84087	0.0:0.0:0.0:1.0	.	94;94	Q9H2E6;Q9H2E6-2	SEM6A_HUMAN;.	E	94	ENSP00000345512:K94E;ENSP00000257414:K94E;ENSP00000424388:K94E;ENSP00000421935:K94E;ENSP00000425553:K94E	ENSP00000257414:K94E	K	-	1	0	SEMA6A	115859908	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.367000	0.80283	0.528000	0.53228	AAA	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000371270.1	Missense_Mutation	-	ENST00000343348.6	Splice_Site	SNP	5 : 115832009 - 115832009 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	496	98
XKR3	150165	broad.mit.edu	37	22	17288713	17288713	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17288713A>G	ENST00000331428.5	-	2	353	c.251T>C	c.(250-252)aTc>aCc	p.I84T		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	84						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AAACATCAGGATAATTTGATC	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	82	84			NA	NA	22		NA											NA				17288713		1832	4081	5913	SO:0001583	missense			AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967	150165	150165			28778	protein-coding gene	gene with protein product		611674	X Kell blood group precursor-related family, member 3		NA	16431037	Standard	NM_175878	NM_175878	NA	Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.251T>C	22.37:g.17288713A>G	ENSP00000331704:p.Ile84Thr	NA	B2RPN1|Q52PG8|Q8N7E1	37	CCDS42975.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-2.902450	0.00058	.	.	ENSG00000172967	ENST00000331428	T	0.61274	0.12	0.539	-1.08	0.09936	.	0.225560	0.35646	U	0.003072	T	0.15046	0.0363	N	0.00313	-1.665	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32079	-0.9920	10	0.13108	T	0.6	.	4.5592	0.12152	0.4621:0.0:0.5379:0.0	.	84	Q5GH77	XKR3_HUMAN	T	84	ENSP00000331704:I84T	ENSP00000331704:I84T	I	-	2	0	XKR3	15668713	0.919000	0.31177	0.010000	0.14722	0.048000	0.14542	0.251000	0.18257	-0.642000	0.05480	-0.779000	0.03376	ATC	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000289789.1		-	ENST00000331428.5	Missense_Mutation	SNP	22 : 17288713 - 17288713 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	438	93
TDRD5	163589	broad.mit.edu	37	1	179564779	179564779	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179564779G>A	ENST00000367614.1	+	4	1016	c.657G>A	c.(655-657)caG>caA	p.Q219Q	TDRD5_ENST00000294848.8_Silent_p.Q219Q|TDRD5_ENST00000444136.1_Silent_p.Q219Q	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	219	Lotus/OST-HTH 2.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TTTTTACCCAGCCATTTAGAA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	57	56			NA	NA	1		NA											NA				179564779		2203	4300	6503	SO:0001819	synonymous_variant			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782	163589	163589		Tudor domain containing	20614	protein-coding gene	gene with protein product					NA		Standard	NM_173533	NM_001199085	NA	Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.657G>A	1.37:g.179564779G>A		NA	A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	37	CCDS1332.1																																																																																			TDRD5-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085295.1		+	ENST00000367614.1	Silent	SNP	1 : 179564779 - 179564779 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	383	98
NXPE2	120406	broad.mit.edu	37	11	114569326	114569326	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:114569326G>A	ENST00000375475.5	+	3	790	c.692G>A	c.(691-693)tGt>tAt	p.C231Y	NXPE2_ENST00000389586.4_Missense_Mutation_p.C231Y					neurexophilin and PC-esterase domain family, member 2	NA											NA						TTCACTGAATGTGGCCTGACC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	82	85			NA	NA	11		NA											NA				114569326		692	1591	2283	SO:0001583	missense			AK057953	CCDS44738.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000204361	ENSG00000204361	120406	120406			26331	protein-coding gene	gene with protein product			family with sequence similarity 55, member B	FAM55B	NA		Standard	NM_182495	NM_182495	NA	Approved	FLJ25224	uc009yyy.2	Q96DL1	OTTHUMG00000168293	ENST00000375475.5:c.692G>A	11.37:g.114569326G>A	ENSP00000364624:p.Cys231Tyr	NA		37		.	.	.	.	.	.	.	.	.	.	G	20.2	3.943844	0.73672	.	.	ENSG00000204361	ENST00000389586;ENST00000375475;ENST00000505358	T;T	0.33865	1.99;1.39	4.55	3.63	0.41609	.	0.000000	0.64402	D	0.000005	T	0.66446	0.2790	H	0.95679	3.705	0.46458	D	0.999052	D	0.59357	0.985	P	0.62560	0.904	T	0.74928	-0.3497	10	0.66056	D	0.02	.	11.7228	0.51691	0.0:0.0:0.8222:0.1778	.	231	Q96DL1	FA55B_HUMAN	Y	231	ENSP00000374237:C231Y;ENSP00000364624:C231Y	ENSP00000364624:C231Y	C	+	2	0	FAM55B	114074536	1.000000	0.71417	0.695000	0.30226	0.478000	0.33099	3.379000	0.52440	0.890000	0.36211	0.591000	0.81541	TGT	NXPE2-002	PUTATIVE	non_canonical_U12|basic	protein_coding	NA	protein_coding	OTTHUMT00000399182.3		+	ENST00000375475.5	Missense_Mutation	SNP	11 : 114569326 - 114569326 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	295	16
ZNF423	23090	broad.mit.edu	37	16	49557603	49557603	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:49557603C>T	ENST00000561648.1	-	7	3810	c.3757G>A	c.(3757-3759)Ggg>Agg	p.G1253R	ZNF423_ENST00000262383.2_Missense_Mutation_p.G1253R|ZNF423_ENST00000562520.1_Missense_Mutation_p.G1193R|ZNF423_ENST00000535559.1_Missense_Mutation_p.G1136R|ZNF423_ENST00000567169.1_Missense_Mutation_p.G1136R|ZNF423_ENST00000562871.1_Missense_Mutation_p.G1193R|ZNF423_ENST00000563137.2_Missense_Mutation_p.G1193R	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1253					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.G1253W(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TCCTCCTGCCCGTGCACGGCA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(2)											173	119	137			NA	NA	16		NA											NA				49557603		2199	4300	6499	SO:0001583	missense			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935	23090	23090		Zinc fingers, C2H2-type	16762	protein-coding gene	gene with protein product	OLF-1/EBF associated zinc finger gene,  Smad- and Olf-interacting zinc finger protein, early B-cell factor associated zinc finger protein	604557			NA	9872452, 10660046	Standard	NM_015069	NM_001271620	NA	Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.3757G>A	16.37:g.49557603C>T	ENSP00000455426:p.Gly1253Arg	NA	O94860|Q76N04|Q9NZ13	37	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	32	5.129607	0.94473	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.35605	1.3;1.3	5.41	5.41	0.78517	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.47783	0.1464	N	0.24115	0.695	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.37888	-0.9686	9	.	.	.	-19.3624	19.1919	0.93671	0.0:1.0:0.0:0.0	.	1253	Q2M1K9	ZN423_HUMAN	R	1253;1136	ENSP00000262383:G1253R;ENSP00000442321:G1136R	.	G	-	1	0	ZNF423	48115104	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	7.480000	0.81109	2.532000	0.85374	0.561000	0.74099	GGG	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000423258.1		-	ENST00000561648.1	Missense_Mutation	SNP	16 : 49557603 - 49557603 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	314	13
NEUROG1	4762	broad.mit.edu	37	5	134871080	134871080	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134871080C>T	ENST00000314744.4	-	1	559	c.301G>A	c.(301-303)Gag>Aag	p.E101K		NM_006161.2	NP_006152.2	Q92886	NGN1_HUMAN	neurogenin 1	101					positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	nucleus	chromatin binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			endometrium(1)|liver(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGGTTGCGCTCGCGATCGTTG	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	35	34			NA	NA	5		NA											NA				134871080		2203	4299	6502	SO:0001583	missense			U63842	CCDS4187.1	5q23-q31	2013-05-21			ENSG00000181965	ENSG00000181965	4762	4762		Basic helix-loop-helix proteins	7764	protein-coding gene	gene with protein product	neurogenic differentiation 3	601726		NEUROD3	NA	9119405	Standard	NM_006161	NM_006161	NA	Approved	AKA, Math4C, ngn1, bHLHa6	uc003lax.3	Q92886	OTTHUMG00000129138	ENST00000314744.4:c.301G>A	5.37:g.134871080C>T	ENSP00000317580:p.Glu101Lys	NA	Q5U0Q9|Q96HE1	37	CCDS4187.1	.	.	.	.	.	.	.	.	.	.	c	32	5.156516	0.94686	.	.	ENSG00000181965	ENST00000314744	D	0.99730	-6.56	4.71	4.71	0.59529	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	H	0.97390	3.995	0.80722	D	1	D	0.65815	0.995	D	0.65140	0.932	D	0.96672	0.9497	10	0.66056	D	0.02	-23.8708	17.6476	0.88153	0.0:1.0:0.0:0.0	.	101	Q92886	NGN1_HUMAN	K	101	ENSP00000317580:E101K	ENSP00000317580:E101K	E	-	1	0	NEUROG1	134898979	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.696000	0.84270	2.158000	0.67659	0.651000	0.88453	GAG	NEUROG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251192.1		-	ENST00000314744.4	Missense_Mutation	SNP	5 : 134871080 - 134871080 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	109	22
POLA2	23649	broad.mit.edu	37	11	65063055	65063055	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65063055T>C	ENST00000265465.3	+	16	2036	c.1505T>C	c.(1504-1506)aTc>aCc	p.I502T	POLA2_ENST00000541089.1_Missense_Mutation_p.I294T|POLA2_ENST00000534785.1_3'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	502					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|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	CTCAAGCACATCTTGACCCAG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	81	83			NA	NA	11		NA											NA				65063055		2201	4297	6498	SO:0001583	missense			BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138	23649	23649		DNA polymerases	30073	protein-coding gene	gene with protein product	DNA polymerase alpha subunit B, DNA polymerase alpha 70 kDa subunit		polymerase (DNA directed), alpha 2 (70kD subunit)		NA	8223465, 11433027	Standard	NM_002689	NM_002689	NA	Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.1505T>C	11.37:g.65063055T>C	ENSP00000265465:p.Ile502Thr	NA	Q9BPV3	37	CCDS8098.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.1|21.1	4.091466|4.091466	0.76756|0.76756	.|.	.|.	ENSG00000014138|ENSG00000014138	ENST00000265465;ENST00000541089|ENST00000525924	T;T|.	0.37752|.	1.18;1.18|.	5.06|5.06	5.06|5.06	0.68205|0.68205	DNA polymerase alpha/epsilon, subunit B (1);|.	0.088707|.	0.85682|.	D|.	0.000000|.	T|T	0.76292|0.76292	0.3967|0.3967	M|M	0.83774|0.83774	2.66|2.66	0.52099|0.52099	D|D	0.999947|0.999947	P;P|.	0.42556|.	0.629;0.783|.	B;P|.	0.45577|.	0.405;0.486|.	T|T	0.78685|0.78685	-0.2108|-0.2108	10|5	0.72032|.	D|.	0.01|.	-24.0439|-24.0439	12.7672|12.7672	0.57399|0.57399	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	294;502|.	B4DNB4;Q14181|.	.;DPOA2_HUMAN|.	T|P	502;294|172	ENSP00000265465:I502T;ENSP00000443222:I294T|.	ENSP00000265465:I502T|.	I|S	+|+	2|1	0|0	POLA2|POLA2	64819631|64819631	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.937000|0.937000	0.57800|0.57800	6.680000|6.680000	0.74518|0.74518	1.911000|1.911000	0.55334|0.55334	0.379000|0.379000	0.24179|0.24179	ATC|TCT	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387223.1		+	ENST00000265465.3	Missense_Mutation	SNP	11 : 65063055 - 65063055 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	373	74
SLC39A4	55630	broad.mit.edu	37	8	145638654	145638654	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145638654C>T	ENST00000276833.5	-	9	1822	c.1519G>A	c.(1519-1521)Gcc>Acc	p.A507T	SLC39A4_ENST00000301305.3_Missense_Mutation_p.A532T|SLC39A4_ENST00000531013.1_5'UTR	NM_001280557.1|NM_017767.2	NP_001267486.1|NP_060237	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	532						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CAGAACACGGCCAGCGAGGTG	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													8	11	10			NA	NA	8		NA											NA				145638654		2159	4234	6393	SO:0001583	missense			AK025537	CCDS6424.1, CCDS43782.1	8q24.3	2013-05-22			ENSG00000147804	ENSG00000147804	55630	55630		Solute carriers	17129	protein-coding gene	gene with protein product		607059	acrodermatitis enteropathica, zinc-deficiency type	AEZ	NA	12801924, 12659941, 14709598	Standard		NM_017767	NA	Approved	ZIP4, AWMS2	uc003zcq.3	Q6P5W5		ENST00000276833.5:c.1519G>A	8.37:g.145638654C>T	ENSP00000276833:p.Ala507Thr	NA	Q7L5S5|Q9H6T8|Q9NXC4	37	CCDS43782.1	.	.	.	.	.	.	.	.	.	.	C	37	6.018510	0.97205	.	.	ENSG00000147804	ENST00000276833;ENST00000301305	T;T	0.68331	-0.32;-0.32	4.62	4.62	0.57501	.	0.053289	0.85682	D	0.000000	T	0.79919	0.4529	M	0.66297	2.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.82608	-0.0373	10	0.87932	D	0	-24.9186	14.9999	0.71464	0.0:1.0:0.0:0.0	.	532;507;532	Q6P5W5;A6NDY5;A8K3E8	S39A4_HUMAN;.;.	T	507;532	ENSP00000276833:A507T;ENSP00000301305:A532T	ENSP00000276833:A507T	A	-	1	0	SLC39A4	145609462	1.000000	0.71417	0.992000	0.48379	0.872000	0.50106	5.674000	0.68117	2.126000	0.65437	0.456000	0.33151	GCC	SLC39A4-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382687.2		-	ENST00000276833.5	Missense_Mutation	SNP	8 : 145638654 - 145638654 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	76	10
ITPR1	3708	broad.mit.edu	37	3	4683897	4683897	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4683897A>C	ENST00000357086.4	+	7	835	c.487A>C	c.(487-489)Att>Ctt	p.I163L	ITPR1_ENST00000354582.6_Missense_Mutation_p.I163L|ITPR1_ENST00000302640.8_Missense_Mutation_p.I163L|ITPR1_ENST00000456211.2_Missense_Mutation_p.I163L|ITPR1_ENST00000423119.2_Missense_Mutation_p.I163L|ITPR1_ENST00000544951.1_Missense_Mutation_p.I163L|ITPR1_ENST00000443694.2_Missense_Mutation_p.I163L			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	163	MIR 1.				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CTGGTTTTATATTCAGCCATT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	99	98			NA	NA	3		NA											NA				4683897		1992	4172	6164	SO:0001583	missense			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995	3708	3708		Ion channels / Inositol triphosphate receptors	6180	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 94	147265	spinocerebellar ataxia 15, spinocerebellar ataxia 16, spinocerebellar ataxia 29	SCA15, SCA16, SCA29	NA	7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_002222	NM_001099952	NA	Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000357086.4:c.487A>C	3.37:g.4683897A>C	ENSP00000349597:p.Ile163Leu	NA	Q14660|Q99897	37	CCDS46740.2	.	.	.	.	.	.	.	.	.	.	A	16.94	3.262091	0.59431	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.99105	-5.43;-5.43;-5.43;-5.43;-5.43;-5.43;-5.43	5.28	5.28	0.74379	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR motif (2);MIR (1);	0.000000	0.85682	D	0.000000	D	0.99399	0.9788	M	0.88842	2.985	0.40237	D	0.977915	B;B;P;B;B	0.41159	0.066;0.016;0.74;0.008;0.011	B;B;D;B;B	0.69824	0.263;0.419;0.966;0.325;0.192	D	0.98681	1.0692	10	0.62326	D	0.03	.	15.2445	0.73497	1.0:0.0:0.0:0.0	.	163;163;163;163;163	B7ZMI3;E7EPX7;Q14643;E7EVP7;G5E9P1	.;.;ITPR1_HUMAN;.;.	L	163	ENSP00000306253:I163L;ENSP00000346595:I163L;ENSP00000405934:I163L;ENSP00000349597:I163L;ENSP00000397885:I163L;ENSP00000440564:I163L;ENSP00000401671:I163L	ENSP00000306253:I163L	I	+	1	0	ITPR1	4658897	1.000000	0.71417	0.818000	0.32626	0.387000	0.30353	7.423000	0.80229	1.997000	0.58415	0.533000	0.62120	ATT	ITPR1-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337979.3		+	ENST00000357086.4	Missense_Mutation	SNP	3 : 4683897 - 4683897 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	198	16
BAHD1	22893	broad.mit.edu	37	15	40754438	40754438	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40754438G>A	ENST00000561234.1	+	3	2016	c.1757G>A	c.(1756-1758)cGc>cAc	p.R586H	BAHD1_ENST00000416165.1_Missense_Mutation_p.R587H|BAHD1_ENST00000560846.1_Missense_Mutation_p.R587H			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	587	Arg-rich.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CGTCGCCGCCGCACTAATGGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	86	82			NA	NA	15		NA											NA				40754438		2154	4204	6358	SO:0001583	missense			AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320	22893	22893			29153	protein-coding gene	gene with protein product		613880			NA	10231032	Standard	NM_014952	XM_005254229	NA	Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000561234.1:c.1757G>A	15.37:g.40754438G>A	ENSP00000454150:p.Arg586His	NA	Q8NDF7|Q9Y2F4	37		.	.	.	.	.	.	.	.	.	.	g	16.85	3.235644	0.58886	.	.	ENSG00000140320	ENST00000416165	T	0.18016	2.24	5.74	3.82	0.43975	.	0.250811	0.38436	N	0.001682	T	0.15912	0.0383	N	0.08118	0	0.24179	N	0.995593	D;D;D	0.71674	0.998;0.997;0.998	P;P;P	0.58660	0.843;0.7;0.843	T	0.04481	-1.0948	10	0.52906	T	0.07	-13.8077	9.1975	0.37237	0.0:0.3781:0.5076:0.1143	.	587;587;586	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	H	587	ENSP00000396976:R587H	ENSP00000396976:R587H	R	+	2	0	BAHD1	38541730	0.995000	0.38212	1.000000	0.80357	0.559000	0.35586	3.604000	0.54081	1.460000	0.47911	-0.196000	0.12772	CGC	BAHD1-002	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000418756.1		+	ENST00000561234.1	Missense_Mutation	SNP	15 : 40754438 - 40754438 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	918	201
SLC6A11	6538	broad.mit.edu	37	3	10970960	10970960	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10970960C>T	ENST00000254488.2	+	10	1372	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	436					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GGGTTACCGGCGGGAGCTGCT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													206	199	201			NA	NA	3		NA											NA				10970960		2203	4300	6503	SO:0001583	missense			S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164	6538	6538		Solute carriers	11044	protein-coding gene	gene with protein product	GABA transporter 3	607952	solute carrier family 6 (neurotransmitter transporter, GABA), member 11		NA	7874447	Standard	NM_014229	NM_014229	NA	Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1306C>T	3.37:g.10970960C>T	ENSP00000254488:p.Arg436Trp	NA	B2R6U6	37	CCDS2602.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772455	0.69992	.	.	ENSG00000132164	ENST00000254488	D	0.82167	-1.58	5.12	4.21	0.49690	.	0.000000	0.85682	D	0.000000	D	0.94473	0.8221	H	0.98918	4.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95915	0.8926	10	0.87932	D	0	.	13.2142	0.59849	0.3593:0.6407:0.0:0.0	.	436	P48066	S6A11_HUMAN	W	436	ENSP00000254488:R436W	ENSP00000254488:R436W	R	+	1	2	SLC6A11	10945960	0.203000	0.23435	1.000000	0.80357	0.995000	0.86356	0.322000	0.19576	2.376000	0.81061	0.462000	0.41574	CGG	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251927.1		+	ENST00000254488.2	Missense_Mutation	SNP	3 : 10970960 - 10970960 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1180	234
SMYD5	10322	broad.mit.edu	37	2	73449901	73449901	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73449901C>T	ENST00000389501.4	+	7	706	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	221							metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						GGAACTTCTGCGGAGACTCTT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	40	41			NA	NA	2		NA											NA				73449901		2203	4300	6503	SO:0001583	missense			U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632	10322	10322		Zinc fingers, MYND-type	16258	protein-coding gene	gene with protein product			retinoic acid induced 15	RAI15	NA	8754834	Standard	NM_006062	NM_006062	NA	Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.661C>T	2.37:g.73449901C>T	ENSP00000374152:p.Arg221Trp	NA	D6W5H3|Q13558	37	CCDS33221.2	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905965	0.72868	.	.	ENSG00000135632	ENST00000389501	T	0.47869	0.83	4.6	2.59	0.31030	SET domain (2);	0.180314	0.48767	D	0.000175	T	0.62392	0.2424	M	0.77103	2.36	0.39539	D	0.968782	D	0.71674	0.998	P	0.60886	0.88	T	0.66152	-0.5995	10	0.35671	T	0.21	-9.9667	12.5013	0.55957	0.2975:0.7025:0.0:0.0	.	221	Q6GMV2	SMYD5_HUMAN	W	221	ENSP00000374152:R221W	ENSP00000374152:R221W	R	+	1	2	SMYD5	73303409	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.396000	0.44468	1.242000	0.43836	0.561000	0.74099	CGG	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318301.1		+	ENST00000389501.4	Missense_Mutation	SNP	2 : 73449901 - 73449901 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	117	13
PRSS1	5644	broad.mit.edu	37	7	142460861	142460861	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142460861C>T	ENST00000486171.1	+	6	793	c.776C>T	c.(775-777)gCc>gTc	p.A259V	PRSS1_ENST00000311737.7_Missense_Mutation_p.A245V			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	245					digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			ACCATAGCTGCCAATAGCTAA	0.488		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	7		NA											NA				142460861		2203	4300	6503	SO:0001583	missense			M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	5644	5644	3.4.21.4	Serine peptidases / Serine peptidases	9475	protein-coding gene	gene with protein product		276000		TRY1	NA		Standard		NM_002769	NA	Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000486171.1:c.776C>T	7.37:g.142460861C>T	ENSP00000417854:p.Ala259Val	NA	A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	37		.	.	.	.	.	.	.	.	.	.	C	9.141	1.013962	0.19277	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243	D;D	0.88818	-2.43;-2.42	3.18	2.24	0.28232	Peptidase cysteine/serine, trypsin-like (1);	0.152972	0.64402	D	0.000014	D	0.82674	0.5088	L	0.35644	1.08	0.38549	D	0.949409	B;B	0.18968	0.032;0.032	B;B	0.17098	0.017;0.015	T	0.78548	-0.2162	10	0.59425	D	0.04	.	11.2031	0.48754	0.0:0.8106:0.1894:0.0	.	259;245	E7EQ64;P07477	.;TRY1_HUMAN	V	259;245;235	ENSP00000417854:A259V;ENSP00000308720:A245V	ENSP00000308720:A245V	A	+	2	0	PRSS1	142140435	0.510000	0.26171	0.780000	0.31762	0.016000	0.09150	0.322000	0.19576	0.580000	0.29522	0.195000	0.17529	GCC	PRSS1-003	NOVEL	not_best_in_genome_evidence|basic	protein_coding	NA	protein_coding	OTTHUMT00000352540.2		+	ENST00000486171.1	Missense_Mutation	SNP	7 : 142460861 - 142460861 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	476	62
USP50	373509	broad.mit.edu	37	15	50822088	50822088	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50822088G>A	ENST00000532404.1	-	6	1015	c.842C>T	c.(841-843)aCg>aTg	p.T281M	USP50_ENST00000530218.1_5'UTR	NM_203494.4	NP_987090.2	E9PP86	E9PP86_HUMAN	ubiquitin specific peptidase 50	281					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		ATGAATATCCGTTCTCAGCTT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													207	185	192			NA	NA	15		NA											NA				50822088		1832	4090	5922	SO:0001583	missense			AI990110	CCDS53944.1	15q21.1	2008-02-05	2005-08-08			ENSG00000170236	373509	373509		Ubiquitin-specific peptidases	20079	protein-coding gene	gene with protein product			ubiquitin specific protease 50		NA	12838346	Standard		NM_203494	NA	Approved		uc021sky.1	Q70EL3		ENST00000532404.1:c.842C>T	15.37:g.50822088G>A	ENSP00000434676:p.Thr281Met	NA		37	CCDS53944.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.194840	0.58017	.	.	ENSG00000170236	ENST00000532404	T	0.32753	1.44	5.66	4.75	0.60458	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.194190	0.43416	D	0.000575	T	0.54515	0.1863	M	0.81497	2.545	0.34114	D	0.663346	D	0.89917	1.0	D	0.69824	0.966	T	0.70676	-0.4806	10	0.72032	D	0.01	-8.1603	10.7927	0.46443	0.0878:0.0:0.9122:0.0	.	286	Q70EL3	UBP50_HUMAN	M	281	ENSP00000434676:T281M	ENSP00000434676:T281M	T	-	2	0	USP50	48609380	0.999000	0.42202	0.872000	0.34217	0.840000	0.47671	4.049000	0.57397	1.406000	0.46857	-0.143000	0.13931	ACG	USP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395249.1		-	ENST00000532404.1	Missense_Mutation	SNP	15 : 50822088 - 50822088 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	431	75
ARL4A	10124	broad.mit.edu	37	7	12728429	12728429	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:12728429G>A	ENST00000396663.1	+	2	1032	c.550G>A	c.(550-552)Gat>Aat	p.D184N	ARL4A_ENST00000356797.3_Missense_Mutation_p.D184N|ARL4A_ENST00000396664.2_Missense_Mutation_p.D184N|ARL4A_ENST00000404894.1_Missense_Mutation_p.D184N|ARL4A_ENST00000396662.1_Missense_Mutation_p.D184N	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	184					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		GAAACTACATGATATGATCAT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	50	50			NA	NA	7		NA											NA				12728429		2199	4287	6486	SO:0001583	missense			U73960	CCDS5359.1	7p21.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000122644	ENSG00000122644	10124	10124		ADP-ribosylation factors-like, ADP-ribosylation factors	695	protein-coding gene	gene with protein product		604786	ADP-ribosylation factor-like 4	ARL4	NA		Standard	NM_005738	NM_212460	NA	Approved		uc003ssq.3	P40617	OTTHUMG00000023374	ENST00000396663.1:c.550G>A	7.37:g.12728429G>A	ENSP00000379898:p.Asp184Asn	NA	A4D119|P80418|Q49AF5	37	CCDS5359.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037124	0.35893	.	.	ENSG00000122644	ENST00000396662;ENST00000356797;ENST00000396664;ENST00000396663;ENST00000404894	D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66	4.58	3.69	0.42338	.	0.430161	0.24601	N	0.037122	T	0.70193	0.3196	N	0.17379	0.485	0.37735	D	0.92541	P	0.40731	0.728	B	0.43701	0.428	T	0.69558	-0.5113	10	0.02654	T	1	.	12.8581	0.57897	0.0794:0.0:0.9206:0.0	.	184	P40617	ARL4A_HUMAN	N	184	ENSP00000379897:D184N;ENSP00000349250:D184N;ENSP00000379899:D184N;ENSP00000379898:D184N;ENSP00000385236:D184N	ENSP00000349250:D184N	D	+	1	0	ARL4A	12694954	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.434000	0.66526	1.273000	0.44346	0.585000	0.79938	GAT	ARL4A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326036.1		+	ENST00000396663.1	Missense_Mutation	SNP	7 : 12728429 - 12728429 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	494	91
NWD1	284434	broad.mit.edu	37	19	16899861	16899861	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16899861C>T	ENST00000524140.2	+	13	3218	c.2800C>T	c.(2800-2802)Ctg>Ttg	p.L934L	NWD1_ENST00000549814.1_Silent_p.L934L|NWD1_ENST00000523826.1_Silent_p.L728L|NWD1_ENST00000552788.1_Silent_p.L934L|NWD1_ENST00000339803.6_Silent_p.L799L|NWD1_ENST00000379808.3_Silent_p.L934L	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	934							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGATTACACGCTGCACTTGTG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	111	112			NA	NA	19		NA											NA				16899861		2203	4300	6503	SO:0001819	synonymous_variant			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039	284434	284434		WD repeat domain containing	27619	protein-coding gene	gene with protein product					NA		Standard	NM_001007525	NM_001007525	NA	Approved		uc002neu.4	Q149M9		ENST00000524140.2:c.2800C>T	19.37:g.16899861C>T		NA	C9J021|Q68CT3	37	CCDS32945.2																																																																																			NWD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379040.3		+	ENST00000524140.2	Silent	SNP	19 : 16899861 - 16899861 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	458	100
WDR55	54853	broad.mit.edu	37	5	140049193	140049193	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140049193C>A	ENST00000358337.5	+	7	1343	c.1106C>A	c.(1105-1107)tCc>tAc	p.S369Y	WDR55_ENST00000520764.1_3'UTR	NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	369					rRNA processing	cytoplasm|nucleolus				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAAGACTCCATGGCTCAG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	47	47			NA	NA	5		NA											NA				140049193		2203	4300	6503	SO:0001583	missense			AK000202	CCDS4235.1	5q31.3	2013-01-09			ENSG00000120314	ENSG00000120314	54853	54853		WD repeat domain containing	25971	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_017706	NM_017706	NA	Approved	FLJ20195, FLJ21702	uc003lgr.4	Q9H6Y2	OTTHUMG00000129506	ENST00000358337.5:c.1106C>A	5.37:g.140049193C>A	ENSP00000351100:p.Ser369Tyr	NA	Q9NXK4	37	CCDS4235.1	.	.	.	.	.	.	.	.	.	.	C	4.703	0.130747	0.08981	.	.	ENSG00000120314	ENST00000358337	T	0.30448	1.53	5.08	3.28	0.37604	.	2.952420	0.01434	U	0.014845	T	0.23926	0.0579	N	0.19112	0.55	0.09310	N	1	B	0.15141	0.012	B	0.16722	0.016	T	0.20140	-1.0284	10	0.62326	D	0.03	1.6088	5.5687	0.17184	0.2574:0.5876:0.0:0.155	.	369	Q9H6Y2	WDR55_HUMAN	Y	369	ENSP00000351100:S369Y	ENSP00000351100:S369Y	S	+	2	0	WDR55	140029377	0.000000	0.05858	0.031000	0.17742	0.426000	0.31534	1.067000	0.30616	1.124000	0.41980	-0.444000	0.05651	TCC	WDR55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251680.3		+	ENST00000358337.5	Missense_Mutation	SNP	5 : 140049193 - 140049193 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	172	30
MTRR	4552	broad.mit.edu	37	5	7897209	7897209	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7897209A>G	ENST00000264668.2	+	14	1912	c.1882A>G	c.(1882-1884)Atc>Gtc	p.I628V	MTRR_ENST00000440940.2_Missense_Mutation_p.I601V	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	628					methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	TAAGCATGGGATCTTAACTCA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	63	62			NA	NA	5		NA											NA				7897209		2203	4300	6503	SO:0001583	missense			AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	4552	4552	1.16.1.8		7473	protein-coding gene	gene with protein product		602568			NA	9501215	Standard		NM_024010	NA	Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.1882A>G	5.37:g.7897209A>G	ENSP00000264668:p.Ile628Val	NA	O60471|Q32MA9|Q7Z4M8	37	CCDS3874.1	.	.	.	.	.	.	.	.	.	.	A	0.888	-0.726317	0.03158	.	.	ENSG00000124275	ENST00000264668;ENST00000440940	D;D	0.86366	-2.11;-2.11	5.4	-3.84	0.04256	Oxidoreductase FAD/NAD(P)-binding (1);	0.686685	0.14816	N	0.296751	T	0.64371	0.2592	N	0.02960	-0.455	0.19300	N	0.99997	B	0.09022	0.002	B	0.12156	0.007	T	0.56141	-0.8028	10	0.02654	T	1	-11.5564	13.6269	0.62170	0.3905:0.0:0.6095:0.0	.	628	Q9UBK8	MTRR_HUMAN	V	628;601	ENSP00000264668:I628V;ENSP00000402510:I601V	ENSP00000264668:I628V	I	+	1	0	MTRR	7950209	0.003000	0.15002	0.002000	0.10522	0.031000	0.12232	0.907000	0.28531	-0.889000	0.03950	0.533000	0.62120	ATC	MTRR-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206931.1		+	ENST00000264668.2	Missense_Mutation	SNP	5 : 7897209 - 7897209 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	333	49
SH3GL3	6457	broad.mit.edu	37	15	84257442	84257442	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:84257442C>T	ENST00000324537.5	+	11	1273	c.781C>T	c.(781-783)Cga>Tga	p.R261*	SH3GL3_ENST00000427482.2_Nonsense_Mutation_p.R253*|SH3GL3_ENST00000535412.1_Nonsense_Mutation_p.R253*|SH3GL3_ENST00000434347.1_Nonsense_Mutation_p.R261*			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	253					central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TGTCCCCAGACGAGAATACAA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	96	108			NA	NA	15		NA											NA				84257442		2203	4300	6503	SO:0001587	stop_gained			AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600	6457	6457			10832	protein-coding gene	gene with protein product		603362			NA	9169142	Standard	NM_003027	NR_026799	NA	Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000324537.5:c.781C>T	15.37:g.84257442C>T	ENSP00000320092:p.Arg261*	NA	O43553|O43554	37		.	.	.	.	.	.	.	.	.	.	C	41	9.023893	0.99040	.	.	ENSG00000140600	ENST00000427482;ENST00000535412;ENST00000324537;ENST00000434347	.	.	.	4.34	1.3	0.21679	.	0.307812	0.31134	N	0.008189	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.6336	10.1325	0.42687	0.5339:0.4661:0.0:0.0	.	.	.	.	X	253;253;261;261	.	ENSP00000320092:R261X	R	+	1	2	SH3GL3	82048446	0.496000	0.26059	0.002000	0.10522	0.992000	0.81027	0.776000	0.26704	0.302000	0.22762	0.655000	0.94253	CGA	SH3GL3-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000304005.2		+	ENST00000324537.5	Nonsense_Mutation	SNP	15 : 84257442 - 84257442 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	219	34
RINT1	60561	broad.mit.edu	37	7	105204333	105204333	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:105204333C>T	ENST00000257700.2	+	12	2056	c.1825C>T	c.(1825-1827)Cgt>Tgt	p.R609C		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	609	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TATGTTGACCCGTCAAGTAGA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	92	96			NA	NA	7		NA											NA				105204333		2203	4300	6503	SO:0001583	missense			AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249	60561	60561			21876	protein-coding gene	gene with protein product		610089			NA	11096100, 15029241	Standard	NM_021930	NM_021930	NA	Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.1825C>T	7.37:g.105204333C>T	ENSP00000257700:p.Arg609Cys	NA	Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	37	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352824	0.82132	.	.	ENSG00000135249	ENST00000257700	T	0.31510	1.49	6.17	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.51907	0.1702	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.53486	-0.8432	10	0.56958	D	0.05	-16.4485	16.034	0.80608	0.0:0.9353:0.0:0.0647	.	609	Q6NUQ1	RINT1_HUMAN	C	609	ENSP00000257700:R609C	ENSP00000257700:R609C	R	+	1	0	RINT1	104991569	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	3.233000	0.51311	1.596000	0.50062	0.655000	0.94253	CGT	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348686.1		+	ENST00000257700.2	Missense_Mutation	SNP	7 : 105204333 - 105204333 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	44
KCNA10	3744	broad.mit.edu	37	1	111060769	111060769	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111060769G>A	ENST00000369771.2	-	1	1028	c.641C>T	c.(640-642)gCt>gTt	p.A214V		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	214						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		AGCACGGGCAGCGCTGGAACT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	104	104			NA	NA	1		NA											NA				111060769		2203	4300	6503	SO:0001583	missense			U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105	3744	3744		Potassium channels, Voltage-gated ion channels / Potassium channels	6219	protein-coding gene	gene with protein product		602420			NA	16382104	Standard	NM_005549	NM_005549	NA	Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.641C>T	1.37:g.111060769G>A	ENSP00000358786:p.Ala214Val	NA		37	CCDS826.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669436	0.29693	.	.	ENSG00000143105	ENST00000369771	T	0.63255	-0.03	5.93	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.75133	0.3808	M	0.83483	2.645	0.53005	D	0.999964	D	0.89917	1.0	D	0.83275	0.996	T	0.80039	-0.1549	10	0.62326	D	0.03	.	14.0696	0.64852	0.0728:0.0:0.9272:0.0	.	214	Q16322	KCA10_HUMAN	V	214	ENSP00000358786:A214V	ENSP00000358786:A214V	A	-	2	0	KCNA10	110862292	1.000000	0.71417	0.124000	0.21820	0.088000	0.18126	8.023000	0.88764	1.509000	0.48786	-0.137000	0.14449	GCT	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059081.1		-	ENST00000369771.2	Missense_Mutation	SNP	1 : 111060769 - 111060769 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	312	70
EPS8L2	64787	broad.mit.edu	37	11	721660	721660	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:721660G>A	ENST00000533256.1	+	11	1239	c.864G>A	c.(862-864)aaG>aaA	p.K288K	EPS8L2_ENST00000530636.1_Silent_p.K288K|EPS8L2_ENST00000526198.1_Silent_p.K304K|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000318562.8_Silent_p.K288K			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	288						cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCGGAAAAAGGGGAAGAAGA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	45	42			NA	NA	11		NA											NA				721660		2196	4289	6485	SO:0001819	synonymous_variant			AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106	64787	64787			21296	protein-coding gene	gene with protein product		614988			NA	12620401	Standard	NM_022772	NM_022772	NA	Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.864G>A	11.37:g.721660G>A		NA	B3KSX1|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	37	CCDS31328.1																																																																																			EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382344.1		+	ENST00000533256.1	Silent	SNP	11 : 721660 - 721660 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	297	44
ZNF620	253639	broad.mit.edu	37	3	40558249	40558249	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40558249C>T	ENST00000418905.1	+	3	1071	c.822C>T	c.(820-822)ggC>ggT	p.G274G	ZNF620_ENST00000314529.6_Silent_p.G388G	NM_001256167.1|NM_001256168.1	NP_001243096.1|NP_001243097.1	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TTCACACTGGCGAGAAACCTT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	86	92	90		1164	-5.6	0	3		90	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF620	NM_175888.2		0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077		388/423	40558249	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AK093599	CCDS33740.1, CCDS58825.1	3p21.33	2013-01-08			ENSG00000177842	ENSG00000177842	253639	253639		Zinc fingers, C2H2-type, -	28742	protein-coding gene	gene with protein product					NA	12477932	Standard	XM_171060	NM_175888	NA	Approved	MGC50836	uc003ckk.4	Q6ZNG0	OTTHUMG00000156044	ENST00000418905.1:c.822C>T	3.37:g.40558249C>T		NA	Q8N223	37	CCDS58825.1																																																																																			ZNF620-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342825.1		+	ENST00000418905.1	Silent	SNP	3 : 40558249 - 40558249 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	319	23
TBC1D9	23158	broad.mit.edu	37	4	141590134	141590134	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141590134G>A	ENST00000442267.2	-	9	1599	c.1525C>T	c.(1525-1527)Cgg>Tgg	p.R509W		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	509						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				ACCAGCTCCCGCGTTTTCTCT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	55	52			NA	NA	4		NA											NA				141590134		2164	4280	6444	SO:0001583	missense			AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436	23158	23158		EF-hand domain containing	21710	protein-coding gene	gene with protein product			TBC1 domain family, member 9		NA	12970790	Standard	NM_015130	NM_015130	NA	Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.1525C>T	4.37:g.141590134G>A	ENSP00000411197:p.Arg509Trp	NA	A6H8U8|D3DNZ1|O94958	37	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325543	0.81580	.	.	ENSG00000109436	ENST00000442267	T	0.05258	3.47	5.61	5.61	0.85477	Rab-GAP/TBC domain (1);	0.106323	0.64402	D	0.000006	T	0.23965	0.0580	M	0.79475	2.455	0.51767	D	0.999934	D	0.76494	0.999	D	0.63957	0.92	T	0.00073	-1.2127	10	0.72032	D	0.01	-8.8656	14.7148	0.69259	0.0:0.0:0.8214:0.1786	.	509	Q6ZT07	TBCD9_HUMAN	W	509	ENSP00000411197:R509W	ENSP00000411197:R509W	R	-	1	2	TBC1D9	141809584	1.000000	0.71417	0.963000	0.40424	0.994000	0.84299	3.861000	0.56002	2.793000	0.96121	0.655000	0.94253	CGG	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364806.1		-	ENST00000442267.2	Missense_Mutation	SNP	4 : 141590134 - 141590134 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	213	19
GPX5	2880	broad.mit.edu	37	6	28501868	28501868	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28501868G>A	ENST00000412168.2	+	5	679	c.590G>A	c.(589-591)cGc>cAc	p.R197H	GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	197					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	CCTGTCATGCGCTGGTCCCAC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	88	88			NA	NA	6		NA											NA				28501868		2203	4300	6503	SO:0001583	missense			AJ005277	CCDS4652.1, CCDS4653.1	6p22.1	2008-02-05			ENSG00000224586	ENSG00000224586	2880	2880	1.11.1.9		4557	protein-coding gene	gene with protein product		603435			NA	9639555	Standard		NM_001509	NA	Approved		uc003nll.2	O75715	OTTHUMG00000016307	ENST00000412168.2:c.590G>A	6.37:g.28501868G>A	ENSP00000392398:p.Arg197His	NA		37	CCDS4652.1	.	.	.	.	.	.	.	.	.	.	G	32	5.152846	0.94645	.	.	ENSG00000224586	ENST00000412168	T	0.04917	3.53	4.52	4.52	0.55395	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.18923	0.0454	M	0.91249	3.19	0.80722	D	1	D	0.69078	0.997	P	0.56127	0.792	T	0.02560	-1.1141	10	0.66056	D	0.02	-11.5047	15.5724	0.76349	0.0:0.0:1.0:0.0	.	197	O75715	GPX5_HUMAN	H	197	ENSP00000392398:R197H	ENSP00000392398:R197H	R	+	2	0	GPX5	28609847	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.365000	0.73090	2.793000	0.96121	0.655000	0.94253	CGC	GPX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043672.2		+	ENST00000412168.2	Missense_Mutation	SNP	6 : 28501868 - 28501868 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	537	87
DNAH11	8701	broad.mit.edu	37	7	21659634	21659634	+	Nonsense_Mutation	SNP	C	C	T	rs72657321		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21659634C>T	ENST00000409508.3	+	25	4469	c.4438C>T	c.(4438-4440)Cga>Tga	p.R1480*	DNAH11_ENST00000465593.1_3'UTR|DNAH11_ENST00000328843.6_Nonsense_Mutation_p.R1485*	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1485	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGTTCACTATCGAACAGGCAT	0.308		NA							Kartagener syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	79	80			NA	NA	7		NA											NA				21659634		1812	4073	5885	SO:0001587	stop_gained	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04				8701	8701		Axonemal dyneins	2942	protein-coding gene	gene with protein product	dynein, ciliary, heavy chain 11, dynein, heavy chain beta-like	603339	dynein, axonemal, heavy polypeptide 11		NA	9256245	Standard	NM_003777	NM_001277115	NA	Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.4438C>T	7.37:g.21659634C>T	ENSP00000475939:p.Arg1480*	NA	Q9UJ82	37		.	.	.	.	.	.	.	.	.	.	C	45	11.304859	0.99544	.	.	ENSG00000105877	ENST00000328843	.	.	.	5.47	3.49	0.39957	.	0.552784	0.17274	N	0.180253	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9568	0.41671	0.4061:0.4847:0.1092:0.0	.	.	.	.	X	1485	.	ENSP00000330671:R1485X	R	+	1	2	DNAH11	21626159	0.089000	0.21612	1.000000	0.80357	0.935000	0.57460	0.459000	0.21908	1.231000	0.43661	0.563000	0.77884	CGA	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000326582.6		+	ENST00000409508.3	Nonsense_Mutation	SNP	7 : 21659634 - 21659634 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	281	47
SLC38A8	146167	broad.mit.edu	37	16	84050168	84050168	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84050168C>T	ENST00000299709.3	-	8	1117	c.1118G>A	c.(1117-1119)aGc>aAc	p.S373N		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	373					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TCCGATGATGCTGACGATCTC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	76	81			NA	NA	16		NA											NA				84050168		2200	4300	6500	SO:0001583	missense				CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558	146167	146167		Solute carriers	32434	protein-coding gene	gene with protein product		615585			NA		Standard	NM_001080442	XM_006721135	NA	Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.1118G>A	16.37:g.84050168C>T	ENSP00000299709:p.Ser373Asn	NA		37	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	C	6.829	0.522115	0.13066	.	.	ENSG00000166558	ENST00000299709	T	0.02890	4.12	4.47	2.35	0.29111	.	0.922945	0.09335	N	0.816306	T	0.04092	0.0114	M	0.62723	1.935	0.09310	N	1	B	0.23990	0.095	B	0.22601	0.04	T	0.33137	-0.9880	10	0.48119	T	0.1	.	4.7346	0.12982	0.1527:0.6074:0.149:0.0909	.	373	A6NNN8	S38A8_HUMAN	N	373	ENSP00000299709:S373N	ENSP00000299709:S373N	S	-	2	0	SLC38A8	82607669	0.002000	0.14202	0.300000	0.25030	0.020000	0.10135	0.893000	0.28336	2.038000	0.60285	0.478000	0.44815	AGC	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432623.1		-	ENST00000299709.3	Missense_Mutation	SNP	16 : 84050168 - 84050168 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	53
SLC39A7	7922	broad.mit.edu	37	6	33169572	33169572	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33169572C>T	ENST00000374677.3	+	2	835	c.462C>T	c.(460-462)ttC>ttT	p.F154F	SLC39A7_ENST00000374675.3_Silent_p.F154F	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	154						endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TTGTCCTCTTCCTTATCCCCG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	89	85			NA	NA	6		NA											NA				33169572		1310	2554	3864	SO:0001819	synonymous_variant			AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473	7922	7922		Solute carriers	4927	protein-coding gene	gene with protein product		601416	HLA class II region expressed gene KE4	HKE4	NA	8812499, 1855816, 19246244, 15705588	Standard	NM_006979	NM_006979	NA	Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.462C>T	6.37:g.33169572C>T		NA	B0UXF6|Q5STP8|Q9UIQ0	37	CCDS43453.1	.	.	.	.	.	.	.	.	.	.	C	7.967	0.748232	0.15710	.	.	ENSG00000112473	ENST00000445037	.	.	.	4.84	0.998	0.19857	.	.	.	.	.	T	0.33323	0.0859	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.10154	-1.0642	5	0.21014	T	0.42	-17.2381	8.5856	0.33655	0.0:0.6571:0.0:0.3429	.	.	.	.	S	60	.	ENSP00000416844:P60S	P	+	1	0	SLC39A7	33277550	0.997000	0.39634	1.000000	0.80357	0.924000	0.55760	0.472000	0.22116	0.272000	0.22027	-0.284000	0.09977	CCT	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076499.2		+	ENST00000374677.3	Silent	SNP	6 : 33169572 - 33169572 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	423	73
MAPK8IP2	23542	broad.mit.edu	37	22	51043397	51043397	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51043397G>A	ENST00000399908.2	+	3	1588	c.872G>A	c.(871-873)gGt>gAt	p.G291D	MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.G291D|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.G556D|MAPK8IP2_ENST00000442429.2_Intron|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.G177D|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.G262D	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	557	Ser-rich.				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTAGGCGGCGGTCAGGTCTCG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	27	25			NA	NA	22		NA											NA				51043397		2096	4150	6246	SO:0001583	missense			AL021708	CCDS74886.1	22q13.33	2010-04-06			ENSG00000008735	ENSG00000008735	23542	23542			6883	protein-coding gene	gene with protein product	islet-brain 2, JNK-interacting protein 2	607755	PRKM8 interacting protein-like	PRKM8IPL	NA	10490659	Standard	NM_012324	NM_012324	NA	Approved	IB2, JIP2	uc003bmy.3	Q13387	OTTHUMG00000150181	ENST00000399908.2:c.872G>A	22.37:g.51043397G>A	ENSP00000382792:p.Gly291Asp	NA	Q96G62|Q99771|Q9NZ59|Q9UKQ4	37		.	.	.	.	.	.	.	.	.	.	G	0.018	-1.485847	0.01018	.	.	ENSG00000008735	ENST00000399912;ENST00000329492;ENST00000341339;ENST00000399908;ENST00000008876	T;T;T;T;T	0.41758	2.31;0.99;1.34;2.31;2.29	4.55	-2.65	0.06095	Src homology-3 domain (1);	1.288170	0.05115	N	0.489545	T	0.23289	0.0563	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15350	-1.0440	9	0.23891	T	0.37	-13.0965	5.0843	0.14673	0.5027:0.2628:0.2345:0.0	.	529;557	E7EQG6;Q13387	.;JIP2_HUMAN	D	291;556;177;291;262	ENSP00000382796:G291D;ENSP00000330572:G556D;ENSP00000340015:G177D;ENSP00000382792:G291D;ENSP00000008876:G262D	ENSP00000008876:G262D	G	+	2	0	MAPK8IP2	49390263	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.607000	0.05648	-0.375000	0.07955	0.462000	0.41574	GGT	MAPK8IP2-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000316731.2		+	ENST00000399908.2	Missense_Mutation	SNP	22 : 51043397 - 51043397 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	284	58
CPLX4	339302	broad.mit.edu	37	18	56964052	56964052	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56964052C>T	ENST00000299721.3	-	3	547	c.361G>A	c.(361-363)Gat>Aat	p.D121N	CPLX4_ENST00000587244.1_Intron	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	121					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding	p.D121Y(1)		autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				AGAATAGAATCTTTATCTTCT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											122	111	115			NA	NA	18		NA											NA				56964052		2203	4300	6503	SO:0001583	missense			AY286502	CCDS11973.1	18q21.32	2005-08-02			ENSG00000166569	ENSG00000166569	339302	339302			24330	protein-coding gene	gene with protein product		609586			NA	15911881	Standard	NM_181654	NM_181654	NA	Approved	CPX-IV	uc002lhy.3	Q7Z7G2	OTTHUMG00000132756	ENST00000299721.3:c.361G>A	18.37:g.56964052C>T	ENSP00000299721:p.Asp121Asn	NA		37	CCDS11973.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.897524	0.72639	.	.	ENSG00000166569	ENST00000299721	.	.	.	5.66	5.66	0.87406	.	0.087184	0.85682	D	0.000000	T	0.68659	0.3025	L	0.52759	1.655	0.80722	D	1	B	0.20887	0.049	B	0.35240	0.198	T	0.62950	-0.6745	9	0.34782	T	0.22	0.2791	19.3422	0.94347	0.0:1.0:0.0:0.0	.	121	Q7Z7G2	CPLX4_HUMAN	N	121	.	ENSP00000299721:D121N	D	-	1	0	CPLX4	55115032	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.723000	0.68492	2.653000	0.90120	0.561000	0.74099	GAT	CPLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256127.1		-	ENST00000299721.3	Missense_Mutation	SNP	18 : 56964052 - 56964052 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	239	42
DENND4B	9909	broad.mit.edu	37	1	153903514	153903514	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153903514A>G	ENST00000361217.4	-	25	4441	c.4023T>C	c.(4021-4023)gaT>gaC	p.D1341D	DENND4B_ENST00000474386.1_5'UTR	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1341										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGAGGCTGGATCAGGGGTTA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	31	30			NA	NA	1		NA											NA				153903514		1995	4165	6160	SO:0001819	synonymous_variant			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837	9909	9909		DENN/MADD domain containing	29044	protein-coding gene	gene with protein product			KIAA0476	KIAA0476	NA	9455484, 12906859	Standard	XM_375806	NM_014856	NA	Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.4023T>C	1.37:g.153903514A>G		NA	Q5T4K0	37	CCDS44228.1																																																																																			DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090278.2		-	ENST00000361217.4	Silent	SNP	1 : 153903514 - 153903514 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	108	11
SLC36A2	153201	broad.mit.edu	37	5	150726957	150726957	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150726957G>A	ENST00000335244.4	-	1	194	c.65C>T	c.(64-66)tCg>tTg	p.S22L	SLC36A2_ENST00000521967.1_Missense_Mutation_p.S22L	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	22					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCAGGAGGCGACATAAGGTC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													215	210	212			NA	NA	5		NA											NA				150726957		2203	4300	6503	SO:0001583	missense			AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335	153201	153201		Solute carriers	18762	protein-coding gene	gene with protein product		608331			NA	11959859	Standard		NM_181776	NA	Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.65C>T	5.37:g.150726957G>A	ENSP00000334223:p.Ser22Leu	NA	Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	37	CCDS4315.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.885151	0.33255	.	.	ENSG00000186335	ENST00000335244;ENST00000521967	T;T	0.10099	3.73;2.91	5.0	2.2	0.27929	.	0.695646	0.13942	N	0.352155	T	0.03959	0.0111	N	0.14661	0.345	0.09310	N	1	D;P;B	0.54772	0.968;0.553;0.211	B;B;B	0.33339	0.162;0.118;0.037	T	0.37663	-0.9696	10	0.34782	T	0.22	-0.4317	3.6879	0.08335	0.0901:0.1665:0.5709:0.1725	.	22;22;22	B4DMY0;E5RJJ5;Q495M3	.;.;S36A2_HUMAN	L	22	ENSP00000334223:S22L;ENSP00000430535:S22L	ENSP00000334223:S22L	S	-	2	0	SLC36A2	150707150	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	0.591000	0.23969	0.362000	0.24319	0.655000	0.94253	TCG	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252437.1		-	ENST00000335244.4	Missense_Mutation	SNP	5 : 150726957 - 150726957 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1104	122
GLT6D1	360203	broad.mit.edu	37	9	138516029	138516029	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138516029C>T	ENST00000371763.1	-	5	998	c.745G>A	c.(745-747)Gga>Aga	p.G249R		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	249					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		TGAATAACTCCGTTCAGATAT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	146	146			NA	NA	9		NA											NA				138516029		1843	4101	5944	SO:0001583	missense			AY336054	CCDS43900.1	9q34.3	2013-02-22	2004-09-16	2004-09-17	ENSG00000204007	ENSG00000204007	360203	360203		Glycosyltransferase family 6 domain containing	23671	protein-coding gene	gene with protein product		613699	galactosyltransferase family 6 domain containing 1	GLTDC1	NA		Standard	NM_182974	NM_182974	NA	Approved		uc010nbd.1	Q7Z4J2	OTTHUMG00000020911	ENST00000371763.1:c.745G>A	9.37:g.138516029C>T	ENSP00000360829:p.Gly249Arg	NA		37	CCDS43900.1	.	.	.	.	.	.	.	.	.	.	c	10.80	1.453806	0.26161	.	.	ENSG00000204007	ENST00000371763	T	0.01406	4.93	2.8	-1.55	0.08558	.	0.488677	0.19103	N	0.122652	T	0.02649	0.0080	M	0.74467	2.265	0.09310	N	1	D	0.67145	0.996	P	0.49012	0.598	T	0.35076	-0.9803	10	0.59425	D	0.04	-16.6457	4.0427	0.09758	0.1646:0.5121:0.0:0.3233	.	249	Q7Z4J2	GL6D1_HUMAN	R	249	ENSP00000360829:G249R	ENSP00000360829:G249R	G	-	1	0	GLT6D1	137655850	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.663000	0.25053	-0.360000	0.08138	-2.026000	0.00426	GGA	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055005.2		-	ENST00000371763.1	Missense_Mutation	SNP	9 : 138516029 - 138516029 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	602	105
FBXO44	93611	broad.mit.edu	37	1	11718605	11718605	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11718605C>A	ENST00000376768.1	+	4	481	c.379C>A	c.(379-381)Cca>Aca	p.P127T	FBXO44_ENST00000251547.5_Silent_p.S136S|FBXO44_ENST00000376770.1_Silent_p.S136S|FBXO44_ENST00000376760.1_Intron|FBXO44_ENST00000251546.4_Intron|FBXO44_ENST00000376762.4_Intron			Q9H4M3	FBX44_HUMAN	F-box protein 44	0	FBA.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTCAAGTCCCAGGTGGTGG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	32	32			NA	NA	1		NA											NA				11718605		2203	4300	6503	SO:0001583	missense			AY040878	CCDS131.1, CCDS132.1	1p36.21	2008-03-26			ENSG00000132879	ENSG00000132879	93611	93611		F-boxes /  other	24847	protein-coding gene	gene with protein product		609111			NA	12383498	Standard	NM_183412	XM_005263535	NA	Approved	FBX30, FBG3, MGC14140, Fbxo6a, Fbx44	uc001asm.3	Q9H4M3	OTTHUMG00000002071	ENST00000376768.1:c.379C>A	1.37:g.11718605C>A	ENSP00000365959:p.Pro127Thr	NA	B3KNZ2|B7Z743|Q5TGX2|Q5TGX4|Q5TGX5|Q68DJ9|Q8WWY2	37		.	.	.	.	.	.	.	.	.	.	C	16.83	3.231723	0.58777	.	.	ENSG00000132879	ENST00000376768	T	0.34072	1.38	5.37	4.35	0.52113	.	1.052530	0.07394	N	0.889643	T	0.28665	0.0710	.	.	.	0.80722	D	1	B	0.26363	0.147	B	0.21360	0.034	T	0.20706	-1.0267	9	0.49607	T	0.09	.	7.6947	0.28587	0.0:0.8095:0.0:0.1905	.	127	B7Z1P2	.	T	127	ENSP00000365959:P127T	ENSP00000365959:P127T	P	+	1	0	FBXO44	11641192	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.332000	0.19751	2.520000	0.84964	0.549000	0.68633	CCA	FBXO44-006	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000092163.1		+	ENST00000376768.1	Missense_Mutation	SNP	1 : 11718605 - 11718605 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	222	44
CNTNAP5	129684	broad.mit.edu	37	2	125521605	125521605	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:125521605T>G	ENST00000431078.1	+	16	2775	c.2411T>G	c.(2410-2412)tTt>tGt	p.F804C		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	804	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TACCTCCACTTTCCTACCTTC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	125	128			NA	NA	2		NA											NA				125521605		1843	4093	5936	SO:0001583	missense			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052	129684	129684			18748	protein-coding gene	gene with protein product		610519			NA		Standard		NM_130773	NA	Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2411T>G	2.37:g.125521605T>G	ENSP00000399013:p.Phe804Cys	NA	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.356243	0.82243	.	.	ENSG00000155052	ENST00000431078	T	0.45276	0.9	5.9	5.9	0.94986	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.52532	D	0.000074	T	0.69314	0.3097	M	0.93328	3.405	0.80722	D	1	D	0.69078	0.997	P	0.57371	0.819	T	0.78902	-0.2021	10	0.87932	D	0	.	15.5036	0.75719	0.0:0.0:0.0:1.0	.	804	Q8WYK1	CNTP5_HUMAN	C	804	ENSP00000399013:F804C	ENSP00000399013:F804C	F	+	2	0	CNTNAP5	125238075	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.927000	0.87577	2.263000	0.75096	0.533000	0.62120	TTT	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330864.3		+	ENST00000431078.1	Missense_Mutation	SNP	2 : 125521605 - 125521605 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	495	147
GCC1	79571	broad.mit.edu	37	7	127224482	127224482	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127224482T>G	ENST00000321407.2	-	1	1179	c.755A>C	c.(754-756)aAg>aCg	p.K252T	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	252						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CTGCAGCAGCTTCTGGAGCTC	0.567		NA									OREG0003809	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	73	74			NA	NA	7		NA											NA				127224482		2203	4300	6503	SO:0001583	missense			AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562	79571	79571			19095	protein-coding gene	gene with protein product		607418	golgi coiled-coil 1		NA	10209125	Standard	NM_024523	NM_024523	NA	Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.755A>C	7.37:g.127224482T>G	ENSP00000318821:p.Lys252Thr	1555	Q9H6N7	37	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.016296	0.75161	.	.	ENSG00000179562	ENST00000321407	T	0.46819	0.86	5.91	5.91	0.95273	.	0.099286	0.64402	D	0.000002	T	0.60183	0.2249	M	0.72894	2.215	0.58432	D	0.999997	D	0.69078	0.997	P	0.60789	0.879	T	0.60667	-0.7218	10	0.33141	T	0.24	-24.8249	8.765	0.34698	0.0:0.0829:0.0:0.9171	.	252	Q96CN9	GCC1_HUMAN	T	252	ENSP00000318821:K252T	ENSP00000318821:K252T	K	-	2	0	GCC1	127011718	0.992000	0.36948	0.994000	0.49952	0.988000	0.76386	2.219000	0.42899	2.254000	0.74563	0.533000	0.62120	AAG	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059911.3		-	ENST00000321407.2	Missense_Mutation	SNP	7 : 127224482 - 127224482 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	447	68
ANK1	286	broad.mit.edu	37	8	41561607	41561607	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41561607G>A	ENST00000289734.7	-	20	2330	c.2247C>T	c.(2245-2247)atC>atT	p.I749I	ANK1_ENST00000265709.8_Silent_p.I782I|ANK1_ENST00000396942.1_Silent_p.I749I|ANK1_ENST00000396945.1_Silent_p.I749I|ANK1_ENST00000347528.4_Silent_p.I749I|ANK1_ENST00000352337.4_Silent_p.I749I|ANK1_ENST00000379758.2_Silent_p.I749I	NM_000037.3	NP_000028.3	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	749	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCAGAGTCACGATGTCTGTGT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	122	127			NA	NA	8		NA											NA				41561607		2203	4300	6503	SO:0001819	synonymous_variant			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534	286	286		Ankyrin repeat domain containing	492	protein-coding gene	gene with protein product		612641		ANK	NA	1689849	Standard	NM_020475	NM_001142445	NA	Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000289734.7:c.2247C>T	8.37:g.41561607G>A		NA	A6NJ23|O43400|Q13768|Q59FP2|Q8N604|Q99407	37	CCDS6121.1	.	.	.	.	.	.	.	.	.	.	G	0.264	-0.997392	0.02145	.	.	ENSG00000029534	ENST00000520299	.	.	.	5.6	-11.2	0.00127	.	.	.	.	.	T	0.42426	0.1202	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52931	-0.8509	4	.	.	.	.	6.4693	0.21999	0.5719:0.0725:0.2188:0.1368	.	.	.	.	C	63	.	.	R	-	1	0	ANK1	41680764	0.000000	0.05858	0.062000	0.19696	0.002000	0.02628	-2.265000	0.01172	-2.763000	0.00369	-0.314000	0.08810	CGT	ANK1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317298.1		-	ENST00000289734.7	Silent	SNP	8 : 41561607 - 41561607 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	601	102
CDC6	990	broad.mit.edu	37	17	38445693	38445693	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38445693G>T	ENST00000209728.4	+	2	492	c.21G>T	c.(19-21)caG>caT	p.Q7H		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	7					cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						CCCGATCCCAGGCACAGGCTA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	77	77			NA	NA	17		NA											NA				38445693		2203	4300	6503	SO:0001583	missense			U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804	990	990			1744	protein-coding gene	gene with protein product		602627	CDC6 (cell division cycle 6, S. cerevisiae) homolog, CDC6 cell division cycle 6 homolog (S. cerevisiae), cell division cycle 6 homolog (S. cerevisiae)	CDC18L	NA	8990175, 9566895	Standard		NM_001254	NA	Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.21G>T	17.37:g.38445693G>T	ENSP00000209728:p.Gln7His	NA	Q8TB30	37	CCDS11365.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256689	0.80246	.	.	ENSG00000094804	ENST00000209728	T	0.59083	0.29	4.72	2.68	0.31781	.	0.129524	0.53938	D	0.000050	T	0.67933	0.2946	M	0.71581	2.175	0.39861	D	0.973386	D	0.67145	0.996	P	0.61328	0.887	T	0.69285	-0.5185	10	0.39692	T	0.17	-22.1046	10.5158	0.44889	0.1665:0.0:0.8335:0.0	.	7	Q99741	CDC6_HUMAN	H	7	ENSP00000209728:Q7H	ENSP00000209728:Q7H	Q	+	3	2	CDC6	35699219	0.999000	0.42202	1.000000	0.80357	0.959000	0.62525	3.099000	0.50267	1.212000	0.43366	0.557000	0.71058	CAG	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257129.1		+	ENST00000209728.4	Missense_Mutation	SNP	17 : 38445693 - 38445693 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	392	33
FILIP1	27145	broad.mit.edu	37	6	76023041	76023041	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76023041C>T	ENST00000393004.2	-	5	2728	c.2507G>A	c.(2506-2508)aGt>aAt	p.S836N	FILIP1_ENST00000370020.1_Missense_Mutation_p.S737N|FILIP1_ENST00000237172.7_Missense_Mutation_p.S836N|FILIP1_ENST00000498523.1_5'UTR			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	836										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CCGAAGATTACTCATAATATG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	153	148			NA	NA	6		NA											NA				76023041		2203	4300	6503	SO:0001583	missense			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407	27145	27145			21015	protein-coding gene	gene with protein product		607307			NA	10574462	Standard	XM_029179	XM_005248713	NA	Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000393004.2:c.2507G>A	6.37:g.76023041C>T	ENSP00000376728:p.Ser836Asn	NA	B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	37		.	.	.	.	.	.	.	.	.	.	C	11.20	1.569228	0.28003	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.19250	2.17;2.17;2.16	5.66	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.08891	0.0220	L	0.27053	0.805	0.52099	D	0.999946	B;B;B	0.27656	0.103;0.115;0.184	B;B;B	0.31101	0.031;0.058;0.124	T	0.06844	-1.0804	10	0.52906	T	0.07	-12.8369	14.5701	0.68205	0.0:0.9301:0.0:0.0699	.	836;836;836	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	N	836;836;737	ENSP00000376728:S836N;ENSP00000237172:S836N;ENSP00000359037:S737N	ENSP00000237172:S836N	S	-	2	0	FILIP1	76079761	1.000000	0.71417	0.992000	0.48379	0.960000	0.62799	3.921000	0.56454	1.410000	0.46936	-0.251000	0.11542	AGT	FILIP1-004	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000471226.1		-	ENST00000393004.2	Missense_Mutation	SNP	6 : 76023041 - 76023041 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1214	215
PNMAL2	57469	broad.mit.edu	37	19	46998367	46998367	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46998367G>A	ENST00000599531.1	-	1	1388	c.356C>T	c.(355-357)gCg>gTg	p.A119V	PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000377655.2_Missense_Mutation_p.A119V|AC011484.1_ENST00000377652.3_Missense_Mutation_p.A160T	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	119										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CCCAGCCTCCGCGGCCTGCGT	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	62	60			NA	NA	19		NA											NA				46998367		2203	4299	6502	SO:0001583	missense			AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851	57469	57469		Paraneoplastic Ma antigens	29206	protein-coding gene	gene with protein product			PNMA-like 2		NA	10574461	Standard	NM_020709	NM_020709	NA	Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000599531.1:c.356C>T	19.37:g.46998367G>A	ENSP00000473036:p.Ala119Val	NA	Q08E79|Q0D2F9|Q6ZVD1	37	CCDS59400.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.44|11.44	1.640729|1.640729	0.29157|0.29157	.|.	.|.	ENSG00000204850|ENSG00000204851	ENST00000377652|ENST00000377655	.|T	.|0.10005	.|2.92	1.55|1.55	0.391|0.391	0.16282|0.16282	.|.	.|.	.|.	.|.	.|.	T|T	0.03434|0.03434	0.0099|0.0099	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	D|P	0.54601|0.44478	0.967|0.836	B|B	0.31016|0.26310	0.123|0.068	T|T	0.38650|0.38650	-0.9651|-0.9651	8|9	0.87932|0.59425	D|D	0|0.04	-5.9318|-5.9318	4.7488|4.7488	0.13050|0.13050	0.0:0.0:0.5568:0.4432|0.0:0.0:0.5568:0.4432	.|.	160|119	Q6ZVU4|Q9ULN7	.|PNML2_HUMAN	T|V	160|119	.|ENSP00000366883:A119V	ENSP00000366880:A160T|ENSP00000366883:A119V	A|A	+|-	1|2	0|0	AC011484.1|PNMAL2	51690207|51690207	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.017000|0.017000	0.09413|0.09413	0.596000|0.596000	0.24044|0.24044	0.136000|0.136000	0.18733|0.18733	0.462000|0.462000	0.41574|0.41574	GCG|GCG	PNMAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466564.1		-	ENST00000599531.1	Missense_Mutation	SNP	19 : 46998367 - 46998367 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	802	166
CYP26A1	1592	broad.mit.edu	37	10	94836365	94836365	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:94836365A>G	ENST00000371531.1	+	6	1235	c.857A>G	c.(856-858)tAc>tGc	p.Y286C	CYP26A1_ENST00000224356.4_Missense_Mutation_p.Y355C|CYP26A1_ENST00000394139.1_Missense_Mutation_p.Y286C	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	355					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				CAACTTAAATACATCGGGTGT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	112	112			NA	NA	10		NA											NA				94836365		2203	4300	6503	SO:0001583	missense			AF005418	CCDS7426.1, CCDS7427.1	10q23-q24	2003-10-06	2003-01-14		ENSG00000095596	ENSG00000095596	NA	1592		Cytochrome P450s	2603	protein-coding gene	gene with protein product		602239	cytochrome P450, subfamily XXVIA, polypeptide 1		NA	9228017, 9521883	Standard		NM_000783	NA	Approved	P450RAI, CP26, CYP26, P450RAI1	uc001kil.2	O43174	OTTHUMG00000018765	ENST00000371531.1:c.857A>G	10.37:g.94836365A>G	ENSP00000360586:p.Tyr286Cys	NA	Q5VXI0	37	CCDS7427.1	.	.	.	.	.	.	.	.	.	.	A	18.04	3.535437	0.64972	.	.	ENSG00000095596	ENST00000371531;ENST00000224356;ENST00000394139	T;T;T	0.76186	-1.0;-1.0;-1.0	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.89487	0.6729	M	0.94101	3.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92221	0.5784	10	0.87932	D	0	-17.7244	15.3318	0.74219	1.0:0.0:0.0:0.0	.	286;355	B3KNI4;O43174	.;CP26A_HUMAN	C	286;355;286	ENSP00000360586:Y286C;ENSP00000224356:Y355C;ENSP00000377695:Y286C	ENSP00000224356:Y355C	Y	+	2	0	CYP26A1	94826355	1.000000	0.71417	0.997000	0.53966	0.923000	0.55619	8.578000	0.90777	2.214000	0.71695	0.528000	0.53228	TAC	CYP26A1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049407.1		+	ENST00000371531.1	Missense_Mutation	SNP	10 : 94836365 - 94836365 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	485	83
ASXL1	171023	broad.mit.edu	37	20	31021562	31021562	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31021562G>A	ENST00000375687.4	+	12	1985	c.1561G>A	c.(1561-1563)Gat>Aat	p.D521N	ASXL1_ENST00000306058.5_Missense_Mutation_p.D516N	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	521					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GGAACCCAAGGATCAGAAGAG	0.522		NA	F, N, Mis		MDS, CMML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0													131	142	139			NA	NA	20		NA											NA				31021562		2203	4300	6503	SO:0001583	missense			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456	171023	171023			18318	protein-coding gene	gene with protein product		612990	additional sex combs like 1 (Drosophila)		NA	12657473	Standard	NM_015338	NM_015338	NA	Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1561G>A	20.37:g.31021562G>A	ENSP00000364839:p.Asp521Asn	NA	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	37	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871943	0.91587	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.41065	1.01;1.01	4.91	4.91	0.64330	.	0.216198	0.47455	D	0.000236	T	0.62245	0.2412	M	0.65975	2.015	0.54753	D	0.999989	D;D	0.76494	0.999;0.988	D;P	0.66084	0.941;0.871	T	0.60840	-0.7183	10	0.42905	T	0.14	-6.3966	18.6696	0.91506	0.0:0.0:1.0:0.0	.	516;521	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	N	521;521;521;460;516	ENSP00000364839:D521N;ENSP00000305119:D516N	ENSP00000305119:D516N	D	+	1	0	ASXL1	30485223	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.113000	0.94321	2.723000	0.93209	0.655000	0.94253	GAT	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078624.2		+	ENST00000375687.4	Missense_Mutation	SNP	20 : 31021562 - 31021562 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1327	247
HHIP	64399	broad.mit.edu	37	4	145633201	145633201	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:145633201G>T	ENST00000296575.3	+	8	2056	c.1401G>T	c.(1399-1401)caG>caT	p.Q467H		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	467						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GAATTCTACAGATAATAAAGG	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	124	124			NA	NA	4		NA											NA				145633201		2203	4300	6503	SO:0001583	missense			AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161	64399	64399			14866	protein-coding gene	gene with protein product		606178	hedgehog-interacting protein		NA	11435703, 11731473	Standard		NM_022475	NA	Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.1401G>T	4.37:g.145633201G>T	ENSP00000296575:p.Gln467His	NA	Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	37	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460855	0.26248	.	.	ENSG00000164161	ENST00000296575	T	0.05786	3.39	5.74	3.08	0.35506	Six-bladed beta-propeller, TolB-like (1);	0.051730	0.85682	D	0.000000	T	0.05960	0.0155	L	0.51422	1.61	0.80722	D	1	P	0.38788	0.647	B	0.34452	0.183	T	0.41142	-0.9525	10	0.36615	T	0.2	-10.7005	7.1988	0.25868	0.1943:0.0:0.6819:0.1238	.	467	Q96QV1	HHIP_HUMAN	H	467	ENSP00000296575:Q467H	ENSP00000296575:Q467H	Q	+	3	2	HHIP	145852651	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.660000	0.46749	0.769000	0.33313	0.655000	0.94253	CAG	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364887.2		+	ENST00000296575.3	Missense_Mutation	SNP	4 : 145633201 - 145633201 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	655	120
CEACAM16	388551	broad.mit.edu	37	19	45209005	45209005	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45209005G>T	ENST00000405314.2	+	4	904	c.807G>T	c.(805-807)caG>caT	p.Q269H	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000587331.1_Missense_Mutation_p.Q269H			A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	269										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				TCAACGGGCAGGCCCTAAAGA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	106	102			NA	NA	19		NA											NA				45209005		2131	4240	6371	SO:0001583	missense				CCDS54278.1	19q13.31	2014-01-27			ENSG00000213892	ENSG00000213892	388551	388551		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	31948	protein-coding gene	gene with protein product		614591			NA	21368133	Standard	XM_371177	NM_001039213	NA	Approved	DFNA4B	uc010xxd.2	Q2WEN9	OTTHUMG00000151519	ENST00000405314.2:c.807G>T	19.37:g.45209005G>T	ENSP00000385576:p.Gln269His	NA		37	CCDS54278.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614232	0.46631	.	.	ENSG00000213892	ENST00000396750;ENST00000405314	T	0.12879	2.64	4.58	1.12	0.20585	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.783384	0.09963	U	0.733215	T	0.11024	0.0269	L	0.37697	1.125	0.22571	N	0.998973	P	0.46656	0.882	B	0.42282	0.382	T	0.22906	-1.0203	10	0.44086	T	0.13	-14.1742	5.1227	0.14869	0.0985:0.0:0.5353:0.3662	.	328	Q2WEN9	CEA16_HUMAN	H	334;269	ENSP00000385576:Q269H	ENSP00000379974:Q334H	Q	+	3	2	CEACAM16	49900845	1.000000	0.71417	0.945000	0.38365	0.864000	0.49448	1.107000	0.31110	0.153000	0.19213	0.555000	0.69702	CAG	CEACAM16-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding			+	ENST00000405314.2	Missense_Mutation	SNP	19 : 45209005 - 45209005 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	305	63
MAP7D3	79649	broad.mit.edu	37	X	135328253	135328253	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135328253C>T	ENST00000370661.1	-	3	236	c.224G>A	c.(223-225)cGc>cAc	p.R75H	MAP7D3_ENST00000316077.9_Missense_Mutation_p.R75H|MAP7D3_ENST00000370663.5_Missense_Mutation_p.R57H	NM_001173517.1	NP_001166988.1	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	75						cytoplasm|spindle		p.R372H(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CTCCTCTCTGCGCTCTCTTGC	0.274		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											168	141	150			NA	NA	X		NA											NA				135328253		1825	4082	5907	SO:0001583	missense			AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680	79649	79649			25742	protein-coding gene	gene with protein product		300930			NA	24927501	Standard		NM_001173516	NA	Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000370661.1:c.224G>A	X.37:g.135328253C>T	ENSP00000359695:p.Arg75His	NA	A2A2J0|A6NCZ7|A6NHR4|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	37	CCDS55508.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.986959	0.53934	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.09163	3.01;3.01;3.01;3.01	5.57	5.57	0.84162	.	0.000000	0.32802	N	0.005639	T	0.34978	0.0916	M	0.70275	2.135	0.42323	D	0.992268	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	T	0.05566	-1.0877	10	0.72032	D	0.01	-17.3619	18.3794	0.90445	0.0:1.0:0.0:0.0	.	57;75;75;75	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	H	75;75;57;75	ENSP00000359695:R75H;ENSP00000318086:R75H;ENSP00000359697:R57H;ENSP00000359694:R75H	ENSP00000318086:R75H	R	-	2	0	MAP7D3	135155919	0.997000	0.39634	0.031000	0.17742	0.002000	0.02628	4.724000	0.61972	2.466000	0.83321	0.594000	0.82650	CGC	MAP7D3-002	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058488.2		-	ENST00000370661.1	Missense_Mutation	SNP	X : 135328253 - 135328253 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	433	94
SHROOM1	134549	broad.mit.edu	37	5	132160909	132160909	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:132160909T>C	ENST00000378679.3	-	4	1728	c.924A>G	c.(922-924)tcA>tcG	p.S308S	SHROOM1_ENST00000378676.1_Silent_p.S308S|SHROOM1_ENST00000319854.3_Silent_p.S308S	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	308					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGACTTCGCCTGAAGCGCTCC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	44	42			NA	NA	5		NA											NA				132160909		2203	4300	6503	SO:0001819	synonymous_variant			AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403	134549	134549			24084	protein-coding gene	gene with protein product		611179			NA	11853319, 16615870	Standard	NM_133456	NM_133456	NA	Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.924A>G	5.37:g.132160909T>C		NA	B7WP40|B7ZL01|Q8TDP0|Q8TF41	37	CCDS54902.1																																																																																			SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000133033.1		-	ENST00000378679.3	Silent	SNP	5 : 132160909 - 132160909 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	217	46
BEST3	144453	broad.mit.edu	37	12	70049400	70049400	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70049400C>A	ENST00000330891.5	-	10	1520	c.1294G>T	c.(1294-1296)Gcc>Tcc	p.A432S	BEST3_ENST00000553096.1_Missense_Mutation_p.A326S|BEST3_ENST00000488961.1_Missense_Mutation_p.A219S|BEST3_ENST00000331471.4_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	432						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AGGTCCCTGGCTGGGCTGAGG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	99	98			NA	NA	12		NA											NA				70049400		2014	4188	6202	SO:0001583	missense			AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325	144453	144453		Ion channels / Chloride channels : Calcium activated : Bestrophins	17105	protein-coding gene	gene with protein product		607337	vitelliform macular dystrophy 2-like 3	VMD2L3	NA	12032738	Standard	NM_152439	NM_032735	NA	Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1294G>T	12.37:g.70049400C>A	ENSP00000332413:p.Ala432Ser	NA	Q53YQ7|Q8N356|Q8NFT9|Q9BR80	37	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	C	2.396	-0.338624	0.05243	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	D;D;D	0.97811	-4.19;-4.55;-4.51	5.63	-4.84	0.03151	.	0.900902	0.09621	N	0.777552	D	0.93996	0.8077	L	0.41236	1.265	0.18873	N	0.999989	B;B	0.12013	0.001;0.005	B;B	0.10450	0.002;0.005	T	0.82104	-0.0622	10	0.10902	T	0.67	-4.3232	14.9908	0.71387	0.0:0.22:0.0:0.78	.	432;219	Q8N1M1;B5MDI8	BEST3_HUMAN;.	S	219;432;326	ENSP00000433213:A219S;ENSP00000332413:A432S;ENSP00000449548:A326S	ENSP00000332413:A432S	A	-	1	0	BEST3	68335667	0.001000	0.12720	0.004000	0.12327	0.021000	0.10359	-1.100000	0.03339	-0.816000	0.04340	-0.140000	0.14226	GCC	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313908.2		-	ENST00000330891.5	Missense_Mutation	SNP	12 : 70049400 - 70049400 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	506	44
BPTF	2186	broad.mit.edu	37	17	65862593	65862593	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65862593G>A	ENST00000306378.6	+	3	1510	c.1450G>A	c.(1450-1452)Gaa>Aaa	p.E484K	BPTF_ENST00000335221.5_Missense_Mutation_p.E484K|BPTF_ENST00000321892.4_Missense_Mutation_p.E484K|BPTF_ENST00000424123.3_Missense_Mutation_p.E345K	NM_182641.3	NP_872579.2	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	484					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGAAGATACAGAAAATGAAAA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	80	76			NA	NA	17		NA											NA				65862593		2198	4297	6495	SO:0001583	missense			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634	2186	2186		Zinc fingers, PHD-type	3581	protein-coding gene	gene with protein product		601819	fetal Alzheimer antigen	FALZ	NA	8975731, 10662542, 16728976	Standard	NM_182641, NM_004459	NM_182641	NA	Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000306378.6:c.1450G>A	17.37:g.65862593G>A	ENSP00000307208:p.Glu484Lys	NA	Q6NX67|Q7Z7D6|Q9UIG2	37	CCDS11673.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.372993	0.61624	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.65178	-0.1;-0.14;-0.13	5.84	5.84	0.93424	.	.	.	.	.	T	0.74741	0.3756	M	0.65975	2.015	0.58432	D	0.999999	P;D;D	0.56968	0.457;0.972;0.978	B;P;P	0.56343	0.081;0.737;0.796	T	0.76454	-0.2953	9	0.72032	D	0.01	.	18.3357	0.90287	0.0:0.0:1.0:0.0	.	484;484;484	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	K	389;484;484;484;345	ENSP00000307208:E484K;ENSP00000334351:E484K;ENSP00000315454:E484K	ENSP00000307208:E484K	E	+	1	0	BPTF	63293055	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.177000	0.89688	2.760000	0.94817	0.655000	0.94253	GAA	BPTF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255334.2		+	ENST00000306378.6	Missense_Mutation	SNP	17 : 65862593 - 65862593 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	707	114
FOXC2	2303	broad.mit.edu	37	16	86601231	86601231	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:86601231G>A	ENST00000320354.4	+	1	375	c.290G>A	c.(289-291)gGc>gAc	p.G97D	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	97					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|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 factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						ACCTTGAACGGCATCTACCAG	0.597		NA							Late-onset Hereditary Lymphedema					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CD012256	FOXC2	D							118	122	120			NA	NA	16		NA											NA				86601231		2198	4300	6498	SO:0001583	missense	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692	2303	2303		Forkhead boxes	3801	protein-coding gene	gene with protein product		602402		FKHL14	NA	9169153, 8674414	Standard	NM_005251	NM_005251	NA	Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.290G>A	16.37:g.86601231G>A	ENSP00000326371:p.Gly97Asp	NA	C6KMR9|Q14DA6	37	CCDS10958.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024882	0.75390	.	.	ENSG00000176692	ENST00000320354	D	0.95103	-3.61	4.67	4.67	0.58626	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.56097	U	0.000029	D	0.94673	0.8282	L	0.37697	1.125	0.80722	D	1	P	0.41978	0.767	P	0.56648	0.803	D	0.94092	0.7354	10	0.37606	T	0.19	.	16.2107	0.82151	0.0:0.0:1.0:0.0	.	97	Q99958	FOXC2_HUMAN	D	97	ENSP00000326371:G97D	ENSP00000326371:G97D	G	+	2	0	FOXC2	85158732	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.576000	0.82467	2.145000	0.66743	0.650000	0.86243	GGC	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269104.2		+	ENST00000320354.4	Missense_Mutation	SNP	16 : 86601231 - 86601231 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	957	53
ADCY5	111	broad.mit.edu	37	3	123044174	123044174	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123044174G>A	ENST00000491190.1	-	9	1519	c.982C>T	c.(982-984)Cgg>Tgg	p.R328W	ADCY5_ENST00000309879.5_Missense_Mutation_p.R345W|ADCY5_ENST00000462833.1_Missense_Mutation_p.R695W			O95622	ADCY5_HUMAN	adenylate cyclase 5	695					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CTCACCATCCGCTTCATCTCC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	75	76			NA	NA	3		NA											NA				123044174		2203	4300	6503	SO:0001583	missense			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	111	111	4.6.1.1	Adenylate cyclases	236	protein-coding gene	gene with protein product		600293			NA	10481931	Standard	XM_171048	NM_183357	NA	Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000491190.1:c.982C>T	3.37:g.123044174G>A	ENSP00000418537:p.Arg328Trp	NA	Q7RTV7|Q8NFM3	37		.	.	.	.	.	.	.	.	.	.	G	20.0	3.930897	0.73327	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	5.23	3.23	0.37069	.	0.000000	0.64402	D	0.000001	D	0.82449	0.5039	L	0.55481	1.735	0.54753	D	0.999987	P;D	0.76494	0.797;0.999	B;P	0.61658	0.102;0.892	D	0.84288	0.0498	10	0.72032	D	0.01	.	12.8138	0.57654	0.0:0.0:0.6016:0.3984	.	695;328	O95622;B3KWA8	ADCY5_HUMAN;.	W	695;328;345;254	ENSP00000419361:R695W;ENSP00000418537:R328W;ENSP00000308685:R345W;ENSP00000420082:R254W	ENSP00000308685:R345W	R	-	1	2	ADCY5	124526864	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.795000	0.47861	1.377000	0.46286	0.655000	0.94253	CGG	ADCY5-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000355890.1		-	ENST00000491190.1	Missense_Mutation	SNP	3 : 123044174 - 123044174 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	501	102
PIK3R4	30849	broad.mit.edu	37	3	130435274	130435274	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130435274G>A	ENST00000356763.3	-	9	2854	c.2297C>T	c.(2296-2298)gCc>gTc	p.A766V		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	766					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CTGTGCTATGGCAGGATCCTC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	97	95			NA	NA	3		NA											NA				130435274		2203	4300	6503	SO:0001583	missense			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455	30849	30849		WD repeat domain containing	8982	protein-coding gene	gene with protein product		602610			NA	8999962	Standard	NM_014602	NM_014602	NA	Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.2297C>T	3.37:g.130435274G>A	ENSP00000349205:p.Ala766Val	NA	Q2TBF4	37	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276871	0.59758	.	.	ENSG00000196455	ENST00000356763;ENST00000508273;ENST00000507330;ENST00000512430	T;T;T;T	0.50548	0.94;0.91;0.78;0.74	5.21	5.21	0.72293	.	0.101966	0.64402	D	0.000002	T	0.45736	0.1357	L	0.54323	1.7	0.58432	D	0.999997	B	0.33883	0.43	B	0.30943	0.122	T	0.42327	-0.9458	10	0.37606	T	0.19	-7.1737	18.7681	0.91881	0.0:0.0:1.0:0.0	.	766	Q99570	PI3R4_HUMAN	V	766;125;125;125	ENSP00000349205:A766V;ENSP00000427302:A125V;ENSP00000424274:A125V;ENSP00000422767:A125V	ENSP00000349205:A766V	A	-	2	0	PIK3R4	131917964	1.000000	0.71417	1.000000	0.80357	0.294000	0.27393	7.659000	0.83766	2.439000	0.82584	0.655000	0.94253	GCC	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356668.1		-	ENST00000356763.3	Missense_Mutation	SNP	3 : 130435274 - 130435274 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	546	86
ZNF300	91975	broad.mit.edu	37	5	150276091	150276091	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150276091C>A	ENST00000394226.2	-	6	1125	c.710G>T	c.(709-711)gGa>gTa	p.G237V	ZNF300_ENST00000418587.2_Missense_Mutation_p.G201V|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000274599.5_Missense_Mutation_p.G237V|ZNF300_ENST00000446148.2_Missense_Mutation_p.G253V			Q96RE9	ZN300_HUMAN	zinc finger protein 300	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGTATTACTCCATTGTGAAT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	92	90			NA	NA	5		NA											NA				150276091		2203	4299	6502	SO:0001583	missense			AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908	91975	91975		Zinc fingers, C2H2-type, -	13091	protein-coding gene	gene with protein product		612429			NA	14746915	Standard	NM_052860	NM_052860	NA	Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000394226.2:c.710G>T	5.37:g.150276091C>A	ENSP00000377773:p.Gly237Val	NA	A8MY91|B3KU35|B4DU78|Q06DQ3|Q17RP3|Q5H9N5	37		.	.	.	.	.	.	.	.	.	.	C	12.18	1.861304	0.32884	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.08458	3.17;3.17;3.09;3.17	3.04	2.16	0.27623	.	.	.	.	.	T	0.16041	0.0386	L	0.46157	1.445	0.33494	D	0.589114	D	0.60575	0.988	P	0.59825	0.864	T	0.18840	-1.0324	9	0.87932	D	0	.	8.4296	0.32750	0.0:0.8766:0.0:0.1234	.	237	Q96RE9	ZN300_HUMAN	V	253;237;201;237	ENSP00000397178:G253V;ENSP00000274599:G237V;ENSP00000392593:G201V;ENSP00000377773:G237V	ENSP00000274599:G237V	G	-	2	0	ZNF300	150256284	0.000000	0.05858	0.344000	0.25628	0.607000	0.37147	0.109000	0.15417	0.849000	0.35215	0.557000	0.71058	GGA	ZNF300-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000252368.1		-	ENST00000394226.2	Missense_Mutation	SNP	5 : 150276091 - 150276091 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	633	120
GAS2L1	10634	broad.mit.edu	37	22	29707995	29707995	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29707995C>T	ENST00000406549.3	+	6	1160				GAS2L1_ENST00000407647.2_Silent_p.S518S|GAS2L1_ENST00000471961.1_Silent_p.S518S|GAS2L1_ENST00000403764.1_Silent_p.S518S|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000341313.6_3'UTR|GAS2L1_ENST00000407854.1_Silent_p.S518S	NM_001278730.1	NP_001265659.1	Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	NA					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						GCAGCTGTTCCGGCGCCTGGA	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	48	44			NA	NA	22		NA											NA				29707995		2041	4200	6241	SO:0001627	intron_variant			BC001782	CCDS63438.1, CCDS74840.1	22q12.2	2008-06-11			ENSG00000185340	ENSG00000185340	10634	10634			16955	protein-coding gene	gene with protein product		602128			NA	8975699, 12584248, 1607387	Standard	NM_006478	NM_001278730	NA	Approved	GAR22	uc003afc.1	Q99501	OTTHUMG00000151108	ENST00000406549.3:c.1011-137C>T	22.37:g.29707995C>T		NA	Q53EN7|Q92640|Q9BUY9	37		.	.	.	.	.	.	.	.	.	.	C	1.243	-0.620883	0.03636	.	.	ENSG00000185340	ENST00000333679	.	.	.	3.68	-1.41	0.08941	.	0.210963	0.28354	N	0.015652	T	0.33818	0.0876	.	.	.	0.35131	D	0.767955	B;B	0.16396	0.017;0.017	B;B	0.10450	0.005;0.005	T	0.05289	-1.0894	8	0.45353	T	0.12	-1.7584	4.3281	0.11050	0.3098:0.501:0.0:0.1891	.	519;519	A0A5E8;Q99501	.;GA2L1_HUMAN	W	518	.	ENSP00000332834:R518W	R	+	1	2	GAS2L1	28037995	0.094000	0.21725	0.000000	0.03702	0.236000	0.25371	1.479000	0.35453	-0.419000	0.07439	0.491000	0.48974	CGG	GAS2L1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000321365.1		+	ENST00000406549.3	Intron	SNP	22 : 29707995 - 29707995 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	549	146
FAT4	79633	broad.mit.edu	37	4	126241875	126241875	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126241875A>G	ENST00000394329.3	+	1	4322	c.4309A>G	c.(4309-4311)Aca>Gca	p.T1437A		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1437	Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCCCATCGGTACATCTGTCAT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	140	144			NA	NA	4		NA											NA				126241875		1904	4126	6030	SO:0001583	missense			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159	79633	79633		Cadherins / Cadherin-related	23109	protein-coding gene	gene with protein product	cadherin-related family member 11	612411	FAT tumor suppressor homolog 4 (Drosophila)		NA	15003449	Standard	NM_024582	NM_024582	NA	Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4309A>G	4.37:g.126241875A>G	ENSP00000377862:p.Thr1437Ala	NA	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	10.98	1.504709	0.26949	.	.	ENSG00000196159	ENST00000394329	T	0.57107	0.42	4.87	3.65	0.41850	Cadherin (3);Cadherin-like (1);	0.297436	0.18242	U	0.147212	T	0.45955	0.1368	M	0.63428	1.95	0.58432	D	0.999995	B	0.06786	0.001	B	0.12156	0.007	T	0.28235	-1.0050	10	0.10902	T	0.67	.	10.863	0.46837	0.8588:0.0:0.0:0.1412	.	1437	Q6V0I7	FAT4_HUMAN	A	1437	ENSP00000377862:T1437A	ENSP00000377862:T1437A	T	+	1	0	FAT4	126461325	0.998000	0.40836	0.034000	0.17996	0.930000	0.56654	5.721000	0.68477	0.850000	0.35239	0.533000	0.62120	ACA	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256765.2		+	ENST00000394329.3	Missense_Mutation	SNP	4 : 126241875 - 126241875 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	843	71
CEACAM3	1084	broad.mit.edu	37	19	42301744	42301744	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42301744C>T	ENST00000357396.3	+	2	529	c.288C>T	c.(286-288)agC>agT	p.S96S	CEACAM3_ENST00000344550.4_Silent_p.S96S|CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000221999.4_Silent_p.S96S	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	96	Ig-like V-type.					integral to membrane				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						CCGCATACAGCGGTCGAGAGA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													200	223	215			NA	NA	19		NA											NA				42301744		2198	4300	6498	SO:0001819	synonymous_variant			E03349	CCDS12586.2, CCDS62685.1	19q13.2	2013-01-11			ENSG00000170956	ENSG00000170956	1084	1084		CD molecules, Immunoglobulin superfamily / V-set domain containing	1815	protein-coding gene	gene with protein product		609142		CGM1	NA		Standard	NM_001815	NM_001815	NA	Approved	CD66d	uc002orn.2	P40198	OTTHUMG00000150142	ENST00000357396.3:c.288C>T	19.37:g.42301744C>T		NA	Q3KPH9	37	CCDS12586.2																																																																																			CEACAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316509.2		+	ENST00000357396.3	Silent	SNP	19 : 42301744 - 42301744 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1323	155
CHD5	26038	broad.mit.edu	37	1	6202222	6202222	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6202222G>A	ENST00000262450.3	-	15	2501	c.2402C>T	c.(2401-2403)gCc>gTc	p.A801V	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	801	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ACTCCGAATGGCGTTGTCCTC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	158	162			NA	NA	1		NA											NA				6202222		2203	4300	6503	SO:0001583	missense			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254	26038	26038		Zinc fingers, PHD-type	16816	protein-coding gene	gene with protein product		610771			NA	11889561, 12592387	Standard	NM_015557	NM_015557	NA	Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2402C>T	1.37:g.6202222G>A	ENSP00000262450:p.Ala801Val	NA	O75032|Q5TG89|Q7LGH2|Q9UFR9	37	CCDS57.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955651	0.92726	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	D	0.90900	-2.75	4.07	4.07	0.47477	DEAD-like helicase (2);SNF2-related (1);	0.073472	0.53938	D	0.000051	D	0.92770	0.7701	L	0.41710	1.295	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.93421	0.6777	10	0.54805	T	0.06	-22.6321	16.6218	0.84932	0.0:0.0:1.0:0.0	.	801	Q8TDI0	CHD5_HUMAN	V	801;317;209;209	ENSP00000262450:A801V	ENSP00000262450:A801V	A	-	2	0	CHD5	6124809	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.843000	0.86859	1.977000	0.57605	0.561000	0.74099	GCC	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000002823.2		-	ENST00000262450.3	Missense_Mutation	SNP	1 : 6202222 - 6202222 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1102	110
SCN10A	6336	broad.mit.edu	37	3	38739966	38739966	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38739966C>T	ENST00000449082.2	-	27	4744	c.4745G>A	c.(4744-4746)cGc>cAc	p.R1582H		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1582					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCTGAGGATGCGGCCAATTCG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	90	91			NA	NA	3		NA											NA				38739966		2203	4300	6503	SO:0001583	missense			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313	6336	6336		Sodium channels, Voltage-gated ion channels / Sodium channels	10582	protein-coding gene	gene with protein product		604427	sodium channel, voltage-gated, type X, alpha polypeptide		NA	9839820, 10198179, 16382098	Standard	NM_006514	NM_006514	NA	Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4745G>A	3.37:g.38739966C>T	ENSP00000390600:p.Arg1582His	NA	A6NDQ1	37	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806931	0.90623	.	.	ENSG00000185313	ENST00000449082	D	0.99591	-6.24	5.42	5.42	0.78866	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	H	0.97103	3.94	0.58432	D	0.999999	D	0.89917	1.0	D	0.70227	0.968	D	0.97217	0.9875	10	0.87932	D	0	.	19.406	0.94647	0.0:1.0:0.0:0.0	.	1582	Q9Y5Y9	SCNAA_HUMAN	H	1582	ENSP00000390600:R1582H	ENSP00000390600:R1582H	R	-	2	0	SCN10A	38714970	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.641000	0.83368	2.822000	0.97130	0.655000	0.94253	CGC	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109745.3		-	ENST00000449082.2	Missense_Mutation	SNP	3 : 38739966 - 38739966 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	611	23
UBQLN3	50613	broad.mit.edu	37	11	5530082	5530082	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5530082C>T	ENST00000311659.4	-	2	854	c.707G>A	c.(706-708)aGc>aAc	p.S236N	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	236										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCGGTCCTGGCTACGTATCAT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(72;684 1260 12332 41642 52180)							NA				0													91	86	88			NA	NA	11		NA											NA				5530082		2201	4297	6498	SO:0001583	missense			AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520	50613	50613		Ubiquilin family	12510	protein-coding gene	gene with protein product		605473			NA	10831842	Standard	NM_017481	NM_017481	NA	Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.707G>A	11.37:g.5530082C>T	ENSP00000347997:p.Ser236Asn	NA	Q9NRE0	37	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	C	8.846	0.943531	0.18281	.	.	ENSG00000175520	ENST00000311659	T	0.30714	1.52	5.53	5.53	0.82687	.	0.000000	0.53938	D	0.000042	T	0.19248	0.0462	L	0.31526	0.94	0.38581	D	0.950182	B	0.24721	0.11	B	0.24848	0.056	T	0.05886	-1.0858	10	0.05833	T	0.94	-16.6012	10.726	0.46068	0.0:0.913:0.0:0.087	.	236	Q9H347	UBQL3_HUMAN	N	236	ENSP00000347997:S236N	ENSP00000347997:S236N	S	-	2	0	UBQLN3	5486658	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.282000	0.51693	2.750000	0.94351	0.591000	0.81541	AGC	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000143348.1		-	ENST00000311659.4	Missense_Mutation	SNP	11 : 5530082 - 5530082 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	522	101
MLK4	0	broad.mit.edu	37	1	233482285	233482285	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233482285A>C	ENST00000366624.3	+	2	1164	c.903A>C	c.(901-903)aaA>aaC	p.K301N	MLK4_ENST00000366623.3_Missense_Mutation_p.K301N	NM_032435.2	NP_115811.2				NA											NA						GGACCACCAAAATGAGCACAG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	96	98			NA	NA	1		NA											NA				233482285		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000366624.3:c.903A>C	1.37:g.233482285A>C	ENSP00000355583:p.Lys301Asn	NA		37	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	A	17.95	3.512839	0.64522	.	.	ENSG00000143674	ENST00000366623;ENST00000366624	D;D	0.83673	-1.75;-1.75	4.49	2.13	0.27403	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.125359	0.52532	D	0.000067	T	0.76637	0.4015	N	0.11427	0.14	0.80722	D	1	P;P	0.45212	0.853;0.57	P;P	0.57720	0.826;0.521	T	0.73300	-0.4026	10	0.52906	T	0.07	.	6.5382	0.22365	0.5676:0.0:0.4324:0.0	.	301;301	Q5TCX8;Q5TCX8-2	M3KL4_HUMAN;.	N	301	ENSP00000355582:K301N;ENSP00000355583:K301N	ENSP00000355582:K301N	K	+	3	2	RP5-862P8.2	231548908	0.941000	0.31946	0.993000	0.49108	0.985000	0.73830	0.232000	0.17891	0.238000	0.21222	0.460000	0.39030	AAA	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092495.1		+	ENST00000366624.3	Missense_Mutation	SNP	1 : 233482285 - 233482285 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	334	52
TMEM97	27346	broad.mit.edu	37	17	26653722	26653722	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26653722C>T	ENST00000226230.6	+	3	579	c.434C>T	c.(433-435)tCt>tTt	p.S145F	TMEM97_ENST00000336687.6_Missense_Mutation_p.S38F|TMEM97_ENST00000583381.1_Missense_Mutation_p.S38F	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	145					cholesterol homeostasis|regulation of cell growth	integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum	protein binding			endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		ACCCTTGTGTCTGTCTATGCC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	92	103			NA	NA	17		NA											NA				26653722		2203	4300	6503	SO:0001583	missense			BC091504	CCDS11226.2	17q11.2	2014-01-28			ENSG00000109084	ENSG00000109084	27346	27346			28106	protein-coding gene	gene with protein product		612912			NA	7694637, 15375745	Standard	NM_014573	NM_014573	NA	Approved	MAC30	uc002hat.3	Q5BJF2	OTTHUMG00000132497	ENST00000226230.6:c.434C>T	17.37:g.26653722C>T	ENSP00000226230:p.Ser145Phe	NA	B4DS02|Q07823	37	CCDS11226.2	.	.	.	.	.	.	.	.	.	.	C	5.448	0.267767	0.10294	.	.	ENSG00000109084	ENST00000226230;ENST00000336687	.	.	.	5.93	2.77	0.32553	.	0.293339	0.44483	N	0.000449	T	0.59797	0.2220	M	0.74647	2.275	0.26200	N	0.979468	D	0.61080	0.989	P	0.58077	0.832	T	0.54036	-0.8353	9	0.46703	T	0.11	-1.5154	10.3922	0.44179	0.0:0.6064:0.3204:0.0732	.	145	Q5BJF2	TMM97_HUMAN	F	145;38	.	ENSP00000226230:S145F	S	+	2	0	TMEM97	23677849	0.121000	0.22262	0.000000	0.03702	0.021000	0.10359	2.413000	0.44618	0.359000	0.24239	-0.175000	0.13238	TCT	TMEM97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255675.2		+	ENST00000226230.6	Missense_Mutation	SNP	17 : 26653722 - 26653722 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	255	54
ITGAV	3685	broad.mit.edu	37	2	187455135	187455135	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:187455135C>A	ENST00000261023.3	+	1	344	c.70C>A	c.(70-72)Ctg>Atg	p.L24M	ITGAV_ENST00000374907.3_Missense_Mutation_p.L24M	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	24					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		CTCGGGACTCCTGCTACCTCT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(58;108 1995 6081)							NA				0													32	36	35			NA	NA	2		NA											NA				187455135		2203	4300	6503	SO:0001583	missense				CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448	3685	3685		CD molecules, Integrins	6150	protein-coding gene	gene with protein product		193210	antigen identified by monoclonal antibody L230, vitronectin receptor, integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)	VNRA, MSK8, VTNR	NA	2454952	Standard	NM_002210	NM_001144999	NA	Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.70C>A	2.37:g.187455135C>A	ENSP00000261023:p.Leu24Met	NA	A0AV67|B0LPF4|D3DPG8|Q53SK4|Q59EB7|Q6LD15	37	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515380	0.44763	.	.	ENSG00000138448	ENST00000544640;ENST00000261023;ENST00000374907	D;D	0.85411	-1.98;-1.98	4.18	3.25	0.37280	.	0.974764	0.08378	N	0.954986	D	0.85204	0.5643	M	0.71036	2.16	0.80722	D	1	D;P	0.54207	0.965;0.94	P;B	0.47981	0.563;0.36	T	0.78478	-0.2188	10	0.36615	T	0.2	.	4.9857	0.14189	0.0:0.5721:0.2921:0.1358	.	24;24	P06756-2;P06756	.;ITAV_HUMAN	M	24	ENSP00000261023:L24M;ENSP00000364042:L24M	ENSP00000261023:L24M	L	+	1	2	ITGAV	187163380	0.050000	0.20438	0.997000	0.53966	0.938000	0.57974	0.460000	0.21924	0.853000	0.35312	0.462000	0.41574	CTG	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255882.2		+	ENST00000261023.3	Missense_Mutation	SNP	2 : 187455135 - 187455135 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	376	84
ZNF490	57474	broad.mit.edu	37	19	12692016	12692016	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12692016C>A	ENST00000311437.6	-	5	995	c.873G>T	c.(871-873)caG>caT	p.Q291H		NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						TTAGAAAAGGCTGGTAATATA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	78	78			NA	NA	19		NA											NA				12692016		2203	4300	6503	SO:0001583	missense			AB033024	CCDS12272.1	19p13.2	2013-01-08			ENSG00000188033	ENSG00000188033	57474	57474		Zinc fingers, C2H2-type, -	23705	protein-coding gene	gene with protein product					NA		Standard	NM_020714	NM_020714	NA	Approved	KIAA1198	uc002mtz.2	Q9ULM2	OTTHUMG00000156398	ENST00000311437.6:c.873G>T	19.37:g.12692016C>A	ENSP00000311521:p.Gln291His	NA		37	CCDS12272.1	.	.	.	.	.	.	.	.	.	.	C	4.383	0.070744	0.08436	.	.	ENSG00000188033	ENST00000311437	T	0.08984	3.03	0.996	-1.99	0.07457	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03915	0.0110	N	0.12887	0.27	0.09310	N	1	P	0.47034	0.889	B	0.40565	0.333	T	0.25779	-1.0122	9	0.87932	D	0	.	2.6343	0.04953	0.2996:0.2591:0.0:0.4413	.	291	Q9ULM2	ZN490_HUMAN	H	291	ENSP00000311521:Q291H	ENSP00000311521:Q291H	Q	-	3	2	ZNF490	12553016	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-6.240000	0.00074	-1.451000	0.01933	-0.339000	0.08088	CAG	ZNF490-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344073.1		-	ENST00000311437.6	Missense_Mutation	SNP	19 : 12692016 - 12692016 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	386	80
MAEA	10296	broad.mit.edu	37	4	1305803	1305803	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1305803G>A	ENST00000510794.1	+	2	307	c.103G>A	c.(103-105)Gct>Act	p.A35T	MAEA_ENST00000514708.1_Missense_Mutation_p.A36T|MAEA_ENST00000505839.1_5'UTR|MAEA_ENST00000264750.6_Missense_Mutation_p.A36T|MAEA_ENST00000452175.2_Missense_Mutation_p.A25T|MAEA_ENST00000505177.2_Missense_Mutation_p.A36T|MAEA_ENST00000303400.4_Missense_Mutation_p.A36T			Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	36	Extracellular and involved in cell to cell contact.				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding	p.A36T(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			CTTTCGCGCCGCTCAGAAGAA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											71	57	62			NA	NA	4		NA											NA				1305803		2203	4300	6503	SO:0001583	missense			AF084928	CCDS33936.1, CCDS33937.1, CCDS75090.1	4p16.3	2012-07-20			ENSG00000090316	ENSG00000090316	10296	10296			13731	protein-coding gene	gene with protein product	GID complex subunit 9, FYV10 homolog (S. cerevisiae)	606801			NA	9763581	Standard	NM_005882	XM_005272243	NA	Approved	EMP, GID9	uc003gda.3	Q7L5Y9	OTTHUMG00000160169	ENST00000510794.1:c.103G>A	4.37:g.1305803G>A	ENSP00000426807:p.Ala35Thr	NA	O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84	37		.	.	.	.	.	.	.	.	.	.	G	25.6	4.657007	0.88154	.	.	ENSG00000090316	ENST00000303400;ENST00000505177;ENST00000503653;ENST00000264750;ENST00000382947;ENST00000539495;ENST00000502558;ENST00000452175;ENST00000514708;ENST00000510794	T;T;T;T;T;T;T;T	0.49432	0.87;0.86;0.81;0.86;0.78;0.8;0.84;0.85	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.64494	0.2603	M	0.81614	2.55	0.48696	D	0.99969	P;D;P;P;D;B	0.58268	0.918;0.971;0.914;0.474;0.982;0.41	B;P;P;B;P;B	0.52627	0.391;0.459;0.596;0.126;0.704;0.115	T	0.61491	-0.7052	10	0.30078	T	0.28	-5.4561	20.3775	0.98923	0.0:0.0:1.0:0.0	.	35;36;36;36;36;36	B4DVN3;E7ESC7;Q7L5Y9-2;D6RIB6;Q7L5Y9-3;Q7L5Y9	.;.;.;.;.;MAEA_HUMAN	T	36;36;36;36;36;36;36;25;36;35	ENSP00000302830:A36T;ENSP00000422215:A36T;ENSP00000421644:A36T;ENSP00000264750:A36T;ENSP00000426903:A36T;ENSP00000411415:A25T;ENSP00000427512:A36T;ENSP00000426807:A35T	ENSP00000264750:A36T	A	+	1	0	MAEA	1295803	1.000000	0.71417	0.962000	0.40283	0.891000	0.51852	9.479000	0.97929	2.819000	0.97034	0.655000	0.94253	GCT	MAEA-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000359516.1		+	ENST00000510794.1	Missense_Mutation	SNP	4 : 1305803 - 1305803 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	57
SLC24A1	9187	broad.mit.edu	37	15	65917907	65917907	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65917907G>A	ENST00000399033.4	+	1	1571	c.1489G>A	c.(1489-1491)Gcc>Acc	p.A497T	SLC24A1_ENST00000537259.1_Missense_Mutation_p.A497T|SLC24A1_ENST00000261892.6_Missense_Mutation_p.A497T|SLC24A1_ENST00000339868.6_Missense_Mutation_p.A497T|SLC24A1_ENST00000546330.1_Missense_Mutation_p.A497T|SLC24A1_ENST00000544319.2_Missense_Mutation_p.A497T			O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	497					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	p.A497T(1)		breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGTGGCAGGCGCCACATTCAT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											124	132	129			NA	NA	15		NA											NA				65917907		2059	4222	6281	SO:0001583	missense			AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621	9187	9187		Solute carriers	10975	protein-coding gene	gene with protein product		603617			NA	9856482	Standard	NM_004727	NM_004727	NA	Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000399033.4:c.1489G>A	15.37:g.65917907G>A	ENSP00000381991:p.Ala497Thr	NA	O43485|O75184	37		.	.	.	.	.	.	.	.	.	.	G	34	5.329097	0.95733	.	.	ENSG00000074621	ENST00000537259;ENST00000261892;ENST00000339868;ENST00000544319;ENST00000399033;ENST00000546330	T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	5.39	5.39	0.77823	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.86226	0.5882	H	0.95850	3.73	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0	D	0.90079	0.4169	10	0.87932	D	0	.	18.3245	0.90248	0.0:0.0:1.0:0.0	.	497;497;497;497;497	O60721-2;Q17RM9;O60721;F5H127;B4E1W0	.;.;NCKX1_HUMAN;.;.	T	497	ENSP00000439693:A497T;ENSP00000261892:A497T;ENSP00000341837:A497T;ENSP00000445163:A497T;ENSP00000381991:A497T;ENSP00000439190:A497T	ENSP00000261892:A497T	A	+	1	0	SLC24A1	63704961	1.000000	0.71417	0.643000	0.29450	0.893000	0.52053	9.596000	0.98267	2.808000	0.96608	0.561000	0.74099	GCC	SLC24A1-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000397356.1		+	ENST00000399033.4	Missense_Mutation	SNP	15 : 65917907 - 65917907 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	532	125
MCF2L	23263	broad.mit.edu	37	13	113634067	113634067	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113634067G>T	ENST00000421756.1	+	1	442	c.86G>T	c.(85-87)aGg>aTg	p.R29M	MCF2L_ENST00000442652.2_Intron|MCF2L_ENST00000375601.3_Missense_Mutation_p.R29M|MCF2L_ENST00000375608.3_Intron|MCF2L_ENST00000535094.2_Intron|MCF2L_ENST00000375604.2_Intron|MCF2L_ENST00000397030.1_Intron			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	0					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GGGCGCTCGAGGCCAGGTGAG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	26	24			NA	NA	13		NA											NA				113634067		1567	3581	5148	SO:0001583	missense			AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217	23263	23263		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	14576	protein-coding gene	gene with protein product		609499			NA	9205841	Standard		NM_001112732	NA	Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000421756.1:c.86G>T	13.37:g.113634067G>T	ENSP00000397285:p.Arg29Met	NA	A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DIL6|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	37		.	.	.	.	.	.	.	.	.	.	G	9.384	1.073736	0.20147	.	.	ENSG00000126217	ENST00000421756;ENST00000375601	T;T	0.35973	1.33;1.28	3.45	-1.86	0.07760	.	.	.	.	.	T	0.24236	0.0587	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30794	-0.9966	6	0.48119	T	0.1	.	0.3721	0.00381	0.3585:0.2131:0.2461:0.1822	.	.	.	.	M	29	ENSP00000397285:R29M;ENSP00000364751:R29M	ENSP00000364751:R29M	R	+	2	0	MCF2L	112682068	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.069000	0.11542	-0.348000	0.08286	-0.362000	0.07510	AGG	MCF2L-024	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000156138.4		+	ENST00000421756.1	Missense_Mutation	SNP	13 : 113634067 - 113634067 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	173	44
HOXB3	3213	broad.mit.edu	37	17	46629754	46629754	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46629754C>A	ENST00000489475.1	-	4	597				HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000476342.1_Missense_Mutation_p.G28V|HOXB3_ENST00000311626.4_Missense_Mutation_p.G28V|HOXB3_ENST00000485909.2_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000470495.1_Missense_Mutation_p.G28V|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000498678.1_Missense_Mutation_p.G28V			P14651	HXB3_HUMAN	homeobox B3	NA					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GACATCGAAGCCGAAGCCATT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	42	39			NA	NA	17		NA											NA				46629754		2203	4300	6503	SO:0001627	intron_variant				CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093	3213	3213		Homeoboxes / ANTP class : HOXL subclass	5114	protein-coding gene	gene with protein product		142966	homeo box B3	HOX2, HOX2G	NA	1973146, 1358459	Standard		XM_006721854	NA	Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000489475.1:c.105-32G>T	17.37:g.46629754C>A		NA	A8K567|D3DTV3|O95615|P17484	37		.	.	.	.	.	.	.	.	.	.	C	13.65	2.301237	0.40694	.	.	ENSG00000120093	ENST00000470495;ENST00000311626;ENST00000498678;ENST00000476342	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96	3.94	2.95	0.34219	.	0.123452	0.53938	U	0.000054	D	0.92410	0.7591	L	0.56340	1.77	0.80722	D	1	D	0.58268	0.982	P	0.53450	0.726	D	0.92047	0.5645	10	0.52906	T	0.07	.	13.8671	0.63594	0.0:0.8458:0.1542:0.0	.	28	P14651	HXB3_HUMAN	V	28	ENSP00000417207:G28V;ENSP00000308252:G28V;ENSP00000420595:G28V;ENSP00000418892:G28V	ENSP00000308252:G28V	G	-	2	0	HOXB3	43984753	1.000000	0.71417	1.000000	0.80357	0.012000	0.07955	4.313000	0.59160	0.986000	0.38683	-0.304000	0.09214	GGC	HOXB3-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000358265.1		-	ENST00000489475.1	Intron	SNP	17 : 46629754 - 46629754 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	285	48
FTHL17	53940	broad.mit.edu	37	X	31089968	31089968	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:31089968A>G	ENST00000359202.3	-	1	202	c.103T>C	c.(103-105)Tac>Cac	p.Y35H		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	35	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	p.Y35N(2)		endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						ATAGACAGGTACAGGTAGGAG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	liver(2)											84	74	77			NA	NA	X		NA											NA				31089968		2202	4300	6502	SO:0001583	missense			AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446	53940	53940			3987	protein-coding gene	gene with protein product	cancer/testis antigen 38	300308			NA	11279525	Standard	NM_031894	NM_031894	NA	Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.103T>C	X.37:g.31089968A>G	ENSP00000368207:p.Tyr35His	NA	Q6NT24|Q6NTE2	37	CCDS14227.1	.	.	.	.	.	.	.	.	.	.	A	14.82	2.648995	0.47362	.	.	ENSG00000132446	ENST00000359202	D	0.86097	-2.07	3.55	-0.386	0.12466	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.142334	0.48767	D	0.000174	D	0.92851	0.7726	H	0.96720	3.87	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84279	0.0493	10	0.87932	D	0	.	5.025	0.14379	0.4797:0.3485:0.0:0.1717	.	35	Q9BXU8	FHL17_HUMAN	H	35	ENSP00000368207:Y35H	ENSP00000368207:Y35H	Y	-	1	0	FTHL17	30999889	0.519000	0.26242	0.000000	0.03702	0.074000	0.17049	4.060000	0.57477	-0.165000	0.10908	0.437000	0.28790	TAC	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056178.1		-	ENST00000359202.3	Missense_Mutation	SNP	X : 31089968 - 31089968 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	462	53
WDR34	89891	broad.mit.edu	37	9	131397201	131397201	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131397201C>A	ENST00000372715.2	-	7	1042		c.e7-1		WDR34_ENST00000483181.1_Splice_Site	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	NA						cytoplasm				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						CGCGGGGATGCTGTGGAGAAA	0.627		NA									OREG0019522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	24	22			NA	NA	9		NA											NA				131397201		2203	4299	6502	SO:0001630	splice_region_variant			BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333	89891	89891		WD repeat domain containing	28296	protein-coding gene	gene with protein product		613363			NA	19521662, 21953912, 24183451	Standard	NM_052844	NM_052844	NA	Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.982-1G>T	9.37:g.131397201C>A		1587	Q5VXV4|Q9BV46	37	CCDS6906.2	.	.	.	.	.	.	.	.	.	.	C	11.03	1.520168	0.27211	.	.	ENSG00000119333	ENST00000372715	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8239	0.88658	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDR34	130437022	1.000000	0.71417	0.969000	0.41365	0.017000	0.09413	4.909000	0.63314	2.448000	0.82819	0.561000	0.74099	.	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054463.1	Intron	-	ENST00000372715.2	Splice_Site	SNP	9 : 131397201 - 131397201 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	174	33
C9orf171	389799	broad.mit.edu	37	9	135374874	135374874	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135374874G>A	ENST00000393215.3	+	3	640	c.411G>A	c.(409-411)gaG>gaA	p.E137E	C9orf171_ENST00000393216.2_Silent_p.E137E|C9orf171_ENST00000343036.2_Silent_p.E173E			Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	173			G -> R (in dbSNP:rs7047726).							large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CTGCCCGGGAGAACTTGCTCT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	87	86			NA	NA	9		NA											NA				135374874		2203	4300	6503	SO:0001819	synonymous_variant			AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523	389799	389799			33776	protein-coding gene	gene with protein product					NA		Standard	NM_207417	NM_207417	NA	Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000393215.3:c.411G>A	9.37:g.135374874G>A		NA	Q147X1	37																																																																																				C9orf171-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000254590.1		+	ENST00000393215.3	Silent	SNP	9 : 135374874 - 135374874 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	769	132
HSPA5	3309	broad.mit.edu	37	9	128000926	128000926	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128000926C>T	ENST00000324460.6	-	6	1380	c.1177G>A	c.(1177-1179)Gct>Act	p.A393T		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	393					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	TACGCTACAGCTTCATCTGGG	0.473		NA								Prostate(1;0.17)			C	0	0	NA	NA	2184	NA	1	,	,	NA	2e-04	NA	NA	NA	0	0	EXOME	NA	NA	6e-04	SNP								NA				0													113	95	101			NA	NA	9		NA											NA				128000926		2203	4300	6503	SO:0001583	missense				CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574	3309	3309		Heat shock proteins / HSP70	5238	protein-coding gene	gene with protein product		138120	heat shock 70kD protein 5 (glucose-regulated protein, 78kD)	GRP78	NA		Standard		NM_005347	NA	Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.1177G>A	9.37:g.128000926C>T	ENSP00000324173:p.Ala393Thr	NA	B0QZ61|Q2EF78|Q9NPF1|Q9UK02	37	CCDS6863.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	32	5.158521	0.94686	.	.	ENSG00000044574	ENST00000324460	T	0.01313	5.02	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.17023	0.0409	H	0.98048	4.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.35450	-0.9788	10	0.87932	D	0	-2.8727	16.4549	0.84009	0.0:1.0:0.0:0.0	.	393	P11021	GRP78_HUMAN	T	393	ENSP00000324173:A393T	ENSP00000324173:A393T	A	-	1	0	HSPA5	127040747	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.818000	0.86416	2.097000	0.63578	0.563000	0.77884	GCT	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054062.1		-	ENST00000324460.6	Missense_Mutation	SNP	9 : 128000926 - 128000926 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	487	72
USP6	9098	broad.mit.edu	37	17	5042848	5042848	+	Silent	SNP	G	G	A	rs61761605		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5042848G>A	ENST00000574788.1	+	22	3607	c.1377G>A	c.(1375-1377)acG>acA	p.T459T	USP6_ENST00000250066.6_Silent_p.T459T|USP6_ENST00000304328.5_Silent_p.T142T|USP6_ENST00000332776.4_Silent_p.T459T			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	459					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GGCTCCCAACGGACCTGGATA	0.622		NA	T	COL1A1, CDH11, ZNF9, OMD	aneurysmal bone cysts								G	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	2e-04	NA	NA	NA	5e-04	0.9547	EXOME	NA	NA	2e-04	SNP			Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0													48	56	53			NA	NA	17		NA											NA				5042848		2203	4300	6503	SO:0001819	synonymous_variant			X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	9098	9098	3.4.19.12	Ubiquitin-specific peptidases	12629	protein-coding gene	gene with protein product	ubiquitin carboxyl-terminal hydrolase 6, TBC1D3 and USP32 fusion, Tre-2 oncogene	604334	ubiquitin specific protease 6 (Tre-2 oncogene), TRE oncogene, Smith Magenis syndrome chromosome region, ubiquitin specific peptidase 6 (Tre-2 oncogene)	HRP1, TRESMCR	NA	12838346, 1349106	Standard	NM_004505	NM_004505	NA	Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.1377G>A	17.37:g.5042848G>A		NA	Q15634|Q86WP6|Q8IWT4	37	CCDS11069.2																																																																																			USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438990.1		+	ENST00000574788.1	Silent	SNP	17 : 5042848 - 5042848 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	409	60
FMO2	2327	broad.mit.edu	37	1	171173107	171173107	+	Missense_Mutation	SNP	G	G	A	rs144453751		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171173107G>A	ENST00000209929.7	+	6	889	c.731G>A	c.(730-732)cGc>cAc	p.R244H	FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000441535.1_Missense_Mutation_p.R244H|RP1-127D3.4_ENST00000422841.1_RNA			Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	244					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCTATGCTCCGCAATGTACTG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	0,4406		0,0,2203	124	100	108		731	2.1	0.5	1	dbSNP_134	108	2,8598	2.2+/-6.3	0,2,4298	no	missense	FMO2	NM_001460.2	29	0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154	benign	244/472	171173107	2,13004	2203	4300	6503	SO:0001583	missense			BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963	2327	2327			3770	protein-coding gene	gene with protein product		603955	flavin containing monooxygenase 2		NA	1417778, 9804831	Standard	NM_001460	XR_426768	NA	Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.731G>A	1.37:g.171173107G>A	ENSP00000209929:p.Arg244His	NA	Q5EBX4|Q9BRX1	37	CCDS1293.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080127	0.36662	0.0	2.33E-4	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.55413	0.52;0.52	6.13	2.14	0.27477	.	0.510314	0.20530	N	0.090523	T	0.49423	0.1556	M	0.69523	2.12	0.20196	N	0.999921	D	0.64830	0.994	D	0.66084	0.941	T	0.42378	-0.9455	10	0.30078	T	0.28	-4.5642	8.6367	0.33953	0.4608:0.0:0.5392:0.0	.	244	Q99518	FMO2_HUMAN	H	244	ENSP00000209929:R244H;ENSP00000405905:R244H	ENSP00000209929:R244H	R	+	2	0	FMO2	169439731	0.000000	0.05858	0.525000	0.27900	0.025000	0.11179	-0.123000	0.10611	0.151000	0.19162	-0.141000	0.14075	CGC	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086216.2		+	ENST00000209929.7	Missense_Mutation	SNP	1 : 171173107 - 171173107 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	299	54
TAF4	6874	broad.mit.edu	37	20	60575234	60575234	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60575234C>A	ENST00000252996.4	-	11	2732	c.2733G>T	c.(2731-2733)caG>caT	p.Q911H		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	NA					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CTACAAGATTCTGTAGCCTTT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	125	128			NA	NA	20		NA											NA				60575234		2203	4300	6503	SO:0001583	missense			Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699	6874	6874			11537	protein-coding gene	gene with protein product		601796	TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD	TAF4A, TAF2C1, TAF2C	NA	8942982, 9192867	Standard	NM_003185	NM_003185	NA	Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2733G>T	20.37:g.60575234C>A	ENSP00000252996:p.Gln911His	NA	A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	37	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220788	0.58560	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.25912	1.77;1.77	4.7	1.66	0.24008	Histone-fold (2);Transcription initiation factor TFIID component TAF4 (1);	0.070768	0.64402	D	0.000019	T	0.32704	0.0838	L	0.38531	1.155	0.58432	D	0.999999	D	0.71674	0.998	D	0.70935	0.971	T	0.08046	-1.0741	10	0.72032	D	0.01	-11.4158	5.8129	0.18475	0.0:0.508:0.0:0.492	.	911	O00268	TAF4_HUMAN	H	911;775	ENSP00000252996:Q911H;ENSP00000399091:Q775H	ENSP00000252996:Q911H	Q	-	3	2	TAF4	60008629	1.000000	0.71417	0.986000	0.45419	0.972000	0.66771	0.964000	0.29306	0.969000	0.38237	-0.258000	0.10820	CAG	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079968.2		-	ENST00000252996.4	Missense_Mutation	SNP	20 : 60575234 - 60575234 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	434	71
MCOLN2	255231	broad.mit.edu	37	1	85412808	85412808	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85412808A>C	ENST00000370608.3	-	7	822	c.755T>G	c.(754-756)tTt>tGt	p.F252C	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.F224C	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	252						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		TTTATTGTCAAAGATAATCTG	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	120	120			NA	NA	1		NA											NA				85412808		2203	4297	6500	SO:0001583	missense			AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898	255231	255231		Voltage-gated ion channels / Transient receptor potential cation channels	13357	protein-coding gene	gene with protein product		607399			NA	16382100	Standard	NM_153259	XM_005270719	NA	Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.755T>G	1.37:g.85412808A>C	ENSP00000359640:p.Phe252Cys	NA	A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	37	CCDS30762.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.210170	0.58343	.	.	ENSG00000153898	ENST00000370608;ENST00000284027	D;D	0.87029	-2.2;-2.2	5.76	4.62	0.57501	.	0.149988	0.64402	D	0.000008	D	0.90235	0.6947	M	0.84326	2.69	0.58432	D	0.999997	D	0.71674	0.998	P	0.60789	0.879	D	0.91260	0.5036	10	0.87932	D	0	-25.6273	11.5912	0.50947	0.854:0.0:0.0:0.146	.	252	Q8IZK6	MCLN2_HUMAN	C	252;224	ENSP00000359640:F252C;ENSP00000284027:F224C	ENSP00000284027:F224C	F	-	2	0	MCOLN2	85185396	1.000000	0.71417	0.906000	0.35671	0.586000	0.36452	7.081000	0.76844	0.984000	0.38629	0.472000	0.43445	TTT	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000027567.2		-	ENST00000370608.3	Missense_Mutation	SNP	1 : 85412808 - 85412808 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	341	65
MYL6	4637	broad.mit.edu	37	12	56552389	56552389	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56552389G>T	ENST00000536128.1	+	1	244	c.204G>T	c.(202-204)tgG>tgT	p.W68C	MYL6_ENST00000348108.4_Intron|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000551589.1_Intron|MYL6_ENST00000548400.1_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000548293.1_Intron|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000550697.1_Intron|MYL6_ENST00000549566.1_Missense_Mutation_p.W68C			P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	0					axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			AGAGTTTGTGGGTCAGAGTTT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	56	55			NA	NA	12		NA											NA				56552389		692	1591	2283	SO:0001583	missense			AB046613	CCDS8906.1, CCDS31834.1	12q13.13	2013-01-10	2006-09-29			ENSG00000092841	4637	4637		Myosins / Light chain, EF-hand domain containing	7587	protein-coding gene	gene with protein product		609931	myosin, light polypeptide 6, alkali, smooth muscle and non-muscle		NA	8188229, 2304459, 2722814	Standard		NM_021019	NA	Approved	ESMLC, MLC3NM, MLC1SM	uc001sjx.2	P60660		ENST00000536128.1:c.204G>T	12.37:g.56552389G>T	ENSP00000441750:p.Trp68Cys	NA	P16475|P24572|P24573|Q12790|Q561V9|Q6IAZ0|Q6IPY5	37		.	.	.	.	.	.	.	.	.	.	N	9.449	1.089972	0.20390	.	.	ENSG00000092841	ENST00000549566;ENST00000536128	T;T	0.77877	-0.94;-1.13	1.61	0.7	0.18099	.	.	.	.	.	T	0.81375	0.4809	.	.	.	0.24625	N	0.993655	D	0.63046	0.992	P	0.61722	0.893	T	0.68265	-0.5454	8	0.62326	D	0.03	.	4.1351	0.10167	0.2162:0.0:0.7838:0.0	.	68	B7Z6Z4	.	C	68	ENSP00000446709:W68C;ENSP00000441750:W68C	ENSP00000441750:W68C	W	+	3	0	MYL6	54838656	0.364000	0.24997	0.738000	0.30950	0.755000	0.42902	0.981000	0.29526	0.314000	0.23086	0.544000	0.68410	TGG	MYL6-005	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000407927.2		+	ENST00000536128.1	Missense_Mutation	SNP	12 : 56552389 - 56552389 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	744	141
OR1L1	26737	broad.mit.edu	37	9	125423951	125423951	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125423951G>A	ENST00000373686.1	+	1	107	c.107G>A	c.(106-108)aGa>aAa	p.R36K				Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						GATGTTGGAAGAATCTGTTAC	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	89	89			NA	NA	9		NA											NA				125423951		2203	4300	6503	SO:0001583	missense				CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679	26737	26737		GPCR / Class A : Olfactory receptors	8213	protein-coding gene	gene with protein product				OR1L2	NA		Standard		NM_001005236	NA	Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.107G>A	9.37:g.125423951G>A	ENSP00000362790:p.Arg36Lys	NA	Q5T7Z3|Q6IFN2	37		.	.	.	.	.	.	.	.	.	.	G	9.275	1.046613	0.19748	.	.	ENSG00000173679	ENST00000373686	T	0.00032	8.88	2.87	-2.74	0.05932	.	.	.	.	.	T	0.00073	0.0002	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06041	-1.0849	8	0.06494	T	0.89	.	5.6596	0.17662	0.6407:0.0:0.2074:0.1519	.	36	Q8NH94	OR1L1_HUMAN	K	36	ENSP00000362790:R36K	ENSP00000362790:R36K	R	+	2	0	OR1L1	124463772	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.408000	0.02485	-0.656000	0.05380	0.313000	0.20887	AGA	OR1L1-201	KNOWN	basic	protein_coding	NA	protein_coding			+	ENST00000373686.1	Missense_Mutation	SNP	9 : 125423951 - 125423951 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	332	33
KCNH7	90134	broad.mit.edu	37	2	163279902	163279902	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163279902G>A	ENST00000332142.5	-	9	2197	c.2098C>T	c.(2098-2100)Ctt>Ttt	p.L700F	KCNH7_ENST00000328032.4_Missense_Mutation_p.L693F	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	700					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.L700I(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TATTCTTCAAGACGTTGCCTC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(196;1492 2208 17507 24132 45496)							NA				1	Substitution - Missense(1)	large_intestine(1)											253	235	242			NA	NA	2		NA											NA				163279902		2203	4300	6503	SO:0001583	missense			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611	90134	90134		Potassium channels, Voltage-gated ion channels / Potassium channels	18863	protein-coding gene	gene with protein product		608169			NA	16382104	Standard	NM_033272	NM_173162	NA	Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2098C>T	2.37:g.163279902G>A	ENSP00000331727:p.Leu700Phe	NA	Q53QU4|Q53TB7|Q53TP9|Q8IV15	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	33	5.206461	0.95033	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.96913	-4.17;-4.17	5.95	5.95	0.96441	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.98457	0.9486	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.991	D	0.98837	1.0753	10	0.87932	D	0	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	693;700	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	F	700;693	ENSP00000331727:L700F;ENSP00000333781:L693F	ENSP00000333781:L693F	L	-	1	0	KCNH7	162988148	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.729000	0.74775	2.824000	0.97209	0.655000	0.94253	CTT	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255093.1		-	ENST00000332142.5	Missense_Mutation	SNP	2 : 163279902 - 163279902 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1145	302
CNNM1	26507	broad.mit.edu	37	10	101090473	101090473	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101090473C>T	ENST00000356713.4	+	1	1618	c.1329C>T	c.(1327-1329)cgC>cgT	p.R443R	CNNM1_ENST00000370534.4_Silent_p.R78R|CNNM1_ENST00000446890.1_Silent_p.R372R|CNNM1_ENST00000370528.3_Silent_p.R372R	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	443	CBS 1.				ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		TCATGCTGCGCTCAGACGCGG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	66	71			NA	NA	10		NA											NA				101090473		2203	4300	6503	SO:0001819	synonymous_variant			AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946	26507	26507			102	protein-coding gene	gene with protein product		607802	cyclin M1	ACDP1	NA	21393841	Standard	NM_020348	NM_020348	NA	Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.1329C>T	10.37:g.101090473C>T		NA	Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	37	CCDS7478.2																																																																																			CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049792.2		+	ENST00000356713.4	Silent	SNP	10 : 101090473 - 101090473 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	355	61
RAD9B	144715	broad.mit.edu	37	12	110960151	110960151	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110960151A>G	ENST00000409778.3	+	8	877	c.853A>G	c.(853-855)Agt>Ggt	p.S285G	RAD9B_ENST00000409300.1_Missense_Mutation_p.S354G|RAD9B_ENST00000409425.1_Missense_Mutation_p.S282G|RAD9B_ENST00000392672.4_Missense_Mutation_p.S354G|RAD9B_ENST00000409246.1_Missense_Mutation_p.S282G			Q6WBX8	RAD9B_HUMAN	RAD9 homolog B (S. pombe)	351					cell cycle checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						TGGAGATGTCAGTGAAGTATC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	62	67			NA	NA	12		NA											NA				110960151		2203	4300	6503	SO:0001583	missense				CCDS9148.2, CCDS66469.1, CCDS73526.1, CCDS73527.1	12q24.13	2008-12-15	2008-12-15		ENSG00000151164	ENSG00000151164	144715	144715			21700	protein-coding gene	gene with protein product		608368			NA		Standard	NM_152442	NM_152442	NA	Approved	FLJ40346	uc001trf.4	Q6WBX8	OTTHUMG00000152952	ENST00000409778.3:c.853A>G	12.37:g.110960151A>G	ENSP00000386697:p.Ser285Gly	NA	Q5U5K0|Q6NVJ1|Q6ZVT7|Q8N7T9|Q96LI8	37		.	.	.	.	.	.	.	.	.	.	A	10.97	1.501926	0.26949	.	.	ENSG00000151164	ENST00000409246;ENST00000392672;ENST00000409300;ENST00000409425;ENST00000409778	T;T;T;T;T	0.24723	1.84;2.16;2.17;1.84;2.12	4.98	-4.0	0.04057	.	1.174800	0.06233	N	0.688940	T	0.12944	0.0314	N	0.25380	0.74	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.30937	-0.9961	10	0.30854	T	0.27	0.0269	0.5283	0.00624	0.2512:0.1341:0.2771:0.3376	.	285;354;351	B4DYM6;B4DX60;Q6WBX8	.;.;RAD9B_HUMAN	G	282;354;354;282;285	ENSP00000387329:S282G;ENSP00000376440:S354G;ENSP00000386434:S354G;ENSP00000386629:S282G;ENSP00000386697:S285G	ENSP00000376440:S354G	S	+	1	0	RAD9B	109444534	0.000000	0.05858	0.000000	0.03702	0.282000	0.26991	-0.101000	0.10973	-0.288000	0.09051	0.459000	0.35465	AGT	RAD9B-009	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000404634.1		+	ENST00000409778.3	Missense_Mutation	SNP	12 : 110960151 - 110960151 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	141	44
SYT5	6861	broad.mit.edu	37	19	55687147	55687147	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55687147C>T	ENST00000354308.3	-	5	839	c.470G>A	c.(469-471)cGg>cAg	p.R157Q	SYT5_ENST00000590851.1_Missense_Mutation_p.R154Q|SYT5_ENST00000537500.1_Missense_Mutation_p.R157Q|CTD-2587H24.5_ENST00000591665.1_RNA	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	157	C2 1.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GTACCGCCTCCGTTTGTCCGG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	106	107			NA	NA	19		NA											NA				55687147		2203	4300	6503	SO:0001583	missense			X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990	6861	6861		Synaptotagmins	11513	protein-coding gene	gene with protein product	synaptotagmin 5	600782			NA	9177789	Standard	NM_003180	XM_006723338	NA	Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.470G>A	19.37:g.55687147C>T	ENSP00000346265:p.Arg157Gln	NA	Q86X72	37	CCDS12919.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667558	0.88348	.	.	ENSG00000129990	ENST00000537500;ENST00000354308;ENST00000543844	T;T	0.69040	-0.37;-0.37	4.54	1.16	0.20824	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.124256	0.52532	N	0.000078	T	0.50326	0.1609	N	0.17564	0.495	0.36617	D	0.875536	D;B;D	0.56968	0.978;0.304;0.957	P;B;P	0.50537	0.603;0.028;0.643	T	0.55885	-0.8070	10	0.66056	D	0.02	.	2.4942	0.04617	0.2129:0.4374:0.0:0.3497	.	154;157;157	B7Z300;Q4FD32;O00445	.;.;SYT5_HUMAN	Q	157;157;154	ENSP00000442896:R157Q;ENSP00000346265:R157Q	ENSP00000346265:R157Q	R	-	2	0	SYT5	60378959	1.000000	0.71417	0.603000	0.28903	0.821000	0.46438	3.265000	0.51561	0.584000	0.29591	0.555000	0.69702	CGG	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452501.1		-	ENST00000354308.3	Missense_Mutation	SNP	19 : 55687147 - 55687147 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	507	50
NEB	4703	broad.mit.edu	37	2	152520341	152520341	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152520341T>G	ENST00000603639.1	-	43	5483	c.5484A>C	c.(5482-5484)aaA>aaC	p.K1828N	NEB_ENST00000604864.1_Missense_Mutation_p.K1828N|NEB_ENST00000427231.2_Missense_Mutation_p.K1828N|NEB_ENST00000397345.3_Missense_Mutation_p.K1828N|NEB_ENST00000172853.10_Missense_Mutation_p.K1828N|NEB_ENST00000409198.1_Missense_Mutation_p.K1828N			P20929	NEBU_HUMAN	nebulin	1828					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTGTTTCCCTTTGGCTTGTT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	76	76			NA	NA	2		NA											NA				152520341		1894	4126	6020	SO:0001583	missense			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091	4703	4703			7720	protein-coding gene	gene with protein product	nemaline myopathy type 2	161650		NEM2	NA	10051637, 9359044	Standard	NM_004543	NM_001164507	NA	Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000603639.1:c.5484A>C	2.37:g.152520341T>G	ENSP00000473894:p.Lys1828Asn	NA	Q15346|Q53QQ2|Q53TG8	37	CCDS54407.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.985387	0.74474	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.55	4.39	0.52855	.	0.104362	0.64402	D	0.000003	T	0.74711	0.3752	M	0.74467	2.265	0.80722	D	1	D	0.63880	0.993	D	0.64687	0.928	T	0.76055	-0.3099	10	0.49607	T	0.09	.	11.1655	0.48541	0.0:0.0721:0.0:0.9279	.	1828	P20929	NEBU_HUMAN	N	1828	ENSP00000386259:K1828N;ENSP00000380505:K1828N;ENSP00000416578:K1828N;ENSP00000172853:K1828N	ENSP00000172853:K1828N	K	-	3	2	NEB	152228587	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.756000	0.38390	2.237000	0.73441	0.528000	0.53228	AAA	NEB-017	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000469059.2		-	ENST00000603639.1	Missense_Mutation	SNP	2 : 152520341 - 152520341 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	369	64
RPAP3	79657	broad.mit.edu	37	12	48073291	48073291	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48073291C>T	ENST00000005386.3	-	12	1387	c.1272G>A	c.(1270-1272)ccG>ccA	p.P424P	RPAP3_ENST00000432584.3_Silent_p.P265P|RPAP3_ENST00000380650.4_Intron	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	424							binding			endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					ATCCAGGATGCGGTGGATTAT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	91	94			NA	NA	12		NA											NA				48073291		2203	4300	6503	SO:0001819	synonymous_variant			AK025561	CCDS8753.1, CCDS53782.1, CCDS53783.1	12q13.11	2013-01-10				ENSG00000005175	79657	79657		Tetratricopeptide (TTC) repeat domain containing	26151	protein-coding gene	gene with protein product		611477			NA	17643375	Standard	NM_024604	NM_024604	NA	Approved	FLJ21908, spag	uc001rpr.3	Q9H6T3	OTTHUMG00000169668	ENST00000005386.3:c.1272G>A	12.37:g.48073291C>T		NA	Q6PHR5	37	CCDS8753.1																																																																																			RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405340.1		-	ENST00000005386.3	Silent	SNP	12 : 48073291 - 48073291 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	207	33
DLGAP1	9229	broad.mit.edu	37	18	3814267	3814267	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3814267G>A	ENST00000315677.3	-	5	1559	c.964C>T	c.(964-966)Caa>Taa	p.Q322*	DLGAP1_ENST00000539435.1_Nonsense_Mutation_p.Q20*|DLGAP1_ENST00000400155.1_Nonsense_Mutation_p.Q28*|DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000581527.1_Nonsense_Mutation_p.Q322*|DLGAP1_ENST00000515196.2_Nonsense_Mutation_p.Q322*|DLGAP1_ENST00000534970.1_Nonsense_Mutation_p.Q34*|DLGAP1_ENST00000400147.2_Nonsense_Mutation_p.Q20*|DLGAP1_ENST00000400150.3_Nonsense_Mutation_p.Q28*|DLGAP1_ENST00000584874.1_Nonsense_Mutation_p.Q322*|DLGAP1_ENST00000581699.1_Nonsense_Mutation_p.Q28*|DLGAP1_ENST00000400145.2_Nonsense_Mutation_p.Q20*|DLGAP1_ENST00000400149.3_Nonsense_Mutation_p.Q30*	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	322					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CATTCATCTTGTGGAACCTAT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	90	91			NA	NA	18		NA											NA				3814267		2203	4300	6503	SO:0001587	stop_gained			AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579	9229	9229			2905	protein-coding gene	gene with protein product		605445	discs, large (Drosophila) homolog-associated protein 1		NA	9024696, 9286858	Standard		NM_004746	NA	Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.964C>T	18.37:g.3814267G>A	ENSP00000316377:p.Gln322*	NA	B2RMU8|B7WPA1|O14489|P78335	37	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	G	36	5.900017	0.97081	.	.	ENSG00000170579	ENST00000315677;ENST00000400147;ENST00000400150;ENST00000400149;ENST00000400155;ENST00000534970;ENST00000539435;ENST00000400145;ENST00000515196	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-16.5534	20.422	0.99049	0.0:0.0:1.0:0.0	.	.	.	.	X	322;20;28;30;28;34;20;20;322	.	ENSP00000316377:Q322X	Q	-	1	0	DLGAP1	3804267	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.749000	0.85096	2.832000	0.97577	0.655000	0.94253	CAA	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254394.4		-	ENST00000315677.3	Nonsense_Mutation	SNP	18 : 3814267 - 3814267 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	604	103
PCDHB14	56122	broad.mit.edu	37	5	140604406	140604406	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140604406C>T	ENST00000239449.4	+	1	1329	c.1329C>T	c.(1327-1329)gaC>gaT	p.D443D	PCDHB14_ENST00000515856.2_Silent_p.D290D	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	443	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCTCTGACGTCAATGACA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(141;50 1831 27899 33809 37648)							NA				0													155	148	150			NA	NA	5		NA											NA				140604406		2203	4300	6503	SO:0001819	synonymous_variant			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327	56122	56122		Cadherins / Protocadherins : Clustered	8685	other	protocadherin		606340			NA	10380929	Standard	NM_018934	NM_018934	NA	Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1329C>T	5.37:g.140604406C>T		NA	Q4FZA4|Q4KN11	37	CCDS4256.1																																																																																			PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251814.2		+	ENST00000239449.4	Silent	SNP	5 : 140604406 - 140604406 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1364	286
ZBTB4	57659	broad.mit.edu	37	17	7367040	7367040	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7367040G>A	ENST00000311403.4	-	4	1600	c.1261C>T	c.(1261-1263)Cgg>Tgg	p.R421W	ZBTB4_ENST00000380599.4_Missense_Mutation_p.R421W	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		TTGGCTGCCCGCATGGGGAGC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	91	88			NA	NA	17		NA											NA				7367040		2203	4300	6503	SO:0001583	missense			AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282	57659	57659		-, BTB/POZ domain containing, Zinc fingers, C2H2-type	23847	protein-coding gene	gene with protein product		612308			NA	12477932	Standard	NM_020899	NM_020899	NA	Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.1261C>T	17.37:g.7367040G>A	ENSP00000307858:p.Arg421Trp	NA	B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	37	CCDS11107.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370297	0.61624	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	T;T	0.04502	3.61;3.61	4.92	2.78	0.32641	.	0.169883	0.38897	N	0.001539	T	0.10551	0.0258	L	0.27053	0.805	0.39854	D	0.973289	D	0.89917	1.0	D	0.79108	0.992	T	0.11616	-1.0580	10	0.87932	D	0	-14.3833	11.3811	0.49757	0.0:0.0:0.6748:0.3252	.	421	Q9P1Z0	ZBTB4_HUMAN	W	421	ENSP00000307858:R421W;ENSP00000369973:R421W	ENSP00000307858:R421W	R	-	1	2	ZBTB4	7307764	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.996000	0.40776	1.274000	0.44362	0.456000	0.33151	CGG	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226940.2		-	ENST00000311403.4	Missense_Mutation	SNP	17 : 7367040 - 7367040 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	811	148
CCDC42	146849	broad.mit.edu	37	17	8638511	8638511	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8638511A>G	ENST00000293845.3	-	6	1002	c.776T>C	c.(775-777)aTt>aCt	p.I259T	CCDC42_ENST00000539522.2_Missense_Mutation_p.I185T	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	259										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						GGCCATCTTAATGGTGCCAAG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	114	125			NA	NA	17		NA											NA				8638511		2203	4300	6503	SO:0001583	missense			AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973	146849	146849			26528	protein-coding gene	gene with protein product					NA		Standard	NM_144681	NM_144681	NA	Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.776T>C	17.37:g.8638511A>G	ENSP00000293845:p.Ile259Thr	NA	Q8N6Q0	37	CCDS11145.1	.	.	.	.	.	.	.	.	.	.	A	16.61	3.169964	0.57584	.	.	ENSG00000161973	ENST00000293845;ENST00000539522	T;T	0.29397	1.57;1.58	5.05	5.05	0.67936	.	0.000000	0.56097	D	0.000021	T	0.42471	0.1204	L	0.37630	1.12	0.40759	D	0.982985	D	0.76494	0.999	D	0.70716	0.97	T	0.17471	-1.0368	10	0.24483	T	0.36	-13.7427	13.9048	0.63828	1.0:0.0:0.0:0.0	.	259	Q96M95	CCD42_HUMAN	T	259;185	ENSP00000293845:I259T;ENSP00000444359:I185T	ENSP00000293845:I259T	I	-	2	0	CCDC42	8579236	1.000000	0.71417	0.991000	0.47740	0.920000	0.55202	7.008000	0.76341	2.127000	0.65507	0.460000	0.39030	ATT	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442491.1		-	ENST00000293845.3	Missense_Mutation	SNP	17 : 8638511 - 8638511 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	248	10
SLC38A10	124565	broad.mit.edu	37	17	79219815	79219815	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79219815G>A	ENST00000374759.3	-	16	3284	c.2901C>T	c.(2899-2901)ggC>ggT	p.G967G		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	967					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CACCCTGCTCGCCATCAGAGA	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,3992		0,0,1996	23	28	26		2901	-8	0	17		26	1,8319		0,1,4159	no	coding-synonymous	SLC38A10	NM_001037984.1		0,1,6155	AA,AG,GG	NA	0.012,0.0,0.0081		967/1120	79219815	1,12311	1996	4160	6156	SO:0001819	synonymous_variant			BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637	124565	124565		Solute carriers	28237	protein-coding gene	gene with protein product					NA		Standard	NM_138570	XM_005257019	NA	Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.2901C>T	17.37:g.79219815G>A		NA	Q6ZRC5|Q8NA99|Q96C66	37	CCDS42397.1																																																																																			SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397747.1		-	ENST00000374759.3	Silent	SNP	17 : 79219815 - 79219815 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	362	76
RETSAT	54884	broad.mit.edu	37	2	85578815	85578815	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85578815C>T	ENST00000295802.4	-	2	455	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	RETSAT_ENST00000457495.2_Intron|RETSAT_ENST00000263854.6_Missense_Mutation_p.E115K	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	115					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GTGTCAAATTCAAGGCCATTC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	121	127			NA	NA	2		NA											NA				85578815		2203	4300	6503	SO:0001583	missense			AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	54884	54884	1.3.99.23		25991	protein-coding gene	gene with protein product					NA	12975309, 15358783	Standard	NM_017750	NM_017750	NA	Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.343G>A	2.37:g.85578815C>T	ENSP00000295802:p.Glu115Lys	NA	A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	37	CCDS1972.1	.	.	.	.	.	.	.	.	.	.	C	36	5.690342	0.96793	.	.	ENSG00000042445	ENST00000295802;ENST00000263854	T;T	0.58506	0.33;0.33	5.38	5.38	0.77491	.	0.056021	0.64402	D	0.000001	T	0.55986	0.1955	N	0.10945	0.07	0.80722	D	1	P	0.48503	0.911	P	0.57244	0.816	T	0.63857	-0.6542	10	0.62326	D	0.03	-13.4847	16.6368	0.85061	0.0:1.0:0.0:0.0	.	115	Q6NUM9	RETST_HUMAN	K	115	ENSP00000295802:E115K;ENSP00000263854:E115K	ENSP00000263854:E115K	E	-	1	0	RETSAT	85432326	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.637000	0.83313	2.532000	0.85374	0.655000	0.94253	GAA	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252489.1		-	ENST00000295802.4	Missense_Mutation	SNP	2 : 85578815 - 85578815 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	519	180
KDM1B	221656	broad.mit.edu	37	6	18197423	18197423	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18197423G>A	ENST00000297792.5	+	9	886	c.709G>A	c.(709-711)Gtg>Atg	p.V237M	KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000388870.2_Missense_Mutation_p.V369M|KDM1B_ENST00000397244.1_Missense_Mutation_p.V237M			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	369					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						AGTTCTCAGCGTGGGAGCCGA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	78	83			NA	NA	6		NA											NA				18197423		2203	4300	6503	SO:0001583	missense			AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097	221656	221656		Chromatin-modifying enzymes / K-demethylases	21577	protein-coding gene	gene with protein product		613081	amine oxidase, flavin containing 1, chromosome 6 open reading frame 193, amine oxidase (flavin containing) domain 1	C6orf193, AOF1	NA	19407342, 19727073	Standard	NM_153042	NM_153042	NA	Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.709G>A	6.37:g.18197423G>A	ENSP00000297792:p.Val237Met	NA	A2A2C5|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	37	CCDS34343.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609532	0.87258	.	.	ENSG00000165097	ENST00000388870;ENST00000397244;ENST00000297792;ENST00000388869	T;T;T	0.33438	1.43;1.41;1.41	5.97	5.97	0.96955	Homeodomain-like (1);SWIRM (1);	0.433457	0.23626	N	0.046194	T	0.41994	0.1183	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	0.99;1.0	P;D	0.66602	0.469;0.945	T	0.11717	-1.0576	10	0.54805	T	0.06	-19.5281	20.4135	0.99023	0.0:0.0:1.0:0.0	.	369;237	Q8NB78;A2A2C6	KDM1B_HUMAN;.	M	369;237;237;369	ENSP00000373522:V369M;ENSP00000380419:V237M;ENSP00000297792:V237M	ENSP00000297792:V237M	V	+	1	0	KDM1B	18305402	1.000000	0.71417	0.283000	0.24790	0.995000	0.86356	9.395000	0.97266	2.835000	0.97688	0.591000	0.81541	GTG	KDM1B-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277080.1		+	ENST00000297792.5	Missense_Mutation	SNP	6 : 18197423 - 18197423 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	243	38
ZSCAN12	9753	broad.mit.edu	37	6	28358503	28358503	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28358503C>T	ENST00000361028.1	-	4	1709	c.1564G>A	c.(1564-1566)Gag>Aag	p.E522K	ZSCAN12_ENST00000396827.3_Missense_Mutation_p.E522K					zinc finger and SCAN domain containing 12	NA										breast(2)|endometrium(3)|urinary_tract(1)	6						TAGGGCCTCTCTCCAGTGTGG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	85	89			NA	NA	6		NA											NA				28358503		692	1591	2283	SO:0001583	missense			AB007886		6p21	2013-01-08	2007-02-20	2007-02-20	ENSG00000158691	ENSG00000158691	9753	9753		-, Zinc fingers, C2H2-type	13172	protein-coding gene	gene with protein product		603978	zinc finger protein 305, zinc finger protein 96	ZNF305, ZNF96	NA	9244436	Standard	NM_014724	NM_001163391	NA	Approved	KIAA0426, ZNF29K1, ZFP96, dJ29K1.2	uc011dlh.2	O43309	OTTHUMG00000014522	ENST00000361028.1:c.1564G>A	6.37:g.28358503C>T	ENSP00000354305:p.Glu522Lys	NA		37		.	.	.	.	.	.	.	.	.	.	C	16.40	3.113579	0.56398	.	.	ENSG00000158691	ENST00000361028;ENST00000396827	T;T	0.24350	1.86;1.86	3.73	2.84	0.33178	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33059	0.0850	M	0.66560	2.04	0.32789	N	0.50141	D;P	0.76494	0.999;0.953	D;P	0.81914	0.995;0.809	T	0.18555	-1.0333	9	0.62326	D	0.03	.	10.4799	0.44687	0.0:0.8984:0.0:0.1016	.	522;522	A8K187;O43309	.;ZSC12_HUMAN	K	522	ENSP00000354305:E522K;ENSP00000380039:E522K	ENSP00000354305:E522K	E	-	1	0	ZSCAN12	28466482	0.980000	0.34600	0.997000	0.53966	0.985000	0.73830	2.536000	0.45693	0.737000	0.32582	0.650000	0.86243	GAG	ZSCAN12-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000040190.1		-	ENST00000361028.1	Missense_Mutation	SNP	6 : 28358503 - 28358503 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	90	10
ADCY3	109	broad.mit.edu	37	2	25046192	25046192	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25046192T>C	ENST00000405392.1	-	15	1709	c.1530A>G	c.(1528-1530)ggA>ggG	p.G510G	ADCY3_ENST00000260600.5_Silent_p.G923G			O60266	ADCY3_HUMAN	adenylate cyclase 3	923					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CAAACATGACTCCAATCTCAT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	113	125			NA	NA	2		NA											NA				25046192		2203	4300	6503	SO:0001819	synonymous_variant			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	109	109	4.6.1.1	Adenylate cyclases	234	protein-coding gene	gene with protein product		600291			NA	9920776	Standard		NM_004036	NA	Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000405392.1:c.1530A>G	2.37:g.25046192T>C		NA	Q53T54|Q9UDB1	37																																																																																				ADCY3-201	KNOWN	basic|exp_conf	protein_coding	NA	protein_coding			-	ENST00000405392.1	Silent	SNP	2 : 25046192 - 25046192 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	242	22
FSIP2	401024	broad.mit.edu	37	2	186678279	186678279	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:186678279C>T	ENST00000424728.1	+	18	19835	c.19835C>T	c.(19834-19836)gCt>gTt	p.A6612V	FSIP2_ENST00000343098.5_Missense_Mutation_p.A6701V					fibrous sheath interacting protein 2	NA										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CAGGCCGTTGCTAGAAATTCA	0.284		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	29	29			NA	NA	2		NA											NA				186678279		1797	4061	5858	SO:0001583	missense			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738	401024	401024			21675	protein-coding gene	gene with protein product		615796			NA	14702039	Standard	NM_173651	NM_173651	NA	Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.19835C>T	2.37:g.186678279C>T	ENSP00000401306:p.Ala6612Val	NA		37		.	.	.	.	.	.	.	.	.	.	C	10.96	1.498684	0.26861	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.47528	0.84;0.84	5.28	4.4	0.53042	.	0.657980	0.14932	N	0.290028	T	0.38453	0.1041	N	0.22421	0.69	0.18873	N	0.999984	.	.	.	.	.	.	T	0.25047	-1.0143	8	0.29301	T	0.29	.	11.9003	0.52680	0.0:0.1782:0.8218:0.0	.	.	.	.	V	6701;6612	ENSP00000344403:A6701V;ENSP00000401306:A6612V	ENSP00000344403:A6701V	A	+	2	0	FSIP2	186386524	1.000000	0.71417	0.196000	0.23383	0.000000	0.00434	3.393000	0.52544	1.462000	0.47948	-0.280000	0.10049	GCT	FSIP2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000332778.3		+	ENST00000424728.1	Missense_Mutation	SNP	2 : 186678279 - 186678279 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	122	27
ZZEF1	23140	broad.mit.edu	37	17	3977461	3977461	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3977461G>A	ENST00000381638.2	-	24	3792	c.3668C>T	c.(3667-3669)gCg>gTg	p.A1223V		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1223							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGACTTGAGCGCCATGCACTG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	105	106			NA	NA	17		NA											NA				3977461		2203	4300	6503	SO:0001583	missense			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755	23140	23140		Zinc fingers, ZZ-type, EF-hand domain containing	29027	protein-coding gene	gene with protein product			zinc finger, ZZ-type with EF hand domain 1		NA	9455477	Standard	NM_015113	XM_005256560	NA	Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.3668C>T	17.37:g.3977461G>A	ENSP00000371051:p.Ala1223Val	NA	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	34	5.378065	0.95945	.	.	ENSG00000074755	ENST00000381638	T	0.23950	1.88	5.87	5.87	0.94306	.	0.049827	0.85682	D	0.000000	T	0.43122	0.1233	L	0.57536	1.79	0.58432	D	0.999999	D	0.69078	0.997	P	0.53809	0.735	T	0.20405	-1.0276	10	0.66056	D	0.02	-9.3989	20.2191	0.98319	0.0:0.0:1.0:0.0	.	1223	O43149	ZZEF1_HUMAN	V	1223	ENSP00000371051:A1223V	ENSP00000371051:A1223V	A	-	2	0	ZZEF1	3924210	1.000000	0.71417	0.999000	0.59377	0.823000	0.46562	7.516000	0.81772	2.780000	0.95670	0.655000	0.94253	GCG	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207480.1		-	ENST00000381638.2	Missense_Mutation	SNP	17 : 3977461 - 3977461 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	680	155
MRPL48	51642	broad.mit.edu	37	11	73575366	73575366	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73575366G>A	ENST00000411840.2	+	10	920	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	MRPL48_ENST00000535529.1_Missense_Mutation_p.R179Q|MRPL48_ENST00000310614.7_Missense_Mutation_p.R197Q|MRPL48_ENST00000398483.3_Missense_Mutation_p.R98Q|MRPL48_ENST00000542303.1_Missense_Mutation_p.R106Q|MRPL48_ENST00000314282.7_Missense_Mutation_p.R98Q			Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48	197					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			kidney(1)	1						TTCAAGGGACGATTCAAAGCT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	61	63			NA	NA	11		NA											NA				73575366		1868	4112	5980	SO:0001583	missense			AF151876	CCDS44676.1	11q13.4	2012-09-13			ENSG00000175581	ENSG00000175581	51642	51642		Mitochondrial ribosomal proteins / large subunits	16653	protein-coding gene	gene with protein product		611853			NA	10810093	Standard	NM_016055	NM_016055	NA	Approved	CGI-118	uc001ouh.4	Q96GC5	OTTHUMG00000168048	ENST00000411840.2:c.293G>A	11.37:g.73575366G>A	ENSP00000399076:p.Arg98Gln	NA	Q49AK7|Q4U2Q4|Q9P091|Q9Y5J0	37		.	.	.	.	.	.	.	.	.	.	G	35	5.521329	0.96416	.	.	ENSG00000175581	ENST00000310614;ENST00000535529;ENST00000411840;ENST00000398483;ENST00000542303;ENST00000314282	T;T	0.64618	0.05;-0.11	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.81550	0.4846	M	0.83953	2.67	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82768	-0.0294	10	0.72032	D	0.01	-38.8651	18.0523	0.89353	0.0:0.0:1.0:0.0	.	179;197	B4DN34;Q96GC5	.;RM48_HUMAN	Q	197;179;98;98;106;98	ENSP00000308717:R197Q;ENSP00000443685:R106Q	ENSP00000308717:R197Q	R	+	2	0	MRPL48	73253014	1.000000	0.71417	0.999000	0.59377	0.915000	0.54546	7.613000	0.82986	2.937000	0.99478	0.650000	0.86243	CGA	MRPL48-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000397739.1		+	ENST00000411840.2	Missense_Mutation	SNP	11 : 73575366 - 73575366 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	150	23
PBX4	80714	broad.mit.edu	37	19	19675846	19675846	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19675846T>C	ENST00000251203.9	-	6	1107	c.821A>G	c.(820-822)aAg>aGg	p.K274R		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	NA							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						TTCTTGAAACTTCCCCATGTT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													337	342	341			NA	NA	19		NA											NA				19675846		2203	4300	6503	SO:0001583	missense			AJ300182	CCDS12406.1	19p13.11	2014-09-11	2007-01-30		ENSG00000105717		80714	80714		Homeoboxes / TALE class	13403	protein-coding gene	gene with protein product		608127	pre-B-cell leukemia transcription factor 4		NA		Standard		NM_025245	NA	Approved		uc002nmy.3	Q9BYU1	OTTHUMG00000172310	ENST00000251203.9:c.821A>G	19.37:g.19675846T>C	ENSP00000251203:p.Lys274Arg	NA	A5D8Y0|B3KUK9	37	CCDS12406.1	.	.	.	.	.	.	.	.	.	.	t	13.22	2.170696	0.38315	.	.	ENSG00000105717	ENST00000251203	D	0.83591	-1.74	3.85	2.83	0.33086	Homeodomain-related (1);Homeobox (1);	0.063396	0.64402	N	0.000008	D	0.88459	0.6442	M	0.78049	2.395	0.46564	D	0.999109	D	0.63880	0.993	D	0.72625	0.978	D	0.85733	0.1332	10	0.44086	T	0.13	-18.6076	7.4495	0.27229	0.0:0.1075:0.0:0.8925	.	274	Q9BYU1	PBX4_HUMAN	R	274	ENSP00000251203:K274R	ENSP00000251203:K274R	K	-	2	0	PBX4	19536846	1.000000	0.71417	0.998000	0.56505	0.175000	0.22909	3.159000	0.50731	0.566000	0.29273	-0.453000	0.05500	AAG	PBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417784.6		-	ENST00000251203.9	Missense_Mutation	SNP	19 : 19675846 - 19675846 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2186	442
ZKSCAN5	23660	broad.mit.edu	37	7	99103950	99103950	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99103950C>T	ENST00000394170.2	+	2	534	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	ZKSCAN5_ENST00000326775.5_Silent_p.L95L|ZKSCAN5_ENST00000451158.1_Silent_p.L95L	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	95	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GCTGCTGGTGCTGGAGCAGTT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	80	79			NA	NA	7		NA											NA				99103950		2203	4300	6503	SO:0001819	synonymous_variant			AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652	23660	23660		Zinc fingers, C2H2-type, -, -, -	12867	protein-coding gene	gene with protein product		611272	zinc finger protein homologous to Zfp95 in mouse, zinc finger protein 95 homolog (mouse)	ZFP95	NA	10585779	Standard	NM_014569	NM_014569	NA	Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.283C>T	7.37:g.99103950C>T		NA	A4D280|D6W5S9	37	CCDS5667.1																																																																																			ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345597.1		+	ENST00000394170.2	Silent	SNP	7 : 99103950 - 99103950 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	614	114
FAM83B	222584	broad.mit.edu	37	6	54805024	54805024	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54805024C>T	ENST00000306858.7	+	5	1371	c.1255C>T	c.(1255-1257)Cca>Tca	p.P419S		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	419										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTGGAAAAAGCCATCTGATAG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	76	75			NA	NA	6		NA											NA				54805024		2203	4300	6503	SO:0001583	missense			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143	222584	222584			21357	protein-coding gene	gene with protein product			chromosome 6 open reading frame 143	C6orf143	NA	22886302	Standard	XM_294139	NM_001010872	NA	Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1255C>T	6.37:g.54805024C>T	ENSP00000304078:p.Pro419Ser	NA	Q2M1P3|Q96DQ2	37	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.674902	0.29783	.	.	ENSG00000168143	ENST00000306858	T	0.07800	3.16	5.47	3.64	0.41730	.	0.224693	0.40302	N	0.001133	T	0.04998	0.0134	M	0.72118	2.19	0.39476	D	0.967804	B	0.21071	0.051	B	0.14578	0.011	T	0.05784	-1.0864	10	0.72032	D	0.01	-14.0648	10.2045	0.43105	0.1371:0.7924:0.0:0.0705	.	419	Q5T0W9	FA83B_HUMAN	S	419	ENSP00000304078:P419S	ENSP00000304078:P419S	P	+	1	0	FAM83B	54912983	0.998000	0.40836	0.213000	0.23690	0.134000	0.20937	1.064000	0.30579	0.752000	0.32923	0.591000	0.81541	CCA	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040994.1		+	ENST00000306858.7	Missense_Mutation	SNP	6 : 54805024 - 54805024 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	426	18
TRPM6	140803	broad.mit.edu	37	9	77354846	77354846	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77354846C>A	ENST00000360774.1	-	34	5517	c.5280G>T	c.(5278-5280)caG>caT	p.Q1760H	TRPM6_ENST00000449912.2_Missense_Mutation_p.Q1755H|TRPM6_ENST00000376872.3_Missense_Mutation_p.Q715H|TRPM6_ENST00000376871.3_Missense_Mutation_p.Q597H|TRPM6_ENST00000361255.3_Missense_Mutation_p.Q1755H|TRPM6_ENST00000451710.3_Missense_Mutation_p.Q1764H|TRPM6_ENST00000376864.4_Missense_Mutation_p.Q1764H	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1760	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTCTCCCACGCTGAGACCAAG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	79	84			NA	NA	9		NA											NA				77354846		2203	4300	6503	SO:0001583	missense			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121	140803	140803		Voltage-gated ion channels / Transient receptor potential cation channels	17995	protein-coding gene	gene with protein product		607009	hypomagnesemia, secondary hypocalcemia	HOMG, HSH	NA	10021370, 12032570, 16382100	Standard	NM_017662	NM_017662	NA	Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.5280G>T	9.37:g.77354846C>A	ENSP00000354006:p.Gln1760His	NA	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209622	0.79240	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864	T;T;T;T;T;T;T	0.06608	3.28;3.28;3.28;3.28;3.28;3.28;3.28	5.96	5.06	0.68205	MHCK/EF2 kinase (2);Protein kinase-like domain (1);	0.440036	0.27807	N	0.017768	T	0.15825	0.0381	L	0.57536	1.79	0.44985	D	0.998002	B;B;P;D;D;D	0.64830	0.415;0.415;0.886;0.99;0.971;0.994	B;B;B;P;P;P	0.54140	0.106;0.167;0.408;0.558;0.545;0.743	T	0.00045	-1.2216	10	0.56958	D	0.05	.	15.4711	0.75441	0.0:0.9331:0.0:0.0669	.	307;593;711;1760;1755;1755	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.;.;.;TRPM6_HUMAN;.;.	H	1760;1764;715;597;1755;1755;306;1764	ENSP00000354006:Q1760H;ENSP00000407341:Q1764H;ENSP00000366068:Q715H;ENSP00000366067:Q597H;ENSP00000396672:Q1755H;ENSP00000354962:Q1755H;ENSP00000366060:Q1764H	ENSP00000354006:Q1760H	Q	-	3	2	TRPM6	76544666	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	1.496000	0.35638	2.832000	0.97577	0.655000	0.94253	CAG	TRPM6-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052693.1		-	ENST00000360774.1	Missense_Mutation	SNP	9 : 77354846 - 77354846 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	373	64
MUC16	94025	broad.mit.edu	37	19	8997154	8997154	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8997154C>T	ENST00000397910.4	-	60	41245	c.41042G>A	c.(41041-41043)gGc>gAc	p.G13681D	MUC16_ENST00000380951.5_Missense_Mutation_p.G322D	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13683	SEA 11.			Missing (in Ref. 3; AAK74120).	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						GTACAGAGGGCCAACACTGGT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	92	98			NA	NA	19		NA											NA				8997154		1988	4166	6154	SO:0001583	missense			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.41042G>A	19.37:g.8997154C>T	ENSP00000381008:p.Gly13681Asp	NA	Q6ZQW5|Q96RK2	37	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	13.24|13.24	2.178015|2.178015	0.38511|0.38511	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.39592	.|1.07;1.07	2.76|2.76	1.68|1.68	0.24146|0.24146	.|SEA (2);	.|.	.|.	.|.	.|.	T|T	0.64091|0.64091	0.2567|0.2567	M|M	0.88105|0.88105	2.93|2.93	.|.	.|.	.|.	.|D;D	.|0.89917	.|0.997;1.0	.|P;D	.|0.85130	.|0.874;0.997	T|T	0.69383|0.69383	-0.5160|-0.5160	4|8	.|0.54805	.|T	.|0.06	-12.8308|-12.8308	6.5941|6.5941	0.22664|0.22664	0.3266:0.6734:0.0:0.0|0.3266:0.6734:0.0:0.0	.|.	.|21326;13681	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	T|D	521|13681;322	.|ENSP00000381008:G13681D;ENSP00000370338:G322D	.|ENSP00000370338:G322D	A|G	-|-	1|2	0|0	MUC16|MUC16	8858154|8858154	0.073000|0.073000	0.21202|0.21202	0.002000|0.002000	0.10522|0.10522	0.098000|0.098000	0.18820|0.18820	1.582000|1.582000	0.36568|0.36568	0.661000|0.661000	0.30985|0.30985	0.400000|0.400000	0.26472|0.26472	GCC|GGC	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Missense_Mutation	SNP	19 : 8997154 - 8997154 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	322	70
OTUD7A	161725	broad.mit.edu	37	15	31822993	31822993	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31822993G>T	ENST00000307050.4	-	4	661	c.569C>A	c.(568-570)tCc>tAc	p.S190Y	OTUD7A_ENST00000382902.1_Missense_Mutation_p.S190Y	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	190	Catalytic (By similarity).|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GCACACAGTGGACCACCAGTT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	94	99			NA	NA	15		NA											NA				31822993		2201	4300	6501	SO:0001583	missense			AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918	161725	161725		OTU domain containing	20718	protein-coding gene	gene with protein product		612024	chromosome 15 open reading frame 16, OTU domain containing 7, OTU domain containing 7A	C15orf16, OTUD7	NA	23827681	Standard	NM_130901	NM_130901	NA	Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.569C>A	15.37:g.31822993G>T	ENSP00000305926:p.Ser190Tyr	NA	Q8IWK5	37	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433298	0.25813	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.30981	1.52;1.51	6.06	5.15	0.70609	.	0.053150	0.85682	D	0.000000	T	0.31104	0.0786	N	0.21142	0.635	0.48185	D	0.999606	D;P	0.55605	0.972;0.952	P;B	0.50440	0.641;0.438	T	0.04440	-1.0951	10	0.40728	T	0.16	-29.3876	15.4188	0.74995	0.0664:0.0:0.9336:0.0	.	190;190	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	Y	190	ENSP00000305926:S190Y;ENSP00000372358:S190Y	ENSP00000305926:S190Y	S	-	2	0	OTUD7A	29610285	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	8.832000	0.92079	1.579000	0.49836	-0.145000	0.13849	TCC	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251393.2		-	ENST00000307050.4	Missense_Mutation	SNP	15 : 31822993 - 31822993 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	260	12
DNAH9	1770	broad.mit.edu	37	17	11532779	11532779	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11532779G>T	ENST00000454412.2	+	7	1396	c.1396G>T	c.(1396-1398)Gag>Tag	p.E466*	DNAH9_ENST00000262442.4_Nonsense_Mutation_p.E466*			Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	466	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGGAAAGGTGGAGTTCAGCGG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	95	96			NA	NA	17		NA											NA				11532779		2203	4300	6503	SO:0001587	stop_gained			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174	1770	1770		Axonemal dyneins	2953	protein-coding gene	gene with protein product		603330	dynein, axonemal, heavy polypeptide 17-like, dynein, axonemal, heavy polypeptide 9	DNAH17L	NA	8812413, 11247663	Standard	NM_001372	NM_001372	NA	Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000454412.2:c.1396G>T	17.37:g.11532779G>T	ENSP00000414874:p.Glu466*	NA	O15064|O95494|Q9NQ28	37		.	.	.	.	.	.	.	.	.	.	G	25.2	4.614268	0.87359	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	.	.	.	5.61	5.61	0.85477	.	0.142017	0.48767	D	0.000180	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	17.4109	0.87485	0.0:0.0:1.0:0.0	.	.	.	.	X	466	.	ENSP00000262442:E466X	E	+	1	0	DNAH9	11473504	1.000000	0.71417	1.000000	0.80357	0.172000	0.22775	7.748000	0.85085	2.657000	0.90304	0.655000	0.94253	GAG	DNAH9-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000252758.4		+	ENST00000454412.2	Nonsense_Mutation	SNP	17 : 11532779 - 11532779 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	471	66
C3orf58	205428	broad.mit.edu	37	3	143704586	143704586	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:143704586G>A	ENST00000495414.1	+	2	684	c.232G>A	c.(232-234)Gac>Aac	p.D78N	C3orf58_ENST00000441925.2_Missense_Mutation_p.D49N|C3orf58_ENST00000315691.3_Missense_Mutation_p.D287N|C3orf58_ENST00000493396.1_Intron	NM_001134470.1	NP_001127942.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	287						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTACCTCCTGGACGTCAGCTT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	151	156			NA	NA	3		NA											NA				143704586		2203	4300	6503	SO:0001583	missense			AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744	205428	205428			28490	protein-coding gene	gene with protein product	deleted in autism 1, hypoxia and Akt induced stem cell factor	612200			NA	21283809, 23784961, 24269490	Standard	NM_173552	NM_173552	NA	Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000495414.1:c.232G>A	3.37:g.143704586G>A	ENSP00000417382:p.Asp78Asn	NA	B2RCF2	37	CCDS46929.1	.	.	.	.	.	.	.	.	.	.	G	33	5.281599	0.95489	.	.	ENSG00000181744	ENST00000315691;ENST00000495414;ENST00000492452;ENST00000441925	T	0.55052	0.54	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.74450	0.3718	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.981	T	0.78130	-0.2324	10	0.72032	D	0.01	.	18.5536	0.91075	0.0:0.0:1.0:0.0	.	78;287	B7Z1W3;Q8NDZ4	.;CC058_HUMAN	N	287;78;93;49	ENSP00000320081:D287N	ENSP00000320081:D287N	D	+	1	0	C3orf58	145187276	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.392000	0.81423	0.563000	0.77884	GAC	C3orf58-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355039.1		+	ENST00000495414.1	Missense_Mutation	SNP	3 : 143704586 - 143704586 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	989	89
FOXB1	27023	broad.mit.edu	37	15	60297560	60297560	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:60297560C>T	ENST00000396057.4	+	2	877	c.398C>T	c.(397-399)gCc>gTc	p.A133V	FOXB1_ENST00000560857.1_Intron	NM_012182.2	NP_036314.2	Q99853	FOXB1_HUMAN	forkhead box B1	133					axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning	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			central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)	6						CAGCAGCAGGCCAAGCTGCGG	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													7	8	7			NA	NA	15		NA											NA				60297560		2055	4057	6112	SO:0001583	missense			AF055080	CCDS32255.1	15q22.2	2014-09-09			ENSG00000171956	ENSG00000171956	27023	27023		Forkhead boxes	3799	protein-coding gene	gene with protein product					NA		Standard		NM_012182	NA	Approved	HFKH-5, FKH5	uc002agj.1	Q99853	OTTHUMG00000172011	ENST00000396057.4:c.398C>T	15.37:g.60297560C>T	ENSP00000379369:p.Ala133Val	NA	O60652|O75917|Q14CL2	37	CCDS32255.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846310	0.71603	.	.	ENSG00000171956	ENST00000396057	D	0.96300	-3.97	4.11	4.11	0.48088	.	0.273372	0.31370	U	0.007767	D	0.94218	0.8144	L	0.55481	1.735	0.58432	D	0.999999	B	0.26744	0.158	B	0.26864	0.074	D	0.92964	0.6391	10	0.38643	T	0.18	.	15.073	0.72053	0.0:1.0:0.0:0.0	.	133	Q99853	FOXB1_HUMAN	V	133	ENSP00000379369:A133V	ENSP00000379369:A133V	A	+	2	0	FOXB1	58084852	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.622000	0.46427	2.091000	0.63221	0.650000	0.86243	GCC	FOXB1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416378.1		+	ENST00000396057.4	Missense_Mutation	SNP	15 : 60297560 - 60297560 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	132	24
PCDHA5	56143	broad.mit.edu	37	5	140203604	140203604	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140203604G>A	ENST00000529859.1	+	1	2244	c.2244G>A	c.(2242-2244)tcG>tcA	p.S748S	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.S748S|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.S748S	NM_018908.2	NP_061731.1			protocadherin alpha 5	NA								p.S748S(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTGGTCGTACTCGCAGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - coding silent(2)	lung(2)											72	65	67			NA	NA	5		NA											NA				140203604		2203	4300	6503	SO:0001819	synonymous_variant			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965	56143	56143		Cadherins / Protocadherins : Clustered	8671	other	complex locus constituent	ortholog of mouse CNR6, KIAA0345-like 9	606311		CNRS6	NA	10380929, 10662547	Standard	NM_018908	NM_018908	NA	Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.2244G>A	5.37:g.140203604G>A		NA		37	CCDS54917.1																																																																																			PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372883.2		+	ENST00000529859.1	Silent	SNP	5 : 140203604 - 140203604 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	341	69
OSBPL1A	114876	broad.mit.edu	37	18	21758017	21758017	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21758017C>A	ENST00000319481.3	-	21	2259	c.2053G>T	c.(2053-2055)Gaa>Taa	p.E685*	OSBPL1A_ENST00000357041.4_Nonsense_Mutation_p.E303*|OSBPL1A_ENST00000399443.3_Nonsense_Mutation_p.E172*	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	685					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					GGTTCTGCTTCTACACTCTTC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	124	130			NA	NA	18		NA											NA				21758017		2203	4300	6503	SO:0001587	stop_gained			AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447	114876	114876		Oxysterol binding proteins, Ankyrin repeat domain containing	16398	protein-coding gene	gene with protein product		606730	oxysterol binding protein-like 1B	OSBPL1B	NA	11279184, 10588946	Standard	NM_080597	NM_080597	NA	Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.2053G>T	18.37:g.21758017C>A	ENSP00000320291:p.Glu685*	NA	Q9BZF5|Q9NW87	37	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	C	43	9.889204	0.99288	.	.	ENSG00000141447	ENST00000319481;ENST00000399443;ENST00000357041	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-29.2574	19.9857	0.97347	0.0:1.0:0.0:0.0	.	.	.	.	X	685;172;303	.	ENSP00000320291:E685X	E	-	1	0	OSBPL1A	20012015	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	6.081000	0.71309	2.724000	0.93272	0.655000	0.94253	GAA	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254902.1		-	ENST00000319481.3	Nonsense_Mutation	SNP	18 : 21758017 - 21758017 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	427	81
DMTF1	9988	broad.mit.edu	37	7	86817581	86817581	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86817581G>A	ENST00000394703.5	+	15	1938	c.1375G>A	c.(1375-1377)Gca>Aca	p.A459T	DMTF1_ENST00000414194.2_Missense_Mutation_p.A193T|DMTF1_ENST00000432937.2_Missense_Mutation_p.A371T|DMTF1_ENST00000331242.7_Missense_Mutation_p.A459T|DMTF1_ENST00000413276.2_Intron	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	459	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for transcriptional activation (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					TAGCCCCATGGCAGCATTGCA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	162	164			NA	NA	7		NA											NA				86817581		2203	4300	6503	SO:0001583	missense			AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164	9988	9988			14603	protein-coding gene	gene with protein product	cyclin D-binding Myb-like protein	608491			NA	10095122, 24958102	Standard	NM_021145	NR_024549	NA	Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.1375G>A	7.37:g.86817581G>A	ENSP00000378193:p.Ala459Thr	NA	B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	37	CCDS5601.1	.	.	.	.	.	.	.	.	.	.	G	5.369	0.253310	0.10185	.	.	ENSG00000135164	ENST00000331242;ENST00000432937;ENST00000394703;ENST00000414194	T;T;T;T	0.44881	0.94;0.94;0.94;0.91	5.57	-3.61	0.04556	.	0.626890	0.18356	N	0.143710	T	0.17280	0.0415	N	0.03608	-0.345	0.41702	D	0.989404	B	0.02656	0.0	B	0.01281	0.0	T	0.26189	-1.0110	10	0.09590	T	0.72	-0.0915	16.8454	0.85979	0.3261:0.0:0.6739:0.0	.	459	Q9Y222	DMTF1_HUMAN	T	459;371;459;193	ENSP00000332171:A459T;ENSP00000412532:A371T;ENSP00000378193:A459T;ENSP00000415910:A193T	ENSP00000332171:A459T	A	+	1	0	DMTF1	86655517	0.995000	0.38212	0.961000	0.40146	0.950000	0.60333	0.446000	0.21694	-0.838000	0.04218	-0.345000	0.07892	GCA	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334025.5		+	ENST00000394703.5	Missense_Mutation	SNP	7 : 86817581 - 86817581 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	887	189
KRT3	3850	broad.mit.edu	37	12	53186985	53186985	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53186985G>A	ENST00000417996.2	-	3	963	c.889C>T	c.(889-891)Cgt>Tgt	p.R297C	KRT3_ENST00000309505.3_Missense_Mutation_p.R297C	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	297	Coil 1B.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GCAGCTGTACGTTTATTGATT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	121	120			NA	NA	12		NA											NA				53186985		2124	4286	6410	SO:0001583	missense				CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442	3850	3850		-, Intermediate filaments type II, keratins (basic)	6440	protein-coding gene	gene with protein product	keratin, type II cytoskeletal 3, cytokeratin 3	148043			NA	7510223, 16831889	Standard	NM_057088	NM_057088	NA	Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.889C>T	12.37:g.53186985G>A	ENSP00000413479:p.Arg297Cys	NA	A6NIS2|Q701L8	37	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854991	0.71719	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.90069	-2.61;-2.61	4.59	4.59	0.56863	Filament (1);	0.142736	0.32769	N	0.005676	D	0.94647	0.8274	M	0.91768	3.24	0.48511	D	0.999661	D	0.67145	0.996	P	0.59115	0.852	D	0.95900	0.8914	10	0.87932	D	0	.	15.9243	0.79603	0.0:0.0:1.0:0.0	.	297	P12035	K2C3_HUMAN	C	297	ENSP00000413479:R297C;ENSP00000312206:R297C	ENSP00000312206:R297C	R	-	1	0	KRT3	51473252	0.848000	0.29623	0.998000	0.56505	0.982000	0.71751	2.361000	0.44160	2.263000	0.75096	0.561000	0.74099	CGT	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405930.1		-	ENST00000417996.2	Missense_Mutation	SNP	12 : 53186985 - 53186985 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	83	19
SFT2D2	375035	broad.mit.edu	37	1	168211761	168211761	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:168211761G>A	ENST00000271375.4	+	8	538	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	SFT2D2_ENST00000367825.3_3'UTR	NM_199344.2	NP_955376.1	O95562	SFT2B_HUMAN	SFT2 domain containing 2	NA					protein transport|vesicle-mediated transport	integral to membrane				lung(3)|skin(1)	4	all_hematologic(923;0.215)					GAAGTGTTTTGCCGTGTGTCT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													361	301	321			NA	NA	1		NA											NA				168211761		2203	4300	6503	SO:0001583	missense			AL035297	CCDS1271.1	1q24.2	2008-02-05			ENSG00000213064	ENSG00000213064	375035	375035			25140	protein-coding gene	gene with protein product					NA		Standard	NM_199344	NM_199344	NA	Approved	UNQ512, dJ747L4.C1.2	uc001gfi.4	O95562	OTTHUMG00000034650	ENST00000271375.4:c.466G>A	1.37:g.168211761G>A	ENSP00000271375:p.Ala156Thr	NA	A8K2R0|Q6UWR8	37	CCDS1271.1	.	.	.	.	.	.	.	.	.	.	G	9.461	1.093188	0.20471	.	.	ENSG00000213064	ENST00000271375	T	0.42131	0.98	4.97	-3.81	0.04294	.	0.154571	0.43747	U	0.000539	T	0.03477	0.0100	N	0.01297	-0.9	0.29400	N	0.8620140000000001	B	0.02656	0.0	B	0.09377	0.004	T	0.36529	-0.9744	9	0.19590	T	0.45	-18.5149	7.1524	0.25618	0.6044:0.0:0.2632:0.1324	.	156	O95562	SFT2B_HUMAN	T	156	ENSP00000271375:A156T	ENSP00000271375:A156T	A	+	1	0	SFT2D2	166478385	0.000000	0.05858	0.004000	0.12327	0.608000	0.37181	-0.525000	0.06214	-0.719000	0.04942	0.650000	0.86243	GCC	SFT2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083827.2		+	ENST00000271375.4	Missense_Mutation	SNP	1 : 168211761 - 168211761 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1052	175
TEX15	56154	broad.mit.edu	37	8	30695464	30695464	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30695464C>A	ENST00000256246.2	-	3	7261	c.7187G>T	c.(7186-7188)gGc>gTc	p.G2396V		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2396										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TAAAAGTGAGCCAGGTAGTGA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													216	215	215			NA	NA	8		NA											NA				30695464		2203	4300	6503	SO:0001583	missense			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863	56154	56154			11738	protein-coding gene	gene with protein product	cancer/testis antigen 42	605795	testis expressed sequence 15		NA	11279525	Standard		NM_031271	NA	Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7187G>T	8.37:g.30695464C>A	ENSP00000256246:p.Gly2396Val	NA		37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.396149	0.62177	.	.	ENSG00000133863	ENST00000256246	T	0.12774	2.65	4.4	-3.86	0.04230	.	1.595900	0.03684	N	0.245973	T	0.10937	0.0267	L	0.44542	1.39	0.22858	N	0.998647	B	0.26809	0.16	B	0.25291	0.059	T	0.30446	-0.9978	10	0.87932	D	0	.	1.8012	0.03071	0.1337:0.3029:0.1313:0.4321	.	2396	Q9BXT5	TEX15_HUMAN	V	2396	ENSP00000256246:G2396V	ENSP00000256246:G2396V	G	-	2	0	TEX15	30815006	0.000000	0.05858	0.001000	0.08648	0.533000	0.34776	-1.045000	0.03528	-1.018000	0.03363	0.462000	0.41574	GGC	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376193.1		-	ENST00000256246.2	Missense_Mutation	SNP	8 : 30695464 - 30695464 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1300	244
OR2AG2	338755	broad.mit.edu	37	11	6790159	6790159	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6790159G>A	ENST00000338569.2	-	1	127	c.30C>T	c.(28-30)agC>agT	p.S10S		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S10S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGATGAAGCCGCTTCCCAAGG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	endometrium(1)											77	77	77			NA	NA	11		NA											NA				6790159		2201	4296	6497	SO:0001819	synonymous_variant			AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124	338755	338755		GPCR / Class A : Olfactory receptors	15143	protein-coding gene	gene with protein product				OR2AG2P	NA		Standard	NM_001004490	NM_001004490	NA	Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.30C>T	11.37:g.6790159G>A		NA		37	CCDS31413.1																																																																																			OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386775.1		-	ENST00000338569.2	Silent	SNP	11 : 6790159 - 6790159 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	319	16
STAM	8027	broad.mit.edu	37	10	17730057	17730057	+	Missense_Mutation	SNP	C	C	T	rs142836471		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17730057C>T	ENST00000377524.3	+	5	544	c.329C>T	c.(328-330)gCt>gTt	p.A110V	STAM_ENST00000540523.1_5'UTR	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	110	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						AAATTAAAGGCTCTTATGGTT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	VAL/ALA	0,4406		0,0,2203	101	108	105		329	5.8	1	10	dbSNP_134	105	1,8599	1.2+/-3.3	0,1,4299	no	missense	STAM	NM_003473.3	64	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	possibly-damaging	110/541	17730057	1,13005	2203	4300	6503	SO:0001583	missense			U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738	8027	8027			11357	protein-coding gene	gene with protein product	HSE1 homolog (S. cerevisiae)	601899			NA	8780729	Standard	NM_003473	NM_003473	NA	Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.329C>T	10.37:g.17730057C>T	ENSP00000366746:p.Ala110Val	NA	B0YJ99|D3DRU5|Q8N6D9	37	CCDS7122.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474386	0.84640	0.0	1.16E-4	ENSG00000136738	ENST00000377524;ENST00000445846;ENST00000377500	T	0.23147	1.92	5.83	5.83	0.93111	VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.102265	0.64402	D	0.000002	T	0.34978	0.0916	L	0.41710	1.295	0.80722	D	1	D	0.59357	0.985	P	0.51297	0.665	T	0.00708	-1.1600	10	0.34782	T	0.22	-23.4298	20.1133	0.97917	0.0:1.0:0.0:0.0	.	110	Q92783	STAM1_HUMAN	V	110;60;13	ENSP00000366746:A110V	ENSP00000366721:A13V	A	+	2	0	STAM	17770063	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.762000	0.85270	2.762000	0.94881	0.591000	0.81541	GCT	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047039.1		+	ENST00000377524.3	Missense_Mutation	SNP	10 : 17730057 - 17730057 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	567	94
OBSCN	84033	broad.mit.edu	37	1	228511297	228511297	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228511297C>T	ENST00000570156.2	+	67	18587	c.18513C>T	c.(18511-18513)ctC>ctT	p.L6171L	OBSCN_ENST00000366709.4_Silent_p.L2333L|OBSCN_ENST00000422127.1_Silent_p.L5214L|OBSCN_ENST00000366707.4_Silent_p.L2848L|OBSCN_ENST00000284548.11_Silent_p.L5214L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5214	Ig-like 53.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGCTGAGCTCCGTGTGGACT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	65	64			NA	NA	1		NA											NA				228511297		2166	4269	6435	SO:0001819	synonymous_variant			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358	84033	84033		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	15719	protein-coding gene	gene with protein product		608616			NA	11448995, 11814696	Standard	NM_052843	NM_001098623	NA	Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000570156.2:c.18513C>T	1.37:g.228511297C>T		NA	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	37	CCDS59204.1																																																																																			OBSCN-011	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421354.3		+	ENST00000570156.2	Silent	SNP	1 : 228511297 - 228511297 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	104	18
CATSPER4	378807	broad.mit.edu	37	1	26524884	26524884	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26524884C>A	ENST00000456354.2	+	6	853	c.786C>A	c.(784-786)ggC>ggA	p.G262G		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	262					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CCCAGGACGGCTGGGTGGACA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	116	118			NA	NA	1		NA											NA				26524884		2203	4300	6503	SO:0001819	synonymous_variant			BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782	378807	378807		Voltage-gated ion channels / Cation channels, sperm associated	23220	protein-coding gene	gene with protein product		609121			NA	12932298, 17227845, 16382101	Standard	NM_198137	NM_198137	NA	Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.786C>A	1.37:g.26524884C>A		NA	A1A4W6|Q5VY71	37	CCDS30645.1																																																																																			CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019849.2		+	ENST00000456354.2	Silent	SNP	1 : 26524884 - 26524884 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	655	24
EXO1	9156	broad.mit.edu	37	1	242030154	242030154	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242030154G>A	ENST00000366548.3	+	11	1657	c.1064G>A	c.(1063-1065)aGt>aAt	p.S355N	EXO1_ENST00000518483.1_Missense_Mutation_p.S355N|EXO1_ENST00000348581.5_Missense_Mutation_p.S355N	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	355	Interaction with MSH3.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AGAAGTCATAGTTGGGATGAC	0.368		NA						Editing and processing nucleases						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	103	105			NA	NA	1		NA											NA				242030154		2203	4300	6503	SO:0001583	missense			AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371	9156	9156			3511	protein-coding gene	gene with protein product	rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1	606063			NA	9685493, 9788596	Standard	NM_006027	NM_003686	NA	Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.1064G>A	1.37:g.242030154G>A	ENSP00000355506:p.Ser355Asn	NA	O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	37	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	G	8.346	0.829897	0.16749	.	.	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483	T;T;T	0.38401	1.2;1.2;1.14	5.75	4.83	0.62350	-3&apos (1); exonuclease, C-terminal domain (1);5&apos (1);	0.372294	0.35525	N	0.003144	T	0.38852	0.1056	M	0.73598	2.24	0.40987	D	0.984825	B;B;B	0.16166	0.009;0.016;0.009	B;B;B	0.16722	0.007;0.016;0.006	T	0.25710	-1.0124	10	0.24483	T	0.36	0.0	12.9676	0.58494	0.0761:0.0:0.9239:0.0	.	355;355;355	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	N	355	ENSP00000355506:S355N;ENSP00000311873:S355N;ENSP00000430251:S355N	ENSP00000311873:S355N	S	+	2	0	EXO1	240096777	1.000000	0.71417	0.979000	0.43373	0.370000	0.29829	3.600000	0.54052	1.429000	0.47314	0.655000	0.94253	AGT	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096405.1		+	ENST00000366548.3	Missense_Mutation	SNP	1 : 242030154 - 242030154 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	507	128
SAAL1	113174	broad.mit.edu	37	11	18111740	18111740	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18111740T>C	ENST00000300013.4	-	6	611	c.571A>G	c.(571-573)Atg>Gtg	p.M191V	SAAL1_ENST00000524803.1_Missense_Mutation_p.M191V|SAAL1_ENST00000529318.1_Missense_Mutation_p.M191V|SAAL1_ENST00000533851.1_5'UTR	NM_138421.2	NP_612430.2	Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	191					acute-phase response	extracellular region	binding			breast(2)|large_intestine(5)|lung(8)	15						GAACTTGACATAATGAAGCAA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	46	47			NA	NA	11		NA											NA				18111740		2200	4293	6493	SO:0001583	missense			AK123457	CCDS31439.1	11p15.1	2005-10-28			ENSG00000166788	ENSG00000166788	113174	113174			25158	protein-coding gene	gene with protein product					NA		Standard	NM_138421	NM_138421	NA	Approved	FLJ41463	uc001mnq.3	Q96ER3	OTTHUMG00000166428	ENST00000300013.4:c.571A>G	11.37:g.18111740T>C	ENSP00000300013:p.Met191Val	NA	A6NH05	37		.	.	.	.	.	.	.	.	.	.	T	17.66	3.445277	0.63178	.	.	ENSG00000166788	ENST00000524803;ENST00000300013;ENST00000530436;ENST00000531751;ENST00000529318;ENST00000530180	T;T;T;T;T;T	0.50813	1.36;0.73;1.3;0.84;0.73;1.3	5.78	4.62	0.57501	Armadillo-like helical (1);Armadillo-type fold (1);	0.081223	0.85682	D	0.000000	T	0.55847	0.1946	M	0.63843	1.955	0.42764	D	0.993818	D;D;D	0.55385	0.971;0.971;0.971	P;P;P	0.53062	0.717;0.717;0.717	T	0.59247	-0.7490	10	0.72032	D	0.01	-13.3883	10.8183	0.46589	0.141:0.0:0.0:0.859	.	191;191;191	E9PRZ1;G1UCX3;Q96ER3	.;.;SAAL1_HUMAN	V	191;191;28;80;191;180	ENSP00000432487:M191V;ENSP00000300013:M191V;ENSP00000432044:M28V;ENSP00000436031:M80V;ENSP00000432216:M191V;ENSP00000431489:M180V	ENSP00000300013:M191V	M	-	1	0	SAAL1	18068316	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.326000	0.65875	0.963000	0.38082	0.519000	0.50382	ATG	SAAL1-003	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000389729.1		-	ENST00000300013.4	Missense_Mutation	SNP	11 : 18111740 - 18111740 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	241	12
LAMA4	3910	broad.mit.edu	37	6	112454579	112454579	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112454579A>G	ENST00000230538.7	-	27	4065	c.3668T>C	c.(3667-3669)gTt>gCt	p.V1223A	LAMA4_ENST00000424408.2_Missense_Mutation_p.V1216A|LAMA4_ENST00000522006.1_Missense_Mutation_p.V1216A|LAMA4_ENST00000389463.4_Missense_Mutation_p.V1216A	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1223	Laminin G-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCCATAACCAACTCCCAGGGT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	129	129			NA	NA	6		NA											NA				112454579		2203	4300	6503	SO:0001583	missense				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769	3910	3910		Laminins	6484	protein-coding gene	gene with protein product		600133			NA	7959779	Standard	NM_001105206	NM_001105206	NA	Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.3668T>C	6.37:g.112454579A>G	ENSP00000230538:p.Val1223Ala	NA	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	37	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.796977	0.70567	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.89	5.89	0.94794	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.156231	0.56097	D	0.000034	T	0.74268	0.3694	L	0.38175	1.15	0.80722	D	1	P;P	0.41131	0.622;0.739	B;B	0.43251	0.235;0.413	T	0.80082	-0.1531	10	0.87932	D	0	.	16.3127	0.82898	1.0:0.0:0.0:0.0	.	1223;1216	Q16363;Q16363-2	LAMA4_HUMAN;.	A	1223;1216;1216;1216	ENSP00000230538:V1223A;ENSP00000429488:V1216A;ENSP00000374114:V1216A;ENSP00000416470:V1216A	ENSP00000230538:V1223A	V	-	2	0	LAMA4	112561272	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.932000	0.92897	2.246000	0.74042	0.533000	0.62120	GTT	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041876.2		-	ENST00000230538.7	Missense_Mutation	SNP	6 : 112454579 - 112454579 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	755	106
PTPRB	5787	broad.mit.edu	37	12	70986112	70986112	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70986112C>A	ENST00000550358.1	-	7	1755	c.1730G>T	c.(1729-1731)aGc>aTc	p.S577I	PTPRB_ENST00000551525.1_Missense_Mutation_p.S576I|PTPRB_ENST00000538708.1_Missense_Mutation_p.S359I|PTPRB_ENST00000451516.2_Missense_Mutation_p.S359I|PTPRB_ENST00000334414.6_Missense_Mutation_p.S577I|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000261266.5_Missense_Mutation_p.S359I|PTPRB_ENST00000550857.1_Missense_Mutation_p.S359I			P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	449	Fibronectin type-III 7.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGAGACACAGCTGACAGTAAC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	97	98			NA	NA	12		NA											NA				70986112		1963	4151	6114	SO:0001583	missense			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11					NA	5787		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing	9665	protein-coding gene	gene with protein product		176882		PTPB	NA	2169617	Standard		NM_001109754	NA	Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000550358.1:c.1730G>T	12.37:g.70986112C>A	ENSP00000448058:p.Ser577Ile	NA	B7ZKT0|C9JX87|Q14D85|Q3MIV7	37		.	.	.	.	.	.	.	.	.	.	C	14.68	2.608439	0.46527	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45	5.75	2.7	0.31948	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.549706	0.21306	N	0.076726	T	0.58452	0.2123	L	0.43646	1.37	0.20975	N	0.999811	P;P;P;D;P;P;P;P	0.63880	0.567;0.567;0.666;0.993;0.7;0.567;0.621;0.658	P;P;P;P;P;P;P;P	0.62740	0.481;0.481;0.772;0.906;0.586;0.481;0.493;0.578	T	0.51293	-0.8724	10	0.22109	T	0.4	.	12.6582	0.56799	0.0:0.7041:0.2297:0.0662	.	359;359;456;577;576;577;359;577	P23467-2;F5H3G6;Q6ZR19;Q6ZTX7;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;.;PTPRB_HUMAN;.	I	577;359;577;577;359;359;359;576;456	ENSP00000334928:S577I;ENSP00000393028:S359I;ENSP00000448058:S577I;ENSP00000438927:S359I;ENSP00000447302:S359I;ENSP00000261266:S359I;ENSP00000448349:S576I;ENSP00000446982:S456I	ENSP00000261266:S359I	S	-	2	0	PTPRB	69272379	1.000000	0.71417	0.987000	0.45799	0.995000	0.86356	2.376000	0.44292	0.771000	0.33359	0.655000	0.94253	AGC	PTPRB-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000404436.1		-	ENST00000550358.1	Missense_Mutation	SNP	12 : 70986112 - 70986112 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	447	72
AZI1	0	broad.mit.edu	37	17	79181033	79181033	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79181033C>T	ENST00000269392.4	-	4	526	c.279G>A	c.(277-279)acG>acA	p.T93T	AZI1_ENST00000374782.3_Silent_p.T93T|AZI1_ENST00000450824.2_Silent_p.T93T|AZI1_ENST00000575907.1_Silent_p.T93T	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN		93					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CTGTGGGCTCCGTTGGCCTGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	47	48			NA	NA	17		NA											NA				79181033		2203	4300	6503	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000269392.4:c.279G>A	17.37:g.79181033C>T		NA	A6NHI8|B2RN11|Q96F50	37																																																																																				AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000256070.1		-	ENST00000269392.4	Silent	SNP	17 : 79181033 - 79181033 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	43
RTN2	6253	broad.mit.edu	37	19	45991740	45991740	+	Missense_Mutation	SNP	G	G	A	rs140876163	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45991740G>A	ENST00000590526.1	-	9	1790	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	RTN2_ENST00000430715.2_Missense_Mutation_p.R156W|RTN2_ENST00000245923.4_Missense_Mutation_p.R496W|RTN2_ENST00000344680.4_Missense_Mutation_p.R423W			O75298	RTN2_HUMAN	reticulon 2	496						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TGGTGCTGCCGGTACAGCAGG	0.567		NA											G	1	5e-04	NA	NA	2184	NA	0.9999	,	,	NA	3e-04	0.0013	NA	NA	4e-04	0.8551	EXOME	NA	NA	9e-04	SNP								NA				0													105	100	101			NA	NA	19		NA											NA				45991740		2203	4300	6503	SO:0001583	missense			AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744	6253	6253			10468	protein-coding gene	gene with protein product	NSP-like protein 1, Neuroendocrine-specific protein-like 1	603183	spastic paraplegia 12 (autosomal dominant)	SPG12	NA	8812484, 9530622, 22232211	Standard	NM_005619	NM_005619	NA	Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000590526.1:c.664C>T	19.37:g.45991740G>A	ENSP00000466619:p.Arg222Trp	NA	O60509|Q7RTM6|Q7RTN1|Q7RTN2	37		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.65	3.866636	0.72065	.	.	ENSG00000125744	ENST00000344680;ENST00000245923;ENST00000430715	T;T;T	0.43688	0.94;0.94;0.94	5.58	3.28	0.37604	.	0.243600	0.34411	N	0.003995	T	0.48768	0.1518	L	0.29908	0.895	0.30776	N	0.742524	D;D	0.89917	1.0;1.0	D;D	0.78314	0.985;0.991	T	0.52351	-0.8587	10	0.87932	D	0	-11.9043	10.3065	0.43683	0.0:0.0:0.6272:0.3728	.	423;496	O75298-2;O75298	.;RTN2_HUMAN	W	423;496;156	ENSP00000345127:R423W;ENSP00000245923:R496W;ENSP00000398178:R156W	ENSP00000245923:R496W	R	-	1	2	RTN2	50683580	0.998000	0.40836	0.993000	0.49108	0.990000	0.78478	0.669000	0.25142	1.314000	0.45095	0.650000	0.86243	CGG	RTN2-005	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000459577.1		-	ENST00000590526.1	Missense_Mutation	SNP	19 : 45991740 - 45991740 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	481	88
B4GALNT4	338707	broad.mit.edu	37	11	377297	377297	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:377297A>G	ENST00000329962.6	+	14	2174	c.2174A>G	c.(2173-2175)tAc>tGc	p.Y725C		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	725						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCGCTCAGTACATGGAGCGG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	9	11			NA	NA	11		NA											NA				377297		2041	4043	6084	SO:0001583	missense			AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	338707	338707	2.4.1.-	Beta 4-glycosyltransferases	26315	protein-coding gene	gene with protein product					NA	15044014	Standard	NM_178537	NM_178537	NA	Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.2174A>G	11.37:g.377297A>G	ENSP00000328277:p.Tyr725Cys	NA	Q96LV2	37	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	a	12.79	2.044333	0.36085	.	.	ENSG00000182272	ENST00000329962	T	0.15139	2.45	3.28	3.28	0.37604	.	0.081321	0.51477	D	0.000094	T	0.37376	0.1001	M	0.68952	2.095	0.41763	D	0.98972	D	0.76494	0.999	D	0.81914	0.995	T	0.28744	-1.0034	10	0.72032	D	0.01	-27.5924	12.0889	0.53713	1.0:0.0:0.0:0.0	.	725	Q76KP1	B4GN4_HUMAN	C	725	ENSP00000328277:Y725C	ENSP00000328277:Y725C	Y	+	2	0	B4GALNT4	367297	1.000000	0.71417	1.000000	0.80357	0.103000	0.19146	3.606000	0.54095	1.508000	0.48769	0.172000	0.16884	TAC	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239289.2		+	ENST00000329962.6	Missense_Mutation	SNP	11 : 377297 - 377297 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	71	12
C2orf16	84226	broad.mit.edu	37	2	27802900	27802900	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27802900G>A	ENST00000408964.2	+	1	3512	c.3461G>A	c.(3460-3462)cGc>cAc	p.R1154H		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1154										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CACCTTGTACGCACTCCTGAA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	95	95			NA	NA	2		NA											NA				27802900		2006	4187	6193	SO:0001583	missense			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843	84226	84226			25275	protein-coding gene	gene with protein product	P-S-E-R-S-H-H-S repeats containing				NA		Standard	NM_032266	NM_032266	NA	Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.3461G>A	2.37:g.27802900G>A	ENSP00000386190:p.Arg1154His	NA	B9EIQ4|Q53S01|Q8ND64|Q9H088	37	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395537	0.62066	.	.	ENSG00000221843	ENST00000408964	T	0.05717	3.4	5.19	3.37	0.38596	.	.	.	.	.	T	0.03305	0.0096	N	0.14661	0.345	0.22779	N	0.998746	P	0.38110	0.618	B	0.27380	0.079	T	0.40646	-0.9552	9	0.54805	T	0.06	.	6.8869	0.24208	0.2046:0.0:0.7954:0.0	.	1154	Q68DN1	CB016_HUMAN	H	1154	ENSP00000386190:R1154H	ENSP00000386190:R1154H	R	+	2	0	C2orf16	27656404	0.998000	0.40836	1.000000	0.80357	0.708000	0.40852	1.947000	0.40293	1.177000	0.42855	0.467000	0.42956	CGC	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353292.1		+	ENST00000408964.2	Missense_Mutation	SNP	2 : 27802900 - 27802900 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	721	207
MAGI1	9223	broad.mit.edu	37	3	65415781	65415781	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:65415781A>C	ENST00000497477.2	-	12	1580	c.1581T>G	c.(1579-1581)gtT>gtG	p.V527V	MAGI1_ENST00000483466.1_Silent_p.V527V|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Silent_p.V527V|MAGI1_ENST00000330909.8_Silent_p.V527V			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	527	PDZ 2.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TGTGTCCCAAAACACAGGTGT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	69	74			NA	NA	3		NA											NA				65415781		2203	4300	6503	SO:0001819	synonymous_variant			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276	9223	9223			946	protein-coding gene	gene with protein product		602625	BAI1-associated protein 1	BAIAP1	NA	9647739, 9225980	Standard	NM_004742	XM_005265563	NA	Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1581T>G	3.37:g.65415781A>C		NA	O00309|O43863|O75085|Q96QZ8|Q96QZ9	37		.	.	.	.	.	.	.	.	.	.	A	9.836	1.189706	0.21954	.	.	ENSG00000151276	ENST00000460329	.	.	.	5.92	0.898	0.19264	.	.	.	.	.	T	0.53997	0.1831	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43228	-0.9404	4	.	.	.	-20.2447	6.8542	0.24032	0.3073:0.3707:0.322:0.0	.	.	.	.	C	408	.	.	F	-	2	0	MAGI1	65390821	0.822000	0.29219	0.999000	0.59377	0.996000	0.88848	0.027000	0.13621	0.140000	0.18849	0.528000	0.53228	TTT	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000349132.2		-	ENST00000497477.2	Silent	SNP	3 : 65415781 - 65415781 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	227	34
PALD1	27143	broad.mit.edu	37	10	72307142	72307142	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:72307142C>T	ENST00000263563.6	+	18	2470	c.2202C>T	c.(2200-2202)agC>agT	p.S734S		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1	NA											NA						ACACTGTCAGCGAGACCATGA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	121	132			NA	NA	10		NA											NA				72307142		2203	4300	6503	SO:0001819	synonymous_variant			AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719	27143	27143			23530	protein-coding gene	gene with protein product		614656	paladin, KIAA1274	PALD, KIAA1274	NA		Standard	NM_014431	NM_014431	NA	Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.2202C>T	10.37:g.72307142C>T		NA		37	CCDS31215.1	.	.	.	.	.	.	.	.	.	.	C	6.538	0.467473	0.12402	.	.	ENSG00000107719	ENST00000426268	.	.	.	4.03	-5.11	0.02901	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-16.5918	13.5129	0.61524	0.0:0.3296:0.0:0.6704	.	.	.	.	X	115	.	.	R	+	1	2	KIAA1274	71977148	0.000000	0.05858	0.850000	0.33497	0.582000	0.36321	-2.318000	0.01121	-1.570000	0.01665	-1.360000	0.01215	CGA	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048515.2		+	ENST00000263563.6	Silent	SNP	10 : 72307142 - 72307142 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	681	55
PTRF	284119	broad.mit.edu	37	17	40557266	40557266	+	Silent	SNP	G	G	A	rs137932986		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40557266G>A	ENST00000357037.5	-	2	1031	c.612C>T	c.(610-612)gaC>gaT	p.D204D		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	204					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding	p.D204D(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CCACCGCCTCGTCCGACGAAA	0.672		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)											83	89	87			NA	NA	17		NA											NA				40557266		2203	4300	6503	SO:0001819	synonymous_variant			AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469	284119	284119			9688	protein-coding gene	gene with protein product		603198			NA	9582279	Standard	NM_012232	NM_012232	NA	Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.612C>T	17.37:g.40557266G>A		NA	B2RAW7|O00535|Q6GMY1|Q96H74|Q9BT85|Q9HAP4	37	CCDS11425.1																																																																																			PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449938.1		-	ENST00000357037.5	Silent	SNP	17 : 40557266 - 40557266 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1404	280
ATR	545	broad.mit.edu	37	3	142281779	142281779	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142281779G>T	ENST00000350721.4	-	4	586	c.465C>A	c.(463-465)gaC>gaA	p.D155E	ATR_ENST00000383101.3_Missense_Mutation_p.D155E	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	155					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GGTAAACCAAGTCTTCAAAAA	0.353		NA						Other conserved DNA damage response genes						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	81	78			NA	NA	3		NA											NA				142281779		2203	4299	6502	SO:0001583	missense			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054	545	545			882	protein-coding gene	gene with protein product	MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)	601215	ataxia telangiectasia and Rad3 related		NA	8978690, 8610130	Standard	NM_001184	NM_001184	NA	Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.465C>A	3.37:g.142281779G>T	ENSP00000343741:p.Asp155Glu	NA	Q59HB2|Q7KYL3|Q93051|Q9BXK4	37	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.546167	0.45383	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.66099	-0.19;-0.19	5.78	-2.14	0.07123	Armadillo-type fold (1);	0.051870	0.64402	D	0.000001	T	0.50616	0.1626	M	0.63428	1.95	0.26028	N	0.981785	B	0.33857	0.429	B	0.27608	0.081	T	0.46317	-0.9200	10	0.23891	T	0.37	-14.3611	13.4513	0.61172	0.6071:0.0:0.3929:0.0	.	155	Q13535	ATR_HUMAN	E	155	ENSP00000343741:D155E;ENSP00000372581:D155E	ENSP00000343741:D155E	D	-	3	2	ATR	143764469	0.998000	0.40836	0.990000	0.47175	0.974000	0.67602	0.455000	0.21843	-0.237000	0.09739	0.591000	0.81541	GAC	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353995.2		-	ENST00000350721.4	Missense_Mutation	SNP	3 : 142281779 - 142281779 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	625	93
THBS2	7058	broad.mit.edu	37	6	169623504	169623504	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:169623504A>C	ENST00000366787.3	-	19	3089	c.2840T>G	c.(2839-2841)gTg>gGg	p.V947G	XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_5'UTR	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	947					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TTCAGGACACACATCATCAAT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(91;219 1934 18562 44706)							NA				0													146	124	132			NA	NA	6		NA											NA				169623504		2203	4300	6503	SO:0001583	missense				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340	7058	7058			11786	protein-coding gene	gene with protein product		188061			NA	18455130	Standard	NM_003247	NM_003247	NA	Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2840T>G	6.37:g.169623504A>C	ENSP00000355751:p.Val947Gly	NA	A6H8N1|A7E232|Q5RI52	37	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	A	19.63	3.863967	0.71949	.	.	ENSG00000186340	ENST00000366787;ENST00000392099	D	0.98493	-4.96	4.73	4.73	0.59995	.	0.000000	0.36972	U	0.002312	D	0.98642	0.9545	M	0.87456	2.885	0.80722	D	1	D	0.61080	0.989	P	0.60949	0.881	D	0.99445	1.0939	10	0.87932	D	0	-31.2608	14.2292	0.65879	1.0:0.0:0.0:0.0	.	947	P35442	TSP2_HUMAN	G	947;205	ENSP00000355751:V947G	ENSP00000355751:V947G	V	-	2	0	THBS2	169365429	1.000000	0.71417	0.996000	0.52242	0.777000	0.43975	6.838000	0.75359	1.747000	0.51819	0.386000	0.25728	GTG	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000105439.1		-	ENST00000366787.3	Missense_Mutation	SNP	6 : 169623504 - 169623504 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	501	75
OR5D18	219438	broad.mit.edu	37	11	55587163	55587163	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55587163G>A	ENST00000333976.4	+	1	78	c.58G>A	c.(58-60)Gat>Aat	p.D20N		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GGGCTTCTCAGATTACCCAGA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	110	112			NA	NA	11		NA											NA				55587163		2200	4296	6496	SO:0001583	missense			AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119	219438	219438		GPCR / Class A : Olfactory receptors	15285	protein-coding gene	gene with protein product					NA		Standard	NM_001001952	NM_001001952	NA	Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.58G>A	11.37:g.55587163G>A	ENSP00000335025:p.Asp20Asn	NA	Q6IF67|Q6IFD3|Q96RB3	37	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	16.82	3.228406	0.58777	.	.	ENSG00000186119	ENST00000333976	T	0.00433	7.43	5.18	3.3	0.37823	.	0.390655	0.18927	N	0.127316	T	0.00328	0.0010	L	0.29908	0.895	0.29344	N	0.865858	B	0.10296	0.003	B	0.24394	0.053	T	0.21861	-1.0233	10	0.42905	T	0.14	-14.4095	10.7949	0.46455	0.1567:0.0:0.8433:0.0	.	20	Q8NGL1	OR5DI_HUMAN	N	20	ENSP00000335025:D20N	ENSP00000335025:D20N	D	+	1	0	OR5D18	55343739	0.003000	0.15002	0.987000	0.45799	0.995000	0.86356	0.869000	0.27996	0.722000	0.32252	0.632000	0.83419	GAT	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391515.1		+	ENST00000333976.4	Missense_Mutation	SNP	11 : 55587163 - 55587163 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	399	96
FAM188B	84182	broad.mit.edu	37	7	30876373	30876373	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30876373T>C	ENST00000265299.6	+	7	1309	c.1232T>C	c.(1231-1233)gTa>gCa	p.V411A	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	411										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GACCTCTCAGTAGCAAAGGTA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													170	167	168			NA	NA	7		NA											NA				30876373		2047	4203	6250	SO:0001583	missense			AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125	84182	84182			21916	protein-coding gene	gene with protein product			chromosome 7 open reading frame 67	C7orf67	NA		Standard	NM_032222	NM_032222	NA	Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1232T>C	7.37:g.30876373T>C	ENSP00000265299:p.Val411Ala	NA	Q71AZ7|Q9H6D2	37	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	T	7.292	0.611184	0.14066	.	.	ENSG00000106125	ENST00000265299	T	0.09538	2.97	4.67	2.37	0.29283	.	0.921018	0.09231	N	0.830597	T	0.09423	0.0232	L	0.44542	1.39	0.19300	N	0.999974	B	0.13145	0.007	B	0.09377	0.004	T	0.35301	-0.9794	10	0.87932	D	0	-1.3325	2.773	0.05340	0.1888:0.1998:0.0:0.6114	.	411	Q4G0A6	F188B_HUMAN	A	411	ENSP00000265299:V411A	ENSP00000265299:V411A	V	+	2	0	FAM188B	30842898	0.028000	0.19301	0.811000	0.32455	0.576000	0.36127	0.479000	0.22228	0.948000	0.37687	0.528000	0.53228	GTA	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327962.1		+	ENST00000265299.6	Missense_Mutation	SNP	7 : 30876373 - 30876373 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	453	112
TARBP1	6894	broad.mit.edu	37	1	234529405	234529405	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234529405C>T	ENST00000040877.1	-	27	4421	c.4422G>A	c.(4420-4422)ccG>ccA	p.P1474P	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1474					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CTAAATTGGTCGGTTTGTCGA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	71	70			NA	NA	1		NA											NA				234529405		2203	4300	6503	SO:0001819	synonymous_variant				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588	6894	6894			11568	protein-coding gene	gene with protein product	tRNA methyltransferase 3 homolog (S. cerevisiae)	605052	Tar (HIV-1) RNA binding protein 1		NA	1936997	Standard	NM_005646	NM_005646	NA	Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4422G>A	1.37:g.234529405C>T		NA	Q9H581	37	CCDS1601.1																																																																																			TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092616.1		-	ENST00000040877.1	Silent	SNP	1 : 234529405 - 234529405 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	446	122
NOTCH2	4853	broad.mit.edu	37	1	120459014	120459014	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120459014T>C	ENST00000256646.2	-	34	6550	c.6331A>G	c.(6331-6333)Acc>Gcc	p.T2111A		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2111					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTAGGCATGGTACTCTTGGCA	0.537		NA	N, F, Mis		marginal zone lymphoma, DLBCL				Alagille Syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													127	106	113			NA	NA	1		NA											NA				120459014		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250	4853	4853		Ankyrin repeat domain containing	7882	protein-coding gene	gene with protein product		600275	Notch (Drosophila) homolog 2, Notch homolog 2 (Drosophila)		NA	7698746	Standard	NM_024408	NM_001200001	NA	Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.6331A>G	1.37:g.120459014T>C	ENSP00000256646:p.Thr2111Ala	NA	Q5T3X7|Q99734|Q9H240	37	CCDS908.1	.	.	.	.	.	.	.	.	.	.	T	1.298	-0.605717	0.03717	.	.	ENSG00000134250	ENST00000256646	D	0.81499	-1.5	5.71	-3.15	0.05233	.	0.615279	0.13441	N	0.387715	T	0.22399	0.0540	N	0.00707	-1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47636	-0.9102	10	0.08179	T	0.78	.	13.4241	0.61015	0.0:0.4741:0.0:0.5259	.	2111	Q04721	NOTC2_HUMAN	A	2111	ENSP00000256646:T2111A	ENSP00000256646:T2111A	T	-	1	0	NOTCH2	120260537	0.000000	0.05858	0.134000	0.22075	0.927000	0.56198	-0.652000	0.05366	-0.590000	0.05866	0.459000	0.35465	ACC	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033679.1		-	ENST00000256646.2	Missense_Mutation	SNP	1 : 120459014 - 120459014 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	333	10
CLPTM1	1209	broad.mit.edu	37	19	45496135	45496135	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45496135G>A	ENST00000541297.2	+	14	2413	c.1948G>A	c.(1948-1950)Gag>Aag	p.E650K	CLPTM1_ENST00000337392.5_Missense_Mutation_p.E664K|CLPTM1_ENST00000546079.1_Missense_Mutation_p.E562K			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	664					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		AAAGCCAGCAGAGGACAAGAA	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	47	45			NA	NA	19		NA											NA				45496135		2202	4300	6502	SO:0001583	missense			AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853	1209	1209			2087	protein-coding gene	gene with protein product		604783			NA	9828125	Standard	NM_001294	NM_001294	NA	Approved		uc002pai.3	O96005		ENST00000541297.2:c.1948G>A	19.37:g.45496135G>A	ENSP00000442011:p.Glu650Lys	NA	Q53ET6|Q9BSS5	37		.	.	.	.	.	.	.	.	.	.	G	17.11	3.306244	0.60305	.	.	ENSG00000104853	ENST00000546079;ENST00000541297;ENST00000337392	.	.	.	5.11	2.96	0.34315	.	.	.	.	.	T	0.21962	0.0529	N	0.08118	0	0.27186	N	0.960542	B;B	0.11235	0.0;0.004	B;B	0.09377	0.003;0.004	T	0.15378	-1.0439	8	0.42905	T	0.14	.	7.1091	0.25380	0.0916:0.1721:0.7363:0.0	.	650;664	F5H8J3;O96005	.;CLPT1_HUMAN	K	562;650;664	.	ENSP00000336994:E664K	E	+	1	0	CLPTM1	50187975	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.229000	0.51278	0.737000	0.32582	0.650000	0.86243	GAG	CLPTM1-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000453266.1		+	ENST00000541297.2	Missense_Mutation	SNP	19 : 45496135 - 45496135 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	312	14
DMXL1	1657	broad.mit.edu	37	5	118484538	118484538	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118484538G>T	ENST00000311085.8	+	18	3096	c.3016G>T	c.(3016-3018)Gat>Tat	p.D1006Y	DMXL1_ENST00000539542.1_Missense_Mutation_p.D1006Y	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1006										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CAGAGTAACAGATGGAGAATC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	113	114			NA	NA	5		NA											NA				118484538		2202	4300	6502	SO:0001583	missense			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869	1657	1657		WD repeat domain containing	2937	protein-coding gene	gene with protein product		605671			NA	10708522	Standard	NM_005509	NM_005509	NA	Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.3016G>T	5.37:g.118484538G>T	ENSP00000309690:p.Asp1006Tyr	NA		37	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	4.261	0.047475	0.08243	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.01422	4.91;4.91	5.5	-5.91	0.02269	.	2.186180	0.01385	N	0.013067	T	0.01254	0.0041	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.48906	-0.8993	10	0.66056	D	0.02	1.9386	3.4989	0.07665	0.3765:0.3392:0.1976:0.0868	.	1006;1006	F5H269;Q9Y485	.;DMXL1_HUMAN	Y	1006	ENSP00000309690:D1006Y;ENSP00000439479:D1006Y	ENSP00000309690:D1006Y	D	+	1	0	DMXL1	118512437	0.000000	0.05858	0.004000	0.12327	0.675000	0.39556	-0.644000	0.05415	-0.804000	0.04410	-0.878000	0.02970	GAT	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250862.1		+	ENST00000311085.8	Missense_Mutation	SNP	5 : 118484538 - 118484538 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	590	112
HEATR5A	25938	broad.mit.edu	37	14	31844154	31844154	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31844154G>A	ENST00000543095.2	-	12	1913	c.1729C>T	c.(1729-1731)Cac>Tac	p.H577Y	HEATR5A_ENST00000389961.3_Missense_Mutation_p.H571Y|HEATR5A_ENST00000404677.3_Missense_Mutation_p.H577Y|HEATR5A_ENST00000439727.1_Missense_Mutation_p.H284Y|HEATR5A_ENST00000439348.1_Missense_Mutation_p.H571Y	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	571							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CGAGCAAGGTGATGGCTAACA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	63	63			NA	NA	14		NA											NA				31844154		1935	4139	6074	SO:0001583	missense			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493	25938	25938			20276	protein-coding gene	gene with protein product			chromosome 14 open reading frame 125	C14orf125	NA		Standard	NM_015473	NM_015473	NA	Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000543095.2:c.1729C>T	14.37:g.31844154G>A	ENSP00000437968:p.His577Tyr	NA	Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.981905|3.981905	0.74474|0.74474	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677|ENST00000550366	T;T;T;T;T|.	0.08008|.	3.14;3.14;3.14;3.14;3.14|.	5.72|5.72	5.72|5.72	0.89469|0.89469	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.051661|.	0.85682|.	D|.	0.000000|.	D|D	0.82802|0.82802	0.5116|0.5116	M|M	0.84219|0.84219	2.685|2.685	0.80722|0.80722	D|D	1|1	D;P;D|.	0.76494|.	0.997;0.92;0.999|.	D;P;D|.	0.67725|.	0.92;0.615;0.953|.	T|T	0.83343|0.83343	-0.0007|-0.0007	10|5	0.07990|.	T|.	0.79|.	.|.	19.8765|19.8765	0.96875|0.96875	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	577;571;571|.	B5MC49;Q86XA9-2;Q86XA9|.	.;.;HTR5A_HUMAN|.	Y|L	571;571;284;577;577|219	ENSP00000374611:H571Y;ENSP00000405407:H571Y;ENSP00000408681:H284Y;ENSP00000437968:H577Y;ENSP00000384646:H577Y|.	ENSP00000374611:H571Y|.	H|S	-|-	1|2	0|0	HEATR5A|HEATR5A	30913905|30913905	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.986000|0.986000	0.74619|0.74619	5.725000|5.725000	0.68507|0.68507	2.695000|2.695000	0.91970|0.91970	0.650000|0.650000	0.86243|0.86243	CAC|TCA	HEATR5A-001	NOVEL	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000402061.3		-	ENST00000543095.2	Missense_Mutation	SNP	14 : 31844154 - 31844154 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	85	24
ZNF416	55659	broad.mit.edu	37	19	58083494	58083494	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58083494A>C	ENST00000196489.3	-	4	2000	c.1778T>G	c.(1777-1779)aTt>aGt	p.I593S		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	593					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GAGTTAAACAATGTTAGATCT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	151	153			NA	NA	19		NA											NA				58083494		2203	4300	6503	SO:0001583	missense			BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817	55659	55659		Zinc fingers, C2H2-type, -	20645	protein-coding gene	gene with protein product					NA		Standard	NM_017879	NM_017879	NA	Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.1778T>G	19.37:g.58083494A>C	ENSP00000196489:p.Ile593Ser	NA	Q9NWW8	37	CCDS12954.1	.	.	.	.	.	.	.	.	.	.	A	8.822	0.937800	0.18206	.	.	ENSG00000083817	ENST00000196489	T	0.07444	3.19	3.15	-0.543	0.11851	.	.	.	.	.	T	0.06962	0.0177	L	0.39898	1.24	0.09310	N	1	B	0.15141	0.012	B	0.12156	0.007	T	0.35525	-0.9785	9	0.87932	D	0	.	4.7548	0.13078	0.5167:0.3727:0.1106:0.0	.	593	Q9BWM5	ZN416_HUMAN	S	593	ENSP00000196489:I593S	ENSP00000196489:I593S	I	-	2	0	ZNF416	62775306	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	1.512000	0.35812	-0.348000	0.08286	-0.411000	0.06167	ATT	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466787.1		-	ENST00000196489.3	Missense_Mutation	SNP	19 : 58083494 - 58083494 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	967	157
LRRK2	120892	broad.mit.edu	37	12	40637414	40637414	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40637414A>G	ENST00000298910.7	+	7	827	c.769A>G	c.(769-771)Atg>Gtg	p.M257V	LRRK2_ENST00000343742.2_Missense_Mutation_p.M257V	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	257					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.M257V(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGTGGAAGCTATGAAAGCATT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(2)											191	177	182			NA	NA	12		NA											NA				40637414		2203	4300	6503	SO:0001583	missense			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906	120892	120892		Parkinson disease	18618	protein-coding gene	gene with protein product		609007	Parkinson disease (autosomal dominant) 8	PARK8	NA	15541308	Standard	XM_058513	NM_198578	NA	Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.769A>G	12.37:g.40637414A>G	ENSP00000298910:p.Met257Val	NA	A6NJU2|Q6ZS50|Q8NCX9	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	19.80	3.893962	0.72639	.	.	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	T;T;T	0.64260	-0.09;1.36;1.36	5.95	5.95	0.96441	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75620	0.3874	L	0.59436	1.845	0.46131	D	0.998883	D	0.59767	0.986	D	0.70227	0.968	T	0.76558	-0.2915	10	0.54805	T	0.06	.	15.4114	0.74923	1.0:0.0:0.0:0.0	.	257	Q5S007	LRRK2_HUMAN	V	141;257;257	ENSP00000398726:M141V;ENSP00000341930:M257V;ENSP00000298910:M257V	ENSP00000298910:M257V	M	+	1	0	LRRK2	38923681	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	5.938000	0.70170	2.282000	0.76494	0.533000	0.62120	ATG	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277179.1		+	ENST00000298910.7	Missense_Mutation	SNP	12 : 40637414 - 40637414 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	562	22
PSMD11	5717	broad.mit.edu	37	17	30796059	30796059	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30796059C>A	ENST00000261712.3	+	6	754	c.491C>A	c.(490-492)gCt>gAt	p.A164D	PSMD11_ENST00000457654.2_Missense_Mutation_p.A164D	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	164					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			GACGACAAAGCTCTTTTGGTG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(130;1038 1716 9294 11987 19279)							NA				0													78	78	78			NA	NA	17		NA											NA				30796059		2203	4300	6503	SO:0001583	missense			AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671	5717	5717		Proteasome (prosome, macropain) subunits	9556	protein-coding gene	gene with protein product		604449			NA	9426256, 9119060	Standard	NM_002815	NM_001270482	NA	Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.491C>A	17.37:g.30796059C>A	ENSP00000261712:p.Ala164Asp	NA	A8K3I7|E1P663|O00495	37	CCDS11272.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261777	0.39995	.	.	ENSG00000108671	ENST00000261712	T	0.43294	0.95	5.65	5.65	0.86999	PCI/PINT associated module (1);	0.000000	0.85682	D	0.000000	T	0.34366	0.0895	L	0.37507	1.11	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.17098	0.017;0.003	T	0.10730	-1.0617	10	0.11485	T	0.65	-6.4445	17.2626	0.87075	0.0:1.0:0.0:0.0	.	164;164	B4DTS5;O00231	.;PSD11_HUMAN	D	164	ENSP00000261712:A164D	ENSP00000261712:A164D	A	+	2	0	PSMD11	27820172	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.551000	0.82182	2.941000	0.99782	0.655000	0.94253	GCT	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256252.2		+	ENST00000261712.3	Missense_Mutation	SNP	17 : 30796059 - 30796059 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	79
PLCB2	5330	broad.mit.edu	37	15	40583386	40583386	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40583386T>C	ENST00000260402.3	-	27	3120		c.e27-2		PLCB2_ENST00000557821.1_Splice_Site|PLCB2_ENST00000456256.2_Splice_Site	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	NA					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGCAGGCTCCTGGGGAGGCCA	0.731		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													5	7	6			NA	NA	15		NA											NA				40583386		1769	3833	5602	SO:0001630	splice_region_variant				CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	5330	5330	3.1.4.11		9055	protein-coding gene	gene with protein product		604114			NA	1644792, 9925923	Standard		XM_005254448	NA	Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.2871-2A>G	15.37:g.40583386T>C		NA	A8K6J2	37	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	T	14.74	2.626412	0.46840	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	.	.	.	4.34	4.34	0.51931	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2433	0.54555	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLCB2	38370678	0.997000	0.39634	0.180000	0.23079	0.091000	0.18340	1.835000	0.39181	1.788000	0.52465	0.459000	0.35465	.	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418430.1	Intron	-	ENST00000260402.3	Splice_Site	SNP	15 : 40583386 - 40583386 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	74	9
PAPPA2	60676	broad.mit.edu	37	1	176738773	176738773	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176738773C>T	ENST00000367662.3	+	16	5518	c.4354C>T	c.(4354-4356)Cac>Tac	p.H1452Y		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1452	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTCTTCTGGGCACTGGGACCA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	115	118			NA	NA	1		NA											NA				176738773		1905	4122	6027	SO:0001583	missense			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183	60676	60676			14615	protein-coding gene	gene with protein product			placenta-specific 3	PLAC3	NA	11018262, 11264294	Standard		NM_021936	NA	Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4354C>T	1.37:g.176738773C>T	ENSP00000356634:p.His1452Tyr	NA	Q96PH7|Q96PH8|Q9H4C9	37	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295248	0.40594	.	.	ENSG00000116183	ENST00000367662	T	0.76060	-0.99	6.17	2.18	0.27775	Sushi/SCR/CCP (1);	0.567281	0.20649	N	0.088252	T	0.67887	0.2941	L	0.60455	1.87	0.09310	N	0.999998	B	0.30542	0.284	B	0.33339	0.162	T	0.58891	-0.7556	10	0.44086	T	0.13	-8.2663	8.212	0.31488	0.0:0.6964:0.113:0.1906	.	1452	Q9BXP8	PAPP2_HUMAN	Y	1452	ENSP00000356634:H1452Y	ENSP00000356634:H1452Y	H	+	1	0	PAPPA2	175005396	0.000000	0.05858	0.983000	0.44433	0.960000	0.62799	0.126000	0.15769	0.468000	0.27243	0.655000	0.94253	CAC	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084763.1		+	ENST00000367662.3	Missense_Mutation	SNP	1 : 176738773 - 176738773 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	555	49
ZNF267	10308	broad.mit.edu	37	16	31927189	31927189	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31927189G>T	ENST00000300870.10	+	4	1828	c.1619G>T	c.(1618-1620)aGa>aTa	p.R540I		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	540					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						GTGCATGAGAGAATTCATACT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	41	40			NA	NA	16		NA											NA				31927189		2197	4299	6496	SO:0001583	missense			X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947	10308	10308		Zinc fingers, C2H2-type, -	13060	protein-coding gene	gene with protein product		604752			NA	7865130	Standard	NM_003414	NM_003414	NA	Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.1619G>T	16.37:g.31927189G>T	ENSP00000300870:p.Arg540Ile	NA	A0JNZ9|Q8NE41|Q9NRJ0	37	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	7.610	0.674609	0.14841	.	.	ENSG00000185947	ENST00000300870	T	0.02446	4.29	0.458	0.458	0.16670	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04452	0.0122	M	0.67953	2.075	0.80722	D	1	D	0.61080	0.989	P	0.44359	0.447	T	0.50162	-0.8860	9	0.54805	T	0.06	.	6.6931	0.23183	1.0E-4:0.0:0.9999:0.0	.	540	Q14586	ZN267_HUMAN	I	540	ENSP00000300870:R540I	ENSP00000300870:R540I	R	+	2	0	ZNF267	31834690	0.000000	0.05858	0.108000	0.21378	0.095000	0.18619	0.278000	0.18753	0.482000	0.27582	0.484000	0.47621	AGA	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432446.2		+	ENST00000300870.10	Missense_Mutation	SNP	16 : 31927189 - 31927189 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	46
RUNX3	864	broad.mit.edu	37	1	25291031	25291031	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25291031G>A	ENST00000338888.3	-	2	277	c.32C>T	c.(31-33)cCg>cTg	p.P11L	RUNX3_ENST00000399916.1_Missense_Mutation_p.P11L			Q13761	RUNX3_HUMAN	runt-related transcription factor 3	256					cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		CGAGTAGGTCGGGAAGGAGTC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	52	57			NA	NA	1		NA											NA				25291031		2202	4300	6502	SO:0001583	missense			BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633	864	864			10473	protein-coding gene	gene with protein product		600210		CBFA3	NA	7835892	Standard	NM_004350	NM_001031680	NA	Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000338888.3:c.32C>T	1.37:g.25291031G>A	ENSP00000343477:p.Pro11Leu	NA	Q12969|Q13760	37	CCDS30633.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786488	0.49997	.	.	ENSG00000020633	ENST00000399916;ENST00000338888	D;D	0.96745	-4.11;-4.11	5.67	5.67	0.87782	.	0.351698	0.20834	N	0.084826	D	0.93890	0.8045	N	0.11560	0.145	0.80722	D	1	D;B	0.61080	0.989;0.027	P;B	0.53490	0.727;0.01	D	0.94337	0.7567	10	0.51188	T	0.08	-20.3512	15.2825	0.73797	0.0:0.0:1.0:0.0	.	11;11	Q13761-2;B1AJV5	.;.	L	11	ENSP00000382800:P11L;ENSP00000343477:P11L	ENSP00000343477:P11L	P	-	2	0	RUNX3	25163618	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.755000	0.68750	2.677000	0.91161	0.561000	0.74099	CCG	RUNX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000009285.1		-	ENST00000338888.3	Missense_Mutation	SNP	1 : 25291031 - 25291031 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	103	10
OR10J3	441911	broad.mit.edu	37	1	159283537	159283537	+	Missense_Mutation	SNP	G	G	A	rs144550384	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159283537G>A	ENST00000332217.5	-	1	912	c.913C>T	c.(913-915)Cgt>Tgt	p.R305C		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TTTGCCCCACGGCTCTGTGCA	0.428		NA											G	1	5e-04	0.002	NA	2184	NA	0.9998	,	,	NA	2e-04	NA	NA	NA	3e-04	0.7498	LOWCOV	NA	NA	3e-04	SNP								NA				0								G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	80	75	77		913	-4.5	0	1	dbSNP_134	77	0,8600		0,0,4300	no	missense	OR10J3	NM_001004467.1	180	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	benign	305/330	159283537	1,13005	2203	4300	6503	SO:0001583	missense				CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266	441911	441911		GPCR / Class A : Olfactory receptors	14992	protein-coding gene	gene with protein product				OR10J3P	NA		Standard		NM_001004467	NA	Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.913C>T	1.37:g.159283537G>A	ENSP00000331789:p.Arg305Cys	NA		37	CCDS30909.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	10.72	1.429576	0.25726	2.27E-4	0.0	ENSG00000196266	ENST00000332217	T	0.00538	6.71	5.21	-4.52	0.03472	.	2.411510	0.03146	U	0.167340	T	0.00144	0.0004	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44421	-0.9329	10	0.87932	D	0	.	12.9063	0.58154	0.7819:0.0:0.2181:0.0	.	305	Q5JRS4	O10J3_HUMAN	C	305	ENSP00000331789:R305C	ENSP00000331789:R305C	R	-	1	0	OR10J3	157550161	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-2.088000	0.01359	-0.865000	0.04073	-0.137000	0.14449	CGT	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090629.1		-	ENST00000332217.5	Missense_Mutation	SNP	1 : 159283537 - 159283537 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	602	119
CXCR4	7852	broad.mit.edu	37	2	136872482	136872482	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136872482G>T	ENST00000409817.1	-	1	1331	c.1028C>A	c.(1027-1029)tCt>tAt	p.S343Y	CXCR4_ENST00000241393.3_Missense_Mutation_p.S339Y|CXCR4_ENST00000466288.1_5'UTR	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	339					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	AGTGGAAACAGATGAATGTCC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													180	172	175			NA	NA	2		NA											NA				136872482		2203	4300	6503	SO:0001583	missense			AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966	NA	7852		CD molecules, GPCR / Class A : Chemokine receptors : C-X-C motif	2561	protein-coding gene	gene with protein product		162643	chemokine (C-X-C motif), receptor 4 (fusin)		NA	9599023, 9379028	Standard		NM_001008540	NA	Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000409817.1:c.1028C>A	2.37:g.136872482G>T	ENSP00000386884:p.Ser343Tyr	NA	B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	37	CCDS33295.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.091409	0.36855	.	.	ENSG00000121966	ENST00000409817;ENST00000241393;ENST00000537957	T;T	0.61627	0.09;0.09	5.95	5.95	0.96441	.	0.195409	0.56097	D	0.000035	T	0.64605	0.2613	N	0.14661	0.345	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.85130	0.994;0.997	T	0.68032	-0.5516	10	0.54805	T	0.06	.	20.4024	0.99000	0.0:0.0:1.0:0.0	.	339;343	P61073;P61073-2	CXCR4_HUMAN;.	Y	343;339;209	ENSP00000386884:S343Y;ENSP00000241393:S339Y	ENSP00000241393:S339Y	S	-	2	0	CXCR4	136588952	1.000000	0.71417	1.000000	0.80357	0.386000	0.30323	9.476000	0.97823	2.827000	0.97445	0.650000	0.86243	TCT	CXCR4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331734.1		-	ENST00000409817.1	Missense_Mutation	SNP	2 : 136872482 - 136872482 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	101	14
WDR72	256764	broad.mit.edu	37	15	53815426	53815426	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:53815426G>A	ENST00000559418.1	-	18	3305	c.3272C>T	c.(3271-3273)tCt>tTt	p.S1091F	WDR72_ENST00000567224.1_5'UTR|WDR72_ENST00000557913.1_Missense_Mutation_p.S1078F|WDR72_ENST00000360509.5_Missense_Mutation_p.S1081F|WDR72_ENST00000396328.1_Missense_Mutation_p.S1081F			Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1081										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGGACTCTCAGACTCTTCCAA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													183	178	180			NA	NA	15		NA											NA				53815426		2194	4293	6487	SO:0001583	missense			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415	256764	256764		WD repeat domain containing	26790	protein-coding gene	gene with protein product		613214			NA		Standard	NM_182758	NM_182758	NA	Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000559418.1:c.3272C>T	15.37:g.53815426G>A	ENSP00000452765:p.Ser1091Phe	NA	Q7Z3I3|Q8N8X2	37		.	.	.	.	.	.	.	.	.	.	G	18.41	3.616979	0.66672	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.53640	0.61;0.61	6.17	6.17	0.99709	.	0.235283	0.30649	N	0.009171	T	0.63129	0.2485	L	0.51422	1.61	0.37861	D	0.929711	D	0.64830	0.994	P	0.60173	0.87	T	0.65076	-0.6256	10	0.87932	D	0	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	1081	Q3MJ13	WDR72_HUMAN	F	1081	ENSP00000379619:S1081F;ENSP00000353699:S1081F	ENSP00000353699:S1081F	S	-	2	0	WDR72	51602718	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.918000	0.75788	2.941000	0.99782	0.655000	0.94253	TCT	WDR72-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000418739.1		-	ENST00000559418.1	Missense_Mutation	SNP	15 : 53815426 - 53815426 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1196	191
REM2	161253	broad.mit.edu	37	14	23353936	23353936	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23353936C>T	ENST00000536884.1	+	2	223	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W	REM2_ENST00000267396.4_Missense_Mutation_p.R53W			Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	53					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		AGAGTTGGACCGGAGCGGGTT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	50	49			NA	NA	14		NA											NA				23353936		1937	4131	6068	SO:0001583	missense				CCDS45082.1	14q11.2	2014-05-09	2006-12-14		ENSG00000139890	ENSG00000139890	161253	161253			20248	protein-coding gene	gene with protein product			RAS (RAD and GEM) like GTP binding 2		NA	10727423	Standard	NM_173527	NM_173527	NA	Approved	FLJ38964	uc001whf.1	Q8IYK8	OTTHUMG00000170277	ENST00000536884.1:c.157C>T	14.37:g.23353936C>T	ENSP00000442774:p.Arg53Trp	NA	Q8N8R8	37		.	.	.	.	.	.	.	.	.	.	C	12.74	2.028516	0.35797	.	.	ENSG00000139890	ENST00000267396;ENST00000536884	T;T	0.68765	-0.35;1.21	5.82	3.98	0.46160	.	0.626172	0.16062	N	0.231414	T	0.51550	0.1681	N	0.19112	0.55	0.29543	N	0.851932	B;B	0.13145	0.007;0.0	B;B	0.10450	0.005;0.001	T	0.52102	-0.8620	10	0.87932	D	0	.	10.6536	0.45663	0.1317:0.7978:0.0:0.0705	.	53;53	B7Z5P1;Q8IYK8	.;REM2_HUMAN	W	53	ENSP00000267396:R53W;ENSP00000442774:R53W	ENSP00000267396:R53W	R	+	1	2	REM2	22423776	0.197000	0.23362	0.944000	0.38274	0.268000	0.26511	0.611000	0.24268	0.785000	0.33685	0.655000	0.94253	CGG	REM2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000408291.1		+	ENST00000536884.1	Missense_Mutation	SNP	14 : 23353936 - 23353936 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	373	65
SIN3A	25942	broad.mit.edu	37	15	75684615	75684615	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75684615C>A	ENST00000394947.3	-	15	3133	c.2819G>T	c.(2818-2820)aGc>aTc	p.S940I	SIN3A_ENST00000394949.4_Missense_Mutation_p.S940I|SIN3A_ENST00000360439.4_Missense_Mutation_p.S940I	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	940					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						AATGGCAGGGCTGTCACTCTT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													182	168	173			NA	NA	15		NA											NA				75684615		2197	4294	6491	SO:0001583	missense			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375	25942	25942			19353	protein-coding gene	gene with protein product		607776	SIN3 homolog A, transcription regulator (yeast), SIN3 transcription regulator homolog A (yeast)		NA	10773092, 7601471	Standard	NM_015477	NM_001145357	NA	Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.2819G>T	15.37:g.75684615C>A	ENSP00000378402:p.Ser940Ile	NA	B2RNS5|Q8N8N4|Q8NC83|Q8WV18|Q96L98|Q9UFQ1	37	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951296	0.73787	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.48201	0.82;0.82;0.82	5.79	5.79	0.91817	.	0.036039	0.85682	D	0.000000	T	0.55705	0.1937	M	0.61703	1.905	0.80722	D	1	P	0.45474	0.859	P	0.46543	0.52	T	0.54675	-0.8258	10	0.45353	T	0.12	-19.3019	19.0195	0.92908	0.0:1.0:0.0:0.0	.	940	Q96ST3	SIN3A_HUMAN	I	940	ENSP00000378402:S940I;ENSP00000378403:S940I;ENSP00000353622:S940I	ENSP00000353622:S940I	S	-	2	0	SIN3A	73471668	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	4.715000	0.61909	2.746000	0.94184	0.655000	0.94253	AGC	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286469.1		-	ENST00000394947.3	Missense_Mutation	SNP	15 : 75684615 - 75684615 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	975	209
CUL7	9820	broad.mit.edu	37	6	43017878	43017878	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43017878C>T	ENST00000265348.3	-	6	1477	c.1392G>A	c.(1390-1392)tgG>tgA	p.W464*	CUL7_ENST00000535468.1_Nonsense_Mutation_p.W548*			Q14999	CUL7_HUMAN	cullin 7	464					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCATGGGCCTCCAGCGCCAGG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	99	102			NA	NA	6		NA											NA				43017878		2203	4300	6503	SO:0001587	stop_gained			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090	9820	9820			21024	protein-coding gene	gene with protein product		609577	KIAA0076	KIAA0076	NA	12481031, 12904573	Standard	NM_014780	NM_014780	NA	Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.1392G>A	6.37:g.43017878C>T	ENSP00000265348:p.Trp464*	NA	Q5T654	37	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	37	6.253305	0.97417	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	.	.	.	5.12	5.12	0.69794	.	0.258920	0.41097	D	0.000948	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.9001	13.3299	0.60480	0.0:0.7068:0.2932:0.0	.	.	.	.	X	464;548	.	ENSP00000265348:W464X	W	-	3	0	CUL7	43125856	.	.	1.000000	0.80357	0.637000	0.38172	.	.	2.395000	0.81488	0.655000	0.94253	TGG	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040575.1		-	ENST00000265348.3	Nonsense_Mutation	SNP	6 : 43017878 - 43017878 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	530	24
ISOC2	79763	broad.mit.edu	37	19	55964733	55964733	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55964733G>A	ENST00000438389.2	-	5	1184	c.350C>T	c.(349-351)cCc>cTc	p.P117L	ISOC2_ENST00000425675.2_Missense_Mutation_p.P187L|ISOC2_ENST00000085068.3_Missense_Mutation_p.P203L	NM_001136202.1	NP_001129674.1	Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2	187					protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding			endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		GTCTGGGGCGGGCTCCTTGAT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	72	72			NA	NA	19		NA											NA				55964733		2203	4300	6503	SO:0001583	missense			AK027122	CCDS12925.1, CCDS46194.1, CCDS46195.1	19q13.42	2011-07-14			ENSG00000063241	ENSG00000063241	79763	79763			26278	protein-coding gene	gene with protein product		612928			NA	17658461	Standard	NM_024710	NM_024710	NA	Approved	FLJ23469	uc002qla.3	Q96AB3		ENST00000438389.2:c.350C>T	19.37:g.55964733G>A	ENSP00000406364:p.Pro117Leu	NA	Q6ZN91|Q9H5G0	37	CCDS46194.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854128	0.51270	.	.	ENSG00000063241	ENST00000085068;ENST00000425675;ENST00000438389	.	.	.	4.59	4.59	0.56863	Isochorismatase-like (2);	0.000000	0.85682	D	0.000000	T	0.43964	0.1271	N	0.17474	0.49	0.80722	D	1	B;B;B	0.29766	0.144;0.256;0.165	B;B;B	0.32928	0.155;0.043;0.044	T	0.42137	-0.9469	9	0.37606	T	0.19	-9.5899	15.2799	0.73773	0.0:0.0:1.0:0.0	.	117;187;203	Q96AB3-3;Q96AB3;Q96AB3-2	.;ISOC2_HUMAN;.	L	203;187;117	.	ENSP00000085068:P203L	P	-	2	0	ISOC2	60656545	1.000000	0.71417	0.932000	0.37286	0.660000	0.38997	8.136000	0.89610	2.275000	0.75901	0.555000	0.69702	CCC	ISOC2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453177.1		-	ENST00000438389.2	Missense_Mutation	SNP	19 : 55964733 - 55964733 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	141	23
UPF3B	65109	broad.mit.edu	37	X	118972012	118972012	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118972012G>T	ENST00000276201.2	-	10	1079	c.1010C>A	c.(1009-1011)cCt>cAt	p.P337H	UPF3B_ENST00000345865.2_Missense_Mutation_p.P324H	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	337	Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						CTCATCTTCAGGTCTGCATGA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	91	94			NA	NA	X		NA											NA				118972012		2203	4299	6502	SO:0001583	missense			AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351	NA	65109			20439	protein-coding gene	gene with protein product		300298	mental retardation, X-linked 62	MRX62	NA	11113196, 11163187, 19238151	Standard		NM_023010	NA	Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.1010C>A	X.37:g.118972012G>T	ENSP00000276201:p.Pro337His	NA	D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	37	CCDS14588.1	.	.	.	.	.	.	.	.	.	.	G	7.040	0.562328	0.13498	.	.	ENSG00000125351	ENST00000276201;ENST00000345865	T;T	0.77098	-1.06;-1.07	5.68	1.5	0.22942	.	1.350910	0.04170	N	0.324587	T	0.73651	0.3614	L	0.54323	1.7	0.09310	N	1	B;B	0.28584	0.216;0.042	B;B	0.30572	0.117;0.054	T	0.56703	-0.7935	10	0.62326	D	0.03	.	4.7105	0.12870	0.3564:0.0:0.5039:0.1397	.	324;337	Q9BZI7-2;Q9BZI7	.;REN3B_HUMAN	H	337;324	ENSP00000276201:P337H;ENSP00000245418:P324H	ENSP00000276201:P337H	P	-	2	0	UPF3B	118856040	0.010000	0.17322	0.005000	0.12908	0.050000	0.14768	0.624000	0.24462	-0.143000	0.11334	-0.212000	0.12691	CCT	UPF3B-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058068.1		-	ENST00000276201.2	Missense_Mutation	SNP	X : 118972012 - 118972012 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	593	67
ARHGAP39	80728	broad.mit.edu	37	8	145757761	145757761	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145757761C>T	ENST00000276826.5	-	8	3016	c.2815G>A	c.(2815-2817)Gag>Aag	p.E939K	ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E970K|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E939K			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	939	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GCATTCACCTCGTCAATGTCC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	52	59			NA	NA	8		NA											NA				145757761		2203	4298	6501	SO:0001583	missense				CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799	80728	80728		Rho GTPase activating proteins	29351	protein-coding gene	gene with protein product	RhoGAP93B homolog (Drosophila), crossGAP homolog (Drosophila)	615880			NA	15755809	Standard		XM_005272344	NA	Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.2815G>A	8.37:g.145757761C>T	ENSP00000276826:p.Glu939Lys	NA	B4E1I1	37		.	.	.	.	.	.	.	.	.	.	C	35	5.440753	0.96168	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.18657	2.2;2.2;2.2	5.45	5.45	0.79879	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.36799	0.0980	L	0.38953	1.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.957;0.994	T	0.02081	-1.1217	10	0.35671	T	0.21	-33.0693	16.768	0.85528	0.0:1.0:0.0:0.0	.	939;970	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	K	939;970;939	ENSP00000276826:E939K;ENSP00000366522:E970K;ENSP00000445075:E939K	ENSP00000276826:E939K	E	-	1	0	ARHGAP39	145728569	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.656000	0.83736	2.565000	0.86533	0.561000	0.74099	GAG	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000382509.1		-	ENST00000276826.5	Missense_Mutation	SNP	8 : 145757761 - 145757761 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	163	23
TBX1	6899	broad.mit.edu	37	22	19770458	19770458	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19770458G>A	ENST00000359500.3	+	9	1161	c.1032G>A	c.(1030-1032)ggG>ggA	p.G344G		NM_005992.1	NP_005983.1	O43435	TBX1_HUMAN	T-box 1	0					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				aaggctctgggctccaacctg	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	124	127			NA	NA	22		NA											NA				19770458		2203	4300	6503	SO:0001819	synonymous_variant			AF012131	CCDS13765.1, CCDS13766.1, CCDS13767.1	22q11.21	2014-09-17			ENSG00000184058	ENSG00000184058	6899	6899		T-boxes	11592	protein-coding gene	gene with protein product		602054	velocardiofacial syndrome	VCF	NA	9268629, 23000736	Standard	NM_080647	NM_080646	NA	Approved	CATCH22	uc002zqa.1	O43435	OTTHUMG00000150421	ENST00000359500.3:c.1032G>A	22.37:g.19770458G>A		NA	C6G493|C6G494|O43436|Q96RJ2	37	CCDS13765.1																																																																																			TBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318032.1		+	ENST00000359500.3	Silent	SNP	22 : 19770458 - 19770458 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	830	140
SSFA2	6744	broad.mit.edu	37	2	182781011	182781011	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182781011G>T	ENST00000409136.1	+	3	1283	c.1171G>T	c.(1171-1173)Gct>Tct	p.A391S	SSFA2_ENST00000428267.2_Missense_Mutation_p.A729S|SSFA2_ENST00000409001.1_Missense_Mutation_p.A882S|SSFA2_ENST00000431877.2_Missense_Mutation_p.A882S|SSFA2_ENST00000320370.7_Missense_Mutation_p.A882S			P28290	SSFA2_HUMAN	sperm specific antigen 2	882						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TAGTGCCTTCGCTTCCCCTTT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	121	127			NA	NA	2		NA											NA				182781011		2203	4300	6503	SO:0001583	missense			M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434	6744	6744			11319	protein-coding gene	gene with protein product	cleavage signal-1 protein, KRAS-induced actin-interacting protein, sperm associated antigen 13	118990			NA	1555770	Standard	NM_006751	XM_005246812	NA	Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000409136.1:c.1171G>T	2.37:g.182781011G>T	ENSP00000386916:p.Ala391Ser	NA	A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	37		.	.	.	.	.	.	.	.	.	.	G	0.009	-1.857345	0.00558	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.55	-11.1	0.00147	.	2.062670	0.01651	N	0.024554	T	0.17066	0.0410	L	0.34521	1.04	0.09310	N	1	B;B;B;B;B	0.12630	0.006;0.006;0.006;0.006;0.006	B;B;B;B;B	0.13407	0.003;0.009;0.003;0.003;0.003	T	0.09207	-1.0685	10	0.16420	T	0.52	5.4602	5.474	0.16686	0.163:0.2509:0.4531:0.133	.	729;391;882;882;882	E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.;.;.;SSFA2_HUMAN;.	S	882;882;882;729;391	ENSP00000388731:A882S;ENSP00000314669:A882S;ENSP00000387319:A882S;ENSP00000409867:A729S;ENSP00000386916:A391S	ENSP00000314669:A882S	A	+	1	0	SSFA2	182489256	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.891000	0.01611	-3.744000	0.00112	-0.136000	0.14681	GCT	SSFA2-009	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000334804.1		+	ENST00000409136.1	Missense_Mutation	SNP	2 : 182781011 - 182781011 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	556	127
NEDD4	4734	broad.mit.edu	37	15	56139215	56139215	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56139215C>A	ENST00000506154.1	-	14	3045	c.2769G>T	c.(2767-2769)agG>agT	p.R923S	NEDD4_ENST00000508342.1_Missense_Mutation_p.R939S|NEDD4_ENST00000435532.3_Missense_Mutation_p.R520S|NEDD4_ENST00000338963.2_Missense_Mutation_p.R867S	NM_001284339.1	NP_001271268.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	939	Mediates interaction with TNIK (By similarity).|WW 4.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTTTGTAATCCCTGGAGTAGG	0.299		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	15		NA											NA				56139215		2192	4286	6478	SO:0001583	missense			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869	4734	4734			7727	protein-coding gene	gene with protein product	receptor-potentiating factor 1	602278	neural precursor cell expressed, developmentally down-regulated 4		NA	9073511, 8649367	Standard	NM_198400	XR_243101	NA	Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000506154.1:c.2769G>T	15.37:g.56139215C>A	ENSP00000422705:p.Arg923Ser	NA	A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.33|19.33	3.807542|3.807542	0.70797|0.70797	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508871|ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154	.|T;T;T;T	.|0.24538	.|1.85;1.95;1.89;1.87	5.95|5.95	3.29|3.29	0.37713|0.37713	.|HECT (1);	.|0.122035	.|0.85682	.|D	.|0.000000	T|T	0.52757|0.52757	0.1754|0.1754	M|M	0.89478|0.89478	3.035|3.035	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.993;0.999;0.999	.|D;D;D;D	.|0.81914	.|0.995;0.912;0.933;0.952	T|T	0.58741|0.58741	-0.7583|-0.7583	5|10	.|0.87932	.|D	.|0	.|.	9.2975|9.2975	0.37824|0.37824	0.0:0.6987:0.0:0.3013|0.0:0.6987:0.0:0.3013	.|.	.|923;520;939;867	.|P46934-2;P46934-4;P46934;P46934-3	.|.;.;NEDD4_HUMAN;.	V|S	530|939;520;867;923	.|ENSP00000424827:R939S;ENSP00000410613:R520S;ENSP00000345530:R867S;ENSP00000422705:R923S	.|ENSP00000345530:R867S	G|R	-|-	2|3	0|2	NEDD4|NEDD4	53926507|53926507	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.470000|1.470000	0.35354|0.35354	1.167000|1.167000	0.42706|0.42706	0.650000|0.650000	0.86243|0.86243	GGG|AGG	NEDD4-003	KNOWN	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000359818.1		-	ENST00000506154.1	Missense_Mutation	SNP	15 : 56139215 - 56139215 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	254	41
IQSEC3	440073	broad.mit.edu	37	12	274980	274980	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:274980C>T	ENST00000538872.1	+	11	3013	c.2895C>T	c.(2893-2895)gaC>gaT	p.D965D	RP11-598F7.5_ENST00000540136.1_RNA|IQSEC3_ENST00000326261.4_Silent_p.D965D|IQSEC3_ENST00000382841.2_Silent_p.D662D			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	965	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TGGGCTCGGACGAGATGCAGA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	73	74			NA	NA	12		NA											NA				274980		2203	4300	6503	SO:0001819	synonymous_variant			AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645	440073	440073			29193	protein-coding gene	gene with protein product		612118			NA	10470851	Standard	XM_495902	NM_001170738	NA	Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2895C>T	12.37:g.274980C>T		NA	A6NIF2|A6NKV9|Q8TB43	37	CCDS53728.1																																																																																			IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397382.3		+	ENST00000538872.1	Silent	SNP	12 : 274980 - 274980 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	278	55
MED12L	116931	broad.mit.edu	37	3	150903146	150903146	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150903146G>A	ENST00000474524.1	+	11	1562	c.1524G>A	c.(1522-1524)acG>acA	p.T508T	MED12L_ENST00000422248.2_Silent_p.T508T|MED12L_ENST00000273432.4_Silent_p.T368T|MED12L_ENST00000309237.4_Silent_p.T508T	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	508					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGTGGTGACGCTGTTATGTG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	107	115			NA	NA	3		NA											NA				150903146		2203	4300	6503	SO:0001819	synonymous_variant			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893	116931	116931			16050	protein-coding gene	gene with protein product		611318	mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like		NA	11524702	Standard	NM_053002	XM_006713487	NA	Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1524G>A	3.37:g.150903146G>A		NA	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	37	CCDS33876.1																																																																																			MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357707.2		+	ENST00000474524.1	Silent	SNP	3 : 150903146 - 150903146 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	392	77
REST	5978	broad.mit.edu	37	4	57777432	57777432	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57777432G>T	ENST00000309042.7	+	2	942	c.628G>T	c.(628-630)Gat>Tat	p.D210Y	REST_ENST00000514063.1_3'UTR	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	210					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AGAAGAGGGAGATTTCTCCAA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	55	55			NA	NA	4		NA											NA				57777432		2203	4300	6503	SO:0001583	missense			U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093	5978	5978			9966	protein-coding gene	gene with protein product		600571			NA	7871435, 7697725	Standard	NM_005612	NM_005612	NA	Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.628G>T	4.37:g.57777432G>T	ENSP00000311816:p.Asp210Tyr	NA	A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	37	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832111	0.71258	.	.	ENSG00000084093	ENST00000456010;ENST00000309042;ENST00000358605	T	0.10099	2.91	6.02	6.02	0.97574	.	0.162464	0.41097	D	0.000954	T	0.33673	0.0871	M	0.61703	1.905	0.50171	D	0.999851	D;D	0.89917	1.0;1.0	D;D	0.72075	0.956;0.976	T	0.00349	-1.1798	10	0.72032	D	0.01	-26.9232	20.1358	0.98028	0.0:0.0:1.0:0.0	.	210;210	Q13127-2;Q13127	.;REST_HUMAN	Y	210	ENSP00000311816:D210Y	ENSP00000311816:D210Y	D	+	1	0	REST	57472189	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	9.441000	0.97557	2.865000	0.98341	0.655000	0.94253	GAT	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250691.2		+	ENST00000309042.7	Missense_Mutation	SNP	4 : 57777432 - 57777432 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	345	47
CDH26	60437	broad.mit.edu	37	20	58562651	58562651	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58562651G>A	ENST00000348616.4	+	8	1281	c.981G>A	c.(979-981)tcG>tcA	p.S327S	CDH26_ENST00000244047.5_Silent_p.S327S	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	327	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TTGACATTTCGACTGACCCTG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	102	110			NA	NA	20		NA											NA				58562651		2203	4300	6503	SO:0001819	synonymous_variant			AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215	60437	60437		Cadherins / Major cadherins	15902	protein-coding gene	gene with protein product			cadherin-like 26		NA		Standard	NM_177980	NM_177980	NA	Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000348616.4:c.981G>A	20.37:g.58562651G>A		NA	A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	37	CCDS13485.1																																																																																			CDH26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079933.2		+	ENST00000348616.4	Silent	SNP	20 : 58562651 - 58562651 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	466	86
PWP1	11137	broad.mit.edu	37	12	108082504	108082504	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108082504G>A	ENST00000412830.3	+	3	412	c.244G>A	c.(244-246)Gag>Aag	p.E82K	PWP1_ENST00000541166.1_Missense_Mutation_p.E20K	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	82					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						TGGTGACCCAGAGGATGACAG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	129	133			NA	NA	12		NA											NA				108082504		2203	4300	6503	SO:0001583	missense			BC000067	CCDS9114.1	12q23.3	2013-06-10				ENSG00000136045	11137	11137		WD repeat domain containing	17015	protein-coding gene	gene with protein product	endonuclein				NA	7828893, 11850830	Standard	NM_007062	NM_007062	NA	Approved	IEF-SSP-9502	uc001tmo.1	Q13610	OTTHUMG00000169913	ENST00000412830.3:c.244G>A	12.37:g.108082504G>A	ENSP00000387365:p.Glu82Lys	NA	A8K3R6	37	CCDS9114.1	.	.	.	.	.	.	.	.	.	.	.	13.24	2.178588	0.38511	.	.	ENSG00000136045	ENST00000412830;ENST00000547995;ENST00000258531;ENST00000546068;ENST00000538327;ENST00000541166	T;T	0.70749	-0.5;-0.51	5.82	4.92	0.64577	.	0.296366	0.41396	D	0.000891	T	0.52773	0.1755	N	0.20357	0.565	0.30325	N	0.787161	B	0.06786	0.001	B	0.01281	0.0	T	0.42241	-0.9463	10	0.07990	T	0.79	.	14.0991	0.65042	0.0:0.2979:0.7021:0.0	.	82	Q13610	PWP1_HUMAN	K	82;20;82;82;82;20	ENSP00000387365:E82K;ENSP00000445249:E20K	ENSP00000258531:E82K	E	+	1	0	PWP1	106606634	1.000000	0.71417	0.063000	0.19743	0.792000	0.44763	4.115000	0.57865	1.414000	0.47017	0.579000	0.79373	GAG	PWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406539.1		+	ENST00000412830.3	Missense_Mutation	SNP	12 : 108082504 - 108082504 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	261	56
CMYA5	202333	broad.mit.edu	37	5	79031203	79031203	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79031203G>A	ENST00000446378.2	+	2	6646	c.6615G>A	c.(6613-6615)caG>caA	p.Q2205Q		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2205						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TAGAAACACAGCCAAGTCCAT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	102	103			NA	NA	5		NA											NA				79031203		1887	4113	6000	SO:0001819	synonymous_variant			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309	202333	202333		Tripartite motif containing / Tripartite motif containing, A-kinase anchor proteins, Fibronectin type III domain containing	14305	protein-coding gene	gene with protein product	genethonin-3, tripartite motif-containing 76	612193	chromosome 5 open reading frame 10	C5orf10	NA	14688250	Standard	NM_153610	NM_153610	NA	Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.6615G>A	5.37:g.79031203G>A		NA	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	37	CCDS47238.1																																																																																			CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369497.1		+	ENST00000446378.2	Silent	SNP	5 : 79031203 - 79031203 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	690	140
MTOR	2475	broad.mit.edu	37	1	11199383	11199383	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11199383T>C	ENST00000361445.4	-	36	5184	c.5108A>G	c.(5107-5109)aAc>aGc	p.N1703S	MTOR_ENST00000495435.1_5'UTR	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1703	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CTTCCACATGTTTTTCATGTA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													183	182	182			NA	NA	1		NA											NA				11199383		2203	4300	6503	SO:0001583	missense			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793	2475	2475			3942	protein-coding gene	gene with protein product	FK506 binding protein 12-rapamycin associated protein 2, rapamycin target protein, FKBP12-rapamycin complex-associated protein 1, FKBP-rapamycin associated protein, rapamycin associated protein FRAP2, dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1), rapamycin and FKBP12 target 1, mammalian target of rapamycin	601231	FK506 binding protein 12-rapamycin associated protein 1	FRAP, FRAP2, FRAP1	NA	8008069, 8660990	Standard	NM_004958	NM_004958	NA	Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5108A>G	1.37:g.11199383T>C	ENSP00000354558:p.Asn1703Ser	NA	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	T	16.94	3.261750	0.59431	.	.	ENSG00000198793	ENST00000361445	T	0.68765	-0.35	5.91	5.91	0.95273	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-like helical (1);	0.103030	0.64402	D	0.000002	T	0.56140	0.1965	N	0.24115	0.695	0.80722	D	1	B	0.19073	0.033	B	0.22880	0.042	T	0.52011	-0.8632	10	0.44086	T	0.13	-19.7299	16.3483	0.83171	0.0:0.0:0.0:1.0	.	1703	P42345	MTOR_HUMAN	S	1703	ENSP00000354558:N1703S	ENSP00000354558:N1703S	N	-	2	0	MTOR	11121970	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.555000	0.82223	2.254000	0.74563	0.533000	0.62120	AAC	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005558.1		-	ENST00000361445.4	Missense_Mutation	SNP	1 : 11199383 - 11199383 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	854	94
LHFPL5	222662	broad.mit.edu	37	6	35773690	35773690	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35773690C>T	ENST00000373853.1	+	1	621	c.243C>T	c.(241-243)ggC>ggT	p.G81G	LHFPL5_ENST00000360215.1_Silent_p.G81G			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	81						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TCTGCAAGGGCGGCCCCCTAG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													211	202	205			NA	NA	6		NA											NA				35773690		2203	4300	6503	SO:0001819	synonymous_variant			BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753	222662	222662			21253	protein-coding gene	gene with protein product		609427	deafness, autosomal recessive 67	DFNB67	NA	16459341	Standard	NM_182548	NM_182548	NA	Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.243C>T	6.37:g.35773690C>T		NA		37	CCDS4812.1																																																																																			LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040323.1		+	ENST00000373853.1	Silent	SNP	6 : 35773690 - 35773690 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1177	227
C9orf64	84267	broad.mit.edu	37	9	86559841	86559841	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86559841C>T	ENST00000376344.3	-	3	877	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	C9orf64_ENST00000314700.1_Missense_Mutation_p.E80K	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	221										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CCTTTTCCTTCCAATACACTC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	95	102			NA	NA	9		NA											NA				86559841		2203	4300	6503	SO:0001583	missense			AK090882	CCDS6666.2	9q22.1	2014-06-11			ENSG00000165118	ENSG00000165118	84267	84267			28144	protein-coding gene	gene with protein product		611342			NA	24911101	Standard	NM_032307	NM_032307	NA	Approved	MGC10999	uc004anb.3	Q5T6V5	OTTHUMG00000020111	ENST00000376344.3:c.661G>A	9.37:g.86559841C>T	ENSP00000365522:p.Glu221Lys	NA	B2RPI6|Q8N2B1|Q9BT18	37	CCDS6666.2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125138	0.77436	.	.	ENSG00000165118	ENST00000376344;ENST00000314700	.	.	.	5.24	3.4	0.38934	.	0.000000	0.85682	D	0.000000	T	0.41351	0.1155	L	0.31371	0.925	0.80722	D	1	B	0.13145	0.007	B	0.17722	0.019	T	0.14476	-1.0471	9	0.10902	T	0.67	-13.5167	11.5734	0.50848	0.0:0.8551:0.0:0.1449	.	221	Q5T6V5	CI064_HUMAN	K	221;80	.	ENSP00000318375:E80K	E	-	1	0	C9orf64	85749661	1.000000	0.71417	0.077000	0.20336	0.992000	0.81027	7.677000	0.84024	0.715000	0.32103	0.655000	0.94253	GAA	C9orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052865.1		-	ENST00000376344.3	Missense_Mutation	SNP	9 : 86559841 - 86559841 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	325	51
BRCA2	675	broad.mit.edu	37	13	32911541	32911541	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32911541A>T	ENST00000380152.3	+	11	3282	c.3049A>T	c.(3049-3051)Atc>Ttc	p.I1017F	BRCA2_ENST00000544455.1_Missense_Mutation_p.I1017F			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1017					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAATAAGGAAATCAAGCTCTC	0.323		NA	D, Mis, N, F, S		breast, ovarian, pancreatic	breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		L, E	0													43	47	46			NA	NA	13		NA											NA				32911541		2203	4295	6498	SO:0001583	missense	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618	675	675		Fanconi anemia, complementation groups	1101	protein-coding gene	gene with protein product	BRCA1/BRCA2-containing complex, subunit 2	600185	Fanconi anemia, complementation group D1	FANCD1, FACD, FANCD	NA	8091231, 7581463, 15057823	Standard	NM_000059	NM_000059	NA	Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.3049A>T	13.37:g.32911541A>T	ENSP00000369497:p.Ile1017Phe	NA	O00183|O15008|Q13879|Q5TBJ7	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.132024	0.77662	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.77877	-1.13;-1.13	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000001	D	0.83571	0.5283	L	0.36672	1.1	0.54753	D	0.999989	D	0.89917	1.0	D	0.91635	0.999	D	0.85389	0.1124	10	0.87932	D	0	.	16.3468	0.83138	1.0:0.0:0.0:0.0	.	1017	P51587	BRCA2_HUMAN	F	1017	ENSP00000369497:I1017F;ENSP00000439902:I1017F	ENSP00000369497:I1017F	I	+	1	0	BRCA2	31809541	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	6.875000	0.75551	2.263000	0.75096	0.529000	0.55759	ATC	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046000.2		+	ENST00000380152.3	Missense_Mutation	SNP	13 : 32911541 - 32911541 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	283	60
SPHKAP	80309	broad.mit.edu	37	2	228846450	228846450	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228846450G>T	ENST00000392056.3	-	12	5132	c.5086C>A	c.(5086-5088)Ctc>Atc	p.L1696I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.L1667I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1696						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGTTCCAAGAGCCAGTCAAAG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	91	95			NA	NA	2		NA											NA				228846450		2203	4300	6503	SO:0001583	missense				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820	80309	80309		A-kinase anchor proteins	30619	protein-coding gene	gene with protein product	sphingosine kinase type 1-interacting protein	611646			NA	12080051, 11214970	Standard	NM_030623	NM_030623	NA	Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.5086C>A	2.37:g.228846450G>T	ENSP00000375909:p.Leu1696Ile	NA	Q68DA3|Q68DR8|Q9C0I5	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488035	0.84854	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.14516	2.5;2.5	5.85	5.85	0.93711	A-kinase anchor 110kDa, C-terminal (1);	0.064498	0.64402	D	0.000011	T	0.37571	0.1008	M	0.64260	1.97	0.54753	D	0.999989	D;D	0.89917	1.0;0.995	D;D	0.87578	0.998;0.909	T	0.00945	-1.1505	10	0.48119	T	0.1	.	19.1516	0.93491	0.0:0.0:1.0:0.0	.	1696;1667	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	I	1696;1667	ENSP00000375909:L1696I;ENSP00000339886:L1667I	ENSP00000339886:L1667I	L	-	1	0	SPHKAP	228554694	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.056000	0.71111	2.773000	0.95371	0.655000	0.94253	CTC	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331750.1		-	ENST00000392056.3	Missense_Mutation	SNP	2 : 228846450 - 228846450 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	420	74
TMCO3	55002	broad.mit.edu	37	13	114156189	114156189	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114156189T>C	ENST00000434316.2	+	5	1298	c.939T>C	c.(937-939)agT>agC	p.S313S	TMCO3_ENST00000375391.1_Silent_p.S313S|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	313						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GACTAAATAGTATTAAGGTAA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	112	113			NA	NA	13		NA											NA				114156189		2203	4300	6503	SO:0001819	synonymous_variant			BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403	55002	55002			20329	protein-coding gene	gene with protein product			chromosome 13 open reading frame 11	C13orf11	NA		Standard	NM_017905	NM_017905	NA	Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.939T>C	13.37:g.114156189T>C		NA	Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	37	CCDS9537.1																																																																																			TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045931.3		+	ENST00000434316.2	Silent	SNP	13 : 114156189 - 114156189 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	98
PCDHGB7	56099	broad.mit.edu	37	5	140799113	140799113	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140799113C>A	ENST00000398594.2	+	1	1687	c.1687C>A	c.(1687-1689)Ctg>Atg	p.L563M	PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018927.3	NP_061750.1			protocadherin gamma subfamily B, 7	NA										central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGCGGGTGCTGTACCCTGC	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	35	33			NA	NA	5		NA											NA				140799113		2138	4247	6385	SO:0001583	missense			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122	56099	56099		Cadherins / Protocadherins : Clustered	8714	other	protocadherin	cadherin ME6	606304			NA	10380929	Standard	NM_018927	NM_032101	NA	Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1687C>A	5.37:g.140799113C>A	ENSP00000381594:p.Leu563Met	NA		37	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	c	15.07	2.723682	0.48728	.	.	ENSG00000254122	ENST00000398594	T	0.61980	0.06	5.38	4.51	0.55191	Cadherin-like (1);	0.000000	0.28624	U	0.014683	T	0.81640	0.4865	M	0.89840	3.065	0.23661	N	0.99718	D;D	0.89917	1.0;1.0	D;D	0.80764	0.992;0.994	T	0.75764	-0.3203	10	0.87932	D	0	.	12.9582	0.58442	0.0:0.9204:0.0:0.0796	.	563;563	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	M	563	ENSP00000381594:L563M	ENSP00000381594:L563M	L	+	1	2	PCDHGB7	140779297	0.071000	0.21146	1.000000	0.80357	0.813000	0.45954	0.749000	0.26320	1.270000	0.44297	0.491000	0.48974	CTG	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376973.1		+	ENST00000398594.2	Missense_Mutation	SNP	5 : 140799113 - 140799113 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	316	55
OR4C3	256144	broad.mit.edu	37	11	48347024	48347024	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48347024T>G	ENST00000319856.4	+	1	553	c.532T>G	c.(532-534)Ttc>Gtc	p.F178V		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GCTTGGGGGCTTCCTGCATTC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	129	131			NA	NA	11		NA											NA				48347024		2201	4298	6499	SO:0001583	missense			AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547	256144	256144		GPCR / Class A : Olfactory receptors	14697	protein-coding gene	gene with protein product					NA		Standard	NM_001004702	NM_001004702	NA	Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.532T>G	11.37:g.48347024T>G	ENSP00000321419:p.Phe178Val	NA	B2RNF2|Q6IFB3	37	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	T	16.47	3.132463	0.56828	.	.	ENSG00000176547	ENST00000319856;ENST00000395239	T	0.00164	8.64	5.78	1.97	0.26223	GPCR, rhodopsin-like superfamily (1);	0.116765	0.39210	N	0.001440	T	0.00210	0.0006	M	0.64997	1.995	0.09310	N	0.999999	P	0.34522	0.455	P	0.44811	0.461	T	0.27468	-1.0073	10	0.72032	D	0.01	.	2.4149	0.04433	0.1448:0.0808:0.3005:0.4738	.	151	Q8NH37	OR4C3_HUMAN	V	178;41	ENSP00000321419:F178V	ENSP00000321419:F178V	F	+	1	0	OR4C3	48303600	0.047000	0.20315	0.984000	0.44739	0.987000	0.75469	2.365000	0.44196	0.472000	0.27344	0.391000	0.25812	TTC	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390557.1		+	ENST00000319856.4	Missense_Mutation	SNP	11 : 48347024 - 48347024 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	694	38
ABCC10	89845	broad.mit.edu	37	6	43400424	43400424	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43400424G>T	ENST00000244533.3	+	1	936	c.577G>T	c.(577-579)Ggg>Tgg	p.G193W	ABCC10_ENST00000372530.4_Missense_Mutation_p.G236W|ABCC10_ENST00000443426.2_Intron	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	236						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GCTGGCCCGTGGGGCCTGTGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	44	43			NA	NA	6		NA											NA				43400424		2202	4300	6502	SO:0001583	missense			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574	89845	89845		ATP binding cassette transporters / subfamily C	52	protein-coding gene	gene with protein product		612509			NA	8894702	Standard	NM_033450	NM_033450	NA	Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000244533.3:c.577G>T	6.37:g.43400424G>T	ENSP00000244533:p.Gly193Trp	NA	Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	37	CCDS4896.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458568	0.84317	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.95690	-3.78;-3.66	5.54	5.54	0.83059	.	0.056809	0.64402	D	0.000001	D	0.96156	0.8747	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96918	0.9672	10	0.87932	D	0	-37.4308	19.4753	0.94985	0.0:0.0:1.0:0.0	.	193;236	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	W	236;193	ENSP00000361608:G236W;ENSP00000244533:G193W	ENSP00000244533:G193W	G	+	1	0	ABCC10	43508402	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	9.799000	0.99117	2.607000	0.88179	0.561000	0.74099	GGG	ABCC10-007	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040608.3		+	ENST00000244533.3	Missense_Mutation	SNP	6 : 43400424 - 43400424 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	521	91
XPR1	9213	broad.mit.edu	37	1	180849411	180849411	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180849411C>T	ENST00000367590.4	+	14	2206	c.2008C>T	c.(2008-2010)Cgc>Tgc	p.R670C	XPR1_ENST00000367589.3_Missense_Mutation_p.R605C	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	670						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CATATCCCTGCGCCGGCCTCG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	126	128			NA	NA	1		NA											NA				180849411		2203	4300	6503	SO:0001583	missense			AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324	9213	9213			12827	protein-coding gene	gene with protein product		605237	xenotropic and polytropic retrovirus receptor		NA	9990033	Standard	NM_004736	NM_004736	NA	Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.2008C>T	1.37:g.180849411C>T	ENSP00000356562:p.Arg670Cys	NA	O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	37	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272115	0.80469	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T	0.48201	0.82	5.56	4.64	0.57946	.	0.047493	0.85682	N	0.000000	T	0.50905	0.1643	L	0.50333	1.59	0.47476	D	0.99943	P;D	0.60160	0.95;0.987	P;B	0.49047	0.599;0.394	T	0.55192	-0.8179	10	0.56958	D	0.05	-2.4789	14.6826	0.69028	0.0:0.9285:0.0:0.0715	.	605;670	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	C	670;605	ENSP00000356562:R670C	ENSP00000356561:R605C	R	+	1	0	XPR1	179116034	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.988000	0.49386	1.461000	0.47929	0.591000	0.81541	CGC	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084996.2		+	ENST00000367590.4	Missense_Mutation	SNP	1 : 180849411 - 180849411 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	435	108
GOLIM4	27333	broad.mit.edu	37	3	167747014	167747014	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167747014C>A	ENST00000309027.4	-	10	1484	c.1426G>T	c.(1426-1428)Gga>Tga	p.G476*	GOLIM4_ENST00000470487.1_Nonsense_Mutation_p.G504*			O00461	GOLI4_HUMAN	golgi integral membrane protein 4	504	Gln-rich.|Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCACCACCTCCTTCCTCTCCT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	108	114			NA	NA	3		NA											NA				167747014		2203	4300	6503	SO:0001587	stop_gained			U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905	27333	27333			15448	protein-coding gene	gene with protein product		606805	golgi phosphoprotein 4	GOLPH4	NA	9201717, 15004235	Standard		NM_014498	NA	Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000309027.4:c.1426G>T	3.37:g.167747014C>A	ENSP00000309893:p.Gly476*	NA		37		.	.	.	.	.	.	.	.	.	.	C	45	11.814472	0.99605	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	4.97	4.97	0.65823	.	0.253136	0.39615	N	0.001302	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	18.2927	0.90136	0.0:1.0:0.0:0.0	.	.	.	.	X	504;476	.	ENSP00000309893:G476X	G	-	1	0	GOLIM4	169229708	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.734000	0.68580	2.325000	0.78763	0.549000	0.68633	GGA	GOLIM4-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000351279.1		-	ENST00000309027.4	Nonsense_Mutation	SNP	3 : 167747014 - 167747014 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	343	73
ENPP7	339221	broad.mit.edu	37	17	77709091	77709091	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77709091C>T	ENST00000328313.5	+	3	870	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W		NM_178543.3	NP_848638.3	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	217					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGAGATGGTGCGGCAGGTGGA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	46	46			NA	NA	17		NA											NA				77709091		2203	4300	6503	SO:0001583	missense			AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156	339221	339221			23764	protein-coding gene	gene with protein product	alkaline sphingomyelinase				NA	12885774	Standard	NM_178543	NM_178543	NA	Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.649C>T	17.37:g.77709091C>T	ENSP00000332656:p.Arg217Trp	NA	Q6ZTS5|Q8IUS8	37	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456406	0.63401	.	.	ENSG00000182156	ENST00000328313	T	0.74842	-0.88	4.75	-7.62	0.01294	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	1.834740	0.03017	N	0.150178	T	0.77698	0.4169	M	0.70275	2.135	0.09310	N	1	D	0.63046	0.992	P	0.58970	0.849	T	0.73824	-0.3861	10	0.72032	D	0.01	-3.7225	2.7238	0.05208	0.3744:0.241:0.2928:0.0918	.	217	Q6UWV6	ENPP7_HUMAN	W	217	ENSP00000332656:R217W	ENSP00000332656:R217W	R	+	1	2	ENPP7	75323686	0.000000	0.05858	0.015000	0.15790	0.864000	0.49448	-0.162000	0.10012	-0.936000	0.03723	-0.282000	0.10007	CGG	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437038.1		+	ENST00000328313.5	Missense_Mutation	SNP	17 : 77709091 - 77709091 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	341	76
KIF13B	23303	broad.mit.edu	37	8	29004938	29004938	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:29004938C>A	ENST00000524189.1	-	17	2033	c.1995G>T	c.(1993-1995)caG>caT	p.Q665H	KIF13B_ENST00000521515.1_Missense_Mutation_p.Q665H	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	665					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TTAAGCGTTGCTGAGCGCTGG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	36	37			NA	NA	8		NA											NA				29004938		1950	4164	6114	SO:0001583	missense			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892	23303	23303		Kinesins	14405	protein-coding gene	gene with protein product		607350			NA	9734811, 10859302, 16864656	Standard		NM_015254	NA	Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.1995G>T	8.37:g.29004938C>A	ENSP00000427900:p.Gln665His	NA	O75134|Q9BYJ6	37	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.391408	0.25118	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	T;T	0.72051	-0.62;-0.62	5.51	2.53	0.30540	.	0.055724	0.64402	D	0.000001	T	0.57257	0.2041	L	0.34521	1.04	0.80722	D	1	B;B	0.24092	0.097;0.045	B;B	0.23852	0.017;0.049	T	0.49995	-0.8879	10	0.49607	T	0.09	.	9.5339	0.39211	0.0:0.6796:0.0:0.3204	.	665;665	Q9NQT8;F8VPJ2	KI13B_HUMAN;.	H	665	ENSP00000427900:Q665H;ENSP00000429201:Q665H	ENSP00000429201:Q665H	Q	-	3	2	KIF13B	29060857	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	1.240000	0.32731	0.214000	0.20742	0.563000	0.77884	CAG	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376878.1		-	ENST00000524189.1	Missense_Mutation	SNP	8 : 29004938 - 29004938 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	96	21
TERF2	7014	broad.mit.edu	37	16	69395344	69395344	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69395344C>T	ENST00000254942.3	-	8	1405	c.1389G>A	c.(1387-1389)gaG>gaA	p.E463E	TERF2_ENST00000603068.1_Silent_p.E421E	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	421	HTH myb-type.				age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				CCACCCAAGTCTCCTTTTCTT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(13;63 524 30420 31710 34037)							NA				0													214	187	196			NA	NA	16		NA											NA				69395344		2198	4300	6498	SO:0001819	synonymous_variant				CCDS10879.1, CCDS10879.2	16q22.1	2008-02-05			ENSG00000132604	ENSG00000132604	7014	7014			11729	protein-coding gene	gene with protein product		602027		TRBF2	NA	9326950, 10226653	Standard		NM_005652	NA	Approved	TRF2	uc002exd.4	Q15554	OTTHUMG00000137566	ENST00000254942.3:c.1389G>A	16.37:g.69395344C>T		NA		37																																																																																				TERF2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000268944.2		-	ENST00000254942.3	Silent	SNP	16 : 69395344 - 69395344 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	653	107
SLC22A12	116085	broad.mit.edu	37	11	64359294	64359294	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64359294G>A	ENST00000377567.2	+	2	730	c.266G>A	c.(265-267)cGc>cAc	p.R89H	SLC22A12_ENST00000377572.1_Missense_Mutation_p.R89H|SLC22A12_ENST00000377574.1_Missense_Mutation_p.R89H|SLC22A12_ENST00000336464.7_Missense_Mutation_p.R89H|SLC22A12_ENST00000473690.1_5'UTR			Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	89					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						CACCAGTGCCGCCGCTTCCGC	0.667		NA											G	2	9e-04	NA	NA	2184	0.0035	1	,	,	NA	3e-04	NA	NA	NA	9e-04	0.9768	EXOME	NA	NA	6e-04	SNP								NA				0													23	27	26			NA	NA	11		NA											NA				64359294		2196	4294	6490	SO:0001583	missense			AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891	116085	116085		Solute carriers	17989	protein-coding gene	gene with protein product		607096	solute carrier family 22 (organic anion/cation transporter), member 12		NA	12024214	Standard	NM_144585	NM_144585	NA	Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377567.2:c.266G>A	11.37:g.64359294G>A	ENSP00000366790:p.Arg89His	NA	B7WPG1|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	37		2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	9.530	1.110479	0.20714	.	.	ENSG00000197891	ENST00000377567;ENST00000377574;ENST00000377572;ENST00000336464	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	4.4	-3.38	0.04883	.	0.452831	0.22567	N	0.058382	T	0.14399	0.0348	L	0.58354	1.805	0.20196	N	0.999926	P;P;P;P	0.49253	0.809;0.809;0.921;0.809	B;B;B;B	0.43194	0.106;0.106;0.411;0.106	T	0.19679	-1.0298	10	0.28530	T	0.3	.	8.6014	0.33747	0.0809:0.0:0.2911:0.628	.	89;89;89;89	B5ME56;B3KV05;Q96S37-2;Q96S37	.;.;.;S22AC_HUMAN	H	89	ENSP00000366790:R89H;ENSP00000366797:R89H;ENSP00000366795:R89H;ENSP00000336836:R89H	ENSP00000336836:R89H	R	+	2	0	SLC22A12	64115870	0.000000	0.05858	0.089000	0.20774	0.132000	0.20833	-0.585000	0.05794	-0.818000	0.04329	0.484000	0.47621	CGC	SLC22A12-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000141957.2		+	ENST00000377567.2	Missense_Mutation	SNP	11 : 64359294 - 64359294 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	273	51
TGM1	7051	broad.mit.edu	37	14	24729006	24729006	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24729006C>T	ENST00000206765.6	-	6	1011	c.888G>A	c.(886-888)ggG>ggA	p.G296G	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	296					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CATCCAGCACCCCGTGGTCAA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	38	41			NA	NA	14		NA											NA				24729006		2203	4300	6503	SO:0001819	synonymous_variant			D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	7051	7051	2.3.2.13	Transglutaminases	11777	protein-coding gene	gene with protein product	K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase	190195	transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)	ICR2	NA	11390390	Standard	NM_000359	NM_000359	NA	Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.888G>A	14.37:g.24729006C>T		NA	Q197M4	37	CCDS9622.1																																																																																			TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000073160.6		-	ENST00000206765.6	Silent	SNP	14 : 24729006 - 24729006 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	172	7
SFRP1	6422	broad.mit.edu	37	8	41161013	41161013	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41161013C>A	ENST00000379845.3	-	2	313	c.181G>T	c.(181-183)Gcc>Tcc	p.A61S	SFRP1_ENST00000220772.3_Missense_Mutation_p.A197S			Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	197	FZ.				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			TCAATGATGGCCTCAGATTTC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	108	114			NA	NA	8		NA											NA				41161013		2203	4300	6503	SO:0001583	missense			AF017987	CCDS34886.1	8p11.21	2006-12-15			ENSG00000104332	ENSG00000104332	6422	6422		Secreted frizzled-related proteins	10776	protein-coding gene	gene with protein product		604156			NA	9391078, 9192640	Standard	NM_003012	NM_003012	NA	Approved	SARP2, FRP, FRP-1	uc003xnt.3	Q8N474	OTTHUMG00000164074	ENST00000379845.3:c.181G>T	8.37:g.41161013C>A	ENSP00000369174:p.Ala61Ser	NA	O00546|O14779	37		.	.	.	.	.	.	.	.	.	.	C	12.42	1.931677	0.34096	.	.	ENSG00000104332	ENST00000220772;ENST00000379845;ENST00000535263	T;T	0.29917	1.55;1.55	5.6	5.6	0.85130	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);	0.186377	0.46145	D	0.000304	T	0.18425	0.0442	N	0.17474	0.49	0.41152	D	0.986038	B	0.13145	0.007	B	0.14023	0.01	T	0.08310	-1.0728	10	0.09338	T	0.73	.	13.877	0.63660	0.1523:0.8477:0.0:0.0	.	197	Q8N474	SFRP1_HUMAN	S	197;61;197	ENSP00000220772:A197S;ENSP00000369174:A61S	ENSP00000220772:A197S	A	-	1	0	SFRP1	41280170	1.000000	0.71417	0.998000	0.56505	0.510000	0.34073	1.723000	0.38053	2.793000	0.96121	0.563000	0.77884	GCC	SFRP1-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000377133.1		-	ENST00000379845.3	Missense_Mutation	SNP	8 : 41161013 - 41161013 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	241	20
AMER1	139285	broad.mit.edu	37	X	63412815	63412815	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:63412815G>T	ENST00000330258.3	-	2	624	c.352C>A	c.(352-354)Ctg>Atg	p.L118M	AMER1_ENST00000403336.1_Missense_Mutation_p.L118M|AMER1_ENST00000374869.3_Missense_Mutation_p.L118M	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1	NA								p.0?(67)			NA						GGCAAAGGCAGGGAGAAGCCA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)											93	69	77			NA	NA	X		NA											NA				63412815		2203	4300	6503	SO:0001583	missense			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675	139285	139285		-	26837	protein-coding gene	gene with protein product	Wilms Tumor on the X, adenomatous polyposis coli membrane recruitment 1	300647	family with sequence similarity 123B	FAM123B	NA	21304492, 21498506, 20843316	Standard	NM_152424	NM_152424	NA	Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.352C>A	X.37:g.63412815G>T	ENSP00000329117:p.Leu118Met	NA		37	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	G	7.138	0.581155	0.13686	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.19394	2.15;2.15;2.15	4.59	-8.89	0.00785	.	0.929015	0.08991	N	0.864409	T	0.20577	0.0495	L	0.47716	1.5	0.09310	N	1	P	0.43542	0.81	P	0.53006	0.715	T	0.08269	-1.0730	10	0.46703	T	0.11	-0.412	2.6619	0.05029	0.5551:0.0883:0.173:0.1836	.	118	Q5JTC6	F123B_HUMAN	M	118	ENSP00000364003:L118M;ENSP00000329117:L118M;ENSP00000384722:L118M	ENSP00000329117:L118M	L	-	1	2	FAM123B	63329540	0.000000	0.05858	0.000000	0.03702	0.129000	0.20672	-0.576000	0.05854	-2.418000	0.00566	-0.191000	0.12829	CTG	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316584.1		-	ENST00000330258.3	Missense_Mutation	SNP	X : 63412815 - 63412815 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	274	67
ZNF565	147929	broad.mit.edu	37	19	36673443	36673443	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36673443G>A	ENST00000355114.5	-	5	2271	c.1545C>T	c.(1543-1545)taC>taT	p.Y515Y	ZNF565_ENST00000392173.2_Silent_p.Y475Y|ZNF565_ENST00000304116.5_Silent_p.Y475Y			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			CTCTACATTCGTAAGGTTTGA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	96	100			NA	NA	19		NA											NA				36673443		2203	4300	6503	SO:0001819	synonymous_variant			AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357	147929	147929		Zinc fingers, C2H2-type, -	26726	protein-coding gene	gene with protein product		614275			NA		Standard	NM_152477	NM_001042474	NA	Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.1545C>T	19.37:g.36673443G>A		NA	Q6NUS2	37																																																																																				ZNF565-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000451697.1		-	ENST00000355114.5	Silent	SNP	19 : 36673443 - 36673443 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	305	57
NRROS	375387	broad.mit.edu	37	3	196388376	196388376	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196388376G>A	ENST00000328557.4	+	3	2065	c.1862G>A	c.(1861-1863)tGc>tAc	p.C621Y		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species	NA											NA						ATGGTCACCTGCAACCTCTCC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	81	79			NA	NA	3		NA											NA				196388376		2203	4299	6502	SO:0001583	missense			AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004	375387	375387			24613	protein-coding gene	gene with protein product		615322	leucine rich repeat containing 33	LRRC33	NA	12975309	Standard	NM_198565	NM_198565	NA	Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.1862G>A	3.37:g.196388376G>A	ENSP00000328625:p.Cys621Tyr	NA		37	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502274	0.44455	.	.	ENSG00000174004	ENST00000328557	T	0.63913	-0.07	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.79317	0.4425	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.68192	0.956	T	0.79855	-0.1627	10	0.72032	D	0.01	.	20.1421	0.98061	0.0:0.0:1.0:0.0	.	621	Q86YC3	LRC33_HUMAN	Y	621	ENSP00000328625:C621Y	ENSP00000328625:C621Y	C	+	2	0	LRRC33	197872773	1.000000	0.71417	0.999000	0.59377	0.276000	0.26787	7.161000	0.77505	2.836000	0.97738	0.655000	0.94253	TGC	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340676.1		+	ENST00000328557.4	Missense_Mutation	SNP	3 : 196388376 - 196388376 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	666	30
HCAR2	338442	broad.mit.edu	37	12	123186899	123186899	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123186899C>T	ENST00000328880.5	-	1	991	c.932G>A	c.(931-933)cGc>cAc	p.R311H	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	311			R -> C (in dbSNP:rs7314976).		negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	CTGGAGGCAGCGGTTGATCAA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	105	114			NA	NA	12		NA											NA				123186899		2203	4300	6503	SO:0001583	missense			AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782	338442	338442		GPCR / Class A : Hydroxy-carboxylic acid receptors	24827	protein-coding gene	gene with protein product	niacin receptor 1	609163	G protein-coupled receptor 109A	GPR109A	NA	21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551	NM_177551	NA	Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.932G>A	12.37:g.123186899C>T	ENSP00000375066:p.Arg311His	NA	A0PJL5|A7LGG3	37	CCDS9235.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554667	0.65425	.	.	ENSG00000182782	ENST00000328880;ENST00000536970	T	0.39592	1.07	5.18	3.35	0.38373	.	0.391930	0.23183	U	0.050997	T	0.50701	0.1631	M	0.64404	1.975	0.30341	N	0.785752	D	0.89917	1.0	P	0.59288	0.855	T	0.49799	-0.8901	10	0.15066	T	0.55	-28.1761	10.4766	0.44667	0.0:0.8381:0.0:0.1619	.	311	Q8TDS4	HCAR2_HUMAN	H	311	ENSP00000375066:R311H	ENSP00000375066:R311H	R	-	2	0	HCAR2	121752852	1.000000	0.71417	0.995000	0.50966	0.835000	0.47333	1.305000	0.33493	0.836000	0.34901	0.563000	0.77884	CGC	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370202.1		-	ENST00000328880.5	Missense_Mutation	SNP	12 : 123186899 - 123186899 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	545	93
ATR	545	broad.mit.edu	37	3	142232395	142232395	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142232395G>T	ENST00000350721.4	-	26	4710	c.4589C>A	c.(4588-4590)cCa>cAa	p.P1530Q	ATR_ENST00000383101.3_Missense_Mutation_p.P1466Q	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1530					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CAGAATATGTGGAAGAAGATA	0.358		NA						Other conserved DNA damage response genes						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	122	126			NA	NA	3		NA											NA				142232395		2203	4300	6503	SO:0001583	missense			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054	545	545			882	protein-coding gene	gene with protein product	MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)	601215	ataxia telangiectasia and Rad3 related		NA	8978690, 8610130	Standard	NM_001184	NM_001184	NA	Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.4589C>A	3.37:g.142232395G>T	ENSP00000343741:p.Pro1530Gln	NA	Q59HB2|Q7KYL3|Q93051|Q9BXK4	37	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669772	0.88348	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.39056	1.1;1.1	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.68842	0.3045	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74842	-0.3527	10	0.87932	D	0	-13.4082	18.397	0.90502	0.0:0.0:1.0:0.0	.	1530	Q13535	ATR_HUMAN	Q	1530;1466	ENSP00000343741:P1530Q;ENSP00000372581:P1466Q	ENSP00000343741:P1530Q	P	-	2	0	ATR	143715085	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.415000	0.81967	0.491000	0.48974	CCA	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353995.2		-	ENST00000350721.4	Missense_Mutation	SNP	3 : 142232395 - 142232395 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	382	66
EP300	2033	broad.mit.edu	37	22	41574502	41574502	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41574502C>T	ENST00000263253.7	+	31	8006	c.6787C>T	c.(6787-6789)Cga>Tga	p.R2263*	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2263					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CTATCAGCAGCGACTCCTTCA	0.577		NA	T,  N, F, Mis, O	MLL, RUNXBP2	colorectal, breast, pancreatic, AML, ALL, DLBCL				Rubinstein-Taybi syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		L, E	0													102	105	104			NA	NA	22		NA											NA				41574502		2203	4300	6503	SO:0001587	stop_gained	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393	2033	2033		Chromatin-modifying enzymes / K-acetyltransferases	3373	protein-coding gene	gene with protein product	histone acetyltransferase p300	602700			NA	7523245	Standard	NM_001429	NM_001429	NA	Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6787C>T	22.37:g.41574502C>T	ENSP00000263253:p.Arg2263*	NA	B1AKC2	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	52	19.910876	0.99925	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.5	2.03	0.26663	.	0.000000	0.41712	D	0.000835	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-7.9992	10.9807	0.47492	0.3487:0.5422:0.1091:0.0	.	.	.	.	X	2263	.	ENSP00000263253:R2263X	R	+	1	2	EP300	39904448	0.685000	0.27652	0.997000	0.53966	0.955000	0.61496	0.242000	0.18087	0.671000	0.31185	-0.941000	0.02677	CGA	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320600.1		+	ENST00000263253.7	Nonsense_Mutation	SNP	22 : 41574502 - 41574502 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	457	31
RAI1	10743	broad.mit.edu	37	17	17699003	17699003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17699003G>A	ENST00000353383.1	+	3	3210	c.2741G>A	c.(2740-2742)tGg>tAg	p.W914*	RAI1_ENST00000261641.6_Nonsense_Mutation_p.W914*	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	914						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AAGGCCGGCTGGGGCTCTCCG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	36	37			NA	NA	17		NA											NA				17699003		2203	4300	6503	SO:0001587	stop_gained			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557	10743	10743			9834	protein-coding gene	gene with protein product		607642	Smith-Magenis syndrome chromosome region	SMCR	NA	10036180	Standard	NM_030665	NM_030665	NA	Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.2741G>A	17.37:g.17699003G>A	ENSP00000323074:p.Trp914*	NA	Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	37	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	G	39	7.888434	0.98545	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	.	.	.	4.77	4.77	0.60923	.	0.381141	0.25132	N	0.032885	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	12.0033	0.53243	0.0:0.2341:0.7659:0.0	.	.	.	.	X	914;914;914;914;914;866	.	ENSP00000261641:W914X	W	+	2	0	RAI1	17639728	1.000000	0.71417	1.000000	0.80357	0.285000	0.27093	3.711000	0.54868	2.222000	0.72286	0.313000	0.20887	TGG	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131775.1		+	ENST00000353383.1	Nonsense_Mutation	SNP	17 : 17699003 - 17699003 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	44
MYH13	8735	broad.mit.edu	37	17	10227477	10227477	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10227477C>A	ENST00000418404.3	-	22	2959	c.2796G>T	c.(2794-2796)gaG>gaT	p.E932D	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.E932D			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	932					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTCCTCTTCCTCTTCCAATC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	143	142			NA	NA	17		NA											NA				10227477		2102	4237	6339	SO:0001583	missense			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788	8735	8735		Myosins / Myosin superfamily : Class II	7571	protein-coding gene	gene with protein product	extraocular muscle myosin heavy chain, extraocular myosin heavy chain	603487	myosin, heavy polypeptide 13, skeletal muscle		NA	9806854	Standard	NM_003802	NM_003802	NA	Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2796G>T	17.37:g.10227477C>A	ENSP00000404570:p.Glu932Asp	NA	O95252	37	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.708326	0.00712	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	D	0.93659	-3.26	4.37	0.881	0.19166	.	.	.	.	.	T	0.74959	0.3785	N	0.02181	-0.65	0.31291	N	0.689455	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.68217	-0.5467	9	0.02654	T	1	.	3.4732	0.07575	0.2993:0.305:0.0:0.3957	.	558;932	B4DFX9;Q9UKX3	.;MYH13_HUMAN	D	932;558	ENSP00000252172:E932D	ENSP00000252172:E932D	E	-	3	2	MYH13	10168202	0.999000	0.42202	0.992000	0.48379	0.162000	0.22319	0.779000	0.26746	0.107000	0.17824	-0.302000	0.09304	GAG	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442255.1		-	ENST00000418404.3	Missense_Mutation	SNP	17 : 10227477 - 10227477 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	73
SLC39A4	55630	broad.mit.edu	37	8	145640153	145640153	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145640153G>T	ENST00000276833.5	-	4	1160	c.857C>A	c.(856-858)tCc>tAc	p.S286Y	SLC39A4_ENST00000301305.3_Missense_Mutation_p.S311Y	NM_001280557.1|NM_017767.2	NP_001267486.1|NP_060237	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	311						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CCTGGACTGGGAGGTGCAGGC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	46	45			NA	NA	8		NA											NA				145640153		2203	4300	6503	SO:0001583	missense			AK025537	CCDS6424.1, CCDS43782.1	8q24.3	2013-05-22			ENSG00000147804	ENSG00000147804	55630	55630		Solute carriers	17129	protein-coding gene	gene with protein product		607059	acrodermatitis enteropathica, zinc-deficiency type	AEZ	NA	12801924, 12659941, 14709598	Standard		NM_017767	NA	Approved	ZIP4, AWMS2	uc003zcq.3	Q6P5W5		ENST00000276833.5:c.857C>A	8.37:g.145640153G>T	ENSP00000276833:p.Ser286Tyr	NA	Q7L5S5|Q9H6T8|Q9NXC4	37	CCDS43782.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.397820	0.25205	.	.	ENSG00000147804	ENST00000276833;ENST00000301305	T;T	0.61859	0.07;0.24	4.98	4.1	0.47936	.	1.088530	0.06917	N	0.808769	T	0.50990	0.1648	L	0.34521	1.04	0.09310	N	1	B;P	0.51653	0.012;0.947	B;P	0.47744	0.006;0.556	T	0.16748	-1.0392	10	0.06365	T	0.9	-17.042	11.0603	0.47944	0.0926:0.0:0.9074:0.0	.	311;286	Q6P5W5;A6NDY5	S39A4_HUMAN;.	Y	286;311	ENSP00000276833:S286Y;ENSP00000301305:S311Y	ENSP00000276833:S286Y	S	-	2	0	SLC39A4	145610961	0.000000	0.05858	0.255000	0.24374	0.009000	0.06853	0.145000	0.16157	1.115000	0.41800	0.543000	0.68304	TCC	SLC39A4-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382687.2		-	ENST00000276833.5	Missense_Mutation	SNP	8 : 145640153 - 145640153 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	487	78
PTPRM	5797	broad.mit.edu	37	18	8069961	8069961	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8069961C>A	ENST00000332175.8	+	8	2447	c.1410C>A	c.(1408-1410)agC>agA	p.S470R	PTPRM_ENST00000580170.1_Missense_Mutation_p.S470R|PTPRM_ENST00000400060.4_Missense_Mutation_p.S470R|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000444013.1_Missense_Mutation_p.S257R|PTPRM_ENST00000400053.4_Missense_Mutation_p.S408R	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	470	Fibronectin type-III 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GGAAGGAAAGCCAAGAACTCA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	75	81			NA	NA	18		NA											NA				8069961		2203	4300	6503	SO:0001583	missense			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482	5797	5797		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	9675	protein-coding gene	gene with protein product		176888		PTPRL1	NA	1655529, 8404049	Standard		NM_002845	NA	Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.1410C>A	18.37:g.8069961C>A	ENSP00000331418:p.Ser470Arg	NA	D3DUH8	37	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071031	0.76301	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.52	-5.01	0.02991	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73544	0.3600	M	0.74881	2.28	0.49687	D	0.999814	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.83275	0.996;0.992;0.992	T	0.75337	-0.3353	10	0.27785	T	0.31	.	17.3804	0.87403	0.0:0.7317:0.0:0.2683	.	257;470;470	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	R	470;470;408;257	ENSP00000331418:S470R;ENSP00000382933:S470R;ENSP00000382927:S408R;ENSP00000387608:S257R	ENSP00000331418:S470R	S	+	3	2	PTPRM	8059961	0.841000	0.29509	0.733000	0.30861	0.989000	0.77384	0.065000	0.14466	-0.815000	0.04346	-0.302000	0.09304	AGC	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254456.1		+	ENST00000332175.8	Missense_Mutation	SNP	18 : 8069961 - 8069961 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	163	24
PCDHGA8	9708	broad.mit.edu	37	5	140772663	140772663	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140772663C>A	ENST00000398604.2	+	1	283	c.283C>A	c.(283-285)Ctc>Atc	p.L95I	PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_032088.1	NP_114477.1			protocadherin gamma subfamily A, 8	NA										endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGGAGGAGCTCTGCGCTCA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	38	36			NA	NA	5		NA											NA				140772663		2167	4290	6457	SO:0001583	missense			AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767	9708	9708		Cadherins / Protocadherins : Clustered	8706	other	protocadherin		606295			NA	10380929	Standard	NM_032088	NM_014004	NA	Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.283C>A	5.37:g.140772663C>A	ENSP00000381605:p.Leu95Ile	NA		37	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	9.529	1.110383	0.20714	.	.	ENSG00000253767	ENST00000398604	T	0.39592	1.07	5.26	3.35	0.38373	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.351709	0.15671	U	0.250390	T	0.41351	0.1155	L	0.52126	1.63	0.25431	N	0.988188	B;B	0.25486	0.127;0.048	B;B	0.35971	0.215;0.096	T	0.33979	-0.9847	10	0.19147	T	0.46	.	13.2724	0.60167	0.3938:0.6062:0.0:0.0	.	95;95	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	I	95	ENSP00000381605:L95I	ENSP00000381605:L95I	L	+	1	0	PCDHGA8	140752847	0.974000	0.33945	1.000000	0.80357	0.888000	0.51559	0.579000	0.23788	1.210000	0.43336	0.655000	0.94253	CTC	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376972.1		+	ENST00000398604.2	Missense_Mutation	SNP	5 : 140772663 - 140772663 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	441	81
SNED1	25992	broad.mit.edu	37	2	241992580	241992580	+	Silent	SNP	C	C	T	rs147984954	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241992580C>T	ENST00000310397.8	+	16	2094	c.2094C>T	c.(2092-2094)tgC>tgT	p.C698C	SNED1_ENST00000405547.3_Silent_p.C698C|SNED1_ENST00000401884.1_Silent_p.C698C|SNED1_ENST00000342631.6_Silent_p.C698C|SNED1_ENST00000469006.1_3'UTR|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	698	Sushi.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		AGGTGGACTGCGGCCCCCCGG	0.711		NA											C	8	0.0037	0.02	NA	2184	NA	0.999	,	,	NA	3e-04	NA	NA	NA	0.0038	0.911	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				0								C		45,4103		0,45,2029	13	18	17		2094	-3.6	0.3	2	dbSNP_134	17	2,8348		0,2,4173	no	coding-synonymous	SNED1	NM_001080437.1		0,47,6202	TT,TC,CC	NA	0.024,1.0849,0.3761		698/1414	241992580	47,12451	2074	4175	6249	SO:0001819	synonymous_variant			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804	25992	25992		Fibronectin type III domain containing	24696	protein-coding gene	gene with protein product					NA	12477932	Standard	XM_059482	NM_001080437	NA	Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.2094C>T	2.37:g.241992580C>T		NA	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	37	CCDS46562.1																																																																																			SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323935.2		+	ENST00000310397.8	Silent	SNP	2 : 241992580 - 241992580 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	171	25
ZEB1	6935	broad.mit.edu	37	10	31810297	31810297	+	Missense_Mutation	SNP	A	A	C	rs146821579		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:31810297A>C	ENST00000320985.10	+	7	2144	c.2034A>C	c.(2032-2034)caA>caC	p.Q678H	ZEB1_ENST00000560721.2_Missense_Mutation_p.Q658H|ZEB1_ENST00000542815.3_Missense_Mutation_p.Q611H|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Missense_Mutation_p.Q679H|ZEB1_ENST00000446923.2_Missense_Mutation_p.Q662H			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	678					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TAAATCTACAAAGTCCTTTGA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(40;423 959 14296 36701 49589)							NA				0								A	HIS/GLN,HIS/GLN,HIS/GLN,HIS/GLN,HIS/GLN,HIS/GLN	0,4406		0,0,2203	74	66	69		1986,1974,1983,1833,2037,2034	-6	0	10	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	ZEB1	NM_001128128.2,NM_001174093.1,NM_001174094.1,NM_001174095.1,NM_001174096.1,NM_030751.5	24,24,24,24,24,24	0,1,6502	CC,CA,AA	NA	0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	662/1109,658/1105,661/1108,611/1058,679/1126,678/1125	31810297	1,13005	2203	4300	6503	SO:0001583	missense			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516	6935	6935		Zinc fingers, C2H2-type, Homeoboxes / ZF class	11642	protein-coding gene	gene with protein product		189909	transcription factor 8 (represses interleukin 2 expression), posterior polymorphous corneal dystrophy 3	TCF8, PPCD3	NA	1427828, 1840704, 15384081, 16252232	Standard	NM_030751	NM_001128128	NA	Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2034A>C	10.37:g.31810297A>C	ENSP00000319248:p.Gln678His	NA	Q12924|Q13800|Q5T968	37	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	A	4.696	0.129452	0.08981	0.0	1.16E-4	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000543514;ENST00000446923	T;T;T;T;T	0.12672	2.97;2.66;2.71;2.66;2.71	5.34	-6.03	0.02185	.	1.439760	0.04244	N	0.337441	T	0.18923	0.0454	L	0.51422	1.61	0.24957	N	0.991758	P;P;P;P;P;P;P;P	0.44478	0.836;0.755;0.761;0.761;0.641;0.748;0.761;0.761	P;P;B;B;B;B;B;B	0.47102	0.537;0.465;0.275;0.275;0.275;0.308;0.275;0.275	T	0.45131	-0.9282	10	0.62326	D	0.03	-3.8958	12.1316	0.53946	0.7633:0.0:0.1351:0.1016	.	611;678;662;678;678;658;679;678	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	H	460;678;679;678;611;678;658;537;569;662	ENSP00000444282:Q460H;ENSP00000354487:Q679H;ENSP00000444891:Q611H;ENSP00000319248:Q678H;ENSP00000391612:Q662H	ENSP00000319248:Q678H	Q	+	3	2	ZEB1	31850303	0.000000	0.05858	0.009000	0.14445	0.215000	0.24574	-1.025000	0.03600	-1.292000	0.02366	-0.242000	0.12053	CAA	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419083.2		+	ENST00000320985.10	Missense_Mutation	SNP	10 : 31810297 - 31810297 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	352	71
TRIO	7204	broad.mit.edu	37	5	14387901	14387901	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14387901C>T	ENST00000344204.4	+	23	3850	c.3826C>T	c.(3826-3828)Cga>Tga	p.R1276*	TRIO_ENST00000509967.2_Nonsense_Mutation_p.R1227*|TRIO_ENST00000537187.1_Nonsense_Mutation_p.R1276*	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1276					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GGTGAAACTTCGAGATGCTGC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	75	74			NA	NA	5		NA											NA				14387901		2203	4300	6503	SO:0001587	stop_gained			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382	7204	7204		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing	12303	protein-coding gene	gene with protein product		601893	triple functional domain (PTPRF interacting)		NA	8643598	Standard	NM_007118	NM_007118	NA	Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.3826C>T	5.37:g.14387901C>T	ENSP00000339299:p.Arg1276*	NA	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	37	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	43	10.396506	0.99397	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9732	0.97292	0.0:1.0:0.0:0.0	.	.	.	.	X	1276;1276;1227;963	.	ENSP00000339299:R1276X	R	+	1	2	TRIO	14440901	0.999000	0.42202	0.947000	0.38551	0.998000	0.95712	2.755000	0.47540	2.740000	0.93945	0.650000	0.86243	CGA	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253711.2		+	ENST00000344204.4	Nonsense_Mutation	SNP	5 : 14387901 - 14387901 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	52
SLC45A3	85414	broad.mit.edu	37	1	205628723	205628723	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205628723C>T	ENST00000367145.3	-	5	1596	c.1301G>A	c.(1300-1302)gGc>gAc	p.G434D	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	434					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AGGCTTAGGGCCTGGCAGGAA	0.622		NA	T	ETV1, ETV5, ELK4, ERG	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1q32	85414	solute carrier family 45, member 3		E	0													58	54	55			NA	NA	1		NA											NA				205628723		2203	4300	6503	SO:0001583	missense			AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715	85414	85414		Solute carriers	8642	protein-coding gene	gene with protein product		605097	prostate cancer associated protein 6, prostate cancer associated protein 2, prostate cancer associated protein 8	PCANAP6, PCANAP2, PCANAP8	NA	10613842, 11245466	Standard	NM_033102	XM_005245556	NA	Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.1301G>A	1.37:g.205628723C>T	ENSP00000356113:p.Gly434Asp	2153		37	CCDS1458.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.616403	0.46736	.	.	ENSG00000158715	ENST00000367145	T	0.43688	0.94	5.16	4.18	0.49190	.	0.216749	0.39020	N	0.001486	T	0.29524	0.0736	L	0.36672	1.1	0.40475	D	0.980389	B	0.10296	0.003	B	0.08055	0.003	T	0.13656	-1.0501	10	0.37606	T	0.19	-23.9536	7.154	0.25626	0.1717:0.7401:0.0:0.0882	.	434	Q96JT2	S45A3_HUMAN	D	434	ENSP00000356113:G434D	ENSP00000356113:G434D	G	-	2	0	SLC45A3	203895346	0.395000	0.25254	0.982000	0.44146	0.967000	0.64934	1.712000	0.37940	2.401000	0.81631	0.491000	0.48974	GGC	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090619.1		-	ENST00000367145.3	Missense_Mutation	SNP	1 : 205628723 - 205628723 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	45
AGAP6	414189	broad.mit.edu	37	10	51748543	51748543	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:51748543C>T	ENST00000412531.3	+	1	140	c.68C>T	c.(67-69)tCg>tTg	p.S23L	AGAP6_ENST00000374056.4_Missense_Mutation_p.S23L	NM_001077665.2	NP_001071133.2	C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	23					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CAGCAGGGGTCGGTGTGTCCC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense				CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149	414189	414189		ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing	23466	protein-coding gene	gene with protein product			centaurin, gamma-like family, member 3	CTGLF3	NA		Standard	NM_001077665	NM_001077665	NA	Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000412531.3:c.68C>T	10.37:g.51748543C>T	ENSP00000400972:p.Ser23Leu	NA		37	CCDS44397.1	.	.	.	.	.	.	.	.	.	.	C	0.060	-1.227393	0.01518	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	D;D	0.87966	-2.32;-2.32	1.16	1.16	0.20824	.	0.121832	0.53938	D	0.000058	T	0.69324	0.3098	N	0.12569	0.235	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.52873	-0.8517	10	0.18276	T	0.48	.	5.7414	0.18096	0.0:1.0:0.0:0.0	.	23	C9IYN2	.	L	23	ENSP00000363168:S23L;ENSP00000400972:S23L	ENSP00000363168:S23L	S	+	2	0	AGAP6	51418549	0.001000	0.12720	0.310000	0.25168	0.024000	0.10985	0.593000	0.23999	0.958000	0.37956	0.175000	0.17021	TCG	AGAP6-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048058.2		+	ENST00000412531.3	Missense_Mutation	SNP	10 : 51748543 - 51748543 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	398	99
PCDHA13	56136	broad.mit.edu	37	5	140308328	140308328	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140308328G>T	ENST00000409494.1	+	1	2455				PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.E617D|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHAC1_ENST00000253807.2_Missense_Mutation_p.E617D|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron	NM_031865.1	NP_114071.1			protocadherin alpha 13	NA										NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATATAGGTGAGCTCCGTACTG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(147;1739 1852 5500 27947 37288)							NA				0													88	87	87			NA	NA	5		NA											NA				140308328		2203	4300	6503	SO:0001627	intron_variant			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389	56136	56136		Cadherins / Protocadherins : Clustered	8667	other	complex locus constituent	KIAA0345-like 1, ortholog of mouse CNR5	606319		CNRS5	NA	10380929, 10662547	Standard	NM_018904	NM_018904	NA	Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000409494.1:c.2394+44081G>T	5.37:g.140308328G>T		NA		37		.	.	.	.	.	.	.	.	.	.	G	12.13	1.845520	0.32606	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.50813	0.73;0.73	5.95	3.21	0.36854	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.71108	0.3301	M	0.86097	2.795	0.25743	N	0.985136	D;D	0.89917	0.999;1.0	D;D	0.87578	0.993;0.998	T	0.64927	-0.6292	9	0.59425	D	0.04	.	13.826	0.63351	0.1851:0.0:0.8149:0.0	.	617;617	Q9H158;Q9H158-2	PCDC1_HUMAN;.	D	617	ENSP00000386356:E617D;ENSP00000253807:E617D	ENSP00000253807:E617D	E	+	3	2	PCDHAC1	140288512	1.000000	0.71417	0.994000	0.49952	0.199000	0.23934	1.002000	0.29796	0.139000	0.18822	-1.119000	0.02030	GAG	PCDHA13-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000251809.2		+	ENST00000409494.1	Intron	SNP	5 : 140308328 - 140308328 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	89
USP35	57558	broad.mit.edu	37	11	77920696	77920696	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77920696G>A	ENST00000529308.1	+	10	2056	c.1795G>A	c.(1795-1797)Gcc>Acc	p.A599T	USP35_ENST00000526425.1_Missense_Mutation_p.A330T|USP35_ENST00000441408.2_Missense_Mutation_p.A185T|USP35_ENST00000530267.1_Missense_Mutation_p.A167T|USP35_ENST00000530535.1_3'UTR	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	599					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CCTCTCTCTCGCCTTCCCTCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	63	61			NA	NA	11		NA											NA				77920696		2039	4189	6228	SO:0001583	missense			AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369	57558	57558		Ubiquitin-specific peptidases	20061	protein-coding gene	gene with protein product			ubiquitin specific protease 35		NA	12838346	Standard	XM_290527	NM_020798	NA	Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1795G>A	11.37:g.77920696G>A	ENSP00000431876:p.Ala599Thr	NA		37	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	g	25.3	4.625284	0.87560	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T	0.05513	3.43;3.43;3.43;3.43	4.52	4.52	0.55395	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000014	T	0.18635	0.0447	L	0.41356	1.27	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.01105	-1.1450	10	0.87932	D	0	-28.2008	17.4436	0.87572	0.0:0.0:1.0:0.0	.	599;185	Q9P2H5;E7EWV7	UBP35_HUMAN;.	T	167;599;185;330	ENSP00000435468:A167T;ENSP00000431876:A599T;ENSP00000400825:A185T;ENSP00000434942:A330T	ENSP00000400825:A185T	A	+	1	0	USP35	77598344	1.000000	0.71417	0.164000	0.22755	0.950000	0.60333	9.647000	0.98478	2.338000	0.79540	0.461000	0.40582	GCC	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390026.1		+	ENST00000529308.1	Missense_Mutation	SNP	11 : 77920696 - 77920696 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	772	36
ZUFSP	221302	broad.mit.edu	37	6	116968670	116968670	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116968670G>T	ENST00000368576.3	-	8	1663	c.1420C>A	c.(1420-1422)Cca>Aca	p.P474T		NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	474						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		ACTACCTTTGGACTCCCTTCT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	129	127			NA	NA	6		NA											NA				116968670		2203	4300	6503	SO:0001583	missense			AK054582	CCDS5110.1	6q22.31	2013-01-28	2008-03-25	2008-03-25	ENSG00000153975	ENSG00000153975	221302	221302		Zinc fingers, C2H2-type	21224	protein-coding gene	gene with protein product			chromosome 6 open reading frame 113	C6orf113	NA		Standard	NM_145062	NM_145062	NA	Approved	dJ412I7.3	uc003pxf.2	Q96AP4	OTTHUMG00000015445	ENST00000368576.3:c.1420C>A	6.37:g.116968670G>T	ENSP00000357565:p.Pro474Thr	NA	Q5TD92|Q6PJH7|Q96NV6	37	CCDS5110.1	.	.	.	.	.	.	.	.	.	.	G	4.116	0.019786	0.08006	.	.	ENSG00000153975	ENST00000368576	T	0.28255	1.62	5.28	1.43	0.22495	.	0.488081	0.22018	N	0.065772	T	0.07593	0.0191	L	0.46157	1.445	0.22240	N	0.99927	B	0.21381	0.055	B	0.18263	0.021	T	0.39683	-0.9602	10	0.17832	T	0.49	-3.6716	5.8903	0.18909	0.2433:0.3319:0.4247:0.0	.	474	Q96AP4	ZUFSP_HUMAN	T	474	ENSP00000357565:P474T	ENSP00000357565:P474T	P	-	1	0	ZUFSP	117075363	0.995000	0.38212	0.014000	0.15608	0.352000	0.29268	0.566000	0.23593	-0.026000	0.13895	-0.657000	0.03884	CCA	ZUFSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041961.1		-	ENST00000368576.3	Missense_Mutation	SNP	6 : 116968670 - 116968670 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	494	79
AHCYL2	23382	broad.mit.edu	37	7	129019543	129019543	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:129019543C>T	ENST00000325006.3	+	2	482	c.428C>T	c.(427-429)tCt>tTt	p.S143F	AHCYL2_ENST00000490911.1_Missense_Mutation_p.S40F|AHCYL2_ENST00000531335.2_Missense_Mutation_p.S62F|AHCYL2_ENST00000446212.1_Missense_Mutation_p.S41F|AHCYL2_ENST00000474594.1_Missense_Mutation_p.S40F|AHCYL2_ENST00000446544.2_Missense_Mutation_p.S142F	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	143					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GGACGTCGCTCTTTGTCTCGT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(160;1736 1964 29875 40941 45605)							NA				0													110	94	99			NA	NA	7		NA											NA				129019543		2203	4300	6503	SO:0001583	missense			AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467	23382	23382			22204	protein-coding gene	gene with protein product			S-adenosylhomocysteine hydrolase-like 2		NA		Standard		NM_001130720	NA	Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.428C>T	7.37:g.129019543C>T	ENSP00000315931:p.Ser143Phe	NA	O94917	37	CCDS5812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.8|29.8	5.035825|5.035825	0.93630|0.93630	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000466924|ENST00000325006;ENST00000446544;ENST00000531335;ENST00000460109;ENST00000474594;ENST00000446212;ENST00000490911;ENST00000466993	.|T;T;T;T;T;T;T	.|0.78481	.|-1.18;-1.18;-1.14;-1.12;-1.12;-1.12;-0.89	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83073|0.83073	0.5175|0.5175	L|L	0.34521|0.34521	1.04|1.04	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D;D;D;D	.|0.76494	.|0.987;0.987;0.999;0.987;0.999	.|P;P;D;P;D	.|0.72338	.|0.878;0.878;0.949;0.878;0.977	D|D	0.85057|0.85057	0.0932|0.0932	5|10	.|0.87932	.|D	.|0	-14.9057|-14.9057	18.0999|18.0999	0.89503|0.89503	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|40;41;143;40;142	.|B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2	.|.;.;SAHH3_HUMAN;.;.	F|F	50|143;142;62;41;40;41;40;41	.|ENSP00000315931:S143F;ENSP00000413639:S142F;ENSP00000431787:S62F;ENSP00000420459:S40F;ENSP00000405267:S41F;ENSP00000420801:S40F;ENSP00000419608:S41F	.|ENSP00000315931:S143F	L|S	+|+	1|2	0|0	AHCYL2|AHCYL2	128806779|128806779	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.696000|7.696000	0.84270|0.84270	2.527000|2.527000	0.85204|0.85204	0.555000|0.555000	0.69702|0.69702	CTT|TCT	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354065.1		+	ENST00000325006.3	Missense_Mutation	SNP	7 : 129019543 - 129019543 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	222	38
CTR9	9646	broad.mit.edu	37	11	10772966	10772966	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10772966C>T	ENST00000361367.2	+	1	433	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	3					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CATCATGTCGCGGGGCTCCAT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	44	44			NA	NA	11		NA											NA				10772966		2200	4294	6494	SO:0001583	missense			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730	9646	9646		Tetratricopeptide (TTC) repeat domain containing	16850	protein-coding gene	gene with protein product		609366	SH2 domain binding protein 1 (tetratricopeptide repeat containing), Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	SH2BP1	NA	8590280, 8636124	Standard	NM_014633	NM_014633	NA	Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.7C>T	11.37:g.10772966C>T	ENSP00000355013:p.Arg3Trp	NA	D3DQV8|Q15015	37	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	C	37	6.108579	0.97291	.	.	ENSG00000198730	ENST00000361367	T	0.48201	0.82	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.30978	0.0782	N	0.08118	0	0.80722	D	1	D	0.56287	0.975	B	0.39876	0.312	T	0.36890	-0.9729	10	0.72032	D	0.01	-13.286	18.1653	0.89723	0.0:1.0:0.0:0.0	.	3	Q6PD62	CTR9_HUMAN	W	3	ENSP00000355013:R3W	ENSP00000355013:R3W	R	+	1	2	CTR9	10729542	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.155000	0.77445	2.805000	0.96524	0.650000	0.86243	CGG	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386215.1		+	ENST00000361367.2	Missense_Mutation	SNP	11 : 10772966 - 10772966 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	186	41
SDF2L1	23753	broad.mit.edu	37	22	21998296	21998296	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21998296C>T	ENST00000248958.4	+	3	574	c.498C>T	c.(496-498)ggC>ggT	p.G166G		NM_022044.2	NP_071327.2	Q9HCN8	SDF2L_HUMAN	stromal cell-derived factor 2-like 1	166	MIR 3.					endoplasmic reticulum lumen|membrane				prostate(1)	1	Colorectal(54;0.105)					AGCATGTGGGCACCTCTGTGT	0.622		NA									OREG0026342	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	79	92			NA	NA	22		NA											NA				21998296		2203	4300	6503	SO:0001819	synonymous_variant				CCDS13792.1	22q11.21	2008-07-01			ENSG00000128228	ENSG00000128228	23753	23753			10676	protein-coding gene	gene with protein product	dihydropyrimidinase-like 2, PWP1-interacting protein 8	607551			NA	10591208, 11162531	Standard	NM_022044	NM_022044	NA	Approved	AP000553.C22.4, OTTHUMT00000075032	uc002zvf.3	Q9HCN8	OTTHUMG00000150820	ENST00000248958.4:c.498C>T	22.37:g.21998296C>T		752	A2RUD3|Q9BRI5	37	CCDS13792.1																																																																																			SDF2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320197.1		+	ENST00000248958.4	Silent	SNP	22 : 21998296 - 21998296 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	216	31
NOC3L	64318	broad.mit.edu	37	10	96100033	96100033	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96100033C>A	ENST00000371361.3	-	16	1880	c.1780G>T	c.(1780-1782)Ggt>Tgt	p.G594C	NOC3L_ENST00000371350.1_Splice_Site_p.G594C|NOC3L_ENST00000543788.1_Splice_Site_p.G332C	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	594						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				ACATACATACCTGCATGTAAT	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	92	93			NA	NA	10		NA											NA				96100033		2203	4298	6501	SO:0001630	splice_region_variant			AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145	64318	64318			24034	protein-coding gene	gene with protein product		610769	chromosome 10 open reading frame 117	C10orf117	NA	15564382	Standard	NM_022451	NM_022451	NA	Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.1780+1G>T	10.37:g.96100033C>A		NA	Q9H5M6|Q9H9D8	37	CCDS7433.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344627	0.82022	.	.	ENSG00000173145	ENST00000543788;ENST00000371361;ENST00000371350	T;T;T	0.30981	1.98;1.51;1.51	5.19	5.19	0.71726	CCAAT-binding factor (1);	0.000000	0.85682	D	0.000000	T	0.57961	0.2089	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57734	-0.7760	9	.	.	.	-12.8635	19.0883	0.93215	0.0:1.0:0.0:0.0	.	594	Q8WTT2	NOC3L_HUMAN	C	332;594;594	ENSP00000437838:G332C;ENSP00000360412:G594C;ENSP00000360401:G594C	.	G	-	1	0	NOC3L	96090023	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.626000	0.67777	2.596000	0.87737	0.655000	0.94253	GGT	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049466.1	Missense_Mutation	-	ENST00000371361.3	Splice_Site	SNP	10 : 96100033 - 96100033 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	229	34
PKHD1L1	93035	broad.mit.edu	37	8	110509151	110509151	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110509151A>C	ENST00000378402.5	+	64	10435	c.10331A>C	c.(10330-10332)cAg>cCg	p.Q3444P		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3444					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTCCAAGGCCAGTTTAATCCT	0.353		NA								HNSCC(38;0.096)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	135	138			NA	NA	8		NA											NA				110509151		1809	4077	5886	SO:0001583	missense			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038	93035	93035			20313	protein-coding gene	gene with protein product		607843			NA	12620974	Standard	NM_177531	NM_177531	NA	Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.10331A>C	8.37:g.110509151A>C	ENSP00000367655:p.Gln3444Pro	NA	Q567P2|Q9UF27	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	5.872	0.345001	0.11126	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	T;T	0.80480	-1.38;-1.38	5.64	1.7	0.24286	Pectin lyase fold/virulence factor (1);	0.537282	0.18922	N	0.127454	T	0.70684	0.3252	L	0.51422	1.61	0.09310	N	1	B	0.12013	0.005	B	0.16722	0.016	T	0.56601	-0.7952	10	0.33141	T	0.24	.	5.5863	0.17277	0.5405:0.1574:0.0:0.3021	.	3444	Q86WI1	PKHL1_HUMAN	P	3444;372	ENSP00000367655:Q3444P;ENSP00000437376:Q372P	ENSP00000367655:Q3444P	Q	+	2	0	PKHD1L1	110578327	0.180000	0.23148	0.176000	0.23000	0.438000	0.31896	0.570000	0.23653	0.044000	0.15775	0.528000	0.53228	CAG	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381017.1		+	ENST00000378402.5	Missense_Mutation	SNP	8 : 110509151 - 110509151 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	452	72
SIPA1L1	26037	broad.mit.edu	37	14	72204965	72204965	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:72204965G>T	ENST00000358550.2	+	20	6078	c.5128G>T	c.(5128-5130)Gac>Tac	p.D1710Y	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.D1185Y|SIPA1L1_ENST00000555818.1_Missense_Mutation_p.D1732Y|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.D1711Y	NM_001284246.1	NP_001271175.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1732					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CAGCAGTAAAGACTCCTCTCC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	84	87			NA	NA	14		NA											NA				72204965		2203	4300	6503	SO:0001583	missense			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555	26037	26037			20284	protein-coding gene	gene with protein product					NA	9858596	Standard	NM_015556	XM_005267514	NA	Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000358550.2:c.5128G>T	14.37:g.72204965G>T	ENSP00000351352:p.Asp1710Tyr	NA	O95321|Q9UDU4|Q9UNU4	37		.	.	.	.	.	.	.	.	.	.	G	16.76	3.211485	0.58343	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.92	5.03	0.67393	.	0.134229	0.64402	D	0.000003	T	0.41213	0.1149	L	0.36672	1.1	0.51767	D	0.999936	B;P;B;B;D	0.54397	0.374;0.896;0.389;0.374;0.966	B;P;B;B;P	0.57204	0.203;0.701;0.369;0.203;0.815	T	0.33979	-0.9847	10	0.72032	D	0.01	-18.8942	15.3804	0.74651	0.0668:0.0:0.9332:0.0	.	1185;1731;1185;1711;1732	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	Y	1711;1732;1710;1185	ENSP00000370630:D1711Y;ENSP00000450832:D1732Y;ENSP00000351352:D1710Y;ENSP00000440682:D1185Y	ENSP00000351352:D1732Y	D	+	1	0	SIPA1L1	71274718	1.000000	0.71417	0.994000	0.49952	0.885000	0.51271	7.087000	0.76893	1.521000	0.48983	0.561000	0.74099	GAC	SIPA1L1-001	NOVEL	NAGNAG_splice_site|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000412807.1		+	ENST00000358550.2	Missense_Mutation	SNP	14 : 72204965 - 72204965 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	284	42
TRPM1	4308	broad.mit.edu	37	15	31334348	31334348	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31334348C>A	ENST00000397795.2	-	16	1940	c.1827G>T	c.(1825-1827)caG>caT	p.Q609H	TRPM1_ENST00000542188.1_Missense_Mutation_p.Q648H|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Missense_Mutation_p.Q631H	NM_002420.5	NP_002411.3	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	609					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	p.Q609Q(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGAAGGGATACTGGAACCGAC	0.527		NA												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)											68	75	73			NA	NA	15		NA											NA				31334348		2177	4286	6463	SO:0001583	missense			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160	4308	4308		Voltage-gated ion channels / Transient receptor potential cation channels	7146	protein-coding gene	gene with protein product		603576	melastatin 1	MLSN1	NA	9806836, 9537257, 16382100	Standard	NM_002420	NM_001252020	NA	Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000397795.2:c.1827G>T	15.37:g.31334348C>A	ENSP00000380897:p.Gln609His	NA	O75560|Q7Z4N1|Q7Z4N3|Q7Z4N4|Q7Z4N5	37	CCDS10024.2	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010980	0.35511	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.72505	-0.66;-0.66;-0.66	4.72	2.78	0.32641	.	0.179366	0.50627	D	0.000115	T	0.53916	0.1826	N	0.17474	0.49	0.45464	D	0.998439	B;B	0.14012	0.009;0.005	B;B	0.17433	0.018;0.008	T	0.54840	-0.8233	10	0.72032	D	0.01	-16.7394	11.5534	0.50733	0.0:0.8441:0.0:0.1559	.	603;609	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	H	609;648;631;609	ENSP00000380897:Q609H;ENSP00000437849:Q648H;ENSP00000256552:Q631H	ENSP00000256552:Q631H	Q	-	3	2	TRPM1	29121640	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	0.916000	0.28651	1.083000	0.41159	0.655000	0.94253	CAG	TRPM1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251378.1		-	ENST00000397795.2	Missense_Mutation	SNP	15 : 31334348 - 31334348 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	212	10
TEP1	7011	broad.mit.edu	37	14	20841224	20841224	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20841224A>G	ENST00000556935.1	-	46	6612	c.6573T>C	c.(6571-6573)aaT>aaC	p.N2191N	TEP1_ENST00000545983.1_Silent_p.N637N|TEP1_ENST00000262715.5_Silent_p.N2299N			Q99973	TEP1_HUMAN	telomerase-associated protein 1	2299					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCCCAGCTTGATTTCCAGATA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	76	76			NA	NA	14		NA											NA				20841224		2203	4300	6503	SO:0001819	synonymous_variant				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566	7011	7011		WD repeat domain containing	11726	protein-coding gene	gene with protein product	TROVE domain family, member 1	601686			NA	9403057	Standard	NM_007110	NM_007110	NA	Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000556935.1:c.6573T>C	14.37:g.20841224A>G		NA	A0AUV9	37		.	.	.	.	.	.	.	.	.	.	A	8.398	0.841223	0.16891	.	.	ENSG00000129566	ENST00000553984	.	.	.	5.77	2.15	0.27550	.	.	.	.	.	T	0.31389	0.0795	.	.	.	0.27235	N	0.959305	.	.	.	.	.	.	T	0.21759	-1.0236	4	.	.	.	-8.6531	5.7984	0.18399	0.6254:0.0:0.3746:0.0	.	.	.	.	P	6	.	.	S	-	1	0	TEP1	19911064	0.199000	0.23386	0.366000	0.25914	0.978000	0.69477	0.583000	0.23849	0.469000	0.27268	-0.250000	0.11733	TCA	TEP1-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000410689.1		-	ENST00000556935.1	Silent	SNP	14 : 20841224 - 20841224 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	429	73
KIF26A	26153	broad.mit.edu	37	14	104642801	104642801	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:104642801G>A	ENST00000315264.7	+	11	3637	c.3259G>A	c.(3259-3261)Gct>Act	p.A1087T	KIF26A_ENST00000423312.2_Missense_Mutation_p.A1226T			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1226					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		TGTGGGCTGTGCTCGCCTGGG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	25	23			NA	NA	14		NA											NA				104642801		2020	4160	6180	SO:0001583	missense			AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735	26153	26153		Kinesins	20226	protein-coding gene	gene with protein product		613231			NA	10574462, 11416179	Standard		NM_015656	NA	Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000315264.7:c.3259G>A	14.37:g.104642801G>A	ENSP00000325452:p.Ala1087Thr	NA	Q8TAZ7|Q96GK3|Q9UFL3	37		.	.	.	.	.	.	.	.	.	.	G	0.070	-1.204088	0.01581	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.77877	-1.13;-1.12	3.23	-6.45	0.01914	.	.	.	.	.	T	0.59032	0.2164	L	0.38531	1.155	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33240	-0.9876	9	0.21014	T	0.42	.	4.4235	0.11492	0.2471:0.1681:0.5003:0.0846	.	1226	Q9ULI4	KI26A_HUMAN	T	1226;1087	ENSP00000388241:A1226T;ENSP00000325452:A1087T	ENSP00000325452:A1087T	A	+	1	0	KIF26A	103712554	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.406000	0.21032	-2.983000	0.00282	-1.021000	0.02439	GCT	KIF26A-001	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000337893.2		+	ENST00000315264.7	Missense_Mutation	SNP	14 : 104642801 - 104642801 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	231	46
GAP43	2596	broad.mit.edu	37	3	115395285	115395285	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:115395285G>A	ENST00000393780.3	+	3	1032	c.564G>A	c.(562-564)ccG>ccA	p.P188P	GAP43_ENST00000305124.6_Silent_p.P152P	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	152					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		ATAACTCGCCGTCCTCCAAGG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	40	39			NA	NA	3		NA											NA				115395285		2203	4298	6501	SO:0001819	synonymous_variant				CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020	2596	2596			4140	protein-coding gene	gene with protein product	neuron growth-associated protein 43, neuromodulin, nerve growth-related peptide GAP43, axonal membrane protein GAP-43, protein F1, calmodulin-binding protein P-57, neural phosphoprotein B-50	162060			NA	3272162, 8231732	Standard	NM_002045	NM_002045	NA	Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000393780.3:c.564G>A	3.37:g.115395285G>A		NA		37	CCDS46890.1																																																																																			GAP43-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258217.2		+	ENST00000393780.3	Silent	SNP	3 : 115395285 - 115395285 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	278	59
KIAA1217	56243	broad.mit.edu	37	10	24820880	24820880	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24820880C>T	ENST00000307544.6	+	10	2585	c.2253C>T	c.(2251-2253)ggC>ggT	p.G751G	KIAA1217_ENST00000396446.1_Silent_p.G751G|KIAA1217_ENST00000396445.1_Silent_p.G751G|KIAA1217_ENST00000376454.3_Silent_p.G1068G|KIAA1217_ENST00000376451.2_Silent_p.G751G|KIAA1217_ENST00000458595.1_Silent_p.G1033G|KIAA1217_ENST00000376462.1_Silent_p.G988G|KIAA1217_ENST00000376452.3_Silent_p.G1032G	NM_001282769.1	NP_001269698.1	Q5T5P2	SKT_HUMAN	KIAA1217	1068					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CGAGGTCAGGCGATGTGGTCT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	53	58			NA	NA	10		NA											NA				24820880		2203	4300	6503	SO:0001819	synonymous_variant			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549	56243	56243			25428	protein-coding gene	gene with protein product	sickle tail				NA	10574462	Standard	NM_019590	XM_005252500	NA	Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000307544.6:c.2253C>T	10.37:g.24820880C>T		NA	A5LHW9|A6PVQ5|A6PVQ6|A6PVQ7|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	37																																																																																				KIAA1217-001	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000047220.2		+	ENST00000307544.6	Silent	SNP	10 : 24820880 - 24820880 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	255	21
GBA2	57704	broad.mit.edu	37	9	35737268	35737268	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35737268C>T	ENST00000378103.3	-	17	3205	c.2682G>A	c.(2680-2682)caG>caA	p.Q894Q	GBA2_ENST00000378088.1_3'UTR|GBA2_ENST00000545786.1_Silent_p.Q900Q|GBA2_ENST00000378094.4_3'UTR	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	894					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCTTTTTGTGCTGCTGCTGTT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	88	91			NA	NA	9		NA											NA				35737268		2203	4300	6503	SO:0001819	synonymous_variant			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610	57704	57704			18986	protein-coding gene	gene with protein product	bile acid beta-glucosidase, non-lysosomal glucosylceramidase	609471	spastic paraplegia 46 (autosomal recessive)	SPG46	NA	11489889, 23332916, 23332917	Standard	NM_020944	NM_020944	NA	Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.2682G>A	9.37:g.35737268C>T		NA	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	37	CCDS6589.1																																																																																			GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055456.1		-	ENST00000378103.3	Silent	SNP	9 : 35737268 - 35737268 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	556	80
NRP2	8828	broad.mit.edu	37	2	206590675	206590675	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206590675C>T	ENST00000360409.3	+	6	1650	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	NRP2_ENST00000412873.2_Missense_Mutation_p.R287W|NRP2_ENST00000355117.4_Missense_Mutation_p.R287W|NRP2_ENST00000417189.1_Missense_Mutation_p.R287W|NRP2_ENST00000272849.3_Missense_Mutation_p.R287W|NRP2_ENST00000357785.5_Missense_Mutation_p.R287W|NRP2_ENST00000357118.4_Missense_Mutation_p.R287W|NRP2_ENST00000540178.1_Missense_Mutation_p.R287W|NRP2_ENST00000540841.1_Missense_Mutation_p.R287W	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	287	F5/8 type C 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GGAGTCTGGCCGGATTGCTAA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	116	124			NA	NA	2		NA											NA				206590675		2203	4300	6503	SO:0001583	missense			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257	8828	8828			8005	protein-coding gene	gene with protein product		602070			NA	9529250, 9331348	Standard		NM_003872	NA	Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000360409.3:c.859C>T	2.37:g.206590675C>T	ENSP00000353582:p.Arg287Trp	NA	O14820|O14821|Q53TQ4|Q53TS3|Q9H2D4|Q9H2D5|Q9H2E3|Q9H2E4	37	CCDS2364.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650759	0.67472	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	D;D;D;D;D;D;D;D;D	0.97328	-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34	6.07	1.69	0.24217	Coagulation factor 5/8 C-terminal type domain (2);Galactose-binding domain-like (1);	0.047005	0.85682	D	0.000000	D	0.97294	0.9115	L	0.56124	1.755	0.51012	D	0.999905	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.74023	0.963;0.963;0.982;0.98;0.98;0.919	D	0.96444	0.9329	10	0.66056	D	0.02	-15.2974	12.0479	0.53491	0.3823:0.5536:0.0:0.064	.	287;287;287;287;287;287	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	W	287	ENSP00000353582:R287W;ENSP00000439658:R287W;ENSP00000439261:R287W;ENSP00000347238:R287W;ENSP00000387519:R287W;ENSP00000349632:R287W;ENSP00000350432:R287W;ENSP00000407626:R287W;ENSP00000272849:R287W	ENSP00000272849:R287W	R	+	1	2	NRP2	206298920	0.998000	0.40836	1.000000	0.80357	0.788000	0.44548	1.166000	0.31834	0.387000	0.25024	-0.136000	0.14681	CGG	NRP2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256392.1		+	ENST00000360409.3	Missense_Mutation	SNP	2 : 206590675 - 206590675 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	367	28
HELZ2	85441	broad.mit.edu	37	20	62200677	62200677	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62200677G>A	ENST00000467148.1	-	4	981	c.912C>T	c.(910-912)ggC>ggT	p.G304G		NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator	NA											NA						TCCGCTCCACGCCAGGCACCA	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	20	20			NA	NA	20		NA											NA				62200677		2185	4292	6477	SO:0001819	synonymous_variant			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589	85441	85441			30021	protein-coding gene	gene with protein product	peroxisomal proliferator activated receptor A interacting complex 285, PPARG-DBD-interacting protein 1	611265			NA	11214970, 12189208, 16239304	Standard	NM_001037335	NM_001037335	NA	Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.912C>T	20.37:g.62200677G>A		NA		37	CCDS33508.1																																																																																			HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354127.1		-	ENST00000467148.1	Silent	SNP	20 : 62200677 - 62200677 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	109	23
MAP3K4	4216	broad.mit.edu	37	6	161470912	161470912	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161470912G>A	ENST00000392142.4	+	3	1756	c.1608G>A	c.(1606-1608)caG>caA	p.Q536Q	MAP3K4_ENST00000348824.7_Silent_p.Q536Q|MAP3K4_ENST00000366919.2_Silent_p.Q536Q|MAP3K4_ENST00000366920.2_Silent_p.Q536Q	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	536					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CACTGAAGCAGATGGGGTTAA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	85	83			NA	NA	6		NA											NA				161470912		2203	4300	6503	SO:0001819	synonymous_variant			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511	4216	4216		Mitogen-activated protein kinase cascade / Kinase kinase kinases	6856	protein-coding gene	gene with protein product		602425		MEKK4	NA	9305639	Standard		XM_005266988	NA	Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.1608G>A	6.37:g.161470912G>A		NA	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	37	CCDS34565.1																																																																																			MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042988.3		+	ENST00000392142.4	Silent	SNP	6 : 161470912 - 161470912 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	415	80
FBXL13	222235	broad.mit.edu	37	7	102524065	102524065	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102524065C>T	ENST00000393772.2	-	13	1601	c.1175G>A	c.(1174-1176)tGt>tAt	p.C392Y	FBXL13_ENST00000436908.1_Missense_Mutation_p.C392Y|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000379305.3_Missense_Mutation_p.C392Y|FBXL13_ENST00000313221.4_Missense_Mutation_p.C392Y|FBXL13_ENST00000455112.2_Missense_Mutation_p.C392Y|FBXL13_ENST00000379308.3_Missense_Mutation_p.C392Y|FBXL13_ENST00000379306.3_Intron			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	392										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TCTGAAAGTACAATCGGAGAT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	63	62			NA	NA	7		NA											NA				102524065		2203	4300	6503	SO:0001583	missense			BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040	222235	222235		F-boxes / Leucine-rich repeats	21658	protein-coding gene	gene with protein product		609080			NA		Standard	NM_145032	NM_145032	NA	Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000393772.2:c.1175G>A	7.37:g.102524065C>T	ENSP00000377367:p.Cys392Tyr	NA	C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	37		.	.	.	.	.	.	.	.	.	.	C	0.006	-2.086948	0.00367	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000455112	T;T;T;T;T;T	0.02323	4.34;4.34;4.34;4.34;4.34;4.34	5.12	-3.21	0.05140	.	2.163390	0.01497	N	0.017337	T	0.02156	0.0067	N	0.22421	0.69	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.09377	0.004;0.004;0.002	T	0.46119	-0.9214	10	0.45353	T	0.12	.	0.4513	0.00501	0.2894:0.1769:0.2975:0.2363	.	392;392;392	Q8NEE6-3;Q8NEE6-2;Q8NEE6	.;.;FXL13_HUMAN	Y	392	ENSP00000377367:C392Y;ENSP00000368610:C392Y;ENSP00000368607:C392Y;ENSP00000388608:C392Y;ENSP00000321927:C392Y;ENSP00000391550:C392Y	ENSP00000321927:C392Y	C	-	2	0	FBXL13	102311301	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	0.090000	0.15025	-0.238000	0.09724	0.655000	0.94253	TGT	FBXL13-203	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000348003.1		-	ENST00000393772.2	Missense_Mutation	SNP	7 : 102524065 - 102524065 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	311	54
BMP7	655	broad.mit.edu	37	20	55746142	55746142	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:55746142G>A	ENST00000395863.3	-	7	1674	c.1169C>T	c.(1168-1170)aCg>aTg	p.T390M	BMP7_ENST00000395864.3_Missense_Mutation_p.T324M|BMP7_ENST00000460817.1_5'UTR	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	390					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CTTGGGCACCGTTTCCGGGTT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	86	92			NA	NA	20		NA											NA				55746142		2203	4300	6503	SO:0001583	missense				CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144	655	655		Bone morphogenetic proteins, Endogenous ligands	1074	protein-coding gene	gene with protein product	osteogenic protein 1	112267			NA	1427904	Standard		NM_001719	NA	Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.1169C>T	20.37:g.55746142G>A	ENSP00000379204:p.Thr390Met	NA	Q9H512|Q9NTQ7	37	CCDS13455.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230581	0.79688	.	.	ENSG00000101144	ENST00000395863;ENST00000395864	D;D	0.84070	-1.8;-1.8	5.21	5.21	0.72293	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.86075	0.5846	L	0.43923	1.385	0.80722	D	1	D;D	0.63880	0.993;0.989	P;P	0.56960	0.81;0.743	D	0.85892	0.1429	10	0.44086	T	0.13	.	18.7685	0.91882	0.0:0.0:1.0:0.0	.	324;390	B1AKZ9;P18075	.;BMP7_HUMAN	M	390;324	ENSP00000379204:T390M;ENSP00000379205:T324M	ENSP00000379204:T390M	T	-	2	0	BMP7	55179549	0.999000	0.42202	0.200000	0.23457	0.965000	0.64279	3.270000	0.51600	2.415000	0.81967	0.655000	0.94253	ACG	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079831.2		-	ENST00000395863.3	Missense_Mutation	SNP	20 : 55746142 - 55746142 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	297	56
LEPR	3953	broad.mit.edu	37	1	66058449	66058449	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:66058449A>C	ENST00000349533.6	+	6	789	c.604A>C	c.(604-606)Aca>Cca	p.T202P	LEPR_ENST00000344610.8_Missense_Mutation_p.T202P|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371060.3_Missense_Mutation_p.T202P|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371058.1_Missense_Mutation_p.T202P|LEPR_ENST00000371059.3_Missense_Mutation_p.T202P	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	202					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GCCTGTGCCAACAGCCAAACT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	134	139			NA	NA	1		NA											NA				66058449		2203	4300	6503	SO:0001583	missense			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678	3953	3953		CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	6554	protein-coding gene	gene with protein product		601007			NA	8548812, 8812446	Standard	NM_002303	NM_001003680	NA	Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.604A>C	1.37:g.66058449A>C	ENSP00000330393:p.Thr202Pro	NA	Q13592|Q13593|Q13594|Q92919|Q92920|Q92921	37	CCDS631.1	.	.	.	.	.	.	.	.	.	.	A	10.41	1.343691	0.24339	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.55234	0.55;0.55;0.55;0.53;0.55	5.96	-7.16	0.01516	.	1.385230	0.04603	N	0.398819	T	0.14442	0.0349	L	0.36672	1.1	0.09310	N	1	P;P;P	0.43633	0.586;0.709;0.813	B;B;B	0.35073	0.192;0.128;0.195	T	0.15321	-1.0441	10	0.26408	T	0.33	2.5165	7.6606	0.28400	0.1856:0.0891:0.5662:0.1591	.	202;202;202	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	P	202	ENSP00000340884:T202P;ENSP00000330393:T202P;ENSP00000360099:T202P;ENSP00000360098:T202P;ENSP00000360097:T202P	ENSP00000340884:T202P	T	+	1	0	LEPR	65831037	0.000000	0.05858	0.002000	0.10522	0.332000	0.28634	-1.672000	0.01952	-1.482000	0.01860	-0.263000	0.10527	ACA	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025275.1		+	ENST00000349533.6	Missense_Mutation	SNP	1 : 66058449 - 66058449 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	369	11
IDH2	3418	broad.mit.edu	37	15	90631667	90631667	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90631667C>T	ENST00000559482.1	-	3	361	c.275G>A	c.(274-276)gGc>gAc	p.G92D	IDH2_ENST00000539790.1_Missense_Mutation_p.G71D|IDH2_ENST00000540499.2_Missense_Mutation_p.G149D|IDH2_ENST00000330062.3_Missense_Mutation_p.G201D			P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	201					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			GACACCACTGCCATCTTTTGG	0.587		NA	M		GBM									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		15	15q26.1	3418	socitrate dehydrogenase 2 (NADP+), mitochondrial 		M	0													88	84	85			NA	NA	15		NA											NA				90631667		2200	4298	6498	SO:0001583	missense				CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	3418	3418	1.1.1.42		5383	protein-coding gene	gene with protein product		147650			NA		Standard		NM_001289910	NA	Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000559482.1:c.275G>A	15.37:g.90631667C>T	ENSP00000453016:p.Gly92Asp	NA	B2R6L6|Q96GT3	37		.	.	.	.	.	.	.	.	.	.	C	15.39	2.819696	0.50633	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	T;T;T	0.79033	-1.23;-1.23;-1.23	5.8	5.8	0.92144	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.91250	0.7242	H	0.94385	3.53	0.80722	D	1	D;D	0.69078	0.997;0.973	D;D	0.68483	0.955;0.958	D	0.93049	0.6464	10	0.72032	D	0.01	.	17.553	0.87881	0.0:1.0:0.0:0.0	.	201;201	Q53GL5;P48735	.;IDHP_HUMAN	D	201;71;149	ENSP00000331897:G201D;ENSP00000438457:G71D;ENSP00000446147:G149D	ENSP00000331897:G201D	G	-	2	0	IDH2	88432671	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	7.781000	0.85668	2.747000	0.94245	0.462000	0.41574	GGC	IDH2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000417508.1		-	ENST00000559482.1	Missense_Mutation	SNP	15 : 90631667 - 90631667 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	635	135
A2ML1	144568	broad.mit.edu	37	12	8975302	8975302	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8975302G>T	ENST00000299698.7	+	1	235	c.55G>T	c.(55-57)Gaa>Taa	p.E19*	A2ML1-AS1_ENST00000537288.1_RNA	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	0						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CATTGCAGAAGAACTTCCGTG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	107	108			NA	NA	12		NA											NA				8975302		1912	4128	6040	SO:0001587	stop_gained			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535	144568	144568			23336	protein-coding gene	gene with protein product		610627	C3 and PZP-like, alpha-2-macroglobulin domain containing 9	CPAMD9	NA	16298998	Standard	NM_144670	NM_144670	NA	Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.55G>T	12.37:g.8975302G>T	ENSP00000299698:p.Glu19*	NA		37	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	G	37	6.347612	0.97494	.	.	ENSG00000166535	ENST00000299698;ENST00000539161	.	.	.	4.09	-0.855	0.10700	.	2.920560	0.01169	N	0.006836	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	2.3015	0.04163	0.1589:0.4917:0.1829:0.1665	.	.	.	.	X	19	.	ENSP00000299698:E19X	E	+	1	0	A2ML1	8866569	0.001000	0.12720	0.001000	0.08648	0.721000	0.41392	-0.003000	0.12901	-0.166000	0.10890	0.655000	0.94253	GAA	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250304.3		+	ENST00000299698.7	Nonsense_Mutation	SNP	12 : 8975302 - 8975302 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	475	96
TMEM135	65084	broad.mit.edu	37	11	87013442	87013442	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:87013442G>A	ENST00000340353.7	+	7	792	c.590G>A	c.(589-591)aGa>aAa	p.R197K	TMEM135_ENST00000532959.1_Missense_Mutation_p.R90K|TMEM135_ENST00000305494.5_Missense_Mutation_p.R219K|TMEM135_ENST00000535167.1_Missense_Mutation_p.R80K	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN	transmembrane protein 135	219						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AAACCCGGAAGAATGAATATG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	164	160			NA	NA	11		NA											NA				87013442		2201	4299	6500	SO:0001583	missense			BX648678	CCDS8280.1, CCDS53692.1	11q14.2	2006-03-09			ENSG00000166575	ENSG00000166575	65084	65084			26167	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_022918	NM_022918	NA	Approved	FLJ22104	uc001pch.3	Q86UB9	OTTHUMG00000167248	ENST00000340353.7:c.590G>A	11.37:g.87013442G>A	ENSP00000345513:p.Arg197Lys	NA	Q6AW91|Q8ND01|Q9H6M3	37	CCDS53692.1	.	.	.	.	.	.	.	.	.	.	G	7.812	0.715959	0.15306	.	.	ENSG00000166575	ENST00000340353;ENST00000544294;ENST00000532959;ENST00000305494;ENST00000535167	T;T;T;T	0.43294	0.96;0.96;0.95;0.96	5.55	2.51	0.30379	.	0.651371	0.16326	N	0.219326	T	0.31857	0.0810	L	0.47716	1.5	0.27324	N	0.956958	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.20907	-1.0261	9	.	.	.	-20.9088	7.203	0.25891	0.1573:0.267:0.5758:0.0	.	197;219	Q86UB9-2;Q86UB9	.;TM135_HUMAN	K	197;56;90;219;80	ENSP00000345513:R197K;ENSP00000436179:R90K;ENSP00000306344:R219K;ENSP00000439525:R80K	.	R	+	2	0	TMEM135	86691090	1.000000	0.71417	0.503000	0.27626	0.079000	0.17450	0.990000	0.29642	0.319000	0.23209	0.655000	0.94253	AGA	TMEM135-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393869.2		+	ENST00000340353.7	Missense_Mutation	SNP	11 : 87013442 - 87013442 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	597	125
NUS1	116150	broad.mit.edu	37	6	118015211	118015211	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:118015211G>A	ENST00000368494.3	+	3	728	c.559G>A	c.(559-561)Gca>Aca	p.A187T		NM_138459.3	NP_612468.1	Q96E22	NGBR_HUMAN	nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)	187					angiogenesis|cell differentiation	integral to membrane	receptor activity|transferase activity, transferring alkyl or aryl (other than methyl) groups			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|prostate(2)	8		all_cancers(87;0.0395)|all_epithelial(87;0.0301)		GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146)		TTGCCATTTGGCAGTGAAGGT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	67	66			NA	NA	6		NA											NA				118015211		2203	4300	6503	SO:0001583	missense			BC013026	CCDS5118.1	6q22.1	2012-12-13	2006-11-24	2006-11-24	ENSG00000153989	ENSG00000153989	116150	116150			21042	protein-coding gene	gene with protein product	Nogo-B receptor, transport and golgi organization 14 homolog (Drosophila)	610463	chromosome 6 open reading frame 68	C6orf68	NA		Standard	NM_138459	NM_138459	NA	Approved	MGC7199, NgBR, TANGO14	uc003pxw.3	Q96E22	OTTHUMG00000015458	ENST00000368494.3:c.559G>A	6.37:g.118015211G>A	ENSP00000357480:p.Ala187Thr	NA	B2RWQ4|O00251	37	CCDS5118.1	.	.	.	.	.	.	.	.	.	.	G	6.404	0.442613	0.12164	.	.	ENSG00000153989	ENST00000368494	T	0.15487	2.42	5.23	2.21	0.28008	.	0.345965	0.34750	N	0.003709	T	0.01905	0.0060	N	0.20766	0.605	0.20403	N	0.99991	B	0.11235	0.004	B	0.11329	0.006	T	0.46331	-0.9199	10	0.02654	T	1	-0.2215	5.2402	0.15467	0.19:0.0:0.4535:0.3565	.	187	Q96E22	NGBR_HUMAN	T	187	ENSP00000357480:A187T	ENSP00000357480:A187T	A	+	1	0	NUS1	118121904	0.021000	0.18746	0.640000	0.29408	0.971000	0.66376	0.198000	0.17217	0.663000	0.31027	0.650000	0.86243	GCA	NUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041989.1		+	ENST00000368494.3	Missense_Mutation	SNP	6 : 118015211 - 118015211 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	566	101
MEGF10	84466	broad.mit.edu	37	5	126758443	126758443	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:126758443C>T	ENST00000274473.6	+	14	1939	c.1672C>T	c.(1672-1674)Cgc>Tgc	p.R558C	MEGF10_ENST00000418761.2_Missense_Mutation_p.R558C|MEGF10_ENST00000508365.1_Missense_Mutation_p.R558C|MEGF10_ENST00000503335.2_Missense_Mutation_p.R558C	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	558	EGF-like 10.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GGGCCATTGCCGCTGCCTCCC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	31	30	30		1672	5.3	1	5		30	0,8600		0,0,4300	no	missense	MEGF10	NM_032446.2	180	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	possibly-damaging	558/1141	126758443	1,13005	2203	4300	6503	SO:0001583	missense			AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794	84466	84466			29634	protein-coding gene	gene with protein product		612453			NA	11347906	Standard	NM_032446	NM_032446	NA	Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1672C>T	5.37:g.126758443C>T	ENSP00000274473:p.Arg558Cys	NA	Q68DE5|Q8WUL3	37	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677266	0.68042	2.27E-4	0.0	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.28	5.28	0.74379	EGF-like, laminin (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	L	0.51422	1.61	0.80722	D	1	B;B	0.16166	0.012;0.016	B;B	0.19946	0.005;0.027	T	0.34153	-0.9840	10	0.37606	T	0.19	-36.2978	19.2744	0.94026	0.0:1.0:0.0:0.0	.	558;558	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	C	558	ENSP00000423354:R558C;ENSP00000423195:R558C;ENSP00000416284:R558C;ENSP00000274473:R558C	ENSP00000274473:R558C	R	+	1	0	MEGF10	126786342	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.059000	0.71133	2.636000	0.89361	0.650000	0.86243	CGC	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250973.2		+	ENST00000274473.6	Missense_Mutation	SNP	5 : 126758443 - 126758443 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	241	38
FBN3	84467	broad.mit.edu	37	19	8155129	8155129	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8155129C>T	ENST00000600128.1	-	49	6452	c.6038G>A	c.(6037-6039)cGg>cAg	p.R2013Q	FBN3_ENST00000270509.2_Missense_Mutation_p.R2013Q|FBN3_ENST00000601739.1_Missense_Mutation_p.R2013Q			Q75N90	FBN3_HUMAN	fibrillin 3	2013						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GAAACTCTGCCGTGTGTCTGT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	43	43			NA	NA	19		NA											NA				8155129		2203	4300	6503	SO:0001583	missense				CCDS12196.1	19p13	2008-02-05					84467	84467			18794	protein-coding gene	gene with protein product		608529			NA		Standard	NM_032447	NM_032447	NA	Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.6038G>A	19.37:g.8155129C>T	ENSP00000470498:p.Arg2013Gln	NA	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	37	CCDS12196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.761022|4.761022	0.89932|0.89932	.|.	.|.	ENSG00000142449|ENSG00000142449	ENST00000341066|ENST00000270509	.|D	.|0.87256	.|-2.23	4.58|4.58	3.53|3.53	0.40419|0.40419	.|Matrix fibril-associated (2);	.|0.000000	.|0.85682	.|U	.|0.000000	D|D	0.91885|0.91885	0.7431|0.7431	M|M	0.73217|0.73217	2.22|2.22	0.53005|0.53005	D|D	0.999969|0.999969	.|D	.|0.76494	.|0.999	.|D	.|0.72625	.|0.978	D|D	0.91842|0.91842	0.5484|0.5484	6|10	0.11794|0.62326	T|D	0.64|0.03	.|.	12.7286|12.7286	0.57185|0.57185	0.0:0.919:0.0:0.081|0.0:0.919:0.0:0.081	.|.	.|2013	.|Q75N90	.|FBN3_HUMAN	S|Q	133|2013	.|ENSP00000270509:R2013Q	ENSP00000341317:G133S|ENSP00000270509:R2013Q	G|R	-|-	1|2	0|0	FBN3|FBN3	8061129|8061129	1.000000|1.000000	0.71417|0.71417	0.928000|0.928000	0.36995|0.36995	0.945000|0.945000	0.59286|0.59286	5.547000|5.547000	0.67249|0.67249	0.908000|0.908000	0.36671|0.36671	0.561000|0.561000	0.74099|0.74099	GGC|CGG	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461428.2		-	ENST00000600128.1	Missense_Mutation	SNP	19 : 8155129 - 8155129 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	47
CNGA3	1261	broad.mit.edu	37	2	99013655	99013655	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99013655C>T	ENST00000409937.1	+	8	2175	c.2034C>T	c.(2032-2034)gaC>gaT	p.D678D	CNGA3_ENST00000436404.2_Silent_p.D656D|CNGA3_ENST00000272602.2_Silent_p.D674D|CNGA3_ENST00000393504.1_Silent_p.D674D			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	674					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GTGGTGGGGACAAGCCCCTGG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	40	39			NA	NA	2		NA											NA				99013655		2203	4300	6503	SO:0001819	synonymous_variant			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191	1261	1261		Voltage-gated ion channels / Cyclic nucleotide-regulated channels	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2	NA	7532814, 9517456, 16382102	Standard	NM_001298	NM_001298	NA	Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000409937.1:c.2034C>T	2.37:g.99013655C>T		NA	Q53RD2|Q9UP64	37																																																																																				CNGA3-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000329558.1		+	ENST00000409937.1	Silent	SNP	2 : 99013655 - 99013655 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	74
JAG1	182	broad.mit.edu	37	20	10621489	10621489	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:10621489C>T	ENST00000254958.5	-	25	3656	c.3141G>A	c.(3139-3141)tcG>tcA	p.S1047S	JAG1_ENST00000423891.2_Silent_p.S888S	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1047					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CAGCAATCAGCGAGCTGTTTC	0.448		NA							Alagille Syndrome				C	2	9e-04	NA	NA	2184	0.0035	1	,	,	NA	3e-04	NA	NA	NA	9e-04	1	EXOME	NA	NA	0.0025	SNP								NA				0													113	100	104			NA	NA	20		NA											NA				10621489		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384	182	182		CD molecules	6188	protein-coding gene	gene with protein product		601920	Alagille syndrome	AGS, JAGL1	NA	7697721, 9207788	Standard	NM_000214	NM_000214	NA	Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.3141G>A	20.37:g.10621489C>T		NA	A0AV43|O14902|O15122|Q15816	37	CCDS13112.1																																																																																			JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding			-	ENST00000254958.5	Silent	SNP	20 : 10621489 - 10621489 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	80
CMYA5	202333	broad.mit.edu	37	5	79032156	79032156	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79032156A>G	ENST00000446378.2	+	2	7599	c.7568A>G	c.(7567-7569)tAc>tGc	p.Y2523C		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2523						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AATGAAGACTACAATGAAAGA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	60	61			NA	NA	5		NA											NA				79032156		1854	4095	5949	SO:0001583	missense			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309	202333	202333		Tripartite motif containing / Tripartite motif containing, A-kinase anchor proteins, Fibronectin type III domain containing	14305	protein-coding gene	gene with protein product	genethonin-3, tripartite motif-containing 76	612193	chromosome 5 open reading frame 10	C5orf10	NA	14688250	Standard	NM_153610	NM_153610	NA	Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.7568A>G	5.37:g.79032156A>G	ENSP00000394770:p.Tyr2523Cys	NA	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	37	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	A	5.166	0.216253	0.09810	.	.	ENSG00000164309	ENST00000446378	T	0.17054	2.3	5.99	4.81	0.61882	.	1.389500	0.04363	N	0.357746	T	0.15176	0.0366	N	0.22421	0.69	0.09310	N	1	P	0.48640	0.913	B	0.43103	0.408	T	0.16041	-1.0416	10	0.35671	T	0.21	.	6.6843	0.23136	0.6888:0.1537:0.0:0.1575	.	2523	Q8N3K9	CMYA5_HUMAN	C	2523	ENSP00000394770:Y2523C	ENSP00000394770:Y2523C	Y	+	2	0	CMYA5	79067912	0.024000	0.19004	0.947000	0.38551	0.017000	0.09413	2.820000	0.48057	1.045000	0.40225	0.533000	0.62120	TAC	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369497.1		+	ENST00000446378.2	Missense_Mutation	SNP	5 : 79032156 - 79032156 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	200	40
HIST1H3B	8358	broad.mit.edu	37	6	26031956	26031956	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26031956G>A	ENST00000244661.2	-	1	332	c.333C>T	c.(331-333)tgC>tgT	p.C111C		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	111					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						CATGGATGGCGCAAAGGTTTG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	77	77			NA	NA	6		NA											NA				26031956		2203	4300	6503	SO:0001819	synonymous_variant			X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267	8358	8358		Histones / Replication-dependent	4776	protein-coding gene	gene with protein product		602819	H3 histone family, member L, histone 1, H3b	H3FL	NA	6647026, 9119399, 12408966	Standard	NM_003537	NM_003537	NA	Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.333C>T	6.37:g.26031956G>A		NA	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	37	CCDS4573.1																																																																																			HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040077.1		-	ENST00000244661.2	Silent	SNP	6 : 26031956 - 26031956 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	441	102
TMEM132A	54972	broad.mit.edu	37	11	60696127	60696127	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60696127G>T	ENST00000005286.4	+	4	714	c.561G>T	c.(559-561)gaG>gaT	p.E187D	TMEM132A_ENST00000453848.2_Missense_Mutation_p.E187D	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	187						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GCGTGGTGGAGCTGGAGCTTC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	47	46			NA	NA	11		NA											NA				60696127		2198	4281	6479	SO:0001583	missense			AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118	54972	54972			31092	protein-coding gene	gene with protein product			heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1	HSPA5BP1	NA	12514190, 10997877	Standard	NM_017870	NM_017870	NA	Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000005286.4:c.561G>T	11.37:g.60696127G>T	ENSP00000005286:p.Glu187Asp	NA	Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	37	CCDS7997.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628841	0.67015	.	.	ENSG00000006118	ENST00000453848;ENST00000005286	T;T	0.08282	3.11;3.11	4.32	3.39	0.38822	.	0.069858	0.52532	D	0.000062	T	0.19446	0.0467	L	0.60455	1.87	0.35948	D	0.833686	D;P;D	0.69078	0.997;0.884;0.994	D;B;P	0.66196	0.942;0.38;0.892	T	0.08513	-1.0718	10	0.87932	D	0	.	7.482	0.27411	0.2093:0.0:0.7907:0.0	.	176;187;187	Q24JP5-3;Q24JP5;Q24JP5-2	.;T132A_HUMAN;.	D	187	ENSP00000405823:E187D;ENSP00000005286:E187D	ENSP00000005286:E187D	E	+	3	2	TMEM132A	60452703	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.464000	0.45067	0.923000	0.37045	0.462000	0.41574	GAG	TMEM132A-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396353.1		+	ENST00000005286.4	Missense_Mutation	SNP	11 : 60696127 - 60696127 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	603	94
ITIH6	347365	broad.mit.edu	37	X	54814949	54814949	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54814949G>A	ENST00000498398.1	-	0	92				ITIH6_ENST00000218436.6_Silent_p.Y250Y			Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	NA					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity				NA						TGACCACATCGTACTGAACCA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	100	123			NA	NA	X		NA											NA				54814949		2203	4300	6503	SO:0001623	5_prime_UTR_variant			AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313	347365	347365			28907	protein-coding gene	gene with protein product			inter-alpha (globulin) inhibitor H5-like	ITIH5L	NA	12975309	Standard	NM_198510	NM_198510	NA	Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000498398.1:c.-566C>T	X.37:g.54814949G>A		NA	A6NN03	37																																																																																				ITIH6-002	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000056829.1		-	ENST00000498398.1	5'UTR	SNP	X : 54814949 - 54814949 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	224	44
RBMXL2	27288	broad.mit.edu	37	11	7111361	7111361	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7111361C>T	ENST00000306904.5	+	1	1197	c.1010C>T	c.(1009-1011)tCg>tTg	p.S337L		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	337	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)		GACCGCTACTCGAGGGGCCGA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	22	22			NA	NA	11		NA											NA				7111361		2200	4295	6495	SO:0001583	missense			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.1010C>T	11.37:g.7111361C>T	ENSP00000304139:p.Ser337Leu	NA	Q6PEZ2|Q9NQU0	37	CCDS7777.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883498	0.51908	.	.	ENSG00000170748	ENST00000306904	T	0.77489	-1.1	3.73	2.81	0.32909	.	0.078186	0.53938	U	0.000043	T	0.67515	0.2901	L	0.39147	1.195	0.41031	D	0.985153	D	0.53619	0.961	B	0.40285	0.325	T	0.71364	-0.4615	10	0.62326	D	0.03	.	11.6572	0.51325	0.0:0.8191:0.1809:0.0	.	337	O75526	HNRGT_HUMAN	L	337	ENSP00000304139:S337L	ENSP00000304139:S337L	S	+	2	0	RBMXL2	7067937	0.999000	0.42202	0.896000	0.35187	0.880000	0.50808	4.144000	0.58057	1.129000	0.42072	0.563000	0.77884	TCG	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384552.1		+	ENST00000306904.5	Missense_Mutation	SNP	11 : 7111361 - 7111361 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	212	31
SOGA3	387104	broad.mit.edu	37	6	127796553	127796553	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127796553C>T	ENST00000481848.2	-	6	3128	c.2618G>A	c.(2617-2619)cGc>cAc	p.R873H	SOGA3_ENST00000465909.2_Missense_Mutation_p.R873H|SOGA3_ENST00000525778.1_Missense_Mutation_p.R873H|SOGA3_ENST00000556132.1_Missense_Mutation_p.R873H|SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000368268.2_Missense_Mutation_p.R873H			Q5TF21	CF174_HUMAN	SOGA family member 3	873						integral to membrane					NA						AGCGTTGATGCGGTAGAGCAG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	70	67			NA	NA	6		NA											NA				127796553		2167	4255	6422	SO:0001583	missense			AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338	387104	387104			21494	protein-coding gene	gene with protein product			chromosome 6 open reading frame 174	C6orf174	NA		Standard	NM_001012279	NM_001012279	NA	Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000481848.2:c.2618G>A	6.37:g.127796553C>T	ENSP00000455908:p.Arg873His	NA		37	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490278	0.84962	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.39572	0.1083	L	0.51422	1.61	0.58432	D	0.999999	D	0.69078	0.997	P	0.58210	0.835	T	0.10870	-1.0611	10	0.56958	D	0.05	-13.2736	19.9031	0.96996	0.0:1.0:0.0:0.0	.	873	Q5TF21	CF174_HUMAN	H	873	ENSP00000451768:R873H;ENSP00000357251:R873H;ENSP00000434570:R873H;ENSP00000435559:R873H	ENSP00000435559:R873H	R	-	2	0	C6orf174	127838246	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.044000	0.71012	2.710000	0.92621	0.561000	0.74099	CGC	SOGA3-001	KNOWN	basic|appris_candidate_longest|readthrough_transcript|CCDS	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000042149.3		-	ENST00000481848.2	Missense_Mutation	SNP	6 : 127796553 - 127796553 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	618	100
GNRHR	2798	broad.mit.edu	37	4	68610471	68610471	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68610471C>T	ENST00000226413.4	-	2	581	c.557G>A	c.(556-558)aGc>aAc	p.S186N	UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000502758.1_RNA|GNRHR_ENST00000420975.2_Intron	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	186					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	CTGTCCAGAGCTGTCTGCTAG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	145	146			NA	NA	4		NA											NA				68610471		2203	4300	6503	SO:0001583	missense				CCDS3517.1, CCDS47064.1	4q21.2	2012-08-08			ENSG00000109163	ENSG00000109163	NA	2798		GPCR / Class A : Gonadotropin-releasing hormone receptors	4421	protein-coding gene	gene with protein product		138850		GRHR	NA	8386108	Standard		NM_000406	NA	Approved	LHRHR	uc003hdn.3	P30968	OTTHUMG00000129302	ENST00000226413.4:c.557G>A	4.37:g.68610471C>T	ENSP00000226413:p.Ser186Asn	NA	O75793|Q14D13|Q92644	37	CCDS3517.1	.	.	.	.	.	.	.	.	.	.	C	9.168	1.020455	0.19433	.	.	ENSG00000109163	ENST00000226413	T	0.37752	1.18	5.29	1.05	0.20165	GPCR, rhodopsin-like superfamily (1);	0.648819	0.14767	N	0.299611	T	0.18509	0.0444	N	0.17723	0.515	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21449	-1.0245	10	0.20519	T	0.43	1.8215	5.0319	0.14413	0.3642:0.4621:0.0:0.1736	.	186	P30968	GNRHR_HUMAN	N	186	ENSP00000226413:S186N	ENSP00000226413:S186N	S	-	2	0	GNRHR	68293066	0.000000	0.05858	0.001000	0.08648	0.791000	0.44710	-0.042000	0.12063	0.234000	0.21139	0.643000	0.83706	AGC	GNRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251432.2		-	ENST00000226413.4	Missense_Mutation	SNP	4 : 68610471 - 68610471 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	675	114
POLL	27343	broad.mit.edu	37	10	103339447	103339447	+	Silent	SNP	G	G	A	rs145961723	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103339447G>A	ENST00000370162.3	-	9	1985	c.1491C>T	c.(1489-1491)agC>agT	p.S497S	POLL_ENST00000370169.1_Silent_p.S497S|POLL_ENST00000339310.3_Silent_p.S220S|POLL_ENST00000370158.3_Silent_p.S222S|POLL_ENST00000370172.1_Silent_p.S409S|POLL_ENST00000370168.3_Silent_p.S170S|POLL_ENST00000456836.2_Silent_p.S234S|DPCD_ENST00000416979.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000299206.4_Silent_p.S497S|POLL_ENST00000463515.1_5'UTR	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	497	DNA binding.				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		AGGCAAACTCGCTATAGGGCA	0.607		NA						DNA polymerases (catalytic subunits)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	79	79			NA	NA	10		NA											NA				103339447		2203	4300	6503	SO:0001819	synonymous_variant			AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169	27343	27343		DNA polymerases	9184	protein-coding gene	gene with protein product		606343			NA	17686665	Standard	NM_013274	NM_001174084	NA	Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.1491C>T	10.37:g.103339447G>A		NA	D3DR76|Q5JQP5|Q6NUM2|Q9HA10|Q9HB35	37	CCDS7513.1																																																																																			POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049946.1		-	ENST00000370162.3	Silent	SNP	10 : 103339447 - 103339447 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	736	68
TLR5	7100	broad.mit.edu	37	1	223285335	223285335	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223285335G>T	ENST00000540964.1	-	4	1500	c.1039C>A	c.(1039-1041)Ctt>Att	p.L347I	TLR5_ENST00000342210.6_Missense_Mutation_p.L347I			O60602	TLR5_HUMAN	toll-like receptor 5	347					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TCCCCCAGAAGGTTATATGAC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	96	96			NA	NA	1		NA											NA				223285335		2203	4300	6503	SO:0001583	missense				CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554	7100	7100			11851	protein-coding gene	gene with protein product	Toll/interleukin-1 receptor-like protein 3	603031	systemic lupus erythematosus susceptibility 1	SLEB1	NA	9435236, 16027372	Standard	NM_003268	NM_003268	NA	Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.1039C>A	1.37:g.223285335G>T	ENSP00000440643:p.Leu347Ile	NA	B1AZ05|B3Y633|D3DTB8|O15456|Q32MI3	37	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734583	0.69189	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.57907	0.37;0.37;0.37	5.4	5.4	0.78164	.	0.068294	0.64402	D	0.000019	T	0.64972	0.2647	L	0.48260	1.515	0.58432	D	0.999991	D	0.76494	0.999	D	0.83275	0.996	T	0.65496	-0.6154	10	0.56958	D	0.05	.	12.5837	0.56406	0.076:0.0:0.9239:0.0	.	347	O60602	TLR5_HUMAN	I	347	ENSP00000440643:L347I;ENSP00000355846:L347I;ENSP00000340089:L347I	ENSP00000340089:L347I	L	-	1	0	TLR5	221351958	1.000000	0.71417	0.995000	0.50966	0.874000	0.50279	5.120000	0.64685	2.537000	0.85549	0.644000	0.83932	CTT	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding			-	ENST00000540964.1	Missense_Mutation	SNP	1 : 223285335 - 223285335 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	704	108
NWD1	284434	broad.mit.edu	37	19	16926085	16926085	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16926085C>T	ENST00000552788.1	+	18	4640	c.4640C>T	c.(4639-4641)gCc>gTc	p.A1547V	NWD1_ENST00000524140.2_3'UTR|NWD1_ENST00000549814.1_Missense_Mutation_p.A1505V|NWD1_ENST00000523826.1_Missense_Mutation_p.A1341V|NWD1_ENST00000339803.6_Missense_Mutation_p.A1412V|NWD1_ENST00000379808.3_3'UTR			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1547							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCAGAAAGTGCCCAGGGAAAT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	38	40			NA	NA	19		NA											NA				16926085		2203	4300	6503	SO:0001583	missense			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039	284434	284434		WD repeat domain containing	27619	protein-coding gene	gene with protein product					NA		Standard	NM_001007525	NM_001007525	NA	Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.4640C>T	19.37:g.16926085C>T	ENSP00000447224:p.Ala1547Val	NA	C9J021|Q68CT3	37		.	.	.	.	.	.	.	.	.	.	C	10.27	1.305035	0.23736	.	.	ENSG00000188039	ENST00000420818;ENST00000549814;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T	0.57595	0.51;0.39;0.45;0.45	4.86	2.67	0.31697	.	.	.	.	.	T	0.24314	0.0589	.	.	.	0.09310	N	1	B;B	0.17038	0.011;0.02	B;B	0.12156	0.005;0.007	T	0.24548	-1.0157	8	0.02654	T	1	.	7.5034	0.27530	0.0:0.7179:0.0:0.2821	.	1547;1412	Q149M9;C9J2Y8	NWD1_HUMAN;.	V	1412;1505;1341;1547;1412	ENSP00000447548:A1505V;ENSP00000428955:A1341V;ENSP00000447224:A1547V;ENSP00000340159:A1412V	ENSP00000340159:A1412V	A	+	2	0	NWD1	16787085	0.000000	0.05858	0.006000	0.13384	0.207000	0.24258	0.034000	0.13776	1.169000	0.42739	0.650000	0.86243	GCC	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000403569.1		+	ENST00000552788.1	Missense_Mutation	SNP	19 : 16926085 - 16926085 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	215	26
DSEL	92126	broad.mit.edu	37	18	65178816	65178816	+	Silent	SNP	C	C	A	rs139752903		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:65178816C>A	ENST00000310045.7	-	2	4533	c.3060G>T	c.(3058-3060)acG>acT	p.T1020T	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1010						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GAAGCTTTAACGTCCAGCTTC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	82	80			NA	NA	18		NA											NA				65178816		2203	4300	6503	SO:0001819	synonymous_variant			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451	92126	92126			18144	protein-coding gene	gene with protein product		611125	chromosome 18 open reading frame 4	C18orf4	NA	16505484	Standard	NM_032160	NM_032160	NA	Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.3060G>T	18.37:g.65178816C>A		NA	Q17RH1|Q6P5Z3	37	CCDS11995.1																																																																																			DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256221.1		-	ENST00000310045.7	Silent	SNP	18 : 65178816 - 65178816 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	588	118
PNMAL1	55228	broad.mit.edu	37	19	46974141	46974141	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46974141C>A	ENST00000313683.10	-	2	457	c.152G>T	c.(151-153)gGc>gTc	p.G51V	PNMAL1_ENST00000438932.2_Missense_Mutation_p.G51V|PNMAL1_ENST00000602246.1_Missense_Mutation_p.G51V	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	51										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		gcggtacgggcccagtgggga	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	59	64			NA	NA	19		NA											NA				46974141		2203	4300	6503	SO:0001583	missense			BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013	55228	55228		Paraneoplastic Ma antigens	25578	protein-coding gene	gene with protein product			PNMA-like 1		NA	12477932	Standard	NM_018215	NM_018215	NA	Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.152G>T	19.37:g.46974141C>A	ENSP00000318131:p.Gly51Val	NA	A8K2F3|Q5U638|Q8N3H4|Q9NVE8	37	CCDS33059.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529399	0.64860	.	.	ENSG00000182013	ENST00000438932;ENST00000313683;ENST00000417103	T;T	0.15256	2.44;2.44	3.8	3.8	0.43715	.	0.000000	0.41605	D	0.000845	T	0.39172	0.1068	M	0.74258	2.255	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.17623	-1.0363	10	0.56958	D	0.05	-13.2325	11.4785	0.50312	0.0:1.0:0.0:0.0	.	51;51	Q86V59-2;Q86V59	.;PNML1_HUMAN	V	51	ENSP00000410273:G51V;ENSP00000318131:G51V	ENSP00000318131:G51V	G	-	2	0	PNMAL1	51665981	0.999000	0.42202	0.933000	0.37362	0.704000	0.40688	3.328000	0.52052	2.421000	0.82119	0.561000	0.74099	GGC	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403929.1		-	ENST00000313683.10	Missense_Mutation	SNP	19 : 46974141 - 46974141 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	250	35
DYNC1LI1	51143	broad.mit.edu	37	3	32574558	32574558	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32574558C>A	ENST00000273130.4	-	8	1103	c.1000G>T	c.(1000-1002)Gga>Tga	p.G334*	DYNC1LI1_ENST00000432458.2_Nonsense_Mutation_p.G218*	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	334					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						TGTAATATTCCTATTTTCTTA	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	82	80			NA	NA	3		NA											NA				32574558		2203	4288	6491	SO:0001587	stop_gained			AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635	51143	51143		Cytoplasmic dyneins	18745	protein-coding gene	gene with protein product		615890	dynein, cytoplasmic, light intermediate polypeptide 1	DNCLI1	NA	16260502	Standard	NM_016141	NM_016141	NA	Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.1000G>T	3.37:g.32574558C>A	ENSP00000273130:p.Gly334*	NA	A2RRG7|Q53HC8|Q53HK7	37	CCDS2654.1	.	.	.	.	.	.	.	.	.	.	C	39	7.298957	0.98196	.	.	ENSG00000144635	ENST00000273130;ENST00000432458	.	.	.	5.96	5.96	0.96718	.	0.048924	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-20.6077	20.4192	0.99033	0.0:1.0:0.0:0.0	.	.	.	.	X	334;218	.	ENSP00000273130:G334X	G	-	1	0	DYNC1LI1	32549562	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.831000	0.97527	0.650000	0.86243	GGA	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253250.1		-	ENST00000273130.4	Nonsense_Mutation	SNP	3 : 32574558 - 32574558 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	212	33
CDCP1	64866	broad.mit.edu	37	3	45160072	45160072	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45160072C>T	ENST00000296129.1	-	2	258	c.124G>A	c.(124-126)Gtt>Att	p.V42I	CDCP1_ENST00000425231.2_Missense_Mutation_p.V42I|CDCP1_ENST00000490471.1_5'UTR	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	42						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TTTATGAGAACTGTAATGTTG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	93	93			NA	NA	3		NA											NA				45160072		2203	4300	6503	SO:0001583	missense			AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814	64866	64866		CD molecules	24357	protein-coding gene	gene with protein product		611735			NA	11466621	Standard	NM_022842	NM_022842	NA	Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.124G>A	3.37:g.45160072C>T	ENSP00000296129:p.Val42Ile	NA	Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	37	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.635392	0.29068	.	.	ENSG00000163814	ENST00000296129;ENST00000425231	T;T	0.53857	1.83;0.6	5.33	-1.17	0.09648	.	0.485400	0.22915	N	0.054087	T	0.32852	0.0843	L	0.41824	1.3	0.09310	N	1	B;B	0.12013	0.003;0.005	B;B	0.14578	0.007;0.011	T	0.30268	-0.9984	10	0.07813	T	0.8	-4.6003	7.1109	0.25390	0.0:0.3763:0.1189:0.5048	.	42;42	Q9H5V8-3;Q9H5V8	.;CDCP1_HUMAN	I	42	ENSP00000296129:V42I;ENSP00000399342:V42I	ENSP00000296129:V42I	V	-	1	0	CDCP1	45135076	0.000000	0.05858	0.000000	0.03702	0.607000	0.37147	-0.837000	0.04377	-0.434000	0.07275	0.561000	0.74099	GTT	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256748.3		-	ENST00000296129.1	Missense_Mutation	SNP	3 : 45160072 - 45160072 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	68
GAD1	2571	broad.mit.edu	37	2	171686050	171686050	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171686050C>T	ENST00000358196.3	+	4	761	c.211C>T	c.(211-213)Caa>Taa	p.Q71*	GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000344257.5_Nonsense_Mutation_p.Q71*|GAD1_ENST00000375272.1_Nonsense_Mutation_p.Q71*	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	71					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CAAGGAGAGGCAATCCTCCAA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	85	83			NA	NA	2		NA											NA				171686050		2203	4300	6503	SO:0001587	stop_gained				CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	2571	2571	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	glutamate decarboxylase 1 (brain, 67kD)	GAD	NA	1549570	Standard		XM_005246443	NA	Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.211C>T	2.37:g.171686050C>T	ENSP00000350928:p.Gln71*	NA	Q53TQ7|Q9BU91|Q9UHH4	37	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	C	32	5.113533	0.94339	.	.	ENSG00000128683	ENST00000454603;ENST00000358196;ENST00000375272;ENST00000344257;ENST00000455008;ENST00000456864	.	.	.	5.37	5.37	0.77165	.	0.152297	0.47093	D	0.000253	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-4.5418	19.1006	0.93272	0.0:1.0:0.0:0.0	.	.	.	.	X	71	.	ENSP00000341167:Q71X	Q	+	1	0	GAD1	171394296	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.948000	0.49066	2.483000	0.83821	0.542000	0.68232	CAA	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000102664.2		+	ENST00000358196.3	Nonsense_Mutation	SNP	2 : 171686050 - 171686050 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	795	194
LONP2	83752	broad.mit.edu	37	16	48381426	48381426	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48381426G>A	ENST00000285737.4	+	13	2040	c.1947G>A	c.(1945-1947)caG>caA	p.Q649Q	LONP2_ENST00000535754.1_Silent_p.Q605Q	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	649					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AGGTATCTCAGCGTTTGAGTC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	135	134			NA	NA	16		NA											NA				48381426		2200	4300	6500	SO:0001819	synonymous_variant			AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910	83752	83752		ATPases / AAA-type	20598	protein-coding gene	gene with protein product					NA	14561759	Standard	NM_031490	XM_005256191	NA	Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.1947G>A	16.37:g.48381426G>A		NA	Q0D2H6|Q8N3B9|Q8NCE9|Q96K43	37	CCDS10734.1																																																																																			LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256839.2		+	ENST00000285737.4	Silent	SNP	16 : 48381426 - 48381426 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	508	78
GTPBP3	84705	broad.mit.edu	37	19	17448962	17448962	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17448962G>T	ENST00000324894.8	+	2	267	c.199G>T	c.(199-201)Gca>Tca	p.A67S	GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000358792.7_Missense_Mutation_p.A67S|GTPBP3_ENST00000361619.5_Missense_Mutation_p.A89S|GTPBP3_ENST00000600625.1_Missense_Mutation_p.A67S	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	67					tRNA modification	mitochondrion	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						AATTCTCACAGCACCCCGAGA	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	15	14			NA	NA	19		NA											NA				17448962		2185	4279	6464	SO:0001583	missense			AF360742	CCDS32950.1, CCDS32951.1, CCDS56088.1, CCDS59364.1	19p13.2	2008-02-05				ENSG00000130299	84705	84705			14880	protein-coding gene	gene with protein product		608536			NA	1290633	Standard	NM_032620	NM_001128855	NA	Approved	MSS1, THDF1, GTPBG3, MTGP1, FLJ14700	uc010xpo.2	Q969Y2		ENST00000324894.8:c.199G>T	19.37:g.17448962G>T	ENSP00000313818:p.Ala67Ser	NA	A6NFH1|A6NKR4|A8K7B4|Q8TCY6|Q8WUW9|Q969G4|Q9BX61	37	CCDS32951.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072863	0.36566	.	.	ENSG00000130299	ENST00000361619;ENST00000324894;ENST00000358792;ENST00000546035	T;T;T	0.29655	1.56;1.57;1.56	5.61	3.47	0.39725	GTP-binding protein TrmE, N-terminal (2);	0.157689	0.56097	D	0.000040	T	0.30386	0.0763	N	0.16656	0.425	0.28550	N	0.91166	B;B;B;D	0.57899	0.063;0.067;0.12;0.981	B;B;B;P	0.57101	0.032;0.065;0.061;0.813	T	0.07046	-1.0793	10	0.56958	D	0.05	-17.1603	10.3432	0.43891	0.1647:0.0:0.8353:0.0	.	89;67;67;67	A6NIG5;Q969Y2;Q969Y2-3;Q969Y2-2	.;GTPB3_HUMAN;.;.	S	89;67;67;67	ENSP00000354598:A89S;ENSP00000313818:A67S;ENSP00000351644:A67S	ENSP00000313818:A67S	A	+	1	0	GTPBP3	17309962	1.000000	0.71417	0.620000	0.29132	0.019000	0.09904	2.254000	0.43214	1.371000	0.46172	0.491000	0.48974	GCA	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463624.1		+	ENST00000324894.8	Missense_Mutation	SNP	19 : 17448962 - 17448962 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	142	21
AHNAK2	113146	broad.mit.edu	37	14	105407193	105407193	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105407193G>A	ENST00000557457.1	-	2	129				AHNAK2_ENST00000333244.5_Silent_p.F4865F			Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	NA						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGGTTTATAGAATTTAGGAA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	33	32			NA	NA	14		NA											NA				105407193		1889	4115	6004	SO:0001627	intron_variant			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567	113146	113146			20125	protein-coding gene	gene with protein product		608570	chromosome 14 open reading frame 78	C14orf78	NA	15007166	Standard	NM_138420	NM_138420	NA	Approved		uc010axc.1	Q8IVF2		ENST00000557457.1:c.114+17C>T	14.37:g.105407193G>A		NA	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	37																																																																																				AHNAK2-003	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000410299.1		-	ENST00000557457.1	Intron	SNP	14 : 105407193 - 105407193 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	117	26
C17orf75	64149	broad.mit.edu	37	17	30665300	30665300	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30665300T>C	ENST00000577809.1	-	4	467	c.418A>G	c.(418-420)Acg>Gcg	p.T140A	RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Missense_Mutation_p.T140A	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	140					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GAGTCTATCGTTACTGTTTCA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	116	117			NA	NA	17		NA											NA				30665300		1839	4100	5939	SO:0001583	missense			AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666	64149	64149			30173	protein-coding gene	gene with protein product					NA		Standard	NM_022344	NM_022344	NA	Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.418A>G	17.37:g.30665300T>C	ENSP00000464275:p.Thr140Ala	NA	Q7Z2H4	37	CCDS58537.1	.	.	.	.	.	.	.	.	.	.	T	3.600	-0.081745	0.07141	.	.	ENSG00000108666	ENST00000225805	.	.	.	5.62	0.773	0.18516	.	0.406564	0.30003	N	0.010642	T	0.16257	0.0391	N	0.16478	0.41	0.18873	N	0.999983	B	0.02656	0.0	B	0.04013	0.001	T	0.21008	-1.0258	9	0.14252	T	0.57	-13.093	4.9529	0.14023	0.124:0.2811:0.0:0.5949	.	140	Q9HAS0	NJMU_HUMAN	A	140	.	ENSP00000225805:T140A	T	-	1	0	C17orf75	27689413	0.404000	0.25328	0.386000	0.26170	0.003000	0.03518	0.321000	0.19558	0.085000	0.17107	-0.411000	0.06167	ACG	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447204.1		-	ENST00000577809.1	Missense_Mutation	SNP	17 : 30665300 - 30665300 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	559	56
TOX4	9878	broad.mit.edu	37	14	21964723	21964723	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21964723G>A	ENST00000405508.1	+	10	2101	c.1825G>A	c.(1825-1827)Gta>Ata	p.V609I	TOX4_ENST00000448790.2_Missense_Mutation_p.V586I|TOX4_ENST00000262709.3_Missense_Mutation_p.V609I			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	609						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		CTTGGCCTGGGTAGCCTCTAG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	142	146			NA	NA	14		NA											NA				21964723		2203	4300	6503	SO:0001583	missense			AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203	9878	9878			20161	protein-coding gene	gene with protein product		614032	chromosome 14 open reading frame 92, KIAA0737	C14orf92, KIAA0737	NA		Standard	NM_014828	NM_014828	NA	Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1825G>A	14.37:g.21964723G>A	ENSP00000385102:p.Val609Ile	NA		37	CCDS32043.1	.	.	.	.	.	.	.	.	.	.	G	8.990	0.977518	0.18812	.	.	ENSG00000092203	ENST00000405508;ENST00000262709;ENST00000448790;ENST00000545559	T;T;T	0.14766	2.48;2.48;2.48	5.01	4.11	0.48088	.	0.304156	0.31809	N	0.007021	T	0.10551	0.0258	L	0.34521	1.04	0.29776	N	0.834394	B;B	0.20459	0.045;0.045	B;B	0.21360	0.034;0.034	T	0.07195	-1.0785	10	0.40728	T	0.16	.	8.5995	0.33736	0.0:0.1674:0.6592:0.1734	.	586;609	B4DPY8;O94842	.;TOX4_HUMAN	I	609;609;586;537	ENSP00000385102:V609I;ENSP00000262709:V609I;ENSP00000393080:V586I	ENSP00000262709:V609I	V	+	1	0	TOX4	21034563	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.104000	0.41815	1.447000	0.47661	0.650000	0.86243	GTA	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317287.2		+	ENST00000405508.1	Missense_Mutation	SNP	14 : 21964723 - 21964723 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	482	92
RBCK1	10616	broad.mit.edu	37	20	400247	400247	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:400247C>T	ENST00000356286.5	+	6	1333	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	RBCK1_ENST00000382181.2_Silent_p.R93R|RBCK1_ENST00000353660.3_Missense_Mutation_p.R168W	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	210	Interaction with IRF3.|Interaction with TAB2.				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CAAGCCCACGCGGCCTGGCTG	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	18	18			NA	NA	20		NA											NA				400247		2196	4292	6488	SO:0001583	missense			U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826	10616	10616		RING-type (C3HC4) zinc fingers, Zinc fingers, RAN-binding domain containing	15864	protein-coding gene	gene with protein product	heme-oxidized IRP2 ubiquitin ligase 1	610924	chromosome 20 open reading frame 18	C20orf18	NA		Standard	NM_031229	NM_031229	NA	Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.628C>T	20.37:g.400247C>T	ENSP00000348632:p.Arg210Trp	NA	O95623|Q86SL2|Q96BS3|Q9BYM9	37	CCDS13000.2	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485723	0.63962	.	.	ENSG00000125826	ENST00000356286;ENST00000353660;ENST00000400244;ENST00000400243	T;T	0.45276	0.9;0.9	4.73	-1.35	0.09114	Zinc finger, RanBP2-type (3);	0.131807	0.50627	D	0.000105	T	0.46405	0.1391	M	0.72353	2.195	0.80722	D	1	D;P;B	0.56035	0.974;0.812;0.322	P;B;B	0.47015	0.534;0.19;0.037	T	0.58451	-0.7634	10	0.87932	D	0	-17.207	15.1642	0.72807	0.7534:0.2466:0.0:0.0	.	200;168;210	B4E0F5;Q9BYM8-3;Q9BYM8	.;.;HOIL1_HUMAN	W	210;168;210;251	ENSP00000348632:R210W;ENSP00000254960:R168W	ENSP00000254960:R168W	R	+	1	2	RBCK1	348247	0.162000	0.22906	0.350000	0.25708	0.966000	0.64601	0.739000	0.26173	-0.431000	0.07307	-0.521000	0.04368	CGG	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077461.3		+	ENST00000356286.5	Missense_Mutation	SNP	20 : 400247 - 400247 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	86	20
NOTCH3	4854	broad.mit.edu	37	19	15299878	15299878	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15299878C>T	ENST00000263388.2	-	8	1375	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	434	EGF-like 11; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.E434K(1)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GACAGACACTCGTTGACATCG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											51	42	45			NA	NA	19		NA											NA				15299878		2203	4300	6503	SO:0001583	missense			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181	4854	4854		Ankyrin repeat domain containing	7883	protein-coding gene	gene with protein product		600276	Notch (Drosophila) homolog 3, Notch homolog 3 (Drosophila)	CADASIL	NA	7835890	Standard	NM_000435	NM_000435	NA	Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.1300G>A	19.37:g.15299878C>T	ENSP00000263388:p.Glu434Lys	NA	Q9UEB3|Q9UPL3|Q9Y6L8	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	34	5.300635	0.95601	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.98849	-5.18	4.77	4.77	0.60923	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.99149	0.9706	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99541	1.0963	9	0.87932	D	0	.	16.582	0.84717	0.0:1.0:0.0:0.0	.	437;434	Q59FL3;Q9UM47	.;NOTC3_HUMAN	K	434;436	ENSP00000263388:E434K	ENSP00000263388:E434K	E	-	1	0	NOTCH3	15160878	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.934000	0.70138	2.202000	0.70862	0.561000	0.74099	GAG	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465714.1		-	ENST00000263388.2	Missense_Mutation	SNP	19 : 15299878 - 15299878 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	85
PITRM1	10531	broad.mit.edu	37	10	3205979	3205979	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:3205979C>T	ENST00000224949.4	-	7	763	c.729G>A	c.(727-729)ccG>ccA	p.P243P	PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380989.2_Silent_p.P243P|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000451104.2_Silent_p.P211P			E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	211					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						ATGTAAGCTCCGGGATGCACA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	127	127			NA	NA	10		NA											NA				3205979		1962	4156	6118	SO:0001819	synonymous_variant			AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959	10531	10531			17663	protein-coding gene	gene with protein product	PreP peptidasome		pitrilysin metalloproteinase 1		NA	1036083, 10470851, 16849325	Standard		NM_014889	NA	Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.729G>A	10.37:g.3205979C>T		NA		37	CCDS59208.1																																																																																			PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046469.2		-	ENST00000224949.4	Silent	SNP	10 : 3205979 - 3205979 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	420	78
GFRA3	2676	broad.mit.edu	37	5	137588741	137588741	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137588741T>G	ENST00000274721.3	-	8	1365	c.1119A>C	c.(1117-1119)gaA>gaC	p.E373D	GFRA3_ENST00000378362.3_Missense_Mutation_p.E342D	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	373					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAGCAGGGTTTTCATTCTGTG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	69	66			NA	NA	5		NA											NA				137588741		2203	4300	6503	SO:0001583	missense			AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013	2676	2676			4245	protein-coding gene	gene with protein product		605710			NA	9407096	Standard	NM_001496	NM_001496	NA	Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.1119A>C	5.37:g.137588741T>G	ENSP00000274721:p.Glu373Asp	NA	B2RA36|B4DMY9|Q6UW20|Q8IUZ2	37	CCDS4201.1	.	.	.	.	.	.	.	.	.	.	T	7.554	0.663249	0.14710	.	.	ENSG00000146013	ENST00000274721;ENST00000378362	T;T	0.44083	1.52;0.93	5.34	1.24	0.21308	.	1.200820	0.05729	N	0.599266	T	0.26991	0.0661	N	0.14661	0.345	0.09310	N	1	B;B	0.13145	0.007;0.004	B;B	0.13407	0.009;0.004	T	0.20638	-1.0269	10	0.16420	T	0.52	0.7164	10.7655	0.46291	0.0:0.0:0.5013:0.4987	.	342;373	O60609-2;O60609	.;GFRA3_HUMAN	D	373;342	ENSP00000274721:E373D;ENSP00000367613:E342D	ENSP00000274721:E373D	E	-	3	2	GFRA3	137616640	0.012000	0.17670	0.002000	0.10522	0.140000	0.21249	-0.101000	0.10973	0.428000	0.26173	0.528000	0.53228	GAA	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251277.1		-	ENST00000274721.3	Missense_Mutation	SNP	5 : 137588741 - 137588741 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	149	31
ZFP14	57677	broad.mit.edu	37	19	36831798	36831798	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36831798C>A	ENST00000270001.7	-	5	1045	c.930G>T	c.(928-930)aaG>aaT	p.K310N		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					ATTCATAGAGCTTTTCAGCAG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	101	100			NA	NA	19		NA											NA				36831798		2203	4300	6503	SO:0001583	missense			AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065	57677	57677		Zinc fingers, C2H2-type, -	29312	protein-coding gene	gene with protein product			zinc finger protein 14 homolog (mouse)		NA	10997877	Standard	NM_020917	NM_020917	NA	Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.930G>T	19.37:g.36831798C>A	ENSP00000270001:p.Lys310Asn	NA	A7MD23	37	CCDS33002.1	.	.	.	.	.	.	.	.	.	.	c	14.08	2.428675	0.43122	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.26067	1.76	3.92	-2.22	0.06952	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47852	D	0.000215	T	0.38081	0.1027	M	0.70787	2.145	0.80722	D	1	D;D	0.65815	0.995;0.99	D;D	0.65987	0.94;0.94	T	0.28681	-1.0036	10	0.87932	D	0	.	5.1856	0.15182	0.1533:0.2845:0.0:0.5622	.	310;310	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	N	310	ENSP00000270001:K310N	ENSP00000270001:K310N	K	-	3	2	ZFP14	41523638	0.022000	0.18835	0.988000	0.46212	0.970000	0.65996	-0.718000	0.04980	-0.155000	0.11098	-0.311000	0.09066	AAG	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452528.1		-	ENST00000270001.7	Missense_Mutation	SNP	19 : 36831798 - 36831798 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	538	98
FCHSD2	9873	broad.mit.edu	37	11	72578921	72578921	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72578921T>C	ENST00000458644.2	-	13	1259	c.889A>G	c.(889-891)Act>Gct	p.T297A	FCHSD2_ENST00000311172.7_Missense_Mutation_p.T377A|FCHSD2_ENST00000409314.1_Missense_Mutation_p.T457A|FCHSD2_ENST00000409853.1_Missense_Mutation_p.T377A|FCHSD2_ENST00000409418.4_Missense_Mutation_p.T433A			O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	433							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			GAGTGTAAAGTGCCATTACTG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	75	77			NA	NA	11		NA											NA				72578921		2200	4293	6493	SO:0001583	missense			AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478	9873	9873			29114	protein-coding gene	gene with protein product			SH3 multiple domains 3	SH3MD3	NA	9872452, 15067381	Standard	NM_014824	NM_014824	NA	Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000458644.2:c.889A>G	11.37:g.72578921T>C	ENSP00000402972:p.Thr297Ala	NA	B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	37		.	.	.	.	.	.	.	.	.	.	T	5.766	0.325774	0.10900	.	.	ENSG00000137478	ENST00000311172;ENST00000409314;ENST00000409418;ENST00000458644;ENST00000409853	T;T;T;T;T	0.42131	2.58;2.67;2.69;2.55;0.98	5.78	4.62	0.57501	.	0.957063	0.08803	N	0.891462	T	0.14485	0.0350	N	0.00926	-1.1	0.28941	N	0.890961	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.15665	-1.0429	10	0.06625	T	0.88	-17.6345	8.3069	0.32047	0.3462:0.0:0.0:0.6538	.	297;433;377	E7ENZ2;O94868;O94868-3	.;FCSD2_HUMAN;.	A	377;457;433;297;377	ENSP00000308978:T377A;ENSP00000386987:T457A;ENSP00000386722:T433A;ENSP00000402972:T297A;ENSP00000386314:T377A	ENSP00000308978:T377A	T	-	1	0	FCHSD2	72256569	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.518000	0.35877	2.198000	0.70561	0.533000	0.62120	ACT	FCHSD2-008	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000397326.1		-	ENST00000458644.2	Missense_Mutation	SNP	11 : 72578921 - 72578921 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	103	15
MUC5B	727897	broad.mit.edu	37	11	1251768	1251768	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1251768G>A	ENST00000529681.1	+	12	1466	c.1408G>A	c.(1408-1410)Ggc>Agc	p.G470S	MUC5B_ENST00000447027.1_Missense_Mutation_p.G473S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	470	VWFD 2.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCGGAAGTGCGGCCTGACGGA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	SER/GLY	1,4257		0,1,2128	44	53	50		1408	4.1	0	11		50	0,8464		0,0,4232	no	missense	MUC5B	NM_002458.2	56	0,1,6360	AA,AG,GG	NA	0.0,0.0235,0.0079	probably-damaging	470/5763	1251768	1,12721	2129	4232	6361	SO:0001583	missense			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983	727897	727897		Mucins	7516	protein-coding gene	gene with protein product		600770	mucin 5, subtype B, tracheobronchial	MUC5	NA	9804771	Standard	XM_001126093	NM_002458	NA	Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.1408G>A	11.37:g.1251768G>A	ENSP00000436812:p.Gly470Ser	NA	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433412	0.25813	2.35E-4	0.0	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.58358	0.34;0.34	4.13	4.13	0.48395	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.73241	0.3562	M	0.83953	2.67	0.40202	D	0.977524	D;D;D	0.76494	0.998;0.999;0.999	P;D;D	0.66716	0.831;0.925;0.946	T	0.80484	-0.1362	9	0.87932	D	0	.	15.9972	0.80260	0.0:0.0:1.0:0.0	.	470;1129;473	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	S	470;473;471;506	ENSP00000436812:G470S;ENSP00000415793:G473S	ENSP00000343037:G471S	G	+	1	0	MUC5B	1208344	1.000000	0.71417	0.025000	0.17156	0.001000	0.01503	6.924000	0.75823	1.851000	0.53745	0.305000	0.20034	GGC	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390041.2		+	ENST00000529681.1	Missense_Mutation	SNP	11 : 1251768 - 1251768 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	133	18
SHPRH	257218	broad.mit.edu	37	6	146275891	146275891	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146275891C>A	ENST00000367505.2	-	2	832	c.568G>T	c.(568-570)Ggg>Tgg	p.G190W	SHPRH_ENST00000275233.7_Missense_Mutation_p.G190W|SHPRH_ENST00000438092.2_Missense_Mutation_p.G190W|SHPRH_ENST00000367503.3_Missense_Mutation_p.G190W			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	190					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGTAGCCACCCCAAATCTTCT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	111	113			NA	NA	6		NA											NA				146275891		1842	4102	5944	SO:0001583	missense			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414	257218	257218		RING-type (C3HC4) zinc fingers	19336	protein-coding gene	gene with protein product		608048	SNF2 histone linker PHD RING helicase		NA	12837266	Standard	NM_173082	NM_001042683	NA	Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.568G>T	6.37:g.146275891C>A	ENSP00000356475:p.Gly190Trp	NA	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	37	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945785	0.53079	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.66	4.68	0.58851	.	0.686958	0.14236	N	0.332375	T	0.41119	0.1145	L	0.36672	1.1	0.22317	N	0.999206	D;P;P;P	0.54964	0.969;0.911;0.947;0.83	P;B;P;B	0.49528	0.614;0.39;0.594;0.311	T	0.45498	-0.9257	10	0.66056	D	0.02	-5.7981	3.7092	0.08413	0.0:0.6591:0.0:0.3409	.	79;190;190;79	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	W	190;190;190;190;79	ENSP00000356475:G190W;ENSP00000356473:G190W;ENSP00000412797:G190W;ENSP00000275233:G190W	ENSP00000275233:G190W	G	-	1	0	SHPRH	146317584	0.997000	0.39634	0.960000	0.40013	0.600000	0.36913	4.332000	0.59279	2.672000	0.90937	0.655000	0.94253	GGG	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042571.2		-	ENST00000367505.2	Missense_Mutation	SNP	6 : 146275891 - 146275891 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	468	76
REST	5978	broad.mit.edu	37	4	57796731	57796731	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57796731A>C	ENST00000309042.7	+	4	2021	c.1707A>C	c.(1705-1707)aaA>aaC	p.K569N		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	569	Lys-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AGGAGAATAAAAAGCAAAATA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	20	19			NA	NA	4		NA											NA				57796731		2187	4290	6477	SO:0001583	missense			U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093	5978	5978			9966	protein-coding gene	gene with protein product		600571			NA	7871435, 7697725	Standard	NM_005612	NM_005612	NA	Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.1707A>C	4.37:g.57796731A>C	ENSP00000311816:p.Lys569Asn	NA	A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	37	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.931575	0.52866	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.42513	0.97	5.59	-1.26	0.09376	.	0.631179	0.15334	N	0.267877	T	0.56673	0.2001	M	0.71581	2.175	0.47905	D	0.999548	D;D	0.76494	0.999;0.986	D;P	0.68192	0.956;0.843	T	0.58612	-0.7606	10	0.62326	D	0.03	-5.6695	10.1506	0.42791	0.6404:0.0:0.3596:0.0	.	546;569	F8WAN5;Q13127	.;REST_HUMAN	N	569;546	ENSP00000311816:K569N	ENSP00000311816:K569N	K	+	3	2	REST	57491488	0.997000	0.39634	0.279000	0.24732	0.478000	0.33099	0.618000	0.24373	-0.182000	0.10602	-0.366000	0.07423	AAA	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250691.2		+	ENST00000309042.7	Missense_Mutation	SNP	4 : 57796731 - 57796731 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	161	8
ACAD10	80724	broad.mit.edu	37	12	112182630	112182630	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112182630G>A	ENST00000455480.2	+	14	2168	c.1991G>A	c.(1990-1992)aGc>aAc	p.S664N	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000313698.4_Missense_Mutation_p.S633N|ACAD10_ENST00000549590.1_Missense_Mutation_p.S633N|ACAD10_ENST00000392636.2_Missense_Mutation_p.S235N	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	633							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CCCACAGGCAGCAGGAGTTAT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	68	70			NA	NA	12		NA											NA				112182630		2203	4300	6503	SO:0001583	missense			AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271	80724	80724			21597	protein-coding gene	gene with protein product		611181	acyl-Coenzyme A dehydrogenase family, member 10		NA	15560374	Standard	NM_025247	NM_025247	NA	Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000455480.2:c.1991G>A	12.37:g.112182630G>A	ENSP00000389813:p.Ser664Asn	NA	Q8N828|Q8NAP2|Q96BX5	37	CCDS44973.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496691	0.26861	.	.	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000549590;ENST00000455480;ENST00000515283;ENST00000313698;ENST00000507683	D;T;D;D	0.96300	-3.97;3.27;-3.58;-3.58	5.42	-4.51	0.03483	.	1.722210	0.02874	N	0.132029	D	0.89283	0.6671	N	0.12182	0.205	0.09310	N	1	B;B;B	0.15719	0.014;0.0;0.0	B;B;B	0.18263	0.021;0.0;0.001	D	0.83890	0.0284	10	0.16896	T	0.51	.	6.0316	0.19683	0.0:0.2892:0.3121:0.3986	.	664;633;633	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	N	235;633;633;664;26;633;214	ENSP00000376411:S235N;ENSP00000446959:S633N;ENSP00000389813:S664N;ENSP00000325137:S633N	ENSP00000325137:S633N	S	+	2	0	ACAD10	110667013	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.299000	0.02754	-1.483000	0.01858	-0.128000	0.14901	AGC	ACAD10-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368308.2		+	ENST00000455480.2	Missense_Mutation	SNP	12 : 112182630 - 112182630 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	401	60
ROMO1	140823	broad.mit.edu	37	20	34288758	34288758	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34288758G>T	ENST00000374078.1	+	3	350	c.170G>T	c.(169-171)gGg>gTg	p.G57V	ROMO1_ENST00000336695.4_Missense_Mutation_p.G57V|ROMO1_ENST00000374077.3_Missense_Mutation_p.G57V|ROMO1_ENST00000397416.1_Missense_Mutation_p.G57V|ROMO1_ENST00000374072.1_3'UTR	NM_080748.2	NP_542786.1	P60602	ROMO1_HUMAN	reactive oxygen species modulator 1	57					cellular response to reactive oxygen species|positive regulation of cell proliferation|positive regulation of reactive oxygen species metabolic process|replicative cell aging	integral to membrane|mitochondrial membrane				cervix(1)	1						GGCGGCATTGGGAAAACCATG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	104	117			NA	NA	20		NA											NA				34288758		2203	4300	6503	SO:0001583	missense			AK000548	CCDS13264.1	20q11.22	2008-09-30	2008-09-30	2008-09-30	ENSG00000125995	ENSG00000125995	140823	140823			16185	protein-coding gene	gene with protein product	mitochondrial targeting GXXXG protein		chromosome 20 open reading frame 52	C20orf52	NA	18313394, 17537404, 16842742	Standard	NM_080748	NM_080748	NA	Approved	bA353C18.2, MTGMP	uc002xdy.3	P60602	OTTHUMG00000032360	ENST00000374078.1:c.170G>T	20.37:g.34288758G>T	ENSP00000363191:p.Gly57Val	NA	A7M872|E1P5R9|Q3MHD5|Q5QP16|Q9CQ98|Q9H1N2	37	CCDS13264.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885100	0.91814	.	.	ENSG00000125995	ENST00000374078;ENST00000374077;ENST00000397416;ENST00000336695	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.72112	0.3420	.	.	.	0.80722	D	1	D	0.63046	0.992	P	0.62649	0.905	T	0.76761	-0.2840	9	0.87932	D	0	.	18.1669	0.89731	0.0:0.0:1.0:0.0	.	57	P60602	ROMO1_HUMAN	V	57	ENSP00000363191:G57V;ENSP00000363190:G57V;ENSP00000380561:G57V;ENSP00000338293:G57V	ENSP00000338293:G57V	G	+	2	0	ROMO1	33752172	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.594000	0.98254	2.536000	0.85505	0.650000	0.86243	GGG	ROMO1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000126404.1		+	ENST00000374078.1	Missense_Mutation	SNP	20 : 34288758 - 34288758 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	452	65
CHRNA3	1136	broad.mit.edu	37	15	78893874	78893874	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78893874C>A	ENST00000348639.3	-	5	1610	c.1110G>T	c.(1108-1110)agG>agT	p.R370S	CHRNA3_ENST00000326828.5_Missense_Mutation_p.R370S	NM_001166694.1	NP_001160166.1	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	370					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGTAGAGGGGCCTCGGCTTCT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	76	78			NA	NA	15		NA											NA				78893874		2196	4293	6489	SO:0001583	missense				CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644	NA	1136		Cholinergic receptors, Ligand-gated ion channels / Acetylcholine receptors, nicotinic	1957	protein-coding gene	gene with protein product	acetylcholine receptor, nicotinic, alpha 3 (neuronal)	118503	cholinergic receptor, nicotinic, alpha polypeptide 3		NA	2004777	Standard		NM_000743	NA	Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000348639.3:c.1110G>T	15.37:g.78893874C>A	ENSP00000267951:p.Arg370Ser	NA	Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	37	CCDS53964.1	.	.	.	.	.	.	.	.	.	.	C	2.181	-0.387565	0.04932	.	.	ENSG00000080644	ENST00000348639;ENST00000326828;ENST00000326858	T;T	0.70282	-0.47;-0.47	6.02	-2.19	0.07015	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.303789	0.38217	N	0.001774	T	0.55737	0.1939	L	0.37800	1.135	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.12156	0.007;0.007	T	0.41627	-0.9498	10	0.08837	T	0.75	.	17.5498	0.87872	0.0:0.7789:0.0:0.2211	.	370;370	P32297;P32297-3	ACHA3_HUMAN;.	S	370;370;234	ENSP00000267951:R370S;ENSP00000315602:R370S	ENSP00000315602:R370S	R	-	3	2	CHRNA3	76680929	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.062000	0.11674	-0.473000	0.06871	0.655000	0.94253	AGG	CHRNA3-002	KNOWN	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000290112.2		-	ENST00000348639.3	Missense_Mutation	SNP	15 : 78893874 - 78893874 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	448	89
MAGEB4	4115	broad.mit.edu	37	X	30261225	30261225	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:30261225C>T	ENST00000378982.2	+	1	1169	c.973C>T	c.(973-975)Cgt>Tgt	p.R325C		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	325										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						TGCAGCCAGGCGTGGCACTAC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG	0,3833		0,0,1631,571	49	43	45		973	0.3	0	X		45	1,6727		0,1,2427,1872	no	missense	MAGEB4	NM_002367.3	180	0,1,4058,2443	TT,TC,CC,C	NA	0.0149,0.0,0.0095	probably-damaging	325/347	30261225	1,10560	2202	4300	6502	SO:0001583	missense				CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289	4115	4115			6811	protein-coding gene	gene with protein product	melanoma-associated antigen B4, cancer/testis antigen family 3, member 6	300153			NA	9441743	Standard	NM_002367	NM_002367	NA	Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.973C>T	X.37:g.30261225C>T	ENSP00000368266:p.Arg325Cys	NA	B2R9G0|Q6FHH4|Q8IZ00	37	CCDS14221.1	.	.	.	.	.	.	.	.	.	.	C	8.888	0.953177	0.18431	0.0	1.49E-4	ENSG00000120289	ENST00000378982	T	0.01821	4.62	3.14	0.282	0.15692	.	.	.	.	.	T	0.00906	0.0030	N	0.03608	-0.345	0.09310	N	1	D	0.59357	0.985	B	0.39503	0.301	T	0.53585	-0.8418	9	0.54805	T	0.06	.	5.9274	0.19120	0.0:0.2501:0.5807:0.1692	.	325	O15481	MAGB4_HUMAN	C	325	ENSP00000368266:R325C	ENSP00000368266:R325C	R	+	1	0	MAGEB4	30171146	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.192000	0.09587	-0.060000	0.13132	-0.355000	0.07637	CGT	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056159.1		+	ENST00000378982.2	Missense_Mutation	SNP	X : 30261225 - 30261225 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	236	68
DOPEY1	23033	broad.mit.edu	37	6	83810551	83810551	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83810551T>G	ENST00000349129.2	+	4	526	c.266T>G	c.(265-267)aTt>aGt	p.I89S	DOPEY1_ENST00000536812.1_Missense_Mutation_p.I89S|DOPEY1_ENST00000369739.3_Missense_Mutation_p.I89S|DOPEY1_ENST00000237163.5_Missense_Mutation_p.I89S	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	89					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ACATATGAAATTATCTTCAAA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	166	161			NA	NA	6		NA											NA				83810551		2203	4300	6503	SO:0001583	missense			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097	23033	23033			21194	protein-coding gene	gene with protein product			KIAA1117	KIAA1117	NA	16301316, 16303751, 10931277	Standard	NM_015018	NM_015018	NA	Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.266T>G	6.37:g.83810551T>G	ENSP00000195654:p.Ile89Ser	NA	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	37	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	T	19.78	3.890540	0.72524	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000536812;ENST00000369739	T;T;T	0.24538	1.87;1.86;1.85	5.17	5.17	0.71159	Dopey, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.29588	0.0738	L	0.38649	1.16	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.85130	0.995;0.997;0.997	T	0.02885	-1.1098	10	0.32370	T	0.25	.	15.285	0.73822	0.0:0.0:0.0:1.0	.	89;89;89	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	S	89	ENSP00000195654:I89S;ENSP00000237163:I89S;ENSP00000358754:I89S	ENSP00000237163:I89S	I	+	2	0	DOPEY1	83867270	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.602000	0.82796	2.071000	0.62044	0.482000	0.46254	ATT	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043785.2		+	ENST00000349129.2	Missense_Mutation	SNP	6 : 83810551 - 83810551 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1409	258
COL11A1	1301	broad.mit.edu	37	1	103345315	103345315	+	Missense_Mutation	SNP	C	C	T	rs140250347	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:103345315C>T	ENST00000370096.3	-	66	5510	c.5198G>A	c.(5197-5199)cGc>cAc	p.R1733H	COL11A1_ENST00000353414.4_Missense_Mutation_p.R1694H|COL11A1_ENST00000512756.1_Missense_Mutation_p.R1617H|COL11A1_ENST00000358392.2_Missense_Mutation_p.R1745H	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1733	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.R1745P(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCCCAGGAAGCGAAGTGCTTT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	stomach(1)						C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406	4.2+/-10.8	0,0,2203	167	150	156		4850,5234,5198,5081	5.5	1	1	dbSNP_134	156	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense,missense	COL11A1	NM_080630.3,NM_080629.2,NM_001854.3,NM_001190709.1	29,29,29,29	0,3,6500	TT,TC,CC	NA	0.0349,0.0,0.0231	benign,benign,benign,benign	1617/1691,1745/1819,1733/1807,1694/1768	103345315	3,13003	2203	4300	6503	SO:0001583	missense			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718	1301	1301		Collagens	2186	protein-coding gene	gene with protein product	collagen XI, alpha-1 polypeptide	120280		COLL6	NA	3182841	Standard	NM_080630	NM_080630	NA	Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.5198G>A	1.37:g.103345315C>T	ENSP00000359114:p.Arg1733His	NA	B1ASK7|D3DT73|Q14034|Q9UIT4|Q9UIT5|Q9UIT6	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325201	0.81580	0.0	3.49E-4	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.52	5.52	0.82312	Fibrillar collagen, C-terminal (4);	0.057950	0.64402	D	0.000002	T	0.66025	0.2748	M	0.64567	1.98	0.58432	D	0.999994	B;B;B;B;B	0.25719	0.132;0.108;0.108;0.132;0.025	B;B;B;B;B	0.22386	0.039;0.023;0.023;0.039;0.011	T	0.65245	-0.6215	10	0.51188	T	0.08	.	19.7856	0.96434	0.0:1.0:0.0:0.0	.	1617;1694;1745;1733;953	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	H	1733;1745;1694;953;1617	ENSP00000359114:R1733H;ENSP00000351163:R1745H;ENSP00000302551:R1694H;ENSP00000426533:R1617H	ENSP00000302551:R1694H	R	-	2	0	COL11A1	103117903	1.000000	0.71417	0.998000	0.56505	0.690000	0.40134	6.009000	0.70745	2.747000	0.94245	0.591000	0.81541	CGC	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029997.1		-	ENST00000370096.3	Missense_Mutation	SNP	1 : 103345315 - 103345315 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	429	35
OGG1	4968	broad.mit.edu	37	3	9807626	9807626	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9807626C>A	ENST00000302036.7	+	7	1425	c.1082C>A	c.(1081-1083)tCc>tAc	p.S361Y	OGG1_ENST00000449570.2_3'UTR|CAMK1_ENST00000256460.3_Intron|OGG1_ENST00000302008.8_3'UTR|OGG1_ENST00000383826.5_3'UTR|OGG1_ENST00000349503.5_Missense_Mutation_p.S294Y	NM_016821.2	NP_058214.1	O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	0					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					CAGCTTCCCTCCAGCCTCTCC	0.577		NA						Base excision repair (BER), DNA glycosylases						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	66	70			NA	NA	3		NA											NA				9807626		2203	4300	6503	SO:0001583	missense			U96710	CCDS2576.1, CCDS2577.1, CCDS2578.1, CCDS2579.1, CCDS2580.1, CCDS2581.1, CCDS43046.1, CCDS46742.1	3p26	2010-11-23			ENSG00000114026	ENSG00000114026	4968	4968	3.2.2.-, 4.2.99.18		8125	protein-coding gene	gene with protein product	8-hydroxyguanine DNA glycosylase, OGG1 type 1e, OGG1 type 1d, OGG1 type 1g, OGG1 type 1h	601982			NA	9207108, 10449904	Standard	NM_016821	NM_002542	NA	Approved	HMMH, HOGG1, OGH1, MUTM	uc003bsj.3	O15527	OTTHUMG00000097091	ENST00000302036.7:c.1082C>A	3.37:g.9807626C>A	ENSP00000306561:p.Ser361Tyr	NA	A8K1E3|O00390|O00670|O00705|O14876|O95488|P78554|Q9BW42|Q9UIK0|Q9UIK1|Q9UIK2|Q9UL34|Q9Y2C0|Q9Y2C1|Q9Y6C3|Q9Y6C4	37	CCDS2576.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671888	0.47781	.	.	ENSG00000114026	ENST00000302036;ENST00000349503	T;T	0.63580	-0.05;0.95	3.51	-0.731	0.11151	.	1.710450	0.03226	N	0.178249	T	0.40522	0.1120	N	0.08118	0	0.09310	N	1	B;B	0.34181	0.44;0.164	B;B	0.34536	0.185;0.037	T	0.33240	-0.9876	10	0.54805	T	0.06	-2.0579	3.6462	0.08186	0.0:0.4499:0.1946:0.3556	.	294;361	E5KPM6;E5KPM5	.;.	Y	361;294	ENSP00000306561:S361Y;ENSP00000303132:S294Y	ENSP00000306561:S361Y	S	+	2	0	OGG1	9782626	0.002000	0.14202	0.001000	0.08648	0.079000	0.17450	0.580000	0.23803	-0.155000	0.11098	0.557000	0.71058	TCC	OGG1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214222.1		+	ENST00000302036.7	Missense_Mutation	SNP	3 : 9807626 - 9807626 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	332	64
OR5D16	390144	broad.mit.edu	37	11	55606577	55606577	+	Missense_Mutation	SNP	T	T	G	rs146679837		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55606577T>G	ENST00000378396.1	+	1	350	c.350T>G	c.(349-351)tTt>tGt	p.F117C		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TTAATTCTATTTGCGGTGATG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	119	120			NA	NA	11		NA											NA				55606577		2201	4296	6497	SO:0001583	missense			AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029	390144	390144		GPCR / Class A : Olfactory receptors	15283	protein-coding gene	gene with protein product					NA		Standard	NM_001005496	NM_001005496	NA	Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.350T>G	11.37:g.55606577T>G	ENSP00000367649:p.Phe117Cys	NA	Q6IF65|Q96RB4	37	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	15.47	2.844326	0.51164	.	.	ENSG00000205029	ENST00000378396	T	0.01359	4.98	4.47	3.31	0.37934	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.03651	0.0104	L	0.36672	1.1	0.19575	N	0.999961	D	0.57257	0.979	P	0.61275	0.886	T	0.44174	-0.9345	9	0.87932	D	0	-27.7796	8.5801	0.33623	0.0:0.0997:0.0:0.9003	.	117	Q8NGK9	OR5DG_HUMAN	C	117	ENSP00000367649:F117C	ENSP00000367649:F117C	F	+	2	0	OR5D16	55363153	0.831000	0.29352	0.002000	0.10522	0.757000	0.42996	5.597000	0.67577	0.694000	0.31654	0.433000	0.28618	TTT	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334506.1		+	ENST00000378396.1	Missense_Mutation	SNP	11 : 55606577 - 55606577 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	638	158
OR2L8	391190	broad.mit.edu	37	1	248112746	248112746	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248112746G>A	ENST00000357191.3	+	1	587	c.587G>A	c.(586-588)gGc>gAc	p.G196D	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	196			G -> C (in dbSNP:rs4925788).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GTCTATGAGGGCACAGTGTTT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	46	77			NA	NA	1		NA											NA				248112746		2203	4289	6492	SO:0001583	missense			BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936	391190	391190		GPCR / Class A : Olfactory receptors	15014	protein-coding gene	gene with protein product			olfactory receptor, family 2, subfamily L, member 8		NA		Standard		NM_001001963	NA	Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.587G>A	1.37:g.248112746G>A	ENSP00000349719:p.Gly196Asp	NA	Q6IF03	37	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	3.028	-0.200230	0.06219	.	.	ENSG00000196936	ENST00000357191	T	0.00091	8.74	1.21	-2.08	0.07254	GPCR, rhodopsin-like superfamily (1);	0.581525	0.12962	U	0.424910	T	0.00039	0.0001	N	0.01640	-0.785	0.09310	N	1	B	0.28178	0.202	B	0.29440	0.102	T	0.08310	-1.0728	10	0.35671	T	0.21	.	0.2585	0.00215	0.329:0.1455:0.2651:0.2604	.	196	Q8NGY9	OR2L8_HUMAN	D	196	ENSP00000349719:G196D	ENSP00000349719:G196D	G	+	2	0	OR2L8	246179369	0.000000	0.05858	0.701000	0.30321	0.651000	0.38670	-0.015000	0.12634	-0.726000	0.04895	0.479000	0.44913	GGC	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096853.2		+	ENST00000357191.3	Missense_Mutation	SNP	1 : 248112746 - 248112746 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	196	48
TPH2	121278	broad.mit.edu	37	12	72416266	72416266	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72416266G>T	ENST00000333850.3	+	9	1297	c.1156G>T	c.(1156-1158)Gaa>Taa	p.E386*		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	386					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CTCCATTGGAGAATTAAAGGT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	86	88			NA	NA	12		NA											NA				72416266		2203	4300	6503	SO:0001587	stop_gained			AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	121278	121278	1.14.16.4		20692	protein-coding gene	gene with protein product		607478			NA	12511643	Standard	NM_173353	NM_173353	NA	Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.1156G>T	12.37:g.72416266G>T	ENSP00000329093:p.Glu386*	NA	A6NGA4|Q14CB0	37	CCDS31859.1	.	.	.	.	.	.	.	.	.	.	G	39	7.518037	0.98332	.	.	ENSG00000139287	ENST00000333850	.	.	.	5.98	5.98	0.97165	.	0.048507	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-30.5335	20.452	0.99131	0.0:0.0:1.0:0.0	.	.	.	.	X	386	.	ENSP00000329093:E386X	E	+	1	0	TPH2	70702533	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.869000	0.99810	2.838000	0.97847	0.591000	0.81541	GAA	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405234.1		+	ENST00000333850.3	Nonsense_Mutation	SNP	12 : 72416266 - 72416266 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	61
RGS17	26575	broad.mit.edu	37	6	153347642	153347642	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:153347642C>T	ENST00000367225.2	-	2	180	c.156G>A	c.(154-156)gcG>gcA	p.A52A	RGS17_ENST00000206262.1_Silent_p.A52A			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	52					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	p.A52A(1)		cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		TGGGTCTTCCCGCATTTTCCC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(78;500 1236 6775 24364 49058)							NA				1	Substitution - coding silent(1)	lung(1)											326	240	269			NA	NA	6		NA											NA				153347642		2203	4300	6503	SO:0001819	synonymous_variant			AF202257	CCDS5244.1	6q25-q26	2009-05-29	2007-08-14		ENSG00000091844	ENSG00000091844	26575	26575		Regulators of G-protein signaling	14088	protein-coding gene	gene with protein product		607191	regulator of G-protein signalling 17		NA	10419452	Standard		NM_012419	NA	Approved	RGSZ2, RGS-17	uc003qpm.3	Q9UGC6	OTTHUMG00000015858	ENST00000367225.2:c.156G>A	6.37:g.153347642C>T		NA	Q5TF49|Q8TD61|Q9UJS8	37	CCDS5244.1																																																																																			RGS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042773.2		-	ENST00000367225.2	Silent	SNP	6 : 153347642 - 153347642 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	582	98
DEPDC1B	55789	broad.mit.edu	37	5	59940639	59940639	+	Silent	SNP	C	C	T	rs141096982	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:59940639C>T	ENST00000265036.5	-	5	709	c.642G>A	c.(640-642)tcG>tcA	p.S214S	DEPDC1B_ENST00000545085.1_Silent_p.S187S|DEPDC1B_ENST00000453022.2_Silent_p.S214S	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	214	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				TGATGAACTTCGAATTGACAA	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	8,4398	14.3+/-33.2	0,8,2195	94	93	93		642,642	-0.7	1	5	dbSNP_134	93	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	DEPDC1B	NM_001145208.1,NM_018369.2	,	0,8,6495	TT,TC,CC	NA	0.0,0.1816,0.0615	,	214/468,214/530	59940639	8,12998	2203	4300	6503	SO:0001819	synonymous_variant			AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499	55789	55789			24902	protein-coding gene	gene with protein product	breast cancer cell 3				NA	12477932	Standard	NM_018369	NM_001145208	NA	Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.642G>A	5.37:g.59940639C>T		NA	A8K3R9|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	37	CCDS3977.1																																																																																			DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214207.1		-	ENST00000265036.5	Silent	SNP	5 : 59940639 - 59940639 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	41
SPSB4	92369	broad.mit.edu	37	3	140785540	140785540	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:140785540C>T	ENST00000310546.2	+	2	1338	c.594C>T	c.(592-594)ggC>ggT	p.G198G		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	198	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						AGTACCTGGGCGTGGCCTTCC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	53	55			NA	NA	3		NA											NA				140785540		2203	4300	6503	SO:0001819	synonymous_variant				CCDS3115.1	3q23	2008-02-05			ENSG00000175093	ENSG00000175093	92369	92369			30630	protein-coding gene	gene with protein product		611660			NA	12076535	Standard	NM_080862	NM_080862	NA	Approved	SSB-4	uc003ett.3	Q96A44	OTTHUMG00000160223	ENST00000310546.2:c.594C>T	3.37:g.140785540C>T		NA		37	CCDS3115.1																																																																																			SPSB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359727.1		+	ENST00000310546.2	Silent	SNP	3 : 140785540 - 140785540 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	227	29
EVC2	132884	broad.mit.edu	37	4	5633732	5633732	+	Missense_Mutation	SNP	G	G	A	rs148248777		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5633732G>A	ENST00000310917.2	-	11	1989	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W	EVC2_ENST00000344938.1_Missense_Mutation_p.R500W|EVC2_ENST00000344408.5_Missense_Mutation_p.R500W	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	500						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TGGAGGGTCCGCAGAAGGTTG	0.512		NA											G	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0													68	66	67			NA	NA	4		NA											NA				5633732		2203	4300	6503	SO:0001583	missense			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040	132884	132884			19747	protein-coding gene	gene with protein product		607261			NA	12136126, 12571802	Standard	NM_147127	NM_147127	NA	Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000310917.2:c.1258C>T	4.37:g.5633732G>A	ENSP00000311683:p.Arg420Trp	NA	Q86YT3|Q86YT4|Q8NG49	37	CCDS54718.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.34	2.207709	0.39003	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.78481	-1.18;-1.18;-1.18	4.79	1.85	0.25348	.	0.170692	0.39985	N	0.001208	D	0.82296	0.5006	L	0.57536	1.79	0.35279	D	0.781174	D	0.89917	1.0	D	0.73708	0.981	D	0.84025	0.0356	10	0.72032	D	0.01	-44.7623	7.5351	0.27706	0.0:0.3201:0.434:0.2458	.	500	Q86UK5	LBN_HUMAN	W	500;420;500	ENSP00000339954:R500W;ENSP00000311683:R420W;ENSP00000342144:R500W	ENSP00000311683:R420W	R	-	1	2	EVC2	5684633	1.000000	0.71417	0.979000	0.43373	0.032000	0.12392	1.242000	0.32755	0.516000	0.28340	0.505000	0.49811	CGG	EVC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000246819.3		-	ENST00000310917.2	Missense_Mutation	SNP	4 : 5633732 - 5633732 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	311	50
TNIK	23043	broad.mit.edu	37	3	170857333	170857333	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170857333G>A	ENST00000436636.2	-	14	1689	c.1345C>T	c.(1345-1347)Cga>Tga	p.R449*	TNIK_ENST00000369326.5_Intron|TNIK_ENST00000284483.8_Nonsense_Mutation_p.R449*|TNIK_ENST00000538048.1_Nonsense_Mutation_p.R449*|TNIK_ENST00000470834.1_Intron|TNIK_ENST00000341852.6_Intron|TNIK_ENST00000460047.1_Nonsense_Mutation_p.R449*|TNIK_ENST00000475336.1_Intron|TNIK_ENST00000488470.1_Nonsense_Mutation_p.R449*|TNIK_ENST00000357327.5_Intron	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	449	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCTAACTGTCGCCTGATGTAT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	150	154			NA	NA	3		NA											NA				170857333		1929	4144	6073	SO:0001587	stop_gained			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310	23043	23043			30765	protein-coding gene	gene with protein product		610005			NA	9628581, 10521462	Standard	XM_039796	NR_027767	NA	Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1345C>T	3.37:g.170857333G>A	ENSP00000399511:p.Arg449*	NA	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	37	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	G	42	9.242205	0.99111	.	.	ENSG00000154310	ENST00000436636;ENST00000538048;ENST00000284483;ENST00000460047;ENST00000488470	.	.	.	5.63	4.72	0.59763	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.972	0.80027	0.0:0.0:0.8648:0.1352	.	.	.	.	X	449	.	ENSP00000284483:R449X	R	-	1	2	TNIK	172340027	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.035000	0.64158	2.648000	0.89879	0.591000	0.81541	CGA	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352973.2		-	ENST00000436636.2	Nonsense_Mutation	SNP	3 : 170857333 - 170857333 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	685	141
SMYD5	10322	broad.mit.edu	37	2	73450209	73450209	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73450209A>G	ENST00000389501.4	+	8	796	c.751A>G	c.(751-753)Acc>Gcc	p.T251A		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	251	SET.						metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						TCTTGTTGGGACCAATGGCCA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	157	158			NA	NA	2		NA											NA				73450209		2203	4300	6503	SO:0001583	missense			U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632	10322	10322		Zinc fingers, MYND-type	16258	protein-coding gene	gene with protein product			retinoic acid induced 15	RAI15	NA	8754834	Standard	NM_006062	NM_006062	NA	Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.751A>G	2.37:g.73450209A>G	ENSP00000374152:p.Thr251Ala	NA	D6W5H3|Q13558	37	CCDS33221.2	.	.	.	.	.	.	.	.	.	.	A	27.5	4.838105	0.91117	.	.	ENSG00000135632	ENST00000389501	T	0.80653	-1.4	4.39	4.39	0.52855	SET domain (2);	0.094256	0.64402	D	0.000001	D	0.86276	0.5894	M	0.78049	2.395	0.80722	D	1	D	0.64830	0.994	P	0.62298	0.9	D	0.83964	0.0323	10	0.14252	T	0.57	-18.4045	12.8616	0.57915	1.0:0.0:0.0:0.0	.	251	Q6GMV2	SMYD5_HUMAN	A	251	ENSP00000374152:T251A	ENSP00000374152:T251A	T	+	1	0	SMYD5	73303717	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.175000	0.89684	1.995000	0.58328	0.402000	0.26972	ACC	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318301.1		+	ENST00000389501.4	Missense_Mutation	SNP	2 : 73450209 - 73450209 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	997	256
ERCC2	2068	broad.mit.edu	37	19	45867704	45867704	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45867704G>T	ENST00000391945.4	-	8	773	c.696C>A	c.(694-696)gtC>gtA	p.V232V	ERCC2_ENST00000221481.6_Intron|ERCC2_ENST00000391940.4_Silent_p.V208V|ERCC2_ENST00000485403.2_Silent_p.V208V|ERCC2_ENST00000391944.3_Silent_p.V154V	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	232	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CCTCGTCGAAGACCACGACGG	0.632		NA	Mis, N, F, S			skin basal cell, skin squamous cell, melanoma		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)		E	0													43	37	39			NA	NA	19		NA											NA				45867704		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	2068	2068	3.6.4.12	General transcription factor IIH complex subunits	3434	protein-coding gene	gene with protein product	excision repair cross-complementing rodent repair deficiency, complementation group 2 protein, TFIIH basal transcription factor complex helicase XPB subunit	126340	xeroderma pigmentosum complementary group D, excision repair cross-complementing rodent repair deficiency, complementation group 2	XPD	NA	8413672, 2184031	Standard	NM_000400	NM_000400	NA	Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.696C>A	19.37:g.45867704G>T		NA	Q2TB78|Q2YDY2|Q8N721	37	CCDS33049.1																																																																																			ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109626.2		-	ENST00000391945.4	Silent	SNP	19 : 45867704 - 45867704 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	212	30
ITSN1	6453	broad.mit.edu	37	21	35208915	35208915	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35208915G>T	ENST00000381318.3	+	29	3928	c.3640G>T	c.(3640-3642)Gac>Tac	p.D1214Y	ITSN1_ENST00000399353.1_Missense_Mutation_p.D1172Y|ITSN1_ENST00000399367.3_Missense_Mutation_p.D1209Y|ITSN1_ENST00000379960.5_3'UTR|ITSN1_ENST00000399355.2_Missense_Mutation_p.D1143Y|ITSN1_ENST00000381285.4_Missense_Mutation_p.D1214Y|ITSN1_ENST00000399326.3_3'UTR|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.D1209Y|ITSN1_ENST00000381291.4_Missense_Mutation_p.D1214Y|ITSN1_ENST00000399349.1_Missense_Mutation_p.D1138Y|ITSN1_ENST00000399352.1_Missense_Mutation_p.D1209Y	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1214	SH3 5.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	p.D1214H(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GCTGACCACAGACATGGACCC	0.522		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)											104	94	98			NA	NA	21		NA											NA				35208915		2203	4300	6503	SO:0001583	missense			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726	6453	6453		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing, EF-hand domain containing	6183	protein-coding gene	gene with protein product	SH3 domain protein-1A, human intersectin-SH3 domain-containing protein SH3P17, Src homology 3 domain-containing protein, intersectin 1 short form variant, 11, intersectin 1 short form variant 3, intersectin short variant 12	602442		SH3D1A, ITSN	NA	9799604, 9813051	Standard	NM_003024	NM_003024	NA	Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3640G>T	21.37:g.35208915G>T	ENSP00000370719:p.Asp1214Tyr	NA	O95216|Q1ED40|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	37	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446412	0.63178	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000437442	T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	4.51	4.51	0.55191	Src homology-3 domain (2);	0.000000	0.85682	D	0.000000	T	0.48205	0.1487	L	0.41824	1.3	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;0.981;1.0;0.994;1.0;0.999;0.998;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.992;0.999;0.954;0.986;0.994;0.968;0.927;0.996;0.998	T	0.52653	-0.8547	10	0.87932	D	0	.	17.2445	0.87023	0.0:0.0:1.0:0.0	.	1106;1177;1101;1209;1143;1209;1214;1138;1172	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;ITSN1_HUMAN;.;.	Y	1172;1214;1214;1214;1143;1209;1209;1143;1138;1209	ENSP00000382290:D1172Y;ENSP00000370719:D1214Y;ENSP00000370691:D1214Y;ENSP00000370685:D1214Y;ENSP00000382301:D1209Y;ENSP00000382289:D1209Y;ENSP00000382292:D1143Y;ENSP00000382286:D1138Y;ENSP00000387377:D1209Y	ENSP00000370685:D1214Y	D	+	1	0	ITSN1	34130785	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.268000	0.95675	2.059000	0.61396	0.637000	0.83480	GAC	ITSN1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000140070.4		+	ENST00000381318.3	Missense_Mutation	SNP	21 : 35208915 - 35208915 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	418	27
DCSTAMP	81501	broad.mit.edu	37	8	105367128	105367128	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105367128C>T	ENST00000517991.1	+	2	839				DCSTAMP_ENST00000297581.2_Silent_p.I351I|DPYS_ENST00000521601.1_Intron	NM_001257317.1	NP_001244246.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	NA					osteoclast differentiation	cell surface|integral to membrane|plasma membrane					NA						AAGATATTATCCATGATTCTT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	68	69			NA	NA	8		NA											NA				105367128		2203	4300	6503	SO:0001627	intron_variant			AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935	81501	81501			18549	protein-coding gene	gene with protein product	Dendritic cells (DC)-specific transmembrane protein, IL-Four INDuced	605933	transmembrane 7 superfamily member 4	TM7SF4	NA	11169400, 11345591	Standard	NM_030788	NM_030788	NA	Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000517991.1:c.828-1224C>T	8.37:g.105367128C>T		NA	Q2M2D5	37	CCDS59111.1																																																																																			DCSTAMP-007	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380811.1		+	ENST00000517991.1	Intron	SNP	8 : 105367128 - 105367128 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	182	43
TRMT10A	93587	broad.mit.edu	37	4	100479236	100479236	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100479236G>A	ENST00000273962.3	-	3	630	c.318C>T	c.(316-318)gaC>gaT	p.D106D	TRMT10A_ENST00000394876.2_Silent_p.D106D|TRMT10A_ENST00000394877.3_Silent_p.D106D	NM_152292.4	NP_689505.1			tRNA methyltransferase 10 homolog A (S. cerevisiae)	NA											NA						CAAAACTACAGTCAATAATAA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													192	156	168			NA	NA	4		NA											NA				100479236		2203	4300	6503	SO:0001819	synonymous_variant			BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331	93587	93587			28403	protein-coding gene	gene with protein product			RNA (guanine-9-) methyltransferase domain containing 2	RG9MTD2	NA	12477932	Standard	NM_152292	NM_152292	NA	Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.318C>T	4.37:g.100479236G>A		NA		37	CCDS3650.1																																																																																			TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253668.1		-	ENST00000273962.3	Silent	SNP	4 : 100479236 - 100479236 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	190	33
OR4C46	119749	broad.mit.edu	37	11	51516165	51516165	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:51516165C>T	ENST00000328188.1	+	1	884	c.884C>T	c.(883-885)gCc>gTc	p.A295V		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						ATGAAAAATGCCATCAGGAAA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	39	41			NA	NA	11		NA											NA				51516165		2200	4287	6487	SO:0001583	missense				CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926	119749	119749		GPCR / Class A : Olfactory receptors	31271	protein-coding gene	gene with protein product		614273			NA		Standard	NM_001004703	NM_001004703	NA	Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.884C>T	11.37:g.51516165C>T	ENSP00000329056:p.Ala295Val	NA		37	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	5.904	0.350805	0.11182	.	.	ENSG00000185926	ENST00000328188	T	0.44881	0.91	2.54	1.6	0.23607	.	0.000000	0.37809	U	0.001934	T	0.35128	0.0921	L	0.58302	1.8	0.23981	N	0.996275	B	0.30727	0.292	B	0.31191	0.125	T	0.29181	-1.0020	10	0.59425	D	0.04	.	7.0259	0.24940	0.0:0.8499:0.0:0.1501	.	295	A6NHA9	O4C46_HUMAN	V	295	ENSP00000329056:A295V	ENSP00000329056:A295V	A	+	2	0	OR4C46	51372741	0.001000	0.12720	0.633000	0.29310	0.093000	0.18481	1.114000	0.31196	0.409000	0.25649	0.186000	0.17326	GCC	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391155.1		+	ENST00000328188.1	Missense_Mutation	SNP	11 : 51516165 - 51516165 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	405	73
GRIN2A	2903	broad.mit.edu	37	16	9857650	9857650	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:9857650C>T	ENST00000396573.2	-	14	4060	c.3751G>A	c.(3751-3753)Gac>Aac	p.D1251N	GRIN2A_ENST00000535259.1_Missense_Mutation_p.D1094N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D1251N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D1251N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D1251N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D1251N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1251					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGCATCTGGTCTTCATCGATG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	110	113			NA	NA	16		NA											NA				9857650		2197	4300	6497	SO:0001583	missense				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454	NA	2903		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4585	protein-coding gene	gene with protein product		138253		NMDAR2A	NA	9480759	Standard		XM_005255267	NA	Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3751G>A	16.37:g.9857650C>T	ENSP00000379818:p.Asp1251Asn	NA	O00669	37	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302940	0.81136	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.50813	0.73;1.76;1.83;0.73;0.73	5.11	5.11	0.69529	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71771	0.3379	M	0.82323	2.585	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	0.999;1.0;0.995	T	0.75102	-0.3436	9	.	.	.	.	17.5377	0.87837	0.0:1.0:0.0:0.0	.	1094;1251;1251	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	N	1251;1251;1094;1251;1251	ENSP00000379818:D1251N;ENSP00000385872:D1251N;ENSP00000441572:D1094N;ENSP00000332549:D1251N;ENSP00000379820:D1251N	.	D	-	1	0	GRIN2A	9765151	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.392000	0.79840	2.365000	0.80145	0.655000	0.94253	GAC	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251930.3		-	ENST00000396573.2	Missense_Mutation	SNP	16 : 9857650 - 9857650 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	522	106
RFX7	64864	broad.mit.edu	37	15	56385880	56385880	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56385880G>A	ENST00000559447.2	-	9	4026	c.3755C>T	c.(3754-3756)aCt>aTt	p.T1252I	RFX7_ENST00000317318.6_Missense_Mutation_p.T1349I|RFX7_ENST00000423270.1_Missense_Mutation_p.T1349I|RFX7_ENST00000422057.1_Missense_Mutation_p.T1252I			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	1252					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GTCTTTAACAGTGCTATTGAA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	93	94			NA	NA	15		NA											NA				56385880		1907	4119	6026	SO:0001583	missense					15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827	64864	64864			25777	protein-coding gene	gene with protein product		612660	regulatory factor X domain containing 2	RFXDC2	NA		Standard	NM_022841	NM_022841	NA	Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.3755C>T	15.37:g.56385880G>A	ENSP00000453281:p.Thr1252Ile	NA	Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	37		.	.	.	.	.	.	.	.	.	.	G	17.12	3.307294	0.60305	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.63255	0.06;0.05;-0.03	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.72630	0.3484	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.973	T	0.74386	-0.3682	10	0.87932	D	0	-18.6485	19.1131	0.93326	0.0:0.0:1.0:0.0	.	1252;1252	Q2KHR2;C9JU50	RFX7_HUMAN;.	I	1252;1349;1349	ENSP00000387504:T1252I;ENSP00000313299:T1349I;ENSP00000397644:T1349I	ENSP00000313299:T1349I	T	-	2	0	RFX7	54173172	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.285000	0.78660	2.832000	0.97577	0.655000	0.94253	ACT	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	NA	protein_coding	OTTHUMT00000418841.3		-	ENST00000559447.2	Missense_Mutation	SNP	15 : 56385880 - 56385880 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	214	33
ERICH1	157697	broad.mit.edu	37	8	623821	623821	+	Silent	SNP	G	G	T	rs61743225	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:623821G>T	ENST00000262109.7	-	4	608	c.531C>A	c.(529-531)gcC>gcA	p.A177A	ERICH1_ENST00000522706.1_Silent_p.A83A	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	177										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		CTGCCAAGCCGGCTGCTTTCT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	73	72			NA	NA	8		NA											NA				623821		2203	4300	6503	SO:0001819	synonymous_variant				CCDS5955.1	8p23.3	2005-09-01			ENSG00000104714	ENSG00000104714	157697	157697			27234	protein-coding gene	gene with protein product					NA		Standard	NM_207332	NM_207332	NA	Approved		uc003wph.3	Q86X53	OTTHUMG00000129163	ENST00000262109.7:c.531C>A	8.37:g.623821G>T		NA	A8K2J9|Q9P063	37	CCDS5955.1																																																																																			ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251228.3		-	ENST00000262109.7	Silent	SNP	8 : 623821 - 623821 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	500	18
BTNL8	79908	broad.mit.edu	37	5	180338566	180338566	+	Missense_Mutation	SNP	C	C	T	rs143894862	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180338566C>T	ENST00000231229.4	+	3	859	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	BTNL8_ENST00000340184.4_Missense_Mutation_p.R209W|BTNL8_ENST00000505126.1_Missense_Mutation_p.R2W|BTNL8_ENST00000533815.2_Missense_Mutation_p.R25W|BTNL8_ENST00000508408.1_Missense_Mutation_p.R209W|BTNL8_ENST00000400707.3_Missense_Mutation_p.R84W|BTNL8_ENST00000511704.1_Missense_Mutation_p.R93W	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	209	Ig-like V-type 2.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGTTCCATGCGGCATGCTCA	0.552		NA											C	6	0.0027	0.01	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0027	1	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				0								C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	52,4354	52.3+/-87.9	0,52,2151	69	68	68		625,277,625,250,73,625	2.7	0	5	dbSNP_134	68	0,8592		0,0,4296	yes	missense,missense,missense,missense,missense,missense	BTNL8	NM_001040462.2,NM_001159707.1,NM_001159708.1,NM_001159709.1,NM_001159710.1,NM_024850.2	101,101,101,101,101,101	0,52,6447	TT,TC,CC	NA	0.0,1.1802,0.4001	benign,benign,benign,benign,benign,benign	209/501,93/385,209/341,84/376,25/317,209/348	180338566	52,12946	2203	4296	6499	SO:0001583	missense			AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303	79908	79908		Immunoglobulin superfamily / V-set domain containing, Butyrophilins	26131	protein-coding gene	gene with protein product		615606			NA	12975309	Standard	NM_024850	NM_024850	NA	Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000231229.4:c.625C>T	5.37:g.180338566C>T	ENSP00000231229:p.Arg209Trp	NA	Q9H730	37	CCDS4459.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	C	8.734	0.917376	0.17982	0.011802	0.0	ENSG00000113303	ENST00000231229;ENST00000340184;ENST00000400707;ENST00000508408;ENST00000511704;ENST00000505126;ENST00000533815	T;T;T;T;T;T;T	0.62639	3.27;3.27;3.27;3.27;3.27;0.01;0.18	3.59	2.69	0.31865	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.37100	0.0991	N	0.26042	0.785	0.09310	N	1	D;B;P;D;B	0.56968	0.978;0.24;0.947;0.97;0.002	B;B;B;B;B	0.40534	0.12;0.011;0.332;0.332;0.0	T	0.15867	-1.0422	9	0.45353	T	0.12	.	8.4213	0.32703	0.2343:0.7657:0.0:0.0	.	84;93;209;209;209	E9PG07;E9PEF6;F2Z2B2;A6NEX6;Q6UX41	.;.;.;.;BTNL8_HUMAN	W	209;209;84;209;93;2;25	ENSP00000231229:R209W;ENSP00000342197:R209W;ENSP00000383543:R84W;ENSP00000424585:R209W;ENSP00000425207:R93W;ENSP00000427441:R2W;ENSP00000435098:R25W	ENSP00000231229:R209W	R	+	1	2	BTNL8	180271172	0.005000	0.15991	0.024000	0.17045	0.033000	0.12548	1.008000	0.29872	0.611000	0.30052	0.205000	0.17691	CGG	BTNL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253528.2		+	ENST00000231229.4	Missense_Mutation	SNP	5 : 180338566 - 180338566 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	443	112
NINL	22981	broad.mit.edu	37	20	25450686	25450686	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25450686G>A	ENST00000278886.6	-	18	3367	c.3294C>T	c.(3292-3294)aaC>aaT	p.N1098N	NINL_ENST00000422516.1_Silent_p.N749N	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1098					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TTCCCAGATCGTTTTTCAACA	0.507		NA									OREG0025846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													182	179	180			NA	NA	20		NA											NA				25450686		2203	4300	6503	SO:0001819	synonymous_variant				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004	22981	22981		EF-hand domain containing	29163	protein-coding gene	gene with protein product	ninein-like protein	609580			NA	10231032	Standard	NM_025176	XM_005260678	NA	Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3294C>T	20.37:g.25450686G>A		779	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	37	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	G	0.087	-1.173344	0.01646	.	.	ENSG00000101004	ENST00000336104	.	.	.	4.66	-2.02	0.07388	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999991	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.3007	1.1511	0.01786	0.3569:0.2675:0.2455:0.1301	.	.	.	.	X	51	.	.	R	-	1	2	NINL	25398686	0.220000	0.23631	0.000000	0.03702	0.107000	0.19398	0.042000	0.13949	-0.628000	0.05582	-0.302000	0.09304	CGA	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078445.3		-	ENST00000278886.6	Silent	SNP	20 : 25450686 - 25450686 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1015	199
NOP2	4839	broad.mit.edu	37	12	6670153	6670153	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6670153G>A	ENST00000545200.1	-	12	1358	c.1279C>T	c.(1279-1281)Cgg>Tgg	p.R427W	NOP2_ENST00000541778.1_Missense_Mutation_p.R427W|NOP2_ENST00000382421.3_Missense_Mutation_p.R464W|NOP2_ENST00000322166.5_Missense_Mutation_p.R431W|NOP2_ENST00000537442.1_Missense_Mutation_p.R431W|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000399466.2_Missense_Mutation_p.R427W	NM_001258310.1	NP_001245239.1	P46087	NOP2_HUMAN	NOP2 nucleolar protein	431					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						ACTCCCAGCCGATGCAAGTTG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	71	69			NA	NA	12		NA											NA				6670153		2123	4231	6354	SO:0001583	missense				CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641	4839	4839		NOP2/Sun domain containing	7867	protein-coding gene	gene with protein product	NOP2/Sun domain family, member 1	164031	nucleolar protein 1 (120kD), nucleolar protein 1, 120kDa, nucleolar protein 2 homolog (yeast), NOP2 nucleolar protein homolog (yeast)	NOL1	NA	8088812	Standard	NM_006170	NM_006170	NA	Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000545200.1:c.1279C>T	12.37:g.6670153G>A	ENSP00000439422:p.Arg427Trp	NA	A1A4Z3|B3KPD6|Q0P5S5|Q58F30	37	CCDS58202.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335701	0.81801	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778	T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47	5.7	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.75110	0.3805	H	0.99777	4.77	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.71656	0.929;0.974	D	0.87916	0.2700	10	0.87932	D	0	-25.0293	16.0388	0.80650	0.0:0.0:0.8645:0.1355	.	427;427	Q05BA7;P46087-2	.;.	W	431;464;427;427;431;427	ENSP00000444437:R431W;ENSP00000371858:R464W;ENSP00000439422:R427W;ENSP00000382392:R427W;ENSP00000313272:R431W;ENSP00000443150:R427W	ENSP00000313272:R431W	R	-	1	2	NOP2	6540414	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.498000	0.66931	1.391000	0.46566	-0.181000	0.13052	CGG	NOP2-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402611.1		-	ENST00000545200.1	Missense_Mutation	SNP	12 : 6670153 - 6670153 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	190	42
TTPAL	79183	broad.mit.edu	37	20	43117903	43117903	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43117903G>A	ENST00000372906.2	+	3	565		c.e3-1		TTPAL_ENST00000372904.3_Splice_Site|TTPAL_ENST00000262605.4_Splice_Site			Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	NA						intracellular	transporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						TTCCCTTTTAGTTCTTCCTCC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	45	46			NA	NA	20		NA											NA				43117903		2203	4300	6503	SO:0001630	splice_region_variant			BC003071	CCDS13332.2	20q13.12	2008-06-23	2008-06-23	2008-06-23	ENSG00000124120	ENSG00000124120	79183	79183			16114	protein-coding gene	gene with protein product			chromosome 20 open reading frame 121	C20orf121	NA		Standard	NM_024331	NM_024331	NA	Approved	dJ179M20.3	uc002xmd.2	Q9BTX7	OTTHUMG00000032536	ENST00000372906.2:c.446-1G>A	20.37:g.43117903G>A		NA	E1P5X3|Q5QPC1|Q9H1G2|Q9NQG8	37		.	.	.	.	.	.	.	.	.	.	G	18.86	3.713898	0.68730	.	.	ENSG00000124120	ENST00000262605;ENST00000372904;ENST00000372906;ENST00000456317	.	.	.	6.04	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0869	0.72162	0.0673:0.0:0.9327:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTPAL	42551317	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	9.599000	0.98280	1.571000	0.49722	0.563000	0.77884	.	TTPAL-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000127807.2	Intron	+	ENST00000372906.2	Splice_Site	SNP	20 : 43117903 - 43117903 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	290	46
OR13G1	441933	broad.mit.edu	37	1	247836210	247836210	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247836210G>T	ENST00000359688.2	-	1	155	c.134C>A	c.(133-135)gCc>gAc	p.A45D	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATAGATTTTGGCAATGATGAT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	75	81			NA	NA	1		NA											NA				247836210		2203	4300	6503	SO:0001583	missense			AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437	441933	441933		GPCR / Class A : Olfactory receptors	14999	protein-coding gene	gene with protein product		611677			NA		Standard	NM_001005487	NM_001005487	NA	Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.134C>A	1.37:g.247836210G>T	ENSP00000352717:p.Ala45Asp	NA	B2RN80|Q5T2T2|Q6IF86	37	CCDS31094.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357934	0.41801	.	.	ENSG00000197437	ENST00000359688	T	0.10573	2.86	4.33	2.46	0.29980	GPCR, rhodopsin-like superfamily (1);	0.191895	0.25419	N	0.030802	T	0.16557	0.0398	M	0.64630	1.985	0.09310	N	1	P	0.40534	0.72	P	0.47705	0.555	T	0.05468	-1.0883	10	0.87932	D	0	-15.2952	6.4924	0.22123	0.3015:0.0:0.6985:0.0	.	45	Q8NGZ3	O13G1_HUMAN	D	45	ENSP00000352717:A45D	ENSP00000352717:A45D	A	-	2	0	OR13G1	245902833	0.000000	0.05858	0.022000	0.16811	0.005000	0.04900	0.215000	0.17562	0.577000	0.29470	-0.137000	0.14449	GCC	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096869.1		-	ENST00000359688.2	Missense_Mutation	SNP	1 : 247836210 - 247836210 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	55
RYR3	6263	broad.mit.edu	37	15	34137128	34137128	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34137128C>T	ENST00000389232.4	+	93	13432	c.13362C>T	c.(13360-13362)gaC>gaT	p.D4454D	RYR3_ENST00000415757.3_Silent_p.D4449D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4454					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTTTAATGACGAGGAAGAGG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	121	124			NA	NA	15		NA											NA				34137128		1933	4133	6066	SO:0001819	synonymous_variant				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838	6263	6263		Ion channels / Ryanodine receptors, EF-hand domain containing	10485	protein-coding gene	gene with protein product		180903			NA	8276408	Standard		NM_001036	NA	Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.13362C>T	15.37:g.34137128C>T		NA	O15175|Q15412	37	CCDS45210.1																																																																																			RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417514.1		+	ENST00000389232.4	Silent	SNP	15 : 34137128 - 34137128 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	225	47
GAL3ST1	9514	broad.mit.edu	37	22	30951198	30951198	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30951198G>A	ENST00000402321.1	-	3	1331	c.1014C>T	c.(1012-1014)aaC>aaT	p.N338N	GAL3ST1_ENST00000406361.1_Silent_p.N338N|GAL3ST1_ENST00000401975.1_Silent_p.N338N|GAL3ST1_ENST00000406955.1_Silent_p.N338N|GAL3ST1_ENST00000338911.5_Silent_p.N338N|GAL3ST1_ENST00000443111.2_Silent_p.N338N|GAL3ST1_ENST00000402369.1_Silent_p.N338N			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	338					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GCATGCGCTCGTTGGCATGGC	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	22	22			NA	NA	22		NA											NA				30951198		2200	4288	6488	SO:0001819	synonymous_variant			D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242	9514	9514		Sulfotransferases, membrane-bound	24240	protein-coding gene	gene with protein product	cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase	602300			NA	9847074, 9030544	Standard	NM_004861	NM_004861	NA	Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.1014C>T	22.37:g.30951198G>A		NA	Q96C63	37	CCDS13879.1																																																																																			GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321745.1		-	ENST00000402321.1	Silent	SNP	22 : 30951198 - 30951198 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	235	49
TRMT61B	55006	broad.mit.edu	37	2	29093040	29093040	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29093040G>T	ENST00000306108.5	-	1	127	c.104C>A	c.(103-105)gCt>gAt	p.A35D		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	35							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						CAGTGACCGAGCTCCCTCGAA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	54	53			NA	NA	2		NA											NA				29093040		2203	4300	6503	SO:0001583	missense			BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103	55006	55006			26070	protein-coding gene	gene with protein product					NA	11230166	Standard	NM_017910	NM_017910	NA	Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.104C>A	2.37:g.29093040G>T	ENSP00000302801:p.Ala35Asp	NA	Q9H0Q9|Q9NWS7	37	CCDS1768.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.433373	0.62844	.	.	ENSG00000171103	ENST00000306108	T	0.55234	0.53	5.44	1.62	0.23740	.	0.418594	0.21374	N	0.075591	T	0.46521	0.1397	L	0.29908	0.895	0.09310	N	1	D;P	0.53462	0.96;0.933	P;P	0.53649	0.731;0.542	T	0.34153	-0.9840	10	0.72032	D	0.01	-5.5275	5.127	0.14890	0.2511:0.1498:0.599:0.0	.	35;35	F8WDR2;Q9BVS5	.;TR61B_HUMAN	D	35	ENSP00000302801:A35D	ENSP00000302801:A35D	A	-	2	0	TRMT61B	28946544	0.005000	0.15991	0.000000	0.03702	0.009000	0.06853	1.109000	0.31135	0.090000	0.17273	0.561000	0.74099	GCT	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250224.1		-	ENST00000306108.5	Missense_Mutation	SNP	2 : 29093040 - 29093040 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	259	68
STOX1	219736	broad.mit.edu	37	10	70644973	70644973	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70644973A>C	ENST00000298596.6	+	3	1504	c.1421A>C	c.(1420-1422)aAa>aCa	p.K474T	STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.K474T|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.K364T	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	474						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GTAGGTCAGAAACCACTTGGT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	75	75			NA	NA	10		NA											NA				70644973		1881	4093	5974	SO:0001583	missense			AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730	219736	219736			23508	protein-coding gene	gene with protein product		609397	chromosome 10 open reading frame 24	C10orf24	NA		Standard	NM_152709	NM_152709	NA	Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.1421A>C	10.37:g.70644973A>C	ENSP00000298596:p.Lys474Thr	NA	A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	37	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	A	0.290	-0.980775	0.02197	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	T;T;T	0.74315	-0.83;-0.83;-0.51	5.98	0.588	0.17445	.	0.489617	0.20416	N	0.092763	T	0.67097	0.2857	M	0.65975	2.015	0.09310	N	1	B	0.21071	0.051	B	0.14023	0.01	T	0.55263	-0.8168	10	0.30854	T	0.27	.	9.4765	0.38875	0.3569:0.5702:0.0729:0.0	.	474	Q6ZVD7	STOX1_HUMAN	T	474;474;364	ENSP00000382121:K474T;ENSP00000298596:K474T;ENSP00000394509:K364T	ENSP00000298596:K474T	K	+	2	0	STOX1	70314979	0.001000	0.12720	0.131000	0.22000	0.015000	0.08874	1.282000	0.33226	0.132000	0.18615	0.482000	0.46254	AAA	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276849.3		+	ENST00000298596.6	Missense_Mutation	SNP	10 : 70644973 - 70644973 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	427	82
NKTR	4820	broad.mit.edu	37	3	42681067	42681067	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42681067C>T	ENST00000232978.8	+	13	4059	c.3871C>T	c.(3871-3873)Cca>Tca	p.P1291S	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1291					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AAACCGTAGACCAAGAAATCA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	78	78			NA	NA	3		NA											NA				42681067		2203	4300	6503	SO:0001583	missense				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857	4820	4820			7833	protein-coding gene	gene with protein product	NK-tumor recognition protein, natural-killer cells cyclophilin-related protein, NK-TR protein	161565	natural killer-tumor recognition sequence		NA	8314596, 8144875	Standard	NM_005385	XM_005265173	NA	Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.3871C>T	3.37:g.42681067C>T	ENSP00000232978:p.Pro1291Ser	NA		37	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165595	0.78339	.	.	ENSG00000114857	ENST00000232978	T	0.20069	2.1	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.53916	0.1826	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.60229	-0.7304	10	0.87932	D	0	-17.7678	19.4228	0.94729	0.0:1.0:0.0:0.0	.	991;1291	Q6M1B8;P30414	.;NKTR_HUMAN	S	1291	ENSP00000232978:P1291S	ENSP00000232978:P1291S	P	+	1	0	NKTR	42656071	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.414000	0.80117	2.663000	0.90544	0.655000	0.94253	CCA	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256642.2		+	ENST00000232978.8	Missense_Mutation	SNP	3 : 42681067 - 42681067 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	381	69
CTNND2	1501	broad.mit.edu	37	5	11384997	11384997	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:11384997G>A	ENST00000304623.8	-	7	1146	c.957C>T	c.(955-957)atC>atT	p.I319I	CTNND2_ENST00000359640.2_Silent_p.I319I|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000458100.2_Intron|CTNND2_ENST00000511377.1_Silent_p.I228I	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	319					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AGGACACGACGATGTTGATGG	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	73	72			NA	NA	5		NA											NA				11384997		2198	4299	6497	SO:0001819	synonymous_variant			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862	1501	1501		Armadillo repeat containing	2516	protein-coding gene	gene with protein product	neural plakophilin-related arm-repeat protein	604275	catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)		NA	9342840, 9223106	Standard	NM_001332	XM_005248251	NA	Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.957C>T	5.37:g.11384997G>A		NA	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	37	CCDS3881.1																																																																																			CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206999.1		-	ENST00000304623.8	Silent	SNP	5 : 11384997 - 11384997 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	134	29
NLRP2	55655	broad.mit.edu	37	19	55494232	55494232	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55494232C>T	ENST00000543010.1	+	6	1309	c.1166C>T	c.(1165-1167)gCg>gTg	p.A389V	NLRP2_ENST00000339757.7_Missense_Mutation_p.A367V|NLRP2_ENST00000538819.1_Missense_Mutation_p.A365V|NLRP2_ENST00000448584.2_Missense_Mutation_p.A389V|NLRP2_ENST00000427260.2_Missense_Mutation_p.A366V|NLRP2_ENST00000537859.1_Missense_Mutation_p.A367V|NLRP2_ENST00000391721.4_Missense_Mutation_p.A365V|NLRP2_ENST00000263437.6_Missense_Mutation_p.A386V	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	389	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGGAGCAACGCGGCCCTGTTC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	29	29			NA	NA	19		NA											NA				55494232		2203	4298	6501	SO:0001583	missense			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556	55655	55655		Nucleotide-binding domain and leucine rich repeat containing	22948	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2	609364	NACHT, leucine rich repeat and PYD containing 2	NALP2	NA	12563287, 11270363	Standard	NM_017852	NM_001174081	NA	Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1166C>T	19.37:g.55494232C>T	ENSP00000445135:p.Ala389Val	NA	Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	37	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.095492	0.36952	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.74209	-0.77;-0.71;-0.71;-0.77;-0.71;-0.82;-0.71;-0.77	1.64	-0.74	0.11115	NACHT nucleoside triphosphatase (1);	0.883995	0.09194	N	0.835623	T	0.76983	0.4064	L	0.58101	1.795	0.09310	N	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.998;0.999	P;D;D;P;P	0.64410	0.892;0.925;0.91;0.885;0.862	T	0.62704	-0.6798	10	0.56958	D	0.05	.	0.7271	0.00951	0.2404:0.3548:0.2375:0.1672	.	366;367;386;365;389	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	V	389;365;367;389;367;366;365;386	ENSP00000445135:A389V;ENSP00000375601:A365V;ENSP00000344074:A367V;ENSP00000409370:A389V;ENSP00000440601:A367V;ENSP00000402474:A366V;ENSP00000441133:A365V;ENSP00000263437:A386V	ENSP00000263437:A386V	A	+	2	0	NLRP2	60186044	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	0.538000	0.23160	-0.102000	0.12197	-0.265000	0.10407	GCG	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396152.1		+	ENST00000543010.1	Missense_Mutation	SNP	19 : 55494232 - 55494232 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	400	69
RANBP17	64901	broad.mit.edu	37	5	170632528	170632528	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:170632528C>T	ENST00000523189.1	+	20	2307	c.2143C>T	c.(2143-2145)Cgt>Tgt	p.R715C	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	715					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	p.R715S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCACTGACAGCGTATGTTGAT	0.428		NA	T	TRD@	ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		5	5q34	64901	RAN binding protein 17		L	1	Substitution - Missense(1)	skin(1)											161	138	146			NA	NA	5		NA											NA				170632528		2203	4300	6503	SO:0001630	splice_region_variant			AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764	64901	64901			14428	protein-coding gene	gene with protein product		606141			NA	11024021	Standard	NM_022897	NM_022897	NA	Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.2143-1C>T	5.37:g.170632528C>T		NA		37	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845396	0.71603	.	.	ENSG00000204764	ENST00000523189;ENST00000534916	T	0.68331	-0.32	5.96	5.96	0.96718	Armadillo-type fold (1);	0.000000	0.64402	D	0.000004	T	0.80059	0.4554	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70487	0.932;0.969;0.932	T	0.78986	-0.1987	9	.	.	.	-11.8389	15.1722	0.72884	0.1409:0.8591:0.0:0.0	.	715;40;715	Q546R4;Q96M10;Q9H2T7	.;.;RBP17_HUMAN	C	715;145	ENSP00000427975:R715C	.	R	+	1	0	RANBP17	170565133	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.946000	0.56644	2.832000	0.97577	0.655000	0.94253	CGT	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372036.1	Missense_Mutation	+	ENST00000523189.1	Splice_Site	SNP	5 : 170632528 - 170632528 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	297	52
FGFBP2	83888	broad.mit.edu	37	4	15964245	15964245	+	Missense_Mutation	SNP	C	C	T	rs138174664		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15964245C>T	ENST00000259989.6	-	1	614	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	170						extracellular space	growth factor binding			central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						CCCAGCTCTTCCATCGAGTCC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	LYS/GLU	0,4406		0,0,2203	159	149	153		508	-2.5	0	4	dbSNP_134	153	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FGFBP2	NM_031950.3	56	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign	170/224	15964245	1,13005	2203	4300	6503	SO:0001583	missense			AB021123	CCDS3419.1	4p15.32	2008-07-16			ENSG00000137441	ENSG00000137441	83888	83888			29451	protein-coding gene	gene with protein product	killer-specific secretory protein of 37 kDa	607713			NA	11342666, 12322897	Standard	NM_031950	NM_031950	NA	Approved	KSP37	uc003gon.3	Q9BYJ0	OTTHUMG00000128513	ENST00000259989.6:c.508G>A	4.37:g.15964245C>T	ENSP00000259989:p.Glu170Lys	NA		37	CCDS3419.1	.	.	.	.	.	.	.	.	.	.	C	6.345	0.431820	0.12045	0.0	1.16E-4	ENSG00000137441	ENST00000259989	T	0.14391	2.51	2.53	-2.46	0.06461	.	.	.	.	.	T	0.03095	0.0091	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42310	-0.9459	9	0.02654	T	1	.	7.0495	0.25065	0.0:0.1959:0.0:0.8041	.	170	Q9BYJ0	FGFP2_HUMAN	K	170	ENSP00000259989:E170K	ENSP00000259989:E170K	E	-	1	0	FGFBP2	15573343	0.778000	0.28640	0.001000	0.08648	0.002000	0.02628	0.891000	0.28309	-0.611000	0.05709	-0.302000	0.09304	GAA	FGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250324.1		-	ENST00000259989.6	Missense_Mutation	SNP	4 : 15964245 - 15964245 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1261	71
DOCK2	1794	broad.mit.edu	37	5	169230145	169230145	+	Missense_Mutation	SNP	C	C	A	rs112062072	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169230145C>A	ENST00000520908.1	+	12	1278	c.1114C>A	c.(1114-1116)Ctg>Atg	p.L372M	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000256935.8_Missense_Mutation_p.L880M			Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	880					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACACCAGGTCCTGGAGAGGAA	0.498		NA											C	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	1	EXOME	NA	NA	3e-04	SNP								NA				0								C	MET/LEU	1,4405	2.1+/-5.4	0,1,2202	148	125	133		2638	3.6	0.1	5	dbSNP_132	133	9,8591	7.1+/-27.0	0,9,4291	yes	missense	DOCK2	NM_004946.2	15	0,10,6493	AA,AC,CC	NA	0.1047,0.0227,0.0769	benign	880/1831	169230145	10,12996	2203	4300	6503	SO:0001583	missense			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516	1794	1794			2988	protein-coding gene	gene with protein product		603122	dedicator of cyto-kinesis 2		NA		Standard	NM_004946	NM_004946	NA	Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000520908.1:c.1114C>A	5.37:g.169230145C>A	ENSP00000429283:p.Leu372Met	NA	Q2M3I0|Q96AK7	37		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	11.81	1.749829	0.30955	2.27E-4	0.001047	ENSG00000134516	ENST00000256935;ENST00000343291;ENST00000520908;ENST00000519628	T;T;T	0.21361	2.01;2.01;2.01	5.36	3.56	0.40772	.	0.921684	0.09265	N	0.825915	T	0.11067	0.0270	N	0.08118	0	0.42644	D	0.99342	B;B	0.30709	0.291;0.042	B;B	0.24541	0.054;0.037	T	0.07731	-1.0757	10	0.54805	T	0.06	.	8.148	0.31124	0.282:0.6461:0.0:0.0719	.	372;880	E7ERW7;Q92608	.;DOCK2_HUMAN	M	880;261;372;84	ENSP00000256935:L880M;ENSP00000429283:L372M;ENSP00000428841:L84M	ENSP00000256935:L880M	L	+	1	2	DOCK2	169162723	0.088000	0.21588	0.133000	0.22050	0.957000	0.61999	0.944000	0.29043	0.733000	0.32492	0.655000	0.94253	CTG	DOCK2-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000371643.1		+	ENST00000520908.1	Missense_Mutation	SNP	5 : 169230145 - 169230145 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	346	68
KIAA1324L	222223	broad.mit.edu	37	7	86570678	86570678	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86570678C>A	ENST00000416314.1	-	4	436				KIAA1324L_ENST00000450689.2_Intron|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.G4V|KIAA1324L_ENST00000444627.1_Intron	NM_152748.3	NP_689961.3	A8MWY0	K132L_HUMAN	KIAA1324-like	NA						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					ctggtaattgccttcaagcat	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	96	99			NA	NA	7		NA											NA				86570678		2203	4299	6502	SO:0001627	intron_variant			AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659	222223	222223			21945	protein-coding gene	gene with protein product	EIG121-like	614048			NA		Standard	NM_152748	NM_001142749	NA	Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000416314.1:c.240+655G>T	7.37:g.86570678C>A		NA	A4D1C9|Q17RI6|Q96DP2	37	CCDS34677.2	.	.	.	.	.	.	.	.	.	.	C	18.07	3.542018	0.65198	.	.	ENSG00000164659	ENST00000297222	T	0.23348	1.91	3.56	0.899	0.19271	.	.	.	.	.	T	0.32912	0.0845	.	.	.	0.23473	N	0.997602	D	0.63046	0.992	P	0.55087	0.768	T	0.15636	-1.0430	8	0.87932	D	0	.	3.5992	0.08018	0.0:0.541:0.2361:0.2229	.	4	A8MWY0-2	.	V	4	ENSP00000297222:G4V	ENSP00000297222:G4V	G	-	2	0	KIAA1324L	86408614	0.000000	0.05858	0.010000	0.14722	0.836000	0.47400	-0.474000	0.06607	0.180000	0.19960	0.650000	0.86243	GGC	KIAA1324L-005	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333840.1		-	ENST00000416314.1	Intron	SNP	7 : 86570678 - 86570678 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	229	45
ELFN2	114794	broad.mit.edu	37	22	37769658	37769658	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37769658G>A	ENST00000402918.2	-	3	2702	c.1917C>T	c.(1915-1917)agC>agT	p.S639S	RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	NA						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					AGACCTTGGCGCTCTTGATGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	12	12			NA	NA	22		NA											NA				37769658		2176	4248	6424	SO:0001819	synonymous_variant			BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897	114794	114794		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Fibronectin type III domain containing	29396	protein-coding gene	gene with protein product			leucine rich repeat containing 62, extracellular leucine-rich repeat and fibronectin type III containing 2, extracellular leucine-rich repeat and fibronectin type III domain containing 2, protein phosphatase 1, regulatory subunit 29	LRRC62, PPP1R29	NA	17868438	Standard	NM_052906	XR_244427	NA	Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.1917C>T	22.37:g.37769658G>A		NA	Q96PY3	37	CCDS33642.1																																																																																			ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318900.2		-	ENST00000402918.2	Silent	SNP	22 : 37769658 - 37769658 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	152	30
CSDE1	7812	broad.mit.edu	37	1	115263337	115263337	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115263337G>A	ENST00000530886.1	-	15	2072	c.1485C>T	c.(1483-1485)ggC>ggT	p.G495G	CSDE1_ENST00000438362.2_Splice_Site_p.G671G|CSDE1_ENST00000261443.5_Splice_Site_p.G594G|CSDE1_ENST00000534699.1_Splice_Site_p.G625G|CSDE1_ENST00000358528.4_Splice_Site_p.G625G|CSDE1_ENST00000369530.1_Splice_Site_p.G640G|CSDE1_ENST00000339438.6_Splice_Site_p.G594G			O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	625	CSD 6.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTTCATATCGCCTGTAAAAC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	90	97			NA	NA	1		NA											NA				115263337		2203	4300	6503	SO:0001630	splice_region_variant				CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307	7812	7812			29905	protein-coding gene	gene with protein product	upstream of NRAS	191510			NA	2204029, 10048485	Standard	NM_007158	NM_007158	NA	Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000530886.1:c.1484-1C>T	1.37:g.115263337G>A		NA	A8K281|O94961|Q5TF04|Q5TF05|Q68DI9|Q9Y2S4	37																																																																																				CSDE1-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000392607.1	Silent	-	ENST00000530886.1	Splice_Site	SNP	1 : 115263337 - 115263337 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	52
KDELR3	11015	broad.mit.edu	37	22	38877488	38877488	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38877488G>T	ENST00000409006.3	+	4	779	c.623G>T	c.(622-624)aGc>aTc	p.S208I	KDELR3_ENST00000216014.4_Intron|KDELR3_ENST00000471268.1_Intron	NM_016657.1	NP_057839.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	0					protein retention in ER lumen|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	ER retention sequence binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					TGGGATGACAGCAATGCTGAC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(11;103 529 24120 28493 32980)							NA				0													118	108	111			NA	NA	22		NA											NA				38877488		2203	4300	6503	SO:0001583	missense			AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196	NA	11015			6306	protein-coding gene	gene with protein product					NA		Standard		NM_006855	NA	Approved		uc003avu.3	O43731	OTTHUMG00000153520	ENST00000409006.3:c.623G>T	22.37:g.38877488G>T	ENSP00000386918:p.Ser208Ile	NA	A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	37	CCDS46705.1	.	.	.	.	.	.	.	.	.	.	G	7.639	0.680392	0.14907	.	.	ENSG00000100196	ENST00000409006	T	0.46819	0.86	2.55	1.45	0.22620	.	.	.	.	.	T	0.27933	0.0688	.	.	.	0.09310	N	1	B	0.15473	0.013	B	0.16289	0.015	T	0.19516	-1.0303	7	.	.	.	.	6.145	0.20280	0.3912:0.0:0.6087:0.0	.	208	O43731-2	.	I	208	ENSP00000386918:S208I	.	S	+	2	0	KDELR3	37207434	0.368000	0.25031	0.006000	0.13384	0.031000	0.12232	1.862000	0.39448	0.578000	0.29487	0.585000	0.79938	AGC	KDELR3-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331475.1		+	ENST00000409006.3	Missense_Mutation	SNP	22 : 38877488 - 38877488 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	470	92
SAMM50	25813	broad.mit.edu	37	22	44364674	44364674	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44364674G>A	ENST00000350028.4	+	4	455	c.298G>A	c.(298-300)Gat>Aat	p.D100N	SAMM50_ENST00000396202.3_De_novo_Start_InFrame|SAMM50_ENST00000493161.1_3'UTR	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	100					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TAGACAAGTGGATGTTTTGAT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	119	117			NA	NA	22		NA											NA				44364674		2203	4300	6503	SO:0001583	missense			AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347	25813	25813			24276	protein-coding gene	gene with protein product		612058	sorting and assembly machinery component 50 homolog (S. cerevisiae)		NA	15644312	Standard	NM_015380	NM_015380	NA	Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.298G>A	22.37:g.44364674G>A	ENSP00000345445:p.Asp100Asn	NA	Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	37	CCDS14055.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103707	0.37145	.	.	ENSG00000100347	ENST00000350028	T	0.29397	1.57	4.92	4.92	0.64577	.	0.052819	0.85682	D	0.000000	T	0.15609	0.0376	N	0.08118	0	0.80722	D	1	B	0.11235	0.004	B	0.06405	0.002	T	0.08472	-1.0720	10	0.02654	T	1	-35.8104	17.478	0.87666	0.0:0.0:1.0:0.0	.	100	Q9Y512	SAM50_HUMAN	N	100	ENSP00000345445:D100N	ENSP00000345445:D100N	D	+	1	0	SAMM50	42696007	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	8.813000	0.91963	2.436000	0.82500	0.563000	0.77884	GAT	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318898.2		+	ENST00000350028.4	Missense_Mutation	SNP	22 : 44364674 - 44364674 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	588	104
CNP	1267	broad.mit.edu	37	17	40125661	40125661	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40125661G>A	ENST00000393892.3	+	4	1129	c.985G>A	c.(985-987)Gcc>Acc	p.A329T	CNP_ENST00000472031.1_3'UTR|CNP_ENST00000393888.1_Missense_Mutation_p.A309T|CNP_ENST00000591072.1_Missense_Mutation_p.A94T	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	NA					cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		GGGGAGCCGCGCCCACATCAC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	40	38			NA	NA	17		NA											NA				40125661		2017	4149	6166	SO:0001583	missense				CCDS11414.2	17q21	2008-02-05			ENSG00000173786	ENSG00000173786	1267	1267	3.1.4.37		2158	protein-coding gene	gene with protein product		123830			NA	1322358	Standard		XM_006721701	NA	Approved		uc002hyl.1	P09543	OTTHUMG00000133502	ENST00000393892.3:c.985G>A	17.37:g.40125661G>A	ENSP00000377470:p.Ala329Thr	NA		37	CCDS11414.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378658	0.82682	.	.	ENSG00000173786	ENST00000393892;ENST00000310262;ENST00000393888	T;T	0.58358	0.34;0.34	4.83	4.83	0.62350	RNA ligase/cyclic nucleotide phosphodiesterase (1);	0.184155	0.47093	D	0.000259	T	0.71500	0.3347	M	0.69823	2.125	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75105	-0.3435	10	0.87932	D	0	-13.2322	15.8956	0.79333	0.0:0.0:1.0:0.0	.	206;329	B4DI06;P09543	.;CN37_HUMAN	T	329;205;309	ENSP00000377470:A329T;ENSP00000377466:A309T	ENSP00000309643:A205T	A	+	1	0	CNP	37379187	1.000000	0.71417	0.275000	0.24674	0.525000	0.34531	8.737000	0.91562	2.509000	0.84616	0.561000	0.74099	GCC	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257443.2		+	ENST00000393892.3	Missense_Mutation	SNP	17 : 40125661 - 40125661 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	474	86
CERS2	29956	broad.mit.edu	37	1	150940918	150940918	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150940918C>T	ENST00000345896.4	-	0	295				CERS2_ENST00000271688.6_Missense_Mutation_p.A82T|CERS2_ENST00000561294.1_Missense_Mutation_p.A82T|CERS2_ENST00000368954.5_Missense_Mutation_p.A82T			Q96G23	CERS2_HUMAN	ceramide synthase 2	NA						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity				NA						TCCAAGGTGGCGTTGGGAGGT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	77	79			NA	NA	1		NA											NA				150940918		2203	4300	6503	SO:0001623	5_prime_UTR_variant			AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418	29956	29956		Homeoboxes / CERS class	14076	protein-coding gene	gene with protein product		606920	longevity assurance (LAG1, S. cerevisiae) homolog 2, LAG1 longevity assurance homolog 2 (S. cerevisiae), LAG1 homolog, ceramide synthase 2	LASS2	NA	11543633	Standard	NM_022075	NM_181746	NA	Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000345896.4:c.-1875G>A	1.37:g.150940918C>T		NA	D3DV06|Q5SZE5|Q9HD96|Q9NW79	37		.	.	.	.	.	.	.	.	.	.	C	15.14	2.745555	0.49151	.	.	ENSG00000143418	ENST00000368954;ENST00000271688;ENST00000368949;ENST00000361419;ENST00000421609;ENST00000457392	T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92	5.08	4.18	0.49190	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.053822	0.85682	D	0.000000	T	0.08626	0.0214	N	0.25890	0.77	0.43569	D	0.995897	B	0.13145	0.007	B	0.13407	0.009	T	0.07328	-1.0778	10	0.28530	T	0.3	-10.074	13.8461	0.63468	0.0:0.4626:0.5374:0.0	.	82	Q96G23	CERS2_HUMAN	T	82;82;102;82;82;82	ENSP00000357950:A82T;ENSP00000271688:A82T;ENSP00000357945:A102T;ENSP00000355020:A82T;ENSP00000393239:A82T;ENSP00000394012:A82T	ENSP00000271688:A82T	A	-	1	0	CERS2	149207542	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	3.063000	0.49978	1.385000	0.46445	0.655000	0.94253	GCC	CERS2-002	KNOWN	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000084898.2		-	ENST00000345896.4	5'UTR	SNP	1 : 150940918 - 150940918 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	228	59
ZNF787	126208	broad.mit.edu	37	19	56600160	56600160	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56600160G>A	ENST00000270459.3	-	3	499	c.381C>T	c.(379-381)tgC>tgT	p.C127C		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		AGCGCTTGCCGCACTCCAAGC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	25	24			NA	NA	19		NA											NA				56600160		2203	4300	6503	SO:0001819	synonymous_variant			BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409	126208	126208		Zinc fingers, C2H2-type	26998	protein-coding gene	gene with protein product					NA		Standard	NM_001002836	NM_001002836	NA	Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.381C>T	19.37:g.56600160G>A		NA	O00455	37	CCDS42634.1																																																																																			ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457498.1		-	ENST00000270459.3	Silent	SNP	19 : 56600160 - 56600160 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	159	31
EIF2AK3	9451	broad.mit.edu	37	2	88874373	88874373	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88874373C>A	ENST00000303236.3	-	13	2929	c.2628G>T	c.(2626-2628)caG>caT	p.Q876H	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.Q725H|EIF2AK3_ENST00000470706.1_5'UTR|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	876	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						GTGAACTGGGCTGGAGTTTTT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(138;671 1851 16235 39058 45249)							NA				0													176	173	174			NA	NA	2		NA											NA				88874373		2203	4300	6503	SO:0001583	missense			AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071	9451	9451			3255	protein-coding gene	gene with protein product		604032			NA	10026192, 10575235	Standard	NM_004836	NM_004836	NA	Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.2628G>T	2.37:g.88874373C>A	ENSP00000307235:p.Gln876His	NA	A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	37	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443500	0.43429	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.74842	-0.76;-0.7;-0.88	5.56	4.68	0.58851	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.446433	0.24662	N	0.036625	T	0.44871	0.1314	N	0.01576	-0.805	0.41466	D	0.988071	B	0.11235	0.004	B	0.09377	0.004	T	0.37663	-0.9696	10	0.13853	T	0.58	-10.8257	11.0365	0.47804	0.1293:0.8023:0.0:0.0684	.	876	Q9NZJ5	E2AK3_HUMAN	H	725;876;725;755	ENSP00000408325:Q725H;ENSP00000307235:Q876H;ENSP00000412076:Q755H	ENSP00000307235:Q876H	Q	-	3	2	EIF2AK3	88655488	0.967000	0.33354	1.000000	0.80357	0.994000	0.84299	0.032000	0.13732	1.344000	0.45657	0.655000	0.94253	CAG	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000338233.2		-	ENST00000303236.3	Missense_Mutation	SNP	2 : 88874373 - 88874373 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	894	24
CCDC78	124093	broad.mit.edu	37	16	775563	775563	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:775563G>A	ENST00000293889.6	-	4	390	c.285C>T	c.(283-285)agC>agT	p.S95S		NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	95										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				CCAGTACCCGGCTCTCCAGCC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	38	38			NA	NA	16		NA											NA				775563		2190	4296	6486	SO:0001819	synonymous_variant			BC042110	CCDS32353.1	16p13.3	2014-07-15		2006-02-20	ENSG00000162004	ENSG00000162004	124093	124093			14153	protein-coding gene	gene with protein product		614666		C16orf25	NA	24075808	Standard	NM_173476	NM_001031737	NA	Approved	FLJ34512	uc002cjg.3	A2IDD5	OTTHUMG00000121176	ENST00000293889.6:c.285C>T	16.37:g.775563G>A		NA	B4DNY4|B4E1U6|Q05BY7|Q05CA0|Q6T2V5|Q6ZR33|Q8IUR3|Q8NAY7|Q96S12	37	CCDS32353.1																																																																																			CCDC78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000241665.3		-	ENST00000293889.6	Silent	SNP	16 : 775563 - 775563 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	49
CLEC4E	26253	broad.mit.edu	37	12	8691851	8691851	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8691851T>G	ENST00000446457.2	-	3	261	c.182A>C	c.(181-183)gAg>gCg	p.E61A	CLEC4E_ENST00000545274.1_Missense_Mutation_p.E61A|CLEC4E_ENST00000299663.3_Missense_Mutation_p.E61A			Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	61						integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					TGTGAAATTCTCAGGTAGCTG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	138	137			NA	NA	12		NA											NA				8691851		2203	4300	6503	SO:0001583	missense			AB024718	CCDS8594.1	12p13.31	2005-02-09		2005-02-09	ENSG00000166523	ENSG00000166523	26253	26253		C-type lectin domain containing	14555	protein-coding gene	gene with protein product		609962	C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 9	CLECSF9	NA	10528209	Standard	NM_014358	NM_014358	NA	Approved	mincle	uc001quo.1	Q9ULY5	OTTHUMG00000168675	ENST00000446457.2:c.182A>C	12.37:g.8691851T>G	ENSP00000387737:p.Glu61Ala	NA	B2R6Q6	37		.	.	.	.	.	.	.	.	.	.	T	12.45	1.942145	0.34283	.	.	ENSG00000166523	ENST00000299663;ENST00000446457;ENST00000545274	T;T	0.38560	2.34;1.13	3.92	0.128	0.14733	C-type lectin-like (1);	0.754446	0.11791	N	0.529157	T	0.32645	0.0836	L	0.55481	1.735	0.09310	N	1	B	0.25667	0.131	B	0.22386	0.039	T	0.22208	-1.0223	10	0.29301	T	0.29	.	6.2796	0.20999	0.0:0.3235:0.0:0.6765	.	61	Q9ULY5	CLC4E_HUMAN	A	61	ENSP00000299663:E61A;ENSP00000443034:E61A	ENSP00000299663:E61A	E	-	2	0	CLEC4E	8583118	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.342000	0.19926	0.022000	0.15160	-0.250000	0.11733	GAG	CLEC4E-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000400567.1		-	ENST00000446457.2	Missense_Mutation	SNP	12 : 8691851 - 8691851 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	645	128
FBXO34	55030	broad.mit.edu	37	14	55817495	55817495	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55817495T>C	ENST00000313833.4	+	2	632	c.387T>C	c.(385-387)agT>agC	p.S129S	FBXO34_ENST00000555087.1_3'UTR|FBXO34_ENST00000440021.1_Silent_p.S129S	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	129										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						ACCAGTGTAGTAACAGGATAG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	50	49			NA	NA	14		NA											NA				55817495		2202	4300	6502	SO:0001819	synonymous_variant			AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974	55030	55030		F-boxes /  other	20201	protein-coding gene	gene with protein product		609104	F-box only protein 34		NA		Standard		NM_017943	NA	Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.387T>C	14.37:g.55817495T>C		NA	Q2VPB5|Q86TY4	37	CCDS32086.1																																																																																			FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411322.1		+	ENST00000313833.4	Silent	SNP	14 : 55817495 - 55817495 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	259	58
CDSN	1041	broad.mit.edu	37	6	31083901	31083901	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31083901G>A	ENST00000376288.2	-	2	1517	c.1491C>T	c.(1489-1491)cgC>cgT	p.R497R	PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	NM_001264.4	NP_001255	Q15517	CDSN_HUMAN	corneodesmosin	497					cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						CCCGGATGGAGCGGCAGGGGA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	44	43			NA	NA	6		NA											NA				31083901		1809	3591	5400	SO:0001819	synonymous_variant			AF030130	CCDS34389.1	6p21.3	2008-07-29			ENSG00000204539	ENSG00000204539	1041	1041			1802	protein-coding gene	gene with protein product		602593			NA	9395522, 8415725	Standard		NM_001264	NA	Approved	D6S586E	uc003nsm.2	Q15517	OTTHUMG00000031150	ENST00000376288.2:c.1491C>T	6.37:g.31083901G>A		NA	B0S7V2|B0UYZ7|O43509|Q5SQ85|Q5STD2|Q7LA70|Q7LA71|Q86Z04|Q8IZU4|Q8IZU5|Q8IZU6|Q8N5P3|Q95IF9|Q9NP52|Q9NPE0|Q9NPG5|Q9NRH4|Q9NRH5|Q9NRH6|Q9NRH7|Q9NRH8|Q9UBH8|Q9UIN6|Q9UIN7|Q9UIN8|Q9UIN9|Q9UIP0	37	CCDS34389.1																																																																																			CDSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076275.2		-	ENST00000376288.2	Silent	SNP	6 : 31083901 - 31083901 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	381	75
BAAT	570	broad.mit.edu	37	9	104124866	104124866	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104124866G>T	ENST00000395051.3	-	3	1171	c.1101C>A	c.(1099-1101)ccC>ccA	p.P367P	BAAT_ENST00000259407.2_Silent_p.P367P			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	367					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	GAGGAGAATAGGGAGGTTCTA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													213	182	193			NA	NA	9		NA											NA				104124866		2203	4300	6503	SO:0001819	synonymous_variant			L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	570	570	2.3.1.65		932	protein-coding gene	gene with protein product	glycine N-choloyltransferase	602938	bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase), bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)		NA		Standard		NM_001701	NA	Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.1101C>A	9.37:g.104124866G>T		NA	Q3B7W9|Q96L31	37	CCDS6752.1																																																																																			BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053433.1		-	ENST00000395051.3	Silent	SNP	9 : 104124866 - 104124866 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	61
NPRL3	8131	broad.mit.edu	37	16	169169	169169	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:169169G>A	ENST00000405960.3	-	0	559				NPRL3_ENST00000399951.3_Intron|NPRL3_ENST00000399953.3_Nonsense_Mutation_p.R92*			Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	NA							protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						CCAACAAATCGCACATTATCA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	89	88			NA	NA	16		NA											NA				169169		1955	4146	6101	SO:0001623	5_prime_UTR_variant				CCDS73794.1, CCDS73795.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000103148	ENSG00000103148	8131	8131			14124	protein-coding gene	gene with protein product	conserved gene telomeric to alpha globin cluster	600928	chromosome 16 open reading frame 35	C16orf35	NA	8575760	Standard	NM_001039476	NM_001243247	NA	Approved	CGTHBA, RMD11, NPR3, MARE, HS-40	uc002cfr.3	Q12980	OTTHUMG00000047792	ENST00000405960.3:c.-2321C>T	16.37:g.169169G>A		NA	D3DU40|Q1W6H0|Q4TT56|Q92469	37		.	.	.	.	.	.	.	.	.	.	G	41	8.723317	0.98929	.	.	ENSG00000103148	ENST00000399953;ENST00000262313;ENST00000419636	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-31.1374	18.0399	0.89316	0.0:0.0:1.0:0.0	.	.	.	.	X	92;92;105	.	ENSP00000262313:R92X	R	-	1	2	NPRL3	109169	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.451000	0.97610	2.569000	0.86673	0.655000	0.94253	CGA	NPRL3-015	KNOWN	basic	processed_transcript	NA	protein_coding	OTTHUMT00000467385.1		-	ENST00000405960.3	5'UTR	SNP	16 : 169169 - 169169 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	70	21
DNAH17	8632	broad.mit.edu	37	17	76435168	76435168	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76435168G>A	ENST00000585328.1	-	73	11915				DNAH17_ENST00000586052.1_Intron|DNAH17_ENST00000389840.5_Nonsense_Mutation_p.R3923*	NM_173628.3	NP_775899.3			dynein, axonemal, heavy chain 17	NA										NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGGCCCCCTCGTACCTGCAGA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	54	59			NA	NA	17		NA											NA				76435168		2203	4300	6503	SO:0001627	intron_variant			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775	8632	8632		Axonemal dyneins	2946	protein-coding gene	gene with protein product		610063	dynein, axonemal, heavy polypeptide 17, dynein, axonemal, heavy chain like 1, dynein, axonemal, heavy like 1	DNAHL1	NA	9545504	Standard	NM_173628	NM_173628	NA	Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.11790+3C>T	17.37:g.76435168G>A		NA		37		.	.	.	.	.	.	.	.	.	.	G	52	19.831898	0.99924	.	.	ENSG00000187775	ENST00000389840	.	.	.	3.69	0.391	0.16282	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	0.6418	0.00812	0.3494:0.1666:0.314:0.1701	.	.	.	.	X	3923	.	ENSP00000374490:R3923X	R	-	1	2	DNAH17	73946763	0.979000	0.34478	0.000000	0.03702	0.290000	0.27261	-0.021000	0.12504	-0.049000	0.13379	0.655000	0.94253	CGA	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000318962.2		-	ENST00000585328.1	Intron	SNP	17 : 76435168 - 76435168 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	117	25
SPAG9	9043	broad.mit.edu	37	17	49064500	49064500	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:49064500G>A	ENST00000262013.7	-	22	3120	c.2912C>T	c.(2911-2913)aCt>aTt	p.T971I	SPAG9_ENST00000505279.1_Missense_Mutation_p.T961I|SPAG9_ENST00000357122.4_Missense_Mutation_p.T957I|SPAG9_ENST00000510283.1_Missense_Mutation_p.T814I	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	971					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			AAGCCACATAGTTGGTAAAAG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	134	140			NA	NA	17		NA											NA				49064500		2203	4300	6503	SO:0001583	missense			AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294	9043	9043			14524	protein-coding gene	gene with protein product	sperm surface protein, JNK/SAPK-associated protein, JNK interacting protein, sperm specific protein, c-Jun NH2-terminal kinase-associated leucine zipper protein, Max-binding protein, JNK-associated leucine-zipper protein, HLC-4 protein, lung cancer oncogene 4, proliferation-inducing gene 6, cancer/testis antigen 89	605430			NA	9480848, 11106729	Standard	NM_003971	NM_003971	NA	Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.2912C>T	17.37:g.49064500G>A	ENSP00000262013:p.Thr971Ile	NA	A8MSX0|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	37	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	G	32	5.171147	0.94807	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000357791;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445	T;T;T;T	0.44083	0.93;0.93;0.93;0.95	5.8	5.8	0.92144	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67711	0.2922	M	0.73598	2.24	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.69316	-0.5177	10	0.87932	D	0	-15.7473	20.051	0.97627	0.0:0.0:1.0:0.0	.	961;971;957;814	O60271-2;O60271;O60271-4;E7ENU2	.;JIP4_HUMAN;.;.	I	971;728;718;508;814;961;957;569	ENSP00000262013:T971I;ENSP00000423165:T814I;ENSP00000426900:T961I;ENSP00000349636:T957I	ENSP00000262013:T971I	T	-	2	0	SPAG9	46419499	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.773000	0.98989	2.740000	0.93945	0.650000	0.86243	ACT	SPAG9-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368543.2		-	ENST00000262013.7	Missense_Mutation	SNP	17 : 49064500 - 49064500 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	488	94
DUS4L	11062	broad.mit.edu	37	7	107214206	107214206	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107214206C>T	ENST00000265720.3	+	5	658	c.296C>T	c.(295-297)gCt>gTt	p.A99V	DUS4L_ENST00000402620.1_Intron	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like (S. cerevisiae)	99					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						TTATCTGATGCTGCTCGTATA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													269	246	253			NA	NA	7		NA											NA				107214206		2203	4300	6503	SO:0001583	missense			U62767	CCDS5745.1	7q22-q31	2007-12-04			ENSG00000105865	ENSG00000105865	11062	11062			21517	protein-coding gene	gene with protein product	protein similar to E.coli yhdg and R. capsulatus nifR3				NA		Standard	NM_181581	NM_181581	NA	Approved	PP35, DUS4	uc031syv.1	O95620	OTTHUMG00000154763	ENST00000265720.3:c.296C>T	7.37:g.107214206C>T	ENSP00000265720:p.Ala99Val	NA	B4DLX0|Q2NKK1	37	CCDS5745.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142670	0.94560	.	.	ENSG00000105865	ENST00000265720	T	0.38722	1.12	5.98	5.08	0.68730	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	T	0.67050	0.2852	M	0.83384	2.64	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.71560	-0.4556	10	0.49607	T	0.09	.	16.3562	0.83236	0.133:0.867:0.0:0.0	.	99	O95620	DUS4L_HUMAN	V	99	ENSP00000265720:A99V	ENSP00000265720:A99V	A	+	2	0	DUS4L	107001442	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.487000	0.81328	1.473000	0.48159	0.563000	0.77884	GCT	DUS4L-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336967.2		+	ENST00000265720.3	Missense_Mutation	SNP	7 : 107214206 - 107214206 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1132	193
DNAH10	196385	broad.mit.edu	37	12	124289558	124289558	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124289558T>G	ENST00000409039.3	+	17	2629	c.2604T>G	c.(2602-2604)atT>atG	p.I868M		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	868	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAAAGAAAATTTATGAGGTCC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	70	69			NA	NA	12		NA											NA				124289558		2203	4300	6503	SO:0001583	missense			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653	196385	196385		Axonemal dyneins	2941	protein-coding gene	gene with protein product		605884	dynein, axonemal, heavy polypeptide 10		NA		Standard		NM_207437	NA	Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.2604T>G	12.37:g.124289558T>G	ENSP00000386770:p.Ile868Met	NA	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	T	13.67	2.306600	0.40795	.	.	ENSG00000197653	ENST00000409039	T	0.24350	1.86	5.42	-3.79	0.04320	.	0.494884	0.17038	N	0.189451	T	0.33760	0.0874	L	0.57536	1.79	0.28725	N	0.902835	P;P;D	0.59357	0.886;0.819;0.985	P;P;P	0.59595	0.628;0.611;0.86	T	0.31223	-0.9951	10	0.15066	T	0.55	.	12.6907	0.56972	0.0:0.6709:0.1208:0.2083	.	868;743;868	Q8IVF4-2;C4IXU6;Q8IVF4	.;.;DYH10_HUMAN	M	868	ENSP00000386770:I868M	ENSP00000386770:I868M	I	+	3	3	DNAH10	122855511	0.318000	0.24598	0.002000	0.10522	0.182000	0.23217	-0.382000	0.07408	-1.010000	0.03396	-0.491000	0.04670	ATT	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335420.3		+	ENST00000409039.3	Missense_Mutation	SNP	12 : 124289558 - 124289558 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	362	69
OR11G2	390439	broad.mit.edu	37	14	20666258	20666258	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20666258C>T	ENST00000357366.3	+	1	764	c.764C>T	c.(763-765)tCc>tTc	p.S255F		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ATTGTGGGGTCCTATGCTCTG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													200	198	198			NA	NA	14		NA											NA				20666258		2203	4300	6503	SO:0001583	missense				CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832	390439	390439		GPCR / Class A : Olfactory receptors	15346	protein-coding gene	gene with protein product					NA		Standard		NM_001005503	NA	Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.764C>T	14.37:g.20666258C>T	ENSP00000349930:p.Ser255Phe	NA	Q6IF09|Q96R33	37	CCDS32032.1	.	.	.	.	.	.	.	.	.	.	c	17.65	3.442884	0.63067	.	.	ENSG00000196832	ENST00000357366	T	0.42513	0.97	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.145321	0.31747	N	0.007129	T	0.63271	0.2497	H	0.94808	3.585	0.28100	N	0.931451	P	0.40909	0.732	P	0.47470	0.548	T	0.67945	-0.5539	10	0.87932	D	0	.	12.1995	0.54317	0.1708:0.8292:0.0:0.0	.	255	Q8NGC1	O11G2_HUMAN	F	255	ENSP00000349930:S255F	ENSP00000349930:S255F	S	+	2	0	OR11G2	19736098	1.000000	0.71417	0.925000	0.36789	0.786000	0.44442	7.118000	0.77137	2.565000	0.86533	0.650000	0.86243	TCC	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395722.1		+	ENST00000357366.3	Missense_Mutation	SNP	14 : 20666258 - 20666258 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1219	201
BPIFB6	128859	broad.mit.edu	37	20	31627288	31627288	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31627288C>T	ENST00000349552.1	+	10	1036	c.1036C>T	c.(1036-1038)Cgg>Tgg	p.R346W		NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6	346						extracellular region	lipid binding				NA						AGCTCGGTGGCGGAGCAAGGC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	114	111			NA	NA	20		NA											NA				31627288		2203	4300	6503	SO:0001583	missense			AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104	128859	128859		BPI fold containing	16504	protein-coding gene	gene with protein product		614110	bactericidal/permeability-increasing protein-like 3	BPIL3	NA	12185532, 21787333	Standard	NM_174897	NM_174897	NA	Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.1036C>T	20.37:g.31627288C>T	ENSP00000344929:p.Arg346Trp	NA		37	CCDS13211.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.017659	0.35606	.	.	ENSG00000167104	ENST00000349552	T	0.07444	3.19	4.21	0.996	0.19844	.	1.381150	0.04935	N	0.457659	T	0.26231	0.0640	M	0.63428	1.95	0.09310	N	1	D	0.76494	0.999	D	0.65987	0.94	T	0.30149	-0.9988	10	0.72032	D	0.01	.	11.4879	0.50365	0.4903:0.5097:0.0:0.0	.	346	Q8NFQ5	BPIB6_HUMAN	W	346	ENSP00000344929:R346W	ENSP00000344929:R346W	R	+	1	2	BPIFB6	31090949	0.018000	0.18449	0.000000	0.03702	0.000000	0.00434	1.131000	0.31406	-0.207000	0.10187	-1.473000	0.01005	CGG	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078658.2		+	ENST00000349552.1	Missense_Mutation	SNP	20 : 31627288 - 31627288 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	811	133
FAM63B	54629	broad.mit.edu	37	15	59064120	59064120	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59064120C>A	ENST00000559228.1	+	1	608	c.526C>A	c.(526-528)Ctg>Atg	p.L176M	FAM63B_ENST00000450403.2_Missense_Mutation_p.L176M			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	176										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CCTGGACTCTCTGGAGTCGTT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	25	24			NA	NA	15		NA											NA				59064120		1868	4095	5963	SO:0001583	missense			AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09					54629	54629			26954	protein-coding gene	gene with protein product					NA	10574461	Standard	NM_019092	NM_001040450	NA	Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.526C>A	15.37:g.59064120C>A	ENSP00000452885:p.Leu176Met	NA	B2RTT8|Q9ULQ6	37	CCDS42046.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513697	0.85389	.	.	ENSG00000128923	ENST00000316848;ENST00000450403	T	0.60040	0.22	3.79	3.79	0.43588	.	0.000000	0.64402	D	0.000002	T	0.62048	0.2396	N	0.24115	0.695	0.48901	D	0.999725	D;D	0.76494	0.999;0.999	D;D	0.72075	0.946;0.976	T	0.62803	-0.6777	10	0.34782	T	0.22	-22.5119	15.8313	0.78752	0.0:1.0:0.0:0.0	.	176;176	Q8NBR6;Q8NBR6-2	FA63B_HUMAN;.	M	176	ENSP00000393231:L176M	ENSP00000326194:L176M	L	+	1	2	FAM63B	56851412	0.969000	0.33509	1.000000	0.80357	0.986000	0.74619	2.083000	0.41615	1.938000	0.56188	0.543000	0.68304	CTG	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416230.1		+	ENST00000559228.1	Missense_Mutation	SNP	15 : 59064120 - 59064120 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	39
FANCM	57697	broad.mit.edu	37	14	45636216	45636216	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45636216G>C	ENST00000542564.2	+	10	1852	c.1774G>C	c.(1774-1776)Gtc>Ctc	p.V592L	FANCM_ENST00000267430.5_Missense_Mutation_p.V618L|FANCM_ENST00000556036.1_Missense_Mutation_p.V618L			Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	618	Helicase C-terminal.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TAACAGGCAGGTCCTTCATTT	0.328		NA						Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	120	116			NA	NA	14		NA											NA				45636216		2203	4299	6502	SO:0001583	missense	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790	57697	57697		Fanconi anemia, complementation groups	23168	protein-coding gene	gene with protein product		609644	KIAA1596	KIAA1596	NA	10997877, 16116422	Standard	XM_048128	NM_020937	NA	Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000542564.2:c.1774G>C	14.37:g.45636216G>C	ENSP00000442493:p.Val592Leu	NA	Q3YFH9|Q8N9X6|Q9HCH6	37		.	.	.	.	.	.	.	.	.	.	G	4.353	0.064910	0.08388	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564;ENST00000556250	T;T;T;T	0.16897	2.78;2.85;2.86;2.31	5.65	2.81	0.32909	Helicase, C-terminal (1);	0.930262	0.09313	N	0.819360	T	0.11452	0.0279	L	0.27053	0.805	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.001;0.002;0.002	T	0.36744	-0.9735	10	0.10902	T	0.67	.	9.4997	0.39011	0.3437:0.0:0.6563:0.0	.	592;618;618	B2RTQ9;Q8IYD8;Q8IYD8-2	.;FANCM_HUMAN;.	L	618;618;592;134	ENSP00000450596:V618L;ENSP00000267430:V618L;ENSP00000442493:V592L;ENSP00000452033:V134L	ENSP00000267430:V618L	V	+	1	0	FANCM	44705966	0.091000	0.21658	0.908000	0.35775	0.971000	0.66376	1.682000	0.37628	0.859000	0.35456	-0.244000	0.11960	GTC	FANCM-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000410475.1		+	ENST00000542564.2	Missense_Mutation	SNP	14 : 45636216 - 45636216 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	857	137
FEM1A	55527	broad.mit.edu	37	19	4793050	4793050	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4793050A>G	ENST00000269856.3	+	1	1323	c.1184A>G	c.(1183-1185)tAc>tGc	p.Y395C	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	395					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TACATCCGTTACAGGGGTGCC	0.617		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	19		NA											NA				4793050		2203	4300	6503	SO:0001583	missense			BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965	55527	55527		Ankyrin repeat domain containing	16934	protein-coding gene	gene with protein product		613538			NA	11441184	Standard		NM_018708	NA	Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.1184A>G	19.37:g.4793050A>G	ENSP00000269856:p.Tyr395Cys	NA	B2RDI3|Q711P8|Q9NPN7|Q9NPW8	37	CCDS12135.1	.	.	.	.	.	.	.	.	.	.	A	16.58	3.163560	0.57476	.	.	ENSG00000141965	ENST00000269856	T	0.63580	-0.05	4.88	4.88	0.63580	Tetratricopeptide-like helical (1);	0.000000	0.64402	U	0.000002	T	0.81740	0.4886	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.84247	0.0475	10	0.42905	T	0.14	-24.2112	14.4967	0.67694	1.0:0.0:0.0:0.0	.	395	Q9BSK4	FEM1A_HUMAN	C	395	ENSP00000269856:Y395C	ENSP00000269856:Y395C	Y	+	2	0	FEM1A	4744050	1.000000	0.71417	0.965000	0.40720	0.538000	0.34931	9.119000	0.94362	1.824000	0.53156	0.402000	0.26972	TAC	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459000.1		+	ENST00000269856.3	Missense_Mutation	SNP	19 : 4793050 - 4793050 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	541	106
APEH	327	broad.mit.edu	37	3	49714060	49714060	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49714060G>A	ENST00000296456.5	+	8	1163	c.763G>A	c.(763-765)Gat>Aat	p.D255N	APEH_ENST00000438011.1_Missense_Mutation_p.D255N	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	255					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGCCCCTGGAGATGCTGGTGT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	118	123			NA	NA	3		NA											NA				49714060		2203	4300	6503	SO:0001583	missense			D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	327	327	3.4.19.1		586	protein-coding gene	gene with protein product	acylaminoacyl-peptidase	102645	N-acylaminoacyl-peptide hydrolase	D3F15S2, DNF15S2, D3S48E	NA	2392324	Standard		NM_001640	NA	Approved		uc003cxf.3	P13798	OTTHUMG00000156882	ENST00000296456.5:c.763G>A	3.37:g.49714060G>A	ENSP00000296456:p.Asp255Asn	NA	Q9BQ33|Q9P0Y2	37	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716078	0.89205	.	.	ENSG00000164062	ENST00000296456;ENST00000449966;ENST00000442186;ENST00000438011;ENST00000457042	T;T;T;T;T	0.42513	1.0;1.0;0.97;1.0;1.0	5.53	5.53	0.82687	Six-bladed beta-propeller, TolB-like (1);Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (1);	0.041945	0.85682	D	0.000000	T	0.57403	0.2051	L	0.58969	1.84	0.80722	D	1	D;P	0.59357	0.985;0.896	P;B	0.56088	0.791;0.334	T	0.56523	-0.7965	10	0.51188	T	0.08	-18.567	19.4536	0.94878	0.0:0.0:1.0:0.0	.	255;255	C9JIF9;P13798	.;ACPH_HUMAN	N	255;154;180;255;206	ENSP00000296456:D255N;ENSP00000414369:D154N;ENSP00000402365:D180N;ENSP00000415862:D255N;ENSP00000410366:D206N	ENSP00000296456:D255N	D	+	1	0	APEH	49689064	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.420000	0.97426	2.618000	0.88619	0.585000	0.79938	GAT	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346415.2		+	ENST00000296456.5	Missense_Mutation	SNP	3 : 49714060 - 49714060 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	268	55
PTX4	390667	broad.mit.edu	37	16	1537808	1537808	+	Missense_Mutation	SNP	G	G	A	rs61733465	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1537808G>A	ENST00000447419.2	-	2	330	c.305C>T	c.(304-306)gCg>gTg	p.A102V	PTX4_ENST00000440447.2_Missense_Mutation_p.A102V|PTX4_ENST00000293922.1_Missense_Mutation_p.A97V			Q96A99	PTX4_HUMAN	pentraxin 4, long	102						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CTTGAGCTGCGCCAGCTCCCC	0.677		NA											G	11	0.01	0.02	0.0028	2184	NA	0.9983	,	,	NA	4e-04	NA	NA	NA	0.0059	0.875	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0								G	VAL/ALA	73,4325		1,71,2127	55	58	57		290	1.1	0.1	16	dbSNP_129	57	0,8594		0,0,4297	yes	missense	PTX4	NM_001013658.1	64	1,71,6424	AA,AG,GG	NA	0.0,1.6598,0.5619	benign	97/474	1537808	73,12919	2199	4297	6496	SO:0001583	missense				CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692	390667	390667			14171	protein-coding gene	gene with protein product		613442	chromosome 16 open reading frame 38	C16orf38	NA		Standard	NM_001013658	NM_001013658	NA	Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.305C>T	16.37:g.1537808G>A	ENSP00000445277:p.Ala102Val	NA		37		11	0.005036630036630037	10	0.02032520325203252	1	0.0027624309392265192	0	0.0	0	0.0	G	5.119	0.207595	0.09704	0.016598	0.0	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.05649	3.55;3.41	5.77	1.14	0.20703	.	1.841690	0.02491	N	0.089444	T	0.01870	0.0059	N	0.12182	0.205	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.37979	-0.9682	10	0.35671	T	0.21	.	2.402	0.04404	0.1102:0.1576:0.4385:0.2937	.	97	Q96A99-2	.	V	102;97	ENSP00000445277:A102V;ENSP00000293922:A97V	ENSP00000293922:A97V	A	-	2	0	PTX4	1477809	0.068000	0.21057	0.075000	0.20258	0.001000	0.01503	0.402000	0.20965	0.103000	0.17682	-1.151000	0.01829	GCG	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000432526.1		-	ENST00000447419.2	Missense_Mutation	SNP	16 : 1537808 - 1537808 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	682	136
ERVW-1	30816	broad.mit.edu	37	7	92098212	92098212	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92098212G>T	ENST00000493463.2	-	1	2407	c.1484C>A	c.(1483-1485)aCt>aAt	p.T495N	AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000604270.1_5'UTR|ERVW-1_ENST00000603053.1_Missense_Mutation_p.T495N	NM_014590.3	NP_055405.3	Q9UQF0	ENW1_HUMAN	endogenous retrovirus group W, member 1	495					syncytium formation	integral to membrane|plasma membrane|virion				endometrium(1)|large_intestine(1)|lung(15)	17						gtagatcttagtcttggactg	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	64	63			NA	NA	7		NA											NA				92098212		2203	4300	6503	SO:0001583	missense			AF208161	CCDS5626.1	7q21.2	2011-06-16	2011-05-05	2011-05-05	ENSG00000242950	ENSG00000242950	30816	30816			13525	other	endogenous retrovirus	envelope protein, HERV-W Env glycoprotein, enverin, syncytin-1, HERV-tryptophan envelope protein, HERV-W{7q21.1} provirus ancestral Env polyprotein, HERV-7q envelope protein, envelope glycoprotein, syncytin	604659	endogenous retroviral family W, env(C7), member 1	ERVWE1	NA	9835022, 9882319, 21542922	Standard	NM_014590	NM_001130925	NA	Approved	HERV-W, HERV-W-ENV, HERVW, HERV-7q	uc022ahe.1	Q9UQF0	OTTHUMG00000131249	ENST00000493463.2:c.1484C>A	7.37:g.92098212G>T	ENSP00000419945:p.Thr495Asn	NA	B2RPD4|O95244|O95245|Q8NHY7|Q9NRZ2|Q9NZG3	37	CCDS5626.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.315955	0.23908	.	.	ENSG00000242950	ENST00000493463	T	0.16457	2.34	0.0465	0.0465	0.14256	.	155.218000	0.04835	U	0.439484	T	0.13114	0.0318	N	0.19112	0.55	0.09310	N	1	.	.	.	.	.	.	T	0.37865	-0.9687	7	0.72032	D	0.01	.	.	.	.	.	.	.	.	N	495	ENSP00000419945:T495N	ENSP00000419945:T495N	T	-	2	0	ERVW-1	91936148	0.059000	0.20769	0.424000	0.26647	0.427000	0.31564	0.170000	0.16663	0.132000	0.18615	0.134000	0.15878	ACT	ERVW-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254009.2		-	ENST00000493463.2	Missense_Mutation	SNP	7 : 92098212 - 92098212 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	556	109
EGR2	1959	broad.mit.edu	37	10	64573855	64573855	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64573855G>A	ENST00000242480.3	-	2	868	c.543C>T	c.(541-543)ctC>ctT	p.L181L	EGR2_ENST00000439032.1_Silent_p.L181L|EGR2_ENST00000411732.1_Silent_p.L131L	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	181					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGTCCTGGTAGAGGTCTCCTG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	86	85			NA	NA	10		NA											NA				64573855		2203	4300	6503	SO:0001819	synonymous_variant			BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877	1959	1959		Zinc fingers, C2H2-type	3239	protein-coding gene	gene with protein product	Krox-20 homolog, Drosophila	129010	early growth response 2 (Krox-20 homolog, Drosophila)	KROX20	NA		Standard	NM_000399	NM_000399	NA	Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.543C>T	10.37:g.64573855G>A		NA	B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	37	CCDS7267.1																																																																																			EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048245.2		-	ENST00000242480.3	Silent	SNP	10 : 64573855 - 64573855 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	612	129
KMT2C	58508	broad.mit.edu	37	7	151945554	151945554	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151945554G>A	ENST00000262189.6	-	14	2183	c.1965C>T	c.(1963-1965)gtC>gtT	p.V655V	KMT2C_ENST00000355193.2_Silent_p.V655V	NM_170606.2	NP_733751.2			lysine (K)-specific methyltransferase 2C	NA											NA						GGTGTGTAACGACTTCAATGT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	74	77			NA	NA	7		NA											NA				151945554		2203	4300	6503	SO:0001819	synonymous_variant			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609	58508	58508		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	13726	protein-coding gene	gene with protein product		606833	myeloid/lymphoid or mixed-lineage leukemia 3	MLL3	NA	10819331	Standard		XM_005250026	NA	Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1965C>T	7.37:g.151945554G>A		NA		37	CCDS5931.1																																																																																			KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318887.3		-	ENST00000262189.6	Silent	SNP	7 : 151945554 - 151945554 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	433	60
POLE	5426	broad.mit.edu	37	12	133225890	133225890	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133225890A>G	ENST00000320574.5	-	31	4049		c.e31+1		POLE_ENST00000535270.1_Splice_Site	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	NA					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CAAGGTCTATACCTGCACAAT	0.652		NA						DNA polymerases (catalytic subunits)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	27	28			NA	NA	12		NA											NA				133225890		2203	4300	6503	SO:0001630	splice_region_variant				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084	5426	5426		DNA polymerases	9177	protein-coding gene	gene with protein product	DNA polymerase epsilon catalytic subunit A	174762	polymerase (DNA directed), epsilon		NA	8020968	Standard	NM_006231	NM_006231	NA	Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4005+1T>C	12.37:g.133225890A>G		NA	Q13533|Q86VH9	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.008225	0.75046	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0387	0.80648	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	POLE	131735963	1.000000	0.71417	0.994000	0.49952	0.851000	0.48451	7.271000	0.78506	2.188000	0.69820	0.454000	0.30748	.	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397689.2	Intron	-	ENST00000320574.5	Splice_Site	SNP	12 : 133225890 - 133225890 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	247	36
AHNAK	79026	broad.mit.edu	37	11	62299523	62299523	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62299523G>A	ENST00000378024.4	-	5	2640	c.2366C>T	c.(2365-2367)gCt>gTt	p.A789V	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	789					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CACATCAGGAGCAGTAACATC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	144	142			NA	NA	11		NA											NA				62299523		2202	4299	6501	SO:0001583	missense			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942	79026	79026			347	protein-coding gene	gene with protein product	desmoyokin	103390	AHNAK nucleoprotein (desmoyokin)		NA	7987395, 12153988	Standard	NM_024060	NM_024060	NA	Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.2366C>T	11.37:g.62299523G>A	ENSP00000367263:p.Ala789Val	NA		37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	0.357	-0.941407	0.02322	.	.	ENSG00000124942	ENST00000378024	T	0.01015	5.44	5.46	0.183	0.15082	.	0.227351	0.25774	N	0.028383	T	0.00724	0.0024	N	0.16602	0.42	0.21950	N	0.999455	B	0.10296	0.003	B	0.19148	0.024	T	0.47812	-0.9088	10	0.30078	T	0.28	-5.7553	8.5539	0.33469	0.196:0.2085:0.5955:0.0	.	789	Q09666	AHNK_HUMAN	V	789	ENSP00000367263:A789V	ENSP00000367263:A789V	A	-	2	0	AHNAK	62056099	0.000000	0.05858	0.525000	0.27900	0.053000	0.15095	-1.663000	0.01968	-0.209000	0.10156	-1.360000	0.01215	GCT	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395572.1		-	ENST00000378024.4	Missense_Mutation	SNP	11 : 62299523 - 62299523 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1056	185
DCP1B	196513	broad.mit.edu	37	12	2062076	2062076	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2062076G>A	ENST00000540622.1	-	4	710	c.652C>T	c.(652-654)Cgt>Tgt	p.R218C	DCP1B_ENST00000280665.6_Missense_Mutation_p.R344C|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.R242C			Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	344					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			TGTACACCACGAGAAGTTCCA	0.507		NA											G	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	1	EXOME	NA	NA	2e-04	SNP								NA				0													83	92	89			NA	NA	12		NA											NA				2062076		2203	4300	6503	SO:0001583	missense			AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065	196513	196513			24451	protein-coding gene	gene with protein product		609843	DCP1 decapping enzyme homolog B (S. cerevisiae)		NA	12417715, 15067023	Standard	NM_152640	NM_152640	NA	Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000540622.1:c.652C>T	12.37:g.2062076G>A	ENSP00000444374:p.Arg218Cys	NA	Q86XH9|Q96BP8|Q96MZ8	37		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	8.968	0.972216	0.18736	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.18960	2.19;2.19;2.18	4.74	0.415	0.16411	.	0.779686	0.12137	N	0.496205	T	0.08980	0.0222	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.30238	-0.9985	10	0.49607	T	0.09	0.9252	8.1297	0.31020	0.4662:0.0:0.5338:0.0	.	242;344	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	C	344;242;218	ENSP00000280665:R344C;ENSP00000380358:R242C;ENSP00000444374:R218C	ENSP00000280665:R344C	R	-	1	0	DCP1B	1932337	0.010000	0.17322	0.000000	0.03702	0.005000	0.04900	0.617000	0.24359	-0.104000	0.12154	-0.137000	0.14449	CGT	DCP1B-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000398246.1		-	ENST00000540622.1	Missense_Mutation	SNP	12 : 2062076 - 2062076 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	460	103
GAB2	9846	broad.mit.edu	37	11	77937523	77937523	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77937523G>A	ENST00000361507.4	-	4	1280	c.1195C>T	c.(1195-1197)Cga>Tga	p.R399*	GAB2_ENST00000340149.2_Nonsense_Mutation_p.R361*	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	399					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CGGTGAAGTCGGCTGTTGTCC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	127	135			NA	NA	11		NA											NA				77937523		2199	4292	6491	SO:0001587	stop_gained			AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327	9846	9846		Pleckstrin homology (PH) domain containing	14458	protein-coding gene	gene with protein product	Grb2-associated binder 2	606203			NA	10391903, 10068651	Standard	NM_080491	NM_080491	NA	Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1195C>T	11.37:g.77937523G>A	ENSP00000354952:p.Arg399*	NA	A2RRM2|A6NEW9|A7MD36|O60317	37	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	G	36	5.678256	0.96764	.	.	ENSG00000033327	ENST00000340149;ENST00000361507	.	.	.	5.21	4.28	0.50868	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3846	13.3867	0.60799	0.0:0.0:0.6566:0.3434	.	.	.	.	X	361;399	.	ENSP00000343959:R361X	R	-	1	2	GAB2	77615171	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	4.405000	0.59741	1.292000	0.44672	0.561000	0.74099	CGA	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391085.1		-	ENST00000361507.4	Nonsense_Mutation	SNP	11 : 77937523 - 77937523 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	637	86
ASAH1	427	broad.mit.edu	37	8	17917112	17917112	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17917112G>A	ENST00000262097.6	-	11	1197	c.886C>T	c.(886-888)Cga>Tga	p.R296*	ASAH1_ENST00000520781.1_Nonsense_Mutation_p.R271*|ASAH1_ENST00000381733.4_Nonsense_Mutation_p.R312*|ASAH1_ENST00000314146.10_Nonsense_Mutation_p.R290*|ASAH1_ENST00000417108.2_Nonsense_Mutation_p.R206*	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	296					ceramide metabolic process	lysosome	ceramidase activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		TTTCTGTCTCGTGTAATCACA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	155	156			NA	NA	8		NA											NA				17917112		2203	4300	6503	SO:0001587	stop_gained			U70063	CCDS6005.1, CCDS6006.1, CCDS47813.1	8p22	2007-03-27	2002-09-11	2002-09-13	ENSG00000104763	ENSG00000104763	427	427			735	protein-coding gene	gene with protein product		613468	N-acylsphingosine amidohydrolase (acid ceramidase)	ASAH	NA	8955159, 10610716	Standard	NM_004315	NM_004315	NA	Approved	AC, PHP32, FLJ21558	uc003wyn.2	Q13510	OTTHUMG00000096997	ENST00000262097.6:c.886C>T	8.37:g.17917112G>A	ENSP00000262097:p.Arg296*	NA	Q6W898	37	CCDS6006.1	.	.	.	.	.	.	.	.	.	.	G	37	6.373901	0.97515	.	.	ENSG00000104763	ENST00000262097;ENST00000381733;ENST00000520781;ENST00000417108;ENST00000314146	.	.	.	5.11	3.25	0.37280	.	0.097792	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.4388	13.7377	0.62829	0.0:0.0:0.6919:0.3081	.	.	.	.	X	296;312;271;206;290	.	ENSP00000262097:R296X	R	-	1	2	ASAH1	17961392	1.000000	0.71417	0.989000	0.46669	0.897000	0.52465	4.721000	0.61951	0.799000	0.34018	0.655000	0.94253	CGA	ASAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214077.2		-	ENST00000262097.6	Nonsense_Mutation	SNP	8 : 17917112 - 17917112 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	583	105
ANKRD26	22852	broad.mit.edu	37	10	27382725	27382725	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27382725C>T	ENST00000376087.4	-	2	411	c.246G>A	c.(244-246)acG>acA	p.T82T	ANKRD26_ENST00000436985.2_Silent_p.T82T	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	82						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						AATGTAGAGCCGTCCTATGAG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	80	81			NA	NA	10		NA											NA				27382725		1978	4216	6194	SO:0001819	synonymous_variant			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890	22852	22852		Ankyrin repeat domain containing	29186	protein-coding gene	gene with protein product		610855	thrombocytopenia 2 (autosomal dominant)	THC2	NA	10470851, 21211618	Standard		NM_014915	NA	Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.246G>A	10.37:g.27382725C>T		NA	A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	37	CCDS41499.1																																																																																			ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047296.1		-	ENST00000376087.4	Silent	SNP	10 : 27382725 - 27382725 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	275	52
CAD	790	broad.mit.edu	37	2	27449826	27449826	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27449826C>T	ENST00000403525.1	+	14	2238	c.2094C>T	c.(2092-2094)agC>agT	p.S698S	CAD_ENST00000264705.4_Silent_p.S761S			P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	761	ATP-grasp 1.|CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GCATGAAGAGCGTTGGTGAGA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	94	94			NA	NA	2		NA											NA				27449826		2203	4300	6503	SO:0001819	synonymous_variant			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	790	790	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010			NA	8619816, 2565865	Standard		NM_004341	NA	Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.2094C>T	2.37:g.27449826C>T		NA	D6W552|Q6P0Q0	37																																																																																				CAD-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000324970.1		+	ENST00000403525.1	Silent	SNP	2 : 27449826 - 27449826 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	645	97
DSC3	1825	broad.mit.edu	37	18	28602455	28602455	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28602455C>T	ENST00000360428.4	-	7	869	c.789G>A	c.(787-789)ggG>ggA	p.G263G	DSC3_ENST00000434452.1_Silent_p.G263G	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	263	Cadherin 2.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CACAAACCACCCCCACTGTAG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	109	113			NA	NA	18		NA											NA				28602455		2203	4300	6503	SO:0001819	synonymous_variant			X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762	1825	1825		Cadherins / Major cadherins	3037	protein-coding gene	gene with protein product		600271		DSC4	NA	7774948, 8486729	Standard	NM_001941, NM_024423	NM_001941	NA	Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.789G>A	18.37:g.28602455C>T		NA	A6NN35|Q14200|Q9HAZ9	37	CCDS32810.1																																																																																			DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447384.1		-	ENST00000360428.4	Silent	SNP	18 : 28602455 - 28602455 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	330	47
NRAP	4892	broad.mit.edu	37	10	115385861	115385861	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115385861A>G	ENST00000359988.3	-	21	2433	c.2189T>C	c.(2188-2190)gTg>gCg	p.V730A	NRAP_ENST00000369360.3_Missense_Mutation_p.V703A|NRAP_ENST00000369358.4_Missense_Mutation_p.V738A|NRAP_ENST00000360478.3_Missense_Mutation_p.V695A	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	730						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)		GCTGTCGGTCACGCTGGTGAA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	79	88			NA	NA	10		NA											NA				115385861		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.2189T>C	10.37:g.115385861A>G	ENSP00000353078:p.Val730Ala	NA	O15500|Q5VWI3|Q5VWI4|Q6MZK3|Q6N026|Q6N059|Q6NSH8|Q6PDB0|Q719H6|Q86TC5|Q86TD6|Q86TE6|Q86VF6|Q8N3R6|Q8N8F9|Q8TCH0|Q96MG4	37	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.719256	0.89205	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.62684	0.2448	M	0.77486	2.375	0.52501	D	0.999958	D;D;D;D	0.89917	0.997;1.0;0.999;0.999	D;D;D;D	0.85130	0.992;0.997;0.99;0.984	T	0.65928	-0.6049	10	0.62326	D	0.03	.	16.1557	0.81666	1.0:0.0:0.0:0.0	.	410;730;695;730	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	A	738;703;730;695;410	ENSP00000358365:V738A;ENSP00000358367:V703A;ENSP00000353078:V730A;ENSP00000353666:V695A	ENSP00000353078:V730A	V	-	2	0	NRAP	115375851	1.000000	0.71417	0.993000	0.49108	0.788000	0.44548	7.949000	0.87791	2.291000	0.77112	0.533000	0.62120	GTG	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050425.2		-	ENST00000359988.3	Missense_Mutation	SNP	10 : 115385861 - 115385861 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	125	21
XCR1	2829	broad.mit.edu	37	3	46063378	46063378	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46063378G>A	ENST00000309285.3	-	2	418	c.62C>T	c.(61-63)cCg>cTg	p.P21L	XCR1_ENST00000542109.1_Missense_Mutation_p.P21L	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	21					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GTTCTCACACGGCTGGCTCTG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	80	79			NA	NA	3		NA											NA				46063378		2203	4300	6503	SO:0001583	missense				CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578	2829	2829		GPCR / Class A : Chemokine receptors : X-C motif	1625	protein-coding gene	gene with protein product		600552	chemokine (C motif) XC receptor 1	GPR5, CCXCR1	NA	7832990, 10400311	Standard		NM_005283	NA	Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.62C>T	3.37:g.46063378G>A	ENSP00000310405:p.Pro21Leu	NA		37	CCDS2736.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.271567	0.00257	.	.	ENSG00000173578	ENST00000309285;ENST00000542109;ENST00000395946	T;T	0.67523	-0.27;-0.27	5.03	2.58	0.30949	.	1.364650	0.05708	N	0.595466	T	0.43456	0.1248	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.26916	-1.0089	10	0.24483	T	0.36	.	3.3904	0.07287	0.6493:0.0:0.1824:0.1682	.	21	P46094	XCR1_HUMAN	L	21	ENSP00000310405:P21L;ENSP00000438119:P21L	ENSP00000310405:P21L	P	-	2	0	XCR1	46038382	0.021000	0.18746	0.196000	0.23383	0.002000	0.02628	1.001000	0.29783	0.257000	0.21650	-1.144000	0.01866	CCG	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257322.2		-	ENST00000309285.3	Missense_Mutation	SNP	3 : 46063378 - 46063378 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	369	66
NME2	4831	broad.mit.edu	37	17	49244308	49244308	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:49244308G>A	ENST00000555572.1	+	6	713	c.537G>A	c.(535-537)aaG>aaA	p.K179K	NME1-NME2_ENST00000514264.2_Silent_p.K39K|NME1-NME2_ENST00000393190.1_Silent_p.K39K|NME1-NME2_ENST00000513177.1_Silent_p.K39K|NME1-NME2_ENST00000393198.3_Silent_p.K154K|NME1-NME2_ENST00000503064.1_Silent_p.K39K|NME1-NME2_ENST00000393183.3_5'UTR|NME1-NME2_ENST00000512737.1_Silent_p.K39K|NME2_ENST00000376392.6_Silent_p.K154K|NME1-NME2_ENST00000393185.1_5'UTR|NME2_ENST00000393193.2_Silent_p.K154K|NME1-NME2_ENST00000608447.1_Silent_p.K179K					NME/NM23 nucleoside diphosphate kinase 2	NA										endometrium(1)|kidney(1)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			TGGCCATGAAGTTCCTCCGGG	0.667		NA									OREG0024580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(49;809 1203 4404 15246)							NA				0													60	53	55			NA	NA	17		NA											NA				49244308		2203	4299	6502	SO:0001819	synonymous_variant			X58965	CCDS11580.1, CCDS74107.1	17q21.33	2013-04-29	2012-05-18		ENSG00000011052	ENSG00000011052	4831	4831			7850	protein-coding gene	gene with protein product		156491	non-metastatic cells 2, protein (NM23B) expressed in		NA	1988104, 19852809	Standard	NM_002512	NM_001018137	NA	Approved	NM23-H2, NDPKB		P22392	OTTHUMG00000154062	ENST00000555572.1:c.537G>A	17.37:g.49244308G>A		960		37																																																																																				NME2-002	NOVEL	basic|appris_candidate_longest|readthrough_transcript	protein_coding	NA	protein_coding	OTTHUMT00000268665.1		+	ENST00000555572.1	Silent	SNP	17 : 49244308 - 49244308 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	539	78
MYOZ2	51778	broad.mit.edu	37	4	120072119	120072119	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120072119C>T	ENST00000307128.5	+	3	382	c.169C>T	c.(169-171)Cta>Tta	p.L57L		NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN	myozenin 2	57							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						TGGTGCCAGGCTATTTAAGAT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	129	132			NA	NA	4		NA											NA				120072119		2203	4300	6503	SO:0001819	synonymous_variant			AF249873	CCDS3711.1	4q26-q27	2014-09-17	2002-01-07	2002-01-11	ENSG00000172399	ENSG00000172399	51778	51778			1330	protein-coding gene	gene with protein product		605602	chromosome 4 open reading frame 5	C4orf5	NA	8619474, 9110174	Standard		NM_016599	NA	Approved	CS-1	uc003icp.4	Q9NPC6	OTTHUMG00000132968	ENST00000307128.5:c.169C>T	4.37:g.120072119C>T		NA	O43415|Q9HB92	37	CCDS3711.1																																																																																			MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256526.2		+	ENST00000307128.5	Silent	SNP	4 : 120072119 - 120072119 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	466	86
ZC3H7B	23264	broad.mit.edu	37	22	41753416	41753416	+	Missense_Mutation	SNP	G	G	A	rs140753362		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41753416G>A	ENST00000352645.4	+	23	3174	c.2917G>A	c.(2917-2919)Gcc>Acc	p.A973T	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.A973T	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	989					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TGCTGCCACCGCCACCACTGG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense				CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403	23264	23264		Zinc fingers, CCCH-type domain containing, Tetratricopeptide (TTC) repeat domain containing	30869	protein-coding gene	gene with protein product					NA	10470851, 11230166	Standard	NM_017590	NM_017590	NA	Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.2917G>A	22.37:g.41753416G>A	ENSP00000345793:p.Ala973Thr	NA	A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	37	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	G	8.683	0.905514	0.17760	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.12039	2.72;2.72	4.48	-8.95	0.00765	.	1.536640	0.03786	N	0.262041	T	0.05731	0.0150	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28202	-1.0051	9	0.15499	T	0.54	-0.9031	6.3307	0.21269	0.5147:0.0:0.2934:0.1919	.	973	Q9UGR2-2	.	T	973	ENSP00000345793:A973T;ENSP00000263243:A973T	ENSP00000263243:A973T	A	+	1	0	ZC3H7B	40083362	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.164000	0.09983	-2.096000	0.00852	-1.842000	0.00583	GCC	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320696.1		+	ENST00000352645.4	Missense_Mutation	SNP	22 : 41753416 - 41753416 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	851	165
OR51M1	390059	broad.mit.edu	37	11	5411487	5411487	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5411487C>T	ENST00000328611.3	+	1	881	c.859C>T	c.(859-861)Ctt>Ttt	p.L287F	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	287						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATTCATCTTCTTATGGCCAA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	53	55			NA	NA	11		NA											NA				5411487		2010	4191	6201	SO:0001583	missense			BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698	390059	390059		GPCR / Class A : Olfactory receptors	14847	protein-coding gene	gene with protein product					NA		Standard	NM_001004756	NM_001004756	NA	Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.859C>T	11.37:g.5411487C>T	ENSP00000333196:p.Leu287Phe	NA		37	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	C	8.381	0.837469	0.16891	.	.	ENSG00000184698	ENST00000328611	T	0.00152	8.66	5.24	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	0.646517	0.11717	U	0.536311	T	0.00144	0.0004	L	0.42581	1.335	0.21386	N	0.9997	B	0.18310	0.027	B	0.30316	0.114	T	0.16837	-1.0389	10	0.44086	T	0.13	.	6.9332	0.24453	0.0:0.5769:0.2697:0.1535	.	276	Q9H341	O51M1_HUMAN	F	287	ENSP00000333196:L287F	ENSP00000333196:L287F	L	+	1	0	OR51M1	5368063	0.000000	0.05858	0.454000	0.27019	0.617000	0.37484	-1.505000	0.02273	0.364000	0.24374	0.655000	0.94253	CTT	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000142981.1		+	ENST00000328611.3	Missense_Mutation	SNP	11 : 5411487 - 5411487 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	198	38
PIWIL2	55124	broad.mit.edu	37	8	22168639	22168639	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22168639C>A	ENST00000521356.1	+	16	1923	c.1815C>A	c.(1813-1815)ttC>ttA	p.F605L	PIWIL2_ENST00000454009.2_Missense_Mutation_p.F605L|PIWIL2_ENST00000356766.6_Missense_Mutation_p.F605L			Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	605					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CCATGCATTTCTGGGCACTTT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	101	100			NA	NA	8		NA											NA				22168639		2203	4300	6503	SO:0001583	missense			AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181	55124	55124		Argonaute/PIWI family	17644	protein-coding gene	gene with protein product	Hiwi-like, cancer/testis antigen 80	610312	piwi-like 2 (Drosophila)		NA	11279525, 12906857	Standard		NM_018068	NA	Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000521356.1:c.1815C>A	8.37:g.22168639C>A	ENSP00000428267:p.Phe605Leu	NA	A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|Q96SW6|Q9NW28	37		.	.	.	.	.	.	.	.	.	.	C	9.487	1.099794	0.20552	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.08102	3.13;3.13;3.13	5.8	4.01	0.46588	Ribonuclease H-like (1);	0.270137	0.43416	D	0.000575	T	0.08626	0.0214	M	0.63428	1.95	0.38202	D	0.940228	B;B	0.12630	0.006;0.006	B;B	0.04013	0.001;0.001	T	0.14117	-1.0484	10	0.09590	T	0.72	-1.5471	8.6361	0.33948	0.0:0.7649:0.0:0.2351	.	605;605	E7ECA4;Q8TC59	.;PIWL2_HUMAN	L	605	ENSP00000349208:F605L;ENSP00000428267:F605L;ENSP00000406956:F605L	ENSP00000349208:F605L	F	+	3	2	PIWIL2	22224584	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.638000	0.37165	0.798000	0.33994	0.561000	0.74099	TTC	PIWIL2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000375437.1		+	ENST00000521356.1	Missense_Mutation	SNP	8 : 22168639 - 22168639 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	694	138
RFX1	5989	broad.mit.edu	37	19	14080831	14080831	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14080831G>T	ENST00000254325.4	-	10	1705	c.1471C>A	c.(1471-1473)Ctg>Atg	p.L491M		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	491					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CGGGTTCGCAGGCCCATGAAG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	51	51			NA	NA	19		NA											NA				14080831		2203	4300	6503	SO:0001583	missense				CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005	5989	5989			9982	protein-coding gene	gene with protein product	trans-acting regulatory factor 1, enhancer factor C, MHC class II regulatory factor RFX	600006			NA	1505960, 8289803	Standard	NM_002918	NM_002918	NA	Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.1471C>A	19.37:g.14080831G>T	ENSP00000254325:p.Leu491Met	NA		37	CCDS12301.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.922568	0.73213	.	.	ENSG00000132005	ENST00000254325	D	0.85556	-2.0	4.89	3.79	0.43588	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.000000	0.64402	D	0.000001	D	0.91998	0.7465	M	0.85859	2.78	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	D	0.92113	0.5697	10	0.87932	D	0	-21.6286	10.9679	0.47422	0.1032:0.0:0.8968:0.0	.	491	P22670	RFX1_HUMAN	M	491	ENSP00000254325:L491M	ENSP00000254325:L491M	L	-	1	2	RFX1	13941831	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	4.068000	0.57534	0.929000	0.37192	0.563000	0.77884	CTG	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458510.1		-	ENST00000254325.4	Missense_Mutation	SNP	19 : 14080831 - 14080831 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	299	52
ENPP4	22875	broad.mit.edu	37	6	46108086	46108086	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46108086G>T	ENST00000321037.4	+	2	996	c.766G>T	c.(766-768)Gat>Tat	p.D256Y		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	256						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						TTCCTGCATCGATCATTCATA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	93	93			NA	NA	6		NA											NA				46108086		2203	4300	6503	SO:0001583	missense			AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561	22875	22875			3359	protein-coding gene	gene with protein product					NA	11027689	Standard		NM_014936	NA	Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.766G>T	6.37:g.46108086G>T	ENSP00000318066:p.Asp256Tyr	NA	A8K5G1|Q7L2N1	37	CCDS34468.1	.	.	.	.	.	.	.	.	.	.	G	8.431	0.848678	0.17034	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	T	0.77229	-1.08	5.67	-4.04	0.04010	Alkaline-phosphatase-like, core domain (1);	0.748364	0.14196	N	0.334993	T	0.73265	0.3565	M	0.88105	2.93	0.09310	N	1	P	0.44690	0.841	P	0.50314	0.637	T	0.73786	-0.3873	10	0.87932	D	0	-1.2773	8.3418	0.32247	0.4755:0.099:0.4256:0.0	.	256	Q9Y6X5	ENPP4_HUMAN	Y	256	ENSP00000318066:D256Y	ENSP00000318066:D256Y	D	+	1	0	ENPP4	46216045	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.161000	0.16481	-1.063000	0.03177	-0.768000	0.03414	GAT	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040777.2		+	ENST00000321037.4	Missense_Mutation	SNP	6 : 46108086 - 46108086 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	420	18
MUC16	94025	broad.mit.edu	37	19	9072986	9072986	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9072986A>G	ENST00000397910.4	-	3	14663	c.14460T>C	c.(14458-14460)gaT>gaC	p.D4820D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4822	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						TTGTCTCTATATCTGTGGTGG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	142	145			NA	NA	19		NA											NA				9072986		2075	4219	6294	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.14460T>C	19.37:g.9072986A>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 : 9072986 - 9072986 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	52
SPTBN2	6712	broad.mit.edu	37	11	66455061	66455061	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66455061G>A	ENST00000533211.1	-	35	6890	c.6559C>T	c.(6559-6561)Cgg>Tgg	p.R2187W	SPTBN2_ENST00000309996.2_Missense_Mutation_p.R2187W|SPTBN2_ENST00000529997.1_Missense_Mutation_p.R2187W			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2187					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCCGGGCCCCGAGTCCGGGTC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	32	29			NA	NA	11		NA											NA				66455061		2197	4293	6490	SO:0001583	missense			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898	6712	6712		Pleckstrin homology (PH) domain containing	11276	protein-coding gene	gene with protein product		604985	spinocerebellar ataxia 5	SCA5	NA	9826670, 16429157	Standard	NM_006946	NM_006946	NA	Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.6559C>T	11.37:g.66455061G>A	ENSP00000432568:p.Arg2187Trp	NA	O14872|O14873	37	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741130	0.69304	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.72051	-0.61;-0.61;-0.62	5.04	5.04	0.67666	.	0.880280	0.09922	N	0.738306	T	0.69424	0.3109	N	0.14661	0.345	0.09310	N	1	D	0.71674	0.998	P	0.57468	0.821	T	0.62647	-0.6810	10	0.66056	D	0.02	.	13.0913	0.59167	0.0:0.1615:0.8385:0.0	.	2187	O15020	SPTN2_HUMAN	W	2187;2187;2187;731	ENSP00000432568:R2187W;ENSP00000311489:R2187W;ENSP00000433593:R2187W	ENSP00000311489:R2187W	R	-	1	2	SPTBN2	66211637	0.000000	0.05858	0.101000	0.21167	0.642000	0.38348	0.244000	0.18124	2.629000	0.89072	0.655000	0.94253	CGG	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393892.2		-	ENST00000533211.1	Missense_Mutation	SNP	11 : 66455061 - 66455061 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	211	47
SPTLC1	10558	broad.mit.edu	37	9	94842364	94842364	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:94842364C>T	ENST00000262554.2	-	5	366	c.361G>A	c.(361-363)Gct>Act	p.A121T	SPTLC1_ENST00000337841.4_Missense_Mutation_p.A121T|SPTLC1_ENST00000482632.1_5'UTR	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	121						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GATGCTAAAGCTGCTGCCTTT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	76	76			NA	NA	9		NA											NA				94842364		2203	4300	6503	SO:0001583	missense			Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	10558	10558	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	hereditary sensory neuropathy, type 1	HSN1	NA	9363775	Standard	NM_006415	NM_006415	NA	Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.361G>A	9.37:g.94842364C>T	ENSP00000262554:p.Ala121Thr	NA	A8K681|Q5VWB4	37	CCDS6692.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.032641	0.93575	.	.	ENSG00000090054	ENST00000262554;ENST00000337841	D;D	0.95554	-2.83;-3.74	5.44	5.44	0.79542	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.98099	0.9373	M	0.88775	2.98	0.80722	D	1	D;D;D;D	0.69078	0.991;0.996;0.995;0.997	D;D;D;D	0.77557	0.987;0.921;0.973;0.99	D	0.98626	1.0669	10	0.87932	D	0	-19.3186	19.0495	0.93038	0.0:1.0:0.0:0.0	.	121;121;116;121	Q6NUL7;Q96IX6;Q59EQ4;O15269	.;.;.;SPTC1_HUMAN	T	121	ENSP00000262554:A121T;ENSP00000337635:A121T	ENSP00000262554:A121T	A	-	1	0	SPTLC1	93882185	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.691000	0.68249	2.832000	0.97577	0.655000	0.94253	GCT	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055553.1		-	ENST00000262554.2	Missense_Mutation	SNP	9 : 94842364 - 94842364 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	403	70
MISP	126353	broad.mit.edu	37	19	758345	758345	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:758345C>T	ENST00000215582.6	+	2	1502	c.1399C>T	c.(1399-1401)Ccg>Tcg	p.P467S		NM_173481.2	NP_775752.1			mitotic spindle positioning	NA											NA						CACGATGTCCCCGAGGCATCT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	44	46			NA	NA	19		NA											NA				758345		2203	4300	6503	SO:0001583	missense			BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812	126353	126353			27000	protein-coding gene	gene with protein product	mitotic interactor and substrate of Plk1	615289	chromosome 19 open reading frame 21	C19orf21	NA	23574715, 23509069, 24475924	Standard	NM_173481	NM_173481	NA	Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.1399C>T	19.37:g.758345C>T	ENSP00000215582:p.Pro467Ser	NA		37	CCDS12042.1	.	.	.	.	.	.	.	.	.	.	C	1.153	-0.646140	0.03531	.	.	ENSG00000099812	ENST00000215582	T	0.27890	1.64	3.81	2.76	0.32466	.	3.298150	0.01039	N	0.004271	T	0.32496	0.0831	L	0.54323	1.7	0.09310	N	1	B	0.18310	0.027	B	0.15870	0.014	T	0.16897	-1.0387	10	0.37606	T	0.19	-0.007	7.1168	0.25421	0.0:0.7252:0.173:0.1017	.	467	Q8IVT2	CS021_HUMAN	S	467	ENSP00000215582:P467S	ENSP00000215582:P467S	P	+	1	0	C19orf21	709345	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.216000	0.17585	0.886000	0.36113	-0.339000	0.08088	CCG	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457600.2		+	ENST00000215582.6	Missense_Mutation	SNP	19 : 758345 - 758345 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	312	60
PLOD1	5351	broad.mit.edu	37	1	12004699	12004699	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12004699G>A	ENST00000196061.4	+	2	103				PLOD1_ENST00000376369.3_Missense_Mutation_p.R66H|PLOD1_ENST00000485046.1_Intron	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	NA					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	AGCATCCCTCGTTTCTGGATC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	26	27			NA	NA	1		NA											NA				12004699		876	1991	2867	SO:0001627	intron_variant			BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	5351	5351	1.14.11.4		9081	protein-coding gene	gene with protein product	lysyl hydroxlase 1	153454	procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)	LLH, PLOD	NA	1577494	Standard	NM_000302	NM_000302	NA	Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.77-3334G>A	1.37:g.12004699G>A		NA	Q96AV9|Q9H132	37	CCDS142.1	.	.	.	.	.	.	.	.	.	.	G	9.542	1.113608	0.20795	.	.	ENSG00000083444	ENST00000449038;ENST00000376369	T;T	0.66099	2.4;-0.19	3.43	-3.6	0.04570	.	.	.	.	.	T	0.34454	0.0898	.	.	.	0.09310	N	1	P	0.34892	0.474	B	0.19666	0.026	T	0.15178	-1.0446	8	0.42905	T	0.14	.	1.3132	0.02102	0.1712:0.376:0.1832:0.2696	.	66	B4DR87	.	H	66	ENSP00000414443:R66H;ENSP00000365548:R66H	ENSP00000365548:R66H	R	+	2	0	PLOD1	11927286	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.244000	0.08903	-0.562000	0.06086	-2.053000	0.00404	CGT	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006865.1		+	ENST00000196061.4	Intron	SNP	1 : 12004699 - 12004699 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	77	17
LCT	3938	broad.mit.edu	37	2	136570077	136570077	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136570077C>T	ENST00000264162.2	-	7	2167	c.2157G>A	c.(2155-2157)caG>caA	p.Q719Q		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	719	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)		AGGATGAGGTCTGGGGCCACA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	95	95			NA	NA	2		NA											NA				136570077		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.2157G>A	2.37:g.136570077C>T		NA	Q4ZG58	37	CCDS2178.1																																																																																			LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254657.1		-	ENST00000264162.2	Silent	SNP	2 : 136570077 - 136570077 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	453	42
KMO	8564	broad.mit.edu	37	1	241729796	241729796	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241729796A>C	ENST00000366559.4	+	9	1004	c.693A>C	c.(691-693)aaA>aaC	p.K231N	KMO_ENST00000366557.4_Missense_Mutation_p.K231N|KMO_ENST00000366558.3_Missense_Mutation_p.K231N	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	231					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			CACAGAACAAATCATTCACAT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	140	142			NA	NA	1		NA											NA				241729796		2203	4300	6503	SO:0001583	missense			AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	8564	8564	1.14.13.9		6381	protein-coding gene	gene with protein product		603538			NA	9237672	Standard	NM_003679	NM_003679	NA	Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.693A>C	1.37:g.241729796A>C	ENSP00000355517:p.Lys231Asn	NA	A2A2U8|A2A2U9|A2A2V0|Q5SY07|Q5SY08|Q5SY09	37	CCDS1618.1	.	.	.	.	.	.	.	.	.	.	A	12.46	1.945479	0.34377	.	.	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	T;T;T	0.51574	0.7;0.7;0.7	5.92	3.65	0.41850	Monooxygenase, FAD-binding (1);	0.084078	0.85682	D	0.000000	T	0.57007	0.2024	L	0.60067	1.865	0.58432	D	0.999996	D;D;P	0.60575	0.988;0.988;0.791	P;P;B	0.62491	0.903;0.903;0.319	T	0.55964	-0.8057	10	0.48119	T	0.1	.	8.0608	0.30631	0.8372:0.0:0.1628:0.0	.	231;231;231	O15229;A8K693;O15229-2	KMO_HUMAN;.;.	N	231	ENSP00000355517:K231N;ENSP00000355516:K231N;ENSP00000355515:K231N	ENSP00000355515:K231N	K	+	3	2	KMO	239796419	1.000000	0.71417	1.000000	0.80357	0.340000	0.28889	3.617000	0.54181	1.083000	0.41159	0.528000	0.53228	AAA	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095612.1		+	ENST00000366559.4	Missense_Mutation	SNP	1 : 241729796 - 241729796 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	569	136
CD5L	922	broad.mit.edu	37	1	157804531	157804531	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157804531C>T	ENST00000368174.4	-	4	480	c.384G>A	c.(382-384)gaG>gaA	p.E128E		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	128					apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGAAAGAGCTCTCTGGGTCTG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	59	58			NA	NA	1		NA											NA				157804531		2203	4300	6503	SO:0001819	synonymous_variant			U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754	922	922			1690	protein-coding gene	gene with protein product		602592	apoptosis inhibitor 6, CD5 antigen-like (scavenger receptor cysteine rich family)	API6	NA	9045627	Standard	NM_005894	NM_005894	NA	Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.384G>A	1.37:g.157804531C>T		NA	A8K7M5|Q6UX63	37	CCDS1171.1																																																																																			CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058346.1		-	ENST00000368174.4	Silent	SNP	1 : 157804531 - 157804531 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	427	110
PPP2R1A	5518	broad.mit.edu	37	19	52729015	52729015	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52729015G>T	ENST00000322088.6	+	14	1765	c.1707G>T	c.(1705-1707)caG>caT	p.Q569H	CTD-2525I3.3_ENST00000593857.1_RNA|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.Q390H|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.Q514H	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	569	PP2A subunit C binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		AGCTGACCCAGGACCAGGATG	0.567		NA	Mis		clear cell ovarian carcinoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom?	yes		19	19q13.41	5518	protein phosphatase 2, regulatory subunit A, alpha		E	0													143	139	140			NA	NA	19		NA											NA				52729015		2203	4300	6503	SO:0001583	missense				CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	5518	5518	3.1.3.16	Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits	9302	protein-coding gene	gene with protein product	protein phosphatase 2A, regulatory subunit A, alpha isoform, protein phosphatase 2, 65kDa regulatory subunit A	605983	protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform, protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform		NA		Standard	NM_014225	NR_033500	NA	Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.1707G>T	19.37:g.52729015G>T	ENSP00000324804:p.Gln569His	NA	Q13773|Q6ICQ3|Q96DH3	37	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080854	0.36758	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000436460;ENST00000444322	T;T	0.33438	1.41;2.36	4.33	4.33	0.51752	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.53938	D	0.000048	T	0.25082	0.0609	L	0.45228	1.405	0.46927	D	0.999252	B;B	0.10296	0.002;0.003	B;B	0.10450	0.003;0.005	T	0.09530	-1.0670	10	0.62326	D	0.03	-26.7592	8.3321	0.32193	0.1055:0.0:0.8945:0.0	.	514;569	F5H3X9;P30153	.;2AAA_HUMAN	H	559;489;569;136;514	ENSP00000324804:Q569H;ENSP00000415067:Q514H	ENSP00000324804:Q569H	Q	+	3	2	PPP2R1A	57420827	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.085000	0.30840	2.413000	0.81919	0.650000	0.86243	CAG	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000267967.2		+	ENST00000322088.6	Missense_Mutation	SNP	19 : 52729015 - 52729015 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	627	118
CNOT6L	246175	broad.mit.edu	37	4	78650217	78650217	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78650217G>A	ENST00000504123.1	-	10	1173	c.1043C>T	c.(1042-1044)gCt>gTt	p.A348V	CNOT6L_ENST00000264903.4_Missense_Mutation_p.A348V			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	348					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TTTGTCTGCAGCATGAATAGG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	83	84			NA	NA	4		NA											NA				78650217		1848	4099	5947	SO:0001583	missense			AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767	246175	246175			18042	protein-coding gene	gene with protein product					NA		Standard		NM_144571	NA	Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1043C>T	4.37:g.78650217G>A	ENSP00000424896:p.Ala348Val	NA	Q9UF92	37		.	.	.	.	.	.	.	.	.	.	G	14.47	2.545002	0.45280	.	.	ENSG00000138767	ENST00000504123;ENST00000264903;ENST00000512485;ENST00000505983	T;T;T;T	0.43688	1.53;1.53;1.68;0.94	5.63	5.63	0.86233	Endonuclease/exonuclease/phosphatase (2);	0.297866	0.37304	N	0.002160	T	0.22742	0.0549	N	0.03154	-0.405	0.40114	D	0.976523	B;B	0.10296	0.003;0.001	B;B	0.10450	0.005;0.003	T	0.14476	-1.0471	10	0.11485	T	0.65	-3.1273	18.444	0.90677	0.0:0.0:1.0:0.0	.	321;348	Q96LI5-2;Q96LI5	.;CNO6L_HUMAN	V	348;348;355;123	ENSP00000424896:A348V;ENSP00000264903:A348V;ENSP00000425571:A355V;ENSP00000426320:A123V	ENSP00000264903:A348V	A	-	2	0	CNOT6L	78869241	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.736000	0.55052	2.653000	0.90120	0.563000	0.77884	GCT	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000362515.1		-	ENST00000504123.1	Missense_Mutation	SNP	4 : 78650217 - 78650217 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	530	98
EP300	2033	broad.mit.edu	37	22	41513320	41513320	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41513320C>T	ENST00000263253.7	+	2	1443	c.224C>T	c.(223-225)gCt>gTt	p.A75V		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	75	Interaction with ALX1.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAAGATGCAGCTTCTAAACAT	0.458		NA	T,  N, F, Mis, O	MLL, RUNXBP2	colorectal, breast, pancreatic, AML, ALL, DLBCL				Rubinstein-Taybi syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		L, E	0													116	108	111			NA	NA	22		NA											NA				41513320		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393	2033	2033		Chromatin-modifying enzymes / K-acetyltransferases	3373	protein-coding gene	gene with protein product	histone acetyltransferase p300	602700			NA	7523245	Standard	NM_001429	NM_001429	NA	Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.224C>T	22.37:g.41513320C>T	ENSP00000263253:p.Ala75Val	NA	B1AKC2	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957203	0.92726	.	.	ENSG00000100393	ENST00000263253	D	0.84370	-1.84	5.98	5.98	0.97165	.	0.000000	0.48286	D	0.000193	D	0.89462	0.6722	L	0.55213	1.73	0.58432	D	0.999998	P	0.51147	0.942	P	0.57244	0.816	D	0.86223	0.1632	10	0.30078	T	0.28	-7.1964	20.4581	0.99154	0.0:1.0:0.0:0.0	.	75	Q09472	EP300_HUMAN	V	75	ENSP00000263253:A75V	ENSP00000263253:A75V	A	+	2	0	EP300	39843266	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	3.074000	0.50065	2.835000	0.97688	0.650000	0.86243	GCT	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320600.1		+	ENST00000263253.7	Missense_Mutation	SNP	22 : 41513320 - 41513320 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	383	118
MT1H	4496	broad.mit.edu	37	16	56704811	56704811	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56704811C>A	ENST00000332374.4	+	3	167	c.96C>A	c.(94-96)agC>agA	p.S32R	MT1H_ENST00000569155.1_3'UTR	NM_005951.2	NP_005942.1	P80294	MT1H_HUMAN	metallothionein 1H	32	Alpha.						metal ion binding|protein binding			lung(5)	5						TTTCCCCAGGCTGCTGCTCCT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	113	116			NA	NA	16		NA											NA				56704811		2198	4300	6498	SO:0001630	splice_region_variant			BC008408	CCDS10767.1	16q13	2008-02-05			ENSG00000205358	ENSG00000205358	4496	4496		Metallothioneins	7400	protein-coding gene	gene with protein product		156354		MT1	NA	2286373, 8049263	Standard	NM_005951	NM_005951	NA	Approved		uc002ejw.3	P80294	OTTHUMG00000133283	ENST00000332374.4:c.95-1C>A	16.37:g.56704811C>A		NA	B2RUY6	37	CCDS10767.1	.	.	.	.	.	.	.	.	.	.	C	8.694	0.908037	0.17833	.	.	ENSG00000205358	ENST00000332374	T	0.12984	2.63	2.6	2.6	0.31112	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.064398	0.64402	U	0.000011	T	0.11750	0.0286	.	.	.	0.80722	D	1	B	0.19935	0.04	B	0.12837	0.008	T	0.08722	-1.0708	9	0.87932	D	0	.	10.313	0.43721	0.0:1.0:0.0:0.0	.	32	P80294	MT1H_HUMAN	R	32	ENSP00000330587:S32R	ENSP00000330587:S32R	S	+	3	2	MT1H	55262312	1.000000	0.71417	0.965000	0.40720	0.142000	0.21351	1.968000	0.40500	1.141000	0.42275	0.313000	0.20887	AGC	MT1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257063.1	Missense_Mutation	+	ENST00000332374.4	Splice_Site	SNP	16 : 56704811 - 56704811 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	619	43
FAM179B	23116	broad.mit.edu	37	14	45431649	45431649	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45431649C>A	ENST00000361462.2	+	1	208	c.25C>A	c.(25-27)Ctt>Att	p.L9I	FAM179B_ENST00000382233.2_Missense_Mutation_p.L9I|FAM179B_ENST00000361577.3_Missense_Mutation_p.L9I			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	9							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CTCCGCGCTGCTTCTGCTGCC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	23	22			NA	NA	14		NA											NA				45431649		2198	4298	6496	SO:0001583	missense			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718	23116	23116			19959	protein-coding gene	gene with protein product			KIAA0423	KIAA0423	NA		Standard	XM_113781	XM_005267451	NA	Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361462.2:c.25C>A	14.37:g.45431649C>A	ENSP00000354917:p.Leu9Ile	NA	Q68D66|Q6PG27	37		.	.	.	.	.	.	.	.	.	.	C	14.35	2.508303	0.44660	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.38240	2.33;2.33;1.15	4.88	2.95	0.34219	.	0.355039	0.20528	N	0.090567	T	0.24774	0.0601	N	0.24115	0.695	0.19575	N	0.999969	B;B;B;B	0.28760	0.221;0.221;0.221;0.221	B;B;B;B	0.34652	0.121;0.187;0.187;0.187	T	0.18681	-1.0329	10	0.48119	T	0.1	-0.5936	6.3557	0.21400	0.0:0.7529:0.0:0.2471	.	9;9;9;9	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	I	9	ENSP00000355045:L9I;ENSP00000354917:L9I;ENSP00000371668:L9I	ENSP00000354917:L9I	L	+	1	0	FAM179B	44501399	0.933000	0.31639	0.356000	0.25785	0.748000	0.42578	1.172000	0.31908	0.555000	0.29079	0.655000	0.94253	CTT	FAM179B-002	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000276792.1		+	ENST00000361462.2	Missense_Mutation	SNP	14 : 45431649 - 45431649 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	52
ZNF354A	6940	broad.mit.edu	37	5	178152398	178152398	+	Missense_Mutation	SNP	C	C	T	rs145090436	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178152398C>T	ENST00000335815.2	-	4	432	c.235G>A	c.(235-237)Ggt>Agt	p.G79S		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	79	KRAB.				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		ACGCCAGAACCGTCTTTCTCC	0.527		NA											C	1	5e-04	NA	NA	2184	0.0017	0.9996	,	,	NA	3e-04	NA	NA	NA	6e-04	0.764	EXOME	NA	NA	0.007	SNP								NA				0													151	144	147			NA	NA	5		NA											NA				178152398		2203	4300	6503	SO:0001583	missense			AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131	6940	6940		Zinc fingers, C2H2-type, -	11628	protein-coding gene	gene with protein product		602444		TCF17	NA	9465904	Standard	NM_005649	NM_005649	NA	Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.235G>A	5.37:g.178152398C>T	ENSP00000337122:p.Gly79Ser	NA	Q9UNJ8	37	CCDS4438.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	4.542	0.100574	0.08731	.	.	ENSG00000169131	ENST00000335815;ENST00000520331	T;T	0.06449	3.3;6.03	3.25	0.274	0.15654	Krueppel-associated box (1);	.	.	.	.	T	0.04497	0.0123	L	0.31845	0.965	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48468	-0.9033	9	0.10902	T	0.67	-1.4818	7.6338	0.28255	0.0:0.3221:0.0:0.6779	.	79	O60765	Z354A_HUMAN	S	79	ENSP00000337122:G79S;ENSP00000429675:G79S	ENSP00000337122:G79S	G	-	1	0	ZNF354A	178085004	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.242000	0.02908	-0.220000	0.09988	-1.347000	0.01240	GGT	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253481.1		-	ENST00000335815.2	Missense_Mutation	SNP	5 : 178152398 - 178152398 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1001	169
FAM84A	151354	broad.mit.edu	37	2	14774144	14774144	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:14774144G>T	ENST00000295092.2	+	2	329	c.41G>T	c.(40-42)aGc>aTc	p.S14I	FAM84A_ENST00000331243.4_Missense_Mutation_p.S14I	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	14										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			CTCAACTACAGCGAGTTGCCC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	32	31			NA	NA	2		NA											NA				14774144		2203	4300	6503	SO:0001583	missense			AJ417080, BC026346	CCDS1684.1	2p24.3	2005-08-09			ENSG00000162981	ENSG00000162981	151354	151354			20743	protein-coding gene	gene with protein product	neurological/sensory 1	611234			NA	14702039	Standard	NM_145175	NM_145175	NA	Approved	NSE1, FLJ35392	uc002rbz.2	Q96KN4	OTTHUMG00000119093	ENST00000295092.2:c.41G>T	2.37:g.14774144G>T	ENSP00000295092:p.Ser14Ile	NA	A6NP76|Q86UZ2|Q8NAH7|Q8TAM5	37	CCDS1684.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242236	0.79912	.	.	ENSG00000162981	ENST00000295092;ENST00000331243;ENST00000359969	T;T	0.04119	3.7;3.7	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.14743	0.0356	L	0.38175	1.15	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.01305	-1.1390	10	0.72032	D	0.01	-21.0837	17.3365	0.87282	0.0:0.0:1.0:0.0	.	14	Q96KN4	FA84A_HUMAN	I	14	ENSP00000295092:S14I;ENSP00000330681:S14I	ENSP00000295092:S14I	S	+	2	0	FAM84A	14691595	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.900000	0.63252	2.369000	0.80426	0.655000	0.94253	AGC	FAM84A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239308.2		+	ENST00000295092.2	Missense_Mutation	SNP	2 : 14774144 - 14774144 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	195	26
FNIP2	57600	broad.mit.edu	37	4	159790058	159790058	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159790058T>C	ENST00000264433.6	+	13	2345	c.2270T>C	c.(2269-2271)gTg>gCg	p.V757A	FNIP2_ENST00000379346.3_Missense_Mutation_p.V780A	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	757	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GCTGCTGATGTGGCTCAGGAC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	52	51			NA	NA	4		NA											NA				159790058		1934	4141	6075	SO:0001583	missense			AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795	57600	57600			29280	protein-coding gene	gene with protein product	O6-methylguanine-induced apoptosis 1	612768			NA	18403135	Standard	NM_020840	NM_020840	NA	Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.2270T>C	4.37:g.159790058T>C	ENSP00000264433:p.Val757Ala	NA	Q05DC3|Q96I31|Q9H994	37	CCDS47155.1	.	.	.	.	.	.	.	.	.	.	T	0.493	-0.874454	0.02550	.	.	ENSG00000052795	ENST00000264433;ENST00000379346	T;T	0.21031	2.04;2.03	5.13	-9.77	0.00500	.	3.600100	0.00424	N	0.000068	T	0.09069	0.0224	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16689	-1.0394	9	.	.	.	.	2.5952	0.04852	0.1927:0.3673:0.0982:0.3418	.	757	Q9P278	FNIP2_HUMAN	A	757;780	ENSP00000264433:V757A;ENSP00000368651:V780A	.	V	+	2	0	FNIP2	160009508	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.317000	0.01122	-2.063000	0.00890	-2.451000	0.00208	GTG	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366602.1		+	ENST00000264433.6	Missense_Mutation	SNP	4 : 159790058 - 159790058 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	427	74
LIMA1	51474	broad.mit.edu	37	12	50616055	50616055	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50616055T>C	ENST00000341247.4	-	4	528	c.379A>G	c.(379-381)Aga>Gga	p.R127G	RP3-405J10.4_ENST00000551284.1_RNA|LIMA1_ENST00000552909.1_5'UTR|LIMA1_ENST00000552783.1_5'UTR|LIMA1_ENST00000394943.3_Missense_Mutation_p.R127G|LIMA1_ENST00000552823.1_5'UTR	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	127					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						AGTCTAGATCTGGGGTGGATT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													216	155	176			NA	NA	12		NA											NA				50616055		2203	4300	6503	SO:0001583	missense			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405	51474	51474			24636	protein-coding gene	gene with protein product	epithelial protein lost in neoplasm beta	608364			NA	10806352, 10618726, 12566430	Standard	NM_016357	NM_016357	NA	Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.379A>G	12.37:g.50616055T>C	ENSP00000340184:p.Arg127Gly	NA	B2RB09|Q2TAN7|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	37	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	T	3.781	-0.045713	0.07452	.	.	ENSG00000050405	ENST00000394943;ENST00000341247;ENST00000420992;ENST00000551691	D;T	0.84800	-1.9;-1.16	5.12	-0.174	0.13319	.	0.889113	0.09948	N	0.735058	T	0.78438	0.4283	M	0.62723	1.935	0.21256	N	0.999748	B;B	0.10296	0.003;0.003	B;B	0.08055	0.003;0.002	T	0.61783	-0.6992	10	0.33940	T	0.23	.	2.283	0.04119	0.1209:0.1435:0.366:0.3696	.	136;127	Q59FE8;Q9UHB6	.;LIMA1_HUMAN	G	127;127;46;127	ENSP00000378400:R127G;ENSP00000340184:R127G	ENSP00000340184:R127G	R	-	1	2	LIMA1	48902322	0.055000	0.20627	0.001000	0.08648	0.196000	0.23810	0.210000	0.17455	-0.162000	0.10964	0.533000	0.62120	AGA	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406235.2		-	ENST00000341247.4	Missense_Mutation	SNP	12 : 50616055 - 50616055 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	522	100
AGAP1	116987	broad.mit.edu	37	2	236626223	236626223	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:236626223G>T	ENST00000304032.8	+	3	825	c.245G>T	c.(244-246)aGc>aTc	p.S82I	AGAP1_ENST00000409457.1_Missense_Mutation_p.S82I|AGAP1_ENST00000336665.5_Missense_Mutation_p.S82I|AGAP1_ENST00000409538.1_Missense_Mutation_p.S347I	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	NA	Small GTPase-like.		S -> G (in an autistic patient).		protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AACTTGGCCAGCGGCAAGTCT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	89	91			NA	NA	2		NA											NA				236626223		2203	4300	6503	SO:0001583	missense			AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985	116987	116987		ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing	16922	protein-coding gene	gene with protein product		608651	centaurin, gamma 2	CENTG2	NA		Standard	NM_014914	NM_001037131	NA	Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.245G>T	2.37:g.236626223G>T	ENSP00000307634:p.Ser82Ile	NA	B2RTX7|Q541S5|Q6P9D7|Q9NV93	37	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	G	32	5.182524	0.94885	.	.	ENSG00000157985	ENST00000409457;ENST00000304032;ENST00000336665;ENST00000402604;ENST00000409538	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	5.0	5.0	0.66597	Mitochondrial Rho-like (1);	0.000000	0.85682	D	0.000000	T	0.55800	0.1943	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.62105	-0.6924	10	0.87932	D	0	.	18.7012	0.91620	0.0:0.0:1.0:0.0	.	82;82	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	I	82;82;82;29;347	ENSP00000387174:S82I;ENSP00000307634:S82I;ENSP00000338378:S82I;ENSP00000385492:S29I;ENSP00000386897:S347I	ENSP00000307634:S82I	S	+	2	0	AGAP1	236290962	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.685000	0.98661	2.488000	0.83962	0.655000	0.94253	AGC	AGAP1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257076.2		+	ENST00000304032.8	Missense_Mutation	SNP	2 : 236626223 - 236626223 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	71
ZC3H18	124245	broad.mit.edu	37	16	88690390	88690390	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88690390G>A	ENST00000301011.5	+	11	2018	c.1818G>A	c.(1816-1818)ccG>ccA	p.P606P	ZC3H18_ENST00000452588.2_Silent_p.P630P	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	606	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CTTCGTCCCCGTCCCCGTCCC	0.652		NA											G	1	5e-04	NA	0.0028	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9049	EXOME	NA	NA	4e-04	SNP	Ovarian(121;375 2276 20373 38669)							NA				0													96	88	91			NA	NA	16		NA											NA				88690390		2198	4300	6498	SO:0001819	synonymous_variant			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545	124245	124245		Zinc fingers, CCCH-type domain containing	25091	protein-coding gene	gene with protein product					NA	17579712	Standard	NM_144604	NM_144604	NA	Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1818G>A	16.37:g.88690390G>A		NA	Q96DG4|Q96MP7	37	CCDS10967.1																																																																																			ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269168.1		+	ENST00000301011.5	Silent	SNP	16 : 88690390 - 88690390 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	744	145
ZNF512B	57473	broad.mit.edu	37	20	62594982	62594982	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62594982G>A	ENST00000450537.1	-	10	1747	c.1687C>T	c.(1687-1689)Cac>Tac	p.H563Y	ZNF512B_ENST00000217130.3_Missense_Mutation_p.H563Y|ZNF512B_ENST00000369888.1_Missense_Mutation_p.H563Y			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	563					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TTGGCACTGTGCTCGGCCATA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	94	96			NA	NA	20		NA											NA				62594982		2202	4300	6502	SO:0001583	missense			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700	57473	57473			29212	protein-coding gene	gene with protein product					NA	10574462	Standard	NM_020713	NM_020713	NA	Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.1687C>T	20.37:g.62594982G>A	ENSP00000393795:p.His563Tyr	NA	Q08AK9|Q9ULM4	37	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709041	0.68615	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.37915	1.17;1.17;1.17	4.42	4.42	0.53409	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.134765	0.49305	D	0.000155	T	0.56247	0.1972	M	0.62723	1.935	0.49051	D	0.999748	D	0.71674	0.998	D	0.83275	0.996	T	0.60692	-0.7213	10	0.87932	D	0	-15.5574	13.504	0.61474	0.0:0.1574:0.8426:0.0	.	563	Q96KM6	Z512B_HUMAN	Y	563	ENSP00000358904:H563Y;ENSP00000393795:H563Y;ENSP00000217130:H563Y	ENSP00000217130:H563Y	H	-	1	0	ZNF512B	62065426	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	4.971000	0.63749	2.004000	0.58718	0.411000	0.27672	CAC	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080246.1		-	ENST00000450537.1	Missense_Mutation	SNP	20 : 62594982 - 62594982 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	457	32
JMJD1C	221037	broad.mit.edu	37	10	64975428	64975428	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64975428G>A	ENST00000399262.2	-	6	925	c.707C>T	c.(706-708)tCt>tTt	p.S236F	JMJD1C_ENST00000489372.2_Intron|JMJD1C_ENST00000542921.1_Missense_Mutation_p.S54F|JMJD1C_ENST00000402544.1_Missense_Mutation_p.S17F|JMJD1C_ENST00000399251.1_Missense_Mutation_p.S17F	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	236					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTGAACCATAGAAGGATCGAC	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	52	54			NA	NA	10		NA											NA				64975428		1869	4102	5971	SO:0001583	missense			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988	221037	221037			12313	protein-coding gene	gene with protein product		604503	thyroid hormone receptor interactor 8	TRIP8	NA	7776974	Standard	NM_004241	XM_005269624	NA	Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.707C>T	10.37:g.64975428G>A	ENSP00000382204:p.Ser236Phe	NA	Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	37	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793804	0.70452	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	5.28	4.37	0.52481	.	0.000000	0.64402	U	0.000001	T	0.12178	0.0296	N	0.14661	0.345	0.47245	D	0.999368	B;B	0.23990	0.095;0.067	B;B	0.21917	0.037;0.03	T	0.05937	-1.0855	10	0.46703	T	0.11	-4.9331	15.9854	0.80147	0.0:0.1349:0.8651:0.0	.	236;54	Q15652;A0T124	JHD2C_HUMAN;.	F	236;17;17;54	ENSP00000382204:S236F;ENSP00000384990:S17F;ENSP00000382195:S17F;ENSP00000444682:S54F	ENSP00000382195:S17F	S	-	2	0	JMJD1C	64645434	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	1.218000	0.43458	0.655000	0.94253	TCT	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048249.2		-	ENST00000399262.2	Missense_Mutation	SNP	10 : 64975428 - 64975428 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	164	30
OR6Q1	219952	broad.mit.edu	37	11	57799000	57799000	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57799000G>A	ENST00000302622.3	+	1	599	c.576G>A	c.(574-576)tcG>tcA	p.S192S	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TAGCCTTGTCGTGCTCAGATG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													253	223	233			NA	NA	11		NA											NA				57799000		2201	4296	6497	SO:0001819	synonymous_variant			AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381	219952	219952		GPCR / Class A : Olfactory receptors	15302	protein-coding gene	gene with protein product					NA		Standard	NM_001005186	NM_001005186	NA	Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.576G>A	11.37:g.57799000G>A		NA	B9EKW1|Q6IFH1|Q96R34	37	CCDS31541.1																																																																																			OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401257.1		+	ENST00000302622.3	Silent	SNP	11 : 57799000 - 57799000 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	823	33
CCAR2	57805	broad.mit.edu	37	8	22475262	22475262	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22475262G>T	ENST00000308511.4	+	16	2293	c.2044G>T	c.(2044-2046)Gag>Tag	p.E682*	CCAR2_ENST00000389279.3_Nonsense_Mutation_p.E682*|CCAR2_ENST00000520861.1_Nonsense_Mutation_p.E357*					cell cycle and apoptosis regulator 2	682											NA						AAACCAGTCAGAGATGGAGTT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													189	178	181			NA	NA	8		NA											NA				22475262		2203	4300	6503	SO:0001587	stop_gained			AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941	57805	57805			23360	protein-coding gene	gene with protein product	deleted in breast cancer	607359	KIAA1967	KIAA1967	NA	12370419	Standard	NM_021174	NM_021174	NA	Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.2044G>T	8.37:g.22475262G>T	ENSP00000310670:p.Glu682*	NA		37	CCDS34863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	10.772398|10.772398	0.99465|0.99465	.|.	.|.	ENSG00000158941|ENSG00000158941	ENST00000308511;ENST00000389279;ENST00000520861|ENST00000520738	.|.	.|.	.|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.078963|.	0.53938|.	D|.	0.000056|.	.|T	.|0.71685	.|0.3369	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72587	.|-0.4248	.|3	0.17369|.	T|.	0.5|.	-27.246|-27.246	15.6866|15.6866	0.77415|0.77415	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|H	682;682;357|373	.|.	ENSP00000310670:E682X|.	E|Q	+|+	1|3	0|2	KIAA1967|KIAA1967	22531207|22531207	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.986000|0.986000	0.74619|0.74619	5.207000|5.207000	0.65197|0.65197	2.775000|2.775000	0.95449|0.95449	0.655000|0.655000	0.94253|0.94253	GAG|CAG	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375865.1		+	ENST00000308511.4	Nonsense_Mutation	SNP	8 : 22475262 - 22475262 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	712	101
SENP7	57337	broad.mit.edu	37	3	101047522	101047522	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101047522C>T	ENST00000394095.2	-	21	2816	c.2763G>A	c.(2761-2763)tcG>tcA	p.S921S	SENP7_ENST00000314261.7_Silent_p.S855S|SENP7_ENST00000394094.2_Silent_p.S856S|SENP7_ENST00000394085.3_Silent_p.S109S|SENP7_ENST00000394091.1_Silent_p.S757S|SENP7_ENST00000358203.3_Silent_p.S757S|SENP7_ENST00000348610.3_Silent_p.S888S	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	921	Protease.				proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTGACATATTCGACTCGGTAC	0.274		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	69	69			NA	NA	3		NA											NA				101047522		2203	4293	6496	SO:0001819	synonymous_variant				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468	57337	57337			30402	protein-coding gene	gene with protein product		612846	SUMO1/sentrin specific protease 7		NA	11214970, 11230166	Standard	NM_020654	NM_001282802	NA	Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.2763G>A	3.37:g.101047522C>T		NA	A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	37	CCDS2941.2																																																																																			SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313957.2		-	ENST00000394095.2	Silent	SNP	3 : 101047522 - 101047522 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	138	29
INO80	54617	broad.mit.edu	37	15	41275118	41275118	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41275118G>A	ENST00000361937.3	-	35	4819	c.4395C>T	c.(4393-4395)gcC>gcT	p.A1465A	INO80_ENST00000401393.3_Silent_p.A1465A			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1465	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTGCAGCCCCGGCTTTGGCTC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	51	49			NA	NA	15		NA											NA				41275118		2202	4294	6496	SO:0001819	synonymous_variant			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	54617	54617	3.6.1.3	INO80 complex subunits	26956	protein-coding gene	gene with protein product	INO80 complex subunit A	610169	INO80 complex homolog 1 (S. cerevisiae), INO80 homolog (S. cerevisiae)	INOC1	NA	16298340, 16230350, 20237820	Standard	NM_017553	NM_017553	NA	Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.4395C>T	15.37:g.41275118G>A		NA	A6H8X4|Q9NTG6	37	CCDS10071.1																																																																																			INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252527.2		-	ENST00000361937.3	Silent	SNP	15 : 41275118 - 41275118 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	655	48
FBXO38	81545	broad.mit.edu	37	5	147781654	147781654	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147781654G>A	ENST00000340253.5	+	4	540	c.372G>A	c.(370-372)gaG>gaA	p.E124E	FBXO38_ENST00000296701.6_Silent_p.E124E|FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000513826.1_Silent_p.E124E|FBXO38_ENST00000394370.3_Silent_p.E124E			Q6PIJ6	FBX38_HUMAN	F-box protein 38	124						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGCCATGAGGCTTTTAGCA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	136	138			NA	NA	5		NA											NA				147781654		2203	4299	6502	SO:0001819	synonymous_variant			BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868	81545	81545		F-boxes /  other	28844	protein-coding gene	gene with protein product		608533			NA	12477932	Standard	NM_030793	NM_030793	NA	Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.372G>A	5.37:g.147781654G>A		NA	Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	37																																																																																				FBXO38-002	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000252185.2		+	ENST00000340253.5	Silent	SNP	5 : 147781654 - 147781654 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	652	112
NDC1	55706	broad.mit.edu	37	1	54254859	54254859	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54254859G>A	ENST00000371429.3	-	15	2244	c.1646C>T	c.(1645-1647)gCc>gTc	p.A549V	NDC1_ENST00000540001.1_Silent_p.G512G|NDC1_ENST00000537333.1_Missense_Mutation_p.A214V|NDC1_ENST00000234725.8_Missense_Mutation_p.A434V	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3			NDC1 transmembrane nucleoporin	NA											NA						CTGAATGGAGGCCTCTGGGTG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	39	38			NA	NA	1		NA											NA				54254859		2203	4300	6503	SO:0001583	missense			AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804	55706	55706			25525	protein-coding gene	gene with protein product	nuclear division cycle 1 homolog (S. cerevisiae)	610115	transmembrane protein 48	TMEM48	NA	16779818, 12958361	Standard	NM_018087	NR_033142	NA	Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.1646C>T	1.37:g.54254859G>A	ENSP00000360483:p.Ala549Val	NA		37	CCDS583.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799515	0.50208	.	.	ENSG00000058804	ENST00000371429;ENST00000360494;ENST00000537333;ENST00000234725	T;T;T	0.54071	0.59;0.59;0.59	4.31	4.31	0.51392	.	0.049077	0.85682	D	0.000000	T	0.48241	0.1489	L	0.43923	1.385	0.80722	D	1	P;P	0.41848	0.763;0.763	B;B	0.41510	0.359;0.359	T	0.46133	-0.9213	10	0.30078	T	0.28	.	16.9311	0.86190	0.0:0.0:1.0:0.0	.	509;549	B4DHA3;Q9BTX1	.;NDC1_HUMAN	V	549;432;214;434	ENSP00000360483:A549V;ENSP00000439947:A214V;ENSP00000234725:A434V	ENSP00000234725:A434V	A	-	2	0	TMEM48	54027447	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.190000	0.77755	2.392000	0.81423	0.563000	0.77884	GCC	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022101.1		-	ENST00000371429.3	Missense_Mutation	SNP	1 : 54254859 - 54254859 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	209	42
PAK2	5062	broad.mit.edu	37	3	196509633	196509633	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196509633C>A	ENST00000327134.3	+	2	438	c.116C>A	c.(115-117)cCt>cAt	p.P39H		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	39					axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		AGTTTGAAACCTTTGCCCTCT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	148	145			NA	NA	3		NA											NA				196509633		2203	4300	6503	SO:0001583	missense			U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	5062	5062	2.7.11.1		8591	protein-coding gene	gene with protein product	S6/H4 kinase	605022	p21 (CDKN1A)-activated kinase 2		NA	7744004, 7618083	Standard	NM_002577	NM_002577	NA	Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.116C>A	3.37:g.196509633C>A	ENSP00000314067:p.Pro39His	NA	Q13154|Q6ISC3	37	CCDS3321.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430706	0.83776	.	.	ENSG00000180370	ENST00000327134	T	0.72505	-0.66	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.83403	0.5247	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.85194	0.1011	10	0.87932	D	0	.	18.756	0.91833	0.0:1.0:0.0:0.0	.	39	Q13177	PAK2_HUMAN	H	39	ENSP00000314067:P39H	ENSP00000314067:P39H	P	+	2	0	PAK2	197994030	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.228000	0.78079	2.456000	0.83038	0.655000	0.94253	CCT	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340548.1		+	ENST00000327134.3	Missense_Mutation	SNP	3 : 196509633 - 196509633 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1332	58
MBD2	8932	broad.mit.edu	37	18	51686260	51686260	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51686260G>A	ENST00000256429.3	-	6	1351	c.1123C>T	c.(1123-1125)Cga>Tga	p.R375*	MBD2_ENST00000579025.1_5'UTR	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	375					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	TGCTGTACTCGCTCTTCCTGT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	101	109			NA	NA	18		NA											NA				51686260		2203	4300	6503	SO:0001587	stop_gained			AF072242	CCDS11953.1, CCDS45871.1	18q21	2008-08-01			ENSG00000134046	ENSG00000134046	8932	8932			6917	protein-coding gene	gene with protein product		603547			NA	9774669, 10441743	Standard	NM_003927	NM_003927	NA	Approved		uc002lfg.2	Q9UBB5	OTTHUMG00000132705	ENST00000256429.3:c.1123C>T	18.37:g.51686260G>A	ENSP00000256429:p.Arg375*	NA	O95242|Q9UIS8	37	CCDS11953.1	.	.	.	.	.	.	.	.	.	.	G	39	7.661500	0.98419	.	.	ENSG00000134046	ENST00000256429	.	.	.	5.77	5.77	0.91146	.	0.065090	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.4375	13.7042	0.62627	0.0:0.0:0.8457:0.1543	.	.	.	.	X	375	.	ENSP00000256429:R375X	R	-	1	2	MBD2	49940258	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.862000	0.48388	2.724000	0.93272	0.561000	0.74099	CGA	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256003.2		-	ENST00000256429.3	Nonsense_Mutation	SNP	18 : 51686260 - 51686260 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	318	40
SSH1	54434	broad.mit.edu	37	12	109201572	109201572	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109201572C>T	ENST00000326495.5	-	8	661	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	SSH1_ENST00000551165.1_Missense_Mutation_p.E190K|SSH1_ENST00000326470.5_Missense_Mutation_p.E201K|SSH1_ENST00000360239.3_5'UTR	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	190					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGGGCCACTTCGCAGGCCTTG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	41	40			NA	NA	12		NA											NA				109201572		2203	4300	6503	SO:0001583	missense			BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112	54434	54434		Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots	30579	protein-coding gene	gene with protein product		606778	slingshot homolog 1 (Drosophila)		NA	10718198, 11832213	Standard	NM_018984	NM_018984	NA	Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.568G>A	12.37:g.109201572C>T	ENSP00000315713:p.Glu190Lys	NA	Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	37	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.920053	0.92249	.	.	ENSG00000084112	ENST00000326495;ENST00000551165;ENST00000326470;ENST00000303438	T;T;T	0.37058	1.22;1.22;1.22	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.53077	0.1774	L	0.58583	1.82	0.80722	D	1	P;D;P;P	0.69078	0.87;0.997;0.87;0.906	P;P;B;B	0.59546	0.454;0.859;0.269;0.372	T	0.47182	-0.9137	10	0.36615	T	0.2	-25.9072	18.0508	0.89347	0.0:1.0:0.0:0.0	.	201;94;190;190	Q8WYL5-5;Q8WYL5-3;Q8WYL5-2;Q8WYL5	.;.;.;SSH1_HUMAN	K	190;190;201;94	ENSP00000315713:E190K;ENSP00000448824:E190K;ENSP00000326107:E201K	ENSP00000307610:E94K	E	-	1	0	SSH1	107725701	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	7.747000	0.85070	2.488000	0.83962	0.655000	0.94253	GAA	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403724.1		-	ENST00000326495.5	Missense_Mutation	SNP	12 : 109201572 - 109201572 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	282	57
MUSK	4593	broad.mit.edu	37	9	113538230	113538230	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113538230A>C	ENST00000416899.2	+	9	1473	c.1347A>C	c.(1345-1347)agA>agC	p.R449S	MUSK_ENST00000374438.1_Missense_Mutation_p.T41P|MUSK_ENST00000189978.5_Missense_Mutation_p.R449S|MUSK_ENST00000374448.4_Missense_Mutation_p.R449S			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	449	FZ.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CCTGTGCCAGACTGCCACATC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	130	131			NA	NA	9		NA											NA				113538230		1916	4130	6046	SO:0001583	missense			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304	4593	4593		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	7525	protein-coding gene	gene with protein product		601296			NA	7546737	Standard		NM_005592	NA	Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000416899.2:c.1347A>C	9.37:g.113538230A>C	ENSP00000393608:p.Arg449Ser	NA	Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.10|11.10	1.538820|1.538820	0.27475|0.27475	.|.	.|.	ENSG00000030304|ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899|ENST00000374441;ENST00000374438	T|D	0.74315|0.81739	-0.83|-1.53	5.74|5.74	4.61|4.61	0.57282|0.57282	Frizzled domain (1);|.	0.323968|.	0.36740|.	N|.	0.002427|.	T|T	0.78432|0.78432	0.4282|0.4282	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.75969|0.75969	-0.3130|-0.3130	10|7	0.49607|0.46703	T|T	0.09|0.11	.|.	7.9543|7.9543	0.30033|0.30033	0.8412:0.0:0.1588:0.0|0.8412:0.0:0.1588:0.0	.|.	449|.	O15146|.	MUSK_HUMAN|.	S|P	455;449;449;371;371;455|41	ENSP00000363571:R449S|ENSP00000363561:T41P	ENSP00000189978:R455S|ENSP00000363561:T41P	R|T	+|+	3|1	2|0	MUSK|MUSK	112578051|112578051	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.534000|0.534000	0.34807|0.34807	1.197000|1.197000	0.32211|0.32211	1.009000|1.009000	0.39289|0.39289	0.459000|0.459000	0.35465|0.35465	AGA|ACT	MUSK-002	NOVEL	non_canonical_TEC|not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000053628.2		+	ENST00000416899.2	Missense_Mutation	SNP	9 : 113538230 - 113538230 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	679	127
ADAM18	8749	broad.mit.edu	37	8	39581413	39581413	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39581413G>A	ENST00000265707.5	+	19	2209	c.2164G>A	c.(2164-2166)Gca>Aca	p.A722T	ADAM18_ENST00000379866.1_Missense_Mutation_p.A698T|ADAM18_ENST00000541111.1_Missense_Mutation_p.A136T|ADAM18_ENST00000523755.1_3'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	722					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CAGAGAGAATGCAGAGTATAA	0.279		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0									THR/ALA	1,4403		0,1,2201	86	92	90		2164	-5.6	0	8		90	0,8594		0,0,4297	no	missense	ADAM18	NM_014237.2	58	0,1,6498	AA,AG,GG	NA	0.0,0.0227,0.0077	benign	722/740	39581413	1,12997	2202	4297	6499	SO:0001583	missense			AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619	8749	8749		ADAM metallopeptidase domain containing	196	protein-coding gene	gene with protein product			a disintegrin and metalloproteinase domain 18		NA	12200459	Standard	NM_014237	NM_014237	NA	Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.2164G>A	8.37:g.39581413G>A	ENSP00000265707:p.Ala722Thr	NA	B2R9Y0|Q0VAI4|Q6UXJ9	37	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	g	4.491	0.091009	0.08632	2.27E-4	0.0	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000541111	D;D;D	0.93859	-3.3;-3.3;-3.3	4.7	-5.63	0.02474	.	1.710450	0.03277	N	0.185673	T	0.79730	0.4496	N	0.04994	-0.135	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.09377	0.004;0.002	T	0.72207	-0.4360	10	0.15499	T	0.54	.	1.4074	0.02283	0.2341:0.1267:0.3875:0.2518	.	698;722	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	T	722;698;136	ENSP00000265707:A722T;ENSP00000369195:A698T;ENSP00000444729:A136T	ENSP00000265707:A722T	A	+	1	0	ADAM18	39700570	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.137000	0.03219	-0.649000	0.05430	-0.442000	0.05670	GCA	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376916.1		+	ENST00000265707.5	Missense_Mutation	SNP	8 : 39581413 - 39581413 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	57
DMC1	11144	broad.mit.edu	37	22	38933650	38933650	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38933650G>A	ENST00000216024.2	-	12	1059	c.783C>T	c.(781-783)aaC>aaT	p.N261N	DMC1_ENST00000428462.2_Silent_p.N206N	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	261					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					AAACAGCCACGTTATATTCTG	0.318		NA						Homologous recombination						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	76	75			NA	NA	22		NA											NA				38933650		2203	4300	6503	SO:0001819	synonymous_variant			D63882	CCDS13973.1, CCDS63477.1	22q13.1	2013-05-02	2013-05-02		ENSG00000100206	ENSG00000100206	11144	11144			2927	protein-coding gene	gene with protein product		602721	DMC1 (dosage suppressor of mck1, yeast homolog) meiosis-specific homologous recombination, DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)		NA	8602360, 8590282, 17541404	Standard	NM_007068	NM_007068	NA	Approved	LIM15	uc003avz.2	Q14565	OTTHUMG00000151088	ENST00000216024.2:c.783C>T	22.37:g.38933650G>A		NA	A8K9A2|Q08AI1|Q99498|Q9UH11	37	CCDS13973.1																																																																																			DMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321246.2		-	ENST00000216024.2	Silent	SNP	22 : 38933650 - 38933650 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	413	73
CDADC1	81602	broad.mit.edu	37	13	49852631	49852631	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49852631C>T	ENST00000251108.6	+	7	1309	c.1196C>T	c.(1195-1197)gCg>gTg	p.A399V	CDADC1_ENST00000444959.1_Missense_Mutation_p.A201V	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	399							hydrolase activity|zinc ion binding	p.A399E(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		ATCATACATGCGGAACAGAAT	0.353		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)											235	205	215			NA	NA	13		NA											NA				49852631		2203	4300	6503	SO:0001583	missense			AY027525	CCDS9415.1	13q14.11	2008-02-05			ENSG00000102543	ENSG00000102543	81602	81602			20299	protein-coding gene	gene with protein product					NA		Standard	NM_030911	NM_001193478	NA	Approved	NYD-SP15	uc001vcu.3	Q9BWV3	OTTHUMG00000016913	ENST00000251108.6:c.1196C>T	13.37:g.49852631C>T	ENSP00000251108:p.Ala399Val	NA	Q49A08|Q4G119|Q5TAW9|Q7Z764|Q9NT36	37	CCDS9415.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681073	0.88542	.	.	ENSG00000102543	ENST00000251108;ENST00000444959	T;T	0.74737	-0.87;-0.87	5.62	4.78	0.61160	APOBEC/CMP deaminase, zinc-binding (1);Cytidine deaminase-like (1);CMP/dCMP deaminase, zinc-binding (1);	0.000000	0.85682	D	0.000000	D	0.88403	0.6427	H	0.96333	3.805	0.54753	D	0.999986	D	0.63880	0.993	P	0.58172	0.834	D	0.91630	0.5318	10	0.87932	D	0	-8.5006	13.5488	0.61719	0.0:0.9251:0.0:0.0749	.	399	Q9BWV3	CDAC1_HUMAN	V	399;201	ENSP00000251108:A399V;ENSP00000407226:A201V	ENSP00000251108:A399V	A	+	2	0	CDADC1	48750632	1.000000	0.71417	0.374000	0.26016	0.842000	0.47809	7.101000	0.76997	1.370000	0.46153	0.650000	0.86243	GCG	CDADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044902.2		+	ENST00000251108.6	Missense_Mutation	SNP	13 : 49852631 - 49852631 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	700	109
CAMK2D	817	broad.mit.edu	37	4	114430832	114430832	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114430832C>A	ENST00000394524.3	-	13	1323		c.e13-1		CAMK2D_ENST00000394526.2_Splice_Site|CAMK2D_ENST00000296402.5_Splice_Site|CAMK2D_ENST00000429180.1_Splice_Site|CAMK2D_ENST00000515496.1_Splice_Site|CAMK2D_ENST00000514328.1_Intron|CAMK2D_ENST00000511664.1_Splice_Site|CAMK2D_ENST00000454265.2_Splice_Site|CAMK2D_ENST00000508738.1_Splice_Site|CAMK2D_ENST00000342666.5_Splice_Site|CAMK2D_ENST00000379773.2_Splice_Site|CAMK2D_ENST00000418639.2_Splice_Site|CAMK2D_ENST00000394522.3_Splice_Site|CAMK2D_ENST00000505990.1_Splice_Site			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	NA					interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		CTCTTGGCTGCTGTAAAATGA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	106	107			NA	NA	4		NA											NA				114430832		2203	4300	6503	SO:0001630	splice_region_variant			U50361	CCDS3703.1, CCDS3704.1, CCDS43263.1, CCDS47127.1, CCDS54797.1	4q26	2008-10-30	2008-10-30		ENSG00000145349	ENSG00000145349	817	817			1462	protein-coding gene	gene with protein product		607708	calcium/calmodulin-dependent protein kinase (CaM kinase) II delta	CAMKD	NA		Standard		NM_001221	NA	Approved		uc003ibi.3	Q13557	OTTHUMG00000132910	ENST00000394524.3:c.947-1G>T	4.37:g.114430832C>A		NA	A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	37	CCDS43263.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027771	0.75390	.	.	ENSG00000145349	ENST00000394524;ENST00000454265;ENST00000429180;ENST00000418639;ENST00000394526;ENST00000296402;ENST00000513132;ENST00000511664;ENST00000342666;ENST00000515496;ENST00000394522;ENST00000505990;ENST00000379773;ENST00000508738	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CAMK2D	114650281	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.102000	0.64572	2.882000	0.98803	0.655000	0.94253	.	CAMK2D-001	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256418.1	Intron	-	ENST00000394524.3	Splice_Site	SNP	4 : 114430832 - 114430832 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	268	24
FOXB2	442425	broad.mit.edu	37	9	79635075	79635075	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79635075C>T	ENST00000376708.1	+	1	505	c.505C>T	c.(505-507)Ccg>Tcg	p.P169S		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	169	Poly-Pro.				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue 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			breast(1)|lung(8)|ovary(1)	10						gccgccgccgccgcccccgcc	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													3	6	5			NA	NA	9		NA											NA				79635075		1149	2759	3908	SO:0001583	missense				CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612	442425	442425		Forkhead boxes	23315	protein-coding gene	gene with protein product					NA		Standard	NM_001013735	NM_001013735	NA	Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.505C>T	9.37:g.79635075C>T	ENSP00000365898:p.Pro169Ser	NA		37	CCDS35045.1	.	.	.	.	.	.	.	.	.	.	C	8.575	0.881054	0.17467	.	.	ENSG00000204612	ENST00000376708	T	0.47869	0.83	3.04	3.04	0.35103	.	1.888570	0.02789	N	0.121804	T	0.29749	0.0743	N	0.08118	0	0.35303	D	0.78321	.	.	.	.	.	.	T	0.25606	-1.0127	8	0.06365	T	0.9	.	11.8789	0.52562	0.0:1.0:0.0:0.0	.	169	Q5VYV0	FOXB2_HUMAN	S	169	ENSP00000365898:P169S	ENSP00000365898:P169S	P	+	1	0	FOXB2	78824895	0.000000	0.05858	0.983000	0.44433	0.875000	0.50365	-0.005000	0.12855	1.417000	0.47077	0.313000	0.20887	CCG	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052745.1		+	ENST00000376708.1	Missense_Mutation	SNP	9 : 79635075 - 79635075 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	104	18
TICRR	90381	broad.mit.edu	37	15	90167307	90167307	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90167307G>A	ENST00000268138.7	+	20	3871	c.3766G>A	c.(3766-3768)Gcc>Acc	p.A1256T	TICRR_ENST00000560985.1_Missense_Mutation_p.A1255T|KIF7_ENST00000558928.1_Intron					TOPBP1-interacting checkpoint and replication regulator	NA											NA						GAGAGCAGCAGCCTTCATGGG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	69	68			NA	NA	15		NA											NA				90167307		2200	4299	6499	SO:0001583	missense			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534	90381	90381			28704	protein-coding gene	gene with protein product	TOPBP1-interacting replication-stimulating protein, SLD3 homolog (S. cerevisiae)	613298	chromosome 15 open reading frame 42	C15orf42	NA	20116089, 20080954	Standard	NM_152259	NM_152259	NA	Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.3766G>A	15.37:g.90167307G>A	ENSP00000268138:p.Ala1256Thr	NA		37	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790919	0.50102	.	.	ENSG00000140534	ENST00000268138	T	0.09073	3.02	4.67	3.74	0.42951	.	0.609497	0.14882	N	0.292881	T	0.07593	0.0191	L	0.27053	0.805	0.19300	N	0.999974	P	0.40731	0.728	B	0.43623	0.425	T	0.31194	-0.9952	10	0.27082	T	0.32	-2.3019	7.968	0.30111	0.0:0.2655:0.5219:0.2126	.	1256	Q7Z2Z1	TICRR_HUMAN	T	1256	ENSP00000268138:A1256T	ENSP00000268138:A1256T	A	+	1	0	C15orf42	87968311	0.002000	0.14202	0.241000	0.24154	0.056000	0.15407	0.687000	0.25407	0.915000	0.36847	0.655000	0.94253	GCC	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000312856.1		+	ENST00000268138.7	Missense_Mutation	SNP	15 : 90167307 - 90167307 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	679	133
HOXA3	3200	broad.mit.edu	37	7	27150148	27150148	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27150148C>T	ENST00000396352.4	-	2	311	c.112G>A	c.(112-114)Gct>Act	p.A38T	HOXA3_ENST00000317201.2_Missense_Mutation_p.A38T|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	38					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GCGCCCAAAGCGGCGGACGCC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(136;1368 1743 5685 7935 50360)							NA				0													20	18	19			NA	NA	7		NA											NA				27150148		2114	4177	6291	SO:0001583	missense				CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997	3200	3200		Homeoboxes / ANTP class : HOXL subclass	5104	protein-coding gene	gene with protein product		142954	homeo box A3	HOX1E, HOX1	NA	1973146, 1358459	Standard		XM_005249730	NA	Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.112G>A	7.37:g.27150148C>T	ENSP00000379640:p.Ala38Thr	NA	A4D181	37	CCDS5404.1	.	.	.	.	.	.	.	.	.	.	C	6.951	0.545224	0.13312	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000522788;ENST00000522456	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.49	2.64	0.31445	.	0.473046	0.22978	N	0.053349	T	0.20292	0.0488	N	0.14661	0.345	0.22896	N	0.998599	B	0.02656	0.0	B	0.04013	0.001	T	0.27536	-1.0071	10	0.02654	T	1	.	2.7398	0.05250	0.2519:0.4799:0.1226:0.1456	.	38	O43365	HXA3_HUMAN	T	38	ENSP00000379640:A38T;ENSP00000324884:A38T;ENSP00000429426:A38T;ENSP00000430566:A38T	ENSP00000324884:A38T	A	-	1	0	HOXA3	27116673	0.533000	0.26354	0.023000	0.16930	0.672000	0.39443	0.930000	0.28858	0.264000	0.21851	0.462000	0.41574	GCT	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358708.2		-	ENST00000396352.4	Missense_Mutation	SNP	7 : 27150148 - 27150148 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	190	32
ZNF629	23361	broad.mit.edu	37	16	30794890	30794890	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30794890C>T	ENST00000262525.4	-	3	966	c.759G>A	c.(757-759)caG>caA	p.Q253Q		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			TGTGGGATCGCTGGTGCTTGA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	101	100			NA	NA	16		NA											NA				30794890		2196	4300	6496	SO:0001819	synonymous_variant			AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870	23361	23361		Zinc fingers, C2H2-type	29008	protein-coding gene	gene with protein product			zinc finger protein 65	ZNF65	NA	9205841	Standard	NM_015309	NM_001080417	NA	Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.759G>A	16.37:g.30794890C>T		NA	Q15938	37	CCDS45463.1																																																																																			ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434291.1		-	ENST00000262525.4	Silent	SNP	16 : 30794890 - 30794890 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	448	99
CYP4F2	8529	broad.mit.edu	37	19	15990189	15990189	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15990189G>T	ENST00000221700.6	-	12	1459	c.1364C>A	c.(1363-1365)cCt>cAt	p.P455H		NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	NA					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AAAAGCCAGAGGTGACCTCTC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	154	153			NA	NA	19		NA											NA				15990189		2203	4300	6503	SO:0001583	missense			U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115	8529	8529		Cytochrome P450s	2645	protein-coding gene	gene with protein product		604426	cytochrome P450, subfamily IVF, polypeptide 2		NA	8424651, 8026587	Standard	NM_001082	NM_001082	NA	Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.1364C>A	19.37:g.15990189G>T	ENSP00000221700:p.Pro455His	NA	A8K425|Q16677|Q6NWT4|Q6NWT6|Q9NNZ0|Q9UIU8	37	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	g	18.92	3.726074	0.69074	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	T	0.69435	-0.4	3.05	3.05	0.35203	.	0.180087	0.37136	U	0.002226	D	0.82861	0.5129	M	0.90595	3.13	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.86234	0.1639	10	0.87932	D	0	.	11.868	0.52505	0.0:0.0:1.0:0.0	.	455	P78329	CP4F2_HUMAN	H	455;306	ENSP00000221700:P455H	ENSP00000221700:P455H	P	-	2	0	CYP4F2	15851189	1.000000	0.71417	0.932000	0.37286	0.947000	0.59692	8.266000	0.89871	1.677000	0.50941	0.491000	0.48974	CCT	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460372.3		-	ENST00000221700.6	Missense_Mutation	SNP	19 : 15990189 - 15990189 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1028	211
RAB36	9609	broad.mit.edu	37	22	23495220	23495220	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:23495220G>A	ENST00000263116.2	+	5	466	c.426G>A	c.(424-426)agG>agA	p.R142R	RAB36_ENST00000341989.4_Splice_Site_p.G120G	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	142					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		TCCCCCACAGGTTTTGCAAGA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	156	158			NA	NA	22		NA											NA				23495220		2203	4300	6503	SO:0001630	splice_region_variant			AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228	9609	9609		RAB, member RAS oncogene	9775	protein-coding gene	gene with protein product		605662			NA	9920784, 10591208	Standard	NM_004914	NM_004914	NA	Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.426-1G>A	22.37:g.23495220G>A		NA	Q2M390|Q7Z4A9|Q9UHP5	37	CCDS13805.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822898	0.50739	.	.	ENSG00000100228	ENST00000420895	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	T	0.61751	0.2372	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59139	-0.7510	4	.	.	.	.	10.4969	0.44783	0.0886:0.0:0.9114:0.0	.	.	.	.	I	37	.	.	V	+	1	0	RAB36	21825220	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	3.501000	0.53325	2.709000	0.92574	0.563000	0.77884	GTT	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319046.1	Silent	+	ENST00000263116.2	Splice_Site	SNP	22 : 23495220 - 23495220 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	581	130
KIF2B	84643	broad.mit.edu	37	17	51901392	51901392	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:51901392C>T	ENST00000268919.4	+	1	1154	c.998C>T	c.(997-999)gCa>gTa	p.A333V		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	333	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCTCTGGTGGCACAGGATGTC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	109	109			NA	NA	17		NA											NA				51901392		2203	4300	6503	SO:0001583	missense			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200	84643	84643		Kinesins	29443	protein-coding gene	gene with protein product		615142			NA	11416179	Standard	NM_032559	NM_032559	NA	Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.998C>T	17.37:g.51901392C>T	ENSP00000268919:p.Ala333Val	NA	Q96MA2|Q9BXG6	37	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042862	0.75732	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.73363	-0.74	5.63	5.63	0.86233	Kinesin, motor domain (4);	0.115539	0.38326	N	0.001727	T	0.69151	0.3079	L	0.28608	0.87	0.54753	D	0.999983	P	0.37207	0.587	B	0.41174	0.349	T	0.71328	-0.4626	10	0.56958	D	0.05	.	16.7672	0.85527	0.0:1.0:0.0:0.0	.	333	Q8N4N8	KIF2B_HUMAN	V	333;221	ENSP00000268919:A333V	ENSP00000268919:A333V	A	+	2	0	KIF2B	49256391	0.998000	0.40836	0.303000	0.25071	0.629000	0.37895	3.740000	0.55082	2.798000	0.96311	0.655000	0.94253	GCA	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438854.1		+	ENST00000268919.4	Missense_Mutation	SNP	17 : 51901392 - 51901392 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	597	106
CHDC2	286464	broad.mit.edu	37	X	36083821	36083821	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:36083821G>A	ENST00000313548.4	+	2	190	c.4G>A	c.(4-6)Gca>Aca	p.A2T		NM_173695.2	NP_775966.1			calponin homology domain containing 2	NA											NA						CCCATATATGGCAATTCATCT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	66	70			NA	NA	X		NA											NA				36083821		2201	4297	6498	SO:0001583	missense			AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034	286464	286464			26708	protein-coding gene	gene with protein product			chromosome X open reading frame 59	CXorf59	NA		Standard	NM_173695	NM_173695	NA	Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.4G>A	X.37:g.36083821G>A	ENSP00000324767:p.Ala2Thr	NA		37	CCDS14238.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.88|12.88	2.071943|2.071943	0.36566|0.36566	.|.	.|.	ENSG00000176034|ENSG00000176034	ENST00000378660;ENST00000313548|ENST00000449698;ENST00000397458	.|.	.|.	.|.	4.83|4.83	4.83|4.83	0.62350|0.62350	.|.	0.200102|.	0.24818|.	N|.	0.035360|.	T|.	0.38480|.	0.1042|.	N|N	0.19112|0.19112	0.55|0.55	0.24486|0.24486	N|N	0.994329|0.994329	D|.	0.89917|.	1.0|.	D|.	0.80764|.	0.994|.	T|.	0.40270|.	-0.9572|.	9|.	0.87932|0.87932	D|D	0|0	-7.1406|-7.1406	14.5859|14.5859	0.68322|0.68322	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2|.	Q8N9S7|.	CX059_HUMAN|.	T|X	2|146	.|.	ENSP00000324767:A2T|ENSP00000380599:W146X	A|W	+|+	1|3	0|0	CXorf59|CXorf59	35993742|35993742	1.000000|1.000000	0.71417|0.71417	0.499000|0.499000	0.27577|0.27577	0.457000|0.457000	0.32468|0.32468	4.584000|4.584000	0.60971|0.60971	2.113000|2.113000	0.64589|0.64589	0.600000|0.600000	0.82982|0.82982	GCA|TGG	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding			+	ENST00000313548.4	Missense_Mutation	SNP	X : 36083821 - 36083821 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	138	28
ABCB4	5244	broad.mit.edu	37	7	87056075	87056075	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87056075G>A	ENST00000265723.4	-	16	2166	c.2055C>T	c.(2053-2055)acC>acT	p.T685T	ABCB4_ENST00000358400.3_Silent_p.T685T|ABCB4_ENST00000545634.1_Silent_p.T685T|ABCB4_ENST00000453593.1_Silent_p.T685T|ABCB4_ENST00000359206.3_Silent_p.T685T	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	685					cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CAAGTCCATCGGTTTCCACAT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	94	94			NA	NA	7		NA											NA				87056075		2202	4300	6502	SO:0001819	synonymous_variant			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471	5244	5244		ATP binding cassette transporters / subfamily B	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3	NA	2892668, 11313316	Standard	NM_000443	NM_018850	NA	Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.2055C>T	7.37:g.87056075G>A		NA	A0A2V7|A4D1D3|A4D1D4|D6W5P3|D6W5P4|Q14813	37	CCDS5606.1																																																																																			ABCB4-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336083.1		-	ENST00000265723.4	Silent	SNP	7 : 87056075 - 87056075 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	380	87
PML	5371	broad.mit.edu	37	15	74325728	74325728	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74325728C>T	ENST00000565898.1	+	5	1570	c.1486C>T	c.(1486-1488)Cac>Tac	p.H496Y	PML_ENST00000359928.4_Intron|PML_ENST00000569965.1_Missense_Mutation_p.H544Y|PML_ENST00000395135.3_Missense_Mutation_p.H544Y|PML_ENST00000395132.2_Intron|PML_ENST00000268059.6_Missense_Mutation_p.H544Y|PML_ENST00000563500.1_Missense_Mutation_p.H496Y|PML_ENST00000569477.1_Missense_Mutation_p.H544Y|PML_ENST00000567543.1_Intron|PML_ENST00000354026.6_Missense_Mutation_p.H496Y|PML_ENST00000268058.3_Missense_Mutation_p.H544Y|PML_ENST00000435786.2_Missense_Mutation_p.H544Y|PML_ENST00000436891.3_Missense_Mutation_p.H544Y|PML_ENST00000564428.1_Missense_Mutation_p.H496Y			P29590	PML_HUMAN	promyelocytic leukemia	544					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CAACAGCAACCACGTGGCCAG	0.667		NA	T	RARA, PAX5	APL, ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0													47	47	47			NA	NA	15		NA											NA				74325728		2198	4297	6495	SO:0001583	missense			AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464	5371	5371		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	9113	protein-coding gene	gene with protein product		102578			NA		Standard	NM_002675	NM_033244	NA	Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000565898.1:c.1486C>T	15.37:g.74325728C>T	ENSP00000455838:p.His496Tyr	NA	P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	37		.	.	.	.	.	.	.	.	.	.	C	17.91	3.505103	0.64410	.	.	ENSG00000140464	ENST00000395135;ENST00000435786;ENST00000436891;ENST00000268058;ENST00000268059;ENST00000354026;ENST00000417341;ENST00000418568	T	0.47869	0.83	4.81	3.83	0.44106	.	3.797720	0.00397	N	0.000054	T	0.65502	0.2697	M	0.61703	1.905	0.31687	N	0.64232	B;P;P;P;P;D;D;B;B;D	0.62365	0.003;0.917;0.952;0.952;0.952;0.991;0.986;0.01;0.003;0.986	B;P;B;P;P;P;P;B;B;P	0.59115	0.004;0.472;0.439;0.536;0.536;0.852;0.536;0.006;0.004;0.842	T	0.53472	-0.8434	10	0.59425	D	0.04	-32.366	10.8648	0.46849	0.1874:0.8126:0.0:0.0	.	544;544;496;496;544;496;544;544;544;499	P29590-3;P29590;P29590-11;P29590-12;P29590-5;P29590-13;P29590-4;P29590-2;P29590-8;Q59H09	.;PML_HUMAN;.;.;.;.;.;.;.;.	Y	544;544;544;544;544;496;105;544	ENSP00000268058:H544Y	ENSP00000268058:H544Y	H	+	1	0	PML	72112781	0.733000	0.28132	0.918000	0.36340	0.060000	0.15804	1.853000	0.39358	2.386000	0.81285	0.549000	0.68633	CAC	PML-005	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000421816.1		+	ENST00000565898.1	Missense_Mutation	SNP	15 : 74325728 - 74325728 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	447	68
TULP4	56995	broad.mit.edu	37	6	158735144	158735144	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158735144G>A	ENST00000367097.3	+	1	1453	c.96G>A	c.(94-96)gaG>gaA	p.E32E	TULP4_ENST00000367094.2_Silent_p.E32E	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	32					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GTGAGAAGGAGAAGCCTGTGT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	81	86			NA	NA	6		NA											NA				158735144		2203	4300	6503	SO:0001819	synonymous_variant				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338	56995	56995		WD repeat domain containing	15530	protein-coding gene	gene with protein product					NA	11595174	Standard	NM_020245	NM_020245	NA	Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.96G>A	6.37:g.158735144G>A		NA	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	37	CCDS34561.1																																																																																			TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042869.1		+	ENST00000367097.3	Silent	SNP	6 : 158735144 - 158735144 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	59
RFX2	5990	broad.mit.edu	37	19	6042117	6042117	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6042117G>A	ENST00000303657.5	-	4	347	c.198C>T	c.(196-198)caC>caT	p.H66H	RFX2_ENST00000592546.1_Silent_p.H66H|RFX2_ENST00000359161.3_Silent_p.H66H	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	66					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CAGGATACACGTGCTGCACCG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(38;171 817 19800 47433 48051)							NA				0													136	100	112			NA	NA	19		NA											NA				6042117		2203	4300	6503	SO:0001819	synonymous_variant				CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903	5990	5990			9983	protein-coding gene	gene with protein product	trans-acting regulatory factor 2, DNA binding protein RFX2, HLA class II regulatory factor RFX2	142765			NA	1505960	Standard	NM_000635	NM_000635	NA	Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.198C>T	19.37:g.6042117G>A		NA	A8K581|B3KNC4|Q6IQ44|Q8SNA2	37	CCDS12157.1																																																																																			RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452687.1		-	ENST00000303657.5	Silent	SNP	19 : 6042117 - 6042117 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	546	34
OR5M11	219487	broad.mit.edu	37	11	56310088	56310088	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56310088A>G	ENST00000528616.2	-	1	669	c.646T>C	c.(646-648)Tcc>Ccc	p.S216P		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						AAGGCATAGGACACCAAGACG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	74	74			NA	NA	11		NA											NA				56310088		2065	4230	6295	SO:0001583	missense			AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223	219487	219487		GPCR / Class A : Olfactory receptors	15291	protein-coding gene	gene with protein product					NA		Standard	NM_001005245	NM_001005245	NA	Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.646T>C	11.37:g.56310088A>G	ENSP00000432417:p.Ser216Pro	NA	B2RNL5|B2RNL7	37	CCDS53629.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.877410	0.51801	.	.	ENSG00000255223	ENST00000528616	T	0.46819	0.86	4.85	3.69	0.42338	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.75072	0.3800	H	0.95402	3.665	0.32543	N	0.533459	D	0.89917	1.0	D	0.81914	0.995	T	0.82295	-0.0528	9	0.87932	D	0	.	9.9357	0.41550	0.8476:0.0:0.0:0.1524	.	216	Q96RB7	OR5MB_HUMAN	P	216	ENSP00000432417:S216P	ENSP00000432417:S216P	S	-	1	0	OR5M11	56066664	0.974000	0.33945	1.000000	0.80357	0.781000	0.44180	3.158000	0.50723	0.868000	0.35678	0.514000	0.50259	TCC	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391608.1		-	ENST00000528616.2	Missense_Mutation	SNP	11 : 56310088 - 56310088 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	305	58
MIER3	166968	broad.mit.edu	37	5	56224611	56224611	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56224611G>A	ENST00000409421.1	-	8	861	c.718C>T	c.(718-720)Ctt>Ttt	p.L240F	MIER3_ENST00000381226.3_Missense_Mutation_p.L308F|CTD-2310F14.1_ENST00000606813.1_RNA|MIER3_ENST00000381199.3_Missense_Mutation_p.L303F|MIER3_ENST00000381213.3_Missense_Mutation_p.L302F			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	303	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		TTCTGTATAAGATGAAAATCT	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	71	71			NA	NA	5		NA											NA				56224611		2203	4299	6502	SO:0001583	missense			BX537798	CCDS3973.2, CCDS75248.1	5q11.2	2009-03-19			ENSG00000155545	ENSG00000155545	166968	166968			26678	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152622	XM_005248448	NA	Approved	FLJ35954, DKFZp686L09111, DKFZp781I1119	uc003jra.1	Q7Z3K6	OTTHUMG00000059589	ENST00000409421.1:c.718C>T	5.37:g.56224611G>A	ENSP00000386584:p.Leu240Phe	NA	B4DRI9|B8ZZQ0|Q5CZI0|Q68CS3|Q6MZS7|Q86YG8|Q8NA13	37		.	.	.	.	.	.	.	.	.	.	G	24.8	4.569239	0.86439	.	.	ENSG00000155545	ENST00000381226;ENST00000381213;ENST00000381199;ENST00000409421	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.64	5.64	0.86602	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.110123	0.64402	D	0.000006	T	0.65144	0.2663	M	0.71036	2.16	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.985	P;D;P	0.67548	0.905;0.952;0.863	T	0.65940	-0.6046	10	0.59425	D	0.04	-10.7073	19.6987	0.96043	0.0:0.0:1.0:0.0	.	303;308;302	Q7Z3K6;Q7Z3K6-2;Q7Z3K6-3	MIER3_HUMAN;.;.	F	308;302;303;240	ENSP00000370624:L308F;ENSP00000370611:L302F;ENSP00000370596:L303F;ENSP00000386584:L240F	ENSP00000370596:L303F	L	-	1	0	MIER3	56260368	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.018000	0.64054	2.647000	0.89833	0.467000	0.42956	CTT	MIER3-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000132524.3		-	ENST00000409421.1	Missense_Mutation	SNP	5 : 56224611 - 56224611 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	305	53
WNT9A	7483	broad.mit.edu	37	1	228109546	228109546	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228109546G>T	ENST00000272164.5	-	4	781	c.771C>A	c.(769-771)acC>acA	p.T257T		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	257					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				CAGCTTCATTGGTGGTGCTGC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	55	55			NA	NA	1		NA											NA				228109546		2203	4300	6503	SO:0001819	synonymous_variant			AB060283	CCDS31045.1	1q42	2008-02-05	2003-03-11	2003-03-14	ENSG00000143816	ENSG00000143816	7483	7483		Wingless-type MMTV integration sites	12778	protein-coding gene	gene with protein product		602863	wingless-type MMTV integration site family, member 14	WNT14	NA	9441749	Standard	NM_003395	NM_003395	NA	Approved		uc001hri.2	O14904	OTTHUMG00000037592	ENST00000272164.5:c.771C>A	1.37:g.228109546G>T		NA	A6NLW2|Q2M2J3|Q5VWU0|Q96S50	37	CCDS31045.1																																																																																			WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091646.1		-	ENST00000272164.5	Silent	SNP	1 : 228109546 - 228109546 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	640	52
DSE	29940	broad.mit.edu	37	6	116747782	116747782	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116747782C>T	ENST00000331677.3	+	4	906	c.462C>T	c.(460-462)tcC>tcT	p.S154S	DSE_ENST00000606265.1_3'UTR|DSE_ENST00000359564.2_Silent_p.S154S|DSE_ENST00000537543.1_Silent_p.S173S|DSE_ENST00000452085.3_Silent_p.S154S			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	154					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TTGCTCACTCCCTGGTTGGTT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	99	102			NA	NA	6		NA											NA				116747782		2203	4300	6503	SO:0001819	synonymous_variant			AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	29940	29940	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	squamous cell carcinoma antigen recognized by T cells 2	SART2	NA	11920522, 16505484	Standard	NM_013352	NM_001080976	NA	Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.462C>T	6.37:g.116747782C>T		NA	Q5R3K6	37	CCDS5107.1																																																																																			DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041940.2		+	ENST00000331677.3	Silent	SNP	6 : 116747782 - 116747782 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	541	102
MAN2A2	4122	broad.mit.edu	37	15	91461902	91461902	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91461902G>A	ENST00000559717.1	+	22	3676	c.3217G>A	c.(3217-3219)Gca>Aca	p.A1073T	MAN2A2_ENST00000360468.3_Missense_Mutation_p.A1073T|MAN2A2_ENST00000558538.1_3'UTR|MAN2A2_ENST00000431652.2_Missense_Mutation_p.A581T|MAN2A2_ENST00000430376.2_Missense_Mutation_p.A263T			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	1073					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGCGGAGACCGCACTCATCTT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	41	44			NA	NA	15		NA											NA				91461902		2198	4298	6496	SO:0001583	missense			L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547	4122	4122			6825	protein-coding gene	gene with protein product		600988			NA	8524845	Standard	NM_006122	NM_006122	NA	Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.3217G>A	15.37:g.91461902G>A	ENSP00000452948:p.Ala1073Thr	NA	A6NH12|A8K1E8|Q13754	37	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	G	35	5.528441	0.96446	.	.	ENSG00000196547	ENST00000360468;ENST00000431652;ENST00000430376	D;D;D	0.83673	-1.75;-1.75;-1.75	5.95	5.95	0.96441	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.92293	0.7555	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.989;0.995;0.997	D	0.91919	0.5546	10	0.59425	D	0.04	-17.2714	20.458	0.99154	0.0:0.0:1.0:0.0	.	581;701;1073	B4DEU9;B4DIK4;P49641	.;.;MA2A2_HUMAN	T	1073;581;263	ENSP00000353655:A1073T;ENSP00000388221:A581T;ENSP00000394372:A263T	ENSP00000353655:A1073T	A	+	1	0	MAN2A2	89262906	1.000000	0.71417	0.206000	0.23566	0.062000	0.15995	7.414000	0.80117	2.835000	0.97688	0.650000	0.86243	GCA	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418246.5		+	ENST00000559717.1	Missense_Mutation	SNP	15 : 91461902 - 91461902 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	199	27
CACNA1B	774	broad.mit.edu	37	9	141012423	141012423	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:141012423G>T	ENST00000371372.1	+	43	5948	c.5803G>T	c.(5803-5805)Gag>Tag	p.E1935*	CACNA1B_ENST00000277549.5_Nonsense_Mutation_p.E1129*|CACNA1B_ENST00000277551.2_Nonsense_Mutation_p.E1935*|CACNA1B_ENST00000371355.4_Nonsense_Mutation_p.E1936*|CACNA1B_ENST00000371363.1_Nonsense_Mutation_p.E1933*|CACNA1B_ENST00000371357.1_Nonsense_Mutation_p.E1934*	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1935					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGGCATCAAAGAGTCTGTCTC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	28	27			NA	NA	9		NA											NA				141012423		1911	4131	6042	SO:0001587	stop_gained			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408	774	774		Calcium channel subunits, Voltage-gated ion channels / Calcium channels, EF-hand domain containing	1389	protein-coding gene	gene with protein product		601012		CACNL1A5	NA	8825650, 16382099	Standard	NM_000718	NM_000718	NA	Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.5803G>T	9.37:g.141012423G>T	ENSP00000360423:p.Glu1935*	NA	B1AQK5	37	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	56	26.658571	0.99969	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	.	.	.	3.94	3.94	0.45596	.	25.295300	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	13.9521	0.64123	0.0:0.0:1.0:0.0	.	.	.	.	X	1935;1935;1129;1933;1934;1936	.	ENSP00000277549:E1129X	E	+	1	0	CACNA1B	140132244	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.342000	0.65970	2.036000	0.60181	0.561000	0.74099	GAG	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055380.1		+	ENST00000371372.1	Nonsense_Mutation	SNP	9 : 141012423 - 141012423 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	75	9
ARHGEF28	64283	broad.mit.edu	37	5	73154028	73154028	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:73154028G>T	ENST00000426542.2	+	15	2051	c.2031G>T	c.(2029-2031)gaG>gaT	p.E677D	ARHGEF28_ENST00000287898.5_Missense_Mutation_p.E677D|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.E677D|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.E364D|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.E677D|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.E677D|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.E677D					Rho guanine nucleotide exchange factor (GEF) 28	NA											NA						TGGGGAAAGAGTCACTGCAGT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													213	209	211			NA	NA	5		NA											NA				73154028		1902	4132	6034	SO:0001583	missense				CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944	64283	64283			30322	protein-coding gene	gene with protein product		612790			NA	9199174, 11058585	Standard		NM_001177693	NA	Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.2031G>T	5.37:g.73154028G>T	ENSP00000412175:p.Glu677Asp	NA		37	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.481684	0.26598	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799	D;D;D;D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11;-3.11;-3.11;-3.11	5.35	2.35	0.29111	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	.	.	.	.	D	0.82379	0.5024	N	0.21142	0.635	0.29604	N	0.847437	B;B;B;B	0.31503	0.326;0.176;0.011;0.009	B;B;B;B	0.32864	0.154;0.078;0.101;0.036	T	0.72747	-0.4200	9	0.08381	T	0.77	.	6.2498	0.20839	0.2183:0.0:0.6475:0.1342	.	364;677;677;677	B5MDA3;Q8N1W1;E9PC75;Q8N1W1-4	.;RGNEF_HUMAN;.;.	D	677;677;677;677;677;677;364	ENSP00000296794:E677D;ENSP00000441913:E677D;ENSP00000441436:E677D;ENSP00000287898:E677D;ENSP00000411459:E677D;ENSP00000412175:E677D;ENSP00000296799:E364D	ENSP00000287898:E677D	E	+	3	2	RP11-428C6.1	73189784	0.998000	0.40836	1.000000	0.80357	0.757000	0.42996	0.377000	0.20552	1.261000	0.44149	0.563000	0.77884	GAG	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368975.1		+	ENST00000426542.2	Missense_Mutation	SNP	5 : 73154028 - 73154028 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	960	153
PAPPA2	60676	broad.mit.edu	37	1	176760572	176760572	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176760572A>G	ENST00000367662.3	+	19	6138	c.4974A>G	c.(4972-4974)tcA>tcG	p.S1658S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1658	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CACCCCCCTCAGAGCTGAATT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	84	85			NA	NA	1		NA											NA				176760572		1896	4105	6001	SO:0001819	synonymous_variant			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183	60676	60676			14615	protein-coding gene	gene with protein product			placenta-specific 3	PLAC3	NA	11018262, 11264294	Standard		NM_021936	NA	Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4974A>G	1.37:g.176760572A>G		NA	Q96PH7|Q96PH8|Q9H4C9	37	CCDS41438.1																																																																																			PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084763.1		+	ENST00000367662.3	Silent	SNP	1 : 176760572 - 176760572 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	427	82
CCDC8	83987	broad.mit.edu	37	19	46915898	46915898	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46915898C>T	ENST00000307522.3	-	1	943	c.170G>A	c.(169-171)cGc>cAc	p.R57H		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	57						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		ctccatgatgcgggccacgtc	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	50	48			NA	NA	19		NA											NA				46915898		2203	4300	6503	SO:0001583	missense			BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515	83987	83987		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	25367	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 20	614145			NA	11230166	Standard	NM_032040	NM_032040	NA	Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.170G>A	19.37:g.46915898C>T	ENSP00000303158:p.Arg57His	NA	Q8TB26	37	CCDS12685.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.460660	0.63513	.	.	ENSG00000169515	ENST00000307522;ENST00000540252	T	0.14022	2.54	4.42	2.31	0.28768	.	0.000000	0.40908	D	0.000990	T	0.10508	0.0257	M	0.64997	1.995	0.09310	N	0.999998	P	0.51653	0.947	B	0.35813	0.211	T	0.26985	-1.0087	10	0.37606	T	0.19	-7.8103	6.0197	0.19623	0.0:0.7715:0.0:0.2285	.	57	Q9H0W5	CCDC8_HUMAN	H	57	ENSP00000303158:R57H	ENSP00000303158:R57H	R	-	2	0	CCDC8	51607738	0.996000	0.38824	0.406000	0.26421	0.959000	0.62525	1.658000	0.37376	1.164000	0.42652	-0.237000	0.12165	CGC	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368598.1		-	ENST00000307522.3	Missense_Mutation	SNP	19 : 46915898 - 46915898 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	508	88
ZBTB38	253461	broad.mit.edu	37	3	141163088	141163088	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141163088G>T	ENST00000514251.1	+	4	2137	c.1858G>T	c.(1858-1860)Gat>Tat	p.D620Y	ZBTB38_ENST00000321464.5_Missense_Mutation_p.D621Y|ZBTB38_ENST00000441582.2_Missense_Mutation_p.D620Y			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	620					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GAATTTCCAAGATACTGTAAA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	84	84			NA	NA	3		NA											NA				141163088		1986	4179	6165	SO:0001583	missense			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311	253461	253461		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	26636	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 171	612218			NA	12477932	Standard		NM_001080412	NA	Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.1858G>T	3.37:g.141163088G>T	ENSP00000426387:p.Asp620Tyr	NA	D3DNF6	37	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.146053	0.37923	.	.	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464	T;T;T;T	0.09163	3.47;3.01;3.01;3.01	5.55	2.76	0.32466	.	0.461992	0.22355	N	0.061147	T	0.08044	0.0201	L	0.44542	1.39	0.09310	N	1	B;B	0.29805	0.257;0.257	B;B	0.23419	0.046;0.046	T	0.32161	-0.9917	9	.	.	.	-4.1212	6.2002	0.20571	0.2194:0.3343:0.4463:0.0	.	621;620	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	Y	620;620;620;621	ENSP00000424254:D620Y;ENSP00000426387:D620Y;ENSP00000406955:D620Y;ENSP00000372635:D621Y	.	D	+	1	0	ZBTB38	142645778	0.026000	0.19158	0.000000	0.03702	0.001000	0.01503	1.371000	0.34250	0.292000	0.22492	-0.898000	0.02899	GAT	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359329.2		+	ENST00000514251.1	Missense_Mutation	SNP	3 : 141163088 - 141163088 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	537	86
DOCK10	55619	broad.mit.edu	37	2	225637950	225637950	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:225637950A>C	ENST00000409592.3	-	53	6223	c.6110T>G	c.(6109-6111)cTt>cGt	p.L2037R	DOCK10_ENST00000258390.7_Missense_Mutation_p.L2043R			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2043	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AAGCTGATTAAGCTCAGAAAC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	127	128			NA	NA	2		NA											NA				225637950		2125	4252	6377	SO:0001583	missense			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905	55619	55619		Pleckstrin homology (PH) domain containing	23479	protein-coding gene	gene with protein product	zizimin3	611518			NA	12432077	Standard		NM_014689	NA	Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000409592.3:c.6110T>G	2.37:g.225637950A>C	ENSP00000386694:p.Leu2037Arg	NA	O75178|Q9NW06|Q9NXI8	37		.	.	.	.	.	.	.	.	.	.	A	26.3	4.722240	0.89298	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.39592	1.07;1.07	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.72906	0.3519	M	0.92317	3.295	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.998;0.996;0.999	T	0.80625	-0.1299	10	0.87932	D	0	.	15.87	0.79108	1.0:0.0:0.0:0.0	.	2043;2037;705	Q96BY6;B3FL70;B4DEY4	DOC10_HUMAN;.;.	R	2037;2043;550	ENSP00000386694:L2037R;ENSP00000258390:L2043R	ENSP00000258390:L2043R	L	-	2	0	DOCK10	225346194	1.000000	0.71417	0.975000	0.42487	0.993000	0.82548	8.962000	0.93254	2.145000	0.66743	0.533000	0.62120	CTT	DOCK10-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000331158.2		-	ENST00000409592.3	Missense_Mutation	SNP	2 : 225637950 - 225637950 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	239	54
NR2F1	7025	broad.mit.edu	37	5	92923924	92923924	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:92923924C>A	ENST00000327111.3	+	2	2452	c.765C>A	c.(763-765)acC>acA	p.T255T		NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	255					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)		TACGCCTCACCTGGAGCGAGC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	67	68			NA	NA	5		NA											NA				92923924		2203	4300	6503	SO:0001819	synonymous_variant			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.765C>A	5.37:g.92923924C>A		NA		37	CCDS4068.1																																																																																			NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239293.2		+	ENST00000327111.3	Silent	SNP	5 : 92923924 - 92923924 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	509	95
PPP5D1	100506012	broad.mit.edu	37	19	47028947	47028947	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47028947C>T	ENST00000414155.1	-	3	560	c.330G>A	c.(328-330)aaG>aaA	p.K110K						PPP5 tetratricopeptide repeat domain containing 1	NA											NA						GGTGCAGTTTCTTCTGGTCCT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001819	synonymous_variant					19q13.32	2013-01-11	2012-07-20		ENSG00000230510	ENSG00000230510	100506012	100506012		Tetratricopeptide (TTC) repeat domain containing	44209	protein-coding gene	gene with protein product					NA		Standard	NM_001205281	NM_001205281	NA	Approved		uc021uwg.1	E7EU14		ENST00000414155.1:c.330G>A	19.37:g.47028947C>T		NA		37																																																																																				PPP5D1-001	PUTATIVE	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000466560.1		-	ENST00000414155.1	Silent	SNP	19 : 47028947 - 47028947 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	140	19
TBX20	57057	broad.mit.edu	37	7	35293166	35293166	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:35293166C>T	ENST00000408931.3	-	1	592	c.66G>A	c.(64-66)gcG>gcA	p.A22A		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	22						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						TCGACATGAGCGCGGCAATGG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	44	44			NA	NA	7		NA											NA				35293166		2203	4300	6503	SO:0001819	synonymous_variant			AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532	57057	57057		T-boxes	11598	protein-coding gene	gene with protein product		606061			NA	10936053	Standard	NM_020417	NM_001077653	NA	Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.66G>A	7.37:g.35293166C>T		NA	A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	37	CCDS43568.1																																																																																			TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216870.2		-	ENST00000408931.3	Silent	SNP	7 : 35293166 - 35293166 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	221	39
CFP	5199	broad.mit.edu	37	X	47487033	47487033	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47487033G>A	ENST00000396992.3	-	4	531	c.411C>T	c.(409-411)ggC>ggT	p.G137G	CFP_ENST00000377005.2_Silent_p.G137G|CFP_ENST00000247153.3_Silent_p.G137G	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	137	TSP type-1 2.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						CAGACCAGCCGCCCATCTCTG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	12	12			NA	NA	X		NA											NA				47487033		2197	4282	6479	SO:0001819	synonymous_variant			M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759	5199	5199		Complement system	8864	protein-coding gene	gene with protein product		300383	properdin P factor, complement	PFC	NA	1783405	Standard	NM_002621	NM_001145252	NA	Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.411C>T	X.37:g.47487033G>A		NA	O15134|O15135|O15136|O75826	37	CCDS14282.1																																																																																			CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056435.2		-	ENST00000396992.3	Silent	SNP	X : 47487033 - 47487033 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	71	14
EXT1	2131	broad.mit.edu	37	8	118812091	118812091	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:118812091G>A	ENST00000378204.2	-	11	2907	c.2101C>T	c.(2101-2103)Cga>Tga	p.R701*		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	701					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CAGCTCTGTCGCTGGGCAAAG	0.537		NA	Mis, N, F, S			exostoses, osteosarcoma			Langer-Giedion syndrome;Hereditary Multiple Exostoses					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	0			GRCh37	CM010236	EXT1	M							72	68	69			NA	NA	8		NA											NA				118812091		2203	4300	6503	SO:0001587	stop_gained	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2131	2131	2.4.1.224, 2.4.1.225	Exostosin glycosyltransferase family	3512	protein-coding gene	gene with protein product	Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase, N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase	608177	Langer-Giedion syndrome chromosome region, exostoses (multiple) 1, exostosin 1	LGCR, LGS	NA		Standard	NM_000127	NM_000127	NA	Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.2101C>T	8.37:g.118812091G>A	ENSP00000367446:p.Arg701*	NA	B2R7V2|Q9BVI9	37	CCDS6324.1	.	.	.	.	.	.	.	.	.	.	G	45	11.435230	0.99560	.	.	ENSG00000182197	ENST00000378204	.	.	.	5.96	5.02	0.67125	.	0.056834	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.0602	14.3793	0.66900	0.0:0.0:0.7492:0.2508	.	.	.	.	X	701	.	ENSP00000367446:R701X	R	-	1	2	EXT1	118881272	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	3.565000	0.53798	2.832000	0.97577	0.655000	0.94253	CGA	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132768.3		-	ENST00000378204.2	Nonsense_Mutation	SNP	8 : 118812091 - 118812091 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	59
DOCK5	80005	broad.mit.edu	37	8	25246651	25246651	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25246651G>A	ENST00000276440.7	+	41	4220	c.4176G>A	c.(4174-4176)gaG>gaA	p.E1392E		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1392	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGAGGCGAGAGGACTTCAGCC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(145;34 1887 3271 10937 30165)							NA				0													122	106	112			NA	NA	8		NA											NA				25246651		2203	4300	6503	SO:0001819	synonymous_variant				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459	80005	80005			23476	protein-coding gene	gene with protein product					NA	12432077	Standard	NM_024940	NM_024940	NA	Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.4176G>A	8.37:g.25246651G>A		NA	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	37	CCDS6047.1																																																																																			DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254955.2		+	ENST00000276440.7	Silent	SNP	8 : 25246651 - 25246651 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	327	71
STXBP1	6812	broad.mit.edu	37	9	130425614	130425614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130425614C>T	ENST00000373302.3	+	7	699	c.560C>T	c.(559-561)cCg>cTg	p.P187L	STXBP1_ENST00000373299.1_Missense_Mutation_p.P187L	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	187					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						AAGGAGTACCCGGCTGTGCGG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	74	76			NA	NA	9		NA											NA				130425614		2203	4300	6503	SO:0001583	missense			AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854	6812	6812			11444	protein-coding gene	gene with protein product	syntaxin-binding protein 1	602926			NA	9545644	Standard	NM_003165	NM_001032221	NA	Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373302.3:c.560C>T	9.37:g.130425614C>T	ENSP00000362399:p.Pro187Leu	NA	B1AM97|Q28208|Q62759|Q64320|Q96TG8	37	CCDS6874.1	.	.	.	.	.	.	.	.	.	.	C	31	5.105039	0.94245	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000373299	D;D	0.90004	-2.6;-2.6	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.96706	0.8925	H	0.97214	3.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97898	1.0301	10	0.87932	D	0	2.0289	17.2139	0.86937	0.0:1.0:0.0:0.0	.	187;187	P61764;P61764-2	STXB1_HUMAN;.	L	141;187;187	ENSP00000362399:P187L;ENSP00000362396:P187L	ENSP00000362396:P187L	P	+	2	0	STXBP1	129465435	1.000000	0.71417	0.963000	0.40424	0.932000	0.56968	7.661000	0.83786	2.661000	0.90470	0.561000	0.74099	CCG	STXBP1-001	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054228.1		+	ENST00000373302.3	Missense_Mutation	SNP	9 : 130425614 - 130425614 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	618	117
ZSWIM2	151112	broad.mit.edu	37	2	187694554	187694554	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:187694554G>A	ENST00000295131.2	-	8	1034	c.995C>T	c.(994-996)aCt>aTt	p.T332I		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	332					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ACTATTCTTAGTAATCAGTTG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													195	183	187			NA	NA	2		NA											NA				187694554		2203	4300	6503	SO:0001583	missense			AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012	151112	151112		Zinc fingers, SWIM-type, Zinc fingers, ZZ-type	30990	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_182521	NM_182521	NA	Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.995C>T	2.37:g.187694554G>A	ENSP00000295131:p.Thr332Ile	NA	B3KXV6|Q53SI3|Q57ZY3	37	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717424	0.68844	.	.	ENSG00000163012	ENST00000295131	T	0.67523	-0.27	5.74	5.74	0.90152	.	0.000000	0.56097	D	0.000026	T	0.71710	0.3372	L	0.47190	1.495	0.34588	D	0.715199	D	0.67145	0.996	P	0.56612	0.802	T	0.79766	-0.1665	10	0.72032	D	0.01	-15.1682	13.4258	0.61024	0.0:0.1572:0.8428:0.0	.	332	Q8NEG5	ZSWM2_HUMAN	I	332	ENSP00000295131:T332I	ENSP00000295131:T332I	T	-	2	0	ZSWIM2	187402799	1.000000	0.71417	0.620000	0.29132	0.859000	0.49053	4.432000	0.59922	2.873000	0.98535	0.563000	0.77884	ACT	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334565.1		-	ENST00000295131.2	Missense_Mutation	SNP	2 : 187694554 - 187694554 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	651	119
MUC4	4585	broad.mit.edu	37	3	195515849	195515849	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195515849C>T	ENST00000463781.3	-	2	3061	c.2602G>A	c.(2602-2604)Gtc>Atc	p.V868I	MUC4_ENST00000475231.1_Missense_Mutation_p.V868I|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	873	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGCCGGGGACGATCGAAGAC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0									ILE/VAL,,	0,4186		0,0,2093	62	66	65		2602,,	-2.4	0	3		65	1,8383		0,1,4191	no	missense,intron,intron	MUC4	NM_018406.6,NM_004532.5,NM_138297.4	29,,	0,1,6284	TT,TC,CC	NA	0.0119,0.0,0.0080	possibly-damaging,,	868/5413,,	195515849	1,12569	2093	4192	6285	SO:0001583	missense			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113	4585	4585		Mucins	7514	protein-coding gene	gene with protein product		158372	mucin 4, tracheobronchial		NA	1673336	Standard	NM_018406	NM_004532	NA	Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.2602G>A	3.37:g.195515849C>T	ENSP00000417498:p.Val868Ile	NA	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	7.090	0.572023	0.13623	0.0	1.19E-4	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.43294	0.95;0.97	2.78	-2.37	0.06643	.	7.098020	0.00166	N	0.000007	T	0.16896	0.0406	N	0.08118	0	0.09310	N	1	P;B	0.35011	0.48;0.313	B;B	0.21151	0.033;0.011	T	0.04413	-1.0953	10	0.38643	T	0.18	-0.0129	0.5162	0.00604	0.1795:0.2872:0.1764:0.3569	.	868;873	E7ESK3;Q99102	.;MUC4_HUMAN	I	868;868;842	ENSP00000417498:V868I;ENSP00000420243:V868I	ENSP00000376209:V842I	V	-	1	0	MUC4	197000244	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-3.563000	0.00430	-0.661000	0.05345	0.579000	0.79373	GTC	MUC4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324081.6		-	ENST00000463781.3	Missense_Mutation	SNP	3 : 195515849 - 195515849 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	169	26
PCNXL4	64430	broad.mit.edu	37	14	60591214	60591214	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60591214G>A	ENST00000406854.1	+	9	2879	c.2325G>A	c.(2323-2325)agG>agA	p.R775R	PCNXL4_ENST00000406949.1_Silent_p.R541R|PCNXL4_ENST00000317623.4_Silent_p.R541R|PCNXL4_ENST00000535349.1_5'UTR|PCNXL4_ENST00000404681.2_Silent_p.R775R					pecanex-like 4 (Drosophila)	NA											NA						GCTCCAAAAGGCCTGGCATGA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	105	103			NA	NA	14		NA											NA				60591214		2203	4300	6503	SO:0001819	synonymous_variant			AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773	64430	64430			20349	protein-coding gene	gene with protein product			chromosome 14 open reading frame 135	C14orf135	NA		Standard	NM_022495	NM_022495	NA	Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.2325G>A	14.37:g.60591214G>A		NA		37																																																																																				PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000317847.1		+	ENST00000406854.1	Silent	SNP	14 : 60591214 - 60591214 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	599	119
PNPLA7	375775	broad.mit.edu	37	9	140361890	140361890	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140361890G>A	ENST00000277531.4	-	25	3029	c.2843C>T	c.(2842-2844)gCg>gTg	p.A948V	PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000406427.1_Missense_Mutation_p.A973V|PNPLA7_ENST00000371457.1_Missense_Mutation_p.A554V	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	948	Patatin.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCCGCACTCCGCCAAGGCCTT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	72	77			NA	NA	9		NA											NA				140361890		2203	4299	6502	SO:0001583	missense			AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653	375775	375775		Patatin-like phospholipase domain containing	24768	protein-coding gene	gene with protein product		612122	chromosome 9 open reading frame 111	C9orf111	NA	16799181, 12640454, 19029121	Standard	NM_152286	XM_005266082	NA	Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.2843C>T	9.37:g.140361890G>A	ENSP00000277531:p.Ala948Val	NA	B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	37	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	6.765	0.510093	0.12883	.	.	ENSG00000130653	ENST00000371457;ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	5.41	3.23	0.37069	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	1.200670	0.05642	N	0.583553	T	0.67021	0.2849	N	0.25380	0.74	0.09310	N	1	B;B;B;B	0.21071	0.051;0.009;0.004;0.0	B;B;B;B	0.18561	0.022;0.006;0.004;0.002	T	0.55780	-0.8087	10	0.51188	T	0.08	-3.1521	6.744	0.23451	0.3414:0.0:0.6586:0.0	.	356;973;948;214	E2QRF8;Q6ZV29-5;Q6ZV29;B3KXH5	.;.;PLPL7_HUMAN;.	V	554;356;948;973;948;939	ENSP00000360512:A554V;ENSP00000360501:A356V;ENSP00000277531:A948V;ENSP00000384610:A973V;ENSP00000400582:A939V	ENSP00000277531:A948V	A	-	2	0	PNPLA7	139481711	0.000000	0.05858	0.033000	0.17914	0.004000	0.04260	-0.060000	0.11712	1.279000	0.44446	0.561000	0.74099	GCG	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254787.1		-	ENST00000277531.4	Missense_Mutation	SNP	9 : 140361890 - 140361890 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	421	18
HAPLN1	1404	broad.mit.edu	37	5	82937350	82937350	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82937350G>A	ENST00000274341.4	-	5	1880	c.1030C>T	c.(1030-1032)Ctg>Ttg	p.L344L		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	344	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		ACACCATACAGCTTATGCTTT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	153	149			NA	NA	5		NA											NA				82937350		2203	4300	6503	SO:0001819	synonymous_variant				CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681	1404	1404		Immunoglobulin superfamily / V-set domain containing	2380	protein-coding gene	gene with protein product	Cartilage link protein, hyaluronan and proteoglycan link protein 1	115435	cartilage linking protein 1	CRTL1	NA	2286376, 2320422	Standard	NM_001884	NM_001884	NA	Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.1030C>T	5.37:g.82937350G>A		NA	B2R9A9	37	CCDS4061.1																																																																																			HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239256.2		-	ENST00000274341.4	Silent	SNP	5 : 82937350 - 82937350 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1030	165
MGAT5	4249	broad.mit.edu	37	2	135199477	135199477	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:135199477A>G	ENST00000409645.1	+	16	2270	c.2018A>G	c.(2017-2019)gAc>gGc	p.D673G	MGAT5_ENST00000281923.2_Missense_Mutation_p.D673G			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	673					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		AAGGACAAGGACATGCTGAAG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	69	69			NA	NA	2		NA											NA				135199477		2203	4300	6503	SO:0001583	missense			D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	4249	4249	2.4.1.155	Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases	7049	protein-coding gene	gene with protein product		601774			NA	8292036	Standard	NM_002410	NM_002410	NA	Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.2018A>G	2.37:g.135199477A>G	ENSP00000386377:p.Asp673Gly	NA	D3DP70	37	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	A	12.17	1.858795	0.32884	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.19	5.19	0.71726	.	0.130520	0.64402	D	0.000002	T	0.50137	0.1598	L	0.40543	1.245	0.80722	D	1	B	0.33612	0.419	B	0.38500	0.275	T	0.44636	-0.9315	9	0.22109	T	0.4	-27.4264	12.0579	0.53546	0.8464:0.1536:0.0:0.0	.	673	Q09328	MGT5A_HUMAN	G	673	.	ENSP00000281923:D673G	D	+	2	0	MGAT5	134915947	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	6.997000	0.76270	2.179000	0.69175	0.459000	0.35465	GAC	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254584.3		+	ENST00000409645.1	Missense_Mutation	SNP	2 : 135199477 - 135199477 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	638	56
PDP1	54704	broad.mit.edu	37	8	94935883	94935883	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:94935883G>A	ENST00000297598.4	+	2	1865	c.1596G>A	c.(1594-1596)gcG>gcA	p.A532A	PDP1_ENST00000396200.3_Silent_p.A557A|PDP1_ENST00000517764.1_Silent_p.A532A|PDP1_ENST00000520728.1_Silent_p.A532A	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	532					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TTGTAGGGGCGTATCAAAACC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	76	76			NA	NA	8		NA											NA				94935883		2203	4300	6503	SO:0001819	synonymous_variant			AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	54704	54704	3.1.3.43	Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent	9279	protein-coding gene	gene with protein product		605993	protein phosphatase 2C, magnesium-dependent, catalytic subunit	PPM2C	NA	8396421	Standard	NM_018444	NM_001161779	NA	Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.1596G>A	8.37:g.94935883G>A		NA	B3KX71|Q5U5K1	37	CCDS6259.1																																																																																			PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378415.2		+	ENST00000297598.4	Silent	SNP	8 : 94935883 - 94935883 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	483	81
LMBRD2	92255	broad.mit.edu	37	5	36141208	36141208	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36141208C>T	ENST00000296603.4	-	4	831		c.e4+1			NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	NA						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGTAACTTACCATGTTAAAA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	64	65			NA	NA	5		NA											NA				36141208		2203	4300	6503	SO:0001630	splice_region_variant				CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187	92255	92255			25287	protein-coding gene	gene with protein product					NA		Standard	NM_001007527	NM_001007527	NA	Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.368+1G>A	5.37:g.36141208C>T		NA	B3KRB6|Q9NTC7	37	CCDS34145.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315342	0.81358	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0895	0.93221	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LMBRD2	36176965	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.350000	0.79385	2.491000	0.84063	0.650000	0.86243	.	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367552.1	Intron	-	ENST00000296603.4	Splice_Site	SNP	5 : 36141208 - 36141208 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	299	49
DNAH1	25981	broad.mit.edu	37	3	52360312	52360312	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52360312G>A	ENST00000420323.2	+	4	824	c.563G>A	c.(562-564)cGc>cAc	p.R188H		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	188	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGCATCCTCGCAAGATTGAG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	38	37			NA	NA	3		NA											NA				52360312		2077	4205	6282	SO:0001583	missense			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841	25981	25981		Axonemal dyneins	2940	protein-coding gene	gene with protein product		603332	dynein, axonemal, heavy polypeptide 1		NA	8812413, 9256245	Standard	NM_015512	NM_015512	NA	Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.563G>A	3.37:g.52360312G>A	ENSP00000401514:p.Arg188His	NA	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	34	5.381376	0.95945	.	.	ENSG00000114841	ENST00000420323	T	0.42131	0.98	5.92	5.92	0.95590	.	0.000000	0.49916	D	0.000133	T	0.67088	0.2856	M	0.69823	2.125	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.67608	-0.5627	10	0.87932	D	0	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	188;188	C9JXH6;Q9P2D7-3	.;.	H	188	ENSP00000401514:R188H	ENSP00000401514:R188H	R	+	2	0	DNAH1	52335352	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.608000	0.90895	2.813000	0.96785	0.561000	0.74099	CGC	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350816.1		+	ENST00000420323.2	Missense_Mutation	SNP	3 : 52360312 - 52360312 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	145	11
STAB1	23166	broad.mit.edu	37	3	52556948	52556948	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52556948G>A	ENST00000321725.6	+	62	6978	c.6902G>A	c.(6901-6903)cGt>cAt	p.R2301H		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2301	Link.				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)		TACTGCTTCCGTGTGCAAGGT	0.602		NA											g	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	2e-04	SNP								NA				0													80	84	83			NA	NA	3		NA											NA				52556948		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.6902G>A	3.37:g.52556948G>A	ENSP00000312946:p.Arg2301His	NA	A7E297|Q8IUH0|Q8IUH1|Q93072	37	CCDS33768.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	24.1	4.496293	0.85069	.	.	ENSG00000010327	ENST00000321725	T	0.31769	1.48	5.64	5.64	0.86602	C-type lectin fold (1);Link (2);C-type lectin-like (1);FAS1 domain (1);	0.000000	0.85682	D	0.000000	T	0.62865	0.2463	M	0.86178	2.8	0.49687	D	0.999818	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	T	0.67461	-0.5665	10	0.72032	D	0.01	.	19.3071	0.94167	0.0:0.0:1.0:0.0	.	188;2301	B3KSK0;Q9NY15	.;STAB1_HUMAN	H	2301	ENSP00000312946:R2301H	ENSP00000312946:R2301H	R	+	2	0	STAB1	52531988	1.000000	0.71417	0.957000	0.39632	0.783000	0.44284	5.696000	0.68287	2.661000	0.90470	0.486000	0.48141	CGT	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351380.2		+	ENST00000321725.6	Missense_Mutation	SNP	3 : 52556948 - 52556948 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	522	84
NID1	4811	broad.mit.edu	37	1	236157030	236157030	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236157030G>A	ENST00000264187.6	-	13	2752	c.2670C>T	c.(2668-2670)caC>caT	p.H890H	NID1_ENST00000366595.3_Silent_p.H757H	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	890	Thyroglobulin type-1.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CGGTGCTGCCGTGGCACTGGG	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	25	25			NA	NA	1		NA											NA				236157030		2202	4299	6501	SO:0001819	synonymous_variant			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962	4811	4811			7821	protein-coding gene	gene with protein product		131390	nidogen (enactin)	NID	NA	2471408, 7557988	Standard	NM_002508	NM_002508	NA	Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2670C>T	1.37:g.236157030G>A		NA	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	37	CCDS1608.1																																																																																			NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096647.2		-	ENST00000264187.6	Silent	SNP	1 : 236157030 - 236157030 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	186	51
SLC17A8	246213	broad.mit.edu	37	12	100797876	100797876	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100797876C>T	ENST00000323346.5	+	9	1427	c.1114C>T	c.(1114-1116)Caa>Taa	p.Q372*	SLC17A8_ENST00000392989.3_Nonsense_Mutation_p.Q322*	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	372					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TATTGGAGGACAATTGGCTGA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	116	117			NA	NA	12		NA											NA				100797876		2203	4300	6503	SO:0001587	stop_gained			AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520	246213	246213		Solute carriers	20151	protein-coding gene	gene with protein product	vesicular glutamate transporter 3	607557	deafness, autosomal dominant 25, solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8	DFNA25	NA	12151341	Standard	NM_139319	NM_139319	NA	Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1114C>T	12.37:g.100797876C>T	ENSP00000316909:p.Gln372*	NA	B3KXZ6|B7ZKV4|Q17RQ8	37	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	C	37	6.261472	0.97421	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	19.6772	0.95941	0.0:1.0:0.0:0.0	.	.	.	.	X	372;322	.	ENSP00000316909:Q372X	Q	+	1	0	SLC17A8	99322007	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	7.762000	0.85270	2.653000	0.90120	0.557000	0.71058	CAA	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408673.2		+	ENST00000323346.5	Nonsense_Mutation	SNP	12 : 100797876 - 100797876 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	67
AXDND1	126859	broad.mit.edu	37	1	179503899	179503899	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179503899A>C	ENST00000367618.3	+	25	3220	c.2833A>C	c.(2833-2835)Aag>Cag	p.K945Q		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	945	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GGCAGAGGAGAAGTTTGAAGA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	70	70			NA	NA	1		NA											NA				179503899		2203	4300	6503	SO:0001583	missense			BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779	126859	126859			26564	protein-coding gene	gene with protein product			chromosome 1 open reading frame 125	C1orf125	NA	14702039	Standard	NM_144696	NM_144696	NA	Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2833A>C	1.37:g.179503899A>C	ENSP00000356590:p.Lys945Gln	NA	Q6AWB2|Q96LJ3|Q96M01	37	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	A	9.378	1.072270	0.20147	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.33216	1.42;1.42	4.89	4.89	0.63831	.	0.667620	0.13957	N	0.351140	T	0.28532	0.0706	N	0.24115	0.695	0.80722	D	1	D;D	0.54047	0.964;0.964	P;P	0.47981	0.563;0.563	T	0.03175	-1.1064	10	0.52906	T	0.07	-8.6421	12.2781	0.54749	1.0:0.0:0.0:0.0	.	829;945	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	Q	945;829;805	ENSP00000356590:K945Q;ENSP00000391716:K805Q	ENSP00000353471:K829Q	K	+	1	0	AXDND1	177770522	0.859000	0.29813	0.988000	0.46212	0.610000	0.37248	2.321000	0.43805	2.179000	0.69175	0.482000	0.46254	AAG	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085312.1		+	ENST00000367618.3	Missense_Mutation	SNP	1 : 179503899 - 179503899 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	488	93
BSG	682	broad.mit.edu	37	19	578071	578071	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:578071C>T	ENST00000333511.3	+	2	435	c.365C>T	c.(364-366)gCg>gTg	p.A122V	BSG_ENST00000574970.1_3'UTR|BSG_ENST00000545507.2_Intron|BSG_ENST00000353555.4_Intron|BSG_ENST00000346916.4_Intron	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	122					blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGACCCGGGCGCCCAGGGTC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270	682	682		CD molecules, Blood group antigens, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	1116	protein-coding gene	gene with protein product	Ok blood group	109480	basigin	OK	NA	8404035, 7812975	Standard	NM_001728	NM_198591	NA	Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.365C>T	19.37:g.578071C>T	ENSP00000333769:p.Ala122Val	NA	Q7Z796|Q8IZL7	37	CCDS12033.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018309	0.35606	.	.	ENSG00000172270	ENST00000333511	T	0.60040	0.22	2.86	-0.386	0.12466	.	0.880482	0.09736	N	0.762478	T	0.21145	0.0509	N	0.08118	0	0.09310	N	0.999995	P	0.51057	0.941	B	0.24701	0.055	T	0.16719	-1.0393	10	0.16896	T	0.51	-0.2264	4.1335	0.10160	0.0:0.3412:0.3477:0.3111	.	122	P35613	BASI_HUMAN	V	122	ENSP00000333769:A122V	ENSP00000333769:A122V	A	+	2	0	BSG	529071	0.001000	0.12720	0.817000	0.32601	0.975000	0.68041	-0.018000	0.12568	0.286000	0.22352	0.462000	0.41574	GCG	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438630.2		+	ENST00000333511.3	Missense_Mutation	SNP	19 : 578071 - 578071 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	140	29
ALOX12B	242	broad.mit.edu	37	17	7978974	7978974	+	Silent	SNP	C	C	A	rs149967531		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7978974C>A	ENST00000319144.4	-	12	1853	c.1593G>T	c.(1591-1593)ccG>ccT	p.P531P	ALOX12B_ENST00000577351.1_Intron	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	531	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						ACTGCAATTCCGGATCACCCT	0.582		NA								Multiple Myeloma(8;0.094)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													198	193	195			NA	NA	17		NA											NA				7978974		2203	4300	6503	SO:0001819	synonymous_variant			AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	242	242	1.13.11.-	Arachidonate lipoxygenases	430	protein-coding gene	gene with protein product		603741			NA	9618483	Standard		NM_001139	NA	Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.1593G>T	17.37:g.7978974C>A		NA		37	CCDS11129.1																																																																																			ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226984.3		-	ENST00000319144.4	Silent	SNP	17 : 7978974 - 7978974 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1395	256
DSEL	92126	broad.mit.edu	37	18	65178608	65178608	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:65178608C>T	ENST00000310045.7	-	2	4741	c.3268G>A	c.(3268-3270)Gag>Aag	p.E1090K	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1080			K -> E (in a colorectal cancer sample; somatic mutation).			integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GGTTCATACTCGAAAGCATAA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	LYS/GLU	0,4406		0,0,2203	69	66	67		3268	4.8	0.7	18		67	1,8599	1.2+/-3.3	0,1,4299	no	missense	DSEL	NM_032160.2	56	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign	1090/1223	65178608	1,13005	2203	4300	6503	SO:0001583	missense			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451	92126	92126			18144	protein-coding gene	gene with protein product		611125	chromosome 18 open reading frame 4	C18orf4	NA	16505484	Standard	NM_032160	NM_032160	NA	Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.3268G>A	18.37:g.65178608C>T	ENSP00000310565:p.Glu1090Lys	NA	Q17RH1|Q6P5Z3	37	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495674	0.64186	0.0	1.16E-4	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.25414	1.8	4.79	4.79	0.61399	Sulfotransferase domain (1);	0.467156	0.19485	U	0.113125	T	0.45875	0.1364	M	0.68952	2.095	0.50813	D	0.99989	D	0.63880	0.993	P	0.56474	0.799	T	0.48768	-0.9006	10	0.66056	D	0.02	-16.9802	18.2029	0.89844	0.0:1.0:0.0:0.0	.	1080	Q8IZU8	DSEL_HUMAN	K	1090;1080	ENSP00000310565:E1090K	ENSP00000310565:E1090K	E	-	1	0	DSEL	63329588	1.000000	0.71417	0.725000	0.30721	0.448000	0.32197	5.870000	0.69620	2.356000	0.79943	0.563000	0.77884	GAG	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256221.1		-	ENST00000310045.7	Missense_Mutation	SNP	18 : 65178608 - 65178608 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	302	46
ESCO1	114799	broad.mit.edu	37	18	19154572	19154572	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:19154572T>G	ENST00000269214.5	-	4	1170	c.233A>C	c.(232-234)aAa>aCa	p.K78T		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	78					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TTTAGTAGCTTTATCATTAGA	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	172	169			NA	NA	18		NA											NA				19154572		2203	4300	6503	SO:0001583	missense			AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446	114799	114799			24645	protein-coding gene	gene with protein product		609674	establishment of cohesion 1 homolog 1 (S. cerevisiae)		NA	11572484, 14576321, 15958495	Standard	NM_052911	NM_052911	NA	Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.233A>C	18.37:g.19154572T>G	ENSP00000269214:p.Lys78Thr	NA	B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	37	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	T	1.828	-0.470443	0.04445	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	T;T	0.61510	0.1;1.66	5.73	3.32	0.38043	.	0.327087	0.28778	N	0.014166	T	0.41880	0.1178	L	0.40543	1.245	0.09310	N	1	B	0.24186	0.099	B	0.22601	0.04	T	0.21930	-1.0231	10	0.17369	T	0.5	-5.9998	6.6306	0.22855	0.1365:0.0721:0.0:0.7914	.	78	Q5FWF5	ESCO1_HUMAN	T	78	ENSP00000269214:K78T;ENSP00000372763:K78T	ENSP00000269214:K78T	K	-	2	0	ESCO1	17408570	0.998000	0.40836	0.005000	0.12908	0.039000	0.13416	1.947000	0.40293	0.515000	0.28320	0.533000	0.62120	AAA	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443942.1		-	ENST00000269214.5	Missense_Mutation	SNP	18 : 19154572 - 19154572 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1127	228
PIWIL3	440822	broad.mit.edu	37	22	25131759	25131759	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25131759C>A	ENST00000332271.5	-	13	1966	c.1550G>T	c.(1549-1551)aGc>aTc	p.S517I	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.S408I|PIWIL3_ENST00000533313.1_Missense_Mutation_p.S408I	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	517					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TCTGTGACTGCTCCTGCTATA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													213	207	209			NA	NA	22		NA											NA				25131759		2203	4300	6503	SO:0001583	missense			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571	440822	440822		Argonaute/PIWI family	18443	protein-coding gene	gene with protein product		610314	piwi-like 3 (Drosophila)		NA	12906857	Standard	NM_001008496	NM_001008496	NA	Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.1550G>T	22.37:g.25131759C>A	ENSP00000330031:p.Ser517Ile	NA		37	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641480	0.29157	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.05081	3.5;3.5;3.5	1.85	-2.71	0.05986	Ribonuclease H-like (1);	0.337015	0.28062	U	0.016756	T	0.03348	0.0097	N	0.08118	0	0.09310	N	1	B;P;P	0.45715	0.382;0.789;0.865	B;P;B	0.44597	0.031;0.454;0.326	T	0.40776	-0.9545	10	0.72032	D	0.01	4.0E-4	6.8962	0.24257	0.0:0.5027:0.0:0.4973	.	408;517;517	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	I	517;408;408	ENSP00000330031:S517I;ENSP00000431843:S408I;ENSP00000435718:S408I	ENSP00000330031:S517I	S	-	2	0	PIWIL3	23461759	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	1.032000	0.30178	-0.695000	0.05105	-0.657000	0.03884	AGC	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320084.2		-	ENST00000332271.5	Missense_Mutation	SNP	22 : 25131759 - 25131759 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1035	176
SYK	6850	broad.mit.edu	37	9	93606405	93606405	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93606405C>A	ENST00000375754.4	+	2	373	c.225C>A	c.(223-225)gcC>gcA	p.A75A	SYK_ENST00000476708.1_3'UTR|SYK_ENST00000375746.1_Silent_p.A75A|SYK_ENST00000375751.4_Silent_p.A75A|SYK_ENST00000375747.1_Silent_p.A75A	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	75	SH2 1.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GCACCTACGCCATCGCCGGTG	0.657		NA	T	ETV6, ITK	MDS, peripheral T-cell lymphoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		9	9q22	6850	spleen tyrosine kinase		L	0													53	42	46			NA	NA	9		NA											NA				93606405		2203	4300	6503	SO:0001819	synonymous_variant			L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025	6850	6850		SH2 domain containing	11491	protein-coding gene	gene with protein product		600085			NA	8082894, 1423621	Standard		XM_005252147	NA	Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.225C>A	9.37:g.93606405C>A		NA		37	CCDS6688.1																																																																																			SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053018.1		+	ENST00000375754.4	Silent	SNP	9 : 93606405 - 93606405 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	276	9
ARRDC1	92714	broad.mit.edu	37	9	140508784	140508784	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140508784G>A	ENST00000371421.4	+	6	716	c.652G>A	c.(652-654)Gac>Aac	p.D218N	ARRDC1_ENST00000491911.1_3'UTR	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	218										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		CTGGATCCACGACGTACGGAC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	74	71			NA	NA	9		NA											NA				140508784		2202	4299	6501	SO:0001583	missense			AJ420420	CCDS7049.1	9q34.3	2013-10-11			ENSG00000197070	ENSG00000197070	92714	92714			28633	protein-coding gene	gene with protein product	alpha-arrestin 1				NA	23886940	Standard	NM_152285	XM_005266119	NA	Approved	MGC40555	uc004cns.3	Q8N5I2	OTTHUMG00000020993	ENST00000371421.4:c.652G>A	9.37:g.140508784G>A	ENSP00000360475:p.Asp218Asn	NA		37	CCDS7049.1	.	.	.	.	.	.	.	.	.	.	g	19.91	3.915370	0.73098	.	.	ENSG00000197070	ENST00000371421;ENST00000419386	T;T	0.17691	3.29;2.26	5.15	4.25	0.50352	Immunoglobulin E-set (1);Arrestin-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.40767	0.1130	M	0.75447	2.3	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.997	T	0.28808	-1.0032	10	0.56958	D	0.05	-8.9991	12.5194	0.56050	0.0808:0.0:0.9192:0.0	.	107;218;182	Q59FD7;Q8N5I2;Q5T370	.;ARRD1_HUMAN;.	N	218;182	ENSP00000360475:D218N;ENSP00000406833:D182N	ENSP00000360475:D218N	D	+	1	0	ARRDC1	139628605	1.000000	0.71417	0.599000	0.28851	0.570000	0.35934	9.262000	0.95591	1.170000	0.42753	0.555000	0.69702	GAC	ARRDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055358.1		+	ENST00000371421.4	Missense_Mutation	SNP	9 : 140508784 - 140508784 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	847	167
HSD3B7	80270	broad.mit.edu	37	16	30999191	30999191	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30999191G>T	ENST00000297679.5	+	7	890	c.797G>T	c.(796-798)aGg>aTg	p.R266M	HSD3B7_ENST00000353250.5_3'UTR|HSD3B7_ENST00000262520.6_3'UTR	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	266					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TCACCCTACAGGAGCTACGAG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	124	125			NA	NA	16		NA											NA				30999191		2197	4299	6496	SO:0001583	missense			AF277719	CCDS10698.1, CCDS45466.1	16p11.2	2011-09-14			ENSG00000099377	ENSG00000099377	80270	80270	1.1.1.-	Short chain dehydrogenase/reductase superfamily / Extended SDR fold	18324	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 11E, member 3	607764			NA	11067870, 19027726	Standard		NM_001142777	NA	Approved	C(27)-3BETA-HSD, SDR11E3	uc002eaf.2	Q9H2F3	OTTHUMG00000132417	ENST00000297679.5:c.797G>T	16.37:g.30999191G>T	ENSP00000297679:p.Arg266Met	NA	Q9BSN9	37	CCDS10698.1	.	.	.	.	.	.	.	.	.	.	A	16.24	3.066174	0.55539	.	.	ENSG00000099377	ENST00000297679	T	0.62941	-0.01	5.1	5.1	0.69264	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.044917	0.85682	D	0.000000	T	0.30978	0.0782	N	0.00879	-1.12	0.80722	D	1	B	0.06786	0.001	B	0.12156	0.007	T	0.09422	-1.0675	10	0.41790	T	0.15	-25.6465	10.0568	0.42250	0.9187:0.0:0.0813:0.0	.	266	Q9H2F3	3BHS7_HUMAN	M	266	ENSP00000297679:R266M	ENSP00000297679:R266M	R	+	2	0	HSD3B7	30906692	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.505000	0.53356	0.785000	0.33685	-0.254000	0.11334	AGG	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255554.2		+	ENST00000297679.5	Missense_Mutation	SNP	16 : 30999191 - 30999191 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1424	51
MYCBP2	23077	broad.mit.edu	37	13	77692486	77692486	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77692486G>A	ENST00000482517.1	-	0	623				MYCBP2_ENST00000360084.5_Missense_Mutation_p.P195L|MYCBP2_ENST00000407578.2_Intron|MYCBP2_ENST00000544440.2_Intron|MYCBP2_ENST00000357337.6_Intron			O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTGAAGCTGAGGCTGCTGGAA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	23	24			NA	NA	13		NA											NA				77692486		876	1991	2867	SO:0001623	5_prime_UTR_variant			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810	23077	23077			23386	protein-coding gene	gene with protein product		610392	MYC binding protein 2		NA	9689053, 15057823	Standard	NM_015057	NM_015057	NA	Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000482517.1:c.-958C>T	13.37:g.77692486G>A		NA	A6NJC6|Q5JSX8|Q5VZN6|Q6PIB6|Q9UQ11|Q9Y6E4	37		.	.	.	.	.	.	.	.	.	.	G	26.6	4.751635	0.89753	.	.	ENSG00000005810	ENST00000360084	T	0.48836	0.8	5.83	4.97	0.65823	.	.	.	.	.	T	0.64159	0.2573	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67201	-0.5730	6	0.54805	T	0.06	.	16.5963	0.84797	0.0:0.1346:0.8654:0.0	.	.	.	.	L	195	ENSP00000353197:P195L	ENSP00000353197:P195L	P	-	2	0	MYCBP2	76590487	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.978000	0.88095	1.428000	0.47296	0.655000	0.94253	CCT	MYCBP2-003	KNOWN	basic	processed_transcript	NA	protein_coding	OTTHUMT00000045328.1		-	ENST00000482517.1	5'UTR	SNP	13 : 77692486 - 77692486 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	64	11
IDH1	3417	broad.mit.edu	37	2	209113362	209113362	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:209113362G>A	ENST00000415913.1	-	4	526	c.145C>T	c.(145-147)Cgt>Tgt	p.R49C	IDH1_ENST00000446179.1_Missense_Mutation_p.R49C|IDH1_ENST00000345146.2_Missense_Mutation_p.R49C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	49					2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		GTGGCATCACGATTCTCTATG	0.398		NA	Mis		gliobastoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	isocitrate dehydrogenase 1 (NADP+), soluble		O	0													146	119	128			NA	NA	2		NA											NA				209113362		2203	4300	6503	SO:0001583	missense				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	3417	3417	1.1.1.42		5382	protein-coding gene	gene with protein product		147700			NA		Standard		NM_005896	NA	Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.145C>T	2.37:g.209113362G>A	ENSP00000390265:p.Arg49Cys	NA	Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759019	0.69763	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282;ENST00000417583;ENST00000451391	T;T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39	5.4	4.51	0.55191	Isopropylmalate dehydrogenase-like domain (2);	0.047279	0.85682	D	0.000000	T	0.81375	0.4809	H	0.99347	4.525	0.80722	D	1	B	0.18166	0.026	B	0.14578	0.011	T	0.82853	-0.0252	10	0.87932	D	0	-30.6508	15.4143	0.74952	0.0:0.0:0.8597:0.1403	.	49	O75874	IDHC_HUMAN	C	49	ENSP00000260985:R49C;ENSP00000410513:R49C;ENSP00000390265:R49C;ENSP00000391075:R49C;ENSP00000409045:R49C;ENSP00000396787:R49C	ENSP00000260985:R49C	R	-	1	0	IDH1	208821607	1.000000	0.71417	0.980000	0.43619	0.992000	0.81027	6.406000	0.73276	1.246000	0.43901	0.555000	0.69702	CGT	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336672.1		-	ENST00000415913.1	Missense_Mutation	SNP	2 : 209113362 - 209113362 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	438	111
APPL1	26060	broad.mit.edu	37	3	57294725	57294725	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57294725C>T	ENST00000288266.3	+	19	1912	c.1765C>T	c.(1765-1767)Cgg>Tgg	p.R589W		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	589	PID.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		ATTTGTTCTTCGGACATCAAG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													197	194	195			NA	NA	3		NA											NA				57294725		2203	4300	6503	SO:0001583	missense			AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500	26060	26060		Pleckstrin homology (PH) domain containing	24035	protein-coding gene	gene with protein product		604299			NA	10490823, 17030088	Standard	NM_012096	NM_012096	NA	Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.1765C>T	3.37:g.57294725C>T	ENSP00000288266:p.Arg589Trp	NA	Q9P2B9	37	CCDS2882.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810490	0.90707	.	.	ENSG00000157500	ENST00000288266	T	0.12255	2.7	5.37	5.37	0.77165	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.133459	0.51477	D	0.000085	T	0.30293	0.0760	L	0.54323	1.7	0.52501	D	0.999957	D;D	0.89917	0.999;1.0	P;P	0.62089	0.854;0.898	T	0.00912	-1.1517	10	0.87932	D	0	.	14.9148	0.70789	0.152:0.848:0.0:0.0	.	572;589	B4DQX8;Q9UKG1	.;DP13A_HUMAN	W	589	ENSP00000288266:R589W	ENSP00000288266:R589W	R	+	1	2	APPL1	57269765	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.438000	0.59961	2.511000	0.84671	0.650000	0.86243	CGG	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258196.2		+	ENST00000288266.3	Missense_Mutation	SNP	3 : 57294725 - 57294725 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1121	181
NRP1	8829	broad.mit.edu	37	10	33502412	33502412	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:33502412G>A	ENST00000265371.4	-	10	2041	c.1516C>T	c.(1516-1518)Cga>Tga	p.R506*	NRP1_ENST00000374821.5_Nonsense_Mutation_p.R506*|NRP1_ENST00000374867.2_Nonsense_Mutation_p.R506*|NRP1_ENST00000374816.3_Nonsense_Mutation_p.R506*|NRP1_ENST00000374822.4_Nonsense_Mutation_p.R506*|RP11-342D11.2_ENST00000451530.1_RNA|NRP1_ENST00000374823.5_Nonsense_Mutation_p.R506*|NRP1_ENST00000432372.2_Nonsense_Mutation_p.R506*|NRP1_ENST00000374875.1_Nonsense_Mutation_p.R325*|NRP1_ENST00000395995.1_Nonsense_Mutation_p.R506*			O14786	NRP1_HUMAN	neuropilin 1	506	F5/8 type C 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TTGTTCTCTCGGTGCTTCCCA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(104;886 1489 44640 45944 51153)							NA				0													230	195	207			NA	NA	10		NA											NA				33502412		2203	4300	6503	SO:0001587	stop_gained			AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250	8829	8829		CD molecules	8004	protein-coding gene	gene with protein product		602069			NA	9529250, 9331348	Standard		NM_003873	NA	Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.1516C>T	10.37:g.33502412G>A	ENSP00000265371:p.Arg506*	NA	B0LPG9|O60461|Q5T7F2|Q5T7F3|Q86T59|Q96IH5	37	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	G	44	10.591483	0.99433	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816;ENST00000432372	.	.	.	5.95	2.72	0.32119	.	0.106857	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-15.8145	15.4444	0.75216	0.0:0.0:0.368:0.632	.	.	.	.	X	506;325;506;506;506;506;506;506;179	.	ENSP00000265371:R506X	R	-	1	2	NRP1	33542418	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	2.187000	0.42602	0.688000	0.31529	0.655000	0.94253	CGA	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051203.2		-	ENST00000265371.4	Nonsense_Mutation	SNP	10 : 33502412 - 33502412 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	950	179
ZNF438	220929	broad.mit.edu	37	10	31138175	31138175	+	Translation_Start_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:31138175G>A	ENST00000375311.1	-	0	664				ZNF438_ENST00000413025.1_Missense_Mutation_p.R387W|ZNF438_ENST00000444692.2_Missense_Mutation_p.R377W|ZNF438_ENST00000442986.1_Missense_Mutation_p.R387W|ZNF438_ENST00000452305.1_Missense_Mutation_p.R377W|ZNF438_ENST00000436087.2_Missense_Mutation_p.R387W|ZNF438_ENST00000538351.2_Missense_Mutation_p.R338W|ZNF438_ENST00000331737.6_Missense_Mutation_p.R377W|ZNF438_ENST00000361310.3_Missense_Mutation_p.R387W			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GGTACCTTCCGTTTTCTTCCT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	105	107			NA	NA	10		NA											NA				31138175		2203	4300	6503					AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621	220929	220929		Zinc fingers, C2H2-type	21029	protein-coding gene	gene with protein product					NA		Standard	NM_182755	NM_182755	NA	Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000375311.1:c.-150C>T	10.37:g.31138175G>A		NA	A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	37		.	.	.	.	.	.	.	.	.	.	G	6.803	0.517255	0.13005	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351;ENST00000430896	T;T;T;T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6;2.6;2.6;2.6	5.73	1.75	0.24633	.	0.248451	0.45867	N	0.000325	T	0.07188	0.0182	L	0.34521	1.04	0.37336	D	0.910175	P;P	0.41710	0.647;0.76	B;B	0.32533	0.07;0.147	T	0.37865	-0.9687	10	0.42905	T	0.14	-7.1085	4.2712	0.10787	0.2313:0.0:0.3906:0.3781	.	387;377	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	W	377;387;387;387;387;377;377;338;106	ENSP00000333571:R377W;ENSP00000354663:R387W;ENSP00000406934:R387W;ENSP00000412363:R387W;ENSP00000387546:R387W;ENSP00000413060:R377W;ENSP00000410898:R377W;ENSP00000445461:R338W	ENSP00000333571:R377W	R	-	1	2	ZNF438	31178181	0.985000	0.35326	0.003000	0.11579	0.048000	0.14542	2.098000	0.41757	0.063000	0.16370	-0.133000	0.14855	CGG	ZNF438-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000047441.1		-	ENST00000375311.1	De_novo_Start_OutOfFrame	SNP	10 : 31138175 - 31138175 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	712	138
TLK2	11011	broad.mit.edu	37	17	60685440	60685440	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60685440A>G	ENST00000582809.1	+	22	2266	c.1563A>G	c.(1561-1563)caA>caG	p.Q521Q	TLK2_ENST00000326270.9_Silent_p.Q692Q|TLK2_ENST00000346027.5_Silent_p.Q670Q|TLK2_ENST00000542523.1_Silent_p.Q638Q|TLK2_ENST00000343388.7_Silent_p.Q638Q			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	692	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						ACATCCTACAAGAGAATACGA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	76	76			NA	NA	17		NA											NA				60685440		2203	4299	6502	SO:0001819	synonymous_variant			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.1563A>G	17.37:g.60685440A>G		NA	D3DU07|Q9UKI7|Q9Y4F7	37																																																																																				TLK2-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000445133.1		+	ENST00000582809.1	Silent	SNP	17 : 60685440 - 60685440 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	357	67
BRPF3	27154	broad.mit.edu	37	6	36185695	36185695	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36185695C>T	ENST00000357641.6	+	9	3244	c.2991C>T	c.(2989-2991)ggC>ggT	p.G997G	BRPF3_ENST00000534400.1_Splice_Site_p.G997G|BRPF3_ENST00000339717.7_Splice_Site_p.G727G|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000543502.1_Splice_Site_p.G727G	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	997					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	p.G997G(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CCTTGGCAGGCATGACCAACG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	ovary(1)											148	122	131			NA	NA	6		NA											NA				36185695		2203	4300	6503	SO:0001630	splice_region_variant			AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070	27154	27154			14256	protein-coding gene	gene with protein product					NA	10574462	Standard	NM_015695	NM_015695	NA	Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.2990-1C>T	6.37:g.36185695C>T		NA	A6NJE2|Q5R3K8	37	CCDS34437.1																																																																																			BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040335.3	Silent	+	ENST00000357641.6	Splice_Site	SNP	6 : 36185695 - 36185695 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	295	53
VARS2	57176	broad.mit.edu	37	6	30890674	30890674	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30890674G>T	ENST00000321897.5	+	22	2738		c.e22-1		VARS2_ENST00000476162.1_Splice_Site|VARS2_ENST00000541562.1_Splice_Site|VARS2_ENST00000542001.1_Splice_Site|VARS2_ENST00000416670.2_Splice_Site			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	NA					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TCTGGTTGCAGAAAAAGGACT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	106	104			NA	NA	6		NA											NA				30890674		1509	2708	4217	SO:0001630	splice_region_variant			AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	57176	57176	6.1.1.9	Aminoacyl tRNA synthetases / Class I	21642	protein-coding gene	gene with protein product	valine tRNA ligase 2, mitochondrial	612802	valyl-tRNA synthetase 2-like, valyl-tRNA synthetase like, valyl-tRNA synthetase 2, mitochondrial (putative)	VARS2L, VARSL	NA	1898367, 11572484, 18400783	Standard	NM_020442	NM_001167734	NA	Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.2107-1G>T	6.37:g.30890674G>T		NA	A2ABL7|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	37	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341551	0.61073	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4273	0.83818	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VARS2	30998653	1.000000	0.71417	0.993000	0.49108	0.745000	0.42441	8.836000	0.92105	2.571000	0.86741	0.561000	0.74099	.	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076566.2	Intron	+	ENST00000321897.5	Splice_Site	SNP	6 : 30890674 - 30890674 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	630	117
MRPL15	29088	broad.mit.edu	37	8	55055322	55055322	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55055322G>T	ENST00000260102.4	+	4	603	c.529G>T	c.(529-531)Gcc>Tcc	p.A177S		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	177					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			TGTTACTACAGCCTTCTATGA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	129	133			NA	NA	8		NA											NA				55055322		2203	4300	6503	SO:0001583	missense			AB051619	CCDS6158.1	8q11.2-q13	2012-09-13			ENSG00000137547	ENSG00000137547	29088	29088		Mitochondrial ribosomal proteins / large subunits	14054	protein-coding gene	gene with protein product		611828			NA	11543634	Standard	NM_014175	NM_014175	NA	Approved	RPML7, MRP-L7, HSPC145, L15mt, MRP-L15	uc003xsa.2	Q9P015	OTTHUMG00000164315	ENST00000260102.4:c.529G>T	8.37:g.55055322G>T	ENSP00000260102:p.Ala177Ser	NA	Q96Q54|Q9H0Y1	37	CCDS6158.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353741	0.41700	.	.	ENSG00000137547	ENST00000260102;ENST00000519831	.	.	.	5.33	4.39	0.52855	Ribosomal protein L18e/L15P (1);	0.186728	0.56097	D	0.000030	T	0.45677	0.1354	N	0.20807	0.61	0.38242	D	0.941351	B	0.27450	0.179	B	0.34931	0.192	T	0.45600	-0.9250	9	0.28530	T	0.3	-27.9279	14.5839	0.68310	0.0:0.0:0.7817:0.2183	.	177	Q9P015	RM15_HUMAN	S	177	.	ENSP00000260102:A177S	A	+	1	0	MRPL15	55217875	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	2.928000	0.48908	2.652000	0.90054	0.655000	0.94253	GCC	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378254.1		+	ENST00000260102.4	Missense_Mutation	SNP	8 : 55055322 - 55055322 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	476	86
RARB	5915	broad.mit.edu	37	3	25502706	25502706	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:25502706C>A	ENST00000330688.4	+	2	601	c.180C>A	c.(178-180)agC>agA	p.S60R	RARB_ENST00000458646.1_5'UTR|RARB_ENST00000437042.2_5'UTR|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000404969.1_Missense_Mutation_p.S67R	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	67	Modulating.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AGAGCACCAGCTCTGAGGAAC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	103	100			NA	NA	3		NA											NA				25502706		2203	4300	6503	SO:0001583	missense			Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092	5915	5915		Nuclear hormone receptors	9865	protein-coding gene	gene with protein product		180220			NA		Standard	NM_000965, NM_016152	NM_016152	NA	Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000330688.4:c.180C>A	3.37:g.25502706C>A	ENSP00000332296:p.Ser60Arg	NA	P12891|Q00989|Q15298|Q9UN48	37	CCDS2642.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.730521	0.89390	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000330688	D;D;D	0.92858	-2.9;-3.12;-3.09	5.71	4.73	0.59995	.	0.088824	0.85682	D	0.000000	D	0.92740	0.7692	L	0.56280	1.765	0.53688	D	0.999978	D;D	0.62365	0.991;0.977	D;P	0.68039	0.955;0.905	D	0.91640	0.5326	10	0.72032	D	0.01	.	3.7645	0.08617	0.0:0.667:0.0:0.333	.	67;60	P10826;F1D8S6	RARB_HUMAN;.	R	67;67;67;60	ENSP00000373282:S67R;ENSP00000385865:S67R;ENSP00000332296:S60R	ENSP00000332296:S60R	S	+	3	2	RARB	25477710	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.273000	0.43381	2.723000	0.93209	0.644000	0.83932	AGC	RARB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340847.1		+	ENST00000330688.4	Missense_Mutation	SNP	3 : 25502706 - 25502706 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	496	80
LIG4	3981	broad.mit.edu	37	13	108863228	108863228	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108863228T>C	ENST00000356922.4	-	2	661	c.389A>G	c.(388-390)tAt>tGt	p.Y130C	LIG4_ENST00000442234.1_Missense_Mutation_p.Y130C|LIG4_ENST00000405925.1_Missense_Mutation_p.Y130C	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	130					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CAACACAAAATATGCAATCAT	0.373		NA						Non-homologous end-joining						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	132	130			NA	NA	13		NA											NA				108863228		2203	4300	6503	SO:0001583	missense			X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	3981	3981	6.5.1.1		6601	protein-coding gene	gene with protein product	polydeoxyribonucleotide synthase [ATP] 4, polynucleotide ligase, sealase, DNA repair enzyme, DNA joinase	601837			NA	7760816	Standard	NM_002312	NM_001098268	NA	Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.389A>G	13.37:g.108863228T>C	ENSP00000349393:p.Tyr130Cys	NA	Q8IY66|Q8TEU5	37	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	T	17.89	3.499143	0.64298	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.17854	2.25;2.25;2.25	5.84	5.84	0.93424	DNA ligase, ATP-dependent, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.40932	0.1137	M	0.81802	2.56	0.80722	D	1	D	0.59357	0.985	P	0.60415	0.874	T	0.23833	-1.0177	10	0.39692	T	0.17	.	15.4025	0.74852	0.0:0.0:0.0:1.0	.	130	P49917	DNLI4_HUMAN	C	130	ENSP00000385955:Y130C;ENSP00000402030:Y130C;ENSP00000349393:Y130C	ENSP00000349393:Y130C	Y	-	2	0	LIG4	107661229	1.000000	0.71417	0.993000	0.49108	0.912000	0.54170	7.633000	0.83260	2.232000	0.73038	0.523000	0.50628	TAT	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045738.4		-	ENST00000356922.4	Missense_Mutation	SNP	13 : 108863228 - 108863228 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	803	160
ABCA12	26154	broad.mit.edu	37	2	215862523	215862523	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215862523T>G	ENST00000272895.7	-	23	3409	c.3190A>C	c.(3190-3192)Agt>Cgt	p.S1064R	ABCA12_ENST00000389661.4_Missense_Mutation_p.S746R	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1064					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TAAGAGACACTGGTTAGGAAG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(66;664 1488 5121 34295)							NA				0													75	73	74			NA	NA	2		NA											NA				215862523		2203	4300	6503	SO:0001583	missense			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452	26154	26154		ATP binding cassette transporters / subfamily A	14637	protein-coding gene	gene with protein product		607800	ichthyosis congenita II, lamellar ichthyosis B	ICR2B	NA	11435397, 12915478, 8845852, 10094194	Standard	NM_173076	NM_015657	NA	Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.3190A>C	2.37:g.215862523T>G	ENSP00000272895:p.Ser1064Arg	NA	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.054625	0.75960	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.87256	-2.23;-2.23	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.93151	0.7819	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.79784	0.993;0.962	D	0.93109	0.6515	10	0.52906	T	0.07	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1064;746	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	R	1064;746	ENSP00000272895:S1064R;ENSP00000374312:S746R	ENSP00000272895:S1064R	S	-	1	0	ABCA12	215570768	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.596000	0.67570	2.371000	0.80710	0.533000	0.62120	AGT	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337111.1		-	ENST00000272895.7	Missense_Mutation	SNP	2 : 215862523 - 215862523 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	62
MCM3AP	8888	broad.mit.edu	37	21	47664864	47664864	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47664864G>A	ENST00000397708.1	-	24	5149	c.4895C>T	c.(4894-4896)tCc>tTc	p.S1632F	MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.S1632F|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000414659.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1632					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GACAGGCCAGGACAGGTCACA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	79	84			NA	NA	21		NA											NA				47664864		2203	4300	6503	SO:0001583	missense			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294	8888	8888			6946	protein-coding gene	gene with protein product	germinal-centre associated nuclear protein	603294	minichromosome maintenance deficient (S. cerevisiae) 3-associated protein, MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein		NA	9712829, 16914116, 21195085	Standard	NM_003906	XM_005261205	NA	Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.4895C>T	21.37:g.47664864G>A	ENSP00000380820:p.Ser1632Phe	NA	Q2M3C1|Q9UMT4	37	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830034	0.50845	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	T;T	0.13538	2.58;2.58	5.45	5.45	0.79879	.	0.052103	0.85682	D	0.000000	T	0.40839	0.1133	M	0.73598	2.24	0.47819	D	0.999521	D;D	0.89917	1.0;1.0	D;D	0.78314	0.986;0.991	T	0.24584	-1.0156	10	0.72032	D	0.01	-24.0304	19.28	0.94050	0.0:0.0:1.0:0.0	.	1632;127	O60318;B3KT88	MCM3A_HUMAN;.	F	1632;1632;127	ENSP00000380820:S1632F;ENSP00000291688:S1632F	ENSP00000291688:S1632F	S	-	2	0	MCM3AP	46489292	1.000000	0.71417	0.999000	0.59377	0.220000	0.24768	5.694000	0.68272	2.545000	0.85829	0.655000	0.94253	TCC	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207254.1		-	ENST00000397708.1	Missense_Mutation	SNP	21 : 47664864 - 47664864 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	201	23
ABCA7	10347	broad.mit.edu	37	19	1042089	1042089	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1042089G>A	ENST00000263094.6	+	5	560	c.329G>A	c.(328-330)cGc>cAc	p.R110H	ABCA7_ENST00000433129.1_Missense_Mutation_p.R110H	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	110					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGATGCCCGCACTGTGCTG	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													8	9	9			NA	NA	19		NA											NA				1042089		2145	4197	6342	SO:0001583	missense			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687	10347	10347		ATP binding cassette transporters / subfamily A	37	protein-coding gene	gene with protein product		605414			NA		Standard	NM_019112	NM_019112	NA	Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.329G>A	19.37:g.1042089G>A	ENSP00000263094:p.Arg110His	NA	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	37	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784331	0.31593	.	.	ENSG00000064687	ENST00000263094;ENST00000524850;ENST00000531467;ENST00000433129	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	3.47	-6.85	0.01681	.	.	.	.	.	T	0.27765	0.0683	N	0.20986	0.625	0.09310	N	1	B;B	0.11235	0.004;0.0	B;B	0.04013	0.001;0.0	T	0.15752	-1.0426	9	0.39692	T	0.17	.	1.6592	0.02787	0.4479:0.1362:0.2784:0.1375	.	110;110	B4DVJ5;Q8IZY2	.;ABCA7_HUMAN	H	110;110;108;110	ENSP00000263094:R110H;ENSP00000431473:R110H;ENSP00000433545:R108H;ENSP00000414062:R110H	ENSP00000263094:R110H	R	+	2	0	ABCA7	993089	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.244000	0.02902	-1.205000	0.02645	-1.157000	0.01802	CGC	ABCA7-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394993.1		+	ENST00000263094.6	Missense_Mutation	SNP	19 : 1042089 - 1042089 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	127	18
DNAJB11	51726	broad.mit.edu	37	3	186299230	186299230	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186299230G>A	ENST00000439351.1	+	6	1456	c.527G>A	c.(526-528)cGg>cAg	p.R176Q	DNAJB11_ENST00000265028.3_Missense_Mutation_p.R176Q			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	176					protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		CAAGAGATGCGGACCACCCAG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	91	91			NA	NA	3		NA											NA				186299230		2203	4300	6503	SO:0001583	missense			AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520	51726	51726		Heat shock proteins / DNAJ (HSP40)	14889	protein-coding gene	gene with protein product		611341			NA	10827079, 11147971	Standard		NM_016306	NA	Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.527G>A	3.37:g.186299230G>A	ENSP00000414398:p.Arg176Gln	NA	Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	37	CCDS3277.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.240637	0.58995	.	.	ENSG00000090520	ENST00000439351;ENST00000265028	T;T	0.67865	-0.29;-0.29	5.85	4.98	0.66077	HSP40/DnaJ peptide-binding (1);	0.000000	0.85682	D	0.000000	T	0.53222	0.1783	L	0.33624	1.015	0.80722	D	1	B	0.27765	0.188	B	0.20184	0.028	T	0.49380	-0.8946	10	0.27082	T	0.32	-15.0608	12.9238	0.58247	0.0784:0.0:0.9216:0.0	.	176	Q9UBS4	DJB11_HUMAN	Q	176	ENSP00000414398:R176Q;ENSP00000265028:R176Q	ENSP00000265028:R176Q	R	+	2	0	DNAJB11	187781924	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	1.467000	0.48044	-0.150000	0.13652	CGG	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344779.1		+	ENST00000439351.1	Missense_Mutation	SNP	3 : 186299230 - 186299230 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	585	85
CABLES1	91768	broad.mit.edu	37	18	20716380	20716380	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:20716380G>T	ENST00000256925.7	+	1	654	c.654G>T	c.(652-654)caG>caT	p.Q218H	CABLES1_ENST00000400473.2_Intron	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	218	Interacts with CDK3 (By similarity).				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TCAGCGTGCAGGTGCCGGCGG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	18	17			NA	NA	18		NA											NA				20716380		1902	4096	5998	SO:0001583	missense			BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508	91768	91768			25097	protein-coding gene	gene with protein product		609194			NA	12477932	Standard	NM_138375	NM_138375	NA	Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.654G>T	18.37:g.20716380G>T	ENSP00000256925:p.Gln218His	NA	Q8N3Y8|Q8NA22|Q9BTG1	37	CCDS42417.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262652	0.39995	.	.	ENSG00000134508	ENST00000256925	T	0.50277	0.75	3.54	1.59	0.23543	.	0.350198	0.29707	N	0.011403	T	0.30386	0.0763	N	0.22421	0.69	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.05818	-1.0862	10	0.29301	T	0.29	-0.8505	10.6056	0.45392	0.0:0.3801:0.6199:0.0	.	218	Q8TDN4	CABL1_HUMAN	H	218	ENSP00000256925:Q218H	ENSP00000256925:Q218H	Q	+	3	2	CABLES1	18970378	0.996000	0.38824	1.000000	0.80357	0.746000	0.42486	0.386000	0.20702	0.264000	0.21851	0.456000	0.33151	CAG	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445198.2		+	ENST00000256925.7	Missense_Mutation	SNP	18 : 20716380 - 20716380 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	92	14
TSSK2	23617	broad.mit.edu	37	22	19119450	19119450	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19119450G>A	ENST00000399635.2	+	1	1130	c.538G>A	c.(538-540)Gca>Aca	p.A180T	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	180	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					CGGGTCGGCAGCATATGCAGC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	96	97			NA	NA	22		NA											NA				19119450		2203	4300	6503	SO:0001583	missense			AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203	23617	23617			11401	protein-coding gene	gene with protein product		610710	serine/threonine kinase 22B (spermiogenesis associated)	STK22B	NA	10591208	Standard		NM_053006	NA	Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.538G>A	22.37:g.19119450G>A	ENSP00000382544:p.Ala180Thr	NA	Q8IY55	37	CCDS13755.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241807	0.58995	.	.	ENSG00000206203	ENST00000399635	T	0.64991	-0.13	5.34	5.34	0.76211	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49916	D	0.000140	T	0.75671	0.3881	L	0.53780	1.695	0.39311	D	0.96508	D	0.89917	1.0	D	0.85130	0.997	T	0.75204	-0.3400	10	0.39692	T	0.17	.	17.823	0.88656	0.0:0.0:1.0:0.0	.	180	Q96PF2	TSSK2_HUMAN	T	180	ENSP00000382544:A180T	ENSP00000382544:A180T	A	+	1	0	TSSK2	17499450	0.322000	0.24634	0.088000	0.20740	0.068000	0.16541	2.742000	0.47434	2.487000	0.83934	0.655000	0.94253	GCA	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316431.1		+	ENST00000399635.2	Missense_Mutation	SNP	22 : 19119450 - 19119450 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	642	61
LRRC14B	389257	broad.mit.edu	37	5	195268	195268	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:195268C>T	ENST00000328278.3	+	2	1373	c.1345C>T	c.(1345-1347)Cag>Tag	p.Q449*		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	449										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						GTTCAACCAGCAGAAATACGA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	118	113			NA	NA	5		NA											NA				195268		2155	4267	6422	SO:0001587	stop_gained				CCDS47184.1	5p15.33	2010-02-17			ENSG00000185028	ENSG00000185028	389257	389257			37268	protein-coding gene	gene with protein product					NA		Standard	NM_001080478	NM_001080478	NA	Approved		uc003jal.1	A6NHZ5	OTTHUMG00000161578	ENST00000328278.3:c.1345C>T	5.37:g.195268C>T	ENSP00000327675:p.Gln449*	NA		37	CCDS47184.1	.	.	.	.	.	.	.	.	.	.	C	35	5.567915	0.96540	.	.	ENSG00000185028	ENST00000328278	.	.	.	5.41	4.52	0.55395	.	0.268654	0.43110	D	0.000604	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	12.4499	0.55671	0.0:0.6762:0.3238:0.0	.	.	.	.	X	449	.	ENSP00000327675:Q449X	Q	+	1	0	LRRC14B	248268	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	2.016000	0.40971	1.259000	0.44117	0.561000	0.74099	CAG	LRRC14B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365393.2		+	ENST00000328278.3	Nonsense_Mutation	SNP	5 : 195268 - 195268 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	941	199
PPP4R4	57718	broad.mit.edu	37	14	94711935	94711935	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94711935T>A	ENST00000304338.3	+	13	1510	c.1356T>A	c.(1354-1356)gcT>gcA	p.A452A		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	452						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TACTAGATGCTCTTATAGATC	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	90	89			NA	NA	14		NA											NA				94711935		2203	4299	6502	SO:0001819	synonymous_variant			AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698	57718	57718		Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits	23788	protein-coding gene	gene with protein product	cilia and flagella associated protein 14		KIAA1622	KIAA1622	NA	18715871	Standard	NM_058237	NM_020958	NA	Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.1356T>A	14.37:g.94711935T>A		NA	Q9BUF8|Q9HCF0	37	CCDS9921.1																																																																																			PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413056.1		+	ENST00000304338.3	Silent	SNP	14 : 94711935 - 94711935 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	291	52
FGD4	121512	broad.mit.edu	37	12	32772647	32772647	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32772647C>A	ENST00000525053.1	+	11	1774	c.1690C>A	c.(1690-1692)Ctg>Atg	p.L564M	FGD4_ENST00000266482.3_Missense_Mutation_p.L204M|FGD4_ENST00000531134.1_Missense_Mutation_p.L537M|FGD4_ENST00000546442.1_Missense_Mutation_p.L359M|FGD4_ENST00000534526.2_Missense_Mutation_p.L589M|FGD4_ENST00000381025.3_Missense_Mutation_p.L204M|FGD4_ENST00000427716.2_Missense_Mutation_p.L452M			Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	452					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					CAACATGTTGCTGTACTGTGT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	117	120			NA	NA	12		NA											NA				32772647		2203	4300	6503	SO:0001583	missense			AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132	121512	121512		Zinc fingers, FYVE domain containing, Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	19125	protein-coding gene	gene with protein product		611104	FGD1 family, member 4		NA	11527409	Standard	NM_139241	NM_139241	NA	Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000525053.1:c.1690C>A	12.37:g.32772647C>A	ENSP00000433666:p.Leu564Met	NA	Q6ULS2|Q8TCP6	37		.	.	.	.	.	.	.	.	.	.	C	17.07	3.294195	0.60086	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000266482;ENST00000546442;ENST00000525053;ENST00000381025	D;D;D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62;-2.62;-1.65	5.67	4.78	0.61160	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.41294	D	0.000909	D	0.95532	0.8548	M	0.89414	3.03	0.43657	D	0.99607	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.996	D	0.95778	0.8814	10	0.87932	D	0	-10.4131	11.6996	0.51562	0.0:0.8583:0.0:0.1417	.	564;537;452;204	E9PJX4;B7Z493;Q96M96;G3XA97	.;.;FGD4_HUMAN;.	M	589;537;452;204;359;564;204	ENSP00000449273:L589M;ENSP00000431323:L537M;ENSP00000394487:L452M;ENSP00000266482:L204M;ENSP00000446695:L359M;ENSP00000433666:L564M;ENSP00000370413:L204M	ENSP00000266482:L204M	L	+	1	2	FGD4	32663914	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.843000	0.48238	1.385000	0.46445	0.655000	0.94253	CTG	FGD4-011	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000390888.1		+	ENST00000525053.1	Missense_Mutation	SNP	12 : 32772647 - 32772647 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	646	122
TRIML2	205860	broad.mit.edu	37	4	189012679	189012679	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:189012679C>T	ENST00000512729.1	-	7	1386	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	TRIML2_ENST00000326754.3_Missense_Mutation_p.E363K	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	338	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		AGGGACATCTCGGTCACATTG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	166	163			NA	NA	4		NA											NA				189012679		2203	4300	6503	SO:0001583	missense			AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046	205860	205860			26378	protein-coding gene	gene with protein product	SPRY domain containing 6				NA		Standard	NM_173553	NM_173553	NA	Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.1012G>A	4.37:g.189012679C>T	ENSP00000422581:p.Glu338Lys	NA		37	CCDS3850.1	.	.	.	.	.	.	.	.	.	.	C	6.813	0.519012	0.13005	.	.	ENSG00000179046	ENST00000512729;ENST00000326754	T;T	0.61040	0.14;0.14	5.85	-0.853	0.10709	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	1.063480	0.07343	N	0.881033	T	0.30759	0.0775	N	0.10972	0.075	0.09310	N	1	B;P	0.34724	0.268;0.465	B;B	0.21151	0.033;0.033	T	0.10917	-1.0609	10	0.39692	T	0.17	.	7.1236	0.25458	0.0:0.5251:0.232:0.2429	.	363;338	B7ZLC3;Q8N7C3	.;TRIMM_HUMAN	K	338;363	ENSP00000422581:E338K;ENSP00000317498:E363K	ENSP00000317498:E363K	E	-	1	0	TRIML2	189249673	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.750000	0.04808	-0.136000	0.11475	-0.176000	0.13171	GAG	TRIML2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359733.1		-	ENST00000512729.1	Missense_Mutation	SNP	4 : 189012679 - 189012679 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	621	132
MGA	23269	broad.mit.edu	37	15	41991346	41991346	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41991346G>T	ENST00000570161.1	+	4	2177	c.2177G>T	c.(2176-2178)gGt>gTt	p.G726V	MGA_ENST00000566586.1_Missense_Mutation_p.G726V|MGA_ENST00000545763.1_Missense_Mutation_p.G726V|MGA_ENST00000389936.4_Missense_Mutation_p.G726V|MGA_ENST00000219905.7_Missense_Mutation_p.G726V			Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	726						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		ATACATCCTGGTCTTCAAGAA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	61	63			NA	NA	15		NA											NA				41991346		1832	4077	5909	SO:0001583	missense			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197	23269	23269		MAX dimerization proteins, T-boxes	14010	protein-coding gene	gene with protein product			MAX gene associated		NA		Standard	NM_001164273.1	NM_001080541	NA	Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.2177G>T	15.37:g.41991346G>T	ENSP00000457035:p.Gly726Val	NA	Q9H8R3|Q9H9N7|Q9UG69|Q9Y4E9	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.422001	0.25639	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.34275	1.37;1.37;1.37	4.81	3.87	0.44632	.	3.584270	0.00424	N	0.000070	T	0.26955	0.0660	N	0.08118	0	0.43471	D	0.995682	B;B	0.17268	0.021;0.001	B;B	0.17722	0.019;0.002	T	0.01810	-1.1269	10	0.32370	T	0.25	.	12.9702	0.58508	0.0:0.1692:0.8308:0.0	.	726;726	F5H7K2;E7ENI0	.;.	V	726	ENSP00000219905:G726V;ENSP00000374586:G726V;ENSP00000442467:G726V	ENSP00000219905:G726V	G	+	2	0	MGA	39778638	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.051000	0.41307	0.967000	0.38186	0.561000	0.74099	GGT	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000420229.1		+	ENST00000570161.1	Missense_Mutation	SNP	15 : 41991346 - 41991346 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	124	18
ATP6V0A1	535	broad.mit.edu	37	17	40620067	40620067	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40620067T>G	ENST00000343619.4	+	4	359	c.236T>G	c.(235-237)aTt>aGt	p.I79S	ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000544137.1_Intron	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	79					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	p.I79N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		AACATTCCGATTATGGACACC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											96	94	95			NA	NA	17		NA											NA				40620067		2203	4300	6503	SO:0001583	missense			U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627	535	535		ATPases / V-type	865	protein-coding gene	gene with protein product		192130	ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD), ATPase, H+ transporting, lysosomal V0 subunit a isoform 1, ATPase, H+ transporting, lysosomal V0 subunit A1	VPP1, ATP6N1, ATP6N1A	NA	7774924	Standard	NM_001130020	NM_001130020	NA	Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.236T>G	17.37:g.40620067T>G	ENSP00000342951:p.Ile79Ser	NA	Q8N5G7|Q9NSX0	37	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	T	18.66	3.671138	0.67814	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728	D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06	5.99	5.99	0.97316	.	0.153144	0.56097	D	0.000022	D	0.88433	0.6435	M	0.73962	2.25	0.80722	D	1	B;P;P;P;P;P	0.45240	0.343;0.494;0.621;0.629;0.854;0.567	P;B;P;B;P;P	0.47299	0.474;0.371;0.493;0.243;0.543;0.462	D	0.89748	0.3938	10	0.87932	D	0	-25.0355	16.4943	0.84223	0.0:0.0:0.0:1.0	.	79;79;79;79;79;79	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1;F5H569	.;.;.;VPP1_HUMAN;.;.	S	79	ENSP00000342951:I79S;ENSP00000444676:I79S;ENSP00000377415:I79S;ENSP00000264649:I79S;ENSP00000443991:I79S	ENSP00000264649:I79S	I	+	2	0	ATP6V0A1	37873593	1.000000	0.71417	0.997000	0.53966	0.839000	0.47603	4.899000	0.63245	2.291000	0.77112	0.533000	0.62120	ATT	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450364.1		+	ENST00000343619.4	Missense_Mutation	SNP	17 : 40620067 - 40620067 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	347	62
LRRIQ4	344657	broad.mit.edu	37	3	169548369	169548369	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169548369C>A	ENST00000340806.6	+	3	1284	c.1284C>A	c.(1282-1284)tgC>tgA	p.C428*		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	428										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TTCTTGATTGCCGGCACAATT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	75	76			NA	NA	3		NA											NA				169548369		1889	4107	5996	SO:0001587	stop_gained				CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306	344657	344657			34298	protein-coding gene	gene with protein product	leucine rich repeat containing 64				NA		Standard	NM_001080460	NM_001080460	NA	Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.1284C>A	3.37:g.169548369C>A	ENSP00000342188:p.Cys428*	NA		37	CCDS46951.1	.	.	.	.	.	.	.	.	.	.	C	35	5.494819	0.96339	.	.	ENSG00000188306	ENST00000340806	.	.	.	5.69	2.04	0.26737	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	7.228	0.26026	0.0:0.5221:0.0:0.4779	.	.	.	.	X	428	.	ENSP00000342188:C428X	C	+	3	2	LRRIQ4	171031063	0.877000	0.30153	0.994000	0.49952	0.959000	0.62525	-0.176000	0.09811	0.547000	0.28938	0.655000	0.94253	TGC	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378698.1		+	ENST00000340806.6	Nonsense_Mutation	SNP	3 : 169548369 - 169548369 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	153	24
DHRS13	147015	broad.mit.edu	37	17	27228272	27228272	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27228272G>A	ENST00000394901.3	-	3	660	c.268C>T	c.(268-270)Cgg>Tgg	p.R90W	DHRS13_ENST00000426464.2_Missense_Mutation_p.R59W|DHRS13_ENST00000378895.4_Missense_Mutation_p.R140W			Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	140						extracellular region	binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			TGGTTCACCCGAAGCAGCAGG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	78	78			NA	NA	17		NA											NA				27228272		2203	4300	6503	SO:0001583	missense			BC015582	CCDS11246.2	17q11.2	2011-09-14			ENSG00000167536	ENSG00000167536	147015	147015	1.1.-.-	Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2	28326	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 7C, member 5				NA	12975309, 19027726	Standard	NM_144683	NM_144683	NA	Approved	MGC23280, SDR7C5	uc002hde.4	Q6UX07	OTTHUMG00000132678	ENST00000394901.3:c.268C>T	17.37:g.27228272G>A	ENSP00000378361:p.Arg90Trp	NA	Q96BH7	37		.	.	.	.	.	.	.	.	.	.	G	23.2	4.386410	0.82902	.	.	ENSG00000167536	ENST00000378895;ENST00000394901;ENST00000426464	D;D;D	0.90133	-2.62;-2.62;-2.62	5.58	5.58	0.84498	NAD(P)-binding domain (1);	0.118882	0.56097	D	0.000022	D	0.94255	0.8155	M	0.68317	2.08	0.41278	D	0.986899	D;D	0.89917	1.0;1.0	D;D	0.73708	0.967;0.981	D	0.94650	0.7838	10	0.87932	D	0	.	14.359	0.66757	0.0:0.2636:0.7364:0.0	.	59;140	B4DJC5;Q6UX07	.;DHR13_HUMAN	W	140;90;59	ENSP00000368173:R140W;ENSP00000378361:R90W;ENSP00000412826:R59W	ENSP00000368173:R140W	R	-	1	2	DHRS13	24252398	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.532000	0.67154	2.625000	0.88918	0.561000	0.74099	CGG	DHRS13-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000255953.1		-	ENST00000394901.3	Missense_Mutation	SNP	17 : 27228272 - 27228272 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	609	101
ADAR	103	broad.mit.edu	37	1	154575024	154575024	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154575024G>A	ENST00000368474.4	-	2	293	c.94C>T	c.(94-96)Cca>Tca	p.P32S	ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000292205.5_Missense_Mutation_p.P75S|ADAR_ENST00000471068.1_5'UTR	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	32					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GAAGATCCTGGCCCAGGCTGC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	45	45			NA	NA	1		NA											NA				154575024		2203	4300	6503	SO:0001583	missense			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	103	103	3.5.4.-		225	protein-coding gene	gene with protein product		146920	interferon-induced protein 4	IFI4, G1P1	NA	7972084	Standard	NM_001111	NM_001111	NA	Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.94C>T	1.37:g.154575024G>A	ENSP00000357459:p.Pro32Ser	NA	B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	37	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.401588	0.25291	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000529168	T;T;T	0.10960	2.82;2.83;2.84	4.56	1.43	0.22495	.	2.127140	0.01524	N	0.018491	T	0.02012	0.0063	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.20671	0.047;0.002;0.002;0.001	B;B;B;B	0.15484	0.013;0.005;0.005;0.003	T	0.38845	-0.9642	10	0.15952	T	0.53	0.7111	6.0133	0.19588	0.1653:0.0:0.6847:0.15	.	32;32;32;32	A2IBT1;P55265-3;P55265-2;P55265	.;.;.;DSRAD_HUMAN	S	75;32;27	ENSP00000292205:P75S;ENSP00000357459:P32S;ENSP00000431794:P27S	ENSP00000292205:P75S	P	-	1	0	ADAR	152841648	0.000000	0.05858	0.000000	0.03702	0.108000	0.19459	0.689000	0.25437	0.191000	0.20236	0.561000	0.74099	CCA	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090691.2		-	ENST00000368474.4	Missense_Mutation	SNP	1 : 154575024 - 154575024 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	362	76
EIF2AK2	5610	broad.mit.edu	37	2	37365484	37365484	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37365484C>A	ENST00000233057.4	-	8	938	c.616G>T	c.(616-618)Ggt>Tgt	p.G206C	EIF2AK2_ENST00000405334.1_Missense_Mutation_p.G206C|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.G206C	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	206					evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				GAGAAGTCACCTTCAGATGAT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	117	116			NA	NA	2		NA											NA				37365484		2203	4300	6503	SO:0001583	missense			BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332	5610	5610			9437	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 83	176871	protein kinase, interferon-inducible double stranded RNA dependent	PRKR	NA	1351683	Standard	NM_002759	NM_001135651	NA	Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.616G>T	2.37:g.37365484C>A	ENSP00000233057:p.Gly206Cys	NA	A8K3P0|D6W584|Q52M43|Q9UIR4	37	CCDS1786.1	.	.	.	.	.	.	.	.	.	.	C	9.727	1.161239	0.21538	.	.	ENSG00000055332	ENST00000233057;ENST00000395127;ENST00000405334;ENST00000379156	T;T;T	0.75821	-0.92;-0.92;-0.97	3.68	1.3	0.21679	.	0.813962	0.10845	N	0.627788	T	0.53965	0.1829	N	0.14661	0.345	0.09310	N	1	P;P;P;P	0.43392	0.805;0.805;0.805;0.805	B;B;B;B	0.39185	0.293;0.285;0.285;0.198	T	0.46386	-0.9195	10	0.62326	D	0.03	-6.8153	5.5406	0.17036	0.0:0.2286:0.0:0.7714	.	206;206;206;206	Q8IW76;B7ZKK7;P19525;E9PC80	.;.;E2AK2_HUMAN;.	C	206	ENSP00000233057:G206C;ENSP00000378559:G206C;ENSP00000385014:G206C	ENSP00000233057:G206C	G	-	1	0	EIF2AK2	37218988	0.006000	0.16342	0.009000	0.14445	0.001000	0.01503	0.034000	0.13776	0.267000	0.21916	-0.416000	0.06073	GGT	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000218571.2		-	ENST00000233057.4	Missense_Mutation	SNP	2 : 37365484 - 37365484 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	429	69
COL6A6	131873	broad.mit.edu	37	3	130287198	130287198	+	Silent	SNP	C	C	T	rs72992282	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130287198C>T	ENST00000358511.6	+	5	2182	c.2151C>T	c.(2149-2151)ggC>ggT	p.G717G	COL6A6_ENST00000453409.2_Silent_p.G717G	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	717	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCACCAAGGGCGCCCGGCCCA	0.498		NA											C	0	0	NA	NA	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	0	0.0499	EXOME	NA	NA	7e-04	SNP								NA				0								C		10,3860		0,10,1925	86	89	88		2151	-1.1	1	3	dbSNP_130	88	0,8256		0,0,4128	no	coding-synonymous	COL6A6	NM_001102608.1		0,10,6053	TT,TC,CC	NA	0.0,0.2584,0.0825		717/2264	130287198	10,12116	1935	4128	6063	SO:0001819	synonymous_variant			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384	131873	131873		Collagens	27023	protein-coding gene	gene with protein product					NA		Standard	NM_001102608	NM_001102608	NA	Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2151C>T	3.37:g.130287198C>T		NA	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	37	CCDS46911.1																																																																																			COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356705.5		+	ENST00000358511.6	Silent	SNP	3 : 130287198 - 130287198 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	541	87
GSG1L	146395	broad.mit.edu	37	16	27840187	27840187	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27840187C>A	ENST00000447459.2	-	5	837	c.753G>T	c.(751-753)aaG>aaT	p.K251N	GSG1L_ENST00000380898.2_Missense_Mutation_p.K96N|GSG1L_ENST00000380897.3_Missense_Mutation_p.K96N|GSG1L_ENST00000395724.3_Missense_Mutation_p.K200N|GSG1L_ENST00000569166.1_Missense_Mutation_p.K96N	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like	251						integral to membrane				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						AGACCTTGCGCTTGTGCCGGA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	76	85			NA	NA	16		NA											NA				27840187		2197	4300	6497	SO:0001583	missense			AK128775	CCDS10631.1, CCDS45450.1	16p11.2	2014-01-20			ENSG00000169181	ENSG00000169181	146395	146395			28283	protein-coding gene	gene with protein product					NA	22813734	Standard	NM_144675	NM_001109763	NA	Approved	MGC18079, PRO19651, KTSR5831	uc002doz.2	Q6UXU4	OTTHUMG00000131676	ENST00000447459.2:c.753G>T	16.37:g.27840187C>A	ENSP00000394954:p.Lys251Asn	NA	Q7Z6F8|Q8TB81	37	CCDS45450.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440517	0.63067	.	.	ENSG00000169181	ENST00000447459;ENST00000395724;ENST00000380898;ENST00000380897	T;T	0.35421	1.31;1.31	5.24	1.57	0.23409	.	0.000000	0.85682	D	0.000000	T	0.43055	0.1230	L	0.40543	1.245	0.51233	D	0.999918	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.78314	0.973;0.982;0.991	T	0.20107	-1.0285	10	0.42905	T	0.14	3.1709	6.2651	0.20922	0.0:0.5726:0.14:0.2874	.	200;96;251	Q6UXU4-3;Q6UXU4-4;Q6UXU4	.;.;GSG1L_HUMAN	N	251;200;96;96	ENSP00000394954:K251N;ENSP00000379074:K200N	ENSP00000370282:K96N	K	-	3	2	GSG1L	27747688	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.093000	0.41710	0.539000	0.28788	0.650000	0.86243	AAG	GSG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000433832.2		-	ENST00000447459.2	Missense_Mutation	SNP	16 : 27840187 - 27840187 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	59
FANCM	57697	broad.mit.edu	37	14	45667953	45667953	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45667953C>T	ENST00000542564.2	+	21	5823	c.5745C>T	c.(5743-5745)acC>acT	p.T1915T	FANCM_ENST00000267430.5_Silent_p.T1941T			Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1941	Interaction with FAAP24 and EME1.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAGAAGAAACCGCAGATTTGC	0.413		NA						Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	87	87			NA	NA	14		NA											NA				45667953		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790	57697	57697		Fanconi anemia, complementation groups	23168	protein-coding gene	gene with protein product		609644	KIAA1596	KIAA1596	NA	10997877, 16116422	Standard	XM_048128	NM_020937	NA	Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000542564.2:c.5745C>T	14.37:g.45667953C>T		NA	Q3YFH9|Q8N9X6|Q9HCH6	37		.	.	.	.	.	.	.	.	.	.	T	11.16	1.557919	0.27827	.	.	ENSG00000187790	ENST00000554809	.	.	.	5.7	-2.24	0.06909	.	.	.	.	.	T	0.37999	0.1024	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26985	-1.0087	4	.	.	.	.	0.468	0.00527	0.3728:0.2053:0.1324:0.2895	.	.	.	.	C	909	.	.	R	+	1	0	FANCM	44737703	0.213000	0.23551	0.955000	0.39395	0.996000	0.88848	-0.980000	0.03770	-1.052000	0.03222	-0.269000	0.10298	CGC	FANCM-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000410475.1		+	ENST00000542564.2	Silent	SNP	14 : 45667953 - 45667953 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	477	83
ZNF445	353274	broad.mit.edu	37	3	44497024	44497024	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44497024C>T	ENST00000396077.2	-	3	365	c.18G>A	c.(16-18)tgG>tgA	p.W6*	ZNF445_ENST00000425708.2_Nonsense_Mutation_p.W6*	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	6					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		AGGCAGCATGCCACCTGCCTG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	44	44			NA	NA	3		NA											NA				44497024		2203	4300	6503	SO:0001587	stop_gained			AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219	353274	353274		Zinc fingers, C2H2-type, -, -, -	21018	protein-coding gene	gene with protein product			zinc finger protein 168	ZNF168	NA	7814019	Standard	NM_181489	NM_181489	NA	Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.18G>A	3.37:g.44497024C>T	ENSP00000379387:p.Trp6*	NA	Q3MJD1	37	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876041	0.72180	.	.	ENSG00000185219	ENST00000425708;ENST00000396077;ENST00000340674;ENST00000430301	.	.	.	4.02	2.16	0.27623	.	0.195054	0.25935	N	0.027348	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	10.4626	0.44590	0.0:0.6173:0.3827:0.0	.	.	.	.	X	6	.	ENSP00000342436:W6X	W	-	3	0	ZNF445	44472028	0.086000	0.21541	0.614000	0.29051	0.414000	0.31173	0.126000	0.15769	0.621000	0.30232	0.563000	0.77884	TGG	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256647.2		-	ENST00000396077.2	Nonsense_Mutation	SNP	3 : 44497024 - 44497024 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	376	62
ZNF585A	199704	broad.mit.edu	37	19	37644430	37644430	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37644430T>C	ENST00000356958.4	-	5	629	c.371A>G	c.(370-372)tAt>tGt	p.Y124C	ZNF585A_ENST00000392157.2_Missense_Mutation_p.Y69C|ZNF585A_ENST00000355533.2_Missense_Mutation_p.Y69C|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.Y69C			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTCCCCAGGATACATTTTTTG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	163	162			NA	NA	19		NA											NA				37644430		2203	4300	6503	SO:0001583	missense			AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967	199704	199704		Zinc fingers, C2H2-type, -	26305	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152655	NM_199126	NA	Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.371A>G	19.37:g.37644430T>C	ENSP00000349440:p.Tyr124Cys	NA	Q8TE95|Q96MV3	37		.	.	.	.	.	.	.	.	.	.	T	13.61	2.288427	0.40494	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.28255	3.29;3.29;3.29;1.62	3.53	3.53	0.40419	.	0.468661	0.15806	U	0.243722	T	0.21022	0.0506	N	0.19112	0.55	0.30995	N	0.721005	B	0.02656	0.0	B	0.04013	0.001	T	0.15665	-1.0429	10	0.87932	D	0	.	11.444	0.50112	0.0:0.0:0.0:1.0	.	124	Q6P3V2	Z585A_HUMAN	C	124;69;69;69	ENSP00000349440:Y124C;ENSP00000292841:Y69C;ENSP00000375998:Y69C;ENSP00000347724:Y69C	ENSP00000292841:Y69C	Y	-	2	0	ZNF585A	42336270	0.070000	0.21116	0.014000	0.15608	0.001000	0.01503	2.843000	0.48238	1.578000	0.49821	0.533000	0.62120	TAT	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000457980.2		-	ENST00000356958.4	Missense_Mutation	SNP	19 : 37644430 - 37644430 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1136	229
USP37	57695	broad.mit.edu	37	2	219374752	219374752	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219374752C>T	ENST00000415516.1	-	10	1187	c.759G>A	c.(757-759)tgG>tgA	p.W253*	USP37_ENST00000258399.3_Nonsense_Mutation_p.W325*|USP37_ENST00000454775.1_Nonsense_Mutation_p.W325*|USP37_ENST00000418019.1_Nonsense_Mutation_p.W325*			Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	325					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TTGGTTTATTCCAGCCAGTGT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	115	114			NA	NA	2		NA											NA				219374752		2203	4300	6503	SO:0001587	stop_gained			AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913	57695	57695		Ubiquitin-specific peptidases	20063	protein-coding gene	gene with protein product			ubiquitin specific protease 37		NA	12838346	Standard	NM_020935	NM_020935	NA	Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000415516.1:c.759G>A	2.37:g.219374752C>T	ENSP00000400902:p.Trp253*	NA	A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	37		.	.	.	.	.	.	.	.	.	.	C	39	7.418739	0.98272	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.6154	20.0951	0.97834	0.0:1.0:0.0:0.0	.	.	.	.	X	325;325;253;325	.	ENSP00000258399:W325X	W	-	3	0	USP37	219082996	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.108000	0.64609	2.753000	0.94483	0.467000	0.42956	TGG	USP37-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000338136.2		-	ENST00000415516.1	Nonsense_Mutation	SNP	2 : 219374752 - 219374752 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	614	48
SCN4A	6329	broad.mit.edu	37	17	62026114	62026114	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62026114G>A	ENST00000578147.1	-	16	3077	c.3001C>T	c.(3001-3003)Cgc>Tgc	p.R1001C	SCN4A_ENST00000435607.1_Missense_Mutation_p.R1001C			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1001					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CAGGGCCAGCGCTGCACGCAG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/ARG	7,4341		0,7,2167	30	33	32		3001	3.1	1	17		32	0,8544		0,0,4272	yes	missense	SCN4A	NM_000334.4	180	0,7,6439	AA,AG,GG	NA	0.0,0.161,0.0543	probably-damaging	1001/1837	62026114	7,12885	2174	4272	6446	SO:0001583	missense			U24693		17q23.3	2012-02-26	2007-01-23				6329	6329		Sodium channels, Voltage-gated ion channels / Sodium channels	10591	protein-coding gene	gene with protein product		603967		HYKPP	NA	1654742, 1659948, 16382098	Standard	NM_000334	XM_005257566	NA	Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000578147.1:c.3001C>T	17.37:g.62026114G>A	ENSP00000463963:p.Arg1001Cys	NA	Q15478|Q16447|Q7Z6B1	37		.	.	.	.	.	.	.	.	.	.	G	14.53	2.561949	0.45590	0.00161	0.0	ENSG00000007314	ENST00000435607	D	0.86956	-2.19	4.16	3.09	0.35607	Sodium ion transport-associated (1);	0.112431	0.56097	D	0.000024	D	0.92133	0.7506	M	0.87617	2.895	0.58432	D	0.999993	D	0.89917	1.0	D	0.65874	0.939	D	0.90801	0.4694	10	0.38643	T	0.18	.	9.4304	0.38606	0.0:0.0:0.6236:0.3764	.	1001	P35499	SCN4A_HUMAN	C	1001	ENSP00000396320:R1001C	ENSP00000396320:R1001C	R	-	1	0	SCN4A	59379846	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	2.528000	0.45624	2.324000	0.78689	0.313000	0.20887	CGC	SCN4A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000444562.1		-	ENST00000578147.1	Missense_Mutation	SNP	17 : 62026114 - 62026114 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	151	26
DNAH1	25981	broad.mit.edu	37	3	52404631	52404631	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52404631C>T	ENST00000420323.2	+	40	6658	c.6397C>T	c.(6397-6399)Ctc>Ttc	p.L2133F		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2133					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGGCTAAGGCTCAAGATGGA	0.627		NA											C	1	5e-04	0.002	NA	2184	NA	0.9997	,	,	NA	3e-04	NA	NA	NA	6e-04	0.7805	EXOME	NA	NA	7e-04	SNP								NA				0													29	31	31			NA	NA	3		NA											NA				52404631		1974	4140	6114	SO:0001583	missense			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841	25981	25981		Axonemal dyneins	2940	protein-coding gene	gene with protein product		603332	dynein, axonemal, heavy polypeptide 1		NA	8812413, 9256245	Standard	NM_015512	NM_015512	NA	Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.6397C>T	3.37:g.52404631C>T	ENSP00000401514:p.Leu2133Phe	NA	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	37	CCDS46842.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.69	1.713048	0.30413	.	.	ENSG00000114841	ENST00000420323	T	0.23348	1.91	5.0	-7.62	0.01294	.	2.801390	0.01128	N	0.005936	T	0.16557	0.0398	L	0.39898	1.24	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24404	-1.0161	10	0.56958	D	0.05	.	1.2459	0.01973	0.2984:0.1958:0.3185:0.1873	.	2133	C9JXH6	.	F	2133	ENSP00000401514:L2133F	ENSP00000401514:L2133F	L	+	1	0	DNAH1	52379671	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.234000	0.09028	-0.885000	0.03971	-1.478000	0.00992	CTC	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350816.1		+	ENST00000420323.2	Missense_Mutation	SNP	3 : 52404631 - 52404631 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	109	16
SP100	6672	broad.mit.edu	37	2	231379934	231379934	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231379934C>T	ENST00000264052.5	+	25	2574	c.2219C>T	c.(2218-2220)gCg>gTg	p.A740V	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	740					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ATGGCAAAGGCGGACAAGGCC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	53	52			NA	NA	2		NA											NA				231379934		2203	4298	6501	SO:0001583	missense			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066	6672	6672		Zinc fingers, PHD-type	11206	protein-coding gene	gene with protein product		604585	nuclear antigen Sp100		NA	2258622, 8695863	Standard	NM_003113	NM_001080391	NA	Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.2219C>T	2.37:g.231379934C>T	ENSP00000264052:p.Ala740Val	NA	E9PH61|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	37	CCDS2477.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.466350	0.26335	.	.	ENSG00000067066	ENST00000264052	T	0.15139	2.45	0.158	0.158	0.14942	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.14270	0.0345	L	0.54908	1.71	0.80722	D	1	B	0.23377	0.084	B	0.13407	0.009	T	0.06899	-1.0801	9	0.59425	D	0.04	.	6.0348	0.19702	0.0:0.9995:0.0:5.0E-4	.	740	P23497	SP100_HUMAN	V	740	ENSP00000264052:A740V	ENSP00000264052:A740V	A	+	2	0	SP100	231088178	0.770000	0.28543	0.015000	0.15790	0.015000	0.08874	0.844000	0.27654	0.202000	0.20498	0.205000	0.17691	GCG	SP100-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256914.2		+	ENST00000264052.5	Missense_Mutation	SNP	2 : 231379934 - 231379934 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	535	86
DMPK	1760	broad.mit.edu	37	19	46281893	46281893	+	Missense_Mutation	SNP	C	C	A	rs145501208	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46281893C>A	ENST00000354227.5	-	5	575	c.439G>T	c.(439-441)Gtc>Ttc	p.V147F	DMPK_ENST00000291270.4_Missense_Mutation_p.V147F|DMPK_ENST00000600757.1_Missense_Mutation_p.V157F|DMPK_ENST00000447742.2_Missense_Mutation_p.V147F|DMPK_ENST00000343373.4_Missense_Mutation_p.V157F|DMPK_ENST00000458663.2_Missense_Mutation_p.V147F			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	157	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		TACTCCATGACCAGGTACTGA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(35;307 869 9153 24033 28903)							NA				0													53	47	49			NA	NA	19		NA											NA				46281893		2203	4300	6503	SO:0001583	missense			L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					1760	1760	2.7.11.1		2933	protein-coding gene	gene with protein product	dystrophia myotonica 1, DM protein kinase, myotonin protein kinase A, myotonic dystrophy associated protein kinase, thymopoietin homolog	605377	dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)	DM1, DM	NA	1546325, 1546326	Standard	NM_004409	NM_001288765	NA	Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000354227.5:c.439G>T	19.37:g.46281893C>A	ENSP00000346168:p.Val147Phe	NA	Q16205|Q6P5Z6	37		.	.	.	.	.	.	.	.	.	.	c	25.0	4.591925	0.86953	.	.	ENSG00000104936	ENST00000458663;ENST00000342805;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000343373;ENST00000348168;ENST00000354227	T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49	4.84	3.81	0.43845	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.38164	N	0.001799	T	0.72676	0.3490	M	0.85299	2.745	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999;1.0;0.999;1.0	D;D;D;D;D;D;D;D	0.83275	0.995;0.983;0.983;0.984;0.984;0.99;0.985;0.996	T	0.76553	-0.2917	10	0.87932	D	0	.	10.7964	0.46464	0.0:0.907:0.0:0.093	.	147;147;173;147;147;147;194;157	Q09013-12;Q09013-16;G5E982;E5KR07;E5KR05;Q09013;Q59FU6;E5KR08	.;.;.;.;.;DMPK_HUMAN;.;.	F	147;173;147;147;147;157;157;147	ENSP00000401753:V147F;ENSP00000291270:V147F;ENSP00000413417:V147F;ENSP00000345997:V157F;ENSP00000346168:V147F	ENSP00000291270:V147F	V	-	1	0	DMPK	50973733	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.663000	0.61532	1.265000	0.44215	0.561000	0.74099	GTC	DMPK-003	KNOWN	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000460577.1		-	ENST00000354227.5	Missense_Mutation	SNP	19 : 46281893 - 46281893 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	178	26
MYO3B	140469	broad.mit.edu	37	2	171243770	171243770	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171243770G>T	ENST00000408978.4	+	14	1672	c.1529G>T	c.(1528-1530)aGa>aTa	p.R510I	MYO3B_ENST00000334231.6_Missense_Mutation_p.R519I|MYO3B_ENST00000409044.3_Missense_Mutation_p.R510I|MYO3B_ENST00000602629.1_3'UTR	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	510	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						ATGGGGGCAAGAATCTCTGAA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	83	84			NA	NA	2		NA											NA				171243770		1882	4134	6016	SO:0001583	missense				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909	140469	140469		Myosins / Myosin superfamily : Class III	15576	protein-coding gene	gene with protein product		610040			NA		Standard		NM_001083615	NA	Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1529G>T	2.37:g.171243770G>T	ENSP00000386213:p.Arg510Ile	NA	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	37	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875148	0.51695	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3	5.9	4.92	0.64577	Myosin head, motor domain (2);	0.041372	0.85682	D	0.000000	D	0.83644	0.5299	L	0.37466	1.105	0.58432	D	0.999998	P;B;P	0.44380	0.801;0.108;0.834	P;B;P	0.52598	0.476;0.061;0.703	T	0.79688	-0.1699	10	0.27785	T	0.31	.	3.9069	0.09186	0.3188:0.0:0.6812:0.0	.	510;510;510	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	I	510;510;509;519;519	ENSP00000386497:R510I;ENSP00000386213:R510I;ENSP00000446237:R519I;ENSP00000335100:R519I	ENSP00000314213:R509I	R	+	2	0	MYO3B	170952016	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.470000	0.66756	2.793000	0.96121	0.563000	0.77884	AGA	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333410.1		+	ENST00000408978.4	Missense_Mutation	SNP	2 : 171243770 - 171243770 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	610	103
ERP44	23071	broad.mit.edu	37	9	102747327	102747327	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:102747327G>A	ENST00000262455.6	-	11	1240	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	347					cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						AGTCAAATACGAATTGCTTGA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	86	88			NA	NA	9		NA											NA				102747327		2203	4300	6503	SO:0001819	synonymous_variant			AB011145	CCDS35082.1	9q22.33	2011-10-19	2009-02-23	2009-02-23	ENSG00000023318	ENSG00000023318	23071	23071		Protein disulfide isomerases	18311	protein-coding gene	gene with protein product	protein disulfide isomerase family A, member 10	609170	thioredoxin domain containing 4 (endoplasmic reticulum)	TXNDC4	NA	11847130	Standard	XM_088476	NM_015051	NA	Approved	KIAA0573, PDIA10	uc004bam.3	Q9BS26	OTTHUMG00000020363	ENST00000262455.6:c.1041C>T	9.37:g.102747327G>A		NA	O60319|Q4VXC1|Q5VWZ7|Q6UW14|Q8WX67	37	CCDS35082.1																																																																																			ERP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053402.1		-	ENST00000262455.6	Silent	SNP	9 : 102747327 - 102747327 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	174	35
PYGL	5836	broad.mit.edu	37	14	51378884	51378884	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51378884C>T	ENST00000216392.7	-	14	2090	c.1758G>A	c.(1756-1758)acG>acA	p.T586T	PYGL_ENST00000544180.2_Silent_p.T552T|PYGL_ENST00000532462.1_Silent_p.T586T	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	586					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	GGTTGTACATCGTGATCACAT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	151	158			NA	NA	14		NA											NA				51378884		2203	4300	6503	SO:0001819	synonymous_variant				CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	5836	5836	2.4.1.1	Glycogen phosphorylases	9725	protein-coding gene	gene with protein product	Hers disease, glycogen storage disease type VI, glycogen phosphorylase, liver form	613741	phosphorylase, glycogen; liver		NA	2877458	Standard	NM_002863	NM_002863	NA	Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.1758G>A	14.37:g.51378884C>T		NA	A6NDQ4|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	37	CCDS32080.1																																																																																			PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390654.3		-	ENST00000216392.7	Silent	SNP	14 : 51378884 - 51378884 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	755	152
RAB3GAP2	25782	broad.mit.edu	37	1	220384297	220384297	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220384297C>A	ENST00000358951.2	-	5	550	c.434G>T	c.(433-435)aGg>aTg	p.R145M		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	145					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TTATCCTTACCTCTTTTGGCT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	99	98			NA	NA	1		NA											NA				220384297		2203	4300	6503	SO:0001630	splice_region_variant			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873	25782	25782			17168	protein-coding gene	gene with protein product		609275			NA	15696165, 16532399, 24482476	Standard	NM_012414	NM_012414	NA	Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.434+1G>T	1.37:g.220384297C>A		NA	O75872|Q9HAB0|Q9UFJ7|Q9UQ15	37	CCDS31028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.8|25.8	4.675595|4.675595	0.88445|0.88445	.|.	.|.	ENSG00000118873|ENSG00000118873	ENST00000484658|ENST00000358951	.|T	.|0.34859	.|1.34	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.46580|0.46580	0.1400|0.1400	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.998	.|D;D	.|0.74674	.|0.98;0.984	T|T	0.34104|0.34104	-0.9842|-0.9842	5|9	.|.	.|.	.|.	.|.	18.5392|18.5392	0.91022|0.91022	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|145;145	.|Q9H2M9-2;Q9H2M9	.|.;RBGPR_HUMAN	D|M	46|145	.|ENSP00000351832:R145M	.|.	E|R	-|-	3|2	2|0	RAB3GAP2|RAB3GAP2	218450920|218450920	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.924000|0.924000	0.55760|0.55760	7.136000|7.136000	0.77285|0.77285	2.559000|2.559000	0.86315|0.86315	0.460000|0.460000	0.39030|0.39030	GAG|AGG	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090205.2	Missense_Mutation	-	ENST00000358951.2	Splice_Site	SNP	1 : 220384297 - 220384297 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	170	24
ENPP7	339221	broad.mit.edu	37	17	77709051	77709051	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77709051C>T	ENST00000328313.5	+	3	830	c.609C>T	c.(607-609)caC>caT	p.H203H		NM_178543.3	NP_848638.3	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	203					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCACGGGCCACAGGTACGGCC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	46	48			NA	NA	17		NA											NA				77709051		2203	4300	6503	SO:0001819	synonymous_variant			AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156	339221	339221			23764	protein-coding gene	gene with protein product	alkaline sphingomyelinase				NA	12885774	Standard	NM_178543	NM_178543	NA	Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.609C>T	17.37:g.77709051C>T		NA	Q6ZTS5|Q8IUS8	37	CCDS11763.1																																																																																			ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437038.1		+	ENST00000328313.5	Silent	SNP	17 : 77709051 - 77709051 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	325	52
TDRD1	56165	broad.mit.edu	37	10	115985896	115985896	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115985896C>T	ENST00000369280.1	+	22	3556	c.3096C>T	c.(3094-3096)acC>acT	p.T1032T	TDRD1_ENST00000369281.2_Silent_p.T918T|TDRD1_ENST00000251864.2_Silent_p.T1032T|TDRD1_ENST00000422662.1_Silent_p.T636T|TDRD1_ENST00000369282.1_Silent_p.T1032T			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1032	Tudor 4.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		ACATTGAAACCCTGCCTCTTT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	122	127			NA	NA	10		NA											NA				115985896		2203	4300	6503	SO:0001819	synonymous_variant			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627	56165	56165		Tudor domain containing	11712	protein-coding gene	gene with protein product	cancer/testis antigen 41.1	605796			NA	11279525	Standard		NM_198795	NA	Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.3096C>T	10.37:g.115985896C>T		NA	A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	37																																																																																				TDRD1-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000050457.2		+	ENST00000369280.1	Silent	SNP	10 : 115985896 - 115985896 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	428	85
DAW1	164781	broad.mit.edu	37	2	228758521	228758521	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228758521G>T	ENST00000373666.2	+	5	964	c.328G>T	c.(328-330)Gga>Tga	p.G110*	DAW1_ENST00000472604.1_3'UTR|DAW1_ENST00000545118.1_Nonsense_Mutation_p.G95*|DAW1_ENST00000309931.2_Nonsense_Mutation_p.G110*					dynein assembly factor with WDR repeat domains 1	NA											NA						CTTTATCACAGGAAGCTATGA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	92	95			NA	NA	2		NA											NA				228758521		2203	4300	6503	SO:0001587	stop_gained				CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977	164781	164781		WD repeat domain containing	26383	protein-coding gene	gene with protein product	outer row dynein assembly 16 homolog (Chlamydomonas)		WD repeat domain 69	WDR69	NA	20568242, 21953912	Standard	NM_178821	NM_178821	NA	Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000373666.2:c.328G>T	2.37:g.228758521G>T	ENSP00000362770:p.Gly110*	NA		37		.	.	.	.	.	.	.	.	.	.	G	37	6.537249	0.97646	.	.	ENSG00000123977	ENST00000373666;ENST00000309931;ENST00000545118	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.4891	0.90841	0.0:0.0:1.0:0.0	.	.	.	.	X	110;110;95	.	ENSP00000311899:G110X	G	+	1	0	WDR69	228466765	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	8.659000	0.91116	2.692000	0.91855	0.650000	0.86243	GGA	DAW1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000256899.3		+	ENST00000373666.2	Nonsense_Mutation	SNP	2 : 228758521 - 228758521 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	275	61
ADD2	119	broad.mit.edu	37	2	70918003	70918003	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70918003T>C	ENST00000264436.4	-	8	1208	c.764A>G	c.(763-765)gAc>gGc	p.D255G	ADD2_ENST00000407644.2_Missense_Mutation_p.D255G|AC007395.3_ENST00000457851.1_RNA|ADD2_ENST00000430656.1_Missense_Mutation_p.D271G|ADD2_ENST00000413157.2_Missense_Mutation_p.D255G|ADD2_ENST00000355733.3_Missense_Mutation_p.D255G	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	NA					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						ATAGGCCATGTCCCCCACCAG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	79	83			NA	NA	2		NA											NA				70918003		2203	4300	6503	SO:0001583	missense			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340	119	119			244	protein-coding gene	gene with protein product		102681			NA	1840603	Standard	NM_001617	NM_001617	NA	Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.764A>G	2.37:g.70918003T>C	ENSP00000264436:p.Asp255Gly	NA	A8K4P2|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	37	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.798004	0.90538	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000356565;ENST00000413157;ENST00000430656	T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92	5.43	5.43	0.79202	Class II aldolase/adducin, N-terminal (3);	0.099608	0.64402	D	0.000002	T	0.44705	0.1306	L	0.56280	1.765	0.58432	D	0.999995	D;B;B;D	0.60575	0.988;0.313;0.363;0.969	D;B;B;P	0.66979	0.948;0.087;0.217;0.69	T	0.38351	-0.9665	10	0.87932	D	0	-37.6637	13.4827	0.61345	0.0:0.0:0.0:1.0	.	271;255;255;255	B4DM17;P35612-4;P35612;P35612-3	.;.;ADDB_HUMAN;.	G	255;255;255;255;255;255;271	ENSP00000264436:D255G;ENSP00000384677:D255G;ENSP00000347972:D255G;ENSP00000388072:D255G;ENSP00000398112:D271G	ENSP00000264436:D255G	D	-	2	0	ADD2	70771511	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.879000	0.63100	2.277000	0.76020	0.528000	0.53228	GAC	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251918.4		-	ENST00000264436.4	Missense_Mutation	SNP	2 : 70918003 - 70918003 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	375	39
UCP3	7352	broad.mit.edu	37	11	73714966	73714966	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73714966G>A	ENST00000314032.4	-	6	1282	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	UCP3_ENST00000426995.2_Missense_Mutation_p.R244W|UCP3_ENST00000348534.4_Missense_Mutation_p.R142W	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	244					mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					TTCATATACCGGGTCTTCACC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	64	64			NA	NA	11		NA											NA				73714966		2200	4293	6493	SO:0001583	missense			AF001787	CCDS8229.1, CCDS44677.1	11q13.4	2013-05-22				ENSG00000175564	7352	7352		Solute carriers	12519	protein-coding gene	gene with protein product		602044			NA	9480760, 9196039	Standard	NM_003356	NM_003356	NA	Approved	SLC25A9	uc001our.3	P55916		ENST00000314032.4:c.730C>T	11.37:g.73714966G>A	ENSP00000323740:p.Arg244Trp	NA	O60475|Q96HL3	37	CCDS8229.1	.	.	.	.	.	.	.	.	.	.	G	34	5.379920	0.95945	.	.	ENSG00000175564	ENST00000314032;ENST00000348534;ENST00000426995	D;D;D	0.84589	-1.82;-1.87;-1.82	5.07	5.07	0.68467	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.96234	0.8772	H	0.99475	4.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98312	1.0524	10	0.87932	D	0	-0.9863	18.4155	0.90568	0.0:0.0:1.0:0.0	.	244	P55916	UCP3_HUMAN	W	244;142;244	ENSP00000323740:R244W;ENSP00000343615:R142W;ENSP00000392143:R244W	ENSP00000323740:R244W	R	-	1	2	UCP3	73392614	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	4.504000	0.60414	2.528000	0.85240	0.655000	0.94253	CGG	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398200.1		-	ENST00000314032.4	Missense_Mutation	SNP	11 : 73714966 - 73714966 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	485	90
FAT4	79633	broad.mit.edu	37	4	126242264	126242264	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126242264G>T	ENST00000394329.3	+	1	4711	c.4698G>T	c.(4696-4698)gaG>gaT	p.E1566D		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1566	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TAGAGTATGAGATCATCAATG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	130	131			NA	NA	4		NA											NA				126242264		2019	4201	6220	SO:0001583	missense			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159	79633	79633		Cadherins / Cadherin-related	23109	protein-coding gene	gene with protein product	cadherin-related family member 11	612411	FAT tumor suppressor homolog 4 (Drosophila)		NA	15003449	Standard	NM_024582	NM_024582	NA	Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4698G>T	4.37:g.126242264G>T	ENSP00000377862:p.Glu1566Asp	NA	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148265	0.57151	.	.	ENSG00000196159	ENST00000394329	T	0.52526	0.66	4.35	4.35	0.52113	Cadherin (4);Cadherin-like (1);	0.000000	0.34411	U	0.003993	T	0.56046	0.1959	L	0.45422	1.42	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.47787	-0.9090	10	0.23891	T	0.37	.	10.7952	0.46455	0.1381:0.0:0.8619:0.0	.	1566	Q6V0I7	FAT4_HUMAN	D	1566	ENSP00000377862:E1566D	ENSP00000377862:E1566D	E	+	3	2	FAT4	126461714	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	0.768000	0.26590	2.420000	0.82092	0.655000	0.94253	GAG	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256765.2		+	ENST00000394329.3	Missense_Mutation	SNP	4 : 126242264 - 126242264 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	897	159
BOD1L1	259282	broad.mit.edu	37	4	13604071	13604071	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13604071T>G	ENST00000040738.5	-	10	4588	c.4453A>C	c.(4453-4455)Agt>Cgt	p.S1485R		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1485							DNA binding				NA						CTTCCAGCACTGGTGTCTACC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	74	80			NA	NA	4		NA											NA				13604071		2203	4300	6503	SO:0001583	missense			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219	259282	259282			31792	protein-coding gene	gene with protein product			family with sequence similarity 44, member A, biorientation of chromosomes in cell division 1-like	FAM44A, BOD1L	NA		Standard	NM_148894	XM_005248150	NA	Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.4453A>C	4.37:g.13604071T>G	ENSP00000040738:p.Ser1485Arg	NA	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	37	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	T	18.72	3.683646	0.68157	.	.	ENSG00000038219	ENST00000040738	T	0.16457	2.34	5.37	5.37	0.77165	.	0.094439	0.46145	D	0.000305	T	0.30355	0.0762	L	0.34521	1.04	0.43080	D	0.994734	D	0.89917	1.0	D	0.83275	0.996	T	0.02512	-1.1148	10	0.39692	T	0.17	-8.4343	13.9338	0.64012	0.0:0.0:0.0:1.0	.	1485	Q8NFC6	BOD1L_HUMAN	R	1485	ENSP00000040738:S1485R	ENSP00000040738:S1485R	S	-	1	0	BOD1L	13213169	1.000000	0.71417	1.000000	0.80357	0.526000	0.34562	4.896000	0.63222	2.035000	0.60131	0.528000	0.53228	AGT	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207321.1		-	ENST00000040738.5	Missense_Mutation	SNP	4 : 13604071 - 13604071 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	198	44
FLII	2314	broad.mit.edu	37	17	18149700	18149700	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18149700C>T	ENST00000327031.4	-	24	3353	c.3128G>A	c.(3127-3129)gGc>gAc	p.G1043D	FLII_ENST00000578558.1_Intron|FLII_ENST00000545457.2_Missense_Mutation_p.G988D|FLII_ENST00000579294.1_Missense_Mutation_p.G1032D|FLII_ENST00000379450.4_Missense_Mutation_p.G957D	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	1043					multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CTTCCTCTTGCCCCGGTGGAT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	142	143			NA	NA	17		NA											NA				18149700		2203	4299	6502	SO:0001583	missense			U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731	2314	2314			3750	protein-coding gene	gene with protein product		600362	flightless I (Drosophila) homolog		NA	7825574	Standard	NM_002018	NM_002018	NA	Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.3128G>A	17.37:g.18149700C>T	ENSP00000324573:p.Gly1043Asp	NA		37	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962362	0.92791	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T	0.24350	1.86;1.86	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.58566	0.2131	M	0.86178	2.8	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.87578	0.996;0.996;0.998;0.989	T	0.64110	-0.6484	10	0.72032	D	0.01	-30.6298	19.4312	0.94768	0.0:1.0:0.0:0.0	.	957;957;1043;1012	E7EPM0;B4DIL0;Q13045;B4DIX0	.;.;FLII_HUMAN;.	D	1043;922;957	ENSP00000324573:G1043D;ENSP00000368763:G957D	ENSP00000324573:G1043D	G	-	2	0	FLII	18090425	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	7.116000	0.77119	2.601000	0.87937	0.643000	0.83706	GGC	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132032.2		-	ENST00000327031.4	Missense_Mutation	SNP	17 : 18149700 - 18149700 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1131	204
BTN3A2	11118	broad.mit.edu	37	6	26370752	26370752	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26370752C>T	ENST00000356386.2	+	5	824	c.636C>T	c.(634-636)ggC>ggT	p.G212G	BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000377708.2_Silent_p.G212G|BTN3A2_ENST00000396948.1_Silent_p.G212G|BTN3A2_ENST00000527422.1_Silent_p.G212G|BTN3A2_ENST00000396934.3_Silent_p.G189G|BTN3A2_ENST00000508906.2_Silent_p.G170G	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	212				RG -> KS (in Ref. 3; AAF76140).		integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						TCATGAGAGGCGGCTCCGGGG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	138	139			NA	NA	6		NA											NA				26370752		2203	4300	6503	SO:0001819	synonymous_variant			U90546	CCDS4605.1, CCDS56399.1, CCDS56400.1	6p22.1	2014-01-14			ENSG00000186470	ENSG00000186470	11118	11118		Immunoglobulin superfamily / V-set domain containing, Butyrophilins	1139	protein-coding gene	gene with protein product		613594			NA	9149941	Standard		NM_007047	NA	Approved	BTN3.2	uc010jqi.2	P78410	OTTHUMG00000014450	ENST00000356386.2:c.636C>T	6.37:g.26370752C>T		NA	O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	37	CCDS4605.1																																																																																			BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040113.2		+	ENST00000356386.2	Silent	SNP	6 : 26370752 - 26370752 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	681	128
ROBO2	6092	broad.mit.edu	37	3	77147265	77147265	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:77147265G>A	ENST00000332191.8	+	2	218	c.162G>A	c.(160-162)gcG>gcA	p.A54A	ROBO2_ENST00000461745.1_Silent_p.A54A|ROBO2_ENST00000487694.3_Silent_p.A70A			Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	54	Ig-like C2-type 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACTGCAAGGCGGAGGGCCGGC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	59	57			NA	NA	3		NA											NA				77147265		1980	4165	6145	SO:0001819	synonymous_variant			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008	6092	6092		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	10250	protein-coding gene	gene with protein product		602431	roundabout (axon guidance receptor, Drosophila) homolog 2		NA	9458045	Standard	XM_031246	NM_002942	NA	Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000332191.8:c.162G>A	3.37:g.77147265G>A		NA	O43608|Q19AB4	37																																																																																				ROBO2-003	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000352601.1		+	ENST00000332191.8	Silent	SNP	3 : 77147265 - 77147265 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	238	13
ZNF382	84911	broad.mit.edu	37	19	37117875	37117875	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37117875A>C	ENST00000435416.1	+	3	2568	c.1073A>C	c.(1072-1074)aAg>aCg	p.K358T	ZNF382_ENST00000423582.1_Missense_Mutation_p.K310T|ZNF382_ENST00000292928.2_Missense_Mutation_p.K359T|ZNF382_ENST00000439428.1_Missense_Mutation_p.K358T			Q96SR6	ZN382_HUMAN	zinc finger protein 382	359	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GATTGTGGGAAGTCCTTCCGC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	79	79			NA	NA	19		NA											NA				37117875		2203	4300	6503	SO:0001583	missense			AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298	84911	84911		Zinc fingers, C2H2-type, -	17409	protein-coding gene	gene with protein product		609516			NA		Standard	NM_032825	NM_032825	NA	Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000435416.1:c.1073A>C	19.37:g.37117875A>C	ENSP00000410113:p.Lys358Thr	NA	A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	37		.	.	.	.	.	.	.	.	.	.	A	19.52	3.843785	0.71488	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	4.47	4.47	0.54385	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44285	D	0.000477	T	0.56108	0.1963	M	0.89534	3.04	0.39365	D	0.965996	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.76575	0.988;0.988;0.972	T	0.67169	-0.5738	10	0.87932	D	0	.	12.0011	0.53230	1.0:0.0:0.0:0.0	.	358;358;359	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	T	310;359;358;358	ENSP00000389722:K310T;ENSP00000292928:K359T;ENSP00000407593:K358T;ENSP00000410113:K358T	ENSP00000292928:K359T	K	+	2	0	ZNF382	41809715	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.683000	0.61679	2.007000	0.58848	0.482000	0.46254	AAG	ZNF382-004	KNOWN	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000340399.1		+	ENST00000435416.1	Missense_Mutation	SNP	19 : 37117875 - 37117875 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	443	27
NOTCH4	4855	broad.mit.edu	37	6	32171927	32171927	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32171927C>T	ENST00000375023.3	-	19	3243	c.3105G>A	c.(3103-3105)ctG>ctA	p.L1035L		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1035	EGF-like 26.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TGTGTCCAGGCAGACACTGGC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	41	46			NA	NA	6		NA											NA				32171927		1510	2707	4217	SO:0001819	synonymous_variant				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301	4855	4855		Ankyrin repeat domain containing	7884	protein-coding gene	gene with protein product		164951	Notch (Drosophila) homolog 4, Notch homolog 4 (Drosophila)	INT3	NA	7835890	Standard		NM_004557	NA	Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.3105G>A	6.37:g.32171927C>T		NA	B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	37	CCDS34420.1																																																																																			NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076045.2		-	ENST00000375023.3	Silent	SNP	6 : 32171927 - 32171927 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	186	29
USP34	9736	broad.mit.edu	37	2	61575613	61575613	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61575613T>G	ENST00000398571.2	-	15	1753	c.1677A>C	c.(1675-1677)gaA>gaC	p.E559D		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	559					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CCTGCATGGATTCCTGTATTT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	94	95			NA	NA	2		NA											NA				61575613		1911	4135	6046	SO:0001583	missense			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464	9736	9736		Ubiquitin-specific peptidases	20066	protein-coding gene	gene with protein product		615295	ubiquitin specific protease 34		NA	12838346	Standard		NM_014709	NA	Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.1677A>C	2.37:g.61575613T>G	ENSP00000381577:p.Glu559Asp	NA	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.293336	0.80914	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.03889	3.77	6.07	2.41	0.29592	.	0.000000	0.85682	D	0.000000	T	0.04272	0.0118	L	0.36672	1.1	0.47094	D	0.99931	B	0.32918	0.39	B	0.32211	0.142	T	0.51849	-0.8653	10	0.22109	T	0.4	.	10.0399	0.42151	0.0:0.1917:0.0:0.8083	.	559	Q70CQ2	UBP34_HUMAN	D	407;407;559	ENSP00000381577:E559D	ENSP00000263989:E407D	E	-	3	2	USP34	61429117	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	0.796000	0.26986	0.548000	0.28955	0.528000	0.53228	GAA	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325650.4		-	ENST00000398571.2	Missense_Mutation	SNP	2 : 61575613 - 61575613 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	680	123
ST18	9705	broad.mit.edu	37	8	53071616	53071616	+	Missense_Mutation	SNP	C	C	T	rs140966554	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:53071616C>T	ENST00000276480.7	-	15	2331	c.1648G>A	c.(1648-1650)Gcc>Acc	p.A550T		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	550						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)				TGGGTGTGGGCGCCTGCACTA	0.483		NA											C	5	0.0023	0.0041	NA	2184	0.0017	0.9999	,	,	NA	0.0026	0.0026	NA	NA	0.0023	0.9717	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				0								C	THR/ALA	17,4389	25.3+/-52.1	0,17,2186	86	94	91		1648	6.1	1	8	dbSNP_134	91	0,8600		0,0,4300	yes	missense	ST18	NM_014682.2	58	0,17,6486	TT,TC,CC	NA	0.0,0.3858,0.1307	probably-damaging	550/1048	53071616	17,12989	2203	4300	6503	SO:0001583	missense			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.1648G>A	8.37:g.53071616C>T	ENSP00000276480:p.Ala550Thr	NA	Q17RY1	37	CCDS6149.1	5	0.0022893772893772895	2	0.0040650406504065045	0	0.0	1	0.0017482517482517483	2	0.002638522427440633	C	22.7	4.326388	0.81690	0.003858	0.0	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.50001	0.76;0.76	6.07	6.07	0.98685	Myelin transcription factor 1 (1);	0.282281	0.41294	D	0.000916	T	0.68063	0.2960	M	0.70595	2.14	0.41098	D	0.985641	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.977	T	0.58999	-0.7536	10	0.13470	T	0.59	-18.3711	20.6439	0.99570	0.0:1.0:0.0:0.0	.	550;550	E5RHS3;O60284	.;ST18_HUMAN	T	550	ENSP00000276480:A550T;ENSP00000428521:A550T	ENSP00000276480:A550T	A	-	1	0	ST18	53234169	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.517000	0.53443	2.890000	0.99128	0.650000	0.86243	GCC	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377867.1		-	ENST00000276480.7	Missense_Mutation	SNP	8 : 53071616 - 53071616 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	631	109
ATR	545	broad.mit.edu	37	3	142168272	142168272	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142168272C>T	ENST00000350721.4	-	47	8055	c.7934G>A	c.(7933-7935)tGa>tAa	p.*2645*	ATR_ENST00000383101.3_Silent_p.*2581*	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	0					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AATTTCATTTCACATATATGG	0.313		NA						Other conserved DNA damage response genes						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	79	78			NA	NA	3		NA											NA				142168272		2203	4300	6503	SO:0001819	synonymous_variant			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054	545	545			882	protein-coding gene	gene with protein product	MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)	601215	ataxia telangiectasia and Rad3 related		NA	8978690, 8610130	Standard	NM_001184	NM_001184	NA	Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.7934G>A	3.37:g.142168272C>T		NA	Q59HB2|Q7KYL3|Q93051|Q9BXK4	37	CCDS3124.1																																																																																			ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353995.2		-	ENST00000350721.4	Silent	SNP	3 : 142168272 - 142168272 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	65
VRTN	55237	broad.mit.edu	37	14	74824322	74824322	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74824322G>A	ENST00000256362.4	+	2	1077	c.836G>A	c.(835-837)gGc>gAc	p.G279D		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	279					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CGTGAACCTGGCCTCAGCTAC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	42	42			NA	NA	14		NA											NA				74824322		2203	4300	6503	SO:0001583	missense			AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980	55237	55237			20223	protein-coding gene	gene with protein product			chromosome 14 open reading frame 115, vertebrae development homolog (pig)	C14orf115	NA	21232157	Standard	NM_018228	NM_018228	NA	Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.836G>A	14.37:g.74824322G>A	ENSP00000256362:p.Gly279Asp	NA	Q9NVC7	37	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.607874	0.28623	.	.	ENSG00000133980	ENST00000256362	T	0.45668	0.89	5.2	3.24	0.37175	.	0.281816	0.30630	N	0.009214	T	0.43456	0.1248	L	0.58583	1.82	0.31997	N	0.603875	D	0.53619	0.961	P	0.55749	0.783	T	0.48007	-0.9072	10	0.11182	T	0.66	-4.3903	4.7827	0.13210	0.3285:0.0:0.6715:0.0	.	279	Q9H8Y1	VRTN_HUMAN	D	279	ENSP00000256362:G279D	ENSP00000256362:G279D	G	+	2	0	VRTN	73894075	1.000000	0.71417	0.967000	0.41034	0.184000	0.23303	3.071000	0.50041	1.432000	0.47375	0.561000	0.74099	GGC	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412339.1		+	ENST00000256362.4	Missense_Mutation	SNP	14 : 74824322 - 74824322 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	431	47
EVC2	132884	broad.mit.edu	37	4	5586544	5586544	+	Missense_Mutation	SNP	G	G	A	rs116502852	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5586544G>A	ENST00000310917.2	-	17	3354	c.2623C>T	c.(2623-2625)Cgg>Tgg	p.R875W	EVC2_ENST00000344938.1_Missense_Mutation_p.R955W|EVC2_ENST00000344408.5_Missense_Mutation_p.R955W	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	955						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GCCTCCATCCGCTGCACTCTC	0.607		NA											G	12	0.01	0.02	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0055	1	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0								G	TRP/ARG,TRP/ARG	83,4323	70.9+/-108.8	1,81,2121	75	77	76		2623,2863	3.1	1	4	dbSNP_132	76	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	EVC2	NM_001166136.1,NM_147127.4	101,101	1,82,6420	AA,AG,GG	NA	0.0116,1.8838,0.6459	probably-damaging,probably-damaging	875/1229,955/1309	5586544	84,12922	2203	4300	6503	SO:0001583	missense			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040	132884	132884			19747	protein-coding gene	gene with protein product		607261			NA	12136126, 12571802	Standard	NM_147127	NM_147127	NA	Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000310917.2:c.2623C>T	4.37:g.5586544G>A	ENSP00000311683:p.Arg875Trp	NA	Q86YT3|Q86YT4|Q8NG49	37	CCDS54718.1	12	0.005494505494505495	11	0.022357723577235773	1	0.0027624309392265192	0	0.0	0	0.0	G	15.36	2.809284	0.50421	0.018838	1.16E-4	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.74737	-0.87;-0.86;-0.87	4.95	3.12	0.35913	.	0.432330	0.24552	N	0.037551	T	0.50086	0.1595	N	0.19112	0.55	0.31202	N	0.699674	D	0.69078	0.997	P	0.50490	0.642	T	0.63014	-0.6731	10	0.37606	T	0.19	-17.2626	11.6721	0.51408	0.0:0.0:0.6665:0.3335	.	955	Q86UK5	LBN_HUMAN	W	955;875;955	ENSP00000339954:R955W;ENSP00000311683:R875W;ENSP00000342144:R955W	ENSP00000311683:R875W	R	-	1	2	EVC2	5637445	1.000000	0.71417	0.981000	0.43875	0.257000	0.26127	2.253000	0.43205	0.532000	0.28657	-0.399000	0.06403	CGG	EVC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000246819.3		-	ENST00000310917.2	Missense_Mutation	SNP	4 : 5586544 - 5586544 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	66
BMPER	168667	broad.mit.edu	37	7	34118487	34118487	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:34118487T>C	ENST00000297161.2	+	13	1471	c.1097T>C	c.(1096-1098)gTg>gCg	p.V366A	BMPER_ENST00000426693.1_Missense_Mutation_p.V366A	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	366	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GTTTGCACGGTGTTTGGAGAT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	74	73			NA	NA	7		NA											NA				34118487		2203	4300	6503	SO:0001583	missense				CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619	168667	168667			24154	protein-coding gene	gene with protein product	crossveinless-2	608699			NA	12897139, 14766204	Standard	NM_133468	NM_133468	NA	Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1097T>C	7.37:g.34118487T>C	ENSP00000297161:p.Val366Ala	NA	A8K1P8|Q8TF36	37	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.519696	0.85495	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.63417	-0.04;-0.04	5.97	5.97	0.96955	von Willebrand factor, type D domain (3);	0.000000	0.85682	D	0.000000	T	0.66268	0.2772	N	0.25245	0.725	0.80722	D	1	D	0.63046	0.992	D	0.72625	0.978	T	0.61618	-0.7026	10	0.15952	T	0.53	.	16.4473	0.83942	0.0:0.0:0.0:1.0	.	366	Q8N8U9	BMPER_HUMAN	A	366	ENSP00000297161:V366A;ENSP00000393950:V366A	ENSP00000297161:V366A	V	+	2	0	BMPER	34085012	1.000000	0.71417	0.961000	0.40146	0.992000	0.81027	7.698000	0.84413	2.281000	0.76405	0.533000	0.62120	GTG	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250570.2		+	ENST00000297161.2	Missense_Mutation	SNP	7 : 34118487 - 34118487 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	590	100
ADCK4	79934	broad.mit.edu	37	19	41198107	41198107	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41198107G>A	ENST00000324464.3	-	15	1769	c.1468C>T	c.(1468-1470)Cgc>Tgc	p.R490C	ADCK4_ENST00000243583.6_Missense_Mutation_p.R449C|ADCK4_ENST00000450541.1_Missense_Mutation_p.R449C	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	490						integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GCCAGCTTGCGGTGCAGGGCA	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	27	27			NA	NA	19		NA											NA				41198107		2197	4294	6491	SO:0001583	missense			AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815	79934	79934			19041	protein-coding gene	gene with protein product		615567			NA		Standard	NM_024876	NM_024876	NA	Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.1468C>T	19.37:g.41198107G>A	ENSP00000315118:p.Arg490Cys	NA	Q8TAJ1|Q9HA52	37	CCDS12562.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872838	0.91587	.	.	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	D;D;D	0.86562	-2.14;-1.5;-1.5	5.43	3.31	0.37934	.	0.051479	0.85682	N	0.000000	D	0.94948	0.8366	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94152	0.7406	10	0.87932	D	0	-16.2832	9.2545	0.37575	0.0764:0.0:0.7776:0.146	.	490;449	Q96D53;Q96D53-2	ADCK4_HUMAN;.	C	490;449;449	ENSP00000315118:R490C;ENSP00000412839:R449C;ENSP00000243583:R449C	ENSP00000243583:R449C	R	-	1	0	ADCK4	45889947	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.711000	0.84669	0.675000	0.31264	0.561000	0.74099	CGC	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462731.1		-	ENST00000324464.3	Missense_Mutation	SNP	19 : 41198107 - 41198107 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	76	18
SLC26A6	65010	broad.mit.edu	37	3	48670685	48670685	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48670685C>A	ENST00000455886.2	-	3	368	c.321G>T	c.(319-321)caG>caT	p.Q107H	SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000337000.8_Splice_Site_p.Q107H|SLC26A6_ENST00000383733.3_Splice_Site_p.Q107H|SLC26A6_ENST00000420764.2_Splice_Site_p.Q107H|SLC26A6_ENST00000358747.6_Splice_Site_p.Q86H|SLC26A6_ENST00000395550.2_Splice_Site_p.Q107H	NM_001281732.1	NP_001268661.1			solute carrier family 26 (anion exchanger), member 6	NA									SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GTGGCTCACCCTGCGGAAGCT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(13;369 479 28271 30152 44026)							NA				0													30	36	34			NA	NA	3		NA											NA				48670685		2063	4199	6262	SO:0001630	splice_region_variant			AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697	65010	65010		Solute carriers	14472	protein-coding gene	gene with protein product	pendrin-like protein 1, pendrin L1, sulfate anion transporter, anion transporter 1	610068	solute carrier family 26, member 6		NA	11087667, 11247665	Standard	NM_022911	NM_022911	NA	Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000455886.2:c.322+1G>T	3.37:g.48670685C>A		NA		37		.	.	.	.	.	.	.	.	.	.	C	19.38	3.816124	0.70912	.	.	ENSG00000225697	ENST00000420764;ENST00000395550;ENST00000383733;ENST00000337000;ENST00000447978;ENST00000358747;ENST00000455886;ENST00000431739;ENST00000426599	D;D;D;D;D;D;D;D	0.95238	-3.17;-3.17;-3.17;-3.65;-3.17;-3.17;-3.17;-3.17	4.84	2.06	0.26882	.	.	.	.	.	D	0.97558	0.9200	H	0.95043	3.615	0.39669	D	0.970724	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;1.0;1.0;1.0;0.999	D	0.96489	0.9362	9	0.87932	D	0	.	8.4616	0.32931	0.0:0.6957:0.0:0.3043	.	107;107;107;107;107;3501	B4DMZ1;G3XAC1;Q9BXS9-2;Q548A7;Q9BXS9;Q5Y190	.;.;.;.;S26A6_HUMAN;.	H	107;107;107;107;107;86;107;107;107	ENSP00000404684:Q107H;ENSP00000378920:Q107H;ENSP00000373239:Q107H;ENSP00000337648:Q107H;ENSP00000351597:Q86H;ENSP00000401066:Q107H;ENSP00000401813:Q107H;ENSP00000405872:Q107H	ENSP00000307089:Q107H	Q	-	3	2	SLC26A6	48645689	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	0.877000	0.28106	0.245000	0.21373	0.655000	0.94253	CAG	SLC26A6-009	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000345045.1	Missense_Mutation	-	ENST00000455886.2	Splice_Site	SNP	3 : 48670685 - 48670685 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	104	21
FBLN1	2192	broad.mit.edu	37	22	45946495	45946495	+	Splice_Site	SNP	C	C	T	rs151076402	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45946495C>T	ENST00000327858.6	+	14	1792	c.1697C>T	c.(1696-1698)aCg>aTg	p.T566M	FBLN1_ENST00000340923.5_Splice_Site_p.T566I|FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000348697.2_Splice_Site_p.T566M|FBLN1_ENST00000442170.2_Splice_Site_p.T566M|FBLN1_ENST00000262722.7_Splice_Site_p.T566I|FBLN1_ENST00000402984.3_Splice_Site_p.T604I	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	566	EGF-like 9; calcium-binding.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCCGCAGCCACGTAAGTCCCT	0.612		NA											C	6	0.0027	0.01	0.01	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	0.0028	0.9775	LOWCOV,EXOME	NA	NA	0.0019	SNP								NA				0								C	ILE/THR,MET/THR,MET/THR,ILE/THR	20,4386	27.2+/-55.0	0,20,2183	86	78	81		1697,1697,1697,1697	3.8	1	22	dbSNP_134	81	0,8600		0,0,4300	yes	missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice	FBLN1	NM_001996.3,NM_006485.3,NM_006486.2,NM_006487.2	89,81,81,89	0,20,6483	TT,TC,CC	NA	0.0,0.4539,0.1538	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	566/684,566/602,566/704,566/567	45946495	20,12986	2203	4300	6503	SO:0001630	splice_region_variant				CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942	2192	2192		Fibulins	3600	protein-coding gene	gene with protein product		135820			NA	2269669, 1400330	Standard	NM_006486	NM_006485	NA	Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1697+1C>T	22.37:g.45946495C>T		NA	B0QY42|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	37	CCDS14067.1	6|6	0.0027472527472527475|0.0027472527472527475	4|4	0.008130081300813009|0.008130081300813009	2|2	0.0055248618784530384|0.0055248618784530384	0|0	0.0|0.0	0|0	0.0|0.0	C|C	13.03|13.03	2.115394|2.115394	0.37339|0.37339	0.004539|0.004539	0.0|0.0	ENSG00000077942|ENSG00000077942	ENST00000402984;ENST00000262722;ENST00000340923|ENST00000348697;ENST00000327858;ENST00000442170	D;D;D|D;D;D	0.92805|0.84146	-2.25;-3.11;-1.59|-1.7;-1.81;-1.77	4.78|4.78	3.76|3.76	0.43208|0.43208	.|Epidermal growth factor-like (1);	0.186482|0.186482	0.46145|0.46145	D|D	0.000315|0.000315	T|T	0.81597|0.81597	0.4856|0.4856	L|L	0.35288|0.35288	1.05|1.05	0.42767|0.42767	D|D	0.993825|0.993825	D;D|D;D	0.58268|0.89917	0.982;0.982|0.984;1.0	B;P|P;D	0.44623|0.69654	0.406;0.455|0.873;0.965	T|T	0.82770|0.82770	-0.0293|-0.0293	10|10	0.45353|0.46703	T|T	0.12|0.11	.|.	8.6471|8.6471	0.34011|0.34011	0.0:0.8257:0.0:0.1743|0.0:0.8257:0.0:0.1743	.|.	604;566|566;566	B1AHL2;P23142-4|P23142;B1AHL4	.;.|FBLN1_HUMAN;.	I|M	604;566;566|566	ENSP00000385521:T604I;ENSP00000262722:T566I;ENSP00000342212:T566I|ENSP00000262723:T566M;ENSP00000331544:T566M;ENSP00000393812:T566M	ENSP00000262722:T566I|ENSP00000331544:T566M	T|T	+|+	2|2	0|0	FBLN1|FBLN1	44325159|44325159	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.580000|0.580000	0.36256|0.36256	1.699000|1.699000	0.37804|0.37804	2.205000|2.205000	0.71048|0.71048	0.462000|0.462000	0.41574|0.41574	ACC;ACC;ACA|ACG	FBLN1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322287.1	Missense_Mutation	+	ENST00000327858.6	Splice_Site	SNP	22 : 45946495 - 45946495 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	559	94
PPP1CB	5500	broad.mit.edu	37	2	29004680	29004680	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29004680G>T	ENST00000395366.2	+	4	764	c.492G>T	c.(490-492)gtG>gtT	p.V164V	PPP1CB_ENST00000358506.2_Silent_p.V164V|PPP1CB_ENST00000296122.6_Silent_p.V164V	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	164					cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					CAGCCATTGTGGATGAGAAGA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	104	104			NA	NA	2		NA											NA				29004680		2203	4300	6503	SO:0001819	synonymous_variant				CCDS33169.1	2p23	2013-01-18	2010-03-05		ENSG00000213639	ENSG00000213639	5500	5500	3.1.3.16	Serine/threonine phosphatases / Protein phosphatase, catalytic subunits	9282	protein-coding gene	gene with protein product		600590	protein phosphatase 1, catalytic subunit, beta isoform		NA	8312365	Standard		NM_002709	NA	Approved	PP1B, PP-1B, PP1beta	uc002rmg.3	P62140	OTTHUMG00000152011	ENST00000395366.2:c.492G>T	2.37:g.29004680G>T		NA	B2R5V4|D6W565|P37140|Q5U087|Q6FG45	37	CCDS33169.1																																																																																			PPP1CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324841.1		+	ENST00000395366.2	Silent	SNP	2 : 29004680 - 29004680 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	492	97
SNX19	399979	broad.mit.edu	37	11	130748391	130748391	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130748391C>T	ENST00000265909.4	-	11	3474	c.2905G>A	c.(2905-2907)Gtt>Att	p.V969I	SNX19_ENST00000534726.1_Missense_Mutation_p.V209I|SNX19_ENST00000426933.2_Missense_Mutation_p.V137I|SNX19_ENST00000528555.1_Missense_Mutation_p.V349I|SNX19_ENST00000539184.1_Missense_Mutation_p.V412I|SNX19_ENST00000530356.1_Missense_Mutation_p.V349I|SNX19_ENST00000545537.1_Missense_Mutation_p.V209I|SNX19_ENST00000533318.1_5'UTR	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	969					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GACTCCTCAACAGAGGCACTG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	100	104			NA	NA	11		NA											NA				130748391		2201	4297	6498	SO:0001583	missense			D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451	399979	399979		Sorting nexins	21532	protein-coding gene	gene with protein product					NA		Standard	NM_014758	NM_014758	NA	Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.2905G>A	11.37:g.130748391C>T	ENSP00000265909:p.Val969Ile	NA		37	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.323966	0.24080	.	.	ENSG00000120451	ENST00000265909;ENST00000534726;ENST00000545537;ENST00000426933;ENST00000528555;ENST00000530356;ENST00000539184	T;T;T;T;T;T;T	0.32753	2.9;1.51;1.51;1.44;1.94;1.94;2.27	5.8	3.82	0.43975	.	0.919810	0.09182	N	0.837227	T	0.21468	0.0517	L	0.44542	1.39	0.09310	N	1	B;B	0.23249	0.082;0.049	B;B	0.18561	0.022;0.016	T	0.33471	-0.9867	10	0.13108	T	0.6	-0.3614	3.2157	0.06697	0.1693:0.4034:0.3277:0.0996	.	412;969	F5H5D1;Q92543	.;SNX19_HUMAN	I	969;209;209;137;349;349;412	ENSP00000265909:V969I;ENSP00000433699:V209I;ENSP00000437982:V209I;ENSP00000413345:V137I;ENSP00000435122:V349I;ENSP00000432307:V349I;ENSP00000443480:V412I	ENSP00000265909:V969I	V	-	1	0	SNX19	130253601	0.000000	0.05858	0.066000	0.19879	0.818000	0.46254	-0.194000	0.09559	1.440000	0.47531	0.655000	0.94253	GTT	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385649.1		-	ENST00000265909.4	Missense_Mutation	SNP	11 : 130748391 - 130748391 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	462	22
QRICH2	84074	broad.mit.edu	37	17	74289861	74289861	+	Missense_Mutation	SNP	G	G	A	rs141784144		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74289861G>A	ENST00000262765.5	-	4	628	c.449C>T	c.(448-450)cCg>cTg	p.P150L		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	150							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						ACGGGCCCTCGGCTGCTGCTG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	LEU/PRO	2,4404	4.2+/-10.8	0,2,2201	60	61	60		449	2.2	0.1	17	dbSNP_134	60	0,8600		0,0,4300	no	missense	QRICH2	NM_032134.1	98	0,2,6501	AA,AG,GG	NA	0.0,0.0454,0.0154	benign	150/1664	74289861	2,13004	2203	4300	6503	SO:0001583	missense			AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646	84074	84074			25326	protein-coding gene	gene with protein product					NA		Standard	NM_032134	NM_032134	NA	Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.449C>T	17.37:g.74289861G>A	ENSP00000262765:p.Pro150Leu	NA	A2RRE1|Q96LM3	37	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	G	6.431	0.447588	0.12223	4.54E-4	0.0	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.08546	3.08	3.23	2.25	0.28309	.	.	.	.	.	T	0.06735	0.0172	L	0.47190	1.495	0.22858	N	0.998644	B;B	0.24882	0.113;0.059	B;B	0.16722	0.016;0.005	T	0.41431	-0.9509	9	0.11485	T	0.65	-0.8082	6.4366	0.21827	0.1354:0.0:0.8646:0.0	.	150;150	B5MD94;Q9H0J4	.;QRIC2_HUMAN	L	150	ENSP00000262765:P150L	ENSP00000262765:P150L	P	-	2	0	QRICH2	71801456	0.001000	0.12720	0.056000	0.19401	0.031000	0.12232	0.176000	0.16782	0.930000	0.37217	0.563000	0.77884	CCG	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395140.1		-	ENST00000262765.5	Missense_Mutation	SNP	17 : 74289861 - 74289861 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	389	79
NAALAD2	10003	broad.mit.edu	37	11	89882186	89882186	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89882186T>G	ENST00000525171.1	+	4	424	c.394T>G	c.(394-396)Tca>Gca	p.S132A	NAALAD2_ENST00000375944.3_Missense_Mutation_p.S132A|NAALAD2_ENST00000534061.1_Missense_Mutation_p.S132A|NAALAD2_ENST00000321955.4_Missense_Mutation_p.S132A			Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	132					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTTCAAAACATCATACCTTGA	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	92	92			NA	NA	11		NA											NA				89882186		2199	4296	6495	SO:0001583	missense			AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	10003	10003	3.4.17.21		14526	protein-coding gene	gene with protein product	glutamate carboxypeptidase III	611636			NA	10085079	Standard	NM_005467	NM_005467	NA	Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000525171.1:c.394T>G	11.37:g.89882186T>G	ENSP00000435249:p.Ser132Ala	NA	B3KQR4|Q4VAM9	37		.	.	.	.	.	.	.	.	.	.	T	7.130	0.579740	0.13686	.	.	ENSG00000077616	ENST00000534061;ENST00000321955;ENST00000525171;ENST00000375944;ENST00000526637	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.37	2.96	0.34315	.	0.199984	0.34906	N	0.003590	T	0.33760	0.0874	L	0.48877	1.53	0.53688	D	0.999974	B;B;B;B;B	0.11235	0.001;0.001;0.0;0.003;0.004	B;B;B;B;B	0.17098	0.004;0.011;0.001;0.014;0.017	T	0.07693	-1.0759	9	.	.	.	-7.6689	10.4162	0.44322	0.2791:0.0:0.0:0.7209	.	132;132;132;132;132	Q4KKV4;E9PJV2;Q9Y3Q0;E9PKX5;Q8IUX3	.;.;NALD2_HUMAN;.;.	A	132;132;132;132;78	ENSP00000432481:S132A;ENSP00000320083:S132A;ENSP00000435249:S132A;ENSP00000365111:S132A;ENSP00000435670:S78A	.	S	+	1	0	NAALAD2	89521834	0.997000	0.39634	0.260000	0.24451	0.007000	0.05969	3.312000	0.51927	0.305000	0.22832	0.451000	0.29950	TCA	NAALAD2-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000394387.1		+	ENST00000525171.1	Missense_Mutation	SNP	11 : 89882186 - 89882186 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	674	146
ZC3H7B	23264	broad.mit.edu	37	22	41742154	41742154	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41742154G>T	ENST00000352645.4	+	14	1864	c.1607G>T	c.(1606-1608)aGc>aTc	p.S536I	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.S536I	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	552					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AAGCGCGGCAGCCTCACCATC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	80	87			NA	NA	22		NA											NA				41742154		2203	4300	6503	SO:0001583	missense				CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403	23264	23264		Zinc fingers, CCCH-type domain containing, Tetratricopeptide (TTC) repeat domain containing	30869	protein-coding gene	gene with protein product					NA	10470851, 11230166	Standard	NM_017590	NM_017590	NA	Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.1607G>T	22.37:g.41742154G>T	ENSP00000345793:p.Ser536Ile	NA	A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	37	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156390	0.57259	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.22539	1.95;1.95	5.36	4.28	0.50868	.	0.141156	0.64402	D	0.000007	T	0.20088	0.0483	L	0.46157	1.445	0.35808	D	0.823633	B	0.32731	0.382	B	0.35813	0.211	T	0.18461	-1.0336	10	0.56958	D	0.05	-32.0039	9.3375	0.38060	0.0788:0.145:0.7762:0.0	.	536	Q9UGR2-2	.	I	536	ENSP00000345793:S536I;ENSP00000263243:S536I	ENSP00000263243:S536I	S	+	2	0	ZC3H7B	40072100	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.625000	0.46452	2.523000	0.85059	0.555000	0.69702	AGC	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320696.1		+	ENST00000352645.4	Missense_Mutation	SNP	22 : 41742154 - 41742154 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	614	100
ATP8A1	10396	broad.mit.edu	37	4	42626570	42626570	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42626570C>A	ENST00000381668.5	-	4	577	c.346G>T	c.(346-348)Gag>Tag	p.E116*	ATP8A1_ENST00000264449.10_Nonsense_Mutation_p.E116*	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	116					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TCTATTATCTCTTTGATAGCT	0.264		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	41	41			NA	NA	4		NA											NA				42626570		2203	4297	6500	SO:0001587	stop_gained			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406	10396	10396		ATPases / P-type	13531	protein-coding gene	gene with protein product		609542	ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1		NA	10198212, 9548971	Standard	NM_006095	NM_006095	NA	Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.346G>T	4.37:g.42626570C>A	ENSP00000371084:p.Glu116*	NA	Q32M36|Q4W5J7|Q4W5P2	37	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	38	6.813806	0.97857	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8683	0.96840	0.0:1.0:0.0:0.0	.	.	.	.	X	116	.	ENSP00000264449:E116X	E	-	1	0	ATP8A1	42321327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.346000	0.79347	2.753000	0.94483	0.655000	0.94253	GAG	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216861.2		-	ENST00000381668.5	Nonsense_Mutation	SNP	4 : 42626570 - 42626570 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	225	24
COL27A1	85301	broad.mit.edu	37	9	117052362	117052362	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117052362G>A	ENST00000356083.3	+	46	4622	c.4231G>A	c.(4231-4233)Gca>Aca	p.A1411T		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1411	Collagen-like 13.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCAAGGCAAGGCAGGGGCCCC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	46	44			NA	NA	9		NA											NA				117052362		2203	4300	6503	SO:0001583	missense			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739	85301	85301		Collagens	22986	protein-coding gene	gene with protein product		608461			NA	12766169	Standard	NM_032888	NM_032888	NA	Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.4231G>A	9.37:g.117052362G>A	ENSP00000348385:p.Ala1411Thr	NA	Q66K43|Q96JF7	37	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.698490	0.48307	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.93488	-3.23	4.89	3.96	0.45880	.	.	.	.	.	D	0.82921	0.5142	N	0.08118	0	0.22571	N	0.998973	P	0.45044	0.849	B	0.39617	0.305	T	0.73206	-0.4056	9	0.13853	T	0.58	.	9.7579	0.40515	0.0:0.279:0.721:0.0	.	1411	Q8IZC6	CORA1_HUMAN	T	1411	ENSP00000348385:A1411T	ENSP00000348385:A1411T	A	+	1	0	COL27A1	116092183	0.971000	0.33674	0.993000	0.49108	0.922000	0.55478	0.880000	0.28159	2.249000	0.74217	0.491000	0.48974	GCA	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053763.1		+	ENST00000356083.3	Missense_Mutation	SNP	9 : 117052362 - 117052362 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	479	101
KDM8	79831	broad.mit.edu	37	16	27226239	27226239	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27226239A>G	ENST00000286096.4	+	4	881	c.708A>G	c.(706-708)ccA>ccG	p.P236P	KDM8_ENST00000567785.1_3'UTR|CTD-3203P2.1_ENST00000567108.1_RNA|KDM8_ENST00000441782.2_Silent_p.P274P|KDM8_ENST00000380948.2_Intron|KDM8_ENST00000568965.1_Intron	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8	236					G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				NA						GAACTGTCCCAGTGGAAGTTG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													189	152	165			NA	NA	16		NA											NA				27226239		2197	4300	6497	SO:0001819	synonymous_variant			AK023860	CCDS10627.1, CCDS45448.1	16p12.1	2012-03-28	2012-03-28	2012-03-28	ENSG00000155666	ENSG00000155666	79831	79831		Chromatin-modifying enzymes / K-demethylases	25840	protein-coding gene	gene with protein product		611917	jumonji domain containing 5	JMJD5	NA	20457893	Standard	NM_024773	NM_024773	NA	Approved	FLJ13798	uc010vcn.1	Q8N371	OTTHUMG00000131677	ENST00000286096.4:c.708A>G	16.37:g.27226239A>G		NA	B4DLU9|Q6VAK5|Q9H8B1	37	CCDS10627.1																																																																																			KDM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254580.3		+	ENST00000286096.4	Silent	SNP	16 : 27226239 - 27226239 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	499	22
TGM2	7052	broad.mit.edu	37	20	36775176	36775176	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36775176C>T	ENST00000361475.2	-	6	975	c.802G>A	c.(802-804)Ggc>Agc	p.G268S	TGM2_ENST00000536701.1_Missense_Mutation_p.G187S|TGM2_ENST00000536724.1_Missense_Mutation_p.G208S	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	268					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CGCTGGCAGCCGTGGTTCTTC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	33	35			NA	NA	20		NA											NA				36775176		2202	4297	6499	SO:0001583	missense			M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	7052	7052	2.3.2.13	Transglutaminases	11778	protein-coding gene	gene with protein product	C polypeptide, protein-glutamine-gamma-glutamyltransferase	190196	transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)		NA	7912692, 11390390	Standard	NM_198951	NM_004613	NA	Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.802G>A	20.37:g.36775176C>T	ENSP00000355330:p.Gly268Ser	NA	E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	37	CCDS13302.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400596	0.62177	.	.	ENSG00000198959	ENST00000361475;ENST00000536701;ENST00000536724;ENST00000373403	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	5.67	1.6	0.23607	.	0.494953	0.23620	N	0.046259	D	0.89410	0.6707	L	0.49455	1.56	0.23016	N	0.998427	P;D;P;P;P;D	0.67145	0.914;0.996;0.954;0.821;0.93;0.988	B;P;B;B;P;P	0.62298	0.409;0.9;0.325;0.409;0.544;0.847	T	0.80434	-0.1384	10	0.29301	T	0.29	-0.4431	8.4057	0.32614	0.0:0.6299:0.0:0.3701	.	208;187;268;268;208;268	F5H6P0;B4DIT7;P21980-3;P21980-2;B4DTN7;P21980	.;.;.;.;.;TGM2_HUMAN	S	268;187;208;268	ENSP00000355330:G268S;ENSP00000444701:G187S;ENSP00000437479:G208S;ENSP00000362502:G268S	ENSP00000355330:G268S	G	-	1	0	TGM2	36208590	0.000000	0.05858	0.116000	0.21606	0.788000	0.44548	-0.137000	0.10389	0.070000	0.16634	0.563000	0.77884	GGC	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079151.2		-	ENST00000361475.2	Missense_Mutation	SNP	20 : 36775176 - 36775176 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	252	15
PTPN6	5777	broad.mit.edu	37	12	7061307	7061307	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7061307A>G	ENST00000318974.9	+	3	537	c.293A>G	c.(292-294)tAc>tGc	p.Y98C	PTPN6_ENST00000447931.2_Missense_Mutation_p.Y59C|PTPN6_ENST00000456013.1_Missense_Mutation_p.Y98C|PTPN6_ENST00000399448.1_Missense_Mutation_p.Y100C	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	98	SH2 1.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						CACCTCAAGTACCCGCTGAAC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	110	105			NA	NA	12		NA											NA				7061307		2189	4282	6471	SO:0001583	missense				CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679	5777	5777		Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor, SH2 domain containing	9658	protein-coding gene	gene with protein product		176883			NA	1639416	Standard	NM_002831	NM_080548	NA	Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.293A>G	12.37:g.7061307A>G	ENSP00000326010:p.Tyr98Cys	NA	A8K306|Q969V8	37	CCDS44820.1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.381149	0.61845	.	.	ENSG00000111679	ENST00000543115;ENST00000399448;ENST00000447931;ENST00000538715;ENST00000318974;ENST00000456013;ENST00000536521;ENST00000541698;ENST00000542462	D;D;D;D;D;D;D;D;D	0.96774	-4.12;-4.12;-4.12;-4.12;-4.12;-4.12;-4.12;-4.12;-4.12	4.37	4.37	0.52481	SH2 motif (2);	0.000000	0.85682	D	0.000000	D	0.95705	0.8603	M	0.63843	1.955	0.58432	D	0.999999	P;B;P;B;P	0.43607	0.812;0.444;0.802;0.184;0.701	P;B;B;B;B	0.46659	0.523;0.44;0.44;0.184;0.343	D	0.95169	0.8288	10	0.46703	T	0.11	.	13.5971	0.61996	1.0:0.0:0.0:0.0	.	86;59;98;98;100	B4DPS0;P29350-2;G3V0F8;P29350;Q53XS4	.;.;.;PTN6_HUMAN;.	C	119;100;59;98;98;98;98;98;57	ENSP00000443393:Y119C;ENSP00000382376:Y100C;ENSP00000415979:Y59C;ENSP00000438740:Y98C;ENSP00000326010:Y98C;ENSP00000391592:Y98C;ENSP00000444337:Y98C;ENSP00000445646:Y98C;ENSP00000440114:Y57C	ENSP00000326010:Y98C	Y	+	2	0	PTPN6	6931568	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	1.612000	0.50221	0.459000	0.35465	TAC	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400023.1		+	ENST00000318974.9	Missense_Mutation	SNP	12 : 7061307 - 7061307 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	479	65
IGSF9	57549	broad.mit.edu	37	1	159897224	159897224	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159897224C>A	ENST00000368094.1	-	21	3648	c.3451G>T	c.(3451-3453)Gcc>Tcc	p.A1151S	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.A1135S	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1151						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CGGCGGAAGGCCAGGAATTCC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	51	50			NA	NA	1		NA											NA				159897224		2203	4299	6502	SO:0001583	missense			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552	57549	57549		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	18132	protein-coding gene	gene with protein product		609738			NA	11991715	Standard	NM_020789	NM_020789	NA	Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.3451G>T	1.37:g.159897224C>A	ENSP00000357073:p.Ala1151Ser	NA		37	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.771903	0.90108	.	.	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	T;T	0.67171	-0.25;-0.17	5.52	5.52	0.82312	.	0.000000	0.41500	D	0.000879	T	0.62368	0.2422	L	0.27053	0.805	0.33716	D	0.616383	D;D	0.58970	0.984;0.97	D;P	0.68192	0.956;0.681	T	0.63550	-0.6612	9	.	.	.	-17.8032	14.9501	0.71067	0.0:1.0:0.0:0.0	.	1151;689	Q9P2J2;C9JI81	TUTLA_HUMAN;.	S	1135;1151;689	ENSP00000355049:A1135S;ENSP00000357073:A1151S	.	A	-	1	0	IGSF9	158163848	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.635000	0.61332	2.608000	0.88229	0.563000	0.77884	GCC	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059115.1		-	ENST00000368094.1	Missense_Mutation	SNP	1 : 159897224 - 159897224 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	663	82
OR5M11	219487	broad.mit.edu	37	11	56310189	56310189	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56310189G>A	ENST00000528616.2	-	1	568	c.545C>T	c.(544-546)cCg>cTg	p.P182L		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CTTAATGAGCGGCGGGTCAGC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								A	LEU/PRO	0,4126		0,0,2063	46	48	48		545	2	0.5	11		48	4,8436		0,4,4216	yes	missense	OR5M11	NM_001005245.1	98	0,4,6279	AA,AG,GG	NA	0.0474,0.0,0.0318	probably-damaging	182/306	56310189	4,12562	2063	4220	6283	SO:0001583	missense			AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223	219487	219487		GPCR / Class A : Olfactory receptors	15291	protein-coding gene	gene with protein product					NA		Standard	NM_001005245	NM_001005245	NA	Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.545C>T	11.37:g.56310189G>A	ENSP00000432417:p.Pro182Leu	NA	B2RNL5|B2RNL7	37	CCDS53629.1	.	.	.	.	.	.	.	.	.	.	A	11.09	1.535136	0.27475	0.0	4.74E-4	ENSG00000255223	ENST00000528616	T	0.00224	8.51	4.89	1.97	0.26223	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00496	0.0016	M	0.80422	2.495	0.21445	N	0.99969	D	0.89917	1.0	D	0.74348	0.983	T	0.47032	-0.9148	9	0.72032	D	0.01	.	7.6395	0.28286	0.1337:0.0:0.6314:0.2349	.	182	Q96RB7	OR5MB_HUMAN	L	182	ENSP00000432417:P182L	ENSP00000432417:P182L	P	-	2	0	OR5M11	56066765	0.003000	0.15002	0.493000	0.27502	0.234000	0.25298	1.152000	0.31663	0.040000	0.15660	-1.789000	0.00628	CCG	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391608.1		-	ENST00000528616.2	Missense_Mutation	SNP	11 : 56310189 - 56310189 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	193	28
ZNF117	51351	broad.mit.edu	37	7	64438880	64438880	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:64438880C>T	ENST00000282869.6	-	4	2353	c.1069G>A	c.(1069-1071)Gga>Aga	p.G357R		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	NA						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				GGTTTCTCTCCAGTATGAATT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	75	74			NA	NA	7		NA											NA				64438880		2152	4275	6427	SO:0001583	missense			M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926	51351	51351		Zinc fingers, C2H2-type	12897	protein-coding gene	gene with protein product		194624	zinc finger protein 117 (HPF9)		NA	1427907	Standard	NM_024498	NM_015852	NA	Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.1069G>A	7.37:g.64438880C>T	ENSP00000282869:p.Gly357Arg	NA	Q02313|Q7Z7Q7	37	CCDS43593.1	.	.	.	.	.	.	.	.	.	.	.	15.61	2.884060	0.51908	.	.	ENSG00000152926	ENST00000398695;ENST00000282869	T	0.26223	1.75	1.11	1.11	0.20524	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26448	0.0646	M	0.66939	2.045	0.41668	D	0.98922	P	0.37398	0.593	B	0.38683	0.279	T	0.10222	-1.0639	9	0.62326	D	0.03	.	7.6354	0.28264	0.0:1.0:0.0:0.0	.	357	Q03924	ZN117_HUMAN	R	357	ENSP00000282869:G357R	ENSP00000282869:G357R	G	-	1	0	ZNF117	64076315	0.029000	0.19370	0.150000	0.22450	0.056000	0.15407	2.078000	0.41567	0.518000	0.28383	0.313000	0.20887	GGA	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344863.3		-	ENST00000282869.6	Missense_Mutation	SNP	7 : 64438880 - 64438880 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	501	76
NEDD4L	23327	broad.mit.edu	37	18	55998025	55998025	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:55998025C>T	ENST00000256830.9	+	11	869	c.869C>T	c.(868-870)gCt>gTt	p.A290V	NEDD4L_ENST00000435432.2_Missense_Mutation_p.A169V|NEDD4L_ENST00000382850.4_Missense_Mutation_p.A290V|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000256832.7_Missense_Mutation_p.A169V|NEDD4L_ENST00000586263.1_Missense_Mutation_p.A282V|NEDD4L_ENST00000431212.2_Missense_Mutation_p.A169V|NEDD4L_ENST00000456173.2_Missense_Mutation_p.A169V|NEDD4L_ENST00000400345.3_Missense_Mutation_p.A290V|NEDD4L_ENST00000357895.5_Missense_Mutation_p.A282V|NEDD4L_ENST00000356462.6_Missense_Mutation_p.A290V|NEDD4L_ENST00000456986.1_Missense_Mutation_p.A169V			Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	290					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						CTCGGTCTGGCTCTGCCCCCA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	46	46			NA	NA	18		NA											NA				55998025		1879	4100	5979	SO:0001583	missense			AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759		23327	23327			7728	protein-coding gene	gene with protein product		606384	neural precursor cell expressed, developmentally down-regulated 4-like		NA	10594025, 11244092, 18322022	Standard		NM_001144965	NA	Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000256830.9:c.869C>T	18.37:g.55998025C>T	ENSP00000256830:p.Ala290Val	NA	O43165|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	37		.	.	.	.	.	.	.	.	.	.	C	10.26	1.300116	0.23650	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	T;T;T;T;T;T;T;T;T;T	0.33654	1.43;1.4;1.42;1.42;1.9;1.92;1.83;1.9;1.9;1.92	5.58	2.31	0.28768	.	1.280920	0.05285	N	0.520104	T	0.26919	0.0659	N	0.22421	0.69	0.25577	N	0.986832	B;B;B;B;B;B;B	0.18968	0.0;0.002;0.006;0.0;0.0;0.001;0.032	B;B;B;B;B;B;B	0.22152	0.001;0.006;0.009;0.001;0.002;0.002;0.038	T	0.26503	-1.0101	10	0.29301	T	0.29	.	8.0142	0.30372	0.1315:0.7125:0.0:0.1561	.	290;282;282;169;290;290;290	Q96PU5-3;Q96PU5-6;Q96PU5-7;Q3LSM7;Q96PU5-2;Q96PU5;Q96PU5-5	.;.;.;.;.;NED4L_HUMAN;.	V	290;290;290;290;169;169;282;169;169;169	ENSP00000383199:A290V;ENSP00000372301:A290V;ENSP00000348847:A290V;ENSP00000256830:A290V;ENSP00000256832:A169V;ENSP00000411947:A169V;ENSP00000350569:A282V;ENSP00000393395:A169V;ENSP00000405440:A169V;ENSP00000389406:A169V	ENSP00000256830:A290V	A	+	2	0	NEDD4L	54149005	0.697000	0.27767	0.035000	0.18076	0.251000	0.25915	1.091000	0.30915	0.689000	0.31550	0.655000	0.94253	GCT	NEDD4L-037	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000449050.2		+	ENST00000256830.9	Missense_Mutation	SNP	18 : 55998025 - 55998025 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	162	25
WWTR1	25937	broad.mit.edu	37	3	149374688	149374688	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:149374688C>T	ENST00000465804.1	-	3	662	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	WWTR1_ENST00000360632.3_Missense_Mutation_p.A136T|WWTR1_ENST00000467467.1_Missense_Mutation_p.A136T	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	136	WW.				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TGGCCAGTGGCCGTGAAGGTC	0.647		NA	T	CAMTA1	epitheliod hemangioendothelioma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		3	3q23-q24	607392	WW domain containing transcription regulator 1		M	0													31	28	29			NA	NA	3		NA											NA				149374688		2149	4178	6327	SO:0001583	missense			AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408	25937	25937			24042	protein-coding gene	gene with protein product		607392			NA	11118213, 15096513	Standard	NM_015472	NM_015472	NA	Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.406G>A	3.37:g.149374688C>T	ENSP00000419465:p.Ala136Thr	NA	D3DNH7|Q8N3P2|Q9Y3W6	37	CCDS3144.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640804	0.47153	.	.	ENSG00000018408	ENST00000465804;ENST00000360632;ENST00000467467;ENST00000479238;ENST00000485352	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.09	4.22	0.49857	WW/Rsp5/WWP (6);	0.229124	0.44483	N	0.000444	T	0.74007	0.3660	L	0.35793	1.09	0.29446	N	0.858803	B	0.06786	0.001	B	0.08055	0.003	T	0.69213	-0.5204	10	0.66056	D	0.02	-13.2993	8.6679	0.34132	0.0:0.634:0.2783:0.0877	.	136	Q9GZV5	WWTR1_HUMAN	T	136	ENSP00000419465:A136T;ENSP00000353847:A136T;ENSP00000419234:A136T;ENSP00000418580:A136T	ENSP00000353847:A136T	A	-	1	0	WWTR1	150857378	0.056000	0.20664	1.000000	0.80357	0.944000	0.59088	0.302000	0.19192	1.135000	0.42183	0.462000	0.41574	GCC	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356498.1		-	ENST00000465804.1	Missense_Mutation	SNP	3 : 149374688 - 149374688 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	241	20
FANCB	2187	broad.mit.edu	37	X	14883249	14883249	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:14883249A>G	ENST00000324138.3	-	2	537	c.384T>C	c.(382-384)taT>taC	p.Y128Y	FANCB_ENST00000398334.1_Silent_p.Y128Y	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	128					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					CCTTCATCTCATAGCCTAGTT	0.308		NA						Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	41	41			NA	NA	X		NA											NA				14883249		2203	4299	6502	SO:0001819	synonymous_variant	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544	2187	2187		Fanconi anemia, complementation groups	3583	protein-coding gene	gene with protein product		300515			NA	9382107, 15502827	Standard	NM_152633	NM_152633	NA	Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.384T>C	X.37:g.14883249A>G		NA	B2RMZ4|Q7Z2U2|Q86XG1	37	CCDS14161.1																																																																																			FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055835.1		-	ENST00000324138.3	Silent	SNP	X : 14883249 - 14883249 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	160	66
BST2	684	broad.mit.edu	37	19	17516300	17516300	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17516300G>A	ENST00000252593.6	-	1	157	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	BST2_ENST00000527220.1_5'UTR	NM_004335.2	NP_004326.1	Q10589	BST2_HUMAN	bone marrow stromal cell antigen 2	29					B cell activation|cell proliferation|cell-cell signaling|defense response to virus|humoral immune response|innate immune response|multicellular organismal development|positive regulation of I-kappaB kinase/NF-kappaB cascade	anchored to membrane|Golgi apparatus|integral to plasma membrane|late endosome	protein homodimerization activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(2)	9						AGGAGCACCAGAATTCCTATC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	122	130			NA	NA	19		NA											NA				17516300		2203	4300	6503	SO:0001819	synonymous_variant				CCDS12358.1	19p13.2	2009-10-30				ENSG00000130303	684	684		CD molecules	1119	protein-coding gene	gene with protein product		600534			NA	7607676	Standard	NM_004335	NM_004335	NA	Approved	CD317, tetherin	uc002ngl.3	Q10589		ENST00000252593.6:c.85C>T	19.37:g.17516300G>A		NA	A8K4Y4|Q53G07	37	CCDS12358.1																																																																																			BST2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387346.1		-	ENST00000252593.6	Silent	SNP	19 : 17516300 - 17516300 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	507	89
CDC14A	8556	broad.mit.edu	37	1	100964692	100964692	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100964692C>T	ENST00000336454.3	+	15	1984	c.1629C>T	c.(1627-1629)aaC>aaT	p.N543N	CDC14A_ENST00000544534.1_Silent_p.N543N|CDC14A_ENST00000361544.6_Silent_p.N543N|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000542213.1_Silent_p.N485N	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	543					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		GCAACAGCAACGGGGGCAACC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	88	87			NA	NA	1		NA											NA				100964692		2203	4300	6503	SO:0001819	synonymous_variant			AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335	8556	8556		Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s	1718	protein-coding gene	gene with protein product		603504	CDC10 (cell division cycle 10, S. cerevisiae, homolog), CDC14 cell division cycle 14 homolog A (S. cerevisiae)		NA	9367992, 10409437	Standard	NM_033312	NM_033312	NA	Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.1629C>T	1.37:g.100964692C>T		NA	B1AQ14|B1AQ15|O43171|O60727|O60728|Q8IXX0	37	CCDS769.1																																																																																			CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000030220.1		+	ENST00000336454.3	Silent	SNP	1 : 100964692 - 100964692 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	41
COBLL1	22837	broad.mit.edu	37	2	165551408	165551408	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:165551408C>T	ENST00000375458.2	-	11	2715	c.2494G>A	c.(2494-2496)Gac>Aac	p.D832N	COBLL1_ENST00000392717.2_Missense_Mutation_p.D908N|COBLL1_ENST00000194871.6_Missense_Mutation_p.D937N|COBLL1_ENST00000409184.3_Missense_Mutation_p.D870N|COBLL1_ENST00000342193.4_Missense_Mutation_p.D870N	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	908										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						GTGCCAGTGTCTCTTGTCATT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	90	92			NA	NA	2		NA											NA				165551408		2203	4300	6503	SO:0001583	missense			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438	22837	22837			23571	protein-coding gene	gene with protein product		610318	COBL-like 1		NA		Standard	NM_014900	NM_001278458	NA	Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000375458.2:c.2494G>A	2.37:g.165551408C>T	ENSP00000364607:p.Asp832Asn	NA	A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	37		.	.	.	.	.	.	.	.	.	.	C	12.15	1.850455	0.32699	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	6.17	4.28	0.50868	.	0.246856	0.36234	N	0.002708	T	0.50188	0.1601	L	0.60455	1.87	0.09310	N	0.999998	P;P;D	0.69078	0.834;0.834;0.997	B;B;D	0.64410	0.265;0.265;0.925	T	0.41106	-0.9527	9	0.31617	T	0.26	-9.929	4.2721	0.10792	0.2381:0.5568:0.1268:0.0783	.	908;937;870	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	N	832;870;870;908;937	.	ENSP00000194871:D937N	D	-	1	0	COBLL1	165259654	0.071000	0.21146	0.476000	0.27291	0.111000	0.19643	0.565000	0.23578	1.607000	0.50170	-0.211000	0.12701	GAC	COBLL1-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000157054.3		-	ENST00000375458.2	Missense_Mutation	SNP	2 : 165551408 - 165551408 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	640	100
LMTK2	22853	broad.mit.edu	37	7	97823692	97823692	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97823692C>T	ENST00000297293.5	+	11	4208	c.3915C>T	c.(3913-3915)agC>agT	p.S1305S		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1305					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ACCTGCATAGCCTCAGCTCCG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	117	119			NA	NA	7		NA											NA				97823692		2203	4300	6503	SO:0001819	synonymous_variant			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715	22853	22853			17880	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 100	610989			NA	15005709	Standard	NM_014916	NM_014916	NA	Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.3915C>T	7.37:g.97823692C>T		NA	A4D272|Q75MG7|Q9UPS3	37	CCDS5654.1																																																																																			LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334560.1		+	ENST00000297293.5	Silent	SNP	7 : 97823692 - 97823692 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	563	57
UPF2	26019	broad.mit.edu	37	10	12070779	12070779	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:12070779G>A	ENST00000356352.2	-	2	1583	c.1110C>T	c.(1108-1110)gaC>gaT	p.D370D	UPF2_ENST00000397053.2_Silent_p.D370D|UPF2_ENST00000357604.5_Silent_p.D370D			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	370	MIF4G 1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				GCTCCCTGTGGTCCCTTTTCA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	75	74			NA	NA	10		NA											NA				12070779		2201	4298	6499	SO:0001819	synonymous_variant			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461	26019	26019			17854	protein-coding gene	gene with protein product	smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)	605529			NA	11073994, 11113196	Standard		NM_080599	NA	Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.1110C>T	10.37:g.12070779G>A		NA	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	37	CCDS7086.1																																																																																			UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046783.1		-	ENST00000356352.2	Silent	SNP	10 : 12070779 - 12070779 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	509	106
OAS3	4940	broad.mit.edu	37	12	113407771	113407771	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113407771C>A	ENST00000228928.7	+	16	3436	c.3257C>A	c.(3256-3258)gCt>gAt	p.A1086D	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	1086					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CCCCAGGCTGCTGTGTGAAGT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	55	55			NA	NA	12		NA											NA				113407771		1951	4141	6092	SO:0001583	missense			AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331	4940	4940			8088	protein-coding gene	gene with protein product		603351	2'-5'-oligoadenylate synthetase 3 (100 kD)		NA	9790745	Standard		NM_006187	NA	Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.3257C>A	12.37:g.113407771C>A	ENSP00000228928:p.Ala1086Asp	NA	Q2HJ14|Q9H3P5	37	CCDS44981.1	.	.	.	.	.	.	.	.	.	.	C	9.723	1.160159	0.21454	.	.	ENSG00000111331	ENST00000228928;ENST00000323881;ENST00000549918	T	0.08282	3.11	2.58	2.58	0.30949	-oligoadenylate synthetase 1, domain 2/C-terminal (1);-5&apos (1);2&apos (1);	.	.	.	.	T	0.09555	0.0235	M	0.64080	1.96	0.32173	N	0.581369	P	0.34587	0.458	B	0.31614	0.133	T	0.05037	-1.0910	9	0.44086	T	0.13	.	8.7834	0.34804	0.0:1.0:0.0:0.0	.	1086	Q9Y6K5	OAS3_HUMAN	D	1086;1085;65	ENSP00000228928:A1086D	ENSP00000228928:A1086D	A	+	2	0	OAS3	111892154	0.017000	0.18338	0.779000	0.31741	0.071000	0.16799	0.341000	0.19909	1.768000	0.52137	0.557000	0.71058	GCT	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405920.1		+	ENST00000228928.7	Missense_Mutation	SNP	12 : 113407771 - 113407771 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	63	10
TCHHL1	126637	broad.mit.edu	37	1	152058970	152058970	+	Silent	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152058970A>T	ENST00000368806.1	-	3	1252	c.1188T>A	c.(1186-1188)ggT>ggA	p.G396G		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	396							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GGGCCTCAGGACCTCTCCTCT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	143	145			NA	NA	1		NA											NA				152058970		2203	4300	6503	SO:0001819	synonymous_variant				CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898	126637	126637		S100 calcium binding proteins	31796	protein-coding gene	gene with protein product			S100 calcium binding protein A17	S100A17, THHL1	NA		Standard	XM_060104	NM_001008536	NA	Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.1188T>A	1.37:g.152058970A>T		NA	B2RPK8|Q5VTJ9	37	CCDS30857.1																																																																																			TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000036638.2		-	ENST00000368806.1	Silent	SNP	1 : 152058970 - 152058970 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1118	197
MOSPD2	158747	broad.mit.edu	37	X	14929376	14929376	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:14929376C>A	ENST00000380492.3	+	9	808	c.720C>A	c.(718-720)agC>agA	p.S240R	MOSPD2_ENST00000482354.1_Missense_Mutation_p.S240R|MOSPD2_ENST00000495110.1_3'UTR	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	240			S -> N (in dbSNP:rs35164803).			integral to membrane	structural molecule activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					TCAAGTATAGCTATCCACCAC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	155	156			NA	NA	X		NA											NA				14929376		2203	4300	6503	SO:0001583	missense			AL834345	CCDS14162.1	Xp22.31	2006-03-16			ENSG00000130150	ENSG00000130150	158747	158747			28381	protein-coding gene	gene with protein product					NA	15533722	Standard	NM_152581	NM_152581	NA	Approved	MGC26706	uc004cwi.3	Q8NHP6	OTTHUMG00000021170	ENST00000380492.3:c.720C>A	X.37:g.14929376C>A	ENSP00000369860:p.Ser240Arg	NA	Q8N3H2|Q8NA83	37	CCDS14162.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302246	0.60195	.	.	ENSG00000130150	ENST00000380492	T	0.61274	0.12	4.85	3.72	0.42706	Cellular retinaldehyde-binding/triple function, C-terminal (2);	0.078294	0.85682	D	0.000000	T	0.62986	0.2473	M	0.75264	2.295	0.58432	D	0.999998	D	0.58620	0.983	P	0.55455	0.776	T	0.65113	-0.6247	10	0.46703	T	0.11	.	3.4507	0.07496	0.0:0.5535:0.0:0.4465	.	240	Q8NHP6	MSPD2_HUMAN	R	240	ENSP00000369860:S240R	ENSP00000369860:S240R	S	+	3	2	MOSPD2	14839297	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	0.855000	0.27805	2.120000	0.65058	0.594000	0.82650	AGC	MOSPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055837.1		+	ENST00000380492.3	Missense_Mutation	SNP	X : 14929376 - 14929376 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	698	148
PRDM4	11108	broad.mit.edu	37	12	108128027	108128027	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108128027G>A	ENST00000228437.5	-	12	2825	c.2366C>T	c.(2365-2367)gCt>gTt	p.A789V		NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	789					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TGAATACACAGCACTGTTAAT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	148	151			NA	NA	12		NA											NA				108128027		2203	4300	6503	SO:0001583	missense			AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851	11108	11108		Zinc fingers, C2H2-type	9348	protein-coding gene	gene with protein product		605780			NA	10552934	Standard	NM_012406	NM_012406	NA	Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.2366C>T	12.37:g.108128027G>A	ENSP00000228437:p.Ala789Val	NA	Q9UFA6	37	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019506	0.54576	.	.	ENSG00000110851	ENST00000228437	T	0.10573	2.86	6.03	4.12	0.48240	.	0.097739	0.64402	D	0.000002	T	0.06371	0.0164	N	0.12182	0.205	0.25555	N	0.987046	B	0.20052	0.041	B	0.17098	0.017	T	0.24764	-1.0151	10	0.66056	D	0.02	0.0607	8.4723	0.32993	0.0821:0.2235:0.6943:0.0	.	789	Q9UKN5	PRDM4_HUMAN	V	789	ENSP00000228437:A789V	ENSP00000228437:A789V	A	-	2	0	PRDM4	106652157	0.983000	0.35010	0.412000	0.26496	0.855000	0.48748	3.027000	0.49697	1.569000	0.49696	-0.263000	0.10527	GCT	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406546.1		-	ENST00000228437.5	Missense_Mutation	SNP	12 : 108128027 - 108128027 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	698	179
ANGEL2	90806	broad.mit.edu	37	1	213186643	213186643	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:213186643T>C	ENST00000366962.3	-	2	331	c.177A>G	c.(175-177)ggA>ggG	p.G59G	ANGEL2_ENST00000535388.1_Intron|ANGEL2_ENST00000540642.1_Intron|ANGEL2_ENST00000360506.2_Intron|ANGEL2_ENST00000544555.1_Intron	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	59										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		GAGAGTAATGTCCAGGCCACC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	156	158			NA	NA	1		NA											NA				213186643		2203	4300	6503	SO:0001819	synonymous_variant			AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606	90806	90806			30534	protein-coding gene	gene with protein product					NA	11943475	Standard	NM_144567	XM_005273344	NA	Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.177A>G	1.37:g.213186643T>C		NA	B7Z2U4|D3DTA3|Q86X13|Q8NHH3	37	CCDS1512.1																																																																																			ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089693.1		-	ENST00000366962.3	Silent	SNP	1 : 213186643 - 213186643 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	941	83
EIF2AK4	440275	broad.mit.edu	37	15	40269004	40269004	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40269004C>T	ENST00000263791.5	+	12	2251	c.2208C>T	c.(2206-2208)gaC>gaT	p.D736D	EIF2AK4_ENST00000382727.2_Silent_p.D736D	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	736	Protein kinase 2.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		ACGAGGACGACGACGAGGACG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	52	51			NA	NA	15		NA											NA				40269004		1792	3889	5681	SO:0001819	synonymous_variant			AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829	440275	440275			19687	protein-coding gene	gene with protein product		609280			NA	10504407	Standard		XM_005254392	NA	Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.2208C>T	15.37:g.40269004C>T		NA	C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	37	CCDS42016.1																																																																																			EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418395.1		+	ENST00000263791.5	Silent	SNP	15 : 40269004 - 40269004 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	816	99
NR3C1	2908	broad.mit.edu	37	5	142693707	142693707	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:142693707G>T	ENST00000343796.2	-	3	2204	c.1211C>A	c.(1210-1212)tCt>tAt	p.S404Y	NR3C1_ENST00000504572.1_Missense_Mutation_p.S404Y|NR3C1_ENST00000503201.1_Missense_Mutation_p.S404Y|NR3C1_ENST00000415690.2_Missense_Mutation_p.S404Y|NR3C1_ENST00000504336.1_5'UTR|NR3C1_ENST00000394466.2_Missense_Mutation_p.S404Y|NR3C1_ENST00000424646.2_Missense_Mutation_p.S378Y|NR3C1_ENST00000231509.3_Missense_Mutation_p.S404Y|NR3C1_ENST00000416954.2_Missense_Mutation_p.S7Y|NR3C1_ENST00000394464.2_Missense_Mutation_p.S404Y	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	404	Glu/Pro/Ser/Thr-rich (PEST region).|Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	GGATGGAGGAGAGCTTACATC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													170	153	159			NA	NA	5		NA											NA				142693707		2203	4300	6503	SO:0001583	missense			X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580	2908	2908		Nuclear hormone receptors	7978	protein-coding gene	gene with protein product		138040	nuclear receptor subfamily 3, group C, member 1	GRL	NA	2867473	Standard		NM_001204258	NA	Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.1211C>A	5.37:g.142693707G>T	ENSP00000343205:p.Ser404Tyr	NA	B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	37	CCDS4278.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456715	0.84317	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000361001;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000416954;ENST00000503201	D;D;D;D;D;D;D;D;D	0.86230	-1.68;-1.68;-1.63;-1.73;-1.68;-1.68;-1.68;-2.09;-1.68	5.72	5.72	0.89469	.	0.119693	0.64402	D	0.000013	D	0.91835	0.7416	L	0.48877	1.53	0.46336	D	0.998995	D;D;D	0.71674	0.994;0.998;0.993	P;D;P	0.78314	0.825;0.991;0.866	D	0.91925	0.5550	10	0.66056	D	0.02	.	19.8658	0.96803	0.0:0.0:1.0:0.0	.	404;404;404	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	Y	404;404;404;404;378;404;404;404;7;404	ENSP00000377977:S404Y;ENSP00000343205:S404Y;ENSP00000387672:S404Y;ENSP00000405282:S378Y;ENSP00000422518:S404Y;ENSP00000377979:S404Y;ENSP00000231509:S404Y;ENSP00000404218:S7Y;ENSP00000427672:S404Y	ENSP00000231509:S404Y	S	-	2	0	NR3C1	142673900	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.363000	0.73082	2.696000	0.92011	0.650000	0.86243	TCT	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370829.1		-	ENST00000343796.2	Missense_Mutation	SNP	5 : 142693707 - 142693707 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	208	43
SHPK	23729	broad.mit.edu	37	17	3514153	3514153	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3514153C>T	ENST00000225519.3	-	7	1240	c.1138G>A	c.(1138-1140)Gac>Aac	p.D380N		NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	380					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		GCCAGCTGGTCCGGCAGGTGC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	72	74			NA	NA	17		NA											NA				3514153		2203	4300	6503	SO:0001583	missense			AF163573	CCDS11030.1	17p13	2008-02-08	2008-02-08	2008-02-08	ENSG00000197417	ENSG00000197417	23729	23729	2.7.1.14		1492	protein-coding gene	gene with protein product		605060	carbohydrate kinase-like	CARKL	NA	10673275, 18186520	Standard		NM_013276	NA	Approved	SHK	uc002fvz.1	Q9UHJ6	OTTHUMG00000090694	ENST00000225519.3:c.1138G>A	17.37:g.3514153C>T	ENSP00000225519:p.Asp380Asn	NA	B2R640|Q8WUH3	37	CCDS11030.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.104741	0.37145	.	.	ENSG00000197417	ENST00000225519	T	0.18657	2.2	5.2	5.2	0.72013	.	0.332700	0.35179	N	0.003389	T	0.22360	0.0539	L	0.55990	1.75	0.29187	N	0.876141	B	0.20671	0.047	B	0.20955	0.032	T	0.15694	-1.0428	10	0.11182	T	0.66	-25.8882	18.1093	0.89530	0.0:1.0:0.0:0.0	.	380	Q9UHJ6	SHPK_HUMAN	N	380	ENSP00000225519:D380N	ENSP00000225519:D380N	D	-	1	0	SHPK	3460902	0.942000	0.31987	0.971000	0.41717	0.805000	0.45488	1.863000	0.39459	2.606000	0.88127	0.563000	0.77884	GAC	SHPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207378.2		-	ENST00000225519.3	Missense_Mutation	SNP	17 : 3514153 - 3514153 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	592	103
UNC5B	219699	broad.mit.edu	37	10	73051266	73051266	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73051266G>A	ENST00000335350.6	+	10	1788	c.1372G>A	c.(1372-1374)Gcc>Acc	p.A458T	UNC5B_ENST00000373192.4_Missense_Mutation_p.A447T	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	458					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						ACCCGTGTATGCCCTGCAGGA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	80	81			NA	NA	10		NA											NA				73051266		2203	4300	6503	SO:0001583	missense			AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731	219699	219699		Immunoglobulin superfamily / I-set domain containing	12568	protein-coding gene	gene with protein product		607870	unc5 (C.elegans homolog) b		NA		Standard	NM_170744	NM_170744	NA	Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1372G>A	10.37:g.73051266G>A	ENSP00000334329:p.Ala458Thr	NA	Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	37	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	g	16.37	3.103661	0.56291	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.50548	0.8;0.74	4.47	4.47	0.54385	.	0.204155	0.42964	D	0.000622	T	0.59101	0.2169	M	0.72894	2.215	0.49483	D	0.999795	D;P	0.57257	0.979;0.908	P;B	0.54100	0.742;0.437	T	0.57745	-0.7758	10	0.18276	T	0.48	-29.7656	17.5121	0.87763	0.0:0.0:1.0:0.0	.	447;458	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	T	458;447	ENSP00000334329:A458T;ENSP00000362288:A447T	ENSP00000334329:A458T	A	+	1	0	UNC5B	72721272	1.000000	0.71417	0.928000	0.36995	0.452000	0.32318	4.325000	0.59234	2.190000	0.69967	0.651000	0.88453	GCC	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048541.1		+	ENST00000335350.6	Missense_Mutation	SNP	10 : 73051266 - 73051266 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	539	111
PARM1	25849	broad.mit.edu	37	4	75971390	75971390	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:75971390G>A	ENST00000307428.7	+	4	1078	c.866G>A	c.(865-867)aGa>aAa	p.R289K	PARM1_ENST00000513238.1_Missense_Mutation_p.R47K	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	289					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						TCCTATGGAAGACTTTTGGAC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	106	106			NA	NA	4		NA											NA				75971390		2096	4242	6338	SO:0001583	missense			AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116	25849	25849			24536	protein-coding gene	gene with protein product	Prostatic androgen-repressed message 1, Castration-induced prostatic apoptosis-related protein 1, WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)				NA	10499539, 12772192, 18027867	Standard	NM_015393	NM_015393	NA	Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.866G>A	4.37:g.75971390G>A	ENSP00000370224:p.Arg289Lys	NA	B3KMQ9|Q96DV8|Q9Y4S1	37	CCDS47077.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581020	0.86748	.	.	ENSG00000169116	ENST00000513238;ENST00000307428	T;T	0.21543	2.0;2.0	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000011	T	0.35364	0.0929	L	0.27053	0.805	0.37882	D	0.930413	D	0.89917	1.0	D	0.83275	0.996	T	0.19614	-1.0300	10	0.87932	D	0	-16.8324	16.9624	0.86275	0.0:0.0:1.0:0.0	.	289	Q6UWI2	PARM1_HUMAN	K	47;289	ENSP00000424276:R47K;ENSP00000370224:R289K	ENSP00000370224:R289K	R	+	2	0	PARM1	76190414	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	6.093000	0.71422	2.873000	0.98535	0.561000	0.74099	AGA	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362494.1		+	ENST00000307428.7	Missense_Mutation	SNP	4 : 75971390 - 75971390 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	177	30
PROM2	150696	broad.mit.edu	37	2	95945719	95945719	+	Silent	SNP	C	C	T	rs140258551	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95945719C>T	ENST00000317620.9	+	11	1534	c.1401C>T	c.(1399-1401)ggC>ggT	p.G467G	PROM2_ENST00000317668.4_Silent_p.G467G|PROM2_ENST00000403131.2_Silent_p.G467G|PROM2_ENST00000542147.1_Silent_p.G467G	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	467						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		p.G467G(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AAGCCAAGGGCGAGGCTGGAG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)						C	,,	1,4405	2.1+/-5.4	0,1,2202	56	48	51		1401,1401,1401	3.5	1	2	dbSNP_134	51	6,8594	4.3+/-15.6	0,6,4294	no	coding-synonymous,coding-synonymous,coding-synonymous	PROM2	NM_001165977.1,NM_001165978.1,NM_144707.2	,,	0,7,6496	TT,TC,CC	NA	0.0698,0.0227,0.0538	,,	467/835,467/835,467/835	95945719	7,12999	2203	4300	6503	SO:0001819	synonymous_variant			AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066	150696	150696			20685	protein-coding gene	gene with protein product					NA	12514187	Standard	NM_144707	NM_001165978	NA	Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1401C>T	2.37:g.95945719C>T		NA	A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	37	CCDS2012.1																																																																																			PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252771.1		+	ENST00000317620.9	Silent	SNP	2 : 95945719 - 95945719 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	322	67
CLRN3	119467	broad.mit.edu	37	10	129690991	129690991	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129690991A>T	ENST00000368671.3	-	1	220	c.58T>A	c.(58-60)Tcc>Acc	p.S20T		NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN	clarin 3	20						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				ACAATGAAGGACCCAAGGCTG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	101	105			NA	NA	10		NA											NA				129690991		2203	4300	6503	SO:0001583	missense			BC029478	CCDS7656.1	10q26.2	2006-11-24	2006-11-23	2006-11-23	ENSG00000180745	ENSG00000180745	119467	119467			20795	protein-coding gene	gene with protein product			transmembrane protein 12	TMEM12	NA	12145752, 12080385	Standard	NM_152311	NM_152311	NA	Approved	MGC32871, USH3AL1	uc001lka.1	Q8NCR9	OTTHUMG00000019253	ENST00000368671.3:c.58T>A	10.37:g.129690991A>T	ENSP00000357660:p.Ser20Thr	NA	Q6MZX8	37	CCDS7656.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.780443	0.49891	.	.	ENSG00000180745	ENST00000368671	T	0.70749	-0.51	5.52	-5.86	0.02304	.	0.222808	0.38837	N	0.001554	T	0.65439	0.2691	M	0.62723	1.935	0.09310	N	0.999998	P	0.47484	0.896	P	0.45660	0.489	T	0.67189	-0.5733	10	0.44086	T	0.13	-14.6668	14.2358	0.65925	0.2353:0.699:0.0658:0.0	.	20	Q8NCR9	CLRN3_HUMAN	T	20	ENSP00000357660:S20T	ENSP00000357660:S20T	S	-	1	0	CLRN3	129580981	0.076000	0.21285	0.002000	0.10522	0.126000	0.20510	0.537000	0.23144	-0.709000	0.05008	0.533000	0.62120	TCC	CLRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050987.1		-	ENST00000368671.3	Missense_Mutation	SNP	10 : 129690991 - 129690991 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	572	109
PLEC	5339	broad.mit.edu	37	8	144991705	144991705	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144991705G>A	ENST00000322810.4	-	32	12864	c.12695C>T	c.(12694-12696)aCg>aTg	p.T4232M	PLEC_ENST00000436759.2_Missense_Mutation_p.T4122M|PLEC_ENST00000527096.1_Missense_Mutation_p.T4118M|PLEC_ENST00000354589.3_Missense_Mutation_p.T4095M|PLEC_ENST00000356346.3_Missense_Mutation_p.T4081M|PLEC_ENST00000345136.3_Missense_Mutation_p.T4095M|PLEC_ENST00000357649.2_Missense_Mutation_p.T4099M|PLEC_ENST00000354958.2_Missense_Mutation_p.T4073M|PLEC_ENST00000398774.2_Missense_Mutation_p.T4063M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4232	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTTCTCCTCCGTGTTAGGGTC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	66	64			NA	NA	8		NA											NA				144991705		2095	4207	6302	SO:0001583	missense			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209	5339	5339			9069	protein-coding gene	gene with protein product		601282	plectin 1, intermediate filament binding protein, 500kD, epidermolysis bullosa simplex 1 (Ogna), plectin 1, intermediate filament binding protein 500kDa	EBS1, PLEC1	NA	8633055, 8696340	Standard	NM_000445	XM_005250976	NA	Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12695C>T	8.37:g.144991705G>A	ENSP00000323856:p.Thr4232Met	NA	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034364	0.35893	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	5.14	5.14	0.70334	.	0.000000	0.64402	U	0.000005	D	0.90896	0.7139	M	0.85630	2.765	0.80722	D	1	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	D;D;D;D;D;D;D;D	0.87578	0.998;0.998;0.998;0.996;0.998;0.998;0.998;0.998	D	0.92048	0.5646	10	0.87932	D	0	.	18.4072	0.90539	0.0:0.0:1.0:0.0	.	4122;4081;4073;4232;4063;4095;4099;4095	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	M	4095;4099;4095;4063;4232;4073;4081;4122;4118	ENSP00000344848:T4095M;ENSP00000350277:T4099M;ENSP00000346602:T4095M;ENSP00000381756:T4063M;ENSP00000323856:T4232M;ENSP00000347044:T4073M;ENSP00000348702:T4081M;ENSP00000388180:T4122M;ENSP00000434583:T4118M	ENSP00000323856:T4232M	T	-	2	0	PLEC	145063693	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	9.595000	0.98260	2.679000	0.91253	0.549000	0.68633	ACG	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383281.1		-	ENST00000322810.4	Missense_Mutation	SNP	8 : 144991705 - 144991705 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	452	96
ZNF480	147657	broad.mit.edu	37	19	52825080	52825080	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52825080G>T	ENST00000490272.1	+	0	385				ZNF480_ENST00000335090.6_Nonsense_Mutation_p.E116*|ZNF480_ENST00000595962.1_Nonsense_Mutation_p.E193*|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000334564.7_Nonsense_Mutation_p.E150*			Q8WV37	ZN480_HUMAN	zinc finger protein 480	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TCTCCCACAAGAACAGAAAGT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	86	85			NA	NA	19		NA											NA				52825080		2203	4300	6503	SO:0001624	3_prime_UTR_variant			AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464	147657	147657		Zinc fingers, C2H2-type, -	23305	protein-coding gene	gene with protein product		613910			NA	15219843	Standard	NM_144684	XM_005258525	NA	Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000490272.1:c.*135G>T	19.37:g.52825080G>T		NA	Q5JPG9|Q6P0Q4|Q8N1M5	37		.	.	.	.	.	.	.	.	.	.	G	11.47	1.649274	0.29336	.	.	ENSG00000198464	ENST00000468240;ENST00000334564;ENST00000335090	.	.	.	1.99	-0.868	0.10652	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.0554	0.09814	0.0:0.2636:0.468:0.2684	.	.	.	.	X	193;150;116	.	ENSP00000334164:E150X	E	+	1	0	ZNF480	57516892	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.292000	0.02772	-0.275000	0.09219	0.467000	0.42956	GAA	ZNF480-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000349002.1		+	ENST00000490272.1	3'UTR	SNP	19 : 52825080 - 52825080 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	422	61
TBC1D22A	25771	broad.mit.edu	37	22	47569242	47569242	+	Silent	SNP	C	C	T	rs144230848	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:47569242C>T	ENST00000337137.4	+	13	1693	c.1527C>T	c.(1525-1527)gcC>gcT	p.A509A	TBC1D22A_ENST00000355704.3_Silent_p.A431A|TBC1D22A_ENST00000407381.3_Silent_p.A450A|TBC1D22A_ENST00000406733.1_Silent_p.A462A	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	509						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		TTGCTTTTGCCGACGCCCCCA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		2,4404	4.2+/-10.8	0,2,2201	95	98	97		1527	-10.4	0	22	dbSNP_134	97	0,8600		0,0,4300	no	coding-synonymous	TBC1D22A	NM_014346.2		0,2,6501	TT,TC,CC	NA	0.0,0.0454,0.0154		509/518	47569242	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611	25771	25771			1309	protein-coding gene	gene with protein product			chromosome 22 open reading frame 4	C22orf4	NA		Standard	NM_014346	XM_005261496	NA	Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.1527C>T	22.37:g.47569242C>T		NA	B0QYI2|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	37	CCDS14078.1																																																																																			TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317600.3		+	ENST00000337137.4	Silent	SNP	22 : 47569242 - 47569242 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	835	106
MUC5B	727897	broad.mit.edu	37	11	1275968	1275968	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1275968C>T	ENST00000529681.1	+	35	15580	c.15522C>T	c.(15520-15522)aaC>aaT	p.N5174N	MUC5B_ENST00000447027.1_Silent_p.N5177N	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5174	VWFD 4.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCAGCAAGAACGGCGTGCTTG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	75	74			NA	NA	11		NA											NA				1275968		2131	4240	6371	SO:0001819	synonymous_variant			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983	727897	727897		Mucins	7516	protein-coding gene	gene with protein product		600770	mucin 5, subtype B, tracheobronchial	MUC5	NA	9804771	Standard	XM_001126093	NM_002458	NA	Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.15522C>T	11.37:g.1275968C>T		NA	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	37	CCDS44515.2																																																																																			MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390041.2		+	ENST00000529681.1	Silent	SNP	11 : 1275968 - 1275968 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	210	38
APCDD1L	164284	broad.mit.edu	37	20	57036492	57036492	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57036492G>A	ENST00000371149.3	-	4	1090	c.860C>T	c.(859-861)tCg>tTg	p.S287L	APCDD1L_ENST00000439429.1_Missense_Mutation_p.S298L|APCDD1L_ENST00000491015.1_5'UTR	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	287						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			CTCGCACCCCGAGCTGACCCA	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													10	10	10			NA	NA	20		NA											NA				57036492		2164	4254	6418	SO:0001583	missense			AK074647	CCDS13467.1	20q13.32	2006-07-07			ENSG00000198768	ENSG00000198768	164284	164284			26892	protein-coding gene	gene with protein product					NA		Standard	NM_153360	NM_153360	NA	Approved	FLJ90166	uc002xze.1	Q8NCL9	OTTHUMG00000032845	ENST00000371149.3:c.860C>T	20.37:g.57036492G>A	ENSP00000360191:p.Ser287Leu	NA		37	CCDS13467.1	.	.	.	.	.	.	.	.	.	.	G	1.949	-0.441587	0.04604	.	.	ENSG00000198768	ENST00000371149;ENST00000439429	T;T	0.18174	2.23;2.23	4.44	2.01	0.26516	.	1.721060	0.02886	N	0.133503	T	0.13756	0.0333	L	0.29908	0.895	0.09310	N	1	B;B	0.14805	0.011;0.006	B;B	0.08055	0.003;0.002	T	0.23619	-1.0183	10	0.23302	T	0.38	-1.2958	6.7257	0.23355	0.1959:0.1501:0.654:0.0	.	298;287	F5H6V6;Q8NCL9	.;APCDL_HUMAN	L	287;298	ENSP00000360191:S287L;ENSP00000413261:S298L	ENSP00000360191:S287L	S	-	2	0	APCDD1L	56469898	0.009000	0.17119	0.002000	0.10522	0.011000	0.07611	1.772000	0.38552	0.830000	0.34757	0.563000	0.77884	TCG	APCDD1L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079881.2		-	ENST00000371149.3	Missense_Mutation	SNP	20 : 57036492 - 57036492 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	83	16
RSPO3	84870	broad.mit.edu	37	6	127476492	127476492	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127476492G>T	ENST00000356698.4	+	4	1132	c.543G>T	c.(541-543)caG>caT	p.Q181H	RSPO3_ENST00000368317.3_Missense_Mutation_p.Q181H	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	181	TSP type-1.					extracellular region	heparin binding		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		AAATAATACAGCATCCTTCAG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	129	132			NA	NA	6		NA											NA				127476492		2203	4300	6503	SO:0001583	missense			BC022367	CCDS5135.1	6q22.33	2013-02-28	2011-06-29	2005-08-08	ENSG00000146374	ENSG00000146374	84870	84870		Endogenous ligands	20866	protein-coding gene	gene with protein product		610574	thrombospondin, type I, domain containing 2, R-spondin 3 homolog (Xenopus laevis)	THSD2	NA	10842357, 15469841	Standard	NM_032784	NM_032784	NA	Approved	FLJ14440	uc003qar.3	Q9BXY4	OTTHUMG00000015521	ENST00000356698.4:c.543G>T	6.37:g.127476492G>T	ENSP00000349131:p.Gln181His	NA	B2RC27|Q5VTV4|Q96K87	37	CCDS5135.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016045	0.54468	.	.	ENSG00000146374	ENST00000356698;ENST00000368317	D;D	0.81659	-1.52;-1.52	5.7	2.14	0.27477	.	0.051847	0.85682	D	0.000000	T	0.77458	0.4133	L	0.45470	1.425	0.44330	D	0.997217	D;D	0.76494	0.999;0.999	D;D	0.87578	0.997;0.998	T	0.74396	-0.3679	10	0.30854	T	0.27	-26.4136	9.0582	0.36419	0.4722:0.0:0.5278:0.0	.	181;181	Q9BXY4-2;Q9BXY4	.;RSPO3_HUMAN	H	181	ENSP00000349131:Q181H;ENSP00000357300:Q181H	ENSP00000349131:Q181H	Q	+	3	2	RSPO3	127518185	0.999000	0.42202	1.000000	0.80357	0.985000	0.73830	0.619000	0.24388	0.589000	0.29677	0.557000	0.71058	CAG	RSPO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042111.1		+	ENST00000356698.4	Missense_Mutation	SNP	6 : 127476492 - 127476492 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	439	76
TPRA1	131601	broad.mit.edu	37	3	127295733	127295733	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127295733G>T	ENST00000355552.3	-	5	725	c.349C>A	c.(349-351)Ctg>Atg	p.L117M	TPRA1_ENST00000489960.1_Missense_Mutation_p.L117M|TPRA1_ENST00000296210.7_Missense_Mutation_p.L117M|TPRA1_ENST00000450633.2_Missense_Mutation_p.L117M	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	117					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						ATCTCCCACAGGATCTGCACG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	74	75			NA	NA	3		NA											NA				127295733		2203	4300	6503	SO:0001583	missense			AK056759	CCDS3042.1, CCDS46899.1	3q21.2	2012-08-22	2009-07-08	2009-07-08	ENSG00000163870	ENSG00000163870	131601	131601		GPCR / Unclassified : 7TM orphan receptors	30413	protein-coding gene	gene with protein product	transmembrane protein 227	608336	G protein-coupled receptor 175	GPR175	NA	10342878	Standard	NM_016372	NM_001136053	NA	Approved	TPRA40, FLJ32197, TMEM227	uc003ejn.3	Q86W33	OTTHUMG00000159639	ENST00000355552.3:c.349C>A	3.37:g.127295733G>T	ENSP00000347748:p.Leu117Met	NA	A8MVB8|D3DNA9|Q8WZ24|Q96AJ6|Q9P2R4	37	CCDS3042.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.834041	0.71373	.	.	ENSG00000163870	ENST00000450633;ENST00000296210;ENST00000355552;ENST00000489960;ENST00000490290;ENST00000469111;ENST00000490643	.	.	.	4.51	2.66	0.31614	.	0.000000	0.85682	D	0.000000	T	0.67401	0.2889	L	0.51422	1.61	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.68678	-0.5345	9	0.72032	D	0.01	-11.9186	10.4878	0.44733	0.1617:0.0:0.8383:0.0	.	117;117	Q86W33-3;Q86W33	.;TPRA1_HUMAN	M	117	.	ENSP00000296210:L117M	L	-	1	2	TPRA1	128778423	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.232000	0.58645	1.006000	0.39211	0.591000	0.81541	CTG	TPRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356624.1		-	ENST00000355552.3	Missense_Mutation	SNP	3 : 127295733 - 127295733 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	287	57
EML1	2009	broad.mit.edu	37	14	100367375	100367375	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100367375C>A	ENST00000262233.6	+	9	1146	c.1007C>A	c.(1006-1008)tCt>tAt	p.S336Y	EML1_ENST00000334192.4_Splice_Site_p.S355Y|EML1_ENST00000327921.9_Splice_Site_p.S324Y	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	336						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TTCTCAAAATCTGTAAGTATG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													218	191	200			NA	NA	14		NA											NA				100367375		2203	4300	6503	SO:0001630	splice_region_variant			AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629	2009	2009		WD repeat domain containing	3330	protein-coding gene	gene with protein product		602033		EMAPL	NA	9226380, 10521658	Standard	NM_001008707	XM_005267397	NA	Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.1008+1C>A	14.37:g.100367375C>A		NA	Q86U15|Q8N536|Q8N5C4|Q8WWL6	37	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927097	0.92389	.	.	ENSG00000066629	ENST00000554479;ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	T;T;T;T	0.30448	2.74;1.58;1.53;1.58	5.34	5.34	0.76211	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.57740	0.2074	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;0.982;1.0;0.999	D;D;P;D;D	0.91635	0.998;0.994;0.839;0.999;0.996	T	0.61168	-0.7117	10	0.87932	D	0	-18.0254	19.0383	0.92987	0.0:1.0:0.0:0.0	.	324;324;336;355;355	F8W717;B7Z650;O00423;O00423-3;B3KXA3	.;.;EMAL1_HUMAN;.;.	Y	323;324;336;355;355	ENSP00000451346:S323Y;ENSP00000327384:S324Y;ENSP00000262233:S336Y;ENSP00000334314:S355Y	ENSP00000262233:S336Y	S	+	2	0	EML1	99437128	1.000000	0.71417	0.973000	0.42090	0.908000	0.53690	7.355000	0.79434	2.491000	0.84063	0.591000	0.81541	TCT	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413943.1	Missense_Mutation	+	ENST00000262233.6	Splice_Site	SNP	14 : 100367375 - 100367375 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	388	70
TMEM39A	55254	broad.mit.edu	37	3	119171296	119171296	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119171296C>A	ENST00000319172.5	-	4	838	c.418G>T	c.(418-420)Gag>Tag	p.E140*	TMEM39A_ENST00000486159.1_Intron	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	140						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		ACTGTTACCTCTGAGATGAGA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	73	75			NA	NA	3		NA											NA				119171296		2203	4300	6503	SO:0001587	stop_gained			BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142	55254	55254			25600	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_018266	NM_018266	NA	Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.418G>T	3.37:g.119171296C>A	ENSP00000326063:p.Glu140*	NA	D3DN80|Q53FN4|Q53GI1|Q6PKB5	37	CCDS2987.1	.	.	.	.	.	.	.	.	.	.	C	37	6.526548	0.97637	.	.	ENSG00000176142	ENST00000319172;ENST00000468676;ENST00000497993	.	.	.	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-9.7115	17.331	0.87264	0.0:1.0:0.0:0.0	.	.	.	.	X	140	.	ENSP00000326063:E140X	E	-	1	0	TMEM39A	120653986	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.459000	0.80802	2.559000	0.86315	0.655000	0.94253	GAG	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354941.3		-	ENST00000319172.5	Nonsense_Mutation	SNP	3 : 119171296 - 119171296 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	195	17
ZCCHC11	23318	broad.mit.edu	37	1	52941046	52941046	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52941046T>C	ENST00000371544.3	-	13	2447	c.2185A>G	c.(2185-2187)Aaa>Gaa	p.K729E	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.K729E	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	729					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TTGCTTATTTTCCCCTTCTCT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	144	143			NA	NA	1		NA											NA				52941046		2203	4300	6503	SO:0001583	missense			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744	23318	23318		Zinc fingers, CCHC domain containing	28981	protein-coding gene	gene with protein product	TUTase4	613692			NA	8724849, 12239557	Standard	XM_038288	NM_015269	NA	Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.2185A>G	1.37:g.52941046T>C	ENSP00000360599:p.Lys729Glu	NA	A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	37	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.525816	0.44969	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.52295	0.67;0.68;0.7;0.74	5.49	5.49	0.81192	.	0.209202	0.49305	D	0.000159	T	0.28234	0.0697	L	0.32530	0.975	0.80722	D	1	B;P	0.44429	0.209;0.835	B;B	0.35278	0.051;0.199	T	0.18967	-1.0320	10	0.06365	T	0.9	.	10.0083	0.41970	0.0:0.0758:0.0:0.9242	.	488;729	E9PKX1;Q5TAX3	.;TUT4_HUMAN	E	729;729;658;488	ENSP00000257177:K729E;ENSP00000360599:K729E;ENSP00000433486:K658E;ENSP00000435256:K488E	ENSP00000257177:K729E	K	-	1	0	ZCCHC11	52713634	0.998000	0.40836	0.999000	0.59377	0.988000	0.76386	2.911000	0.48774	2.077000	0.62373	0.455000	0.32223	AAA	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022462.1		-	ENST00000371544.3	Missense_Mutation	SNP	1 : 52941046 - 52941046 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	908	202
SIPA1	6494	broad.mit.edu	37	11	65408968	65408968	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65408968G>A	ENST00000527525.1	+	2	823	c.576G>A	c.(574-576)gcG>gcA	p.A192A	SIPA1_ENST00000394224.3_Silent_p.A192A|SIPA1_ENST00000394227.3_Silent_p.A192A|SIPA1_ENST00000534313.1_Silent_p.A192A			Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	192					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						TGCCCAACGCGGCCGTGTCCA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	37	37			NA	NA	11		NA											NA				65408968		2201	4296	6497	SO:0001819	synonymous_variant			AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445	6494	6494			10885	protein-coding gene	gene with protein product		602180			NA	9027487	Standard	NM_006747	NM_006747	NA	Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000527525.1:c.576G>A	11.37:g.65408968G>A		NA	O14518|O60484|O60618|Q2YD83	37																																																																																				SIPA1-002	NOVEL	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000390355.1		+	ENST00000527525.1	Silent	SNP	11 : 65408968 - 65408968 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	285	55
IL1RAPL2	26280	broad.mit.edu	37	X	104999178	104999178	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:104999178G>T	ENST00000372582.1	+	10	1956	c.1200G>T	c.(1198-1200)aaG>aaT	p.K400N	IL1RAPL2_ENST00000485671.1_3'UTR|IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.K400N	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	400	TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAGACAACAAGGAATATGATG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	90	93			NA	NA	X		NA											NA				104999178		2203	4300	6503	SO:0001583	missense			AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108	26280	26280		Interleukins and interleukin receptors, Immunoglobulin superfamily / Immunoglobulin-like domain containing	5997	protein-coding gene	gene with protein product		300277			NA	10757639	Standard	NM_017416	NM_017416	NA	Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1200G>T	X.37:g.104999178G>T	ENSP00000361663:p.Lys400Asn	NA	Q9NZN0	37	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954421	0.53293	.	.	ENSG00000189108	ENST00000372582;ENST00000344799;ENST00000538500	T;T;T	0.02787	4.16;4.16;4.16	5.62	2.57	0.30868	Toll/interleukin-1 receptor homology (TIR) domain (2);	0.000000	0.64402	D	0.000004	T	0.16599	0.0399	M	0.91972	3.26	0.53005	D	0.999968	D	0.76494	0.999	D	0.80764	0.994	T	0.00087	-1.2092	10	0.87932	D	0	.	8.5678	0.33550	0.4625:0.0:0.5375:0.0	.	400	Q9NP60	IRPL2_HUMAN	N	400;400;5	ENSP00000361663:K400N;ENSP00000344976:K400N;ENSP00000445576:K5N	ENSP00000344976:K400N	K	+	3	2	IL1RAPL2	104885834	0.996000	0.38824	0.999000	0.59377	0.997000	0.91878	0.455000	0.21843	0.067000	0.16545	0.600000	0.82982	AAG	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057785.1		+	ENST00000372582.1	Missense_Mutation	SNP	X : 104999178 - 104999178 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	290	84
DNTT	1791	broad.mit.edu	37	10	98064324	98064324	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98064324G>A	ENST00000371174.2	+	1	172	c.70G>A	c.(70-72)Gcc>Acc	p.A24T	RP11-35J23.1_ENST00000454484.2_RNA|DNTT_ENST00000419175.1_Missense_Mutation_p.A24T			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	24					DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		TGCCTTGATGGCCTCCTCTCC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	55	53			NA	NA	10		NA											NA				98064324		2203	4300	6503	SO:0001583	missense			AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	1791	1791	2.7.7.31	DNA polymerases	2983	protein-coding gene	gene with protein product	Terminal deoxynucleotidyltransferase	187410	deoxynucleotidyltransferase, terminal		NA		Standard	NM_004088	NM_004088	NA	Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.70G>A	10.37:g.98064324G>A	ENSP00000360216:p.Ala24Thr	NA	Q53FH1|Q5W103|Q96E50	37	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.408741	0.25378	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.11712	2.75;2.75	5.76	0.955	0.19602	.	0.981743	0.08379	N	0.954821	T	0.11024	0.0269	M	0.66939	2.045	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.40117	-0.9580	10	0.25106	T	0.35	-4.0979	2.978	0.05943	0.0949:0.13:0.2973:0.4778	.	24;24	P04053-2;P04053	.;TDT_HUMAN	T	24	ENSP00000401169:A24T;ENSP00000360216:A24T	ENSP00000360216:A24T	A	+	1	0	DNTT	98054314	0.005000	0.15991	0.048000	0.18961	0.138000	0.21146	0.775000	0.26689	0.688000	0.31529	0.655000	0.94253	GCC	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049607.1		+	ENST00000371174.2	Missense_Mutation	SNP	10 : 98064324 - 98064324 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	386	71
SSRP1	6749	broad.mit.edu	37	11	57102123	57102123	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57102123C>T	ENST00000278412.2	-	3	321		c.e3-1			NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	NA					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						GACCATCATTCTGTAAGAAAA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(89;1000 1340 6884 23013 41819)							NA				0													128	120	122			NA	NA	11		NA											NA				57102123		2201	4296	6497	SO:0001630	splice_region_variant			M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136	6749	6749			11327	protein-coding gene	gene with protein product	facilitates chromatin remodeling 80 kDa subunit	604328			NA	1372440	Standard	NM_003146	NM_003146	NA	Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.55-1G>A	11.37:g.57102123C>T		NA	Q5BJG8	37	CCDS7952.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909000	0.72868	.	.	ENSG00000149136	ENST00000278412	.	.	.	6.0	6.0	0.97389	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.09	0.97815	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SSRP1	56858699	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	7.216000	0.77974	2.848000	0.98002	0.655000	0.94253	.	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392460.1	Intron	-	ENST00000278412.2	Splice_Site	SNP	11 : 57102123 - 57102123 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	543	91
TRPV2	51393	broad.mit.edu	37	17	16321163	16321163	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16321163C>T	ENST00000338560.7	+	2	580	c.181C>T	c.(181-183)Cga>Tga	p.R61*	TRPV2_ENST00000577397.1_5'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	61	Required for interaction with SLC50A1 (By similarity).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCTCAACTACCGAAAGGGAAC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	33	32	32		181	-2.2	0	17		32	0,8600		0,0,4300	no	stop-gained	TRPV2	NM_016113.4		0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077		61/765	16321163	1,13005	2203	4300	6503	SO:0001587	stop_gained			AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688	51393	51393		Voltage-gated ion channels / Transient receptor potential cation channels, Ankyrin repeat domain containing	18082	protein-coding gene	gene with protein product		606676			NA	10201375, 16382100	Standard	NM_016113	NM_016113	NA	Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.181C>T	17.37:g.16321163C>T	ENSP00000342222:p.Arg61*	NA	A6NML2|A8K0Z0|Q9Y670	37	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	C	37	6.001196	0.97189	2.27E-4	0.0	ENSG00000187688	ENST00000338560	.	.	.	5.39	-2.24	0.06909	.	1.424990	0.04676	N	0.411446	.	.	.	.	.	.	0.19300	N	0.999979	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-37.9845	6.2534	0.20859	0.4311:0.4048:0.0989:0.0652	.	.	.	.	X	61	.	ENSP00000342222:R61X	R	+	1	2	TRPV2	16261888	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.436000	0.06922	-0.909000	0.03852	-2.039000	0.00418	CGA	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130464.2		+	ENST00000338560.7	Nonsense_Mutation	SNP	17 : 16321163 - 16321163 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	200	26
JAG2	3714	broad.mit.edu	37	14	105613723	105613723	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105613723C>T	ENST00000331782.3	-	20	2822	c.2419G>A	c.(2419-2421)Ggc>Agc	p.G807S	JAG2_ENST00000347004.2_Missense_Mutation_p.G769S	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	807	EGF-like 15; calcium-binding (Potential).				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CAGTTGACGCCGTCAACACAG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	27	28			NA	NA	14		NA											NA				105613723		2176	4287	6463	SO:0001583	missense			AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916	3714	3714			6189	protein-coding gene	gene with protein product		602570			NA	9315665, 10662552	Standard		NM_002226	NA	Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.2419G>A	14.37:g.105613723C>T	ENSP00000328169:p.Gly807Ser	NA	Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	37	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	c	28.3	4.906351	0.92107	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.96459	-4.02;-4.02	4.19	4.19	0.49359	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97031	0.9030	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.955;1.0	D	0.97566	1.0101	10	0.62326	D	0.03	.	15.6731	0.77295	0.0:1.0:0.0:0.0	.	769;807	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	S	807;769	ENSP00000328169:G807S;ENSP00000328566:G769S	ENSP00000328169:G807S	G	-	1	0	JAG2	104684768	0.987000	0.35691	0.868000	0.34077	0.640000	0.38277	5.757000	0.68766	2.172000	0.68678	0.446000	0.29264	GGC	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276506.2		-	ENST00000331782.3	Missense_Mutation	SNP	14 : 105613723 - 105613723 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	84	12
IGSF9B	22997	broad.mit.edu	37	11	133790821	133790821	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133790821C>A	ENST00000533871.2	-	18	3029	c.2799G>T	c.(2797-2799)caG>caT	p.Q933H	IGSF9B_ENST00000321016.8_Missense_Mutation_p.Q933H	NM_001277285.1	NP_001264214.1	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	933	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCCCGCGGGGCTGGAACCGAG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	38	36			NA	NA	11		NA											NA				133790821		1970	4131	6101	SO:0001583	missense			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20			22997	22997		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	32326	protein-coding gene	gene with protein product		613773			NA		Standard	XM_290502	NM_001277285	NA	Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000533871.2:c.2799G>T	11.37:g.133790821C>A	ENSP00000436552:p.Gln933His	NA		37		.	.	.	.	.	.	.	.	.	.	C	10.43	1.348126	0.24426	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.66280	0.13;-0.2	4.44	3.52	0.40303	.	0.000000	0.42420	D	0.000714	T	0.40322	0.1112	N	0.17082	0.46	0.36966	D	0.893595	B	0.06786	0.001	B	0.04013	0.001	T	0.30822	-0.9965	10	0.27785	T	0.31	.	6.611	0.22751	0.0:0.7898:0.0:0.2102	.	933	Q9UPX0	TUTLB_HUMAN	H	933;775	ENSP00000317980:Q933H;ENSP00000436552:Q775H	ENSP00000317980:Q933H	Q	-	3	2	IGSF9B	133296031	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.509000	0.53386	1.081000	0.41110	0.561000	0.74099	CAG	IGSF9B-002	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000471431.1		-	ENST00000533871.2	Missense_Mutation	SNP	11 : 133790821 - 133790821 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	377	82
PRKDC	5591	broad.mit.edu	37	8	48743248	48743248	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:48743248T>C	ENST00000523565.1	-	0	8370				PRKDC_ENST00000338368.3_Missense_Mutation_p.Y2771C|PRKDC_ENST00000314191.2_Missense_Mutation_p.Y2771C			P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	NA					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GTAGCTTCTGTACAGAACGAC	0.498		NA						Non-homologous end-joining						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(79;1091 1253 12329 31680 40677)							NA				0													96	102	100			NA	NA	8		NA											NA				48743248		2015	4185	6200	SO:0001623	5_prime_UTR_variant				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	5591	5591	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1	NA	7638222	Standard	NM_001081640	NM_001081640	NA	Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000523565.1:c.-5138A>G	8.37:g.48743248T>C		NA	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	37		.	.	.	.	.	.	.	.	.	.	T	23.3	4.399114	0.83120	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.03553	3.96;3.89	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000002	T	0.22589	0.0545	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.85130	0.997;0.85	T	0.01405	-1.1363	10	0.87932	D	0	.	15.7828	0.78275	0.0:0.0:0.0:1.0	.	2771;2772	E7EUY0;P78527	.;PRKDC_HUMAN	C	2771	ENSP00000313420:Y2771C;ENSP00000345182:Y2771C	ENSP00000313420:Y2771C	Y	-	2	0	PRKDC	48905801	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.681000	0.84073	2.141000	0.66446	0.533000	0.62120	TAC	PRKDC-002	KNOWN	basic	processed_transcript	NA	protein_coding	OTTHUMT00000377896.1		-	ENST00000523565.1	5'UTR	SNP	8 : 48743248 - 48743248 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	335	50
MDN1	23195	broad.mit.edu	37	6	90402593	90402593	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90402593G>A	ENST00000369393.3	-	63	10271	c.10156C>T	c.(10156-10158)Ctg>Ttg	p.L3386L	MDN1_ENST00000428876.1_Silent_p.L3386L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3386					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCCTCTGACAGCCGCTTCCGG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	53	55			NA	NA	6		NA											NA				90402593		2203	4300	6503	SO:0001819	synonymous_variant			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159	23195	23195			18302	protein-coding gene	gene with protein product					NA	9205841, 12102729	Standard		XM_005248699	NA	Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.10156C>T	6.37:g.90402593G>A		NA	O15019|Q5T794	37	CCDS5024.1																																																																																			MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041514.2		-	ENST00000369393.3	Silent	SNP	6 : 90402593 - 90402593 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	26
MADD	8567	broad.mit.edu	37	11	47296266	47296266	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47296266G>A	ENST00000342922.4	+	3	572	c.215G>A	c.(214-216)cGg>cAg	p.R72Q	MADD_ENST00000349238.3_Missense_Mutation_p.R72Q|MADD_ENST00000395344.3_Missense_Mutation_p.R72Q|MADD_ENST00000407859.3_Missense_Mutation_p.R72Q|MADD_ENST00000402192.2_Missense_Mutation_p.R72Q|MADD_ENST00000402799.1_Missense_Mutation_p.R72Q|MADD_ENST00000406482.1_Missense_Mutation_p.R72Q|MADD_ENST00000395336.3_Missense_Mutation_p.R72Q|MADD_ENST00000311027.5_Missense_Mutation_p.R72Q	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	72	UDENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		ATGAGCCTTCGGGATGATACC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	142	143			NA	NA	11		NA											NA				47296266		2201	4298	6499	SO:0001583	missense			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514	8567	8567		DENN/MADD domain containing	6766	protein-coding gene	gene with protein product		603584			NA	9115275, 9796103	Standard		NM_130476	NA	Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000342922.4:c.215G>A	11.37:g.47296266G>A	ENSP00000343902:p.Arg72Gln	NA	D3DQR4|O15065|O15293|Q15732|Q15741|Q8IWD7|Q8WXG3|Q8WXG4|Q8WXG5|Q8WZ63	37	CCDS7931.1	.	.	.	.	.	.	.	.	.	.	G	37	6.289652	0.97444	.	.	ENSG00000110514	ENST00000453571;ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000444117;ENST00000395336;ENST00000402192;ENST00000422579	T;T;T;T;T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01	6.17	6.17	0.99709	uDENN (3);	0.054564	0.85682	D	0.000000	T	0.68201	0.2975	M	0.75777	2.31	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.997;1.0;0.999;1.0;1.0;0.998;1.0;0.998;0.998	D;D;D;D;D;D;P;D;D;D	0.91635	0.999;0.967;0.997;0.955;0.97;0.97;0.89;0.996;0.951;0.944	T	0.67201	-0.5730	10	0.66056	D	0.02	-19.198	20.8794	0.99867	0.0:0.0:1.0:0.0	.	72;72;72;72;72;72;72;72;72;72	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	Q	72	ENSP00000343902:R72Q;ENSP00000385585:R72Q;ENSP00000384435:R72Q;ENSP00000304505:R72Q;ENSP00000310933:R72Q;ENSP00000384204:R72Q;ENSP00000378753:R72Q;ENSP00000413116:R72Q;ENSP00000378745:R72Q;ENSP00000384287:R72Q;ENSP00000402364:R72Q	ENSP00000310933:R72Q	R	+	2	0	MADD	47252842	1.000000	0.71417	0.988000	0.46212	0.965000	0.64279	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	CGG	MADD-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317741.2		+	ENST00000342922.4	Missense_Mutation	SNP	11 : 47296266 - 47296266 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1308	259
PTPRO	5800	broad.mit.edu	37	12	15654981	15654981	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15654981C>T	ENST00000281171.4	+	5	1419	c.1089C>T	c.(1087-1089)atC>atT	p.I363I	PTPRO_ENST00000348962.2_Silent_p.I363I|PTPRO_ENST00000543886.1_Silent_p.I363I	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	363	Fibronectin type-III 4.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GGTTCCATATCCATATTGAAC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	69	69			NA	NA	12		NA											NA				15654981		2203	4300	6503	SO:0001819	synonymous_variant			U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490	5800	5800		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing	9678	protein-coding gene	gene with protein product	osteoclastic transmembrane protein-tyrosine phosphatase	600579			NA	7519601, 7665166, 21722858	Standard		NM_030667	NA	Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.1089C>T	12.37:g.15654981C>T		NA	A0AV39|Q13101	37	CCDS8675.1																																																																																			PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401079.1		+	ENST00000281171.4	Silent	SNP	12 : 15654981 - 15654981 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	412	76
GRIN2C	2905	broad.mit.edu	37	17	72843650	72843650	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72843650C>T	ENST00000293190.5	-	9	1944	c.1798G>A	c.(1798-1800)Ggc>Agc	p.G600S	GRIN2C_ENST00000347612.4_Missense_Mutation_p.G600S	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	600					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	ACGGACTTGCCGATAGTGAAA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	26	25			NA	NA	17		NA											NA				72843650		2203	4297	6500	SO:0001583	missense				CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509	2905	2905		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4587	protein-coding gene	gene with protein product		138254		NMDAR2C	NA	9480759	Standard		NM_001278553	NA	Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.1798G>A	17.37:g.72843650C>T	ENSP00000293190:p.Gly600Ser	NA	B2RTT1	37	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605203	0.46423	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.49720	0.77	4.29	4.29	0.51040	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.54679	0.1873	N	0.17674	0.51	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.60929	-0.7165	10	0.56958	D	0.05	.	16.89	0.86084	0.0:1.0:0.0:0.0	.	634;600	Q8IW23;Q14957	.;NMDE3_HUMAN	S	600;634	ENSP00000293190:G600S	ENSP00000293190:G600S	G	-	1	0	GRIN2C	70355245	1.000000	0.71417	0.995000	0.50966	0.500000	0.33767	7.599000	0.82757	2.357000	0.79964	0.561000	0.74099	GGC	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000103824.1		-	ENST00000293190.5	Missense_Mutation	SNP	17 : 72843650 - 72843650 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	245	34
C3orf58	205428	broad.mit.edu	37	3	143708593	143708593	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:143708593G>A	ENST00000495414.1	+	3	1028	c.576G>A	c.(574-576)gaG>gaA	p.E192E	C3orf58_ENST00000441925.2_Silent_p.E163E|C3orf58_ENST00000315691.3_Silent_p.E401E|C3orf58_ENST00000493396.1_Intron	NM_001134470.1	NP_001127942.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	401						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGCTGGATGAGTGTGCCAACC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	87	86			NA	NA	3		NA											NA				143708593		2203	4300	6503	SO:0001819	synonymous_variant			AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744	205428	205428			28490	protein-coding gene	gene with protein product	deleted in autism 1, hypoxia and Akt induced stem cell factor	612200			NA	21283809, 23784961, 24269490	Standard	NM_173552	NM_173552	NA	Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000495414.1:c.576G>A	3.37:g.143708593G>A		NA	B2RCF2	37	CCDS46929.1																																																																																			C3orf58-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355039.1		+	ENST00000495414.1	Silent	SNP	3 : 143708593 - 143708593 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	381	67
TSPAN11	441631	broad.mit.edu	37	12	31136041	31136041	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:31136041C>A	ENST00000261177.9	+	7	717	c.658C>A	c.(658-660)Ctg>Atg	p.L220M	TSPAN11_ENST00000546076.1_Missense_Mutation_p.L220M|TSPAN11_ENST00000535215.1_Missense_Mutation_p.L149M|TSPAN11_ENST00000544427.1_Missense_Mutation_p.L210M	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	220						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GGCCGACCACCTGCTGCTTAT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	31	32			NA	NA	12		NA											NA				31136041		2203	4300	6503	SO:0001583	missense				CCDS31765.1	12p11.21	2013-02-14				ENSG00000110900	441631	441631		Tetraspanins	30795	protein-coding gene	gene with protein product					NA		Standard	XM_497334	NM_001080509	NA	Approved		uc001rjp.3	A1L157		ENST00000261177.9:c.658C>A	12.37:g.31136041C>A	ENSP00000261177:p.Leu220Met	NA	A1L158|B2RUX6	37	CCDS31765.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.433800	0.43224	.	.	ENSG00000110900	ENST00000546076;ENST00000535215;ENST00000544427;ENST00000261177	T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39	3.32	2.42	0.29668	Tetraspanin, EC2 domain (1);	0.210787	0.30051	U	0.010522	D	0.86138	0.5861	M	0.75150	2.29	0.39744	D	0.971792	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	D	0.83375	0.0009	10	0.30078	T	0.28	.	8.4767	0.33018	0.0:0.878:0.0:0.122	.	210;220	F5H0F0;A1L157	.;TSN11_HUMAN	M	220;149;210;220	ENSP00000437403:L220M;ENSP00000445503:L149M;ENSP00000439895:L210M;ENSP00000261177:L220M	ENSP00000261177:L220M	L	+	1	2	TSPAN11	31027308	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.296000	0.59055	0.701000	0.31803	0.467000	0.42956	CTG	TSPAN11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399888.1		+	ENST00000261177.9	Missense_Mutation	SNP	12 : 31136041 - 31136041 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	164	33
FPR1	2357	broad.mit.edu	37	19	52250008	52250008	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52250008G>T	ENST00000595042.1	-	3	381	c.240C>A	c.(238-240)ttC>ttA	p.F80L	FPR1_ENST00000304748.4_Missense_Mutation_p.F80L	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	80					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	TGACCATGAAGAATGGCAAAG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	107	118			NA	NA	19		NA											NA				52250008		2203	4300	6503	SO:0001583	missense			M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051	2357	2357		GPCR / Class A : Formyl peptide receptors	3826	protein-coding gene	gene with protein product		136537			NA	2161213, 12595898	Standard	NM_002029	NM_001193306	NA	Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.240C>A	19.37:g.52250008G>T	ENSP00000471493:p.Phe80Leu	NA	Q14939|Q7Z6A4|Q86U52|Q9NS48	37	CCDS12839.1	.	.	.	.	.	.	.	.	.	.	.	1.356	-0.590198	0.03799	.	.	ENSG00000171051	ENST00000304748	T	0.37235	1.21	3.72	-1.65	0.08291	GPCR, rhodopsin-like superfamily (1);	0.157463	0.41500	D	0.000871	T	0.30978	0.0782	L	0.53617	1.68	0.09310	N	0.999998	B	0.23806	0.091	B	0.38803	0.282	T	0.42616	-0.9441	10	0.08179	T	0.78	.	8.2744	0.31864	0.3968:0.0:0.6032:0.0	.	80	P21462	FPR1_HUMAN	L	80	ENSP00000302707:F80L	ENSP00000302707:F80L	F	-	3	2	FPR1	56941820	0.109000	0.22037	0.001000	0.08648	0.002000	0.02628	0.430000	0.21428	-0.301000	0.08882	-0.251000	0.11542	TTC	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466905.1		-	ENST00000595042.1	Missense_Mutation	SNP	19 : 52250008 - 52250008 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	388	69
ZNF484	83744	broad.mit.edu	37	9	95610117	95610117	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95610117G>A	ENST00000375495.3	-	5	1100	c.952C>T	c.(952-954)Cgt>Tgt	p.R318C	ZNF484_ENST00000395506.3_Missense_Mutation_p.R320C|ZNF484_ENST00000332591.6_Missense_Mutation_p.R282C|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395505.2_Missense_Mutation_p.R282C	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						GTTTTCTGACGGTTTGACTTG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	95	97			NA	NA	9		NA											NA				95610117		2203	4300	6503	SO:0001583	missense			AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081	83744	83744		Zinc fingers, C2H2-type, -	23385	protein-coding gene	gene with protein product					NA		Standard	XM_046861	NM_001007101	NA	Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.952C>T	9.37:g.95610117G>A	ENSP00000364645:p.Arg318Cys	NA		37	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	6.193	0.403864	0.11754	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.07021	3.23;3.37;3.39;3.23	2.44	1.53	0.23141	.	.	.	.	.	T	0.05547	0.0146	L	0.29908	0.895	0.09310	N	1	P;P	0.46327	0.876;0.876	B;B	0.34452	0.183;0.118	T	0.34304	-0.9834	9	0.87932	D	0	.	8.5598	0.33503	0.0:0.0:0.7684:0.2316	.	320;318	B4DRI2;Q5JVG2	.;ZN484_HUMAN	C	282;320;318;282	ENSP00000378881:R282C;ENSP00000378882:R320C;ENSP00000364645:R318C;ENSP00000364646:R282C	ENSP00000364646:R282C	R	-	1	0	ZNF484	94649938	0.000000	0.05858	0.044000	0.18714	0.170000	0.22686	-0.166000	0.09954	0.585000	0.29608	-0.172000	0.13284	CGT	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053111.2		-	ENST00000375495.3	Missense_Mutation	SNP	9 : 95610117 - 95610117 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	443	77
TRIM4	89122	broad.mit.edu	37	7	99489912	99489912	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99489912G>T	ENST00000355947.2	-	7	1506	c.1377C>A	c.(1375-1377)ttC>ttA	p.F459L	TRIM4_ENST00000349062.2_Missense_Mutation_p.F433L	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	459	B30.2/SPRY.				protein trimerization	cytoplasm|plasma membrane	zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				CAGCGCTGTAGAAGGAGACAT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	141	143			NA	NA	7		NA											NA				99489912		2203	4300	6503	SO:0001583	missense			AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833	89122	89122		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	16275	protein-coding gene	gene with protein product	tripartite motif protein TRIM4, tripartite motif protein 4		tripartite motif-containing 4		NA	11331580	Standard	NM_033017	NM_033017	NA	Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.1377C>A	7.37:g.99489912G>T	ENSP00000348216:p.Phe459Leu	NA	A4D298|Q75MK1|Q96F06|Q9C036	37	CCDS5679.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609670	0.66558	.	.	ENSG00000146833	ENST00000355947;ENST00000349062;ENST00000542799	D;D	0.89343	-2.5;-2.5	2.64	2.64	0.31445	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	D	0.92289	0.7554	M	0.90309	3.105	0.80722	D	1	D;D	0.56287	0.969;0.975	P;P	0.55087	0.656;0.768	D	0.91861	0.5499	9	0.87932	D	0	.	5.5083	0.16866	0.1527:0.0:0.8473:0.0	.	433;459	Q9C037-2;Q9C037	.;TRIM4_HUMAN	L	459;433;289	ENSP00000348216:F459L;ENSP00000275736:F433L	ENSP00000275736:F433L	F	-	3	2	TRIM4	99327848	1.000000	0.71417	0.919000	0.36401	0.878000	0.50629	1.115000	0.31209	1.806000	0.52798	0.655000	0.94253	TTC	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345050.1		-	ENST00000355947.2	Missense_Mutation	SNP	7 : 99489912 - 99489912 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1106	204
MECOM	2122	broad.mit.edu	37	3	168806814	168806814	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:168806814G>T	ENST00000464456.1	-	14	4168	c.2968C>A	c.(2968-2970)Ccg>Acg	p.P990T	MECOM_ENST00000264674.3_Missense_Mutation_p.P1064T|MECOM_ENST00000433243.2_Missense_Mutation_p.P1000T|MECOM_ENST00000472280.1_Missense_Mutation_p.P1000T|MECOM_ENST00000460814.1_Missense_Mutation_p.P990T|MECOM_ENST00000392736.3_Missense_Mutation_p.P999T|MECOM_ENST00000494292.1_Missense_Mutation_p.P1178T|MECOM_ENST00000468789.1_Missense_Mutation_p.P999T	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTGTGTAACGGCTGCTTAAGT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	120	122			NA	NA	3		NA											NA				168806814		2203	4300	6503	SO:0001583	missense			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276	2122	2122		Zinc fingers, C2H2-type	3498	protein-coding gene	gene with protein product		165215	myelodysplasia syndrome 1, ecotropic viral integration site 1	MDS1, EVI1	NA	2115646, 8171026, 8643684	Standard	NM_005241, NM_004991	NM_001105077	NA	Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2968C>A	3.37:g.168806814G>T	ENSP00000419770:p.Pro990Thr	NA	Q13466|Q6FH90	37	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	G	0.023	-1.399013	0.01165	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.04049	3.78;3.78;3.73;3.88;3.73;3.78;3.72;3.88	5.63	4.75	0.60458	.	0.188744	0.37857	N	0.001913	T	0.02230	0.0069	N	0.03154	-0.405	0.54753	D	0.999988	B;B;B;B;B	0.31193	0.312;0.028;0.208;0.069;0.017	B;B;B;B;B	0.25884	0.064;0.027;0.029;0.043;0.012	T	0.39663	-0.9603	10	0.02654	T	1	-3.2994	16.4979	0.84250	0.0:0.0:0.8684:0.1316	.	1187;991;1178;1064;999	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	T	1064;999;990;1000;1178;999;990;1000	ENSP00000264674:P1064T;ENSP00000376493:P999T;ENSP00000419770:P990T;ENSP00000420048:P1000T;ENSP00000417899:P1178T;ENSP00000419995:P999T;ENSP00000420466:P990T;ENSP00000394302:P1000T	ENSP00000264674:P1064T	P	-	1	0	MECOM	170289508	1.000000	0.71417	1.000000	0.80357	0.008000	0.06430	6.803000	0.75180	1.502000	0.48669	0.655000	0.94253	CCG	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351519.1		-	ENST00000464456.1	Missense_Mutation	SNP	3 : 168806814 - 168806814 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	553	76
ZNF260	339324	broad.mit.edu	37	19	37005025	37005025	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37005025G>T	ENST00000523638.1	-	3	2237	c.1116C>A	c.(1114-1116)ttC>ttA	p.F372L	ZNF260_ENST00000588993.1_Missense_Mutation_p.F372L|ZNF260_ENST00000592282.1_Missense_Mutation_p.F372L|ZNF260_ENST00000593142.1_Missense_Mutation_p.F372L	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	372					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					CAAGGGTTGAGAACTGAGAAA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	109	112			NA	NA	19		NA											NA				37005025		2203	4300	6503	SO:0001583	missense			AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004	339324	339324		Zinc fingers, C2H2-type	13499	protein-coding gene	gene with protein product		613749			NA		Standard	NM_001012756	NM_001166036	NA	Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.1116C>A	19.37:g.37005025G>T	ENSP00000429803:p.Phe372Leu	NA	Q0VF43	37	CCDS33003.1	.	.	.	.	.	.	.	.	.	.	G	5.310	0.242476	0.10077	.	.	ENSG00000254004	ENST00000523638	T	0.59083	0.29	4.17	3.04	0.35103	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31451	0.0797	N	0.03294	-0.36	0.09310	N	0.999996	B	0.34015	0.435	B	0.32393	0.145	T	0.07028	-1.0794	9	0.20046	T	0.44	.	11.7824	0.52021	0.0:0.1799:0.8201:0.0	.	372	Q3ZCT1	ZN260_HUMAN	L	372	ENSP00000429803:F372L	ENSP00000429803:F372L	F	-	3	2	ZNF260	41696865	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	-2.041000	0.01415	2.286000	0.76751	0.561000	0.74099	TTC	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109564.2		-	ENST00000523638.1	Missense_Mutation	SNP	19 : 37005025 - 37005025 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	601	104
ALG10B	144245	broad.mit.edu	37	12	38714900	38714900	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:38714900G>A	ENST00000308742.4	+	3	1623	c.1307G>A	c.(1306-1308)aGa>aAa	p.R436K	ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	436					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				CCCACATCCAGACTTGTTTGT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													190	187	188			NA	NA	12		NA											NA				38714900		2203	4299	6502	SO:0001583	missense			AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	144245	144245	2.4.1.256		31088	protein-coding gene	gene with protein product	potassium channel regulator 1, dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase		asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)		NA		Standard	NM_001013620	NM_001013620	NA	Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.1307G>A	12.37:g.38714900G>A	ENSP00000310120:p.Arg436Lys	NA	B2RPF4	37	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	g	0.031	-1.336137	0.01287	.	.	ENSG00000175548	ENST00000308742	T	0.30981	1.51	3.49	1.67	0.24075	.	0.226336	0.50627	N	0.000102	T	0.15349	0.0370	N	0.21583	0.68	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09271	-1.0682	10	0.15499	T	0.54	.	5.535	0.17005	0.3517:0.0:0.6483:0.0	.	436	Q5I7T1	AG10B_HUMAN	K	436	ENSP00000310120:R436K	ENSP00000310120:R436K	R	+	2	0	ALG10B	37001167	0.962000	0.33011	0.782000	0.31804	0.057000	0.15508	2.340000	0.43974	0.487000	0.27698	0.655000	0.94253	AGA	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403349.1		+	ENST00000308742.4	Missense_Mutation	SNP	12 : 38714900 - 38714900 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	727	159
DEFA6	1671	broad.mit.edu	37	8	6783502	6783502	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6783502G>T	ENST00000297436.2	-	1	96	c.56C>A	c.(55-57)gCt>gAt	p.A19D		NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	defensin, alpha 6, Paneth cell-specific	19					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GAGTGGCTCAGCCTTGGCCTG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	45	49			NA	NA	8		NA											NA				6783502		2203	4300	6503	SO:0001583	missense			M98331	CCDS5960.1	8p23.1	2007-02-20			ENSG00000164822	ENSG00000164822	1671	1671		Defensins, alpha	2765	protein-coding gene	gene with protein product		600471			NA	8417977	Standard	NM_001926	NM_001926	NA	Approved	HD-6, DEF6	uc003wqt.3	Q01524	OTTHUMG00000149984	ENST00000297436.2:c.56C>A	8.37:g.6783502G>T	ENSP00000297436:p.Ala19Asp	NA		37	CCDS5960.1	.	.	.	.	.	.	.	.	.	.	.	8.184	0.794401	0.16327	.	.	ENSG00000164822	ENST00000297436	T	0.69926	-0.44	1.75	0.848	0.18966	Defensin propeptide (1);	0.209200	0.24020	N	0.042300	T	0.76933	0.4057	M	0.83012	2.62	0.09310	N	1	D	0.76494	0.999	D	0.72982	0.979	T	0.64681	-0.6350	10	0.87932	D	0	.	4.0486	0.09785	0.2223:0.0:0.7777:0.0	.	19	Q01524	DEF6_HUMAN	D	19	ENSP00000297436:A19D	ENSP00000297436:A19D	A	-	2	0	DEFA6	6770912	0.056000	0.20664	0.010000	0.14722	0.095000	0.18619	1.088000	0.30877	0.313000	0.23062	0.561000	0.74099	GCT	DEFA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206739.1		-	ENST00000297436.2	Missense_Mutation	SNP	8 : 6783502 - 6783502 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	106	21
IMMT	10989	broad.mit.edu	37	2	86371725	86371725	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86371725A>G	ENST00000410111.3	-	15	2330	c.1943T>C	c.(1942-1944)aTt>aCt	p.I648T	IMMT_ENST00000442664.2_Missense_Mutation_p.I647T|IMMT_ENST00000449247.2_Missense_Mutation_p.I637T|IMMT_ENST00000409051.2_Missense_Mutation_p.I601T|IMMT_ENST00000254636.5_Missense_Mutation_p.I549T	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	648						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGTTTCATCAATCATTGCTAC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	121	122			NA	NA	2		NA											NA				86371725		1887	4114	6001	SO:0001583	missense			D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305	10989	10989			6047	protein-coding gene	gene with protein product	mitofilin, mitochondrial inner membrane organizing system 2	600378	inner membrane protein, mitochondrial (mitofilin)		NA	9168817, 8039717	Standard	NM_006839	NM_001100169	NA	Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.1943T>C	2.37:g.86371725A>G	ENSP00000387262:p.Ile648Thr	NA	B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	37	CCDS46355.1	.	.	.	.	.	.	.	.	.	.	A	15.64	2.894088	0.52121	.	.	ENSG00000132305	ENST00000254636;ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000398211;ENST00000409715	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	5.39	4.24	0.50183	.	0.094982	0.64402	N	0.000001	T	0.58779	0.2146	M	0.77103	2.36	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.81914	0.994;0.995;0.991;0.982;0.995	T	0.62685	-0.6802	10	0.87932	D	0	-7.5923	11.2772	0.49174	0.9289:0.0:0.0711:0.0	.	601;636;637;616;648	B9A067;B4DKR1;Q16891-2;Q16891-3;Q16891	.;.;.;.;IMMT_HUMAN	T	549;637;648;647;601;637;616;262;549	ENSP00000254636:I549T;ENSP00000396899:I637T;ENSP00000387262:I648T;ENSP00000407788:I647T;ENSP00000387227:I601T	ENSP00000254636:I549T	I	-	2	0	IMMT	86225236	1.000000	0.71417	0.999000	0.59377	0.351000	0.29236	9.139000	0.94554	1.075000	0.40932	0.529000	0.55759	ATT	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329909.2		-	ENST00000410111.3	Missense_Mutation	SNP	2 : 86371725 - 86371725 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	722	100
LSM14A	26065	broad.mit.edu	37	19	34663663	34663663	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34663663C>T	ENST00000540746.2	+	1	234	c.116C>T	c.(115-117)gCc>gTc	p.A39V	LSM14A_ENST00000544216.3_Missense_Mutation_p.A39V|LSM14A_ENST00000433627.5_Missense_Mutation_p.A39V			Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	39					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					GTAGCCCTTGCCAAAGGTACG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	50	51			NA	NA	19		NA											NA				34663663		2202	4300	6502	SO:0001583	missense			AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103	26065	26065			24489	protein-coding gene	gene with protein product		610677	chromosome 19 open reading frame 13, family with sequence similarity 61, member A, LSM14 homolog A (SCD6, S. cerevisiae)	C19orf13, FAM61A	NA	12477932	Standard	NM_015578	NM_015578	NA	Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000540746.2:c.116C>T	19.37:g.34663663C>T	ENSP00000446451:p.Ala39Val	NA	Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	37		.	.	.	.	.	.	.	.	.	.	C	32	5.181813	0.94885	.	.	ENSG00000257103	ENST00000544216;ENST00000433627;ENST00000540746	T;T;T	0.35236	1.32;1.33;1.4	4.75	4.75	0.60458	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.107342	0.64402	D	0.000006	T	0.61502	0.2352	M	0.84846	2.72	0.80722	D	1	D;B;P	0.57571	0.98;0.089;0.889	P;B;P	0.60541	0.876;0.187;0.731	T	0.66602	-0.5882	10	0.42905	T	0.14	-5.5106	17.3421	0.87299	0.0:1.0:0.0:0.0	.	39;39;39	B4DTG6;Q8ND56;Q8ND56-2	.;LS14A_HUMAN;.	V	39	ENSP00000446271:A39V;ENSP00000413964:A39V;ENSP00000446451:A39V	ENSP00000314768:A39V	A	+	2	0	LSM14A	39355503	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.225000	0.78051	2.171000	0.68590	0.484000	0.47621	GCC	LSM14A-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000451575.2		+	ENST00000540746.2	Missense_Mutation	SNP	19 : 34663663 - 34663663 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	140	21
TAF6L	10629	broad.mit.edu	37	11	62545792	62545792	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62545792G>A	ENST00000294168.3	+	5	622	c.421G>A	c.(421-423)Gca>Aca	p.A141T	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	141					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						AGGGAACCTGGCACCTCAAGG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	119	127			NA	NA	11		NA											NA				62545792		2201	4299	6500	SO:0001583	missense			BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227	10629	10629			17305	protein-coding gene	gene with protein product		602946	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD		NA	9674425	Standard	NM_006473	NM_006473	NA	Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.421G>A	11.37:g.62545792G>A	ENSP00000294168:p.Ala141Thr	NA	B2RAT0|Q96HA6	37	CCDS8035.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362314	0.61403	.	.	ENSG00000162227	ENST00000294168;ENST00000529509	T;T	0.44083	0.93;0.97	4.94	4.94	0.65067	.	0.063502	0.64402	D	0.000013	T	0.23094	0.0558	N	0.08118	0	0.80722	D	1	B;B	0.23937	0.016;0.094	B;B	0.15870	0.01;0.014	T	0.08289	-1.0729	10	0.15499	T	0.54	-1.7793	15.6975	0.77512	0.0:0.0:1.0:0.0	.	141;141	B4DVM4;Q9Y6J9	.;TAF6L_HUMAN	T	141	ENSP00000294168:A141T;ENSP00000434662:A141T	ENSP00000294168:A141T	A	+	1	0	TAF6L	62302368	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.559000	0.90708	2.570000	0.86706	0.462000	0.41574	GCA	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395352.1		+	ENST00000294168.3	Missense_Mutation	SNP	11 : 62545792 - 62545792 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	275	37
CLN3	1201	broad.mit.edu	37	16	28493652	28493652	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28493652G>A	ENST00000569430.1	-	14	1777	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C	CLN3_ENST00000354630.5_Missense_Mutation_p.R303C|CLN3_ENST00000359984.7_Missense_Mutation_p.R320C|CLN3_ENST00000357857.9_Missense_Mutation_p.R266C|CLN3_ENST00000360019.2_Missense_Mutation_p.R320C|CLN3_ENST00000567963.1_Intron|CLN3_ENST00000357076.5_Missense_Mutation_p.R210C|CLN3_ENST00000357806.7_Missense_Mutation_p.R221C|CLN3_ENST00000568224.1_Missense_Mutation_p.R242C|CLN3_ENST00000535392.1_Missense_Mutation_p.R242C|CLN3_ENST00000395653.4_Missense_Mutation_p.R220C|CLN3_ENST00000355477.5_Missense_Mutation_p.R272C|CLN3_ENST00000565316.1_Missense_Mutation_p.R303C|CLN3_ENST00000333496.9_Missense_Mutation_p.R296C			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	320					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						TCTTACCAGCGGTATTGCTGA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	33	37			NA	NA	16		NA											NA				28493652		2197	4300	6497	SO:0001583	missense			U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603	1201	1201			2074	protein-coding gene	gene with protein product	juvenile neuronal ceroid lipofuscinosis	607042	Batten, Spielmeyer-Vogt disease	BTS	NA	18317235	Standard		NM_001042432	NA	Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.958C>T	16.37:g.28493652G>A	ENSP00000454229:p.Arg320Cys	NA	O00668|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	37	CCDS10632.1	.	.	.	.	.	.	.	.	.	.	g	19.98	3.926431	0.73327	.	.	ENSG00000188603	ENST00000535392;ENST00000359984;ENST00000360019;ENST00000354630;ENST00000355477;ENST00000357857;ENST00000395653;ENST00000357806;ENST00000357076	T;T;T;T;T;T;T;T;D	0.94138	0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;-3.36	5.41	5.41	0.78517	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.97139	0.9065	M	0.88640	2.97	0.49130	D	0.99975	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	D;D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;0.997;1.0;0.998;1.0	D	0.97495	1.0056	10	0.59425	D	0.04	.	16.6881	0.85315	0.0:0.0:1.0:0.0	.	296;303;218;220;266;272;320;221	B4DXL3;Q13286-3;O95086;B4DMY6;B4DFF3;Q13286-2;Q13286;O95089	.;.;.;.;.;.;CLN3_HUMAN;.	C	242;320;320;303;272;266;220;221;210	ENSP00000443221:R242C;ENSP00000353073:R320C;ENSP00000353116:R320C;ENSP00000346650:R303C;ENSP00000347660:R272C;ENSP00000350523:R266C;ENSP00000379014:R220C;ENSP00000350457:R221C;ENSP00000349586:R210C	ENSP00000346650:R303C	R	-	1	0	CLN3	28401153	1.000000	0.71417	1.000000	0.80357	0.231000	0.25187	7.748000	0.85085	2.547000	0.85894	0.486000	0.48141	CGC	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214115.2		-	ENST00000569430.1	Missense_Mutation	SNP	16 : 28493652 - 28493652 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	164	33
CFB	629	broad.mit.edu	37	6	31905129	31905129	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31905129C>T	ENST00000456570.1	+	5	618	c.563C>T	c.(562-564)gCg>gTg	p.A188V	C2_ENST00000452323.2_Missense_Mutation_p.A127V|CFB_ENST00000477310.1_Missense_Mutation_p.A159V|C2_ENST00000442278.2_Missense_Mutation_p.A209V|CFB_ENST00000556679.1_Missense_Mutation_p.A188V|C2_ENST00000469372.1_Missense_Mutation_p.A95V|C2_ENST00000299367.5_Missense_Mutation_p.A341V			P00751	CFAB_HUMAN	complement factor B	357	Sushi 3.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AACACCTATGCGGCCTTAAAC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	174	176			NA	NA	6		NA											NA				31905129		1511	2709	4220	SO:0001583	missense			L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	629	629	3.4.21.47	Complement system	1037	protein-coding gene	gene with protein product		138470	B-factor, properdin	BFD, BF	NA		Standard	NM_001710	NM_001710	NA	Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000456570.1:c.563C>T	6.37:g.31905129C>T	ENSP00000410815:p.Ala188Val	NA	B0QZQ6|O15006|Q29944|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.06|11.06	1.527494|1.527494	0.27299|0.27299	.|.	.|.	ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255;ENSG00000244255|ENSG00000166278	ENST00000469372;ENST00000497706;ENST00000432397;ENST00000452323;ENST00000299367;ENST00000375493;ENST00000442278;ENST00000556679;ENST00000456570;ENST00000477310|ENST00000383177	D;D;D;D;D;D;D;D|.	0.84370|.	-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84|.	4.97|4.97	-0.3|-0.3	0.12804|0.12804	von Willebrand factor, type A (3);|.	1.092690|.	0.07188|.	N|.	0.855182|.	T|T	0.18173|0.18173	0.0436|0.0436	L|L	0.46819|0.46819	1.47|1.47	0.09310|0.09310	N|N	1|1	P;B;B;B;B;B;B;B|.	0.35363|.	0.497;0.21;0.103;0.028;0.094;0.094;0.031;0.103|.	B;B;B;B;B;B;B;B|.	0.28139|.	0.036;0.008;0.012;0.007;0.012;0.012;0.086;0.005|.	T|T	0.28586|0.28586	-1.0039|-1.0039	10|5	0.46703|.	T|.	0.11|.	-4.707|-4.707	6.1284|6.1284	0.20192|0.20192	0.376:0.4561:0.168:0.0|0.376:0.4561:0.168:0.0	.|.	188;312;127;95;209;209;341;128|.	B4E1Z4;B4DV48;B4DPF3;B4DQI1;E9PFN7;B4DV20;P06681;E9PDZ0|.	.;.;.;.;.;.;CO2_HUMAN;.|.	V|W	95;128;128;127;341;26;209;188;188;159|115	ENSP00000418923:A95V;ENSP00000417482:A128V;ENSP00000392322:A127V;ENSP00000299367:A341V;ENSP00000395683:A209V;ENSP00000451848:A188V;ENSP00000410815:A188V;ENSP00000418996:A159V|.	ENSP00000299367:A341V|.	A|R	+|+	2|1	0|2	CFB;C2;XXbac-BPG116M5.17|C2	32013108|32013108	0.002000|0.002000	0.14202|0.14202	0.001000|0.001000	0.08648|0.08648	0.055000|0.055000	0.15305|0.15305	0.018000|0.018000	0.13422|0.13422	0.073000|0.073000	0.16731|0.16731	-0.433000|-0.433000	0.05886|0.05886	GCG|CGG	CFB-001	NOVEL	basic|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000356427.1		+	ENST00000456570.1	Missense_Mutation	SNP	6 : 31905129 - 31905129 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	669	97
ASB10	136371	broad.mit.edu	37	7	150878501	150878501	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150878501C>T	ENST00000275838.1	-	3	889	c.629G>A	c.(628-630)cGg>cAg	p.R210Q	ASB10_ENST00000377867.3_Missense_Mutation_p.R195Q|ASB10_ENST00000434669.1_Missense_Mutation_p.R255Q|ASB10_ENST00000422024.1_Missense_Mutation_p.R255Q|ASB10_ENST00000420175.2_Missense_Mutation_p.R210Q			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	210					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCCTCGGACCGACCATCCAC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	25	25			NA	NA	7		NA											NA				150878501		2201	4291	6492	SO:0001583	missense			AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926	136371	136371		Ankyrin repeat domain containing	17185	protein-coding gene	gene with protein product		615054	ankyrin repeat and SOCS box-containing 10, glaucoma 1, open angle, F (adult-onset)	GLC1F	NA	22156576	Standard	NM_080871	NM_080871	NA	Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000275838.1:c.629G>A	7.37:g.150878501C>T	ENSP00000275838:p.Arg210Gln	NA	A0AVH0|Q6ZUL6	37	CCDS47749.2	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338483	0.41398	.	.	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	5.14	3.33	0.38152	Ankyrin repeat-containing domain (3);	0.350110	0.30602	N	0.009273	T	0.46073	0.1374	N	0.13327	0.33	0.31035	N	0.716972	P;D;D	0.89917	0.865;1.0;1.0	B;D;D	0.72625	0.391;0.974;0.978	T	0.46735	-0.9170	10	0.25751	T	0.34	-12.42	10.0366	0.42133	0.0:0.7716:0.0:0.2284	.	195;210;255	Q8WXI3-3;Q8WXI3;D5MNW9	.;ASB10_HUMAN;.	Q	210;195;255;255;210	ENSP00000275838:R210Q;ENSP00000367098:R195Q;ENSP00000401369:R255Q;ENSP00000398247:R255Q;ENSP00000391137:R210Q	ENSP00000275838:R210Q	R	-	2	0	ASB10	150509434	0.011000	0.17503	0.996000	0.52242	0.680000	0.39746	0.308000	0.19314	0.673000	0.31224	-0.140000	0.14226	CGG	ASB10-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347097.3		-	ENST00000275838.1	Missense_Mutation	SNP	7 : 150878501 - 150878501 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	246	46
TNPO2	30000	broad.mit.edu	37	19	12812936	12812936	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12812936G>A	ENST00000450764.2	-	20	3068	c.2331C>T	c.(2329-2331)taC>taT	p.Y777Y	TNPO2_ENST00000425528.1_Silent_p.Y787Y|TNPO2_ENST00000356861.5_Silent_p.Y777Y|TNPO2_ENST00000592287.1_Silent_p.Y787Y|TNPO2_ENST00000588216.1_Silent_p.Y777Y|TNPO2_ENST00000441499.1_Silent_p.Y777Y			O14787	TNPO2_HUMAN	transportin 2	787					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGGGGCACACGTAGCCCAAGC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	45	42			NA	NA	19		NA											NA				12812936		2158	4236	6394	SO:0001819	synonymous_variant			AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576	30000	30000		Importins	19998	protein-coding gene	gene with protein product	importin 3, karyopherin beta 2b	603002			NA	9298975, 12384575	Standard	NM_013433	NM_013433	NA	Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000450764.2:c.2331C>T	19.37:g.12812936G>A		NA	O14655	37	CCDS45992.1																																																																																			TNPO2-005	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450783.1		-	ENST00000450764.2	Silent	SNP	19 : 12812936 - 12812936 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	258	49
OR5P3	120066	broad.mit.edu	37	11	7846775	7846775	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7846775T>G	ENST00000328375.1	-	1	744	c.745A>C	c.(745-747)Act>Cct	p.T249P	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TAGAACAGAGTGACTGCAGTG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	122	128			NA	NA	11		NA											NA				7846775		2190	4296	6486	SO:0001583	missense			AF158377	CCDS7783.1	11p15.4	2012-08-09			ENSG00000182334	ENSG00000182334	120066	120066		GPCR / Class A : Olfactory receptors	14784	protein-coding gene	gene with protein product					NA		Standard	NM_153445	NM_153445	NA	Approved	JCG1	uc010rbg.2	Q8WZ94	OTTHUMG00000165669	ENST00000328375.1:c.745A>C	11.37:g.7846775T>G	ENSP00000332068:p.Thr249Pro	NA	Q6IFE1|Q8NGM2	37	CCDS7783.1	.	.	.	.	.	.	.	.	.	.	T	17.82	3.483494	0.63962	.	.	ENSG00000182334	ENST00000328375	T	0.39997	1.05	5.12	5.12	0.69794	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000037	T	0.73148	0.3550	H	0.95224	3.64	0.27285	N	0.958003	D	0.76494	0.999	D	0.77004	0.989	T	0.73059	-0.4102	10	0.72032	D	0.01	-24.1436	12.9161	0.58207	0.0:0.0:0.0:1.0	.	249	Q8WZ94	OR5P3_HUMAN	P	249	ENSP00000332068:T249P	ENSP00000332068:T249P	T	-	1	0	OR5P3	7803351	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	0.443000	0.21644	2.147000	0.66899	0.528000	0.53228	ACT	OR5P3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385697.1		-	ENST00000328375.1	Missense_Mutation	SNP	11 : 7846775 - 7846775 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	451	76
MANBA	4126	broad.mit.edu	37	4	103611867	103611867	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:103611867C>A	ENST00000226578.4	-	6	834	c.735G>T	c.(733-735)aaG>aaT	p.K245N	MANBA_ENST00000505239.1_Missense_Mutation_p.K188N	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	245					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		CACCAACTGGCTTTGAGCTGA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													237	205	216			NA	NA	4		NA											NA				103611867		2203	4300	6503	SO:0001583	missense				CCDS3658.1	4q24	2013-09-20			ENSG00000109323	ENSG00000109323	4126	4126	3.2.1.25		6831	protein-coding gene	gene with protein product		609489			NA	7876128	Standard		NM_005908	NA	Approved		uc003hwg.3	O00462	OTTHUMG00000131123	ENST00000226578.4:c.735G>T	4.37:g.103611867C>A	ENSP00000226578:p.Lys245Asn	NA	Q96BC3|Q9NYX9	37	CCDS3658.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.539632	0.27563	.	.	ENSG00000109323	ENST00000226578;ENST00000505239	T;T	0.59224	0.28;0.28	5.02	3.14	0.36123	.	0.329652	0.33327	N	0.005035	T	0.53883	0.1824	M	0.76838	2.35	0.34998	D	0.755714	P;P	0.45902	0.868;0.543	B;B	0.39660	0.306;0.265	T	0.65319	-0.6197	10	0.27785	T	0.31	-20.7191	10.1461	0.42764	0.0:0.8213:0.0:0.1787	.	188;245	E9PFW2;O00462	.;MANBA_HUMAN	N	245;188	ENSP00000226578:K245N;ENSP00000427322:K188N	ENSP00000226578:K245N	K	-	3	2	MANBA	103830915	1.000000	0.71417	0.948000	0.38648	0.828000	0.46876	1.643000	0.37217	1.337000	0.45525	0.650000	0.86243	AAG	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253803.2		-	ENST00000226578.4	Missense_Mutation	SNP	4 : 103611867 - 103611867 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	972	177
SERPINA12	145264	broad.mit.edu	37	14	94962746	94962746	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94962746T>C	ENST00000341228.2	-	4	1664	c.869A>G	c.(868-870)gAc>gGc	p.D290G	SERPINA12_ENST00000556881.1_Missense_Mutation_p.D290G	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	290					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GGAGAAAGTGTCCACCTGCAA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	164	167			NA	NA	14		NA											NA				94962746		2203	4300	6503	SO:0001583	missense			AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953	145264	145264		Serine (or cysteine) peptidase inhibitors	18359	protein-coding gene	gene with protein product			serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12		NA	24172014	Standard	NM_173850	NM_173850	NA	Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.869A>G	14.37:g.94962746T>C	ENSP00000342109:p.Asp290Gly	NA		37	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	T	12.00	1.805753	0.31961	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.84589	-1.87;-1.87	5.46	5.46	0.80206	Serpin domain (3);	0.373627	0.25804	N	0.028183	T	0.81922	0.4925	M	0.62088	1.915	0.24392	N	0.994748	B	0.30068	0.267	B	0.34722	0.188	T	0.73799	-0.3869	10	0.41790	T	0.15	.	5.974	0.19369	0.1464:0.0786:0.0:0.775	.	290	Q8IW75	SPA12_HUMAN	G	290	ENSP00000451738:D290G;ENSP00000342109:D290G	ENSP00000342109:D290G	D	-	2	0	SERPINA12	94032499	0.155000	0.22806	0.026000	0.17262	0.005000	0.04900	3.341000	0.52151	2.074000	0.62210	0.459000	0.35465	GAC	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413097.1		-	ENST00000341228.2	Missense_Mutation	SNP	14 : 94962746 - 94962746 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	620	120
ZFP69	339559	broad.mit.edu	37	1	40961175	40961175	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40961175T>G	ENST00000372706.1	+	6	2031	c.1025T>G	c.(1024-1026)cTt>cGt	p.L342R	RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Missense_Mutation_p.L342R					ZFP69 zinc finger protein	NA											NA						CGCTCATCACTTAATCAGCAT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	90	92			NA	NA	1		NA											NA				40961175		2203	4300	6503	SO:0001583	missense			AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815	339559	339559		Zinc fingers, C2H2-type, -, -, -	24708	protein-coding gene	gene with protein product	ZFP69 zinc finger protein A		zinc finger protein 642	ZNF642	NA		Standard	NM_198494	XM_005270808	NA	Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.1025T>G	1.37:g.40961175T>G	ENSP00000361791:p.Leu342Arg	NA		37	CCDS30686.1	.	.	.	.	.	.	.	.	.	.	T	19.30	3.800702	0.70567	.	.	ENSG00000187815	ENST00000372706;ENST00000372705	T;T	0.53640	0.61;0.61	4.65	4.65	0.58169	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39146	N	0.001443	T	0.70789	0.3264	M	0.86805	2.84	0.48571	D	0.999673	D	0.89917	1.0	D	0.79784	0.993	T	0.76285	-0.3015	10	0.72032	D	0.01	-12.2071	12.6904	0.56972	0.0:0.0:0.0:1.0	.	342	Q49AA0	ZN642_HUMAN	R	342	ENSP00000361791:L342R;ENSP00000361790:L342R	ENSP00000361790:L342R	L	+	2	0	ZNF642	40733762	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.807000	0.86032	2.302000	0.77476	0.533000	0.62120	CTT	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019082.1		+	ENST00000372706.1	Missense_Mutation	SNP	1 : 40961175 - 40961175 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	421	41
TMF1	7110	broad.mit.edu	37	3	69087861	69087861	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69087861C>A	ENST00000398559.2	-	8	2221	c.2005G>T	c.(2005-2007)Gat>Tat	p.D669Y	CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.D672Y|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	669					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TTGTGAAGATCAGTAAGTTCT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	102	104			NA	NA	3		NA											NA				69087861		1859	4104	5963	SO:0001583	missense				CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747	7110	7110			11870	protein-coding gene	gene with protein product		601126			NA	1409643	Standard	NM_007114	NM_007114	NA	Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.2005G>T	3.37:g.69087861C>A	ENSP00000381567:p.Asp669Tyr	NA	B7ZLJ2|Q17R87|Q59GK0	37	CCDS43105.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421412	0.83559	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	T;T	0.20738	2.05;2.05	5.72	5.72	0.89469	.	0.047409	0.85682	D	0.000000	T	0.42675	0.1213	L	0.48642	1.525	0.58432	D	0.999999	D;D	0.89917	1.0;0.996	D;P	0.70935	0.971;0.851	T	0.14980	-1.0453	10	0.72032	D	0.01	-21.9043	19.8709	0.96851	0.0:1.0:0.0:0.0	.	672;669	P82094-2;P82094	.;TMF1_HUMAN	Y	669;672;585	ENSP00000381567:D669Y;ENSP00000438706:D672Y	ENSP00000348582:D585Y	D	-	1	0	TMF1	69170551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.808000	0.86044	2.698000	0.92095	0.591000	0.81541	GAT	TMF1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352106.1		-	ENST00000398559.2	Missense_Mutation	SNP	3 : 69087861 - 69087861 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	640	112
UBQLN3	50613	broad.mit.edu	37	11	5530451	5530451	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5530451C>A	ENST00000311659.4	-	2	485	c.338G>T	c.(337-339)aGt>aTt	p.S113I	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	113										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGATCCAGGACTTGGGCCCTG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(72;684 1260 12332 41642 52180)							NA				0													70	65	67			NA	NA	11		NA											NA				5530451		2201	4297	6498	SO:0001583	missense			AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520	50613	50613		Ubiquilin family	12510	protein-coding gene	gene with protein product		605473			NA	10831842	Standard	NM_017481	NM_017481	NA	Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.338G>T	11.37:g.5530451C>A	ENSP00000347997:p.Ser113Ile	NA	Q9NRE0	37	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630625	0.46944	.	.	ENSG00000175520	ENST00000311659;ENST00000445998	T;T	0.54675	1.09;0.56	5.45	3.45	0.39498	.	0.408439	0.20954	N	0.082692	T	0.50956	0.1646	M	0.73962	2.25	0.09310	N	1	B	0.21753	0.06	B	0.26864	0.074	T	0.52041	-0.8628	10	0.62326	D	0.03	.	7.4533	0.27250	0.0:0.7333:0.1697:0.097	.	113	Q9H347	UBQL3_HUMAN	I	113	ENSP00000347997:S113I;ENSP00000412561:S113I	ENSP00000347997:S113I	S	-	2	0	UBQLN3	5487027	0.074000	0.21230	0.798000	0.32154	0.956000	0.61745	0.516000	0.22817	1.393000	0.46605	0.585000	0.79938	AGT	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000143348.1		-	ENST00000311659.4	Missense_Mutation	SNP	11 : 5530451 - 5530451 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	237	38
ZIC4	84107	broad.mit.edu	37	3	147113984	147113984	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147113984C>T	ENST00000491672.1	-	3	513				ZIC4_ENST00000525172.2_Missense_Mutation_p.A165T|ZIC4_ENST00000473123.1_Missense_Mutation_p.A115T|ZIC4_ENST00000425731.3_Missense_Mutation_p.A153T|ZIC4_ENST00000383075.3_Missense_Mutation_p.A115T|ZIC4_ENST00000484399.1_Missense_Mutation_p.A115T	NM_001243256.1	NP_001230185.1	Q8N9L1	ZIC4_HUMAN	Zic family member 4	NA						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CGGAAGAAAGCGCCAGGACCG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	36	34			NA	NA	3		NA											NA				147113984		2199	4298	6497	SO:0001627	intron_variant			AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963	84107	84107		Zinc fingers, C2H2-type	20393	protein-coding gene	gene with protein product		608948	zinc finger protein of the cerebellum 4		NA		Standard		NM_001168378	NA	Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000491672.1:c.71-4951G>A	3.37:g.147113984C>T		NA	A0AVA2|B2RMQ8|Q4G157|Q9BZ94	37	CCDS58857.1	.	.	.	.	.	.	.	.	.	.	C	35	5.511829	0.96402	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	4.98	4.98	0.66077	.	0.000000	0.45867	D	0.000338	T	0.72203	0.3431	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.963;0.988	T	0.77744	-0.2473	10	0.87932	D	0	.	18.2471	0.89989	0.0:1.0:0.0:0.0	.	165;115	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	T	115;153;165;115;115;115	ENSP00000372553:A115T;ENSP00000397695:A153T;ENSP00000435509:A165T;ENSP00000417855:A115T;ENSP00000420775:A115T;ENSP00000420627:A115T	ENSP00000372553:A115T	A	-	1	0	ZIC4	148596674	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.299000	0.77371	0.561000	0.74099	GCT	ZIC4-009	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355512.1		-	ENST00000491672.1	Intron	SNP	3 : 147113984 - 147113984 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	245	67
CEP97	79598	broad.mit.edu	37	3	101481366	101481366	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101481366T>A	ENST00000494050.1	+	10	1700	c.1678T>A	c.(1678-1680)Ttt>Att	p.F560I	CEP97_ENST00000327230.4_Missense_Mutation_p.F619I|CEP97_ENST00000341893.3_Missense_Mutation_p.F619I	NM_024548.2	NP_078824.2	Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	619	CEP110 binding.|IQ.					centrosome|nucleus	protein binding	p.F619I(1)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TATTAAAAAATTTGTACAAGA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											75	79	77			NA	NA	3		NA											NA				101481366		2203	4297	6500	SO:0001583	missense			AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504	79598	79598			26244	protein-coding gene	gene with protein product		615864	leucine-rich repeats and IQ motif containing 2	LRRIQ2	NA	17719545, 18068367	Standard	NM_024548	NM_024548	NA	Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000494050.1:c.1678T>A	3.37:g.101481366T>A	ENSP00000418185:p.Phe560Ile	NA	B5MDY8|Q8NA71|Q9H5T9	37		.	.	.	.	.	.	.	.	.	.	T	15.78	2.935430	0.52866	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.49720	0.86;0.81;0.77	5.56	-2.14	0.07123	.	0.301981	0.37136	N	0.002226	T	0.31857	0.0810	L	0.57536	1.79	0.28846	N	0.896345	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.09596	-1.0667	10	0.34782	T	0.22	-0.8876	0.957	0.01387	0.367:0.1601:0.3182:0.1548	.	560;619	E9PG22;Q8IW35	.;CEP97_HUMAN	I	619;619;560	ENSP00000342510:F619I;ENSP00000325881:F619I;ENSP00000418185:F560I	ENSP00000325881:F619I	F	+	1	0	CEP97	102964056	0.983000	0.35010	0.643000	0.29450	0.989000	0.77384	0.369000	0.20416	-0.252000	0.09528	0.477000	0.44152	TTT	CEP97-003	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000353632.1		+	ENST00000494050.1	Missense_Mutation	SNP	3 : 101481366 - 101481366 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	431	96
HECTD1	25831	broad.mit.edu	37	14	31597095	31597095	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31597095G>A	ENST00000399332.1	-	26	5365	c.4877C>T	c.(4876-4878)aCa>aTa	p.T1626I	HECTD1_ENST00000553700.1_Missense_Mutation_p.T1626I	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1626	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TGATAAAACTGTTGTTGCTGT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	142	145			NA	NA	14		NA											NA				31597095		1960	4157	6117	SO:0001583	missense			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148	25831	25831		Ankyrin repeat domain containing	20157	protein-coding gene	gene with protein product			HECT domain containing 1		NA	10574461	Standard		XM_005267502	NA	Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.4877C>T	14.37:g.31597095G>A	ENSP00000382269:p.Thr1626Ile	NA	Q6P445|Q86VJ1|Q96F34|Q9UFZ7	37	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965877	0.53507	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	T;T;T	0.08282	3.11;3.11;3.11	6.04	6.04	0.98038	.	0.000000	0.85682	U	0.000000	T	0.18593	0.0446	N	0.24115	0.695	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.72982	0.979;0.979	T	0.04976	-1.0914	10	0.26408	T	0.33	-11.9377	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1626;1626	D3DS86;Q9ULT8	.;HECD1_HUMAN	I	1626;1628;1626;1053	ENSP00000450697:T1626I;ENSP00000382269:T1626I;ENSP00000451860:T1053I	ENSP00000261312:T1628I	T	-	2	0	HECTD1	30666846	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.845000	0.99498	2.873000	0.98535	0.561000	0.74099	ACA	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409942.1		-	ENST00000399332.1	Missense_Mutation	SNP	14 : 31597095 - 31597095 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	350	79
ROCK1	6093	broad.mit.edu	37	18	18588085	18588085	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:18588085C>A	ENST00000399799.2	-	14	2421	c.1481G>T	c.(1480-1482)aGa>aTa	p.R494I		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	NA	Interaction with FHOD1.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CTCATTAATTCTATGCTGTAG	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	120	127			NA	NA	18		NA											NA				18588085		2201	4296	6497	SO:0001583	missense				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	6093	6093	2.7.11.1	Pleckstrin homology (PH) domain containing	10251	protein-coding gene	gene with protein product		601702			NA	8617235	Standard	NM_005406	NM_005406	NA	Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.1481G>T	18.37:g.18588085C>A	ENSP00000382697:p.Arg494Ile	NA	B0YJ91|Q2KHM4|Q59GZ4	37	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450332	0.84101	.	.	ENSG00000067900	ENST00000399799	D	0.82619	-1.63	5.46	3.69	0.42338	.	0.055889	0.64402	D	0.000001	T	0.79551	0.4465	L	0.47716	1.5	0.58432	D	0.999997	B	0.28178	0.202	B	0.36335	0.222	T	0.76740	-0.2848	10	0.62326	D	0.03	.	10.0434	0.42173	0.0:0.7669:0.0:0.2331	.	494	Q13464	ROCK1_HUMAN	I	494	ENSP00000382697:R494I	ENSP00000382697:R494I	R	-	2	0	ROCK1	16842083	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.180000	0.58296	0.872000	0.35775	0.591000	0.81541	AGA	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254641.2		-	ENST00000399799.2	Missense_Mutation	SNP	18 : 18588085 - 18588085 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	192	35
ZNF687	57592	broad.mit.edu	37	1	151259046	151259046	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151259046G>T	ENST00000368879.2	+	2	377	c.279G>T	c.(277-279)gaG>gaT	p.E93D		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGTGTCCCGAGCAGTCTGAGG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	57	56			NA	NA	1		NA											NA				151259046		2203	4300	6503	SO:0001583	missense				CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373	57592	57592			29277	protein-coding gene	gene with protein product		610568			NA	10718198	Standard	NM_020832	NM_020832	NA	Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.279G>T	1.37:g.151259046G>T	ENSP00000357874:p.Glu93Asp	NA	D3DV17|Q68DQ8|Q9H937|Q9P2A7	37		.	.	.	.	.	.	.	.	.	.	G	12.01	1.810743	0.32053	.	.	ENSG00000143373	ENST00000443959;ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.01119	5.31;5.31;5.63	4.32	1.17	0.20885	.	0.000000	0.35585	N	0.003114	T	0.00754	0.0025	L	0.39898	1.24	0.30252	N	0.794028	D;D;D	0.61697	0.99;0.984;0.99	D;D;D	0.73380	0.98;0.956;0.98	T	0.42085	-0.9472	10	0.07644	T	0.81	.	4.2579	0.10726	0.3087:0.0:0.5254:0.1658	.	93;93;93	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	D	102;93;93;93	ENSP00000336620:E93D;ENSP00000319829:E93D;ENSP00000357874:E93D	ENSP00000319829:E93D	E	+	3	2	ZNF687	149525670	1.000000	0.71417	0.999000	0.59377	0.688000	0.40055	2.986000	0.49370	0.476000	0.27440	0.313000	0.20887	GAG	ZNF687-201	KNOWN	basic	protein_coding	NA	protein_coding			+	ENST00000368879.2	Missense_Mutation	SNP	1 : 151259046 - 151259046 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	459	70
LUZP1	7798	broad.mit.edu	37	1	23419834	23419834	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23419834C>T	ENST00000302291.4	-	4	1722	c.921G>A	c.(919-921)tcG>tcA	p.S307S	LUZP1_ENST00000374623.3_Silent_p.S307S|LUZP1_ENST00000418342.1_Silent_p.S307S|LUZP1_ENST00000314174.5_Silent_p.S307S			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	307						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTTCTTCCAACGATTCAAAGT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	170	173			NA	NA	1		NA											NA				23419834		2203	4300	6503	SO:0001819	synonymous_variant			BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641	7798	7798			14985	protein-coding gene	gene with protein product		601422			NA	8812416	Standard	NM_033631	NM_033631	NA	Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.921G>A	1.37:g.23419834C>T		NA	Q5TH93|Q8N4X3|Q8TEH1	37	CCDS30628.1																																																																																			LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000008900.3		-	ENST00000302291.4	Silent	SNP	1 : 23419834 - 23419834 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	591	63
PRKCE	5581	broad.mit.edu	37	2	46234679	46234679	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46234679C>T	ENST00000394874.1	+	4	420	c.311C>T	c.(310-312)tCt>tTt	p.S104F	PRKCE_ENST00000306156.3_Missense_Mutation_p.S381F			Q02156	KPCE_HUMAN	protein kinase C, epsilon	381					activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			GCAGCATCGTCTCCTGATGGC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	57	56			NA	NA	2		NA											NA				46234679		1833	3846	5679	SO:0001583	missense				CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	5581	5581	2.7.11.1		9401	protein-coding gene	gene with protein product		176975			NA	1382605, 7877991	Standard		NM_005400	NA	Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000394874.1:c.311C>T	2.37:g.46234679C>T	ENSP00000378341:p.Ser104Phe	NA	B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	37		.	.	.	.	.	.	.	.	.	.	C	8.664	0.901205	0.17760	.	.	ENSG00000171132	ENST00000306156;ENST00000394874	T;T	0.69926	-0.44;0.28	5.53	3.7	0.42460	.	0.437979	0.26518	N	0.023936	T	0.46073	0.1374	N	0.08118	0	0.24205	N	0.995496	B	0.32010	0.351	B	0.25506	0.061	T	0.38929	-0.9638	10	0.51188	T	0.08	.	16.0086	0.80380	0.0:0.7317:0.2683:0.0	.	381	Q02156	KPCE_HUMAN	F	381;104	ENSP00000306124:S381F;ENSP00000378341:S104F	ENSP00000306124:S381F	S	+	2	0	PRKCE	46088183	0.977000	0.34250	0.006000	0.13384	0.007000	0.05969	3.915000	0.56409	0.838000	0.34948	0.655000	0.94253	TCT	PRKCE-008	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000258149.1		+	ENST00000394874.1	Missense_Mutation	SNP	2 : 46234679 - 46234679 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	455	116
USP24	23358	broad.mit.edu	37	1	55563334	55563334	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55563334G>A	ENST00000294383.6	-	48	5651	c.5652C>T	c.(5650-5652)caC>caT	p.H1884H	USP24_ENST00000407756.1_Silent_p.H1724H	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1884					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						ATCTCATTAGGTGAATTACCA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	36	37			NA	NA	1		NA											NA				55563334		1802	4065	5867	SO:0001819	synonymous_variant			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402	23358	23358		Ubiquitin-specific peptidases	12623	protein-coding gene	gene with protein product		610569	ubiquitin specific protease 24		NA	12838346	Standard		NM_015306	NA	Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.5652C>T	1.37:g.55563334G>A		NA	Q6ZSY2|Q8N2Y4|Q9NXD1	37	CCDS44154.2																																																																																			USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022275.2		-	ENST00000294383.6	Silent	SNP	1 : 55563334 - 55563334 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	41	5
OTX1	5013	broad.mit.edu	37	2	63281286	63281286	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:63281286C>T	ENST00000282549.2	+	4	478	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	OTX1_ENST00000366671.3_Missense_Mutation_p.R68W	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	68						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CATCTTCATGCGGGAGGAGGT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	81	82			NA	NA	2		NA											NA				63281286		2203	4300	6503	SO:0001583	missense				CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507	5013	5013		Homeoboxes / PRD class	8521	protein-coding gene	gene with protein product		600036	orthodenticle (Drosophila) homolog 1, orthodenticle homolog 1 (Drosophila)		NA	7959790	Standard		NM_001199770	NA	Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.202C>T	2.37:g.63281286C>T	ENSP00000282549:p.Arg68Trp	NA	Q53TG6	37	CCDS1873.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791066	0.70452	.	.	ENSG00000115507	ENST00000366671;ENST00000282549	D;D	0.97505	-4.41;-4.41	5.09	4.18	0.49190	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99199	0.9722	H	0.99758	4.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98005	1.0362	10	0.87932	D	0	.	14.0454	0.64702	0.151:0.849:0.0:0.0	.	68	P32242	OTX1_HUMAN	W	68	ENSP00000355631:R68W;ENSP00000282549:R68W	ENSP00000282549:R68W	R	+	1	2	OTX1	63134790	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.230000	0.42999	2.638000	0.89438	0.655000	0.94253	CGG	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251617.1		+	ENST00000282549.2	Missense_Mutation	SNP	2 : 63281286 - 63281286 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	699	128
EIF2AK3	9451	broad.mit.edu	37	2	88874864	88874864	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88874864C>A	ENST00000303236.3	-	13	2438	c.2137G>T	c.(2137-2139)Gct>Tct	p.A713S	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.A562S|EIF2AK3_ENST00000470706.1_Intron|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	713	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						GGTGAAGGAGCTATGATTTCA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(138;671 1851 16235 39058 45249)							NA				0													160	164	163			NA	NA	2		NA											NA				88874864		2203	4300	6503	SO:0001583	missense			AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071	9451	9451			3255	protein-coding gene	gene with protein product		604032			NA	10026192, 10575235	Standard	NM_004836	NM_004836	NA	Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.2137G>T	2.37:g.88874864C>A	ENSP00000307235:p.Ala713Ser	NA	A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	37	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685924	0.47991	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.73469	-0.63;-0.57;-0.75	6.06	6.06	0.98353	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.159141	0.56097	D	0.000022	T	0.59376	0.2189	L	0.28740	0.885	0.47737	D	0.999505	B	0.18741	0.03	B	0.15484	0.013	T	0.53387	-0.8446	10	0.10902	T	0.67	-23.204	10.8679	0.46866	0.0:0.8611:0.0:0.1389	.	713	Q9NZJ5	E2AK3_HUMAN	S	562;713;562;592	ENSP00000408325:A562S;ENSP00000307235:A713S;ENSP00000412076:A592S	ENSP00000307235:A713S	A	-	1	0	EIF2AK3	88655979	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.988000	0.29616	2.882000	0.98803	0.655000	0.94253	GCT	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000338233.2		-	ENST00000303236.3	Missense_Mutation	SNP	2 : 88874864 - 88874864 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	772	263
KIAA0226L	80183	broad.mit.edu	37	13	46946460	46946460	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46946460C>T	ENST00000409879.2	-	4	1125				KIAA0226L_ENST00000429979.1_Missense_Mutation_p.A51T|KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000480935.1_Intron|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.A51T|KIAA0226L_ENST00000378784.4_Intron|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.A51T|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.A51T|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.A51T|KIAA0226L_ENST00000534925.1_Intron			Q9H714	CM018_HUMAN	KIAA0226-like	NA										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						ATCCAGACAGCTTTGTGCCTC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	78	82			NA	NA	13		NA											NA				46946460		2203	4300	6503	SO:0001627	intron_variant			AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445	80183	80183			20420	protein-coding gene	gene with protein product			chromosome 13 open reading frame 18	C13orf18	NA		Standard	NM_025113	NM_001286766	NA	Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000409879.2:c.65-3510G>A	13.37:g.46946460C>T		NA	A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	37		.	.	.	.	.	.	.	.	.	.	C	17.21	3.330409	0.60743	.	.	ENSG00000102445	ENST00000378781;ENST00000429979;ENST00000378797;ENST00000389908;ENST00000378787;ENST00000439642	T;T;T;T;T;T	0.68025	-0.14;0.26;0.15;0.26;0.15;-0.3	5.57	4.72	0.59763	.	0.000000	0.56097	D	0.000029	T	0.76615	0.4012	L	0.54323	1.7	0.28880	N	0.894451	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.976;0.989	T	0.72839	-0.4171	10	0.87932	D	0	-2.8447	11.757	0.51880	0.1762:0.8238:0.0:0.0	.	51;51;51	Q9H714-1;Q9H714;Q9H714-4	.;K226L_HUMAN;.	T	51	ENSP00000368057:A51T;ENSP00000396935:A51T;ENSP00000368074:A51T;ENSP00000374558:A51T;ENSP00000368064:A51T;ENSP00000414579:A51T	ENSP00000368057:A51T	A	-	1	0	KIAA0226L	45844461	0.943000	0.32029	0.388000	0.26195	0.220000	0.24768	3.399000	0.52586	1.338000	0.45544	0.655000	0.94253	GCT	KIAA0226L-012	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000335435.2		-	ENST00000409879.2	Intron	SNP	13 : 46946460 - 46946460 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	180	37
EXPH5	23086	broad.mit.edu	37	11	108383192	108383192	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108383192T>C	ENST00000265843.4	-	6	3152	c.3042A>G	c.(3040-3042)gaA>gaG	p.E1014E	EXPH5_ENST00000428840.1_Silent_p.E938E|EXPH5_ENST00000525344.1_Silent_p.E1007E|EXPH5_ENST00000443411.1_Silent_p.E826E	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	1014					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTGTGTCAAGTTCAGAAACTT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	83	85			NA	NA	11		NA											NA				108383192		2201	4298	6499	SO:0001819	synonymous_variant				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723	23086	23086			30578	protein-coding gene	gene with protein product	synaptotagmin-like homologue lacking C2 domains b	612878			NA	9734811, 11773082	Standard	NM_015065	NM_015065	NA	Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.3042A>G	11.37:g.108383192T>C		NA		37	CCDS8341.1																																																																																			EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390279.1		-	ENST00000265843.4	Silent	SNP	11 : 108383192 - 108383192 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	385	76
ITGA5	3678	broad.mit.edu	37	12	54797065	54797065	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54797065G>T	ENST00000293379.4	-	18	2081	c.1820C>A	c.(1819-1821)gCt>gAt	p.A607D	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	607					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GAAGTTGAGAGCGATGTGAAT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	181	175			NA	NA	12		NA											NA				54797065		2203	4300	6503	SO:0001583	missense				CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638	3678	3678		CD molecules, Integrins	6141	protein-coding gene	gene with protein product		135620		FNRA	NA	2454952	Standard		NM_002205	NA	Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.1820C>A	12.37:g.54797065G>T	ENSP00000293379:p.Ala607Asp	NA	Q96HA5	37	CCDS8880.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047893	0.55110	.	.	ENSG00000161638	ENST00000293379	T	0.44482	0.92	5.17	4.25	0.50352	Integrin alpha-2 (1);	0.221093	0.44483	N	0.000444	T	0.44095	0.1277	L	0.58101	1.795	0.49915	D	0.999838	P	0.48350	0.909	P	0.48141	0.568	T	0.33369	-0.9871	10	0.40728	T	0.16	.	8.805	0.34932	0.0:0.1646:0.6651:0.1703	.	607	P08648	ITA5_HUMAN	D	607	ENSP00000293379:A607D	ENSP00000293379:A607D	A	-	2	0	ITGA5	53083332	0.982000	0.34865	1.000000	0.80357	0.860000	0.49131	2.325000	0.43840	1.247000	0.43917	0.561000	0.74099	GCT	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406174.1		-	ENST00000293379.4	Missense_Mutation	SNP	12 : 54797065 - 54797065 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	879	202
MKL2	57496	broad.mit.edu	37	16	14234480	14234480	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14234480C>T	ENST00000571589.1	+	3	189	c.17C>T	c.(16-18)gCg>gTg	p.A6V	MKL2_ENST00000574045.1_Missense_Mutation_p.A6V|MKL2_ENST00000318282.5_Missense_Mutation_p.A6V|MKL2_ENST00000575537.1_3'UTR	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	0					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACACAGGGGCGATAGACACC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	99	107			NA	NA	16		NA											NA				14234480		2197	4300	6497	SO:0001583	missense			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260	57496	57496			29819	protein-coding gene	gene with protein product		609463			NA	10574462	Standard	NM_014048	NM_014048	NA	Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000571589.1:c.17C>T	16.37:g.14234480C>T	ENSP00000459626:p.Ala6Val	NA	A6ND53|Q68CT1|Q6UB16|Q86WW2|Q8N226	37		.	.	.	.	.	.	.	.	.	.	C	9.716	1.158251	0.21454	.	.	ENSG00000186260	ENST00000318282	.	.	.	4.93	2.59	0.31030	.	.	.	.	.	T	0.26774	0.0655	N	0.19112	0.55	0.18873	N	0.999986	B;B	0.25719	0.081;0.132	B;B	0.21546	0.016;0.035	T	0.14868	-1.0457	8	0.23302	T	0.38	.	11.1804	0.48625	0.0:0.8158:0.0:0.1842	.	6;6	B4DGT8;Q9ULH7-4	.;.	V	6	.	ENSP00000339086:A6V	A	+	2	0	MKL2	14141981	0.028000	0.19301	0.537000	0.28052	0.191000	0.23601	0.397000	0.20883	1.083000	0.41159	-0.140000	0.14226	GCG	MKL2-001	NOVEL	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000436621.1		+	ENST00000571589.1	Missense_Mutation	SNP	16 : 14234480 - 14234480 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	325	21
TLN1	7094	broad.mit.edu	37	9	35714813	35714813	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35714813C>G	ENST00000314888.9	-	22	3168	c.2815G>C	c.(2815-2817)Gcc>Ccc	p.A939P	TLN1_ENST00000540444.1_Missense_Mutation_p.A939P	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	939					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGGGTAGAGGCTGCGTGCTGA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	53	50			NA	NA	9		NA											NA				35714813		2202	4300	6502	SO:0001583	missense			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076	7094	7094			11845	protein-coding gene	gene with protein product		186745		TLN	NA	7635475, 10610730	Standard	NM_006289	NM_006289	NA	Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.2815G>C	9.37:g.35714813C>G	ENSP00000316029:p.Ala939Pro	NA	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	37	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717139	0.48622	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.70282	-0.45;-0.47	5.7	2.84	0.33178	.	0.102948	0.64402	D	0.000002	T	0.63581	0.2523	L	0.60455	1.87	0.58432	D	0.999996	P	0.40398	0.716	B	0.40228	0.323	T	0.60378	-0.7275	10	0.62326	D	0.03	-5.7164	6.1779	0.20455	0.3731:0.4927:0.0:0.1343	.	939	Q9Y490	TLN1_HUMAN	P	939	ENSP00000316029:A939P;ENSP00000442981:A939P	ENSP00000316029:A939P	A	-	1	0	TLN1	35704813	0.557000	0.26546	0.994000	0.49952	0.622000	0.37654	1.239000	0.32719	0.329000	0.23460	0.655000	0.94253	GCC	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052353.2		-	ENST00000314888.9	Missense_Mutation	SNP	9 : 35714813 - 35714813 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	457	76
DHX8	1659	broad.mit.edu	37	17	41585306	41585306	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41585306C>T	ENST00000262415.3	+	15	2311	c.2239C>T	c.(2239-2241)Ctg>Ttg	p.L747L	DHX8_ENST00000540306.1_Silent_p.L747L	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	747						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AGTGGAAATACTGTACACAAA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(56;1548 1661 49258 49987)							NA				0													105	97	100			NA	NA	17		NA											NA				41585306		2203	4300	6503	SO:0001819	synonymous_variant			D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596	1659	1659		DEAH-boxes	2749	protein-coding gene	gene with protein product		600396	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)	DDX8	NA	7935475	Standard		NM_004941	NA	Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.2239C>T	17.37:g.41585306C>T		NA		37	CCDS11464.1																																																																																			DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453485.1		+	ENST00000262415.3	Silent	SNP	17 : 41585306 - 41585306 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	628	120
CNOT6L	246175	broad.mit.edu	37	4	78650044	78650044	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78650044C>T	ENST00000504123.1	-	10	1346	c.1216G>A	c.(1216-1218)Gtg>Atg	p.V406M	CNOT6L_ENST00000264903.4_Missense_Mutation_p.V406M			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	406					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						GCACATAGCACCAGCGGGATG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	117	118			NA	NA	4		NA											NA				78650044		1881	4113	5994	SO:0001583	missense			AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767	246175	246175			18042	protein-coding gene	gene with protein product					NA		Standard		NM_144571	NA	Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1216G>A	4.37:g.78650044C>T	ENSP00000424896:p.Val406Met	NA	Q9UF92	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.368717|4.368717	0.82463|0.82463	.|.	.|.	ENSG00000138767|ENSG00000138767	ENST00000515506|ENST00000504123;ENST00000264903;ENST00000512485;ENST00000505983	.|D;D;D;D	.|0.96073	.|-3.9;-3.9;-3.9;-3.9	5.56|5.56	5.56|5.56	0.83823|0.83823	.|Endonuclease/exonuclease/phosphatase (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97642|0.97642	0.9227|0.9227	M|M	0.77406|0.77406	2.37|2.37	0.80722|0.80722	D|D	1|1	.|D;P	.|0.65815	.|0.995;0.884	.|D;P	.|0.69654	.|0.965;0.696	D|D	0.98104|0.98104	1.0416|1.0416	5|10	.|0.87932	.|D	.|0	-3.4006|-3.4006	19.5255|19.5255	0.95203|0.95203	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|379;406	.|Q96LI5-2;Q96LI5	.|.;CNO6L_HUMAN	D|M	434|406;406;413;181	.|ENSP00000424896:V406M;ENSP00000264903:V406M;ENSP00000425571:V413M;ENSP00000426320:V181M	.|ENSP00000264903:V406M	G|V	-|-	2|1	0|0	CNOT6L|CNOT6L	78869068|78869068	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.999000|5.999000	0.70665|0.70665	2.627000|2.627000	0.88993|0.88993	0.563000|0.563000	0.77884|0.77884	GGT|GTG	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000362515.1		-	ENST00000504123.1	Missense_Mutation	SNP	4 : 78650044 - 78650044 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	716	100
TAGLN2	8407	broad.mit.edu	37	1	159890321	159890321	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159890321C>T	ENST00000368096.1	-	2	288	c.42G>A	c.(40-42)ccG>ccA	p.P14P	TAGLN2_ENST00000368097.4_5'UTR|TAGLN2_ENST00000320307.4_5'UTR|TAGLN2_ENST00000478033.1_5'UTR	NM_001277224.1	NP_001264153.1	P37802	TAGL2_HUMAN	transgelin 2	0					muscle organ development	nuclear membrane|plasma membrane	protein binding			endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCGGTGGCTGCGGGGAGCTAG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	20	20			NA	NA	1		NA											NA				159890321		2203	4300	6503	SO:0001819	synonymous_variant			D21261	CCDS1189.1, CCDS60314.1	1q21-q25	2008-07-18			ENSG00000158710	ENSG00000158710	8407	8407			11554	protein-coding gene	gene with protein product	SM22-alpha homolog	604634			NA	9693045	Standard	NM_003564	NM_001277223	NA	Approved	KIAA0120, HA1756	uc031pqu.1	P37802	OTTHUMG00000022793	ENST00000368096.1:c.42G>A	1.37:g.159890321C>T		NA	Q5JRQ6|Q5JRQ7|Q6FGI1|Q9BUH5|Q9H4P0	37																																																																																				TAGLN2-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000059106.1		-	ENST00000368096.1	Silent	SNP	1 : 159890321 - 159890321 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	212	63
DYSF	8291	broad.mit.edu	37	2	71825816	71825816	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71825816G>A	ENST00000258104.3	+	33	3920	c.3643G>A	c.(3643-3645)Gcc>Acc	p.A1215T	DYSF_ENST00000409366.1_Missense_Mutation_p.A1216T|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000394120.2_Missense_Mutation_p.A1216T|DYSF_ENST00000409582.3_Missense_Mutation_p.A1232T|DYSF_ENST00000429174.2_Missense_Mutation_p.A1215T|DYSF_ENST00000410020.3_Missense_Mutation_p.A1233T|DYSF_ENST00000409762.1_Missense_Mutation_p.A1232T|DYSF_ENST00000413539.2_Missense_Mutation_p.A1246T|DYSF_ENST00000410041.1_Missense_Mutation_p.A1233T|DYSF_ENST00000409744.1_Missense_Mutation_p.A1202T|DYSF_ENST00000409651.1_Missense_Mutation_p.A1247T	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1215	C2 4.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGGCGAGCCGGCCACAGTTGC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	77	78			NA	NA	2		NA											NA				71825816		2203	4300	6503	SO:0001583	missense			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636	8291	8291			3097	protein-coding gene	gene with protein product	fer-1-like family member 1	603009	limb girdle muscular dystrophy 2B (autosomal recessive)	LGMD2B	NA	8320700	Standard	NM_003494	NM_003494	NA	Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3643G>A	2.37:g.71825816G>A	ENSP00000258104:p.Ala1215Thr	NA	B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	37	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.573708	0.28092	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	5.66	1.54	0.23209	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.929726	0.09356	N	0.813410	T	0.68274	0.2983	N	0.26130	0.795	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.16802	0.015;0.015;0.002;0.015;0.004;0.004;0.004;0.002;0.015;0.001;0.001;0.009;0.015;0.019	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.25759	0.038;0.038;0.009;0.038;0.038;0.038;0.038;0.038;0.038;0.009;0.009;0.038;0.038;0.063	T	0.54899	-0.8224	10	0.27785	T	0.31	-4.3415	7.2742	0.26275	0.1531:0.2606:0.5864:0.0	.	1247;1233;1216;1202;1233;1202;1232;1201;1246;1232;1215;1201;1216;1215	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	T	1246;1232;1232;1215;1215;1247;1216;1202;1216;1233;1233	ENSP00000407046:A1246T;ENSP00000387137:A1232T;ENSP00000386547:A1232T;ENSP00000398305:A1215T;ENSP00000258104:A1215T;ENSP00000386683:A1247T;ENSP00000377678:A1216T;ENSP00000386285:A1202T;ENSP00000386512:A1216T;ENSP00000386881:A1233T;ENSP00000386617:A1233T	ENSP00000258104:A1215T	A	+	1	0	DYSF	71679324	0.050000	0.20438	0.039000	0.18376	0.359000	0.29487	0.816000	0.27267	0.749000	0.32854	0.655000	0.94253	GCC	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251970.3		+	ENST00000258104.3	Missense_Mutation	SNP	2 : 71825816 - 71825816 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	328	11
GOLGA8I	283796	broad.mit.edu	37	15	23261073	23261073	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23261073G>A	ENST00000450802.3	+	10	846	c.748G>A	c.(748-750)Gcc>Acc	p.A250T		NM_001282468.1|NM_001282472.1|NM_001282484.1|NM_001282490.1|NM_001282493.1|NM_001282494.1	NP_001269397.1|NP_001269401.1|NP_001269413.1|NP_001269419.1|NP_001269422.1|NP_001269423.1			golgin A8 family, member I	NA											NA						AGGAGAGAGGGCCCGGTGGCA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			AK093104		15q11.2	2013-01-17	2012-10-05	2012-10-05	ENSG00000153666	ENSG00000277561	283796	283796			26660	other	unknown	FLJ35785		golgi autoantigen, golgin subfamily a, 9 pseudogene, golgin A9, pseudogene, golgin A8 family, member I, pseudogene	GOLGA9P, GOLGA8IP	NA		Standard	NR_024074	NR_024074	NA	Approved	FLJ35785	uc001yvh.1	A6NC78	OTTHUMG00000129149	ENST00000450802.3:c.748G>A	15.37:g.23261073G>A	ENSP00000399637:p.Ala250Thr	NA		37		.	.	.	.	.	.	.	.	.	.	.	9.900	1.206630	0.22205	.	.	ENSG00000153666	ENST00000450802	T	0.25250	1.81	0.83	0.83	0.18854	.	.	.	.	.	T	0.31734	0.0806	.	.	.	.	.	.	P	0.44260	0.83	P	0.54590	0.756	T	0.36359	-0.9751	7	0.38643	T	0.18	.	5.1257	0.14884	0.0:0.0:1.0:0.0	.	169	Q8NA68	.	T	250	ENSP00000399637:A250T	ENSP00000399637:A250T	A	+	1	0	GOLGA8IP	20812514	0.000000	0.05858	0.008000	0.14137	0.232000	0.25224	0.192000	0.17096	0.775000	0.33450	0.064000	0.15345	GCC	GOLGA8I-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000251213.2		+	ENST00000450802.3	Missense_Mutation	SNP	15 : 23261073 - 23261073 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1088	155
PEAK1	79834	broad.mit.edu	37	15	77473289	77473289	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77473289G>T	ENST00000560626.2	-	4	1455	c.980C>A	c.(979-981)tCt>tAt	p.S327Y	PEAK1_ENST00000558305.1_Missense_Mutation_p.S327Y|PEAK1_ENST00000312493.4_Missense_Mutation_p.S327Y			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	327	Ser-rich.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				NA						TTGTCCATAAGAGACCACAGA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	76	79			NA	NA	15		NA											NA				77473289		1928	4138	6066	SO:0001583	missense				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517	79834	79834			29431	protein-coding gene	gene with protein product		614248			NA	16879967, 20534451	Standard		NM_024776	NA	Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.980C>A	15.37:g.77473289G>T	ENSP00000452796:p.Ser327Tyr	NA	Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	37	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.430700	0.43122	.	.	ENSG00000173517	ENST00000312493	T	0.70399	-0.48	5.3	5.3	0.74995	.	0.642209	0.11570	U	0.550836	T	0.60064	0.2240	N	0.24115	0.695	0.37399	D	0.912764	P	0.49961	0.93	P	0.44732	0.459	T	0.63699	-0.6578	10	0.62326	D	0.03	-6.9958	8.1524	0.31148	0.1368:0.0:0.8632:0.0	.	327	Q9H792	PEAK1_HUMAN	Y	327	ENSP00000309230:S327Y	ENSP00000309230:S327Y	S	-	2	0	AC087465.1	75260344	1.000000	0.71417	0.918000	0.36340	0.989000	0.77384	6.007000	0.70731	2.469000	0.83416	0.557000	0.71058	TCT	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419483.3		-	ENST00000560626.2	Missense_Mutation	SNP	15 : 77473289 - 77473289 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	525	72
ALG13	79868	broad.mit.edu	37	X	110954908	110954908	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:110954908G>A	ENST00000394780.3	+	6	852	c.840G>A	c.(838-840)gtG>gtA	p.V280V	ALG13_ENST00000251943.4_Silent_p.V176V	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	280	OTU.				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						TGAAGTATGTGGAGGGATCTT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													236	186	201			NA	NA	X		NA											NA				110954908		1568	3582	5150	SO:0001819	synonymous_variant			AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	79868	79868	2.4.1.141	Tudor domain containing, OTU domain containing	30881	protein-coding gene	gene with protein product	tudor domain containing 13, N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase	300776	glycosyltransferase 28 domain containing 1, chromosome X open reading frame 45, asparagine-linked glycosylation 13 homolog (S. cerevisiae)	GLT28D1, CXorf45	NA	12477932	Standard	NM_018466	NM_018466	NA	Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.840G>A	X.37:g.110954908G>A		NA	B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	37	CCDS55477.1																																																																																			ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000272895.1		+	ENST00000394780.3	Silent	SNP	X : 110954908 - 110954908 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	126	35
ABCC12	94160	broad.mit.edu	37	16	48125031	48125031	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48125031C>T	ENST00000311303.3	-	23	3630	c.3285G>A	c.(3283-3285)tcG>tcA	p.S1095S	ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1095						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AATTTCTTACCGAAATGTATT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	140	141			NA	NA	16		NA											NA				48125031		2201	4300	6501	SO:0001630	splice_region_variant			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798	94160	94160		ATP binding cassette transporters / subfamily C	14640	protein-coding gene	gene with protein product		607041			NA	11435397, 11483364	Standard	NM_033226	NM_033226	NA	Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.3285+1G>A	16.37:g.48125031C>T		NA	Q49AL2|Q8TAF0|Q8TEY2	37	CCDS10730.1																																																																																			ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256837.1	Silent	-	ENST00000311303.3	Splice_Site	SNP	16 : 48125031 - 48125031 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	950	36
C6orf62	81688	broad.mit.edu	37	6	24709066	24709066	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24709066C>A	ENST00000378119.4	-	4	2670	c.503G>T	c.(502-504)gGa>gTa	p.G168V	C6orf62_ENST00000378102.3_Missense_Mutation_p.G139V|C6orf62_ENST00000540769.1_Missense_Mutation_p.G110V	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	168						intracellular				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						GACAACGATTCCAGTCTTGTC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													204	181	189			NA	NA	6		NA											NA				24709066		2203	4300	6503	SO:0001583	missense			AL136632	CCDS4559.1	6p22.1	2011-12-13			ENSG00000112308	ENSG00000112308	81688	81688			20998	protein-coding gene	gene with protein product	HBV X-transactivated protein 12				NA	11230166	Standard	NM_030939	NM_030939	NA	Approved	FLJ12619, DKFZP564G182, XTP12	uc003nel.3	Q9GZU0	OTTHUMG00000014361	ENST00000378119.4:c.503G>T	6.37:g.24709066C>A	ENSP00000367359:p.Gly168Val	NA	Q3LIB6|Q5JVZ2|Q5JVZ3|Q6IA63|Q9H1Z2	37	CCDS4559.1	.	.	.	.	.	.	.	.	.	.	C	35	5.493228	0.96339	.	.	ENSG00000112308	ENST00000378119;ENST00000540769;ENST00000378102	T;T;T	0.50001	0.76;0.76;0.76	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.51415	0.1673	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56823	-0.7915	10	0.87932	D	0	-7.5051	20.8794	0.99867	0.0:1.0:0.0:0.0	.	168	Q9GZU0	CF062_HUMAN	V	168;110;139	ENSP00000367359:G168V;ENSP00000446225:G110V;ENSP00000367342:G139V	ENSP00000367342:G139V	G	-	2	0	C6orf62	24817045	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.739000	0.84976	2.941000	0.99782	0.655000	0.94253	GGA	C6orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040017.1		-	ENST00000378119.4	Missense_Mutation	SNP	6 : 24709066 - 24709066 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	595	18
P4HA3	283208	broad.mit.edu	37	11	73980723	73980723	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73980723C>T	ENST00000331597.4	-	11	1486	c.1441G>A	c.(1441-1443)Gcc>Acc	p.A481T	P4HA3_ENST00000427714.2_Missense_Mutation_p.A481T	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	481	Fe2OG dioxygenase.					endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					CTGAGGTTGGCATAGATGAAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	84	90			NA	NA	11		NA											NA				73980723		2200	4293	6493	SO:0001583	missense			AY327887	CCDS8230.1, CCDS73347.1	11q13	2008-12-09	2008-12-09			ENSG00000149380	283208	283208			30135	protein-coding gene	gene with protein product	collagen prolyl 4-hydroxylase alpha(III)	608987	procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III		NA	14500733	Standard	NM_182904	XM_005273924	NA	Approved	C-P4Halpha(III)	uc001ouz.3	Q7Z4N8		ENST00000331597.4:c.1441G>A	11.37:g.73980723C>T	ENSP00000332170:p.Ala481Thr	NA	A0AV13|Q5EBL3|Q5JPA9	37	CCDS8230.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693484	0.48202	.	.	ENSG00000149380	ENST00000331597;ENST00000427714	T;T	0.59083	1.59;0.29	5.25	4.33	0.51752	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.096594	0.64402	D	0.000001	T	0.70369	0.3216	M	0.63169	1.94	0.44728	D	0.997721	D;B	0.69078	0.997;0.136	D;B	0.65323	0.934;0.142	T	0.72883	-0.4157	10	0.54805	T	0.06	-8.3059	13.6279	0.62178	0.0:0.8435:0.1565:0.0	.	481;481	B4DUD3;Q7Z4N8	.;P4HA3_HUMAN	T	481	ENSP00000332170:A481T;ENSP00000401749:A481T	ENSP00000332170:A481T	A	-	1	0	P4HA3	73658371	1.000000	0.71417	0.993000	0.49108	0.410000	0.31052	4.766000	0.62279	1.445000	0.47624	-0.175000	0.13238	GCC	P4HA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382988.1		-	ENST00000331597.4	Missense_Mutation	SNP	11 : 73980723 - 73980723 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	394	44
XPC	7508	broad.mit.edu	37	3	14187592	14187592	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14187592C>A	ENST00000285021.7	-	16	2886	c.2672G>T	c.(2671-2673)aGc>aTc	p.S891I	RP11-434D12.1_ENST00000601399.1_Intron|XPC_ENST00000449060.2_Missense_Mutation_p.S854I|RP11-434D12.1_ENST00000608606.1_Intron|AC093495.4_ENST00000420253.1_RNA|AC093495.4_ENST00000428681.3_RNA	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	891	Interaction with ERCC2 and GTF2H1.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGCTTGAGAGCTGGTCCCCTC	0.577		NA	Mis, N, F, S			skin basal cell, skin squamous cell, melanoma		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	xeroderma pigmentosum, complementation group C		E	0													41	44	43			NA	NA	3		NA											NA				14187592		1967	4164	6131	SO:0001583	missense	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767	7508	7508			12816	protein-coding gene	gene with protein product	xeroderma pigmentosum group C protein	613208			NA	1522891	Standard	NM_004628	NM_004628	NA	Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.2672G>T	3.37:g.14187592C>A	ENSP00000285021:p.Ser891Ile	NA	Q53GT7|Q96AX0	37	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537048	0.85812	.	.	ENSG00000154767	ENST00000285021;ENST00000449060	T;T	0.37058	1.22;1.25	5.7	5.7	0.88788	.	0.155128	0.64402	D	0.000020	T	0.52008	0.1708	M	0.68317	2.08	0.50313	D	0.999861	D;D	0.69078	0.995;0.997	P;P	0.59221	0.798;0.854	T	0.46992	-0.9151	10	0.38643	T	0.18	-26.1526	13.0849	0.59135	0.0:0.9269:0.0:0.0731	.	854;891	E9PH69;Q01831	.;XPC_HUMAN	I	891;854	ENSP00000285021:S891I;ENSP00000404002:S854I	ENSP00000285021:S891I	S	-	2	0	XPC	14162593	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.883000	0.39658	2.684000	0.91462	0.585000	0.79938	AGC	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340517.3		-	ENST00000285021.7	Missense_Mutation	SNP	3 : 14187592 - 14187592 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	183	36
ZNF331	55422	broad.mit.edu	37	19	54080543	54080543	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54080543C>T	ENST00000253144.9	+	7	2062	c.729C>T	c.(727-729)taC>taT	p.Y243Y	ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000511154.1_Silent_p.Y243Y|ZNF331_ENST00000512387.1_Silent_p.Y243Y|ZNF331_ENST00000449416.1_Silent_p.Y243Y|ZNF331_ENST00000411977.2_Silent_p.Y243Y|ZNF331_ENST00000513999.1_Silent_p.Y243Y|ZNF331_ENST00000511593.2_Silent_p.Y243Y	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		AGAAAGACTACGAATGCAAAG	0.463		NA	T	?	follicular thyroid adenoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		19	19q13.3-q13.4	55422	zinc finger protein 331		E	0													62	67	65			NA	NA	19		NA											NA				54080543		2203	4300	6503	SO:0001819	synonymous_variant			AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844	55422	55422		Zinc fingers, C2H2-type, -	15489	protein-coding gene	gene with protein product	rearranged in thyroid adenomas	606043			NA		Standard	NM_018555	NM_001079906	NA	Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.729C>T	19.37:g.54080543C>T		NA	Q96GJ4	37	CCDS33102.1																																																																																			ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000371366.1		+	ENST00000253144.9	Silent	SNP	19 : 54080543 - 54080543 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	489	111
WDR17	116966	broad.mit.edu	37	4	177073110	177073110	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:177073110C>A	ENST00000508596.1	+	17	2704	c.2452C>A	c.(2452-2454)Ctt>Att	p.L818I	WDR17_ENST00000393643.2_Missense_Mutation_p.L818I|WDR17_ENST00000280190.4_Missense_Mutation_p.L842I|WDR17_ENST00000507824.2_Missense_Mutation_p.L825I	NM_181265.3	NP_851782.3	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	842										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TATGGTTGAACTTGGAGAGGT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	90	91			NA	NA	4		NA											NA				177073110		2203	4300	6503	SO:0001583	missense			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627	116966	116966		WD repeat domain containing	16661	protein-coding gene	gene with protein product		609005			NA	12401215	Standard		NM_170710	NA	Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000508596.1:c.2452C>A	4.37:g.177073110C>A	ENSP00000422763:p.Leu818Ile	NA		37	CCDS43284.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.94|15.94	2.980614|2.980614	0.53827|0.53827	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824|ENST00000443118	T;T;T|.	0.60424|.	0.23;0.25;0.19|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71921|0.71921	0.3397|0.3397	L|L	0.53729|0.53729	1.69|1.69	0.80722|0.80722	D|D	1|1	P;D;D|.	0.76494|.	0.921;0.999;0.999|.	B;D;D|.	0.77557|.	0.346;0.99;0.99|.	T|T	0.68014|0.68014	-0.5521|-0.5521	10|5	0.33141|.	T|.	0.24|.	-22.248|-22.248	19.5608|19.5608	0.95371|0.95371	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	818;818;842|.	E7EP77;E7EQX0;Q8IZU2|.	.;.;WDR17_HUMAN|.	I|N	818;818;842;825|84	ENSP00000422763:L818I;ENSP00000377258:L818I;ENSP00000280190:L842I|.	ENSP00000280190:L842I|.	L|T	+|+	1|2	0|0	WDR17|WDR17	177310104|177310104	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.398000|7.398000	0.79919|0.79919	2.631000|2.631000	0.89168|0.89168	0.549000|0.549000	0.68633|0.68633	CTT|ACT	WDR17-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362335.1		+	ENST00000508596.1	Missense_Mutation	SNP	4 : 177073110 - 177073110 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	290	48
CD44	960	broad.mit.edu	37	11	35218302	35218302	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:35218302G>T	ENST00000352818.4	+	5	667				CD44_ENST00000433892.2_Intron|CD44_ENST00000434472.2_Intron|CD44_ENST00000415148.2_Intron|CD44_ENST00000433354.2_Missense_Mutation_p.S226I|CD44_ENST00000449691.2_Missense_Mutation_p.S226I|CD44_ENST00000360158.4_Intron|CD44_ENST00000526669.2_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000428726.2_Missense_Mutation_p.S226I|CD44_ENST00000437706.2_Missense_Mutation_p.S226I|CD44_ENST00000278386.6_Intron			P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	NA					cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	GCTTTGATGAGCACTAGTGCT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	87	91			NA	NA	11		NA											NA				35218302		2202	4298	6500	SO:0001627	intron_variant			M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508	960	960		CD molecules, Blood group antigens, Proteoglycans / Cell surface : Other	1681	protein-coding gene	gene with protein product	hematopoietic cell E- and L-selectin ligand, chondroitin sulfate proteoglycan 8	107269	CD44 antigen (homing function and Indian blood group system)	MIC4, MDU2, MDU3	NA	2454887	Standard	NM_000610	NM_001202555	NA	Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000352818.4:c.667+6690G>T	11.37:g.35218302G>T		NA	A5YRN9|D3DR12|D3DR13|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	37	CCDS55755.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.953|6.953	0.545717|0.545717	0.13312|0.13312	.|.	.|.	ENSG00000026508|ENSG00000026508	ENST00000525685|ENST00000433354;ENST00000449691;ENST00000437706;ENST00000428726	.|T;T;T;T	.|0.25250	.|1.81;1.81;1.81;1.81	4.53|4.53	1.29|1.29	0.21616|0.21616	.|.	.|0.314365	.|0.23530	.|N	.|0.047198	T|T	0.18257|0.18257	0.0438|0.0438	L|L	0.40543|0.40543	1.245|1.245	0.51233|0.51233	D|D	0.999912|0.999912	.|B	.|0.14012	.|0.009	.|B	.|0.15870	.|0.014	T|T	0.05468|0.05468	-1.0883|-1.0883	5|10	.|0.54805	.|T	.|0.06	-21.6781|-21.6781	6.578|6.578	0.22577|0.22577	0.0:0.1787:0.4537:0.3676|0.0:0.1787:0.4537:0.3676	.|.	.|226	.|P16070	.|CD44_HUMAN	S|I	94|226	.|ENSP00000414567:S226I;ENSP00000391008:S226I;ENSP00000403990:S226I;ENSP00000398632:S226I	.|ENSP00000398632:S226I	A|S	+|+	1|2	0|0	CD44|CD44	35174878|35174878	0.395000|0.395000	0.25254|0.25254	0.685000|0.685000	0.30070|0.30070	0.171000|0.171000	0.22731|0.22731	0.440000|0.440000	0.21592|0.21592	0.311000|0.311000	0.23014|0.23014	0.561000|0.561000	0.74099|0.74099	GCA|AGC	CD44-007	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388932.1		+	ENST00000352818.4	Intron	SNP	11 : 35218302 - 35218302 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	148	33
KAT6B	23522	broad.mit.edu	37	10	76744928	76744928	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76744928G>A	ENST00000287239.4	+	12	2953	c.2464G>A	c.(2464-2466)Gag>Aag	p.E822K	KAT6B_ENST00000372724.1_Missense_Mutation_p.E530K|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372711.1_Missense_Mutation_p.E639K|KAT6B_ENST00000372714.1_Missense_Mutation_p.E530K|KAT6B_ENST00000372725.1_Missense_Mutation_p.E530K	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	822	Catalytic.|Interaction with BRPF1.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding				NA						TTATGATGTCGAGCCATTCCT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	116	119			NA	NA	10		NA											NA				76744928		2203	4300	6503	SO:0001583	missense			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650	23522	23522		Chromatin-modifying enzymes / K-acetyltransferases, Zinc fingers, C2HC-type containing, Zinc fingers, PHD-type	17582	protein-coding gene	gene with protein product	MOZ-related factor	605880	MYST histone acetyltransferase (monocytic leukemia) 4	MYST4	NA	9205841, 10497217	Standard	NM_012330	NM_012330	NA	Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.2464G>A	10.37:g.76744928G>A	ENSP00000287239:p.Glu822Lys	NA	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	37	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945428	0.73672	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.80480	-1.35;-1.35;-1.38;-1.35;-1.36	6.07	6.07	0.98685	.	0.000000	0.50627	D	0.000114	D	0.92459	0.7606	M	0.90977	3.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.81914	0.995;0.993;0.986	D	0.92939	0.6370	10	0.87932	D	0	-14.2671	20.6452	0.99591	0.0:0.0:1.0:0.0	.	639;530;822	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	K	530;530;822;530;639	ENSP00000361810:E530K;ENSP00000361809:E530K;ENSP00000287239:E822K;ENSP00000361799:E530K;ENSP00000361796:E639K	ENSP00000287239:E822K	E	+	1	0	KAT6B	76414934	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.885000	0.99019	0.650000	0.86243	GAG	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048771.1		+	ENST00000287239.4	Missense_Mutation	SNP	10 : 76744928 - 76744928 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	299	56
MECOM	2122	broad.mit.edu	37	3	168833312	168833312	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:168833312G>T	ENST00000464456.1	-	7	2984	c.1784C>A	c.(1783-1785)gCc>gAc	p.A595D	MECOM_ENST00000264674.3_Missense_Mutation_p.A660D|MECOM_ENST00000433243.2_Missense_Mutation_p.A596D|MECOM_ENST00000472280.1_Missense_Mutation_p.A596D|MECOM_ENST00000460814.1_Missense_Mutation_p.A595D|MECOM_ENST00000392736.3_Missense_Mutation_p.A595D|MECOM_ENST00000494292.1_Missense_Mutation_p.A783D|MECOM_ENST00000468789.1_Missense_Mutation_p.A595D	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	5							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGTCCCACTGGCTCTACTCCT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	138	142			NA	NA	3		NA											NA				168833312		2203	4300	6503	SO:0001583	missense			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276	2122	2122		Zinc fingers, C2H2-type	3498	protein-coding gene	gene with protein product		165215	myelodysplasia syndrome 1, ecotropic viral integration site 1	MDS1, EVI1	NA	2115646, 8171026, 8643684	Standard	NM_005241, NM_004991	NM_001105077	NA	Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.1784C>A	3.37:g.168833312G>T	ENSP00000419770:p.Ala595Asp	NA	Q13466|Q6FH90	37	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814546	0.50527	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243;ENST00000492586	T;T;T;T;T;T;T;T;T	0.08458	3.38;3.37;3.34;3.48;3.32;3.37;3.33;3.48;3.09	5.61	5.61	0.85477	.	0.343104	0.21326	N	0.076363	T	0.21921	0.0528	L	0.49350	1.555	0.51012	D	0.999901	D;D;D;D;P	0.60575	0.988;0.985;0.98;0.985;0.932	P;P;P;P;P	0.57776	0.827;0.775;0.696;0.775;0.454	T	0.00071	-1.2131	10	0.46703	T	0.11	-9.0053	19.6299	0.95698	0.0:0.0:1.0:0.0	.	783;596;783;660;595	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	D	660;595;595;596;783;595;595;596;246	ENSP00000264674:A660D;ENSP00000376493:A595D;ENSP00000419770:A595D;ENSP00000420048:A596D;ENSP00000417899:A783D;ENSP00000419995:A595D;ENSP00000420466:A595D;ENSP00000394302:A596D;ENSP00000417506:A246D	ENSP00000264674:A660D	A	-	2	0	MECOM	170316006	1.000000	0.71417	1.000000	0.80357	0.077000	0.17291	5.709000	0.68384	2.639000	0.89480	0.655000	0.94253	GCC	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351519.1		-	ENST00000464456.1	Missense_Mutation	SNP	3 : 168833312 - 168833312 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	373	76
DMD	1756	broad.mit.edu	37	X	32834629	32834629	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:32834629G>T	ENST00000357033.4	-	6	692	c.486C>A	c.(484-486)agC>agA	p.S162R	DMD_ENST00000288447.4_Missense_Mutation_p.S154R|DMD_ENST00000378677.2_Missense_Mutation_p.S158R	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	162	Actin-binding.|CH 2.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CATCAGACCAGCTGGTGGTGA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	126	133			NA	NA	X		NA											NA				32834629		2202	4300	6502	SO:0001583	missense			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947	1756	1756			2928	protein-coding gene	gene with protein product	muscular dystrophy, Duchenne and Becker types	300377	dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, mental retardation, X-linked 85	MRX85	NA	3282674, 3607877, 23900271	Standard	NM_004006	NM_004019	NA	Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.486C>A	X.37:g.32834629G>T	ENSP00000354923:p.Ser162Arg	NA	Q02295|Q14169|Q14170|Q5JYU0|Q7KZ48|Q9UCW3|Q9UCW4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740766	0.69304	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	D;D;D	0.95342	-3.68;-3.68;-3.68	5.51	3.75	0.43078	Calponin homology domain (5);	0.000000	0.44285	U	0.000464	D	0.97873	0.9301	H	0.96861	3.895	0.80722	D	1	D;D;D;D;D	0.89917	0.994;0.999;1.0;0.998;1.0	P;D;D;D;D	0.91635	0.89;0.959;0.999;0.977;0.999	D	0.96914	0.9669	10	0.87932	D	0	.	9.1509	0.36962	0.2268:0.0:0.7732:0.0	.	162;154;154;162;158	F5H6K1;Q4G0X0;P11532-4;P11532;E9PDN5	.;.;.;DMD_HUMAN;.	R	154;158;162;162;39;154	ENSP00000367948:S158R;ENSP00000354923:S162R;ENSP00000288447:S154R	ENSP00000288447:S154R	S	-	3	2	DMD	32744550	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.819000	0.69243	0.515000	0.28320	-0.912000	0.02778	AGC	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056182.2		-	ENST00000357033.4	Missense_Mutation	SNP	X : 32834629 - 32834629 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	334	132
SUV420H2	84787	broad.mit.edu	37	19	55853326	55853326	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55853326G>T	ENST00000255613.3	+	2	270	c.22G>T	c.(22-24)Gca>Tca	p.A8S	AC020922.1_ENST00000539076.1_5'UTR|SUV420H2_ENST00000402499.4_3'UTR	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CAGAGTGACAGCACGAGAACT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	92	97			NA	NA	19		NA											NA				55853326		2203	4300	6503	SO:0001583	missense			BC005842	CCDS12922.1	19q13.42	2011-07-01			ENSG00000133247	ENSG00000133247	84787	84787		Chromatin-modifying enzymes / K-methyltransferases	28405	protein-coding gene	gene with protein product		613198			NA	12477932	Standard	NM_032701	NM_032701	NA	Approved	MGC2705, KMT5C	uc002qkj.4	Q86Y97	OTTHUMG00000150483	ENST00000255613.3:c.22G>T	19.37:g.55853326G>T	ENSP00000255613:p.Ala8Ser	NA	Q8WZ10|Q9BRZ6	37	CCDS12922.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841318	0.71488	.	.	ENSG00000133247	ENST00000255613;ENST00000402499	.	.	.	3.35	2.29	0.28610	.	0.100342	0.38436	N	0.001683	T	0.63355	0.2504	L	0.39147	1.195	0.44694	D	0.997688	D	0.67145	0.996	D	0.65874	0.939	T	0.64715	-0.6342	9	0.59425	D	0.04	0.7173	11.485	0.50348	0.0:0.0:0.8176:0.1823	.	8	Q86Y97	SV422_HUMAN	S	8	.	ENSP00000255613:A8S	A	+	1	0	SUV420H2	60545138	1.000000	0.71417	0.964000	0.40570	0.765000	0.43378	7.043000	0.76572	0.945000	0.37605	-0.311000	0.09066	GCA	SUV420H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318309.2		+	ENST00000255613.3	Missense_Mutation	SNP	19 : 55853326 - 55853326 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	720	141
FEM1A	55527	broad.mit.edu	37	19	4793649	4793649	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4793649G>A	ENST00000269856.3	+	1	1922	c.1783G>A	c.(1783-1785)Gcc>Acc	p.A595T	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	595					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CAACTGCCCGGCCATCATGAA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	54	56			NA	NA	19		NA											NA				4793649		2203	4300	6503	SO:0001583	missense			BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965	55527	55527		Ankyrin repeat domain containing	16934	protein-coding gene	gene with protein product		613538			NA	11441184	Standard		NM_018708	NA	Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.1783G>A	19.37:g.4793649G>A	ENSP00000269856:p.Ala595Thr	NA	B2RDI3|Q711P8|Q9NPN7|Q9NPW8	37	CCDS12135.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906090	0.33628	.	.	ENSG00000141965	ENST00000269856	T	0.70986	-0.53	4.92	3.85	0.44370	Ankyrin repeat-containing domain (4);	0.596241	0.16305	U	0.220273	T	0.56630	0.1998	N	0.20483	0.58	0.28969	N	0.889377	B	0.02656	0.0	B	0.10450	0.005	T	0.55573	-0.8120	10	0.49607	T	0.09	-9.6475	13.4172	0.60976	0.0:0.2677:0.7323:0.0	.	595	Q9BSK4	FEM1A_HUMAN	T	595	ENSP00000269856:A595T	ENSP00000269856:A595T	A	+	1	0	FEM1A	4744649	0.975000	0.34042	0.967000	0.41034	0.977000	0.68977	4.857000	0.62939	2.264000	0.75181	0.491000	0.48974	GCC	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459000.1		+	ENST00000269856.3	Missense_Mutation	SNP	19 : 4793649 - 4793649 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	274	41
NTNG2	84628	broad.mit.edu	37	9	135114495	135114495	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135114495C>T	ENST00000393229.3	+	6	1835	c.1059C>T	c.(1057-1059)tgC>tgT	p.C353C	NTNG2_ENST00000360670.3_Silent_p.C359C|NTNG2_ENST00000393228.4_Silent_p.C345C	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	353	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GCCCAGACTGCGAATGCTACG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	82	87			NA	NA	9		NA											NA				135114495		2203	4300	6503	SO:0001819	synonymous_variant			AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358	84628	84628		Netrins	14288	protein-coding gene	gene with protein product	Netrin-G2		netrin G1	NTNG1	NA		Standard	NM_032536	NM_032536	NA	Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.1059C>T	9.37:g.135114495C>T		NA	Q5JUJ2|Q6UXY0|Q96JH0	37	CCDS6946.1																																																																																			NTNG2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054779.1		+	ENST00000393229.3	Silent	SNP	9 : 135114495 - 135114495 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	415	63
OR10C1	442194	broad.mit.edu	37	6	29408712	29408712	+	Missense_Mutation	SNP	C	C	T	rs142718527	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29408712C>T	ENST00000444197.2	+	1	1630	c.920C>T	c.(919-921)aCg>aTg	p.T307M	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T307M(1)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ATCCAGAAAACGGTGCCTATG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	ovary(1)						C	MET/THR	2,3020		0,2,1509	87	92	91		920	2.2	0.4	6	dbSNP_134	91	0,5418		0,0,2709	no	missense	OR10C1	NM_013941.3	81	0,2,4218	TT,TC,CC	NA	0.0,0.0662,0.0237	benign	307/313	29408712	2,8438	1511	2709	4220	SO:0001583	missense				CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474	442194	442194		GPCR / Class A : Olfactory receptors	8165	protein-coding gene	gene with protein product			olfactory receptor, family 10, subfamily C, member 2, olfactory receptor, family 10, subfamily C, member 1	OR10C2	NA		Standard		NM_013941	NA	Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.920C>T	6.37:g.29408712C>T	ENSP00000419119:p.Thr307Met	NA	Q5SUN7|Q96R18	37	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	C	0.366	-0.936656	0.02340	6.62E-4	0.0	ENSG00000206474	ENST00000444197	T	0.00051	8.81	3.44	2.16	0.27623	.	0.353536	0.20583	N	0.089488	T	0.00039	0.0001	N	0.21282	0.65	0.09310	N	0.999997	B	0.10296	0.003	B	0.04013	0.001	T	0.28427	-1.0044	10	0.39692	T	0.17	.	7.4689	0.27336	0.0:0.11:0.0:0.89	.	307	Q96KK4	O10C1_HUMAN	M	307	ENSP00000419119:T307M	ENSP00000419119:T307M	T	+	2	0	OR10C1	29516691	0.001000	0.12720	0.446000	0.26920	0.022000	0.10575	0.243000	0.18106	0.412000	0.25729	-0.312000	0.09012	ACG	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076415.2		+	ENST00000444197.2	Missense_Mutation	SNP	6 : 29408712 - 29408712 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	521	100
MGRN1	23295	broad.mit.edu	37	16	4732890	4732890	+	Silent	SNP	C	C	T	rs61734738		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4732890C>T	ENST00000399577.5	+	14	1518	c.1425C>T	c.(1423-1425)gaC>gaT	p.D475D	MGRN1_ENST00000586183.1_Silent_p.D453D|MGRN1_ENST00000415496.1_Silent_p.D454D|MGRN1_ENST00000588994.1_Silent_p.D453D|MGRN1_ENST00000262370.7_Silent_p.D475D	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	475					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						AGGACGTGGACGCCCCTCCCC	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,,	2,3910		0,2,1954	31	33	33		1359,1425,1359,1425	-10	0	16	dbSNP_129	33	2,8278		0,2,4138	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MGRN1	NM_001142289.2,NM_001142290.2,NM_001142291.2,NM_015246.3	,,,	0,4,6092	TT,TC,CC	NA	0.0242,0.0511,0.0328	,,,	453/555,475/553,453/531,475/577	4732890	4,12188	1956	4140	6096	SO:0001819	synonymous_variant			AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23				NA	23295		RING-type (C3HC4) zinc fingers	20254	protein-coding gene	gene with protein product		607559	mahogunin, ring finger 1		NA	9628581	Standard		NM_015246	NA	Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.1425C>T	16.37:g.4732890C>T		NA	A4URL3|A4URL4|Q86W76	37	CCDS45402.1																																																																																			MGRN1-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432060.2		+	ENST00000399577.5	Silent	SNP	16 : 4732890 - 4732890 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	155	29
PLEKHN1	84069	broad.mit.edu	37	1	907699	907699	+	Silent	SNP	C	C	T	rs142121682		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:907699C>T	ENST00000379409.2	+	9	1083	c.1053C>T	c.(1051-1053)tgC>tgT	p.C351C	PLEKHN1_ENST00000379407.3_Silent_p.C311C|PLEKHN1_ENST00000379410.3_Silent_p.C299C			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	351	PH 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GCGTGGTGTGCGCCAGCTACG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	4,4400	8.1+/-20.4	0,4,2198	33	33	33		933,897	-4.2	0.3	1	dbSNP_134	33	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous	PLEKHN1	NM_001160184.1,NM_032129.2	,	0,4,6494	TT,TC,CC	NA	0.0,0.0908,0.0308	,	311/577,299/612	907699	4,12992	2202	4296	6498	SO:0001819	synonymous_variant			AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583	84069	84069		Pleckstrin homology (PH) domain containing	25284	protein-coding gene	gene with protein product					NA	11230166	Standard	NM_032129	NM_032129	NA	Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.1053C>T	1.37:g.907699C>T		NA	Q494U2|Q5SV98|Q9H0M7	37																																																																																				PLEKHN1-005	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000473256.1		+	ENST00000379409.2	Silent	SNP	1 : 907699 - 907699 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	248	27
OR2L8	391190	broad.mit.edu	37	1	248112729	248112729	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248112729C>T	ENST00000357191.3	+	1	570	c.570C>T	c.(568-570)gaC>gaT	p.D190D	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CCTGCATGGACACCTGGGTCT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	57	81			NA	NA	1		NA											NA				248112729		2203	4297	6500	SO:0001819	synonymous_variant			BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936	391190	391190		GPCR / Class A : Olfactory receptors	15014	protein-coding gene	gene with protein product			olfactory receptor, family 2, subfamily L, member 8		NA		Standard		NM_001001963	NA	Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.570C>T	1.37:g.248112729C>T		NA	Q6IF03	37	CCDS31101.1																																																																																			OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096853.2		+	ENST00000357191.3	Silent	SNP	1 : 248112729 - 248112729 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	418	70
GRIN3A	116443	broad.mit.edu	37	9	104449311	104449311	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104449311G>T	ENST00000361820.3	-	2	1471	c.871C>A	c.(871-873)Ctt>Att	p.L291I		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	291					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	ATAGAACCAAGGTGGAACTTG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	132	138			NA	NA	9		NA											NA				104449311		2203	4300	6503	SO:0001583	missense				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785	116443	116443		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	16767	protein-coding gene	gene with protein product		606650			NA		Standard		NM_133445	NA	Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.871C>A	9.37:g.104449311G>T	ENSP00000355155:p.Leu291Ile	NA	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	37	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238174	0.58886	.	.	ENSG00000198785	ENST00000361820	T	0.12147	2.71	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000001	T	0.15782	0.0380	L	0.59436	1.845	0.52501	D	0.999952	B	0.29988	0.264	B	0.28011	0.085	T	0.02958	-1.1089	10	0.23891	T	0.37	.	14.2897	0.66268	0.0706:0.0:0.9294:0.0	.	291	Q8TCU5	NMD3A_HUMAN	I	291	ENSP00000355155:L291I	ENSP00000355155:L291I	L	-	1	0	GRIN3A	103489132	1.000000	0.71417	0.996000	0.52242	0.726000	0.41606	2.603000	0.46266	2.759000	0.94783	0.557000	0.71058	CTT	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053453.1		-	ENST00000361820.3	Missense_Mutation	SNP	9 : 104449311 - 104449311 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	517	69
CLTC	1213	broad.mit.edu	37	17	57758684	57758684	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57758684G>A	ENST00000269122.3	+	20	3368	c.3094G>A	c.(3094-3096)Gca>Aca	p.A1032T	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.A1032T	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1032	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TATCCTCACTGCAATTAAGGC	0.358		NA	T	ALK, TFE3	ALCL, renal 									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		17	17q11-qter	1213	clathrin, heavy polypeptide (Hc)		L	0													87	84	85			NA	NA	17		NA											NA				57758684		2203	4299	6502	SO:0001583	missense			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367	1213	1213			2092	protein-coding gene	gene with protein product		118955	clathrin, heavy polypeptide (Hc), clathrin, heavy chain, clathrin, heavy polypeptide-like 2	CLTCL2	NA	1765375, 7584026	Standard	NM_004859	NM_004859	NA	Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.3094G>A	17.37:g.57758684G>A	ENSP00000269122:p.Ala1032Thr	NA	D3DU00|Q6N0A0|Q86TF2	37	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	G	34	5.310739	0.95629	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.21932	1.98;1.98	5.41	5.41	0.78517	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57110	0.2031	M	0.90082	3.085	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.91635	0.999;0.992	T	0.65776	-0.6086	10	0.87932	D	0	.	19.5641	0.95386	0.0:0.0:1.0:0.0	.	1032;1032	Q00610;Q00610-2	CLH1_HUMAN;.	T	1032	ENSP00000269122:A1032T;ENSP00000376763:A1032T	ENSP00000269122:A1032T	A	+	1	0	CLTC	55113466	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	9.813000	0.99286	2.680000	0.91292	0.557000	0.71058	GCA	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258859.1		+	ENST00000269122.3	Missense_Mutation	SNP	17 : 57758684 - 57758684 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	425	94
PTPN13	5783	broad.mit.edu	37	4	87672030	87672030	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:87672030A>C	ENST00000427191.2	+	18	3538	c.3058A>C	c.(3058-3060)Aaa>Caa	p.K1020Q	PTPN13_ENST00000436978.1_Missense_Mutation_p.K1020Q|PTPN13_ENST00000316707.6_Intron|PTPN13_ENST00000411767.2_Missense_Mutation_p.K1020Q|PTPN13_ENST00000511467.1_Missense_Mutation_p.K1020Q	NM_006264.2	NP_006255.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1020						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGGAGTGACAAAACTTAATAA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	42	42			NA	NA	4		NA											NA				87672030		1834	4078	5912	SO:0001583	missense				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629	NA	5783		Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor	9646	protein-coding gene	gene with protein product		600267			NA	8287977	Standard		NM_006264	NA	Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000427191.2:c.3058A>C	4.37:g.87672030A>C	ENSP00000408368:p.Lys1020Gln	NA	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	37	CCDS47095.1	.	.	.	.	.	.	.	.	.	.	A	11.05	1.523597	0.27299	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T	0.52526	0.66;0.71;0.66;0.71	6.16	4.97	0.65823	.	0.112377	0.39083	N	0.001464	T	0.40222	0.1108	L	0.41236	1.265	0.35504	D	0.800014	B;B;B	0.24618	0.063;0.065;0.107	B;B;B	0.22386	0.039;0.015;0.034	T	0.44802	-0.9304	10	0.37606	T	0.19	.	13.8654	0.63585	0.8731:0.1269:0.0:0.0	.	1020;1020;1020	Q12923-3;Q12923;Q12923-4	.;PTN13_HUMAN;.	Q	1020;1020;1020;1020;988	ENSP00000408368:K1020Q;ENSP00000394794:K1020Q;ENSP00000407249:K1020Q;ENSP00000426626:K1020Q	ENSP00000349909:K988Q	K	+	1	0	PTPN13	87891054	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.163000	0.64948	1.115000	0.41800	0.528000	0.53228	AAA	PTPN13-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363189.1		+	ENST00000427191.2	Missense_Mutation	SNP	4 : 87672030 - 87672030 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	116	19
MED13L	23389	broad.mit.edu	37	12	116421119	116421119	+	Silent	SNP	C	C	T	rs141818426	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:116421119C>T	ENST00000281928.3	-	21	4964	c.4758G>A	c.(4756-4758)ccG>ccA	p.P1586P		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1586	Ser-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ACGATGAGACCGGTGGCACAG	0.532		NA											C	9	0.0041	0.002	NA	2184	0.01	0.9999	,	,	NA	4e-04	NA	NA	NA	0.0042	0.9895	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				0								C		3,4403	6.2+/-15.9	0,3,2200	135	124	128		4758	-10.4	0.1	12	dbSNP_134	128	0,8600		0,0,4300	no	coding-synonymous	MED13L	NM_015335.4		0,3,6500	TT,TC,CC	NA	0.0,0.0681,0.0231		1586/2211	116421119	3,13003	2203	4300	6503	SO:0001819	synonymous_variant			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066	23389	23389			22962	protein-coding gene	gene with protein product		608771	thyroid hormone receptor associated protein 2	THRAP2	NA		Standard		NM_015335	NA	Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.4758G>A	12.37:g.116421119C>T		NA	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	37	CCDS9177.1	9	0.004120879120879121	1	0.0020325203252032522	0	0.0	8	0.013986013986013986	0	0.0	C	8.603	0.887370	0.17540	6.81E-4	0.0	ENSG00000123066	ENST00000549786	.	.	.	5.87	-10.4	0.00318	.	.	.	.	.	T	0.11410	0.0278	.	.	.	0.19775	N	0.99995	.	.	.	.	.	.	T	0.12016	-1.0564	4	.	.	.	.	4.4952	0.11833	0.0789:0.2318:0.3869:0.3024	.	.	.	.	Q	41	.	.	R	-	2	0	MED13L	114905502	0.000000	0.05858	0.081000	0.20488	0.999000	0.98932	-2.537000	0.00939	-1.928000	0.01059	0.655000	0.94253	CGG	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403879.3		-	ENST00000281928.3	Silent	SNP	12 : 116421119 - 116421119 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	387	70
ZNF354B	117608	broad.mit.edu	37	5	178310832	178310832	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178310832A>C	ENST00000322434.3	+	5	1605	c.1379A>C	c.(1378-1380)cAt>cCt	p.H460P		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGCGAATTCATACTGGAGAA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	81	80			NA	NA	5		NA											NA				178310832		2203	4300	6503	SO:0001583	missense			AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338	117608	117608		Zinc fingers, C2H2-type, -	17197	protein-coding gene	gene with protein product					NA		Standard	NM_058230	NM_058230	NA	Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.1379A>C	5.37:g.178310832A>C	ENSP00000327143:p.His460Pro	NA	A8K0V2|Q5U5Z4	37	CCDS4439.1	.	.	.	.	.	.	.	.	.	.	A	13.57	2.276777	0.40294	.	.	ENSG00000178338	ENST00000322434	T	0.67698	-0.28	3.68	2.48	0.30137	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.74997	0.3790	H	0.95079	3.62	0.39204	D	0.963207	B	0.29886	0.26	B	0.34418	0.182	T	0.75434	-0.3319	9	0.87932	D	0	-51.6748	8.1574	0.31178	0.7958:0.2042:0.0:0.0	.	460	Q96LW1	Z354B_HUMAN	P	460	ENSP00000327143:H460P	ENSP00000327143:H460P	H	+	2	0	ZNF354B	178243438	1.000000	0.71417	0.704000	0.30370	0.600000	0.36913	6.232000	0.72313	0.470000	0.27294	0.454000	0.30748	CAT	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253482.1		+	ENST00000322434.3	Missense_Mutation	SNP	5 : 178310832 - 178310832 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	551	125
NPY	4852	broad.mit.edu	37	7	24329150	24329150	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24329150T>G	ENST00000407573.1	+	4	511	c.221T>G	c.(220-222)aTt>aGt	p.I74S	NPY_ENST00000242152.2_Missense_Mutation_p.I74S|NPY_ENST00000405982.1_Missense_Mutation_p.I74S			P01303	NPY_HUMAN	neuropeptide Y	74					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						GAGACACTGATTTCAGACCTC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	115	118			NA	NA	7		NA											NA				24329150		2203	4300	6503	SO:0001583	missense			K01911	CCDS5387.1	7p15.3	2013-02-26			ENSG00000122585	ENSG00000122585	4852	4852		Endogenous ligands	7955	protein-coding gene	gene with protein product	prepro-neuropeptide Y	162640			NA		Standard	NM_000905	NM_000905	NA	Approved	PYY4	uc003sww.2	P01303	OTTHUMG00000022973	ENST00000407573.1:c.221T>G	7.37:g.24329150T>G	ENSP00000384364:p.Ile74Ser	NA		37	CCDS5387.1	.	.	.	.	.	.	.	.	.	.	T	17.93	3.508110	0.64410	.	.	ENSG00000122585	ENST00000242152;ENST00000407573;ENST00000405982	T;T;T	0.13420	2.59;2.59;2.59	5.78	5.78	0.91487	.	0.158711	0.56097	D	0.000027	T	0.13200	0.0320	.	.	.	0.54753	D	0.999986	P	0.36683	0.565	B	0.27608	0.081	T	0.01904	-1.1250	9	0.87932	D	0	-5.3047	16.1141	0.81289	0.0:0.0:0.0:1.0	.	74	P01303	NPY_HUMAN	S	74	ENSP00000242152:I74S;ENSP00000384364:I74S;ENSP00000385282:I74S	ENSP00000242152:I74S	I	+	2	0	NPY	24295675	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.979000	0.76154	2.214000	0.71695	0.528000	0.53228	ATT	NPY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326748.1		+	ENST00000407573.1	Missense_Mutation	SNP	7 : 24329150 - 24329150 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	80
SRRM1	10250	broad.mit.edu	37	1	24996768	24996768	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24996768A>C	ENST00000323848.9	+	15	2677	c.2362A>C	c.(2362-2364)Aag>Cag	p.K788Q	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.K797Q|SRRM1_ENST00000447431.2_Missense_Mutation_p.K800Q	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	788	Pro-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		ACCGGTCAAAAAGGCCAAAAG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(68;897 1494 3282 17478)							NA				0													94	90	92			NA	NA	1		NA											NA				24996768		2203	4300	6503	SO:0001583	missense			AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226	10250	10250			16638	protein-coding gene	gene with protein product	Ser/Arg-related nuclear matrix protein, plenty of prolines 101-like	605975			NA	9531537	Standard	NM_005839	NM_005839	NA	Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.2362A>C	1.37:g.24996768A>C	ENSP00000326261:p.Lys788Gln	NA	O60585|Q5VVN4	37	CCDS255.1	.	.	.	.	.	.	.	.	.	.	A	19.99	3.929630	0.73327	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.56275	0.68;0.47;0.47	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000010	T	0.48978	0.1530	L	0.46157	1.445	0.80722	D	1	P;P	0.40731	0.728;0.608	B;B	0.38803	0.282;0.146	T	0.54296	-0.8315	10	0.62326	D	0.03	-3.162	15.7229	0.77728	1.0:0.0:0.0:0.0	.	800;788	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	Q	788;800;797	ENSP00000326261:K788Q;ENSP00000391430:K800Q;ENSP00000363510:K797Q	ENSP00000326261:K788Q	K	+	1	0	SRRM1	24869355	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.410000	0.90225	2.116000	0.64780	0.528000	0.53228	AAG	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000009292.2		+	ENST00000323848.9	Missense_Mutation	SNP	1 : 24996768 - 24996768 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	630	70
CHD3	1107	broad.mit.edu	37	17	7814233	7814233	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7814233G>A	ENST00000380358.4	+	39	6001	c.6000G>A	c.(5998-6000)ggG>ggA	p.G2000G	CHD3_ENST00000358181.4_Silent_p.G1907G|CHD3_ENST00000330494.7_Silent_p.G1941G	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1941					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CACCCGTAGGGGCCCTGGCCG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	68	65			NA	NA	17		NA											NA				7814233		2202	4298	6500	SO:0001819	synonymous_variant			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004	1107	1107		Zinc fingers, PHD-type	1918	protein-coding gene	gene with protein product		602120			NA	9326634, 7560064	Standard	NM_001005273	NM_001005271	NA	Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000380358.4:c.6000G>A	17.37:g.7814233G>A		NA	D3DTQ9|Q9Y4I0	37	CCDS32553.2	.	.	.	.	.	.	.	.	.	.	g	16.12	3.032915	0.54790	.	.	ENSG00000170004	ENST00000439235;ENST00000449744	.	.	.	5.27	5.27	0.74061	.	0.000000	0.43919	D	0.000514	T	0.73916	0.3648	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.75263	-0.3379	6	0.56958	D	0.05	-28.7992	14.888	0.70584	0.0:0.0:0.8478:0.1522	.	.	.	.	S	285;179	.	ENSP00000395252:G285S	G	+	1	0	CHD3	7754958	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.149000	0.31626	2.745000	0.94114	0.604000	0.83254	GGC	CHD3-003	NOVEL	not_organism_supported|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318052.1		+	ENST00000380358.4	Silent	SNP	17 : 7814233 - 7814233 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1135	73
CATSPERG	57828	broad.mit.edu	37	19	38858390	38858390	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38858390C>A	ENST00000409235.3	+	25	3019	c.2904C>A	c.(2902-2904)atC>atA	p.I968I	CATSPERG_ENST00000410018.1_Silent_p.I928I|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	968					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						AGGACGAAATCTACCGCTTCA	0.592		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	19		NA											NA				38858390		2203	4300	6503	SO:0001819	synonymous_variant			AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338	57828	57828			25243	protein-coding gene	gene with protein product		613452	chromosome 19 open reading frame 15, cation channel, sperm-associated, gamma	C19orf15	NA	19516020	Standard	NM_021185	NM_021185	NA	Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2904C>A	19.37:g.38858390C>A		NA	A6NEG6|Q659E1	37	CCDS12514.2																																																																																			CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330204.1		+	ENST00000409235.3	Silent	SNP	19 : 38858390 - 38858390 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1655	69
TRAF4	9618	broad.mit.edu	37	17	27071139	27071139	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27071139C>T	ENST00000262395.5	+	1	138	c.9C>T	c.(7-9)ggC>ggT	p.G3G	TRAF4_ENST00000262396.6_Silent_p.G3G|TRAF4_ENST00000444415.3_Silent_p.G3G	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	3					apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			CCATGCCTGGCTTCGACTACA	0.746		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	16	15			NA	NA	17		NA											NA				27071139		2200	4294	6494	SO:0001819	synonymous_variant			X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604	9618	9618		RING-type (C3HC4) zinc fingers	12034	protein-coding gene	gene with protein product		602464			NA	7592751, 7490069	Standard	NM_145751	NM_004295	NA	Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.9C>T	17.37:g.27071139C>T		NA	O75615|Q14848|Q2KJU4|Q2PJN8	37	CCDS11243.1																																																																																			TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255944.2		+	ENST00000262395.5	Silent	SNP	17 : 27071139 - 27071139 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	136	21
SEC14L5	9717	broad.mit.edu	37	16	5053443	5053443	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:5053443C>T	ENST00000251170.7	+	11	1351	c.1171C>T	c.(1171-1173)Cgg>Tgg	p.R391W		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	391	CRAL-TRIO.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						ACTCAACATGCGGCACCTGTG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TRP/ARG	0,3876		0,0,1938	41	48	46		1171	1.2	1	16		46	1,8273		0,1,4136	no	missense	SEC14L5	NM_014692.1	101	0,1,6074	TT,TC,CC	NA	0.0121,0.0,0.0082	probably-damaging	391/697	5053443	1,12149	1938	4137	6075	SO:0001583	missense			AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184	9717	9717			29032	protein-coding gene	gene with protein product					NA	9455477	Standard		NM_014692	NA	Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1171C>T	16.37:g.5053443C>T	ENSP00000251170:p.Arg391Trp	NA		37	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619072	0.66787	0.0	1.21E-4	ENSG00000103184	ENST00000251170	T	0.75704	-0.96	4.5	1.17	0.20885	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.075345	0.48767	D	0.000176	D	0.86058	0.5842	M	0.84683	2.71	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.88142	0.2845	10	0.87932	D	0	-24.0061	14.4519	0.67392	0.6133:0.3867:0.0:0.0	.	391	O43304	S14L5_HUMAN	W	391	ENSP00000251170:R391W	ENSP00000251170:R391W	R	+	1	2	SEC14L5	4993444	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.010000	0.29898	0.489000	0.27749	0.555000	0.69702	CGG	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434379.1		+	ENST00000251170.7	Missense_Mutation	SNP	16 : 5053443 - 5053443 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	480	91
UBQLN1	29979	broad.mit.edu	37	9	86293447	86293447	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86293447C>A	ENST00000376395.4	-	5	1302	c.779G>T	c.(778-780)aGc>aTc	p.S260I	UBQLN1_ENST00000257468.7_Missense_Mutation_p.S260I	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	260					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TTCTAGGTTGCTCAAAGCTCG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(186;1284 2073 12755 14558 18426)							NA				0													345	351	349			NA	NA	9		NA											NA				86293447		2203	4300	6503	SO:0001583	missense			AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018	29979	29979		Ubiquilin family	12508	protein-coding gene	gene with protein product		605046			NA	9303440, 10807547	Standard	NM_013438	NM_013438	NA	Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.779G>T	9.37:g.86293447C>A	ENSP00000365576:p.Ser260Ile	NA	Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	37	CCDS6663.1	.	.	.	.	.	.	.	.	.	.	C	33	5.235092	0.95207	.	.	ENSG00000135018	ENST00000376395;ENST00000257468;ENST00000529923	T;T;T	0.80738	-1.41;-1.41;-1.41	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.90338	0.6977	M	0.78916	2.43	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.995;0.996	D	0.90439	0.4430	10	0.62326	D	0.03	.	19.8449	0.96704	0.0:1.0:0.0:0.0	.	260;260	Q9UMX0-2;Q9UMX0	.;UBQL1_HUMAN	I	260;260;57	ENSP00000365576:S260I;ENSP00000257468:S260I;ENSP00000434194:S57I	ENSP00000257468:S260I	S	-	2	0	UBQLN1	85483267	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.426000	0.80270	2.680000	0.91292	0.655000	0.94253	AGC	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052834.1		-	ENST00000376395.4	Missense_Mutation	SNP	9 : 86293447 - 86293447 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2305	399
AKTIP	64400	broad.mit.edu	37	16	53529183	53529183	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53529183A>G	ENST00000394657.7	-	4	478	c.304T>C	c.(304-306)Tct>Cct	p.S102P	AKTIP_ENST00000300245.4_Missense_Mutation_p.S102P|AKTIP_ENST00000570004.1_Missense_Mutation_p.S102P	NM_001012398.1|NM_022476.2	NP_001012398.1|NP_071921.1	Q9H8T0	AKTIP_HUMAN	AKT interacting protein	NA					apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				CTTAATGCAGAGCGATAAGAT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	87	90			NA	NA	16		NA											NA				53529183		2198	4300	6498	SO:0001583	missense			AK023320	CCDS10749.1	16q12.2	2010-01-14	2007-01-16	2007-01-16	ENSG00000166971	ENSG00000166971	64400	64400		Ubiquitin-conjugating enzymes E2	16710	protein-coding gene	gene with protein product		608483	fused toes (mouse) homolog, fused toes homolog (mouse)	FTS	NA	7818539, 8626685	Standard	NM_022476	XM_005256094	NA	Approved	FLJ13258	uc002ehl.3	Q9H8T0	OTTHUMG00000133199	ENST00000394657.7:c.304T>C	16.37:g.53529183A>G	ENSP00000378152:p.Ser102Pro	NA	Q503B1|Q53H38	37	CCDS10749.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.896442	0.91962	.	.	ENSG00000166971	ENST00000394657;ENST00000300245	T;T	0.73152	-0.72;-0.72	5.55	5.55	0.83447	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.051077	0.85682	D	0.000000	D	0.83862	0.5346	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	1.0;0.993;0.976	D;P;D	0.91635	0.999;0.885;0.936	D	0.85926	0.1449	10	0.87932	D	0	-4.2089	16.0135	0.80420	1.0:0.0:0.0:0.0	.	102;102;102	B4E0S4;Q9H8T0-2;Q9H8T0	.;.;AKTIP_HUMAN	P	102	ENSP00000378152:S102P;ENSP00000300245:S102P	ENSP00000300245:S102P	S	-	1	0	AKTIP	52086684	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.126000	0.94411	2.242000	0.73789	0.533000	0.62120	TCT	AKTIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256909.4		-	ENST00000394657.7	Missense_Mutation	SNP	16 : 53529183 - 53529183 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	306	33
USP46	64854	broad.mit.edu	37	4	53468125	53468125	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:53468125C>T	ENST00000441222.3	-	7	1002	c.818G>A	c.(817-819)cGt>cAt	p.R273H	USP46_ENST00000451218.2_Missense_Mutation_p.R246H|USP46_ENST00000508499.1_Missense_Mutation_p.R266H	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	NA					behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			GAAGACCACACGGTAAGACAG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	123	123			NA	NA	4		NA											NA				53468125		2095	4228	6323	SO:0001583	missense			AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189	64854	64854		Ubiquitin-specific peptidases	20075	protein-coding gene	gene with protein product		612849	ubiquitin specific protease 46		NA	12838346	Standard	NM_022832	NM_022832	NA	Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.818G>A	4.37:g.53468125C>T	ENSP00000407818:p.Arg273His	NA	B7Z3Y7|B7Z675|B7Z7S3|Q80V95|Q9H7U4|Q9H9T8	37	CCDS47053.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628849	0.67015	.	.	ENSG00000109189	ENST00000441222;ENST00000451218;ENST00000508499	T;T;T	0.32023	1.47;1.47;1.47	5.17	5.17	0.71159	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.56097	D	0.000035	T	0.52354	0.1729	L	0.53780	1.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.75484	0.986;0.971;0.964;0.939	T	0.51663	-0.8677	10	0.59425	D	0.04	-13.6899	18.0298	0.89279	0.0:1.0:0.0:0.0	.	157;261;273;266	P62068-2;P62068-4;P62068;P62068-3	.;.;UBP46_HUMAN;.	H	273;246;266	ENSP00000407818:R273H;ENSP00000390102:R246H;ENSP00000423244:R266H	ENSP00000407818:R273H	R	-	2	0	USP46	53162882	1.000000	0.71417	0.937000	0.37676	0.011000	0.07611	7.776000	0.85560	2.559000	0.86315	0.650000	0.86243	CGT	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361516.2		-	ENST00000441222.3	Missense_Mutation	SNP	4 : 53468125 - 53468125 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	346	77
ZDBF2	57683	broad.mit.edu	37	2	207169653	207169653	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207169653G>A	ENST00000374423.3	+	5	787	c.401G>A	c.(400-402)cGa>cAa	p.R134Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	134							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GTTTCAGTTCGACCATCAGTT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	59	60			NA	NA	2		NA											NA				207169653		1891	4120	6011	SO:0001583	missense			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186	57683	57683		Zinc fingers, DBF-type	29313	protein-coding gene	gene with protein product					NA	10997877	Standard	NM_020923	XM_005246711	NA	Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.401G>A	2.37:g.207169653G>A	ENSP00000363545:p.Arg134Gln	NA	Q6ZNP7|Q6ZSN8	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040714	0.75732	.	.	ENSG00000204186	ENST00000374423	T	0.17854	2.25	5.16	4.28	0.50868	.	0.000000	0.29745	N	0.011318	T	0.25269	0.0614	L	0.53249	1.67	0.09310	N	1	D	0.61697	0.99	P	0.58331	0.837	T	0.14924	-1.0455	10	0.48119	T	0.1	.	3.991	0.09537	0.0872:0.2749:0.4964:0.1415	.	134	Q9HCK1	ZDBF2_HUMAN	Q	134	ENSP00000363545:R134Q	ENSP00000363545:R134Q	R	+	2	0	ZDBF2	206877898	0.012000	0.17670	0.811000	0.32455	0.976000	0.68499	0.947000	0.29082	2.402000	0.81655	0.650000	0.86243	CGA	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336458.1		+	ENST00000374423.3	Missense_Mutation	SNP	2 : 207169653 - 207169653 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	178	51
ZNF202	7753	broad.mit.edu	37	11	123601239	123601239	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123601239G>T	ENST00000529691.1	-	2	577	c.358C>A	c.(358-360)Ctg>Atg	p.L120M	ZNF202_ENST00000530393.1_Missense_Mutation_p.L120M|ZNF202_ENST00000336139.4_Missense_Mutation_p.L120M			O95125	ZN202_HUMAN	zinc finger protein 202	120	SCAN box.				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CCCTCCACCAGCGTCACTGCC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	104	107			NA	NA	11		NA											NA				123601239		2202	4299	6501	SO:0001583	missense			AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261	7753	7753		Zinc fingers, C2H2-type, -, -, -	12994	protein-coding gene	gene with protein product		603430			NA	9790754	Standard	NM_003455	XM_005271659	NA	Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.358C>A	11.37:g.123601239G>T	ENSP00000433881:p.Leu120Met	NA	B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	37	CCDS8443.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279525	0.59758	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691;ENST00000533463	T;T;T;T	0.08807	3.05;3.05;3.05;3.05	4.57	3.66	0.41972	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.37304	N	0.002147	T	0.19725	0.0474	L	0.48174	1.505	0.33660	D	0.609537	D	0.76494	0.999	D	0.91635	0.999	T	0.14587	-1.0467	10	0.59425	D	0.04	-12.847	10.1465	0.42767	0.0971:0.0:0.9029:0.0	.	120	O95125	ZN202_HUMAN	M	120	ENSP00000337724:L120M;ENSP00000432504:L120M;ENSP00000433881:L120M;ENSP00000431223:L120M	ENSP00000337724:L120M	L	-	1	2	ZNF202	123106449	0.945000	0.32115	0.997000	0.53966	0.913000	0.54294	1.429000	0.34903	1.146000	0.42352	0.455000	0.32223	CTG	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387419.1		-	ENST00000529691.1	Missense_Mutation	SNP	11 : 123601239 - 123601239 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	776	135
MASTL	84930	broad.mit.edu	37	10	27459101	27459101	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27459101G>A	ENST00000375946.4	+	8	1816	c.1213G>A	c.(1213-1215)Gat>Aat	p.D405N	MASTL_ENST00000342386.6_Missense_Mutation_p.D405N|MASTL_ENST00000375940.4_Missense_Mutation_p.D405N|MASTL_ENST00000477034.1_3'UTR	NM_001172303.1|NM_032844.3	NP_001165774.1|NP_116233.2	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	405	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGTAGAACTGGATGTAAATAA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	84	83			NA	NA	10		NA											NA				27459101		2203	4300	6503	SO:0001583	missense			BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539	84930	84930			19042	protein-coding gene	gene with protein product		608221			NA		Standard	NM_032844	NM_001172303	NA	Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375946.4:c.1213G>A	10.37:g.27459101G>A	ENSP00000365113:p.Asp405Asn	NA	Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	37	CCDS7153.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.379084	0.24944	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.78003	-1.14;-1.14;-1.14	5.92	3.91	0.45181	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.694533	0.14607	N	0.309297	T	0.75110	0.3805	M	0.67953	2.075	0.09310	N	1	P;P;P	0.41848	0.646;0.514;0.763	B;B;B	0.41723	0.365;0.216;0.229	T	0.64542	-0.6383	10	0.30854	T	0.27	-13.2781	10.2052	0.43109	0.0:0.1064:0.6707:0.2228	.	405;405;405	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	N	405	ENSP00000365113:D405N;ENSP00000343446:D405N;ENSP00000365107:D405N	ENSP00000343446:D405N	D	+	1	0	MASTL	27499107	0.000000	0.05858	0.829000	0.32907	0.393000	0.30537	0.040000	0.13905	1.484000	0.48361	0.650000	0.86243	GAT	MASTL-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047319.1		+	ENST00000375946.4	Missense_Mutation	SNP	10 : 27459101 - 27459101 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	564	100
CACNA1A	773	broad.mit.edu	37	19	13370400	13370400	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13370400A>G	ENST00000360228.5	-	27	4365	c.4366T>C	c.(4366-4368)Tcc>Ccc	p.S1456P	CACNA1A_ENST00000573710.2_Missense_Mutation_p.S1457P	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1457			V -> L (in FHM1; dbSNP:rs121908237).		cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TCTCCCGTGGACACGGTGAAG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	44	43			NA	NA	19		NA											NA				13370400		1953	4136	6089	SO:0001583	missense			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837	773	773		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP	NA	8825650, 16382099, 23827678	Standard	NM_000068	NM_000068	NA	Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.4366T>C	19.37:g.13370400A>G	ENSP00000353362:p.Ser1456Pro	NA	P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9UDC4	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	A	17.93	3.510055	0.64522	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084;ENST00000445042	D	0.98531	-4.98	4.88	4.88	0.63580	Ion transport (1);	0.137604	0.49916	D	0.000130	D	0.99102	0.9691	M	0.92604	3.325	0.58432	D	0.999997	P;P;D	0.89917	0.883;0.928;1.0	P;P;D	0.91635	0.747;0.703;0.999	D	0.99414	1.0931	10	0.72032	D	0.01	.	13.5025	0.61465	1.0:0.0:0.0:0.0	.	1457;1460;1456	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	P	1456;1460;1457;1457;73	ENSP00000353362:S1456P	ENSP00000317661:S1457P	S	-	1	0	CACNA1A	13231400	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	9.337000	0.96545	1.838000	0.53458	0.459000	0.35465	TCC	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000104062.2		-	ENST00000360228.5	Missense_Mutation	SNP	19 : 13370400 - 13370400 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	73	15
MOG	4340	broad.mit.edu	37	6	29635428	29635428	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29635428C>T	ENST00000376894.4	+	4	677	c.559C>T	c.(559-561)Cga>Tga	p.R187*	MOG_ENST00000396701.2_Nonsense_Mutation_p.R187*|MOG_ENST00000431798.2_Nonsense_Mutation_p.R187*|MOG_ENST00000396704.3_Nonsense_Mutation_p.R187*|MOG_ENST00000376891.4_Nonsense_Mutation_p.R187*|MOG_ENST00000494692.1_Nonsense_Mutation_p.R187*|MOG_ENST00000376917.3_Nonsense_Mutation_p.R187*|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000416766.2_Nonsense_Mutation_p.R149*|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000376888.2_Nonsense_Mutation_p.R71*|MOG_ENST00000490427.1_Nonsense_Mutation_p.R71*|MOG_ENST00000376898.3_Nonsense_Mutation_p.R187*|MOG_ENST00000483013.1_Nonsense_Mutation_p.R71*			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	187					cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						AGGAAAACTTCGAGCAGAGAT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													186	179	181			NA	NA	6		NA											NA				29635428		2203	4300	6503	SO:0001587	stop_gained				CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655	4340	4340		Immunoglobulin superfamily / V-set domain containing, Butyrophilins	7197	protein-coding gene	gene with protein product		159465			NA		Standard	NM_002433	NM_002433	NA	Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376894.4:c.559C>T	6.37:g.29635428C>T	ENSP00000366091:p.Arg187*	NA	A6NDR4|A8MY31|B0UZR9|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q5JNY1|Q5JNY4|Q5SSB5|Q5SSB6|Q5STM0|Q5STM5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	37		.	.	.	.	.	.	.	.	.	.	C	19.94	3.920335	0.73098	.	.	ENSG00000204655	ENST00000376917;ENST00000376888;ENST00000376894;ENST00000483013;ENST00000490427;ENST00000416766;ENST00000376891;ENST00000376898;ENST00000431798;ENST00000396701;ENST00000494692;ENST00000396704	.	.	.	5.09	2.36	0.29203	.	0.343745	0.21435	N	0.074597	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4759	0.16695	0.0:0.6592:0.1633:0.1775	.	.	.	.	X	187;71;187;71;71;149;187;187;187;187;187;187	.	ENSP00000366085:R71X	R	+	1	2	MOG	29743407	0.022000	0.18835	0.326000	0.25389	0.956000	0.61745	0.731000	0.26058	0.412000	0.25729	0.655000	0.94253	CGA	MOG-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000194941.1		+	ENST00000376894.4	Nonsense_Mutation	SNP	6 : 29635428 - 29635428 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	490	43
EIF3K	27335	broad.mit.edu	37	19	39116677	39116677	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39116677C>T	ENST00000538434.1	+	3	263	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	EIF3K_ENST00000588934.1_Missense_Mutation_p.R97W|EIF3K_ENST00000248342.4_Missense_Mutation_p.R97W|EIF3K_ENST00000545173.2_Missense_Mutation_p.R97W|EIF3K_ENST00000592558.1_Missense_Mutation_p.R97W|EIF3K_ENST00000593149.1_Missense_Mutation_p.R10W|EIF3K_ENST00000593062.1_3'UTR			Q9UBQ5	EIF3K_HUMAN	eukaryotic translation initiation factor 3, subunit K	97					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex|nucleus	protein binding|ribosome binding|translation initiation factor activity		EIF3K/CYP39A1(2)	central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCAAGAAGAACGGCCAATCCG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	118	123			NA	NA	19		NA											NA				39116677		2203	4300	6503	SO:0001583	missense			AB019392	CCDS12517.1, CCDS74360.1	19q13.2	2012-05-28	2007-07-27	2007-07-27	ENSG00000178982	ENSG00000178982	27335	27335			24656	protein-coding gene	gene with protein product		609596	eukaryotic translation initiation factor 3, subunit 12	EIF3S12	NA	11042152, 14519125	Standard	NM_013234	XM_006723147	NA	Approved	eIF3k, PRO1474, HSPC029, PTD001, PLAC-24, M9, ARG134	uc002oiz.1	Q9UBQ5		ENST00000538434.1:c.28C>T	19.37:g.39116677C>T	ENSP00000440999:p.Arg10Trp	NA	A8K0I9|Q96IQ0|Q9Y6D1	37		.	.	.	.	.	.	.	.	.	.	C	9.506	1.104402	0.20632	.	.	ENSG00000178982	ENST00000248342;ENST00000538434;ENST00000545173	.	.	.	4.29	1.93	0.25924	Translation initiation factor 3, subunit 12, N-terminal, eukaryotic (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.43211	0.1237	N	0.22421	0.69	0.50467	D	0.999876	B;B;B	0.14805	0.011;0.003;0.006	B;B;B	0.13407	0.003;0.009;0.009	T	0.41124	-0.9526	9	0.87932	D	0	-25.1521	13.4671	0.61260	0.3402:0.6598:0.0:0.0	.	10;97;97	B4DQ48;B7ZAM9;Q9UBQ5	.;.;EIF3K_HUMAN	W	97;10;97	.	ENSP00000248342:R97W	R	+	1	2	EIF3K	43808517	1.000000	0.71417	0.996000	0.52242	0.461000	0.32589	1.898000	0.39809	0.521000	0.28445	-1.357000	0.01221	CGG	EIF3K-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000453409.1		+	ENST00000538434.1	Missense_Mutation	SNP	19 : 39116677 - 39116677 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	871	148
ZNF561	93134	broad.mit.edu	37	19	9721015	9721015	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9721015C>T	ENST00000424629.1	-	5	1405	c.1115G>A	c.(1114-1116)cGa>cAa	p.R372Q	ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000302851.3_Missense_Mutation_p.R441Q|ZNF561_ENST00000354661.4_Missense_Mutation_p.R305Q			Q8N587	ZN561_HUMAN	zinc finger protein 561	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						GGTATGAGTTCGCAGGTGAAC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	146	148			NA	NA	19		NA											NA				9721015		2203	4300	6503	SO:0001583	missense			AK074787	CCDS12216.2	19p13.2	2013-09-20			ENSG00000171469	ENSG00000171469	93134	93134		Zinc fingers, C2H2-type, -	28684	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152289	NM_152289	NA	Approved	MGC45408	uc002mlu.3	Q8N587	OTTHUMG00000157054	ENST00000424629.1:c.1115G>A	19.37:g.9721015C>T	ENSP00000393074:p.Arg372Gln	NA	Q6PJS0	37		.	.	.	.	.	.	.	.	.	.	C	11.28	1.592903	0.28357	.	.	ENSG00000171469	ENST00000424629;ENST00000302851;ENST00000354661	T;T;T	0.02369	4.32;4.32;4.32	1.1	1.1	0.20463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10035	0.0246	M	0.63428	1.95	0.09310	N	1	D	0.89917	1.0	D	0.71656	0.974	T	0.11665	-1.0578	9	0.66056	D	0.02	.	8.1044	0.30877	0.0:1.0:0.0:0.0	.	441	Q8N587	ZN561_HUMAN	Q	372;441;305	ENSP00000393074:R372Q;ENSP00000303915:R441Q;ENSP00000346687:R305Q	ENSP00000303915:R441Q	R	-	2	0	ZNF561	9582015	0.000000	0.05858	0.001000	0.08648	0.171000	0.22731	-0.801000	0.04550	0.905000	0.36596	0.298000	0.19748	CGA	ZNF561-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000347358.1		-	ENST00000424629.1	Missense_Mutation	SNP	19 : 9721015 - 9721015 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	993	159
PLCG2	5336	broad.mit.edu	37	16	81972512	81972512	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81972512C>T	ENST00000359376.3	+	29	3519	c.3305C>T	c.(3304-3306)aCg>aTg	p.T1102M		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1102	C2.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TTCAAGACGACGGTTGTGAGT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	108	110			NA	NA	16		NA											NA				81972512		1955	4160	6115	SO:0001583	missense				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	5336	5336	3.1.4.11	SH2 domain containing	9066	protein-coding gene	gene with protein product		600220			NA	7835906	Standard		XR_248240	NA	Approved		uc002fgt.3	P16885		ENST00000359376.3:c.3305C>T	16.37:g.81972512C>T	ENSP00000352336:p.Thr1102Met	NA	D3DUL3|Q3ZTS2|Q59H45|Q969T5	37	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.282341	0.23392	.	.	ENSG00000197943	ENST00000359376	T	0.69806	-0.43	5.39	5.39	0.77823	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.309400	0.38959	N	0.001501	T	0.63522	0.2518	M	0.75447	2.3	0.09310	N	0.999994	P	0.34934	0.476	B	0.27887	0.084	T	0.64795	-0.6323	10	0.59425	D	0.04	.	12.4855	0.55871	0.0:0.9236:0.0:0.0764	.	1102	P16885	PLCG2_HUMAN	M	1102	ENSP00000352336:T1102M	ENSP00000352336:T1102M	T	+	2	0	PLCG2	80530013	0.233000	0.23772	0.582000	0.28627	0.660000	0.38997	1.732000	0.38146	2.517000	0.84864	0.561000	0.74099	ACG	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432429.1		+	ENST00000359376.3	Missense_Mutation	SNP	16 : 81972512 - 81972512 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	113	19
ZNF606	80095	broad.mit.edu	37	19	58490962	58490962	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58490962A>G	ENST00000341164.4	-	7	1706	c.1086T>C	c.(1084-1086)caT>caC	p.H362H	ZNF606_ENST00000536132.1_Silent_p.H272H	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CAATTTTTTGATGTTCCATAA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	93	97			NA	NA	19		NA											NA				58490962		2203	4300	6503	SO:0001819	synonymous_variant			AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704	80095	80095		Zinc fingers, C2H2-type, -	25879	protein-coding gene	gene with protein product		613905		ZNF328	NA	11347906	Standard	NM_025027	XM_005259276	NA	Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1086T>C	19.37:g.58490962A>G		NA	A8KAN2|Q8NE04|Q96JH5	37	CCDS12968.1																																																																																			ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405961.1		-	ENST00000341164.4	Silent	SNP	19 : 58490962 - 58490962 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	536	115
TRPV3	162514	broad.mit.edu	37	17	3435984	3435984	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3435984C>T	ENST00000301365.4	-	8	1163	c.1032G>A	c.(1030-1032)ccG>ccA	p.P344P	TRPV3_ENST00000576742.1_Silent_p.P344P|TRPV3_ENST00000572519.1_Silent_p.P344P			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	344						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	CCAGCTGCAGCGGCGTGAGGC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	63	69			NA	NA	17		NA											NA				3435984		2203	4300	6503	SO:0001819	synonymous_variant			AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723	162514	162514		Voltage-gated ion channels / Transient receptor potential cation channels, Ankyrin repeat domain containing	18084	protein-coding gene	gene with protein product		607066			NA	12016205, 12077606, 16382100	Standard	NM_145068	NM_001258205	NA	Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000301365.4:c.1032G>A	17.37:g.3435984C>T		NA	Q8NDW7|Q8NET9|Q8NFH2	37	CCDS58500.1																																																																																			TRPV3-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438245.1		-	ENST00000301365.4	Silent	SNP	17 : 3435984 - 3435984 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	264	41
ELOVL6	79071	broad.mit.edu	37	4	110972708	110972708	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110972708G>A	ENST00000394607.3	-	5	747	c.584C>T	c.(583-585)gCc>gTc	p.A195V	ELOVL6_ENST00000302274.3_Missense_Mutation_p.A195V			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	195					fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		GATGAACATGGCAAACTTCCG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	75	79			NA	NA	4		NA											NA				110972708		2203	4300	6503	SO:0001583	missense			AK027031	CCDS3690.1	4q25	2011-05-25	2011-05-25		ENSG00000170522	ENSG00000170522	79071	79071			15829	protein-coding gene	gene with protein product		611546	ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)		NA	11567032	Standard	NM_024090	NM_024090	NA	Approved	FLJ23378, MGC5487, LCE	uc003hzz.3	Q9H5J4	OTTHUMG00000132547	ENST00000394607.3:c.584C>T	4.37:g.110972708G>A	ENSP00000378105:p.Ala195Val	NA	Q4W5L0|Q8NCD1	37	CCDS3690.1	.	.	.	.	.	.	.	.	.	.	G	31	5.083593	0.94050	.	.	ENSG00000170522	ENST00000394607;ENST00000302274	T;T	0.24538	1.85;1.85	5.97	5.13	0.70059	.	0.146407	0.64402	N	0.000007	T	0.58652	0.2137	M	0.91038	3.17	0.80722	D	1	D	0.59357	0.985	D	0.68943	0.961	T	0.67669	-0.5611	10	0.49607	T	0.09	-18.8957	15.3016	0.73955	0.0671:0.0:0.9329:0.0	.	195	Q9H5J4	ELOV6_HUMAN	V	195	ENSP00000378105:A195V;ENSP00000304736:A195V	ENSP00000304736:A195V	A	-	2	0	ELOVL6	111192157	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.807000	0.99171	1.532000	0.49169	0.655000	0.94253	GCC	ELOVL6-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255748.1		-	ENST00000394607.3	Missense_Mutation	SNP	4 : 110972708 - 110972708 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	333	63
DNAH1	25981	broad.mit.edu	37	3	52429072	52429072	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52429072C>T	ENST00000420323.2	+	68	11226	c.10965C>T	c.(10963-10965)ccC>ccT	p.P3655P		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3720					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCATTGAACCCCAGGCAAGTG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	31	30			NA	NA	3		NA											NA				52429072		2042	4185	6227	SO:0001819	synonymous_variant			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841	25981	25981		Axonemal dyneins	2940	protein-coding gene	gene with protein product		603332	dynein, axonemal, heavy polypeptide 1		NA	8812413, 9256245	Standard	NM_015512	NM_015512	NA	Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.10965C>T	3.37:g.52429072C>T		NA	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	37	CCDS46842.1																																																																																			DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350816.1		+	ENST00000420323.2	Silent	SNP	3 : 52429072 - 52429072 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	66	8
AKNA	80709	broad.mit.edu	37	9	117120303	117120303	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117120303G>A	ENST00000307564.4	-	12	2798	c.2637C>T	c.(2635-2637)tcC>tcT	p.S879S	AKNA_ENST00000374075.5_Silent_p.S798S|AKNA_ENST00000374088.3_Silent_p.S879S|AKNA_ENST00000223791.3_Silent_p.S339S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	879					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GGGATGCTGCGGACTTGGTGC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	64	64			NA	NA	9		NA											NA				117120303		2203	4300	6503	SO:0001819	synonymous_variant			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948	80709	80709			24108	protein-coding gene	gene with protein product		605729			NA	11268217, 11853319	Standard	NM_030767	NM_030767	NA	Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.2637C>T	9.37:g.117120303G>A		NA	Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	37	CCDS6805.1																																																																																			AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053767.2		-	ENST00000307564.4	Silent	SNP	9 : 117120303 - 117120303 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	441	66
OR1L6	392390	broad.mit.edu	37	9	125512172	125512172	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125512172C>A	ENST00000304720.2	+	1	46	c.46C>A	c.(46-48)Ctg>Atg	p.L16M	OR1L6_ENST00000373684.1_Missense_Mutation_p.L52M	NM_001004453.2	NP_001004453.2	Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						CTTCATCCTCCTGGGCCTCTC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													184	173	176			NA	NA	9		NA											NA				125512172		2203	4300	6503	SO:0001583	missense				CCDS35130.1, CCDS35130.2	9q33.2	2013-09-20			ENSG00000171459	ENSG00000171459	392390	392390		GPCR / Class A : Olfactory receptors	8218	protein-coding gene	gene with protein product				OR1L7	NA		Standard		NM_001004453	NA	Approved		uc022bna.1	Q8NGR2	OTTHUMG00000020621	ENST00000304720.2:c.46C>A	9.37:g.125512172C>A	ENSP00000304235:p.Leu16Met	NA	Q6IFM8|Q96R80	37	CCDS35130.2	.	.	.	.	.	.	.	.	.	.	.	13.22	2.171199	0.38315	.	.	ENSG00000171459	ENST00000373684;ENST00000304720	T;T	0.00637	6.05;6.05	4.55	3.65	0.41850	.	0.000000	0.39475	N	0.001356	T	0.02012	0.0063	L	0.46947	1.48	0.28760	N	0.900933	D	0.76494	0.999	D	0.85130	0.997	T	0.31336	-0.9947	10	0.56958	D	0.05	-10.2205	10.6813	0.45815	0.0:0.9051:0.0:0.0949	.	52	Q8NGR2	OR1L6_HUMAN	M	52;16	ENSP00000362788:L52M;ENSP00000304235:L16M	ENSP00000304235:L16M	L	+	1	2	OR1L6	124551993	0.000000	0.05858	0.994000	0.49952	0.500000	0.33767	-0.367000	0.07553	1.267000	0.44247	-0.140000	0.14226	CTG	OR1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053952.3		+	ENST00000304720.2	Missense_Mutation	SNP	9 : 125512172 - 125512172 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1003	42
ARRDC5	645432	broad.mit.edu	37	19	4896836	4896836	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4896836A>G	ENST00000381781.2	-	2	347	c.348T>C	c.(346-348)ccT>ccC	p.P116P		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	116					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		GAAGCCTGGGAGGTAAGTTGA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	152	153			NA	NA	19		NA											NA				4896836		1936	4140	6076	SO:0001819	synonymous_variant				CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784	645432	645432			31407	protein-coding gene	gene with protein product					NA	12886014	Standard	XM_292803	NM_001080523	NA	Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.348T>C	19.37:g.4896836A>G		NA		37	CCDS45929.1																																																																																			ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450443.1		-	ENST00000381781.2	Silent	SNP	19 : 4896836 - 4896836 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	505	77
KLHL36	79786	broad.mit.edu	37	16	84691332	84691332	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84691332C>T	ENST00000564996.1	+	3	1060	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W	KLHL36_ENST00000258157.5_Missense_Mutation_p.R307W	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	307										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GGTCTCCGAGCGGTGTCTGGA	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	21	20			NA	NA	16		NA											NA				84691332		2197	4298	6495	SO:0001583	missense			AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686	79786	79786		Kelch-like, BTB/POZ domain containing	17844	protein-coding gene	gene with protein product			chromosome 16 open reading frame 44, kelch-like 36 (Drosophila)	C16orf44	NA		Standard		NM_024731	NA	Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.919C>T	16.37:g.84691332C>T	ENSP00000456743:p.Arg307Trp	NA	Q8N5G6|Q9H9U6	37	CCDS10948.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840363	0.71488	.	.	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.67698	-0.28	5.15	4.2	0.49525	Kelch-type beta propeller (1);	0.122178	0.56097	D	0.000030	T	0.73745	0.3626	M	0.62723	1.935	0.52099	D	0.999941	D;D	0.67145	0.996;0.983	P;P	0.53954	0.738;0.588	T	0.77760	-0.2467	10	0.87932	D	0	.	14.9005	0.70675	0.0:0.8562:0.1438:0.0	.	307;307	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	W	307	ENSP00000258157:R307W	ENSP00000258157:R307W	R	+	1	2	KLHL36	83248833	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.730000	0.62015	1.163000	0.42636	-0.257000	0.10917	CGG	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269084.2		+	ENST00000564996.1	Missense_Mutation	SNP	16 : 84691332 - 84691332 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	177	45
SLC35F3	148641	broad.mit.edu	37	1	234041356	234041356	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234041356G>T	ENST00000366618.3	+	2	280	c.135G>T	c.(133-135)gtG>gtT	p.V45V		NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	0					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			AGTACTTGGTGGTGGACGAGG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	55	54			NA	NA	1		NA											NA				234041356		2203	4300	6503	SO:0001819	synonymous_variant				CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780	148641	148641		Solute carriers	23616	protein-coding gene	gene with protein product					NA		Standard	NM_173508	XM_005273070	NA	Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366618.3:c.135G>T	1.37:g.234041356G>T		NA	Q5TDD6|Q8N9C9	37	CCDS1600.1																																																																																			SLC35F3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092579.2		+	ENST00000366618.3	Silent	SNP	1 : 234041356 - 234041356 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	520	115
POC1A	25886	broad.mit.edu	37	3	52185074	52185074	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52185074C>A	ENST00000394970.2	-	2	378	c.61G>T	c.(61-63)Gca>Tca	p.A21S	POC1A_ENST00000296484.2_Missense_Mutation_p.A21S|POC1A_ENST00000474012.1_5'UTR	NM_001161580.1	NP_001155052.1	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	21						centriole|microtubule basal body				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						CAGGTAACTGCATCTCGGTGG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	158	165			NA	NA	3		NA											NA				52185074		2203	4300	6503	SO:0001583	missense			AL117629	CCDS2846.1, CCDS54591.1, CCDS54592.1	3p21.2	2014-05-02	2013-08-21	2010-03-26	ENSG00000164087	ENSG00000164087	25886	25886		WD repeat domain containing	24488	protein-coding gene	gene with protein product		614783	WD repeat domain 51A, POC1 centriolar protein homolog A (Chlamydomonas)	WDR51A	NA	19109428, 22840364	Standard	NM_015426	NM_015426	NA	Approved	DKFZP434C245	uc003dcu.3	Q8NBT0	OTTHUMG00000157817	ENST00000394970.2:c.61G>T	3.37:g.52185074C>A	ENSP00000378421:p.Ala21Ser	NA	Q0VDF8|Q2TAK6|Q96IK6|Q9UFJ8	37	CCDS54592.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730235	0.48939	.	.	ENSG00000164087	ENST00000296484;ENST00000394970	T;T	0.59638	0.25;0.25	5.11	5.11	0.69529	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.583031	0.18731	N	0.132733	T	0.45617	0.1351	L	0.37507	1.11	0.32886	D	0.51126	B;B	0.25809	0.135;0.078	B;B	0.26310	0.067;0.068	T	0.50642	-0.8804	10	0.17369	T	0.5	.	11.7868	0.52047	0.0:0.9193:0.0:0.0807	.	21;21	Q8NBT0-2;Q8NBT0	.;POC1A_HUMAN	S	21	ENSP00000296484:A21S;ENSP00000378421:A21S	ENSP00000296484:A21S	A	-	1	0	POC1A	52160114	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.263000	0.43293	2.643000	0.89663	0.650000	0.86243	GCA	POC1A-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349686.1		-	ENST00000394970.2	Missense_Mutation	SNP	3 : 52185074 - 52185074 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	831	143
HEATR5B	54497	broad.mit.edu	37	2	37296066	37296066	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37296066A>G	ENST00000233099.5	-	8	1030	c.935T>C	c.(934-936)gTt>gCt	p.V312A	HEATR5B_ENST00000354531.2_Missense_Mutation_p.V312A	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	312							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CACAAAAACAACATACGCCTG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	55	56			NA	NA	2		NA											NA				37296066		2203	4300	6503	SO:0001583	missense			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869	54497	54497			29273	protein-coding gene	gene with protein product					NA	10718198	Standard	NM_019024	XM_005264379	NA	Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.935T>C	2.37:g.37296066A>G	ENSP00000233099:p.Val312Ala	NA	B5MDU8|Q7Z3B2|Q9NVL7	37	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.370946	0.82573	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	T;T	0.07800	3.16;3.16	5.66	5.66	0.87406	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.28067	0.0692	M	0.72624	2.21	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.00731	-1.1590	10	0.34782	T	0.22	-25.8704	16.1819	0.81915	1.0:0.0:0.0:0.0	.	312	Q9P2D3	HTR5B_HUMAN	A	312	ENSP00000233099:V312A;ENSP00000346531:V312A	ENSP00000233099:V312A	V	-	2	0	HEATR5B	37149570	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	9.182000	0.94881	2.279000	0.76181	0.533000	0.62120	GTT	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325492.1		-	ENST00000233099.5	Missense_Mutation	SNP	2 : 37296066 - 37296066 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	211	58
CKB	1152	broad.mit.edu	37	14	103988793	103988793	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103988793C>T	ENST00000348956.2	-	2	395	c.38G>A	c.(37-39)cGc>cAc	p.R13H		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	13	Phosphagen kinase N-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	GGCCGGGAAGCGCAGCTTCAG	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(186;2492 2823 49929 50127)							NA				0													59	53	55			NA	NA	14		NA											NA				103988793		2202	4300	6502	SO:0001583	missense				CCDS9981.1	14q32.32	2012-10-02			ENSG00000166165	ENSG00000166165	1152	1152	2.7.3.2		1991	protein-coding gene	gene with protein product		123280		CKBB	NA		Standard		NM_001823	NA	Approved		uc001ynf.2	P12277	OTTHUMG00000171786	ENST00000348956.2:c.38G>A	14.37:g.103988793C>T	ENSP00000299198:p.Arg13His	NA	A8K236|B2R5R4|Q2LE07|Q6FG40|Q9UC66	37	CCDS9981.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.524213	0.44866	.	.	ENSG00000166165	ENST00000348956;ENST00000428256;ENST00000553878	T;T	0.63580	-0.05;-0.05	4.17	3.28	0.37604	ATP:guanido phosphotransferase, N-terminal (3);	0.201519	0.39687	N	0.001298	T	0.50820	0.1638	L	0.50333	1.59	0.32913	D	0.514826	B	0.02656	0.0	B	0.01281	0.0	T	0.57579	-0.7787	10	0.72032	D	0.01	0.7127	5.0339	0.14424	0.0:0.6137:0.0:0.3863	.	13	P12277	KCRB_HUMAN	H	13	ENSP00000299198:R13H;ENSP00000451904:R13H	ENSP00000299198:R13H	R	-	2	0	CKB	103058546	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.145000	0.42207	1.001000	0.39076	0.297000	0.19635	CGC	CKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415111.1		-	ENST00000348956.2	Missense_Mutation	SNP	14 : 103988793 - 103988793 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	197	39
NCOR2	9612	broad.mit.edu	37	12	124856630	124856630	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124856630G>A	ENST00000405201.1	-	20	2745	c.2745C>T	c.(2743-2745)agC>agT	p.S915S	NCOR2_ENST00000356219.3_Silent_p.S915S|NCOR2_ENST00000404121.2_Silent_p.S468S|NCOR2_ENST00000429285.2_Silent_p.S897S|NCOR2_ENST00000404621.1_Silent_p.S897S|NCOR2_ENST00000397355.1_Silent_p.S898S			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	915					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CACTGGAGTCGCTGTCCTGGG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	42	39			NA	NA	12		NA											NA				124856630		2122	4220	6342	SO:0001819	synonymous_variant			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498	9612	9612			7673	protein-coding gene	gene with protein product		600848	nuclear receptor co-repressor 2		NA	7566127, 8813722	Standard	NM_006312	NM_001077261	NA	Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.2745C>T	12.37:g.124856630G>A		NA	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	37	CCDS41858.2																																																																																			NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318173.2		-	ENST00000405201.1	Silent	SNP	12 : 124856630 - 124856630 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	489	97
RHOBTB3	22836	broad.mit.edu	37	5	95091253	95091253	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95091253A>C	ENST00000379982.3	+	6	1344	c.836A>C	c.(835-837)cAt>cCt	p.H279P	GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	279	BTB 1.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		GCTGTAAGCCATGTTTTCATG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	129	134			NA	NA	5		NA											NA				95091253		2203	4300	6503	SO:0001583	missense			AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292	22836	22836		BTB/POZ domain containing	18757	protein-coding gene	gene with protein product		607353			NA	11222756, 17035353	Standard	NM_014899	NM_014899	NA	Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.836A>C	5.37:g.95091253A>C	ENSP00000369318:p.His279Pro	NA	A0PJA4|A8K1W9|Q8IW06	37	CCDS4077.1	.	.	.	.	.	.	.	.	.	.	A	14.69	2.609307	0.46527	.	.	ENSG00000164292	ENST00000379982	T	0.66638	-0.22	6.08	6.08	0.98989	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (1);	0.214991	0.49916	D	0.000126	T	0.48259	0.1490	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41520	-0.9504	10	0.27082	T	0.32	-25.0285	16.3126	0.82898	1.0:0.0:0.0:0.0	.	279	O94955	RHBT3_HUMAN	P	279	ENSP00000369318:H279P	ENSP00000369318:H279P	H	+	2	0	RHOBTB3	95117009	0.996000	0.38824	0.984000	0.44739	0.995000	0.86356	3.624000	0.54231	2.333000	0.79357	0.482000	0.46254	CAT	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000241658.1		+	ENST00000379982.3	Missense_Mutation	SNP	5 : 95091253 - 95091253 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	547	111
PCDHGB1	56104	broad.mit.edu	37	5	140731024	140731024	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140731024G>A	ENST00000523390.1	+	1	1197	c.1197G>A	c.(1195-1197)aaG>aaA	p.K399K	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1			protocadherin gamma subfamily B, 1	NA										central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTATTACAAGCTGGTGATTG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	59	58			NA	NA	5		NA											NA				140731024		1976	4159	6135	SO:0001819	synonymous_variant			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221	56104	56104		Cadherins / Protocadherins : Clustered	8708	other	protocadherin	protocadherin gamma subfamily B, 1, isoform 2	606299			NA	10380929	Standard	NM_018922	NM_018922	NA	Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1197G>A	5.37:g.140731024G>A		NA		37	CCDS54923.1																																																																																			PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374740.1		+	ENST00000523390.1	Silent	SNP	5 : 140731024 - 140731024 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	141	28
C1orf101	257044	broad.mit.edu	37	1	244724424	244724424	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:244724424G>A	ENST00000366534.4	+	10	1538	c.1484G>A	c.(1483-1485)aGc>aAc	p.S495N	C1orf101_ENST00000366531.3_Missense_Mutation_p.S344N|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Missense_Mutation_p.S495N	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	495						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TCAAATGACAGCATTATTCAT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	83	83			NA	NA	1		NA											NA				244724424		2203	4300	6503	SO:0001583	missense			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397	257044	257044			28491	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_173807	NM_173807	NA	Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.1484G>A	1.37:g.244724424G>A	ENSP00000355492:p.Ser495Asn	NA	B7Z7X5|Q8IYZ6	37	CCDS44340.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478964	0.63849	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	4.95	4.02	0.46733	.	0.284401	0.30732	N	0.008986	T	0.37265	0.0997	L	0.59436	1.845	0.21652	N	0.999608	D;D;D;D	0.76494	0.999;0.996;0.999;0.965	D;D;D;P	0.74023	0.982;0.923;0.951;0.832	T	0.06006	-1.0851	10	0.59425	D	0.04	.	8.5598	0.33503	0.1052:0.0:0.8948:0.0	.	415;495;495;344	B1AQM6;Q5SY80;Q5SY80-2;B4DZR4	.;CA101_HUMAN;.;.	N	495;495;495;415;344	ENSP00000355492:S495N;ENSP00000355491:S495N;ENSP00000395796:S415N;ENSP00000355489:S344N	ENSP00000355489:S344N	S	+	2	0	C1orf101	242791047	0.970000	0.33590	0.629000	0.29254	0.201000	0.24016	3.323000	0.52014	2.439000	0.82584	0.563000	0.77884	AGC	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096701.1		+	ENST00000366534.4	Missense_Mutation	SNP	1 : 244724424 - 244724424 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	500	126
GPKOW	27238	broad.mit.edu	37	X	48973491	48973491	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48973491A>C	ENST00000156109.5	-	6	884	c.806T>G	c.(805-807)gTt>gGt	p.V269G		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	269						nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CATGGCCCGAACATTGTCAGG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	82	90			NA	NA	X		NA											NA				48973491		2203	4300	6503	SO:0001583	missense			U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394	27238	27238		G patch domain containing	30677	protein-coding gene	gene with protein product	G patch domain containing 5				NA	21880142, 22365833	Standard	NM_015698	NM_015698	NA	Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.806T>G	X.37:g.48973491A>C	ENSP00000156109:p.Val269Gly	NA	Q59EK5|Q9BQA8	37	CCDS35251.1	.	.	.	.	.	.	.	.	.	.	A	8.494	0.862683	0.17178	.	.	ENSG00000068394	ENST00000156109	.	.	.	5.25	-0.978	0.10279	KOW (1);	0.400861	0.27181	N	0.020549	T	0.10035	0.0246	N	0.00729	-1.24	0.22552	N	0.998993	B	0.10296	0.003	B	0.14023	0.01	T	0.35176	-0.9799	9	0.22109	T	0.4	-3.7939	10.7501	0.46205	0.3003:0.0:0.6997:0.0	.	269	Q92917	GPKOW_HUMAN	G	269	.	ENSP00000156109:V269G	V	-	2	0	GPKOW	48860435	0.046000	0.20272	0.004000	0.12327	0.988000	0.76386	0.474000	0.22148	-0.121000	0.11787	0.483000	0.47432	GTT	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056535.2		-	ENST00000156109.5	Missense_Mutation	SNP	X : 48973491 - 48973491 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	236	66
TRHDE	29953	broad.mit.edu	37	12	72667284	72667284	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72667284G>T	ENST00000261180.4	+	1	822	c.726G>T	c.(724-726)gaG>gaT	p.E242D	TRHDE-AS1_ENST00000426250.3_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	242					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CGCTCATCGAGAATGAGCTCC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	55	54			NA	NA	12		NA											NA				72667284		2202	4299	6501	SO:0001583	missense			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	29953	29953	3.4.19.6		30748	protein-coding gene	gene with protein product	pyroglutamyl-peptidase II, pyroglutamyl aminopeptidase II, TRH-specific aminopeptidase	606950			NA	10491199, 12975309	Standard	NM_013381	NM_013381	NA	Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.726G>T	12.37:g.72667284G>T	ENSP00000261180:p.Glu242Asp	NA	A5PL19|Q6UWJ4	37	CCDS9004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.57|11.57	1.677174|1.677174	0.29783|0.29783	.|.	.|.	ENSG00000072657|ENSG00000072657	ENST00000261180|ENST00000547300	T|.	0.04083|.	3.71|.	5.23|5.23	3.32|3.32	0.38043|0.38043	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.41373|.	0.1156|.	N|N	0.16037|0.16037	0.36|0.36	0.42043|0.42043	D|D	0.991086|0.991086	D|.	0.59357|.	0.985|.	P|.	0.54590|.	0.756|.	T|.	0.36335|.	-0.9752|.	10|.	0.27082|0.52906	T|T	0.32|0.07	.|.	10.4009|10.4009	0.44229|0.44229	0.1363:0.0:0.8637:0.0|0.1363:0.0:0.8637:0.0	.|.	242|.	Q9UKU6|.	TRHDE_HUMAN|.	D|X	242|8	ENSP00000261180:E242D|.	ENSP00000261180:E242D|ENSP00000447822:E8X	E|E	+|+	3|1	2|0	TRHDE|TRHDE	70953551|70953551	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.157000|0.157000	0.22087|0.22087	3.867000|3.867000	0.56047|0.56047	0.526000|0.526000	0.28541|0.28541	0.609000|0.609000	0.83330|0.83330	GAG|GAA	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405380.1		+	ENST00000261180.4	Missense_Mutation	SNP	12 : 72667284 - 72667284 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	523	18
KCNJ14	3770	broad.mit.edu	37	19	48965230	48965230	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48965230C>T	ENST00000391884.1	+	1	725	c.249C>T	c.(247-249)gaC>gaT	p.D83D	KCNJ14_ENST00000342291.2_Silent_p.D83D			Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	83						voltage-gated potassium channel complex	inward rectifier potassium channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		CATGCGTGGACGTGCGCTGGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(148;170 3504 35216)							NA				0													75	42	53			NA	NA	19		NA											NA				48965230		2203	4300	6503	SO:0001819	synonymous_variant			BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324	3770	3770		Potassium channels, Voltage-gated ion channels / Potassium channels, Inwardly rectifying	6260	protein-coding gene	gene with protein product		603953			NA	9592090, 10723734, 16382105	Standard	NM_013348	NM_013348	NA	Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.249C>T	19.37:g.48965230C>T		NA		37	CCDS12721.1																																																																																			KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466127.1		+	ENST00000391884.1	Silent	SNP	19 : 48965230 - 48965230 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	174	32
CDAN1	146059	broad.mit.edu	37	15	43024010	43024010	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43024010G>A	ENST00000356231.3	-	11	1570	c.1547C>T	c.(1546-1548)cCt>cTt	p.P516L		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	516						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		AGCACCACCAGGGCTCTGACA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	36	35			NA	NA	15		NA											NA				43024010		2203	4299	6502	SO:0001583	missense			AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326	146059	146059			1713	protein-coding gene	gene with protein product		607465	congenital dyserythropoietic anemia, type I		NA	8634422, 12434312	Standard	XM_085300	XM_005254177	NA	Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.1547C>T	15.37:g.43024010G>A	ENSP00000348564:p.Pro516Leu	NA	Q6NYD0|Q7Z7L5|Q969N3	37	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	g	19.04	3.749927	0.69533	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.87571	-2.27	5.97	3.08	0.35506	.	0.100299	0.64402	N	0.000001	D	0.90463	0.7013	L	0.57536	1.79	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.88797	0.3282	10	0.72032	D	0.01	-3.2241	8.6882	0.34251	0.1292:0.0:0.746:0.1248	.	516	Q8IWY9	CDAN1_HUMAN	L	516;514	ENSP00000348564:P516L	ENSP00000267892:P514L	P	-	2	0	CDAN1	40811302	1.000000	0.71417	0.949000	0.38748	0.659000	0.38960	6.110000	0.71535	0.417000	0.25871	-0.141000	0.14075	CCT	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000431103.1		-	ENST00000356231.3	Missense_Mutation	SNP	15 : 43024010 - 43024010 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	353	70
IQCK	124152	broad.mit.edu	37	16	19838353	19838353	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19838353C>T	ENST00000320394.6	+	9	1395	c.696C>T	c.(694-696)cgC>cgT	p.R232R	IQCK_ENST00000541926.1_Missense_Mutation_p.A204V|IQCK_ENST00000564186.1_Silent_p.R232R|IQCK_ENST00000433597.2_Silent_p.R144R|IQCK_ENST00000562762.1_3'UTR	NM_153208.1	NP_694940.1	Q8N0W5	IQCK_HUMAN	IQ motif containing K	232										kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						TCCAGGTTCGCTGTGATCCTG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	116	118			NA	NA	16		NA											NA				19838353		2197	4300	6497	SO:0001819	synonymous_variant			AF520569	CCDS10580.1	16p12.3	2008-02-05			ENSG00000174628	ENSG00000174628	124152	124152			28556	protein-coding gene	gene with protein product					NA	10493829	Standard	NM_153208	NM_153208	NA	Approved	MGC35048, FLJ36575	uc002dgr.3	Q8N0W5	OTTHUMG00000131453	ENST00000320394.6:c.696C>T	16.37:g.19838353C>T		NA	B2RDU0|O43327|Q8NFF4	37	CCDS10580.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.554189	0.45487	.	.	ENSG00000174628	ENST00000541926	.	.	.	5.73	2.24	0.28232	.	.	.	.	.	T	0.33381	0.0861	.	.	.	0.80722	D	1	P	0.35628	0.513	B	0.34093	0.175	T	0.06935	-1.0799	6	.	.	.	-17.3005	3.5784	0.07943	0.0:0.4875:0.2148:0.2977	.	204	B4DXE1	.	V	204	.	.	A	+	2	0	IQCK	19745854	1.000000	0.71417	0.998000	0.56505	0.526000	0.34562	0.930000	0.28858	0.867000	0.35654	0.655000	0.94253	GCT	IQCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254273.2		+	ENST00000320394.6	Silent	SNP	16 : 19838353 - 19838353 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	550	98
CDH22	64405	broad.mit.edu	37	20	44815474	44815474	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44815474C>T	ENST00000372262.3	-	8	1936	c.1536G>A	c.(1534-1536)aaG>aaA	p.K512K	CDH22_ENST00000537909.1_Silent_p.K512K	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	512	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CCTGGCCTGGCTTGGCATCCT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	133	138			NA	NA	20		NA											NA				44815474		2203	4300	6503	SO:0001819	synonymous_variant			AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654	64405	64405		Cadherins / Major cadherins	13251	protein-coding gene	gene with protein product		609920	cadherin-like 22	C20orf25	NA	8626716	Standard	NM_021248	NM_021248	NA	Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1536G>A	20.37:g.44815474C>T		NA	B9EGK7|O43205	37	CCDS13395.1																																																																																			CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080491.1		-	ENST00000372262.3	Silent	SNP	20 : 44815474 - 44815474 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	747	34
KIAA1549	57670	broad.mit.edu	37	7	138591671	138591671	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138591671C>T	ENST00000440172.1	-	6	3502	c.3454G>A	c.(3454-3456)Gca>Aca	p.A1152T	KIAA1549_ENST00000242365.4_Missense_Mutation_p.A1102T|KIAA1549_ENST00000422774.1_Missense_Mutation_p.A1152T	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1152						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TCACGCTCTGCGATCTGCAGC	0.473		NA	O	BRAF	pilocytic astrocytoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(119;1534 1718 44213 46230 50068)		Dom	yes		7	7q34	57670	KIAA1549		O	0													72	72	72			NA	NA	7		NA											NA				138591671		2003	4162	6165	SO:0001583	missense				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778	57670	57670			22219	protein-coding gene	gene with protein product		613344			NA		Standard		NM_020910	NA	Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000440172.1:c.3454G>A	7.37:g.138591671C>T	ENSP00000406661:p.Ala1152Thr	NA	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	37	CCDS47723.2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309989	0.81247	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.69561	-0.4;-0.38;-0.41	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.82999	0.5159	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.85152	0.0987	10	0.87932	D	0	.	17.8527	0.88752	0.0:1.0:0.0:0.0	.	1152;1152	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	T	1152;1102;1152	ENSP00000406661:A1152T;ENSP00000242365:A1102T;ENSP00000416040:A1152T	ENSP00000242365:A1102T	A	-	1	0	KIAA1549	138242211	1.000000	0.71417	0.785000	0.31869	0.310000	0.27922	7.291000	0.78721	2.683000	0.91414	0.655000	0.94253	GCA	KIAA1549-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347938.2		-	ENST00000440172.1	Missense_Mutation	SNP	7 : 138591671 - 138591671 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	311	49
CADM1	23705	broad.mit.edu	37	11	115088668	115088668	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:115088668G>A	ENST00000452722.3	-	6	785	c.765C>T	c.(763-765)ggC>ggT	p.G255G	CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000331581.6_Silent_p.G255G|CADM1_ENST00000536727.1_Silent_p.G255G|CADM1_ENST00000542447.2_Silent_p.G255G|CADM1_ENST00000537058.1_Silent_p.G255G	NM_014333.3	NP_055148.3	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	NA	Ig-like C2-type 2.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CCCGGGTTAAGCCTTGTAGAG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	129	137			NA	NA	11		NA											NA				115088668		2201	4296	6497	SO:0001819	synonymous_variant			AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985	23705	23705		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	5951	protein-coding gene	gene with protein product	nectin-like 2	605686	tumor suppressor in lung cancer 1, immunoglobulin superfamily, member 4	TSLC1, IGSF4	NA	10610705	Standard	NM_014333	NM_014333	NA	Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.765C>T	11.37:g.115088668G>A		NA	Q86WB8|Q8N2F4	37	CCDS8373.1	.	.	.	.	.	.	.	.	.	.	G	8.696	0.908549	0.17833	.	.	ENSG00000182985	ENST00000545380	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	T	0.70413	0.3221	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68727	-0.5332	4	.	.	.	.	14.1468	0.65355	0.0:0.1493:0.8507:0.0	.	.	.	.	F	254	.	.	L	-	1	0	CADM1	114593878	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.791000	0.47829	2.593000	0.87608	0.655000	0.94253	CTT	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398753.2		-	ENST00000452722.3	Silent	SNP	11 : 115088668 - 115088668 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	63
ABCA3	21	broad.mit.edu	37	16	2347394	2347394	+	Silent	SNP	G	G	A	rs138901284	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2347394G>A	ENST00000382381.3	-	16	2736	c.2025C>T	c.(2023-2025)atC>atT	p.I675I	ABCA3_ENST00000301732.5_Silent_p.I733I			Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	733	ABC transporter 1.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CCATGATGGCGATGCGGTCTC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4396		0,0,2198	138	102	114		2199	-11.7	0.4	16	dbSNP_134	114	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous	ABCA3	NM_001089.2		0,8,6490	AA,AG,GG	NA	0.093,0.0,0.0616		733/1705	2347394	8,12988	2198	4300	6498	SO:0001819	synonymous_variant			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972	21	21		ATP binding cassette transporters / subfamily A	33	protein-coding gene	gene with protein product		601615		ABC3	NA	8706931	Standard	NM_001089	NM_001089	NA	Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000382381.3:c.2025C>T	16.37:g.2347394G>A		NA	B2RU09|Q54A95|Q92473	37																																																																																				ABCA3-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000435440.1		-	ENST00000382381.3	Silent	SNP	16 : 2347394 - 2347394 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	618	115
MINK1	50488	broad.mit.edu	37	17	4796848	4796848	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4796848C>T	ENST00000355280.6	+	21	2716	c.2520C>T	c.(2518-2520)ggC>ggT	p.G840G	MINK1_ENST00000347992.7_Silent_p.G811G|MINK1_ENST00000453408.3_Silent_p.G820G	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	840					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						AGGAGGAAGGCGAAGGCGGGC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	57	54			NA	NA	17		NA											NA				4796848		1975	4138	6113	SO:0001819	synonymous_variant			AY775058	CCDS45588.1, CCDS45589.1, CCDS45590.1	17p13.2	2011-04-14	2010-06-24		ENSG00000141503	ENSG00000141503	50488	50488			17565	protein-coding gene	gene with protein product	misshapen/NIK-related kinase	609426	misshapen-like kinase 1 (zebrafish)		NA	10708748, 12087176	Standard	NM_015716	NM_015716	NA	Approved	B55, MINK, ZC3, MAP4K6, YSK2	uc010vsl.2	Q8N4C8		ENST00000355280.6:c.2520C>T	17.37:g.4796848C>T		NA	D3DTK3|D3DTK4|Q9P1X1|Q9P2R8	37	CCDS45588.1																																																																																			MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000439801.1		+	ENST00000355280.6	Silent	SNP	17 : 4796848 - 4796848 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	239	53
LRP1B	53353	broad.mit.edu	37	2	141986788	141986788	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141986788C>T	ENST00000389484.3	-	6	1785	c.814G>A	c.(814-816)Gat>Aat	p.D272N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	272					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCCATTCATCTGTTAATCCT	0.318		NA								TSP Lung(27;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(99;50 2074 2507 20106)							NA				0													126	126	126			NA	NA	2		NA											NA				141986788		2203	4300	6503	SO:0001583	missense			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702	53353	53353		Low density lipoprotein receptors	6693	protein-coding gene	gene with protein product	LRP-deleted in tumors	608766			NA	10766186	Standard	NM_018557	NM_018557	NA	Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.814G>A	2.37:g.141986788C>T	ENSP00000374135:p.Asp272Asn	NA	Q8WY29|Q8WY30|Q8WY31	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936743	0.73557	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90676	-2.71	5.2	4.31	0.51392	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.270481	0.30930	U	0.008597	D	0.83317	0.5228	L	0.29908	0.895	0.30447	N	0.775605	B	0.09022	0.002	B	0.06405	0.002	T	0.72676	-0.4221	10	0.13470	T	0.59	.	13.7859	0.63110	0.0:0.9233:0.0:0.0767	.	272	Q9NZR2	LRP1B_HUMAN	N	272;210	ENSP00000374135:D272N	ENSP00000374135:D272N	D	-	1	0	LRP1B	141703258	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.482000	0.45224	2.440000	0.82611	0.585000	0.79938	GAT	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254736.2		-	ENST00000389484.3	Missense_Mutation	SNP	2 : 141986788 - 141986788 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	362	12
ACE	1636	broad.mit.edu	37	17	61560026	61560026	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61560026C>A	ENST00000290866.4	+	8	1342	c.1318C>A	c.(1318-1320)Ctg>Atg	p.L440M	ACE_ENST00000538928.1_Missense_Mutation_p.L440M|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.L440M	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	440	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AATCGGCCTGCTGGACCGTGT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	69	70			NA	NA	17		NA											NA				61560026		2203	4300	6503	SO:0001583	missense			J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	1636	1636	3.4.15.1	CD molecules	2707	protein-coding gene	gene with protein product	peptidyl-dipeptidase A	106180	angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	DCP1	NA	2554286, 10319862	Standard		NM_001178057	NA	Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.1318C>A	17.37:g.61560026C>A	ENSP00000290866:p.Leu440Met	NA	B0LPF0|P22966|Q53YX9|Q59GY8|Q7M4L4	37	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800922	0.50315	.	.	ENSG00000159640	ENST00000538928;ENST00000290866;ENST00000428043	T;T;T	0.50548	0.74;0.74;0.74	4.69	4.69	0.59074	.	0.000000	0.64402	D	0.000001	T	0.77177	0.4092	M	0.93594	3.435	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.925	D;D;D	0.91635	0.999;0.999;0.94	D	0.84157	0.0426	10	0.72032	D	0.01	-20.1876	17.8129	0.88622	0.0:1.0:0.0:0.0	.	440;440;440	F5H1K1;P12821-2;P12821	.;.;ACE_HUMAN	M	440	ENSP00000439591:L440M;ENSP00000290866:L440M;ENSP00000397593:L440M	ENSP00000290866:L440M	L	+	1	2	ACE	58913758	0.998000	0.40836	0.999000	0.59377	0.056000	0.15407	3.852000	0.55934	2.434000	0.82447	0.561000	0.74099	CTG	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337675.2		+	ENST00000290866.4	Missense_Mutation	SNP	17 : 61560026 - 61560026 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	623	29
LPHN2	23266	broad.mit.edu	37	1	82302695	82302695	+	Missense_Mutation	SNP	G	G	A	rs138982442	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:82302695G>A	ENST00000370728.1	+	5	671	c.26G>A	c.(25-27)cGa>cAa	p.R9Q	LPHN2_ENST00000271029.4_Missense_Mutation_p.R9Q|LPHN2_ENST00000370713.1_Missense_Mutation_p.R9Q|LPHN2_ENST00000370727.1_Missense_Mutation_p.R9Q|LPHN2_ENST00000370730.1_Missense_Mutation_p.R9Q|LPHN2_ENST00000370721.1_Missense_Mutation_p.R9Q|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000359929.3_Missense_Mutation_p.R9Q|LPHN2_ENST00000370725.1_Missense_Mutation_p.R9Q|LPHN2_ENST00000335786.5_Missense_Mutation_p.R9Q|LPHN2_ENST00000319517.6_Missense_Mutation_p.R9Q|LPHN2_ENST00000370717.2_Missense_Mutation_p.R9Q|LPHN2_ENST00000394879.1_Missense_Mutation_p.R9Q|LPHN2_ENST00000370715.1_Missense_Mutation_p.R9Q|LPHN2_ENST00000370723.1_Missense_Mutation_p.R9Q			O95490	LPHN2_HUMAN	latrophilin 2	9					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TGCAGAATGCGAAGTCTGTGG	0.333		NA											G	1	5e-04	NA	NA	2184	NA	0.9999	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.889	LOWCOV	NA	NA	4e-04	SNP								NA				0								G	GLN/ARG	4,4402	8.1+/-20.4	0,4,2199	171	167	168		26	5.4	1	1	dbSNP_134	168	20,8580	14.6+/-50.1	0,20,4280	yes	missense	LPHN2	NM_012302.2	43	0,24,6479	AA,AG,GG	NA	0.2326,0.0908,0.1845	benign	9/1404	82302695	24,12982	2203	4300	6503	SO:0001583	missense			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114	23266	23266		-, GPCR / Class B : Orphans	18582	protein-coding gene	gene with protein product		607018	latrophilin 1	LPHH1	NA	10760572	Standard	NM_012302	XR_248786	NA	Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.26G>A	1.37:g.82302695G>A	ENSP00000359763:p.Arg9Gln	NA	B1ALT8|B1ALT9|B1ALU0|O94882|Q5VX76|Q9UKY5|Q9UKY6	37		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.19	2.761033	0.49468	9.08E-4	0.002326	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.69435	-0.36;-0.4;-0.38;-0.32;-0.33;-0.29;-0.34;-0.35;-0.34;-0.34;-0.33;-0.29;-0.32;-0.38	5.44	5.44	0.79542	.	0.570896	0.14787	N	0.298459	T	0.20536	0.0494	N	0.03608	-0.345	0.28792	N	0.899243	B;B;B;B	0.33494	0.0;0.0;0.0;0.414	B;B;B;B	0.22152	0.0;0.0;0.0;0.038	T	0.02654	-1.1128	10	0.51188	T	0.08	.	7.098	0.25321	0.2085:0.0:0.7915:0.0	.	9;9;9;9	O95490-3;O95490-4;O95490-2;B3KVU1	.;.;.;.	Q	9	ENSP00000359756:R9Q;ENSP00000359763:R9Q;ENSP00000359765:R9Q;ENSP00000359762:R9Q;ENSP00000359760:R9Q;ENSP00000359758:R9Q;ENSP00000353006:R9Q;ENSP00000359750:R9Q;ENSP00000359748:R9Q;ENSP00000322270:R9Q;ENSP00000359752:R9Q;ENSP00000378344:R9Q;ENSP00000271029:R9Q;ENSP00000337306:R9Q	ENSP00000271029:R9Q	R	+	2	0	LPHN2	82075283	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.096000	0.57734	2.560000	0.86352	0.467000	0.42956	CGA	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000027188.1		+	ENST00000370728.1	Missense_Mutation	SNP	1 : 82302695 - 82302695 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	335	54
NUP155	9631	broad.mit.edu	37	5	37324155	37324155	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37324155C>T	ENST00000231498.3	-	20	2349	c.2146G>A	c.(2146-2148)Ggt>Agt	p.G716S	NUP155_ENST00000513532.1_Missense_Mutation_p.G716S|NUP155_ENST00000381843.2_Missense_Mutation_p.G657S	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	716					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCTGCAAACCCTTTAGTTCT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	81	81			NA	NA	5		NA											NA				37324155		2203	4300	6503	SO:0001583	missense			AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569	9631	9631			8063	protein-coding gene	gene with protein product		606694	nucleoporin 155kD		NA	10191094	Standard	NM_153485, NM_004298	NM_153485	NA	Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.2146G>A	5.37:g.37324155C>T	ENSP00000231498:p.Gly716Ser	NA	Q9UBE9|Q9UFL5	37	CCDS3921.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103159	0.56183	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.75260	-0.91;-0.92;-0.83	5.78	5.78	0.91487	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.045015	0.85682	D	0.000000	T	0.64897	0.2640	N	0.21097	0.63	0.80722	D	1	B;B	0.25486	0.127;0.008	B;B	0.34991	0.193;0.046	T	0.59418	-0.7458	10	0.02654	T	1	.	20.01	0.97447	0.0:1.0:0.0:0.0	.	716;716	E9PF10;O75694	.;NU155_HUMAN	S	716;657;678;716	ENSP00000231498:G716S;ENSP00000371265:G657S;ENSP00000422019:G716S	ENSP00000231498:G716S	G	-	1	0	NUP155	37359912	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.876000	0.75556	2.725000	0.93324	0.655000	0.94253	GGT	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207593.2		-	ENST00000231498.3	Missense_Mutation	SNP	5 : 37324155 - 37324155 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	330	50
ADAM12	8038	broad.mit.edu	37	10	127806713	127806713	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127806713G>A	ENST00000368679.4	-	6	815	c.506C>T	c.(505-507)gCg>gTg	p.A169V	ADAM12_ENST00000368676.4_Missense_Mutation_p.A169V	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	169					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CAGCTTCTTCGCTGGGAAGAG	0.438		NA											g	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	0.0013	SNP								NA				0													155	135	142			NA	NA	10		NA											NA				127806713		2203	4300	6503	SO:0001583	missense			AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848	8038	8038		ADAM metallopeptidase domain containing	190	protein-coding gene	gene with protein product	meltrin alpha	602714	a disintegrin and metalloproteinase domain 12 (meltrin alpha)		NA	9417060, 18342566	Standard		NM_003474	NA	Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.506C>T	10.37:g.127806713G>A	ENSP00000357668:p.Ala169Val	NA	O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	37	CCDS7653.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	8.805	0.933822	0.18206	.	.	ENSG00000148848	ENST00000368679;ENST00000368676;ENST00000448723	T;T;T	0.21191	4.79;2.02;3.73	5.03	-1.72	0.08107	.	0.447781	0.22012	N	0.065856	T	0.06188	0.0160	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.29627	0.164;0.252;0.252;0.252;0.095	B;B;B;B;B	0.24394	0.024;0.053;0.053;0.053;0.016	T	0.32481	-0.9905	10	0.13853	T	0.58	.	2.4903	0.04608	0.3193:0.1111:0.4559:0.1137	.	166;166;169;166;169	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	V	169;169;166	ENSP00000357668:A169V;ENSP00000357665:A169V;ENSP00000391268:A166V	ENSP00000357665:A169V	A	-	2	0	ADAM12	127796703	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.068000	0.14531	-0.872000	0.04037	-1.731000	0.00696	GCG	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050961.1		-	ENST00000368679.4	Missense_Mutation	SNP	10 : 127806713 - 127806713 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	490	41
C6orf120	387263	broad.mit.edu	37	6	170102799	170102799	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170102799G>A	ENST00000332290.2	+	1	543	c.244G>A	c.(244-246)Gcc>Acc	p.A82T	C6orf120_ENST00000439249.1_Missense_Mutation_p.A101T	NM_001029863.1	NP_001025034.1	Q7Z4R8	CF120_HUMAN	chromosome 6 open reading frame 120	82						extracellular region				endometrium(1)|lung(2)	3		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)		GTACGTCTCCGCCAGCAGCCT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	48	50			NA	NA	6		NA											NA				170102799		2202	4300	6502	SO:0001583	missense			AF055030	CCDS34575.1	6q27	2012-06-21			ENSG00000185127	ENSG00000185127	387263	387263			21247	protein-coding gene	gene with protein product					NA	8619474, 9110174, 22340178	Standard	NM_001029863	NM_001029863	NA	Approved	bA160E12.4	uc003qxb.3	Q7Z4R8	OTTHUMG00000016057	ENST00000332290.2:c.244G>A	6.37:g.170102799G>A	ENSP00000346931:p.Ala82Thr	NA	B4DHE9|E1P5C9	37	CCDS34575.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886734	0.33348	.	.	ENSG00000185127	ENST00000439249;ENST00000332290	.	.	.	5.24	5.24	0.73138	.	0.210963	0.38436	U	0.001699	T	0.06096	0.0158	N	0.11427	0.14	0.27201	N	0.960165	P;P	0.42039	0.769;0.473	B;B	0.24848	0.056;0.039	T	0.12734	-1.0536	9	0.59425	D	0.04	-24.4242	13.1613	0.59547	0.0:0.0:0.8403:0.1597	.	101;82	B4DJ79;Q7Z4R8	.;CF120_HUMAN	T	101;82	.	ENSP00000346931:A82T	A	+	1	0	C6orf120	169844724	1.000000	0.71417	0.841000	0.33234	0.015000	0.08874	7.443000	0.80521	2.591000	0.87537	0.561000	0.74099	GCC	C6orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043214.1		+	ENST00000332290.2	Missense_Mutation	SNP	6 : 170102799 - 170102799 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	412	93
FCGBP	8857	broad.mit.edu	37	19	40357475	40357475	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40357475C>T	ENST00000221347.6	-	34	15845	c.15838G>A	c.(15838-15840)Gaa>Aaa	p.E5280K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5280	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ATCTGGACTTCGGCAACTACA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	100	103			NA	NA	19		NA											NA				40357475		2203	4300	6503	SO:0001583	missense			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395	8857	8857			13572	protein-coding gene	gene with protein product	IgG Fc binding protein, Human Fc gamma BP				NA	9182547	Standard	NM_003890	NM_003890	NA	Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15838G>A	19.37:g.40357475C>T	ENSP00000221347:p.Glu5280Lys	NA	O95784	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586176	0.46110	.	.	ENSG00000090920	ENST00000221347	T	0.59906	0.23	4.45	3.42	0.39159	von Willebrand factor, type D domain (3);	0.479844	0.13730	U	0.366800	T	0.46464	0.1394	N	0.08118	0	0.09310	N	1	D	0.60160	0.987	P	0.56788	0.806	T	0.24404	-1.0161	10	0.20046	T	0.44	.	8.1844	0.31330	0.0:0.8913:0.0:0.1087	.	5280	Q9Y6R7	FCGBP_HUMAN	K	5280	ENSP00000221347:E5280K	ENSP00000221347:E5280K	E	-	1	0	FCGBP	45049315	0.009000	0.17119	0.001000	0.08648	0.003000	0.03518	1.529000	0.35996	1.103000	0.41568	-0.136000	0.14681	GAA	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462507.1		-	ENST00000221347.6	Missense_Mutation	SNP	19 : 40357475 - 40357475 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	60
TAGAP	117289	broad.mit.edu	37	6	159456869	159456869	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159456869G>A	ENST00000367066.3	-	10	2517	c.2186C>T	c.(2185-2187)tCg>tTg	p.S729L	TAGAP_ENST00000326965.6_Missense_Mutation_p.S551L|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	729					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTAAATATACGATTCTTTGGC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	58	61			NA	NA	6		NA											NA				159456869		2203	4300	6503	SO:0001583	missense			AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691	117289	117289		Rho GTPase activating proteins	15669	protein-coding gene	gene with protein product		609667	T-cell activation GTPase activating protein		NA	16375659, 18311140, 18356936	Standard	NM_054114	NM_152133	NA	Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.2186C>T	6.37:g.159456869G>A	ENSP00000356033:p.Ser729Leu	NA	Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	37	CCDS5261.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337066	0.81801	.	.	ENSG00000164691	ENST00000367066;ENST00000326965	T;T	0.52526	0.66;0.81	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.64702	0.2622	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	P	0.62089	0.898	T	0.67185	-0.5734	10	0.87932	D	0	-37.4518	19.9804	0.97323	0.0:0.0:1.0:0.0	.	729	Q8N103	TAGAP_HUMAN	L	729;551	ENSP00000356033:S729L;ENSP00000322650:S551L	ENSP00000322650:S551L	S	-	2	0	TAGAP	159376857	1.000000	0.71417	0.997000	0.53966	0.193000	0.23685	8.479000	0.90431	2.825000	0.97269	0.655000	0.94253	TCG	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042890.1		-	ENST00000367066.3	Missense_Mutation	SNP	6 : 159456869 - 159456869 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	283	52
DISP2	85455	broad.mit.edu	37	15	40662041	40662041	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40662041G>A	ENST00000267889.3	+	8	3815	c.3728G>A	c.(3727-3729)aGc>aAc	p.S1243N		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1243					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GCTGGCCCCAGCCCCAAAACC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	17	16			NA	NA	15		NA											NA				40662041		2201	4291	6492	SO:0001583	missense			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323	85455	85455			19712	protein-coding gene	gene with protein product		607503			NA	11214970, 10619433	Standard	NM_033510	NM_033510	NA	Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.3728G>A	15.37:g.40662041G>A	ENSP00000267889:p.Ser1243Asn	NA	Q6AHW3|Q9C0C1	37	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	G	8.297	0.818993	0.16607	.	.	ENSG00000140323	ENST00000267889	T	0.11821	2.74	5.3	1.31	0.21738	.	0.708449	0.15445	N	0.261977	T	0.06645	0.0170	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.40664	-0.9551	10	0.19590	T	0.45	-9.9672	6.7334	0.23395	0.2686:0.2421:0.4894:0.0	.	1243	A7MBM2	DISP2_HUMAN	N	1243	ENSP00000267889:S1243N	ENSP00000267889:S1243N	S	+	2	0	DISP2	38449333	0.996000	0.38824	0.972000	0.41901	0.937000	0.57800	1.217000	0.32455	0.439000	0.26476	0.561000	0.74099	AGC	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252249.1		+	ENST00000267889.3	Missense_Mutation	SNP	15 : 40662041 - 40662041 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	203	38
LRIG3	121227	broad.mit.edu	37	12	59277343	59277343	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:59277343T>C	ENST00000320743.3	-	11	1561	c.1275A>G	c.(1273-1275)ttA>ttG	p.L425L	LRIG3_ENST00000379141.4_Silent_p.L365L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	425						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CATTGCCTTGTAAAGACATGA	0.383		NA	T	ROS1	NSCLC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	0													123	117	119			NA	NA	12		NA											NA				59277343		2203	4300	6503	SO:0001819	synonymous_variant			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263	121227	121227		Immunoglobulin superfamily / I-set domain containing	30991	protein-coding gene	gene with protein product		608870			NA		Standard	NM_153377	NM_153377	NA	Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.1275A>G	12.37:g.59277343T>C		NA	Q6UXL7|Q8NC72	37	CCDS8960.1																																																																																			LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406623.1		-	ENST00000320743.3	Silent	SNP	12 : 59277343 - 59277343 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	377	57
GRHL3	57822	broad.mit.edu	37	1	24663190	24663190	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24663190G>A	ENST00000361548.4	+	4	715	c.485G>A	c.(484-486)aGc>aAc	p.S162N	GRHL3_ENST00000342072.4_Missense_Mutation_p.S69N|GRHL3_ENST00000530984.1_3'UTR|GRHL3_ENST00000350501.5_Missense_Mutation_p.S162N|GRHL3_ENST00000236255.4_Missense_Mutation_p.S167N|GRHL3_ENST00000356046.2_Missense_Mutation_p.S116N	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	162					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TCTGTGGACAGCTACCTGTTA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	93	90			NA	NA	1		NA											NA				24663190		2203	4300	6503	SO:0001583	missense			AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055	57822	57822			25839	protein-coding gene	gene with protein product		608317	transcription factor CP2-like 4	TFCP2L4	NA	12549979	Standard	NM_021180	NM_021180	NA	Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000361548.4:c.485G>A	1.37:g.24663190G>A	ENSP00000354943:p.Ser162Asn	NA	Q5TH78|Q86Y06|Q8N407	37	CCDS44088.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.594031	0.46214	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.12984	2.89;2.63;2.87;2.88;2.88	6.02	6.02	0.97574	.	0.562092	0.19630	N	0.109684	T	0.14485	0.0350	L	0.56769	1.78	0.28519	N	0.913146	B;B;B	0.14438	0.006;0.01;0.01	B;B;B	0.16722	0.007;0.016;0.016	T	0.09271	-1.0682	10	0.24483	T	0.36	-22.351	9.0793	0.36542	0.0774:0.1595:0.7631:0.0	.	116;167;162	A2A297;Q8TE85-2;G3XAF0	.;.;.	N	162;69;162;116;167	ENSP00000354943:S162N;ENSP00000340543:S69N;ENSP00000288955:S162N;ENSP00000348333:S116N;ENSP00000236255:S167N	ENSP00000236255:S167N	S	+	2	0	GRHL3	24535777	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	1.489000	0.35562	2.865000	0.98341	0.655000	0.94253	AGC	GRHL3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392498.1		+	ENST00000361548.4	Missense_Mutation	SNP	1 : 24663190 - 24663190 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	735	74
MOB3A	126308	broad.mit.edu	37	19	2076822	2076822	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2076822C>A	ENST00000357066.3	-	4	991	c.612G>T	c.(610-612)gaG>gaT	p.E204D	MOB3A_ENST00000592143.1_Intron|MOB3A_ENST00000592280.1_Missense_Mutation_p.E204D	NM_130807.2	NP_570719.1	Q96BX8	MOL2A_HUMAN	MOB kinase activator 3A	204						intracellular	metal ion binding				NA						GTGGCTCCAGCTCCTTGGTGT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	56	59			NA	NA	19		NA											NA				2076822		2203	4300	6503	SO:0001583	missense			AK095471	CCDS12081.1	19p13.3	2011-09-28	2011-09-28	2011-09-28	ENSG00000172081	ENSG00000172081	126308	126308		MOB kinase activators	29802	protein-coding gene	gene with protein product	MOB LAK		MOB1, Mps One Binder kinase activator-like 2A (yeast)	MOBKL2A	NA	12477932	Standard	NM_130807	NM_130807	NA	Approved	MOB1C, MOB-LAK, moblak	uc002luv.3	Q96BX8		ENST00000357066.3:c.612G>T	19.37:g.2076822C>A	ENSP00000349575:p.Glu204Asp	NA	B3KTF1|O75249|Q8TF69	37	CCDS12081.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623587	0.66901	.	.	ENSG00000172081	ENST00000357066	.	.	.	3.5	1.26	0.21427	.	0.000000	0.85682	D	0.000000	T	0.64260	0.2582	M	0.72894	2.215	0.58432	D	0.999999	D	0.63880	0.993	P	0.59889	0.865	T	0.60974	-0.7156	9	0.34782	T	0.22	-41.7599	6.7848	0.23668	0.0:0.6766:0.0:0.3234	.	204	Q96BX8	MOB3A_HUMAN	D	204	.	ENSP00000349575:E204D	E	-	3	2	MOBKL2A	2027822	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.270000	0.33086	0.698000	0.31739	0.491000	0.48974	GAG	MOB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450893.1		-	ENST00000357066.3	Missense_Mutation	SNP	19 : 2076822 - 2076822 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	240	21
ACBD5	91452	broad.mit.edu	37	10	27497259	27497259	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27497259G>A	ENST00000396271.3	-	10	1446	c.1320C>T	c.(1318-1320)atC>atT	p.I440I	ACBD5_ENST00000375897.3_Silent_p.I263I|ACBD5_ENST00000375901.1_Silent_p.I331I|ACBD5_ENST00000375888.1_Silent_p.I449I|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375905.4_Silent_p.I405I	NM_001271512.1|NM_145698.3	NP_001258441.1|NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	449					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GCACGAGGGCGATCTGCTCAT	0.572		NA											G	1	5e-04	NA	0.0028	2184	NA	1	,	,	NA	2e-04	NA	NA	NA	4e-04	0.95	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0													122	111	115			NA	NA	10		NA											NA				27497259		2203	4300	6503	SO:0001819	synonymous_variant			AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897	91452	91452			23338	protein-coding gene	gene with protein product			acyl-Coenzyme A binding domain containing 5		NA	12056414	Standard	NM_145698	NR_024150	NA	Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000396271.3:c.1320C>T	10.37:g.27497259G>A		NA	B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	37	CCDS44368.1																																																																																			ACBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047310.1		-	ENST00000396271.3	Silent	SNP	10 : 27497259 - 27497259 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	761	63
SLC2A4RG	56731	broad.mit.edu	37	20	62372827	62372827	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62372827G>A	ENST00000266077.2	+	3	438	c.386G>A	c.(385-387)aGc>aAc	p.S129N	SLC2A4RG_ENST00000493772.1_3'UTR	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	129						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GCAGCCTTCAGCCCAGGTAAG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	38	38			NA	NA	20		NA											NA				62372827		2200	4300	6500	SO:0001583	missense			AF249267	CCDS13537.1	20q13.33	2010-03-11			ENSG00000125520	ENSG00000125520	56731	56731			15930	protein-coding gene	gene with protein product	GLUT4 enhancer factor, Huntington's disease gene regulatory region-binding protein 1	609493			NA	10825161	Standard	NM_020062	NM_020062	NA	Approved	GEF, HDBP1, Si-1-2, Si-1-2-19	uc002ygq.3	Q9NR83	OTTHUMG00000032997	ENST00000266077.2:c.386G>A	20.37:g.62372827G>A	ENSP00000266077:p.Ser129Asn	NA	Q6F6I6|Q6F6I7|Q6GTK5|Q8TAH5|Q8WVW7|Q96QD3|Q9BV85	37	CCDS13537.1	.	.	.	.	.	.	.	.	.	.	G	8.622	0.891685	0.17613	.	.	ENSG00000125520	ENST00000266077	T	0.33438	1.41	4.08	3.07	0.35406	.	0.211659	0.23160	U	0.051245	T	0.26376	0.0644	L	0.55481	1.735	0.09310	N	1	P	0.50528	0.936	B	0.42030	0.373	T	0.14200	-1.0481	10	0.40728	T	0.16	.	7.8892	0.29667	0.0:0.294:0.5475:0.1585	.	129	Q9NR83	S2A4R_HUMAN	N	129	ENSP00000266077:S129N	ENSP00000266077:S129N	S	+	2	0	SLC2A4RG	61843271	0.288000	0.24324	0.194000	0.23346	0.096000	0.18686	1.799000	0.38824	1.847000	0.53656	0.491000	0.48974	AGC	SLC2A4RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080202.1		+	ENST00000266077.2	Missense_Mutation	SNP	20 : 62372827 - 62372827 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	237	31
FILIP1	27145	broad.mit.edu	37	6	76024448	76024448	+	Missense_Mutation	SNP	G	G	A	rs146943364		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76024448G>A	ENST00000393004.2	-	5	1321	c.1100C>T	c.(1099-1101)gCc>gTc	p.A367V	FILIP1_ENST00000370020.1_Missense_Mutation_p.A268V|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.A367V			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	367										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTCTCCTTTGGCAATTTTATC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	160	160			NA	NA	6		NA											NA				76024448		2203	4300	6503	SO:0001583	missense			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407	27145	27145			21015	protein-coding gene	gene with protein product		607307			NA	10574462	Standard	XM_029179	XM_005248713	NA	Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000393004.2:c.1100C>T	6.37:g.76024448G>A	ENSP00000376728:p.Ala367Val	NA	B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	37		.	.	.	.	.	.	.	.	.	.	G	11.24	1.580619	0.28180	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.18338	2.22;2.22;2.22	5.65	5.65	0.86999	.	0.165064	0.56097	D	0.000031	T	0.07728	0.0194	N	0.25647	0.755	0.34645	D	0.721069	P;B;P	0.38922	0.651;0.415;0.551	B;B;B	0.36922	0.15;0.119;0.236	T	0.21042	-1.0257	10	0.25751	T	0.34	-18.1589	20.0965	0.97849	0.0:0.0:1.0:0.0	.	367;367;367	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	V	367;367;268	ENSP00000376728:A367V;ENSP00000237172:A367V;ENSP00000359037:A268V	ENSP00000237172:A367V	A	-	2	0	FILIP1	76081168	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.729000	0.62008	2.824000	0.97209	0.655000	0.94253	GCC	FILIP1-004	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000471226.1		-	ENST00000393004.2	Missense_Mutation	SNP	6 : 76024448 - 76024448 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	930	160
CACNA1E	777	broad.mit.edu	37	1	181741352	181741352	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181741352C>T	ENST00000526775.1	+	36	5232	c.5067C>T	c.(5065-5067)ttC>ttT	p.F1689F	CACNA1E_ENST00000367570.1_Silent_p.F1708F|CACNA1E_ENST00000357570.5_Silent_p.F1659F|CACNA1E_ENST00000358338.5_Silent_p.F1640F|CACNA1E_ENST00000367573.2_Silent_p.F1708F|CACNA1E_ENST00000367567.4_Silent_p.F1315F|CACNA1E_ENST00000360108.3_Silent_p.F1689F	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1708					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCTTCATCTTCTTCTGCTCCT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													207	206	206			NA	NA	1		NA											NA				181741352		2184	4273	6457	SO:0001819	synonymous_variant			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216	777	777		Calcium channel subunits, Voltage-gated ion channels / Calcium channels, EF-hand domain containing	1392	protein-coding gene	gene with protein product		601013		CACNL1A6	NA	8388125, 16382099	Standard	NM_000721	NM_001205293	NA	Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000526775.1:c.5067C>T	1.37:g.181741352C>T		NA	B1AM12|B1AM13|B1AM14|Q14580|Q14581	37	CCDS55665.1																																																																																			CACNA1E-002	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090792.2		+	ENST00000526775.1	Silent	SNP	1 : 181741352 - 181741352 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	873	224
CABS1	85438	broad.mit.edu	37	4	71201322	71201322	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71201322G>T	ENST00000273936.5	+	1	640	c.566G>T	c.(565-567)aGc>aTc	p.S189I		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	NA						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCTGATATGAGCAATTATAAT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	63	62			NA	NA	4		NA											NA				71201322		2200	4298	6498	SO:0001583	missense			AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309	85438	85438			30710	protein-coding gene	gene with protein product	casein-like phosphoprotein		chromosome 4 open reading frame 35	C4orf35	NA	19208547, 19271754	Standard	NM_033122	NM_033122	NA	Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.566G>T	4.37:g.71201322G>T	ENSP00000273936:p.Ser189Ile	NA	B2RCB5|Q86UE0|Q96M17	37	CCDS3539.1	.	.	.	.	.	.	.	.	.	.	A	7.855	0.724735	0.15439	.	.	ENSG00000145309	ENST00000273936	T	0.22336	1.96	3.92	-4.25	0.03766	.	.	.	.	.	T	0.09379	0.0231	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31308	-0.9948	9	0.41790	T	0.15	.	0.6983	0.00903	0.235:0.1368:0.3074:0.3208	.	189	Q96KC9	CABS1_HUMAN	I	189	ENSP00000273936:S189I	ENSP00000273936:S189I	S	+	2	0	CABS1	71235911	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-2.149000	0.01291	-0.839000	0.04212	-1.044000	0.02363	AGC	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251561.3		+	ENST00000273936.5	Missense_Mutation	SNP	4 : 71201322 - 71201322 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	283	51
OR6B2	389090	broad.mit.edu	37	2	240969775	240969775	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240969775C>T	ENST00000402971.2	-	1	131	c.72G>A	c.(70-72)caG>caA	p.Q24Q		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		AGAGCAGGTACTGCAGCCCTG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	51	50			NA	NA	2		NA											NA				240969775		2043	4191	6234	SO:0001819	synonymous_variant				CCDS46559.1	2q37.3	2012-08-09	2004-10-07	2004-10-07	ENSG00000182083	ENSG00000182083	389090	389090		GPCR / Class A : Olfactory receptors	15041	protein-coding gene	gene with protein product			olfactory receptor, family 6, subfamily B, member 2 pseudogene	OR6B2P	NA		Standard	NM_001005853	XM_005247004	NA	Approved		uc010zoc.2	Q6IFH4	OTTHUMG00000152400	ENST00000402971.2:c.72G>A	2.37:g.240969775C>T		NA	B2RPR3|Q8NGW0	37	CCDS46559.1																																																																																			OR6B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326079.1		-	ENST00000402971.2	Silent	SNP	2 : 240969775 - 240969775 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	394	109
KIF19	124602	broad.mit.edu	37	17	72346711	72346711	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72346711C>T	ENST00000389916.4	+	11	1523	c.1385C>T	c.(1384-1386)gCc>gTc	p.A462V		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	462					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CTCACCATCGCCGGGTAAGCC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	25	25			NA	NA	17		NA											NA				72346711		2203	4298	6501	SO:0001583	missense			AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169	124602	124602		Kinesins	26735	protein-coding gene	gene with protein product					NA	11416179	Standard	NM_153209	NM_153209	NA	Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.1385C>T	17.37:g.72346711C>T	ENSP00000374566:p.Ala462Val	NA	A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	37	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.066952	0.76301	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.74209	-0.82;-0.58	5.67	5.67	0.87782	.	.	.	.	.	D	0.84538	0.5494	M	0.69823	2.125	0.58432	D	0.999999	P;D;P;P	0.65815	0.923;0.995;0.837;0.734	P;P;P;P	0.62560	0.754;0.904;0.713;0.559	D	0.84054	0.0371	9	0.46703	T	0.11	.	18.5927	0.91220	0.0:1.0:0.0:0.0	.	462;420;420;462	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	V	420;462	ENSP00000449134:A420V;ENSP00000374566:A462V	ENSP00000374566:A462V	A	+	2	0	KIF19	69858306	1.000000	0.71417	0.614000	0.29051	0.022000	0.10575	6.963000	0.76055	2.695000	0.91970	0.650000	0.86243	GCC	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319644.2		+	ENST00000389916.4	Missense_Mutation	SNP	17 : 72346711 - 72346711 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	176	18
DNMBP	23268	broad.mit.edu	37	10	101654741	101654741	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101654741A>G	ENST00000324109.4	-	11	3209	c.3118T>C	c.(3118-3120)Ttt>Ctt	p.F1040L	DNMBP_ENST00000342239.3_Missense_Mutation_p.F1064L|DNMBP_ENST00000543621.1_Missense_Mutation_p.F286L|DNMBP_ENST00000540316.1_5'UTR	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1040	BAR.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCTCGGATAAAAGACTTAATC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	133	140			NA	NA	10		NA											NA				101654741		2203	4300	6503	SO:0001583	missense			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554	23268	23268		Rho guanine nucleotide exchange factors	30373	protein-coding gene	gene with protein product	scaffold protein TUBA	611282			NA	10231032, 14506234	Standard	NM_015221	NM_015221	NA	Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.3118T>C	10.37:g.101654741A>G	ENSP00000315659:p.Phe1040Leu	NA	Q8IVY3|Q9Y2L3	37	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	A	19.22	3.785164	0.70222	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621	T;T;T	0.42513	0.97;0.97;0.97	5.77	5.77	0.91146	BAR (3);	0.000000	0.50627	D	0.000104	T	0.48677	0.1513	N	0.17082	0.46	0.80722	D	1	D;D;D	0.76494	0.999;0.98;0.999	D;P;D	0.87578	0.998;0.849;0.998	T	0.48163	-0.9059	10	0.33141	T	0.24	-20.926	15.7668	0.78131	1.0:0.0:0.0:0.0	.	1040;286;1064	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	L	1064;1040;286;286	ENSP00000344914:F1064L;ENSP00000315659:F1040L;ENSP00000443657:F286L	ENSP00000315659:F1040L	F	-	1	0	DNMBP	101644731	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	9.184000	0.94893	2.201000	0.70794	0.528000	0.53228	TTT	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049832.2		-	ENST00000324109.4	Missense_Mutation	SNP	10 : 101654741 - 101654741 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	209	33
PPP4R1	9989	broad.mit.edu	37	18	9570435	9570435	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9570435T>G	ENST00000400556.3	-	11	1366	c.1293A>C	c.(1291-1293)aaA>aaC	p.K431N	PPP4R1_ENST00000400555.3_Missense_Mutation_p.K414N	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	431					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						GTAACATAGATTTGTAGTTAC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(188;1232 2082 5061 11948 35994)							NA				0													92	88	89			NA	NA	18		NA											NA				9570435		1857	4085	5942	SO:0001583	missense			AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845	9989	9989		Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits	9320	protein-coding gene	gene with protein product		604908			NA	10026142	Standard	NM_005134	NM_001042388	NA	Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.1293A>C	18.37:g.9570435T>G	ENSP00000383402:p.Lys431Asn	NA	Q99774|Q9UNQ7	37	CCDS42412.1	.	.	.	.	.	.	.	.	.	.	T	11.43	1.636570	0.29068	.	.	ENSG00000154845	ENST00000400556;ENST00000400555;ENST00000285124	T;T	0.19394	2.15;2.15	5.52	-1.54	0.08584	Armadillo-type fold (1);	1.051530	0.07338	N	0.880217	T	0.09024	0.0223	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.37079	-0.9721	9	.	.	.	-2.9067	0.4872	0.00558	0.1767:0.2291:0.2082:0.386	.	414;431;414	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	N	431;414;342	ENSP00000383402:K431N;ENSP00000383401:K414N	.	K	-	3	2	PPP4R1	9560435	0.000000	0.05858	0.001000	0.08648	0.572000	0.35998	0.382000	0.20635	0.014000	0.14944	0.482000	0.46254	AAA	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268571.1		-	ENST00000400556.3	Missense_Mutation	SNP	18 : 9570435 - 9570435 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	602	113
COX7C	1350	broad.mit.edu	37	5	85915251	85915251	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:85915251T>G	ENST00000509578.1	+	2	257	c.157T>G	c.(157-159)Ttc>Gtc	p.F53V	COX7C_ENST00000513124.1_3'UTR|COX7C_ENST00000515763.1_Missense_Mutation_p.F53V|COX7C_ENST00000247655.3_Missense_Mutation_p.F53V			P15954	COX7C_HUMAN	cytochrome c oxidase subunit VIIc	53					respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity			endometrium(1)|lung(1)	2		all_cancers(142;7e-06)|Lung NSC(167;0.000601)|all_lung(232;0.000693)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;1.56e-40)|Epithelial(54;3.17e-34)|all cancers(79;3.36e-29)		TGCTACACCCTTCCTTGTAGT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	164	168			NA	NA	5		NA											NA				85915251		2203	4300	6503	SO:0001583	missense			BC001005	CCDS4063.1	5q14	2011-07-04			ENSG00000127184	ENSG00000127184	1350	1350	1.9.3.1	Mitochondrial respiratory chain complex / Complex IV	2292	protein-coding gene	gene with protein product		603774			NA	10072584	Standard	NM_001867	NM_001867	NA	Approved		uc003kir.3	P15954	OTTHUMG00000119049	ENST00000509578.1:c.157T>G	5.37:g.85915251T>G	ENSP00000425759:p.Phe53Val	NA	Q6NR81	37	CCDS4063.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.176737	0.38413	.	.	ENSG00000127184	ENST00000247655;ENST00000509578;ENST00000515763	.	.	.	5.6	5.6	0.85130	Cytochrome c oxidase, subunit VIIc domain (2);	0.000000	0.85682	D	0.000000	T	0.78091	0.4229	.	.	.	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.80632	-0.1296	8	0.66056	D	0.02	-14.2803	12.1643	0.54120	0.0:0.0:0.0:1.0	.	53	P15954	COX7C_HUMAN	V	53	.	ENSP00000247655:F53V	F	+	1	0	COX7C	85951007	1.000000	0.71417	0.645000	0.29479	0.038000	0.13279	5.524000	0.67105	2.118000	0.64928	0.533000	0.62120	TTC	COX7C-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369746.1		+	ENST00000509578.1	Missense_Mutation	SNP	5 : 85915251 - 85915251 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	711	116
KIF2B	84643	broad.mit.edu	37	17	51900373	51900373	+	Translation_Start_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:51900373C>A	ENST00000268919.4	+	0	135					NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	NA					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGGAGCGCTCCCTGATACCTC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	30	30			NA	NA	17		NA											NA				51900373		2203	4300	6503					AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200	84643	84643		Kinesins	29443	protein-coding gene	gene with protein product		615142			NA	11416179	Standard	NM_032559	NM_032559	NA	Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:	17.37:g.51900373C>A		NA	Q96MA2|Q9BXG6	37	CCDS32685.1																																																																																			KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438854.1		+	ENST00000268919.4	De_novo_Start_InFrame	SNP	17 : 51900373 - 51900373 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	151	31
PPRC1	23082	broad.mit.edu	37	10	103900616	103900616	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103900616A>C	ENST00000278070.2	+	5	2390	c.2351A>C	c.(2350-2352)gAg>gCg	p.E784A	PPRC1_ENST00000413464.2_Missense_Mutation_p.E784A	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	784	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGCCTTCCAGAGACTCCCACA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	91	89			NA	NA	10		NA											NA				103900616		2203	4300	6503	SO:0001583	missense			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840	23082	23082		RNA binding motif (RRM) containing	30025	protein-coding gene	gene with protein product			peroxisome proliferative activated receptor, gamma, coactivator-related 1		NA	9628581, 11340167	Standard	NM_015062	XM_005269656	NA	Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.2351A>C	10.37:g.103900616A>C	ENSP00000278070:p.Glu784Ala	NA	Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	37	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.869727	0.51588	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.36520	1.34;1.25	5.41	4.21	0.49690	.	0.278437	0.31071	N	0.008315	T	0.44350	0.1289	L	0.34521	1.04	0.39246	D	0.963949	D;D;D	0.65815	0.991;0.995;0.991	P;D;P	0.64144	0.876;0.922;0.838	T	0.41752	-0.9491	10	0.46703	T	0.11	.	12.1932	0.54282	0.8725:0.0:0.0:0.1275	.	784;664;784	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	A	784	ENSP00000278070:E784A;ENSP00000399743:E784A	ENSP00000278070:E784A	E	+	2	0	PPRC1	103890606	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.134000	0.64770	2.184000	0.69523	0.459000	0.35465	GAG	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050021.1		+	ENST00000278070.2	Missense_Mutation	SNP	10 : 103900616 - 103900616 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	564	120
COL22A1	169044	broad.mit.edu	37	8	139763703	139763703	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:139763703G>A	ENST00000303045.6	-	22	2529	c.2083C>T	c.(2083-2085)Cga>Tga	p.R695*	COL22A1_ENST00000435777.1_Nonsense_Mutation_p.R695*	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	695	Collagen-like 4.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTACTTACTCGGAGACCTTGC	0.448		NA								HNSCC(7;0.00092)			G	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	1	EXOME	NA	NA	3e-04	SNP								NA				0								G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	113	113	113		2083	4.7	1	8		113	0,8600		0,0,4300	no	stop-gained	COL22A1	NM_152888.1		0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077		695/1627	139763703	1,13005	2203	4300	6503	SO:0001587	stop_gained			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436	169044	169044		Collagens	22989	protein-coding gene	gene with protein product		610026			NA		Standard	XM_291257	NM_152888	NA	Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2083C>T	8.37:g.139763703G>A	ENSP00000303153:p.Arg695*	NA	B7ZMH0|C9K0G4|Q8IVT9	37	CCDS6376.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	44	11.243823	0.99536	2.27E-4	0.0	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	.	.	.	4.72	4.72	0.59763	.	0.168727	0.26457	N	0.024262	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	13.3916	0.60827	0.0:0.0:1.0:0.0	.	.	.	.	X	695;695;408	.	ENSP00000303153:R695X	R	-	1	2	COL22A1	139832885	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.035000	0.57297	2.640000	0.89533	0.655000	0.94253	CGA	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000315905.2		-	ENST00000303045.6	Nonsense_Mutation	SNP	8 : 139763703 - 139763703 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	243	41
PTPRZ1	5803	broad.mit.edu	37	7	121659225	121659225	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121659225T>G	ENST00000449182.1	+	13	2450	c.2311T>G	c.(2311-2313)Ttg>Gtg	p.L771V	PTPRZ1_ENST00000393386.2_Missense_Mutation_p.L1631V	NM_001206839.1	NP_001193768.1	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1631					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AGCTGAGGGGTTGGAATCCGA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													207	184	192			NA	NA	7		NA											NA				121659225		2203	4300	6503	SO:0001583	missense			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278	5803	5803		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ	NA	7736789, 8387522	Standard	NM_002851	NM_001206838	NA	Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000449182.1:c.2311T>G	7.37:g.121659225T>G	ENSP00000410000:p.Leu771Val	NA	A4D0W5|O76043|Q9UDR6	37	CCDS56505.1	.	.	.	.	.	.	.	.	.	.	T	10.79	1.450921	0.26074	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.75589	0.81;-0.95	5.37	-5.41	0.02648	.	0.000000	0.53938	D	0.000053	T	0.67850	0.2937	M	0.66939	2.045	0.23198	N	0.998139	B;B;P	0.40360	0.1;0.067;0.714	B;B;B	0.37198	0.084;0.018;0.243	T	0.62353	-0.6872	10	0.54805	T	0.06	.	16.7431	0.85465	0.0:0.5728:0.0:0.4272	.	770;771;1631	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	V	1631;771	ENSP00000377047:L1631V;ENSP00000410000:L771V	ENSP00000377047:L1631V	L	+	1	2	PTPRZ1	121446461	0.681000	0.27614	0.383000	0.26132	0.982000	0.71751	-0.257000	0.08745	-1.949000	0.01031	-1.463000	0.01021	TTG	PTPRZ1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347289.1		+	ENST00000449182.1	Missense_Mutation	SNP	7 : 121659225 - 121659225 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	374	61
HCRTR1	3061	broad.mit.edu	37	1	32084938	32084938	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32084938C>A	ENST00000373706.5	+	1	298	c.145C>A	c.(145-147)Ctc>Atc	p.L49I	HCRTR1_ENST00000373705.1_Missense_Mutation_p.L49I|HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000403528.2_Missense_Mutation_p.L49I			O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	49					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		TGAGTGGGTCCTCATCGCAGC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	145	144			NA	NA	1		NA											NA				32084938		2203	4300	6503	SO:0001583	missense			AF041243	CCDS344.1	1p33	2012-08-08			ENSG00000121764	ENSG00000121764	3061	3061		GPCR / Class A : Hypocretin (orexin) receptors	4848	protein-coding gene	gene with protein product		602392			NA	9491897	Standard	NM_001525	NM_001525	NA	Approved	OX1R	uc009vtx.2	O43613	OTTHUMG00000003876	ENST00000373706.5:c.145C>A	1.37:g.32084938C>A	ENSP00000362810:p.Leu49Ile	NA	A8K3A6|Q9HBV6	37	CCDS344.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248482	0.80024	.	.	ENSG00000121764	ENST00000403528;ENST00000373706;ENST00000373705	T;T;T	0.43294	0.95;0.95;0.95	4.03	4.03	0.46877	.	0.000000	0.64402	D	0.000004	T	0.51058	0.1652	L	0.47190	1.495	0.43863	D	0.996469	D;P	0.61697	0.99;0.941	P;P	0.58013	0.831;0.693	T	0.50898	-0.8773	10	0.44086	T	0.13	.	14.47	0.67509	0.0:1.0:0.0:0.0	.	49;49	A6NMV7;O43613	.;OX1R_HUMAN	I	49	ENSP00000384387:L49I;ENSP00000362810:L49I;ENSP00000362809:L49I	ENSP00000362809:L49I	L	+	1	0	HCRTR1	31857525	0.996000	0.38824	1.000000	0.80357	0.994000	0.84299	3.548000	0.53670	2.160000	0.67779	0.591000	0.81541	CTC	HCRTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000011042.1		+	ENST00000373706.5	Missense_Mutation	SNP	1 : 32084938 - 32084938 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	977	92
LPA	4018	broad.mit.edu	37	6	161012086	161012086	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161012086G>T	ENST00000316300.5	-	23	3721	c.3677C>A	c.(3676-3678)cCt>cAt	p.P1226H	LPA_ENST00000447678.1_Missense_Mutation_p.P1226H			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3734	Kringle 11.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATAACACCAAGGACTAATCTC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	93	94			NA	NA	6		NA											NA				161012086		2192	4300	6492	SO:0001583	missense			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670	4018	4018			6667	protein-coding gene	gene with protein product		152200		LP	NA	3670400	Standard	NM_005577	NM_005577	NA	Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3677C>A	6.37:g.161012086G>T	ENSP00000321334:p.Pro1226His	NA	Q5VTD7|Q9UD88	37	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	11.45	1.642013	0.29157	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.83914	-1.78;-1.78	2.23	2.23	0.28157	Kringle (4);Kringle-like fold (1);Kringle, conserved site (1);	.	.	.	.	D	0.93245	0.7848	H	0.99697	4.71	0.25370	N	0.9887	D	0.89917	1.0	D	0.97110	1.0	D	0.84621	0.0684	9	0.72032	D	0.01	.	10.0796	0.42381	0.0:0.0:1.0:0.0	.	3734	P08519	APOA_HUMAN	H	1226	ENSP00000321334:P1226H;ENSP00000395608:P1226H	ENSP00000321334:P1226H	P	-	2	0	LPA	160932076	1.000000	0.71417	0.657000	0.29651	0.220000	0.24768	6.735000	0.74806	1.225000	0.43566	0.205000	0.17691	CCT	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042957.1		-	ENST00000316300.5	Missense_Mutation	SNP	6 : 161012086 - 161012086 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	176	47
CASC4	113201	broad.mit.edu	37	15	44581358	44581358	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44581358A>C	ENST00000299957.6	+	1	430	c.131A>C	c.(130-132)gAg>gCg	p.E44A	CASC4_ENST00000429162.2_3'UTR|CASC4_ENST00000360824.3_Missense_Mutation_p.E44A|CASC4_ENST00000345795.2_Missense_Mutation_p.E44A	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	44						integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		CTGCTTCAGGAGGAGGTGGCC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	47	47			NA	NA	15		NA											NA				44581358		2198	4297	6495	SO:0001583	missense			AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734	113201	113201			24892	protein-coding gene	gene with protein product					NA	10497265	Standard	NM_138423	NM_138423	NA	Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000299957.6:c.131A>C	15.37:g.44581358A>C	ENSP00000299957:p.Glu44Ala	NA	Q6UY45|Q96EM1	37	CCDS10108.1	.	.	.	.	.	.	.	.	.	.	A	33	5.276396	0.95459	.	.	ENSG00000166734	ENST00000299957;ENST00000429162;ENST00000345795;ENST00000360824;ENST00000416522	.	.	.	5.42	5.42	0.78866	.	0.052169	0.85682	D	0.000000	T	0.68696	0.3029	L	0.53249	1.67	0.58432	D	0.999992	D;D;D	0.71674	0.993;0.998;0.998	P;P;D	0.65987	0.879;0.879;0.94	T	0.64786	-0.6325	9	0.21540	T	0.41	-17.9117	15.44	0.75176	1.0:0.0:0.0:0.0	.	44;44;44	Q6P4E1-2;G5E934;Q6P4E1	.;.;CASC4_HUMAN	A	44;44;44;44;23	.	ENSP00000299957:E44A	E	+	2	0	CASC4	42368650	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.051000	0.93849	2.050000	0.60909	0.459000	0.35465	GAG	CASC4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253815.1		+	ENST00000299957.6	Missense_Mutation	SNP	15 : 44581358 - 44581358 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	645	126
SFXN5	94097	broad.mit.edu	37	2	73198789	73198789	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73198789G>A	ENST00000272433.2	-	11	781	c.651C>T	c.(649-651)gtC>gtT	p.V217V	SFXN5_ENST00000410065.1_Intron|SFXN5_ENST00000474528.1_5'UTR	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	217					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						ACCGCATCAGGACCACATTGC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	74	85			NA	NA	2		NA											NA				73198789		2203	4300	6503	SO:0001819	synonymous_variant			AY044437	CCDS1922.1	2p13	2008-05-21			ENSG00000144040	ENSG00000144040	94097	94097		Sideroflexins	16073	protein-coding gene	gene with protein product		615572			NA	12039050, 12150972	Standard	NM_144579	XM_005264648	NA	Approved	BBG-TCC	uc002siq.3	Q8TD22	OTTHUMG00000129775	ENST00000272433.2:c.651C>T	2.37:g.73198789G>A		NA	A8K116|Q494Y3|Q53T29	37	CCDS1922.1																																																																																			SFXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251991.1		-	ENST00000272433.2	Silent	SNP	2 : 73198789 - 73198789 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	257	20
C6orf118	168090	broad.mit.edu	37	6	165715758	165715758	+	Translation_Start_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165715758G>A	ENST00000230301.8	-	2	73	c.53C>T	c.(52-54)aCg>aTg	p.T18M	C6orf118_ENST00000543069.1_De_novo_Start_InFrame	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	18								p.T18M(2)		breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CACGCCTGGCGTCTCGCAGTG	0.512		NA											-	1	5e-04	NA	0.0028	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	4e-04	0.8999	LOWCOV	NA	NA	4e-04	SNP								NA				2	Substitution - Missense(2)	large_intestine(1)|prostate(1)						G	MET/THR	0,4406		0,0,2203	51	55	53		53	-2.9	0	6		53	1,8599		0,1,4299	no	missense	C6orf118	NM_144980.3	81	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	18/470	165715758	1,13005	2203	4300	6503	SO:0001583	missense				CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539	168090	168090			21233	protein-coding gene	gene with protein product					NA		Standard	NM_144980	NM_144980	NA	Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.53C>T	6.37:g.165715758G>A	ENSP00000230301:p.Thr18Met	NA	Q8TC11	37	CCDS5288.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	-	9.290	1.050372	0.19827	0.0	1.16E-4	ENSG00000112539	ENST00000230301	T	0.13089	2.62	4.36	-2.87	0.05700	.	0.749003	0.12202	N	0.490169	T	0.02156	0.0067	L	0.31065	0.9	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.43261	-0.9402	10	0.48119	T	0.1	.	1.2184	0.01918	0.4093:0.1572:0.2895:0.1439	.	18	Q5T5N4	CF118_HUMAN	M	18	ENSP00000230301:T18M	ENSP00000230301:T18M	T	-	2	0	C6orf118	165635748	0.001000	0.12720	0.010000	0.14722	0.007000	0.05969	0.098000	0.15189	-0.451000	0.07097	-0.224000	0.12420	ACG	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043026.1		-	ENST00000230301.8	Missense_Mutation	SNP	6 : 165715758 - 165715758 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	416	71
PCNT	5116	broad.mit.edu	37	21	47817955	47817955	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47817955C>T	ENST00000359568.5	+	23	4581	c.4474C>T	c.(4474-4476)Cgc>Tgc	p.R1492C	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1492					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGAGCACGAGCGCGAGGAGTT	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	18	18			NA	NA	21		NA											NA				47817955		2188	4293	6481	SO:0001583	missense			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299	5116	5116			16068	protein-coding gene	gene with protein product	kendrin, Seckel syndrome 4	605925	pericentrin 2 (kendrin)	PCNT2	NA	8812505, 9455477	Standard	NM_006031	NM_006031	NA	Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.4474C>T	21.37:g.47817955C>T	ENSP00000352572:p.Arg1492Cys	NA	O43152|Q7Z7C9	37	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098812	0.56183	.	.	ENSG00000160299	ENST00000359568	T	0.74315	-0.83	4.96	4.96	0.65561	.	0.000000	0.33005	N	0.005383	D	0.85544	0.5721	M	0.83953	2.67	0.46185	D	0.998918	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.86913	0.2062	10	0.87932	D	0	.	10.7392	0.46143	0.1895:0.8104:0.0:0.0	.	1374;1492	O95613-2;O95613	.;PCNT_HUMAN	C	1492	ENSP00000352572:R1492C	ENSP00000352572:R1492C	R	+	1	0	PCNT	46642383	1.000000	0.71417	0.914000	0.36105	0.205000	0.24178	1.539000	0.36104	2.564000	0.86499	0.561000	0.74099	CGC	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207336.1		+	ENST00000359568.5	Missense_Mutation	SNP	21 : 47817955 - 47817955 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	61	14
CTD-3222D19.2	0	broad.mit.edu	37	19	16688461	16688461	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16688461G>A	ENST00000409035.1	-	4	464	c.204C>T	c.(202-204)gtC>gtT	p.V68V	CTC-429P9.4_ENST00000593962.1_5'UTR|MED26_ENST00000263390.3_Silent_p.V60V						NA											NA						TTTTCTTGCGGACGTCGTTGA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	54	52			NA	NA	19		NA											NA				16688461		2203	4300	6503	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000409035.1:c.204C>T	19.37:g.16688461G>A		NA		37																																																																																				CTD-3222D19.2-001	KNOWN	basic|appris_principal|readthrough_transcript|exp_conf	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000461092.1		-	ENST00000409035.1	Silent	SNP	19 : 16688461 - 16688461 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	463	12
PLCG1	5335	broad.mit.edu	37	20	39802571	39802571	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:39802571G>A	ENST00000373271.1	+	30	3970	c.3565G>A	c.(3565-3567)Gca>Aca	p.A1189T	PLCG1_ENST00000608689.1_3'UTR|PLCG1_ENST00000244007.3_Missense_Mutation_p.A1189T|PLCG1_ENST00000373272.2_Missense_Mutation_p.A1189T	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	1189					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				AGGATACAGAGCAGTGCCTTT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	81	79			NA	NA	20		NA											NA				39802571		2203	4300	6503	SO:0001583	missense			M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	5335	5335	3.1.4.11	Pleckstrin homology (PH) domain containing, EF-hand domain containing, SH2 domain containing	9065	protein-coding gene	gene with protein product		172420	phospholipase C, gamma 1 (formerly subtype 148)	PLC1	NA	2167438, 3254788	Standard	NM_182811	NM_182811	NA	Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.3565G>A	20.37:g.39802571G>A	ENSP00000362368:p.Ala1189Thr	NA	B7ZLY7|B9EGH4|E1P5W4|Q2V575	37	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372330	0.42003	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.13657	2.57;2.57;2.57	5.51	5.51	0.81932	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.180410	0.49305	D	0.000154	T	0.14141	0.0342	L	0.40543	1.245	0.43088	D	0.994754	B;B;B	0.15930	0.013;0.015;0.007	B;B;B	0.16289	0.015;0.011;0.007	T	0.02333	-1.1175	10	0.54805	T	0.06	.	14.7289	0.69365	0.0:0.0:0.8545:0.1455	.	1189;1189;1189	P19174-2;P19174;A2A284	.;PLCG1_HUMAN;.	T	1189	ENSP00000244007:A1189T;ENSP00000362368:A1189T;ENSP00000362369:A1189T	ENSP00000244007:A1189T	A	+	1	0	PLCG1	39235985	0.999000	0.42202	0.999000	0.59377	0.980000	0.70556	1.859000	0.39418	2.593000	0.87608	0.455000	0.32223	GCA	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080514.3		+	ENST00000373271.1	Missense_Mutation	SNP	20 : 39802571 - 39802571 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	599	109
AHNAK2	113146	broad.mit.edu	37	14	105412916	105412916	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105412916C>T	ENST00000557457.1	-	2	24				AHNAK2_ENST00000333244.5_Missense_Mutation_p.A2958T			Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	NA						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCAGCCGTGCACCATCCAGC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													190	204	199			NA	NA	14		NA											NA				105412916		2032	4185	6217	SO:0001627	intron_variant			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567	113146	113146			20125	protein-coding gene	gene with protein product		608570	chromosome 14 open reading frame 78	C14orf78	NA	15007166	Standard	NM_138420	NM_138420	NA	Approved		uc010axc.1	Q8IVF2		ENST00000557457.1:c.220-5601G>A	14.37:g.105412916C>T		NA	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	37		.	.	.	.	.	.	.	.	.	.	c	7.167	0.586811	0.13749	.	.	ENSG00000185567	ENST00000333244	T	0.00902	5.56	1.88	-2.39	0.06602	.	.	.	.	.	T	0.00637	0.0021	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43861	-0.9365	9	0.28530	T	0.3	.	5.3304	0.15930	0.0:0.4614:0.0:0.5386	.	2958	Q8IVF2	AHNK2_HUMAN	T	2958	ENSP00000353114:A2958T	ENSP00000353114:A2958T	A	-	1	0	AHNAK2	104483961	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.434000	0.06939	-0.642000	0.05480	-0.683000	0.03753	GCA	AHNAK2-003	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000410299.1		-	ENST00000557457.1	Intron	SNP	14 : 105412916 - 105412916 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1489	370
SBNO2	22904	broad.mit.edu	37	19	1109688	1109688	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1109688G>T	ENST00000587024.1	-	27	3297	c.3087C>A	c.(3085-3087)ttC>ttA	p.F1029L	SBNO2_ENST00000438103.2_Missense_Mutation_p.F982L|SBNO2_ENST00000361757.3_Missense_Mutation_p.F1039L			Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	1039					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGACCTTGTAGAAGACCACCT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	41	39			NA	NA	19		NA											NA				1109688		1903	4115	6018	SO:0001583	missense			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932	22904	22904			29158	protein-coding gene	gene with protein product		615729	KIAA0963	KIAA0963	NA	10231032	Standard	NM_014963	NM_014963	NA	Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000587024.1:c.3087C>A	19.37:g.1109688G>T	ENSP00000468520:p.Phe1029Leu	NA	A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	37		.	.	.	.	.	.	.	.	.	.	G	1.265	-0.614791	0.03663	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	.	.	.	4.18	0.536	0.17138	.	0.115356	0.64402	N	0.000012	T	0.10337	0.0253	N	0.03029	-0.43	0.26794	N	0.969336	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.34104	-0.9842	9	0.02654	T	1	-21.3351	5.3231	0.15891	0.1923:0.1637:0.644:0.0	.	1039;982	Q9Y2G9;Q9Y2G9-3	SBNO2_HUMAN;.	L	1039;982;1057	.	ENSP00000250872:F1057L	F	-	3	2	SBNO2	1060688	0.830000	0.29337	1.000000	0.80357	0.602000	0.36980	-0.159000	0.10056	0.201000	0.20466	-0.379000	0.06801	TTC	SBNO2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000458060.1		-	ENST00000587024.1	Missense_Mutation	SNP	19 : 1109688 - 1109688 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	248	20
FAM53C	51307	broad.mit.edu	37	5	137681012	137681012	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137681012G>A	ENST00000239906.5	+	4	1063	c.635G>A	c.(634-636)aGt>aAt	p.S212N	FAM53C_ENST00000434981.2_Missense_Mutation_p.S212N|FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000507506.1_3'UTR	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	212										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCCCCTCAAAGTGGCTCCTGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	157	151			NA	NA	5		NA											NA				137681012		2203	4300	6503	SO:0001583	missense			AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709	51307	51307			1336	protein-coding gene	gene with protein product		609372	chromosome 5 open reading frame 6	C5orf6	NA	11087669, 11161817	Standard	NM_016605	NM_001135647	NA	Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.635G>A	5.37:g.137681012G>A	ENSP00000239906:p.Ser212Asn	NA	B2RDJ5|D3DQB9	37	CCDS4204.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185991	0.78789	.	.	ENSG00000120709	ENST00000434981;ENST00000239906	T;T	0.47177	0.85;0.85	5.55	4.68	0.58851	.	0.257713	0.45126	N	0.000392	T	0.65698	0.2716	M	0.72353	2.195	0.80722	D	1	D	0.54772	0.968	D	0.70487	0.969	T	0.66893	-0.5808	9	.	.	.	-1.3068	13.3265	0.60463	0.0768:0.0:0.9232:0.0	.	212	Q9NYF3	FA53C_HUMAN	N	212	ENSP00000403705:S212N;ENSP00000239906:S212N	.	S	+	2	0	FAM53C	137708911	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.416000	0.44644	1.575000	0.49775	0.655000	0.94253	AGT	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251278.2		+	ENST00000239906.5	Missense_Mutation	SNP	5 : 137681012 - 137681012 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1395	270
HNRNPM	4670	broad.mit.edu	37	19	8551214	8551214	+	Silent	SNP	C	C	T	rs143994714		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8551214C>T	ENST00000348943.3	+	15	2017	c.1785C>T	c.(1783-1785)ttC>ttT	p.F595F	HNRNPM_ENST00000325495.4_Silent_p.F634F	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	634	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GAGGAAGCTTCGCAGGTTCCT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	45	44			NA	NA	19		NA											NA				8551214		2203	4300	6503	SO:0001819	synonymous_variant			L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783	4670	4670		RNA binding motif (RRM) containing	5046	protein-coding gene	gene with protein product	CEA receptor	160994		NAGR1, HNRPM	NA	8441656, 7558047	Standard		NM_005968	NA	Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000348943.3:c.1785C>T	19.37:g.8551214C>T		NA	Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	37	CCDS12204.1																																																																																			HNRNPM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460893.2		+	ENST00000348943.3	Silent	SNP	19 : 8551214 - 8551214 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	383	40
PARP14	54625	broad.mit.edu	37	3	122420074	122420074	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122420074G>A	ENST00000474629.2	+	6	2939	c.2673G>A	c.(2671-2673)ccG>ccA	p.P891P		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	891	Macro 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		ATGAGGCCCCGAGGTGTGTGT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,3864		0,0,1932	38	36	37		2673	0.1	0	3		37	1,8257		0,1,4128	no	coding-synonymous	PARP14	NM_017554.2		0,1,6060	AA,AG,GG	NA	0.0121,0.0,0.0082		891/1802	122420074	1,12121	1932	4129	6061	SO:0001819	synonymous_variant			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193	54625	54625		Poly (ADP-ribose) polymerases	29232	protein-coding gene	gene with protein product		610028			NA	15273990	Standard	NM_017554	NM_017554	NA	Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.2673G>A	3.37:g.122420074G>A		NA	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	37	CCDS46894.1																																																																																			PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356173.2		+	ENST00000474629.2	Silent	SNP	3 : 122420074 - 122420074 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	121	21
PLA2G4E	123745	broad.mit.edu	37	15	42285034	42285034	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42285034G>A	ENST00000399518.3	-	13	1857	c.1371C>T	c.(1369-1371)cgC>cgT	p.R457R	CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Silent_p.R428R	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	445	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		CCTGGAATTTGCGGAGCTGGT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	51	51			NA	NA	15		NA											NA				42285034		1930	4144	6074	SO:0001819	synonymous_variant				CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	123745	123745	3.1.1.4		24791	protein-coding gene	gene with protein product					NA	15866882	Standard	NM_198442	NM_001206670	NA	Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000399518.3:c.1371C>T	15.37:g.42285034G>A		NA	Q6ZSC0	37	CCDS55962.1																																																																																			PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252738.2		-	ENST00000399518.3	Silent	SNP	15 : 42285034 - 42285034 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	304	52
PLXNA4	91584	broad.mit.edu	37	7	131859635	131859635	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131859635G>T	ENST00000359827.3	-	21	4881	c.3919C>A	c.(3919-3921)Ctg>Atg	p.L1307M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.L1307M			Q9HCM2	PLXA4_HUMAN	plexin A4	1307						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCTCCATCCAGGTCACTGGTC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	105	102			NA	NA	7		NA											NA				131859635		2167	4293	6460	SO:0001583	missense			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866	91584	91584		Plexins	9102	protein-coding gene	gene with protein product		604280	plexin A4, A, plexin A4, B	PLXNA4A, PLXNA4B	NA		Standard	NM_181775	NM_181775	NA	Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3919C>A	7.37:g.131859635G>T	ENSP00000352882:p.Leu1307Met	NA	Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019699	0.54576	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.01295	5.04;5.04	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.03434	0.0099	L	0.42581	1.335	0.80722	D	1	P	0.51933	0.949	P	0.53401	0.725	T	0.57171	-0.7857	10	0.46703	T	0.11	.	12.8721	0.57970	0.0743:0.0:0.9257:0.0	.	1307	Q9HCM2	PLXA4_HUMAN	M	1307	ENSP00000323194:L1307M;ENSP00000352882:L1307M	ENSP00000323194:L1307M	L	-	1	2	PLXNA4	131510175	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.289000	0.43523	2.643000	0.89663	0.655000	0.94253	CTG	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000338422.2		-	ENST00000359827.3	Missense_Mutation	SNP	7 : 131859635 - 131859635 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	638	80
RGS12	6002	broad.mit.edu	37	4	3441290	3441290	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3441290C>A	ENST00000344733.5	+	18	5127	c.4223C>A	c.(4222-4224)gCt>gAt	p.A1408D	RGS12_ENST00000338806.4_Missense_Mutation_p.A760D	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1408						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGGGCACAGGCTGGCCCTGGG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	34	35			NA	NA	4		NA											NA				3441290		2201	4295	6496	SO:0001583	missense			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788	6002	6002		Regulators of G-protein signaling	9994	protein-coding gene	gene with protein product		602512	regulator of G-protein signalling 12		NA	9651375	Standard	NM_002926	NM_198229	NA	Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.4223C>A	4.37:g.3441290C>A	ENSP00000339381:p.Ala1408Asp	NA	B1AQ30|B1AQ31|B1AQ32|O14922|O14923|O43510|O75338	37	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.453747	0.26161	.	.	ENSG00000159788	ENST00000344733;ENST00000338806	T;T	0.34859	1.64;1.34	2.59	1.24	0.21308	.	2.890200	0.02424	U	0.082860	T	0.25382	0.0617	N	0.14661	0.345	0.09310	N	1	B;B;B	0.27700	0.16;0.186;0.18	B;B;B	0.32533	0.06;0.147;0.07	T	0.26467	-1.0102	10	0.49607	T	0.09	-0.0458	4.2025	0.10473	0.0:0.699:0.0:0.301	.	750;760;1408	O14924-2;O14924-3;O14924	.;.;RGS12_HUMAN	D	1408;760	ENSP00000339381:A1408D;ENSP00000342133:A760D	ENSP00000342133:A760D	A	+	2	0	RGS12	3411088	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.755000	0.04782	0.327000	0.23409	0.462000	0.41574	GCT	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206602.1		+	ENST00000344733.5	Missense_Mutation	SNP	4 : 3441290 - 3441290 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	301	48
KIAA0355	9710	broad.mit.edu	37	19	34791678	34791678	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34791678C>A	ENST00000299505.6	+	2	1173	c.300C>A	c.(298-300)ctC>ctA	p.L100L		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	100										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					TCACAGATCTCTTCAGCACTG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	62	66			NA	NA	19		NA											NA				34791678		2203	4300	6503	SO:0001819	synonymous_variant				CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398	9710	9710			29016	protein-coding gene	gene with protein product					NA	9205841	Standard	NM_014686	NM_014686	NA	Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.300C>A	19.37:g.34791678C>A		NA	Q2M3W4	37	CCDS12436.1																																																																																			KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451678.4		+	ENST00000299505.6	Silent	SNP	19 : 34791678 - 34791678 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	81
KANSL1	284058	broad.mit.edu	37	17	44108967	44108967	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44108967G>A	ENST00000575318.1	-	13	3034	c.3001C>T	c.(3001-3003)Cga>Tga	p.R1001*	KANSL1_ENST00000262419.6_Nonsense_Mutation_p.R1065*|KANSL1_ENST00000572904.1_Nonsense_Mutation_p.R1065*|KANSL1_ENST00000393476.3_Nonsense_Mutation_p.R359*|KANSL1_ENST00000432791.1_Nonsense_Mutation_p.R1065*|KANSL1_ENST00000574590.1_Nonsense_Mutation_p.R1065*			Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	1065						MLL1 complex	protein binding				NA						GAGGTGCGTCGAGTGCAGCGG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	33	34			NA	NA	17		NA											NA				44108967		2203	4298	6501	SO:0001587	stop_gained			BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071	284058	284058			24565	protein-coding gene	gene with protein product	centromere protein 36	612452	KIAA1267	KIAA1267	NA	10574462	Standard	NM_015443	NM_015443	NA	Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000575318.1:c.3001C>T	17.37:g.44108967G>A	ENSP00000461299:p.Arg1001*	NA	A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	37		.	.	.	.	.	.	.	.	.	.	G	54	22.730023	0.99950	.	.	ENSG00000120071	ENST00000262419;ENST00000432791;ENST00000393476	.	.	.	5.54	5.54	0.83059	.	0.071575	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.0141	18.0627	0.89382	0.0:0.0:1.0:0.0	.	.	.	.	X	1065;1065;359	.	ENSP00000262419:R1065X	R	-	1	2	KIAA1267	41464814	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.158000	0.77470	2.604000	0.88044	0.561000	0.74099	CGA	KANSL1-006	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000440272.1		-	ENST00000575318.1	Nonsense_Mutation	SNP	17 : 44108967 - 44108967 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	256	47
ADCY6	112	broad.mit.edu	37	12	49170893	49170893	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49170893G>A	ENST00000307885.4	-	5	2064	c.1370C>T	c.(1369-1371)gCc>gTc	p.A457V	ADCY6_ENST00000550422.1_Missense_Mutation_p.A457V|ADCY6_ENST00000357869.3_Missense_Mutation_p.A457V	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	457					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TTACGAGATGGCCTCAATCAT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													170	157	161			NA	NA	12		NA											NA				49170893		2203	4300	6503	SO:0001583	missense				CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	112	112	4.6.1.1	Adenylate cyclases	237	protein-coding gene	gene with protein product		600294			NA		Standard	NM_020983	NM_015270	NA	Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.1370C>T	12.37:g.49170893G>A	ENSP00000311405:p.Ala457Val	NA	Q9NR75|Q9UDB0	37	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878374	0.91740	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	D;D;D	0.81739	-1.53;-1.53;-1.53	4.43	4.43	0.53597	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000001	D	0.87541	0.6203	L	0.60067	1.865	0.80722	D	1	D;D	0.89917	0.992;1.0	D;D	0.81914	0.909;0.995	D	0.88938	0.3378	10	0.87932	D	0	.	16.3463	0.83134	0.0:0.0:1.0:0.0	.	457;457	O43306-2;O43306	.;ADCY6_HUMAN	V	457	ENSP00000350536:A457V;ENSP00000446730:A457V;ENSP00000311405:A457V	ENSP00000311405:A457V	A	-	2	0	ADCY6	47457160	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.657000	0.98554	2.451000	0.82905	0.561000	0.74099	GCC	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408863.1		-	ENST00000307885.4	Missense_Mutation	SNP	12 : 49170893 - 49170893 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1111	250
STEAP2	261729	broad.mit.edu	37	7	89861714	89861714	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:89861714C>T	ENST00000394632.1	+	5	1354				STEAP2_ENST00000394622.2_Nonsense_Mutation_p.R417*|STEAP2_ENST00000394629.2_Nonsense_Mutation_p.R417*|STEAP2_ENST00000394621.2_Nonsense_Mutation_p.R417*|STEAP2_ENST00000402625.2_Intron|STEAP2_ENST00000394626.1_Nonsense_Mutation_p.R417*|STEAP2_ENST00000287908.3_Nonsense_Mutation_p.R417*	NM_001244946.1	NP_001231875.1	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	NA					electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TGGATGGAAACGAGCTTTTGA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	106	108			NA	NA	7		NA											NA				89861714		2203	4300	6503	SO:0001627	intron_variant			AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214	261729	261729			17885	protein-coding gene	gene with protein product		605094	prostate cancer associated protein 1, six transmembrane epithelial antigen of the prostate 2	PCANAP1	NA	10613842, 12095985	Standard	NM_152999	NM_001040665	NA	Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000394632.1:c.1185+2364C>T	7.37:g.89861714C>T		NA	A4D1F1|Q6UXN6|Q8IUE7	37	CCDS59064.1	.	.	.	.	.	.	.	.	.	.	C	37	6.249134	0.97412	.	.	ENSG00000157214	ENST00000287908;ENST00000394626;ENST00000394622;ENST00000394624;ENST00000394621;ENST00000394629	.	.	.	5.77	3.79	0.43588	.	0.059090	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.0958	13.5431	0.61686	0.3917:0.6083:0.0:0.0	.	.	.	.	X	417	.	ENSP00000287908:R417X	R	+	1	2	STEAP2	89699650	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	3.770000	0.55310	1.433000	0.47394	0.644000	0.83932	CGA	STEAP2-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000139683.1		+	ENST00000394632.1	Intron	SNP	7 : 89861714 - 89861714 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	145	28
PRAMEF12	390999	broad.mit.edu	37	1	12835753	12835753	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12835753G>T	ENST00000357726.4	+	2	382	c.355G>T	c.(355-357)Gct>Tct	p.A119S		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	119										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATGGTCTGGAGCTTCTGCACT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	152	146			NA	NA	1		NA											NA				12835753		2166	4291	6457	SO:0001583	missense				CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726	390999	390999		-	22125	protein-coding gene	gene with protein product					NA		Standard	XM_372760	NM_001080830	NA	Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.355G>T	1.37:g.12835753G>T	ENSP00000350358:p.Ala119Ser	NA		37	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	8.614	0.889750	0.17540	.	.	ENSG00000116726	ENST00000357726	T	0.17213	2.29	2.8	-2.5	0.06384	.	3.019180	0.01114	N	0.005651	T	0.22704	0.0548	L	0.42581	1.335	0.09310	N	1	D	0.54207	0.965	P	0.54664	0.758	T	0.38887	-0.9640	10	0.10111	T	0.7	.	7.5906	0.28019	0.6577:0.0:0.3423:0.0	.	119	O95522	PRA12_HUMAN	S	119	ENSP00000350358:A119S	ENSP00000350358:A119S	A	+	1	0	PRAMEF12	12758340	0.001000	0.12720	0.001000	0.08648	0.166000	0.22503	-0.190000	0.09615	-0.686000	0.05170	-0.657000	0.03884	GCT	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005457.1		+	ENST00000357726.4	Missense_Mutation	SNP	1 : 12835753 - 12835753 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1022	203
DNAJC6	9829	broad.mit.edu	37	1	65855062	65855062	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65855062C>T	ENST00000395325.3	+	10	1303	c.1146C>T	c.(1144-1146)tgC>tgT	p.C382C	DNAJC6_ENST00000263441.7_Silent_p.C369C|DNAJC6_ENST00000371069.4_Silent_p.C439C	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	382					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						AACATTACTGCACAAAAGATG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	125	131			NA	NA	1		NA											NA				65855062		2203	4300	6503	SO:0001819	synonymous_variant			AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675	9829	9829		Heat shock proteins / DNAJ (HSP40)	15469	protein-coding gene	gene with protein product	auxilin	608375			NA	9455484, 11147971	Standard		NM_001256864	NA	Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.1146C>T	1.37:g.65855062C>T		NA	D3DQ65|Q32M66|Q4G0K1|Q5T614|Q5T615	37	CCDS30739.1																																																																																			DNAJC6-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025134.1		+	ENST00000395325.3	Silent	SNP	1 : 65855062 - 65855062 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	376	67
LRRIQ3	127255	broad.mit.edu	37	1	74648414	74648414	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:74648414G>A	ENST00000370911.3	-	3	532	c.381C>T	c.(379-381)ctC>ctT	p.L127L	LRRIQ3_ENST00000354431.4_Silent_p.L127L|LRRIQ3_ENST00000370909.2_Intron|LRRIQ3_ENST00000395089.1_Silent_p.L127L			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	127										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CAAACATAGTGAGGGCAATGA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	98	100			NA	NA	1		NA											NA				74648414		2203	4299	6502	SO:0001819	synonymous_variant			BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620	127255	127255			28318	protein-coding gene	gene with protein product			leucine rich repeat containing 44	LRRC44	NA	12477932	Standard	NM_145258	NM_001105659	NA	Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000370911.3:c.381C>T	1.37:g.74648414G>A		NA	A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	37																																																																																				LRRIQ3-001	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000026275.1		-	ENST00000370911.3	Silent	SNP	1 : 74648414 - 74648414 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	392	34
VWC2	375567	broad.mit.edu	37	7	49842318	49842318	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:49842318C>T	ENST00000340652.4	+	3	1264	c.708C>T	c.(706-708)tgC>tgT	p.C236C		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	NA	VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						TGTCTCCATGCGAGAGGTGTC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	235	190	205		708	-2.6	0.9	7		205	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	VWC2	NM_198570.3		0,3,6500	TT,TC,CC	NA	0.0349,0.0,0.0231		236/326	49842318	3,13003	2203	4300	6503	SO:0001819	synonymous_variant			AY358393	CCDS5508.1	7p12.3-p12.2	2007-07-19			ENSG00000188730	ENSG00000188730	375567	375567			30200	protein-coding gene	gene with protein product	brorin, brain-specific chordin-like	611108			NA	17400546	Standard	NM_198570	NM_198570	NA	Approved	PSST739, UNQ739	uc003tot.1	Q2TAL6	OTTHUMG00000129265	ENST00000340652.4:c.708C>T	7.37:g.49842318C>T		NA	Q6UXE2	37	CCDS5508.1																																																																																			VWC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251375.2		+	ENST00000340652.4	Silent	SNP	7 : 49842318 - 49842318 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	557	118
PLXNA2	5362	broad.mit.edu	37	1	208257763	208257763	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208257763G>A	ENST00000367033.3	-	10	3017	c.2260C>T	c.(2260-2262)Cgc>Tgc	p.R754C		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	754					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTGTTGAAGCGCAGAGCGGGG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/ARG	0,4406		0,0,2203	64	70	68		2260	5.7	1	1		68	1,8599	1.2+/-3.3	0,1,4299	no	missense	PLXNA2	NM_025179.3	180	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	754/1895	208257763	1,13005	2203	4300	6503	SO:0001583	missense			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356	5362	5362		Plexins	9100	protein-coding gene	gene with protein product	plexin 2, plexin-A2, semaphorin receptor OCT, transmembrane protein OCT	601054		PLXN2	NA	8570614	Standard	NM_025179	NM_025179	NA	Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.2260C>T	1.37:g.208257763G>A	ENSP00000356000:p.Arg754Cys	NA	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	37	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856472	0.91355	0.0	1.16E-4	ENSG00000076356	ENST00000367033	T	0.01025	5.43	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.08044	0.0201	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.65443	0.935	T	0.01087	-1.1456	10	0.56958	D	0.05	.	19.8253	0.96616	0.0:0.0:1.0:0.0	.	754	O75051	PLXA2_HUMAN	C	754	ENSP00000356000:R754C	ENSP00000356000:R754C	R	-	1	0	PLXNA2	206324386	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.527000	0.81931	2.676000	0.91093	0.650000	0.86243	CGC	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088932.6		-	ENST00000367033.3	Missense_Mutation	SNP	1 : 208257763 - 208257763 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	554	141
PDXK	8566	broad.mit.edu	37	21	45173522	45173522	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45173522C>T	ENST00000291565.4	+	9	864	c.681C>T	c.(679-681)gaC>gaT	p.D227D	PDXK_ENST00000468090.1_Silent_p.D199D|PDXK_ENST00000467908.1_Silent_p.D187D	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	227					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	GCAAAGTGGACGCCGTCTTTG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								T		1,4405	2.1+/-5.4	0,1,2202	212	161	178		681	-4.8	0.6	21		178	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PDXK	NM_003681.4		0,2,6501	TT,TC,CC	NA	0.0116,0.0227,0.0154		227/313	45173522	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			U89606	CCDS13699.1	21q22.3	2007-05-10			ENSG00000160209	ENSG00000160209	8566	8566	2.7.1.35		8819	protein-coding gene	gene with protein product		179020	chromosome 21 open reading frame 97, chromosome 21 open reading frame 124	C21orf97, C21orf124	NA	9099727	Standard	NM_003681	NM_003681	NA	Approved	PNK, PKH, FLJ21324, PRED79, FLJ31940, MGC15873	uc002zdm.4	O00764	OTTHUMG00000086870	ENST00000291565.4:c.681C>T	21.37:g.45173522C>T		NA	Q7Z2Y0|Q9BS02	37	CCDS13699.1																																																																																			PDXK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195636.1		+	ENST00000291565.4	Silent	SNP	21 : 45173522 - 45173522 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	29
CCDC73	493860	broad.mit.edu	37	11	32635356	32635356	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32635356C>A	ENST00000335185.5	-	16	2551	c.2508G>T	c.(2506-2508)caG>caT	p.Q836H		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	836										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					ACAATGTATGCTGTCTTTCAT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	128	132			NA	NA	11		NA											NA				32635356		1830	4087	5917	SO:0001583	missense			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714	493860	493860			23261	protein-coding gene	gene with protein product		612328			NA		Standard	NM_001008391	NM_001008391	NA	Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.2508G>T	11.37:g.32635356C>A	ENSP00000335325:p.Gln836His	NA	Q6P5Q7|Q6ZMW0|Q86WE7	37	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569548	0.45798	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.64	1.16	0.20824	.	0.698226	0.13701	N	0.368828	T	0.32376	0.0827	L	0.59436	1.845	0.09310	N	1	B	0.25743	0.133	B	0.21917	0.037	T	0.39313	-0.9620	9	0.72032	D	0.01	.	1.192	0.01867	0.179:0.424:0.1191:0.278	.	836	Q6ZRK6	CCD73_HUMAN	H	836	.	ENSP00000335325:Q836H	Q	-	3	2	CCDC73	32591932	0.765000	0.28485	0.111000	0.21465	0.987000	0.75469	0.274000	0.18680	-0.055000	0.13244	0.650000	0.86243	CAG	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388874.2		-	ENST00000335185.5	Missense_Mutation	SNP	11 : 32635356 - 32635356 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	701	122
BMP4	652	broad.mit.edu	37	14	54417408	54417408	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:54417408A>G	ENST00000245451.4	-	4	962	c.569T>C	c.(568-570)gTg>gCg	p.V190A	BMP4_ENST00000558984.1_Missense_Mutation_p.V190A|BMP4_ENST00000417573.1_Missense_Mutation_p.V190A|BMP4_ENST00000559087.1_Missense_Mutation_p.V190A	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	190					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						CCCAGGCACCACTTCTGCTGG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	64	65			NA	NA	14		NA											NA				54417408		2203	4300	6503	SO:0001583	missense			AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378	652	652		Bone morphogenetic proteins, Endogenous ligands	1071	protein-coding gene	gene with protein product		112262		BMP2B	NA	7558046, 7579580	Standard	NM_001202	NM_001202	NA	Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.569T>C	14.37:g.54417408A>G	ENSP00000245451:p.Val190Ala	NA	Q9UM80	37	CCDS9715.1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.642132	0.00799	.	.	ENSG00000125378	ENST00000245451;ENST00000417573	T;T	0.71103	-0.54;-0.54	5.2	-1.61	0.08399	Transforming growth factor-beta, N-terminal (1);	1.161200	0.06292	N	0.699329	T	0.44307	0.1287	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22382	-1.0218	10	0.12430	T	0.62	.	5.6727	0.17731	0.3354:0.1821:0.4825:0.0	.	190	P12644	BMP4_HUMAN	A	190	ENSP00000245451:V190A;ENSP00000394165:V190A	ENSP00000245451:V190A	V	-	2	0	BMP4	53487158	0.002000	0.14202	0.783000	0.31826	0.852000	0.48524	-0.047000	0.11963	-0.143000	0.11334	-0.408000	0.06270	GTG	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276894.2		-	ENST00000245451.4	Missense_Mutation	SNP	14 : 54417408 - 54417408 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	304	77
DDX39B	7919	broad.mit.edu	37	6	31499109	31499109	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31499109G>A	ENST00000396172.1	-	8	1571	c.941C>T	c.(940-942)gCc>gTc	p.A314V	DDX39B_ENST00000376177.2_Missense_Mutation_p.A314V|DDX39B_ENST00000415382.2_Missense_Mutation_p.A236V|DDX39B_ENST00000458640.1_Missense_Mutation_p.A314V|DDX39B_ENST00000417556.2_Missense_Mutation_p.A329V|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	314	Helicase C-terminal.				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GATGGCAATGGCTGGGAAGTT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	75	77			NA	NA	6		NA											NA				31499109		2203	4300	6503	SO:0001583	missense			Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563	7919	7919		DEAD-boxes	13917	protein-coding gene	gene with protein product	U2AF65-associated protein 56	142560	HLA-B associated transcript 1	BAT1	NA	7601445, 2813433	Standard	NM_004640	NM_004640	NA	Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.941C>T	6.37:g.31499109G>A	ENSP00000379475:p.Ala314Val	NA	B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	37	CCDS4697.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.115970|5.115970	0.94339|0.94339	.|.	.|.	ENSG00000198563|ENSG00000198563	ENST00000376177;ENST00000458640;ENST00000396172;ENST00000417556;ENST00000415382;ENST00000431908|ENST00000417023	T;T;T;T;T;T|.	0.74526|.	-0.85;-0.85;-0.85;-0.85;-0.85;3.64|.	5.55|5.55	5.55|5.55	0.83447|0.83447	Helicase, C-terminal (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.39332|0.39332	0.1074|0.1074	N|N	0.16833|0.16833	0.445|0.445	0.80722|0.80722	D|D	1|1	D;D;P;D;D|.	0.89917|.	0.961;0.999;0.798;1.0;0.999|.	P;D;B;D;D|.	0.72075|.	0.599;0.927;0.143;0.976;0.927|.	T|T	0.24657|0.24657	-1.0154|-1.0154	10|5	0.06365|.	T|.	0.9|.	-15.1038|-15.1038	17.0466|17.0466	0.86505|0.86505	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	236;314;314;329;213|.	B4DP52;Q13838;Q5STU3;F8VQ10;B0V2L1|.	.;DX39B_HUMAN;.;.;.|.	V|S	314;314;314;329;236;236|78	ENSP00000365347:A314V;ENSP00000416269:A314V;ENSP00000379475:A314V;ENSP00000412582:A329V;ENSP00000392669:A236V;ENSP00000408000:A236V|.	ENSP00000365347:A314V|.	A|P	-|-	2|1	0|0	DDX39B|DDX39B	31607088|31607088	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	8.873000|8.873000	0.92357|0.92357	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GCC|CCA	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000259083.1		-	ENST00000396172.1	Missense_Mutation	SNP	6 : 31499109 - 31499109 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	495	21
SLX4	84464	broad.mit.edu	37	16	3640459	3640459	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3640459C>T	ENST00000294008.3	-	12	3820	c.3180G>A	c.(3178-3180)cgG>cgA	p.R1060R		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1060	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CGCCACGGGACCGGGGTGTTG	0.632		NA						Direct reversal of damage						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	93	89			NA	NA	16		NA											NA				3640459		2197	4300	6497	SO:0001819	synonymous_variant			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827	84464	84464		Fanconi anemia, complementation groups, BTB/POZ domain containing	23845	protein-coding gene	gene with protein product	Fanconi anemia, complementation group P	613278	BTB (POZ) domain containing 12, SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)	BTBD12	NA	11347906, 19595721	Standard	NM_032444	NM_032444	NA	Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.3180G>A	16.37:g.3640459C>T		NA	Q69YT8|Q8TF15|Q96JP1	37	CCDS10506.2																																																																																			SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157301.3		-	ENST00000294008.3	Silent	SNP	16 : 3640459 - 3640459 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	942	188
PRUNE2	158471	broad.mit.edu	37	9	79322428	79322428	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79322428T>C	ENST00000376718.3	-	8	4885	c.4762A>G	c.(4762-4764)Acc>Gcc	p.T1588A	PRUNE2_ENST00000428286.1_Missense_Mutation_p.T1229A	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1588					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CCATCAGTGGTAATTAGTTCA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	95	100			NA	NA	9		NA											NA				79322428		1568	3582	5150	SO:0001583	missense			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772	158471	158471			25209	protein-coding gene	gene with protein product	olfaxin	610691	chromosome 9 open reading frame 65, KIAA0367	C9orf65, KIAA0367	NA	16288218	Standard	NM_138818	NM_015225	NA	Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.4762A>G	9.37:g.79322428T>C	ENSP00000365908:p.Thr1588Ala	NA	B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	37	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.68|10.68	1.419074|1.419074	0.25552|0.25552	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.44482|.	0.92;0.92|.	5.91|5.91	-1.37|-1.37	0.09056|0.09056	.|.	0.794342|.	0.11320|.	N|.	0.576108|.	T|T	0.36853|0.36853	0.0982|0.0982	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	B|.	0.26120|.	0.142|.	B|.	0.20184|.	0.028|.	T|T	0.37174|0.37174	-0.9717|-0.9717	10|5	0.66056|.	D|.	0.02|.	-1.2138|-1.2138	2.5599|2.5599	0.04769|0.04769	0.3516:0.0676:0.1234:0.4574|0.3516:0.0676:0.1234:0.4574	.|.	1588|.	Q8WUY3|.	PRUN2_HUMAN|.	A|C	1588;1229;1587|909	ENSP00000365908:T1588A;ENSP00000397425:T1229A|.	ENSP00000365908:T1588A|.	T|Y	-|-	1|2	0|0	PRUNE2|PRUNE2	78512248|78512248	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.860000|0.860000	0.49131|0.49131	-0.367000|-0.367000	0.07553|0.07553	0.123000|0.123000	0.18342|0.18342	-0.333000|-0.333000	0.08304|0.08304	ACC|TAC	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052730.2		-	ENST00000376718.3	Missense_Mutation	SNP	9 : 79322428 - 79322428 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	262	12
MBD5	55777	broad.mit.edu	37	2	149248116	149248116	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149248116G>T	ENST00000407073.1	+	12	5213	c.4216G>T	c.(4216-4218)Gaa>Taa	p.E1406*	MBD5_ENST00000404807.1_Nonsense_Mutation_p.E1639*	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1406	PWWP.					chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ATTAGTAAGAGAAGACGACGT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	73	74			NA	NA	2		NA											NA				149248116		2203	4300	6503	SO:0001587	stop_gained			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406	NA	55777			20444	protein-coding gene	gene with protein product		611472			NA	12529184	Standard		NM_018328	NA	Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.4216G>T	2.37:g.149248116G>T	ENSP00000386049:p.Glu1406*	NA	A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	37	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	G	50	17.259051	0.99882	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	.	.	.	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-9.1386	20.0628	0.97684	0.0:0.0:1.0:0.0	.	.	.	.	X	1406;1639	.	ENSP00000384672:E1639X	E	+	1	0	MBD5	148964586	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.195000	0.94971	2.745000	0.94114	0.655000	0.94253	GAA	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318111.2		+	ENST00000407073.1	Nonsense_Mutation	SNP	2 : 149248116 - 149248116 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	419	30
SRMS	6725	broad.mit.edu	37	20	62172627	62172627	+	Missense_Mutation	SNP	C	C	T	rs139360881	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62172627C>T	ENST00000217188.1	-	7	1242	c.1202G>A	c.(1201-1203)cGt>cAt	p.R401H		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	401	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GGAGAAGACACGATAATTGGC	0.617		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	108	115	113		1202	1.8	0	20	dbSNP_134	113	1,8599	1.2+/-3.3	0,1,4299	no	missense	SRMS	NM_080823.2	29	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign	401/489	62172627	1,13005	2203	4300	6503	SO:0001583	missense				CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508	6725	6725		SH2 domain containing	11298	protein-coding gene	gene with protein product			chromosome 20 open reading frame 148	C20orf148	NA	7935409	Standard	NM_080823	NM_080823	NA	Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.1202G>A	20.37:g.62172627C>T	ENSP00000217188:p.Arg401His	NA		37	CCDS13525.1	.	.	.	.	.	.	.	.	.	.	C	6.959	0.546856	0.13312	0.0	1.16E-4	ENSG00000125508	ENST00000217188	D	0.83075	-1.68	4.83	1.78	0.24846	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.386473	0.21692	N	0.070556	T	0.74816	0.3766	L	0.42245	1.32	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.65401	-0.6177	10	0.66056	D	0.02	.	9.3378	0.38060	0.0:0.6934:0.0:0.3066	.	401	Q9H3Y6	SRMS_HUMAN	H	401	ENSP00000217188:R401H	ENSP00000217188:R401H	R	-	2	0	SRMS	61643071	0.034000	0.19679	0.000000	0.03702	0.007000	0.05969	0.815000	0.27253	0.193000	0.20303	-0.263000	0.10527	CGT	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080148.1		-	ENST00000217188.1	Missense_Mutation	SNP	20 : 62172627 - 62172627 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1045	176
C8orf58	541565	broad.mit.edu	37	8	22458661	22458661	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22458661G>A	ENST00000453427.2	+	0	894				C8orf58_ENST00000409586.3_Missense_Mutation_p.A103T|C8orf58_ENST00000289989.5_Missense_Mutation_p.A103T			Q8NAV2	CH058_HUMAN	chromosome 8 open reading frame 58	NA										endometrium(1)|lung(1)|ovary(1)|skin(1)	4		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TGAGCCCCCCGCCCAGGTAGG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	16	15			NA	NA	8		NA											NA				22458661		2178	4294	6472	SO:0001624	3_prime_UTR_variant			BC012750	CCDS34862.1, CCDS56527.1, CCDS75708.1	8p21.3	2010-08-17			ENSG00000241852	ENSG00000241852	541565	541565			32233	protein-coding gene	gene with protein product					NA		Standard	NM_001013842	NM_001013842	NA	Approved	FLJ34715	uc003xce.3	Q8NAV2	OTTHUMG00000154160	ENST00000453427.2:c.*891G>A	8.37:g.22458661G>A		NA	B4DI44	37		.	.	.	.	.	.	.	.	.	.	g	11.82	1.753780	0.31046	.	.	ENSG00000248235;ENSG00000241852;ENSG00000241852;ENSG00000241852	ENST00000450780;ENST00000409586;ENST00000289989;ENST00000381191	.	.	.	3.91	1.93	0.25924	.	0.507370	0.16623	N	0.206407	T	0.33381	0.0861	M	0.63428	1.95	0.09310	N	1	P;D;P	0.62365	0.951;0.991;0.951	B;P;B	0.44518	0.32;0.452;0.32	T	0.26360	-1.0105	9	0.72032	D	0.01	-4.5702	5.0944	0.14725	0.1185:0.2122:0.6693:0.0	.	103;31;103	Q8NAV2-2;E7EQH9;Q8NAV2	.;.;CH058_HUMAN	T	172;103;103;31	.	ENSP00000399696:A172T	A	+	1	0	AC037459.4;C8orf58	22514606	0.001000	0.12720	0.004000	0.12327	0.002000	0.02628	0.336000	0.19823	0.993000	0.38866	-0.406000	0.06334	GCC	C8orf58-003	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000334185.3		+	ENST00000453427.2	3'UTR	SNP	8 : 22458661 - 22458661 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	136	25
ASPM	259266	broad.mit.edu	37	1	197097665	197097665	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197097665G>A	ENST00000367409.4	-	10	3147	c.2891C>T	c.(2890-2892)gCc>gTc	p.A964V	ASPM_ENST00000294732.7_Missense_Mutation_p.A964V|ASPM_ENST00000367408.1_Missense_Mutation_p.A214V	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	964	CH 1.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATTTGTAACGGCAAAATCAAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	113	115			NA	NA	1		NA											NA				197097665		2203	4300	6503	SO:0001583	missense			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279	259266	259266			19048	protein-coding gene	gene with protein product		605481	microcephaly, primary autosomal recessive 5, asp (abnormal spindle)-like, microcephaly associated (Drosophila)	MCPH5	NA	11078481	Standard	NM_018136	NM_018136	NA	Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.2891C>T	1.37:g.197097665G>A	ENSP00000356379:p.Ala964Val	NA	Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	36	5.643470	0.96704	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.59224	0.28;0.28;0.28	5.77	5.77	0.91146	Calponin homology domain (4);	0.076806	0.53938	D	0.000049	T	0.75824	0.3902	M	0.63169	1.94	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.87578	0.859;0.998	T	0.75513	-0.3291	10	0.66056	D	0.02	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	964;964	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	V	964;964;214	ENSP00000356379:A964V;ENSP00000294732:A964V;ENSP00000356378:A214V	ENSP00000294732:A964V	A	-	2	0	ASPM	195364288	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.311000	0.96282	2.885000	0.99019	0.655000	0.94253	GCC	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088256.1		-	ENST00000367409.4	Missense_Mutation	SNP	1 : 197097665 - 197097665 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	599	106
KIAA1244	57221	broad.mit.edu	37	6	138656299	138656299	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138656299G>T	ENST00000251691.4	+	33	6482	c.6316G>T	c.(6316-6318)Gtg>Ttg	p.V2106L		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	2106					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CAGTGTCTCGGTGAGAGACGC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	14	14			NA	NA	6		NA											NA				138656299		2201	4298	6499	SO:0001583	missense			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379	57221	57221		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	21213	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 33		chromosome 6 open reading frame 92	C6orf92	NA		Standard	NM_020340	NM_020340	NA	Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.6316G>T	6.37:g.138656299G>T	ENSP00000251691:p.Val2106Leu	NA	Q76MU8|Q8N4Y4|Q96CH9|Q96P46|Q9ULH6	37	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	8.966	0.971814	0.18736	.	.	ENSG00000112379	ENST00000251691;ENST00000367706	T	0.15952	2.38	5.76	4.89	0.63831	.	0.717553	0.14079	N	0.342873	T	0.03053	0.0090	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41556	-0.9502	10	0.20519	T	0.43	-28.9434	8.9898	0.36017	0.2707:0.0:0.7293:0.0	.	2106	Q5TH69	BIG3_HUMAN	L	2106;147	ENSP00000251691:V2106L	ENSP00000251691:V2106L	V	+	1	0	KIAA1244	138697992	0.501000	0.26099	0.002000	0.10522	0.968000	0.65278	2.325000	0.43840	1.434000	0.47414	0.511000	0.50034	GTG	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042425.4		+	ENST00000251691.4	Missense_Mutation	SNP	6 : 138656299 - 138656299 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	66	7
RAP1GAP2	23108	broad.mit.edu	37	17	2898752	2898752	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2898752G>A	ENST00000254695.8	+	13	1126	c.1036G>A	c.(1036-1038)Gcc>Acc	p.A346T	RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.A346T|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.A331T|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.A327T	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	346	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CGACGGAGACGCCCAGCAGGT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA,THR/ALA	1,4331	2.1+/-5.4	0,1,2165	61	63	62		991,1036	1.3	1	17		62	0,8584		0,0,4292	no	missense,missense	RAP1GAP2	NM_001100398.1,NM_015085.4	58,58	0,1,6457	AA,AG,GG	NA	0.0,0.0231,0.0077	benign,benign	331/716,346/731	2898752	1,12915	2166	4292	6458	SO:0001583	missense			AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359	23108	23108			29176	protein-coding gene	gene with protein product			GTPase activating RANGAP domain-like 4, GTPase activating Rap/RanGAP domain-like 4	GARNL4	NA	15632203	Standard		NM_015085	NA	Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.1036G>A	17.37:g.2898752G>A	ENSP00000254695:p.Ala346Thr	NA	B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	37	CCDS45573.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869383	0.32977	2.31E-4	0.0	ENSG00000132359	ENST00000254695;ENST00000366401;ENST00000540393;ENST00000542807	D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57	5.72	1.34	0.21922	Rap/ran-GAP (2);	0.529823	0.23081	N	0.052147	D	0.83450	0.5257	N	0.05608	-0.01	0.30925	N	0.727525	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.72972	-0.4129	10	0.13853	T	0.58	-16.4671	7.4483	0.27223	0.6114:0.0:0.3886:0.0	.	331;346	Q684P5-2;Q684P5	.;RPGP2_HUMAN	T	346;331;327;346	ENSP00000254695:A346T;ENSP00000389824:A331T;ENSP00000439688:A327T;ENSP00000444890:A346T	ENSP00000254695:A346T	A	+	1	0	RAP1GAP2	2845502	0.021000	0.18746	0.984000	0.44739	0.997000	0.91878	1.245000	0.32790	0.271000	0.22005	0.655000	0.94253	GCC	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438208.2		+	ENST00000254695.8	Missense_Mutation	SNP	17 : 2898752 - 2898752 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	393	65
SH2D3C	10044	broad.mit.edu	37	9	130501057	130501057	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130501057G>T	ENST00000314830.8	-	12	2664	c.2551C>A	c.(2551-2553)Ctg>Atg	p.L851M	SH2D3C_ENST00000429553.1_Missense_Mutation_p.L497M|SH2D3C_ENST00000373277.4_Missense_Mutation_p.L694M|SH2D3C_ENST00000420366.1_Missense_Mutation_p.L693M|SH2D3C_ENST00000373276.3_Missense_Mutation_p.L783M|SH2D3C_ENST00000373274.3_Missense_Mutation_p.L691M	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	851	Ras-GEF.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCAGGTTCCAGCTTGTGGGAC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	53	58			NA	NA	9		NA											NA				130501057		2202	4300	6502	SO:0001583	missense			AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370	10044	10044		SH2 domain containing	16884	protein-coding gene	gene with protein product		604722	SH2 domain-containing 3C		NA	10187783	Standard	NM_005489	NM_170600	NA	Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.2551C>A	9.37:g.130501057G>T	ENSP00000317817:p.Leu851Met	NA	Q5HYE5|Q6UY42|Q8N6X3|Q9Y2X5	37	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119480	0.77323	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	T;T;T;T;T;T	0.36520	2.13;2.15;1.83;2.14;1.25;2.02	5.76	2.77	0.32553	Guanine-nucleotide dissociation stimulator CDC25 (2);	0.065135	0.64402	D	0.000005	T	0.45478	0.1344	M	0.79926	2.475	0.58432	D	0.999996	P;P;P;B;P	0.46142	0.554;0.873;0.81;0.301;0.856	B;P;B;B;P	0.48141	0.262;0.549;0.187;0.243;0.568	T	0.46789	-0.9166	10	0.72032	D	0.01	-15.1161	7.9297	0.29895	0.1462:0.133:0.7208:0.0	.	691;851;783;694;693	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.;SH2D3_HUMAN;.;.;.	M	694;693;783;691;497;851	ENSP00000362374:L694M;ENSP00000388536:L693M;ENSP00000362373:L783M;ENSP00000362371:L691M;ENSP00000394632:L497M;ENSP00000317817:L851M	ENSP00000317817:L851M	L	-	1	2	SH2D3C	129540878	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.820000	0.62671	0.772000	0.33382	0.655000	0.94253	CTG	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054264.1		-	ENST00000314830.8	Missense_Mutation	SNP	9 : 130501057 - 130501057 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	72	15
TRIM17	51127	broad.mit.edu	37	1	228595985	228595985	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228595985G>A	ENST00000366697.2	-	6	2307	c.1351C>T	c.(1351-1353)Ccc>Tcc	p.P451S	RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000366698.2_Missense_Mutation_p.P451S|TRIM17_ENST00000295033.3_Missense_Mutation_p.P451S			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	451	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				GGCTGCAGGGGGCCTGGGAAG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	75	73			NA	NA	1		NA											NA				228595985		2203	4300	6503	SO:0001583	missense			AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931	51127	51127		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	13430	protein-coding gene	gene with protein product	ring finger protein 16, RING finger protein terf, testis RING finger protein	606123	tripartite motif-containing 17	RNF16	NA	9792805, 10894938	Standard	NM_016102	NM_016102	NA	Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.1351C>T	1.37:g.228595985G>A	ENSP00000355658:p.Pro451Ser	NA	B4DVJ2|Q5VST8	37	CCDS1571.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689834	0.48097	.	.	ENSG00000162931	ENST00000366697;ENST00000366698;ENST00000295033	T;T;T	0.65549	-0.16;-0.16;-0.16	4.92	4.92	0.64577	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.43260	D	0.000592	T	0.73837	0.3638	M	0.67700	2.07	0.80722	D	1	D	0.52996	0.957	P	0.57324	0.818	T	0.76138	-0.3069	10	0.59425	D	0.04	.	16.4366	0.83877	0.0:0.0:1.0:0.0	.	451	Q9Y577	TRI17_HUMAN	S	451	ENSP00000355658:P451S;ENSP00000355659:P451S;ENSP00000295033:P451S	ENSP00000295033:P451S	P	-	1	0	TRIM17	226662608	0.182000	0.23173	0.992000	0.48379	0.495000	0.33615	2.066000	0.41452	2.642000	0.89623	0.655000	0.94253	CCC	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096439.2		-	ENST00000366697.2	Missense_Mutation	SNP	1 : 228595985 - 228595985 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	587	159
IFRD1	3475	broad.mit.edu	37	7	112095820	112095820	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:112095820G>A	ENST00000403825.3	+	2	358	c.97G>A	c.(97-99)Ggc>Agc	p.G33S	IFRD1_ENST00000005558.4_Missense_Mutation_p.G33S|IFRD1_ENST00000535603.1_5'UTR|IFRD1_ENST00000429071.1_Missense_Mutation_p.G33S	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	33					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						CCTAATAGGTGGCCAGCATCG	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	115	116			NA	NA	7		NA											NA				112095820		2203	4300	6503	SO:0001583	missense			Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652	3475	3475			5456	protein-coding gene	gene with protein product		603502			NA	9722946	Standard	NM_001550	NM_001550	NA	Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.97G>A	7.37:g.112095820G>A	ENSP00000384477:p.Gly33Ser	NA	O75234|Q5U013|Q9BVE4	37	CCDS34736.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015458	0.93404	.	.	ENSG00000006652	ENST00000005558;ENST00000445335;ENST00000403825;ENST00000429071	T;T	0.46451	0.87;0.87	5.06	5.06	0.68205	.	0.094278	0.64402	D	0.000001	T	0.27134	0.0665	N	0.08118	0	0.80722	D	1	P;B	0.48294	0.908;0.141	B;B	0.41374	0.355;0.057	T	0.08994	-1.0695	10	0.29301	T	0.29	-17.5418	18.7821	0.91937	0.0:0.0:1.0:0.0	.	33;33	C9JA65;O00458	.;IFRD1_HUMAN	S	33	ENSP00000005558:G33S;ENSP00000384477:G33S	ENSP00000005558:G33S	G	+	1	0	IFRD1	111883056	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.316000	0.79007	2.506000	0.84524	0.460000	0.39030	GGC	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000338700.1		+	ENST00000403825.3	Missense_Mutation	SNP	7 : 112095820 - 112095820 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	478	74
GSTA5	221357	broad.mit.edu	37	6	52699025	52699025	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52699025G>T	ENST00000370989.2	-	4	357	c.328C>A	c.(328-330)Ctc>Atc	p.L110I	GSTA5_ENST00000284562.2_Missense_Mutation_p.L110I|GSTA5_ENST00000475052.1_5'UTR			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	NA	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	TGACATATGAGCAGAAGAAGG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													201	192	195			NA	NA	6		NA											NA				52699025		2203	4300	6503	SO:0001583	missense			BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	221357	221357	2.5.1.18	Glutathione S-transferases / Soluble	19662	protein-coding gene	gene with protein product		607605	glutathione S-transferase A5		NA	12042665	Standard	NM_153699	NM_153699	NA	Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.328C>A	6.37:g.52699025G>T	ENSP00000360028:p.Leu110Ile	NA	Q5SZC2	37	CCDS4946.1	.	.	.	.	.	.	.	.	.	.	G	6.796	0.515794	0.12944	.	.	ENSG00000182793	ENST00000370989;ENST00000284562	T;T	0.02085	4.46;4.46	2.58	-2.38	0.06622	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.065164	0.64402	D	0.000009	T	0.00241	0.0007	N	0.00750	-1.22	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41840	-0.9486	10	0.52906	T	0.07	.	3.5426	0.07816	0.2105:0.0:0.4597:0.3298	.	110	Q7RTV2	GSTA5_HUMAN	I	110	ENSP00000360028:L110I;ENSP00000284562:L110I	ENSP00000284562:L110I	L	-	1	0	GSTA5	52806984	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.157000	0.10085	-0.900000	0.03896	-1.296000	0.01341	CTC	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040917.1		-	ENST00000370989.2	Missense_Mutation	SNP	6 : 52699025 - 52699025 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	862	155
CEL	1056	broad.mit.edu	37	9	135942552	135942552	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135942552C>T	ENST00000372080.4	+	7	880	c.864C>T	c.(862-864)gcC>gcT	p.A288A	CEL_ENST00000351304.7_Silent_p.A285A	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	285				RALTL -> AAVTV (in Ref. 5; AAB35488).	cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		ATCCCCGAGCCCTGACGCTGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	39	37			NA	NA	9		NA											NA				135942552		2075	4201	6276	SO:0001819	synonymous_variant			M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	1056	1056	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	bile salt-stimulated lipase	114840			NA	1676983	Standard		NM_001807	NA	Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.864C>T	9.37:g.135942552C>T		NA	Q16398|Q5T7U7|Q9UCH1|Q9UP41	37	CCDS43896.1																																																																																			CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054823.1		+	ENST00000372080.4	Silent	SNP	9 : 135942552 - 135942552 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	188	14
FSCB	84075	broad.mit.edu	37	14	44973805	44973805	+	Missense_Mutation	SNP	C	C	T	rs75354082	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:44973805C>T	ENST00000340446.4	-	1	2677	c.2386G>A	c.(2386-2388)Gat>Aat	p.D796N		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	796						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TTAGACAAATCTTTAAGGACA	0.383		NA											C	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	2e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0													73	79	77			NA	NA	14		NA											NA				44973805		2202	4300	6502	SO:0001583	missense			AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139	84075	84075			20494	protein-coding gene	gene with protein product		611779	chromosome 14 open reading frame 155	C14orf155	NA	17855365	Standard	NM_032135	NM_032135	NA	Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.2386G>A	14.37:g.44973805C>T	ENSP00000344579:p.Asp796Asn	NA	Q5H9U7|Q86YI2|Q9H0J3	37	CCDS9679.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.86	2.662331	0.47572	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.24908	1.83	3.52	0.672	0.17935	.	.	.	.	.	T	0.18130	0.0435	L	0.43152	1.355	0.09310	N	1	P	0.34639	0.461	B	0.28849	0.095	T	0.12889	-1.0530	9	0.44086	T	0.13	-6.0457	7.0159	0.24887	0.0:0.6676:0.0:0.3324	.	796	Q5H9T9	FSCB_HUMAN	N	796;689	ENSP00000344579:D796N	ENSP00000344579:D796N	D	-	1	0	FSCB	44043555	0.988000	0.35896	0.003000	0.11579	0.079000	0.17450	0.299000	0.19138	0.134000	0.18681	0.484000	0.47621	GAT	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276788.1		-	ENST00000340446.4	Missense_Mutation	SNP	14 : 44973805 - 44973805 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	582	92
BCAR1	9564	broad.mit.edu	37	16	75276721	75276721	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75276721G>A	ENST00000418647.3	-	3	701	c.418C>T	c.(418-420)Cct>Tct	p.P140S	BCAR1_ENST00000393420.6_Missense_Mutation_p.P94S|BCAR1_ENST00000546196.1_Missense_Mutation_p.P65S|BCAR1_ENST00000420641.3_Missense_Mutation_p.P112S|BCAR1_ENST00000542031.2_Missense_Mutation_p.P92S|BCAR1_ENST00000162330.5_Missense_Mutation_p.P94S|BCAR1_ENST00000535626.2_Intron|BCAR1_ENST00000538440.2_Missense_Mutation_p.P94S|BCAR1_ENST00000393422.2_Missense_Mutation_p.P112S	NM_001170714.1	NP_001164185.1	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	94	Substrate for kinases (By similarity).				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAGGCCGGAGGCGCTGGGGCA	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	37	36			NA	NA	16		NA											NA				75276721		2198	4299	6497	SO:0001583	missense			AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820	9564	9564		Cas scaffolding proteins	971	protein-coding gene	gene with protein product	Crk-associated substrate, Cas scaffolding protein family member 1	602941			NA	8413311, 10639512	Standard	NM_014567	NM_001170714	NA	Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000418647.3:c.418C>T	16.37:g.75276721G>A	ENSP00000391669:p.Pro140Ser	NA		37	CCDS54040.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.405442	0.00195	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77	4.0	2.74	0.32292	.	0.733051	0.11840	N	0.524401	T	0.73337	0.3574	L	0.34521	1.04	0.20403	N	0.999903	B;P;D;B;P;B;B	0.67145	0.136;0.948;0.996;0.033;0.492;0.007;0.05	B;P;D;B;B;B;B	0.78314	0.02;0.68;0.991;0.04;0.112;0.007;0.02	T	0.61058	-0.7139	10	0.09843	T	0.71	-18.0329	6.4284	0.21782	0.2322:0.0:0.7678:0.0	.	112;140;92;94;112;94;94	B4DIW5;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945	.;.;.;.;.;.;BCAR1_HUMAN	S	94;112;112;94;140;94;92;65	ENSP00000162330:P94S;ENSP00000377074:P112S;ENSP00000392708:P112S;ENSP00000443841:P94S;ENSP00000391669:P140S;ENSP00000377072:P94S;ENSP00000440415:P92S;ENSP00000442161:P65S	ENSP00000162330:P94S	P	-	1	0	BCAR1	73834222	0.223000	0.23663	0.144000	0.22314	0.035000	0.12851	0.902000	0.28459	1.929000	0.55896	0.655000	0.94253	CCT	BCAR1-005	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434666.1		-	ENST00000418647.3	Missense_Mutation	SNP	16 : 75276721 - 75276721 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	533	102
KIAA1009	0	broad.mit.edu	37	6	84879094	84879094	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84879094T>C	ENST00000403245.3	-	18	2452	c.2338A>G	c.(2338-2340)Aga>Gga	p.R780G	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.R704G	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN		780					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTCTGATTTCTTGTGGGCTCT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	68	70			NA	NA	6		NA											NA				84879094		2202	4299	6501	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000403245.3:c.2338A>G	6.37:g.84879094T>C	ENSP00000385215:p.Arg780Gly	NA	A6PVL7|A6PVL8|Q6P475|Q9Y2L2	37	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	T	14.39	2.520900	0.44866	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.32515	1.45;1.45	5.96	4.79	0.61399	.	0.320498	0.31167	N	0.008138	T	0.14184	0.0343	L	0.40543	1.245	0.25363	N	0.988764	P	0.39480	0.675	B	0.43658	0.426	T	0.13229	-1.0517	10	0.20519	T	0.43	-7.1047	12.6876	0.56956	0.0:0.0:0.1379:0.8621	.	780	Q5TB80	QN1_HUMAN	G	704;780	ENSP00000257766:R704G;ENSP00000385215:R780G	ENSP00000257766:R704G	R	-	1	2	KIAA1009	84935813	0.881000	0.30235	0.732000	0.30844	0.971000	0.66376	3.972000	0.56838	1.064000	0.40671	0.460000	0.39030	AGA	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317315.1		-	ENST00000403245.3	Missense_Mutation	SNP	6 : 84879094 - 84879094 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	37	10
BEND2	139105	broad.mit.edu	37	X	18209204	18209204	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18209204C>T	ENST00000380033.4	-	8	1337	c.1205G>A	c.(1204-1206)gGg>gAg	p.G402E	BEND2_ENST00000380030.3_Missense_Mutation_p.G311E	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	402										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ACTCATTGTCCCATAACTCAT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													200	168	179			NA	NA	X		NA											NA				18209204		2203	4300	6503	SO:0001583	missense			AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324	139105	139105		BEN domain containing	28509	protein-coding gene	gene with protein product			chromosome X open reading frame 20	CXorf20	NA	12477932	Standard	NM_153346	NM_153346	NA	Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.1205G>A	X.37:g.18209204C>T	ENSP00000369372:p.Gly402Glu	NA	Q5JXE5	37	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	C	0.079	-1.187430	0.01620	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.18502	2.21;2.31	3.03	-0.898	0.10550	.	2.177200	0.01931	N	0.041245	T	0.08537	0.0212	N	0.16790	0.44	0.09310	N	1	B;B	0.13594	0.008;0.0	B;B	0.12837	0.008;0.0	T	0.17868	-1.0355	10	0.02654	T	1	-0.0082	3.3303	0.07082	0.2052:0.1411:0.0:0.6537	.	311;402	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	E	402;311	ENSP00000369372:G402E;ENSP00000369369:G311E	ENSP00000369369:G311E	G	-	2	0	BEND2	18119125	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.275000	0.08525	-0.286000	0.09076	-1.169000	0.01745	GGG	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055940.1		-	ENST00000380033.4	Missense_Mutation	SNP	X : 18209204 - 18209204 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	249	57
MCHR1	2847	broad.mit.edu	37	22	41076968	41076968	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41076968C>T	ENST00000381433.2	+	2	478	c.305C>T	c.(304-306)aCg>aTg	p.T102M	MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000249016.4_Missense_Mutation_p.T102M			Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	102					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						CCTCCTCGCACGGGGAGCATC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	97	107			NA	NA	22		NA											NA				41076968		2203	4300	6503	SO:0001583	missense				CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285	2847	2847		GPCR / Class A : MCH receptors	4479	protein-coding gene	gene with protein product		601751	G protein-coupled receptor 24	GPR24	NA		Standard	NM_005297	XM_005261581	NA	Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000381433.2:c.305C>T	22.37:g.41076968C>T	ENSP00000370841:p.Thr102Met	NA	B2RBX6|Q5R3J1|Q96S47|Q9BV08	37		.	.	.	.	.	.	.	.	.	.	C	2.616	-0.289617	0.05568	.	.	ENSG00000128285	ENST00000249016;ENST00000381433	T;T	0.37235	1.21;1.21	5.36	-0.573	0.11742	.	0.861856	0.10258	N	0.696279	T	0.20333	0.0489	N	0.19112	0.55	0.09310	N	1	B	0.33904	0.431	B	0.29785	0.107	T	0.14117	-1.0484	10	0.46703	T	0.11	.	7.7707	0.29006	0.0:0.4767:0.3778:0.1455	.	102	Q99705	MCHR1_HUMAN	M	102	ENSP00000249016:T102M;ENSP00000370841:T102M	ENSP00000249016:T102M	T	+	2	0	MCHR1	39406914	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.479000	0.06567	-0.150000	0.11195	-0.165000	0.13383	ACG	MCHR1-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000317144.1		+	ENST00000381433.2	Missense_Mutation	SNP	22 : 41076968 - 41076968 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	56
GPRC5B	51704	broad.mit.edu	37	16	19883930	19883930	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19883930G>A	ENST00000300571.2	-	2	429	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	GPRC5B_ENST00000569847.1_Missense_Mutation_p.R80W|GPRC5B_ENST00000535671.1_Missense_Mutation_p.R80W|GPRC5B_ENST00000537135.1_Missense_Mutation_p.R106W|GPRC5B_ENST00000569479.1_Missense_Mutation_p.R80W	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	80								p.R80W(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						AAGGGCAGCCGCACCAGGAGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)						G	TRP/ARG	1,4393		0,1,2196	38	43	41		238	2.3	1	16		41	2,8598	2.2+/-6.3	0,2,4298	yes	missense	GPRC5B	NM_016235.1	101	0,3,6494	AA,AG,GG	NA	0.0233,0.0228,0.0231	probably-damaging	80/404	19883930	3,12991	2197	4300	6497	SO:0001583	missense			AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191	NA	51704		GPCR / Class C : Orphans	13308	protein-coding gene	gene with protein product		605948	G protein-coupled receptor, family C, group 1, member B, G protein-coupled receptor, family C, group 5, member B		NA	10493829, 10783259	Standard		XM_005255357	NA	Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.238C>T	16.37:g.19883930G>A	ENSP00000300571:p.Arg80Trp	NA	O75205|Q8NBZ8	37	CCDS10581.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446399	0.63178	2.28E-4	2.33E-4	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	D;D;D	0.89552	-2.53;-2.53;-2.53	5.8	2.32	0.28847	GPCR, family 3, C-terminal (1);	0.063725	0.64402	D	0.000012	D	0.92492	0.7616	M	0.64997	1.995	0.54753	D	0.999985	D;D	0.89917	0.999;1.0	P;D	0.87578	0.861;0.998	D	0.91511	0.5227	9	.	.	.	.	13.9379	0.64036	0.0:0.0:0.4665:0.5335	.	106;80	B7Z831;Q9NZH0	.;GPC5B_HUMAN	W	80;80;80;106	ENSP00000300571:R80W;ENSP00000442858:R80W;ENSP00000441775:R106W	.	R	-	1	2	GPRC5B	19791431	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.630000	0.46494	0.737000	0.32582	0.655000	0.94253	CGG	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254285.1		-	ENST00000300571.2	Missense_Mutation	SNP	16 : 19883930 - 19883930 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	369	66
DDX51	317781	broad.mit.edu	37	12	132626412	132626412	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132626412C>T	ENST00000397333.3	-	6	1016	c.978G>A	c.(976-978)gaG>gaA	p.E326E		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	326	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GGACGAGGCTCTCCTGCTCCT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	64	63			NA	NA	12		NA											NA				132626412		1949	4148	6097	SO:0001819	synonymous_variant			BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163	317781	317781		DEAD-boxes	20082	protein-coding gene	gene with protein product					NA		Standard	NM_175066	NM_175066	NA	Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.978G>A	12.37:g.132626412C>T		NA	A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	37	CCDS41865.1																																																																																			DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398978.1		-	ENST00000397333.3	Silent	SNP	12 : 132626412 - 132626412 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	52
DHX36	170506	broad.mit.edu	37	3	153995419	153995419	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:153995419G>A	ENST00000496811.1	-	23	2736	c.2656C>T	c.(2656-2658)Ctt>Ttt	p.L886F	DHX36_ENST00000308361.6_Missense_Mutation_p.L857F|DHX36_ENST00000329463.5_Missense_Mutation_p.L872F|DHX36_ENST00000544526.1_Missense_Mutation_p.L872F	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	886						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TGATAGATAAGCCAGTTGTAG	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	89	89			NA	NA	3		NA											NA				153995419		2203	4300	6503	SO:0001583	missense			AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953	170506	170506		DEAH-boxes	14410	protein-coding gene	gene with protein product		612767	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36	DDX36	NA		Standard	NM_020865	NM_020865	NA	Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.2656C>T	3.37:g.153995419G>A	ENSP00000417078:p.Leu886Phe	NA	B2RB00|Q70JU3|Q8IYE5|Q9P240	37	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.830917	0.91036	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463	T;T;T;T	0.05199	3.67;3.6;3.49;3.48	5.91	5.03	0.67393	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.21186	0.0510	M	0.72624	2.21	0.58432	D	0.999997	D;D;D	0.56746	0.972;0.972;0.977	P;P;P	0.61722	0.785;0.828;0.893	T	0.00036	-1.2257	10	0.48119	T	0.1	.	15.4806	0.75524	0.0674:0.0:0.9326:0.0	.	872;857;886	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	F	886;857;872;872	ENSP00000417078:L886F;ENSP00000309296:L857F;ENSP00000444247:L872F;ENSP00000330113:L872F	ENSP00000309296:L857F	L	-	1	0	DHX36	155478113	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.271000	0.95698	2.794000	0.96219	0.655000	0.94253	CTT	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353349.1		-	ENST00000496811.1	Missense_Mutation	SNP	3 : 153995419 - 153995419 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	175	27
GPR124	25960	broad.mit.edu	37	8	37691268	37691268	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37691268G>A	ENST00000315215.7	+	10	1722	c.1359G>A	c.(1357-1359)gaG>gaA	p.E453E	GPR124_ENST00000412232.2_Silent_p.E453E			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	453					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			ACACAGCCGAGGCCGCTAGCT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	102	104			NA	NA	8		NA											NA				37691268		2203	4300	6503	SO:0001819	synonymous_variant			AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181	25960	25960		-, GPCR / Class B : Orphans, Immunoglobulin superfamily / Immunoglobulin-like domain containing	17849	protein-coding gene	gene with protein product	tumor endothelial marker 5	606823			NA	11559528, 12565841	Standard		NM_032777	NA	Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000315215.7:c.1359G>A	8.37:g.37691268G>A		NA	A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	37																																																																																				GPR124-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000343332.3		+	ENST00000315215.7	Silent	SNP	8 : 37691268 - 37691268 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	508	103
PIH1D2	120379	broad.mit.edu	37	11	111941873	111941873	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111941873G>A	ENST00000530641.1	-	4	761	c.436C>T	c.(436-438)Cac>Tac	p.H146Y	PIH1D2_ENST00000528775.1_Missense_Mutation_p.H146Y|PIH1D2_ENST00000280350.4_Missense_Mutation_p.H146Y|PIH1D2_ENST00000532211.1_Missense_Mutation_p.H146Y|PIH1D2_ENST00000431456.1_Missense_Mutation_p.H146Y|PIH1D2_ENST00000521853.2_5'UTR			Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	146										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		TGGTAAGAGTGTGAGAGGGTG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	172	173			NA	NA	11		NA											NA				111941873		2201	4297	6498	SO:0001583	missense			BC019238	CCDS8355.1, CCDS44730.1	11q23.1	2007-01-31			ENSG00000150773	ENSG00000150773	120379	120379			25210	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_138789	NM_138789	NA	Approved		uc001pmp.4	Q8WWB5	OTTHUMG00000166925	ENST00000530641.1:c.436C>T	11.37:g.111941873G>A	ENSP00000431147:p.His146Tyr	NA		37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.35|17.35	3.368591|3.368591	0.61624|0.61624	.|.	.|.	ENSG00000150773|ENSG00000150773	ENST00000528775;ENST00000431456;ENST00000532211;ENST00000280350;ENST00000530641;ENST00000525744|ENST00000525072	T;T;T;T;T;T|.	0.17854|.	2.25;2.25;2.25;2.25;2.25;2.25|.	5.9|5.9	4.98|4.98	0.66077|0.66077	.|.	0.628571|.	0.18277|.	N|.	0.146140|.	T|T	0.73651|0.73651	0.3614|0.3614	M|M	0.72479|0.72479	2.2|2.2	0.41608|0.41608	D|D	0.988891|0.988891	D;D;D|.	0.57571|.	0.964;0.98;0.97|.	P;P;P|.	0.51516|.	0.672;0.672;0.663|.	T|T	0.74657|0.74657	-0.3592|-0.3592	10|5	0.56958|.	D|.	0.05|.	-1.1106|-1.1106	15.6913|15.6913	0.77457|0.77457	0.0:0.0:0.8542:0.1458|0.0:0.0:0.8542:0.1458	.|.	146;146;146|.	B4DU48;E9PD82;Q8WWB5|.	.;.;PIHD2_HUMAN|.	Y|I	146;146;146;146;146;111|101	ENSP00000434275:H146Y;ENSP00000388209:H146Y;ENSP00000431841:H146Y;ENSP00000280350:H146Y;ENSP00000431147:H146Y;ENSP00000433297:H111Y|.	ENSP00000280350:H146Y|.	H|T	-|-	1|2	0|0	PIH1D2|PIH1D2	111447083|111447083	0.694000|0.694000	0.27738|0.27738	0.950000|0.950000	0.38849|0.38849	0.832000|0.832000	0.47134|0.47134	1.479000|1.479000	0.35453|0.35453	1.467000|1.467000	0.48044|0.48044	0.591000|0.591000	0.81541|0.81541	CAC|ACA	PIH1D2-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000391918.1		-	ENST00000530641.1	Missense_Mutation	SNP	11 : 111941873 - 111941873 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	893	149
SCN9A	6335	broad.mit.edu	37	2	167085266	167085266	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167085266G>A	ENST00000409672.1	-	22	4454	c.4108C>T	c.(4108-4110)Cga>Tga	p.R1370*	SCN9A_ENST00000303354.6_Nonsense_Mutation_p.R1382*|SCN9A_ENST00000375387.4_Nonsense_Mutation_p.R1382*|SCN9A_ENST00000409435.1_Nonsense_Mutation_p.R1381*|AC010127.3_ENST00000447809.2_RNA	NM_002977.3	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1381						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TTTTTCCATCGCACATTTTGA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													209	206	207			NA	NA	2		NA											NA				167085266		1911	4151	6062	SO:0001587	stop_gained			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432	6335	6335		Sodium channels, Voltage-gated ion channels / Sodium channels	10597	protein-coding gene	gene with protein product		603415	sodium channel, voltage-gated, type IX, alpha polypeptide		NA	7720699, 10198179, 16382098	Standard	NM_002977	NM_002977	NA	Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409672.1:c.4108C>T	2.37:g.167085266G>A	ENSP00000386306:p.Arg1370*	NA	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	37	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	G	45	12.055428	0.99631	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	.	.	.	5.23	2.35	0.29111	.	0.000000	0.47455	D	0.000227	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7708	0.69675	0.0:0.0:0.3767:0.6233	.	.	.	.	X	1370;1382;1382;1381	.	ENSP00000304748:R1382X	R	-	1	2	SCN9A	166793512	0.122000	0.22280	0.983000	0.44433	0.988000	0.76386	0.970000	0.29383	0.181000	0.19994	0.557000	0.71058	CGA	SCN9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333636.1		-	ENST00000409672.1	Nonsense_Mutation	SNP	2 : 167085266 - 167085266 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	998	173
SCN10A	6336	broad.mit.edu	37	3	38793718	38793718	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38793718C>T	ENST00000449082.2	-	11	1746	c.1747G>A	c.(1747-1749)Gat>Aat	p.D583N		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	583					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ACCGAGACATCGACAGCTCCA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	128	128			NA	NA	3		NA											NA				38793718		2203	4300	6503	SO:0001583	missense			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313	6336	6336		Sodium channels, Voltage-gated ion channels / Sodium channels	10582	protein-coding gene	gene with protein product		604427	sodium channel, voltage-gated, type X, alpha polypeptide		NA	9839820, 10198179, 16382098	Standard	NM_006514	NM_006514	NA	Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1747G>A	3.37:g.38793718C>T	ENSP00000390600:p.Asp583Asn	NA	A6NDQ1	37	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.546846	0.27652	.	.	ENSG00000185313	ENST00000449082	D	0.95588	-3.75	4.31	4.31	0.51392	.	6.498510	0.00447	N	0.000092	D	0.90707	0.7084	N	0.08118	0	0.20403	N	0.9999	B	0.15930	0.015	B	0.08055	0.003	T	0.76974	-0.2760	10	0.35671	T	0.21	.	12.5849	0.56412	0.0:1.0:0.0:0.0	.	583	Q9Y5Y9	SCNAA_HUMAN	N	583	ENSP00000390600:D583N	ENSP00000390600:D583N	D	-	1	0	SCN10A	38768722	0.452000	0.25713	0.624000	0.29186	0.300000	0.27592	3.018000	0.49625	2.689000	0.91719	0.462000	0.41574	GAT	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109745.3		-	ENST00000449082.2	Missense_Mutation	SNP	3 : 38793718 - 38793718 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	471	69
DDX59	83479	broad.mit.edu	37	1	200635067	200635067	+	Missense_Mutation	SNP	C	C	T	rs143810968		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200635067C>T	ENST00000447706.2	-	2	953	c.802G>A	c.(802-804)Gag>Aag	p.E268K	DDX59_ENST00000367348.3_Missense_Mutation_p.E268K|DDX59_ENST00000331314.6_Missense_Mutation_p.E268K			Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	268	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						ACACTTACCTCGAATAAAGCT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	47	48	48		802	3	0.7	1	dbSNP_134	48	3,8597	3.0+/-9.4	0,3,4297	yes	missense	DDX59	NM_001031725.4	56	0,4,6499	TT,TC,CC	NA	0.0349,0.0227,0.0308	benign	268/620	200635067	4,13002	2203	4300	6503	SO:0001583	missense			BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197	83479	83479		Zinc fingers, HIT-type, DEAD-boxes	25360	protein-coding gene	gene with protein product		615464			NA		Standard	NM_001031725.4	NM_001031725	NA	Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000447706.2:c.802G>A	1.37:g.200635067C>T	ENSP00000394367:p.Glu268Lys	NA	Q6PJL2|Q8IVW3|Q9H0W3	37		.	.	.	.	.	.	.	.	.	.	C	11.62	1.692739	0.30052	2.27E-4	3.49E-4	ENSG00000118197	ENST00000447706;ENST00000367348;ENST00000331314	T;T;T	0.14766	2.48;2.48;2.48	5.2	2.96	0.34315	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.434790	0.26418	N	0.024483	T	0.05547	0.0146	N	0.05487	-0.04	0.26589	N	0.973232	B;B	0.13145	0.002;0.007	B;B	0.12156	0.004;0.007	T	0.40346	-0.9568	10	0.08599	T	0.76	-24.0557	8.2557	0.31756	0.0:0.6967:0.1491:0.1542	.	268;268	B7Z5N6;Q5T1V6	.;DDX59_HUMAN	K	268	ENSP00000394367:E268K;ENSP00000356317:E268K;ENSP00000330460:E268K	ENSP00000330460:E268K	E	-	1	0	DDX59	198901690	0.577000	0.26708	0.700000	0.30305	0.181000	0.23173	1.146000	0.31589	1.194000	0.43101	0.558000	0.71614	GAG	DDX59-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000086882.3		-	ENST00000447706.2	Missense_Mutation	SNP	1 : 200635067 - 200635067 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	387	99
CCT7	10574	broad.mit.edu	37	2	73470188	73470188	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73470188G>A	ENST00000258091.5	+	4	465	c.324G>A	c.(322-324)gtG>gtA	p.V108V	CCT7_ENST00000398422.2_Intron|CCT7_ENST00000539919.1_Silent_p.V64V|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000540468.1_Silent_p.V21V|CCT7_ENST00000537131.1_Silent_p.V8V|CCT7_ENST00000538797.1_5'UTR	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	108					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						TGAAGCAGGTGAAACCCTATG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	86	86			NA	NA	2		NA											NA				73470188		1956	4142	6098	SO:0001819	synonymous_variant			AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624	10574	10574		Heat Shock Proteins / Chaperonins	1622	protein-coding gene	gene with protein product		605140			NA	9819444	Standard		NM_006429	NA	Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.324G>A	2.37:g.73470188G>A		NA	A8K7E6|B7WNW9|O14871|Q6FI26	37	CCDS46336.1																																																																																			CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327714.2		+	ENST00000258091.5	Silent	SNP	2 : 73470188 - 73470188 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	441	73
ITIH6	347365	broad.mit.edu	37	X	54783606	54783606	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54783606C>T	ENST00000218436.6	-	8	2930	c.2901G>A	c.(2899-2901)atG>atA	p.M967I		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	967	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity				NA						TGAGTAGGCTCATTGTTGGAA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ILE/MET	0,3835		0,0,1632,571	108	95	100		2901	1.1	0	X		100	1,6727		0,1,2427,1872	no	missense	ITIH5L	NM_198510.2	10	0,1,4059,2443	TT,TC,CC,C	NA	0.0149,0.0,0.0095	benign	967/1314	54783606	1,10562	2203	4300	6503	SO:0001583	missense			AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313	347365	347365			28907	protein-coding gene	gene with protein product			inter-alpha (globulin) inhibitor H5-like	ITIH5L	NA	12975309	Standard	NM_198510	NM_198510	NA	Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2901G>A	X.37:g.54783606C>T	ENSP00000218436:p.Met967Ile	NA	A6NN03	37	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	C	0.268	-0.994661	0.02145	0.0	1.49E-4	ENSG00000102313	ENST00000218436	T	0.02140	4.43	3.37	1.13	0.20643	.	3.939420	0.01482	U	0.016729	T	0.02119	0.0066	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45469	-0.9259	10	0.28530	T	0.3	.	5.3181	0.15866	0.0:0.6231:0.0:0.3769	.	967	Q6UXX5	ITH5L_HUMAN	I	967	ENSP00000218436:M967I	ENSP00000218436:M967I	M	-	3	0	ITIH5L	54800331	0.387000	0.25188	0.003000	0.11579	0.028000	0.11728	0.122000	0.15687	0.004000	0.14682	0.594000	0.82650	ATG	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056814.2		-	ENST00000218436.6	Missense_Mutation	SNP	X : 54783606 - 54783606 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	174	53
LRRC46	90506	broad.mit.edu	37	17	45909502	45909502	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45909502G>A	ENST00000269025.4	+	2	410	c.47G>A	c.(46-48)tGc>tAc	p.C16Y		NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	16										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						GGGGGCGTCTGCATCACTGAA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	147	150			NA	NA	17		NA											NA				45909502		2203	4300	6503	SO:0001583	missense				CCDS11518.1	17q21.32	2005-08-09				ENSG00000141294	90506	90506			25047	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_033413	NM_033413	NA	Approved	MGC16309	uc002ima.3	Q96FV0		ENST00000269025.4:c.47G>A	17.37:g.45909502G>A	ENSP00000269025:p.Cys16Tyr	NA		37	CCDS11518.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.644109	0.29246	.	.	ENSG00000141294	ENST00000269025	T	0.75050	-0.9	5.69	3.57	0.40892	.	0.589593	0.17425	N	0.174671	T	0.53738	0.1815	L	0.27053	0.805	0.29634	N	0.845248	P	0.44877	0.845	B	0.41619	0.361	T	0.54899	-0.8224	10	0.02654	T	1	-4.0105	5.8611	0.18747	0.0979:0.0:0.712:0.1901	.	16	Q96FV0	LRC46_HUMAN	Y	16	ENSP00000269025:C16Y	ENSP00000269025:C16Y	C	+	2	0	LRRC46	43264501	0.980000	0.34600	0.984000	0.44739	0.686000	0.39977	1.122000	0.31295	1.381000	0.46364	0.561000	0.74099	TGC	LRRC46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000441377.1		+	ENST00000269025.4	Missense_Mutation	SNP	17 : 45909502 - 45909502 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	754	61
SF3B3	23450	broad.mit.edu	37	16	70589068	70589068	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70589068G>A	ENST00000302516.5	+	13	1880	c.1669G>A	c.(1669-1671)Gcc>Acc	p.A557T		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	557					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AGTGGTGATTGCCCTGACAGG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													287	271	277			NA	NA	16		NA											NA				70589068		2198	4300	6498	SO:0001583	missense			AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091	23450	23450			10770	protein-coding gene	gene with protein product		605592	splicing factor 3b, subunit 3, 130kD		NA	10490618	Standard	NM_012426	NM_012426	NA	Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.1669G>A	16.37:g.70589068G>A	ENSP00000305790:p.Ala557Thr	NA	Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	37	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890067	0.91889	.	.	ENSG00000189091	ENST00000302516	T	0.19105	2.17	5.73	5.73	0.89815	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.39759	0.1090	M	0.79258	2.445	0.80722	D	1	P	0.45011	0.848	P	0.47941	0.562	T	0.23797	-1.0178	10	0.59425	D	0.04	.	19.888	0.96917	0.0:0.0:1.0:0.0	.	557	Q15393	SF3B3_HUMAN	T	557	ENSP00000305790:A557T	ENSP00000305790:A557T	A	+	1	0	SF3B3	69146569	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.835000	0.99442	2.720000	0.93068	0.591000	0.81541	GCC	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268972.1		+	ENST00000302516.5	Missense_Mutation	SNP	16 : 70589068 - 70589068 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	734	114
SLCO5A1	81796	broad.mit.edu	37	8	70744219	70744219	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70744219C>T	ENST00000524945.1	-	1	1406	c.690G>A	c.(688-690)tcG>tcA	p.S230S	SLCO5A1_ENST00000260126.4_Silent_p.S230S|SLCO5A1_ENST00000530307.1_Silent_p.S230S|SLCO5A1_ENST00000528658.1_5'UTR	NM_001146008.1	NP_001139480.1	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	230						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CGTTGGGGGCCGAGGCGTTCA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	36	34			NA	NA	8		NA											NA				70744219		2203	4300	6503	SO:0001819	synonymous_variant			AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571	81796	81796		Solute carriers	19046	protein-coding gene	gene with protein product		613543	solute carrier family 21 (organic anion transporter), member 15	SLC21A15	NA	12507753	Standard	NM_030958	NM_030958	NA	Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000524945.1:c.690G>A	8.37:g.70744219C>T		NA	B2RPF7	37	CCDS55243.1																																																																																			SLCO5A1-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381991.1		-	ENST00000524945.1	Silent	SNP	8 : 70744219 - 70744219 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	325	63
ARHGEF19	128272	broad.mit.edu	37	1	16534248	16534248	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16534248C>T	ENST00000270747.3	-	4	855	c.719G>A	c.(718-720)cGa>cAa	p.R240Q		NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	240					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTACACTTCGAGCCTCCAT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	51	50			NA	NA	1		NA											NA				16534248		2203	4298	6501	SO:0001583	missense			BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632	128272	128272		Rho guanine nucleotide exchange factors	26604	protein-coding gene	gene with protein product		612496			NA	12477932	Standard	NM_153213	NM_153213	NA	Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.719G>A	1.37:g.16534248C>T	ENSP00000270747:p.Arg240Gln	NA	A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	37	CCDS170.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028362	0.54790	.	.	ENSG00000142632	ENST00000270747;ENST00000421561;ENST00000375607	T;T	0.71222	-0.55;1.85	4.84	2.95	0.34219	.	2.190520	0.02212	N	0.063299	T	0.61751	0.2372	L	0.47716	1.5	0.09310	N	1	P	0.38745	0.645	B	0.30251	0.113	T	0.48258	-0.9051	10	0.27082	T	0.32	.	7.6442	0.28311	0.0:0.7994:0.0:0.2006	.	240	Q8IW93	ARHGJ_HUMAN	Q	240	ENSP00000270747:R240Q;ENSP00000396001:R240Q	ENSP00000270747:R240Q	R	-	2	0	ARHGEF19	16406835	0.005000	0.15991	0.001000	0.08648	0.006000	0.05464	1.576000	0.36504	0.448000	0.26722	0.561000	0.74099	CGA	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006289.1		-	ENST00000270747.3	Missense_Mutation	SNP	1 : 16534248 - 16534248 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	353	96
OR4A5	81318	broad.mit.edu	37	11	51411541	51411541	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:51411541C>T	ENST00000319760.6	-	1	907	c.855G>A	c.(853-855)acG>acA	p.T285T		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T285T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AATTTCTCAACGTATATATTA	0.328		NA												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)											34	36	35			NA	NA	11		NA											NA				51411541		2201	4293	6494	SO:0001819	synonymous_variant			AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840	81318	81318		GPCR / Class A : Olfactory receptors	15162	protein-coding gene	gene with protein product					NA		Standard	NM_001005272	NM_001005272	NA	Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.855G>A	11.37:g.51411541C>T		NA	Q6IF84	37	CCDS31497.1																																																																																			OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391399.1		-	ENST00000319760.6	Silent	SNP	11 : 51411541 - 51411541 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	173	30
ANKRD55	79722	broad.mit.edu	37	5	55407022	55407022	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55407022C>T	ENST00000341048.4	-	10	1704	c.1553G>A	c.(1552-1554)aGa>aAa	p.R518K	ANKRD55_ENST00000434982.2_Missense_Mutation_p.R230K|ANKRD55_ENST00000504958.2_Missense_Mutation_p.R475K	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	517										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				ACTGAGCAATCTGTCCAGCAG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	147	146			NA	NA	5		NA											NA				55407022		2203	4300	6503	SO:0001583	missense			AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512	79722	79722		Ankyrin repeat domain containing	25681	protein-coding gene	gene with protein product		615189			NA		Standard	NM_024669	XM_005248599	NA	Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.1553G>A	5.37:g.55407022C>T	ENSP00000342295:p.Arg518Lys	NA	Q3KP45|Q9HAD3	37	CCDS34161.1	.	.	.	.	.	.	.	.	.	.	.	0.152	-1.090391	0.01873	.	.	ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000504958;ENST00000434982	T;T;T	0.36878	1.46;1.23;1.58	5.63	4.77	0.60923	.	0.201254	0.44285	D	0.000473	T	0.21347	0.0514	N	0.14661	0.345	0.27934	N	0.937774	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.11567	-1.0582	10	0.15952	T	0.53	.	13.1596	0.59537	0.0:0.926:0.0:0.074	.	518;517	B3KVT8;Q3KP44	.;ANR55_HUMAN	K	518;518;475;230	ENSP00000342295:R518K;ENSP00000424230:R475K;ENSP00000429421:R230K	ENSP00000342295:R518K	R	-	2	0	ANKRD55	55442779	0.982000	0.34865	0.896000	0.35187	0.049000	0.14656	2.391000	0.44424	1.527000	0.49086	-0.136000	0.14681	AGA	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368510.4		-	ENST00000341048.4	Missense_Mutation	SNP	5 : 55407022 - 55407022 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1042	42
LMX1A	4009	broad.mit.edu	37	1	165182966	165182966	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:165182966C>T	ENST00000342310.3	-	5	963	c.581G>A	c.(580-582)cGc>cAc	p.R194H	LMX1A_ENST00000294816.2_Missense_Mutation_p.R194H|LMX1A_ENST00000367893.4_Missense_Mutation_p.R194H	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	194						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					ACGTTTGGGGCGCTTATGGTC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													243	219	227			NA	NA	1		NA											NA				165182966		2203	4300	6503	SO:0001583	missense			AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761	4009	4009		Homeoboxes / LIM class	6653	protein-coding gene	gene with protein product		600298		LMX1	NA	7698771	Standard	NM_177398	NM_177398	NA	Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.581G>A	1.37:g.165182966C>T	ENSP00000340226:p.Arg194His	NA	B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	37	CCDS1247.1	.	.	.	.	.	.	.	.	.	.	C	35	5.551736	0.96501	.	.	ENSG00000162761	ENST00000342310;ENST00000294816;ENST00000367893	D;D;D	0.95949	-3.86;-3.86;-3.86	5.64	5.64	0.86602	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96599	0.8890	L	0.52011	1.625	0.51482	D	0.999927	D	0.89917	1.0	D	0.87578	0.998	D	0.96037	0.9021	9	0.46703	T	0.11	.	19.3003	0.94141	0.0:1.0:0.0:0.0	.	194	Q8TE12	LMX1A_HUMAN	H	194	ENSP00000340226:R194H;ENSP00000294816:R194H;ENSP00000356868:R194H	ENSP00000294816:R194H	R	-	2	0	LMX1A	163449590	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.284000	0.78650	2.637000	0.89404	0.650000	0.86243	CGC	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083668.2		-	ENST00000342310.3	Missense_Mutation	SNP	1 : 165182966 - 165182966 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1252	314
NBAS	51594	broad.mit.edu	37	2	15307260	15307260	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15307260G>A	ENST00000281513.5	-	52	7053	c.7028C>T	c.(7027-7029)gCc>gTc	p.A2343V	NBAS_ENST00000441750.1_Missense_Mutation_p.A2223V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2343										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GAGAGACCCGGCTTCGGCTTC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	44	42			NA	NA	2		NA											NA				15307260		2203	4300	6503	SO:0001583	missense			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779	51594	51594			15625	protein-coding gene	gene with protein product		608025			NA	9926938, 12706883	Standard	NM_015909	NM_015909	NA	Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.7028C>T	2.37:g.15307260G>A	ENSP00000281513:p.Ala2343Val	NA	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	37	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.82|19.82	3.897598|3.897598	0.72639|0.72639	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000433283|ENST00000442506	T;T|.	0.35973|.	1.28;1.55|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75354|0.75354	0.3838|0.3838	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.998|.	T|T	0.74748|0.74748	-0.3560|-0.3560	10|5	0.87932|.	D|.	0|.	.|.	18.0294|18.0294	0.89278|0.89278	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2223;2343|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	V|S	2223;2343;156|1391	ENSP00000413201:A2223V;ENSP00000281513:A2343V|.	ENSP00000281513:A2343V|.	A|P	-|-	2|1	0|0	NBAS|NBAS	15224711|15224711	1.000000|1.000000	0.71417|0.71417	0.572000|0.572000	0.28498|0.28498	0.009000|0.009000	0.06853|0.06853	9.190000|9.190000	0.94934|0.94934	2.489000|2.489000	0.83994|0.83994	0.655000|0.655000	0.94253|0.94253	GCC|CCG	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000241638.1		-	ENST00000281513.5	Missense_Mutation	SNP	2 : 15307260 - 15307260 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	355	88
CALHM2	51063	broad.mit.edu	37	10	105207135	105207135	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105207135C>T	ENST00000260743.5	-	4	1269	c.746G>A	c.(745-747)cGc>cAc	p.R249H	CALHM2_ENST00000369788.3_Missense_Mutation_p.R249H	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	249						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						GCCAAAGAAGCGGCGCACATT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	75	78			NA	NA	10		NA											NA				105207135		2203	4300	6503	SO:0001583	missense			BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172	51063	51063			23493	protein-coding gene	gene with protein product		612235	family with sequence similarity 26, member B	FAM26B	NA	18585350	Standard	NM_015916	NM_015916	NA	Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.746G>A	10.37:g.105207135C>T	ENSP00000260743:p.Arg249His	NA	D3DR94|O95893|Q6ZUV9	37	CCDS7549.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341551	0.61073	.	.	ENSG00000138172	ENST00000369788;ENST00000260743	T;T	0.17213	2.29;2.29	5.37	4.45	0.53987	.	0.340884	0.32002	N	0.006726	T	0.10723	0.0262	N	0.13098	0.295	0.80722	D	1	P	0.37441	0.595	B	0.40199	0.322	T	0.17077	-1.0381	10	0.41790	T	0.15	-18.0115	6.8321	0.23915	0.0:0.6943:0.0:0.3057	.	249	Q9HA72	CAHM2_HUMAN	H	249	ENSP00000358803:R249H;ENSP00000260743:R249H	ENSP00000260743:R249H	R	-	2	0	CALHM2	105197125	0.861000	0.29849	1.000000	0.80357	0.990000	0.78478	1.495000	0.35627	1.251000	0.43983	0.561000	0.74099	CGC	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050159.1		-	ENST00000260743.5	Missense_Mutation	SNP	10 : 105207135 - 105207135 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	380	18
LARP1B	55132	broad.mit.edu	37	4	129012165	129012165	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:129012165G>A	ENST00000512292.1	+	6	561	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	LARP1B_ENST00000264584.5_Missense_Mutation_p.R76Q|LARP1B_ENST00000427266.1_Missense_Mutation_p.R123Q|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000394288.3_Missense_Mutation_p.R123Q|LARP1B_ENST00000441387.1_Missense_Mutation_p.R123Q|LARP1B_ENST00000432347.2_Missense_Mutation_p.R123Q|LARP1B_ENST00000326639.6_Missense_Mutation_p.R123Q			Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	123	Arg-rich.						RNA binding	p.R123L(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						GGTTGGAAGCGAGATAGAGAA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(2)											81	85	83			NA	NA	4		NA											NA				129012165		2203	4300	6503	SO:0001583	missense				CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709	55132	55132		La ribonucleoprotein domain containing	24704	protein-coding gene	gene with protein product			La ribonucleoprotein domain family, member 2	LARP2	NA	12045101	Standard	NM_018078	NM_018078	NA	Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000512292.1:c.368G>A	4.37:g.129012165G>A	ENSP00000422850:p.Arg123Gln	NA	Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	37		.	.	.	.	.	.	.	.	.	.	G	10.62	1.402398	0.25291	.	.	ENSG00000138709	ENST00000326639;ENST00000512292;ENST00000508819;ENST00000394288;ENST00000432347;ENST00000264584;ENST00000441387;ENST00000427266	T;T;T;T;T;T;T;T	0.46063	1.93;1.48;1.46;0.9;0.88;1.9;1.9;1.49	3.85	3.01	0.34805	.	0.250440	0.35936	N	0.002887	T	0.37348	0.1000	L	0.53249	1.67	0.80722	D	1	P;D;B;B	0.60575	0.459;0.988;0.057;0.116	B;P;B;B	0.48227	0.014;0.571;0.011;0.008	T	0.22730	-1.0208	10	0.13108	T	0.6	.	6.9733	0.24660	0.0895:0.0:0.7395:0.171	.	123;123;123;123	Q659C4;G3XAJ5;Q659C4-3;G3V0E9	LAR1B_HUMAN;.;.;.	Q	123;123;76;123;123;76;123;123	ENSP00000321997:R123Q;ENSP00000422850:R123Q;ENSP00000427281:R76Q;ENSP00000377829:R123Q;ENSP00000390395:R123Q;ENSP00000264584:R76Q;ENSP00000396521:R123Q;ENSP00000403586:R123Q	ENSP00000264584:R76Q	R	+	2	0	LARP1B	129231615	1.000000	0.71417	0.997000	0.53966	0.810000	0.45777	3.600000	0.54052	0.963000	0.38082	-0.237000	0.12165	CGA	LARP1B-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000364011.1		+	ENST00000512292.1	Missense_Mutation	SNP	4 : 129012165 - 129012165 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	393	71
IL4R	3566	broad.mit.edu	37	16	27373988	27373988	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27373988A>G	ENST00000395762.2	+	11	1574	c.1315A>G	c.(1315-1317)Acg>Gcg	p.T439A	IL4R_ENST00000170630.2_Missense_Mutation_p.T439A|IL4R_ENST00000543915.2_Missense_Mutation_p.T439A|IL4R_ENST00000380922.3_Missense_Mutation_p.T424A	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	439	Required for IRS1 activation and IL4- induced cell growth.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TTCGGGAAGTACGAGTGCTCA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	70	71			NA	NA	16		NA											NA				27373988		2197	4300	6497	SO:0001583	missense			X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238	3566	3566		Interleukins and interleukin receptors, CD molecules	6015	protein-coding gene	gene with protein product		147781			NA	1679753	Standard		NM_000418	NA	Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1315A>G	16.37:g.27373988A>G	ENSP00000379111:p.Thr439Ala	NA	B9EKU8|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	37	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	A	1.427	-0.571301	0.03882	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.08720	3.06;3.06;3.06;3.06	5.2	-7.59	0.01308	.	9.612440	0.00166	N	0.000001	T	0.02970	0.0088	N	0.03115	-0.41	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.001;0.001	T	0.39502	-0.9611	10	0.08599	T	0.76	-16.6382	7.3258	0.26555	0.5114:0.3494:0.1392:0.0	.	424;439;439	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	A	439;439;424;439	ENSP00000379111:T439A;ENSP00000441667:T439A;ENSP00000370309:T424A;ENSP00000170630:T439A	ENSP00000170630:T439A	T	+	1	0	IL4R	27281489	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.440000	0.02412	-1.278000	0.02408	-0.408000	0.06270	ACG	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214104.4		+	ENST00000395762.2	Missense_Mutation	SNP	16 : 27373988 - 27373988 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	515	21
N4BP2L1	90634	broad.mit.edu	37	13	32978376	32978376	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32978376C>T	ENST00000380139.4	-	4	479	c.429G>A	c.(427-429)agG>agA	p.R143R	N4BP2L1_ENST00000380133.2_Intron|N4BP2L1_ENST00000530622.2_Intron|N4BP2L1_ENST00000380130.2_Intron|N4BP2L1_ENST00000459716.1_Intron	NM_001079691.1	NP_001073159.1	Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1	143					cell killing		ATP binding			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		CCATTTCCAGCCTGAAAAGAT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	84	84			NA	NA	13		NA											NA				32978376		2203	4300	6503	SO:0001819	synonymous_variant			U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597	90634	90634			25037	protein-coding gene	gene with protein product	hypothetical gene CG018				NA	8812419	Standard	NM_052818	NM_052818	NA	Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697	ENST00000380139.4:c.429G>A	13.37:g.32978376C>T		NA	A4QN21|Q5TBK0	37	CCDS41877.1																																																																																			N4BP2L1-001	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044411.3		-	ENST00000380139.4	Silent	SNP	13 : 32978376 - 32978376 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	239	27
MSR1	4481	broad.mit.edu	37	8	16026334	16026334	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:16026334G>A	ENST00000445506.2	-	4	380	c.317C>T	c.(316-318)aCt>aTt	p.T106I	MSR1_ENST00000381998.4_Missense_Mutation_p.T88I|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000350896.3_Missense_Mutation_p.T88I|MSR1_ENST00000355282.2_Missense_Mutation_p.T88I|MSR1_ENST00000262101.5_Missense_Mutation_p.T88I			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	88	Spacer (Probable).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ATTTGCATTAGTTGAACTAAC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	152	156			NA	NA	8		NA											NA				16026334		2203	4300	6503	SO:0001583	missense			D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945	NA	4481		CD molecules	7376	protein-coding gene	gene with protein product		153622			NA	2251254	Standard		NM_138715	NA	Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000445506.2:c.317C>T	8.37:g.16026334G>A	ENSP00000405453:p.Thr106Ile	NA	D3DSP3|O60505|P21759|Q45F10	37		.	.	.	.	.	.	.	.	.	.	G	0.031	-1.332970	0.01298	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000381998	T;D;T;T;D	0.89681	-0.59;-1.97;-0.59;-0.59;-2.55	4.44	-6.07	0.02158	.	1.747220	0.02794	N	0.122370	T	0.72614	0.3482	N	0.02916	-0.46	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.64002	-0.6509	10	0.24483	T	0.36	.	9.7211	0.40304	0.2402:0.1439:0.6159:0.0	.	106;88;88;88	B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;MSRE_HUMAN	I	88;88;106;88;88	ENSP00000262100:T88I;ENSP00000262101:T88I;ENSP00000405453:T106I;ENSP00000347430:T88I;ENSP00000371428:T88I	ENSP00000262101:T88I	T	-	2	0	MSR1	16070705	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.339000	0.07832	-1.113000	0.02981	-0.355000	0.07637	ACT	MSR1-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000375985.1		-	ENST00000445506.2	Missense_Mutation	SNP	8 : 16026334 - 16026334 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	558	107
SLC25A45	283130	broad.mit.edu	37	11	65144076	65144076	+	Silent	SNP	G	G	A	rs17857132		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65144076G>A	ENST00000534028.1	-	5	1018	c.597C>T	c.(595-597)gaC>gaT	p.D199D	SLC25A45_ENST00000398802.1_Silent_p.D223D|SLC25A45_ENST00000526432.1_Silent_p.D161D|SLC25A45_ENST00000377152.2_Silent_p.D119D|SLC25A45_ENST00000360662.3_Silent_p.D199D|SLC25A45_ENST00000294187.6_Silent_p.D181D|SLC25A45_ENST00000527174.1_Silent_p.D223D|SLC25A45_ENST00000417511.2_Silent_p.D181D	NM_001278250.1	NP_001265179.1	Q8N413	S2545_HUMAN	solute carrier family 25, member 45	223					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						ACTTGATCATGTCTAAGGGCG	0.627		NA											G	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	0.001	SNP								NA				0													79	83	82			NA	NA	11		NA											NA				65144076		2149	4247	6396	SO:0001819	synonymous_variant			BC041100	CCDS41670.1, CCDS41671.1, CCDS60850.1	11q13.1	2013-05-22			ENSG00000162241	ENSG00000162241	283130	283130		Solute carriers	27442	protein-coding gene	gene with protein product		610825			NA	16949250	Standard	NM_182556	XM_006718507	NA	Approved		uc001odr.1	Q8N413	OTTHUMG00000166255	ENST00000534028.1:c.597C>T	11.37:g.65144076G>A		NA	Q6PL49|Q8IW29	37																																																																																				SLC25A45-004	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000388740.2		-	ENST00000534028.1	Silent	SNP	11 : 65144076 - 65144076 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	438	18
MBTPS1	8720	broad.mit.edu	37	16	84115363	84115363	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84115363C>T	ENST00000343411.3	-	11	1932	c.1437G>A	c.(1435-1437)aaG>aaA	p.K479K	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	479					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTGCCTGTGGCTTGTAGCTGT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	86	87			NA	NA	16		NA											NA				84115363		2200	4300	6500	SO:0001819	synonymous_variant			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943	8720	8720			15456	protein-coding gene	gene with protein product		603355	membrane-bound transcription factor protease, site 1		NA	9809072, 10944850	Standard	NM_003791	NM_003791	NA	Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.1437G>A	16.37:g.84115363C>T		NA	Q24JQ2|Q9UF67	37	CCDS10941.1																																																																																			MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269080.2		-	ENST00000343411.3	Silent	SNP	16 : 84115363 - 84115363 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	609	96
HBS1L	10767	broad.mit.edu	37	6	135317999	135317999	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135317999T>A	ENST00000367837.5	-	7	1087	c.881A>T	c.(880-882)aAg>aTg	p.K294M	HBS1L_ENST00000527578.1_Missense_Mutation_p.K130M|HBS1L_ENST00000367826.2_Missense_Mutation_p.K252M|HBS1L_ENST00000367824.4_Missense_Mutation_p.K130M|HBS1L_ENST00000445176.2_Missense_Mutation_p.K18M|HBS1L_ENST00000415177.2_Missense_Mutation_p.K229M	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	294					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		CTGTTCATACTTATGCATAGT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													186	181	183			NA	NA	6		NA											NA				135317999		2203	4300	6503	SO:0001583	missense			U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339	10767	10767			4834	protein-coding gene	gene with protein product	eRF3 family member	612450	HBS1 (S. cerevisiae)-like, HBS1-like (S. cerevisiae)		NA	9872408, 23667253	Standard		NM_006620	NA	Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.881A>T	6.37:g.135317999T>A	ENSP00000356811:p.Lys294Met	NA	B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	37	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	T	32	5.111168	0.94339	.	.	ENSG00000112339	ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000445176;ENST00000529641;ENST00000527507	T;T;T;T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.95	5.95	0.96441	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.86628	0.5978	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90160	0.4227	10	0.87932	D	0	-23.4431	16.4288	0.83833	0.0:0.0:0.0:1.0	.	252;294	Q9Y450-4;Q9Y450	.;HBS1L_HUMAN	M	294;130;229;252;130;164;18;130;130	ENSP00000356811:K294M;ENSP00000436256:K130M;ENSP00000389826:K229M;ENSP00000356800:K252M;ENSP00000356798:K130M;ENSP00000434533:K164M;ENSP00000415305:K18M;ENSP00000436620:K130M;ENSP00000432092:K130M	ENSP00000356798:K130M	K	-	2	0	HBS1L	135359692	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.993000	0.88291	2.282000	0.76494	0.533000	0.62120	AAG	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042339.2		-	ENST00000367837.5	Missense_Mutation	SNP	6 : 135317999 - 135317999 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	921	189
LYG1	129530	broad.mit.edu	37	2	99909097	99909097	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99909097G>T	ENST00000409448.1	-	5	366	c.50C>A	c.(49-51)tCt>tAt	p.S17Y	LYG1_ENST00000308528.4_Missense_Mutation_p.S17Y			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	17					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						GCTGCTTTCAGACAAGTCTAC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	117	121			NA	NA	2		NA											NA				99909097		2203	4300	6503	SO:0001583	missense			BC029126	CCDS2043.1	2q11.2	2008-02-05			ENSG00000144214	ENSG00000144214	129530	129530			27014	protein-coding gene	gene with protein product					NA	12574869	Standard	NM_174898	NM_174898	NA	Approved	SALW1939	uc002szy.3	Q8N1E2	OTTHUMG00000130639	ENST00000409448.1:c.50C>A	2.37:g.99909097G>T	ENSP00000386923:p.Ser17Tyr	NA	Q53RV9	37	CCDS2043.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.972393	0.34848	.	.	ENSG00000144214	ENST00000308528;ENST00000409448	.	.	.	4.8	3.92	0.45320	.	0.526107	0.17509	N	0.171684	T	0.31040	0.0784	N	0.22421	0.69	0.24994	N	0.99152	P	0.43701	0.815	P	0.48840	0.592	T	0.06752	-1.0809	8	.	.	.	-6.9946	8.8058	0.34936	0.102:0.0:0.898:0.0	.	17	Q8N1E2	LYG1_HUMAN	Y	17	.	.	S	-	2	0	LYG1	99275529	0.872000	0.30054	0.663000	0.29738	0.167000	0.22549	2.662000	0.46766	1.251000	0.43983	-0.136000	0.14681	TCT	LYG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330315.1		-	ENST00000409448.1	Missense_Mutation	SNP	2 : 99909097 - 99909097 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	367	64
ARHGEF1	9138	broad.mit.edu	37	19	42406492	42406492	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42406492G>A	ENST00000599846.1	+	17	1776	c.1651G>A	c.(1651-1653)Gtg>Atg	p.V551M	ARHGEF1_ENST00000337665.4_Missense_Mutation_p.V510M|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.V462M|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.V477M|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.V495M			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	495	DH.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GATCGGAGACGTGCTGCTGGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	57	58			NA	NA	19		NA											NA				42406492		2203	4300	6503	SO:0001583	missense			U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928	9138	9138		Rho guanine nucleotide exchange factors	681	protein-coding gene	gene with protein product		601855			NA	8810315, 9135076	Standard	NM_199002	NM_004706	NA	Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000599846.1:c.1651G>A	19.37:g.42406492G>A	ENSP00000470715:p.Val551Met	NA	O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	37		.	.	.	.	.	.	.	.	.	.	G	16.39	3.108719	0.56291	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000337665;ENST00000378152	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	4.25	4.25	0.50352	Dbl homology (DH) domain (5);	0.250049	0.33272	N	0.005081	T	0.69726	0.3143	L	0.31294	0.92	0.31883	N	0.618257	P;D;D;D;P	0.89917	0.661;1.0;1.0;1.0;0.796	B;D;D;D;B	0.76575	0.387;0.973;0.97;0.988;0.31	T	0.72427	-0.4297	10	0.46703	T	0.11	-27.5557	10.6247	0.45500	0.0:0.1961:0.8039:0.0	.	154;477;510;462;495	Q49AN3;Q6NX52;Q92888-3;Q92888-2;Q92888	.;.;.;.;ARHG1_HUMAN	M	495;462;510;477	ENSP00000346532:V495M;ENSP00000344429:V462M;ENSP00000337261:V510M;ENSP00000367394:V477M	ENSP00000337261:V510M	V	+	1	0	ARHGEF1	47098332	0.001000	0.12720	0.999000	0.59377	0.924000	0.55760	0.553000	0.23391	2.090000	0.63153	0.456000	0.33151	GTG	ARHGEF1-010	PUTATIVE	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000463362.1		+	ENST00000599846.1	Missense_Mutation	SNP	19 : 42406492 - 42406492 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	383	58
ZNF628	89887	broad.mit.edu	37	19	55995119	55995119	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55995119G>A	ENST00000598519.1	+	3	3112	c.2559G>A	c.(2557-2559)acG>acA	p.T853T	ZNF628_ENST00000391718.2_Silent_p.T849T			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	849	4 X approximate tandem repeats.					nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		AAGTAACCACGGTCCAGCTCC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	59	57			NA	NA	19		NA											NA				55995119		2203	4299	6502	SO:0001819	synonymous_variant			AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483	89887	89887		Zinc fingers, C2H2-type	28054	protein-coding gene	gene with protein product	Zinc finger expressed in Embryonal cells and Certain adult organs	610671			NA		Standard	XM_058964	NM_033113	NA	Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.2559G>A	19.37:g.55995119G>A		NA	Q86X34	37	CCDS33116.3																																																																																			ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317934.2		+	ENST00000598519.1	Silent	SNP	19 : 55995119 - 55995119 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	390	86
AFP	174	broad.mit.edu	37	4	74310810	74310810	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74310810G>T	ENST00000395792.2	+	7	914	c.814G>T	c.(814-816)Gga>Tga	p.G272*	AFP_ENST00000226359.2_Nonsense_Mutation_p.G272*	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	272	Albumin 2.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTGTTGCAGAGGAGATGTGCT	0.393		NA							Alpha-Fetoprotein, Hereditary Persistence of					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	120	122			NA	NA	4		NA											NA				74310810		2203	4300	6503	SO:0001587	stop_gained	Familial Cancer Database	HPAFP	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051	174	174			317	protein-coding gene	gene with protein product		104150		HPAFP	NA		Standard		NM_001134	NA	Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.814G>T	4.37:g.74310810G>T	ENSP00000379138:p.Gly272*	NA	B2RBU3	37	CCDS3556.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474626	0.63737	.	.	ENSG00000081051	ENST00000395792;ENST00000226359	.	.	.	5.44	5.44	0.79542	.	0.063410	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.6356	0.68686	0.0:0.0:1.0:0.0	.	.	.	.	X	272	.	ENSP00000226359:G272X	G	+	1	0	AFP	74529674	1.000000	0.71417	0.323000	0.25347	0.280000	0.26924	5.146000	0.64845	2.832000	0.97577	0.655000	0.94253	GGA	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252284.3		+	ENST00000395792.2	Nonsense_Mutation	SNP	4 : 74310810 - 74310810 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	565	102
PDCL3	79031	broad.mit.edu	37	2	101186141	101186141	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101186141C>T	ENST00000264254.6	+	4	704	c.326C>T	c.(325-327)gCt>gTt	p.A109V		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	109					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						GTTACCAAAGCTGGCGAGGGC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	99	100			NA	NA	2		NA											NA				101186141		2203	4298	6501	SO:0001583	missense			AF267853	CCDS33261.1	2q12	2008-02-05			ENSG00000115539	ENSG00000115539	79031	79031			28860	protein-coding gene	gene with protein product		611678			NA		Standard	NM_024065	NM_024065	NA	Approved	VIAF1	uc002tao.2	Q9H2J4	OTTHUMG00000153141	ENST00000264254.6:c.326C>T	2.37:g.101186141C>T	ENSP00000264254:p.Ala109Val	NA	B2RA00|Q53S68	37	CCDS33261.1	.	.	.	.	.	.	.	.	.	.	.	28.1	4.892454	0.91889	.	.	ENSG00000115539	ENST00000264254;ENST00000416255	T;T	0.42513	0.97;0.97	4.77	4.77	0.60923	Phosducin, thioredoxin-like domain (1);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.66117	0.2757	M	0.87547	2.89	0.80722	D	1	D	0.62365	0.991	P	0.58013	0.831	T	0.74639	-0.3598	10	0.72032	D	0.01	-21.0203	18.1468	0.89659	0.0:1.0:0.0:0.0	.	109	Q9H2J4	PDCL3_HUMAN	V	109;59	ENSP00000264254:A109V;ENSP00000413936:A59V	ENSP00000264254:A109V	A	+	2	0	PDCL3	100552573	1.000000	0.71417	0.991000	0.47740	0.889000	0.51656	7.469000	0.80959	2.347000	0.79759	0.555000	0.69702	GCT	PDCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329734.1		+	ENST00000264254.6	Missense_Mutation	SNP	2 : 101186141 - 101186141 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	646	50
DGKZ	8525	broad.mit.edu	37	11	46387834	46387834	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46387834C>T	ENST00000454345.1	+	2	153	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000527911.1_Intron|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000532868.2_Intron|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000421244.2_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	10					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GAGACATTTCCGGGGGAAGGT	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TRP/ARG,,,,,,	1,3663		0,1,1831	10	12	12		28,,,,,,	3.5	1	11		12	0,7850		0,0,3925	no	missense,intron,intron,intron,intron,intron,intron	DGKZ	NM_001105540.1,NM_001199266.1,NM_001199267.1,NM_001199268.1,NM_003646.3,NM_201532.2,NM_201533.3	101,,,,,,	0,1,5756	TT,TC,CC	NA	0.0,0.0273,0.0087	benign,,,,,,	10/1118,,,,,,	46387834	1,11513	1832	3925	5757	SO:0001583	missense			U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	8525	8525	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	diacylglycerol kinase, zeta 104kDa		NA	8626588	Standard	NM_001105540	NM_003646	NA	Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.28C>T	11.37:g.46387834C>T	ENSP00000412178:p.Arg10Trp	NA	O00542	37	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.113186	0.37339	2.73E-4	0.0	ENSG00000149091	ENST00000454345	T	0.72942	-0.7	4.53	3.48	0.39840	.	0.514132	0.14134	N	0.339146	T	0.51160	0.1658	N	0.24115	0.695	0.80722	D	1	P	0.49635	0.926	B	0.36504	0.226	T	0.57596	-0.7784	10	0.72032	D	0.01	.	8.4214	0.32703	0.2481:0.6147:0.1372:0.0	.	10	Q13574	DGKZ_HUMAN	W	10	ENSP00000412178:R10W	ENSP00000412178:R10W	R	+	1	2	DGKZ	46344410	1.000000	0.71417	0.999000	0.59377	0.470000	0.32858	3.810000	0.55613	2.234000	0.73211	0.563000	0.77884	CGG	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389772.1		+	ENST00000454345.1	Missense_Mutation	SNP	11 : 46387834 - 46387834 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	133	17
OR2J3	442186	broad.mit.edu	37	6	29079778	29079778	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29079778C>A	ENST00000377169.1	+	1	111	c.111C>A	c.(109-111)ttC>ttA	p.F37L		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TCTTGATCTTCTACTTGATGA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													271	284	280			NA	NA	6		NA											NA				29079778		1287	2580	3867	SO:0001583	missense				CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701	442186	442186		GPCR / Class A : Olfactory receptors	8261	protein-coding gene	gene with protein product		615016			NA		Standard		NM_001005216	NA	Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.111C>A	6.37:g.29079778C>A	ENSP00000366374:p.Phe37Leu	NA	B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	37	CCDS43433.1	.	.	.	.	.	.	.	.	.	.	C	4.259	0.047120	0.08243	.	.	ENSG00000204701	ENST00000377169	T	0.00625	6.14	2.78	2.78	0.32641	.	.	.	.	.	T	0.00210	0.0006	N	0.16903	0.455	0.26392	N	0.976556	B	0.17852	0.024	B	0.21151	0.033	T	0.43048	-0.9415	9	0.32370	T	0.25	.	5.3118	0.15835	0.0:0.6649:0.2122:0.1229	.	37	O76001	OR2J3_HUMAN	L	37	ENSP00000366374:F37L	ENSP00000366374:F37L	F	+	3	2	OR2J3	29187757	0.000000	0.05858	0.965000	0.40720	0.159000	0.22180	-0.819000	0.04462	1.549000	0.49425	0.436000	0.28706	TTC	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076132.2		+	ENST00000377169.1	Missense_Mutation	SNP	6 : 29079778 - 29079778 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1338	281
TTC3	7267	broad.mit.edu	37	21	38519880	38519880	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38519880T>C	ENST00000399017.2	+	22	4740	c.1993T>C	c.(1993-1995)Tac>Cac	p.Y665H	TTC3_ENST00000354749.2_Missense_Mutation_p.Y665H|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.Y665H|TTC3_ENST00000540756.1_Missense_Mutation_p.Y355H	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	665					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GATCCAGATATACATAACTGA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(38;194 1649 35661)							NA				0													115	111	112			NA	NA	21		NA											NA				38519880		2203	4300	6503	SO:0001583	missense			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670	7267	7267		RING-type (C3HC4) zinc fingers, Tetratricopeptide (TTC) repeat domain containing	12393	protein-coding gene	gene with protein product		602259			NA	8947847	Standard		NM_003316	NA	Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.1993T>C	21.37:g.38519880T>C	ENSP00000381981:p.Tyr665His	NA	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	37	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.118059	0.77323	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749	T;T;T;T;T;T;T	0.66099	1.63;-0.08;1.69;1.82;-0.19;1.82;1.82	4.88	4.88	0.63580	.	0.357825	0.24126	N	0.041314	T	0.70245	0.3202	L	0.32530	0.975	0.39491	D	0.968041	D;D	0.76494	0.998;0.999	D;D	0.83275	0.994;0.996	T	0.75121	-0.3429	10	0.87932	D	0	-14.1615	14.4552	0.67411	0.0:0.0:0.0:1.0	.	355;665	B4DSZ9;P53804	.;TTC3_HUMAN	H	665;665;647;665;355;665;665	ENSP00000403943:Y665H;ENSP00000408456:Y665H;ENSP00000391891:Y647H;ENSP00000347889:Y665H;ENSP00000442875:Y355H;ENSP00000381981:Y665H;ENSP00000346791:Y665H	ENSP00000346791:Y665H	Y	+	1	0	TTC3	37441750	1.000000	0.71417	0.993000	0.49108	0.969000	0.65631	6.518000	0.73764	1.951000	0.56629	0.528000	0.53228	TAC	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000194776.1		+	ENST00000399017.2	Missense_Mutation	SNP	21 : 38519880 - 38519880 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	472	89
CHRDL2	25884	broad.mit.edu	37	11	74424519	74424519	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74424519G>T	ENST00000376332.3	-	3	697	c.201C>A	c.(199-201)gcC>gcA	p.A67A	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Silent_p.A67A	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	67	VWFC 1.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					AACTCACATGGGCGCCCTGAA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	83	86			NA	NA	11		NA											NA				74424519		2200	4293	6493	SO:0001819	synonymous_variant			AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938	25884	25884			24168	protein-coding gene	gene with protein product		613127			NA	12853144, 12975309	Standard		NM_015424	NA	Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.201C>A	11.37:g.74424519G>T		NA	A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	37																																																																																				CHRDL2-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000385391.1		-	ENST00000376332.3	Silent	SNP	11 : 74424519 - 74424519 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	264	50
C1QTNF7	114905	broad.mit.edu	37	4	15437372	15437372	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15437372T>G	ENST00000444304.2	+	2	331	c.5T>G	c.(4-6)tTt>tGt	p.F2C	C1QTNF7_ENST00000429690.1_Missense_Mutation_p.F2C|C1QTNF7_ENST00000295297.4_Missense_Mutation_p.F9C			Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	2						collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						CCAAAGATGTTTGTCTTGCTC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	98	100			NA	NA	4		NA											NA				15437372		2203	4300	6503	SO:0001583	missense			AF329839	CCDS3414.1, CCDS47025.1	4p15.3	2008-08-29			ENSG00000163145	ENSG00000163145	114905	114905			14342	protein-coding gene	gene with protein product					NA		Standard		NM_001135170	NA	Approved	CTRP7	uc003gnp.3	Q9BXJ2	OTTHUMG00000097095	ENST00000444304.2:c.5T>G	4.37:g.15437372T>G	ENSP00000388914:p.Phe2Cys	NA	B2RBT3	37	CCDS3414.1	.	.	.	.	.	.	.	.	.	.	T	16.79	3.219555	0.58560	.	.	ENSG00000163145	ENST00000397700;ENST00000295297;ENST00000382383;ENST00000429690;ENST00000444304	D;D;D;D;D	0.91843	-2.92;-2.62;-2.79;-2.56;-2.56	5.54	5.54	0.83059	.	0.356883	0.33092	N	0.005299	D	0.86904	0.6045	N	0.24115	0.695	0.34774	D	0.733995	P	0.46277	0.875	B	0.40602	0.334	D	0.91376	0.5123	10	0.52906	T	0.07	.	15.9843	0.80138	0.0:0.0:0.0:1.0	.	2	Q9BXJ2	C1QT7_HUMAN	C	9;9;2;2;2	ENSP00000380812:F9C;ENSP00000295297:F9C;ENSP00000371820:F2C;ENSP00000410722:F2C;ENSP00000388914:F2C	ENSP00000295297:F9C	F	+	2	0	C1QTNF7	15046470	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.025000	0.64097	2.228000	0.72767	0.533000	0.62120	TTT	C1QTNF7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250891.2		+	ENST00000444304.2	Missense_Mutation	SNP	4 : 15437372 - 15437372 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	337	17
ZC3H14	79882	broad.mit.edu	37	14	89039209	89039209	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89039209G>A	ENST00000555755.1	+	6	815	c.719G>A	c.(718-720)aGt>aAt	p.S240N	ZC3H14_ENST00000557607.1_Missense_Mutation_p.S85N|ZC3H14_ENST00000359301.3_Missense_Mutation_p.S206N|ZC3H14_ENST00000251038.5_Missense_Mutation_p.S240N|ZC3H14_ENST00000556945.1_Missense_Mutation_p.S240N|ZC3H14_ENST00000302216.8_Missense_Mutation_p.S240N|ZC3H14_ENST00000393514.5_Missense_Mutation_p.S240N|ZC3H14_ENST00000336693.4_Missense_Mutation_p.S206N			Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	240						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CAGCAGAATAGTATTCATGCT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	121	121			NA	NA	14		NA											NA				89039209		2203	4300	6503	SO:0001583	missense			AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722	79882	79882		Zinc fingers, CCCH-type domain containing	20509	protein-coding gene	gene with protein product		613279			NA	10508479	Standard	NM_024824	NM_024824	NA	Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000555755.1:c.719G>A	14.37:g.89039209G>A	ENSP00000452475:p.Ser240Asn	NA	A8MY46|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	37	CCDS55938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.74|11.74	1.728675|1.728675	0.30593|0.30593	.|.	.|.	ENSG00000100722|ENSG00000100722	ENST00000251038;ENST00000393530;ENST00000353091;ENST00000359301;ENST00000302216;ENST00000380684;ENST00000556945;ENST00000557607;ENST00000555799;ENST00000555755;ENST00000393514;ENST00000336693|ENST00000556000	.|.	.|.	.|.	5.92|5.92	3.1|3.1	0.35709|0.35709	.|.	0.147633|.	0.64402|.	D|.	0.000009|.	T|T	0.29389|0.29389	0.0732|0.0732	N|N	0.10685|0.10685	0.025|0.025	0.32355|0.32355	N|N	0.557954|0.557954	B;B;B;B;B;B|.	0.14012|.	0.001;0.003;0.001;0.001;0.009;0.001|.	B;B;B;B;B;B|.	0.16722|.	0.003;0.011;0.003;0.001;0.016;0.002|.	T|T	0.36237|0.36237	-0.9756|-0.9756	9|5	0.11794|.	T|.	0.64|.	-8.3463|-8.3463	11.4889|11.4889	0.50369|0.50369	0.2368:0.0:0.7632:0.0|0.2368:0.0:0.7632:0.0	.|.	240;221;240;240;240;240|.	G3V256;F8W848;G3V5R4;Q6PJT7-2;Q6PJT7-3;Q6PJT7|.	.;.;.;.;.;ZC3HE_HUMAN|.	N|I	240;240;240;206;240;221;240;85;206;240;240;206|156	.|.	ENSP00000251038:S240N|.	S|V	+|+	2|1	0|0	ZC3H14|ZC3H14	88108962|88108962	0.965000|0.965000	0.33210|0.33210	0.993000|0.993000	0.49108|0.49108	0.943000|0.943000	0.58893|0.58893	0.683000|0.683000	0.25349|0.25349	1.513000|1.513000	0.48852|0.48852	0.655000|0.655000	0.94253|0.94253	AGT|GTA	ZC3H14-007	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410397.1		+	ENST00000555755.1	Missense_Mutation	SNP	14 : 89039209 - 89039209 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	559	99
CLIP3	25999	broad.mit.edu	37	19	36507083	36507083	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36507083G>A	ENST00000360535.4	-	14	1848	c.1621C>T	c.(1621-1623)Ctg>Ttg	p.L541L	CLIP3_ENST00000593074.1_Silent_p.L541L|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	541	GoLD.				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCCGCCCTCAGCATCCAGGGG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	87	94			NA	NA	19		NA											NA				36507083		2203	4300	6503	SO:0001819	synonymous_variant			AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270	25999	25999		Ankyrin repeat domain containing	24314	protein-coding gene	gene with protein product	CLIP-170-related, restin-like 1	607382			NA	11854307	Standard	NM_015526	NM_015526	NA	Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.1621C>T	19.37:g.36507083G>A		NA	A8K0E4|Q8WWL1|Q96C99|Q9UFT7	37	CCDS12486.1																																																																																			CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457426.1		-	ENST00000360535.4	Silent	SNP	19 : 36507083 - 36507083 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	229	46
TIE1	7075	broad.mit.edu	37	1	43779499	43779499	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43779499C>A	ENST00000372476.3	+	14	2348	c.2269C>A	c.(2269-2271)Ctg>Atg	p.L757M	TIE1_ENST00000433781.2_Missense_Mutation_p.L402M|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	757					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGAAGAGGGCCTGGATCAGCA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	44	43			NA	NA	1		NA											NA				43779499		2203	4300	6503	SO:0001583	missense			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	7075	7075	2.7.10.1	Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	11809	protein-coding gene	gene with protein product		600222	tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1	TIE	NA	1312667	Standard	NM_005424	NM_005424	NA	Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2269C>A	1.37:g.43779499C>A	ENSP00000361554:p.Leu757Met	NA		37	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.942425	0.34283	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	T;T	0.77489	-1.05;-1.1	5.63	5.63	0.86233	.	0.000000	0.31809	N	0.007030	T	0.63920	0.2552	L	0.29908	0.895	0.29938	N	0.821281	B;B;B;B	0.27351	0.114;0.07;0.07;0.176	B;B;B;B	0.18561	0.022;0.01;0.01;0.017	T	0.60581	-0.7235	10	0.34782	T	0.22	.	9.8246	0.40903	0.1543:0.6966:0.149:0.0	.	402;712;402;757	E9PG63;B4DTW8;B4DKW0;P35590	.;.;.;TIE1_HUMAN	M	757;160;40;402	ENSP00000361554:L757M;ENSP00000411728:L402M	ENSP00000361553:L160M	L	+	1	2	TIE1	43552086	0.948000	0.32251	1.000000	0.80357	0.955000	0.61496	1.931000	0.40134	2.651000	0.90000	0.655000	0.94253	CTG	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019011.1		+	ENST00000372476.3	Missense_Mutation	SNP	1 : 43779499 - 43779499 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	183	23
GNL1	2794	broad.mit.edu	37	6	30514929	30514929	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30514929G>T	ENST00000376621.3	-	10	2371	c.1401C>A	c.(1399-1401)ccC>ccA	p.P467P		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	467					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GTTCCGCTGAGGGGTCCTCAG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	100	98			NA	NA	6		NA											NA				30514929		1511	2708	4219	SO:0001819	synonymous_variant				CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590	2794	2794			4413	protein-coding gene	gene with protein product		143024			NA	8180467	Standard		NM_005275	NA	Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.1401C>A	6.37:g.30514929G>T		NA	B0S838|Q96CT5	37	CCDS4680.1																																																																																			GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076241.2		-	ENST00000376621.3	Silent	SNP	6 : 30514929 - 30514929 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	686	117
MAST4	375449	broad.mit.edu	37	5	66462832	66462832	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66462832C>T	ENST00000403625.2	+	29	8120	c.7825C>T	c.(7825-7827)Cgg>Tgg	p.R2609W	MAST4_ENST00000261569.7_Missense_Mutation_p.R2415W|MAST4_ENST00000403666.1_Missense_Mutation_p.R2420W|MAST4_ENST00000404260.3_Missense_Mutation_p.R2612W|MAST4_ENST00000405643.1_Missense_Mutation_p.R2430W	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2612						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		ACGGCAGAGGCGGGGGAAAGA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	19	19			NA	NA	5		NA											NA				66462832		1911	4098	6009	SO:0001583	missense			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020	375449	375449			19037	protein-coding gene	gene with protein product					NA	9205841	Standard		NM_198828	NA	Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.7825C>T	5.37:g.66462832C>T	ENSP00000385727:p.Arg2609Trp	NA	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	37	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.8|22.8	4.335850|4.335850	0.81801|0.81801	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000443808|ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	.|T;T;T;T;T	.|0.74632	.|-0.85;-0.85;-0.86;-0.86;-0.83	5.49|5.49	3.53|3.53	0.40419|0.40419	.|.	.|0.000000	.|0.48286	.|D	.|0.000196	T|T	0.77870|0.77870	0.4195|0.4195	L|L	0.34521|0.34521	1.04|1.04	0.32490|0.32490	N|N	0.540319|0.540319	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.74674	.|0.981;0.984	T|T	0.82303|0.82303	-0.0524|-0.0524	5|10	.|0.87932	.|D	.|0	-19.1121|-19.1121	11.8895|11.8895	0.52620|0.52620	0.1412:0.7306:0.1282:0.0|0.1412:0.7306:0.1282:0.0	.|.	.|2612;2420	.|O15021;O15021-3	.|MAST4_HUMAN;.	V|W	1665|2612;2609;2420;2430;2430;2415	.|ENSP00000385048:R2612W;ENSP00000385727:R2609W;ENSP00000384313:R2420W;ENSP00000384099:R2430W;ENSP00000261569:R2415W	.|ENSP00000261569:R2415W	A|R	+|+	2|1	0|2	MAST4|MAST4	66498588|66498588	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	1.195000|1.195000	0.32186|0.32186	1.388000|1.388000	0.46506|0.46506	0.561000|0.561000	0.74099|0.74099	GCG|CGG	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326324.2		+	ENST00000403625.2	Missense_Mutation	SNP	5 : 66462832 - 66462832 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	142	13
ATP2C2	9914	broad.mit.edu	37	16	84485577	84485577	+	Missense_Mutation	SNP	C	C	A	rs146513346	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84485577C>A	ENST00000416219.2	+	18	1800	c.1711C>A	c.(1711-1713)Ctt>Att	p.L571I	ATP2C2_ENST00000262429.4_Missense_Mutation_p.L571I|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	571					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GTTTCTCGGTCTTGTGGGCAT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	94	91			NA	NA	16		NA											NA				84485577		1981	4158	6139	SO:0001583	missense			AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	9914	9914	3.6.3.8	ATPases / P-type	29103	protein-coding gene	gene with protein product	secretory pathway calcium ATPase 2	613082			NA	9734811	Standard	NM_014861	XM_006721355	NA	Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000416219.2:c.1711C>A	16.37:g.84485577C>A	ENSP00000397925:p.Leu571Ile	NA	B4DU76|Q5S053|Q68CQ2	37		.	.	.	.	.	.	.	.	.	.	C	13.86	2.362537	0.41902	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	T;T	0.74526	-0.85;-0.85	4.97	4.02	0.46733	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.64402	D	0.000013	T	0.77994	0.4214	L	0.45422	1.42	0.49483	D	0.999795	P;B;B;B	0.34934	0.476;0.264;0.421;0.31	P;B;B;B	0.51777	0.679;0.175;0.396;0.268	T	0.77091	-0.2716	10	0.48119	T	0.1	.	12.4434	0.55637	0.0:0.9179:0.0:0.0821	.	571;420;588;571	E7ES94;F8WAA5;O75185-2;O75185	.;.;.;AT2C2_HUMAN	I	571;571;420	ENSP00000397925:L571I;ENSP00000262429:L571I	ENSP00000262429:L571I	L	+	1	0	ATP2C2	83043078	0.998000	0.40836	0.070000	0.20053	0.025000	0.11179	3.669000	0.54561	1.094000	0.41399	0.491000	0.48974	CTT	ATP2C2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000433405.1		+	ENST00000416219.2	Missense_Mutation	SNP	16 : 84485577 - 84485577 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	841	80
ATAD5	79915	broad.mit.edu	37	17	29162657	29162657	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29162657T>G	ENST00000321990.4	+	2	1936	c.1558T>G	c.(1558-1560)Tta>Gta	p.L520V	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	520					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TAGAATGAGTTTAAGACAAAG	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	66	62			NA	NA	17		NA											NA				29162657		2196	4291	6487	SO:0001583	missense				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208	79915	79915		ATPases / AAA-type	25752	protein-coding gene	gene with protein product	enhanced level of genomic instability 1 homolog (S. cerevisiae)	609534	chromosome 17 open reading frame 41	C17orf41	NA	15983387, 11468690, 19755857	Standard	NM_024857	NM_024857	NA	Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.1558T>G	17.37:g.29162657T>G	ENSP00000313171:p.Leu520Val	NA	Q05DH0|Q69YR6|Q9H9I1	37	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	T	7.925	0.739325	0.15642	.	.	ENSG00000176208	ENST00000321990	T	0.09911	2.93	5.76	4.67	0.58626	.	6.041910	0.00166	N	0.000001	T	0.09949	0.0244	L	0.43923	1.385	0.20975	N	0.999815	B;B	0.31193	0.312;0.108	B;B	0.25884	0.064;0.025	T	0.48091	-0.9065	10	0.02654	T	1	.	7.0325	0.24975	0.0:0.0747:0.2951:0.6302	.	520;520	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	V	520	ENSP00000313171:L520V	ENSP00000313171:L520V	L	+	1	2	ATAD5	26186783	0.816000	0.29132	1.000000	0.80357	0.983000	0.72400	0.313000	0.19415	0.989000	0.38761	0.533000	0.62120	TTA	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256206.2		+	ENST00000321990.4	Missense_Mutation	SNP	17 : 29162657 - 29162657 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	387	75
ERMARD	55780	broad.mit.edu	37	6	170181441	170181441	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170181441C>A	ENST00000588451.1	+	17	1974	c.1461C>A	c.(1459-1461)atC>atA	p.I487I	ERMARD_ENST00000418781.3_Silent_p.I550I|ERMARD_ENST00000366772.2_Silent_p.I576I|ERMARD_ENST00000366773.3_Silent_p.I623I|ERMARD_ENST00000392095.4_Silent_p.I497I					ER membrane-associated RNA degradation	623											NA						TAAAGTCGATCTTGCAGTACA	0.318		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	6		NA											NA				170181441		2203	4300	6503	SO:0001819	synonymous_variant			AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023	55780	55780			21056	protein-coding gene	gene with protein product		615532	chromosome 6 open reading frame 70	C6orf70	NA	23768067	Standard	NM_018341	NM_018341	NA	Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000588451.1:c.1461C>A	6.37:g.170181441C>A		NA		37																																																																																				ERMARD-007	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000451451.1		+	ENST00000588451.1	Silent	SNP	6 : 170181441 - 170181441 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	197	48
XDH	7498	broad.mit.edu	37	2	31573079	31573079	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31573079C>T	ENST00000379416.3	-	25	2690	c.2642G>A	c.(2641-2643)cGa>cAa	p.R881Q		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	881					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.R881Q(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GAATAAAGCTCGTTCCATAAT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(66;682 1445 30109 40147)							NA				1	Substitution - Missense(1)	large_intestine(1)											68	73	71			NA	NA	2		NA											NA				31573079		2203	4300	6503	SO:0001583	missense			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	7498	7498	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	xanthene dehydrogenase		NA	8224915	Standard	NM_000379	NM_000379	NA	Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.2642G>A	2.37:g.31573079C>T	ENSP00000368727:p.Arg881Gln	NA	Q16681|Q16712|Q4PJ16	37	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167243	0.38315	.	.	ENSG00000158125	ENST00000379416	T	0.38887	1.11	5.85	4.98	0.66077	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.000000	0.85682	D	0.000000	T	0.44540	0.1298	M	0.75150	2.29	0.80722	D	1	P	0.36315	0.547	B	0.33690	0.168	T	0.46911	-0.9157	10	0.46703	T	0.11	.	14.6649	0.68901	0.0:0.9297:0.0:0.0703	.	881	P47989	XDH_HUMAN	Q	881	ENSP00000368727:R881Q	ENSP00000368727:R881Q	R	-	2	0	XDH	31426583	0.996000	0.38824	0.837000	0.33122	0.024000	0.10985	3.984000	0.56923	1.485000	0.48380	0.650000	0.86243	CGA	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216840.1		-	ENST00000379416.3	Missense_Mutation	SNP	2 : 31573079 - 31573079 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	584	108
DOCK1	1793	broad.mit.edu	37	10	129202634	129202634	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129202634C>T	ENST00000280333.6	+	40	4109	c.4000C>T	c.(4000-4002)Ccc>Tcc	p.P1334S		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1334	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AGTGATCAGGCCCAAGCCTGA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	66	66			NA	NA	10		NA											NA				129202634		1870	4105	5975	SO:0001583	missense			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760	1793	1793			2987	protein-coding gene	gene with protein product	DOwnstream of CrK	601403	dedicator of cyto-kinesis 1		NA	8657152, 8661160	Standard	NM_001380	XM_006717681	NA	Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4000C>T	10.37:g.129202634C>T	ENSP00000280333:p.Pro1334Ser	NA	A9Z1Z5	37		.	.	.	.	.	.	.	.	.	.	C	25.8	4.673705	0.88445	.	.	ENSG00000150760	ENST00000280333	T	0.03951	3.75	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.23766	0.0575	M	0.84326	2.69	0.80722	D	1	D;D;D	0.89917	0.99;1.0;0.999	P;D;D	0.76575	0.826;0.988;0.952	T	0.01545	-1.1328	10	0.26408	T	0.33	.	18.8174	0.92081	0.0:1.0:0.0:0.0	.	1334;1400;1334	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	S	1334	ENSP00000280333:P1334S	ENSP00000280333:P1334S	P	+	1	0	DOCK1	129092624	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.529000	0.81952	2.746000	0.94184	0.655000	0.94253	CCC	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000050979.2		+	ENST00000280333.6	Missense_Mutation	SNP	10 : 129202634 - 129202634 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	174	29
EPS8	2059	broad.mit.edu	37	12	15807132	15807132	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15807132A>G	ENST00000540613.1	-	6	817	c.417T>C	c.(415-417)aaT>aaC	p.N139N	EPS8_ENST00000281172.5_Silent_p.N399N|EPS8_ENST00000543612.1_Silent_p.N399N|EPS8_ENST00000543523.1_Silent_p.N399N|EPS8_ENST00000542903.1_Silent_p.N139N			Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	399					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		GTTCATCACCATTGACAGTAT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	109	116			NA	NA	12		NA											NA				15807132		2203	4300	6503	SO:0001819	synonymous_variant			U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491	NA	2059			3420	protein-coding gene	gene with protein product		600206			NA	8084614	Standard		NM_004447	NA	Approved		uc001rdb.3	Q12929		ENST00000540613.1:c.417T>C	12.37:g.15807132A>G		NA	A6NMC3|Q8N6J0	37																																																																																				EPS8-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000401095.1		-	ENST00000540613.1	Silent	SNP	12 : 15807132 - 15807132 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	438	85
TMEM41A	90407	broad.mit.edu	37	3	185209335	185209335	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185209335T>G	ENST00000296254.3	-	0	509				TMEM41A_ENST00000475480.1_Intron|TMEM41A_ENST00000421852.1_Missense_Mutation_p.K262T			Q96HV5	TM41A_HUMAN	transmembrane protein 41A	NA						integral to membrane				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TCATGTGTCTTTTCTACTGTG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	140	143			NA	NA	3		NA											NA				185209335		2203	4300	6503	SO:0001624	3_prime_UTR_variant			BC019884	CCDS3271.1	3q27.2	2006-04-12			ENSG00000163900	ENSG00000163900	90407	90407			30544	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_080652	NM_080652	NA	Approved	MGC15397	uc003fpj.2	Q96HV5	OTTHUMG00000156660	ENST00000296254.3:c.*205A>C	3.37:g.185209335T>G		NA	A8K4B3|D3DNU2|Q6ZMJ0	37		.	.	.	.	.	.	.	.	.	.	T	15.88	2.964913	0.53507	.	.	ENSG00000163900	ENST00000421852	.	.	.	5.69	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.50480	0.1618	M	0.70275	2.135	0.80722	D	1	P	0.47106	0.89	B	0.40901	0.343	T	0.58994	-0.7537	9	0.72032	D	0.01	-15.9716	9.7811	0.40649	0.0:0.0774:0.0:0.9226	.	262	Q96HV5	TM41A_HUMAN	T	262	.	ENSP00000406885:K262T	K	-	2	0	TMEM41A	186692029	0.997000	0.39634	0.999000	0.59377	0.499000	0.33736	2.946000	0.49050	2.178000	0.69098	0.533000	0.62120	AAA	TMEM41A-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000345178.1		-	ENST00000296254.3	3'UTR	SNP	3 : 185209335 - 185209335 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	242	55
LEMD2	221496	broad.mit.edu	37	6	33752178	33752178	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33752178G>A	ENST00000293760.5	-	3	823	c.804C>T	c.(802-804)gcC>gcT	p.A268A	LEMD2_ENST00000508327.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	268						integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						GCTCCAGCAAGGCTGCCTTCT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	91	94			NA	NA	6		NA											NA				33752178		2203	4300	6503	SO:0001819	synonymous_variant				CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904	221496	221496			21244	protein-coding gene	gene with protein product					NA	12477932	Standard	XM_166338	NM_001143944	NA	Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.804C>T	6.37:g.33752178G>A		NA	Q5T972|Q5T974	37	CCDS4785.1																																																																																			LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040209.3		-	ENST00000293760.5	Silent	SNP	6 : 33752178 - 33752178 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	495	89
PCBP3	54039	broad.mit.edu	37	21	47329321	47329321	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47329321C>T	ENST00000400314.1	+	8	730	c.392C>T	c.(391-393)aCg>aTg	p.T131M	PCBP3_ENST00000400309.1_Missense_Mutation_p.T131M|PCBP3_ENST00000449640.1_Missense_Mutation_p.T131M|PCBP3_ENST00000400310.1_Missense_Mutation_p.T131M|PCBP3_ENST00000400304.1_Missense_Mutation_p.T99M|PCBP3_ENST00000400308.1_Missense_Mutation_p.T131M			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	131	KH 2.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CCCCCAGTGACGCTGAGGCTG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	65	62			NA	NA	21		NA											NA				47329321		2098	4249	6347	SO:0001583	missense			AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570	54039	54039			8651	protein-coding gene	gene with protein product		608502	poly(rC)-binding protein 3		NA	10936052	Standard		NM_020528	NA	Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.392C>T	21.37:g.47329321C>T	ENSP00000383168:p.Thr131Met	NA	A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	37	CCDS42974.2	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105317	0.77096	.	.	ENSG00000183570	ENST00000400314;ENST00000400310;ENST00000400309;ENST00000400308;ENST00000449640;ENST00000346743;ENST00000400305;ENST00000400304	T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3	5.0	5.0	0.66597	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.67841	0.2936	M	0.89163	3.01	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.997;0.956;1.0;0.999;0.978;1.0;0.986	T	0.75331	-0.3355	10	0.87932	D	0	-20.0627	18.6823	0.91551	0.0:1.0:0.0:0.0	.	99;131;99;131;131;131;131	Q5MJP6;P57721-3;E9PFP8;P57721-2;P57721-4;P57721;P57721-5	.;.;.;.;.;PCBP3_HUMAN;.	M	131;131;131;131;131;131;107;99	ENSP00000383168:T131M;ENSP00000383165:T131M;ENSP00000383164:T131M;ENSP00000383163:T131M;ENSP00000401198:T131M;ENSP00000383160:T107M;ENSP00000383159:T99M	ENSP00000330225:T131M	T	+	2	0	PCBP3	46153749	1.000000	0.71417	0.360000	0.25837	0.615000	0.37417	7.331000	0.79192	2.502000	0.84385	0.655000	0.94253	ACG	PCBP3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206808.2		+	ENST00000400314.1	Missense_Mutation	SNP	21 : 47329321 - 47329321 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	451	109
VEPH1	79674	broad.mit.edu	37	3	157188105	157188105	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157188105G>A	ENST00000362010.2	-	3	659	c.352C>T	c.(352-354)Cag>Tag	p.Q118*	VEPH1_ENST00000392832.2_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000537559.1_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000468233.1_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000392833.2_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000494677.1_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000543418.1_Nonsense_Mutation_p.Q118*	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	118						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TGACATACCTGTAAAATGCAA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	70	71			NA	NA	3		NA											NA				157188105		2203	4300	6503	SO:0001587	stop_gained			AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415	79674	79674		Pleckstrin homology (PH) domain containing	25735	protein-coding gene	gene with protein product		609594	ventricular zone expressed PH domain homolog 1 (zebrafish)		NA	11214970, 15388229	Standard	NM_024621	NM_024621	NA	Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.352C>T	3.37:g.157188105G>A	ENSP00000354919:p.Gln118*	NA	D3DNL0|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	37	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	G	37	6.267774	0.97426	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832;ENST00000479987;ENST00000494677;ENST00000537559;ENST00000468233;ENST00000487753	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-19.1046	19.1841	0.93635	0.0:0.0:1.0:0.0	.	.	.	.	X	118;118;118;118;6;118;118;118;118	.	ENSP00000354919:Q118X	Q	-	1	0	VEPH1	158670799	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.338000	0.96553	2.537000	0.85549	0.655000	0.94253	CAG	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351845.3		-	ENST00000362010.2	Nonsense_Mutation	SNP	3 : 157188105 - 157188105 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	228	30
FLNC	2318	broad.mit.edu	37	7	128489608	128489608	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128489608C>T	ENST00000325888.8	+	30	5436	c.5175C>T	c.(5173-5175)atC>atT	p.I1725I	FLNC_ENST00000346177.6_Silent_p.I1725I	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1725					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTGAGCACATCCCCAACAGCC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	66	63			NA	NA	7		NA											NA				128489608		2050	4196	6246	SO:0001819	synonymous_variant			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591	2318	2318			3756	protein-coding gene	gene with protein product	actin binding protein 280	102565	filamin C, gamma (actin binding protein 280)	FLN2	NA	7689010, 8088838	Standard		NM_001458	NA	Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5175C>T	7.37:g.128489608C>T		NA	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	37	CCDS43644.1																																																																																			FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059948.3		+	ENST00000325888.8	Silent	SNP	7 : 128489608 - 128489608 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	59
SLC17A4	10050	broad.mit.edu	37	6	25769379	25769379	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25769379G>A	ENST00000377905.4	+	3	377	c.258G>A	c.(256-258)caG>caA	p.Q86Q	SLC17A4_ENST00000439485.2_Silent_p.Q86Q|SLC17A4_ENST00000397076.2_Silent_p.Q32Q	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	86					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTGACTCCCAGGGCTACTGGA	0.428		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	71	76	74		258	1.6	0.1	6		74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC17A4	NM_005495.2		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		86/498	25769379	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039	10050	10050		Solute carriers	10932	protein-coding gene	gene with protein product		604216	solute carrier family 17 (sodium phosphate), member 4		NA	10319585	Standard		NM_005495	NA	Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.258G>A	6.37:g.25769379G>A		NA	Q32MB7	37	CCDS4564.1																																																																																			SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040068.1		+	ENST00000377905.4	Silent	SNP	6 : 25769379 - 25769379 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	373	72
SUSD2	56241	broad.mit.edu	37	22	24583271	24583271	+	Missense_Mutation	SNP	G	G	A	rs116324909	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24583271G>A	ENST00000358321.3	+	11	2005	c.1744G>A	c.(1744-1746)Gtc>Atc	p.V582I		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	582	VWFD.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GAGTGTGTCCGTCCTGCTGCC	0.657		NA											G	3	0.0014	0.01	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0014	1	LOWCOV,EXOME	NA	NA	8e-04	SNP								NA				0								G	ILE/VAL	14,4392	20.2+/-43.8	0,14,2189	174	135	148		1744	1.1	0.1	22	dbSNP_132	148	0,8600		0,0,4300	yes	missense	SUSD2	NM_019601.3	29	0,14,6489	AA,AG,GG	NA	0.0,0.3177,0.1076	possibly-damaging	582/823	24583271	14,12992	2203	4300	6503	SO:0001583	missense			AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994	56241	56241			30667	protein-coding gene	gene with protein product		615825			NA	12477932	Standard	NM_019601	NM_019601	NA	Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.1744G>A	22.37:g.24583271G>A	ENSP00000351075:p.Val582Ile	NA	Q9H5Y6	37	CCDS13824.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	9.542	1.113576	0.20795	0.003177	0.0	ENSG00000099994	ENST00000358321	T	0.60797	0.16	4.49	1.1	0.20463	von Willebrand factor, type D domain (3);	0.124624	0.53938	N	0.000055	T	0.36166	0.0957	L	0.53617	1.68	0.33002	D	0.526427	B	0.28470	0.213	B	0.23018	0.043	T	0.41680	-0.9495	10	0.26408	T	0.33	-35.7097	7.3624	0.26754	0.3256:0.0:0.6744:0.0	.	582	Q9UGT4	SUSD2_HUMAN	I	582	ENSP00000351075:V582I	ENSP00000351075:V582I	V	+	1	0	SUSD2	22913271	0.988000	0.35896	0.139000	0.22197	0.023000	0.10783	1.336000	0.33850	0.071000	0.16664	0.549000	0.68633	GTC	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320088.1		+	ENST00000358321.3	Missense_Mutation	SNP	22 : 24583271 - 24583271 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	258	11
MAPRE2	10982	broad.mit.edu	37	18	32720277	32720277	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:32720277C>T	ENST00000436190.2	+	8	1166	c.892C>T	c.(892-894)Ccg>Tcg	p.P298S	MAPRE2_ENST00000589699.1_Missense_Mutation_p.P267S|MAPRE2_ENST00000413393.1_Missense_Mutation_p.P267S|MAPRE2_ENST00000300249.5_Missense_Mutation_p.P310S|MAPRE2_ENST00000538170.2_Missense_Mutation_p.P257S	NM_001143827.2	NP_001137299.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	310	APC-binding.|DCTN1-binding.|EB1 C-terminal.				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						CACAGAAGAGCCGGAAGCAGA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	86	84			NA	NA	18		NA											NA				32720277		2201	4300	6501	SO:0001583	missense			X94232	CCDS11910.1, CCDS45850.1, CCDS45851.1, CCDS58619.1	18q12.1	2013-01-17			ENSG00000166974	ENSG00000166974	10982	10982			6891	protein-coding gene	gene with protein product	APC-binding protein EB1	605789			NA	9233623, 12475954	Standard	NM_014268	NM_001143826	NA	Approved	RP1, EB1, EB2	uc010xcc.3	Q15555	OTTHUMG00000132551	ENST00000436190.2:c.892C>T	18.37:g.32720277C>T	ENSP00000407723:p.Pro298Ser	NA	B2RE21|Q9UQ33	37	CCDS45850.1	.	.	.	.	.	.	.	.	.	.	C	8.891	0.954079	0.18431	.	.	ENSG00000166974	ENST00000413393;ENST00000436190;ENST00000300249;ENST00000538170	T;T;T;T	0.42513	1.0;0.97;0.99;0.97	5.42	3.55	0.40652	.	0.426342	0.26143	N	0.026096	T	0.24353	0.0590	N	0.14661	0.345	0.31443	N	0.671777	B;B;B	0.10296	0.001;0.001;0.003	B;B;B	0.09377	0.001;0.004;0.003	T	0.17018	-1.0383	10	0.09843	T	0.71	-1.0451	14.0384	0.64660	0.0:0.7117:0.2883:0.0	.	298;257;310	E9PHR3;F5H1V8;Q15555	.;.;MARE2_HUMAN	S	267;298;310;257	ENSP00000396074:P267S;ENSP00000407723:P298S;ENSP00000300249:P310S;ENSP00000446343:P257S	ENSP00000300249:P310S	P	+	1	0	MAPRE2	30974275	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	3.233000	0.51311	0.585000	0.29608	0.563000	0.77884	CCG	MAPRE2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442239.3		+	ENST00000436190.2	Missense_Mutation	SNP	18 : 32720277 - 32720277 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	163	22
RBM47	54502	broad.mit.edu	37	4	40440526	40440526	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40440526G>A	ENST00000381793.2	-	3	781	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C	RBM47_ENST00000514014.1_Missense_Mutation_p.R91C|RBM47_ENST00000295971.7_Missense_Mutation_p.R129C|RBM47_ENST00000381795.6_Missense_Mutation_p.R129C|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000319592.4_Missense_Mutation_p.R129C			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	129	RRM 1.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TTGAGCTCACGCACTGCGCGC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	50	53			NA	NA	4		NA											NA				40440526		2203	4300	6503	SO:0001583	missense			AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694	54502	54502		RNA binding motif (RRM) containing	30358	protein-coding gene	gene with protein product					NA		Standard	NM_019027	NM_019027	NA	Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.385C>T	4.37:g.40440526G>A	ENSP00000371212:p.Arg129Cys	NA	A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	37	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.026464	0.54683	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014;ENST00000515053;ENST00000513473;ENST00000505414;ENST00000514782	T;T;T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27	5.44	4.56	0.56223	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.35480	0.0933	M	0.62723	1.935	0.80722	D	1	D;B	0.89917	1.0;0.024	D;B	0.63703	0.917;0.075	T	0.06534	-1.0821	10	0.87932	D	0	-17.4793	13.1056	0.59246	0.0:0.0:0.6489:0.3511	.	129;129	A0AV96-2;A0AV96	.;RBM47_HUMAN	C	129;129;129;129;91;129;129;129;129	ENSP00000320108:R129C;ENSP00000371212:R129C;ENSP00000371214:R129C;ENSP00000295971:R129C;ENSP00000423243:R91C;ENSP00000422564:R129C;ENSP00000421589:R129C;ENSP00000423527:R129C;ENSP00000426542:R129C	ENSP00000295971:R129C	R	-	1	0	RBM47	40135283	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	3.959000	0.56744	2.554000	0.86153	0.313000	0.20887	CGT	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250456.2		-	ENST00000381793.2	Missense_Mutation	SNP	4 : 40440526 - 40440526 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	391	67
WNK4	65266	broad.mit.edu	37	17	40947651	40947651	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40947651C>T	ENST00000246914.5	+	16	3052	c.3031C>T	c.(3031-3033)Ccg>Tcg	p.P1011S		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1011					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AGAGGGAAAGCCGCAGCTTGT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(6;201 374 4964 23855 42828)							NA				0													79	79	79			NA	NA	17		NA											NA				40947651		2203	4300	6503	SO:0001583	missense			AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562	65266	65266			14544	protein-coding gene	gene with protein product		601844	protein kinase, lysine deficient 4	PRKWNK4	NA		Standard		NM_032387	NA	Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.3031C>T	17.37:g.40947651C>T	ENSP00000246914:p.Pro1011Ser	NA	Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	37	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.489984	0.44249	.	.	ENSG00000126562	ENST00000246914	D	0.83075	-1.68	5.75	5.75	0.90469	.	0.000000	0.47455	D	0.000223	D	0.82277	0.5002	L	0.42245	1.32	0.80722	D	1	P;P	0.51537	0.946;0.787	P;B	0.46253	0.509;0.158	D	0.84168	0.0432	10	0.66056	D	0.02	-22.9051	18.1118	0.89538	0.0:1.0:0.0:0.0	.	1011;1011	Q96J92-3;Q96J92	.;WNK4_HUMAN	S	1011	ENSP00000246914:P1011S	ENSP00000246914:P1011S	P	+	1	0	WNK4	38201177	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	2.574000	0.46016	2.720000	0.93068	0.491000	0.48974	CCG	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452389.1		+	ENST00000246914.5	Missense_Mutation	SNP	17 : 40947651 - 40947651 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	451	78
FNDC1	84624	broad.mit.edu	37	6	159672509	159672509	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159672509C>T	ENST00000297267.9	+	17	5210	c.5010C>T	c.(5008-5010)tgC>tgT	p.C1670C	FNDC1_ENST00000340366.6_Silent_p.C1607C	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1670	Fibronectin type-III 5.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TGGAAGGTTGCCACTCATTTG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	59	60			NA	NA	6		NA											NA				159672509		2045	4202	6247	SO:0001819	synonymous_variant			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694	84624	84624		Fibronectin type III domain containing	21184	protein-coding gene	gene with protein product		609991	fibronectin type III domain containing 2	FNDC2	NA	11347906	Standard	NM_032532	NM_032532	NA	Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.5010C>T	6.37:g.159672509C>T		NA	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	37	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	C	9.593	1.126630	0.20959	.	.	ENSG00000164694	ENST00000329629	.	.	.	5.51	3.64	0.41730	.	.	.	.	.	T	0.47395	0.1443	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46303	-0.9201	4	.	.	.	-25.3864	9.9334	0.41537	0.0:0.7665:0.0:0.2335	.	.	.	.	S	1566	.	.	P	+	1	0	FNDC1	159592499	0.995000	0.38212	1.000000	0.80357	0.981000	0.71138	0.426000	0.21363	1.264000	0.44198	0.585000	0.79938	CCA	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042897.3		+	ENST00000297267.9	Silent	SNP	6 : 159672509 - 159672509 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	134	18
ANO8	57719	broad.mit.edu	37	19	17443792	17443792	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17443792G>A	ENST00000159087.4	-	5	691	c.533C>T	c.(532-534)gCc>gTc	p.A178V		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	178						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						TCCCTGCTTGGCACGCAAATT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	60	62			NA	NA	19		NA											NA				17443792		2203	4300	6503	SO:0001583	missense			AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855	57719	57719		Ion channels / Chloride channels : Calcium activated : Anoctamins	29329	protein-coding gene	gene with protein product		610216	KIAA1623, transmembrane protein 16H	KIAA1623, TMEM16H	NA	10997877, 24692353	Standard	XM_050644	NM_020959	NA	Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.533C>T	19.37:g.17443792G>A	ENSP00000159087:p.Ala178Val	NA	A6NIJ0	37	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	G	35	5.507049	0.96386	.	.	ENSG00000074855	ENST00000159087	T	0.64438	-0.1	5.32	5.32	0.75619	.	0.166846	0.52532	D	0.000076	T	0.77758	0.4178	M	0.84683	2.71	0.47949	D	0.999559	D	0.56521	0.976	P	0.58577	0.841	T	0.77504	-0.2563	10	0.30854	T	0.27	.	16.4823	0.84161	0.0:0.0:1.0:0.0	.	178	Q9HCE9	ANO8_HUMAN	V	178	ENSP00000159087:A178V	ENSP00000159087:A178V	A	-	2	0	ANO8	17304792	1.000000	0.71417	0.987000	0.45799	0.976000	0.68499	9.123000	0.94387	2.499000	0.84300	0.555000	0.69702	GCC	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462943.1		-	ENST00000159087.4	Missense_Mutation	SNP	19 : 17443792 - 17443792 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	310	58
MERTK	10461	broad.mit.edu	37	2	112722774	112722774	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112722774C>T	ENST00000295408.4	+	5	1021	c.764C>T	c.(763-765)aCg>aTg	p.T255M	MERTK_ENST00000409780.1_Missense_Mutation_p.T79M|MERTK_ENST00000421804.2_Missense_Mutation_p.T255M			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	255	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CCAGGCCTGACGGAGATGGCG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	92	99			NA	NA	2		NA											NA				112722774		2203	4300	6503	SO:0001583	missense			U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208	10461	10461		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	7027	protein-coding gene	gene with protein product		604705	c-mer proto-oncogene tyrosine kinase		NA	8086340, 10343112	Standard		XM_005263565	NA	Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.764C>T	2.37:g.112722774C>T	ENSP00000295408:p.Thr255Met	NA	Q9HBB4	37	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.696541	0.30142	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000409780	T;T;T	0.13657	2.57;2.57;2.57	5.6	4.7	0.59300	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.34460	U	0.003950	T	0.29524	0.0736	L	0.61218	1.895	0.09310	N	1	D	0.89917	1.0	D	0.64506	0.926	T	0.07966	-1.0745	10	0.87932	D	0	-16.4748	9.1185	0.36773	0.2841:0.592:0.1239:0.0	.	255	Q12866	MERTK_HUMAN	M	255;255;79	ENSP00000295408:T255M;ENSP00000389152:T255M;ENSP00000387277:T79M	ENSP00000295408:T255M	T	+	2	0	MERTK	112439245	0.875000	0.30112	0.609000	0.28983	0.053000	0.15095	1.785000	0.38684	1.308000	0.44962	0.563000	0.77884	ACG	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254046.2		+	ENST00000295408.4	Missense_Mutation	SNP	2 : 112722774 - 112722774 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	387	60
RSL24D1	51187	broad.mit.edu	37	15	55483181	55483181	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55483181T>A	ENST00000260443.4	-	3	436	c.260A>T	c.(259-261)aAt>aTt	p.N87I		NM_016304.2	NP_057388.1	Q9UHA3	RLP24_HUMAN	ribosomal L24 domain containing 1	87					ribosome biogenesis|translation	nucleolus|ribosome	structural constituent of ribosome			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	7						ACTAGTTTTATTCCATAGCTC	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	105	106			NA	NA	15		NA											NA				55483181		2193	4289	6482	SO:0001583	missense			AF201949	CCDS10152.1	15q21	2009-02-27	2009-02-27	2009-02-27	ENSG00000137876	ENSG00000137876	51187	51187			18479	protein-coding gene	gene with protein product		613262	chromosome 15 open reading frame 15	C15orf15	NA	12808088, 11707418	Standard	NM_016304	NM_016304	NA	Approved	HRP-L30-iso, L30, RPL24L, RPL24	uc002acn.3	Q9UHA3	OTTHUMG00000131957	ENST00000260443.4:c.260A>T	15.37:g.55483181T>A	ENSP00000260443:p.Asn87Ile	NA	B2RD72|Q561V8|Q8N6S8|Q96B04|Q96C76|Q96HJ1	37	CCDS10152.1	.	.	.	.	.	.	.	.	.	.	T	12.92	2.083419	0.36758	.	.	ENSG00000137876	ENST00000260443	.	.	.	4.99	2.61	0.31194	.	0.365309	0.34067	N	0.004288	T	0.37348	0.1000	L	0.38175	1.15	0.39358	D	0.965879	P	0.40398	0.716	B	0.37833	0.259	T	0.11203	-1.0597	9	0.35671	T	0.21	-35.9334	7.1273	0.25479	0.0:0.1844:0.0:0.8156	.	87	Q9UHA3	RLP24_HUMAN	I	87	.	ENSP00000260443:N87I	N	-	2	0	RSL24D1	53270473	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.726000	0.25984	0.316000	0.23135	-0.290000	0.09829	AAT	RSL24D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254916.1		-	ENST00000260443.4	Missense_Mutation	SNP	15 : 55483181 - 55483181 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	186	32
RYR2	6262	broad.mit.edu	37	1	237754106	237754106	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237754106C>A	ENST00000366574.2	+	31	4291	c.3974C>A	c.(3973-3975)gCt>gAt	p.A1325D	RYR2_ENST00000542537.1_Missense_Mutation_p.A1309D|RYR2_ENST00000360064.6_Missense_Mutation_p.A1323D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1325	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.A1323D(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTCCCTGGGGCTGGCCTTTTT	0.522		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)											103	101	101			NA	NA	1		NA											NA				237754106		1921	4130	6051	SO:0001583	missense			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626	6262	6262		Ion channels / Ryanodine receptors, EF-hand domain containing	10484	protein-coding gene	gene with protein product		180902	arrhythmogenic right ventricular dysplasia 2	ARVD2	NA	2380170, 8406504, 11159936	Standard	NM_001035	NM_001035	NA	Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3974C>A	1.37:g.237754106C>A	ENSP00000355533:p.Ala1325Asp	NA	Q15411|Q546N8|Q5T3P2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	c	17.32	3.359127	0.61403	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96685	-4.09;-4.06;-4.08	5.23	5.23	0.72850	.	0.561410	0.15324	N	0.268379	D	0.92622	0.7656	N	0.19112	0.55	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	D	0.86901	0.2054	10	0.25751	T	0.34	.	19.3556	0.94412	0.0:1.0:0.0:0.0	.	1325	Q92736	RYR2_HUMAN	D	1325;1323;1309	ENSP00000355533:A1325D;ENSP00000353174:A1323D;ENSP00000443798:A1309D	ENSP00000353174:A1323D	A	+	2	0	RYR2	235820729	0.063000	0.20901	0.047000	0.18901	0.981000	0.71138	3.020000	0.49643	2.882000	0.98803	0.655000	0.94253	GCT	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095402.2		+	ENST00000366574.2	Missense_Mutation	SNP	1 : 237754106 - 237754106 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	672	192
WEE2	494551	broad.mit.edu	37	7	141420796	141420796	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141420796C>T	ENST00000397541.2	+	5	1226	c.820C>T	c.(820-822)Cgt>Tgt	p.R274C	WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000471512.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	274	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CCATGTGGTACGTTACTATTC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	136	139			NA	NA	7		NA											NA				141420796		1903	4116	6019	SO:0001583	missense			AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102	494551	494551			19684	protein-coding gene	gene with protein product		614084			NA		Standard	NM_001105558	NM_001105558	NA	Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.820C>T	7.37:g.141420796C>T	ENSP00000380675:p.Arg274Cys	NA		37	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925600	0.92319	.	.	ENSG00000214102	ENST00000397541;ENST00000493845	T;T	0.68181	0.88;-0.31	5.53	4.65	0.58169	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000001	D	0.84986	0.5594	H	0.95780	3.72	0.80722	D	1	D	0.56035	0.974	P	0.59357	0.856	D	0.89509	0.3770	10	0.87932	D	0	.	14.5441	0.68015	0.0:0.9296:0.0:0.0704	.	274	P0C1S8	WEE2_HUMAN	C	274;49	ENSP00000380675:R274C;ENSP00000420388:R49C	ENSP00000380675:R274C	R	+	1	0	WEE2	141067265	1.000000	0.71417	0.776000	0.31678	0.983000	0.72400	4.624000	0.61254	1.342000	0.45619	0.655000	0.94253	CGT	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349091.1		+	ENST00000397541.2	Missense_Mutation	SNP	7 : 141420796 - 141420796 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	706	118
BTBD7	55727	broad.mit.edu	37	14	93712552	93712552	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93712552G>A	ENST00000334746.5	-	10	2509	c.2202C>T	c.(2200-2202)cgC>cgT	p.R734R	BTBD7_ENST00000554565.1_Silent_p.R383R|BTBD7_ENST00000393170.2_Silent_p.R308R	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	734										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TACTGTTTACGCGACATCTCC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	121	122			NA	NA	14		NA											NA				93712552		2203	4300	6503	SO:0001819	synonymous_variant			AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114	55727	55727		BTB/POZ domain containing	18269	protein-coding gene	gene with protein product		610386			NA	10819331, 11527404	Standard	NM_001002860	NM_001289133	NA	Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.2202C>T	14.37:g.93712552G>A		NA	A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	37	CCDS32146.1																																																																																			BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412701.1		-	ENST00000334746.5	Silent	SNP	14 : 93712552 - 93712552 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	829	112
GPR153	387509	broad.mit.edu	37	1	6313786	6313786	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6313786G>A	ENST00000377893.2	-	3	1037	c.778C>T	c.(778-780)Cct>Tct	p.P260S		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	260						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		ACCAGCACAGGGAAGCCCATG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	94	93			NA	NA	1		NA											NA				6313786		2203	4300	6503	SO:0001583	missense			AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292	387509	387509		GPCR / Class A : Orphans	23618	protein-coding gene	gene with protein product		614269			NA	12679517	Standard		NM_207370	NA	Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.778C>T	1.37:g.6313786G>A	ENSP00000367125:p.Pro260Ser	NA	Q5TGR5|Q6AHW8|Q86SP8	37	CCDS64.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549552	0.86127	.	.	ENSG00000158292	ENST00000377893	T	0.35973	1.28	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.50803	0.1637	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54282	-0.8317	10	0.87932	D	0	-38.9726	17.1055	0.86662	0.0:0.0:1.0:0.0	.	260	Q6NV75	GP153_HUMAN	S	260	ENSP00000367125:P260S	ENSP00000367125:P260S	P	-	1	0	GPR153	6236373	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.790000	0.99075	2.384000	0.81235	0.462000	0.41574	CCT	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000003717.2		-	ENST00000377893.2	Missense_Mutation	SNP	1 : 6313786 - 6313786 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	437	72
RXFP3	51289	broad.mit.edu	37	5	33937494	33937494	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33937494C>T	ENST00000330120.3	+	1	1004	c.649C>T	c.(649-651)Ctg>Ttg	p.L217L		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	217						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GGCCAAGGCGCTGTGTGTGTG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	30	30			NA	NA	5		NA											NA				33937494		2202	4300	6502	SO:0001819	synonymous_variant			D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631	51289	51289		GPCR / Class A : Relaxin family peptide receptors	24883	protein-coding gene	gene with protein product		609445	relaxin 3 receptor 1, relaxin family peptide receptor 3	RLN3R1	NA	15956688, 16507880	Standard	NM_016568	NM_016568	NA	Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.649C>T	5.37:g.33937494C>T		NA	Q14DA5	37	CCDS3900.1																																																																																			RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207369.1		+	ENST00000330120.3	Silent	SNP	5 : 33937494 - 33937494 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	250	41
FAM196A	642938	broad.mit.edu	37	10	128973575	128973575	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:128973575A>C	ENST00000522781.1	-	4	1640	c.1085T>G	c.(1084-1086)cTt>cGt	p.L362R	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.L362R	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	362										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CATCATCTGAAGTTGTGCTTT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	181	179			NA	NA	10		NA											NA				128973575		2203	4300	6503	SO:0001583	missense				CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916	642938	642938			33859	protein-coding gene	gene with protein product			chromosome 10 open reading frame 141	C10orf141	NA		Standard	NM_001039762	NM_001039762	NA	Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.1085T>G	10.37:g.128973575A>C	ENSP00000429763:p.Leu362Arg	NA	B2RNT4	37	CCDS31312.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.296272	0.81025	.	.	ENSG00000188916	ENST00000522781;ENST00000424811	T;T	0.72615	-0.67;-0.67	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.81009	0.4734	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.83164	-0.0097	10	0.87932	D	0	.	15.1563	0.72746	1.0:0.0:0.0:0.0	.	362;362	B7ZME7;Q6ZSG2	.;F196A_HUMAN	R	362	ENSP00000429763:L362R;ENSP00000428730:L362R	ENSP00000428730:L362R	L	-	2	0	FAM196A	128863565	1.000000	0.71417	0.979000	0.43373	0.993000	0.82548	8.832000	0.92079	2.047000	0.60756	0.460000	0.39030	CTT	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050978.2		-	ENST00000522781.1	Missense_Mutation	SNP	10 : 128973575 - 128973575 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1277	242
WASL	8976	broad.mit.edu	37	7	123332856	123332856	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123332856C>A	ENST00000223023.4	-	9	1224	c.892G>T	c.(892-894)Ggt>Tgt	p.G298C		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	298	Pro-rich.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ggaggaggacctgagttgtgt	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	50	49			NA	NA	7		NA											NA				123332856		2202	4298	6500	SO:0001583	missense			D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299	8976	8976			12735	protein-coding gene	gene with protein product		605056			NA	9422512, 9322739	Standard	NM_003941	NM_003941	NA	Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.892G>T	7.37:g.123332856C>A	ENSP00000223023:p.Gly298Cys	NA	Q7Z746	37	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.556491	0.45487	.	.	ENSG00000106299	ENST00000223023	D	0.90261	-2.64	5.39	5.39	0.77823	Wiscott-Aldrich syndrome, C-terminal (1);	0.112073	0.64402	D	0.000014	D	0.90903	0.7141	L	0.60455	1.87	0.42982	D	0.994466	D	0.58620	0.983	P	0.46975	0.533	D	0.90559	0.4514	10	0.39692	T	0.17	-2.6205	19.209	0.93747	0.0:1.0:0.0:0.0	.	298	O00401	WASL_HUMAN	C	298	ENSP00000223023:G298C	ENSP00000223023:G298C	G	-	1	0	WASL	123120092	0.999000	0.42202	1.000000	0.80357	0.979000	0.70002	4.111000	0.57838	2.528000	0.85240	0.644000	0.83932	GGT	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348522.1		-	ENST00000223023.4	Missense_Mutation	SNP	7 : 123332856 - 123332856 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	468	87
OR14K1	343170	broad.mit.edu	37	1	247902647	247902647	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247902647T>C	ENST00000283225.2	+	1	731	c.731T>C	c.(730-732)aTt>aCt	p.I244T	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1	NA										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						CCTCACCTCATTGTTGTCACT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	140	143			NA	NA	1		NA											NA				247902647		2002	4169	6171	SO:0001583	missense			BK004377		1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000153230	ENSG00000153230	343170	343170		GPCR / Class A : Olfactory receptors	15025	protein-coding gene	gene with protein product			olfactory receptor, family 5, subfamily AY, member 1	OR5AY1	NA		Standard	NM_001004732	NG_007559	NA	Approved			Q8NGZ2	OTTHUMG00000040211	ENST00000283225.2:c.731T>C	1.37:g.247902647T>C	ENSP00000283225:p.Ile244Thr	NA		37		.	.	.	.	.	.	.	.	.	.	T	7.086	0.571119	0.13623	.	.	ENSG00000153230	ENST00000283225	T	0.37584	1.19	3.9	0.163	0.14986	.	1.783640	0.04264	U	0.340931	T	0.19485	0.0468	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.16600	-1.0397	7	0.11794	T	0.64	.	7.8887	0.29665	0.0:0.5211:0.0:0.4789	.	.	.	.	T	244	ENSP00000283225:I244T	ENSP00000283225:I244T	I	+	2	0	OR14K1	245969270	0.000000	0.05858	0.000000	0.03702	0.843000	0.47879	-1.485000	0.02314	0.115000	0.18071	0.496000	0.49642	ATT	OR14K1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000096868.1		+	ENST00000283225.2	Missense_Mutation	SNP	1 : 247902647 - 247902647 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	259	69
ZNF805	390980	broad.mit.edu	37	19	57764897	57764897	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57764897G>A	ENST00000354309.4	+	3	790	c.311G>A	c.(310-312)gGa>gAa	p.G104E	ZNF805_ENST00000414468.2_Missense_Mutation_p.G237E|ZNF805_ENST00000535550.1_Missense_Mutation_p.G104E	NM_001145078.1	NP_001138550.1	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						ACAGAGTGTGGAAAAACCTTT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	55	56			NA	NA	19		NA											NA				57764897		692	1591	2283	SO:0001583	missense			AF024708	CCDS46207.1, CCDS46208.1	19q13.43	2013-01-08			ENSG00000204524	ENSG00000204524	390980	390980		Zinc fingers, C2H2-type, -	23272	protein-coding gene	gene with protein product					NA		Standard	NM_001023563	NM_001023563	NA	Approved		uc010ygt.2	Q5CZA5		ENST00000354309.4:c.311G>A	19.37:g.57764897G>A	ENSP00000365414:p.Gly104Glu	NA	B4DNM5	37	CCDS46208.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469797	0.63625	.	.	ENSG00000204524	ENST00000535550;ENST00000414468;ENST00000354309	T;T;T	0.64803	-0.12;-0.12;-0.12	4.49	4.49	0.54785	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.75796	0.3898	L	0.59436	1.845	0.27043	N	0.963965	D	0.89917	1.0	D	0.79108	0.992	T	0.67604	-0.5628	9	0.59425	D	0.04	.	15.0543	0.71901	0.0:0.0:1.0:0.0	.	237	Q5CZA5	ZN805_HUMAN	E	104;237;104	ENSP00000440067:G104E;ENSP00000412999:G237E;ENSP00000365414:G104E	ENSP00000365414:G104E	G	+	2	0	ZNF805	62456709	0.998000	0.40836	0.998000	0.56505	0.897000	0.52465	2.460000	0.45031	2.486000	0.83907	0.655000	0.94253	GGA	ZNF805-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465721.1		+	ENST00000354309.4	Missense_Mutation	SNP	19 : 57764897 - 57764897 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	119	24
RAB8B	51762	broad.mit.edu	37	15	63551873	63551873	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63551873C>T	ENST00000321437.4	+	6	618	c.462C>T	c.(460-462)tcC>tcT	p.S154S	RAB8B_ENST00000448330.2_Silent_p.S154S	NM_016530.2	NP_057614.1	Q92930	RAB8B_HUMAN	RAB8B, member RAS oncogene family	154					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			kidney(3)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						GCGCAAAATCCAGTGCAAATG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	99	99			NA	NA	15		NA											NA				63551873		2203	4300	6503	SO:0001819	synonymous_variant			AL833365	CCDS10183.1	15q22	2008-11-18			ENSG00000166128	ENSG00000166128	51762	51762		RAB, member RAS oncogene	30273	protein-coding gene	gene with protein product		613532			NA	9030196, 18772196	Standard	NM_016530	XM_006720569	NA	Approved		uc002alz.3	Q92930	OTTHUMG00000132862	ENST00000321437.4:c.462C>T	15.37:g.63551873C>T		NA	Q5JPC4|Q9P293	37	CCDS10183.1																																																																																			RAB8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256336.1		+	ENST00000321437.4	Silent	SNP	15 : 63551873 - 63551873 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	268	45
MYO15A	51168	broad.mit.edu	37	17	18029702	18029702	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18029702A>C	ENST00000205890.5	+	5	4136	c.3798A>C	c.(3796-3798)caA>caC	p.Q1266H		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1266	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ACCCATACCAAATGTTTGGAA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	72	70			NA	NA	17		NA											NA				18029702		2060	4199	6259	SO:0001583	missense			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536	51168	51168		Myosins / Myosin superfamily : Class XV	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15	NA	9603736	Standard	NM_016239	NM_016239	NA	Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.3798A>C	17.37:g.18029702A>C	ENSP00000205890:p.Gln1266His	NA		37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	A	12.91	2.078142	0.36662	.	.	ENSG00000091536	ENST00000205890	D	0.87491	-2.26	4.76	-4.7	0.03288	Myosin head, motor domain (3);	.	.	.	.	T	0.80502	0.4635	L	0.52573	1.65	0.45979	D	0.998799	P	0.42941	0.794	B	0.42163	0.378	T	0.72880	-0.4158	9	0.66056	D	0.02	.	5.9835	0.19421	0.3199:0.1036:0.4753:0.1012	.	1266	Q9UKN7	MYO15_HUMAN	H	1266	ENSP00000205890:Q1266H	ENSP00000205890:Q1266H	Q	+	3	2	MYO15A	17970427	0.032000	0.19561	0.522000	0.27862	0.602000	0.36980	-0.287000	0.08388	-1.279000	0.02405	-1.288000	0.01363	CAA	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132048.1		+	ENST00000205890.5	Missense_Mutation	SNP	17 : 18029702 - 18029702 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	343	51
IARS	3376	broad.mit.edu	37	9	95019019	95019019	+	Missense_Mutation	SNP	G	G	A	rs144846345		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95019019G>A	ENST00000375643.3	-	20	2346	c.2080C>T	c.(2080-2082)Cgg>Tgg	p.R694W	IARS_ENST00000443024.2_Missense_Mutation_p.R694W|IARS_ENST00000447699.2_Missense_Mutation_p.R584W|IARS_ENST00000375629.3_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	694					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AGGATCCACCGGTCTGTAATG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	130	132			NA	NA	9		NA											NA				95019019		2203	4300	6503	SO:0001583	missense			AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	3376	3376	6.1.1.5	Aminoacyl tRNA synthetases / Class I	5330	protein-coding gene	gene with protein product	isoleucine tRNA ligase 1, cytoplasmic	600709			NA	8812440	Standard	NM_002161	NM_002161	NA	Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.2080C>T	9.37:g.95019019G>A	ENSP00000364794:p.Arg694Trp	NA	A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	37	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109921	0.77210	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660	T;T;T	0.19532	2.14;2.14;2.14	5.7	2.68	0.31781	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.213106	0.47093	D	0.000245	T	0.51160	0.1658	H	0.94423	3.535	0.80722	D	1	D;D	0.57257	0.979;0.977	D;P	0.64595	0.927;0.832	T	0.58470	-0.7631	10	0.87932	D	0	-8.1626	8.8918	0.35439	0.0739:0.0:0.5729:0.3532	.	694;539	P41252;Q6P0M4	SYIC_HUMAN;.	W	694;694;584;694	ENSP00000364794:R694W;ENSP00000406448:R694W;ENSP00000415020:R584W	ENSP00000364794:R694W	R	-	1	2	IARS	94058840	1.000000	0.71417	0.997000	0.53966	0.887000	0.51463	2.387000	0.44389	0.741000	0.32674	-0.314000	0.08810	CGG	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053059.2		-	ENST00000375643.3	Missense_Mutation	SNP	9 : 95019019 - 95019019 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	56
NRAP	4892	broad.mit.edu	37	10	115355411	115355411	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115355411C>T	ENST00000359988.3	-	38	4751	c.4507G>A	c.(4507-4509)Gct>Act	p.A1503T	NRAP_ENST00000369360.3_Missense_Mutation_p.A1476T|NRAP_ENST00000369358.4_Missense_Mutation_p.A1511T|NRAP_ENST00000360478.3_Missense_Mutation_p.A1468T	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1503						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)		TTGAGGCGAGCTCGGGTGAAA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													170	145	153			NA	NA	10		NA											NA				115355411		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.4507G>A	10.37:g.115355411C>T	ENSP00000353078:p.Ala1503Thr	NA	O15500|Q5VWI3|Q5VWI4|Q6MZK3|Q6N026|Q6N059|Q6NSH8|Q6PDB0|Q719H6|Q86TC5|Q86TD6|Q86TE6|Q86VF6|Q8N3R6|Q8N8F9|Q8TCH0|Q96MG4	37	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770003	0.90020	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.85212	0.5645	M	0.88105	2.93	0.43334	D	0.99537	D;D;D;D	0.89917	1.0;0.977;0.984;0.987	D;D;D;D	0.91635	0.999;0.925;0.915;0.949	D	0.86933	0.2074	10	0.72032	D	0.01	.	18.1269	0.89589	0.0:1.0:0.0:0.0	.	661;1503;1468;1503	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	T	1511;1476;1503;1468;661	ENSP00000358365:A1511T;ENSP00000358367:A1476T;ENSP00000353078:A1503T;ENSP00000353666:A1468T	ENSP00000353078:A1503T	A	-	1	0	NRAP	115345401	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.122000	0.64697	2.826000	0.97356	0.655000	0.94253	GCT	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050425.2		-	ENST00000359988.3	Missense_Mutation	SNP	10 : 115355411 - 115355411 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	396	88
INF2	64423	broad.mit.edu	37	14	105179212	105179212	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105179212C>T	ENST00000392634.4	+	18	2770	c.2658C>T	c.(2656-2658)atC>atT	p.I886I	INF2_ENST00000330634.7_Silent_p.I886I	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	886	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TTGAGGCCATCGAGCAGAAGC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	39	38			NA	NA	14		NA											NA				105179212		2075	4210	6285	SO:0001819	synonymous_variant			AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485	64423	64423			23791	protein-coding gene	gene with protein product	inverted formin 2	610982	chromosome 14 open reading frame 151, chromosome 14 open reading frame 173	C14orf151, C14orf173	NA	16818491	Standard	NM_022489	NM_001031714	NA	Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.2658C>T	14.37:g.105179212C>T		NA	Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	37	CCDS9989.2																																																																																			INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000074371.4		+	ENST00000392634.4	Silent	SNP	14 : 105179212 - 105179212 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	242	38
SCLY	51540	broad.mit.edu	37	2	238990418	238990418	+	Missense_Mutation	SNP	C	C	T	rs140009501		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238990418C>T	ENST00000254663.6	+	5	719	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	SCLY_ENST00000555827.1_Missense_Mutation_p.R185C|SCLY_ENST00000373332.3_Missense_Mutation_p.R103C|SCLY_ENST00000422984.2_Missense_Mutation_p.R91C|SCLY_ENST00000429612.2_Intron|SCLY_ENST00000409736.2_Missense_Mutation_p.R185C	NM_016510.5	NP_057594.4	Q96I15	SCLY_HUMAN	selenocysteine lyase	185					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		CGCGGCAGTCCGCCCGACCAC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)							NA				0								C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	109	91	97		577	5.8	1	2	dbSNP_134	97	0,8600		0,0,4300	no	missense	SCLY	NM_016510.5	180	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	possibly-damaging	193/454	238990418	1,13005	2203	4300	6503	SO:0001583	missense			AF175767	CCDS2524.1, CCDS2524.2	2q37.3	2008-02-05			ENSG00000132330	ENSG00000132330	51540	51540			18161	protein-coding gene	gene with protein product	putative selenocysteine lyase	611056			NA	10692412	Standard	NM_016510	NM_016510	NA	Approved	SCL	uc010fyv.4	Q96I15	OTTHUMG00000133336	ENST00000254663.6:c.577C>T	2.37:g.238990418C>T	ENSP00000254663:p.Arg193Cys	NA	B9A068|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	37	CCDS2524.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.10|16.10	3.026472|3.026472	0.54683|0.54683	2.27E-4|2.27E-4	0.0|0.0	ENSG00000132330|ENSG00000132330	ENST00000437134|ENST00000254663;ENST00000555827;ENST00000373332;ENST00000413463;ENST00000409736;ENST00000422984;ENST00000450965	.|T;T;T;D;T;T;T	.|0.87334	.|1.87;1.87;1.45;-2.24;1.45;1.87;1.45	5.84|5.84	5.84|5.84	0.93424|0.93424	.|Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91078|0.91078	0.7192|0.7192	M|M	0.92077|0.92077	3.27|3.27	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.45283	.|0.855;0.745;0.833	.|B;B;B	.|0.40410	.|0.188;0.328;0.17	D|D	0.93015|0.93015	0.6435|0.6435	5|10	.|0.87932	.|D	.|0	-17.0765|-17.0765	18.9105|18.9105	0.92483|0.92483	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|91;185;185	.|E7ESG3;Q96I15;Q96I15-2	.|.;SCLY_HUMAN;.	L|C	28|193;185;103;99;185;91;15	.|ENSP00000254663:R193C;ENSP00000450613:R185C;ENSP00000362429:R103C;ENSP00000414165:R99C;ENSP00000387162:R185C;ENSP00000416865:R91C;ENSP00000414053:R15C	.|ENSP00000254663:R185C	P|R	+|+	2|1	0|0	SCLY|SCLY	238655157|238655157	1.000000|1.000000	0.71417|0.71417	0.957000|0.957000	0.39632|0.39632	0.064000|0.064000	0.16182|0.16182	3.095000|3.095000	0.50235|0.50235	2.764000|2.764000	0.94973|0.94973	0.655000|0.655000	0.94253|0.94253	CCG|CGC	SCLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257165.3		+	ENST00000254663.6	Missense_Mutation	SNP	2 : 238990418 - 238990418 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	433	77
ZCCHC11	23318	broad.mit.edu	37	1	52896778	52896778	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52896778G>A	ENST00000371544.3	-	28	4877	c.4615C>T	c.(4615-4617)Cct>Tct	p.P1539S	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.P1540S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1539	Pro-rich.				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						ATTGCCACAGGTCTGGCAGCA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	104	108			NA	NA	1		NA											NA				52896778		2203	4300	6503	SO:0001583	missense			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744	23318	23318		Zinc fingers, CCHC domain containing	28981	protein-coding gene	gene with protein product	TUTase4	613692			NA	8724849, 12239557	Standard	XM_038288	NM_015269	NA	Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.4615C>T	1.37:g.52896778G>A	ENSP00000360599:p.Pro1539Ser	NA	A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	37	CCDS30716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.41|18.41	3.618452|3.618452	0.66787|0.66787	.|.	.|.	ENSG00000134744|ENSG00000134744	ENST00000257177;ENST00000371544|ENST00000528457	T;T|.	0.49432|.	0.78;0.79|.	5.38|5.38	4.47|4.47	0.54385|0.54385	.|.	0.376195|.	0.27513|.	N|.	0.019037|.	T|T	0.38558|0.38558	0.1045|0.1045	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	P|.	0.36027|.	0.533|.	B|.	0.30943|.	0.122|.	T|T	0.17776|0.17776	-1.0358|-1.0358	10|5	0.19147|.	T|.	0.46|.	.|.	10.2182|10.2182	0.43182|0.43182	0.1511:0.0:0.8489:0.0|0.1511:0.0:0.8489:0.0	.|.	1539|.	Q5TAX3|.	TUT4_HUMAN|.	S|I	1540;1539|41	ENSP00000257177:P1540S;ENSP00000360599:P1539S|.	ENSP00000257177:P1540S|.	P|T	-|-	1|2	0|0	ZCCHC11|ZCCHC11	52669366|52669366	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	5.062000|5.062000	0.64326|0.64326	1.275000|1.275000	0.44379|0.44379	0.563000|0.563000	0.77884|0.77884	CCT|ACC	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022462.1		-	ENST00000371544.3	Missense_Mutation	SNP	1 : 52896778 - 52896778 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	337	68
ZWINT	11130	broad.mit.edu	37	10	58118426	58118426	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:58118426G>T	ENST00000373944.3	-	7	721	c.683C>A	c.(682-684)gCt>gAt	p.A228D	ZWINT_ENST00000395405.1_Missense_Mutation_p.A228D|ZWINT_ENST00000318387.2_Missense_Mutation_p.A108D|ZWINT_ENST00000361148.6_Missense_Mutation_p.A181D|ZWINT_ENST00000460654.1_5'UTR			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	228					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						CTCAGCCTCAGCCTCAGGGAA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	53	54			NA	NA	10		NA											NA				58118426		2203	4300	6503	SO:0001583	missense			AF067656	CCDS7249.1, CCDS31205.1	10q21-q22	2013-05-01	2013-05-01		ENSG00000122952	ENSG00000122952	NA	11130			13195	protein-coding gene	gene with protein product		609177	ZW10 interactor		NA		Standard		XM_005269463	NA	Approved	KNTC2AP	uc001jka.1	O95229	OTTHUMG00000018261	ENST00000373944.3:c.683C>A	10.37:g.58118426G>T	ENSP00000363055:p.Ala228Asp	NA	Q0D2I3|Q9BWD0	37	CCDS7249.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978392	0.53720	.	.	ENSG00000122952	ENST00000373944;ENST00000395405;ENST00000318387;ENST00000361148	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	3.73	2.78	0.32641	.	0.750699	0.11474	N	0.560436	T	0.53883	0.1824	L	0.60455	1.87	0.09310	N	1	P;P	0.51351	0.944;0.944	P;P	0.47470	0.548;0.548	T	0.45352	-0.9267	10	0.72032	D	0.01	-11.8392	8.9761	0.35937	0.0:0.2273:0.7727:0.0	.	181;228	A6NNV6;O95229	.;ZWINT_HUMAN	D	228;228;108;181	ENSP00000363055:A228D;ENSP00000378801:A228D;ENSP00000322850:A108D;ENSP00000354921:A181D	ENSP00000322850:A108D	A	-	2	0	ZWINT	57788432	0.023000	0.18921	0.029000	0.17559	0.013000	0.08279	2.383000	0.44354	1.085000	0.41206	0.563000	0.77884	GCT	ZWINT-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048132.1		-	ENST00000373944.3	Missense_Mutation	SNP	10 : 58118426 - 58118426 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	70
VPS13D	55187	broad.mit.edu	37	1	12309338	12309338	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12309338C>A	ENST00000358136.3	+	6	636	c.506C>A	c.(505-507)cCt>cAt	p.P169H	VPS13D_ENST00000356315.4_Missense_Mutation_p.P169H	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	169					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCCTCCCATCCTTTTGCTTTT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	147	157			NA	NA	1		NA											NA				12309338		2203	4300	6503	SO:0001583	missense			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707	55187	55187			23595	protein-coding gene	gene with protein product		608877	vacuolar protein sorting 13D (yeast)		NA		Standard	NM_015378	NM_015378	NA	Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.506C>A	1.37:g.12309338C>A	ENSP00000350854:p.Pro169His	NA	Q58F10|Q6MZK9|Q6ZV12|Q709C4|Q709C5|Q86UB4|Q9NSJ3|Q9UIM0	37	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.292486	0.59976	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.60548	0.18;0.18	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.72835	0.3510	L	0.55743	1.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.956	T	0.74034	-0.3794	10	0.62326	D	0.03	.	18.3927	0.90489	0.0:1.0:0.0:0.0	.	169;169	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	H	169	ENSP00000348666:P169H;ENSP00000350854:P169H	ENSP00000348666:P169H	P	+	2	0	VPS13D	12231925	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	5.227000	0.65305	2.573000	0.86826	0.555000	0.69702	CCT	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000036897.2		+	ENST00000358136.3	Missense_Mutation	SNP	1 : 12309338 - 12309338 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	247	18
F5	2153	broad.mit.edu	37	1	169511289	169511289	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169511289C>T	ENST00000367796.3	-	13	3255	c.3054G>A	c.(3052-3054)caG>caA	p.Q1018Q	F5_ENST00000367797.3_Silent_p.Q1013Q			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1013	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTCCTCCATCCTGTCTTACTT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	179	175			NA	NA	1		NA											NA				169511289		2203	4300	6503	SO:0001819	synonymous_variant			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734	2153	2153			3542	protein-coding gene	gene with protein product		612309			NA		Standard	NM_000130	NM_000130	NA	Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367796.3:c.3054G>A	1.37:g.169511289C>T		NA	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	37																																																																																				F5-002	NOVEL	not_organism_supported|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000083713.1		-	ENST00000367796.3	Silent	SNP	1 : 169511289 - 169511289 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1510	351
PLEKHH2	130271	broad.mit.edu	37	2	43973084	43973084	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43973084G>A	ENST00000282406.4	+	24	3745	c.3635G>A	c.(3634-3636)cGt>cAt	p.R1212H		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1212	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGGACTGTTCGTCTGACATAC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	64	66			NA	NA	2		NA											NA				43973084		2203	4300	6503	SO:0001583	missense			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527	130271	130271		Pleckstrin homology (PH) domain containing	30506	protein-coding gene	gene with protein product		612723			NA		Standard	NM_172069	NM_172069	NA	Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.3635G>A	2.37:g.43973084G>A	ENSP00000282406:p.Arg1212His	NA	Q5JPJ6|Q6P4Q1|Q8N3Q3	37	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102805	0.76983	.	.	ENSG00000152527	ENST00000282406	T	0.54279	0.58	5.74	5.74	0.90152	Band 4.1 domain (1);FERM domain (1);	0.052470	0.85682	D	0.000000	T	0.74107	0.3673	M	0.74258	2.255	0.58432	D	0.999995	D	0.89917	1.0	D	0.75020	0.985	T	0.75345	-0.3350	10	0.66056	D	0.02	-19.9695	19.9186	0.97074	0.0:0.0:1.0:0.0	.	1212	Q8IVE3	PKHH2_HUMAN	H	1212	ENSP00000282406:R1212H	ENSP00000282406:R1212H	R	+	2	0	PLEKHH2	43826588	1.000000	0.71417	0.933000	0.37362	0.688000	0.40055	5.197000	0.65141	2.716000	0.92895	0.557000	0.71058	CGT	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250537.1		+	ENST00000282406.4	Missense_Mutation	SNP	2 : 43973084 - 43973084 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	195	39
APC	324	broad.mit.edu	37	5	112154849	112154849	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112154849C>T	ENST00000457016.1	+	10	1500	c.1120C>T	c.(1120-1122)Cgg>Tgg	p.R374W	APC_ENST00000508376.2_Missense_Mutation_p.R374W|APC_ENST00000257430.4_Missense_Mutation_p.R374W			P25054	APC_HUMAN	adenomatous polyposis coli	374	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GGGAAATTCCCGGGGCAGTAA	0.517		12	D, Mis, N, F, S		colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS	colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		E, M, O	0													68	63	65			NA	NA	5		NA											NA				112154849		2202	4300	6502	SO:0001583	missense	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982	324	324		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Armadillo repeat containing	583	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 46	611731	adenomatosis polyposis coli		NA	1651563	Standard	NM_000038	NM_001127511	NA	Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.1120C>T	5.37:g.112154849C>T	ENSP00000413133:p.Arg374Trp	NA	D3DT03|Q15162|Q15163|Q93042	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.272903	0.59649	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.93859	-2.6;-3.3;-2.6;-2.6;-2.78	5.94	5.04	0.67666	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.96009	0.8700	M	0.68317	2.08	0.48288	D	0.999625	D;D	0.89917	1.0;1.0	D;D	0.72982	0.979;0.957	D	0.96078	0.9051	10	0.87932	D	0	-11.186	16.6427	0.85130	0.1303:0.8697:0.0:0.0	.	376;374	Q4LE70;P25054	.;APC_HUMAN	W	374;356;374;374;374	ENSP00000413133:R374W;ENSP00000423224:R356W;ENSP00000257430:R374W;ENSP00000427089:R374W;ENSP00000423828:R374W	ENSP00000257430:R374W	R	+	1	2	APC	112182748	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.749000	0.55150	2.832000	0.97577	0.650000	0.86243	CGG	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250738.2		+	ENST00000457016.1	Missense_Mutation	SNP	5 : 112154849 - 112154849 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	254	11
LRRIQ1	84125	broad.mit.edu	37	12	85449460	85449460	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:85449460T>G	ENST00000393217.2	+	8	950	c.889T>G	c.(889-891)Ttt>Gtt	p.F297V		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	297	Glu-rich.|IQ 1.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATATAAAGCATTTGTTGCCTA	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	33	32			NA	NA	12		NA											NA				85449460		2199	4290	6489	SO:0001583	missense			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640	84125	84125			25708	protein-coding gene	gene with protein product					NA	11347906	Standard	NM_032165	NM_001079910	NA	Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.889T>G	12.37:g.85449460T>G	ENSP00000376910:p.Phe297Val	NA	Q567P4|Q9BS17|Q9HA36	37	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	T	10.72	1.429297	0.25726	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.55588	0.51	5.27	5.27	0.74061	.	0.616553	0.17259	N	0.180844	T	0.57932	0.2087	L	0.43923	1.385	0.28572	N	0.910581	D;P	0.63880	0.993;0.773	P;B	0.53954	0.738;0.162	T	0.56535	-0.7963	10	0.54805	T	0.06	.	13.7459	0.62874	0.0:0.0:0.0:1.0	.	297;272	Q96JM4;C9JI57	LRIQ1_HUMAN;.	V	297;272;297	ENSP00000376910:F297V	ENSP00000256007:F297V	F	+	1	0	LRRIQ1	83973591	0.367000	0.25023	0.540000	0.28089	0.191000	0.23601	2.868000	0.48436	2.004000	0.58718	0.260000	0.18958	TTT	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388249.2		+	ENST00000393217.2	Missense_Mutation	SNP	12 : 85449460 - 85449460 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	127	14
ZMAT5	55954	broad.mit.edu	37	22	30144499	30144499	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30144499C>T	ENST00000344318.3	-	2	151	c.35G>A	c.(34-36)cGc>cAc	p.R12H	ZMAT5_ENST00000397781.3_Missense_Mutation_p.R12H	NM_001003692.1	NP_001003692.1	Q9UDW3	ZMAT5_HUMAN	zinc finger, matrin-type 5	12					mRNA processing	cytoplasm|U12-type spliceosomal complex	nucleic acid binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)			CTGGAAGGAGCGGTCGCAGTA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	124	134			NA	NA	22		NA											NA				30144499		2203	4300	6503	SO:0001583	missense				CCDS13868.1	22q12.2	2013-09-20	2010-09-15		ENSG00000100319	ENSG00000100319	55954	55954		Zinc fingers, matrin-type	28046	protein-coding gene	gene with protein product	U11/U12 snRNP 20K				NA	9847074	Standard	NM_019103	NM_019103	NA	Approved	SNRNP20	uc003agn.3	Q9UDW3	OTTHUMG00000151292	ENST00000344318.3:c.35G>A	22.37:g.30144499C>T	ENSP00000344241:p.Arg12His	NA	A8K9F6	37	CCDS13868.1	.	.	.	.	.	.	.	.	.	.	C	34	5.320312	0.95682	.	.	ENSG00000100319	ENST00000344318;ENST00000397781	.	.	.	5.36	5.36	0.76844	Zinc finger, U1-C type (1);	0.000000	0.85682	D	0.000000	T	0.78916	0.4359	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.81127	-0.1074	9	0.72032	D	0.01	-32.7094	16.2369	0.82380	0.0:1.0:0.0:0.0	.	12	Q9UDW3	ZMAT5_HUMAN	H	12	.	ENSP00000344241:R12H	R	-	2	0	ZMAT5	28474499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.664000	0.68045	2.518000	0.84900	0.511000	0.50034	CGC	ZMAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322114.1		-	ENST00000344318.3	Missense_Mutation	SNP	22 : 30144499 - 30144499 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	299	28
DNAJC5G	285126	broad.mit.edu	37	2	27500629	27500629	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27500629G>A	ENST00000296097.3	+	4	539	c.121G>A	c.(121-123)Gca>Aca	p.A41T	DNAJC5G_ENST00000402462.1_Missense_Mutation_p.A41T|DNAJC5G_ENST00000406962.1_Intron|DNAJC5G_ENST00000404433.1_Intron	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	41	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding			cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCCATTCCGCATTGCTTCC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	97	98			NA	NA	2		NA											NA				27500629		2203	4300	6503	SO:0001583	missense			AF368277	CCDS1744.1	2p23	2011-09-02			ENSG00000163793	ENSG00000163793	285126	285126		Heat shock proteins / DNAJ (HSP40)	24844	protein-coding gene	gene with protein product		613946			NA		Standard	NM_173650	NM_173650	NA	Approved	FLJ40417, CSP-gamma	uc002rjl.1	Q8N7S2	OTTHUMG00000097079	ENST00000296097.3:c.121G>A	2.37:g.27500629G>A	ENSP00000296097:p.Ala41Thr	NA	Q8IYQ4|Q96RJ8	37	CCDS1744.1	.	.	.	.	.	.	.	.	.	.	g	10.75	1.439068	0.25900	.	.	ENSG00000163793	ENST00000296097;ENST00000402462	T;T	0.36878	1.23;1.23	4.23	-0.292	0.12839	Heat shock protein DnaJ, N-terminal (3);	4.417190	0.01975	N	0.044361	T	0.32912	0.0845	L	0.29908	0.895	0.09310	N	1	B	0.17852	0.024	B	0.16289	0.015	T	0.46414	-0.9193	10	0.66056	D	0.02	.	13.6002	0.62015	0.0:0.3233:0.6767:0.0	.	41	Q8N7S2	DNJ5G_HUMAN	T	41	ENSP00000296097:A41T;ENSP00000384305:A41T	ENSP00000296097:A41T	A	+	1	0	DNAJC5G	27354133	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.233000	0.09041	0.116000	0.18110	-0.387000	0.06579	GCA	DNAJC5G-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214200.1		+	ENST00000296097.3	Missense_Mutation	SNP	2 : 27500629 - 27500629 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	626	172
FRAS1	80144	broad.mit.edu	37	4	79428591	79428591	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79428591T>G	ENST00000264895.6	+	62	9773	c.9333T>G	c.(9331-9333)ttT>ttG	p.F3111L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3106	Calx-beta 5.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATCATATCTTTTTTAAAGTTG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	89	92			NA	NA	4		NA											NA				79428591		1944	4136	6080	SO:0001583	missense			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759	80144	80144			19185	protein-coding gene	gene with protein product		607830	Fraser syndrome 1		NA	12766769, 3118036	Standard		NM_025074	NA	Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.9333T>G	4.37:g.79428591T>G	ENSP00000264895:p.Phe3111Leu	NA	Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	37	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.037|9.037	0.988810|0.988810	0.18966|0.18966	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|T	0.28454|0.28895	1.61|1.59	5.25|5.25	-3.37|-3.37	0.04898|0.04898	.|.	0.645296|0.645296	0.14834|0.14834	N|N	0.295696|0.295696	T|T	0.13884|0.13884	0.0336|0.0336	N|N	0.17474|0.17474	0.49|0.49	0.80722|0.80722	D|D	1|1	B;B|.	0.06786|.	0.0;0.001|.	B;B|.	0.06405|.	0.0;0.002|.	T|T	0.22906|0.22906	-1.0203|-1.0203	10|8	0.08837|0.08837	T|T	0.75|0.75	.|.	5.8971|5.8971	0.18945|0.18945	0.1005:0.5096:0.1866:0.2032|0.1005:0.5096:0.1866:0.2032	.|.	3110;3111|.	Q86XX4-2;E9PHH6|.	.;.|.	L|V	3111|1340	ENSP00000264895:F3111L|ENSP00000422834:F1340V	ENSP00000264895:F3111L|ENSP00000422834:F1340V	F|F	+|+	3|1	2|0	FRAS1|FRAS1	79647615|79647615	0.005000|0.005000	0.15991|0.15991	0.964000|0.964000	0.40570|0.40570	0.939000|0.939000	0.58152|0.58152	-1.613000|-1.613000	0.02059|0.02059	-0.507000|-0.507000	0.06549|0.06549	-0.353000|-0.353000	0.07706|0.07706	TTT|TTT	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding			+	ENST00000264895.6	Missense_Mutation	SNP	4 : 79428591 - 79428591 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	166	24
SHMT2	6472	broad.mit.edu	37	12	57626358	57626358	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57626358G>T	ENST00000328923.3	+	6	1169	c.717G>T	c.(715-717)gaG>gaT	p.E239D	SHMT2_ENST00000414700.3_Splice_Site_p.E218D|SHMT2_ENST00000557487.1_Splice_Site_p.E229D|SHMT2_ENST00000449049.3_Splice_Site_p.E218D|SHMT2_ENST00000393827.4_Splice_Site_p.E143D|SHMT2_ENST00000553474.1_Splice_Site_p.E218D	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	239						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GCATGAGAGAGGTTGGTGGGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(150;1369 2416 49071 49364)							NA				0													58	66	63			NA	NA	12		NA											NA				57626358		2203	4300	6503	SO:0001630	splice_region_variant			AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	6472	6472	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT	NA	8999870	Standard	NM_005412	NM_005412	NA	Approved		uc001snf.2	P34897		ENST00000328923.3:c.717+1G>T	12.37:g.57626358G>T		NA	O00740	37	CCDS8934.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.7|21.7	4.183758|4.183758	0.78677|0.78677	.|.	.|.	ENSG00000182199|ENSG00000182199	ENST00000328923;ENST00000557487;ENST00000555634;ENST00000414700;ENST00000553474;ENST00000449049;ENST00000393827|ENST00000557529	T;T;T;T;T;T;T|.	0.50001|.	1.29;0.76;0.76;1.29;1.29;1.29;0.76|.	5.09|5.09	4.2|4.2	0.49525|0.49525	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.051686|.	0.85682|.	D|.	0.000000|.	T|T	0.69984|0.69984	0.3172|0.3172	M|M	0.66506|0.66506	2.035|2.035	0.54753|0.54753	D|D	0.999983|0.999983	P;B;B;P;B|.	0.45768|.	0.578;0.293;0.139;0.866;0.259|.	B;B;B;P;B|.	0.48873|.	0.388;0.297;0.12;0.593;0.174|.	T|T	0.70142|0.70142	-0.4953|-0.4953	10|5	0.59425|.	D|.	0.04|.	-0.8048|-0.8048	12.9784|12.9784	0.58549|0.58549	0.0796:0.0:0.9204:0.0|0.0796:0.0:0.9204:0.0	.|.	248;229;143;170;239|.	B4DWA7;Q8N1A5;B4DLV4;B4DP88;P34897|.	.;.;.;.;GLYM_HUMAN|.	D|C	239;229;78;218;218;218;143|39	ENSP00000333667:E239D;ENSP00000452315:E229D;ENSP00000450930:E78D;ENSP00000406881:E218D;ENSP00000452419:E218D;ENSP00000413770:E218D;ENSP00000377413:E143D|.	ENSP00000333667:E239D|.	E|G	+|+	3|1	2|0	SHMT2|SHMT2	55912625|55912625	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	8.000000|8.000000	0.88501|0.88501	1.522000|1.522000	0.49001|0.49001	0.563000|0.563000	0.77884|0.77884	GAG|GGT	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412525.2	Missense_Mutation	+	ENST00000328923.3	Splice_Site	SNP	12 : 57626358 - 57626358 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	848	138
SERPINA1	5265	broad.mit.edu	37	14	94847322	94847322	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94847322T>C	ENST00000448921.1	-	5	1375	c.803A>G	c.(802-804)tAc>tGc	p.Y268C	SERPINA1_ENST00000355814.4_Missense_Mutation_p.Y268C|SERPINA1_ENST00000402629.1_Missense_Mutation_p.Y268C|SERPINA1_ENST00000393088.4_Missense_Mutation_p.Y268C|SERPINA1_ENST00000440909.1_Missense_Mutation_p.Y268C|SERPINA1_ENST00000437397.1_Missense_Mutation_p.Y268C|SERPINA1_ENST00000393087.4_Missense_Mutation_p.Y268C|SERPINA1_ENST00000404814.4_Missense_Mutation_p.Y268C|SERPINA1_ENST00000449399.3_Missense_Mutation_p.Y268C	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	268					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	ATTGCCCAGGTATTTCATCAG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	118	125			NA	NA	14		NA											NA				94847322		2203	4300	6503	SO:0001583	missense			X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249	5265	5265		Serine (or cysteine) peptidase inhibitors	8941	protein-coding gene	gene with protein product	protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin	107400	serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	PI	NA	24172014	Standard	NM_001002235	NM_000295	NA	Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.803A>G	14.37:g.94847322T>C	ENSP00000416066:p.Tyr268Cys	NA	A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	37	CCDS9925.1	.	.	.	.	.	.	.	.	.	.	T	14.10	2.433713	0.43224	.	.	ENSG00000197249	ENST00000440909;ENST00000448921;ENST00000437397;ENST00000355814;ENST00000393087;ENST00000393088;ENST00000404814;ENST00000449399;ENST00000402629	D;D;D;D;D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51;-2.51;-2.51;-2.51;-2.51	5.05	5.05	0.67936	Serpin domain (3);	0.197104	0.35179	N	0.003382	D	0.95326	0.8483	M	0.93638	3.44	0.48830	D	0.999713	D;D	0.56521	0.97;0.976	P;D	0.63793	0.809;0.918	D	0.96388	0.9287	10	0.87932	D	0	.	14.0833	0.64939	0.0:0.0:0.0:1.0	.	268;268	P01009-2;P01009	.;A1AT_HUMAN	C	268	ENSP00000390299:Y268C;ENSP00000416066:Y268C;ENSP00000408474:Y268C;ENSP00000348068:Y268C;ENSP00000376802:Y268C;ENSP00000376803:Y268C;ENSP00000385960:Y268C;ENSP00000416354:Y268C;ENSP00000386094:Y268C	ENSP00000348068:Y268C	Y	-	2	0	SERPINA1	93917075	1.000000	0.71417	0.076000	0.20297	0.163000	0.22366	3.694000	0.54742	2.051000	0.60960	0.374000	0.22700	TAC	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317768.2		-	ENST00000448921.1	Missense_Mutation	SNP	14 : 94847322 - 94847322 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	384	64
ATAD3C	219293	broad.mit.edu	37	1	1389854	1389854	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1389854C>A	ENST00000378785.2	+	4	1347	c.352C>A	c.(352-354)Ctt>Att	p.L118I		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	118							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CATCACGGTGCTTGAGGCGCT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	39	35			NA	NA	1		NA											NA				1389854		692	1591	2283	SO:0001583	missense			AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915	219293	219293		ATPases / AAA-type	32151	protein-coding gene	gene with protein product					NA		Standard	NM_001039211	NM_001039211	NA	Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.352C>A	1.37:g.1389854C>A	ENSP00000368062:p.Leu118Ile	NA	Q8N1Z5	37	CCDS44039.1	.	.	.	.	.	.	.	.	.	.	.	6.378	0.437772	0.12104	.	.	ENSG00000215915	ENST00000378785	D	0.94280	-3.39	2.51	1.4	0.22301	.	0.515223	0.20329	N	0.094461	D	0.89259	0.6664	M	0.62723	1.935	0.32744	N	0.50728	B	0.23442	0.085	B	0.18561	0.022	D	0.86832	0.2011	10	0.40728	T	0.16	.	6.6244	0.22820	0.0:0.817:0.0:0.183	.	118	Q5T2N8	ATD3C_HUMAN	I	118	ENSP00000368062:L118I	ENSP00000368062:L118I	L	+	1	0	ATAD3C	1379717	1.000000	0.71417	0.996000	0.52242	0.090000	0.18270	2.244000	0.43124	1.224000	0.43551	0.195000	0.17529	CTT	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000001279.3		+	ENST00000378785.2	Missense_Mutation	SNP	1 : 1389854 - 1389854 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	106	11
POLE	5426	broad.mit.edu	37	12	133225918	133225918	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133225918G>T	ENST00000320574.5	-	31	4022	c.3979C>A	c.(3979-3981)Ctg>Atg	p.L1327M	POLE_ENST00000535270.1_Missense_Mutation_p.L1300M	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1327					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GGAAGGTCCAGGATGCTGCGG	0.662		NA						DNA polymerases (catalytic subunits)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	31	31			NA	NA	12		NA											NA				133225918		2203	4299	6502	SO:0001583	missense				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084	5426	5426		DNA polymerases	9177	protein-coding gene	gene with protein product	DNA polymerase epsilon catalytic subunit A	174762	polymerase (DNA directed), epsilon		NA	8020968	Standard	NM_006231	NM_006231	NA	Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.3979C>A	12.37:g.133225918G>T	ENSP00000322570:p.Leu1327Met	NA	Q13533|Q86VH9	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.558197	0.45590	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000536445	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.71	1.6	0.23607	.	0.066612	0.64402	N	0.000008	T	0.37785	0.1016	L	0.56396	1.775	0.45946	D	0.998771	B;B	0.21606	0.045;0.058	B;B	0.31245	0.126;0.059	T	0.17018	-1.0383	10	0.48119	T	0.1	.	6.7582	0.23526	0.2102:0.0:0.6645:0.1254	.	1300;1327	F5H1D6;Q07864	.;DPOE1_HUMAN	M	1327;1338;1300;1107;304	ENSP00000322570:L1327M;ENSP00000406383:L1338M;ENSP00000445753:L1300M;ENSP00000442519:L1107M	ENSP00000322570:L1327M	L	-	1	2	POLE	131735991	1.000000	0.71417	0.662000	0.29724	0.744000	0.42396	3.979000	0.56888	0.282000	0.22254	-0.300000	0.09419	CTG	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397689.2		-	ENST00000320574.5	Missense_Mutation	SNP	12 : 133225918 - 133225918 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	328	53
LRIG3	121227	broad.mit.edu	37	12	59284508	59284508	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:59284508G>A	ENST00000320743.3	-	4	740	c.454C>T	c.(454-456)Ctt>Ttt	p.L152F	LRIG3_ENST00000379141.4_Missense_Mutation_p.L92F	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	152						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TTGCTGCTAAGGTCCAAAGTT	0.383		NA	T	ROS1	NSCLC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	0													91	91	91			NA	NA	12		NA											NA				59284508		2203	4300	6503	SO:0001583	missense			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263	121227	121227		Immunoglobulin superfamily / I-set domain containing	30991	protein-coding gene	gene with protein product		608870			NA		Standard	NM_153377	NM_153377	NA	Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.454C>T	12.37:g.59284508G>A	ENSP00000326759:p.Leu152Phe	NA	Q6UXL7|Q8NC72	37	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.678552	0.68042	.	.	ENSG00000139263	ENST00000379141;ENST00000320743;ENST00000552267	T;T;T	0.30448	1.53;1.53;1.53	5.87	2.87	0.33458	.	0.000000	0.30085	N	0.010459	T	0.59348	0.2187	M	0.91090	3.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.61535	-0.7043	9	.	.	.	.	8.8768	0.35350	0.4056:0.0:0.5944:0.0	.	92;152	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	F	92;152;59	ENSP00000368436:L92F;ENSP00000326759:L152F;ENSP00000449109:L59F	.	L	-	1	0	LRIG3	57570775	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.359000	0.44142	0.388000	0.25054	-0.302000	0.09304	CTT	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406623.1		-	ENST00000320743.3	Missense_Mutation	SNP	12 : 59284508 - 59284508 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	220	49
CD1C	911	broad.mit.edu	37	1	158261152	158261152	+	Missense_Mutation	SNP	G	G	A	rs114534381	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158261152G>A	ENST00000368170.3	+	2	569	c.290G>A	c.(289-291)cGg>cAg	p.R97Q		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	97					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GGATTAACTCGGGAGATTCAA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	GLN/ARG	11,4395		0,11,2192	97	95	96		290	-2.2	0	1	dbSNP_132	96	2,8598		0,2,4298	yes	missense	CD1C	NM_001765.2	43	0,13,6490	AA,AG,GG	NA	0.0233,0.2497,0.1	benign	97/334	158261152	13,12993	2203	4300	6503	SO:0001583	missense			M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481	911	911		CD molecules, Immunoglobulin superfamily / C1-set domain containing	1636	protein-coding gene	gene with protein product		188340	CD1C antigen, c polypeptide, CD1c antigen	CD1	NA	2447586	Standard	NM_001765	NM_001765	NA	Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.290G>A	1.37:g.158261152G>A	ENSP00000357152:p.Arg97Gln	NA	Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	37	CCDS1175.1	.	.	.	.	.	.	.	.	.	.	-	5.842	0.339525	0.11069	0.002497	2.33E-4	ENSG00000158481	ENST00000368169;ENST00000368170	T	0.16897	2.31	3.52	-2.19	0.07015	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.350910	0.05551	N	0.567474	T	0.02455	0.0075	N	0.20986	0.625	0.09310	N	1	B	0.23990	0.095	B	0.12156	0.007	T	0.42732	-0.9434	10	0.21014	T	0.42	.	3.4483	0.07488	0.5132:0.0:0.2977:0.1891	.	97	P29017	CD1C_HUMAN	Q	97	ENSP00000357152:R97Q	ENSP00000357151:R97Q	R	+	2	0	CD1C	156527776	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.402000	0.02499	-0.414000	0.07495	0.650000	0.86243	CGG	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046351.2		+	ENST00000368170.3	Missense_Mutation	SNP	1 : 158261152 - 158261152 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	540	147
NAV3	89795	broad.mit.edu	37	12	78510602	78510602	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78510602A>C	ENST00000397909.2	+	13	2860	c.2687A>C	c.(2686-2688)aAc>aCc	p.N896T	NAV3_ENST00000228327.6_Missense_Mutation_p.N896T|NAV3_ENST00000266692.7_Missense_Mutation_p.N896T|NAV3_ENST00000536525.2_Missense_Mutation_p.N896T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	896						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACCCTTGATAACATCAGCACT	0.478		NA								HNSCC(70;0.22)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	169	172			NA	NA	12		NA											NA				78510602		2105	4253	6358	SO:0001583	missense			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798	89795	89795			15998	protein-coding gene	gene with protein product	pore membrane and/or filament interacting like protein 1, steerin 3	611629			NA	12079279, 12062803	Standard	NM_001024383	XM_005269215	NA	Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2687A>C	12.37:g.78510602A>C	ENSP00000381007:p.Asn896Thr	NA	Q8NFW7|Q9Y2E7	37		.	.	.	.	.	.	.	.	.	.	A	20.2	3.942704	0.73672	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.64618	0.89;0.93;0.9;-0.11	5.71	5.71	0.89125	.	0.000000	0.43260	U	0.000582	T	0.79112	0.4391	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.81914	0.98;0.992;0.995	T	0.81765	-0.0783	10	0.87932	D	0	-25.6081	15.9877	0.80174	1.0:0.0:0.0:0.0	.	896;896;896	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	T	896	ENSP00000446132:N896T;ENSP00000381007:N896T;ENSP00000228327:N896T;ENSP00000266692:N896T	ENSP00000228327:N896T	N	+	2	0	NAV3	77034733	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.300000	0.96151	2.165000	0.68154	0.455000	0.32223	AAC	NAV3-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000406812.1		+	ENST00000397909.2	Missense_Mutation	SNP	12 : 78510602 - 78510602 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	418	74
ACIN1	22985	broad.mit.edu	37	14	23528572	23528572	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23528572G>A	ENST00000262710.1	-	19	4138	c.3811C>T	c.(3811-3813)Cgg>Tgg	p.R1271W	ACIN1_ENST00000557515.1_Missense_Mutation_p.R512W|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1258W|ACIN1_ENST00000357481.2_Missense_Mutation_p.R513W|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1231W|ACIN1_ENST00000397341.3_Missense_Mutation_p.R513W|ACIN1_ENST00000338631.6_Missense_Mutation_p.R544W|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1213W	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1271	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TGTCGGTTCCGTTCCCGCTCG	0.632		NA									OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	91	99			NA	NA	14		NA											NA				23528572		2203	4300	6503	SO:0001583	missense			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813	22985	22985			17066	protein-coding gene	gene with protein product	functional spliceosome-associated protein 152	604562	apoptotic chromatin condensation inducer in the nucleus	ACINUS	NA	9734811, 10490026	Standard	NM_014977	NM_014977	NA	Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3811C>T	14.37:g.23528572G>A	ENSP00000262710:p.Arg1271Trp	764	D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	37	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.608797	0.28623	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6	4.14	3.24	0.37175	.	0.000000	0.37393	N	0.002103	T	0.42675	0.1213	N	0.24115	0.695	0.42351	D	0.992378	D;D;D;P;P	0.64830	0.994;0.99;0.975;0.912;0.912	P;B;B;B;B	0.47102	0.537;0.336;0.336;0.082;0.082	T	0.46498	-0.9187	10	0.87932	D	0	-8.9988	10.8207	0.46604	0.0:0.0:0.8102:0.1898	.	1258;1271;1231;544;513	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	W	512;544;513;1271;1231;513;1258	ENSP00000451138:R512W;ENSP00000345541:R544W;ENSP00000350073:R513W;ENSP00000262710:R1271W;ENSP00000405677:R1231W;ENSP00000380502:R513W;ENSP00000451328:R1258W	ENSP00000262710:R1271W	R	-	1	2	ACIN1	22598412	0.998000	0.40836	1.000000	0.80357	0.207000	0.24258	1.283000	0.33237	1.074000	0.40909	0.563000	0.77884	CGG	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071707.3		-	ENST00000262710.1	Missense_Mutation	SNP	14 : 23528572 - 23528572 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	290	50
ZNF44	51710	broad.mit.edu	37	19	12383526	12383526	+	Missense_Mutation	SNP	C	C	T	rs61737485	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12383526C>T	ENST00000356109.5	-	5	1806	c.1688G>A	c.(1687-1689)cGt>cAt	p.R563H	ZNF44_ENST00000355684.5_Missense_Mutation_p.R515H	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	563					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		GTAACTGAAACGACTGAAGGC	0.388		NA											C	18	0.01	0.03	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0082	0.9973	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0								C	HIS/ARG,HIS/ARG	120,3976		1,118,1929	51	52	51		1688,1544	-2	0	19	dbSNP_129	51	0,8454		0,0,4227	yes	missense,missense	ZNF44	NM_001164276.1,NM_016264.3	29,29	1,118,6156	TT,TC,CC	NA	0.0,2.9297,0.9562	benign,benign	563/664,515/616	12383526	120,12430	2048	4227	6275	SO:0001583	missense			X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857	51710	51710		Zinc fingers, C2H2-type, -	13110	protein-coding gene	gene with protein product		194542	zinc finger protein 58, zinc finger protein 44 (KOX 7), zinc finger protein 55	ZNF58, ZNF55	NA	1946370, 1505991	Standard	NM_016264	NM_016264	NA	Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000356109.5:c.1688G>A	19.37:g.12383526C>T	ENSP00000348419:p.Arg563His	NA	B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	37	CCDS54223.1	18	0.008241758241758242	17	0.034552845528455285	1	0.0027624309392265192	0	0.0	0	0.0	C	4.542	0.100647	0.08731	0.029297	0.0	ENSG00000197857	ENST00000393337;ENST00000356109;ENST00000457673;ENST00000355684	T;T;T	0.07327	3.2;3.2;3.2	0.997	-1.99	0.07457	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01523	0.0049	L	0.38953	1.18	.	.	.	B;B	0.11235	0.004;0.003	B;B	0.09377	0.004;0.001	T	0.47611	-0.9104	8	0.11485	T	0.65	.	4.0631	0.09847	0.0:0.2338:0.1945:0.5717	.	563;515	P15621;F8W7T7	ZNF44_HUMAN;.	H	563;563;515;515	ENSP00000377008:R563H;ENSP00000348419:R563H;ENSP00000347910:R515H	ENSP00000347910:R515H	R	-	2	0	ZNF44	12244526	0.000000	0.05858	0.000000	0.03702	0.839000	0.47603	-5.789000	0.00098	-1.173000	0.02758	0.305000	0.20034	CGT	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344132.1		-	ENST00000356109.5	Missense_Mutation	SNP	19 : 12383526 - 12383526 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	161	31
MVD	4597	broad.mit.edu	37	16	88721747	88721747	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88721747C>T	ENST00000301012.3	-	7	786	c.757G>A	c.(757-759)Gcc>Acc	p.A253T		NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	253					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GTCAGCTGGGCGAAGCTGGGG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													230	174	193			NA	NA	16		NA											NA				88721747		2193	4295	6488	SO:0001583	missense			U49260	CCDS10968.1	16q24.3	2010-04-29			ENSG00000167508	ENSG00000167508	4597	4597	4.1.1.33		7529	protein-coding gene	gene with protein product	mevalonate pyrophosphate decarboxylase	603236			NA	8626466	Standard	NM_002461	NM_002461	NA	Approved	MPD	uc002flg.1	P53602	OTTHUMG00000137865	ENST00000301012.3:c.757G>A	16.37:g.88721747C>T	ENSP00000301012:p.Ala253Thr	NA	Q53Y65	37	CCDS10968.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.370501|4.370501	0.82573|0.82573	.|.	.|.	ENSG00000167508|ENSG00000167508	ENST00000301012|ENST00000378400	T|.	0.37915|.	1.17|.	4.53|4.53	4.53|4.53	0.55603|0.55603	.|.	0.161617|.	0.53938|.	D|.	0.000051|.	T|T	0.78400|0.78400	0.4277|0.4277	M|M	0.80422|0.80422	2.495|2.495	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.69078|.	0.997|.	P|.	0.58520|.	0.84|.	T|T	0.82362|0.82362	-0.0495|-0.0495	10|6	0.51188|0.66056	T|D	0.08|0.02	-20.2679|-20.2679	17.6298|17.6298	0.88103|0.88103	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	253|.	P53602|.	MVD1_HUMAN|.	T|H	253|81	ENSP00000301012:A253T|.	ENSP00000301012:A253T|ENSP00000367653:R81H	A|R	-|-	1|2	0|0	MVD|MVD	87249248|87249248	0.982000|0.982000	0.34865|0.34865	0.039000|0.039000	0.18376|0.18376	0.432000|0.432000	0.31715|0.31715	5.257000|5.257000	0.65473|0.65473	2.244000|2.244000	0.73946|0.73946	0.491000|0.491000	0.48974|0.48974	GCC|CGC	MVD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269547.2		-	ENST00000301012.3	Missense_Mutation	SNP	16 : 88721747 - 88721747 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	82	8
OR1E1	8387	broad.mit.edu	37	17	3301258	3301258	+	Missense_Mutation	SNP	C	C	A	rs145403333		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3301258C>A	ENST00000322608.2	-	1	446	c.447G>T	c.(445-447)tgG>tgT	p.W149C		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						TGGTCAGCACCCAGGACAGCG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	66	72			NA	NA	17		NA											NA				3301258		2203	4300	6503	SO:0001583	missense			U04642	CCDS11024.1	17p13.3	2012-08-09			ENSG00000180016	ENSG00000180016	8387	8387		GPCR / Class A : Olfactory receptors	8189	protein-coding gene	gene with protein product				OR1E9P, OR1E5, OR1E6	NA	8004088, 1370859	Standard	NM_003553	NM_003553	NA	Approved	OR17-2, HGM071, OR17-32, OR13-66	uc002fvj.1	P30953	OTTHUMG00000090643	ENST00000322608.2:c.447G>T	17.37:g.3301258C>A	ENSP00000313384:p.Trp149Cys	NA	O43884|P47882|P47885|Q6IFA9|Q6IFM5|Q9UBJ1|Q9UM60	37	CCDS11024.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945301	0.53079	.	.	ENSG00000180016	ENST00000322608	T	0.59638	0.25	4.69	4.69	0.59074	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000020	T	0.80065	0.4555	M	0.91510	3.215	0.58432	D	0.999996	D	0.57257	0.979	D	0.65987	0.94	D	0.85183	0.1005	10	0.87932	D	0	.	16.3395	0.83078	0.0:1.0:0.0:0.0	.	149	P30953	OR1E1_HUMAN	C	149	ENSP00000313384:W149C	ENSP00000313384:W149C	W	-	3	0	OR1E1	3248008	0.035000	0.19736	1.000000	0.80357	0.776000	0.43924	0.570000	0.23653	2.449000	0.82847	0.591000	0.81541	TGG	OR1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207303.1		-	ENST00000322608.2	Missense_Mutation	SNP	17 : 3301258 - 3301258 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	242	37
ATL1	51062	broad.mit.edu	37	14	51062341	51062341	+	Silent	SNP	G	G	A	rs35629585	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51062341G>A	ENST00000441560.2	+	7	1102	c.621G>A	c.(619-621)aaG>aaA	p.K207K	ATL1_ENST00000358385.6_Silent_p.K207K|ATL1_ENST00000357032.3_Silent_p.K207K|ATL1_ENST00000354525.4_Silent_p.K207K	NM_001127713.1	NP_001121185.1	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	207					axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						CATTCCTGAAGCCATTTCAGG	0.388		NA											G	11	0.01	0.02	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.005	1	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0								G	,,	35,4371	40.0+/-72.8	0,35,2168	111	107	108	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	621,621,621	-1.4	1	14	dbSNP_126	108	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ATL1	NM_001127713.1,NM_015915.4,NM_181598.3	,,	0,35,6468	AA,AG,GG	NA	0.0,0.7944,0.2691	,,	207/554,207/559,207/554	51062341	35,12971	2203	4300	6503	SO:0001819	synonymous_variant			AF131801	CCDS9700.1, CCDS32077.1	14q21.3	2014-09-17	2008-09-17	2008-09-17	ENSG00000198513	ENSG00000198513	51062	51062			11231	protein-coding gene	gene with protein product	atlastin	606439	spastic paraplegia 3A (autosomal dominant)	SPG3, SPG3A	NA	8252041, 7825576	Standard		NM_015915	NA	Approved	FSP1, AD-FSP	uc001wyd.4	Q8WXF7	OTTHUMG00000140297	ENST00000441560.2:c.621G>A	14.37:g.51062341G>A		NA	A6NND5|A8K2C0|O95890|Q96FK0	37	CCDS32077.1																																																																																			ATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410925.1		+	ENST00000441560.2	Silent	SNP	14 : 51062341 - 51062341 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	547	108
KIF5A	3798	broad.mit.edu	37	12	57969516	57969516	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57969516G>A	ENST00000455537.2	+	17	2273	c.1999G>A	c.(1999-2001)Gag>Aag	p.E667K	KIF5A_ENST00000286452.5_Missense_Mutation_p.E578K	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	667					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CTTGAGCGATGAGCTGGCCAA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	155	157			NA	NA	12		NA											NA				57969516		2203	4300	6503	SO:0001583	missense			U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980	3798	3798		Kinesins	6323	protein-coding gene	gene with protein product		602821	spastic paraplegia 10 (autosomal dominant)	SPG10	NA	9858832, 10441583, 16489470	Standard	NM_004984	NM_004984	NA	Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.1999G>A	12.37:g.57969516G>A	ENSP00000408979:p.Glu667Lys	NA	A6H8M5|Q4LE26	37	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	G	35	5.416643	0.96092	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	D;D	0.84070	-1.8;-1.8	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	D	0.88388	0.6423	M	0.69823	2.125	0.80722	D	1	D;D	0.54772	0.968;0.968	P;P	0.58013	0.831;0.831	D	0.88780	0.3270	10	0.48119	T	0.1	.	16.2291	0.82321	0.0:0.0:1.0:0.0	.	578;667	B7Z2M7;Q12840	.;KIF5A_HUMAN	K	667;578	ENSP00000408979:E667K;ENSP00000286452:E578K	ENSP00000286452:E578K	E	+	1	0	KIF5A	56255783	1.000000	0.71417	0.992000	0.48379	0.896000	0.52359	9.570000	0.98174	2.440000	0.82611	0.655000	0.94253	GAG	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407634.1		+	ENST00000455537.2	Missense_Mutation	SNP	12 : 57969516 - 57969516 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1306	227
ETV5	2119	broad.mit.edu	37	3	185774871	185774871	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185774871G>A	ENST00000306376.5	-	11	1448	c.1202C>T	c.(1201-1203)cCg>cTg	p.P401L	ETV5_ENST00000537818.1_Missense_Mutation_p.P443L|ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000434744.1_Missense_Mutation_p.P401L	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	401					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			TACCTCTTCCGGTTCTATCAG	0.473		NA	T	TMPRSS2, SCL45A3	Prostate									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		3	3q28	2119	ets variant gene 5		E	0													88	85	86			NA	NA	3		NA											NA				185774871		2203	4300	6503	SO:0001583	missense			BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405	2119	2119			3494	protein-coding gene	gene with protein product	ets-related molecule	601600	ets variant gene 5 (ets-related molecule)		NA	8152800	Standard	NM_004454	NM_004454	NA	Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.1202C>T	3.37:g.185774871G>A	ENSP00000306894:p.Pro401Leu	NA	A6NH46|Q6IBN5	37	CCDS33906.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.796945	0.90453	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818	T;T;T	0.58652	0.32;0.32;0.32	5.69	5.69	0.88448	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	D	0.82481	0.5046	M	0.92880	3.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.86282	0.1668	10	0.87932	D	0	.	18.5905	0.91210	0.0:0.0:1.0:0.0	.	401;443	P41161;B7Z7D7	ETV5_HUMAN;.	L	401;401;443	ENSP00000306894:P401L;ENSP00000413755:P401L;ENSP00000441737:P443L	ENSP00000306894:P401L	P	-	2	0	ETV5	187257565	1.000000	0.71417	0.958000	0.39756	0.857000	0.48899	9.869000	0.99810	2.691000	0.91804	0.655000	0.94253	CCG	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344947.1		-	ENST00000306376.5	Missense_Mutation	SNP	3 : 185774871 - 185774871 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	254	43
CNNM3	26505	broad.mit.edu	37	2	97493533	97493533	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97493533A>G	ENST00000305510.3	+	4	1613	c.1585A>G	c.(1585-1587)Agt>Ggt	p.S529G	ANKRD23_ENST00000476975.1_Intron|CNNM3_ENST00000377060.3_Missense_Mutation_p.S481G	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 3	529					ion transport	integral to membrane|plasma membrane	protein binding			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						GAAGCATCCCAGTGTCAACCA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	105	109			NA	NA	2		NA											NA				97493533		2203	4300	6503	SO:0001583	missense			AF216965	CCDS2025.1, CCDS2026.1	2q11.2	2014-08-08	2014-08-07		ENSG00000168763	ENSG00000168763	26505	26505			104	protein-coding gene	gene with protein product		607804	cyclin M3	ACDP3	NA	21393841, 24632616	Standard	NM_017623	XM_005263917	NA	Approved		uc002swy.3	Q8NE01	OTTHUMG00000130531	ENST00000305510.3:c.1585A>G	2.37:g.97493533A>G	ENSP00000305449:p.Ser529Gly	NA	B3KX67|Q8TBV4|Q96IW4|Q9NRK4|Q9NXW6	37	CCDS2025.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.717725	0.48622	.	.	ENSG00000168763	ENST00000377060;ENST00000424641;ENST00000305510	D;D	0.90844	-2.47;-2.74	5.93	5.93	0.95920	.	0.049764	0.85682	D	0.000000	D	0.82912	0.5140	N	0.25890	0.77	0.80722	D	1	B;B	0.22346	0.068;0.005	B;B	0.22386	0.039;0.01	T	0.77117	-0.2706	10	0.19590	T	0.45	-3.8148	9.8058	0.40792	0.9227:0.0:0.0773:0.0	.	481;529	Q8NE01-2;Q8NE01	.;CNNM3_HUMAN	G	481;481;529	ENSP00000366260:S481G;ENSP00000305449:S529G	ENSP00000305449:S529G	S	+	1	0	CNNM3	96857260	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	5.403000	0.66338	2.271000	0.75665	0.533000	0.62120	AGT	CNNM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252952.2		+	ENST00000305510.3	Missense_Mutation	SNP	2 : 97493533 - 97493533 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	468	63
BAG5	9529	broad.mit.edu	37	14	104026472	104026472	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:104026472T>C	ENST00000445922.2	-	2	1276	c.1030A>G	c.(1030-1032)Aca>Gca	p.T344A	BAG5_ENST00000337322.4_Missense_Mutation_p.T385A|RP11-894P9.2_ENST00000556332.1_RNA|BAG5_ENST00000299204.4_Missense_Mutation_p.T344A	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	344	BAG 4.				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			TCAATATATGTGATCAGAGTT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(171;1832 2055 18950 31566 41632)							NA				0													90	96	94			NA	NA	14		NA											NA				104026472		2203	4300	6503	SO:0001583	missense			AF095195	CCDS9982.1, CCDS41995.1	14q32	2008-08-01				ENSG00000166170	9529	9529			941	protein-coding gene	gene with protein product		603885			NA	9873016, 15603737	Standard		NM_001015048	NA	Approved		uc001ynh.2	Q9UL15		ENST00000445922.2:c.1030A>G	14.37:g.104026472T>C	ENSP00000391713:p.Thr344Ala	NA	O94950|Q86W59	37	CCDS9982.1	.	.	.	.	.	.	.	.	.	.	T	15.54	2.865222	0.51482	.	.	ENSG00000166170	ENST00000299204;ENST00000445922;ENST00000337322	D;D;D	0.87491	-2.26;-2.26;-2.26	5.76	5.76	0.90799	BAG domain (3);	0.000000	0.85682	D	0.000000	D	0.90174	0.6929	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.91468	0.5194	10	0.87932	D	0	-26.7047	16.0833	0.81020	0.0:0.0:0.0:1.0	.	344;385	Q9UL15;Q9UL15-2	BAG5_HUMAN;.	A	344;344;385	ENSP00000299204:T344A;ENSP00000391713:T344A;ENSP00000338814:T385A	ENSP00000299204:T344A	T	-	1	0	BAG5	103096225	1.000000	0.71417	0.708000	0.30435	0.026000	0.11368	7.210000	0.77924	2.202000	0.70862	0.533000	0.62120	ACA	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414990.1		-	ENST00000445922.2	Missense_Mutation	SNP	14 : 104026472 - 104026472 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	682	145
WNK2	65268	broad.mit.edu	37	9	96061420	96061420	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96061420G>A	ENST00000297954.4	+	25	6103	c.6103G>A	c.(6103-6105)Gca>Aca	p.A2035T	WNK2_ENST00000356055.3_Silent_p.L358L|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.A1610T|WNK2_ENST00000349097.3_Missense_Mutation_p.A1647T|WNK2_ENST00000395477.2_Missense_Mutation_p.A1998T	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2035					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GGGGCTCACTGCAGACAGCAC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	29	29			NA	NA	9		NA											NA				96061420		2199	4293	6492	SO:0001583	missense			AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238	65268	65268			14542	protein-coding gene	gene with protein product		606249	serologically defined colon cancer antigen 43	SDCCAG43, PRKWNK2	NA	9610721, 11571656	Standard	NM_006648	NM_006648	NA	Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.6103G>A	9.37:g.96061420G>A	ENSP00000297954:p.Ala2035Thr	NA	Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	37		.	.	.	.	.	.	.	.	.	.	G	12.05	1.821450	0.32237	.	.	ENSG00000165238	ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277	T;T;T;T	0.71579	-0.58;-0.57;0.04;0.04	4.1	4.1	0.47936	.	0.360403	0.29515	N	0.011924	T	0.79299	0.4422	L	0.53249	1.67	0.26252	N	0.978704	D;D;D;D	0.63880	0.991;0.993;0.988;0.993	P;D;D;D	0.77557	0.641;0.977;0.99;0.956	T	0.70684	-0.4804	10	0.54805	T	0.06	.	12.3721	0.55260	0.0:0.0:0.7483:0.2517	.	1998;1993;1998;2035	Q9Y3S1-2;A6PVR3;F8W9F9;Q9Y3S1	.;.;.;WNK2_HUMAN	T	2035;1998;1647;1610	ENSP00000297954:A2035T;ENSP00000378860:A1998T;ENSP00000297876:A1647T;ENSP00000411181:A1610T	ENSP00000297954:A2035T	A	+	1	0	WNK2	95101241	0.082000	0.21442	0.263000	0.24496	0.584000	0.36387	1.764000	0.38471	1.841000	0.53522	0.655000	0.94253	GCA	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000317359.1		+	ENST00000297954.4	Missense_Mutation	SNP	9 : 96061420 - 96061420 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	197	23
ZNF554	115196	broad.mit.edu	37	19	2834613	2834613	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2834613C>T	ENST00000317243.5	+	5	1578	c.1380C>T	c.(1378-1380)ggC>ggT	p.G460G		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCACACGGGCGAGAACCCCT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	71	67			NA	NA	19		NA											NA				2834613		2202	4299	6501	SO:0001819	synonymous_variant			AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006	115196	115196		Zinc fingers, C2H2-type, -	26629	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152303	NM_001102651	NA	Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.1380C>T	19.37:g.2834613C>T		NA	Q8NAT3|Q9BWN3	37	CCDS42462.1																																																																																			ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451598.3		+	ENST00000317243.5	Silent	SNP	19 : 2834613 - 2834613 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	298	56
HR	55806	broad.mit.edu	37	8	21986527	21986527	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21986527C>T	ENST00000381418.4	-	2	1637	c.157G>A	c.(157-159)Gtc>Atc	p.V53I	HR_ENST00000312841.8_Missense_Mutation_p.V53I	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	53							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GTGCTCAGGACGCCCCTCCAA	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	40	43	42		157,157	-1.8	0.4	8		42	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	HR	NM_018411.4,NM_005144.4	29,29	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign,benign	53/1135,53/1190	21986527	1,13005	2203	4300	6503	SO:0001583	missense			AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453	55806	55806			5172	protein-coding gene	gene with protein product		602302	hairless (mouse) homolog, hairless homolog (mouse)	ALUNC	NA	10051399, 9463324	Standard		NM_018411	NA	Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.157G>A	8.37:g.21986527C>T	ENSP00000370826:p.Val53Ile	NA	Q6GS30|Q96H33|Q9NPE1	37	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	C	2.361	-0.346539	0.05208	0.0	1.16E-4	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.71934	-0.61;-0.61	4.8	-1.78	0.07957	.	1.199030	0.06230	N	0.688518	T	0.52869	0.1761	L	0.27053	0.805	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.06405	0.002;0.002;0.001	T	0.25606	-1.0127	10	0.26408	T	0.33	-1.6763	5.5637	0.17158	0.1308:0.4348:0.0:0.4344	.	53;53;53	A6NCE3;O43593-2;O43593	.;.;HAIR_HUMAN	I	53	ENSP00000370826:V53I;ENSP00000326765:V53I	ENSP00000326765:V53I	V	-	1	0	HR	22042472	0.001000	0.12720	0.378000	0.26068	0.138000	0.21146	-0.610000	0.05629	-0.500000	0.06614	-2.069000	0.00389	GTC	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214213.1		-	ENST00000381418.4	Missense_Mutation	SNP	8 : 21986527 - 21986527 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	370	67
RNF213	57674	broad.mit.edu	37	17	78335544	78335544	+	Missense_Mutation	SNP	G	G	T	rs146910347		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78335544G>T	ENST00000508628.2	+	40	11503	c.11358G>T	c.(11356-11358)aaG>aaT	p.K3786N	RNF213_ENST00000336301.6_Missense_Mutation_p.K1810N|RNF213_ENST00000582970.1_Missense_Mutation_p.K3737N|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA			Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GACTGCCCAAGAAGTTCGTGG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	59	60			NA	NA	17		NA											NA				78335544		2203	4300	6503	SO:0001583	missense			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821	57674	57674		RING-type (C3HC4) zinc fingers	14539	protein-coding gene	gene with protein product		613768	chromosome 17 open reading frame 27, KIAA1618, moyamoya disease 2, Moyamoya disease 2	C17orf27, KIAA1618, MYMY2	NA	10997877, 21048783, 21799892	Standard	NM_020914	NM_020954	NA	Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000508628.2:c.11358G>T	17.37:g.78335544G>T	ENSP00000425956:p.Lys3786Asn	NA	Q69YK7|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406	37		.	.	.	.	.	.	.	.	.	.	G	10.21	1.288165	0.23478	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.23552	1.9	5.68	-0.755	0.11061	.	1.121610	0.06565	N	0.747374	T	0.20536	0.0494	L	0.54323	1.7	0.20196	N	0.999921	B;P	0.35656	0.418;0.514	B;B	0.29716	0.083;0.106	T	0.26360	-1.0105	10	0.45353	T	0.12	.	4.8917	0.13730	0.2001:0.1043:0.5889:0.1067	.	3786;1810	C9JCP4;Q63HN8	.;RN213_HUMAN	N	3737;3786;1810	ENSP00000338218:K1810N	ENSP00000338218:K1810N	K	+	3	2	RNF213	75950139	0.950000	0.32346	0.020000	0.16555	0.005000	0.04900	1.469000	0.35343	0.026000	0.15269	-0.140000	0.14226	AAG	RNF213-001	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000364861.3		+	ENST00000508628.2	Missense_Mutation	SNP	17 : 78335544 - 78335544 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	394	63
POLA1	5422	broad.mit.edu	37	X	24732735	24732735	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:24732735G>A	ENST00000379068.3	+	5	454	c.411G>A	c.(409-411)ccG>ccA	p.P137P	POLA1_ENST00000379059.3_Silent_p.P131P			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	131					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	TGACAAAACCGAACAACATTA	0.353		NA											G	2	0.0012	0.01	NA	1659	NA	0.9996	,	,	NA	2e-04	NA	NA	NA	0.001	0.6902	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0								G		2,3832		0,1,1,1631,569	102	92	95		393	-3.2	0.9	X		95	0,6726		0,0,0,2428,1870	no	coding-synonymous	POLA1	NM_016937.3		0,1,1,4059,2439	AA,AG,A,GG,G	NA	0.0,0.0522,0.0189		131/1463	24732735	2,10558	2202	4298	6500	SO:0001819	synonymous_variant				CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	5422	5422	2.7.7.7	DNA polymerases	9173	protein-coding gene	gene with protein product		312040	polymerase (DNA directed), alpha, polymerase (DNA directed), alpha 1, N syndrome (mental retardation, malformations, chromosome breakage)	POLA, NSX	NA	1689958	Standard	NM_016937	NM_016937	NA	Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379068.3:c.411G>A	X.37:g.24732735G>A		NA	Q86UQ7	37																																																																																				POLA1-005	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000056112.1		+	ENST00000379068.3	Silent	SNP	X : 24732735 - 24732735 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	52	21
CPN2	1370	broad.mit.edu	37	3	194061981	194061981	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:194061981C>A	ENST00000323830.3	-	2	1540	c.1451G>T	c.(1450-1452)aGc>aTc	p.S484I	CPN2_ENST00000429275.1_Missense_Mutation_p.S484I	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	484					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CTCGGGGTTGCTGTAGGTGCA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	49	48			NA	NA	3		NA											NA				194061981		2203	4300	6503	SO:0001583	missense			J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	1370	1370	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	carboxypeptidase N, polypeptide 2, 83kD	ACBP	NA	2378615, 9628828	Standard	NM_001080513	XM_005269280	NA	Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.1451G>T	3.37:g.194061981C>A	ENSP00000319464:p.Ser484Ile	NA	B2RPE7|Q86SU4|Q8N5V4	37	CCDS33920.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316294	0.60524	.	.	ENSG00000178772	ENST00000323830;ENST00000429275	T;T	0.56941	0.43;0.43	5.41	5.41	0.78517	.	0.171304	0.28247	N	0.016057	T	0.41213	0.1149	L	0.27053	0.805	0.30440	N	0.77626	P	0.49961	0.93	P	0.44732	0.459	T	0.50634	-0.8805	10	0.62326	D	0.03	.	8.2362	0.31627	0.0:0.758:0.1589:0.0831	.	484	P22792	CPN2_HUMAN	I	484	ENSP00000319464:S484I;ENSP00000402232:S484I	ENSP00000319464:S484I	S	-	2	0	CPN2	195543676	0.975000	0.34042	1.000000	0.80357	0.994000	0.84299	0.647000	0.24812	2.702000	0.92279	0.655000	0.94253	AGC	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342856.2		-	ENST00000323830.3	Missense_Mutation	SNP	3 : 194061981 - 194061981 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	297	71
TTN	7273	broad.mit.edu	37	2	179569378	179569378	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179569378G>T	ENST00000589042.1	-	105	30045	c.29821C>A	c.(29821-29823)Ctg>Atg	p.L9941M	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L8697M|TTN_ENST00000591111.1_Missense_Mutation_p.L9624M|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9624	Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGGTTCCAGTTTTTCAGTT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	68	71			NA	NA	2		NA											NA				179569378		1831	4086	5917	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.29821C>A	2.37:g.179569378G>T	ENSP00000467141:p.Leu9941Met	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.497968	0.26861	.	.	ENSG00000155657	ENST00000342992	T	0.72282	-0.64	5.93	3.92	0.45320	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82282	0.5003	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83671	0.0166	9	0.87932	D	0	.	9.1462	0.36935	0.2633:0.0:0.7367:0.0	.	9624	Q8WZ42	TITIN_HUMAN	M	8697	ENSP00000343764:L8697M	ENSP00000343764:L8697M	L	-	1	2	TTN	179277623	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	3.691000	0.54720	1.529000	0.49120	0.655000	0.94253	CTG	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179569378 - 179569378 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	118	9
ARRB2	409	broad.mit.edu	37	17	4619793	4619793	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4619793G>A	ENST00000269260.2	+	5	480	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	ARRB2_ENST00000381488.6_Missense_Mutation_p.A68T|ARRB2_ENST00000412477.3_Missense_Mutation_p.A83T|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000346341.2_Missense_Mutation_p.A68T|ARRB2_ENST00000575877.1_Missense_Mutation_p.A83T	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	83					cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CCTGTTCATCGCCACCTACCA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	85	96			NA	NA	17		NA											NA				4619793		2203	4300	6503	SO:0001583	missense				CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480	409	409			712	protein-coding gene	gene with protein product	arrestin 3	107941		ARR2	NA	7695743	Standard	NM_004313	NM_001257329	NA	Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.247G>A	17.37:g.4619793G>A	ENSP00000269260:p.Ala83Thr	NA	B5B0C0|B7WPL3|D3DTK2|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	37	CCDS11050.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659378	0.47467	.	.	ENSG00000141480	ENST00000381488;ENST00000269260;ENST00000346341;ENST00000412477	T;T	0.29397	1.57;1.57	4.55	4.55	0.56014	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.188432	0.46145	D	0.000315	T	0.22704	0.0548	L	0.43646	1.37	0.80722	D	1	B;B;B;B;B	0.33528	0.254;0.158;0.303;0.416;0.084	B;B;B;B;B	0.25405	0.06;0.008;0.019;0.033;0.013	T	0.04961	-1.0915	10	0.45353	T	0.12	-15.3958	9.9618	0.41701	0.0:0.0:0.7977:0.2023	.	83;68;83;68;83	B4DLW0;P32121-2;P32121-3;G5E980;P32121	.;.;.;.;ARRB2_HUMAN	T	83;83;68;84	ENSP00000269260:A83T;ENSP00000341895:A68T	ENSP00000269260:A83T	A	+	1	0	ARRB2	4566542	0.969000	0.33509	1.000000	0.80357	0.998000	0.95712	1.536000	0.36072	2.371000	0.80710	0.563000	0.77884	GCC	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000439552.1		+	ENST00000269260.2	Missense_Mutation	SNP	17 : 4619793 - 4619793 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	411	85
RAD23B	5887	broad.mit.edu	37	9	110084292	110084292	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:110084292C>T	ENST00000358015.3	+	7	1061	c.710C>T	c.(709-711)gCt>gTt	p.A237V	RAD23B_ENST00000416373.2_Missense_Mutation_p.A165V	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	237					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GAAAGTCAGGCTGTGGTTGAC	0.433		NA						Direct reversal of damage;Nucleotide excision repair (NER)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	42	42			NA	NA	9		NA											NA				110084292		2203	4300	6503	SO:0001583	missense				CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318	5887	5887			9813	protein-coding gene	gene with protein product	XP-C repair complementing protein, XP-C repair complementing complex 58 kDa	600062	RAD23 (S. cerevisiae) homolog B		NA	7851894, 8168482	Standard	NM_002874	NM_002874	NA	Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.710C>T	9.37:g.110084292C>T	ENSP00000350708:p.Ala237Val	NA	B3KWK8|Q8WUB0	37	CCDS6769.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671429	0.29693	.	.	ENSG00000119318	ENST00000358015;ENST00000416373	T;T	0.19669	2.14;2.13	5.28	5.28	0.74379	.	0.149642	0.64402	D	0.000013	T	0.14874	0.0359	N	0.24115	0.695	0.49130	D	0.999759	B;B;B	0.29571	0.247;0.249;0.093	B;B;B	0.30572	0.117;0.082;0.05	T	0.07539	-1.0767	10	0.10902	T	0.67	-6.0997	15.6292	0.76888	0.0:0.8624:0.1376:0.0	.	216;237;237	B7Z4W4;B4DEA3;P54727	.;.;RD23B_HUMAN	V	237;165	ENSP00000350708:A237V;ENSP00000405623:A165V	ENSP00000350708:A237V	A	+	2	0	RAD23B	109124113	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.643000	0.54374	2.626000	0.88956	0.555000	0.69702	GCT	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053548.1		+	ENST00000358015.3	Missense_Mutation	SNP	9 : 110084292 - 110084292 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	182	35
PRG4	10216	broad.mit.edu	37	1	186277618	186277618	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186277618G>A	ENST00000445192.2	+	7	2812	c.2767G>A	c.(2767-2769)Gac>Aac	p.D923N	PRG4_ENST00000367485.4_Missense_Mutation_p.D830N|PRG4_ENST00000367483.4_Missense_Mutation_p.D882N|PRG4_ENST00000367486.3_Missense_Mutation_p.D880N|PRG4_ENST00000367484.3_Missense_Mutation_p.D452N	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	923					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						AACAGAAAGAGACTTACGTAC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													213	218	217			NA	NA	1		NA											NA				186277618		2203	4300	6503	SO:0001583	missense			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690	10216	10216			9364	protein-coding gene	gene with protein product	lubricin, megakaryocyte stimulating factor, articular superficial zone protein, Jacobs camptodactyly-arthropathy-pericarditis syndrome, camptodactyly, arthropathy, coxa vara, pericarditis syndrome, bG174L6.2 (MSF: megakaryocyte stimulating factor )	604283	proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)	CACP	NA	10545950, 9920774	Standard	NM_005807	NM_005807	NA	Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2767G>A	1.37:g.186277618G>A	ENSP00000399679:p.Asp923Asn	NA	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	37	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	G	9.240	1.038064	0.19669	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.05319	3.46;3.52;3.58;3.47;3.58	3.13	0.853	0.19001	.	0.804728	0.10377	U	0.681971	T	0.06690	0.0171	L	0.29908	0.895	0.09310	N	1	P;P;P;P	0.44659	0.84;0.84;0.753;0.84	P;P;B;P	0.50314	0.637;0.637;0.433;0.637	T	0.34700	-0.9818	10	0.15499	T	0.54	.	3.6248	0.08109	0.2757:0.0:0.536:0.1882	.	789;830;923;882	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	N	880;452;789;882;830;923	ENSP00000356456:D880N;ENSP00000356454:D452N;ENSP00000356453:D882N;ENSP00000356455:D830N;ENSP00000399679:D923N	ENSP00000356452:D789N	D	+	1	0	PRG4	184544241	0.000000	0.05858	0.654000	0.29608	0.191000	0.23601	-0.096000	0.11059	0.311000	0.23014	0.423000	0.28283	GAC	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086346.1		+	ENST00000445192.2	Missense_Mutation	SNP	1 : 186277618 - 186277618 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	795	201
PFAS	5198	broad.mit.edu	37	17	8171913	8171913	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8171913C>T	ENST00000314666.6	+	27	3578	c.3445C>T	c.(3445-3447)Cgg>Tgg	p.R1149W	PFAS_ENST00000545834.1_Missense_Mutation_p.R725W	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1149	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTTCCGGAAGCGGCCAGACAC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	37	36			NA	NA	17		NA											NA				8171913		2203	4300	6503	SO:0001583	missense			AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	5198	5198	6.3.5.3		8863	protein-coding gene	gene with protein product	FGAR amidotransferase	602133			NA	8110788	Standard		NM_012393	NA	Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.3445C>T	17.37:g.8171913C>T	ENSP00000313490:p.Arg1149Trp	NA	A6H8V8	37	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881660	0.72294	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.38401	1.14;1.87	5.11	5.11	0.69529	Glutamine amidotransferase type 1 (1);	0.000000	0.64402	D	0.000001	T	0.73094	0.3543	H	0.98333	4.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82178	-0.0586	10	0.87932	D	0	-24.7076	11.4877	0.50363	0.1795:0.8205:0.0:0.0	.	1149;1149	A8K8N7;O15067	.;PUR4_HUMAN	W	725;1149;558	ENSP00000441706:R725W;ENSP00000313490:R1149W	ENSP00000313490:R1149W	R	+	1	2	PFAS	8112638	0.997000	0.39634	1.000000	0.80357	0.791000	0.44710	3.607000	0.54102	2.537000	0.85549	0.563000	0.77884	CGG	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226994.2		+	ENST00000314666.6	Missense_Mutation	SNP	17 : 8171913 - 8171913 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	259	13
GPR12	2835	broad.mit.edu	37	13	27333552	27333552	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27333552C>T	ENST00000381436.2	-	1	875	c.413G>A	c.(412-414)cGc>cAc	p.R138H	GPR12_ENST00000405846.3_Missense_Mutation_p.R138H			P47775	GPR12_HUMAN	G protein-coupled receptor 12	138						integral to plasma membrane				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		TGAGAGGTAGCGGTCAACAGT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	91	96			NA	NA	13		NA											NA				27333552		2203	4300	6503	SO:0001583	missense			U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975	NA	2835		GPCR / Class A : Orphans	4466	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 84	600752			NA	8262253, 8530049	Standard		NM_005288	NA	Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.413G>A	13.37:g.27333552C>T	ENSP00000370844:p.Arg138His	NA	Q5T8P3	37	CCDS9319.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.992314	0.93167	.	.	ENSG00000132975	ENST00000405846;ENST00000381436	D;D	0.97161	-4.27;-4.27	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99130	0.9700	H	0.97732	4.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99094	1.0841	10	0.87932	D	0	.	19.0843	0.93196	0.0:1.0:0.0:0.0	.	138	P47775	GPR12_HUMAN	H	138	ENSP00000384932:R138H;ENSP00000370844:R138H	ENSP00000370844:R138H	R	-	2	0	GPR12	26231552	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.685000	0.84117	2.532000	0.85374	0.561000	0.74099	CGC	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044257.2		-	ENST00000381436.2	Missense_Mutation	SNP	13 : 27333552 - 27333552 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	377	72
CLCN6	1185	broad.mit.edu	37	1	11896113	11896113	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11896113C>T	ENST00000346436.6	+	18	1935	c.1883C>T	c.(1882-1884)aCg>aTg	p.T628M	CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376487.3_Missense_Mutation_p.T606M|CLCN6_ENST00000376496.3_Missense_Mutation_p.T628M	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	628	CBS 1.				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCGCACCACGGTCCACCAT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	106	119			NA	NA	1		NA											NA				11896113		2203	4300	6503	SO:0001583	missense			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021	1185	1185		Ion channels / Chloride channels : Voltage-sensitive	2024	protein-coding gene	gene with protein product		602726	chloride channel 6		NA	8543009	Standard	NM_001286	NM_001286	NA	Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.1883C>T	1.37:g.11896113C>T	ENSP00000234488:p.Thr628Met	NA	A8K1T4|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	37	CCDS138.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872035	0.91587	.	.	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	D;D;D	0.89196	-2.48;-2.48;-2.48	5.71	5.71	0.89125	Cystathionine beta-synthase, core (3);	0.046638	0.85682	D	0.000000	D	0.91626	0.7354	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	D	0.92515	0.6020	10	0.87932	D	0	-21.6503	18.8314	0.92141	0.0:1.0:0.0:0.0	.	606;628	F8W9R3;P51797	.;CLCN6_HUMAN	M	628;606;628	ENSP00000234488:T628M;ENSP00000365670:T606M;ENSP00000365679:T628M	ENSP00000234488:T628M	T	+	2	0	CLCN6	11818700	1.000000	0.71417	0.974000	0.42286	0.943000	0.58893	7.487000	0.81328	2.700000	0.92200	0.462000	0.41574	ACG	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006639.2		+	ENST00000346436.6	Missense_Mutation	SNP	1 : 11896113 - 11896113 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	129	7
RGL2	5863	broad.mit.edu	37	6	33259941	33259941	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33259941C>A	ENST00000497454.1	-	18	2767	c.2272G>T	c.(2272-2274)Gga>Tga	p.G758*	PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_5'UTR	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	758					Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GAGCCCCCTCCTCCCTCACTC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	62	63			NA	NA	6		NA											NA				33259941		2203	4300	6503	SO:0001587	stop_gained				CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441	5863	5863			9769	protein-coding gene	gene with protein product		602306	RAB2, member RAS oncogene family-like	RAB2L	NA	8976381	Standard		NM_001243738	NA	Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.2272G>T	6.37:g.33259941C>A	ENSP00000420211:p.Gly758*	NA	Q5STK0|Q9Y3F3	37	CCDS4774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.777970|9.777970	0.99261|0.99261	.|.	.|.	ENSG00000237441|ENSG00000237441	ENST00000421215|ENST00000497454	.|.	.|.	.|.	5.64|5.64	3.85|3.85	0.44370|0.44370	.|.	.|0.307620	.|0.31020	.|N	.|0.008409	T|.	0.33147|.	0.0853|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.12785|.	-1.0534|.	5|.	0.52906|0.18276	T|T	0.07|0.48	.|.	8.0045|8.0045	0.30317|0.30317	0.0:0.7551:0.1598:0.0851|0.0:0.7551:0.1598:0.0851	.|.	.|.	.|.	.|.	D|X	620|758	.|.	ENSP00000400083:E620D|ENSP00000420211:G758X	E|G	-|-	3|1	2|0	RGL2|RGL2	33367919|33367919	0.997000|0.997000	0.39634|0.39634	0.998000|0.998000	0.56505|0.56505	0.987000|0.987000	0.75469|0.75469	0.970000|0.970000	0.29383|0.29383	0.730000|0.730000	0.32425|0.32425	0.643000|0.643000	0.83706|0.83706	GAG|GGA	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076098.2		-	ENST00000497454.1	Nonsense_Mutation	SNP	6 : 33259941 - 33259941 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	13
TRPM4	54795	broad.mit.edu	37	19	49713653	49713653	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49713653G>A	ENST00000252826.5	+	21	3445	c.3319G>A	c.(3319-3321)Gag>Aag	p.E1107K	TRPM4_ENST00000427978.2_Missense_Mutation_p.E962K|TRPM4_ENST00000355712.5_Missense_Mutation_p.E753K	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1107	Calmodulin-binding.				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCCGGCCCTCGAGCATTTCCG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	22	21			NA	NA	19		NA											NA				49713653		2200	4294	6494	SO:0001583	missense			AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529	54795	54795		Voltage-gated ion channels / Transient receptor potential cation channels	17993	protein-coding gene	gene with protein product		606936			NA	11535825, 16382100	Standard	NM_017636	NM_017636	NA	Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.3319G>A	19.37:g.49713653G>A	ENSP00000252826:p.Glu1107Lys	NA	A2RU25|Q7Z5D9|Q96L84|Q9NXV1	37	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.970452	0.34754	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.50548	0.74;0.74;0.74	4.51	-2.58	0.06228	.	13.009600	0.00166	N	0.000000	T	0.21674	0.0522	N	0.04373	-0.215	0.09310	N	1	B;B;B;B	0.18610	0.029;0.013;0.013;0.005	B;B;B;B	0.08055	0.002;0.003;0.003;0.001	T	0.18241	-1.0343	10	0.08837	T	0.75	-9.0442	5.8779	0.18838	0.2718:0.4661:0.2621:0.0	.	753;933;962;1107	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	K	1107;962;753	ENSP00000252826:E1107K;ENSP00000407492:E962K;ENSP00000347944:E753K	ENSP00000252826:E1107K	E	+	1	0	TRPM4	54405465	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	-0.756000	0.04777	-0.065000	0.13021	0.313000	0.20887	GAG	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465543.2		+	ENST00000252826.5	Missense_Mutation	SNP	19 : 49713653 - 49713653 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	360	70
FILIP1L	11259	broad.mit.edu	37	3	99567134	99567134	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:99567134C>A	ENST00000331335.5	-	5	3856	c.3386G>T	c.(3385-3387)aGt>aTt	p.S1129I	CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000487087.1_Intron|FILIP1L_ENST00000471562.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.S889I|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000354552.3_Intron	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	0						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						ATATATATTACTTACTGTAAT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													281	271	274			NA	NA	3		NA											NA				99567134		1966	4145	6111	SO:0001583	missense				CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386	11259	11259			24589	protein-coding gene	gene with protein product	downregulated in ovarian cancer 1, GPBP-interacting protein of 130 kDa	612993			NA	8314147, 15935955, 21832087	Standard	NM_014890	NM_001282793	NA	Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000331335.5:c.3386G>T	3.37:g.99567134C>A	ENSP00000327880:p.Ser1129Ile	NA	B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	37	CCDS43118.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354763	0.41700	.	.	ENSG00000168386	ENST00000331335;ENST00000383694;ENST00000441620	T;T	0.24151	2.19;1.87	5.79	5.79	0.91817	.	.	.	.	.	T	0.34395	0.0896	N	0.08118	0	0.50813	D	0.999893	D	0.89917	1.0	D	0.74674	0.984	T	0.46345	-0.9198	9	0.87932	D	0	.	20.0313	0.97540	0.0:1.0:0.0:0.0	.	1129	Q4L180-2	.	I	1129;889;875	ENSP00000327880:S1129I;ENSP00000373192:S889I	ENSP00000327880:S1129I	S	-	2	0	FILIP1L	101049824	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.484000	0.81180	2.746000	0.94184	0.655000	0.94253	AGT	FILIP1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353070.1		-	ENST00000331335.5	Missense_Mutation	SNP	3 : 99567134 - 99567134 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	712	140
TSLP	85480	broad.mit.edu	37	5	110409278	110409278	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:110409278G>A	ENST00000420978.2	+	4	1708	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	TSLP_ENST00000379706.4_5'UTR|TSLP_ENST00000344895.3_Missense_Mutation_p.E96K			Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	96						extracellular space	cytokine activity	p.E96*(1)		breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		GCTCGCCAAAGAAATGTTCGC	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)	large_intestine(1)											143	150	147			NA	NA	5		NA											NA				110409278		2202	4300	6502	SO:0001583	missense			BC040592	CCDS4101.1	5q22.1	2007-08-24			ENSG00000145777	ENSG00000145777	85480	85480			30743	protein-coding gene	gene with protein product		607003			NA	11418668, 11480573	Standard	NM_033035	NM_033035	NA	Approved		uc003kpb.2	Q969D9	OTTHUMG00000128791	ENST00000420978.2:c.286G>A	5.37:g.110409278G>A	ENSP00000399099:p.Glu96Lys	NA	Q8IW99	37		.	.	.	.	.	.	.	.	.	.	G	14.85	2.658779	0.47467	.	.	ENSG00000145777	ENST00000420978;ENST00000344895	.	.	.	4.93	0.0754	0.14399	.	1.399250	0.04838	N	0.440053	T	0.17704	0.0425	N	0.08118	0	0.09310	N	0.999999	B	0.27229	0.172	B	0.29598	0.104	T	0.19778	-1.0295	9	0.15952	T	0.53	-3.4937	3.7658	0.08622	0.3711:0.0:0.4641:0.1647	.	96	Q969D9	TSLP_HUMAN	K	96	.	ENSP00000339804:E96K	E	+	1	0	TSLP	110437177	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.322000	0.19576	-0.099000	0.12263	0.655000	0.94253	GAA	TSLP-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000250718.2		+	ENST00000420978.2	Missense_Mutation	SNP	5 : 110409278 - 110409278 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1097	198
CD4	920	broad.mit.edu	37	12	6927707	6927707	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6927707G>T	ENST00000011653.4	+	8	1535	c.1277G>T	c.(1276-1278)aGg>aTg	p.R426M		NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	426					cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				CGGCACCGAAGGGTGAGTAAC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	57	58			NA	NA	12		NA											NA				6927707		2203	4300	6503	SO:0001630	splice_region_variant			M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610	920	920		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing	1678	protein-coding gene	gene with protein product		186940	CD4 antigen (p55), T-cell surface glycoprotein CD4		NA		Standard	NM_000616	NM_000616	NA	Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.1278+1G>T	12.37:g.6927707G>T		NA	B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	37	CCDS8562.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.606016	0.46527	.	.	ENSG00000010610	ENST00000011653	T	0.29655	1.56	4.23	2.16	0.27623	T cell CD4 receptor C-terminal region (1);	0.338377	0.29073	N	0.013235	T	0.47673	0.1458	M	0.77820	2.39	0.58432	D	0.999991	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.975	T	0.43130	-0.9410	10	0.49607	T	0.09	-17.5898	3.7669	0.08626	0.1334:0.0:0.6051:0.2615	.	247;426	B0AZV7;P01730	.;CD4_HUMAN	M	426	ENSP00000011653:R426M	ENSP00000011653:R426M	R	+	2	0	CD4	6797968	0.291000	0.24352	0.793000	0.32043	0.522000	0.34438	0.157000	0.16402	0.944000	0.37579	0.561000	0.74099	AGG	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399978.1	Missense_Mutation	+	ENST00000011653.4	Splice_Site	SNP	12 : 6927707 - 6927707 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	257	48
ATP6AP1L	92270	broad.mit.edu	37	5	81608455	81608455	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:81608455T>C	ENST00000380167.4	+	9	1482	c.157T>C	c.(157-159)Ttg>Ctg	p.L53L	ATP6AP1L_ENST00000508366.1_3'UTR|ATP6AP1L_ENST00000439350.1_Silent_p.L53L			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	53					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						TTACAACAAGTTGTCCATCCA	0.418		NA									OREG0016689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	172	173			NA	NA	5		NA											NA				81608455		2203	4300	6503	SO:0001819	synonymous_variant			AK022625	CCDS34196.1	5q14.2	2010-03-10				ENSG00000205464	92270	92270			28091	protein-coding gene	gene with protein product					NA		Standard	NM_001017971	XR_112744	NA	Approved		uc003khw.3	Q52LC2		ENST00000380167.4:c.157T>C	5.37:g.81608455T>C		1207		37	CCDS34196.1																																																																																			ATP6AP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369562.3		+	ENST00000380167.4	Silent	SNP	5 : 81608455 - 81608455 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	846	165
FASLG	356	broad.mit.edu	37	1	172634947	172634947	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:172634947A>G	ENST00000367721.2	+	4	821	c.637A>G	c.(637-639)Atg>Gtg	p.M213V	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	213					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						CAAGGTCTACATGAGGAACTC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(28;486 876 30334 44033)							NA				0													113	108	109			NA	NA	1		NA											NA				172634947		2203	4300	6503	SO:0001583	missense			U11821	CCDS1304.1	1q23	2014-09-17	2005-01-07	2005-01-07	ENSG00000117560	ENSG00000117560	356	356		Tumor necrosis factor (ligand) superfamily, CD molecules, Endogenous ligands	11936	protein-coding gene	gene with protein product		134638	tumor necrosis factor (ligand) superfamily, member 6	APT1LG1, TNFSF6	NA	7826947, 9022072	Standard		NM_000639	NA	Approved	FasL, CD178	uc001gis.3	P48023	OTTHUMG00000034841	ENST00000367721.2:c.637A>G	1.37:g.172634947A>G	ENSP00000356694:p.Met213Val	NA	Q9BZP9	37	CCDS1304.1	.	.	.	.	.	.	.	.	.	.	A	4.303	0.055528	0.08291	.	.	ENSG00000117560	ENST00000367721	D	0.94330	-3.4	5.02	2.64	0.31445	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.431289	0.26715	N	0.022880	T	0.71745	0.3376	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.63752	-0.6566	10	0.35671	T	0.21	-5.2216	6.2711	0.20955	0.7791:0.0:0.0793:0.1416	.	213	P48023	TNFL6_HUMAN	V	213	ENSP00000356694:M213V	ENSP00000356694:M213V	M	+	1	0	FASLG	170901570	0.998000	0.40836	0.992000	0.48379	0.943000	0.58893	1.143000	0.31553	0.333000	0.23563	-0.263000	0.10527	ATG	FASLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084276.1		+	ENST00000367721.2	Missense_Mutation	SNP	1 : 172634947 - 172634947 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	642	103
KRT86	3892	broad.mit.edu	37	12	52702259	52702259	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52702259A>G	ENST00000423955.2	+	11	1529	c.1351A>G	c.(1351-1353)Acc>Gcc	p.T451A	KRT86_ENST00000544024.1_Missense_Mutation_p.T451A|KRT86_ENST00000293525.5_Missense_Mutation_p.T451A			O43790	KRT86_HUMAN	keratin 86	451	Tail.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTTGTCTCCACCAGAGTCAG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	27	26			NA	NA	12		NA											NA				52702259		2199	4295	6494	SO:0001583	missense			X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442	3892	3892		-, Intermediate filaments type II, keratins (basic)	6463	protein-coding gene	gene with protein product	hard keratin type II 6	601928	keratin, hair, basic, 6 (monilethrix)	KRTHB6	NA	9241275, 16831889	Standard	NM_002284	NM_002284	NA	Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.1351A>G	12.37:g.52702259A>G	ENSP00000444533:p.Thr451Ala	NA	P78387	37	CCDS41785.1	.	.	.	.	.	.	.	.	.	.	A	9.952	1.220419	0.22457	.	.	ENSG00000170442;ENSG00000170442;ENSG00000170442;ENSG00000258832	ENST00000544024;ENST00000423955;ENST00000293525;ENST00000553310	T;T;T	0.81247	-1.47;-1.47;-1.47	5.42	-0.186	0.13272	.	0.281067	0.25225	U	0.032219	T	0.64605	0.2613	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48080	-0.9066	10	0.22109	T	0.4	.	8.6059	0.33773	0.6135:0.0:0.3865:0.0	.	451	O43790	KRT86_HUMAN	A	451	ENSP00000443169:T451A;ENSP00000444533:T451A;ENSP00000293525:T451A	ENSP00000293525:T451A	T	+	1	0	AC021066.1;KRT86	50988526	0.000000	0.05858	0.308000	0.25141	0.577000	0.36160	-0.796000	0.04575	0.016000	0.14998	-0.379000	0.06801	ACC	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404911.1		+	ENST00000423955.2	Missense_Mutation	SNP	12 : 52702259 - 52702259 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	231	42
MDN1	23195	broad.mit.edu	37	6	90513085	90513085	+	Silent	SNP	C	C	T	rs143953044		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90513085C>T	ENST00000369393.3	-	2	406	c.291G>A	c.(289-291)tcG>tcA	p.S97S	MDN1_ENST00000428876.1_Silent_p.S97S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	97					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTTTGCTCATCGACACACATA	0.473		NA											C	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	EXOME	NA	NA	4e-04	SNP								NA				0								C		4,4402	8.1+/-20.4	0,4,2199	278	243	255		291	-9.6	0.8	6	dbSNP_134	255	0,8600		0,0,4300	no	coding-synonymous	MDN1	NM_014611.1		0,4,6499	TT,TC,CC	NA	0.0,0.0908,0.0308		97/5597	90513085	4,13002	2203	4300	6503	SO:0001819	synonymous_variant			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159	23195	23195			18302	protein-coding gene	gene with protein product					NA	9205841, 12102729	Standard		XM_005248699	NA	Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.291G>A	6.37:g.90513085C>T		NA	O15019|Q5T794	37	CCDS5024.1																																																																																			MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041514.2		-	ENST00000369393.3	Silent	SNP	6 : 90513085 - 90513085 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	744	131
ABHD16B	140701	broad.mit.edu	37	20	62493574	62493574	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62493574C>T	ENST00000369916.3	+	1	1009	c.681C>T	c.(679-681)gtC>gtT	p.V227V		NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	227							hydrolase activity			endometrium(2)|kidney(1)|lung(3)	6						ACGTGGTGGTCGAGTACGCAC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	35	37			NA	NA	20		NA											NA				62493574		2201	4299	6500	SO:0001819	synonymous_variant				CCDS13539.1	20q13.33	2013-01-17	2010-12-09	2010-12-09	ENSG00000183260	ENSG00000183260	140701	140701		Abhydrolase domain containing	16128	protein-coding gene	gene with protein product			chromosome 20 open reading frame 135	C20orf135	NA		Standard		NM_080622	NA	Approved	dJ591C20.1	uc002ygx.1	Q9H3Z7	OTTHUMG00000033010	ENST00000369916.3:c.681C>T	20.37:g.62493574C>T		NA		37	CCDS13539.1																																																																																			ABHD16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080254.1		+	ENST00000369916.3	Silent	SNP	20 : 62493574 - 62493574 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	196	27
PARP9	83666	broad.mit.edu	37	3	122274783	122274783	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122274783G>T	ENST00000462315.1	-	4	528	c.235C>A	c.(235-237)Ctg>Atg	p.L79M	PARP9_ENST00000492382.1_Intron|PARP9_ENST00000477522.2_Missense_Mutation_p.L79M|PARP9_ENST00000360356.2_Missense_Mutation_p.L114M|PARP9_ENST00000471785.1_Missense_Mutation_p.L79M	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	114					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CTAGGAGTCAGCATTTTTCTG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	83	87			NA	NA	3		NA											NA				122274783		2203	4300	6503	SO:0001583	missense			AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496	83666	83666		Poly (ADP-ribose) polymerases	24118	protein-coding gene	gene with protein product		612065			NA	11110709	Standard	NM_031458	NM_031458	NA	Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000462315.1:c.235C>A	3.37:g.122274783G>T	ENSP00000418894:p.Leu79Met	NA	A8KA94|B2R8S9|Q8TCP3|Q9BZL8|Q9BZL9	37	CCDS54633.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.522233	0.44866	.	.	ENSG00000138496	ENST00000360356;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315;ENST00000466126	T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9	5.4	4.45	0.53987	Appr-1-p processing (1);	0.000000	0.42420	D	0.000709	T	0.49064	0.1535	M	0.85630	2.765	0.48632	D	0.999689	D;D;D	0.89917	0.994;1.0;1.0	D;D;D	0.77004	0.957;0.988;0.989	T	0.49399	-0.8944	10	0.51188	T	0.08	.	6.7817	0.23650	0.15:0.0:0.85:0.0	.	79;114;79	E9PFM7;Q8IXQ6;Q8IXQ6-2	.;PARP9_HUMAN;.	M	114;79;79;37;79;92	ENSP00000353512:L114M;ENSP00000419506:L79M;ENSP00000419001:L79M;ENSP00000418894:L79M;ENSP00000419626:L92M	ENSP00000353512:L114M	L	-	1	2	PARP9	123757473	0.895000	0.30542	0.532000	0.27989	0.141000	0.21300	1.443000	0.35057	2.818000	0.97014	0.655000	0.94253	CTG	PARP9-003	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355959.1		-	ENST00000462315.1	Missense_Mutation	SNP	3 : 122274783 - 122274783 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	242	53
SNX18	112574	broad.mit.edu	37	5	53815541	53815541	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:53815541G>T	ENST00000326277.3	+	1	1949	c.1759G>T	c.(1759-1761)Gtc>Ttc	p.V587F	SNX18_ENST00000381410.4_Intron|SNX18_ENST00000343017.6_Missense_Mutation_p.V587F	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	587	BAR.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				GGACGCCTGGGTCTTTTCCCT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	75	75			NA	NA	5		NA											NA				53815541		2203	4300	6503	SO:0001583	missense			AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996	112574	112574		Sorting nexins	19245	protein-coding gene	gene with protein product			sorting nexin associated golgi protein 1	SNAG1	NA	16782399, 17761170	Standard		NM_052870	NA	Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.1759G>T	5.37:g.53815541G>T	ENSP00000317332:p.Val587Phe	NA	Q05BB3|Q0VG02	37	CCDS3962.1	.	.	.	.	.	.	.	.	.	.	G	8.579	0.881811	0.17467	.	.	ENSG00000178996	ENST00000343017;ENST00000326277	T;T	0.14391	2.51;2.62	3.06	0.213	0.15244	.	0.215838	0.39210	N	0.001424	T	0.04679	0.0127	N	0.08118	0	0.09310	N	1	P	0.36616	0.561	B	0.20955	0.032	T	0.34329	-0.9833	10	0.87932	D	0	-1.5102	7.3114	0.26477	0.107:0.342:0.5509:0.0	.	587	Q96RF0	SNX18_HUMAN	F	587	ENSP00000342276:V587F;ENSP00000317332:V587F	ENSP00000317332:V587F	V	+	1	0	SNX18	53851298	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.078000	0.11375	-0.229000	0.09854	-1.268000	0.01426	GTC	SNX18-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214072.2		+	ENST00000326277.3	Missense_Mutation	SNP	5 : 53815541 - 53815541 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	332	71
ZAP70	7535	broad.mit.edu	37	2	98350016	98350016	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98350016C>T	ENST00000264972.5	+	8	1062	c.847C>T	c.(847-849)Cga>Tga	p.R283*	ZAP70_ENST00000442208.1_Nonsense_Mutation_p.R157*|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	283	Interdomain B.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GCCTCAGAGACGAATCGACAC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	58	61			NA	NA	2		NA											NA				98350016		2203	4300	6503	SO:0001587	stop_gained			L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085	7535	7535		SH2 domain containing	12858	protein-coding gene	gene with protein product		176947	zeta-chain (TCR) associated protein kinase (70 kD)	SRK	NA	1423621	Standard		NM_001079	NA	Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.847C>T	2.37:g.98350016C>T	ENSP00000264972:p.Arg283*	NA	A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	37	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677893	0.68042	.	.	ENSG00000115085	ENST00000264972;ENST00000442208	.	.	.	4.43	2.47	0.30058	.	0.517370	0.15567	N	0.255631	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.2272	0.15401	0.2:0.6941:0.0:0.1058	.	.	.	.	X	283;157	.	ENSP00000264972:R283X	R	+	1	2	ZAP70	97716448	0.836000	0.29430	0.973000	0.42090	0.794000	0.44872	0.509000	0.22707	1.202000	0.43218	0.563000	0.77884	CGA	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329278.1		+	ENST00000264972.5	Nonsense_Mutation	SNP	2 : 98350016 - 98350016 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	570	44
C17orf85	55421	broad.mit.edu	37	17	3721599	3721599	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3721599G>T	ENST00000389005.4	-	10	1295	c.1268C>A	c.(1267-1269)aCt>aAt	p.T423N	C17orf85_ENST00000158149.3_Missense_Mutation_p.T143N	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	423							nucleotide binding			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		AGCATACATAGTCATTTTCAT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	86	86			NA	NA	17		NA											NA				3721599		2203	4300	6503	SO:0001583	missense				CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356	55421	55421			24612	protein-coding gene	gene with protein product	ELG protein				NA	11412301	Standard	NM_018553	NM_001114118	NA	Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1268C>A	17.37:g.3721599G>T	ENSP00000373657:p.Thr423Asn	NA	B3KWG7|Q7L406|Q96FK1|Q9NXZ4	37	CCDS45578.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862316	0.91511	.	.	ENSG00000074356	ENST00000389005;ENST00000158149	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.68118	0.2966	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.68911	-0.5284	9	0.66056	D	0.02	-16.0792	17.8291	0.88676	0.0:0.0:1.0:0.0	.	423	Q53F19	CQ085_HUMAN	N	423;143	.	ENSP00000158149:T143N	T	-	2	0	C17orf85	3668348	1.000000	0.71417	0.971000	0.41717	0.995000	0.86356	8.855000	0.92236	2.894000	0.99253	0.591000	0.81541	ACT	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438385.1		-	ENST00000389005.4	Missense_Mutation	SNP	17 : 3721599 - 3721599 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	593	91
ATP8B2	57198	broad.mit.edu	37	1	154300337	154300337	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154300337G>T	ENST00000368489.3	+	1	62	c.62G>T	c.(61-63)aGg>aTg	p.R21M	ATP8B2_ENST00000368487.3_Intron	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	0					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTTCCCTACAGGCATGGGCTT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													184	173	177			NA	NA	1		NA											NA				154300337		2203	4300	6503	SO:0001630	splice_region_variant			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515	57198	57198		ATPases / P-type	13534	protein-coding gene	gene with protein product		605867	ATPase, class I, type 8B, member 2		NA	10574461, 11015572	Standard	NM_020452	NM_020452	NA	Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.62+1G>T	1.37:g.154300337G>T		NA	B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	37	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.337067	0.24253	.	.	ENSG00000143515	ENST00000368489	T	0.09817	2.94	3.21	-0.00885	0.14003	.	10.638800	0.00166	U	0.000010	T	0.01905	0.0060	.	.	.	0.09310	N	0.999999	P	0.43352	0.804	B	0.32289	0.143	T	0.30621	-0.9972	9	0.51188	T	0.08	.	3.0897	0.06290	0.2991:0.2288:0.4721:0.0	.	21	P98198-3	.	M	21	ENSP00000357475:R21M	ENSP00000357475:R21M	R	+	2	0	ATP8B2	152566961	0.001000	0.12720	0.000000	0.03702	0.043000	0.13939	0.579000	0.23788	0.006000	0.14734	0.455000	0.32223	AGG	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087658.2	Missense_Mutation	+	ENST00000368489.3	Splice_Site	SNP	1 : 154300337 - 154300337 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	778	36
ACCSL	390110	broad.mit.edu	37	11	44080142	44080142	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44080142G>A	ENST00000378832.1	+	13	1573	c.1517G>A	c.(1516-1518)cGc>cAc	p.R506H		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	506							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CTCTATTGCCGCTTCCTGGAC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	111	111			NA	NA	11		NA											NA				44080142		1879	4117	5996	SO:0001583	missense				CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126	390110	390110			34391	protein-coding gene	gene with protein product					NA		Standard	NM_001031854	NM_001031854	NA	Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.1517G>A	11.37:g.44080142G>A	ENSP00000368109:p.Arg506His	NA		37	CCDS41636.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.582545	0.28180	.	.	ENSG00000205126	ENST00000378832	D	0.90620	-2.7	5.61	2.64	0.31445	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.240127	0.43747	N	0.000526	D	0.84129	0.5404	L	0.41492	1.28	0.35045	D	0.760078	B	0.33857	0.429	B	0.34242	0.178	T	0.81411	-0.0945	10	0.39692	T	0.17	-4.0909	7.5089	0.27562	0.3487:0.0:0.6513:0.0	.	506	Q4AC99	1A1L2_HUMAN	H	506	ENSP00000368109:R506H	ENSP00000368109:R506H	R	+	2	0	ACCSL	44036718	0.135000	0.22499	0.329000	0.25429	0.576000	0.36127	1.083000	0.30815	0.366000	0.24427	0.655000	0.94253	CGC	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389717.1		+	ENST00000378832.1	Missense_Mutation	SNP	11 : 44080142 - 44080142 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	637	112
EPHA5	2044	broad.mit.edu	37	4	66217294	66217294	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:66217294A>G	ENST00000273854.3	-	14	2921	c.2321T>C	c.(2320-2322)gTg>gCg	p.V774A	EPHA5_ENST00000511294.1_Missense_Mutation_p.V775A|EPHA5_ENST00000354839.4_Missense_Mutation_p.V752A|EPHA5_ENST00000432638.2_Missense_Mutation_p.V611A	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	774	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AAGCTGAATCACAGTGAACTG	0.423		NA								TSP Lung(17;0.13)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	92	96			NA	NA	4		NA											NA				66217294		2203	4300	6503	SO:0001583	missense			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242	2044	2044		EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3389	protein-coding gene	gene with protein product		600004	EphA5		NA	9267020, 7528718	Standard	NM_004439	NM_004439	NA	Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2321T>C	4.37:g.66217294A>G	ENSP00000273854:p.Val774Ala	NA	Q7Z3F2	37	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.702208	0.88924	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	5.74	5.74	0.90152	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.50627	D	0.000103	T	0.62319	0.2418	N	0.05383	-0.06	0.80722	D	1	P;D;P;D	0.63880	0.91;0.992;0.89;0.993	P;D;P;D	0.69142	0.846;0.962;0.761;0.916	T	0.69435	-0.5146	10	0.49607	T	0.09	.	16.0287	0.80560	1.0:0.0:0.0:0.0	.	753;775;752;774	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	A	774;611;752;775	ENSP00000273854:V774A;ENSP00000389208:V611A;ENSP00000346899:V752A;ENSP00000427638:V775A	ENSP00000273854:V774A	V	-	2	0	EPHA5	65899889	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.497000	0.81536	2.202000	0.70862	0.477000	0.44152	GTG	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251388.2		-	ENST00000273854.3	Missense_Mutation	SNP	4 : 66217294 - 66217294 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	363	55
SRP68	6730	broad.mit.edu	37	17	74060107	74060107	+	Missense_Mutation	SNP	G	G	A	rs144739272		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74060107G>A	ENST00000539137.1	-	3	412	c.397C>T	c.(397-399)Cgc>Tgc	p.R133C	SRP68_ENST00000307877.2_Missense_Mutation_p.R171C|SRP68_ENST00000355113.5_Missense_Mutation_p.R70C	NM_001260502.1	NP_001247431.1	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	171					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TCACACAAGCGTTCCAATTCC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													173	158	163			NA	NA	17		NA											NA				74060107		2203	4300	6503	SO:0001583	missense			AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881	6730	6730			11302	protein-coding gene	gene with protein product		604858	signal recognition particle 68kD		NA	10618370	Standard	NM_014230	NM_014230	NA	Approved		uc002jqk.2	Q9UHB9		ENST00000539137.1:c.397C>T	17.37:g.74060107G>A	ENSP00000446136:p.Arg133Cys	NA	Q8NCJ4|Q8WUK2	37	CCDS58601.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449076	0.84101	.	.	ENSG00000167881	ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220;ENST00000355113	.	.	.	5.83	5.83	0.93111	Tetratricopeptide-like helical (1);	0.094954	0.64402	D	0.000002	T	0.67306	0.2879	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.56700	0.736;0.804	T	0.68573	-0.5373	9	0.62326	D	0.03	-14.7833	15.7708	0.78167	0.0:0.0:0.8555:0.1445	.	133;171	G3V1U4;Q9UHB9	.;SRP68_HUMAN	C	133;171;171;171;70	.	ENSP00000307756:R171C	R	-	1	0	SRP68	71571702	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.615000	0.61190	2.753000	0.94483	0.585000	0.79938	CGC	SRP68-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449491.1		-	ENST00000539137.1	Missense_Mutation	SNP	17 : 74060107 - 74060107 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	504	107
SIGLEC8	27181	broad.mit.edu	37	19	51960871	51960871	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51960871C>T	ENST00000321424.3	-	2	643	c.577G>A	c.(577-579)Ggg>Agg	p.G193R	SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000430817.1_Intron|SIGLEC8_ENST00000340550.5_Intron	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	193	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ACGGAGGCCCCAATCCAGGAG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	65	63			NA	NA	19		NA											NA				51960871		2203	4300	6503	SO:0001583	missense			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366	27181	27181		Sialic acid binding Ig-like lectins, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	10877	protein-coding gene	gene with protein product		605639			NA	10625619	Standard	NM_014442	XR_243922	NA	Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.577G>A	19.37:g.51960871C>T	ENSP00000321077:p.Gly193Arg	NA	Q7Z728	37	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	13.80	2.344112	0.41498	.	.	ENSG00000105366	ENST00000321424	T	0.07800	3.16	2.69	1.6	0.23607	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.384458	0.18663	N	0.134666	T	0.17450	0.0419	M	0.86343	2.81	0.09310	N	1	D	0.53151	0.958	P	0.50405	0.64	T	0.10154	-1.0642	10	0.27082	T	0.32	.	6.7857	0.23672	0.2792:0.7208:0.0:0.0	.	193	Q9NYZ4	SIGL8_HUMAN	R	193	ENSP00000321077:G193R	ENSP00000321077:G193R	G	-	1	0	SIGLEC8	56652683	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	0.125000	0.15749	0.430000	0.26230	0.502000	0.49764	GGG	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463648.2		-	ENST00000321424.3	Missense_Mutation	SNP	19 : 51960871 - 51960871 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	580	129
IRF6	3664	broad.mit.edu	37	1	209965773	209965773	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209965773C>T	ENST00000367021.3	-	6	681		c.e6-1		IRF6_ENST00000542854.1_Splice_Site	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	NA					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.?(2)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		ATGGGAGAACCTAAAACAAAA	0.537		NA								HNSCC(57;0.16)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Unknown(2)	lung(2)											60	54	56			NA	NA	1		NA											NA				209965773		2203	4300	6503	SO:0001630	splice_region_variant			AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595	3664	3664			6121	protein-coding gene	gene with protein product		607199	Van der Woude syndrome	VWS, LPS	NA	12219090	Standard	NM_006147	NM_006147	NA	Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.509-1G>A	1.37:g.209965773C>T		NA	D3DT90	37	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001223	0.74818	.	.	ENSG00000117595	ENST00000367021;ENST00000542854;ENST00000456314	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7069	0.96076	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IRF6	208032396	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	6.218000	0.72224	2.654000	0.90174	0.563000	0.77884	.	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088827.1	Intron	-	ENST00000367021.3	Splice_Site	SNP	1 : 209965773 - 209965773 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	51
RP11-295K3.1	0	broad.mit.edu	37	11	1778668	1778668	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1778668C>T	ENST00000427721.1	-	2	201	c.202G>A	c.(202-204)Gca>Aca	p.A68T	CTSD_ENST00000236671.2_Missense_Mutation_p.G197D						NA											NA						GCCCAGGATGCCATCGAACTT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													217	141	167			NA	NA	11		NA											NA				1778668		2202	4299	6501	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000427721.1:c.202G>A	11.37:g.1778668C>T	ENSP00000415840:p.Ala68Thr	NA		37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	29.0|29.0	4.969388|4.969388	0.92855|0.92855	.|.	.|.	ENSG00000250644|ENSG00000117984	ENST00000427721|ENST00000236671;ENST00000438213;ENST00000367196	.|D;D;D	.|0.88201	.|-2.35;-2.06;-2.29	4.11|4.11	4.11|4.11	0.48088|0.48088	.|Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	.|0.108221	.|0.64402	.|D	.|0.000006	D|D	0.97445|0.97445	0.9164|0.9164	H|H	0.99916|0.99916	4.945|4.945	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.99636|0.99636	1.0987|1.0987	5|10	.|0.87932	.|D	.|0	.|.	16.5345|16.5345	0.84369|0.84369	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|197	.|P07339	.|CATD_HUMAN	T|D	68|197;182;162	.|ENSP00000236671:G197D;ENSP00000415036:G182D;ENSP00000356164:G162D	.|ENSP00000236671:G197D	A|G	-|-	1|2	0|0	RP11-295K3.1|CTSD	1735244|1735244	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	6.758000|6.758000	0.74929|0.74929	2.129000|2.129000	0.65627|0.65627	0.472000|0.472000	0.43445|0.43445	GCA|GGC	RP11-295K3.1-001	PUTATIVE	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000366678.1		-	ENST00000427721.1	Missense_Mutation	SNP	11 : 1778668 - 1778668 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	198	35
TGM7	116179	broad.mit.edu	37	15	43574251	43574251	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43574251G>A	ENST00000452443.2	-	9	1146	c.1142C>T	c.(1141-1143)gCc>gTc	p.A381V		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	381					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TTCCCTGATGGCCTTCACAGA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	39	42			NA	NA	15		NA											NA				43574251		2202	4299	6501	SO:0001583	missense			AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495	116179	116179		Transglutaminases	30790	protein-coding gene	gene with protein product	transglutaminase Z	606776			NA	11390390	Standard	NM_052955	NM_052955	NA	Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.1142C>T	15.37:g.43574251G>A	ENSP00000389466:p.Ala381Val	NA		37	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	G	33	5.258926	0.95368	.	.	ENSG00000159495	ENST00000452443	T	0.61859	0.07	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.82263	0.4999	H	0.94306	3.52	0.54753	D	0.999986	D	0.89917	1.0	D	0.71184	0.972	D	0.87394	0.2365	10	0.87932	D	0	-15.8349	16.4717	0.84113	0.0:0.0:1.0:0.0	.	381	Q96PF1	TGM7_HUMAN	V	381	ENSP00000389466:A381V	ENSP00000389466:A381V	A	-	2	0	TGM7	41361543	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.757000	0.85209	2.487000	0.83934	0.655000	0.94253	GCC	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432489.1		-	ENST00000452443.2	Missense_Mutation	SNP	15 : 43574251 - 43574251 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	156	13
AARS2	57505	broad.mit.edu	37	6	44272508	44272508	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44272508G>A	ENST00000244571.4	-	12	1628	c.1626C>T	c.(1624-1626)gaC>gaT	p.D542D	RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	542					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CTGCTGTCCCGTCCTCTGTAT	0.617		NA									OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	47	47			NA	NA	6		NA											NA				44272508		2203	4300	6503	SO:0001819	synonymous_variant			AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	57505	57505	6.1.1.7	Aminoacyl tRNA synthetases / Class II	21022	protein-coding gene	gene with protein product	alanine tRNA ligase 2, mitochondrial	612035	alanyl-tRNA synthetase like, alanyl-tRNA synthetase 2, mitochondrial (putative)	AARSL	NA	15779907, 21549344	Standard	NM_020745	NM_020745	NA	Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.1626C>T	6.37:g.44272508G>A		922	A2RRN5|Q8N198|Q96D02|Q9ULF0	37	CCDS34464.1																																																																																			AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040741.2		-	ENST00000244571.4	Silent	SNP	6 : 44272508 - 44272508 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	278	46
SSX7	280658	broad.mit.edu	37	X	52681355	52681355	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:52681355G>A	ENST00000298181.5	-	4	385	c.227C>T	c.(226-228)gCc>gTc	p.A76V		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	76	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					GAGGTCTGTGGCCCCTGTATT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	153	159			NA	NA	X		NA											NA				52681355		2203	4300	6503	SO:0001583	missense			BK000687	CCDS14343.1	Xp11.23	2011-02-10			ENSG00000187754	ENSG00000187754	280658	280658			19653	protein-coding gene	gene with protein product		300542			NA	12216073	Standard	NM_173358	NM_173358	NA	Approved		uc004dqx.1	Q7RTT5	OTTHUMG00000021572	ENST00000298181.5:c.227C>T	X.37:g.52681355G>A	ENSP00000298181:p.Ala76Val	NA		37	CCDS14343.1	.	.	.	.	.	.	.	.	.	.	N	4.896	0.166444	0.09339	.	.	ENSG00000187754	ENST00000298181	T	0.10005	2.92	0.725	-0.332	0.12675	Krueppel-associated box (2);Krueppel-associated box-related (1);	1.551260	0.03863	N	0.274301	T	0.10165	0.0249	L	0.41573	1.285	0.09310	N	1	B	0.19331	0.035	B	0.23852	0.049	T	0.36578	-0.9742	9	0.36615	T	0.2	.	.	.	.	.	76	Q7RTT5	SSX7_HUMAN	V	76	ENSP00000298181:A76V	ENSP00000298181:A76V	A	-	2	0	SSX7	52698080	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.207000	0.17395	-0.196000	0.10366	0.409000	0.27619	GCC	SSX7-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056671.1		-	ENST00000298181.5	Missense_Mutation	SNP	X : 52681355 - 52681355 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	595	181
SMCHD1	23347	broad.mit.edu	37	18	2707808	2707808	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:2707808C>T	ENST00000320876.6	+	17	2488	c.2150C>T	c.(2149-2151)gCg>gTg	p.A717V	SMCHD1_ENST00000261598.8_Missense_Mutation_p.A717V|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	717					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CTCATAGGTGCGTTAAGAATT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	32	32			NA	NA	18		NA											NA				2707808		1803	4063	5866	SO:0001583	missense			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596	23347	23347			29090	protein-coding gene	gene with protein product		614982			NA	9734811	Standard		NM_015295	NA	Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.2150C>T	18.37:g.2707808C>T	ENSP00000326603:p.Ala717Val	NA	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	37	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018495	0.35606	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.25749	1.78;1.78	5.26	5.26	0.73747	.	0.071383	0.56097	D	0.000036	T	0.24160	0.0585	N	0.24115	0.695	0.34705	D	0.727147	D	0.63046	0.992	P	0.45712	0.491	T	0.13818	-1.0495	10	0.35671	T	0.21	-15.1304	19.2255	0.93816	0.0:1.0:0.0:0.0	.	717	A6NHR9	SMHD1_HUMAN	V	717	ENSP00000326603:A717V;ENSP00000261598:A717V	ENSP00000261598:A717V	A	+	2	0	SMCHD1	2697808	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.910000	0.69931	2.589000	0.87451	0.563000	0.77884	GCG	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000441082.2		+	ENST00000320876.6	Missense_Mutation	SNP	18 : 2707808 - 2707808 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	73	13
ILF3	3609	broad.mit.edu	37	19	10781680	10781680	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10781680C>T	ENST00000592763.1	+	2	34	c.34C>T	c.(34-36)Cgc>Tgc	p.R12C	ILF3_ENST00000250241.8_Missense_Mutation_p.R12C|ILF3_ENST00000588657.1_Missense_Mutation_p.R12C|ILF3_ENST00000407004.3_Missense_Mutation_p.R12C|ILF3_ENST00000318511.3_Missense_Mutation_p.R12C|ILF3_ENST00000420083.1_Missense_Mutation_p.R12C|ILF3_ENST00000449870.1_Missense_Mutation_p.R12C|ILF3_ENST00000589998.1_Missense_Mutation_p.R12C|ILF3_ENST00000590261.1_Missense_Mutation_p.R12C			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	12					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GAATGATGACCGCCATGTGAT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	57	59			NA	NA	19		NA											NA				10781680		2203	4300	6503	SO:0001583	missense			U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351	3609	3609			6038	protein-coding gene	gene with protein product	M-phase phosphoprotein 4	603182	interleukin enhancer binding factor 3, 90kD		NA	7519613, 8885239	Standard		NM_012218	NA	Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000592763.1:c.34C>T	19.37:g.10781680C>T	ENSP00000465515:p.Arg12Cys	NA	A8K6F2|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	37		.	.	.	.	.	.	.	.	.	.	C	29.1	4.978781	0.92982	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.33	5.33	0.75918	.	0.055575	0.64402	D	0.000001	T	0.64800	0.2631	M	0.89601	3.045	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.989;0.976;0.998;0.994;0.989	T	0.71133	-0.4681	10	0.87932	D	0	.	18.3088	0.90192	0.0:1.0:0.0:0.0	.	12;12;12;12;12	G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;ILF3_HUMAN;.;.;.	C	12	ENSP00000404121:R12C;ENSP00000315205:R12C;ENSP00000405436:R12C;ENSP00000384660:R12C;ENSP00000250241:R12C	ENSP00000250241:R12C	R	+	1	0	ILF3	10642680	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.459000	0.80802	2.932000	0.99384	0.643000	0.83706	CGC	ILF3-004	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000452072.1		+	ENST00000592763.1	Missense_Mutation	SNP	19 : 10781680 - 10781680 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	135	25
DIAPH1	1729	broad.mit.edu	37	5	140913993	140913993	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140913993C>A	ENST00000389054.3	-	18	2621	c.2481G>T	c.(2479-2481)aaG>aaT	p.K827N	DIAPH1_ENST00000389057.5_Missense_Mutation_p.K821N|DIAPH1_ENST00000398557.4_Missense_Mutation_p.K830N|DIAPH1_ENST00000520569.1_Missense_Mutation_p.K773N|DIAPH1_ENST00000398566.3_Missense_Mutation_p.K822N|DIAPH1_ENST00000253811.6_Missense_Mutation_p.K831N|DIAPH1_ENST00000398562.2_Missense_Mutation_p.K806N|DIAPH1_ENST00000494967.1_5'UTR|DIAPH1_ENST00000518047.1_Missense_Mutation_p.K818N			O60610	DIAP1_HUMAN	diaphanous-related formin 1	830	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTTGATCCTTCTTGGCTA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	126	130			NA	NA	5		NA											NA				140913993		1818	4090	5908	SO:0001583	missense			BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504	1729	1729			2876	protein-coding gene	gene with protein product		602121	diaphanous (Drosophila, homolog) 1, diaphanous homolog 1 (Drosophila)	DFNA1	NA	9360932, 1350680	Standard	NM_005219	NM_005219	NA	Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000389054.3:c.2481G>T	5.37:g.140913993C>A	ENSP00000373706:p.Lys827Asn	NA	A6NF18|B7ZKW2|Q59FH8|Q9UC76	37		.	.	.	.	.	.	.	.	.	.	C	39	7.439464	0.98286	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047;ENST00000546094	T;T;T;T;D;T;D;T	0.83506	2.24;2.24;2.24;-0.15;-1.73;-0.15;-1.73;2.24	5.62	1.85	0.25348	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.056142	0.64402	D	0.000002	D	0.88607	0.6482	M	0.78916	2.43	0.51482	D	0.999924	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.77557	0.99;0.958;0.958	D	0.85853	0.1405	10	0.45353	T	0.12	.	8.7768	0.34767	0.0:0.5452:0.0:0.4547	.	773;821;830	E7ERW8;E9PEZ2;O60610	.;.;DIAP1_HUMAN	N	827;773;806;821;822;830;831;818;269	ENSP00000373706:K827N;ENSP00000429282:K773N;ENSP00000381570:K806N;ENSP00000373709:K821N;ENSP00000381572:K822N;ENSP00000381565:K830N;ENSP00000253811:K831N;ENSP00000428268:K818N	ENSP00000253811:K831N	K	-	3	2	DIAPH1	140894177	0.955000	0.32602	1.000000	0.80357	0.975000	0.68041	-0.030000	0.12308	0.321000	0.23259	-0.145000	0.13849	AAG	DIAPH1-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000313771.3		-	ENST00000389054.3	Missense_Mutation	SNP	5 : 140913993 - 140913993 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	350	64
SOGA1	140710	broad.mit.edu	37	20	35467829	35467829	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35467829G>T	ENST00000237536.4	-	2	1044	c.703C>A	c.(703-705)Ctg>Atg	p.L235M	SOGA1_ENST00000357779.3_De_novo_Start_InFrame|SOGA1_ENST00000279034.6_De_novo_Start_InFrame	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	617										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TCGGCCCGCAGCTCCTCAATC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	30	29			NA	NA	20		NA											NA				35467829		2099	4232	6331	SO:0001583	missense			AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639	140710	140710			16111	protein-coding gene	gene with protein product	suppressor of glucose by autophagy, suppressor of glucose from autophagy		chromosome 20 open reading frame 117, KIAA0889	C20orf117, KIAA0889	NA	20813965	Standard	NM_199181	NM_080627	NA	Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000237536.4:c.703C>A	20.37:g.35467829G>T	ENSP00000237536:p.Leu235Met	NA	A6NK10|Q14DB2|Q5JW51|Q6ZTG8	37	CCDS54459.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.064364	0.76187	.	.	ENSG00000149639	ENST00000237536	T	0.33865	1.39	4.86	3.91	0.45181	.	0.000000	0.32301	N	0.006292	T	0.49029	0.1533	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47761	-0.9092	7	0.41790	T	0.15	-12.9197	14.2381	0.65941	0.0:0.1505:0.8495:0.0	.	.	.	.	M	235	ENSP00000237536:L235M	ENSP00000237536:L235M	L	-	1	2	KIAA0889	34901243	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.448000	0.73469	1.255000	0.44051	0.491000	0.48974	CTG	SOGA1-005	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276635.1		-	ENST00000237536.4	Missense_Mutation	SNP	20 : 35467829 - 35467829 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	246	54
TRPM6	140803	broad.mit.edu	37	9	77431663	77431663	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77431663C>A	ENST00000360774.1	-	11	1467	c.1230G>T	c.(1228-1230)gaG>gaT	p.E410D	TRPM6_ENST00000449912.2_Missense_Mutation_p.E405D|TRPM6_ENST00000376872.3_Missense_Mutation_p.E410D|TRPM6_ENST00000376871.3_Missense_Mutation_p.E410D|TRPM6_ENST00000361255.3_Missense_Mutation_p.E405D|TRPM6_ENST00000451710.3_Missense_Mutation_p.E410D|TRPM6_ENST00000376864.4_Missense_Mutation_p.E410D	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	410					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GATTTAATTGCTCTGACGCTG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	112	113			NA	NA	9		NA											NA				77431663		2203	4300	6503	SO:0001583	missense			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121	140803	140803		Voltage-gated ion channels / Transient receptor potential cation channels	17995	protein-coding gene	gene with protein product		607009	hypomagnesemia, secondary hypocalcemia	HOMG, HSH	NA	10021370, 12032570, 16382100	Standard	NM_017662	NM_017662	NA	Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1230G>T	9.37:g.77431663C>A	ENSP00000354006:p.Glu410Asp	NA	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	2.668	-0.278271	0.05679	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.68	-1.39	0.08997	.	0.205802	0.52532	D	0.000073	T	0.24890	0.0604	N	0.02213	-0.635	0.35799	D	0.822992	B;B;B;B	0.12013	0.001;0.003;0.005;0.001	B;B;B;B	0.15484	0.002;0.002;0.013;0.008	T	0.30621	-0.9972	10	0.02654	T	1	.	0.3834	0.00398	0.1901:0.2448:0.2043:0.3608	.	410;410;410;405	Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3	.;.;TRPM6_HUMAN;.	D	410;410;410;410;405;405;410;73;73	ENSP00000354006:E410D;ENSP00000407341:E410D;ENSP00000366068:E410D;ENSP00000366067:E410D;ENSP00000396672:E405D;ENSP00000354962:E405D;ENSP00000366060:E410D	ENSP00000309693:E73D	E	-	3	2	TRPM6	76621483	0.992000	0.36948	1.000000	0.80357	0.813000	0.45954	0.289000	0.18957	0.127000	0.18452	-0.378000	0.06908	GAG	TRPM6-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052693.1		-	ENST00000360774.1	Missense_Mutation	SNP	9 : 77431663 - 77431663 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	463	78
PIGQ	9091	broad.mit.edu	37	16	628425	628425	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:628425C>T	ENST00000321878.5	+	5	1148	c.989C>T	c.(988-990)gCt>gTt	p.A330V	PIGQ_ENST00000026218.5_Missense_Mutation_p.A330V|PIGQ_ENST00000409527.2_Missense_Mutation_p.A330V|PIGQ_ENST00000544860.1_3'UTR	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	330	Leu-rich.				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CTGATGGGTGCTCCCGCCGGG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	36	37			NA	NA	16		NA											NA				628425		2197	4298	6495	SO:0001583	missense			AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541	9091	9091		Phosphatidylinositol glycan anchor biosynthesis	14135	protein-coding gene	gene with protein product		605754	phosphatidylinositol glycan, class Q		NA	9463366, 9729469	Standard	NM_004204	NM_004204	NA	Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000321878.5:c.989C>T	16.37:g.628425C>T	ENSP00000326674:p.Ala330Val	NA	A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	37	CCDS10412.1	.	.	.	.	.	.	.	.	.	.	C	7.808	0.715057	0.15306	.	.	ENSG00000007541	ENST00000409527;ENST00000321878;ENST00000026218	T;T;T	0.44881	0.91;0.91;2.2	5.47	3.32	0.38043	.	0.097986	0.64402	D	0.000001	T	0.16896	0.0406	N	0.02213	-0.635	0.80722	D	1	P;P;B	0.44776	0.62;0.843;0.033	B;B;B	0.40659	0.136;0.336;0.027	T	0.04203	-1.0969	10	0.14656	T	0.56	-8.6134	10.2282	0.43238	0.0:0.7882:0.0:0.2118	.	344;330;330	E7ERP4;Q9BRB3;Q9BRB3-2	.;PIGQ_HUMAN;.	V	330	ENSP00000386760:A330V;ENSP00000326674:A330V;ENSP00000026218:A330V	ENSP00000026218:A330V	A	+	2	0	PIGQ	568426	0.983000	0.35010	0.045000	0.18777	0.349000	0.29174	2.593000	0.46180	1.337000	0.45525	-0.229000	0.12294	GCT	PIGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109083.3		+	ENST00000321878.5	Missense_Mutation	SNP	16 : 628425 - 628425 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	314	51
C4orf46	201725	broad.mit.edu	37	4	159592872	159592872	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159592872C>A	ENST00000379205.4	-	1	326	c.82G>T	c.(82-84)Gca>Tca	p.A28S	C4orf46_ENST00000508457.1_Missense_Mutation_p.A28S|C4orf46_ENST00000508836.1_Intron	NM_001008393.2	NP_001008394.1	Q504U0	CD046_HUMAN	chromosome 4 open reading frame 46	28										kidney(1)|lung(3)|skin(1)	5						GGGGAAGATGCTGCAGAGGCG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	19	19			NA	NA	4		NA											NA				159592872		2200	4298	6498	SO:0001583	missense				CCDS34088.1	4q32.1	2014-07-30			ENSG00000205208	ENSG00000205208	201725	201725			27320	protein-coding gene	gene with protein product	renal cancer differentiation gene 1				NA		Standard	NM_001008393	NM_001008393	NA	Approved	LOC201725, RCDG1	uc003iqa.3	Q504U0	OTTHUMG00000161919	ENST00000379205.4:c.82G>T	4.37:g.159592872C>A	ENSP00000368503:p.Ala28Ser	NA	B3KNH7	37	CCDS34088.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.224322	0.39300	.	.	ENSG00000205208	ENST00000379205;ENST00000508457	.	.	.	4.11	-2.98	0.05513	.	1.353090	0.05058	N	0.479411	T	0.15825	0.0381	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.15350	-1.0440	9	0.23891	T	0.37	.	3.4512	0.07499	0.4545:0.2543:0.0:0.2912	.	28	Q504U0	CD046_HUMAN	S	28	.	ENSP00000368503:A28S	A	-	1	0	C4orf46	159812322	0.070000	0.21116	0.000000	0.03702	0.001000	0.01503	-0.319000	0.08039	-0.435000	0.07264	-0.222000	0.12452	GCA	C4orf46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366378.1		-	ENST00000379205.4	Missense_Mutation	SNP	4 : 159592872 - 159592872 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	80	17
TTN	7273	broad.mit.edu	37	2	179401007	179401007	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179401007A>G	ENST00000589042.1	-	357	100691	c.100467T>C	c.(100465-100467)tcT>tcC	p.S33489S	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000342992.6_Silent_p.S30921S|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000591111.1_Silent_p.S31848S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Silent_p.S24616S|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000359218.5_Silent_p.S24549S|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.S24424S|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588257.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31848	Ig-like 147.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGGACATCAGATTTGGGAG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	79	81			NA	NA	2		NA											NA				179401007		1878	4112	5990	SO:0001819	synonymous_variant			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.100467T>C	2.37:g.179401007A>G		NA	E7ET18	37	CCDS59435.1																																																																																			TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Silent	SNP	2 : 179401007 - 179401007 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	151	38
SYCP2L	221711	broad.mit.edu	37	6	10927525	10927525	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10927525C>T	ENST00000283141.6	+	17	1661	c.1365C>T	c.(1363-1365)gaC>gaT	p.D455D	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	455						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			CTGAAGATGACCGCTGCCTAA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	128	129			NA	NA	6		NA											NA				10927525		1967	4165	6132	SO:0001819	synonymous_variant			AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157	221711	221711			21537	protein-coding gene	gene with protein product			chromosome 6 open reading frame 177	C6orf177	NA		Standard	NM_194299	NM_001040274	NA	Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.1365C>T	6.37:g.10927525C>T		NA	A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	37	CCDS43423.1																																																																																			SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039845.3		+	ENST00000283141.6	Silent	SNP	6 : 10927525 - 10927525 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	400	17
ZNF852	285346	broad.mit.edu	37	3	44541647	44541647	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44541647T>C	ENST00000436261.1	-	4	782	c.622A>G	c.(622-624)Acc>Gcc	p.T208A	ZNF852_ENST00000489411.1_5'UTR			B6EU87	B6EU87_HUMAN	zinc finger protein 852	208					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)	8						CCTGTGTGGGTTCTGAGATGA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			BC014381		3p21.32	2013-01-08			ENSG00000178917	ENSG00000178917	285346	285346		Zinc fingers, C2H2-type, -	27713	protein-coding gene	gene with protein product					NA		Standard	XM_001717402	NM_001287349	NA	Approved		uc011azx.2	Q6ZMS4	OTTHUMG00000156453	ENST00000436261.1:c.622A>G	3.37:g.44541647T>C	ENSP00000389841:p.Thr208Ala	NA		37		.	.	.	.	.	.	.	.	.	.	T	12.35	1.911863	0.33721	.	.	ENSG00000178917	ENST00000436261;ENST00000313378	T	0.11930	2.73	2.72	2.72	0.32119	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10035	0.0246	.	.	.	0.22787	N	0.998738	B	0.06786	0.001	B	0.06405	0.002	T	0.18618	-1.0331	8	0.72032	D	0.01	.	6.1956	0.20548	0.0:0.1294:0.0:0.8706	.	174	Q6ZMS4	ZN852_HUMAN	A	208	ENSP00000389841:T208A	ENSP00000322569:T208A	T	-	1	0	ZNF852	44516651	0.000000	0.05858	0.989000	0.46669	0.970000	0.65996	0.653000	0.24902	1.503000	0.48686	0.254000	0.18369	ACC	ZNF852-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000344244.1		-	ENST00000436261.1	Missense_Mutation	SNP	3 : 44541647 - 44541647 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	188	39
CYP8B1	1582	broad.mit.edu	37	3	42906716	42906716	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42906716G>T	ENST00000437102.1	-	2	1429				ACKR2_ENST00000273145.2_Missense_Mutation_p.R241M|ACKR2_ENST00000422265.1_Missense_Mutation_p.R241M|ACKR2_ENST00000442925.1_Missense_Mutation_p.R241M|KRBOX1_ENST00000426937.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA			Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	NA					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		GTGAGGCTGAGGCCCGCAGGC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	114	114			NA	NA	3		NA											NA				42906716		2203	4300	6503	SO:0001627	intron_variant			AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432	1582	1582		Cytochrome P450s	2653	protein-coding gene	gene with protein product		602172	cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1		NA	10051404	Standard	NM_004391	NM_004391	NA	Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000437102.1:c.1348-8753C>A	3.37:g.42906716G>T		NA	B2RCY3|O75958|Q6NWT2|Q6NWT3	37		.	.	.	.	.	.	.	.	.	.	G	12.90	2.077645	0.36662	.	.	ENSG00000144648	ENST00000442925;ENST00000422265;ENST00000273145	T;T;T	0.40476	1.03;1.03;1.03	4.49	1.61	0.23674	GPCR, rhodopsin-like superfamily (1);	0.353818	0.19894	N	0.103664	T	0.56978	0.2022	M	0.82630	2.6	0.09310	N	0.999997	D	0.57571	0.98	P	0.58780	0.845	T	0.49513	-0.8932	9	.	.	.	.	7.5575	0.27833	0.2964:0.0:0.7036:0.0	.	241	O00590	CCBP2_HUMAN	M	241	ENSP00000396150:R241M;ENSP00000416996:R241M;ENSP00000273145:R241M	.	R	+	2	0	CCBP2	42881720	0.001000	0.12720	0.988000	0.46212	0.545000	0.35147	-0.247000	0.08866	0.134000	0.18681	0.563000	0.77884	AGG	CYP8B1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000344172.1		-	ENST00000437102.1	Intron	SNP	3 : 42906716 - 42906716 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	853	160
CLASP1	23332	broad.mit.edu	37	2	122220119	122220119	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:122220119G>A	ENST00000409078.3	-	10	1428	c.928C>T	c.(928-930)Cct>Tct	p.P310S	CLASP1_ENST00000545861.1_Missense_Mutation_p.P78S|CLASP1_ENST00000455322.2_Missense_Mutation_p.P310S|CLASP1_ENST00000430234.1_5'UTR|CLASP1_ENST00000263710.4_Missense_Mutation_p.P310S|CLASP1_ENST00000541377.1_Missense_Mutation_p.P310S|CLASP1_ENST00000541859.1_Missense_Mutation_p.P79S|CLASP1_ENST00000397587.3_Missense_Mutation_p.P310S			Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	310					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TGTACTACAGGTACATCATCA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	80	81			NA	NA	2		NA											NA				122220119		1851	4101	5952	SO:0001583	missense			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054	23332	23332			17088	protein-coding gene	gene with protein product	multiple asters 1	605852			NA	9734811, 10899121, 16914514	Standard	NM_015282	NM_015282	NA	Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000409078.3:c.928C>T	2.37:g.122220119G>A	ENSP00000386442:p.Pro310Ser	NA	O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	37		.	.	.	.	.	.	.	.	.	.	G	23.8	4.459774	0.84317	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861;ENST00000418989;ENST00000449975	T;T;T;T;T;T;T;T	0.66099	-0.15;1.96;1.97;1.94;0.65;1.97;0.5;-0.19	5.13	5.13	0.70059	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70509	0.3232	M	0.77486	2.375	0.80722	D	1	P;P;P;P	0.49559	0.877;0.925;0.9;0.917	B;P;B;P	0.47075	0.335;0.536;0.412;0.521	T	0.76274	-0.3019	10	0.87932	D	0	-0.6289	17.2951	0.87168	0.0:0.0:1.0:0.0	.	310;310;310;310	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	S	310;310;310;310;79;310;78;79;79	ENSP00000263710:P310S;ENSP00000389372:P310S;ENSP00000380717:P310S;ENSP00000441625:P310S;ENSP00000441770:P79S;ENSP00000386442:P310S;ENSP00000392886:P79S;ENSP00000402101:P79S	ENSP00000263710:P310S	P	-	1	0	CLASP1	121936589	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.990000	0.76225	2.824000	0.97209	0.655000	0.94253	CCT	CLASP1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000330853.4		-	ENST00000409078.3	Missense_Mutation	SNP	2 : 122220119 - 122220119 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	85	29
MUC16	94025	broad.mit.edu	37	19	8982221	8982221	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8982221C>A	ENST00000397910.4	-	70	42257	c.42054G>T	c.(42052-42054)caG>caT	p.Q14018H	MUC16_ENST00000380951.5_Missense_Mutation_p.Q659H	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14043	SEA 13.			Missing (in Ref. 3; AAK74120).	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						CATGGGTCTGCTGGCTCAGCT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	56	54			NA	NA	19		NA											NA				8982221		2031	4177	6208	SO:0001583	missense			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.42054G>T	19.37:g.8982221C>A	ENSP00000381008:p.Gln14018His	NA	Q6ZQW5|Q96RK2	37	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.472|8.472	0.857870|0.857870	0.17178|0.17178	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.47869|.	0.83;0.83|.	3.89|3.89	1.58|1.58	0.23477|0.23477	SEA (1);|.	2.222600|.	0.02344|.	N|.	0.075212|.	T|T	0.33323|0.33323	0.0859|0.0859	L|L	0.41415|0.41415	1.275|1.275	.|.	.|.	.|.	B;D|.	0.53312|.	0.016;0.959|.	B;D|.	0.67725|.	0.006;0.953|.	T|T	0.37033|0.37033	-0.9723|-0.9723	9|4	0.37606|.	T|.	0.19|.	.|.	3.9472|3.9472	0.09353|0.09353	0.226:0.6371:0.0:0.1369|0.226:0.6371:0.0:0.1369	.|.	21663;14018|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	H|I	14018;659|858	ENSP00000381008:Q14018H;ENSP00000370338:Q659H|.	ENSP00000370338:Q659H|.	Q|S	-|-	3|2	2|0	MUC16|MUC16	8843221|8843221	0.243000|0.243000	0.23878|0.23878	0.635000|0.635000	0.29338|0.29338	0.009000|0.009000	0.06853|0.06853	0.278000|0.278000	0.18753|0.18753	0.510000|0.510000	0.28216|0.28216	-0.291000|-0.291000	0.09656|0.09656	CAG|AGC	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Missense_Mutation	SNP	19 : 8982221 - 8982221 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	274	18
RFX5	5993	broad.mit.edu	37	1	151316355	151316355	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151316355C>A	ENST00000290524.4	-	9	737	c.559G>T	c.(559-561)Gaa>Taa	p.E187*	RFX5_ENST00000452671.2_Nonsense_Mutation_p.E187*|RFX5_ENST00000368870.2_Nonsense_Mutation_p.E187*|RFX5_ENST00000452513.2_Nonsense_Mutation_p.E147*	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	187						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGGCCCATTTCTGGCTGAAGT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	54	55			NA	NA	1		NA											NA				151316355		2203	4300	6503	SO:0001587	stop_gained				CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390	5993	5993			9986	protein-coding gene	gene with protein product		601863			NA	9401005	Standard	NM_000449	XM_005245405	NA	Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.559G>T	1.37:g.151316355C>A	ENSP00000290524:p.Glu187*	NA	D3DV19|Q5VWC3	37	CCDS994.1	.	.	.	.	.	.	.	.	.	.	C	37	6.406966	0.97542	.	.	ENSG00000143390	ENST00000290524;ENST00000368870;ENST00000436637;ENST00000452671;ENST00000452513;ENST00000392746;ENST00000422595	.	.	.	5.81	4.89	0.63831	.	0.258141	0.36972	N	0.002303	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-21.5308	15.0322	0.71717	0.1434:0.8566:0.0:0.0	.	.	.	.	X	187;187;79;187;147;187;187	.	ENSP00000290524:E187X	E	-	1	0	RFX5	149582979	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.499000	0.73683	1.446000	0.47643	0.655000	0.94253	GAA	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034892.6		-	ENST00000290524.4	Nonsense_Mutation	SNP	1 : 151316355 - 151316355 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	81
CCDC150	284992	broad.mit.edu	37	2	197596779	197596779	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197596779C>A	ENST00000389175.4	+	27	3227	c.3092C>A	c.(3091-3093)gCt>gAt	p.A1031D	CCDC150_ENST00000409270.1_Missense_Mutation_p.A518D|CCDC150_ENST00000272831.7_Missense_Mutation_p.A678D	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	1031										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CTGGAAGAAGCTCATCGCTGG	0.393		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	2		NA											NA				197596779		1836	4087	5923	SO:0001583	missense				CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395	284992	284992			26834	protein-coding gene	gene with protein product					NA		Standard	NM_001080539	NM_001080539	NA	Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.3092C>A	2.37:g.197596779C>A	ENSP00000373827:p.Ala1031Asp	NA	Q6P5U6|Q6P663|Q8N8V5	37	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.769785	0.31320	.	.	ENSG00000144395	ENST00000272831;ENST00000389175;ENST00000409270	T	0.57907	0.37	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000020	T	0.67011	0.2848	L	0.50333	1.59	0.80722	D	1	D;P	0.89917	1.0;0.865	D;B	0.87578	0.998;0.301	T	0.65928	-0.6049	10	0.48119	T	0.1	-6.3465	15.6931	0.77469	0.0:1.0:0.0:0.0	.	678;1031	B4DZ03;Q8NCX0	.;CC150_HUMAN	D	678;1031;518	ENSP00000373827:A1031D	ENSP00000272831:A678D	A	+	2	0	CCDC150	197305024	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	2.822000	0.48073	2.679000	0.91253	0.650000	0.86243	GCT	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335377.2		+	ENST00000389175.4	Missense_Mutation	SNP	2 : 197596779 - 197596779 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	76
PCDHGA6	56109	broad.mit.edu	37	5	140755255	140755255	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140755255C>T	ENST00000517434.1	+	1	1605	c.1605C>T	c.(1603-1605)agC>agT	p.S535S	PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			protocadherin gamma subfamily A, 6	NA										breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACAGCCAGCGACAGCGGGG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	120	113			NA	NA	5		NA											NA				140755255		2192	4299	6491	SO:0001819	synonymous_variant			AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731	56109	56109		Cadherins / Protocadherins : Clustered	8704	other	protocadherin		606293			NA	10380929	Standard	NM_018919	NM_018919	NA	Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1605C>T	5.37:g.140755255C>T		NA		37	CCDS54926.1																																																																																			PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374743.1		+	ENST00000517434.1	Silent	SNP	5 : 140755255 - 140755255 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1246	241
DLGAP2	9228	broad.mit.edu	37	8	1580998	1580998	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:1580998C>T	ENST00000421627.2	+	5	1490	c.1356C>T	c.(1354-1356)agC>agT	p.S452S		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	531					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TGCAGGTGAGCGAGGCGGAGA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	107	105			NA	NA	8		NA											NA				1580998		2181	4269	6450	SO:0001819	synonymous_variant			AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010	9228	9228			2906	protein-coding gene	gene with protein product		605438	discs, large (Drosophila) homolog-associated protein 2		NA	9286858, 10854099	Standard	NM_004745	NM_004745	NA	Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.1356C>T	8.37:g.1580998C>T		NA	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	37	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	C	2.019	-0.425295	0.04701	.	.	ENSG00000198010	ENST00000520901	.	.	.	5.06	-10.1	0.00402	.	.	.	.	.	T	0.62011	0.2393	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73392	-0.3997	4	.	.	.	-10.2684	17.3139	0.87217	0.0:0.0974:0.0:0.9026	.	.	.	.	V	469	.	.	A	+	2	0	DLGAP2	1568405	0.999000	0.42202	0.250000	0.24296	0.151000	0.21798	0.431000	0.21444	-2.268000	0.00685	-1.022000	0.02435	GCG	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374478.1		+	ENST00000421627.2	Silent	SNP	8 : 1580998 - 1580998 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	107	11
PCSK6	5046	broad.mit.edu	37	15	101933572	101933572	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101933572C>T	ENST00000561177.1	-	0	1220				PCSK6_ENST00000344273.2_Missense_Mutation_p.G351R|PCSK6_ENST00000331826.7_Missense_Mutation_p.G186R|PCSK6_ENST00000358417.3_Missense_Mutation_p.G351R|PCSK6_ENST00000348070.1_Missense_Mutation_p.G351R|PCSK6_ENST00000398181.2_Missense_Mutation_p.G351R			P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	NA					glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAGTAGTCCCCCTCTCTCCCG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	71	68			NA	NA	15		NA											NA				101933572		2203	4300	6503	SO:0001623	5_prime_UTR_variant				CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479	5046	5046			8569	protein-coding gene	gene with protein product	subtilisin-like protease, subtilisin-like proprotein convertase 4, subtilisin/kexin-like protease PACE4	167405	paired basic amino acid cleaving system 4	PACE4	NA	1741956	Standard	NM_002570	NM_002570	NA	Approved	SPC4	uc002bwy.3	P29122		ENST00000561177.1:c.-3187G>A	15.37:g.101933572C>T		NA	Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	37		.	.	.	.	.	.	.	.	.	.	C	13.18	2.159489	0.38119	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181;ENST00000331826	D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36	5.61	5.61	0.85477	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.048919	0.85682	D	0.000000	D	0.91593	0.7344	L	0.37466	1.105	0.48762	D	0.999704	D;B;B;B;B;B;P;B;B	0.89917	1.0;0.42;0.055;0.044;0.055;0.055;0.782;0.285;0.333	D;B;B;B;B;B;B;B;B	0.97110	1.0;0.223;0.05;0.03;0.05;0.05;0.3;0.091;0.147	D	0.88946	0.3383	10	0.25106	T	0.35	-36.4737	18.9896	0.92786	0.0:1.0:0.0:0.0	.	352;257;351;352;351;351;352;352;351	P29122;Q59H04;E7EUC8;P29122-4;E7EWH5;E7EQ62;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.;.;.;.;.	R	351;351;256;351;351;186	ENSP00000305056:G351R;ENSP00000351193:G351R;ENSP00000344410:G351R;ENSP00000381243:G351R;ENSP00000332052:G186R	ENSP00000332052:G186R	G	-	1	0	PCSK6	99751095	0.227000	0.23707	0.997000	0.53966	0.572000	0.35998	2.255000	0.43222	2.793000	0.96121	0.655000	0.94253	GGG	PCSK6-001	KNOWN	basic	processed_transcript	NA	protein_coding	OTTHUMT00000416811.5		-	ENST00000561177.1	5'UTR	SNP	15 : 101933572 - 101933572 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	251	55
TTN	7273	broad.mit.edu	37	2	179474468	179474468	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179474468C>T	ENST00000589042.1	-	272	51906	c.51682G>A	c.(51682-51684)Gcg>Acg	p.A17228T	TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A14660T|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A15587T|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A8355T|TTN_ENST00000359218.5_Missense_Mutation_p.A8288T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A8163T|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15587	Fibronectin type-III 24.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTAATACCCGCGGCGTTCTCT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,3743		0,1,1871	228	219	222		24487,43978,24862,25063	5.8	1	2		222	0,8206		0,0,4103	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	58,58,58,58	0,1,5974	TT,TC,CC	NA	0.0,0.0267,0.0084	probably-damaging,probably-damaging,probably-damaging,probably-damaging	8163/26927,14660/33424,8288/27052,8355/27119	179474468	1,11949	1872	4103	5975	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.51682G>A	2.37:g.179474468C>T	ENSP00000467141:p.Ala17228Thr	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545804	0.65198	2.67E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.85	5.85	0.93711	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76285	0.3966	M	0.80847	2.515	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.78091	-0.2339	9	0.87932	D	0	.	20.1649	0.98147	0.0:1.0:0.0:0.0	.	8163;8288;8355;15587	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	14660;8163;8355;8288;8163	ENSP00000343764:A14660T;ENSP00000434586:A8163T;ENSP00000340554:A8355T;ENSP00000352154:A8288T	ENSP00000340554:A8355T	A	-	1	0	TTN	179182713	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.818000	0.86416	2.753000	0.94483	0.655000	0.94253	GCG	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179474468 - 179474468 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1324	328
POLDIP3	84271	broad.mit.edu	37	22	42988051	42988051	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42988051G>A	ENST00000252115.5	-	7	1035	c.931C>T	c.(931-933)Ctg>Ttg	p.L311L	POLDIP3_ENST00000348657.2_Silent_p.L282L|POLDIP3_ENST00000451060.2_Silent_p.L155L|POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000491021.1_5'UTR	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	311	RRM.				positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						GGATGGACCAGTCGAGCTCGC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(52;967 1128 5875 19997 42537)							NA				0													177	154	162			NA	NA	22		NA											NA				42988051		2203	4300	6503	SO:0001819	synonymous_variant				CCDS14038.1, CCDS14039.1, CCDS74873.1	22q13.31	2013-02-12			ENSG00000100227	ENSG00000100227	84271	84271		RNA binding motif (RRM) containing	23782	protein-coding gene	gene with protein product		611520			NA	12522211	Standard	NM_032311	NM_032311	NA	Approved	PDIP46, KIAA1649	uc003bcu.3	Q9BY77	OTTHUMG00000150887	ENST00000252115.5:c.931C>T	22.37:g.42988051G>A		NA	A8K6F8|A8K6V9|Q009A7|Q5H972|Q6PGN6|Q7Z6Z0|Q9NSP5|Q9NSP6	37	CCDS14038.1																																																																																			POLDIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320433.1		-	ENST00000252115.5	Silent	SNP	22 : 42988051 - 42988051 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	856	135
LYPD4	147719	broad.mit.edu	37	19	42342046	42342046	+	Silent	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42342046A>T	ENST00000330743.3	-	4	1712	c.501T>A	c.(499-501)gcT>gcA	p.A167A	LYPD4_ENST00000343055.4_Silent_p.A132A|LYPD4_ENST00000601246.1_Silent_p.A132A	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	167	UPAR/Ly6.					anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						AACACGTAGAAGCAGCCAAGG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	62	63			NA	NA	19		NA											NA				42342046		2203	4300	6503	SO:0001819	synonymous_variant			AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111	147719	147719			28659	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_173506	XM_005278383	NA	Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.501T>A	19.37:g.42342046A>T		NA	Q8IYW0	37	CCDS12587.1																																																																																			LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463039.1		-	ENST00000330743.3	Silent	SNP	19 : 42342046 - 42342046 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	242	13
MCCC2	64087	broad.mit.edu	37	5	70939654	70939654	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:70939654C>T	ENST00000340941.6	+	12	1210	c.1081C>T	c.(1081-1083)Cga>Tga	p.R361*	MCCC2_ENST00000323375.8_Nonsense_Mutation_p.R323*	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	361	Acyl-CoA binding (Potential).|Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	AGGATTTGCTCGAATATTTGG	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	161	157			NA	NA	5		NA											NA				70939654		2203	4300	6503	SO:0001587	stop_gained			AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	64087	64087	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	methylcrotonoyl-Coenzyme A carboxylase 2 (beta)		NA		Standard		NM_022132	NA	Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.1081C>T	5.37:g.70939654C>T	ENSP00000343657:p.Arg361*	NA	A6NIY9|Q96C27|Q9Y4L7	37	CCDS34184.1	.	.	.	.	.	.	.	.	.	.	C	36	5.686458	0.96784	.	.	ENSG00000131844	ENST00000340941;ENST00000323375;ENST00000509539	.	.	.	5.65	4.61	0.57282	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.4798	11.3076	0.49345	0.5398:0.4602:0.0:0.0	.	.	.	.	X	361;323;133	.	ENSP00000327308:R323X	R	+	1	2	MCCC2	70975410	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.808000	0.47963	1.163000	0.42636	0.650000	0.86243	CGA	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369243.4		+	ENST00000340941.6	Nonsense_Mutation	SNP	5 : 70939654 - 70939654 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	751	131
KRTAP10-12	386685	broad.mit.edu	37	21	46117425	46117425	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46117425C>A	ENST00000400365.3	+	1	339	c.309C>A	c.(307-309)gcC>gcA	p.A103A	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	103	19 X 5 AA repeats of C-C-X(3).					keratin filament		p.A103A(1)		large_intestine(1)|lung(8)	9						GCCAGCAGGCCTGCTGCGTGC	0.647		NA												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)											76	81	79			NA	NA	21		NA											NA				46117425		2203	4297	6500	SO:0001819	synonymous_variant			AB076364	CCDS42967.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000189169	ENSG00000189169	386685	386685		Keratin associated proteins	20533	protein-coding gene	gene with protein product			keratin associated protein 18-12	KRTAP18-12	NA		Standard	NM_198699	NM_198699	NA	Approved	KRTAP18.12, KAP10.12	uc002zfw.1	P60413	OTTHUMG00000057629	ENST00000400365.3:c.309C>A	21.37:g.46117425C>A		NA	B2RPA3	37	CCDS42967.1																																																																																			KRTAP10-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128032.1		+	ENST00000400365.3	Silent	SNP	21 : 46117425 - 46117425 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1141	137
HAP1	9001	broad.mit.edu	37	17	39881248	39881248	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39881248G>T	ENST00000393939.2	-	10	1499	c.1490C>A	c.(1489-1491)gCt>gAt	p.A497D	HAP1_ENST00000347901.4_Missense_Mutation_p.A522D|HAP1_ENST00000341193.5_Missense_Mutation_p.A505D|JUP_ENST00000540235.1_Intron|HAP1_ENST00000310778.5_Missense_Mutation_p.A574D			P54257	HAP1_HUMAN	huntingtin-associated protein 1	557	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding	p.A522G(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CCCTTCCTCAGCCGGCACCTT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	ovary(1)											236	228	231			NA	NA	17		NA											NA				39881248		2203	4300	6503	SO:0001583	missense			AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805	9001	9001			4812	protein-coding gene	gene with protein product	neuroan 1	600947		HAP2	NA	7477378, 9668110	Standard	NM_003949	NM_177977	NA	Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000393939.2:c.1490C>A	17.37:g.39881248G>T	ENSP00000377513:p.Ala497Asp	NA	A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	37	CCDS42339.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.153146	0.57259	.	.	ENSG00000173805	ENST00000458656;ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T;T	0.38560	1.13;2.9;3.19;3.01;2.91	4.14	3.13	0.36017	.	0.370487	0.19922	N	0.103074	T	0.45175	0.1329	L	0.29908	0.895	0.09310	N	1	D;D;D;D	0.63046	0.992;0.992;0.98;0.965	P;P;P;P	0.58391	0.838;0.774;0.745;0.561	T	0.28713	-1.0035	10	0.87932	D	0	-0.869	10.9717	0.47442	0.0:0.0:0.8117:0.1883	.	497;505;522;574	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	D	29;497;574;522;505	ENSP00000404640:A29D;ENSP00000377513:A497D;ENSP00000309392:A574D;ENSP00000334002:A522D;ENSP00000343170:A505D	ENSP00000309392:A574D	A	-	2	0	HAP1	37134774	0.021000	0.18746	0.002000	0.10522	0.019000	0.09904	2.406000	0.44557	1.041000	0.40125	0.511000	0.50034	GCT	HAP1-007	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389618.1		-	ENST00000393939.2	Missense_Mutation	SNP	17 : 39881248 - 39881248 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2299	105
GPBAR1	151306	broad.mit.edu	37	2	219127826	219127826	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219127826G>A	ENST00000522678.1	+	2	1247	c.379G>A	c.(379-381)Gcc>Acc	p.A127T	GPBAR1_ENST00000479077.1_Missense_Mutation_p.A127T|GPBAR1_ENST00000519574.1_Missense_Mutation_p.A127T|GPBAR1_ENST00000521462.1_Missense_Mutation_p.A127T	NM_001077191.1	NP_001070659.1	Q8TDU6	GPBAR_HUMAN	G protein-coupled bile acid receptor 1	127						integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATTCGGCTGGCCCTGCTCCT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	56	54			NA	NA	2		NA											NA				219127826		2107	4221	6328	SO:0001583	missense			AB086170	CCDS46515.1	2q35	2012-08-08			ENSG00000179921	ENSG00000179921	151306	151306			19680	protein-coding gene	gene with protein product		610147			NA	12419312	Standard	NM_001077191	NM_170699	NA	Approved	BG37, GPCR, TGR5, M-BAR, GPCR19, GPR131, MGC40597	uc010zjw.1	Q8TDU6	OTTHUMG00000155203	ENST00000522678.1:c.379G>A	2.37:g.219127826G>A	ENSP00000430886:p.Ala127Thr	NA		37	CCDS46515.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204822	0.79127	.	.	ENSG00000179921	ENST00000479077;ENST00000522678;ENST00000519574;ENST00000521462	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.075787	0.51477	U	0.000084	T	0.50939	0.1645	L	0.59436	1.845	0.38707	D	0.953116	D	0.61080	0.989	D	0.64595	0.927	T	0.44711	-0.9310	10	0.26408	T	0.33	-8.689	12.6101	0.56546	0.0:0.0:0.8341:0.1659	.	127	Q8TDU6	GPBAR_HUMAN	T	127	ENSP00000430698:A127T;ENSP00000430886:A127T;ENSP00000430202:A127T;ENSP00000428824:A127T	ENSP00000430698:A127T	A	+	1	0	GPBAR1	218836070	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.381000	0.52455	2.677000	0.91161	0.561000	0.74099	GCC	GPBAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000338767.3		+	ENST00000522678.1	Missense_Mutation	SNP	2 : 219127826 - 219127826 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	372	107
RGS14	10636	broad.mit.edu	37	5	176785034	176785034	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176785034G>T	ENST00000408923.3	+	1	197	c.9G>T	c.(7-9)ggG>ggT	p.G3G		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	3					chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCATGCCAGGGAAGCCCAAGC	0.751		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(47;353 1896 28036)							NA				0													6	9	8			NA	NA	5		NA											NA				176785034		1816	4007	5823	SO:0001819	synonymous_variant			AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220	10636	10636		Regulators of G-protein signaling	9996	protein-coding gene	gene with protein product		602513	regulator of G-protein signalling 14		NA		Standard	NM_006480	NM_006480	NA	Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.9G>T	5.37:g.176785034G>T		NA	O43565|Q506M1|Q6ZWA4|Q8TD62	37	CCDS43405.1																																																																																			RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372676.1		+	ENST00000408923.3	Silent	SNP	5 : 176785034 - 176785034 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	84	13
PKP2	5318	broad.mit.edu	37	12	33031179	33031179	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:33031179C>T	ENST00000340811.4	-	3	743	c.635G>A	c.(634-636)cGc>cAc	p.R212H	PKP2_ENST00000070846.6_Missense_Mutation_p.R212H	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	212					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GTCAAAGTGGCGCTGCCTGCT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	117	124			NA	NA	12		NA											NA				33031179		2203	4300	6503	SO:0001583	missense			X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294	5318	5318		Armadillo repeat containing	9024	protein-coding gene	gene with protein product		602861			NA	8922383	Standard	NM_004572	NM_001005242	NA	Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000340811.4:c.635G>A	12.37:g.33031179C>T	ENSP00000342800:p.Arg212His	NA	D3DUW9|Q4VC01|Q99960	37	CCDS31771.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.798607	0.50208	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	D;D	0.81996	-1.56;-1.55	5.34	2.29	0.28610	.	1.149450	0.06307	N	0.701990	T	0.78020	0.4218	L	0.46157	1.445	0.09310	N	1	P;P;P	0.52316	0.951;0.918;0.952	B;B;B	0.43052	0.31;0.164;0.406	T	0.66889	-0.5809	10	0.45353	T	0.12	-7.5805	5.7619	0.18205	0.0:0.6201:0.1447:0.2352	.	212;212;212	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	H	212	ENSP00000342800:R212H;ENSP00000070846:R212H	ENSP00000070846:R212H	R	-	2	0	PKP2	32922446	0.958000	0.32768	0.860000	0.33809	0.943000	0.58893	0.783000	0.26802	1.272000	0.44329	0.650000	0.86243	CGC	PKP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404448.2		-	ENST00000340811.4	Missense_Mutation	SNP	12 : 33031179 - 33031179 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	410	70
KIAA0586	9786	broad.mit.edu	37	14	58949251	58949251	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58949251G>A	ENST00000423743.3	+	22	3091	c.2833G>A	c.(2833-2835)Gcc>Acc	p.A945T	KIAA0586_ENST00000261244.5_Missense_Mutation_p.A913T|KIAA0586_ENST00000556134.1_Missense_Mutation_p.A974T|KIAA0586_ENST00000354386.6_Missense_Mutation_p.A1042T|KIAA0586_ENST00000538571.2_3'UTR	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	913										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAGCAGTGGCGCCCTCCAGCT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	46	47			NA	NA	14		NA											NA				58949251		1850	4102	5952	SO:0001583	missense			AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578	9786	9786			19960	protein-coding gene	gene with protein product		610178			NA	16702409	Standard	NM_014749	NM_014749	NA	Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000423743.3:c.2833G>A	14.37:g.58949251G>A	ENSP00000399427:p.Ala945Thr	NA		37	CCDS58322.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.643865	0.29246	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244;ENST00000546216	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.9	1.72	0.24424	.	0.835333	0.10542	N	0.662544	T	0.38878	0.1057	M	0.72479	2.2	0.09310	N	1	B;B;B;B;B;B	0.32203	0.066;0.066;0.017;0.004;0.116;0.36	B;B;B;B;B;B	0.17722	0.007;0.013;0.003;0.002;0.013;0.019	T	0.16305	-1.0407	10	0.40728	T	0.16	.	11.0398	0.47825	0.272:0.0:0.728:0.0	.	849;849;1042;913;974;945	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	T	1042;974;945;913;849	ENSP00000346359:A1042T;ENSP00000452351:A974T;ENSP00000399427:A945T;ENSP00000261244:A913T	ENSP00000261244:A913T	A	+	1	0	KIAA0586	58019004	1.000000	0.71417	0.016000	0.15963	0.200000	0.23975	2.792000	0.47837	0.323000	0.23307	-0.792000	0.03331	GCC	KIAA0586-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411988.2		+	ENST00000423743.3	Missense_Mutation	SNP	14 : 58949251 - 58949251 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	154	26
PTPRH	5794	broad.mit.edu	37	19	55708507	55708507	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55708507C>T	ENST00000376350.3	-	9	1990	c.1968G>A	c.(1966-1968)acG>acA	p.T656T	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Silent_p.T478T	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	656	Fibronectin type-III 7.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		AGAGGCTCTGCGTGGAACTGG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	96	105			NA	NA	19		NA											NA				55708507		2203	4300	6503	SO:0001819	synonymous_variant				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031	5794	5794		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing	9672	protein-coding gene	gene with protein product		602510			NA	8294459	Standard		XM_006723312	NA	Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1968G>A	19.37:g.55708507C>T		NA	Q15426|Q2NKN9|Q2NKP0	37	CCDS33110.1																																																																																			PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452649.1		-	ENST00000376350.3	Silent	SNP	19 : 55708507 - 55708507 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	220	38
IRF1	3659	broad.mit.edu	37	5	131820175	131820175	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131820175C>T	ENST00000245414.4	-	9	990	c.732G>A	c.(730-732)tcG>tcA	p.S244S	IRF1_ENST00000405885.2_Silent_p.S244S	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	244					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		GCTGCCACTCCGACTGCTCCA	0.567		NA											C	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	2e-04	NA	NA	NA	5e-04	0.9547	EXOME	NA	NA	5e-04	SNP								NA				0													115	114	114			NA	NA	5		NA											NA				131820175		2203	4300	6503	SO:0001819	synonymous_variant				CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347	3659	3659			6116	protein-coding gene	gene with protein product	interferon regulatory factor-1	147575			NA	2726461, 1680796	Standard	NM_002198	NM_002198	NA	Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.732G>A	5.37:g.131820175C>T		NA	Q96GG7	37	CCDS4155.1																																																																																			IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132340.1		-	ENST00000245414.4	Silent	SNP	5 : 131820175 - 131820175 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	709	110
SLC7A9	11136	broad.mit.edu	37	19	33355586	33355586	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33355586C>T	ENST00000023064.4	-	3	375	c.184G>A	c.(184-186)Gtg>Atg	p.V62M	SLC7A9_ENST00000587772.1_Missense_Mutation_p.V62M|SLC7A9_ENST00000590341.1_Missense_Mutation_p.V62M	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	62					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CAGGGCCCCACAGCTTCCGTG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(181;1335 2108 9644 44178 46689)							NA				0			GRCh37	CM050099	SLC7A9	M							125	117	120			NA	NA	19		NA											NA				33355586		2203	4300	6503	SO:0001583	missense			AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488	11136	11136		Solute carriers	11067	protein-coding gene	gene with protein product		604144		CSNU3	NA	10471498	Standard		NM_014270	NA	Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.184G>A	19.37:g.33355586C>T	ENSP00000023064:p.Val62Met	NA	B2R9A6	37	CCDS12425.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196535	0.79015	.	.	ENSG00000021488	ENST00000023064	D	0.90504	-2.68	5.13	5.13	0.70059	Amino acid permease domain (1);	0.055402	0.64402	D	0.000001	D	0.96024	0.8705	H	0.94264	3.515	0.80722	D	1	D	0.65815	0.995	D	0.64877	0.93	D	0.96517	0.9383	10	0.72032	D	0.01	.	12.3425	0.55101	0.0:0.922:0.0:0.078	.	62	P82251	BAT1_HUMAN	M	62	ENSP00000023064:V62M	ENSP00000023064:V62M	V	-	1	0	SLC7A9	38047426	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	6.091000	0.71406	2.565000	0.86533	0.462000	0.41574	GTG	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450585.1		-	ENST00000023064.4	Missense_Mutation	SNP	19 : 33355586 - 33355586 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	861	156
AP4E1	23431	broad.mit.edu	37	15	51223034	51223034	+	Silent	SNP	G	G	A	rs146147470	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51223034G>A	ENST00000261842.5	+	7	841	c.735G>A	c.(733-735)ggG>ggA	p.G245G	AP4E1_ENST00000560508.1_Silent_p.G170G	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	245					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		ACTTGACTGGGAGTTTTGTAA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		7,4385	12.9+/-30.5	0,7,2189	92	94	93		735	0.4	1	15	dbSNP_134	93	0,8588		0,0,4294	no	coding-synonymous	AP4E1	NM_007347.3		0,7,6483	AA,AG,GG	NA	0.0,0.1594,0.0539		245/1138	51223034	7,12973	2196	4294	6490	SO:0001819	synonymous_variant			AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014	23431	23431			573	protein-coding gene	gene with protein product		607244			NA	10436028, 21620353	Standard		NM_007347	NA	Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.735G>A	15.37:g.51223034G>A		NA	A0AVD6|A1L4A9|A6NNX7|Q9Y588	37	CCDS32240.1																																																																																			AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418656.1		+	ENST00000261842.5	Silent	SNP	15 : 51223034 - 51223034 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	580	93
CUL9	23113	broad.mit.edu	37	6	43152468	43152468	+	Silent	SNP	C	C	T	rs146357794		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43152468C>T	ENST00000372647.2	+	2	494	c.420C>T	c.(418-420)gcC>gcT	p.A140A	CUL9_ENST00000252050.4_Silent_p.A140A|CUL9_ENST00000354495.3_Silent_p.A140A			Q8IWT3	CUL9_HUMAN	cullin 9	140					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GCCTCACGGCCGCTGTGCTTC	0.627		NA											C	1	5e-04	NA	0.0028	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9135	EXOME	NA	NA	7e-04	SNP								NA				0								C		0,4406		0,0,2203	66	66	66		420	-3.6	0.8	6	dbSNP_134	66	3,8597	1.2+/-3.3	0,3,4297	no	coding-synonymous	CUL9	NM_015089.2		0,3,6500	TT,TC,CC	NA	0.0349,0.0,0.0231		140/2518	43152468	3,13003	2203	4300	6503	SO:0001819	synonymous_variant			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659	23113	23113			15982	protein-coding gene	gene with protein product	parkin-like cytoplasmic p53 binding protein, p53-associated parkin-like cytoplasmic protein	607489			NA	17332328, 10521492, 12526791	Standard	NM_015089	NM_015089	NA	Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000372647.2:c.420C>T	6.37:g.43152468C>T		NA	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	37																																																																																				CUL9-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000358329.1		+	ENST00000372647.2	Silent	SNP	6 : 43152468 - 43152468 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	583	100
OR4X1	390113	broad.mit.edu	37	11	48286112	48286112	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48286112G>A	ENST00000320048.1	+	1	700	c.700G>A	c.(700-702)Gcc>Acc	p.A234T		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						GCAGCACAAGGCCCTCTCCAC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	116	121			NA	NA	11		NA											NA				48286112		2201	4298	6499	SO:0001583	missense			AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567	390113	390113		GPCR / Class A : Olfactory receptors	14854	protein-coding gene	gene with protein product			olfactory receptor, family 4, subfamily X, member 1		NA		Standard	NM_001004726	NM_001004726	NA	Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.700G>A	11.37:g.48286112G>A	ENSP00000321506:p.Ala234Thr	NA	Q6IF74	37	CCDS31487.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.392031	0.42410	.	.	ENSG00000176567	ENST00000320048	T	0.00357	7.89	4.5	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00724	0.0024	M	0.73753	2.245	0.24716	N	0.993173	D	0.89917	1.0	D	0.97110	1.0	T	0.47935	-0.9078	9	0.72032	D	0.01	.	10.774	0.46340	0.0941:0.0:0.9059:0.0	.	234	Q8NH49	OR4X1_HUMAN	T	234	ENSP00000321506:A234T	ENSP00000321506:A234T	A	+	1	0	OR4X1	48242688	1.000000	0.71417	0.362000	0.25862	0.001000	0.01503	3.712000	0.54875	1.240000	0.43803	-0.244000	0.11960	GCC	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383373.1		+	ENST00000320048.1	Missense_Mutation	SNP	11 : 48286112 - 48286112 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	528	96
DIP2C	22982	broad.mit.edu	37	10	410494	410494	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:410494G>A	ENST00000280886.6	-	20	2384	c.2297C>T	c.(2296-2298)cCg>cTg	p.P766L	DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Missense_Mutation_p.P87L	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	766						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TTCACTGATCGGAGCCCCGGA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	50	51			NA	NA	10		NA											NA				410494		2203	4300	6503	SO:0001583	missense			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240	22982	22982			29150	protein-coding gene	gene with protein product		611380	KIAA0934	KIAA0934	NA		Standard	NM_014974	NM_014974	NA	Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.2297C>T	10.37:g.410494G>A	ENSP00000280886:p.Pro766Leu	NA	Q5SS78	37	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.961449	0.34565	.	.	ENSG00000151240	ENST00000280886;ENST00000540204	T;T	0.52295	1.62;0.67	5.31	5.31	0.75309	AMP-dependent synthetase/ligase (1);	0.055424	0.64402	D	0.000001	T	0.51856	0.1699	M	0.63843	1.955	0.80722	D	1	B;B	0.30973	0.302;0.034	B;B	0.34180	0.177;0.072	T	0.54132	-0.8339	10	0.54805	T	0.06	-22.1795	18.9703	0.92712	0.0:0.0:1.0:0.0	.	87;766	B4DPI5;Q9Y2E4	.;DIP2C_HUMAN	L	766;87	ENSP00000280886:P766L;ENSP00000443826:P87L	ENSP00000280886:P766L	P	-	2	0	DIP2C	400494	1.000000	0.71417	0.891000	0.34965	0.035000	0.12851	6.746000	0.74866	2.484000	0.83849	0.484000	0.47621	CCG	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046389.1		-	ENST00000280886.6	Missense_Mutation	SNP	10 : 410494 - 410494 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	332	54
DAAM1	23002	broad.mit.edu	37	14	59730276	59730276	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59730276G>A	ENST00000395125.1	+	1	104	c.81G>A	c.(79-81)acG>acA	p.T27T	DAAM1_ENST00000351081.1_Silent_p.T27T|DAAM1_ENST00000360909.3_Silent_p.T27T|DAAM1_ENST00000556135.1_Silent_p.T27T	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	27					actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CAGAAATCACGTATCGGCTGC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	127	133			NA	NA	14		NA											NA				59730276		2203	4300	6503	SO:0001819	synonymous_variant			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592	23002	23002			18142	protein-coding gene	gene with protein product		606626			NA	11779461, 18162551	Standard	NM_014992	NM_014992	NA	Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.81G>A	14.37:g.59730276G>A		NA	Q86U34|Q8N1Z8|Q8TB39	37	CCDS9737.1																																																																																			DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276942.2		+	ENST00000395125.1	Silent	SNP	14 : 59730276 - 59730276 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	565	103
ASGR1	432	broad.mit.edu	37	17	7080161	7080161	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7080161C>T	ENST00000574388.1	-	3	1018	c.226G>A	c.(226-228)Gac>Aac	p.D76N	ASGR1_ENST00000380920.4_Missense_Mutation_p.D14N|ASGR1_ENST00000269299.3_Missense_Mutation_p.D115N|ASGR1_ENST00000572879.1_Intron			P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	115					receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						TCACTCAGGTCCTTCTGCTGT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													207	174	185			NA	NA	17		NA											NA				7080161		2203	4300	6503	SO:0001583	missense				CCDS11089.1, CCDS56017.1	17p13-p11	2011-08-30			ENSG00000141505	ENSG00000141505	432	432		C-type lectin domain containing	742	protein-coding gene	gene with protein product		108360			NA		Standard	NM_001671	NM_001671	NA	Approved	CLEC4H1	uc002ges.4	P07306	OTTHUMG00000102159	ENST00000574388.1:c.226G>A	17.37:g.7080161C>T	ENSP00000459169:p.Asp76Asn	NA		37	CCDS56017.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.760776	0.31137	.	.	ENSG00000141505	ENST00000269299;ENST00000380920	T;T	0.43294	1.0;0.95	4.89	1.23	0.21249	Hepatic lectin, N-terminal (1);	0.961393	0.08593	N	0.922639	T	0.35770	0.0943	M	0.62723	1.935	0.20196	N	0.99993	B	0.31625	0.332	B	0.27380	0.079	T	0.37033	-0.9723	10	0.66056	D	0.02	.	3.4939	0.07648	0.2051:0.544:0.0:0.2508	.	115	P07306	ASGR1_HUMAN	N	115;76	ENSP00000269299:D115N;ENSP00000370307:D76N	ENSP00000269299:D115N	D	-	1	0	ASGR1	7020885	0.237000	0.23815	0.075000	0.20258	0.470000	0.32858	0.841000	0.27613	0.167000	0.19631	0.462000	0.41574	GAC	ASGR1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000439997.2		-	ENST00000574388.1	Missense_Mutation	SNP	17 : 7080161 - 7080161 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	625	35
SLX4IP	128710	broad.mit.edu	37	20	10582383	10582383	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:10582383C>A	ENST00000334534.5	+	6	501	c.321C>A	c.(319-321)ctC>ctA	p.L107L		NM_001009608.1	NP_001009608.1			SLX4 interacting protein	NA											NA						ATACAGAACTCTGTGTATTCC	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	109	113			NA	NA	20		NA											NA				10582383		2203	4300	6503	SO:0001819	synonymous_variant			AL035456	CCDS33439.1	20p12	2012-10-30	2012-10-30	2012-10-30	ENSG00000149346	ENSG00000149346	128710	128710			16225	protein-coding gene	gene with protein product		615958	chromosome 20 open reading frame 94	C20orf94	NA	19596235	Standard	NM_001009608	XM_005260664	NA	Approved	dJ1099D15.3	uc010zre.2	Q5VYV7	OTTHUMG00000031873	ENST00000334534.5:c.321C>A	20.37:g.10582383C>A		NA		37	CCDS33439.1																																																																																			SLX4IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078000.3		+	ENST00000334534.5	Silent	SNP	20 : 10582383 - 10582383 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	275	36
MYH3	4621	broad.mit.edu	37	17	10547728	10547728	+	Silent	SNP	C	C	T	rs141874357		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10547728C>T	ENST00000583535.1	-	14	1437	c.1350G>A	c.(1348-1350)acG>acA	p.T450T	MYH3_ENST00000226209.7_Silent_p.T450T	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	450	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTGGAAGCTTCGTATCCAGTT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		4,4402	9.9+/-24.2	0,4,2199	138	134	135		1350	-9	0.2	17	dbSNP_134	135	0,8600		0,0,4300	no	coding-synonymous	MYH3	NM_002470.3		0,4,6499	TT,TC,CC	NA	0.0,0.0908,0.0308		450/1941	10547728	4,13002	2203	4300	6503	SO:0001819	synonymous_variant				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063	4621	4621		Myosins / Myosin superfamily : Class II	7573	protein-coding gene	gene with protein product	myosin, skeletal, heavy chain, embryonic 1, muscle embryonic myosin heavy chain 3	160720	myosin, heavy polypeptide 3, skeletal muscle, embryonic		NA	2726495	Standard	NM_002470	NM_002470	NA	Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.1350G>A	17.37:g.10547728C>T		NA	Q15492	37	CCDS11157.1																																																																																			MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252734.2		-	ENST00000583535.1	Silent	SNP	17 : 10547728 - 10547728 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	512	19
DIP2A	23181	broad.mit.edu	37	21	47931370	47931370	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47931370C>T	ENST00000400274.1	+	8	1166	c.933C>T	c.(931-933)agC>agT	p.S311S	DIP2A_ENST00000457905.3_Silent_p.S315S|DIP2A_ENST00000466639.1_Silent_p.S272S|DIP2A_ENST00000427143.2_Silent_p.S251S|DIP2A_ENST00000417564.2_Silent_p.S315S|DIP2A_ENST00000435722.3_Silent_p.S315S|DIP2A_ENST00000318711.7_Silent_p.S316S			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	315					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CTGAGGGAAGCGAGACGAGTG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	35	34			NA	NA	21		NA											NA				47931370		1972	4155	6127	SO:0001819	synonymous_variant			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305	23181	23181			17217	protein-coding gene	gene with protein product		607711	chromosome 21 open reading frame 106	C21orf106	NA		Standard	NM_015151	NM_015151	NA	Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000400274.1:c.933C>T	21.37:g.47931370C>T		NA	A6P4T3|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	37	CCDS54490.1																																																																																			DIP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207431.1		+	ENST00000400274.1	Silent	SNP	21 : 47931370 - 47931370 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	107	13
ZNF598	90850	broad.mit.edu	37	16	2048485	2048485	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2048485C>T	ENST00000563630.1	-	12	2540	c.2298G>A	c.(2296-2298)acG>acA	p.T766T	ZNF598_ENST00000562103.1_Silent_p.T766T|ZNF598_ENST00000431526.1_Silent_p.T821T			Q86UK7	ZN598_HUMAN	zinc finger protein 598	821						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GCTGCTTGGCCGTGTCGGGCA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	32	31			NA	NA	16		NA											NA				2048485		1905	4128	6033	SO:0001819	synonymous_variant			BC029270		16p13.3	2008-05-02				ENSG00000167962	90850	90850		Zinc fingers, C2H2-type	28079	protein-coding gene	gene with protein product					NA		Standard	NM_178167	NM_178167	NA	Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.2298G>A	16.37:g.2048485C>T		NA	Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	37																																																																																				ZNF598-001	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000434439.1		-	ENST00000563630.1	Silent	SNP	16 : 2048485 - 2048485 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	309	68
SHISA3	152573	broad.mit.edu	37	4	42403028	42403028	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42403028G>T	ENST00000319234.4	+	2	495		c.e2-1			NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	NA					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						TTGCCTTTTAGAGCCTGTCTA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	179	179			NA	NA	4		NA											NA				42403028		2203	4300	6503	SO:0001630	splice_region_variant			BC012029	CCDS33979.1	4p13	2013-07-31	2013-07-31		ENSG00000178343	ENSG00000178343	152573	152573		Shisa homologs	25159	protein-coding gene	gene with protein product			shisa homolog 3 (Xenopus laevis)		NA		Standard	NM_001080505	NM_001080505	NA	Approved	hShisa3	uc003gwp.3	A0PJX4	OTTHUMG00000161043	ENST00000319234.4:c.278-1G>T	4.37:g.42403028G>T		NA	A0PJX3|Q96EQ5	37	CCDS33979.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980950	0.74474	.	.	ENSG00000178343	ENST00000319234	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9622	0.89089	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SHISA3	42097785	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	9.657000	0.98554	2.582000	0.87167	0.655000	0.94253	.	SHISA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363539.1	Intron	+	ENST00000319234.4	Splice_Site	SNP	4 : 42403028 - 42403028 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	869	160
MYO1A	4640	broad.mit.edu	37	12	57432600	57432600	+	Missense_Mutation	SNP	G	G	A	rs141039063		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57432600G>A	ENST00000442789.2	-	17	1813	c.1526C>T	c.(1525-1527)gCg>gTg	p.A509V	MYO1A_ENST00000300119.3_Missense_Mutation_p.A509V|MYO1A_ENST00000476795.1_5'UTR|MYO1A_ENST00000544473.1_Missense_Mutation_p.A347V	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	509	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CACCTTGCCCGCATAGTGGCA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	55	52	53		1526	4.6	1	12	dbSNP_134	53	0,8600		0,0,4300	no	missense	MYO1A	NM_005379.2	64	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging	509/1044	57432600	1,13005	2203	4300	6503	SO:0001583	missense			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866	4640	4640		Myosins / Myosin superfamily : Class I	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48	NA	8884266, 12736868	Standard	NM_005379	NM_001256041	NA	Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.1526C>T	12.37:g.57432600G>A	ENSP00000393392:p.Ala509Val	NA	Q9UQD7	37	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972551	0.92919	2.27E-4	0.0	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	D;D;D	0.93426	-3.22;-3.22;-3.22	4.55	4.55	0.56014	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.97885	0.9305	H	0.97465	4.01	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98850	1.0758	10	0.87932	D	0	.	15.2089	0.73202	0.0:0.0:1.0:0.0	.	509	Q9UBC5	MYO1A_HUMAN	V	509;509;347	ENSP00000300119:A509V;ENSP00000393392:A509V;ENSP00000440514:A347V	ENSP00000300119:A509V	A	-	2	0	MYO1A	55718867	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.657000	0.98554	2.542000	0.85734	0.555000	0.69702	GCG	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313833.2		-	ENST00000442789.2	Missense_Mutation	SNP	12 : 57432600 - 57432600 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	216	42
COPG1	22820	broad.mit.edu	37	3	128991698	128991698	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128991698A>C	ENST00000314797.6	+	21	2311	c.2207A>C	c.(2206-2208)gAt>gCt	p.D736A		NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	736	Interaction with ZNF289/ARFGAP2.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity				NA						AAGGACTGTGATCCCACCACT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													199	166	177			NA	NA	3		NA											NA				128991698		2203	4300	6503	SO:0001583	missense			AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789	22820	22820			2236	protein-coding gene	gene with protein product	coat protein gamma-cop	615525	coatomer protein complex, subunit gamma	COPG	NA	11056392	Standard	NM_016128	NM_016128	NA	Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.2207A>C	3.37:g.128991698A>C	ENSP00000325002:p.Asp736Ala	NA	A8K6M8|B3KMF6|Q54AC4	37	CCDS33851.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	26.1|26.1	4.709643|4.709643	0.89018|0.89018	.|.	.|.	ENSG00000181789|ENSG00000181789	ENST00000314797|ENST00000509889	T|.	0.41758|.	0.99|.	5.91|5.91	5.91|5.91	0.95273|0.95273	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Coatomer, gamma subunit , appendage (1);Coatomer, gamma subunit, appendage, Ig-like subdomain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84133|0.84133	0.5405|0.5405	M|M	0.91663|0.91663	3.23|3.23	0.80722|0.80722	D|D	1|1	D|.	0.62365|.	0.991|.	D|.	0.66716|.	0.946|.	D|D	0.87590|0.87590	0.2490|0.2490	10|5	0.87932|.	D|.	0|.	-6.2992|-6.2992	14.3007|14.3007	0.66346|0.66346	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	736|.	Q9Y678|.	COPG_HUMAN|.	A|L	736|50	ENSP00000325002:D736A|.	ENSP00000325002:D736A|.	D|I	+|+	2|1	0|0	COPG|COPG	130474388|130474388	1.000000|1.000000	0.71417|0.71417	0.932000|0.932000	0.37286|0.37286	0.897000|0.897000	0.52465|0.52465	9.136000|9.136000	0.94489|0.94489	2.259000|2.259000	0.74868|0.74868	0.528000|0.528000	0.53228|0.53228	GAT|ATC	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355456.1		+	ENST00000314797.6	Missense_Mutation	SNP	3 : 128991698 - 128991698 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	215	28
BLNK	29760	broad.mit.edu	37	10	97967627	97967627	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97967627C>T	ENST00000224337.5	-	10	916		c.e10+1		BLNK_ENST00000427367.2_Splice_Site|BLNK_ENST00000413476.2_Splice_Site|BLNK_ENST00000371176.2_Splice_Site	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	NA					B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		AATTAACTTACTGTCTTCAGT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	116	117			NA	NA	10		NA											NA				97967627		2203	4300	6503	SO:0001630	splice_region_variant			AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585	29760	29760		SH2 domain containing	14211	protein-coding gene	gene with protein product	B-cell adapter containing a SH2 domain protein, B-cell activation, Src homology [SH2] domain-containing leukocyte protein of 65 kD, B cell adaptor containing SH2 domain	604515			NA	9697839, 10583958	Standard	NM_013314	NM_013314	NA	Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.774+1G>A	10.37:g.97967627C>T		NA	O75498|O75499	37	CCDS7446.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743713	0.69418	.	.	ENSG00000095585	ENST00000224337;ENST00000371176;ENST00000427367;ENST00000413476;ENST00000537049	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4791	0.75511	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BLNK	97957617	0.998000	0.40836	0.973000	0.42090	0.936000	0.57629	3.494000	0.53273	2.809000	0.96659	0.655000	0.94253	.	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049593.1	Intron	-	ENST00000224337.5	Splice_Site	SNP	10 : 97967627 - 97967627 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	400	72
BRSK1	84446	broad.mit.edu	37	19	55805718	55805718	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55805718C>T	ENST00000309383.1	+	7	908	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	BRSK1_ENST00000585418.1_Missense_Mutation_p.R211W|BRSK1_ENST00000590333.1_Missense_Mutation_p.R227W	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	211	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TGATGGCCGCCGGGCAGACAT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	82	82			NA	NA	19		NA											NA				55805718		2203	4300	6503	SO:0001583	missense			AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469	84446	84446			18994	protein-coding gene	gene with protein product		609235			NA	14976552	Standard	NM_032430	NM_032430	NA	Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.631C>T	19.37:g.55805718C>T	ENSP00000310649:p.Arg211Trp	NA	F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	37	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	20.8	4.050648	0.75960	.	.	ENSG00000160469	ENST00000309383	T	0.26223	1.75	4.79	2.43	0.29744	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.41811	0.1175	L	0.49699	1.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.972	T	0.39035	-0.9633	10	0.87932	D	0	.	12.2446	0.54563	0.3075:0.6925:0.0:0.0	.	211;227	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	W	211	ENSP00000310649:R211W	ENSP00000310649:R211W	R	+	1	2	BRSK1	60497530	0.966000	0.33281	1.000000	0.80357	0.967000	0.64934	0.456000	0.21859	1.117000	0.41842	0.561000	0.74099	CGG	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452787.1		+	ENST00000309383.1	Missense_Mutation	SNP	19 : 55805718 - 55805718 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	50
CAMTA2	23125	broad.mit.edu	37	17	4877048	4877048	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4877048G>T	ENST00000572543.1	-	13	2160	c.2048C>A	c.(2047-2049)cCt>cAt	p.P683H	CAMTA2_ENST00000361571.5_Missense_Mutation_p.P677H|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000358183.4_Missense_Mutation_p.P678H|CAMTA2_ENST00000348066.3_Missense_Mutation_p.P678H|CAMTA2_ENST00000381311.5_Missense_Mutation_p.P680H|CAMTA2_ENST00000414043.3_Missense_Mutation_p.P701H			O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	678					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TTCGAACCCAGGCCCCTGGCC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	65	67			NA	NA	17		NA											NA				4877048		2203	4300	6503	SO:0001583	missense			AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509	23125	23125			18807	protein-coding gene	gene with protein product		611508			NA	11925432	Standard	NM_015099	NM_015099	NA	Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000572543.1:c.2048C>A	17.37:g.4877048G>T	ENSP00000460779:p.Pro683His	NA	B9EGL0|D3DTL5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	37		.	.	.	.	.	.	.	.	.	.	G	18.17	3.564895	0.65651	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.32515	2.67;1.69;1.45;1.69;1.46	4.85	4.85	0.62838	.	0.073877	0.56097	D	0.000029	T	0.30634	0.0771	N	0.12182	0.205	0.41702	D	0.989407	B;B;D;D;D	0.61697	0.016;0.029;0.99;0.983;0.986	B;B;P;P;P	0.57620	0.011;0.017;0.824;0.671;0.76	T	0.09357	-1.0678	10	0.44086	T	0.13	-14.7948	13.3308	0.60485	0.0:0.0:1.0:0.0	.	654;701;680;678;677	B7ZM30;E7EWU5;O94983-3;O94983;O94983-4	.;.;.;CMTA2_HUMAN;.	H	701;680;677;678;678	ENSP00000412886:P701H;ENSP00000370712:P680H;ENSP00000354828:P677H;ENSP00000350910:P678H;ENSP00000321813:P678H	ENSP00000321813:P678H	P	-	2	0	CAMTA2	4817772	0.998000	0.40836	0.440000	0.26846	0.951000	0.60555	1.941000	0.40233	2.528000	0.85240	0.655000	0.94253	CCT	CAMTA2-007	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000438757.1		-	ENST00000572543.1	Missense_Mutation	SNP	17 : 4877048 - 4877048 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	70
ZNF716	441234	broad.mit.edu	37	7	57529401	57529401	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:57529401G>T	ENST00000420713.1	+	4	1346	c.1234G>T	c.(1234-1236)Gaa>Taa	p.E412*		NM_001159279.1	NP_001152751.1			zinc finger protein 716	NA										breast(1)|kidney(1)|lung(20)|ovary(2)	24						CAAATGTGAAGAATGTGGCAA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	28	28			NA	NA	7		NA											NA				57529401		692	1591	2283	SO:0001587	stop_gained			AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111	441234	441234		Zinc fingers, C2H2-type, -	32458	protein-coding gene	gene with protein product					NA		Standard	NM_001159279	NM_001159279	NA	Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.1234G>T	7.37:g.57529401G>T	ENSP00000394248:p.Glu412*	NA		37	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659408	0.67586	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	.	.	.	0.195	0.195	0.15151	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	6.2336	0.20750	3.0E-4:0.0:0.9997:0.0	.	.	.	.	X	412;400	.	ENSP00000387687:E400X	E	+	1	0	ZNF716	57533343	0.000000	0.05858	0.358000	0.25811	0.360000	0.29518	-0.610000	0.05629	0.300000	0.22699	0.306000	0.20318	GAA	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345309.1		+	ENST00000420713.1	Nonsense_Mutation	SNP	7 : 57529401 - 57529401 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	249	26
ANKFY1	51479	broad.mit.edu	37	17	4085524	4085524	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4085524C>T	ENST00000341657.4	-	15	2108	c.2073G>A	c.(2071-2073)ccG>ccA	p.P691P	ANKFY1_ENST00000574367.1_Silent_p.P692P|CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000570535.1_Silent_p.P733P	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	691						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CAAGCCACAGCGGGGGGTTCC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	119	119			NA	NA	17		NA											NA				4085524		2012	4164	6176	SO:0001819	synonymous_variant			AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722	51479	51479		Zinc fingers, FYVE domain containing, BTB/POZ domain containing, Ankyrin repeat domain containing	20763	protein-coding gene	gene with protein product		607927			NA	10940552, 17273843	Standard	NM_016376	NM_016376	NA	Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.2073G>A	17.37:g.4085524C>T		NA	A8KA65|Q5RKV4|Q9ULG5	37																																																																																				ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000438702.1		-	ENST00000341657.4	Silent	SNP	17 : 4085524 - 4085524 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	827	163
MAP1LC3C	440738	broad.mit.edu	37	1	242159659	242159659	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242159659C>T	ENST00000357246.3	-	4	314	c.250G>A	c.(250-252)Gcc>Acc	p.A84T		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	84					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AAGTAAAAGGCTTCCGTGGCT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	132	139			NA	NA	1		NA											NA				242159659		2203	4300	6503	SO:0001583	missense			AF276659	CCDS31074.1	1q43	2014-02-12			ENSG00000197769	ENSG00000197769	440738	440738			13353	protein-coding gene	gene with protein product		609605			NA	12740394	Standard	NM_001004343	NM_001004343	NA	Approved	ATG8J	uc001hzk.2	Q9BXW4	OTTHUMG00000039865	ENST00000357246.3:c.250G>A	1.37:g.242159659C>T	ENSP00000349785:p.Ala84Thr	NA	A0PJY8|A2RUP0	37	CCDS31074.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.928828	0.73327	.	.	ENSG00000197769	ENST00000357246	T	0.59502	0.26	4.18	3.25	0.37280	.	0.000000	0.85682	D	0.000000	T	0.74023	0.3662	M	0.80982	2.52	0.53688	D	0.999971	B	0.30727	0.292	P	0.51516	0.672	T	0.77000	-0.2750	10	0.87932	D	0	.	13.1202	0.59321	0.1611:0.8389:0.0:0.0	.	84	Q9BXW4	MLP3C_HUMAN	T	84	ENSP00000349785:A84T	ENSP00000349785:A84T	A	-	1	0	MAP1LC3C	240226282	1.000000	0.71417	0.948000	0.38648	0.443000	0.32047	5.100000	0.64560	0.956000	0.37904	0.643000	0.83706	GCC	MAP1LC3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096185.1		-	ENST00000357246.3	Missense_Mutation	SNP	1 : 242159659 - 242159659 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	485	100
PLEKHH2	130271	broad.mit.edu	37	2	43924345	43924345	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43924345C>A	ENST00000282406.4	+	7	648	c.538C>A	c.(538-540)Cta>Ata	p.L180I		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	180						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGTCTCTACACTAAAGCTTTC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	137	137			NA	NA	2		NA											NA				43924345		2203	4300	6503	SO:0001583	missense			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527	130271	130271		Pleckstrin homology (PH) domain containing	30506	protein-coding gene	gene with protein product		612723			NA		Standard	NM_172069	NM_172069	NA	Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.538C>A	2.37:g.43924345C>A	ENSP00000282406:p.Leu180Ile	NA	Q5JPJ6|Q6P4Q1|Q8N3Q3	37	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	C	5.339	0.247779	0.10130	.	.	ENSG00000152527	ENST00000282406	T	0.52057	0.68	5.04	1.11	0.20524	.	0.772541	0.12600	N	0.454790	T	0.21881	0.0527	N	0.08118	0	0.09310	N	1	B;B	0.17038	0.001;0.02	B;B	0.18871	0.0;0.023	T	0.22521	-1.0214	10	0.18276	T	0.48	0.731	4.2415	0.10650	0.1307:0.6025:0.1261:0.1407	.	180;180	Q8IVE3;Q8IVE3-3	PKHH2_HUMAN;.	I	180	ENSP00000282406:L180I	ENSP00000282406:L180I	L	+	1	2	PLEKHH2	43777849	0.034000	0.19679	0.001000	0.08648	0.697000	0.40408	2.367000	0.44213	-0.083000	0.12618	-0.312000	0.09012	CTA	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250537.1		+	ENST00000282406.4	Missense_Mutation	SNP	2 : 43924345 - 43924345 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	841	82
EYA1	2138	broad.mit.edu	37	8	72184056	72184056	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72184056C>T	ENST00000340726.3	-	10	1542	c.903G>A	c.(901-903)ggG>ggA	p.G301G	EYA1_ENST00000388741.2_Silent_p.G267G|EYA1_ENST00000388742.4_Silent_p.G301G|EYA1_ENST00000388743.2_Silent_p.G300G|EYA1_ENST00000388740.3_Silent_p.G268G|EYA1_ENST00000303824.7_Silent_p.G295G|EYA1_ENST00000419131.1_Silent_p.G296G	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	301					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CACGTGATTTCCCATCTGAAC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													251	231	237			NA	NA	8		NA											NA				72184056		2203	4300	6503	SO:0001819	synonymous_variant			AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313	2138	2138		Protein tyrosine phosphatases / Asp-based PTPs	3519	protein-coding gene	gene with protein product		601653	eyes absent (Drosophila) homolog 1, eyes absent homolog 1 (Drosophila)	BOR	NA	9020840	Standard	NM_000503, NM_172060	XM_005251184	NA	Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.903G>A	8.37:g.72184056C>T		NA	A6NHQ0|Q0P516	37	CCDS34906.1																																																																																			EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313788.2		-	ENST00000340726.3	Silent	SNP	8 : 72184056 - 72184056 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1036	183
RASSF6	166824	broad.mit.edu	37	4	74442353	74442353	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74442353C>A	ENST00000307439.5	-	9	1111	c.817G>T	c.(817-819)Gat>Tat	p.D273Y	RASSF6_ENST00000342081.3_Missense_Mutation_p.D305Y|RASSF6_ENST00000395777.2_Missense_Mutation_p.D239Y|RASSF6_ENST00000335049.5_Missense_Mutation_p.D261Y	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	305	Ras-associating.				apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TCTTCTGCATCTTTATCCATG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													208	215	212			NA	NA	4		NA											NA				74442353		2203	4300	6503	SO:0001583	missense			AY217664	CCDS3558.1, CCDS3559.1, CCDS58904.1, CCDS58905.1	4q21.1	2008-02-22	2008-02-22		ENSG00000169435	ENSG00000169435	166824	166824			20796	protein-coding gene	gene with protein product		612620			NA		Standard	NM_177532	NM_177532	NA	Approved		uc003hhd.2	Q6ZTQ3	OTTHUMG00000130007	ENST00000307439.5:c.817G>T	4.37:g.74442353C>A	ENSP00000303877:p.Asp273Tyr	NA	Q68DT2|Q6PDA6|Q86WG9|Q86WH0	37	CCDS3559.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643034	0.87859	.	.	ENSG00000169435	ENST00000307439;ENST00000342081;ENST00000395777;ENST00000335049	T;T;T;T	0.34275	2.19;2.19;1.37;2.19	6.07	6.07	0.98685	Ras-association (2);	0.137026	0.64402	D	0.000005	T	0.65626	0.2709	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.994;0.996;0.998	T	0.68108	-0.5496	10	0.87932	D	0	-23.6135	18.1378	0.89627	0.0:1.0:0.0:0.0	.	261;239;305	Q6ZTQ3-3;Q6ZTQ3-4;Q6ZTQ3	.;.;RASF6_HUMAN	Y	273;305;239;261	ENSP00000303877:D273Y;ENSP00000340578:D305Y;ENSP00000379123:D239Y;ENSP00000335582:D261Y	ENSP00000303877:D273Y	D	-	1	0	RASSF6	74661217	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.565000	0.53798	2.884000	0.98904	0.655000	0.94253	GAT	RASSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252278.2		-	ENST00000307439.5	Missense_Mutation	SNP	4 : 74442353 - 74442353 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	973	171
DDX4	54514	broad.mit.edu	37	5	55110988	55110988	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55110988G>T	ENST00000505374.1	+	20	2067	c.1975G>T	c.(1975-1977)Gta>Tta	p.V659L	DDX4_ENST00000514278.2_Missense_Mutation_p.V639L|DDX4_ENST00000511853.1_Missense_Mutation_p.V510L|DDX4_ENST00000354991.5_Missense_Mutation_p.V625L|DDX4_ENST00000353507.5_Missense_Mutation_p.V625L	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	659	Helicase C-terminal.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TCTAGTAAAAGTATTGACAGA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	130	130			NA	NA	5		NA											NA				55110988		2203	4300	6503	SO:0001583	missense			AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670	54514	54514		DEAD-boxes	18700	protein-coding gene	gene with protein product		605281	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4		NA	10920202, 11850529	Standard	NM_024415	NM_001142549	NA	Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.1975G>T	5.37:g.55110988G>T	ENSP00000424838:p.Val659Leu	NA	A8K8Q2|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	37	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111772	0.37242	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000354991;ENST00000511853	D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97	5.54	4.67	0.58626	Helicase, C-terminal (1);	0.129390	0.52532	D	0.000067	D	0.86121	0.5857	N	0.00841	-1.15	0.42344	D	0.99234	B;P;P;D	0.71674	0.189;0.949;0.562;0.998	B;P;B;D	0.75484	0.155;0.53;0.32;0.986	D	0.87474	0.2416	10	0.38643	T	0.18	-13.0889	10.3328	0.43833	0.1493:0.0:0.8507:0.0	.	639;510;625;659	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	L	625;639;659;625;510	ENSP00000334167:V625L;ENSP00000425359:V639L;ENSP00000424838:V659L;ENSP00000347087:V625L;ENSP00000423123:V510L	ENSP00000334167:V625L	V	+	1	0	DDX4	55146745	1.000000	0.71417	0.995000	0.50966	0.030000	0.12068	3.229000	0.51278	1.345000	0.45676	0.561000	0.74099	GTA	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214147.2		+	ENST00000505374.1	Missense_Mutation	SNP	5 : 55110988 - 55110988 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	744	125
NOS3	4846	broad.mit.edu	37	7	150704352	150704352	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150704352G>T	ENST00000297494.3	+	17	2457	c.2100G>T	c.(2098-2100)caG>caT	p.Q700H	NOS3_ENST00000461406.1_Missense_Mutation_p.Q494H	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	700	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GCTGGGCCCAGGCTGCCTTCC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	22	20			NA	NA	7		NA											NA				150704352		2199	4287	6486	SO:0001583	missense				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	4846	4846	1.14.13.39		7876	protein-coding gene	gene with protein product	endothelial nitric oxide synthase	163729			NA	1379542	Standard	NM_000603	NM_000603	NA	Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.2100G>T	7.37:g.150704352G>T	ENSP00000297494:p.Gln700His	NA	A8KA63|B2RCQ1|Q13662|Q14251|Q14434|Q548C1|Q6GSL5|Q9UDC6	37	CCDS5912.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305078	0.40795	.	.	ENSG00000164867	ENST00000297494;ENST00000461406	T;T	0.59638	0.25;0.25	5.43	3.38	0.38709	Flavodoxin/nitric oxide synthase (1);	0.326899	0.25511	N	0.030170	T	0.45034	0.1322	L	0.38531	1.155	0.80722	D	1	P;P	0.42785	0.553;0.79	B;B	0.42738	0.396;0.396	T	0.38650	-0.9651	10	0.46703	T	0.11	-17.7321	4.8809	0.13679	0.3627:0.0:0.6373:0.0	.	494;700	E7ESA7;P29474	.;NOS3_HUMAN	H	700;494	ENSP00000297494:Q700H;ENSP00000417143:Q494H	ENSP00000297494:Q700H	Q	+	3	2	NOS3	150335285	0.736000	0.28164	0.998000	0.56505	0.964000	0.63967	0.549000	0.23329	1.304000	0.44892	0.561000	0.74099	CAG	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350750.2		+	ENST00000297494.3	Missense_Mutation	SNP	7 : 150704352 - 150704352 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	248	50
SRPK1	6732	broad.mit.edu	37	6	35842022	35842022	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35842022T>G	ENST00000373825.2	-	7	858	c.573A>C	c.(571-573)aaA>aaC	p.K191N	SRPK1_ENST00000423325.2_Missense_Mutation_p.K175N|SRPK1_ENST00000373822.1_Missense_Mutation_p.K84N|SRPK1_ENST00000373821.2_5'UTR			Q96SB4	SRPK1_HUMAN	SRSF protein kinase 1	191	Protein kinase.				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						GCTGAATAATTTTTTTGACAC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(31;67 978 16289 24856 26454)							NA				0													89	82	84			NA	NA	6		NA											NA				35842022		1843	4100	5943	SO:0001583	missense			U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063	6732	6732			11305	protein-coding gene	gene with protein product	SR protein kinase 1, serine/arginine-rich splicing factor kinase 1	601939	SFRS protein kinase 1		NA	8208298, 10198174	Standard	NM_003137	NM_003137	NA	Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.573A>C	6.37:g.35842022T>G	ENSP00000362931:p.Lys191Asn	NA	Q12890|Q5R364|Q5R365|Q8IY12	37	CCDS47415.1	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834841	0.50951	.	.	ENSG00000096063	ENST00000373825;ENST00000361690;ENST00000423325;ENST00000373822	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	6.17	5.01	0.66863	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.30479	0.0766	N	0.12961	0.28	0.43846	D	0.996439	B;P	0.36660	0.141;0.564	B;B	0.37480	0.087;0.251	T	0.29458	-1.0011	9	0.45353	T	0.12	-18.5937	5.8954	0.18937	0.0:0.1843:0.1347:0.681	.	175;191	B4DS61;Q96SB4	.;SRPK1_HUMAN	N	191;207;175;84	ENSP00000362931:K191N;ENSP00000354674:K207N;ENSP00000391069:K175N;ENSP00000362928:K84N	ENSP00000354674:K207N	K	-	3	2	SRPK1	35950000	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.950000	0.40323	1.151000	0.42436	0.533000	0.62120	AAA	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040319.3		-	ENST00000373825.2	Missense_Mutation	SNP	6 : 35842022 - 35842022 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	91	19
ZNF91	7644	broad.mit.edu	37	19	23544948	23544948	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23544948G>T	ENST00000300619.7	-	4	1038	c.833C>A	c.(832-834)tCc>tAc	p.S278Y	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.S246Y	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	278						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				NA		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TAGGGTTGAGGACCATAGAAA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	116	113			NA	NA	19		NA											NA				23544948		2193	4296	6489	SO:0001583	missense			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232	7644	7644		Zinc fingers, C2H2-type, -	13166	protein-coding gene	gene with protein product		603971	zinc finger protein 91 (HPF7, HTF10)		NA	2023909, 2505992	Standard	NM_003430	XR_430154	NA	Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.833C>A	19.37:g.23544948G>T	ENSP00000300619:p.Ser278Tyr	NA	A8K5E1|B7Z6G6	37	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.904201	0.00512	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.07908	3.15;3.15	1.62	-3.24	0.05094	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05364	0.0142	M	0.67569	2.06	0.09310	N	1	B;B	0.28998	0.193;0.23	B;B	0.16722	0.009;0.016	T	0.51826	-0.8656	9	0.02654	T	1	.	0.4085	0.00437	0.1996:0.2495:0.2755:0.2754	.	246;278	Q05481-2;Q05481	.;ZNF91_HUMAN	Y	278;246	ENSP00000300619:S278Y;ENSP00000380272:S246Y	ENSP00000300619:S278Y	S	-	2	0	ZNF91	23336788	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-1.340000	0.02650	-2.012000	0.00950	-1.252000	0.01501	TCC	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465891.1		-	ENST00000300619.7	Missense_Mutation	SNP	19 : 23544948 - 23544948 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	599	95
NFATC1	4772	broad.mit.edu	37	18	77171307	77171307	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77171307C>A	ENST00000587635.1	+	2	1126	c.1032C>A	c.(1030-1032)ccC>ccA	p.P344P	NFATC1_ENST00000591814.1_Silent_p.P344P|NFATC1_ENST00000427363.2_Silent_p.P344P|NFATC1_ENST00000592223.1_Silent_p.P331P|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000329101.4_Silent_p.P331P|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000542384.1_Silent_p.P344P|NFATC1_ENST00000253506.5_Silent_p.P344P|NFATC1_ENST00000586434.1_Silent_p.P331P|NFATC1_ENST00000318065.5_Silent_p.P331P			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	344					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		AGCAGCCGCCCTCAGTGGCGC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(151;1210 2593 28719 45011)							NA				0													28	29	29			NA	NA	18		NA											NA				77171307		2203	4295	6498	SO:0001819	synonymous_variant			U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196	4772	4772		Nuclear factor of activated T-cells	7775	protein-coding gene	gene with protein product		600489			NA	8202141	Standard	NM_172390	NM_001278669	NA	Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000587635.1:c.1032C>A	18.37:g.77171307C>A		NA	Q12865|Q15793	37																																																																																				NFATC1-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000450505.1		+	ENST00000587635.1	Silent	SNP	18 : 77171307 - 77171307 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	353	56
ANKRD35	148741	broad.mit.edu	37	1	145561096	145561096	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145561096G>A	ENST00000355594.4	+	10	871	c.784G>A	c.(784-786)Gcc>Acc	p.A262T	ANKRD35_ENST00000544626.1_3'UTR	NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	262										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCCAACATAGGCCTCTCCATC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(9;127 754 22988 51047)							NA				0													34	40	38			NA	NA	1		NA											NA				145561096		2203	4300	6503	SO:0001630	splice_region_variant			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483	148741	148741		Ankyrin repeat domain containing	26323	protein-coding gene	gene with protein product					NA		Standard	NM_144698	NM_144698	NA	Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.784-1G>A	1.37:g.145561096G>A		NA	A6NEU0|Q3MJ10|Q96LS3	37	CCDS919.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986217	0.35036	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.65916	-0.18	5.77	3.91	0.45181	.	0.239499	0.29602	N	0.011683	T	0.25232	0.0613	N	0.24115	0.695	0.80722	D	1	B	0.15930	0.015	B	0.15052	0.012	T	0.08086	-1.0739	9	.	.	.	-0.742	8.9586	0.35834	0.1698:0.0:0.8302:0.0	.	262	Q8N283	ANR35_HUMAN	T	171;262	ENSP00000347802:A262T	.	A	+	1	0	ANKRD35	144272453	1.000000	0.71417	0.986000	0.45419	0.137000	0.21094	1.100000	0.31025	0.908000	0.36671	0.655000	0.94253	GCC	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000038515.1	Missense_Mutation	+	ENST00000355594.4	Splice_Site	SNP	1 : 145561096 - 145561096 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	186	43
SPEG	10290	broad.mit.edu	37	2	220338459	220338459	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220338459G>T	ENST00000312358.7	+	18	4413	c.4281G>T	c.(4279-4281)ggG>ggT	p.G1427G	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1427	Ig-like 7.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCTGCCGAGGGGCCCTCCTAG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	92	88			NA	NA	2		NA											NA				220338459		2048	4191	6239	SO:0001819	synonymous_variant			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195	10290	10290		Immunoglobulin superfamily / I-set domain containing	16901	protein-coding gene	gene with protein product		615950	aortic preferentially expressed gene 1	APEG1	NA	8663449, 10973969	Standard	NM_005876	NM_005876	NA	Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.4281G>T	2.37:g.220338459G>T		NA	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	37	CCDS42824.1																																																																																			SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130252.2		+	ENST00000312358.7	Silent	SNP	2 : 220338459 - 220338459 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1198	180
CAPN1	823	broad.mit.edu	37	11	64972252	64972252	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64972252G>A	ENST00000527323.1	+	10	1504	c.1264G>A	c.(1264-1266)Gcc>Acc	p.A422T	CAPN1_ENST00000279247.6_Missense_Mutation_p.A422T|CAPN1_ENST00000533820.1_Missense_Mutation_p.A422T|CAPN1_ENST00000533129.1_Missense_Mutation_p.A422T|CAPN1_ENST00000524773.1_Missense_Mutation_p.A422T			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	422	Domain III.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CTTCGTGCTCGCCCTTATGCA	0.637		NA									OREG0021073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	54	51			NA	NA	11		NA											NA				64972252		2072	4203	6275	SO:0001583	missense			X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	823	823	3.4.22.52	EF-hand domain containing	1476	protein-coding gene	gene with protein product		114220			NA	3017764, 2209092	Standard		NM_005186	NA	Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.1264G>A	11.37:g.64972252G>A	ENSP00000431984:p.Ala422Thr	1080	Q2TTR0|Q6DHV4	37	CCDS44644.1	.	.	.	.	.	.	.	.	.	.	G	36	5.805608	0.96967	.	.	ENSG00000014216	ENST00000533820;ENST00000533129;ENST00000524773;ENST00000279247;ENST00000259755;ENST00000527323	D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38	4.51	4.51	0.55191	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.056434	0.64402	D	0.000002	D	0.92928	0.7750	M	0.69463	2.115	0.80722	D	1	D	0.69078	0.997	D	0.66084	0.941	D	0.93795	0.7096	10	0.87932	D	0	.	15.0833	0.72130	0.0:0.0:1.0:0.0	.	422	P07384	CAN1_HUMAN	T	422;422;422;422;368;422	ENSP00000435272:A422T;ENSP00000431686:A422T;ENSP00000434176:A422T;ENSP00000279247:A422T;ENSP00000431984:A422T	ENSP00000259755:A368T	A	+	1	0	CAPN1	64728828	1.000000	0.71417	0.888000	0.34837	0.970000	0.65996	9.716000	0.98752	2.232000	0.73038	0.563000	0.77884	GCC	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385325.1		+	ENST00000527323.1	Missense_Mutation	SNP	11 : 64972252 - 64972252 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	392	85
MTPAP	55149	broad.mit.edu	37	10	30611535	30611535	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30611535G>A	ENST00000263063.4	-	6	1047	c.1004C>T	c.(1003-1005)aCa>aTa	p.T335I	MTPAP_ENST00000358107.4_Missense_Mutation_p.T465I|MTPAP_ENST00000488290.1_5'UTR	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	NA					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TTCGGAACTTGTCAAGGCAAT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	40	40			NA	NA	10		NA											NA				30611535		2203	4300	6503	SO:0001583	missense			AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951	55149	55149			25532	protein-coding gene	gene with protein product	TUTase1	613669	PAP associated domain containing 1	PAPD1	NA	12239557, 15769737, 15547249	Standard	NM_018109	NM_018109	NA	Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.1004C>T	10.37:g.30611535G>A	ENSP00000263063:p.Thr335Ile	NA	D3DRX0|Q659E3|Q6P7E5|Q9HA74	37	CCDS7165.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.799941	0.31869	.	.	ENSG00000107951	ENST00000358107;ENST00000263063	T;T	0.40225	1.04;1.04	5.66	3.33	0.38152	.	0.249755	0.45867	D	0.000323	T	0.19248	0.0462	N	0.08118	0	0.29088	N	0.882245	P;B	0.45011	0.848;0.004	B;B	0.41646	0.362;0.002	T	0.05616	-1.0874	10	0.23891	T	0.37	-24.4344	4.2878	0.10863	0.0:0.2656:0.1765:0.5579	.	465;335	Q9NVV4-2;Q9NVV4	.;PAPD1_HUMAN	I	465;335	ENSP00000350820:T465I;ENSP00000263063:T335I	ENSP00000263063:T335I	T	-	2	0	MTPAP	30651541	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	0.778000	0.26732	0.509000	0.28195	-0.493000	0.04662	ACA	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047426.2		-	ENST00000263063.4	Missense_Mutation	SNP	10 : 30611535 - 30611535 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	160	37
SLC38A4	55089	broad.mit.edu	37	12	47168916	47168916	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:47168916C>T	ENST00000447411.1	-	13	1421	c.1215G>A	c.(1213-1215)gtG>gtA	p.V405V	SLC38A4_ENST00000266579.4_Silent_p.V405V	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	405					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CTAATGTATACACTTTGCTGT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	136	142			NA	NA	12		NA											NA				47168916		2203	4300	6503	SO:0001819	synonymous_variant			AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209	55089	55089		Solute carriers	14679	protein-coding gene	gene with protein product		608065			NA	11414754	Standard		NM_018018	NA	Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.1215G>A	12.37:g.47168916C>T		NA	A8K553	37	CCDS8750.1																																																																																			SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404574.1		-	ENST00000447411.1	Silent	SNP	12 : 47168916 - 47168916 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	528	90
THBS1	7057	broad.mit.edu	37	15	39885651	39885651	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:39885651G>A	ENST00000260356.5	+	19	3214	c.3049G>A	c.(3049-3051)Gaa>Aaa	p.E1017K		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1017	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CATCAACACCGAAAGGGACGA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													205	208	207			NA	NA	15		NA											NA				39885651		2200	4297	6497	SO:0001583	missense				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801	7057	7057			11785	protein-coding gene	gene with protein product	thrombospondin-1p180	188060			NA	2341158, 2335352	Standard	NM_003246	NM_003246	NA	Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.3049G>A	15.37:g.39885651G>A	ENSP00000260356:p.Glu1017Lys	NA	A8K6H4|B9EGH6|Q15667	37	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364802	0.82463	.	.	ENSG00000137801	ENST00000260356	D	0.95171	-3.63	5.77	5.77	0.91146	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.36628	N	0.002492	D	0.91566	0.7336	L	0.35854	1.095	0.80722	D	1	P;D	0.53619	0.911;0.961	B;B	0.40228	0.255;0.323	D	0.91634	0.5321	10	0.46703	T	0.11	-23.8437	19.9729	0.97289	0.0:0.0:1.0:0.0	.	932;1017	B4E3J7;P07996	.;TSP1_HUMAN	K	1017	ENSP00000260356:E1017K	ENSP00000260356:E1017K	E	+	1	0	THBS1	37672943	1.000000	0.71417	0.827000	0.32855	0.987000	0.75469	9.864000	0.99589	2.714000	0.92807	0.655000	0.94253	GAA	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257831.2		+	ENST00000260356.5	Missense_Mutation	SNP	15 : 39885651 - 39885651 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1453	63
DOCK3	1795	broad.mit.edu	37	3	51263178	51263178	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51263178C>A	ENST00000266037.9	+	15	1374	c.1351C>A	c.(1351-1353)Ctt>Att	p.L451I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	451	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CATGTATGTGCTTTATGCAGA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	162	163			NA	NA	3		NA											NA				51263178		1892	4125	6017	SO:0001583	missense			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538	1795	1795			2989	protein-coding gene	gene with protein product		603123	dedicator of cyto-kinesis 3		NA	9205841	Standard	NM_004947	NM_004947	NA	Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1351C>A	3.37:g.51263178C>A	ENSP00000266037:p.Leu451Ile	NA	O15017	37	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806972	0.90623	.	.	ENSG00000088538	ENST00000266037	T	0.14640	2.49	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.22282	0.0537	L	0.44542	1.39	0.80722	D	1	P	0.39022	0.655	P	0.47786	0.557	T	0.00948	-1.1504	10	0.22109	T	0.4	.	19.7077	0.96081	0.0:1.0:0.0:0.0	.	451	Q8IZD9	DOCK3_HUMAN	I	451	ENSP00000266037:L451I	ENSP00000266037:L451I	L	+	1	0	DOCK3	51238218	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.694000	0.68272	2.733000	0.93635	0.655000	0.94253	CTT	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346478.5		+	ENST00000266037.9	Missense_Mutation	SNP	3 : 51263178 - 51263178 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	541	98
SIRPB1	10326	broad.mit.edu	37	20	1552659	1552659	+	Missense_Mutation	SNP	G	G	A	rs150061145	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1552659G>A	ENST00000381605.4	-	3	522	c.458C>T	c.(457-459)tCg>tTg	p.S153L	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000262929.5_Intron|SIRPB1_ENST00000381603.3_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	153	Ig-like C1-type 1.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CGCAGGGCCCGATACCACGGG	0.517		NA												2	9e-04	0.0041	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	9e-04	1	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0								A	,LEU/SER	11,4395		0,11,2192	94	88	90		,458	0.4	0	20	dbSNP_134	90	5,8595		0,5,4295	no	intron,missense	SIRPB1	NM_001083910.2,NM_006065.3	,145	0,16,6487	AA,AG,GG	NA	0.0581,0.2497,0.123	,benign	,153/399	1552659	16,12990	2203	4300	6503	SO:0001583	missense			Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307	10326	10326		Signal-regulatory proteins, CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C1-set domain containing	15928	protein-coding gene	gene with protein product		603889			NA	9062191, 16339511	Standard	NM_006065	NM_001083910	NA	Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.458C>T	20.37:g.1552659G>A	ENSP00000371018:p.Ser153Leu	NA	A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	37	CCDS13019.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	.	7.359	0.624406	0.14193	0.002497	5.81E-4	ENSG00000101307	ENST00000381605	T	0.00605	6.27	2.47	0.402	0.16344	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.340210	0.04873	N	0.446205	T	0.00875	0.0029	M	0.79805	2.47	0.09310	N	1	B	0.30482	0.281	B	0.16289	0.015	T	0.55379	-0.8150	10	0.16896	T	0.51	.	6.5628	0.22495	0.3001:0.0:0.6999:0.0	.	153	O00241	SIRB1_HUMAN	L	153	ENSP00000371018:S153L	ENSP00000371018:S153L	S	-	2	0	SIRPB1	1500659	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.036000	0.12185	0.003000	0.14656	-1.489000	0.00976	TCG	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077555.2		-	ENST00000381605.4	Missense_Mutation	SNP	20 : 1552659 - 1552659 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	444	16
MSTN	2660	broad.mit.edu	37	2	190924940	190924940	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190924940C>A	ENST00000260950.4	-	2	727	c.595G>T	c.(595-597)Ggc>Tgc	p.G199C	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	199					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			ATACCAGTGCCTGGGTTCATG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													210	195	200			NA	NA	2		NA											NA				190924940		2203	4300	6503	SO:0001583	missense			AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379	2660	2660			4223	protein-coding gene	gene with protein product		601788	growth differentiation factor 8	GDF8	NA	9288100, 10610713, 17003236	Standard	NM_005259	NM_005259	NA	Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.595G>T	2.37:g.190924940C>A	ENSP00000260950:p.Gly199Cys	NA	A1C2J7|A1C2K0|Q6B0H2	37	CCDS2303.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846205	0.71603	.	.	ENSG00000138379	ENST00000260950	T	0.71817	-0.6	5.76	4.83	0.62350	Transforming growth factor-beta, N-terminal (1);	1.956010	0.03705	U	0.249212	D	0.86121	0.5857	M	0.72353	2.195	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.73959	-0.3818	10	0.87932	D	0	-9.579	16.2783	0.82656	0.0:0.8676:0.1324:0.0	.	199	O14793	GDF8_HUMAN	C	199	ENSP00000260950:G199C	ENSP00000260950:G199C	G	-	1	0	MSTN	190633185	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.668000	0.46816	2.718000	0.92993	0.650000	0.86243	GGC	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255917.2		-	ENST00000260950.4	Missense_Mutation	SNP	2 : 190924940 - 190924940 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	904	160
MAPK7	5598	broad.mit.edu	37	17	19286192	19286192	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19286192G>A	ENST00000308406.5	+	6	2616	c.2230G>A	c.(2230-2232)Ggc>Agc	p.G744S	MAPK7_ENST00000299612.7_Missense_Mutation_p.G605S|MAPK7_ENST00000395604.3_Missense_Mutation_p.G744S|MAPK7_ENST00000395602.4_Missense_Mutation_p.G744S|MAPK7_ENST00000571657.1_3'UTR	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	744	May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|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	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CTACGGTGTTGGCTTTGACCT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	146	148			NA	NA	17		NA											NA				19286192		2203	4300	6503	SO:0001583	missense			U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	5598	5598	2.7.11.24	Mitogen-activated protein kinase cascade / Kinases	6880	protein-coding gene	gene with protein product	BMK1 kinase, extracellular-signal-regulated kinase 5	602521		PRKM7	NA	10072598, 7759517	Standard	NM_139033	NM_139032	NA	Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.2230G>A	17.37:g.19286192G>A	ENSP00000311005:p.Gly744Ser	NA	Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	37	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	G	33	5.259303	0.95368	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;D;T;T	0.82526	-1.41;-1.62;-1.41;-1.41	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.89901	0.6849	M	0.63843	1.955	0.53688	D	0.999973	D	0.89917	1.0	D	0.87578	0.998	D	0.90678	0.4603	10	0.87932	D	0	-27.6555	16.7641	0.85520	0.0:0.0:1.0:0.0	.	744	Q13164	MK07_HUMAN	S	744;605;744;744	ENSP00000311005:G744S;ENSP00000299612:G605S;ENSP00000378968:G744S;ENSP00000378966:G744S	ENSP00000299612:G605S	G	+	1	0	MAPK7	19226785	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.830000	0.92063	2.565000	0.86533	0.491000	0.48974	GGC	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132506.1		+	ENST00000308406.5	Missense_Mutation	SNP	17 : 19286192 - 19286192 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	548	100
NSG1	0	broad.mit.edu	37	4	4419023	4419023	+	Missense_Mutation	SNP	G	G	A	rs139279868		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:4419023G>A	ENST00000504171.1	+	4	397	c.302G>A	c.(301-303)cGg>cAg	p.R101Q	STX18_ENST00000505286.1_Intron|NSG1_ENST00000433139.2_Missense_Mutation_p.R140Q|NSG1_ENST00000397958.1_Missense_Mutation_p.R140Q|NSG1_ENST00000506380.1_Missense_Mutation_p.R140Q|NSG1_ENST00000421177.2_Missense_Mutation_p.R140Q|NSG1_ENST00000513555.1_Missense_Mutation_p.R140Q|NSG1_ENST00000505246.1_Missense_Mutation_p.R140Q						NA											NA						TCCAGTGCCCGGGAGAAATTT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	84	89	87		419,419	2.6	1	4	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	D4S234E	NM_001040101.1,NM_014392.3	43,43	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign,benign	140/186,140/186	4419023	1,13005	2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000504171.1:c.302G>A	4.37:g.4419023G>A	ENSP00000425803:p.Arg101Gln	NA		37		.	.	.	.	.	.	.	.	.	.	G	11.20	1.568709	0.28003	0.0	1.16E-4	ENSG00000168824	ENST00000421177;ENST00000513555;ENST00000505246;ENST00000506380;ENST00000397958;ENST00000433139;ENST00000504171	.	.	.	4.4	2.61	0.31194	.	0.248124	0.34314	N	0.004078	T	0.37376	0.1001	L	0.39147	1.195	0.80722	D	1	B;P	0.39862	0.035;0.692	B;B	0.33295	0.014;0.161	T	0.14504	-1.0470	9	0.62326	D	0.03	-3.1935	8.0789	0.30733	0.0819:0.3077:0.6104:0.0	.	101;140	B4DXC5;P42857	.;NSG1_HUMAN	Q	140;140;140;140;140;140;101	.	ENSP00000381049:R140Q	R	+	2	0	AC110814.1	4469924	1.000000	0.71417	0.998000	0.56505	0.109000	0.19521	6.072000	0.71238	0.283000	0.22279	-0.305000	0.09177	CGG	NSG1-004	NOVEL	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000358777.1		+	ENST00000504171.1	Missense_Mutation	SNP	4 : 4419023 - 4419023 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	614	111
DNMT3A	1788	broad.mit.edu	37	2	25467030	25467030	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25467030C>A	ENST00000264709.3	-	15	2182	c.1845G>T	c.(1843-1845)caG>caT	p.Q615H	DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Missense_Mutation_p.Q615H|DNMT3A_ENST00000380746.4_Missense_Mutation_p.Q426H|DNMT3A_ENST00000402667.1_Missense_Mutation_p.Q392H	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	615					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCACAAATTCCTGGTCGTGGT	0.637		NA	Mis, F, N, S		AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0													32	37	36			NA	NA	2		NA											NA				25467030		2203	4300	6503	SO:0001583	missense				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772	1788	1788			2978	protein-coding gene	gene with protein product		602769			NA	9662389, 10433969	Standard	NM_022552	NM_175630	NA	Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1845G>T	2.37:g.25467030C>A	ENSP00000264709:p.Gln615His	NA	Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	37	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789743	0.70337	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.08	3.25	0.37280	.	0.000000	0.85682	D	0.000000	D	0.83585	0.5286	M	0.71036	2.16	0.80722	D	1	B;D	0.71674	0.353;0.998	B;D	0.79784	0.106;0.993	T	0.81015	-0.1124	10	0.33141	T	0.24	-9.0995	8.0965	0.30831	0.0:0.762:0.0:0.238	.	615;426	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	H	426;615;615;392	ENSP00000370122:Q426H;ENSP00000324375:Q615H;ENSP00000264709:Q615H;ENSP00000384237:Q392H	ENSP00000264709:Q615H	Q	-	3	2	DNMT3A	25320534	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.644000	0.24766	2.354000	0.79902	0.655000	0.94253	CAG	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000211587.1		-	ENST00000264709.3	Missense_Mutation	SNP	2 : 25467030 - 25467030 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	437	137
ARMC6	93436	broad.mit.edu	37	19	19162840	19162840	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19162840C>T	ENST00000546344.1	+	2	728	c.410C>T	c.(409-411)aCc>aTc	p.T137I	ARMC6_ENST00000392336.3_Missense_Mutation_p.T230I|ARMC6_ENST00000269932.6_Missense_Mutation_p.T205I|ARMC6_ENST00000535612.1_Missense_Mutation_p.T230I|ARMC6_ENST00000392335.2_Missense_Mutation_p.T205I			Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	230							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			GGTGCCATCACCCATCATGGC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	55	67			NA	NA	19		NA											NA				19162840		2203	4300	6503	SO:0001583	missense			BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676	93436	93436		Armadillo repeat containing	25049	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_033415	NM_033415	NA	Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000546344.1:c.410C>T	19.37:g.19162840C>T	ENSP00000444341:p.Thr137Ile	NA	B4DI98|O94999|Q9BTH5	37		.	.	.	.	.	.	.	.	.	.	C	3.571	-0.087560	0.07097	.	.	ENSG00000105676	ENST00000392335;ENST00000535612;ENST00000537263;ENST00000269932;ENST00000546344;ENST00000541898;ENST00000535288;ENST00000545190;ENST00000379532;ENST00000392336	T;T;T;T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47	5.32	-1.02	0.10135	Armadillo-like helical (1);Armadillo-type fold (1);	0.818936	0.11528	N	0.554983	T	0.51669	0.1688	L	0.36672	1.1	0.09310	N	1	B	0.34181	0.44	B	0.27170	0.077	T	0.35126	-0.9801	10	0.38643	T	0.18	-2.7493	5.6963	0.17857	0.1775:0.4361:0.0:0.3864	.	230	Q6NXE6	ARMC6_HUMAN	I	205;230;205;205;137;205;137;141;141;230	ENSP00000376147:T205I;ENSP00000444156:T230I;ENSP00000441948:T205I;ENSP00000269932:T205I;ENSP00000444341:T137I;ENSP00000446037:T205I;ENSP00000437580:T137I;ENSP00000376148:T230I	ENSP00000269932:T205I	T	+	2	0	ARMC6	19023840	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.084000	0.14891	0.010000	0.14839	-0.254000	0.11334	ACC	ARMC6-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000403231.1		+	ENST00000546344.1	Missense_Mutation	SNP	19 : 19162840 - 19162840 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	275	44
RP1	6101	broad.mit.edu	37	8	55540824	55540824	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55540824A>C	ENST00000220676.1	+	4	4530	c.4382A>C	c.(4381-4383)aAc>aCc	p.N1461T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1461					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGTGAAAGAAACATTTCAGAA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(91;1014 1389 7634 14542 40420)							NA				0													50	54	53			NA	NA	8		NA											NA				55540824		2202	4299	6501	SO:0001583	missense			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237	6101	6101			10263	protein-coding gene	gene with protein product		603937			NA	1783394	Standard	NM_006269	NM_006269	NA	Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.4382A>C	8.37:g.55540824A>C	ENSP00000220676:p.Asn1461Thr	NA		37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	11.65	1.702442	0.30232	.	.	ENSG00000104237	ENST00000220676	T	0.65364	-0.15	5.48	0.271	0.15640	.	0.461357	0.19939	N	0.102690	T	0.53562	0.1804	M	0.68952	2.095	0.09310	N	1	P	0.39282	0.666	B	0.37508	0.252	T	0.50372	-0.8836	10	0.87932	D	0	-2.9732	5.6249	0.17477	0.5776:0.1383:0.2841:0.0	.	1461	P56715	RP1_HUMAN	T	1461	ENSP00000220676:N1461T	ENSP00000220676:N1461T	N	+	2	0	RP1	55703377	0.000000	0.05858	0.021000	0.16686	0.634000	0.38068	-0.722000	0.04958	-0.176000	0.10707	0.533000	0.62120	AAC	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378532.2		+	ENST00000220676.1	Missense_Mutation	SNP	8 : 55540824 - 55540824 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	367	80
SMARCAL1	50485	broad.mit.edu	37	2	217285059	217285059	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217285059G>A	ENST00000357276.4	+	5	1230	c.900G>A	c.(898-900)caG>caA	p.Q300Q	SMARCAL1_ENST00000358207.5_Silent_p.Q300Q	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	300	HARP 1.				chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		TCAACCTGCAGCCTCTGGAAT	0.547		NA							Schimke Immuno-Osseous Dysplasia					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	48	51			NA	NA	2		NA											NA				217285059		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	SIOD	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375	50485	50485			11102	protein-coding gene	gene with protein product	HepA-related protein, ATP-driven annealing helicase	606622			NA	10713074, 10857751, 18974355	Standard		NM_014140	NA	Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.900G>A	2.37:g.217285059G>A		NA	A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	37	CCDS2403.1																																																																																			SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256671.2		+	ENST00000357276.4	Silent	SNP	2 : 217285059 - 217285059 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	239	20
DLGAP3	58512	broad.mit.edu	37	1	35370403	35370403	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35370403G>T	ENST00000373347.1	-	3	850	c.582C>A	c.(580-582)gaC>gaA	p.D194E	DLGAP3_ENST00000235180.4_Missense_Mutation_p.D194E			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	194					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GCCCATTATAGTCCCGCTTCC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	28	27			NA	NA	1		NA											NA				35370403		2203	4297	6500	SO:0001583	missense			AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544	58512	58512			30368	protein-coding gene	gene with protein product		611413			NA	8619474, 9110174	Standard	NM_021234	NM_001080418	NA	Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.582C>A	1.37:g.35370403G>T	ENSP00000362444:p.Asp194Glu	NA	Q5TDD5|Q9H3X7	37	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	G	5.093	0.202863	0.09704	.	.	ENSG00000116544	ENST00000373347;ENST00000235180	T;T	0.23552	1.9;1.9	4.47	2.29	0.28610	.	0.126216	0.53938	D	0.000043	T	0.11793	0.0287	N	0.11927	0.2	0.31210	N	0.698711	B	0.13594	0.008	B	0.10450	0.005	T	0.12811	-1.0533	10	0.23891	T	0.37	-12.827	6.8141	0.23820	0.1842:0.3212:0.4945:0.0	.	194	O95886	DLGP3_HUMAN	E	194	ENSP00000362444:D194E;ENSP00000235180:D194E	ENSP00000235180:D194E	D	-	3	2	DLGAP3	35142990	0.948000	0.32251	1.000000	0.80357	0.957000	0.61999	0.087000	0.14958	0.959000	0.37980	0.448000	0.29417	GAC	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000011554.1		-	ENST00000373347.1	Missense_Mutation	SNP	1 : 35370403 - 35370403 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	30
TMEM200C	645369	broad.mit.edu	37	18	5891977	5891977	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:5891977C>T	ENST00000581347.2	-	3	731	c.86G>A	c.(85-87)cGg>cAg	p.R29Q	TMEM200C_ENST00000383490.2_Missense_Mutation_p.R29Q|RP11-945C19.4_ENST00000577694.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	NA						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						CTTGGCTTTCCGCTTGCGCTT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	89	87			NA	NA	18		NA											NA				5891977		2129	4247	6376	SO:0001583	missense				CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432	645369	645369			37208	protein-coding gene	gene with protein product					NA	15722956	Standard	NM_001080209	NM_001080209	NA	Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.86G>A	18.37:g.5891977C>T	ENSP00000463375:p.Arg29Gln	NA		37	CCDS45825.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.845131	0.91197	.	.	ENSG00000206432	ENST00000383490	.	.	.	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.76793	0.4037	L	0.59436	1.845	0.44417	D	0.997337	D	0.89917	1.0	D	0.77557	0.99	T	0.79172	-0.1913	9	0.66056	D	0.02	-11.4275	18.2993	0.90158	0.0:1.0:0.0:0.0	.	29	A6NKL6	T200C_HUMAN	Q	29	.	ENSP00000372982:R29Q	R	-	2	0	TMEM200C	5881977	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.841000	0.62824	2.376000	0.81061	0.557000	0.71058	CGG	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000441917.4		-	ENST00000581347.2	Missense_Mutation	SNP	18 : 5891977 - 5891977 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	213	48
MKI67	4288	broad.mit.edu	37	10	129904345	129904345	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129904345A>G	ENST00000368654.3	-	13	6134	c.5759T>C	c.(5758-5760)tTt>tCt	p.F1920S	MKI67_ENST00000368653.3_Missense_Mutation_p.F1560S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1920	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGTCCCCACAAATGTGTTGAT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													217	214	215			NA	NA	10		NA											NA				129904345		2203	4300	6503	SO:0001583	missense			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773	4288	4288			7107	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 105	176741	antigen identified by monoclonal antibody Ki-67		NA	2571566, 16206250	Standard	NM_002417	NM_002417	NA	Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.5759T>C	10.37:g.129904345A>G	ENSP00000357643:p.Phe1920Ser	NA	Q5VWH2	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	A	12.28	1.891066	0.33348	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02301	4.35;4.35	3.66	-3.11	0.05299	.	0.693193	0.11826	N	0.525701	T	0.04815	0.0130	L	0.40543	1.245	0.09310	N	1	B;P;D	0.89917	0.22;0.811;1.0	B;P;D	0.77557	0.042;0.455;0.99	T	0.08932	-1.0698	10	0.06625	T	0.88	.	11.106	0.48203	0.4366:0.0:0.5634:0.0	.	1919;1560;1920	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	S	1920;1560;1919	ENSP00000357643:F1920S;ENSP00000357642:F1560S	ENSP00000357642:F1560S	F	-	2	0	MKI67	129794335	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.254000	0.18314	-0.812000	0.04363	-0.250000	0.11733	TTT	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050999.1		-	ENST00000368654.3	Missense_Mutation	SNP	10 : 129904345 - 129904345 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1524	247
SMYD1	150572	broad.mit.edu	37	2	88383924	88383924	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88383924G>A	ENST00000444564.2	+	2	267	c.227G>A	c.(226-228)cGc>cAc	p.R76H	SMYD1_ENST00000438570.1_Missense_Mutation_p.R76H|SMYD1_ENST00000468008.1_3'UTR|SMYD1_ENST00000419482.2_Missense_Mutation_p.R76H			Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	76					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TACTGCGACCGCACCTGCCAG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	93	99			NA	NA	2		NA											NA				88383924		2203	4300	6503	SO:0001583	missense			AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593	150572	150572		Zinc fingers, MYND-type, Chromatin-modifying enzymes / K-methyltransferases	20986	protein-coding gene	gene with protein product		606846			NA	11923873	Standard	XM_097915	NM_198274	NA	Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000444564.2:c.227G>A	2.37:g.88383924G>A	ENSP00000407888:p.Arg76His	NA	A0AV30|A6NE13	37		.	.	.	.	.	.	.	.	.	.	G	32	5.173281	0.94807	.	.	ENSG00000115593	ENST00000419482;ENST00000444564;ENST00000438570	T;T;T	0.15718	2.4;2.4;2.4	5.63	5.63	0.86233	SET domain (2);Zinc finger, MYND-type (3);	0.057799	0.64402	D	0.000002	T	0.46268	0.1384	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.65773	0.938;0.91	T	0.45145	-0.9281	10	0.56958	D	0.05	-22.6217	18.6665	0.91492	0.0:0.0:1.0:0.0	.	76;76	Q8NB12;C9JUP3	SMYD1_HUMAN;.	H	76	ENSP00000393453:R76H;ENSP00000407888:R76H;ENSP00000387482:R76H	ENSP00000393453:R76H	R	+	2	0	SMYD1	88165039	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.414000	0.97362	2.655000	0.90218	0.555000	0.69702	CGC	SMYD1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000338230.2		+	ENST00000444564.2	Missense_Mutation	SNP	2 : 88383924 - 88383924 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	526	107
SMPDL3A	10924	broad.mit.edu	37	6	123127404	123127404	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:123127404G>A	ENST00000368440.4	+	7	1123	c.946G>A	c.(946-948)Gct>Act	p.A316T	SMPDL3A_ENST00000539041.1_Missense_Mutation_p.A185T	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	316					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		TTTGTTTGTGGCTCCTGCTGT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	110	110			NA	NA	6		NA											NA				123127404		2203	4300	6503	SO:0001583	missense			AK000184	CCDS5128.1, CCDS69190.1	6q22.32	2006-04-12			ENSG00000172594	ENSG00000172594	10924	10924			17389	protein-coding gene	gene with protein product	acid sphingomyelinase-like phosphodiesterase 3a	610728			NA	12442002	Standard	NM_006714	XM_005266798	NA	Approved	FLJ20177, ASM3A, ASML3a, yR36GH4.1	uc003pzg.3	Q92484	OTTHUMG00000015490	ENST00000368440.4:c.946G>A	6.37:g.123127404G>A	ENSP00000357425:p.Ala316Thr	NA	Q8WV13	37	CCDS5128.1	.	.	.	.	.	.	.	.	.	.	G	5.830	0.337335	0.11013	.	.	ENSG00000172594	ENST00000368440;ENST00000539041	D;D	0.86865	-2.18;-2.18	5.76	4.87	0.63330	.	0.299636	0.38663	N	0.001612	T	0.66056	0.2751	L	0.28192	0.835	0.47994	D	0.999561	B	0.22080	0.064	B	0.15870	0.014	T	0.64980	-0.6279	10	0.30854	T	0.27	-13.8831	9.4081	0.38473	0.0719:0.0:0.7831:0.1449	.	316	Q92484	ASM3A_HUMAN	T	316;185	ENSP00000357425:A316T;ENSP00000442152:A185T	ENSP00000357425:A316T	A	+	1	0	SMPDL3A	123169103	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.857000	0.55972	1.533000	0.49186	0.655000	0.94253	GCT	SMPDL3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042039.1		+	ENST00000368440.4	Missense_Mutation	SNP	6 : 123127404 - 123127404 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	37
S100A11	6282	broad.mit.edu	37	1	152005293	152005293	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152005293T>C	ENST00000271638.2	-	3	282	c.163A>G	c.(163-165)Aag>Gag	p.K55E	NBPF18P_ENST00000432386.1_RNA|S100A11_ENST00000478109.1_5'UTR	NM_005620.1	NP_005611.1	P31949	S10AB_HUMAN	S100 calcium binding protein A11	55	EF-hand 2.				negative regulation of cell proliferation|negative regulation of DNA replication|signal transduction	cytoplasm|nucleus|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|S100 beta binding			large_intestine(1)|lung(1)|prostate(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CCAGGGTCCTTCTGGTTCTGC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(152;1751 1834 12462 21158 46902)							NA				0													67	65	66			NA	NA	1		NA											NA				152005293		2203	4300	6503	SO:0001583	missense			D38583	CCDS1009.1	1q21	2013-01-10	2006-09-11		ENSG00000163191	ENSG00000163191	6282	6282		S100 calcium binding proteins, EF-hand domain containing	10488	protein-coding gene	gene with protein product		603114	S100 calcium-binding protein A11 (calgizzarin), S100 calcium binding protein A11 (calgizzarin)		NA	8985590	Standard	NM_005620	NM_005620	NA	Approved	S100C	uc001ezn.3	P31949	OTTHUMG00000013069	ENST00000271638.2:c.163A>G	1.37:g.152005293T>C	ENSP00000271638:p.Lys55Glu	NA	Q5VTK0	37	CCDS1009.1	.	.	.	.	.	.	.	.	.	.	T	19.00	3.742281	0.69418	.	.	ENSG00000163191	ENST00000271638	T	0.06768	3.26	5.09	5.09	0.68999	EF-hand-like domain (1);	0.180386	0.38720	N	0.001594	T	0.21062	0.0507	M	0.91818	3.245	0.45914	D	0.998756	D	0.62365	0.991	P	0.58620	0.842	T	0.05419	-1.0886	10	0.62326	D	0.03	.	11.5407	0.50665	0.0:0.0:0.0:1.0	.	55	P31949	S10AB_HUMAN	E	55	ENSP00000271638:K55E	ENSP00000271638:K55E	K	-	1	0	S100A11	150271917	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	2.351000	0.44071	2.046000	0.60703	0.402000	0.26972	AAG	S100A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000036676.1		-	ENST00000271638.2	Missense_Mutation	SNP	1 : 152005293 - 152005293 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	452	45
NKTR	4820	broad.mit.edu	37	3	42685488	42685488	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42685488C>T	ENST00000232978.8	+	16	4482	c.4294C>T	c.(4294-4296)Cgg>Tgg	p.R1432W	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1432					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TTATAATCGGCGGTCCAGGTG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	95	101			NA	NA	3		NA											NA				42685488		2203	4300	6503	SO:0001583	missense				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857	4820	4820			7833	protein-coding gene	gene with protein product	NK-tumor recognition protein, natural-killer cells cyclophilin-related protein, NK-TR protein	161565	natural killer-tumor recognition sequence		NA	8314596, 8144875	Standard	NM_005385	XM_005265173	NA	Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.4294C>T	3.37:g.42685488C>T	ENSP00000232978:p.Arg1432Trp	NA		37	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.293489	0.60086	.	.	ENSG00000114857	ENST00000232978	T	0.23950	1.88	5.52	4.64	0.57946	.	0.060738	0.64402	N	0.000004	T	0.26085	0.0636	M	0.72894	2.215	0.80722	D	1	P;P	0.41710	0.76;0.647	B;B	0.34873	0.191;0.048	T	0.09796	-1.0658	10	0.87932	D	0	-3.2097	9.981	0.41813	0.1459:0.7803:0.0:0.0738	.	1132;1432	Q6M1B8;P30414	.;NKTR_HUMAN	W	1432	ENSP00000232978:R1432W	ENSP00000232978:R1432W	R	+	1	2	NKTR	42660492	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.085000	0.30840	1.341000	0.45600	0.655000	0.94253	CGG	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256642.2		+	ENST00000232978.8	Missense_Mutation	SNP	3 : 42685488 - 42685488 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	209	26
SRSF6	6431	broad.mit.edu	37	20	42088725	42088725	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42088725G>A	ENST00000244020.3	+	4	540	c.434G>A	c.(433-435)cGa>cAa	p.R145Q		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	145	RRM 2.		R -> Q (in a colorectal cancer sample; somatic mutation).		mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	p.R145Q(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						CACAAGGAACGAACAAATGAG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											139	137	138			NA	NA	20		NA											NA				42088725		2203	4300	6503	SO:0001583	missense			U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193	6431	6431		Serine/arginine-rich splicing factors, RNA binding motif (RRM) containing	10788	protein-coding gene	gene with protein product	pre-mRNA splicing factor SRP55, SR splicing factor 6	601944	splicing factor, arginine/serine-rich 6	SFRS6	NA	7556075, 20516191	Standard	NM_006275	NM_006275	NA	Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.434G>A	20.37:g.42088725G>A	ENSP00000244020:p.Arg145Gln	NA	B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	37	CCDS13318.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774272	0.49786	.	.	ENSG00000124193	ENST00000244020	T	0.16324	2.35	6.08	5.14	0.70334	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.044791	0.85682	D	0.000000	T	0.42743	0.1216	M	0.77486	2.375	0.80722	D	1	D;D	0.76494	0.999;0.99	D;P	0.70935	0.971;0.781	T	0.43909	-0.9362	10	0.72032	D	0.01	.	14.3225	0.66496	0.0718:0.0:0.9282:0.0	.	145;145	Q13247;A8K588	SRSF6_HUMAN;.	Q	145	ENSP00000244020:R145Q	ENSP00000244020:R145Q	R	+	2	0	SRSF6	41522139	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	7.859000	0.86982	1.595000	0.50050	-0.229000	0.12294	CGA	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079292.1		+	ENST00000244020.3	Missense_Mutation	SNP	20 : 42088725 - 42088725 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	388	70
SBK1	388228	broad.mit.edu	37	16	28331401	28331401	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28331401G>A	ENST00000341901.4	+	4	1223	c.434G>A	c.(433-435)gGg>gAg	p.G145E		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	145	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						CCGCAGGTGGGGCTCCCTGAG	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													5	7	7			NA	NA	16		NA											NA				28331401		2107	4150	6257	SO:0001583	missense				CCDS32416.1	16p11.2	2013-09-27	2013-09-27			ENSG00000188322	388228	388228			17699	protein-coding gene	gene with protein product			SH3-binding domain kinase 1		NA		Standard	XM_370948	XM_005255315	NA	Approved	Sbk	uc002dpd.3	Q52WX2		ENST00000341901.4:c.434G>A	16.37:g.28331401G>A	ENSP00000343248:p.Gly145Glu	NA		37	CCDS32416.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577179	0.86645	.	.	ENSG00000188322	ENST00000341901	T	0.22336	1.96	4.17	4.17	0.49024	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.46132	0.1377	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.45264	-0.9273	10	0.40728	T	0.16	-27.0193	13.9542	0.64137	0.0:0.0:1.0:0.0	.	145	Q52WX2	SBK1_HUMAN	E	145	ENSP00000343248:G145E	ENSP00000343248:G145E	G	+	2	0	SBK1	28238902	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.561000	0.98142	1.846000	0.53633	0.561000	0.74099	GGG	SBK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387677.1		+	ENST00000341901.4	Missense_Mutation	SNP	16 : 28331401 - 28331401 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	73	18
PTGDS	5730	broad.mit.edu	37	9	139874451	139874451	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139874451G>A	ENST00000371625.3	+	4	459	c.385G>A	c.(385-387)Gcg>Acg	p.A129T	PTGDS_ENST00000224167.2_Missense_Mutation_p.A163T	NM_000954.5	NP_000945.3	P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	129					prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGACCAGTACGCGCTGCTGTA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	88	87			NA	NA	9		NA											NA				139874451		2203	4300	6503	SO:0001583	missense			AA621632	CCDS7019.1	9q34.2-q34.3	2011-11-15	2002-08-29		ENSG00000107317	ENSG00000107317	5730	5730	5.3.99.2	Lipocalins	9592	protein-coding gene	gene with protein product	lipocalin-type prostaglandin D synthase	176803	prostaglandin D2 synthase (21kD, brain)		NA	1902577	Standard	NM_000954	NM_000954	NA	Approved	PGDS, L-PGDS	uc004cke.3	P41222	OTTHUMG00000020957	ENST00000371625.3:c.385G>A	9.37:g.139874451G>A	ENSP00000360687:p.Ala129Thr	NA	B2R727|Q5SQ10|Q7M4P3|Q9UC22|Q9UCC9|Q9UCD9	37	CCDS7019.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	24.7|24.7	4.559762|4.559762	0.86335|0.86335	.|.	.|.	ENSG00000107317|ENSG00000107317	ENST00000224167;ENST00000457950;ENST00000371625|ENST00000446677	T;T;T|.	0.10288|.	2.89;2.89;2.89|.	4.83|4.83	4.83|4.83	0.62350|0.62350	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);|.	0.178344|.	0.39146|.	N|.	0.001446|.	T|T	0.76528|0.76528	0.4000|0.4000	M|M	0.82923|0.82923	2.615|2.615	0.48571|0.48571	D|D	0.99967|0.99967	D|.	0.76494|.	0.999|.	P|.	0.59115|.	0.852|.	T|T	0.78800|0.78800	-0.2062|-0.2062	10|5	0.66056|.	D|.	0.02|.	-0.5952|-0.5952	13.7612|13.7612	0.62968|0.62968	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	129|.	P41222|.	PTGDS_HUMAN|.	T|H	163;163;129|151	ENSP00000224167:A163T;ENSP00000392633:A163T;ENSP00000360687:A129T|.	ENSP00000224167:A163T|.	A|R	+|+	1|2	0|0	PTGDS|PTGDS	138994272|138994272	0.788000|0.788000	0.28762|0.28762	0.114000|0.114000	0.21550|0.21550	0.019000|0.019000	0.09904|0.09904	2.412000|2.412000	0.44609|0.44609	2.391000|2.391000	0.81399|0.81399	0.651000|0.651000	0.88453|0.88453	GCG|CGC	PTGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055188.1		+	ENST00000371625.3	Missense_Mutation	SNP	9 : 139874451 - 139874451 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	872	147
CDC42BPB	9578	broad.mit.edu	37	14	103404690	103404690	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103404690C>T	ENST00000361246.2	-	35	5174	c.4886G>A	c.(4885-4887)cGc>cAc	p.R1629H		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1629					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TGGAGGCTGGCGAGCCAGGTT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	70	67			NA	NA	14		NA											NA				103404690		2203	4300	6503	SO:0001583	missense			AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752	9578	9578			1738	protein-coding gene	gene with protein product		614062	CDC42-binding protein kinase beta (DMPK-like)		NA	10198171	Standard	NM_006035	NM_006035	NA	Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.4886G>A	14.37:g.103404690C>T	ENSP00000355237:p.Arg1629His	NA	Q2L7A5|Q86TJ1|Q9ULU5	37	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225273	0.39300	.	.	ENSG00000198752	ENST00000361246	T	0.65364	-0.15	4.89	4.89	0.63831	.	0.195819	0.45361	D	0.000368	T	0.65471	0.2694	L	0.59436	1.845	0.58432	D	0.999993	D	0.67145	0.996	P	0.48270	0.572	T	0.65129	-0.6243	10	0.29301	T	0.29	.	18.0522	0.89353	0.0:1.0:0.0:0.0	.	1629	Q9Y5S2	MRCKB_HUMAN	H	1629	ENSP00000355237:R1629H	ENSP00000355237:R1629H	R	-	2	0	CDC42BPB	102474443	1.000000	0.71417	0.970000	0.41538	0.148000	0.21650	6.221000	0.72243	2.251000	0.74343	0.561000	0.74099	CGC	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415711.1		-	ENST00000361246.2	Missense_Mutation	SNP	14 : 103404690 - 103404690 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	662	21
MIS18BP1	55320	broad.mit.edu	37	14	45687562	45687562	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45687562T>C	ENST00000310806.4	-	12	3223	c.2765A>G	c.(2764-2766)tAc>tGc	p.Y922C		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	922	SANT.				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						ATTTTCCATGTATTTCCTCTG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	120	121			NA	NA	14		NA											NA				45687562		2203	4300	6503	SO:0001583	missense			AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534	55320	55320			20190	protein-coding gene	gene with protein product	kinetochore null 2 homolog (C. elegans)		chromosome 14 open reading frame 106	C14orf106	NA	17339379, 17199038	Standard		NM_018353	NA	Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2765A>G	14.37:g.45687562T>C	ENSP00000309790:p.Tyr922Cys	NA	D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	37	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	T	15.67	2.901626	0.52227	.	.	ENSG00000129534	ENST00000310806	T	0.57752	0.38	5.53	3.06	0.35304	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.269744	0.43919	D	0.000502	T	0.65770	0.2723	M	0.71581	2.175	0.46376	D	0.99901	D	0.76494	0.999	D	0.76071	0.987	T	0.65809	-0.6078	10	0.87932	D	0	-0.2962	6.319	0.21206	0.1408:0.0806:0.0:0.7786	.	922	Q6P0N0	M18BP_HUMAN	C	922	ENSP00000309790:Y922C	ENSP00000309790:Y922C	Y	-	2	0	MIS18BP1	44757312	0.997000	0.39634	0.779000	0.31741	0.697000	0.40408	2.731000	0.47343	0.895000	0.36342	0.477000	0.44152	TAC	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276795.2		-	ENST00000310806.4	Missense_Mutation	SNP	14 : 45687562 - 45687562 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	595	59
PARP12	64761	broad.mit.edu	37	7	139727113	139727113	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139727113G>A	ENST00000263549.3	-	10	2464	c.1591C>T	c.(1591-1593)Cga>Tga	p.R531*		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	531	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TTCTGTACTCGCTCAATCTTC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	88	91			NA	NA	7		NA											NA				139727113		2203	4300	6503	SO:0001587	stop_gained			AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378	64761	64761		Zinc fingers, CCCH-type domain containing, Poly (ADP-ribose) polymerases	21919	protein-coding gene	gene with protein product		612481	zinc finger CCCH-type domain containing 1	ZC3HDC1	NA	11230166, 12851707	Standard	NM_022750	NM_022750	NA	Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.1591C>T	7.37:g.139727113G>A	ENSP00000263549:p.Arg531*	NA	Q9H610|Q9NP36|Q9NTI3	37	CCDS5857.1	.	.	.	.	.	.	.	.	.	.	G	47	13.537700	0.99748	.	.	ENSG00000059378	ENST00000263549	.	.	.	5.6	3.59	0.41128	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0693	0.59050	0.0:0.0:0.592:0.408	.	.	.	.	X	531	.	ENSP00000263549:R531X	R	-	1	2	PARP12	139373582	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.868000	0.39509	1.335000	0.45486	0.655000	0.94253	CGA	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348413.1		-	ENST00000263549.3	Nonsense_Mutation	SNP	7 : 139727113 - 139727113 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	72
ZNF577	84765	broad.mit.edu	37	19	52376486	52376486	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52376486G>A	ENST00000420592.1	-	6	1913	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W	ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000301399.5_Missense_Mutation_p.R253W|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000451628.2_Missense_Mutation_p.R194W			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CGGCACTTCCGGCTGAAGGCT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	61	63			NA	NA	19		NA											NA				52376486		2203	4300	6503	SO:0001583	missense			AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551	84765	84765		Zinc fingers, C2H2-type, -	28673	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_032679	NM_032679	NA	Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000420592.1:c.580C>T	19.37:g.52376486G>A	ENSP00000413476:p.Arg194Trp	NA	A8K0B4|A8K6Z7|C9JFB9	37	CCDS46160.1	.	.	.	.	.	.	.	.	.	.	.	1.638	-0.517341	0.04171	.	.	ENSG00000161551	ENST00000301399;ENST00000420592;ENST00000451628;ENST00000458390	T;T;T;T	0.07444	3.19;3.19;3.19;3.19	3.1	-3.89	0.04193	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05731	0.0150	M	0.67569	2.06	0.09310	N	1	B;P	0.34837	0.097;0.472	B;B	0.18263	0.007;0.021	T	0.29971	-0.9994	9	0.32370	T	0.25	.	0.3231	0.00306	0.2893:0.1341:0.2085:0.3681	.	253;194	Q9BSK1;Q9BSK1-2	ZN577_HUMAN;.	W	253;194;194;253	ENSP00000301399:R253W;ENSP00000413476:R194W;ENSP00000389652:R194W;ENSP00000404509:R253W	ENSP00000301399:R253W	R	-	1	2	ZNF577	57068298	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-3.151000	0.00582	-0.835000	0.04234	-0.140000	0.14226	CGG	ZNF577-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347246.1		-	ENST00000420592.1	Missense_Mutation	SNP	19 : 52376486 - 52376486 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	246	54
TBC1D5	9779	broad.mit.edu	37	3	17208310	17208310	+	Silent	SNP	G	G	T	rs143757025		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:17208310G>T	ENST00000253692.7	-	21	3707	c.2043C>A	c.(2041-2043)ggC>ggA	p.G681G	TBC1D5_ENST00000429383.4_Silent_p.G681G|TBC1D5_ENST00000446818.2_Silent_p.G703G|TBC1D5_ENST00000414318.2_5'UTR	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	681						intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						CTCGGCCCTGGCCCTGGCCGC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	86	89			NA	NA	3		NA											NA				17208310		2203	4300	6503	SO:0001819	synonymous_variant			D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374	9779	9779			19166	protein-coding gene	gene with protein product		615740			NA	19531583	Standard	NM_014744	NM_014744	NA	Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.2043C>A	3.37:g.17208310G>T		NA	A6NP25	37	CCDS33714.1																																																																																			TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340301.3		-	ENST00000253692.7	Silent	SNP	3 : 17208310 - 17208310 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	419	72
PRLR	5618	broad.mit.edu	37	5	35072836	35072836	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35072836G>A	ENST00000382002.5	-	6	810	c.384C>T	c.(382-384)gaC>gaT	p.D128D	PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000397391.3_Silent_p.D57D|PRLR_ENST00000513753.1_Silent_p.D128D|PRLR_ENST00000342362.5_Silent_p.D27D|PRLR_ENST00000231423.3_Silent_p.D128D|PRLR_ENST00000310101.5_Silent_p.D128D|PRLR_ENST00000511486.1_Silent_p.D27D|PRLR_ENST00000348262.3_Silent_p.D128D|PRLR_ENST00000542609.1_Silent_p.D128D	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	128	Fibronectin type-III 2.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CCAAAGGAGGGTCTGGCTGAA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	92	94			NA	NA	5		NA											NA				35072836		2203	4300	6503	SO:0001819	synonymous_variant				CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494	5618	5618			9446	protein-coding gene	gene with protein product		176761			NA		Standard		NM_001204315	NA	Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.384C>T	5.37:g.35072836G>A		NA	B2R882|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	37	CCDS3909.1																																																																																			PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207575.2		-	ENST00000382002.5	Silent	SNP	5 : 35072836 - 35072836 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	408	67
IQGAP2	10788	broad.mit.edu	37	5	75979000	75979000	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75979000C>T	ENST00000274364.6	+	29	4018	c.3721C>T	c.(3721-3723)Ctg>Ttg	p.L1241L	IQGAP2_ENST00000379730.3_Silent_p.L743L|IQGAP2_ENST00000502745.1_Silent_p.L737L|IQGAP2_ENST00000396234.3_Silent_p.L737L	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1241					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GAGTGAATTGCTGGGGTCGCT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	119	117			NA	NA	5		NA											NA				75979000		2203	4300	6503	SO:0001819	synonymous_variant			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703	10788	10788			6111	protein-coding gene	gene with protein product		605401			NA	8756646	Standard	NM_006633	XM_005248409	NA	Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.3721C>T	5.37:g.75979000C>T		NA	A8K4V1|B7Z8A4	37	CCDS34188.1																																																																																			IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368877.1		+	ENST00000274364.6	Silent	SNP	5 : 75979000 - 75979000 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	519	88
C10orf137	0	broad.mit.edu	37	10	127442353	127442353	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127442353C>T	ENST00000337623.3	+	23	3487	c.3382C>T	c.(3382-3384)Cgg>Tgg	p.R1128W	C10orf137_ENST00000356792.4_Missense_Mutation_p.R1162W	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN		1162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ATTTGAGTCTCGGTTGTCATT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	137	141			NA	NA	10		NA											NA				127442353		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000337623.3:c.3382C>T	10.37:g.127442353C>T	ENSP00000336727:p.Arg1128Trp	NA	B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	37	CCDS7646.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748506	0.69533	.	.	ENSG00000107938	ENST00000356792;ENST00000337623	T;T	0.46451	0.87;0.87	5.06	5.06	0.68205	.	0.054356	0.64402	D	0.000001	T	0.61590	0.2359	M	0.68952	2.095	0.54753	D	0.999982	D;D;D	0.89917	0.999;1.0;0.999	P;D;D	0.70935	0.9;0.971;0.928	T	0.64445	-0.6406	10	0.87932	D	0	.	14.4869	0.67624	0.156:0.844:0.0:0.0	.	1162;509;1128	Q3B7T1;Q5VZQ1;Q3B7T1-5	EDRF1_HUMAN;.;.	W	1162;1128	ENSP00000349244:R1162W;ENSP00000336727:R1128W	ENSP00000336727:R1128W	R	+	1	2	C10orf137	127432343	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	3.843000	0.55865	2.627000	0.88993	0.655000	0.94253	CGG	C10orf137-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050921.3		+	ENST00000337623.3	Missense_Mutation	SNP	10 : 127442353 - 127442353 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	391	67
C1orf43	25912	broad.mit.edu	37	1	154184951	154184951	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154184951C>T	ENST00000368521.5	-	5	688	c.490G>A	c.(490-492)Gcc>Acc	p.A164T	C1orf43_ENST00000350592.3_Missense_Mutation_p.A130T|C1orf43_ENST00000368519.1_Missense_Mutation_p.A146T|C1orf43_ENST00000362076.4_Missense_Mutation_p.A112T|C1orf43_ENST00000368516.1_Missense_Mutation_p.A130T|C1orf43_ENST00000368518.1_Missense_Mutation_p.A164T	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	164						integral to membrane	coenzyme binding|oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					CCATAGCGGGCTGTTTCATAG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	81	82			NA	NA	1		NA											NA				154184951		2203	4300	6503	SO:0001583	missense			AF077036	CCDS1061.1, CCDS1062.1, CCDS41404.1, CCDS72924.1	1q21.2	2012-06-25			ENSG00000143612	ENSG00000143612	25912	25912			29876	protein-coding gene	gene with protein product					NA	11042152, 11230159	Standard	NM_015449	XM_005245077	NA	Approved	NICE-3, DKFZp586G1722	uc001fei.2	Q9BWL3	OTTHUMG00000035981	ENST00000368521.5:c.490G>A	1.37:g.154184951C>T	ENSP00000357507:p.Ala164Thr	NA	A8K3G8|D3DV72|D3DV74|Q5M801|Q5VU73|Q5VU83|Q96HP7|Q9UFU2|Q9UGL7|Q9UGL8|Q9Y2R6	37	CCDS41404.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.239370	0.79800	.	.	ENSG00000143612	ENST00000350592;ENST00000368521;ENST00000362076;ENST00000368519;ENST00000368518;ENST00000368516	.	.	.	5.39	5.39	0.77823	Dehydrogenase, multihelical (1);	0.000000	0.85682	D	0.000000	T	0.76256	0.3962	M	0.80616	2.505	0.80722	D	1	P;P;D;B;P	0.63880	0.801;0.801;0.993;0.361;0.834	B;B;D;B;P	0.63703	0.434;0.434;0.917;0.133;0.57	T	0.78763	-0.2077	9	0.87932	D	0	-17.7958	18.3255	0.90252	0.0:1.0:0.0:0.0	.	146;130;164;112;130	Q9BWL3-5;Q9BWL3-2;Q9BWL3;Q9BWL3-4;Q09GN0	.;.;CA043_HUMAN;.;.	T	130;164;112;146;164;130	.	ENSP00000271925:A130T	A	-	1	0	C1orf43	152451575	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	7.017000	0.76399	2.814000	0.96858	0.585000	0.79938	GCC	C1orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087664.2		-	ENST00000368521.5	Missense_Mutation	SNP	1 : 154184951 - 154184951 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	570	164
ACAN	176	broad.mit.edu	37	15	89400831	89400831	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89400831C>A	ENST00000559004.1	+	12	5073	c.5015C>A	c.(5014-5016)gCc>gAc	p.A1672D	ACAN_ENST00000561243.1_Missense_Mutation_p.A1672D|ACAN_ENST00000439576.2_Missense_Mutation_p.A1672D|ACAN_ENST00000352105.7_Missense_Mutation_p.A1672D			E7EX88	E7EX88_HUMAN	aggrecan	1672					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GTGGTCACAGCCTCCACTGCA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	145	145			NA	NA	15		NA											NA				89400831		1969	4150	6119	SO:0001583	missense			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766	176	176		Immunoglobulin superfamily / V-set domain containing, Proteoglycans / Extracellular Matrix : Hyalectans	319	protein-coding gene	gene with protein product	aggrecan proteoglycan	155760	chondroitin sulfate proteoglycan 1, aggrecan 1	MSK16, CSPG1, AGC1	NA	1985970	Standard	NM_001135	NM_013227	NA	Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000559004.1:c.5015C>A	15.37:g.89400831C>A	ENSP00000453499:p.Ala1672Asp	NA		37		.	.	.	.	.	.	.	.	.	.	C	10.51	1.371721	0.24857	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02606	4.47;4.23	5.86	4.94	0.65067	.	0.532223	0.14184	N	0.335806	T	0.10637	0.0260	M	0.65975	2.015	0.09310	N	0.99999	D;D	0.76494	0.999;0.999	D;D	0.70227	0.968;0.968	T	0.24225	-1.0166	10	0.21014	T	0.42	-14.2096	8.8309	0.35082	0.149:0.7764:0.0:0.0746	.	1672;1672	E7ENV9;E7EX88	.;.	D	1672;1672;1558	ENSP00000387356:A1672D;ENSP00000341615:A1672D	ENSP00000268134:A1558D	A	+	2	0	ACAN	87201835	0.542000	0.26426	0.997000	0.53966	0.880000	0.50808	1.432000	0.34936	1.477000	0.48234	0.655000	0.94253	GCC	ACAN-008	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000418839.1		+	ENST00000559004.1	Missense_Mutation	SNP	15 : 89400831 - 89400831 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	791	121
CDC7	8317	broad.mit.edu	37	1	91967338	91967338	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91967338T>C	ENST00000428239.1	+	2	324	c.65T>C	c.(64-66)tTt>tCt	p.F22S	CDC7_ENST00000497611.1_3'UTR|CDC7_ENST00000430031.2_Missense_Mutation_p.F22S|CDC7_ENST00000234626.6_Missense_Mutation_p.F22S	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	22					cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		CGTGACCGGTTTCAGGCTGAA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	127	124			NA	NA	1		NA											NA				91967338		2203	4300	6503	SO:0001583	missense			AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046	8317	8317			1745	protein-coding gene	gene with protein product		603311	CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1, CDC7 cell division cycle 7 (S. cerevisiae), cell division cycle 7 (S. cerevisiae), cell division cycle 7 homolog (S. cerevisiae)	CDC7L1	NA	9405610, 9250678	Standard	NM_003503	NM_003503	NA	Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.65T>C	1.37:g.91967338T>C	ENSP00000393139:p.Phe22Ser	NA	D3DT31|O00558|Q5T5U5	37	CCDS734.1	.	.	.	.	.	.	.	.	.	.	T	7.648	0.682364	0.14907	.	.	ENSG00000097046	ENST00000430031;ENST00000234626;ENST00000428239;ENST00000426137	T;T;T;T	0.49432	0.78;1.01;1.01;2.02	5.42	1.72	0.24424	.	1.624430	0.02734	N	0.115407	T	0.07413	0.0187	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.10405	-1.0631	10	0.22109	T	0.4	-3.2262	2.6492	0.04994	0.1226:0.1499:0.1202:0.6073	.	22;22	B7Z5H7;O00311	.;CDC7_HUMAN	S	22	ENSP00000407477:F22S;ENSP00000234626:F22S;ENSP00000393139:F22S;ENSP00000398077:F22S	ENSP00000234626:F22S	F	+	2	0	CDC7	91739926	0.001000	0.12720	0.151000	0.22473	0.612000	0.37316	0.256000	0.18351	-0.131000	0.11578	-1.431000	0.01090	TTT	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000027928.1		+	ENST00000428239.1	Missense_Mutation	SNP	1 : 91967338 - 91967338 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	712	84
TMEM173	340061	broad.mit.edu	37	5	138860412	138860412	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138860412C>T	ENST00000330794.4	-	5	816	c.483G>A	c.(481-483)tgG>tgA	p.W161*	TMEM173_ENST00000511850.1_5'UTR	NM_198282.2	NP_938023.1	Q86WV6	TM173_HUMAN	transmembrane protein 173	161					activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGTAATATGACCATGCCAGCC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	67	69			NA	NA	5		NA											NA				138860412		2203	4300	6503	SO:0001587	stop_gained				CCDS4215.1	5q31.2	2009-11-06			ENSG00000184584	ENSG00000184584	340061	340061			27962	protein-coding gene	gene with protein product		612374			NA	12477932	Standard	NM_198282	XM_005268445	NA	Approved	FLJ38577, NET23	uc003lep.3	Q86WV6	OTTHUMG00000129239	ENST00000330794.4:c.483G>A	5.37:g.138860412C>T	ENSP00000331288:p.Trp161*	NA	A8K3P6|B6EB35|D6RBX0|D6RE01|D6RID9	37	CCDS4215.1	.	.	.	.	.	.	.	.	.	.	C	36	5.777147	0.96929	.	.	ENSG00000184584	ENST00000330794;ENST00000510817	.	.	.	4.56	4.56	0.56223	.	0.071294	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.2374	17.106	0.86663	0.0:1.0:0.0:0.0	.	.	.	.	X	161	.	ENSP00000331288:W161X	W	-	3	0	TMEM173	138840596	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	5.888000	0.69758	2.363000	0.80096	0.561000	0.74099	TGG	TMEM173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251338.1		-	ENST00000330794.4	Nonsense_Mutation	SNP	5 : 138860412 - 138860412 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	208	39
WBP2	23558	broad.mit.edu	37	17	73844721	73844721	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73844721G>A	ENST00000433525.2	-	4	364	c.327C>T	c.(325-327)tcC>tcT	p.S109S	WBP2_ENST00000585462.1_Silent_p.S87S|WBP2_ENST00000344296.4_Silent_p.S87S|WBP2_ENST00000590221.1_Silent_p.S109S|WBP2_ENST00000591399.1_Silent_p.S109S|WBP2_ENST00000254806.3_Silent_p.S109S			Q969T9	WBP2_HUMAN	WW domain binding protein 2	109							protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7			all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCAACTTGTAGGAAGCAGAGC	0.517		NA									OREG0024743	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	46	48			NA	NA	17		NA											NA				73844721		2203	4300	6503	SO:0001819	synonymous_variant			U79458	CCDS11731.1	17q25	2008-02-01				ENSG00000132471	23558	23558			12738	protein-coding gene	gene with protein product		606962			NA	7644498	Standard	NM_012478	NM_012478	NA	Approved	WBP-2	uc002jps.3	Q969T9		ENST00000433525.2:c.327C>T	17.37:g.73844721G>A		1148	O95638	37																																																																																				WBP2-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000448868.1		-	ENST00000433525.2	Silent	SNP	17 : 73844721 - 73844721 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	158	23
ZBTB21	49854	broad.mit.edu	37	21	43411317	43411317	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43411317G>A	ENST00000398505.3	-	4	2468	c.2285C>T	c.(2284-2286)gCt>gTt	p.A762V	ZBTB21_ENST00000398511.3_Missense_Mutation_p.A963V|ZBTB21_ENST00000398499.1_Missense_Mutation_p.A963V|ZBTB21_ENST00000310826.5_Missense_Mutation_p.A963V	NM_001098403.1	NP_001091873.1			zinc finger and BTB domain containing 21	NA											NA						TTCCTCTGAAGCCTGAGACAT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	83	83			NA	NA	21		NA											NA				43411317		2203	4300	6503	SO:0001583	missense			AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276	49854	49854		-, BTB/POZ domain containing, Zinc fingers, C2H2-type	13083	protein-coding gene	gene with protein product			zinc finger protein 295	ZNF295	NA		Standard	NM_020727	NM_020727	NA	Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000398505.3:c.2285C>T	21.37:g.43411317G>A	ENSP00000381517:p.Ala762Val	NA		37	CCDS42934.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.771546	0.31320	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.08008	3.4;3.14;3.14;3.14	5.5	5.5	0.81552	Zinc finger, C2H2 (1);	0.163245	0.41712	D	0.000835	T	0.06645	0.0170	N	0.19112	0.55	0.26484	N	0.97506	B;B	0.32753	0.383;0.062	B;B	0.29716	0.106;0.011	T	0.31081	-0.9956	10	0.41790	T	0.15	-12.3294	14.2718	0.66155	0.0:0.0:0.8512:0.1488	.	762;963	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	V	762;963;963;963	ENSP00000381517:A762V;ENSP00000308759:A963V;ENSP00000381512:A963V;ENSP00000381523:A963V	ENSP00000308759:A963V	A	-	2	0	ZNF295	42284386	1.000000	0.71417	0.923000	0.36655	0.867000	0.49689	6.072000	0.71238	2.593000	0.87608	0.655000	0.94253	GCT	ZBTB21-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195307.1		-	ENST00000398505.3	Missense_Mutation	SNP	21 : 43411317 - 43411317 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	507	50
DDX28	55794	broad.mit.edu	37	16	68055940	68055940	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68055940T>C	ENST00000332395.5	-	1	1830	c.1166A>G	c.(1165-1167)gAc>gGc	p.D389G		NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	389	Helicase C-terminal.					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		TTCTGCTCTGTCACGATGCTT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	95	101			NA	NA	16		NA											NA				68055940		2198	4300	6498	SO:0001583	missense			AF329821	CCDS10858.1	16q22.1-q22.3	2008-02-05	2003-06-13		ENSG00000182810	ENSG00000182810	55794	55794		DEAD-boxes	17330	protein-coding gene	gene with protein product		607618	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 28		NA	10493829, 11350955	Standard	NM_018380	NM_018380	NA	Approved	MDDX28, FLJ11282	uc002evh.2	Q9NUL7	OTTHUMG00000137549	ENST00000332395.5:c.1166A>G	16.37:g.68055940T>C	ENSP00000332340:p.Asp389Gly	NA		37	CCDS10858.1	.	.	.	.	.	.	.	.	.	.	T	1.152	-0.646409	0.03531	.	.	ENSG00000182810	ENST00000332395	T	0.71103	-0.54	5.28	1.61	0.23674	Helicase, C-terminal (1);	0.597438	0.18393	N	0.142606	T	0.44307	0.1287	N	0.11341	0.13	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19679	-1.0298	10	0.33141	T	0.24	-10.4312	4.0144	0.09637	0.0:0.1847:0.1799:0.6354	.	389	Q9NUL7	DDX28_HUMAN	G	389	ENSP00000332340:D389G	ENSP00000332340:D389G	D	-	2	0	DDX28	66613441	0.000000	0.05858	0.054000	0.19295	0.004000	0.04260	0.787000	0.26858	0.535000	0.28714	-0.256000	0.11100	GAC	DDX28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268883.1		-	ENST00000332395.5	Missense_Mutation	SNP	16 : 68055940 - 68055940 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	448	84
AGAP4	119016	broad.mit.edu	37	10	46322028	46322028	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46322028C>T	ENST00000448048.2	-	7	1452	c.1327G>A	c.(1327-1329)Gcc>Acc	p.A443T		NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	443	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			central_nervous_system(1)|lung(1)|ovary(1)	3						GACTGCAGGGCCATGGCCTTG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	18	18			NA	NA	10		NA											NA				46322028		1954	3781	5735	SO:0001583	missense			AF411132	CCDS7215.1	10q11.21	2014-06-19	2008-09-22	2008-09-22	ENSG00000188234	ENSG00000188234	119016	119016		ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing	23459	protein-coding gene	gene with protein product			centaurin, gamma-like family, member 1, ArfGAP with GTPase domain, ankyrin repeat and PH domain 8, centaurin, gamma-like family, member 5	CTGLF1, AGAP8, CTGLF5	NA	12477932	Standard	NM_133446	XM_005271797	NA	Approved	Em:AC012044.1, MRIP2	uc001jcx.4	Q96P64	OTTHUMG00000018088	ENST00000448048.2:c.1327G>A	10.37:g.46322028C>T	ENSP00000392513:p.Ala443Thr	NA		37	CCDS7215.1	.	.	.	.	.	.	.	.	.	.	c	14.57	2.575236	0.45902	.	.	ENSG00000188234	ENST00000448048;ENST00000342551	T	0.44482	0.92	.	.	.	.	0.125014	0.52532	D	0.000062	T	0.54319	0.1851	M	0.69463	2.115	0.41499	D	0.988276	D;P;D	0.76494	0.999;0.588;0.999	D;P;D	0.91635	0.998;0.573;0.999	T	0.50320	-0.8842	9	0.51188	T	0.08	.	5.89	0.18904	0.0:0.9992:0.0:8.0E-4	.	466;511;443	C9JRW4;Q5VTM2;Q96P64	.;AGAP9_HUMAN;AGAP4_HUMAN	T	443;219	ENSP00000392513:A443T	ENSP00000343438:A219T	A	-	1	0	AGAP4	45642034	1.000000	0.71417	0.031000	0.17742	0.032000	0.12392	5.212000	0.65225	0.107000	0.17824	0.109000	0.15622	GCC	AGAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047799.1		-	ENST00000448048.2	Missense_Mutation	SNP	10 : 46322028 - 46322028 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	790	104
HAUS5	23354	broad.mit.edu	37	19	36109545	36109545	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36109545G>A	ENST00000203166.5	+	12	985	c.960G>A	c.(958-960)caG>caA	p.Q320Q	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	320					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						TCTTGACCCAGCGCCTCCAGG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	60	58			NA	NA	19		NA											NA				36109545		1995	4148	6143	SO:0001819	synonymous_variant			AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115	23354	23354		HAUS augmin-like complex subunits	29130	protein-coding gene	gene with protein product		613432	KIAA0841	KIAA0841	NA	10048485, 19427217	Standard		NM_015302	NA	Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.960G>A	19.37:g.36109545G>A		NA	B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	37	CCDS42550.1																																																																																			HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459055.2		+	ENST00000203166.5	Silent	SNP	19 : 36109545 - 36109545 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	419	74
CDC73	79577	broad.mit.edu	37	1	193104572	193104572	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:193104572G>A	ENST00000367435.3	+	4	543	c.359G>A	c.(358-360)cGa>cAa	p.R120Q		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	120					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						GGTCTTCAGCGATCTACTCAA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	95	97			NA	NA	1		NA											NA				193104572		2203	4300	6503	SO:0001583	missense			AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371	79577	79577			16783	protein-coding gene	gene with protein product	Paf1/RNA polymerase II complex component	607393	chromosome 1 open reading frame 28, hyperparathyroidism 2 (with jaw tumor), cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae), hyperparathyroidism 1	C1orf28, HRPT2, HRPT1	NA	11318611, 15632063, 18755853	Standard	NM_024529	NM_024529	NA	Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.359G>A	1.37:g.193104572G>A	ENSP00000356405:p.Arg120Gln	NA	A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	37	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679579	0.68042	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	D	0.84730	-1.89	5.7	4.79	0.61399	.	0.000000	0.64402	D	0.000001	T	0.76076	0.3937	L	0.43152	1.355	0.54753	D	0.999987	P	0.50443	0.935	B	0.34722	0.188	T	0.74343	-0.3696	10	0.18276	T	0.48	-10.1528	14.6786	0.69001	0.0697:0.0:0.9303:0.0	.	120	Q6P1J9	CDC73_HUMAN	Q	120	ENSP00000356405:R120Q	ENSP00000356405:R120Q	R	+	2	0	CDC73	191371195	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	1.406000	0.46857	0.650000	0.86243	CGA	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086696.2		+	ENST00000367435.3	Missense_Mutation	SNP	1 : 193104572 - 193104572 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	460	120
NASP	4678	broad.mit.edu	37	1	46083795	46083795	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46083795T>C	ENST00000350030.3	+	15	2436	c.2349T>C	c.(2347-2349)gtT>gtC	p.V783V	NASP_ENST00000351223.3_Silent_p.V444V|NASP_ENST00000402363.3_Silent_p.V785V|NASP_ENST00000537798.1_Silent_p.V719V|NASP_ENST00000372052.4_Silent_p.V417V|NASP_ENST00000530073.1_3'UTR	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	783					blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GAGCTACAGTTGAAAGCACTG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	38	38			NA	NA	1		NA											NA				46083795		2203	4299	6502	SO:0001819	synonymous_variant			M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780	4678	4678		Tetratricopeptide (TTC) repeat domain containing	7644	protein-coding gene	gene with protein product		603185			NA	1426632	Standard	NM_002482	NM_002482	NA	Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.2349T>C	1.37:g.46083795T>C		NA	A8K6H2|D3DQ07|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	37	CCDS524.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.621|9.621	1.133752|1.133752	0.21123|0.21123	.|.	.|.	ENSG00000132780|ENSG00000132780	ENST00000531612|ENST00000534450	.|.	.|.	.|.	5.27|5.27	2.62|2.62	0.31277|0.31277	.|.	.|.	.|.	.|.	.|.	T|.	0.54013|.	0.1832|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.48007|.	-0.9072|.	4|.	.|.	.|.	.|.	-2.7206|-2.7206	5.8944|5.8944	0.18931|0.18931	0.1872:0.0834:0.0:0.7294|0.1872:0.0834:0.0:0.7294	.|.	.|.	.|.	.|.	S|R	283|170	.|.	.|.	L|X	+|+	2|1	0|0	NASP|NASP	45856382|45856382	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.149000|1.149000	0.31626|0.31626	0.954000|0.954000	0.37851|0.37851	0.460000|0.460000	0.39030|0.39030	TTG|TGA	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021533.2		+	ENST00000350030.3	Silent	SNP	1 : 46083795 - 46083795 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	52	12
HSPBAP1	79663	broad.mit.edu	37	3	122459627	122459627	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122459627G>T	ENST00000306103.2	-	8	1175	c.1032C>A	c.(1030-1032)atC>atA	p.I344I	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	344						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		TCAGTGCTTGGATTTCTACTA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													173	163	166			NA	NA	3		NA											NA				122459627		2203	4300	6503	SO:0001819	synonymous_variant			AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087	79663	79663			16389	protein-coding gene	gene with protein product		608263	HSPB (heat shock 27kD) associated protein 1		NA	11978969	Standard	NM_024610	NM_024610	NA	Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.1032C>A	3.37:g.122459627G>T		NA	Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	37	CCDS3017.1																																																																																			HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356161.1		-	ENST00000306103.2	Silent	SNP	3 : 122459627 - 122459627 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	745	148
GRM6	2916	broad.mit.edu	37	5	178413655	178413655	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178413655C>T	ENST00000517717.1	-	9	1638	c.1600G>A	c.(1600-1602)Gtc>Atc	p.V534I	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.V534I			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	534					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CAGCAGGGGACGCCCTTCACC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	38	40			NA	NA	5		NA											NA				178413655		2203	4299	6502	SO:0001583	missense			U82083	CCDS4442.1	5q35	2014-01-28					2916	2916		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4598	protein-coding gene	gene with protein product		604096			NA	9215706	Standard		NM_000843	NA	Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1600G>A	5.37:g.178413655C>T	ENSP00000430767:p.Val534Ile	NA		37	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.340760	0.60963	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.89552	-2.53;-2.53	4.63	4.63	0.57726	GPCR, family 3, nine cysteines domain (1);	.	.	.	.	D	0.89649	0.6776	N	0.20685	0.6	0.49798	D	0.999821	D;B	0.67145	0.996;0.11	D;B	0.76071	0.987;0.022	D	0.90627	0.4564	9	0.51188	T	0.08	.	15.3541	0.74415	0.0:1.0:0.0:0.0	.	690;534	E7EX65;O15303	.;GRM6_HUMAN	I	690;534;534	ENSP00000231188:V534I;ENSP00000430767:V534I	ENSP00000231188:V534I	V	-	1	0	GRM6	178346261	0.998000	0.40836	0.987000	0.45799	0.878000	0.50629	3.974000	0.56852	2.281000	0.76405	0.462000	0.41574	GTC	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253474.2		-	ENST00000517717.1	Missense_Mutation	SNP	5 : 178413655 - 178413655 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	440	106
LRP1B	53353	broad.mit.edu	37	2	141526881	141526881	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141526881C>T	ENST00000389484.3	-	35	6630	c.5659G>A	c.(5659-5661)Gaa>Aaa	p.E1887K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1887					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGATTCCTTCATGAACAGAG	0.403		NA								TSP Lung(27;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(99;50 2074 2507 20106)							NA				0													77	75	75			NA	NA	2		NA											NA				141526881		2203	4300	6503	SO:0001583	missense			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702	53353	53353		Low density lipoprotein receptors	6693	protein-coding gene	gene with protein product	LRP-deleted in tumors	608766			NA	10766186	Standard	NM_018557	NM_018557	NA	Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5659G>A	2.37:g.141526881C>T	ENSP00000374135:p.Glu1887Lys	NA	Q8WY29|Q8WY30|Q8WY31	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775521	0.90195	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90788	-2.73	5.59	5.59	0.84812	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.91798	0.7405	L	0.33485	1.01	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.87270	0.2285	10	0.08381	T	0.77	.	19.5947	0.95530	0.0:1.0:0.0:0.0	.	1887	Q9NZR2	LRP1B_HUMAN	K	1887;1825	ENSP00000374135:E1887K	ENSP00000374135:E1887K	E	-	1	0	LRP1B	141243351	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.640000	0.83355	2.636000	0.89361	0.655000	0.94253	GAA	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254736.2		-	ENST00000389484.3	Missense_Mutation	SNP	2 : 141526881 - 141526881 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	256	27
TTYH2	94015	broad.mit.edu	37	17	72239532	72239532	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72239532C>T	ENST00000269346.4	+	5	729	c.655C>T	c.(655-657)Ctc>Ttc	p.L219F	TTYH2_ENST00000534346.1_3'UTR|TTYH2_ENST00000529107.1_Missense_Mutation_p.L198F	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	219						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CTACCTCCTGCTCTTTATCCT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													238	178	198			NA	NA	17		NA											NA				72239532		2203	4300	6503	SO:0001583	missense				CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540	94015	94015			13877	protein-coding gene	gene with protein product		608855	tweety (Drosophila) homolog 2, tweety homolog 2 (Drosophila)		NA	11597145	Standard		XM_005257824	NA	Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.655C>T	17.37:g.72239532C>T	ENSP00000269346:p.Leu219Phe	NA	B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	37	CCDS32717.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489369	0.44249	.	.	ENSG00000141540	ENST00000269346;ENST00000529107	T;T	0.17370	2.28;2.28	5.25	2.17	0.27698	.	0.127696	0.53938	N	0.000052	T	0.27524	0.0676	M	0.88450	2.955	0.80722	D	1	P;P	0.45634	0.752;0.863	B;P	0.45506	0.393;0.483	T	0.03068	-1.1076	10	0.66056	D	0.02	-10.2815	5.8943	0.18931	0.1365:0.6405:0.0:0.223	.	198;219	B4DKD1;Q9BSA4	.;TTYH2_HUMAN	F	219;198	ENSP00000269346:L219F;ENSP00000433089:L198F	ENSP00000269346:L219F	L	+	1	0	TTYH2	69751127	1.000000	0.71417	0.913000	0.36048	0.929000	0.56500	2.743000	0.47442	0.230000	0.21059	-0.181000	0.13052	CTC	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387459.1		+	ENST00000269346.4	Missense_Mutation	SNP	17 : 72239532 - 72239532 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	593	116
OLFML2A	169611	broad.mit.edu	37	9	127572610	127572610	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127572610C>T	ENST00000373580.3	+	8	1878	c.1878C>T	c.(1876-1878)atC>atT	p.I626I	OLFML2A_ENST00000288815.5_Silent_p.I412I	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	626	Olfactomedin-like.									endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CCACCCAGATCGACTACAACC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	117	127			NA	NA	9		NA											NA				127572610		2203	4300	6503	SO:0001819	synonymous_variant			AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585	169611	169611			27270	protein-coding gene	gene with protein product		615899			NA	12477932	Standard	NM_182487	NM_001282715	NA	Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.1878C>T	9.37:g.127572610C>T		NA	Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	37	CCDS6857.2																																																																																			OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054046.2		+	ENST00000373580.3	Silent	SNP	9 : 127572610 - 127572610 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	399	60
GOLGA2	2801	broad.mit.edu	37	9	131022956	131022956	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131022956C>A	ENST00000421699.2	-	17	1477	c.1465G>T	c.(1465-1467)Gac>Tac	p.D489Y	GOLGA2_ENST00000609374.1_Missense_Mutation_p.D477Y	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	489						Golgi cisterna membrane	protein binding	p.D477N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CCCTCATTGTCTTGCACCTGG	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	ovary(1)											39	44	42			NA	NA	9		NA											NA				131022956		2203	4300	6503	SO:0001583	missense			L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110	2801	2801			4425	protein-coding gene	gene with protein product	Golgi matrix protein GM130, SY11 protein	602580	golgi autoantigen, golgin subfamily a, 2		NA	8315394	Standard	NM_004486	NM_004486	NA	Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.1465G>T	9.37:g.131022956C>A	ENSP00000416097:p.Asp489Tyr	NA	Q6GRM9|Q9BRB0|Q9NYF9	37	CCDS6896.2	.	.	.	.	.	.	.	.	.	.	c	22.0	4.225784	0.79576	.	.	ENSG00000167110	ENST00000421699	T	0.32272	1.46	5.3	4.41	0.53225	.	0.097640	0.64402	D	0.000002	T	0.52677	0.1749	M	0.66506	2.035	0.58432	D	0.999998	D	0.89917	1.0	D	0.78314	0.991	T	0.56469	-0.7974	10	0.72032	D	0.01	.	13.5747	0.61866	0.0:0.9252:0.0:0.0748	.	489	Q08379	GOGA2_HUMAN	Y	489	ENSP00000416097:D489Y	ENSP00000416097:D489Y	D	-	1	0	GOLGA2	130062777	1.000000	0.71417	0.162000	0.22713	0.972000	0.66771	5.748000	0.68697	1.238000	0.43771	0.305000	0.20034	GAC	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054358.2		-	ENST00000421699.2	Missense_Mutation	SNP	9 : 131022956 - 131022956 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	578	120
APC	324	broad.mit.edu	37	5	112176129	112176129	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112176129C>A	ENST00000457016.1	+	16	5218	c.4838C>A	c.(4837-4839)cCt>cAt	p.P1613H	APC_ENST00000508376.2_Missense_Mutation_p.P1613H|APC_ENST00000257430.4_Missense_Mutation_p.P1613H|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1613	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGTCAGCTGCCTGTGTACAAA	0.463		12	D, Mis, N, F, S		colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS	colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		E, M, O	2	Unknown(1)|Deletion - Frameshift(1)	soft_tissue(1)|skin(1)											130	134	132			NA	NA	5		NA											NA				112176129		2202	4300	6502	SO:0001583	missense	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982	324	324		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Armadillo repeat containing	583	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 46	611731	adenomatosis polyposis coli		NA	1651563	Standard	NM_000038	NM_001127511	NA	Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4838C>A	5.37:g.112176129C>A	ENSP00000413133:p.Pro1613His	NA	D3DT03|Q15162|Q15163|Q93042	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.117024	0.77323	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.95853	-3.83;-3.83;-3.83	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.95921	0.8672	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.94606	0.7800	9	.	.	.	-19.7075	20.8598	0.99761	0.0:1.0:0.0:0.0	.	1615;1613	Q4LE70;P25054	.;APC_HUMAN	H	1613	ENSP00000413133:P1613H;ENSP00000257430:P1613H;ENSP00000427089:P1613H	.	P	+	2	0	APC	112204028	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	CCT	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250738.2		+	ENST00000457016.1	Missense_Mutation	SNP	5 : 112176129 - 112176129 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1084	108
LRP5	4041	broad.mit.edu	37	11	68153814	68153814	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68153814G>A	ENST00000294304.7	+	6	1152	c.1046G>A	c.(1045-1047)cGg>cAg	p.R349Q		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	349	Beta-propeller 2.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGGCCCGGCGGACGGACCTA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	38	41			NA	NA	11		NA											NA				68153814		2200	4294	6494	SO:0001583	missense			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337	4041	4041		Low density lipoprotein receptors	6697	protein-coding gene	gene with protein product		603506	osteoporosis pseudoglioma syndrome, exudative vitreoretinopathy 1	LRP7, OPPG, EVR1	NA	9714764, 10049586	Standard	NM_002335	XM_005273994	NA	Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.1046G>A	11.37:g.68153814G>A	ENSP00000294304:p.Arg349Gln	NA	Q96TD6|Q9UP66	37	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	G	34	5.338204	0.95758	.	.	ENSG00000162337	ENST00000294304	D	0.91464	-2.85	3.81	3.81	0.43845	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.45361	U	0.000362	D	0.94742	0.8303	M	0.79123	2.44	0.58432	D	0.999999	D	0.89917	1.0	D	0.74023	0.982	D	0.94779	0.7952	10	0.48119	T	0.1	.	16.3309	0.83014	0.0:0.0:1.0:0.0	.	349	O75197	LRP5_HUMAN	Q	349	ENSP00000294304:R349Q	ENSP00000294304:R349Q	R	+	2	0	LRP5	67910390	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.238000	0.95380	2.177000	0.69029	0.449000	0.29647	CGG	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395088.1		+	ENST00000294304.7	Missense_Mutation	SNP	11 : 68153814 - 68153814 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	318	14
SGSM3	27352	broad.mit.edu	37	22	40803436	40803436	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40803436G>T	ENST00000248929.9	+	13	1577	c.1388G>T	c.(1387-1389)aGc>aTc	p.S463I	SGSM3_ENST00000454798.2_Missense_Mutation_p.S396I	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	463					cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						CCAGACTATAGCATGGAGAGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	32	31			NA	NA	22		NA											NA				40803436		2202	4300	6502	SO:0001583	missense			AL022238	CCDS14002.1	22q13.1-q13.2	2013-07-09	2007-08-14	2007-08-14	ENSG00000100359	ENSG00000100359	27352	27352		Small G protein signaling modulators	25228	protein-coding gene	gene with protein product	RUN and SH3 containing 3	610440	RUN and TBC1 domain containing 3	RUTBC3	NA	11214971, 17509819	Standard	NM_015705	XM_005261572	NA	Approved	DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5	uc003ayu.1	Q96HU1	OTTHUMG00000151141	ENST00000248929.9:c.1388G>T	22.37:g.40803436G>T	ENSP00000248929:p.Ser463Ile	NA	B0QY79|Q7Z709|Q9NT69	37	CCDS14002.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.156447	0.78114	.	.	ENSG00000100359	ENST00000248929;ENST00000454798	T;T	0.17054	2.42;2.3	5.47	4.42	0.53409	.	0.366542	0.33075	N	0.005301	T	0.36468	0.0968	M	0.69358	2.11	0.53688	D	0.999976	P;B;P;P	0.48911	0.644;0.415;0.917;0.899	B;B;P;P	0.58873	0.426;0.426;0.847;0.703	T	0.11421	-1.0588	10	0.87932	D	0	.	15.1679	0.72842	0.0:0.2691:0.7309:0.0	.	400;396;491;463	B4DVE3;B4DMS2;Q96HU1-2;Q96HU1	.;.;.;SGSM3_HUMAN	I	463;396	ENSP00000248929:S463I;ENSP00000390998:S396I	ENSP00000248929:S463I	S	+	2	0	SGSM3	39133382	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	4.255000	0.58804	2.582000	0.87167	0.555000	0.69702	AGC	SGSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321504.2		+	ENST00000248929.9	Missense_Mutation	SNP	22 : 40803436 - 40803436 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	325	62
ARF4	378	broad.mit.edu	37	3	57561333	57561333	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57561333G>T	ENST00000496292.1	-	4	501	c.317C>A	c.(316-318)gCt>gAt	p.A106D	ARF4_ENST00000489843.1_Missense_Mutation_p.A24D|ARF4_ENST00000303436.6_Missense_Mutation_p.A133D			P18085	ARF4_HUMAN	ADP-ribosylation factor 4	133					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus	GTP binding|GTPase activity			large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561)		GATGGCCATAGCATTTGGCAA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	105	108			NA	NA	3		NA											NA				57561333		2203	4300	6503	SO:0001583	missense			M36341	CCDS2884.1	3p21.2-p21.1	2007-03-19			ENSG00000168374	ENSG00000168374	378	378		ADP-ribosylation factors	655	protein-coding gene	gene with protein product		601177	ADP-ribosylation factor 2	ARF2	NA	2107548	Standard	NM_001660	NM_001660	NA	Approved		uc003dix.4	P18085	OTTHUMG00000158601	ENST00000496292.1:c.317C>A	3.37:g.57561333G>T	ENSP00000417501:p.Ala106Asp	NA	B2R7J7|P21371	37		.	.	.	.	.	.	.	.	.	.	G	36	5.608893	0.96637	.	.	ENSG00000168374	ENST00000303436;ENST00000496292	T;T	0.69435	-0.4;-0.4	6.02	6.02	0.97574	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90916	0.7145	H	0.99525	4.61	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.977	D	0.94091	0.7353	10	0.87932	D	0	-11.9416	20.5269	0.99230	0.0:0.0:1.0:0.0	.	106;133	C9JAK5;P18085	.;ARF4_HUMAN	D	133;106	ENSP00000306010:A133D;ENSP00000417501:A106D	ENSP00000306010:A133D	A	-	2	0	ARF4	57536373	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.770000	0.98971	2.859000	0.98148	0.591000	0.81541	GCT	ARF4-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000351446.1		-	ENST00000496292.1	Missense_Mutation	SNP	3 : 57561333 - 57561333 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	394	70
MDK	4192	broad.mit.edu	37	11	46404188	46404188	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46404188G>A	ENST00000405308.2	+	4	725	c.296G>A	c.(295-297)gGc>gAc	p.G99D	MDK_ENST00000533283.1_3'UTR|MDK_ENST00000395566.4_Missense_Mutation_p.G99D|MDK_ENST00000395569.4_Missense_Mutation_p.G43D|MDK_ENST00000395565.1_Missense_Mutation_p.G99D|MDK_ENST00000407067.1_Missense_Mutation_p.G99D|MDK_ENST00000359803.3_Missense_Mutation_p.G99D	NM_001270550.1	NP_001257479.1	P21741	MK_HUMAN	midkine (neurite growth-promoting factor 2)	99					adrenal gland development|cell differentiation|nervous system development|positive regulation of cell division|response to wounding|signal transduction	extracellular region	growth factor activity|heparin binding			lung(1)	1				GBM - Glioblastoma multiforme(35;0.0252)|Lung(87;0.14)		GGGGGCACAGGCACCAAAGTC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	43	47			NA	NA	11		NA											NA				46404188		2201	4298	6499	SO:0001583	missense				CCDS7919.1, CCDS59226.1	11p11.2	2008-07-18			ENSG00000110492	ENSG00000110492	4192	4192			6972	protein-coding gene	gene with protein product		162096		NEGF2	NA	8406506	Standard	NM_001012334	NM_002391	NA	Approved	MK, FLJ27379	uc001nco.4	P21741	OTTHUMG00000150315	ENST00000405308.2:c.296G>A	11.37:g.46404188G>A	ENSP00000385451:p.Gly99Asp	NA	Q9UCC7	37	CCDS7919.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709696	0.89018	.	.	ENSG00000110492	ENST00000405308;ENST00000405994;ENST00000359803;ENST00000533952;ENST00000395569;ENST00000395566;ENST00000407067;ENST00000395565	.	.	.	4.83	4.83	0.62350	Midkine heparin-binding growth factor, N-terminal (1);Midkine heparin-binding growth factor, C-terminal (2);Midkine heparin-binding growth factor, disulphide-rich domain (1);	.	.	.	.	T	0.79488	0.4454	M	0.75264	2.295	0.47276	D	0.999377	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79108	0.971;0.992;0.989	T	0.81667	-0.0829	8	0.72032	D	0.01	.	18.4742	0.90786	0.0:0.0:1.0:0.0	.	43;99;99	Q2LEK4;E9PLM6;P21741	.;.;MK_HUMAN	D	99;99;99;99;43;99;99;99	.	ENSP00000352852:G99D	G	+	2	0	MDK	46360764	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	2.946000	0.49050	2.686000	0.91538	0.650000	0.86243	GGC	MDK-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317546.2		+	ENST00000405308.2	Missense_Mutation	SNP	11 : 46404188 - 46404188 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	148	37
ZC3H18	124245	broad.mit.edu	37	16	88688650	88688650	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88688650G>A	ENST00000301011.5	+	9	1721	c.1521G>A	c.(1519-1521)ccG>ccA	p.P507P	ZC3H18_ENST00000452588.2_Silent_p.P531P	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	507						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCACGGGGCCGCAGGTGAAGA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(121;375 2276 20373 38669)							NA				0								G		0,4396		0,0,2198	50	52	52		1521	-11.3	0.1	16		52	1,8599		0,1,4299	no	coding-synonymous	ZC3H18	NM_144604.3		0,1,6497	AA,AG,GG	NA	0.0116,0.0,0.0077		507/954	88688650	1,12995	2198	4300	6498	SO:0001819	synonymous_variant			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545	124245	124245		Zinc fingers, CCCH-type domain containing	25091	protein-coding gene	gene with protein product					NA	17579712	Standard	NM_144604	NM_144604	NA	Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1521G>A	16.37:g.88688650G>A		NA	Q96DG4|Q96MP7	37	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	G	2.574	-0.298990	0.05532	0.0	1.16E-4	ENSG00000158545	ENST00000545404	.	.	.	5.64	-11.3	0.00108	.	.	.	.	.	T	0.49779	0.1577	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69412	-0.5152	5	0.87932	D	0	-20.3562	3.7808	0.08680	0.3389:0.2888:0.2899:0.0825	.	.	.	.	H	331	.	ENSP00000442341:R331H	R	+	2	0	ZC3H18	87216151	0.000000	0.05858	0.119000	0.21687	0.358000	0.29455	-4.480000	0.00227	-4.082000	0.00075	-0.812000	0.03155	CGC	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269168.1		+	ENST00000301011.5	Silent	SNP	16 : 88688650 - 88688650 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	288	78
NEO1	4756	broad.mit.edu	37	15	73542036	73542036	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73542036A>G	ENST00000339362.5	+	12	2315	c.1868A>G	c.(1867-1869)gAt>gGt	p.D623G	NEO1_ENST00000558964.1_Missense_Mutation_p.D623G|NEO1_ENST00000261908.6_Missense_Mutation_p.D623G|NEO1_ENST00000560262.1_Missense_Mutation_p.D623G			Q92859	NEO1_HUMAN	neogenin 1	623	Fibronectin type-III 2.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TCCACACCAGATGTTGCTGTT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													189	171	177			NA	NA	15		NA											NA				73542036		2198	4297	6495	SO:0001583	missense			U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141	4756	4756		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	7754	protein-coding gene	gene with protein product	immunoglobulin superfamily, DCC subclass, member 2	601907	neogenin (chicken) homolog 1		NA	9121761	Standard	NM_002499	NM_002499	NA	Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.1868A>G	15.37:g.73542036A>G	ENSP00000341198:p.Asp623Gly	NA	O00340|Q17RX1	37	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.962056	0.92791	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.53206	0.63;0.63	5.79	5.79	0.91817	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.64811	0.2632	L	0.60455	1.87	0.80722	D	1	D;P;P;P	0.63046	0.992;0.48;0.801;0.953	D;P;P;P	0.71870	0.975;0.75;0.806;0.886	T	0.64542	-0.6383	10	0.46703	T	0.11	-22.4207	15.803	0.78471	1.0:0.0:0.0:0.0	.	623;623;361;623	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	G	623;361;623	ENSP00000341198:D623G;ENSP00000261908:D623G	ENSP00000261908:D623G	D	+	2	0	NEO1	71329089	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.204000	0.95041	2.198000	0.70561	0.533000	0.62120	GAT	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257472.2		+	ENST00000339362.5	Missense_Mutation	SNP	15 : 73542036 - 73542036 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	492	16
SNRPN	6638	broad.mit.edu	37	15	25222994	25222994	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25222994G>T	ENST00000554227.2	+	10	1435	c.502G>T	c.(502-504)Gcc>Tcc	p.A168S	SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000346403.6_Missense_Mutation_p.A164S|SNRPN_ENST00000400100.1_Missense_Mutation_p.A164S|SNRPN_ENST00000577565.1_Missense_Mutation_p.A164S|SNRPN_ENST00000390687.4_Missense_Mutation_p.A164S|SNRPN_ENST00000400098.1_Missense_Mutation_p.A164S|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000444203.2_Missense_Mutation_p.A168S|SNRPN_ENST00000400097.1_Missense_Mutation_p.A164S			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	164					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		TATTGCTGGAGCCCCAACACA	0.597		NA							Prader-Willi syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	38	37			NA	NA	15		NA											NA				25222994		1963	4167	6130	SO:0001583	missense	Familial Cancer Database	Prader-Labhart-Willi syndrome	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739	6638	6638			11164	protein-coding gene	gene with protein product	tissue-specific splicing protein, SM protein N, small nuclear ribonucleoprotein N	182279	Prader-Willi syndrome chromosome region	PWCR	NA	1533223	Standard	NM_003097	NM_022805	NA	Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000554227.2:c.502G>T	15.37:g.25222994G>T	ENSP00000452342:p.Ala168Ser	NA	P14648|P17135|Q0D2Q5	37		.	.	.	.	.	.	.	.	.	.	G	20.4	3.989846	0.74589	.	.	ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000214265	ENST00000400100;ENST00000400098;ENST00000400097;ENST00000554227;ENST00000390687;ENST00000444203;ENST00000346403	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	3.94	3.94	0.45596	.	0.168726	0.51477	N	0.000081	T	0.58495	0.2126	L	0.39898	1.24	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.981;0.981	T	0.62338	-0.6875	10	0.87932	D	0	-14.2258	14.2785	0.66196	0.0:0.0:1.0:0.0	.	168;164	B3KVR1;P63162	.;RSMN_HUMAN	S	164;164;164;168;164;168;23	ENSP00000382972:A164S;ENSP00000382970:A164S;ENSP00000382969:A164S;ENSP00000452342:A168S;ENSP00000375105:A164S;ENSP00000408767:A168S	ENSP00000306223:A23S	A	+	1	0	SNRPN;SNURF	22774087	1.000000	0.71417	1.000000	0.80357	0.474000	0.32979	8.292000	0.89930	2.482000	0.83794	0.585000	0.79938	GCC	SNRPN-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000413841.2		+	ENST00000554227.2	Missense_Mutation	SNP	15 : 25222994 - 25222994 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	208	44
CYFIP2	26999	broad.mit.edu	37	5	156746841	156746841	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156746841G>A	ENST00000521420.1	+	13	1441	c.1350G>A	c.(1348-1350)agG>agA	p.R450R	CYFIP2_ENST00000522463.1_Silent_p.R280R|CYFIP2_ENST00000347377.6_Silent_p.R476R|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000377576.3_Silent_p.R476R|CYFIP2_ENST00000541131.1_Silent_p.R401R|CYFIP2_ENST00000435847.2_Silent_p.R150R|CYFIP2_ENST00000318218.6_Silent_p.R476R			Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	476					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGCCATCAGGAACACCATCT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	133	132			NA	NA	5		NA											NA				156746841		2203	4300	6503	SO:0001819	synonymous_variant			AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163	26999	26999			13760	protein-coding gene	gene with protein product	p53 inducible protein	606323			NA	11438699	Standard	NM_001037332	NM_001037333	NA	Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1350G>A	5.37:g.156746841G>A		NA	A6NLT2|D3DQJ3|Q53EN5|Q9NTK4|Q9ULQ2|Q9UN29	37																																																																																				CYFIP2-001	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000373710.1		+	ENST00000521420.1	Silent	SNP	5 : 156746841 - 156746841 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	594	31
PIWIL2	55124	broad.mit.edu	37	8	22140627	22140627	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22140627A>C	ENST00000521356.1	+	5	614	c.506A>C	c.(505-507)aAg>aCg	p.K169T	PIWIL2_ENST00000454009.2_Missense_Mutation_p.K169T|PIWIL2_ENST00000356766.6_Missense_Mutation_p.K169T			Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	169					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		GAAGTGGACAAGCCTCCCTGT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	80	84			NA	NA	8		NA											NA				22140627		2203	4300	6503	SO:0001583	missense			AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181	55124	55124		Argonaute/PIWI family	17644	protein-coding gene	gene with protein product	Hiwi-like, cancer/testis antigen 80	610312	piwi-like 2 (Drosophila)		NA	11279525, 12906857	Standard		NM_018068	NA	Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000521356.1:c.506A>C	8.37:g.22140627A>C	ENSP00000428267:p.Lys169Thr	NA	A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|Q96SW6|Q9NW28	37		.	.	.	.	.	.	.	.	.	.	A	12.08	1.829594	0.32329	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.04970	3.53;3.52;3.53	5.52	3.12	0.35913	.	0.889113	0.09620	N	0.777691	T	0.04861	0.0131	L	0.27053	0.805	0.09310	N	1	B;B	0.19817	0.039;0.039	B;B	0.16722	0.016;0.01	T	0.48340	-0.9044	10	0.16420	T	0.52	-20.0075	6.8642	0.24084	0.8062:0.0:0.1938:0.0	.	169;169	E7ECA4;Q8TC59	.;PIWL2_HUMAN	T	169	ENSP00000349208:K169T;ENSP00000428267:K169T;ENSP00000406956:K169T	ENSP00000349208:K169T	K	+	2	0	PIWIL2	22196572	0.376000	0.25098	0.218000	0.23776	0.121000	0.20230	1.893000	0.39758	0.472000	0.27344	-0.263000	0.10527	AAG	PIWIL2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000375437.1		+	ENST00000521356.1	Missense_Mutation	SNP	8 : 22140627 - 22140627 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	322	49
PFAS	5198	broad.mit.edu	37	17	8168671	8168671	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8168671G>A	ENST00000314666.6	+	19	2479	c.2346G>A	c.(2344-2346)gcG>gcA	p.A782A	PFAS_ENST00000545834.1_Silent_p.A358A	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	782					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CAGCTTTGGCGGATGCCTGTG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	85	83			NA	NA	17		NA											NA				8168671		2203	4300	6503	SO:0001819	synonymous_variant			AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	5198	5198	6.3.5.3		8863	protein-coding gene	gene with protein product	FGAR amidotransferase	602133			NA	8110788	Standard		NM_012393	NA	Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.2346G>A	17.37:g.8168671G>A		NA	A6H8V8	37	CCDS11136.1																																																																																			PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226994.2		+	ENST00000314666.6	Silent	SNP	17 : 8168671 - 8168671 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	647	120
SFMBT2	57713	broad.mit.edu	37	10	7244459	7244459	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7244459G>A	ENST00000361972.4	-	13	1560	c.1470C>T	c.(1468-1470)gtC>gtT	p.V490V	SFMBT2_ENST00000397167.1_Silent_p.V490V	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	490					regulation of transcription, DNA-dependent	nucleus		p.V490V(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CTGGTTGCACGACTGCAATCT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											168	142	151			NA	NA	10		NA											NA				7244459		2203	4300	6503	SO:0001819	synonymous_variant			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879	57713	57713		Sterile alpha motif (SAM) domain containing	20256	protein-coding gene	gene with protein product		615392	Scm-related gene containing four mbt domains 2		NA	10997877	Standard	NM_001029880	NM_001029880	NA	Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1470C>T	10.37:g.7244459G>A		NA	A7MD09|Q9HCF5	37	CCDS31138.1																																																																																			SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046673.1		-	ENST00000361972.4	Silent	SNP	10 : 7244459 - 7244459 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	466	77
SATB1	6304	broad.mit.edu	37	3	18456684	18456684	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:18456684G>A	ENST00000417717.2	-	5	1528	c.558C>T	c.(556-558)caC>caT	p.H186H	SATB1_ENST00000338745.6_Silent_p.H186H|SATB1_ENST00000454909.2_Silent_p.H186H|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000475083.1_5'UTR	NM_001195470.1	NP_001182399.1	Q01826	SATB1_HUMAN	SATB homeobox 1	186	PDZ-like dimerization domain.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TCACTGTGGTGTGCGACCATT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	106	110			NA	NA	3		NA											NA				18456684		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568	6304	6304		Homeoboxes / CUT class	10541	protein-coding gene	gene with protein product		602075	special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)		NA	1505028	Standard	NM_001131010	NM_002971	NA	Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000417717.2:c.558C>T	3.37:g.18456684G>A		NA	B3KXF1|C9JTR6|Q59EQ0	37	CCDS56242.1																																																																																			SATB1-004	KNOWN	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339360.2		-	ENST00000417717.2	Silent	SNP	3 : 18456684 - 18456684 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	406	34
PROX1	5629	broad.mit.edu	37	1	214171148	214171148	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214171148T>G	ENST00000366958.4	+	2	1878	c.1270T>G	c.(1270-1272)Ttt>Gtt	p.F424V	PROX1_ENST00000498508.2_Missense_Mutation_p.F424V|PROX1_ENST00000261454.4_Missense_Mutation_p.F424V|PROX1_ENST00000435016.1_Missense_Mutation_p.F424V	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	424					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CCTGGACACCTTTGGCAATGT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	101	101			NA	NA	1		NA											NA				214171148		2203	4300	6503	SO:0001583	missense			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707	5629	5629		Homeoboxes / PROS class	9459	protein-coding gene	gene with protein product		601546	prospero-related homeobox 1		NA	8812486	Standard	NM_002763	NM_002763	NA	Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1270T>G	1.37:g.214171148T>G	ENSP00000355925:p.Phe424Val	NA	A6NK29|A8K2B1|Q5SW76|Q8TB91	37	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	T	15.92	2.974146	0.53720	.	.	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.51574	0.72;0.7;0.72;0.72	5.43	5.43	0.79202	.	0.094831	0.85682	D	0.000000	T	0.65974	0.2743	M	0.65975	2.015	0.80722	D	1	D	0.62365	0.991	D	0.76575	0.988	T	0.64132	-0.6479	10	0.32370	T	0.25	-2.9139	15.4822	0.75537	0.0:0.0:0.0:1.0	.	424	Q92786	PROX1_HUMAN	V	424	ENSP00000420283:F424V;ENSP00000355925:F424V;ENSP00000400694:F424V;ENSP00000261454:F424V	ENSP00000261454:F424V	F	+	1	0	PROX1	212237771	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.040000	0.89188	2.060000	0.61445	0.482000	0.46254	TTT	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089727.6		+	ENST00000366958.4	Missense_Mutation	SNP	1 : 214171148 - 214171148 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	809	188
MAB21L1	4081	broad.mit.edu	37	13	36049526	36049526	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36049526G>A	ENST00000379919.4	-	1	1306	c.750C>T	c.(748-750)tgC>tgT	p.C250C	NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	250					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		GGATGGAGAGGCACTTCTTTC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	82	80			NA	NA	13		NA											NA				36049526		2203	4300	6503	SO:0001819	synonymous_variant			BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660	4081	4081			6757	protein-coding gene	gene with protein product		601280	mab-21 (C. elegans)-like 1		NA	8733127	Standard	NM_005584	NM_005584	NA	Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.750C>T	13.37:g.36049526G>A		NA	Q6I9T5	37	CCDS9353.1																																																																																			MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044459.3		-	ENST00000379919.4	Silent	SNP	13 : 36049526 - 36049526 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	504	70
DSP	1832	broad.mit.edu	37	6	7563014	7563014	+	Splice_Site	SNP	G	G	A	rs111295218		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7563014G>A	ENST00000379802.3	+	5	1067		c.e5+1		DSP_ENST00000418664.2_Splice_Site	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	NA					cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGCCGACCTGGTACTTGTCTG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	106	106			NA	NA	6		NA											NA				7563014		2203	4300	6503	SO:0001630	splice_region_variant			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696	1832	1832			3052	protein-coding gene	gene with protein product		125647	desmoplakin (DPI, DPII)		NA	1889810	Standard	NM_004415	NM_004415	NA	Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.726+1G>A	6.37:g.7563014G>A		NA	B2RTT2|O75993|Q14189|Q9UHN4	37	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644213	0.87859	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9759	0.97304	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DSP	7508013	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.283000	0.95860	2.713000	0.92767	0.655000	0.94253	.	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039786.2	Intron	+	ENST00000379802.3	Splice_Site	SNP	6 : 7563014 - 7563014 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	419	79
FAT4	79633	broad.mit.edu	37	4	126240893	126240893	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126240893C>T	ENST00000394329.3	+	1	3340	c.3327C>T	c.(3325-3327)ttC>ttT	p.F1109F		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1109	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CATTTTACTTCGAAGAAGAGC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	153	155			NA	NA	4		NA											NA				126240893		1853	4077	5930	SO:0001819	synonymous_variant			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159	79633	79633		Cadherins / Cadherin-related	23109	protein-coding gene	gene with protein product	cadherin-related family member 11	612411	FAT tumor suppressor homolog 4 (Drosophila)		NA	15003449	Standard	NM_024582	NM_024582	NA	Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.3327C>T	4.37:g.126240893C>T		NA	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	37	CCDS3732.3																																																																																			FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256765.2		+	ENST00000394329.3	Silent	SNP	4 : 126240893 - 126240893 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1017	200
COL5A3	50509	broad.mit.edu	37	19	10100162	10100162	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10100162C>T	ENST00000264828.3	-	25	2114	c.2029G>A	c.(2029-2031)Gga>Aga	p.G677R		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	677	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCATCGGATCCTGGGAGGCCT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	48	47			NA	NA	19		NA											NA				10100162		2203	4300	6503	SO:0001583	missense			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573	50509	50509		Collagens	14864	protein-coding gene	gene with protein product		120216			NA	10722718	Standard	NM_015719	NM_015719	NA	Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2029G>A	19.37:g.10100162C>T	ENSP00000264828:p.Gly677Arg	NA	Q9NZQ6	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179716	0.78564	.	.	ENSG00000080573	ENST00000264828	D	0.98807	-5.15	4.84	4.84	0.62591	.	0.000000	0.64402	U	0.000001	D	0.99429	0.9798	H	0.97440	4.005	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.98300	1.0518	10	0.87932	D	0	.	13.4752	0.61303	0.0:1.0:0.0:0.0	.	677	P25940	CO5A3_HUMAN	R	677	ENSP00000264828:G677R	ENSP00000264828:G677R	G	-	1	0	COL5A3	9961162	1.000000	0.71417	0.985000	0.45067	0.880000	0.50808	6.071000	0.71229	2.250000	0.74265	0.561000	0.74099	GGA	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000315788.1		-	ENST00000264828.3	Missense_Mutation	SNP	19 : 10100162 - 10100162 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	285	56
HSPA12A	259217	broad.mit.edu	37	10	118434865	118434865	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118434865G>A	ENST00000369209.3	-	12	1559	c.1455C>T	c.(1453-1455)gcC>gcT	p.A485A		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	485							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GGGGCGCCTCGGCAAAGCCGC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	16	16			NA	NA	10		NA											NA				118434865		1916	4110	6026	SO:0001819	synonymous_variant			AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868	259217	259217		Heat shock proteins / HSP70	19022	protein-coding gene	gene with protein product		610701	heat shock 70kD protein 12A		NA	12552099	Standard	NM_025015	NM_025015	NA	Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.1455C>T	10.37:g.118434865G>A		NA		37	CCDS41569.1																																																																																			HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050530.1		-	ENST00000369209.3	Silent	SNP	10 : 118434865 - 118434865 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	141	31
DDX20	11218	broad.mit.edu	37	1	112309448	112309448	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:112309448G>A	ENST00000475700.1	+	3	3584	c.1226G>A	c.(1225-1227)aGa>aAa	p.R409K	DDX20_ENST00000369702.4_Missense_Mutation_p.R801K			Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	801	Helicase C-terminal.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATGCTCAGAGACATCCAAGT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	80	80			NA	NA	1		NA											NA				112309448		2203	4300	6503	SO:0001583	missense			AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703	11218	11218		DEAD-boxes	2743	protein-coding gene	gene with protein product		606168	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD		NA	10383418	Standard	NM_007204	NM_007204	NA	Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000475700.1:c.1226G>A	1.37:g.112309448G>A	ENSP00000435660:p.Arg409Lys	NA	Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	37		.	.	.	.	.	.	.	.	.	.	G	23.1	4.369712	0.82573	.	.	ENSG00000064703	ENST00000369702;ENST00000475700	T;T	0.34275	1.37;1.83	5.82	5.82	0.92795	.	0.169212	0.64402	D	0.000014	T	0.19208	0.0461	L	0.52364	1.645	0.80722	D	1	P;B	0.42518	0.782;0.236	B;B	0.36378	0.223;0.091	T	0.02596	-1.1136	9	.	.	.	-19.141	12.9785	0.58549	0.0743:0.0:0.9257:0.0	.	409;801	E9PJ60;Q9UHI6	.;DDX20_HUMAN	K	801;409	ENSP00000358716:R801K;ENSP00000435660:R409K	.	R	+	2	0	DDX20	112110971	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.045000	0.64220	2.760000	0.94817	0.655000	0.94253	AGA	DDX20-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000033064.2		+	ENST00000475700.1	Missense_Mutation	SNP	1 : 112309448 - 112309448 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	384	60
COL1A1	1277	broad.mit.edu	37	17	48263816	48263816	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48263816G>A	ENST00000225964.5	-	49	3985	c.3867C>T	c.(3865-3867)gtC>gtT	p.V1289V		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1289	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TGTTGCAGAAGACTTTGATGG	0.567		NA	T	PDGFB, USP6	dermatofibrosarcoma protuberans, aneurysmal bone cyst 		Osteogenesis imperfecta							NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		17	17q21.31-q22	1277	collagen, type I, alpha 1	yes	M	0													134	127	129			NA	NA	17		NA											NA				48263816		2203	4300	6503	SO:0001819	synonymous_variant			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821	1277	1277		Collagens	2197	protein-coding gene	gene with protein product		120150			NA	3178743, 2857713	Standard		NM_000088	NA	Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.3867C>T	17.37:g.48263816G>A		NA	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	37	CCDS11561.1																																																																																			COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000309036.2		-	ENST00000225964.5	Silent	SNP	17 : 48263816 - 48263816 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	597	127
ARHGEF37	389337	broad.mit.edu	37	5	148996246	148996246	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148996246C>T	ENST00000333677.6	+	5	738	c.575C>T	c.(574-576)gCc>gTc	p.A192V		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	192	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GATGCCAGTGCCTATCCTGTC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	105	107			NA	NA	5		NA											NA				148996246		1972	4162	6134	SO:0001583	missense			BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111	389337	389337		Rho guanine nucleotide exchange factors	34430	protein-coding gene	gene with protein product					NA		Standard	NM_001001669	XM_005268448	NA	Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.575C>T	5.37:g.148996246C>T	ENSP00000328083:p.Ala192Val	NA	Q6ZW51	37	CCDS43385.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698084	0.68386	.	.	ENSG00000183111	ENST00000333677	T	0.30448	1.53	5.17	5.17	0.71159	Dbl homology (DH) domain (5);	0.056528	0.64402	D	0.000001	T	0.49372	0.1553	L	0.43923	1.385	0.58432	D	0.999999	D	0.76494	0.999	D	0.68765	0.96	T	0.49762	-0.8905	10	0.87932	D	0	-5.8857	19.0356	0.92976	0.0:1.0:0.0:0.0	.	192	A1IGU5	ARH37_HUMAN	V	192	ENSP00000328083:A192V	ENSP00000328083:A192V	A	+	2	0	ARHGEF37	148976439	1.000000	0.71417	0.993000	0.49108	0.143000	0.21401	3.540000	0.53611	2.584000	0.87258	0.467000	0.42956	GCC	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373763.1		+	ENST00000333677.6	Missense_Mutation	SNP	5 : 148996246 - 148996246 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	55
HTR3D	200909	broad.mit.edu	37	3	183756362	183756362	+	Missense_Mutation	SNP	C	C	T	rs142947621		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183756362C>T	ENST00000382489.3	+	7	1085	c.1085C>T	c.(1084-1086)gCg>gTg	p.A362V	HTR3D_ENST00000453435.1_Missense_Mutation_p.A141V|HTR3D_ENST00000428798.2_Missense_Mutation_p.A312V|HTR3D_ENST00000334128.2_Missense_Mutation_p.A187V	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	362						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGTCCCACTGCGCCCCAGAAG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	41	43	43		935,1085,560	-2.3	0	3	dbSNP_134	43	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	HTR3D	NM_001145143.1,NM_001163646.1,NM_182537.2	64,64,64	0,2,6501	TT,TC,CC	NA	0.0116,0.0227,0.0154	benign,benign,benign	312/405,362/455,187/280	183756362	2,13004	2203	4300	6503	SO:0001583	missense			AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090	200909	200909		5-HT (serotonin) receptors, Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic	24004	protein-coding gene	gene with protein product		610122	5-hydroxytryptamine (serotonin) receptor 3 family member D		NA	12801637	Standard	NM_182537	NM_001145143	NA	Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.1085C>T	3.37:g.183756362C>T	ENSP00000371929:p.Ala362Val	NA	C9J2I6|Q495N5|Q495N6|Q7Z6B3	37	CCDS54685.1	.	.	.	.	.	.	.	.	.	.	C	9.507	1.104866	0.20632	2.27E-4	1.16E-4	ENSG00000186090	ENST00000334128;ENST00000428798;ENST00000382489;ENST00000453435	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	3.53	-2.29	0.06805	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.580121	0.14908	N	0.291438	T	0.55146	0.1902	N	0.20807	0.61	0.09310	N	1	B;B;B;B	0.33807	0.426;0.172;0.025;0.085	B;B;B;B	0.26416	0.069;0.024;0.009;0.031	T	0.46596	-0.9180	10	0.38643	T	0.18	-1.9671	1.0791	0.01639	0.1685:0.2824:0.3314:0.2176	.	362;187;141;187	Q70Z44;Q70Z44-2;Q70Z44-3;F6WC43	5HT3D_HUMAN;.;.;.	V	187;312;362;141	ENSP00000334315:A187V;ENSP00000405409:A312V;ENSP00000371929:A362V;ENSP00000389268:A141V	ENSP00000334315:A187V	A	+	2	0	HTR3D	185239056	0.000000	0.05858	0.007000	0.13788	0.151000	0.21798	-1.644000	0.02002	-0.276000	0.09206	0.462000	0.41574	GCG	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346289.1		+	ENST00000382489.3	Missense_Mutation	SNP	3 : 183756362 - 183756362 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	60
HERC1	8925	broad.mit.edu	37	15	63935242	63935242	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63935242G>A	ENST00000443617.2	-	59	11434	c.11347C>T	c.(11347-11349)Caa>Taa	p.Q3783*		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3783					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						acaacagtttgcaagACAGAG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	60	62			NA	NA	15		NA											NA				63935242		1862	4091	5953	SO:0001587	stop_gained			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657	8925	8925		WD repeat domain containing	4867	protein-coding gene	gene with protein product		605109	hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1		NA	8861955, 9233772	Standard	NM_003922	NM_003922	NA	Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.11347C>T	15.37:g.63935242G>A	ENSP00000390158:p.Gln3783*	NA	Q8IW65	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	52	19.959870	0.99925	.	.	ENSG00000103657	ENST00000443617	.	.	.	4.39	4.39	0.52855	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	12.8081	0.57626	0.0:0.0:1.0:0.0	.	.	.	.	X	3783	.	ENSP00000390158:Q3783X	Q	-	1	0	HERC1	61722295	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	6.926000	0.75835	2.153000	0.67306	0.467000	0.42956	CAA	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418523.1		-	ENST00000443617.2	Nonsense_Mutation	SNP	15 : 63935242 - 63935242 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	119	21
CTNND2	1501	broad.mit.edu	37	5	11346613	11346613	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:11346613G>A	ENST00000304623.8	-	9	1688	c.1499C>T	c.(1498-1500)gCg>gTg	p.A500V	CTNND2_ENST00000359640.2_Missense_Mutation_p.A500V|CTNND2_ENST00000503622.1_Missense_Mutation_p.A163V|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.A67V|CTNND2_ENST00000511377.1_Missense_Mutation_p.A409V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	500					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTAGGGGTCCGCGTAATTGGA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	86	85			NA	NA	5		NA											NA				11346613		2203	4300	6503	SO:0001583	missense			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862	1501	1501		Armadillo repeat containing	2516	protein-coding gene	gene with protein product	neural plakophilin-related arm-repeat protein	604275	catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)		NA	9342840, 9223106	Standard	NM_001332	XM_005248251	NA	Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1499C>T	5.37:g.11346613G>A	ENSP00000307134:p.Ala500Val	NA	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	37	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529764	0.85706	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.80393	-1.22;-1.28;-1.25;-1.37;-1.26	5.8	5.8	0.92144	.	0.287190	0.32015	N	0.006716	T	0.73241	0.3562	L	0.44542	1.39	0.58432	D	0.999994	B;B;P	0.48998	0.384;0.196;0.918	B;B;B	0.33799	0.026;0.017;0.17	T	0.75365	-0.3343	10	0.39692	T	0.17	-14.6084	20.1139	0.97919	0.0:0.0:1.0:0.0	.	163;67;500	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	V	500;500;409;67;163	ENSP00000307134:A500V;ENSP00000352661:A500V;ENSP00000426510:A409V;ENSP00000391155:A67V;ENSP00000426887:A163V	ENSP00000307134:A500V	A	-	2	0	CTNND2	11399613	1.000000	0.71417	0.967000	0.41034	0.976000	0.68499	5.153000	0.64888	2.763000	0.94921	0.585000	0.79938	GCG	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206999.1		-	ENST00000304623.8	Missense_Mutation	SNP	5 : 11346613 - 11346613 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	718	78
AMDHD2	51005	broad.mit.edu	37	16	2570854	2570854	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2570854G>A	ENST00000302956.4	+	2	262	c.168G>A	c.(166-168)cgG>cgA	p.R56R	AMDHD2_ENST00000293971.6_Silent_p.R56R|AMDHD2_ENST00000413459.3_Silent_p.R56R|ATP6C_ENST00000569317.1_Intron			Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	56					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						ACGAGCGGCGGGACTGCGGGG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	30	27			NA	NA	16		NA											NA				2570854		2194	4294	6488	SO:0001819	synonymous_variant			AF132948	CCDS10471.1, CCDS53984.1	16p13.3	2008-02-05			ENSG00000162066	ENSG00000162066	51005	51005			24262	protein-coding gene	gene with protein product					NA	10810093	Standard	NM_015944	NM_001145815	NA	Approved	CGI-14	uc010uwc.2	Q9Y303	OTTHUMG00000128866	ENST00000302956.4:c.168G>A	16.37:g.2570854G>A		NA	B4DL77|Q8WV54	37	CCDS10471.1																																																																																			AMDHD2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250811.1		+	ENST00000302956.4	Silent	SNP	16 : 2570854 - 2570854 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	89
PYGB	5834	broad.mit.edu	37	20	25277122	25277122	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25277122C>T	ENST00000216962.4	+	20	2606	c.2496C>T	c.(2494-2496)gaC>gaT	p.D832D	PYGB_ENST00000471359.1_3'UTR|ABHD12_ENST00000376542.3_Intron	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	832					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	AGCCCTCCGACCTGCAGATCC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	67	72			NA	NA	20		NA											NA				25277122		2203	4300	6503	SO:0001819	synonymous_variant				CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	5834	5834	2.4.1.1	Glycogen phosphorylases	9723	protein-coding gene	gene with protein product	glycogen phosphorylase, brain form	138550			NA		Standard	NM_002862	NM_002862	NA	Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.2496C>T	20.37:g.25277122C>T		NA	Q96AK1|Q9NPX8	37	CCDS13171.1																																																																																			PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078415.2		+	ENST00000216962.4	Silent	SNP	20 : 25277122 - 25277122 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	463	72
IGF2R	3482	broad.mit.edu	37	6	160493851	160493851	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160493851A>G	ENST00000356956.1	+	33	4773	c.4625A>G	c.(4624-4626)tAc>tGc	p.Y1542C		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1542					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		ACAGCTGCTTACAGCGAGAAG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													194	166	175			NA	NA	6		NA											NA				160493851		2203	4300	6503	SO:0001583	missense			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081	3482	3482		CD molecules	5467	protein-coding gene	gene with protein product	cation-independent mannose-6 phosphate receptor	147280			NA		Standard	NM_000876	NM_000876	NA	Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.4625A>G	6.37:g.160493851A>G	ENSP00000349437:p.Tyr1542Cys	NA	Q7Z7G9|Q96PT5	37	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	A	14.45	2.538926	0.45176	.	.	ENSG00000197081	ENST00000356956	T	0.02103	4.45	5.26	5.26	0.73747	Mannose-6-phosphate receptor, binding (1);	0.587979	0.18186	N	0.148968	T	0.06234	0.0161	M	0.75447	2.3	0.36227	D	0.852367	D	0.76494	0.999	D	0.74023	0.982	T	0.06716	-1.0811	10	0.52906	T	0.07	-7.7268	11.5057	0.50466	1.0:0.0:0.0:0.0	.	1542	P11717	MPRI_HUMAN	C	1542	ENSP00000349437:Y1542C	ENSP00000349437:Y1542C	Y	+	2	0	IGF2R	160413841	0.928000	0.31464	1.000000	0.80357	0.439000	0.31926	4.515000	0.60489	2.205000	0.71048	0.528000	0.53228	TAC	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042931.1		+	ENST00000356956.1	Missense_Mutation	SNP	6 : 160493851 - 160493851 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	663	24
KRTAP4-5	85289	broad.mit.edu	37	17	39305864	39305864	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39305864C>A	ENST00000343246.4	-	1	190	c.156G>T	c.(154-156)caG>caT	p.Q52H		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	52	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].					keratin filament				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			agcagGTGGGCTGGTAGCACA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	26	25			NA	NA	17		NA											NA				39305864		2180	4267	6447	SO:0001583	missense			AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271	85289	85289		Keratin associated proteins	18899	protein-coding gene	gene with protein product					NA	11279113	Standard		NM_033188	NA	Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.156G>T	17.37:g.39305864C>A	ENSP00000340546:p.Gln52His	NA		37	CCDS32650.1	.	.	.	.	.	.	.	.	.	.	.	7.649	0.682408	0.14907	.	.	ENSG00000198271	ENST00000343246	T	0.00594	6.33	4.12	2.03	0.26663	.	0.609345	0.11953	U	0.513531	T	0.02047	0.0064	M	0.77406	2.37	0.09310	N	0.999999	D	0.65815	0.995	D	0.68353	0.957	T	0.45145	-0.9281	10	0.52906	T	0.07	.	6.334	0.21287	0.1868:0.7083:0.0:0.1048	.	52	Q9BYR2	KRA45_HUMAN	H	52	ENSP00000340546:Q52H	ENSP00000340546:Q52H	Q	-	3	2	KRTAP4-5	36559390	0.000000	0.05858	0.684000	0.30055	0.120000	0.20174	-0.593000	0.05740	0.987000	0.38709	0.655000	0.94253	CAG	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257783.1		-	ENST00000343246.4	Missense_Mutation	SNP	17 : 39305864 - 39305864 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	357	67
TANC2	26115	broad.mit.edu	37	17	61499068	61499068	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61499068G>A	ENST00000424789.2	+	25	5729	c.5725G>A	c.(5725-5727)Gca>Aca	p.A1909T	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.A1919T	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1909							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						AACCAACAATGCACAGAATGG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	90	91			NA	NA	17		NA											NA				61499068		2078	4214	6292	SO:0001583	missense			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921	26115	26115		Ankyrin repeat domain containing, Tetratricopeptide (TTC) repeat domain containing	30212	protein-coding gene	gene with protein product	rolling pebbles homolog B (Drosophila)	615047			NA		Standard		NM_025185	NA	Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.5725G>A	17.37:g.61499068G>A	ENSP00000387593:p.Ala1909Thr	NA	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	37	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061563	0.76187	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.68624	-0.34;-0.34	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.72558	0.3475	L	0.27053	0.805	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.68503	-0.5391	10	0.30078	T	0.28	.	18.4431	0.90674	0.0:0.0:1.0:0.0	.	1909	Q9HCD6	TANC2_HUMAN	T	1919;1909	ENSP00000374171:A1919T;ENSP00000387593:A1909T	ENSP00000374171:A1919T	A	+	1	0	TANC2	58852800	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.806000	0.86020	2.868000	0.98415	0.555000	0.69702	GCA	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444765.1		+	ENST00000424789.2	Missense_Mutation	SNP	17 : 61499068 - 61499068 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	271	67
PDE6B	5158	broad.mit.edu	37	4	619547	619547	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:619547C>T	ENST00000255622.6	+	1	175	c.132C>T	c.(130-132)tgC>tgT	p.C44C	PDE6B_ENST00000496514.1_Silent_p.C44C	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	44					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CGCCGGACTGCGACAGCCTCC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(71;463 1194 9848 25922 46834)							NA				0													38	41	40			NA	NA	4		NA											NA				619547		2203	4300	6503	SO:0001819	synonymous_variant			BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	5158	5158	3.1.4.17	Phosphodiesterases	8786	protein-coding gene	gene with protein product	congenital stationary night blindness 3, autosomal dominant	180072		PDEB	NA	1313787	Standard	NM_000283	NM_001145292	NA	Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000255622.6:c.132C>T	4.37:g.619547C>T		NA	Q53XN5|Q9BWH5|Q9UD49	37	CCDS54703.1																																																																																			PDE6B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358108.1		+	ENST00000255622.6	Silent	SNP	4 : 619547 - 619547 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	321	34
GLI3	2737	broad.mit.edu	37	7	42005103	42005103	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42005103C>T	ENST00000395925.3	-	15	3652	c.3568G>A	c.(3568-3570)Gcc>Acc	p.A1190T	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1190					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AACCCAAAGGCGCGAGTCTGC	0.657		NA							Pallister-Hall syndrome;Greig Cephalopolysyndactyly					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	77	72			NA	NA	7		NA											NA				42005103		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571	2737	2737		Zinc fingers, C2H2-type	4319	protein-coding gene	gene with protein product	zinc finger protein GLI3, oncogene GLI3, DNA-binding protein	165240	Greig cephalopolysyndactyly syndrome, GLI-Kruppel family member GLI3, glioma-associated oncogene family zinc finger 3	GCPS, PHS	NA	2118997	Standard	NM_000168	NM_000168	NA	Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3568G>A	7.37:g.42005103C>T	ENSP00000379258:p.Ala1190Thr	NA	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	37	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693048	0.48202	.	.	ENSG00000106571	ENST00000395925	T	0.15256	2.44	5.57	5.57	0.84162	.	0.152938	0.64402	D	0.000016	T	0.10981	0.0268	L	0.38175	1.15	0.80722	D	1	B	0.18610	0.029	B	0.08055	0.003	T	0.07908	-1.0748	10	0.02654	T	1	.	9.4972	0.38995	0.0:0.7812:0.1441:0.0747	.	1190	P10071	GLI3_HUMAN	T	1190	ENSP00000379258:A1190T	ENSP00000379258:A1190T	A	-	1	0	GLI3	41971628	0.170000	0.23016	0.039000	0.18376	0.212000	0.24457	0.601000	0.24119	2.610000	0.88304	0.563000	0.77884	GCC	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250806.3		-	ENST00000395925.3	Missense_Mutation	SNP	7 : 42005103 - 42005103 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	906	191
CCDC141	285025	broad.mit.edu	37	2	179736940	179736940	+	Missense_Mutation	SNP	G	G	A	rs146458136		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179736940G>A	ENST00000420890.2	-	13	2116	c.1999C>T	c.(1999-2001)Cgg>Tgg	p.R667W	CCDC141_ENST00000295723.5_Missense_Mutation_p.R92W	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	92							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CATGCCAGCCGAAGGAGGCTA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	145	122	130		1999	2.3	0.3	2	dbSNP_134	130	0,8600		0,0,4300	no	missense	CCDC141	NM_173648.3	101	0,3,6500	AA,AG,GG	NA	0.0,0.0681,0.0231	benign	667/1531	179736940	3,13003	2203	4300	6503	SO:0001583	missense			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492	285025	285025		Immunoglobulin superfamily / Immunoglobulin-like domain containing	26821	protein-coding gene	gene with protein product	coiled-coil protein associated with myosin II and DISC1				NA	20956536	Standard	NM_173648	NM_173648	NA	Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.1999C>T	2.37:g.179736940G>A	ENSP00000395995:p.Arg667Trp	NA	Q8N8H3	37		.	.	.	.	.	.	.	.	.	.	G	13.21	2.170634	0.38315	6.81E-4	0.0	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758;ENST00000446116	T;T;T;T	0.44482	0.92;1.53;1.53;1.53	5.51	2.32	0.28847	.	0.306192	0.23682	N	0.045611	T	0.21267	0.0512	N	0.14661	0.345	0.26784	N	0.969549	B	0.20459	0.045	B	0.15052	0.012	T	0.10590	-1.0623	10	0.33141	T	0.24	-3.0752	5.5109	0.16880	0.3894:0.0:0.6106:0.0	.	92	Q6ZP82	CC141_HUMAN	W	667;111;92;667;602	ENSP00000395995:R667W;ENSP00000344627:R111W;ENSP00000295723:R92W;ENSP00000390190:R667W	ENSP00000295723:R92W	R	-	1	2	CCDC141	179445185	0.574000	0.26684	0.278000	0.24718	0.823000	0.46562	0.882000	0.28186	0.684000	0.31448	-0.259000	0.10710	CGG	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding			-	ENST00000420890.2	Missense_Mutation	SNP	2 : 179736940 - 179736940 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	472	78
AOC1	26	broad.mit.edu	37	7	150554912	150554912	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150554912C>T	ENST00000493429.1	+	4	1938	c.1354C>T	c.(1354-1356)Ctg>Ttg	p.L452L	AOC1_ENST00000416793.2_Silent_p.L452L|AOC1_ENST00000360937.4_Silent_p.L452L|AOC1_ENST00000467291.1_Silent_p.L452L					amine oxidase, copper containing 1	NA											NA						GGTGCTGGTGCTGCGGACAAC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	72	70			NA	NA	7		NA											NA				150554912		2033	4188	6221	SO:0001819	synonymous_variant			AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	26	26	1.4.3.22		80	protein-coding gene	gene with protein product	diamine oxidase	104610	amiloride binding protein 1 (amine oxidase (copper-containing))	ABP1	NA	8182053	Standard	NM_001091	NM_001091	NA	Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1354C>T	7.37:g.150554912C>T		NA		37	CCDS43679.1																																																																																			AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350628.1		+	ENST00000493429.1	Silent	SNP	7 : 150554912 - 150554912 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	332	41
ABLIM2	84448	broad.mit.edu	37	4	8108314	8108314	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8108314C>T	ENST00000361737.5	-	2	182	c.61G>A	c.(61-63)Gcg>Acg	p.A21T	ABLIM2_ENST00000546334.1_Missense_Mutation_p.A21T|ABLIM2_ENST00000361581.5_Missense_Mutation_p.A21T|ABLIM2_ENST00000341937.5_Missense_Mutation_p.A21T|ABLIM2_ENST00000428004.2_Missense_Mutation_p.A21T|ABLIM2_ENST00000296372.8_Missense_Mutation_p.A21T|ABLIM2_ENST00000407564.3_Missense_Mutation_p.A21T|ABLIM2_ENST00000545242.1_Missense_Mutation_p.A21T|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000505872.1_Missense_Mutation_p.A21T|ABLIM2_ENST00000447017.2_Missense_Mutation_p.A21T	NM_001130087.1	NP_001123559.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	21					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CACAGGATCGCCGTGCTGGGC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	45	43			NA	NA	4		NA											NA				8108314		2113	4219	6332	SO:0001583	missense			AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995	84448	84448			19195	protein-coding gene	gene with protein product		612544	actin binding LIM protein 2		NA		Standard	NM_001130083	NM_001130083	NA	Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000361737.5:c.61G>A	4.37:g.8108314C>T	ENSP00000354887:p.Ala21Thr	NA	Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	37	CCDS47015.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768134	0.31320	.	.	ENSG00000163995	ENST00000361737;ENST00000400045;ENST00000296372;ENST00000545242;ENST00000546334;ENST00000447017;ENST00000341937;ENST00000361581;ENST00000407564;ENST00000505872;ENST00000428004	T;T;T;T;T;T;T;T;T;T	0.32753	1.59;1.85;1.78;1.59;1.77;1.85;1.78;1.53;1.6;1.44	4.15	3.3	0.37823	.	0.171361	0.40385	N	0.001104	T	0.39759	0.1090	L	0.47716	1.5	0.80722	D	1	P;P;P;P;D;B;D;B	0.63880	0.722;0.716;0.655;0.581;0.993;0.278;0.965;0.446	B;B;B;B;P;B;P;B	0.58172	0.08;0.407;0.165;0.287;0.834;0.15;0.637;0.15	T	0.09228	-1.0684	10	0.27082	T	0.32	.	12.5547	0.56246	0.1678:0.8322:0.0:0.0	.	26;21;21;21;21;21;21;21	B7Z6W4;Q6H8Q1-6;Q08E71;Q6H8Q1-2;Q6H8Q1-3;Q6H8Q1;Q19VH0;E9PF39	.;.;.;.;.;ABLM2_HUMAN;.;.	T	21	ENSP00000354887:A21T;ENSP00000296372:A21T;ENSP00000441255:A21T;ENSP00000444365:A21T;ENSP00000393511:A21T;ENSP00000342813:A21T;ENSP00000355003:A21T;ENSP00000384658:A21T;ENSP00000421283:A21T;ENSP00000389410:A21T	ENSP00000296372:A21T	A	-	1	0	ABLIM2	8159214	0.014000	0.17966	0.957000	0.39632	0.118000	0.20060	1.027000	0.30115	1.079000	0.41038	0.462000	0.41574	GCG	ABLIM2-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363009.1		-	ENST00000361737.5	Missense_Mutation	SNP	4 : 8108314 - 8108314 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	102	20
MYL9	10398	broad.mit.edu	37	20	35177499	35177499	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35177499C>T	ENST00000279022.2	+	4	470	c.366C>T	c.(364-366)caC>caT	p.H122H	RP5-977B1.7_ENST00000425233.1_RNA|RP5-977B1.7_ENST00000439595.1_RNA|MYL9_ENST00000346786.2_Silent_p.H68H	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	122	EF-hand 2.				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ATGAGGACCACCTCCGGGAGC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	69	71			NA	NA	20		NA											NA				35177499		2203	4300	6503	SO:0001819	synonymous_variant			J02854	CCDS13276.1, CCDS13277.1	20q11.23	2013-01-10	2006-09-29		ENSG00000101335	ENSG00000101335	10398	10398		Myosins / Light chain, EF-hand domain containing	15754	protein-coding gene	gene with protein product	myosin regulatory light chain 2, smooth muscle isoform, myosin regulatory light chain 1	609905	myosin, light polypeptide 9, regulatory		NA	2526655	Standard	NM_006097	NM_006097	NA	Approved	MYRL2, MLC2, LC20, MRLC1	uc002xfl.2	P24844	OTTHUMG00000032387	ENST00000279022.2:c.366C>T	20.37:g.35177499C>T		NA	E1P5T6|Q9H136	37	CCDS13276.1																																																																																			MYL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079015.2		+	ENST00000279022.2	Silent	SNP	20 : 35177499 - 35177499 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	283	51
PRUNE2	158471	broad.mit.edu	37	9	79253164	79253164	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79253164G>A	ENST00000376718.3	-	13	8892	c.8769C>T	c.(8767-8769)gcC>gcT	p.A2923A	PRUNE2_ENST00000223609.6_Silent_p.A188A|PRUNE2_ENST00000428286.1_Silent_p.A2565A|PRUNE2_ENST00000443509.2_Silent_p.A172A|PRUNE2_ENST00000466266.2_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2923	CRAL-TRIO.				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GAAAACAGGCGGCAAACACAA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	67	68			NA	NA	9		NA											NA				79253164		1568	3582	5150	SO:0001819	synonymous_variant			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772	158471	158471			25209	protein-coding gene	gene with protein product	olfaxin	610691	chromosome 9 open reading frame 65, KIAA0367	C9orf65, KIAA0367	NA	16288218	Standard	NM_138818	NM_015225	NA	Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.8769C>T	9.37:g.79253164G>A		NA	B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	37	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	9.511	1.105719	0.20632	.	.	ENSG00000106772	ENST00000426088	.	.	.	5.46	-7.36	0.01417	.	.	.	.	.	T	0.50718	0.1632	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57388	-0.7820	4	.	.	.	-15.8655	10.1297	0.42672	0.7359:0.0874:0.0893:0.0874	.	.	.	.	C	2248	.	.	R	-	1	0	PRUNE2	78442984	0.000000	0.05858	0.935000	0.37517	0.994000	0.84299	-2.106000	0.01338	-0.994000	0.03463	-0.266000	0.10368	CGC	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052730.2		-	ENST00000376718.3	Silent	SNP	9 : 79253164 - 79253164 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	201	27
BAIAP3	8938	broad.mit.edu	37	16	1397955	1397955	+	Missense_Mutation	SNP	G	G	A	rs148005520		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1397955G>A	ENST00000421665.2	+	31	3191	c.2978G>A	c.(2977-2979)cGc>cAc	p.R993H	BAIAP3_ENST00000426824.3_Missense_Mutation_p.R1029H|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R1046H|BAIAP3_ENST00000324385.5_Missense_Mutation_p.R1064H|BAIAP3_ENST00000397489.1_Missense_Mutation_p.R1046H|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R1006H|BAIAP3_ENST00000568887.1_Missense_Mutation_p.R1001H	NM_001199096.1	NP_001186025.1	O94812	BAIP3_HUMAN	BAI1-associated protein 3	1064	MHD2.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CCACTGGTCCGCAGCCAGAGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4396		0,0,2198	61	66	64		2978,3086,3017,3002,3191	2.8	1	16	dbSNP_134	64	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense	BAIAP3	NM_001199096.1,NM_001199097.1,NM_001199098.1,NM_001199099.1,NM_003933.4	29,29,29,29,29	0,2,6496	AA,AG,GG	NA	0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	993/1117,1029/1153,1006/1130,1001/1125,1064/1188	1397955	2,12994	2198	4300	6498	SO:0001583	missense			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516	8938	8938			948	protein-coding gene	gene with protein product		604009			NA	9790924	Standard		NM_003933	NA	Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000421665.2:c.2978G>A	16.37:g.1397955G>A	ENSP00000409533:p.Arg993His	NA	B2RCD7|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	37	CCDS55979.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.212959	0.39102	0.0	2.33E-4	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38	4.75	2.77	0.32553	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.157023	0.42548	N	0.000693	T	0.42291	0.1196	N	0.10685	0.025	0.38294	D	0.942807	B;B;B;B	0.18310	0.027;0.027;0.027;0.027	B;B;B;B	0.14578	0.003;0.006;0.011;0.006	T	0.28839	-1.0031	10	0.56958	D	0.05	-24.6693	7.0705	0.25175	0.2877:0.0:0.7123:0.0	.	993;1006;1064;1046	E7EUB9;B4DIK3;O94812;A2A2B2	.;.;BAIP3_HUMAN;.	H	1029;1046;1064;1046;993	ENSP00000407242:R1029H;ENSP00000380625:R1046H;ENSP00000324510:R1064H;ENSP00000380626:R1046H;ENSP00000409533:R993H	ENSP00000324510:R1064H	R	+	2	0	BAIAP3	1337956	0.989000	0.36119	1.000000	0.80357	0.913000	0.54294	0.847000	0.27696	0.421000	0.25980	0.561000	0.74099	CGC	BAIAP3-007	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432010.1		+	ENST00000421665.2	Missense_Mutation	SNP	16 : 1397955 - 1397955 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	867	150
CEACAM18	729767	broad.mit.edu	37	19	51983672	51983672	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51983672C>T	ENST00000396477.4	+	2	159	c.138C>T	c.(136-138)gtC>gtT	p.V46V	CEACAM18_ENST00000451626.1_Silent_p.V107V	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	107						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ATCGGACTGTCGTGGCCCTGG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	51	52			NA	NA	19		NA											NA				51983672		1998	4153	6151	SO:0001819	synonymous_variant					19q13.41	2013-01-29				ENSG00000213822	729767	729767		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	31949	protein-coding gene	gene with protein product					NA		Standard		NM_001278392	NA	Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.138C>T	19.37:g.51983672C>T		NA	C9JN24	37																																																																																				CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000323114.2		+	ENST00000396477.4	Silent	SNP	19 : 51983672 - 51983672 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	92	18
TSHZ2	128553	broad.mit.edu	37	20	51870294	51870294	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:51870294C>T	ENST00000371497.5	+	2	1184	c.297C>T	c.(295-297)tgC>tgT	p.C99C	TSHZ2_ENST00000603338.2_Silent_p.C96C|TSHZ2_ENST00000329613.6_Silent_p.C96C	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	99					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGAGTGTCTGCGGCAGAGATG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	0,4406		0,0,2203	92	79	83		288,297	-1.2	0.8	20		83	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	TSHZ2	NM_001193421.1,NM_173485.5	,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,	96/1032,99/1035	51870294	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463	128553	128553		Teashirt zinc fingers, Homeoboxes / ZF class, Zinc fingers, C2H2-type	13010	protein-coding gene	gene with protein product		614118	chromosome 20 open reading frame 17, zinc finger protein 218, teashirt family zinc finger 2	C20orf17, ZNF218	NA	9671742	Standard	NM_173485	NM_173485	NA	Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.297C>T	20.37:g.51870294C>T		NA	Q4VXM4|Q6N003|Q8N260	37	CCDS33490.1																																																																																			TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080398.6		+	ENST00000371497.5	Silent	SNP	20 : 51870294 - 51870294 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	295	50
UBXN4	23190	broad.mit.edu	37	2	136513182	136513182	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136513182T>G	ENST00000272638.9	+	5	740	c.429T>G	c.(427-429)acT>acG	p.T143T	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	143					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						CTAACAACACTTGTGAAAACT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	99	101			NA	NA	2		NA											NA				136513182		1852	4116	5968	SO:0001819	synonymous_variant			D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224	23190	23190		UBX domain containing	14860	protein-coding gene	gene with protein product	erasin	611216	UBX domain-containing 2, UBX domain containing 2	UBXDC1, UBXD2	NA	16968747	Standard	NM_014607	NM_014607	NA	Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.429T>G	2.37:g.136513182T>G		NA	A8K9W4|Q4ZG56|Q8IYM5	37	CCDS42761.1																																																																																			UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331696.1		+	ENST00000272638.9	Silent	SNP	2 : 136513182 - 136513182 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	382	99
CTR9	9646	broad.mit.edu	37	11	10793106	10793106	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10793106T>C	ENST00000361367.2	+	19	2813	c.2387T>C	c.(2386-2388)tTg>tCg	p.L796S		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	796					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TTCAGTTATTTGAGTAAAGTG	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	156	156			NA	NA	11		NA											NA				10793106		2201	4294	6495	SO:0001583	missense			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730	9646	9646		Tetratricopeptide (TTC) repeat domain containing	16850	protein-coding gene	gene with protein product		609366	SH2 domain binding protein 1 (tetratricopeptide repeat containing), Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	SH2BP1	NA	8590280, 8636124	Standard	NM_014633	NM_014633	NA	Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.2387T>C	11.37:g.10793106T>C	ENSP00000355013:p.Leu796Ser	NA	D3DQV8|Q15015	37	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.432723	0.83776	.	.	ENSG00000198730	ENST00000361367	T	0.60797	0.16	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.80053	0.4553	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.84111	0.0401	10	0.87932	D	0	-10.9708	15.8948	0.79326	0.0:0.0:0.0:1.0	.	796	Q6PD62	CTR9_HUMAN	S	796	ENSP00000355013:L796S	ENSP00000355013:L796S	L	+	2	0	CTR9	10749682	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.928000	0.87587	2.219000	0.72066	0.528000	0.53228	TTG	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386215.1		+	ENST00000361367.2	Missense_Mutation	SNP	11 : 10793106 - 10793106 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	801	150
NINL	22981	broad.mit.edu	37	20	25457376	25457376	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25457376G>A	ENST00000278886.6	-	17	2624	c.2551C>T	c.(2551-2553)Ccg>Tcg	p.P851S	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	851					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCACAGCCCGGACGCAGTGGT	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	18	18			NA	NA	20		NA											NA				25457376		2195	4289	6484	SO:0001583	missense				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004	22981	22981		EF-hand domain containing	29163	protein-coding gene	gene with protein product	ninein-like protein	609580			NA	10231032	Standard	NM_025176	XM_005260678	NA	Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.2551C>T	20.37:g.25457376G>A	ENSP00000278886:p.Pro851Ser	NA	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	37	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	G	8.722	0.914602	0.17907	.	.	ENSG00000101004	ENST00000278886	T	0.30448	1.53	2.44	1.47	0.22746	.	0.385935	0.21657	N	0.071096	T	0.15349	0.0370	N	0.24115	0.695	0.09310	N	1	P	0.48834	0.916	B	0.42522	0.39	T	0.16158	-1.0412	10	0.06494	T	0.89	-1.3398	6.899	0.24273	0.0:0.3611:0.6389:0.0	.	851	Q9Y2I6	NINL_HUMAN	S	851	ENSP00000278886:P851S	ENSP00000278886:P851S	P	-	1	0	NINL	25405376	0.001000	0.12720	0.009000	0.14445	0.001000	0.01503	0.438000	0.21559	0.604000	0.29930	0.561000	0.74099	CCG	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078445.3		-	ENST00000278886.6	Missense_Mutation	SNP	20 : 25457376 - 25457376 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	184	38
MYO1B	4430	broad.mit.edu	37	2	192267420	192267420	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:192267420T>G	ENST00000392318.3	+	24	2779	c.2532T>G	c.(2530-2532)atT>atG	p.I844M	MYO1B_ENST00000304164.4_Missense_Mutation_p.I844M|MYO1B_ENST00000439065.2_Missense_Mutation_p.I89M|MYO1B_ENST00000392316.1_Missense_Mutation_p.I815M|MYO1B_ENST00000339514.4_Intron	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	844	IQ 6.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TTGCTGTCATTTGGGCTTACT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	140	151			NA	NA	2		NA											NA				192267420		1568	3582	5150	SO:0001583	missense			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641	4430	4430		Myosins / Myosin superfamily : Class I	7596	protein-coding gene	gene with protein product		606537			NA	8022818, 8449985	Standard	NM_012223	NM_012223	NA	Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.2532T>G	2.37:g.192267420T>G	ENSP00000376132:p.Ile844Met	NA	O43794|Q7Z6L5	37	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.314215	0.81358	.	.	ENSG00000128641	ENST00000392318;ENST00000304164;ENST00000392316;ENST00000439065	D;D;T;T	0.88354	-2.37;-2.37;-1.28;-1.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.87763	0.6259	N	0.08118	0	0.54753	D	0.999982	D;D	0.59357	0.985;0.98	P;D	0.66979	0.724;0.948	D	0.90115	0.4195	10	0.56958	D	0.05	.	14.5673	0.68185	0.0:0.0:0.0:1.0	.	89;844	E7EPB4;O43795	.;MYO1B_HUMAN	M	844;844;815;89	ENSP00000376132:I844M;ENSP00000306382:I844M;ENSP00000376130:I815M;ENSP00000391442:I89M	ENSP00000306382:I844M	I	+	3	3	MYO1B	191975665	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.628000	0.67791	2.180000	0.69256	0.459000	0.35465	ATT	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334774.1		+	ENST00000392318.3	Missense_Mutation	SNP	2 : 192267420 - 192267420 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	131	58
CD163	9332	broad.mit.edu	37	12	7640253	7640253	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7640253G>A	ENST00000359156.4	-	8	1954	c.1752C>T	c.(1750-1752)cgC>cgT	p.R584R	CD163_ENST00000432237.2_Silent_p.R584R|CD163_ENST00000396620.3_Silent_p.R617R|CD163_ENST00000541972.1_Silent_p.R572R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	584	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CATTCACCAAGCGAATTTCTG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	72	72			NA	NA	12		NA											NA				7640253		2203	4300	6503	SO:0001819	synonymous_variant			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575	9332	9332		CD molecules	1631	protein-coding gene	gene with protein product		605545	CD163 antigen		NA	10403791, 8370408	Standard	NM_004244, NM_203416	NM_004244	NA	Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1752C>T	12.37:g.7640253G>A		NA	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	37	CCDS8578.1																																																																																			CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399396.2		-	ENST00000359156.4	Silent	SNP	12 : 7640253 - 7640253 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	459	13
LNPEP	4012	broad.mit.edu	37	5	96315306	96315306	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:96315306C>T	ENST00000231368.5	+	2	1176	c.484C>T	c.(484-486)Cca>Tca	p.P162S	LNPEP_ENST00000395770.3_Missense_Mutation_p.P148S	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	162					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		GAAATTGTTTCCATGGGCACA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	87	88			NA	NA	5		NA											NA				96315306		2203	4300	6503	SO:0001583	missense			D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	4012	4012	3.4.11.3		6656	protein-coding gene	gene with protein product	cystinyl aminopeptidase, placental leucine aminopeptidase	151300			NA	8550619	Standard	NM_005575	NM_175920	NA	Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.484C>T	5.37:g.96315306C>T	ENSP00000231368:p.Pro162Ser	NA	O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	37	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223506	0.58668	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.04360	3.64;3.64	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.14917	0.0360	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	T	0.00477	-1.1716	10	0.72032	D	0.01	.	20.2672	0.98462	0.0:1.0:0.0:0.0	.	162	Q9UIQ6	LCAP_HUMAN	S	162;148	ENSP00000231368:P162S;ENSP00000379117:P148S	ENSP00000231368:P162S	P	+	1	0	LNPEP	96341062	1.000000	0.71417	0.994000	0.49952	0.047000	0.14425	7.252000	0.78309	2.894000	0.99253	0.591000	0.81541	CCA	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250624.1		+	ENST00000231368.5	Missense_Mutation	SNP	5 : 96315306 - 96315306 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	580	115
CDH8	1006	broad.mit.edu	37	16	61761071	61761071	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:61761071T>C	ENST00000299345.6	-	9	2417	c.1463A>G	c.(1462-1464)gAt>gGt	p.D488G	CDH8_ENST00000577390.1_Missense_Mutation_p.D488G|CDH8_ENST00000577730.1_Missense_Mutation_p.D488G|CDH8_ENST00000584337.1_Missense_Mutation_p.D488G			P55286	CADH8_HUMAN	cadherin 8, type 2	488	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GTCATTGACATCCAGCACTTT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													191	174	180			NA	NA	16		NA											NA				61761071		2203	4299	6502	SO:0001583	missense			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394	1006	1006		Cadherins / Major cadherins	1767	protein-coding gene	gene with protein product		603008			NA	9615235, 2059658	Standard	NM_001796	NM_001796	NA	Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000299345.6:c.1463A>G	16.37:g.61761071T>C	ENSP00000299345:p.Asp488Gly	NA	B3KWC1|Q14DC6|Q9ULB2	37		.	.	.	.	.	.	.	.	.	.	T	28.2	4.900754	0.92035	.	.	ENSG00000150394	ENST00000299345	T	0.02944	4.1	5.75	5.75	0.90469	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.30386	0.0763	H	0.98918	4.37	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.979;0.994	T	0.56956	-0.7893	10	0.87932	D	0	.	16.0588	0.80822	0.0:0.0:0.0:1.0	.	304;488	Q3LID3;P55286	.;CADH8_HUMAN	G	488	ENSP00000299345:D488G	ENSP00000299345:D488G	D	-	2	0	CDH8	60318572	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.393000	0.79851	2.192000	0.70111	0.528000	0.53228	GAT	CDH8-013	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000431170.1		-	ENST00000299345.6	Missense_Mutation	SNP	16 : 61761071 - 61761071 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	890	178
SHMT2	6472	broad.mit.edu	37	12	57625629	57625629	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57625629G>A	ENST00000328923.3	+	4	897	c.445G>A	c.(445-447)Gcc>Acc	p.A149T	SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000414700.3_Missense_Mutation_p.A128T|SHMT2_ENST00000557487.1_Missense_Mutation_p.A149T|SHMT2_ENST00000449049.3_Missense_Mutation_p.A128T|SHMT2_ENST00000393827.4_Nonsense_Mutation_p.W43*|SHMT2_ENST00000553474.1_Missense_Mutation_p.A128T	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	149						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	AGCCAACCTGGCCGTCTACAC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(150;1369 2416 49071 49364)							NA				0													52	48	49			NA	NA	12		NA											NA				57625629		2203	4300	6503	SO:0001583	missense			AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	6472	6472	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT	NA	8999870	Standard	NM_005412	NM_005412	NA	Approved		uc001snf.2	P34897		ENST00000328923.3:c.445G>A	12.37:g.57625629G>A	ENSP00000333667:p.Ala149Thr	NA	O00740	37	CCDS8934.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.776594|5.776594	0.96929|0.96929	.|.	.|.	ENSG00000182199|ENSG00000182199	ENST00000328923;ENST00000557487;ENST00000556689;ENST00000414700;ENST00000557703;ENST00000553529;ENST00000554310;ENST00000557427;ENST00000553474;ENST00000555773;ENST00000554975;ENST00000449049;ENST00000556737|ENST00000393827	T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.46451|.	1.35;0.87;0.87;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35|.	4.72|4.72	4.72|4.72	0.59763|0.59763	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.84000|.	0.5376|.	M|M	0.89840|0.89840	3.065|3.065	0.80722|0.80722	A|A	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.998;0.999;1.0|.	D|.	0.87028|.	0.2133|.	9|.	0.54805|0.59425	T|D	0.06|0.04	-14.0511|-14.0511	16.9817|16.9817	0.86329|0.86329	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	158;149;149|.	B4DWA7;Q8N1A5;P34897|.	.;.;GLYM_HUMAN|.	T|X	149;149;149;128;128;128;128;128;128;128;128;128;128|43	ENSP00000333667:A149T;ENSP00000452315:A149T;ENSP00000452035:A149T;ENSP00000406881:A128T;ENSP00000450452:A128T;ENSP00000452161:A128T;ENSP00000450893:A128T;ENSP00000452045:A128T;ENSP00000452419:A128T;ENSP00000451968:A128T;ENSP00000452404:A128T;ENSP00000413770:A128T;ENSP00000451495:A128T|.	ENSP00000333667:A149T|ENSP00000377413:W43X	A|W	+|+	1|3	0|0	SHMT2|SHMT2	55911896|55911896	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.942000|0.942000	0.58702|0.58702	9.657000|9.657000	0.98554|0.98554	2.619000|2.619000	0.88677|0.88677	0.561000|0.561000	0.74099|0.74099	GCC|TGG	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412525.2		+	ENST00000328923.3	Missense_Mutation	SNP	12 : 57625629 - 57625629 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	151	30
LRIG2	9860	broad.mit.edu	37	1	113657135	113657135	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113657135C>A	ENST00000361127.5	+	15	2365	c.2167C>A	c.(2167-2169)Cct>Act	p.P723T	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	NA	Ig-like C2-type 3.					cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TGGAGGGAGTCCTGCCCCTCG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	91	93			NA	NA	1		NA											NA				113657135		2203	4300	6503	SO:0001583	missense			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799	9860	9860		Immunoglobulin superfamily / I-set domain containing	20889	protein-coding gene	gene with protein product		608869			NA		Standard	NM_014813	XM_005271369	NA	Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2167C>A	1.37:g.113657135C>A	ENSP00000355396:p.Pro723Thr	NA	Q9NSN2	37	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617751	0.87359	.	.	ENSG00000198799	ENST00000361127	T	0.74315	-0.83	5.3	5.3	0.74995	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90546	0.7037	H	0.96633	3.855	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.93558	0.6892	10	0.87932	D	0	.	18.9455	0.92621	0.0:1.0:0.0:0.0	.	723	O94898	LRIG2_HUMAN	T	723	ENSP00000355396:P723T	ENSP00000355396:P723T	P	+	1	0	LRIG2	113458658	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	7.818000	0.86416	2.461000	0.83175	0.561000	0.74099	CCT	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033549.2		+	ENST00000361127.5	Missense_Mutation	SNP	1 : 113657135 - 113657135 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	345	30
ADAMTS18	170692	broad.mit.edu	37	16	77398216	77398216	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77398216G>A	ENST00000282849.5	-	5	1259	c.841C>T	c.(841-843)Cga>Tga	p.R281*		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	281					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTTCTGGGTCGCCCAGAGCTC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	77	78			NA	NA	16		NA											NA				77398216		2198	4300	6498	SO:0001587	stop_gained			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873	170692	170692		ADAM metallopeptidases with thrombospondin type 1 motif	17110	protein-coding gene	gene with protein product		607512	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18	ADAMTS21	NA	11867212, 17546048	Standard		NM_199355	NA	Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.841C>T	16.37:g.77398216G>A	ENSP00000282849:p.Arg281*	NA	Q6P4R5|Q6ZWJ9	37	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	37	6.521404	0.97633	.	.	ENSG00000140873	ENST00000282849	.	.	.	5.17	0.466	0.16716	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3354	0.74247	0.0:0.0:0.2693:0.7307	.	.	.	.	X	281	.	ENSP00000282849:R281X	R	-	1	2	ADAMTS18	75955717	0.004000	0.15560	0.823000	0.32752	0.966000	0.64601	0.095000	0.15127	0.251000	0.21505	-0.282000	0.10007	CGA	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269037.1		-	ENST00000282849.5	Nonsense_Mutation	SNP	16 : 77398216 - 77398216 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	94
CREBZF	58487	broad.mit.edu	37	11	85375468	85375468	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85375468G>A	ENST00000527447.1	-	1	678	c.452C>T	c.(451-453)gCc>gTc	p.A151V	CREBZF_ENST00000398294.2_Missense_Mutation_p.A69V|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	151					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				AGCAGCCGCGGCCTCATCGTC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(172;674 2044 9050 18334 41735)							NA				0													26	30	29			NA	NA	11		NA											NA				85375468		2015	4189	6204	SO:0001583	missense			AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504	58487	58487		basic leucine zipper proteins	24905	protein-coding gene	gene with protein product	Zhangfei	606444			NA	10871379	Standard	NM_001039618	NM_001039618	NA	Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.452C>T	11.37:g.85375468G>A	ENSP00000433459:p.Ala151Val	NA	B2R8Q9|Q0P5U9|Q52LT3	37	CCDS41697.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349764	0.61183	.	.	ENSG00000137504	ENST00000398294;ENST00000527447	.	.	.	4.56	4.56	0.56223	.	0.236704	0.24345	N	0.039330	T	0.24967	0.0606	N	0.14661	0.345	0.26011	N	0.98199	B	0.23377	0.084	B	0.18871	0.023	T	0.09271	-1.0682	8	.	.	.	-25.8693	12.725	0.57166	0.0:0.0:1.0:0.0	.	151	Q9NS37	ZHANG_HUMAN	V	69;151	.	.	A	-	2	0	CREBZF	85053116	0.998000	0.40836	0.995000	0.50966	0.699000	0.40488	1.618000	0.36954	2.366000	0.80165	0.561000	0.74099	GCC	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390191.2		-	ENST00000527447.1	Missense_Mutation	SNP	11 : 85375468 - 85375468 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	298	85
SEC61G	23480	broad.mit.edu	37	7	54825203	54825203	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:54825203T>G	ENST00000415949.1	-	3	445	c.79A>C	c.(79-81)Aaa>Caa	p.K27Q	SEC61G_ENST00000395535.3_Missense_Mutation_p.K27Q|SEC61G_ENST00000352861.4_Missense_Mutation_p.K27Q|SEC61G_ENST00000450622.1_Missense_Mutation_p.K27Q			P60059	SC61G_HUMAN	Sec61 gamma subunit	27					protein targeting to ER	endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			kidney(1)|lung(5)	6	Esophageal squamous(2;7.55e-08)|Breast(14;0.0654)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)			CTATCAGGTTTAGTGCATCTT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	112	115			NA	NA	7		NA											NA				54825203		2203	4300	6503	SO:0001583	missense			AF086539	CCDS5513.1	7p11.2	2014-05-19			ENSG00000132432	ENSG00000132432	23480	23480			18277	protein-coding gene	gene with protein product		609215			NA	8107851, 10212142	Standard	NM_014302	NM_014302	NA	Approved	SSS1	uc003tqg.3	P60059	OTTHUMG00000023430	ENST00000415949.1:c.79A>C	7.37:g.54825203T>G	ENSP00000388337:p.Lys27Gln	NA	B2R4J0|P38384|Q6IB25	37	CCDS5513.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.428133	0.83667	.	.	ENSG00000132432	ENST00000395535;ENST00000352861;ENST00000415949;ENST00000450622	.	.	.	5.51	5.51	0.81932	Protein translocase SecE domain (2);	0.000000	0.85682	D	0.000000	T	0.67915	0.2944	.	.	.	0.80722	D	1	B	0.32188	0.359	B	0.44133	0.442	T	0.70894	-0.4748	8	0.87932	D	0	-5.6354	13.5768	0.61879	0.0:0.0:0.0:1.0	.	27	P60059	SC61G_HUMAN	Q	27	.	ENSP00000341538:K27Q	K	-	1	0	SEC61G	54792697	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.448000	0.80631	2.093000	0.63338	0.533000	0.62120	AAA	SEC61G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251384.2		-	ENST00000415949.1	Missense_Mutation	SNP	7 : 54825203 - 54825203 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	66
SKIV2L	6499	broad.mit.edu	37	6	31936211	31936211	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31936211C>G	ENST00000375394.2	+	24	3078	c.2965C>G	c.(2965-2967)Cag>Gag	p.Q989E	SKIV2L_ENST00000544581.1_Missense_Mutation_p.Q796E	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	989						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CAATGACCTGCAGCTCAAAGA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	75	70			NA	NA	6		NA											NA				31936211		1509	2707	4216	SO:0001583	missense				CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351	6499	6499			10898	protein-coding gene	gene with protein product		600478	superkiller viralicidic activity 2 (S. cerevisiae homolog)-like	SKIV2	NA	7759100, 9799600	Standard		XM_006715168	NA	Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.2965C>G	6.37:g.31936211C>G	ENSP00000364543:p.Gln989Glu	NA	O15005|Q12902|Q15476|Q5ST66	37	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.878536	0.33162	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.46451	0.99;0.87	5.14	5.14	0.70334	.	0.164519	0.56097	D	0.000030	T	0.32406	0.0828	L	0.50333	1.59	0.37894	D	0.930823	P	0.43542	0.81	B	0.43478	0.421	T	0.09796	-1.0658	10	0.37606	T	0.19	-22.6152	17.7336	0.88386	0.0:1.0:0.0:0.0	.	989	Q15477	SKIV2_HUMAN	E	989;831;796	ENSP00000364543:Q989E;ENSP00000442645:Q796E	ENSP00000364543:Q989E	Q	+	1	0	SKIV2L	32044190	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.574000	0.74014	2.549000	0.85964	0.655000	0.94253	CAG	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076264.3		+	ENST00000375394.2	Missense_Mutation	SNP	6 : 31936211 - 31936211 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	581	96
BAG1	573	broad.mit.edu	37	9	33264396	33264396	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33264396T>C	ENST00000379704.2	-	0	365				BAG1_ENST00000472232.3_Missense_Mutation_p.T93A			Q99933	BAG1_HUMAN	BCL2-associated athanogene	NA					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00506)			TCACTCAGGGTCAACTCCTCG	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(77;1066 1502 5858 12192)							NA				0													68	61	63			NA	NA	9		NA											NA				33264396		2203	4300	6503	SO:0001623	5_prime_UTR_variant			AF022224	CCDS35004.1, CCDS55301.1	9p12	2010-12-09			ENSG00000107262	ENSG00000107262	573	573			937	protein-coding gene	gene with protein product		601497			NA	7834747	Standard	NM_004323	NM_004323	NA	Approved		uc003zsj.3	Q99933	OTTHUMG00000019766	ENST00000379704.2:c.-69A>G	9.37:g.33264396T>C		NA	O75315|Q14414|Q53H32|Q5VZE8|Q5VZE9|Q5VZF0|Q96TG2|Q9Y2V4	37	CCDS55301.1	.	.	.	.	.	.	.	.	.	.	T	10.58	1.390391	0.25118	.	.	ENSG00000107262	ENST00000472232	.	.	.	3.11	-6.23	0.02052	.	1.430360	0.04945	N	0.459341	T	0.18341	0.0440	N	0.24115	0.695	0.22199	N	0.999295	B	0.02656	0.0	B	0.04013	0.001	T	0.11227	-1.0596	9	0.40728	T	0.16	1.6674	0.2882	0.00255	0.3607:0.1928:0.2285:0.218	.	93	Q99933	BAG1_HUMAN	A	93	.	ENSP00000420514:T93A	T	-	1	0	BAG1	33254396	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	-0.981000	0.03766	-2.268000	0.00685	-1.281000	0.01382	ACC	BAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052042.3		-	ENST00000379704.2	5'UTR	SNP	9 : 33264396 - 33264396 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	310	55
FAM179B	23116	broad.mit.edu	37	14	45433278	45433278	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45433278G>A	ENST00000361462.2	+	1	1837	c.1654G>A	c.(1654-1656)Gct>Act	p.A552T	FAM179B_ENST00000382233.2_Missense_Mutation_p.A552T|FAM179B_ENST00000361577.3_Missense_Mutation_p.A552T|KLHL28_ENST00000553817.1_5'UTR			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	552							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CCTTTTTAAAGCTGTGGATAC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	120	119			NA	NA	14		NA											NA				45433278		2203	4300	6503	SO:0001583	missense			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718	23116	23116			19959	protein-coding gene	gene with protein product			KIAA0423	KIAA0423	NA		Standard	XM_113781	XM_005267451	NA	Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361462.2:c.1654G>A	14.37:g.45433278G>A	ENSP00000354917:p.Ala552Thr	NA	Q68D66|Q6PG27	37		.	.	.	.	.	.	.	.	.	.	G	23.4	4.413625	0.83449	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.04551	3.6;3.6;3.6	4.47	4.47	0.54385	Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.16041	0.0386	L	0.46614	1.455	0.58432	D	0.999998	D;D;D;D	0.89917	0.99;1.0;1.0;0.99	D;D;D;D	0.91635	0.98;0.998;0.999;0.98	T	0.01349	-1.1378	10	0.42905	T	0.14	-12.3087	16.9161	0.86152	0.0:0.0:1.0:0.0	.	552;552;552;552	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	T	552	ENSP00000355045:A552T;ENSP00000354917:A552T;ENSP00000371668:A552T	ENSP00000354917:A552T	A	+	1	0	FAM179B	44503028	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.228000	0.95250	2.311000	0.77944	0.561000	0.74099	GCT	FAM179B-002	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000276792.1		+	ENST00000361462.2	Missense_Mutation	SNP	14 : 45433278 - 45433278 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	463	92
ZFHX4	79776	broad.mit.edu	37	8	77764883	77764883	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77764883C>A	ENST00000521891.2	+	10	6174	c.5726C>A	c.(5725-5727)gCc>gAc	p.A1909D	ZFHX4_ENST00000518282.1_Missense_Mutation_p.A1883D|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A1864D|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A1864D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1864						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGAAATGCTGCCAAAGCGTTA	0.458		NA								HNSCC(33;0.089)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	25	26			NA	NA	8		NA											NA				77764883		1896	4109	6005	SO:0001583	missense				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656	79776	79776		Homeoboxes / ZF class	30939	protein-coding gene	gene with protein product		606940	zinc finger homeodomain 4		NA	10873665, 11935336	Standard	NM_024721	NM_024721	NA	Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.5726C>A	8.37:g.77764883C>A	ENSP00000430497:p.Ala1909Asp	NA	Q18PS0|Q6ZN20	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279827	0.59758	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.53423	0.62;0.68;0.64;0.63	4.71	4.71	0.59529	.	0.000000	0.41823	U	0.000808	T	0.54598	0.1868	M	0.68952	2.095	0.80722	D	1	P;P;P	0.51351	0.906;0.944;0.944	B;P;P	0.47573	0.348;0.55;0.55	T	0.54820	-0.8236	10	0.32370	T	0.25	.	18.2749	0.90080	0.0:1.0:0.0:0.0	.	1864;1864;1909	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	D	1909;1909;1864;1864;1883	ENSP00000430497:A1909D;ENSP00000399605:A1864D;ENSP00000050961:A1864D;ENSP00000430848:A1883D	ENSP00000050961:A1864D	A	+	2	0	ZFHX4	77927438	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.594000	0.82698	2.631000	0.89168	0.632000	0.83419	GCC	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379197.2		+	ENST00000521891.2	Missense_Mutation	SNP	8 : 77764883 - 77764883 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	116	19
OVCH1	341350	broad.mit.edu	37	12	29629167	29629167	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29629167G>A	ENST00000318184.5	-	13	1442	c.1443C>T	c.(1441-1443)taC>taT	p.Y481Y	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	481	CUB 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CAGAATCACCGTAAATCACAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													193	184	187			NA	NA	12		NA											NA				29629167		1885	4115	6000	SO:0001819	synonymous_variant			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950	341350	341350			23080	protein-coding gene	gene with protein product					NA	12838346	Standard	NM_183378	NM_183378	NA	Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1443C>T	12.37:g.29629167G>A		NA		37																																																																																				OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000395997.2		-	ENST00000318184.5	Silent	SNP	12 : 29629167 - 29629167 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	902	134
MYO18B	84700	broad.mit.edu	37	22	26165028	26165028	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26165028C>A	ENST00000407587.2	+	4	1314	c.1145C>A	c.(1144-1146)aCt>aAt	p.T382N	MYO18B_ENST00000335473.7_Missense_Mutation_p.T382N|MYO18B_ENST00000536101.1_Missense_Mutation_p.T382N			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	382						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGGAGCACGACTGGGAAGGCA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	41	40			NA	NA	22		NA											NA				26165028		2091	4217	6308	SO:0001583	missense			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454	84700	84700		Myosins / Myosin superfamily : Class XVIII	18150	protein-coding gene	gene with protein product		607295			NA	12209013, 12547197	Standard	NM_032608	NM_032608	NA	Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.1145C>A	22.37:g.26165028C>A	ENSP00000386096:p.Thr382Asn	NA	B2RWP3|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	37		.	.	.	.	.	.	.	.	.	.	C	10.53	1.375684	0.24857	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86562	-2.12;-2.12;-2.14	3.72	2.68	0.31781	.	3.390750	0.01089	N	0.005146	T	0.79058	0.4382	N	0.19112	0.55	0.09310	N	1	B;B;B	0.29037	0.148;0.231;0.231	B;B;B	0.25405	0.027;0.06;0.06	T	0.67428	-0.5673	10	0.45353	T	0.12	.	5.4493	0.16554	0.1972:0.6899:0.0:0.1129	.	382;382;382	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	N	382	ENSP00000441229:T382N;ENSP00000334563:T382N;ENSP00000386096:T382N	ENSP00000334563:T382N	T	+	2	0	MYO18B	24495028	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.134000	0.15932	0.839000	0.34971	0.491000	0.48974	ACT	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000400691.1		+	ENST00000407587.2	Missense_Mutation	SNP	22 : 26165028 - 26165028 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	114	19
EPPK1	83481	broad.mit.edu	37	8	144942172	144942172	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144942172G>A	ENST00000525985.1	-	2	5321	c.5250C>T	c.(5248-5250)ccC>ccT	p.P1750P				P58107	EPIPL_HUMAN	epiplakin 1	1750						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.P1750P(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCCCGTCTCGGGGTCCTCCA	0.547		NA												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)											100	104	102			NA	NA	8		NA											NA				144942172		2008	4162	6170	SO:0001819	synonymous_variant			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150	83481	83481			15577	protein-coding gene	gene with protein product	epidermal autoantigen 450K	607553			NA	11278896, 15671067	Standard	NM_031308	NM_031308	NA	Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.5250C>T	8.37:g.144942172G>A		NA	Q76E58	37																																																																																				EPPK1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000382675.1		-	ENST00000525985.1	Silent	SNP	8 : 144942172 - 144942172 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	544	99
LGALS3	3958	broad.mit.edu	37	14	55605066	55605066	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55605066G>T	ENST00000554715.1	+	3	367	c.322G>T	c.(322-324)Ggc>Tgc	p.G108C	LGALS3_ENST00000553755.1_3'UTR|LGALS3_ENST00000254301.9_Missense_Mutation_p.G108C			P17931	LEG3_HUMAN	lectin, galactoside-binding, soluble, 3	108	8 X 9 AA tandem repeats of Y-P-G-X(3)-P- G-A.				cell differentiation|innate immune response|mRNA processing|RNA splicing	mitochondrial inner membrane|plasma membrane|spliceosomal complex	IgE binding|sugar binding			central_nervous_system(1)|endometrium(1)|prostate(1)	3						TGGCCCCTATGGCGCCCCTGC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	23	22			NA	NA	14		NA											NA				55605066		1581	3657	5238	SO:0001583	missense			M64303	CCDS41956.1	14q22.3	2014-03-19	2007-02-01		ENSG00000131981	ENSG00000131981	3958	3958		Lectins, galactoside-binding, Endogenous ligands	6563	protein-coding gene	gene with protein product	galectin 3	153619		LGALS2	NA	2009535, 8063692	Standard	NM_002306	NR_003225	NA	Approved	MAC-2, GALIG	uc001xbr.3	P17931	OTTHUMG00000171030	ENST00000554715.1:c.322G>T	14.37:g.55605066G>T	ENSP00000451381:p.Gly108Cys	NA	B2RC38|Q16005|Q6IBA7|Q96J47	37		.	.	.	.	.	.	.	.	.	.	G	9.880	1.201404	0.22121	.	.	ENSG00000131981	ENST00000254301;ENST00000554715	T;T	0.09723	3.61;2.95	5.58	3.66	0.41972	.	2.278500	0.01719	N	0.028192	T	0.15955	0.0384	N	0.14661	0.345	0.19775	N	0.999956	D	0.71674	0.998	P	0.58013	0.831	T	0.30475	-0.9977	10	0.39692	T	0.17	-2.8531	8.0152	0.30376	0.2051:0.0:0.7949:0.0	.	108	P17931	LEG3_HUMAN	C	108	ENSP00000254301:G108C;ENSP00000451381:G108C	ENSP00000254301:G108C	G	+	1	0	LGALS3	54674819	0.466000	0.25823	0.236000	0.24074	0.389000	0.30415	1.162000	0.31786	1.266000	0.44231	0.655000	0.94253	GGC	LGALS3-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000411311.1		+	ENST00000554715.1	Missense_Mutation	SNP	14 : 55605066 - 55605066 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	194	9
KLHL1	57626	broad.mit.edu	37	13	70681635	70681635	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:70681635C>A	ENST00000377844.4	-	1	956	c.197G>T	c.(196-198)aGc>aTc	p.S66I	KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	66	Ser-rich.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCAGAAAGTGCTCACACCGCT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	93	90			NA	NA	13		NA											NA				70681635		2203	4300	6503	SO:0001583	missense			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361	57626	57626		Kelch-like, BTB/POZ domain containing	6352	protein-coding gene	gene with protein product	Kelch-like protein 1, Mayven-related protein 2	605332	kelch (Drosophila)-like 1, kelch-like 1 (Drosophila)		NA	10888605	Standard	NM_020866	NM_020866	NA	Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.197G>T	13.37:g.70681635C>A	ENSP00000367075:p.Ser66Ile	NA	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	37	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967163	0.34754	.	.	ENSG00000150361	ENST00000377844	T	0.73152	-0.72	5.19	5.19	0.71726	.	4.515440	0.00357	N	0.000035	T	0.65533	0.2700	N	0.22421	0.69	0.80722	D	1	B;B	0.24823	0.112;0.047	B;B	0.19148	0.024;0.024	T	0.16897	-1.0387	10	0.48119	T	0.1	.	15.6983	0.77517	0.0:1.0:0.0:0.0	.	66;66	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	I	66	ENSP00000367075:S66I	ENSP00000367075:S66I	S	-	2	0	KLHL1	69579636	0.996000	0.38824	1.000000	0.80357	0.844000	0.47949	5.094000	0.64523	2.435000	0.82474	0.650000	0.86243	AGC	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045231.3		-	ENST00000377844.4	Missense_Mutation	SNP	13 : 70681635 - 70681635 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	542	96
TMEM150A	129303	broad.mit.edu	37	2	85826704	85826704	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85826704G>T	ENST00000409668.1	-	6	985	c.518C>A	c.(517-519)gCt>gAt	p.A173D	TMEM150A_ENST00000334462.5_Missense_Mutation_p.A173D|TMEM150A_ENST00000306353.3_Missense_Mutation_p.A120D			Q86TG1	T150A_HUMAN	transmembrane protein 150A	173						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						ATAGGCCACAGCCAGGTCCAG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	73	74			NA	NA	2		NA											NA				85826704		2203	4300	6503	SO:0001583	missense			AK098152	CCDS33233.1	2p11.2	2009-06-12	2009-06-12	2009-06-12	ENSG00000168890	ENSG00000168890	129303	129303			24677	protein-coding gene	gene with protein product			transmembrane protein 150	TMEM150	NA	10858565	Standard	NM_153342	NM_001031738	NA	Approved	TM6P1, FLJ90024	uc002spy.2	Q86TG1	OTTHUMG00000130168	ENST00000409668.1:c.518C>A	2.37:g.85826704G>T	ENSP00000387292:p.Ala173Asp	NA	A8K764|B7WPQ9|D6W5L2|Q8N2R6	37	CCDS33233.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784993	0.31593	.	.	ENSG00000168890	ENST00000306353;ENST00000334462;ENST00000409668	T;T;T	0.44083	0.93;0.93;0.93	5.23	4.35	0.52113	.	0.105109	0.64402	D	0.000002	T	0.32285	0.0824	L	0.47716	1.5	0.26903	N	0.967064	P;B	0.39404	0.672;0.154	B;B	0.35073	0.195;0.124	T	0.13072	-1.0523	10	0.18710	T	0.47	-31.071	11.5548	0.50741	0.0878:0.0:0.9122:0.0	.	120;173	Q86TG1-2;Q86TG1	.;T150A_HUMAN	D	120;173;173	ENSP00000302715:A120D;ENSP00000334708:A173D;ENSP00000387292:A173D	ENSP00000302715:A120D	A	-	2	0	TMEM150A	85680215	0.923000	0.31300	0.960000	0.40013	0.986000	0.74619	1.599000	0.36751	1.200000	0.43188	0.561000	0.74099	GCT	TMEM150A-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329474.1		-	ENST00000409668.1	Missense_Mutation	SNP	2 : 85826704 - 85826704 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	483	125
GRIN2A	2903	broad.mit.edu	37	16	9862923	9862923	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:9862923G>T	ENST00000396573.2	-	13	2689	c.2380C>A	c.(2380-2382)Ctg>Atg	p.L794M	GRIN2A_ENST00000535259.1_Missense_Mutation_p.L637M|GRIN2A_ENST00000404927.2_Missense_Mutation_p.L794M|GRIN2A_ENST00000330684.3_Missense_Mutation_p.L794M|GRIN2A_ENST00000562109.1_Missense_Mutation_p.L794M|GRIN2A_ENST00000396575.2_Missense_Mutation_p.L794M	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	794					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTGAGCCACAGGGTCTCCAGC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	90	96			NA	NA	16		NA											NA				9862923		2197	4300	6497	SO:0001583	missense				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454	NA	2903		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4585	protein-coding gene	gene with protein product		138253		NMDAR2A	NA	9480759	Standard		XM_005255267	NA	Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2380C>A	16.37:g.9862923G>T	ENSP00000379818:p.Leu794Met	NA	O00669	37	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544199	0.65198	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69	4.45	4.45	0.53987	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.068047	0.64402	D	0.000012	T	0.30039	0.0752	N	0.25647	0.755	0.37532	D	0.917965	P;P;P	0.51653	0.835;0.947;0.776	P;P;P	0.59825	0.676;0.864;0.567	T	0.08848	-1.0702	9	.	.	.	.	10.1679	0.42890	0.0923:0.0:0.9077:0.0	.	637;794;794	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	M	794;794;637;794;794	ENSP00000379818:L794M;ENSP00000385872:L794M;ENSP00000441572:L637M;ENSP00000332549:L794M;ENSP00000379820:L794M	.	L	-	1	2	GRIN2A	9770424	1.000000	0.71417	0.920000	0.36463	0.966000	0.64601	5.549000	0.67261	2.163000	0.67991	0.563000	0.77884	CTG	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251930.3		-	ENST00000396573.2	Missense_Mutation	SNP	16 : 9862923 - 9862923 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	418	70
IRX2	153572	broad.mit.edu	37	5	2749548	2749548	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2749548G>A	ENST00000502957.1	-	0	550				IRX2_ENST00000382611.6_Silent_p.D201D|IRX2_ENST00000302057.5_Silent_p.D201D			Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	NA						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CGGGACTCTCGTCCTTGCTTC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	93	96			NA	NA	5		NA											NA				2749548		2203	4300	6503	SO:0001623	5_prime_UTR_variant			AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561	153572	153572		Homeoboxes / TALE class	14359	protein-coding gene	gene with protein product		606198			NA	11435706	Standard		NM_033267	NA	Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000502957.1:c.-295C>T	5.37:g.2749548G>A		NA	Q68A19|Q7Z2I7	37																																																																																				IRX2-003	KNOWN	mRNA_end_NF|basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000365963.2		-	ENST00000502957.1	5'UTR	SNP	5 : 2749548 - 2749548 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	286	55
TGM3	7053	broad.mit.edu	37	20	2308989	2308989	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2308989G>A	ENST00000381458.5	+	9	1374	c.1311G>A	c.(1309-1311)acG>acA	p.T437T		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	437					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TGGACGTCACGGACAAGTACA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	72	77			NA	NA	20		NA											NA				2308989		2203	4300	6503	SO:0001819	synonymous_variant			L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	7053	7053	2.3.2.13	Transglutaminases	11779	protein-coding gene	gene with protein product	E polypeptide, protein-glutamine-gamma-glutamyltransferase	600238	transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)		NA	7851911, 9452468	Standard	NM_003245	NM_003245	NA	Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1311G>A	20.37:g.2308989G>A		NA	A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	37	CCDS33435.1																																																																																			TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077579.2		+	ENST00000381458.5	Silent	SNP	20 : 2308989 - 2308989 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	275	46
FERMT3	83706	broad.mit.edu	37	11	63978299	63978299	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63978299C>T	ENST00000279227.5	+	3	472	c.377C>T	c.(376-378)gCc>gTc	p.A126V	FERMT3_ENST00000345728.5_Missense_Mutation_p.A126V	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	126					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GCTGTGGCTGCCATCTGCCGC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	58	55			NA	NA	11		NA											NA				63978299		2201	4297	6498	SO:0001583	missense			L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781	83706	83706		Fermitins, Pleckstrin homology (PH) domain containing	23151	protein-coding gene	gene with protein product	kindlin-3	607901	fermitin family homolog 3 (Drosophila)		NA		Standard	NM_031471	NM_178443	NA	Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.377C>T	11.37:g.63978299C>T	ENSP00000279227:p.Ala126Val	NA	Q8IUA1|Q8N207|Q9BT48	37	CCDS8060.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449334	0.43531	.	.	ENSG00000149781	ENST00000544997;ENST00000345728;ENST00000279227	T;T;T	0.14640	2.49;2.49;2.49	3.68	0.445	0.16597	Band 4.1 domain (1);	0.159347	0.42964	D	0.000624	T	0.09512	0.0234	L	0.38175	1.15	0.32276	N	0.568278	B;B	0.19445	0.036;0.008	B;B	0.25140	0.058;0.011	T	0.14062	-1.0486	10	0.31617	T	0.26	-11.6903	6.2277	0.20718	0.6032:0.2977:0.0:0.0991	.	126;126	Q86UX7-2;Q86UX7	.;URP2_HUMAN	V	126	ENSP00000445778:A126V;ENSP00000339950:A126V;ENSP00000279227:A126V	ENSP00000279227:A126V	A	+	2	0	FERMT3	63734875	1.000000	0.71417	0.816000	0.32577	0.992000	0.81027	1.490000	0.35573	0.004000	0.14682	0.555000	0.69702	GCC	FERMT3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396297.1		+	ENST00000279227.5	Missense_Mutation	SNP	11 : 63978299 - 63978299 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	713	131
DIO3	1735	broad.mit.edu	37	14	102028036	102028036	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102028036G>A	ENST00000510508.4	+	1	349	c.203G>A	c.(202-204)cGc>cAc	p.R68H	DIO3_ENST00000359323.3_Missense_Mutation_p.R42H			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	42					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				TTGTGTATCCGCAAGCATTTC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	49	48			NA	NA	14		NA											NA				102028036		2001	4154	6155	SO:0001583	missense			S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406	1735	1735			2885	protein-coding gene	gene with protein product		601038		TXDI3	NA	9787088, 7593630	Standard	NM_001362	NM_001362	NA	Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.203G>A	14.37:g.102028036G>A	ENSP00000427336:p.Arg68His	NA	Q8WVN5	37	CCDS41992.2	.	.	.	.	.	.	.	.	.	.	g	18.92	3.724684	0.68959	.	.	ENSG00000197406;ENSG00000258865	ENST00000359323;ENST00000510508	T;T	0.34859	1.34;1.34	3.19	3.19	0.36642	.	0.000000	0.52532	U	0.000079	T	0.60792	0.2296	M	0.83118	2.625	0.38816	D	0.955529	D	0.89917	1.0	D	0.91635	0.999	T	0.69109	-0.5232	10	0.54805	T	0.06	.	13.1046	0.59239	0.0:0.0:1.0:0.0	.	42	P55073	IOD3_HUMAN	H	42;68	ENSP00000352273:R42H;ENSP00000427336:R68H	ENSP00000352273:R68H	R	+	2	0	DIO3;AL049836.1	101097789	1.000000	0.71417	1.000000	0.80357	0.411000	0.31082	9.485000	0.97942	1.603000	0.50134	0.450000	0.29827	CGC	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	NA	protein_coding	OTTHUMT00000361712.4		+	ENST00000510508.4	Missense_Mutation	SNP	14 : 102028036 - 102028036 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	567	72
ZNF846	162993	broad.mit.edu	37	19	9869139	9869139	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9869139C>A	ENST00000397902.2	-	6	1027	c.614G>T	c.(613-615)aGa>aTa	p.R205I	ZNF846_ENST00000592859.1_Missense_Mutation_p.R76I|ZNF846_ENST00000588267.1_Missense_Mutation_p.R76I|ZNF846_ENST00000586293.1_3'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						AAGAAAAGTTCTCCAACAGTC	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	123	122			NA	NA	19		NA											NA				9869139		1997	4182	6179	SO:0001583	missense			AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605	162993	162993		Zinc fingers, C2H2-type, -	27260	protein-coding gene	gene with protein product					NA		Standard	NM_001077624	NM_001077624	NA	Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.614G>T	19.37:g.9869139C>A	ENSP00000380999:p.Arg205Ile	NA	A8K0H1|B3KUP1	37	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	13.43	2.235018	0.39498	.	.	ENSG00000196605	ENST00000397902	T	0.38887	1.11	1.9	-1.57	0.08506	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33411	0.0862	L	0.59436	1.845	0.09310	N	1	D	0.56521	0.976	B	0.41299	0.353	T	0.23868	-1.0176	8	.	.	.	.	6.1997	0.20569	0.0:0.3568:0.0:0.6432	.	205	Q147U1	ZN846_HUMAN	I	205	ENSP00000380999:R205I	.	R	-	2	0	ZNF846	9730139	0.002000	0.14202	0.000000	0.03702	0.144000	0.21451	0.490000	0.22403	-0.348000	0.08286	0.558000	0.71614	AGA	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450253.1		-	ENST00000397902.2	Missense_Mutation	SNP	19 : 9869139 - 9869139 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	351	53
MAP3K15	389840	broad.mit.edu	37	X	19379653	19379653	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:19379653G>A	ENST00000359173.3	-	24	3065	c.2043C>T	c.(2041-2043)gaC>gaT	p.D681D	PDHA1_ENST00000545074.1_3'UTR|MAP3K15_ENST00000518578.1_5'UTR|PDHA1_ENST00000422285.2_3'UTR|MAP3K15_ENST00000338883.4_Silent_p.D1246D|MAP3K15_ENST00000469203.2_Silent_p.D1078D|PDHA1_ENST00000540249.1_3'UTR|PDHA1_ENST00000379806.5_3'UTR			Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1246	Protein kinase.						ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GCCGCAACCAGTCTATAAGCT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	107	107			NA	NA	X		NA											NA				19379653		2203	4300	6503	SO:0001819	synonymous_variant			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815	389840	389840		Mitogen-activated protein kinase cascade / Kinase kinase kinases	31689	protein-coding gene	gene with protein product		300820			NA		Standard	NM_001001671	NM_001001671	NA	Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000359173.3:c.2043C>T	X.37:g.19379653G>A		NA	A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	37																																																																																				MAP3K15-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000286445.2		-	ENST00000359173.3	Silent	SNP	X : 19379653 - 19379653 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	787	92
PHLDB2	90102	broad.mit.edu	37	3	111603154	111603154	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111603154C>T	ENST00000431670.2	+	2	641	c.230C>T	c.(229-231)aCc>aTc	p.T77I	PHLDB2_ENST00000481953.1_Missense_Mutation_p.T77I|PHLDB2_ENST00000412622.1_Missense_Mutation_p.T77I|PHLDB2_ENST00000477695.1_Missense_Mutation_p.T77I|PHLDB2_ENST00000393923.3_Missense_Mutation_p.T104I|PHLDB2_ENST00000393925.3_Missense_Mutation_p.T77I|PHLDB2_ENST00000478922.1_Missense_Mutation_p.T77I	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	77						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CCTTTGGGAACCAGTGTCAGA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	160	156			NA	NA	3		NA											NA				111603154		2203	4300	6503	SO:0001583	missense				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824	90102	90102		Pleckstrin homology (PH) domain containing	29573	protein-coding gene	gene with protein product		610298			NA	12376540	Standard	NM_145753	NM_145753	NA	Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.230C>T	3.37:g.111603154C>T	ENSP00000405405:p.Thr77Ile	NA	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	37	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.261057	0.23051	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.34275	1.37;1.42;1.39;1.39;1.42;1.39	5.87	4.08	0.47627	.	0.919733	0.09484	N	0.795949	T	0.34366	0.0895	N	0.22421	0.69	0.09310	N	1	B;B;P;B;P	0.49090	0.09;0.053;0.919;0.145;0.493	B;B;P;B;B	0.48704	0.069;0.032;0.587;0.146;0.146	T	0.17228	-1.0376	10	0.72032	D	0.01	.	9.8179	0.40865	0.0:0.7857:0.1395:0.0748	.	77;77;77;77;104	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	I	104;104;77;77;77;77;77;77;77	ENSP00000377500:T104I;ENSP00000405405:T77I;ENSP00000405292:T77I;ENSP00000418296:T77I;ENSP00000377502:T77I;ENSP00000418319:T77I	ENSP00000352764:T104I	T	+	2	0	PHLDB2	113085844	0.030000	0.19436	0.378000	0.26068	0.462000	0.32619	1.447000	0.35101	0.932000	0.37266	0.655000	0.94253	ACC	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354337.1		+	ENST00000431670.2	Missense_Mutation	SNP	3 : 111603154 - 111603154 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	962	179
AMOT	154796	broad.mit.edu	37	X	112048243	112048243	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:112048243G>A	ENST00000304758.1	-	6	1276	c.481C>T	c.(481-483)Cga>Tga	p.R161*	AMOT_ENST00000371958.1_Nonsense_Mutation_p.R338*|AMOT_ENST00000371959.3_Nonsense_Mutation_p.R570*|AMOT_ENST00000524145.1_Nonsense_Mutation_p.R570*|AMOT_ENST00000371962.1_Nonsense_Mutation_p.R338*	NM_133265.2	NP_573572.1	Q4VCS5	AMOT_HUMAN	angiomotin	570					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TCGATGTGTCGTCTTTGGTCC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													282	234	250			NA	NA	X		NA											NA				112048243		2203	4300	6503	SO:0001587	stop_gained			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016	154796	154796			17810	protein-coding gene	gene with protein product		300410			NA	11257124, 16043488, 12406577	Standard	NM_133265	NM_001113490	NA	Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000304758.1:c.481C>T	X.37:g.112048243G>A	ENSP00000305557:p.Arg161*	NA	Q504X5|Q9HD27|Q9UPT1	37	CCDS14563.1	.	.	.	.	.	.	.	.	.	.	g	39	7.434134	0.98282	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	.	.	.	5.96	4.17	0.49024	.	0.054811	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5027	12.9983	0.58660	0.0:0.0:0.4395:0.5605	.	.	.	.	X	161;570;338;570;338	.	ENSP00000305557:R161X	R	-	1	2	AMOT	111934899	0.999000	0.42202	0.985000	0.45067	0.996000	0.88848	2.872000	0.48467	0.623000	0.30267	0.597000	0.82753	CGA	AMOT-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057950.1		-	ENST00000304758.1	Nonsense_Mutation	SNP	X : 112048243 - 112048243 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1090	282
SDCCAG8	10806	broad.mit.edu	37	1	243480090	243480090	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:243480090C>T	ENST00000366541.3	+	9	1081	c.963C>T	c.(961-963)tcC>tcT	p.S321S	SDCCAG8_ENST00000355875.4_Silent_p.S278S|SDCCAG8_ENST00000343783.6_Silent_p.S176S|SDCCAG8_ENST00000391846.1_Silent_p.S321S	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	321	Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		CACTAGTTTCCGTAAGGAGCA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	91	92			NA	NA	1		NA											NA				243480090		2203	4300	6503	SO:0001819	synonymous_variant			AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282	10806	10806			10671	protein-coding gene	gene with protein product		613524			NA	9610721, 20835237	Standard	NM_006642	NM_006642	NA	Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.963C>T	1.37:g.243480090C>T		NA	O60527|Q3ZCR6|Q8N5F2|Q9P0F1	37	CCDS31075.1																																																																																			SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096485.1		+	ENST00000366541.3	Silent	SNP	1 : 243480090 - 243480090 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	373	60
CYLD	1540	broad.mit.edu	37	16	50815323	50815323	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50815323G>T	ENST00000427738.3	+	9	1889		c.e9+1		CYLD_ENST00000398568.2_Splice_Site|CYLD_ENST00000569418.1_Splice_Site|CYLD_ENST00000568704.2_Intron|CYLD_ENST00000311559.9_Splice_Site|CYLD_ENST00000540145.1_Splice_Site|CYLD_ENST00000564326.1_Splice_Site|CYLD_ENST00000566206.1_Splice_Site			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	NA					cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AACTCTTTAGGTATTTGGATG	0.383		NA	Mis, N, F, S		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	familial cylindromatosis gene		E	0													107	98	101			NA	NA	16		NA											NA				50815323		1882	4115	5997	SO:0001630	splice_region_variant	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17					1540	1540			2584	protein-coding gene	gene with protein product	ubiquitin specific peptidase like 2	605018		CYLD1	NA	7493027	Standard		NM_015247	NA	Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.1684+1G>T	16.37:g.50815323G>T		NA	O94934|Q7L3N6|Q96EH0|Q9NZX9	37	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750995	0.89753	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYLD	49372824	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.414000	0.97362	2.836000	0.97738	0.655000	0.94253	.	CYLD-010	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000422998.2	Intron	+	ENST00000427738.3	Splice_Site	SNP	16 : 50815323 - 50815323 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	48
PCDHB6	56130	broad.mit.edu	37	5	140531016	140531016	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140531016C>A	ENST00000231136.1	+	1	1178	c.1178C>A	c.(1177-1179)cCt>cAt	p.P393H	PCDHB6_ENST00000543635.1_Missense_Mutation_p.P257H	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	393	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTACTAAGACCTTCCGTGGAG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	123	122			NA	NA	5		NA											NA				140531016		2203	4300	6503	SO:0001583	missense			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211	56130	56130		Cadherins / Protocadherins : Clustered	8691	other	protocadherin		606332			NA	10380929	Standard	NM_018939	NM_018939	NA	Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1178C>A	5.37:g.140531016C>A	ENSP00000231136:p.Pro393His	NA		37	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	C	8.842	0.942553	0.18281	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.01725	4.67;4.67	4.59	2.65	0.31530	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.12774	0.0310	H	0.95004	3.61	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.05666	-1.0871	9	0.87932	D	0	.	6.5296	0.22320	0.1459:0.6952:0.0:0.159	.	393	Q9Y5E3	PCDB6_HUMAN	H	257;393;178	ENSP00000438466:P257H;ENSP00000231136:P393H	ENSP00000231136:P393H	P	+	2	0	PCDHB6	140511200	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.152000	0.16302	1.053000	0.40415	-0.219000	0.12488	CCT	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251818.2		+	ENST00000231136.1	Missense_Mutation	SNP	5 : 140531016 - 140531016 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	912	170
BZRAP1	9256	broad.mit.edu	37	17	56389337	56389337	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56389337G>T	ENST00000268893.6	-	16	3504	c.2665C>A	c.(2665-2667)Ctc>Atc	p.L889I	BZRAP1_ENST00000355701.3_Missense_Mutation_p.L949I|BZRAP1_ENST00000343736.4_Missense_Mutation_p.L949I	NM_024418.2	NP_077729.1	O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	949	Fibronectin type-III 2.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGGGTGGGAGCTGAGCCTCC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	39	38			NA	NA	17		NA											NA				56389337		2203	4300	6503	SO:0001583	missense			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09				9256	9256			16831	protein-coding gene	gene with protein product		610764			NA	9734811, 9915832	Standard	NM_004758	NM_004758	NA	Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000268893.6:c.2665C>A	17.37:g.56389337G>T	ENSP00000268893:p.Leu889Ile	NA	O75111|Q8N5W3	37	CCDS45742.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165512	0.38217	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.04706	3.57;3.6;3.6	4.95	3.95	0.45737	Fibronectin, type III (2);	0.398397	0.21514	N	0.073340	T	0.04815	0.0130	L	0.33485	1.01	0.24983	N	0.991587	B;B;B	0.14805	0.001;0.011;0.003	B;B;B	0.17433	0.003;0.018;0.009	T	0.37337	-0.9710	10	0.16896	T	0.51	.	13.5894	0.61951	0.0:0.0:0.8384:0.1616	.	949;889;949	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	I	949;949;889	ENSP00000347929:L949I;ENSP00000345824:L949I;ENSP00000268893:L889I	ENSP00000268893:L889I	L	-	1	0	BZRAP1	53744336	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.478000	0.66806	1.167000	0.42706	0.455000	0.32223	CTC	BZRAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443978.1		-	ENST00000268893.6	Missense_Mutation	SNP	17 : 56389337 - 56389337 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	343	14
GPR182	11318	broad.mit.edu	37	12	57389159	57389159	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57389159C>A	ENST00000300098.1	+	2	385	c.166C>A	c.(166-168)Ctc>Atc	p.L56I		NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	56						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						GCGCGTGGTCCTCTTTGCCCT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													211	189	197			NA	NA	12		NA											NA				57389159		2203	4300	6503	SO:0001583	missense			Y13583	CCDS8927.1	12q13.3	2012-08-21	2007-09-24	2007-09-24		ENSG00000166856	11318	11318		GPCR / Class A : Orphans	13708	protein-coding gene	gene with protein product		605307	adrenomedullin receptor	ADMR	NA	9367907, 9535752	Standard	NM_007264	NM_007264	NA	Approved	hrhAMR, G10D, AM-R	uc001smk.3	O15218		ENST00000300098.1:c.166C>A	12.37:g.57389159C>A	ENSP00000300098:p.Leu56Ile	NA		37	CCDS8927.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759994	0.69763	.	.	ENSG00000166856	ENST00000300098	T	0.43294	0.95	4.5	4.5	0.54988	.	0.000000	0.64402	D	0.000001	T	0.40448	0.1117	L	0.34521	1.04	0.44201	D	0.997028	D	0.58620	0.983	P	0.53313	0.723	T	0.12192	-1.0557	10	0.41790	T	0.15	.	8.6249	0.33883	0.0:0.8967:0.0:0.1033	.	56	O15218	GP182_HUMAN	I	56	ENSP00000300098:L56I	ENSP00000300098:L56I	L	+	1	0	GPR182	55675426	1.000000	0.71417	0.897000	0.35233	0.901000	0.52897	3.782000	0.55401	2.504000	0.84457	0.561000	0.74099	CTC	GPR182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411212.1		+	ENST00000300098.1	Missense_Mutation	SNP	12 : 57389159 - 57389159 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	819	162
CYP3A7	1551	broad.mit.edu	37	7	99313450	99313450	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99313450C>A	ENST00000336374.2	-	7	603	c.601G>T	c.(601-603)Gac>Tac	p.D201Y		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	201					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					ACAAAGGGGTCTTGTGGATTG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													180	170	174			NA	NA	7		NA											NA				99313450		2203	4300	6503	SO:0001583	missense			AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870	1551	1551		Cytochrome P450s	2640	protein-coding gene	gene with protein product		605340	cytochrome P450, subfamily IIIA, polypeptide 7		NA	2722762	Standard		NM_000765	NA	Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.601G>T	7.37:g.99313450C>A	ENSP00000337450:p.Asp201Tyr	NA	A4D288	37	CCDS5673.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.739833	0.30865	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	T	0.69435	-0.4	4.22	2.38	0.29361	.	0.155454	0.64402	D	0.000015	D	0.84808	0.5554	H	0.96015	3.755	0.46113	D	0.998871	D	0.89917	1.0	D	0.87578	0.998	D	0.84182	0.0440	10	0.72032	D	0.01	.	8.3536	0.32316	0.0:0.7975:0.0:0.2025	.	201	P24462	CP3A7_HUMAN	Y	201	ENSP00000337450:D201Y	ENSP00000292414:D201Y	D	-	1	0	CYP3A7	99151386	0.976000	0.34144	0.007000	0.13788	0.002000	0.02628	2.482000	0.45224	0.335000	0.23614	-0.266000	0.10368	GAC	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345484.1		-	ENST00000336374.2	Missense_Mutation	SNP	7 : 99313450 - 99313450 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	787	178
ZNF217	7764	broad.mit.edu	37	20	52192856	52192856	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:52192856C>T	ENST00000371471.2	-	4	2872	c.2447G>A	c.(2446-2448)aGt>aAt	p.S816N	ZNF217_ENST00000302342.3_Missense_Mutation_p.S816N			O75362	ZN217_HUMAN	zinc finger protein 217	816					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CTTCAGGTTACTTGGGGCTAA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	66	65			NA	NA	20		NA											NA				52192856		2203	4300	6503	SO:0001583	missense			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940	7764	7764		Zinc fingers, C2H2-type	13009	protein-coding gene	gene with protein product		602967			NA	9671742	Standard	NM_006526	NM_006526	NA	Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.2447G>A	20.37:g.52192856C>T	ENSP00000360526:p.Ser816Asn	NA	E1P5Y6|Q14DB8	37	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092140	0.36952	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.09255	3.0;3.0	5.23	4.28	0.50868	.	0.607508	0.18458	N	0.140604	T	0.08626	0.0214	L	0.39397	1.21	0.39431	D	0.967082	B	0.19200	0.034	B	0.14023	0.01	T	0.16928	-1.0386	10	0.18276	T	0.48	-30.6571	8.4592	0.32917	0.0:0.8275:0.0:0.1725	.	816	O75362	ZN217_HUMAN	N	816	ENSP00000360526:S816N;ENSP00000304308:S816N	ENSP00000304308:S816N	S	-	2	0	ZNF217	51626263	0.987000	0.35691	0.894000	0.35097	0.946000	0.59487	2.037000	0.41174	2.439000	0.82584	0.555000	0.69702	AGT	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079757.2		-	ENST00000371471.2	Missense_Mutation	SNP	20 : 52192856 - 52192856 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	535	96
KIF20B	9585	broad.mit.edu	37	10	91497999	91497999	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91497999C>A	ENST00000371728.3	+	20	3466	c.3401C>A	c.(3400-3402)aCt>aAt	p.T1134N	KIF20B_ENST00000260753.4_Missense_Mutation_p.T1094N|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Missense_Mutation_p.T1134N|KIF20B_ENST00000416354.1_Missense_Mutation_p.T1164N	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1134					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AAAAATGTTACTCTTGATGTT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	76	73			NA	NA	10		NA											NA				91497999		2202	4297	6499	SO:0001583	missense			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182	9585	9585			7212	protein-coding gene	gene with protein product	cancer/testis antigen 90	605498	M-phase phosphoprotein 1	MPHOSPH1	NA	8885239, 8290587, 11470801	Standard	NM_016195	NM_016195	NA	Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.3401C>A	10.37:g.91497999C>A	ENSP00000360793:p.Thr1134Asn	NA	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	37		.	.	.	.	.	.	.	.	.	.	C	0.022	-1.417123	0.01136	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.65916	-0.12;-0.13;-0.18;-0.12	5.87	-1.76	0.08006	.	1.060770	0.07276	N	0.869932	T	0.22437	0.0541	N	0.00707	-1.245	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.11842	-1.0571	10	0.16420	T	0.52	0.8938	1.5837	0.02639	0.3529:0.2265:0.3063:0.1143	.	1134;1094	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	N	1094;1164;1134;1134	ENSP00000260753:T1094N;ENSP00000411545:T1164N;ENSP00000377830:T1134N;ENSP00000360793:T1134N	ENSP00000260753:T1094N	T	+	2	0	KIF20B	91487979	0.001000	0.12720	0.009000	0.14445	0.003000	0.03518	-0.241000	0.08940	-0.370000	0.08016	-0.940000	0.02684	ACT	KIF20B-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000049330.1		+	ENST00000371728.3	Missense_Mutation	SNP	10 : 91497999 - 91497999 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	481	52
CTNNB1	1499	broad.mit.edu	37	3	41275077	41275077	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41275077A>C	ENST00000349496.5	+	9	1523	c.1243A>C	c.(1243-1245)Aat>Cat	p.N415H	CTNNB1_ENST00000396183.3_Missense_Mutation_p.N415H|CTNNB1_ENST00000396185.3_Missense_Mutation_p.N415H|CTNNB1_ENST00000405570.1_Missense_Mutation_p.N415H|CTNNB1_ENST00000453024.1_Missense_Mutation_p.N408H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	415					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	AGATGATATAAATGTGGTCAC	0.428		15	H, Mis, T	PLAG1	colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma				Pilomatrixoma, Familial Clustering of					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(6;3 56 14213 18255)		Dom	yes		3	3p22-p21.3	1499	catenin (cadherin-associated protein), beta 1		E, M, O	0													161	156	157			NA	NA	3		NA											NA				41275077		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036	1499	1499		Armadillo repeat containing	2514	protein-coding gene	gene with protein product		116806	catenin (cadherin-associated protein), beta 1 (88kD)	CTNNB	NA	7829088	Standard	NM_001098210	NM_001098210	NA	Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1243A>C	3.37:g.41275077A>C	ENSP00000344456:p.Asn415His	NA	A8K1L7|Q8NEW9|Q8NI94|Q9H391	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.005703	0.54254	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	5.86	5.86	0.93980	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65386	0.2686	M	0.79011	2.435	0.80722	D	1	B;B;B	0.14012	0.004;0.009;0.009	B;B;B	0.12837	0.008;0.008;0.008	T	0.62459	-0.6850	10	0.41790	T	0.15	-0.0228	16.255	0.82510	1.0:0.0:0.0:0.0	.	343;408;415	B4DSW9;B4DGU4;P35222	.;.;CTNB1_HUMAN	H	415;415;415;408;415	ENSP00000385604:N415H;ENSP00000379486:N415H;ENSP00000344456:N415H;ENSP00000411226:N408H;ENSP00000379488:N415H	ENSP00000344456:N415H	N	+	1	0	CTNNB1	41250081	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.240000	0.73641	0.533000	0.62120	AAT	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254182.2		+	ENST00000349496.5	Missense_Mutation	SNP	3 : 41275077 - 41275077 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1147	182
USP45	85015	broad.mit.edu	37	6	99883713	99883713	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99883713G>A	ENST00000327681.6	-	18	2856	c.2324C>T	c.(2323-2325)gCg>gTg	p.A775V	USP45_ENST00000500704.2_Missense_Mutation_p.A775V|USP45_ENST00000539675.1_Missense_Mutation_p.A68V|USP45_ENST00000392738.2_Missense_Mutation_p.A455V|USP45_ENST00000369233.2_Missense_Mutation_p.A727V	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	775					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		ATTATCAGCCGCTTTCAAACC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	91	92	92		2324	4.5	0.9	6		92	1,8599	1.2+/-3.3	0,1,4299	no	missense	USP45	NM_001080481.1	64	0,3,6500	AA,AG,GG	NA	0.0116,0.0454,0.0231	benign	775/815	99883713	3,13003	2203	4300	6503	SO:0001583	missense			AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552	85015	85015		Ubiquitin-specific peptidases	20080	protein-coding gene	gene with protein product			ubiquitin specific protease 45		NA	12838346	Standard	NM_032929	NM_001080481	NA	Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.2324C>T	6.37:g.99883713G>A	ENSP00000333376:p.Ala775Val	NA	B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	37	CCDS34501.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.743813	0.30865	4.54E-4	1.16E-4	ENSG00000123552	ENST00000392738;ENST00000500704;ENST00000327681;ENST00000539675;ENST00000369233	T;T;T;T;T	0.43688	2.21;3.69;3.69;0.94;3.69	5.65	4.49	0.54785	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.109289	0.64402	D	0.000008	T	0.13243	0.0321	N	0.19112	0.55	0.80722	D	1	B;B	0.32939	0.275;0.391	B;B	0.32465	0.146;0.031	T	0.05784	-1.0864	10	0.52906	T	0.07	.	7.6188	0.28173	0.0:0.0704:0.1431:0.7865	.	775;455	Q70EL2;Q70EL2-3	UBP45_HUMAN;.	V	455;775;775;68;727	ENSP00000376495:A455V;ENSP00000424372:A775V;ENSP00000333376:A775V;ENSP00000439569:A68V;ENSP00000358236:A727V	ENSP00000333376:A775V	A	-	2	0	USP45	99990434	1.000000	0.71417	0.941000	0.38009	0.045000	0.14185	4.699000	0.61796	0.970000	0.38263	-0.264000	0.10439	GCG	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041609.2		-	ENST00000327681.6	Missense_Mutation	SNP	6 : 99883713 - 99883713 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	423	84
KIF14	9928	broad.mit.edu	37	1	200524583	200524583	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200524583C>T	ENST00000367350.4	-	28	4792		c.e28-1			NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	NA					microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						CTTTGGTAACCTATAGAGAAT	0.269		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	50	49			NA	NA	1		NA											NA				200524583		2198	4281	6479	SO:0001630	splice_region_variant			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193	9928	9928		Kinesins	19181	protein-coding gene	gene with protein product		611279			NA	7584044	Standard	NM_014875	NM_014875	NA	Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.4354-1G>A	1.37:g.200524583C>T		NA	Q14CI8|Q4G0A5|Q5T1W3	37	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222434	0.58668	.	.	ENSG00000118193	ENST00000367350	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5612	0.76249	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF14	198791206	0.998000	0.40836	0.347000	0.25668	0.799000	0.45148	4.317000	0.59184	2.682000	0.91365	0.655000	0.94253	.	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086878.1	Intron	-	ENST00000367350.4	Splice_Site	SNP	1 : 200524583 - 200524583 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	202	52
HIPK2	28996	broad.mit.edu	37	7	139285255	139285255	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139285255C>A	ENST00000406875.3	-	11	2437	c.2343G>T	c.(2341-2343)caG>caT	p.Q781H	HIPK2_ENST00000342645.6_Missense_Mutation_p.Q781H|HIPK2_ENST00000428878.2_Missense_Mutation_p.Q754H	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	781	Interaction with CTBP1 (By similarity).|Interaction with POU4F1 (By similarity).|Interaction with SKI and SMAD1.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					CATTTAAGGGCTGTGCTGCTG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	107	105			NA	NA	7		NA											NA				139285255		2143	4243	6386	SO:0001583	missense			AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393	28996	28996			14402	protein-coding gene	gene with protein product		606868	homeodomain-interacting protein kinase 2		NA	11120354	Standard	NM_022740	NM_001113239	NA	Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.2343G>T	7.37:g.139285255C>A	ENSP00000385571:p.Gln781His	NA	Q75MR7|Q8WWI4|Q9H2Y1	37		.	.	.	.	.	.	.	.	.	.	C	14.50	2.553352	0.45487	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.27720	1.65;1.65;1.65	4.84	0.716	0.18191	.	.	.	.	.	T	0.47469	0.1447	.	.	.	0.40005	D	0.975215	D;D	0.63046	0.992;0.988	D;D	0.74674	0.976;0.984	T	0.41752	-0.9491	8	0.49607	T	0.09	.	7.4575	0.27274	0.0:0.6539:0.1212:0.2249	.	781;754	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	H	781;754;781	ENSP00000385571:Q781H;ENSP00000413724:Q754H;ENSP00000343108:Q781H	ENSP00000343108:Q781H	Q	-	3	2	HIPK2	138935795	1.000000	0.71417	0.999000	0.59377	0.460000	0.32559	1.702000	0.37836	0.258000	0.21686	-0.157000	0.13467	CAG	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000349430.3		-	ENST00000406875.3	Missense_Mutation	SNP	7 : 139285255 - 139285255 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	310	50
PLEKHO2	80301	broad.mit.edu	37	15	65157620	65157620	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65157620C>T	ENST00000323544.4	+	6	1134	c.1006C>T	c.(1006-1008)Cca>Tca	p.P336S	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	336	Pro-rich.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						GCCACCTGCTCCAGGCACAGT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	58	57			NA	NA	15		NA											NA				65157620		2202	4299	6501	SO:0001583	missense			AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839	80301	80301		Pleckstrin homology (PH) domain containing	30026	protein-coding gene	gene with protein product			pleckstrin homology domain containing, family Q member 1	PLEKHQ1	NA	12477932	Standard	NM_025201	NM_025201	NA	Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.1006C>T	15.37:g.65157620C>T	ENSP00000326706:p.Pro336Ser	NA	Q7L4H4|Q8WYS8	37	CCDS10196.1	.	.	.	.	.	.	.	.	.	.	C	7.836	0.720908	0.15372	.	.	ENSG00000241839	ENST00000323544	T	0.33654	1.4	5.42	3.55	0.40652	.	0.419926	0.26796	N	0.022445	T	0.19248	0.0462	N	0.20986	0.625	0.09310	N	1	B;P	0.43094	0.06;0.799	B;B	0.36845	0.032;0.234	T	0.09907	-1.0653	10	0.17369	T	0.5	.	8.1887	0.31354	0.0:0.8176:0.0:0.1824	.	286;336	Q8TD55-2;Q8TD55	.;PKHO2_HUMAN	S	336	ENSP00000326706:P336S	ENSP00000326706:P336S	P	+	1	0	PLEKHO2	62944673	0.004000	0.15560	0.010000	0.14722	0.008000	0.06430	1.931000	0.40134	0.662000	0.31006	0.655000	0.94253	CCA	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256659.1		+	ENST00000323544.4	Missense_Mutation	SNP	15 : 65157620 - 65157620 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	59
SLC52A2	79581	broad.mit.edu	37	8	145583404	145583404	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145583404G>A	ENST00000526752.1	+	1	241				SLC52A2_ENST00000527078.1_Silent_p.V84V|SLC52A2_ENST00000532887.1_Silent_p.V84V|SLC52A2_ENST00000526891.1_3'UTR|SLC52A2_ENST00000540505.1_5'UTR|SLC52A2_ENST00000329994.2_Silent_p.V84V|SLC52A2_ENST00000530047.1_Silent_p.V84V|SLC52A2_ENST00000402965.1_Silent_p.V84V			Q9HAB3	RFT3_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	NA						integral to plasma membrane	receptor activity|riboflavin transporter activity				NA						TCCGGGTGGTGCAGGTGCTGG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	102	103			NA	NA	8		NA											NA				145583404		2203	4300	6503	SO:0001627	intron_variant			AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803	79581	79581		Solute carriers	30224	protein-coding gene	gene with protein product		607882	G protein-coupled receptor 172A	GPR172A	NA	12740431	Standard	NM_024531	NM_024531	NA	Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000526752.1:c.130+321G>A	8.37:g.145583404G>A		NA	A8K6B6|D3DWL8|Q86UT1	37																																																																																				SLC52A2-012	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000382410.1		+	ENST00000526752.1	Intron	SNP	8 : 145583404 - 145583404 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	521	106
CATSPER1	117144	broad.mit.edu	37	11	65793057	65793057	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65793057C>T	ENST00000312106.5	-	1	931	c.794G>A	c.(793-795)aGc>aAc	p.S265N		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	265	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						gtggtactcgctgtgatagtC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	133	141			NA	NA	11		NA											NA				65793057		2201	4296	6497	SO:0001583	missense			AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294	117144	117144		Voltage-gated ion channels / Cation channels, sperm associated	17116	protein-coding gene	gene with protein product		606389			NA	11675491, 11595941, 16382101	Standard	NM_053054	NM_053054	NA	Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.794G>A	11.37:g.65793057C>T	ENSP00000309052:p.Ser265Asn	NA	Q96P76	37	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	C	8.745	0.919916	0.17982	.	.	ENSG00000175294	ENST00000312106	D	0.96716	-4.1	3.21	-3.69	0.04450	.	.	.	.	.	D	0.90738	0.7093	L	0.47716	1.5	0.09310	N	1	B	0.29432	0.244	B	0.17098	0.017	T	0.80834	-0.1205	9	0.59425	D	0.04	.	1.6208	0.02713	0.134:0.3752:0.1319:0.3588	.	265	Q8NEC5	CTSR1_HUMAN	N	265	ENSP00000309052:S265N	ENSP00000309052:S265N	S	-	2	0	CATSPER1	65549633	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.870000	0.01641	-0.918000	0.03808	0.460000	0.39030	AGC	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391055.1		-	ENST00000312106.5	Missense_Mutation	SNP	11 : 65793057 - 65793057 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	93	14
RBM22	55696	broad.mit.edu	37	5	150071373	150071373	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150071373G>A	ENST00000199814.4	-	11	1324	c.1203C>T	c.(1201-1203)caC>caT	p.H401H	RBM22_ENST00000540000.1_Silent_p.H352H|RBM22_ENST00000447771.2_Silent_p.H352H	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	401	Pro-rich.				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGAAGGATAGTGGATTGGTC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	109	111			NA	NA	5		NA											NA				150071373		2203	4300	6503	SO:0001819	synonymous_variant			AL136933	CCDS34278.1	5q33.1	2013-02-12			ENSG00000086589	ENSG00000086589	55696	55696		Zinc fingers, CCCH-type domain containing, RNA binding motif (RRM) containing	25503	protein-coding gene	gene with protein product	functional spliceosome-associated protein 47	612430			NA	20013661, 19133299	Standard	NM_018047	NM_018047	NA	Approved	FLJ10290, ZC3H16, fSAP47, Cwc2	uc031slu.1	Q9NW64	OTTHUMG00000163589	ENST00000199814.4:c.1203C>T	5.37:g.150071373G>A		NA	A6NDM5|B4DLI9|O95607	37	CCDS34278.1																																																																																			RBM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374431.2		-	ENST00000199814.4	Silent	SNP	5 : 150071373 - 150071373 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	500	86
SEPT4	5414	broad.mit.edu	37	17	56598178	56598178	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56598178C>T	ENST00000457347.2	-	12	1492	c.1348G>A	c.(1348-1350)Gac>Aac	p.D450N	SEPT4_ENST00000317268.3_Missense_Mutation_p.D435N|SEPT4_ENST00000412945.3_Missense_Mutation_p.D427N|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000583114.1_Missense_Mutation_p.D288N|SEPT4_ENST00000580844.1_Missense_Mutation_p.D336N|SEPT4_ENST00000579371.1_Intron|SEPT4_ENST00000393086.1_Missense_Mutation_p.D416N|SEPT4_ENST00000317256.6_Missense_Mutation_p.D416N|SEPT4_ENST00000426861.1_3'UTR	NM_001256782.1	NP_001243711.1	O43236	SEPT4_HUMAN	septin 4	435					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATGGGGAAGTCGGTACCACTT	0.537		NA									OREG0024614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ASN/ASP,ASN/ASP,,ASN/ASP	0,4406		0,0,2203	151	148	149		1279,1303,,1246	5.6	1	17		149	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,utr-3,missense	SEPT4	NM_001198713.1,NM_004574.3,NM_080415.2,NM_080416.2	23,23,,23	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging,,probably-damaging	427/471,435/479,,416/460	56598178	1,13005	2203	4300	6503	SO:0001583	missense			AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387	5414	5414		Septins	9165	protein-coding gene	gene with protein product	bradeoin, septin-M	603696	peanut-like 2 (Drosophila)	PNUTL2	NA	9889007	Standard	NM_080417	NM_001198713	NA	Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000457347.2:c.1348G>A	17.37:g.56598178C>T	ENSP00000402000:p.Asp450Asn	1016	B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	37	CCDS58582.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532635	0.45073	0.0	1.16E-4	ENSG00000108387	ENST00000412945;ENST00000457347;ENST00000317256;ENST00000317268;ENST00000393086	T;T;T;T	0.53206	0.63;0.64;0.63;0.64	5.62	5.62	0.85841	.	0.293457	0.38837	N	0.001547	T	0.61198	0.2328	L	0.40543	1.245	0.80722	D	1	D;D;D;P;D	0.89917	1.0;1.0;1.0;0.928;1.0	D;D;D;B;D	0.83275	0.969;0.996;0.969;0.373;0.932	T	0.56414	-0.7983	10	0.39692	T	0.17	.	17.5005	0.87730	0.0:1.0:0.0:0.0	.	427;450;416;288;435	O43236-3;O43236-4;O43236-2;O43236-5;O43236	.;.;.;.;SEPT4_HUMAN	N	427;449;416;435;416	ENSP00000414779:D427N;ENSP00000321071:D416N;ENSP00000321674:D435N;ENSP00000376801:D416N	ENSP00000321071:D416N	D	-	1	0	SEPT4	53953177	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.717000	0.84732	2.795000	0.96236	0.655000	0.94253	GAC	SEPT4-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445422.1		-	ENST00000457347.2	Missense_Mutation	SNP	17 : 56598178 - 56598178 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	777	30
ZNF267	10308	broad.mit.edu	37	16	31927755	31927755	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31927755T>C	ENST00000300870.10	+	4	2394	c.2185T>C	c.(2185-2187)Tca>Cca	p.S729P		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	729					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						TAACTCTAGGTCATACCTCAT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	71	70			NA	NA	16		NA											NA				31927755		2197	4300	6497	SO:0001583	missense			X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947	10308	10308		Zinc fingers, C2H2-type, -	13060	protein-coding gene	gene with protein product		604752			NA	7865130	Standard	NM_003414	NM_003414	NA	Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.2185T>C	16.37:g.31927755T>C	ENSP00000300870:p.Ser729Pro	NA	A0JNZ9|Q8NE41|Q9NRJ0	37	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	10.84	1.463235	0.26248	.	.	ENSG00000185947	ENST00000300870	T	0.32988	1.43	0.468	0.468	0.16732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28962	0.0719	M	0.76002	2.32	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.40079	-0.9582	9	0.72032	D	0.01	.	2.6393	0.04966	0.0:0.3837:0.0:0.6163	.	729	Q14586	ZN267_HUMAN	P	729	ENSP00000300870:S729P	ENSP00000300870:S729P	S	+	1	0	ZNF267	31835256	0.000000	0.05858	0.215000	0.23724	0.201000	0.24016	-0.131000	0.10482	0.413000	0.25759	0.402000	0.26972	TCA	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432446.2		+	ENST00000300870.10	Missense_Mutation	SNP	16 : 31927755 - 31927755 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	318	40
SGK3	23678	broad.mit.edu	37	8	67771751	67771751	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67771751T>G	ENST00000396596.1	+	17	1640	c.1426T>G	c.(1426-1428)Ttg>Gtg	p.L476V	SGK3_ENST00000521198.2_Missense_Mutation_p.L476V|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.L476V|SGK3_ENST00000522398.1_Missense_Mutation_p.L476V|SGK3_ENST00000520976.1_Missense_Mutation_p.L444V|SGK3_ENST00000345714.4_Missense_Mutation_p.L476V	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	476	AGC-kinase C-terminal.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TGCCAGTGTATTGGAGGCAGA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													265	223	237			NA	NA	8		NA											NA				67771751		2203	4300	6503	SO:0001583	missense				CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205	23678	23678			10812	protein-coding gene	gene with protein product		607591	serum/glucocorticoid regulated kinase-like	SGK2, SGKL	NA	10585774, 10548550	Standard		NM_013257	NA	Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.1426T>G	8.37:g.67771751T>G	ENSP00000379842:p.Leu476Val	NA	A8K5W3|Q9P1Q7|Q9UKG5	37	CCDS6195.1	.	.	.	.	.	.	.	.	.	.	T	9.869	1.198526	0.22037	.	.	ENSG00000104205	ENST00000519289;ENST00000521198;ENST00000262211;ENST00000522398;ENST00000520976;ENST00000396596;ENST00000345714	T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41	5.41	-0.871	0.10642	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.112392	0.64402	D	0.000012	T	0.34890	0.0913	L	0.45470	1.425	0.32286	N	0.566956	B;B	0.11235	0.004;0.002	B;B	0.18561	0.022;0.017	T	0.08994	-1.0695	9	0.29301	T	0.29	.	1.8129	0.03094	0.228:0.4477:0.1051:0.2193	.	444;476	Q96BR1-2;Q96BR1	.;SGK3_HUMAN	V	476;476;476;476;444;476;476	ENSP00000429022:L476V;ENSP00000430463:L476V;ENSP00000430256:L476V;ENSP00000430691:L444V;ENSP00000379842:L476V;ENSP00000331816:L476V	ENSP00000262211:L476V	L	+	1	2	SGK3	67934305	0.736000	0.28164	0.297000	0.24988	0.994000	0.84299	1.425000	0.34859	-0.067000	0.12976	0.528000	0.53228	TTG	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379232.3		+	ENST00000396596.1	Missense_Mutation	SNP	8 : 67771751 - 67771751 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	487	90
ZNF668	79759	broad.mit.edu	37	16	31072558	31072558	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31072558C>T	ENST00000538906.1	-	3	2475	c.1691G>A	c.(1690-1692)cGc>cAc	p.R564H	ZNF668_ENST00000394983.2_Missense_Mutation_p.R564H|ZNF668_ENST00000300849.4_Missense_Mutation_p.R564H|ZNF668_ENST00000539836.3_Missense_Mutation_p.R587H|ZNF668_ENST00000426488.2_Missense_Mutation_p.R587H|ZNF668_ENST00000535577.1_Missense_Mutation_p.R564H	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	564					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCTGTGAGTGCGGCTGTGTTT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(181;1111 1980 5060 10512 25785)							NA				0													58	55	56			NA	NA	16		NA											NA				31072558		2197	4300	6497	SO:0001583	missense				CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394	79759	79759		Zinc fingers, C2H2-type	25821	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024706	NM_024706	NA	Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1691G>A	16.37:g.31072558C>T	ENSP00000440149:p.Arg564His	NA	Q59EV1|Q8N669|Q9H8L4	37	CCDS10701.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.860853	0.71834	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78	4.79	4.79	0.61399	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.131819	0.47455	D	0.000224	T	0.52158	0.1717	M	0.78049	2.395	0.42855	D	0.994091	D	0.89917	1.0	D	0.68353	0.957	T	0.58736	-0.7584	10	0.87932	D	0	-39.4971	16.7615	0.85513	0.0:1.0:0.0:0.0	.	564	Q96K58	ZN668_HUMAN	H	587;564;564;564;564	ENSP00000442573:R587H;ENSP00000441349:R564H;ENSP00000440149:R564H;ENSP00000378434:R564H;ENSP00000300849:R564H	ENSP00000300849:R564H	R	-	2	0	ZNF668	30980059	0.447000	0.25673	1.000000	0.80357	0.932000	0.56968	0.773000	0.26661	2.500000	0.84329	0.561000	0.74099	CGC	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000108516.2		-	ENST00000538906.1	Missense_Mutation	SNP	16 : 31072558 - 31072558 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	635	28
NAIF1	203245	broad.mit.edu	37	9	130829260	130829260	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130829260G>T	ENST00000373078.4	-	1	340	c.121C>A	c.(121-123)Ctg>Atg	p.L41M		NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	41	Required for nuclear localization and apoptosis-inducing activity.				apoptosis|induction of apoptosis	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTGGCGGCCAGGGGTACCCCG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	80	78			NA	NA	9		NA											NA				130829260		2202	4300	6502	SO:0001583	missense			AK122729	CCDS6889.1	9q34.11	2008-04-10	2008-04-10	2008-04-10	ENSG00000171169	ENSG00000171169	203245	203245			25446	protein-coding gene	gene with protein product	nuclear apoptosis-inducing factor 1	610673	chromosome 9 open reading frame 90	C9orf90	NA	14702039, 16378748	Standard	NM_197956	NM_197956	NA	Approved	DKFZp762G199, bA379C10.2	uc004bta.3	Q69YI7	OTTHUMG00000020727	ENST00000373078.4:c.121C>A	9.37:g.130829260G>T	ENSP00000362170:p.Leu41Met	NA	B3KV81|Q8WU12	37	CCDS6889.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292874	0.60086	.	.	ENSG00000171169	ENST00000373078	.	.	.	5.21	4.32	0.51571	.	0.070506	0.64402	D	0.000020	T	0.52386	0.1731	N	0.22421	0.69	0.42160	D	0.991592	D	0.65815	0.995	D	0.63192	0.912	T	0.50915	-0.8771	9	0.37606	T	0.19	-6.7284	9.237	0.37473	0.1641:0.0:0.8359:0.0	.	41	Q69YI7	NAIF1_HUMAN	M	41	.	ENSP00000362170:L41M	L	-	1	2	NAIF1	129869081	1.000000	0.71417	0.990000	0.47175	0.928000	0.56348	5.213000	0.65230	1.207000	0.43291	-0.253000	0.11424	CTG	NAIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054330.1		-	ENST00000373078.4	Missense_Mutation	SNP	9 : 130829260 - 130829260 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	932	41
EP400	57634	broad.mit.edu	37	12	132561978	132561978	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132561978G>A	ENST00000333577.4	+	54	9349	c.9240G>A	c.(9238-9240)gcG>gcA	p.A3080A	EP400_ENST00000389561.2_Silent_p.A3044A|EP400_ENST00000389562.2_Silent_p.A3043A|EP400_ENST00000330386.6_Silent_p.A2963A|EP400_ENST00000332482.4_Silent_p.A3007A			Q96L91	EP400_HUMAN	E1A binding protein p400	3080					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCACGCAGGCGACGGCGGCCG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	46	44			NA	NA	12		NA											NA				132561978		2187	4272	6459	SO:0001819	synonymous_variant			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495	57634	57634			11958	protein-coding gene	gene with protein product		606265	trinucleotide repeat containing 12	TNRC12	NA	9225980, 11509179	Standard	NM_015409	NM_015409	NA	Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.9240G>A	12.37:g.132561978G>A		NA	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	37																																																																																				EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding			+	ENST00000333577.4	Silent	SNP	12 : 132561978 - 132561978 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	468	18
GSS	2937	broad.mit.edu	37	20	33523406	33523406	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33523406G>T	ENST00000216951.2	-	9	905	c.807C>A	c.(805-807)ggC>ggA	p.G269G	GSS_ENST00000541098.1_Silent_p.G141G|GSS_ENST00000451957.2_Silent_p.G158G	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	269	Substrate binding.				nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	GAGGCATGTAGCCATCCCGGA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	89	95			NA	NA	20		NA											NA				33523406		2203	4300	6503	SO:0001819	synonymous_variant				CCDS13245.1	20q11.2	1996-06-18			ENSG00000100983	ENSG00000100983	2937	2937	6.3.2.3		4624	protein-coding gene	gene with protein product		601002			NA	8825653	Standard		NM_000178	NA	Approved		uc002xbg.3	P48637	OTTHUMG00000032315	ENST00000216951.2:c.807C>A	20.37:g.33523406G>T		NA	B2R697|E1P5P9|Q4TTD9	37	CCDS13245.1																																																																																			GSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078821.2		-	ENST00000216951.2	Silent	SNP	20 : 33523406 - 33523406 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	288	58
MSH2	4436	broad.mit.edu	37	2	47693796	47693796	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:47693796G>T	ENST00000406134.1	+	10	1572		c.e10-1		MSH2_ENST00000233146.2_Splice_Site|MSH2_ENST00000543555.1_Splice_Site			P43246	MSH2_HUMAN	mutS homolog 2	NA					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGATTATCAAGGCTTGGACCC	0.308		NA	D, Mis, N, F, S		colorectal, endometrial, ovarian	colorectal, endometrial, ovarian		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	mutS homolog 2 (E. coli)		E	4	Whole gene deletion(2)|Unknown(2)	haematopoietic_and_lymphoid_tissue(3)|prostate(1)											79	84	82			NA	NA	2		NA											NA				47693796		2203	4300	6503	SO:0001630	splice_region_variant	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002	4436	4436			7325	protein-coding gene	gene with protein product		609309	mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1), mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	COCA1	NA	8484120, 9843200	Standard		NM_000251	NA	Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000406134.1:c.1511-1G>T	2.37:g.47693796G>T		NA	O75488	37		.	.	.	.	.	.	.	.	.	.	G	20.4	3.982568	0.74474	.	.	ENSG00000095002	ENST00000233146;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000432737;ENST00000413880	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MSH2	47547300	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	8.947000	0.93000	2.873000	0.98535	0.563000	0.77884	.	MSH2-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000323353.3	Intron	+	ENST00000406134.1	Splice_Site	SNP	2 : 47693796 - 47693796 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	510	70
TENM1	10178	broad.mit.edu	37	X	123526164	123526164	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:123526164T>C	ENST00000371130.3	-	27	5468	c.5405A>G	c.(5404-5406)gAt>gGt	p.D1802G	TENM1_ENST00000422452.2_Missense_Mutation_p.D1809G|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2			teneurin transmembrane protein 1	NA											NA						GGTTATATGATCAAAATCTAT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	121	124			NA	NA	X		NA											NA				123526164		2203	4299	6502	SO:0001583	missense			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694	10178	10178			8117	protein-coding gene	gene with protein product		300588	tenascin M, odz, odd Oz/ten-m homolog 1 (Drosophila)	ODZ3, TNM, ODZ1	NA	10331952, 10341219	Standard	NM_014253	NM_001163278	NA	Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.5405A>G	X.37:g.123526164T>C	ENSP00000360171:p.Asp1802Gly	NA		37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.033170	0.75504	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.90788	-2.73;-2.69	5.54	5.54	0.83059	.	0.099413	0.64402	D	0.000001	D	0.91540	0.7328	M	0.79123	2.44	0.58432	D	0.999998	P;P;D	0.54964	0.953;0.953;0.969	B;B;P	0.45343	0.265;0.294;0.477	D	0.92533	0.6035	10	0.87932	D	0	.	14.7475	0.69499	0.0:0.0:0.0:1.0	.	1808;1809;1802	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	G	1802;1809	ENSP00000360171:D1802G;ENSP00000403954:D1809G	ENSP00000360171:D1802G	D	-	2	0	ODZ1	123353845	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.258000	0.72487	1.863000	0.54032	0.486000	0.48141	GAT	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058985.1		-	ENST00000371130.3	Missense_Mutation	SNP	X : 123526164 - 123526164 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	445	141
FASTKD3	79072	broad.mit.edu	37	5	7868079	7868079	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7868079G>A	ENST00000264669.5	-	2	254	c.118C>T	c.(118-120)Cgt>Tgt	p.R40C	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	40					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGGCACAGACGCTCCTTGACT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	102	99			NA	NA	5		NA											NA				7868079		2203	4300	6503	SO:0001583	missense			AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279	79072	79072			28758	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024091	NM_024091	NA	Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.118C>T	5.37:g.7868079G>A	ENSP00000264669:p.Arg40Cys	NA	Q9BVD3	37	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	G	9.046	0.990783	0.18966	.	.	ENSG00000124279	ENST00000264669;ENST00000504695;ENST00000507572	T;T;T	0.24908	1.83;1.83;1.83	4.79	-0.638	0.11500	.	2.565830	0.01078	N	0.004921	T	0.18718	0.0449	L	0.29908	0.895	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.18935	-1.0321	10	0.42905	T	0.14	-0.6029	3.6307	0.08130	0.3878:0.0:0.432:0.1802	.	40	Q14CZ7	FAKD3_HUMAN	C	40;40;23	ENSP00000264669:R40C;ENSP00000426008:R40C;ENSP00000422443:R23C	ENSP00000264669:R40C	R	-	1	0	FASTKD3	7921079	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.420000	0.21263	-0.001000	0.14495	-0.137000	0.14449	CGT	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253673.1		-	ENST00000264669.5	Missense_Mutation	SNP	5 : 7868079 - 7868079 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	476	43
TRPC5	7224	broad.mit.edu	37	X	111090508	111090508	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:111090508G>A	ENST00000262839.2	-	6	2452	c.1534C>T	c.(1534-1536)Cgc>Tgc	p.R512C		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	512					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGCAGCATGCGTCCCAAAGAG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	138	143			NA	NA	X		NA											NA				111090508		2203	4300	6503	SO:0001583	missense			AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315	7224	7224		Voltage-gated ion channels / Transient receptor potential cation channels	12337	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 159	300334			NA	10493832, 16382100	Standard	NM_012471	NM_012471	NA	Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1534C>T	X.37:g.111090508G>A	ENSP00000262839:p.Arg512Cys	NA	B2RP53|O75233|Q5JXY8|Q9Y514	37	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429090	0.62844	.	.	ENSG00000072315	ENST00000262839	D	0.98747	-5.11	5.38	5.38	0.77491	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98902	0.9628	M	0.74389	2.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.988;0.996	D	0.99537	1.0962	10	0.62326	D	0.03	-12.7276	13.2903	0.60267	0.0:0.0:0.8419:0.1581	.	513;512	Q59G51;Q9UL62	.;TRPC5_HUMAN	C	512	ENSP00000262839:R512C	ENSP00000262839:R512C	R	-	1	0	TRPC5	110977164	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.799000	0.55529	2.261000	0.74972	0.436000	0.28706	CGC	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057945.1		-	ENST00000262839.2	Missense_Mutation	SNP	X : 111090508 - 111090508 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	417	116
IQSEC1	9922	broad.mit.edu	37	3	12978092	12978092	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12978092G>A	ENST00000273221.4	-	3	682	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	IQSEC1_ENST00000473088.1_5'UTR	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	156	IQ.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTGCGCAAGCGCTCGAAGTTC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	32	34			NA	NA	3		NA											NA				12978092		2203	4300	6503	SO:0001583	missense			BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711	9922	9922			29112	protein-coding gene	gene with protein product	brefeldin A-resistant ARF-GEF2	610166			NA	9872452, 8619474	Standard	NM_014869	NM_001134382	NA	Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.466C>T	3.37:g.12978092G>A	ENSP00000273221:p.Arg156Cys	NA	O94863|Q96D85	37	CCDS33703.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.094182|4.094182	0.76870|0.76870	.|.	.|.	ENSG00000144711|ENSG00000144711	ENST00000450726|ENST00000273221;ENST00000435445;ENST00000429247	.|T;T	.|0.63417	.|-0.04;-0.04	4.58|4.58	4.58|4.58	0.56647|0.56647	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80497|0.80497	0.4634|0.4634	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.998;0.997;0.998	D|D	0.83975|0.83975	0.0329|0.0329	4|9	.|0.87932	.|D	.|0	.|.	17.558|17.558	0.87898|0.87898	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|142;142;156	.|E9PG60;C9JMG9;Q6DN90	.|.;.;IQEC1_HUMAN	V|C	156|156;142;142	.|ENSP00000273221:R156C;ENSP00000402299:R142C	.|ENSP00000273221:R156C	A|R	-|-	2|1	0|0	IQSEC1|IQSEC1	12953092|12953092	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	6.317000|6.317000	0.72862|0.72862	2.366000|2.366000	0.80165|0.80165	0.462000|0.462000	0.41574|0.41574	GCG|CGC	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339865.2		-	ENST00000273221.4	Missense_Mutation	SNP	3 : 12978092 - 12978092 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	171	28
ESCO1	114799	broad.mit.edu	37	18	19144199	19144199	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:19144199C>A	ENST00000269214.5	-	7	2723	c.1786G>T	c.(1786-1788)Gaa>Taa	p.E596*		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	596					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TTCTCTGCTTCTTTTAGTTTC	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	103	105			NA	NA	18		NA											NA				19144199		2203	4299	6502	SO:0001587	stop_gained			AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446	114799	114799			24645	protein-coding gene	gene with protein product		609674	establishment of cohesion 1 homolog 1 (S. cerevisiae)		NA	11572484, 14576321, 15958495	Standard	NM_052911	NM_052911	NA	Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.1786G>T	18.37:g.19144199C>A	ENSP00000269214:p.Glu596*	NA	B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	37	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	C	47	13.135262	0.99722	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	.	.	.	4.92	4.92	0.64577	.	0.348404	0.30193	N	0.010188	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-6.8435	17.4868	0.87691	0.0:1.0:0.0:0.0	.	.	.	.	X	596	.	ENSP00000269214:E596X	E	-	1	0	ESCO1	17398197	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.708000	0.61859	2.456000	0.83038	0.655000	0.94253	GAA	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443942.1		-	ENST00000269214.5	Nonsense_Mutation	SNP	18 : 19144199 - 19144199 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	94	17
ABCA5	23461	broad.mit.edu	37	17	67273834	67273834	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67273834C>A	ENST00000392676.3	-	19	2606	c.2542G>T	c.(2542-2544)Gca>Tca	p.A848S	ABCA5_ENST00000392677.2_Missense_Mutation_p.A848S|ABCA5_ENST00000588877.1_Missense_Mutation_p.A848S			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	848					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TGAAACTTTGCTATTGTATAC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	74	77			NA	NA	17		NA											NA				67273834		2202	4298	6500	SO:0001583	missense			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265	23461	23461		ATP binding cassette transporters / subfamily A	35	protein-coding gene	gene with protein product		612503			NA	8894702	Standard	NM_018672	NM_172232	NA	Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.2542G>T	17.37:g.67273834C>A	ENSP00000376443:p.Ala848Ser	NA	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	37	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316960	0.81469	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.88046	-2.32;-2.33	5.73	4.74	0.60224	.	0.085848	0.49916	D	0.000123	D	0.88411	0.6429	M	0.84948	2.725	0.50632	D	0.99988	P;B	0.36162	0.54;0.405	B;B	0.37346	0.247;0.125	D	0.87949	0.2722	9	.	.	.	.	14.6363	0.68692	0.0:0.9248:0.0:0.0752	.	848;848	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	S	848	ENSP00000376444:A848S;ENSP00000376443:A848S	.	A	-	1	0	ABCA5	64785429	1.000000	0.71417	0.936000	0.37596	0.999000	0.98932	3.880000	0.56145	2.861000	0.98227	0.655000	0.94253	GCA	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450654.1		-	ENST00000392676.3	Missense_Mutation	SNP	17 : 67273834 - 67273834 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	262	42
MYO9A	4649	broad.mit.edu	37	15	72119059	72119059	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72119059C>A	ENST00000564571.1	-	0	7664				MYO9A_ENST00000424560.1_Missense_Mutation_p.K2574N|MYO9A_ENST00000356056.5_Missense_Mutation_p.K2503N|MYO9A_ENST00000444904.1_Missense_Mutation_p.K2484N			B2RTY4	MYO9A_HUMAN	myosin IXA	NA					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTTTCACATTCTTTAATTTTT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	157	156			NA	NA	15		NA											NA				72119059		2199	4297	6496	SO:0001624	3_prime_UTR_variant			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933	4649	4649		Myosins / Myosin superfamily : Class IX	7608	protein-coding gene	gene with protein product		604875			NA	10409426	Standard	NM_006901	NM_006901	NA	Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000564571.1:c.*314G>T	15.37:g.72119059C>A		NA	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	37		.	.	.	.	.	.	.	.	.	.	C	17.00	3.276009	0.59649	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.87571	-2.27;-2.27;-2.26	5.2	4.28	0.50868	.	.	.	.	.	D	0.86264	0.5891	L	0.32530	0.975	0.40054	D	0.975819	D;D	0.63046	0.986;0.992	P;P	0.55923	0.738;0.787	D	0.86612	0.1873	9	0.62326	D	0.03	.	10.2152	0.43164	0.0:0.8455:0.0:0.1544	.	2503;2267	B2RTY4;B2RTY4-5	MYO9A_HUMAN;.	N	2503;2574;2484	ENSP00000348349:K2503N;ENSP00000399162:K2574N;ENSP00000398250:K2484N	ENSP00000348349:K2503N	K	-	3	2	MYO9A	69906113	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.348000	0.33987	1.164000	0.42652	0.563000	0.77884	AAG	MYO9A-015	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000420905.1		-	ENST00000564571.1	3'UTR	SNP	15 : 72119059 - 72119059 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	788	145
AMPH	273	broad.mit.edu	37	7	38475924	38475924	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:38475924G>A	ENST00000356264.2	-	12	1297	c.1082C>T	c.(1081-1083)cCc>cTc	p.P361L	AMPH_ENST00000325590.5_Missense_Mutation_p.P361L|AMPH_ENST00000428293.2_Missense_Mutation_p.P361L	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	361					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TGTCACCTCGGGCTTGAAAGG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	76	79			NA	NA	7		NA											NA				38475924		2203	4300	6503	SO:0001583	missense				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053	273	273			471	protein-coding gene	gene with protein product		600418	amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen), amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)		NA	8245793	Standard	NM_001635	NM_139316	NA	Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1082C>T	7.37:g.38475924G>A	ENSP00000348602:p.Pro361Leu	NA	A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	37	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924949	0.73213	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242;ENST00000544070	T;T;T	0.72051	-0.62;-0.62;-0.62	5.54	4.65	0.58169	.	0.185220	0.47852	D	0.000205	D	0.82453	0.5040	M	0.70275	2.135	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.903	D;D;B	0.91635	0.999;0.999;0.351	D	0.83511	0.0080	10	0.56958	D	0.05	-7.7829	14.7794	0.69754	0.0705:0.0:0.9295:0.0	.	361;361;117	P49418-2;P49418;Q8NFL4	.;AMPH_HUMAN;.	L	361;361;361;131;364	ENSP00000317441:P361L;ENSP00000348602:P361L;ENSP00000390734:P361L	ENSP00000317441:P361L	P	-	2	0	AMPH	38442449	1.000000	0.71417	0.961000	0.40146	0.733000	0.41908	5.157000	0.64911	2.609000	0.88269	0.655000	0.94253	CCC	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226953.2		-	ENST00000356264.2	Missense_Mutation	SNP	7 : 38475924 - 38475924 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	232	41
C17orf75	64149	broad.mit.edu	37	17	30666953	30666953	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30666953A>G	ENST00000577809.1	-	3	275	c.226T>C	c.(226-228)Tcc>Ccc	p.S76P	RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Missense_Mutation_p.S76P	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	76					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TCTGCCAAGGAGAGGCTTGAC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	71	72			NA	NA	17		NA											NA				30666953		1929	4153	6082	SO:0001583	missense			AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666	64149	64149			30173	protein-coding gene	gene with protein product					NA		Standard	NM_022344	NM_022344	NA	Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.226T>C	17.37:g.30666953A>G	ENSP00000464275:p.Ser76Pro	NA	Q7Z2H4	37	CCDS58537.1	.	.	.	.	.	.	.	.	.	.	A	13.74	2.326033	0.41197	.	.	ENSG00000108666	ENST00000225805	.	.	.	5.49	5.49	0.81192	.	0.172475	0.51477	D	0.000084	T	0.77054	0.4074	M	0.61703	1.905	0.43879	D	0.996495	D	0.89917	1.0	D	0.85130	0.997	T	0.79662	-0.1710	9	0.87932	D	0	-4.6812	15.5785	0.76414	1.0:0.0:0.0:0.0	.	76	Q9HAS0	NJMU_HUMAN	P	76	.	ENSP00000225805:S76P	S	-	1	0	C17orf75	27691066	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.206000	0.65192	2.080000	0.62538	0.528000	0.53228	TCC	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447204.1		-	ENST00000577809.1	Missense_Mutation	SNP	17 : 30666953 - 30666953 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	258	60
ERCC4	2072	broad.mit.edu	37	16	14041754	14041754	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14041754C>T	ENST00000311895.7	+	11	2310	c.2301C>T	c.(2299-2301)ttC>ttT	p.F767F		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	767	Interaction with EME1 and ERCC1.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						GCAAGCCTTTCTCTCTCACTT	0.498		NA	Mis, N, F			skin basal cell, skin squamous cell, melanoma		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	excision repair cross-complementing rodent repair deficiency, complementation group 4		E	0													122	118	119			NA	NA	16		NA											NA				14041754		2197	4300	6497	SO:0001819	synonymous_variant	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595	2072	2072			3436	protein-coding gene	gene with protein product	xeroderma pigmentosum, complementation group F	133520	excision repair cross-complementing rodent repair deficiency, complementation group 4	XPF	NA	9579555, 8887684	Standard	NM_005236	NM_005236	NA	Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.2301C>T	16.37:g.14041754C>T		NA	A8K111|O00140|Q8TD83	37	CCDS32390.1																																																																																			ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109634.2		+	ENST00000311895.7	Silent	SNP	16 : 14041754 - 14041754 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	661	125
C1QA	712	broad.mit.edu	37	1	22964203	22964203	+	Nonsense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22964203A>T	ENST00000374642.3	+	2	298	c.94A>T	c.(94-96)Aag>Tag	p.K32*	C1QA_ENST00000402322.1_Nonsense_Mutation_p.K32*	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	32	Collagen-like.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACCAGACGGGAAGAAAGGGGA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	34	35			NA	NA	1		NA											NA				22964203		2203	4300	6503	SO:0001587	stop_gained			AF135157	CCDS226.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173372	ENSG00000173372	712	712		Complement system	1241	protein-coding gene	gene with protein product		120550	complement component 1, q subcomponent, alpha polypeptide		NA	1537612	Standard	NM_015991	NM_015991	NA	Approved		uc001bfy.3	P02745	OTTHUMG00000002893	ENST00000374642.3:c.94A>T	1.37:g.22964203A>T	ENSP00000363773:p.Lys32*	NA	B2R4X2|Q5T963	37	CCDS226.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.47|17.47	3.396592|3.396592	0.62177|0.62177	.|.	.|.	ENSG00000173372|ENSG00000173372	ENST00000339353|ENST00000374642;ENST00000438241;ENST00000402322	.|.	.|.	.|.	4.88|4.88	0.85|0.85	0.18980|0.18980	.|.	2.869200|.	0.01757|.	N|.	0.030313|.	T|.	0.56587|.	0.1995|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.66464|.	-0.5917|.	5|.	0.66056|0.51188	D|T	0.02|0.08	2.406|2.406	10.9783|10.9783	0.47480|0.47480	0.5354:0.4646:0.0:0.0|0.5354:0.4646:0.0:0.0	.|.	.|.	.|.	.|.	V|X	30|32	.|.	ENSP00000341271:E30V|ENSP00000363773:K32X	E|K	+|+	2|1	0|0	C1QA|C1QA	22836790|22836790	0.836000|0.836000	0.29430|0.29430	0.003000|0.003000	0.11579|0.11579	0.002000|0.002000	0.02628|0.02628	2.501000|2.501000	0.45389|0.45389	0.311000|0.311000	0.23014|0.23014	-0.488000|-0.488000	0.04728|0.04728	GAA|AAG	C1QA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000008087.2		+	ENST00000374642.3	Nonsense_Mutation	SNP	1 : 22964203 - 22964203 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	107	16
GPR123	84435	broad.mit.edu	37	10	134942310	134942310	+	Silent	SNP	C	C	T	rs9419122	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134942310C>T	ENST00000392607.3	+	7	1414	c.978C>T	c.(976-978)gaC>gaT	p.D326D	GPR123_ENST00000607359.1_Silent_p.D1045D|GPR123_ENST00000392606.2_Silent_p.D229D	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	326						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CCCGCAAGGACGCCCACCCCG	0.731		NA												15	0.01	0.03	0.01	2184	NA	0.9978	,	,	NA	4e-04	NA	NA	NA	0.008	0.8893	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0								C		84,4256		1,82,2087	21	20	20		978	-0.3	0	10	dbSNP_119	20	5,8485		0,5,4240	no	coding-synonymous	GPR123	NM_001083909.1		1,87,6327	TT,TC,CC	NA	0.0589,1.9355,0.6937		326/561	134942310	89,12741	2170	4245	6415	SO:0001819	synonymous_variant			AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177	84435	84435		-, GPCR / Class B : Orphans	13838	protein-coding gene	gene with protein product		612302			NA	12565841	Standard		XM_005252695	NA	Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.978C>T	10.37:g.134942310C>T		NA	A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	37	CCDS41580.1																																																																																			GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051113.2		+	ENST00000392607.3	Silent	SNP	10 : 134942310 - 134942310 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	184	40
SLC50A1	55974	broad.mit.edu	37	1	155108449	155108449	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155108449G>A	ENST00000368401.5	+	1	116	c.21G>A	c.(19-21)tgG>tgA	p.W7*	SLC50A1_ENST00000368404.4_Missense_Mutation_p.G21D|SLC50A1_ENST00000303343.8_Missense_Mutation_p.G21D|SLC50A1_ENST00000484157.1_Intron|SLC50A1_ENST00000368405.3_3'UTR	NM_001122837.1	NP_001116309.1	Q9BRV3	SWET1_HUMAN	solute carrier family 50 (sugar efflux transporter), member 1	0					positive regulation of gene expression, epigenetic	Golgi membrane|integral to membrane|plasma membrane	glucoside transmembrane transporter activity			endometrium(1)|lung(1)|ovary(1)|skin(1)	4						TTCACCCTTGGCATGTTCTCC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	31	32			NA	NA	1		NA											NA				155108449		2203	4300	6503	SO:0001587	stop_gained			AF126023, AF126024	CCDS1093.1, CCDS44238.1, CCDS44239.1, CCDS72929.1, CCDS72930.1	1q22	2013-07-17	2013-07-17	2010-11-30	ENSG00000169241	ENSG00000169241	55974	55974		Solute carriers	30657	protein-coding gene	gene with protein product	stromal cell protein	613683	recombination activating gene 1 activating protein 1	RAG1AP1	NA	21107422	Standard	NM_018845	NM_018845	NA	Approved	SCP, RP11-540D14.5, slv, RZPDo834D038D, HsSWEET1, SWEET1	uc001fhj.4	Q9BRV3	OTTHUMG00000035333	ENST00000368401.5:c.21G>A	1.37:g.155108449G>A	ENSP00000357386:p.Trp7*	NA	Q5SR64|Q6IAK6|Q96DC5|Q9UHQ2|Q9UHQ3	37	CCDS44239.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.472317|5.472317	0.96274|0.96274	.|.	.|.	ENSG00000169241|ENSG00000169241	ENST00000303343;ENST00000368404|ENST00000368401	.|.	.|.	.|.	4.85|4.85	1.56|1.56	0.23342|0.23342	.|.	0.206494|.	0.40064|.	N|.	0.001183|.	T|.	0.26666|.	0.0652|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	B;B|.	0.25272|.	0.122;0.024|.	B;B|.	0.28784|.	0.094;0.041|.	T|.	0.08146|.	-1.0736|.	7|.	0.35671|0.16420	T|T	0.21|0.52	-0.6989|-0.6989	12.2061|12.2061	0.54353|0.54353	0.0:0.5144:0.4856:0.0|0.0:0.5144:0.4856:0.0	.|.	21;21|.	Q9BRV3-3;Q9BRV3|.	.;SWET1_HUMAN|.	D|X	21|7	.|.	ENSP00000306146:G21D|ENSP00000357386:W7X	G|W	+|+	2|3	0|0	SLC50A1|SLC50A1	153375073|153375073	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	1.379000|1.379000	0.34340|0.34340	0.521000|0.521000	0.28445|0.28445	0.655000|0.655000	0.94253|0.94253	GGC|TGG	SLC50A1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085506.1		+	ENST00000368401.5	Nonsense_Mutation	SNP	1 : 155108449 - 155108449 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	210	11
FER	2241	broad.mit.edu	37	5	108294941	108294941	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108294941G>A	ENST00000281092.4	+	13	1933	c.1549G>A	c.(1549-1551)Gag>Aag	p.E517K	FER_ENST00000536402.1_3'UTR|FER_ENST00000438717.2_Missense_Mutation_p.E342K	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	517	SH2.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GTATCGATTCGAGGGCACTGG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(146;1051 1799 9836 27344 47401)							NA				0													121	116	118			NA	NA	5		NA											NA				108294941		2202	4300	6502	SO:0001583	missense			J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2241	2241	2.7.10.1	Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, SH2 domain containing	3655	protein-coding gene	gene with protein product	phosphoprotein NCP94, protein phosphatase 1, regulatory subunit 74	176942			NA		Standard	NM_005246	NM_005246	NA	Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.1549G>A	5.37:g.108294941G>A	ENSP00000281092:p.Glu517Lys	NA	B2RCR4|B4DSQ2	37	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	G	35	5.588898	0.96590	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	T;T	0.63255	-0.03;-0.03	6.07	6.07	0.98685	SH2 motif (4);	0.000000	0.85682	D	0.000000	T	0.79021	0.4376	M	0.64080	1.96	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.78404	-0.2217	10	0.72032	D	0.01	-23.2857	20.6593	0.99626	0.0:0.0:1.0:0.0	.	517	P16591	FER_HUMAN	K	517;342	ENSP00000281092:E517K;ENSP00000394297:E342K	ENSP00000281092:E517K	E	+	1	0	FER	108322840	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.476000	0.97823	2.885000	0.99019	0.655000	0.94253	GAG	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250664.1		+	ENST00000281092.4	Missense_Mutation	SNP	5 : 108294941 - 108294941 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	66
HOXB5	3215	broad.mit.edu	37	17	46670671	46670671	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46670671C>T	ENST00000239151.5	-	1	652	c.374G>A	c.(373-375)aGc>aAc	p.S125N	HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000465846.2_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	125						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						GGCGCTGGAGCTGGCTGAGGT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	32	31			NA	NA	17		NA											NA				46670671		2203	4300	6503	SO:0001583	missense				CCDS11530.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120075	ENSG00000120075	3215	3215		Homeoboxes / ANTP class : HOXL subclass	5116	protein-coding gene	gene with protein product		142960	homeo box B5	HOX2, HOX2A	NA	1973146, 1358459	Standard		NM_002147	NA	Approved		uc002inr.3	P09067	OTTHUMG00000159913	ENST00000239151.5:c.374G>A	17.37:g.46670671C>T	ENSP00000239151:p.Ser125Asn	NA	B2RC69|P09069|Q17RP4	37	CCDS11530.1	.	.	.	.	.	.	.	.	.	.	C	7.982	0.751490	0.15778	.	.	ENSG00000120075	ENST00000239151	D	0.92595	-3.07	5.31	4.34	0.51931	.	0.317667	0.37393	N	0.002101	D	0.90024	0.6885	M	0.65498	2.005	0.32462	N	0.544047	B	0.09022	0.002	B	0.09377	0.004	D	0.88061	0.2794	10	0.30078	T	0.28	.	13.4791	0.61326	0.0:0.9232:0.0:0.0768	.	125	P09067	HXB5_HUMAN	N	125	ENSP00000239151:S125N	ENSP00000239151:S125N	S	-	2	0	HOXB5	44025670	1.000000	0.71417	0.998000	0.56505	0.217000	0.24651	2.164000	0.42387	1.224000	0.43551	0.455000	0.32223	AGC	HOXB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358148.2		-	ENST00000239151.5	Missense_Mutation	SNP	17 : 46670671 - 46670671 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	71
REXO2	25996	broad.mit.edu	37	11	114310303	114310303	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:114310303A>G	ENST00000539275.1	+	1	98	c.53A>G	c.(52-54)cAc>cGc	p.H18R	REXO2_ENST00000265881.5_Missense_Mutation_p.H18R|REXO2_ENST00000544196.1_Missense_Mutation_p.H18R|REXO2_ENST00000539754.1_Missense_Mutation_p.H18R|RP11-212D19.4_ENST00000544347.1_Intron			Q9Y3B8	ORN_HUMAN	RNA exonuclease 2	18					nucleotide metabolic process	mitochondrion|nucleus	3'-5' exonuclease activity|nucleic acid binding			cervix(1)|endometrium(1)|kidney(1)|lung(1)	4		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)		GGTGGGAGTCACGGACGGTTC	0.711		NA									OREG0021351	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	33	33			NA	NA	11		NA											NA				114310303		2199	4294	6493	SO:0001583	missense			AF151872	CCDS8371.1	11q23.2	2013-06-10	2013-06-10		ENSG00000076043	ENSG00000076043	25996	25996			17851	protein-coding gene	gene with protein product		607149	REX2, RNA exonuclease 2 homolog (S. cerevisiae)		NA	10851236, 10810093, 23741365	Standard	NM_015523	NM_015523	NA	Approved	DKFZP566E144, SFN, CGI-114	uc001poy.3	Q9Y3B8	OTTHUMG00000168271	ENST00000539275.1:c.53A>G	11.37:g.114310303A>G	ENSP00000443842:p.His18Arg	1457	Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	37		.	.	.	.	.	.	.	.	.	.	a	3.772	-0.047394	0.07407	.	.	ENSG00000076043	ENST00000265881;ENST00000544196;ENST00000539754;ENST00000539275	.	.	.	5.27	2.42	0.29668	.	1.206880	0.05657	N	0.586217	T	0.28101	0.0693	N	0.08118	0	0.58432	D	0.999992	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39921	-0.9590	9	0.05351	T	0.99	2.6504	6.1819	0.20476	0.2333:0.1352:0.6315:0.0	.	18;18	Q9BTR4;Q9Y3B8	.;ORN_HUMAN	R	18	.	ENSP00000265881:H18R	H	+	2	0	REXO2	113815513	0.025000	0.19082	0.737000	0.30932	0.771000	0.43674	0.592000	0.23984	0.235000	0.21160	-0.147000	0.13772	CAC	REXO2-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000399092.1		+	ENST00000539275.1	Missense_Mutation	SNP	11 : 114310303 - 114310303 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	144	13
ASTN2	23245	broad.mit.edu	37	9	119802151	119802151	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119802151C>T	ENST00000361209.2	-	5	1348	c.1217G>A	c.(1216-1218)tGt>tAt	p.C406Y	ASTN2_ENST00000373996.3_Missense_Mutation_p.C457Y|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000313400.4_Missense_Mutation_p.C457Y	NM_014010.4	NP_054729.3	O75129	ASTN2_HUMAN	astrotactin 2	457						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGTGAGTGGACAAGACATCTG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	90	97			NA	NA	9		NA											NA				119802151		2203	4300	6503	SO:0001583	missense			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219	23245	23245			17021	protein-coding gene	gene with protein product		612856			NA	9734811	Standard	NM_014010	NM_014010	NA	Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000361209.2:c.1217G>A	9.37:g.119802151C>T	ENSP00000354504:p.Cys406Tyr	NA	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	37	CCDS6815.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873619	0.72180	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.16897	2.45;2.45;2.31;2.49	5.92	5.92	0.95590	.	0.113047	0.64402	D	0.000008	T	0.33876	0.0878	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.91635	0.999;0.991;0.999	T	0.00731	-1.1590	9	.	.	.	-13.2905	20.3138	0.98647	0.0:1.0:0.0:0.0	.	406;457;457	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	Y	457;457;184;406	ENSP00000314038:C457Y;ENSP00000363108:C457Y;ENSP00000363098:C184Y;ENSP00000354504:C406Y	.	C	-	2	0	ASTN2	118841972	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.459000	0.80802	2.814000	0.96858	0.585000	0.79938	TGT	ASTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055428.2		-	ENST00000361209.2	Missense_Mutation	SNP	9 : 119802151 - 119802151 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	155	29
C5orf45	51149	broad.mit.edu	37	5	179275064	179275064	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179275064A>C	ENST00000518219.1	-	3	140	c.129T>G	c.(127-129)gcT>gcG	p.A43A	C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000376931.2_Intron|C5orf45_ENST00000518235.1_Silent_p.A43A|C5orf45_ENST00000292586.6_Silent_p.A43A|C5orf45_ENST00000521333.1_Silent_p.A43A|C5orf45_ENST00000403396.2_Silent_p.A85A|C5orf45_ENST00000523084.1_Intron			Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	43										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						CTTCACCATAAGCCTGAGAAA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	95	95			NA	NA	5		NA											NA				179275064		2203	4300	6503	SO:0001819	synonymous_variant				CCDS34318.1, CCDS34319.1	5q35.3	2008-07-10			ENSG00000161010	ENSG00000161010	51149	51149			30817	protein-coding gene	gene with protein product	truncated calcium binding protein				NA		Standard	NM_016175	NM_016175	NA	Approved	MGC65027, MGC78537, DKFZp686L2452, LOC51149	uc003mla.3	Q6NTE8	OTTHUMG00000163490	ENST00000518219.1:c.129T>G	5.37:g.179275064A>C		NA	B5MD09|Q7Z3D8|Q9BUC1|Q9UN54	37																																																																																				C5orf45-006	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000374336.1		-	ENST00000518219.1	Silent	SNP	5 : 179275064 - 179275064 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	418	115
ZNF471	57573	broad.mit.edu	37	19	57036570	57036570	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57036570T>C	ENST00000591537.1	+	5	839	c.713T>C	c.(712-714)tTg>tCg	p.L238S	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000308031.5_Silent_p.I378I			Q9BX82	ZN471_HUMAN	zinc finger protein 471	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TTAATTGCATTGATTGTGGGA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)							NA				0													88	93	91			NA	NA	19		NA											NA				57036570		2203	4300	6503	SO:0001583	missense			AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263	57573	57573		Zinc fingers, C2H2-type, -	23226	protein-coding gene	gene with protein product					NA	10718198	Standard	NM_020813	NM_020813	NA	Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000591537.1:c.713T>C	19.37:g.57036570T>C	ENSP00000466224:p.Leu238Ser	NA	O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	37																																																																																				ZNF471-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000458406.1		+	ENST00000591537.1	Missense_Mutation	SNP	19 : 57036570 - 57036570 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	702	130
ZNF347	84671	broad.mit.edu	37	19	53652554	53652554	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53652554C>T	ENST00000452676.2	-	3	508	c.82G>A	c.(82-84)Gct>Act	p.A28T	ZNF347_ENST00000601469.2_Missense_Mutation_p.A28T|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Missense_Mutation_p.A28T	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	28	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GTCCTCTGAGCGGGGTCCAGG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(64;205 1597 17324 45721)							NA				0													109	112	111			NA	NA	19		NA											NA				53652554		2203	4300	6503	SO:0001583	missense			AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937	84671	84671		Zinc fingers, C2H2-type, -	16447	protein-coding gene	gene with protein product					NA		Standard	NM_032584	NM_032584	NA	Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000452676.2:c.82G>A	19.37:g.53652554C>T	ENSP00000405218:p.Ala28Thr	NA	B9EG59|Q8TCN1	37	CCDS54314.1	.	.	.	.	.	.	.	.	.	.	C	4.206	0.037002	0.08148	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.02236	4.38;4.38	2.38	1.15	0.20763	Krueppel-associated box (4);	.	.	.	.	T	0.02119	0.0066	M	0.63428	1.95	0.09310	N	1	B;P	0.41420	0.366;0.749	B;B	0.27715	0.013;0.082	T	0.45498	-0.9257	9	0.36615	T	0.2	.	4.2304	0.10601	0.2576:0.4897:0.2527:0.0	.	28;28	G5E9N4;Q96SE7	.;ZN347_HUMAN	T	28	ENSP00000334146:A28T;ENSP00000405218:A28T	ENSP00000334146:A28T	A	-	1	0	ZNF347	58344366	0.000000	0.05858	0.115000	0.21578	0.131000	0.20780	-0.229000	0.09098	1.337000	0.45525	0.591000	0.81541	GCT	ZNF347-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464172.2		-	ENST00000452676.2	Missense_Mutation	SNP	19 : 53652554 - 53652554 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	751	139
ADAMTS3	9508	broad.mit.edu	37	4	73205355	73205355	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73205355C>T	ENST00000286657.4	-	5	753	c.717G>A	c.(715-717)caG>caA	p.Q239Q		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	239					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CATTCAGCTGCTGGTGGATGT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(168;1941 2048 2918 13048 43078)							NA				0													222	216	218			NA	NA	4		NA											NA				73205355		2203	4300	6503	SO:0001819	synonymous_variant			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	9508	9508	3.4.24.-	ADAM metallopeptidases with thrombospondin type 1 motif	219	protein-coding gene	gene with protein product		605011	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3		NA	10094461	Standard		NM_014243	NA	Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.717G>A	4.37:g.73205355C>T		NA	A1L3U9|Q9BXZ8	37	CCDS3553.1																																																																																			ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252164.2		-	ENST00000286657.4	Silent	SNP	4 : 73205355 - 73205355 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1126	197
HHIPL2	79802	broad.mit.edu	37	1	222713615	222713615	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:222713615C>T	ENST00000343410.6	-	4	1245	c.1187G>A	c.(1186-1188)cGa>cAa	p.R396Q		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	396					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)		CGAGGGGACTCGGTACCGCTT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	69	71			NA	NA	1		NA											NA				222713615		2203	4300	6503	SO:0001583	missense			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.1187G>A	1.37:g.222713615C>T	ENSP00000342118:p.Arg396Gln	NA	Q6GU65|Q96BT4|Q96BU5|Q9H8A0	37	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751619	0.31046	.	.	ENSG00000143512	ENST00000343410	T	0.11495	2.77	4.95	4.04	0.47022	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.211701	0.40554	N	0.001068	T	0.11024	0.0269	L	0.58669	1.825	0.34984	D	0.754342	P	0.35959	0.53	B	0.31101	0.124	T	0.21143	-1.0254	10	0.23302	T	0.38	-5.2665	12.7244	0.57162	0.0:0.9191:0.0:0.0809	.	396	Q6UWX4	HIPL2_HUMAN	Q	396	ENSP00000342118:R396Q	ENSP00000342118:R396Q	R	-	2	0	HHIPL2	220780238	0.763000	0.28462	0.933000	0.37362	0.650000	0.38633	1.408000	0.34668	1.058000	0.40530	0.313000	0.20887	CGA	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091499.2		-	ENST00000343410.6	Missense_Mutation	SNP	1 : 222713615 - 222713615 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	561	140
VCAM1	7412	broad.mit.edu	37	1	101190358	101190358	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101190358T>C	ENST00000294728.2	+	4	941	c.840T>C	c.(838-840)gcT>gcC	p.A280A	VCAM1_ENST00000370119.4_Silent_p.A218A|VCAM1_ENST00000347652.2_Silent_p.A280A|VCAM1_ENST00000370115.1_Silent_p.A280A	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	280	Ig-like C2-type 3.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CCTTAATTGCTATGAGGATGG	0.393		NA											t	0	0	NA	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0	0	EXOME	NA	NA	6e-04	SNP								NA				0													94	91	92			NA	NA	1		NA											NA				101190358		2203	4300	6503	SO:0001819	synonymous_variant			M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692	7412	7412		CD molecules, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Endogenous ligands	12663	protein-coding gene	gene with protein product		192225			NA		Standard	NM_001078	NM_080682	NA	Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.840T>C	1.37:g.101190358T>C		NA	A8K6R7|Q6NUP8	37	CCDS773.1																																																																																			VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000030213.1		+	ENST00000294728.2	Silent	SNP	1 : 101190358 - 101190358 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	261	23
FMN2	56776	broad.mit.edu	37	1	240256734	240256734	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240256734G>A	ENST00000319653.9	+	1	1555	c.1325G>A	c.(1324-1326)aGg>aAg	p.R442K		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	442					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGAGCCCCAGGATCAAGAGG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	54	52			NA	NA	1		NA											NA				240256734		2200	4295	6495	SO:0001583	missense			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816	56776	56776			14074	protein-coding gene	gene with protein product		606373			NA	10781961	Standard	XM_371352	NM_020066	NA	Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1325G>A	1.37:g.240256734G>A	ENSP00000318884:p.Arg442Lys	NA	B0QZA7|Q59GF6|Q5VU37|Q9NZ55	37	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101876	0.37048	.	.	ENSG00000155816	ENST00000319653	T	0.80994	-1.44	4.51	3.6	0.41247	.	0.301205	0.27981	N	0.017078	T	0.63768	0.2539	L	0.27053	0.805	0.80722	D	1	B	0.18863	0.031	B	0.12837	0.008	T	0.54516	-0.8282	10	0.25106	T	0.35	.	4.2569	0.10721	0.1893:0.0:0.5758:0.2349	.	442	Q9NZ56	FMN2_HUMAN	K	442	ENSP00000318884:R442K	ENSP00000318884:R442K	R	+	2	0	FMN2	238323357	0.974000	0.33945	1.000000	0.80357	0.976000	0.68499	1.751000	0.38339	1.105000	0.41606	0.563000	0.77884	AGG	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096217.2		+	ENST00000319653.9	Missense_Mutation	SNP	1 : 240256734 - 240256734 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	629	141
HMCN1	83872	broad.mit.edu	37	1	185969264	185969264	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:185969264C>T	ENST00000271588.4	+	26	4191	c.3962C>T	c.(3961-3963)aCa>aTa	p.T1321I	HMCN1_ENST00000367492.2_Missense_Mutation_p.T1321I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1321	Ig-like C2-type 10.				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						GAAGATGGCACATTGCTGGTT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	133	137			NA	NA	1		NA											NA				185969264		2203	4300	6503	SO:0001583	missense			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.3962C>T	1.37:g.185969264C>T	ENSP00000271588:p.Thr1321Ile	NA	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.316399	0.23908	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68181	-0.31;-0.31	5.46	3.54	0.40534	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.313688	0.37715	N	0.001972	T	0.59838	0.2223	L	0.51422	1.61	0.09310	N	1	P	0.37594	0.601	B	0.39876	0.312	T	0.47812	-0.9088	10	0.24483	T	0.36	.	11.1561	0.48489	0.0:0.6935:0.2396:0.0669	.	1321	Q96RW7	HMCN1_HUMAN	I	1321	ENSP00000271588:T1321I;ENSP00000356462:T1321I	ENSP00000271588:T1321I	T	+	2	0	HMCN1	184235887	0.056000	0.20664	0.074000	0.20217	0.277000	0.26821	2.903000	0.48711	0.635000	0.30488	0.558000	0.71614	ACA	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131848.1		+	ENST00000271588.4	Missense_Mutation	SNP	1 : 185969264 - 185969264 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	346	73
TNFRSF1A	7132	broad.mit.edu	37	12	6442635	6442635	+	Missense_Mutation	SNP	C	C	T	rs104895278		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6442635C>T	ENST00000162749.2	-	4	669	c.370G>A	c.(370-372)Gtg>Atg	p.V124M	TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.V81M|TNFRSF1A_ENST00000366159.4_Missense_Mutation_p.V124M|TNFRSF1A_ENST00000437813.3_5'UTR	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	124					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						CAGCCACACACGGTGTCCCGG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM065492	TNFRSF1A	M	rs104895278						94	90	91			NA	NA	12		NA											NA				6442635		2203	4300	6503	SO:0001583	missense			M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182	7132	7132		Tumor necrosis factor receptor superfamily, CD molecules	11916	protein-coding gene	gene with protein product		191190		TNFR1	NA	1655358, 2158863	Standard	NM_001065	NM_001065	NA	Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.370G>A	12.37:g.6442635C>T	ENSP00000162749:p.Val124Met	NA	A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|D3DUR1|Q9UCA4	37	CCDS8542.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686207	0.68157	.	.	ENSG00000067182	ENST00000162749;ENST00000540022;ENST00000539372;ENST00000366159;ENST00000440083;ENST00000536194	D;D;D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23;-3.23;-3.23	5.06	4.14	0.48551	TNFR/CD27/30/40/95 cysteine-rich region (4);	0.203911	0.42053	D	0.000770	D	0.95999	0.8697	M	0.79475	2.455	0.41995	D	0.990861	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.70487	0.969;0.917;0.961	D	0.95675	0.8727	10	0.51188	T	0.08	-12.9729	13.0176	0.58766	0.0:0.8363:0.1637:0.0	.	124;81;124	B5M0B5;F5H061;P19438	.;.;TNR1A_HUMAN	M	124;81;124;124;124;115	ENSP00000162749:V124M;ENSP00000438343:V81M;ENSP00000442059:V124M;ENSP00000380389:V124M;ENSP00000413224:V124M;ENSP00000442919:V115M	ENSP00000162749:V124M	V	-	1	0	TNFRSF1A	6312896	0.401000	0.25303	0.637000	0.29366	0.931000	0.56810	3.042000	0.49815	1.077000	0.40990	0.561000	0.74099	GTG	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399038.1		-	ENST00000162749.2	Missense_Mutation	SNP	12 : 6442635 - 6442635 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	210	38
MSH4	4438	broad.mit.edu	37	1	76343977	76343977	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:76343977A>G	ENST00000263187.3	+	11	1618	c.1514A>G	c.(1513-1515)tAc>tGc	p.Y505C		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	505					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AGAAGAACATACACAGAGATT	0.363		NA						Mismatch excision repair (MMR)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	113	114			NA	NA	1		NA											NA				76343977		2203	4300	6503	SO:0001583	missense			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468	4438	4438			7327	protein-coding gene	gene with protein product		602105	mutS (E. coli) homolog 4, mutS homolog 4 (E. coli)		NA	9299235	Standard	NM_002440	NM_002440	NA	Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.1514A>G	1.37:g.76343977A>G	ENSP00000263187:p.Tyr505Cys	NA	Q5T4U6|Q8NEB3|Q9UNP8	37	CCDS670.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.135364	0.77662	.	.	ENSG00000057468	ENST00000263187	D	0.89810	-2.57	5.49	5.49	0.81192	DNA mismatch repair protein MutS, clamp (1);DNA mismatch repair protein MutS, core (3);	0.123368	0.56097	D	0.000025	D	0.94515	0.8234	M	0.88310	2.945	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	D	0.95277	0.8382	10	0.62326	D	0.03	-2.2644	15.5975	0.76599	1.0:0.0:0.0:0.0	.	505	O15457	MSH4_HUMAN	C	505	ENSP00000263187:Y505C	ENSP00000263187:Y505C	Y	+	2	0	MSH4	76116565	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.905000	0.92613	2.082000	0.62665	0.528000	0.53228	TAC	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026983.1		+	ENST00000263187.3	Missense_Mutation	SNP	1 : 76343977 - 76343977 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	50
METTL7B	196410	broad.mit.edu	37	12	56075767	56075767	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56075767C>A	ENST00000394252.3	+	1	438	c.229C>A	c.(229-231)Ctg>Atg	p.L77M		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	77							methyltransferase activity			kidney(1)|large_intestine(1)|lung(4)	6						CCTACTGGAGCTGGGCTGCGG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	52	52			NA	NA	12		NA											NA				56075767		2203	4300	6503	SO:0001583	missense				CCDS8887.2	12q13.2	2012-06-12			ENSG00000170439	ENSG00000170439	196410	196410			28276	protein-coding gene	gene with protein product	associated with lipid droplets 1				NA	17004324	Standard	NM_152637	NM_152637	NA	Approved	MGC17301, ALDI	uc010spr.2	Q6UX53	OTTHUMG00000152665	ENST00000394252.3:c.229C>A	12.37:g.56075767C>A	ENSP00000377796:p.Leu77Met	NA	A8K247|Q8WUI1	37	CCDS8887.2	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567759	0.65651	.	.	ENSG00000170439	ENST00000394252	T	0.12672	2.66	4.96	2.08	0.27032	Methyltransferase type 11 (1);	0.300406	0.32328	N	0.006246	T	0.33904	0.0879	M	0.82193	2.58	0.37317	D	0.909383	D	0.57899	0.981	D	0.65573	0.936	T	0.24870	-1.0148	10	0.87932	D	0	-31.231	8.4467	0.32847	0.0:0.6244:0.2933:0.0824	.	77	Q6UX53	MET7B_HUMAN	M	77	ENSP00000377796:L77M	ENSP00000377796:L77M	L	+	1	2	METTL7B	54362034	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	1.480000	0.35464	0.257000	0.21650	0.655000	0.94253	CTG	METTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327271.1		+	ENST00000394252.3	Missense_Mutation	SNP	12 : 56075767 - 56075767 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	190	36
IBA57	200205	broad.mit.edu	37	1	228363176	228363176	+	Missense_Mutation	SNP	G	G	A	rs150912462	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228363176G>A	ENST00000366711.3	+	3	1035	c.1033G>A	c.(1033-1035)Gca>Aca	p.A345T	IBA57_ENST00000546123.1_Missense_Mutation_p.A152T|IBA57_ENST00000484749.1_3'UTR	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	345					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						GGCCTTAGCCGCATCTGTGCC	0.647		NA											G	1	5e-04	NA	NA	2184	NA	1	,	,	NA	2e-04	0.0013	NA	NA	5e-04	0.9547	LOWCOV,EXOME	NA	NA	0.001	SNP								NA				0								G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	72	78	76		1033	4.3	0	1	dbSNP_134	76	4,8594	3.7+/-12.6	0,4,4295	yes	missense	IBA57	NM_001010867.2	58	0,5,6497	AA,AG,GG	NA	0.0465,0.0227,0.0384	benign	345/357	228363176	5,12999	2203	4299	6502	SO:0001583	missense			AK022796	CCDS31046.1	1q42.13	2011-03-11	2011-03-11	2011-03-11	ENSG00000181873	ENSG00000181873	200205	200205			27302	protein-coding gene	gene with protein product	iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa	615316	chromosome 1 open reading frame 69	C1orf69	NA		Standard	NM_001010867	NM_001010867	NA	Approved	FLJ12734	uc001hsl.4	Q5T440	OTTHUMG00000039769	ENST00000366711.3:c.1033G>A	1.37:g.228363176G>A	ENSP00000355672:p.Ala345Thr	NA		37	CCDS31046.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.52	2.261711	0.39995	2.27E-4	4.65E-4	ENSG00000181873	ENST00000366711;ENST00000546123	T;T	0.45276	0.9;0.9	5.29	4.34	0.51931	.	0.217790	0.47093	D	0.000253	T	0.48390	0.1497	M	0.69823	2.125	0.43444	D	0.995629	P	0.38078	0.617	B	0.42319	0.383	T	0.44205	-0.9343	10	0.25751	T	0.34	-5.6154	17.4459	0.87577	0.0:0.1343:0.8657:0.0	.	345	Q5T440	CAF17_HUMAN	T	345;152	ENSP00000355672:A345T;ENSP00000437347:A152T	ENSP00000355672:A345T	A	+	1	0	IBA57	226429799	1.000000	0.71417	0.023000	0.16930	0.168000	0.22595	6.874000	0.75546	2.753000	0.94483	0.650000	0.86243	GCA	IBA57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095980.1		+	ENST00000366711.3	Missense_Mutation	SNP	1 : 228363176 - 228363176 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	844	124
RELN	5649	broad.mit.edu	37	7	103197551	103197551	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103197551G>A	ENST00000428762.1	-	38	5829	c.5670C>T	c.(5668-5670)atC>atT	p.I1890I	RELN_ENST00000424685.2_Silent_p.I1890I|RELN_ENST00000343529.5_Silent_p.I1890I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1890					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)		GGTGCCAAGTGATTCCTCCAC	0.383		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													134	125	128			NA	NA	7		NA											NA				103197551		2203	4300	6503	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.5670C>T	7.37:g.103197551G>A		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 : 103197551 - 103197551 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	68
STAT3	6774	broad.mit.edu	37	17	40468908	40468908	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40468908C>T	ENST00000264657.5	-	23	2468	c.2156G>A	c.(2155-2157)aGc>aAc	p.S719N	STAT3_ENST00000585517.1_Intron|STAT3_ENST00000404395.3_Missense_Mutation_p.S718N|STAT3_ENST00000588969.1_Missense_Mutation_p.S719N|STAT3_ENST00000389272.3_Missense_Mutation_p.S621N	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	719					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		AATGGTATTGCTGCAGGTCGT	0.483		NA							Hyperimmunoglobulin E Recurrent Infection Syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	51	51			NA	NA	17		NA											NA				40468908		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610	6774	6774		SH2 domain containing	11364	protein-coding gene	gene with protein product		102582			NA	7512451	Standard	NM_139276, NM_003150	NM_139276	NA	Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.2156G>A	17.37:g.40468908C>T	ENSP00000264657:p.Ser719Asn	NA	O14916|Q9BW54	37	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156564	0.57259	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	D;D;D	0.96651	-4.08;-4.08;-4.08	5.09	5.09	0.68999	.	0.211503	0.49305	D	0.000154	D	0.91593	0.7344	N	0.14661	0.345	0.45718	D	0.998629	B;B	0.22146	0.065;0.039	B;B	0.18871	0.023;0.01	D	0.87653	0.2529	10	0.22706	T	0.39	-36.6963	18.6865	0.91567	0.0:1.0:0.0:0.0	.	718;719	P40763-2;P40763	.;STAT3_HUMAN	N	719;621;718	ENSP00000264657:S719N;ENSP00000373923:S621N;ENSP00000384943:S718N	ENSP00000264657:S719N	S	-	2	0	STAT3	37722434	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.012000	0.70767	2.662000	0.90505	0.655000	0.94253	AGC	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319353.3		-	ENST00000264657.5	Missense_Mutation	SNP	17 : 40468908 - 40468908 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	84
TNK2	10188	broad.mit.edu	37	3	195593856	195593856	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195593856G>T	ENST00000333602.6	-	14	3631	c.3014C>A	c.(3013-3015)cCc>cAc	p.P1005H	TNK2_ENST00000392400.1_Missense_Mutation_p.P1005H|TNK2_ENST00000428187.1_Missense_Mutation_p.P1007H|TNK2_ENST00000381916.2_Missense_Mutation_p.P1053H	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	1005				Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CTCCCCTCTGGGCCGCAGACC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	34	33			NA	NA	3		NA											NA				195593856		2200	4300	6500	SO:0001583	missense			L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938	10188	10188			19297	protein-coding gene	gene with protein product	activated Cdc42-associated kinase 1	606994			NA	8497321, 14506255	Standard	NM_005781	XM_006713460	NA	Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.3014C>A	3.37:g.195593856G>T	ENSP00000329425:p.Pro1005His	NA	Q6ZMQ0|Q8N6U7|Q96H59	37	CCDS33928.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.181629	0.57800	.	.	ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000416152;ENST00000428187;ENST00000392400	T;T;T;T;T	0.74947	-0.82;-0.89;2.94;-0.87;-0.82	5.85	5.85	0.93711	.	0.114465	0.64402	D	0.000013	T	0.81541	0.4844	L	0.36672	1.1	0.80722	D	1	P;D;D;D	0.89917	0.947;0.999;0.976;1.0	P;P;P;D	0.70487	0.628;0.855;0.628;0.969	T	0.82436	-0.0458	10	0.72032	D	0.01	.	18.7512	0.91816	0.0:0.0:1.0:0.0	.	1005;1053;1007;532	Q07912;Q07912-3;C9J1X3;B3KXJ4	ACK1_HUMAN;.;.;.	H	1005;1053;574;1007;1005	ENSP00000329425:P1005H;ENSP00000371341:P1053H;ENSP00000398614:P574H;ENSP00000392546:P1007H;ENSP00000376201:P1005H	ENSP00000329425:P1005H	P	-	2	0	TNK2	197078253	1.000000	0.71417	0.987000	0.45799	0.639000	0.38242	4.289000	0.59013	2.768000	0.95171	0.655000	0.94253	CCC	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341437.3		-	ENST00000333602.6	Missense_Mutation	SNP	3 : 195593856 - 195593856 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	202	8
CDK12	51755	broad.mit.edu	37	17	37618956	37618956	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37618956A>C	ENST00000447079.4	+	1	665	c.632A>C	c.(631-633)aAa>aCa	p.K211T	CDK12_ENST00000430627.2_Missense_Mutation_p.K211T	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	211					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AAAAGTTACAAAACAGTGGAC	0.507		NA	Mis, N, F		serous ovarian					TCGA Ovarian(9;0.13)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258	51755	51755		Cyclin-dependent kinases	24224	protein-coding gene	gene with protein product	CDC2 related protein kinase 7	615514	Cdc2-related kinase, arginine/serine-rich	CRKRS	NA	10048485, 11683387, 19884882	Standard	NM_016507	XM_005257456	NA	Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.632A>C	17.37:g.37618956A>C	ENSP00000398880:p.Lys211Thr	NA	A7E2B2|B4DYX4|B9EIQ6|O94978	37	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.113683	0.56398	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.42513	0.97;0.97	5.07	5.07	0.68467	.	0.000000	0.46442	D	0.000288	T	0.56992	0.2023	L	0.44542	1.39	0.39766	D	0.97209	D;D;D	0.89917	0.999;0.993;1.0	D;D;D	0.83275	0.994;0.968;0.996	T	0.62282	-0.6887	10	0.72032	D	0.01	-10.8059	14.8276	0.70125	1.0:0.0:0.0:0.0	.	211;211;211	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	T	211	ENSP00000407720:K211T;ENSP00000398880:K211T	ENSP00000407720:K211T	K	+	2	0	CDK12	34872482	1.000000	0.71417	0.996000	0.52242	0.942000	0.58702	7.154000	0.77437	1.907000	0.55213	0.379000	0.24179	AAA	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256941.4		+	ENST00000447079.4	Missense_Mutation	SNP	17 : 37618956 - 37618956 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	562	129
MDGA2	161357	broad.mit.edu	37	14	47324240	47324240	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:47324240A>T	ENST00000426342.1	-	15	2722	c.1976T>A	c.(1975-1977)aTt>aAt	p.I659N	MDGA2_ENST00000399222.3_Missense_Mutation_p.I90N|MDGA2_ENST00000439988.3_Missense_Mutation_p.I957N|MDGA2_ENST00000399232.2_Missense_Mutation_p.I888N|MDGA2_ENST00000357362.3_Missense_Mutation_p.I659N	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	888					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AAATGAAGTAATTGGGTATAT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	124	128			NA	NA	14		NA											NA				47324240		1816	4076	5892	SO:0001583	missense			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915	161357	161357		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	19835	protein-coding gene	gene with protein product		611128	MAM domain containing 1	MAMDC1	NA	15019943	Standard	NM_182830	NM_001113498	NA	Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000426342.1:c.1976T>A	14.37:g.47324240A>T	ENSP00000405456:p.Ile659Asn	NA		37	CCDS41948.1	.	.	.	.	.	.	.	.	.	.	A	10.88	1.475480	0.26511	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000399222;ENST00000357362	T;T;T;T;T	0.01998	4.51;4.51;4.51;4.51;4.51	4.73	4.73	0.59995	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.126462	0.34314	U	0.004061	T	0.01189	0.0039	N	0.02697	-0.525	0.33543	D	0.595187	B	0.02656	0.0	B	0.09377	0.004	T	0.36866	-0.9730	10	0.40728	T	0.16	.	7.311	0.26475	0.8997:0.0:0.1003:0.0	.	888	Q7Z553	MDGA2_HUMAN	N	888;659;957;90;659	ENSP00000400011:I888N;ENSP00000405456:I659N;ENSP00000382178:I957N;ENSP00000382168:I90N;ENSP00000349925:I659N	ENSP00000349925:I659N	I	-	2	0	MDGA2	46393990	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.795000	0.55499	1.890000	0.54733	0.455000	0.32223	ATT	MDGA2-202	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277084.2		-	ENST00000426342.1	Missense_Mutation	SNP	14 : 47324240 - 47324240 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	274	29
CPT1B	1375	broad.mit.edu	37	22	51012041	51012041	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51012041C>A	ENST00000360719.2	-	10	1211	c.1074G>T	c.(1072-1074)caG>caT	p.Q358H	CPT1B_ENST00000457250.1_Missense_Mutation_p.Q324H|CPT1B_ENST00000312108.7_Missense_Mutation_p.Q358H|CPT1B_ENST00000405237.3_Missense_Mutation_p.Q358H|CPT1B_ENST00000434492.2_Missense_Mutation_p.Q155H|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Intron|CPT1B_ENST00000395650.2_Missense_Mutation_p.Q358H	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	358					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TCTCCAGATCCTGAGGCTTGA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(170;988 1933 25577 30295 48163)							NA				0													53	52	53			NA	NA	22		NA											NA				51012041		2203	4300	6503	SO:0001583	missense			U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560	1375	1375			2329	protein-coding gene	gene with protein product		601987			NA	9070950	Standard	NM_152246	NM_152245	NA	Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1074G>T	22.37:g.51012041C>A	ENSP00000353945:p.Gln358His	NA	Q13389|Q99655|Q9BY90	37	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.245331	0.22796	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000434492;ENST00000395650	D;D;D;T;T;D	0.89415	-2.51;-2.51;-2.51;-1.37;-1.37;-2.51	5.27	-3.92	0.04155	.	0.547236	0.20178	N	0.097594	T	0.69931	0.3166	N	0.01464	-0.85	0.09310	N	0.999997	B;B;B	0.26775	0.083;0.159;0.159	B;B;B	0.42625	0.043;0.217;0.393	T	0.68021	-0.5519	10	0.14252	T	0.57	-3.961	3.712	0.08423	0.1123:0.1921:0.4703:0.2252	.	324;155;358	B7Z4U4;A2RRE8;Q92523	.;.;CPT1B_HUMAN	H	358;358;358;324;155;358	ENSP00000385486:Q358H;ENSP00000312189:Q358H;ENSP00000353945:Q358H;ENSP00000409342:Q324H;ENSP00000410966:Q155H;ENSP00000379011:Q358H	ENSP00000312189:Q358H	Q	-	3	2	CPT1B	49358907	0.000000	0.05858	0.061000	0.19648	0.902000	0.53008	-2.454000	0.01004	-0.741000	0.04797	0.555000	0.69702	CAG	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317264.5		-	ENST00000360719.2	Missense_Mutation	SNP	22 : 51012041 - 51012041 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	360	61
NOTCH2	4853	broad.mit.edu	37	1	120466323	120466323	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120466323G>T	ENST00000256646.2	-	26	5015	c.4796C>A	c.(4795-4797)gCt>gAt	p.A1599D	NOTCH2_ENST00000493703.1_5'UTR	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1599	Negative regulatory region (NRR).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTCTTCATAGCAGCTGACTT	0.517		NA	N, F, Mis		marginal zone lymphoma, DLBCL				Alagille Syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													105	100	102			NA	NA	1		NA											NA				120466323		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250	4853	4853		Ankyrin repeat domain containing	7882	protein-coding gene	gene with protein product		600275	Notch (Drosophila) homolog 2, Notch homolog 2 (Drosophila)		NA	7698746	Standard	NM_024408	NM_001200001	NA	Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.4796C>A	1.37:g.120466323G>T	ENSP00000256646:p.Ala1599Asp	NA	Q5T3X7|Q99734|Q9H240	37	CCDS908.1	.	.	.	.	.	.	.	.	.	.	G	8.245	0.807633	0.16467	.	.	ENSG00000134250	ENST00000256646	D	0.81821	-1.54	6.08	5.17	0.71159	.	0.201896	0.24298	U	0.039751	T	0.57858	0.2082	L	0.55481	1.735	0.38961	D	0.958543	P	0.43477	0.808	B	0.33690	0.168	T	0.61282	-0.7094	10	0.13853	T	0.58	.	12.4833	0.55856	0.0772:0.0:0.9228:0.0	.	1599	Q04721	NOTC2_HUMAN	D	1599	ENSP00000256646:A1599D	ENSP00000256646:A1599D	A	-	2	0	NOTCH2	120267846	0.980000	0.34600	0.774000	0.31636	0.969000	0.65631	3.271000	0.51608	1.597000	0.50072	0.655000	0.94253	GCT	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033679.1		-	ENST00000256646.2	Missense_Mutation	SNP	1 : 120466323 - 120466323 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	493	52
HNRNPK	3190	broad.mit.edu	37	9	86586806	86586806	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86586806G>T	ENST00000376263.3	-	11	1167	c.944C>A	c.(943-945)cCt>cAt	p.P315H	HNRNPK_ENST00000360384.5_Missense_Mutation_p.P315H|HNRNPK_ENST00000376281.4_Missense_Mutation_p.P315H|HNRNPK_ENST00000351839.3_Missense_Mutation_p.P315H|HNRNPK_ENST00000376264.2_Missense_Mutation_p.P315H	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	315	2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1 (By similarity).|Poly-Pro.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						CCCCCCTCTAGGTGGTGGTGG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	50	47			NA	NA	9		NA											NA				86586806		2196	4290	6486	SO:0001583	missense				CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119	3190	3190			5044	protein-coding gene	gene with protein product	transformation upregulated nuclear protein	600712		HNRPK	NA	8107114	Standard		NM_031263	NA	Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376263.3:c.944C>A	9.37:g.86586806G>T	ENSP00000365439:p.Pro315His	NA	Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	37	CCDS6668.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.492840	0.44352	.	.	ENSG00000165119	ENST00000376281;ENST00000376264;ENST00000376263;ENST00000376268;ENST00000351839;ENST00000435158;ENST00000360384;ENST00000376258;ENST00000457156;ENST00000376256	T;T;T;T;T	0.50813	0.73;0.77;0.73;0.77;0.77	5.31	5.31	0.75309	.	0.301034	0.36555	N	0.002539	T	0.56572	0.1994	L	0.34521	1.04	0.47698	D	0.999494	D;D;D;D;P;D;D;P	0.89917	1.0;1.0;1.0;1.0;0.947;1.0;1.0;0.911	D;D;D;D;P;D;D;B	0.91635	0.997;0.997;0.998;0.999;0.584;0.999;0.999;0.379	T	0.44682	-0.9312	10	0.13470	T	0.59	-4.0566	17.5267	0.87802	0.0:0.0:1.0:0.0	.	291;280;315;310;315;291;315;315	B4DUQ1;Q5T6W5;Q5EC54;B4DFF1;P61978-2;P61978-3;P61978;Q6IBN1	.;.;.;.;.;.;HNRPK_HUMAN;.	H	315;315;315;315;315;280;315;310;291;246	ENSP00000365458:P315H;ENSP00000365440:P315H;ENSP00000365439:P315H;ENSP00000317788:P315H;ENSP00000353552:P315H	ENSP00000317788:P315H	P	-	2	0	HNRNPK	85776626	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.068000	0.71201	2.636000	0.89361	0.655000	0.94253	CCT	HNRNPK-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052855.1		-	ENST00000376263.3	Missense_Mutation	SNP	9 : 86586806 - 86586806 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	571	104
GXYLT1	283464	broad.mit.edu	37	12	42499768	42499768	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:42499768G>A	ENST00000398675.3	-	5	948	c.716C>T	c.(715-717)aCa>aTa	p.T239I	GXYLT1_ENST00000280876.6_Missense_Mutation_p.T208I	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	239					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						AGCAATTTGTGTGGAATTAAA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	87	89			NA	NA	12		NA											NA				42499768		1854	4102	5956	SO:0001583	missense			BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233	283464	283464		Glycosyltransferase family 8 domain containing	27482	protein-coding gene	gene with protein product		613321	glycosyltransferase 8 domain containing 3	GLT8D3	NA	19940119	Standard	XM_290597	NM_001099650	NA	Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.716C>T	12.37:g.42499768G>A	ENSP00000381666:p.Thr239Ile	NA	B3KWJ2|Q8IXV1|Q96BH4	37	CCDS41772.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655056	0.88056	.	.	ENSG00000151233	ENST00000398675;ENST00000280876	T;T	0.39787	1.06;1.06	6.07	6.07	0.98685	.	0.090831	0.85682	D	0.000000	T	0.61489	0.2351	M	0.78916	2.43	0.58432	D	0.999994	P;P	0.49090	0.9;0.919	P;P	0.52598	0.578;0.703	T	0.61322	-0.7086	10	0.54805	T	0.06	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	208;239	Q4G148-2;Q4G148	.;GXLT1_HUMAN	I	239;208	ENSP00000381666:T239I;ENSP00000280876:T208I	ENSP00000280876:T208I	T	-	2	0	GXYLT1	40786035	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.533000	0.67160	2.885000	0.99019	0.655000	0.94253	ACA	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403778.1		-	ENST00000398675.3	Missense_Mutation	SNP	12 : 42499768 - 42499768 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	393	88
GRK6	2870	broad.mit.edu	37	5	176860543	176860543	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176860543G>A	ENST00000393576.3	+	8	656	c.604G>A	c.(604-606)Gcc>Acc	p.A202T	GRK6_ENST00000355958.5_Missense_Mutation_p.A202T|GRK6_ENST00000528793.1_Missense_Mutation_p.A202T|GRK6_ENST00000507633.1_Missense_Mutation_p.A202T|GRK6_ENST00000355472.5_Missense_Mutation_p.A202T			P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	202	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGGTGTGCGCCTGCCAGGT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	59	59			NA	NA	5		NA											NA				176860543		2203	4300	6503	SO:0001583	missense				CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055	2870	2870			4545	protein-coding gene	gene with protein product		600869		GPRK6	NA	8415712	Standard	NM_002082	NM_002082	NA	Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000393576.3:c.604G>A	5.37:g.176860543G>A	ENSP00000377204:p.Ala202Thr	NA	O60541|Q13652	37		.	.	.	.	.	.	.	.	.	.	G	35	5.422879	0.96111	.	.	ENSG00000198055	ENST00000506296;ENST00000355472;ENST00000507633;ENST00000393576;ENST00000355958;ENST00000528793	T;T;T;T;T;T	0.24723	3.14;1.84;1.84;1.84;1.84;1.84	5.77	5.77	0.91146	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.43233	0.1238	L	0.31578	0.945	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.996;0.992;0.992;0.997	T	0.32719	-0.9896	10	0.87932	D	0	-21.2385	19.9983	0.97395	0.0:0.0:1.0:0.0	.	202;172;202;202	P43250;B3KPS5;P43250-2;D6RHX8	GRK6_HUMAN;.;.;.	T	170;202;202;202;202;202	ENSP00000421055:A170T;ENSP00000347655:A202T;ENSP00000427581:A202T;ENSP00000377204:A202T;ENSP00000348230:A202T;ENSP00000433511:A202T	ENSP00000347655:A202T	A	+	1	0	GRK6	176793149	1.000000	0.71417	0.965000	0.40720	0.954000	0.61252	9.807000	0.99171	2.724000	0.93272	0.561000	0.74099	GCC	GRK6-011	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000387002.1		+	ENST00000393576.3	Missense_Mutation	SNP	5 : 176860543 - 176860543 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	506	170
HIVEP1	3096	broad.mit.edu	37	6	12125318	12125318	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:12125318C>T	ENST00000379388.2	+	4	5622	c.5290C>T	c.(5290-5292)Cgg>Tgg	p.R1764W		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1764					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCACCAGAAGCGGGCCAAAGA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	90	90			NA	NA	6		NA											NA				12125318		1862	4108	5970	SO:0001583	missense			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951	3096	3096		Zinc fingers, C2H2-type	4920	protein-coding gene	gene with protein product		194540	human immunodeficiency virus type I enhancer-binding protein 1, zinc finger protein 40	ZNF40	NA	2037300	Standard	NM_002114	XR_241895	NA	Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.5290C>T	6.37:g.12125318C>T	ENSP00000368698:p.Arg1764Trp	NA	B2RTU3|Q14122|Q5MPB1|Q5VW60	37	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244506	0.79912	.	.	ENSG00000095951	ENST00000379388	T	0.51071	0.72	5.62	2.69	0.31865	.	0.000000	0.29106	N	0.013133	T	0.64000	0.2559	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72117	-0.4387	9	.	.	.	-24.794	14.6652	0.68901	0.3799:0.6201:0.0:0.0	.	1764	P15822	ZEP1_HUMAN	W	1764	ENSP00000368698:R1764W	.	R	+	1	2	HIVEP1	12233304	1.000000	0.71417	0.937000	0.37676	0.998000	0.95712	3.293000	0.51779	0.673000	0.31224	0.655000	0.94253	CGG	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039870.2		+	ENST00000379388.2	Missense_Mutation	SNP	6 : 12125318 - 12125318 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	621	111
KIF26B	55083	broad.mit.edu	37	1	245850356	245850356	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245850356C>T	ENST00000366518.4	+	9	3032	c.2928C>T	c.(2926-2928)atC>atT	p.I976I	KIF26B_ENST00000407071.2_Silent_p.I1357I			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1357					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CAGCCCCCATCAAAGGCTGCA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	64	62			NA	NA	1		NA											NA				245850356		2054	4196	6250	SO:0001819	synonymous_variant			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849	55083	55083		Kinesins	25484	protein-coding gene	gene with protein product		614026			NA		Standard	XM_371354	NM_018012	NA	Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000366518.4:c.2928C>T	1.37:g.245850356C>T		NA	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	37																																																																																				KIF26B-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000096658.2		+	ENST00000366518.4	Silent	SNP	1 : 245850356 - 245850356 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	148	32
HRASLS	57110	broad.mit.edu	37	3	192973503	192973503	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:192973503G>A	ENST00000264735.2	+	2	473	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	HRASLS_ENST00000602513.1_Missense_Mutation_p.E22K	NM_020386.4	NP_065119.2	Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	22										breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		GGACTTGATCGAAGTGTTCCG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													185	171	176			NA	NA	3		NA											NA				192973503		2203	4300	6503	SO:0001583	missense			AB030816	CCDS3303.1, CCDS3303.2	3q29	2008-05-15			ENSG00000127252	ENSG00000127252	57110	57110			14922	protein-coding gene	gene with protein product		606487			NA		Standard		NM_020386	NA	Approved	H-REV107, HRASLS1	uc003fta.4	Q9HDD0	OTTHUMG00000156104	ENST00000264735.2:c.379G>A	3.37:g.192973503G>A	ENSP00000264735:p.Glu127Lys	NA		37	CCDS3303.2	.	.	.	.	.	.	.	.	.	.	G	34	5.302243	0.95601	.	.	ENSG00000127252	ENST00000264735	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.84279	0.5437	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85977	0.1480	9	0.87932	D	0	-1.7689	18.5869	0.91192	0.0:0.0:1.0:0.0	.	22	Q9HDD0	HRSL1_HUMAN	K	22	.	ENSP00000264735:E22K	E	+	1	0	HRASLS	194456197	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	8.963000	0.93385	2.868000	0.98415	0.557000	0.71058	GAA	HRASLS-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343020.2		+	ENST00000264735.2	Missense_Mutation	SNP	3 : 192973503 - 192973503 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	861	149
MTHFD2	10797	broad.mit.edu	37	2	74435776	74435776	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74435776C>T	ENST00000394053.2	+	4	570	c.490C>T	c.(490-492)Cga>Tga	p.R164*	MTHFD2_ENST00000264090.4_Nonsense_Mutation_p.R62*|MTHFD2_ENST00000409601.1_Nonsense_Mutation_p.R123*|MTHFD2_ENST00000409804.1_Intron|MTHFD2_ENST00000394050.3_5'UTR|MTHFD2_ENST00000477455.1_3'UTR	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	164					folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					NADH(DB00157)|Tetrahydrofolic acid(DB00116)	TAATGTAGGACGAATGTGTTT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													296	269	278			NA	NA	2		NA											NA				74435776		1950	4161	6111	SO:0001587	stop_gained			X16396	CCDS1935.2	2p13.1	2008-05-02			ENSG00000065911	ENSG00000065911	10797	10797			7434	protein-coding gene	gene with protein product		604887			NA	2587219, 8218174	Standard		NR_027405	NA	Approved		uc002skk.3	P13995	OTTHUMG00000129814	ENST00000394053.2:c.490C>T	2.37:g.74435776C>T	ENSP00000377617:p.Arg164*	NA	Q53G90|Q53GV5|Q53S36	37	CCDS1935.2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402043	0.83120	.	.	ENSG00000065911	ENST00000394053;ENST00000264090;ENST00000409601	.	.	.	5.3	4.41	0.53225	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9483	0.47315	0.3401:0.6599:0.0:0.0	.	.	.	.	X	164;62;123	.	ENSP00000264090:R62X	R	+	1	2	MTHFD2	74289284	0.942000	0.31987	0.935000	0.37517	0.914000	0.54420	1.619000	0.36965	1.200000	0.43188	0.650000	0.86243	CGA	MTHFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252045.2		+	ENST00000394053.2	Nonsense_Mutation	SNP	2 : 74435776 - 74435776 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1240	336
NGF	4803	broad.mit.edu	37	1	115829359	115829359	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115829359G>A	ENST00000369512.2	-	3	226	c.58C>T	c.(58-60)Cca>Tca	p.P20S	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	20					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TCTGAGTGTGGTTCCGCCTGT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	101	109			NA	NA	1		NA											NA				115829359		2203	4300	6503	SO:0001583	missense				CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259	4803	4803		Endogenous ligands	7808	protein-coding gene	gene with protein product		162030		NGFB	NA		Standard	NM_002506	XM_006710663	NA	Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.58C>T	1.37:g.115829359G>A	ENSP00000358525:p.Pro20Ser	NA	A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	37	CCDS882.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121881	0.56613	.	.	ENSG00000134259	ENST00000369512	T	0.64085	-0.08	5.36	2.37	0.29283	.	0.115420	0.64402	D	0.000017	T	0.39279	0.1072	L	0.56280	1.765	0.42726	D	0.993697	B	0.10296	0.003	B	0.11329	0.006	T	0.43393	-0.9394	10	0.59425	D	0.04	-2.5373	10.2581	0.43410	0.0725:0.2513:0.6762:0.0	.	20	P01138	NGF_HUMAN	S	20	ENSP00000358525:P20S	ENSP00000358525:P20S	P	-	1	0	NGF	115630882	1.000000	0.71417	0.882000	0.34594	0.722000	0.41435	3.015000	0.49599	0.614000	0.30107	0.467000	0.42956	CCA	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032832.1		-	ENST00000369512.2	Missense_Mutation	SNP	1 : 115829359 - 115829359 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	417	51
PEX5	5830	broad.mit.edu	37	12	7361053	7361053	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7361053G>T	ENST00000266563.5	+	12	1254	c.1071G>T	c.(1069-1071)agG>agT	p.R357S	PEX5_ENST00000455147.2_Splice_Site_p.R394S|PEX5_ENST00000420616.2_Splice_Site_p.R394S|PEX5_ENST00000412720.2_Splice_Site_p.R415S|PEX5_ENST00000434354.2_Splice_Site_p.R409S|PEX5_ENST00000266564.3_Splice_Site_p.R386S	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	394					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GATCAAACAGGTGTCTGGAGC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	34	36			NA	NA	12		NA											NA				7361053		2203	4300	6503	SO:0001630	splice_region_variant			U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197	5830	5830		Tetratricopeptide (TTC) repeat domain containing	9719	protein-coding gene	gene with protein product		600414	peroxisome receptor 1	PXR1	NA		Standard	NM_000319	NM_000319	NA	Approved	PTS1R	uc010sgc.2	P50542		ENST00000266563.5:c.1071-1G>T	12.37:g.7361053G>T		NA	A8K891|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	37	CCDS44824.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078261	0.55753	.	.	ENSG00000139197	ENST00000455147;ENST00000266563;ENST00000434354;ENST00000420616;ENST00000412720;ENST00000396637;ENST00000266564	T;T;T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21;0.21;0.21	5.31	3.46	0.39613	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.048768	0.85682	D	0.000000	T	0.71626	0.3362	M	0.88979	2.995	0.58432	D	0.999998	P;B;P;B;D	0.67145	0.739;0.341;0.914;0.389;0.996	B;B;P;B;P	0.54140	0.299;0.163;0.729;0.193;0.743	T	0.77319	-0.2632	9	.	.	.	.	11.6969	0.51548	0.1455:0.0:0.8545:0.0	.	415;409;394;386;357	B4E0T2;B4DZ45;P50542;P50542-3;P50542-2	.;.;PEX5_HUMAN;.;.	S	394;357;409;394;415;364;386	ENSP00000400647:R394S;ENSP00000266563:R357S;ENSP00000407401:R409S;ENSP00000410159:R394S;ENSP00000391601:R415S;ENSP00000379877:R364S;ENSP00000266564:R386S	.	R	+	3	2	PEX5	7252320	1.000000	0.71417	0.999000	0.59377	0.936000	0.57629	3.295000	0.51794	1.233000	0.43693	0.591000	0.81541	AGG	PEX5-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398612.2	Missense_Mutation	+	ENST00000266563.5	Splice_Site	SNP	12 : 7361053 - 7361053 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	161	29
ZNF445	353274	broad.mit.edu	37	3	44488939	44488939	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44488939A>G	ENST00000396077.2	-	8	2571	c.2224T>C	c.(2224-2226)Tct>Cct	p.S742P	ZNF445_ENST00000425708.2_Missense_Mutation_p.S742P	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	742					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TGACTAAAAGATGGCCCGCCC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	96	95			NA	NA	3		NA											NA				44488939		2203	4300	6503	SO:0001583	missense			AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219	353274	353274		Zinc fingers, C2H2-type, -, -, -	21018	protein-coding gene	gene with protein product			zinc finger protein 168	ZNF168	NA	7814019	Standard	NM_181489	NM_181489	NA	Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.2224T>C	3.37:g.44488939A>G	ENSP00000379387:p.Ser742Pro	NA	Q3MJD1	37	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	a	6.331	0.429117	0.11987	.	.	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.07114	3.22;3.22	3.49	-1.7	0.08159	.	0.978073	0.08342	N	0.960721	T	0.03871	0.0109	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.002;0.006	B;B	0.04013	0.001;0.001	T	0.42275	-0.9461	10	0.54805	T	0.06	.	4.0757	0.09902	0.5766:0.0:0.2754:0.148	.	730;742	B7ZKX2;P59923	.;ZN445_HUMAN	P	742	ENSP00000413073:S742P;ENSP00000379387:S742P	ENSP00000379387:S742P	S	-	1	0	ZNF445	44463943	0.000000	0.05858	0.000000	0.03702	0.405000	0.30901	-1.272000	0.02826	-0.315000	0.08703	0.255000	0.18592	TCT	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256647.2		-	ENST00000396077.2	Missense_Mutation	SNP	3 : 44488939 - 44488939 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	546	63
EIF3D	8664	broad.mit.edu	37	22	36912757	36912757	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36912757C>T	ENST00000216190.8	-	11	1441	c.1071G>A	c.(1069-1071)gcG>gcA	p.A357A	EIF3D_ENST00000405442.1_Silent_p.A357A|EIF3D_ENST00000541106.1_Silent_p.A308A	NM_003753.3	NP_003744.1	O15371	EIF3D_HUMAN	eukaryotic translation initiation factor 3, subunit D	357						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						CCTACCGGTACGCAACAGAGG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													212	192	199			NA	NA	22		NA											NA				36912757		2203	4300	6503	SO:0001819	synonymous_variant			U54558	CCDS13930.1	22q13.1	2007-07-27	2007-07-27	2007-07-27	ENSG00000100353	ENSG00000100353	8664	8664			3278	protein-coding gene	gene with protein product		603915	eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa	EIF3S7	NA	9341143	Standard		NM_003753	NA	Approved	eIF3-p66, eIF3-zeta, eIF3d	uc003apr.3	O15371	OTTHUMG00000150599	ENST00000216190.8:c.1071G>A	22.37:g.36912757C>T		NA	B2R7D4|Q3MJD9|Q5M9Q6	37	CCDS13930.1																																																																																			EIF3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319026.1		-	ENST00000216190.8	Silent	SNP	22 : 36912757 - 36912757 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	975	170
DDX60L	91351	broad.mit.edu	37	4	169312748	169312748	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169312748G>A	ENST00000511577.1	-	29	4105	c.3858C>T	c.(3856-3858)tgC>tgT	p.C1286C	DDX60L_ENST00000505890.1_Silent_p.C1287C|DDX60L_ENST00000260184.7_Silent_p.C1286C			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1286	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CAACAGATTTGCATGGCATGT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	84	85			NA	NA	4		NA											NA				169312748		1945	4195	6140	SO:0001819	synonymous_variant			AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381	91351	91351			26429	protein-coding gene	gene with protein product					NA		Standard	NM_001012967	XM_005263341	NA	Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.3858C>T	4.37:g.169312748G>A		NA	Q96ND6	37		.	.	.	.	.	.	.	.	.	.	G	7.532	0.658798	0.14645	.	.	ENSG00000181381	ENST00000514580	.	.	.	3.61	1.13	0.20643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.8765	0.24149	0.6716:0.0:0.3284:0.0	.	.	.	.	X	174	.	.	Q	-	1	0	DDX60L	169549323	1.000000	0.71417	0.997000	0.53966	0.863000	0.49368	1.312000	0.33574	0.273000	0.22049	-0.373000	0.07131	CAA	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000364839.1		-	ENST00000511577.1	Silent	SNP	4 : 169312748 - 169312748 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	92	13
ZNF793	390927	broad.mit.edu	37	19	38028593	38028593	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38028593G>A	ENST00000588578.1	+	0	1951				ZNF793_ENST00000542455.1_Missense_Mutation_p.G345R|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000445217.1_Missense_Mutation_p.G345R|ZNF793_ENST00000587143.1_Missense_Mutation_p.G345R			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGAGAATGTGGAAAATCCTT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(44;400 1431 1499 19093)							NA				0													90	100	96			NA	NA	19		NA											NA				38028593		2161	4286	6447	SO:0001624	3_prime_UTR_variant			AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227	390927	390927		Zinc fingers, C2H2-type, -	33115	protein-coding gene	gene with protein product					NA		Standard	NM_001013659	NM_001013659	NA	Approved		uc010efm.3	Q6ZN11		ENST00000588578.1:c.*1183G>A	19.37:g.38028593G>A		NA	Q7Z3Q9	37		.	.	.	.	.	.	.	.	.	.	G	24.4	4.522078	0.85600	.	.	ENSG00000188227	ENST00000542455;ENST00000418827;ENST00000445217;ENST00000322299	T;T	0.58506	0.33;0.33	4.13	4.13	0.48395	.	0.000000	0.36703	N	0.002453	T	0.75155	0.3811	M	0.75264	2.295	0.41158	D	0.986073	D	0.89917	1.0	D	0.87578	0.998	T	0.79619	-0.1728	10	0.72032	D	0.01	.	15.6579	0.77158	0.0:0.0:1.0:0.0	.	345	E9PGN4	.	R	345;345;345;344	ENSP00000444355:G345R;ENSP00000396402:G345R	ENSP00000318811:G344R	G	+	1	0	ZNF793	42720433	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.656000	0.61483	2.276000	0.75962	0.650000	0.86243	GGA	ZNF793-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000458623.1		+	ENST00000588578.1	3'UTR	SNP	19 : 38028593 - 38028593 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	186	34
RTTN	25914	broad.mit.edu	37	18	67863822	67863822	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:67863822C>T	ENST00000255674.6	-	7	1042	c.756G>A	c.(754-756)tcG>tcA	p.S252S	RTTN_ENST00000437017.1_Silent_p.S252S|RTTN_ENST00000454359.1_Silent_p.S252S	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	252							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GGCAGGACACCGACTGTAATG	0.418		NA											T	1	5e-04	NA	NA	2184	0.0017	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9181	LOWCOV,EXOME	NA	NA	9e-04	SNP								NA				0								T		1,3775		0,1,1887	83	81	82		756	-6	0.8	18		82	0,8244		0,0,4122	no	coding-synonymous	RTTN	NM_173630.3		0,1,6009	TT,TC,CC	NA	0.0,0.0265,0.0083		252/2227	67863822	1,12019	1888	4122	6010	SO:0001819	synonymous_variant			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225	25914	25914			18654	protein-coding gene	gene with protein product		610436			NA	11900971	Standard	NM_173630	NM_173630	NA	Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.756G>A	18.37:g.67863822C>T		NA	Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	37	CCDS42443.1																																																																																			RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442988.1		-	ENST00000255674.6	Silent	SNP	18 : 67863822 - 67863822 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	335	48
PLEKHH2	130271	broad.mit.edu	37	2	43953531	43953531	+	Missense_Mutation	SNP	G	G	A	rs146823531		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43953531G>A	ENST00000282406.4	+	17	2772	c.2662G>A	c.(2662-2664)Gtt>Att	p.V888I		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	888	PH 2.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTATACTATCGTTATCCATCC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ILE/VAL	0,4406		0,0,2203	115	109	111		2662	4.7	0	2	dbSNP_134	111	2,8598	1.2+/-3.3	0,2,4298	no	missense	PLEKHH2	NM_172069.3	29	0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154	benign	888/1494	43953531	2,13004	2203	4300	6503	SO:0001583	missense			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527	130271	130271		Pleckstrin homology (PH) domain containing	30506	protein-coding gene	gene with protein product		612723			NA		Standard	NM_172069	NM_172069	NA	Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.2662G>A	2.37:g.43953531G>A	ENSP00000282406:p.Val888Ile	NA	Q5JPJ6|Q6P4Q1|Q8N3Q3	37	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764779	0.31228	0.0	2.33E-4	ENSG00000152527	ENST00000282406	T	0.22539	1.95	5.57	4.68	0.58851	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.253763	0.38959	N	0.001506	T	0.22551	0.0544	L	0.53617	1.68	0.21802	N	0.99954	B;B	0.19935	0.04;0.017	B;B	0.20184	0.028;0.004	T	0.11817	-1.0572	10	0.38643	T	0.18	-6.5994	13.539	0.61662	0.0757:0.0:0.9243:0.0	.	888;325	Q8IVE3;Q8IVE3-2	PKHH2_HUMAN;.	I	888	ENSP00000282406:V888I	ENSP00000282406:V888I	V	+	1	0	PLEKHH2	43807035	0.998000	0.40836	0.020000	0.16555	0.472000	0.32918	4.963000	0.63694	1.307000	0.44944	0.650000	0.86243	GTT	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250537.1		+	ENST00000282406.4	Missense_Mutation	SNP	2 : 43953531 - 43953531 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	422	82
ERAL1	26284	broad.mit.edu	37	17	27185169	27185169	+	Missense_Mutation	SNP	A	A	G	rs139024598	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27185169A>G	ENST00000254928.5	+	5	639	c.542A>G	c.(541-543)cAc>cGc	p.H181R	ERAL1_ENST00000578001.1_3'UTR	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	181	G.				ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			CTCAGGCATCACCTGGAGCTC	0.478		NA											A	4	0.0018	0.01	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0019	0.9882	LOWCOV,EXOME	NA	NA	2e-04	SNP								NA				0								A	ARG/HIS	22,4384	29.0+/-57.7	0,22,2181	109	106	107		542	5.8	1	17	dbSNP_134	107	0,8600		0,0,4300	yes	missense	ERAL1	NM_005702.2	29	0,22,6481	GG,GA,AA	NA	0.0,0.4993,0.1692	benign	181/438	27185169	22,12984	2203	4300	6503	SO:0001583	missense			AF082657	CCDS11244.1	17q11.2	2013-05-22	2013-05-22		ENSG00000132591	ENSG00000132591	26284	26284			3424	protein-coding gene	gene with protein product		607435	Era (E. coli G-protein homolog)-like 1, Era G-protein-like 1 (E. coli)		NA	10945472, 20604745	Standard		NM_005702	NA	Approved	HERA-B	uc002hcy.1	O75616	OTTHUMG00000132675	ENST00000254928.5:c.542A>G	17.37:g.27185169A>G	ENSP00000254928:p.His181Arg	NA	B3KN21|C9JEC6|O75617|Q8WUY4|Q96LE2|Q96TC0	37	CCDS11244.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	A	12.25	1.880780	0.33255	0.004993	0.0	ENSG00000132591	ENST00000254928;ENST00000412138	D	0.95272	-3.66	5.8	5.8	0.92144	Small GTP-binding protein domain (1);GTP-binding domain, HSR1-related (1);	0.533866	0.24014	N	0.042344	D	0.83617	0.5293	N	0.11131	0.1	0.43267	D	0.99521	B	0.32128	0.357	B	0.34590	0.186	D	0.84150	0.0422	10	0.07325	T	0.83	-4.852	14.9742	0.71257	1.0:0.0:0.0:0.0	.	181	O75616	ERAL1_HUMAN	R	181;121	ENSP00000254928:H181R	ENSP00000254928:H181R	H	+	2	0	ERAL1	24209295	0.998000	0.40836	1.000000	0.80357	0.916000	0.54674	7.566000	0.82347	2.224000	0.72417	0.533000	0.62120	CAC	ERAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255937.2		+	ENST00000254928.5	Missense_Mutation	SNP	17 : 27185169 - 27185169 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	419	63
KCNIP3	30818	broad.mit.edu	37	2	96040138	96040138	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96040138G>A	ENST00000295225.5	+	3	411	c.276G>A	c.(274-276)gaG>gaA	p.E92E	KCNIP3_ENST00000377181.2_3'UTR|KCNIP3_ENST00000468529.1_Silent_p.E66E|KCNIP3_ENST00000360990.3_Silent_p.E92E	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	92	EF-hand 1; degenerate.				apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		CCAAGAAGGAGCTGCAGTCTC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	85	85			NA	NA	2		NA											NA				96040138		2203	4300	6503	SO:0001819	synonymous_variant			AF199599	CCDS2013.1, CCDS33245.1	2q21.1	2013-01-10	2006-02-11	2006-02-11	ENSG00000115041	ENSG00000115041	30818	30818		EF-hand domain containing	15523	protein-coding gene	gene with protein product		604662	calsenilin, presenilin-binding protein, EF hand transcription factor	CSEN	NA	9771752, 10078534	Standard	NM_013434	NM_013434	NA	Approved	DREAM, KCHIP3, calsenilin	uc002sup.3	Q9Y2W7	OTTHUMG00000130392	ENST00000295225.5:c.276G>A	2.37:g.96040138G>A		NA	Q3YAC3|Q53TJ5|Q96T40|Q9UJ84|Q9UJ85	37	CCDS2013.1																																																																																			KCNIP3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252770.1		+	ENST00000295225.5	Silent	SNP	2 : 96040138 - 96040138 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	66
TULP4	56995	broad.mit.edu	37	6	158900854	158900854	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158900854C>T	ENST00000367097.3	+	7	2455	c.1098C>T	c.(1096-1098)taC>taT	p.Y366Y	TULP4_ENST00000367094.2_Silent_p.Y366Y	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	366	SOCS box.				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CAGCCCTGTACGTGGTGCGTG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	78	83			NA	NA	6		NA											NA				158900854		2203	4300	6503	SO:0001819	synonymous_variant				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338	56995	56995		WD repeat domain containing	15530	protein-coding gene	gene with protein product					NA	11595174	Standard	NM_020245	NM_020245	NA	Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1098C>T	6.37:g.158900854C>T		NA	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	37	CCDS34561.1																																																																																			TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042869.1		+	ENST00000367097.3	Silent	SNP	6 : 158900854 - 158900854 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	437	76
OR10C1	442194	broad.mit.edu	37	6	29408493	29408493	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29408493G>A	ENST00000444197.2	+	1	1411	c.701G>A	c.(700-702)cGc>cAc	p.R234H	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCGGGCCGCCGCAAGGCCTTC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													237	264	254			NA	NA	6		NA											NA				29408493		1511	2709	4220	SO:0001583	missense				CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474	442194	442194		GPCR / Class A : Olfactory receptors	8165	protein-coding gene	gene with protein product			olfactory receptor, family 10, subfamily C, member 2, olfactory receptor, family 10, subfamily C, member 1	OR10C2	NA		Standard		NM_013941	NA	Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.701G>A	6.37:g.29408493G>A	ENSP00000419119:p.Arg234His	NA	Q5SUN7|Q96R18	37	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.683637	0.00745	.	.	ENSG00000206474	ENST00000444197	T	0.00034	8.87	3.49	-0.841	0.10752	GPCR, rhodopsin-like superfamily (1);	0.381454	0.19248	N	0.119008	T	0.00012	0.0000	N	0.11927	0.2	0.09310	N	0.999999	B	0.10296	0.003	B	0.16289	0.015	T	0.37174	-0.9717	10	0.10111	T	0.7	.	4.6493	0.12587	0.4259:0.0:0.429:0.1451	.	234	Q96KK4	O10C1_HUMAN	H	234	ENSP00000419119:R234H	ENSP00000419119:R234H	R	+	2	0	OR10C1	29516472	0.000000	0.05858	0.049000	0.19019	0.015000	0.08874	-1.504000	0.02275	-0.486000	0.06744	-0.332000	0.08345	CGC	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076415.2		+	ENST00000444197.2	Missense_Mutation	SNP	6 : 29408493 - 29408493 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1598	69
NPR2	4882	broad.mit.edu	37	9	35792966	35792966	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35792966C>A	ENST00000342694.2	+	1	816	c.561C>A	c.(559-561)gtC>gtA	p.V187V		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	187					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TCGAGGGCGTCTTTGAGGCCC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	62	63			NA	NA	9		NA											NA				35792966		2203	4300	6503	SO:0001819	synonymous_variant			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899	4882	4882			7944	protein-coding gene	gene with protein product	guanylate cyclase B	108961	acromesomelic dysplasia, Maroteaux type, atrionatriuretic peptide receptor B, natriuretic peptide receptor B	ANPRB, NPRB, AMDM	NA	9634515, 15146390	Standard		XM_005251478	NA	Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.561C>A	9.37:g.35792966C>A		NA	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	37	CCDS6590.1																																																																																			NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052345.1		+	ENST00000342694.2	Silent	SNP	9 : 35792966 - 35792966 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	479	24
RICTOR	253260	broad.mit.edu	37	5	38950285	38950285	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38950285G>A	ENST00000357387.3	-	31	3695	c.3665C>T	c.(3664-3666)aCa>aTa	p.T1222I	RICTOR_ENST00000296782.5_Missense_Mutation_p.T1222I	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1222					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TGTAGTGTCTGTATTGAAACT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													238	224	229			NA	NA	5		NA											NA				38950285		2203	4298	6501	SO:0001583	missense				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327	253260	253260			28611	protein-coding gene	gene with protein product	rapamycin-insensitive companion of mTOR, pianissimo	609022			NA	12477932	Standard	NM_152756	XM_005248278	NA	Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.3665C>T	5.37:g.38950285G>A	ENSP00000349959:p.Thr1222Ile	NA	B2RNX0|B7ZMF7|Q68DT5|Q86UB7|Q8N3A0|Q8NCM6	37	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034996	0.75617	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.66460	0.41;-0.21	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.82572	0.5066	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.82659	-0.0348	10	0.87932	D	0	-17.4192	20.5632	0.99335	0.0:0.0:1.0:0.0	.	1222;1222	Q6R327;Q6R327-3	RICTR_HUMAN;.	I	1222	ENSP00000349959:T1222I;ENSP00000296782:T1222I	ENSP00000296782:T1222I	T	-	2	0	RICTOR	38986042	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.132000	0.94455	2.937000	0.99478	0.650000	0.86243	ACA	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366985.1		-	ENST00000357387.3	Missense_Mutation	SNP	5 : 38950285 - 38950285 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1334	260
LRP2	4036	broad.mit.edu	37	2	170027155	170027155	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170027155G>A	ENST00000263816.3	-	59	11571	c.11286C>T	c.(11284-11286)agC>agT	p.S3762S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3762	LDL-receptor class A 32.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATCGAAACTCGCTCTCTGTGC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	118	126			NA	NA	2		NA											NA				170027155		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479	4036	4036		Low density lipoprotein receptors	6694	protein-coding gene	gene with protein product	megalin	600073			NA	7959795	Standard	NM_004525	NM_004525	NA	Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11286C>T	2.37:g.170027155G>A		NA	O00711|Q16215	37	CCDS2232.1																																																																																			LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255231.2		-	ENST00000263816.3	Silent	SNP	2 : 170027155 - 170027155 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	560	154
DNAH17	8632	broad.mit.edu	37	17	76496430	76496430	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76496430G>A	ENST00000585328.1	-	36	5706	c.5582C>T	c.(5581-5583)aCc>aTc	p.T1861I	DNAH17-AS1_ENST00000598378.1_Missense_Mutation_p.G121D|DNAH17_ENST00000389840.5_Missense_Mutation_p.T1852I	NM_173628.3	NP_775899.3			dynein, axonemal, heavy chain 17	NA										NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GTAGACCATGGTGCCCAGGGC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	31	30			NA	NA	17		NA											NA				76496430		2003	4199	6202	SO:0001583	missense			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775	8632	8632		Axonemal dyneins	2946	protein-coding gene	gene with protein product		610063	dynein, axonemal, heavy polypeptide 17, dynein, axonemal, heavy chain like 1, dynein, axonemal, heavy like 1	DNAHL1	NA	9545504	Standard	NM_173628	NM_173628	NA	Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.5582C>T	17.37:g.76496430G>A	ENSP00000465516:p.Thr1861Ile	NA		37		.	.	.	.	.	.	.	.	.	.	G	4.354	0.065090	0.08388	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.07444	3.19	4.07	2.04	0.26737	.	.	.	.	.	T	0.01287	0.0042	N	0.00113	-2.09	0.31028	N	0.717726	.	.	.	.	.	.	T	0.42310	-0.9459	7	0.02654	T	1	.	4.5718	0.12214	0.4621:0.0:0.5378:0.0	.	.	.	.	I	1861;1852	ENSP00000374490:T1852I	ENSP00000300671:T1861I	T	-	2	0	DNAH17	74008025	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.270000	0.58896	1.055000	0.40461	0.448000	0.29417	ACC	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000318962.2		-	ENST00000585328.1	Missense_Mutation	SNP	17 : 76496430 - 76496430 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	111	29
ACO1	48	broad.mit.edu	37	9	32418495	32418495	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32418495G>A	ENST00000309951.6	+	6	782	c.644G>A	c.(643-645)gGc>gAc	p.G215D	ACO1_ENST00000541043.1_Missense_Mutation_p.G116D|ACO1_ENST00000379923.1_Missense_Mutation_p.G215D	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	NA					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		GATGGCTTGGGCATTCTTGGT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													177	162	167			NA	NA	9		NA											NA				32418495		2203	4300	6503	SO:0001583	missense			M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	48	48	4.2.1.3		117	protein-coding gene	gene with protein product	aconitate hydratase, cytoplasmic	100880		IREB1	NA	2172968, 2771641	Standard	NM_002197	NM_002197	NA	Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.644G>A	9.37:g.32418495G>A	ENSP00000309477:p.Gly215Asp	NA	D3DRK7|Q14652|Q5VZA7	37	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966788	0.92855	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000379921;ENST00000541043	T;T;T	0.61274	0.12;0.12;0.12	5.79	5.79	0.91817	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (3);	0.000000	0.85682	D	0.000000	D	0.87928	0.6301	H	0.99682	4.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93025	0.6443	10	0.87932	D	0	-2.4516	18.8212	0.92097	0.0:0.0:1.0:0.0	.	251;215	Q59FI0;P21399	.;ACOC_HUMAN	D	251;215;215;215;116	ENSP00000309477:G215D;ENSP00000369255:G215D;ENSP00000438733:G116D	ENSP00000309477:G215D	G	+	2	0	ACO1	32408495	1.000000	0.71417	0.961000	0.40146	0.994000	0.84299	9.808000	0.99193	2.753000	0.94483	0.557000	0.71058	GGC	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051998.3		+	ENST00000309951.6	Missense_Mutation	SNP	9 : 32418495 - 32418495 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	734	19
SLITRK3	22865	broad.mit.edu	37	3	164906549	164906549	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164906549G>A	ENST00000475390.1	-	2	2513	c.2070C>T	c.(2068-2070)agC>agT	p.S690S	SLITRK3_ENST00000241274.3_Silent_p.S690S			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	690						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCTGCCGCTTGCTTCTGAAGG	0.562		NA								HNSCC(40;0.11)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	72	78			NA	NA	3		NA											NA				164906549		2203	4300	6503	SO:0001819	synonymous_variant			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871	22865	22865			23501	protein-coding gene	gene with protein product		609679			NA	10048485, 14557068	Standard	NM_014926	NM_014926	NA	Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2070C>T	3.37:g.164906549G>A		NA	Q1RMY6	37	CCDS3197.1																																																																																			SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350126.1		-	ENST00000475390.1	Silent	SNP	3 : 164906549 - 164906549 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	365	61
LAMA3	3909	broad.mit.edu	37	18	21496608	21496608	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21496608G>T	ENST00000313654.9	+	60	8113	c.7872G>T	c.(7870-7872)caG>caT	p.Q2624H	LAMA3_ENST00000587184.1_Missense_Mutation_p.Q959H|LAMA3_ENST00000269217.6_Missense_Mutation_p.Q1015H|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Missense_Mutation_p.Q2568H	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2624	Laminin G-like 2.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTTTGGACAGACAATTCAGA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	147	155			NA	NA	18		NA											NA				21496608		2203	4300	6503	SO:0001583	missense			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747	3909	3909		Laminins	6483	protein-coding gene	gene with protein product		600805	laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)	LAMNA	NA	8077230	Standard	NM_000227, NM_198129	NM_000227	NA	Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.7872G>T	18.37:g.21496608G>T	ENSP00000324532:p.Gln2624His	NA	Q13679|Q13680|Q6VU68|Q76E14|Q96TG0	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.391060	0.62066	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.79033	-1.23;-1.23;-1.23	5.76	2.05	0.26809	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	.	.	.	.	T	0.82121	0.4968	M	0.65975	2.015	0.37623	D	0.921377	D;D;D;D	0.71674	0.965;0.965;0.992;0.998	P;P;P;P	0.58391	0.708;0.708;0.789;0.838	T	0.82168	-0.0591	9	0.66056	D	0.02	.	9.6372	0.39817	0.3361:0.0:0.6639:0.0	.	959;1015;2568;2624	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	H	2624;2568;1015	ENSP00000324532:Q2624H;ENSP00000382432:Q2568H;ENSP00000269217:Q1015H	ENSP00000269217:Q1015H	Q	+	3	2	LAMA3	19750606	0.990000	0.36364	0.056000	0.19401	0.835000	0.47333	1.937000	0.40193	0.098000	0.17522	-0.266000	0.10368	CAG	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254824.3		+	ENST00000313654.9	Missense_Mutation	SNP	18 : 21496608 - 21496608 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	774	28
HPS3	84343	broad.mit.edu	37	3	148868428	148868428	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148868428A>G	ENST00000460120.1	+	5	797	c.711A>G	c.(709-711)gcA>gcG	p.A237A	HPS3_ENST00000296051.2_Silent_p.A402A			Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	402						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GTGCGGCGGCAGCTCGTGAGG	0.517		NA							Hermansky-Pudlak syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	113	118			NA	NA	3		NA											NA				148868428		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	HPS, HPS1-8	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755	84343	84343			15597	protein-coding gene	gene with protein product		606118			NA	11455388	Standard	NM_032383	NM_032383	NA	Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000460120.1:c.711A>G	3.37:g.148868428A>G		NA	A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	37																																																																																				HPS3-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000356153.1		+	ENST00000460120.1	Silent	SNP	3 : 148868428 - 148868428 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	410	67
ZNF530	348327	broad.mit.edu	37	19	58117676	58117676	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58117676C>T	ENST00000332854.6	+	3	1003	c.783C>T	c.(781-783)caC>caT	p.H261H	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGAAAGCACACGGTAGAACAA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	83	85			NA	NA	19		NA											NA				58117676		2203	4300	6503	SO:0001819	synonymous_variant			AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647	348327	348327		Zinc fingers, C2H2-type, -	29297	protein-coding gene	gene with protein product					NA	10819331	Standard	NM_020880	NM_020880	NA	Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.783C>T	19.37:g.58117676C>T		NA	O43340|Q9P220	37	CCDS12955.1																																																																																			ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466797.1		+	ENST00000332854.6	Silent	SNP	19 : 58117676 - 58117676 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	451	86
ACTN1	87	broad.mit.edu	37	14	69358972	69358972	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:69358972G>A	ENST00000538545.2	-	10	903	c.884C>T	c.(883-885)cCg>cTg	p.P295L	ACTN1_ENST00000376839.3_Missense_Mutation_p.P230L|ACTN1_ENST00000438964.2_Missense_Mutation_p.P295L|ACTN1_ENST00000394419.4_Missense_Mutation_p.P295L|ACTN1_ENST00000193403.6_Missense_Mutation_p.P295L			P12814	ACTN1_HUMAN	actinin, alpha 1	295	Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTCCAGCCACGGGATTGTGCG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	59	60			NA	NA	14		NA											NA				69358972		2203	4300	6503	SO:0001583	missense			M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110	87	87		EF-hand domain containing	163	protein-coding gene	gene with protein product		102575			NA	2349951	Standard	NM_001102	NM_001102	NA	Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000538545.2:c.884C>T	14.37:g.69358972G>A	ENSP00000439828:p.Pro295Leu	NA	B3V8S3|B4DHH3|Q9BTN1	37		.	.	.	.	.	.	.	.	.	.	G	33	5.224766	0.95173	.	.	ENSG00000072110	ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545;ENST00000555616	T;T;T;T;T;T	0.66995	0.75;0.75;0.75;0.75;0.75;-0.24	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.79684	0.4488	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	0.983;0.995;1.0;0.999	P;P;D;D	0.71656	0.761;0.841;0.974;0.955	T	0.82190	-0.0580	10	0.72032	D	0.01	.	17.6725	0.88222	0.0:0.0:1.0:0.0	.	295;295;295;295	B7TY16;P12814-2;Q1HE25;P12814	.;.;.;ACTN1_HUMAN	L	295;295;295;230;295;230	ENSP00000193403:P295L;ENSP00000377941:P295L;ENSP00000414272:P295L;ENSP00000366035:P230L;ENSP00000439828:P295L;ENSP00000450903:P230L	ENSP00000193403:P295L	P	-	2	0	ACTN1	68428725	1.000000	0.71417	0.967000	0.41034	0.992000	0.81027	9.641000	0.98458	2.383000	0.81215	0.643000	0.83706	CCG	ACTN1-006	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000413237.1		-	ENST00000538545.2	Missense_Mutation	SNP	14 : 69358972 - 69358972 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	525	88
SKA3	221150	broad.mit.edu	37	13	21732194	21732194	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21732194G>A	ENST00000400018.3	-	7	1055	c.986C>T	c.(985-987)tCg>tTg	p.S329L	SKA3_ENST00000314759.5_Missense_Mutation_p.S329L	NM_001166017.1	NP_001159489.1	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	329					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TAAAACCAACGAAGTACGATC	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	120	118			NA	NA	13		NA											NA				21732194		2203	4300	6503	SO:0001583	missense			AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480	221150	221150			20262	protein-coding gene	gene with protein product			chromosome 13 open reading frame 3	C13orf3	NA	19387489, 19289083, 19646878, 19360002	Standard	NM_145061	NM_145061	NA	Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000400018.3:c.986C>T	13.37:g.21732194G>A	ENSP00000382896:p.Ser329Leu	NA	A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	37	CCDS53856.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440333	0.43326	.	.	ENSG00000165480	ENST00000314759;ENST00000400018	T;T	0.28454	1.62;1.61	5.98	5.98	0.97165	.	0.247257	0.39274	N	0.001409	T	0.48537	0.1505	L	0.47716	1.5	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.65874	0.917;0.939	T	0.37753	-0.9692	10	0.49607	T	0.09	-1.2477	17.1559	0.86791	0.0:0.0:1.0:0.0	.	329;329	Q8IX90-3;Q8IX90	.;SKA3_HUMAN	L	329	ENSP00000319417:S329L;ENSP00000382896:S329L	ENSP00000319417:S329L	S	-	2	0	SKA3	20630194	0.561000	0.26578	0.010000	0.14722	0.026000	0.11368	3.939000	0.56591	2.837000	0.97791	0.591000	0.81541	TCG	SKA3-006	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000272913.1		-	ENST00000400018.3	Missense_Mutation	SNP	13 : 21732194 - 21732194 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	562	50
DOCK4	9732	broad.mit.edu	37	7	111422941	111422941	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111422941A>G	ENST00000428084.1	-	35	3836	c.3564T>C	c.(3562-3564)atT>atC	p.I1188I	DOCK4_ENST00000437633.1_Silent_p.I1179I|DOCK4_ENST00000494651.2_Silent_p.I62I			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1179	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CTGTGCAGCCAATCTTTTTGC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													182	176	178			NA	NA	7		NA											NA				111422941		1844	4085	5929	SO:0001819	synonymous_variant				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512	9732	9732			19192	protein-coding gene	gene with protein product		607679			NA	12432077, 12628187	Standard	NM_014705	XM_006716188	NA	Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000428084.1:c.3564T>C	7.37:g.111422941A>G		NA	O14584|O94824|Q8NB45	37		.	.	.	.	.	.	.	.	.	.	A	10.31	1.315908	0.23908	.	.	ENSG00000128512	ENST00000423057;ENST00000445943	.	.	.	5.42	2.95	0.34219	.	.	.	.	.	T	0.58623	0.2135	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51710	-0.8671	4	.	.	.	.	9.209	0.37306	0.8401:0.0:0.1599:0.0	.	.	.	.	S	640;1212	.	.	L	-	2	0	DOCK4	111210177	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.018000	0.40991	0.401000	0.25424	0.455000	0.32223	TTG	DOCK4-005	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000338943.2		-	ENST00000428084.1	Silent	SNP	7 : 111422941 - 111422941 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	654	97
ULK4	54986	broad.mit.edu	37	3	41746752	41746752	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41746752C>T	ENST00000301831.4	-	26	3142	c.2680G>A	c.(2680-2682)Gcc>Acc	p.A894T		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	894							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TCACCTATGGCTCCATCTATG	0.284		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	87	89			NA	NA	3		NA											NA				41746752		1811	4078	5889	SO:0001583	missense			AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038	54986	54986			15784	protein-coding gene	gene with protein product			unc-51-like kinase 4 (C. elegans)		NA	12477932	Standard	XM_929989	NM_017886	NA	Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.2680G>A	3.37:g.41746752C>T	ENSP00000301831:p.Ala894Thr	NA	A6NF15|Q8IW79|Q9NWV6|Q9UF96	37	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575882	0.86645	.	.	ENSG00000168038	ENST00000301831	T	0.64618	-0.11	5.01	5.01	0.66863	Armadillo-type fold (1);	0.180486	0.33938	U	0.004411	T	0.72558	0.3475	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.72110	-0.4389	10	0.42905	T	0.14	.	18.6636	0.91479	0.0:1.0:0.0:0.0	.	894	Q96C45	ULK4_HUMAN	T	894	ENSP00000301831:A894T	ENSP00000301831:A894T	A	-	1	0	ULK4	41721756	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.226000	0.65299	2.480000	0.83734	0.591000	0.81541	GCC	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343490.1		-	ENST00000301831.4	Missense_Mutation	SNP	3 : 41746752 - 41746752 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	360	34
MTMR14	64419	broad.mit.edu	37	3	9726291	9726291	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9726291C>T	ENST00000296003.4	+	11	1109	c.987C>T	c.(985-987)caC>caT	p.H329H	MTMR14_ENST00000351233.5_Silent_p.H329H|MTMR14_ENST00000420925.1_Silent_p.H83H|MTMR14_ENST00000353332.5_Silent_p.H329H	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	329						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					TGCTGGTACACTGTATCTCAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	132	132			NA	NA	3		NA											NA				9726291		2023	4173	6196	SO:0001819	synonymous_variant			BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719	64419	64419		Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins	26190	protein-coding gene	gene with protein product	egg-derived tyrosine phosphatase homolog (Drosophila)	611089	chromosome 3 open reading frame 29	C3orf29	NA	15186772	Standard	NM_022485	NM_022485	NA	Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.987C>T	3.37:g.9726291C>T		NA	Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	37	CCDS43043.1																																																																																			MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000338435.1		+	ENST00000296003.4	Silent	SNP	3 : 9726291 - 9726291 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	650	113
FLT4	2324	broad.mit.edu	37	5	180057602	180057602	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180057602G>A	ENST00000261937.6	-	3	431	c.353C>T	c.(352-354)gCa>gTa	p.A118V	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.A118V|FLT4_ENST00000393347.3_Missense_Mutation_p.A118V	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	118	Ig-like C2-type 1.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTCGATGCGTGCCTTGATGTA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(97;1075 1466 27033 27547 35871)							NA				0													185	142	157			NA	NA	5		NA											NA				180057602		2203	4299	6502	SO:0001583	missense			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2324	2324	2.7.10.1	Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	3767	protein-coding gene	gene with protein product		136352			NA	1319394	Standard		NM_002020	NA	Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.353C>T	5.37:g.180057602G>A	ENSP00000261937:p.Ala118Val	NA	Q16067|Q86W07	37	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591855	0.46214	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.77098	-1.07;-1.07;-1.07	4.9	4.9	0.64082	Immunoglobulin subtype (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor 3 (VEGFR3), N-terminal (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76695	0.4023	L	0.42245	1.32	0.46631	D	0.999134	P;P;P;B;B	0.51537	0.946;0.934;0.492;0.005;0.002	P;P;B;B;B	0.51701	0.636;0.677;0.184;0.021;0.014	T	0.74481	-0.3651	9	0.33141	T	0.24	.	11.9624	0.53015	0.0801:0.0:0.9199:0.0	.	118;118;118;118;118	B5A928;B5A927;P35916-3;E9PD35;P35916	.;.;.;.;VGFR3_HUMAN	V	118	ENSP00000261937:A118V;ENSP00000377016:A118V;ENSP00000426057:A118V	ENSP00000261937:A118V	A	-	2	0	FLT4	179990208	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	3.973000	0.56845	2.465000	0.83290	0.456000	0.33151	GCA	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253527.4		-	ENST00000261937.6	Missense_Mutation	SNP	5 : 180057602 - 180057602 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	242	98
AOC1	26	broad.mit.edu	37	7	150554395	150554395	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150554395G>A	ENST00000493429.1	+	4	1421	c.837G>A	c.(835-837)ccG>ccA	p.P279P	AOC1_ENST00000416793.2_Silent_p.P279P|AOC1_ENST00000360937.4_Silent_p.P279P|AOC1_ENST00000467291.1_Silent_p.P279P					amine oxidase, copper containing 1	NA											NA						CAGAGGAGCCGCCCCTCTTCT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	22	21			NA	NA	7		NA											NA				150554395		1999	4152	6151	SO:0001819	synonymous_variant			AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	26	26	1.4.3.22		80	protein-coding gene	gene with protein product	diamine oxidase	104610	amiloride binding protein 1 (amine oxidase (copper-containing))	ABP1	NA	8182053	Standard	NM_001091	NM_001091	NA	Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.837G>A	7.37:g.150554395G>A		NA		37	CCDS43679.1																																																																																			AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350628.1		+	ENST00000493429.1	Silent	SNP	7 : 150554395 - 150554395 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	130	27
AIFM3	150209	broad.mit.edu	37	22	21335305	21335305	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21335305G>A	ENST00000399167.2	+	21	2043	c.1803G>A	c.(1801-1803)acG>acA	p.T601T	AIFM3_ENST00000335375.5_Silent_p.T582T|AIFM3_ENST00000440238.2_Silent_p.T601T|AIFM3_ENST00000333607.6_Silent_p.T594T|AIFM3_ENST00000399163.2_Silent_p.T594T|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000405089.1_Silent_p.T600T|LZTR1_ENST00000479606.1_Intron	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3	NA										breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCTGGCTTACGGGGAAAGGAT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	68	72			NA	NA	22		NA											NA				21335305		2203	4300	6503	SO:0001819	synonymous_variant			AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773	150209	150209			26398	protein-coding gene	gene with protein product					NA	15764604	Standard	NM_144704	NM_144704	NA	Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.1803G>A	22.37:g.21335305G>A		NA		37	CCDS13786.1																																																																																			AIFM3-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320150.1		+	ENST00000399167.2	Silent	SNP	22 : 21335305 - 21335305 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	189	43
MRC2	9902	broad.mit.edu	37	17	60757183	60757183	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60757183G>A	ENST00000303375.5	+	14	2620	c.2218G>A	c.(2218-2220)Gag>Aag	p.E740K		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	740	C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CGAGATCCACGAGCAGCACTG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	45	48			NA	NA	17		NA											NA				60757183		2203	4300	6503	SO:0001583	missense			AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028	9902	9902		CD molecules, C-type lectin domain containing	16875	protein-coding gene	gene with protein product		612264			NA	9734811, 8702911	Standard		NM_006039	NA	Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.2218G>A	17.37:g.60757183G>A	ENSP00000307513:p.Glu740Lys	NA	A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	37	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562535	0.86335	.	.	ENSG00000011028	ENST00000303375	T	0.18960	2.18	4.46	4.46	0.54185	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.85682	D	0.000000	T	0.41858	0.1177	L	0.61036	1.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.16217	-1.0410	10	0.16420	T	0.52	-27.2539	16.9236	0.86169	0.0:0.0:1.0:0.0	.	740	Q9UBG0	MRC2_HUMAN	K	740	ENSP00000307513:E740K	ENSP00000307513:E740K	E	+	1	0	MRC2	58110915	1.000000	0.71417	0.990000	0.47175	0.362000	0.29581	7.222000	0.78025	2.310000	0.77875	0.305000	0.20034	GAG	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445152.1		+	ENST00000303375.5	Missense_Mutation	SNP	17 : 60757183 - 60757183 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	171	42
MAPK12	6300	broad.mit.edu	37	22	50695062	50695062	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50695062C>T	ENST00000215659.8	-	6	785	c.470G>A	c.(469-471)gGc>gAc	p.G157D	MAPK12_ENST00000497036.1_5'UTR|MAPK12_ENST00000395780.1_Missense_Mutation_p.G67D	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	157	Protein kinase.				cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGCCAGGTTGCCGGGCTTCAG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	81	80			NA	NA	22		NA											NA				50695062		2203	4300	6503	SO:0001583	missense			U66243	CCDS14089.1	22q13.3	2012-05-08			ENSG00000188130	ENSG00000188130	6300	6300	2.7.11.1	Mitogen-activated protein kinase cascade / Kinases	6874	protein-coding gene	gene with protein product		602399		SAPK3	NA	9169156	Standard	NM_002969	NM_002969	NA	Approved	ERK6, PRKM12, p38gamma, SAPK-3	uc003bkm.1	P53778	OTTHUMG00000030145	ENST00000215659.8:c.470G>A	22.37:g.50695062C>T	ENSP00000215659:p.Gly157Asp	NA	Q14260|Q99588|Q99672	37	CCDS14089.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370771	0.82573	.	.	ENSG00000188130	ENST00000438835;ENST00000395780;ENST00000215659	T;T	0.12879	2.64;2.64	4.3	4.3	0.51218	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.232365	0.21899	U	0.067461	T	0.20618	0.0496	N	0.13272	0.32	0.80722	D	1	D;D;D	0.60575	0.971;0.988;0.964	P;P;P	0.62885	0.908;0.889;0.851	T	0.17410	-1.0370	10	0.87932	D	0	-29.3733	16.9691	0.86294	0.0:1.0:0.0:0.0	.	67;157;147	B5MDL5;P53778;F6TXG5	.;MK12_HUMAN;.	D	147;67;157	ENSP00000379126:G67D;ENSP00000215659:G157D	ENSP00000215659:G157D	G	-	2	0	MAPK12	49037189	0.593000	0.26840	0.986000	0.45419	0.787000	0.44495	4.173000	0.58249	2.241000	0.73720	0.549000	0.68633	GGC	MAPK12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000074999.2		-	ENST00000215659.8	Missense_Mutation	SNP	22 : 50695062 - 50695062 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	628	117
TET1	80312	broad.mit.edu	37	10	70332731	70332731	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70332731G>T	ENST00000373644.4	+	2	845	c.636G>T	c.(634-636)gaG>gaT	p.E212D		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	212					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CTGCAGCTGAGATCCTTCCTG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	46	47			NA	NA	10		NA											NA				70332731		2203	4300	6503	SO:0001583	missense			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336	80312	80312			29484	protein-coding gene	gene with protein product	leukemia-associated protein with a CXXC domain, ten-eleven translocation-1	607790	CXXC zinc finger 6, tet oncogene 1	CXXC6	NA	12124344, 12646957	Standard	NM_030625	NM_030625	NA	Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.636G>T	10.37:g.70332731G>T	ENSP00000362748:p.Glu212Asp	NA	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	37	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.491651	0.26774	.	.	ENSG00000138336	ENST00000373644	T	0.07021	3.23	5.53	2.11	0.27256	.	1.368980	0.04955	N	0.461030	T	0.06005	0.0156	L	0.27053	0.805	0.09310	N	1	B	0.21452	0.056	B	0.14578	0.011	T	0.41680	-0.9495	10	0.22706	T	0.39	.	2.4407	0.04493	0.177:0.2657:0.4217:0.1356	.	212	Q8NFU7	TET1_HUMAN	D	212	ENSP00000362748:E212D	ENSP00000362748:E212D	E	+	3	2	TET1	70002737	0.000000	0.05858	0.018000	0.16275	0.547000	0.35210	0.145000	0.16157	0.643000	0.30638	0.563000	0.77884	GAG	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048354.1		+	ENST00000373644.4	Missense_Mutation	SNP	10 : 70332731 - 70332731 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	341	67
CUBN	8029	broad.mit.edu	37	10	16877056	16877056	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16877056A>C	ENST00000377833.4	-	64	10384	c.10319T>G	c.(10318-10320)cTt>cGt	p.L3440R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3440	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCGATGCCAAGTGAATGAAA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	117	123			NA	NA	10		NA											NA				16877056		2203	4300	6503	SO:0001583	missense			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611	8029	8029			2548	protein-coding gene	gene with protein product		602997		MGA1	NA	9572993, 9478979	Standard	NM_001081	NM_001081	NA	Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10319T>G	10.37:g.16877056A>C	ENSP00000367064:p.Leu3440Arg	NA	B0YIZ4|Q5VTA6|Q96RU9	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.305128	0.40795	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.24538	1.85	4.84	4.84	0.62591	CUB (5);	0.000000	0.44097	D	0.000491	T	0.36580	0.0972	M	0.80422	2.495	0.80722	D	1	B	0.25169	0.119	B	0.30855	0.121	T	0.36187	-0.9758	10	0.72032	D	0.01	.	14.5848	0.68317	1.0:0.0:0.0:0.0	.	3440	O60494	CUBN_HUMAN	R	3440;281	ENSP00000367064:L3440R	ENSP00000367064:L3440R	L	-	2	0	CUBN	16917062	1.000000	0.71417	0.140000	0.22221	0.373000	0.29922	8.687000	0.91255	2.028000	0.59812	0.459000	0.35465	CTT	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047009.1		-	ENST00000377833.4	Missense_Mutation	SNP	10 : 16877056 - 16877056 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	407	67
POU4F1	5457	broad.mit.edu	37	13	79175757	79175757	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:79175757G>A	ENST00000377208.5	-	2	1264	c.1053C>T	c.(1051-1053)aaC>aaT	p.N351N	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607205.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	351					axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		TCTCGCCGCCGTTGAAGAGCT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)							NA				0													29	33	32			NA	NA	13		NA											NA				79175757		2203	4300	6503	SO:0001819	synonymous_variant			X64624	CCDS31996.1	13q31.1	2011-06-20	2007-07-13		ENSG00000152192	ENSG00000152192	5457	5457		Homeoboxes / POU class	9218	protein-coding gene	gene with protein product		601632	POU domain class 4, transcription factor 1	BRN3A	NA	1357630	Standard		NM_006237	NA	Approved	RDC-1	uc001vkv.3	Q01851	OTTHUMG00000017119	ENST00000377208.5:c.1053C>T	13.37:g.79175757G>A		NA	Q14986|Q15318|Q5T227	37	CCDS31996.1																																																																																			POU4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045360.3		-	ENST00000377208.5	Silent	SNP	13 : 79175757 - 79175757 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	279	54
WWC1	23286	broad.mit.edu	37	5	167891807	167891807	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167891807C>T	ENST00000265293.4	+	21	3492	c.2990C>T	c.(2989-2991)gCg>gTg	p.A997V	WWC1_ENST00000521089.1_Missense_Mutation_p.A1003V|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	997	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GACCTGCAGGCGACAAGAACC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	67	68			NA	NA	5		NA											NA				167891807		2203	4300	6503	SO:0001583	missense			AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645	23286	23286		WW, C2 and coiled-coil domain containing	29435	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 168	610533	WW, C2 and coiled-coil domain containing 1		NA	10048485, 12559952	Standard	NM_015238	NM_001161661	NA	Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2990C>T	5.37:g.167891807C>T	ENSP00000265293:p.Ala997Val	NA	O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	37	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036953	0.54896	.	.	ENSG00000113645	ENST00000265293;ENST00000521089;ENST00000524038	T;T;T	0.51325	0.71;0.71;0.71	5.14	5.14	0.70334	.	0.060571	0.64402	D	0.000003	T	0.63651	0.2529	L	0.46819	1.47	0.58432	D	0.999991	D;B	0.89917	1.0;0.45	D;B	0.80764	0.994;0.046	T	0.63435	-0.6638	10	0.48119	T	0.1	.	18.6288	0.91352	0.0:1.0:0.0:0.0	.	1003;997	Q8IX03-2;Q8IX03	.;KIBRA_HUMAN	V	997;1003;329	ENSP00000265293:A997V;ENSP00000427772:A1003V;ENSP00000428084:A329V	ENSP00000265293:A997V	A	+	2	0	WWC1	167824385	1.000000	0.71417	0.952000	0.39060	0.064000	0.16182	4.558000	0.60789	2.405000	0.81733	0.555000	0.69702	GCG	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252791.2		+	ENST00000265293.4	Missense_Mutation	SNP	5 : 167891807 - 167891807 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	407	57
MPP4	58538	broad.mit.edu	37	2	202520927	202520927	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202520927G>T	ENST00000409143.1	-	12	1356	c.1120C>A	c.(1120-1122)Ctc>Atc	p.L374I	MPP4_ENST00000428900.2_Missense_Mutation_p.L408I|MPP4_ENST00000447335.2_Missense_Mutation_p.L425I|MPP4_ENST00000409474.3_Missense_Mutation_p.L432I|MPP4_ENST00000359962.5_Missense_Mutation_p.L432I|MPP4_ENST00000396886.3_Missense_Mutation_p.L357I|MPP4_ENST00000315506.7_Missense_Mutation_p.L388I			Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	432						cytoplasm	protein binding			kidney(1)|lung(11)	12						ATACCCATGAGCACTATGAGG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	38	37			NA	NA	2		NA											NA				202520927		2083	4212	6295	SO:0001583	missense			AF316032	CCDS46491.1	2q33.2	2008-05-15			ENSG00000082126	ENSG00000082126	58538	58538			13680	protein-coding gene	gene with protein product		606575		DLG6	NA	11414766	Standard		NM_033066	NA	Approved		uc002uyk.4	Q96JB8	OTTHUMG00000154525	ENST00000409143.1:c.1120C>A	2.37:g.202520927G>T	ENSP00000387293:p.Leu374Ile	NA	C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	37		.	.	.	.	.	.	.	.	.	.	G	22.6	4.315542	0.81469	.	.	ENSG00000082126	ENST00000409474;ENST00000315506;ENST00000396886;ENST00000359962;ENST00000315549;ENST00000374605;ENST00000428900;ENST00000409143;ENST00000447335	T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67	5.67	5.67	0.87782	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.076523	0.53938	D	0.000049	T	0.65165	0.2665	L	0.46947	1.48	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;0.971;0.999;0.999;0.999;0.999;0.999;1.0	T	0.66060	-0.6017	10	0.87932	D	0	.	19.3706	0.94481	0.0:0.0:1.0:0.0	.	374;357;408;401;388;425;432;397	F6Q0Y6;B4DUF3;E7ET46;B7ZM19;Q96JB8-2;E7EUL8;Q96JB8;Q96JB8-4	.;.;.;.;.;.;MPP4_HUMAN;.	I	432;388;357;432;397;361;408;374;425	ENSP00000387278:L432I;ENSP00000319363:L388I;ENSP00000353047:L432I;ENSP00000416781:L408I;ENSP00000387293:L374I;ENSP00000406160:L425I	ENSP00000319363:L388I	L	-	1	0	MPP4	202229172	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	6.790000	0.75115	2.676000	0.91093	0.655000	0.94253	CTC	MPP4-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000335779.1		-	ENST00000409143.1	Missense_Mutation	SNP	2 : 202520927 - 202520927 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	63	7
MRPL15	29088	broad.mit.edu	37	8	55060128	55060128	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55060128T>C	ENST00000260102.4	+	5	814	c.740T>C	c.(739-741)aTc>aCc	p.I247T		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	247					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			TTACCTGATATCACTAAAGAT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	77	78			NA	NA	8		NA											NA				55060128		2203	4300	6503	SO:0001583	missense			AB051619	CCDS6158.1	8q11.2-q13	2012-09-13			ENSG00000137547	ENSG00000137547	29088	29088		Mitochondrial ribosomal proteins / large subunits	14054	protein-coding gene	gene with protein product		611828			NA	11543634	Standard	NM_014175	NM_014175	NA	Approved	RPML7, MRP-L7, HSPC145, L15mt, MRP-L15	uc003xsa.2	Q9P015	OTTHUMG00000164315	ENST00000260102.4:c.740T>C	8.37:g.55060128T>C	ENSP00000260102:p.Ile247Thr	NA	Q96Q54|Q9H0Y1	37	CCDS6158.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.216259	0.58452	.	.	ENSG00000137547	ENST00000260102	T	0.65916	-0.18	5.33	5.33	0.75918	.	0.042804	0.85682	D	0.000000	T	0.64681	0.2620	M	0.76002	2.32	0.80722	D	1	B	0.20164	0.042	B	0.20184	0.028	T	0.65393	-0.6179	10	0.72032	D	0.01	-17.4903	15.3195	0.74109	0.0:0.0:0.0:1.0	.	247	Q9P015	RM15_HUMAN	T	247	ENSP00000260102:I247T	ENSP00000260102:I247T	I	+	2	0	MRPL15	55222681	1.000000	0.71417	0.988000	0.46212	0.947000	0.59692	5.872000	0.69636	2.011000	0.59026	0.528000	0.53228	ATC	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378254.1		+	ENST00000260102.4	Missense_Mutation	SNP	8 : 55060128 - 55060128 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	353	15
SCUBE3	222663	broad.mit.edu	37	6	35210976	35210976	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35210976C>A	ENST00000274938.7	+	15	1872	c.1872C>A	c.(1870-1872)tcC>tcA	p.S624S	SCUBE3_ENST00000394681.1_Silent_p.S640S	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	624					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CGATGGAGTCCTGTAGGCCCG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	49	46			NA	NA	6		NA											NA				35210976		2203	4300	6503	SO:0001819	synonymous_variant			AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197	222663	222663			13655	protein-coding gene	gene with protein product		614708	CUB domain and EGF-like repeat containing 3	CEGF3	NA	12270931	Standard	NM_152753	NM_152753	NA	Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.1872C>A	6.37:g.35210976C>A		NA	A8K5A3|Q5CZB3|Q86UZ9|Q8NAU9	37	CCDS4800.1																																																																																			SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040275.1		+	ENST00000274938.7	Silent	SNP	6 : 35210976 - 35210976 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	417	81
MAPRE2	10982	broad.mit.edu	37	18	32681940	32681940	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:32681940C>T	ENST00000436190.2	+	5	665	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C	MAPRE2_ENST00000589699.1_Missense_Mutation_p.R100C|MAPRE2_ENST00000413393.1_Missense_Mutation_p.R100C|MAPRE2_ENST00000588910.1_Missense_Mutation_p.R143C|MAPRE2_ENST00000300249.5_Missense_Mutation_p.R143C|MAPRE2_ENST00000538170.2_Missense_Mutation_p.R90C	NM_001143827.2	NP_001137299.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	143	CH.				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						AGTGAAAGGACGTTTCCAGGA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	71	73			NA	NA	18		NA											NA				32681940		2203	4300	6503	SO:0001583	missense			X94232	CCDS11910.1, CCDS45850.1, CCDS45851.1, CCDS58619.1	18q12.1	2013-01-17			ENSG00000166974	ENSG00000166974	10982	10982			6891	protein-coding gene	gene with protein product	APC-binding protein EB1	605789			NA	9233623, 12475954	Standard	NM_014268	NM_001143826	NA	Approved	RP1, EB1, EB2	uc010xcc.3	Q15555	OTTHUMG00000132551	ENST00000436190.2:c.391C>T	18.37:g.32681940C>T	ENSP00000407723:p.Arg131Cys	NA	B2RE21|Q9UQ33	37	CCDS45850.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.207572	0.58343	.	.	ENSG00000166974	ENST00000413393;ENST00000436190;ENST00000300249;ENST00000538170	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.28	5.28	0.74379	Calponin homology domain (4);	0.000000	0.85682	D	0.000000	T	0.59783	0.2219	M	0.93241	3.395	0.80722	D	1	P;B;B;B	0.39282	0.666;0.058;0.152;0.093	B;B;B;B	0.37989	0.262;0.01;0.059;0.142	T	0.69859	-0.5031	10	0.52906	T	0.07	-8.5856	13.814	0.63281	0.1533:0.8467:0.0:0.0	.	131;90;143;143	E9PHR3;F5H1V8;Q15555;Q15555-2	.;.;MARE2_HUMAN;.	C	100;131;143;90	ENSP00000396074:R100C;ENSP00000407723:R131C;ENSP00000300249:R143C;ENSP00000446343:R90C	ENSP00000300249:R143C	R	+	1	0	MAPRE2	30935938	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	4.717000	0.61923	2.461000	0.83175	0.561000	0.74099	CGT	MAPRE2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442239.3		+	ENST00000436190.2	Missense_Mutation	SNP	18 : 32681940 - 32681940 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	398	62
ZNF333	84449	broad.mit.edu	37	19	14806443	14806443	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14806443G>T	ENST00000292530.6	+	4	284	c.193G>T	c.(193-195)Gaa>Taa	p.E65*	ZNF333_ENST00000540689.2_Nonsense_Mutation_p.E65*|ZNF333_ENST00000601134.1_Intron|ZNF333_ENST00000536363.1_5'UTR|ZNF333_ENST00000601629.1_3'UTR	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	65	KRAB 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						AAAGGCAACAGAACGAGGGAT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(60;75 1281 16985 25154 29885)							NA				0													119	96	104			NA	NA	19		NA											NA				14806443		2203	4300	6503	SO:0001587	stop_gained				CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961	84449	84449		Zinc fingers, C2H2-type, -	15624	protein-coding gene	gene with protein product		611811			NA	12151103	Standard	NM_032433	XM_005260098	NA	Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.193G>T	19.37:g.14806443G>T	ENSP00000292530:p.Glu65*	NA	Q8TDL0	37	CCDS12316.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891555	0.52014	.	.	ENSG00000160961	ENST00000392987;ENST00000540689;ENST00000292530	.	.	.	2.47	1.41	0.22369	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	5.2459	0.15496	0.1732:0.0:0.8268:0.0	.	.	.	.	X	65	.	ENSP00000292530:E65X	E	+	1	0	ZNF333	14667443	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.527000	0.22987	0.394000	0.25230	-0.350000	0.07774	GAA	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466496.1		+	ENST00000292530.6	Nonsense_Mutation	SNP	19 : 14806443 - 14806443 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	225	38
FAT4	79633	broad.mit.edu	37	4	126240358	126240358	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126240358G>T	ENST00000394329.3	+	1	2805	c.2792G>T	c.(2791-2793)aGt>aTt	p.S931I		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	931	Cadherin 9.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTACTCTATAGTCTGAAGCAA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	61	60			NA	NA	4		NA											NA				126240358		1944	4150	6094	SO:0001583	missense			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159	79633	79633		Cadherins / Cadherin-related	23109	protein-coding gene	gene with protein product	cadherin-related family member 11	612411	FAT tumor suppressor homolog 4 (Drosophila)		NA	15003449	Standard	NM_024582	NM_024582	NA	Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.2792G>T	4.37:g.126240358G>T	ENSP00000377862:p.Ser931Ile	NA	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595127	0.46318	.	.	ENSG00000196159	ENST00000394329	T	0.02656	4.21	5.63	5.63	0.86233	Cadherin (4);Cadherin-like (1);	0.000000	0.40554	U	0.001073	T	0.17066	0.0410	M	0.81341	2.54	0.80722	D	1	P	0.48230	0.907	D	0.65684	0.937	T	0.00143	-1.1996	10	0.37606	T	0.19	.	19.7096	0.96089	0.0:0.0:1.0:0.0	.	931	Q6V0I7	FAT4_HUMAN	I	931	ENSP00000377862:S931I	ENSP00000377862:S931I	S	+	2	0	FAT4	126459808	1.000000	0.71417	1.000000	0.80357	0.433000	0.31745	7.682000	0.84083	2.652000	0.90054	0.655000	0.94253	AGT	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256765.2		+	ENST00000394329.3	Missense_Mutation	SNP	4 : 126240358 - 126240358 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	273	55
C20orf26	0	broad.mit.edu	37	20	20180517	20180517	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20180517G>A	ENST00000245957.5	+	17	1979	c.1903G>A	c.(1903-1905)Gct>Act	p.A635T	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		635										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TGGCATAAACGCTCCATCAAA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	113	117			NA	NA	20		NA											NA				20180517		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000245957.5:c.1903G>A	20.37:g.20180517G>A	ENSP00000245957:p.Ala635Thr	NA	A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	37	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270035	0.80469	.	.	ENSG00000089101	ENST00000343997;ENST00000339482;ENST00000389655;ENST00000245957	T	0.23552	1.9	5.57	5.57	0.84162	.	0.157250	0.45867	D	0.000333	T	0.52403	0.1732	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.949	T	0.45011	-0.9290	10	0.40728	T	0.16	.	19.5625	0.95378	0.0:0.0:1.0:0.0	.	615;635	F8W6K4;Q8NHU2	.;CT026_HUMAN	T	575;203;615;635	ENSP00000245957:A635T	ENSP00000245957:A635T	A	+	1	0	C20orf26	20128517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.904000	0.69886	2.620000	0.88729	0.563000	0.77884	GCT	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078228.3		+	ENST00000245957.5	Missense_Mutation	SNP	20 : 20180517 - 20180517 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	939	96
LRP2	4036	broad.mit.edu	37	2	170038097	170038097	+	Missense_Mutation	SNP	C	C	T	rs137983840	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170038097C>T	ENST00000263816.3	-	52	10315	c.10030G>A	c.(10030-10032)Gca>Aca	p.A3344T	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3344					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCAATGTATGCGCGGTGACCC	0.483		NA											C	2	9e-04	0.002	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	9e-04	1	LOWCOV,EXOME	NA	NA	0.0019	SNP								NA				0								C	THR/ALA	23,4383	29.9+/-59.1	0,23,2180	151	123	132		10030	4.8	0.8	2	dbSNP_134	132	1,8599	1.2+/-3.3	0,1,4299	yes	missense	LRP2	NM_004525.2	58	0,24,6479	TT,TC,CC	NA	0.0116,0.522,0.1845	probably-damaging	3344/4656	170038097	24,12982	2203	4300	6503	SO:0001583	missense				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479	4036	4036		Low density lipoprotein receptors	6694	protein-coding gene	gene with protein product	megalin	600073			NA	7959795	Standard	NM_004525	NM_004525	NA	Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.10030G>A	2.37:g.170038097C>T	ENSP00000263816:p.Ala3344Thr	NA	O00711|Q16215	37	CCDS2232.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	C	17.25	3.341348	0.60963	0.00522	1.16E-4	ENSG00000081479	ENST00000263816;ENST00000536293	D	0.97811	-4.55	5.66	4.76	0.60689	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.170562	0.52532	D	0.000080	D	0.98327	0.9445	M	0.92169	3.28	0.80722	D	1	D	0.76494	0.999	P	0.62184	0.899	D	0.96079	0.9052	10	0.59425	D	0.04	.	16.2936	0.82761	0.0:0.7787:0.2213:0.0	.	3344	P98164	LRP2_HUMAN	T	3344;39	ENSP00000263816:A3344T	ENSP00000263816:A3344T	A	-	1	0	LRP2	169746343	0.991000	0.36638	0.788000	0.31933	0.219000	0.24729	2.604000	0.46274	2.661000	0.90470	0.655000	0.94253	GCA	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255231.2		-	ENST00000263816.3	Missense_Mutation	SNP	2 : 170038097 - 170038097 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	322	82
PITX3	5309	broad.mit.edu	37	10	103991721	103991721	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103991721G>A	ENST00000370002.3	-	2	270	c.117C>T	c.(115-117)agC>agT	p.S39S	PITX3_ENST00000539804.1_Splice_Site_p.S39S	NM_005029.3	NP_005020.1	O75364	PITX3_HUMAN	paired-like homeodomain 3	39					dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(2)	5		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CGCGCTTACCGCTGTGCTCCT	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	20	18			NA	NA	10		NA											NA				103991721		2193	4285	6478	SO:0001630	splice_region_variant				CCDS7532.1	10q24.32	2013-11-14	2007-07-12		ENSG00000107859	ENSG00000107859	5309	5309		Homeoboxes / PRD class	9006	protein-coding gene	gene with protein product		602669	paired-like homeodomain transcription factor 3, anterior segment mesenchymal dysgenesis	ASMD	NA	9620774	Standard		NM_005029	NA	Approved		uc001kuu.1	O75364	OTTHUMG00000018952	ENST00000370002.3:c.118+1C>T	10.37:g.103991721G>A		NA	Q5VZL2	37	CCDS7532.1																																																																																			PITX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050031.1	Silent	-	ENST00000370002.3	Splice_Site	SNP	10 : 103991721 - 103991721 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	231	19
KIF26B	55083	broad.mit.edu	37	1	245849753	245849753	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245849753G>A	ENST00000366518.4	+	9	2429	c.2325G>A	c.(2323-2325)caG>caA	p.Q775Q	KIF26B_ENST00000407071.2_Silent_p.Q1156Q			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1156					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ATGATGAGCAGCAGGCAGCTA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	64	60			NA	NA	1		NA											NA				245849753		2163	4247	6410	SO:0001819	synonymous_variant			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849	55083	55083		Kinesins	25484	protein-coding gene	gene with protein product		614026			NA		Standard	XM_371354	NM_018012	NA	Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000366518.4:c.2325G>A	1.37:g.245849753G>A		NA	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	37																																																																																				KIF26B-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000096658.2		+	ENST00000366518.4	Silent	SNP	1 : 245849753 - 245849753 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	608	111
CMIP	80790	broad.mit.edu	37	16	81685954	81685954	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81685954G>A	ENST00000537098.3	+	4	696	c.624G>A	c.(622-624)tcG>tcA	p.S208S	CMIP_ENST00000539778.2_Silent_p.S114S|CMIP_ENST00000398040.4_Silent_p.S55S|CMIP_ENST00000566513.1_3'UTR	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	174						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						AAATCGTCTCGAAACTGCTCT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	66	65			NA	NA	16		NA											NA				81685954		1913	4111	6024	SO:0001819	synonymous_variant			AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815	80790	80790			24319	protein-coding gene	gene with protein product		610112			NA	11214970, 12939343	Standard	NM_030629	NM_030629	NA	Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.624G>A	16.37:g.81685954G>A		NA	Q9C0G9	37	CCDS54044.1																																																																																			CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432399.2		+	ENST00000537098.3	Silent	SNP	16 : 81685954 - 81685954 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	387	119
HERC2	8924	broad.mit.edu	37	15	28473421	28473421	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28473421C>T	ENST00000261609.7	-	35	5515	c.5407G>A	c.(5407-5409)Gac>Aac	p.D1803N		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1803					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGCAGAAGGTCGAGGTTGTTT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	61	67			NA	NA	15		NA											NA				28473421		2203	4300	6503	SO:0001583	missense			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731	8924	8924			4868	protein-coding gene	gene with protein product		605837	hect domain and RLD 2		NA	9949213	Standard	NM_004667	NM_004667	NA	Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.5407G>A	15.37:g.28473421C>T	ENSP00000261609:p.Asp1803Asn	NA	Q86SV7|Q86SV8|Q86SV9|Q86YY3|Q86YY4|Q86YY5|Q86YY6|Q86YY7|Q86YY8|Q86YY9|Q86YZ0|Q86YZ1	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	2.286	-0.363679	0.05103	.	.	ENSG00000128731	ENST00000261609	T	0.37411	1.2	4.21	0.74	0.18330	.	0.334862	0.33875	N	0.004471	T	0.10208	0.0250	N	0.02011	-0.69	0.27090	N	0.962869	B	0.02656	0.0	B	0.01281	0.0	T	0.36625	-0.9740	10	0.05525	T	0.97	.	7.4641	0.27312	0.0:0.2304:0.0:0.7696	.	1803	O95714	HERC2_HUMAN	N	1803	ENSP00000261609:D1803N	ENSP00000261609:D1803N	D	-	1	0	HERC2	26147016	1.000000	0.71417	0.888000	0.34837	0.289000	0.27227	2.211000	0.42825	0.065000	0.16485	-0.234000	0.12200	GAC	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251358.2		-	ENST00000261609.7	Missense_Mutation	SNP	15 : 28473421 - 28473421 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	254	16
IARS	3376	broad.mit.edu	37	9	95043153	95043153	+	Translation_Start_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95043153A>C	ENST00000375643.3	-	7	886	c.620T>G	c.(619-621)tTt>tGt	p.F207C	IARS_ENST00000443024.2_Missense_Mutation_p.F207C|IARS_ENST00000447699.2_Missense_Mutation_p.F97C|IARS_ENST00000375629.3_De_novo_Start_OutOfFrame	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	207					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	GAAAGTTACAAATACTGAAGG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	70	72			NA	NA	9		NA											NA				95043153		2203	4300	6503	SO:0001583	missense			AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	3376	3376	6.1.1.5	Aminoacyl tRNA synthetases / Class I	5330	protein-coding gene	gene with protein product	isoleucine tRNA ligase 1, cytoplasmic	600709			NA	8812440	Standard	NM_002161	NM_002161	NA	Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.620T>G	9.37:g.95043153A>C	ENSP00000364794:p.Phe207Cys	NA	A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	37	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.508576	0.85282	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660;ENST00000395554	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	5.41	5.41	0.78517	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.052475	0.64402	D	0.000001	D	0.87305	0.6144	M	0.85099	2.735	0.80722	D	1	P;P	0.52170	0.903;0.951	P;P	0.58520	0.796;0.84	D	0.89453	0.3731	10	0.87932	D	0	-22.2468	14.7139	0.69254	1.0:0.0:0.0:0.0	.	207;52	P41252;Q6P0M4	SYIC_HUMAN;.	C	207;207;97;207;207	ENSP00000364794:F207C;ENSP00000406448:F207C;ENSP00000415020:F97C;ENSP00000378922:F207C	ENSP00000364794:F207C	F	-	2	0	IARS	94082974	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.756000	0.62205	2.169000	0.68431	0.533000	0.62120	TTT	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053059.2		-	ENST00000375643.3	Missense_Mutation	SNP	9 : 95043153 - 95043153 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	206	10
OR4C46	119749	broad.mit.edu	37	11	51515910	51515910	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:51515910C>A	ENST00000328188.1	+	1	629	c.629C>A	c.(628-630)gCc>gAc	p.A210D		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TTAAACTTTGCCCTCCTGCTG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	106	112			NA	NA	11		NA											NA				51515910		2201	4296	6497	SO:0001583	missense				CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926	119749	119749		GPCR / Class A : Olfactory receptors	31271	protein-coding gene	gene with protein product		614273			NA		Standard	NM_001004703	NM_001004703	NA	Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.629C>A	11.37:g.51515910C>A	ENSP00000329056:p.Ala210Asp	NA		37	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	1.840	-0.467648	0.04476	.	.	ENSG00000185926	ENST00000328188	T	0.39229	1.09	2.47	0.105	0.14535	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41097	D	0.000941	T	0.41811	0.1175	M	0.75777	2.31	0.09310	N	1	B	0.19445	0.036	B	0.32022	0.139	T	0.46527	-0.9185	10	0.72032	D	0.01	.	6.6039	0.22714	0.0:0.4123:0.0:0.5877	.	210	A6NHA9	O4C46_HUMAN	D	210	ENSP00000329056:A210D	ENSP00000329056:A210D	A	+	2	0	OR4C46	51372486	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.275000	0.18698	-0.122000	0.11766	-1.950000	0.00486	GCC	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391155.1		+	ENST00000328188.1	Missense_Mutation	SNP	11 : 51515910 - 51515910 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	434	79
EARS2	124454	broad.mit.edu	37	16	23555946	23555946	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23555946G>A	ENST00000563459.1	-	3	380	c.374C>T	c.(373-375)gCc>gTc	p.A125V	EARS2_ENST00000563232.1_Missense_Mutation_p.A125V|EARS2_ENST00000564987.1_Intron|EARS2_ENST00000564501.1_Missense_Mutation_p.A125V|EARS2_ENST00000449606.1_Missense_Mutation_p.A125V			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	125					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	TGTGGCCTGGGCATACAGCTC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	28	27			NA	NA	16		NA											NA				23555946		1967	4150	6117	SO:0001583	missense			AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	124454	124454	6.1.1.17	Aminoacyl tRNA synthetases / Class I	29419	protein-coding gene	gene with protein product	glutamate tRNA ligase 2, mitochondrial	612799	glutamyl-tRNA synthetase 2, mitochondrial (putative)		NA	15779907, 19805282, 22492562	Standard	NM_133451	NM_001083614	NA	Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.374C>T	16.37:g.23555946G>A	ENSP00000456467:p.Ala125Val	NA	B3KTT2|D3DWF1|Q8TF31	37	CCDS42132.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.522232	0.27211	.	.	ENSG00000103356	ENST00000449606;ENST00000341597	T	0.22539	1.95	5.66	5.66	0.87406	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);	0.684095	0.15332	N	0.267955	T	0.17492	0.0420	L	0.31526	0.94	0.29233	N	0.873174	P;B	0.45827	0.867;0.04	B;B	0.41860	0.368;0.166	T	0.07328	-1.0778	10	0.56958	D	0.05	-0.6922	9.9702	0.41749	0.0:0.1579:0.6978:0.1443	.	125;125	Q86YH3;Q5JPH6	.;SYEM_HUMAN	V	125	ENSP00000395196:A125V	ENSP00000343488:A125V	A	-	2	0	EARS2	23463447	0.000000	0.05858	0.991000	0.47740	0.096000	0.18686	0.438000	0.21559	2.673000	0.90976	0.561000	0.74099	GCC	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434844.1		-	ENST00000563459.1	Missense_Mutation	SNP	16 : 23555946 - 23555946 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	124	9
KIFC3	3801	broad.mit.edu	37	16	57794323	57794323	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57794323G>T	ENST00000543930.1	-	15	2372	c.1812C>A	c.(1810-1812)tcC>tcA	p.S604S	KIFC3_ENST00000539578.1_Silent_p.S688S|KIFC3_ENST00000421376.2_Silent_p.S607S|KIFC3_ENST00000379655.4_Silent_p.S746S|KIFC3_ENST00000540079.2_Silent_p.S644S|KIFC3_ENST00000445690.2_Silent_p.S746S|KIFC3_ENST00000562903.1_Silent_p.S607S|KIFC3_ENST00000465878.2_Silent_p.S607S|KIFC3_ENST00000541240.1_Silent_p.S768S			Q9BVG8	KIFC3_HUMAN	kinesin family member C3	746	Kinesin-motor.				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				TCTCCACGGGGGACACCTAGG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	64	64			NA	NA	16		NA											NA				57794323		2198	4300	6498	SO:0001819	synonymous_variant			BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859	3801	3801		Kinesins	6326	protein-coding gene	gene with protein product		604535			NA	9782090	Standard	NM_005550	NM_001130099	NA	Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000543930.1:c.1812C>A	16.37:g.57794323G>T		NA	O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	37																																																																																				KIFC3-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000432168.1		-	ENST00000543930.1	Silent	SNP	16 : 57794323 - 57794323 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	432	68
ZNF701	55762	broad.mit.edu	37	19	53086312	53086312	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53086312G>A	ENST00000540331.1	+	5	1423	c.1198G>A	c.(1198-1200)Gtt>Att	p.V400I	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.V334I|ZNF701_ENST00000301093.2_Missense_Mutation_p.V400I	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		ATGTGACAAAGTTTTCAGTCG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(89;451 1475 9611 20673 52284)							NA				0													81	84	83			NA	NA	19		NA											NA				53086312		2203	4297	6500	SO:0001583	missense			AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562	55762	55762		Zinc fingers, C2H2-type, -	25597	protein-coding gene	gene with protein product					NA		Standard	NM_018260	NM_018260	NA	Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.1198G>A	19.37:g.53086312G>A	ENSP00000444339:p.Val400Ile	NA	A2RRM8|Q66K42	37	CCDS54311.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.562911	0.27915	.	.	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	T;T;T	0.01015	5.44;5.44;5.44	1.87	0.685	0.18009	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02342	0.0072	L	0.41961	1.31	0.09310	N	1	P;D	0.63046	0.881;0.992	B;D	0.77004	0.406;0.989	T	0.50065	-0.8871	9	0.72032	D	0.01	.	2.9813	0.05954	0.1571:0.0:0.3677:0.4751	.	400;334	F5GZM6;Q9NV72	.;ZN701_HUMAN	I	334;400;400	ENSP00000375662:V334I;ENSP00000301093:V400I;ENSP00000444339:V400I	ENSP00000301093:V400I	V	+	1	0	ZNF701	57778124	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-2.156000	0.01283	0.091000	0.17302	0.400000	0.26472	GTT	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463467.1		+	ENST00000540331.1	Missense_Mutation	SNP	19 : 53086312 - 53086312 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	665	90
STXBP5L	9515	broad.mit.edu	37	3	120976165	120976165	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120976165G>A	ENST00000273666.6	+	17	2088	c.1817G>A	c.(1816-1818)aGt>aAt	p.S606N	STXBP5L_ENST00000492541.1_Missense_Mutation_p.S606N|STXBP5L_ENST00000471454.1_Missense_Mutation_p.S606N|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S606N|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S606N	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	606					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ACAAAGGACAGTATTCCATGC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	90	91			NA	NA	3		NA											NA				120976165		1837	4083	5920	SO:0001583	missense			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087	9515	9515		WD repeat domain containing	30757	protein-coding gene	gene with protein product		609381			NA	10231032, 14767561	Standard		NM_014980	NA	Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1817G>A	3.37:g.120976165G>A	ENSP00000273666:p.Ser606Asn	NA	Q4G1B4|Q6PIC3	37	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	8.995	0.978561	0.18812	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.34275	2.04;2.04;1.84;1.37;1.85;2.04	5.33	5.33	0.75918	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.46889	0.1416	N	0.25380	0.74	0.80722	D	1	D;D	0.64830	0.994;0.994	D;D	0.72338	0.977;0.977	T	0.19451	-1.0305	10	0.16896	T	0.51	-20.4634	19.3771	0.94514	0.0:0.0:1.0:0.0	.	606;606	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	N	606	ENSP00000273666:S606N;ENSP00000420019:S606N;ENSP00000419627:S606N;ENSP00000420287:S606N;ENSP00000420666:S606N;ENSP00000420167:S606N	ENSP00000273666:S606N	S	+	2	0	STXBP5L	122458855	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.514000	0.73746	2.647000	0.89833	0.460000	0.39030	AGT	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355256.3		+	ENST00000273666.6	Missense_Mutation	SNP	3 : 120976165 - 120976165 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	594	114
ARID4A	5926	broad.mit.edu	37	14	58838690	58838690	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58838690G>A	ENST00000355431.3	+	24	4130	c.3757G>A	c.(3757-3759)Gct>Act	p.A1253T	RP11-517O13.3_ENST00000556390.1_RNA|ARID4A_ENST00000395168.3_Missense_Mutation_p.A1199T|ARID4A_ENST00000348476.3_Missense_Mutation_p.A1184T|ARID4A_ENST00000431317.2_Missense_Mutation_p.A1184T	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1253					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAATGTACTTGCTGTAGAATG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	121	132			NA	NA	14		NA											NA				58838690		2203	4300	6503	SO:0001583	missense			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219	5926	5926		-	9885	protein-coding gene	gene with protein product		180201	retinoblastoma-binding protein 1	RBBP1	NA	1857421, 8455946	Standard	NM_023001	NM_023000	NA	Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.3757G>A	14.37:g.58838690G>A	ENSP00000347602:p.Ala1253Thr	NA	Q15991|Q15992|Q15993	37	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041641	0.75732	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317	T;T;T;T	0.15834	2.39;2.46;2.46;2.46	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.30166	0.0756	N	0.19112	0.55	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.87578	0.998;0.989;0.998	T	0.10154	-1.0642	10	0.72032	D	0.01	-19.7907	19.087	0.93206	0.0:0.0:1.0:0.0	.	1184;1253;1199	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	T	1253;1184;1199;1184	ENSP00000347602:A1253T;ENSP00000344556:A1184T;ENSP00000378597:A1199T;ENSP00000397368:A1184T	ENSP00000344556:A1184T	A	+	1	0	ARID4A	57908443	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.716000	0.91420	2.737000	0.93849	0.563000	0.77884	GCT	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276927.2		+	ENST00000355431.3	Missense_Mutation	SNP	14 : 58838690 - 58838690 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	137	29
SNIP1	79753	broad.mit.edu	37	1	38003439	38003439	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38003439G>A	ENST00000296215.6	-	4	1173	c.1101C>T	c.(1099-1101)taC>taT	p.Y367Y		NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	367					production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				GGAGCAAGACGTATTCTCTGC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													275	245	255			NA	NA	1		NA											NA				38003439		2203	4300	6503	SO:0001819	synonymous_variant				CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877	79753	79753			30587	protein-coding gene	gene with protein product		608241			NA	10887155, 15378006	Standard	NM_024700	NM_024700	NA	Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.1101C>T	1.37:g.38003439G>A		NA	Q96SP9|Q9H9T7	37	CCDS419.1																																																																																			SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000012169.2		-	ENST00000296215.6	Silent	SNP	1 : 38003439 - 38003439 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	573	118
PLXNB2	23654	broad.mit.edu	37	22	50728054	50728054	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50728054G>A	ENST00000449103.1	-	3	1100	c.960C>T	c.(958-960)caC>caT	p.H320H	PLXNB2_ENST00000359337.4_Silent_p.H320H			O15031	PLXB2_HUMAN	plexin B2	320	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCATCTTGGCGTGCACCTTGT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,3920		0,0,1960	43	52	49		960	-3.8	0	22		49	2,8322		0,2,4160	no	coding-synonymous	PLXNB2	NM_012401.3		0,2,6120	AA,AG,GG	NA	0.024,0.0,0.0163		320/1839	50728054	2,12242	1960	4162	6122	SO:0001819	synonymous_variant				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576	23654	23654		Plexins	9104	protein-coding gene	gene with protein product		604293			NA	10520995, 12183458	Standard	NM_012401	NM_012401	NA	Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.960C>T	22.37:g.50728054G>A		NA	A6QRH0|Q7KZU3|Q9BSU7	37	CCDS43035.1																																																																																			PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316874.3		-	ENST00000449103.1	Silent	SNP	22 : 50728054 - 50728054 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	525	95
NLGN4X	57502	broad.mit.edu	37	X	5950748	5950748	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:5950748G>A	ENST00000381095.3	-	3	1100				NLGN4X_ENST00000538097.1_Intron|NLGN4X_ENST00000275857.6_Intron|NLGN4X_ENST00000381093.2_Silent_p.D172D|NLGN4X_ENST00000381092.1_Intron	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	NA					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CTTCACCACGGTCATTACTCG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	36	36			NA	NA	X		NA											NA				5950748		876	1990	2866	SO:0001627	intron_variant			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938	57502	57502			14287	protein-coding gene	gene with protein product		300427	neuroligin 4	NLGN4	NA	10574462	Standard	NM_020742	XM_005274564	NA	Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.473-3275C>T	X.37:g.5950748G>A		NA	Q6UX10|Q9ULG0	37	CCDS14126.1																																																																																			NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055673.1		-	ENST00000381095.3	Intron	SNP	X : 5950748 - 5950748 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	92	23
MYT1	4661	broad.mit.edu	37	20	62839313	62839313	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62839313T>C	ENST00000328439.1	+	7	1128	c.764T>C	c.(763-765)cTg>cCg	p.L255P	MYT1_ENST00000536311.1_Missense_Mutation_p.L255P|MYT1_ENST00000360149.4_Intron	NM_004535.2	NP_004526.1	Q01538	MYT1_HUMAN	myelin transcription factor 1	255	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AAAGGCATCCTGAGTCACgaa	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(59;481 1041 20555 21139 33705)							NA				0													27	27	27			NA	NA	20		NA											NA				62839313		2203	4300	6503	SO:0001583	missense			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132	4661	4661		Zinc fingers, C2HC-type containing	7622	protein-coding gene	gene with protein product	neural zinc finger transcription factor 2	600379		PLPB1	NA	1280325, 9268380	Standard	NM_004535	NM_004535	NA	Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.764T>C	20.37:g.62839313T>C	ENSP00000327465:p.Leu255Pro	NA	E1P5H0|O94922|Q9UPV2	37	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	t	9.258	1.042377	0.19748	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.72615	-0.67;-0.67	4.05	-0.0937	0.13648	.	0.882556	0.09404	N	0.806797	T	0.54431	0.1858	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43556	-0.9384	10	0.37606	T	0.19	-0.0125	0.3961	0.00418	0.2218:0.1385:0.2294:0.4103	.	255	Q01538	MYT1_HUMAN	P	255	ENSP00000327465:L255P;ENSP00000442412:L255P	ENSP00000327465:L255P	L	+	2	0	MYT1	62309757	0.015000	0.18098	0.004000	0.12327	0.952000	0.60782	0.501000	0.22578	0.427000	0.26145	0.451000	0.29950	CTG	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080297.1		+	ENST00000328439.1	Missense_Mutation	SNP	20 : 62839313 - 62839313 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	112	15
KIRREL3	84623	broad.mit.edu	37	11	126294626	126294626	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126294626C>T	ENST00000525144.2	-	17	2435	c.2186G>A	c.(2185-2187)aGc>aAc	p.S729N	KIRREL3_ENST00000529097.2_Missense_Mutation_p.S717N|KIRREL3_ENST00000416561.2_Missense_Mutation_p.S196N	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	729	Ser-rich.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		GCTGACGCTGCTGTCACACTG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	114	111			NA	NA	11		NA											NA				126294626		2190	4289	6479	SO:0001583	missense			AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571	84623	84623		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	23204	protein-coding gene	gene with protein product		607761			NA	12424224, 11347906	Standard	NM_032531	NM_032531	NA	Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.2186G>A	11.37:g.126294626C>T	ENSP00000435466:p.Ser729Asn	NA	Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	37	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736977	0.89482	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000416561	T;T;T	0.46451	0.87;0.87;0.87	4.88	4.88	0.63580	.	0.048757	0.85682	D	0.000000	T	0.28896	0.0717	N	0.14661	0.345	0.54753	D	0.999985	B;B	0.33694	0.421;0.421	B;B	0.29785	0.107;0.107	T	0.17837	-1.0356	10	0.52906	T	0.07	-13.4121	17.8235	0.88657	0.0:1.0:0.0:0.0	.	717;729	E9PRX9;Q8IZU9	.;KIRR3_HUMAN	N	729;717;196	ENSP00000435466:S729N;ENSP00000434081:S717N;ENSP00000408692:S196N	ENSP00000408692:S196N	S	-	2	0	KIRREL3	125799836	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.277000	0.78572	2.543000	0.85770	0.655000	0.94253	AGC	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386479.2		-	ENST00000525144.2	Missense_Mutation	SNP	11 : 126294626 - 126294626 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	463	42
UTRN	7402	broad.mit.edu	37	6	144758737	144758737	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144758737G>A	ENST00000367545.3	+	10	1096	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	366	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCAGAGCAGTGTGGGCAGCGT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	77	78			NA	NA	6		NA											NA				144758737		2203	4300	6503	SO:0001583	missense			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818	7402	7402			12635	protein-coding gene	gene with protein product		128240	utrophin (homologous to dystrophin)	DMDL	NA	1426262	Standard		NM_007124	NA	Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.1096G>A	6.37:g.144758737G>A	ENSP00000356515:p.Val366Met	NA	Q5SZ57	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912214	0.92178	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.58210	0.35	5.45	5.45	0.79879	.	0.000000	0.44902	D	0.000415	T	0.74007	0.3660	M	0.87617	2.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78239	-0.2281	10	0.66056	D	0.02	.	19.2915	0.94102	0.0:0.0:1.0:0.0	.	366	P46939	UTRO_HUMAN	M	366	ENSP00000356515:V366M	ENSP00000356499:V366M	V	+	1	0	UTRN	144800430	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	9.869000	0.99810	2.562000	0.86427	0.655000	0.94253	GTG	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042551.1		+	ENST00000367545.3	Missense_Mutation	SNP	6 : 144758737 - 144758737 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	364	40
KMT2D	8085	broad.mit.edu	37	12	49420396	49420396	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49420396G>A	ENST00000301067.7	-	48	15352	c.15353C>T	c.(15352-15354)gCc>gTc	p.A5118V		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D	NA											NA						GGCACGGATGGCACAAGCAAA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	80	80			NA	NA	12		NA											NA				49420396		2156	4248	6404	SO:0001583	missense			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.15353C>T	12.37:g.49420396G>A	ENSP00000301067:p.Ala5118Val	NA		37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765300	0.49574	.	.	ENSG00000167548	ENST00000301067	T	0.75589	-0.95	4.77	4.77	0.60923	Zinc finger, RING-type (1);Zinc finger, PHD-type (1);	0.000000	0.36591	N	0.002511	D	0.89012	0.6594	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91662	0.5343	10	0.87932	D	0	.	16.9322	0.86193	0.0:0.0:1.0:0.0	.	5118	O14686	MLL2_HUMAN	V	5118	ENSP00000301067:A5118V	ENSP00000301067:A5118V	A	-	2	0	MLL2	47706663	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.377000	0.81083	0.561000	0.74099	GCC	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390183.2		-	ENST00000301067.7	Missense_Mutation	SNP	12 : 49420396 - 49420396 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	433	83
GHDC	84514	broad.mit.edu	37	17	40344950	40344950	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40344950G>T	ENST00000593209.1	-	4	524	c.361C>A	c.(361-363)Cag>Aag	p.Q121K	GHDC_ENST00000428494.2_Intron|GHDC_ENST00000414034.3_Missense_Mutation_p.Q121K|GHDC_ENST00000301671.8_Missense_Mutation_p.Q121K|GHDC_ENST00000587427.1_Missense_Mutation_p.Q121K|GHDC_ENST00000436923.2_Missense_Mutation_p.Q121K			Q8N2G8	GHDC_HUMAN	GH3 domain containing	121						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CCAAGGTCCTGGTTTGAGGTC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	121	116			NA	NA	17		NA											NA				40344950		2203	4300	6503	SO:0001583	missense			AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925	84514	84514			24438	protein-coding gene	gene with protein product		608587			NA	11161808, 11735219	Standard	NM_032484	NR_024573	NA	Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000593209.1:c.361C>A	17.37:g.40344950G>T	ENSP00000468790:p.Gln121Lys	NA	Q9BXM6	37		.	.	.	.	.	.	.	.	.	.	G	11.40	1.629075	0.28978	.	.	ENSG00000167925	ENST00000393854;ENST00000414034;ENST00000301671;ENST00000436923	.	.	.	4.47	3.42	0.39159	.	0.530530	0.17821	N	0.160851	T	0.26412	0.0645	L	0.29908	0.895	0.09310	N	1	B;B	0.23249	0.082;0.02	B;B	0.21917	0.037;0.006	T	0.06935	-1.0799	9	0.22109	T	0.4	-2.9532	6.5711	0.22539	0.1327:0.0:0.8673:0.0	.	121;121	Q8N2G8-2;Q8N2G8	.;GHDC_HUMAN	K	65;121;121;121	.	ENSP00000301671:Q121K	Q	-	1	0	GHDC	37598476	0.008000	0.16893	0.014000	0.15608	0.028000	0.11728	1.114000	0.31196	2.320000	0.78422	0.561000	0.74099	CAG	GHDC-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000449793.1		-	ENST00000593209.1	Missense_Mutation	SNP	17 : 40344950 - 40344950 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	757	153
LRP1	4035	broad.mit.edu	37	12	57587393	57587393	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57587393C>T	ENST00000243077.3	+	47	8195	c.7729C>T	c.(7729-7731)Cgc>Tgc	p.R2577C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2577	LDL-receptor class A 12.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAGCAATGGGCGCTGTGTGTC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	74	78			NA	NA	12		NA											NA				57587393		2203	4300	6503	SO:0001583	missense			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384	4035	4035		CD molecules, Low density lipoprotein receptors	6692	protein-coding gene	gene with protein product		107770	alpha-2-macroglobulin receptor	APR, A2MR	NA	2548950	Standard	NM_002332	NM_002332	NA	Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.7729C>T	12.37:g.57587393C>T	ENSP00000243077:p.Arg2577Cys	NA	Q2PP12|Q8IVG8	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873444	0.72180	.	.	ENSG00000123384	ENST00000243077	D	0.96136	-3.92	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000001	D	0.97567	0.9203	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98096	1.0412	10	0.72032	D	0.01	.	17.2551	0.87053	0.0:1.0:0.0:0.0	.	2577	Q07954	LRP1_HUMAN	C	2577	ENSP00000243077:R2577C	ENSP00000243077:R2577C	R	+	1	0	LRP1	55873660	0.990000	0.36364	0.993000	0.49108	0.571000	0.35966	3.867000	0.56047	2.606000	0.88127	0.655000	0.94253	CGC	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412772.2		+	ENST00000243077.3	Missense_Mutation	SNP	12 : 57587393 - 57587393 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	209	36
ZFP91	80829	broad.mit.edu	37	11	58385162	58385162	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58385162G>T	ENST00000316059.6	+	11	1867	c.1696G>T	c.(1696-1698)Gac>Tac	p.D566Y	ZFP91-CNTF_ENST00000389919.4_Intron	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	566					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				tGAAGATTCAGACTCTGCCGG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	90	88			NA	NA	11		NA											NA				58385162		2201	4295	6496	SO:0001583	missense			AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660	80829	80829		Zinc fingers, C2H2-type	14983	protein-coding gene	gene with protein product			zinc finger protein homologous to Zfp91 in mouse, zinc finger protein 91 homolog (mouse)		NA	12738986, 20682767	Standard	NM_053023	NM_053023	NA	Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.1696G>T	11.37:g.58385162G>T	ENSP00000339030:p.Asp566Tyr	NA	A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	37	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837418	0.50951	.	.	ENSG00000186660	ENST00000316059	T	0.14893	2.47	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000009	T	0.32526	0.0832	L	0.29908	0.895	0.46701	D	0.999162	D	0.65815	0.995	D	0.68192	0.956	T	0.01643	-1.1305	10	0.87932	D	0	-20.1467	19.1254	0.93380	0.0:0.0:1.0:0.0	.	566	Q96JP5	ZFP91_HUMAN	Y	566	ENSP00000339030:D566Y	ENSP00000339030:D566Y	D	+	1	0	ZFP91	58141738	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.362000	0.66098	2.826000	0.97356	0.655000	0.94253	GAC	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268674.1		+	ENST00000316059.6	Missense_Mutation	SNP	11 : 58385162 - 58385162 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	546	22
BCAR1	9564	broad.mit.edu	37	16	75263526	75263526	+	Silent	SNP	G	G	A	rs144964852		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75263526G>A	ENST00000418647.3	-	8	2917	c.2634C>T	c.(2632-2634)gcC>gcT	p.A878A	BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000393420.6_Silent_p.A850A|BCAR1_ENST00000546196.1_Silent_p.A803A|BCAR1_ENST00000420641.3_Silent_p.A850A|BCAR1_ENST00000542031.2_Silent_p.A830A|BCAR1_ENST00000162330.5_Silent_p.A832A|BCAR1_ENST00000535626.2_Silent_p.A684A|BCAR1_ENST00000538440.2_Silent_p.A832A|BCAR1_ENST00000393422.2_Silent_p.A850A	NM_001170714.1	NP_001164185.1	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	832					actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCAAGGCAGCGGCCTTGGTGG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,,,,,,,,	0,4394		0,0,2197	38	29	32		2634,2550,2550,2550,2496,2490,2052,1866,2496	-9.8	0	16	dbSNP_134	32	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BCAR1	NM_001170714.1,NM_001170715.1,NM_001170716.1,NM_001170717.1,NM_001170718.1,NM_001170719.1,NM_001170720.1,NM_001170721.1,NM_014567.3	,,,,,,,,	0,1,6494	AA,AG,GG	NA	0.0116,0.0,0.0077	,,,,,,,,	878/917,850/889,850/889,850/889,832/871,830/869,684/723,622/661,832/871	75263526	1,12989	2197	4298	6495	SO:0001819	synonymous_variant			AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820	9564	9564		Cas scaffolding proteins	971	protein-coding gene	gene with protein product	Crk-associated substrate, Cas scaffolding protein family member 1	602941			NA	8413311, 10639512	Standard	NM_014567	NM_001170714	NA	Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000418647.3:c.2634C>T	16.37:g.75263526G>A		NA		37	CCDS54040.1																																																																																			BCAR1-005	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434666.1		-	ENST00000418647.3	Silent	SNP	16 : 75263526 - 75263526 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	176	18
ANXA11	311	broad.mit.edu	37	10	81932582	81932582	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81932582G>T	ENST00000438331.1	-	4	518	c.36C>A	c.(34-36)ggC>ggA	p.G12G	ANXA11_ENST00000535999.1_Silent_p.G12G|ANXA11_ENST00000360615.4_Silent_p.G12G|ANXA11_ENST00000537102.1_5'UTR|ANXA11_ENST00000422982.3_Silent_p.G12G|ANXA11_ENST00000372231.3_Silent_p.G12G|ANXA11_ENST00000265447.4_Silent_p.G12G	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	12					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			CTGGTGGGTAGCCACCTGGGG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	81	80			NA	NA	10		NA											NA				81932582		2203	4300	6503	SO:0001819	synonymous_variant			L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359	311	311		Annexins	535	protein-coding gene	gene with protein product		602572		ANX11	NA	7508441, 9503022	Standard	NM_145869	NM_001157	NA	Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.36C>A	10.37:g.81932582G>T		NA		37	CCDS7364.1																																																																																			ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049044.1		-	ENST00000438331.1	Silent	SNP	10 : 81932582 - 81932582 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	499	14
ANGPTL6	83854	broad.mit.edu	37	19	10205540	10205540	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10205540C>T	ENST00000253109.4	-	3	895	c.657G>A	c.(655-657)atG>atA	p.M219I	ANGPTL6_ENST00000592641.1_Missense_Mutation_p.M219I|ANGPTL6_ENST00000589181.1_Missense_Mutation_p.M219I	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	219					angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			CTGGGTCCAGCATCCTACTGG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	58	61			NA	NA	19		NA											NA				10205540		2203	4300	6503	SO:0001583	missense			AB054064	CCDS12224.1	19p13.2	2013-02-06				ENSG00000130812	83854	83854		Fibrinogen C domain containing	23140	protein-coding gene	gene with protein product	angiopoietin-related protein 5	609336			NA	12871997	Standard	NM_031917	NM_031917	NA	Approved	ARP5, AGF	uc002mmy.1	Q8NI99		ENST00000253109.4:c.657G>A	19.37:g.10205540C>T	ENSP00000253109:p.Met219Ile	NA	A5PKV7|Q9BZZ0	37	CCDS12224.1	.	.	.	.	.	.	.	.	.	.	C	0.417	-0.910153	0.02434	.	.	ENSG00000130812	ENST00000253109	T	0.51071	0.72	4.02	1.81	0.25067	.	4.157180	0.00589	N	0.000341	T	0.27349	0.0671	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.20605	-1.0270	10	0.35671	T	0.21	.	2.2278	0.03989	0.204:0.4872:0.1976:0.1112	.	219	Q8NI99	ANGL6_HUMAN	I	219	ENSP00000253109:M219I	ENSP00000253109:M219I	M	-	3	0	ANGPTL6	10066540	0.000000	0.05858	0.253000	0.24343	0.063000	0.16089	0.086000	0.14935	0.988000	0.38734	0.484000	0.47621	ATG	ANGPTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451142.1		-	ENST00000253109.4	Missense_Mutation	SNP	19 : 10205540 - 10205540 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	350	70
PPEF2	5470	broad.mit.edu	37	4	76811174	76811174	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76811174C>T	ENST00000286719.7	-	5	709	c.353G>A	c.(352-354)cGc>cAc	p.R118H		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	118				R -> S (in Ref. 1; AAB82796/AAB82797).	detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAAGGAGAGGCGTGGCCCCGT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(105;1359 1603 15961 44567 47947)							NA				0													245	214	225			NA	NA	4		NA											NA				76811174		2203	4300	6503	SO:0001583	missense			AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194	5470	5470		Serine/threonine phosphatases / Protein phosphatase, catalytic subunits, EF-hand domain containing	9244	protein-coding gene	gene with protein product	protein phosphatase 7, catalytic subunit, beta isozyme	602256			NA	9326663, 12051765	Standard	NM_006239	NM_006239	NA	Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.353G>A	4.37:g.76811174C>T	ENSP00000286719:p.Arg118His	NA	O14831	37	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	C	7.351	0.622910	0.14193	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.50001	0.76	4.8	-0.925	0.10458	Serine/threonine phosphatase, PPP5 (1);	0.315459	0.35436	N	0.003216	T	0.28333	0.0700	N	0.21097	0.63	0.34531	D	0.709223	B;B	0.16802	0.001;0.019	B;B	0.14023	0.002;0.01	T	0.14448	-1.0472	10	0.33141	T	0.24	-1.5701	9.52	0.39129	0.0:0.4153:0.0:0.5847	.	118;118	O14830-2;O14830	.;PPE2_HUMAN	H	118	ENSP00000286719:R118H	ENSP00000286719:R118H	R	-	2	0	PPEF2	77030198	0.000000	0.05858	0.993000	0.49108	0.365000	0.29674	-1.516000	0.02250	-0.137000	0.11455	-0.657000	0.03884	CGC	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362929.1		-	ENST00000286719.7	Missense_Mutation	SNP	4 : 76811174 - 76811174 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	824	126
RAB9A	9367	broad.mit.edu	37	X	13727191	13727191	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:13727191C>T	ENST00000464506.1	+	3	605	c.326C>T	c.(325-327)gCa>gTa	p.A109V	RAB9A_ENST00000243325.5_3'UTR	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	P51151	RAB9A_HUMAN	RAB9A, member RAS oncogene family	109					protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome|lysosome|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						ATATATTATGCAGATGTGAAA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	96	96			NA	NA	X		NA											NA				13727191		2202	4300	6502	SO:0001583	missense			U44103	CCDS14156.1	Xp22.2	2010-04-19	2007-01-15	2007-01-15	ENSG00000123595	ENSG00000123595	9367	9367		RAB, member RAS oncogene	9792	protein-coding gene	gene with protein product		300284	RAB9, member RAS oncogene family	RAB9	NA	9126495	Standard	NM_004251	NM_004251	NA	Approved		uc010neh.3	P51151	OTTHUMG00000021156	ENST00000464506.1:c.326C>T	X.37:g.13727191C>T	ENSP00000420127:p.Ala109Val	NA	A8K390|Q6ICN1	37	CCDS14156.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425573	0.83667	.	.	ENSG00000123595	ENST00000464506	T	0.77358	-1.09	5.42	4.52	0.55395	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.83704	0.5312	L	0.48986	1.54	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.83103	-0.0127	9	.	.	.	-3.5585	14.6906	0.69083	0.1455:0.8545:0.0:0.0	.	109	P51151	RAB9A_HUMAN	V	109	ENSP00000420127:A109V	.	A	+	2	0	RAB9A	13637112	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.618000	0.83043	2.257000	0.74773	0.594000	0.82650	GCA	RAB9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055802.1		+	ENST00000464506.1	Missense_Mutation	SNP	X : 13727191 - 13727191 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	636	149
EPHB4	2050	broad.mit.edu	37	7	100404160	100404160	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100404160G>A	ENST00000358173.3	-	14	2834	c.2366C>T	c.(2365-2367)cCg>cTg	p.P789L	EPHB4_ENST00000360620.3_Missense_Mutation_p.P789L	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	789	Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	p.P789L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					AATGGCCTCCGGGGCAGTCCA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(200;2113 3072 25865 52728)							NA				1	Substitution - Missense(1)	lung(1)											113	100	105			NA	NA	7		NA											NA				100404160		2203	4300	6503	SO:0001583	missense			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411	2050	2050		EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3395	protein-coding gene	gene with protein product		600011	EphB4	HTK	NA	8188704	Standard	NM_004444	NM_004444	NA	Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2366C>T	7.37:g.100404160G>A	ENSP00000350896:p.Pro789Leu	NA	Q9BTA5|Q9BXP0	37	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562661	0.86335	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	D;D	0.89810	-2.57;-2.57	4.68	4.68	0.58851	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.50627	D	0.000105	D	0.94676	0.8283	M	0.85710	2.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95512	0.8587	10	0.87932	D	0	.	15.0759	0.72077	0.0:0.0:1.0:0.0	.	789;789	Q96L35;P54760	.;EPHB4_HUMAN	L	789	ENSP00000353833:P789L;ENSP00000350896:P789L	ENSP00000350896:P789L	P	-	2	0	EPHB4	100242096	1.000000	0.71417	0.983000	0.44433	0.692000	0.40212	9.869000	0.99810	2.139000	0.66308	0.455000	0.32223	CCG	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347222.1		-	ENST00000358173.3	Missense_Mutation	SNP	7 : 100404160 - 100404160 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	527	81
TRIM41	90933	broad.mit.edu	37	5	180651776	180651776	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180651776C>T	ENST00000315073.5	+	1	1487	c.777C>T	c.(775-777)agC>agT	p.S259S	TRIM41_ENST00000351937.5_Silent_p.S259S|CTC-338M12.7_ENST00000499096.2_RNA	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	259						cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AACAGCACAGCGTGGTGCCAT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	68	71			NA	NA	5		NA											NA				180651776		2203	4300	6503	SO:0001819	synonymous_variant			AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063	90933	90933		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	19013	protein-coding gene	gene with protein product	RING-finger protein that interacts with C kinase	610530	tripartite motif-containing 41		NA	16022281	Standard	NM_201627	NM_033549	NA	Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.777C>T	5.37:g.180651776C>T		NA	B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	37	CCDS4466.1																																																																																			TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253574.3		+	ENST00000315073.5	Silent	SNP	5 : 180651776 - 180651776 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	482	112
HECW2	57520	broad.mit.edu	37	2	197297957	197297957	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197297957C>T	ENST00000260983.3	-	2	373	c.191G>A	c.(190-192)aGc>aAc	p.S64N		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	NA					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTCGTACATGCTGGCAGTTAA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	74	77			NA	NA	2		NA											NA				197297957		2203	4300	6503	SO:0001583	missense			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411	57520	57520			29853	protein-coding gene	gene with protein product					NA	10718198, 12890487	Standard	NM_020760	NM_020760	NA	Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.191G>A	2.37:g.197297957C>T	ENSP00000260983:p.Ser64Asn	NA	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	37	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915329	0.92178	.	.	ENSG00000138411	ENST00000260983;ENST00000452031;ENST00000427457	T;T;T	0.40756	1.02;1.02;1.02	5.27	5.27	0.74061	.	0.105732	0.64402	D	0.000003	T	0.65606	0.2707	M	0.76328	2.33	0.48288	D	0.999629	P	0.49090	0.919	D	0.64321	0.924	T	0.67875	-0.5557	10	0.87932	D	0	.	19.0714	0.93138	0.0:1.0:0.0:0.0	.	64	Q9P2P5	HECW2_HUMAN	N	64	ENSP00000260983:S64N;ENSP00000409918:S64N;ENSP00000395770:S64N	ENSP00000260983:S64N	S	-	2	0	HECW2	197006202	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.216000	0.72212	2.736000	0.93811	0.561000	0.74099	AGC	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335199.3		-	ENST00000260983.3	Missense_Mutation	SNP	2 : 197297957 - 197297957 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	472	133
ZNF491	126069	broad.mit.edu	37	19	11917376	11917376	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11917376G>A	ENST00000323169.5	+	3	939	c.608G>A	c.(607-609)cGc>cAc	p.R203H	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						AGTTCCTTTCGCAGACATGAA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	55	55			NA	NA	19		NA											NA				11917376		2203	4300	6503	SO:0001583	missense			AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599	126069	126069		Zinc fingers, C2H2-type	23706	protein-coding gene	gene with protein product					NA		Standard	NM_152356	XM_005259730	NA	Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.608G>A	19.37:g.11917376G>A	ENSP00000313443:p.Arg203His	NA	Q3MJ35|Q8NAT8	37	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	g	1.956	-0.440106	0.04636	.	.	ENSG00000177599	ENST00000323169;ENST00000455048	T	0.00792	5.69	0.892	-0.203	0.13204	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00754	0.0025	L	0.43646	1.37	0.09310	N	1	D	0.69078	0.997	B	0.40982	0.345	T	0.50915	-0.8771	9	0.52906	T	0.07	.	1.8977	0.03261	0.417:0.0:0.3131:0.2699	.	203	Q8N8L2	ZN491_HUMAN	H	203	ENSP00000313443:R203H	ENSP00000313443:R203H	R	+	2	0	ZNF491	11778376	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-1.506000	0.02271	-0.041000	0.13558	0.407000	0.27541	CGC	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344518.1		+	ENST00000323169.5	Missense_Mutation	SNP	19 : 11917376 - 11917376 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	232	43
MTF1	4520	broad.mit.edu	37	1	38287880	38287880	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38287880G>T	ENST00000373036.4	-	9	1820	c.1680C>A	c.(1678-1680)atC>atA	p.I560I		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	560						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGGACTGCAGGATAGCTGTGT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	155	156			NA	NA	1		NA											NA				38287880		2203	4300	6503	SO:0001819	synonymous_variant			BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786	4520	4520			7428	protein-coding gene	gene with protein product		600172			NA	8065932	Standard	NM_005955	NM_005955	NA	Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.1680C>A	1.37:g.38287880G>T		NA	B2RAK6|Q96CB1	37	CCDS30676.1																																																																																			MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000012984.2		-	ENST00000373036.4	Silent	SNP	1 : 38287880 - 38287880 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	299	52
CSF3R	1441	broad.mit.edu	37	1	36939383	36939383	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36939383A>G	ENST00000373103.1	-	5	1014	c.467T>C	c.(466-468)tTc>tCc	p.F156S	CSF3R_ENST00000361632.4_Missense_Mutation_p.F156S|CSF3R_ENST00000331941.5_Missense_Mutation_p.F156S|CSF3R_ENST00000418048.2_Missense_Mutation_p.F156S|CSF3R_ENST00000338937.5_Missense_Mutation_p.F156S|CSF3R_ENST00000440588.2_Missense_Mutation_p.F156S|CSF3R_ENST00000373106.1_Missense_Mutation_p.F156S|CSF3R_ENST00000373104.1_Missense_Mutation_p.F156S	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	156	Fibronectin type-III 1.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CTTCAGAGTGAAGCTGGTGGG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	99	100			NA	NA	1		NA											NA				36939383		2203	4300	6503	SO:0001583	missense			M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535	1441	1441		CD molecules, Fibronectin type III domain containing	2439	protein-coding gene	gene with protein product		138971		CD114	NA	1371413	Standard	NM_156039	NM_000760	NA	Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373103.1:c.467T>C	1.37:g.36939383A>G	ENSP00000362195:p.Phe156Ser	NA		37	CCDS414.1	.	.	.	.	.	.	.	.	.	.	A	19.83	3.900556	0.72754	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19	5.52	5.52	0.82312	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.585977	0.19347	N	0.116499	T	0.54631	0.1870	L	0.58428	1.81	0.39473	D	0.967753	D;D;D;D	0.89917	1.0;0.998;0.999;0.997	D;D;D;D	0.69654	0.965;0.927;0.931;0.917	T	0.55958	-0.8058	10	0.49607	T	0.09	-32.3395	13.3768	0.60743	1.0:0.0:0.0:0.0	.	156;156;156;156	E1B6W6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	S	156	ENSP00000362198:F156S;ENSP00000362196:F156S;ENSP00000362195:F156S;ENSP00000355406:F156S;ENSP00000332180:F156S;ENSP00000401588:F156S;ENSP00000345013:F156S;ENSP00000397568:F156S	ENSP00000332180:F156S	F	-	2	0	CSF3R	36711970	0.998000	0.40836	1.000000	0.80357	0.873000	0.50193	1.549000	0.36212	2.107000	0.64212	0.496000	0.49642	TTC	CSF3R-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022000.3		-	ENST00000373103.1	Missense_Mutation	SNP	1 : 36939383 - 36939383 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	70
AMER1	139285	broad.mit.edu	37	X	63413144	63413144	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:63413144G>A	ENST00000330258.3	-	2	295	c.23C>T	c.(22-24)gCt>gTt	p.A8V	AMER1_ENST00000374869.3_Missense_Mutation_p.A8V|AMER1_ENST00000403336.1_Missense_Mutation_p.A8V	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1	NA								p.0?(67)			NA						GGCCTGAGCAGCTTCATCCTT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)											143	117	125			NA	NA	X		NA											NA				63413144		2203	4300	6503	SO:0001583	missense			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675	139285	139285		-	26837	protein-coding gene	gene with protein product	Wilms Tumor on the X, adenomatous polyposis coli membrane recruitment 1	300647	family with sequence similarity 123B	FAM123B	NA	21304492, 21498506, 20843316	Standard	NM_152424	NM_152424	NA	Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.23C>T	X.37:g.63413144G>A	ENSP00000329117:p.Ala8Val	NA		37	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	G	8.404	0.842625	0.16963	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.46063	0.88;0.88;0.88	4.59	1.91	0.25777	.	0.754197	0.12235	N	0.487096	T	0.29423	0.0733	L	0.27053	0.805	0.27440	N	0.953734	B	0.14805	0.011	B	0.15052	0.012	T	0.23190	-1.0195	10	0.56958	D	0.05	0.0174	8.8232	0.35039	0.2652:0.0:0.7348:0.0	.	8	Q5JTC6	F123B_HUMAN	V	8	ENSP00000364003:A8V;ENSP00000329117:A8V;ENSP00000384722:A8V	ENSP00000329117:A8V	A	-	2	0	FAM123B	63329869	0.555000	0.26530	0.858000	0.33744	0.061000	0.15899	3.114000	0.50383	0.283000	0.22279	-0.191000	0.12829	GCT	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316584.1		-	ENST00000330258.3	Missense_Mutation	SNP	X : 63413144 - 63413144 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	21
YIPF2	78992	broad.mit.edu	37	19	11034607	11034607	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11034607G>A	ENST00000590329.1	-	6	540	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W	YIPF2_ENST00000586748.1_Missense_Mutation_p.R185W|YIPF2_ENST00000253031.2_Missense_Mutation_p.R185W			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	185						integral to membrane|transport vesicle				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						TTGCGCCACCGCAGGAAGCCC	0.637		NA											G	1	5e-04	NA	NA	2184	0.0017	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9135	EXOME	NA	NA	0.0014	SNP								NA				0								G	TRP/ARG	0,4402		0,0,2201	43	45	44		553	-0.6	0.8	19		44	1,8595	1.2+/-3.3	0,1,4297	no	missense	YIPF2	NM_024029.3	101	0,1,6498	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	185/317	11034607	1,12997	2201	4298	6499	SO:0001583	missense			BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733	78992	78992		Yip1 domain family	28476	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024029	NM_024029	NA	Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000590329.1:c.436C>T	19.37:g.11034607G>A	ENSP00000467019:p.Arg146Trp	NA		37		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	6.131	0.392309	0.11638	0.0	1.16E-4	ENSG00000130733	ENST00000253031	T	0.42131	0.98	5.61	-0.627	0.11541	Yip1 domain (1);	0.597682	0.18008	N	0.154655	T	0.26955	0.0660	L	0.38649	1.16	0.29600	N	0.847729	B	0.14012	0.009	B	0.10450	0.005	T	0.13415	-1.0510	10	0.33940	T	0.23	.	6.4344	0.21815	0.1359:0.0:0.5008:0.3633	.	185	Q9BWQ6	YIPF2_HUMAN	W	185	ENSP00000253031:R185W	ENSP00000253031:R185W	R	-	1	2	YIPF2	10895607	0.997000	0.39634	0.828000	0.32881	0.011000	0.07611	2.581000	0.46077	0.054000	0.16065	-2.177000	0.00319	CGG	YIPF2-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000453050.1		-	ENST00000590329.1	Missense_Mutation	SNP	19 : 11034607 - 11034607 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	148	27
HECTD4	283450	broad.mit.edu	37	12	112622084	112622084	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112622084G>T	ENST00000550722.1	-	61	10643	c.10248C>A	c.(10246-10248)gcC>gcA	p.A3416A	HECTD4_ENST00000430131.2_Silent_p.A3140A|HECTD4_ENST00000377560.5_Silent_p.A3390A	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4	NA											NA						CCGACACCGAGGCCGTCTCTG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	59	57			NA	NA	12		NA											NA				112622084		1980	4160	6140	SO:0001819	synonymous_variant			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064	283450	283450			26611	protein-coding gene	gene with protein product			chromosome 12 open reading frame 51	C12orf51	NA	21270382	Standard	NM_173813	NM_001109662	NA	Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000550722.1:c.10248C>A	12.37:g.112622084G>T		NA		37																																																																																				HECTD4-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000405222.1		-	ENST00000550722.1	Silent	SNP	12 : 112622084 - 112622084 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	698	107
MYO9A	4649	broad.mit.edu	37	15	72192062	72192062	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72192062G>A	ENST00000564571.1	-	24	3595	c.3436C>T	c.(3436-3438)Caa>Taa	p.Q1146*	MYO9A_ENST00000424560.1_Nonsense_Mutation_p.Q1146*|MYO9A_ENST00000356056.5_Nonsense_Mutation_p.Q1146*|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Nonsense_Mutation_p.Q1127*|MYO9A_ENST00000566885.1_Nonsense_Mutation_p.Q766*			B2RTY4	MYO9A_HUMAN	myosin IXA	1146	IQ 5.|Neck or regulatory domain.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CATGTTGATTGCAAAAGGATA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	77	78			NA	NA	15		NA											NA				72192062		2199	4297	6496	SO:0001587	stop_gained			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933	4649	4649		Myosins / Myosin superfamily : Class IX	7608	protein-coding gene	gene with protein product		604875			NA	10409426	Standard	NM_006901	NM_006901	NA	Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000564571.1:c.3436C>T	15.37:g.72192062G>A	ENSP00000456192:p.Gln1146*	NA	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	46|46	12.782160|12.782160	0.99696|0.99696	.|.	.|.	ENSG00000066933|ENSG00000066933	ENST00000261864|ENST00000356056;ENST00000424560;ENST00000444904	.|.	.|.	.|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|.	.|.	.|.	.|.	T|.	0.81814|.	0.4902|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.82153|.	-0.0598|.	4|.	0.10636|0.56958	T|D	0.68|0.05	.|.	20.0401|20.0401	0.97581|0.97581	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	1126|1146;1146;1127	.|.	ENSP00000261864:A1126V|ENSP00000348349:Q1146X	A|Q	-|-	2|1	0|0	MYO9A|MYO9A	69979116|69979116	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	8.263000|8.263000	0.89864|0.89864	2.805000|2.805000	0.96524|0.96524	0.655000|0.655000	0.94253|0.94253	GCA|CAA	MYO9A-015	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000420905.1		-	ENST00000564571.1	Nonsense_Mutation	SNP	15 : 72192062 - 72192062 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	426	78
TMEM14B	81853	broad.mit.edu	37	6	10751401	10751401	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10751401G>A	ENST00000467317.1	+	4	231	c.136G>A	c.(136-138)Ggc>Agc	p.G46S	TMEM14B_ENST00000379542.5_Missense_Mutation_p.G46S|TMEM14B_ENST00000475942.1_Missense_Mutation_p.G46S|TMEM14B_ENST00000481240.1_Intron|TMEM14B_ENST00000473276.1_Intron|TMEM14B_ENST00000491103.1_3'UTR|RP11-637O19.3_ENST00000480294.1_Intron|TMEM14B_ENST00000461342.1_Intron|SYCP2L_ENST00000543878.1_Intron|TMEM14B_ENST00000379530.3_Intron			Q9NUH8	TM14B_HUMAN	transmembrane protein 14B	46						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(2)|skin(2)	11	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)				GCTGCTCTTCGGCAGTCTAGC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	114	120			NA	NA	6		NA											NA				10751401		2202	4300	6502	SO:0001583	missense			AL024498	CCDS4515.1, CCDS47372.1, CCDS75395.1, CCDS75396.1, CCDS75397.1	6p25.1-p23	2008-08-12			ENSG00000137210	ENSG00000137210	81853	81853			21384	protein-coding gene	gene with protein product					NA		Standard	NM_030969	NM_030969	NA	Approved	MGC1223	uc003mzk.4	Q9NUH8	OTTHUMG00000014246	ENST00000467317.1:c.136G>A	6.37:g.10751401G>A	ENSP00000420658:p.Gly46Ser	NA	Q5THN8|Q96IX7|Q9BVN8	37		.	.	.	.	.	.	.	.	.	.	G	14.74	2.625308	0.46840	.	.	ENSG00000137210	ENST00000472062;ENST00000379542;ENST00000475942;ENST00000467317	T;T;T	0.66815	-0.23;-0.23;-0.23	4.01	3.14	0.36123	.	0.103324	0.64402	D	0.000003	T	0.63474	0.2514	M	0.70275	2.135	0.80722	D	1	P	0.51791	0.948	P	0.52267	0.694	T	0.67229	-0.5723	10	0.52906	T	0.07	.	11.473	0.50280	0.0903:0.0:0.9097:0.0	.	46	Q9NUH8	TM14B_HUMAN	S	46	ENSP00000368858:G46S;ENSP00000418730:G46S;ENSP00000420658:G46S	ENSP00000368858:G46S	G	+	1	0	TMEM14B	10859387	1.000000	0.71417	0.040000	0.18447	0.008000	0.06430	7.238000	0.78173	1.037000	0.40024	0.484000	0.47621	GGC	TMEM14B-020	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000353737.1		+	ENST00000467317.1	Missense_Mutation	SNP	6 : 10751401 - 10751401 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	10
JPH3	57338	broad.mit.edu	37	16	87677922	87677922	+	Silent	SNP	C	C	T	rs140115944	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87677922C>T	ENST00000284262.2	+	2	683	c.441C>T	c.(439-441)agC>agT	p.S147S		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	147					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		TCCGGCAGAGCGTCCCGTATG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4395	2.1+/-5.4	0,1,2197	51	53	52		441	-4	0.9	16	dbSNP_134	52	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	JPH3	NM_020655.2		0,2,6494	TT,TC,CC	NA	0.0116,0.0227,0.0154		147/749	87677922	2,12990	2198	4298	6496	SO:0001819	synonymous_variant			AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118	57338	57338			14203	protein-coding gene	gene with protein product		605268	trinucleotide repeat containing 22	TNRC22	NA	10949023, 10891348	Standard		NM_020655	NA	Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.441C>T	16.37:g.87677922C>T		NA	D3DUN2|Q8N471|Q9HDC3|Q9HDC4	37	CCDS10962.1																																																																																			JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269108.2		+	ENST00000284262.2	Silent	SNP	16 : 87677922 - 87677922 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	718	194
HIVEP3	59269	broad.mit.edu	37	1	41990569	41990569	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41990569G>A	ENST00000372584.1	-	5	6234	c.5220C>T	c.(5218-5220)aaC>aaT	p.N1740N	HIVEP3_ENST00000372583.1_Silent_p.N1740N|HIVEP3_ENST00000460604.1_Intron|HIVEP3_ENST00000429157.2_Silent_p.N1740N|HIVEP3_ENST00000247584.5_Silent_p.N1740N	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1740					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CATACTCTTCGTTTGATTTGT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	87	89			NA	NA	1		NA											NA				41990569		2203	4300	6503	SO:0001819	synonymous_variant			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124	59269	59269		Zinc fingers, C2H2-type	13561	protein-coding gene	gene with protein product	kappabinding protein-1	606649	human immunodeficiency virus type I enhancer-binding protein 3		NA	11161801	Standard	NM_024503	NR_038260	NA	Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372584.1:c.5220C>T	1.37:g.41990569G>A		NA	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	37	CCDS44124.1																																																																																			HIVEP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000016977.1		-	ENST00000372584.1	Silent	SNP	1 : 41990569 - 41990569 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	345	45
FLRT1	23769	broad.mit.edu	37	11	63884115	63884115	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63884115C>T	ENST00000246841.3	+	2	1419	c.376C>T	c.(376-378)Ccc>Tcc	p.P126S	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	98					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CATCAACCTGCCCCGCTCCCT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	51	52			NA	NA	11		NA											NA				63884115		2201	4297	6498	SO:0001583	missense			AF169675	CCDS8057.1	11q13.1	2014-03-03					23769	23769		Fibronectin type III domain containing	3760	protein-coding gene	gene with protein product		604806			NA	10644439, 24482476	Standard	NM_013280	NM_013280	NA	Approved	MGC21624, SPG68	uc001nyi.1	Q9NZU1		ENST00000246841.3:c.376C>T	11.37:g.63884115C>T	ENSP00000246841:p.Pro126Ser	NA	Q8WVA2	37	CCDS8057.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119384	0.77323	.	.	ENSG00000126500	ENST00000246841	T	0.02787	4.16	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.19886	0.0478	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00341	-1.1804	10	0.62326	D	0.03	-40.3267	18.3184	0.90229	0.0:1.0:0.0:0.0	.	98	Q9NZU1	FLRT1_HUMAN	S	126	ENSP00000246841:P126S	ENSP00000246841:P126S	P	+	1	0	FLRT1	63640691	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.765000	0.85310	2.619000	0.88677	0.561000	0.74099	CCC	FLRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396287.2		+	ENST00000246841.3	Missense_Mutation	SNP	11 : 63884115 - 63884115 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	264	55
RYR3	6263	broad.mit.edu	37	15	34137155	34137155	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34137155C>A	ENST00000389232.4	+	93	13459	c.13389C>A	c.(13387-13389)ttC>ttA	p.F4463L	RYR3_ENST00000415757.3_Missense_Mutation_p.F4458L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4463					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CGATGGTATTCTTTGTCCTTC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	145	147			NA	NA	15		NA											NA				34137155		1969	4156	6125	SO:0001583	missense				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838	6263	6263		Ion channels / Ryanodine receptors, EF-hand domain containing	10485	protein-coding gene	gene with protein product		180903			NA	8276408	Standard		NM_001036	NA	Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.13389C>A	15.37:g.34137155C>A	ENSP00000373884:p.Phe4463Leu	NA	O15175|Q15412	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894511	0.33442	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.92858	-3.12	5.24	5.24	0.73138	Ryanodine Receptor TM 4-6 (1);	0.339606	0.31495	N	0.007552	D	0.82870	0.5131	N	0.14661	0.345	0.37342	D	0.910447	B;B	0.23249	0.082;0.024	B;B	0.29524	0.058;0.103	T	0.77027	-0.2740	10	0.11182	T	0.66	.	9.4709	0.38842	0.0:0.8415:0.0:0.1585	.	4458;4463	Q15413-2;Q15413	.;RYR3_HUMAN	L	4463;4459	ENSP00000373884:F4463L	ENSP00000354735:F4459L	F	+	3	2	RYR3	31924447	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	0.828000	0.27435	2.884000	0.98904	0.655000	0.94253	TTC	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417514.1		+	ENST00000389232.4	Missense_Mutation	SNP	15 : 34137155 - 34137155 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	68
TRPC1	7220	broad.mit.edu	37	3	142522866	142522866	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142522866C>T	ENST00000273482.6	+	10	2094	c.1703C>T	c.(1702-1704)gCg>gTg	p.A568V	TRPC1_ENST00000476941.1_Missense_Mutation_p.A602V	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	602					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TTCTCCTTAGCGCATGTGGCA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	108	112			NA	NA	3		NA											NA				142522866		2203	4300	6503	SO:0001583	missense			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935	7220	7220		Voltage-gated ion channels / Transient receptor potential cation channels	12333	protein-coding gene	gene with protein product		602343			NA	7568191, 16382100	Standard	NM_003304	NM_001251845	NA	Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000273482.6:c.1703C>T	3.37:g.142522866C>T	ENSP00000273482:p.Ala568Val	NA	Q14CE4	37	CCDS3126.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115998	0.37339	.	.	ENSG00000144935	ENST00000476941;ENST00000273482;ENST00000416210	D;D	0.98567	-5.0;-5.0	5.33	5.33	0.75918	Ion transport (1);	0.051544	0.85682	D	0.000000	D	0.95906	0.8667	N	0.25789	0.76	0.80722	D	1	D;D;B	0.59767	0.966;0.986;0.132	P;P;B	0.51355	0.575;0.667;0.016	D	0.94098	0.7359	10	0.02654	T	1	-23.4818	14.266	0.66118	0.1489:0.8511:0.0:0.0	.	568;602;568	A7VJS2;P48995;P48995-2	.;TRPC1_HUMAN;.	V	602;568;121	ENSP00000419313:A602V;ENSP00000273482:A568V	ENSP00000273482:A568V	A	+	2	0	TRPC1	144005556	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	7.572000	0.82409	2.654000	0.90174	0.650000	0.86243	GCG	TRPC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354476.2		+	ENST00000273482.6	Missense_Mutation	SNP	3 : 142522866 - 142522866 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	245	43
DUSP27	92235	broad.mit.edu	37	1	167096291	167096291	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167096291G>A	ENST00000361200.2	+	6	2089	c.1923G>A	c.(1921-1923)caG>caA	p.Q641Q	DUSP27_ENST00000271385.5_Silent_p.Q641Q|DUSP27_ENST00000443333.1_Silent_p.Q641Q|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	641					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGGAGAGCCAGTCTATGGCAA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	37	38			NA	NA	1		NA											NA				167096291		2203	4300	6503	SO:0001819	synonymous_variant			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842	92235	92235			25034	protein-coding gene	gene with protein product					NA		Standard	NM_001080426	NM_001080426	NA	Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1923G>A	1.37:g.167096291G>A		NA	A0AUM4|Q9C074	37	CCDS30932.1																																																																																			DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083244.1		+	ENST00000361200.2	Silent	SNP	1 : 167096291 - 167096291 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	197	30
MDGA1	266727	broad.mit.edu	37	6	37605152	37605152	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:37605152G>A	ENST00000434837.3	-	17	4038	c.2860C>T	c.(2860-2862)Cag>Tag	p.Q954*	MDGA1_ENST00000297153.7_Nonsense_Mutation_p.Q958*	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	NA					brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CATCATCTCTGCAACGCCAAG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	45	43			NA	NA	6		NA											NA				37605152		2031	4172	6203	SO:0001587	stop_gained			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139	266727	266727		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	19267	protein-coding gene	gene with protein product		609626			NA	15922729, 15019943	Standard		NM_153487	NA	Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.2860C>T	6.37:g.37605152G>A	ENSP00000402584:p.Gln954*	NA	A6NHG0|Q8NBE3	37	CCDS47417.1	.	.	.	.	.	.	.	.	.	.	G	50	16.214899	0.99857	.	.	ENSG00000112139	ENST00000434837;ENST00000297153	.	.	.	4.77	3.88	0.44766	.	3.543960	0.00921	N	0.002591	.	.	.	.	.	.	0.24366	N	0.99486	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	12.8523	0.57864	0.0:0.1656:0.8344:0.0	.	.	.	.	X	954;958	.	ENSP00000297153:Q958X	Q	-	1	0	MDGA1	37713130	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	4.265000	0.58865	1.090000	0.41315	0.555000	0.69702	CAG	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040419.3		-	ENST00000434837.3	Nonsense_Mutation	SNP	6 : 37605152 - 37605152 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	393	18
DSC2	1824	broad.mit.edu	37	18	28672216	28672216	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28672216C>A	ENST00000280904.6	-	3	645	c.202G>T	c.(202-204)Gat>Tat	p.D68Y	DSC2_ENST00000251081.6_Missense_Mutation_p.D68Y	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	68					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AAGTCAGGATCACTTGAATGA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	66	66			NA	NA	18		NA											NA				28672216		2203	4300	6503	SO:0001583	missense			X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755	1824	1824		Cadherins / Major cadherins	3036	protein-coding gene	gene with protein product		125645		DSC3	NA	7774948	Standard	NM_004949	NM_024422	NA	Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.202G>T	18.37:g.28672216C>A	ENSP00000280904:p.Asp68Tyr	NA		37	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585829	0.66105	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000399347	T;T	0.57595	0.39;0.39	5.21	5.21	0.72293	Cadherin prodomain-like (1);Cadherin-like (1);	0.000000	0.33346	N	0.005008	T	0.71854	0.3389	M	0.81112	2.525	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.75238	-0.3388	10	0.87932	D	0	.	11.4042	0.49887	0.0:0.9153:0.0:0.0847	.	68;68	Q02487;Q02487-2	DSC2_HUMAN;.	Y	68	ENSP00000251081:D68Y;ENSP00000280904:D68Y	ENSP00000251081:D68Y	D	-	1	0	DSC2	26926214	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.418000	0.52721	2.607000	0.88179	0.455000	0.32223	GAT	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254943.1		-	ENST00000280904.6	Missense_Mutation	SNP	18 : 28672216 - 28672216 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	287	49
KIAA1009	0	broad.mit.edu	37	6	84870536	84870536	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84870536G>A	ENST00000403245.3	-	21	2890	c.2776C>T	c.(2776-2778)Cga>Tga	p.R926*	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Nonsense_Mutation_p.R850*	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN		926					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CATACTTGTCGCTCCAGATCC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	154	156			NA	NA	6		NA											NA				84870536		2202	4300	6502	SO:0001587	stop_gained											NA	NA			NA							NA					NA						ENST00000403245.3:c.2776C>T	6.37:g.84870536G>A	ENSP00000385215:p.Arg926*	NA	A6PVL7|A6PVL8|Q6P475|Q9Y2L2	37	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	G	42	9.529168	0.99196	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	.	.	.	5.87	4.01	0.46588	.	0.000000	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.9369	14.7397	0.69445	0.0:0.0:0.7178:0.2822	.	.	.	.	X	850;926	.	ENSP00000257766:R850X	R	-	1	2	KIAA1009	84927255	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.088000	0.50175	0.735000	0.32537	0.655000	0.94253	CGA	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317315.1		-	ENST00000403245.3	Nonsense_Mutation	SNP	6 : 84870536 - 84870536 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	406	40
ZNF184	7738	broad.mit.edu	37	6	27419782	27419782	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27419782T>C	ENST00000211936.6	-	6	1840	c.1556A>G	c.(1555-1557)cAg>cGg	p.Q519R	ZNF184_ENST00000377419.1_Missense_Mutation_p.Q519R	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTTCTGATGCTGATTAAGGTT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	74	74			NA	NA	6		NA											NA				27419782		2203	4299	6502	SO:0001583	missense			U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654	7738	7738		Zinc fingers, C2H2-type, -	12975	protein-coding gene	gene with protein product		602277	zinc finger protein 184 (Kruppel-like)		NA		Standard	NM_007149	NM_007149	NA	Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1556A>G	6.37:g.27419782T>C	ENSP00000211936:p.Gln519Arg	NA	B2R715|O60792|Q8TBA9	37	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	T	7.067	0.567513	0.13560	.	.	ENSG00000096654	ENST00000211936;ENST00000377419	T;T	0.07688	3.17;3.17	5.18	3.95	0.45737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46758	D	0.000265	T	0.01254	0.0041	N	0.11560	0.145	0.09310	N	1	B	0.17465	0.022	B	0.16289	0.015	T	0.48445	-0.9035	10	0.15952	T	0.53	.	8.1288	0.31014	0.2953:0.0:0.0:0.7047	.	519	Q99676	ZN184_HUMAN	R	519	ENSP00000211936:Q519R;ENSP00000366636:Q519R	ENSP00000211936:Q519R	Q	-	2	0	ZNF184	27527761	0.000000	0.05858	0.998000	0.56505	0.993000	0.82548	-1.950000	0.01530	2.176000	0.68965	0.482000	0.46254	CAG	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040146.1		-	ENST00000211936.6	Missense_Mutation	SNP	6 : 27419782 - 27419782 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	360	59
TMPRSS9	360200	broad.mit.edu	37	19	2389901	2389901	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2389901G>A	ENST00000332578.3	+	1	118	c.118G>A	c.(118-120)Gtc>Atc	p.V40I		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	40					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		CAGCCTTGTCGTCCTCACCCT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	117	89	98		118	-8.8	0	19		98	0,8600		0,0,4300	no	missense	TMPRSS9	NM_182973.1	29	0,2,6501	AA,AG,GG	NA	0.0,0.0454,0.0154	benign	40/1060	2389901	2,13004	2203	4300	6503	SO:0001583	missense			AJ488946	CCDS12088.1	19p13.3	2010-04-13					360200	360200		Serine peptidases / Transmembrane	30079	protein-coding gene	gene with protein product	polyserase 1	610477			NA	12886014	Standard	NM_182973	NM_182973	NA	Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.118G>A	19.37:g.2389901G>A	ENSP00000330264:p.Val40Ile	NA	Q6ZND6|Q7Z411	37	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	G	2.258	-0.369927	0.05069	4.54E-4	0.0	ENSG00000178297	ENST00000395264;ENST00000332578	D	0.87571	-2.27	4.39	-8.77	0.00827	.	2.144020	0.02082	N	0.052415	T	0.67730	0.2924	N	0.12182	0.205	0.09310	N	1	B;B	0.12630	0.002;0.006	B;B	0.04013	0.001;0.001	T	0.64618	-0.6365	10	0.02654	T	1	.	5.5426	0.17045	0.1342:0.1864:0.5873:0.0922	.	40;40	Q7Z410;E7EMP4	TMPS9_HUMAN;.	I	40	ENSP00000330264:V40I	ENSP00000330264:V40I	V	+	1	0	TMPRSS9	2340901	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-1.757000	0.01811	-3.156000	0.00229	-1.459000	0.01027	GTC	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451330.3		+	ENST00000332578.3	Missense_Mutation	SNP	19 : 2389901 - 2389901 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	420	62
FRY	10129	broad.mit.edu	37	13	32722003	32722003	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32722003T>G	ENST00000380250.3	+	13	1807	c.1311T>G	c.(1309-1311)ctT>ctG	p.L437L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	437					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCACAACACTTTTCCCCAAAG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	136	138			NA	NA	13		NA											NA				32722003		1845	4085	5930	SO:0001819	synonymous_variant			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910	10129	10129			20367	protein-coding gene	gene with protein product		614818	chromosome 13 open reading frame 14	C13orf14	NA	14702039, 8812419	Standard	NM_023037	NM_023037	NA	Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.1311T>G	13.37:g.32722003T>G		NA	Q9Y3N6	37	CCDS41875.1																																																																																			FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044405.1		+	ENST00000380250.3	Silent	SNP	13 : 32722003 - 32722003 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	575	94
MAP9	79884	broad.mit.edu	37	4	156296174	156296174	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156296174C>T	ENST00000311277.4	-	3	339		c.e3-1		AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000515654.1_Splice_Site|MAP9_ENST00000379248.2_Splice_Site	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	NA					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TTAGCTCATCCTGAAATGAGA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	120	124			NA	NA	4		NA											NA				156296174		2203	4300	6503	SO:0001630	splice_region_variant			AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114	79884	79884			26118	protein-coding gene	gene with protein product	aster-associated protein	610070			NA	16049101	Standard	NM_001039580	XM_006714306	NA	Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.76-1G>A	4.37:g.156296174C>T		NA	Q4W5I7|Q68DU1|Q9H781|Q9H7B6	37	CCDS35493.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.708525	0.68615	.	.	ENSG00000164114	ENST00000311277;ENST00000515654;ENST00000433024;ENST00000393836;ENST00000450097	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2752	0.66175	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAP9	156515624	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.637000	0.46553	2.428000	0.82296	0.655000	0.94253	.	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257771.3	Intron	-	ENST00000311277.4	Splice_Site	SNP	4 : 156296174 - 156296174 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	267	30
RAD54L	8438	broad.mit.edu	37	1	46743903	46743903	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46743903C>T	ENST00000371975.4	+	18	2867	c.2193C>T	c.(2191-2193)atC>atT	p.I731I	RAD54L_ENST00000442598.1_Silent_p.I731I	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	731					meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CCACTGCCATCACCTTCGTCT	0.587		NA						Direct reversal of damage;Homologous recombination						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	34	35			NA	NA	1		NA											NA				46743903		2203	4300	6503	SO:0001819	synonymous_variant			X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999	8438	8438			9826	protein-coding gene	gene with protein product		603615	RAD54 (S.cerevisiae)-like		NA	8805304	Standard	NM_003579	NM_003579	NA	Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.2193C>T	1.37:g.46743903C>T		NA	Q5TE31|Q6IUY3	37	CCDS532.1																																																																																			RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021272.1		+	ENST00000371975.4	Silent	SNP	1 : 46743903 - 46743903 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	158	35
MOV10L1	54456	broad.mit.edu	37	22	50564678	50564678	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50564678G>A	ENST00000262794.5	+	12	1878	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K	MOV10L1_ENST00000540615.1_Missense_Mutation_p.E579K|MOV10L1_ENST00000545383.1_Missense_Mutation_p.E599K|MOV10L1_ENST00000395858.3_Missense_Mutation_p.E599K|MOV10L1_ENST00000395843.1_5'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	599					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	p.E599K(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		ACATGCCATCGAATACATCAG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											123	102	109			NA	NA	22		NA											NA				50564678		2203	4300	6503	SO:0001583	missense			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146	54456	54456			7201	protein-coding gene	gene with protein product	cardiac helicase activated by MEF2C protein	605794	Mov10 (mouse)-like 1, Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)		NA	11279525	Standard	NM_018995	NM_018995	NA	Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.1795G>A	22.37:g.50564678G>A	ENSP00000262794:p.Glu599Lys	NA	B7WPP1|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	37	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690276	0.68271	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;T;D	0.85629	-1.82;-1.82;-1.41;-2.01	5.46	5.46	0.80206	.	0.098399	0.64402	D	0.000002	D	0.87083	0.6089	L	0.58669	1.825	0.80722	D	1	D;D;D;D	0.71674	0.998;0.994;0.98;0.98	P;P;B;B	0.56788	0.806;0.64;0.436;0.436	D	0.83584	0.0119	10	0.17369	T	0.5	-39.1041	12.5473	0.56208	0.0:0.1675:0.8325:0.0	.	360;579;599;599	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	K	599;599;599;579	ENSP00000438978:E599K;ENSP00000262794:E599K;ENSP00000379199:E599K;ENSP00000438542:E579K	ENSP00000262794:E599K	E	+	1	0	MOV10L1	48906805	1.000000	0.71417	0.890000	0.34922	0.929000	0.56500	4.187000	0.58344	2.542000	0.85734	0.655000	0.94253	GAA	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075009.2		+	ENST00000262794.5	Missense_Mutation	SNP	22 : 50564678 - 50564678 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	57
PNPLA1	285848	broad.mit.edu	37	6	36262089	36262089	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36262089C>T	ENST00000312917.5	+	4	508	c.369C>T	c.(367-369)caC>caT	p.H123H	PNPLA1_ENST00000394571.2_Silent_p.H209H|PNPLA1_ENST00000388715.3_Silent_p.H114H			Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	209	Patatin.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CCATCTTCCACGACTTCCGCA	0.622		NA											C	4	0.0018	NA	NA	2184	0.01	0.9999	,	,	NA	4e-04	NA	NA	NA	0.0019	0.9767	LOWCOV,EXOME	NA	NA	7e-04	SNP								NA				0													103	83	90			NA	NA	6		NA											NA				36262089		2203	4300	6503	SO:0001819	synonymous_variant				CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316	285848	285848		Patatin-like phospholipase domain containing	21246	protein-coding gene	gene with protein product		612121			NA	16799181, 19029121	Standard	NM_173676	NM_001145717	NA	Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000312917.5:c.369C>T	6.37:g.36262089C>T		NA	A3RMU3|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	37	CCDS47416.1																																																																																			PNPLA1-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280647.1		+	ENST00000312917.5	Silent	SNP	6 : 36262089 - 36262089 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	459	83
IGF2BP1	10642	broad.mit.edu	37	17	47115652	47115652	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47115652G>A	ENST00000290341.3	+	6	858	c.524G>A	c.(523-525)gGt>gAt	p.G175D	IGF2BP1_ENST00000431824.2_Intron	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	175					CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGCTCTCGGGGTCAGCCCCGC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(198;1041 2123 8248 37119 38268)							NA				0													30	36	34			NA	NA	17		NA											NA				47115652		2203	4300	6503	SO:0001583	missense			AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217	10642	10642		RNA binding motif (RRM) containing	28866	protein-coding gene	gene with protein product	IGF II mRNA binding protein 1	608288			NA	9891060, 11992722	Standard	NM_006546	NM_001160423	NA	Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.524G>A	17.37:g.47115652G>A	ENSP00000290341:p.Gly175Asp	NA		37	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785170	0.90282	.	.	ENSG00000159217	ENST00000290341	T	0.21361	2.01	5.55	5.55	0.83447	.	0.061482	0.64402	D	0.000005	T	0.32406	0.0828	M	0.66939	2.045	0.80722	D	1	P	0.48640	0.913	P	0.48030	0.564	T	0.04333	-1.0959	10	0.15952	T	0.53	-6.896	19.0998	0.93269	0.0:0.0:1.0:0.0	.	175	Q9NZI8	IF2B1_HUMAN	D	175	ENSP00000290341:G175D	ENSP00000290341:G175D	G	+	2	0	IGF2BP1	44470651	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.565000	0.73974	2.585000	0.87301	0.655000	0.94253	GGT	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364046.1		+	ENST00000290341.3	Missense_Mutation	SNP	17 : 47115652 - 47115652 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	401	81
PDE3B	5140	broad.mit.edu	37	11	14880590	14880590	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14880590C>T	ENST00000282096.4	+	13	2875	c.2522C>T	c.(2521-2523)gCa>gTa	p.A841V	PDE3B_ENST00000455098.2_Splice_Site_p.A790V	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	841	Catalytic (By similarity).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCTTTTTAGGCAGTTTTATAC	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	89	90			NA	NA	11		NA											NA				14880590		2200	4294	6494	SO:0001630	splice_region_variant			U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	5140	5140	3.1.4.17	Phosphodiesterases	8779	protein-coding gene	gene with protein product		602047			NA	8884271, 16395595	Standard	NM_000922	NM_000922	NA	Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.2521-1C>T	11.37:g.14880590C>T		NA	O00639|Q14408|Q6SEI4	37	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	C	33	5.258912	0.95368	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	D;D	0.84944	-1.92;-1.92	5.67	5.67	0.87782	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.95503	0.8539	H	0.96777	3.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96590	0.9437	10	0.87932	D	0	.	19.7714	0.96367	0.0:1.0:0.0:0.0	.	790;841	B7ZM37;Q13370	.;PDE3B_HUMAN	V	841;790	ENSP00000282096:A841V;ENSP00000388644:A790V	ENSP00000282096:A841V	A	+	2	0	PDE3B	14837166	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.487000	0.81328	2.666000	0.90696	0.655000	0.94253	GCA	PDE3B-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386974.1	Missense_Mutation	+	ENST00000282096.4	Splice_Site	SNP	11 : 14880590 - 14880590 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	421	70
RBM28	55131	broad.mit.edu	37	7	127954833	127954833	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127954833G>A	ENST00000223073.2	-	17	2143	c.2029C>T	c.(2029-2031)Cga>Tga	p.R677*	RBM28_ENST00000481788.1_5'UTR|RBM28_ENST00000415472.2_Nonsense_Mutation_p.R536*	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	NA					mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TTGGGGCCTCGGTGTGAGGGG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	164	162			NA	NA	7		NA											NA				127954833		2203	4300	6503	SO:0001587	stop_gained			AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344	55131	55131		RNA binding motif (RRM) containing	21863	protein-coding gene	gene with protein product		612074			NA		Standard	NM_018077	NM_018077	NA	Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.2029C>T	7.37:g.127954833G>A	ENSP00000223073:p.Arg677*	NA	A4D100|Q53H65|Q96CV3	37	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	G	41	8.805438	0.98960	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	.	.	.	6.17	6.17	0.99709	.	0.140158	0.48767	D	0.000171	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-8.5118	13.211	0.59825	0.0:0.0:0.8411:0.1589	.	.	.	.	X	677;536	.	ENSP00000223073:R677X	R	-	1	2	RBM28	127742069	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.949000	0.56668	2.941000	0.99782	0.655000	0.94253	CGA	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349442.2		-	ENST00000223073.2	Nonsense_Mutation	SNP	7 : 127954833 - 127954833 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1272	185
CUL7	9820	broad.mit.edu	37	6	43006154	43006154	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43006154G>A	ENST00000265348.3	-	25	4709	c.4624C>T	c.(4624-4626)Cgg>Tgg	p.R1542W	CUL7_ENST00000535468.1_Missense_Mutation_p.R1626W			Q14999	CUL7_HUMAN	cullin 7	1542					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGGATGAGCCGCACAATGTCC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	119	104	109		4876,4624	2.8	1	6		109	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	CUL7	NM_001168370.1,NM_014780.4	101,101	0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154	benign,benign	1626/1783,1542/1699	43006154	2,13004	2203	4300	6503	SO:0001583	missense			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090	9820	9820			21024	protein-coding gene	gene with protein product		609577	KIAA0076	KIAA0076	NA	12481031, 12904573	Standard	NM_014780	NM_014780	NA	Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.4624C>T	6.37:g.43006154G>A	ENSP00000265348:p.Arg1542Trp	NA	Q5T654	37	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284334	0.23392	0.0	2.33E-4	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.79554	-1.28;-1.28	5.18	2.85	0.33270	Cullin homology (1);	0.596147	0.19181	N	0.120665	T	0.23688	0.0573	N	0.01048	-1.04	0.30040	N	0.812671	B;B;B;B	0.11235	0.001;0.004;0.001;0.001	B;B;B;B	0.06405	0.001;0.002;0.002;0.002	T	0.14254	-1.0479	10	0.16420	T	0.52	-8.6898	3.0282	0.06098	0.5254:0.0:0.2822:0.1924	.	1626;1542;1626;1542	F5H0L1;A8K9U1;B4DYZ0;Q14999	.;.;.;CUL7_HUMAN	W	1542;1626	ENSP00000265348:R1542W;ENSP00000438788:R1626W	ENSP00000265348:R1542W	R	-	1	2	CUL7	43114132	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	0.931000	0.28871	0.819000	0.34492	-0.302000	0.09304	CGG	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040575.1		-	ENST00000265348.3	Missense_Mutation	SNP	6 : 43006154 - 43006154 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	407	79
AACS	65985	broad.mit.edu	37	12	125576018	125576018	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125576018G>A	ENST00000316519.6	+	5	725	c.519G>A	c.(517-519)gcG>gcA	p.A173A	AACS_ENST00000261686.6_Silent_p.A173A	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	173					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TGCTGGCTGCGGCAAGCATTG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	79	85			NA	NA	12		NA											NA				125576018		2203	4300	6503	SO:0001819	synonymous_variant			AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	65985	65985	6.2.1.16	Acyl-CoA synthetase family	21298	protein-coding gene	gene with protein product	acyl-CoA synthetase family member 1	614364			NA	12623130, 17762044	Standard	NM_023928	NM_023928	NA	Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.519G>A	12.37:g.125576018G>A		NA	Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	37	CCDS9263.1																																																																																			AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400202.1		+	ENST00000316519.6	Silent	SNP	12 : 125576018 - 125576018 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	369	73
BPTF	2186	broad.mit.edu	37	17	65905755	65905755	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65905755G>A	ENST00000306378.6	+	10	2930	c.2870G>A	c.(2869-2871)aGt>aAt	p.S957N	BPTF_ENST00000335221.5_Missense_Mutation_p.S1083N|BPTF_ENST00000321892.4_Missense_Mutation_p.S1083N|BPTF_ENST00000424123.3_Missense_Mutation_p.S944N	NM_182641.3	NP_872579.2	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1083					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGTTCACGAAGTCCAAAAAAA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	43	42			NA	NA	17		NA											NA				65905755		2201	4299	6500	SO:0001583	missense			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634	2186	2186		Zinc fingers, PHD-type	3581	protein-coding gene	gene with protein product		601819	fetal Alzheimer antigen	FALZ	NA	8975731, 10662542, 16728976	Standard	NM_182641, NM_004459	NM_182641	NA	Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000306378.6:c.2870G>A	17.37:g.65905755G>A	ENSP00000307208:p.Ser957Asn	NA	Q6NX67|Q7Z7D6|Q9UIG2	37	CCDS11673.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053760	0.36277	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.63255	-0.02;-0.03;-0.02	5.55	5.55	0.83447	.	.	.	.	.	T	0.63651	0.2529	L	0.29908	0.895	0.32590	N	0.527265	P;D	0.56035	0.955;0.974	P;P	0.56216	0.718;0.794	T	0.65635	-0.6120	9	0.31617	T	0.26	-13.4805	14.8729	0.70471	0.0:0.0:1.0:0.0	.	957;1083	Q12830-2;Q12830-4	.;.	N	957;1083;1083	ENSP00000307208:S957N;ENSP00000334351:S1083N;ENSP00000315454:S1083N	ENSP00000307208:S957N	S	+	2	0	BPTF	63336217	1.000000	0.71417	1.000000	0.80357	0.293000	0.27360	4.235000	0.58666	2.885000	0.99019	0.655000	0.94253	AGT	BPTF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255334.2		+	ENST00000306378.6	Missense_Mutation	SNP	17 : 65905755 - 65905755 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	156	29
ABCA4	24	broad.mit.edu	37	1	94471006	94471006	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94471006T>G	ENST00000370225.3	-	44	6224	c.6138A>C	c.(6136-6138)gaA>gaC	p.E2046D	ABCA4_ENST00000465352.1_5'UTR|ABCA4_ENST00000535881.1_Missense_Mutation_p.E165D|ABCA4_ENST00000536513.1_Missense_Mutation_p.E316D	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2046	ABC transporter 2.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCTTTTCGATTTCTTCTGCTG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	114	114			NA	NA	1		NA											NA				94471006		2203	4300	6503	SO:0001583	missense			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691	24	24		ATP binding cassette transporters / subfamily A	34	protein-coding gene	gene with protein product	Stargardt disease	601691	ATP-binding cassette transporter, retinal-specific	STGD1, ABCR, RP19, STGD	NA	9490294	Standard	NM_000350	NM_000350	NA	Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.6138A>C	1.37:g.94471006T>G	ENSP00000359245:p.Glu2046Asp	NA	O15112|O60438|O60915|Q4LE31	37	CCDS747.1	.	.	.	.	.	.	.	.	.	.	T	5.129	0.209488	0.09757	.	.	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513;ENST00000535881	D;D;D	0.94376	-3.41;-3.41;-3.41	5.63	1.82	0.25136	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.153113	0.56097	D	0.000022	T	0.72112	0.3420	N	0.20766	0.605	0.80722	D	1	B;B	0.10296	0.002;0.003	B;B	0.17979	0.003;0.02	T	0.62618	-0.6816	10	0.12103	T	0.63	.	4.9251	0.13889	0.1166:0.0655:0.1216:0.6963	.	165;2046	B4DX12;P78363	.;ABCA4_HUMAN	D	838;2046;316;165	ENSP00000359245:E2046D;ENSP00000439707:E316D;ENSP00000443203:E165D	ENSP00000359245:E2046D	E	-	3	2	ABCA4	94243594	1.000000	0.71417	0.912000	0.35992	0.186000	0.23388	1.500000	0.35682	0.500000	0.27991	0.533000	0.62120	GAA	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029320.1		-	ENST00000370225.3	Missense_Mutation	SNP	1 : 94471006 - 94471006 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	529	109
ERCC4	2072	broad.mit.edu	37	16	14022092	14022092	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14022092G>T	ENST00000311895.7	+	4	801	c.792G>T	c.(790-792)aaG>aaT	p.K264N	ERCC4_ENST00000574781.1_3'UTR|ERCC4_ENST00000575156.1_Splice_Site_p.K264N	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	264					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						CTTTTGACAAGGTACTCTTTT	0.284		NA	Mis, N, F			skin basal cell, skin squamous cell, melanoma		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	excision repair cross-complementing rodent repair deficiency, complementation group 4		E	0													59	60	60			NA	NA	16		NA											NA				14022092		2197	4300	6497	SO:0001630	splice_region_variant	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595	2072	2072			3436	protein-coding gene	gene with protein product	xeroderma pigmentosum, complementation group F	133520	excision repair cross-complementing rodent repair deficiency, complementation group 4	XPF	NA	9579555, 8887684	Standard	NM_005236	NM_005236	NA	Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.792+1G>T	16.37:g.14022092G>T		NA	A8K111|O00140|Q8TD83	37	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616793	0.66672	.	.	ENSG00000175595	ENST00000311895;ENST00000439007;ENST00000389138	T	0.66280	-0.2	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.78168	0.4241	M	0.83312	2.635	0.80722	D	1	P;D	0.56035	0.687;0.974	B;P	0.55615	0.259;0.78	T	0.76751	-0.2844	10	0.41790	T	0.15	-34.8801	19.8676	0.96824	0.0:0.0:1.0:0.0	.	264;264	A5PKV6;Q92889	.;XPF_HUMAN	N	264;253;253	ENSP00000310520:K264N	ENSP00000310520:K264N	K	+	3	2	ERCC4	13929593	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.247000	0.78257	2.941000	0.99782	0.655000	0.94253	AAG	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109634.2	Missense_Mutation	+	ENST00000311895.7	Splice_Site	SNP	16 : 14022092 - 14022092 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	248	42
SLITRK3	22865	broad.mit.edu	37	3	164906811	164906811	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164906811C>T	ENST00000475390.1	-	2	2251	c.1808G>A	c.(1807-1809)cGc>cAc	p.R603H	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R603H			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	603	LRRCT 2.					integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTCAATAGTGCGCACATCACG	0.547		NA								HNSCC(40;0.11)			C	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	4e-04	0.95	EXOME	NA	NA	0.001	SNP								NA				0													69	64	66			NA	NA	3		NA											NA				164906811		2203	4300	6503	SO:0001583	missense			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871	22865	22865			23501	protein-coding gene	gene with protein product		609679			NA	10048485, 14557068	Standard	NM_014926	NM_014926	NA	Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1808G>A	3.37:g.164906811C>T	ENSP00000420091:p.Arg603His	NA	Q1RMY6	37	CCDS3197.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.60	2.584322	0.46110	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.53206	0.63;0.63	5.7	5.7	0.88788	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.38436	N	0.001697	T	0.70692	0.3253	M	0.90019	3.08	0.48571	D	0.999676	D	0.76494	0.999	P	0.61722	0.893	T	0.76438	-0.2959	10	0.87932	D	0	-16.8764	13.0864	0.59142	0.0:0.9257:0.0:0.0743	.	603	O94933	SLIK3_HUMAN	H	603	ENSP00000420091:R603H;ENSP00000241274:R603H	ENSP00000241274:R603H	R	-	2	0	SLITRK3	166389505	0.999000	0.42202	0.998000	0.56505	0.383000	0.30230	3.207000	0.51106	2.836000	0.97738	0.655000	0.94253	CGC	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350126.1		-	ENST00000475390.1	Missense_Mutation	SNP	3 : 164906811 - 164906811 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	260	48
HIC2	23119	broad.mit.edu	37	22	21800714	21800714	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21800714C>T	ENST00000443632.2	+	2	1902	c.1530C>T	c.(1528-1530)tgC>tgT	p.C510C	HIC2_ENST00000407464.2_Silent_p.C510C|HIC2_ENST00000407598.2_Silent_p.C510C			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	510					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GTTCGGTCTGCGAGAAGACCT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(23;437 858 2282 27947 40366)							NA				0													46	48	48			NA	NA	22		NA											NA				21800714		2203	4300	6503	SO:0001819	synonymous_variant			AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635	23119	23119		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	18595	protein-coding gene	gene with protein product		607712			NA	11554746	Standard		NM_015094	NA	Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.1530C>T	22.37:g.21800714C>T		NA	Q504T6|Q96KR3|Q9NSM9|Q9UPX9	37	CCDS13789.1																																																																																			HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320061.2		+	ENST00000443632.2	Silent	SNP	22 : 21800714 - 21800714 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	433	65
TTLL11	158135	broad.mit.edu	37	9	124751937	124751937	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124751937C>T	ENST00000373776.3	-	4	1263	c.1076G>A	c.(1075-1077)cGc>cAc	p.R359H	TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000321582.5_Missense_Mutation_p.R359H	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	359	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						CCCTGCCAGGCGGATGTCACT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	95	101	99		1076,1076	5.1	1	9		99	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	TTLL11	NM_001139442.1,NM_194252.2	29,29	0,3,6500	TT,TC,CC	NA	0.0233,0.0227,0.0231	possibly-damaging,possibly-damaging	359/801,359/539	124751937	3,13003	2203	4300	6503	SO:0001583	missense			AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764	158135	158135		Tubulin tyrosine ligase-like family	18113	protein-coding gene	gene with protein product			chromosome 9 open reading frame 20	C9orf20	NA	15890843	Standard	XM_088486	NM_001139442	NA	Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.1076G>A	9.37:g.124751937C>T	ENSP00000362881:p.Arg359His	NA		37	CCDS6834.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037292	0.75617	2.27E-4	2.33E-4	ENSG00000175764	ENST00000321582;ENST00000373776	T;T	0.05513	3.43;3.43	5.12	5.12	0.69794	.	0.073650	0.50627	D	0.000112	T	0.11495	0.0280	L	0.51422	1.61	0.53688	D	0.999979	P;P	0.49090	0.868;0.919	B;P	0.45681	0.294;0.49	T	0.01743	-1.1283	10	0.51188	T	0.08	.	17.5595	0.87902	0.0:1.0:0.0:0.0	.	359;359	F8W6M1;Q8NHH1	.;TTL11_HUMAN	H	359	ENSP00000321346:R359H;ENSP00000362881:R359H	ENSP00000321346:R359H	R	-	2	0	TTLL11	123791758	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.584000	0.60971	2.391000	0.81399	0.555000	0.69702	CGC	TTLL11-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053907.1		-	ENST00000373776.3	Missense_Mutation	SNP	9 : 124751937 - 124751937 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	731	120
ABL1	25	broad.mit.edu	37	9	133755491	133755491	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133755491C>A	ENST00000318560.5	+	9	1841	c.1460C>A	c.(1459-1461)gCt>gAt	p.A487D		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	487	Protein kinase.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CCCTCCTTTGCTGAAATCCAC	0.532		NA	T, Mis	BCR, ETV6, NUP214	CML, ALL, T-ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	0													114	109	111			NA	NA	9		NA											NA				133755491		2203	4300	6503	SO:0001583	missense			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007	25	25		SH2 domain containing	76	protein-coding gene	gene with protein product		189980	v-abl Abelson murine leukemia viral oncogene homolog 1, c-abl oncogene 1, receptor tyrosine kinase, c-abl oncogene 1, non-receptor tyrosine kinase	ABL	NA	1857987, 12626632	Standard	NM_007313	NM_007313	NA	Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1460C>A	9.37:g.133755491C>A	ENSP00000323315:p.Ala487Asp	NA	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	37	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400895	0.83120	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	D;D	0.82893	-1.66;-1.66	5.87	5.87	0.94306	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78413	0.4279	L	0.39898	1.24	0.80722	D	1	P;P	0.45672	0.864;0.864	B;B	0.39258	0.295;0.295	T	0.78157	-0.2313	10	0.37606	T	0.19	.	19.2063	0.93732	0.0:1.0:0.0:0.0	.	487;524	P00519;Q59FK4	ABL1_HUMAN;.	D	302;506;487	ENSP00000361423:A506D;ENSP00000323315:A487D	ENSP00000323315:A487D	A	+	2	0	ABL1	132745312	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.726000	0.84824	2.785000	0.95823	0.655000	0.94253	GCT	ABL1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054684.1		+	ENST00000318560.5	Missense_Mutation	SNP	9 : 133755491 - 133755491 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	570	88
MED14	9282	broad.mit.edu	37	X	40522271	40522271	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:40522271C>T	ENST00000324817.1	-	26	3708	c.3590G>A	c.(3589-3591)gGc>gAc	p.G1197D		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1197					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACCTGCCAGGCCGGGCACAAG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	81	88			NA	NA	X		NA											NA				40522271		2203	4300	6503	SO:0001583	missense			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182	9282	9282			2370	protein-coding gene	gene with protein product		300182	cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa	CXorf4, CRSP2	NA	9989412, 9598311	Standard	NM_004229	NM_004229	NA	Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.3590G>A	X.37:g.40522271C>T	ENSP00000323720:p.Gly1197Asp	NA	Q4KMR7|Q9UNB3	37	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009936	0.54361	.	.	ENSG00000180182	ENST00000324817;ENST00000433003	T;T	0.54071	0.59;0.59	5.59	5.59	0.84812	.	0.048785	0.85682	D	0.000000	T	0.47838	0.1467	L	0.36672	1.1	0.80722	D	1	P;P	0.45348	0.856;0.856	B;B	0.43623	0.425;0.425	T	0.52403	-0.8580	10	0.66056	D	0.02	.	14.2586	0.66070	0.0:0.8553:0.1447:0.0	.	1197;1197	A8KAK5;O60244	.;MED14_HUMAN	D	1197;96	ENSP00000323720:G1197D;ENSP00000411357:G96D	ENSP00000323720:G1197D	G	-	2	0	MED14	40407215	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	5.696000	0.68287	2.353000	0.79882	0.529000	0.55759	GGC	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060692.1		-	ENST00000324817.1	Missense_Mutation	SNP	X : 40522271 - 40522271 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	120	32
KCNH7	90134	broad.mit.edu	37	2	163693155	163693155	+	Missense_Mutation	SNP	C	C	T	rs138091231		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163693155C>T	ENST00000332142.5	-	2	298	c.199G>A	c.(199-201)Gac>Aac	p.D67N	KCNH7_ENST00000328032.4_Missense_Mutation_p.D67N	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	67	PAS.				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TGGAGAAAGTCGCAGGTGCAT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(196;1492 2208 17507 24132 45496)							NA				0								C	ASN/ASP,ASN/ASP	0,4406		0,0,2203	96	80	85		199,199	5.9	1	2	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KCNH7	NM_033272.3,NM_173162.2	23,23	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging	67/1197,67/733	163693155	1,13005	2203	4300	6503	SO:0001583	missense			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611	90134	90134		Potassium channels, Voltage-gated ion channels / Potassium channels	18863	protein-coding gene	gene with protein product		608169			NA	16382104	Standard	NM_033272	NM_173162	NA	Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.199G>A	2.37:g.163693155C>T	ENSP00000331727:p.Asp67Asn	NA	Q53QU4|Q53TB7|Q53TP9|Q8IV15	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	35	5.479148	0.96307	0.0	1.16E-4	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.99563	-6.17;-6.17	5.87	5.87	0.94306	PAS fold-3 (1);PAS (2);	0.000000	0.85682	D	0.000000	D	0.99077	0.9683	L	0.46741	1.465	0.58432	D	0.999997	P;P	0.42483	0.781;0.477	B;P	0.48270	0.307;0.572	D	0.99880	1.1112	10	0.52906	T	0.07	.	19.1942	0.93681	0.0:1.0:0.0:0.0	.	67;67	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	N	67	ENSP00000331727:D67N;ENSP00000333781:D67N	ENSP00000333781:D67N	D	-	1	0	KCNH7	163401401	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	4.913000	0.63341	2.785000	0.95823	0.655000	0.94253	GAC	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255093.1		-	ENST00000332142.5	Missense_Mutation	SNP	2 : 163693155 - 163693155 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	291	76
NETO1	81832	broad.mit.edu	37	18	70461430	70461430	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:70461430T>G	ENST00000327305.6	-	6	1218	c.561A>C	c.(559-561)caA>caC	p.Q187H	NETO1_ENST00000583169.1_Missense_Mutation_p.Q187H|NETO1_ENST00000299430.2_Missense_Mutation_p.Q186H	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	187	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CCTTCATAATTTGTATAGACT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	127	131			NA	NA	18		NA											NA				70461430		2203	4300	6503	SO:0001583	missense			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342	81832	81832			13823	protein-coding gene	gene with protein product		607973			NA	11943477, 12810072	Standard	NM_138999	NM_138999	NA	Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.561A>C	18.37:g.70461430T>G	ENSP00000313088:p.Gln187His	NA	Q86W85|Q8ND78|Q8TDF4	37	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	T	16.92	3.254677	0.59212	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.39592	1.07;1.07	5.29	-3.05	0.05396	CUB (4);	0.000000	0.56097	D	0.000026	T	0.58264	0.2110	M	0.76838	2.35	0.80722	D	1	D;D	0.76494	0.994;0.999	D;D	0.78314	0.991;0.981	T	0.60662	-0.7219	10	0.66056	D	0.02	-13.7615	11.5235	0.50565	0.0:0.4964:0.0:0.5036	.	186;187	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	H	187;186	ENSP00000313088:Q187H;ENSP00000299430:Q186H	ENSP00000299430:Q186H	Q	-	3	2	NETO1	68612410	0.627000	0.27129	0.727000	0.30756	0.741000	0.42261	-0.207000	0.09384	-0.588000	0.05882	-0.256000	0.11100	CAA	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256301.2		-	ENST00000327305.6	Missense_Mutation	SNP	18 : 70461430 - 70461430 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	493	88
SMARCAL1	50485	broad.mit.edu	37	2	217285073	217285073	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217285073C>T	ENST00000357276.4	+	5	1244	c.914C>T	c.(913-915)gCc>gTc	p.A305V	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.A305V	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	305					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CTGGAATGGGCCTATGGCAGC	0.557		NA							Schimke Immuno-Osseous Dysplasia					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	54	58			NA	NA	2		NA											NA				217285073		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	SIOD	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375	50485	50485			11102	protein-coding gene	gene with protein product	HepA-related protein, ATP-driven annealing helicase	606622			NA	10713074, 10857751, 18974355	Standard		NM_014140	NA	Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.914C>T	2.37:g.217285073C>T	ENSP00000349823:p.Ala305Val	NA	A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	37	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.275953	0.23307	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000427645;ENST00000392128;ENST00000412913	D;D;T;D;T	0.85339	-1.97;-1.97;1.56;-1.97;0.72	4.64	2.32	0.28847	.	0.819538	0.11443	N	0.563539	T	0.74733	0.3755	L	0.40543	1.245	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.55860	-0.8074	10	0.15499	T	0.54	-5.0496	4.8631	0.13594	0.1799:0.6625:0.0:0.1575	.	305	Q9NZC9	SMAL1_HUMAN	V	305;305;204;169;25	ENSP00000349823:A305V;ENSP00000350940:A305V;ENSP00000392997:A204V;ENSP00000375974:A169V;ENSP00000390248:A25V	ENSP00000349823:A305V	A	+	2	0	SMARCAL1	216993318	0.000000	0.05858	0.006000	0.13384	0.235000	0.25334	-0.040000	0.12104	0.327000	0.23409	0.561000	0.74099	GCC	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256671.2		+	ENST00000357276.4	Missense_Mutation	SNP	2 : 217285073 - 217285073 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	259	60
RPS6KB2	6199	broad.mit.edu	37	11	67196455	67196455	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67196455C>T	ENST00000312629.5	+	2	126	c.81C>T	c.(79-81)gaC>gaT	p.D27D	RPS6KB2_ENST00000539188.1_Silent_p.D27D|RPS6KB2_ENST00000524814.1_3'UTR	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	27					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TCTCACAGGACGCATGTCCCC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4085		0,1,2042	75	78	77		81	1.9	1	11		77	0,8332		0,0,4166	no	coding-synonymous	RPS6KB2	NM_003952.2		0,1,6208	TT,TC,CC	NA	0.0,0.0245,0.0081		27/483	67196455	1,12417	2043	4166	6209	SO:0001819	synonymous_variant			AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634	6199	6199			10437	protein-coding gene	gene with protein product		608939	ribosomal protein S6 kinase, 70kD, polypeptide 2		NA	9878560, 9804755	Standard	NM_003952	XM_005274164	NA	Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.81C>T	11.37:g.67196455C>T		NA	B2RMZ9|O94809|Q9UEC1	37	CCDS41677.1																																																																																			RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395508.1		+	ENST00000312629.5	Silent	SNP	11 : 67196455 - 67196455 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	58
MGA	23269	broad.mit.edu	37	15	42058209	42058209	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42058209C>T	ENST00000570161.1	+	23	7929	c.7929C>T	c.(7927-7929)gaC>gaT	p.D2643D	MGA_ENST00000566586.1_Silent_p.D2434D|MGA_ENST00000545763.1_Silent_p.D2434D|MGA_ENST00000389936.4_Silent_p.D2604D|MGA_ENST00000219905.7_Silent_p.D2643D			Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2604						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CAGAAAATGACGACTTATTTA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	0,3640		0,0,1820	69	65	66		7302,7929	-1	1	15		66	1,8165		0,1,4082	no	coding-synonymous,coding-synonymous	MGA	NM_001080541.2,NM_001164273.1	,	0,1,5902	TT,TC,CC	NA	0.0122,0.0,0.0085	,	2434/2857,2643/3066	42058209	1,11805	1820	4083	5903	SO:0001819	synonymous_variant			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197	23269	23269		MAX dimerization proteins, T-boxes	14010	protein-coding gene	gene with protein product			MAX gene associated		NA		Standard	NM_001164273.1	NM_001080541	NA	Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.7929C>T	15.37:g.42058209C>T		NA	Q9H8R3|Q9H9N7|Q9UG69|Q9Y4E9	37	CCDS55959.1																																																																																			MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000420229.1		+	ENST00000570161.1	Silent	SNP	15 : 42058209 - 42058209 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	380	17
PCDHA9	9752	broad.mit.edu	37	5	140229528	140229528	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140229528A>G	ENST00000532602.1	+	1	2481	c.1448A>G	c.(1447-1449)gAc>gGc	p.D483G	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.D483G|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron	NM_031857.1	NP_114063.1			protocadherin alpha 9	NA										breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGACGCTGACGCGCAGGAG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(55;1800 1972 14909)							NA				0								A	GLY/ASP,,,,,,,,,,,GLY/ASP	0,4390		0,0,2195	55	62	60		1448,,,,,,,,,,,1448	3.6	1	5		60	1,8529	1.2+/-3.3	0,1,4264	no	missense,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense	PCDHA9,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_014005.3,NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1	94,,,,,,,,,,,94	0,1,6459	GG,GA,AA	NA	0.0117,0.0,0.0077	,,,,,,,,,,,	483/843,,,,,,,,,,,483/951	140229528	1,12919	2195	4265	6460	SO:0001583	missense			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961	9752	9752		Cadherins / Protocadherins : Clustered	8675	other	complex locus constituent	KIAA0345-like 5	606315			NA	10380929	Standard	NM_031857	NM_031857	NA	Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1448A>G	5.37:g.140229528A>G	ENSP00000436042:p.Asp483Gly	NA		37	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.971122	0.53614	0.0	1.17E-4	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.74632	-0.86;-0.86	3.56	3.56	0.40772	Cadherin (4);Cadherin-like (1);	0.000000	0.32753	U	0.005685	D	0.91092	0.7196	H	0.98721	4.31	0.43179	D	0.994999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.93890	0.7179	10	0.87932	D	0	.	12.6265	0.56632	1.0:0.0:0.0:0.0	.	483;483	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	G	483	ENSP00000436042:D483G;ENSP00000367362:D483G	ENSP00000367362:D483G	D	+	2	0	PCDHA9	140209712	1.000000	0.71417	1.000000	0.80357	0.079000	0.17450	6.623000	0.74238	1.606000	0.50161	0.254000	0.18369	GAC	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372896.2		+	ENST00000532602.1	Missense_Mutation	SNP	5 : 140229528 - 140229528 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	894	173
ZNF880	400713	broad.mit.edu	37	19	52887625	52887625	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52887625A>G	ENST00000422689.2	+	4	807	c.792A>G	c.(790-792)ggA>ggG	p.G264G		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	264					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						TACATACTGGAGAGAAACCTT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	42	43			NA	NA	19		NA											NA				52887625		1568	3582	5150	SO:0001819	synonymous_variant			BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923	400713	400713		Zinc fingers, C2H2-type, -	37249	protein-coding gene	gene with protein product					NA		Standard	NM_001145434	NM_001145434	NA	Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.792A>G	19.37:g.52887625A>G		NA	B4DNA6	37	CCDS46164.1																																																																																			ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397374.1		+	ENST00000422689.2	Silent	SNP	19 : 52887625 - 52887625 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	179	40
ALLC	55821	broad.mit.edu	37	2	3727504	3727504	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:3727504G>A	ENST00000252505.3	+	5	380	c.218G>A	c.(217-219)cGg>cAg	p.R73Q		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	92							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GGAGTCATCCGGGGCTTCGAC	0.552		NA								HNSCC(21;0.051)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	162	159			NA	NA	2		NA											NA				3727504		2119	4216	6335	SO:0001583	missense			AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360	55821	55821			17377	protein-coding gene	gene with protein product		612396			NA	11054555	Standard		NM_018436	NA	Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.218G>A	2.37:g.3727504G>A	ENSP00000252505:p.Arg73Gln	NA	Q53T95|Q5RL81|Q96RE6|Q9NZA7	37	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357656	0.41801	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.77	2.92	0.33932	Allantoicase domain (1);Galactose-binding domain-like (1);	0.384865	0.29572	N	0.011780	T	0.34135	0.0887	L	0.55743	1.74	0.31510	N	0.663645	B	0.30021	0.265	B	0.24155	0.051	T	0.29731	-1.0002	9	0.28530	T	0.3	-16.8036	3.8873	0.09103	0.2449:0.0:0.5818:0.1733	.	92	Q8N6M5	ALLC_HUMAN	Q	73	.	ENSP00000252505:R73Q	R	+	2	0	ALLC	3705379	0.993000	0.37304	0.953000	0.39169	0.496000	0.33645	1.576000	0.36504	0.865000	0.35603	0.655000	0.94253	CGG	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322855.1		+	ENST00000252505.3	Missense_Mutation	SNP	2 : 3727504 - 3727504 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	665	150
MIEF2	125170	broad.mit.edu	37	17	18166031	18166031	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18166031G>T	ENST00000578621.1	+	0	97				MIEF2_ENST00000395704.4_5'UTR|MIEF2_ENST00000395706.2_Missense_Mutation_p.Q10H|MIEF2_ENST00000395703.4_5'UTR|MIEF2_ENST00000577216.1_Intron|MIEF2_ENST00000578174.1_5'UTR|MIEF2_ENST00000323019.4_5'UTR					mitochondrial elongation factor 2	NA											NA						CTTACAGGCAGACCATGGCAG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	32	33			NA	NA	17		NA											NA				18166031		2201	4299	6500	SO:0001623	5_prime_UTR_variant			BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427	125170	125170			17920	protein-coding gene	gene with protein product		615498	Smith-Magenis syndrome chromosome region, candidate 7	SMCR7	NA	11997338, 21508961	Standard	NM_139162	NM_001144900	NA	Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000578621.1:c.-4G>T	17.37:g.18166031G>T		NA		37		.	.	.	.	.	.	.	.	.	.	G	13.40	2.225893	0.39300	.	.	ENSG00000177427	ENST00000395706	T	0.12465	2.68	4.01	0.81	0.18732	.	0.945316	0.08294	U	0.968007	T	0.16085	0.0387	.	.	.	0.23607	N	0.997303	.	.	.	.	.	.	T	0.36335	-0.9752	7	0.87932	D	0	.	6.9204	0.24385	0.1663:0.1431:0.6906:0.0	.	.	.	.	H	10	ENSP00000379057:Q10H	ENSP00000379057:Q10H	Q	+	3	2	SMCR7	18106756	0.000000	0.05858	0.239000	0.24122	0.915000	0.54546	0.184000	0.16939	-0.008000	0.14320	-0.258000	0.10820	CAG	MIEF2-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000446939.1		+	ENST00000578621.1	5'UTR	SNP	17 : 18166031 - 18166031 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	148	39
MPDZ	8777	broad.mit.edu	37	9	13190142	13190142	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:13190142C>A	ENST00000319217.7	-	16	2372	c.2125G>T	c.(2125-2127)Gga>Tga	p.G709*	MPDZ_ENST00000541718.1_Nonsense_Mutation_p.G709*|MPDZ_ENST00000536827.1_Nonsense_Mutation_p.G709*|MPDZ_ENST00000546205.1_Nonsense_Mutation_p.G709*|MPDZ_ENST00000381015.4_Nonsense_Mutation_p.G709*|MPDZ_ENST00000447879.1_Nonsense_Mutation_p.G709*|MPDZ_ENST00000381022.2_Nonsense_Mutation_p.G709*	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	709	PDZ 5.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		AAACCAAGTCCTTTGCTCCCT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	69	71			NA	NA	9		NA											NA				13190142		1960	4155	6115	SO:0001587	stop_gained			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186	8777	8777			7208	protein-coding gene	gene with protein product		603785			NA		Standard	NM_003829	NM_003829	NA	Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.2125G>T	9.37:g.13190142C>A	ENSP00000320006:p.Gly709*	NA	A6NLC2|B2RTS3|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	37		.	.	.	.	.	.	.	.	.	.	C	45	11.594559	0.99580	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	.	.	.	5.83	5.83	0.93111	.	0.000000	0.42821	D	0.000653	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7442	0.96245	0.0:1.0:0.0:0.0	.	.	.	.	X	709;709;709;709;709;709;659;709	.	ENSP00000320006:G709X	G	-	1	0	MPDZ	13180142	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.487000	0.81328	2.770000	0.95276	0.655000	0.94253	GGA	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000055485.2		-	ENST00000319217.7	Nonsense_Mutation	SNP	9 : 13190142 - 13190142 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	141	12
HCN2	610	broad.mit.edu	37	19	603718	603718	+	Silent	SNP	C	C	T	rs143343881		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:603718C>T	ENST00000251287.2	+	2	860	c.807C>T	c.(805-807)atC>atT	p.I269I		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	269					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCATTGTGATCGAGGACAACA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(145;1175 2427 8056 36306)							NA				0								C		2,4398		0,2,2198	140	119	126		807	-3.1	1	19	dbSNP_134	126	1,8599		0,1,4299	no	coding-synonymous	HCN2	NM_001194.3		0,3,6497	TT,TC,CC	NA	0.0116,0.0455,0.0231		269/890	603718	3,12997	2200	4300	6500	SO:0001819	synonymous_variant			AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822	610	610		Voltage-gated ion channels / Cyclic nucleotide-regulated channels	4846	protein-coding gene	gene with protein product		602781		BCNG2	NA	9405696, 9630217, 16382102	Standard	NM_001194	NM_001194	NA	Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.807C>T	19.37:g.603718C>T		NA	O60742|O60743|O75267|Q9UBS2	37	CCDS12035.1																																																																																			HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452100.1		+	ENST00000251287.2	Silent	SNP	19 : 603718 - 603718 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	469	61
MYO1F	4542	broad.mit.edu	37	19	8619390	8619390	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8619390G>A	ENST00000338257.8	-	4	564	c.297C>T	c.(295-297)atC>atT	p.I99I		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	99	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TCTCACAGTCGATAAGCATGT	0.602		NA											G	1	5e-04	NA	NA	2184	NA	0.9997	,	,	NA	3e-04	0.0013	NA	NA	6e-04	0.7844	EXOME	NA	NA	0.002	SNP								NA				0													133	134	133			NA	NA	19		NA											NA				8619390		2036	4180	6216	SO:0001819	synonymous_variant			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347	4542	4542		Myosins / Myosin superfamily : Class I	7600	protein-coding gene	gene with protein product		601480			NA	9119401, 8884266	Standard		NM_012335	NA	Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.297C>T	19.37:g.8619390G>A		NA	Q8WWN7	37	CCDS42494.1																																																																																			MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342716.2		-	ENST00000338257.8	Silent	SNP	19 : 8619390 - 8619390 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	651	146
IFIH1	64135	broad.mit.edu	37	2	163130398	163130398	+	Silent	SNP	G	G	A	rs35677292		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163130398G>A	ENST00000263642.2	-	12	2756	c.2361C>T	c.(2359-2361)atC>atT	p.I787I		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	787	Helicase C-terminal.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CTGTGGTAGCGATAAGCAGAT	0.338		NA											G	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	1	EXOME	NA	NA	8e-04	SNP								NA				0								G		1,4405	2.1+/-5.4	0,1,2202	140	130	133		2361	1.3	1	2	dbSNP_126	133	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IFIH1	NM_022168.2		0,2,6501	AA,AG,GG	NA	0.0116,0.0227,0.0154		787/1026	163130398	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267	64135	64135			18873	protein-coding gene	gene with protein product	helicard	606951			NA		Standard	NM_022168	NM_022168	NA	Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.2361C>T	2.37:g.163130398G>A		NA	Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	37	CCDS2217.1																																																																																			IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255078.2		-	ENST00000263642.2	Silent	SNP	2 : 163130398 - 163130398 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	506	80
MPP7	143098	broad.mit.edu	37	10	28345483	28345483	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28345483G>A	ENST00000375732.1	-	16	1736	c.1477C>T	c.(1477-1479)Cgt>Tgt	p.R493C	MPP7_ENST00000337532.5_Missense_Mutation_p.R493C|MPP7_ENST00000375719.3_Missense_Mutation_p.R493C|MPP7_ENST00000540098.1_Missense_Mutation_p.R493C			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	493	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TCTCTCAAACGCTCTATTGAT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	169	170			NA	NA	10		NA											NA				28345483		2203	4300	6503	SO:0001583	missense			BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054	143098	143098			26542	protein-coding gene	gene with protein product		610973			NA	14719143	Standard	NM_173496	NM_173496	NA	Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.1477C>T	10.37:g.28345483G>A	ENSP00000364884:p.Arg493Cys	NA	B2RCC9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	37	CCDS7158.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873324	0.72180	.	.	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719;ENST00000441595	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	5.72	5.72	0.89469	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.38983	0.1061	L	0.39467	1.215	0.80722	D	1	B	0.33964	0.434	B	0.31614	0.133	T	0.19128	-1.0315	10	0.48119	T	0.1	.	19.876	0.96870	0.0:0.0:1.0:0.0	.	493	Q5T2T1	MPP7_HUMAN	C	493;493;493;493;254	ENSP00000364884:R493C;ENSP00000337907:R493C;ENSP00000438693:R493C;ENSP00000364871:R493C;ENSP00000398319:R254C	ENSP00000337907:R493C	R	-	1	0	MPP7	28385489	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.986000	0.63851	2.709000	0.92574	0.591000	0.81541	CGT	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047345.1		-	ENST00000375732.1	Missense_Mutation	SNP	10 : 28345483 - 28345483 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	740	61
ANKHD1	54882	broad.mit.edu	37	5	139818087	139818087	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139818087G>T	ENST00000297183.6	+	3	626	c.502G>T	c.(502-504)Gat>Tat	p.D168Y	ANKHD1_ENST00000394723.3_Missense_Mutation_p.D168Y|ANKHD1_ENST00000360839.2_Missense_Mutation_p.D168Y|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.D168Y|ANKHD1_ENST00000394722.3_Missense_Mutation_p.D157Y	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1	NA										breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTTTTGCAGATCCTGAGGT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													201	184	190			NA	NA	5		NA											NA				139818087		2203	4300	6503	SO:0001583	missense			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503	54882	54882		Ankyrin repeat domain containing	24714	protein-coding gene	gene with protein product		610500			NA	10470851, 11230166, 16098192	Standard	NM_017747	NM_017747	NA	Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000297183.6:c.502G>T	5.37:g.139818087G>T	ENSP00000297183:p.Asp168Tyr	NA		37	CCDS4224.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.9|27.9	4.876600|4.876600	0.91664|0.91664	.|.	.|.	ENSG00000131503|ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000511151|ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000421134;ENST00000394723;ENST00000394722;ENST00000532219	.|T;T;T;T;T;T	.|0.73789	.|-0.75;-0.78;-0.6;-0.4;-0.28;-0.78	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.123818	.|0.51477	.|D	.|0.000086	.|T	.|0.81380	.|0.4810	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|P;D;D;P;D	.|0.76494	.|0.917;0.999;0.999;0.917;0.973	.|P;D;D;P;P	.|0.81914	.|0.776;0.995;0.995;0.851;0.894	.|T	.|0.83144	.|-0.0107	.|10	.|0.72032	.|D	.|0.01	.|.	19.2594|19.2594	0.93961|0.93961	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|168;168;168;157;168	.|Q8IWZ3-5;Q8IWZ2;Q8IWZ3;Q8IWZ3-3;Q8IWZ3-2	.|.;.;ANKH1_HUMAN;.;.	.|Y	-1|168;182;168;168;168;168;157;168	.|ENSP00000354085:D168Y;ENSP00000297183:D168Y;ENSP00000394489:D168Y;ENSP00000378212:D168Y;ENSP00000378211:D157Y;ENSP00000432016:D168Y	.|ENSP00000432016:D168Y	.|D	+|+	.|1	.|0	ANKHD1|ANKHD1-EIF4EBP3;ANKHD1	139798271|139798271	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.684000|9.684000	0.98659|0.98659	2.549000|2.549000	0.85964|0.85964	0.650000|0.650000	0.86243|0.86243	.|GAT	ANKHD1-201	KNOWN	basic|exp_conf|CCDS	protein_coding	NA	protein_coding			+	ENST00000297183.6	Missense_Mutation	SNP	5 : 139818087 - 139818087 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	985	95
ZMIZ2	83637	broad.mit.edu	37	7	44807123	44807123	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44807123G>A	ENST00000309315.4	+	19	2787	c.2664G>A	c.(2662-2664)ccG>ccA	p.P888P	ZMIZ2_ENST00000441627.1_Silent_p.P888P|ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000413916.1_Silent_p.P830P|ZMIZ2_ENST00000433667.1_Silent_p.P856P|ZMIZ2_ENST00000265346.7_Silent_p.P862P	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	888	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGCTGCTCCCGGAACTGACCA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(20;604 852 1948 16908 50522)							NA				0													126	140	136			NA	NA	7		NA											NA				44807123		2054	4196	6250	SO:0001819	synonymous_variant			AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515	83637	83637		Zinc fingers, MIZ-type	22229	protein-coding gene	gene with protein product		611196			NA		Standard	NM_031449	XM_005249866	NA	Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.2664G>A	7.37:g.44807123G>A		NA	A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	37	CCDS43576.1																																																																																			ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341790.1		+	ENST00000309315.4	Silent	SNP	7 : 44807123 - 44807123 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	280	40
LRIT3	345193	broad.mit.edu	37	4	110791701	110791701	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110791701T>G	ENST00000327908.3	+	4	2011	c.1247T>G	c.(1246-1248)aTt>aGt	p.I416S	LRIT3_ENST00000379920.3_Missense_Mutation_p.I554S|LRIT3_ENST00000594814.1_Missense_Mutation_p.I599S|LRIT3_ENST00000409621.2_Missense_Mutation_p.I416S			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	554						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TTACCATTGATTTGTTTCTTG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	168	169			NA	NA	4		NA											NA				110791701		2203	4300	6503	SO:0001583	missense			AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423	345193	345193		Immunoglobulin superfamily / I-set domain containing	24783	protein-coding gene	gene with protein product	fibronectin type III, immunoglobulin and leucine rich repeat domains 4	615004			NA		Standard	NM_198506	NM_198506	NA	Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000327908.3:c.1247T>G	4.37:g.110791701T>G	ENSP00000328222:p.Ile416Ser	NA	C9J1C2|Q6ZTG1	37		.	.	.	.	.	.	.	.	.	.	T	19.26	3.793625	0.70452	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.60040	0.22;0.4;0.22	5.37	5.37	0.77165	.	0.095629	0.64402	D	0.000001	T	0.71126	0.3303	M	0.63843	1.955	0.80722	D	1	D;D	0.67145	0.993;0.996	P;P	0.62298	0.726;0.9	T	0.74213	-0.3738	10	0.62326	D	0.03	.	15.3813	0.74658	0.0:0.0:0.0:1.0	.	554;416	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	S	416;554;416	ENSP00000328222:I416S;ENSP00000369252:I554S;ENSP00000386734:I416S	ENSP00000328222:I416S	I	+	2	0	LRIT3	111011150	1.000000	0.71417	0.973000	0.42090	0.776000	0.43924	4.782000	0.62396	2.030000	0.59900	0.533000	0.62120	ATT	LRIT3-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000255064.1		+	ENST00000327908.3	Missense_Mutation	SNP	4 : 110791701 - 110791701 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	474	78
PLA2G6	8398	broad.mit.edu	37	22	38516823	38516823	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38516823T>C	ENST00000332509.3	-	12	1868	c.1685A>G	c.(1684-1686)gAg>gGg	p.E562G	PLA2G6_ENST00000402064.1_Missense_Mutation_p.E508G|PLA2G6_ENST00000335539.3_Missense_Mutation_p.E508G	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	562					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CTTCAGGAACTCCTCCAGGGG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	85	85			NA	NA	22		NA											NA				38516823		2203	4300	6503	SO:0001583	missense			AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	8398	8398	3.1.1.4	Patatin-like phospholipase domain containing, Parkinson disease, Ankyrin repeat domain containing	9039	protein-coding gene	gene with protein product	neurodegeneration with brain iron accumulation 2	603604			NA	9417066, 16799181, 19029121	Standard	NM_001004426	NM_001199562	NA	Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.1685A>G	22.37:g.38516823T>C	ENSP00000333142:p.Glu562Gly	NA	A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	37	CCDS13967.1	.	.	.	.	.	.	.	.	.	.	T	14.79	2.641152	0.47153	.	.	ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064	T;T;T	0.78364	-1.17;-1.17;-1.17	5.45	5.45	0.79879	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.164580	0.53938	N	0.000044	D	0.83936	0.5362	L	0.58101	1.795	0.80722	D	1	D;B	0.63880	0.993;0.004	P;B	0.60886	0.88;0.016	D	0.83691	0.0177	10	0.40728	T	0.16	-41.0939	15.5648	0.76281	0.0:0.0:0.0:1.0	.	508;562	O60733-2;O60733	.;PA2G6_HUMAN	G	562;423;508;508	ENSP00000333142:E562G;ENSP00000335149:E508G;ENSP00000386100:E508G	ENSP00000333142:E562G	E	-	2	0	PLA2G6	36846769	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	7.272000	0.78516	2.071000	0.62044	0.454000	0.30748	GAG	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321860.1		-	ENST00000332509.3	Missense_Mutation	SNP	22 : 38516823 - 38516823 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	665	108
PSMD3	5709	broad.mit.edu	37	17	38142955	38142955	+	Missense_Mutation	SNP	G	G	A	rs142347522		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38142955G>A	ENST00000264639.4	+	3	713	c.539G>A	c.(538-540)cGc>cAc	p.R180H	PSMD3_ENST00000541736.1_Missense_Mutation_p.R42H	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	180					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					AACAGCAAGCGCTACAAAGAG	0.537		NA											G	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	4e-04	SNP	Ovarian(186;531 2051 6385 19668 48409)							NA				0								G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	125	117	120		539	5.3	1	17	dbSNP_134	120	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PSMD3	NM_002809.2	29	0,3,6500	AA,AG,GG	NA	0.0116,0.0454,0.0231	benign	180/535	38142955	3,13003	2203	4300	6503	SO:0001583	missense			D67025	CCDS11356.1	17q21.2	2010-07-23			ENSG00000108344	ENSG00000108344	5709	5709		Proteasome (prosome, macropain) subunits	9560	protein-coding gene	gene with protein product			tissue specific transplantation antigen 2	TSTA2	NA	9017604	Standard	NM_002809	NM_002809	NA	Approved	S3, P58, Rpn3	uc002htn.2	O43242	OTTHUMG00000133251	ENST00000264639.4:c.539G>A	17.37:g.38142955G>A	ENSP00000264639:p.Arg180His	NA	B3KMW9|Q96EI2|Q9BQA4	37	CCDS11356.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.19	3.051901	0.55218	4.54E-4	1.16E-4	ENSG00000108344	ENST00000264639;ENST00000415039;ENST00000541736	T;T	0.76709	-1.04;-1.04	5.35	5.35	0.76521	Tetratricopeptide-like helical (1);	0.104781	0.64402	D	0.000005	T	0.69886	0.3161	L	0.31752	0.955	0.58432	D	0.999998	B	0.17667	0.023	B	0.08055	0.003	T	0.64433	-0.6409	10	0.41790	T	0.15	-5.143	18.687	0.91568	0.0:0.0:1.0:0.0	.	180	O43242	PSMD3_HUMAN	H	180;167;42	ENSP00000264639:R180H;ENSP00000442508:R42H	ENSP00000264639:R180H	R	+	2	0	PSMD3	35396481	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.417000	0.73337	2.495000	0.84180	0.462000	0.41574	CGC	PSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257018.1		+	ENST00000264639.4	Missense_Mutation	SNP	17 : 38142955 - 38142955 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	745	125
ZKSCAN4	387032	broad.mit.edu	37	6	28213078	28213078	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28213078A>G	ENST00000377294.2	-	5	1697	c.1454T>C	c.(1453-1455)gTg>gCg	p.V485A	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.V330A	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	485					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TTTATAAGACACGGGAGCCTC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	126	124			NA	NA	6		NA											NA				28213078		2203	4300	6503	SO:0001583	missense			AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626	387032	387032		Zinc fingers, C2H2-type, -, -, -	13854	protein-coding gene	gene with protein product		611643	zinc finger protein 307, zinc finger protein 427	ZNF307, ZNF427	NA	12477932	Standard	NM_019110	NM_019110	NA	Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.1454T>C	6.37:g.28213078A>G	ENSP00000366509:p.Val485Ala	NA	B2RE32|Q5U7L4	37	CCDS4647.1	.	.	.	.	.	.	.	.	.	.	A	7.727	0.698511	0.15106	.	.	ENSG00000187626	ENST00000377294;ENST00000423974	T;T	0.05649	3.51;3.41	5.06	-2.27	0.06846	.	.	.	.	.	T	0.01421	0.0046	L	0.34521	1.04	0.09310	N	1	B	0.27791	0.189	B	0.25140	0.058	T	0.47005	-0.9150	9	0.87932	D	0	.	3.3464	0.07137	0.3562:0.0:0.1784:0.4654	.	485	Q969J2	ZKSC4_HUMAN	A	485;330	ENSP00000366509:V485A;ENSP00000401978:V330A	ENSP00000366509:V485A	V	-	2	0	ZKSCAN4	28321057	0.992000	0.36948	0.001000	0.08648	0.168000	0.22595	-0.265000	0.08644	-0.124000	0.11724	-0.250000	0.11733	GTG	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040179.1		-	ENST00000377294.2	Missense_Mutation	SNP	6 : 28213078 - 28213078 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	709	73
EHD4	30844	broad.mit.edu	37	15	42211611	42211611	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42211611A>C	ENST00000220325.4	-	4	804	c.721T>G	c.(721-723)Tgg>Ggg	p.W241G		NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	241					endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CCTAGGGACCACATGAGGGCC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	73	75			NA	NA	15		NA											NA				42211611		2203	4299	6502	SO:0001583	missense			AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966	30844	30844		EF-hand domain containing	3245	protein-coding gene	gene with protein product		605892		PAST4	NA	10673336, 11533061	Standard	NM_139265	NM_139265	NA	Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.721T>G	15.37:g.42211611A>C	ENSP00000220325:p.Trp241Gly	NA	Q9HAR1|Q9NZN2	37	CCDS10081.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.435371	0.83885	.	.	ENSG00000103966	ENST00000220325	D	0.94862	-3.54	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.98153	0.9390	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99568	1.0970	10	0.87932	D	0	-11.9241	15.2845	0.73816	1.0:0.0:0.0:0.0	.	241	Q9H223	EHD4_HUMAN	G	241	ENSP00000220325:W241G	ENSP00000220325:W241G	W	-	1	0	EHD4	39998903	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.017000	0.59298	0.533000	0.62120	TGG	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252737.2		-	ENST00000220325.4	Missense_Mutation	SNP	15 : 42211611 - 42211611 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	293	11
ASPM	259266	broad.mit.edu	37	1	197091137	197091137	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197091137G>T	ENST00000367409.4	-	16	4034	c.3778C>A	c.(3778-3780)Ctt>Att	p.L1260I	ASPM_ENST00000294732.7_Missense_Mutation_p.L1260I|ASPM_ENST00000367408.1_Missense_Mutation_p.L510I	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1260					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGATCCAAAAGCCTTGCACAA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	71	72			NA	NA	1		NA											NA				197091137		2203	4298	6501	SO:0001583	missense			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279	259266	259266			19048	protein-coding gene	gene with protein product		605481	microcephaly, primary autosomal recessive 5, asp (abnormal spindle)-like, microcephaly associated (Drosophila)	MCPH5	NA	11078481	Standard	NM_018136	NM_018136	NA	Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3778C>A	1.37:g.197091137G>T	ENSP00000356379:p.Leu1260Ile	NA	Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.981218	0.93044	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.61392	0.11;0.11;0.11	5.74	5.74	0.90152	Calponin homology domain (2);	0.000000	0.64402	D	0.000007	T	0.80654	0.4664	M	0.86740	2.835	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.80764	0.994;0.992	T	0.82592	-0.0381	10	0.62326	D	0.03	.	19.9077	0.97014	0.0:0.0:1.0:0.0	.	1260;1260	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	I	1260;1260;510	ENSP00000356379:L1260I;ENSP00000294732:L1260I;ENSP00000356378:L510I	ENSP00000294732:L1260I	L	-	1	0	ASPM	195357760	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.960000	0.93117	2.714000	0.92807	0.585000	0.79938	CTT	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088256.1		-	ENST00000367409.4	Missense_Mutation	SNP	1 : 197091137 - 197091137 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	208	15
CORO2B	10391	broad.mit.edu	37	15	69006382	69006382	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69006382T>C	ENST00000543950.1	+	6	1104		c.e6+2		CORO2B_ENST00000540068.1_Splice_Site|CORO2B_ENST00000261861.5_Splice_Site|CORO2B_ENST00000566799.1_Splice_Site	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	NA					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGGGACCAGGTCAGCCACGGG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	46	50			NA	NA	15		NA											NA				69006382		2200	4298	6498	SO:0001630	splice_region_variant			AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647	10391	10391		Coronins, WD repeat domain containing	2256	protein-coding gene	gene with protein product	clipin C, coronin, actin-binding, 2B	605002	coronin, actin-binding protein, 2B		NA	10224093, 10231032	Standard	NM_006091	NM_001190456	NA	Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000543950.1:c.750+2T>C	15.37:g.69006382T>C		NA	A8K0W3|O94767|Q8TAN1	37	CCDS53952.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.601805	0.87055	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3006	0.60324	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CORO2B	66793436	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.899000	0.87370	2.018000	0.59344	0.533000	0.62120	.	CORO2B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257068.3	Intron	+	ENST00000543950.1	Splice_Site	SNP	15 : 69006382 - 69006382 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	199	8
LARP1B	55132	broad.mit.edu	37	4	129043322	129043322	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:129043322A>T	ENST00000512292.1	+	11	1696	c.1503A>T	c.(1501-1503)gaA>gaT	p.E501D	LARP1B_ENST00000264584.5_Missense_Mutation_p.E454D|LARP1B_ENST00000427266.1_Missense_Mutation_p.E501D|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000441387.1_Missense_Mutation_p.E501D|LARP1B_ENST00000326639.6_Missense_Mutation_p.E501D			Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	501							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						AAGAAGATGAAAACAAACACA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	95	96			NA	NA	4		NA											NA				129043322		2203	4300	6503	SO:0001583	missense				CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709	55132	55132		La ribonucleoprotein domain containing	24704	protein-coding gene	gene with protein product			La ribonucleoprotein domain family, member 2	LARP2	NA	12045101	Standard	NM_018078	NM_018078	NA	Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000512292.1:c.1503A>T	4.37:g.129043322A>T	ENSP00000422850:p.Glu501Asp	NA	Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.88|15.88	2.962449|2.962449	0.53400|0.53400	.|.	.|.	ENSG00000138709|ENSG00000138709	ENST00000326639;ENST00000512292;ENST00000508819;ENST00000264584;ENST00000441387;ENST00000427266|ENST00000507377	T;T;T;T;T;T|.	0.36878|.	1.72;1.23;1.26;1.75;1.71;1.28|.	4.88|4.88	2.36|2.36	0.29203|0.29203	.|.	0.735154|.	0.12853|.	N|.	0.433769|.	T|.	0.55305|.	0.1912|.	L|L	0.52126|0.52126	1.63|1.63	0.80722|0.80722	D|D	1|1	P;D;B|.	0.60160|.	0.768;0.987;0.031|.	B;P;B|.	0.55455|.	0.418;0.776;0.043|.	T|.	0.49293|.	-0.8955|.	10|.	0.20519|.	T|.	0.43|.	.|.	7.076|7.076	0.25205|0.25205	0.7959:0.0:0.073:0.1311|0.7959:0.0:0.073:0.1311	.|.	454;501;501|.	D6RJB0;Q659C4;G3XAJ5|.	.;LAR1B_HUMAN;.|.	D|X	501;501;454;454;501;501|470	ENSP00000321997:E501D;ENSP00000422850:E501D;ENSP00000427281:E454D;ENSP00000264584:E454D;ENSP00000396521:E501D;ENSP00000403586:E501D|.	ENSP00000264584:E454D|.	E|K	+|+	3|1	2|0	LARP1B|LARP1B	129262772|129262772	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.475000|0.475000	0.33008|0.33008	2.360000|2.360000	0.44151|0.44151	0.869000|0.869000	0.35703|0.35703	0.491000|0.491000	0.48974|0.48974	GAA|AAA	LARP1B-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000364011.1		+	ENST00000512292.1	Missense_Mutation	SNP	4 : 129043322 - 129043322 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	499	83
KIF22	3835	broad.mit.edu	37	16	29810350	29810350	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29810350C>T	ENST00000400751.5	+	5	1025	c.400C>T	c.(400-402)Cgg>Tgg	p.R134W	KIF22_ENST00000160827.4_Missense_Mutation_p.R202W|KIF22_ENST00000569382.2_Missense_Mutation_p.R134W|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000561482.1_Missense_Mutation_p.R134W			Q14807	KIF22_HUMAN	kinesin family member 22	202	Kinesin-motor.				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						AGAAGACTGCCGGGGGAATAT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	99	97			NA	NA	16		NA											NA				29810350		2197	4296	6493	SO:0001583	missense			D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616	3835	3835		Kinesins	6391	protein-coding gene	gene with protein product		603213	kinesin-like 4	KNSL4	NA	8599929, 11416179	Standard		NM_007317	NA	Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000400751.5:c.400C>T	16.37:g.29810350C>T	ENSP00000383562:p.Arg134Trp	NA	B2R5M0|O60845|O94814|Q53F58|Q9BT46	37	CCDS58444.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757538	0.49468	.	.	ENSG00000079616	ENST00000160827;ENST00000400751	T;T	0.75589	-0.95;-0.95	5.95	2.57	0.30868	Kinesin, motor domain (4);	.	.	.	.	T	0.63165	0.2488	L	0.51914	1.62	0.80722	D	1	B;B	0.19706	0.007;0.038	B;B	0.17098	0.017;0.006	T	0.64084	-0.6490	9	0.56958	D	0.05	.	3.4282	0.07418	0.1625:0.4507:0.295:0.0918	.	134;202	B7Z265;Q14807	.;KIF22_HUMAN	W	202;134	ENSP00000160827:R202W;ENSP00000383562:R134W	ENSP00000160827:R202W	R	+	1	2	KIF22	29717851	0.999000	0.42202	0.999000	0.59377	0.980000	0.70556	2.876000	0.48498	1.496000	0.48567	0.655000	0.94253	CGG	KIF22-002	PUTATIVE	alternative_5_UTR|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000435528.1		+	ENST00000400751.5	Missense_Mutation	SNP	16 : 29810350 - 29810350 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	823	109
PDE4DIP	9659	broad.mit.edu	37	1	144946699	144946699	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144946699G>T	ENST00000530740.1	-	8	1011	c.973C>A	c.(973-975)Ctt>Att	p.L325I	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.L325I|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.L188I|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.L188I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.L188I|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.L254I|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.L188I			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	188					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGTTCTACAAGCCTCTCCTGG	0.433		NA	T	PDGFRB	MPD									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													138	125	129			NA	NA	1		NA											NA				144946699		2203	4300	6503	SO:0001583	missense			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104	9659	9659			15580	protein-coding gene	gene with protein product	myomegalin	608117	cardiomyopathy associated 2	CMYA2	NA	9455484, 11134006	Standard	NM_022359	NM_022359	NA	Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000530740.1:c.973C>A	1.37:g.144946699G>T	ENSP00000435654:p.Leu325Ile	NA	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	37		.	.	.	.	.	.	.	.	.	.	G	17.84	3.488927	0.64074	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000530078	T;T;T;T;T;T;T	0.04917	4.38;4.5;4.51;4.5;4.5;3.53;3.54	5.16	3.15	0.36227	.	.	.	.	.	T	0.10508	0.0257	M	0.65975	2.015	0.80722	D	1	B;D;D	0.76494	0.002;0.993;0.999	B;P;D	0.63957	0.011;0.86;0.92	T	0.01205	-1.1419	9	0.66056	D	0.02	.	10.3884	0.44154	0.0:0.0:0.6156:0.3844	.	188;254;188	Q5VU43-7;Q5VU43-3;Q5VU43	.;.;MYOME_HUMAN	I	254;188;188;325;325;188;188;254	ENSP00000327209:L254I;ENSP00000358360:L188I;ENSP00000358363:L188I;ENSP00000435654:L325I;ENSP00000358366:L325I;ENSP00000358357:L188I;ENSP00000358355:L188I	ENSP00000327209:L254I	L	-	1	0	PDE4DIP	143658056	0.998000	0.40836	0.925000	0.36789	0.734000	0.41952	1.902000	0.39848	0.636000	0.30508	0.655000	0.94253	CTT	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000384663.2		-	ENST00000530740.1	Missense_Mutation	SNP	1 : 144946699 - 144946699 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	546	71
ABCA12	26154	broad.mit.edu	37	2	215815716	215815716	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215815716C>T	ENST00000272895.7	-	45	6958	c.6739G>A	c.(6739-6741)Ggt>Agt	p.G2247S	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.G1929S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2247					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCAGCTGCACCACTCTCAACT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(66;664 1488 5121 34295)							NA				0													224	220	222			NA	NA	2		NA											NA				215815716		2203	4300	6503	SO:0001583	missense			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452	26154	26154		ATP binding cassette transporters / subfamily A	14637	protein-coding gene	gene with protein product		607800	ichthyosis congenita II, lamellar ichthyosis B	ICR2B	NA	11435397, 12915478, 8845852, 10094194	Standard	NM_173076	NM_015657	NA	Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6739G>A	2.37:g.215815716C>T	ENSP00000272895:p.Gly2247Ser	NA	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057706	0.76074	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.89270	-2.49;-2.45	5.61	5.61	0.85477	.	0.374382	0.25768	N	0.028440	D	0.92795	0.7709	L	0.42744	1.35	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.986;0.998	D	0.93225	0.6612	10	0.87932	D	0	.	19.6562	0.95842	0.0:1.0:0.0:0.0	.	2247;1929	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	S	2247;1929	ENSP00000272895:G2247S;ENSP00000374312:G1929S	ENSP00000272895:G2247S	G	-	1	0	ABCA12	215523961	1.000000	0.71417	0.909000	0.35828	0.181000	0.23173	7.031000	0.76491	2.639000	0.89480	0.555000	0.69702	GGT	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337111.1		-	ENST00000272895.7	Missense_Mutation	SNP	2 : 215815716 - 215815716 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	988	148
TLE4	7091	broad.mit.edu	37	9	82319707	82319707	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:82319707G>T	ENST00000376552.2	+	9	1637	c.619G>T	c.(619-621)Gta>Tta	p.V207L	TLE4_ENST00000265284.6_Missense_Mutation_p.V182L|TLE4_ENST00000376537.4_Missense_Mutation_p.V207L|TLE4_ENST00000376520.4_Splice_Site|TLE4_ENST00000376544.3_Splice_Site|TLE4_ENST00000376534.4_5'UTR	NM_007005.3	NP_008936.2	O60756	BCE1_HUMAN	transducin-like enhancer of split 4	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GAGCTCTTCAGTATCCCCATC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	165	165			NA	NA	9		NA											NA				82319707		1844	4097	5941	SO:0001583	missense			M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829	7091	7091		WD repeat domain containing	11840	protein-coding gene	gene with protein product		605132	transducin-like enhancer of split 4, homolog of Drosophila E(sp1), transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)		NA	8365415	Standard	XM_212237	XM_005252167	NA	Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.619G>T	9.37:g.82319707G>T	ENSP00000365735:p.Val207Leu	NA		37	CCDS43837.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.32|19.32	3.805586|3.805586	0.70682|0.70682	.|.	.|.	ENSG00000106829|ENSG00000106829	ENST00000376544;ENST00000376520|ENST00000376552;ENST00000376537;ENST00000265284;ENST00000428713;ENST00000490347;ENST00000467142	.|T;T;T;T;T;T	.|0.43294	.|0.95;1.06;1.05;1.59;1.99;1.31	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|.	.|.	.|.	.|.	.|T	.|0.26304	.|0.0642	N|N	0.12746|0.12746	0.255|0.255	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.06786	.|0.0;0.001;0.0;0.0	.|B;B;B;B	.|0.08055	.|0.001;0.003;0.001;0.001	.|T	.|0.19289	.|-1.0310	.|9	.|0.02654	.|T	.|1	.|2.9876	20.3206|20.3206	0.98668|0.98668	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|182;207;207;207	.|F8W6T6;Q04727-2;Q04727-3;Q04727	.|.;.;.;TLE4_HUMAN	.|L	-1|207;207;182;192;77;4	.|ENSP00000365735:V207L;ENSP00000365720:V207L;ENSP00000265284:V182L;ENSP00000409313:V192L;ENSP00000417844:V77L;ENSP00000418409:V4L	.|ENSP00000265284:V182L	.|V	+|+	.|1	.|0	TLE4|TLE4	81509527|81509527	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.975000|0.975000	0.68041|0.68041	7.953000|7.953000	0.87836|0.87836	2.813000|2.813000	0.96785|0.96785	0.561000|0.561000	0.74099|0.74099	.|GTA	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052792.4		+	ENST00000376552.2	Missense_Mutation	SNP	9 : 82319707 - 82319707 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	941	227
MCM7	4176	broad.mit.edu	37	7	99691794	99691794	+	Splice_Site	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99691794A>T	ENST00000303887.5	-	13	2494		c.e13+1		MCM7_ENST00000343023.6_Intron|MCM7_ENST00000354230.3_Splice_Site	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	NA					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|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	TTGGGCACTTACCAGAGCAGT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	94	95			NA	NA	7		NA											NA				99691794		2203	4300	6503	SO:0001630	splice_region_variant				CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508	4176	4176			6950	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 104	600592	minichromosome maintenance deficient (S. cerevisiae) 7, MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)	MCM2	NA	7842741	Standard		NM_005916	NA	Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.1848+1T>A	7.37:g.99691794A>T		NA	A4D2A1|Q15076|Q96D34|Q96GL1	37	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	A	12.33	1.905618	0.33628	.	.	ENSG00000166508	ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230	.	.	.	5.21	4.02	0.46733	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.483	0.38913	0.9138:0.0:0.0862:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MCM7	99529730	1.000000	0.71417	1.000000	0.80357	0.456000	0.32438	5.466000	0.66731	2.193000	0.70182	0.459000	0.35465	.	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336534.3	Intron	-	ENST00000303887.5	Splice_Site	SNP	7 : 99691794 - 99691794 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	758	123
ZFR2	23217	broad.mit.edu	37	19	3813948	3813948	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3813948G>A	ENST00000262961.4	-	14	2122	c.2112C>T	c.(2110-2112)acC>acT	p.T704T		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	704						intracellular	nucleic acid binding|zinc ion binding	p.T704T(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		ACTCATCCTCGGTCACCATCT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	kidney(1)						A		0,4146		0,0,2073	58	62	61		2112	-9.4	0	19		61	1,8409		0,1,4204	no	coding-synonymous	ZFR2	NM_015174.1		0,1,6277	AA,AG,GG	NA	0.0119,0.0,0.0080		704/940	3813948	1,12555	2073	4205	6278	SO:0001819	synonymous_variant			AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278	23217	23217			29189	protein-coding gene	gene with protein product			KIAA1086	KIAA1086	NA	10470851	Standard	NM_015174	NM_015174	NA	Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.2112C>T	19.37:g.3813948G>A		NA		37	CCDS45921.1																																																																																			ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453648.2		-	ENST00000262961.4	Silent	SNP	19 : 3813948 - 3813948 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	199	41
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74665359	74665359	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:74665359G>A	ENST00000370899.3	+	2	131	c.94G>A	c.(94-96)Gca>Aca	p.A32T	FPGT-TNNI3K_ENST00000370893.1_Missense_Mutation_p.A32T|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.A45T|FPGT_ENST00000370898.3_Missense_Mutation_p.A45T|FPGT-TNNI3K_ENST00000533006.1_3'UTR|FPGT_ENST00000482102.2_Missense_Mutation_p.A54T|FPGT_ENST00000609362.1_Missense_Mutation_p.A32T|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.A32T|FPGT_ENST00000370894.5_Missense_Mutation_p.A32T|FPGT_ENST00000467578.2_Missense_Mutation_p.A45T|FPGT_ENST00000534056.1_Missense_Mutation_p.A32T|TNNI3K_ENST00000370891.2_Missense_Mutation_p.A32T|FPGT_ENST00000524915.1_3'UTR	NM_001199327.1	NP_001186256	Q59H18	TNI3K_HUMAN	FPGT-TNNI3K readthrough	0						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding				NA						CAAACTTGTAGCACGTGGAGA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	91	91			NA	NA	1		NA											NA				74665359		2203	4300	6503	SO:0001583	missense					1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030	100526835	100526835			42952	other	readthrough					NA		Standard		NM_001112808	NA	Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.94G>A	1.37:g.74665359G>A	ENSP00000359936:p.Ala32Thr	NA	Q17RN0|Q49AR1|Q6MZS9|Q9Y2V6	37		.	.	.	.	.	.	.	.	.	.	G	13.15	2.151391	0.38021	.	.	ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000467578;ENST00000524915;ENST00000482102;ENST00000370898;ENST00000370894;ENST00000534056;ENST00000472069;ENST00000370899;ENST00000370895;ENST00000534632;ENST00000557284;ENST00000370891;ENST00000370893	T;T;T;T;T;T	0.74421	1.59;1.02;-0.84;-0.55;-0.83;-0.83	4.9	0.643	0.17770	.	0.394219	0.23500	N	0.047517	T	0.30135	0.0755	L	0.29908	0.895	0.19300	N	0.99998	P;B;B;B;B;B	0.39094	0.659;0.007;0.001;0.002;0.355;0.031	B;B;B;B;B;B	0.28709	0.093;0.003;0.001;0.003;0.069;0.009	T	0.15809	-1.0424	10	0.48119	T	0.1	.	1.8757	0.03217	0.1882:0.3144:0.3613:0.1361	.	32;32;32;32;32;32	B4DH62;E9PNQ2;Q59H18-1;Q59H18-4;Q59H18-3;O14772	.;.;.;.;.;FPGT_HUMAN	T	32;32;54;32;32;32;30;32;32;32;32;32;32	ENSP00000359935:A32T;ENSP00000432819:A32T;ENSP00000359936:A32T;ENSP00000359932:A32T;ENSP00000450895:A32T;ENSP00000359928:A32T	ENSP00000359928:A32T	A	+	1	0	RP11-653A5.2;TNNI3K;AC093158.1	74437947	0.993000	0.37304	0.982000	0.44146	0.080000	0.17528	1.523000	0.35932	0.572000	0.29383	-0.291000	0.09656	GCA	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000026438.3		+	ENST00000370899.3	Missense_Mutation	SNP	1 : 74665359 - 74665359 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	351	73
MAP10	54627	broad.mit.edu	37	1	232941505	232941505	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232941505C>A	ENST00000418460.1	+	1	863	c.736C>A	c.(736-738)Ctg>Atg	p.L246M		NM_019090.2	NP_061963.2			microtubule-associated protein 10	NA											NA						GCCTGCTACCCTGCACTGCCG	0.741		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													9	12	11			NA	NA	1		NA											NA				232941505		1947	4085	6032	SO:0001583	missense			AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916	54627	54627			29265	protein-coding gene	gene with protein product	microtubule regulator 120 KDa		KIAA1383	KIAA1383	NA	23264731	Standard	NM_019090	NM_019090	NA	Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.736C>A	1.37:g.232941505C>A	ENSP00000403208:p.Leu246Met	NA		37	CCDS44334.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185019	0.78677	.	.	ENSG00000212916	ENST00000418460	.	.	.	5.25	1.23	0.21249	.	0.000000	0.43747	U	0.000525	T	0.65354	0.2683	M	0.77103	2.36	0.34111	D	0.663038	D	0.71674	0.998	D	0.65443	0.935	T	0.70868	-0.4755	9	0.87932	D	0	-7.3523	6.5493	0.22425	0.1271:0.6683:0.0:0.2046	.	104	Q9P2G4	K1383_HUMAN	M	246	.	ENSP00000403208:L246M	L	+	1	2	KIAA1383	231008128	0.026000	0.19158	0.024000	0.17045	0.931000	0.56810	0.651000	0.24873	0.033000	0.15463	0.555000	0.69702	CTG	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092317.3		+	ENST00000418460.1	Missense_Mutation	SNP	1 : 232941505 - 232941505 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	162	27
CNTNAP2	26047	broad.mit.edu	37	7	147092868	147092868	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:147092868G>C	ENST00000361727.3	+	10	2182	c.1666G>C	c.(1666-1668)Gac>Cac	p.D556H		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	556	EGF-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGCGATCATAGACAGGTAAAT	0.413		NA								HNSCC(39;0.1)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	115	120			NA	NA	7		NA											NA				147092868		2203	4299	6502	SO:0001583	missense			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469	26047	26047			13830	protein-coding gene	gene with protein product		604569			NA	10624965, 10048485	Standard		NM_014141	NA	Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1666G>C	7.37:g.147092868G>C	ENSP00000354778:p.Asp556His	NA	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	37	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406066	0.83230	.	.	ENSG00000174469	ENST00000361727	T	0.76578	-1.03	5.27	5.27	0.74061	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	D	0.90338	0.6977	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92245	0.5804	10	0.87932	D	0	.	17.4973	0.87722	0.0:0.0:1.0:0.0	.	556	Q9UHC6	CNTP2_HUMAN	H	556	ENSP00000354778:D556H	ENSP00000354778:D556H	D	+	1	0	CNTNAP2	146723801	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.321000	0.96353	2.475000	0.83589	0.591000	0.81541	GAC	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327668.1		+	ENST00000361727.3	Missense_Mutation	SNP	7 : 147092868 - 147092868 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	563	87
ZNF345	25850	broad.mit.edu	37	19	37368905	37368905	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37368905C>T	ENST00000529555.1	+	2	1961	c.1173C>T	c.(1171-1173)atC>atT	p.I391I	ZNF345_ENST00000589046.1_Silent_p.I391I|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000420450.1_Silent_p.I391I|ZNF345_ENST00000432005.2_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	391					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACCAGCTAATCCATACTGGTG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	80	82			NA	NA	19		NA											NA				37368905		2203	4300	6503	SO:0001819	synonymous_variant			X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247	25850	25850		Zinc fingers, C2H2-type	16367	protein-coding gene	gene with protein product					NA	7865130	Standard		NM_003419	NA	Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.1173C>T	19.37:g.37368905C>T		NA		37	CCDS12497.1																																																																																			ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388258.1		+	ENST00000529555.1	Silent	SNP	19 : 37368905 - 37368905 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	16
CCDC88C	440193	broad.mit.edu	37	14	91766410	91766410	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91766410C>T	ENST00000389857.6	-	21	3726	c.3640G>A	c.(3640-3642)Ggt>Agt	p.G1214S		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1214					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				AGCATGTCACCGTGCCTGTTG	0.617		NA											C	1	5e-04	NA	NA	2184	NA	0.9995	,	,	NA	4e-04	0.0013	NA	NA	7e-04	0.5838	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0								C	SER/GLY	0,4202		0,0,2101	21	24	23		3640	-4.3	0	14		23	11,8453		0,11,4221	yes	missense	CCDC88C	NM_001080414.3	56	0,11,6322	TT,TC,CC	NA	0.13,0.0,0.0868	benign	1214/2029	91766410	11,12655	2101	4232	6333	SO:0001583	missense				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133	440193	440193			19967	protein-coding gene	gene with protein product	Dvl-associating protein with a high frequency of leucine residues, spinocerebellar ataxia 40	611204	KIAA1509	KIAA1509	NA	17185515, 25062847	Standard	XM_029353	NM_001080414	NA	Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.3640G>A	14.37:g.91766410C>T	ENSP00000374507:p.Gly1214Ser	NA	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	37	CCDS45151.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	6.112	0.388845	0.11581	0.0	0.0013	ENSG00000015133	ENST00000389857	T	0.12984	2.63	5.24	-4.35	0.03656	.	1.052770	0.07579	N	0.919860	T	0.06280	0.0162	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.40117	-0.9580	10	0.36615	T	0.2	-1.4689	13.216	0.59861	0.0:0.2191:0.0:0.7809	.	1214	Q9P219	DAPLE_HUMAN	S	1214	ENSP00000374507:G1214S	ENSP00000374507:G1214S	G	-	1	0	CCDC88C	90836163	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.000000	0.12993	-0.734000	0.04843	-1.058000	0.02302	GGT	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411650.1		-	ENST00000389857.6	Missense_Mutation	SNP	14 : 91766410 - 91766410 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	84	10
ICAM2	3384	broad.mit.edu	37	17	62080179	62080179	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62080179C>T	ENST00000412356.1	-	6	1110	c.756G>A	c.(754-756)ttG>ttA	p.L252L	ICAM2_ENST00000578892.1_Silent_p.L228L|ICAM2_ENST00000579788.1_Silent_p.L252L|C17orf72_ENST00000412177.1_3'UTR|ICAM2_ENST00000449662.2_Silent_p.L252L|ICAM2_ENST00000578379.1_Silent_p.L151L|ICAM2_ENST00000579687.1_Silent_p.L252L|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000418105.1_Silent_p.L252L	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	252					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						GCTGCTGGCGCAAGTGCTGGC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	62	69			NA	NA	17		NA											NA				62080179		2203	4300	6503	SO:0001819	synonymous_variant				CCDS11657.1	17q23.3	2014-01-30			ENSG00000108622	ENSG00000108622	3384	3384		CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Endogenous ligands	5345	protein-coding gene	gene with protein product		146630			NA	1769660	Standard		NM_001099786	NA	Approved	CD102	uc002jdx.4	P13598		ENST00000412356.1:c.756G>A	17.37:g.62080179C>T		NA	Q14600	37	CCDS11657.1																																																																																			ICAM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443687.1		-	ENST00000412356.1	Silent	SNP	17 : 62080179 - 62080179 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	190	31
FIP1L1	81608	broad.mit.edu	37	4	54319276	54319276	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54319276G>T	ENST00000337488.6	+	16	1669	c.1475G>T	c.(1474-1476)aGt>aTt	p.S492I	FIP1L1_ENST00000306932.6_Missense_Mutation_p.S418I|FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000358575.5_Missense_Mutation_p.S486I	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	492	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing	nucleus	RNA binding			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CGTGATCACAGTCCTACACCA	0.438		NA	T	PDGFRA	idiopathic hypereosinophilic syndrome									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		4	4q12	81608	FIP1 like 1 (S. cerevisiae)		L	0													73	64	67			NA	NA	4		NA											NA				54319276		2203	4300	6503	SO:0001583	missense			AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216	81608	81608			19124	protein-coding gene	gene with protein product		607686	FIP1 like 1 (S. cerevisiae), FIP1L1 cleavage and polyadenylation specific factor subunit		NA	11230166, 14749727	Standard	NM_030917	NM_030917	NA	Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1475G>T	4.37:g.54319276G>T	ENSP00000336752:p.Ser492Ile	NA	Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	37	CCDS3491.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397827	0.83120	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000306932;ENST00000504094	T;T;T	0.23348	1.91;1.91;2.44	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.49779	0.1577	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.64830	0.994;0.99;0.994;0.99	D;D;D;D	0.71870	0.975;0.944;0.975;0.962	T	0.46762	-0.9168	10	0.87932	D	0	-18.3904	19.2835	0.94061	0.0:0.0:1.0:0.0	.	486;486;418;492	G3XAD6;B4DIR3;Q6UN15-3;Q6UN15	.;.;.;FIP1_HUMAN	I	492;486;418;149	ENSP00000336752:S492I;ENSP00000351383:S486I;ENSP00000302993:S418I	ENSP00000302993:S418I	S	+	2	0	FIP1L1	54014033	1.000000	0.71417	0.965000	0.40720	0.791000	0.44710	7.484000	0.81180	2.641000	0.89580	0.655000	0.94253	AGT	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250602.1		+	ENST00000337488.6	Missense_Mutation	SNP	4 : 54319276 - 54319276 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	436	81
HERC1	8925	broad.mit.edu	37	15	63916522	63916522	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63916522C>T	ENST00000443617.2	-	72	13367	c.13280G>A	c.(13279-13281)aGc>aAc	p.S4427N		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4427					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ATGGGATGTGCTGTTCTGTAA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	113	116			NA	NA	15		NA											NA				63916522		1886	4126	6012	SO:0001583	missense			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657	8925	8925		WD repeat domain containing	4867	protein-coding gene	gene with protein product		605109	hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1		NA	8861955, 9233772	Standard	NM_003922	NM_003922	NA	Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.13280G>A	15.37:g.63916522C>T	ENSP00000390158:p.Ser4427Asn	NA	Q8IW65	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.614439	0.66672	.	.	ENSG00000103657	ENST00000443617	T	0.25085	1.82	5.3	5.3	0.74995	.	0.056069	0.64402	U	0.000003	T	0.20941	0.0504	N	0.22421	0.69	0.45762	D	0.998653	B	0.06786	0.001	B	0.04013	0.001	T	0.03095	-1.1073	10	0.30078	T	0.28	.	19.3238	0.94253	0.0:1.0:0.0:0.0	.	4427	Q15751	HERC1_HUMAN	N	4427	ENSP00000390158:S4427N	ENSP00000390158:S4427N	S	-	2	0	HERC1	61703575	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	5.797000	0.69087	2.614000	0.88457	0.655000	0.94253	AGC	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418523.1		-	ENST00000443617.2	Missense_Mutation	SNP	15 : 63916522 - 63916522 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	472	72
B4GALNT4	338707	broad.mit.edu	37	11	373496	373496	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:373496C>A	ENST00000329962.6	+	7	684	c.684C>A	c.(682-684)tcC>tcA	p.S228S		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	228						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTTCAGCTCCCAGGTGTCCA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	87	86			NA	NA	11		NA											NA				373496		2197	4297	6494	SO:0001819	synonymous_variant			AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	338707	338707	2.4.1.-	Beta 4-glycosyltransferases	26315	protein-coding gene	gene with protein product					NA	15044014	Standard	NM_178537	NM_178537	NA	Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.684C>A	11.37:g.373496C>A		NA	Q96LV2	37	CCDS7694.1																																																																																			B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239289.2		+	ENST00000329962.6	Silent	SNP	11 : 373496 - 373496 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	573	70
KIDINS220	57498	broad.mit.edu	37	2	8926424	8926424	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8926424C>T	ENST00000256707.3	-	16	2032	c.1851G>A	c.(1849-1851)atG>atA	p.M617I	KIDINS220_ENST00000473731.1_Missense_Mutation_p.M617I|KIDINS220_ENST00000418530.1_Missense_Mutation_p.M575I|KIDINS220_ENST00000319688.5_Missense_Mutation_p.M618I|KIDINS220_ENST00000427284.1_Missense_Mutation_p.M617I	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	617	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GGGTTGCAATCATTTCAGCCA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	153	156			NA	NA	2		NA											NA				8926424		1846	4087	5933	SO:0001583	missense			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313	57498	57498		Ankyrin repeat domain containing	29508	protein-coding gene	gene with protein product	ankyrin repeat-rich membrane-spanning protein	615759			NA	10998417, 10574462	Standard	NM_020738	NM_020738	NA	Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1851G>A	2.37:g.8926424C>T	ENSP00000256707:p.Met617Ile	NA	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	37	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834841	0.91036	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55	6.07	6.07	0.98685	KAP P-loop (1);	0.000000	0.85682	D	0.000000	T	0.51024	0.1650	L	0.42744	1.35	0.80722	D	1	D;D;D;D	0.76494	0.969;0.999;0.979;0.983	D;D;D;D	0.91635	0.968;0.999;0.986;0.992	T	0.22277	-1.0221	10	0.38643	T	0.18	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	618;618;575;617	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	I	364;301;617;617;575;617;618;618	ENSP00000420364:M364I;ENSP00000256707:M617I;ENSP00000411849:M617I;ENSP00000414923:M575I;ENSP00000418974:M617I;ENSP00000419964:M618I;ENSP00000319947:M618I	ENSP00000256707:M617I	M	-	3	0	KIDINS220	8843875	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.770000	0.85390	2.885000	0.99019	0.655000	0.94253	ATG	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323408.2		-	ENST00000256707.3	Missense_Mutation	SNP	2 : 8926424 - 8926424 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1094	78
RALBP1	10928	broad.mit.edu	37	18	9513171	9513171	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9513171G>A	ENST00000019317.4	+	2	351	c.128G>A	c.(127-129)cGc>cAc	p.R43H	RALBP1_ENST00000383432.3_Missense_Mutation_p.R43H			Q15311	RBP1_HUMAN	ralA binding protein 1	43					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						GGATTGTACCGCACTGGCGAG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	0,4406		0,0,2203	61	60	60		128	5.1	1	18		60	1,8599	1.2+/-3.3	0,1,4299	no	missense	RALBP1	NM_006788.3	29	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	43/656	9513171	1,13005	2203	4300	6503	SO:0001583	missense			L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797	10928	10928			9841	protein-coding gene	gene with protein product		605801			NA	7673236	Standard	NM_006788	NM_006788	NA	Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.128G>A	18.37:g.9513171G>A	ENSP00000019317:p.Arg43His	NA	D3DUI0	37	CCDS11845.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800218	0.70567	0.0	1.16E-4	ENSG00000017797	ENST00000019317;ENST00000383432;ENST00000458039	T;T	0.11930	2.73;2.73	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.12817	0.0311	L	0.29908	0.895	0.80722	D	1	B	0.29766	0.256	B	0.24701	0.055	T	0.06285	-1.0835	10	0.48119	T	0.1	-10.9518	18.8686	0.92303	0.0:0.0:1.0:0.0	.	43	Q15311	RBP1_HUMAN	H	43	ENSP00000019317:R43H;ENSP00000372924:R43H	ENSP00000019317:R43H	R	+	2	0	RALBP1	9503171	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	9.499000	0.97975	2.520000	0.84964	0.462000	0.41574	CGC	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254479.1		+	ENST00000019317.4	Missense_Mutation	SNP	18 : 9513171 - 9513171 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	339	64
SYNE2	23224	broad.mit.edu	37	14	64520359	64520359	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64520359G>T	ENST00000554584.1	+	48	9878	c.9827G>T	c.(9826-9828)aGc>aTc	p.S3276I	SYNE2_ENST00000344113.4_Missense_Mutation_p.S3243I|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.S3243I			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3243					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTTAACACAAGCATTGATTTG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	64	66			NA	NA	14		NA											NA				64520359		1917	4133	6050	SO:0001583	missense			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654	23224	23224			17084	protein-coding gene	gene with protein product	nuclear envelope spectrin repeat-2, nucleus and actin connecting element	608442			NA	10231032, 10878022	Standard	NM_182914	NM_182910	NA	Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000554584.1:c.9827G>T	14.37:g.64520359G>T	ENSP00000452570:p.Ser3276Ile	NA	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	37		.	.	.	.	.	.	.	.	.	.	G	12.66	2.004126	0.35320	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.34667	1.35;1.35;1.35	5.67	3.84	0.44239	.	0.179555	0.40818	N	0.001004	T	0.36552	0.0971	L	0.27053	0.805	0.80722	D	1	D;D	0.65815	0.991;0.995	P;P	0.61201	0.77;0.885	T	0.12656	-1.0539	10	0.34782	T	0.22	.	5.7365	0.18069	0.306:0.0:0.694:0.0	.	3243;3243	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	I	3243;3243;3276;3276	ENSP00000350719:S3243I;ENSP00000341781:S3243I;ENSP00000452570:S3276I	ENSP00000261678:S3276I	S	+	2	0	SYNE2	63590112	1.000000	0.71417	0.165000	0.22776	0.703000	0.40648	1.600000	0.36762	1.403000	0.46800	0.563000	0.77884	AGC	SYNE2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000411905.1		+	ENST00000554584.1	Missense_Mutation	SNP	14 : 64520359 - 64520359 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	59
SEL1L2	80343	broad.mit.edu	37	20	13830889	13830889	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13830889G>A	ENST00000284951.5	-	19	1969	c.1895C>T	c.(1894-1896)gCc>gTc	p.A632V	SEL1L2_ENST00000378072.5_Missense_Mutation_p.A519V|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	632						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TTTCATGACGGCAAAGAGCAC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	110	111			NA	NA	20		NA											NA				13830889		1988	4163	6151	SO:0001583	missense			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251	80343	80343			15897	protein-coding gene	gene with protein product		614289	chromosome 20 open reading frame 50	C20orf50	NA		Standard	NM_025229	NM_001271539	NA	Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1895C>T	20.37:g.13830889G>A	ENSP00000284951:p.Ala632Val	NA		37		.	.	.	.	.	.	.	.	.	.	G	35	5.457295	0.96223	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.58940	0.3;1.77	5.97	5.97	0.96955	.	0.092184	0.47852	D	0.000215	T	0.77505	0.4140	M	0.77313	2.365	0.58432	D	0.999999	D;D	0.76494	0.997;0.999	D;D	0.80764	0.985;0.994	T	0.78494	-0.2182	10	0.66056	D	0.02	-4.6879	17.9177	0.88957	0.0:0.0:1.0:0.0	.	519;632	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	V	519;632	ENSP00000367312:A519V;ENSP00000284951:A632V	ENSP00000284951:A632V	A	-	2	0	SEL1L2	13778889	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.775000	0.91772	2.828000	0.97474	0.655000	0.94253	GCC	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000078067.3		-	ENST00000284951.5	Missense_Mutation	SNP	20 : 13830889 - 13830889 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	396	77
PSEN1	5663	broad.mit.edu	37	14	73673163	73673163	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73673163C>T	ENST00000406768.1	+	7	2484	c.662C>T	c.(661-663)tCc>tTc	p.S221F	PSEN1_ENST00000344094.3_Missense_Mutation_p.S313F|PSEN1_ENST00000394164.1_Missense_Mutation_p.S309F|PSEN1_ENST00000557511.1_Missense_Mutation_p.S313F|PSEN1_ENST00000357710.4_Missense_Mutation_p.S309F|PSEN1_ENST00000261970.3_Missense_Mutation_p.S313F|PSEN1_ENST00000324501.5_Missense_Mutation_p.S313F			P49768	PSN1_HUMAN	presenilin 1	313					amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		TCCAAAAATTCCAAGTATAAT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	86	87			NA	NA	14		NA											NA				73673163		2203	4300	6503	SO:0001583	missense			AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815	5663	5663			9508	protein-coding gene	gene with protein product		104311	Alzheimer disease 3	AD3	NA	1411576	Standard		NM_007318	NA	Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000406768.1:c.662C>T	14.37:g.73673163C>T	ENSP00000385948:p.Ser221Phe	NA	B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	37		.	.	.	.	.	.	.	.	.	.	C	10.25	1.298744	0.23650	.	.	ENSG00000080815	ENST00000324501;ENST00000357710;ENST00000261970;ENST00000344094;ENST00000394164;ENST00000557511;ENST00000406768	D;D;D;D;D;D;D	0.99667	-6.34;-6.34;-6.1;-6.1;-6.34;-6.1;-6.34	5.53	5.53	0.82687	.	0.350494	0.34088	N	0.004280	D	0.99190	0.9719	L	0.60455	1.87	0.27257	N	0.958745	B;P	0.35192	0.122;0.489	B;P	0.50136	0.285;0.632	D	0.97887	1.0295	10	0.24483	T	0.36	-3.8894	13.9605	0.64175	0.1519:0.848:0.0:0.0	.	309;313	P49768-2;P49768	.;PSN1_HUMAN	F	313;309;313;313;309;313;221	ENSP00000326366:S313F;ENSP00000350342:S309F;ENSP00000261970:S313F;ENSP00000339523:S313F;ENSP00000377719:S309F;ENSP00000451429:S313F;ENSP00000385948:S221F	ENSP00000261970:S313F	S	+	2	0	PSEN1	72742916	0.998000	0.40836	0.920000	0.36463	0.149000	0.21700	3.541000	0.53618	2.587000	0.87381	0.650000	0.86243	TCC	PSEN1-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000280504.3		+	ENST00000406768.1	Missense_Mutation	SNP	14 : 73673163 - 73673163 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	303	58
CATSPER1	117144	broad.mit.edu	37	11	65789270	65789270	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65789270G>T	ENST00000312106.5	-	3	1647	c.1510C>A	c.(1510-1512)Ctc>Atc	p.L504I		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	504					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	p.L504I(1)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						AAGTACGAGAGGCCCAGGGCG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											147	131	137			NA	NA	11		NA											NA				65789270		2201	4296	6497	SO:0001583	missense			AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294	117144	117144		Voltage-gated ion channels / Cation channels, sperm associated	17116	protein-coding gene	gene with protein product		606389			NA	11675491, 11595941, 16382101	Standard	NM_053054	NM_053054	NA	Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.1510C>A	11.37:g.65789270G>T	ENSP00000309052:p.Leu504Ile	NA	Q96P76	37	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.873057	0.51695	.	.	ENSG00000175294	ENST00000312106	D	0.98531	-4.98	4.7	-6.21	0.02065	Ion transport (1);	0.934142	0.08680	N	0.909567	D	0.96331	0.8803	L	0.46741	1.465	0.09310	N	1	P	0.43750	0.816	P	0.52109	0.69	D	0.92423	0.5947	10	0.45353	T	0.12	-2.6813	3.1811	0.06584	0.542:0.1214:0.2138:0.1228	.	504	Q8NEC5	CTSR1_HUMAN	I	504	ENSP00000309052:L504I	ENSP00000309052:L504I	L	-	1	0	CATSPER1	65545846	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.250000	0.02885	-1.305000	0.02327	0.448000	0.29417	CTC	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391055.1		-	ENST00000312106.5	Missense_Mutation	SNP	11 : 65789270 - 65789270 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	421	82
VPS37A	137492	broad.mit.edu	37	8	17125834	17125834	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17125834T>G	ENST00000324849.4	+	3	942	c.268T>G	c.(268-270)Tta>Gta	p.L90V	VPS37A_ENST00000324815.3_Missense_Mutation_p.L90V|VPS37A_ENST00000521829.1_Missense_Mutation_p.L65V	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	90					cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		ACGACATCACTTAATGGATAA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	115	117			NA	NA	8		NA											NA				17125834		2203	4300	6503	SO:0001583	missense				CCDS6001.1, CCDS47811.1	8p22	2012-06-29	2006-04-04		ENSG00000155975	ENSG00000155975	137492	137492			24928	protein-coding gene	gene with protein product	hepatocellular carcinoma related protein 1	609927	vacuolar protein sorting 37A (yeast), polyglutamine binding protein 2	PQBP2	NA	15240819, 15218037, 22717650	Standard	NM_152415	NM_152415	NA	Approved	FLJ32642, HCRP1, SPG53	uc003wxj.3	Q8NEZ2	OTTHUMG00000130785	ENST00000324849.4:c.268T>G	8.37:g.17125834T>G	ENSP00000318629:p.Leu90Val	NA	Q336D5|Q6NW27|Q8N3D7|Q8TBL7|Q96DL9	37	CCDS6001.1	.	.	.	.	.	.	.	.	.	.	T	17.16	3.319355	0.60524	.	.	ENSG00000155975	ENST00000324849;ENST00000324815;ENST00000518038;ENST00000521829	T;T	0.56941	0.43;0.43	4.8	3.64	0.41730	Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.64402	D	0.000001	T	0.63792	0.2541	L	0.60455	1.87	0.46725	D	0.999173	D;D	0.71674	0.998;0.997	D;D	0.78314	0.941;0.991	T	0.61402	-0.7070	10	0.42905	T	0.14	-11.377	8.205	0.31449	0.0:0.2322:0.0:0.7678	.	65;90	Q8NEZ2-2;Q8NEZ2	.;VP37A_HUMAN	V	90;90;101;65	ENSP00000318629:L90V;ENSP00000429680:L65V	ENSP00000318173:L90V	L	+	1	2	VPS37A	17170205	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.858000	0.48356	0.935000	0.37341	0.533000	0.62120	TTA	VPS37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253301.2		+	ENST00000324849.4	Missense_Mutation	SNP	8 : 17125834 - 17125834 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	311	54
C7orf43	55262	broad.mit.edu	37	7	99754543	99754543	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99754543C>T	ENST00000316937.3	-	6	1103	c.918G>A	c.(916-918)ccG>ccA	p.P306P	C7orf43_ENST00000419841.1_Silent_p.P74P|C7orf43_ENST00000498638.1_5'UTR|C7orf43_ENST00000457641.1_Silent_p.P37P	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	306										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGCATTCAGCGGGCAGGGGA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	67	63			NA	NA	7		NA											NA				99754543		2203	4300	6503	SO:0001819	synonymous_variant				CCDS5687.1	7q22.1	2011-11-25			ENSG00000146826	ENSG00000146826	55262	55262			25604	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_018275	NM_018275	NA	Approved	FLJ10925	uc003utr.3	Q8WVR3	OTTHUMG00000154862	ENST00000316937.3:c.918G>A	7.37:g.99754543C>T		NA	A4D2A9|D6W5U4|Q9BQJ1|Q9BUB6|Q9NV47	37	CCDS5687.1	.	.	.	.	.	.	.	.	.	.	C	8.940	0.965655	0.18583	.	.	ENSG00000146826	ENST00000456769	.	.	.	5.58	-8.24	0.01029	.	.	.	.	.	T	0.47322	0.1439	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55560	-0.8122	4	.	.	.	-6.2269	8.0696	0.30680	0.2449:0.5458:0.0:0.2093	.	.	.	.	T	212	.	.	A	-	1	0	C7orf43	99592479	0.002000	0.14202	0.911000	0.35937	0.837000	0.47467	-1.707000	0.01893	-0.841000	0.04200	-0.487000	0.04747	GCT	C7orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337395.2		-	ENST00000316937.3	Silent	SNP	7 : 99754543 - 99754543 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	511	18
CSMD3	114788	broad.mit.edu	37	8	114186024	114186024	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:114186024G>A	ENST00000297405.5	-	4	880	c.636C>T	c.(634-636)ggC>ggT	p.G212G	CSMD3_ENST00000343508.3_Silent_p.G172G|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000455883.2_Silent_p.G212G|CSMD3_ENST00000352409.3_Silent_p.G212G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	212	Sushi 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCTGAGGGTGGCCATCAAGGA	0.443		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	128	132			NA	NA	8		NA											NA				114186024		2203	4300	6503	SO:0001819	synonymous_variant			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796	114788	114788			19291	protein-coding gene	gene with protein product		608399			NA		Standard	NM_052900	NM_052900	NA	Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.636C>T	8.37:g.114186024G>A		NA	Q96PZ3	37	CCDS6315.1																																																																																			CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347141.1		-	ENST00000297405.5	Silent	SNP	8 : 114186024 - 114186024 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	669	136
SMARCA4	6597	broad.mit.edu	37	19	11144146	11144146	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11144146C>T	ENST00000538456.3	+	0	35				SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1243W|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1243W|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R1243W|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1243W|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1243W|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1243W			P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	NA					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.R1243W(3)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CAGCCATGAGCGGCGCGCCTT	0.637		NA	F, N, Mis		NSCLC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		19	19p13.2	6597	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4		E	4	Substitution - Missense(3)|Unknown(1)	kidney(2)|lung(1)|central_nervous_system(1)											86	86	86			NA	NA	19		NA											NA				11144146		2203	4300	6503	SO:0001624	3_prime_UTR_variant			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616	6597	6597			11100	protein-coding gene	gene with protein product	SNF2-like 4, global transcription activator homologous sequence, sucrose nonfermenting-like 4, mitotic growth and transcription activator, BRM/SWI2-related gene 1, homeotic gene regulator, nuclear protein GRB1, brahma protein-like 1, ATP-dependent helicase SMARCA4	603254		SNF2L4	NA	8208605	Standard	NM_003072	NM_003072	NA	Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000538456.3:c.*32C>T	19.37:g.11144146C>T		NA	O95052|Q9HBD3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.79|18.79	3.698723|3.698723	0.68501|0.68501	.|.	.|.	ENSG00000127616|ENSG00000127616	ENST00000538456|ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T|D;D;D;D;D;D;D	0.76060|0.95103	-0.99|-2.35;-2.34;-2.35;-3.61;-3.61;-3.61;-3.61	4.74|4.74	-4.88|-4.88	0.03113|0.03113	.|Helicase, C-terminal (1);	.|0.066410	.|0.64402	.|D	.|0.000011	D|D	0.96876|0.96876	0.8980|0.8980	M|M	0.89287|0.89287	3.02|3.02	0.47994|0.47994	D|D	0.999562|0.999562	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.999;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.97110	.|0.999;1.0;1.0;0.979;0.995;0.991;0.988	D|D	0.95985|0.95985	0.8981|0.8981	6|10	.|0.87932	.|D	.|0	-32.479|-32.479	16.3987|16.3987	0.83632|0.83632	0.6595:0.3405:0.0:0.0|0.6595:0.3405:0.0:0.0	.|.	.|1243;1243;1243;1243;1243;463;1243	.|B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532	.|.;.;.;.;.;.;SMCA4_HUMAN	V|W	12|1243;1243;1307;1243;1243;1243;1243;1243	ENSP00000443848:A12V|ENSP00000395654:R1243W;ENSP00000350720:R1243W;ENSP00000343896:R1243W;ENSP00000445036:R1243W;ENSP00000392837:R1243W;ENSP00000397783:R1243W;ENSP00000414727:R1243W	.|ENSP00000343896:R1243W	A|R	+|+	2|1	0|2	SMARCA4|SMARCA4	11005146|11005146	0.951000|0.951000	0.32395|0.32395	0.989000|0.989000	0.46669|0.46669	0.990000|0.990000	0.78478|0.78478	0.134000|0.134000	0.15932|0.15932	-0.414000|-0.414000	0.07495|0.07495	0.558000|0.558000	0.71614|0.71614	GCG|CGG	SMARCA4-006	KNOWN	non_canonical_conserved|mRNA_start_NF|mRNA_end_NF|basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000403240.3		+	ENST00000538456.3	3'UTR	SNP	19 : 11144146 - 11144146 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	725	24
NOX5	79400	broad.mit.edu	37	15	69324134	69324134	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69324134T>C	ENST00000260364.5	+	5	849	c.548T>C	c.(547-549)aTg>aCg	p.M183T	NOX5_ENST00000388866.3_Missense_Mutation_p.M201T|NOX5_ENST00000448182.3_Missense_Mutation_p.M155T|NOX5_ENST00000455873.3_Missense_Mutation_p.M166T|NOX5_ENST00000530406.2_Missense_Mutation_p.M173T			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	201	EF-hand 4.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CCCGGAGTCATGGAGAACCTG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								T	THR/MET,THR/MET,THR/MET	1,4397		0,1,2198	18	18	18		518,497,602	0.9	1	15		18	0,8596		0,0,4298	no	missense,missense,missense	NOX5	NM_001184779.1,NM_001184780.1,NM_024505.3	81,81,81	0,1,6496	CC,CT,TT	NA	0.0,0.0227,0.0077	benign,benign,benign	173/738,166/731,201/766	69324134	1,12993	2199	4298	6497	SO:0001583	missense			AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346	79400	79400		EF-hand domain containing	14874	protein-coding gene	gene with protein product		606572			NA	11483596	Standard	NM_024505	NM_001184779	NA	Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000260364.5:c.548T>C	15.37:g.69324134T>C	ENSP00000454143:p.Met183Thr	NA	B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	37		.	.	.	.	.	.	.	.	.	.	T	16.84	3.234200	0.58886	2.27E-4	0.0	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	T;T;T	0.66995	-0.24;1.6;-0.24	3.33	0.912	0.19349	EF-hand-like domain (1);	0.161027	0.52532	U	0.000077	T	0.49423	0.1556	L	0.41961	1.31	0.41937	D	0.990592	B;B;B	0.20550	0.046;0.022;0.019	B;B;B	0.14578	0.011;0.004;0.011	T	0.23226	-1.0194	10	0.13470	T	0.59	.	6.9543	0.24562	0.0:0.1942:0.0:0.8058	.	166;201;173	Q96PH1-6;Q96PH1;Q96PH1-3	.;NOX5_HUMAN;.	T	166;183;201;173	ENSP00000416828:M166T;ENSP00000373518:M201T;ENSP00000432440:M173T	ENSP00000373518:M201T	M	+	2	0	NOX5	67111188	1.000000	0.71417	0.962000	0.40283	0.849000	0.48306	3.638000	0.54332	-0.118000	0.11851	-0.628000	0.03992	ATG	NOX5-010	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000416639.1		+	ENST00000260364.5	Missense_Mutation	SNP	15 : 69324134 - 69324134 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	129	25
MYO7A	4647	broad.mit.edu	37	11	76912528	76912528	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76912528G>A	ENST00000409709.3	+	36	5160	c.4888G>A	c.(4888-4890)Gga>Aga	p.G1630R	MYO7A_ENST00000458637.2_Missense_Mutation_p.G1592R|MYO7A_ENST00000409619.2_Missense_Mutation_p.G1581R	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1630	SH3.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTTTGCCAAGGGAGACCTCAT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	68	66			NA	NA	11		NA											NA				76912528		2171	4246	6417	SO:0001583	missense			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474	4647	4647		A-kinase anchor proteins, Myosins / Myosin superfamily : Class VII	7606	protein-coding gene	gene with protein product		276903	myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))	USH1B, DFNB2, DFNA11	NA	8884266	Standard	NM_000260	NM_000260	NA	Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.4888G>A	11.37:g.76912528G>A	ENSP00000386331:p.Gly1630Arg	NA	P78427|Q13321|Q14785|Q92821|Q92822	37	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972120	0.92919	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169;ENST00000544424	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	4.58	4.58	0.56647	Src homology-3 domain (3);	0.000000	0.85682	D	0.000000	D	0.82305	0.5008	M	0.93808	3.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.87699	0.2559	10	0.87932	D	0	.	17.5911	0.87997	0.0:0.0:1.0:0.0	.	1581;1592;1630	B9A011;F8VUN5;Q13402	.;.;MYO7A_HUMAN	R	1630;1592;1581;803;1629;1599;1506;772;245	ENSP00000386331:G1630R;ENSP00000392185:G1592R;ENSP00000386635:G1581R;ENSP00000417017:G772R	ENSP00000345075:G1506R	G	+	1	0	MYO7A	76590176	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.222000	0.95196	2.375000	0.81037	0.561000	0.74099	GGA	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328133.1		+	ENST00000409709.3	Missense_Mutation	SNP	11 : 76912528 - 76912528 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	173	35
TTN	7273	broad.mit.edu	37	2	179481272	179481272	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179481272A>C	ENST00000589042.1	-	257	48470	c.48246T>G	c.(48244-48246)gaT>gaG	p.D16082E	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D13514E|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D14441E|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D7209E|TTN_ENST00000359218.5_Missense_Mutation_p.D7142E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D7017E|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14441	Ig-like 99.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACTTCCTCCATCATCATCAG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	154	157			NA	NA	2		NA											NA				179481272		1927	4127	6054	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.48246T>G	2.37:g.179481272A>C	ENSP00000467141:p.Asp16082Glu	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	A	11.31	1.601281	0.28534	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.91	4.75	0.60458	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69178	0.3082	M	0.86343	2.81	0.42975	D	0.99444	D;D;D;D	0.56746	0.977;0.977;0.977;0.977	P;P;P;P	0.55011	0.766;0.766;0.766;0.766	T	0.75016	-0.3466	9	0.87932	D	0	.	11.6649	0.51368	0.9305:0.0:0.0695:0.0	.	7017;7142;7209;14441	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	13514;7017;7209;7142;7017	ENSP00000343764:D13514E;ENSP00000434586:D7017E;ENSP00000340554:D7209E;ENSP00000352154:D7142E	ENSP00000340554:D7209E	D	-	3	2	TTN	179189517	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.093000	0.50217	1.061000	0.40601	-0.256000	0.11100	GAT	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179481272 - 179481272 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	674	165
PCDHB5	26167	broad.mit.edu	37	5	140516822	140516822	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140516822G>A	ENST00000231134.5	+	1	2023	c.1806G>A	c.(1804-1806)tcG>tcA	p.S602S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	602	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.S602S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGGCTGTCGTACCAGCTGC	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	endometrium(1)											36	40	38			NA	NA	5		NA											NA				140516822		2058	4034	6092	SO:0001819	synonymous_variant			AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209	26167	26167		Cadherins / Protocadherins : Clustered	8690	other	protocadherin		606331			NA	10380929	Standard	NM_015669	NM_015669	NA	Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1806G>A	5.37:g.140516822G>A		NA	Q549F4|Q9UFU9	37	CCDS4247.1																																																																																			PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251811.1		+	ENST00000231134.5	Silent	SNP	5 : 140516822 - 140516822 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	698	26
NMNAT3	349565	broad.mit.edu	37	3	139297773	139297773	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:139297773G>A	ENST00000339837.5	-	3	518	c.123C>T	c.(121-123)atC>atT	p.I41I	RP11-319G6.1_ENST00000381790.3_RNA|RP11-319G6.1_ENST00000515247.1_RNA|NMNAT3_ENST00000406824.1_5'UTR|NMNAT3_ENST00000413939.2_Intron|NMNAT3_ENST00000406164.1_Silent_p.I41I|NMNAT3_ENST00000511444.1_Silent_p.I41I|NMNAT3_ENST00000507242.1_5'UTR|NMNAT3_ENST00000296202.7_Silent_p.I78I|NMNAT3_ENST00000512391.1_Silent_p.I78I	NM_178177.3	NP_835471.1	Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	78					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity	p.I41I(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						GGTCCACCCGGATCCAGTCGG	0.587		NA												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)											119	99	106			NA	NA	3		NA											NA				139297773		2203	4300	6503	SO:0001819	synonymous_variant			AF345564	CCDS3111.1, CCDS56282.1	3q23	2013-09-20			ENSG00000163864	ENSG00000163864	349565	349565			20989	protein-coding gene	gene with protein product		608702			NA	12574164	Standard	NM_178177	NM_178177	NA	Approved	PNAT3	uc003etk.3	Q96T66	OTTHUMG00000159951	ENST00000339837.5:c.123C>T	3.37:g.139297773G>A		NA	D3DNF2|D3DNF3|Q8N4G1	37	CCDS3111.1																																																																																			NMNAT3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358466.1		-	ENST00000339837.5	Silent	SNP	3 : 139297773 - 139297773 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	42
DDX60L	91351	broad.mit.edu	37	4	169292909	169292909	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169292909G>T	ENST00000511577.1	-	36	5029	c.4782C>A	c.(4780-4782)atC>atA	p.I1594I	DDX60L_ENST00000260184.7_Silent_p.I1594I			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1594							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CTGTGCGCAGGATGACCTGAA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	68	68			NA	NA	4		NA											NA				169292909		2018	4175	6193	SO:0001819	synonymous_variant			AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381	91351	91351			26429	protein-coding gene	gene with protein product					NA		Standard	NM_001012967	XM_005263341	NA	Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.4782C>A	4.37:g.169292909G>T		NA	Q96ND6	37																																																																																				DDX60L-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000364839.1		-	ENST00000511577.1	Silent	SNP	4 : 169292909 - 169292909 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	115	18
SLC17A2	10246	broad.mit.edu	37	6	25915985	25915985	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25915985G>A	ENST00000360488.3	-	9	1459	c.1042C>T	c.(1042-1044)Cga>Tga	p.R348*	SLC17A2_ENST00000265425.3_Nonsense_Mutation_p.R348*|SLC17A2_ENST00000377850.3_Nonsense_Mutation_p.R348*	NM_005835.2	NP_005826.1	O00624	NPT3_HUMAN	solute carrier family 17, member 2	348					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						AAGAGCTTTCGCACAGTGATC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	87	87			NA	NA	6		NA											NA				25915985		2203	4300	6503	SO:0001587	stop_gained			U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337	10246	10246		Solute carriers	10930	protein-coding gene	gene with protein product		611049	solute carrier family 17 (sodium phosphate), member 2		NA	9149941	Standard		NM_001286123	NA	Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000360488.3:c.1042C>T	6.37:g.25915985G>A	ENSP00000353677:p.Arg348*	NA	A6NLD6|Q5TB84|Q76P85	37	CCDS4567.1	.	.	.	.	.	.	.	.	.	.	G	40	8.098953	0.98654	.	.	ENSG00000112337	ENST00000360488;ENST00000377850;ENST00000265425	.	.	.	4.93	3.12	0.35913	.	0.000000	0.44902	D	0.000402	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6349	0.45558	0.0:0.0:0.667:0.333	.	.	.	.	X	348	.	ENSP00000265425:R348X	R	-	1	2	SLC17A2	26023964	0.983000	0.35010	0.966000	0.40874	0.795000	0.44927	2.267000	0.43329	0.774000	0.33427	-0.975000	0.02590	CGA	SLC17A2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040074.1		-	ENST00000360488.3	Nonsense_Mutation	SNP	6 : 25915985 - 25915985 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	73
CELA1	1990	broad.mit.edu	37	12	51736376	51736376	+	Silent	SNP	G	G	A	rs141068541	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51736376G>A	ENST00000293636.1	-	4	349	c.309C>T	c.(307-309)agC>agT	p.S103S		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	103	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						CCACGTTATCGCTGTTCCAGT	0.577		NA											G	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.9547	EXOME	NA	NA	3e-04	SNP								NA				0								G		4,4402	9.9+/-24.2	0,4,2199	179	137	151		309	2.3	0.8	12	dbSNP_134	151	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CELA1	NM_001971.5		0,5,6498	AA,AG,GG	NA	0.0116,0.0908,0.0384		103/259	51736376	5,13001	2203	4300	6503	SO:0001819	synonymous_variant				CCDS8812.1	12q13	2012-10-02	2009-05-05	2009-05-05	ENSG00000139610	ENSG00000139610	1990	1990			3308	protein-coding gene	gene with protein product		130120	elastase 1, pancreatic	ELA1	NA		Standard	NM_001971	NM_001971	NA	Approved		uc001ryi.1	Q9UNI1	OTTHUMG00000167523	ENST00000293636.1:c.309C>T	12.37:g.51736376G>A		NA	Q5MLF0|Q6DJT0|Q6ISM6	37	CCDS8812.1																																																																																			CELA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394901.1		-	ENST00000293636.1	Silent	SNP	12 : 51736376 - 51736376 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	715	127
NFE2L1	4779	broad.mit.edu	37	17	46128755	46128755	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46128755G>T	ENST00000361665.3	+	2	879	c.275G>T	c.(274-276)aGg>aTg	p.R92M	NFE2L1_ENST00000585291.1_Missense_Mutation_p.R92M|NFE2L1_ENST00000357480.5_Missense_Mutation_p.R92M|NFE2L1_ENST00000362042.3_Missense_Mutation_p.R92M			Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	92					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCCCTGGACAGGTTCCAGGTG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	71	69			NA	NA	17		NA											NA				46128755		2203	4300	6503	SO:0001583	missense			AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641	4779	4779		basic leucine zipper proteins	7781	protein-coding gene	gene with protein product		163260	nuclear factor (erythroid-derived 2)-like 1	TCF11	NA	8248256, 9501099	Standard	NM_003204	NM_003204	NA	Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000361665.3:c.275G>T	17.37:g.46128755G>T	ENSP00000355190:p.Arg92Met	NA	D3DTU3|D3DTU5|Q12877|Q96FN6	37		.	.	.	.	.	.	.	.	.	.	G	11.85	1.760311	0.31137	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480	T;T	0.40225	1.04;1.04	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.63943	0.2554	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;P	0.79108	0.992;0.948;0.864	T	0.65051	-0.6262	10	0.54805	T	0.06	-11.4946	17.7252	0.88363	0.0:0.0:1.0:0.0	.	92;92;92	A3KMG6;Q14494-2;Q14494	.;.;NF2L1_HUMAN	M	111;92;92	ENSP00000355190:R92M;ENSP00000350072:R92M	ENSP00000350072:R92M	R	+	2	0	NFE2L1	43483754	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.576000	0.82467	2.495000	0.84180	0.563000	0.77884	AGG	NFE2L1-006	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000443024.1		+	ENST00000361665.3	Missense_Mutation	SNP	17 : 46128755 - 46128755 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	484	93
ADAMTS20	80070	broad.mit.edu	37	12	43886389	43886389	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:43886389T>G	ENST00000389420.3	-	6	994	c.995A>C	c.(994-996)aAc>aCc	p.N332T	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.N332T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	332	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGAACAAAAGTTCTTTAATGT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								T	THR/ASN	0,4406		0,0,2203	176	142	153		995	3.7	0.9	12		153	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAMTS20	NM_025003.3	65	0,1,6502	GG,GT,TT	NA	0.0116,0.0,0.0077	probably-damaging	332/1911	43886389	1,13005	2203	4300	6503	SO:0001583	missense			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157	80070	80070		ADAM metallopeptidases with thrombospondin type 1 motif	17178	protein-coding gene	gene with protein product		611681	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20		NA	12514189, 12562771	Standard	NM_025003	NM_025003	NA	Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.995A>C	12.37:g.43886389T>G	ENSP00000374071:p.Asn332Thr	NA	A6NNC9	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	T	14.61	2.588289	0.46110	0.0	1.16E-4	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	D;D	0.87179	-2.22;-2.22	4.79	3.65	0.41850	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.53938	D	0.000058	D	0.92031	0.7475	M	0.88775	2.98	0.80722	D	1	D	0.53885	0.963	P	0.56216	0.794	D	0.92147	0.5725	10	0.72032	D	0.01	.	10.5595	0.45138	0.0:0.0772:0.0:0.9228	.	332	P59510	ATS20_HUMAN	T	332	ENSP00000374071:N332T;ENSP00000448341:N332T	ENSP00000374068:N332T	N	-	2	0	ADAMTS20	42172656	1.000000	0.71417	0.922000	0.36590	0.027000	0.11550	4.622000	0.61240	0.940000	0.37473	0.455000	0.32223	AAC	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403643.1		-	ENST00000389420.3	Missense_Mutation	SNP	12 : 43886389 - 43886389 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	184	32
RPS6KA2	6196	broad.mit.edu	37	6	166902391	166902391	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:166902391C>T	ENST00000405189.3	-	10	902	c.570G>A	c.(568-570)ccG>ccA	p.P190P	RPS6KA2_ENST00000265678.4_Silent_p.P279P|RPS6KA2_ENST00000503859.1_Silent_p.P287P|RPS6KA2_ENST00000510118.1_Silent_p.P304P|RPS6KA2_ENST00000366863.2_Silent_p.P125P|RPS6KA2_ENST00000481261.2_Silent_p.P190P			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	279	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.P287P(1)|p.P279P(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TGAGGAACTGCGGCATCCCCA	0.537		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)											46	45	46			NA	NA	6		NA											NA				166902391		2203	4300	6503	SO:0001819	synonymous_variant			L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242	6196	6196			10431	protein-coding gene	gene with protein product		601685	ribosomal protein S6 kinase, 90kD, polypeptide 2		NA	8141249	Standard	NM_021135	NM_001006932	NA	Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000405189.3:c.570G>A	6.37:g.166902391C>T		NA	Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	37																																																																																				RPS6KA2-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000362838.2		-	ENST00000405189.3	Silent	SNP	6 : 166902391 - 166902391 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	155	22
PPP1R15A	23645	broad.mit.edu	37	19	49379046	49379046	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49379046G>A	ENST00000200453.5	+	3	2110	c.1841G>A	c.(1840-1842)aGa>aAa	p.R614K		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	614					apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GCCCGGGCCAGAGCCTGGGCA	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	134	128			NA	NA	19		NA											NA				49379046		2203	4300	6503	SO:0001583	missense			U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074	23645	23645		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	14375	protein-coding gene	gene with protein product	growth arrest and DNA-damage-inducible 34	611048	protein phosphatase 1, regulatory (inhibitor) subunit 15A		NA	9153226, 9413226	Standard	NM_014330	NM_014330	NA	Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.1841G>A	19.37:g.49379046G>A	ENSP00000200453:p.Arg614Lys	NA	Q6IA96|Q9NVU6	37	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485260	0.63962	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.15834	2.39	4.96	2.66	0.31614	Protein phosphatase 1, regulatory subunit 15A/B, C-terminal (1);	0.153148	0.39909	N	0.001222	T	0.15132	0.0365	L	0.35414	1.06	0.33439	D	0.582152	P	0.47484	0.896	P	0.47470	0.548	T	0.15492	-1.0435	10	0.66056	D	0.02	-17.293	6.0042	0.19537	0.1016:0.1936:0.7048:0.0	.	614	O75807	PR15A_HUMAN	K	614;454;572	ENSP00000200453:R614K	ENSP00000200453:R614K	R	+	2	0	PPP1R15A	54070858	0.728000	0.28080	1.000000	0.80357	0.997000	0.91878	1.044000	0.30329	1.404000	0.46819	0.655000	0.94253	AGA	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466226.1		+	ENST00000200453.5	Missense_Mutation	SNP	19 : 49379046 - 49379046 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2200	180
ZBTB20	26137	broad.mit.edu	37	3	114058034	114058034	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114058034C>T	ENST00000462705.1	-	12	2646	c.1825G>A	c.(1825-1827)Gcc>Acc	p.A609T	ZBTB20_ENST00000393785.2_Missense_Mutation_p.A609T|ZBTB20_ENST00000464560.1_Missense_Mutation_p.A609T|ZBTB20_ENST00000357258.3_Missense_Mutation_p.A609T|ZBTB20_ENST00000474710.1_Missense_Mutation_p.A682T|ZBTB20_ENST00000471418.1_Missense_Mutation_p.A609T|ZBTB20_ENST00000481632.1_Missense_Mutation_p.A609T	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	682					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CTGTGCAGGGCCACGTGTCGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(69;748 1344 9802 11203 30933)							NA				0													98	90	92			NA	NA	3		NA											NA				114058034		2203	4300	6503	SO:0001583	missense			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722	26137	26137		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	13503	protein-coding gene	gene with protein product		606025	zinc finger protein 288	ZNF288	NA	10965110, 11352661	Standard	NM_015642	XM_005247339	NA	Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000462705.1:c.1825G>A	3.37:g.114058034C>T	ENSP00000420324:p.Ala609Thr	NA	Q63HP6|Q8N6R5|Q9Y410	37	CCDS2981.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409447	0.83340	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.55673	0.1935	N	0.24115	0.695	0.80722	D	1	D	0.61697	0.99	P	0.60068	0.868	T	0.55444	-0.8140	10	0.59425	D	0.04	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	682	Q9HC78	ZBT20_HUMAN	T	609;609;609;609;682;609;609	ENSP00000420324:A609T;ENSP00000377375:A609T;ENSP00000418092:A609T;ENSP00000419902:A609T;ENSP00000419153:A682T;ENSP00000349803:A609T;ENSP00000417307:A609T	ENSP00000349803:A609T	A	-	1	0	ZBTB20	115540724	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	5.842000	0.69417	2.941000	0.99782	0.655000	0.94253	GCC	ZBTB20-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354954.1		-	ENST00000462705.1	Missense_Mutation	SNP	3 : 114058034 - 114058034 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	517	89
ZNF485	220992	broad.mit.edu	37	10	44112192	44112192	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44112192G>T	ENST00000361807.3	+	5	895	c.701G>T	c.(700-702)aGa>aTa	p.R234I	ZNF485_ENST00000374437.2_Missense_Mutation_p.R143I|ZNF485_ENST00000374435.3_Missense_Mutation_p.R234I	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						AGTCATCAGAGAATTCATACT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	58	56			NA	NA	10		NA											NA				44112192		2203	4300	6503	SO:0001583	missense			AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298	220992	220992		Zinc fingers, C2H2-type, -	23440	protein-coding gene	gene with protein product					NA		Standard	NM_145312	NM_145312	NA	Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.701G>T	10.37:g.44112192G>T	ENSP00000354694:p.Arg234Ile	NA	Q96CL0	37	CCDS7205.2	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300985	0.40694	.	.	ENSG00000198298	ENST00000361807;ENST00000374437;ENST00000374435	T;T;T	0.24908	1.83;1.83;1.83	2.34	2.34	0.29019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24928	0.0605	L	0.60904	1.88	0.44603	D	0.997574	P	0.36974	0.576	B	0.36289	0.221	T	0.15350	-1.0440	9	0.51188	T	0.08	.	10.772	0.46327	0.0:0.0:1.0:0.0	.	234	Q8NCK3	ZN485_HUMAN	I	234;143;234	ENSP00000354694:R234I;ENSP00000363560:R143I;ENSP00000363558:R234I	ENSP00000354694:R234I	R	+	2	0	ZNF485	43432198	0.004000	0.15560	0.999000	0.59377	0.949000	0.60115	1.362000	0.34148	1.613000	0.50231	0.462000	0.41574	AGA	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047719.2		+	ENST00000361807.3	Missense_Mutation	SNP	10 : 44112192 - 44112192 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	363	73
ZNF649	65251	broad.mit.edu	37	19	52394210	52394210	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52394210C>A	ENST00000354957.3	-	5	1463	c.1179G>T	c.(1177-1179)caG>caT	p.Q393H	CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Missense_Mutation_p.Q365H	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		AGTGAATTTTCTGATGTCTAA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	117	117			NA	NA	19		NA											NA				52394210		2203	4300	6503	SO:0001583	missense			BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093	65251	65251		Zinc fingers, C2H2-type, -	25741	protein-coding gene	gene with protein product		611903			NA	15950191	Standard	NM_023074	NM_023074	NA	Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.1179G>T	19.37:g.52394210C>A	ENSP00000347043:p.Gln393His	NA	A8MYJ5|B2RDC4|Q9H9N2	37	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	C	9.496	1.101881	0.20632	.	.	ENSG00000198093	ENST00000354957	T	0.18502	2.21	2.63	1.58	0.23477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13243	0.0321	L	0.48642	1.525	0.22017	N	0.99942	B	0.12013	0.005	B	0.10450	0.005	T	0.31613	-0.9937	9	0.51188	T	0.08	.	2.3609	0.04307	0.2421:0.4756:0.0:0.2823	.	393	Q9BS31	ZN649_HUMAN	H	393	ENSP00000347043:Q393H	ENSP00000347043:Q393H	Q	-	3	2	ZNF649	57086022	0.000000	0.05858	0.850000	0.33497	0.186000	0.23388	-0.279000	0.08479	0.318000	0.23185	0.404000	0.27445	CAG	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461097.1		-	ENST00000354957.3	Missense_Mutation	SNP	19 : 52394210 - 52394210 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	796	150
SLC4A3	6508	broad.mit.edu	37	2	220496996	220496996	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220496996C>T	ENST00000358055.3	+	8	1485	c.973C>T	c.(973-975)Ctg>Ttg	p.L325L	SLC4A3_ENST00000373760.2_Silent_p.L325L|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000273063.6_Silent_p.L352L|SLC4A3_ENST00000317151.3_Silent_p.L325L|SLC4A3_ENST00000373762.3_Silent_p.L352L			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	325					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTTCGTGGAGCTGAACGAGCT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	41	40			NA	NA	2		NA											NA				220496996		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923	6508	6508		Solute carriers	11029	protein-coding gene	gene with protein product	Anion exchanger 3, neuronal	106195	solute carrier family 4, anion exchanger, member 3		NA	8001971	Standard	NM_005070	NM_005070	NA	Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.973C>T	2.37:g.220496996C>T		NA	A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	37	CCDS2445.1																																																																																			SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316472.1		+	ENST00000358055.3	Silent	SNP	2 : 220496996 - 220496996 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	319	62
CELSR3	1951	broad.mit.edu	37	3	48698039	48698039	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48698039C>T	ENST00000164024.4	-	1	2309	c.2029G>A	c.(2029-2031)Gat>Aat	p.D677N	CELSR3_ENST00000544264.1_Missense_Mutation_p.D677N	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	677	Cadherin 4.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGTCTGCATCGACTGCCTGA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	69	71			NA	NA	3		NA											NA				48698039		2203	4300	6503	SO:0001583	missense			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300	1951	1951		Cadherins / Major cadherins, -, GPCR / Class B : Orphans	3230	protein-coding gene	gene with protein product	flamingo homolog 1 (Drosophila)	604264	cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog	EGFL1	NA	9693030	Standard	NM_001407	NM_001407	NA	Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.2029G>A	3.37:g.48698039C>T	ENSP00000164024:p.Asp677Asn	NA	O75092	37	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317535	0.81469	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.73152	-0.72;-0.72	5.84	5.84	0.93424	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.92067	0.7486	H	0.99379	4.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95019	0.8159	9	0.87932	D	0	.	20.1342	0.98015	0.0:1.0:0.0:0.0	.	677;747	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	N	677	ENSP00000164024:D677N;ENSP00000445694:D677N	ENSP00000164024:D677N	D	-	1	0	CELSR3	48673043	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.767000	0.85331	2.754000	0.94517	0.655000	0.94253	GAT	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257523.1		-	ENST00000164024.4	Missense_Mutation	SNP	3 : 48698039 - 48698039 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	298	61
KANSL1L	151050	broad.mit.edu	37	2	211018284	211018284	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211018284G>A	ENST00000281772.9	-	2	1286	c.1023C>T	c.(1021-1023)tcC>tcT	p.S341S	KANSL1L_ENST00000418791.1_Silent_p.S341S|KANSL1L_ENST00000452086.1_Silent_p.S341S|KANSL1L_ENST00000457374.1_Silent_p.S341S	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	341											NA						CAGTTGCATCGGAATCCAAAC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	110	112			NA	NA	2		NA											NA				211018284		2203	4300	6503	SO:0001819	synonymous_variant			AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445	151050	151050			26310	protein-coding gene	gene with protein product	KIAA1267-like	613833	chromosome 2 open reading frame 67	C2orf67	NA	12477932	Standard	NM_152519	NM_152519	NA	Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.1023C>T	2.37:g.211018284G>A		NA	B7ZLN1|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	37	CCDS33370.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.824|5.824	0.336318|0.336318	0.11013|0.11013	.|.	.|.	ENSG00000144445|ENSG00000144445	ENST00000438563;ENST00000415553|ENST00000428655	.|.	.|.	.|.	5.95|5.95	4.71|4.71	0.59529|0.59529	.|.	.|.	.|.	.|.	.|.	T|.	0.59891|.	0.2227|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.56306|.	-0.8001|.	4|.	.|.	.|.	.|.	.|.	9.1527|9.1527	0.36973|0.36973	0.7784:0.0:0.2216:0.0|0.7784:0.0:0.2216:0.0	.|.	.|.	.|.	.|.	L|X	15;60|36	.|.	.|.	P|R	-|-	2|1	0|2	C2orf67|C2orf67	210726529|210726529	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	1.054000|1.054000	0.30455|0.30455	0.965000|0.965000	0.38133|0.38133	-0.253000|-0.253000	0.11424|0.11424	CCG|CGA	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336633.3		-	ENST00000281772.9	Silent	SNP	2 : 211018284 - 211018284 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	563	146
SLC10A5	347051	broad.mit.edu	37	8	82606769	82606769	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82606769T>C	ENST00000518568.1	-	1	1640	c.439A>G	c.(439-441)Att>Gtt	p.I147V		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	147						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						AGTGGTAAAATAAGCATTAGG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	92	92			NA	NA	8		NA											NA				82606769		2203	4300	6503	SO:0001583	missense				CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598	347051	347051		Solute carriers	22981	protein-coding gene	gene with protein product					NA		Standard	XM_294493	NM_001010893	NA	Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.439A>G	8.37:g.82606769T>C	ENSP00000428612:p.Ile147Val	NA	B2RN26	37	CCDS34915.1	.	.	.	.	.	.	.	.	.	.	T	3.831	-0.035759	0.07497	.	.	ENSG00000253598	ENST00000518568	T	0.08546	3.08	6.17	-2.11	0.07187	.	0.780519	0.11152	N	0.594054	T	0.02533	0.0077	N	0.08118	0	0.09310	N	0.999997	B	0.06786	0.001	B	0.08055	0.003	T	0.44314	-0.9336	10	0.07990	T	0.79	-2.728	0.1022	0.00049	0.2512:0.2181:0.2353:0.2954	.	147	Q5PT55	NTCP5_HUMAN	V	147	ENSP00000428612:I147V	ENSP00000428612:I147V	I	-	1	0	SLC10A5	82769324	0.744000	0.28250	0.157000	0.22605	0.064000	0.16182	-0.299000	0.08254	-0.588000	0.05882	0.533000	0.62120	ATT	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379736.1		-	ENST00000518568.1	Missense_Mutation	SNP	8 : 82606769 - 82606769 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	398	71
RERG	85004	broad.mit.edu	37	12	15262298	15262298	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15262298C>T	ENST00000256953.2	-	5	682	c.346G>A	c.(346-348)Gtt>Att	p.V116I	RERG_ENST00000546331.1_Missense_Mutation_p.V97I|RERG_ENST00000538313.1_Missense_Mutation_p.V116I|RERG_ENST00000536465.1_Missense_Mutation_p.V116I	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	116					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						TTGTTTCCAACCAAGATGAGA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													261	242	248			NA	NA	12		NA											NA				15262298		2203	4300	6503	SO:0001583	missense			AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533	85004	85004			15980	protein-coding gene	gene with protein product		612664			NA	11533059	Standard	NM_032918	NM_032918	NA	Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.346G>A	12.37:g.15262298C>T	ENSP00000256953:p.Val116Ile	NA	B2R9R0	37	CCDS8673.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696700	0.88830	.	.	ENSG00000134533	ENST00000256953;ENST00000538313;ENST00000536465;ENST00000546331	D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78	5.33	5.33	0.75918	Small GTP-binding protein domain (1);	0.056076	0.64402	D	0.000001	D	0.87398	0.6167	L	0.58669	1.825	0.80722	D	1	P;P	0.46395	0.877;0.651	P;P	0.53861	0.736;0.736	D	0.87856	0.2661	10	0.59425	D	0.04	.	17.948	0.89045	0.0:1.0:0.0:0.0	.	97;116	B4DI02;Q96A58	.;RERG_HUMAN	I	116;116;116;97	ENSP00000256953:V116I;ENSP00000441505:V116I;ENSP00000438280:V116I;ENSP00000444485:V97I	ENSP00000256953:V116I	V	-	1	0	RERG	15153565	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.773000	0.62331	2.654000	0.90174	0.655000	0.94253	GTT	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400882.1		-	ENST00000256953.2	Missense_Mutation	SNP	12 : 15262298 - 15262298 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1158	232
EXPH5	23086	broad.mit.edu	37	11	108382146	108382146	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108382146G>T	ENST00000265843.4	-	6	4198	c.4088C>A	c.(4087-4089)gCt>gAt	p.A1363D	EXPH5_ENST00000428840.1_Missense_Mutation_p.A1287D|EXPH5_ENST00000525344.1_Missense_Mutation_p.A1356D|EXPH5_ENST00000443411.1_Missense_Mutation_p.A1175D	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	1363					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AATCTCTCTAGCTTTAGATTC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	41	41			NA	NA	11		NA											NA				108382146		2199	4294	6493	SO:0001583	missense				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723	23086	23086			30578	protein-coding gene	gene with protein product	synaptotagmin-like homologue lacking C2 domains b	612878			NA	9734811, 11773082	Standard	NM_015065	NM_015065	NA	Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.4088C>A	11.37:g.108382146G>T	ENSP00000265843:p.Ala1363Asp	NA		37	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090475	0.36855	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.04406	4.17;4.09;3.94;4.17;4.01;3.63	5.68	2.77	0.32553	.	0.962804	0.08651	N	0.914056	T	0.04861	0.0131	N	0.22421	0.69	0.09310	N	1	B	0.30973	0.302	B	0.36186	0.219	T	0.50004	-0.8878	10	0.30078	T	0.28	-0.0054	7.8658	0.29537	0.1439:0.1312:0.7249:0.0	.	1363	Q8NEV8	EXPH5_HUMAN	D	1363;1287;1175;1356;1287;1175	ENSP00000265843:A1363D;ENSP00000391966:A1287D;ENSP00000411390:A1175D;ENSP00000432546:A1356D;ENSP00000432683:A1287D;ENSP00000446434:A1175D	ENSP00000265843:A1363D	A	-	2	0	EXPH5	107887356	0.001000	0.12720	0.000000	0.03702	0.029000	0.11900	0.987000	0.29603	0.411000	0.25702	-0.216000	0.12614	GCT	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390279.1		-	ENST00000265843.4	Missense_Mutation	SNP	11 : 108382146 - 108382146 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	231	16
LPHN2	23266	broad.mit.edu	37	1	82416758	82416758	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:82416758G>A	ENST00000370728.1	+	10	2194	c.1549G>A	c.(1549-1551)Gat>Aat	p.D517N	LPHN2_ENST00000271029.4_Missense_Mutation_p.D517N|LPHN2_ENST00000370713.1_Missense_Mutation_p.D517N|LPHN2_ENST00000370727.1_Missense_Mutation_p.D517N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D517N|LPHN2_ENST00000370721.1_Missense_Mutation_p.D455N|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000359929.3_Missense_Mutation_p.D517N|LPHN2_ENST00000370725.1_Missense_Mutation_p.D517N|LPHN2_ENST00000335786.5_Missense_Mutation_p.D517N|LPHN2_ENST00000319517.6_Missense_Mutation_p.D517N|LPHN2_ENST00000370717.2_Missense_Mutation_p.D517N|LPHN2_ENST00000394879.1_Missense_Mutation_p.D517N|LPHN2_ENST00000370715.1_Missense_Mutation_p.D517N|LPHN2_ENST00000370723.1_Missense_Mutation_p.D517N			O95490	LPHN2_HUMAN	latrophilin 2	517					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TAAGGGCCCCGATCTTAGCAA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	114	116			NA	NA	1		NA											NA				82416758		2203	4300	6503	SO:0001583	missense			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114	23266	23266		-, GPCR / Class B : Orphans	18582	protein-coding gene	gene with protein product		607018	latrophilin 1	LPHH1	NA	10760572	Standard	NM_012302	XR_248786	NA	Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.1549G>A	1.37:g.82416758G>A	ENSP00000359763:p.Asp517Asn	NA	B1ALT8|B1ALT9|B1ALU0|O94882|Q5VX76|Q9UKY5|Q9UKY6	37		.	.	.	.	.	.	.	.	.	.	G	26.8	4.773127	0.90108	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.63861	0.2547	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.988;0.978;0.988	T	0.64257	-0.6450	10	0.87932	D	0	.	20.4192	0.99033	0.0:0.0:1.0:0.0	.	517;517;517	O95490-3;O95490-4;O95490-2	.;.;.	N	455;517;517;517;517;517;517;517;517;517;517;517;517;517	ENSP00000359756:D455N;ENSP00000359763:D517N;ENSP00000359765:D517N;ENSP00000359762:D517N;ENSP00000359760:D517N;ENSP00000359758:D517N;ENSP00000353006:D517N;ENSP00000359750:D517N;ENSP00000359748:D517N;ENSP00000322270:D517N;ENSP00000359752:D517N;ENSP00000378344:D517N;ENSP00000271029:D517N;ENSP00000337306:D517N	ENSP00000271029:D517N	D	+	1	0	LPHN2	82189346	1.000000	0.71417	0.980000	0.43619	0.997000	0.91878	9.869000	0.99810	2.831000	0.97527	0.650000	0.86243	GAT	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000027188.1		+	ENST00000370728.1	Missense_Mutation	SNP	1 : 82416758 - 82416758 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	444	42
SLC5A9	200010	broad.mit.edu	37	1	48695003	48695003	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:48695003G>A	ENST00000236495.5	+	5	501	c.451G>A	c.(451-453)Gtc>Atc	p.V151I	RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000438567.2_Missense_Mutation_p.V126I|SLC5A9_ENST00000533824.1_Missense_Mutation_p.V147I|SLC5A9_ENST00000420136.2_Missense_Mutation_p.V119I	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	126						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CTGGGTCTTCGTCCCTGTGTA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	96	102			NA	NA	1		NA											NA				48695003		2203	4300	6503	SO:0001583	missense			BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834	200010	200010		Solute carriers	22146	protein-coding gene	gene with protein product			solute carrier family 5 (sodium/glucose cotransporter), member 9		NA		Standard	XM_117174	NM_001011547	NA	Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000236495.5:c.451G>A	1.37:g.48695003G>A	ENSP00000236495:p.Val151Ile	NA	B3KY87|Q5TET3	37	CCDS44136.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221494	0.58560	.	.	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495;ENST00000420136	D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34	5.74	4.83	0.62350	.	0.118460	0.64402	N	0.000018	D	0.87924	0.6300	M	0.62266	1.93	0.58432	D	0.999999	D;P;D	0.58620	0.983;0.924;0.971	P;P;P	0.49477	0.523;0.495;0.612	D	0.86947	0.2083	10	0.35671	T	0.21	.	13.9411	0.64054	0.0724:0.0:0.9276:0.0	.	147;126;151	E9PJ08;Q2M3M2;E9PAK4	.;SC5A9_HUMAN;.	I	147;126;151;119	ENSP00000431900:V147I;ENSP00000401730:V126I;ENSP00000236495:V151I;ENSP00000408881:V119I	ENSP00000236495:V151I	V	+	1	0	SLC5A9	48467590	0.971000	0.33674	0.982000	0.44146	0.972000	0.66771	1.612000	0.36889	1.581000	0.49865	0.655000	0.94253	GTC	SLC5A9-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021841.5		+	ENST00000236495.5	Missense_Mutation	SNP	1 : 48695003 - 48695003 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	305	27
ACACB	32	broad.mit.edu	37	12	109605787	109605787	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109605787G>A	ENST00000338432.7	+	4	992	c.873G>A	c.(871-873)cgG>cgA	p.R291R	ACACB_ENST00000377848.3_Silent_p.R291R|ACACB_ENST00000377854.5_Silent_p.R291R			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	291	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GCAACGAGCGGGCCATCCGGT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	100	120			NA	NA	12		NA											NA				109605787		2203	4300	6503	SO:0001819	synonymous_variant			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	32	32	6.4.1.2		85	protein-coding gene	gene with protein product	acetyl-CoA carboxylase 2	601557	acetyl-Coenzyme A carboxylase beta		NA	8670171	Standard	NM_001093	NM_001093	NA	Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.873G>A	12.37:g.109605787G>A		NA	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	37	CCDS31898.1																																																																																			ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403077.1		+	ENST00000338432.7	Silent	SNP	12 : 109605787 - 109605787 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	345	60
TMEM101	84336	broad.mit.edu	37	17	42090467	42090467	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42090467G>A	ENST00000589334.1	-	4	690	c.375C>T	c.(373-375)agC>agT	p.S125S	TMEM101_ENST00000206380.3_Silent_p.S125S|TMEM101_ENST00000542039.1_Silent_p.S67S|TMEM101_ENST00000587529.1_Silent_p.S125S			Q96IK0	TM101_HUMAN	transmembrane protein 101	125					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CCCCAGCACCGCTGGCCAACA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	31	34			NA	NA	17		NA											NA				42090467		2203	4300	6503	SO:0001819	synonymous_variant			AK172826	CCDS11474.1	17q21.31	2005-12-16					84336	84336			28653	protein-coding gene	gene with protein product					NA	12761501	Standard	NM_032376	NM_032376	NA	Approved	MGC4251, FLJ23987	uc002ieu.3	Q96IK0		ENST00000589334.1:c.375C>T	17.37:g.42090467G>A		NA	B2R9N6	37	CCDS11474.1																																																																																			TMEM101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457665.1		-	ENST00000589334.1	Silent	SNP	17 : 42090467 - 42090467 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	241	47
NTN3	4917	broad.mit.edu	37	16	2522417	2522417	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2522417G>A	ENST00000293973.1	+	1	918	c.715G>A	c.(715-717)Gtc>Atc	p.V239I		NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	239	Laminin N-terminal.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						CATGGAGGCCGTCGTCCCTTA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	45	46			NA	NA	16		NA											NA				2522417		2197	4297	6494	SO:0001583	missense			U86759	CCDS10469.1	16p13.3	2013-03-01	2008-10-29	2008-10-29	ENSG00000162068	ENSG00000162068	4917	4917		Netrins	8030	protein-coding gene	gene with protein product	Netrin-3	602349	netrin 2 (chicken)-like, netrin 2-like (chicken)	NTN2L	NA	9143507, 10366627	Standard	NM_006181	NM_006181	NA	Approved		uc002cqj.3	O00634	OTTHUMG00000128867	ENST00000293973.1:c.715G>A	16.37:g.2522417G>A	ENSP00000293973:p.Val239Ile	NA		37	CCDS10469.1	.	.	.	.	.	.	.	.	.	.	g	1.169	-0.641649	0.03531	.	.	ENSG00000162068	ENST00000293973	T	0.75154	-0.91	3.94	-1.18	0.09617	Laminin, N-terminal (3);	1.578620	0.03511	N	0.219615	T	0.56645	0.1999	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33929	-0.9849	10	0.37606	T	0.19	.	5.5086	0.16868	0.4158:0.2571:0.3271:0.0	.	239	O00634	NET3_HUMAN	I	239	ENSP00000293973:V239I	ENSP00000293973:V239I	V	+	1	0	NTN3	2462418	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.177000	0.03096	-0.993000	0.03467	-4.718000	0.00003	GTC	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250812.1		+	ENST00000293973.1	Missense_Mutation	SNP	16 : 2522417 - 2522417 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	443	87
COL5A1	1289	broad.mit.edu	37	9	137620520	137620520	+	Missense_Mutation	SNP	C	C	T	rs148548209		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137620520C>T	ENST00000371817.3	+	6	1205	c.791C>T	c.(790-792)aCg>aTg	p.T264M		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	264	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTTCAGTACACGGAAGGAGAC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	116	121	120		791	3.9	1	9	dbSNP_134	120	0,8600		0,0,4300	no	missense	COL5A1	NM_000093.3	81	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	possibly-damaging	264/1839	137620520	1,13005	2203	4300	6503	SO:0001583	missense			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635	1289	1289		Collagens	2209	protein-coding gene	gene with protein product	alpha 1 type V collagen	120215			NA	1572660	Standard	NM_000093	NM_001278074	NA	Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.791C>T	9.37:g.137620520C>T	ENSP00000360882:p.Thr264Met	NA	Q15094|Q5SUX4	37	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.403179	0.42613	2.27E-4	0.0	ENSG00000130635	ENST00000371817	D	0.89875	-2.58	3.93	3.93	0.45458	.	0.890707	0.09636	U	0.775651	D	0.83166	0.5195	N	0.22421	0.69	0.80722	D	1	P	0.41265	0.744	B	0.36766	0.232	T	0.81127	-0.1074	10	0.59425	D	0.04	.	15.9158	0.79517	0.0:1.0:0.0:0.0	.	264	P20908	CO5A1_HUMAN	M	264	ENSP00000360882:T264M	ENSP00000360882:T264M	T	+	2	0	COL5A1	136760341	0.990000	0.36364	0.994000	0.49952	0.316000	0.28119	6.107000	0.71517	1.724000	0.51502	0.462000	0.41574	ACG	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054954.2		+	ENST00000371817.3	Missense_Mutation	SNP	9 : 137620520 - 137620520 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1137	174
EPHB4	2050	broad.mit.edu	37	7	100420110	100420110	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100420110G>A	ENST00000358173.3	-	4	1059	c.591C>T	c.(589-591)tgC>tgT	p.C197C	EPHB4_ENST00000360620.3_Silent_p.C197C|EPHB4_ENST00000477446.1_5'UTR	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	197	Cys-rich.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TCAGCTGGGCGCACTTTTTGT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(200;2113 3072 25865 52728)							NA				0													58	59	58			NA	NA	7		NA											NA				100420110		2203	4300	6503	SO:0001819	synonymous_variant			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411	2050	2050		EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3395	protein-coding gene	gene with protein product		600011	EphB4	HTK	NA	8188704	Standard	NM_004444	NM_004444	NA	Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.591C>T	7.37:g.100420110G>A		NA	Q9BTA5|Q9BXP0	37	CCDS5706.1																																																																																			EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347222.1		-	ENST00000358173.3	Silent	SNP	7 : 100420110 - 100420110 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	167	32
ATP1A4	480	broad.mit.edu	37	1	160156079	160156079	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160156079C>T	ENST00000368081.4	+	21	3454	c.2983C>T	c.(2983-2985)Ctc>Ttc	p.L995F	ATP1A4_ENST00000470705.1_Missense_Mutation_p.L131F	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	995				ITWWLCAIPYSILIFVYDEIRKLLIRQ -> WSFALTAQAG VKWRILGLLQPLPPRFK (in Ref. 6; BAC05228).	ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AACCTGGTGGCTCTGTGCCAT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													269	262	265			NA	NA	1		NA											NA				160156079		2203	4300	6503	SO:0001583	missense			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681	480	480		ATPases / P-type	14073	protein-coding gene	gene with protein product	sodium/potassium-transporting ATPase subunit alpha-4, sodium pump subunit alpha-4, sodium-potassium ATPase catalytic subunit alpha-4	607321	ATPase, Na+/K+ transporting, alpha polypeptide-like 2	ATP1AL2	NA	1981991, 3035563	Standard	NM_144699	NM_144699	NA	Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.2983C>T	1.37:g.160156079C>T	ENSP00000357060:p.Leu995Phe	NA	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	37	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	c	0.888	-0.726471	0.03158	.	.	ENSG00000132681	ENST00000368081;ENST00000470705	D;D	0.96168	-3.93;-3.93	4.95	-9.89	0.00464	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.279307	0.34932	N	0.003576	T	0.66005	0.2746	N	0.10707	0.03	0.21762	N	0.999552	B	0.02656	0.0	B	0.15052	0.012	T	0.70432	-0.4873	10	0.02654	T	1	.	10.7308	0.46096	0.0:0.1403:0.2396:0.6201	.	995	Q13733	AT1A4_HUMAN	F	995;131	ENSP00000357060:L995F;ENSP00000433094:L131F	ENSP00000357060:L995F	L	+	1	0	ATP1A4	158422703	0.066000	0.20996	0.413000	0.26509	0.731000	0.41821	-0.802000	0.04545	-1.839000	0.01186	-0.494000	0.04653	CTC	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077415.1		+	ENST00000368081.4	Missense_Mutation	SNP	1 : 160156079 - 160156079 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2153	334
RAPGEF4	11069	broad.mit.edu	37	2	173891399	173891399	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173891399T>C	ENST00000397081.3	+	24	2496	c.2353T>C	c.(2353-2355)Tgg>Cgg	p.W785R	RAPGEF4_ENST00000409036.1_Missense_Mutation_p.W785R|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.W784R|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.W641R|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.W565R|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.W632R|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.W632R|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.W614R	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	785	Ras-GEF.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			AATTTATGATTGGGAACTCTT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	108	112			NA	NA	2		NA											NA				173891399		1927	4151	6078	SO:0001583	missense			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428	11069	11069			16626	protein-coding gene	gene with protein product	cAMP-regulated guanine nucleotide exchange factor II,  exchange protein directly activated by cAMP 2	606058	RAP guanine-nucleotide-exchange factor (GEF) 4		NA	10777494, 9856955	Standard	NM_007023	NM_007023	NA	Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.2353T>C	2.37:g.173891399T>C	ENSP00000380271:p.Trp785Arg	NA	B2R7R3|B7Z912|O95636|Q8IXK6|Q8TAA4	37	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.216318	0.79352	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000535187;ENST00000397085	T;T;T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.42	5.42	0.78866	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.60856	0.2301	M	0.87456	2.885	0.80722	D	1	D;D	0.58268	0.982;0.97	P;D	0.68765	0.799;0.96	T	0.68580	-0.5371	10	0.87932	D	0	.	15.7539	0.78009	0.0:0.0:0.0:1.0	.	641;785	Q8WZA2-3;Q8WZA2	.;RPGF4_HUMAN	R	784;785;785;641;614;632;632;565;16	ENSP00000264111:W784R;ENSP00000380271:W785R;ENSP00000387104:W785R;ENSP00000380276:W641R;ENSP00000440135:W614R;ENSP00000440250:W632R;ENSP00000437384:W632R;ENSP00000438011:W565R;ENSP00000380274:W16R	ENSP00000264111:W784R	W	+	1	0	RAPGEF4	173599645	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	7.655000	0.83696	2.189000	0.69895	0.533000	0.62120	TGG	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257864.2		+	ENST00000397081.3	Missense_Mutation	SNP	2 : 173891399 - 173891399 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	547	106
PSMC4	5704	broad.mit.edu	37	19	40486618	40486618	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40486618T>C	ENST00000157812.2	+	10	1335	c.1137T>C	c.(1135-1137)tgT>tgC	p.C379C	PSMC4_ENST00000455878.2_Silent_p.C348C	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	379					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACTCCATCTGTCAGGAGGTAA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(105;1478 1543 4034 6132 38638)							NA				0													140	135	137			NA	NA	19		NA											NA				40486618		2203	4300	6503	SO:0001819	synonymous_variant			U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275	5704	5704		Proteasome (prosome, macropain) subunits, ATPases / AAA-type	9551	protein-coding gene	gene with protein product	protease 26S subunit 6, Tat-binding protein 7, MB67 interacting protein	602707		MIP224	NA	9473509, 8603043	Standard	NM_006503	NM_006503	NA	Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.1137T>C	19.37:g.40486618T>C		NA	Q96FV5|Q9UBM3|Q9UEX3	37	CCDS12547.1																																																																																			PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462485.1		+	ENST00000157812.2	Silent	SNP	19 : 40486618 - 40486618 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	613	86
BLVRA	644	broad.mit.edu	37	7	43846790	43846790	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43846790G>A	ENST00000402924.1	+	9	1010	c.847G>A	c.(847-849)Ggg>Agg	p.G283R	BLVRA_ENST00000265523.4_Missense_Mutation_p.G283R	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	283					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	GCACTGCCTGGGGCTTGCAGA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	67	67			NA	NA	7		NA											NA				43846790		2203	4300	6503	SO:0001583	missense			BC008456	CCDS5472.1	7p13	2012-10-02			ENSG00000106605	ENSG00000106605	644	644	1.3.1.24		1062	protein-coding gene	gene with protein product		109750		BLVR	NA		Standard	NM_000712	NM_001253823	NA	Approved		uc003tir.3	P53004	OTTHUMG00000128953	ENST00000402924.1:c.847G>A	7.37:g.43846790G>A	ENSP00000385757:p.Gly283Arg	NA	A8K747|O95019|Q86UX0|Q96QL4|Q9BRW8	37	CCDS5472.1	.	.	.	.	.	.	.	.	.	.	G	9.324	1.058859	0.19987	.	.	ENSG00000106605	ENST00000265523;ENST00000402924	T;T	0.21191	2.02;2.02	4.38	2.41	0.29592	.	0.489174	0.24757	N	0.035848	T	0.13628	0.0330	N	0.22421	0.69	0.24712	N	0.993192	B	0.19706	0.038	B	0.25140	0.058	T	0.28267	-1.0049	10	0.21540	T	0.41	.	10.8631	0.46837	0.0:0.0:0.6118:0.3882	.	283	P53004	BIEA_HUMAN	R	283	ENSP00000265523:G283R;ENSP00000385757:G283R	ENSP00000265523:G283R	G	+	1	0	BLVRA	43813315	1.000000	0.71417	0.920000	0.36463	0.896000	0.52359	1.267000	0.33050	0.299000	0.22661	0.561000	0.74099	GGG	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339006.1		+	ENST00000402924.1	Missense_Mutation	SNP	7 : 43846790 - 43846790 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	375	78
CXorf40B	541578	broad.mit.edu	37	X	149101878	149101878	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149101878A>C	ENST00000370406.3	-	4	1043	c.215T>G	c.(214-216)cTc>cGc	p.L72R	CXorf40B_ENST00000355203.2_Missense_Mutation_p.L72R|CXorf40B_ENST00000462691.1_Missense_Mutation_p.L72R|CXorf40B_ENST00000370404.1_Missense_Mutation_p.L72R			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	72										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTTTCCTGAGCAAGGCCTG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													230	210	217			NA	NA	X		NA											NA				149101878		2201	4300	6501	SO:0001583	missense			BC009523	CCDS35426.1	Xq28	2012-11-28			ENSG00000197021	ENSG00000197021	541578	541578			17402	protein-coding gene	gene with protein product					NA		Standard	NP_001013867	XM_005274698	NA	Approved		uc004fdy.3	Q96DE9	OTTHUMG00000034327	ENST00000370406.3:c.215T>G	X.37:g.149101878A>C	ENSP00000359434:p.Leu72Arg	NA		37	CCDS35426.1	.	.	.	.	.	.	.	.	.	.	a	15.27	2.784764	0.49997	.	.	ENSG00000197021	ENST00000462691;ENST00000370406;ENST00000355203;ENST00000370404	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	2.94	2.94	0.34122	PUA-like domain (1);	0.148635	0.44483	D	0.000459	T	0.43122	0.1233	M	0.81682	2.555	0.09310	N	0.999995	D	0.69078	0.997	D	0.66351	0.943	T	0.24190	-1.0167	10	0.87932	D	0	-16.5797	9.9496	0.41631	1.0:0.0:0.0:0.0	.	72	Q96DE9	CX04B_HUMAN	R	72	ENSP00000417546:L72R;ENSP00000359434:L72R;ENSP00000347339:L72R;ENSP00000359432:L72R	ENSP00000347339:L72R	L	-	2	0	CXorf40B	148852536	0.382000	0.25148	0.003000	0.11579	0.002000	0.02628	5.177000	0.65032	0.877000	0.35895	0.371000	0.22339	CTC	CXorf40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000082896.2		-	ENST00000370406.3	Missense_Mutation	SNP	X : 149101878 - 149101878 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	939	73
FAT1	2195	broad.mit.edu	37	4	187628088	187628088	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187628088C>T	ENST00000441802.2	-	2	3103	c.2894G>A	c.(2893-2895)aGc>aAc	p.S965N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	965	Cadherin 8.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTCCAGAAGGCTGTATCTCAC	0.473		NA								HNSCC(5;0.00058)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(197;1040 2055 4143 4984 49344)							NA				0													184	175	178			NA	NA	4		NA											NA				187628088		1923	4149	6072	SO:0001583	missense			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857	2195	2195		Cadherins / Cadherin-related	3595	protein-coding gene	gene with protein product	cadherin-related family member 8	600976	FAT tumor suppressor (Drosophila) homolog, FAT tumor suppressor homolog 1 (Drosophila)	FAT	NA	8586420	Standard	NM_005245	XM_005262834	NA	Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.2894G>A	4.37:g.187628088C>T	ENSP00000406229:p.Ser965Asn	NA		37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	9.742	1.165248	0.21538	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.54866	0.55	4.67	3.81	0.43845	Cadherin (4);Cadherin-like (1);	0.041576	0.85682	D	0.000000	T	0.58524	0.2128	M	0.67397	2.05	0.58432	D	0.999997	P	0.41159	0.74	P	0.46339	0.513	T	0.61441	-0.7062	10	0.42905	T	0.14	.	14.7591	0.69593	0.0:0.8416:0.1583:0.0	.	965	Q14517	FAT1_HUMAN	N	965	ENSP00000406229:S965N	ENSP00000260147:S965N	S	-	2	0	FAT1	187865082	1.000000	0.71417	0.919000	0.36401	0.012000	0.07955	4.708000	0.61859	1.285000	0.44548	0.491000	0.48974	AGC	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360209.3		-	ENST00000441802.2	Missense_Mutation	SNP	4 : 187628088 - 187628088 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	908	86
GK2	2712	broad.mit.edu	37	4	80328787	80328787	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:80328787C>T	ENST00000358842.3	-	1	585	c.568G>A	c.(568-570)Gtt>Att	p.V190I		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	190					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CCTCCATTAACTCCTCCTGTC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	105	106			NA	NA	4		NA											NA				80328787		2203	4300	6503	SO:0001583	missense			BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475	2712	2712		Glycerol kinases	4291	protein-coding gene	gene with protein product		600148	glycerol kinase pseudogene 2	GKP2	NA	7987308	Standard	NM_033214	NM_033214	NA	Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.568G>A	4.37:g.80328787C>T	ENSP00000351706:p.Val190Ile	NA	A8K876|Q6PD73|Q86XV8	37	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	C	0.675	-0.800609	0.02841	.	.	ENSG00000196475	ENST00000358842	T	0.57907	0.37	3.76	2.92	0.33932	Carbohydrate kinase, FGGY, N-terminal (1);	0.464515	0.22498	N	0.059269	T	0.36358	0.0964	L	0.38649	1.16	0.09310	N	0.999997	B	0.06786	0.001	B	0.12837	0.008	T	0.12682	-1.0538	10	0.24483	T	0.36	-16.8897	5.7773	0.18287	0.0:0.766:0.0:0.2339	.	190	Q14410	GLPK2_HUMAN	I	190	ENSP00000351706:V190I	ENSP00000351706:V190I	V	-	1	0	GK2	80547811	0.081000	0.21417	0.539000	0.28077	0.083000	0.17756	1.572000	0.36461	1.185000	0.42971	0.585000	0.79938	GTT	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252517.2		-	ENST00000358842.3	Missense_Mutation	SNP	4 : 80328787 - 80328787 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	548	88
DYNC2H1	79659	broad.mit.edu	37	11	103086499	103086499	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103086499A>T	ENST00000375735.2	+	55	8888	c.8744A>T	c.(8743-8745)aAc>aTc	p.N2915I	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.N2915I|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2915	Stalk (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GATGAACTGAACAGAAAAGCT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	83	85			NA	NA	11		NA											NA				103086499		1887	4125	6012	SO:0001583	missense			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240	79659	79659		Cytoplasmic dyneins	2962	protein-coding gene	gene with protein product		603297	dynein, cytoplasmic, heavy polypeptide 2	DNCH2	NA	9763680, 9373155	Standard	XM_370652	NM_001080463	NA	Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.8744A>T	11.37:g.103086499A>T	ENSP00000364887:p.Asn2915Ile	NA	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.069975	0.76301	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.74315	-0.83;-0.83	5.33	5.33	0.75918	Dynein heavy chain, coiled coil stalk (1);	0.090476	0.41194	U	0.000931	T	0.74023	0.3662	L	0.40543	1.245	0.50313	D	0.999868	P;P	0.40875	0.614;0.731	P;B	0.46885	0.53;0.395	T	0.77011	-0.2746	10	0.66056	D	0.02	.	15.327	0.74172	1.0:0.0:0.0:0.0	.	2915;2915	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	I	2915	ENSP00000364887:N2915I;ENSP00000381167:N2915I	ENSP00000364887:N2915I	N	+	2	0	DYNC2H1	102591709	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.313000	0.78978	2.016000	0.59253	0.533000	0.62120	AAC	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387196.1		+	ENST00000375735.2	Missense_Mutation	SNP	11 : 103086499 - 103086499 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	109	21
PCDH15	65217	broad.mit.edu	37	10	55826621	55826621	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55826621C>A	ENST00000373965.2	-	19	2531	c.2137G>T	c.(2137-2139)Gtg>Ttg	p.V713L	PCDH15_ENST00000395432.2_Missense_Mutation_p.V669L|PCDH15_ENST00000409834.1_Missense_Mutation_p.V317L|PCDH15_ENST00000395430.1_Missense_Mutation_p.V706L|PCDH15_ENST00000414778.1_Missense_Mutation_p.V711L|PCDH15_ENST00000361849.3_Missense_Mutation_p.V706L|PCDH15_ENST00000373955.1_Missense_Mutation_p.V706L|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.V684L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.V706L|PCDH15_ENST00000395445.1_Missense_Mutation_p.V713L|PCDH15_ENST00000395433.1_Missense_Mutation_p.V684L|PCDH15_ENST00000395438.1_Missense_Mutation_p.V706L|PCDH15_ENST00000437009.1_Missense_Mutation_p.V635L	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	706	Cadherin 6.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCTGTCACCACTATGTTTACT	0.383		NA								HNSCC(58;0.16)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	87	89			NA	NA	10		NA											NA				55826621		2203	4300	6503	SO:0001583	missense			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275	65217	65217		Cadherins / Cadherin-related	14674	protein-coding gene	gene with protein product	cadherin-related family member 15	605514	deafness, autosomal recessive 23, protocadherin 15	USH1F, DFNB23	NA	11398101, 14570705	Standard	NM_033056	NM_033056	NA	Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.2137G>T	10.37:g.55826621C>A	ENSP00000363076:p.Val713Leu	NA	A6NL19|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	37		.	.	.	.	.	.	.	.	.	.	C	22.1	4.238812	0.79800	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T	0.60424	0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.19;0.72	5.85	4.94	0.65067	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.65575	0.2704	L	0.31526	0.94	0.42527	D	0.993024	D;P;D;P;D;D;D;P;D;P;P;P;D;P;D	0.65815	0.995;0.939;0.974;0.743;0.992;0.988;0.995;0.884;0.97;0.939;0.949;0.884;0.958;0.942;0.988	D;P;P;P;P;P;D;P;P;P;P;P;P;P;D	0.75484	0.986;0.81;0.81;0.51;0.855;0.9;0.986;0.78;0.868;0.826;0.719;0.78;0.607;0.816;0.932	T	0.67522	-0.5649	9	0.46703	T	0.11	.	15.3458	0.74337	0.1409:0.8591:0.0:0.0	.	684;706;706;711;635;669;706;706;713;713;706;711;706;684;706	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	L	713;711;706;706;317;713;669;706;684;684;706;706;711;635;706	ENSP00000363076:V713L;ENSP00000410304:V711L;ENSP00000378826:V706L;ENSP00000386693:V317L;ENSP00000378832:V713L;ENSP00000378820:V669L;ENSP00000354950:V706L;ENSP00000378821:V684L;ENSP00000363068:V684L;ENSP00000322604:V706L;ENSP00000378818:V706L;ENSP00000412628:V635L;ENSP00000363066:V706L	ENSP00000322604:V706L	V	-	1	0	PCDH15	55496627	0.997000	0.39634	0.736000	0.30914	0.971000	0.66376	3.673000	0.54591	1.465000	0.48006	0.655000	0.94253	GTG	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000291336.1		-	ENST00000373965.2	Missense_Mutation	SNP	10 : 55826621 - 55826621 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	403	70
SLC9A3	6550	broad.mit.edu	37	5	485298	485298	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:485298C>T	ENST00000264938.3	-	4	733	c.724G>A	c.(724-726)Gtg>Atg	p.V242M	SLC9A3_ENST00000514375.1_Missense_Mutation_p.V242M	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	242						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			ACGCCAGTCACGTTGTCACCT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													198	159	173			NA	NA	5		NA											NA				485298		2202	4300	6502	SO:0001583	missense				CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230	6550	6550		Solute carriers	11073	protein-coding gene	gene with protein product		182307	solute carrier family 9 (sodium/hydrogen exchanger), isoform 3, solute carrier family 9 (sodium/hydrogen exchanger), member 3	NHE3	NA	8096830	Standard	NM_004174	NM_004174	NA	Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.724G>A	5.37:g.485298C>T	ENSP00000264938:p.Val242Met	NA	Q3MIW3	37	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057595	0.36277	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.15487	2.42;2.42	4.15	4.15	0.48705	Cation/H+ exchanger (1);	0.277476	0.34750	N	0.003714	T	0.34077	0.0885	M	0.64170	1.965	0.33732	D	0.618384	D;D	0.69078	0.996;0.997	D;D	0.64042	0.921;0.911	T	0.51044	-0.8755	10	0.87932	D	0	.	11.1548	0.48480	0.0:0.9076:0.0:0.0924	.	242;242	E9PF67;P48764	.;SL9A3_HUMAN	M	242	ENSP00000264938:V242M;ENSP00000422983:V242M	ENSP00000264938:V242M	V	-	1	0	SLC9A3	538298	0.948000	0.32251	0.858000	0.33744	0.017000	0.09413	1.942000	0.40243	2.032000	0.59987	0.561000	0.74099	GTG	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206677.2		-	ENST00000264938.3	Missense_Mutation	SNP	5 : 485298 - 485298 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	302	10
TRPC5	7224	broad.mit.edu	37	X	111097109	111097109	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:111097109T>C	ENST00000262839.2	-	4	2044	c.1126A>G	c.(1126-1128)Acc>Gcc	p.T376A		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	376					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AAGAGGAAGGTCAAATAGGAT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	111	117			NA	NA	X		NA											NA				111097109		2203	4300	6503	SO:0001583	missense			AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315	7224	7224		Voltage-gated ion channels / Transient receptor potential cation channels	12337	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 159	300334			NA	10493832, 16382100	Standard	NM_012471	NM_012471	NA	Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1126A>G	X.37:g.111097109T>C	ENSP00000262839:p.Thr376Ala	NA	B2RP53|O75233|Q5JXY8|Q9Y514	37	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.184230	0.57800	.	.	ENSG00000072315	ENST00000262839	T	0.56611	0.45	4.95	4.95	0.65309	.	0.045076	0.85682	D	0.000000	T	0.51753	0.1693	M	0.66506	2.035	0.80722	D	1	B;B	0.30281	0.157;0.275	B;B	0.29176	0.059;0.099	T	0.55049	-0.8201	10	0.49607	T	0.09	-2.7783	13.9562	0.64150	0.0:0.0:0.0:1.0	.	377;376	Q59G51;Q9UL62	.;TRPC5_HUMAN	A	376	ENSP00000262839:T376A	ENSP00000262839:T376A	T	-	1	0	TRPC5	110983765	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.825000	0.86693	1.939000	0.56221	0.486000	0.48141	ACC	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057945.1		-	ENST00000262839.2	Missense_Mutation	SNP	X : 111097109 - 111097109 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	463	22
ALOX12B	242	broad.mit.edu	37	17	7984225	7984225	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7984225C>T	ENST00000319144.4	-	4	764	c.504G>A	c.(502-504)agG>agA	p.R168R	AC129492.6_ENST00000399413.3_3'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	168	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GGTTGCGATGCCTCCGCACCG	0.652		NA								Multiple Myeloma(8;0.094)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	72	72			NA	NA	17		NA											NA				7984225		2203	4300	6503	SO:0001819	synonymous_variant			AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	242	242	1.13.11.-	Arachidonate lipoxygenases	430	protein-coding gene	gene with protein product		603741			NA	9618483	Standard		NM_001139	NA	Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.504G>A	17.37:g.7984225C>T		NA		37	CCDS11129.1																																																																																			ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226984.3		-	ENST00000319144.4	Silent	SNP	17 : 7984225 - 7984225 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	774	40
CDIPT	10423	broad.mit.edu	37	16	29874153	29874153	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29874153A>C	ENST00000566113.1	-	1	372	c.26T>G	c.(25-27)tTc>tGc	p.F9C	CDIPT_ENST00000570016.1_Missense_Mutation_p.F9C|CDIPT_ENST00000569956.1_Missense_Mutation_p.F9C|CDIPT_ENST00000563415.1_Missense_Mutation_p.F9C|CDIPT_ENST00000219789.6_Missense_Mutation_p.F9C			O14735	CDIPT_HUMAN	CDP-diacylglycerol--inositol 3-phosphatidyltransferase	9						endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity|phosphatidylinositol transporter activity			endometrium(1)|lung(3)	4						GTTGGGCACGAACAGGAAGAT	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	103	102			NA	NA	16		NA											NA				29874153		2197	4300	6497	SO:0001583	missense			AF014807	CCDS10657.1, CCDS67002.1	16p11.2	2012-11-19	2010-04-29		ENSG00000103502	ENSG00000103502	10423	10423	2.7.8.11		1769	protein-coding gene	gene with protein product	phosphatidylinositol synthase	605893	CDP-diacylglycerol--inositol 3-phosphatidyltransferase (phosphatidylinositol synthase)		NA	9407135	Standard	NM_006319	NM_006319	NA	Approved	PIS1, PIS	uc002dum.3	O14735	OTTHUMG00000177144	ENST00000566113.1:c.26T>G	16.37:g.29874153A>C	ENSP00000457340:p.Phe9Cys	NA	Q6FGU1|Q6ZN70	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.95|17.95	3.512933|3.512933	0.64522|0.64522	.|.	.|.	ENSG00000103502|ENSG00000103502	ENST00000219789|ENST00000403894	T|.	0.48201|.	0.82|.	5.24|5.24	4.13|4.13	0.48395|0.48395	.|.	0.049082|.	0.85682|.	N|.	0.000000|.	T|T	0.75079|0.75079	0.3801|0.3801	M|M	0.85099|0.85099	2.735|2.735	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.997|.	T|T	0.75513|0.75513	-0.3291|-0.3291	10|6	0.87932|0.46703	D|T	0|0.11	-14.366|-14.366	10.7309|10.7309	0.46096|0.46096	0.8398:0.1602:0.0:0.0|0.8398:0.1602:0.0:0.0	.|.	9;9|.	B4DUV0;O14735|.	.;CDIPT_HUMAN|.	C|A	9|31	ENSP00000219789:F9C|.	ENSP00000219789:F9C|ENSP00000386065:S31A	F|S	-|-	2|1	0|0	CDIPT|CDIPT	29781654|29781654	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.554000|0.554000	0.35429|0.35429	5.039000|5.039000	0.64185|0.64185	0.914000|0.914000	0.36822|0.36822	-0.466000|-0.466000	0.05196|0.05196	TTC|TCG	CDIPT-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000435591.1		-	ENST00000566113.1	Missense_Mutation	SNP	16 : 29874153 - 29874153 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1102	189
LRRC8A	56262	broad.mit.edu	37	9	131669896	131669896	+	Silent	SNP	G	G	A	rs138562691		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131669896G>A	ENST00000259324.5	+	3	976	c.453G>A	c.(451-453)tcG>tcA	p.S151S	LRRC8A_ENST00000372599.3_Silent_p.S151S|LRRC8A_ENST00000372600.4_Silent_p.S151S	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	151					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						GCACCAGCTCGAAGCTGGAGC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,,	1,4405	2.1+/-5.4	0,1,2202	66	65	65		453,453,453	-1.9	1	9	dbSNP_134	65	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	LRRC8A	NM_001127244.1,NM_001127245.1,NM_019594.3	,,	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	,,	151/811,151/811,151/811	131669896	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802	56262	56262			19027	protein-coding gene	gene with protein product		608360	leucine rich repeat containing 8	LRRC8	NA		Standard	NM_019594	NM_001127244	NA	Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.453G>A	9.37:g.131669896G>A		NA	Q6UXM2|Q8NCI0|Q9P2B1	37	CCDS35155.1																																																																																			LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054516.2		+	ENST00000259324.5	Silent	SNP	9 : 131669896 - 131669896 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	41
SHROOM3	57619	broad.mit.edu	37	4	77675851	77675851	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77675851C>T	ENST00000296043.6	+	7	5168	c.4215C>T	c.(4213-4215)ggC>ggT	p.G1405G		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1405					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCTGTGAGGGCGATGGCCCAG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	42	45			NA	NA	4		NA											NA				77675851		2203	4300	6503	SO:0001819	synonymous_variant			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771	57619	57619			30422	protein-coding gene	gene with protein product		604570			NA	10589677, 16615870	Standard	NM_020859	NM_020859	NA	Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.4215C>T	4.37:g.77675851C>T		NA	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	37	CCDS3579.2																																																																																			SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252408.2		+	ENST00000296043.6	Silent	SNP	4 : 77675851 - 77675851 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	231	37
KIF4B	285643	broad.mit.edu	37	5	154395477	154395477	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154395477G>A	ENST00000435029.4	+	1	2218	c.2058G>A	c.(2056-2058)ctG>ctA	p.L686L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	686	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AATATGAGCTGCTCAAACTTG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	122	121			NA	NA	5		NA											NA				154395477		2203	4300	6503	SO:0001819	synonymous_variant			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650	285643	285643		Kinesins	6322	protein-coding gene	gene with protein product		609184			NA		Standard		NM_001099293	NA	Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2058G>A	5.37:g.154395477G>A		NA		37	CCDS47324.1																																																																																			KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377478.1		+	ENST00000435029.4	Silent	SNP	5 : 154395477 - 154395477 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	691	144
DSE	29940	broad.mit.edu	37	6	116720703	116720703	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116720703G>A	ENST00000331677.3	+	3	734	c.290G>A	c.(289-291)cGc>cAc	p.R97H	DSE_ENST00000540275.1_3'UTR|DSE_ENST00000359564.2_Missense_Mutation_p.R97H|DSE_ENST00000537543.1_Missense_Mutation_p.R116H|DSE_ENST00000452085.3_Missense_Mutation_p.R97H			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	97					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TACAGTGCCCGCTGGAATGAA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	42	41			NA	NA	6		NA											NA				116720703		2203	4300	6503	SO:0001583	missense			AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	29940	29940	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	squamous cell carcinoma antigen recognized by T cells 2	SART2	NA	11920522, 16505484	Standard	NM_013352	NM_001080976	NA	Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.290G>A	6.37:g.116720703G>A	ENSP00000332151:p.Arg97His	NA	Q5R3K6	37	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678193	0.88542	.	.	ENSG00000111817	ENST00000430252;ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.47728	0.1461	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.965	T	0.42464	-0.9450	10	0.72032	D	0.01	-16.5762	19.4929	0.95059	0.0:0.0:1.0:0.0	.	116;97	B7Z765;Q9UL01	.;DSE_HUMAN	H	97;97;116;97;97	ENSP00000397597:R97H;ENSP00000404049:R97H;ENSP00000441152:R116H;ENSP00000332151:R97H;ENSP00000352567:R97H	ENSP00000332151:R97H	R	+	2	0	DSE	116827396	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.569000	0.73992	2.835000	0.97688	0.650000	0.86243	CGC	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041940.2		+	ENST00000331677.3	Missense_Mutation	SNP	6 : 116720703 - 116720703 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	44
CAMK1	8536	broad.mit.edu	37	3	9807492	9807492	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9807492G>T	ENST00000256460.3	-	3	343	c.166C>A	c.(166-168)Ctg>Atg	p.L56M	OGG1_ENST00000449570.2_Splice_Site|OGG1_ENST00000302008.8_Splice_Site|OGG1_ENST00000383826.5_Splice_Site|OGG1_ENST00000349503.5_Splice_Site|OGG1_ENST00000302036.7_Splice_Site	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	56	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		TTGCCCTCCAGGGCCTCCTTG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	69	71			NA	NA	3		NA											NA				9807492		2203	4300	6503	SO:0001583	missense			L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072	8536	8536			1459	protein-coding gene	gene with protein product		604998			NA	7641687	Standard	NM_003656	NM_003656	NA	Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.166C>A	3.37:g.9807492G>T	ENSP00000256460:p.Leu56Met	NA	Q3KPF6	37	CCDS2582.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.86|17.86	3.492059|3.492059	0.64074|0.64074	.|.	.|.	ENSG00000114026|ENSG00000134072	ENST00000302036;ENST00000349503;ENST00000302008;ENST00000383826;ENST00000352937|ENST00000256460	.|T	.|0.65549	.|-0.16	4.87|4.87	3.02|3.02	0.34903|0.34903	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.64402	.|D	.|0.000002	.|T	.|0.70193	.|0.3196	L|L	0.49350|0.49350	1.555|1.555	0.80722|0.80722	D|D	1|1	.|D	.|0.64830	.|0.994	.|D	.|0.69479	.|0.964	.|T	.|0.68830	.|-0.5305	.|10	.|0.39692	.|T	.|0.17	.|-9.6405	11.8014|11.8014	0.52128|0.52128	0.1533:0.0:0.8467:0.0|0.1533:0.0:0.8467:0.0	.|.	.|56	.|Q14012	.|KCC1A_HUMAN	.|M	-1|56	.|ENSP00000256460:L56M	.|ENSP00000256460:L56M	.|L	+|-	.|1	.|2	OGG1|CAMK1	9782492|9782492	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.123000|3.123000	0.50453|0.50453	1.170000|1.170000	0.42753|0.42753	0.455000|0.455000	0.32223|0.32223	.|CTG	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250206.1		-	ENST00000256460.3	Missense_Mutation	SNP	3 : 9807492 - 9807492 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	352	37
THEMIS2	9473	broad.mit.edu	37	1	28206557	28206557	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28206557T>C	ENST00000373921.3	+	3	642	c.638T>C	c.(637-639)aTc>aCc	p.I213T	THEMIS2_ENST00000328928.7_Missense_Mutation_p.I213T|THEMIS2_ENST00000373925.1_Missense_Mutation_p.I213T|THEMIS2_ENST00000373927.3_Intron	NM_001105556.1	NP_001099026.1			thymocyte selection associated family member 2	NA											NA						ATCCAAGCCATCATGCACAGT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	30	32			NA	NA	1		NA											NA				28206557		2203	4300	6503	SO:0001583	missense			AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775	9473	9473			16839	protein-coding gene	gene with protein product	induced by contact to basement membrane 1		chromosome 1 open reading frame 38	C1orf38	NA	16219472	Standard	NM_004848	XM_005246041	NA	Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.638T>C	1.37:g.28206557T>C	ENSP00000363031:p.Ile213Thr	NA		37	CCDS41290.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.10|17.10	3.302632|3.302632	0.60195|0.60195	.|.	.|.	ENSG00000130775|ENSG00000130775	ENST00000373925;ENST00000328928;ENST00000373921|ENST00000456990	T;T|.	0.14640|.	2.49;2.49|.	4.81|4.81	4.81|4.81	0.61882|0.61882	.|.	0.162316|.	0.52532|.	D|.	0.000075|.	T|T	0.65565|0.65565	0.2703|0.2703	M|M	0.64404|0.64404	1.975|1.975	0.39996|0.39996	D|D	0.975107|0.975107	D;P;P|.	0.89917|.	1.0;0.856;0.865|.	D;P;P|.	0.87578|.	0.998;0.657;0.521|.	T|T	0.66571|0.66571	-0.5890|-0.5890	10|5	0.36615|.	T|.	0.2|.	-32.1567|-32.1567	12.6325|12.6325	0.56665|0.56665	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	213;213;213|.	Q5TEJ8-5;Q5TEJ8;Q5TEJ8-2|.	.;THMS2_HUMAN;.|.	T|P	213|106	ENSP00000329862:I213T;ENSP00000363031:I213T|.	ENSP00000329862:I213T|.	I|S	+|+	2|1	0|0	C1orf38|C1orf38	28079144|28079144	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	3.132000|3.132000	0.50523|0.50523	1.930000|1.930000	0.55929|0.55929	0.459000|0.459000	0.35465|0.35465	ATC|TCA	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000011148.1		+	ENST00000373921.3	Missense_Mutation	SNP	1 : 28206557 - 28206557 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	123	6
TAF4	6874	broad.mit.edu	37	20	60585189	60585189	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60585189C>T	ENST00000252996.4	-	4	1673	c.1674G>A	c.(1672-1674)acG>acA	p.T558T	TAF4_ENST00000609045.1_5'UTR	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	NA					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CAAGTGAAGCCGTCTGGGCAG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	71	75			NA	NA	20		NA											NA				60585189		2203	4300	6503	SO:0001819	synonymous_variant			Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699	6874	6874			11537	protein-coding gene	gene with protein product		601796	TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD	TAF4A, TAF2C1, TAF2C	NA	8942982, 9192867	Standard	NM_003185	NM_003185	NA	Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.1674G>A	20.37:g.60585189C>T		NA	A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	37	CCDS33500.1																																																																																			TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079968.2		-	ENST00000252996.4	Silent	SNP	20 : 60585189 - 60585189 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	59
SPTA1	6708	broad.mit.edu	37	1	158653211	158653211	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158653211T>C	ENST00000368147.4	-	3	520	c.340A>G	c.(340-342)Aca>Gca	p.T114A		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	NA					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.T114A(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTTCCCTTGTTTTTTCCAGT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											235	210	218			NA	NA	1		NA											NA				158653211		1858	4108	5966	SO:0001583	missense			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554	6708	6708		EF-hand domain containing	11272	protein-coding gene	gene with protein product	elliptocytosis 2	182860	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		NA		Standard	NM_003126	NM_003126	NA	Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.340A>G	1.37:g.158653211T>C	ENSP00000357129:p.Thr114Ala	NA	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	11.17	1.560385	0.27827	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51325	0.71;0.71	6.17	3.8	0.43715	.	0.857574	0.09455	N	0.799845	T	0.20780	0.0500	L	0.33189	0.99	0.33042	D	0.531638	B	0.16396	0.017	B	0.34452	0.183	T	0.19943	-1.0290	10	0.09084	T	0.74	.	12.4308	0.55573	0.0:0.0:0.265:0.735	.	114	P02549	SPTA1_HUMAN	A	114	ENSP00000357130:T114A;ENSP00000357129:T114A	ENSP00000357129:T114A	T	-	1	0	SPTA1	156919835	1.000000	0.71417	0.010000	0.14722	0.003000	0.03518	4.297000	0.59061	0.518000	0.28383	0.533000	0.62120	ACA	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051851.3		-	ENST00000368147.4	Missense_Mutation	SNP	1 : 158653211 - 158653211 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	446	31
EEF1G	1937	broad.mit.edu	37	11	62327638	62327638	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62327638C>A	ENST00000329251.4	-	9	1188	c.1058G>T	c.(1057-1059)aGg>aTg	p.R353M	EEF1G_ENST00000378019.3_Missense_Mutation_p.R403M|MIR3654_ENST00000496634.2_3'UTR	NM_001404.4	NP_001395.1	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	353	EF-1-gamma C-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGCATTCTTCCTCAGCTTGTC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	47	48			NA	NA	11		NA											NA				62327638		1952	4156	6108	SO:0001583	missense			X63526	CCDS44626.1	11q12.3	2008-02-05			ENSG00000254772	ENSG00000254772	1937	1937			3213	protein-coding gene	gene with protein product		130593			NA	1598220, 1461723	Standard	NM_001404	NM_001404	NA	Approved	EF1G	uc001ntm.1	P26641	OTTHUMG00000167567	ENST00000329251.4:c.1058G>T	11.37:g.62327638C>A	ENSP00000331901:p.Arg353Met	NA	Q6PJ62|Q6PK31|Q96CU2|Q9P196	37	CCDS44626.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461627	0.84425	.	.	ENSG00000254772	ENST00000329251;ENST00000378019;ENST00000424909	T;T	0.29142	1.62;1.58	4.67	4.67	0.58626	Translation elongation factor EF1B, gamma chain, conserved (4);	0.000000	0.85682	D	0.000000	T	0.66616	0.2807	H	0.95645	3.7	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.987;0.993	D;D;D	0.73708	0.981;0.961;0.979	T	0.77890	-0.2419	10	0.87932	D	0	.	15.1667	0.72833	0.0:1.0:0.0:0.0	.	403;122;353	B4DTG2;B4DUP0;P26641	.;.;EF1G_HUMAN	M	353;403;122	ENSP00000331901:R353M;ENSP00000367258:R403M	ENSP00000331901:R353M	R	-	2	0	EEF1G	62084214	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.367000	0.79558	2.456000	0.83038	0.537000	0.68136	AGG	EEF1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395047.1		-	ENST00000329251.4	Missense_Mutation	SNP	11 : 62327638 - 62327638 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	297	54
NRXN2	9379	broad.mit.edu	37	11	64417929	64417929	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64417929C>T	ENST00000377559.3	-	13	3441	c.2980G>A	c.(2980-2982)Gat>Aat	p.D994N	NRXN2_ENST00000377551.1_Missense_Mutation_p.D1034N|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Missense_Mutation_p.D1027N|NRXN2_ENST00000265459.6_Missense_Mutation_p.D1034N	NM_138732.2	NP_620060.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1034	Laminin G-like 5.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCTTTGAGATCGAGGTTTCGG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	137	142			NA	NA	11		NA											NA				64417929		2201	4297	6498	SO:0001583	missense				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076	9379	9379			8009	protein-coding gene	gene with protein product	neurexin II	600566			NA	1621094	Standard	NM_015080	NM_015080	NA	Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377559.3:c.2980G>A	11.37:g.64417929C>T	ENSP00000366782:p.Asp994Asn	NA	A7E2C1|Q9Y2D6	37	CCDS31597.1	.	.	.	.	.	.	.	.	.	.	C	33	5.254449	0.95336	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	4.49	4.49	0.54785	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.43416	U	0.000577	D	0.83096	0.5180	L	0.41906	1.305	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.992;0.997	D	0.84949	0.0870	10	0.87932	D	0	.	15.0551	0.71908	0.0:1.0:0.0:0.0	.	994;1034;780	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	N	1034;994;1034;994;1027	ENSP00000366774:D1034N;ENSP00000366782:D994N;ENSP00000265459:D1034N;ENSP00000386416:D1027N	ENSP00000265459:D1034N	D	-	1	0	NRXN2	64174505	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.884000	0.69729	2.488000	0.83962	0.655000	0.94253	GAT	NRXN2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000141951.1		-	ENST00000377559.3	Missense_Mutation	SNP	11 : 64417929 - 64417929 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	752	21
FRMD3	257019	broad.mit.edu	37	9	85862972	85862972	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:85862972G>A	ENST00000304195.3	-	14	1861	c.1655C>T	c.(1654-1656)tCa>tTa	p.S552L	FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000376434.1_Missense_Mutation_p.S358L|FRMD3_ENST00000328788.1_Missense_Mutation_p.S209L|FRMD3_ENST00000376438.1_Missense_Mutation_p.S552L	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	552						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						ATCAATACCTGACTCCAAAAG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	66	65			NA	NA	9		NA											NA				85862972		1931	4139	6070	SO:0001583	missense			AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159	257019	257019			24125	protein-coding gene	gene with protein product		607619			NA	12601556	Standard	NM_174938	NM_174938	NA	Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.1655C>T	9.37:g.85862972G>A	ENSP00000303508:p.Ser552Leu	NA	A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	37	CCDS43840.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662574	0.88251	.	.	ENSG00000172159	ENST00000376438;ENST00000376434;ENST00000328788;ENST00000304195	D;D;T;D	0.90563	-2.22;-2.69;-0.25;-2.54	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.95233	0.8454	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.991;0.994;0.998	D	0.95210	0.8324	10	0.87932	D	0	.	19.8154	0.96566	0.0:0.0:1.0:0.0	.	552;552;209	A2A2Y4;A2A2Y4-2;A2A2Y4-4	FRMD3_HUMAN;.;.	L	552;358;209;552	ENSP00000365621:S552L;ENSP00000365617:S358L;ENSP00000328615:S209L;ENSP00000303508:S552L	ENSP00000303508:S552L	S	-	2	0	FRMD3	85052792	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.340000	0.97038	2.699000	0.92147	0.655000	0.94253	TCA	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157355.1		-	ENST00000304195.3	Missense_Mutation	SNP	9 : 85862972 - 85862972 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	426	78
WDR86	349136	broad.mit.edu	37	7	151097270	151097270	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151097270C>A	ENST00000469830.2	-	2	262	c.221G>T	c.(220-222)aGc>aTc	p.S74I	WDR86_ENST00000477459.1_5'UTR|WDR86_ENST00000334493.6_Missense_Mutation_p.S74I	NM_001284260.1	NP_001271189.1	Q86TI4	WDR86_HUMAN	WD repeat domain 86	74										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGTCGGCGCTGCATGTGAA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	43	42			NA	NA	7		NA											NA				151097270		2178	4268	6446	SO:0001583	missense			AK125347	CCDS5925.2, CCDS64805.1, CCDS64806.1, CCDS75680.1	7q36.1	2013-01-09			ENSG00000187260	ENSG00000187260	349136	349136		WD repeat domain containing	28020	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_198285	NM_198285	NA	Approved		uc003wkb.2	Q86TI4	OTTHUMG00000150764	ENST00000469830.2:c.221G>T	7.37:g.151097270C>A	ENSP00000419162:p.Ser74Ile	NA	Q3KNT1|Q6ZUS8	37		.	.	.	.	.	.	.	.	.	.	C	22.2	4.262929	0.80358	.	.	ENSG00000187260	ENST00000334493;ENST00000469830	T;T	0.74526	-0.85;-0.85	5.0	5.0	0.66597	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	.	.	.	.	D	0.90940	0.7152	H	0.96943	3.91	0.39221	D	0.963495	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.981	D	0.94693	0.7876	9	0.87932	D	0	-20.8032	16.8851	0.86074	0.0:1.0:0.0:0.0	.	74;74;32	B4DJF1;Q86TI4;D3DX12	.;WDR86_HUMAN;.	I	74	ENSP00000335522:S74I;ENSP00000419162:S74I	ENSP00000335522:S74I	S	-	2	0	WDR86	150728203	0.998000	0.40836	0.993000	0.49108	0.941000	0.58515	4.153000	0.58118	2.311000	0.77944	0.585000	0.79938	AGC	WDR86-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000348550.2		-	ENST00000469830.2	Missense_Mutation	SNP	7 : 151097270 - 151097270 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	131	11
ABCA1	19	broad.mit.edu	37	9	107547688	107547688	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107547688T>C	ENST00000374736.3	-	49	7028	c.6634A>G	c.(6634-6636)Aca>Gca	p.T2212A		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2212					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGGTCAAGTGTTGTCTGAGAA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	97	101			NA	NA	9		NA											NA				107547688		2203	4300	6503	SO:0001583	missense			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029	19	19		ATP binding cassette transporters / subfamily A	29	protein-coding gene	gene with protein product	Tangier disease	600046		ABC1, HDLDT1	NA	8088782, 10431236, 10431237, 10431238	Standard	NM_005502	NM_005502	NA	Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.6634A>G	9.37:g.107547688T>C	ENSP00000363868:p.Thr2212Ala	NA	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	37	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	T	32	5.109080	0.94292	.	.	ENSG00000165029	ENST00000374736	D	0.89270	-2.49	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	D	0.93789	0.8014	M	0.89601	3.045	0.80722	D	1	D	0.56035	0.974	P	0.51701	0.677	D	0.94760	0.7935	10	0.87932	D	0	.	16.806	0.85666	0.0:0.0:0.0:1.0	.	2212	O95477	ABCA1_HUMAN	A	2212	ENSP00000363868:T2212A	ENSP00000363868:T2212A	T	-	1	0	ABCA1	106587509	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.367000	0.80283	0.529000	0.55759	ACA	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053491.1		-	ENST00000374736.3	Missense_Mutation	SNP	9 : 107547688 - 107547688 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	277	38
FBXO48	554251	broad.mit.edu	37	2	68691350	68691350	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68691350C>T	ENST00000377957.3	-	4	866	c.459G>A	c.(457-459)ctG>ctA	p.L153L		NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN	F-box protein 48	NA										endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						CTTATCTTTCCAGTTCTGCTT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													207	205	206			NA	NA	2		NA											NA				68691350		2203	4300	6503	SO:0001819	synonymous_variant			BC089423	CCDS33213.1	2p13.3	2011-03-09			ENSG00000204923	ENSG00000204923	554251	554251		F-boxes /  other	33857	protein-coding gene	gene with protein product					NA		Standard	NM_001024680	XM_005264407	NA	Approved		uc002seo.3	Q5FWF7	OTTHUMG00000152585	ENST00000377957.3:c.459G>A	2.37:g.68691350C>T		NA		37	CCDS33213.1																																																																																			FBXO48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326900.2		-	ENST00000377957.3	Silent	SNP	2 : 68691350 - 68691350 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1180	93
OSGIN1	29948	broad.mit.edu	37	16	83994650	83994650	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:83994650T>G	ENST00000343939.2	+	6	1093	c.710T>G	c.(709-711)gTc>gGc	p.V237G	OSGIN1_ENST00000393306.1_Missense_Mutation_p.V154G|OSGIN1_ENST00000565123.1_Missense_Mutation_p.V154G|OSGIN1_ENST00000361711.3_Missense_Mutation_p.V154G			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	237					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						GACCTGGAGGTCAAGGACTGG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	68	68			NA	NA	16		NA											NA				83994650		2200	4300	6500	SO:0001583	missense			AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961	29948	29948			30093	protein-coding gene	gene with protein product	bone marrow stromal cell-derived growth inhibitor, pregnancy induced growth inhibitor	607975			NA	11459809, 14570898	Standard	NM_013370	NM_182981	NA	Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.710T>G	16.37:g.83994650T>G	ENSP00000343376:p.Val237Gly	NA	Q52M33|Q86UQ1|Q96S88|Q9BZ70	37		.	.	.	.	.	.	.	.	.	.	T	13.76	2.333273	0.41297	.	.	ENSG00000140961	ENST00000343939;ENST00000361711;ENST00000393306	T;T;T	0.21191	2.02;2.02;2.02	4.53	4.53	0.55603	.	0.201058	0.43110	N	0.000609	T	0.19565	0.0470	L	0.40543	1.245	0.54753	D	0.999985	B	0.12630	0.006	B	0.14578	0.011	T	0.03514	-1.1029	10	0.87932	D	0	-14.9239	13.0035	0.58690	0.0:0.0:0.0:1.0	.	237	Q9UJX0	OSGI1_HUMAN	G	237;154;154	ENSP00000343376:V237G;ENSP00000355374:V154G;ENSP00000376983:V154G	ENSP00000343376:V237G	V	+	2	0	OSGIN1	82552151	0.717000	0.27966	1.000000	0.80357	0.622000	0.37654	4.020000	0.57189	1.662000	0.50781	0.402000	0.26972	GTC	OSGIN1-001	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000269081.1		+	ENST00000343939.2	Missense_Mutation	SNP	16 : 83994650 - 83994650 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	364	77
CARTPT	9607	broad.mit.edu	37	5	71015722	71015722	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71015722G>A	ENST00000296777.4	+	2	306	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	CARTPT_ENST00000513096.1_3'UTR	NM_004291.3	NP_004282.1	Q16568	CART_HUMAN	CART prepropeptide	59					activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission	extracellular space				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	Amphetamine(DB00182)	AGCGCTGCAAGAAGTCTTGAA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	130	135			NA	NA	5		NA											NA				71015722		2203	4300	6503	SO:0001583	missense			U16826	CCDS4011.1	5q13.2	2008-02-05			ENSG00000164326	ENSG00000164326	9607	9607			24323	protein-coding gene	gene with protein product	cocaine and amphetamine regulated transcript	602606			NA	9590691, 8647455	Standard	NM_004291	NM_004291	NA	Approved	CART	uc003kbv.2	Q16568	OTTHUMG00000131261	ENST00000296777.4:c.175G>A	5.37:g.71015722G>A	ENSP00000296777:p.Glu59Lys	NA	Q6FG92	37	CCDS4011.1	.	.	.	.	.	.	.	.	.	.	G	32	5.168013	0.94768	.	.	ENSG00000164326	ENST00000296777	T	0.58797	0.31	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.72285	0.3441	L	0.55990	1.75	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.74917	-0.3501	10	0.66056	D	0.02	.	17.1015	0.86651	0.0:0.0:1.0:0.0	.	59	Q16568	CART_HUMAN	K	59	ENSP00000296777:E59K	ENSP00000296777:E59K	E	+	1	0	CARTPT	71051478	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.966000	0.93397	2.340000	0.79590	0.655000	0.94253	GAA	CARTPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254029.2		+	ENST00000296777.4	Missense_Mutation	SNP	5 : 71015722 - 71015722 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	455	77
SLC7A1	6541	broad.mit.edu	37	13	30104741	30104741	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:30104741G>A	ENST00000380752.5	-	5	1024	c.638C>T	c.(637-639)tCg>tTg	p.S213L		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	213					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GTTTTTAACCGATCCTTTCAC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	167	166			NA	NA	13		NA											NA				30104741		2203	4300	6503	SO:0001583	missense			AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514	6541	6541		Solute carriers	11057	protein-coding gene	gene with protein product	ecotropic retroviral receptor, amino acid transporter, cationic 1	104615		ERR, ATRC1	NA	1348489	Standard	NM_003045	NM_003045	NA	Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.638C>T	13.37:g.30104741G>A	ENSP00000370128:p.Ser213Leu	NA	Q5JR50	37	CCDS9333.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905349	0.52333	.	.	ENSG00000139514	ENST00000380752	D	0.90004	-2.6	4.73	2.9	0.33743	Amino acid permease domain (1);	0.334522	0.35646	N	0.003073	D	0.89653	0.6777	L	0.61218	1.895	0.09310	N	0.999999	P	0.48230	0.907	P	0.49276	0.605	D	0.83567	0.0110	10	0.72032	D	0.01	.	14.0371	0.64651	0.0:0.2884:0.7116:0.0	.	213	P30825	CTR1_HUMAN	L	213	ENSP00000370128:S213L	ENSP00000370128:S213L	S	-	2	0	SLC7A1	29002741	1.000000	0.71417	0.037000	0.18230	0.596000	0.36781	4.254000	0.58798	0.651000	0.30788	0.655000	0.94253	TCG	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044337.2		-	ENST00000380752.5	Missense_Mutation	SNP	13 : 30104741 - 30104741 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	771	133
TJP1	7082	broad.mit.edu	37	15	30012008	30012008	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30012008T>C	ENST00000400011.2	-	20	3017				TJP1_ENST00000346128.6_Silent_p.S992S|TJP1_ENST00000356107.6_Silent_p.S992S|TJP1_ENST00000545208.2_Intron			Q07157	ZO1_HUMAN	tight junction protein 1	NA					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GCGACGACAATGATGGTTCTT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(77;681 1843 6309 6570)							NA				0													193	190	191			NA	NA	15		NA											NA				30012008		2036	4182	6218	SO:0001627	intron_variant				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067	7082	7082			11827	protein-coding gene	gene with protein product	zona occludens 1, tight junction protein ZO-1	601009			NA	8825647	Standard	NM_003257	XM_005254616	NA	Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000400011.2:c.2775+553A>G	15.37:g.30012008T>C		NA	B4E3K1|Q2NKP3|Q4ZGJ6	37																																																																																				TJP1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000268241.2		-	ENST00000400011.2	Intron	SNP	15 : 30012008 - 30012008 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	591	114
SCNN1B	6338	broad.mit.edu	37	16	23382619	23382619	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23382619G>A	ENST00000568923.1	+	5	807		c.e5-1		SCNN1B_ENST00000343070.2_Splice_Site|SCNN1B_ENST00000307331.5_Splice_Site|SCNN1B_ENST00000568085.1_Splice_Site			P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	NA					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CCTCCCCACAGGCCTGAAGTT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	49	56			NA	NA	16		NA											NA				23382619		2197	4300	6497	SO:0001630	splice_region_variant			X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447	NA	6338		Ion channels / Sodium channel, nonvoltage-gated, Sodium channels	10600	protein-coding gene	gene with protein product	Liddle syndrome	600760	sodium channel, nonvoltage-gated 1, beta, sodium channel, non-voltage-gated 1, beta		NA		Standard		NM_000336	NA	Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000568923.1:c.800-1G>A	16.37:g.23382619G>A		NA	C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	37		.	.	.	.	.	.	.	.	.	.	G	19.28	3.796929	0.70567	.	.	ENSG00000168447	ENST00000343070;ENST00000307331	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3366	0.87283	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SCNN1B	23290120	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.235000	0.78143	2.327000	0.79052	0.655000	0.94253	.	SCNN1B-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000434813.1	Intron	+	ENST00000568923.1	Splice_Site	SNP	16 : 23382619 - 23382619 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	197	37
SCN4B	6330	broad.mit.edu	37	11	118015933	118015933	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118015933G>A	ENST00000324727.4	-	2	219	c.73C>T	c.(73-75)Ctc>Ttc	p.L25F	SCN4B_ENST00000529878.1_Intron	NM_001142349.1|NM_174934.3	NP_001135821.1|NP_777594.1	Q8IWT1	SCN4B_HUMAN	sodium channel, voltage-gated, type IV, beta subunit	25						voltage-gated sodium channel complex	voltage-gated sodium channel activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)		GTTACGGGGAGCAGGAAGAGG	0.607		NA									OREG0021380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	82	86			NA	NA	11		NA											NA				118015933		2200	4296	6496	SO:0001583	missense			AY149967	CCDS8389.1, CCDS44744.1	11q23.3	2014-09-17	2012-02-28		ENSG00000177098	ENSG00000177098	6330	6330		Sodium channels, Immunoglobulin superfamily / V-set domain containing	10592	protein-coding gene	gene with protein product		608256	sodium channel, voltage-gated, type IV, beta		NA		Standard		NM_174934	NA	Approved	LQT10	uc001pse.3	Q8IWT1	OTTHUMG00000166994	ENST00000324727.4:c.73C>T	11.37:g.118015933G>A	ENSP00000322460:p.Leu25Phe	1485	Q6PIG5	37	CCDS8389.1	.	.	.	.	.	.	.	.	.	.	G	9.236	1.036964	0.19669	.	.	ENSG00000177098	ENST00000324727	D	0.97976	-4.64	5.26	0.672	0.17935	.	0.656184	0.14631	N	0.307802	D	0.92522	0.7625	L	0.35723	1.085	0.23798	N	0.996815	B	0.06786	0.001	B	0.06405	0.002	T	0.81810	-0.0762	10	0.11794	T	0.64	-22.7509	3.3839	0.07264	0.117:0.4645:0.2591:0.1595	.	25	Q8IWT1	SCN4B_HUMAN	F	25	ENSP00000322460:L25F	ENSP00000322460:L25F	L	-	1	0	SCN4B	117521143	0.997000	0.39634	0.956000	0.39512	0.350000	0.29205	0.501000	0.22578	0.592000	0.29728	-0.175000	0.13238	CTC	SCN4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392326.1		-	ENST00000324727.4	Missense_Mutation	SNP	11 : 118015933 - 118015933 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	400	75
TSHZ1	10194	broad.mit.edu	37	18	72999114	72999114	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72999114G>T	ENST00000322038.5	+	2	2201	c.1617G>T	c.(1615-1617)caG>caT	p.Q539H	TSHZ1_ENST00000580243.1_Missense_Mutation_p.Q584H	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	584						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CAGCCTACCAGCTCCCGGGCA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	36	35			NA	NA	18		NA											NA				72999114		2203	4300	6503	SO:0001583	missense			AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981	10194	10194		Teashirt zinc fingers, Homeoboxes / ZF class, Zinc fingers, C2H2-type	10669	protein-coding gene	gene with protein product		614427	serologically defined colon cancer antigen 33, teashirt zinc finger 1, teashirt family zinc finger 1	SDCCAG33	NA	17586487	Standard	NM_005786	NM_005786	NA	Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000322038.5:c.1617G>T	18.37:g.72999114G>T	ENSP00000323584:p.Gln539His	NA	O60534|Q4LE29|Q53EU4	37	CCDS12009.1	.	.	.	.	.	.	.	.	.	.	G	5.717	0.316735	0.10845	.	.	ENSG00000179981	ENST00000322038	T	0.46063	0.88	5.42	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.65238	0.2672	M	0.83483	2.645	0.41441	D	0.987929	D	0.71674	0.998	D	0.79784	0.993	T	0.68383	-0.5423	10	0.87932	D	0	-33.2648	11.2543	0.49045	0.1473:0.0:0.8527:0.0	.	584	Q6ZSZ6	TSH1_HUMAN	H	539	ENSP00000323584:Q539H	ENSP00000323584:Q539H	Q	+	3	2	TSHZ1	71128102	1.000000	0.71417	1.000000	0.80357	0.417000	0.31264	4.607000	0.61133	0.665000	0.31066	-0.291000	0.09656	CAG	TSHZ1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256333.2		+	ENST00000322038.5	Missense_Mutation	SNP	18 : 72999114 - 72999114 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	453	68
PKHD1	5314	broad.mit.edu	37	6	51618011	51618011	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:51618011C>A	ENST00000371117.3	-	57	9213	c.8938G>T	c.(8938-8940)Gaa>Taa	p.E2980*	PKHD1_ENST00000340994.4_Nonsense_Mutation_p.E2980*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2980					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAAAATTCTTCTCGGCTGGAC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	86	85			NA	NA	6		NA											NA				51618011		2203	4300	6503	SO:0001587	stop_gained			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927	5314	5314			9016	protein-coding gene	gene with protein product	tigmin, polyductin, fibrocystin	606702	TIG multiple domains 1	TIGM1	NA	9503014	Standard	NM_138694	NM_138694	NA	Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8938G>T	6.37:g.51618011C>A	ENSP00000360158:p.Glu2980*	NA	Q5VUA2|Q5VUA3|Q5VWV1|Q8TCZ9	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	50	16.920727	0.99875	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	.	.	.	5.97	5.11	0.69529	.	0.389019	0.26855	N	0.022142	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	10.698	0.45909	0.0:0.8405:0.0:0.1595	.	.	.	.	X	2980	.	ENSP00000341097:E2980X	E	-	1	0	PKHD1	51725970	0.060000	0.20803	0.874000	0.34290	0.478000	0.33099	1.984000	0.40658	1.536000	0.49237	0.655000	0.94253	GAA	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040893.1		-	ENST00000371117.3	Nonsense_Mutation	SNP	6 : 51618011 - 51618011 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	477	82
PARVG	64098	broad.mit.edu	37	22	44586501	44586501	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44586501C>T	ENST00000444313.3	+	7	943	c.459C>T	c.(457-459)gaC>gaT	p.D153D	PARVG_ENST00000415224.1_Silent_p.D153D|PARVG_ENST00000422871.1_Silent_p.D153D	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	NA					cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				TCCAGCCCGACCTCTCCCTCC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	78	85			NA	NA	22		NA											NA				44586501		2203	4300	6503	SO:0001819	synonymous_variant			AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964	64098	64098		Parvins	14654	protein-coding gene	gene with protein product		608122			NA	11171322	Standard	NM_022141	NM_022141	NA	Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.459C>T	22.37:g.44586501C>T		NA	Q9BQX5|Q9NSG1	37	CCDS14057.1																																																																																			PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318238.4		+	ENST00000444313.3	Silent	SNP	22 : 44586501 - 44586501 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	456	82
BTBD2	55643	broad.mit.edu	37	19	1986857	1986857	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1986857A>G	ENST00000255608.4	-	8	1404	c.1388T>C	c.(1387-1389)gTc>gCc	p.V463A		NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	463						cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGTAGTTGACGTTGGGCAG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	51	51			NA	NA	19		NA											NA				1986857		2203	4300	6503	SO:0001583	missense			AF355797	CCDS12078.1	19p13.3	2013-10-02			ENSG00000133243	ENSG00000133243	55643	55643		BTB/POZ domain containing	15504	protein-coding gene	gene with protein product		608531			NA	11179693	Standard		XM_005259593	NA	Approved		uc002lup.1	Q9BX70	OTTHUMG00000180017	ENST00000255608.4:c.1388T>C	19.37:g.1986857A>G	ENSP00000255608:p.Val463Ala	NA	O60418|O75248|Q4VBZ1|Q6IAC5|Q7Z5W0|Q96SX8|Q9NPS1|Q9NX81	37	CCDS12078.1	.	.	.	.	.	.	.	.	.	.	A	11.89	1.773697	0.31411	.	.	ENSG00000133243	ENST00000255608	T	0.74632	-0.86	4.7	3.68	0.42216	PHR (1);	0.059770	0.64402	D	0.000003	T	0.67979	0.2951	L	0.52011	1.625	0.58432	D	0.999998	P	0.36222	0.544	B	0.38683	0.279	T	0.65010	-0.6272	10	0.40728	T	0.16	-44.8083	9.631	0.39778	0.9167:0.0:0.0833:0.0	.	463	Q9BX70	BTBD2_HUMAN	A	463	ENSP00000255608:V463A	ENSP00000255608:V463A	V	-	2	0	BTBD2	1937857	1.000000	0.71417	0.161000	0.22692	0.023000	0.10783	7.112000	0.77086	0.920000	0.36970	0.459000	0.35465	GTC	BTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449300.2		-	ENST00000255608.4	Missense_Mutation	SNP	19 : 1986857 - 1986857 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	376	65
ANKHD1	54882	broad.mit.edu	37	5	139876204	139876204	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139876204C>T	ENST00000297183.6	+	15	2469	c.2345C>T	c.(2344-2346)aCt>aTt	p.T782I	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.T782I|ANKHD1_ENST00000360839.2_Missense_Mutation_p.T782I	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1	NA										breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAGAGGAGACTGAAGGCAAG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	93	94			NA	NA	5		NA											NA				139876204		2203	4300	6503	SO:0001583	missense			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503	54882	54882		Ankyrin repeat domain containing	24714	protein-coding gene	gene with protein product		610500			NA	10470851, 11230166, 16098192	Standard	NM_017747	NM_017747	NA	Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000297183.6:c.2345C>T	5.37:g.139876204C>T	ENSP00000297183:p.Thr782Ile	NA		37	CCDS4224.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.788684	0.70337	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000421134;ENST00000532219	T;T;T;T	0.69040	-0.34;-0.37;-0.29;-0.37	5.76	5.76	0.90799	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78317	0.4264	L	0.51422	1.61	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.66351	0.943;0.941;0.941	T	0.77247	-0.2658	10	0.51188	T	0.08	.	19.9607	0.97248	0.0:1.0:0.0:0.0	.	782;782;782	Q8IWZ3-4;Q8IWZ2;Q8IWZ3	.;.;ANKH1_HUMAN	I	782;815;782;782;316;801;782	ENSP00000354085:T782I;ENSP00000297183:T782I;ENSP00000394489:T801I;ENSP00000432016:T782I	ENSP00000432016:T782I	T	+	2	0	ANKHD1-EIF4EBP3;ANKHD1	139856388	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.814000	0.86154	2.713000	0.92767	0.585000	0.79938	ACT	ANKHD1-201	KNOWN	basic|exp_conf|CCDS	protein_coding	NA	protein_coding			+	ENST00000297183.6	Missense_Mutation	SNP	5 : 139876204 - 139876204 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	472	95
KCNC2	3747	broad.mit.edu	37	12	75444592	75444592	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75444592G>A	ENST00000393288.2	-	3	1440	c.1193C>T	c.(1192-1194)aCc>aTc	p.T398I	KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000548513.1_Missense_Mutation_p.T398I|KCNC2_ENST00000540018.1_Missense_Mutation_p.T398I|KCNC2_ENST00000298972.1_Missense_Mutation_p.T398I|KCNC2_ENST00000341669.3_Missense_Mutation_p.T398I|KCNC2_ENST00000549446.1_Missense_Mutation_p.T398I|KCNC2_ENST00000350228.2_Missense_Mutation_p.T398I|KCNC2_ENST00000550433.1_Missense_Mutation_p.T398I			Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	398					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						GTAGATCATGGTAGCAAATAT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	64	64			NA	NA	12		NA											NA				75444592		2203	4300	6503	SO:0001583	missense			AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05					3747	3747		Potassium channels, Voltage-gated ion channels / Potassium channels	6234	protein-coding gene	gene with protein product		176256			NA	8111118, 16382104	Standard	NM_153748	NM_139136	NA	Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000393288.2:c.1193C>T	12.37:g.75444592G>A	ENSP00000376966:p.Thr398Ile	NA	Q4LE77|Q86W09|Q8N1V9|Q96PR0	37	CCDS58257.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258306	0.80246	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	D;D;D;D;D;D;D;D	0.98381	-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9	6.06	6.06	0.98353	Ion transport (1);	0.079838	0.53938	D	0.000052	D	0.98673	0.9555	L	0.55990	1.75	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.993	D;D;D;D;D	0.97110	0.998;1.0;0.99;1.0;0.947	D	0.99846	1.1066	10	0.87932	D	0	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	398;398;398;398;398	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	I	398	ENSP00000448301:T398I;ENSP00000449941:T398I;ENSP00000449253:T398I;ENSP00000340121:T398I;ENSP00000298972:T398I;ENSP00000319877:T398I;ENSP00000438423:T398I;ENSP00000376966:T398I	ENSP00000298972:T398I	T	-	2	0	KCNC2	73730859	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.835000	0.99442	2.880000	0.98712	0.650000	0.86243	ACC	KCNC2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405584.1		-	ENST00000393288.2	Missense_Mutation	SNP	12 : 75444592 - 75444592 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	304	55
SLC43A2	124935	broad.mit.edu	37	17	1479048	1479048	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1479048C>T	ENST00000412517.3	-	10	1404	c.1149G>A	c.(1147-1149)ggG>ggA	p.G383G	SLC43A2_ENST00000301335.5_Silent_p.G520G|SLC43A2_ENST00000382147.4_Silent_p.G524G|SLC43A2_ENST00000571650.1_Silent_p.G524G			Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	520					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		GAAGGAGCAGCCCCACGTTCA	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	34	35			NA	NA	17		NA											NA				1479048		2201	4299	6500	SO:0001819	synonymous_variant			BC027923	CCDS11006.1, CCDS67107.1, CCDS67108.1	17p13.3	2013-07-17	2013-07-17		ENSG00000167703	ENSG00000167703	124935	124935		Solute carriers	23087	protein-coding gene	gene with protein product		610791			NA	23268354	Standard	NM_152346	NM_001284498	NA	Approved	MGC34680	uc002fsv.3	Q8N370	OTTHUMG00000090345	ENST00000412517.3:c.1149G>A	17.37:g.1479048C>T		NA	D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	37																																																																																				SLC43A2-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000438567.1		-	ENST00000412517.3	Silent	SNP	17 : 1479048 - 1479048 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	149	37
DNAH7	56171	broad.mit.edu	37	2	196788367	196788367	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:196788367G>A	ENST00000312428.6	-	23	3877	c.3777C>T	c.(3775-3777)agC>agT	p.S1259S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1259	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAGAGTCATCGCTAATATTTT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	92	94			NA	NA	2		NA											NA				196788367		1910	4143	6053	SO:0001819	synonymous_variant			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997	56171	56171		Axonemal dyneins, EF-hand domain containing	18661	protein-coding gene	gene with protein product		610061	dynein, axonemal, heavy polypeptide 7		NA	9373155, 11877439	Standard	NM_018897	NM_018897	NA	Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.3777C>T	2.37:g.196788367G>A		NA	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	37	CCDS42794.1																																																																																			DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335202.3		-	ENST00000312428.6	Silent	SNP	2 : 196788367 - 196788367 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	374	60
PHLDB3	653583	broad.mit.edu	37	19	43998922	43998922	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43998922C>A	ENST00000292140.5	-	9	1441	c.1081G>T	c.(1081-1083)Gat>Tat	p.D361Y		NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	361										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				GCCACGGCATCCTGGAGCACC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	47	44			NA	NA	19		NA											NA				43998922		2096	4232	6328	SO:0001583	missense				CCDS12621.2	19q13.31	2013-01-10			ENSG00000176531	ENSG00000176531	653583	653583		Pleckstrin homology (PH) domain containing	30499	protein-coding gene	gene with protein product					NA		Standard		NM_198850	NA	Approved	FLJ40193	uc002own.4	Q6NSJ2	OTTHUMG00000150693	ENST00000292140.5:c.1081G>T	19.37:g.43998922C>A	ENSP00000292140:p.Asp361Tyr	NA	Q8N7Z4	37	CCDS12621.2	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646014	0.47258	.	.	ENSG00000176531	ENST00000292140	T	0.52526	0.66	4.6	4.6	0.57074	.	.	.	.	.	T	0.56232	0.1971	L	0.29908	0.895	0.33992	D	0.649202	D;D	0.89917	0.986;1.0	P;D	0.83275	0.579;0.996	T	0.66705	-0.5856	9	0.56958	D	0.05	.	13.3415	0.60547	0.0:1.0:0.0:0.0	.	65;361	B2RXH3;Q6NSJ2	.;PHLB3_HUMAN	Y	361	ENSP00000292140:D361Y	ENSP00000292140:D361Y	D	-	1	0	PHLDB3	48690762	1.000000	0.71417	1.000000	0.80357	0.171000	0.22731	3.744000	0.55112	2.266000	0.75297	0.460000	0.39030	GAT	PHLDB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319643.2		-	ENST00000292140.5	Missense_Mutation	SNP	19 : 43998922 - 43998922 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	111	6
YEATS2	55689	broad.mit.edu	37	3	183476677	183476677	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183476677C>T	ENST00000305135.5	+	13	1775	c.1580C>T	c.(1579-1581)gCt>gTt	p.A527V		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	527					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATCTCCACGGCTTCTCAGGTC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	124	128			NA	NA	3		NA											NA				183476677		1831	4086	5917	SO:0001583	missense			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872	55689	55689			25489	protein-coding gene	gene with protein product		613373			NA	10574462	Standard	NM_018023	NM_018023	NA	Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1580C>T	3.37:g.183476677C>T	ENSP00000306983:p.Ala527Val	NA	A7E2B9|D3DNS9|Q641P6|Q9NW96	37	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999576	0.35320	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.30448	1.53	5.13	3.29	0.37713	.	0.457148	0.22061	N	0.065174	T	0.14700	0.0355	N	0.12182	0.205	0.28126	N	0.930405	B	0.06786	0.001	B	0.04013	0.001	T	0.10359	-1.0633	10	0.33141	T	0.24	-4.1989	5.6175	0.17440	0.0:0.6413:0.1918:0.1669	.	527	Q9ULM3	YETS2_HUMAN	V	527	ENSP00000306983:A527V	ENSP00000306983:A527V	A	+	2	0	YEATS2	184959371	0.739000	0.28196	0.954000	0.39281	0.987000	0.75469	1.212000	0.32394	1.146000	0.42352	0.585000	0.79938	GCT	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346507.2		+	ENST00000305135.5	Missense_Mutation	SNP	3 : 183476677 - 183476677 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	592	86
ALG11	440138	broad.mit.edu	37	13	52598190	52598190	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52598190C>T	ENST00000521508.1	+	3	329	c.324C>T	c.(322-324)aaC>aaT	p.N108N	ALG11_ENST00000523764.1_Intron|ALG11_ENST00000519151.1_3'UTR	NM_001004127.2	NP_001004127.2			ALG11, alpha-1,2-mannosyltransferase	NA										endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		TTAATGTCAACGGTCAACAGA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	104	105			NA	NA	13		NA											NA				52598190		2203	4300	6503	SO:0001819	synonymous_variant			AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	440138	440138	2.4.1.131	Glycosyltransferase group 1 domain containing	32456	protein-coding gene	gene with protein product	GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase	613666	asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase), asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)		NA	20080937	Standard	NM_001004127	NM_001004127	NA	Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959	ENST00000521508.1:c.324C>T	13.37:g.52598190C>T		NA		37	CCDS31977.1																																																																																			ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045050.1		+	ENST00000521508.1	Silent	SNP	13 : 52598190 - 52598190 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	441	79
ZFC3H1	196441	broad.mit.edu	37	12	72024411	72024411	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72024411T>C	ENST00000378743.3	-	18	4051	c.3693A>G	c.(3691-3693)acA>acG	p.T1231T		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1231					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CATTAGTACTTGTCTCTGCAC	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	72	73			NA	NA	12		NA											NA				72024411		1810	4077	5887	SO:0001819	synonymous_variant			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858	196441	196441		Zinc finger, C3H1-type containing	28328	protein-coding gene	gene with protein product			proline/serine-rich coiled-coil 2, coiled-coil domain containing 131	PSRC2, CCDC131	NA	9628581	Standard	NM_144982	NM_144982	NA	Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.3693A>G	12.37:g.72024411T>C		NA	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	37	CCDS41813.1																																																																																			ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404751.1		-	ENST00000378743.3	Silent	SNP	12 : 72024411 - 72024411 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	233	36
NDUFS6	4726	broad.mit.edu	37	5	1802444	1802444	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1802444G>A	ENST00000274137.5	+	2	160	c.142G>A	c.(142-144)Gat>Aat	p.D48N	NDUFS6_ENST00000469176.1_Missense_Mutation_p.D48N	NM_004553.4	NP_004544.1	O75380	NDUS6_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)	48					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	7					NADH(DB00157)	GGTTTATGATGATAAAGACTA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	102	101			NA	NA	5		NA											NA				1802444		2203	4300	6503	SO:0001583	missense			BC038664	CCDS3866.1	5p15.33	2011-07-04	2002-08-29		ENSG00000145494	ENSG00000145494	4726	4726	1.6.99.3, 1.6.5.3	Mitochondrial respiratory chain complex / Complex I	7713	protein-coding gene	gene with protein product	complex I 13kDa subunit A, NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial	603848	NADH dehydrogenase (ubiquinone) Fe-S protein 6 (13kD) (NADH-coenzyme Q reductase)		NA	9763677	Standard	NM_004553	NM_004553	NA	Approved	CI-13kA	uc003jcy.3	O75380	OTTHUMG00000090372	ENST00000274137.5:c.142G>A	5.37:g.1802444G>A	ENSP00000274137:p.Asp48Asn	NA		37	CCDS3866.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080091	0.36662	.	.	ENSG00000145494	ENST00000274137;ENST00000469176	T	0.77098	-1.07	4.32	1.48	0.22813	.	0.417168	0.26855	N	0.022151	T	0.71409	0.3336	M	0.67953	2.075	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.62817	-0.6774	10	0.59425	D	0.04	-2.9912	7.4969	0.27494	0.2902:0.0:0.7098:0.0	.	48	O75380	NDUS6_HUMAN	N	48	ENSP00000274137:D48N	ENSP00000274137:D48N	D	+	1	0	NDUFS6	1855444	0.992000	0.36948	0.003000	0.11579	0.961000	0.63080	4.399000	0.59703	-0.008000	0.14320	0.558000	0.71614	GAT	NDUFS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206744.2		+	ENST00000274137.5	Missense_Mutation	SNP	5 : 1802444 - 1802444 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	61
TTN	7273	broad.mit.edu	37	2	179419371	179419371	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179419371T>C	ENST00000589042.1	-	332	88927	c.88703A>G	c.(88702-88704)cAc>cGc	p.H29568R	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H27000R|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H27927R|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H20695R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H20628R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H20503R|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27927	Ig-like 135.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACAATGTAGTGAGTGATTTT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	109	109			NA	NA	2		NA											NA				179419371		2033	4183	6216	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.88703A>G	2.37:g.179419371T>C	ENSP00000467141:p.His29568Arg	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	T	18.85	3.710933	0.68730	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.66	5.66	0.87406	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64832	0.2634	L	0.37897	1.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.67848	-0.5564	9	0.87932	D	0	.	16.1819	0.81915	0.0:0.0:0.0:1.0	.	20503;20628;20695;27927	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	27000;20503;20695;20628;20500	ENSP00000343764:H27000R;ENSP00000434586:H20503R;ENSP00000340554:H20695R;ENSP00000352154:H20628R	ENSP00000340554:H20695R	H	-	2	0	TTN	179127617	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.040000	0.89188	2.279000	0.76181	0.533000	0.62120	CAC	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179419371 - 179419371 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	423	186
SST	6750	broad.mit.edu	37	3	187387999	187387999	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:187387999C>T	ENST00000287641.3	-	1	188	c.81G>A	c.(79-81)tcG>tcA	p.S27S		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	27					digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Bromocriptine(DB01200)|Cysteamine(DB00847)	GTCTGGGGTCCGAGGGAGCGC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	21	21			NA	NA	3		NA											NA				187387999		2199	4298	6497	SO:0001819	synonymous_variant				CCDS3288.1	3q28	2013-02-28			ENSG00000157005	ENSG00000157005	6750	6750		Endogenous ligands	11329	protein-coding gene	gene with protein product	somatostatin-14, somatostatin-28, prepro-somatostatin	182450			NA	6126875, 6142531	Standard	NM_001048	NM_001048	NA	Approved	SMST	uc003frn.3	P61278	OTTHUMG00000156462	ENST00000287641.3:c.81G>A	3.37:g.187387999C>T		NA	B2R5G3|P01166	37	CCDS3288.1																																																																																			SST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344278.1		-	ENST00000287641.3	Silent	SNP	3 : 187387999 - 187387999 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	62	14
SLC25A2	83884	broad.mit.edu	37	5	140683056	140683056	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140683056G>A	ENST00000239451.4	-	1	556	c.377C>T	c.(376-378)cCc>cTc	p.P126L		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	126					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	AAGCTCAGTGGGGCAGAGAGC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	106	103			NA	NA	5		NA											NA				140683056		2203	4300	6503	SO:0001583	missense			AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329	83884	83884		Solute carriers	22921	protein-coding gene	gene with protein product		608157			NA	11004451	Standard	NM_031947	NM_031947	NA	Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.377C>T	5.37:g.140683056G>A	ENSP00000239451:p.Pro126Leu	NA	Q496C1|Q6XUI0|Q8NFZ2	37	CCDS4258.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333595	0.81801	.	.	ENSG00000120329	ENST00000239451	D	0.96940	-4.18	3.78	3.78	0.43462	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.98823	0.9603	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98607	1.0661	10	0.87932	D	0	-23.9508	13.9383	0.64039	0.0:0.0:1.0:0.0	.	126	Q9BXI2	ORNT2_HUMAN	L	126	ENSP00000239451:P126L	ENSP00000239451:P126L	P	-	2	0	SLC25A2	140663240	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	8.721000	0.91446	2.424000	0.82194	0.650000	0.86243	CCC	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251799.2		-	ENST00000239451.4	Missense_Mutation	SNP	5 : 140683056 - 140683056 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	861	153
DENND1C	79958	broad.mit.edu	37	19	6479048	6479048	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6479048C>T	ENST00000381480.2	-	5	308	c.196G>A	c.(196-198)Gtg>Atg	p.V66M	DENND1C_ENST00000543576.1_Missense_Mutation_p.V22M|DENND1C_ENST00000591030.1_5'UTR	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	66	UDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	p.V66L(1)|p.V92L(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						AAATGCTGCACGGCGGGGCTG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(2)						C	MET/VAL	1,3867		0,1,1933	49	60	57		196	5.2	0	19		57	1,8261		0,1,4130	no	missense	DENND1C	NM_024898.2	21	0,2,6063	TT,TC,CC	NA	0.0121,0.0259,0.0165	probably-damaging	66/802	6479048	2,12128	1934	4131	6065	SO:0001583	missense			AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744	79958	79958		DENN/MADD domain containing	26225	protein-coding gene	gene with protein product		613634	family with sequence similarity 31, member C	FAM31C	NA	12477932	Standard	NM_024898	XM_005259646	NA	Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.196G>A	19.37:g.6479048C>T	ENSP00000370889:p.Val66Met	NA	B4E051|D3PFD4|Q8NDB1|Q9H5Z2	37	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698972	0.68501	2.59E-4	1.21E-4	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.42513	0.97;0.97	5.24	5.24	0.73138	uDENN (3);	0.704654	0.13525	N	0.381405	T	0.66713	0.2817	M	0.80422	2.495	0.21697	N	0.999583	D	0.76494	0.999	D	0.67725	0.953	T	0.60244	-0.7301	10	0.52906	T	0.07	-14.6092	16.2903	0.82747	0.0:1.0:0.0:0.0	.	66	Q8IV53	DEN1C_HUMAN	M	66;22	ENSP00000370889:V66M;ENSP00000437805:V22M	ENSP00000370889:V66M	V	-	1	0	DENND1C	6430048	0.894000	0.30519	0.025000	0.17156	0.826000	0.46750	5.660000	0.68018	2.459000	0.83118	0.313000	0.20887	GTG	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453332.2		-	ENST00000381480.2	Missense_Mutation	SNP	19 : 6479048 - 6479048 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	650	115
APC	324	broad.mit.edu	37	5	112111375	112111375	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112111375T>C	ENST00000457016.1	+	5	852	c.472T>C	c.(472-474)Tat>Cat	p.Y158H	APC_ENST00000508376.2_Missense_Mutation_p.Y158H|APC_ENST00000257430.4_Missense_Mutation_p.Y158H			P25054	APC_HUMAN	adenomatous polyposis coli	158	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAAAGACTGGTATTACGCTCA	0.289		12	D, Mis, N, F, S		colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS	colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		E, M, O	0			GRCh37	CI042641	APC	I							94	100	98			NA	NA	5		NA											NA				112111375		2202	4294	6496	SO:0001583	missense	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982	324	324		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Armadillo repeat containing	583	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 46	611731	adenomatosis polyposis coli		NA	1651563	Standard	NM_000038	NM_001127511	NA	Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.472T>C	5.37:g.112111375T>C	ENSP00000413133:p.Tyr158His	NA	D3DT03|Q15162|Q15163|Q93042	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.460506	0.84317	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.92658	0.7667	L	0.52573	1.65	0.58432	D	0.999991	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.999	D	0.93476	0.6823	10	0.87932	D	0	-14.6976	15.5121	0.75793	0.0:0.0:0.0:1.0	.	160;158	Q4LE70;P25054	.;APC_HUMAN	H	158;168;158;158;158	ENSP00000413133:Y158H;ENSP00000423224:Y168H;ENSP00000257430:Y158H;ENSP00000427089:Y158H;ENSP00000423828:Y158H	ENSP00000257430:Y158H	Y	+	1	0	APC	112139274	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.348000	0.79366	2.065000	0.61736	0.533000	0.62120	TAT	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250738.2		+	ENST00000457016.1	Missense_Mutation	SNP	5 : 112111375 - 112111375 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	490	89
PITPNM3	83394	broad.mit.edu	37	17	6364709	6364709	+	Missense_Mutation	SNP	C	C	T	rs148826628		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6364709C>T	ENST00000262483.8	-	18	2561	c.2474G>A	c.(2473-2475)cGc>cAc	p.R825H	PITPNM3_ENST00000421306.3_Missense_Mutation_p.R789H|PITPNM3_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	NA					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CATGAGGTTGCGCAGGAAGAT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	92	81	85		2366,2474	4.6	1	17	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PITPNM3	NM_001165966.1,NM_031220.3	29,29	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging	789/939,825/975	6364709	1,13005	2203	4300	6503	SO:0001583	missense			AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622	83394	83394		GPCR / Class A : Chemokine receptors : Atypical	21043	protein-coding gene	gene with protein product	atypical chemokine receptor 6	608921	cone rod dystrophy 5	CORD5	NA	10022914	Standard	NM_031220	NM_031220	NA	Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.2474G>A	17.37:g.6364709C>T	ENSP00000262483:p.Arg825His	NA	A1A5D0|Q59GH9|Q9NPQ4	37	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802640	0.70682	0.0	1.16E-4	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.76709	-1.04;-1.04	4.61	4.61	0.57282	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	D	0.83353	0.5236	L	0.50333	1.59	0.46356	D	0.999002	B;D	0.71674	0.33;0.998	B;D	0.63033	0.143;0.91	D	0.85338	0.1094	10	0.72032	D	0.01	.	15.3014	0.73955	0.0:1.0:0.0:0.0	.	789;825	F8WEW5;Q9BZ71	.;PITM3_HUMAN	H	825;789	ENSP00000262483:R825H;ENSP00000407882:R789H	ENSP00000262483:R825H	R	-	2	0	PITPNM3	6305433	0.951000	0.32395	1.000000	0.80357	0.986000	0.74619	1.527000	0.35975	2.293000	0.77203	0.462000	0.41574	CGC	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219824.2		-	ENST00000262483.8	Missense_Mutation	SNP	17 : 6364709 - 6364709 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	505	101
TTN	7273	broad.mit.edu	37	2	179615383	179615383	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179615383C>T	ENST00000589042.1	-	47	11536				TTN_ENST00000360870.5_Missense_Mutation_p.R3915Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	NA							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCATCAATTCGTGTAGAAGC	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	59	58			NA	NA	2		NA											NA				179615383		2201	4297	6498	SO:0001627	intron_variant			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.11311+2467G>A	2.37:g.179615383C>T		NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	T	10.49	1.365779	0.24684	.	.	ENSG00000155657	ENST00000360870	T	0.56776	0.44	5.55	4.35	0.52113	.	.	.	.	.	T	0.26738	0.0654	N	0.08118	0	0.09310	N	0.999998	B	0.10296	0.003	B	0.04013	0.001	T	0.26326	-1.0106	9	0.13108	T	0.6	.	4.4553	0.11640	0.141:0.1711:0.0:0.6879	.	3915	Q8WZ42-6	.	Q	3915	ENSP00000354117:R3915Q	ENSP00000354117:R3915Q	R	-	2	0	TTN	179323628	0.022000	0.18835	0.001000	0.08648	0.028000	0.11728	2.154000	0.42291	0.434000	0.26340	-0.254000	0.11334	CGA	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Intron	SNP	2 : 179615383 - 179615383 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	187	34
SLC22A7	10864	broad.mit.edu	37	6	43266443	43266443	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43266443G>A	ENST00000372585.5	+	1	442	c.347G>A	c.(346-348)gGc>gAc	p.G116D	SLC22A7_ENST00000372574.3_Missense_Mutation_p.G116D|SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372589.3_Missense_Mutation_p.G116D	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	116						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			TGCTCTCAGGGCTGGGAGTAC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	66	64			NA	NA	6		NA											NA				43266443		2203	4300	6503	SO:0001583	missense			AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204	10864	10864		Solute carriers	10971	protein-coding gene	gene with protein product		604995			NA	9650585, 10773670	Standard		XM_006714970	NA	Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.347G>A	6.37:g.43266443G>A	ENSP00000361666:p.Gly116Asp	NA	B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	37	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392893	0.83011	.	.	ENSG00000137204	ENST00000449231;ENST00000372589;ENST00000372585;ENST00000372574	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.63	4.76	0.60689	Major facilitator superfamily domain (1);	0.105475	0.64402	D	0.000004	T	0.66567	0.2802	M	0.90595	3.13	0.49915	D	0.999835	D;D;D	0.61697	0.99;0.987;0.987	D;D;D	0.71414	0.973;0.954;0.954	T	0.75897	-0.3155	10	0.87932	D	0	.	13.7614	0.62968	0.0:0.0:0.8451:0.1549	.	116;116;116	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	D	116	ENSP00000411818:G116D;ENSP00000361670:G116D;ENSP00000361666:G116D;ENSP00000361655:G116D	ENSP00000361655:G116D	G	+	2	0	SLC22A7	43374421	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.944000	0.70219	1.361000	0.45981	0.563000	0.77884	GGC	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040588.1		+	ENST00000372585.5	Missense_Mutation	SNP	6 : 43266443 - 43266443 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	54
OR10S1	219873	broad.mit.edu	37	11	123847714	123847714	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123847714C>T	ENST00000531945.1	-	1	774	c.685G>A	c.(685-687)Gtt>Att	p.V229I		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V229I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TAGGAAATAACGATGAGGATG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											53	48	50			NA	NA	11		NA											NA				123847714		2202	4299	6501	SO:0001583	missense			BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248	219873	219873		GPCR / Class A : Olfactory receptors	14807	protein-coding gene	gene with protein product					NA		Standard	NM_001004474	NM_001004474	NA	Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.685G>A	11.37:g.123847714C>T	ENSP00000431914:p.Val229Ile	NA	B9EH43|Q6IEV3|Q96R78	37	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	C	0.756	-0.771154	0.02974	.	.	ENSG00000196248	ENST00000531945	T	0.00256	8.42	4.85	-9.7	0.00521	GPCR, rhodopsin-like superfamily (1);	1.014880	0.07935	N	0.978190	T	0.00109	0.0003	N	0.12746	0.255	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.33523	-0.9865	10	0.35671	T	0.21	-8.6411	10.3645	0.44015	0.0677:0.1727:0.0824:0.6771	.	229	Q8NGN2	O10S1_HUMAN	I	229	ENSP00000431914:V229I	ENSP00000431914:V229I	V	-	1	0	OR10S1	123352924	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-5.012000	0.00160	-3.372000	0.00177	-2.983000	0.00079	GTT	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387265.2		-	ENST00000531945.1	Missense_Mutation	SNP	11 : 123847714 - 123847714 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	79
GRIN2D	2906	broad.mit.edu	37	19	48922979	48922979	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48922979G>A	ENST00000263269.3	+	9	2087	c.1999G>A	c.(1999-2001)Gtc>Atc	p.V667I		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	667						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CTTCTTCGCCGTCATCTTCCT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	118	123			NA	NA	19		NA											NA				48922979		2203	4300	6503	SO:0001583	missense			U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464	2906	2906		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4588	protein-coding gene	gene with protein product	N-methyl-d-aspartate receptor subunit 2D	602717		NMDAR2D	NA	9480759, 9418891	Standard		NM_000836	NA	Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1999G>A	19.37:g.48922979G>A	ENSP00000263269:p.Val667Ile	NA		37	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139824	0.94560	.	.	ENSG00000105464	ENST00000263269	T	0.52057	0.68	4.57	4.57	0.56435	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.64402	D	0.000001	T	0.68659	0.3025	M	0.75615	2.305	0.58432	D	0.999998	D	0.76494	0.999	D	0.81914	0.995	T	0.73251	-0.4042	10	0.87932	D	0	.	16.6521	0.85219	0.0:0.0:1.0:0.0	.	667	O15399	NMDE4_HUMAN	I	667	ENSP00000263269:V667I	ENSP00000263269:V667I	V	+	1	0	GRIN2D	53614791	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	9.587000	0.98229	2.543000	0.85770	0.643000	0.83706	GTC	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466121.1		+	ENST00000263269.3	Missense_Mutation	SNP	19 : 48922979 - 48922979 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	852	88
STXBP5	134957	broad.mit.edu	37	6	147680400	147680400	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147680400T>C	ENST00000367481.3	+	21	2486	c.2378T>C	c.(2377-2379)cTg>cCg	p.L793P	STXBP5_ENST00000179882.6_Missense_Mutation_p.L484P|STXBP5_ENST00000321680.6_Missense_Mutation_p.L829P|STXBP5_ENST00000367480.3_Missense_Mutation_p.L776P	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	829					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GTCATTGCACTGAACCTTCCC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	101	106			NA	NA	6		NA											NA				147680400		2203	4300	6503	SO:0001583	missense			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506	NA	134957		WD repeat domain containing	19665	protein-coding gene	gene with protein product		604586			NA	9620695, 14767561	Standard		NM_139244	NA	Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000367481.3:c.2378T>C	6.37:g.147680400T>C	ENSP00000356451:p.Leu793Pro	NA	Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	37	CCDS5211.1	.	.	.	.	.	.	.	.	.	.	t	24.0	4.478563	0.84747	.	.	ENSG00000164506	ENST00000367479;ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882;ENST00000392291	T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000001	T	0.58061	0.2096	M	0.80616	2.505	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.66497	0.944;0.943;0.937	T	0.66160	-0.5993	10	0.87932	D	0	.	15.4235	0.75031	0.0:0.0:0.0:1.0	.	793;829;484	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	P	168;793;829;776;484;153	ENSP00000356451:L793P;ENSP00000321826:L829P;ENSP00000356450:L776P;ENSP00000179882:L484P;ENSP00000376112:L153P	ENSP00000179882:L484P	L	+	2	0	STXBP5	147722093	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.047000	0.60756	0.529000	0.55759	CTG	STXBP5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042605.1		+	ENST00000367481.3	Missense_Mutation	SNP	6 : 147680400 - 147680400 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	434	53
ANAPC2	29882	broad.mit.edu	37	9	140082017	140082017	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140082017G>A	ENST00000323927.2	-	2	660	c.656C>T	c.(655-657)cCg>cTg	p.P219L		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	219					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		TGCACACAGCGGGCTCTGCAG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	78	78			NA	NA	9		NA											NA				140082017		2203	4300	6503	SO:0001583	missense			AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248	29882	29882		Anaphase promoting complex subunits	19989	protein-coding gene	gene with protein product		606946			NA	11739784	Standard	NM_013366	NM_013366	NA	Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.656C>T	9.37:g.140082017G>A	ENSP00000314004:p.Pro219Leu	NA	Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	37	CCDS7033.1	.	.	.	.	.	.	.	.	.	.	G	6.461	0.453188	0.12283	.	.	ENSG00000176248	ENST00000323927	T	0.03663	3.85	5.09	4.09	0.47781	.	0.243014	0.42964	D	0.000629	T	0.03053	0.0090	N	0.22421	0.69	0.44409	D	0.997329	B;B	0.12013	0.003;0.005	B;B	0.08055	0.001;0.003	T	0.52034	-0.8629	10	0.25751	T	0.34	-28.5775	11.4869	0.50358	0.0:0.0:0.8082:0.1918	.	219;219	Q9UJX6;Q9UJX6-2	ANC2_HUMAN;.	L	219	ENSP00000314004:P219L	ENSP00000314004:P219L	P	-	2	0	ANAPC2	139201838	0.408000	0.25360	0.953000	0.39169	0.790000	0.44656	0.625000	0.24477	2.365000	0.80145	0.561000	0.74099	CCG	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055315.1		-	ENST00000323927.2	Missense_Mutation	SNP	9 : 140082017 - 140082017 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	709	117
ANO5	203859	broad.mit.edu	37	11	22301230	22301230	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22301230C>T	ENST00000324559.8	+	22	2978	c.2661C>T	c.(2659-2661)aaC>aaT	p.N887N		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	887						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TAAAAGAGAACTTGGGAATTA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	71	70			NA	NA	11		NA											NA				22301230		2203	4299	6502	SO:0001819	synonymous_variant			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714	203859	203859		Ion channels / Chloride channels : Calcium activated : Anoctamins	27337	protein-coding gene	gene with protein product		608662	transmembrane protein 16E, limb girdle muscular dystrophy 2L (autosomal recessive)	TMEM16E, LGMD2L	NA	15067359, 20096397, 24692353	Standard	NM_213599	NM_213599	NA	Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2661C>T	11.37:g.22301230C>T		NA		37	CCDS31444.1																																																																																			ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387615.1		+	ENST00000324559.8	Silent	SNP	11 : 22301230 - 22301230 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	303	43
EXT1	2131	broad.mit.edu	37	8	119122901	119122901	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:119122901C>T	ENST00000378204.2	-	1	1191	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	129					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TGGTAACTTTCGGCGATTTTC	0.507		NA	Mis, N, F, S			exostoses, osteosarcoma			Langer-Giedion syndrome;Hereditary Multiple Exostoses					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	0													87	95	92			NA	NA	8		NA											NA				119122901		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2131	2131	2.4.1.224, 2.4.1.225	Exostosin glycosyltransferase family	3512	protein-coding gene	gene with protein product	Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase, N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase	608177	Langer-Giedion syndrome chromosome region, exostoses (multiple) 1, exostosin 1	LGCR, LGS	NA		Standard	NM_000127	NM_000127	NA	Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.385G>A	8.37:g.119122901C>T	ENSP00000367446:p.Glu129Lys	NA	B2R7V2|Q9BVI9	37	CCDS6324.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.271343	0.59649	.	.	ENSG00000182197	ENST00000378204	D	0.97598	-4.45	5.47	4.54	0.55810	.	0.000000	0.85682	D	0.000000	D	0.94434	0.8209	L	0.42245	1.32	0.58432	D	0.999999	P	0.40250	0.709	B	0.39840	0.311	D	0.93121	0.6525	10	0.17369	T	0.5	-16.4487	15.7067	0.77588	0.0:0.863:0.137:0.0	.	129	Q16394	EXT1_HUMAN	K	129	ENSP00000367446:E129K	ENSP00000367446:E129K	E	-	1	0	EXT1	119192082	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.938000	0.70170	2.558000	0.86282	0.462000	0.41574	GAA	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132768.3		-	ENST00000378204.2	Missense_Mutation	SNP	8 : 119122901 - 119122901 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	561	117
KCNC1	3746	broad.mit.edu	37	11	17793582	17793582	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17793582G>A	ENST00000379472.3	+	2	971	c.941G>A	c.(940-942)cGc>cAc	p.R314H	KCNC1_ENST00000265969.6_Missense_Mutation_p.R314H	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	314						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CGCGTCGTCCGCTTCGTGCGC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	62	64			NA	NA	11		NA											NA				17793582		2200	4293	6493	SO:0001583	missense			M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159	3746	3746		Potassium channels, Voltage-gated ion channels / Potassium channels	6233	protein-coding gene	gene with protein product		176258			NA	8449507, 16382104	Standard	NM_004976	NM_004976	NA	Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.941G>A	11.37:g.17793582G>A	ENSP00000368785:p.Arg314His	NA		37	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241352	0.79912	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.99239	-5.61;-5.61	4.95	4.95	0.65309	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99597	0.9854	H	0.94886	3.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.97794	1.0240	10	0.87932	D	0	.	18.1947	0.89817	0.0:0.0:1.0:0.0	.	314;314	Q3KNS8;P48547	.;KCNC1_HUMAN	H	314	ENSP00000265969:R314H;ENSP00000368785:R314H	ENSP00000265969:R314H	R	+	2	0	KCNC1	17750158	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.869000	0.99810	2.290000	0.77057	0.561000	0.74099	CGC	KCNC1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389389.1		+	ENST00000379472.3	Missense_Mutation	SNP	11 : 17793582 - 17793582 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	55
LYG1	129530	broad.mit.edu	37	2	99909057	99909057	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99909057G>A	ENST00000409448.1	-	5	406	c.90C>T	c.(88-90)agC>agT	p.S30S	LYG1_ENST00000308528.4_Silent_p.S30S			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	30					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						GGGTGTCCAGGCTTTGGATGT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	162	167			NA	NA	2		NA											NA				99909057		2203	4300	6503	SO:0001819	synonymous_variant			BC029126	CCDS2043.1	2q11.2	2008-02-05			ENSG00000144214	ENSG00000144214	129530	129530			27014	protein-coding gene	gene with protein product					NA	12574869	Standard	NM_174898	NM_174898	NA	Approved	SALW1939	uc002szy.3	Q8N1E2	OTTHUMG00000130639	ENST00000409448.1:c.90C>T	2.37:g.99909057G>A		NA	Q53RV9	37	CCDS2043.1																																																																																			LYG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330315.1		-	ENST00000409448.1	Silent	SNP	2 : 99909057 - 99909057 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	541	156
FAT3	120114	broad.mit.edu	37	11	92088327	92088327	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92088327C>T	ENST00000525166.1	+	1	2621	c.2599C>T	c.(2599-2601)Cgg>Tgg	p.R867W	FAT3_ENST00000298047.6_Missense_Mutation_p.R1017W|FAT3_ENST00000541502.1_Missense_Mutation_p.R1017W|FAT3_ENST00000409404.2_Missense_Mutation_p.R1017W			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1017	Cadherin 8.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGACAAAGGGCGGCCTGTCTC	0.463		NA								TCGA Ovarian(4;0.039)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	88	88			NA	NA	11		NA											NA				92088327		1940	4144	6084	SO:0001583	missense			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323	120114	120114		Cadherins / Cadherin-related	23112	protein-coding gene	gene with protein product	cadherin-related family member 10	612483	FAT tumor suppressor homolog 3 (Drosophila)		NA	11811999	Standard	NM_001008781	NM_001008781	NA	Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000525166.1:c.2599C>T	11.37:g.92088327C>T	ENSP00000432586:p.Arg867Trp	NA	B5MDB0|Q96AU6	37		.	.	.	.	.	.	.	.	.	.	C	15.12	2.738915	0.49045	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.82	4.9	0.64082	.	.	.	.	.	T	0.60379	0.2264	L	0.46670	1.46	0.35678	D	0.813842	D	0.89917	1.0	D	0.70935	0.971	T	0.70737	-0.4790	9	0.62326	D	0.03	.	13.1108	0.59273	0.2917:0.7083:0.0:0.0	.	1017	Q8TDW7-3	.	W	1017;1017;1017;867	ENSP00000298047:R1017W;ENSP00000387040:R1017W;ENSP00000443786:R1017W;ENSP00000432586:R867W	ENSP00000298047:R1017W	R	+	1	2	FAT3	91727975	0.951000	0.32395	1.000000	0.80357	1.000000	0.99986	1.969000	0.40510	1.452000	0.47756	0.655000	0.94253	CGG	FAT3-001	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000335363.3		+	ENST00000525166.1	Missense_Mutation	SNP	11 : 92088327 - 92088327 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	205	11
PITPNA	5306	broad.mit.edu	37	17	1438814	1438814	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1438814T>C	ENST00000313486.7	-	8	712		c.e8-2		PITPNA_ENST00000539476.1_Splice_Site	NM_006224.3	NP_006215.1	Q00169	PIPNA_HUMAN	phosphatidylinositol transfer protein, alpha	NA					axon guidance|lipid metabolic process|visual perception	cytoplasm	phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		CTTGTAATCCTGAGAGAAATT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	56	57			NA	NA	17		NA											NA				1438814		1869	4107	5976	SO:0001630	splice_region_variant			M73704	CCDS45563.1	17p13.3	2012-06-29	2003-05-09	2004-09-03	ENSG00000174238	ENSG00000174238	5306	5306			9001	protein-coding gene	gene with protein product		600174	phosphotidylinositol transfer protein	PITPN	NA	8255295	Standard		NM_006224	NA	Approved	VIB1A	uc021tnf.1	Q00169	OTTHUMG00000177779	ENST00000313486.7:c.457-2A>G	17.37:g.1438814T>C		NA		37	CCDS45563.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.187847	0.78789	.	.	ENSG00000174238	ENST00000539476;ENST00000313486;ENST00000539870	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.913	0.70773	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PITPNA	1385564	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.933000	0.87642	2.205000	0.71048	0.533000	0.62120	.	PITPNA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438927.3	Intron	-	ENST00000313486.7	Splice_Site	SNP	17 : 1438814 - 1438814 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	229	40
TRRAP	8295	broad.mit.edu	37	7	98552885	98552885	+	Silent	SNP	G	G	A	rs143014711		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98552885G>A	ENST00000446306.3	+	38	5878	c.5817G>A	c.(5815-5817)ccG>ccA	p.P1939P	TRRAP_ENST00000355540.3_Silent_p.P1940P|TRRAP_ENST00000359863.4_Silent_p.P1958P			Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1958					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACACCGTCCCGCAGCTGGTCC	0.627		NA											G	2	9e-04	0.0041	NA	2184	NA	0.9992	,	,	NA	4e-04	NA	NA	NA	0.0013	0.7614	EXOME	NA	NA	6e-04	SNP								NA				0								G		1,4405	2.1+/-5.4	0,1,2202	44	38	40		5820	-11.1	0	7	dbSNP_134	40	0,8600		0,0,4300	no	coding-synonymous	TRRAP	NM_003496.3		0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077		1940/3831	98552885	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367	8295	8295			12347	protein-coding gene	gene with protein product		603015			NA	9708738, 9885574	Standard	NM_003496	NM_003496	NA	Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000446306.3:c.5817G>A	7.37:g.98552885G>A		NA	A4D265|O75218|Q9Y631|Q9Y6H4	37		2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	4.528	0.098067	0.08681	2.27E-4	0.0	ENSG00000196367	ENST00000456197	.	.	.	5.56	-11.1	0.00147	.	.	.	.	.	T	0.32763	0.0840	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58205	-0.7677	4	.	.	.	.	1.8097	0.03088	0.3324:0.1798:0.3146:0.1732	.	.	.	.	H	1680	.	.	R	+	2	0	TRRAP	98390821	0.000000	0.05858	0.027000	0.17364	0.630000	0.37929	-2.283000	0.01155	-5.225000	0.00019	-1.446000	0.01064	CGC	TRRAP-004	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000317981.3		+	ENST00000446306.3	Silent	SNP	7 : 98552885 - 98552885 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	29
DIAPH3	81624	broad.mit.edu	37	13	60686224	60686224	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:60686224C>A	ENST00000400324.4	-	3	530	c.310G>T	c.(310-312)Gca>Tca	p.A104S	DIAPH3_ENST00000400320.1_Missense_Mutation_p.A93S|DIAPH3_ENST00000400319.1_Intron|DIAPH3_ENST00000267215.4_Missense_Mutation_p.A104S|DIAPH3_ENST00000400330.1_Missense_Mutation_p.A104S|DIAPH3_ENST00000377908.2_Missense_Mutation_p.A93S	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	104					actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAAGGTGCTGCTGAGCAATCA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													194	180	185			NA	NA	13		NA											NA				60686224		1852	4113	5965	SO:0001583	missense			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734	81624	81624			15480	protein-coding gene	gene with protein product		614567	diaphanous (Drosophila, homolog) 3, auditory neuropathy, autosomal dominant 1, diaphanous homolog 3 (Drosophila)	AUNA1	NA	14767582, 20624953	Standard	NM_001042517	NM_030932	NA	Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.310G>T	13.37:g.60686224C>A	ENSP00000383178:p.Ala104Ser	NA	A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	37	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.030165	0.00410	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000377908;ENST00000400320;ENST00000267215;ENST00000453990	T;T;T;T;T	0.80393	-1.37;-1.37;-1.35;-0.98;-1.37	4.24	1.8	0.24995	.	0.720518	0.12749	N	0.442318	T	0.51398	0.1672	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.37549	-0.9701	10	0.15952	T	0.53	.	4.2547	0.10712	0.663:0.2219:0.1151:0.0	.	93;93;104	C9JL55;C9JDG1;Q9NSV4	.;.;DIAP3_HUMAN	S	104;104;93;93;93;93;104;104	ENSP00000383178:A104S;ENSP00000383184:A104S;ENSP00000367141:A93S;ENSP00000383174:A93S;ENSP00000267215:A104S	ENSP00000267215:A104S	A	-	1	0	DIAPH3	59584225	0.001000	0.12720	0.000000	0.03702	0.030000	0.12068	0.732000	0.26072	0.080000	0.16959	-0.262000	0.10625	GCA	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045166.3		-	ENST00000400324.4	Missense_Mutation	SNP	13 : 60686224 - 60686224 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	937	140
NOL8	55035	broad.mit.edu	37	9	95073540	95073540	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95073540T>C	ENST00000535387.1	-	7	2358				NOL8_ENST00000542053.1_Splice_Site_p.D719G|NOL8_ENST00000358855.4_Splice_Site_p.D719G|NOL8_ENST00000442668.2_Splice_Site_p.D787G|NOL8_ENST00000545558.1_Splice_Site_p.D787G			Q76FK4	NOL8_HUMAN	nucleolar protein 8	NA					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TGGATGACCATCCTAGGGAGG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	86	90			NA	NA	9		NA											NA				95073540		1949	4136	6085	SO:0001627	intron_variant			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000	55035	55035		RNA binding motif (RRM) containing	23387	protein-coding gene	gene with protein product		611534	chromosome 9 open reading frame 34	C9orf34	NA	12477932	Standard	NM_017948	NM_017948	NA	Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.2359-583A>G	9.37:g.95073540T>C		NA	Q5TCC7|Q5TCC8|Q5TCD3|Q5TCD5|Q5TCD6|Q5TCD7|Q76D35|Q7L3E2|Q9H586|Q9H795|Q9H7W7|Q9H9J6|Q9NWA4|Q9NWM4	37	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	T	17.26	3.343763	0.61073	.	.	ENSG00000198000	ENST00000442668;ENST00000358855;ENST00000545558;ENST00000542053;ENST00000432670	T;T;T;T;T	0.52754	2.04;2.04;2.04;2.04;0.65	5.12	5.12	0.69794	.	0.099953	0.64402	D	0.000003	T	0.65678	0.2714	M	0.67953	2.075	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.965	T	0.69363	-0.5165	10	0.72032	D	0.01	-18.7307	13.577	0.61879	0.0:0.0:0.0:1.0	.	719;787	Q76FK4-2;Q76FK4	.;NOL8_HUMAN	G	787;719;787;719;787	ENSP00000401177:D787G;ENSP00000351723:D719G;ENSP00000441140:D787G;ENSP00000440709:D719G;ENSP00000414112:D787G	ENSP00000351723:D719G	D	-	2	0	NOL8	94113361	1.000000	0.71417	1.000000	0.80357	0.404000	0.30871	3.488000	0.53229	1.941000	0.56285	0.524000	0.50904	GAT	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053082.2		-	ENST00000535387.1	Intron	SNP	9 : 95073540 - 95073540 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	115	28
GLI2	2736	broad.mit.edu	37	2	121743937	121743937	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:121743937C>T	ENST00000452319.1	+	13	2100	c.2040C>T	c.(2038-2040)ggC>ggT	p.G680G	GLI2_ENST00000361492.4_Silent_p.G680G|GLI2_ENST00000314490.11_Silent_p.G352G|GLI2_ENST00000435313.2_3'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	680					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				ATGACAGTGGCGTGGAGATGC	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	42	39			NA	NA	2		NA											NA				121743937		2203	4299	6502	SO:0001819	synonymous_variant				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047	2736	2736		Zinc fingers, C2H2-type	4318	protein-coding gene	gene with protein product	tax-responsive element-2 holding protein, tax helper protein 1, tax helper protein 2	165230	GLI-Kruppel family member GLI2, glioma-associated oncogene family zinc finger 2		NA	2850480, 9557682	Standard	NM_005270	NM_005270	NA	Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.2040C>T	2.37:g.121743937C>T		NA	O60252|O60253|O60254|O60255|Q15590|Q15591|Q4JHT4	37	CCDS33283.1																																																																																			GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000332293.3		+	ENST00000452319.1	Silent	SNP	2 : 121743937 - 121743937 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	423	24
GSG2	83903	broad.mit.edu	37	17	3628546	3628546	+	Silent	SNP	C	C	A	rs143089901	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3628546C>A	ENST00000325418.4	+	1	1336	c.1317C>A	c.(1315-1317)tcC>tcA	p.S439S	ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	439					cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity				NA						GGCACTCCTCCTCTATGTATT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	109	111			NA	NA	17		NA											NA				3628546		2203	4300	6503	SO:0001819	synonymous_variant			AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602	83903	83903			19682	protein-coding gene	gene with protein product		609240			NA		Standard	NM_031965	NM_031965	NA	Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.1317C>A	17.37:g.3628546C>A		NA	Q5U5K3|Q96MN1|Q9BXS7	37	CCDS11036.1																																																																																			GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207391.1		+	ENST00000325418.4	Silent	SNP	17 : 3628546 - 3628546 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	641	56
OR6A2	8590	broad.mit.edu	37	11	6816737	6816737	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6816737G>A	ENST00000332601.3	-	1	391	c.203C>T	c.(202-204)tCc>tTc	p.S68F		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTCCAGAAAGGACATATTAGC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	143	147			NA	NA	11		NA											NA				6816737		2201	4296	6497	SO:0001583	missense			AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933	8590	8590		GPCR / Class A : Olfactory receptors	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1	NA		Standard	NM_003696	NM_003696	NA	Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.203C>T	11.37:g.6816737G>A	ENSP00000330384:p.Ser68Phe	NA	Q3MJC7|Q6IF35|Q9H206	37	CCDS7772.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770423	0.69992	.	.	ENSG00000184933	ENST00000332601	T	0.12361	2.69	4.95	4.95	0.65309	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000064	T	0.47710	0.1460	M	0.92604	3.325	0.39007	D	0.959472	D	0.89917	1.0	D	0.91635	0.999	T	0.61530	-0.7044	10	0.87932	D	0	.	16.0847	0.81038	0.0:0.0:1.0:0.0	.	68	O95222	OR6A2_HUMAN	F	68	ENSP00000330384:S68F	ENSP00000330384:S68F	S	-	2	0	OR6A2	6773313	0.937000	0.31787	1.000000	0.80357	0.981000	0.71138	4.006000	0.57083	2.741000	0.93983	0.655000	0.94253	TCC	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385981.1		-	ENST00000332601.3	Missense_Mutation	SNP	11 : 6816737 - 6816737 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	565	116
SPRTN	83932	broad.mit.edu	37	1	231487087	231487087	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:231487087G>A	ENST00000391858.4	+	4	1768	c.488G>A	c.(487-489)cGg>cAg	p.R163Q	SPRTN_ENST00000008440.9_Missense_Mutation_p.R120Q|SPRTN_ENST00000295050.7_Missense_Mutation_p.R163Q|SPRTN_ENST00000469904.1_3'UTR					SprT-like N-terminal domain	NA											NA						GATGAGTATCGGCGACACTGG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	71	70			NA	NA	1		NA											NA				231487087		2203	4300	6503	SO:0001583	missense			AL512744	CCDS1594.1, CCDS31054.1, CCDS58066.1	1q42.12-q43	2013-01-30	2012-06-18	2012-06-18	ENSG00000010072	ENSG00000010072	83932	83932			25356	protein-coding gene	gene with protein product	SprT-like domain at the N terminus, DNA damage-targeting VCP (p97) adaptor		chromosome 1 open reading frame 124	C1orf124	NA	22681887	Standard	NM_032018	NM_032018	NA	Approved	DKFZP547N043, Spartan, DVC1	uc001hur.4	Q9H040	OTTHUMG00000038022	ENST00000391858.4:c.488G>A	1.37:g.231487087G>A	ENSP00000375731:p.Arg163Gln	NA		37	CCDS31054.1	.	.	.	.	.	.	.	.	.	.	G	36	5.897455	0.97081	.	.	ENSG00000010072	ENST00000391858;ENST00000295050;ENST00000008440;ENST00000545269;ENST00000366644	T;T;T	0.44881	0.91;0.91;0.91	5.74	5.74	0.90152	Domain of unknown function SprT-like (2);	0.000000	0.85682	D	0.000000	T	0.62233	0.2411	L	0.56199	1.76	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.989	D;D;P	0.91635	0.999;0.914;0.902	T	0.54180	-0.8332	10	0.35671	T	0.21	-32.4859	20.2835	0.98531	0.0:0.0:1.0:0.0	.	120;163;163	B1AKT0;Q9H040-2;Q9H040	.;.;CA124_HUMAN	Q	163;163;120;120;59	ENSP00000375731:R163Q;ENSP00000295050:R163Q;ENSP00000355604:R59Q	ENSP00000008440:R120Q	R	+	2	0	C1orf124	229553710	1.000000	0.71417	0.983000	0.44433	0.957000	0.61999	9.813000	0.99286	2.873000	0.98535	0.643000	0.83706	CGG	SPRTN-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092859.1		+	ENST00000391858.4	Missense_Mutation	SNP	1 : 231487087 - 231487087 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	523	120
THADA	63892	broad.mit.edu	37	2	43801511	43801511	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43801511C>T	ENST00000403856.1	-	12	1840	c.1693G>A	c.(1693-1695)Gta>Ata	p.V565I	THADA_ENST00000404790.1_Missense_Mutation_p.V565I|THADA_ENST00000330266.7_Missense_Mutation_p.V275I|THADA_ENST00000415080.2_Missense_Mutation_p.V275I|THADA_ENST00000405006.4_Missense_Mutation_p.V565I|THADA_ENST00000402360.2_Missense_Mutation_p.V565I|THADA_ENST00000405975.2_Missense_Mutation_p.V565I			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	565							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AGAATCTTTACCATGTACTGT	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ILE/VAL,ILE/VAL	1,3611		0,1,1805	28	27	27		1693,1693	5.9	1	2		27	0,8146		0,0,4073	no	missense,missense	THADA	NM_001083953.1,NM_022065.4	29,29	0,1,5878	TT,TC,CC	NA	0.0,0.0277,0.0085	benign,benign	565/1954,565/1954	43801511	1,11757	1806	4073	5879	SO:0001583	missense			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970	63892	63892			19217	protein-coding gene	gene with protein product		611800			NA	12063398, 11214970	Standard	NM_022065	NM_022065	NA	Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000403856.1:c.1693G>A	2.37:g.43801511C>T	ENSP00000385469:p.Val565Ile	NA	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	37		.	.	.	.	.	.	.	.	.	.	C	12.21	1.870952	0.33069	2.77E-4	0.0	ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T;T;T	0.64438	1.59;1.59;1.59;1.59;-0.1;-0.1;1.59	5.94	5.94	0.96194	Armadillo-type fold (1);	0.138436	0.48767	D	0.000176	T	0.44265	0.1285	L	0.39397	1.21	0.34512	D	0.707249	P;B;P;B;P	0.38020	0.597;0.319;0.566;0.431;0.615	B;B;B;B;B	0.33568	0.166;0.069;0.138;0.065;0.1	T	0.51888	-0.8648	10	0.12430	T	0.62	-0.738	5.7072	0.17915	0.1707:0.6832:0.0:0.1461	.	565;565;565;275;565	B5MC89;Q8IY32;Q6YHU6-5;C9JJB1;Q6YHU6	.;.;.;.;THADA_HUMAN	I	275;565;565;275;565;565;565;565	ENSP00000331105:V275I;ENSP00000386088:V565I;ENSP00000416048:V275I;ENSP00000385995:V565I;ENSP00000385441:V565I;ENSP00000384266:V565I;ENSP00000385469:V565I	ENSP00000331105:V275I	V	-	1	0	THADA	43655015	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.380000	0.52448	2.816000	0.96949	0.561000	0.74099	GTA	THADA-005	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000326073.1		-	ENST00000403856.1	Missense_Mutation	SNP	2 : 43801511 - 43801511 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	78	16
NDST1	3340	broad.mit.edu	37	5	149929267	149929267	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149929267C>T	ENST00000523767.1	+	12	2762	c.2173C>T	c.(2173-2175)Cgc>Tgc	p.R725C	NDST1_ENST00000261797.6_Missense_Mutation_p.R782C			P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	782	Heparan sulfate N-sulfotransferase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAACTGCTTCGCACAGAACC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	97	104			NA	NA	5		NA											NA				149929267		2203	4300	6503	SO:0001583	missense			U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614	3340	3340		Sulfotransferases, membrane-bound	7680	protein-coding gene	gene with protein product		600853		HSST	NA	7601448, 9230113	Standard	NM_001543	NM_001543	NA	Approved	NST1	uc003lsk.4	P52848		ENST00000523767.1:c.2173C>T	5.37:g.149929267C>T	ENSP00000428604:p.Arg725Cys	NA	Q96E57	37		.	.	.	.	.	.	.	.	.	.	C	20.5	4.007009	0.74932	.	.	ENSG00000070614	ENST00000523767;ENST00000261797	T;D	0.82893	0.5;-1.66	5.01	3.17	0.36434	Sulfotransferase domain (1);	0.056562	0.64402	D	0.000001	D	0.89784	0.6815	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.967;0.985	D	0.90059	0.4155	10	0.72032	D	0.01	.	14.0209	0.64555	0.2763:0.7237:0.0:0.0	.	725;782	E7EVJ3;P52848	.;NDST1_HUMAN	C	725;782	ENSP00000428604:R725C;ENSP00000261797:R782C	ENSP00000261797:R782C	R	+	1	0	NDST1	149909460	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	1.493000	0.35605	0.583000	0.29574	0.591000	0.81541	CGC	NDST1-001	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000374313.1		+	ENST00000523767.1	Missense_Mutation	SNP	5 : 149929267 - 149929267 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	124	34
DNHD1	144132	broad.mit.edu	37	11	6541262	6541262	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6541262T>C	ENST00000527990.2	+	7	1715	c.1715T>C	c.(1714-1716)gTg>gCg	p.V572A	DNHD1_ENST00000354685.3_Missense_Mutation_p.V572A|DNHD1_ENST00000254579.6_Missense_Mutation_p.V572A			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	572					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTGTCTCATGTGCCCTGTGTT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	127	132			NA	NA	11		NA											NA				6541262		2201	4296	6497	SO:0001583	missense			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532	144132	144132			26532	protein-coding gene	gene with protein product			chromosome 11 open reading frame 47, dynein heavy chain domain 1-like, coiled-coil domain containing 35	DHCD1, C11orf47, DNHD1L, CCDC35	NA	12975309	Standard	NM_144666	NM_173589	NA	Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.1715T>C	11.37:g.6541262T>C	ENSP00000436180:p.Val572Ala	NA	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	T	2.002	-0.429110	0.04701	.	.	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.26957	1.7;2.74;1.7	5.88	2.21	0.28008	.	0.953008	0.08759	N	0.898000	T	0.10852	0.0265	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.001;0.004	T	0.39418	-0.9615	10	0.09590	T	0.72	.	4.5634	0.12172	0.4278:0.0956:0.0:0.4766	.	572;572	Q96M86;Q96M86-4	DNHD1_HUMAN;.	A	572	ENSP00000254579:V572A;ENSP00000346716:V572A;ENSP00000436180:V572A	ENSP00000254579:V572A	V	+	2	0	DNHD1	6497838	0.269000	0.24143	0.750000	0.31169	0.017000	0.09413	0.687000	0.25407	0.119000	0.18210	-0.496000	0.04628	GTG	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384673.2		+	ENST00000527990.2	Missense_Mutation	SNP	11 : 6541262 - 6541262 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	742	128
PRODH	5625	broad.mit.edu	37	22	18910658	18910658	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18910658C>A	ENST00000357068.6	-	5	967	c.702G>T	c.(700-702)aaG>aaT	p.K234N	PRODH_ENST00000420436.1_Missense_Mutation_p.K126N|PRODH_ENST00000334029.2_Missense_Mutation_p.K126N	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	234					glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	GTGCTGTGAGCTTAATGGCTA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	106	105			NA	NA	22		NA											NA				18910658		2203	4300	6503	SO:0001583	missense			AF010310	CCDS13754.1, CCDS56223.1	22q11.2	2014-07-10	2001-12-05		ENSG00000100033	ENSG00000100033	5625	5625	1.5.5.2		9453	protein-coding gene	gene with protein product		606810	proline dehydrogenase (proline oxidase )		NA	9385373, 10192398	Standard	NM_016335	NM_001195226	NA	Approved	HSPOX2, PRODH1, PIG6, PRODH2, TP53I6	uc002zok.4	O43272	OTTHUMG00000150163	ENST00000357068.6:c.702G>T	22.37:g.18910658C>A	ENSP00000349577:p.Lys234Asn	NA	A6NF53|O14680|Q0P507|Q147W8|Q504W1|Q59FI8|Q6NV86|Q9UF13	37	CCDS13754.1	.	.	.	.	.	.	.	.	.	.	.	14.10	2.436079	0.43224	.	.	ENSG00000100033	ENST00000357068;ENST00000399694;ENST00000450579	T;T	0.54071	0.59;0.59	4.98	2.82	0.32997	Proline dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.71846	0.3388	M	0.90870	3.155	0.54753	D	0.999985	D;D;D	0.60160	0.971;0.987;0.987	P;D;D	0.65140	0.841;0.926;0.932	T	0.72312	-0.4331	10	0.87932	D	0	-63.2333	6.6797	0.23113	0.0:0.7574:0.0:0.2426	.	150;234;126	O43272-1;O43272;E7EQL6	.;PROD_HUMAN;.	N	234;27;75	ENSP00000349577:K234N;ENSP00000396806:K75N	ENSP00000334726:K126N	K	-	3	2	PRODH	17290658	0.998000	0.40836	1.000000	0.80357	0.145000	0.21501	0.497000	0.22514	0.589000	0.29677	0.550000	0.68814	AAG	PRODH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316637.2		-	ENST00000357068.6	Missense_Mutation	SNP	22 : 18910658 - 18910658 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	659	116
CSMD1	64478	broad.mit.edu	37	8	3253870	3253870	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:3253870C>T	ENST00000520002.1	-	18	2997	c.2442G>A	c.(2440-2442)gaG>gaA	p.E814E	CSMD1_ENST00000537824.1_Silent_p.E813E|CSMD1_ENST00000539096.1_Silent_p.E813E|CSMD1_ENST00000400186.3_Silent_p.E814E|CSMD1_ENST00000542608.1_Silent_p.E813E|CSMD1_ENST00000602557.1_Silent_p.E814E|CSMD1_ENST00000602723.1_Silent_p.E814E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	814	CUB 5.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CATCTCTGACCTCCAAGGTGT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4317		0,1,2158	49	63	58		2439	-6.3	0.1	8		58	0,8538		0,0,4269	no	coding-synonymous	CSMD1	NM_033225.5		0,1,6427	TT,TC,CC	NA	0.0,0.0232,0.0078		813/3565	3253870	1,12855	2159	4269	6428	SO:0001819	synonymous_variant					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117	64478	64478		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	14026	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 24	608397			NA		Standard	NM_033225	NM_033225	NA	Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2442G>A	8.37:g.3253870C>T		NA	Q0H0J5|Q96QU9|Q96RM4	37		.	.	.	.	.	.	.	.	.	.	C	0.448	-0.895059	0.02491	2.32E-4	0.0	ENSG00000183117	ENST00000335551	.	.	.	5.3	-6.3	0.02007	.	.	.	.	.	T	0.61615	0.2361	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63519	-0.6619	4	.	.	.	.	14.2824	0.66221	0.0:0.5879:0.0:0.4121	.	.	.	.	S	294	.	.	G	-	1	0	CSMD1	3241277	0.994000	0.37717	0.083000	0.20561	0.013000	0.08279	0.349000	0.20055	-1.647000	0.01511	-0.136000	0.14681	GGT	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000374500.2		-	ENST00000520002.1	Silent	SNP	8 : 3253870 - 3253870 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	66	14
DDX53	168400	broad.mit.edu	37	X	23020059	23020059	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:23020059T>G	ENST00000327968.5	+	1	1973	c.1885T>G	c.(1885-1887)Ttt>Gtt	p.F629V	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	629						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						GGAGTTTTATTTTTTAAGTTG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	23	22			NA	NA	X		NA											NA				23020059		2188	4261	6449	SO:0001583	missense			AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735	168400	168400		DEAD-boxes	20083	protein-coding gene	gene with protein product	cancer associated gene, cancer/testis antigen 26				NA		Standard	NM_182699	NM_182699	NA	Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.1885T>G	X.37:g.23020059T>G	ENSP00000368667:p.Phe629Val	NA	Q0D2N2|Q6NVV4	37	CCDS35214.1	.	.	.	.	.	.	.	.	.	.	T	10.29	1.308209	0.23821	.	.	ENSG00000184735	ENST00000327968	T	0.20200	2.09	4.59	-5.8	0.02347	.	3.946380	0.01749	U	0.029825	T	0.10680	0.0261	N	0.08118	0	0.09310	N	1	B	0.22800	0.075	B	0.16722	0.016	T	0.30679	-0.9970	10	0.62326	D	0.03	.	7.2613	0.26205	0.1135:0.4525:0.0:0.434	.	629	Q86TM3	DDX53_HUMAN	V	629	ENSP00000368667:F629V	ENSP00000368667:F629V	F	+	1	0	DDX53	22929980	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.032000	0.00637	-1.289000	0.02375	-1.381000	0.01174	TTT	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056043.1		+	ENST00000327968.5	Missense_Mutation	SNP	X : 23020059 - 23020059 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	145	37
TSPAN13	27075	broad.mit.edu	37	7	16818722	16818722	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:16818722T>C	ENST00000262067.4	+	5	954	c.521T>C	c.(520-522)cTg>cCg	p.L174P		NM_014399.3	NP_055214.1	O95857	TSN13_HUMAN	tetraspanin 13	174						integral to plasma membrane|membrane fraction				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		GGCATTGGCCTGTTCTTCAGT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	156	160			NA	NA	7		NA											NA				16818722		2203	4300	6503	SO:0001583	missense			AF100759	CCDS5363.1	7p21.2	2013-02-14	2005-03-21	2005-03-21	ENSG00000106537	ENSG00000106537	27075	27075		Tetraspanins	21643	protein-coding gene	gene with protein product		613139	transmembrane 4 superfamily member 13	TM4SF13	NA		Standard	NM_014399	NM_014399	NA	Approved	NET-6	uc003stq.3	O95857	OTTHUMG00000022968	ENST00000262067.4:c.521T>C	7.37:g.16818722T>C	ENSP00000262067:p.Leu174Pro	NA		37	CCDS5363.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.957719	0.73902	.	.	ENSG00000106537	ENST00000262067	D	0.82984	-1.67	5.75	4.58	0.56647	.	0.172861	0.52532	D	0.000066	D	0.90920	0.7146	M	0.86651	2.83	0.80722	D	1	D	0.63046	0.992	D	0.64321	0.924	D	0.91774	0.5430	10	0.87932	D	0	-10.9269	13.1148	0.59294	0.0:0.0:0.1338:0.8662	.	174	O95857	TSN13_HUMAN	P	174	ENSP00000262067:L174P	ENSP00000262067:L174P	L	+	2	0	TSPAN13	16785247	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	7.994000	0.88315	0.984000	0.38629	0.459000	0.35465	CTG	TSPAN13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250178.2		+	ENST00000262067.4	Missense_Mutation	SNP	7 : 16818722 - 16818722 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	275	60
TMEM174	134288	broad.mit.edu	37	5	72469182	72469182	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:72469182G>A	ENST00000296776.5	+	1	161	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	TMEM174_ENST00000511737.1_3'UTR	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	38						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		CAAGGCGGGGGCCACCTTGCT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	148	152			NA	NA	5		NA											NA				72469182		2203	4300	6503	SO:0001583	missense			BC019346	CCDS4018.1	5q13.2	2008-02-05			ENSG00000164325	ENSG00000164325	134288	134288			28187	protein-coding gene	gene with protein product		614909			NA	12477932	Standard	NM_153217	NM_153217	NA	Approved	MGC13034, FLJ31268	uc010izc.3	Q8WUU8	OTTHUMG00000131268	ENST00000296776.5:c.112G>A	5.37:g.72469182G>A	ENSP00000296776:p.Ala38Thr	NA	B2RDA0|Q96N81	37	CCDS4018.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844751	0.71603	.	.	ENSG00000164325	ENST00000296776	.	.	.	5.91	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.41880	0.1178	L	0.29908	0.895	0.44603	D	0.997579	P	0.41450	0.75	B	0.40677	0.337	T	0.30001	-0.9993	9	0.36615	T	0.2	-3.8862	11.5914	0.50947	0.1854:0.0:0.8146:0.0	.	38	Q8WUU8	TM174_HUMAN	T	38	.	ENSP00000296776:A38T	A	+	1	0	TMEM174	72504938	1.000000	0.71417	0.998000	0.56505	0.905000	0.53344	4.344000	0.59354	1.530000	0.49136	-0.119000	0.15052	GCC	TMEM174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254036.1		+	ENST00000296776.5	Missense_Mutation	SNP	5 : 72469182 - 72469182 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1286	98
PKHD1	5314	broad.mit.edu	37	6	51900516	51900516	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:51900516C>A	ENST00000371117.3	-	28	3376	c.3101G>T	c.(3100-3102)gGg>gTg	p.G1034V	PKHD1_ENST00000340994.4_Missense_Mutation_p.G1034V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1034	IPT/TIG 5.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGCCCAGAGCCCTCCTGTAAC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	73	72			NA	NA	6		NA											NA				51900516		2203	4300	6503	SO:0001583	missense			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927	5314	5314			9016	protein-coding gene	gene with protein product	tigmin, polyductin, fibrocystin	606702	TIG multiple domains 1	TIGM1	NA	9503014	Standard	NM_138694	NM_138694	NA	Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3101G>T	6.37:g.51900516C>A	ENSP00000360158:p.Gly1034Val	NA	Q5VUA2|Q5VUA3|Q5VWV1|Q8TCZ9	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173670	0.78452	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.86562	-2.14;-2.14	5.57	5.57	0.84162	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.157646	0.44483	D	0.000441	D	0.91392	0.7284	M	0.64997	1.995	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91938	0.5560	10	0.72032	D	0.01	.	16.6945	0.85332	0.0:1.0:0.0:0.0	.	1034;1034	P08F94-2;P08F94	.;PKHD1_HUMAN	V	1034	ENSP00000360158:G1034V;ENSP00000341097:G1034V	ENSP00000341097:G1034V	G	-	2	0	PKHD1	52008475	0.998000	0.40836	0.976000	0.42696	0.997000	0.91878	4.845000	0.62853	2.631000	0.89168	0.650000	0.86243	GGG	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040893.1		-	ENST00000371117.3	Missense_Mutation	SNP	6 : 51900516 - 51900516 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	62
TMX4	56255	broad.mit.edu	37	20	7962940	7962940	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:7962940G>T	ENST00000246024.2	-	8	1223	c.1008C>A	c.(1006-1008)tcC>tcA	p.S336S		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	336					cell redox homeostasis|electron transport chain|transport	integral to membrane				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						GCTGCCTCAAGGAGTCTTCCA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	81	83			NA	NA	20		NA											NA				7962940		2203	4300	6503	SO:0001819	synonymous_variant				CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827	56255	56255		Protein disulfide isomerases	25237	protein-coding gene	gene with protein product	protein disulfide isomerase family A, member 14		thioredoxin domain containing 13	TXNDC13	NA		Standard	NM_021156	NM_021156	NA	Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.1008C>A	20.37:g.7962940G>T		NA	Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	37	CCDS13101.1																																																																																			TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077928.2		-	ENST00000246024.2	Silent	SNP	20 : 7962940 - 7962940 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	381	76
BMPR1A	657	broad.mit.edu	37	10	88659555	88659555	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88659555C>A	ENST00000372037.3	+	6	875	c.338C>A	c.(337-339)tCt>tAt	p.S113Y		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	NA					BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						TTTTAGGATTCTCCAAAAGCC	0.353		NA	Mis, N, F			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(190;603 2086 22044 30335 47971)	yes	Rec		Juvenile polyposis	10	10q22.3	657	bone morphogenetic protein receptor, type IA		E	0													63	65	64			NA	NA	10		NA											NA				88659555		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	BC028383	CCDS7378.1	10q22.3	2014-09-17			ENSG00000107779	ENSG00000107779	657	657		CD molecules	1076	protein-coding gene	gene with protein product		601299		ACVRLK3	NA	8397373, 9730621	Standard	NM_004329	NM_004329	NA	Approved	ALK3, CD292	uc001kdy.3	P36894	OTTHUMG00000018657	ENST00000372037.3:c.338C>A	10.37:g.88659555C>A	ENSP00000361107:p.Ser113Tyr	NA	A8K6U9|Q8NEN8	37	CCDS7378.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.739875	0.69304	.	.	ENSG00000107779	ENST00000224764;ENST00000372037	D	0.90444	-2.67	5.2	5.2	0.72013	TGF-beta receptor/activin receptor, type I/II (1);	0.060693	0.64402	D	0.000002	D	0.93562	0.7945	M	0.62266	1.93	0.80722	D	1	D	0.55385	0.971	P	0.62491	0.903	D	0.92920	0.6354	10	0.42905	T	0.14	.	16.0145	0.80427	0.0:1.0:0.0:0.0	.	113	P36894	BMR1A_HUMAN	Y	113	ENSP00000361107:S113Y	ENSP00000224764:S113Y	S	+	2	0	BMPR1A	88649535	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	6.954000	0.76001	2.585000	0.87301	0.563000	0.77884	TCT	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049170.3		+	ENST00000372037.3	Missense_Mutation	SNP	10 : 88659555 - 88659555 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	310	60
LYST	1130	broad.mit.edu	37	1	235969949	235969949	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235969949C>A	ENST00000389794.3	-	6	2661	c.2487G>T	c.(2485-2487)gaG>gaT	p.E829D	LYST_ENST00000536965.1_Missense_Mutation_p.E829D|LYST_ENST00000389793.2_Missense_Mutation_p.E829D			Q99698	LYST_HUMAN	lysosomal trafficking regulator	829					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTTTCTGTTGCTCCCCTAGGC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													208	198	202			NA	NA	1		NA											NA				235969949		2203	4300	6503	SO:0001583	missense			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669	1130	1130		WD repeat domain containing	1968	protein-coding gene	gene with protein product		606897	Chediak-Higashi syndrome 1	CHS1	NA	8717042, 8896560	Standard		NM_000081	NA	Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.2487G>T	1.37:g.235969949C>A	ENSP00000374444:p.Glu829Asp	NA	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920571	0.33908	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.63744	-0.06;-0.06;1.09	5.44	-1.1	0.09872	.	0.686203	0.15663	N	0.250785	T	0.66567	0.2802	L	0.57536	1.79	0.30384	N	0.781676	D;B	0.76494	0.999;0.004	D;B	0.79784	0.993;0.006	T	0.60821	-0.7187	10	0.34782	T	0.22	.	3.4377	0.07452	0.1084:0.3777:0.1108:0.4031	.	829;829	Q99698-3;Q99698	.;LYST_HUMAN	D	829	ENSP00000374444:E829D;ENSP00000374443:E829D;ENSP00000438315:E829D	ENSP00000374443:E829D	E	-	3	2	LYST	234036572	0.003000	0.15002	0.994000	0.49952	0.993000	0.82548	-1.448000	0.02394	-0.148000	0.11234	-0.312000	0.09012	GAG	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097533.5		-	ENST00000389794.3	Missense_Mutation	SNP	1 : 235969949 - 235969949 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1270	284
HIVEP2	3097	broad.mit.edu	37	6	143074447	143074447	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143074447G>T	ENST00000367604.1	-	9	7777	c.7138C>A	c.(7138-7140)Ccc>Acc	p.P2380T	HIVEP2_ENST00000367603.2_Missense_Mutation_p.P2380T|HIVEP2_ENST00000012134.2_Missense_Mutation_p.P2380T|RP1-67K17.3_ENST00000437067.1_RNA			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GAGGTACAGGGCTGACCTGGC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(107;843 1510 13293 16805 42198)							NA				0													121	124	123			NA	NA	6		NA											NA				143074447		2068	4202	6270	SO:0001583	missense			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818	3097	3097		Zinc fingers, C2H2-type	4921	protein-coding gene	gene with protein product	c-myc intron binding protein 1	143054	human immunodeficiency virus type I enhancer-binding protein 2		NA	1733857, 2022670	Standard		NM_006734	NA	Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.7138C>A	6.37:g.143074447G>T	ENSP00000356576:p.Pro2380Thr	NA	Q02646|Q5THT5|Q9NS05	37	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	0.810	-0.752422	0.03041	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02177	4.41;4.41;4.41	5.78	3.89	0.44902	.	0.365525	0.29646	N	0.011573	T	0.00524	0.0017	N	0.08118	0	0.26332	N	0.977501	B	0.06786	0.001	B	0.04013	0.001	T	0.48822	-0.9001	10	0.24483	T	0.36	-9.7779	11.1307	0.48345	0.0:0.2168:0.5767:0.2064	.	2380	P31629	ZEP2_HUMAN	T	2380	ENSP00000356576:P2380T;ENSP00000356575:P2380T;ENSP00000012134:P2380T	ENSP00000012134:P2380T	P	-	1	0	HIVEP2	143116140	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	0.515000	0.22801	1.431000	0.47355	0.655000	0.94253	CCC	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042495.1		-	ENST00000367604.1	Missense_Mutation	SNP	6 : 143074447 - 143074447 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	721	124
FBXO40	51725	broad.mit.edu	37	3	121341856	121341856	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121341856C>T	ENST00000338040.4	+	3	1994	c.1580C>T	c.(1579-1581)cCc>cTc	p.P527L		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	527					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CATTTCCGTCCCCCAGGGCAA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	53	54			NA	NA	3		NA											NA				121341856		2203	4300	6503	SO:0001583	missense			AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833	51725	51725		F-boxes /  other	29816	protein-coding gene	gene with protein product		609107			NA	10574462	Standard	NM_016298	NM_016298	NA	Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.1580C>T	3.37:g.121341856C>T	ENSP00000337510:p.Pro527Leu	NA	B2RAX7|Q32M70|Q9ULM5	37	CCDS33835.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156510	0.78114	.	.	ENSG00000163833	ENST00000338040	T	0.55760	0.5	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.74558	0.3732	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76302	-0.3009	10	0.87932	D	0	-22.4823	17.913	0.88940	0.0:1.0:0.0:0.0	.	527	Q9UH90	FBX40_HUMAN	L	527	ENSP00000337510:P527L	ENSP00000337510:P527L	P	+	2	0	FBXO40	122824546	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.818000	0.86416	2.831000	0.97527	0.650000	0.86243	CCC	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355158.1		+	ENST00000338040.4	Missense_Mutation	SNP	3 : 121341856 - 121341856 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	276	50
UGT2A3	79799	broad.mit.edu	37	4	69796399	69796399	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69796399C>T	ENST00000251566.4	-	5	1199	c.1169G>A	c.(1168-1170)gGa>gAa	p.G390E	UGT2A3_ENST00000420231.2_Missense_Mutation_p.G101E	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	390						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TATGGGAACTCCCACCATAGG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	80	79			NA	NA	4		NA											NA				69796399		2203	4299	6502	SO:0001583	missense				CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220	79799	79799		UDP glucuronosyltransferases	28528	protein-coding gene	gene with protein product					NA		Standard	NM_024743	NM_024743	NA	Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1169G>A	4.37:g.69796399C>T	ENSP00000251566:p.Gly390Glu	NA	Q9H6S4	37	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.533671	0.27387	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.63580	-0.05;3.15	1.99	1.99	0.26369	.	0.060660	0.64402	D	0.000004	D	0.82403	0.5029	H	0.97291	3.975	0.35821	D	0.824608	D	0.89917	1.0	D	0.97110	1.0	D	0.83940	0.0311	10	0.54805	T	0.06	.	5.7269	0.18018	0.318:0.6819:0.0:0.0	.	390	Q6UWM9	UD2A3_HUMAN	E	390;101	ENSP00000251566:G390E;ENSP00000440115:G101E	ENSP00000251566:G390E	G	-	2	0	UGT2A3	69830988	0.959000	0.32827	0.429000	0.26710	0.147000	0.21601	2.751000	0.47508	1.094000	0.41399	0.491000	0.48974	GGA	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251564.1		-	ENST00000251566.4	Missense_Mutation	SNP	4 : 69796399 - 69796399 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	472	39
FAM9B	171483	broad.mit.edu	37	X	9000434	9000434	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:9000434T>C	ENST00000362066.3	-	2	420	c.232A>G	c.(232-234)Act>Gct	p.T78A	FAM9B_ENST00000327220.5_Missense_Mutation_p.T33A|FAM9B_ENST00000428477.1_Missense_Mutation_p.T33A			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	33						nucleus				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				TGCTCATCAGTTACATCTTCC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													252	208	223			NA	NA	X		NA											NA				9000434		2203	4300	6503	SO:0001583	missense				CCDS14132.1	Xp22.31	2014-02-17			ENSG00000177138	ENSG00000177138	171483	171483			18404	protein-coding gene	gene with protein product	testis expressed 39B	300478			NA	12213195, 21085121, 21998597, 22936694	Standard	NM_205849	XM_005274456	NA	Approved	TEX39B	uc011mhu.2	Q8IZU0	OTTHUMG00000021114	ENST00000362066.3:c.232A>G	X.37:g.9000434T>C	ENSP00000354770:p.Thr78Ala	NA	Q0IJ68	37		.	.	.	.	.	.	.	.	.	.	T	11.47	1.647061	0.29246	.	.	ENSG00000177138	ENST00000362066;ENST00000327220;ENST00000428477	.	.	.	0.225	0.225	0.15325	.	.	.	.	.	T	0.31295	0.0792	L	0.32530	0.975	0.09310	N	1	P;P	0.46578	0.88;0.88	P;P	0.50270	0.636;0.636	T	0.20472	-1.0274	7	0.20519	T	0.43	.	.	.	.	.	33;78	Q8IZU0;Q8N7Z8	FAM9B_HUMAN;.	A	78;33;33	.	ENSP00000318716:T33A	T	-	1	0	FAM9B	8960434	0.110000	0.22057	0.246000	0.24233	0.246000	0.25737	1.087000	0.30865	0.238000	0.21222	0.235000	0.17854	ACT	FAM9B-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000055703.1		-	ENST00000362066.3	Missense_Mutation	SNP	X : 9000434 - 9000434 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	828	232
MAP2	4133	broad.mit.edu	37	2	210559824	210559824	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:210559824C>T	ENST00000360351.4	+	7	3436	c.2930C>T	c.(2929-2931)gCc>gTc	p.A977V	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.A973V|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	977					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AAAGAACATGCCAAGAAAACT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(27;423 979 28787 29963)							NA				0													76	73	74			NA	NA	2		NA											NA				210559824		2203	4300	6503	SO:0001583	missense				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018	4133	4133		A-kinase anchor proteins	6839	protein-coding gene	gene with protein product		157130			NA	3103857, 7479905	Standard	NM_001039538	XM_005246554	NA	Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2930C>T	2.37:g.210559824C>T	ENSP00000353508:p.Ala977Val	NA	Q17S04|Q99975|Q99976	37	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.440411	0.25900	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.25579	1.79;1.79	5.79	3.0	0.34707	MAP2/Tau projection (1);	0.609412	0.15636	N	0.252128	T	0.17365	0.0417	L	0.36672	1.1	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.002;0.003	T	0.22730	-1.0208	10	0.34782	T	0.22	-1.6898	4.7164	0.12898	0.1255:0.6122:0.1215:0.1408	.	973;977	P11137-3;P11137	.;MAP2_HUMAN	V	977;973	ENSP00000353508:A977V;ENSP00000392164:A973V	ENSP00000353508:A977V	A	+	2	0	MAP2	210268069	0.009000	0.17119	0.042000	0.18584	0.780000	0.44128	0.870000	0.28010	0.361000	0.24292	-0.894000	0.02916	GCC	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256521.2		+	ENST00000360351.4	Missense_Mutation	SNP	2 : 210559824 - 210559824 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	494	97
EIF4G1	1981	broad.mit.edu	37	3	184042077	184042077	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184042077A>G	ENST00000392537.2	+	14	2547	c.2300A>G	c.(2299-2301)gAc>gGc	p.D767G	EIF4G1_ENST00000319274.6_Missense_Mutation_p.D854G|EIF4G1_ENST00000342981.4_Missense_Mutation_p.D855G|EIF4G1_ENST00000411531.1_Missense_Mutation_p.D815G|EIF4G1_ENST00000414031.1_Missense_Mutation_p.D814G|EIF4G1_ENST00000346169.2_Missense_Mutation_p.D854G|EIF4G1_ENST00000427845.1_Missense_Mutation_p.D768G|EIF4G1_ENST00000441154.1_Missense_Mutation_p.D691G|EIF4G1_ENST00000350481.5_Missense_Mutation_p.D690G|EIF4G1_ENST00000424196.1_Missense_Mutation_p.D861G|EIF4G1_ENST00000435046.2_Missense_Mutation_p.D658G|EIF4G1_ENST00000434061.2_Missense_Mutation_p.D659G|EIF4G1_ENST00000352767.3_Missense_Mutation_p.D861G|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000382330.3_Missense_Mutation_p.D861G	NM_198244.2	NP_937887	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	854	MIF4G.|eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTTGAGAAAGACAAAGATGAT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	150	152			NA	NA	3		NA											NA				184042077		2203	4300	6503	SO:0001583	missense			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867	1981	1981		Parkinson disease	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F	NA	1429670, 9372926, 21907011	Standard	NM_182917	NM_182917	NA	Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000392537.2:c.2300A>G	3.37:g.184042077A>G	ENSP00000376320:p.Asp767Gly	NA	D3DNT4|D3DNT5|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	37	CCDS3260.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.492538	0.84962	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99	5.71	5.71	0.89125	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.042620	0.85682	D	0.000000	T	0.30510	0.0767	N	0.26130	0.795	0.80722	D	1	D;D;D;D	0.89917	1.0;0.988;0.988;0.994	D;D;D;D	0.81914	0.995;0.947;0.934;0.971	T	0.03651	-1.1016	10	0.08381	T	0.77	-19.4074	16.3019	0.82825	1.0:0.0:0.0:0.0	.	861;855;854;861	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	G	854;814;767;862;861;795;690;861;768;855;854;861;815;690;691;659;658	ENSP00000316879:D854G;ENSP00000391935:D814G;ENSP00000376320:D767G;ENSP00000413159:D862G;ENSP00000371767:D861G;ENSP00000403269:D795G;ENSP00000317600:D690G;ENSP00000338020:D861G;ENSP00000407682:D768G;ENSP00000343450:D855G;ENSP00000323737:D854G;ENSP00000416255:D861G;ENSP00000395974:D815G;ENSP00000398145:D690G;ENSP00000399858:D691G;ENSP00000411826:D659G;ENSP00000404754:D658G	ENSP00000323737:D854G	D	+	2	0	EIF4G1	185524771	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.297000	0.96120	2.317000	0.78254	0.459000	0.35465	GAC	EIF4G1-003	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345729.2		+	ENST00000392537.2	Missense_Mutation	SNP	3 : 184042077 - 184042077 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	624	96
WDR33	55339	broad.mit.edu	37	2	128495607	128495607	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128495607C>T	ENST00000393006.1	-	8	928	c.746G>A	c.(745-747)cGt>cAt	p.R249H	WDR33_ENST00000322313.4_Intron	NM_001006623.2	NP_001006624.1	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	0					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GAAGTAACAACGGCAGTGATG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG,	1,3803		0,1,1901	97	90	92		746,	-3.1	0	2		92	0,8240		0,0,4120	no	missense,intron	WDR33	NM_001006623.2,NM_018383.4	29,	0,1,6021	TT,TC,CC	NA	0.0,0.0263,0.0083	,	249/258,	128495607	1,12043	1902	4120	6022	SO:0001583	missense				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709	55339	55339		WD repeat domain containing	25651	protein-coding gene	gene with protein product					NA	11162572	Standard	NM_018383	NM_001006622	NA	Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000393006.1:c.746G>A	2.37:g.128495607C>T	ENSP00000376730:p.Arg249His	NA	Q05DP8|Q53FG9|Q587J1|Q9NUL1	37	CCDS42746.1	.	.	.	.	.	.	.	.	.	.	C	5.534	0.283451	0.10458	2.63E-4	0.0	ENSG00000136709	ENST00000393006	T	0.72942	-0.7	2.66	-3.13	0.05266	.	.	.	.	.	T	0.52354	0.1729	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38693	-0.9649	8	0.52906	T	0.07	.	4.0484	0.09783	0.0:0.4211:0.217:0.3619	.	249	Q6NUQ0	.	H	249	ENSP00000376730:R249H	ENSP00000376730:R249H	R	-	2	0	WDR33	128212077	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	-0.140000	0.10342	-0.657000	0.05373	-0.351000	0.07748	CGT	WDR33-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331143.1		-	ENST00000393006.1	Missense_Mutation	SNP	2 : 128495607 - 128495607 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	272	60
SNX17	9784	broad.mit.edu	37	2	27598482	27598482	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27598482G>A	ENST00000233575.2	+	10	1106	c.884G>A	c.(883-885)aGt>aAt	p.S295N	SNX17_ENST00000537606.1_Missense_Mutation_p.S270N|SNX17_ENST00000543024.1_Missense_Mutation_p.S81N|SNX17_ENST00000542478.1_Missense_Mutation_p.S81N	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	295					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGGGCAACAGTGAGCTCAGC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	72	73			NA	NA	2		NA											NA				27598482		2203	4300	6503	SO:0001583	missense			D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234	9784	9784		Sorting nexins	14979	protein-coding gene	gene with protein product		605963			NA	12169628, 15769472	Standard	NM_014748	NM_014748	NA	Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.884G>A	2.37:g.27598482G>A	ENSP00000233575:p.Ser295Asn	NA	Q53HN7|Q6IAS3	37	CCDS1750.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307244	0.23821	.	.	ENSG00000115234	ENST00000233575;ENST00000543024;ENST00000537606;ENST00000542478	T;T;T;T	0.28069	2.05;1.69;1.63;1.69	5.84	4.91	0.64330	.	0.077057	0.85682	D	0.000000	T	0.04452	0.0122	N	0.00062	-2.325	0.45390	D	0.998378	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.43669	-0.9377	10	0.05436	T	0.98	-6.7693	5.6777	0.17757	0.1522:0.1736:0.6742:0.0	.	270;283;275;295	B4DQM7;B4DTB8;B4DQ37;Q15036	.;.;.;SNX17_HUMAN	N	295;81;270;81	ENSP00000233575:S295N;ENSP00000441779:S81N;ENSP00000439208:S270N;ENSP00000442567:S81N	ENSP00000233575:S295N	S	+	2	0	SNX17	27451986	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	4.715000	0.61909	2.768000	0.95171	0.561000	0.74099	AGT	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000215024.1		+	ENST00000233575.2	Missense_Mutation	SNP	2 : 27598482 - 27598482 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	650	121
ZNF628	89887	broad.mit.edu	37	19	55994231	55994231	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55994231C>T	ENST00000598519.1	+	3	2224	c.1671C>T	c.(1669-1671)cgC>cgT	p.R557R	ZNF628_ENST00000391718.2_Silent_p.R553R			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	553						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		GTCGCCACCGCCACGTGCACA	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	24	23			NA	NA	19		NA											NA				55994231		2201	4296	6497	SO:0001819	synonymous_variant			AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483	89887	89887		Zinc fingers, C2H2-type	28054	protein-coding gene	gene with protein product	Zinc finger expressed in Embryonal cells and Certain adult organs	610671			NA		Standard	XM_058964	NM_033113	NA	Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.1671C>T	19.37:g.55994231C>T		NA	Q86X34	37	CCDS33116.3																																																																																			ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317934.2		+	ENST00000598519.1	Silent	SNP	19 : 55994231 - 55994231 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	249	47
KDM4B	23030	broad.mit.edu	37	19	5047658	5047658	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5047658C>T	ENST00000159111.4	+	6	822	c.604C>T	c.(604-606)Cac>Tac	p.H202Y	KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000381759.4_Missense_Mutation_p.H202Y|KDM4B_ENST00000536461.1_Missense_Mutation_p.H202Y	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	202	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CAACTACCTGCACTTTGGGGA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													238	162	188			NA	NA	19		NA											NA				5047658		2203	4300	6503	SO:0001583	missense			AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663	23030	23030		Chromatin-modifying enzymes / K-demethylases, Tudor domain containing	29136	protein-coding gene	gene with protein product	tudor domain containing 14B	609765	jumonji domain containing 2B	JMJD2B	NA	10048485, 15138608	Standard	NM_015015	NM_015015	NA	Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.604C>T	19.37:g.5047658C>T	ENSP00000159111:p.His202Tyr	NA	B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	37	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960249	0.92791	.	.	ENSG00000127663	ENST00000159111;ENST00000381759;ENST00000536461	T;T;T	0.71817	-0.6;-0.6;-0.6	4.32	4.32	0.51571	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.88407	0.6428	H	0.94423	3.535	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92139	0.5719	10	0.87932	D	0	-45.6557	16.9672	0.86290	0.0:1.0:0.0:0.0	.	202;202;202	F5GX28;O94953-2;O94953	.;.;KDM4B_HUMAN	Y	202	ENSP00000159111:H202Y;ENSP00000371178:H202Y;ENSP00000440495:H202Y	ENSP00000159111:H202Y	H	+	1	0	KDM4B	4998658	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.564000	0.82326	2.223000	0.72356	0.655000	0.94253	CAC	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450558.1		+	ENST00000159111.4	Missense_Mutation	SNP	19 : 5047658 - 5047658 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	654	106
NACA	4666	broad.mit.edu	37	12	57110723	57110723	+	Missense_Mutation	SNP	C	C	A	rs61937760		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57110723C>A	ENST00000550952.1	-	5	1903				NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000454682.1_Missense_Mutation_p.A1531S|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron			Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	NA					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AGAAGAGTCGCTGTTGGGGCA	0.582		NA	T	BCL6	NHL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0													41	46	44			NA	NA	12		NA											NA				57110723		1541	3532	5073	SO:0001627	intron_variant			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531	4666	4666			7629	protein-coding gene	gene with protein product		601234	nascent-polypeptide-associated complex alpha polypeptide		NA	8047162	Standard	NM_005594	NM_001113202	NA	Approved	NACA1	uc001sma.2	E9PAV3		ENST00000550952.1:c.1865-733G>T	12.37:g.57110723C>A		NA	Q3KQV4|Q53A18|Q53G46	37	CCDS44925.2	.	.	.	.	.	.	.	.	.	.	C	4.474	0.087945	0.08583	.	.	ENSG00000196531	ENST00000454682	T	0.47869	0.83	2.83	1.55	0.23275	.	.	.	.	.	T	0.25005	0.0607	.	.	.	0.09310	N	1	B	0.27192	0.171	B	0.14023	0.01	T	0.15321	-1.0441	7	.	.	.	.	3.2622	0.06853	0.2245:0.5707:0.0:0.2048	.	1531	E9PAV3	.	S	1531	ENSP00000403817:A1531S	.	A	-	1	0	NACA	55396990	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-1.017000	0.03630	0.058000	0.16222	0.298000	0.19748	GCG	NACA-004	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407275.1		-	ENST00000550952.1	Intron	SNP	12 : 57110723 - 57110723 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	327	85
LDLRAP1	26119	broad.mit.edu	37	1	25880492	25880492	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25880492G>A	ENST00000374338.4	+	2	287	c.168G>A	c.(166-168)acG>acA	p.T56T	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	56	PID.				amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGCATGACGCTAGTGGAGC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	64	68			NA	NA	1		NA											NA				25880492		2203	4300	6503	SO:0001819	synonymous_variant			BC029770	CCDS30639.1	1p36-p35	2014-09-17			ENSG00000157978	ENSG00000157978	26119	26119			18640	protein-coding gene	gene with protein product		605747			NA		Standard	NM_015627	NM_015627	NA	Approved	ARH, ARH2, FHCB1, FHCB2, MGC34705, DKFZp586D0624	uc001bkl.4	Q5SW96	OTTHUMG00000007386	ENST00000374338.4:c.168G>A	1.37:g.25880492G>A		NA	A2BHI5|Q6TQS9|Q8N2Y0|Q9UFI9	37	CCDS30639.1																																																																																			LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019350.3		+	ENST00000374338.4	Silent	SNP	1 : 25880492 - 25880492 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	34
MACF1	23499	broad.mit.edu	37	1	39950279	39950279	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39950279C>T	ENST00000372915.3	+	96	21874	c.21787C>T	c.(21787-21789)Cca>Tca	p.P7263S	MACF1_ENST00000317713.7_Missense_Mutation_p.P5305S|MACF1_ENST00000545844.1_Missense_Mutation_p.P5305S|MACF1_ENST00000361689.2_Missense_Mutation_p.P5305S|MACF1_ENST00000289893.4_Missense_Mutation_p.P5813S|MACF1_ENST00000567887.1_Missense_Mutation_p.P7467S|MACF1_ENST00000539005.1_Missense_Mutation_p.P5175S|MACF1_ENST00000564288.1_Missense_Mutation_p.P7430S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7263	C-terminal tail (By similarity).|Ser-rich.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TAAGGTTATCCCATCATCAGG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	93	91			NA	NA	1		NA											NA				39950279		2203	4300	6503	SO:0001583	missense			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603	23499	23499		EF-hand domain containing	13664	protein-coding gene	gene with protein product	actin cross-linking factor, 620 kDa actin binding protein, macrophin 1, trabeculin-alpha, actin cross-linking family protein 7	608271			NA	7635207, 10529403	Standard	NM_033044	NM_012090	NA	Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.21787C>T	1.37:g.39950279C>T	ENSP00000362006:p.Pro7263Ser	NA	E9PJT0|O75053|Q5VW20|Q8WXY2|Q9H540|Q9UKP0|Q9ULG9	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.651|8.651	0.898360|0.898360	0.17686|0.17686	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925;ENST00000446276|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000539218	.|T;T;T;T;T;T	.|0.67171	.|-0.22;-0.11;-0.22;-0.25;-0.07;0.95	6.03|6.03	0.848|0.848	0.18966|0.18966	.|.	0.326671|0.326671	0.26915|0.26915	N|N	0.021858|0.021858	T|T	0.57315|0.57315	0.2045|0.2045	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B;B	.|0.20261	.|0.005;0.0;0.0;0.043;0.043;0.002	.|B;B;B;B;B;B	.|0.17433	.|0.009;0.001;0.001;0.018;0.014;0.011	T|T	0.44513|0.44513	-0.9323|-0.9323	6|9	.|.	.|.	.|.	.|.	8.3126|8.3126	0.32080|0.32080	0.0:0.6324:0.1095:0.2581|0.0:0.6324:0.1095:0.2581	.|.	.|7263;5305;4308;133;5813;242	.|Q9UPN3;F8W8Q1;B1ALC4;Q9H8U2;Q96PK2;B1ANQ7	.|MACF1_HUMAN;.;.;.;MACF4_HUMAN;.	L|S	4308;329|5305;7263;5305;5305;5175;5813;219	.|ENSP00000439537:P5305S;ENSP00000362006:P7263S;ENSP00000354573:P5305S;ENSP00000313438:P5305S;ENSP00000444364:P5175S;ENSP00000289893:P5813S	.|.	P|P	+|+	2|1	0|0	MACF1|MACF1	39722866|39722866	0.708000|0.708000	0.27876|0.27876	0.960000|0.960000	0.40013|0.40013	0.750000|0.750000	0.42670|0.42670	1.005000|1.005000	0.29834|0.29834	-0.058000|-0.058000	0.13177|0.13177	-0.797000|-0.797000	0.03246|0.03246	CCC|CCA	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000392096.1		+	ENST00000372915.3	Missense_Mutation	SNP	1 : 39950279 - 39950279 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	465	42
ALKBH2	121642	broad.mit.edu	37	12	109530459	109530459	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109530459C>T	ENST00000440112.2	-	1	135	c.133G>A	c.(133-135)Gcc>Acc	p.A45T	ALKBH2_ENST00000429722.2_Missense_Mutation_p.A45T|ALKBH2_ENST00000343075.3_Missense_Mutation_p.A45T	NM_001205179.1|NM_001205180.1	NP_001192108.1|NP_001192109.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	45					DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	TTCCCTGGGGCCTCTCTCCTG	0.597		NA						Direct reversal of damage						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	149	145			NA	NA	12		NA											NA				109530459		2203	4300	6503	SO:0001583	missense			AY754389	CCDS31897.1, CCDS55883.1	12q24.11	2008-04-24			ENSG00000189046	ENSG00000189046	121642	121642		Alkylation repair homologs	32487	protein-coding gene	gene with protein product		610602			NA		Standard	NM_001001655	NM_001145374	NA	Approved	MGC90512, ABH2	uc010sxj.1	Q6NS38	OTTHUMG00000169246	ENST00000440112.2:c.133G>A	12.37:g.109530459C>T	ENSP00000399820:p.Ala45Thr	NA	Q5XLE3	37	CCDS55883.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.433944	0.43224	.	.	ENSG00000189046	ENST00000429722;ENST00000343075;ENST00000435370;ENST00000440112;ENST00000540305;ENST00000536242;ENST00000536358	T;T	0.22134	1.97;1.97	5.76	-11.5	0.00074	.	3.538250	0.00508	N	0.000171	T	0.09024	0.0223	N	0.08118	0	0.09310	N	1	B;B	0.16603	0.018;0.001	B;B	0.10450	0.005;0.0	T	0.15150	-1.0447	10	0.09338	T	0.73	-0.7051	13.3487	0.60589	0.0:0.5201:0.3529:0.127	.	45;45	A4PET2;Q6NS38	.;ALKB2_HUMAN	T	45	ENSP00000398181:A45T;ENSP00000343021:A45T	ENSP00000343021:A45T	A	-	1	0	ALKBH2	108014842	0.000000	0.05858	0.000000	0.03702	0.432000	0.31715	-1.292000	0.02772	-3.112000	0.00241	-0.471000	0.05019	GCC	ALKBH2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403061.1		-	ENST00000440112.2	Missense_Mutation	SNP	12 : 109530459 - 109530459 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	943	173
MCCC1	56922	broad.mit.edu	37	3	182755097	182755097	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:182755097C>A	ENST00000492597.1	-	12	1878	c.1176G>T	c.(1174-1176)aaG>aaT	p.K392N	MCCC1_ENST00000489909.1_5'UTR|MCCC1_ENST00000539926.1_Missense_Mutation_p.K366N|MCCC1_ENST00000265594.4_Missense_Mutation_p.K501N			Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	501	Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	TGGCTGCAGCCTTCCGACTGA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	111	116			NA	NA	3		NA											NA				182755097		2203	4300	6503	SO:0001583	missense			AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	56922	56922	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)		NA	11170888	Standard	NM_020166	XR_241502	NA	Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000492597.1:c.1176G>T	3.37:g.182755097C>A	ENSP00000419898:p.Lys392Asn	NA	Q59ES4|Q9H959|Q9NS97	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.767|4.767	0.142627|0.142627	0.09083|0.09083	.|.	.|.	ENSG00000078070|ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000392616;ENST00000539926;ENST00000476176|ENST00000448585	D;D;D;D|.	0.95622|.	-3.76;-3.7;-3.58;-3.52|.	5.93|5.93	0.553|0.553	0.17235|0.17235	.|.	0.499217|.	0.25487|.	N|.	0.030329|.	T|T	0.36276|0.36276	0.0961|0.0961	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	B;B;B|.	0.30584|.	0.259;0.164;0.286|.	B;B;B|.	0.27608|.	0.081;0.052;0.067|.	T|T	0.36744|0.36744	-0.9735|-0.9735	10|6	0.22109|0.51188	T|T	0.4|0.08	.|.	1.9389|1.9389	0.03342|0.03342	0.1317:0.4086:0.1216:0.3381|0.1317:0.4086:0.1216:0.3381	.|.	454;392;501|.	E9PG35;E9PHF7;Q96RQ3|.	.;.;MCCA_HUMAN|.	N|M	501;392;351;366;454|454	ENSP00000265594:K501N;ENSP00000419898:K392N;ENSP00000441253:K366N;ENSP00000420433:K454N|.	ENSP00000265594:K501N|ENSP00000407708:R454M	K|R	-|-	3|2	2|0	MCCC1|MCCC1	184237791|184237791	0.001000|0.001000	0.12720|0.12720	0.209000|0.209000	0.23619|0.23619	0.199000|0.199000	0.23934|0.23934	0.283000|0.283000	0.18846|0.18846	0.398000|0.398000	0.25338|0.25338	0.561000|0.561000	0.74099|0.74099	AAG|AGG	MCCC1-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000350776.2		-	ENST00000492597.1	Missense_Mutation	SNP	3 : 182755097 - 182755097 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	342	89
TEX2	55852	broad.mit.edu	37	17	62290429	62290429	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62290429T>G	ENST00000258991.3	-	2	1233	c.1149A>C	c.(1147-1149)aaA>aaC	p.K383N	TEX2_ENST00000584379.1_Missense_Mutation_p.K383N|TEX2_ENST00000583097.1_Missense_Mutation_p.K383N			Q8IWB9	TEX2_HUMAN	testis expressed 2	383					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CCTGGGAACTTTTCAGTTCTA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	66	65			NA	NA	17		NA											NA				62290429		2203	4300	6503	SO:0001583	missense			AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478	55852	55852			30884	protein-coding gene	gene with protein product	transmembrane protein 96		testis expressed sequence 2		NA	11214970	Standard	NM_018469	XM_005257507	NA	Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000258991.3:c.1149A>C	17.37:g.62290429T>G	ENSP00000258991:p.Lys383Asn	NA	Q6AHZ5|Q8N3L0|Q9C0C5	37	CCDS11658.1	.	.	.	.	.	.	.	.	.	.	T	1.019	-0.685572	0.03328	.	.	ENSG00000136478	ENST00000258991	T	0.47528	0.84	6.17	-6.78	0.01721	.	0.567277	0.19790	N	0.106011	T	0.29556	0.0737	N	0.22421	0.69	0.09310	N	1	B;B	0.28605	0.217;0.138	B;B	0.26094	0.066;0.03	T	0.01945	-1.1242	10	0.42905	T	0.14	-7.3674	17.5523	0.87880	0.0:0.6324:0.0:0.3676	.	383;383	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	N	383	ENSP00000258991:K383N	ENSP00000258991:K383N	K	-	3	2	TEX2	59644161	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.499000	0.06413	-1.204000	0.02648	-0.274000	0.10170	AAA	TEX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443743.1		-	ENST00000258991.3	Missense_Mutation	SNP	17 : 62290429 - 62290429 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	555	94
EFCAB6	64800	broad.mit.edu	37	22	44028018	44028018	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44028018C>A	ENST00000262726.7	-	19	2452	c.2199G>T	c.(2197-2199)aaG>aaT	p.K733N	EFCAB6_ENST00000396231.2_Missense_Mutation_p.K581N	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	733					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TAGGGAAAAGCTTCAGGCATT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	115	114			NA	NA	22		NA											NA				44028018		2203	4300	6503	SO:0001583	missense			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976	64800	64800		EF-hand domain containing	24204	protein-coding gene	gene with protein product					NA	11258795, 12612053	Standard	NM_022785	NM_022785	NA	Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.2199G>T	22.37:g.44028018C>A	ENSP00000262726:p.Lys733Asn	NA	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	37	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.457970	0.26161	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.15139	2.45;2.45	4.61	-7.35	0.01422	EF-hand-like domain (1);	0.966024	0.08569	N	0.926282	T	0.16257	0.0391	L	0.36672	1.1	0.09310	N	1	P;P	0.48016	0.904;0.698	P;B	0.48227	0.571;0.201	T	0.06789	-1.0807	10	0.18276	T	0.48	-4.4141	15.3777	0.74625	0.0:0.7746:0.0:0.2254	.	581;733	Q5THR3-2;Q5THR3	.;EFCB6_HUMAN	N	581;733	ENSP00000379533:K581N;ENSP00000262726:K733N	ENSP00000262726:K733N	K	-	3	2	EFCAB6	42359351	0.000000	0.05858	0.000000	0.03702	0.553000	0.35397	-1.587000	0.02108	-1.767000	0.01300	-0.302000	0.09304	AAG	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353176.1		-	ENST00000262726.7	Missense_Mutation	SNP	22 : 44028018 - 44028018 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	751	135
CD209	30835	broad.mit.edu	37	19	7810795	7810795	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7810795C>T	ENST00000315599.7	-	4	379	c.357G>A	c.(355-357)aaG>aaA	p.K119K	CD209_ENST00000354397.6_Silent_p.K119K|CD209_ENST00000593821.1_Silent_p.K75K|CD209_ENST00000301357.8_Silent_p.K75K|CD209_ENST00000204801.8_Silent_p.K75K|CD209_ENST00000315591.8_Silent_p.K95K|CD209_ENST00000601256.1_Silent_p.K95K|CD209_ENST00000601951.1_Silent_p.K95K|CD209_ENST00000394161.5_Intron|CD209_ENST00000602261.1_Silent_p.K119K|CD209_ENST00000394173.4_Intron|CD209_ENST00000593660.1_Silent_p.K95K	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	119	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCTCCTGCAGCTTAGATTTCT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	101	100			NA	NA	19		NA											NA				7810795		2203	4298	6501	SO:0001819	synonymous_variant			M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659	30835	30835		C-type lectin domain containing, CD molecules	1641	protein-coding gene	gene with protein product		604672	CD209 antigen		NA	1518869	Standard	NM_021155	NM_021155	NA	Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.357G>A	19.37:g.7810795C>T		NA	A8KAM4|A8MVQ9|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	37	CCDS12186.1																																																																																			CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462241.1		-	ENST00000315599.7	Silent	SNP	19 : 7810795 - 7810795 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	987	47
RNF31	55072	broad.mit.edu	37	14	24617572	24617572	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24617572G>A	ENST00000324103.6	+	3	765	c.445G>A	c.(445-447)Gtc>Atc	p.V149I	RNF31_ENST00000559275.1_5'UTR|RNF31_ENST00000557878.1_3'UTR	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	149	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GGTTGCTACAGTCACACTGGA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	66	64			NA	NA	14		NA											NA				24617572		2100	4215	6315	SO:0001583	missense			AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098	55072	55072		RING-type (C3HC4) zinc fingers	16031	protein-coding gene	gene with protein product	HOIL-1-interacting protein	612487			NA	10422847	Standard	NM_017999	NM_017999	NA	Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.445G>A	14.37:g.24617572G>A	ENSP00000315112:p.Val149Ile	NA	Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	37	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220579	0.79464	.	.	ENSG00000092098	ENST00000324103	T	0.55588	0.51	5.31	5.31	0.75309	PUB domain (1);	0.000000	0.64402	D	0.000001	T	0.49474	0.1559	L	0.50333	1.59	0.80722	D	1	B	0.24186	0.099	B	0.31614	0.133	T	0.47812	-0.9088	10	0.49607	T	0.09	-20.5992	11.9072	0.52719	0.0827:0.0:0.9173:0.0	.	149	Q96EP0	RNF31_HUMAN	I	149	ENSP00000315112:V149I	ENSP00000315112:V149I	V	+	1	0	RNF31	23687412	1.000000	0.71417	0.957000	0.39632	0.995000	0.86356	6.548000	0.73896	2.779000	0.95612	0.655000	0.94253	GTC	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071921.3		+	ENST00000324103.6	Missense_Mutation	SNP	14 : 24617572 - 24617572 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	177	36
UBP1	7342	broad.mit.edu	37	3	33453162	33453162	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33453162C>A	ENST00000283629.3	-	5	995	c.466G>T	c.(466-468)Gga>Tga	p.G156*	UBP1_ENST00000447368.2_Nonsense_Mutation_p.G156*|UBP1_ENST00000283628.5_Nonsense_Mutation_p.G156*	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	156					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TCAATTATTCCCACAGACATT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	122	123			NA	NA	3		NA											NA				33453162		2203	4300	6503	SO:0001587	stop_gained			AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560	7342	7342			12507	protein-coding gene	gene with protein product		609784			NA	8114710	Standard	NM_014517	NM_014517	NA	Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.466G>T	3.37:g.33453162C>A	ENSP00000283629:p.Gly156*	NA	Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	37	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	C	41	9.064091	0.99053	.	.	ENSG00000153560	ENST00000283629;ENST00000447368;ENST00000283628	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.8616	20.547	0.99278	0.0:1.0:0.0:0.0	.	.	.	.	X	156	.	ENSP00000283628:G156X	G	-	1	0	UBP1	33428166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.850000	0.98022	0.650000	0.86243	GGA	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253249.2		-	ENST00000283629.3	Nonsense_Mutation	SNP	3 : 33453162 - 33453162 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	622	100
SIPA1L3	23094	broad.mit.edu	37	19	38600883	38600883	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38600883A>G	ENST00000222345.6	+	8	2659	c.2150A>G	c.(2149-2151)cAc>cGc	p.H717R		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	717	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGGAAGAGGCACATAGGAAAT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													187	146	160			NA	NA	19		NA											NA				38600883		2203	4300	6503	SO:0001583	missense			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738	23094	23094			23801	protein-coding gene	gene with protein product					NA		Standard	XM_032278	XM_005258671	NA	Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2150A>G	19.37:g.38600883A>G	ENSP00000222345:p.His717Arg	NA	Q2TV87	37	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.329061	0.81690	.	.	ENSG00000105738	ENST00000222345	D	0.97138	-4.26	5.22	5.22	0.72569	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.99077	0.9683	H	0.98542	4.26	0.58432	D	0.999996	P	0.52061	0.95	D	0.71870	0.975	D	0.98988	1.0807	10	0.87932	D	0	-37.7634	14.0811	0.64922	1.0:0.0:0.0:0.0	.	717	O60292	SI1L3_HUMAN	R	717	ENSP00000222345:H717R	ENSP00000222345:H717R	H	+	2	0	SIPA1L3	43292723	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	9.339000	0.96797	1.991000	0.58162	0.454000	0.30748	CAC	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000156294.2		+	ENST00000222345.6	Missense_Mutation	SNP	19 : 38600883 - 38600883 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	624	26
EIF4H	7458	broad.mit.edu	37	7	73609630	73609630	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73609630C>T	ENST00000265753.8	+	7	878	c.739C>T	c.(739-741)Caa>Taa	p.Q247*	EIF4H_ENST00000353999.6_Nonsense_Mutation_p.Q227*	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	247					interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			endometrium(1)|lung(2)|prostate(1)	4						TCAAAAGGAGCAAGAATGAGC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	34	35			NA	NA	7		NA											NA				73609630		2203	4300	6503	SO:0001587	stop_gained				CCDS5564.1, CCDS5565.1	7q11.23	2013-02-12	2006-11-27	2006-11-27	ENSG00000106682	ENSG00000106682	7458	7458		RNA binding motif (RRM) containing	12741	protein-coding gene	gene with protein product		603431	Williams-Beuren syndrome chromosome region 1	WBSCR1	NA	9516461, 15078951	Standard	NM_022170	NM_022170	NA	Approved	WSCR1, KIAA0038	uc003uad.1	Q15056	OTTHUMG00000023025	ENST00000265753.8:c.739C>T	7.37:g.73609630C>T	ENSP00000265753:p.Gln247*	NA	A8K3R1|D3DXF6|D3DXF8	37	CCDS5564.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516283	0.85495	.	.	ENSG00000106682	ENST00000265753;ENST00000353999	.	.	.	4.49	4.49	0.54785	.	0.249975	0.33199	N	0.005166	.	.	.	.	.	.	0.31653	N	0.646531	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-6.0173	11.1794	0.48618	0.1841:0.8159:0.0:0.0	.	.	.	.	X	247;227	.	ENSP00000265753:Q247X	Q	+	1	0	EIF4H	73247566	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	3.312000	0.51927	2.321000	0.78463	0.563000	0.77884	CAA	EIF4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252375.2		+	ENST00000265753.8	Nonsense_Mutation	SNP	7 : 73609630 - 73609630 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	273	44
KIF17	57576	broad.mit.edu	37	1	21031182	21031182	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21031182C>T	ENST00000247986.2	-	5	1191	c.881G>A	c.(880-882)cGg>cAg	p.R294Q	KIF17_ENST00000400463.3_Missense_Mutation_p.R294Q|KIF17_ENST00000375044.1_Missense_Mutation_p.R194Q			Q9P2E2	KIF17_HUMAN	kinesin family member 17	294					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CTGCAGCAGCCGCGTCAGCTT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	83	86			NA	NA	1		NA											NA				21031182		2203	4300	6503	SO:0001583	missense			AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245	57576	57576		Kinesins	19167	protein-coding gene	gene with protein product	kinesin-like protein KIF17, KIF3-related motor protein, KIF17 variant protein	605037			NA	10846156	Standard	NM_020816	XR_241202	NA	Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.881G>A	1.37:g.21031182C>T	ENSP00000247986:p.Arg294Gln	NA	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	37	CCDS213.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010521	0.93346	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.77098	-1.07;-1.07;-1.07	5.11	5.11	0.69529	Kinesin, motor domain (4);	0.000000	0.29638	U	0.011585	D	0.87657	0.6232	M	0.82923	2.615	0.51767	D	0.999938	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.982	D	0.88744	0.3245	10	0.87932	D	0	.	11.3633	0.49657	0.0:0.9066:0.0:0.0934	.	294;294	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	Q	194;294;294	ENSP00000364184:R194Q;ENSP00000383311:R294Q;ENSP00000247986:R294Q	ENSP00000247986:R294Q	R	-	2	0	KIF17	20903769	1.000000	0.71417	0.980000	0.43619	0.963000	0.63663	4.925000	0.63425	2.554000	0.86153	0.462000	0.41574	CGG	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276995.1		-	ENST00000247986.2	Missense_Mutation	SNP	1 : 21031182 - 21031182 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	510	51
ATG3	64422	broad.mit.edu	37	3	112253070	112253070	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112253070C>T	ENST00000402314.2	-	11	1296	c.909G>A	c.(907-909)acG>acA	p.T303T	ATG3_ENST00000283290.5_Intron	NM_001278712.1	NP_001265641.1	Q9NT62	ATG3_HUMAN	autophagy related 3	303					autophagic vacuole assembly|mitochondrial fragmentation involved in apoptosis|protein targeting to membrane|protein ubiquitination	cytoplasmic ubiquitin ligase complex|cytosol	Atg12 ligase activity|Atg8 ligase activity|enzyme binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						AAAAAAAAATCGTTAACAGCC	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001819	synonymous_variant				CCDS2966.1, CCDS63721.1	3q13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000144848	ENSG00000144848	64422	64422			20962	protein-coding gene	gene with protein product		609606	APG3 autophagy 3-like (S. cerevisiae), ATG3 autophagy related 3 homolog (S. cerevisiae)	APG3L	NA	11825910	Standard	NM_022488	NM_022488	NA	Approved	PC3-96, FLJ22125, MGC15201, DKFZp564M1178	uc003dzd.3	Q9NT62	OTTHUMG00000159260	ENST00000402314.2:c.909G>A	3.37:g.112253070C>T		NA	Q6PKC5|Q9H6L9	37																																																																																				ATG3-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000354149.1		-	ENST00000402314.2	Silent	SNP	3 : 112253070 - 112253070 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	92	18
MYLK	4638	broad.mit.edu	37	3	123427586	123427586	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123427586C>T	ENST00000360772.3	-	16	2477	c.2099G>A	c.(2098-2100)aGc>aAc	p.S700N	MYLK_ENST00000475616.1_Missense_Mutation_p.S700N|MYLK_ENST00000346322.5_Missense_Mutation_p.S631N|MYLK_ENST00000360304.3_Missense_Mutation_p.S700N|MYLK_ENST00000359169.1_Missense_Mutation_p.S700N			Q15746	MYLK_HUMAN	myosin light chain kinase	700	Ig-like C2-type 5.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTCTCCAGCGCTGTTCCAGGC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	70	72			NA	NA	3		NA											NA				123427586		2203	4300	6503	SO:0001583	missense			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	4638	4638	2.7.11.18	Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	7590	protein-coding gene	gene with protein product	smooth muscle myosin light chain kinase	600922	myosin, light polypeptide kinase		NA	8575746	Standard	NM_053025	NM_053026	NA	Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000360772.3:c.2099G>A	3.37:g.123427586C>T	ENSP00000354004:p.Ser700Asn	NA	O95796|O95797|O95798|O95799|Q14844|Q16794|Q5MY99|Q5MYA0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UIT9	37	CCDS3023.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865819	0.71949	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43	4.46	4.46	0.54185	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65984	0.2744	M	0.69463	2.115	0.80722	D	1	P;P;P;P;P	0.50443	0.734;0.806;0.837;0.935;0.775	B;B;B;P;P	0.46825	0.373;0.425;0.373;0.528;0.507	T	0.65533	-0.6145	9	0.36615	T	0.2	.	8.9041	0.35512	0.0:0.8614:0.0:0.1386	.	700;631;700;631;700	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	N	700;700;700;631;700	ENSP00000354004:S700N;ENSP00000353452:S700N;ENSP00000352088:S700N;ENSP00000320622:S631N;ENSP00000418335:S700N	ENSP00000320622:S631N	S	-	2	0	MYLK	124910276	1.000000	0.71417	0.952000	0.39060	0.957000	0.61999	4.971000	0.63749	2.453000	0.82957	0.655000	0.94253	AGC	MYLK-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280599.2		-	ENST00000360772.3	Missense_Mutation	SNP	3 : 123427586 - 123427586 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	460	83
ZNF576	79177	broad.mit.edu	37	19	44101344	44101344	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44101344C>T	ENST00000336564.4	+	2	238	c.84C>T	c.(82-84)atC>atT	p.I28I	ZNF576_ENST00000528387.1_Splice_Site_p.I28I|ZNF576_ENST00000533118.1_Splice_Site_p.I28I|ZNF576_ENST00000391965.2_Splice_Site_p.I28I|SRRM5_ENST00000607544.1_5'UTR|ZNF576_ENST00000525771.1_Splice_Site_p.I28I|ZNF576_ENST00000529930.1_Splice_Site_p.I28I|SRRM5_ENST00000526798.1_5'UTR	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				GAGGCAACATCTGTGAGTACA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	81	83			NA	NA	19		NA											NA				44101344		2203	4300	6503	SO:0001630	splice_region_variant			AK026353	CCDS12625.1	19q13.31	2013-09-20			ENSG00000124444	ENSG00000124444	79177	79177		Zinc fingers, C2H2-type	28357	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024327	NM_024327	NA	Approved	MGC2508	uc002owz.2	Q9H609	OTTHUMG00000165479	ENST00000336564.4:c.85+1C>T	19.37:g.44101344C>T		NA	Q9BU03	37	CCDS12625.1																																																																																			ZNF576-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384397.1	Silent	+	ENST00000336564.4	Splice_Site	SNP	19 : 44101344 - 44101344 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	295	73
CALCB	797	broad.mit.edu	37	11	15096342	15096342	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:15096342G>A	ENST00000523376.1	+	7	1373	c.111G>A	c.(109-111)gcG>gcA	p.A37A	CALCB_ENST00000533448.1_Silent_p.A26A|CALCB_ENST00000324229.6_Silent_p.A26A			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	26					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						TCCAGGCGGCGCCATTCAGGT	0.622		NA									OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	51	51			NA	NA	11		NA											NA				15096342		2200	4294	6494	SO:0001819	synonymous_variant				CCDS7820.1	11p14.2-p12	2013-02-25	2008-02-20			ENSG00000175868	797	797		Endogenous ligands	1438	protein-coding gene	gene with protein product		114160	calcitonin 2	CALC2	NA		Standard	NM_000728	NM_000728	NA	Approved	FLJ30166, CGRP-II	uc001mlx.1	P10092		ENST00000523376.1:c.111G>A	11.37:g.15096342G>A		700	A8K573|D3DQX4|Q569I0|Q9UCN9	37																																																																																				CALCB-001	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000379293.21		+	ENST00000523376.1	Silent	SNP	11 : 15096342 - 15096342 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	53
CPNE3	8895	broad.mit.edu	37	8	87549859	87549859	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:87549859G>T	ENST00000521271.1	+	7	690	c.528G>T	c.(526-528)atG>atT	p.M176I	CPNE3_ENST00000198765.4_Missense_Mutation_p.M176I	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	176	C2 2.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						ACTGGCTAATGGTTCATCGGA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	119	123			NA	NA	8		NA											NA				87549859		2203	4300	6503	SO:0001583	missense			AB014536	CCDS6243.1	8q21	2008-07-03				ENSG00000085719	8895	8895			2316	protein-coding gene	gene with protein product		604207			NA	9430674	Standard		NM_003909	NA	Approved		uc003ydv.2	O75131		ENST00000521271.1:c.528G>T	8.37:g.87549859G>T	ENSP00000430934:p.Met176Ile	NA	A8KA47|Q8IYA1	37	CCDS6243.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.809466	0.31961	.	.	ENSG00000085719	ENST00000198765;ENST00000521271;ENST00000523072	T;T;T	0.38077	1.16;1.16;1.16	5.63	5.63	0.86233	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.089993	0.85682	D	0.000000	T	0.22742	0.0549	N	0.16166	0.38	0.53688	D	0.999978	B	0.02656	0.0	B	0.04013	0.001	T	0.06789	-1.0807	10	0.22706	T	0.39	-23.7135	13.9088	0.63853	0.0727:0.0:0.9273:0.0	.	176	O75131	CPNE3_HUMAN	I	176	ENSP00000198765:M176I;ENSP00000430934:M176I;ENSP00000427791:M176I	ENSP00000198765:M176I	M	+	3	0	CPNE3	87618975	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.463000	0.66712	2.644000	0.89710	0.655000	0.94253	ATG	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374994.1		+	ENST00000521271.1	Missense_Mutation	SNP	8 : 87549859 - 87549859 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	494	98
DMXL2	23312	broad.mit.edu	37	15	51860756	51860756	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51860756C>A	ENST00000251076.5	-	3	501		c.e3-1		DMXL2_ENST00000543779.2_Splice_Site|DMXL2_ENST00000560421.1_Splice_Site|DMXL2_ENST00000449909.3_Splice_Site	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	NA						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AAGCTGCAATCTAAAAAAGAA	0.249		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	27	27			NA	NA	15		NA											NA				51860756		2170	4257	6427	SO:0001630	splice_region_variant			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093	23312	23312		WD repeat domain containing	2938	protein-coding gene	gene with protein product	rabconnectin 3	612186			NA		Standard	NM_015263	NM_001174116	NA	Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.214-1G>T	15.37:g.51860756C>A		NA	O94938	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550711	0.86127	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7452	0.91789	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DMXL2	49648048	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.359000	0.79477	2.507000	0.84556	0.650000	0.86243	.	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254671.2	Intron	-	ENST00000251076.5	Splice_Site	SNP	15 : 51860756 - 51860756 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	109	25
ARMCX6	54470	broad.mit.edu	37	X	100871474	100871474	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100871474T>C	ENST00000361910.4	-	3	481	c.137A>G	c.(136-138)gAc>gGc	p.D46G	ARMCX6_ENST00000539247.1_Missense_Mutation_p.D46G|ARMCX6_ENST00000538627.1_Missense_Mutation_p.D46G|ARMCX6_ENST00000497931.1_Intron	NM_019007.3	NP_061880.2	Q7L4S7	ARMX6_HUMAN	armadillo repeat containing, X-linked 6	46						integral to membrane				endometrium(3)|kidney(1)|liver(2)|lung(3)	9						ctggtcatcgtcccactcctc	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	84	87			NA	NA	X		NA											NA				100871474		2203	4300	6503	SO:0001583	missense			BC007677	CCDS14488.1	Xq21.33-q22.3	2014-03-21			ENSG00000198960	ENSG00000198960	54470	54470		Armadillo repeat containing	26094	protein-coding gene	gene with protein product					NA	16221301, 22569362	Standard	NM_019007	NM_001184768	NA	Approved	FLJ20811, GASP10	uc004ehy.3	Q7L4S7	OTTHUMG00000022034	ENST00000361910.4:c.137A>G	X.37:g.100871474T>C	ENSP00000354708:p.Asp46Gly	NA	Q9NWJ3	37	CCDS14488.1	.	.	.	.	.	.	.	.	.	.	.	7.500	0.652539	0.14580	.	.	ENSG00000198960	ENST00000361910;ENST00000539247;ENST00000538627	T;T;T	0.52295	0.67;0.67;0.67	3.71	2.55	0.30701	.	0.616408	0.13717	N	0.367662	T	0.33731	0.0873	L	0.38175	1.15	0.24072	N	0.99597	B	0.12013	0.005	B	0.08055	0.003	T	0.24941	-1.0146	10	0.52906	T	0.07	-1.718	4.934	0.13932	0.0:0.1394:0.0:0.8606	.	46	Q7L4S7	ARMX6_HUMAN	G	46	ENSP00000354708:D46G;ENSP00000444537:D46G;ENSP00000440648:D46G	ENSP00000354708:D46G	D	-	2	0	ARMCX6	100758130	0.954000	0.32549	0.643000	0.29450	0.418000	0.31294	1.764000	0.38471	0.628000	0.30357	0.385000	0.25706	GAC	ARMCX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057562.1		-	ENST00000361910.4	Missense_Mutation	SNP	X : 100871474 - 100871474 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	304	63
THOC2	57187	broad.mit.edu	37	X	122829989	122829989	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:122829989T>C	ENST00000245838.8	-	7	514	c.483A>G	c.(481-483)aaA>aaG	p.K161K	THOC2_ENST00000355725.4_Silent_p.K161K|THOC2_ENST00000491737.1_Silent_p.K46K	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	161					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						ACAAATTGAATTTTTGCTGCT	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	51	53			NA	NA	X		NA											NA				122829989		1805	4050	5855	SO:0001819	synonymous_variant			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676	57187	57187		THO complex subunits	19073	protein-coding gene	gene with protein product		300395	chromosome X open reading frame 3	CXorf3	NA	11979277	Standard		NM_001081550	NA	Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.483A>G	X.37:g.122829989T>C		NA	A6NM50|Q5JZ12|Q6IN92|Q9H8I6	37	CCDS43988.1																																																																																			THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058153.3		-	ENST00000245838.8	Silent	SNP	X : 122829989 - 122829989 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	147	48
BMP1	649	broad.mit.edu	37	8	22064400	22064400	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22064400G>A	ENST00000306385.5	+	17	2937	c.2267G>A	c.(2266-2268)gGt>gAt	p.G756D	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	756	CUB 4.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TCCACCAGTGGTACCATCACC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	77	85			NA	NA	8		NA											NA				22064400		2203	4300	6503	SO:0001583	missense				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	649	649	3.4.24.19	Bone morphogenetic proteins	1067	protein-coding gene	gene with protein product	procollagen C-endopeptidase	112264	procollagen C-endopeptidase	PCOLC	NA	2004778	Standard	NM_006132	NM_006129	NA	Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2267G>A	8.37:g.22064400G>A	ENSP00000305714:p.Gly756Asp	NA	A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	37	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652649	0.88056	.	.	ENSG00000168487	ENST00000306385	T	0.50548	0.74	4.0	4.0	0.46444	CUB (5);	0.000000	0.39341	U	0.001397	T	0.78464	0.4287	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86443	0.1768	10	0.72032	D	0.01	.	15.0597	0.71942	0.0:0.0:1.0:0.0	.	756	P13497	BMP1_HUMAN	D	756	ENSP00000305714:G756D	ENSP00000305714:G756D	G	+	2	0	BMP1	22120345	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	9.640000	0.98453	2.052000	0.61016	0.462000	0.41574	GGT	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214995.2		+	ENST00000306385.5	Missense_Mutation	SNP	8 : 22064400 - 22064400 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	60
C20orf26	0	broad.mit.edu	37	20	20269275	20269275	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20269275A>C	ENST00000245957.5	+	23	2895	c.2819A>C	c.(2818-2820)aAg>aCg	p.K940T	C20orf26_ENST00000377309.2_Intron	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		940										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TTCTGTGAGAAGAATGTGGAT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													189	182	185			NA	NA	20		NA											NA				20269275		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000245957.5:c.2819A>C	20.37:g.20269275A>C	ENSP00000245957:p.Lys940Thr	NA	A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	37	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	A	18.94	3.729971	0.69074	.	.	ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957	T	0.12879	2.64	5.6	5.6	0.85130	.	0.051644	0.85682	D	0.000000	T	0.36166	0.0957	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.12477	-1.0546	10	0.72032	D	0.01	.	11.6781	0.51442	0.929:0.0:0.071:0.0	.	940	Q8NHU2	CT026_HUMAN	T	880;906;940	ENSP00000245957:K940T	ENSP00000245957:K940T	K	+	2	0	C20orf26	20217275	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.045000	0.64220	2.142000	0.66516	0.528000	0.53228	AAG	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078228.3		+	ENST00000245957.5	Missense_Mutation	SNP	20 : 20269275 - 20269275 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	936	167
RBBP6	5930	broad.mit.edu	37	16	24581479	24581479	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24581479A>G	ENST00000319715.4	+	17	3900	c.3468A>G	c.(3466-3468)gtA>gtG	p.V1156V	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Silent_p.V1122V	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1156					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AAAAAGGCGTAGATAAAGATT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	59	57			NA	NA	16		NA											NA				24581479		2197	4296	6493	SO:0001819	synonymous_variant				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257	5930	5930			9889	protein-coding gene	gene with protein product	proliferation potential-related protein	600938	retinoblastoma-binding protein 6		NA	8595913, 16396680	Standard	NM_006910	NM_006910	NA	Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.3468A>G	16.37:g.24581479A>G		NA	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	37	CCDS10621.1																																																																																			RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214067.2		+	ENST00000319715.4	Silent	SNP	16 : 24581479 - 24581479 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	424	24
ATP13A1	57130	broad.mit.edu	37	19	19767835	19767835	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19767835G>A	ENST00000357324.6	-	5	900	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W	ATP13A1_ENST00000291503.5_Missense_Mutation_p.R174W	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	292					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CCCATCTTCCGGATCTCCGAC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(142;920 1789 9047 14684 24777)							NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726	57130	57130		ATPases / P-type	24215	protein-coding gene	gene with protein product	cation transporting ATPase		ATPase type 13A	ATP13A	NA	11347906	Standard	NM_020410	NM_020410	NA	Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.874C>T	19.37:g.19767835G>A	ENSP00000349877:p.Arg292Trp	NA	B3KPJ2|B3KTA7|Q9H6C6	37	CCDS32970.2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132679	0.77662	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	D;D	0.89552	-2.53;-2.53	5.36	4.32	0.51571	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.053509	0.64402	D	0.000001	D	0.96272	0.8784	H	0.97852	4.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.96452	0.9335	10	0.72032	D	0.01	-28.0434	11.1694	0.48563	0.0:0.0:0.6654:0.3346	.	292;174	Q9HD20;Q9HD20-2	AT131_HUMAN;.	W	174;292	ENSP00000291503:R174W;ENSP00000349877:R292W	ENSP00000291503:R174W	R	-	1	2	ATP13A1	19628835	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	5.171000	0.64996	1.253000	0.44018	0.563000	0.77884	CGG	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329005.1		-	ENST00000357324.6	Missense_Mutation	SNP	19 : 19767835 - 19767835 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	67	11
SCN10A	6336	broad.mit.edu	37	3	38768406	38768406	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38768406C>T	ENST00000449082.2	-	16	2777	c.2778G>A	c.(2776-2778)caG>caA	p.Q926Q		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	926					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGCAAAGAGCCTGTTTGGTAC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	112	112			NA	NA	3		NA											NA				38768406		2203	4300	6503	SO:0001819	synonymous_variant			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313	6336	6336		Sodium channels, Voltage-gated ion channels / Sodium channels	10582	protein-coding gene	gene with protein product		604427	sodium channel, voltage-gated, type X, alpha polypeptide		NA	9839820, 10198179, 16382098	Standard	NM_006514	NM_006514	NA	Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2778G>A	3.37:g.38768406C>T		NA	A6NDQ1	37	CCDS33736.1																																																																																			SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109745.3		-	ENST00000449082.2	Silent	SNP	3 : 38768406 - 38768406 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	649	23
ELMOD2	255520	broad.mit.edu	37	4	141461345	141461345	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141461345G>A	ENST00000323570.3	+	6	555	c.423G>A	c.(421-423)acG>acA	p.T141T		NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	141	ELMO.				phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					TAATGCCCACGAAGAAGTTAA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	89	90			NA	NA	4		NA											NA				141461345		2203	4300	6503	SO:0001819	synonymous_variant			BX648349	CCDS3752.1	4q31.1	2006-10-24	2006-01-20		ENSG00000179387	ENSG00000179387	255520	255520			28111	protein-coding gene	gene with protein product		610196	ELMO domain containing 2		NA	16773575	Standard	NM_153702	NM_153702	NA	Approved	MGC10084	uc003iik.3	Q8IZ81	OTTHUMG00000133417	ENST00000323570.3:c.423G>A	4.37:g.141461345G>A		NA	B2R712|D3DNZ0	37	CCDS3752.1																																																																																			ELMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257277.2		+	ENST00000323570.3	Silent	SNP	4 : 141461345 - 141461345 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	339	17
FBXO24	26261	broad.mit.edu	37	7	100190416	100190416	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100190416A>G	ENST00000241071.6	+	5	891	c.569A>G	c.(568-570)gAc>gGc	p.D190G	FBXO24_ENST00000360609.2_Missense_Mutation_p.D176G|FBXO24_ENST00000465843.1_Missense_Mutation_p.D176G|FBXO24_ENST00000468962.1_Missense_Mutation_p.D178G|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Missense_Mutation_p.D228G	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	190						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TTTGCCTCGGACCCAAGGTGT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	47	48			NA	NA	7		NA											NA				100190416		2203	4300	6503	SO:0001583	missense			AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336	26261	26261		F-boxes /  other	13595	protein-coding gene	gene with protein product		609097	F-box only protein 24		NA	10531035, 10531037	Standard		NM_012172	NA	Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.569A>G	7.37:g.100190416A>G	ENSP00000241071:p.Asp190Gly	NA	A4D2D4|Q9H0G1	37	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.386392	0.82902	.	.	ENSG00000106336	ENST00000241071;ENST00000360609;ENST00000465843;ENST00000468962;ENST00000427939	T;T;T;T;T	0.63255	1.45;-0.03;-0.03;1.46;1.41	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000002	T	0.67078	0.2855	N	0.19112	0.55	0.48830	D	0.999714	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.83275	0.996;0.996;0.996;0.991	T	0.71764	-0.4494	10	0.72032	D	0.01	-27.7735	14.0457	0.64704	1.0:0.0:0.0:0.0	.	178;228;190;176	B4DY42;B4DX91;O75426;O75426-2	.;.;FBX24_HUMAN;.	G	190;176;176;178;228	ENSP00000241071:D190G;ENSP00000353821:D176G;ENSP00000419602:D176G;ENSP00000420239:D178G;ENSP00000416558:D228G	ENSP00000241071:D190G	D	+	2	0	FBXO24	100028352	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.395000	0.66291	2.212000	0.71576	0.456000	0.33151	GAC	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356104.1		+	ENST00000241071.6	Missense_Mutation	SNP	7 : 100190416 - 100190416 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	187	34
ZNF619	285267	broad.mit.edu	37	3	40528415	40528415	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40528415C>T	ENST00000314686.5	+	6	771	c.366C>T	c.(364-366)gaC>gaT	p.D122D	ZNF619_ENST00000456778.1_Silent_p.D94D|ZNF619_ENST00000447116.2_Silent_p.D178D|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000521353.1_Silent_p.D178D|ZNF619_ENST00000429348.2_Silent_p.D138D|ZNF619_ENST00000432264.2_Silent_p.D138D|ZNF619_ENST00000522736.1_Silent_p.D129D			E9PCD9	E9PCD9_HUMAN	zinc finger protein 619	178					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGCACCCTGACTTCAAGGACA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	67	67			NA	NA	3		NA											NA				40528415		2203	4300	6503	SO:0001819	synonymous_variant			AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873	285267	285267		Zinc fingers, C2H2-type, -	26910	protein-coding gene	gene with protein product					NA		Standard	NM_173656	NM_001145083	NA	Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.366C>T	3.37:g.40528415C>T		NA		37																																																																																				ZNF619-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000254180.2		+	ENST00000314686.5	Silent	SNP	3 : 40528415 - 40528415 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	378	65
GOT1	2805	broad.mit.edu	37	10	101190246	101190246	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101190246C>A	ENST00000370508.5	-	1	104	c.77G>T	c.(76-78)aGg>aTg	p.R26M	GOT1_ENST00000471741.1_5'UTR	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	26					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CGGATCCTCCCTGAAGTCGGC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(173;770 3544 21601)							NA				0													109	106	107			NA	NA	10		NA											NA				101190246		2203	4300	6503	SO:0001583	missense			M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2805	2805	2.6.1.1		4432	protein-coding gene	gene with protein product	aspartate aminotransferase 1, aspartate transaminase 1	138180	glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)		NA	1974457	Standard	NM_002079	NM_002079	NA	Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.77G>T	10.37:g.101190246C>A	ENSP00000359539:p.Arg26Met	NA	B2R6R7|Q5VW80	37	CCDS7479.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585378	0.66105	.	.	ENSG00000120053	ENST00000370508;ENST00000535447	T	0.23348	1.91	5.77	5.77	0.91146	Pyridoxal phosphate-dependent transferase, major domain (1);	0.107962	0.64402	D	0.000006	T	0.35364	0.0929	M	0.75615	2.305	0.80722	D	1	B;B	0.16166	0.016;0.016	B;B	0.09377	0.004;0.004	T	0.13469	-1.0508	10	0.87932	D	0	-4.1193	19.133	0.93415	0.0:1.0:0.0:0.0	.	26;26	Q2TU84;P17174	.;AATC_HUMAN	M	26	ENSP00000359539:R26M	ENSP00000359539:R26M	R	-	2	0	GOT1	101180236	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.143000	0.58051	2.885000	0.99019	0.655000	0.94253	AGG	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049794.1		-	ENST00000370508.5	Missense_Mutation	SNP	10 : 101190246 - 101190246 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	815	144
CAMP	820	broad.mit.edu	37	3	48266844	48266844	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48266844A>G	ENST00000296435.2	+	4	608	c.452A>G	c.(451-453)aAa>aGa	p.K151R	CAMP_ENST00000576243.1_Missense_Mutation_p.K148R	NM_004345.4	NP_004336.3	P49913	CAMP_HUMAN	cathelicidin antimicrobial peptide	148					killing by host of symbiont cells|negative regulation of growth of symbiont on or near host surface	extracellular region				endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AAGATTGGCAAAGAGTTTAAA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	130	126			NA	NA	3		NA											NA				48266844		2203	4300	6503	SO:0001583	missense			BC055089	CCDS2762.1, CCDS2762.2	3p21.3	2014-01-30			ENSG00000164047	ENSG00000164047	820	820		Endogenous ligands	1472	protein-coding gene	gene with protein product		600474			NA	7624374	Standard	NM_004345	NM_004345	NA	Approved	CAP18, FALL39, FALL-39, LL37	uc003csj.3	P49913	OTTHUMG00000133526	ENST00000296435.2:c.452A>G	3.37:g.48266844A>G	ENSP00000296435:p.Lys151Arg	NA	Q71SN9	37	CCDS2762.2	.	.	.	.	.	.	.	.	.	.	A	9.524	1.109045	0.20714	.	.	ENSG00000164047	ENST00000296435	.	.	.	4.43	-7.69	0.01263	Cathelicidin, antimicrobial peptide, C-terminal (1);	1.918670	0.01955	N	0.042902	T	0.15046	0.0363	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13282	-1.0515	9	0.25106	T	0.35	-0.4611	7.0673	0.25159	0.425:0.0:0.455:0.12	.	148	P49913	CAMP_HUMAN	R	148	.	ENSP00000296435:K148R	K	+	2	0	CAMP	48241848	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.654000	0.01984	-1.492000	0.01838	-0.232000	0.12228	AAA	CAMP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257501.2		+	ENST00000296435.2	Missense_Mutation	SNP	3 : 48266844 - 48266844 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	877	150
KCNJ14	3770	broad.mit.edu	37	19	48965405	48965405	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48965405C>A	ENST00000391884.1	+	1	900	c.424C>A	c.(424-426)Ctg>Atg	p.L142M	KCNJ14_ENST00000342291.2_Missense_Mutation_p.L142M			Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	142						voltage-gated potassium channel complex	inward rectifier potassium channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		CCTCTTCGCGCTGGAGACGCA	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(148;170 3504 35216)							NA				0													8	8	8			NA	NA	19		NA											NA				48965405		2164	4221	6385	SO:0001583	missense			BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324	3770	3770		Potassium channels, Voltage-gated ion channels / Potassium channels, Inwardly rectifying	6260	protein-coding gene	gene with protein product		603953			NA	9592090, 10723734, 16382105	Standard	NM_013348	NM_013348	NA	Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.424C>A	19.37:g.48965405C>A	ENSP00000375756:p.Leu142Met	NA		37	CCDS12721.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723657	0.68959	.	.	ENSG00000182324	ENST00000342291;ENST00000391884	D;D	0.95069	-3.6;-3.6	4.69	4.69	0.59074	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.64402	D	0.000005	D	0.94653	0.8276	L	0.52573	1.65	0.50813	D	0.999895	P	0.46952	0.887	P	0.57548	0.823	D	0.94311	0.7545	10	0.72032	D	0.01	.	9.2025	0.37268	0.0:0.9:0.0:0.1	.	142	Q9UNX9	IRK14_HUMAN	M	142	ENSP00000341479:L142M;ENSP00000375756:L142M	ENSP00000341479:L142M	L	+	1	2	KCNJ14	53657217	0.006000	0.16342	1.000000	0.80357	0.972000	0.66771	0.017000	0.13399	2.323000	0.78572	0.591000	0.81541	CTG	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466127.1		+	ENST00000391884.1	Missense_Mutation	SNP	19 : 48965405 - 48965405 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	68	11
SNAI3	333929	broad.mit.edu	37	16	88744989	88744989	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88744989C>T	ENST00000332281.5	-	3	832	c.746G>A	c.(745-747)cGc>cAc	p.R249H	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	249					oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		AAGGTTGGAGCGGTCGGCAAA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(27;366 710 19748 23199 27567)							NA				0													69	56	61			NA	NA	16		NA											NA				88744989		2197	4300	6497	SO:0001583	missense			BC041461	CCDS32505.1	16q24.3	2013-05-23	2013-05-23			ENSG00000185669	333929	333929		Snail homologs, Zinc fingers, C2H2-type	18411	protein-coding gene	gene with protein product		612741	zinc finger protein 293, snail homolog 3 (Drosophila)	ZNF293	NA	12579345	Standard		NM_178310	NA	Approved	SMUC, Zfp293	uc002flj.3	Q3KNW1		ENST00000332281.5:c.746G>A	16.37:g.88744989C>T	ENSP00000327968:p.Arg249His	NA	Q86SU5	37	CCDS32505.1	.	.	.	.	.	.	.	.	.	.	C	30	5.054378	0.93793	.	.	ENSG00000185669	ENST00000332281	T	0.36157	1.27	5.09	5.09	0.68999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.51449	0.1675	L	0.38733	1.17	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.49184	-0.8966	10	0.48119	T	0.1	-54.8198	17.6108	0.88053	0.0:1.0:0.0:0.0	.	249	Q3KNW1	SNAI3_HUMAN	H	249	ENSP00000327968:R249H	ENSP00000327968:R249H	R	-	2	0	SNAI3	87272490	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.647000	0.67923	2.521000	0.84997	0.561000	0.74099	CGC	SNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000422582.1		-	ENST00000332281.5	Missense_Mutation	SNP	16 : 88744989 - 88744989 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	271	39
MEN1	4221	broad.mit.edu	37	11	64575388	64575388	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64575388G>A	ENST00000377316.2	-	2	1004	c.629C>T	c.(628-630)aCa>aTa	p.T210I	MEN1_ENST00000337652.1_Missense_Mutation_p.T215I|MEN1_ENST00000315422.4_Missense_Mutation_p.T210I|MEN1_ENST00000394376.1_Missense_Mutation_p.T215I|MEN1_ENST00000443283.1_Missense_Mutation_p.T215I|MEN1_ENST00000394374.2_Missense_Mutation_p.T215I|MEN1_ENST00000377321.1_Intron|MEN1_ENST00000377326.3_Missense_Mutation_p.T210I|MEN1_ENST00000377313.1_Missense_Mutation_p.T215I|MEN1_ENST00000312049.6_Missense_Mutation_p.T210I			O00255	MEN1_HUMAN	multiple endocrine neoplasia I	215					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.T210fs*13(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GGCATTGACTGTCTGGCCCCT	0.597		NA	D, Mis, N, F, S		parathyroid tumors, Pancreatic neuroendocrine tumors	parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(1;83 158 15500 18603 18803 29295)	yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	multiple endocrine neoplasia type 1 gene		E	1	Deletion - Frameshift(1)	parathyroid(1)											80	61	67			NA	NA	11		NA											NA				64575388		2201	4297	6498	SO:0001583	missense	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895	NA	4221			7010	protein-coding gene	gene with protein product	menin	613733			NA		Standard		NM_130799	NA	Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000377316.2:c.629C>T	11.37:g.64575388G>A	ENSP00000366533:p.Thr210Ile	NA	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	37		.	.	.	.	.	.	.	.	.	.	G	17.82	3.483385	0.63962	.	.	ENSG00000133895	ENST00000377316;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313;ENST00000440873;ENST00000450708;ENST00000413626	D;D;D;D;D;D;D;D;D;D;D;D	0.99422	-5.88;-5.88;-5.88;-5.88;-5.88;-5.88;-5.88;-5.88;-5.88;-5.88;-5.88;-5.88	4.8	4.8	0.61643	.	0.128336	0.51477	D	0.000092	D	0.98432	0.9478	L	0.40543	1.245	0.51233	D	0.999918	P;P	0.37525	0.544;0.598	B;B	0.42361	0.266;0.385	D	0.99908	1.1187	10	0.66056	D	0.02	-3.0626	15.7433	0.77920	0.0:0.0:1.0:0.0	.	210;215	O00255-2;O00255	.;MEN1_HUMAN	I	210;210;210;210;215;215;215;215;215;210;210;210	ENSP00000366533:T210I;ENSP00000366543:T210I;ENSP00000308975:T210I;ENSP00000323747:T210I;ENSP00000337088:T215I;ENSP00000377901:T215I;ENSP00000377899:T215I;ENSP00000396940:T215I;ENSP00000366530:T215I;ENSP00000413944:T210I;ENSP00000394933:T210I;ENSP00000411218:T210I	ENSP00000308975:T210I	T	-	2	0	MEN1	64331964	1.000000	0.71417	0.946000	0.38457	0.729000	0.41735	6.808000	0.75206	2.386000	0.81285	0.462000	0.41574	ACA	MEN1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000143886.6		-	ENST00000377316.2	Missense_Mutation	SNP	11 : 64575388 - 64575388 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	273	9
SLCO1B1	10599	broad.mit.edu	37	12	21294592	21294592	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21294592G>T	ENST00000256958.2	+	2	180	c.84G>T	c.(82-84)aaG>aaT	p.K28N		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	28					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	ATGGATTGAAGGTAGAATAAG	0.274		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	63	63			NA	NA	12		NA											NA				21294592		2203	4294	6497	SO:0001630	splice_region_variant				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538	10599	10599		Solute carriers	10959	protein-coding gene	gene with protein product		604843	solute carrier family 21 (organic anion transporter), member 6	SLC21A6	NA	10358072	Standard	NM_006446	NM_006446	NA	Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.84+1G>T	12.37:g.21294592G>T		NA	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	37	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	.	12.06	1.825208	0.32237	.	.	ENSG00000134538	ENST00000256958	T	0.58940	0.3	3.52	3.52	0.40303	Major facilitator superfamily domain, general substrate transporter (1);	0.477998	0.22930	N	0.053920	T	0.75191	0.3816	M	0.85099	2.735	0.39922	D	0.974171	D	0.64830	0.994	D	0.70487	0.969	T	0.79855	-0.1627	10	0.87932	D	0	.	10.8585	0.46812	0.0:0.0:1.0:0.0	.	28	Q9Y6L6	SO1B1_HUMAN	N	28	ENSP00000256958:K28N	ENSP00000256958:K28N	K	+	3	2	SLCO1B1	21185859	1.000000	0.71417	0.998000	0.56505	0.017000	0.09413	3.719000	0.54926	2.255000	0.74692	0.650000	0.86243	AAG	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402070.1	Missense_Mutation	+	ENST00000256958.2	Splice_Site	SNP	12 : 21294592 - 21294592 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	201	19
KIF4B	285643	broad.mit.edu	37	5	154393573	154393573	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154393573G>A	ENST00000435029.4	+	1	314	c.154G>A	c.(154-156)Gat>Aat	p.D52N		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	52	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTTCACCTACGATTTTGTGTT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	104	105			NA	NA	5		NA											NA				154393573		2203	4300	6503	SO:0001583	missense			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650	285643	285643		Kinesins	6322	protein-coding gene	gene with protein product		609184			NA		Standard		NM_001099293	NA	Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.154G>A	5.37:g.154393573G>A	ENSP00000387875:p.Asp52Asn	NA		37	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	g	15.24	2.776280	0.49786	.	.	ENSG00000226650	ENST00000435029	D	0.82619	-1.63	1.48	1.48	0.22813	Kinesin, motor domain (4);	.	.	.	.	D	0.86598	0.5971	M	0.72894	2.215	0.58432	D	0.999999	D	0.65815	0.995	P	0.61003	0.882	D	0.85022	0.0912	9	0.46703	T	0.11	.	8.8832	0.35387	0.0:0.0:1.0:0.0	.	52	Q2VIQ3	KIF4B_HUMAN	N	52	ENSP00000387875:D52N	ENSP00000387875:D52N	D	+	1	0	KIF4B	154373766	1.000000	0.71417	0.999000	0.59377	0.916000	0.54674	6.342000	0.72982	1.138000	0.42230	0.563000	0.77884	GAT	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377478.1		+	ENST00000435029.4	Missense_Mutation	SNP	5 : 154393573 - 154393573 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	327	55
FAM65A	79567	broad.mit.edu	37	16	67579738	67579738	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67579738C>T	ENST00000540839.3	+	20	3639	c.3419C>T	c.(3418-3420)tCa>tTa	p.S1140L	FAM65A_ENST00000379312.3_Missense_Mutation_p.S1125L|FAM65A_ENST00000428437.2_Missense_Mutation_p.S1135L|FAM65A_ENST00000422602.2_Missense_Mutation_p.S1141L|FAM65A_ENST00000042381.4_Missense_Mutation_p.S1121L			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	1125						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CGGAGCCTGTCACTGGGCCCT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	56	54			NA	NA	16		NA											NA				67579738		2198	4300	6498	SO:0001583	missense			AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523	79567	79567			25836	protein-coding gene	gene with protein product					NA	11572484	Standard	NM_024519	NM_001193522	NA	Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000540839.3:c.3419C>T	16.37:g.67579738C>T	ENSP00000443568:p.Ser1140Leu	NA	Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	37		.	.	.	.	.	.	.	.	.	.	C	24.2	4.507564	0.85282	.	.	ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	T;T;T	0.78003	-1.14;-1.14;-1.14	5.58	4.61	0.57282	Armadillo-like helical (1);Armadillo-type fold (1);	0.518270	0.19794	N	0.105918	D	0.83464	0.5260	L	0.42245	1.32	0.33306	D	0.565508	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.68039	0.955;0.955;0.955	D	0.88327	0.2966	10	0.87932	D	0	-5.5324	15.6803	0.77364	0.138:0.862:0.0:0.0	.	1135;1141;1125	B4DIM2;E9PBS3;Q6ZS17	.;.;FA65A_HUMAN	L	1125;1121;1141;1135	ENSP00000368614:S1125L;ENSP00000042381:S1121L;ENSP00000400099:S1141L	ENSP00000042381:S1121L	S	+	2	0	FAM65A	66137239	0.913000	0.31002	1.000000	0.80357	0.940000	0.58332	2.813000	0.48002	1.319000	0.45190	0.655000	0.94253	TCA	FAM65A-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000268867.2		+	ENST00000540839.3	Missense_Mutation	SNP	16 : 67579738 - 67579738 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	428	41
RYR2	6262	broad.mit.edu	37	1	237780719	237780719	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237780719C>T	ENST00000366574.2	+	38	6166	c.5849C>T	c.(5848-5850)gCc>gTc	p.A1950V	RYR2_ENST00000542537.1_Missense_Mutation_p.A1934V|RYR2_ENST00000360064.6_Missense_Mutation_p.A1948V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1950	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTCATGCAAGCCTTAAACATG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	97	99			NA	NA	1		NA											NA				237780719		2013	4200	6213	SO:0001583	missense			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626	6262	6262		Ion channels / Ryanodine receptors, EF-hand domain containing	10484	protein-coding gene	gene with protein product		180902	arrhythmogenic right ventricular dysplasia 2	ARVD2	NA	2380170, 8406504, 11159936	Standard	NM_001035	NM_001035	NA	Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5849C>T	1.37:g.237780719C>T	ENSP00000355533:p.Ala1950Val	NA	Q15411|Q546N8|Q5T3P2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	34	5.306871	0.95629	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.74002	-0.8;-0.8;-0.8	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000006	D	0.85539	0.5720	M	0.66297	2.02	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.86757	0.1964	10	0.87932	D	0	.	19.1627	0.93541	0.0:1.0:0.0:0.0	.	1950	Q92736	RYR2_HUMAN	V	1950;1948;1934	ENSP00000355533:A1950V;ENSP00000353174:A1948V;ENSP00000443798:A1934V	ENSP00000353174:A1948V	A	+	2	0	RYR2	235847342	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.776000	0.85560	2.517000	0.84864	0.650000	0.86243	GCC	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095402.2		+	ENST00000366574.2	Missense_Mutation	SNP	1 : 237780719 - 237780719 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	353	67
PLXNA3	55558	broad.mit.edu	37	X	153694277	153694277	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153694277G>A	ENST00000369682.3	+	14	2707		c.e14-1			NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	NA					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGCTCCACAGATCCACCCTC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	46	46			NA	NA	X		NA											NA				153694277		2202	4300	6502	SO:0001630	splice_region_variant			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827	55558	55558		Plexins	9101	protein-coding gene	gene with protein product		300022		PLXN4	NA	8248200, 8733135	Standard	NM_017514	NM_017514	NA	Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.2533-1G>A	X.37:g.153694277G>A		NA	Q5HY36	37	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.771244	0.31320	.	.	ENSG00000130827	ENST00000369682	.	.	.	5.17	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8804	0.52571	0.0888:0.0:0.9112:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLXNA3	153347471	1.000000	0.71417	0.978000	0.43139	0.377000	0.30045	6.242000	0.72376	0.956000	0.37904	0.600000	0.82982	.	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000081634.1	Intron	+	ENST00000369682.3	Splice_Site	SNP	X : 153694277 - 153694277 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	254	73
GALR2	8811	broad.mit.edu	37	17	74073063	74073063	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74073063C>A	ENST00000329003.3	+	2	805	c.715C>A	c.(715-717)Ctc>Atc	p.L239I		NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	239					digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						ACGCATGATCCTCATCGTGGC	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	30	29			NA	NA	17		NA											NA				74073063		2203	4298	6501	SO:0001583	missense			AF040630	CCDS11739.1	17q25.3	2012-08-08			ENSG00000182687	ENSG00000182687	8811	8811		GPCR / Class A : Galanin receptors	4133	protein-coding gene	gene with protein product		603691			NA	9685625, 9832121	Standard		NM_003857	NA	Approved	GALNR2	uc002jqm.1	O43603	OTTHUMG00000167479	ENST00000329003.3:c.715C>A	17.37:g.74073063C>A	ENSP00000329684:p.Leu239Ile	NA	A5JUU4|Q32MN8	37	CCDS11739.1	.	.	.	.	.	.	.	.	.	.	C	7.492	0.650894	0.14516	.	.	ENSG00000182687	ENST00000329003	T	0.38401	1.14	4.85	-6.75	0.01738	GPCR, rhodopsin-like superfamily (1);	0.866516	0.09810	N	0.752895	T	0.14743	0.0356	N	0.10685	0.025	0.25763	N	0.98493	B	0.06786	0.001	B	0.12156	0.007	T	0.34825	-0.9813	10	0.17832	T	0.49	.	10.2836	0.43554	0.6392:0.1143:0.2464:0.0	.	239	O43603	GALR2_HUMAN	I	239	ENSP00000329684:L239I	ENSP00000329684:L239I	L	+	1	0	GALR2	71584658	0.363000	0.24989	0.113000	0.21522	0.948000	0.59901	-0.127000	0.10547	-1.413000	0.02027	0.462000	0.41574	CTC	GALR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394760.1		+	ENST00000329003.3	Missense_Mutation	SNP	17 : 74073063 - 74073063 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	222	40
MLLT10	8028	broad.mit.edu	37	10	21962743	21962743	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:21962743T>C	ENST00000377072.3	+	11	1864	c.1516T>C	c.(1516-1518)Tca>Cca	p.S506P	MLLT10_ENST00000307729.7_Missense_Mutation_p.S506P|MLLT10_ENST00000377059.3_Missense_Mutation_p.S506P|MLLT10_ENST00000446906.2_Missense_Mutation_p.S506P	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	506	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						ATCTGTAGCATCAGCTGCAGG	0.448		NA	T	MLL, PICALM, CDK6	AL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		10	10p12	8028	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)		L	0													96	94	94			NA	NA	10		NA											NA				21962743		2203	4300	6503	SO:0001583	missense			U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403	8028	8028		Zinc fingers, PHD-type	16063	protein-coding gene	gene with protein product		602409	myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10		NA	7888665	Standard		NM_004641	NA	Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000377072.3:c.1516T>C	10.37:g.21962743T>C	ENSP00000366272:p.Ser506Pro	NA	Q5JT37	37	CCDS7135.1	.	.	.	.	.	.	.	.	.	.	T	17.87	3.495950	0.64186	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059;ENST00000438473;ENST00000538639	T;T;T;T	0.16597	2.33;2.44;2.45;2.44	5.62	5.62	0.85841	.	0.494770	0.22510	N	0.059111	T	0.31420	0.0796	L	0.51422	1.61	0.80722	D	1	P;D;D;D	0.65815	0.867;0.966;0.995;0.973	P;P;P;P	0.56278	0.623;0.598;0.795;0.674	T	0.01242	-1.1408	10	0.51188	T	0.08	.	15.823	0.78673	0.0:0.0:0.0:1.0	.	352;506;506;506	F5H541;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	P	506;506;506;352;506;149;148	ENSP00000366272:S506P;ENSP00000401406:S506P;ENSP00000307411:S506P;ENSP00000366258:S506P	ENSP00000307411:S506P	S	+	1	0	MLLT10	22002749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.561000	0.60809	2.149000	0.67028	0.477000	0.44152	TCA	MLLT10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047135.1		+	ENST00000377072.3	Missense_Mutation	SNP	10 : 21962743 - 21962743 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	416	100
MAP3K15	389840	broad.mit.edu	37	X	19413252	19413252	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:19413252C>T	ENST00000359173.3	-	13	1468	c.446G>A	c.(445-447)gGc>gAc	p.G149D	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000338883.4_Missense_Mutation_p.G714D|MAP3K15_ENST00000469203.2_Missense_Mutation_p.G546D			Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	714							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TGAAACAGAGCCCAGGTACTG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	139	148			NA	NA	X		NA											NA				19413252		2203	4300	6503	SO:0001583	missense			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815	389840	389840		Mitogen-activated protein kinase cascade / Kinase kinase kinases	31689	protein-coding gene	gene with protein product		300820			NA		Standard	NM_001001671	NM_001001671	NA	Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000359173.3:c.446G>A	X.37:g.19413252C>T	ENSP00000352093:p.Gly149Asp	NA	A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	37		.	.	.	.	.	.	.	.	.	.	C	23.1	4.373227	0.82573	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.25579	1.79;1.79;1.79	5.91	5.05	0.67936	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.45597	0.1350	L	0.49350	1.555	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.97110	0.986;1.0	T	0.42361	-0.9456	10	0.87932	D	0	.	14.1375	0.65297	0.0:0.9264:0.0:0.0736	.	189;714	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	D	714;149;546	ENSP00000345629:G714D;ENSP00000352093:G149D;ENSP00000428356:G546D	ENSP00000345629:G714D	G	-	2	0	MAP3K15	19323173	1.000000	0.71417	0.960000	0.40013	0.898000	0.52572	7.429000	0.80309	1.243000	0.43853	0.597000	0.82753	GGC	MAP3K15-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000286445.2		-	ENST00000359173.3	Missense_Mutation	SNP	X : 19413252 - 19413252 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	552	141
ZNF133	7692	broad.mit.edu	37	20	18296806	18296806	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18296806G>A	ENST00000377671.3	+	7	1867	c.1308G>A	c.(1306-1308)ccG>ccA	p.P436P	ZNF133_ENST00000402618.2_Silent_p.P374P|ZNF133_ENST00000316358.4_Silent_p.P437P|ZNF133_ENST00000538547.1_Silent_p.P342P|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000401790.1_Silent_p.P437P|ZNF133_ENST00000396026.3_Silent_p.P440P|ZNF133_ENST00000535822.1_Silent_p.P342P	NM_001083330.2|NM_003434.4	NP_001076799.1|NP_003425	P52736	ZN133_HUMAN	zinc finger protein 133	437						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						GGGAGAAGCCGTATGTTTGTG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	64	64			NA	NA	20		NA											NA				18296806		2203	4300	6503	SO:0001819	synonymous_variant			AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846	7692	7692		Zinc fingers, C2H2-type, -	12917	protein-coding gene	gene with protein product		604075	zinc finger protein 150 (pHZ-66), zinc finger protein 133 (clone pHZ-13)	ZNF150	NA	7557990, 7649249	Standard	NM_003434	XM_005260819	NA	Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000377671.3:c.1308G>A	20.37:g.18296806G>A		NA	A8K5S4|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	37	CCDS13134.1																																																																																			ZNF133-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078158.2		+	ENST00000377671.3	Silent	SNP	20 : 18296806 - 18296806 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	517	104
ABHD15	116236	broad.mit.edu	37	17	27889827	27889827	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27889827G>A	ENST00000307201.4	-	2	1329	c.1159C>T	c.(1159-1161)Cgc>Tgc	p.R387C	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	387						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						CCTCCGTGGCGACTGAGCAGG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	64	63			NA	NA	17		NA											NA				27889827		2203	4300	6503	SO:0001583	missense			AK056717	CCDS32602.1	17q11.2	2009-11-20			ENSG00000168792	ENSG00000168792	116236	116236		Abhydrolase domain containing	26971	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_198147	NM_198147	NA	Approved		uc002hed.2	Q6UXT9		ENST00000307201.4:c.1159C>T	17.37:g.27889827G>A	ENSP00000302657:p.Arg387Cys	NA	Q96EC5	37	CCDS32602.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174694	0.57692	.	.	ENSG00000168792	ENST00000307201	T	0.67698	-0.28	5.84	3.81	0.43845	.	0.930570	0.09131	N	0.844335	T	0.66626	0.2808	N	0.22421	0.69	0.09310	N	1	D	0.57571	0.98	P	0.53722	0.733	T	0.58994	-0.7537	10	0.51188	T	0.08	-17.9113	14.2909	0.66278	0.0:0.0:0.7297:0.2703	.	387	Q6UXT9	ABH15_HUMAN	C	387	ENSP00000302657:R387C	ENSP00000302657:R387C	R	-	1	0	ABHD15	24913953	0.052000	0.20516	0.641000	0.29422	0.954000	0.61252	2.244000	0.43124	0.789000	0.33779	-0.182000	0.12963	CGC	ABHD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447796.2		-	ENST00000307201.4	Missense_Mutation	SNP	17 : 27889827 - 27889827 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	425	54
DNAH1	25981	broad.mit.edu	37	3	52383039	52383039	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52383039G>A	ENST00000420323.2	+	13	2503	c.2242G>A	c.(2242-2244)Gcc>Acc	p.A748T		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	748	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCAGGCCTACGCCAAGGAGTA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	136	134			NA	NA	3		NA											NA				52383039		2190	4282	6472	SO:0001583	missense			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841	25981	25981		Axonemal dyneins	2940	protein-coding gene	gene with protein product		603332	dynein, axonemal, heavy polypeptide 1		NA	8812413, 9256245	Standard	NM_015512	NM_015512	NA	Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.2242G>A	3.37:g.52383039G>A	ENSP00000401514:p.Ala748Thr	NA	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371925	0.61624	.	.	ENSG00000114841	ENST00000420323	T	0.24151	1.87	5.24	4.33	0.51752	.	0.133352	0.33457	N	0.004882	T	0.38719	0.1051	M	0.83012	2.62	0.43050	D	0.994657	P;D	0.53619	0.668;0.961	B;P	0.48873	0.158;0.593	T	0.39502	-0.9611	10	0.52906	T	0.07	.	10.3996	0.44222	0.0718:0.0:0.7944:0.1338	.	748;748	C9JXH6;Q9P2D7-3	.;.	T	748	ENSP00000401514:A748T	ENSP00000401514:A748T	A	+	1	0	DNAH1	52358079	1.000000	0.71417	0.995000	0.50966	0.521000	0.34408	3.970000	0.56824	2.454000	0.82982	0.655000	0.94253	GCC	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350816.1		+	ENST00000420323.2	Missense_Mutation	SNP	3 : 52383039 - 52383039 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	365	64
DYNC1H1	1778	broad.mit.edu	37	14	102510214	102510214	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102510214T>C	ENST00000360184.4	+	70	12680	c.12516T>C	c.(12514-12516)tcT>tcC	p.S4172S	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4172	AAA 6 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTCACCAGTCTCCCAACGAGC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	81	82			NA	NA	14		NA											NA				102510214		2203	4300	6503	SO:0001819	synonymous_variant			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102	1778	1778		Cytoplasmic dyneins	2961	protein-coding gene	gene with protein product		600112	dynein, cytoplasmic, heavy polypeptide 1	DNECL, DNCL, DNCH1	NA	16260502, 8666668	Standard	NM_001376	NM_001376	NA	Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.12516T>C	14.37:g.102510214T>C		NA	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	37	CCDS9966.1																																																																																			DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414574.1		+	ENST00000360184.4	Silent	SNP	14 : 102510214 - 102510214 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	345	48
ERC1	23085	broad.mit.edu	37	12	1291225	1291225	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1291225G>A	ENST00000536573.2	+	0	941				ERC1_ENST00000546231.2_Silent_p.E670E|ERC1_ENST00000360905.4_Silent_p.E670E|ERC1_ENST00000543086.3_Silent_p.E642E|ERC1_ENST00000355446.5_Silent_p.E670E|ERC1_ENST00000589028.1_Silent_p.E670E|ERC1_ENST00000397203.2_Silent_p.E670E			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	NA					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			ACCTTTCAGAGAAAGAGGTTA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	56	55			NA	NA	12		NA											NA				1291225		2203	4300	6503	SO:0001624	3_prime_UTR_variant			AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805	23085	23085			17072	protein-coding gene	gene with protein product		607127	RAB6 interacting protein 2	RAB6IP2	NA	10697956, 11929610	Standard	NM_015064	NM_178040	NA	Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000536573.2:c.*938G>A	12.37:g.1291225G>A		NA	A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	37																																																																																				ERC1-003	KNOWN	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000397934.4		+	ENST00000536573.2	3'UTR	SNP	12 : 1291225 - 1291225 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	169	16
NTN3	4917	broad.mit.edu	37	16	2523431	2523431	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2523431C>A	ENST00000293973.1	+	5	1523	c.1320C>A	c.(1318-1320)gaC>gaA	p.D440E		NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	440					axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						TCTACCCAGACTGTGACTCGC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	117	115			NA	NA	16		NA											NA				2523431		2198	4300	6498	SO:0001630	splice_region_variant			U86759	CCDS10469.1	16p13.3	2013-03-01	2008-10-29	2008-10-29	ENSG00000162068	ENSG00000162068	4917	4917		Netrins	8030	protein-coding gene	gene with protein product	Netrin-3	602349	netrin 2 (chicken)-like, netrin 2-like (chicken)	NTN2L	NA	9143507, 10366627	Standard	NM_006181	NM_006181	NA	Approved		uc002cqj.3	O00634	OTTHUMG00000128867	ENST00000293973.1:c.1319-1C>A	16.37:g.2523431C>A		NA		37	CCDS10469.1	.	.	.	.	.	.	.	.	.	.	C	1.358	-0.589449	0.03799	.	.	ENSG00000162068	ENST00000293973	T	0.30182	1.54	3.67	1.15	0.20763	Tissue inhibitor of metalloproteinases-like, OB-fold (1);	0.126926	0.50627	D	0.000104	T	0.13500	0.0327	N	0.19112	0.55	0.52099	D	0.999941	B	0.20780	0.048	B	0.15484	0.013	T	0.19910	-1.0291	10	0.05436	T	0.98	.	7.6096	0.28122	0.0:0.6439:0.0:0.3561	.	440	O00634	NET3_HUMAN	E	440	ENSP00000293973:D440E	ENSP00000293973:D440E	D	+	3	2	NTN3	2463432	0.468000	0.25839	0.953000	0.39169	0.345000	0.29048	0.001000	0.13038	0.547000	0.28938	0.306000	0.20318	GAC	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250812.1	Missense_Mutation	+	ENST00000293973.1	Splice_Site	SNP	16 : 2523431 - 2523431 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	827	163
P2RY14	9934	broad.mit.edu	37	3	150931407	150931407	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150931407C>T	ENST00000309170.3	-	3	1010	c.698G>A	c.(697-699)cGc>cAc	p.R233H	P2RY14_ENST00000424796.2_Missense_Mutation_p.R233H|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	233						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAATATGTTGCGGCTAGATTT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	88	87			NA	NA	3		NA											NA				150931407		2203	4300	6503	SO:0001583	missense			D13626	CCDS3156.1	3q21-q25	2012-08-08	2004-07-12	2004-07-14	ENSG00000174944	ENSG00000174944	9934	9934		Purinergic receptors, GPCR / Class A : Purinergic receptors, P2Y	16442	protein-coding gene	gene with protein product		610116	G protein-coupled receptor 105	GPR105	NA		Standard	NM_014879	NM_014879	NA	Approved	KIAA0001	uc003eys.1	Q15391	OTTHUMG00000159859	ENST00000309170.3:c.698G>A	3.37:g.150931407C>T	ENSP00000308361:p.Arg233His	NA	Q8IYT7	37	CCDS3156.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263257	0.39995	.	.	ENSG00000174944	ENST00000309170;ENST00000424796	T;T	0.40225	1.04;1.04	5.9	5.9	0.94986	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.69557	0.3124	M	0.85197	2.74	0.40271	D	0.978282	D	0.89917	1.0	D	0.79108	0.992	T	0.67317	-0.5701	10	0.30854	T	0.27	-24.5079	20.2789	0.98501	0.0:1.0:0.0:0.0	.	233	Q15391	P2Y14_HUMAN	H	233	ENSP00000308361:R233H;ENSP00000408733:R233H	ENSP00000308361:R233H	R	-	2	0	P2RY14	152414097	0.958000	0.32768	1.000000	0.80357	0.496000	0.33645	3.959000	0.56744	2.788000	0.95919	0.650000	0.86243	CGC	P2RY14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357789.1		-	ENST00000309170.3	Missense_Mutation	SNP	3 : 150931407 - 150931407 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	588	117
RAPGEF3	10411	broad.mit.edu	37	12	48134179	48134179	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48134179C>A	ENST00000405493.2	-	22	2315		c.e22-1		RAPGEF3_ENST00000449771.2_Splice_Site|RAPGEF3_ENST00000548919.1_Intron|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000389212.3_Splice_Site|RAPGEF3_ENST00000549151.1_Splice_Site|RAPGEF3_ENST00000171000.4_Splice_Site	NM_001098532.2|NM_006105.5	NP_001092002|NP_006096	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	NA					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CTCCTTGAGGCTGTGAGCAGA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	47	47			NA	NA	12		NA											NA				48134179		2203	4300	6503	SO:0001630	splice_region_variant			AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337	10411	10411			16629	protein-coding gene	gene with protein product	exchange protein directly activated by cAMP 1	606057	RAP guanine-nucleotide-exchange factor (GEF) 3		NA	10777494, 9856955	Standard	NM_006105	NM_001098531	NA	Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000405493.2:c.2106-1G>T	12.37:g.48134179C>A		NA		37	CCDS31784.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584798	0.65992	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000541821;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1893	0.81975	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RAPGEF3	46420446	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.123000	0.77176	2.472000	0.83506	0.644000	0.83932	.	RAPGEF3-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405502.1	Intron	-	ENST00000405493.2	Splice_Site	SNP	12 : 48134179 - 48134179 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	249	43
KCNJ5	3762	broad.mit.edu	37	11	128781835	128781835	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128781835G>A	ENST00000338350.4	+	3	1019	c.667G>A	c.(667-669)Gac>Aac	p.D223N	KCNJ5_ENST00000533599.1_Missense_Mutation_p.D223N|KCNJ5_ENST00000529694.1_Missense_Mutation_p.D223N			P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	223					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CCGGGTGGGCGACCTCCGCAA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)							NA				0													94	94	94			NA	NA	11		NA											NA				128781835		2201	4297	6498	SO:0001583	missense			D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457	3762	3762		Potassium channels, Voltage-gated ion channels / Potassium channels, Inwardly rectifying	6266	protein-coding gene	gene with protein product		600734			NA	16382105	Standard	NM_000890	NM_000890	NA	Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.667G>A	11.37:g.128781835G>A	ENSP00000339960:p.Asp223Asn	NA	B2R744|Q6DK13|Q6DK14|Q92807	37	CCDS8479.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617202	0.46736	.	.	ENSG00000120457	ENST00000529694;ENST00000338350;ENST00000533599	D;D;D	0.90444	-2.67;-2.67;-2.67	5.46	5.46	0.80206	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.91720	0.7382	L	0.28400	0.85	0.51767	D	0.999935	D	0.89917	1.0	D	0.97110	1.0	D	0.87604	0.2499	10	0.09843	T	0.71	.	19.3054	0.94161	0.0:0.0:1.0:0.0	.	223	P48544	IRK5_HUMAN	N	223	ENSP00000433295:D223N;ENSP00000339960:D223N;ENSP00000434266:D223N	ENSP00000339960:D223N	D	+	1	0	KCNJ5	128287045	1.000000	0.71417	0.951000	0.38953	0.824000	0.46624	8.062000	0.89475	2.556000	0.86216	0.561000	0.74099	GAC	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386239.1		+	ENST00000338350.4	Missense_Mutation	SNP	11 : 128781835 - 128781835 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	538	81
DNAJA2	10294	broad.mit.edu	37	16	47001552	47001552	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47001552G>A	ENST00000317089.5	-	5	665	c.450C>T	c.(448-450)ggC>ggT	p.G150G		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	150					positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				CAGACTTTCCGCCTTGGCTAA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													198	159	172			NA	NA	16		NA											NA				47001552		2203	4300	6503	SO:0001819	synonymous_variant			AF116720	CCDS10726.1	16q12.1	2011-09-02			ENSG00000069345	ENSG00000069345	10294	10294		Heat shock proteins / DNAJ (HSP40)	14884	protein-coding gene	gene with protein product		611322			NA	9710638, 11147971	Standard		NM_005880	NA	Approved	HIRIP4, DNAJ, CPR3, DNJ3	uc002eeo.2	O60884	OTTHUMG00000133104	ENST00000317089.5:c.450C>T	16.37:g.47001552G>A		NA	B2R7L7|O14711	37	CCDS10726.1																																																																																			DNAJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256769.2		-	ENST00000317089.5	Silent	SNP	16 : 47001552 - 47001552 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	788	158
ZDHHC1	29800	broad.mit.edu	37	16	67432548	67432548	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67432548C>T	ENST00000348579.2	-	7	1083	c.742G>A	c.(742-744)Gcc>Acc	p.A248T		NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	248						integral to membrane	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		ATGAGCAGGGCGGCCAGGGCC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	37	35			NA	NA	16		NA											NA				67432548		2197	4300	6497	SO:0001583	missense			U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714	29800	29800		Zinc fingers, DHHC-type	17916	protein-coding gene	gene with protein product			chromosome 16 open reading frame 1	C16orf1	NA	10395086	Standard	NM_013304	NM_013304	NA	Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.742G>A	16.37:g.67432548C>T	ENSP00000340299:p.Ala248Thr	NA	O15461	37	CCDS10836.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822471	0.90873	.	.	ENSG00000159714	ENST00000348579	T	0.25085	1.82	5.41	4.46	0.54185	.	0.417736	0.24318	N	0.039579	T	0.36496	0.0969	L	0.49455	1.56	0.29527	N	0.853069	D	0.69078	0.997	P	0.57468	0.821	T	0.19943	-1.0290	10	0.22109	T	0.4	.	13.0988	0.59208	0.0:0.9224:0.0:0.0776	.	248	Q8WTX9	ZDHC1_HUMAN	T	248	ENSP00000340299:A248T	ENSP00000340299:A248T	A	-	1	0	ZDHHC1	65990049	1.000000	0.71417	0.117000	0.21633	0.936000	0.57629	4.549000	0.60726	1.279000	0.44446	0.498000	0.49722	GCC	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268845.1		-	ENST00000348579.2	Missense_Mutation	SNP	16 : 67432548 - 67432548 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	109	25
CUL7	9820	broad.mit.edu	37	6	43016152	43016152	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43016152G>A	ENST00000265348.3	-	8	2066	c.1981C>T	c.(1981-1983)Cgg>Tgg	p.R661W	CUL7_ENST00000535468.1_Missense_Mutation_p.R745W			Q14999	CUL7_HUMAN	cullin 7	661					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGCGGCTGCCGCTGCAGCTGC	0.597		NA											G	3	0.0014	0.002	NA	2184	0.0035	0.9985	,	,	NA	7e-04	NA	NA	NA	0.0017	0.6527	EXOME	NA	NA	0.0013	SNP								NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090	9820	9820			21024	protein-coding gene	gene with protein product		609577	KIAA0076	KIAA0076	NA	12481031, 12904573	Standard	NM_014780	NM_014780	NA	Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.1981C>T	6.37:g.43016152G>A	ENSP00000265348:p.Arg661Trp	NA	Q5T654	37	CCDS4881.1	3	0.0013736263736263737	1	0.0020325203252032522	0	0.0	2	0.0034965034965034965	0	0.0	G	16.85	3.236478	0.58886	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.66099	-0.19;-0.19	4.89	-0.649	0.11461	Armadillo-like helical (1);	3.182340	0.00481	N	0.000140	T	0.40347	0.1113	N	0.22421	0.69	0.39262	D	0.964222	D;D	0.61697	0.987;0.99	P;P	0.51701	0.555;0.677	T	0.18840	-1.0324	10	0.87932	D	0	-13.2376	4.3319	0.11067	0.079:0.1285:0.2622:0.5303	.	745;661	F5H0L1;Q14999	.;CUL7_HUMAN	W	661;745	ENSP00000265348:R661W;ENSP00000438788:R745W	ENSP00000265348:R661W	R	-	1	2	CUL7	43124130	0.001000	0.12720	0.739000	0.30968	0.872000	0.50106	-0.148000	0.10219	-0.379000	0.07906	0.655000	0.94253	CGG	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040575.1		-	ENST00000265348.3	Missense_Mutation	SNP	6 : 43016152 - 43016152 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1481	259
PPT2-EGFL8	100532746	broad.mit.edu	37	6	32130344	32130344	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32130344G>A	ENST00000422437.1	+	8	901		c.e8-1		PPT2_ENST00000395523.1_Splice_Site|PPT2_ENST00000445576.2_Splice_Site|PPT2_ENST00000361568.2_Splice_Site|PPT2_ENST00000437001.2_Splice_Site|PPT2_ENST00000324816.6_Splice_Site|PPT2_ENST00000375143.2_Splice_Site|PPT2_ENST00000493548.1_Splice_Site|PPT2-EGFL8_ENST00000453656.2_Splice_Site|PPT2_ENST00000375137.2_Splice_Site					PPT2-EGFL8 readthrough (NMD candidate)	NA											NA						TCTCTTTGTAGCTTCTTTGGT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	176	170			NA	NA	6		NA											NA				32130344		2203	4300	6503	SO:0001630	splice_region_variant					6p21.32	2013-05-09			ENSG00000258388	ENSG00000258388	100532746	100532746			48343	other	readthrough					NA		Standard		NR_037861	NA	Approved				OTTHUMG00000171245	ENST00000422437.1:c.711-1G>A	6.37:g.32130344G>A		NA		37		.	.	.	.	.	.	.	.	.	.	G	22.6	4.307831	0.81247	.	.	ENSG00000221988	ENST00000361568;ENST00000395523;ENST00000445576;ENST00000324816;ENST00000437001;ENST00000375137;ENST00000375143	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6834	0.62502	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPT2	32238322	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.851000	0.75425	2.685000	0.91497	0.655000	0.94253	.	PPT2-EGFL8-002	KNOWN	basic|appris_candidate_longest|readthrough_transcript	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000412521.1	Intron	+	ENST00000422437.1	Splice_Site	SNP	6 : 32130344 - 32130344 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1459	55
CTSA	5476	broad.mit.edu	37	20	44521862	44521862	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44521862C>T	ENST00000372484.3	+	7	940	c.658C>T	c.(658-660)Ctg>Ttg	p.L220L	CTSA_ENST00000354880.5_Silent_p.L203L|CTSA_ENST00000372459.2_Silent_p.L202L|RP3-337O18.9_ENST00000607703.1_RNA|CTSA_ENST00000191018.5_Silent_p.L202L	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	P10619	PPGB_HUMAN	cathepsin A	202					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TTCACAGGGGCTGGCTGTGGG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,	0,4406		0,0,2203	102	88	93		658,604,607	3.2	1	20		93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	CTSA	NM_000308.2,NM_001127695.1,NM_001167594.1	,,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,,	220/499,202/481,203/482	44521862	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			M22960	CCDS13385.2, CCDS46609.1, CCDS54467.1	20q13.12	2012-02-10	2006-12-05	2006-12-05	ENSG00000064601	ENSG00000064601	5476	5476	3.4.16.5	Cathepsins	9251	protein-coding gene	gene with protein product	carboxypeptidase C, lysosomal protective protein, carboxypeptidase-L, carboxypeptidase Y-like kininase, deamidase, lysosomal carboxypeptidase A, urinary kininase	613111	protective protein for beta-galactosidase (galactosialidosis)	GSL, PPGB	NA	2071143	Standard	NM_000308	NM_000308	NA	Approved		uc002xqh.3	P10619	OTTHUMG00000033078	ENST00000372484.3:c.658C>T	20.37:g.44521862C>T		NA	B2R798|Q561W6|Q5JZH1|Q96KJ2|Q9BR08|Q9BW68	37	CCDS13385.2																																																																																			CTSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080497.1		+	ENST00000372484.3	Silent	SNP	20 : 44521862 - 44521862 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	321	54
KLF11	8462	broad.mit.edu	37	2	10192541	10192541	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10192541C>A	ENST00000305883.1	+	4	1608	c.1446C>A	c.(1444-1446)atC>atA	p.I482I	KLF11_ENST00000535335.1_Silent_p.I465I|KLF11_ENST00000540845.1_Silent_p.I465I	NM_003597.4	NP_003588.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	482					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		CCAAGAAGATCCCAGGCTGGC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(56;431 1507 23687 50789)							NA				0													57	56	56			NA	NA	2		NA											NA				10192541		2203	4300	6503	SO:0001819	synonymous_variant			AF028008	CCDS1668.1, CCDS54333.1	2p25	2013-01-08	2004-11-29	2004-12-01	ENSG00000172059	ENSG00000172059	8462	8462		Kruppel-like transcription factors, Zinc fingers, C2H2-type	11811	protein-coding gene	gene with protein product		603301	TGFB inducible early growth response 2	TIEG2	NA	9748269, 11087666	Standard	NM_003597	NM_001177716	NA	Approved	Tieg3, MODY7	uc002raf.1	O14901	OTTHUMG00000119004	ENST00000305883.1:c.1446C>A	2.37:g.10192541C>A		NA	Q9EPF4	37	CCDS1668.1																																																																																			KLF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239202.3		+	ENST00000305883.1	Silent	SNP	2 : 10192541 - 10192541 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	297	75
LY75-CD302	100526664	broad.mit.edu	37	2	160676380	160676380	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160676380C>T	ENST00000504764.1	-	29	4037	c.4010G>A	c.(4009-4011)aGa>aAa	p.R1337K	LY75_ENST00000554112.1_Missense_Mutation_p.R1337K|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.R1337K|LY75_ENST00000553424.1_Missense_Mutation_p.R1337K|LY75_ENST00000263636.4_Missense_Mutation_p.R1337K	NM_001198759.1	NP_001185688.1	O60449	LY75_HUMAN	LY75-CD302 readthrough	1337	C-type lectin 8.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				NA						TCTTCCTGCTCTCCAATGTGT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	78	77			NA	NA	2		NA											NA				160676380		2202	4300	6502	SO:0001583	missense				CCDS56140.1, CCDS56141.1	2q24.2	2011-04-19			ENSG00000248672	ENSG00000248672	100526664	100526664			38828	other	readthrough					NA		Standard		NM_001198759	NA	Approved		uc002ubb.4		OTTHUMG00000161661	ENST00000504764.1:c.4010G>A	2.37:g.160676380C>T	ENSP00000423463:p.Arg1337Lys	NA	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	37	CCDS56141.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.029604	0.35797	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.07688	3.17;3.17;3.17;3.17;3.17	5.65	3.61	0.41365	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.07548	0.0190	L	0.44542	1.39	0.34409	D	0.696113	B;B;B	0.32302	0.126;0.363;0.018	B;B;B	0.35770	0.058;0.21;0.016	T	0.05321	-1.0892	9	0.02654	T	1	-22.7819	11.0666	0.47979	0.0:0.7978:0.0:0.2022	.	1337;1337;1337	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	K	1337	ENSP00000451511:R1337K;ENSP00000451446:R1337K;ENSP00000263636:R1337K;ENSP00000423463:R1337K;ENSP00000421035:R1337K	ENSP00000423463:R1337K	R	-	2	0	LY75;LY75-CD302	160384626	0.989000	0.36119	0.943000	0.38184	0.975000	0.68041	1.428000	0.34892	1.376000	0.46267	0.591000	0.81541	AGA	LY75-CD302-001	PUTATIVE	basic|appris_principal|readthrough_transcript|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365654.1		-	ENST00000504764.1	Missense_Mutation	SNP	2 : 160676380 - 160676380 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	477	99
MYBPC3	4607	broad.mit.edu	37	11	47371447	47371447	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47371447C>T	ENST00000545968.1	-	5	586	c.532G>A	c.(532-534)Gtg>Atg	p.V178M	MYBPC3_ENST00000399249.2_Missense_Mutation_p.V178M|MYBPC3_ENST00000256993.4_Missense_Mutation_p.V178M	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	178	Ig-like C2-type 1.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GCGCCGGCCACGCGGGCTGAG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	31	29			NA	NA	11		NA											NA				47371447		2071	4202	6273	SO:0001583	missense			X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571	4607	4607		Myosin binding proteins, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	7551	protein-coding gene	gene with protein product		600958	myosin-binding protein C, cardiac	CMH4	NA	7744002, 8358441	Standard		NM_000256	NA	Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.532G>A	11.37:g.47371447C>T	ENSP00000442795:p.Val178Met	NA	Q16410|Q6R2F7|Q9UE27|Q9UM53	37	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427436	0.83667	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.75154	-0.91;-0.91;-0.91	4.8	4.8	0.61643	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88134	0.6355	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.90470	0.4452	9	0.87932	D	0	.	18.2122	0.89874	0.0:1.0:0.0:0.0	.	178	Q14896	MYPC3_HUMAN	M	178	ENSP00000442795:V178M;ENSP00000382193:V178M;ENSP00000256993:V178M	ENSP00000256993:V178M	V	-	1	0	MYBPC3	47328023	1.000000	0.71417	0.827000	0.32855	0.625000	0.37756	4.934000	0.63491	2.385000	0.81259	0.462000	0.41574	GTG	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392271.3		-	ENST00000545968.1	Missense_Mutation	SNP	11 : 47371447 - 47371447 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	77	13
HPS1	3257	broad.mit.edu	37	10	100178003	100178003	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100178003G>A	ENST00000325103.6	-	19	2102	c.1869C>T	c.(1867-1869)ctC>ctT	p.L623L	HPS1_ENST00000361490.4_Silent_p.L623L|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	623					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CGATCATCTGGAGTTTGTACC	0.637		NA							Hermansky-Pudlak syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	94	101			NA	NA	10		NA											NA				100178003		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	HPS, HPS1-8	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521	3257	3257			5163	protein-coding gene	gene with protein product		604982	Hermansky-Pudlak syndrome	HPS	NA	8541858, 7573033	Standard	NM_000195, NM_182637, NM_182638, NM_182639	NM_182639	NA	Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.1869C>T	10.37:g.100178003G>A		NA	A8MRT2|O15402|O15502|Q5TAA3	37	CCDS7475.1																																																																																			HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049776.1		-	ENST00000325103.6	Silent	SNP	10 : 100178003 - 100178003 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	435	21
PDE3A	5139	broad.mit.edu	37	12	20790055	20790055	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20790055G>A	ENST00000359062.3	+	9	2063	c.2023G>A	c.(2023-2025)Gaa>Aaa	p.E675K	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	675					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TCTTGCTCCCGAACCTCTTGT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	83	84			NA	NA	12		NA											NA				20790055		2203	4300	6503	SO:0001583	missense				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	5139	5139	3.1.4.17	Phosphodiesterases	8778	protein-coding gene	gene with protein product		123805			NA	1315035, 10679291	Standard		NM_000921	NA	Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2023G>A	12.37:g.20790055G>A	ENSP00000351957:p.Glu675Lys	NA	O60865|Q13348|Q17RD1	37	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	G	31	5.063574	0.93898	.	.	ENSG00000172572	ENST00000359062	T	0.63255	-0.03	4.79	4.79	0.61399	.	0.000000	0.42964	U	0.000636	T	0.73961	0.3654	L	0.46157	1.445	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	T	0.72805	-0.4182	10	0.39692	T	0.17	.	18.0307	0.89283	0.0:0.0:1.0:0.0	.	675	Q14432	PDE3A_HUMAN	K	675	ENSP00000351957:E675K	ENSP00000351957:E675K	E	+	1	0	PDE3A	20681322	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	6.963000	0.76055	2.487000	0.83934	0.591000	0.81541	GAA	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401756.2		+	ENST00000359062.3	Missense_Mutation	SNP	12 : 20790055 - 20790055 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	268	41
SHQ1	55164	broad.mit.edu	37	3	72890250	72890250	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:72890250C>T	ENST00000325599.8	-	4	571	c.432G>A	c.(430-432)ccG>ccA	p.P144P	SHQ1_ENST00000463369.1_Silent_p.P116P	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	144					ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		AGTGGCACTGCGGATTCAAAG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	163	167			NA	NA	3		NA											NA				72890250		2203	4300	6503	SO:0001819	synonymous_variant			BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736	55164	55164			25543	protein-coding gene	gene with protein product		613663	SHQ1 homolog (S. cerevisiae)		NA	12477932	Standard	NM_018130	NM_018130	NA	Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.432G>A	3.37:g.72890250C>T		NA	Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	37	CCDS33788.1																																																																																			SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352310.1		-	ENST00000325599.8	Silent	SNP	3 : 72890250 - 72890250 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	771	131
SWT1	54823	broad.mit.edu	37	1	185171911	185171911	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:185171911C>A	ENST00000367500.4	+	11	1814	c.1649C>A	c.(1648-1650)cCt>cAt	p.P550H	SWT1_ENST00000367501.3_Missense_Mutation_p.P550H	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	550										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						CCTTGTATTCCTAAGCAACAG	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	87	87			NA	NA	1		NA											NA				185171911		2203	4300	6503	SO:0001583	missense			AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668	54823	54823			16785	protein-coding gene	gene with protein product			chromosome 1 open reading frame 26	C1orf26	NA	11318611, 19127978, 23768067	Standard	NM_017673	NM_017673	NA	Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.1649C>A	1.37:g.185171911C>A	ENSP00000356470:p.Pro550His	NA	Q8NEK9|Q9BZQ7|Q9NXQ0	37	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.785887	0.31593	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.17370	2.28;2.28	5.49	5.49	0.81192	.	0.863528	0.10733	N	0.640423	T	0.11196	0.0273	N	0.08118	0	0.20307	N	0.999918	B	0.14438	0.01	B	0.06405	0.002	T	0.14420	-1.0473	10	0.59425	D	0.04	.	12.9453	0.58369	0.0:0.8373:0.1627:0.0	.	550	Q5T5J6	SWT1_HUMAN	H	550	ENSP00000356471:P550H;ENSP00000356470:P550H	ENSP00000356470:P550H	P	+	2	0	SWT1	183438534	1.000000	0.71417	0.920000	0.36463	0.707000	0.40811	2.423000	0.44705	2.736000	0.93811	0.655000	0.94253	CCT	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085790.1		+	ENST00000367500.4	Missense_Mutation	SNP	1 : 185171911 - 185171911 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	451	82
MAP3K12	7786	broad.mit.edu	37	12	53880791	53880791	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53880791G>A	ENST00000547035.1	-	2	589	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C	MAP3K12_ENST00000267079.2_Missense_Mutation_p.R96C|MAP3K12_ENST00000547488.1_Missense_Mutation_p.R129C|MAP3K12_ENST00000547151.1_5'UTR			Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	96	Protein kinase.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CAGACAGGGCGCAGGCAGCCA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	67	72			NA	NA	12		NA											NA				53880791		2203	4300	6503	SO:0001583	missense			U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625	7786	7786		Mitogen-activated protein kinase cascade / Kinase kinase kinases	6851	protein-coding gene	gene with protein product	dual leucine zipper kinase DLK	600447		ZPK	NA	8037767	Standard	NM_006301	NM_006301	NA	Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000547035.1:c.385C>T	12.37:g.53880791G>A	ENSP00000448689:p.Arg129Cys	NA	Q86VQ5|Q8WY25	37	CCDS55831.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316940	0.60524	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	T;T;T	0.77489	-1.09;-1.1;-1.1	4.73	4.73	0.59995	.	0.000000	0.42821	D	0.000645	T	0.78848	0.4348	L	0.27053	0.805	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;P	0.67900	0.954;0.899	T	0.80710	-0.1261	10	0.87932	D	0	.	10.797	0.46466	0.0:0.0:0.6951:0.3049	.	129;96	G3V1Y2;Q12852	.;M3K12_HUMAN	C	96;129;129	ENSP00000267079:R96C;ENSP00000449038:R129C;ENSP00000448689:R129C	ENSP00000267079:R96C	R	-	1	0	MAP3K12	52167058	0.958000	0.32768	1.000000	0.80357	0.994000	0.84299	1.747000	0.38298	2.353000	0.79882	0.462000	0.41574	CGC	MAP3K12-005	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406270.1		-	ENST00000547035.1	Missense_Mutation	SNP	12 : 53880791 - 53880791 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	466	84
RING1	6015	broad.mit.edu	37	6	33179292	33179292	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33179292G>A	ENST00000374656.4	+	5	1021	c.813G>A	c.(811-813)ctG>ctA	p.L271L	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	271	Necessary for interaction with CBX2 (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						CCCACCCCCTGCTCGTGGAGA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	26	25			NA	NA	6		NA											NA				33179292		1262	2567	3829	SO:0001819	synonymous_variant				CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227	6015	6015		RING-type (C3HC4) zinc fingers	10018	protein-coding gene	gene with protein product		602045			NA	1906426	Standard		NM_002931	NA	Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.813G>A	6.37:g.33179292G>A		NA	Q5JP96|Q5SQW2|Q86V19	37	CCDS34424.1																																																																																			RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076609.2		+	ENST00000374656.4	Silent	SNP	6 : 33179292 - 33179292 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	249	51
CENPB	1059	broad.mit.edu	37	20	3766779	3766779	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3766779C>T	ENST00000379751.4	-	1	558	c.352G>A	c.(352-354)Gcc>Acc	p.A118T		NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	118	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CCGTTGGAGGCGGTGAAGTCG	0.731		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	40	38			NA	NA	20		NA											NA				3766779		2202	4296	6498	SO:0001583	missense			X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817	1059	1059			1852	protein-coding gene	gene with protein product		117140	centromere protein B (80kD)		NA	8406460, 11884609	Standard	NM_001810	NM_001810	NA	Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.352G>A	20.37:g.3766779C>T	ENSP00000369075:p.Ala118Thr	NA		37	CCDS13064.1	.	.	.	.	.	.	.	.	.	.	c	19.84	3.902606	0.72754	.	.	ENSG00000125817	ENST00000379751	T	0.27104	1.69	3.34	2.36	0.29203	Homeodomain-related (1);Pogo transposase / Cenp-B / PDC2, DNA-binding HTH domain (3);Homeodomain-like (1);	0.249803	0.20833	U	0.084857	T	0.50701	0.1631	M	0.85945	2.785	0.33894	D	0.637715	D	0.89917	1.0	D	0.78314	0.991	T	0.63242	-0.6681	10	0.49607	T	0.09	-8.036	10.2481	0.43354	0.0:0.7966:0.2034:0.0	.	118	P07199	CENPB_HUMAN	T	118	ENSP00000369075:A118T	ENSP00000369075:A118T	A	-	1	0	CENPB	3714779	0.992000	0.36948	0.988000	0.46212	0.771000	0.43674	1.268000	0.33062	0.367000	0.24454	0.197000	0.17608	GCC	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077772.2		-	ENST00000379751.4	Missense_Mutation	SNP	20 : 3766779 - 3766779 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	531	105
AHNAK	79026	broad.mit.edu	37	11	62293900	62293900	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62293900G>A	ENST00000378024.4	-	5	8263	c.7989C>T	c.(7987-7989)ccC>ccT	p.P2663P	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2663					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGTCAGCCTTGGGCAGCTTCA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	176	176			NA	NA	11		NA											NA				62293900		2202	4299	6501	SO:0001819	synonymous_variant			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942	79026	79026			347	protein-coding gene	gene with protein product	desmoyokin	103390	AHNAK nucleoprotein (desmoyokin)		NA	7987395, 12153988	Standard	NM_024060	NM_024060	NA	Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.7989C>T	11.37:g.62293900G>A		NA		37	CCDS31584.1																																																																																			AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395572.1		-	ENST00000378024.4	Silent	SNP	11 : 62293900 - 62293900 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1432	264
ZFX	7543	broad.mit.edu	37	X	24190912	24190912	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:24190912C>T	ENST00000379177.1	+	5	480	c.53C>T	c.(52-54)gCa>gTa	p.A18V	ZFX_ENST00000540034.1_Missense_Mutation_p.A18V|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000379188.3_Missense_Mutation_p.A18V|ZFX_ENST00000338565.3_Missense_Mutation_p.A18V|ZFX_ENST00000304543.5_Missense_Mutation_p.A18V|ZFX_ENST00000539115.1_Intron	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	18					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TTTTTTGATGCAACAGGTATA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(20;306 562 7346 32868 37983)							NA				0													182	144	157			NA	NA	X		NA											NA				24190912		2203	4300	6503	SO:0001583	missense				CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889	7543	7543		Zinc fingers, C2H2-type	12869	protein-coding gene	gene with protein product		314980			NA		Standard	NM_003410	NM_003410	NA	Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.53C>T	X.37:g.24190912C>T	ENSP00000368475:p.Ala18Val	NA	O43668|Q8WYJ8	37	CCDS14211.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261242	0.39995	.	.	ENSG00000005889	ENST00000428571;ENST00000379188;ENST00000419690;ENST00000536464;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565	T;T;T;T;T	0.08807	3.2;3.2;3.2;3.05;3.21	5.23	4.37	0.52481	.	0.178042	0.37955	N	0.001867	T	0.06781	0.0173	N	0.24115	0.695	0.80722	D	1	B;B;B;B	0.34399	0.0;0.452;0.023;0.049	B;B;B;B	0.33454	0.001;0.164;0.029;0.039	T	0.31833	-0.9929	10	0.62326	D	0.03	-30.729	11.4795	0.50318	0.0:0.9143:0.0:0.0857	.	18;18;18;22	B9EG97;F5H6Z8;P17010;Q59EB9	.;.;ZFX_HUMAN;.	V	18	ENSP00000368486:A18V;ENSP00000368475:A18V;ENSP00000304985:A18V;ENSP00000441382:A18V;ENSP00000343384:A18V	ENSP00000304985:A18V	A	+	2	0	ZFX	24100833	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.357000	0.59436	1.090000	0.41315	0.600000	0.82982	GCA	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056084.1		+	ENST00000379177.1	Missense_Mutation	SNP	X : 24190912 - 24190912 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	238	47
TTC5	91875	broad.mit.edu	37	14	20770011	20770011	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20770011C>A	ENST00000258821.3	-	2	221	c.165G>T	c.(163-165)caG>caT	p.Q55H		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	55					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CTTCCATCTGCTGTAGGGTTT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													250	193	212			NA	NA	14		NA											NA				20770011		2203	4300	6503	SO:0001583	missense			BC008647	CCDS9546.1	14q11.2	2013-01-11			ENSG00000136319	ENSG00000136319	91875	91875		Tetratricopeptide (TTC) repeat domain containing	19274	protein-coding gene	gene with protein product					NA	11511361	Standard	NM_138376	NM_138376	NA	Approved	Strap	uc001vwt.3	Q8N0Z6	OTTHUMG00000029506	ENST00000258821.3:c.165G>T	14.37:g.20770011C>A	ENSP00000258821:p.Gln55His	NA	A8MQ18|Q96HF9	37	CCDS9546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.19|11.19	1.565085|1.565085	0.27915|0.27915	.|.	.|.	ENSG00000136319|ENSG00000136319	ENST00000423949|ENST00000258821;ENST00000553828	.|T	.|0.32272	.|1.46	4.44|4.44	0.638|0.638	0.17742|0.17742	.|Tetratricopeptide-like helical (1);	.|0.349613	.|0.31279	.|N	.|0.007923	T|T	0.14313|0.14313	0.0346|0.0346	N|N	0.19112|0.19112	0.55|0.55	0.28962|0.28962	N|N	0.889745|0.889745	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.07309|0.07309	-1.0779|-1.0779	5|10	.|0.48119	.|T	.|0.1	.|.	1.72|1.72	0.02909|0.02909	0.1481:0.4512:0.1449:0.2559|0.1481:0.4512:0.1449:0.2559	.|.	.|55	.|Q8N0Z6	.|TTC5_HUMAN	S|H	55|55;6	.|ENSP00000258821:Q55H	.|ENSP00000258821:Q55H	A|Q	-|-	1|3	0|2	TTC5|TTC5	19839851|19839851	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	0.827000|0.827000	0.27421|0.27421	0.520000|0.520000	0.28426|0.28426	0.650000|0.650000	0.86243|0.86243	GCA|CAG	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000073529.4		-	ENST00000258821.3	Missense_Mutation	SNP	14 : 20770011 - 20770011 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	462	40
ZDHHC24	254359	broad.mit.edu	37	11	66307147	66307147	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66307147G>T	ENST00000526986.1	-	2	791				ZDHHC24_ENST00000310442.3_Silent_p.S236S			Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24	NA						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						CCAGGTCATAGGAGTGCTGGC	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	24	23			NA	NA	11		NA											NA				66307147		2198	4292	6490	SO:0001627	intron_variant			BC005015	CCDS8143.1	11q13.2	2008-05-02				ENSG00000174165	254359	254359		Zinc fingers, DHHC-type	27387	protein-coding gene	gene with protein product					NA		Standard	NM_207340	NM_207340	NA	Approved		uc001oin.1	Q6UX98		ENST00000526986.1:c.559+4027C>A	11.37:g.66307147G>T		NA	Q6PEW7|Q9BSJ0	37																																																																																				ZDHHC24-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000393088.2		-	ENST00000526986.1	Intron	SNP	11 : 66307147 - 66307147 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	90	27
PKD1	5310	broad.mit.edu	37	16	2153410	2153410	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2153410G>T	ENST00000262304.4	-	23	8856	c.8648C>A	c.(8647-8649)gCt>gAt	p.A2883D	PKD1_ENST00000423118.1_Missense_Mutation_p.A2883D	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2883					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCCCCGGGCAGCCCAGTCCGA	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	37	36			NA	NA	16		NA											NA				2153410		2030	3976	6006	SO:0001583	missense			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710	5310	5310		Voltage-gated ion channels / Transient receptor potential cation channels	9008	protein-coding gene	gene with protein product	polycystin 1, transient receptor potential cation channel, subfamily P, member 1	601313			NA		Standard		NM_001009944	NA	Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.8648C>A	16.37:g.2153410G>T	ENSP00000262304:p.Ala2883Asp	NA	Q15140|Q15141	37	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.063084	0.55432	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.36520	1.25;1.25	4.65	2.58	0.30949	.	0.440473	0.23298	N	0.049704	T	0.33760	0.0874	M	0.65975	2.015	0.09310	N	1	B;P	0.48911	0.013;0.917	B;P	0.46850	0.014;0.529	T	0.13602	-1.0503	10	0.10902	T	0.67	.	5.5778	0.17233	0.1112:0.2203:0.6685:0.0	.	2883;2883	P98161-3;P98161	.;PKD1_HUMAN	D	2883;2883;2218	ENSP00000262304:A2883D;ENSP00000399501:A2883D	ENSP00000262304:A2883D	A	-	2	0	PKD1	2093411	0.000000	0.05858	0.124000	0.21820	0.088000	0.18126	0.548000	0.23314	1.183000	0.42943	0.555000	0.69702	GCT	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341688.1		-	ENST00000262304.4	Missense_Mutation	SNP	16 : 2153410 - 2153410 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1066	213
BTBD8	284697	broad.mit.edu	37	1	92568203	92568203	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92568203G>A	ENST00000370382.3	+	3	788	c.521G>A	c.(520-522)aGa>aAa	p.R174K	BTBD8_ENST00000342818.3_Missense_Mutation_p.R174K|BTBD8_ENST00000540648.1_Missense_Mutation_p.R174K			Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	174						nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		ATCAGTGACAGAGATGATGAT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	69	70			NA	NA	1		NA											NA				92568203		2203	4299	6502	SO:0001583	missense			AY346333	CCDS737.1	1p22.1	2013-01-08			ENSG00000189195	ENSG00000189195	284697	284697		BTB/POZ domain containing	21019	protein-coding gene	gene with protein product					NA	14654994	Standard	NM_183242	NM_183242	NA	Approved		uc001doo.3	Q5XKL5	OTTHUMG00000010289	ENST00000370382.3:c.521G>A	1.37:g.92568203G>A	ENSP00000359408:p.Arg174Lys	NA	Q6V9S5	37		.	.	.	.	.	.	.	.	.	.	G	2.538	-0.306939	0.05458	.	.	ENSG00000189195	ENST00000370382;ENST00000342818;ENST00000540648	T;T;T	0.62232	2.04;0.04;2.03	5.28	-6.7	0.01766	.	1.889290	0.02174	N	0.059959	T	0.08403	0.0209	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06807	-1.0806	10	0.02654	T	1	-16.235	2.599	0.04861	0.4836:0.2246:0.1779:0.114	.	174	Q5XKL5	BTBD8_HUMAN	K	174	ENSP00000359408:R174K;ENSP00000343686:R174K;ENSP00000443397:R174K	ENSP00000343686:R174K	R	+	2	0	BTBD8	92340791	0.000000	0.05858	0.000000	0.03702	0.880000	0.50808	-0.200000	0.09478	-0.834000	0.04239	-0.282000	0.10007	AGA	BTBD8-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000028371.1		+	ENST00000370382.3	Missense_Mutation	SNP	1 : 92568203 - 92568203 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	65
CSPG4	1464	broad.mit.edu	37	15	75981567	75981567	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75981567C>T	ENST00000308508.5	-	3	1931	c.1839G>A	c.(1837-1839)gcG>gcA	p.A613A		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	613	Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2 (By similarity).|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AGAACTCGGTCGCCGGCTCCC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	16	15			NA	NA	15		NA											NA				75981567		2173	4258	6431	SO:0001819	synonymous_variant			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546	1464	1464		Proteoglycans / Cell surface : Other	2466	protein-coding gene	gene with protein product	melanoma-associated chondroitin sulfate proteoglycan	601172	chondroitin sulfate proteoglycan 4 (melanoma-associated)		NA	8790396, 16407841	Standard	NM_001897	NM_001897	NA	Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1839G>A	15.37:g.75981567C>T		NA	D3DW77|Q92675	37	CCDS10284.1																																																																																			CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286472.1		-	ENST00000308508.5	Silent	SNP	15 : 75981567 - 75981567 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	221	38
GPR148	344561	broad.mit.edu	37	2	131486869	131486869	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131486869C>A	ENST00000309926.4	+	1	227	c.145C>A	c.(145-147)Ctg>Atg	p.L49M		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	49				CMPQAASNTSLGLGDLRVPSSMLYWLFLPSSLLAAA -> S S (in Ref. 2; AAP34196).		integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CAGCTCCATGCTGTACTGGCT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	68	71			NA	NA	2		NA											NA				131486869		2203	4300	6503	SO:0001583	missense			AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302	344561	344561		GPCR / Class A : Orphans	23623	protein-coding gene	gene with protein product					NA	12679517	Standard	XM_293092	NM_207364	NA	Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.145C>A	2.37:g.131486869C>A	ENSP00000308908:p.Leu49Met	NA	Q2M369|Q86SP7|Q86U87	37	CCDS2163.1	.	.	.	.	.	.	.	.	.	.	.	16.89	3.247744	0.59103	.	.	ENSG00000173302	ENST00000309926	T	0.38401	1.14	2.77	2.77	0.32553	.	0.000000	0.38381	U	0.001712	T	0.35307	0.0927	N	0.08118	0	0.27795	N	0.942698	D	0.89917	1.0	D	0.83275	0.996	T	0.18618	-1.0331	10	0.32370	T	0.25	-4.6591	11.7043	0.51590	0.0:1.0:0.0:0.0	.	49	Q8TDV2	GP148_HUMAN	M	49	ENSP00000308908:L49M	ENSP00000308908:L49M	L	+	1	2	GPR148	131203339	0.990000	0.36364	0.149000	0.22428	0.139000	0.21198	2.612000	0.46343	1.496000	0.48567	0.462000	0.41574	CTG	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254552.3		+	ENST00000309926.4	Missense_Mutation	SNP	2 : 131486869 - 131486869 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	94
GRK7	131890	broad.mit.edu	37	3	141499500	141499500	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141499500G>T	ENST00000264952.2	+	2	1034	c.897G>T	c.(895-897)caG>caT	p.Q299H		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	299	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						ACTCGGCCCAGATAGCCTGTG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	86	90			NA	NA	3		NA											NA				141499500		2203	4300	6503	SO:0001583	missense				CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124	131890	131890			17031	protein-coding gene	gene with protein product		606987		GPRK7	NA	11717351, 11754336	Standard	NM_139209	NM_139209	NA	Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.897G>T	3.37:g.141499500G>T	ENSP00000264952:p.Gln299His	NA		37	CCDS3120.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196994	0.79015	.	.	ENSG00000114124	ENST00000264952	T	0.34667	1.35	5.1	5.1	0.69264	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.59742	0.2216	M	0.62154	1.92	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63462	-0.6632	10	0.87932	D	0	-21.6541	18.5075	0.90902	0.0:0.0:1.0:0.0	.	299	Q8WTQ7	GRK7_HUMAN	H	299	ENSP00000264952:Q299H	ENSP00000264952:Q299H	Q	+	3	2	GRK7	142982190	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.304000	0.65744	2.357000	0.79964	0.655000	0.94253	CAG	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353168.1		+	ENST00000264952.2	Missense_Mutation	SNP	3 : 141499500 - 141499500 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	293	55
AGPAT4	56895	broad.mit.edu	37	6	161560502	161560502	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161560502T>C	ENST00000320285.4	-	8	1206	c.994A>G	c.(994-996)Agc>Ggc	p.S332G	AGPAT4_ENST00000366911.5_3'UTR|AGPAT4_ENST00000457520.2_Missense_Mutation_p.S170G	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	332					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		GAAGACCCGCTCCTGATCATG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	111	111			NA	NA	6		NA											NA				161560502		2203	4300	6503	SO:0001583	missense			AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	56895	56895	2.3.1.51	1-acylglycerol-3-phosphate O-acyltransferases	20885	protein-coding gene	gene with protein product	lysophosphatidic acid acyltransferase, delta	614795	1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)		NA		Standard	NM_020133	XM_005267052	NA	Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.994A>G	6.37:g.161560502T>C	ENSP00000314036:p.Ser332Gly	NA	Q5TEF0	37	CCDS5280.1	.	.	.	.	.	.	.	.	.	.	T	15.50	2.851995	0.51270	.	.	ENSG00000026652	ENST00000320285;ENST00000457520	T	0.34072	1.38	5.29	5.29	0.74685	.	0.096844	0.64402	D	0.000001	T	0.28962	0.0719	M	0.78456	2.415	0.80722	D	1	B;B	0.29936	0.085;0.262	B;B	0.26864	0.074;0.053	T	0.29119	-1.0022	10	0.66056	D	0.02	-14.4341	15.2173	0.73277	0.0:0.0:0.0:1.0	.	170;332	B4DSF9;Q9NRZ5	.;PLCD_HUMAN	G	332;170	ENSP00000314036:S332G	ENSP00000314036:S332G	S	-	1	0	AGPAT4	161480492	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	6.077000	0.71275	1.988000	0.58038	0.455000	0.32223	AGC	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042983.1		-	ENST00000320285.4	Missense_Mutation	SNP	6 : 161560502 - 161560502 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	847	167
RPS6KA4	8986	broad.mit.edu	37	11	64137787	64137787	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64137787G>A	ENST00000528057.1	+	15	1955	c.1867G>A	c.(1867-1869)Gag>Aag	p.E623K	RPS6KA4_ENST00000294261.4_Missense_Mutation_p.E382K|RPS6KA4_ENST00000334205.4_Missense_Mutation_p.E630K	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	630	Protein kinase 2.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						CAAAATCCGCGAGGGGCGCTT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	56	53			NA	NA	11		NA											NA				64137787		2201	4295	6496	SO:0001583	missense			AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302	8986	8986			10433	protein-coding gene	gene with protein product		603606	ribosomal protein S6 kinase, 90kD, polypeptide 4		NA	9792677, 9687510	Standard	NM_003942	XM_005274379	NA	Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000528057.1:c.1867G>A	11.37:g.64137787G>A	ENSP00000435580:p.Glu623Lys	NA	A8K7Z8|O75585|Q53ES8	37		.	.	.	.	.	.	.	.	.	.	g	16.39	3.111137	0.56398	.	.	ENSG00000162302	ENST00000528057;ENST00000334205;ENST00000294261;ENST00000530504	T;T;T;T	0.64803	-0.12;-0.12;1.13;-0.12	4.3	4.3	0.51218	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.057561	0.64402	D	0.000002	T	0.33206	0.0855	N	0.04018	-0.295	0.25441	N	0.988093	B;B;B;B	0.32350	0.366;0.233;0.206;0.172	B;B;B;B	0.25140	0.019;0.058;0.018;0.036	T	0.15065	-1.0450	10	0.32370	T	0.25	.	8.1795	0.31302	0.1134:0.0:0.8866:0.0	.	382;623;630;624	G3XAA9;E9PJN1;O75676;O75676-2	.;.;KS6A4_HUMAN;.	K	623;630;382;608	ENSP00000435580:E623K;ENSP00000333896:E630K;ENSP00000294261:E382K;ENSP00000432945:E608K	ENSP00000294261:E382K	E	+	1	0	RPS6KA4	63894363	0.998000	0.40836	0.999000	0.59377	0.929000	0.56500	2.285000	0.43487	1.943000	0.56356	0.484000	0.47621	GAG	RPS6KA4-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000385364.1		+	ENST00000528057.1	Missense_Mutation	SNP	11 : 64137787 - 64137787 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	643	104
NKRF	55922	broad.mit.edu	37	X	118724025	118724025	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118724025G>A	ENST00000371527.1	-	2	2015	c.1363C>T	c.(1363-1365)Ctg>Ttg	p.L455L	NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Silent_p.L455L|NKRF_ENST00000542113.1_Silent_p.L470L	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	455					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						GTGTCGTTCAGCGTGCACACG	0.428		NA											G	0	0	NA	NA	1659	NA	0.9999	,	,	NA	2e-04	NA	NA	NA	1e-04	0.0499	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				0													104	97	99			NA	NA	X		NA											NA				118724025		2203	4300	6503	SO:0001819	synonymous_variant			AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416	55922	55922		G patch domain containing	19374	protein-coding gene	gene with protein product		300440	NF-kappaB repressing factor		NA	10562553	Standard	NM_017544	NM_017544	NA	Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1363C>T	X.37:g.118724025G>A		NA	Q4VC41|Q9UJ91	37	CCDS35375.1																																																																																			NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058044.1		-	ENST00000371527.1	Silent	SNP	X : 118724025 - 118724025 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	364	134
LONP1	9361	broad.mit.edu	37	19	5714234	5714234	+	Missense_Mutation	SNP	C	C	T	rs148374055	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5714234C>T	ENST00000360614.3	-	2	635	c.478G>A	c.(478-480)Gcc>Acc	p.A160T	LONP1_ENST00000590729.1_Missense_Mutation_p.A46T|LONP1_ENST00000540670.2_5'UTR|LONP1_ENST00000585374.1_Missense_Mutation_p.A46T|LONP1_ENST00000593119.1_Missense_Mutation_p.A96T	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	160	Lon.				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TAAGGCTGGGCGAGACGAACT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	THR/ALA	0,4406		0,0,2203	124	117	119		478	4.8	1	19	dbSNP_134	119	10,8590	7.7+/-29.5	0,10,4290	yes	missense	LONP1	NM_004793.2	58	0,10,6493	TT,TC,CC	NA	0.1163,0.0,0.0769	possibly-damaging	160/960	5714234	10,12996	2203	4300	6503	SO:0001583	missense			U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365	9361	9361		ATPases / AAA-type, Serine peptidases / Serine peptidases	9479	protein-coding gene	gene with protein product		605490	protease, serine, 15	PRSS15	NA	8248235, 8119403	Standard	NM_004793	NM_004793	NA	Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.478G>A	19.37:g.5714234C>T	ENSP00000353826:p.Ala160Thr	NA	D6W635|P36777|Q9UQ95	37	CCDS12148.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916731	0.92249	0.0	0.001163	ENSG00000196365	ENST00000360614;ENST00000358403	T	0.42513	0.97	4.81	4.81	0.61882	Peptidase S16, lon N-terminal (2);PUA-like domain (1);	0.000000	0.85682	D	0.000000	T	0.54224	0.1845	M	0.75447	2.3	0.58432	D	0.999991	D;P;D	0.54207	0.965;0.907;0.965	P;P;P	0.51055	0.657;0.523;0.657	T	0.57505	-0.7800	10	0.40728	T	0.16	-28.4331	15.4058	0.74877	0.0:1.0:0.0:0.0	.	160;96;160	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	T	160;124	ENSP00000353826:A160T	ENSP00000351177:A124T	A	-	1	0	LONP1	5665234	1.000000	0.71417	0.983000	0.44433	0.923000	0.55619	7.137000	0.77295	2.226000	0.72624	0.555000	0.69702	GCC	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451662.1		-	ENST00000360614.3	Missense_Mutation	SNP	19 : 5714234 - 5714234 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	614	123
HIVEP2	3097	broad.mit.edu	37	6	143081626	143081626	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143081626T>C	ENST00000367604.1	-	8	6438	c.5799A>G	c.(5797-5799)tcA>tcG	p.S1933S	HIVEP2_ENST00000367603.2_Silent_p.S1933S|HIVEP2_ENST00000012134.2_Silent_p.S1933S			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1933					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGGTGCTTCTTGATCTTGTTT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(107;843 1510 13293 16805 42198)							NA				0													63	67	66			NA	NA	6		NA											NA				143081626		2029	4181	6210	SO:0001819	synonymous_variant			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818	3097	3097		Zinc fingers, C2H2-type	4921	protein-coding gene	gene with protein product	c-myc intron binding protein 1	143054	human immunodeficiency virus type I enhancer-binding protein 2		NA	1733857, 2022670	Standard		NM_006734	NA	Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.5799A>G	6.37:g.143081626T>C		NA	Q02646|Q5THT5|Q9NS05	37	CCDS43510.1																																																																																			HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042495.1		-	ENST00000367604.1	Silent	SNP	6 : 143081626 - 143081626 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	261	21
FAM131B	9715	broad.mit.edu	37	7	143053714	143053714	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143053714G>A	ENST00000409408.1	-	6	2636	c.928C>T	c.(928-930)Cgg>Tgg	p.R310W	FAM131B_ENST00000409346.1_Missense_Mutation_p.R310W|FAM131B_ENST00000409222.3_Missense_Mutation_p.R310W|FAM131B_ENST00000443739.2_Missense_Mutation_p.R338W|FAM131B_ENST00000409578.1_Missense_Mutation_p.R326W			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	310										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GACACCTTCCGGCTGAGAGCG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	152	159			NA	NA	7		NA											NA				143053714		2203	4300	6503	SO:0001583	missense			BC045611	CCDS5882.1, CCDS47734.1	7q34	2007-03-20			ENSG00000159784	ENSG00000159784	9715	9715			22202	protein-coding gene	gene with protein product					NA		Standard	NM_014690	NM_014690	NA	Approved	KIAA0773	uc010lpa.3	Q86XD5	OTTHUMG00000152697	ENST00000409408.1:c.928C>T	7.37:g.143053714G>A	ENSP00000387017:p.Arg310Trp	NA	A4D2H6|A8K605|B8ZZN2|D3DXE3|Q7L0D6|Q86T97	37	CCDS5882.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960051	0.74016	.	.	ENSG00000159784	ENST00000443739;ENST00000409578;ENST00000409346;ENST00000452076;ENST00000409408;ENST00000409222	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.81	2.9	0.33743	.	0.131595	0.52532	D	0.000072	T	0.60418	0.2267	M	0.61703	1.905	0.48830	D	0.999715	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.965	T	0.65681	-0.6109	10	0.87932	D	0	-22.6696	15.1848	0.72993	0.0:0.0:0.6325:0.3675	.	326;310	Q86XD5-2;Q86XD5	.;F131B_HUMAN	W	338;326;310;314;310;310	ENSP00000410603:R338W;ENSP00000386568:R326W;ENSP00000386984:R310W;ENSP00000387017:R310W;ENSP00000387147:R310W	ENSP00000387147:R310W	R	-	1	2	FAM131B	142763836	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	3.229000	0.51278	0.775000	0.33450	-0.169000	0.13324	CGG	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328057.1		-	ENST00000409408.1	Missense_Mutation	SNP	7 : 143053714 - 143053714 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1103	88
MYH10	4628	broad.mit.edu	37	17	8448851	8448851	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8448851C>T	ENST00000360416.3	-	13	1484	c.1346G>A	c.(1345-1347)cGc>cAc	p.R449H	MYH10_ENST00000396239.1_Missense_Mutation_p.R439H|MYH10_ENST00000269243.4_Missense_Mutation_p.R439H|MYH10_ENST00000379980.4_Missense_Mutation_p.R455H	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	439	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTATTGATGCGATGAACGAG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	103	104			NA	NA	17		NA											NA				8448851		2203	4300	6503	SO:0001583	missense			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026	4628	4628		Myosins / Myosin superfamily : Class II	7568	protein-coding gene	gene with protein product		160776	myosin, heavy polypeptide 10, non-muscle		NA	1860190	Standard		NM_001256012	NA	Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000360416.3:c.1346G>A	17.37:g.8448851C>T	ENSP00000353590:p.Arg449His	NA	Q12989|Q149N3|Q16087	37	CCDS58515.1	.	.	.	.	.	.	.	.	.	.	C	34	5.383496	0.95967	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42	5.0	5.0	0.66597	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.95636	0.8581	M	0.90425	3.115	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96149	0.9106	10	0.87932	D	0	.	18.844	0.92196	0.0:1.0:0.0:0.0	.	448;449;439	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	H	439;449;439;455	ENSP00000269243:R439H;ENSP00000353590:R449H;ENSP00000379539:R439H;ENSP00000369315:R455H	ENSP00000269243:R439H	R	-	2	0	MYH10	8389576	1.000000	0.71417	0.966000	0.40874	0.961000	0.63080	7.564000	0.82326	2.745000	0.94114	0.655000	0.94253	CGC	MYH10-002	PUTATIVE	not_organism_supported|not_organism_supported|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258891.1		-	ENST00000360416.3	Missense_Mutation	SNP	17 : 8448851 - 8448851 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	546	103
FRZB	2487	broad.mit.edu	37	2	183699691	183699691	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183699691C>T	ENST00000295113.4	-	6	1472	c.863G>A	c.(862-864)cGc>cAc	p.R288H		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	288	NTR.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			CATATCCCAGCGCTGTGAAAT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	80	77	78		863	5.6	1	2		78	0,8600		0,0,4300	no	missense-near-splice	FRZB	NM_001463.3	29	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging	288/326	183699691	1,13005	2203	4300	6503	SO:0001630	splice_region_variant			U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998	2487	2487		Secreted frizzled-related proteins	3959	protein-coding gene	gene with protein product		605083			NA	8824257, 9118218	Standard	NM_001463	NM_001463	NA	Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.862-1G>A	2.37:g.183699691C>T		NA	O00181|Q99686	37	CCDS2286.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447749	0.84101	2.27E-4	0.0	ENSG00000162998	ENST00000295113	T	0.25579	1.79	5.6	5.6	0.85130	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.000000	0.85682	D	0.000000	T	0.45915	0.1366	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.34453	-0.9828	10	0.72032	D	0.01	.	19.628	0.95687	0.0:1.0:0.0:0.0	.	288	Q92765	SFRP3_HUMAN	H	288	ENSP00000295113:R288H	ENSP00000295113:R288H	R	-	2	0	FRZB	183407936	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.359000	0.66074	2.648000	0.89879	0.650000	0.86243	CGC	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255808.1	Missense_Mutation	-	ENST00000295113.4	Splice_Site	SNP	2 : 183699691 - 183699691 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	513	119
GPR125	166647	broad.mit.edu	37	4	22422568	22422568	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22422568C>A	ENST00000334304.5	-	12	2019	c.1750G>T	c.(1750-1752)Gat>Tat	p.D584Y	GPR125_ENST00000508133.1_Missense_Mutation_p.D358Y|GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000502482.1_Missense_Mutation_p.D584Y	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	584					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AGCTGCTTATCCAGGTTTCCC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													213	218	216			NA	NA	4		NA											NA				22422568		2203	4300	6503	SO:0001583	missense			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990	166647	166647		-, GPCR / Class B : Orphans, Immunoglobulin superfamily / I-set domain containing	13839	protein-coding gene	gene with protein product		612303			NA	12565841	Standard		NM_145290	NA	Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.1750G>T	4.37:g.22422568C>A	ENSP00000334952:p.Asp584Tyr	NA	Q6UXK9|Q86SQ5|Q8TC55	37	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070604	0.76301	.	.	ENSG00000152990	ENST00000334304;ENST00000508133;ENST00000502482	T;T	0.65364	0.42;-0.15	5.1	5.1	0.69264	.	0.106348	0.64402	D	0.000006	T	0.77519	0.4142	M	0.61703	1.905	0.80722	D	1	B;D;D;P	0.76494	0.063;0.999;0.997;0.769	B;D;D;B	0.71414	0.05;0.973;0.923;0.384	T	0.79820	-0.1642	10	0.87932	D	0	-33.5045	18.8818	0.92358	0.0:1.0:0.0:0.0	.	459;584;358;584	Q8IWK6-3;Q8IWK6-2;Q8IWK6-4;Q8IWK6	.;.;.;GP125_HUMAN	Y	584;358;584	ENSP00000334952:D584Y;ENSP00000421006:D584Y	ENSP00000334952:D584Y	D	-	1	0	GPR125	22031666	1.000000	0.71417	0.999000	0.59377	0.881000	0.50899	6.591000	0.74090	2.515000	0.84797	0.655000	0.94253	GAT	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362960.3		-	ENST00000334304.5	Missense_Mutation	SNP	4 : 22422568 - 22422568 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1183	38
ZNF70	7621	broad.mit.edu	37	22	24086756	24086756	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24086756G>A	ENST00000341976.3	-	2	1032	c.572C>T	c.(571-573)aCc>aTc	p.T191I		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	191						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						CTTCTCCCCGGTGTGGATGAT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	57	59			NA	NA	22		NA											NA				24086756		2203	4300	6503	SO:0001583	missense			X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792	7621	7621		Zinc fingers, C2H2-type	13140	protein-coding gene	gene with protein product		194544	zinc finger protein 70 (Cos17)		NA	1639391	Standard	NM_021916	NM_021916	NA	Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.572C>T	22.37:g.24086756G>A	ENSP00000339314:p.Thr191Ile	NA		37	CCDS13812.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.687932	0.68271	.	.	ENSG00000187792	ENST00000341976	T	0.25749	1.78	3.49	3.49	0.39957	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42494	0.1205	L	0.46947	1.48	0.39116	D	0.961569	D	0.89917	1.0	D	0.79784	0.993	T	0.45673	-0.9245	9	0.87932	D	0	-18.761	13.3553	0.60625	0.0:0.0:1.0:0.0	.	191	Q9UC06	ZNF70_HUMAN	I	191	ENSP00000339314:T191I	ENSP00000339314:T191I	T	-	2	0	ZNF70	22416756	1.000000	0.71417	0.972000	0.41901	0.736000	0.42039	7.233000	0.78125	2.269000	0.75478	0.558000	0.71614	ACC	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319881.1		-	ENST00000341976.3	Missense_Mutation	SNP	22 : 24086756 - 24086756 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	46
ALDH9A1	223	broad.mit.edu	37	1	165634286	165634286	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:165634286C>A	ENST00000354775.4	-	10	1735	c.1431G>T	c.(1429-1431)gtG>gtT	p.V477V	ALDH9A1_ENST00000538148.1_Silent_p.V383V	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	453					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	AGGGCAACTCCACTGGGCTGA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(179;1583 2014 18106 33801 42447)							NA				0													114	96	102			NA	NA	1		NA											NA				165634286		2203	4300	6503	SO:0001819	synonymous_variant			U34252	CCDS1250.2	1q22-q23	2008-02-05			ENSG00000143149	ENSG00000143149	223	223		Aldehyde dehydrogenases	412	protein-coding gene	gene with protein product		602733		ALDH7, ALDH4, ALDH9	NA	8112751, 8786138	Standard		NM_000696	NA	Approved	E3	uc001gdh.1	P49189	OTTHUMG00000034677	ENST00000354775.4:c.1431G>T	1.37:g.165634286C>A		NA	B2R6X1|Q5VV90|Q6LCL1|Q9NZT7	37	CCDS1250.2																																																																																			ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083899.1		-	ENST00000354775.4	Silent	SNP	1 : 165634286 - 165634286 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	363	46
HIATL1	84641	broad.mit.edu	37	9	97220650	97220650	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:97220650C>T	ENST00000375344.3	+	11	1442	c.1173C>T	c.(1171-1173)ggC>ggT	p.G391G	HIATL1_ENST00000428393.2_Missense_Mutation_p.P294S	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	391					transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				TATGCAATGGCCTGGGGCCAG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(77;1260 1915 1973 10423)							NA				0													135	130	131			NA	NA	9		NA											NA				97220650		2203	4300	6503	SO:0001819	synonymous_variant			AK027659	CCDS6710.2	9q22.32	2009-12-04			ENSG00000148110	ENSG00000148110	84641	84641			23376	protein-coding gene	gene with protein product					NA		Standard	NM_032558	XM_005252277	NA	Approved	FLJ14753	uc004aur.3	Q5SR56	OTTHUMG00000020265	ENST00000375344.3:c.1173C>T	9.37:g.97220650C>T		NA	Q3KQT4|Q53GU5|Q8WU95|Q96SM4	37	CCDS6710.2	.	.	.	.	.	.	.	.	.	.	C	11.71	1.718586	0.30503	.	.	ENSG00000148110	ENST00000277183;ENST00000428393	T	0.50001	0.76	5.0	4.07	0.47477	.	.	.	.	.	T	0.34832	0.0911	.	.	.	0.26123	N	0.980522	B	0.02656	0.0	B	0.04013	0.001	T	0.27434	-1.0074	8	0.87932	D	0	-8.4171	5.6709	0.17721	0.0:0.6882:0.1983:0.1135	.	294	B4DUE6	.	S	96;294	ENSP00000405909:P294S	ENSP00000277183:P96S	P	+	1	0	HIATL1	96260471	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.664000	0.25068	1.395000	0.46643	0.655000	0.94253	CCT	HIATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053184.1		+	ENST00000375344.3	Silent	SNP	9 : 97220650 - 97220650 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	512	83
MFAP3	4238	broad.mit.edu	37	5	153433216	153433216	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:153433216A>G	ENST00000436816.1	+	3	1251	c.1032A>G	c.(1030-1032)ggA>ggG	p.G344G	MFAP3_ENST00000439768.2_Silent_p.G198G|MFAP3_ENST00000322602.5_Silent_p.G344G	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	344						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		ATGATATAGGATCTGCAGAAT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	90	91			NA	NA	5		NA											NA				153433216		2203	4300	6503	SO:0001819	synonymous_variant				CCDS4324.1, CCDS47319.1	5q32-q33.2	2013-01-11			ENSG00000037749	ENSG00000037749	4238	4238		Immunoglobulin superfamily / I-set domain containing	7034	protein-coding gene	gene with protein product		600491			NA	7782085	Standard	NM_005927	NM_005927	NA	Approved		uc010jib.2	P55082	OTTHUMG00000130149	ENST00000436816.1:c.1032A>G	5.37:g.153433216A>G		NA	B2RDK0|Q9NXA7	37	CCDS4324.1																																																																																			MFAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252457.2		+	ENST00000436816.1	Silent	SNP	5 : 153433216 - 153433216 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	658	137
SOX5	6660	broad.mit.edu	37	12	23716316	23716316	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:23716316G>T	ENST00000546136.1	-	10	1327	c.1325C>A	c.(1324-1326)gCt>gAt	p.A442D	SOX5_ENST00000451604.2_Missense_Mutation_p.A455D|SOX5_ENST00000381381.2_Intron|SOX5_ENST00000545921.1_Missense_Mutation_p.A445D|SOX5_ENST00000309359.1_Missense_Mutation_p.A442D|SOX5_ENST00000396007.2_Missense_Mutation_p.A69D|SOX5_ENST00000537393.1_Missense_Mutation_p.A420D|SOX5_ENST00000541536.1_Intron			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	455					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CTTGGTGACAGCATCATGGTC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	142	150			NA	NA	12		NA											NA				23716316		2203	4300	6503	SO:0001583	missense			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532	6660	6660		SRY (sex determining region Y)-boxes	11201	protein-coding gene	gene with protein product		604975			NA	8812465	Standard	NM_006940	NM_006940	NA	Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000546136.1:c.1325C>A	12.37:g.23716316G>T	ENSP00000437487:p.Ala442Asp	NA	Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	37	CCDS44844.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206963	0.79127	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000396007;ENST00000545921	T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7	6.03	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.69646	0.3134	M	0.79258	2.445	0.80722	D	1	D;D;D	0.76494	0.996;0.992;0.999	D;P;D	0.85130	0.931;0.856;0.997	T	0.74645	-0.3596	10	0.87932	D	0	.	15.1758	0.72910	0.0671:0.0:0.9328:0.0	.	420;455;69	F5H0I3;P35711;P35711-3	.;SOX5_HUMAN;.	D	442;442;455;407;420;69;445	ENSP00000437487:A442D;ENSP00000308927:A442D;ENSP00000398273:A455D;ENSP00000439832:A420D;ENSP00000379328:A69D;ENSP00000443520:A445D	ENSP00000308927:A442D	A	-	2	0	SOX5	23607583	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.458000	0.97634	1.558000	0.49541	0.655000	0.94253	GCT	SOX5-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402005.2		-	ENST00000546136.1	Missense_Mutation	SNP	12 : 23716316 - 23716316 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	698	130
MYO1F	4542	broad.mit.edu	37	19	8595095	8595095	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8595095G>A	ENST00000338257.8	-	21	2580	c.2313C>T	c.(2311-2313)taC>taT	p.Y771Y		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	771						unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AGCGGCGGTCGTACTTGGTGA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4320		0,0,2160	67	78	74		2313	-3.2	1	19		74	6,8438		0,6,4216	no	coding-synonymous	MYO1F	NM_012335.3		0,6,6376	AA,AG,GG	NA	0.0711,0.0,0.047		771/1099	8595095	6,12758	2160	4222	6382	SO:0001819	synonymous_variant			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347	4542	4542		Myosins / Myosin superfamily : Class I	7600	protein-coding gene	gene with protein product		601480			NA	9119401, 8884266	Standard		NM_012335	NA	Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.2313C>T	19.37:g.8595095G>A		NA	Q8WWN7	37	CCDS42494.1																																																																																			MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342716.2		-	ENST00000338257.8	Silent	SNP	19 : 8595095 - 8595095 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	887	174
VPS33B	26276	broad.mit.edu	37	15	91548319	91548319	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91548319C>T	ENST00000333371.3	-	15	1489	c.1136G>A	c.(1135-1137)aGc>aAc	p.S379N	VPS33B_ENST00000535843.1_Missense_Mutation_p.S288N|VPS33B_ENST00000535906.1_Missense_Mutation_p.S352N	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	379					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					GTAGCTGGTGCTCTCCCGGAT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	99	103			NA	NA	15		NA											NA				91548319		2198	4298	6496	SO:0001583	missense			AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056	26276	26276			12712	protein-coding gene	gene with protein product		608552	vacuolar protein sorting 33B (yeast homolog)		NA	8996080	Standard	NM_018668	XM_005254887	NA	Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.1136G>A	15.37:g.91548319C>T	ENSP00000327650:p.Ser379Asn	NA	Q96K14|Q9NRP6|Q9NSF3	37	CCDS10369.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742781	0.69418	.	.	ENSG00000184056	ENST00000333371;ENST00000535906;ENST00000535843;ENST00000537510	T;T;T	0.76578	-1.03;-1.03;-1.03	6.04	6.04	0.98038	.	0.124870	0.85682	D	0.000000	T	0.72661	0.3488	L	0.46157	1.445	0.50313	D	0.999867	B;B	0.15719	0.011;0.014	B;B	0.15870	0.008;0.014	T	0.65508	-0.6151	10	0.17369	T	0.5	-21.0209	18.3522	0.90342	0.0:1.0:0.0:0.0	.	352;379	F5H008;Q9H267	.;VP33B_HUMAN	N	379;352;288;334	ENSP00000327650:S379N;ENSP00000444053:S352N;ENSP00000446267:S288N	ENSP00000327650:S379N	S	-	2	0	VPS33B	89349323	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	6.517000	0.73759	2.873000	0.98535	0.561000	0.74099	AGC	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313496.1		-	ENST00000333371.3	Missense_Mutation	SNP	15 : 91548319 - 91548319 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	410	63
C10orf2	56652	broad.mit.edu	37	10	102749183	102749183	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102749183C>T	ENST00000370228.1	+	1	1401	c.1216C>T	c.(1216-1218)Cga>Tga	p.R406*	C10orf2_ENST00000311916.2_Nonsense_Mutation_p.R406*|C10orf2_ENST00000473656.1_Intron	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	406	SF4 helicase.				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GAAGGGACATCGAAAGGGCGA	0.527		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	10		NA											NA				102749183		2203	4300	6503	SO:0001587	stop_gained			AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815	56652	56652			1160	protein-coding gene	gene with protein product	twinkle, T7 helicase-related protein with intramitochondrial nucleoid localization	606075	infantile onset spinocerebellar ataxia (autosomal recessive)	IOSCA	NA	11431692, 10645945, 16135556	Standard	NM_021830	NM_021830	NA	Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000370228.1:c.1216C>T	10.37:g.102749183C>T	ENSP00000359248:p.Arg406*	NA	B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	37	CCDS53570.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536445	0.85812	.	.	ENSG00000107815	ENST00000311916;ENST00000370228	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.2613	19.1729	0.93588	0.0:1.0:0.0:0.0	.	.	.	.	X	406	.	ENSP00000309595:R406X	R	+	1	2	C10orf2	102739173	1.000000	0.71417	1.000000	0.80357	0.047000	0.14425	4.853000	0.62911	2.873000	0.98535	0.563000	0.77884	CGA	C10orf2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049887.1		+	ENST00000370228.1	Nonsense_Mutation	SNP	10 : 102749183 - 102749183 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	451	82
HSPD1	3329	broad.mit.edu	37	2	198363569	198363569	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198363569G>A	ENST00000388968.3	-	2	271	c.4C>T	c.(4-6)Ctt>Ttt	p.L2F	HSPD1_ENST00000345042.2_Missense_Mutation_p.L2F|HSPD1_ENST00000544407.1_Missense_Mutation_p.L2F	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	2					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			GGTAACCGAAGCATTTCTGGG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	37	38			NA	NA	2		NA											NA				198363569		2203	4300	6503	SO:0001583	missense			M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381	3329	3329		Heat Shock Proteins / Chaperonins	5261	protein-coding gene	gene with protein product		118190	heat shock 60kD protein 1 (chaperonin), spastic paraplegia 13 (autosomal dominant)	SPG13	NA	1980192, 11898127	Standard	NM_002156	NM_002156	NA	Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.4C>T	2.37:g.198363569G>A	ENSP00000373620:p.Leu2Phe	NA	B2R5M6|Q38L19|Q9UCR6	37	CCDS33357.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962992	0.53507	.	.	ENSG00000144381	ENST00000388968;ENST00000345042;ENST00000430176;ENST00000452200;ENST00000544407;ENST00000426480;ENST00000428204;ENST00000439605;ENST00000418022	T;T;T;T;T;T;T;T;T	0.77358	-0.45;-0.45;-0.1;-0.1;-0.1;-0.83;-1.07;-1.07;-1.09	4.87	4.87	0.63330	.	0.059874	0.64402	D	0.000002	T	0.59824	0.2222	N	0.04724	-0.175	0.53688	D	0.999974	B;B;B;B	0.13145	0.007;0.001;0.001;0.002	B;B;B;B	0.15052	0.012;0.005;0.005;0.003	T	0.55866	-0.8073	10	0.15952	T	0.53	-4.9447	18.3608	0.90374	0.0:0.0:1.0:0.0	.	2;2;2;2	B7Z712;B7Z597;B3GQS7;P10809	.;.;.;CH60_HUMAN	F	2;2;2;2;2;44;2;2;2	ENSP00000373620:L2F;ENSP00000340019:L2F;ENSP00000393670:L2F;ENSP00000412717:L2F;ENSP00000441296:L2F;ENSP00000414446:L44F;ENSP00000396460:L2F;ENSP00000402478:L2F;ENSP00000412227:L2F	ENSP00000340019:L2F	L	-	1	0	HSPD1	198071814	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	6.311000	0.72835	2.414000	0.81942	0.585000	0.79938	CTT	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335324.2		-	ENST00000388968.3	Missense_Mutation	SNP	2 : 198363569 - 198363569 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	186	39
ZNF462	58499	broad.mit.edu	37	9	109686536	109686536	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109686536C>T	ENST00000277225.5	+	3	632	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	ZNF462_ENST00000457913.1_Missense_Mutation_p.R115C			Q96JM2	ZN462_HUMAN	zinc finger protein 462	115					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R115S(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GTTCTGTGTACGCTACTTCAG	0.473		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)											87	82	84			NA	NA	9		NA											NA				109686536		2203	4300	6503	SO:0001583	missense			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143	58499	58499		Zinc fingers, C2H2-type	21684	protein-coding gene	gene with protein product					NA		Standard	NM_021224	NM_021224	NA	Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.343C>T	9.37:g.109686536C>T	ENSP00000277225:p.Arg115Cys	NA	Q5T0T4|Q8N408	37	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241105	0.58995	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.10288	2.89;3.36	5.56	5.56	0.83823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.30727	0.0774	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00254	-1.1874	9	.	.	.	.	19.525	0.95201	0.0:1.0:0.0:0.0	.	115	Q96JM2	ZN462_HUMAN	C	115	ENSP00000277225:R115C;ENSP00000414570:R115C	.	R	+	1	0	ZNF462	108726357	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.411000	0.80078	2.628000	0.89032	0.467000	0.42956	CGC	ZNF462-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053532.2		+	ENST00000277225.5	Missense_Mutation	SNP	9 : 109686536 - 109686536 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	54
KCNQ2	3785	broad.mit.edu	37	20	62065214	62065214	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62065214G>T	ENST00000359125.2	-	8	1240	c.1066C>A	c.(1066-1068)Ctg>Atg	p.L356M	KCNQ2_ENST00000344462.4_Missense_Mutation_p.L356M|KCNQ2_ENST00000344425.5_Missense_Mutation_p.L356M|KCNQ2_ENST00000370224.1_Missense_Mutation_p.L356M|KCNQ2_ENST00000357249.2_Missense_Mutation_p.L356M|KCNQ2_ENST00000359689.1_Missense_Mutation_p.L356M|KCNQ2_ENST00000360480.3_Missense_Mutation_p.L356M|KCNQ2_ENST00000354587.3_Missense_Mutation_p.L356M|KCNQ2_ENST00000482957.1_5'UTR	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	356					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GTGGAGTGCAGGTCTGTGCGC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	106	114			NA	NA	20		NA											NA				62065214		2203	4300	6503	SO:0001583	missense			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043	3785	3785		Potassium channels, Voltage-gated ion channels / Potassium channels	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1	NA	9425895, 16382104	Standard	NM_172109	NM_172107	NA	Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1066C>A	20.37:g.62065214G>T	ENSP00000352035:p.Leu356Met	NA	O43796|O75580|O95845|Q4VXP4|Q5VYT8|Q96J59|Q99454	37	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720439	0.89205	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222;ENST00000370221;ENST00000344425	D;D;D;D;D;D;D;D;D;D;D;D	0.99298	-5.47;-5.61;-5.61;-5.45;-5.63;-5.47;-5.51;-5.57;-5.45;-5.53;-5.71;-5.24	4.93	2.97	0.34412	.	0.000000	0.53938	D	0.000054	D	0.98607	0.9534	L	0.42245	1.32	0.51482	D	0.999927	D;B;D;D;D;D	0.62365	0.987;0.451;0.991;0.984;0.958;0.973	P;B;P;P;P;P	0.61800	0.601;0.126;0.894;0.894;0.793;0.786	D	0.98376	1.0556	10	0.72032	D	0.01	-32.1885	10.1405	0.42732	0.1606:0.0:0.8394:0.0	.	356;356;356;356;356;356	B4DEP4;Q53Y30;O43526-3;O43526-2;O43526-4;O43526	.;.;.;.;.;KCNQ2_HUMAN	M	356	ENSP00000349789:L356M;ENSP00000352035:L356M;ENSP00000359246:L356M;ENSP00000346601:L356M;ENSP00000352718:L356M;ENSP00000399612:L356M;ENSP00000353668:L356M;ENSP00000339611:L356M;ENSP00000359244:L356M;ENSP00000359242:L356M;ENSP00000359241:L356M;ENSP00000345523:L356M	ENSP00000345523:L356M	L	-	1	2	KCNQ2	61535658	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	4.238000	0.58688	1.089000	0.41292	0.655000	0.94253	CTG	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080353.1		-	ENST00000359125.2	Missense_Mutation	SNP	20 : 62065214 - 62065214 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	575	109
CFLAR	8837	broad.mit.edu	37	2	201994684	201994684	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201994684G>A	ENST00000342795.5	+	2	476	c.96G>A	c.(94-96)gtG>gtA	p.V32V	CFLAR_ENST00000423241.2_Silent_p.V32V|CFLAR_ENST00000440180.1_Silent_p.V32V|CFLAR_ENST00000457277.1_Silent_p.V32V|CFLAR_ENST00000309955.3_Silent_p.V32V|CFLAR_ENST00000355558.4_Silent_p.V32V|CFLAR_ENST00000395148.2_Silent_p.V32V|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000341582.6_Silent_p.V32V|CFLAR_ENST00000340870.5_Silent_p.V32V|CFLAR_ENST00000341222.6_Silent_p.V32V			O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	32	DED 1.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						CTATAGATGTGGTTCCACCTA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(16;548 657 22190 32864 42338)							NA				0													206	197	200			NA	NA	2		NA											NA				201994684		2203	4300	6503	SO:0001819	synonymous_variant			AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402	8837	8837		Endogenous ligands	1876	protein-coding gene	gene with protein product		603599		CASP8AP1	NA	9208847, 9217161	Standard	NM_003879	NM_003879	NA	Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000342795.5:c.96G>A	2.37:g.201994684G>A		NA	B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	37																																																																																				CFLAR-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000336701.1		+	ENST00000342795.5	Silent	SNP	2 : 201994684 - 201994684 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	986	236
LRRC8E	80131	broad.mit.edu	37	19	7963918	7963918	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7963918G>A	ENST00000306708.6	+	3	612	c.511G>A	c.(511-513)Ggg>Agg	p.G171R	AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	171						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CGAGGTATCCGGGGAGAACCA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	53	51			NA	NA	19		NA											NA				7963918		2203	4300	6503	SO:0001583	missense				CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017	80131	80131			26272	protein-coding gene	gene with protein product		612891			NA	12477932	Standard	NM_025061	NM_025061	NA	Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.511G>A	19.37:g.7963918G>A	ENSP00000306524:p.Gly171Arg	NA	B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	37	CCDS12189.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.405485	0.42715	.	.	ENSG00000171017	ENST00000306708	T	0.26373	1.74	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.40372	0.1114	L	0.42245	1.32	0.48571	D	0.999674	D	0.71674	0.998	P	0.60609	0.877	T	0.07790	-1.0754	10	0.52906	T	0.07	.	16.2508	0.82485	0.0:0.0:1.0:0.0	.	171	Q6NSJ5	LRC8E_HUMAN	R	171	ENSP00000306524:G171R	ENSP00000306524:G171R	G	+	1	0	LRRC8E	7869918	1.000000	0.71417	0.984000	0.44739	0.919000	0.55068	5.465000	0.66725	2.709000	0.92574	0.655000	0.94253	GGG	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461354.1		+	ENST00000306708.6	Missense_Mutation	SNP	19 : 7963918 - 7963918 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	698	141
MGA	23269	broad.mit.edu	37	15	42057138	42057138	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42057138C>T	ENST00000570161.1	+	22	7799	c.7799C>T	c.(7798-7800)cCg>cTg	p.P2600L	MGA_ENST00000566586.1_Missense_Mutation_p.P2391L|MGA_ENST00000545763.1_Missense_Mutation_p.P2391L|MGA_ENST00000389936.4_Missense_Mutation_p.P2561L|MGA_ENST00000219905.7_Missense_Mutation_p.P2600L			Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2561						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GTGATGACTCCGCAAGGGCAA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	119	118			NA	NA	15		NA											NA				42057138		2019	4187	6206	SO:0001583	missense			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197	23269	23269		MAX dimerization proteins, T-boxes	14010	protein-coding gene	gene with protein product			MAX gene associated		NA		Standard	NM_001164273.1	NM_001080541	NA	Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.7799C>T	15.37:g.42057138C>T	ENSP00000457035:p.Pro2600Leu	NA	Q9H8R3|Q9H9N7|Q9UG69|Q9Y4E9	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835652	0.91117	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.86956	-2.16;-2.14;-2.19	5.89	5.89	0.94794	.	0.000000	0.50627	D	0.000118	D	0.89448	0.6718	N	0.24115	0.695	0.46678	D	0.999159	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.90607	0.4549	10	0.87932	D	0	.	17.4121	0.87488	0.0:1.0:0.0:0.0	.	2391;2600	F5H7K2;E7ENI0	.;.	L	2600;2561;2391	ENSP00000219905:P2600L;ENSP00000374586:P2561L;ENSP00000442467:P2391L	ENSP00000219905:P2600L	P	+	2	0	MGA	39844430	0.997000	0.39634	0.998000	0.56505	0.992000	0.81027	4.576000	0.60915	2.797000	0.96272	0.563000	0.77884	CCG	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000420229.1		+	ENST00000570161.1	Missense_Mutation	SNP	15 : 42057138 - 42057138 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	579	53
BTN3A1	11119	broad.mit.edu	37	6	26409847	26409847	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26409847T>C	ENST00000289361.6	+	5	1170	c.802T>C	c.(802-804)Tac>Cac	p.Y268H	BTN3A1_ENST00000425234.2_Missense_Mutation_p.Y268H|BTN3A1_ENST00000414912.2_Missense_Mutation_p.Y216H|BTN3A1_ENST00000476549.2_Missense_Mutation_p.Y268H	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	268					lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GGGAGCCGGTTACTTCCTGTG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	75	72			NA	NA	6		NA											NA				26409847		2203	4300	6503	SO:0001583	missense			U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950	NA	11119		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Butyrophilins	1138	protein-coding gene	gene with protein product		613593			NA	9149941	Standard		NM_007048	NA	Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.802T>C	6.37:g.26409847T>C	ENSP00000289361:p.Tyr268His	NA	A2A278|A8K2C8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	37	CCDS4608.1	.	.	.	.	.	.	.	.	.	.	.	8.709	0.911664	0.17833	.	.	ENSG00000026950	ENST00000476549;ENST00000289361;ENST00000425234;ENST00000414912	T;T;T;T	0.50813	3.81;1.11;3.78;0.73	1.49	1.49	0.22878	.	.	.	.	.	T	0.40862	0.1134	M	0.77616	2.38	0.09310	N	1	P;D;D;P	0.59767	0.956;0.986;0.986;0.906	P;P;P;B	0.54100	0.459;0.742;0.742;0.36	T	0.14531	-1.0469	9	0.51188	T	0.08	.	5.0923	0.14715	0.0:0.0:0.0:1.0	.	216;268;268;268	E9PGB4;O00481-3;O00481-2;O00481	.;.;.;BT3A1_HUMAN	H	268;268;268;216	ENSP00000420010:Y268H;ENSP00000289361:Y268H;ENSP00000396684:Y268H;ENSP00000406667:Y216H	ENSP00000289361:Y268H	Y	+	1	0	BTN3A1	26517826	0.002000	0.14202	0.023000	0.16930	0.033000	0.12548	0.778000	0.26732	0.933000	0.37291	0.491000	0.48974	TAC	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040112.3		+	ENST00000289361.6	Missense_Mutation	SNP	6 : 26409847 - 26409847 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	594	101
PCDH8	5100	broad.mit.edu	37	13	53422316	53422316	+	Missense_Mutation	SNP	C	C	T	rs113194848		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53422316C>T	ENST00000377942.3	-	1	459	c.256G>A	c.(256-258)Ggg>Agg	p.G86R	PCDH8_ENST00000338862.4_Missense_Mutation_p.G86R	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	86	Cadherin 1.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCGGCGTCCCCGACGGTCAGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(36;25 841 9273 49207)							NA				0													39	42	41			NA	NA	13		NA											NA				53422316		2202	4297	6499	SO:0001583	missense			AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099	5100	5100		Cadherins / Protocadherins : Non-clustered	8660	protein-coding gene	gene with protein product		603580			NA	9787079, 9315676	Standard	NM_002590	NM_002590	NA	Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.256G>A	13.37:g.53422316C>T	ENSP00000367177:p.Gly86Arg	NA	B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	37	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962254	0.74016	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.25912	1.77;1.77	4.99	4.99	0.66335	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.41605	D	0.000849	T	0.41789	0.1174	L	0.33624	1.015	0.50039	D	0.999842	D;D	0.89917	1.0;1.0	D;D	0.85130	0.989;0.997	T	0.20338	-1.0278	10	0.41790	T	0.15	.	18.3006	0.90162	0.0:1.0:0.0:0.0	.	86;86	O95206-2;O95206	.;PCDH8_HUMAN	R	86	ENSP00000367177:G86R;ENSP00000341350:G86R	ENSP00000341350:G86R	G	-	1	0	PCDH8	52320317	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.654000	0.46699	2.337000	0.79520	0.561000	0.74099	GGG	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045108.2		-	ENST00000377942.3	Missense_Mutation	SNP	13 : 53422316 - 53422316 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	506	22
SH3RF1	57630	broad.mit.edu	37	4	170051308	170051308	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:170051308C>T	ENST00000284637.9	-	6	1410		c.e6-1		SH3RF1_ENST00000508685.1_Splice_Site	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	NA						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TTATATGAACCTGCCGAGAAA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	26	26			NA	NA	4		NA											NA				170051308		2203	4300	6503	SO:0001630	splice_region_variant			BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447	57630	57630		RING-type (C3HC4) zinc fingers	17650	protein-coding gene	gene with protein product	plenty of SH3 domains		SH3 multiple domains 2	SH3MD2	NA	9482736	Standard	NM_020870	NM_020870	NA	Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.1069-1G>A	4.37:g.170051308C>T		NA	Q05BT2|Q8IW46|Q9HAM2|Q9P234	37	CCDS34099.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877903	0.51801	.	.	ENSG00000154447	ENST00000284637	.	.	.	5.49	4.65	0.58169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2401	0.65952	0.0:0.9284:0.0:0.0716	.	.	.	.	.	-1	.	.	.	-	.	.	SH3RF1	170287883	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	6.941000	0.75922	1.323000	0.45263	-0.142000	0.14014	.	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363382.3	Intron	-	ENST00000284637.9	Splice_Site	SNP	4 : 170051308 - 170051308 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	121	21
CASKIN2	57513	broad.mit.edu	37	17	73500901	73500901	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73500901T>C	ENST00000321617.3	-	11	1770	c.1184A>G	c.(1183-1185)gAc>gGc	p.D395G	CASKIN2_ENST00000433559.2_Missense_Mutation_p.D313G	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	395						cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACCTGGGCTGTCTGGGCTGAG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	27	28			NA	NA	17		NA											NA				73500901		2203	4298	6501	SO:0001583	missense			AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303	57513	57513		Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	18200	protein-coding gene	gene with protein product		612185			NA	12040031	Standard	NM_020753	NM_020753	NA	Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.1184A>G	17.37:g.73500901T>C	ENSP00000325355:p.Asp395Gly	NA	B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	37	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	T	19.75	3.885184	0.72410	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.69435	-0.4;-0.23	4.8	4.8	0.61643	.	0.326389	0.22124	N	0.064290	T	0.46190	0.1380	N	0.24115	0.695	0.80722	D	1	P	0.43750	0.816	B	0.36378	0.223	T	0.40040	-0.9584	10	0.19147	T	0.46	.	10.1333	0.42691	0.0:0.0:0.1677:0.8323	.	395	Q8WXE0	CSKI2_HUMAN	G	395;313	ENSP00000325355:D395G;ENSP00000406963:D313G	ENSP00000325355:D395G	D	-	2	0	CASKIN2	71012496	.	.	1.000000	0.80357	0.994000	0.84299	.	.	2.020000	0.59435	0.459000	0.35465	GAC	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447609.1		-	ENST00000321617.3	Missense_Mutation	SNP	17 : 73500901 - 73500901 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	175	31
SUV420H1	51111	broad.mit.edu	37	11	67925796	67925796	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67925796C>T	ENST00000304363.4	-	11	2370	c.2017G>A	c.(2017-2019)Gtc>Atc	p.V673I		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	673					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GAACAACCGACGGGTGAAGGA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	80	84			NA	NA	11		NA											NA				67925796		2200	4294	6494	SO:0001583	missense			AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066	51111	51111		Chromatin-modifying enzymes / K-methyltransferases	24283	protein-coding gene	gene with protein product		610881			NA	10810093, 11401438	Standard	NM_017635	NM_016028	NA	Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.2017G>A	11.37:g.67925796C>T	ENSP00000305899:p.Val673Ile	NA	B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	37	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.150346	0.57151	.	.	ENSG00000110066	ENST00000304363	T	0.44881	0.91	5.04	4.13	0.48395	.	0.701645	0.13851	N	0.358378	T	0.29524	0.0736	N	0.19112	0.55	0.47476	D	0.999434	B	0.27700	0.186	B	0.17098	0.017	T	0.10154	-1.0642	10	0.59425	D	0.04	-2.9363	13.4694	0.61273	0.0:0.925:0.0:0.075	.	673	Q4FZB7	SV421_HUMAN	I	673	ENSP00000305899:V673I	ENSP00000305899:V673I	V	-	1	0	SUV420H1	67682372	0.001000	0.12720	0.012000	0.15200	0.467000	0.32768	0.865000	0.27940	1.362000	0.46000	-0.339000	0.08088	GTC	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318319.1		-	ENST00000304363.4	Missense_Mutation	SNP	11 : 67925796 - 67925796 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	293	41
KIAA1109	84162	broad.mit.edu	37	4	123277838	123277838	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123277838G>A	ENST00000264501.4	+	84	14936	c.14563G>A	c.(14563-14565)Gtg>Atg	p.V4855M	KIAA1109_ENST00000388738.3_Missense_Mutation_p.V4855M			Q2LD37	K1109_HUMAN	KIAA1109	4855					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CCACATTTGTGTGACTATGGA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	154	156			NA	NA	4		NA											NA				123277838		1909	4124	6033	SO:0001583	missense			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688	84162	84162			26953	protein-coding gene	gene with protein product	fragile site-associated	611565			NA	16386706	Standard	NM_020797	NM_015312	NA	Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.14563G>A	4.37:g.123277838G>A	ENSP00000264501:p.Val4855Met	NA	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	37	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	G	34	5.379860	0.95945	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707;ENST00000431755	T;T;T	0.57436	0.4;0.4;0.4	5.9	5.9	0.94986	Fragile site-associated protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.74145	0.3678	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	T	0.74951	-0.3489	10	0.87932	D	0	.	20.2861	0.98535	0.0:0.0:1.0:0.0	.	4854;4855	Q2LD37-4;Q2LD37	.;K1109_HUMAN	M	4855;4855;1524;456	ENSP00000264501:V4855M;ENSP00000373390:V4855M;ENSP00000410874:V1524M	ENSP00000264501:V4855M	V	+	1	0	KIAA1109	123497288	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.800000	0.96347	0.655000	0.94253	GTG	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316415.1		+	ENST00000264501.4	Missense_Mutation	SNP	4 : 123277838 - 123277838 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	432	73
WDR5	11091	broad.mit.edu	37	9	137019649	137019649	+	Silent	SNP	C	C	T	rs140708390	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137019649C>T	ENST00000358625.3	+	10	864	c.693C>T	c.(691-693)gcC>gcT	p.A231A	WDR5_ENST00000425041.1_Silent_p.A231A	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	231					histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		ACATCCTGGCCGCCACGCTGG	0.617		NA											C	1	5e-04	NA	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	4e-04	0.95	EXOME	NA	NA	4e-04	SNP								NA				0								C	,	18,4388	26.2+/-53.5	0,18,2185	154	141	146		693,693	-8	0.1	9	dbSNP_134	146	2,8598	2.2+/-6.3	0,2,4298	yes	coding-synonymous,coding-synonymous	WDR5	NM_017588.2,NM_052821.3	,	0,20,6483	TT,TC,CC	NA	0.0233,0.4085,0.1538	,	231/335,231/335	137019649	20,12986	2203	4300	6503	SO:0001819	synonymous_variant			AJ011376	CCDS6981.1	9q34	2014-09-03			ENSG00000196363	ENSG00000196363	11091	11091		WD repeat domain containing	12757	protein-coding gene	gene with protein product	SWD3, Set1c WD40 repeat protein, homolog (S. cerevisiae), cilia and flagella associated protein 89	609012			NA	11551928	Standard	NM_052821	XM_005272163	NA	Approved	SWD3, CFAP89	uc004cey.3	P61964	OTTHUMG00000131707	ENST00000358625.3:c.693C>T	9.37:g.137019649C>T		NA	Q91VA5|Q9NWX7|Q9UGP9	37	CCDS6981.1																																																																																			WDR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254621.1		+	ENST00000358625.3	Silent	SNP	9 : 137019649 - 137019649 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1211	216
CCDC88C	440193	broad.mit.edu	37	14	91774720	91774720	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91774720C>T	ENST00000389857.6	-	17	3067	c.2981G>A	c.(2980-2982)cGc>cAc	p.R994H		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	994					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTCTAACTGGCGATTTAGGCT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	138	140			NA	NA	14		NA											NA				91774720		2070	4211	6281	SO:0001583	missense				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133	440193	440193			19967	protein-coding gene	gene with protein product	Dvl-associating protein with a high frequency of leucine residues, spinocerebellar ataxia 40	611204	KIAA1509	KIAA1509	NA	17185515, 25062847	Standard	XM_029353	NM_001080414	NA	Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.2981G>A	14.37:g.91774720C>T	ENSP00000374507:p.Arg994His	NA	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	37	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	C	3.184	-0.167316	0.06461	.	.	ENSG00000015133	ENST00000389857	T	0.14516	2.5	4.53	-1.03	0.10102	.	0.422486	0.19662	N	0.108941	T	0.03095	0.0091	N	0.00801	-1.175	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42361	-0.9456	10	0.33141	T	0.24	-5.3296	4.6717	0.12692	0.1297:0.2315:0.0:0.6388	.	994	Q9P219	DAPLE_HUMAN	H	994	ENSP00000374507:R994H	ENSP00000374507:R994H	R	-	2	0	CCDC88C	90844473	0.997000	0.39634	0.001000	0.08648	0.044000	0.14063	1.276000	0.33156	-0.503000	0.06586	0.313000	0.20887	CGC	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411650.1		-	ENST00000389857.6	Missense_Mutation	SNP	14 : 91774720 - 91774720 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	44
ZNF791	163049	broad.mit.edu	37	19	12738624	12738624	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12738624C>T	ENST00000446165.1	+	0	382				ZNF791_ENST00000343325.4_Missense_Mutation_p.T94I|ZNF791_ENST00000458122.3_Missense_Mutation_p.T62I|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000540038.1_5'UTR			Q3KP31	ZN791_HUMAN	zinc finger protein 791	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						ACGAAGAAGACTGCCGGAGTA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	146	149			NA	NA	19		NA											NA				12738624		2203	4300	6503	SO:0001624	3_prime_UTR_variant			AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875	163049	163049		Zinc fingers, C2H2-type, -	26895	protein-coding gene	gene with protein product					NA		Standard	NM_153358	NM_153358	NA	Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000446165.1:c.*10C>T	19.37:g.12738624C>T		NA	Q8NC99	37		.	.	.	.	.	.	.	.	.	.	C	0.496	-0.873322	0.02570	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122	T;T	0.06294	3.42;3.32	1.22	0.0184	0.14117	.	.	.	.	.	T	0.04227	0.0117	N	0.16656	0.425	0.09310	N	0.999994	B	0.16166	0.016	B	0.19391	0.025	T	0.41034	-0.9531	9	0.62326	D	0.03	.	6.1824	0.20478	0.2991:0.7009:0.0:0.0	.	94	Q3KP31	ZN791_HUMAN	I	94;94;62	ENSP00000342974:T94I;ENSP00000441761:T62I	ENSP00000342974:T94I	T	+	2	0	ZNF791	12599624	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.071000	0.14594	0.052000	0.16007	0.484000	0.47621	ACT	ZNF791-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000344141.1		+	ENST00000446165.1	3'UTR	SNP	19 : 12738624 - 12738624 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	722	174
TBC1D8	11138	broad.mit.edu	37	2	101624689	101624689	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101624689T>C	ENST00000409318.1	-	20	3192	c.3062A>G	c.(3061-3063)gAa>gGa	p.E1021G	RPL31_ENST00000409650.1_Intron|TBC1D8_ENST00000376840.4_Missense_Mutation_p.E1006G|RPL31_ENST00000409038.1_Intron|RPL31_ENST00000409028.4_Intron	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	1006					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						TTCTGGATCTTCATGGAACAT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	37	35			NA	NA	2		NA											NA				101624689		2050	4217	6267	SO:0001583	missense			AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634	11138	11138			17791	protein-coding gene	gene with protein product	BUB2-like protein 1, vascular Rab-GAP/TBC-containing protein				NA	10373574	Standard	NM_007063	NM_001102426	NA	Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000409318.1:c.3062A>G	2.37:g.101624689T>C	ENSP00000386856:p.Glu1021Gly	NA	A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	37		.	.	.	.	.	.	.	.	.	.	T	11.56	1.676379	0.29783	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.03358	3.97;3.96	5.29	5.29	0.74685	.	0.090866	0.47455	D	0.000223	T	0.03477	0.0100	L	0.31804	0.96	0.23809	N	0.996785	B	0.06786	0.001	B	0.08055	0.003	T	0.39375	-0.9617	10	0.31617	T	0.26	-12.8241	9.7618	0.40537	0.0:0.0771:0.0:0.9229	.	1006	O95759	TBCD8_HUMAN	G	1006;1021	ENSP00000366036:E1006G;ENSP00000386856:E1021G	ENSP00000366036:E1006G	E	-	2	0	TBC1D8	100991121	1.000000	0.71417	0.990000	0.47175	0.986000	0.74619	2.879000	0.48522	1.984000	0.57885	0.529000	0.55759	GAA	TBC1D8-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000329176.2		-	ENST00000409318.1	Missense_Mutation	SNP	2 : 101624689 - 101624689 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	172	46
CTCF	10664	broad.mit.edu	37	16	67662366	67662366	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67662366C>A	ENST00000264010.4	+	9	2056	c.1612C>A	c.(1612-1614)Ctc>Atc	p.L538I	CTCF_ENST00000401394.1_Missense_Mutation_p.L210I	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	538					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GAAGCAGCTTCTCGACATGCA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(175;1200 1966 6945 23069 27405)							NA				0													197	163	174			NA	NA	16		NA											NA				67662366		2198	4300	6498	SO:0001583	missense			U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974	10664	10664		Zinc fingers, C2H2-type	13723	protein-coding gene	gene with protein product	11 zinc finger transcriptional repressor	604167			NA	8649389, 18550811	Standard	NM_006565	NM_006565	NA	Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1612C>A	16.37:g.67662366C>A	ENSP00000264010:p.Leu538Ile	NA	Q53XI7	37	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	C	34	5.306403	0.95629	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	T;T	0.68624	-0.34;-0.34	5.72	5.72	0.89469	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000013	D	0.85805	0.5782	M	0.91561	3.22	0.80722	D	1	D;D	0.64830	0.994;0.993	P;D	0.67548	0.888;0.952	D	0.88196	0.2880	10	0.72032	D	0.01	-2.4016	19.488	0.95037	0.0:1.0:0.0:0.0	.	210;538	B5MC38;P49711	.;CTCF_HUMAN	I	538;210	ENSP00000264010:L538I;ENSP00000384707:L210I	ENSP00000264010:L538I	L	+	1	0	CTCF	66219867	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.029000	0.70895	2.702000	0.92279	0.462000	0.41574	CTC	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268870.2		+	ENST00000264010.4	Missense_Mutation	SNP	16 : 67662366 - 67662366 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	734	148
AMBRA1	55626	broad.mit.edu	37	11	46419133	46419133	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46419133G>A	ENST00000458649.2	-	18	4182	c.3764C>T	c.(3763-3765)cCc>cTc	p.P1255L	AMBRA1_ENST00000298834.3_Missense_Mutation_p.P1195L|AMBRA1_ENST00000534300.1_Missense_Mutation_p.P1195L|AMBRA1_ENST00000314845.3_Missense_Mutation_p.P1165L|AMBRA1_ENST00000528950.1_Missense_Mutation_p.P1226L|AMBRA1_ENST00000426438.1_Missense_Mutation_p.P1226L|AMBRA1_ENST00000533727.1_Missense_Mutation_p.P1136L			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1255					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AACAGGAATGGGGACAGGGGA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	67	67			NA	NA	11		NA											NA				46419133		2202	4299	6501	SO:0001583	missense			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497	55626	55626		WD repeat domain containing, DDB1 and CUL4 associated factors	25990	protein-coding gene	gene with protein product	WD repeat domain 94, DDB1 and CUL4 associated factor 3	611359			NA	17622796, 17603510, 17589504	Standard	NM_017749	NM_001267782	NA	Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.3764C>T	11.37:g.46419133G>A	ENSP00000415327:p.Pro1255Leu	NA	A6XN33|D3DQP8|Q86XD6|Q9H8Z0|Q9NXE7	37		.	.	.	.	.	.	.	.	.	.	G	8.631	0.893776	0.17613	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000458649;ENST00000526545;ENST00000528950	T;T;T;T;T;T;T	0.71103	-0.37;-0.54;-0.13;-0.26;-0.13;-0.23;-0.26	4.22	1.13	0.20643	.	0.389476	0.24027	N	0.042225	T	0.48333	0.1494	N	0.19112	0.55	0.27832	N	0.941416	B;B;B;B;B;B	0.33238	0.18;0.275;0.275;0.275;0.403;0.275	B;B;B;B;B;B	0.25291	0.011;0.025;0.025;0.025;0.059;0.025	T	0.45659	-0.9246	10	0.87932	D	0	.	7.394	0.26926	0.0:0.3543:0.463:0.1826	.	1255;1226;1195;1136;1258;1165	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	L	1165;1136;1195;1226;1195;1255;213;1226	ENSP00000318313:P1165L;ENSP00000433372:P1136L;ENSP00000431926:P1195L;ENSP00000410899:P1226L;ENSP00000298834:P1195L;ENSP00000415327:P1255L;ENSP00000433945:P1226L	ENSP00000298834:P1195L	P	-	2	0	AMBRA1	46375709	0.898000	0.30612	0.201000	0.23476	0.011000	0.07611	1.646000	0.37249	0.267000	0.21916	-0.314000	0.08810	CCC	AMBRA1-005	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000390103.1		-	ENST00000458649.2	Missense_Mutation	SNP	11 : 46419133 - 46419133 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	277	16
MSR1	4481	broad.mit.edu	37	8	16026093	16026093	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:16026093T>C	ENST00000445506.2	-	4	621	c.558A>G	c.(556-558)ggA>ggG	p.G186G	MSR1_ENST00000381998.4_Silent_p.G168G|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000350896.3_Silent_p.G168G|MSR1_ENST00000355282.2_Silent_p.G168G|MSR1_ENST00000262101.5_Silent_p.G168G			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	168					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	p.G168G(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CATTCCCATGTCCCTGGACTG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											180	167	171			NA	NA	8		NA											NA				16026093		2203	4300	6503	SO:0001819	synonymous_variant			D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945	NA	4481		CD molecules	7376	protein-coding gene	gene with protein product		153622			NA	2251254	Standard		NM_138715	NA	Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000445506.2:c.558A>G	8.37:g.16026093T>C		NA	D3DSP3|O60505|P21759|Q45F10	37																																																																																				MSR1-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000375985.1		-	ENST00000445506.2	Silent	SNP	8 : 16026093 - 16026093 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	465	87
DSG4	147409	broad.mit.edu	37	18	28983528	28983528	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28983528C>T	ENST00000359747.4	+	11	1596	c.1567C>T	c.(1567-1569)Ccg>Tcg	p.P523S	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.P523S	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	523					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTATGGGTCTCCGTTTACTTT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	135	139			NA	NA	18		NA											NA				28983528		2203	4300	6503	SO:0001583	missense			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065	147409	147409		Cadherins / Major cadherins	21307	protein-coding gene	gene with protein product		607892			NA	12648213	Standard	NM_177986	NM_001134453	NA	Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000359747.4:c.1567C>T	18.37:g.28983528C>T	ENSP00000352785:p.Pro523Ser	NA	A2RUI1|Q6Y9L9|Q8IXV4	37	CCDS45845.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.477402	0.63849	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.62788	0.0;0.0	6.01	6.01	0.97437	Cadherin-like (1);	0.000000	0.34460	N	0.003957	D	0.82774	0.5110	M	0.85859	2.78	0.51767	D	0.999936	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.948	D	0.84109	0.0400	10	0.87932	D	0	.	20.1245	0.97974	0.0:1.0:0.0:0.0	.	523;523	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	S	523	ENSP00000311859:P523S;ENSP00000352785:P523S	ENSP00000311859:P523S	P	+	1	0	DSG4	27237526	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	5.579000	0.67457	2.850000	0.98022	0.655000	0.94253	CCG	DSG4-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447503.1		+	ENST00000359747.4	Missense_Mutation	SNP	18 : 28983528 - 28983528 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	45
ZNF32	7580	broad.mit.edu	37	10	44139542	44139542	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44139542G>A	ENST00000395797.1	-	3	966	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L	ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000374433.2_Silent_p.L260L	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		TGCACAGCCAGACTCCCTCTC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	50	49			NA	NA	10		NA											NA				44139542		2203	4300	6503	SO:0001819	synonymous_variant			U69645	CCDS7206.1	10q22-q25	2013-01-08	2006-05-11		ENSG00000169740	ENSG00000169740	7580	7580		Zinc fingers, C2H2-type	13095	protein-coding gene	gene with protein product		194539	zinc finger protein 32 (KOX 30)		NA		Standard	NM_006973	XM_005271822	NA	Approved	KOX30	uc001jbc.3	P17041	OTTHUMG00000018043	ENST00000395797.1:c.778C>T	10.37:g.44139542G>A		NA	Q92951	37	CCDS7206.1																																																																																			ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047723.1		-	ENST00000395797.1	Silent	SNP	10 : 44139542 - 44139542 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	227	43
AKAP12	9590	broad.mit.edu	37	6	151671445	151671445	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151671445G>A	ENST00000253332.1	+	3	2108	c.1919G>A	c.(1918-1920)aGc>aAc	p.S640N	AKAP12_ENST00000354675.6_Missense_Mutation_p.S542N|AKAP12_ENST00000402676.2_Missense_Mutation_p.S640N|AKAP12_ENST00000359755.5_Missense_Mutation_p.S535N			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	640					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AAGGTCAAGAGCGCTACCTTG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(141;1616 1805 10049 24534 51979)							NA				0													80	76	77			NA	NA	6		NA											NA				151671445		2203	4300	6503	SO:0001583	missense			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016	9590	9590		A-kinase anchor proteins	370	protein-coding gene	gene with protein product	gravin, Src-Suppressed C Kinase Substrate	604698	A kinase (PRKA) anchor protein (gravin) 12		NA	9000000	Standard		NM_144497	NA	Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.1919G>A	6.37:g.151671445G>A	ENSP00000253332:p.Ser640Asn	NA	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	37	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269256	0.80469	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.15603	2.41;2.41;2.43;2.43	5.52	5.52	0.82312	.	0.000000	0.47093	D	0.000244	T	0.33265	0.0857	M	0.73962	2.25	0.42414	D	0.992611	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.993;0.989	T	0.03969	-1.0988	10	0.54805	T	0.06	.	14.6536	0.68817	0.0:0.1452:0.8548:0.0	.	535;542;640	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	N	640;640;542;535	ENSP00000384537:S640N;ENSP00000253332:S640N;ENSP00000346702:S542N;ENSP00000352794:S535N	ENSP00000253332:S640N	S	+	2	0	AKAP12	151713138	0.998000	0.40836	0.872000	0.34217	0.818000	0.46254	2.910000	0.48766	2.591000	0.87537	0.650000	0.86243	AGC	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042712.1		+	ENST00000253332.1	Missense_Mutation	SNP	6 : 151671445 - 151671445 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	239	11
MZT2B	80097	broad.mit.edu	37	2	130948058	130948058	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130948058C>T	ENST00000409255.1	+	4	542	c.516C>T	c.(514-516)agC>agT	p.S172S	MZT2B_ENST00000281871.6_Silent_p.S112S			Q6NZ67	MZT2B_HUMAN	mitotic spindle organizing protein 2B	112						centrosome|gamma-tubulin ring complex|spindle	protein binding			lung(1)	1						ACAAAGGCAGCGCTGCCCTCG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	29	30			NA	NA	2		NA											NA				130948058		2201	4300	6501	SO:0001819	synonymous_variant			BC066296	CCDS2157.1	2q21.1	2013-10-11	2010-07-22	2010-07-22	ENSG00000152082	ENSG00000152082	80097	80097			25886	protein-coding gene	gene with protein product	mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2B	613450	family with sequence similarity 128, member B	FAM128B	NA	20360068	Standard	NM_025029	NM_025029	NA	Approved	FLJ14346, MOZART2B	uc002tqu.3	Q6NZ67	OTTHUMG00000131625	ENST00000409255.1:c.516C>T	2.37:g.130948058C>T		NA	Q96CG4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	0.120|0.120	-1.126970|-1.126970	0.01770|0.01770	.|.	.|.	ENSG00000152082|ENSG00000152082	ENST00000425361|ENST00000455239	.|.	.|.	.|.	3.47|3.47	0.573|0.573	0.17363|0.17363	.|.	.|.	.|.	.|.	.|.	T|T	0.36908|0.36908	0.0984|0.0984	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999993|0.999993	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.31280|0.31280	-0.9949|-0.9949	4|5	.|0.48119	.|T	.|0.1	-5.8906|-5.8906	6.3318|6.3318	0.21274|0.21274	0.0:0.5373:0.0:0.4627|0.0:0.5373:0.0:0.4627	.|.	.|.	.|.	.|.	V|C	76|53	.|.	.|ENSP00000404629:R53C	A|R	+|+	2|1	0|0	MZT2B|MZT2B	130664528|130664528	0.000000|0.000000	0.05858|0.05858	0.071000|0.071000	0.20095|0.20095	0.062000|0.062000	0.15995|0.15995	-0.131000|-0.131000	0.10482|0.10482	-0.004000|-0.004000	0.14419|0.14419	-0.372000|-0.372000	0.07161|0.07161	GCG|CGC	MZT2B-003	NOVEL	not_organism_supported|basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000332319.1		+	ENST00000409255.1	Silent	SNP	2 : 130948058 - 130948058 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	306	87
CA6	765	broad.mit.edu	37	1	9011647	9011647	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9011647G>A	ENST00000377436.3	+	2	259				CA6_ENST00000480186.3_Missense_Mutation_p.R142H|CA6_ENST00000377442.2_Intron|CA6_ENST00000476083.1_Intron|CA6_ENST00000377443.2_Intron	NM_001270500.1	NP_001257429.1	P23280	CAH6_HUMAN	carbonic anhydrase VI	NA					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		TGCGGGCTTCGTGCTGAGGGC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	42	43			NA	NA	1		NA											NA				9011647		876	1991	2867	SO:0001627	intron_variant			M57892	CCDS30578.1, CCDS57970.1, CCDS57971.1	1p36.2	2008-02-05			ENSG00000131686	ENSG00000131686	765	765	4.2.1.1	Carbonic anhydrases	1380	protein-coding gene	gene with protein product		114780			NA	9691177	Standard		NM_001215	NA	Approved		uc031plc.1	P23280	OTTHUMG00000001763	ENST00000377436.3:c.259+2146G>A	1.37:g.9011647G>A		NA	Q96QX8|Q9UF03	37	CCDS57970.1	.	.	.	.	.	.	.	.	.	.	G	9.329	1.059980	0.19987	.	.	ENSG00000131686	ENST00000319474	T	0.35236	1.32	0.839	-1.45	0.08828	.	.	.	.	.	T	0.29355	0.0731	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34601	-0.9822	6	0.66056	D	0.02	.	2.4411	0.04494	0.2516:0.3233:0.4251:0.0	.	.	.	.	H	142	ENSP00000325786:R142H	ENSP00000325786:R142H	R	+	2	0	CA6	8934234	0.000000	0.05858	0.005000	0.12908	0.009000	0.06853	-0.567000	0.05916	-0.590000	0.05866	-0.553000	0.04205	CGT	CA6-005	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407379.1		+	ENST00000377436.3	Intron	SNP	1 : 9011647 - 9011647 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	133	18
PAK7	57144	broad.mit.edu	37	20	9546846	9546846	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:9546846C>T	ENST00000378429.3	-	6	1722	c.1176G>A	c.(1174-1176)tcG>tcA	p.S392S	PAK7_ENST00000353224.5_Silent_p.S392S|PAK7_ENST00000378423.1_Silent_p.S392S	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	392	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.S392S(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AGATGTACTGCGAACTGCTCT	0.597		NA												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)											133	127	129			NA	NA	20		NA											NA				9546846		2203	4300	6503	SO:0001819	synonymous_variant			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349	57144	57144			15916	protein-coding gene	gene with protein product		608038	p21(CDKN1A)-activated kinase 7		NA	11756552, 10574462	Standard		NM_020341	NA	Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1176G>A	20.37:g.9546846C>T		NA	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	37	CCDS13107.1																																																																																			PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077962.1		-	ENST00000378429.3	Silent	SNP	20 : 9546846 - 9546846 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	594	116
CHCHD3	54927	broad.mit.edu	37	7	132481280	132481280	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:132481280G>A	ENST00000262570.5	-	7	727	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C	CHCHD3_ENST00000476546.1_5'UTR|CHCHD3_ENST00000448878.1_Missense_Mutation_p.R200C	NM_017812.2	NP_060282.1	Q9NX63	CHCH3_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 3	195	CHCH.				inner mitochondrial membrane organization|mitochondrial fusion	mitochondrial inner membrane	protein complex scaffold			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						GTGTTCTCACGGTAACACTGA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	120	128			NA	NA	7		NA											NA				132481280		2203	4300	6503	SO:0001583	missense			BC011596	CCDS5828.1	7q33	2012-10-02			ENSG00000106554	ENSG00000106554	54927	54927		Coiled-coil-helix-coiled-coil-helix domain containing, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	21906	protein-coding gene	gene with protein product	mitochondrial inner membrane organizing system 3, protein phosphatase 1, regulatory subunit 22	613748			NA	22252321, 23019327, 21081504, 17624330	Standard	NM_017812	NM_017812	NA	Approved	FLJ20420, MINOS3, PPP1R22	uc003vre.3	Q9NX63	OTTHUMG00000155231	ENST00000262570.5:c.583C>T	7.37:g.132481280G>A	ENSP00000262570:p.Arg195Cys	NA		37	CCDS5828.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.852934	0.32699	.	.	ENSG00000106554	ENST00000262570;ENST00000448878	T;T	0.52057	0.69;0.68	5.81	5.81	0.92471	.	0.141061	0.64402	D	0.000004	T	0.60090	0.2242	L	0.56199	1.76	0.80722	D	1	D;B	0.89917	1.0;0.011	P;B	0.54706	0.759;0.004	T	0.58945	-0.7546	10	0.52906	T	0.07	-7.3234	19.6745	0.95926	0.0:0.0:1.0:0.0	.	200;195	C9JRZ6;Q9NX63	.;CHCH3_HUMAN	C	195;200	ENSP00000262570:R195C;ENSP00000389297:R200C	ENSP00000262570:R195C	R	-	1	0	CHCHD3	132131820	1.000000	0.71417	1.000000	0.80357	0.153000	0.21895	6.800000	0.75165	2.747000	0.94245	0.650000	0.86243	CGT	CHCHD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000338899.1		-	ENST00000262570.5	Missense_Mutation	SNP	7 : 132481280 - 132481280 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	310	54
VWA3A	146177	broad.mit.edu	37	16	22163834	22163834	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22163834C>T	ENST00000389398.5	+	31	3380	c.3284C>T	c.(3283-3285)gCg>gTg	p.A1095V	VWA3A_ENST00000389397.4_Missense_Mutation_p.A197V|VWA3A_ENST00000563755.1_Missense_Mutation_p.A197V	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1095	VWFA 2.					extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CCTTCCAGAGCGGCGGTTGAG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267	146177	146177			27088	protein-coding gene	gene with protein product					NA	12477932	Standard		XM_006721021	NA	Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.3284C>T	16.37:g.22163834C>T	ENSP00000374049:p.Ala1095Val	NA	A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	37	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.783587	0.31593	.	.	ENSG00000175267	ENST00000389398;ENST00000389397;ENST00000299840	T;T	0.10192	2.9;2.9	5.41	0.262	0.15597	von Willebrand factor, type A (3);	1.334680	0.04516	N	0.383827	T	0.04137	0.0115	N	0.10733	0.035	0.09310	N	1	B;B	0.33379	0.209;0.41	B;B	0.22601	0.031;0.04	T	0.32508	-0.9904	10	0.18276	T	0.48	.	2.3963	0.04390	0.4702:0.2698:0.1533:0.1067	.	1095;197	A6NCI4;A6NCI4-4	VWA3A_HUMAN;.	V	1095;197;718	ENSP00000374049:A1095V;ENSP00000374048:A197V	ENSP00000299840:A718V	A	+	2	0	VWA3A	22071335	0.000000	0.05858	0.003000	0.11579	0.034000	0.12701	-0.023000	0.12456	0.263000	0.21812	0.655000	0.94253	GCG	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000430052.1		+	ENST00000389398.5	Missense_Mutation	SNP	16 : 22163834 - 22163834 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	154	29
DYRK3	8444	broad.mit.edu	37	1	206821546	206821546	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206821546G>A	ENST00000367106.1	+	4	1416	c.943G>A	c.(943-945)Gat>Aat	p.D315N	DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367109.2_Missense_Mutation_p.D335N|DYRK3_ENST00000367108.3_Missense_Mutation_p.D315N			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	335	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TATTCACTGCGATCTGAAGCC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(164;427 2622 26826 51707)							NA				0													90	95	93			NA	NA	1		NA											NA				206821546		2203	4300	6503	SO:0001583	missense			Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	8444	8444	2.7.12.1		3094	protein-coding gene	gene with protein product	regulatory erythroid kinase, dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5, protein kinase Dyrk3	603497			NA	9748265	Standard	NM_003582	NM_003582	NA	Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367106.1:c.943G>A	1.37:g.206821546G>A	ENSP00000356073:p.Asp315Asn	NA	D3DT79|Q7Z752|Q9HBY6|Q9HBY7	37	CCDS31000.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486637	0.84854	.	.	ENSG00000143479	ENST00000367109;ENST00000367108;ENST00000367106	D;D;D	0.92965	-3.14;-3.14;-3.14	5.17	5.17	0.71159	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97480	0.9175	H	0.96430	3.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98503	1.0615	10	0.87932	D	0	.	17.8295	0.88677	0.0:0.0:1.0:0.0	.	335;315	O43781;O43781-2	DYRK3_HUMAN;.	N	335;315;315	ENSP00000356076:D335N;ENSP00000356075:D315N;ENSP00000356073:D315N	ENSP00000356073:D315N	D	+	1	0	DYRK3	204888169	1.000000	0.71417	0.995000	0.50966	0.930000	0.56654	9.647000	0.98478	2.692000	0.91855	0.448000	0.29417	GAT	DYRK3-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088461.1		+	ENST00000367106.1	Missense_Mutation	SNP	1 : 206821546 - 206821546 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	650	97
NPHP3	27031	broad.mit.edu	37	3	132423136	132423136	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132423136A>C	ENST00000337331.5	-	9	1516	c.1430T>G	c.(1429-1431)tTt>tGt	p.F477C	NPHP3_ENST00000326682.8_Missense_Mutation_p.F477C	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	477					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AACATCACCAAAATCATCTTC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													258	266	263			NA	NA	3		NA											NA				132423136		2203	4300	6503	SO:0001583	missense			AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971	27031	27031		Tetratricopeptide (TTC) repeat domain containing	7907	protein-coding gene	gene with protein product	nephrocystin-3, Meckel syndrome, type 7, cilia and flagella associated protein 31	608002			NA	12872122, 15381417	Standard	NM_153240	NM_153240	NA	Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.1430T>G	3.37:g.132423136A>C	ENSP00000338766:p.Phe477Cys	NA	Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	37	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	A	16.89	3.246680	0.59103	.	.	ENSG00000113971	ENST00000326682;ENST00000337331	D;D	0.91577	-2.87;-2.75	5.77	1.57	0.23409	.	0.342467	0.35151	N	0.003406	D	0.82861	0.5129	L	0.40543	1.245	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.73023	-0.4113	10	0.34782	T	0.22	-13.3143	6.0096	0.19567	0.7074:0.0:0.1372:0.1554	.	477	Q7Z494	NPHP3_HUMAN	C	477	ENSP00000319909:F477C;ENSP00000338766:F477C	ENSP00000319909:F477C	F	-	2	0	NPHP3	133905826	0.997000	0.39634	0.333000	0.25482	0.987000	0.75469	2.987000	0.49378	0.548000	0.28955	0.533000	0.62120	TTT	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357020.2		-	ENST00000337331.5	Missense_Mutation	SNP	3 : 132423136 - 132423136 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1507	291
WWC1	23286	broad.mit.edu	37	5	167812302	167812302	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167812302G>A	ENST00000265293.4	+	3	818	c.316G>A	c.(316-318)Gct>Act	p.A106T	WWC1_ENST00000521089.1_Missense_Mutation_p.A106T	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	106					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGCCCAGGAGGCTCTGAGTGC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	106	106			NA	NA	5		NA											NA				167812302		2203	4300	6503	SO:0001583	missense			AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645	23286	23286		WW, C2 and coiled-coil domain containing	29435	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 168	610533	WW, C2 and coiled-coil domain containing 1		NA	10048485, 12559952	Standard	NM_015238	NM_001161661	NA	Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.316G>A	5.37:g.167812302G>A	ENSP00000265293:p.Ala106Thr	NA	O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	37	CCDS4366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.630000|5.630000	0.96671|0.96671	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000265293;ENST00000521089|ENST00000393895	T;T|.	0.06449|.	3.3;3.3|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.74230|0.74230	0.3689|0.3689	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	P;D;D|.	0.89917|.	0.502;1.0;0.995|.	B;D;D|.	0.87578|.	0.28;0.998;0.962|.	T|T	0.71300|0.71300	-0.4634|-0.4634	10|5	0.42905|.	T|.	0.14|.	.|.	19.6523|19.6523	0.95822|0.95822	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	106;12;106|.	Q8IX03-2;B3KX05;Q8IX03|.	.;.;KIBRA_HUMAN|.	T|D	106|67	ENSP00000265293:A106T;ENSP00000427772:A106T|.	ENSP00000265293:A106T|.	A|G	+|+	1|2	0|0	WWC1|WWC1	167744880|167744880	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.576000|9.576000	0.98192|0.98192	2.650000|2.650000	0.89964|0.89964	0.561000|0.561000	0.74099|0.74099	GCT|GGC	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252791.2		+	ENST00000265293.4	Missense_Mutation	SNP	5 : 167812302 - 167812302 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	355	58
PGR	5241	broad.mit.edu	37	11	100996859	100996859	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:100996859T>G	ENST00000325455.5	-	2	3121	c.1668A>C	c.(1666-1668)caA>caC	p.Q556H	PGR_ENST00000263463.5_Missense_Mutation_p.Q556H|PGR_ENST00000534013.1_5'UTR	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	556	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CGAAGCTGTATTGTGGGCTCT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(124;2271 2354 21954 22882)							NA				0													72	63	66			NA	NA	11		NA											NA				100996859		2203	4300	6503	SO:0001583	missense			M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175	5241	5241		Nuclear hormone receptors	8910	protein-coding gene	gene with protein product		607311			NA		Standard		NM_000926	NA	Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.1668A>C	11.37:g.100996859T>G	ENSP00000325120:p.Gln556His	NA	A7X8B0|Q9UPF7	37	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	T	12.37	1.917796	0.33815	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.09817	2.94;2.94	5.55	2.2	0.27929	.	0.108809	0.41001	D	0.000978	T	0.25606	0.0623	M	0.64404	1.975	0.30183	N	0.800201	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.958	T	0.03374	-1.1043	10	0.62326	D	0.03	.	9.024	0.36218	0.0:0.6891:0.0:0.3109	.	556;556	Q8TDS3;P06401	.;PRGR_HUMAN	H	556	ENSP00000325120:Q556H;ENSP00000263463:Q556H	ENSP00000263463:Q556H	Q	-	3	2	PGR	100502069	0.794000	0.28838	1.000000	0.80357	0.042000	0.13812	0.195000	0.17155	0.652000	0.30806	-0.248000	0.11899	CAA	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394934.1		-	ENST00000325455.5	Missense_Mutation	SNP	11 : 100996859 - 100996859 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	184	46
MAN2B1	4125	broad.mit.edu	37	19	12759192	12759192	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12759192C>T	ENST00000456935.2	-	21	2501	c.2461G>A	c.(2461-2463)Gat>Aat	p.D821N	CTD-2192J16.22_ENST00000597692.1_Missense_Mutation_p.R7Q|MAN2B1_ENST00000221363.4_Missense_Mutation_p.D820N	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	821					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCGCGTCCATCGTCCTTCAGC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	25	27			NA	NA	19		NA											NA				12759192		2187	4264	6451	SO:0001583	missense				CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	4125	4125	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB	NA		Standard		NM_000528	NA	Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.2461G>A	19.37:g.12759192C>T	ENSP00000395473:p.Asp821Asn	NA	O15330|Q16680|Q93094|Q9BW13	37	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	C	33	5.267364	0.95399	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	D;D	0.90563	-2.69;-2.69	5.61	5.61	0.85477	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.161289	0.29314	N	0.012504	D	0.96886	0.8983	H	0.95504	3.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97833	1.0264	10	0.87932	D	0	-38.297	17.1287	0.86721	0.0:1.0:0.0:0.0	.	820;821	G5E928;O00754	.;MA2B1_HUMAN	N	821;760;820	ENSP00000395473:D821N;ENSP00000221363:D820N	ENSP00000221363:D820N	D	-	1	0	MAN2B1	12620192	1.000000	0.71417	0.042000	0.18584	0.012000	0.07955	6.130000	0.71663	2.634000	0.89283	0.561000	0.74099	GAT	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344062.1		-	ENST00000456935.2	Missense_Mutation	SNP	19 : 12759192 - 12759192 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	221	7
SLC7A7	9056	broad.mit.edu	37	14	23243280	23243280	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23243280G>A	ENST00000397532.3	-	9	1816	c.1291C>T	c.(1291-1293)Ctg>Ttg	p.L431L	SLC7A7_ENST00000397528.4_Silent_p.L431L|SLC7A7_ENST00000554517.1_Silent_p.L165L|SLC7A7_ENST00000555702.1_Silent_p.L431L|SLC7A7_ENST00000397529.2_Silent_p.L431L|SLC7A7_ENST00000285850.7_Silent_p.L431L|SLC7A7_ENST00000554061.1_5'UTR			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	431					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		ACAGCCACCAGGAAGATGGTG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	128	129			NA	NA	14		NA											NA				23243280		2203	4300	6503	SO:0001819	synonymous_variant			AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465	9056	9056		Solute carriers	11065	protein-coding gene	gene with protein product		603593		LPI	NA	9829974	Standard		NM_001126106	NA	Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.1291C>T	14.37:g.23243280G>A		NA	B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	37	CCDS9574.1																																																																																			SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071636.3		-	ENST00000397532.3	Silent	SNP	14 : 23243280 - 23243280 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	399	60
SIGLEC14	100049587	broad.mit.edu	37	19	52149521	52149521	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52149521A>G	ENST00000360844.6	-	2	451	c.410T>C	c.(409-411)tTg>tCg	p.L137S	SIGLEC5_ENST00000222107.4_Missense_Mutation_p.L137S|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.L137S	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	137					cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TGTCACCTCCAAGTTCAGCTT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	96	90			NA	NA	19		NA											NA				52149521		1832	4002	5834	SO:0001583	missense			AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415	100049587	100049587		Sialic acid binding Ig-like lectins, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	32926	protein-coding gene	gene with protein product					NA	17012248	Standard	NM_001098612	NM_001098612	NA	Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.410T>C	19.37:g.52149521A>G	ENSP00000354090:p.Leu137Ser	NA	Q6UXG0	37	CCDS42604.1	.	.	.	.	.	.	.	.	.	.	A	13.83	2.352761	0.41700	.	.	ENSG00000105501;ENSG00000254415	ENST00000222107;ENST00000360844	T;T	0.68479	-0.33;-0.33	3.09	3.09	0.35607	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.234553	0.21568	N	0.072458	T	0.80954	0.4723	M	0.86953	2.85	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69624	-0.5095	10	0.87932	D	0	.	7.8471	0.29431	1.0:0.0:0.0:0.0	.	137	Q08ET2	SIG14_HUMAN	S	137	ENSP00000222107:L137S;ENSP00000354090:L137S	ENSP00000354090:L137S	L	-	2	0	SIGLEC5;SIGLEC14	56841333	0.000000	0.05858	0.136000	0.22124	0.031000	0.12232	0.278000	0.18753	1.429000	0.47314	0.416000	0.27883	TTG	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466899.2		-	ENST00000360844.6	Missense_Mutation	SNP	19 : 52149521 - 52149521 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	638	29
SLC1A6	6511	broad.mit.edu	37	19	15065121	15065121	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15065121G>A	ENST00000430939.2	-	7	1127	c.998C>T	c.(997-999)aCc>aTc	p.T333I	SLC1A6_ENST00000600144.1_Missense_Mutation_p.T319I|SLC1A6_ENST00000221742.3_Missense_Mutation_p.T397I			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	397					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GCAGCGGAAGGTGATGGGCAG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	47	48			NA	NA	19		NA											NA				15065121		2203	4299	6502	SO:0001583	missense				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143	6511	6511		Solute carriers	10944	protein-coding gene	gene with protein product		600637			NA	7791878	Standard	NM_005071	NM_005071	NA	Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000430939.2:c.998C>T	19.37:g.15065121G>A	ENSP00000409386:p.Thr333Ile	NA		37		.	.	.	.	.	.	.	.	.	.	g	26.2	4.714401	0.89112	.	.	ENSG00000105143	ENST00000430939;ENST00000221742	T;T	0.61742	0.37;0.08	4.52	4.52	0.55395	.	0.161650	0.53938	D	0.000041	T	0.77968	0.4210	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.99	T	0.82028	-0.0660	10	0.87932	D	0	-31.7608	15.1319	0.72530	0.0:0.0:1.0:0.0	.	333;397	E7EV13;P48664	.;EAA4_HUMAN	I	333;397	ENSP00000409386:T333I;ENSP00000221742:T397I	ENSP00000221742:T397I	T	-	2	0	SLC1A6	14926121	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.636000	0.83301	2.518000	0.84900	0.546000	0.68486	ACC	SLC1A6-001	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000466282.1		-	ENST00000430939.2	Missense_Mutation	SNP	19 : 15065121 - 15065121 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	494	95
OGFOD2	79676	broad.mit.edu	37	12	123463381	123463381	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123463381C>A	ENST00000538755.1	+	7	1093	c.121C>A	c.(121-123)Ctg>Atg	p.L41M	OGFOD2_ENST00000542117.1_3'UTR|OGFOD2_ENST00000536150.1_Missense_Mutation_p.L41M|OGFOD2_ENST00000228922.7_Missense_Mutation_p.L205M|OGFOD2_ENST00000538628.1_Missense_Mutation_p.L41M|RP11-197N18.2_ENST00000540866.2_RNA|OGFOD2_ENST00000397389.2_Missense_Mutation_p.L145M|OGFOD2_ENST00000545317.1_Missense_Mutation_p.L41M|OGFOD2_ENST00000545612.1_Missense_Mutation_p.L41M|OGFOD2_ENST00000454694.2_Missense_Mutation_p.L41M|ABCB9_ENST00000542678.1_Intron			Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2	205							iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	GATGGCCCTGCTGTACCCTGA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	19	17			NA	NA	12		NA											NA				123463381		2093	4216	6309	SO:0001583	missense			AK094820	CCDS41855.1	12q24.31	2010-11-23			ENSG00000111325	ENSG00000111325	79676	79676			25823	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024623	NM_024623	NA	Approved	FLJ13491, FLJ37501	uc001udz.1	Q6N063		ENST00000538755.1:c.121C>A	12.37:g.123463381C>A	ENSP00000442817:p.Leu41Met	NA	B3KT24|Q4KN13|Q6N023|Q9H8K6	37		.	.	.	.	.	.	.	.	.	.	C	23.3	4.399435	0.83120	.	.	ENSG00000111325	ENST00000397389;ENST00000538755;ENST00000536150;ENST00000545056;ENST00000545612;ENST00000538628;ENST00000545317;ENST00000454694;ENST00000228922;ENST00000536439	D;T	0.89415	-2.51;0.78	5.42	4.52	0.55395	Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.94437	0.8210	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94865	0.8025	10	0.66056	D	0.02	-20.6502	14.5866	0.68328	0.0:0.9285:0.0:0.0715	.	205;145	Q6N063;Q6N063-2	OGFD2_HUMAN;.	M	145;41;41;41;41;41;41;41;205;41	ENSP00000380544:L145M;ENSP00000228922:L205M	ENSP00000228922:L205M	L	+	1	2	OGFOD2	122029334	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	4.083000	0.57643	1.253000	0.44018	0.561000	0.74099	CTG	OGFOD2-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000400972.1		+	ENST00000538755.1	Missense_Mutation	SNP	12 : 123463381 - 123463381 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	164	35
SOGA3	387104	broad.mit.edu	37	6	127834117	127834117	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127834117T>G	ENST00000481848.2	-	4	1914	c.1404A>C	c.(1402-1404)gaA>gaC	p.E468D	SOGA3_ENST00000465909.2_Missense_Mutation_p.E468D|SOGA3_ENST00000525778.1_Missense_Mutation_p.E468D|SOGA3_ENST00000556132.1_Missense_Mutation_p.E468D|SOGA3_ENST00000368268.2_Missense_Mutation_p.E468D			Q5TF21	CF174_HUMAN	SOGA family member 3	468						integral to membrane					NA						GTTTCTCATTTTCATCTTCTG	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	142	148			NA	NA	6		NA											NA				127834117		1835	4092	5927	SO:0001583	missense			AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338	387104	387104			21494	protein-coding gene	gene with protein product			chromosome 6 open reading frame 174	C6orf174	NA		Standard	NM_001012279	NM_001012279	NA	Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000481848.2:c.1404A>C	6.37:g.127834117T>G	ENSP00000455908:p.Glu468Asp	NA		37	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.692364	0.88735	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.31575	0.0801	M	0.64260	1.97	0.54753	D	0.999985	P	0.36990	0.577	B	0.37091	0.241	T	0.22382	-1.0218	10	0.48119	T	0.1	-15.0245	15.9355	0.79704	0.0:0.0:0.0:1.0	.	468	Q5TF21	CF174_HUMAN	D	468	ENSP00000451768:E468D;ENSP00000357251:E468D;ENSP00000434570:E468D;ENSP00000435559:E468D	ENSP00000435559:E468D	E	-	3	2	C6orf174	127875810	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.023000	0.70848	2.234000	0.73211	0.533000	0.62120	GAA	SOGA3-001	KNOWN	basic|appris_candidate_longest|readthrough_transcript|CCDS	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000042149.3		-	ENST00000481848.2	Missense_Mutation	SNP	6 : 127834117 - 127834117 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	109	17
PIAS3	10401	broad.mit.edu	37	1	145584278	145584278	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145584278G>A	ENST00000393045.2	+	11	1519	c.1429G>A	c.(1429-1431)Gcc>Acc	p.A477T	PIAS3_ENST00000369298.1_Missense_Mutation_p.A442T	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	477					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGCCATCCCGGCCCTACCTGG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	94	93			NA	NA	1		NA											NA				145584278		2203	4300	6503	SO:0001583	missense			AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788	10401	10401		Zinc fingers, MIZ-type	16861	protein-coding gene	gene with protein product	zinc finger, MIZ-type containing 5	605987			NA	10319586	Standard	NM_006099	NM_006099	NA	Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1429G>A	1.37:g.145584278G>A	ENSP00000376765:p.Ala477Thr	NA	Q9UFI3	37	CCDS920.2	.	.	.	.	.	.	.	.	.	.	G	8.285	0.816415	0.16607	.	.	ENSG00000131788	ENST00000393045;ENST00000369298	T;T	0.30448	1.53;1.53	5.64	3.8	0.43715	.	0.197182	0.35151	N	0.003403	T	0.06554	0.0168	L	0.34521	1.04	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.18967	-1.0320	10	0.08381	T	0.77	-8.8419	5.2502	0.15517	0.1643:0.0:0.6728:0.1629	.	477	Q9Y6X2	PIAS3_HUMAN	T	477;442	ENSP00000376765:A477T;ENSP00000358304:A442T	ENSP00000358304:A442T	A	+	1	0	PIAS3	144295635	0.629000	0.27146	0.579000	0.28588	0.835000	0.47333	1.000000	0.29770	0.954000	0.37851	-0.142000	0.14014	GCC	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000038533.4		+	ENST00000393045.2	Missense_Mutation	SNP	1 : 145584278 - 145584278 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	731	158
PLEKHH2	130271	broad.mit.edu	37	2	43970029	43970029	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43970029C>T	ENST00000282406.4	+	22	3481	c.3371C>T	c.(3370-3372)cCt>cTt	p.P1124L		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1124	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTTAGTATACCTGTGCACTTC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	147	152			NA	NA	2		NA											NA				43970029		2203	4300	6503	SO:0001583	missense			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527	130271	130271		Pleckstrin homology (PH) domain containing	30506	protein-coding gene	gene with protein product		612723			NA		Standard	NM_172069	NM_172069	NA	Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.3371C>T	2.37:g.43970029C>T	ENSP00000282406:p.Pro1124Leu	NA	Q5JPJ6|Q6P4Q1|Q8N3Q3	37	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.805841	0.90623	.	.	ENSG00000152527	ENST00000282406	T	0.74526	-0.85	5.3	5.3	0.74995	Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.87779	0.6263	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89272	0.3605	10	0.72032	D	0.01	-20.4487	18.9515	0.92643	0.0:1.0:0.0:0.0	.	1124	Q8IVE3	PKHH2_HUMAN	L	1124	ENSP00000282406:P1124L	ENSP00000282406:P1124L	P	+	2	0	PLEKHH2	43823533	1.000000	0.71417	0.872000	0.34217	0.872000	0.50106	7.487000	0.81328	2.459000	0.83118	0.563000	0.77884	CCT	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250537.1		+	ENST00000282406.4	Missense_Mutation	SNP	2 : 43970029 - 43970029 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	424	14
CCER1	196477	broad.mit.edu	37	12	91348413	91348413	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91348413G>A	ENST00000358859.2	-	1	540	c.107C>T	c.(106-108)tCg>tTg	p.S36L	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1	NA											NA						ATGGCAGGACGACCAGGAGCT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	16	17			NA	NA	12		NA											NA				91348413		2201	4300	6501	SO:0001583	missense			BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651	196477	196477			28373	protein-coding gene	gene with protein product			chromosome 12 open reading frame 12	C12orf12	NA	17967063	Standard	NM_152638	NM_152638	NA	Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.107C>T	12.37:g.91348413G>A	ENSP00000351727:p.Ser36Leu	NA		37	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605949	0.46527	.	.	ENSG00000197651	ENST00000358859	T	0.43294	0.95	5.08	4.18	0.49190	.	0.988962	0.08180	N	0.985692	T	0.47655	0.1457	L	0.27053	0.805	0.26525	N	0.974364	D	0.67145	0.996	P	0.57548	0.823	T	0.40794	-0.9544	10	0.72032	D	0.01	-7.7442	11.2994	0.49295	0.0:0.1837:0.8163:0.0	.	36	Q8TC90	CL012_HUMAN	L	36	ENSP00000351727:S36L	ENSP00000351727:S36L	S	-	2	0	C12orf12	89872544	0.970000	0.33590	0.386000	0.26170	0.144000	0.21451	1.817000	0.39002	1.342000	0.45619	0.462000	0.41574	TCG	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407142.2		-	ENST00000358859.2	Missense_Mutation	SNP	12 : 91348413 - 91348413 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	127	23
ZBTB44	29068	broad.mit.edu	37	11	130108397	130108397	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130108397G>T	ENST00000525842.1	-	4	1576	c.1209C>A	c.(1207-1209)acC>acA	p.T403T	ZBTB44_ENST00000357899.4_Silent_p.T403T|ZBTB44_ENST00000397753.1_Silent_p.T403T|ZBTB44_ENST00000530205.1_Silent_p.T403T	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		GCACCCCGCAGGTTGGACACT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	77	78			NA	NA	11		NA											NA				130108397		1966	4155	6121	SO:0001819	synonymous_variant			AK024659	CCDS44776.1, CCDS73414.1, CCDS73415.1	11q24.3	2013-01-08	2006-09-19	2006-09-19		ENSG00000196323	29068	29068		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	25001	protein-coding gene	gene with protein product			BTB (POZ) domain containing 15	BTBD15	NA	11042152	Standard	NM_014155	NM_014155	NA	Approved	HSPC063, ZNF851	uc001qgb.4	Q8NCP5		ENST00000525842.1:c.1209C>A	11.37:g.130108397G>T		NA	Q6IPT8|Q86VJ7|Q86XX5	37	CCDS44776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.01|10.01	1.233430|1.233430	0.22626|0.22626	.|.	.|.	ENSG00000196323|ENSG00000196323	ENST00000527478|ENST00000529982	.|.	.|.	.|.	6.16|6.16	1.76|1.76	0.24704|0.24704	.|.	.|.	.|.	.|.	.|.	T|T	0.43787|0.43787	0.1263|0.1263	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.20974|0.20974	-1.0259|-1.0259	4|4	.|.	.|.	.|.	.|.	2.5208|2.5208	0.04679|0.04679	0.2089:0.271:0.3867:0.1334|0.2089:0.271:0.3867:0.1334	.|.	.|.	.|.	.|.	M|H	382|257	.|.	.|.	L|P	-|-	1|2	2|0	ZBTB44|ZBTB44	129613607|129613607	0.998000|0.998000	0.40836|0.40836	0.999000|0.999000	0.59377|0.59377	0.995000|0.995000	0.86356|0.86356	0.461000|0.461000	0.21940|0.21940	0.083000|0.083000	0.17047|0.17047	0.650000|0.650000	0.86243|0.86243	CTG|CCT	ZBTB44-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386125.1		-	ENST00000525842.1	Silent	SNP	11 : 130108397 - 130108397 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	74	14
TMEM179B	374395	broad.mit.edu	37	11	62557503	62557503	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62557503G>A	ENST00000533861.1	+	0	582				TMEM179B_ENST00000333449.4_Missense_Mutation_p.R215H|TMEM223_ENST00000307366.7_3'UTR|TMEM223_ENST00000527073.1_Intron|TMEM223_ENST00000525631.1_Intron			Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	NA						integral to membrane				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						GTTGGGTCACGCCTTTCCCAT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	66	68			NA	NA	11		NA											NA				62557503		2201	4299	6500	SO:0001624	3_prime_UTR_variant			BC051355	CCDS8036.1	11q12.3	2007-11-26			ENSG00000185475	ENSG00000185475	374395	374395			33744	protein-coding gene	gene with protein product					NA		Standard	NM_199337	NM_199337	NA	Approved		uc001nvd.4	Q7Z7N9	OTTHUMG00000167611	ENST00000533861.1:c.*130G>A	11.37:g.62557503G>A		NA		37		.	.	.	.	.	.	.	.	.	.	G	12.68	2.011836	0.35511	.	.	ENSG00000185475	ENST00000333449	.	.	.	5.71	0.137	0.14787	.	0.584731	0.18530	N	0.138524	T	0.26011	0.0634	L	0.33485	1.01	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.12604	-1.0541	9	0.38643	T	0.18	.	5.2072	0.15297	0.3189:0.1704:0.5107:0.0	.	215	Q7Z7N9	T179B_HUMAN	H	215	.	ENSP00000333697:R215H	R	+	2	0	TMEM179B	62314079	0.000000	0.05858	0.003000	0.11579	0.841000	0.47740	-0.382000	0.07408	-0.216000	0.10048	0.561000	0.74099	CGC	TMEM179B-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000395361.1		+	ENST00000533861.1	3'UTR	SNP	11 : 62557503 - 62557503 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	241	67
BRD3	8019	broad.mit.edu	37	9	136918578	136918578	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136918578C>T	ENST00000303407.7	-	2	207	c.22G>A	c.(22-24)Gcc>Acc	p.A8T	BRD3_ENST00000357885.2_Missense_Mutation_p.A8T|BRD3_ENST00000371834.2_Missense_Mutation_p.A8T	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	8						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CCCGCGGGGGCGACTGTCGTG	0.682		NA	T	C15orf55	lethal midline carcinoma of young people									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		9	9q34	8019	bromodomain containing 3		E	0													11	14	13			NA	NA	9		NA											NA				136918578		2184	4281	6465	SO:0001583	missense				CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925	8019	8019			1104	protein-coding gene	gene with protein product	RING3-like	601541	bromodomain-containing 3		NA	7584044, 8781126	Standard	NM_007371	NM_007371	NA	Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.22G>A	9.37:g.136918578C>T	ENSP00000305918:p.Ala8Thr	NA	B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	37	CCDS6980.1	.	.	.	.	.	.	.	.	.	.	C	7.464	0.645186	0.14451	.	.	ENSG00000169925	ENST00000303407;ENST00000371834;ENST00000357885;ENST00000371842;ENST00000433041	T;T;T;T	0.15603	3.28;3.0;3.0;2.41	4.87	2.74	0.32292	.	0.201811	0.24876	N	0.034884	T	0.11922	0.0290	L	0.28556	0.865	0.09310	N	0.999999	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.19192	-1.0313	10	0.48119	T	0.1	-11.6772	8.9493	0.35779	0.0:0.7091:0.0:0.2909	.	8;8	Q15059-2;Q15059	.;BRD3_HUMAN	T	8	ENSP00000305918:A8T;ENSP00000360900:A8T;ENSP00000350557:A8T;ENSP00000360908:A8T	ENSP00000305918:A8T	A	-	1	0	BRD3	135908399	0.481000	0.25941	0.760000	0.31359	0.127000	0.20565	0.989000	0.29629	1.045000	0.40225	-0.444000	0.05651	GCC	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055390.4		-	ENST00000303407.7	Missense_Mutation	SNP	9 : 136918578 - 136918578 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	155	27
IFNLR1	163702	broad.mit.edu	37	1	24485614	24485614	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24485614G>A	ENST00000327535.1	-	6	741	c.729C>T	c.(727-729)gcC>gcT	p.A243A	IFNLR1_ENST00000327575.2_Intron|IFNLR1_ENST00000374419.1_Silent_p.A160A|IFNLR1_ENST00000374421.3_Silent_p.A243A	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1			interferon, lambda receptor 1	NA											NA						CACCCCCTGCGGCAATTACTA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	68	68			NA	NA	1		NA											NA				24485614		2203	4300	6503	SO:0001819	synonymous_variant			AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436	163702	163702		Interferons	18584	protein-coding gene	gene with protein product	interferon lambda receptor 1	607404	interleukin 28 receptor, alpha, interleukin 28 receptor, alpha (interferon, lambda receptor)	IL28RA	NA		Standard	NM_170743	NM_173064	NA	Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.729C>T	1.37:g.24485614G>A		NA		37	CCDS248.1																																																																																			IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000008402.1		-	ENST00000327535.1	Silent	SNP	1 : 24485614 - 24485614 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	440	53
SNCB	6620	broad.mit.edu	37	5	176053475	176053475	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176053475G>A	ENST00000310112.3	-	5	456	c.206C>T	c.(205-207)gCt>gTt	p.A69V	SNCB_ENST00000506696.1_Missense_Mutation_p.A69V|SNCB_ENST00000510387.1_Missense_Mutation_p.A69V|SNCB_ENST00000393693.2_Missense_Mutation_p.A69V	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta	69							calcium ion binding|phospholipase inhibitor activity			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAGAACACAGCTCCTCCCAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	103	112			NA	NA	5		NA											NA				176053475		2203	4300	6503	SO:0001583	missense			AF053134	CCDS4406.1	5q35	2008-07-18			ENSG00000074317	ENSG00000074317	6620	6620			11140	protein-coding gene	gene with protein product		602569			NA	7558013, 9806846	Standard	NM_001001502	NM_003085	NA	Approved		uc003meq.3	Q16143	OTTHUMG00000130661	ENST00000310112.3:c.206C>T	5.37:g.176053475G>A	ENSP00000308057:p.Ala69Val	NA	Q6IAX7	37	CCDS4406.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676133	0.88445	.	.	ENSG00000074317	ENST00000310112;ENST00000393693;ENST00000510387;ENST00000506696	D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3	4.36	4.36	0.52297	.	0.099316	0.42172	D	0.000758	D	0.91219	0.7233	L	0.54965	1.715	0.80722	D	1	D	0.67145	0.996	D	0.64877	0.93	D	0.92262	0.5818	10	0.72032	D	0.01	-8.5917	17.4511	0.87592	0.0:0.0:1.0:0.0	.	69	Q16143	SYUB_HUMAN	V	69	ENSP00000308057:A69V;ENSP00000377296:A69V;ENSP00000424073:A69V;ENSP00000422223:A69V	ENSP00000308057:A69V	A	-	2	0	SNCB	175986081	1.000000	0.71417	0.972000	0.41901	0.953000	0.61014	5.539000	0.67199	2.434000	0.82447	0.462000	0.41574	GCT	SNCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253152.2		-	ENST00000310112.3	Missense_Mutation	SNP	5 : 176053475 - 176053475 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	421	81
SAMHD1	25939	broad.mit.edu	37	20	35563508	35563508	+	Nonsense_Mutation	SNP	G	G	A	rs121434517		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35563508G>A	ENST00000262878.4	-	4	632	c.433C>T	c.(433-435)Cga>Tga	p.R145*	SAMHD1_ENST00000373694.5_5'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	145			R -> Q (in AGS5).		defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TTGATGTATCGAAGACGTTGA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	125	129			NA	NA	20		NA											NA				35563508		2203	4300	6503	SO:0001587	stop_gained			AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347	25939	25939		Sterile alpha motif (SAM) domain containing	15925	protein-coding gene	gene with protein product	HD domain containing 1, monocyte protein 5, Aicardi-Goutieres syndrome 5	606754			NA	11064105, 11230166	Standard	NM_015474	NM_015474	NA	Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.433C>T	20.37:g.35563508G>A	ENSP00000262878:p.Arg145*	NA	B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	37	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	G	38	7.160328	0.98103	.	.	ENSG00000101347	ENST00000262878	.	.	.	6.05	4.04	0.47022	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.0364	9.3019	0.37851	0.0657:0.0:0.6789:0.2553	.	.	.	.	X	145	.	ENSP00000262878:R145X	R	-	1	2	SAMHD1	34996922	1.000000	0.71417	0.967000	0.41034	0.983000	0.72400	3.147000	0.50639	1.571000	0.49722	0.650000	0.86243	CGA	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079062.2		-	ENST00000262878.4	Nonsense_Mutation	SNP	20 : 35563508 - 35563508 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	401	84
DDX58	23586	broad.mit.edu	37	9	32488121	32488121	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32488121A>G	ENST00000379883.2	-	8	1191	c.1034T>C	c.(1033-1035)aTt>aCt	p.I345T	DDX58_ENST00000379868.1_Missense_Mutation_p.I142T|DDX58_ENST00000545044.1_Missense_Mutation_p.I142T|DDX58_ENST00000542096.1_Missense_Mutation_p.I274T|DDX58_ENST00000379882.1_Missense_Mutation_p.I300T	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	345	Helicase ATP-binding.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TGGAGTTAAAATGATGATGTC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	159	162			NA	NA	9		NA											NA				32488121		2203	4300	6503	SO:0001583	missense			AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201	23586	23586		DEAD-boxes	19102	protein-coding gene	gene with protein product	RNA helicase RIG-I, retinoic acid inducible gene I	609631			NA	21690088	Standard	NM_014314	NM_014314	NA	Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.1034T>C	9.37:g.32488121A>G	ENSP00000369213:p.Ile345Thr	NA	A2RU81|Q5HYE1|Q5VYT1|Q9NT04	37	CCDS6526.1	.	.	.	.	.	.	.	.	.	.	A	17.35	3.367771	0.61513	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000379868;ENST00000542096;ENST00000545044	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	4.57	4.57	0.56435	DEAD-like helicase (2);ATPase, AAA+ type, core (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.669254	0.13343	N	0.395009	T	0.56247	0.1972	M	0.65320	2	0.35448	D	0.795485	P;P;P;P	0.48998	0.918;0.542;0.814;0.889	P;B;P;P	0.55545	0.519;0.277;0.778;0.726	T	0.65788	-0.6083	10	0.59425	D	0.04	-1.9774	13.2283	0.59927	1.0:0.0:0.0:0.0	.	142;300;274;345	F5H5W6;O95786-2;B3KWW1;O95786	.;.;.;DDX58_HUMAN	T	300;345;142;274;142	ENSP00000369212:I300T;ENSP00000369213:I345T;ENSP00000369197:I142T;ENSP00000442160:I274T;ENSP00000443055:I142T	ENSP00000369197:I142T	I	-	2	0	DDX58	32478121	0.997000	0.39634	0.986000	0.45419	0.910000	0.53928	6.586000	0.74067	1.846000	0.53633	0.374000	0.22700	ATT	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052011.1		-	ENST00000379883.2	Missense_Mutation	SNP	9 : 32488121 - 32488121 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	464	109
DSG2	1829	broad.mit.edu	37	18	29115361	29115361	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29115361T>C	ENST00000261590.8	+	10	1618	c.1409T>C	c.(1408-1410)gTg>gCg	p.V470A		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	470	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GTAAAGATTGTGGCCATATCA	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	41	42			NA	NA	18		NA											NA				29115361		1806	4072	5878	SO:0001583	missense			Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604	1829	1829		Cadherins / Major cadherins	3049	protein-coding gene	gene with protein product		125671			NA	1612610	Standard	NM_001943	NM_001943	NA	Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.1409T>C	18.37:g.29115361T>C	ENSP00000261590:p.Val470Ala	NA	Q4KKU6	37	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	T	11.67	1.706790	0.30232	.	.	ENSG00000046604	ENST00000261590	T	0.61274	0.12	5.66	5.66	0.87406	Cadherin (4);Cadherin-like (1);	1.741940	0.02868	N	0.131227	T	0.64405	0.2595	L	0.53249	1.67	0.80722	D	1	B	0.26975	0.165	B	0.31442	0.13	T	0.36696	-0.9737	10	0.62326	D	0.03	.	15.8834	0.79222	0.0:0.0:0.0:1.0	.	470	Q14126	DSG2_HUMAN	A	470	ENSP00000261590:V470A	ENSP00000261590:V470A	V	+	2	0	DSG2	27369359	1.000000	0.71417	0.037000	0.18230	0.151000	0.21798	6.445000	0.73456	2.158000	0.67659	0.379000	0.24179	GTG	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447506.1		+	ENST00000261590.8	Missense_Mutation	SNP	18 : 29115361 - 29115361 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	146	32
PCBP1	5093	broad.mit.edu	37	2	70315942	70315942	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70315942G>T	ENST00000303577.5	+	1	1358	c.1067G>T	c.(1066-1068)aGc>aTc	p.S356I	PCBP1-AS1_ENST00000596028.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	356					nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						ATGGGGTGCAGCTAGAACAGT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(85;1146 1307 3484 18706 25380)							NA				0													27	28	27			NA	NA	2		NA											NA				70315942		2203	4300	6503	SO:0001583	missense				CCDS1898.1	2p13-p12	2013-07-16	2001-11-28		ENSG00000169564	ENSG00000169564	5093	5093			8647	protein-coding gene	gene with protein product	heterogeneous nuclear ribonucleoprotein E1	601209	poly(rC)-binding protein 1		NA	8833161	Standard	NM_006196	NM_006196	NA	Approved	HNRPE1, hnRNP-E1, HNRPX, hnRNP-X	uc002sgf.3	Q15365	OTTHUMG00000129645	ENST00000303577.5:c.1067G>T	2.37:g.70315942G>T	ENSP00000305556:p.Ser356Ile	NA	Q13157|Q14975	37	CCDS1898.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334018	0.60853	.	.	ENSG00000169564	ENST00000303577	T	0.30182	1.54	3.88	3.88	0.44766	.	0.053625	0.64402	D	0.000001	T	0.42988	0.1227	L	0.57536	1.79	0.40620	D	0.981757	P	0.49862	0.929	P	0.53313	0.723	T	0.48151	-0.9060	10	0.87932	D	0	.	14.1379	0.65300	0.0:0.0:1.0:0.0	.	356	Q15365	PCBP1_HUMAN	I	356	ENSP00000305556:S356I	ENSP00000305556:S356I	S	+	2	0	PCBP1	70169446	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.917000	0.48821	2.464000	0.83262	0.563000	0.77884	AGC	PCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251844.1		+	ENST00000303577.5	Missense_Mutation	SNP	2 : 70315942 - 70315942 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	166	39
CYP39A1	51302	broad.mit.edu	37	6	46610004	46610004	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46610004C>T	ENST00000275016.2	-	2	412	c.209G>A	c.(208-210)gGa>gAa	p.G70E		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	70					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						CATTCGGTTTCCCATAGCAAA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	63	63			NA	NA	6		NA											NA				46610004		2202	4297	6499	SO:0001583	missense			AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233	51302	51302		Cytochrome P450s	17449	protein-coding gene	gene with protein product		605994	cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1		NA	10748047	Standard		NM_016593	NA	Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.209G>A	6.37:g.46610004C>T	ENSP00000275016:p.Gly70Glu	NA	Q5VTT0|Q96FW5	37	CCDS4916.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846263	0.71603	.	.	ENSG00000146233	ENST00000275016	T	0.68479	-0.33	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.78811	0.4342	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81680	-0.0823	10	0.87932	D	0	-15.2661	17.2743	0.87111	0.0:1.0:0.0:0.0	.	70;70	B7Z786;Q9NYL5	.;CP39A_HUMAN	E	70	ENSP00000275016:G70E	ENSP00000275016:G70E	G	-	2	0	CYP39A1	46717963	1.000000	0.71417	0.439000	0.26833	0.789000	0.44602	5.604000	0.67626	2.436000	0.82500	0.563000	0.77884	GGA	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040787.1		-	ENST00000275016.2	Missense_Mutation	SNP	6 : 46610004 - 46610004 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	227	33
CHRNE	1145	broad.mit.edu	37	17	4804099	4804099	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4804099C>T	ENST00000293780.4	-	8	916	c.906G>A	c.(904-906)ccG>ccA	p.P302P	C17orf107_ENST00000381365.3_3'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	302					muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12						TGCCCAGGAGCGGCACGCTCA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	1,4405		0,1,2202	41	42	41		906,	-3.9	1	17		41	0,8600		0,0,4300	no	coding-synonymous,utr-3	CHRNE,C17orf107	NM_000080.3,NM_001145536.1	,	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	,	302/494,	4804099	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556	1145	1145		Cholinergic receptors, Ligand-gated ion channels / Acetylcholine receptors, nicotinic	1966	protein-coding gene	gene with protein product	acetylcholine receptor, nicotinic, epsilon (muscle)	100725	cholinergic receptor, nicotinic, epsilon		NA	7688301	Standard		NM_000080	NA	Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778	ENST00000293780.4:c.906G>A	17.37:g.4804099C>T		NA	D3DTK6	37	CCDS11058.1																																																																																			CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207560.3		-	ENST00000293780.4	Silent	SNP	17 : 4804099 - 4804099 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	171	32
MYO10	4651	broad.mit.edu	37	5	16701471	16701471	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16701471G>A	ENST00000513610.1	-	25	3487	c.3033C>T	c.(3031-3033)agC>agT	p.S1011S	MYO10_ENST00000505695.1_Silent_p.S350S|MYO10_ENST00000515803.1_Silent_p.S350S|MYO10_ENST00000274203.9_Silent_p.S368S|MYO10_ENST00000427430.2_Silent_p.S368S	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1011					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GGCCGTGCTCGCTGGGGTTGG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	47	45			NA	NA	5		NA											NA				16701471		2168	4257	6425	SO:0001819	synonymous_variant			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555	4651	4651		Myosins / Myosin superfamily : Class X, Pleckstrin homology (PH) domain containing	7593	protein-coding gene	gene with protein product		601481			NA	8884266	Standard	NM_012334	NM_012334	NA	Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3033C>T	5.37:g.16701471G>A		NA	A7E2D1|O94893|Q9NYM7|Q9P110|Q9P111|Q9UHF6	37	CCDS54834.1																																																																																			MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366167.1		-	ENST00000513610.1	Silent	SNP	5 : 16701471 - 16701471 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	236	28
LAMA1	284217	broad.mit.edu	37	18	7034541	7034541	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7034541A>G	ENST00000389658.3	-	14	2081	c.1988T>C	c.(1987-1989)cTt>cCt	p.L663P		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	663	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACATTGGCAAGGACAGTCAT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	141	145			NA	NA	18		NA											NA				7034541		2203	4300	6503	SO:0001583	missense			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680	284217	284217		Laminins	6481	protein-coding gene	gene with protein product		150320		LAMA	NA	2591971	Standard	NM_005559	NM_005559	NA	Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.1988T>C	18.37:g.7034541A>G	ENSP00000374309:p.Leu663Pro	NA		37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.418436	0.83559	.	.	ENSG00000101680	ENST00000389658	T	0.65364	-0.15	5.9	5.9	0.94986	Laminin B type IV (2);Laminin B, subgroup (1);	0.070910	0.56097	D	0.000021	D	0.83519	0.5272	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86760	0.1966	10	0.59425	D	0.04	.	16.3283	0.82996	1.0:0.0:0.0:0.0	.	663	P25391	LAMA1_HUMAN	P	663	ENSP00000374309:L663P	ENSP00000374309:L663P	L	-	2	0	LAMA1	7024541	1.000000	0.71417	0.957000	0.39632	0.989000	0.77384	8.175000	0.89684	2.257000	0.74773	0.533000	0.62120	CTT	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257369.1		-	ENST00000389658.3	Missense_Mutation	SNP	18 : 7034541 - 7034541 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	457	23
CTSS	1520	broad.mit.edu	37	1	150720331	150720331	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150720331G>A	ENST00000368985.3	-	7	1078	c.818C>T	c.(817-819)aCt>aTt	p.T273I	CTSS_ENST00000448301.2_Missense_Mutation_p.T223I|CTSS_ENST00000480760.1_5'UTR	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	273					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			CACATTCTGAGTACAGGATGG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	122	124			NA	NA	1		NA											NA				150720331		2203	4300	6503	SO:0001583	missense			M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	1520	1520	3.4.22.27	Cathepsins	2545	protein-coding gene	gene with protein product		116845			NA	1373132	Standard	NM_004079	NM_001199739	NA	Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.818C>T	1.37:g.150720331G>A	ENSP00000357981:p.Thr273Ile	NA	D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	37	CCDS968.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.341288	0.41498	.	.	ENSG00000163131	ENST00000448301;ENST00000368985	D;T	0.87412	-2.25;1.91	5.4	4.42	0.53409	Peptidase C1A, papain C-terminal (2);	0.269717	0.41605	D	0.000842	D	0.86029	0.5835	N	0.26130	0.795	0.41652	D	0.989139	D;P	0.67145	0.996;0.883	D;P	0.70935	0.971;0.738	D	0.88321	0.2962	10	0.87932	D	0	.	13.6284	0.62181	0.0:0.0:0.8444:0.1556	.	223;273	B4DWC9;P25774	.;CATS_HUMAN	I	223;273	ENSP00000408414:T223I;ENSP00000357981:T273I	ENSP00000357981:T273I	T	-	2	0	CTSS	148986955	0.920000	0.31207	0.940000	0.37924	0.066000	0.16364	1.569000	0.36428	2.521000	0.84997	0.655000	0.94253	ACT	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084737.1		-	ENST00000368985.3	Missense_Mutation	SNP	1 : 150720331 - 150720331 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	660	114
ZNF641	121274	broad.mit.edu	37	12	48736841	48736841	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48736841C>T	ENST00000544117.2	-	6	1940	c.1232G>A	c.(1231-1233)cGa>cAa	p.R411Q	ZNF641_ENST00000547026.1_Missense_Mutation_p.R397Q|ZNF641_ENST00000448928.3_Missense_Mutation_p.R388Q|ZNF641_ENST00000301042.3_Missense_Mutation_p.R411Q			Q96N77	ZN641_HUMAN	zinc finger protein 641	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						GTGATGTTTTCGGCCAAAGCT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	86	87			NA	NA	12		NA											NA				48736841		2203	4300	6503	SO:0001583	missense			BC018090	CCDS8763.1, CCDS53787.1, CCDS53788.1	12q13.11	2013-01-08				ENSG00000167528	121274	121274		Zinc fingers, C2H2-type, -	31834	protein-coding gene	gene with protein product		613906			NA		Standard	NM_152320	NM_152320	NA	Approved	FLJ31295	uc001rro.2	Q96N77		ENST00000544117.2:c.1232G>A	12.37:g.48736841C>T	ENSP00000437832:p.Arg411Gln	NA	Q8TCQ7|Q8WVE1	37	CCDS8763.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859147	0.71834	.	.	ENSG00000167528	ENST00000301042;ENST00000544117;ENST00000448928;ENST00000547026	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	5.66	4.76	0.60689	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.095436	0.47455	D	0.000237	T	0.17492	0.0420	L	0.41415	1.275	0.32144	N	0.585131	P;P	0.44478	0.836;0.496	B;B	0.29716	0.106;0.041	T	0.13229	-1.0517	10	0.07482	T	0.82	.	13.1879	0.59693	0.0:0.918:0.0:0.082	.	388;411	B4DNU5;Q96N77	.;ZN641_HUMAN	Q	411;411;388;397	ENSP00000301042:R411Q;ENSP00000437832:R411Q;ENSP00000394627:R388Q;ENSP00000449974:R397Q	ENSP00000301042:R411Q	R	-	2	0	ZNF641	47023108	0.000000	0.05858	1.000000	0.80357	0.992000	0.81027	-0.443000	0.06862	2.824000	0.97209	0.655000	0.94253	CGA	ZNF641-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406518.1		-	ENST00000544117.2	Missense_Mutation	SNP	12 : 48736841 - 48736841 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	642	114
PLXDC1	57125	broad.mit.edu	37	17	37262146	37262146	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37262146C>T	ENST00000315392.4	-	7	983	c.772G>A	c.(772-774)Gat>Aat	p.D258N	PLXDC1_ENST00000539608.1_Missense_Mutation_p.D185N|PLXDC1_ENST00000394316.2_Missense_Mutation_p.D258N|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.D218N	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	258					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						ATGAAGGCATCCGATAGGCCG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	134	135			NA	NA	17		NA											NA				37262146		2203	4300	6503	SO:0001583	missense			AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381	57125	57125			20945	protein-coding gene	gene with protein product	tumor endothelial marker 7 precursor	606826			NA	10947988, 11559528	Standard	NM_020405	NM_020405	NA	Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.772G>A	17.37:g.37262146C>T	ENSP00000323927:p.Asp258Asn	NA	B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	37	CCDS11333.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604905	0.46423	.	.	ENSG00000161381	ENST00000315392;ENST00000394318;ENST00000539608;ENST00000444911;ENST00000394316;ENST00000441877	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	5.23	5.23	0.72850	.	0.114353	0.64402	D	0.000019	D	0.88640	0.6491	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90222	0.4272	10	0.87932	D	0	-21.06	15.5258	0.75905	0.0:1.0:0.0:0.0	.	258	Q8IUK5	PXDC1_HUMAN	N	258;185;185;218;258;185	ENSP00000323927:D258N;ENSP00000441881:D185N;ENSP00000409687:D218N;ENSP00000377851:D258N;ENSP00000393227:D185N	ENSP00000323927:D258N	D	-	1	0	PLXDC1	34515672	1.000000	0.71417	0.420000	0.26596	0.590000	0.36582	7.079000	0.76829	2.440000	0.82611	0.561000	0.74099	GAT	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256892.2		-	ENST00000315392.4	Missense_Mutation	SNP	17 : 37262146 - 37262146 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	909	174
TGFBRAP1	9392	broad.mit.edu	37	2	105915065	105915065	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:105915065C>T	ENST00000393359.2	-	3	1212	c.786G>A	c.(784-786)gcG>gcA	p.A262A	TGFBRAP1_ENST00000258449.1_Silent_p.A262A			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	262	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	p.A262A(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CGTCATCGAGCGCTATGACGT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(183;794 2019 9730 21801 48859)							NA				1	Substitution - coding silent(1)	kidney(1)											106	96	99			NA	NA	2		NA											NA				105915065		2203	4300	6503	SO:0001819	synonymous_variant			AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966	9392	9392			16836	protein-coding gene	gene with protein product		606237			NA	9545258, 11278302	Standard	NM_004257	NM_001142621	NA	Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.786G>A	2.37:g.105915065C>T		NA	A8K5R7|D3DVJ8|O60466	37	CCDS2067.1																																																																																			TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253354.2		-	ENST00000393359.2	Silent	SNP	2 : 105915065 - 105915065 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	514	139
AFF2	2334	broad.mit.edu	37	X	148072854	148072854	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:148072854T>G	ENST00000370460.2	+	21	4407	c.3928T>G	c.(3928-3930)Ttg>Gtg	p.L1310V	AFF2_ENST00000342251.3_Missense_Mutation_p.L1277V|AFF2_ENST00000370457.5_Missense_Mutation_p.L1275V|AFF2_ENST00000286437.5_Missense_Mutation_p.L951V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1310					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CGATGCCCACTTGTTGTAGTG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													224	148	174			NA	NA	X		NA											NA				148072854		2203	4300	6503	SO:0001583	missense			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966	2334	2334			3776	protein-coding gene	gene with protein product		300806	fragile X mental retardation 2	FMR2	NA		Standard	NM_002025	NM_002025	NA	Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3928T>G	X.37:g.148072854T>G	ENSP00000359489:p.Leu1310Val	NA	A2RTY4|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	37	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	T	16.70	3.195460	0.58126	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;D	0.82167	-0.89;-1.16;-1.16;-1.58	5.46	2.74	0.32292	.	0.000000	0.56097	D	0.000021	D	0.86293	0.5898	L	0.47716	1.5	0.42839	D	0.994048	B;P;B;D;D;D	0.89917	0.361;0.526;0.342;1.0;1.0;0.999	B;P;B;D;D;D	0.83275	0.235;0.825;0.367;0.996;0.996;0.991	D	0.85580	0.1239	10	0.66056	D	0.02	.	9.8601	0.41109	0.0:0.1681:0.0:0.8319	.	951;1275;1275;1271;1300;1310	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	V	1310;1275;1277;951	ENSP00000359489:L1310V;ENSP00000359486:L1275V;ENSP00000345459:L1277V;ENSP00000286437:L951V	ENSP00000286437:L951V	L	+	1	2	AFF2	147880560	1.000000	0.71417	0.999000	0.59377	0.792000	0.44763	2.860000	0.48372	0.718000	0.32166	-0.330000	0.08379	TTG	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058673.2		+	ENST00000370460.2	Missense_Mutation	SNP	X : 148072854 - 148072854 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	607	176
SEMA6C	10500	broad.mit.edu	37	1	151105814	151105814	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151105814G>A	ENST00000341697.3	-	19	3630	c.1939C>T	c.(1939-1941)Cgc>Tgc	p.R647C				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	647						integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAGAGAGGGCGCGGGAGCCCC	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	17	15			NA	NA	1		NA											NA				151105814		2183	4269	6452	SO:0001583	missense			AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434	10500	10500		Semaphorins	10740	protein-coding gene	gene with protein product	m-Sema Y2	609294			NA	12110693	Standard	NM_030913	NM_030913	NA	Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1939C>T	1.37:g.151105814G>A	ENSP00000344148:p.Arg647Cys	NA	D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	37	CCDS984.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933014	0.73442	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	3.89	3.89	0.44902	.	1.906560	0.02651	N	0.106464	T	0.63343	0.2503	N	0.21282	0.65	0.45108	D	0.998121	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.94;0.988	T	0.59941	-0.7359	10	0.49607	T	0.09	.	8.7857	0.34818	0.0:0.0:0.7751:0.2249	.	639;679;647	Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;SEM6C_HUMAN	C	647;639;679;647	ENSP00000357910:R647C;ENSP00000357908:R639C;ENSP00000357909:R679C;ENSP00000344148:R647C	ENSP00000344148:R647C	R	-	1	0	SEMA6C	149372438	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.046000	0.57376	1.999000	0.58509	0.561000	0.74099	CGC	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034074.1		-	ENST00000341697.3	Missense_Mutation	SNP	1 : 151105814 - 151105814 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	106	25
F5	2153	broad.mit.edu	37	1	169524540	169524540	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169524540G>T	ENST00000367796.3	-	7	1199	c.998C>A	c.(997-999)aCc>aAc	p.T333N	F5_ENST00000546081.1_Missense_Mutation_p.T196N|F5_ENST00000367797.3_Missense_Mutation_p.T333N			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	333					cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AAGATTCCTGGTTTTCTTTGG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	99	101			NA	NA	1		NA											NA				169524540		2203	4300	6503	SO:0001583	missense			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734	2153	2153			3542	protein-coding gene	gene with protein product		612309			NA		Standard	NM_000130	NM_000130	NA	Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367796.3:c.998C>A	1.37:g.169524540G>T	ENSP00000356770:p.Thr333Asn	NA	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	37		.	.	.	.	.	.	.	.	.	.	G	13.63	2.295812	0.40594	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	D;D;D	0.98849	-5.18;-5.18;-5.18	5.69	5.69	0.88448	Cupredoxin (1);	0.496516	0.23023	N	0.052831	D	0.97309	0.9120	L	0.28274	0.84	0.30198	N	0.798902	D	0.89917	1.0	D	0.69307	0.963	D	0.96481	0.9356	9	0.36615	T	0.2	-20.7416	10.324	0.43783	0.1456:0.0:0.8544:0.0	.	333	P12259	FA5_HUMAN	N	333;333;196	ENSP00000356771:T333N;ENSP00000356770:T333N;ENSP00000439664:T196N	ENSP00000356770:T333N	T	-	2	0	F5	167791164	0.993000	0.37304	0.969000	0.41365	0.836000	0.47400	2.382000	0.44345	2.701000	0.92244	0.644000	0.83932	ACC	F5-002	NOVEL	not_organism_supported|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000083713.1		-	ENST00000367796.3	Missense_Mutation	SNP	1 : 169524540 - 169524540 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	414	115
C22orf31	25770	broad.mit.edu	37	22	29455169	29455169	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29455169C>T	ENST00000216071.4	-	3	485	c.434G>A	c.(433-435)aGt>aAt	p.S145N		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	145										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						ACTTTCTTTACTCTAGCCAGG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	69	70			NA	NA	22		NA											NA				29455169		2203	4300	6503	SO:0001630	splice_region_variant			AL035364	CCDS13848.1	22q12.1	2006-07-05			ENSG00000100249	ENSG00000100249	25770	25770			26931	protein-coding gene	gene with protein product					NA	15461802	Standard	NM_015370	XM_005261490	NA	Approved	HS747E2A, bK747E2.1	uc003aej.1	O95567	OTTHUMG00000151011	ENST00000216071.4:c.433-1G>A	22.37:g.29455169C>T		NA	A0AV97	37	CCDS13848.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768448	0.49680	.	.	ENSG00000100249	ENST00000216071	T	0.37058	1.22	5.64	4.63	0.57726	.	0.427481	0.24094	N	0.041604	T	0.27169	0.0666	L	0.27053	0.805	0.27086	N	0.962966	B	0.19073	0.033	B	0.26202	0.067	T	0.18272	-1.0342	10	0.45353	T	0.12	-2.0501	10.3455	0.43903	0.0:0.9126:0.0:0.0874	.	145	O95567	CV031_HUMAN	N	145	ENSP00000216071:S145N	ENSP00000216071:S145N	S	-	2	0	C22orf31	27785169	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.988000	0.40697	1.628000	0.50416	0.650000	0.86243	AGT	C22orf31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320952.1	Missense_Mutation	-	ENST00000216071.4	Splice_Site	SNP	22 : 29455169 - 29455169 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	410	18
GFRA3	2676	broad.mit.edu	37	5	137599964	137599964	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137599964C>T	ENST00000274721.3	-	2	611	c.365G>A	c.(364-366)cGt>cAt	p.R122H	GFRA3_ENST00000378362.3_Missense_Mutation_p.R122H	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	122					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCTGCGGGCACGGTGAACGGT	0.547		NA											C	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	2e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	0.0011	SNP								NA				0													79	72	74			NA	NA	5		NA											NA				137599964		2203	4300	6503	SO:0001583	missense			AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013	2676	2676			4245	protein-coding gene	gene with protein product		605710			NA	9407096	Standard	NM_001496	NM_001496	NA	Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.365G>A	5.37:g.137599964C>T	ENSP00000274721:p.Arg122His	NA	B2RA36|B4DMY9|Q6UW20|Q8IUZ2	37	CCDS4201.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.48	1.950022	0.34377	.	.	ENSG00000146013	ENST00000274721;ENST00000378362	T;T	0.64438	-0.1;-0.1	5.28	0.0964	0.14490	GDNF/GAS1 (2);	0.765819	0.12459	N	0.467035	T	0.29850	0.0746	N	0.02539	-0.55	0.21984	N	0.999434	B;B	0.11235	0.003;0.004	B;B	0.06405	0.001;0.002	T	0.14392	-1.0474	10	0.46703	T	0.11	-0.0074	3.0095	0.06039	0.0881:0.3216:0.3285:0.2617	.	122;122	O60609-2;O60609	.;GFRA3_HUMAN	H	122	ENSP00000274721:R122H;ENSP00000367613:R122H	ENSP00000274721:R122H	R	-	2	0	GFRA3	137627863	0.976000	0.34144	0.920000	0.36463	0.855000	0.48748	0.208000	0.17415	-0.326000	0.08564	-0.291000	0.09656	CGT	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251277.1		-	ENST00000274721.3	Missense_Mutation	SNP	5 : 137599964 - 137599964 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	473	61
EYA2	2139	broad.mit.edu	37	20	45801458	45801458	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45801458G>A	ENST00000327619.5	+	12	1515	c.1141G>A	c.(1141-1143)Gcc>Acc	p.A381T	EYA2_ENST00000317304.6_Missense_Mutation_p.A351T|EYA2_ENST00000357410.3_Missense_Mutation_p.A381T	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	381				A -> S (in Ref. 7; AAB42065).	DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GAGGAAGCTGGCCTTCCGCTA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(120;56 1725 18501 25218 43520)							NA				0													96	79	85			NA	NA	20		NA											NA				45801458		2203	4300	6503	SO:0001583	missense				CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655	2139	2139		Protein tyrosine phosphatases / Asp-based PTPs	3520	protein-coding gene	gene with protein product		601654	eyes absent (Drosophila) homolog 2, eyes absent homolog 2 (Drosophila)		NA	9020840	Standard	NM_005244	NM_005244	NA	Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.1141G>A	20.37:g.45801458G>A	ENSP00000333640:p.Ala381Thr	NA	Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	37	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	G	36	5.719770	0.96839	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304	D;D;D	0.82433	-1.61;-1.61;-1.61	5.59	5.59	0.84812	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.93141	0.7816	M	0.89601	3.045	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.91635	0.992;0.999;0.998;0.997	D	0.94016	0.7288	10	0.87932	D	0	-13.2396	19.5758	0.95444	0.0:0.0:1.0:0.0	.	381;351;381;381	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	T	381;381;351;351	ENSP00000333640:A381T;ENSP00000349986:A381T;ENSP00000321590:A351T	ENSP00000321590:A351T	A	+	1	0	EYA2	45234865	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.755000	0.98912	2.632000	0.89209	0.655000	0.94253	GCC	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080326.2		+	ENST00000327619.5	Missense_Mutation	SNP	20 : 45801458 - 45801458 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	631	103
TPR	7175	broad.mit.edu	37	1	186319457	186319457	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186319457C>A	ENST00000367478.4	-	21	2970	c.2674G>T	c.(2674-2676)Gaa>Taa	p.E892*		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	NA					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTTAATAGTTCTTTTGTGTTA	0.318		NA	T	NTRK1	papillary thyroid									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1q25	7175	translocated promoter region		E	0													186	170	175			NA	NA	1		NA											NA				186319457		1821	4081	5902	SO:0001587	stop_gained			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410	7175	7175			12017	protein-coding gene	gene with protein product		189940	translocated promoter region (to activated MET oncogene)		NA	1611909, 15229283	Standard	NM_003292	NM_003292	NA	Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.2674G>T	1.37:g.186319457C>A	ENSP00000356448:p.Glu892*	NA	Q15655|Q5SWY0	37	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	44	10.646956	0.99444	.	.	ENSG00000047410	ENST00000367478	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	20.2405	0.98372	0.0:1.0:0.0:0.0	.	.	.	.	X	892	.	ENSP00000356448:E892X	E	-	1	0	TPR	184586080	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.310000	0.72830	2.797000	0.96272	0.561000	0.74099	GAA	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086353.2		-	ENST00000367478.4	Nonsense_Mutation	SNP	1 : 186319457 - 186319457 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	206	32
CENPF	1063	broad.mit.edu	37	1	214813956	214813956	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214813956G>A	ENST00000366955.3	+	12	2443	c.2275G>A	c.(2275-2277)Gaa>Aaa	p.E759K		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	759					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CTTGCATGCCGAATATGAGAG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(80;575 1284 11000 14801 43496)							NA				0													53	54	54			NA	NA	1		NA											NA				214813956		2203	4300	6503	SO:0001583	missense			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724	1063	1063			1857	protein-coding gene	gene with protein product	mitosin	600236	centromere protein F, 350/400kDa (mitosin)		NA	7904902, 7851898	Standard	NM_016343	NM_016343	NA	Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.2275G>A	1.37:g.214813956G>A	ENSP00000355922:p.Glu759Lys	NA	Q13171|Q13246|Q5VVM7	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119815	0.37436	.	.	ENSG00000117724	ENST00000366955	T	0.05447	3.44	5.59	3.6	0.41247	.	0.000000	0.38897	N	0.001534	T	0.16981	0.0408	.	.	.	0.26475	N	0.975212	D	0.76494	0.999	P	0.61592	0.891	T	0.01635	-1.1307	9	0.48119	T	0.1	.	11.1868	0.48662	0.0766:0.2134:0.71:0.0	.	759	P49454	CENPF_HUMAN	K	759	ENSP00000355922:E759K	ENSP00000355922:E759K	E	+	1	0	CENPF	212880579	0.726000	0.28059	0.045000	0.18777	0.323000	0.28346	1.106000	0.31098	1.372000	0.46190	-0.192000	0.12808	GAA	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089749.1		+	ENST00000366955.3	Missense_Mutation	SNP	1 : 214813956 - 214813956 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	293	17
ATG2B	55102	broad.mit.edu	37	14	96813603	96813603	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96813603A>G	ENST00000359933.4	-	2	1131	c.238T>C	c.(238-240)Tca>Cca	p.S80P		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	80										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CATGGAACTGACAGGGAAATT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	97	97			NA	NA	14		NA											NA				96813603		1966	4172	6138	SO:0001583	missense			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739	55102	55102			20187	protein-coding gene	gene with protein product			chromosome 14 open reading frame 103, ATG2 autophagy related 2 homolog B (S. cerevisiae)	C14orf103	NA	22350415	Standard	NM_018036	NM_018036	NA	Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.238T>C	14.37:g.96813603A>G	ENSP00000353010:p.Ser80Pro	NA	Q6ZRE7|Q96DQ3|Q9NW80	37	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	A	18.89	3.720166	0.68844	.	.	ENSG00000066739	ENST00000359933	D	0.83163	-1.69	5.39	5.39	0.77823	.	0.082874	0.49916	U	0.000134	D	0.88923	0.6569	M	0.71581	2.175	0.45227	D	0.998237	D	0.60575	0.988	P	0.59357	0.856	D	0.89978	0.4098	10	0.62326	D	0.03	.	15.3981	0.74812	1.0:0.0:0.0:0.0	.	80	Q96BY7	ATG2B_HUMAN	P	80	ENSP00000353010:S80P	ENSP00000353010:S80P	S	-	1	0	ATG2B	95883356	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.667000	0.68067	2.046000	0.60703	0.459000	0.35465	TCA	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000314037.1		-	ENST00000359933.4	Missense_Mutation	SNP	14 : 96813603 - 96813603 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	233	34
ARHGEF1	9138	broad.mit.edu	37	19	42396876	42396876	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42396876G>T	ENST00000599846.1	+	7	695	c.570G>T	c.(568-570)gaG>gaT	p.E190D	ARHGEF1_ENST00000337665.4_Missense_Mutation_p.E205D|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.E157D|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.E172D|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.E190D			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	190	RGSL.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		AGGCCCGGGAGCGGCACGTGG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	17	16			NA	NA	19		NA											NA				42396876		2196	4288	6484	SO:0001583	missense			U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928	9138	9138		Rho guanine nucleotide exchange factors	681	protein-coding gene	gene with protein product		601855			NA	8810315, 9135076	Standard	NM_199002	NM_004706	NA	Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000599846.1:c.570G>T	19.37:g.42396876G>T	ENSP00000470715:p.Glu190Asp	NA	O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	37		.	.	.	.	.	.	.	.	.	.	G	18.52	3.641038	0.67244	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000316079;ENST00000337665;ENST00000378152	D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27	4.32	-0.579	0.11720	Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.139750	0.45126	N	0.000394	D	0.90456	0.7011	M	0.76838	2.35	0.36530	D	0.870656	D;D;D;D;D	0.76494	0.999;0.999;0.996;0.998;0.999	D;D;D;D;D	0.83275	0.996;0.99;0.987;0.954;0.994	D	0.87937	0.2714	10	0.52906	T	0.07	-23.3088	5.5374	0.17020	0.2854:0.1504:0.5642:0.0	.	172;205;157;190;250	Q6NX52;Q92888-3;Q92888-2;Q92888;Q8NF33	.;.;.;ARHG1_HUMAN;.	D	190;157;226;205;172	ENSP00000346532:E190D;ENSP00000344429:E157D;ENSP00000337261:E205D;ENSP00000367394:E172D	ENSP00000323044:E226D	E	+	3	2	ARHGEF1	47088716	1.000000	0.71417	0.999000	0.59377	0.820000	0.46376	1.784000	0.38674	0.059000	0.16252	0.306000	0.20318	GAG	ARHGEF1-010	PUTATIVE	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000463362.1		+	ENST00000599846.1	Missense_Mutation	SNP	19 : 42396876 - 42396876 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	135	29
TUBGCP6	85378	broad.mit.edu	37	22	50682221	50682221	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50682221G>A	ENST00000248846.5	-	1	772	c.668C>T	c.(667-669)aCt>aTt	p.T223I	TUBGCP6_ENST00000439308.2_Missense_Mutation_p.T223I			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	223					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CATGTCATAAGTGCGGCTGTG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	46	45			NA	NA	22		NA											NA				50682221		2203	4300	6503	SO:0001583	missense			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159	85378	85378			18127	protein-coding gene	gene with protein product	gamma-tubulin complex component 6	610053			NA	11694571, 11258795	Standard	NM_020461	XR_244458	NA	Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.668C>T	22.37:g.50682221G>A	ENSP00000248846:p.Thr223Ile	NA	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	37	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564894	0.86439	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.19806	2.46;2.12	4.17	4.17	0.49024	.	0.066129	0.64402	D	0.000014	T	0.44561	0.1299	M	0.69823	2.125	0.54753	D	0.99998	D;D;D	0.76494	0.998;0.996;0.999	D;D;D	0.66497	0.919;0.918;0.944	T	0.50048	-0.8873	10	0.72032	D	0.01	.	16.2595	0.82533	0.0:0.0:1.0:0.0	.	223;223;223	A7E2V7;B2RWN4;Q96RT7	.;.;GCP6_HUMAN	I	223	ENSP00000248846:T223I;ENSP00000397387:T223I	ENSP00000248846:T223I	T	-	2	0	TUBGCP6	49024348	1.000000	0.71417	0.848000	0.33437	0.725000	0.41563	9.236000	0.95360	2.150000	0.67090	0.555000	0.69702	ACT	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075004.3		-	ENST00000248846.5	Missense_Mutation	SNP	22 : 50682221 - 50682221 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	287	44
H2BFM	286436	broad.mit.edu	37	X	103295409	103295409	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:103295409C>T	ENST00000355016.3	+	2	471	c.443C>T	c.(442-444)gCg>gTg	p.A148V	H2BFM_ENST00000243297.5_Missense_Mutation_p.A251V	NM_001164416.1	NP_001157888.1			H2B histone family, member M	NA										endometrium(1)|lung(1)|ovary(1)	3						tcattatgtgcgatatggcaa	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													330	225	257			NA	NA	X		NA											NA				103295409		692	1591	2283	SO:0001583	missense			AK093522	CCDS55468.1	Xq22.2	2011-01-27			ENSG00000101812	ENSG00000101812	286436	286436		Histones / Replication-independent	27867	protein-coding gene	gene with protein product					NA		Standard	XM_210048	NM_001164416	NA	Approved		uc004els.2	P0C1H6	OTTHUMG00000022122	ENST00000355016.3:c.443C>T	X.37:g.103295409C>T	ENSP00000347119:p.Ala148Val	NA		37	CCDS55468.1	.	.	.	.	.	.	.	.	.	.	.	5.282	0.237410	0.10023	.	.	ENSG00000101812	ENST00000243297;ENST00000355016;ENST00000417637	T;T	0.22539	2.03;1.95	1.69	-3.17	0.05202	Histone-fold (1);	32.229500	0.00166	N	0.000004	T	0.20659	0.0497	N	0.19112	0.55	0.09310	N	1	D	0.71674	0.998	P	0.54629	0.757	T	0.12268	-1.0554	10	0.66056	D	0.02	.	2.6036	0.04872	0.2528:0.447:0.0:0.3002	.	251	P0C1H6	H2BFM_HUMAN	V	251;148;46	ENSP00000243297:A251V;ENSP00000347119:A148V	ENSP00000243297:A251V	A	+	2	0	H2BFM	103182065	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.243000	0.08915	-0.893000	0.03930	-0.444000	0.05651	GCG	H2BFM-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057758.2		+	ENST00000355016.3	Missense_Mutation	SNP	X : 103295409 - 103295409 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	77	27
ZNF423	23090	broad.mit.edu	37	16	49670091	49670091	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:49670091C>T	ENST00000561648.1	-	4	3025	c.2972G>A	c.(2971-2973)cGc>cAc	p.R991H	ZNF423_ENST00000262383.2_Missense_Mutation_p.R991H|ZNF423_ENST00000562520.1_Missense_Mutation_p.R931H|ZNF423_ENST00000535559.1_Missense_Mutation_p.R874H|ZNF423_ENST00000567169.1_Missense_Mutation_p.R874H|ZNF423_ENST00000562871.1_Missense_Mutation_p.R931H|ZNF423_ENST00000563137.2_Missense_Mutation_p.R931H	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	991					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CTTGCAGATGCGACAGGTGCC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	50	51			NA	NA	16		NA											NA				49670091		2199	4300	6499	SO:0001583	missense			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935	23090	23090		Zinc fingers, C2H2-type	16762	protein-coding gene	gene with protein product	OLF-1/EBF associated zinc finger gene,  Smad- and Olf-interacting zinc finger protein, early B-cell factor associated zinc finger protein	604557			NA	9872452, 10660046	Standard	NM_015069	NM_001271620	NA	Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.2972G>A	16.37:g.49670091C>T	ENSP00000455426:p.Arg991His	NA	O94860|Q76N04|Q9NZ13	37	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523857	0.85600	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.09911	2.93;2.97	4.81	4.81	0.61882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.20820	0.0501	N	0.24115	0.695	0.54753	D	0.999989	D	0.89917	1.0	D	0.91635	0.999	T	0.07501	-1.0769	9	.	.	.	-48.8797	17.8857	0.88854	0.0:1.0:0.0:0.0	.	991	Q2M1K9	ZN423_HUMAN	H	991;874	ENSP00000262383:R991H;ENSP00000442321:R874H	.	R	-	2	0	ZNF423	48227592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.234000	0.73211	0.561000	0.74099	CGC	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000423258.1		-	ENST00000561648.1	Missense_Mutation	SNP	16 : 49670091 - 49670091 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	193	45
PRR12	57479	broad.mit.edu	37	19	50099477	50099477	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50099477G>T	ENST00000418929.2	+	4	1897	c.1885G>T	c.(1885-1887)Ggt>Tgt	p.G629C		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	393	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GGCGGGCCCAGGTGGGCCTCC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	20	18			NA	NA	19		NA											NA				50099477		1966	4143	6109	SO:0001583	missense			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464	57479	57479			29217	protein-coding gene	gene with protein product			KIAA1205	KIAA1205	NA	10574462	Standard	NM_020719	NM_020719	NA	Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.1885G>T	19.37:g.50099477G>T	ENSP00000394510:p.Gly629Cys	NA	E9PB06|Q8N4J6	37	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	3.307	-0.141698	0.06669	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.9	1.72	0.24424	.	.	.	.	.	T	0.44623	0.1302	.	.	.	0.09310	N	1	D	0.54964	0.969	P	0.50490	0.642	T	0.28170	-1.0052	7	0.66056	D	0.02	.	7.675	0.28480	0.2088:0.0:0.7912:0.0	.	629	Q9ULL5-3	.	C	629	.	ENSP00000394510:G629C	G	+	1	0	PRR12	54791289	0.095000	0.21747	0.096000	0.21009	0.741000	0.42261	0.801000	0.27055	0.439000	0.26476	0.289000	0.19496	GGT	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465915.1		+	ENST00000418929.2	Missense_Mutation	SNP	19 : 50099477 - 50099477 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	215	36
GRID2	2895	broad.mit.edu	37	4	94547517	94547517	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:94547517C>A	ENST00000282020.4	+	14	2549	c.2291C>A	c.(2290-2292)aCt>aAt	p.T764N	GRID2_ENST00000510992.1_Missense_Mutation_p.T669N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	764					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ATTGGAAATACTGTTGCTGAT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													196	175	182			NA	NA	4		NA											NA				94547517		2203	4300	6503	SO:0001583	missense			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208	2895	2895		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4576	protein-coding gene	gene with protein product		602368			NA	9465309	Standard		NM_001510	NA	Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2291C>A	4.37:g.94547517C>A	ENSP00000282020:p.Thr764Asn	NA	Q4KKU9|Q4KKV0|Q59FZ1	37	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803975	0.31869	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.11385	2.78;2.78	5.13	5.13	0.70059	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.088108	0.85682	D	0.000000	T	0.06645	0.0170	N	0.03154	-0.405	0.42195	D	0.991745	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.40608	-0.9554	10	0.38643	T	0.18	.	18.9243	0.92538	0.0:1.0:0.0:0.0	.	669;764	E9PH24;O43424	.;GRID2_HUMAN	N	764;669	ENSP00000282020:T764N;ENSP00000421257:T669N	ENSP00000282020:T764N	T	+	2	0	GRID2	94766540	0.991000	0.36638	0.539000	0.28077	0.966000	0.64601	2.961000	0.49168	2.542000	0.85734	0.484000	0.47621	ACT	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253588.2		+	ENST00000282020.4	Missense_Mutation	SNP	4 : 94547517 - 94547517 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	589	118
DPM3	54344	broad.mit.edu	37	1	155112460	155112460	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155112460G>A	ENST00000368399.1	-	1	423	c.347C>T	c.(346-348)gCc>gTc	p.A116V	DPM3_ENST00000341298.3_Missense_Mutation_p.A86V|DPM3_ENST00000368400.4_Missense_Mutation_p.A86V	NM_018973.3	NP_061846.2	Q9P2X0	DPM3_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 3	86					C-terminal protein lipidation|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan|protein N-linked glycosylation via asparagine|protein O-linked mannosylation|regulation of protein stability	dolichol-phosphate-mannose synthase complex|integral to endoplasmic reticulum membrane	protein binding			endometrium(2)	2	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCCCCTGCGGGCTAAGTCGGC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	60	58			NA	NA	1		NA											NA				155112460		2203	4300	6503	SO:0001583	missense			AB028128	CCDS1094.1, CCDS1095.1	1q22	2013-02-26			ENSG00000179085	ENSG00000179085	54344	54344			3007	protein-coding gene	gene with protein product	DPM synthase complex subunit	605951			NA	10835346	Standard	NM_153741	NM_018973	NA	Approved	MGC34275, MGC125904, MGC125905	uc001fhm.3	Q9P2X0	OTTHUMG00000035335	ENST00000368399.1:c.347C>T	1.37:g.155112460G>A	ENSP00000357384:p.Ala116Val	NA	Q5SR63|Q9BXN4|Q9BXN5	37	CCDS1094.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.569405	0.45798	.	.	ENSG00000179085	ENST00000368399;ENST00000368400;ENST00000341298	T;T;T	0.77489	-1.1;-1.1;-1.1	4.8	2.93	0.34026	.	0.496026	0.21280	N	0.077179	T	0.64472	0.2601	L	0.50333	1.59	0.32035	N	0.598941	B;D	0.53312	0.062;0.959	B;P	0.49922	0.081;0.626	T	0.60352	-0.7280	10	0.39692	T	0.17	0.0123	8.8551	0.35223	0.1834:0.0:0.8166:0.0	.	86;162	Q9P2X0;B4DEH1	DPM3_HUMAN;.	V	116;86;86	ENSP00000357384:A116V;ENSP00000357385:A86V;ENSP00000344338:A86V	ENSP00000344338:A86V	A	-	2	0	DPM3	153379084	0.241000	0.23857	0.840000	0.33206	0.821000	0.46438	0.524000	0.22940	0.635000	0.30488	-0.140000	0.14226	GCC	DPM3-003	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085520.1		-	ENST00000368399.1	Missense_Mutation	SNP	1 : 155112460 - 155112460 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	637	130
PIK3R2	5296	broad.mit.edu	37	19	18279918	18279918	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18279918C>A	ENST00000593731.1	+	16	2561	c.2001C>A	c.(1999-2001)caC>caA	p.H667Q	PIK3R2_ENST00000222254.8_Missense_Mutation_p.H667Q			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	667	SH2 2.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						ACACCAAGCACTGCGTCATCT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	40	41			NA	NA	19		NA											NA				18279918		2203	4300	6503	SO:0001583	missense				CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647	5296	5296		SH2 domain containing	8980	protein-coding gene	gene with protein product		603157			NA	1314371	Standard	NM_005027	NM_005027	NA	Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.2001C>A	19.37:g.18279918C>A	ENSP00000471914:p.His667Gln	NA	Q5EAT5|Q9UPH9	37	CCDS12371.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627696	0.87560	.	.	ENSG00000105647	ENST00000222254	D	0.91792	-2.91	4.12	4.12	0.48240	SH2 motif (4);	0.054146	0.64402	D	0.000001	D	0.97514	0.9186	H	0.97315	3.98	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99066	1.0832	10	0.87932	D	0	-33.9436	16.2136	0.82186	0.0:1.0:0.0:0.0	.	667	O00459	P85B_HUMAN	Q	667	ENSP00000222254:H667Q	ENSP00000222254:H667Q	H	+	3	2	PIK3R2	18140918	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.738000	0.62073	2.251000	0.74343	0.448000	0.29417	CAC	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000466386.2		+	ENST00000593731.1	Missense_Mutation	SNP	19 : 18279918 - 18279918 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	382	31
C16orf71	146562	broad.mit.edu	37	16	4790160	4790160	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4790160C>T	ENST00000590191.1	+	4	595	c.325C>T	c.(325-327)Ctg>Ttg	p.L109L	C16orf71_ENST00000299320.5_Silent_p.L95L|RP11-127I20.7_ENST00000588099.1_RNA			Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	95										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						ACAGCCAGTTCTGGTGCCTGC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	82	82			NA	NA	16		NA											NA				4790160		2197	4300	6497	SO:0001819	synonymous_variant			AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246	146562	146562			25081	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_139170	XM_005255144	NA	Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000590191.1:c.325C>T	16.37:g.4790160C>T		NA	Q8NCV0	37																																																																																				C16orf71-006	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000460400.1		+	ENST00000590191.1	Silent	SNP	16 : 4790160 - 4790160 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	570	27
COL28A1	340267	broad.mit.edu	37	7	7545675	7545675	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:7545675G>A	ENST00000399429.3	-	11	1136	c.996C>T	c.(994-996)gaC>gaT	p.D332D		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	332	Collagen-like 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TTGGGCCTGGGTCTCCTGGAG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,3706		0,0,1853	93	91	92		996	-5.9	0.5	7		92	1,8193		0,1,4096	no	coding-synonymous	COL28A1	NM_001037763.2		0,1,5949	AA,AG,GG	NA	0.0122,0.0,0.0084		332/1126	7545675	1,11899	1853	4097	5950	SO:0001819	synonymous_variant			AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018	340267	340267		Collagens	22442	protein-coding gene	gene with protein product		609996			NA	16330543	Standard	NM_001037763	NM_001037763	NA	Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.996C>T	7.37:g.7545675G>A		NA	A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	37	CCDS43553.1																																																																																			COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000315899.1		-	ENST00000399429.3	Silent	SNP	7 : 7545675 - 7545675 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	328	60
USP12	219333	broad.mit.edu	37	13	27643438	27643438	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27643438G>T	ENST00000282344.6	-	9	1351	c.1095C>A	c.(1093-1095)ttC>ttA	p.F365L		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	365					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		GAGACTGATAGAAAAGGATGT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(37;808 911 7590 44442 44991)							NA				0													111	105	107			NA	NA	13		NA											NA				27643438		2203	4300	6503	SO:0001583	missense			AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484	219333	219333		Ubiquitin-specific peptidases	20485	protein-coding gene	gene with protein product			ubiquitin specific protease 12 like 1, ubiquitin specific protease 12	USP12L1	NA	12838346	Standard	NM_182488	NM_182488	NA	Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.1095C>A	13.37:g.27643438G>T	ENSP00000282344:p.Phe365Leu	NA	A8K0X0|Q5VZV3|Q8TC49	37	CCDS31952.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844601	0.71488	.	.	ENSG00000152484	ENST00000282344	T	0.39056	1.1	5.36	5.36	0.76844	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.67107	0.2858	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69614	-0.5098	10	0.72032	D	0.01	-14.351	19.4565	0.94892	0.0:0.0:1.0:0.0	.	365	O75317	UBP12_HUMAN	L	365	ENSP00000282344:F365L	ENSP00000282344:F365L	F	-	3	2	USP12	26541438	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.339000	0.59322	2.682000	0.91365	0.650000	0.86243	TTC	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044264.1		-	ENST00000282344.6	Missense_Mutation	SNP	13 : 27643438 - 27643438 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	452	42
PREX1	57580	broad.mit.edu	37	20	47297832	47297832	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47297832T>G	ENST00000371941.3	-	11	1398	c.1376A>C	c.(1375-1377)aAg>aCg	p.K459T	PREX1_ENST00000396220.1_Missense_Mutation_p.K459T	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	459	DEP 1.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TTCTTCCGTCTTGCTGATTTC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													242	215	224			NA	NA	20		NA											NA				47297832		2203	4300	6503	SO:0001583	missense			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126	57580	57580		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	32594	protein-coding gene	gene with protein product		606905			NA	11955434, 15545267, 16301320	Standard	NM_020820	NM_020820	NA	Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.1376A>C	20.37:g.47297832T>G	ENSP00000361009:p.Lys459Thr	NA	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	t	19.23	3.788204	0.70337	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.11604	2.76;2.76	4.41	4.41	0.53225	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.233910	0.28349	U	0.015671	T	0.06096	0.0158	N	0.02658	-0.545	0.58432	D	0.999997	P	0.39131	0.661	B	0.42593	0.392	T	0.52741	-0.8535	10	0.30854	T	0.27	.	13.7239	0.62745	0.0:0.0:0.0:1.0	.	459	Q8TCU6	PREX1_HUMAN	T	459	ENSP00000361009:K459T;ENSP00000379522:K459T	ENSP00000361009:K459T	K	-	2	0	PREX1	46731239	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.960000	0.87893	1.636000	0.50526	0.468000	0.43344	AAG	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079623.1		-	ENST00000371941.3	Missense_Mutation	SNP	20 : 47297832 - 47297832 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1482	247
DNAH17	8632	broad.mit.edu	37	17	76565528	76565528	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76565528C>A	ENST00000585328.1	-	8	1250	c.1126G>T	c.(1126-1128)Gct>Tct	p.A376S	DNAH17_ENST00000389840.5_Missense_Mutation_p.A376S	NM_173628.3	NP_775899.3			dynein, axonemal, heavy chain 17	NA										NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACATTTACAGCCAGGGAGATG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	63	71			NA	NA	17		NA											NA				76565528		2203	4300	6503	SO:0001583	missense			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775	8632	8632		Axonemal dyneins	2946	protein-coding gene	gene with protein product		610063	dynein, axonemal, heavy polypeptide 17, dynein, axonemal, heavy chain like 1, dynein, axonemal, heavy like 1	DNAHL1	NA	9545504	Standard	NM_173628	NM_173628	NA	Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.1126G>T	17.37:g.76565528C>A	ENSP00000465516:p.Ala376Ser	NA		37		.	.	.	.	.	.	.	.	.	.	C	0.011	-1.696638	0.00725	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.55052	0.54	4.65	2.34	0.29019	.	0.538685	0.15187	N	0.275778	T	0.31796	0.0808	N	0.12502	0.225	0.09310	N	1	B	0.12013	0.005	B	0.19666	0.026	T	0.19128	-1.0315	10	0.12430	T	0.62	.	11.712	0.51630	0.4394:0.5606:0.0:0.0	.	78	Q9UFH2-4	.	S	376	ENSP00000374490:A376S	ENSP00000300671:A376S	A	-	1	0	DNAH17	74077123	0.391000	0.25221	0.521000	0.27850	0.023000	0.10783	0.593000	0.23999	0.163000	0.19507	-0.410000	0.06199	GCT	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000318962.2		-	ENST00000585328.1	Missense_Mutation	SNP	17 : 76565528 - 76565528 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	120	20
ACSM5	54988	broad.mit.edu	37	16	20430652	20430652	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20430652C>T	ENST00000331849.4	+	4	665	c.518C>T	c.(517-519)gCt>gTt	p.A173V	ACSM5_ENST00000575584.1_Missense_Mutation_p.A173V	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	173					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GACTCCCTAGCTCCAAGGGTG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	73	78			NA	NA	16		NA											NA				20430652		2203	4300	6503	SO:0001583	missense				CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549	54988	54988		Acyl-CoA synthetase family	26060	protein-coding gene	gene with protein product		614361			NA	17762044	Standard	NM_017888	NM_017888	NA	Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.518C>T	16.37:g.20430652C>T	ENSP00000327916:p.Ala173Val	NA	Q96AV1|Q96CX8|Q9NWV3	37	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946946	0.53186	.	.	ENSG00000183549	ENST00000331849	T	0.50001	0.76	4.65	3.7	0.42460	AMP-dependent synthetase/ligase (1);	0.000000	0.64402	D	0.000011	T	0.44329	0.1288	L	0.39147	1.195	0.40815	D	0.983451	P	0.45396	0.857	P	0.48400	0.576	T	0.37820	-0.9689	10	0.42905	T	0.14	-11.2626	9.1503	0.36959	0.0:0.8309:0.0:0.1691	.	173	Q6NUN0	ACSM5_HUMAN	V	173	ENSP00000327916:A173V	ENSP00000327916:A173V	A	+	2	0	ACSM5	20338153	0.994000	0.37717	0.897000	0.35233	0.471000	0.32888	3.242000	0.51384	1.303000	0.44873	0.650000	0.86243	GCT	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254413.1		+	ENST00000331849.4	Missense_Mutation	SNP	16 : 20430652 - 20430652 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	314	68
CERS5	91012	broad.mit.edu	37	12	50536960	50536960	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50536960G>T	ENST00000317551.6	-	3	455	c.331C>A	c.(331-333)Ctg>Atg	p.L111M	CERS5_ENST00000422340.2_Missense_Mutation_p.L53M	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	111					ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity				NA						TGCTTTGACAGGCCCTCCAGC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	141	139			NA	NA	12		NA											NA				50536960		2203	4300	6503	SO:0001583	missense				CCDS8801.1, CCDS61120.1	12q13.12	2014-09-04	2011-07-08	2011-07-08	ENSG00000139624		91012	91012		Homeoboxes / CERS class	23749	protein-coding gene	gene with protein product		615335	LAG1 longevity assurance homolog 5 (S. cerevisiae), LAG1 homolog, ceramide synthase 5	LASS5	NA		Standard	NM_147190	NM_147190	NA	Approved	Trh4, MGC45411, FLJ25304	uc001rwd.4	Q8N5B7	OTTHUMG00000169819	ENST00000317551.6:c.331C>A	12.37:g.50536960G>T	ENSP00000325485:p.Leu111Met	NA		37	CCDS8801.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.589259	0.66105	.	.	ENSG00000139624	ENST00000551005;ENST00000317551;ENST00000422340	D;D;D	0.98345	-3.01;-4.88;-4.88	4.53	4.53	0.55603	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000002	D	0.98960	0.9646	H	0.94423	3.535	0.53005	D	0.999967	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	D	0.99482	1.0948	10	0.87932	D	0	-7.5724	5.6363	0.17538	0.2401:0.0:0.7599:0.0	.	53;111;30	B4DV54;Q8N5B7;F8W0U5	.;CERS5_HUMAN;.	M	30;111;53	ENSP00000447556:L30M;ENSP00000325485:L111M;ENSP00000389050:L53M	ENSP00000325485:L111M	L	-	1	2	CERS5	48823227	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	2.189000	0.42621	2.518000	0.84900	0.655000	0.94253	CTG	CERS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406069.3		-	ENST00000317551.6	Missense_Mutation	SNP	12 : 50536960 - 50536960 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	955	172
C17orf74	201243	broad.mit.edu	37	17	7330031	7330031	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7330031C>T	ENST00000333870.3	+	3	795	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	241						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				ACCTGAGCTGCGCTGCATGCC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	48	46			NA	NA	17		NA											NA				7330031		2143	4249	6392	SO:0001583	missense			BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560	201243	201243			27315	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_175734	NM_175734	NA	Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.721C>T	17.37:g.7330031C>T	ENSP00000328061:p.Arg241Cys	NA		37	CCDS42255.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.474133	0.63737	.	.	ENSG00000184560	ENST00000333870	T	0.39056	1.1	3.51	3.51	0.40186	.	0.145422	0.31589	N	0.007383	T	0.50205	0.1602	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52563	-0.8559	10	0.87932	D	0	0.0672	10.8416	0.46720	0.0:1.0:0.0:0.0	.	241	Q0P670	CQ074_HUMAN	C	241	ENSP00000328061:R241C	ENSP00000328061:R241C	R	+	1	0	C17orf74	7270755	0.638000	0.27225	0.996000	0.52242	0.902000	0.53008	0.813000	0.27225	2.248000	0.74166	0.491000	0.48974	CGC	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000440933.2		+	ENST00000333870.3	Missense_Mutation	SNP	17 : 7330031 - 7330031 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	260	51
HIST1H1B	3009	broad.mit.edu	37	6	27835000	27835000	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27835000C>T	ENST00000331442.3	-	1	359	c.308G>A	c.(307-309)gGt>gAt	p.G103D		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	103	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						GCCAGAAGCACCAGTGCCCTT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	133	128			NA	NA	6		NA											NA				27835000		2203	4300	6503	SO:0001583	missense			AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357	3009	3009		Histones / Replication-dependent	4719	protein-coding gene	gene with protein product		142711	H1 histone family, member 5, histone 1, H1b	H1F5	NA	9031620, 9119399, 12408966	Standard	NM_005322	NM_005322	NA	Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.308G>A	6.37:g.27835000C>T	ENSP00000330074:p.Gly103Asp	NA	Q14529|Q3MJ42	37	CCDS4635.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759127	0.89843	.	.	ENSG00000184357	ENST00000331442	T	0.74106	-0.81	5.3	5.3	0.74995	Histone H1/H5 (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.91462	0.7305	H	0.98559	4.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94386	0.7609	10	0.87932	D	0	-16.8992	18.3308	0.90268	0.0:1.0:0.0:0.0	.	103	P16401	H15_HUMAN	D	103	ENSP00000330074:G103D	ENSP00000330074:G103D	G	-	2	0	HIST1H1B	27942979	1.000000	0.71417	0.997000	0.53966	0.913000	0.54294	4.681000	0.61663	2.648000	0.89879	0.563000	0.77884	GGT	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043371.1		-	ENST00000331442.3	Missense_Mutation	SNP	6 : 27835000 - 27835000 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1280	212
ME2	4200	broad.mit.edu	37	18	48446897	48446897	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:48446897A>G	ENST00000321341.5	+	8	1078	c.806A>G	c.(805-807)tAc>tGc	p.Y269C	ME2_ENST00000382927.3_Missense_Mutation_p.Y269C	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	269					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	TTGAGAAAGTACCGAGAAAAA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	64	64			NA	NA	18		NA											NA				48446897		2203	4300	6503	SO:0001583	missense			M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	4200	4200	1.1.1.40		6984	protein-coding gene	gene with protein product		154270			NA	1993674	Standard	NM_002396	NM_002396	NA	Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.806A>G	18.37:g.48446897A>G	ENSP00000321070:p.Tyr269Cys	NA	Q9BYG1|Q9H4B2	37	CCDS11948.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.243374	0.79912	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.56941	0.43;0.43	5.75	5.75	0.90469	Malic enzyme, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.82756	0.5106	H	0.98111	4.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89158	0.3528	10	0.87932	D	0	-16.0466	15.046	0.71827	1.0:0.0:0.0:0.0	.	269;269	Q9BWL6;P23368	.;MAOM_HUMAN	C	269	ENSP00000321070:Y269C;ENSP00000372384:Y269C	ENSP00000321070:Y269C	Y	+	2	0	ME2	46700895	1.000000	0.71417	0.990000	0.47175	0.970000	0.65996	9.315000	0.96313	2.202000	0.70862	0.528000	0.53228	TAC	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255991.1		+	ENST00000321341.5	Missense_Mutation	SNP	18 : 48446897 - 48446897 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	61
NLRP11	204801	broad.mit.edu	37	19	56300721	56300721	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56300721G>T	ENST00000589093.1	-	8	2651	c.2558C>A	c.(2557-2559)gCc>gAc	p.A853D	NLRP11_ENST00000360133.3_Missense_Mutation_p.A799D|NLRP11_ENST00000589824.2_Missense_Mutation_p.A799D|NLRP11_ENST00000443188.1_Missense_Mutation_p.A853D|NLRP11_ENST00000592953.1_Missense_Mutation_p.A754D			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	853							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AATAACTATGGCAATATATTG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	133	131			NA	NA	19		NA											NA				56300721		2203	4300	6503	SO:0001583	missense			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873	204801	204801		Nucleotide-binding domain and leucine rich repeat containing	22945	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11	609664	NACHT, leucine rich repeat and PYD containing 11	NALP11	NA	12563287, 12019269	Standard	NM_145007	NM_145007	NA	Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2558C>A	19.37:g.56300721G>T	ENSP00000466285:p.Ala853Asp	NA	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	37	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151332	0.38021	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.58358	0.34;0.34	2.92	-0.783	0.10958	.	.	.	.	.	T	0.74107	0.3673	H	0.94620	3.56	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.98;0.994	T	0.60541	-0.7243	9	0.72032	D	0.01	.	4.9762	0.14142	0.1316:0.4261:0.4424:0.0	.	853;799	P59045;P59045-2	NAL11_HUMAN;.	D	853;799	ENSP00000409898:A853D;ENSP00000353251:A799D	ENSP00000353251:A799D	A	-	2	0	NLRP11	60992533	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.853000	0.27777	-0.047000	0.13423	0.591000	0.81541	GCC	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453657.1		-	ENST00000589093.1	Missense_Mutation	SNP	19 : 56300721 - 56300721 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	776	132
DOCK10	55619	broad.mit.edu	37	2	225639794	225639794	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:225639794G>A	ENST00000409592.3	-	52	5936	c.5823C>T	c.(5821-5823)atC>atT	p.I1941I	DOCK10_ENST00000258390.7_Silent_p.I1947I			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1947	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGGTCACCTGGATGTAGGCAT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	85	85			NA	NA	2		NA											NA				225639794		1975	4172	6147	SO:0001819	synonymous_variant			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905	55619	55619		Pleckstrin homology (PH) domain containing	23479	protein-coding gene	gene with protein product	zizimin3	611518			NA	12432077	Standard		NM_014689	NA	Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000409592.3:c.5823C>T	2.37:g.225639794G>A		NA	O75178|Q9NW06|Q9NXI8	37		.	.	.	.	.	.	.	.	.	.	G	10.18	1.278103	0.23307	.	.	ENSG00000135905	ENST00000535663	.	.	.	5.48	4.59	0.56863	.	.	.	.	.	T	0.63129	0.2485	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61628	-0.7024	4	.	.	.	.	11.8314	0.52297	0.148:0.0:0.852:0.0	.	.	.	.	S	97	.	.	P	-	1	0	DOCK10	225348038	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.350000	0.52224	1.413000	0.46997	0.563000	0.77884	CCA	DOCK10-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000331158.2		-	ENST00000409592.3	Silent	SNP	2 : 225639794 - 225639794 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	229	52
PTCH1	5727	broad.mit.edu	37	9	98239123	98239123	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:98239123G>T	ENST00000430669.2	-	11	1907	c.1322C>A	c.(1321-1323)gCt>gAt	p.A441D	PTCH1_ENST00000421141.1_Missense_Mutation_p.A356D|PTCH1_ENST00000437951.1_Missense_Mutation_p.A441D|PTCH1_ENST00000331920.6_Missense_Mutation_p.A507D|PTCH1_ENST00000375274.2_Missense_Mutation_p.A506D|PTCH1_ENST00000418258.1_Missense_Mutation_p.A356D|PTCH1_ENST00000429896.2_Missense_Mutation_p.A356D			Q13635	PTC1_HUMAN	patched 1	507	SSD.				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AACACCAAGAGCGAGAAATGG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	111	121			NA	NA	9		NA											NA				98239123		2203	4300	6503	SO:0001583	missense			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920	5727	5727			9585	protein-coding gene	gene with protein product		601309	patched (Drosophila) homolog, patched homolog (Drosophila), patched homolog 1 (Drosophila)	NBCCS, PTCH	NA	8658145	Standard	NM_000264	NM_001083603	NA	Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000430669.2:c.1322C>A	9.37:g.98239123G>T	ENSP00000410287:p.Ala441Asp	NA	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	37	CCDS47996.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122708	0.77436	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000375271	D;D;D;D;D;D;D;D	0.95980	-3.87;-3.87;-3.87;-3.87;-3.87;-3.87;-3.87;-3.87	5.54	4.64	0.57946	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.97820	0.9284	M	0.84948	2.725	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.996;0.999;0.998	D	0.98834	1.0752	10	0.87932	D	0	-17.953	16.6136	0.84901	0.0:0.13:0.87:0.0	.	356;441;506;507	Q13635-4;Q13635-3;Q13635-2;Q13635	.;.;.;PTC1_HUMAN	D	507;441;356;356;441;356;506;172	ENSP00000332353:A507D;ENSP00000389744:A441D;ENSP00000399981:A356D;ENSP00000396135:A356D;ENSP00000410287:A441D;ENSP00000414823:A356D;ENSP00000364423:A506D;ENSP00000364420:A172D	ENSP00000332353:A507D	A	-	2	0	PTCH1	97278944	1.000000	0.71417	0.946000	0.38457	0.550000	0.35303	9.263000	0.95617	1.562000	0.49601	0.655000	0.94253	GCT	PTCH1-003	KNOWN	not_organism_supported|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053231.2		-	ENST00000430669.2	Missense_Mutation	SNP	9 : 98239123 - 98239123 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	164	22
DOPEY1	23033	broad.mit.edu	37	6	83848714	83848714	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83848714C>T	ENST00000349129.2	+	21	5213	c.4953C>T	c.(4951-4953)caC>caT	p.H1651H	DOPEY1_ENST00000369739.3_Silent_p.H1642H|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Silent_p.H1632H	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1651					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TGCATCAGCACTGTGCATGTA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	114	122			NA	NA	6		NA											NA				83848714		2203	4300	6503	SO:0001819	synonymous_variant			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097	23033	23033			21194	protein-coding gene	gene with protein product			KIAA1117	KIAA1117	NA	16301316, 16303751, 10931277	Standard	NM_015018	NM_015018	NA	Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.4953C>T	6.37:g.83848714C>T		NA	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	37	CCDS4996.1																																																																																			DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043785.2		+	ENST00000349129.2	Silent	SNP	6 : 83848714 - 83848714 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	420	103
ATF6	22926	broad.mit.edu	37	1	161821543	161821543	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161821543C>T	ENST00000367942.3	+	11	1418	c.1351C>T	c.(1351-1353)Ctg>Ttg	p.L451L	ATF6_ENST00000476437.1_3'UTR	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	451					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			TGACAAAGCCCTGATGGTGCT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													215	195	202			NA	NA	1		NA											NA				161821543		2203	4300	6503	SO:0001819	synonymous_variant			AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217	22926	22926		basic leucine zipper proteins	791	protein-coding gene	gene with protein product	activating transcription factor 6 alpha	605537			NA	9837962, 9271374, 11256944	Standard	NM_007348	NM_007348	NA	Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.1351C>T	1.37:g.161821543C>T		NA	O15139|Q5VW62|Q6IPB5|Q9UEC9	37	CCDS1235.1																																																																																			ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060304.2		+	ENST00000367942.3	Silent	SNP	1 : 161821543 - 161821543 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1029	159
EIF4ENIF1	56478	broad.mit.edu	37	22	31835923	31835923	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31835923G>A	ENST00000344710.5	-	17	2536	c.2379C>T	c.(2377-2379)ccC>ccT	p.P793P	EIF4ENIF1_ENST00000330125.5_Silent_p.P967P|EIF4ENIF1_ENST00000397525.1_Silent_p.P967P|EIF4ENIF1_ENST00000397523.1_Silent_p.P943P|EIF4ENIF1_ENST00000382180.2_Silent_p.P622P	NM_001164502.1	NP_001157974.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	967						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGAGGGCAGGGGTTGCTGTA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	83	89			NA	NA	22		NA											NA				31835923		2203	4300	6503	SO:0001819	synonymous_variant			AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708	56478	56478			16687	protein-coding gene	gene with protein product		607445			NA	10856257	Standard	NM_019843	NM_019843	NA	Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000344710.5:c.2379C>T	22.37:g.31835923G>A		NA	B1AKL2|B2RBF1|Q8NCF2|Q9H708	37	CCDS54520.1																																																																																			EIF4ENIF1-001	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000127925.1		-	ENST00000344710.5	Silent	SNP	22 : 31835923 - 31835923 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	398	66
NUDT9	53343	broad.mit.edu	37	4	88359522	88359522	+	Silent	SNP	G	G	A	rs115855591	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88359522G>A	ENST00000473942.1	+	3	413	c.291G>A	c.(289-291)ccG>ccA	p.P97P	NUDT9_ENST00000302174.4_Silent_p.P147P	NM_198038.2	NP_932155.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	147						mitochondrion	ADP-ribose diphosphatase activity			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		ATGGAAGACCGAGGTAGGTAC	0.373		NA											G	1	5e-04	NA	NA	2184	NA	0.9999	,	,	NA	2e-04	0.0013	NA	NA	5e-04	0.9049	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0													98	94	95			NA	NA	4		NA											NA				88359522		2203	4300	6503	SO:0001819	synonymous_variant			AY026252	CCDS3620.1, CCDS3621.1	4q22.1	2008-08-29			ENSG00000170502	ENSG00000170502	53343	53343		Nudix motif containing	8056	protein-coding gene	gene with protein product		606022			NA	11385575, 12427752	Standard		NM_024047	NA	Approved	MGC3037	uc003hqq.3	Q9BW91	OTTHUMG00000130591	ENST00000473942.1:c.291G>A	4.37:g.88359522G>A		NA	Q8NBN1|Q8NCB9|Q8NG25	37	CCDS3621.1																																																																																			NUDT9-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253036.3		+	ENST00000473942.1	Silent	SNP	4 : 88359522 - 88359522 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	72
VPS13D	55187	broad.mit.edu	37	1	12368655	12368655	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12368655G>A	ENST00000358136.3	+	27	6737	c.6607G>A	c.(6607-6609)Gag>Aag	p.E2203K	VPS13D_ENST00000356315.4_Missense_Mutation_p.E2203K	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2203					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCTCTTAACCGAGCCTTGTAG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	141	142			NA	NA	1		NA											NA				12368655		2203	4300	6503	SO:0001583	missense			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707	55187	55187			23595	protein-coding gene	gene with protein product		608877	vacuolar protein sorting 13D (yeast)		NA		Standard	NM_015378	NM_015378	NA	Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.6607G>A	1.37:g.12368655G>A	ENSP00000350854:p.Glu2203Lys	NA	Q58F10|Q6MZK9|Q6ZV12|Q709C4|Q709C5|Q86UB4|Q9NSJ3|Q9UIM0	37	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	35	5.566759	0.96540	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.47177	0.85;0.85	5.61	5.61	0.85477	.	0.052127	0.85682	D	0.000000	T	0.64271	0.2583	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.68765	0.96;0.913	T	0.56962	-0.7892	10	0.27082	T	0.32	.	19.6382	0.95746	0.0:0.0:1.0:0.0	.	2203;2203	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	K	2203	ENSP00000348666:E2203K;ENSP00000350854:E2203K	ENSP00000348666:E2203K	E	+	1	0	VPS13D	12291242	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.294000	0.78760	2.636000	0.89361	0.650000	0.86243	GAG	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000036897.2		+	ENST00000358136.3	Missense_Mutation	SNP	1 : 12368655 - 12368655 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	704	71
PCDH1	5097	broad.mit.edu	37	5	141248692	141248692	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141248692G>A	ENST00000287008.3	-	2	492	c.345C>T	c.(343-345)atC>atT	p.I115I	PCDH1_ENST00000536585.1_Silent_p.I93I|PCDH1_ENST00000456271.1_Silent_p.I115I|PCDH1_ENST00000503492.1_Silent_p.I115I|PCDH1_ENST00000394536.3_Silent_p.I115I	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	115	Cadherin 1.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CCTCACGGTCGATGGAGGTCT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(132;1609 1739 4190 14731 45037)							NA				0													79	76	77			NA	NA	5		NA											NA				141248692		2203	4300	6503	SO:0001819	synonymous_variant			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453	5097	5097		Cadherins / Protocadherins : Non-clustered	8655	protein-coding gene	gene with protein product		603626	protocadherin 1 (cadherin-like 1)		NA	8508762	Standard	NM_032420	NM_032420	NA	Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000287008.3:c.345C>T	5.37:g.141248692G>A		NA	Q8IUP2	37	CCDS4267.1																																																																																			PCDH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320587.2		-	ENST00000287008.3	Silent	SNP	5 : 141248692 - 141248692 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	45
RB1CC1	9821	broad.mit.edu	37	8	53596231	53596231	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:53596231G>A	ENST00000025008.5	-	5	770	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.R83C|RB1CC1_ENST00000435644.2_Missense_Mutation_p.R83C	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	83					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GCAGGTGGACGATCACATAAG	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(180;1701 2102 13475 42023 52570)							NA				0													45	46	46			NA	NA	8		NA											NA				53596231		2203	4299	6502	SO:0001583	missense			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287	9821	9821			15574	protein-coding gene	gene with protein product	200 kDa FAK family kinase-interacting protein, phosphatase 1, regulatory subunit 131	606837			NA	11850849, 7724523, 18443221	Standard	NM_014781	NM_014781	NA	Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.247C>T	8.37:g.53596231G>A	ENSP00000025008:p.Arg83Cys	NA	Q8WVU9|Q92601	37	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	G	31	5.065391	0.93898	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297;ENST00000518710	T;T;T	0.15603	2.41;2.41;2.41	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.43478	0.1249	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.30001	-0.9993	10	0.72032	D	0.01	-5.836	19.3152	0.94208	0.0:0.0:1.0:0.0	.	83;83	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	C	83;83;83;31	ENSP00000025008:R83C;ENSP00000396067:R83C;ENSP00000445960:R83C	ENSP00000025008:R83C	R	-	1	0	RB1CC1	53758784	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	9.420000	0.97426	2.648000	0.89879	0.563000	0.77884	CGT	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378011.1		-	ENST00000025008.5	Missense_Mutation	SNP	8 : 53596231 - 53596231 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	247	41
TNNT2	7139	broad.mit.edu	37	1	201333469	201333469	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201333469C>T	ENST00000509001.1	-	10	702	c.416G>A	c.(415-417)cGc>cAc	p.R139H	TNNT2_ENST00000367320.2_Missense_Mutation_p.R109H|TNNT2_ENST00000367315.2_Missense_Mutation_p.R139H|TNNT2_ENST00000367317.4_Missense_Mutation_p.R139H|TNNT2_ENST00000458432.2_Missense_Mutation_p.R151H|TNNT2_ENST00000236918.7_Missense_Mutation_p.R144H|TNNT2_ENST00000360372.4_Missense_Mutation_p.R134H|TNNT2_ENST00000367322.1_Missense_Mutation_p.R139H|TNNT2_ENST00000421663.2_Missense_Mutation_p.R141H|TNNT2_ENST00000367318.5_Missense_Mutation_p.R139H	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	149			R -> K.		ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						ATTCCGGATGCGCTGCTGCTC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	40	42			NA	NA	1		NA											NA				201333469		2203	4300	6503	SO:0001583	missense			X74819	CCDS30968.1, CCDS30969.1, CCDS60390.1, CCDS73002.1, CCDS73003.1	1q32	2014-09-17	2005-09-12		ENSG00000118194	ENSG00000118194	7139	7139			11949	protein-coding gene	gene with protein product		191045	troponin T2, cardiac, cardiomyopathy, hypertrophic 2, cardiomyopathy, dilated 1D (autosomal dominant)	CMH2, CMD1D	NA	8088824, 8205619, 9482583	Standard	NM_000364	NM_001001430	NA	Approved	CMPD2	uc001gwf.4	P45379	OTTHUMG00000035733	ENST00000509001.1:c.416G>A	1.37:g.201333469C>T	ENSP00000422031:p.Arg139His	NA	A2TDB9|A8K3K6|O60214|Q99596|Q99597|Q9UM96	37	CCDS30969.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318568	0.81469	.	.	ENSG00000118194	ENST00000367322;ENST00000367318;ENST00000458432;ENST00000421663;ENST00000236918;ENST00000367317;ENST00000367315;ENST00000360372;ENST00000357848;ENST00000367319;ENST00000367320;ENST00000509001;ENST00000438742;ENST00000455702	D;D;D;D;D;D;D;D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14	4.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	D	0.96697	0.8922	M	0.90977	3.165	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.83275	0.986;0.992;0.992;0.996;0.993;0.992	D	0.97750	1.0214	10	0.87932	D	0	-11.211	15.2601	0.73615	0.0:1.0:0.0:0.0	.	134;151;148;149;139;149	E7EPW4;F8WAF6;P45379-3;P45379;Q9BUF6;P45379-10	.;.;.;TNNT2_HUMAN;.;.	H	139;139;151;141;144;139;139;134;135;80;109;139;134;149	ENSP00000356291:R139H;ENSP00000356287:R139H;ENSP00000387874:R151H;ENSP00000404134:R141H;ENSP00000236918:R144H;ENSP00000356286:R139H;ENSP00000356284:R139H;ENSP00000353535:R134H;ENSP00000356289:R109H;ENSP00000422031:R139H;ENSP00000414036:R134H;ENSP00000402238:R149H	ENSP00000236918:R144H	R	-	2	0	TNNT2	199600092	1.000000	0.71417	0.999000	0.59377	0.758000	0.43043	5.834000	0.69361	1.926000	0.55796	0.491000	0.48974	CGC	TNNT2-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360358.1		-	ENST00000509001.1	Missense_Mutation	SNP	1 : 201333469 - 201333469 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	180	26
DSP	1832	broad.mit.edu	37	6	7585624	7585624	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7585624C>T	ENST00000379802.3	+	24	8470	c.8129C>T	c.(8128-8130)gCa>gTa	p.A2710V	DSP_ENST00000418664.2_Missense_Mutation_p.A2111V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2710	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATGTCAGCAGCAGAGGCAGTG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	136	135			NA	NA	6		NA											NA				7585624		2203	4300	6503	SO:0001583	missense			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696	1832	1832			3052	protein-coding gene	gene with protein product		125647	desmoplakin (DPI, DPII)		NA	1889810	Standard	NM_004415	NM_004415	NA	Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.8129C>T	6.37:g.7585624C>T	ENSP00000369129:p.Ala2710Val	NA	B2RTT2|O75993|Q14189|Q9UHN4	37	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179999	0.57800	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.68479	-0.33;-0.33	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000008	T	0.73513	0.3596	M	0.62723	1.935	0.34917	D	0.748094	D;D	0.89917	1.0;0.999	D;P	0.72338	0.977;0.871	T	0.66893	-0.5808	10	0.16896	T	0.51	.	20.0281	0.97530	0.0:1.0:0.0:0.0	.	2158;2710	Q4LE79;P15924	.;DESP_HUMAN	V	2710;2111	ENSP00000369129:A2710V;ENSP00000396591:A2111V	ENSP00000369129:A2710V	A	+	2	0	DSP	7530623	1.000000	0.71417	0.908000	0.35775	0.422000	0.31414	6.055000	0.71103	2.818000	0.97014	0.655000	0.94253	GCA	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039786.2		+	ENST00000379802.3	Missense_Mutation	SNP	6 : 7585624 - 7585624 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	983	150
ATP8B1	5205	broad.mit.edu	37	18	55365052	55365052	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:55365052C>T	ENST00000283684.4	-	6	601	c.602G>A	c.(601-603)cGt>cAt	p.R201H	RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000589147.1_5'UTR|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.R201H			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	201					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TTTTTTCAGACGAATGACGTC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	69	68			NA	NA	18		NA											NA				55365052		2203	4300	6503	SO:0001583	missense			AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923	5205	5205		ATPases / P-type	3706	protein-coding gene	gene with protein product		602397	ATPase, Class I, type 8B, member 1, ATPase, class I, type 8B, member 1	FIC1, BRIC, PFIC1	NA	9500542, 7655458	Standard	NM_005603	NM_005603	NA	Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.602G>A	18.37:g.55365052C>T	ENSP00000283684:p.Arg201His	NA	Q9BTP8	37	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	C	33	5.267877	0.95399	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	D;D	0.90504	-2.68;-2.68	6.04	6.04	0.98038	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.95111	0.8416	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94613	0.7806	10	0.66056	D	0.02	.	20.1899	0.98228	0.0:1.0:0.0:0.0	.	201	O43520	AT8B1_HUMAN	H	201	ENSP00000283684:R201H;ENSP00000445359:R201H	ENSP00000283684:R201H	R	-	2	0	ATP8B1	53516050	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	4.979000	0.63806	2.873000	0.98535	0.563000	0.77884	CGT	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256097.1		-	ENST00000283684.4	Missense_Mutation	SNP	18 : 55365052 - 55365052 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	235	50
SPHKAP	80309	broad.mit.edu	37	2	228884503	228884503	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228884503G>A	ENST00000392056.3	-	7	1113	c.1067C>T	c.(1066-1068)gCa>gTa	p.A356V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A356V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	356						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CACAGCACATGCAGAAGGTAC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	133	137			NA	NA	2		NA											NA				228884503		2203	4300	6503	SO:0001583	missense				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820	80309	80309		A-kinase anchor proteins	30619	protein-coding gene	gene with protein product	sphingosine kinase type 1-interacting protein	611646			NA	12080051, 11214970	Standard	NM_030623	NM_030623	NA	Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1067C>T	2.37:g.228884503G>A	ENSP00000375909:p.Ala356Val	NA	Q68DA3|Q68DR8|Q9C0I5	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	0.253	-1.005323	0.02112	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.10960	2.82;2.82	5.79	2.54	0.30619	.	0.779787	0.12023	N	0.506731	T	0.05410	0.0143	N	0.16066	0.365	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.13407	0.002;0.009	T	0.44922	-0.9296	10	0.15066	T	0.55	.	4.9752	0.14136	0.3529:0.1553:0.4918:0.0	.	356;356	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	V	356	ENSP00000375909:A356V;ENSP00000339886:A356V	ENSP00000339886:A356V	A	-	2	0	SPHKAP	228592747	0.000000	0.05858	0.001000	0.08648	0.048000	0.14542	0.351000	0.20096	0.755000	0.32990	0.655000	0.94253	GCA	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331750.1		-	ENST00000392056.3	Missense_Mutation	SNP	2 : 228884503 - 228884503 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	851	243
CCNF	899	broad.mit.edu	37	16	2499376	2499376	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2499376T>C	ENST00000397066.4	+	12	1400	c.1312T>C	c.(1312-1314)Tcc>Ccc	p.S438P		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	438					cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				CTGCGAGCTCTCCCTGCTGCA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	45	45			NA	NA	16		NA											NA				2499376		2198	4300	6498	SO:0001583	missense			Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063	899	899		F-boxes /  other	1591	protein-coding gene	gene with protein product		600227			NA	7896286	Standard	NM_001761	NM_001761	NA	Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1312T>C	16.37:g.2499376T>C	ENSP00000380256:p.Ser438Pro	NA	B2R8H3|Q96EG9	37	CCDS10467.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.435819	0.83885	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.27720	1.65	5.43	4.31	0.51392	Cyclin, C-terminal (1);Cyclin-like (3);	0.050440	0.85682	D	0.000000	T	0.57344	0.2047	M	0.89715	3.055	0.52501	D	0.999954	P	0.50066	0.931	P	0.61003	0.882	T	0.62978	-0.6739	10	0.87932	D	0	-28.9433	10.3694	0.44044	0.1518:0.0:0.0:0.8482	.	438	P41002	CCNF_HUMAN	P	438;353	ENSP00000380256:S438P	ENSP00000293968:S353P	S	+	1	0	CCNF	2439377	1.000000	0.71417	0.957000	0.39632	0.987000	0.75469	4.524000	0.60552	0.853000	0.35312	0.460000	0.39030	TCC	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250801.1		+	ENST00000397066.4	Missense_Mutation	SNP	16 : 2499376 - 2499376 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	343	79
LGALS9B	284194	broad.mit.edu	37	17	20354929	20354929	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:20354929G>T	ENST00000423676.3	-	10	852	c.789C>A	c.(787-789)agC>agA	p.S263R	LGALS9B_ENST00000324290.5_Missense_Mutation_p.S262R			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	263	Galectin 2.						sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						AGGCGATGTGGCTCCCAGAGC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	66	67			NA	NA	17		NA											NA				20354929		2202	4299	6501	SO:0001583	missense				CCDS42283.1	17p11.2	2011-08-04			ENSG00000170298	ENSG00000170298	284194	284194		Lectins, galactoside-binding	24842	protein-coding gene	gene with protein product					NA	11997339	Standard	NM_001042685	NM_001042685	NA	Approved		uc002gwz.1	Q3B8N2	OTTHUMG00000130730	ENST00000423676.3:c.789C>A	17.37:g.20354929G>T	ENSP00000388841:p.Ser263Arg	NA	A6NLF8|A8K2J8	37		.	.	.	.	.	.	.	.	.	.	G	9.204	1.029124	0.19512	.	.	ENSG00000170298	ENST00000423676;ENST00000324290	.	.	.	1.97	0.871	0.19107	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.866267	0.10476	N	0.670136	T	0.46073	0.1374	M	0.72353	2.195	0.27223	N	0.959618	B;B	0.27853	0.122;0.191	B;B	0.34452	0.183;0.098	T	0.50145	-0.8862	9	0.56958	D	0.05	.	4.1324	0.10156	0.6148:0.0:0.3852:0.0	.	263;262	Q3B8N2;Q3B8N2-2	LEG9B_HUMAN;.	R	262;263	.	ENSP00000315564:S263R	S	-	3	2	LGALS9B	20295521	0.000000	0.05858	0.993000	0.49108	0.611000	0.37282	-0.391000	0.07323	0.239000	0.21243	0.194000	0.17425	AGC	LGALS9B-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000253230.2		-	ENST00000423676.3	Missense_Mutation	SNP	17 : 20354929 - 20354929 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	650	106
TRPC6	7225	broad.mit.edu	37	11	101342042	101342042	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:101342042G>A	ENST00000532133.1	-	8	2049	c.2047C>T	c.(2047-2049)Cct>Tct	p.P683S	TRPC6_ENST00000360497.4_Missense_Mutation_p.P706S|TRPC6_ENST00000344327.3_Missense_Mutation_p.P761S|TRPC6_ENST00000348423.4_Missense_Mutation_p.P645S			Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	761					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AAGGGTACAGGAAGTGTTCTG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(166;1315 1927 11094 12848 34731)							NA				0													79	85	83			NA	NA	11		NA											NA				101342042		2203	4298	6501	SO:0001583	missense			AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672	7225	7225		Voltage-gated ion channels / Transient receptor potential cation channels	12338	protein-coding gene	gene with protein product		603652	focal segmental glomerulosclerosis 2	FSGS2	NA	9925922, 16382100, 15879175	Standard	NM_004621	NM_004621	NA	Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000532133.1:c.2047C>T	11.37:g.101342042G>A	ENSP00000435574:p.Pro683Ser	NA	Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	37		.	.	.	.	.	.	.	.	.	.	G	28.2	4.897437	0.91962	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.96895	0.8986	M	0.88570	2.965	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.97184	0.9853	10	0.87932	D	0	-16.1746	19.7888	0.96450	0.0:0.0:1.0:0.0	.	706;645;761	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	S	761;683;645;706	ENSP00000340913:P761S;ENSP00000435574:P683S;ENSP00000343672:P645S;ENSP00000353687:P706S	ENSP00000340913:P761S	P	-	1	0	TRPC6	100847252	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.864000	0.99589	2.662000	0.90505	0.655000	0.94253	CCT	TRPC6-004	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000394771.1		-	ENST00000532133.1	Missense_Mutation	SNP	11 : 101342042 - 101342042 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	625	100
FBXL18	80028	broad.mit.edu	37	7	5540606	5540606	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5540606C>T	ENST00000382368.3	-	3	1417	c.1294G>A	c.(1294-1296)Gcc>Acc	p.A432T	FBXL18_ENST00000453700.3_Missense_Mutation_p.A432T	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	432									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		gcgcggtcggcgcgcggcgcg	0.741		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													7	10	9			NA	NA	7		NA											NA				5540606		2069	3972	6041	SO:0001583	missense			AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034	80028	80028		F-boxes / Leucine-rich repeats	21874	protein-coding gene	gene with protein product		609084			NA		Standard	NM_024963	NM_024963	NA	Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.1294G>A	7.37:g.5540606C>T	ENSP00000371805:p.Ala432Thr	NA	Q9BR90|Q9BTC7|Q9HAK7	37	CCDS43546.1	.	.	.	.	.	.	.	.	.	.	C	0.110	-1.139483	0.01728	.	.	ENSG00000155034	ENST00000382368;ENST00000312577;ENST00000453700	T;T	0.42900	0.98;0.96	5.36	2.33	0.28932	.	0.664063	0.15998	N	0.234441	T	0.15305	0.0369	N	0.04508	-0.205	0.09310	N	1	B;B	0.20261	0.043;0.0	B;B	0.08055	0.003;0.001	T	0.19582	-1.0301	10	0.13470	T	0.59	.	3.1383	0.06447	0.1271:0.5114:0.1824:0.1791	.	432;432	F5H4Z4;Q96ME1-4	.;.	T	432	ENSP00000371805:A432T;ENSP00000444797:A432T	ENSP00000311990:A432T	A	-	1	0	FBXL18	5507132	.	.	0.030000	0.17652	0.010000	0.07245	.	.	0.631000	0.30412	0.585000	0.79938	GCC	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324093.1		-	ENST00000382368.3	Missense_Mutation	SNP	7 : 5540606 - 5540606 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	139	14
RSPH4A	345895	broad.mit.edu	37	6	116949186	116949186	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116949186G>A	ENST00000229554.5	+	3	1453	c.1316G>A	c.(1315-1317)aGa>aAa	p.R439K	RSPH4A_ENST00000368580.4_Intron|RSPH4A_ENST00000368581.4_Missense_Mutation_p.R439K	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	439					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GAACCAGGAAGACCATGGGTG	0.398		NA							Kartagener syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	77	78			NA	NA	6		NA											NA				116949186		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834	345895	345895			21558	protein-coding gene	gene with protein product		612647	radial spokehead-like 3	RSHL3	NA	19200523	Standard	NM_001010892	NM_001010892	NA	Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.1316G>A	6.37:g.116949186G>A	ENSP00000229554:p.Arg439Lys	NA	B4DSI1|Q3KP24|Q5TD95	37	CCDS34521.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575649	0.28092	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000447842	T;T	0.15952	2.38;2.38	5.74	3.85	0.44370	.	0.839247	0.11466	N	0.561204	T	0.02807	0.0084	N	0.12746	0.255	0.22511	N	0.999032	B;B	0.19445	0.02;0.036	B;B	0.25614	0.008;0.062	T	0.34004	-0.9846	10	0.05721	T	0.95	-8.6964	13.3698	0.60707	0.0:0.4343:0.5657:0.0	.	439;439	Q5TD94-3;Q5TD94	.;RSH4A_HUMAN	K	439;439;234	ENSP00000357570:R439K;ENSP00000229554:R439K	ENSP00000229554:R439K	R	+	2	0	RSPH4A	117055879	1.000000	0.71417	0.998000	0.56505	0.922000	0.55478	2.347000	0.44036	1.415000	0.47037	-0.165000	0.13383	AGA	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041960.1		+	ENST00000229554.5	Missense_Mutation	SNP	6 : 116949186 - 116949186 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	437	72
SLITRK3	22865	broad.mit.edu	37	3	164906516	164906516	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164906516G>T	ENST00000475390.1	-	2	2546	c.2103C>A	c.(2101-2103)atC>atA	p.I701I	SLITRK3_ENST00000241274.3_Silent_p.I701I			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	701						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ATTGCATTTGGATGCCAGTAA	0.577		NA								HNSCC(40;0.11)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	73	82			NA	NA	3		NA											NA				164906516		2203	4300	6503	SO:0001819	synonymous_variant			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871	22865	22865			23501	protein-coding gene	gene with protein product		609679			NA	10048485, 14557068	Standard	NM_014926	NM_014926	NA	Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2103C>A	3.37:g.164906516G>T		NA	Q1RMY6	37	CCDS3197.1																																																																																			SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350126.1		-	ENST00000475390.1	Silent	SNP	3 : 164906516 - 164906516 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	445	89
TTLL5	23093	broad.mit.edu	37	14	76231067	76231067	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76231067C>T	ENST00000557636.1	+	20	1917	c.1702C>T	c.(1702-1704)Cgt>Tgt	p.R568C	TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000298832.9_Missense_Mutation_p.R554C|TTLL5_ENST00000556893.1_Missense_Mutation_p.R105C|TTLL5_ENST00000554510.1_Missense_Mutation_p.R63C			Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	554					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		GGTGCGAAAACGTAGACGACG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	112	116			NA	NA	14		NA											NA				76231067		2203	4300	6503	SO:0001583	missense			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685	23093	23093		Tubulin tyrosine ligase-like family	19963	protein-coding gene	gene with protein product		612268	KIAA0998	KIAA0998	NA	15890843	Standard	NM_015072	NM_015072	NA	Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000557636.1:c.1702C>T	14.37:g.76231067C>T	ENSP00000450713:p.Arg568Cys	NA	B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	37		.	.	.	.	.	.	.	.	.	.	C	22.8	4.342561	0.82022	.	.	ENSG00000119685	ENST00000418433;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	T;T;T;T	0.32753	3.57;3.67;1.57;1.44	5.29	5.29	0.74685	.	1.233700	0.05476	N	0.553897	T	0.46619	0.1402	L	0.43152	1.355	0.39164	D	0.962464	D;D;D	0.76494	0.998;0.999;0.996	P;P;P	0.56916	0.736;0.809;0.72	T	0.11348	-1.0591	10	0.72032	D	0.01	.	12.7236	0.57156	0.1642:0.8358:0.0:0.0	.	568;105;554	G3V2J9;Q6EMB2-2;Q6EMB2	.;.;TTLL5_HUMAN	C	241;568;554;105;105;63	ENSP00000450713:R568C;ENSP00000298832:R554C;ENSP00000452524:R105C;ENSP00000451946:R63C	ENSP00000298832:R554C	R	+	1	0	TTLL5	75300820	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.259000	0.43259	2.465000	0.83290	0.579000	0.79373	CGT	TTLL5-016	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000414451.1		+	ENST00000557636.1	Missense_Mutation	SNP	14 : 76231067 - 76231067 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	413	75
SHISA3	152573	broad.mit.edu	37	4	42403101	42403101	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42403101C>T	ENST00000319234.4	+	2	568	c.350C>T	c.(349-351)gCt>gTt	p.A117V		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	117					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						TCTGTAGTGGCTATTTATTGT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													224	227	226			NA	NA	4		NA											NA				42403101		2203	4300	6503	SO:0001583	missense			BC012029	CCDS33979.1	4p13	2013-07-31	2013-07-31		ENSG00000178343	ENSG00000178343	152573	152573		Shisa homologs	25159	protein-coding gene	gene with protein product			shisa homolog 3 (Xenopus laevis)		NA		Standard	NM_001080505	NM_001080505	NA	Approved	hShisa3	uc003gwp.3	A0PJX4	OTTHUMG00000161043	ENST00000319234.4:c.350C>T	4.37:g.42403101C>T	ENSP00000326445:p.Ala117Val	NA	A0PJX3|Q96EQ5	37	CCDS33979.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451952	0.84209	.	.	ENSG00000178343	ENST00000319234	T	0.39997	1.05	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.65780	0.2724	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.67662	-0.5613	10	0.52906	T	0.07	-5.562	17.9622	0.89089	0.0:1.0:0.0:0.0	.	117	A0PJX4	SHSA3_HUMAN	V	117	ENSP00000326445:A117V	ENSP00000326445:A117V	A	+	2	0	SHISA3	42097858	1.000000	0.71417	0.958000	0.39756	0.399000	0.30720	7.651000	0.83577	2.582000	0.87167	0.655000	0.94253	GCT	SHISA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363539.1		+	ENST00000319234.4	Missense_Mutation	SNP	4 : 42403101 - 42403101 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1649	329
NCKAP1L	3071	broad.mit.edu	37	12	54905762	54905762	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54905762A>G	ENST00000293373.6	+	9	893	c.814A>G	c.(814-816)Aac>Gac	p.N272D	NCKAP1L_ENST00000552211.1_3'UTR|NCKAP1L_ENST00000545638.2_Missense_Mutation_p.N222D	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	272					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGGGTGCCTCAACTCCAATAG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	136	142			NA	NA	12		NA											NA				54905762		2203	4300	6503	SO:0001583	missense			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338	3071	3071			4862	protein-coding gene	gene with protein product		141180	hematopoietic protein 1	HEM1	NA	1932118	Standard	NM_005337	NM_005337	NA	Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.814A>G	12.37:g.54905762A>G	ENSP00000293373:p.Asn272Asp	NA	Q52LW0	37	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	A	16.53	3.149071	0.57151	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.30714	1.52;1.52	5.61	5.61	0.85477	.	0.048494	0.85682	N	0.000000	T	0.44850	0.1313	L	0.45581	1.43	0.42139	D	0.991505	D	0.69078	0.997	D	0.80764	0.994	T	0.26052	-1.0114	10	0.12103	T	0.63	-15.1548	13.8042	0.63220	1.0:0.0:0.0:0.0	.	272	P55160	NCKPL_HUMAN	D	272;222	ENSP00000293373:N272D;ENSP00000445596:N222D	ENSP00000293373:N272D	N	+	1	0	NCKAP1L	53192029	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.967000	0.63722	2.153000	0.67306	0.456000	0.33151	AAC	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406195.1		+	ENST00000293373.6	Missense_Mutation	SNP	12 : 54905762 - 54905762 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	511	93
PSAP	5660	broad.mit.edu	37	10	73588821	73588821	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73588821T>G	ENST00000394936.3	-	5	536	c.389A>C	c.(388-390)gAg>gCg	p.E130A	PSAP_ENST00000394934.1_Missense_Mutation_p.E130A			P07602	SAP_HUMAN	prosaposin	130	Saposin B-type 1.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						AGAGCACACCTCCCCAGGACG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	61	61			NA	NA	10		NA											NA				73588821		2203	4300	6503	SO:0001583	missense			BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746	5660	5660		Endogenous ligands	9498	protein-coding gene	gene with protein product	variant Gaucher disease and variant metachromatic leukodystrophy	176801	sphingolipid activator protein-1	SAP1, GLBA	NA	2717620	Standard	NM_002778	NM_001042465	NA	Approved		uc001jsm.3	P07602	OTTHUMG00000018429	ENST00000394936.3:c.389A>C	10.37:g.73588821T>G	ENSP00000378394:p.Glu130Ala	NA	P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	37	CCDS7311.1	.	.	.	.	.	.	.	.	.	.	T	15.02	2.710205	0.48517	.	.	ENSG00000197746	ENST00000394936;ENST00000373120;ENST00000357471;ENST00000394934;ENST00000404083;ENST00000394940	T;T	0.74106	-0.81;-0.81	5.0	3.83	0.44106	Saposin-like (2);Saposin-like type B, 2 (1);Saposin B (2);	0.051555	0.85682	D	0.000000	T	0.63721	0.2535	L	0.43152	1.355	0.35697	D	0.815282	P	0.46064	0.872	P	0.45167	0.472	T	0.63681	-0.6582	10	0.13470	T	0.59	-23.1839	5.6585	0.17656	0.2929:0.0:0.1327:0.5744	.	130	P07602	SAP_HUMAN	A	130;130;130;130;133;55	ENSP00000378394:E130A;ENSP00000378392:E130A	ENSP00000350063:E130A	E	-	2	0	PSAP	73258827	1.000000	0.71417	0.991000	0.47740	0.814000	0.46013	5.356000	0.66052	0.828000	0.34709	0.260000	0.18958	GAG	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048553.1		-	ENST00000394936.3	Missense_Mutation	SNP	10 : 73588821 - 73588821 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	385	53
TNS3	64759	broad.mit.edu	37	7	47317697	47317697	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47317697T>C	ENST00000398879.1	-	31	4681	c.4315A>G	c.(4315-4317)Att>Gtt	p.I1439V	TNS3_ENST00000311160.9_Missense_Mutation_p.I1439V|TNS3_ENST00000355730.3_Missense_Mutation_p.I1199V			Q68CZ2	TENS3_HUMAN	tensin 3	1439						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GGGGAACCAATCATGACCTTT	0.592		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	7		NA											NA				47317697		2107	4251	6358	SO:0001583	missense			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205	64759	64759		SH2 domain containing	21616	protein-coding gene	gene with protein product	tumor endothelial marker 6	606825	tensin-like SH2 domain-containing 1	TENS1	NA	11559528	Standard	NM_022748	NM_022748	NA	Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.4315A>G	7.37:g.47317697T>C	ENSP00000381854:p.Ile1439Val	NA	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	37	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	T	20.4	3.982934	0.74474	.	.	ENSG00000136205	ENST00000311160;ENST00000398879;ENST00000355730	T;T;T	0.42131	0.98;0.98;0.98	5.18	5.18	0.71444	Phosphotyrosine interaction domain (1);Tensin phosphotyrosine-binding domain (1);	0.280669	0.35936	N	0.002894	T	0.63558	0.2521	M	0.75447	2.3	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.66999	-0.5781	10	0.59425	D	0.04	-31.1124	12.9921	0.58625	0.0:0.0:0.0:1.0	.	1439	Q68CZ2	TENS3_HUMAN	V	1439;1439;1199	ENSP00000312143:I1439V;ENSP00000381854:I1439V;ENSP00000347968:I1199V	ENSP00000312143:I1439V	I	-	1	0	TNS3	47284222	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.844000	0.86867	1.963000	0.57068	0.528000	0.53228	ATT	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157253.1		-	ENST00000398879.1	Missense_Mutation	SNP	7 : 47317697 - 47317697 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	210	41
APOA5	116519	broad.mit.edu	37	11	116661334	116661334	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:116661334C>T	ENST00000227665.4	-	3	645	c.611G>A	c.(610-612)cGc>cAc	p.R204H	APOA5_ENST00000542499.1_Missense_Mutation_p.R204H			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	204					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CTGCACGTGGCGCCCGATGCC	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	16	15			NA	NA	11		NA											NA				116661334		2176	4251	6427	SO:0001583	missense			AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243	NA	116519		Apolipoproteins	17288	protein-coding gene	gene with protein product		606368			NA	11588264, 11577099	Standard		NM_001166598	NA	Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.611G>A	11.37:g.116661334C>T	ENSP00000227665:p.Arg204His	NA	B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	37	CCDS8376.2	.	.	.	.	.	.	.	.	.	.	C	5.983	0.365282	0.11352	.	.	ENSG00000110243	ENST00000227665;ENST00000542499	T;T	0.73681	-0.77;-0.77	4.84	-7.05	0.01573	Apolipoprotein/apolipophorin (1);	1.167800	0.06305	N	0.701598	T	0.54870	0.1885	N	0.11064	0.09	0.22851	N	0.998653	B;B	0.14805	0.011;0.004	B;B	0.12837	0.008;0.008	T	0.39761	-0.9598	10	0.29301	T	0.29	-6.7753	16.6351	0.85050	0.0:0.7996:0.0:0.2004	.	201;204	B0YIW1;Q6Q788	.;APOA5_HUMAN	H	204	ENSP00000227665:R204H;ENSP00000445002:R204H	ENSP00000227665:R204H	R	-	2	0	APOA5	116166544	0.163000	0.22920	0.823000	0.32752	0.894000	0.52154	-0.967000	0.03821	-1.392000	0.02082	-0.157000	0.13467	CGC	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000106285.2		-	ENST00000227665.4	Missense_Mutation	SNP	11 : 116661334 - 116661334 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	221	47
ADAMTS12	81792	broad.mit.edu	37	5	33527365	33527365	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33527365A>G	ENST00000504830.1	-	24	5048	c.4713T>C	c.(4711-4713)tgT>tgC	p.C1571C	ADAMTS12_ENST00000352040.3_Silent_p.C1486C	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1571	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GTGTCTGGGGACACGAGAAGC	0.502		NA								HNSCC(64;0.19)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													261	233	242			NA	NA	5		NA											NA				33527365		2203	4300	6503	SO:0001819	synonymous_variant			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388	81792	81792		ADAM metallopeptidases with thrombospondin type 1 motif	14605	protein-coding gene	gene with protein product		606184	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12		NA	11279086	Standard	NM_030955	NM_030955	NA	Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4713T>C	5.37:g.33527365A>G		NA	A2RRN9|A5D6V6|Q6UWL3	37	CCDS34140.1																																																																																			ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367164.2		-	ENST00000504830.1	Silent	SNP	5 : 33527365 - 33527365 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1027	98
LRP1B	53353	broad.mit.edu	37	2	141242946	141242946	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141242946A>T	ENST00000389484.3	-	59	10362	c.9391T>A	c.(9391-9393)Ttt>Att	p.F3131I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3131					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTCTGGGAAACTTCAGCCTT	0.348		NA								TSP Lung(27;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(99;50 2074 2507 20106)							NA				0													125	120	122			NA	NA	2		NA											NA				141242946		2203	4300	6503	SO:0001583	missense			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702	53353	53353		Low density lipoprotein receptors	6693	protein-coding gene	gene with protein product	LRP-deleted in tumors	608766			NA	10766186	Standard	NM_018557	NM_018557	NA	Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9391T>A	2.37:g.141242946A>T	ENSP00000374135:p.Phe3131Ile	NA	Q8WY29|Q8WY30|Q8WY31	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	17.38	3.374570	0.61735	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.93488	-3.23	5.44	5.44	0.79542	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.139448	0.47852	D	0.000201	D	0.84750	0.5541	N	0.11427	0.14	0.30025	N	0.813992	P	0.42827	0.791	B	0.37650	0.255	D	0.83385	0.0014	10	0.40728	T	0.16	.	11.7383	0.51778	0.8528:0.1472:0.0:0.0	.	3131	Q9NZR2	LRP1B_HUMAN	I	3131;3069	ENSP00000374135:F3131I	ENSP00000374135:F3131I	F	-	1	0	LRP1B	140959416	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.153000	0.64888	2.178000	0.69098	0.533000	0.62120	TTT	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254736.2		-	ENST00000389484.3	Missense_Mutation	SNP	2 : 141242946 - 141242946 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	96
FREM2	341640	broad.mit.edu	37	13	39264502	39264502	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39264502G>A	ENST00000280481.7	+	1	3237	c.3021G>A	c.(3019-3021)agG>agA	p.R1007R		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1007					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTACTCAAAGGGACATCTTGG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	143	142			NA	NA	13		NA											NA				39264502		2203	4300	6503	SO:0001819	synonymous_variant			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893	341640	341640			25396	protein-coding gene	gene with protein product		608945			NA	15345741	Standard	NM_207361	NM_207361	NA	Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.3021G>A	13.37:g.39264502G>A		NA	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	37	CCDS31960.1																																																																																			FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044599.2		+	ENST00000280481.7	Silent	SNP	13 : 39264502 - 39264502 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	692	94
CLTB	1212	broad.mit.edu	37	5	175843361	175843361	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175843361C>T	ENST00000310418.4	-	1	209	c.4G>A	c.(4-6)Gct>Act	p.A2T	CLTB_ENST00000345807.2_Missense_Mutation_p.A2T	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	clathrin, light chain B	2					intracellular protein transport|vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle	protein binding|structural molecule activity			lung(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		AAGTCATCAGCCATTTTCCCC	0.746		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	19	17			NA	NA	5		NA											NA				175843361		2076	4132	6208	SO:0001583	missense			M20470	CCDS4402.1, CCDS4403.1	5q35.2	2010-05-11	2010-05-11		ENSG00000175416	ENSG00000175416	1212	1212			2091	protein-coding gene	gene with protein product		118970	clathrin, light polypeptide (Lcb)		NA	7713494	Standard		NM_007097	NA	Approved	Lcb	uc003meh.4	P09497	OTTHUMG00000130662	ENST00000310418.4:c.4G>A	5.37:g.175843361C>T	ENSP00000309415:p.Ala2Thr	NA	Q53Y37|Q6FHW1	37	CCDS4403.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.888267	0.52014	.	.	ENSG00000175416	ENST00000310418;ENST00000345807;ENST00000502877	.	.	.	4.1	2.27	0.28462	.	0.079352	0.48767	D	0.000176	T	0.49847	0.1581	L	0.51422	1.61	0.38125	D	0.93797	B;B	0.23442	0.069;0.085	B;B	0.28011	0.051;0.085	T	0.51325	-0.8720	9	0.87932	D	0	.	8.5743	0.33590	0.3101:0.54:0.15:0.0	.	2;2	P09497-2;P09497	.;CLCB_HUMAN	T	2	.	ENSP00000309415:A2T	A	-	1	0	CLTB	175775967	1.000000	0.71417	0.863000	0.33907	0.426000	0.31534	2.189000	0.42621	0.363000	0.24346	0.462000	0.41574	GCT	CLTB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253153.1		-	ENST00000310418.4	Missense_Mutation	SNP	5 : 175843361 - 175843361 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	75
SYT10	341359	broad.mit.edu	37	12	33579114	33579114	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:33579114T>C	ENST00000228567.3	-	2	764	c.468A>G	c.(466-468)gcA>gcG	p.A156A	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	156						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTTGCACACGTGCATGTTTAA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													189	196	193			NA	NA	12		NA											NA				33579114		2203	4300	6503	SO:0001819	synonymous_variant			AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975	341359	341359		Synaptotagmins	19266	protein-coding gene	gene with protein product					NA		Standard	NM_198992	NM_198992	NA	Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.468A>G	12.37:g.33579114T>C		NA	Q495U2	37	CCDS8732.1																																																																																			SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403222.1		-	ENST00000228567.3	Silent	SNP	12 : 33579114 - 33579114 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1380	263
GPX6	257202	broad.mit.edu	37	6	28472207	28472207	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28472207G>A	ENST00000474923.1	-	4	471	c.428C>T	c.(427-429)tCc>tTc	p.S143F	GPX6_ENST00000361902.1_Silent_p.V176V			P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	0					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	GGATATCATGGACCTTCATGG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	66	66			NA	NA	6		NA											NA				28472207		1888	4128	6016	SO:0001583	missense				CCDS43432.1	6p22.1	2012-03-01			ENSG00000198704	ENSG00000198704	257202	257202	1.11.1.9		4558	protein-coding gene	gene with protein product		607913	glutathione peroxidase pseudogene 3	GPXP3	NA		Standard		NM_182701	NA	Approved		uc021yrx.1	P59796	OTTHUMG00000044828	ENST00000474923.1:c.428C>T	6.37:g.28472207G>A	ENSP00000417364:p.Ser143Phe	NA	Q4PJ17	37		.	.	.	.	.	.	.	.	.	.	G	14.30	2.494134	0.44352	.	.	ENSG00000198704	ENST00000474923	T	0.13307	2.6	4.31	1.47	0.22746	.	.	.	.	.	T	0.10337	0.0253	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.05903	-1.0857	6	0.72032	D	0.01	.	5.873	0.18814	0.1769:0.0:0.6685:0.1546	.	.	.	.	F	143	ENSP00000417364:S143F	ENSP00000417364:S143F	S	-	2	0	GPX6	28580186	0.998000	0.40836	0.996000	0.52242	0.981000	0.71138	1.669000	0.37492	0.300000	0.22699	0.591000	0.81541	TCC	GPX6-002	PUTATIVE	basic|exp_conf|seleno	protein_coding	NA	protein_coding	OTTHUMT00000356246.5		-	ENST00000474923.1	Missense_Mutation	SNP	6 : 28472207 - 28472207 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	268	10
TRIM3	10612	broad.mit.edu	37	11	6479076	6479076	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6479076G>A	ENST00000525074.1	-	4	759	c.365C>T	c.(364-366)aCg>aTg	p.T122M	TRIM3_ENST00000359518.3_Splice_Site_p.T122M|TRIM3_ENST00000345851.3_Splice_Site_p.T122M|TRIM3_ENST00000536344.1_Splice_Site_p.T3M|TRIM3_ENST00000537602.1_Splice_Site_p.T122M	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	122					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAACTCCATCGTCTGCGGTAC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(6;5 510 1540 25169 29084)							NA				0													85	76	79			NA	NA	11		NA											NA				6479076		2201	4296	6497	SO:0001630	splice_region_variant			AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171	10612	10612		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	10064	protein-coding gene	gene with protein product	ring finger protein 22, brain expressed ring finger, tripartite motif protein TRIM3	605493	tripartite motif-containing 3	RNF22	NA	10391919	Standard	NM_006458	NM_006458	NA	Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.364-1C>T	11.37:g.6479076G>A		NA	Q4V9L4|Q9C038|Q9C039	37	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119405	0.37436	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344;ENST00000528227	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	5.06	5.06	0.68205	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, B-box (3);	0.225856	0.46145	D	0.000306	T	0.36468	0.0968	N	0.11927	0.2	0.39543	D	0.968854	D;D;B	0.63046	0.992;0.984;0.367	P;P;B	0.57283	0.599;0.817;0.264	T	0.28839	-1.0031	10	0.46703	T	0.11	-3.5121	7.8979	0.29717	0.1767:0.0:0.8233:0.0	.	3;3;122	F5H2Q8;D3DQT4;O75382	.;.;TRIM3_HUMAN	M	122;122;122;122;122;122;122;3;122	ENSP00000433102:T122M;ENSP00000340797:T122M;ENSP00000441091:T122M;ENSP00000352508:T122M;ENSP00000445460:T3M;ENSP00000433070:T122M	ENSP00000337094:T122M	T	-	2	0	TRIM3	6435652	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	5.699000	0.68310	2.345000	0.79718	0.462000	0.41574	ACG	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384224.2	Missense_Mutation	-	ENST00000525074.1	Splice_Site	SNP	11 : 6479076 - 6479076 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	598	103
LRRK2	120892	broad.mit.edu	37	12	40745515	40745515	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40745515A>G	ENST00000298910.7	+	44	6614	c.6556A>G	c.(6556-6558)Act>Gct	p.T2186A		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2186					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TGACTTAAATACTGAAGGATA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	75	74			NA	NA	12		NA											NA				40745515		2203	4300	6503	SO:0001583	missense			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906	120892	120892		Parkinson disease	18618	protein-coding gene	gene with protein product		609007	Parkinson disease (autosomal dominant) 8	PARK8	NA	15541308	Standard	XM_058513	NM_198578	NA	Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.6556A>G	12.37:g.40745515A>G	ENSP00000298910:p.Thr2186Ala	NA	A6NJU2|Q6ZS50|Q8NCX9	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.409497	0.42715	.	.	ENSG00000188906	ENST00000298910	T	0.72167	-0.63	6.06	3.62	0.41486	WD40 repeat-like-containing domain (1);	0.488214	0.24544	N	0.037605	T	0.61060	0.2317	L	0.55481	1.735	0.30425	N	0.777732	B;B	0.16166	0.016;0.016	B;B	0.13407	0.009;0.009	T	0.58769	-0.7578	10	0.42905	T	0.14	.	6.0845	0.19960	0.746:0.0:0.1324:0.1216	.	2186;2186	Q17RV3;Q5S007	.;LRRK2_HUMAN	A	2186	ENSP00000298910:T2186A	ENSP00000298910:T2186A	T	+	1	0	LRRK2	39031782	1.000000	0.71417	0.856000	0.33681	0.939000	0.58152	3.658000	0.54482	1.110000	0.41699	0.533000	0.62120	ACT	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277179.1		+	ENST00000298910.7	Missense_Mutation	SNP	12 : 40745515 - 40745515 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	223	18
INSC	387755	broad.mit.edu	37	11	15134050	15134050	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:15134050G>T	ENST00000379554.3	+	1	81	c.35G>T	c.(34-36)aGc>aTc	p.S12I		NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	12					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GAGGCGGCCAGCGAAGGTCCA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	64	59			NA	NA	11		NA											NA				15134050		1987	4147	6134	SO:0001583	missense			AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487	387755	387755			33116	protein-coding gene	gene with protein product	inscuteable spindle orientation adaptor protein	610668			NA	16458856	Standard	NM_001031853	NM_001031853	NA	Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.35G>T	11.37:g.15134050G>T	ENSP00000368872:p.Ser12Ile	NA	Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	37	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	G	6.506	0.461602	0.12342	.	.	ENSG00000188487	ENST00000379554	T	0.34275	1.37	3.54	3.54	0.40534	.	.	.	.	.	T	0.23688	0.0573	N	0.08118	0	0.40179	D	0.977264	B	0.23735	0.09	B	0.34242	0.178	T	0.19451	-1.0305	9	0.72032	D	0.01	-2.209	10.9193	0.47154	0.0:0.0:1.0:0.0	.	12	Q1MX18	INSC_HUMAN	I	12	ENSP00000368872:S12I	ENSP00000368872:S12I	S	+	2	0	INSC	15090626	0.005000	0.15991	0.241000	0.24154	0.030000	0.12068	1.569000	0.36428	2.274000	0.75844	0.561000	0.74099	AGC	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386590.1		+	ENST00000379554.3	Missense_Mutation	SNP	11 : 15134050 - 15134050 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	290	39
SERPINE2	5270	broad.mit.edu	37	2	224856691	224856691	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:224856691C>A	ENST00000409840.3	-	5	1174	c.514G>T	c.(514-516)Gat>Tat	p.D172Y	SERPINE2_ENST00000447280.2_Missense_Mutation_p.D184Y|SERPINE2_ENST00000258405.4_Missense_Mutation_p.D172Y|SERPINE2_ENST00000409304.1_Missense_Mutation_p.D172Y			P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	172					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TCAATAAGATCTGGGGACAGC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	64	68			NA	NA	2		NA											NA				224856691		2203	4300	6503	SO:0001583	missense			M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919	5270	5270		Serine (or cysteine) peptidase inhibitors	8951	protein-coding gene	gene with protein product	glial-derived nexin 1	177010	serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	PI7	NA	7665170, 24172014	Standard	NM_006216	NM_006216	NA	Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000409840.3:c.514G>T	2.37:g.224856691C>A	ENSP00000386969:p.Asp172Tyr	NA	B2R6A4|Q53S15|Q5D0C4	37	CCDS46526.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.498938	0.64298	.	.	ENSG00000135919	ENST00000409304;ENST00000258405;ENST00000409840;ENST00000447280;ENST00000432738	T;T;T;T;T	0.76060	1.82;-0.99;1.82;1.82;1.82	5.8	3.03	0.35002	Serpin domain (3);	0.255713	0.44902	D	0.000417	D	0.86965	0.6060	M	0.92833	3.35	0.58432	D	0.999991	D;D	0.60160	0.987;0.987	D;P	0.66084	0.941;0.904	D	0.86978	0.2102	10	0.87932	D	0	.	10.199	0.43071	0.0:0.7855:0.0:0.2145	.	184;172	B4DIF2;P07093	.;GDN_HUMAN	Y	172;172;172;184;172	ENSP00000386412:D172Y;ENSP00000258405:D172Y;ENSP00000386969:D172Y;ENSP00000415786:D184Y;ENSP00000408452:D172Y	ENSP00000258405:D172Y	D	-	1	0	SERPINE2	224564935	0.993000	0.37304	0.012000	0.15200	0.982000	0.71751	3.012000	0.49575	0.364000	0.24374	0.650000	0.86243	GAT	SERPINE2-003	NOVEL	alternative_5_UTR|basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330900.1		-	ENST00000409840.3	Missense_Mutation	SNP	2 : 224856691 - 224856691 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	187	38
CCND3	896	broad.mit.edu	37	6	41908275	41908275	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41908275T>G	ENST00000511642.1	-	2	755	c.4A>C	c.(4-6)Aac>Cac	p.N2H	CCND3_ENST00000511686.1_Intron|CCND3_ENST00000414200.2_Intron|CCND3_ENST00000510503.1_Missense_Mutation_p.N2H|CCND3_ENST00000372988.4_Missense_Mutation_p.N2H|CCND3_ENST00000372991.4_Missense_Mutation_p.N83H|CCND3_ENST00000415497.2_Intron|CCND3_ENST00000372987.4_Missense_Mutation_p.N33H			P30281	CCND3_HUMAN	cyclin D3	83					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCCAGGTAGTTCATGGCCAGG	0.637		NA	T	IGH@	MM									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		6	6p21	896	cyclin D3		L	0													100	92	95			NA	NA	6		NA											NA				41908275		2203	4300	6503	SO:0001583	missense				CCDS4863.1, CCDS47425.1, CCDS47426.1, CCDS47427.1, CCDS75452.1	6p21	2008-08-26			ENSG00000112576	ENSG00000112576	896	896			1585	protein-coding gene	gene with protein product		123834			NA	1386335	Standard	NM_001760	NM_001136125	NA	Approved		uc003orn.3	P30281	OTTHUMG00000014690	ENST00000511642.1:c.4A>C	6.37:g.41908275T>G	ENSP00000426212:p.Asn2His	NA	B2RD63|Q5T8J0|Q6FG62|Q96F49	37	CCDS47426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	22.6|22.6	4.308671|4.308671	0.81247|0.81247	.|.	.|.	ENSG00000112576|ENSG00000112576	ENST00000372991;ENST00000511642;ENST00000372987;ENST00000372988;ENST00000510503;ENST00000505064;ENST00000502771;ENST00000514588|ENST00000512426	T;T;T;T;T;T;T;T|.	0.13307|.	2.6;2.6;2.6;2.6;2.6;2.6;2.6;2.6|.	4.39|4.39	4.39|4.39	0.52855|0.52855	Cyclin, N-terminal (2);Cyclin-like (3);|.	0.000000|.	0.56097|.	D|.	0.000024|.	T|.	0.72526|.	0.3471|.	M|M	0.86573|0.86573	2.825|2.825	0.54753|0.54753	D|D	0.999985|0.999985	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.97110|.	0.98;0.999;1.0|.	T|.	0.77338|.	-0.2625|.	10|.	0.87932|.	D|.	0|.	.|.	13.4041|13.4041	0.60900|0.60900	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	2;83;33|.	B4E0N5;P30281;Q5T8J1|.	.;CCND3_HUMAN;.|.	H|C	83;2;33;2;2;2;2;33|17	ENSP00000362082:N83H;ENSP00000426212:N2H;ENSP00000362078:N33H;ENSP00000362079:N2H;ENSP00000425986:N2H;ENSP00000425830:N2H;ENSP00000425334:N2H;ENSP00000420991:N33H|.	ENSP00000362078:N33H|.	N|X	-|-	1|3	0|0	CCND3|CCND3	42016253|42016253	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	6.010000|6.010000	0.70753|0.70753	1.839000|1.839000	0.53478|0.53478	0.459000|0.459000	0.35465|0.35465	AAC|TGA	CCND3-005	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372248.2		-	ENST00000511642.1	Missense_Mutation	SNP	6 : 41908275 - 41908275 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	563	98
ITIH6	347365	broad.mit.edu	37	X	54785257	54785257	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54785257G>A	ENST00000218436.6	-	8	1279	c.1250C>T	c.(1249-1251)gCg>gTg	p.A417V		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	417	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity				NA						GTGGCCTAGCGCCTGACGGAC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	56	62			NA	NA	X		NA											NA				54785257		2203	4300	6503	SO:0001583	missense			AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313	347365	347365			28907	protein-coding gene	gene with protein product			inter-alpha (globulin) inhibitor H5-like	ITIH5L	NA	12975309	Standard	NM_198510	NM_198510	NA	Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.1250C>T	X.37:g.54785257G>A	ENSP00000218436:p.Ala417Val	NA	A6NN03	37	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823094	0.50739	.	.	ENSG00000102313	ENST00000218436	T	0.15718	2.4	3.78	3.78	0.43462	von Willebrand factor, type A (3);	0.158431	0.41001	U	0.000970	T	0.31136	0.0787	M	0.71206	2.165	0.34382	D	0.693269	P	0.47762	0.9	P	0.51582	0.674	T	0.52902	-0.8513	10	0.59425	D	0.04	.	13.8649	0.63583	0.0:0.0:1.0:0.0	.	417	Q6UXX5	ITH5L_HUMAN	V	417	ENSP00000218436:A417V	ENSP00000218436:A417V	A	-	2	0	ITIH5L	54801982	1.000000	0.71417	0.074000	0.20217	0.004000	0.04260	4.112000	0.57845	1.465000	0.48006	0.597000	0.82753	GCG	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056814.2		-	ENST00000218436.6	Missense_Mutation	SNP	X : 54785257 - 54785257 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	183	60
SIRT1	23411	broad.mit.edu	37	10	69651188	69651188	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:69651188T>C	ENST00000212015.6	+	4	871	c.818T>C	c.(817-819)tTc>tCc	p.F273S	SIRT1_ENST00000432464.1_5'UTR|SIRT1_ENST00000497639.1_3'UTR	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN	sirtuin 1	273	Deacetylase sirtuin-type.				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						ATACCTGACTTCAGGTCAAGG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													191	182	185			NA	NA	10		NA											NA				69651188		2203	4300	6503	SO:0001583	missense			AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717	23411	23411			14929	protein-coding gene	gene with protein product		604479	sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1, sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)		NA	10381378	Standard		NM_012238	NA	Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.818T>C	10.37:g.69651188T>C	ENSP00000212015:p.Phe273Ser	NA	Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	37	CCDS7273.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.804013	0.90623	.	.	ENSG00000096717	ENST00000212015	T	0.43294	0.95	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.79678	0.4487	H	0.99555	4.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88521	0.3096	10	0.87932	D	0	-8.5998	14.4334	0.67266	0.0:0.0:0.0:1.0	.	273	Q96EB6	SIRT1_HUMAN	S	273	ENSP00000212015:F273S	ENSP00000212015:F273S	F	+	2	0	SIRT1	69321194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.493000	0.81493	2.064000	0.61679	0.455000	0.32223	TTC	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048296.1		+	ENST00000212015.6	Missense_Mutation	SNP	10 : 69651188 - 69651188 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	878	160
SCG2	7857	broad.mit.edu	37	2	224463355	224463355	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:224463355G>A	ENST00000305409.2	-	2	878	c.646C>T	c.(646-648)Cgt>Tgt	p.R216C		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	216					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		ATCCTCTCACGTTTCTGGTTG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	214	193	200		646	4.9	1	2		200	0,8600	1.2+/-3.3	0,0,4300	no	missense	SCG2	NM_003469.4	180	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging	216/618	224463355	1,13005	2203	4300	6503	SO:0001583	missense			M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951	7857	7857			10575	protein-coding gene	gene with protein product	secretoneurin, chromogranin C	118930			NA	8617499, 16101435	Standard	NM_003469	NM_003469	NA	Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.646C>T	2.37:g.224463355G>A	ENSP00000304133:p.Arg216Cys	NA	B2R662|Q53T11|Q8TBH3	37	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	G	9.837	1.190095	0.21954	2.27E-4	0.0	ENSG00000171951	ENST00000305409	T	0.02369	4.32	5.74	4.86	0.63082	.	0.176089	0.45361	D	0.000371	T	0.12902	0.0313	M	0.66939	2.045	0.51767	D	0.999934	D	0.89917	1.0	D	0.76575	0.988	T	0.00280	-1.1852	10	0.87932	D	0	.	13.072	0.59068	0.0:0.0:0.5598:0.4402	.	216	P13521	SCG2_HUMAN	C	216	ENSP00000304133:R216C	ENSP00000304133:R216C	R	-	1	0	SCG2	224171599	0.994000	0.37717	0.998000	0.56505	0.105000	0.19272	2.047000	0.41269	1.406000	0.46857	0.650000	0.86243	CGT	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256870.2		-	ENST00000305409.2	Missense_Mutation	SNP	2 : 224463355 - 224463355 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1009	165
DOCK8	81704	broad.mit.edu	37	9	421012	421012	+	Missense_Mutation	SNP	C	C	T	rs142093178		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:421012C>T	ENST00000469391.1	+	30	3866	c.3787C>T	c.(3787-3789)Cgg>Tgg	p.R1263W	DOCK8_ENST00000432829.2_Missense_Mutation_p.R1295W|DOCK8_ENST00000493666.2_3'UTR|DOCK8_ENST00000382329.1_Missense_Mutation_p.R830W|DOCK8_ENST00000453981.1_Missense_Mutation_p.R1363W	NM_001190458.1|NM_001193536.1	NP_001177387.1|NP_001180465.1	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1363					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TGTCAAGGCCCGGCTGGAAGA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	86	86	86		3787,3883,4087	-3	0.9	9	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	DOCK8	NM_001190458.1,NM_001193536.1,NM_203447.3	101,101,101	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	1263/2000,1295/2032,1363/2100	421012	1,13005	2203	4300	6503	SO:0001583	missense			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099	81704	81704			19191	protein-coding gene	gene with protein product		611432			NA	11214971	Standard	XM_036307	NM_203447	NA	Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000469391.1:c.3787C>T	9.37:g.421012C>T	ENSP00000419438:p.Arg1263Trp	NA	A2A350|A2BDF2|A4FU78|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	37	CCDS55284.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055129	0.55325	0.0	1.16E-4	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.02015	4.5;4.5;4.5;4.5	5.76	-2.97	0.05530	.	0.210418	0.47852	D	0.000205	T	0.05090	0.0136	M	0.74881	2.28	0.34970	D	0.753095	B;B;B	0.16396	0.007;0.017;0.017	B;B;B	0.15870	0.008;0.014;0.008	T	0.40664	-0.9551	10	0.87932	D	0	.	22.6959	0.99975	0.2404:0.7596:0.0:0.0	.	1263;830;1363	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	W	1363;1331;1295;1263;830	ENSP00000408464:R1363W;ENSP00000394888:R1295W;ENSP00000419438:R1263W;ENSP00000371766:R830W	ENSP00000287364:R1331W	R	+	1	2	DOCK8	411012	0.989000	0.36119	0.926000	0.36857	0.860000	0.49131	0.889000	0.28282	-0.423000	0.07394	-0.262000	0.10625	CGG	DOCK8-012	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354646.1		+	ENST00000469391.1	Missense_Mutation	SNP	9 : 421012 - 421012 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	563	70
NR2F6	2063	broad.mit.edu	37	19	17343433	17343433	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17343433C>T	ENST00000291442.3	-	4	1662	c.943G>A	c.(943-945)Gcc>Acc	p.A315T		NM_005234.3	NP_005225.2	P10588	NR2F6_HUMAN	nuclear receptor subfamily 2, group F, member 6	315	Ligand-binding (By similarity).				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						AGGCCACAGGCGTCTAGGGGG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	21	20			NA	NA	19		NA											NA				17343433		2203	4297	6500	SO:0001583	missense			X12794	CCDS12352.1	19p13.11	2013-09-20			ENSG00000160113	ENSG00000160113	2063	2063		Nuclear hormone receptors	7977	protein-coding gene	gene with protein product		132880		ERBAL2	NA	2905047	Standard		NM_005234	NA	Approved	EAR-2	uc002nfq.3	P10588	OTTHUMG00000182728	ENST00000291442.3:c.943G>A	19.37:g.17343433C>T	ENSP00000291442:p.Ala315Thr	NA	B2RC68|Q5XGA0|Q6P586|Q9BUE8	37	CCDS12352.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.681882	0.68042	.	.	ENSG00000160113	ENST00000291442;ENST00000536940	T	0.51817	0.69	4.71	4.71	0.59529	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	U	0.000000	T	0.58018	0.2093	L	0.35593	1.075	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.60596	-0.7232	10	0.54805	T	0.06	.	15.175	0.72903	0.0:1.0:0.0:0.0	.	315	P10588	NR2F6_HUMAN	T	315;288	ENSP00000291442:A315T	ENSP00000291442:A315T	A	-	1	0	NR2F6	17204433	1.000000	0.71417	1.000000	0.80357	0.588000	0.36517	5.943000	0.70211	2.168000	0.68352	0.555000	0.69702	GCC	NR2F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463325.1		-	ENST00000291442.3	Missense_Mutation	SNP	19 : 17343433 - 17343433 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	181	31
ERF	2077	broad.mit.edu	37	19	42753347	42753347	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42753347C>A	ENST00000222329.4	-	4	1074	c.917G>T	c.(916-918)aGc>aTc	p.S306I	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Missense_Mutation_p.S231I	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	306					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GTCCTCAGGGCTGAAGGAGAA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	53	52			NA	NA	19		NA											NA				42753347		2203	4298	6501	SO:0001583	missense			U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722	2077	2077			3444	protein-coding gene	gene with protein product	Ets2 repressor factor	611888			NA	7588608, 9192842	Standard	NM_006494	XM_005258644	NA	Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.917G>T	19.37:g.42753347C>A	ENSP00000222329:p.Ser306Ile	NA	B2RAP1|Q59G38|Q9UPI7	37	CCDS12600.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.329046	0.60743	.	.	ENSG00000105722	ENST00000222329;ENST00000440177	T;T	0.29397	1.57;1.57	5.09	4.05	0.47172	.	0.060727	0.64402	D	0.000007	T	0.14700	0.0355	N	0.08118	0	0.36871	D	0.88889	P	0.45126	0.851	B	0.38880	0.284	T	0.13629	-1.0502	10	0.87932	D	0	.	7.9331	0.29914	0.0:0.8129:0.0:0.1871	.	306	P50548	ERF_HUMAN	I	306;231	ENSP00000222329:S306I;ENSP00000388173:S231I	ENSP00000222329:S306I	S	-	2	0	ERF	47445187	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.991000	0.49409	1.271000	0.44313	0.655000	0.94253	AGC	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463684.1		-	ENST00000222329.4	Missense_Mutation	SNP	19 : 42753347 - 42753347 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	214	37
STIL	6491	broad.mit.edu	37	1	47759187	47759187	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47759187C>A	ENST00000360380.3	-	9	1178	c.815G>T	c.(814-816)aGt>aTt	p.S272I	STIL_ENST00000371877.3_Missense_Mutation_p.S272I|STIL_ENST00000337817.5_Missense_Mutation_p.S272I|STIL_ENST00000396221.2_Missense_Mutation_p.S272I|STIL_ENST00000243182.6_Missense_Mutation_p.S272I	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	272					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TACCTGAGGACTATAGATATG	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	125	123			NA	NA	1		NA											NA				47759187		2203	4300	6503	SO:0001583	missense			M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473	6491	6491			10879	protein-coding gene	gene with protein product		181590	TAL1 (SCL) interrupting locus	SIL	NA	2209547	Standard	NM_003035	NM_003035	NA	Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.815G>T	1.37:g.47759187C>A	ENSP00000353544:p.Ser272Ile	NA	Q5T0C5|Q68CN9	37	CCDS548.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677186	0.88445	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	5.75	5.75	0.90469	.	0.117689	0.85682	D	0.000000	T	0.71264	0.3319	M	0.76574	2.34	0.54753	D	0.999989	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.73177	-0.4065	10	0.87932	D	0	-17.9631	19.9662	0.97271	0.0:1.0:0.0:0.0	.	272;225;272;272;272	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468	.;.;.;.;STIL_HUMAN	I	272;272;272;272;272;225	ENSP00000353544:S272I;ENSP00000337367:S272I;ENSP00000360944:S272I;ENSP00000379523:S272I;ENSP00000243182:S272I;ENSP00000411664:S225I	ENSP00000243182:S272I	S	-	2	0	STIL	47531774	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.876000	0.39588	2.701000	0.92244	0.650000	0.86243	AGT	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021649.2		-	ENST00000360380.3	Missense_Mutation	SNP	1 : 47759187 - 47759187 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	472	110
BPNT1	10380	broad.mit.edu	37	1	220240718	220240718	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220240718T>C	ENST00000469520.2	-	7	849	c.400A>G	c.(400-402)Aca>Gca	p.T134A	BPNT1_ENST00000544404.1_Missense_Mutation_p.T79A|BPNT1_ENST00000414869.2_Missense_Mutation_p.T98A|BPNT1_ENST00000322067.7_Missense_Mutation_p.T134A|BPNT1_ENST00000482136.1_5'UTR|BPNT1_ENST00000354807.3_Missense_Mutation_p.T134A			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	134					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		ATAAGAACTGTTACATTGTCA	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	72	74			NA	NA	1		NA											NA				220240718		1811	4073	5884	SO:0001583	missense			AF125042	CCDS41469.1, CCDS65787.1, CCDS65788.1	1q42	2008-02-05			ENSG00000162813	ENSG00000162813	10380	10380	3.1.3.7		1096	protein-coding gene	gene with protein product		604053			NA	10224133	Standard	NM_006085	XM_005272998	NA	Approved		uc001hma.3	O95861	OTTHUMG00000037435	ENST00000469520.2:c.400A>G	1.37:g.220240718T>C	ENSP00000446828:p.Thr134Ala	NA	A8K7C8|D3DTA9|Q8WVL5|Q9UGJ3	37	CCDS41469.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.616325	0.87359	.	.	ENSG00000162813	ENST00000322067;ENST00000469520;ENST00000354807;ENST00000302686;ENST00000544404;ENST00000414869;ENST00000463953;ENST00000498791;ENST00000480959	T;T;T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.89188	0.6644	M	0.84433	2.695	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.99;0.997;0.984	D	0.90526	0.4492	10	0.62326	D	0.03	.	16.1611	0.81712	0.0:0.0:0.0:1.0	.	98;134;134	B4DUS9;A6NF51;O95861	.;.;BPNT1_HUMAN	A	134;134;134;134;79;98;98;98;79	ENSP00000318852:T134A;ENSP00000446828:T134A;ENSP00000346862:T134A;ENSP00000444398:T79A;ENSP00000410348:T98A;ENSP00000446953:T98A;ENSP00000446850:T98A;ENSP00000448740:T79A	ENSP00000307087:T134A	T	-	1	0	BPNT1	218307341	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	7.788000	0.85771	2.272000	0.75746	0.460000	0.39030	ACA	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091137.2		-	ENST00000469520.2	Missense_Mutation	SNP	1 : 220240718 - 220240718 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	55
ADCK2	90956	broad.mit.edu	37	7	140373894	140373894	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140373894G>A	ENST00000072869.4	+	1	942	c.764G>A	c.(763-765)gGa>gAa	p.G255E	ADCK2_ENST00000476491.1_Missense_Mutation_p.G255E	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	255	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					GAGCTCTTTGGATACCTTGGA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	62	60			NA	NA	7		NA											NA				140373894		2203	4300	6503	SO:0001583	missense			AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597	90956	90956			19039	protein-coding gene	gene with protein product					NA		Standard	NM_052853	NM_052853	NA	Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.764G>A	7.37:g.140373894G>A	ENSP00000072869:p.Gly255Glu	NA	Q96CN6|Q9Y6T5	37	CCDS5861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.50|14.50	2.554702|2.554702	0.45487|0.45487	.|.	.|.	ENSG00000133597|ENSG00000133597	ENST00000072869;ENST00000476491|ENST00000483369	T;T|.	0.11604|.	3.12;2.76|.	3.72|3.72	1.83|1.83	0.25207|0.25207	.|.	0.286988|.	0.30085|.	N|.	0.010442|.	T|.	0.40398|.	0.1115|.	L|L	0.54323|0.54323	1.7|1.7	0.27893|0.27893	N|N	0.939245|0.939245	P;P|.	0.41313|.	0.745;0.745|.	B;B|.	0.39935|.	0.314;0.314|.	T|.	0.31586|.	-0.9938|.	10|.	0.49607|.	T|.	0.09|.	-1.8332|-1.8332	5.9138|5.9138	0.19043|0.19043	0.1818:0.1595:0.6587:0.0|0.1818:0.1595:0.6587:0.0	.|.	255;255|.	C9JE15;Q7Z695|.	.;ADCK2_HUMAN|.	E|X	255|92	ENSP00000072869:G255E;ENSP00000420512:G255E|.	ENSP00000072869:G255E|.	G|W	+|+	2|3	0|0	ADCK2|ADCK2	140020363|140020363	0.742000|0.742000	0.28228|0.28228	0.007000|0.007000	0.13788|0.13788	0.017000|0.017000	0.09413|0.09413	1.173000|1.173000	0.31920|0.31920	0.240000|0.240000	0.21263|0.21263	0.561000|0.561000	0.74099|0.74099	GGA|TGG	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348734.1		+	ENST00000072869.4	Missense_Mutation	SNP	7 : 140373894 - 140373894 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	438	82
TET3	200424	broad.mit.edu	37	2	74273825	74273825	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74273825G>A	ENST00000409262.3	+	1	376	c.376G>A	c.(376-378)Gcc>Acc	p.A126T		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	126							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GACGGCCCTGGCCCTCGCGCG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	54	53			NA	NA	2		NA											NA				74273825		2046	4199	6245	SO:0001583	missense				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605	200424	200424			28313	protein-coding gene	gene with protein product		613555	tet oncogene family member 3		NA	9455477	Standard		XM_005264187	NA	Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.376G>A	2.37:g.74273825G>A	ENSP00000386869:p.Ala126Thr	NA	A6NEI3|Q86Z24|Q8TBM9	37	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676362	0.67928	.	.	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	T;T	0.28895	1.59;2.5	5.31	5.31	0.75309	.	.	.	.	.	T	0.25419	0.0618	N	0.24115	0.695	0.37515	D	0.917294	B	0.27853	0.191	B	0.26770	0.073	T	0.13683	-1.0500	9	0.56958	D	0.05	.	17.9029	0.88910	0.0:0.0:1.0:0.0	.	126	O43151	TET3_HUMAN	T	168;126;126	ENSP00000307803:A168T;ENSP00000386869:A126T	ENSP00000233310:A126T	A	+	1	0	TET3	74127333	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	4.283000	0.58977	2.768000	0.95171	0.561000	0.74099	GCC	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328141.4		+	ENST00000409262.3	Missense_Mutation	SNP	2 : 74273825 - 74273825 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	545	148
PDE8A	5151	broad.mit.edu	37	15	85652283	85652283	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85652283G>A	ENST00000310298.4	+	13	1288		c.e13-1		PDE8A_ENST00000557819.2_Splice_Site|PDE8A_ENST00000339708.5_Splice_Site|PDE8A_ENST00000557957.1_Splice_Site|PDE8A_ENST00000394553.1_Splice_Site			O60658	PDE8A_HUMAN	phosphodiesterase 8A	NA					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			TGTTTCTACAGATAATCAGAC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	94	95			NA	NA	15		NA											NA				85652283		2203	4299	6502	SO:0001630	splice_region_variant			AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	5151	5151	3.1.4.17	Phosphodiesterases	8793	protein-coding gene	gene with protein product		602972			NA	9618252	Standard	NM_002605	NM_001243137	NA	Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.1037-1G>A	15.37:g.85652283G>A		NA	B3KXE6|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	37	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457121	0.63401	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6931	0.62559	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDE8A	83453287	1.000000	0.71417	0.995000	0.50966	0.887000	0.51463	8.295000	0.89937	2.074000	0.62210	0.514000	0.50259	.	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000309018.1	Intron	+	ENST00000310298.4	Splice_Site	SNP	15 : 85652283 - 85652283 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	341	52
PRRC1	133619	broad.mit.edu	37	5	126887437	126887437	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:126887437G>A	ENST00000296666.8	+	9	1355	c.1167G>A	c.(1165-1167)tgG>tgA	p.W389*	PRRC1_ENST00000442138.2_3'UTR|PRRC1_ENST00000512635.2_Nonsense_Mutation_p.W389*|PRRC1_ENST00000513427.1_3'UTR	NM_130809.3	NP_570721.1	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	389						Golgi apparatus				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		ATCTGAGGTGGTCAGGCCTTT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	81	80			NA	NA	5		NA											NA				126887437		2203	4300	6503	SO:0001587	stop_gained			AJ515429	CCDS4143.1, CCDS68943.1	5q23.2	2008-02-05			ENSG00000164244	ENSG00000164244	133619	133619			28164	protein-coding gene	gene with protein product					NA	15541471	Standard	NM_130809	NM_130809	NA	Approved	FLJ32875	uc003kuk.3	Q96M27	OTTHUMG00000128982	ENST00000296666.8:c.1167G>A	5.37:g.126887437G>A	ENSP00000296666:p.Trp389*	NA	Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3	37	CCDS4143.1	.	.	.	.	.	.	.	.	.	.	G	37	6.613731	0.97705	.	.	ENSG00000164244	ENST00000296666;ENST00000330542;ENST00000512635;ENST00000512535	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.1058	17.8626	0.88786	0.0:0.0:1.0:0.0	.	.	.	.	X	389	.	ENSP00000296666:W389X	W	+	3	0	PRRC1	126915336	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.657000	0.98554	2.687000	0.91594	0.557000	0.71058	TGG	PRRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250971.3		+	ENST00000296666.8	Nonsense_Mutation	SNP	5 : 126887437 - 126887437 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	353	67
DENND4A	10260	broad.mit.edu	37	15	65962264	65962264	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65962264C>A	ENST00000443035.3	-	27	4853		c.e27-1		DENND4A_ENST00000431932.2_Splice_Site	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TAGAAAGTATCTGTAATGTGA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	131	134			NA	NA	15		NA											NA				65962264		1854	4093	5947	SO:0001630	splice_region_variant			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27			10260	10260		DENN/MADD domain containing	24321	protein-coding gene	gene with protein product		600382	c-myc promoter binding protein	MYCPBP	NA	8056341, 12906859	Standard	NM_005848	NM_005848	NA	Approved	IRLB	uc002api.3	Q7Z401		ENST00000443035.3:c.4638-1G>T	15.37:g.65962264C>A		NA	Q14655|Q86T77|Q8IVX2|Q8NB93	37	CCDS53949.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747899	0.89663	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DENND4A	63749318	0.994000	0.37717	1.000000	0.80357	0.901000	0.52897	3.405000	0.52630	2.937000	0.99478	0.650000	0.86243	.	DENND4A-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419609.1	Intron	-	ENST00000443035.3	Splice_Site	SNP	15 : 65962264 - 65962264 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	258	54
SLIT3	6586	broad.mit.edu	37	5	168244398	168244398	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:168244398G>A	ENST00000519560.1	-	8	1119	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	SLIT3_ENST00000332966.8_Missense_Mutation_p.R234W|SLIT3_ENST00000404867.3_Missense_Mutation_p.R234W	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	234	LRRCT 1.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAACTGTCCGTCGCTGTCGC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(29;311 847 10864 17279 24903)							NA				0													74	67	70			NA	NA	5		NA											NA				168244398		2203	4300	6503	SO:0001583	missense			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347	6586	6586			11087	protein-coding gene	gene with protein product		603745	slit (Drosophila) homolog 3	SLIL2	NA	9693030, 9813312	Standard	NM_003062	NM_001271946	NA	Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.700C>T	5.37:g.168244398G>A	ENSP00000430333:p.Arg234Trp	NA	A6H8U9|O95804|Q9UFH5	37	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826038	0.71143	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.77750	-1.12;-1.12;-1.12	5.62	-0.0254	0.13935	Cysteine-rich flanking region, C-terminal (1);	0.169770	0.49305	D	0.000159	T	0.79879	0.4522	L	0.45137	1.4	0.28541	N	0.912114	D;D;D	0.76494	0.999;0.999;0.994	P;D;P	0.63957	0.895;0.92;0.757	T	0.75311	-0.3362	10	0.87932	D	0	.	11.5006	0.50435	0.0:0.1126:0.3165:0.5709	.	234;234;234	O75094-2;O75094-3;O75094	.;.;SLIT3_HUMAN	W	234	ENSP00000430333:R234W;ENSP00000332164:R234W;ENSP00000384890:R234W	ENSP00000332164:R234W	R	-	1	2	SLIT3	168176976	0.997000	0.39634	0.813000	0.32504	0.990000	0.78478	3.642000	0.54367	-0.019000	0.14055	0.561000	0.74099	CGG	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252792.4		-	ENST00000519560.1	Missense_Mutation	SNP	5 : 168244398 - 168244398 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	272	63
FAM47C	442444	broad.mit.edu	37	X	37028071	37028071	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:37028071C>T	ENST00000358047.3	+	1	1640	c.1588C>T	c.(1588-1590)Ctg>Ttg	p.L530L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	530										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCCCAAGATTCTGGTGTCCAG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	83	84			NA	NA	X		NA											NA				37028071		2202	4300	6502	SO:0001819	synonymous_variant			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173	442444	442444			25301	protein-coding gene	gene with protein product					NA		Standard	NM_001013736	NM_001013736	NA	Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1588C>T	X.37:g.37028071C>T		NA	Q6ZU46	37	CCDS35227.1																																																																																			FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060508.1		+	ENST00000358047.3	Silent	SNP	X : 37028071 - 37028071 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	527	177
SLC36A3	285641	broad.mit.edu	37	5	150664259	150664259	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150664259G>T	ENST00000335230.3	-	7	1133	c.722C>A	c.(721-723)cCc>cAc	p.P241H	SLC36A3_ENST00000377713.3_Missense_Mutation_p.P282H	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	241						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAGGTTGCTGGGATATGGAAT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	93	97			NA	NA	5		NA											NA				150664259		2203	4300	6503	SO:0001583	missense			AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334	285641	285641		Solute carriers	19659	protein-coding gene	gene with protein product		608332			NA	12809675	Standard	NM_181774	NM_181774	NA	Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.722C>A	5.37:g.150664259G>T	ENSP00000334750:p.Pro241His	NA	Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	37	CCDS4314.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438396	0.43326	.	.	ENSG00000186334	ENST00000335230;ENST00000377713	T;T	0.02301	4.35;4.35	4.35	3.45	0.39498	.	0.052083	0.85682	N	0.000000	T	0.07548	0.0190	M	0.77103	2.36	0.45354	D	0.99834	B;P;B	0.38223	0.241;0.623;0.258	B;P;B	0.50192	0.202;0.634;0.202	T	0.35992	-0.9766	10	0.15499	T	0.54	.	13.1275	0.59364	0.0:0.0:0.8332:0.1668	.	282;241;226	Q495N2-3;Q495N2;Q495N2-2	.;S36A3_HUMAN;.	H	241;282	ENSP00000334750:P241H;ENSP00000366942:P282H	ENSP00000334750:P241H	P	-	2	0	SLC36A3	150644452	1.000000	0.71417	0.864000	0.33941	0.342000	0.28953	6.764000	0.74960	1.125000	0.41998	0.655000	0.94253	CCC	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252436.1		-	ENST00000335230.3	Missense_Mutation	SNP	5 : 150664259 - 150664259 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	219	20
ALG11	440138	broad.mit.edu	37	13	52593269	52593269	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52593269C>A	ENST00000521508.1	+	2	270	c.265C>A	c.(265-267)Ctg>Atg	p.L89M	ALG11_ENST00000523764.1_Intron	NM_001004127.2	NP_001004127.2			ALG11, alpha-1,2-mannosyltransferase	NA										endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		TTTAAGAGCCCTGCAGAAAAA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	52	52			NA	NA	13		NA											NA				52593269		2203	4300	6503	SO:0001583	missense			AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	440138	440138	2.4.1.131	Glycosyltransferase group 1 domain containing	32456	protein-coding gene	gene with protein product	GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase	613666	asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase), asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)		NA	20080937	Standard	NM_001004127	NM_001004127	NA	Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959	ENST00000521508.1:c.265C>A	13.37:g.52593269C>A	ENSP00000430236:p.Leu89Met	NA		37	CCDS31977.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053525	0.55218	.	.	ENSG00000253710	ENST00000521508	D	0.87966	-2.32	5.65	2.51	0.30379	.	0.000000	0.64402	U	0.000018	D	0.90410	0.6998	L	0.61218	1.895	0.58432	D	0.999991	D	0.89917	1.0	D	0.73708	0.981	D	0.88716	0.3226	10	0.51188	T	0.08	.	9.3483	0.38122	0.1211:0.7344:0.0:0.1445	.	89	Q2TAA5	ALG11_HUMAN	M	89	ENSP00000430236:L89M	ENSP00000430236:L89M	L	+	1	2	ALG11	51491270	0.993000	0.37304	0.999000	0.59377	0.992000	0.81027	3.044000	0.49830	0.724000	0.32296	0.579000	0.79373	CTG	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045050.1		+	ENST00000521508.1	Missense_Mutation	SNP	13 : 52593269 - 52593269 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	322	52
CCM2	83605	broad.mit.edu	37	7	45104190	45104190	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45104190C>T	ENST00000475551.1	+	4	1159	c.399C>T	c.(397-399)atC>atT	p.I133I	CCM2_ENST00000541586.1_Silent_p.I81I|CCM2_ENST00000258781.6_Silent_p.I139I|CCM2_ENST00000544363.1_Silent_p.I139I|CCM2_ENST00000474617.1_Silent_p.I133I|CCM2_ENST00000381112.3_Silent_p.I160I|CCM2_ENST00000461377.1_3'UTR			Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	139	PID.				endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding			NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TCCATGACATCGCCGCCGTCT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	55	66			NA	NA	7		NA											NA				45104190		2203	4300	6503	SO:0001819	synonymous_variant			BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280	83605	83605			21708	protein-coding gene	gene with protein product	malcavernin	607929	chromosome 7 open reading frame 22	C7orf22	NA	9811928	Standard	NM_031443	NM_001029835	NA	Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000475551.1:c.399C>T	7.37:g.45104190C>T		NA	A4D2L4|D3DVL4|Q71RE5|Q8TAT4	37																																																																																				CCM2-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000353675.1		+	ENST00000475551.1	Silent	SNP	7 : 45104190 - 45104190 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	172	31
CA3	761	broad.mit.edu	37	8	86352068	86352068	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86352068C>A	ENST00000285381.2	+	2	245	c.162C>A	c.(160-162)ggC>ggA	p.G54G		NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	54					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ATGATGGTGGCTCTGCCAAGA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	97	103			NA	NA	8		NA											NA				86352068		2203	4300	6503	SO:0001819	synonymous_variant			AJ006473	CCDS6238.1	8q21.2	2012-10-02					761	761	4.2.1.1	Carbonic anhydrases	1374	protein-coding gene	gene with protein product		114750			NA	6221502	Standard	NM_005181	NM_005181	NA	Approved	Car3, CAIII	uc003ydj.3	P07451		ENST00000285381.2:c.162C>A	8.37:g.86352068C>A		NA	B2R867|B3KUC8|O60842	37	CCDS6238.1																																																																																			CA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381090.1		+	ENST00000285381.2	Silent	SNP	8 : 86352068 - 86352068 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	399	71
PPARA	5465	broad.mit.edu	37	22	46614253	46614253	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46614253T>C	ENST00000396000.2	+	5	728	c.463T>C	c.(463-465)Tat>Cat	p.Y155H	PPARA_ENST00000402126.1_Missense_Mutation_p.Y155H|PPARA_ENST00000434345.2_Missense_Mutation_p.Y155H|PPARA_ENST00000262735.5_Missense_Mutation_p.Y155H|PPARA_ENST00000407236.1_Missense_Mutation_p.Y155H			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	155					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	CAAATGCCAGTATTGTCGATT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													221	193	203			NA	NA	22		NA											NA				46614253		2203	4300	6503	SO:0001583	missense			L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951	5465	5465		Nuclear hormone receptors	9232	protein-coding gene	gene with protein product		170998	peroxisome proliferative activated receptor, alpha	PPAR	NA	7684926, 10591208	Standard	NM_001001928	XM_005261655	NA	Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.463T>C	22.37:g.46614253T>C	ENSP00000379322:p.Tyr155His	NA	Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	37	CCDS33669.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.369900	0.82573	.	.	ENSG00000186951	ENST00000396000;ENST00000262735;ENST00000407236;ENST00000402126;ENST00000434345	D;D;D;D;D	0.97303	-4.33;-4.33;-4.33;-4.33;-4.33	5.67	4.65	0.58169	Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (4);	0.116886	0.64402	D	0.000011	D	0.97173	0.9076	L	0.45422	1.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.96883	0.9647	10	0.66056	D	0.02	.	10.7817	0.46382	0.0:0.0738:0.0:0.9262	.	155;155	F1D8S4;Q07869	.;PPARA_HUMAN	H	155	ENSP00000379322:Y155H;ENSP00000262735:Y155H;ENSP00000385523:Y155H;ENSP00000385246:Y155H;ENSP00000408149:Y155H	ENSP00000262735:Y155H	Y	+	1	0	PPARA	44992917	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	6.119000	0.71590	0.981000	0.38548	0.482000	0.46254	TAT	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318129.3		+	ENST00000396000.2	Missense_Mutation	SNP	22 : 46614253 - 46614253 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	784	149
ACR	49	broad.mit.edu	37	22	51182561	51182561	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51182561A>C	ENST00000216139.5	+	4	678	c.638A>C	c.(637-639)cAg>cCg	p.Q213P		NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	213	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		AACTCGACCCAGTGGTACAAT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													201	174	183			NA	NA	22		NA											NA				51182561		2203	4300	6503	SO:0001583	missense			CR456366	CCDS14101.1	22q13.33	2012-10-23	2012-10-23		ENSG00000100312	ENSG00000100312	49	49	3.4.21.10		126	protein-coding gene	gene with protein product	preproacrosin, acrosin light and heavy chain prepropeptide	102480			NA	2298447, 12398221	Standard	NM_001097	NM_001097	NA	Approved		uc003bnh.4	P10323	OTTHUMG00000150155	ENST00000216139.5:c.638A>C	22.37:g.51182561A>C	ENSP00000216139:p.Gln213Pro	NA	Q6ICK2	37	CCDS14101.1	.	.	.	.	.	.	.	.	.	.	N	15.78	2.933640	0.52866	.	.	ENSG00000100312	ENST00000216139	T	0.59083	0.29	4.48	0.716	0.18191	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.999557	0.08091	N	0.999345	T	0.57504	0.2058	N	0.25380	0.74	0.09310	N	1	D	0.57571	0.98	P	0.61070	0.883	T	0.48736	-0.9009	10	0.39692	T	0.17	-2.5812	7.2849	0.26333	0.6744:0.0:0.3256:0.0	.	213	P10323	ACRO_HUMAN	P	213	ENSP00000216139:Q213P	ENSP00000216139:Q213P	Q	+	2	0	ACR	49529427	0.000000	0.05858	0.025000	0.17156	0.985000	0.73830	-0.661000	0.05311	-0.081000	0.12662	0.370000	0.22315	CAG	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316605.2		+	ENST00000216139.5	Missense_Mutation	SNP	22 : 51182561 - 51182561 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	831	85
TUBGCP2	10844	broad.mit.edu	37	10	135103451	135103451	+	Missense_Mutation	SNP	C	C	T	rs145657678		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135103451C>T	ENST00000252936.3	-	8	1276	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	TUBGCP2_ENST00000368562.1_Missense_Mutation_p.E6K|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.E283K|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.E441K|TUBGCP2_ENST00000368563.2_Missense_Mutation_p.E413K			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	413					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		TTCCGCAGCTCGTGCTCCTCG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	LYS/GLU	0,4406		0,0,2203	252	173	200		1237	5.6	1	10	dbSNP_134	200	5,8595	4.3+/-15.6	0,5,4295	yes	missense	TUBGCP2	NM_006659.2	56	0,5,6498	TT,TC,CC	NA	0.0581,0.0,0.0384	benign	413/903	135103451	5,13001	2203	4300	6503	SO:0001583	missense			AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640	10844	10844			18599	protein-coding gene	gene with protein product					NA	9566967	Standard		NM_001256617	NA	Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.1237G>A	10.37:g.135103451C>T	ENSP00000252936:p.Glu413Lys	NA	O43632|Q5VWX7	37	CCDS7676.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000465	0.74818	0.0	5.81E-4	ENSG00000130640	ENST00000252936;ENST00000417178;ENST00000368563;ENST00000368562;ENST00000543663	T;T;T;T;T	0.30448	2.44;2.21;2.44;1.53;2.49	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.30947	0.0781	N	0.21508	0.67	0.80722	D	1	P;P;P	0.48407	0.744;0.604;0.91	B;B;P	0.48795	0.18;0.274;0.59	T	0.01108	-1.1449	10	0.23891	T	0.37	-39.9652	18.667	0.91493	0.0:1.0:0.0:0.0	.	441;441;413	F5H4L0;B7ZKL8;Q9BSJ2	.;.;GCP2_HUMAN	K	413;283;413;6;441	ENSP00000252936:E413K;ENSP00000395666:E283K;ENSP00000357551:E413K;ENSP00000357550:E6K;ENSP00000446093:E441K	ENSP00000252936:E413K	E	-	1	0	TUBGCP2	134953441	1.000000	0.71417	0.998000	0.56505	0.297000	0.27493	5.789000	0.69029	2.832000	0.97577	0.655000	0.94253	GAG	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051148.1		-	ENST00000252936.3	Missense_Mutation	SNP	10 : 135103451 - 135103451 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	73
HNRNPA0	10949	broad.mit.edu	37	5	137089345	137089345	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137089345C>A	ENST00000314940.4	-	1	694	c.411G>T	c.(409-411)aaG>aaT	p.K137N		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	137	RRM 2.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|RNA binding			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATCCACGCTTCTTGCCGGACT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	64	64			NA	NA	5		NA											NA				137089345		2203	4300	6503	SO:0001583	missense			U23803	CCDS4193.1	5q31	2013-02-12		2007-08-16	ENSG00000177733	ENSG00000177733	10949	10949		RNA binding motif (RRM) containing	5030	protein-coding gene	gene with protein product		609409		HNRPA0	NA	7585247	Standard	NM_006805	NM_006805	NA	Approved	hnRNPA0	uc003lbt.3	Q13151	OTTHUMG00000129156	ENST00000314940.4:c.411G>T	5.37:g.137089345C>A	ENSP00000316042:p.Lys137Asn	NA	Q6IB18	37	CCDS4193.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339057	0.81911	.	.	ENSG00000177733	ENST00000314940	D	0.93712	-3.27	4.98	4.98	0.66077	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	U	0.000000	D	0.95695	0.8600	M	0.67569	2.06	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	D	0.95970	0.8969	10	0.87932	D	0	.	13.6089	0.62063	0.0:0.9223:0.0:0.0777	.	137	Q13151	ROA0_HUMAN	N	137	ENSP00000316042:K137N	ENSP00000316042:K137N	K	-	3	2	HNRNPA0	137117244	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	3.201000	0.51059	2.317000	0.78254	0.305000	0.20034	AAG	HNRNPA0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251221.1		-	ENST00000314940.4	Missense_Mutation	SNP	5 : 137089345 - 137089345 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	402	96
KATNBL1	79768	broad.mit.edu	37	15	34440855	34440855	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34440855C>T	ENST00000256544.3	-	5	677	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K		NM_024713.2	NP_078989.1			katanin p80 subunit B-like 1	NA											NA						GCTACAAGTTCACTTATACTT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	87	95			NA	NA	15		NA											NA				34440855		2201	4298	6499	SO:0001583	missense			AL136908	CCDS10034.1	15q13.2	2012-09-27	2012-09-27	2012-09-27	ENSG00000134152	ENSG00000134152	79768	79768			26199	protein-coding gene	gene with protein product			chromosome 15 open reading frame 29	C15orf29	NA	11230166	Standard	NM_024713	NM_024713	NA	Approved	FLJ22557	uc001zhp.3	Q9H079	OTTHUMG00000129368	ENST00000256544.3:c.535G>A	15.37:g.34440855C>T	ENSP00000256544:p.Glu179Lys	NA		37	CCDS10034.1	.	.	.	.	.	.	.	.	.	.	C	35	5.490389	0.96339	.	.	ENSG00000134152	ENST00000256544;ENST00000540594	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.74419	0.3714	L	0.60455	1.87	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.67090	-0.5758	9	0.08837	T	0.75	.	19.4495	0.94861	0.0:1.0:0.0:0.0	.	179	Q9H079	CO029_HUMAN	K	179;83	.	ENSP00000256544:E179K	E	-	1	0	C15orf29	32228147	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.659000	0.74412	2.608000	0.88229	0.585000	0.79938	GAA	KATNBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251520.1		-	ENST00000256544.3	Missense_Mutation	SNP	15 : 34440855 - 34440855 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	31
ZNF583	147949	broad.mit.edu	37	19	56935091	56935091	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56935091A>C	ENST00000333201.9	+	5	1274	c.1064A>C	c.(1063-1065)aAt>aCt	p.N355T	ZNF583_ENST00000585612.1_3'UTR|ZNF583_ENST00000291598.7_Missense_Mutation_p.N355T	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TATGTGTGTAATGTGTGTGGG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	128	127			NA	NA	19		NA											NA				56935091		2203	4300	6503	SO:0001583	missense			AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440	147949	147949		Zinc fingers, C2H2-type, -	26427	protein-coding gene	gene with protein product					NA		Standard	NM_152478	NM_152478	NA	Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1064A>C	19.37:g.56935091A>C	ENSP00000388502:p.Asn355Thr	NA	O14850|Q2NKK3	37	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	A	9.308	1.054718	0.19907	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.07444	3.19;3.19	4.33	2.2	0.27929	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.462253	0.18306	N	0.145252	T	0.05090	0.0136	N	0.05177	-0.1	0.09310	N	1	B	0.31026	0.304	B	0.42959	0.403	T	0.44892	-0.9298	9	.	.	.	.	4.4064	0.11411	0.6477:0.1809:0.1715:0.0	.	355	Q96ND8	ZN583_HUMAN	T	355	ENSP00000291598:N355T;ENSP00000388502:N355T	.	N	+	2	0	ZNF583	61626903	0.000000	0.05858	0.002000	0.10522	0.946000	0.59487	-2.053000	0.01400	0.784000	0.33661	0.379000	0.24179	AAT	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401453.1		+	ENST00000333201.9	Missense_Mutation	SNP	19 : 56935091 - 56935091 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	435	85
PPARGC1B	133522	broad.mit.edu	37	5	149216334	149216334	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149216334G>A	ENST00000309241.5	+	8	2348	c.2316G>A	c.(2314-2316)gaG>gaA	p.E772E	PPARGC1B_ENST00000360453.4_Silent_p.E733E|PPARGC1B_ENST00000394320.3_Silent_p.E772E|PPARGC1B_ENST00000403750.1_Silent_p.E708E	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	772	Glu-rich.				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGCTGCTGGAGACCGCCCTGG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	111	109			NA	NA	5		NA											NA				149216334		2203	4300	6503	SO:0001819	synonymous_variant			AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846	133522	133522		RNA binding motif (RRM) containing	30022	protein-coding gene	gene with protein product		608886	peroxisome proliferative activated receptor, gamma, coactivator 1, beta		NA	11793024, 11854298	Standard	NM_133263	NM_133263	NA	Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2316G>A	5.37:g.149216334G>A		NA	A2RUM8|A2RUN0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	37	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	G	5.169	0.216807	0.09810	.	.	ENSG00000155846	ENST00000434684	.	.	.	4.93	-1.35	0.09114	.	.	.	.	.	T	0.19446	0.0467	.	.	.	0.29451	N	0.858469	.	.	.	.	.	.	T	0.29027	-1.0025	4	.	.	.	-10.0845	0.4038	0.00430	0.251:0.2731:0.2459:0.23	.	.	.	.	N	459	.	.	D	+	1	0	PPARGC1B	149196527	0.894000	0.30519	0.255000	0.24374	0.993000	0.82548	0.833000	0.27504	-0.040000	0.13580	0.462000	0.41574	GAC	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252334.1		+	ENST00000309241.5	Silent	SNP	5 : 149216334 - 149216334 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1138	187
TAB2	23118	broad.mit.edu	37	6	149699842	149699842	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:149699842C>A	ENST00000367456.1	+	4	1368	c.791C>A	c.(790-792)cCt>cAt	p.P264H	TAB2_ENST00000536230.1_Missense_Mutation_p.P232H|TAB2_ENST00000392282.1_Missense_Mutation_p.P264H|TAB2_ENST00000286332.5_Missense_Mutation_p.P264H|TAB2_ENST00000538427.1_Missense_Mutation_p.P264H			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	264					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|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	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						GCATCTAATCCTCTGTCACAT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	163	168			NA	NA	6		NA											NA				149699842		2203	4300	6503	SO:0001583	missense			AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208	23118	23118			17075	protein-coding gene	gene with protein product		605101	mitogen-activated protein kinase kinase kinase 7 interacting protein 2	MAP3K7IP2	NA	9872452, 10882101	Standard		XR_250046	NA	Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.791C>A	6.37:g.149699842C>A	ENSP00000356426:p.Pro264His	NA	B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	37	CCDS5214.1	.	.	.	.	.	.	.	.	.	.	C	4.208	0.037412	0.08148	.	.	ENSG00000055208	ENST00000536230;ENST00000392282;ENST00000538427;ENST00000367456;ENST00000286332	T;T;T;T;T	0.78481	-1.18;-1.09;-1.14;-1.14;-1.14	6.16	6.16	0.99307	.	0.301553	0.37393	N	0.002105	T	0.55862	0.1947	L	0.29908	0.895	0.45076	D	0.998098	P;P	0.45283	0.855;0.855	B;B	0.37091	0.241;0.241	T	0.59573	-0.7429	10	0.13470	T	0.59	-7.5015	20.8598	0.99761	0.0:1.0:0.0:0.0	.	232;264	B4DIR9;Q9NYJ8	.;TAB2_HUMAN	H	232;264;264;264;264	ENSP00000443206:P232H;ENSP00000376106:P264H;ENSP00000445752:P264H;ENSP00000356426:P264H;ENSP00000286332:P264H	ENSP00000286332:P264H	P	+	2	0	TAB2	149741535	0.999000	0.42202	0.416000	0.26546	0.002000	0.02628	5.594000	0.67557	2.937000	0.99478	0.650000	0.86243	CCT	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042633.3		+	ENST00000367456.1	Missense_Mutation	SNP	6 : 149699842 - 149699842 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	862	147
SH3RF2	153769	broad.mit.edu	37	5	145393591	145393591	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145393591G>A	ENST00000511217.1	+	4	1078	c.1026G>A	c.(1024-1026)gaG>gaA	p.E342E	SH3RF2_ENST00000359120.4_Silent_p.E342E			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	342							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCCATGGAGAAAGCAGACG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	98	98			NA	NA	5		NA											NA				145393591		2203	4300	6503	SO:0001819	synonymous_variant			AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463	153769	153769		RING-type (C3HC4) zinc fingers, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	26299	protein-coding gene	gene with protein product	heart protein phosphatase 1-binding protein, POSH-eliminating RING protein	613377	protein phosphatase 1, regulatory subunit 39	PPP1R39	NA	22128169	Standard	NM_152550	NM_152550	NA	Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1026G>A	5.37:g.145393591G>A		NA	A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	37	CCDS4280.1																																																																																			SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372804.1		+	ENST00000511217.1	Silent	SNP	5 : 145393591 - 145393591 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	664	111
LMOD1	25802	broad.mit.edu	37	1	201869208	201869208	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201869208C>A	ENST00000367288.4	-	2	1179	c.933G>T	c.(931-933)gaG>gaT	p.E311D		NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	311					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GAGCTGCCTCCTCCTCCACCT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	68	68			NA	NA	1		NA											NA				201869208		2053	4196	6249	SO:0001583	missense			X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431	25802	25802			6647	protein-coding gene	gene with protein product		602715			NA		Standard		NM_012134	NA	Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.933G>T	1.37:g.201869208C>A	ENSP00000356257:p.Glu311Asp	NA	B1APV6|C4AMB1|Q68EN2	37	CCDS53457.1	.	.	.	.	.	.	.	.	.	.	C	9.124	1.009822	0.19277	.	.	ENSG00000163431	ENST00000367288;ENST00000400965;ENST00000412469	D	0.91792	-2.91	5.08	3.95	0.45737	.	0.000000	0.40385	N	0.001120	D	0.85952	0.5817	L	0.45137	1.4	0.33461	D	0.584948	B;B	0.33448	0.355;0.412	B;B	0.27262	0.057;0.078	D	0.87607	0.2501	10	0.38643	T	0.18	-35.2165	9.3458	0.38107	0.0:0.8837:0.0:0.1163	.	260;311	B4E3S9;P29536	.;LMOD1_HUMAN	D	311;311;260	ENSP00000356257:E311D	ENSP00000356257:E311D	E	-	3	2	LMOD1	200135831	0.530000	0.26330	1.000000	0.80357	0.280000	0.26924	-0.223000	0.09177	2.355000	0.79922	0.505000	0.49811	GAG	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087085.2		-	ENST00000367288.4	Missense_Mutation	SNP	1 : 201869208 - 201869208 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	254	66
SYNE2	23224	broad.mit.edu	37	14	64679654	64679654	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64679654C>T	ENST00000554584.1	+	106	18915	c.18864C>T	c.(18862-18864)ctC>ctT	p.L6288L	SYNE2_ENST00000554805.1_Silent_p.L112L|SYNE2_ENST00000555022.1_Silent_p.L207L|SYNE2_ENST00000344113.4_Silent_p.L6329L|SYNE2_ENST00000555002.1_Silent_p.L2963L|SYNE2_ENST00000357395.3_Silent_p.L2714L|SYNE2_ENST00000358025.3_Silent_p.L6329L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Silent_p.L2714L			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6329					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGGAGGAACTCCACCGCTACT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	91	92			NA	NA	14		NA											NA				64679654		2203	4300	6503	SO:0001819	synonymous_variant			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654	23224	23224			17084	protein-coding gene	gene with protein product	nuclear envelope spectrin repeat-2, nucleus and actin connecting element	608442			NA	10231032, 10878022	Standard	NM_182914	NM_182910	NA	Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000554584.1:c.18864C>T	14.37:g.64679654C>T		NA	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	37																																																																																				SYNE2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000411905.1		+	ENST00000554584.1	Silent	SNP	14 : 64679654 - 64679654 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	560	121
FILIP1L	11259	broad.mit.edu	37	3	99567800	99567800	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:99567800G>A	ENST00000331335.5	-	5	3190	c.2720C>T	c.(2719-2721)aCt>aTt	p.T907I	CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.T483I|FILIP1L_ENST00000471562.1_Missense_Mutation_p.T667I|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.T667I|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.T907I	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	907						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						ATGGTCTGGAGTAACCTTTAT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													228	225	226			NA	NA	3		NA											NA				99567800		2033	4185	6218	SO:0001583	missense				CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386	11259	11259			24589	protein-coding gene	gene with protein product	downregulated in ovarian cancer 1, GPBP-interacting protein of 130 kDa	612993			NA	8314147, 15935955, 21832087	Standard	NM_014890	NM_001282793	NA	Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000331335.5:c.2720C>T	3.37:g.99567800G>A	ENSP00000327880:p.Thr907Ile	NA	B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	37	CCDS43118.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.716834	0.48622	.	.	ENSG00000168386	ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T;T	0.40756	1.86;1.02;1.53;1.86;1.53;1.57	6.11	5.24	0.73138	.	0.000000	0.53938	D	0.000050	T	0.62502	0.2433	M	0.62723	1.935	0.43824	D	0.996392	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	T	0.66143	-0.5997	10	0.72032	D	0.01	-14.1944	15.423	0.75028	0.0661:0.0:0.9339:0.0	.	907;907	Q4L180-2;Q4L180	.;FIL1L_HUMAN	I	907;483;667;907;667;653;667	ENSP00000346560:T907I;ENSP00000417774:T483I;ENSP00000419642:T667I;ENSP00000327880:T907I;ENSP00000373192:T667I;ENSP00000419874:T667I	ENSP00000327880:T907I	T	-	2	0	FILIP1L	101050490	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.537000	0.73847	1.605000	0.50152	0.609000	0.83330	ACT	FILIP1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353070.1		-	ENST00000331335.5	Missense_Mutation	SNP	3 : 99567800 - 99567800 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1161	218
RELN	5649	broad.mit.edu	37	7	103141228	103141228	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103141228G>T	ENST00000428762.1	-	53	8790	c.8631C>A	c.(8629-8631)taC>taA	p.Y2877*	RELN_ENST00000343529.5_Nonsense_Mutation_p.Y2877*|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Nonsense_Mutation_p.Y2877*	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2877	EGF-like 7.				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)		TTGGCCCTGAGTATCCCGGAT	0.512		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													232	180	197			NA	NA	7		NA											NA				103141228		2203	4300	6503	SO:0001587	stop_gained				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.8631C>A	7.37:g.103141228G>T	ENSP00000392423:p.Tyr2877*	NA	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	50	17.167829	0.99880	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	.	.	.	5.36	4.47	0.54385	.	0.187164	0.48767	D	0.000172	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.7502	0.46205	0.1447:0.0:0.8553:0.0	.	.	.	.	X	2877;2877;2877;394;2877	.	ENSP00000345694:Y2877X	Y	-	3	2	RELN	102928464	1.000000	0.71417	0.995000	0.50966	0.938000	0.57974	3.209000	0.51122	2.489000	0.83994	0.655000	0.94253	TAC	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348148.1		-	ENST00000428762.1	Nonsense_Mutation	SNP	7 : 103141228 - 103141228 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	560	20
SYT5	6861	broad.mit.edu	37	19	55687085	55687085	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55687085C>T	ENST00000354308.3	-	5	901	c.532G>A	c.(532-534)Gcc>Acc	p.A178T	SYT5_ENST00000537500.1_Missense_Mutation_p.A178T|SYT5_ENST00000590851.1_Missense_Mutation_p.A175T|CTD-2587H24.5_ENST00000591665.1_RNA	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	178	C2 1.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		ACCTTGAAGGCGAAGGTCTCC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	114	117			NA	NA	19		NA											NA				55687085		2203	4300	6503	SO:0001583	missense			X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990	6861	6861		Synaptotagmins	11513	protein-coding gene	gene with protein product	synaptotagmin 5	600782			NA	9177789	Standard	NM_003180	XM_006723338	NA	Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.532G>A	19.37:g.55687085C>T	ENSP00000346265:p.Ala178Thr	NA	Q86X72	37	CCDS12919.1	.	.	.	.	.	.	.	.	.	.	C	7.866	0.727184	0.15439	.	.	ENSG00000129990	ENST00000537500;ENST00000354308;ENST00000543844	T;T	0.67698	-0.28;-0.28	4.54	3.41	0.39046	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.319059	0.33199	N	0.005177	T	0.22859	0.0552	N	0.00595	-1.35	0.32241	N	0.572744	B;B;B	0.21753	0.047;0.06;0.008	B;B;B	0.20955	0.032;0.005;0.01	T	0.46569	-0.9182	10	0.02654	T	1	.	3.4824	0.07607	0.2164:0.5961:0.0:0.1876	.	175;178;178	B7Z300;Q4FD32;O00445	.;.;SYT5_HUMAN	T	178;178;175	ENSP00000442896:A178T;ENSP00000346265:A178T	ENSP00000346265:A178T	A	-	1	0	SYT5	60378897	0.910000	0.30920	0.990000	0.47175	0.955000	0.61496	1.263000	0.33004	2.480000	0.83734	0.555000	0.69702	GCC	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452501.1		-	ENST00000354308.3	Missense_Mutation	SNP	19 : 55687085 - 55687085 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	508	80
NUP107	57122	broad.mit.edu	37	12	69125432	69125432	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69125432G>A	ENST00000539906.1	+	22	2088	c.1844G>A	c.(1843-1845)cGa>cAa	p.R615Q	NUP107_ENST00000229179.4_Missense_Mutation_p.R644Q|NUP107_ENST00000378905.2_Intron			P57740	NU107_HUMAN	nucleoporin 107kDa	644					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GAGAATATTCGAAAGAAAGAT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	66	65			NA	NA	12		NA											NA				69125432		2203	4300	6503	SO:0001583	missense			AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581	57122	57122			29914	protein-coding gene	gene with protein product		607617			NA	12552102, 12705868	Standard	NM_020401	XM_005269037	NA	Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000539906.1:c.1844G>A	12.37:g.69125432G>A	ENSP00000441448:p.Arg615Gln	NA		37		.	.	.	.	.	.	.	.	.	.	G	27.2	4.805898	0.90623	.	.	ENSG00000111581	ENST00000229179;ENST00000539906	.	.	.	5.59	5.59	0.84812	.	0.059343	0.64402	D	0.000003	T	0.69593	0.3128	M	0.73598	2.24	0.80722	D	1	P;P	0.45283	0.855;0.768	P;B	0.45119	0.47;0.346	T	0.70096	-0.4966	8	.	.	.	-0.1557	19.9688	0.97277	0.0:0.0:1.0:0.0	.	615;644	B4DZ67;P57740	.;NU107_HUMAN	Q	644;615	.	.	R	+	2	0	NUP107	67411699	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.492000	0.73654	2.804000	0.96469	0.650000	0.86243	CGA	NUP107-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000403200.1		+	ENST00000539906.1	Missense_Mutation	SNP	12 : 69125432 - 69125432 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	426	29
PHF12	57649	broad.mit.edu	37	17	27238239	27238239	+	Silent	SNP	G	G	A	rs143319936		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27238239G>A	ENST00000577226.1	-	10	2452	c.2106C>T	c.(2104-2106)ccC>ccT	p.P702P	PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000332830.4_Silent_p.P702P			Q96QT6	PHF12_HUMAN	PHD finger protein 12	702	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			ATAACGTGCCGGGGCTGACCT	0.557		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	154	124	134		2106	4.6	1	17	dbSNP_134	134	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PHF12	NM_001033561.1		0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154		702/1005	27238239	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118	57649	57649		Zinc fingers, PHD-type	20816	protein-coding gene	gene with protein product					NA	11390640	Standard	NM_020889	XM_005258015	NA	Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000577226.1:c.2106C>T	17.37:g.27238239G>A		NA	Q0VAI5|Q6ZML2|Q9BV34|Q9H7U9|Q9P205	37																																																																																				PHF12-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000446737.3		-	ENST00000577226.1	Silent	SNP	17 : 27238239 - 27238239 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	285	58
ACCS	84680	broad.mit.edu	37	11	44105286	44105286	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44105286G>T	ENST00000263776.8	+	15	1884	c.1450G>T	c.(1450-1452)Gtg>Ttg	p.V484L		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	484							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						CAAATCCCAAGTGGCAGAAGA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(158;148 1889 8077 23160 41213)							NA				0													51	48	49			NA	NA	11		NA											NA				44105286		2203	4300	6503	SO:0001583	missense			AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455	84680	84680			23989	protein-coding gene	gene with protein product		608405			NA	11470512	Standard	NM_032592	NM_032592	NA	Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.1450G>T	11.37:g.44105286G>T	ENSP00000263776:p.Val484Leu	NA	Q8WUL4|Q96LX5	37	CCDS7907.1	.	.	.	.	.	.	.	.	.	.	G	5.760	0.324563	0.10900	.	.	ENSG00000110455	ENST00000263776	T	0.59772	0.24	5.38	1.32	0.21799	.	1.269890	0.05154	N	0.496626	T	0.38506	0.1043	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19031	-1.0318	10	0.28530	T	0.3	-1.5062	5.4491	0.16552	0.2467:0.1441:0.6092:0.0	.	484	Q96QU6	1A1L1_HUMAN	L	484	ENSP00000263776:V484L	ENSP00000263776:V484L	V	+	1	0	ACCS	44061862	0.060000	0.20803	0.000000	0.03702	0.002000	0.02628	0.234000	0.17930	0.052000	0.16007	-0.140000	0.14226	GTG	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389721.1		+	ENST00000263776.8	Missense_Mutation	SNP	11 : 44105286 - 44105286 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	236	13
NDFIP1	80762	broad.mit.edu	37	5	141524156	141524156	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141524156G>T	ENST00000253814.4	+	7	1053	c.583G>T	c.(583-585)Gga>Tga	p.G195*		NM_030571.3	NP_085048.1	Q9BT67	NFIP1_HUMAN	Nedd4 family interacting protein 1	195					cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endosome membrane|extracellular region|Golgi membrane|integral to membrane|perinuclear region of cytoplasm	signal transducer activity			large_intestine(3)|lung(1)|ovary(1)	5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTTCTCAGAGGATTTATCAA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	104	99			NA	NA	5		NA											NA				141524156		2194	4295	6489	SO:0001587	stop_gained			BC004317	CCDS4273.1	5q31.3	2008-02-05			ENSG00000131507	ENSG00000131507	80762	80762			17592	protein-coding gene	gene with protein product		612050			NA	11042109, 11748237	Standard	NM_030571	NM_030571	NA	Approved	N4WBP5, MGC10924	uc003lmi.4	Q9BT67	OTTHUMG00000129659	ENST00000253814.4:c.583G>T	5.37:g.141524156G>T	ENSP00000253814:p.Gly195*	NA	B2RDB8|D3DQF0|Q658T8|Q8N2E3|Q8N2F9	37	CCDS4273.1	.	.	.	.	.	.	.	.	.	.	G	42	9.550999	0.99202	.	.	ENSG00000131507	ENST00000253814	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.1228	19.5914	0.95514	0.0:0.0:1.0:0.0	.	.	.	.	X	195	.	ENSP00000253814:G195X	G	+	1	0	NDFIP1	141504340	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.708000	0.92522	0.563000	0.77884	GGA	NDFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251859.2		+	ENST00000253814.4	Nonsense_Mutation	SNP	5 : 141524156 - 141524156 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	928	159
FZD9	8326	broad.mit.edu	37	7	72849343	72849343	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72849343C>T	ENST00000344575.3	+	1	1235	c.1006C>T	c.(1006-1008)Ctc>Ttc	p.L336F		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	336					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGTCCTGACGCTCACCTGGTT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(144;909 1878 36867 38226 39554)							NA				0													77	71	73			NA	NA	7		NA											NA				72849343		2203	4300	6503	SO:0001583	missense			U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763	8326	8326		GPCR / Class F : Frizzled receptors, CD molecules	4047	protein-coding gene	gene with protein product		601766	frizzled (Drosophila) homolog 9, frizzled homolog 9 (Drosophila), frizzled 9, seven transmembrane spanning receptor, frizzled family receptor 9		NA	9147651, 10198163	Standard		NM_003508	NA	Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.1006C>T	7.37:g.72849343C>T	ENSP00000345785:p.Leu336Phe	NA		37	CCDS5548.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808435	0.70797	.	.	ENSG00000188763	ENST00000344575	T	0.48201	0.82	4.3	4.3	0.51218	GPCR, family 2-like (1);	0.000000	0.64402	U	0.000008	T	0.59183	0.2175	L	0.48877	1.53	0.80722	D	1	D	0.54207	0.965	D	0.63381	0.914	T	0.57808	-0.7747	10	0.36615	T	0.2	.	16.0988	0.81152	0.0:1.0:0.0:0.0	.	336	O00144	FZD9_HUMAN	F	336	ENSP00000345785:L336F	ENSP00000345785:L336F	L	+	1	0	FZD9	72487279	0.998000	0.40836	0.998000	0.56505	0.991000	0.79684	3.821000	0.55700	2.105000	0.64084	0.563000	0.77884	CTC	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252120.1		+	ENST00000344575.3	Missense_Mutation	SNP	7 : 72849343 - 72849343 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	515	90
EXO1	9156	broad.mit.edu	37	1	242024727	242024727	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242024727G>A	ENST00000366548.3	+	10	1557	c.964G>A	c.(964-966)Gct>Act	p.A322T	EXO1_ENST00000518483.1_Missense_Mutation_p.A322T|EXO1_ENST00000348581.5_Missense_Mutation_p.A322T	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	322	Interaction with MSH3.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TGATTCCATAGCTCTTCAAAT	0.308		NA						Editing and processing nucleases						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	77	77			NA	NA	1		NA											NA				242024727		2203	4300	6503	SO:0001583	missense			AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371	9156	9156			3511	protein-coding gene	gene with protein product	rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1	606063			NA	9685493, 9788596	Standard	NM_006027	NM_003686	NA	Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.964G>A	1.37:g.242024727G>A	ENSP00000355506:p.Ala322Thr	NA	O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	37	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	G	30	5.051702	0.93793	.	.	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483	T;T;T	0.36520	1.25;1.25;1.25	4.95	4.95	0.65309	-3&apos (1); exonuclease, C-terminal domain (1);5&apos (1);	0.247249	0.39083	N	0.001461	T	0.64692	0.2621	M	0.82323	2.585	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.77004	0.966;0.989;0.952	T	0.70655	-0.4812	10	0.72032	D	0.01	-4.9476	18.1442	0.89649	0.0:0.0:1.0:0.0	.	322;322;322	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	T	322	ENSP00000355506:A322T;ENSP00000311873:A322T;ENSP00000430251:A322T	ENSP00000311873:A322T	A	+	1	0	EXO1	240091350	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.099000	0.94207	2.463000	0.83235	0.655000	0.94253	GCT	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096405.1		+	ENST00000366548.3	Missense_Mutation	SNP	1 : 242024727 - 242024727 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	185	28
AKAP9	10142	broad.mit.edu	37	7	91631643	91631643	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91631643T>C	ENST00000356239.3	+	8	2645	c.2412T>C	c.(2410-2412)atT>atC	p.I804I	AKAP9_ENST00000358100.2_Silent_p.I816I|AKAP9_ENST00000359028.2_Silent_p.I816I	NM_005751.4|NM_147185.2	NP_005742.4|NP_671714.1	Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	816	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAGATTGATTTTCTTAGACT	0.338		NA	T	BRAF	papillary thyroid									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													70	77	74			NA	NA	7		NA											NA				91631643		2203	4296	6499	SO:0001819	synonymous_variant			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914	10142	10142		A-kinase anchor proteins, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	379	protein-coding gene	gene with protein product	A-kinase anchoring protein 450, AKAP9-BRAF fusion protein, AKAP120-like protein, centrosome- and golgi-localized protein kinase N-associated protein, protein kinase A anchoring protein 9, A-kinase anchor protein, 350kDa, protein phosphatase 1, regulatory subunit 45, yotiao	604001			NA	9482789, 10390370, 24475373	Standard	NM_005751	NM_147185	NA	Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000356239.3:c.2412T>C	7.37:g.91631643T>C		NA	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	37	CCDS5622.1																																																																																			AKAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253808.2		+	ENST00000356239.3	Silent	SNP	7 : 91631643 - 91631643 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	511	105
PLK3	1263	broad.mit.edu	37	1	45270982	45270982	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45270982G>A	ENST00000372201.4	+	14	1919	c.1680G>A	c.(1678-1680)ccG>ccA	p.P560P	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	560						membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TACCTGCTCCGCCCTTGCTGC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	137	150			NA	NA	1		NA											NA				45270982		2203	4300	6503	SO:0001819	synonymous_variant			AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846	1263	1263			2154	protein-coding gene	gene with protein product		602913	cytokine-inducible kinase, polo-like kinase 3 (Drosophila)	CNK	NA	8702627	Standard	NM_004073	NM_004073	NA	Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1680G>A	1.37:g.45270982G>A		NA	Q15767|Q5JR99|Q96CV1	37	CCDS515.1																																																																																			PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000023429.1		+	ENST00000372201.4	Silent	SNP	1 : 45270982 - 45270982 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	417	41
NIN	51199	broad.mit.edu	37	14	51224357	51224357	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51224357G>A	ENST00000530997.2	-	16	3390	c.3391C>T	c.(3391-3393)Cga>Tga	p.R1131*	NIN_ENST00000453196.1_Nonsense_Mutation_p.R1131*|NIN_ENST00000389868.3_Intron|NIN_ENST00000324330.9_Nonsense_Mutation_p.R1131*|NIN_ENST00000245441.5_Nonsense_Mutation_p.R1131*|NIN_ENST00000382043.4_Intron|NIN_ENST00000382041.3_Nonsense_Mutation_p.R1131*			Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1131					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TGCTTCGTTCGGTTTTGCTGT	0.483		NA	T	PDGFRB	MPD									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0													156	147	150			NA	NA	14		NA											NA				51224357		2203	4300	6503	SO:0001587	stop_gained			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503	51199	51199		EF-hand domain containing	14906	protein-coding gene	gene with protein product		608684			NA	11004522, 11162463	Standard	NM_182946	NM_020921	NA	Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000530997.2:c.3391C>T	14.37:g.51224357G>A	ENSP00000436092:p.Arg1131*	NA	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.912985|6.912985	0.97932|0.97932	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853|ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	.|.	.|.	.|.	5.56|5.56	2.23|2.23	0.28157|0.28157	.|.	.|0.857809	.|0.10228	.|N	.|0.700090	T|.	0.24661|.	0.0598|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34354|.	-0.9832|.	3|.	.|0.11182	.|T	.|0.66	0.2394|0.2394	7.5752|7.5752	0.27931|0.27931	0.0905:0.0:0.4837:0.4258|0.0905:0.0:0.4837:0.4258	.|.	.|.	.|.	.|.	L|X	621|1131;1114;1137;1131;1131;1131	.|.	.|ENSP00000245441:R1131X	P|R	-|-	2|1	0|2	NIN|NIN	50294107|50294107	0.001000|0.001000	0.12720|0.12720	0.008000|0.008000	0.14137|0.14137	0.003000|0.003000	0.03518|0.03518	0.419000|0.419000	0.21247|0.21247	0.596000|0.596000	0.29794|0.29794	0.563000|0.563000	0.77884|0.77884	CCG|CGA	NIN-017	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000395210.2		-	ENST00000530997.2	Nonsense_Mutation	SNP	14 : 51224357 - 51224357 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1019	103
TMEM192	201931	broad.mit.edu	37	4	166021946	166021946	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:166021946T>G	ENST00000306480.6	-	3	418	c.273A>C	c.(271-273)aaA>aaC	p.K91N	TMEM192_ENST00000506087.1_Missense_Mutation_p.K87N	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN	transmembrane protein 192	NA						Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		CCGTCTGAACTTTCAATGGGT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	122	122			NA	NA	4		NA											NA				166021946		1859	4099	5958	SO:0001583	missense			BC036301	CCDS43279.1	4q32.3	2008-04-22			ENSG00000170088	ENSG00000170088	201931	201931			26775	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152681	NM_001100389	NA	Approved	FLJ38482	uc003iqz.4	Q8IY95	OTTHUMG00000161254	ENST00000306480.6:c.273A>C	4.37:g.166021946T>G	ENSP00000305069:p.Lys91Asn	NA	Q7Z3A1|Q8N928	37	CCDS43279.1	.	.	.	.	.	.	.	.	.	.	T	13.14	2.147221	0.37923	.	.	ENSG00000170088	ENST00000306480;ENST00000506087	.	.	.	5.31	-0.0997	0.13623	.	0.472269	0.27319	N	0.019914	T	0.41419	0.1158	L	0.57536	1.79	0.33843	D	0.631653	B	0.27351	0.176	B	0.21917	0.037	T	0.44772	-0.9306	9	0.22706	T	0.39	-1.2884	9.3717	0.38258	0.0:0.377:0.0:0.623	.	91	Q8IY95	TM192_HUMAN	N	91;87	.	ENSP00000305069:K91N	K	-	3	2	TMEM192	166241396	0.965000	0.33210	0.994000	0.49952	0.878000	0.50629	-0.079000	0.11357	0.116000	0.18110	0.402000	0.26972	AAA	TMEM192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364310.3		-	ENST00000306480.6	Missense_Mutation	SNP	4 : 166021946 - 166021946 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	440	76
ASTN1	460	broad.mit.edu	37	1	176992614	176992614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176992614C>T	ENST00000367657.3	-	7	1554	c.1364G>A	c.(1363-1365)aGc>aAc	p.S455N	ASTN1_ENST00000367654.3_Missense_Mutation_p.S455N|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.S455N|ASTN1_ENST00000424564.2_Missense_Mutation_p.S455N			O14525	ASTN1_HUMAN	astrotactin 1	455					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCAGGGTCCGCTGGAGTTCTG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	34	35			NA	NA	1		NA											NA				176992614		2203	4300	6503	SO:0001583	missense			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092	460	460			773	protein-coding gene	gene with protein product		600904	astrotactin	ASTN	NA	9070947	Standard	NM_004319	NM_001286164	NA	Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367657.3:c.1364G>A	1.37:g.176992614C>T	ENSP00000356629:p.Ser455Asn	NA	O60799|Q5W0V7|Q5W0V8	37		.	.	.	.	.	.	.	.	.	.	C	24.2	4.509064	0.85282	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.19806	2.12;2.53;2.53;2.12	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.21062	0.0507	L	0.29908	0.895	0.58432	D	0.999993	B;B;B	0.25667	0.131;0.05;0.05	B;B;B	0.24701	0.055;0.032;0.032	T	0.02539	-1.1144	10	0.66056	D	0.02	-19.3059	19.8914	0.96931	0.0:1.0:0.0:0.0	.	455;455;455	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	N	455	ENSP00000356629:S455N;ENSP00000354536:S455N;ENSP00000356626:S455N;ENSP00000395041:S455N	ENSP00000354536:S455N	S	-	2	0	ASTN1	175259237	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.766000	0.62279	2.813000	0.96785	0.655000	0.94253	AGC	ASTN1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000084823.1		-	ENST00000367657.3	Missense_Mutation	SNP	1 : 176992614 - 176992614 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	118	38
KARS	3735	broad.mit.edu	37	16	75663366	75663366	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75663366T>C	ENST00000319410.5	-	13	1703	c.1582A>G	c.(1582-1584)Act>Gct	p.T528A	KARS_ENST00000302445.3_Missense_Mutation_p.T500A|KARS_ENST00000568378.1_Intron	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	500					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	TTCAGCTCAGTATACGCATTG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													177	176	176			NA	NA	16		NA											NA				75663366		2198	4300	6498	SO:0001583	missense			AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	3735	3735	6.1.1.6	Aminoacyl tRNA synthetases / Class II	6215	protein-coding gene	gene with protein product	lysine tRNA ligase	601421	deafness, autosomal recessive 89	DFNB89	NA	8812440, 9278442, 23768514	Standard	NM_005548	NM_005548	NA	Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000319410.5:c.1582A>G	16.37:g.75663366T>C	ENSP00000325448:p.Thr528Ala	NA	A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	37	CCDS45532.1	.	.	.	.	.	.	.	.	.	.	T	33	5.227218	0.95173	.	.	ENSG00000065427	ENST00000319410;ENST00000302445	D;D	0.84442	-1.85;-1.85	5.81	5.81	0.92471	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.93831	0.8027	H	0.94771	3.58	0.80722	D	1	P;D	0.61080	0.928;0.989	P;P	0.62491	0.635;0.903	D	0.95310	0.8411	10	0.87932	D	0	-18.1764	15.0088	0.71533	0.0:0.0:0.0:1.0	.	528;500	Q15046-2;Q15046	.;SYK_HUMAN	A	528;500	ENSP00000325448:T528A;ENSP00000303043:T500A	ENSP00000303043:T500A	T	-	1	0	KARS	74220867	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.013000	0.88655	2.221000	0.72209	0.455000	0.32223	ACT	KARS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269024.1		-	ENST00000319410.5	Missense_Mutation	SNP	16 : 75663366 - 75663366 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1446	112
AKAP9	10142	broad.mit.edu	37	7	91632019	91632019	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91632019A>T	ENST00000356239.3	+	8	3021	c.2788A>T	c.(2788-2790)Atg>Ttg	p.M930L	AKAP9_ENST00000358100.2_Missense_Mutation_p.M942L|AKAP9_ENST00000359028.2_Missense_Mutation_p.M942L	NM_005751.4|NM_147185.2	NP_005742.4|NP_671714.1	Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	942	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AACATTGGAAATGGGTGAGGT	0.363		NA	T	BRAF	papillary thyroid									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													46	47	46			NA	NA	7		NA											NA				91632019		2202	4299	6501	SO:0001583	missense			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914	10142	10142		A-kinase anchor proteins, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	379	protein-coding gene	gene with protein product	A-kinase anchoring protein 450, AKAP9-BRAF fusion protein, AKAP120-like protein, centrosome- and golgi-localized protein kinase N-associated protein, protein kinase A anchoring protein 9, A-kinase anchor protein, 350kDa, protein phosphatase 1, regulatory subunit 45, yotiao	604001			NA	9482789, 10390370, 24475373	Standard	NM_005751	NM_147185	NA	Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000356239.3:c.2788A>T	7.37:g.91632019A>T	ENSP00000348573:p.Met930Leu	NA	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	37	CCDS5622.1	.	.	.	.	.	.	.	.	.	.	A	0.070	-1.204336	0.01568	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.02737	4.18;4.18;4.18	5.28	-3.65	0.04502	.	1.558810	0.04096	N	0.312104	T	0.01730	0.0055	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.47911	-0.9080	10	0.27082	T	0.32	.	6.3967	0.21616	0.2917:0.3727:0.3355:0.0	.	942;930;930;942	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	L	930;942;942;942;942	ENSP00000348573:M930L;ENSP00000351922:M942L;ENSP00000350813:M942L	ENSP00000348573:M930L	M	+	1	0	AKAP9	91469955	0.003000	0.15002	0.016000	0.15963	0.096000	0.18686	0.153000	0.16323	-0.530000	0.06349	-0.264000	0.10439	ATG	AKAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253808.2		+	ENST00000356239.3	Missense_Mutation	SNP	7 : 91632019 - 91632019 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	59
GRB14	2888	broad.mit.edu	37	2	165404219	165404219	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:165404219A>G	ENST00000263915.3	-	3	970	c.432T>C	c.(430-432)atT>atC	p.I144I	GRB14_ENST00000543549.1_Silent_p.I57I	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	144	Ras-associating.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TGTGGTCATCAATGTAATGAT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	93	97			NA	NA	2		NA											NA				165404219		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290	2888	2888		Pleckstrin homology (PH) domain containing, SH2 domain containing	4565	protein-coding gene	gene with protein product		601524			NA	8812444	Standard		XM_005246477	NA	Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.432T>C	2.37:g.165404219A>G		NA	Q7Z6I1	37	CCDS2222.1																																																																																			GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255180.2		-	ENST00000263915.3	Silent	SNP	2 : 165404219 - 165404219 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	333	54
PLIN4	729359	broad.mit.edu	37	19	4510724	4510724	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4510724C>A	ENST00000301286.3	-	3	3205	c.3206G>T	c.(3205-3207)aGc>aTc	p.S1069I		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1069						lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CTCTTGGGGGCTCAGGGCAGT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	36	34			NA	NA	19		NA											NA				4510724		2069	4199	6268	SO:0001583	missense			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676	729359	729359		Perilipins	29393	protein-coding gene	gene with protein product		613247	KIAA1881	KIAA1881	NA	11572484, 19638644	Standard	XM_170901	NM_001080400	NA	Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.3206G>T	19.37:g.4510724C>A	ENSP00000301286:p.Ser1069Ile	NA	A6NEI2	37	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	c	10.04	1.242739	0.22796	.	.	ENSG00000167676	ENST00000301286	T	0.03689	3.84	2.87	-5.75	0.02384	.	3.138250	0.01171	U	0.006873	T	0.01940	0.0061	N	0.14661	0.345	0.09310	N	1	P	0.35656	0.514	B	0.31016	0.123	T	0.33214	-0.9877	10	0.40728	T	0.16	-0.9643	1.0287	0.01533	0.145:0.1954:0.3066:0.353	.	1069	Q96Q06	PLIN4_HUMAN	I	1069	ENSP00000301286:S1069I	ENSP00000301286:S1069I	S	-	2	0	PLIN4	4461724	.	.	0.000000	0.03702	0.108000	0.19459	.	.	-1.121000	0.02949	0.424000	0.28305	AGC	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395095.1		-	ENST00000301286.3	Missense_Mutation	SNP	19 : 4510724 - 4510724 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	230	13
CDH2	1000	broad.mit.edu	37	18	25572675	25572675	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:25572675G>A	ENST00000399380.3	-	8	1231	c.1195C>T	c.(1195-1197)Cgg>Tgg	p.R399W	CDH2_ENST00000269141.3_Missense_Mutation_p.R430W			P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	430	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATGGCGAACCGTCCAGTAGGA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													207	161	177			NA	NA	18		NA											NA				25572675		2203	4300	6503	SO:0001583	missense			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558	1000	1000		CD molecules, Cadherins / Major cadherins	1759	protein-coding gene	gene with protein product	N-cadherin	114020		NCAD	NA	2384753, 7731968, 2216790	Standard	NM_001792	NM_001792	NA	Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000399380.3:c.1195C>T	18.37:g.25572675G>A	ENSP00000382312:p.Arg399Trp	NA	B0YIY6|Q14923|Q8N173	37		.	.	.	.	.	.	.	.	.	.	G	14.81	2.646380	0.47258	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.50813	0.73;0.73	5.39	4.5	0.54988	Cadherin (4);Cadherin-like (1);	0.162822	0.52532	D	0.000075	T	0.60702	0.2289	L	0.43598	1.365	0.40622	D	0.981774	D;D	0.89917	1.0;1.0	D;D	0.79108	0.984;0.992	T	0.62978	-0.6739	10	0.48119	T	0.1	.	15.3486	0.74363	0.0:0.0:0.8551:0.1449	.	399;430	A8MWK3;P19022	.;CADH2_HUMAN	W	430;399	ENSP00000269141:R430W;ENSP00000382312:R399W	ENSP00000269141:R430W	R	-	1	2	CDH2	23826673	0.880000	0.30214	0.071000	0.20095	0.146000	0.21551	3.612000	0.54142	1.334000	0.45468	0.655000	0.94253	CGG	CDH2-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000139363.3		-	ENST00000399380.3	Missense_Mutation	SNP	18 : 25572675 - 25572675 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	335	60
LRRC8D	55144	broad.mit.edu	37	1	90399638	90399638	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90399638C>T	ENST00000337338.5	+	3	1418	c.1011C>T	c.(1009-1011)caC>caT	p.H337H	LRRC8D_ENST00000394593.3_Silent_p.H337H	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	337						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GCTTTGAACACGTCTGCAAGC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	93	93			NA	NA	1		NA											NA				90399638		2203	4299	6502	SO:0001819	synonymous_variant			AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492	55144	55144			16992	protein-coding gene	gene with protein product		612890	leucine rich repeat containing 5	LRRC5	NA		Standard	NM_018103	NM_018103	NA	Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.1011C>T	1.37:g.90399638C>T		NA	D3DT29|Q6UWB2|Q9NVW3	37	CCDS726.1																																																																																			LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029203.2		+	ENST00000337338.5	Silent	SNP	1 : 90399638 - 90399638 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	640	109
DRP2	1821	broad.mit.edu	37	X	100503249	100503249	+	Missense_Mutation	SNP	G	G	A	rs6621017		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100503249G>A	ENST00000395209.3	+	13	1951	c.1424G>A	c.(1423-1425)aGc>aAc	p.S475N	DRP2_ENST00000538510.1_Missense_Mutation_p.S475N|DRP2_ENST00000402866.1_Missense_Mutation_p.S475N|DRP2_ENST00000541709.1_Missense_Mutation_p.S397N	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	475					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GTGGACATGAGCCTCAATTGG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													185	154	164			NA	NA	X		NA											NA				100503249		2203	4300	6503	SO:0001583	missense			U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385	1821	1821			3032	protein-coding gene	gene with protein product		300052			NA	8640231	Standard	NM_001939	NM_001939	NA	Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.1424G>A	X.37:g.100503249G>A	ENSP00000378635:p.Ser475Asn	NA	A6ZKI5|A8K1B0|B1B1F3	37	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870939	0.51695	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.17	3.23	0.37069	EF-hand domain, type 1 (1);	0.134549	0.64402	D	0.000001	T	0.49218	0.1544	N	0.14661	0.345	0.31643	N	0.647767	B	0.33413	0.411	B	0.37731	0.257	T	0.61436	-0.7063	10	0.87932	D	0	-8.3967	14.8724	0.70468	0.0:0.5098:0.4902:0.0	rs6621017;rs52814268;rs6621017	475	Q13474	DRP2_HUMAN	N	475;475;397;475	ENSP00000385038:S475N;ENSP00000378635:S475N;ENSP00000444752:S397N;ENSP00000441051:S475N	ENSP00000378635:S475N	S	+	2	0	DRP2	100389905	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	3.897000	0.56273	0.942000	0.37525	0.513000	0.50165	AGC	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057522.3		+	ENST00000395209.3	Missense_Mutation	SNP	X : 100503249 - 100503249 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	547	198
ERO1LB	56605	broad.mit.edu	37	1	236389686	236389686	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236389686C>T	ENST00000354619.5	-	12	1136	c.935G>A	c.(934-936)cGa>cAa	p.R312Q		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	312					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			TGACAAAGCTCGAAGCTCAAT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	99	98			NA	NA	1		NA											NA				236389686		2203	4300	6503	SO:0001583	missense			AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619	56605	56605			14355	protein-coding gene	gene with protein product		615437			NA	10818100	Standard	NM_019891	NM_019891	NA	Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.935G>A	1.37:g.236389686C>T	ENSP00000346635:p.Arg312Gln	NA	Q5T1H4|Q8IZ11|Q9NR62	37	CCDS31064.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006348	0.93287	.	.	ENSG00000086619	ENST00000354619;ENST00000264181	T;T	0.53423	0.62;0.62	5.53	4.6	0.57074	.	0.060072	0.64402	D	0.000002	T	0.69869	0.3159	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.73344	-0.4012	10	0.54805	T	0.06	-11.3801	14.7999	0.69906	0.0:0.9294:0.0:0.0706	.	312	Q86YB8	ERO1B_HUMAN	Q	312;37	ENSP00000346635:R312Q;ENSP00000264181:R37Q	ENSP00000264181:R37Q	R	-	2	0	ERO1LB	234456309	1.000000	0.71417	0.683000	0.30040	0.994000	0.84299	5.753000	0.68736	2.609000	0.88269	0.579000	0.79373	CGA	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096371.1		-	ENST00000354619.5	Missense_Mutation	SNP	1 : 236389686 - 236389686 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	428	132
KIAA0895L	653319	broad.mit.edu	37	16	67214520	67214520	+	Translation_Start_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67214520C>A	ENST00000290881.7	-	0	920				KIAA0895L_ENST00000563902.1_De_novo_Start_OutOfFrame|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000561621.1_De_novo_Start_OutOfFrame			Q68EN5	K895L_HUMAN	KIAA0895-like	NA										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						CCATTCTGTCCTGGGGGTCAC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	22	21			NA	NA	16		NA											NA				67214520		1767	3659	5426					AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123	653319	653319			34408	protein-coding gene	gene with protein product					NA		Standard	NM_001040715	NM_001040715	NA	Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.-7G>T	16.37:g.67214520C>A		NA	A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	37	CCDS42177.1																																																																																			KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421193.4		-	ENST00000290881.7	De_novo_Start_OutOfFrame	SNP	16 : 67214520 - 67214520 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	204	49
TTC7A	57217	broad.mit.edu	37	2	47221507	47221507	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:47221507G>T	ENST00000319190.5	+	7	1223	c.855G>T	c.(853-855)aaG>aaT	p.K285N	TTC7A_ENST00000394850.2_Missense_Mutation_p.K285N|TTC7A_ENST00000263737.6_Intron|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_Missense_Mutation_p.K251N	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	285							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TGGCGGCCAAGCACCTGGCGG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	96	94			NA	NA	2		NA											NA				47221507		2203	4300	6503	SO:0001583	missense			AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724	57217	57217		Tetratricopeptide (TTC) repeat domain containing	19750	protein-coding gene	gene with protein product		609332	tetratricopeptide repeat domain 7	TTC7	NA	10574461	Standard	XM_372927	XM_005264439	NA	Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.855G>T	2.37:g.47221507G>T	ENSP00000316699:p.Lys285Asn	NA	Q6PIX4|Q8ND67|Q9BUS3	37	CCDS33193.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275418	0.59649	.	.	ENSG00000068724	ENST00000409245;ENST00000319190;ENST00000394850;ENST00000434093	T;T;T	0.32023	1.88;1.88;1.47	4.63	2.82	0.32997	.	0.346876	0.29205	N	0.012822	T	0.25082	0.0609	L	0.36672	1.1	0.80722	D	1	D;P;P;P;P	0.53619	0.961;0.57;0.835;0.651;0.696	B;B;B;B;B	0.43360	0.417;0.096;0.272;0.122;0.196	T	0.02975	-1.1087	10	0.72032	D	0.01	-23.2989	9.8632	0.41127	0.1717:0.0:0.8283:0.0	.	285;251;285;113;251	Q2T9J9;B3KPK7;Q9ULT0;Q6P0M3;G5E9G4	.;.;TTC7A_HUMAN;.;.	N	251;285;285;112	ENSP00000386307:K251N;ENSP00000316699:K285N;ENSP00000378320:K285N	ENSP00000316699:K285N	K	+	3	2	TTC7A	47075011	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	1.442000	0.35046	0.679000	0.31345	0.655000	0.94253	AAG	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329667.2		+	ENST00000319190.5	Missense_Mutation	SNP	2 : 47221507 - 47221507 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	934	33
POLQ	10721	broad.mit.edu	37	3	121256050	121256050	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121256050C>T	ENST00000264233.5	-	5	765	c.637G>A	c.(637-639)Gtg>Atg	p.V213M		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	213	Helicase ATP-binding.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TCCACAACCACCATTCCTAAA	0.363		NA						DNA polymerases (catalytic subunits)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(152;907 1925 26081 31236 36904)							NA				0													89	85	87			NA	NA	3		NA											NA				121256050		2203	4300	6503	SO:0001583	missense			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	10721	10721	2.7.7.7	DNA polymerases	9186	protein-coding gene	gene with protein product		604419			NA	10395804	Standard	NM_199420	NM_199420	NA	Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.637G>A	3.37:g.121256050C>T	ENSP00000264233:p.Val213Met	NA	O95160|Q6VMB5	37	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628850	0.67015	.	.	ENSG00000051341	ENST00000264233;ENST00000393672	T	0.18338	2.22	4.92	4.92	0.64577	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.180534	0.48286	D	0.000190	T	0.38295	0.1035	M	0.82132	2.575	0.47862	D	0.999533	D	0.55172	0.97	P	0.60415	0.874	T	0.18840	-1.0324	10	0.49607	T	0.09	.	11.5968	0.50979	0.0:0.9176:0.0:0.0824	.	213	O75417	DPOLQ_HUMAN	M	213;348	ENSP00000264233:V213M	ENSP00000264233:V213M	V	-	1	0	POLQ	122738740	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.514000	0.67043	2.259000	0.74868	0.462000	0.41574	GTG	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355097.1		-	ENST00000264233.5	Missense_Mutation	SNP	3 : 121256050 - 121256050 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	54
EML3	256364	broad.mit.edu	37	11	62373584	62373584	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62373584C>T	ENST00000394773.2	-	13	1914	c.1607G>A	c.(1606-1608)cGc>cAc	p.R536H	EML3_ENST00000278845.4_Missense_Mutation_p.R537H|EML3_ENST00000438258.1_5'UTR|EML3_ENST00000494176.2_Missense_Mutation_p.R508H|EML3_ENST00000529309.1_Missense_Mutation_p.R536H|EML3_ENST00000531557.1_Missense_Mutation_p.R319H	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	536						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TACCAGCCGGCGGTCCCGCCC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	57	52			NA	NA	11		NA											NA				62373584		2202	4299	6501	SO:0001583	missense			AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499	256364	256364		WD repeat domain containing	26666	protein-coding gene	gene with protein product					NA	15225882, 14744259	Standard	NM_153265	NM_153265	NA	Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.1607G>A	11.37:g.62373584C>T	ENSP00000378254:p.Arg536His	NA	Q6ZQW7|Q8NA55	37	CCDS8023.2	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463749	0.84425	.	.	ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000531557;ENST00000494176;ENST00000529309	T;T;T;T;T	0.31247	1.55;1.5;1.53;1.53;1.53	5.25	5.25	0.73442	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.60856	0.2301	M	0.86028	2.79	0.58432	D	0.999998	D;P;D;D;D	0.89917	0.97;0.949;0.973;1.0;1.0	P;B;P;D;D	0.87578	0.637;0.312;0.55;0.991;0.998	T	0.66881	-0.5811	10	0.66056	D	0.02	-26.1227	16.3399	0.83079	0.0:1.0:0.0:0.0	.	536;536;319;537;508	Q32P44-2;Q32P44;G3V195;B7WPE2;G3V1D0	.;EMAL3_HUMAN;.;.;.	H	536;537;319;508;536	ENSP00000378254:R536H;ENSP00000278845:R537H;ENSP00000433417:R319H;ENSP00000435064:R508H;ENSP00000434513:R536H	ENSP00000278845:R537H	R	-	2	0	EML3	62130160	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.086000	0.76885	2.450000	0.82876	0.467000	0.42956	CGC	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313432.1		-	ENST00000394773.2	Missense_Mutation	SNP	11 : 62373584 - 62373584 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1064	182
ZBTB11	27107	broad.mit.edu	37	3	101383834	101383834	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101383834C>T	ENST00000312938.4	-	4	2177	c.1597G>A	c.(1597-1599)Gcc>Acc	p.A533T		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TTGGGAACGGCTTTCCGTTTC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	150	152			NA	NA	3		NA											NA				101383834		2203	4300	6503	SO:0001583	missense			U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422	27107	27107		-, BTB/POZ domain containing, Zinc fingers, C2H2-type	16740	protein-coding gene	gene with protein product					NA		Standard	NM_014415	NM_014415	NA	Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.1597G>A	3.37:g.101383834C>T	ENSP00000326200:p.Ala533Thr	NA	Q2NKP9	37	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965285	0.34659	.	.	ENSG00000066422	ENST00000312938	T	0.11385	2.78	5.87	5.0	0.66597	.	0.316831	0.38663	N	0.001614	T	0.05914	0.0154	N	0.12182	0.205	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36163	-0.9759	10	0.30078	T	0.28	-2.5424	7.5694	0.27898	0.0:0.7063:0.1389:0.1548	.	533	O95625	ZBT11_HUMAN	T	533	ENSP00000326200:A533T	ENSP00000326200:A533T	A	-	1	0	ZBTB11	102866524	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	1.273000	0.33121	1.496000	0.48567	0.655000	0.94253	GCC	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353441.2		-	ENST00000312938.4	Missense_Mutation	SNP	3 : 101383834 - 101383834 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	773	143
ZNF790	388536	broad.mit.edu	37	19	37310733	37310733	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37310733T>C	ENST00000356725.4	-	5	633	c.513A>G	c.(511-513)gaA>gaG	p.E171E	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GTTCTTTAAATTCATTCAGTT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	108	108			NA	NA	19		NA											NA				37310733		2203	4300	6503	SO:0001819	synonymous_variant			BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863	388536	388536		Zinc fingers, C2H2-type, -	33114	protein-coding gene	gene with protein product					NA		Standard	NM_206894	NM_206894	NA	Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.513A>G	19.37:g.37310733T>C		NA		37	CCDS12496.1																																																																																			ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385341.2		-	ENST00000356725.4	Silent	SNP	19 : 37310733 - 37310733 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	561	114
MBNL2	10150	broad.mit.edu	37	13	97928576	97928576	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:97928576C>T	ENST00000345429.6	+	2	868	c.87C>T	c.(85-87)cgC>cgT	p.R29R	MBNL2_ENST00000343600.4_Silent_p.R29R|MBNL2_ENST00000397601.1_Silent_p.R29R|MBNL2_ENST00000376673.3_Silent_p.R29R|MBNL2_ENST00000445661.2_Silent_p.R29R	NM_144778.3	NP_659002.1	Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	29					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			CATGCTCACGCTCTGATGAAG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	139	143			NA	NA	13		NA											NA				97928576		2203	4300	6503	SO:0001819	synonymous_variant			AF061261	CCDS9483.1, CCDS9484.1	13q31.1	2013-01-18	2012-02-23		ENSG00000139793	ENSG00000139793	10150	10150		Zinc fingers, CCCH-type domain containing	16746	protein-coding gene	gene with protein product		607327	muscleblind-like 2 (Drosophila)		NA	11929853	Standard	NM_144778	NM_207304	NA	Approved	MBLL, MBLL39	uc001vmz.4	Q5VZF2	OTTHUMG00000017239	ENST00000345429.6:c.87C>T	13.37:g.97928576C>T		NA	Q3SXY5|Q58F19|Q8NEV3|Q8TD82	37	CCDS9484.1																																																																																			MBNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045525.1		+	ENST00000345429.6	Silent	SNP	13 : 97928576 - 97928576 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	712	105
ERC1	23085	broad.mit.edu	37	12	1250905	1250905	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1250905G>T	ENST00000536573.2	+	0	620				ERC1_ENST00000546231.2_Missense_Mutation_p.K563N|ERC1_ENST00000360905.4_Missense_Mutation_p.K563N|ERC1_ENST00000543086.3_Missense_Mutation_p.K535N|ERC1_ENST00000355446.5_Missense_Mutation_p.K563N|ERC1_ENST00000589028.1_Missense_Mutation_p.K563N|ERC1_ENST00000397203.2_Missense_Mutation_p.K563N			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	NA					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			ATGACCTCAAGGACATGTTGG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													215	153	174			NA	NA	12		NA											NA				1250905		2203	4300	6503	SO:0001624	3_prime_UTR_variant			AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805	23085	23085			17072	protein-coding gene	gene with protein product		607127	RAB6 interacting protein 2	RAB6IP2	NA	10697956, 11929610	Standard	NM_015064	NM_178040	NA	Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000536573.2:c.*617G>T	12.37:g.1250905G>T		NA	A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	37		.	.	.	.	.	.	.	.	.	.	G	16.83	3.231119	0.58777	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	T;T;T;T;T;T;T;T	0.79141	-1.24;-1.08;0.69;0.69;0.69;-1.08;-1.08;0.69	5.65	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.85035	0.5605	L	0.58428	1.81	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;1.0	D;D;D;D;D	0.97110	1.0;0.997;0.997;0.963;1.0	D	0.84186	0.0442	10	0.37606	T	0.19	-29.5886	14.3623	0.66782	0.0708:0.0:0.9292:0.0	.	311;203;535;535;563	F5H327;F5GZU8;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;.;RB6I2_HUMAN	N	535;563;535;535;263;535;535;263;563;563;563;535;311;203	ENSP00000340054:K535N;ENSP00000380386:K563N;ENSP00000438546:K535N;ENSP00000442976:K263N;ENSP00000442739:K563N;ENSP00000347621:K563N;ENSP00000354158:K563N;ENSP00000410064:K535N	ENSP00000299183:K263N	K	+	3	2	ERC1	1121166	1.000000	0.71417	1.000000	0.80357	0.327000	0.28475	2.356000	0.44116	1.380000	0.46344	0.655000	0.94253	AAG	ERC1-003	KNOWN	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000397934.4		+	ENST00000536573.2	3'UTR	SNP	12 : 1250905 - 1250905 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	187	34
VIT	5212	broad.mit.edu	37	2	36982186	36982186	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:36982186T>G	ENST00000404084.1	+	4	498	c.332T>G	c.(331-333)tTt>tGt	p.F111C	VIT_ENST00000401530.1_Missense_Mutation_p.F133C|VIT_ENST00000389975.3_Missense_Mutation_p.F133C|VIT_ENST00000457137.2_Missense_Mutation_p.F133C|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000379242.3_Missense_Mutation_p.F133C|VIT_ENST00000379241.3_Missense_Mutation_p.F133C			Q6UXI7	VITRN_HUMAN	vitrin	133	LCCL.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				AGAGAATCCTTTATCGTCTTA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	110	116			NA	NA	2		NA											NA				36982186		2203	4300	6503	SO:0001583	missense			AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221	5212	5212			12697	protein-coding gene	gene with protein product					NA		Standard		NM_001177969	NA	Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000404084.1:c.332T>G	2.37:g.36982186T>G	ENSP00000384154:p.Phe111Cys	NA	A6NKI9|A8K7Y4|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	37		.	.	.	.	.	.	.	.	.	.	T	19.38	3.815856	0.70912	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000402257;ENST00000457137;ENST00000404084;ENST00000379241;ENST00000401530	D;D;D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81;-2.81;-2.81	5.63	5.63	0.86233	LCCL (4);	0.000000	0.85682	D	0.000000	D	0.96256	0.8779	M	0.91140	3.18	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.983;0.971;0.989;0.989;0.999	D	0.97115	0.9807	10	0.87932	D	0	-22.4825	15.5314	0.75964	0.0:0.0:0.0:1.0	.	133;133;133;133;133;133	B4DRU4;E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4;Q6UXI7-3	.;.;.;VITRN_HUMAN;.;.	C	133;133;133;133;111;133;133	ENSP00000368544:F133C;ENSP00000374625:F133C;ENSP00000393561:F133C;ENSP00000384154:F111C;ENSP00000368543:F133C;ENSP00000385658:F133C	ENSP00000368543:F133C	F	+	2	0	VIT	36835690	1.000000	0.71417	0.905000	0.35620	0.637000	0.38172	6.394000	0.73223	2.145000	0.66743	0.533000	0.62120	TTT	VIT-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000325453.1		+	ENST00000404084.1	Missense_Mutation	SNP	2 : 36982186 - 36982186 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	51
CSMD3	114788	broad.mit.edu	37	8	113317044	113317044	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113317044G>T	ENST00000297405.5	-	52	8416	c.8172C>A	c.(8170-8172)agC>agA	p.S2724R	CSMD3_ENST00000343508.3_Missense_Mutation_p.S2684R|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2654R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2724	Sushi 16.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAGGGTCACAGCTGAAAACTA	0.408		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	107	113			NA	NA	8		NA											NA				113317044		2203	4300	6503	SO:0001583	missense			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796	114788	114788			19291	protein-coding gene	gene with protein product		608399			NA		Standard	NM_052900	NM_052900	NA	Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8172C>A	8.37:g.113317044G>T	ENSP00000297405:p.Ser2724Arg	NA	Q96PZ3	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.158734	0.38119	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000352409	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.04	1.25	0.21368	Complement control module (2);Sushi/SCR/CCP (3);	0.071935	0.56097	D	0.000029	T	0.48978	0.1530	L	0.28504	0.86	0.42354	D	0.992383	B;P	0.44877	0.428;0.845	B;P	0.44860	0.309;0.462	T	0.30679	-0.9970	10	0.28530	T	0.3	.	9.3541	0.38155	0.3569:0.0:0.6431:0.0	.	2724;2684	Q7Z407;Q7Z407-2	CSMD3_HUMAN;.	R	2684;2724;1994;2654	ENSP00000345799:S2684R;ENSP00000297405:S2724R;ENSP00000341558:S1994R;ENSP00000343124:S2654R	ENSP00000297405:S2724R	S	-	3	2	CSMD3	113386220	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	2.787000	0.47798	-0.000000	0.14550	-0.150000	0.13652	AGC	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347141.1		-	ENST00000297405.5	Missense_Mutation	SNP	8 : 113317044 - 113317044 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	48
SGPL1	8879	broad.mit.edu	37	10	72631635	72631635	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:72631635T>C	ENST00000373202.3	+	11	1151	c.951T>C	c.(949-951)tgT>tgC	p.C317C		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	317					apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity			large_intestine(4)	4					Pyridoxal Phosphate(DB00114)	TCGACGCTTGTCTGGGAGGCT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(151;1054 2458 6676 40971)							NA				0													146	136	139			NA	NA	10		NA											NA				72631635		2203	4300	6503	SO:0001819	synonymous_variant			AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224	8879	8879			10817	protein-coding gene	gene with protein product		603729			NA	9464245, 17090686	Standard	NM_003901	NM_003901	NA	Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.951T>C	10.37:g.72631635T>C		NA	B2RBD4|Q7Z732|Q9ULG8|Q9UN89	37	CCDS31216.1																																																																																			SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048533.1		+	ENST00000373202.3	Silent	SNP	10 : 72631635 - 72631635 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	786	149
SLC26A7	115111	broad.mit.edu	37	8	92350382	92350382	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:92350382T>G	ENST00000276609.3	+	7	1039	c.800T>G	c.(799-801)aTt>aGt	p.I267S	SLC26A7_ENST00000523719.1_Missense_Mutation_p.I267S|SLC26A7_ENST00000309536.2_Missense_Mutation_p.I267S	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	267						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			ACACAGATTATTGCTGCATCA	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	96	98			NA	NA	8		NA											NA				92350382		2203	4297	6500	SO:0001583	missense			AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606	115111	115111		Solute carriers	14467	protein-coding gene	gene with protein product		608479	solute carrier family 26, member 7		NA	11834742, 11829495, 16524946	Standard		NM_134266	NA	Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.800T>G	8.37:g.92350382T>G	ENSP00000276609:p.Ile267Ser	NA	Q24JS8|Q8TE53|Q96RN2	37	CCDS6254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.10|15.10	2.734097|2.734097	0.48939|0.48939	.|.	.|.	ENSG00000147606|ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536|ENST00000520818	D;D;D|.	0.94613|.	-3.47;-3.47;-3.47|.	5.79|5.79	5.79|5.79	0.91817|0.91817	Sulphate transporter (1);|.	0.138507|.	0.50627|.	D|.	0.000115|.	T|T	0.70945|0.70945	0.3282|0.3282	L|L	0.58669|0.58669	1.825|1.825	0.44523|0.44523	D|D	0.997476|0.997476	B;B|.	0.19583|.	0.037;0.018|.	B;B|.	0.18263|.	0.012;0.021|.	T|T	0.69296|0.69296	-0.5182|-0.5182	10|5	0.87932|.	D|.	0|.	.|.	16.1388|16.1388	0.81509|0.81509	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	267;267|.	Q8TE54-2;Q8TE54|.	.;S26A7_HUMAN|.	S|V	267|135	ENSP00000428849:I267S;ENSP00000276609:I267S;ENSP00000309504:I267S|.	ENSP00000276609:I267S|.	I|L	+|+	2|1	0|2	SLC26A7|SLC26A7	92419558|92419558	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.140000|5.140000	0.64807|0.64807	2.205000|2.205000	0.71048|0.71048	0.528000|0.528000	0.53228|0.53228	ATT|TTG	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377011.1		+	ENST00000276609.3	Missense_Mutation	SNP	8 : 92350382 - 92350382 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	351	67
ABI1	10006	broad.mit.edu	37	10	27149786	27149786	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27149786C>T	ENST00000376142.2	-	1	78	c.7G>A	c.(7-9)Gag>Aag	p.E3K	ABI1_ENST00000376140.3_Missense_Mutation_p.E3K|ABI1_ENST00000359188.4_Missense_Mutation_p.E3K|ABI1_ENST00000376138.3_Missense_Mutation_p.E3K|ABI1_ENST00000376170.4_Missense_Mutation_p.E3K|ABI1_ENST00000376134.3_Missense_Mutation_p.E3K|ABI1_ENST00000376166.1_Missense_Mutation_p.E3K|ABI1_ENST00000346832.5_Missense_Mutation_p.E3K|ABI1_ENST00000355394.4_Missense_Mutation_p.E3K|ABI1_ENST00000376160.1_Missense_Mutation_p.E3K|ABI1_ENST00000376137.4_Missense_Mutation_p.E3K|ABI1_ENST00000376139.2_Missense_Mutation_p.E3K|ABI1_ENST00000490841.2_Missense_Mutation_p.E3K|ABI1_ENST00000536334.1_Missense_Mutation_p.E3K	NM_005470.3	NP_005461.2	Q8IZP0	ABI1_HUMAN	abl-interactor 1	3					actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATCTGCAGCTCTGCCATTTTC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	119	133			NA	NA	10		NA											NA				27149786		2203	4300	6503	SO:0001583	missense			U87166	CCDS7150.1, CCDS31169.1, CCDS31170.1, CCDS31171.1, CCDS53497.1, CCDS53498.1, CCDS53499.1, CCDS53500.1, CCDS53501.1, CCDS73077.1, CCDS73078.1	10p12.1	2009-05-29	2004-03-17	2004-03-19	ENSG00000136754	ENSG00000136754	10006	10006			11320	protein-coding gene	gene with protein product		603050	spectrin SH3 domain binding protein 1	SSH3BP1	NA	9593709, 9010225	Standard	NM_005470	NM_005470	NA	Approved	E3B1, ABI-1	uc001isx.3	Q8IZP0	OTTHUMG00000017848	ENST00000376142.2:c.7G>A	10.37:g.27149786C>T	ENSP00000365312:p.Glu3Lys	NA	A9Z1Y6|O15147|O76049|O95060|Q5T2R3|Q5T2R4|Q5T2R6|Q5T2R7|Q5W070|Q5W072|Q8TB63|Q96S81|Q9NXZ9|Q9NYB8	37	CCDS7150.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416588	0.83449	.	.	ENSG00000136754	ENST00000376138;ENST00000376170;ENST00000376166;ENST00000376160;ENST00000376142;ENST00000359188;ENST00000376139;ENST00000355394;ENST00000346832;ENST00000376134;ENST00000376137;ENST00000536334;ENST00000490841;ENST00000376140	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.92381	0.7582	M	0.81942	2.565	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;B;B	0.23891	0.031;0.001;0.093;0.008;0.009;0.008;0.029;0.01;0.01;0.017;0.017;0.022	B;B;B;B;B;B;B;B;B;B;B;B	0.23150	0.007;0.007;0.035;0.012;0.013;0.003;0.044;0.006;0.016;0.024;0.024;0.011	D	0.91037	0.4868	10	0.72032	D	0.01	-8.868	17.3129	0.87214	0.0:1.0:0.0:0.0	.	3;3;3;3;3;28;3;3;3;3;3;3	B6VEX4;B6VEX3;B4DQ58;Q8IZP0-10;Q5T2R9;Q59G41;Q8IZP0-6;B3KX62;Q8IZP0-3;Q8IZP0-5;Q8IZP0-9;Q8IZP0	.;.;.;.;.;.;.;.;.;.;.;ABI1_HUMAN	K	3	ENSP00000365308:E3K;ENSP00000365340:E3K;ENSP00000365336:E3K;ENSP00000365330:E3K;ENSP00000365312:E3K;ENSP00000352114:E3K;ENSP00000365309:E3K;ENSP00000347555:E3K;ENSP00000279599:E3K;ENSP00000365304:E3K;ENSP00000365307:E3K;ENSP00000439646:E3K;ENSP00000440101:E3K;ENSP00000365310:E3K	ENSP00000279599:E3K	E	-	1	0	ABI1	27189792	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.100000	0.76989	2.496000	0.84212	0.563000	0.77884	GAG	ABI1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047287.1		-	ENST00000376142.2	Missense_Mutation	SNP	10 : 27149786 - 27149786 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	14
MED10	84246	broad.mit.edu	37	5	6378502	6378502	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:6378502C>T	ENST00000255764.3	-	1	205	c.95G>A	c.(94-96)aGc>aAc	p.S32N		NM_032286.2	NP_115662.2	Q9BTT4	MED10_HUMAN	mediator complex subunit 10	32					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						GGCCTGGCTGCTGGGCTGGAA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	57	59			NA	NA	5		NA											NA				6378502		2203	4300	6503	SO:0001583	missense				CCDS34134.1	5p15.31	2008-02-05	2007-07-30		ENSG00000133398	ENSG00000133398	84246	84246			28760	protein-coding gene	gene with protein product	NUT2 homolog (S. cerevisiae)	612382	mediator of RNA polymerase II transcription, subunit 10 homolog (NUT2, S. cerevisiae)		NA	15657623, 15175163	Standard	NM_032286	NM_032286	NA	Approved	TRG20, L6, MGC5309, NUT2	uc003jdo.3	Q9BTT4	OTTHUMG00000161682	ENST00000255764.3:c.95G>A	5.37:g.6378502C>T	ENSP00000255764:p.Ser32Asn	NA	C6G491	37	CCDS34134.1	.	.	.	.	.	.	.	.	.	.	C	34	5.299068	0.95574	.	.	ENSG00000133398	ENST00000255764	.	.	.	5.11	5.11	0.69529	.	0.035738	0.85682	D	0.000000	T	0.42291	0.1196	L	0.31207	0.915	0.80722	D	1	P	0.47841	0.901	B	0.41374	0.355	T	0.24835	-1.0149	9	0.19147	T	0.46	-17.8345	17.5168	0.87776	0.0:1.0:0.0:0.0	.	32	Q9BTT4	MED10_HUMAN	N	32	.	ENSP00000255764:S32N	S	-	2	0	MED10	6431502	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.867000	0.75511	2.389000	0.81357	0.484000	0.47621	AGC	MED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365714.1		-	ENST00000255764.3	Missense_Mutation	SNP	5 : 6378502 - 6378502 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	154	35
RPS6KA4	8986	broad.mit.edu	37	11	64132779	64132779	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64132779G>A	ENST00000528057.1	+	9	1001	c.913G>A	c.(913-915)Gat>Aat	p.D305N	RPS6KA4_ENST00000294261.4_Missense_Mutation_p.D305N|RPS6KA4_ENST00000334205.4_Missense_Mutation_p.D305N	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	305	AGC-kinase C-terminal.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						TCAGGGCCTCGATTGGGTGGC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	62	62			NA	NA	11		NA											NA				64132779		2201	4297	6498	SO:0001583	missense			AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302	8986	8986			10433	protein-coding gene	gene with protein product		603606	ribosomal protein S6 kinase, 90kD, polypeptide 4		NA	9792677, 9687510	Standard	NM_003942	XM_005274379	NA	Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000528057.1:c.913G>A	11.37:g.64132779G>A	ENSP00000435580:p.Asp305Asn	NA	A8K7Z8|O75585|Q53ES8	37		.	.	.	.	.	.	.	.	.	.	g	5.355	0.250875	0.10130	.	.	ENSG00000162302	ENST00000528057;ENST00000334205;ENST00000294261;ENST00000530504	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.05	5.05	0.67936	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.052494	0.64402	D	0.000001	T	0.39332	0.1074	N	0.17474	0.49	0.41103	D	0.985687	B;B;B;B	0.25169	0.037;0.119;0.045;0.037	B;B;B;B	0.15484	0.011;0.008;0.008;0.013	T	0.28073	-1.0055	10	0.12430	T	0.62	.	15.8721	0.79129	0.0:0.0:1.0:0.0	.	305;305;305;305	G3XAA9;E9PJN1;O75676;O75676-2	.;.;KS6A4_HUMAN;.	N	305;305;305;289	ENSP00000435580:D305N;ENSP00000333896:D305N;ENSP00000294261:D305N;ENSP00000432945:D289N	ENSP00000294261:D305N	D	+	1	0	RPS6KA4	63889355	1.000000	0.71417	0.984000	0.44739	0.049000	0.14656	5.253000	0.65452	2.363000	0.80096	0.471000	0.43371	GAT	RPS6KA4-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000385364.1		+	ENST00000528057.1	Missense_Mutation	SNP	11 : 64132779 - 64132779 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	342	55
PRKAR2B	5577	broad.mit.edu	37	7	106762403	106762403	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:106762403C>T	ENST00000265717.4	+	3	609	c.350C>T	c.(349-351)gCa>gTa	p.A117V	PRKAR2B_ENST00000393613.2_3'UTR|CTA-360L10.1_ENST00000494849.1_RNA	NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	117	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						ATAGTATGTGCAGAAGCTTAT	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	120	120			NA	NA	7		NA											NA				106762403		2203	4299	6502	SO:0001583	missense				CCDS5740.1	7q22.3	2010-04-22			ENSG00000005249	ENSG00000005249	5577	5577	2.7.11.1		9392	protein-coding gene	gene with protein product		176912		PRKAR2	NA	1358799	Standard		NM_002736	NA	Approved		uc003vdx.3	P31323	OTTHUMG00000137418	ENST00000265717.4:c.350C>T	7.37:g.106762403C>T	ENSP00000265717:p.Ala117Val	NA	A4D0R9	37	CCDS5740.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507675	0.85282	.	.	ENSG00000005249	ENST00000265717;ENST00000543645;ENST00000539794	D	0.84442	-1.85	5.25	5.25	0.73442	.	0.050938	0.85682	D	0.000000	D	0.90913	0.7144	M	0.77616	2.38	0.49130	D	0.999756	D	0.76494	0.999	P	0.59115	0.852	D	0.91996	0.5607	10	0.87932	D	0	-21.0737	16.1148	0.81301	0.0:1.0:0.0:0.0	.	117	P31323	KAP3_HUMAN	V	117;117;104	ENSP00000265717:A117V	ENSP00000265717:A117V	A	+	2	0	PRKAR2B	106549639	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.620000	0.67736	2.608000	0.88229	0.655000	0.94253	GCA	PRKAR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268386.1		+	ENST00000265717.4	Missense_Mutation	SNP	7 : 106762403 - 106762403 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	245	36
IFT46	56912	broad.mit.edu	37	11	118425964	118425964	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118425964T>G	ENST00000264020.2	-	6	789	c.412A>C	c.(412-414)Agg>Cgg	p.R138R	IFT46_ENST00000264021.3_Splice_Site_p.R87R|IFT46_ENST00000530872.1_Splice_Site_p.R138R	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	87					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						AGTACTCACCTACTGATGTAC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	106	107			NA	NA	11		NA											NA				118425964		2200	4295	6495	SO:0001630	splice_region_variant			AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096	56912	56912		Intraflagellar transport homologs	26146	protein-coding gene	gene with protein product	cilia and flagella associated protein 32		chromosome 11 open reading frame 60, intraflagellar transport 46 homolog (Chlamydomonas)	C11orf60	NA	10873569, 19253336	Standard	NM_020153	NM_020153	NA	Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264020.2:c.413+1A>C	11.37:g.118425964T>G		NA	A8K0F6|Q9H6V5	37	CCDS8399.1																																																																																			IFT46-013	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389628.1	Silent	-	ENST00000264020.2	Splice_Site	SNP	11 : 118425964 - 118425964 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	403	71
USP2	9099	broad.mit.edu	37	11	119244150	119244150	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119244150G>A	ENST00000260187.2	-	2	335	c.41C>T	c.(40-42)tCg>tTg	p.S14L	RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	14	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		GTAGCGGGCCGATTCTGTGTA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	31	36			NA	NA	11		NA											NA				119244150		2196	4292	6488	SO:0001583	missense			AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672	9099	9099		Ubiquitin-specific peptidases	12618	protein-coding gene	gene with protein product		604725	ubiquitin specific protease 2		NA	12838346	Standard	NM_171997	NM_004205	NA	Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.41C>T	11.37:g.119244150G>A	ENSP00000260187:p.Ser14Leu	NA	B0YJB8|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	37	CCDS8422.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.817379	0.70912	.	.	ENSG00000036672	ENST00000260187;ENST00000531070;ENST00000527843	T	0.24350	1.86	5.37	4.45	0.53987	.	0.165377	0.40064	N	0.001193	T	0.13457	0.0326	L	0.29908	0.895	0.80722	D	1	P	0.48998	0.918	B	0.26864	0.074	T	0.05321	-1.0892	10	0.72032	D	0.01	-1.859	10.842	0.46722	0.0865:0.0:0.9135:0.0	.	14	O75604	UBP2_HUMAN	L	14	ENSP00000260187:S14L	ENSP00000260187:S14L	S	-	2	0	USP2	118749360	1.000000	0.71417	0.883000	0.34634	0.990000	0.78478	5.241000	0.65384	2.507000	0.84556	0.561000	0.74099	TCG	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388361.2		-	ENST00000260187.2	Missense_Mutation	SNP	11 : 119244150 - 119244150 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	40
CD1A	909	broad.mit.edu	37	1	158225026	158225026	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158225026T>C	ENST00000289429.5	+	2	744	c.211T>C	c.(211-213)Tcc>Ccc	p.S71P		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	71				WS -> V (in Ref. 7; AAA51933).	antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GTGCCCCTGGTCCAGGGGAAA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	101	103			NA	NA	1		NA											NA				158225026		2203	4300	6503	SO:0001583	missense			M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477	909	909		CD molecules, Immunoglobulin superfamily / C1-set domain containing	1634	protein-coding gene	gene with protein product		188370	CD1A antigen, a polypeptide, CD1a antigen	CD1	NA	2447586, 2784820	Standard	NM_001763	NM_001763	NA	Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.211T>C	1.37:g.158225026T>C	ENSP00000289429:p.Ser71Pro	NA	D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	37	CCDS1174.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.327550	0.41197	.	.	ENSG00000158477	ENST00000289429	T	0.00724	5.78	4.54	3.38	0.38709	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.218281	0.23492	N	0.047600	T	0.01940	0.0061	M	0.87097	2.86	0.26685	N	0.971464	D	0.89917	1.0	D	0.83275	0.996	T	0.29971	-0.9994	10	0.87932	D	0	-18.9009	7.5545	0.27817	0.0:0.0:0.2395:0.7605	.	71	P06126	CD1A_HUMAN	P	71	ENSP00000289429:S71P	ENSP00000289429:S71P	S	+	1	0	CD1A	156491650	0.922000	0.31269	0.984000	0.44739	0.074000	0.17049	0.422000	0.21296	1.911000	0.55334	0.477000	0.44152	TCC	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046349.2		+	ENST00000289429.5	Missense_Mutation	SNP	1 : 158225026 - 158225026 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	408	99
ASH1L	55870	broad.mit.edu	37	1	155451439	155451439	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155451439G>A	ENST00000368346.3	-	3	1861	c.1222C>T	c.(1222-1224)Cta>Tta	p.L408L	ASH1L_ENST00000548830.1_3'UTR|ASH1L_ENST00000392403.3_Silent_p.L408L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	408					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CAACTCATTAGTTTCTTTCCA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	111	112			NA	NA	1		NA											NA				155451439		2203	4300	6503	SO:0001819	synonymous_variant			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539	55870	55870		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	19088	protein-coding gene	gene with protein product		607999			NA	10860993, 16545939	Standard	NM_018489	NM_018489	NA	Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.1222C>T	1.37:g.155451439G>A		NA	Q59GP1|Q5T714|Q5T715|Q9P2C7	37																																																																																				ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000039400.1		-	ENST00000368346.3	Silent	SNP	1 : 155451439 - 155451439 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	707	207
LRP1	4035	broad.mit.edu	37	12	57587714	57587714	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57587714C>T	ENST00000243077.3	+	48	8303	c.7837C>T	c.(7837-7839)Cgg>Tgg	p.R2613W		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2613	LDL-receptor class A 13.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTTCCGCTGCCGGGACGGGAC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TRP/ARG	0,4406		0,0,2203	97	89	92		7837	4.2	1	12		92	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRP1	NM_002332.2	101	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	2613/4545	57587714	1,13005	2203	4300	6503	SO:0001583	missense			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384	4035	4035		CD molecules, Low density lipoprotein receptors	6692	protein-coding gene	gene with protein product		107770	alpha-2-macroglobulin receptor	APR, A2MR	NA	2548950	Standard	NM_002332	NM_002332	NA	Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.7837C>T	12.37:g.57587714C>T	ENSP00000243077:p.Arg2613Trp	NA	Q2PP12|Q8IVG8	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803636	0.50315	0.0	1.16E-4	ENSG00000123384	ENST00000243077	D	0.95690	-3.78	5.09	4.19	0.49359	.	0.164278	0.37261	N	0.002175	D	0.96617	0.8896	M	0.62088	1.915	0.80722	D	1	D	0.76494	0.999	D	0.63283	0.913	D	0.96868	0.9637	10	0.66056	D	0.02	.	14.7368	0.69422	0.0:0.8543:0.1457:0.0	.	2613	Q07954	LRP1_HUMAN	W	2613	ENSP00000243077:R2613W	ENSP00000243077:R2613W	R	+	1	2	LRP1	55873981	1.000000	0.71417	1.000000	0.80357	0.515000	0.34225	1.355000	0.34068	1.368000	0.46115	0.650000	0.86243	CGG	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412772.2		+	ENST00000243077.3	Missense_Mutation	SNP	12 : 57587714 - 57587714 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	60
PRSS16	10279	broad.mit.edu	37	6	27222471	27222471	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27222471G>T	ENST00000230582.3	+	10	1165		c.e10-1		PRSS16_ENST00000421826.2_Splice_Site|PRSS16_ENST00000377456.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	NA					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCCCTACACAGATGTCACCTG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(178;1118 2105 17078 23587 44429)							NA				0													115	108	110			NA	NA	6		NA											NA				27222471		2203	4300	6503	SO:0001630	splice_region_variant			AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812	10279	10279		Serine peptidases / Serine peptidases	9480	protein-coding gene	gene with protein product		607169			NA	10527559	Standard		NM_005865	NA	Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.1151-1G>T	6.37:g.27222471G>T		NA	O75416	37	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378242	0.61735	.	.	ENSG00000112812	ENST00000421826;ENST00000230582;ENST00000485993;ENST00000475106	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.307	0.60357	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRSS16	27330450	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.274000	0.58921	2.607000	0.88179	0.557000	0.71058	.	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043418.2	Intron	+	ENST00000230582.3	Splice_Site	SNP	6 : 27222471 - 27222471 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	710	116
PHF12	57649	broad.mit.edu	37	17	27233281	27233281	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27233281G>T	ENST00000332830.4	-	15	3745	c.2935C>A	c.(2935-2937)Ctg>Atg	p.L979M	PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1	Q96QT6	PHF12_HUMAN	PHD finger protein 12	979					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CCATCCTGCAGCAGGCTGGCA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	56	54			NA	NA	17		NA											NA				27233281		2203	4300	6503	SO:0001583	missense			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118	57649	57649		Zinc fingers, PHD-type	20816	protein-coding gene	gene with protein product					NA	11390640	Standard	NM_020889	XM_005258015	NA	Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.2935C>A	17.37:g.27233281G>T	ENSP00000329933:p.Leu979Met	NA	Q0VAI5|Q6ZML2|Q9BV34|Q9H7U9|Q9P205	37	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	g	11.02	1.517194	0.27123	.	.	ENSG00000109118	ENST00000332830	D	0.94723	-3.5	5.28	2.04	0.26737	.	0.360301	0.26383	N	0.024681	D	0.88429	0.6434	L	0.40543	1.245	0.80722	D	1	P;P	0.41041	0.736;0.736	B;B	0.36186	0.219;0.219	D	0.84023	0.0355	10	0.51188	T	0.08	-6.6244	5.9949	0.19489	0.1811:0.2947:0.5242:0.0	.	961;979	B4DFE2;Q96QT6	.;PHF12_HUMAN	M	979	ENSP00000329933:L979M	ENSP00000329933:L979M	L	-	1	2	PHF12	24257407	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	2.876000	0.48498	0.631000	0.30412	0.651000	0.88453	CTG	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255941.1		-	ENST00000332830.4	Missense_Mutation	SNP	17 : 27233281 - 27233281 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	280	53
MAGEC1	9947	broad.mit.edu	37	X	140995885	140995885	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140995885G>T	ENST00000285879.4	+	4	2981	c.2695G>T	c.(2695-2697)Gag>Tag	p.E899*	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	899							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GTCCTTGATAGAGAGCGAGCC	0.478		NA								HNSCC(15;0.026)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	173	172			NA	NA	X		NA											NA				140995885		2203	4300	6503	SO:0001587	stop_gained			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495	9947	9947			6812	protein-coding gene	gene with protein product	cancer/testis antigen family 7, member 1	300223			NA	9485030, 9618514	Standard	NM_005462	NM_005462	NA	Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2695G>T	X.37:g.140995885G>T	ENSP00000285879:p.Glu899*	NA	O75451|Q8TCV4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	37	6.161445	0.97338	.	.	ENSG00000155495	ENST00000285879	.	.	.	1.38	0.437	0.16555	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	3.3967	0.07308	0.2958:0.0:0.7042:0.0	.	.	.	.	X	899	.	ENSP00000285879:E899X	E	+	1	0	MAGEC1	140823551	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.199000	0.17237	0.084000	0.17077	0.279000	0.19357	GAG	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058604.1		+	ENST00000285879.4	Nonsense_Mutation	SNP	X : 140995885 - 140995885 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1047	250
CDC42BPG	55561	broad.mit.edu	37	11	64594559	64594559	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64594559G>T	ENST00000342711.5	-	34	4351	c.4352C>A	c.(4351-4353)cCt>cAt	p.P1451H		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1451					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CCCGTTGGCAGGGCCCACGTG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	90	92			NA	NA	11		NA											NA				64594559		2201	4297	6498	SO:0001583	missense			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219	55561	55561		Pleckstrin homology (PH) domain containing	29829	protein-coding gene	gene with protein product		613991			NA	9341881, 15194684	Standard	XM_290516	NM_017525	NA	Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.4352C>A	11.37:g.64594559G>T	ENSP00000345133:p.Pro1451His	NA	O00565	37	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596832	0.66332	.	.	ENSG00000171219	ENST00000342711	D	0.84442	-1.85	5.0	4.09	0.47781	.	0.646706	0.13776	N	0.363588	D	0.90724	0.7089	M	0.82716	2.605	0.45704	D	0.998617	D	0.65815	0.995	P	0.57244	0.816	D	0.90315	0.4340	10	0.87932	D	0	.	11.5066	0.50471	0.0884:0.0:0.9116:0.0	.	1451	Q6DT37	MRCKG_HUMAN	H	1451	ENSP00000345133:P1451H	ENSP00000345133:P1451H	P	-	2	0	CDC42BPG	64351135	1.000000	0.71417	0.408000	0.26446	0.322000	0.28314	6.173000	0.71937	1.247000	0.43917	0.561000	0.74099	CCT	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000105352.4		-	ENST00000342711.5	Missense_Mutation	SNP	11 : 64594559 - 64594559 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	579	17
ZFC3H1	196441	broad.mit.edu	37	12	72008644	72008644	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72008644C>A	ENST00000378743.3	-	29	5688	c.5330G>T	c.(5329-5331)aGa>aTa	p.R1777I		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1777					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TATATCACATCTCATAGCCAC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													216	196	202			NA	NA	12		NA											NA				72008644		1923	4150	6073	SO:0001583	missense			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858	196441	196441		Zinc finger, C3H1-type containing	28328	protein-coding gene	gene with protein product			proline/serine-rich coiled-coil 2, coiled-coil domain containing 131	PSRC2, CCDC131	NA	9628581	Standard	NM_144982	NM_144982	NA	Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.5330G>T	12.37:g.72008644C>A	ENSP00000368017:p.Arg1777Ile	NA	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	37	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	C	9.232	1.036083	0.19590	.	.	ENSG00000133858	ENST00000378743	T	0.32272	1.46	5.2	0.144	0.14824	.	0.130606	0.53938	D	0.000060	T	0.15262	0.0368	N	0.19112	0.55	0.41689	D	0.989331	P	0.41748	0.761	B	0.35413	0.202	T	0.05146	-1.0903	10	0.38643	T	0.18	.	9.4812	0.38902	0.0:0.4191:0.0:0.5809	.	1777	O60293	ZC3H1_HUMAN	I	1777	ENSP00000368017:R1777I	ENSP00000368017:R1777I	R	-	2	0	ZFC3H1	70294911	1.000000	0.71417	0.921000	0.36526	0.258000	0.26162	1.667000	0.37471	0.036000	0.15547	-0.252000	0.11476	AGA	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404751.1		-	ENST00000378743.3	Missense_Mutation	SNP	12 : 72008644 - 72008644 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	700	129
FASTKD2	22868	broad.mit.edu	37	2	207631704	207631704	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207631704G>T	ENST00000236980.6	+	2	635	c.287G>T	c.(286-288)aGc>aTc	p.S96I	FASTKD2_ENST00000402774.3_Missense_Mutation_p.S96I|FASTKD2_ENST00000403094.3_Missense_Mutation_p.S96I	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	96					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		AAGGGCATAAGCACTCTAACA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	48	48			NA	NA	2		NA											NA				207631704		2202	4300	6502	SO:0001583	missense			BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246	22868	22868			29160	protein-coding gene	gene with protein product		612322	KIAA0971	KIAA0971	NA		Standard	NM_014929	NM_014929	NA	Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.287G>T	2.37:g.207631704G>T	ENSP00000236980:p.Ser96Ile	NA	Q9NVX6|Q9Y2H7	37	CCDS2371.1	.	.	.	.	.	.	.	.	.	.	G	9.712	1.157315	0.21454	.	.	ENSG00000118246	ENST00000236980;ENST00000418289;ENST00000402774;ENST00000403094	T;T;T;T	0.50548	2.38;0.74;2.38;2.38	4.92	1.03	0.20045	.	1.697270	0.02974	N	0.144720	T	0.34687	0.0906	L	0.33485	1.01	0.09310	N	1	B;B	0.23806	0.091;0.055	B;B	0.19666	0.026;0.012	T	0.20306	-1.0279	10	0.49607	T	0.09	0.102	0.461	0.00516	0.2458:0.1419:0.3209:0.2914	.	96;96	Q9NYY8-2;Q9NYY8	.;FAKD2_HUMAN	I	96	ENSP00000236980:S96I;ENSP00000409927:S96I;ENSP00000385990:S96I;ENSP00000384929:S96I	ENSP00000236980:S96I	S	+	2	0	FASTKD2	207339949	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	0.093000	0.15086	0.012000	0.14892	0.561000	0.74099	AGC	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256428.2		+	ENST00000236980.6	Missense_Mutation	SNP	2 : 207631704 - 207631704 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	178	23
PDXDC1	23042	broad.mit.edu	37	16	15098085	15098085	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15098085G>A	ENST00000396410.4	+	5	381	c.284G>A	c.(283-285)gGa>gAa	p.G95E	PDXDC1_ENST00000325823.7_Missense_Mutation_p.G80E|PDXDC1_ENST00000563679.1_Missense_Mutation_p.G113E|PDXDC1_ENST00000447912.2_Intron|PDXDC1_ENST00000450288.2_Missense_Mutation_p.G67E|PDXDC1_ENST00000455313.2_Missense_Mutation_p.G95E|PDXDC1_ENST00000535621.2_Missense_Mutation_p.G95E|PDXDC1_ENST00000569715.1_Missense_Mutation_p.G68E	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	95					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GCTTTGTTGGGACATAGTCTG	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	176	171			NA	NA	16		NA											NA				15098085		2197	4300	6497	SO:0001583	missense			AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05					23042	23042			28995	protein-coding gene	gene with protein product		614244			NA		Standard	NM_015027	XM_005255173	NA	Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.284G>A	16.37:g.15098085G>A	ENSP00000379691:p.Gly95Glu	NA	O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	37	CCDS32393.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944065	0.92593	.	.	ENSG00000179889	ENST00000325823;ENST00000535621;ENST00000396410;ENST00000450288;ENST00000455313	T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88	5.72	5.72	0.89469	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.50446	0.1616	L	0.60455	1.87	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.984	D;D;D;D;D;P	0.97110	0.998;1.0;0.995;0.998;0.998;0.885	T	0.43766	-0.9371	10	0.72032	D	0.01	-24.923	19.2382	0.93871	0.0:0.0:1.0:0.0	.	67;80;95;67;95;95	E7EPL4;B4DHL7;Q86XE2;B4DR55;Q6P996;Q6P996-2	.;.;.;.;PDXD1_HUMAN;.	E	80;95;95;67;95	ENSP00000322807:G80E;ENSP00000437835:G95E;ENSP00000379691:G95E;ENSP00000391147:G67E;ENSP00000406703:G95E	ENSP00000322807:G80E	G	+	2	0	PDXDC1	15005586	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.229000	0.95273	2.850000	0.98022	0.650000	0.86243	GGA	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389065.2		+	ENST00000396410.4	Missense_Mutation	SNP	16 : 15098085 - 15098085 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	970	36
ZFHX4	79776	broad.mit.edu	37	8	77762534	77762534	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77762534C>A	ENST00000521891.2	+	9	4348	c.3900C>A	c.(3898-3900)gcC>gcA	p.A1300A	ZFHX4_ENST00000518282.1_Silent_p.A1274A|ZFHX4_ENST00000455469.2_Silent_p.A1255A|ZFHX4_ENST00000050961.6_Silent_p.A1255A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1255						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGCAGCTGCCTCTGAGAAAT	0.478		NA								HNSCC(33;0.089)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	51	50			NA	NA	8		NA											NA				77762534		1947	4144	6091	SO:0001819	synonymous_variant				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656	79776	79776		Homeoboxes / ZF class	30939	protein-coding gene	gene with protein product		606940	zinc finger homeodomain 4		NA	10873665, 11935336	Standard	NM_024721	NM_024721	NA	Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.3900C>A	8.37:g.77762534C>A		NA	Q18PS0|Q6ZN20	37	CCDS47878.2																																																																																			ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379197.2		+	ENST00000521891.2	Silent	SNP	8 : 77762534 - 77762534 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	141	25
ODF2	4957	broad.mit.edu	37	9	131262527	131262527	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131262527C>A	ENST00000434106.3	+	21	2846	c.2483C>A	c.(2482-2484)cCt>cAt	p.P828H	ODF2_ENST00000444119.2_Missense_Mutation_p.P804H|ODF2_ENST00000604420.1_Missense_Mutation_p.P828H|ODF2_ENST00000393527.3_Missense_Mutation_p.P804H|ODF2_ENST00000372807.5_Missense_Mutation_p.P823H|ODF2_ENST00000351030.3_Missense_Mutation_p.P823H	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	NA					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CGATCTCCTCCTGCCTGAGGC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	116	122			NA	NA	9		NA											NA				131262527		2203	4300	6503	SO:0001583	missense			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811	4957	4957			8114	protein-coding gene	gene with protein product	cancer/testis antigen 134	602015	outer dense fibre of sperm tails 2		NA	9045620, 10072582	Standard		NM_153435	NA	Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.2483C>A	9.37:g.131262527C>A	ENSP00000403453:p.Pro828His	NA	B4DRK4|B4DZ02|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	37	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.863291	0.91511	.	.	ENSG00000136811	ENST00000351030;ENST00000372796;ENST00000303890	T;T;T	0.32515	1.58;1.45;1.57	5.5	4.6	0.57074	.	0.484236	0.19596	N	0.110515	T	0.31734	0.0806	N	0.14661	0.345	0.80722	D	1	P;D;P;B	0.69078	0.743;0.997;0.743;0.444	B;P;B;B	0.57548	0.432;0.823;0.432;0.432	T	0.16217	-1.0410	10	0.87932	D	0	-10.0449	11.2733	0.49153	0.0:0.9148:0.0:0.0852	.	823;173;828;804	Q5BJF6-4;Q6PJQ8;Q5BJF6;Q5BJF6-3	.;.;ODFP2_HUMAN;.	H	823;828;804	ENSP00000342581:P823H;ENSP00000361882:P828H;ENSP00000307781:P804H	ENSP00000307781:P804H	P	+	2	0	ODF2	130302348	0.941000	0.31946	0.490000	0.27465	0.702000	0.40608	1.728000	0.38105	1.314000	0.45095	0.561000	0.74099	CCT	ODF2-011	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054449.3		+	ENST00000434106.3	Missense_Mutation	SNP	9 : 131262527 - 131262527 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	580	88
CNTN5	53942	broad.mit.edu	37	11	99690413	99690413	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:99690413C>T	ENST00000524871.1	+	4	484	c.194C>T	c.(193-195)tCt>tTt	p.S65F	CNTN5_ENST00000527185.1_Missense_Mutation_p.S65F|CNTN5_ENST00000528682.1_Missense_Mutation_p.S65F|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000279463.3_Missense_Mutation_p.S65F	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	65					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTGAGTGCTTCTTCACCCAGC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	92	92			NA	NA	11		NA											NA				99690413		1922	4125	6047	SO:0001583	missense			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972	53942	53942		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	2175	protein-coding gene	gene with protein product		607219			NA		Standard	NM_014361	NM_014361	NA	Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.194C>T	11.37:g.99690413C>T	ENSP00000435637:p.Ser65Phe	NA	A1L4P0|B7ZM07|O94780	37	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.575017	0.28092	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000279463	T;T;T;T	0.56444	0.46;0.53;0.53;0.53	4.74	3.8	0.43715	.	0.334642	0.24894	N	0.034757	T	0.42131	0.1189	N	0.19112	0.55	0.37224	D	0.905385	P;P	0.46277	0.875;0.79	P;B	0.44732	0.459;0.276	T	0.50250	-0.8850	10	0.42905	T	0.14	.	13.9622	0.64188	0.153:0.8469:0.0:0.0	.	65;65	E9PKE8;O94779	.;CNTN5_HUMAN	F	65	ENSP00000433575:S65F;ENSP00000436185:S65F;ENSP00000435637:S65F;ENSP00000279463:S65F	ENSP00000279463:S65F	S	+	2	0	CNTN5	99195623	0.904000	0.30761	0.996000	0.52242	0.267000	0.26476	1.828000	0.39111	1.266000	0.44231	0.650000	0.86243	TCT	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395148.2		+	ENST00000524871.1	Missense_Mutation	SNP	11 : 99690413 - 99690413 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	311	31
BANP	54971	broad.mit.edu	37	16	88066767	88066767	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88066767G>A	ENST00000393207.1	+	9	1313	c.1092G>A	c.(1090-1092)ccG>ccA	p.P364P	BANP_ENST00000393208.2_Silent_p.P333P|BANP_ENST00000286122.7_Silent_p.P364P|BANP_ENST00000479780.2_Silent_p.P333P|BANP_ENST00000355022.4_Silent_p.P333P|BANP_ENST00000538234.1_Silent_p.P372P|BANP_ENST00000355163.5_Silent_p.P339P	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	364	DNA-binding (By similarity).|Gln-rich.				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		AGCCACAGCCGCAGCCGCAGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	23	25			NA	NA	16		NA											NA				88066767		2198	4299	6497	SO:0001819	synonymous_variant			AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530	54971	54971		BEN domain containing	13450	protein-coding gene	gene with protein product	BEN domain containing 1	611564			NA	10940556, 10950932	Standard	NM_017869	NM_017869	NA	Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.1092G>A	16.37:g.88066767G>A		NA	A8MU25|A8MX25|Q96GJ7|Q9NWY1	37	CCDS54054.1																																																																																			BANP-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269166.1		+	ENST00000393207.1	Silent	SNP	16 : 88066767 - 88066767 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	227	10
PLBD2	196463	broad.mit.edu	37	12	113810480	113810480	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113810480G>A	ENST00000545182.2	+	3	446	c.411G>A	c.(409-411)acG>acA	p.T137T	PLBD2_ENST00000280800.3_Silent_p.T137T	NM_001159727.1	NP_001153199.1	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	137					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GGATGAACACGGTGGTGAATT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	109	110			NA	NA	12		NA											NA				113810480		2203	4300	6503	SO:0001819	synonymous_variant			BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176	196463	196463			27283	protein-coding gene	gene with protein product	PLB homolog 2 (Dictyostelium), mannose-6-phosphate protein associated protein p76				NA	17105447, 15193148, 19019078	Standard	NM_173542	NM_001159727	NA	Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000545182.2:c.411G>A	12.37:g.113810480G>A		NA		37	CCDS53834.1																																																																																			PLBD2-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404834.1		+	ENST00000545182.2	Silent	SNP	12 : 113810480 - 113810480 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1038	153
HS6ST1	9394	broad.mit.edu	37	2	129026052	129026052	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:129026052G>A	ENST00000259241.6	-	2	933	c.920C>T	c.(919-921)aCg>aTg	p.T307M		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	307					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GAGGTTGAACGTCCGCTCGAA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/THR	1,4175		0,1,2087	32	33	33		920	4.8	1	2		33	0,8424		0,0,4212	no	missense	HS6ST1	NM_004807.2	81	0,1,6299	AA,AG,GG	NA	0.0,0.0239,0.0079	probably-damaging	307/412	129026052	1,12599	2088	4212	6300	SO:0001583	missense			AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720	9394	9394		Sulfotransferases, membrane-bound	5201	protein-coding gene	gene with protein product		604846		HS6ST	NA	9535912	Standard	NM_004807	NM_004807	NA	Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.920C>T	2.37:g.129026052G>A	ENSP00000259241:p.Thr307Met	NA	B4DEP2|B4DJ29|Q53SL2|Q9BVI1	37	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874990	0.72180	2.39E-4	0.0	ENSG00000136720	ENST00000259241	D	0.84589	-1.87	4.78	4.78	0.61160	.	0.047862	0.85682	N	0.000000	D	0.91085	0.7194	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90815	0.4704	9	.	.	.	0.0782	17.8351	0.88693	0.0:0.0:1.0:0.0	.	307	O60243	H6ST1_HUMAN	M	307	ENSP00000259241:T307M	.	T	-	2	0	HS6ST1	128742522	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.439000	0.97543	2.203000	0.70933	0.462000	0.41574	ACG	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331572.1		-	ENST00000259241.6	Missense_Mutation	SNP	2 : 129026052 - 129026052 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	237	40
MED13	9969	broad.mit.edu	37	17	60028352	60028352	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60028352C>T	ENST00000397786.2	-	28	6201	c.6125G>A	c.(6124-6126)aGt>aAt	p.S2042N		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	2042					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCGATCAGTACTCTGACCCTT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	85	88			NA	NA	17		NA											NA				60028352		1881	4129	6010	SO:0001583	missense			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510	9969	9969			22474	protein-coding gene	gene with protein product		603808	thyroid hormone receptor associated protein 1	THRAP1	NA	1019863	Standard	NM_005121	NM_005121	NA	Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.6125G>A	17.37:g.60028352C>T	ENSP00000380888:p.Ser2042Asn	NA	B2RU05|O60334	37	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	C	8.125	0.781751	0.16120	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.82081	-1.57	6.04	6.04	0.98038	.	0.086896	0.85682	D	0.000000	T	0.78413	0.4279	L	0.43152	1.355	0.40256	D	0.978125	B	0.02656	0.0	B	0.08055	0.003	T	0.72567	-0.4254	10	0.10111	T	0.7	-14.3882	20.5792	0.99380	0.0:1.0:0.0:0.0	.	2042	Q9UHV7	MED13_HUMAN	N	2042;2041	ENSP00000380888:S2042N	ENSP00000262436:S2041N	S	-	2	0	MED13	57383134	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.735000	0.68587	2.873000	0.98535	0.561000	0.74099	AGT	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445461.1		-	ENST00000397786.2	Missense_Mutation	SNP	17 : 60028352 - 60028352 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	355	64
KLHL9	55958	broad.mit.edu	37	9	21333707	21333707	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:21333707T>G	ENST00000359039.4	-	1	1672	c.1152A>C	c.(1150-1152)tcA>tcC	p.S384S	KLHL9_ENST00000537938.1_Silent_p.S316S			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	384					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		TTTCATTTAATGATGCAACCT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	78	79			NA	NA	9		NA											NA				21333707		2203	4300	6503	SO:0001819	synonymous_variant			AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642	55958	55958		Kelch-like, BTB/POZ domain containing	18732	protein-coding gene	gene with protein product		611201	kelch-like 9 (Drosophila)		NA		Standard	NM_018847	NM_018847	NA	Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.1152A>C	9.37:g.21333707T>G		NA	Q8TCQ2	37	CCDS6503.1																																																																																			KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051898.2		-	ENST00000359039.4	Silent	SNP	9 : 21333707 - 21333707 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	429	70
UBXN2A	165324	broad.mit.edu	37	2	24194191	24194191	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24194191A>G	ENST00000309033.4	+	3	331	c.87A>G	c.(85-87)caA>caG	p.Q29Q	UBXN2A_ENST00000404924.1_Silent_p.Q29Q|UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000535786.1_Silent_p.Q29Q	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	29										endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						GTAATAATCAACAATCAAATT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	142	140			NA	NA	2		NA											NA				24194191		2203	4300	6503	SO:0001819	synonymous_variant			BC037901	CCDS1704.1	2p24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000173960	ENSG00000173960	165324	165324		UBX domain containing	27265	protein-coding gene	gene with protein product			UBX domain containing 4	UBXD4	NA	12477932	Standard	NM_181713	NM_181713	NA	Approved		uc002ren.3	P68543	OTTHUMG00000125497	ENST00000309033.4:c.87A>G	2.37:g.24194191A>G		NA	A8K577|Q569G8	37	CCDS1704.1																																																																																			UBXN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000246824.2		+	ENST00000309033.4	Silent	SNP	2 : 24194191 - 24194191 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	582	166
CDC42EP4	23580	broad.mit.edu	37	17	71282594	71282594	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71282594G>A	ENST00000335793.3	-	2	440	c.46C>T	c.(46-48)Cgc>Tgc	p.R16C	CDC42EP4_ENST00000581014.1_Missense_Mutation_p.R16C|CDC42EP4_ENST00000439510.2_Missense_Mutation_p.R16C			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	16					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CGGGAACGGCGCTTGGAGTGC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	27	26			NA	NA	17		NA											NA				71282594		2203	4300	6503	SO:0001583	missense			AB042237	CCDS11695.1	17q24-q25	2008-07-18				ENSG00000179604	23580	23580			17147	protein-coding gene	gene with protein product	Cdc42 effector protein 4, binder of Rho GTPases 4	605468			NA	11035016, 10490598	Standard	NM_012121	NM_012121	NA	Approved	CEP4, KAIA1777, BORG4, MGC3740, MGC17125	uc002jjo.3	Q9H3Q1		ENST00000335793.3:c.46C>T	17.37:g.71282594G>A	ENSP00000338258:p.Arg16Cys	NA	O95828|Q96FT3	37	CCDS11695.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.859681	0.91433	.	.	ENSG00000179604	ENST00000335793;ENST00000439510	T;T	0.37584	1.19;1.34	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.54013	0.1832	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	T	0.54214	-0.8327	10	0.56958	D	0.05	-22.2573	13.1241	0.59344	0.0:0.0:0.8396:0.1603	.	16;16	B3KUS7;Q9H3Q1	.;BORG4_HUMAN	C	16	ENSP00000338258:R16C;ENSP00000404270:R16C	ENSP00000338258:R16C	R	-	1	0	CDC42EP4	68794189	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.548000	0.60718	2.378000	0.81104	0.585000	0.79938	CGC	CDC42EP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000441898.1		-	ENST00000335793.3	Missense_Mutation	SNP	17 : 71282594 - 71282594 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	190	37
DCDC2	51473	broad.mit.edu	37	6	24291177	24291177	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24291177C>T	ENST00000378454.3	-	5	988	c.687G>A	c.(685-687)acG>acA	p.T229T		NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	229					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GCCTTCTCATCGTTGACTTGT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	109	112			NA	NA	6		NA											NA				24291177		2203	4300	6503	SO:0001819	synonymous_variant			AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038	51473	51473			18141	protein-coding gene	gene with protein product		605755			NA	10601354, 10574461	Standard	NM_016356	NM_001195610	NA	Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.687G>A	6.37:g.24291177C>T		NA	Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	37	CCDS4550.1																																																																																			DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043604.1		-	ENST00000378454.3	Silent	SNP	6 : 24291177 - 24291177 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	248	41
GABRA5	2558	broad.mit.edu	37	15	27128536	27128536	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27128536G>A	ENST00000335625.5	+	6	1217	c.329G>A	c.(328-330)cGg>cAg	p.R110Q	GABRA5_ENST00000355395.5_Missense_Mutation_p.R110Q|GABRA5_ENST00000557449.1_Intron|GABRA5_ENST00000400081.3_Missense_Mutation_p.R110Q|GABRB3_ENST00000541819.2_Intron	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	110					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GAAAGGCTTCGGTTTAAGGGG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	117	114			NA	NA	15		NA											NA				27128536		2118	4262	6380	SO:0001583	missense				CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297	2558	2558		GABA receptors, Ligand-gated ion channels / GABA(A) receptors	4079	protein-coding gene	gene with protein product	GABA(A) receptor, alpha 5	137142			NA	1321750	Standard		NM_000810	NA	Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.329G>A	15.37:g.27128536G>A	ENSP00000335592:p.Arg110Gln	NA	A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	37	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651070	0.47362	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000555182;ENST00000400081;ENST00000554596;ENST00000554599;ENST00000554083	T;T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	5.4	3.39	0.38822	Neurotransmitter-gated ion-channel ligand-binding (3);	0.101513	0.64402	N	0.000002	T	0.59715	0.2214	N	0.13098	0.295	0.35436	D	0.794458	B	0.06786	0.001	B	0.08055	0.003	T	0.59968	-0.7354	10	0.62326	D	0.03	.	8.0138	0.30368	0.2683:0.0:0.7317:0.0	.	110	P31644	GBRA5_HUMAN	Q	110;110;78;110;110;110;78	ENSP00000335592:R110Q;ENSP00000347557:R110Q;ENSP00000450653:R78Q;ENSP00000382953:R110Q;ENSP00000450806:R110Q;ENSP00000450717:R110Q;ENSP00000450529:R78Q	ENSP00000335592:R110Q	R	+	2	0	GABRA5	24679629	0.033000	0.19621	0.919000	0.36401	0.646000	0.38490	1.164000	0.31810	0.655000	0.30866	0.561000	0.74099	CGG	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415234.1		+	ENST00000335625.5	Missense_Mutation	SNP	15 : 27128536 - 27128536 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	796	32
GTF2I	2969	broad.mit.edu	37	7	74114695	74114695	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:74114695C>T	ENST00000324896.4	+	5	881	c.492C>T	c.(490-492)aaC>aaT	p.N164N	GTF2I_ENST00000353920.4_Silent_p.N164N|GTF2I_ENST00000443166.1_Silent_p.N164N|GTF2I_ENST00000346152.4_Silent_p.N164N|GTF2I_ENST00000416070.1_Silent_p.N164N|AC083884.8_ENST00000594967.1_RNA|AC083884.8_ENST00000450426.2_RNA|AC083884.8_ENST00000434256.1_RNA	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	164					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						ACCCCGAGAACTATGATCTTG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	119	119			NA	NA	7		NA											NA				74114695		2203	4300	6503	SO:0001819	synonymous_variant			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001	2969	2969		General transcription factors	4659	protein-coding gene	gene with protein product		601679	general transcription factor II, i	WBSCR6	NA	9334314, 9012831	Standard	NM_032999	NM_032999	NA	Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.492C>T	7.37:g.74114695C>T		NA	O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q9BSZ4	37	CCDS5573.1																																																																																			GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252708.1		+	ENST00000324896.4	Silent	SNP	7 : 74114695 - 74114695 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	681	174
NPAS3	64067	broad.mit.edu	37	14	34269619	34269619	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:34269619C>T	ENST00000346562.2	+	11	2084	c.2010C>T	c.(2008-2010)ggC>ggT	p.G670G	NPAS3_ENST00000357798.5_Silent_p.G689G|NPAS3_ENST00000548645.1_Silent_p.G672G|NPAS3_ENST00000551492.1_Silent_p.G707G|NPAS3_ENST00000356141.4_Silent_p.G702G	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	702					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GTGGGGGTGGCGGTGGCGGGG	0.741		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													10	13	12			NA	NA	14		NA											NA				34269619		2060	4039	6099	SO:0001819	synonymous_variant			AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322	64067	64067		Basic helix-loop-helix proteins	19311	protein-coding gene	gene with protein product		609430			NA		Standard		NM_022123	NA	Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000346562.2:c.2010C>T	14.37:g.34269619C>T		NA	Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	37	CCDS9645.1																																																																																			NPAS3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276644.1		+	ENST00000346562.2	Silent	SNP	14 : 34269619 - 34269619 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	208	50
ALPL	249	broad.mit.edu	37	1	21889699	21889699	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21889699G>A	ENST00000374840.3	+	5	644	c.394G>A	c.(394-396)Gca>Aca	p.A132T	ALPL_ENST00000374832.1_Missense_Mutation_p.A132T|ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000425315.2_Missense_Mutation_p.A132T|ALPL_ENST00000539907.1_Missense_Mutation_p.A55T|ALPL_ENST00000540617.1_Missense_Mutation_p.A77T	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	132			A -> V (in HOPS).		response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	GGGGGTAAGCGCAGCCACTGA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM068249	ALPL	M							80	72	75			NA	NA	1		NA											NA				21889699		2203	4300	6503	SO:0001583	missense			BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	249	249	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS	NA	3532105, 3446011	Standard	NM_000478	NM_001127501	NA	Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.394G>A	1.37:g.21889699G>A	ENSP00000363973:p.Ala132Thr	NA	A1A4E7|B2RMP8|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	37	CCDS217.1	.	.	.	.	.	.	.	.	.	.	G	33	5.240773	0.95240	.	.	ENSG00000162551	ENST00000539907;ENST00000540617;ENST00000374840;ENST00000374832;ENST00000425315	D;D;D;D;D	0.96136	-3.92;-3.92;-3.92;-3.92;-3.92	4.49	4.49	0.54785	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.050790	0.85682	D	0.000000	D	0.97405	0.9151	M	0.78344	2.41	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.982;0.977;0.995	D	0.97812	1.0251	10	0.59425	D	0.04	-20.2969	15.8954	0.79329	0.0:0.0:1.0:0.0	.	55;80;132	B7Z387;B7Z1D1;P05186	.;.;PPBT_HUMAN	T	55;77;132;132;132	ENSP00000437674:A55T;ENSP00000442672:A77T;ENSP00000363973:A132T;ENSP00000363965:A132T;ENSP00000394765:A132T	ENSP00000363965:A132T	A	+	1	0	ALPL	21762286	1.000000	0.71417	0.956000	0.39512	0.837000	0.47467	9.383000	0.97214	2.320000	0.78422	0.655000	0.94253	GCA	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000008202.1		+	ENST00000374840.3	Missense_Mutation	SNP	1 : 21889699 - 21889699 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	462	47
POMGNT1	55624	broad.mit.edu	37	1	46656157	46656157	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46656157T>C	ENST00000371992.1	-	19	2287	c.1637A>G	c.(1636-1638)cAc>cGc	p.H546R	POMGNT1_ENST00000535522.1_Missense_Mutation_p.H524R|POMGNT1_ENST00000371984.3_Missense_Mutation_p.H546R|POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000371986.3_Missense_Mutation_p.H546R|POMGNT1_ENST00000396420.3_3'UTR	NM_001243766.1	NP_001230695	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	546					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					GAGCAGCCTGTGAACTTCCAC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													186	194	191			NA	NA	1		NA											NA				46656157		2203	4300	6503	SO:0001583	missense				CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	55624	55624	2.4.1.-	Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases	19139	protein-coding gene	gene with protein product	protein O-mannose beta-1,2-N-acetylglucosaminyltransferase	606822	muscle-eye-brain disease, protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase	MEB	NA	11742540, 12788071	Standard	NM_017739	NM_017739	NA	Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371992.1:c.1637A>G	1.37:g.46656157T>C	ENSP00000361060:p.His546Arg	NA	D3DQ16|Q5VST2|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	37	CCDS57995.1	.	.	.	.	.	.	.	.	.	.	T	12.38	1.920763	0.33908	.	.	ENSG00000085998	ENST00000371984;ENST00000371992;ENST00000535522;ENST00000371986	T;D;T;D	0.85013	-0.29;-1.93;-0.29;-1.93	5.53	4.3	0.51218	.	0.104769	0.64402	D	0.000003	T	0.70833	0.3269	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.20550	0.007;0.046;0.003;0.002	B;B;B;B	0.15870	0.011;0.009;0.011;0.014	T	0.65434	-0.6169	10	0.15066	T	0.55	-21.8027	12.0904	0.53722	0.1376:0.0:0.0:0.8624	.	524;546;403;546	F5H827;Q5VST3;B7Z7F2;Q8WZA1	.;.;.;PMGT1_HUMAN	R	546;546;524;546	ENSP00000361052:H546R;ENSP00000361060:H546R;ENSP00000443767:H524R;ENSP00000361054:H546R	ENSP00000361052:H546R	H	-	2	0	POMGNT1	46428744	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.170000	0.50816	2.124000	0.65301	0.459000	0.35465	CAC	POMGNT1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000020147.1		-	ENST00000371992.1	Missense_Mutation	SNP	1 : 46656157 - 46656157 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1664	149
SPPL3	121665	broad.mit.edu	37	12	121202852	121202852	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121202852A>C	ENST00000353487.2	-	11	1608	c.1105T>G	c.(1105-1107)Tct>Gct	p.S369A		NM_139015.4	NP_620584.2	Q8TCT6	PSL4_HUMAN	signal peptide peptidase like 3	370						integral to membrane	aspartic-type endopeptidase activity				NA	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AAAGGCTCAGACCACATCCGC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	61	63			NA	NA	12		NA											NA				121202852		2203	4300	6503	SO:0001583	missense				CCDS9208.1	12q24.31	2012-02-21			ENSG00000157837	ENSG00000157837	121665	121665			30424	protein-coding gene	gene with protein product	intramembrane protease 2, presenilin-like protein 4	608240			NA	12139484	Standard	NM_139015	NM_139015	NA	Approved	IMP2, PSL4, MGC90402, MGC126674, MGC126676, DKFZP586C1324	uc001tzd.3	Q8TCT6	OTTHUMG00000169232	ENST00000353487.2:c.1105T>G	12.37:g.121202852A>C	ENSP00000288680:p.Ser369Ala	NA	Q8TAU4|Q96DD9	37	CCDS9208.1	.	.	.	.	.	.	.	.	.	.	A	14.70	2.613923	0.46631	.	.	ENSG00000157837	ENST00000353487;ENST00000405631	T	0.18016	2.24	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.18718	0.0449	L	0.43757	1.38	0.80722	D	1	P;P	0.39424	0.673;0.625	B;B	0.40256	0.324;0.252	T	0.01977	-1.1236	10	0.33940	T	0.23	-32.8141	15.477	0.75489	1.0:0.0:0.0:0.0	.	370;369	Q8TCT6;Q3MJ04	PSL4_HUMAN;.	A	369;368	ENSP00000288680:S369A	ENSP00000288680:S369A	S	-	1	0	AC069214.1	119687235	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.730000	0.91510	2.108000	0.64289	0.533000	0.62120	TCT	SPPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402980.2		-	ENST00000353487.2	Missense_Mutation	SNP	12 : 121202852 - 121202852 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	166	42
MET	4233	broad.mit.edu	37	7	116411905	116411905	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116411905C>A	ENST00000397752.3	+	14	3090	c.2890C>A	c.(2890-2892)Ctg>Atg	p.L964M	MET_ENST00000318493.6_Missense_Mutation_p.L982M	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	MET proto-oncogene, receptor tyrosine kinase	964					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.L982_D1028del(3)|p.D981_D1028del(1)|p.982_1028del47(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GTTTTAAGATCTGGGCAGTGA	0.458		NA	Mis		papillary renal, head-neck squamous cell 	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	5	Deletion - In frame(4)|Unknown(1)	lung(5)											62	58	59			NA	NA	7		NA											NA				116411905		1869	4103	5972	SO:0001583	missense	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	NA	4233	2.7.10.1		7029	protein-coding gene	gene with protein product	hepatocyte growth factor receptor	164860	met proto-oncogene		NA	1846706, 1611909	Standard		NM_001127500	NA	Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000397752.3:c.2890C>A	7.37:g.116411905C>A	ENSP00000380860:p.Leu964Met	NA	O60366|Q12875|Q9UDX7|Q9UPL8	37	CCDS43636.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672763	0.67928	.	.	ENSG00000105976	ENST00000397752;ENST00000318493	T;T	0.76968	-1.06;-0.91	5.76	5.76	0.90799	.	0.066380	0.64402	D	0.000007	D	0.87297	0.6142	M	0.78916	2.43	0.80722	D	1	D;D	0.63880	0.993;0.959	D;P	0.70227	0.968;0.65	D	0.87240	0.2266	10	0.54805	T	0.06	.	14.4921	0.67657	0.0:0.9299:0.0:0.0701	.	982;964	P08581-2;P08581	.;MET_HUMAN	M	964;982	ENSP00000380860:L964M;ENSP00000317272:L982M	ENSP00000317272:L982M	L	+	1	2	MET	116199141	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.423000	0.44705	2.882000	0.98803	0.655000	0.94253	CTG	MET-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000141947.3		+	ENST00000397752.3	Missense_Mutation	SNP	7 : 116411905 - 116411905 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	245	40
CEP85L	387119	broad.mit.edu	37	6	118886795	118886795	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:118886795G>A	ENST00000392500.3	-	5	1096	c.926C>T	c.(925-927)aCa>aTa	p.T309I	CEP85L_ENST00000419517.2_Missense_Mutation_p.T306I|CEP85L_ENST00000472713.1_5'UTR|CEP85L_ENST00000368488.5_Missense_Mutation_p.T309I|CEP85L_ENST00000360290.3_Missense_Mutation_p.T204I|CEP85L_ENST00000368491.3_Missense_Mutation_p.T306I			Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	306						centrosome					NA						CAAAGGATTTGTCCGCAGCTG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	111	113			NA	NA	6		NA											NA				118886795		2203	4300	6503	SO:0001583	missense			AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860	387119	387119			21638	protein-coding gene	gene with protein product			chromosome 6 open reading frame 204	C6orf204	NA		Standard	NM_001042475	NM_206921	NA	Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000392500.3:c.926C>T	6.37:g.118886795G>A	ENSP00000376288:p.Thr309Ile	NA	A1A4E1|A2IDE5|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	37		.	.	.	.	.	.	.	.	.	.	G	22.9	4.347511	0.82022	.	.	ENSG00000111860	ENST00000368491;ENST00000368488;ENST00000434604;ENST00000392500;ENST00000360290;ENST00000419517	T;T;T;T;T;T	0.23950	3.06;3.06;2.46;2.19;1.88;2.19	6.07	6.07	0.98685	.	0.198278	0.44483	D	0.000458	T	0.25195	0.0612	N	0.22421	0.69	0.40526	D	0.980881	D;D;D;D;D	0.59767	0.96;0.986;0.986;0.96;0.96	P;P;P;P;P	0.55391	0.711;0.775;0.775;0.663;0.663	T	0.01440	-1.1354	10	0.52906	T	0.07	-16.8619	20.6593	0.99626	0.0:0.0:1.0:0.0	.	204;309;306;309;306	B4DYT2;Q5SZL2-2;G3V0H3;F8W6J2;Q5SZL2	.;.;.;.;CF204_HUMAN	I	306;309;309;309;204;306	ENSP00000357477:T306I;ENSP00000357474:T309I;ENSP00000392131:T309I;ENSP00000376288:T309I;ENSP00000353434:T204I;ENSP00000393317:T306I	ENSP00000353434:T204I	T	-	2	0	C6orf204	118993488	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.053000	0.71089	2.885000	0.99019	0.655000	0.94253	ACA	CEP85L-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000041998.3		-	ENST00000392500.3	Missense_Mutation	SNP	6 : 118886795 - 118886795 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	453	76
ASAP3	55616	broad.mit.edu	37	1	23760792	23760792	+	Missense_Mutation	SNP	C	C	T	rs113419927		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23760792C>T	ENST00000336689.3	-	19	1950	c.1906G>A	c.(1906-1908)Gac>Aac	p.D636N	ASAP3_ENST00000437606.2_Missense_Mutation_p.D627N|ASAP3_ENST00000495646.1_Missense_Mutation_p.D140N	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	636					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						TTGAGGCAGTCGGGCTGGTTG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	112	117			NA	NA	1		NA											NA				23760792		2203	4300	6503	SO:0001583	missense			AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280	55616	55616		ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing	14987	protein-coding gene	gene with protein product	centaurin, beta 6		development and differentiation enhancing factor-like 1	DDEFL1	NA	14654939	Standard	NM_017707	NM_017707	NA	Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.1906G>A	1.37:g.23760792C>T	ENSP00000338769:p.Asp636Asn	NA	B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	37	CCDS235.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291951	0.40594	.	.	ENSG00000088280	ENST00000538685;ENST00000495646;ENST00000336689;ENST00000437606	T;T;T	0.66099	-0.19;-0.19;-0.19	4.0	3.08	0.35506	Ankyrin repeat-containing domain (4);	0.213938	0.37623	N	0.002014	T	0.45397	0.1340	L	0.28556	0.865	0.39951	D	0.97454	P;P;B;B	0.40066	0.701;0.683;0.379;0.407	B;B;B;B	0.36378	0.076;0.16;0.223;0.151	T	0.49390	-0.8945	10	0.62326	D	0.03	.	8.3007	0.32012	0.0:0.7986:0.0:0.2014	.	627;505;159;636	Q8TDY4-3;B4DRP2;Q9NXH7;Q8TDY4	.;.;.;ASAP3_HUMAN	N	159;140;636;627	ENSP00000436150:D140N;ENSP00000338769:D636N;ENSP00000408826:D627N	ENSP00000338769:D636N	D	-	1	0	ASAP3	23633379	0.997000	0.39634	0.980000	0.43619	0.250000	0.25880	3.464000	0.53057	1.027000	0.39758	0.297000	0.19635	GAC	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000008916.2		-	ENST00000336689.3	Missense_Mutation	SNP	1 : 23760792 - 23760792 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	465	83
ZNF135	7694	broad.mit.edu	37	19	58578888	58578888	+	Nonsense_Mutation	SNP	C	C	T	rs144688815		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58578888C>T	ENST00000506786.1	+	5	1464	c.910C>T	c.(910-912)Cga>Tga	p.R304*	ZNF135_ENST00000439855.2_Nonsense_Mutation_p.R346*|ZNF135_ENST00000313434.5_Nonsense_Mutation_p.R346*|ZNF135_ENST00000401053.4_Nonsense_Mutation_p.R370*|ZNF135_ENST00000359978.6_Nonsense_Mutation_p.R358*|ZNF135_ENST00000511556.1_Nonsense_Mutation_p.R358*			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	358					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CCAGCATCTGCGAATCCACAC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,stop/ARG,stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	51	44	46		,1072,1072,1108	-0.7	0.7	19	dbSNP_134	46	0,8600		0,0,4300	no	utr-3,stop-gained,stop-gained,stop-gained	ZNF135	NM_001164529.1,NM_001164530.1,NM_003436.3,NM_007134.1	,,,	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	,,,	,358/391,358/671,370/683	58578888	1,13005	2203	4300	6503	SO:0001587	stop_gained			U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293	7694	7694		Zinc fingers, C2H2-type, -	12919	protein-coding gene	gene with protein product		604077	zinc finger protein 61, zinc finger protein 135 (clone pHZ-17)	ZNF61, ZNF78L1	NA	7557990, 1505991	Standard	NM_003436	NM_003436	NA	Approved	pHZ-17	uc002qrg.3	P52742		ENST00000506786.1:c.910C>T	19.37:g.58578888C>T	ENSP00000427691:p.Arg304*	NA		37		.	.	.	.	.	.	.	.	.	.	C	12.54	1.968279	0.34754	2.27E-4	0.0	ENSG00000176293	ENST00000504540;ENST00000401053;ENST00000359978;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786	.	.	.	3.19	-0.696	0.11287	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.2145	0.01911	0.4005:0.3059:0.1603:0.1332	.	.	.	.	X	358;370;358;346;346;358;304	.	ENSP00000321406:R346X	R	+	1	2	ZNF135	63270700	0.000000	0.05858	0.659000	0.29680	0.005000	0.04900	-0.827000	0.04424	0.167000	0.19631	-0.302000	0.09304	CGA	ZNF135-005	KNOWN	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000361901.2		+	ENST00000506786.1	Nonsense_Mutation	SNP	19 : 58578888 - 58578888 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	268	45
ADM	133	broad.mit.edu	37	11	10328148	10328148	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10328148C>T	ENST00000528655.1	+	3	1135	c.518C>T	c.(517-519)gCt>gTt	p.A173V	ADM_ENST00000278175.5_Missense_Mutation_p.A173V|ADM_ENST00000530439.1_Missense_Mutation_p.A105V|ADM_ENST00000534464.1_Missense_Mutation_p.A126V|ADM_ENST00000525063.1_Missense_Mutation_p.A173V			P35318	ADML_HUMAN	adrenomedullin	173					blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		GCACACGGGGCTCCAGCCCCC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	21	19			NA	NA	11		NA											NA				10328148		2176	4232	6408	SO:0001583	missense			D14874	CCDS7801.1	11p15.4	2013-02-25			ENSG00000148926	ENSG00000148926	133	133		Endogenous ligands	259	protein-coding gene	gene with protein product		103275			NA	7688224	Standard	NM_001124	NM_001124	NA	Approved	AM	uc001mil.1	P35318	OTTHUMG00000165907	ENST00000528655.1:c.518C>T	11.37:g.10328148C>T	ENSP00000436607:p.Ala173Val	NA	B2R793|D3DQV3|Q6FGW2	37	CCDS7801.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.197914	0.58126	.	.	ENSG00000148926	ENST00000278175;ENST00000534464;ENST00000530439;ENST00000528655;ENST00000525063	T;T;T;T;T	0.56275	1.06;1.01;0.47;1.06;1.06	5.21	1.66	0.24008	.	0.488207	0.24267	N	0.040036	T	0.27063	0.0663	N	0.08118	0	0.18873	N	0.999985	B	0.09022	0.002	B	0.12156	0.007	T	0.13150	-1.0520	10	0.33940	T	0.23	-2.2324	6.4641	0.21971	0.0:0.6484:0.1456:0.206	.	173	P35318	ADML_HUMAN	V	173;126;105;173;173	ENSP00000278175:A173V;ENSP00000431438:A126V;ENSP00000436837:A105V;ENSP00000436607:A173V;ENSP00000435124:A173V	ENSP00000278175:A173V	A	+	2	0	ADM	10284724	0.002000	0.14202	0.000000	0.03702	0.025000	0.11179	0.996000	0.29719	0.644000	0.30656	0.561000	0.74099	GCT	ADM-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387008.1		+	ENST00000528655.1	Missense_Mutation	SNP	11 : 10328148 - 10328148 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	297	51
FBXO42	54455	broad.mit.edu	37	1	16641844	16641844	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16641844C>T	ENST00000375592.3	-	2	286	c.70G>A	c.(70-72)Ggg>Agg	p.G24R	FBXO42_ENST00000478089.1_5'UTR	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	24										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TCCATTGTCCCTTCCAGCACA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	92	99			NA	NA	1		NA											NA				16641844		2203	4300	6503	SO:0001583	missense			BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637	54455	54455		F-boxes /  other	29249	protein-coding gene	gene with protein product		609109			NA	10718198	Standard		XM_006710698	NA	Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.70G>A	1.37:g.16641844C>T	ENSP00000364742:p.Gly24Arg	NA	B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	37	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088870	0.76756	.	.	ENSG00000037637	ENST00000375592	T	0.05025	3.51	5.81	5.81	0.92471	.	0.197049	0.45867	D	0.000332	T	0.15609	0.0376	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.03344	-1.1046	10	0.66056	D	0.02	-15.7317	19.0543	0.93056	0.0:1.0:0.0:0.0	.	24	Q6P3S6	FBX42_HUMAN	R	24	ENSP00000364742:G24R	ENSP00000364742:G24R	G	-	1	0	FBXO42	16514431	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.622000	0.74233	2.739000	0.93911	0.563000	0.77884	GGG	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006285.1		-	ENST00000375592.3	Missense_Mutation	SNP	1 : 16641844 - 16641844 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	242	20
PARP11	57097	broad.mit.edu	37	12	3931121	3931121	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3931121G>T	ENST00000228820.4	-	6	610	c.466C>A	c.(466-468)Ctc>Atc	p.L156I	PARP11_ENST00000397096.2_Missense_Mutation_p.L149I|PARP11_ENST00000427057.2_Missense_Mutation_p.L75I|PARP11_ENST00000476985.1_5'UTR|PARP11_ENST00000447133.3_Missense_Mutation_p.L75I	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	149	PARP catalytic.						NAD+ ADP-ribosyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			TTCCCAAAGAGATTAGCAACT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	91	89			NA	NA	12		NA											NA				3931121		2203	4300	6503	SO:0001583	missense			AF263540	CCDS8523.2, CCDS66281.1	12p13.3	2014-01-28	2004-08-25	2004-08-26	ENSG00000111224	ENSG00000111224	57097	57097		Poly (ADP-ribose) polymerases	1186	protein-coding gene	gene with protein product			chromosome 12 open reading frame 6	C12orf6	NA	15273990	Standard		NM_001286522	NA	Approved		uc001qml.2	Q9NR21	OTTHUMG00000156442	ENST00000228820.4:c.466C>A	12.37:g.3931121G>T	ENSP00000228820:p.Leu156Ile	NA	B4DRQ0|Q68DS1|Q8N5Y9	37	CCDS8523.2	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027327	0.54683	.	.	ENSG00000111224	ENST00000397096;ENST00000427057;ENST00000228820;ENST00000447133	T;T;T;T	0.15952	2.38;2.38;2.38;2.38	5.29	5.29	0.74685	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.068839	0.64402	D	0.000013	T	0.19604	0.0471	L	0.47716	1.5	0.43330	D	0.995366	P;P;P	0.44946	0.846;0.557;0.611	B;B;B	0.43658	0.426;0.295;0.419	T	0.01805	-1.1270	10	0.18710	T	0.47	.	16.457	0.84021	0.0:0.0:1.0:0.0	.	75;156;149	Q9NR21-2;Q9NR21-4;Q9NR21	.;.;PAR11_HUMAN	I	149;75;156;75	ENSP00000380284:L149I;ENSP00000397058:L75I;ENSP00000228820:L156I;ENSP00000405385:L75I	ENSP00000228820:L156I	L	-	1	0	PARP11	3801382	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	4.917000	0.63369	2.740000	0.93945	0.637000	0.83480	CTC	PARP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344213.1		-	ENST00000228820.4	Missense_Mutation	SNP	12 : 3931121 - 3931121 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	430	85
KCNN1	3780	broad.mit.edu	37	19	18092875	18092875	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18092875C>A	ENST00000222249.9	+	5	1175	c.856C>A	c.(856-858)Ctg>Atg	p.L286M		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	NA					synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						CGGCACCGTGCTGCTGGTCTT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	30	34			NA	NA	19		NA											NA				18092875		2203	4300	6503	SO:0001583	missense			U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642	3780	3780		Potassium channels, Voltage-gated ion channels / Potassium channels, calcium-activated	6290	protein-coding gene	gene with protein product		602982			NA	8781233, 10516439, 16382103	Standard	NM_002248	NM_002248	NA	Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.856C>A	19.37:g.18092875C>A	ENSP00000476519:p.Leu286Met	NA	Q5KR10|Q6DJU4	37		.	.	.	.	.	.	.	.	.	.	C	18.71	3.681795	0.68042	.	.	ENSG00000105642	ENST00000222249;ENST00000536713	.	.	.	5.11	2.88	0.33553	.	0.000000	0.64402	D	0.000007	T	0.78648	0.4316	M	0.88704	2.975	0.46203	D	0.998929	D	0.89917	1.0	D	0.80764	0.994	T	0.79831	-0.1637	9	0.87932	D	0	-15.4501	8.0594	0.30625	0.0:0.7347:0.0:0.2653	.	286	Q92952	KCNN1_HUMAN	M	303;286	.	ENSP00000222249:L303M	L	+	1	2	KCNN1	17953875	0.995000	0.38212	1.000000	0.80357	0.934000	0.57294	3.218000	0.51192	1.117000	0.41842	0.561000	0.74099	CTG	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000471896.2		+	ENST00000222249.9	Missense_Mutation	SNP	19 : 18092875 - 18092875 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	56	14
VIPR2	7434	broad.mit.edu	37	7	158851209	158851209	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158851209A>G	ENST00000262178.2	-	5	603	c.418T>C	c.(418-420)Tct>Cct	p.S140P	VIPR2_ENST00000377633.3_Missense_Mutation_p.S124P|VIPR2_ENST00000402066.1_Missense_Mutation_p.S281P	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	140					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		GTTGCAAGAGACATCAGAGAG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(154;1876 1931 2329 17914 20079)							NA				0													169	163	165			NA	NA	7		NA											NA				158851209		2203	4300	6503	SO:0001583	missense			CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018	7434	7434		GPCR / Class B : VIP and PACAP (ADCYAP1) receptors	12695	protein-coding gene	gene with protein product	VIP and PACAP receptor 2	601970			NA	7811244	Standard	NM_003382	NM_003382	NA	Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.418T>C	7.37:g.158851209A>G	ENSP00000262178:p.Ser140Pro	NA	Q13053|Q15870|Q53Y09|Q9UCW0	37	CCDS5950.1	.	.	.	.	.	.	.	.	.	.	a	20.8	4.050923	0.75960	.	.	ENSG00000106018	ENST00000262178;ENST00000377633;ENST00000402066	T;T;T	0.37915	1.17;1.17;1.17	5.7	4.59	0.56863	GPCR, family 2-like (1);	0.122369	0.36066	N	0.002805	T	0.49047	0.1534	M	0.89968	3.075	0.80722	D	1	P	0.45078	0.85	P	0.45506	0.483	T	0.57974	-0.7718	9	.	.	.	.	8.8834	0.35389	0.7551:0.2449:0.0:0.0	.	140	P41587	VIPR2_HUMAN	P	140;124;281	ENSP00000262178:S140P;ENSP00000366860:S124P;ENSP00000384497:S281P	.	S	-	1	0	VIPR2	158543970	1.000000	0.71417	0.957000	0.39632	0.989000	0.77384	2.922000	0.48860	2.175000	0.68902	0.529000	0.55759	TCT	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322675.1		-	ENST00000262178.2	Missense_Mutation	SNP	7 : 158851209 - 158851209 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	780	119
AC012123.1	0	broad.mit.edu	37	18	30350152	30350152	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:30350152G>T	ENST00000426194.1	+	1	173				KLHL14_ENST00000358095.4_Missense_Mutation_p.L135M|KLHL14_ENST00000359358.4_Missense_Mutation_p.L135M						NA											NA						ACCAGGCGCAGCCCGATGGAC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	96	95			NA	NA	18		NA											NA				30350152		2203	4300	6503	SO:0001627	intron_variant											NA	NA			NA							NA					NA						ENST00000426194.1:c.158+222G>T	18.37:g.30350152G>T		NA		37		.	.	.	.	.	.	.	.	.	.	G	5.630	0.300870	0.10678	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	T;T	0.70749	-0.51;-0.51	4.67	2.86	0.33363	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000003	T	0.52041	0.1710	N	0.25286	0.73	0.47698	D	0.999492	B	0.17268	0.021	B	0.25291	0.059	T	0.37979	-0.9682	10	0.41790	T	0.15	.	4.3797	0.11288	0.2583:0.0:0.5843:0.1574	.	135	Q9P2G3	KLH14_HUMAN	M	135	ENSP00000352314:L135M;ENSP00000350808:L135M	ENSP00000350808:L135M	L	-	1	2	KLHL14	28604150	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.664000	0.54525	0.403000	0.25479	-0.384000	0.06662	CTG	AC012123.1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000336609.2		+	ENST00000426194.1	Intron	SNP	18 : 30350152 - 30350152 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	742	158
BBS12	166379	broad.mit.edu	37	4	123664001	123664001	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123664001C>T	ENST00000314218.3	+	2	1147	c.954C>T	c.(952-954)tgC>tgT	p.C318C	BBS12_ENST00000542236.1_Silent_p.C318C	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	318					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						TTTTCACTTGCTGTCTACCAG	0.378		NA							Bardet-Biedl syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	70	74			NA	NA	4		NA											NA				123664001		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004	166379	166379		Heat Shock Proteins / Chaperonins	26648	protein-coding gene	gene with protein product		610683	chromosome 4 open reading frame 24	C4orf24	NA	17160889	Standard	NM_152618	NM_001178007	NA	Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.954C>T	4.37:g.123664001C>T		NA	D3DNX5|Q7Z342|Q7Z482|Q8NAB8	37	CCDS3728.1																																																																																			BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256710.1		+	ENST00000314218.3	Silent	SNP	4 : 123664001 - 123664001 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	147	27
CD2	914	broad.mit.edu	37	1	117297122	117297122	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117297122T>G	ENST00000369478.3	+	1	116	c.8T>G	c.(7-9)tTt>tGt	p.F3C	CD2_ENST00000369477.1_Missense_Mutation_p.F3C	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	3					blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	AAGATGAGCTTTCCATGTAAA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(14;263 555 26380 43512 51332)							NA				0													122	114	117			NA	NA	1		NA											NA				117297122		2203	4300	6503	SO:0001583	missense			BC033583	CCDS889.1	1p13	2013-01-11	2006-03-28		ENSG00000116824	ENSG00000116824	914	914		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing	1639	protein-coding gene	gene with protein product		186990	CD2 antigen (p50), sheep red blood cell receptor	SRBC	NA	2437578	Standard	NM_001767	NM_001767	NA	Approved		uc001egu.4	P06729	OTTHUMG00000022750	ENST00000369478.3:c.8T>G	1.37:g.117297122T>G	ENSP00000358490:p.Phe3Cys	NA	Q96TE5	37	CCDS889.1	.	.	.	.	.	.	.	.	.	.	T	4.663	0.123267	0.08931	.	.	ENSG00000116824	ENST00000369478;ENST00000369477	D	0.84589	-1.87	3.87	2.71	0.32032	.	0.941043	0.08871	N	0.881570	T	0.57315	0.2045	N	0.08118	0	0.09310	N	1	P;P;P	0.51653	0.79;0.947;0.947	B;B;B	0.44044	0.275;0.436;0.439	T	0.55392	-0.8148	10	0.87932	D	0	-4.8105	6.512	0.22226	0.215:0.0:0.0:0.785	.	3;3;3	B4E0G3;B4DVN2;P06729	.;.;CD2_HUMAN	C	3	ENSP00000358490:F3C	ENSP00000358489:F3C	F	+	2	0	CD2	117098645	0.009000	0.17119	0.001000	0.08648	0.002000	0.02628	1.691000	0.37721	0.624000	0.30286	0.460000	0.39030	TTT	CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059039.2		+	ENST00000369478.3	Missense_Mutation	SNP	1 : 117297122 - 117297122 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	464	90
TRIO	7204	broad.mit.edu	37	5	14336786	14336786	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14336786C>T	ENST00000344204.4	+	11	2020	c.1996C>T	c.(1996-1998)Cga>Tga	p.R666*	TRIO_ENST00000509967.2_Nonsense_Mutation_p.R617*|TRIO_ENST00000537187.1_Nonsense_Mutation_p.R666*	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	666					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TGTTGAGCAGCGAAAGATCCT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	89	94			NA	NA	5		NA											NA				14336786		2203	4300	6503	SO:0001587	stop_gained			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382	7204	7204		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing	12303	protein-coding gene	gene with protein product		601893	triple functional domain (PTPRF interacting)		NA	8643598	Standard	NM_007118	NM_007118	NA	Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.1996C>T	5.37:g.14336786C>T	ENSP00000339299:p.Arg666*	NA	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	37	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	40	8.039053	0.98624	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	.	.	.	5.46	4.56	0.56223	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4675	0.61263	0.303:0.697:0.0:0.0	.	.	.	.	X	666;666;617;353	.	ENSP00000339299:R666X	R	+	1	2	TRIO	14389786	1.000000	0.71417	0.775000	0.31657	0.959000	0.62525	3.196000	0.51020	1.211000	0.43351	0.650000	0.86243	CGA	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253711.2		+	ENST00000344204.4	Nonsense_Mutation	SNP	5 : 14336786 - 14336786 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	307	42
KRT34	3885	broad.mit.edu	37	17	39538461	39538461	+	Missense_Mutation	SNP	C	C	T	rs139913573		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39538461C>T	ENST00000394001.1	-	1	194	c.164G>A	c.(163-165)cGc>cAc	p.R55H		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	55	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity	p.R55H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				GCAGCTGGTGCGGCAGCCCAG	0.627		NA											c	1	5e-04	NA	NA	2184	0.0017	0.9999	,	,	NA	2e-04	NA	NA	NA	4e-04	0.8999	EXOME	NA	NA	4e-04	SNP								NA				1	Substitution - Missense(1)	lung(1)						C	HIS/ARG	0,4406		0,0,2203	50	48	49		164	1.2	1	17	dbSNP_134	49	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT34	NM_021013.3	29	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign	55/437	39538461	1,13005	2203	4300	6503	SO:0001583	missense			Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737	3885	3885		-, Intermediate filaments type I, keratins (acidic)	6452	protein-coding gene	gene with protein product	hard keratin type I 4	602763	keratin, hair, acidic, 4	KRTHA4	NA	2431943, 9756910, 16831889	Standard	NM_021013	NM_021013	NA	Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.164G>A	17.37:g.39538461C>T	ENSP00000377570:p.Arg55His	NA	Q8IUT8|Q8N4W2	37	CCDS11390.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	13.27	2.188524	0.38609	0.0	1.16E-4	ENSG00000131737	ENST00000394001;ENST00000251648	.	.	.	5.87	1.16	0.20824	.	0.094893	0.47455	N	0.000233	T	0.33847	0.0877	L	0.32530	0.975	0.27611	N	0.948664	B	0.17667	0.023	B	0.09377	0.004	T	0.27739	-1.0065	9	0.45353	T	0.12	.	11.1857	0.48655	0.0:0.6975:0.0:0.3025	.	55	O76011	KRT34_HUMAN	H	13;55	.	ENSP00000251648:R55H	R	-	2	0	KRT34	36791987	0.003000	0.15002	1.000000	0.80357	0.929000	0.56500	-0.074000	0.11450	0.402000	0.25451	-0.251000	0.11542	CGC	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257304.3		-	ENST00000394001.1	Missense_Mutation	SNP	17 : 39538461 - 39538461 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	504	92
IRF8	3394	broad.mit.edu	37	16	85954818	85954818	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85954818G>A	ENST00000268638.5	+	9	1633	c.1211G>A	c.(1210-1212)cGg>cAg	p.R404Q	IRF8_ENST00000562492.1_Missense_Mutation_p.R200Q	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	404					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				CAGGTCTTCCGGATGTTTCCA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	68	66			NA	NA	16		NA											NA				85954818		2198	4300	6498	SO:0001583	missense			M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968	3394	3394			5358	protein-coding gene	gene with protein product		601565	interferon consensus sequence binding protein 1	ICSBP1	NA	1460054, 11997525	Standard	NM_002163	NM_002163	NA	Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.1211G>A	16.37:g.85954818G>A	ENSP00000268638:p.Arg404Gln	NA	A0AV82	37	CCDS10956.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604648	0.87157	.	.	ENSG00000140968	ENST00000268638	D	0.95171	-3.63	5.63	5.63	0.86233	SMAD domain-like (1);SMAD/FHA domain (1);	0.108661	0.64402	D	0.000009	D	0.91801	0.7406	L	0.32530	0.975	0.45390	D	0.998373	D	0.55605	0.972	B	0.42522	0.39	D	0.92082	0.5673	10	0.49607	T	0.09	-44.2873	19.6783	0.95946	0.0:0.0:1.0:0.0	.	404	Q02556	IRF8_HUMAN	Q	404	ENSP00000268638:R404Q	ENSP00000268638:R404Q	R	+	2	0	IRF8	84512319	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	6.305000	0.72805	2.655000	0.90218	0.555000	0.69702	CGG	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269100.2		+	ENST00000268638.5	Missense_Mutation	SNP	16 : 85954818 - 85954818 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	671	172
RP11-831H9.11	0	broad.mit.edu	37	11	62417472	62417472	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62417472C>A	ENST00000528405.1	-	4	271		c.e4-1		INTS5_ENST00000330574.2_Splice_Site						NA											NA						CTCCTGAGCACTACAAGGAAG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	46	45			NA	NA	11		NA											NA				62417472		2202	4298	6500	SO:0001630	splice_region_variant											NA	NA			NA							NA					NA						ENST00000528405.1:c.263-1G>T	11.37:g.62417472C>A		NA		37		.	.	.	.	.	.	.	.	.	.	C	18.48	3.634124	0.67130	.	.	ENSG00000185085;ENSG00000255432	ENST00000330574;ENST00000528405	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.158	0.81680	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	INTS5;RP11-831H9.11	62174048	1.000000	0.71417	0.998000	0.56505	0.914000	0.54420	7.305000	0.78891	2.403000	0.81681	0.561000	0.74099	.	RP11-831H9.11-001	PUTATIVE	basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000395328.1	Intron	-	ENST00000528405.1	Splice_Site	SNP	11 : 62417472 - 62417472 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	232	47
CALHM1	255022	broad.mit.edu	37	10	105218206	105218206	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105218206G>T	ENST00000329905.5	-	1	439	c.303C>A	c.(301-303)tgC>tgA	p.C101*	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	101						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						GGGCCATGGAGCAGAACATGT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	34	33			NA	NA	10		NA											NA				105218206		2203	4298	6501	SO:0001587	stop_gained			BC036208	CCDS7550.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000185933	ENSG00000185933	255022	255022			23494	protein-coding gene	gene with protein product		612234	family with sequence similarity 26, member C	FAM26C	NA	18585350	Standard	NM_001001412	NM_001001412	NA	Approved		uc001kxe.2	Q8IU99	OTTHUMG00000018991	ENST00000329905.5:c.303C>A	10.37:g.105218206G>T	ENSP00000329926:p.Cys101*	NA	Q5W091	37	CCDS7550.1	.	.	.	.	.	.	.	.	.	.	G	36	5.642628	0.96704	.	.	ENSG00000185933	ENST00000329905	.	.	.	5.38	1.36	0.22044	.	0.102535	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-40.3187	9.1978	0.37240	0.4035:0.0:0.5965:0.0	.	.	.	.	X	101	.	ENSP00000329926:C101X	C	-	3	2	CALHM1	105208196	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.880000	0.28159	0.407000	0.25591	0.491000	0.48974	TGC	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050165.1		-	ENST00000329905.5	Nonsense_Mutation	SNP	10 : 105218206 - 105218206 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	299	55
THBS1	7057	broad.mit.edu	37	15	39885650	39885650	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:39885650C>T	ENST00000260356.5	+	19	3213	c.3048C>T	c.(3046-3048)acC>acT	p.T1016T		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1016	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TCATCAACACCGAAAGGGACG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													209	212	211			NA	NA	15		NA											NA				39885650		2200	4297	6497	SO:0001819	synonymous_variant				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801	7057	7057			11785	protein-coding gene	gene with protein product	thrombospondin-1p180	188060			NA	2341158, 2335352	Standard	NM_003246	NM_003246	NA	Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.3048C>T	15.37:g.39885650C>T		NA	A8K6H4|B9EGH6|Q15667	37	CCDS32194.1																																																																																			THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257831.2		+	ENST00000260356.5	Silent	SNP	15 : 39885650 - 39885650 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1487	244
SEMA4C	54910	broad.mit.edu	37	2	97529765	97529765	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97529765G>A	ENST00000305476.5	-	11	1360	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	410	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	p.R410C(1)		NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						AGCAGGGGGCGGCTCCACCGA	0.617		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)											38	42	40			NA	NA	2		NA											NA				97529765		2203	4300	6503	SO:0001583	missense			AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758	54910	54910		Semaphorins, Immunoglobulin superfamily / Immunoglobulin-like domain containing	10731	protein-coding gene	gene with protein product	M-Sema F	604462		SEMAI	NA	7656991	Standard	NM_017789	NM_017789	NA	Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.1228C>T	2.37:g.97529765G>A	ENSP00000306844:p.Arg410Cys	NA	Q32MJ3|Q7Z5X0	37	CCDS2029.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528016	0.85706	.	.	ENSG00000168758	ENST00000305476	T	0.34072	1.38	5.65	5.65	0.86999	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.106709	0.64402	D	0.000004	T	0.67515	0.2901	M	0.90870	3.155	0.80722	D	1	D;D	0.76494	0.999;0.99	D;D	0.63283	0.913;0.913	T	0.75328	-0.3356	10	0.87932	D	0	.	18.4976	0.90870	0.0:0.0:1.0:0.0	.	410;120	Q9C0C4;Q6P5A5	SEM4C_HUMAN;.	C	410	ENSP00000306844:R410C	ENSP00000306844:R410C	R	-	1	0	SEMA4C	96893492	0.599000	0.26891	1.000000	0.80357	0.981000	0.71138	2.829000	0.48128	2.667000	0.90743	0.561000	0.74099	CGC	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252957.1		-	ENST00000305476.5	Missense_Mutation	SNP	2 : 97529765 - 97529765 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	235	38
DYNC1I1	1780	broad.mit.edu	37	7	95657489	95657489	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:95657489C>A	ENST00000324972.6	+	11	1216	c.1023C>A	c.(1021-1023)tcC>tcA	p.S341S	DYNC1I1_ENST00000437599.1_Silent_p.S321S|DYNC1I1_ENST00000457059.1_Silent_p.S324S|DYNC1I1_ENST00000447467.2_Silent_p.S324S|DYNC1I1_ENST00000537881.1_Silent_p.S304S|DYNC1I1_ENST00000359388.4_Silent_p.S304S	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	341					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CCTGACAGTCCTCTGTGATGT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													219	198	205			NA	NA	7		NA											NA				95657489		2203	4300	6503	SO:0001819	synonymous_variant			AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560	1780	1780		Cytoplasmic dyneins, WD repeat domain containing	2963	protein-coding gene	gene with protein product		603772	dynein, cytoplasmic, intermediate polypeptide 1	DNCI1	NA	10049579, 16260502	Standard	NM_004411	NM_004411	NA	Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1023C>A	7.37:g.95657489C>A		NA	Q9Y2X1	37	CCDS5644.1																																																																																			DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333432.1		+	ENST00000324972.6	Silent	SNP	7 : 95657489 - 95657489 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1110	207
SLC25A41	284427	broad.mit.edu	37	19	6426528	6426528	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6426528G>A	ENST00000321510.6	-	7	1053	c.985C>T	c.(985-987)Cgg>Tgg	p.R329W		NM_173637.3	NP_775908.2	Q8N5S1	S2541_HUMAN	solute carrier family 25, member 41	329					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						GCCAGGATCCGCTGGAGGACT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG	0,4102		0,0,2051	76	78	78		985	-9.2	0	19		78	1,8381		0,1,4190	yes	missense	SLC25A41	NM_173637.3	101	0,1,6241	AA,AG,GG	NA	0.0119,0.0,0.0080	possibly-damaging	329/371	6426528	1,12483	2051	4191	6242	SO:0001583	missense			AK097761	CCDS45937.1	19p13.3	2013-05-22			ENSG00000181240	ENSG00000181240	284427	284427		Solute carriers	28533	protein-coding gene	gene with protein product		610822			NA	16949250	Standard	NM_173637	NM_173637	NA	Approved	FLJ40442, MGC34725, APC4	uc010dus.3	Q8N5S1		ENST00000321510.6:c.985C>T	19.37:g.6426528G>A	ENSP00000322649:p.Arg329Trp	NA	A8MQ40|D6W642|Q8N7R4	37	CCDS45937.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.221956	0.39300	0.0	1.19E-4	ENSG00000181240	ENST00000321510	T	0.80033	-1.33	4.59	-9.17	0.00691	Mitochondrial carrier domain (2);	.	.	.	.	T	0.80523	0.4639	M	0.65498	2.005	0.09310	N	0.999994	D	0.61080	0.989	P	0.55303	0.773	T	0.78226	-0.2286	9	0.72032	D	0.01	-3.5865	8.0935	0.30813	0.0643:0.0784:0.2695:0.5878	.	329	Q8N5S1	S2541_HUMAN	W	329	ENSP00000322649:R329W	ENSP00000322649:R329W	R	-	1	2	SLC25A41	6377528	0.001000	0.12720	0.000000	0.03702	0.186000	0.23388	-0.176000	0.09811	-1.904000	0.01092	-0.457000	0.05445	CGG	SLC25A41-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462222.1		-	ENST00000321510.6	Missense_Mutation	SNP	19 : 6426528 - 6426528 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	530	107
GPR21	2844	broad.mit.edu	37	9	125797524	125797524	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125797524G>A	ENST00000373642.1	+	1	719	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000493854.1_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	227						integral to plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						GGATATCAGCGAAAGGCAAGC	0.512		NA											g	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	4e-04	0.95	EXOME	NA	NA	7e-04	SNP								NA				0													121	116	118			NA	NA	9		NA											NA				125797524		2203	4300	6503	SO:0001583	missense			BC066885	CCDS6849.1	9q33	2012-08-21			ENSG00000188394	ENSG00000188394	2844	2844		GPCR / Class A : Orphans	4476	protein-coding gene	gene with protein product		601909			NA		Standard	NM_005294	NM_005294	NA	Approved		uc011lzk.3	Q99679	OTTHUMG00000020631	ENST00000373642.1:c.679G>A	9.37:g.125797524G>A	ENSP00000362746:p.Glu227Lys	NA	B2R8W9|Q6NXU2	37	CCDS6849.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	0.383	-0.927655	0.02377	.	.	ENSG00000188394	ENST00000373642;ENST00000412269	T	0.37058	1.22	5.67	2.89	0.33648	GPCR, rhodopsin-like superfamily (1);	0.157646	0.38605	N	0.001629	T	0.21550	0.0519	L	0.28556	0.865	0.80722	D	1	P	0.40660	0.726	B	0.38655	0.278	T	0.08617	-1.0713	10	0.02654	T	1	-1.093	11.394	0.49830	0.1967:0.0:0.8033:0.0	.	227	Q99679	GPR21_HUMAN	K	227	ENSP00000362746:E227K	ENSP00000362746:E227K	E	+	1	0	GPR21	124837345	1.000000	0.71417	0.999000	0.59377	0.706000	0.40770	3.264000	0.51553	0.358000	0.24211	-1.399000	0.01144	GAA	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053965.1		+	ENST00000373642.1	Missense_Mutation	SNP	9 : 125797524 - 125797524 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	756	146
PRMT7	54496	broad.mit.edu	37	16	68387411	68387411	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68387411G>A	ENST00000339507.5	+	16	2422	c.1592G>A	c.(1591-1593)cGg>cAg	p.R531Q	PRMT7_ENST00000449359.3_Missense_Mutation_p.R481Q|PRMT7_ENST00000348497.4_Missense_Mutation_p.R383Q|PRMT7_ENST00000441236.1_Missense_Mutation_p.R481Q			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	531					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		TGGCGGATCCGGAGCCCCTGT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	71	75			NA	NA	16		NA											NA				68387411		2198	4300	6498	SO:0001583	missense			AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600	54496	54496		Protein arginine methyltransferases	25557	protein-coding gene	gene with protein product		610087			NA	15044439	Standard	NM_019023	NM_001184824	NA	Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.1592G>A	16.37:g.68387411G>A	ENSP00000343103:p.Arg531Gln	NA	B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	37	CCDS10866.1	.	.	.	.	.	.	.	.	.	.	G	36	5.897583	0.97081	.	.	ENSG00000132600	ENST00000449359;ENST00000441236;ENST00000348497;ENST00000339507	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.55226	0.1907	M	0.83774	2.66	0.33124	D	0.542121	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.85130	0.966;0.997;0.91	T	0.67090	-0.5758	10	0.54805	T	0.06	-30.2729	15.8933	0.79318	0.0:0.0:1.0:0.0	.	481;383;531	Q9NVM4-3;Q9NVM4-2;Q9NVM4	.;.;ANM7_HUMAN	Q	481;481;383;531	ENSP00000414716:R481Q;ENSP00000409324:R481Q;ENSP00000345775:R383Q;ENSP00000343103:R531Q	ENSP00000343103:R531Q	R	+	2	0	PRMT7	66944912	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	8.756000	0.91651	2.824000	0.97209	0.655000	0.94253	CGG	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268892.3		+	ENST00000339507.5	Missense_Mutation	SNP	16 : 68387411 - 68387411 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	456	20
TBC1D14	57533	broad.mit.edu	37	4	7008409	7008409	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7008409C>T	ENST00000410031.1	+	8	799	c.718C>T	c.(718-720)Ctg>Ttg	p.L240L	TBC1D14_ENST00000451522.2_Silent_p.L188L|TBC1D14_ENST00000409757.4_Silent_p.L468L|TBC1D14_ENST00000446947.2_Silent_p.L81L|TBC1D14_ENST00000448507.1_Silent_p.L468L			Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	468						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						GCTTATTAAACTGGACATTTC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	110	111			NA	NA	4		NA											NA				7008409		2203	4300	6503	SO:0001819	synonymous_variant			AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405	57533	57533			29246	protein-coding gene	gene with protein product		614855			NA	10718198	Standard	NM_020773	NM_020773	NA	Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000410031.1:c.718C>T	4.37:g.7008409C>T		NA	D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	37																																																																																				TBC1D14-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000326789.2		+	ENST00000410031.1	Silent	SNP	4 : 7008409 - 7008409 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	348	52
LRCH1	23143	broad.mit.edu	37	13	47255891	47255891	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:47255891G>A	ENST00000389797.3	+	4	732	c.595G>A	c.(595-597)Gag>Aag	p.E199K	LRCH1_ENST00000389798.3_Missense_Mutation_p.E199K|LRCH1_ENST00000311191.6_Missense_Mutation_p.E199K	NM_001164211.1	NP_001157683	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	199										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		CAGCTGCAACGAGATCACAGC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	69	70			NA	NA	13		NA											NA				47255891		2203	4300	6503	SO:0001583	missense			AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141	23143	23143			20309	protein-coding gene	gene with protein product		610368	calponin homology (CH) domain containing 1	CHDC1	NA	10231032	Standard	NM_015116	NM_015116	NA	Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389797.3:c.595G>A	13.37:g.47255891G>A	ENSP00000374447:p.Glu199Lys	NA	Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	37	CCDS53865.1	.	.	.	.	.	.	.	.	.	.	.	25.0	4.591442	0.86851	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	T;T;T	0.56444	0.46;0.46;0.46	5.58	5.58	0.84498	.	0.182364	0.49916	D	0.000131	T	0.44222	0.1283	N	0.04203	-0.255	0.58432	D	0.999997	P;D;P;B	0.64830	0.934;0.994;0.919;0.372	B;P;B;B	0.50970	0.446;0.655;0.318;0.168	T	0.56763	-0.7925	10	0.62326	D	0.03	-12.7124	18.6246	0.91333	0.0:0.0:1.0:0.0	.	199;199;199;199	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	K	199	ENSP00000308493:E199K;ENSP00000374448:E199K;ENSP00000374447:E199K	ENSP00000308493:E199K	E	+	1	0	LRCH1	46153892	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.167000	0.94773	2.645000	0.89757	0.538000	0.68166	GAG	LRCH1-004	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354618.1		+	ENST00000389797.3	Missense_Mutation	SNP	13 : 47255891 - 47255891 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	230	38
PDCD11	22984	broad.mit.edu	37	10	105172912	105172912	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105172912G>T	ENST00000369797.3	+	9	1112	c.1018G>T	c.(1018-1020)Gtt>Ttt	p.V340F		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	340	S1 motif 3.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TCGAACCAGAGTTGTGCACCT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	101	108			NA	NA	10		NA											NA				105172912		2203	4300	6503	SO:0001583	missense			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843	22984	22984			13408	protein-coding gene	gene with protein product		612333			NA	10229231	Standard		XM_005269647	NA	Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.1018G>T	10.37:g.105172912G>T	ENSP00000358812:p.Val340Phe	NA	Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	37	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245882	0.39697	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.17691	2.26	5.47	2.35	0.29111	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (1);	1.035590	0.07544	N	0.914350	T	0.14874	0.0359	L	0.40543	1.245	0.19300	N	0.99998	B	0.32939	0.391	B	0.31390	0.129	T	0.25606	-1.0127	10	0.54805	T	0.06	0.4907	7.2346	0.26062	0.1581:0.0:0.6925:0.1493	.	340	Q14690	RRP5_HUMAN	F	340	ENSP00000358812:V340F	ENSP00000358812:V340F	V	+	1	0	PDCD11	105162902	0.988000	0.35896	0.845000	0.33349	0.961000	0.63080	2.276000	0.43408	1.313000	0.45069	0.467000	0.42956	GTT	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050151.1		+	ENST00000369797.3	Missense_Mutation	SNP	10 : 105172912 - 105172912 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	461	44
SLC34A2	10568	broad.mit.edu	37	4	25678182	25678182	+	Silent	SNP	G	G	A	rs141191689	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25678182G>A	ENST00000382051.3	+	13	1934	c.1884G>A	c.(1882-1884)gcG>gcA	p.A628A	SLC34A2_ENST00000504570.1_Silent_p.A627A|SLC34A2_ENST00000503434.1_Silent_p.A627A	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	628	Cys-rich.				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				gctgccgcgcgtgctgcttgc	0.657		NA	T	ROS1	NSCLC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		4	4p15.2	10568	solute carrier family 34 (sodium phosphate), member 2		E	0													28	29	29			NA	NA	4		NA											NA				25678182		2203	4300	6503	SO:0001819	synonymous_variant			AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765	10568	10568		Solute carriers	11020	protein-coding gene	gene with protein product		604217	solute carrier family 34 (sodium phosphate), member 2		NA	10329428, 10610722	Standard	NM_006424	NM_006424	NA	Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1884G>A	4.37:g.25678182G>A		NA	A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	37	CCDS3435.1																																																																																			SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214990.1		+	ENST00000382051.3	Silent	SNP	4 : 25678182 - 25678182 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	311	53
TINAG	27283	broad.mit.edu	37	6	54219400	54219400	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54219400C>T	ENST00000259782.4	+	9	1312	c.1216C>T	c.(1216-1218)Cga>Tga	p.R406*		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	406					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			AGAAAAATATCGAAAGCTTCA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	69	69			NA	NA	6		NA											NA				54219400		2202	4298	6500	SO:0001587	stop_gained			AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251	27283	27283			14599	protein-coding gene	gene with protein product		606749			NA	10652240	Standard	NM_014464	NM_014464	NA	Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.1216C>T	6.37:g.54219400C>T	ENSP00000259782:p.Arg406*	NA	Q5T467|Q9UJW1|Q9ULZ4	37	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	C	38	7.097332	0.98063	.	.	ENSG00000137251	ENST00000339741;ENST00000259782;ENST00000370865	.	.	.	5.54	2.25	0.28309	.	0.986368	0.08253	N	0.974253	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8905	0.58069	0.4987:0.5013:0.0:0.0	.	.	.	.	X	265;406;85	.	ENSP00000259782:R406X	R	+	1	2	TINAG	54327359	0.865000	0.29922	0.033000	0.17914	0.653000	0.38743	1.940000	0.40223	0.616000	0.30141	0.655000	0.94253	CGA	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040984.1		+	ENST00000259782.4	Nonsense_Mutation	SNP	6 : 54219400 - 54219400 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	310	63
E2F8	79733	broad.mit.edu	37	11	19259489	19259489	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:19259489G>A	ENST00000527884.1	-	3	438	c.206C>T	c.(205-207)gCt>gTt	p.A69V	E2F8_ENST00000250024.4_Missense_Mutation_p.A69V|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	69					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGGCTCACAGCACTGATGAG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													195	200	198			NA	NA	11		NA											NA				19259489		2199	4293	6492	SO:0001583	missense				CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173	79733	79733			24727	protein-coding gene	gene with protein product		612047			NA	15722552	Standard	NM_024680	NM_024680	NA	Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.206C>T	11.37:g.19259489G>A	ENSP00000434199:p.Ala69Val	NA	A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	37	CCDS7849.1	.	.	.	.	.	.	.	.	.	.	G	34	5.408560	0.96051	.	.	ENSG00000129173	ENST00000527884;ENST00000531809;ENST00000396159;ENST00000250024;ENST00000532666	T;T;T	0.60672	0.87;0.87;0.17	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.75803	0.3899	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.77197	-0.2676	10	0.66056	D	0.02	-15.7278	19.0694	0.93126	0.0:0.0:1.0:0.0	.	69	A0AVK6	E2F8_HUMAN	V	69	ENSP00000434199:A69V;ENSP00000250024:A69V;ENSP00000437326:A69V	ENSP00000250024:A69V	A	-	2	0	E2F8	19216065	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	9.777000	0.99008	2.654000	0.90174	0.655000	0.94253	GCT	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387830.1		-	ENST00000527884.1	Missense_Mutation	SNP	11 : 19259489 - 19259489 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1148	221
PCDP1	0	broad.mit.edu	37	2	120397378	120397378	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120397378C>T	ENST00000413369.3	+	21	2242	c.2155C>T	c.(2155-2157)Cac>Tac	p.H719Y	PCDP1_ENST00000602047.1_Missense_Mutation_p.H433Y	NM_001271049.1	NP_001257978	Q4G0U5	PCDP1_HUMAN		719						cilium	calmodulin binding				NA	Colorectal(110;0.196)					CGGAATAATGCACTGGAAAAG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	89	89			NA	NA	2		NA											NA				120397378		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000413369.3:c.2155C>T	2.37:g.120397378C>T	ENSP00000393222:p.His719Tyr	NA	B4DEK0|B4E2T5	37	CCDS33282.2	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375058	0.24857	.	.	ENSG00000163075	ENST00000295220;ENST00000413369	T	0.13778	2.56	5.31	-2.63	0.06133	.	0.986712	0.08280	N	0.970138	T	0.07999	0.0200	N	0.14661	0.345	0.80722	D	1	P	0.45902	0.868	B	0.40134	0.32	T	0.37979	-0.9682	10	0.52906	T	0.07	-6.2867	9.6969	0.40163	0.7274:0.191:0.0:0.0816	.	719	Q4G0U5	PCDP1_HUMAN	Y	433;719	ENSP00000393222:H719Y	ENSP00000295220:H433Y	H	+	1	0	AC069154.2	120113848	0.747000	0.28283	0.977000	0.42913	0.208000	0.24298	-0.334000	0.07883	-0.266000	0.09339	0.655000	0.94253	CAC	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464236.1		+	ENST00000413369.3	Missense_Mutation	SNP	2 : 120397378 - 120397378 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	244	58
TRIM50	135892	broad.mit.edu	37	7	72734178	72734178	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72734178C>T	ENST00000333149.2	-	3	663	c.463G>A	c.(463-465)Gcc>Acc	p.A155T	TRIM50_ENST00000453152.1_Missense_Mutation_p.A155T	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	155						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						ACCAGTTTGGCGATGAGCTCA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													398	335	356			NA	NA	7		NA											NA				72734178		2203	4300	6503	SO:0001583	missense			AY081948	CCDS34654.1	7q11.23	2013-01-09	2011-01-25	2006-03-31	ENSG00000146755	ENSG00000146755	135892	135892		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	19017	protein-coding gene	gene with protein product		612548	tripartite motif-containing 50A, tripartite motif-containing 50	TRIM50A	NA		Standard	NM_178125	NM_001281450	NA	Approved	FLJ32804	uc003txy.1	Q86XT4	OTTHUMG00000156805	ENST00000333149.2:c.463G>A	7.37:g.72734178C>T	ENSP00000327994:p.Ala155Thr	NA	Q86XT3	37	CCDS34654.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581845	0.46006	.	.	ENSG00000146755	ENST00000333149;ENST00000453152	T;T	0.64260	-0.09;-0.09	4.14	2.14	0.27477	.	0.437004	0.20192	N	0.097285	T	0.36248	0.0960	N	0.14661	0.345	0.20926	N	0.99982	B;B	0.18461	0.028;0.016	B;B	0.10450	0.005;0.002	T	0.05852	-1.0860	10	0.35671	T	0.21	.	2.8872	0.05664	0.0:0.4802:0.2583:0.2615	.	155;155	Q86XT4-2;Q86XT4	.;TRI50_HUMAN	T	155	ENSP00000327994:A155T;ENSP00000413875:A155T	ENSP00000327994:A155T	A	-	1	0	TRIM50	72372114	0.814000	0.29104	0.973000	0.42090	0.966000	0.64601	1.180000	0.32005	2.042000	0.60477	0.485000	0.47835	GCC	TRIM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345925.1		-	ENST00000333149.2	Missense_Mutation	SNP	7 : 72734178 - 72734178 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1041	168
ZC3H12A	80149	broad.mit.edu	37	1	37948755	37948755	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:37948755C>T	ENST00000373087.6	+	6	1459	c.1343C>T	c.(1342-1344)tCg>tTg	p.S448L		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	448					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGCCAGATGTCGGAACTTTGG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	30	28			NA	NA	1		NA											NA				37948755		2203	4300	6503	SO:0001583	missense				CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874	80149	80149		Zinc fingers, CCCH-type domain containing	26259	protein-coding gene	gene with protein product	MCP induced protein 1	610562			NA	18178554, 22055188	Standard	NM_025079	NM_025079	NA	Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.1343C>T	1.37:g.37948755C>T	ENSP00000362179:p.Ser448Leu	NA	D3DPT0|Q6I9Z1|Q9H5P1	37	CCDS417.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320778	0.81469	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.20598	2.06	5.52	5.52	0.82312	.	0.603852	0.16474	N	0.212828	T	0.45816	0.1361	M	0.68952	2.095	0.39404	D	0.966641	D;D	0.71674	0.998;0.985	D;P	0.64877	0.93;0.456	T	0.41662	-0.9496	10	0.72032	D	0.01	-19.643	17.6306	0.88106	0.0:1.0:0.0:0.0	.	243;448	B3KSD3;Q5D1E8	.;ZC12A_HUMAN	L	448	ENSP00000362179:S448L	ENSP00000362174:S448L	S	+	2	0	ZC3H12A	37721342	0.974000	0.33945	1.000000	0.80357	0.950000	0.60333	2.423000	0.44705	2.579000	0.87056	0.561000	0.74099	TCG	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000012154.2		+	ENST00000373087.6	Missense_Mutation	SNP	1 : 37948755 - 37948755 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	360	69
APCDD1	147495	broad.mit.edu	37	18	10471563	10471563	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:10471563G>A	ENST00000355285.5	+	3	633	c.279G>A	c.(277-279)agG>agA	p.R93R	APCDD1_ENST00000578882.1_Silent_p.R93R	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	NA					hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		TCATCACAAGGTCCTACAGAT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	86	87			NA	NA	18		NA											NA				10471563		2203	4300	6503	SO:0001819	synonymous_variant			AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856	147495	147495			15718	protein-coding gene	gene with protein product		607479			NA	12384519	Standard	NM_153000	NM_153000	NA	Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.279G>A	18.37:g.10471563G>A		NA	B4DUQ0|B4DZT0|Q71M25	37	CCDS11849.1																																																																																			APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254529.2		+	ENST00000355285.5	Silent	SNP	18 : 10471563 - 10471563 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	62
PLCXD1	55344	broad.mit.edu	37	X	207360	207360	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:207360G>T	ENST00000381657.2	+	4	824	c.310G>T	c.(310-312)Gac>Tac	p.D104Y	PLCXD1_ENST00000381663.3_Missense_Mutation_p.D104Y|PLCXD1_ENST00000484611.2_3'UTR|PLCXD1_ENST00000399012.1_Missense_Mutation_p.D104Y	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	104	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process		phospholipase C activity			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCGGTACCTGGACCTGCGGAT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													218	185	196			NA	NA	X		NA											NA				207360		2203	4296	6499	SO:0001583	missense			AK002185	CCDS14103.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000182378	ENSG00000182378	55344	55344		Pseudoautosomal regions / PAR1	23148	protein-coding gene	gene with protein product					NA		Standard	NM_018390	NM_018390	NA	Approved	FLJ11323	uc004cpc.3	Q9NUJ7	OTTHUMG00000022693	ENST00000381657.2:c.310G>T	X.37:g.207360G>T	ENSP00000371073:p.Asp104Tyr	NA	A2BH51|A2BH52	37	CCDS14103.1	.	.	.	.	.	.	.	.	.	.	.	14.59	2.582150	0.46006	.	.	ENSG00000182378	ENST00000399012;ENST00000430923;ENST00000381657;ENST00000381663;ENST00000415337;ENST00000447472;ENST00000448477	T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	2.14	2.14	0.27477	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (2);	0.000000	0.85682	U	0.000000	T	0.78233	0.4251	.	.	.	0.09310	N	0.999994	D	0.89917	1.0	D	0.87578	0.998	T	0.67507	-0.5653	9	0.87932	D	0	.	9.9412	0.41580	0.0:0.0:1.0:0.0	.	104	Q9NUJ7	PLCX1_HUMAN	Y	104	ENSP00000381976:D104Y;ENSP00000394848:D104Y;ENSP00000371073:D104Y;ENSP00000371079:D104Y;ENSP00000399510:D104Y;ENSP00000405307:D104Y	ENSP00000371073:D104Y	D	+	1	0	PLCXD1	147360	1.000000	0.71417	0.996000	0.52242	0.673000	0.39480	5.465000	0.66725	0.876000	0.35872	0.398000	0.26397	GAC	PLCXD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058879.2		+	ENST00000381657.2	Missense_Mutation	SNP	X : 207360 - 207360 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	230	70
OR5B12	390191	broad.mit.edu	37	11	58207122	58207122	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58207122C>A	ENST00000302572.2	-	1	524	c.503G>T	c.(502-504)aGa>aTa	p.R168I		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TACATTGGATCTACAGAAGGA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	108	111			NA	NA	11		NA											NA				58207122		2201	4295	6496	SO:0001583	missense			AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362	390191	390191		GPCR / Class A : Olfactory receptors	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16	NA	12213199	Standard	NM_001004733	NM_001004733	NA	Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.503G>T	11.37:g.58207122C>A	ENSP00000306657:p.Arg168Ile	NA	B2RNL2|Q6IEV5	37	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	C	9.557	1.117468	0.20877	.	.	ENSG00000172362	ENST00000302572	T	0.37058	1.22	4.3	-0.761	0.11038	GPCR, rhodopsin-like superfamily (1);	0.743067	0.12175	N	0.492642	T	0.27731	0.0682	L	0.48362	1.52	0.09310	N	1	B	0.31077	0.307	B	0.32342	0.144	T	0.21965	-1.0230	10	0.46703	T	0.11	-24.6222	6.1961	0.20550	0.0:0.3526:0.1345:0.5129	.	168	Q96R08	OR5BC_HUMAN	I	168	ENSP00000306657:R168I	ENSP00000306657:R168I	R	-	2	0	OR5B12	57963698	0.000000	0.05858	0.005000	0.12908	0.704000	0.40688	-0.318000	0.08050	-0.009000	0.14296	0.462000	0.41574	AGA	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394987.1		-	ENST00000302572.2	Missense_Mutation	SNP	11 : 58207122 - 58207122 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	390	59
MAP2K4	6416	broad.mit.edu	37	17	11984701	11984701	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11984701T>G	ENST00000581941.1	+	0	222				MAP2K4_ENST00000353533.5_Missense_Mutation_p.S83A|MAP2K4_ENST00000415385.3_Missense_Mutation_p.S94A			P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	NA					cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|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	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		CAGCATTGAGTCATCAGGAAA	0.378		NA	D, Mis, N		pancreatic, breast, colorectal									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	11	Whole gene deletion(10)|Unknown(1)	ovary(4)|breast(4)|biliary_tract(1)|large_intestine(1)|pancreas(1)											82	78	79			NA	NA	17		NA											NA				11984701		2203	4300	6503	SO:0001624	3_prime_UTR_variant			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	6416	6416	2.7.12.2	Mitogen-activated protein kinase cascade / Kinase kinases	6844	protein-coding gene	gene with protein product		601335		SERK1	NA	7716521	Standard		NM_003010	NA	Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000581941.1:c.*219T>G	17.37:g.11984701T>G		NA	B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	37		.	.	.	.	.	.	.	.	.	.	T	14.57	2.573666	0.45902	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465	T;T	0.72505	-0.55;-0.66	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.69967	0.3170	M	0.64997	1.995	0.80722	D	1	B;B	0.26975	0.165;0.103	B;B	0.30855	0.121;0.023	T	0.70666	-0.4809	10	0.59425	D	0.04	.	14.456	0.67416	0.0:0.0:0.0:1.0	.	94;83	P45985-2;P45985	.;MP2K4_HUMAN	A	83;94;60	ENSP00000262445:S83A;ENSP00000410402:S94A	ENSP00000262445:S83A	S	+	1	0	MAP2K4	11925426	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.123000	0.65237	0.459000	0.35465	TCA	MAP2K4-003	KNOWN	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000441229.1		+	ENST00000581941.1	3'UTR	SNP	17 : 11984701 - 11984701 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	406	116
FBXO27	126433	broad.mit.edu	37	19	39517624	39517624	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39517624G>A	ENST00000292853.4	-	5	713	c.594C>T	c.(592-594)agC>agT	p.S198S	FBXO27_ENST00000509137.2_Silent_p.S198S|FBXO27_ENST00000600828.1_Silent_p.S197S	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	198	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			ACATACAGCCGCTGTCGTGTC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	118	120			NA	NA	19		NA											NA				39517624		2203	4300	6503	SO:0001819	synonymous_variant			AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243	126433	126433		F-boxes /  other	18753	protein-coding gene	gene with protein product		609099	F-box only protein 27		NA	126433	Standard		NM_178820	NA	Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.594C>T	19.37:g.39517624G>A		NA	Q96C87	37	CCDS12527.1																																																																																			FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463281.1		-	ENST00000292853.4	Silent	SNP	19 : 39517624 - 39517624 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	771	117
CNNM1	26507	broad.mit.edu	37	10	101151259	101151259	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101151259C>T	ENST00000356713.4	+	11	3131	c.2842C>T	c.(2842-2844)Cct>Tct	p.P948S	CNNM1_ENST00000370534.4_Missense_Mutation_p.P604S|CNNM1_ENST00000446890.1_Missense_Mutation_p.P877S|CNNM1_ENST00000370528.3_Missense_Mutation_p.P827S	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	948					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CAATTTAACACCTCTGATCAC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	81	83			NA	NA	10		NA											NA				101151259		2203	4300	6503	SO:0001583	missense			AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946	26507	26507			102	protein-coding gene	gene with protein product		607802	cyclin M1	ACDP1	NA	21393841	Standard	NM_020348	NM_020348	NA	Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.2842C>T	10.37:g.101151259C>T	ENSP00000349147:p.Pro948Ser	NA	Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	37	CCDS7478.2	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654267	0.47467	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528;ENST00000370534;ENST00000545665	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.79	5.79	0.91817	.	0.077331	0.53938	D	0.000056	T	0.64907	0.2641	N	0.19112	0.55	0.41761	D	0.989712	B;B;B	0.29862	0.084;0.094;0.259	B;B;B	0.25759	0.028;0.045;0.063	T	0.65639	-0.6119	10	0.52906	T	0.07	-11.6285	14.2188	0.65812	0.0:0.9288:0.0:0.0712	.	604;898;948	F5H5J0;Q9NRU3-2;Q9NRU3	.;.;CNNM1_HUMAN	S	948;877;827;604;401	ENSP00000349147:P948S;ENSP00000406492:P877S;ENSP00000359559:P827S;ENSP00000359565:P604S	ENSP00000349147:P948S	P	+	1	0	CNNM1	101141249	0.869000	0.29996	0.771000	0.31576	0.978000	0.69477	3.935000	0.56560	2.734000	0.93682	0.555000	0.69702	CCT	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049792.2		+	ENST00000356713.4	Missense_Mutation	SNP	10 : 101151259 - 101151259 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	169	20
NEB	4703	broad.mit.edu	37	2	152537333	152537333	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152537333G>A	ENST00000603639.1	-	28	2952	c.2953C>T	c.(2953-2955)Cgc>Tgc	p.R985C	NEB_ENST00000604864.1_Missense_Mutation_p.R985C|NEB_ENST00000427231.2_Missense_Mutation_p.R985C|NEB_ENST00000397345.3_Missense_Mutation_p.R985C|NEB_ENST00000172853.10_Missense_Mutation_p.R985C|NEB_ENST00000409198.1_Missense_Mutation_p.R985C			P20929	NEBU_HUMAN	nebulin	985					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGATGTTGGCGATATTTTTTC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/ARG,CYS/ARG,CYS/ARG	0,3746		0,0,1873	197	186	190		2953,2953,2953	5.7	1	2		190	1,8205		0,1,4102	no	missense,missense,missense	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	180,180,180	0,1,5975	AA,AG,GG	NA	0.0122,0.0,0.0084	probably-damaging,probably-damaging,probably-damaging	985/8526,985/8526,985/6670	152537333	1,11951	1873	4103	5976	SO:0001583	missense			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091	4703	4703			7720	protein-coding gene	gene with protein product	nemaline myopathy type 2	161650		NEM2	NA	10051637, 9359044	Standard	NM_004543	NM_001164507	NA	Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000603639.1:c.2953C>T	2.37:g.152537333G>A	ENSP00000473894:p.Arg985Cys	NA	Q15346|Q53QQ2|Q53TG8	37	CCDS54407.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840704	0.91197	0.0	1.22E-4	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.13307	2.61;2.69;2.68;2.6	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.48502	0.1503	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.58312	-0.7658	10	0.87932	D	0	.	18.5478	0.91053	0.0:0.0:1.0:0.0	.	985	P20929	NEBU_HUMAN	C	985	ENSP00000386259:R985C;ENSP00000380505:R985C;ENSP00000416578:R985C;ENSP00000172853:R985C	ENSP00000172853:R985C	R	-	1	0	NEB	152245579	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.188000	0.58351	2.684000	0.91462	0.650000	0.86243	CGC	NEB-017	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000469059.2		-	ENST00000603639.1	Missense_Mutation	SNP	2 : 152537333 - 152537333 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	822	202
PITPNM2	57605	broad.mit.edu	37	12	123481101	123481101	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123481101G>A	ENST00000280562.5	-	12	1891	c.1686C>T	c.(1684-1686)gtC>gtT	p.V562V	PITPNM2_ENST00000320201.4_Silent_p.V562V|PITPNM2_ENST00000392428.1_Silent_p.V283V|PITPNM2_ENST00000542749.1_Silent_p.V562V			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	562					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GGATGCCCCCGACGCAGTCCC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	34	34			NA	NA	12		NA											NA				123481101		2202	4299	6501	SO:0001819	synonymous_variant			AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975	57605	57605			21044	protein-coding gene	gene with protein product		608920			NA	10022914	Standard	NM_020845	XM_005253582	NA	Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000280562.5:c.1686C>T	12.37:g.123481101G>A		NA	Q9P271	37																																																																																				PITPNM2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000401341.1		-	ENST00000280562.5	Silent	SNP	12 : 123481101 - 123481101 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	19
ROBO1	6091	broad.mit.edu	37	3	78676482	78676482	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:78676482C>A	ENST00000464233.1	-	26	3977	c.3864G>T	c.(3862-3864)caG>caT	p.Q1288H	ROBO1_ENST00000495273.1_Missense_Mutation_p.Q1243H|ROBO1_ENST00000436010.2_Missense_Mutation_p.Q1249H|ROBO1_ENST00000467549.1_Missense_Mutation_p.Q1188H	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1288					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TCCTGTCGGGCTGGTGCTGCA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	54	52			NA	NA	3		NA											NA				78676482		2154	4260	6414	SO:0001583	missense			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855	6091	6091		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	10249	protein-coding gene	gene with protein product		602430	roundabout (axon guidance receptor, Drosophila) homolog 1		NA	9458045, 9608531	Standard	NM_002941	NM_002941	NA	Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.3864G>T	3.37:g.78676482C>A	ENSP00000420321:p.Gln1288His	NA	D3DU36|Q7Z300|Q9BUS7	37	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	3.600	-0.081801	0.07141	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.61392	0.13;0.11;0.11;0.13	5.08	-8.7	0.00851	.	0.407517	0.29383	N	0.012309	T	0.33177	0.0854	L	0.27053	0.805	0.09310	N	1	B;B;B;B;B	0.09022	0.0;0.0;0.0;0.0;0.002	B;B;B;B;B	0.13407	0.0;0.0;0.0;0.0;0.009	T	0.17228	-1.0376	9	.	.	.	.	12.3366	0.55071	0.0979:0.5823:0.0:0.3199	.	1252;1288;1243;1188;1249	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	H	1249;1243;1288;1243;1188;1292	ENSP00000406043:Q1249H;ENSP00000420321:Q1288H;ENSP00000420637:Q1243H;ENSP00000417992:Q1188H	.	Q	-	3	2	ROBO1	78759172	0.000000	0.05858	0.012000	0.15200	0.161000	0.22273	-2.170000	0.01268	-1.238000	0.02535	-0.340000	0.08031	CAG	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352610.1		-	ENST00000464233.1	Missense_Mutation	SNP	3 : 78676482 - 78676482 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	112	14
LMOD3	56203	broad.mit.edu	37	3	69168087	69168087	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69168087C>T	ENST00000420581.2	-	2	1598	c.1419G>A	c.(1417-1419)tcG>tcA	p.S473S	LMOD3_ENST00000489031.1_Silent_p.S473S|LMOD3_ENST00000475434.1_Silent_p.S473S	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	473						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TCGGGGCCTGCGATGGCTTTT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4099		0,1,2049	67	72	70		1419	-11.7	0	3		70	0,8420		0,0,4210	no	coding-synonymous	LMOD3	NM_198271.3		0,1,6259	TT,TC,CC	NA	0.0,0.0244,0.0080		473/561	69168087	1,12519	2050	4210	6260	SO:0001819	synonymous_variant			AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380	56203	56203			6649	protein-coding gene	gene with protein product					NA		Standard	XM_067529	NM_198271	NA	Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.1419G>A	3.37:g.69168087C>T		NA	B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	37	CCDS46862.1																																																																																			LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352138.1		-	ENST00000420581.2	Silent	SNP	3 : 69168087 - 69168087 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	202	35
PCDHA10	56139	broad.mit.edu	37	5	140237244	140237244	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140237244C>T	ENST00000307360.5	+	1	1611	c.1611C>T	c.(1609-1611)cgC>cgT	p.R537R	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018901.2	NP_061724.1			protocadherin alpha 10	NA										NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCGCGCGCGATGGGGGCG	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	57	55			NA	NA	5		NA											NA				140237244		2196	4265	6461	SO:0001819	synonymous_variant			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120	56139	56139		Cadherins / Protocadherins : Clustered	8664	other	complex locus constituent	KIAA0345-like 4, ortholog to mouse CNR8	606316		CNRS8	NA	10380929	Standard	NM_018901	NM_018901	NA	Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1611C>T	5.37:g.140237244C>T		NA		37	CCDS54921.1																																																																																			PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372895.2		+	ENST00000307360.5	Silent	SNP	5 : 140237244 - 140237244 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	840	140
ZNF106	64397	broad.mit.edu	37	15	42717205	42717205	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42717205T>C	ENST00000565611.1	-	12	2812	c.2503A>G	c.(2503-2505)Atc>Gtc	p.I835V	ZNF106_ENST00000263805.4_Missense_Mutation_p.I1650V|ZNF106_ENST00000565380.1_Missense_Mutation_p.I878V					zinc finger protein 106	NA											NA						CATTCAAAGATCTCAAGTCGT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	64	66			NA	NA	15		NA											NA				42717205		2203	4299	6502	SO:0001583	missense			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994	64397	64397		Zinc fingers, C2H2-type	12886	protein-coding gene	gene with protein product	SH3-domain binding protein 3		zinc finger protein 106 homolog (mouse)	ZFP106	NA		Standard	NM_022473	XM_005254591	NA	Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000565611.1:c.2503A>G	15.37:g.42717205T>C	ENSP00000457637:p.Ile835Val	NA		37		.	.	.	.	.	.	.	.	.	.	T	1.399	-0.578695	0.03854	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	T	0.16897	2.31	5.53	-0.691	0.11305	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.369265	0.31566	N	0.007432	T	0.04497	0.0123	N	0.01576	-0.805	0.24712	N	0.993191	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.0;0.003;0.002	T	0.42582	-0.9443	10	0.05525	T	0.97	-3.4112	11.7596	0.51894	0.0:0.4889:0.0:0.5111	.	878;1650;878	E9PE29;Q9H2Y7;B4DZ40	.;ZF106_HUMAN;.	V	1650;878	ENSP00000263805:I1650V	ENSP00000263805:I1650V	I	-	1	0	ZFP106	40504497	0.130000	0.22417	0.106000	0.21319	0.967000	0.64934	0.440000	0.21592	-0.276000	0.09206	0.528000	0.53228	ATC	ZNF106-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000422589.2		-	ENST00000565611.1	Missense_Mutation	SNP	15 : 42717205 - 42717205 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	335	64
CDC42BPB	9578	broad.mit.edu	37	14	103444469	103444469	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103444469G>A	ENST00000361246.2	-	9	1502	c.1214C>T	c.(1213-1215)aCg>aTg	p.T405M		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	405	AGC-kinase C-terminal.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		ATACCTTTCCGTTGTGAATGT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	98	103			NA	NA	14		NA											NA				103444469		2203	4300	6503	SO:0001583	missense			AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752	9578	9578			1738	protein-coding gene	gene with protein product		614062	CDC42-binding protein kinase beta (DMPK-like)		NA	10198171	Standard	NM_006035	NM_006035	NA	Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.1214C>T	14.37:g.103444469G>A	ENSP00000355237:p.Thr405Met	NA	Q2L7A5|Q86TJ1|Q9ULU5	37	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069583	0.76301	.	.	ENSG00000198752	ENST00000361246	T	0.64260	-0.09	5.3	5.3	0.74995	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.74435	0.3716	L	0.51422	1.61	0.80722	D	1	D	0.63046	0.992	D	0.64776	0.929	T	0.75309	-0.3363	10	0.54805	T	0.06	.	18.9519	0.92644	0.0:0.0:1.0:0.0	.	405	Q9Y5S2	MRCKB_HUMAN	M	405	ENSP00000355237:T405M	ENSP00000355237:T405M	T	-	2	0	CDC42BPB	102514222	1.000000	0.71417	0.789000	0.31954	0.639000	0.38242	5.293000	0.65680	2.481000	0.83766	0.655000	0.94253	ACG	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415711.1		-	ENST00000361246.2	Missense_Mutation	SNP	14 : 103444469 - 103444469 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	45
NPHP4	261734	broad.mit.edu	37	1	5965437	5965437	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:5965437C>T	ENST00000378156.4	-	15	2135	c.1870G>A	c.(1870-1872)Gaa>Aaa	p.E624K	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	624					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GTCACAGGTTCTGTAGCGCTG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	129	129			NA	NA	1		NA											NA				5965437		1980	4172	6152	SO:0001583	missense			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697	261734	261734			19104	protein-coding gene	gene with protein product	nephroretinin, nephrocystin-4, POC10 centriolar protein homolog (Chlamydomonas)	607215			NA	11920287, 12205563	Standard		XR_244787	NA	Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.1870G>A	1.37:g.5965437C>T	ENSP00000367398:p.Glu624Lys	NA		37	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.304596	0.23736	.	.	ENSG00000131697	ENST00000378156;ENST00000378160	D	0.86694	-2.16	5.52	4.41	0.53225	.	0.499991	0.19623	N	0.109877	T	0.79364	0.4433	N	0.24115	0.695	0.09310	N	1	B	0.21452	0.056	B	0.26202	0.067	T	0.71447	-0.4590	10	0.66056	D	0.02	.	10.7746	0.46342	0.0:0.839:0.0:0.161	.	624	O75161	NPHP4_HUMAN	K	624;27	ENSP00000367398:E624K	ENSP00000367398:E624K	E	-	1	0	NPHP4	5888024	0.285000	0.24296	0.020000	0.16555	0.002000	0.02628	3.034000	0.49751	2.586000	0.87340	0.561000	0.74099	GAA	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000001715.2		-	ENST00000378156.4	Missense_Mutation	SNP	1 : 5965437 - 5965437 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	422	131
CELF5	60680	broad.mit.edu	37	19	3281290	3281290	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3281290C>A	ENST00000541430.2	+	6	733	c.697C>A	c.(697-699)Ctg>Atg	p.L233M	CELF5_ENST00000292672.2_Missense_Mutation_p.L233M	NM_001172673.1	NP_001166144.1	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	233					mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						GCTGGGCATCCTGACGCCGTC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	89	94			NA	NA	19		NA											NA				3281290		2203	4300	6503	SO:0001583	missense			AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082	60680	60680		RNA binding motif (RRM) containing	14058	protein-coding gene	gene with protein product		612680	Bruno (Drosophila) -like 5, RNA binding protein, bruno-like 5, RNA binding protein (Drosophila)	BRUNOL5	NA	10893231	Standard	NM_021938	NM_001172673	NA	Approved		uc002lxm.3	Q8N6W0		ENST00000541430.2:c.697C>A	19.37:g.3281290C>A	ENSP00000443498:p.Leu233Met	NA	D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	37	CCDS54197.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291455	0.40494	.	.	ENSG00000161082	ENST00000292672;ENST00000541430;ENST00000334293	T;T;T	0.30981	2.16;1.59;1.51	3.73	2.39	0.29439	.	0.272295	0.35378	N	0.003255	T	0.28234	0.0697	N	0.25992	0.78	0.37470	D	0.915569	B;P;B	0.51147	0.126;0.942;0.04	B;P;B	0.55824	0.043;0.785;0.027	T	0.16630	-1.0396	10	0.56958	D	0.05	-4.319	3.4995	0.07668	0.0:0.5817:0.0:0.4183	.	119;233;233	B4DFI3;Q8N6W0-2;Q8N6W0	.;.;CELF5_HUMAN	M	233;233;119	ENSP00000292672:L233M;ENSP00000443498:L233M;ENSP00000335182:L119M	ENSP00000292672:L233M	L	+	1	2	CELF5	3232290	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.788000	0.38714	1.813000	0.52934	0.462000	0.41574	CTG	CELF5-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452581.1		+	ENST00000541430.2	Missense_Mutation	SNP	19 : 3281290 - 3281290 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	665	20
PRKCG	5582	broad.mit.edu	37	19	54403724	54403724	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54403724C>T	ENST00000263431.3	+	13	1707	c.1425C>T	c.(1423-1425)ggC>ggT	p.G475G	PRKCG_ENST00000542049.1_Silent_p.G362G|PRKCG_ENST00000540413.1_Silent_p.G475G	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	475	Protein kinase.				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)		ACAATCAGGGCATCATCTACA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	59	58			NA	NA	19		NA											NA				54403724		2203	4300	6503	SO:0001819	synonymous_variant			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.1425C>T	19.37:g.54403724C>T		NA		37	CCDS12867.1																																																																																			PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000139233.3		+	ENST00000263431.3	Silent	SNP	19 : 54403724 - 54403724 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	40
ITSN2	50618	broad.mit.edu	37	2	24471562	24471562	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24471562G>A	ENST00000355123.4	-	27	3667	c.3224C>T	c.(3223-3225)gCa>gTa	p.A1075V	ITSN2_ENST00000406921.3_Missense_Mutation_p.A1075V|ITSN2_ENST00000361999.3_Missense_Mutation_p.A1048V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1075	SH3 4.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTCCTGGTGCAAGGCTAAG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	45	45			NA	NA	2		NA											NA				24471562		2203	4300	6503	SO:0001583	missense			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399	50618	50618		Rho guanine nucleotide exchange factors, EF-hand domain containing	6184	protein-coding gene	gene with protein product	SH3 domain protein 1B, SH3P18-like WASP associated protein	604464	SH3 domain protein 1B	SH3D1B	NA	10922467, 11748279	Standard	NM_006277	NM_006277	NA	Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.3224C>T	2.37:g.24471562G>A	ENSP00000347244:p.Ala1075Val	NA	O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	37	CCDS1710.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.15|18.15	3.559103|3.559103	0.65538|0.65538	.|.	.|.	ENSG00000198399|ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921|ENST00000416160	T;T;T;T|.	0.50001|.	0.76;0.76;0.76;0.76|.	5.75|5.75	5.75|5.75	0.90469|0.90469	Src homology-3 domain (4);|.	0.000000|.	0.31721|.	U|.	0.007178|.	T|T	0.59865|0.59865	0.2225|0.2225	L|L	0.29908|0.29908	0.895|0.895	0.46631|0.46631	D|D	0.999137|0.999137	P;P;P|.	0.47484|.	0.873;0.873;0.896|.	P;P;P|.	0.48952|.	0.461;0.461;0.596|.	T|T	0.50972|0.50972	-0.8764|-0.8764	10|5	0.62326|.	D|.	0.03|.	.|.	20.3312|20.3312	0.98718|0.98718	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1075;1048;1075|.	Q9NZM3-3;Q9NZM3-2;Q9NZM3|.	.;.;ITSN2_HUMAN|.	V|Y	1048;1075;1048;1075|3	ENSP00000354561:A1048V;ENSP00000347244:A1075V;ENSP00000370250:A1048V;ENSP00000384499:A1075V|.	ENSP00000347244:A1075V|.	A|H	-|-	2|1	0|0	ITSN2|ITSN2	24325066|24325066	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.334000|4.334000	0.59291|0.59291	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GCA|CAC	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207620.2		-	ENST00000355123.4	Missense_Mutation	SNP	2 : 24471562 - 24471562 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	297	32
LLGL1	3996	broad.mit.edu	37	17	18144854	18144854	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18144854G>A	ENST00000316843.4	+	18	2688	c.2592G>A	c.(2590-2592)acG>acA	p.T864T		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	864					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CACTGGCCACGTTTGCCAGTG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	55	62			NA	NA	17		NA											NA				18144854		2203	4300	6503	SO:0001819	synonymous_variant				CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899	3996	3996		WD repeat domain containing	6628	protein-coding gene	gene with protein product		600966	lethal giant larvae (Drosophila) homolog 1	DLG4, LLGL, HUGL, HUGL-1	NA	7542763, 8565641	Standard		XM_005256643	NA	Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.2592G>A	17.37:g.18144854G>A		NA	A7MBM7|O00188|Q58F11|Q86UK6	37	CCDS32586.1																																																																																			LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132067.3		+	ENST00000316843.4	Silent	SNP	17 : 18144854 - 18144854 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	232	45
CPNE7	27132	broad.mit.edu	37	16	89661804	89661804	+	Silent	SNP	C	C	T	rs144641606	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89661804C>T	ENST00000268720.5	+	16	1687	c.1557C>T	c.(1555-1557)gaC>gaT	p.D519D	CPNE7_ENST00000566398.1_3'UTR|CPNE7_ENST00000319518.8_Silent_p.D444D	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	519	VWFA.				lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		TCCTGACGGACGGCGTGGTGA	0.632		NA											C	5	0.0023	0.01	0.01	2184	NA	0.9994	,	,	NA	4e-04	NA	NA	NA	0.0026	0.899	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0								C	,	54,4340	53.6+/-89.4	0,54,2143	71	51	58		1557,1332	-1	1	16	dbSNP_134	58	0,8590		0,0,4295	no	coding-synonymous,coding-synonymous	CPNE7	NM_014427.4,NM_153636.2	,	0,54,6438	TT,TC,CC	NA	0.0,1.2289,0.4159	,	519/634,444/559	89661804	54,12930	2197	4295	6492	SO:0001819	synonymous_variant			AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773	27132	27132			2320	protein-coding gene	gene with protein product		605689			NA		Standard		NM_014427	NA	Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.1557C>T	16.37:g.89661804C>T		NA		37	CCDS10980.1																																																																																			CPNE7-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269929.2		+	ENST00000268720.5	Silent	SNP	16 : 89661804 - 89661804 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	77
UPB1	51733	broad.mit.edu	37	22	24891453	24891453	+	Missense_Mutation	SNP	G	G	A	rs141896929	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24891453G>A	ENST00000326010.5	+	1	426	c.82G>A	c.(82-84)Gtt>Att	p.V28I	UPB1_ENST00000382760.2_Missense_Mutation_p.V28I|UPB1_ENST00000413389.2_Missense_Mutation_p.R17H	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	28					pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					AGTGAAGCGCGTTCTCTATGG	0.637		NA											G	3	0.0014	0.01	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0014	1	LOWCOV,EXOME	NA	NA	0.0057	SNP								NA				0								G	ILE/VAL	40,4366	43.1+/-76.7	0,40,2163	73	63	67		82	0.4	0.9	22	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	yes	missense	UPB1	NM_016327.2	29	0,41,6462	AA,AG,GG	NA	0.0116,0.9079,0.3152	benign	28/385	24891453	41,12965	2203	4300	6503	SO:0001583	missense			AB013885	CCDS13827.1	22q11.2	2008-04-11			ENSG00000100024	ENSG00000100024	51733	51733			16297	protein-coding gene	gene with protein product		606673			NA	10542323	Standard		XR_244378	NA	Approved	BUP1	uc003aaf.3	Q9UBR1	OTTHUMG00000150749	ENST00000326010.5:c.82G>A	22.37:g.24891453G>A	ENSP00000324343:p.Val28Ile	NA	A3KMF8|Q9UIR3	37	CCDS13827.1	3|3	0.0013736263736263737|0.0013736263736263737	3|3	0.006097560975609756|0.006097560975609756	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	16.46|16.46	3.129310|3.129310	0.56721|0.56721	0.009079|0.009079	1.16E-4|1.16E-4	ENSG00000100024|ENSG00000100024	ENST00000413389|ENST00000326010;ENST00000382760;ENST00000426507	D|T;T	0.83419|0.77620	-1.72|-1.11;-1.11	5.1|5.1	0.391|0.391	0.16282|0.16282	.|.	.|0.482685	.|0.23386	.|N	.|0.048743	T|T	0.30355|0.30355	0.0762|0.0762	N|N	0.01168|0.01168	-0.975|-0.975	0.21416|0.21416	N|N	0.999692|0.999692	B|B	0.02656|0.06786	0.0|0.001	B|B	0.01281|0.04013	0.0|0.001	T|T	0.38950|0.38950	-0.9637|-0.9637	9|10	0.48119|0.02654	T|T	0.1|1	0.7381|0.7381	4.0678|4.0678	0.09868|0.09868	0.434:0.3568:0.2092:0.0|0.434:0.3568:0.2092:0.0	.|.	17|28	E7EUZ5|Q9UBR1	.|BUP1_HUMAN	H|I	17|28	ENSP00000406057:R17H|ENSP00000324343:V28I;ENSP00000372208:V28I	ENSP00000406057:R17H|ENSP00000324343:V28I	R|V	+|+	2|1	0|0	UPB1|UPB1	23221453|23221453	0.006000|0.006000	0.16342|0.16342	0.938000|0.938000	0.37757|0.37757	0.928000|0.928000	0.56348|0.56348	-0.076000|-0.076000	0.11412|0.11412	-0.144000|-0.144000	0.11314|0.11314	0.585000|0.585000	0.79938|0.79938	CGT|GTT	UPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319869.1		+	ENST00000326010.5	Missense_Mutation	SNP	22 : 24891453 - 24891453 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	467	86
SLC9B2	133308	broad.mit.edu	37	4	103947602	103947602	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:103947602G>A	ENST00000503103.1	-	10	1421	c.1231C>T	c.(1231-1233)Ccc>Tcc	p.P411S	SLC9B2_ENST00000503230.1_Silent_p.G456G|SLC9B2_ENST00000394785.3_Silent_p.G513G|SLC9B2_ENST00000362026.3_Silent_p.G513G|SLC9B2_ENST00000339611.4_Intron			Q86UD5	NHDC2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	0					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity				NA						GAAGCCTGGGGCCCAGTAAAC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	105	104			NA	NA	4		NA											NA				103947602		2203	4300	6503	SO:0001583	missense			AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038	133308	133308		Solute carriers	25143	protein-coding gene	gene with protein product		611789	Na+/H+ exchanger domain containing 2, solute carrier family 9, subfamily B (cation proton antiporter 2), member 2	NHEDC2	NA	18600791	Standard	NM_178833	XM_005262758	NA	Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000503103.1:c.1231C>T	4.37:g.103947602G>A	ENSP00000425385:p.Pro411Ser	NA	B5ME52|Q6ZMD8|Q96D95	37		.	.	.	.	.	.	.	.	.	.	G	14.32	2.499285	0.44455	.	.	ENSG00000164038	ENST00000503103	T	0.25749	1.78	5.13	2.38	0.29361	.	.	.	.	.	T	0.15869	0.0382	.	.	.	0.80722	D	1	B	0.21071	0.051	B	0.14023	0.01	T	0.20042	-1.0287	8	0.72032	D	0.01	-11.9595	0.8158	0.01102	0.2352:0.1724:0.3751:0.2173	.	411	B7Z676	.	S	411	ENSP00000425385:P411S	ENSP00000425385:P411S	P	-	1	0	SLC9B2	104167051	0.087000	0.21565	1.000000	0.80357	0.970000	0.65996	-0.645000	0.05409	0.517000	0.28361	0.585000	0.79938	CCC	SLC9B2-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000363236.1		-	ENST00000503103.1	Missense_Mutation	SNP	4 : 103947602 - 103947602 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	607	124
ARHGAP30	257106	broad.mit.edu	37	1	161017863	161017863	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161017863C>T	ENST00000368013.3	-	12	3268	c.2948G>A	c.(2947-2949)cGa>cAa	p.R983Q	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R772Q|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.R806Q	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	983					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TCGAGAAGCTCGGGACCCCCA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	62	73	70		2948,2315	3.7	1	1		70	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ARHGAP30	NM_001025598.1,NM_181720.2	43,43	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging	983/1102,772/891	161017863	1,13005	2203	4300	6503	SO:0001583	missense			AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517	257106	257106		Rho GTPase activating proteins	27414	protein-coding gene	gene with protein product		614264			NA		Standard	NM_181720	NM_001287602	NA	Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.2948G>A	1.37:g.161017863C>T	ENSP00000356992:p.Arg983Gln	NA	Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	37	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190700	0.58017	0.0	1.16E-4	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368015	T;T;T	0.37584	2.63;2.73;1.19	4.57	3.65	0.41850	.	0.000000	0.37955	N	0.001863	T	0.41328	0.1154	M	0.71581	2.175	0.27381	N	0.95541	D;P	0.89917	1.0;0.614	D;B	0.76575	0.988;0.074	T	0.26224	-1.0109	10	0.44086	T	0.13	.	10.1311	0.42680	0.0:0.8997:0.0:0.1003	.	983;772	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	Q	772;983;806	ENSP00000356995:R772Q;ENSP00000356992:R983Q;ENSP00000356994:R806Q	ENSP00000356992:R983Q	R	-	2	0	ARHGAP30	159284487	0.847000	0.29606	0.984000	0.44739	0.632000	0.37999	2.145000	0.42207	0.890000	0.36211	0.455000	0.32223	CGA	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077090.2		-	ENST00000368013.3	Missense_Mutation	SNP	1 : 161017863 - 161017863 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	813	154
CSMD3	114788	broad.mit.edu	37	8	113418858	113418858	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113418858A>C	ENST00000297405.5	-	35	5948	c.5704T>G	c.(5704-5706)Ttt>Gtt	p.F1902V	CSMD3_ENST00000343508.3_Missense_Mutation_p.F1862V|CSMD3_ENST00000455883.2_Missense_Mutation_p.F1798V|CSMD3_ENST00000352409.3_Missense_Mutation_p.F1832V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1902	Sushi 10.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTACAATCAAAAAGAACCGAT	0.418		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	116	118			NA	NA	8		NA											NA				113418858		2203	4300	6503	SO:0001583	missense			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796	114788	114788			19291	protein-coding gene	gene with protein product		608399			NA		Standard	NM_052900	NM_052900	NA	Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5704T>G	8.37:g.113418858A>C	ENSP00000297405:p.Phe1902Val	NA	Q96PZ3	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.817349	0.90790	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	4.91	4.91	0.64330	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.85279	0.5660	M	0.92691	3.335	0.48040	D	0.999579	D;B;D	0.76494	0.985;0.016;0.999	P;B;D	0.91635	0.771;0.02;0.999	D	0.88209	0.2889	10	0.52906	T	0.07	.	15.0021	0.71483	1.0:0.0:0.0:0.0	.	1798;1902;1862	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	1862;1902;1172;1798;1832	ENSP00000345799:F1862V;ENSP00000297405:F1902V;ENSP00000341558:F1172V;ENSP00000412263:F1798V;ENSP00000343124:F1832V	ENSP00000297405:F1902V	F	-	1	0	CSMD3	113488034	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.087000	0.94110	2.198000	0.70561	0.533000	0.62120	TTT	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347141.1		-	ENST00000297405.5	Missense_Mutation	SNP	8 : 113418858 - 113418858 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	506	95
PIGZ	80235	broad.mit.edu	37	3	196678897	196678897	+	Silent	SNP	C	C	T	rs139328732		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196678897C>T	ENST00000443835.1	-	2	190	c.6G>A	c.(4-6)caG>caA	p.Q2Q	PIGZ_ENST00000412723.1_Silent_p.Q2Q			Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	2					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		ATCCACAGATCTGCATCTGTT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	71	62	65		6	2.8	0	3	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PIGZ	NM_025163.2		0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077		2/580	196678897	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227	80235	80235		Dolichyl D-mannosyl phosphate dependent mannosyltransferases, Phosphatidylinositol glycan anchor biosynthesis	30596	protein-coding gene	gene with protein product	GPI mannosyltransferase 4, dol-P-Man dependent GPI mannosyltransferase	611671	phosphatidylinositol glycan, class Z		NA	15208306	Standard	NM_025163	NM_025163	NA	Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000443835.1:c.6G>A	3.37:g.196678897C>T		NA	Q9H9G6	37																																																																																				PIGZ-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000340489.2		-	ENST00000443835.1	Silent	SNP	3 : 196678897 - 196678897 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	127	26
TATDN2	9797	broad.mit.edu	37	3	10312335	10312335	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10312335G>A	ENST00000287652.4	+	4	2520	c.1469G>A	c.(1468-1470)aGc>aAc	p.S490N	TATDN2_ENST00000448281.2_Missense_Mutation_p.S490N|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	490						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CTGGAGCCAAGCCTAGAGGAG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	65	66			NA	NA	3		NA											NA				10312335		2203	4300	6503	SO:0001583	missense			D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014	9797	9797			28988	protein-coding gene	gene with protein product					NA	9039502	Standard	XM_376203	NM_014760	NA	Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.1469G>A	3.37:g.10312335G>A	ENSP00000287652:p.Ser490Asn	NA	Q3MIL9|Q5BKU0	37	CCDS33698.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495864	0.26774	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.23950	1.88;1.88	5.0	2.21	0.28008	.	1.020500	0.07845	N	0.963704	T	0.17023	0.0409	N	0.25647	0.755	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.28808	-1.0032	10	0.54805	T	0.06	-3.2363	3.5254	0.07757	0.2796:0.0:0.5426:0.1779	.	490	Q93075	TATD2_HUMAN	N	490	ENSP00000287652:S490N;ENSP00000408736:S490N	ENSP00000287652:S490N	S	+	2	0	TATDN2	10287335	0.012000	0.17670	0.117000	0.21633	0.411000	0.31082	0.275000	0.18698	0.638000	0.30545	0.644000	0.83932	AGC	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339641.1		+	ENST00000287652.4	Missense_Mutation	SNP	3 : 10312335 - 10312335 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	370	70
PGR	5241	broad.mit.edu	37	11	100998847	100998847	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:100998847G>A	ENST00000325455.5	-	1	2408	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C	PGR_ENST00000263463.5_Missense_Mutation_p.R319C|PGR_ENST00000534013.1_Intron	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	319	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TGCCGAGTGCGGGCTGCCAAT	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(124;2271 2354 21954 22882)							NA				0													12	15	14			NA	NA	11		NA											NA				100998847		1853	3714	5567	SO:0001583	missense			M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175	5241	5241		Nuclear hormone receptors	8910	protein-coding gene	gene with protein product		607311			NA		Standard		NM_000926	NA	Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.955C>T	11.37:g.100998847G>A	ENSP00000325120:p.Arg319Cys	NA	A7X8B0|Q9UPF7	37	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214077	0.58452	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.18657	2.2;2.2	4.37	3.38	0.38709	.	0.000000	0.40144	N	0.001167	T	0.45994	0.1370	M	0.82323	2.585	0.47819	D	0.999528	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	T	0.52132	-0.8616	10	0.87932	D	0	.	11.0039	0.47622	0.0:0.0:0.611:0.3889	.	319;319	Q8TDS3;P06401	.;PRGR_HUMAN	C	319	ENSP00000325120:R319C;ENSP00000263463:R319C	ENSP00000263463:R319C	R	-	1	0	PGR	100504057	0.993000	0.37304	1.000000	0.80357	0.746000	0.42486	1.562000	0.36353	1.962000	0.57031	0.561000	0.74099	CGC	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394934.1		-	ENST00000325455.5	Missense_Mutation	SNP	11 : 100998847 - 100998847 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	217	39
TARSL2	123283	broad.mit.edu	37	15	102211926	102211926	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:102211926A>G	ENST00000335968.3	-	14	2030	c.1814T>C	c.(1813-1815)tTt>tCt	p.F605S		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	605					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGGTTCTCCAAAGTCCATCAA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	66	67			NA	NA	15		NA											NA				102211926		2203	4300	6503	SO:0001583	missense			AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418	123283	123283			24728	protein-coding gene	gene with protein product					NA		Standard	NM_152334	NM_152334	NA	Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.1814T>C	15.37:g.102211926A>G	ENSP00000338093:p.Phe605Ser	NA	B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	37	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	A	15.93	2.976726	0.53720	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	.	.	.	5.11	5.11	0.69529	Aminoacyl-tRNA synthetase, class II (1);	0.049922	0.85682	D	0.000000	T	0.43831	0.1265	N	0.26042	0.785	0.58432	D	0.99999	B;B	0.32338	0.365;0.167	B;B	0.31245	0.099;0.126	T	0.38286	-0.9668	9	0.31617	T	0.26	-9.3299	12.9168	0.58211	1.0:0.0:0.0:0.0	.	605;510	A2RTX5;A2RTX5-2	SYTC2_HUMAN;.	S	605;510;605	.	ENSP00000329291:F510S	F	-	2	0	TARSL2	100029449	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.820000	0.92003	1.943000	0.56356	0.477000	0.44152	TTT	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313619.3		-	ENST00000335968.3	Missense_Mutation	SNP	15 : 102211926 - 102211926 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	246	46
IGSF9	57549	broad.mit.edu	37	1	159897170	159897170	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159897170G>A	ENST00000368094.1	-	21	3702	c.3505C>T	c.(3505-3507)Cca>Tca	p.P1169S	IGSF9_ENST00000361509.3_Missense_Mutation_p.P1153S|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1169						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGGGGACTGGCTGTCGATAG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	56	55			NA	NA	1		NA											NA				159897170		2109	4133	6242	SO:0001583	missense			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552	57549	57549		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	18132	protein-coding gene	gene with protein product		609738			NA	11991715	Standard	NM_020789	NM_020789	NA	Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.3505C>T	1.37:g.159897170G>A	ENSP00000357073:p.Pro1169Ser	NA		37	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	G	2.757	-0.258667	0.05791	.	.	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	T;T	0.63096	-0.02;0.07	4.89	1.85	0.25348	.	0.178280	0.27258	N	0.020195	T	0.15132	0.0365	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.0	T	0.23440	-1.0188	9	.	.	.	-1.1824	2.9334	0.05807	0.1012:0.1792:0.5347:0.1849	.	1169;707	Q9P2J2;C9JI81	TUTLA_HUMAN;.	S	1153;1169;707	ENSP00000355049:P1153S;ENSP00000357073:P1169S	.	P	-	1	0	IGSF9	158163794	1.000000	0.71417	0.037000	0.18230	0.431000	0.31685	1.311000	0.33562	0.208000	0.20626	0.563000	0.77884	CCA	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059115.1		-	ENST00000368094.1	Missense_Mutation	SNP	1 : 159897170 - 159897170 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	699	103
ZBTB5	9925	broad.mit.edu	37	9	37441319	37441319	+	Silent	SNP	C	C	T	rs138751675	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37441319C>T	ENST00000307750.4	-	2	1418	c.1230G>A	c.(1228-1230)tcG>tcA	p.S410S		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		TAAGAAAATTCGAAATACTAA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	71	69			NA	NA	9		NA											NA				37441319		2203	4300	6503	SO:0001819	synonymous_variant			AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795	9925	9925		-, BTB/POZ domain containing, Zinc fingers, C2H2-type	23836	protein-coding gene	gene with protein product					NA	9205841	Standard	NM_014872	NM_014872	NA	Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.1230G>A	9.37:g.37441319C>T		NA		37	CCDS6610.1																																																																																			ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052462.1		-	ENST00000307750.4	Silent	SNP	9 : 37441319 - 37441319 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	71
CTNNB1	1499	broad.mit.edu	37	3	41275730	41275730	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41275730G>A	ENST00000349496.5	+	10	1905	c.1625G>A	c.(1624-1626)cGt>cAt	p.R542H	CTNNB1_ENST00000396183.3_Missense_Mutation_p.R542H|CTNNB1_ENST00000396185.3_Missense_Mutation_p.R542H|CTNNB1_ENST00000405570.1_Missense_Mutation_p.R542H|CTNNB1_ENST00000453024.1_Missense_Mutation_p.R535H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	542					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TTGCTTGTTCGTGCACATCAG	0.488		15	H, Mis, T	PLAG1	colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma				Pilomatrixoma, Familial Clustering of					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(6;3 56 14213 18255)		Dom	yes		3	3p22-p21.3	1499	catenin (cadherin-associated protein), beta 1		E, M, O	0													159	133	142			NA	NA	3		NA											NA				41275730		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036	1499	1499		Armadillo repeat containing	2514	protein-coding gene	gene with protein product		116806	catenin (cadherin-associated protein), beta 1 (88kD)	CTNNB	NA	7829088	Standard	NM_001098210	NM_001098210	NA	Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1625G>A	3.37:g.41275730G>A	ENSP00000344456:p.Arg542His	NA	A8K1L7|Q8NEW9|Q8NI94|Q9H391	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528589	0.64860	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	5.87	4.99	0.66335	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62319	0.2418	M	0.82132	2.575	0.80722	D	1	B;P	0.36683	0.383;0.565	B;B	0.24974	0.046;0.057	T	0.68735	-0.5330	10	0.72032	D	0.01	-14.329	16.2705	0.82616	0.0:0.0:0.8662:0.1338	.	470;542	B4DSW9;P35222	.;CTNB1_HUMAN	H	542;542;542;535;542	ENSP00000385604:R542H;ENSP00000379486:R542H;ENSP00000344456:R542H;ENSP00000411226:R535H;ENSP00000379488:R542H	ENSP00000344456:R542H	R	+	2	0	CTNNB1	41250734	1.000000	0.71417	0.999000	0.59377	0.890000	0.51754	7.961000	0.87903	1.456000	0.47831	0.591000	0.81541	CGT	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254182.2		+	ENST00000349496.5	Missense_Mutation	SNP	3 : 41275730 - 41275730 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	383	64
RPTOR	57521	broad.mit.edu	37	17	78933943	78933943	+	Silent	SNP	C	C	T	rs138030342		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78933943C>T	ENST00000306801.3	+	30	3905	c.3543C>T	c.(3541-3543)atC>atT	p.I1181I	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Silent_p.I1023I	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1181					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GCTCACTCATCGTGGCTGGCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	0,4406		0,0,2203	130	88	102		3069,3543	-1	1	17	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	RPTOR	NM_001163034.1,NM_020761.2	,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,	1023/1178,1181/1336	78933943	1,13005	2203	4300	6503	SO:0001819	synonymous_variant				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564	57521	57521		WD repeat domain containing	30287	protein-coding gene	gene with protein product	regulatory associated protein of mTOR	607130			NA	10718198, 12150926	Standard	NM_020761	NM_001163034	NA	Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.3543C>T	17.37:g.78933943C>T		NA	B2RN36|Q8N4V9|Q8TB32|Q9P2P3	37	CCDS11773.1																																																																																			RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438125.1		+	ENST00000306801.3	Silent	SNP	17 : 78933943 - 78933943 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	367	43
PDE1A	5136	broad.mit.edu	37	2	183387083	183387083	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183387083C>T	ENST00000435564.1	-	1	221	c.21G>A	c.(19-21)gaG>gaA	p.E7E	PDE1A_ENST00000331935.6_Silent_p.E7E|PDE1A_ENST00000358139.2_Silent_p.E7E|PDE1A_ENST00000410103.1_Silent_p.E7E|PDE1A_ENST00000456212.1_Silent_p.E7E	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	7					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			ATTCTTCAATCTCTGTGGCAC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	145	146			NA	NA	2		NA											NA				183387083		2202	4299	6501	SO:0001819	synonymous_variant				CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	NA	5136	3.1.4.17	Phosphodiesterases	8774	protein-coding gene	gene with protein product		171890			NA	8557689, 11342109	Standard		NM_005019	NA	Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000435564.1:c.21G>A	2.37:g.183387083C>T		NA	D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	37	CCDS2285.1																																																																																			PDE1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255807.1		-	ENST00000435564.1	Silent	SNP	2 : 183387083 - 183387083 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	675	106
TTC40	0	broad.mit.edu	37	10	134627697	134627697	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134627697C>T	ENST00000368586.5	-	54	7447	c.7347G>A	c.(7345-7347)acG>acA	p.T2449T	TTC40_ENST00000263170.5_Silent_p.T610T	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN		610										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CCCATCGCGACGTGAATGTGT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	88	94			NA	NA	10		NA											NA				134627697		2203	4300	6503	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000368586.5:c.7347G>A	10.37:g.134627697C>T		NA	Q5JSF7|Q9NTQ5	37	CCDS58101.1																																																																																			TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051095.3		-	ENST00000368586.5	Silent	SNP	10 : 134627697 - 134627697 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	246	37
CSDE1	7812	broad.mit.edu	37	1	115272969	115272969	+	Silent	SNP	G	G	A	rs147370534	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115272969G>A	ENST00000530886.1	-	10	1463	c.876C>T	c.(874-876)tcC>tcT	p.S292S	CSDE1_ENST00000438362.2_Silent_p.S468S|CSDE1_ENST00000261443.5_Silent_p.S391S|CSDE1_ENST00000534699.1_Silent_p.S422S|CSDE1_ENST00000358528.4_Silent_p.S422S|CSDE1_ENST00000369530.1_Silent_p.S437S|CSDE1_ENST00000339438.6_Silent_p.S391S			O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	422					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATCTGAATGGGAATGAAATG	0.373		NA											G	1	5e-04	NA	NA	2184	NA	1	,	,	NA	2e-04	0.0013	NA	NA	4e-04	0.95	LOWCOV,EXOME	NA	NA	7e-04	SNP								NA				0													101	107	105			NA	NA	1		NA											NA				115272969		2203	4300	6503	SO:0001819	synonymous_variant				CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307	7812	7812			29905	protein-coding gene	gene with protein product	upstream of NRAS	191510			NA	2204029, 10048485	Standard	NM_007158	NM_007158	NA	Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000530886.1:c.876C>T	1.37:g.115272969G>A		NA	A8K281|O94961|Q5TF04|Q5TF05|Q68DI9|Q9Y2S4	37																																																																																				CSDE1-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000392607.1		-	ENST00000530886.1	Silent	SNP	1 : 115272969 - 115272969 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	453	91
PLXNA4	91584	broad.mit.edu	37	7	131829899	131829899	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131829899C>T	ENST00000359827.3	-	29	6166	c.5204G>A	c.(5203-5205)cGc>cAc	p.R1735H	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1735H			Q9HCM2	PLXA4_HUMAN	plexin A4	1735						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCAGGTATGGCGGACGTGCGG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	74	72			NA	NA	7		NA											NA				131829899		2203	4300	6503	SO:0001583	missense			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866	91584	91584		Plexins	9102	protein-coding gene	gene with protein product		604280	plexin A4, A, plexin A4, B	PLXNA4A, PLXNA4B	NA		Standard	NM_181775	NM_181775	NA	Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.5204G>A	7.37:g.131829899C>T	ENSP00000352882:p.Arg1735His	NA	Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995290	0.74703	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.11604	2.76;2.76	5.21	5.21	0.72293	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.055041	0.64402	D	0.000003	T	0.34308	0.0893	M	0.75447	2.3	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.06058	-1.0848	10	0.59425	D	0.04	.	18.3526	0.90343	0.0:1.0:0.0:0.0	.	1735	Q9HCM2	PLXA4_HUMAN	H	1735	ENSP00000323194:R1735H;ENSP00000352882:R1735H	ENSP00000323194:R1735H	R	-	2	0	PLXNA4	131480439	1.000000	0.71417	1.000000	0.80357	0.262000	0.26303	7.776000	0.85560	2.426000	0.82243	0.561000	0.74099	CGC	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000338422.2		-	ENST00000359827.3	Missense_Mutation	SNP	7 : 131829899 - 131829899 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	35
IGF2BP2	10644	broad.mit.edu	37	3	185407235	185407235	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185407235C>T	ENST00000382199.2	-	6	680	c.585G>A	c.(583-585)ccG>ccA	p.P195P	IGF2BP2_ENST00000346192.3_Silent_p.P195P|IGF2BP2_ENST00000421047.2_Silent_p.P138P|IGF2BP2_ENST00000457616.2_Silent_p.P201P	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	195	KH 1.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GGATCCGCAGCGGGAAATCAA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	93	92			NA	NA	3		NA											NA				185407235		2203	4300	6503	SO:0001819	synonymous_variant			BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792	10644	10644		RNA binding motif (RRM) containing	28867	protein-coding gene	gene with protein product	IGF II mRNA binding protein 2	608289			NA	10190901, 9891060	Standard	NM_006548	NM_001007225	NA	Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.585G>A	3.37:g.185407235C>T		NA	A0A4Z0|B3FTN2|B3FTN3|B3FTN4	37	CCDS3273.2																																																																																			IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157087.2		-	ENST00000382199.2	Silent	SNP	3 : 185407235 - 185407235 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	856	131
NUP210	23225	broad.mit.edu	37	3	13419017	13419017	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:13419017C>T	ENST00000254508.5	-	9	1173	c.1091G>A	c.(1090-1092)cGc>cAc	p.R364H		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	364					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TTCATACAGGCGGCCGGTCTC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	134	135			NA	NA	3		NA											NA				13419017		2203	4300	6503	SO:0001583	missense			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182	23225	23225			30052	protein-coding gene	gene with protein product		607703			NA	2184032, 7504063	Standard	NM_024923	NM_024923	NA	Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.1091G>A	3.37:g.13419017C>T	ENSP00000254508:p.Arg364His	NA	A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	37	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804583	0.31869	.	.	ENSG00000132182	ENST00000254508	T	0.05649	3.41	4.93	4.04	0.47022	.	0.111045	0.64402	N	0.000013	T	0.08179	0.0204	M	0.62016	1.91	0.51482	D	0.999925	B;B	0.32128	0.131;0.357	B;B	0.23716	0.042;0.048	T	0.08994	-1.0695	10	0.51188	T	0.08	.	12.0113	0.53289	0.0:0.9134:0.0:0.0866	.	364;364	Q8TEM1-2;Q8TEM1	.;PO210_HUMAN	H	364	ENSP00000254508:R364H	ENSP00000254508:R364H	R	-	2	0	NUP210	13394017	1.000000	0.71417	0.993000	0.49108	0.029000	0.11900	5.529000	0.67135	1.040000	0.40099	0.591000	0.81541	CGC	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340085.1		-	ENST00000254508.5	Missense_Mutation	SNP	3 : 13419017 - 13419017 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	990	145
SRP72	6731	broad.mit.edu	37	4	57366836	57366836	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57366836G>T	ENST00000342756.5	+	18	2534	c.1813G>T	c.(1813-1815)Gca>Tca	p.A605S	SRP72_ENST00000510663.1_Missense_Mutation_p.A544S	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	605					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					GACCCAGGGAGCAACTGCAGG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	44	44			NA	NA	4		NA											NA				57366836		2203	4300	6503	SO:0001583	missense			AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780	6731	6731		Tetratricopeptide (TTC) repeat domain containing	11303	protein-coding gene	gene with protein product		602122	signal recognition particle 72kD		NA	9224693, 9857079	Standard		NM_006947	NA	Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.1813G>T	4.37:g.57366836G>T	ENSP00000342181:p.Ala605Ser	NA		37	CCDS3506.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.234601	0.22626	.	.	ENSG00000174780	ENST00000342756;ENST00000537129;ENST00000510663	T;T	0.78246	-1.16;-1.14	5.94	4.99	0.66335	.	0.231906	0.43919	D	0.000502	T	0.60612	0.2282	N	0.19112	0.55	0.43091	D	0.994761	B;B	0.21821	0.061;0.008	B;B	0.16289	0.015;0.003	T	0.55717	-0.8097	10	0.23302	T	0.38	.	9.6069	0.39639	0.1236:0.0:0.8764:0.0	.	544;605	G5E9Z8;O76094	.;SRP72_HUMAN	S	605;550;544	ENSP00000342181:A605S;ENSP00000424576:A544S	ENSP00000342181:A605S	A	+	1	0	SRP72	57061593	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.681000	0.46926	2.807000	0.96579	0.591000	0.81541	GCA	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250782.7		+	ENST00000342756.5	Missense_Mutation	SNP	4 : 57366836 - 57366836 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	44
MSLNL	401827	broad.mit.edu	37	16	819456	819456	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:819456C>T	ENST00000293892.3	-	16	3133	c.3134G>A	c.(3133-3135)cGc>cAc	p.R1045H	MSLNL_ENST00000442466.1_Missense_Mutation_p.R694H			Q96KJ4	MSLNL_HUMAN	mesothelin-like	694					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CCCAAGTGGGCGTCCAGCTGA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	80	76			NA	NA	16		NA											NA				819456		2049	4192	6241	SO:0001583	missense					16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006	401827	401827			14170	protein-coding gene	gene with protein product			chromosome 16 open reading frame 37	C16orf37	NA		Standard	NM_001025190	NG_032123	NA	Approved	MPFL		Q96KJ4		ENST00000293892.3:c.3134G>A	16.37:g.819456C>T	ENSP00000293892:p.Arg1045His	NA		37		.	.	.	.	.	.	.	.	.	.	C	3.391	-0.124381	0.06795	.	.	ENSG00000162006	ENST00000543963;ENST00000442466;ENST00000293892	T;T;T	0.19938	2.11;2.51;2.12	2.98	-5.47	0.02600	.	.	.	.	.	T	0.12178	0.0296	.	.	.	0.09310	N	1	B	0.21452	0.056	B	0.04013	0.001	T	0.31806	-0.9930	8	0.87932	D	0	.	4.8329	0.13449	0.0:0.2008:0.3172:0.482	.	694	Q96KJ4	MSLNL_HUMAN	H	744;694;1045	ENSP00000441381:R744H;ENSP00000415767:R694H;ENSP00000293892:R1045H	ENSP00000293892:R1045H	R	-	2	0	MSLNL	759457	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.901000	0.00338	-1.098000	0.03038	-0.693000	0.03709	CGC	MSLNL-201	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding			-	ENST00000293892.3	Missense_Mutation	SNP	16 : 819456 - 819456 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	316	85
IFNAR2	3455	broad.mit.edu	37	21	34635602	34635602	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34635602C>T	ENST00000342136.4	+	9	1671	c.1345C>T	c.(1345-1347)Cta>Tta	p.L449L	AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000404220.3_3'UTR|IFNAR2_ENST00000342101.3_3'UTR|IFNAR2_ENST00000382241.3_Silent_p.L449L			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	449					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	CCCTCTGATGCTATCGTCTCA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													257	258	258			NA	NA	21		NA											NA				34635602		2203	4300	6503	SO:0001819	synonymous_variant				CCDS13621.1, CCDS13622.1, CCDS74782.1	21q22.1	2010-08-17			ENSG00000159110	ENSG00000159110	3455	3455		Interferons	5433	protein-coding gene	gene with protein product		602376		IFNABR	NA	8181059	Standard		NM_207585	NA	Approved		uc002yrd.3	P48551	OTTHUMG00000065127	ENST00000342136.4:c.1345C>T	21.37:g.34635602C>T		NA	A8KAJ4|D3DSE8|D3DSE9|Q15467|Q6FHD7	37	CCDS13621.1																																																																																			IFNAR2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000139825.1		+	ENST00000342136.4	Silent	SNP	21 : 34635602 - 34635602 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1657	61
UBLCP1	134510	broad.mit.edu	37	5	158711927	158711927	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:158711927G>T	ENST00000296786.6	+	11	1271	c.945G>T	c.(943-945)aaG>aaT	p.K315N		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	315						nucleus	phosphoprotein phosphatase activity			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTCAAAGAAGCAAGGACAGT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	142	141			NA	NA	5		NA											NA				158711927		2203	4298	6501	SO:0001583	missense			AK057996	CCDS4345.1	5q33.3	2010-06-21			ENSG00000164332	ENSG00000164332	134510	134510	3.1.3.16	Serine/threonine phosphatases / CTD aspartate-based phosphatases	28110	protein-coding gene	gene with protein product	CTD phosphatase-like with ubiquitin domain 1	609867			NA	15883030	Standard	NM_145049	NM_145049	NA	Approved	MGC10067, CPUB1	uc003lxq.2	Q8WVY7	OTTHUMG00000130305	ENST00000296786.6:c.945G>T	5.37:g.158711927G>T	ENSP00000296786:p.Lys315Asn	NA	D3DQJ7|Q96DK5	37	CCDS4345.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.046228	0.36085	.	.	ENSG00000164332	ENST00000296786	.	.	.	5.89	5.02	0.67125	.	0.150396	0.64402	N	0.000012	T	0.45617	0.1351	L	0.31752	0.955	0.51233	D	0.999913	B	0.20780	0.048	B	0.24006	0.05	T	0.35724	-0.9777	9	0.36615	T	0.2	-15.6052	11.6009	0.51001	0.1425:0.0:0.8575:0.0	.	315	Q8WVY7	UBCP1_HUMAN	N	315	.	ENSP00000296786:K315N	K	+	3	2	UBLCP1	158644505	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	3.544000	0.53640	1.493000	0.48517	0.643000	0.83706	AAG	UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252650.2		+	ENST00000296786.6	Missense_Mutation	SNP	5 : 158711927 - 158711927 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	41
LAMA4	3910	broad.mit.edu	37	6	112440429	112440429	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112440429G>A	ENST00000230538.7	-	34	5148	c.4751C>T	c.(4750-4752)gCt>gTt	p.A1584V	LAMA4_ENST00000424408.2_Missense_Mutation_p.A1577V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A1577V|LAMA4_ENST00000389463.4_Missense_Mutation_p.A1577V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1584	Laminin G-like 4.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTTCCAGGTAGCTTCAGTAGG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	118	120			NA	NA	6		NA											NA				112440429		2203	4300	6503	SO:0001583	missense				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769	3910	3910		Laminins	6484	protein-coding gene	gene with protein product		600133			NA	7959779	Standard	NM_001105206	NM_001105206	NA	Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.4751C>T	6.37:g.112440429G>A	ENSP00000230538:p.Ala1584Val	NA	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	37	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	9.054	0.992833	0.18966	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.69	3.93	0.45458	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.564410	0.19944	N	0.102587	T	0.29093	0.0723	N	0.03608	-0.345	0.09310	N	0.999999	B;B	0.10296	0.003;0.002	B;B	0.12837	0.008;0.004	T	0.18999	-1.0319	10	0.26408	T	0.33	.	4.9725	0.14123	0.2293:0.0:0.5884:0.1824	.	1584;1577	Q16363;Q16363-2	LAMA4_HUMAN;.	V	1584;1577;1577;1577	ENSP00000230538:A1584V;ENSP00000429488:A1577V;ENSP00000374114:A1577V;ENSP00000416470:A1577V	ENSP00000230538:A1584V	A	-	2	0	LAMA4	112547122	0.023000	0.18921	0.278000	0.24718	0.904000	0.53231	1.616000	0.36933	0.775000	0.33450	-0.263000	0.10527	GCT	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041876.2		-	ENST00000230538.7	Missense_Mutation	SNP	6 : 112440429 - 112440429 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	585	114
BAZ2B	29994	broad.mit.edu	37	2	160243016	160243016	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160243016A>C	ENST00000392783.2	-	22	3814	c.3319T>G	c.(3319-3321)Ttg>Gtg	p.L1107V	BAZ2B_ENST00000355831.2_Missense_Mutation_p.L1073V|BAZ2B_ENST00000343439.5_Missense_Mutation_p.L1007V|BAZ2B_ENST00000392782.1_Missense_Mutation_p.L1071V|AC008277.1_ENST00000420020.1_RNA	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1107	DDT.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TCAAAGCCCAAAACTTTACCA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	98	102			NA	NA	2		NA											NA				160243016		1868	4124	5992	SO:0001583	missense			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636	29994	29994		Zinc fingers, PHD-type	963	protein-coding gene	gene with protein product		605683			NA	10662543	Standard		XM_005246488	NA	Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.3319T>G	2.37:g.160243016A>C	ENSP00000376534:p.Leu1107Val	NA	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	37	CCDS2209.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.80|18.80	3.701099|3.701099	0.68501|0.68501	.|.	.|.	ENSG00000123636|ENSG00000123636	ENST00000294905|ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	.|T;T;T;T	.|0.80824	.|-1.42;-1.37;-1.42;-1.39	6.08|6.08	4.95|4.95	0.65309|0.65309	.|DDT domain superfamily (1);DDT domain, subgroup (1);DDT domain (1);	.|0.000000	.|0.29273	.|U	.|0.012630	D|D	0.86814|0.86814	0.6023|0.6023	M|M	0.76574|0.76574	2.34|2.34	0.47476|0.47476	D|D	0.999432|0.999432	.|D;D	.|0.89917	.|0.998;1.0	.|D;D	.|0.91635	.|0.996;0.999	D|D	0.87143|0.87143	0.2204|0.2204	5|10	.|0.87932	.|D	.|0	-5.2789|-5.2789	5.7051|5.7051	0.17903|0.17903	0.8223:0.0:0.1777:0.0|0.8223:0.0:0.1777:0.0	.|.	.|1071;1107	.|Q9UIF8-5;Q9UIF8	.|.;BAZ2B_HUMAN	C|V	167|1071;1107;1073;1007	.|ENSP00000376533:L1071V;ENSP00000376534:L1107V;ENSP00000348087:L1073V;ENSP00000339670:L1007V	.|ENSP00000339670:L1007V	F|L	-|-	2|1	0|2	BAZ2B|BAZ2B	159951262|159951262	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.021000|4.021000	0.57196|0.57196	2.333000|2.333000	0.79357|0.79357	0.482000|0.482000	0.46254|0.46254	TTT|TTG	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255037.2		-	ENST00000392783.2	Missense_Mutation	SNP	2 : 160243016 - 160243016 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	635	149
MAGEB16	139604	broad.mit.edu	37	X	35820491	35820491	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:35820491A>C	ENST00000399989.1	+	2	457	c.178A>C	c.(178-180)Agt>Cgt	p.S60R	MAGEB16_ENST00000399985.1_Missense_Mutation_p.S60R|MAGEB16_ENST00000399988.1_Missense_Mutation_p.S60R|MAGEB16_ENST00000399992.1_Missense_Mutation_p.S92R|MAGEB16_ENST00000399987.1_Missense_Mutation_p.S60R	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	60										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TAAGGCAGAGAGTCCTCTTGA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	44	45			NA	NA	X		NA											NA				35820491		1955	4120	6075	SO:0001583	missense				CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023	139604	139604			21188	protein-coding gene	gene with protein product		300762	melanoma antigen family B, 16 (pseudogene)		NA	11454705	Standard		NM_001099921	NA	Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.178A>C	X.37:g.35820491A>C	ENSP00000382871:p.Ser60Arg	NA	A8MU30	37	CCDS43927.1	.	.	.	.	.	.	.	.	.	.	A	8.872	0.949479	0.18356	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.06687	3.27;3.27;3.27;3.27;3.27	3.13	1.92	0.25849	Melanoma associated antigen, MAGE, N-terminal (1);	2.483160	0.01875	N	0.037471	T	0.13372	0.0324	L	0.53561	1.675	0.09310	N	1	B	0.32324	0.364	B	0.37943	0.261	T	0.30387	-0.9980	10	0.56958	D	0.05	.	5.7376	0.18075	0.7239:0.2761:0.0:0.0	.	60	A2A368	MAGBG_HUMAN	R	60;92;60;60;60	ENSP00000382870:S60R;ENSP00000382874:S92R;ENSP00000382869:S60R;ENSP00000382871:S60R;ENSP00000382867:S60R	ENSP00000382867:S60R	S	+	1	0	MAGEB16	35730412	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.012000	0.12699	0.444000	0.26612	0.423000	0.28283	AGT	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251034.1		+	ENST00000399989.1	Missense_Mutation	SNP	X : 35820491 - 35820491 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	70	18
SAMD9L	219285	broad.mit.edu	37	7	92761865	92761865	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92761865G>T	ENST00000318238.4	-	5	4636	c.3420C>A	c.(3418-3420)aaC>aaA	p.N1140K	SAMD9L_ENST00000411955.1_Missense_Mutation_p.N1140K|SAMD9L_ENST00000437805.1_Missense_Mutation_p.N1140K	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1140								p.N1140N(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGCTCCTACAGTTTTTGTTCC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											114	118	116			NA	NA	7		NA											NA				92761865		2203	4299	6502	SO:0001583	missense			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409	219285	219285		Sterile alpha motif (SAM) domain containing	1349	protein-coding gene	gene with protein product		611170	chromosome 7 open reading frame 6	C7orf6	NA		Standard	NM_152703	NM_152703	NA	Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.3420C>A	7.37:g.92761865G>T	ENSP00000326247:p.Asn1140Lys	NA	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	37	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.018784	0.00418	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.20881	2.04;2.04;2.04	4.88	-1.8	0.07907	.	0.250073	0.29369	N	0.012357	T	0.06781	0.0173	N	0.16368	0.405	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.32348	-0.9910	10	0.02654	T	1	-0.4434	1.9203	0.03306	0.1395:0.1944:0.276:0.3901	.	1140	Q8IVG5	SAM9L_HUMAN	K	1140	ENSP00000326247:N1140K;ENSP00000405760:N1140K;ENSP00000408796:N1140K	ENSP00000326247:N1140K	N	-	3	2	SAMD9L	92599801	0.000000	0.05858	0.000000	0.03702	0.415000	0.31203	-1.330000	0.02675	-0.013000	0.14199	0.467000	0.42956	AAC	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341730.1		-	ENST00000318238.4	Missense_Mutation	SNP	7 : 92761865 - 92761865 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	850	176
SERPINB12	89777	broad.mit.edu	37	18	61231236	61231236	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61231236G>T	ENST00000382768.1	+	5	588	c.588G>T	c.(586-588)aaG>aaT	p.K196N	SERPINB12_ENST00000269491.1_Missense_Mutation_p.K176N			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	176					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TCTTCAGCAAGGACGCTATTA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													186	164	171			NA	NA	18		NA											NA				61231236		2203	4300	6503	SO:0001583	missense			AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634	89777	89777		Serine (or cysteine) peptidase inhibitors	14220	protein-coding gene	gene with protein product		615662	serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12		NA	24172014	Standard	NM_080474	NM_080474	NA	Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000382768.1:c.588G>T	18.37:g.61231236G>T	ENSP00000372218:p.Lys196Asn	NA		37	CCDS11984.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894220	0.52121	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.84873	-1.91;-1.91	5.57	2.78	0.32641	Serpin domain (3);	0.358223	0.27035	N	0.021254	D	0.82444	0.5038	L	0.53729	1.69	0.24583	N	0.993861	B;P	0.40578	0.324;0.722	B;P	0.46172	0.31;0.506	T	0.71178	-0.4669	10	0.30854	T	0.27	.	7.3732	0.26813	0.4014:0.0:0.5986:0.0	.	196;176	Q3SYB4;Q96P63	.;SPB12_HUMAN	N	176;196	ENSP00000269491:K176N;ENSP00000372218:K196N	ENSP00000269491:K176N	K	+	3	2	SERPINB12	59382216	0.000000	0.05858	0.945000	0.38365	0.902000	0.53008	-0.617000	0.05584	0.834000	0.34852	0.655000	0.94253	AAG	SERPINB12-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280623.1		+	ENST00000382768.1	Missense_Mutation	SNP	18 : 61231236 - 61231236 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	652	104
RTP4	64108	broad.mit.edu	37	3	187088613	187088613	+	Missense_Mutation	SNP	G	G	A	rs142974092	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:187088613G>A	ENST00000259030.2	+	2	303	c.193G>A	c.(193-195)Gcc>Acc	p.A65T		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	65					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		TTGGGCTTCCGCCCAAGTGCA	0.552		NA											G	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	EXOME	NA	NA	3e-04	SNP								NA				0								G	THR/ALA	27,4379	33.5+/-64.1	0,27,2176	53	47	49		193	3	0.2	3	dbSNP_134	49	2,8598	2.2+/-6.3	0,2,4298	yes	missense	RTP4	NM_022147.2	58	0,29,6474	AA,AG,GG	NA	0.0233,0.6128,0.223	probably-damaging	65/247	187088613	29,12977	2203	4300	6503	SO:0001583	missense			BC013161	CCDS33910.1	3q27.3	2014-02-20	2006-11-21		ENSG00000136514	ENSG00000136514	64108	64108		Receptor transporter proteins	23992	protein-coding gene	gene with protein product	zinc finger, 3CxxC-type 4	609350	receptor transporter protein 4		NA	16271481, 15550249, 16720576	Standard	NM_022147	NM_022147	NA	Approved	IFRG28, Z3CXXC4	uc003frm.3	Q96DX8	OTTHUMG00000156459	ENST00000259030.2:c.193G>A	3.37:g.187088613G>A	ENSP00000259030:p.Ala65Thr	NA	Q9H4F3	37	CCDS33910.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.44	2.237428	0.39498	0.006128	2.33E-4	ENSG00000136514	ENST00000259030	T	0.24350	1.86	3.89	3.0	0.34707	.	0.167493	0.52532	D	0.000073	T	0.40473	0.1118	M	0.82823	2.61	0.21290	N	0.999739	D	0.89917	1.0	D	0.78314	0.991	T	0.19386	-1.0307	10	0.45353	T	0.12	-19.4826	8.8881	0.35416	0.0:0.0:0.7776:0.2224	.	65	Q96DX8	RTP4_HUMAN	T	65	ENSP00000259030:A65T	ENSP00000259030:A65T	A	+	1	0	RTP4	188571307	0.942000	0.31987	0.177000	0.23020	0.036000	0.12997	5.311000	0.65786	1.213000	0.43380	0.655000	0.94253	GCC	RTP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344260.1		+	ENST00000259030.2	Missense_Mutation	SNP	3 : 187088613 - 187088613 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	154	9
TNC	3371	broad.mit.edu	37	9	117848462	117848462	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117848462G>A	ENST00000341037.4	-	2	1676	c.1548C>T	c.(1546-1548)tgC>tgT	p.C516C	TNC_ENST00000535648.1_Silent_p.C516C|TNC_ENST00000542877.1_Silent_p.C516C|TNC_ENST00000340094.3_Silent_p.C516C|TNC_ENST00000346706.3_Silent_p.C516C|TNC_ENST00000423613.2_Silent_p.C516C|TNC_ENST00000537320.1_Silent_p.C516C|TNC_ENST00000345230.3_Silent_p.C516C|TNC_ENST00000350763.4_Silent_p.C516C			P24821	TENA_HUMAN	tenascin C	516	EGF-like 12.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCTCACAGACGCACTGTCCGT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	78	82			NA	NA	9		NA											NA				117848462		2203	4300	6503	SO:0001819	synonymous_variant				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982	3371	3371		Fibrinogen C domain containing, Fibronectin type III domain containing	5318	protein-coding gene	gene with protein product	hexabrachion (tenascin)	187380	hexabrachion (tenascin C, cytotactin), deafness, autosomal dominant 56	HXB, DFNA56	NA	1704365, 1707164, 23936043	Standard	NM_002160	NM_002160	NA	Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000341037.4:c.1548C>T	9.37:g.117848462G>A		NA	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	37																																																																																				TNC-011	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000397659.2		-	ENST00000341037.4	Silent	SNP	9 : 117848462 - 117848462 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	467	80
DMAP1	55929	broad.mit.edu	37	1	44684367	44684367	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44684367T>C	ENST00000372289.2	+	5	923	c.660T>C	c.(658-660)gcT>gcC	p.A220A	DMAP1_ENST00000315913.5_Silent_p.A220A|DMAP1_ENST00000488433.1_3'UTR|DMAP1_ENST00000361745.6_Silent_p.A220A	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	220					DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					TATTTGATGCTGGGCACGAAC	0.567		NA									OREG0013437	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	114	116			NA	NA	1		NA											NA				44684367		2203	4300	6503	SO:0001819	synonymous_variant			AB037846	CCDS509.1	1p34	2009-07-13			ENSG00000178028	ENSG00000178028	55929	55929			18291	protein-coding gene	gene with protein product		605077			NA	10888872, 10718198	Standard	NM_019100	XM_005271039	NA	Approved	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4	uc001clq.1	Q9NPF5	OTTHUMG00000007577	ENST00000372289.2:c.660T>C	1.37:g.44684367T>C		925	A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	37	CCDS509.1																																																																																			DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000020027.3		+	ENST00000372289.2	Silent	SNP	1 : 44684367 - 44684367 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	430	100
GRM5	2915	broad.mit.edu	37	11	88780583	88780583	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88780583G>T	ENST00000305447.4	-	1	607	c.458C>A	c.(457-459)tCt>tAt	p.S153Y	GRM5_ENST00000455756.2_Missense_Mutation_p.S153Y|GRM5_ENST00000418177.2_Missense_Mutation_p.S153Y|GRM5_ENST00000393297.1_Missense_Mutation_p.S153Y|GRM5_ENST00000305432.5_Missense_Mutation_p.S153Y|GRM5_ENST00000393294.3_Missense_Mutation_p.S153Y	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	153					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	AATGGCTACAGAACTGGAGCC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	54	55			NA	NA	11		NA											NA				88780583		2201	4299	6500	SO:0001583	missense			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959	2915	2915		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4597	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 86	604102			NA	7908515	Standard	NM_000842	NM_001143831	NA	Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.458C>A	11.37:g.88780583G>T	ENSP00000306138:p.Ser153Tyr	NA		37	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341825	0.81911	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297;ENST00000393294	D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	5.4	5.4	0.78164	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.92506	0.7620	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.992;0.999;0.998	D	0.93017	0.6437	9	.	.	.	.	19.1788	0.93614	0.0:0.0:1.0:0.0	.	153;153;153	A8MT20;P41594-2;P41594	.;.;GRM5_HUMAN	Y	153	ENSP00000402912:S153Y;ENSP00000405690:S153Y;ENSP00000305905:S153Y;ENSP00000306138:S153Y;ENSP00000376975:S153Y;ENSP00000376972:S153Y	.	S	-	2	0	GRM5	88420231	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.713000	0.84693	2.514000	0.84764	0.563000	0.77884	TCT	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000259226.1		-	ENST00000305447.4	Missense_Mutation	SNP	11 : 88780583 - 88780583 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	335	31
HDX	139324	broad.mit.edu	37	X	83724000	83724000	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:83724000C>T	ENST00000297977.5	-	3	842	c.731G>A	c.(730-732)tGt>tAt	p.C244Y	HDX_ENST00000373177.2_Missense_Mutation_p.C244Y|HDX_ENST00000506585.2_Missense_Mutation_p.C186Y	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	244						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CTTTTGCCCACATAAGTTATG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(53;231 1169 36156 43751 51139)							NA				0													105	95	98			NA	NA	X		NA											NA				83724000		2203	4300	6503	SO:0001583	missense			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259	139324	139324		Homeoboxes / POU class	26411	protein-coding gene	gene with protein product			chromosome X open reading frame 43	CXorf43	NA		Standard	NM_144657	NM_144657	NA	Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.731G>A	X.37:g.83724000C>T	ENSP00000297977:p.Cys244Tyr	NA	A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	37	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.449416	0.01080	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585;ENST00000449553	T;T;T;T	0.46819	1.49;1.47;1.49;0.86	4.92	0.521	0.17046	.	0.497395	0.22711	N	0.056571	T	0.32436	0.0829	L	0.36672	1.1	0.21105	N	0.999789	B	0.02656	0.0	B	0.01281	0.0	T	0.20974	-1.0259	10	0.52906	T	0.07	-4.1839	6.6564	0.22990	0.0:0.5189:0.1906:0.2904	.	244	Q7Z353	HDX_HUMAN	Y	244;186;244;186	ENSP00000297977:C244Y;ENSP00000362272:C186Y;ENSP00000423670:C244Y;ENSP00000387790:C186Y	ENSP00000297977:C244Y	C	-	2	0	HDX	83610656	0.967000	0.33354	0.938000	0.37757	0.539000	0.34962	0.444000	0.21661	0.133000	0.18654	-0.273000	0.10243	TGT	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057379.2		-	ENST00000297977.5	Missense_Mutation	SNP	X : 83724000 - 83724000 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	477	146
KDELC2	143888	broad.mit.edu	37	11	108356977	108356977	+	Silent	SNP	C	C	T	rs145604569	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108356977C>T	ENST00000434945.2	-	2	725	c.423G>A	c.(421-423)acG>acA	p.T141T	KDELC2_ENST00000375648.1_Silent_p.T141T|KDELC2_ENST00000323468.5_Silent_p.T197T			Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	197						endoplasmic reticulum lumen				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TATTGAGAATCGTGTAATGAA	0.398		NA											C	6	0.0027	NA	NA	2184	0.01	0.9996	,	,	NA	3e-04	NA	NA	NA	0.0028	0.9416	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0													182	164	170			NA	NA	11		NA											NA				108356977		1858	4092	5950	SO:0001819	synonymous_variant			AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202	143888	143888			28496	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_153705	NM_153705	NA	Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000434945.2:c.423G>A	11.37:g.108356977C>T		NA	Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	37																																																																																				KDELC2-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000390274.1		-	ENST00000434945.2	Silent	SNP	11 : 108356977 - 108356977 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	575	103
WWOX	51741	broad.mit.edu	37	16	78149014	78149014	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:78149014C>T	ENST00000566780.1	+	4	738	c.372C>T	c.(370-372)ggC>ggT	p.G124G	WWOX_ENST00000539474.2_Silent_p.G124G|WWOX_ENST00000355860.3_Silent_p.G124G|WWOX_ENST00000402655.2_Silent_p.G124G|WWOX_ENST00000408984.3_Silent_p.G124G|WWOX_ENST00000406884.2_Silent_p.G124G	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	124					apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		ATTTCACTGGCAAAGTGGTTG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	94	94			NA	NA	16		NA											NA				78149014		1857	4095	5952	SO:0001819	synonymous_variant			AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	51741	51741	1.1.1.-	Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2	12799	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 41C, member 1	605131	WW domain-containing oxidoreductase		NA	10786676, 10861292, 19027726	Standard		XR_243411	NA	Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.372C>T	16.37:g.78149014C>T		NA	A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	37	CCDS42196.1																																																																																			WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434328.1		+	ENST00000566780.1	Silent	SNP	16 : 78149014 - 78149014 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	609	149
ADAMTS7	11173	broad.mit.edu	37	15	79082066	79082066	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79082066C>T	ENST00000388820.4	-	7	1353	c.1143G>A	c.(1141-1143)ccG>ccA	p.P381P	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	381	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TGAAGGCCAGCGGCAGGCCCG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	29	30			NA	NA	15		NA											NA				79082066		2196	4292	6488	SO:0001819	synonymous_variant			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378	11173	11173		ADAM metallopeptidases with thrombospondin type 1 motif	223	protein-coding gene	gene with protein product	COMPase, a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein	605009	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7		NA	10464288	Standard	NM_014272	NM_014272	NA	Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.1143G>A	15.37:g.79082066C>T		NA	Q14F51|Q6P7J9	37	CCDS32303.1																																																																																			ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421331.1		-	ENST00000388820.4	Silent	SNP	15 : 79082066 - 79082066 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	146	27
MED13	9969	broad.mit.edu	37	17	60062374	60062374	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60062374C>T	ENST00000397786.2	-	13	2539	c.2463G>A	c.(2461-2463)ccG>ccA	p.P821P		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	821					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGCAAGATAACGGGTCCAGAT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													208	194	198			NA	NA	17		NA											NA				60062374		1843	4090	5933	SO:0001819	synonymous_variant			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510	9969	9969			22474	protein-coding gene	gene with protein product		603808	thyroid hormone receptor associated protein 1	THRAP1	NA	1019863	Standard	NM_005121	NM_005121	NA	Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.2463G>A	17.37:g.60062374C>T		NA	B2RU05|O60334	37	CCDS42366.1																																																																																			MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445461.1		-	ENST00000397786.2	Silent	SNP	17 : 60062374 - 60062374 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	844	133
PCDHA10	56139	broad.mit.edu	37	5	140237378	140237378	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140237378G>A	ENST00000307360.5	+	1	1745	c.1745G>A	c.(1744-1746)cGg>cAg	p.R582Q	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018901.2	NP_061724.1			protocadherin alpha 10	NA										NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGCTGCGGTCGGTGGTT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	71	73			NA	NA	5		NA											NA				140237378		1322	2290	3612	SO:0001583	missense			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120	56139	56139		Cadherins / Protocadherins : Clustered	8664	other	complex locus constituent	KIAA0345-like 4, ortholog to mouse CNR8	606316		CNRS8	NA	10380929	Standard	NM_018901	NM_018901	NA	Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1745G>A	5.37:g.140237378G>A	ENSP00000304234:p.Arg582Gln	NA		37	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	6.499	0.460291	0.12342	.	.	ENSG00000250120	ENST00000307360	T	0.37915	1.17	3.68	3.68	0.42216	Cadherin-like (1);	.	.	.	.	T	0.25901	0.0631	L	0.39467	1.215	0.09310	N	1	P;B	0.40266	0.71;0.373	B;B	0.31495	0.131;0.089	T	0.14200	-1.0481	9	0.54805	T	0.06	.	9.7713	0.40591	0.0966:0.0:0.9034:0.0	.	582;582	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	Q	582	ENSP00000304234:R582Q	ENSP00000304234:R582Q	R	+	2	0	PCDHA10	140217562	0.000000	0.05858	0.064000	0.19789	0.003000	0.03518	-0.028000	0.12350	2.041000	0.60428	0.491000	0.48974	CGG	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372895.2		+	ENST00000307360.5	Missense_Mutation	SNP	5 : 140237378 - 140237378 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	426	91
NDUFAF3	25915	broad.mit.edu	37	3	49060138	49060138	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49060138G>A	ENST00000326925.6	+	3	1408	c.274G>A	c.(274-276)Gga>Aga	p.G92R	NDUFAF3_ENST00000326912.4_Missense_Mutation_p.G35R|NDUFAF3_ENST00000395458.2_Missense_Mutation_p.G35R|NDUFAF3_ENST00000451378.2_Missense_Mutation_p.G35R	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	92					mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						TGCACAGGTGGGATCCCACCA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													170	169	169			NA	NA	3		NA											NA				49060138		2203	4300	6503	SO:0001583	missense				CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057	25915	25915		Mitochondrial respiratory chain complex assembly factors	29918	protein-coding gene	gene with protein product		612911	chromosome 3 open reading frame 60, NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3	C3orf60	NA	12653254, 9349717	Standard	NM_199069	NM_199069	NA	Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773	ENST00000326925.6:c.274G>A	3.37:g.49060138G>A	ENSP00000323076:p.Gly92Arg	NA		37	CCDS2784.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876088	0.91664	.	.	ENSG00000178057	ENST00000326912;ENST00000326925;ENST00000395458;ENST00000451378	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.81569	0.4850	L	0.36672	1.1	0.80722	D	1	D	0.54964	0.969	D	0.63597	0.916	T	0.76069	-0.3094	10	0.15952	T	0.53	-13.5357	18.9288	0.92556	0.0:0.0:1.0:0.0	.	92	Q9BU61	NDUF3_HUMAN	R	35;92;35;35	ENSP00000323003:G35R;ENSP00000323076:G92R;ENSP00000378843:G35R;ENSP00000402465:G35R	ENSP00000323003:G35R	G	+	1	0	NDUFAF3	49035142	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.230000	0.95299	2.567000	0.86603	0.591000	0.81541	GGA	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345683.2		+	ENST00000326925.6	Missense_Mutation	SNP	3 : 49060138 - 49060138 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1399	110
TINAG	27283	broad.mit.edu	37	6	54173618	54173618	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54173618A>C	ENST00000259782.4	+	1	366	c.270A>C	c.(268-270)gaA>gaC	p.E90D	TINAG_ENST00000370864.3_Missense_Mutation_p.E72D|TINAG_ENST00000370869.3_Missense_Mutation_p.E86D|TINAG_ENST00000486436.1_3'UTR	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	90	SMB.				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GTGACAGAGAAAATTCTGATT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													197	187	191			NA	NA	6		NA											NA				54173618		2203	4300	6503	SO:0001583	missense			AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251	27283	27283			14599	protein-coding gene	gene with protein product		606749			NA	10652240	Standard	NM_014464	NM_014464	NA	Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.270A>C	6.37:g.54173618A>C	ENSP00000259782:p.Glu90Asp	NA	Q5T467|Q9UJW1|Q9ULZ4	37	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	A	7.050	0.564316	0.13498	.	.	ENSG00000137251	ENST00000370869;ENST00000339741;ENST00000259782;ENST00000370864	T;T;T	0.41758	0.99;0.99;0.99	5.09	1.03	0.20045	Somatomedin B domain (4);	0.300007	0.29185	N	0.012887	T	0.06416	0.0165	N	0.19112	0.55	0.23391	N	0.997775	B;B	0.09022	0.001;0.002	B;B	0.16289	0.011;0.015	T	0.40534	-0.9558	10	0.07175	T	0.84	.	5.8169	0.18497	0.4518:0.4473:0.1009:0.0	.	90;90	Q9UJW2;Q7Z477	TINAG_HUMAN;.	D	86;90;90;72	ENSP00000359906:E86D;ENSP00000259782:E90D;ENSP00000359901:E72D	ENSP00000259782:E90D	E	+	3	2	TINAG	54281577	1.000000	0.71417	0.991000	0.47740	0.980000	0.70556	0.602000	0.24134	-0.085000	0.12573	0.402000	0.26972	GAA	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040984.1		+	ENST00000259782.4	Missense_Mutation	SNP	6 : 54173618 - 54173618 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	652	120
MYEF2	50804	broad.mit.edu	37	15	48441415	48441415	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48441415C>T	ENST00000324324.7	-	15	1811	c.1532G>A	c.(1531-1533)gGa>gAa	p.G511E	MYEF2_ENST00000267836.6_Missense_Mutation_p.G487E	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	511	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		CATTCCGCTTCCCATTGGACC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	117	118			NA	NA	15		NA											NA				48441415		2198	4296	6494	SO:0001583	missense			AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177	50804	50804		RNA binding motif (RRM) containing	17940	protein-coding gene	gene with protein product					NA	10718198, 2601707	Standard	NM_016132	XM_005254422	NA	Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.1532G>A	15.37:g.48441415C>T	ENSP00000316950:p.Gly511Glu	NA	A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	37	CCDS32230.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417490	0.62622	.	.	ENSG00000104177	ENST00000324324;ENST00000267836;ENST00000454655	T;T	0.26660	2.21;1.72	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.43634	0.1256	L	0.43923	1.385	0.80722	D	1	D;D	0.67145	0.996;0.994	D;P	0.65573	0.936;0.864	T	0.38929	-0.9638	10	0.72032	D	0.01	-10.7172	18.4822	0.90817	0.0:1.0:0.0:0.0	.	487;511	Q9P2K5-2;Q9P2K5	.;MYEF2_HUMAN	E	511;487;99	ENSP00000316950:G511E;ENSP00000267836:G487E	ENSP00000267836:G487E	G	-	2	0	MYEF2	46228707	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.477000	0.60223	2.539000	0.85634	0.585000	0.79938	GGA	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416909.2		-	ENST00000324324.7	Missense_Mutation	SNP	15 : 48441415 - 48441415 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	805	155
RAB1B	81876	broad.mit.edu	37	11	66043577	66043577	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66043577C>T	ENST00000311481.6	+	6	621	c.474C>T	c.(472-474)gtC>gtT	p.V158V	RP11-867G23.3_ENST00000501708.1_lincRNA|RAB1B_ENST00000527397.1_Silent_p.V126V	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	158					protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						CCACCAATGTCGAGCAGGCGT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	47	48			NA	NA	11		NA											NA				66043577		2200	4295	6495	SO:0001819	synonymous_variant			AJ245875	CCDS31613.1	11q13.1	2008-02-05			ENSG00000174903	ENSG00000174903	81876	81876		RAB, member RAS oncogene	18370	protein-coding gene	gene with protein product		612565			NA	9030196	Standard	NM_030981	NM_030981	NA	Approved		uc001ohf.3	Q9H0U4	OTTHUMG00000166916	ENST00000311481.6:c.474C>T	11.37:g.66043577C>T		NA	A8K7S1	37	CCDS31613.1	.	.	.	.	.	.	.	.	.	.	C	5.147	0.212752	0.09757	.	.	ENSG00000174903	ENST00000314965	.	.	.	3.9	-7.79	0.01218	.	.	.	.	.	T	0.48857	0.1523	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59332	-0.7474	5	0.52906	T	0.07	.	2.8061	0.05428	0.1647:0.0972:0.3771:0.361	.	.	.	.	L	158	.	ENSP00000313814:S158L	S	+	2	0	RAB1B	65800153	0.002000	0.14202	0.181000	0.23098	0.807000	0.45602	-1.994000	0.01474	-3.387000	0.00174	0.313000	0.20887	TCG	RAB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391886.2		+	ENST00000311481.6	Silent	SNP	11 : 66043577 - 66043577 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	156	27
LCMT1	51451	broad.mit.edu	37	16	25189343	25189343	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25189343A>G	ENST00000399069.3	+	11	1159	c.1004A>G	c.(1003-1005)tAa>tGa	p.*335*	LCMT1_ENST00000380966.4_Silent_p.*280*|LCMT1_ENST00000572869.1_3'UTR	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	0							protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity				NA				GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	ATAACTTATTAATCTGTCGAA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(200;565 2072 24396 47922 50898)							NA				0													75	80	79			NA	NA	16		NA											NA				25189343		1892	4125	6017	SO:0001819	synonymous_variant			AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629	51451	51451			17557	protein-coding gene	gene with protein product	protein phosphatase methyltransferase 1	610286			NA	10810093	Standard	NM_016309	XM_005255354	NA	Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.1004A>G	16.37:g.25189343A>G		NA	A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	37	CCDS45445.1																																																																																			LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000435747.4		+	ENST00000399069.3	Silent	SNP	16 : 25189343 - 25189343 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	536	109
CEP128	145508	broad.mit.edu	37	14	81329141	81329141	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:81329141C>T	ENST00000555265.1	-	9	1097	c.722G>A	c.(721-723)cGc>cAc	p.R241H	CEP128_ENST00000216517.6_Missense_Mutation_p.R241H|CEP128_ENST00000281129.3_Missense_Mutation_p.R241H			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	241						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TTGATCCTGGCGTCTTTCCAC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	117	124			NA	NA	14		NA											NA				81329141		2203	4300	6503	SO:0001583	missense			AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629	145508	145508			20359	protein-coding gene	gene with protein product			chromosome 14 open reading frame 61, chromosome 14 open reading frame 145	C14orf61, C14orf145	NA	21399614	Standard	NM_152446	NM_152446	NA	Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.722G>A	14.37:g.81329141C>T	ENSP00000451162:p.Arg241His	NA	B9EK52|Q86X97|Q96ML4	37	CCDS32130.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.96|14.96	2.692058|2.692058	0.48097|0.48097	.|.	.|.	ENSG00000100629|ENSG00000100629	ENST00000554827|ENST00000281129;ENST00000555265;ENST00000393619;ENST00000216517	.|T;T;T	.|0.55930	.|1.13;1.13;0.49	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	.|0.155258	.|0.45606	.|D	.|0.000341	T|T	0.59252|0.59252	0.2180|0.2180	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.67145	.|0.925;0.988;0.996	.|B;P;P	.|0.57371	.|0.271;0.737;0.819	T|T	0.53913|0.53913	-0.8371|-0.8371	5|10	.|0.33940	.|T	.|0.23	.|.	12.7223|12.7223	0.57149|0.57149	0.0:0.9243:0.0:0.0757|0.0:0.9243:0.0:0.0757	.|.	.|241;122;241	.|Q6ZU80-3;Q8N3Z7;Q6ZU80	.|.;.;CE128_HUMAN	T|H	120|241	.|ENSP00000281129:R241H;ENSP00000451162:R241H;ENSP00000216517:R241H	.|ENSP00000216517:R241H	A|R	-|-	1|2	0|0	CEP128|CEP128	80398894|80398894	0.924000|0.924000	0.31332|0.31332	0.947000|0.947000	0.38551|0.38551	0.019000|0.019000	0.09904|0.09904	1.774000|1.774000	0.38573|0.38573	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GCC|CGC	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413415.1		-	ENST00000555265.1	Missense_Mutation	SNP	14 : 81329141 - 81329141 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	624	106
SYNE1	23345	broad.mit.edu	37	6	152642447	152642447	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152642447G>T	ENST00000367255.5	-	84	16763	c.16162C>A	c.(16162-16164)Ctt>Att	p.L5388I	SYNE1_ENST00000448038.1_Missense_Mutation_p.L5317I|SYNE1_ENST00000423061.1_Missense_Mutation_p.L5317I|SYNE1_ENST00000341594.5_Missense_Mutation_p.L5061I|SYNE1_ENST00000265368.4_Missense_Mutation_p.L5388I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5388					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATGGTATAAAGACCTAAGTAC	0.388		NA								HNSCC(10;0.0054)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	98	100			NA	NA	6		NA											NA				152642447		2203	4300	6503	SO:0001583	missense			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018	23345	23345			17089	protein-coding gene	gene with protein product	myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1	608441	chromosome 6 open reading frame 98	C6orf98	NA	9872452, 10878022	Standard	NM_182961	NM_182961	NA	Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.16162C>A	6.37:g.152642447G>T	ENSP00000356224:p.Leu5388Ile	NA	O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623989	0.46840	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.57273	0.5;0.5;0.41;0.5;0.48	5.47	4.6	0.57074	.	0.000000	0.50627	D	0.000102	T	0.49287	0.1548	M	0.70275	2.135	0.80722	D	1	P;P;P;P	0.45044	0.849;0.598;0.598;0.72	P;B;B;P	0.52217	0.693;0.411;0.411;0.616	T	0.52997	-0.8500	10	0.42905	T	0.14	.	9.3984	0.38417	0.0727:0.0:0.7852:0.1422	.	5388;5388;5388;5317	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	I	5388;5317;5388;5317;5061	ENSP00000356224:L5388I;ENSP00000396024:L5317I;ENSP00000265368:L5388I;ENSP00000390975:L5317I;ENSP00000341887:L5061I	ENSP00000265368:L5388I	L	-	1	0	SYNE1	152684140	1.000000	0.71417	0.634000	0.29324	0.879000	0.50718	2.872000	0.48467	1.299000	0.44798	0.655000	0.94253	CTT	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334755.2		-	ENST00000367255.5	Missense_Mutation	SNP	6 : 152642447 - 152642447 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	223	42
PXK	54899	broad.mit.edu	37	3	58383343	58383343	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58383343T>C	ENST00000463280.1	+	9	988	c.897T>C	c.(895-897)agT>agC	p.S299S	PXK_ENST00000536660.1_Silent_p.S195S|PXK_ENST00000479241.1_Silent_p.S315S|PXK_ENST00000302779.5_Silent_p.S315S|PXK_ENST00000356151.2_Silent_p.S332S|PXK_ENST00000383716.3_Silent_p.S299S|PXK_ENST00000383715.4_Silent_p.S315S|PXK_ENST00000484288.1_Silent_p.S332S			Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	332	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		CATTGGAAAGTGTGGATGTCC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													196	176	182			NA	NA	3		NA											NA				58383343		2203	4300	6503	SO:0001819	synonymous_variant			AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297	54899	54899			23326	protein-coding gene	gene with protein product		611450			NA		Standard	NM_017771	XM_005265255	NA	Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000463280.1:c.897T>C	3.37:g.58383343T>C		NA	Q3BCH4|Q3BCH5|Q3BCH6|Q3BDW1|Q45L83|Q59EX3|Q6PK17|Q6ZN39|Q96CA3|Q96R07|Q9NXB8	37		.	.	.	.	.	.	.	.	.	.	T	10.45	1.352609	0.24512	.	.	ENSG00000168297	ENST00000479134	.	.	.	5.52	-2.33	0.06724	.	.	.	.	.	T	0.52549	0.1741	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50285	-0.8846	4	.	.	.	-15.6095	8.5718	0.33574	0.0:0.3656:0.104:0.5303	.	.	.	.	A	87	.	.	V	+	2	0	PXK	58358383	0.883000	0.30277	0.998000	0.56505	0.971000	0.66376	-0.103000	0.10940	-0.030000	0.13804	0.460000	0.39030	GTG	PXK-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000353500.1		+	ENST00000463280.1	Silent	SNP	3 : 58383343 - 58383343 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	774	168
TAS2R3	50831	broad.mit.edu	37	7	141464292	141464292	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141464292G>A	ENST00000247879.2	+	1	396	c.334G>A	c.(334-336)Gcc>Acc	p.A112T	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	112					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					CCTGAAAATCGCCAGTTTCTC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													257	235	242			NA	NA	7		NA											NA				141464292		2203	4300	6503	SO:0001583	missense			AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362	50831	50831		Taste receptors / Type 2, GPCR / Unclassified : Taste receptors	14910	protein-coding gene	gene with protein product		604868			NA		Standard		NM_016943	NA	Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.334G>A	7.37:g.141464292G>A	ENSP00000247879:p.Ala112Thr	NA	A4D1U2|Q645W2|Q75MV6	37	CCDS5867.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.623043	0.66901	.	.	ENSG00000127362	ENST00000247879	T	0.36520	1.25	6.04	3.24	0.37175	.	0.226757	0.36167	N	0.002748	T	0.55417	0.1919	M	0.83312	2.635	0.25831	N	0.984168	D	0.89917	1.0	D	0.97110	1.0	T	0.51403	-0.8710	10	0.87932	D	0	.	3.2114	0.06684	0.1503:0.1377:0.5698:0.1422	.	112	Q9NYW6	TA2R3_HUMAN	T	112	ENSP00000247879:A112T	ENSP00000247879:A112T	A	+	1	0	TAS2R3	141110761	0.973000	0.33851	0.427000	0.26684	0.740000	0.42216	1.678000	0.37586	0.422000	0.26005	0.563000	0.77884	GCC	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349288.1		+	ENST00000247879.2	Missense_Mutation	SNP	7 : 141464292 - 141464292 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1248	90
NARG2	0	broad.mit.edu	37	15	60741867	60741867	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:60741867T>G	ENST00000261520.4	-	10	1533	c.1299A>C	c.(1297-1299)acA>acC	p.T433T	NARG2_ENST00000439632.1_Silent_p.T296T	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN		433						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						CTTTGGGGGCTGTAGGAGCAT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	133	141			NA	NA	15		NA											NA				60741867		2203	4300	6503	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000261520.4:c.1299A>C	15.37:g.60741867T>G		NA	B2RU08|Q05CT1|Q3B7W6|Q63HP4|Q658Q0|Q68CN8|Q6IPW7|Q6UX23|Q71H65|Q96CY5|Q9HAA2	37	CCDS10176.1																																																																																			NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256136.1		-	ENST00000261520.4	Silent	SNP	15 : 60741867 - 60741867 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	777	165
PRPF3	9129	broad.mit.edu	37	1	150298269	150298269	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150298269C>T	ENST00000324862.6	+	3	371	c.206C>T	c.(205-207)gCt>gTt	p.A69V	PRPF3_ENST00000414970.2_Missense_Mutation_p.A69V|PRPF3_ENST00000543398.1_5'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	69	PWI.				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CTGTTTGAGGCTGTGGAGGAA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(168;1070 2670 5178 20729)							NA				0													176	165	168			NA	NA	1		NA											NA				150298269		2203	4300	6503	SO:0001583	missense			AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360	9129	9129			17348	protein-coding gene	gene with protein product		607301	retinitis pigmentosa 18 (autosomal dominant), PRP3 pre-mRNA processing factor 3 homolog (yeast), PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)	RP18	NA		Standard	NM_004698	NM_004698	NA	Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.206C>T	1.37:g.150298269C>T	ENSP00000315379:p.Ala69Val	NA	O43446|Q5VT54	37	CCDS951.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.243685	0.22796	.	.	ENSG00000117360	ENST00000324862;ENST00000414970	T;T	0.39592	1.07;1.07	5.57	4.65	0.58169	Splicing factor PWI (4);	0.047154	0.85682	D	0.000000	T	0.13030	0.0316	N	0.16478	0.41	0.80722	D	1	B;B;B	0.25772	0.043;0.134;0.134	B;B;B	0.20577	0.022;0.03;0.03	T	0.05084	-1.0907	10	0.14656	T	0.56	-8.71	14.2142	0.65783	0.0:0.9282:0.0:0.0718	.	69;69;69	E7EVD1;B2R791;O43395	.;.;PRPF3_HUMAN	V	69	ENSP00000315379:A69V;ENSP00000387844:A69V	ENSP00000315379:A69V	A	+	2	0	PRPF3	148564893	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.758000	0.68776	2.785000	0.95823	0.655000	0.94253	GCT	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000035836.1		+	ENST00000324862.6	Missense_Mutation	SNP	1 : 150298269 - 150298269 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	961	157
PDZD2	23037	broad.mit.edu	37	5	32087337	32087337	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32087337G>A	ENST00000438447.1	+	20	4171	c.3783G>A	c.(3781-3783)cgG>cgA	p.R1261R	PDZD2_ENST00000282493.3_Silent_p.R1261R			O15018	PDZD2_HUMAN	PDZ domain containing 2	1261					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AAGTCAGTCGGCCAGAGAATC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	71	68			NA	NA	5		NA											NA				32087337		2203	4300	6503	SO:0001819	synonymous_variant			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401	23037	23037			18486	protein-coding gene	gene with protein product		610697	PDZ domain containing 3	PDZK3	NA	9205841	Standard		XM_005248271	NA	Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.3783G>A	5.37:g.32087337G>A		NA	Q9BXD4	37	CCDS34137.1																																																																																			PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366608.1		+	ENST00000438447.1	Silent	SNP	5 : 32087337 - 32087337 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	692	104
BCHE	590	broad.mit.edu	37	3	165547486	165547486	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:165547486A>C	ENST00000264381.3	-	2	1502	c.1336T>G	c.(1336-1338)Ttc>Gtc	p.F446V	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	446			F -> S (in BChE deficiency).		choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	AAATAGTAGAAAAAGGCATTA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	104	102			NA	NA	3		NA											NA				165547486		2203	4300	6503	SO:0001583	missense			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	590	590	3.1.1.8		983	protein-coding gene	gene with protein product		177400	cholinesterase 1, cholinesterase (serum) 2	CHE1, CHE2	NA	1769657, 2318303	Standard		NM_000055	NA	Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1336T>G	3.37:g.165547486A>C	ENSP00000264381:p.Phe446Val	NA	A8K7P8	37	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	A	8.862	0.947231	0.18356	.	.	ENSG00000114200	ENST00000264381	T	0.67171	-0.25	5.52	5.52	0.82312	Carboxylesterase, type B (1);	0.082823	0.64402	D	0.000001	T	0.50803	0.1637	N	0.13043	0.29	0.80722	D	1	B	0.14438	0.01	B	0.22601	0.04	T	0.45425	-0.9262	10	0.25106	T	0.35	.	14.8209	0.70070	1.0:0.0:0.0:0.0	.	446	P06276	CHLE_HUMAN	V	446	ENSP00000264381:F446V	ENSP00000264381:F446V	F	-	1	0	BCHE	167030180	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.997000	0.49457	2.105000	0.64084	0.482000	0.46254	TTC	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350254.1		-	ENST00000264381.3	Missense_Mutation	SNP	3 : 165547486 - 165547486 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	692	101
TLE1	7088	broad.mit.edu	37	9	84228383	84228383	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:84228383G>A	ENST00000376499.3	-	12	2036	c.972C>T	c.(970-972)agC>agT	p.S324S	TLE1_ENST00000376484.1_5'UTR|TLE1_ENST00000464999.1_5'UTR|TLE1_ENST00000376472.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	324	Pro/Ser-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						TTGGCATGTCGCTCCGAGGCG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)							NA				0													123	125	124			NA	NA	9		NA											NA				84228383		2203	4300	6503	SO:0001819	synonymous_variant				CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781	7088	7088		WD repeat domain containing	11837	protein-coding gene	gene with protein product	enhancer of split groucho 1	600189	transducin-like enhancer of split 1, homolog of Drosophila E(sp1)		NA	8365415, 8808280	Standard	NM_005077	NM_005077	NA	Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.972C>T	9.37:g.84228383G>A		NA	A8K495|Q5T3G4|Q969V9	37	CCDS6661.1																																																																																			TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055407.1		-	ENST00000376499.3	Silent	SNP	9 : 84228383 - 84228383 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	654	111
APBB3	10307	broad.mit.edu	37	5	139942032	139942032	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139942032G>A	ENST00000511201.2	-	5	403	c.404C>T	c.(403-405)gCa>gTa	p.A135V	APBB3_ENST00000357560.4_Missense_Mutation_p.A135V|APBB3_ENST00000412920.3_Missense_Mutation_p.A135V|APBB3_ENST00000508496.2_5'UTR|APBB3_ENST00000354402.5_Missense_Mutation_p.A135V|APBB3_ENST00000507279.1_5'UTR|APBB3_ENST00000358580.5_Missense_Mutation_p.A135V|APBB3_ENST00000356738.2_Missense_Mutation_p.A135V			O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	135	PID 1.					actin cytoskeleton|cytoplasm				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCCCGGTGCCAGGTCCTC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	139	137			NA	NA	5		NA											NA				139942032		2203	4300	6503	SO:0001583	missense			AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108	10307	10307			20708	protein-coding gene	gene with protein product		602711			NA	9407065	Standard	NM_006051	NM_133172	NA	Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000511201.2:c.404C>T	5.37:g.139942032G>A	ENSP00000424317:p.Ala135Val	NA	B3KQN9|Q08AG4|Q9NYX6|Q9NYX7|Q9NYX8	37		.	.	.	.	.	.	.	.	.	.	G	16.21	3.058791	0.55325	.	.	ENSG00000113108	ENST00000358580;ENST00000356738;ENST00000354402;ENST00000357560;ENST00000412920;ENST00000511201	T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01	5.12	2.14	0.27477	.	0.254754	0.39985	N	0.001220	T	0.20170	0.0485	L	0.61218	1.895	0.35821	D	0.824607	B;B	0.15141	0.001;0.012	B;B	0.09377	0.001;0.004	T	0.13872	-1.0493	9	.	.	.	-0.5437	10.3978	0.44211	0.2033:0.0:0.7967:0.0	.	135;135	O95704-2;O95704-3	.;.	V	135	ENSP00000351389:A135V;ENSP00000349177:A135V;ENSP00000346378:A135V;ENSP00000350171:A135V;ENSP00000402591:A135V;ENSP00000424317:A135V	.	A	-	2	0	APBB3	139922216	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	4.725000	0.61979	0.113000	0.18004	-0.142000	0.14014	GCA	APBB3-012	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000373246.2		-	ENST00000511201.2	Missense_Mutation	SNP	5 : 139942032 - 139942032 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1346	215
AKR1B1	231	broad.mit.edu	37	7	134133752	134133752	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134133752G>T	ENST00000285930.4	-	5	628	c.549C>A	c.(547-549)aaC>aaA	p.N183K		NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	183					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	TGTTTACCTGGTTAACTGCAG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													208	190	196			NA	NA	7		NA											NA				134133752		2203	4300	6503	SO:0001583	missense			J04795	CCDS5831.1	7q35	2010-04-08			ENSG00000085662	ENSG00000085662	231	231	1.1.1.21	Aldo-keto reductases	381	protein-coding gene	gene with protein product		103880		ALDR1	NA	1901827	Standard	NM_001628	NM_001628	NA	Approved	AR	uc003vrp.1	P15121	OTTHUMG00000155322	ENST00000285930.4:c.549C>A	7.37:g.134133752G>T	ENSP00000285930:p.Asn183Lys	NA	B2R8N3|Q5U031|Q6FGA4|Q6ICP2|Q9BS21|Q9UCI9	37	CCDS5831.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869956	0.72065	.	.	ENSG00000085662	ENST00000285930	T	0.26810	1.71	5.23	5.23	0.72850	NADP-dependent oxidoreductase domain (3);	0.133468	0.64402	D	0.000003	T	0.66761	0.2822	H	0.98646	4.29	0.53005	D	0.999965	D	0.89917	1.0	D	0.76575	0.988	T	0.79364	-0.1834	10	0.87932	D	0	.	13.5061	0.61485	0.0775:0.0:0.9225:0.0	.	183	P15121	ALDR_HUMAN	K	183	ENSP00000285930:N183K	ENSP00000285930:N183K	N	-	3	2	AKR1B1	133784292	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	0.956000	0.29202	2.608000	0.88229	0.561000	0.74099	AAC	AKR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339448.2		-	ENST00000285930.4	Missense_Mutation	SNP	7 : 134133752 - 134133752 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	640	136
NOP58	51602	broad.mit.edu	37	2	203149180	203149180	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:203149180C>T	ENST00000264279.5	+	5	636	c.410C>T	c.(409-411)gCt>gTt	p.A137V	NOP58_ENST00000467734.1_3'UTR	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	137					cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						GAAATGGCAGCTATGTGTCTT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	118	121			NA	NA	2		NA											NA				203149180		2203	4300	6503	SO:0001583	missense				CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044	51602	51602			29926	protein-coding gene	gene with protein product			NOP58 ribonucleoprotein homolog (yeast)		NA	10606270, 10925205	Standard	NM_015934	NM_015934	NA	Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.410C>T	2.37:g.203149180C>T	ENSP00000264279:p.Ala137Val	NA	Q53SA4|Q6PK08|Q9P036|Q9UFN3	37	CCDS2353.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710497	0.89018	.	.	ENSG00000055044	ENST00000264279	T	0.61392	0.11	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.70954	0.3283	M	0.76328	2.33	0.80722	D	1	D;P	0.54601	0.967;0.648	P;B	0.54346	0.749;0.36	T	0.70189	-0.4940	10	0.35671	T	0.21	-3.5345	19.2052	0.93728	0.0:1.0:0.0:0.0	.	137;137	B4DUY3;Q9Y2X3	.;NOP58_HUMAN	V	137	ENSP00000264279:A137V	ENSP00000264279:A137V	A	+	2	0	NOP58	202857425	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.772000	0.85439	2.591000	0.87537	0.655000	0.94253	GCT	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256313.2		+	ENST00000264279.5	Missense_Mutation	SNP	2 : 203149180 - 203149180 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	508	12
BBS2	583	broad.mit.edu	37	16	56548368	56548368	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56548368T>A	ENST00000245157.5	-	2	762	c.342A>T	c.(340-342)agA>agT	p.R114S	BBS2_ENST00000568104.1_Missense_Mutation_p.R114S	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	114					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TACTTGCCTCTCTGTAGAACA	0.353		NA							Bardet-Biedl syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	67	68			NA	NA	16		NA											NA				56548368		2198	4300	6498	SO:0001583	missense	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124	583	583			967	protein-coding gene	gene with protein product		606151		BBS	NA	11285252	Standard	NM_031885	NM_031885	NA	Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.342A>T	16.37:g.56548368T>A	ENSP00000245157:p.Arg114Ser	NA	Q96CM0|Q96SN9	37	CCDS32451.1	.	.	.	.	.	.	.	.	.	.	T	15.63	2.891511	0.52014	.	.	ENSG00000125124	ENST00000245157	D	0.83075	-1.68	5.4	5.4	0.78164	WD40 repeat-like-containing domain (1);	0.124466	0.64402	D	0.000003	T	0.79879	0.4522	L	0.61218	1.895	0.48830	D	0.999713	B;B	0.34399	0.452;0.452	B;B	0.33620	0.167;0.167	T	0.81013	-0.1125	10	0.87932	D	0	-14.9158	9.8741	0.41194	0.0:0.0764:0.0:0.9236	.	114;114	A8K0N9;Q9BXC9	.;BBS2_HUMAN	S	114	ENSP00000245157:R114S	ENSP00000245157:R114S	R	-	3	2	BBS2	55105869	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.690000	0.47001	2.050000	0.60909	0.482000	0.46254	AGA	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434386.2		-	ENST00000245157.5	Missense_Mutation	SNP	16 : 56548368 - 56548368 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	335	64
NRXN1	9378	broad.mit.edu	37	2	51255063	51255063	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:51255063C>T	ENST00000404971.1	-	2	1688	c.349G>A	c.(349-351)Gtg>Atg	p.V117M	NRXN1_ENST00000406316.2_Missense_Mutation_p.V117M|NRXN1_ENST00000402717.3_Missense_Mutation_p.V117M|NRXN1_ENST00000405472.3_Missense_Mutation_p.V117M|NRXN1_ENST00000405581.1_Missense_Mutation_p.V117M|NRXN1_ENST00000406859.3_Missense_Mutation_p.V117M|NRXN1_ENST00000401669.2_Missense_Mutation_p.V117M	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	117	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGGATGCGCACGCTGTGCCAG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	30	28			NA	NA	2		NA											NA				51255063		2089	4207	6296	SO:0001583	missense			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915	9378	9378			8008	protein-coding gene	gene with protein product		600565			NA		Standard		NM_001135659	NA	Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000404971.1:c.349G>A	2.37:g.51255063C>T	ENSP00000385142:p.Val117Met	NA	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	37	CCDS46282.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527919	0.85706	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859;ENST00000405581	D;D;D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17;-2.17;-2.17	4.97	4.97	0.65823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.24547	U	0.037600	D	0.94823	0.8328	M	0.90483	3.12	0.49915	D	0.99983	D;D;D	0.89917	0.997;1.0;0.969	D;D;B	0.91635	0.964;0.999;0.379	D	0.95756	0.8796	10	0.72032	D	0.01	.	18.2347	0.89946	0.0:1.0:0.0:0.0	.	117;117;117	Q9ULB1-3;F8WB18;Q9ULB1	.;.;NRX1A_HUMAN	M	117	ENSP00000385142:V117M;ENSP00000384311:V117M;ENSP00000434015:V117M;ENSP00000385017:V117M;ENSP00000385434:V117M;ENSP00000385681:V117M;ENSP00000385310:V117M	ENSP00000385017:V117M	V	-	1	0	NRXN1	51108567	1.000000	0.71417	0.987000	0.45799	0.861000	0.49209	4.863000	0.62983	2.293000	0.77203	0.563000	0.77884	GTG	NRXN1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323894.3		-	ENST00000404971.1	Missense_Mutation	SNP	2 : 51255063 - 51255063 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	218	29
RBM19	9904	broad.mit.edu	37	12	114377943	114377943	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:114377943G>A	ENST00000545145.2	-	15	1838	c.1760C>T	c.(1759-1761)aCt>aTt	p.T587I	RBM19_ENST00000261741.5_Missense_Mutation_p.T587I|RBM19_ENST00000392561.3_Missense_Mutation_p.T587I	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	587	RRM 4.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CAGAATCACAGTCTTGCTTCG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	78	77			NA	NA	12		NA											NA				114377943		2203	4300	6503	SO:0001583	missense			AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965	9904	9904		RNA binding motif (RRM) containing	29098	protein-coding gene	gene with protein product					NA	9734811, 11230166	Standard	NM_016196	NM_016196	NA	Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1760C>T	12.37:g.114377943G>A	ENSP00000442053:p.Thr587Ile	NA	Q9BPY6|Q9UFN5	37	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.647010	0.67358	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.06294	3.32;3.32;3.32	4.3	4.3	0.51218	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.254274	0.37761	N	0.001945	T	0.29652	0.0740	M	0.93328	3.405	0.49915	D	0.999838	P	0.51240	0.943	P	0.55999	0.789	T	0.48007	-0.9072	10	0.62326	D	0.03	-12.7428	16.7648	0.85521	0.0:0.0:1.0:0.0	.	587	Q9Y4C8	RBM19_HUMAN	I	587	ENSP00000442053:T587I;ENSP00000376344:T587I;ENSP00000261741:T587I	ENSP00000261741:T587I	T	-	2	0	RBM19	112862326	1.000000	0.71417	0.988000	0.46212	0.984000	0.73092	4.823000	0.62694	1.964000	0.57103	0.561000	0.74099	ACT	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405251.1		-	ENST00000545145.2	Missense_Mutation	SNP	12 : 114377943 - 114377943 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	795	73
ANKK1	255239	broad.mit.edu	37	11	113267969	113267969	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113267969C>A	ENST00000303941.3	+	6	956	c.862C>A	c.(862-864)Ctg>Atg	p.L288M		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	288	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.L288L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GACAGACATACTGCTGTCACT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	endometrium(1)											61	64	63			NA	NA	11		NA											NA				113267969		2136	4237	6373	SO:0001583	missense			AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209	255239	255239		Ankyrin repeat domain containing	21027	protein-coding gene	gene with protein product		608774			NA	15146457	Standard	NM_178510	NM_178510	NA	Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.862C>A	11.37:g.113267969C>A	ENSP00000306678:p.Leu288Met	NA		37	CCDS44734.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.816348	0.32145	.	.	ENSG00000170209	ENST00000303941	T	0.76448	-1.02	4.8	3.88	0.44766	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.355271	0.19070	N	0.123526	T	0.80874	0.4707	L	0.38838	1.175	0.39011	D	0.959556	D	0.71674	0.998	D	0.66196	0.942	T	0.81226	-0.1029	10	0.46703	T	0.11	-7.9202	12.6573	0.56793	0.0:0.8342:0.1658:0.0	.	288	Q8NFD2	ANKK1_HUMAN	M	288	ENSP00000306678:L288M	ENSP00000306678:L288M	L	+	1	2	ANKK1	112773179	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	1.186000	0.32078	1.218000	0.43458	-0.304000	0.09214	CTG	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395830.1		+	ENST00000303941.3	Missense_Mutation	SNP	11 : 113267969 - 113267969 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	193	46
PERP	64065	broad.mit.edu	37	6	138417631	138417631	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138417631G>A	ENST00000421351.3	-	2	385	c.215C>T	c.(214-216)gCg>gTg	p.A72V		NM_022121.4	NP_071404.2	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	72					apoptosis|cell adhesion	desmosome|Golgi apparatus|integral to membrane|nucleus				breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		TCTACCCCACGCTGCAAGAAA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	45	45			NA	NA	6		NA											NA				138417631		2203	4300	6503	SO:0001630	splice_region_variant			AF317550	CCDS5188.1	6q24	2014-04-29			ENSG00000112378	ENSG00000112378	64065	64065			17637	protein-coding gene	gene with protein product	keratinocyte associated protein 1	609301			NA	11062687	Standard	NM_022121	NM_022121	NA	Approved	PIGPC1, dJ496H19.1, KCP1, THW, KRTCAP1	uc003qht.2	Q96FX8	OTTHUMG00000015668	ENST00000421351.3:c.215-1C>T	6.37:g.138417631G>A		NA	E1P590|Q8IWS3|Q8N1J6|Q8NC16|Q9H1C5|Q9H230	37	CCDS5188.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241875	0.58995	.	.	ENSG00000112378	ENST00000421351;ENST00000265603	D	0.89123	-2.47	5.5	5.5	0.81552	.	0.458938	0.23404	N	0.048548	D	0.86694	0.5994	L	0.36672	1.1	0.58432	D	0.999997	D	0.65815	0.995	P	0.56514	0.8	D	0.86284	0.1669	10	0.42905	T	0.14	.	13.6399	0.62243	0.0:0.2003:0.7997:0.0	.	72	Q96FX8	PERP_HUMAN	V	72;54	ENSP00000397157:A72V	ENSP00000265603:A54V	A	-	2	0	PERP	138459324	1.000000	0.71417	0.942000	0.38095	0.026000	0.11368	3.975000	0.56859	2.758000	0.94735	0.561000	0.74099	GCG	PERP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042423.2	Missense_Mutation	-	ENST00000421351.3	Splice_Site	SNP	6 : 138417631 - 138417631 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	105	25
CCDC88C	440193	broad.mit.edu	37	14	91770280	91770280	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91770280C>T	ENST00000389857.6	-	20	3486	c.3400G>A	c.(3400-3402)Gcg>Acg	p.A1134T		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1134					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GTGTACTGCGCGGTGAGCGCT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	71	69			NA	NA	14		NA											NA				91770280		2144	4243	6387	SO:0001583	missense				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133	440193	440193			19967	protein-coding gene	gene with protein product	Dvl-associating protein with a high frequency of leucine residues, spinocerebellar ataxia 40	611204	KIAA1509	KIAA1509	NA	17185515, 25062847	Standard	XM_029353	NM_001080414	NA	Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.3400G>A	14.37:g.91770280C>T	ENSP00000374507:p.Ala1134Thr	NA	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	37	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307042	0.60305	.	.	ENSG00000015133	ENST00000389857	T	0.17054	2.3	5.52	3.69	0.42338	.	0.000000	0.48286	U	0.000192	T	0.22513	0.0543	L	0.46741	1.465	0.80722	D	1	D	0.61080	0.989	P	0.53518	0.728	T	0.01276	-1.1398	10	0.33141	T	0.24	-12.7778	8.6863	0.34240	0.2697:0.6613:0.0:0.069	.	1134	Q9P219	DAPLE_HUMAN	T	1134	ENSP00000374507:A1134T	ENSP00000374507:A1134T	A	-	1	0	CCDC88C	90840033	0.964000	0.33143	0.018000	0.16275	0.073000	0.16967	2.267000	0.43329	0.795000	0.33922	-0.258000	0.10820	GCG	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411650.1		-	ENST00000389857.6	Missense_Mutation	SNP	14 : 91770280 - 91770280 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	503	81
ZNF567	163081	broad.mit.edu	37	19	37211001	37211001	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37211001C>T	ENST00000585696.1	+	3	2512	c.1282C>T	c.(1282-1284)Cgc>Tgc	p.R428C	ZNF567_ENST00000392163.2_Missense_Mutation_p.R428C|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000360729.4_Missense_Mutation_p.R428C|ZNF567_ENST00000588311.1_Missense_Mutation_p.R428C|ZNF567_ENST00000536254.2_Missense_Mutation_p.R459C			Q8N184	ZN567_HUMAN	zinc finger protein 567	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAAGTCCTTCCGCCAGAAGAC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	79	78			NA	NA	19		NA											NA				37211001		2203	4300	6503	SO:0001583	missense			AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042	163081	163081		Zinc fingers, C2H2-type, -	28696	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152603	XM_006723064	NA	Approved	MGC45586	uc002oep.4	Q8N184		ENST00000585696.1:c.1282C>T	19.37:g.37211001C>T	ENSP00000467379:p.Arg428Cys	NA	B3KX49|Q6N044	37	CCDS12495.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.685383	0.29872	.	.	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498;ENST00000392163	T;T;T	0.36699	1.24;1.24;1.24	4.88	2.67	0.31697	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.152893	0.31177	N	0.008105	T	0.43634	0.1256	M	0.63169	1.94	0.39029	D	0.959897	D;D	0.76494	0.999;0.999	P;P	0.56700	0.642;0.804	T	0.35674	-0.9779	10	0.28530	T	0.3	.	7.109	0.25380	0.0:0.5528:0.3555:0.0917	.	459;428	Q8N184;F8WEL6	ZN567_HUMAN;.	C	459;403;428;458;428	ENSP00000441838:R459C;ENSP00000353957:R428C;ENSP00000376003:R428C	ENSP00000353957:R428C	R	+	1	0	ZNF567	41902841	0.000000	0.05858	0.997000	0.53966	0.992000	0.81027	-0.376000	0.07465	0.725000	0.32318	0.561000	0.74099	CGC	ZNF567-004	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453553.1		+	ENST00000585696.1	Missense_Mutation	SNP	19 : 37211001 - 37211001 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	431	79
CNTRL	11064	broad.mit.edu	37	9	123898163	123898163	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123898163G>T	ENST00000373855.1	+	15	2365	c.2105G>T	c.(2104-2106)aGt>aTt	p.S702I	CNTRL_ENST00000238341.5_Missense_Mutation_p.S702I|CNTRL_ENST00000373850.1_Missense_Mutation_p.S150I|CNTRL_ENST00000373847.1_Missense_Mutation_p.S150I			Q7Z7A1	CNTRL_HUMAN	centriolin	702					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GGAGATCTCAGTGCCTATGAA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	74	77			NA	NA	9		NA											NA				123898163		2203	4300	6503	SO:0001583	missense			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397	11064	11064			1858	protein-coding gene	gene with protein product		605496	centrosomal protein 1, centrosomal protein 110kDa	CEP1, CEP110	NA	10688839	Standard	NM_007018	XM_005251679	NA	Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.2105G>T	9.37:g.123898163G>T	ENSP00000362962:p.Ser702Ile	NA	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	37	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885778	0.72410	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000373851;ENST00000373850;ENST00000373847	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.78	3.94	0.45596	.	.	.	.	.	T	0.50667	0.1629	L	0.34521	1.04	0.38654	D	0.951908	P;P;P	0.49783	0.883;0.928;0.883	P;P;P	0.51135	0.459;0.66;0.459	T	0.55854	-0.8075	9	0.72032	D	0.01	.	11.0477	0.47867	0.0695:0.1291:0.8014:0.0	.	702;702;702	B2RP65;F5GZN0;Q7Z7A1	.;.;CNTRL_HUMAN	I	702;702;702;184;150;150	ENSP00000362962:S702I;ENSP00000238341:S702I;ENSP00000362956:S150I;ENSP00000362953:S150I	ENSP00000238341:S702I	S	+	2	0	CNTRL	122937984	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.420000	0.59841	0.785000	0.33685	0.655000	0.94253	AGT	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250216.1		+	ENST00000373855.1	Missense_Mutation	SNP	9 : 123898163 - 123898163 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	314	50
XRCC1	7515	broad.mit.edu	37	19	44056975	44056975	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44056975G>A	ENST00000262887.5	-	8	1344	c.797C>T	c.(796-798)tCg>tTg	p.S266L	XRCC1_ENST00000543982.1_Missense_Mutation_p.S235L			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	266					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				AACAGATGGCGACAGCTGGGC	0.562		NA						Other BER factors						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	148	147			NA	NA	19		NA											NA				44056975		2203	4300	6503	SO:0001583	missense			M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050	7515	7515			12828	protein-coding gene	gene with protein product		194360		RCC	NA	2247054	Standard	NM_006297	NM_006297	NA	Approved		uc002owt.2	P18887		ENST00000262887.5:c.797C>T	19.37:g.44056975G>A	ENSP00000262887:p.Ser266Leu	NA	Q6IBS4|Q9HCB1	37	CCDS12624.1	.	.	.	.	.	.	.	.	.	.	G	2.030	-0.422592	0.04734	.	.	ENSG00000073050	ENST00000458471;ENST00000262887;ENST00000543982;ENST00000538738	T;T	0.03124	4.07;4.04	4.35	-3.95	0.04118	.	2.105260	0.02044	N	0.049529	T	0.02767	0.0083	N	0.21448	0.665	0.09310	N	1	B;B	0.13145	0.007;0.001	B;B	0.06405	0.002;0.001	T	0.43972	-0.9358	10	0.27082	T	0.32	2.3862	4.5857	0.12280	0.4721:0.0:0.377:0.1509	.	235;266	F5H8D7;P18887	.;XRCC1_HUMAN	L	280;266;235;266	ENSP00000262887:S266L;ENSP00000443671:S235L	ENSP00000262887:S266L	S	-	2	0	XRCC1	48748815	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.192000	0.17096	-0.318000	0.08665	-1.326000	0.01283	TCG	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463194.1		-	ENST00000262887.5	Missense_Mutation	SNP	19 : 44056975 - 44056975 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	325	64
TAS2R41	259287	broad.mit.edu	37	7	143175206	143175206	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143175206G>A	ENST00000408916.1	+	1	241	c.241G>A	c.(241-243)Ggc>Agc	p.G81S	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	81					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TGGGGGTCTCGGCCGACAGTT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	105	105			NA	NA	7		NA											NA				143175206		2003	4165	6168	SO:0001583	missense			AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855	259287	259287		Taste receptors / Type 2, GPCR / Unclassified : Taste receptors	18883	protein-coding gene	gene with protein product		613965			NA	12379855	Standard		NM_176883	NA	Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.241G>A	7.37:g.143175206G>A	ENSP00000386201:p.Gly81Ser	NA	P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	37	CCDS43663.1	.	.	.	.	.	.	.	.	.	.	G	3.492	-0.103716	0.06967	.	.	ENSG00000221855	ENST00000408916	T	0.39406	1.08	5.76	-0.794	0.10918	.	1.412690	0.04793	N	0.432118	T	0.22513	0.0543	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.16958	-1.0385	10	0.08381	T	0.77	.	6.6835	0.23132	0.1486:0.0:0.5337:0.3176	.	81	P59536	T2R41_HUMAN	S	81	ENSP00000386201:G81S	ENSP00000386201:G81S	G	+	1	0	TAS2R41	142885328	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.585000	0.05794	-0.138000	0.11434	-2.610000	0.00160	GGC	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342149.1		+	ENST00000408916.1	Missense_Mutation	SNP	7 : 143175206 - 143175206 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	469	75
KIAA0100	9703	broad.mit.edu	37	17	26943182	26943182	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26943182G>A	ENST00000528896.2	-	37	6396	c.6322C>T	c.(6322-6324)Cga>Tga	p.R2108*	SPAG5-AS1_ENST00000414744.1_RNA|SPAG5-AS1_ENST00000554154.1_RNA|KIAA0100_ENST00000389003.3_Nonsense_Mutation_p.R1965*|KIAA0100_ENST00000544884.1_Nonsense_Mutation_p.R1965*|SPAG5-AS1_ENST00000424210.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2108						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					ATGGCAGCTCGCTCTTTCATC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	68	73			NA	NA	17		NA											NA				26943182		2203	4300	6503	SO:0001587	stop_gained			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202	9703	9703			28960	protein-coding gene	gene with protein product	cancer/testis antigen 101, breast cancer overexpressed gene 1	610664			NA	16289875	Standard	NM_014680	NM_014680	NA	Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.6322C>T	17.37:g.26943182G>A	ENSP00000436773:p.Arg2108*	NA	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	37	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	47	13.572001	0.99750	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	.	.	.	5.63	4.64	0.57946	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4692	0.61273	0.0:0.0:0.715:0.285	.	.	.	.	X	2108;2078;2108;1965	.	ENSP00000005905:R2108X	R	-	1	2	KIAA0100	23967309	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.200000	0.51051	1.333000	0.45449	0.655000	0.94253	CGA	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390571.3		-	ENST00000528896.2	Nonsense_Mutation	SNP	17 : 26943182 - 26943182 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	275	49
LINGO4	339398	broad.mit.edu	37	1	151773422	151773422	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151773422G>A	ENST00000368820.3	-	2	2696	c.1759C>T	c.(1759-1761)Cgg>Tgg	p.R587W		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	587						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCAGTGACCCGGTTACCCCCA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	60	59			NA	NA	1		NA											NA				151773422		2203	4300	6503	SO:0001583	missense				CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171	339398	339398		Immunoglobulin superfamily / I-set domain containing	31814	protein-coding gene	gene with protein product		609794	leucine rich repeat neuronal 6D	LRRN6D	NA		Standard	XM_291387	NM_001004432	NA	Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.1759C>T	1.37:g.151773422G>A	ENSP00000357810:p.Arg587Trp	NA		37	CCDS30855.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.186448	0.57909	.	.	ENSG00000213171	ENST00000368820	T	0.60797	0.16	5.32	3.37	0.38596	.	0.000000	0.43260	D	0.000596	T	0.56863	0.2014	L	0.46157	1.445	0.40508	D	0.980719	D	0.89917	1.0	D	0.69654	0.965	T	0.62534	-0.6834	10	0.87932	D	0	.	11.2733	0.49153	0.0:0.0:0.5399:0.4601	.	587	Q6UY18	LIGO4_HUMAN	W	587	ENSP00000357810:R587W	ENSP00000357810:R587W	R	-	1	2	LINGO4	150040046	1.000000	0.71417	0.985000	0.45067	0.980000	0.70556	1.391000	0.34475	0.744000	0.32741	0.655000	0.94253	CGG	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000036639.1		-	ENST00000368820.3	Missense_Mutation	SNP	1 : 151773422 - 151773422 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	580	154
ACTA1	58	broad.mit.edu	37	1	229567884	229567884	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229567884G>A	ENST00000366684.3	-	5	767	c.665C>T	c.(664-666)gCc>gTc	p.A222V	ACTA1_ENST00000366683.2_Missense_Mutation_p.A134V	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	222					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	GAAGTCCAGGGCCACGTAGCA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	36	38			NA	NA	1		NA											NA				229567884		2203	4299	6502	SO:0001583	missense			J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632	58	58			129	protein-coding gene	gene with protein product	nemaline myopathy type 3	102610		ACTA	NA	10072583, 6865942	Standard	NM_001100	NM_001100	NA	Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.665C>T	1.37:g.229567884G>A	ENSP00000355645:p.Ala222Val	NA	P02568|P99020|Q5T8M9	37	CCDS1578.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.753071	0.69648	.	.	ENSG00000143632	ENST00000366684;ENST00000308794;ENST00000366683;ENST00000366682	D;D	0.94613	-3.47;-3.47	4.28	4.28	0.50868	.	0.065554	0.64402	D	0.000018	D	0.97629	0.9223	M	0.90650	3.135	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.98786	1.0734	10	0.87932	D	0	.	16.8952	0.86098	0.0:0.0:1.0:0.0	.	222	P68133	ACTS_HUMAN	V	222;132;134;187	ENSP00000355645:A222V;ENSP00000355644:A134V	ENSP00000312351:A132V	A	-	2	0	ACTA1	227634507	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.477000	0.97925	2.201000	0.70794	0.563000	0.77884	GCC	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092781.1		-	ENST00000366684.3	Missense_Mutation	SNP	1 : 229567884 - 229567884 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	258	44
PRDM13	59336	broad.mit.edu	37	6	100062174	100062174	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:100062174G>T	ENST00000369215.4	+	4	1968	c.1663G>T	c.(1663-1665)Ggc>Tgc	p.G555C		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	555	Poly-Gly.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		ggcggcgggaggcaccggggg	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													7	12	10			NA	NA	6		NA											NA				100062174		1962	4076	6038	SO:0001583	missense			AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238	59336	59336			13998	protein-coding gene	gene with protein product					NA		Standard		NM_021620	NA	Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.1663G>T	6.37:g.100062174G>T	ENSP00000358217:p.Gly555Cys	NA	Q5TGC1|Q5TGC2	37	CCDS43487.1	.	.	.	.	.	.	.	.	.	.	G	9.719	1.159080	0.21454	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	T;T	0.08546	3.08;3.08	3.73	0.86	0.19042	.	0.843515	0.09643	N	0.774793	T	0.01905	0.0060	L	0.27053	0.805	0.09310	N	1	P	0.50369	0.934	B	0.40901	0.343	T	0.42310	-0.9459	10	0.72032	D	0.01	-4.5986	4.1491	0.10230	0.1901:0.0:0.4939:0.316	.	555	Q9H4Q3	PRD13_HUMAN	C	555;565	ENSP00000358217:G555C;ENSP00000358216:G565C	ENSP00000358216:G565C	G	+	1	0	PRDM13	100168895	0.918000	0.31147	0.000000	0.03702	0.229000	0.25112	0.923000	0.28757	0.053000	0.16036	0.561000	0.74099	GGC	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041619.2		+	ENST00000369215.4	Missense_Mutation	SNP	6 : 100062174 - 100062174 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	129	12
JPH4	84502	broad.mit.edu	37	14	24044904	24044904	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24044904C>T	ENST00000397118.3	-	4	2043	c.1141G>A	c.(1141-1143)Gcc>Acc	p.A381T	JPH4_ENST00000356300.4_Missense_Mutation_p.A381T	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	381					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CTGGCAGCGGCGATCTCCTGG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	12	12			NA	NA	14		NA											NA				24044904		2181	4283	6464	SO:0001583	missense			AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051	84502	84502			20156	protein-coding gene	gene with protein product			junctophilin like 1	JPHL1	NA	11347906	Standard	NM_032452	NM_032452	NA	Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1141G>A	14.37:g.24044904C>T	ENSP00000380307:p.Ala381Thr	NA	D3DS53|Q8ND44|Q96DQ0	37	CCDS9603.1	.	.	.	.	.	.	.	.	.	.	.	13.79	2.342303	0.41498	.	.	ENSG00000092051	ENST00000356300;ENST00000397118;ENST00000543864;ENST00000267407	T;T	0.63744	-0.06;-0.06	4.06	4.06	0.47325	.	0.000000	0.29964	U	0.010742	T	0.76723	0.4027	M	0.71581	2.175	0.48696	D	0.999697	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.80122	-0.1514	10	0.87932	D	0	.	13.7735	0.63039	0.0:1.0:0.0:0.0	.	381;381	A8K396;Q96JJ6	.;JPH4_HUMAN	T	381;381;381;382	ENSP00000348648:A381T;ENSP00000380307:A381T	ENSP00000267407:A382T	A	-	1	0	JPH4	23114744	1.000000	0.71417	0.990000	0.47175	0.010000	0.07245	7.156000	0.77453	2.079000	0.62486	0.563000	0.77884	GCC	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413853.1		-	ENST00000397118.3	Missense_Mutation	SNP	14 : 24044904 - 24044904 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	98	17
VWCE	220001	broad.mit.edu	37	11	61042028	61042028	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61042028G>A	ENST00000335613.5	-	12	1910	c.1524C>T	c.(1522-1524)taC>taT	p.Y508Y		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	508	VWFC 3.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CCCCGTCTGCGTACCACCGGC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													197	125	149			NA	NA	11		NA											NA				61042028		2203	4299	6502	SO:0001819	synonymous_variant			AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992	220001	220001			26487	protein-coding gene	gene with protein product		611115			NA	12869306	Standard	NM_152718	NM_152718	NA	Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.1524C>T	11.37:g.61042028G>A		NA	A5PKV0|Q7Z7L6|Q86WK8	37	CCDS8002.1																																																																																			VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398811.1		-	ENST00000335613.5	Silent	SNP	11 : 61042028 - 61042028 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	417	75
ATP10D	57205	broad.mit.edu	37	4	47589067	47589067	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47589067G>A	ENST00000273859.3	+	22	4054	c.3785G>A	c.(3784-3786)aGc>aAc	p.S1262N		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1262					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ATCATTGGTAGCATCTTGTCT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													262	222	235			NA	NA	4		NA											NA				47589067		2203	4300	6503	SO:0001583	missense			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246	57205	57205		ATPases / P-type	13549	protein-coding gene	gene with protein product			ATPase, Class V, type 10D		NA	12532265	Standard	NM_020453	NM_020453	NA	Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.3785G>A	4.37:g.47589067G>A	ENSP00000273859:p.Ser1262Asn	NA	A2RRC8|D6REN2|Q8NC70|Q96SR3	37	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406645	0.62399	.	.	ENSG00000145246	ENST00000273859	T	0.63255	-0.03	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.86843	0.6030	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91347	0.5101	10	0.87932	D	0	-6.3784	17.7053	0.88308	0.0:0.0:1.0:0.0	.	1262	Q9P241	AT10D_HUMAN	N	1262	ENSP00000273859:S1262N	ENSP00000273859:S1262N	S	+	2	0	ATP10D	47283824	1.000000	0.71417	0.984000	0.44739	0.005000	0.04900	9.515000	0.98015	2.665000	0.90641	0.655000	0.94253	AGC	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216900.1		+	ENST00000273859.3	Missense_Mutation	SNP	4 : 47589067 - 47589067 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	574	103
ZNF786	136051	broad.mit.edu	37	7	148768238	148768238	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148768238G>A	ENST00000316286.9	-	3	1640	c.1368C>T	c.(1366-1368)tgC>tgT	p.C456C	ZNF786_ENST00000451334.3_Silent_p.C505C|ZNF786_ENST00000491431.1_Silent_p.C542C			Q8N393	ZN786_HUMAN	zinc finger protein 786	542					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AGCGCTTGTCGCACTTCAGGC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	27	26			NA	NA	7		NA											NA				148768238		2148	4258	6406	SO:0001819	synonymous_variant			AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362	136051	136051		Zinc fingers, C2H2-type, -	21806	protein-coding gene	gene with protein product					NA		Standard	NM_152411	NM_152411	NA	Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000316286.9:c.1368C>T	7.37:g.148768238G>A		NA	A1A568	37																																																																																				ZNF786-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000352752.1		-	ENST00000316286.9	Silent	SNP	7 : 148768238 - 148768238 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	157	25
TTK	7272	broad.mit.edu	37	6	80723075	80723075	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:80723075A>C	ENST00000230510.3	+	9	1557	c.976A>C	c.(976-978)Aat>Cat	p.N326H	TTK_ENST00000509894.1_Missense_Mutation_p.N326H|TTK_ENST00000369798.2_Missense_Mutation_p.N326H			P33981	TTK_HUMAN	TTK protein kinase	326					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.N310H(1)|p.N326H(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TGAATTAAGAAATTTAAAGGT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(2)											74	87	82			NA	NA	6		NA											NA				80723075		2202	4294	6496	SO:0001583	missense				CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742	7272	7272			12401	protein-coding gene	gene with protein product	cancer/testis antigen 96, monopolar spindle 1 kinase	604092			NA	1639825	Standard		NM_003318	NA	Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000230510.3:c.976A>C	6.37:g.80723075A>C	ENSP00000230510:p.Asn326His	NA	B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	37	CCDS55040.1	.	.	.	.	.	.	.	.	.	.	A	12.25	1.880323	0.33162	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.69806	-0.41;-0.41;-0.43	5.63	-2.13	0.07144	.	0.718330	0.15478	N	0.260260	T	0.16342	0.0393	N	0.04508	-0.205	0.22737	N	0.998796	B;B	0.12013	0.005;0.002	B;B	0.09377	0.004;0.004	T	0.25984	-1.0116	10	0.34782	T	0.22	.	5.9981	0.19505	0.3703:0.4243:0.2054:0.0	.	326;326	P33981;A8K8U5	TTK_HUMAN;.	H	326	ENSP00000422936:N326H;ENSP00000230510:N326H;ENSP00000358813:N326H	ENSP00000230510:N326H	N	+	1	0	TTK	80779794	0.310000	0.24527	0.778000	0.31720	0.805000	0.45488	-0.315000	0.08081	-0.229000	0.09854	0.533000	0.62120	AAT	TTK-002	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041317.3		+	ENST00000230510.3	Missense_Mutation	SNP	6 : 80723075 - 80723075 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1000	211
FUT7	2529	broad.mit.edu	37	9	139925490	139925490	+	Missense_Mutation	SNP	C	C	T	rs141846761	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139925490C>T	ENST00000314412.6	-	2	1719	c.701G>A	c.(700-702)cGc>cAc	p.R234H	C9orf139_ENST00000314330.2_Intron	NM_004479.3	NP_004470.1	Q11130	FUT7_HUMAN	fucosyltransferase 7 (alpha (1,3) fucosyltransferase)	234					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1)	8	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		AATGTAGTCGCGGTGCTGAGA	0.637		NA											c	0	0	NA	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0	0.05	EXOME	NA	NA	6e-04	SNP								NA				0									HIS/ARG,	2,4404	4.2+/-10.8	0,2,2201	108	127	121		701,	-2.6	0	9	dbSNP_134	121	16,8584	11.2+/-40.8	0,16,4284	yes	missense,intron	FUT7,C9orf139	NM_004479.3,NM_207511.1	29,	0,18,6485	TT,TC,CC	NA	0.186,0.0454,0.1384	benign,	234/343,	139925490	18,12988	2203	4300	6503	SO:0001583	missense			X78031, AB012668	CCDS7022.1	9q34.3	2013-02-26			ENSG00000180549	ENSG00000180549	2529	2529		Fucosyltransferases	4018	protein-coding gene	gene with protein product		602030			NA	8207002, 8182079	Standard	NM_004479	NM_004479	NA	Approved		uc004ckq.2	Q11130	OTTHUMG00000020964	ENST00000314412.6:c.701G>A	9.37:g.139925490C>T	ENSP00000318142:p.Arg234His	NA	B2R7U7|Q6DK54	37	CCDS7022.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	c	6.822	0.520860	0.13005	4.54E-4	0.00186	ENSG00000180549	ENST00000314412	T	0.27720	1.65	4.68	-2.59	0.06209	.	0.653039	0.15388	U	0.264965	T	0.27663	0.0680	M	0.75150	2.29	0.21802	N	0.999538	B	0.16166	0.016	B	0.18871	0.023	T	0.28744	-1.0034	10	0.42905	T	0.14	-3.4242	6.4767	0.22039	0.0:0.3934:0.3311:0.2755	.	234	Q11130	FUT7_HUMAN	H	234	ENSP00000318142:R234H	ENSP00000318142:R234H	R	-	2	0	FUT7	139045311	0.000000	0.05858	0.017000	0.16124	0.145000	0.21501	-0.730000	0.04915	-0.194000	0.10399	-0.477000	0.04895	CGC	FUT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055220.1		-	ENST00000314412.6	Missense_Mutation	SNP	9 : 139925490 - 139925490 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1495	254
CPSF1	29894	broad.mit.edu	37	8	145623813	145623813	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145623813C>A	ENST00000349769.3	-	19	1867	c.1773G>T	c.(1771-1773)gaG>gaT	p.E591D		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	591					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GCTCCATGATCTCCTGCCCCG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(133;1088 1848 27708 34777 35269)							NA				0													83	89	87			NA	NA	8		NA											NA				145623813		2203	4300	6503	SO:0001583	missense			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894	29894	29894			2324	protein-coding gene	gene with protein product		606027	cleavage and polyadenylation specific factor 1, 160kD subunit		NA	7651824, 7590244	Standard	NM_013291	NM_013291	NA	Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1773G>T	8.37:g.145623813C>A	ENSP00000339353:p.Glu591Asp	NA	Q96AF0	37	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419153	0.83559	.	.	ENSG00000071894	ENST00000349769	T	0.54675	0.56	5.65	3.86	0.44501	.	0.000000	0.85682	D	0.000000	T	0.54398	0.1856	L	0.49350	1.555	0.53005	D	0.999964	P	0.47604	0.898	P	0.53722	0.733	T	0.48115	-0.9063	10	0.30854	T	0.27	-9.2522	7.7805	0.29062	0.0:0.7454:0.0:0.2546	.	591	Q10570	CPSF1_HUMAN	D	591	ENSP00000339353:E591D	ENSP00000339353:E591D	E	-	3	2	CPSF1	145594621	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.540000	0.45727	0.742000	0.32697	0.655000	0.94253	GAG	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382422.2		-	ENST00000349769.3	Missense_Mutation	SNP	8 : 145623813 - 145623813 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	936	89
EFNA1	1942	broad.mit.edu	37	1	155104109	155104109	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155104109C>A	ENST00000368407.3	+	2	905	c.387C>A	c.(385-387)atC>atA	p.I129I	EFNA1_ENST00000469878.1_3'UTR|EFNA1_ENST00000368406.2_Splice_Site_p.I129I	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	ephrin-A1	129					angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading	extracellular region|integral to plasma membrane	ephrin receptor binding			breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACTACTACATCTGTGAGTGCC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	44	46			NA	NA	1		NA											NA				155104109		2203	4300	6503	SO:0001630	splice_region_variant				CCDS1091.1, CCDS1092.1	1q21-q22	2011-03-09			ENSG00000169242	ENSG00000169242	1942	1942		Ephrins	3221	protein-coding gene	gene with protein product		191164		TNFAIP4, EPLG1	NA	2233719, 8660976	Standard	NM_004428	NM_182685	NA	Approved	LERK1, ECKLG	uc001fhh.3	P20827	OTTHUMG00000035312	ENST00000368407.3:c.388+1C>A	1.37:g.155104109C>A		NA	D3DV86|Q5SR60|Q5SR61|Q6I9T9|Q8N578	37	CCDS1091.1																																																																																			EFNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085428.1	Silent	+	ENST00000368407.3	Splice_Site	SNP	1 : 155104109 - 155104109 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	241	62
PRR3	80742	broad.mit.edu	37	6	30530251	30530251	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30530251C>T	ENST00000376560.3	+	4	1005	c.546C>T	c.(544-546)ggC>ggT	p.G182G	PRR3_ENST00000376557.3_Silent_p.G161G|PRR3_ENST00000498336.1_3'UTR	NM_025263.3	NP_079539.2	P79522	PRR3_HUMAN	proline rich 3	182							nucleic acid binding|zinc ion binding			lung(1)|ovary(1)	2						ACCATCCAGGCGTCAATGGAC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	158	159			NA	NA	6		NA											NA				30530251		2028	4216	6244	SO:0001819	synonymous_variant			AK074531	CCDS43440.1, CCDS43441.1	6p21.32	2013-01-18	2004-05-27		ENSG00000204576	ENSG00000204576	80742	80742		Zinc fingers, CCCH-type domain containing	21149	protein-coding gene	gene with protein product			proline-rich polpeptide 3		NA		Standard	NM_025263	NM_025263	NA	Approved	CAT56, Em:AB014077.1, Em:AB023052.2	uc003nqi.2	P79522	OTTHUMG00000031037	ENST00000376560.3:c.546C>T	6.37:g.30530251C>T		NA	A1A4H4|Q5RJB5|Q5STN6	37	CCDS43440.1																																																																																			PRR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076033.2		+	ENST00000376560.3	Silent	SNP	6 : 30530251 - 30530251 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	853	164
GRIN2C	2905	broad.mit.edu	37	17	72838586	72838586	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72838586C>T	ENST00000293190.5	-	13	3836	c.3690G>A	c.(3688-3690)gaG>gaA	p.E1230E		NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	1230					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	ACACTTCTGACTCCAGACTGG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	26	26			NA	NA	17		NA											NA				72838586		2203	4300	6503	SO:0001819	synonymous_variant				CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509	2905	2905		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4587	protein-coding gene	gene with protein product		138254		NMDAR2C	NA	9480759	Standard		NM_001278553	NA	Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.3690G>A	17.37:g.72838586C>T		NA	B2RTT1	37	CCDS32724.1																																																																																			GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000103824.1		-	ENST00000293190.5	Silent	SNP	17 : 72838586 - 72838586 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	37
PLCL1	5334	broad.mit.edu	37	2	198950755	198950755	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198950755C>T	ENST00000428675.1	+	2	2912	c.2514C>T	c.(2512-2514)caC>caT	p.H838H	PLCL1_ENST00000437704.2_Silent_p.H740H	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	838					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.H740H(2)|p.H838H(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TCATGGAGCACGTAACCCTTT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				3	Substitution - coding silent(3)	endometrium(2)|large_intestine(1)											175	147	156			NA	NA	2		NA											NA				198950755		2203	4300	6503	SO:0001819	synonymous_variant			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896	5334	5334			9063	protein-coding gene	gene with protein product	phospholipase C related, but catalytically inactive protein, protein phosphatase 1, regulatory subunit 127	600597	phospholipase C, epsilon	PLCE	NA	7633416	Standard	NM_006226	NM_006226	NA	Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2514C>T	2.37:g.198950755C>T		NA	Q3MJ90|Q53SD3|Q7Z3S3	37	CCDS2326.2																																																																																			PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340210.1		+	ENST00000428675.1	Silent	SNP	2 : 198950755 - 198950755 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	384	106
MAP1B	4131	broad.mit.edu	37	5	71492907	71492907	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71492907G>A	ENST00000296755.7	+	5	4023	c.3725G>A	c.(3724-3726)aGc>aAc	p.S1242N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1242						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ATCAAAGATAGCATCTCAGCT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(17;367 822 11631 31730 47712)							NA				0													90	84	86			NA	NA	5		NA											NA				71492907		2203	4300	6503	SO:0001583	missense			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711	4131	4131			6836	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 102	157129			NA	1881920	Standard	NM_005909	NM_005909	NA	Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.3725G>A	5.37:g.71492907G>A	ENSP00000296755:p.Ser1242Asn	NA	A2BDK5	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	6.591	0.477422	0.12521	.	.	ENSG00000131711	ENST00000296755	T	0.03212	4.01	5.42	2.52	0.30459	.	0.507002	0.19548	N	0.111629	T	0.01870	0.0059	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.09377	0.004;0.004	T	0.46925	-0.9156	10	0.27785	T	0.31	-2.3124	5.2439	0.15487	0.215:0.4979:0.2178:0.0693	.	1116;1242	A2BDK6;P46821	.;MAP1B_HUMAN	N	1242	ENSP00000296755:S1242N	ENSP00000296755:S1242N	S	+	2	0	MAP1B	71528663	0.000000	0.05858	0.002000	0.10522	0.073000	0.16967	-0.428000	0.06991	0.680000	0.31366	-0.120000	0.15030	AGC	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000218561.6		+	ENST00000296755.7	Missense_Mutation	SNP	5 : 71492907 - 71492907 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	387	56
SCD	6319	broad.mit.edu	37	10	102114262	102114262	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102114262C>T	ENST00000370355.2	+	4	901	c.520C>T	c.(520-522)Cga>Tga	p.R174*		NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	174					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		TCATAATTCCCGACGTGGCTT	0.507		NA											C	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	2e-04	SNP	Colon(67;260 1459 9574 11663)							NA				0													110	105	107			NA	NA	10		NA											NA				102114262		2203	4300	6503	SO:0001587	stop_gained			AF097514	CCDS7493.1	10q23-q24	2013-01-25			ENSG00000099194	ENSG00000099194	6319	6319	1.14.19.1	Fatty acid desaturases	10571	protein-coding gene	gene with protein product	acyl-CoA desaturase, fatty acid desaturase, delta-9-desaturase	604031	stearoyl-CoA desaturase opposite strand	SCDOS	NA	7909540, 10229681	Standard	NM_005063	NM_005063	NA	Approved	FADS5	uc001kqy.3	O00767	OTTHUMG00000018906	ENST00000370355.2:c.520C>T	10.37:g.102114262C>T	ENSP00000359380:p.Arg174*	NA	B2R5U0|D3DR68|Q16150|Q53GR9|Q5W037|Q5W038|Q6GSS4|Q96KF6|Q9BS07|Q9Y695	37	CCDS7493.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	39	7.367420	0.98238	.	.	ENSG00000099194	ENST00000423840;ENST00000370355	.	.	.	5.39	3.46	0.39613	.	0.267034	0.25236	N	0.032132	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-13.626	9.3816	0.38318	0.4808:0.4005:0.1187:0.0	.	.	.	.	X	174	.	ENSP00000359380:R174X	R	+	1	2	SCD	102104252	0.037000	0.19845	0.995000	0.50966	0.869000	0.49853	0.575000	0.23729	0.590000	0.29694	0.563000	0.77884	CGA	SCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049857.2		+	ENST00000370355.2	Nonsense_Mutation	SNP	10 : 102114262 - 102114262 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	682	97
GPR112	139378	broad.mit.edu	37	X	135429170	135429170	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135429170C>T	ENST00000394143.1	+	6	3596	c.3305C>T	c.(3304-3306)gCa>gTa	p.A1102V	GPR112_ENST00000412101.1_Missense_Mutation_p.A897V|GPR112_ENST00000287534.4_Missense_Mutation_p.A1039V|GPR112_ENST00000394141.1_Missense_Mutation_p.A897V|GPR112_ENST00000370652.1_Missense_Mutation_p.A1102V	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1102					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACATCCATGGCAGTTCCTTCT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	139	148			NA	NA	X		NA											NA				135429170		2203	4300	6503	SO:0001583	missense			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920	139378	139378		-, GPCR / Class B : Orphans	18992	protein-coding gene	gene with protein product					NA	12435584	Standard		XM_005262367	NA	Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3305C>T	X.37:g.135429170C>T	ENSP00000377699:p.Ala1102Val	NA	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	C	9.123	1.009460	0.19277	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.41400	1.03;1.03;1.0;1.1;1.0	2.82	-1.72	0.08107	.	.	.	.	.	T	0.17662	0.0424	N	0.14661	0.345	0.09310	N	1	P;B;B	0.36909	0.573;0.035;0.02	B;B;B	0.33521	0.165;0.01;0.004	T	0.15065	-1.0450	9	0.19590	T	0.45	.	2.4094	0.04420	0.409:0.3085:0.0:0.2825	.	1039;897;1102	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	V	1102;1102;897;1039;897	ENSP00000377699:A1102V;ENSP00000359686:A1102V;ENSP00000416526:A897V;ENSP00000287534:A1039V;ENSP00000377697:A897V	ENSP00000287534:A1039V	A	+	2	0	GPR112	135256836	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	0.277000	0.18734	-0.434000	0.07275	-0.413000	0.06143	GCA	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286639.1		+	ENST00000394143.1	Missense_Mutation	SNP	X : 135429170 - 135429170 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	619	165
DEPDC5	9681	broad.mit.edu	37	22	32270272	32270272	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32270272C>A	ENST00000382112.3	+	35	3620	c.3550C>A	c.(3550-3552)Ctg>Atg	p.L1184M	DEPDC5_ENST00000400246.1_Missense_Mutation_p.L1193M|DEPDC5_ENST00000539165.1_Missense_Mutation_p.L10M|DEPDC5_ENST00000400249.2_Missense_Mutation_p.L1162M|DEPDC5_ENST00000400248.2_Missense_Mutation_p.L1162M|DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000382105.2_Missense_Mutation_p.L1115M|DEPDC5_ENST00000535622.1_Missense_Mutation_p.L1093M|DEPDC5_ENST00000382111.2_Missense_Mutation_p.L1193M|DEPDC5_ENST00000266091.3_Missense_Mutation_p.L1171M	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1162	DEP.				intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGGAGTCCAGCTGCTCTCTGA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	45	44			NA	NA	22		NA											NA				32270272		2047	4195	6242	SO:0001583	missense			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150	9681	9681			18423	protein-coding gene	gene with protein product		614191			NA	23542697, 23542701	Standard	NM_014662	NM_001242896	NA	Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.3550C>A	22.37:g.32270272C>A	ENSP00000371546:p.Leu1184Met	NA	A6H8V6|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	37	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.985187|3.985187	0.74474|0.74474	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000433147|ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248;ENST00000539165	.|T;T;T;T;T;T;T;T;T	.|0.37915	.|2.35;2.35;2.35;2.35;1.17;2.35;2.35;2.35;2.35	4.92|4.92	3.88|3.88	0.44766|0.44766	.|DEP domain (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.51041|0.51041	0.1651|0.1651	L|L	0.57536|0.57536	1.79|1.79	0.54753|0.54753	D|D	0.999984|0.999984	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.91635	.|0.999;0.999;0.999;0.998;0.999;0.999	T|T	0.34925|0.34925	-0.9809|-0.9809	5|10	.|0.16420	.|T	.|0.52	.|.	12.9143|12.9143	0.58197|0.58197	0.0:0.9195:0.0:0.0805|0.0:0.9195:0.0:0.0805	.|.	.|1193;1093;579;1171;1184;1162	.|B9EGN9;B4DH93;O75140-7;O75140-4;A8MPX9;O75140	.|.;.;.;.;.;DEPD5_HUMAN	D|M	568|1093;1171;1162;1093;1193;1115;1184;1193;1162;10	.|ENSP00000440210:L1093M;ENSP00000266091:L1171M;ENSP00000383108:L1162M;ENSP00000383105:L1193M;ENSP00000371539:L1115M;ENSP00000371546:L1184M;ENSP00000371545:L1193M;ENSP00000383107:L1162M;ENSP00000446286:L10M	.|ENSP00000266091:L1171M	A|L	+|+	2|1	0|2	DEPDC5|DEPDC5	30600272|30600272	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	3.227000|3.227000	0.51262|0.51262	2.558000|2.558000	0.86282|0.86282	0.561000|0.561000	0.74099|0.74099	GCT|CTG	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000129087.1		+	ENST00000382112.3	Missense_Mutation	SNP	22 : 32270272 - 32270272 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	74	17
PRTG	283659	broad.mit.edu	37	15	55972411	55972411	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55972411C>A	ENST00000389286.4	-	6	862		c.e6-1			NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	NA					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GATTTGTGATCTATTTCAAAG	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	53	54			NA	NA	15		NA											NA				55972411		1837	4088	5925	SO:0001630	splice_region_variant			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450	283659	283659		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	26373	protein-coding gene	gene with protein product	immunoglobulin superfamily, DCC subclass, member 5	613261	protogenin homolog (Gallus gallus)		NA		Standard	NM_173814	NM_173814	NA	Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.815-1G>T	15.37:g.55972411C>A		NA	Q8N7D8	37	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134080	0.77662	.	.	ENSG00000166450	ENST00000389286	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0063	0.92852	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRTG	53759703	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.583000	0.82559	2.809000	0.96659	0.467000	0.42956	.	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419357.1	Intron	-	ENST00000389286.4	Splice_Site	SNP	15 : 55972411 - 55972411 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	181	36
SCGB2A1	4246	broad.mit.edu	37	11	61977935	61977935	+	Missense_Mutation	SNP	G	G	A	rs145763601	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61977935G>A	ENST00000244930.4	+	2	170	c.106G>A	c.(106-108)Gac>Aac	p.D36N		NM_002407.2	NP_002398.1	O75556	SG2A1_HUMAN	secretoglobin, family 2A, member 1	36						extracellular region	androgen binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6						CATCAATTCCGACATATCTAT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ASN/ASP	11,4393	17.9+/-39.9	0,11,2191	103	109	107		106	-7.1	0	11	dbSNP_134	107	0,8598		0,0,4299	yes	missense	SCGB2A1	NM_002407.2	23	0,11,6490	AA,AG,GG	NA	0.0,0.2498,0.0846	benign	36/96	61977935	11,12991	2202	4299	6501	SO:0001583	missense			AF071219	CCDS8016.1	11q13	2011-12-14	2002-03-22	2002-03-22	ENSG00000124939	ENSG00000124939	4246	4246		Secretoglobins	7051	protein-coding gene	gene with protein product	lipophilin C, mammaglobin B, lacryglobin	604398	mammaglobin 2	MGB2	NA	9806831, 22155607	Standard	NM_002407	NM_002407	NA	Approved	UGB3, LPHC, MGC71973	uc001nta.2	O75556	OTTHUMG00000167506	ENST00000244930.4:c.106G>A	11.37:g.61977935G>A	ENSP00000244930:p.Asp36Asn	NA		37	CCDS8016.1	.	.	.	.	.	.	.	.	.	.	G	8.640	0.895658	0.17686	0.002498	0.0	ENSG00000124939	ENST00000244930	T	0.39997	1.05	3.54	-7.08	0.01558	.	.	.	.	.	T	0.16599	0.0399	.	.	.	0.09310	N	1	P	0.44946	0.846	B	0.36534	0.227	T	0.06552	-1.0820	8	0.19147	T	0.46	.	1.3238	0.02121	0.1647:0.3311:0.2854:0.2188	.	36	O75556	SG2A1_HUMAN	N	36	ENSP00000244930:D36N	ENSP00000244930:D36N	D	+	1	0	SCGB2A1	61734511	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.952000	0.00677	-3.616000	0.00131	-0.315000	0.08773	GAC	SCGB2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394857.1		+	ENST00000244930.4	Missense_Mutation	SNP	11 : 61977935 - 61977935 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	694	108
DIAPH1	1729	broad.mit.edu	37	5	140962828	140962828	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140962828C>T	ENST00000389054.3	-	6	705	c.565G>A	c.(565-567)Gcc>Acc	p.A189T	DIAPH1_ENST00000389057.5_Missense_Mutation_p.A180T|DIAPH1_ENST00000398557.4_Missense_Mutation_p.A189T|DIAPH1_ENST00000520569.1_Missense_Mutation_p.A135T|DIAPH1_ENST00000398566.3_Missense_Mutation_p.A180T|DIAPH1_ENST00000253811.6_Missense_Mutation_p.A189T|DIAPH1_ENST00000398562.2_Missense_Mutation_p.A180T|DIAPH1_ENST00000518047.1_Missense_Mutation_p.A180T			O60610	DIAP1_HUMAN	diaphanous-related formin 1	189	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATAAGGAGGCCAAGCCTTCA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	160	162			NA	NA	5		NA											NA				140962828		1935	4150	6085	SO:0001583	missense			BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504	1729	1729			2876	protein-coding gene	gene with protein product		602121	diaphanous (Drosophila, homolog) 1, diaphanous homolog 1 (Drosophila)	DFNA1	NA	9360932, 1350680	Standard	NM_005219	NM_005219	NA	Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000389054.3:c.565G>A	5.37:g.140962828C>T	ENSP00000373706:p.Ala189Thr	NA	A6NF18|B7ZKW2|Q59FH8|Q9UC76	37		.	.	.	.	.	.	.	.	.	.	C	17.31	3.356752	0.61293	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	D;D;D;D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42	5.92	3.16	0.36331	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.000000	0.64402	D	0.000001	T	0.76183	0.3952	N	0.25647	0.755	0.36354	D	0.860293	B;P	0.35192	0.429;0.489	B;B	0.25291	0.043;0.059	T	0.72487	-0.4278	10	0.48119	T	0.1	.	4.3467	0.11136	0.2726:0.5099:0.0:0.2175	.	180;189	E9PEZ2;O60610	.;DIAP1_HUMAN	T	189;135;180;180;180;189;189;180	ENSP00000373706:A189T;ENSP00000429282:A135T;ENSP00000381570:A180T;ENSP00000373709:A180T;ENSP00000381572:A180T;ENSP00000381565:A189T;ENSP00000253811:A189T;ENSP00000428268:A180T	ENSP00000253811:A189T	A	-	1	0	DIAPH1	140943012	0.920000	0.31207	1.000000	0.80357	0.989000	0.77384	1.064000	0.30579	0.394000	0.25230	0.650000	0.86243	GCC	DIAPH1-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000313771.3		-	ENST00000389054.3	Missense_Mutation	SNP	5 : 140962828 - 140962828 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	827	173
FBXL2	25827	broad.mit.edu	37	3	33415414	33415414	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33415414G>A	ENST00000484457.1	+	9	748		c.e9+1		FBXL2_ENST00000538181.1_Splice_Site|FBXL2_ENST00000542085.1_Splice_Site|FBXL2_ENST00000538892.1_Splice_Site|FBXL2_ENST00000507198.1_Splice_Site|FBXL2_ENST00000446237.3_Splice_Site|FBXL2_ENST00000283627.6_Splice_Site	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	NA					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						GTCCTGCTCAGTAAGTAGCGT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	143	146			NA	NA	3		NA											NA				33415414		2203	4300	6503	SO:0001630	splice_region_variant			AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558	25827	25827		F-boxes / Leucine-rich repeats	13598	protein-coding gene	gene with protein product		605652			NA	10508920, 10531035	Standard	NM_012157	NM_012157	NA	Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000484457.1:c.657+1G>A	3.37:g.33415414G>A		NA	Q6IAN3|Q9NVQ8|Q9UK27|Q9UKA5|Q9Y3Y9	37	CCDS2658.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953424	0.73902	.	.	ENSG00000153558	ENST00000484457;ENST00000538892;ENST00000538181;ENST00000507198	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8767	0.96875	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FBXL2	33390418	1.000000	0.71417	0.996000	0.52242	0.655000	0.38815	9.722000	0.98770	2.873000	0.98535	0.644000	0.83932	.	FBXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253245.2	Intron	+	ENST00000484457.1	Splice_Site	SNP	3 : 33415414 - 33415414 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	330	69
SND1	27044	broad.mit.edu	37	7	127714631	127714631	+	Silent	SNP	C	C	T	rs138799870	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127714631C>T	ENST00000354725.3	+	17	2051	c.1857C>T	c.(1855-1857)tcC>tcT	p.S619S		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	619	TNase-like 4.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CCAACCTGTCCGTCCTGCTGG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	105	67	80		1857	-4.7	1	7	dbSNP_134	80	12,8588	9.8+/-36.6	0,12,4288	no	coding-synonymous	SND1	NM_014390.2		0,12,6491	TT,TC,CC	NA	0.1395,0.0,0.0923		619/911	127714631	12,12994	2203	4300	6503	SO:0001819	synonymous_variant				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157	27044	27044		Tudor domain containing	30646	protein-coding gene	gene with protein product	p100 EBNA2 co-activator, Tudor-SN	602181			NA	7651391, 9003410, 12819296	Standard	NM_014390	NM_014390	NA	Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.1857C>T	7.37:g.127714631C>T		NA	Q13122|Q96AG0	37	CCDS34747.1																																																																																			SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349148.1		+	ENST00000354725.3	Silent	SNP	7 : 127714631 - 127714631 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	172	20
PPP4R4	57718	broad.mit.edu	37	14	94725670	94725670	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94725670A>C	ENST00000304338.3	+	19	2245	c.2091A>C	c.(2089-2091)caA>caC	p.Q697H		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	697						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TGTTGGATCAAGAGAAAGAAA	0.274		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	29	28			NA	NA	14		NA											NA				94725670		2189	4287	6476	SO:0001583	missense			AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698	57718	57718		Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits	23788	protein-coding gene	gene with protein product	cilia and flagella associated protein 14		KIAA1622	KIAA1622	NA	18715871	Standard	NM_058237	NM_020958	NA	Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.2091A>C	14.37:g.94725670A>C	ENSP00000305924:p.Gln697His	NA	Q9BUF8|Q9HCF0	37	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	A	17.19	3.326833	0.60743	.	.	ENSG00000119698	ENST00000304338	.	.	.	5.09	3.76	0.43208	.	0.217642	0.40728	N	0.001033	T	0.69424	0.3109	M	0.68952	2.095	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.71213	-0.4659	9	0.66056	D	0.02	-13.8615	7.9117	0.29796	0.8219:0.0:0.1781:0.0	.	697	Q6NUP7	PP4R4_HUMAN	H	697	.	ENSP00000305924:Q697H	Q	+	3	2	PPP4R4	93795423	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.117000	0.41939	2.028000	0.59812	0.377000	0.23210	CAA	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413056.1		+	ENST00000304338.3	Missense_Mutation	SNP	14 : 94725670 - 94725670 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	143	23
WDR88	126248	broad.mit.edu	37	19	33647385	33647385	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33647385G>T	ENST00000361680.2	+	7	1012	c.934G>T	c.(934-936)Gcc>Tcc	p.A312S	WDR88_ENST00000355868.3_Missense_Mutation_p.A312S			Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	312										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					AAACTGTGGAGCCTGTGTGAC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	103	105			NA	NA	19		NA											NA				33647385		2203	4300	6503	SO:0001583	missense			BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359	126248	126248		WD repeat domain containing	26999	protein-coding gene	gene with protein product			PQQ repeat and WD repeat domain containing	PQWD	NA	12477932	Standard	NM_173479	NM_173479	NA	Approved		uc002nui.3	Q6ZMY6		ENST00000361680.2:c.934G>T	19.37:g.33647385G>T	ENSP00000355148:p.Ala312Ser	NA	Q8NEF8	37		.	.	.	.	.	.	.	.	.	.	G	12.71	2.020014	0.35606	.	.	ENSG00000166359	ENST00000355868;ENST00000361680	T;T	0.38887	1.11;1.11	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.147620	0.06325	N	0.705236	T	0.52629	0.1746	L	0.38649	1.16	0.24566	N	0.99394	D	0.61080	0.989	P	0.60173	0.87	T	0.42999	-0.9418	10	0.20046	T	0.44	.	13.2963	0.60298	0.0:0.2597:0.7403:0.0	.	312	Q6ZMY6	WDR88_HUMAN	S	312	ENSP00000348129:A312S;ENSP00000355148:A312S	ENSP00000348129:A312S	A	+	1	0	WDR88	38339225	1.000000	0.71417	0.980000	0.43619	0.111000	0.19643	3.803000	0.55560	2.639000	0.89480	0.555000	0.69702	GCC	WDR88-002	KNOWN	NMD_exception|basic	protein_coding	NA	protein_coding	OTTHUMT00000450839.2		+	ENST00000361680.2	Missense_Mutation	SNP	19 : 33647385 - 33647385 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	531	53
RTKN	6242	broad.mit.edu	37	2	74654384	74654384	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74654384G>A	ENST00000233330.6	-	11	1439	c.1122C>T	c.(1120-1122)tgC>tgT	p.C374C	RTKN_ENST00000272430.5_Silent_p.C424C|RTKN_ENST00000305557.5_Silent_p.C411C	NM_001015056.1	NP_001015056.1	Q9BST9	RTKN_HUMAN	rhotekin	424	PH.				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						TTTCATCACAGCACTGCTTCC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	102	102			NA	NA	2		NA											NA				74654384		2203	4300	6503	SO:0001819	synonymous_variant			AF049227	CCDS1941.1, CCDS33226.1, CCDS42699.1	2p13.1	2013-01-10			ENSG00000114993	ENSG00000114993	6242	6242		Pleckstrin homology (PH) domain containing	10466	protein-coding gene	gene with protein product		602288			NA	9073523, 10940294	Standard	NM_001015055	XM_005264478	NA	Approved	B5	uc002sle.3	Q9BST9	OTTHUMG00000129955	ENST00000233330.6:c.1122C>T	2.37:g.74654384G>A		NA	Q8WVN1|Q96PT6|Q9HB05	37	CCDS42699.1																																																																																			RTKN-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328236.3		-	ENST00000233330.6	Silent	SNP	2 : 74654384 - 74654384 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	507	82
TM9SF3	56889	broad.mit.edu	37	10	98325081	98325081	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98325081A>G	ENST00000371142.4	-	3	617	c.401T>C	c.(400-402)aTa>aCa	p.I134T		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	134						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TAAATCATCTATGTACATCTG	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	156	155			NA	NA	10		NA											NA				98325081		2202	4296	6498	SO:0001583	missense			AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147	56889	56889			21529	protein-coding gene	gene with protein product					NA	11530251, 11595169	Standard	NM_020123	NM_020123	NA	Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.401T>C	10.37:g.98325081A>G	ENSP00000360184:p.Ile134Thr	NA	Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	37	CCDS7450.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.605645	0.87157	.	.	ENSG00000077147	ENST00000371142;ENST00000443638	T;T	0.50548	0.74;0.74	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.73024	0.3534	M	0.93978	3.48	0.80722	D	1	D	0.53462	0.96	P	0.57244	0.816	T	0.80957	-0.1150	10	0.72032	D	0.01	-19.9242	15.3	0.73940	1.0:0.0:0.0:0.0	.	134	Q9HD45	TM9S3_HUMAN	T	134;90	ENSP00000360184:I134T;ENSP00000401152:I90T	ENSP00000360184:I134T	I	-	2	0	TM9SF3	98315071	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.921000	0.92784	2.201000	0.70794	0.460000	0.39030	ATA	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049610.2		-	ENST00000371142.4	Missense_Mutation	SNP	10 : 98325081 - 98325081 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	488	24
GZF1	64412	broad.mit.edu	37	20	23346039	23346039	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23346039A>G	ENST00000338121.5	+	2	1096	c.1019A>G	c.(1018-1020)cAc>cGc	p.H340R	GZF1_ENST00000377051.2_Missense_Mutation_p.H340R|GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	340					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					AAGCACCGCCACGGCGTGGCC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	69	68			NA	NA	20		NA											NA				23346039		2203	4300	6503	SO:0001583	missense			AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812	64412	64412		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	15808	protein-coding gene	gene with protein product		613842	zinc finger protein 336	ZNF336	NA	14522971, 16049025	Standard	NM_022482	NM_022482	NA	Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.1019A>G	20.37:g.23346039A>G	ENSP00000338290:p.His340Arg	NA	A8K199|B2RBC3|B3KPL4|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	37	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	A	8.724	0.914995	0.17907	.	.	ENSG00000125812	ENST00000338121;ENST00000377051	T;T	0.28895	1.59;1.59	4.15	4.15	0.48705	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.64402	D	0.000006	T	0.22244	0.0536	N	0.22421	0.69	0.80722	D	1	B	0.11235	0.004	B	0.12156	0.007	T	0.05784	-1.0864	10	0.59425	D	0.04	.	12.808	0.57624	1.0:0.0:0.0:0.0	.	340	Q9H116	GZF1_HUMAN	R	340	ENSP00000338290:H340R;ENSP00000366250:H340R	ENSP00000338290:H340R	H	+	2	0	GZF1	23294039	1.000000	0.71417	0.536000	0.28039	0.013000	0.08279	9.087000	0.94110	1.879000	0.54435	0.455000	0.32223	CAC	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078333.1		+	ENST00000338121.5	Missense_Mutation	SNP	20 : 23346039 - 23346039 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	667	113
KIFC3	3801	broad.mit.edu	37	16	57803523	57803523	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57803523C>A	ENST00000543930.1	-	7	1345	c.785G>T	c.(784-786)aGg>aTg	p.R262M	KIFC3_ENST00000539578.1_Missense_Mutation_p.R343M|KIFC3_ENST00000421376.2_Missense_Mutation_p.R262M|KIFC3_ENST00000379655.4_Missense_Mutation_p.R401M|KIFC3_ENST00000540079.2_Missense_Mutation_p.R299M|KIFC3_ENST00000445690.2_Missense_Mutation_p.R401M|KIFC3_ENST00000562903.1_Missense_Mutation_p.R262M|KIFC3_ENST00000465878.2_Missense_Mutation_p.R262M|KIFC3_ENST00000541240.1_Missense_Mutation_p.R423M			Q9BVG8	KIFC3_HUMAN	kinesin family member C3	401					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				CTTGACACTCCTGAGGGCCTC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	39	39			NA	NA	16		NA											NA				57803523		2198	4300	6498	SO:0001583	missense			BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859	3801	3801		Kinesins	6326	protein-coding gene	gene with protein product		604535			NA	9782090	Standard	NM_005550	NM_001130099	NA	Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000543930.1:c.785G>T	16.37:g.57803523C>A	ENSP00000444012:p.Arg262Met	NA	O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	37		.	.	.	.	.	.	.	.	.	.	C	12.67	2.006246	0.35415	.	.	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000421376;ENST00000541240;ENST00000540079;ENST00000543930;ENST00000539578	T;T;T;T;T;T;T	0.75477	-0.86;-0.86;-0.86;-0.87;-0.85;-0.94;-0.87	5.86	-3.14	0.05250	.	0.730840	0.14053	N	0.344569	T	0.67401	0.2889	L	0.39898	1.24	0.09310	N	1	P;P;B;B;B;P;B	0.39181	0.533;0.663;0.24;0.238;0.153;0.533;0.102	B;B;B;B;B;B;B	0.43251	0.155;0.413;0.155;0.357;0.111;0.155;0.078	T	0.63708	-0.6576	10	0.54805	T	0.06	.	13.8935	0.63755	0.0:0.5905:0.0:0.4095	.	423;343;262;299;106;401;262	B7Z484;F5H4I9;B7Z896;F5H3M2;B7Z3I6;Q9BVG8;A8K6S2	.;.;.;.;.;KIFC3_HUMAN;.	M	401;401;262;423;299;262;343	ENSP00000368976:R401M;ENSP00000401696:R401M;ENSP00000396399:R262M;ENSP00000442008:R423M;ENSP00000438805:R299M;ENSP00000444012:R262M;ENSP00000444884:R343M	ENSP00000368976:R401M	R	-	2	0	KIFC3	56361024	0.001000	0.12720	0.014000	0.15608	0.233000	0.25261	-0.416000	0.07097	-0.452000	0.07087	0.655000	0.94253	AGG	KIFC3-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000432168.1		-	ENST00000543930.1	Missense_Mutation	SNP	16 : 57803523 - 57803523 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	348	64
GRAP2	9402	broad.mit.edu	37	22	40367030	40367030	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40367030G>A	ENST00000344138.4	+	8	1198	c.935G>A	c.(934-936)cGc>cAc	p.R312H	GRAP2_ENST00000543252.1_Missense_Mutation_p.R260H|GRAP2_ENST00000399090.2_Missense_Mutation_p.R199H|GRAP2_ENST00000544756.1_Missense_Mutation_p.R240H|GRAP2_ENST00000407075.3_Missense_Mutation_p.R312H|GRAP2_ENST00000540310.1_Missense_Mutation_p.R246H	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	312	SH3 2.				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TGGACCGGCCGCCTGCACAAC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	70	74			NA	NA	22		NA											NA				40367030		2203	4300	6503	SO:0001583	missense			AF102694	CCDS13999.1	22q13.2	2013-02-14			ENSG00000100351	ENSG00000100351	9402	9402		SH2 domain containing	4563	protein-coding gene	gene with protein product		604518			NA	9878555, 10224278	Standard	NM_004810	XM_005261836	NA	Approved	Grf40, GrbX, GRBLG, GADS, Mona	uc003ayh.2	O75791	OTTHUMG00000151097	ENST00000344138.4:c.935G>A	22.37:g.40367030G>A	ENSP00000339186:p.Arg312His	NA	O43726|Q9NRB7	37	CCDS13999.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975252	0.74360	.	.	ENSG00000100351	ENST00000344138;ENST00000543252;ENST00000544006;ENST00000540310;ENST00000544756;ENST00000399090;ENST00000407075	T;T;T;T;T;T	0.55052	0.54;1.31;0.54;0.54;0.54;0.54	5.27	1.78	0.24846	Src homology-3 domain (5);	0.291746	0.36815	N	0.002393	T	0.51958	0.1705	L	0.39566	1.225	0.18873	N	0.999986	P;P;P;D;P	0.65815	0.884;0.956;0.718;0.995;0.914	B;P;B;P;P	0.58577	0.403;0.636;0.281;0.841;0.515	T	0.38478	-0.9659	10	0.72032	D	0.01	-6.3986	5.0818	0.14661	0.072:0.1274:0.538:0.2626	.	199;312;246;286;312	B7Z8I3;Q6FI14;F5H548;B7Z8F8;O75791	.;.;.;.;GRAP2_HUMAN	H	312;260;286;246;240;199;312	ENSP00000339186:R312H;ENSP00000446350:R260H;ENSP00000444734:R246H;ENSP00000442195:R240H;ENSP00000382040:R199H;ENSP00000385607:R312H	ENSP00000339186:R312H	R	+	2	0	GRAP2	38696976	0.755000	0.28372	0.932000	0.37286	0.984000	0.73092	3.216000	0.51176	0.569000	0.29329	0.557000	0.71058	CGC	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321295.1		+	ENST00000344138.4	Missense_Mutation	SNP	22 : 40367030 - 40367030 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	411	71
ENPP2	5168	broad.mit.edu	37	8	120581568	120581568	+	Missense_Mutation	SNP	G	G	A	rs138793770		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120581568G>A	ENST00000522167.1	-	10	950	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W	ENPP2_ENST00000522826.1_Missense_Mutation_p.R679W|ENPP2_ENST00000075322.6_Missense_Mutation_p.R654W|ENPP2_ENST00000427067.2_Missense_Mutation_p.R675W|ENPP2_ENST00000259486.6_Missense_Mutation_p.R706W			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	654					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACATCAGGCCGGACGCAACTG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(20;305 879 2501 4818 31020)							NA				0								G	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	120	109	112		1960,2035,2116	4.5	1	8	dbSNP_134	112	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ENPP2	NM_001040092.1,NM_001130863.1,NM_006209.3	101,101,101	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	654/864,679/889,706/916	120581568	1,13005	2203	4300	6503	SO:0001583	missense			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	5168	5168	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	autotaxin	601060		PDNP2	NA	8586446	Standard		NM_001040092	NA	Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000522167.1:c.865C>T	8.37:g.120581568G>A	ENSP00000429476:p.Arg289Trp	NA	A8UHA1|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	37		.	.	.	.	.	.	.	.	.	.	G	18.15	3.560122	0.65538	0.0	1.16E-4	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	5.36	4.47	0.54385	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.000000	0.85682	D	0.000000	D	0.82318	0.5011	M	0.83223	2.63	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.988;1.0;1.0;1.0;1.0	D	0.85082	0.0946	10	0.87932	D	0	.	13.9544	0.64137	0.0:0.0:0.7101:0.2899	.	192;679;654;706;289	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	W	706;675;289;679;654	ENSP00000259486:R706W;ENSP00000403315:R675W;ENSP00000429476:R289W;ENSP00000428291:R679W;ENSP00000075322:R654W	ENSP00000075322:R654W	R	-	1	2	ENPP2	120650749	0.962000	0.33011	0.986000	0.45419	0.653000	0.38743	1.304000	0.33482	1.221000	0.43506	0.650000	0.86243	CGG	ENPP2-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000381388.1		-	ENST00000522167.1	Missense_Mutation	SNP	8 : 120581568 - 120581568 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	407	65
PCDHB8	56128	broad.mit.edu	37	5	140559622	140559622	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140559622G>T	ENST00000239444.2	+	1	2252	c.2007G>T	c.(2005-2007)caG>caT	p.Q669H		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	669	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTTCTCCCAGCCCTACCTGC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	45	44			NA	NA	5		NA											NA				140559622		2180	4257	6437	SO:0001583	missense			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322	56128	56128		Cadherins / Protocadherins : Clustered	8693	other	protocadherin		606334			NA	10380929	Standard	NM_019120	NM_019120	NA	Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.2007G>T	5.37:g.140559622G>T	ENSP00000239444:p.Gln669His	NA		37	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	G	9.663	1.144642	0.21288	.	.	ENSG00000120322	ENST00000239444	T	0.48836	0.8	4.22	2.2	0.27929	Cadherin (2);	.	.	.	.	T	0.44953	0.1318	M	0.67700	2.07	0.26343	N	0.977333	P	0.40731	0.728	B	0.41764	0.366	T	0.47471	-0.9115	9	0.87932	D	0	.	4.5376	0.12042	0.0925:0.2229:0.5509:0.1337	.	669	Q9UN66	PCDB8_HUMAN	H	669	ENSP00000239444:Q669H	ENSP00000239444:Q669H	Q	+	3	2	PCDHB8	140539806	0.000000	0.05858	1.000000	0.80357	0.347000	0.29111	-0.034000	0.12225	1.915000	0.55452	0.298000	0.19748	CAG	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251816.2		+	ENST00000239444.2	Missense_Mutation	SNP	5 : 140559622 - 140559622 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	738	137
WDFY3	23001	broad.mit.edu	37	4	85715716	85715716	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85715716C>T	ENST00000295888.4	-	21	3850	c.3443G>A	c.(3442-3444)cGa>cAa	p.R1148Q	WDFY3_ENST00000322366.6_Missense_Mutation_p.R1148Q	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1148						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AATCAGAGATCGGTCTTTTGC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	150	149			NA	NA	4		NA											NA				85715716		2203	4300	6503	SO:0001583	missense			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625	23001	23001		Zinc fingers, FYVE domain containing, WD repeat domain containing	20751	protein-coding gene	gene with protein product					NA	10231032	Standard	NM_014991	NM_014991	NA	Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.3443G>A	4.37:g.85715716C>T	ENSP00000295888:p.Arg1148Gln	NA	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152751	0.78001	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.47177	0.85;0.85	5.16	5.16	0.70880	Concanavalin A-like lectin/glucanase (1);	0.059441	0.64402	D	0.000002	T	0.38612	0.1047	L	0.53249	1.67	0.80722	D	1	P	0.46395	0.877	B	0.34138	0.176	T	0.39502	-0.9611	10	0.45353	T	0.12	.	12.3958	0.55384	0.0:0.9226:0.0:0.0774	.	1148	Q8IZQ1	WDFY3_HUMAN	Q	1148	ENSP00000318466:R1148Q;ENSP00000295888:R1148Q	ENSP00000295888:R1148Q	R	-	2	0	WDFY3	85934740	1.000000	0.71417	0.987000	0.45799	0.962000	0.63368	5.538000	0.67193	2.563000	0.86464	0.650000	0.86243	CGA	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252811.2		-	ENST00000295888.4	Missense_Mutation	SNP	4 : 85715716 - 85715716 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	984	120
WNT6	7475	broad.mit.edu	37	2	219738522	219738522	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219738522G>A	ENST00000233948.3	+	4	1270	c.1053G>A	c.(1051-1053)caG>caA	p.Q351Q		NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	351					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGTAGTACAGTGCCACCGCT	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	10	11			NA	NA	2		NA											NA				219738522		2130	4176	6306	SO:0001819	synonymous_variant			AF079522	CCDS2425.1	2q35	2008-05-23			ENSG00000115596	ENSG00000115596	7475	7475		Wingless-type MMTV integration sites	12785	protein-coding gene	gene with protein product		604663			NA	10343101, 11350055	Standard	NM_006522	NM_006522	NA	Approved		uc002vjc.1	Q9Y6F9	OTTHUMG00000133082	ENST00000233948.3:c.1053G>A	2.37:g.219738522G>A		NA	Q9H1J6|Q9H238	37	CCDS2425.1																																																																																			WNT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256727.2		+	ENST00000233948.3	Silent	SNP	2 : 219738522 - 219738522 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	104	21
SLC35B4	84912	broad.mit.edu	37	7	133991519	133991519	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:133991519C>T	ENST00000378509.4	-	3	498	c.199G>A	c.(199-201)Gcc>Acc	p.A67T		NM_032826.4	NP_116215.1	Q969S0	S35B4_HUMAN	solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4	67						Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity			large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						ACCATTATGGCATAGTACCTG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	87	96			NA	NA	7		NA											NA				133991519		2203	4300	6503	SO:0001583	missense			AB052892	CCDS34756.1	7q33	2013-07-17	2013-07-17		ENSG00000205060	ENSG00000205060	84912	84912		Solute carriers	20584	protein-coding gene	gene with protein product		610923	solute carrier family 35, member B4		NA		Standard	NM_032826	NM_032826	NA	Approved	FLJ14697, YEA4	uc003vrn.3	Q969S0	OTTHUMG00000155321	ENST00000378509.4:c.199G>A	7.37:g.133991519C>T	ENSP00000367770:p.Ala67Thr	NA	A4D1P3|A6NNS4|Q53GQ7|Q8TCU7|Q96K33	37	CCDS34756.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040817	0.35989	.	.	ENSG00000205060	ENST00000378509	T	0.70516	-0.49	5.5	4.61	0.57282	.	0.408445	0.27035	N	0.021249	T	0.52869	0.1761	L	0.29908	0.895	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.13407	0.005;0.009	T	0.32534	-0.9903	10	0.22706	T	0.39	-10.5705	5.4046	0.16314	0.1271:0.5738:0.223:0.0761	.	67;67	Q969S0-2;Q969S0	.;S35B4_HUMAN	T	67	ENSP00000367770:A67T	ENSP00000367770:A67T	A	-	1	0	SLC35B4	133642059	0.104000	0.21937	0.076000	0.20297	0.850000	0.48378	0.726000	0.25984	1.445000	0.47624	0.563000	0.77884	GCC	SLC35B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339444.2		-	ENST00000378509.4	Missense_Mutation	SNP	7 : 133991519 - 133991519 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	176	30
BTK	695	broad.mit.edu	37	X	100615114	100615114	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100615114G>A	ENST00000308731.7	-	9	964	c.801C>T	c.(799-801)aaC>aaT	p.N267N	BTK_ENST00000372880.1_Silent_p.N267N	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	267	SH3.		Missing (in XLA; severe).		calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CAGTGACATAGTTACTAGGAA	0.448		NA							Agammaglobulinemia, X-linked					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	140	150			NA	NA	X		NA											NA				100615114		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	Bruton Type Agammaglobulinemia	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	695	695	2.7.10.1	Pleckstrin homology (PH) domain containing, SH2 domain containing	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1	NA	8380905	Standard	NM_000061	NM_000061	NA	Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.801C>T	X.37:g.100615114G>A		NA	Q32ML5	37	CCDS14482.1																																																																																			BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057532.2		-	ENST00000308731.7	Silent	SNP	X : 100615114 - 100615114 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	441	133
ABCA8	10351	broad.mit.edu	37	17	66925263	66925263	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66925263C>A	ENST00000269080.2	-	8	1189	c.1052G>T	c.(1051-1053)aGa>aTa	p.R351I	ABCA8_ENST00000586539.1_Missense_Mutation_p.R351I|ABCA8_ENST00000430352.2_Missense_Mutation_p.R351I	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	351						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AGGAAGGTGTCTGTACAGTGA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	79	86			NA	NA	17		NA											NA				66925263		2203	4300	6503	SO:0001583	missense			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338	10351	10351		ATP binding cassette transporters / subfamily A	38	protein-coding gene	gene with protein product		612505			NA		Standard	NM_007168	XM_005256938	NA	Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.1052G>T	17.37:g.66925263C>A	ENSP00000269080:p.Arg351Ile	NA	Q86WW0	37	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070010	0.55539	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	D;D	0.86865	-2.18;-2.18	4.67	3.7	0.42460	.	0.000000	0.56097	D	0.000028	D	0.89969	0.6869	M	0.81802	2.56	0.48341	D	0.999631	P;D;B;P;D	0.53151	0.948;0.958;0.229;0.896;0.958	P;P;B;P;P	0.58780	0.745;0.845;0.145;0.578;0.845	D	0.88299	0.2948	10	0.42905	T	0.14	.	5.3451	0.16004	0.0:0.753:0.0:0.247	.	290;351;351;351;351	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	I	351;351;290	ENSP00000269080:R351I;ENSP00000402814:R351I	ENSP00000269080:R351I	R	-	2	0	ABCA8	64436858	0.155000	0.22806	0.973000	0.42090	0.203000	0.24098	1.211000	0.32382	2.592000	0.87571	0.655000	0.94253	AGA	ABCA8-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450172.1		-	ENST00000269080.2	Missense_Mutation	SNP	17 : 66925263 - 66925263 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	260	30
FAM184A	79632	broad.mit.edu	37	6	119338092	119338092	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:119338092C>A	ENST00000522284.1	-	5	1365	c.990G>T	c.(988-990)aaG>aaT	p.K330N	FAM184A_ENST00000368475.4_Missense_Mutation_p.K330N|FAM184A_ENST00000521531.1_Missense_Mutation_p.K450N|FAM184A_ENST00000338891.7_Missense_Mutation_p.K450N|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Missense_Mutation_p.K330N			Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	450										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GCTGAGTTCTCTTTGCTTCAT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	80	81			NA	NA	6		NA											NA				119338092		1803	4066	5869	SO:0001583	missense			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879	79632	79632			20991	protein-coding gene	gene with protein product			chromosome 6 open reading frame 60	C6orf60	NA	11230166	Standard	NM_024581	NM_024581	NA	Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000522284.1:c.990G>T	6.37:g.119338092C>A	ENSP00000429826:p.Lys330Asn	NA	B9DI75|Q5TBS9|Q96GY8|Q9H0J8|Q9H851	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.44|12.44	1.938062|1.938062	0.34189|0.34189	.|.	.|.	ENSG00000111879|ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284|ENST00000448815	T;T;T;T;T|.	0.00351|.	7.97;7.97;7.97;7.97;7.97|.	4.94|4.94	2.16|2.16	0.27623|0.27623	.|.	0.154508|.	0.45867|.	D|.	0.000335|.	T|T	0.39627|0.39627	0.1085|0.1085	L|L	0.53249|0.53249	1.67|1.67	0.44635|0.44635	D|D	0.997614|0.997614	B;B;B|.	0.12630|.	0.003;0.006;0.003|.	B;B;B|.	0.12156|.	0.005;0.007;0.007|.	T|T	0.25433|0.25433	-1.0132|-1.0132	10|5	0.36615|.	T|.	0.2|.	-18.0805|-18.0805	5.6092|5.6092	0.17396|0.17396	0.1389:0.636:0.0:0.2251|0.1389:0.636:0.0:0.2251	.|.	450;330;450|.	Q8NB25-2;F8W8D6;Q8NB25|.	.;.;F184A_HUMAN|.	N|I	450;330;330;450;330|36	ENSP00000342604:K450N;ENSP00000326608:K330N;ENSP00000357460:K330N;ENSP00000430442:K450N;ENSP00000429826:K330N|.	ENSP00000342604:K450N|.	K|R	-|-	3|2	2|0	FAM184A|FAM184A	119379791|119379791	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.912000|0.912000	0.54170|0.54170	0.768000|0.768000	0.26590|0.26590	0.146000|0.146000	0.19002|0.19002	0.491000|0.491000	0.48974|0.48974	AAG|AGA	FAM184A-010	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000380869.2		-	ENST00000522284.1	Missense_Mutation	SNP	6 : 119338092 - 119338092 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	259	48
YWHAG	7532	broad.mit.edu	37	7	75959524	75959524	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75959524C>T	ENST00000307630.3	-	2	336	c.114G>A	c.(112-114)tcG>tcA	p.S38S		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma	38					G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						GTTCCTCATTCGACAGTGGCT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	58	64			NA	NA	7		NA											NA				75959524		2203	4300	6503	SO:0001819	synonymous_variant			AF142498	CCDS5584.1	7q11.23	2014-06-13	2013-12-03		ENSG00000170027	ENSG00000170027	7532	7532			12852	protein-coding gene	gene with protein product	14-3-3 gamma, protein phosphatase 1, regulatory subunit 170	605356	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide		NA	10486217, 10433554	Standard	NM_012479	NM_012479	NA	Approved	PPP1R170	uc011kgj.1	P61981	OTTHUMG00000022862	ENST00000307630.3:c.114G>A	7.37:g.75959524C>T		NA	O70457|P35214|Q6FH52|Q9UDP2|Q9UN99	37	CCDS5584.1																																																																																			YWHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253002.1		-	ENST00000307630.3	Silent	SNP	7 : 75959524 - 75959524 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	65
CTNNA3	29119	broad.mit.edu	37	10	69366623	69366623	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:69366623C>T	ENST00000433211.2	-	3	458	c.284G>A	c.(283-285)cGc>cAc	p.R95H	CTNNA3_ENST00000373744.4_Missense_Mutation_p.R95H|CTNNA3_ENST00000545309.1_Missense_Mutation_p.R95H	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	NA					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ACTTTCTTTGCGAACTTCCTC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	115	114			NA	NA	10		NA											NA				69366623		2203	4300	6503	SO:0001583	missense			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230	29119	29119			2511	protein-coding gene	gene with protein product		607667			NA	12596047, 11590244	Standard	NM_013266	XM_005269717	NA	Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.284G>A	10.37:g.69366623C>T	ENSP00000389714:p.Arg95His	NA	Q5VSR2|Q6P056	37	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735826	0.69189	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309;ENST00000330298;ENST00000540598	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.66	4.75	0.60458	.	0.381500	0.20044	N	0.100458	T	0.59742	0.2216	L	0.58510	1.815	0.42656	D	0.993463	D;P;P	0.61697	0.99;0.464;0.952	P;B;P	0.58077	0.832;0.22;0.603	T	0.63075	-0.6718	10	0.87932	D	0	-2.4162	13.8737	0.63638	0.0:0.9241:0.0:0.0759	.	95;95;95	F2Z2R0;Q9UI47-2;Q9UI47	.;.;CTNA3_HUMAN	H	95	ENSP00000389714:R95H;ENSP00000362849:R95H;ENSP00000441444:R95H;ENSP00000330570:R95H	ENSP00000330570:R95H	R	-	2	0	CTNNA3	69036629	0.948000	0.32251	1.000000	0.80357	0.984000	0.73092	1.816000	0.38992	2.671000	0.90904	0.555000	0.69702	CGC	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048282.2		-	ENST00000433211.2	Missense_Mutation	SNP	10 : 69366623 - 69366623 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	512	78
LMF2	91289	broad.mit.edu	37	22	50945279	50945279	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50945279G>A	ENST00000216080.5	-	2	373	c.205C>T	c.(205-207)Ctg>Ttg	p.L69L	LMF2_ENST00000380796.3_Silent_p.L94L|LMF2_ENST00000474879.2_Silent_p.L94L|LMF2_ENST00000505981.1_5'UTR			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	94						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGGCTCAGCAGCAGGGCTCCC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	27	28			NA	NA	22		NA											NA				50945279		2182	4290	6472	SO:0001819	synonymous_variant			BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258	91289	91289			25096	protein-coding gene	gene with protein product			transmembrane protein 153, transmembrane protein 112B	TMEM153, TMEM112B	NA	12477932	Standard	NM_033200	NM_033200	NA	Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000216080.5:c.205C>T	22.37:g.50945279G>A		NA	A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	37																																																																																				LMF2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000316832.2		-	ENST00000216080.5	Silent	SNP	22 : 50945279 - 50945279 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	76	5
KIRREL3	84623	broad.mit.edu	37	11	126294877	126294877	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126294877C>T	ENST00000525144.2	-	17	2184	c.1935G>A	c.(1933-1935)gaG>gaA	p.E645E	KIRREL3_ENST00000529097.2_Silent_p.E633E|KIRREL3_ENST00000416561.2_Silent_p.E112E	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	645					hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TTGAGTGGTGCTCTTTGAAGG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	36	33			NA	NA	11		NA											NA				126294877		2159	4270	6429	SO:0001819	synonymous_variant			AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571	84623	84623		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	23204	protein-coding gene	gene with protein product		607761			NA	12424224, 11347906	Standard	NM_032531	NM_032531	NA	Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1935G>A	11.37:g.126294877C>T		NA	Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	37	CCDS53723.1																																																																																			KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386479.2		-	ENST00000525144.2	Silent	SNP	11 : 126294877 - 126294877 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	89	11
ATMIN	23300	broad.mit.edu	37	16	81078026	81078026	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81078026C>A	ENST00000539819.1	+	0	1681				ATMIN_ENST00000566488.1_Missense_Mutation_p.F485L|ATMIN_ENST00000299575.4_Missense_Mutation_p.F641L|ATMIN_ENST00000564241.1_Missense_Mutation_p.F485L			O43313	ATMIN_HUMAN	ATM interactor	NA					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						TCGAAGAGTTCTTTTCGGCCT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	49	48			NA	NA	16		NA											NA				81078026		2202	4300	6502	SO:0001624	3_prime_UTR_variant			BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454	23300	23300		Zinc fingers, C2H2-type	29034	protein-coding gene	gene with protein product	ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein, ATM INteracting protein	614693			NA	15933716, 17525732, 19001856	Standard	NM_015251	XM_005255866	NA	Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000539819.1:c.*1678C>A	16.37:g.81078026C>A		NA	A8K4H8|Q68DC9	37		.	.	.	.	.	.	.	.	.	.	C	14.35	2.508707	0.44660	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.39229	1.09	6.17	1.43	0.22495	.	0.000000	0.85682	D	0.000000	T	0.49525	0.1562	L	0.37630	1.12	0.49051	D	0.999743	D	0.76494	0.999	D	0.80764	0.994	T	0.47873	-0.9083	10	0.87932	D	0	-26.8835	10.0453	0.42184	0.0:0.6098:0.0:0.3902	.	641	O43313	ATMIN_HUMAN	L	641;412	ENSP00000299575:F641L	ENSP00000299575:F641L	F	+	3	2	ATMIN	79635527	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	1.136000	0.31467	0.430000	0.26230	0.655000	0.94253	TTC	ATMIN-002	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000432142.1		+	ENST00000539819.1	3'UTR	SNP	16 : 81078026 - 81078026 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	65
CLIC5	53405	broad.mit.edu	37	6	45870911	45870911	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:45870911G>A	ENST00000185206.6	-	6	1299	c.1147C>T	c.(1147-1149)Cgt>Tgt	p.R383C	CLIC5_ENST00000339561.6_Missense_Mutation_p.R224C	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	383	GST C-terminal.				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						AACTCATCACGGGCATAGGCG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	106	117			NA	NA	6		NA											NA				45870911		2203	4300	6503	SO:0001583	missense			AF216941	CCDS4914.1, CCDS47438.1, CCDS59022.1	6p12.3	2014-03-14			ENSG00000112782	ENSG00000112782	53405	53405		Ion channels / Chloride channels : Intracellular	13517	protein-coding gene	gene with protein product		607293			NA	10793131	Standard		NM_001114086	NA	Approved		uc003oxv.3	Q9NZA1	OTTHUMG00000014775	ENST00000185206.6:c.1147C>T	6.37:g.45870911G>A	ENSP00000185206:p.Arg383Cys	NA	B3KUF1|Q5T4Z0|Q96JT5|Q9BWZ0	37	CCDS47438.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.519403	0.64634	.	.	ENSG00000112782	ENST00000185206;ENST00000339561	D;D	0.95788	-3.81;-3.81	5.89	5.89	0.94794	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.052231	0.85682	D	0.000000	D	0.94225	0.8146	M	0.87547	2.89	0.80722	D	1	P;B	0.45715	0.865;0.195	B;B	0.39119	0.291;0.026	D	0.94849	0.8012	10	0.66056	D	0.02	.	14.1243	0.65210	0.0:0.0:0.7506:0.2494	.	383;224	Q9NZA1;Q53G01	CLIC5_HUMAN;.	C	383;224	ENSP00000185206:R383C;ENSP00000344165:R224C	ENSP00000185206:R383C	R	-	1	0	CLIC5	45978889	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	3.030000	0.49720	2.790000	0.95986	0.637000	0.83480	CGT	CLIC5-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040761.1		-	ENST00000185206.6	Missense_Mutation	SNP	6 : 45870911 - 45870911 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	61
PTDSS2	81490	broad.mit.edu	37	11	489663	489663	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:489663C>T	ENST00000308020.5	+	10	1221	c.1045C>T	c.(1045-1047)Ctg>Ttg	p.L349L		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	349						integral to membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	CCTGGTCCTCCTGCGGCTCGT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	46	48			NA	NA	11		NA											NA				489663		2199	4299	6498	SO:0001819	synonymous_variant			BC001210	CCDS7696.1	11p15	2008-05-02			ENSG00000174915	ENSG00000174915	81490	81490			15463	protein-coding gene	gene with protein product		612793			NA	14984733	Standard		NM_030783	NA	Approved	PSS2	uc001lpj.3	Q9BVG9	OTTHUMG00000119087	ENST00000308020.5:c.1045C>T	11.37:g.489663C>T		NA		37	CCDS7696.1																																																																																			PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239301.2		+	ENST00000308020.5	Silent	SNP	11 : 489663 - 489663 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	78	27
TMEM199	147007	broad.mit.edu	37	17	26695591	26695591	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26695591C>A	ENST00000509083.1	+	5	555				VTN_ENST00000536498.1_5'UTR|VTN_ENST00000226218.4_Silent_p.R310R|SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA			Q8N511	TM199_HUMAN	transmembrane protein 199	NA						integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CCCAGCTGTCCCGCTGCATCA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	85	87			NA	NA	17		NA											NA				26695591		2203	4300	6503	SO:0001627	intron_variant			AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045	147007	147007			18085	protein-coding gene	gene with protein product			chromosome 17 open reading frame 32	C17orf32	NA		Standard	NM_152464	NM_152464	NA	Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498	ENST00000509083.1:c.531+7721C>A	17.37:g.26695591C>A		NA		37																																																																																				TMEM199-201	KNOWN	basic|exp_conf	protein_coding	NA	protein_coding			+	ENST00000509083.1	Intron	SNP	17 : 26695591 - 26695591 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	389	93
NACC2	138151	broad.mit.edu	37	9	138905137	138905137	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138905137G>A	ENST00000371753.1	-	4	1221	c.1163C>T	c.(1162-1164)aCg>aTg	p.T388M	NACC2_ENST00000277554.2_Missense_Mutation_p.T388M			Q96BF6	NACC2_HUMAN	NACC family member 2, BEN and BTB (POZ) domain containing	388	BEN.				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization	nuclear body				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						GTTGGCCAGCGTGTTCCTGGT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	47	46			NA	NA	9		NA											NA				138905137		2202	4296	6498	SO:0001583	missense			BC015649	CCDS6993.1	9q34.3	2013-01-09	2008-10-03	2008-10-03	ENSG00000148411	ENSG00000148411	138151	138151		BEN domain containing, BTB/POZ domain containing	23846	protein-coding gene	gene with protein product	BEN domain containing 9	615786	BTB (POZ) domain containing 14A	BTBD14A	NA	12477932	Standard	NM_144653	NM_144653	NA	Approved	MGC23427, BEND9, BTBD31	uc004cgv.4	Q96BF6	OTTHUMG00000020921	ENST00000371753.1:c.1163C>T	9.37:g.138905137G>A	ENSP00000360818:p.Thr388Met	NA		37	CCDS6993.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600576	0.87055	.	.	ENSG00000148411	ENST00000371753;ENST00000277554	T;T	0.48201	0.82;0.82	5.65	5.65	0.86999	BEN domain (2);	0.000000	0.85682	D	0.000000	T	0.58004	0.2092	N	0.24115	0.695	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.61525	-0.7045	10	0.66056	D	0.02	.	18.7284	0.91724	0.0:0.0:1.0:0.0	.	388	Q96BF6	NACC2_HUMAN	M	388	ENSP00000360818:T388M;ENSP00000277554:T388M	ENSP00000277554:T388M	T	-	2	0	NACC2	138044958	1.000000	0.71417	0.983000	0.44433	0.540000	0.34992	9.618000	0.98365	2.670000	0.90874	0.655000	0.94253	ACG	NACC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055040.1		-	ENST00000371753.1	Missense_Mutation	SNP	9 : 138905137 - 138905137 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	459	83
GHRHR	2692	broad.mit.edu	37	7	31016139	31016139	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31016139G>A	ENST00000409904.3	+	8	1136	c.878G>A	c.(877-879)cGc>cAc	p.R293H	GHRHR_ENST00000409316.1_Silent_p.P123P|GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000326139.2_Missense_Mutation_p.R357H			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	357					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	CTGGGCATCCGCCTCCCCCTG	0.577		NA											g	1	5e-04	NA	NA	2184	0.0017	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9049	EXOME	NA	NA	3e-04	SNP								NA				0								G	HIS/ARG	0,4406		0,0,2203	48	42	44		1070	5.1	1	7		44	1,8599	1.2+/-3.3	0,1,4299	no	missense	GHRHR	NM_000823.3	29	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	357/424	31016139	1,13005	2203	4300	6503	SO:0001583	missense				CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128	2692	2692		GPCR / Class B : Glucagon receptors	4266	protein-coding gene	gene with protein product		139191			NA	7680413, 7514564	Standard		NM_000823	NA	Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000409904.3:c.878G>A	7.37:g.31016139G>A	ENSP00000387113:p.Arg293His	NA	Q99863	37		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	18.64	3.668179	0.67814	0.0	1.16E-4	ENSG00000106128	ENST00000326139;ENST00000409904	T;T	0.46451	0.87;0.87	5.05	5.05	0.67936	GPCR, family 2-like (1);	.	.	.	.	T	0.47525	0.1450	M	0.62088	1.915	0.80722	D	1	P;D	0.54964	0.856;0.969	B;P	0.46850	0.303;0.529	T	0.54344	-0.8308	9	0.87932	D	0	.	13.9875	0.64345	0.0:0.0:1.0:0.0	.	293;357	Q9HB45;Q02643	.;GHRHR_HUMAN	H	357;293	ENSP00000320180:R357H;ENSP00000387113:R293H	ENSP00000320180:R357H	R	+	2	0	GHRHR	30982664	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	7.069000	0.76755	2.346000	0.79739	0.546000	0.68486	CGC	GHRHR-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000328062.1		+	ENST00000409904.3	Missense_Mutation	SNP	7 : 31016139 - 31016139 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	148	28
GAS7	8522	broad.mit.edu	37	17	9821334	9821334	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9821334T>C	ENST00000323816.4	-	14	1283	c.1121A>G	c.(1120-1122)gAc>gGc	p.D374G	GAS7_ENST00000585266.1_Missense_Mutation_p.D374G|GAS7_ENST00000540214.1_Missense_Mutation_p.D139G|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000580865.1_Missense_Mutation_p.D294G|GAS7_ENST00000542249.1_Missense_Mutation_p.D370G|GAS7_ENST00000396115.2_Missense_Mutation_p.D139G|GAS7_ENST00000579158.1_Missense_Mutation_p.D370G|GAS7_ENST00000432992.2_Missense_Mutation_p.D434G|GAS7_ENST00000437099.2_Missense_Mutation_p.D370G			O60861	GAS7_HUMAN	growth arrest-specific 7	438					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GTTGAACATGTCTGTTTCATG	0.637		NA	T	MLL	AML*									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		17	17p	8522	growth arrest-specific 7		L	0													76	62	67			NA	NA	17		NA											NA				9821334		2203	4300	6503	SO:0001583	missense			AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18					8522	8522			4169	protein-coding gene	gene with protein product		603127			NA	9736752	Standard	NM_003644, NM_201432, NM_201433	NM_001130831	NA	Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000323816.4:c.1121A>G	17.37:g.9821334T>C	ENSP00000322608:p.Asp374Gly	NA	B2RCK9|O43144|Q53Y77|Q7Z571	37		.	.	.	.	.	.	.	.	.	.	T	28.4	4.920482	0.92249	.	.	ENSG00000007237	ENST00000323816;ENST00000396115;ENST00000437099;ENST00000432992;ENST00000540214;ENST00000537970;ENST00000542249;ENST00000541114	T;T	0.40476	1.03;1.03	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.47820	0.1466	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.67145	0.988;0.996;0.974;0.996	P;P;P;P	0.60541	0.761;0.876;0.669;0.876	T	0.36792	-0.9733	9	.	.	.	1.0203	14.3718	0.66846	0.0:0.0:0.0:1.0	.	386;374;294;434	B7Z2L1;A8KAC2;O60861-2;O60861	.;.;.;GAS7_HUMAN	G	434;374;373;294;139;374;83;248	ENSP00000379421:D374G;ENSP00000446214:D139G	.	D	-	2	0	GAS7	9762059	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	7.868000	0.87116	2.235000	0.73313	0.533000	0.62120	GAC	GAS7-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000439868.3		-	ENST00000323816.4	Missense_Mutation	SNP	17 : 9821334 - 9821334 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	262	46
ATP2A3	489	broad.mit.edu	37	17	3854899	3854899	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3854899G>A	ENST00000397041.3	-	4	427	c.300C>T	c.(298-300)gcC>gcT	p.A100A	ATP2A3_ENST00000352011.3_Silent_p.A100A|ATP2A3_ENST00000359983.3_Silent_p.A100A|ATP2A3_ENST00000397043.3_Silent_p.A100A|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397035.3_Silent_p.A100A|ATP2A3_ENST00000309890.7_Silent_p.A100A	NM_005173.3|NM_174957.2	NP_005164.2|NP_777617.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	100					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CAATGGCGTTGGCCACGAGGA	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(32;29 774 15719 37967)							NA				0													38	28	32			NA	NA	17		NA											NA				3854899		2200	4299	6499	SO:0001819	synonymous_variant				CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	489	489	3.6.3.8	ATPases / P-type	813	protein-coding gene	gene with protein product	sarcoplasmic/endoplasmic reticulum calcium ATPase 3, calcium pump 3	601929			NA	8809064	Standard	NM_174953	NM_005173	NA	Approved	SERCA3	uc002fwy.2	Q93084		ENST00000397041.3:c.300C>T	17.37:g.3854899G>A		NA	A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q8TEX5|Q8TEX6	37	CCDS45579.1																																																																																			ATP2A3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438394.1		-	ENST00000397041.3	Silent	SNP	17 : 3854899 - 3854899 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	115	22
CAPN11	11131	broad.mit.edu	37	6	44148732	44148732	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44148732G>A	ENST00000398776.1	+	18	1905	c.1867G>A	c.(1867-1869)Gat>Aat	p.D623N	CAPN11_ENST00000542245.1_Missense_Mutation_p.D623N	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	623	Domain IV.|EF-hand 1.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAACCTCATGGATGTATCCTC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													232	236	235			NA	NA	6		NA											NA				44148732		2045	4193	6238	SO:0001583	missense			AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225	11131	11131		EF-hand domain containing	1478	protein-coding gene	gene with protein product		604822			NA	10409436	Standard		NM_007058	NA	Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.1867G>A	6.37:g.44148732G>A	ENSP00000381758:p.Asp623Asn	NA	B2RA64|Q5T3G1|Q8N4R5	37	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	g	34	5.303276	0.95601	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	D;D	0.95949	-3.86;-3.86	5.01	5.01	0.66863	EF-hand-like domain (1);	0.000000	0.47455	D	0.000228	D	0.98896	0.9626	H	0.99169	4.455	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99383	1.0923	10	0.87932	D	0	.	17.4776	0.87664	0.0:0.0:1.0:0.0	.	277;623	B4DT90;Q9UMQ6	.;CAN11_HUMAN	N	623	ENSP00000381758:D623N;ENSP00000441078:D623N	ENSP00000381758:D623N	D	+	1	0	CAPN11	44256710	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	9.616000	0.98359	2.611000	0.88343	0.493000	0.49557	GAT	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040714.3		+	ENST00000398776.1	Missense_Mutation	SNP	6 : 44148732 - 44148732 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1187	217
PTPN23	25930	broad.mit.edu	37	3	47450720	47450720	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47450720C>T	ENST00000265562.4	+	17	1787	c.1710C>T	c.(1708-1710)cgC>cgT	p.R570R	PTPN23_ENST00000431726.1_Silent_p.R444R	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	570					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGACCAGCGCGTGTCCCTGG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	60	61			NA	NA	3		NA											NA				47450720		2203	4300	6503	SO:0001819	synonymous_variant			AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201	25930	25930		Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor	14406	protein-coding gene	gene with protein product		606584			NA	11095967	Standard	NM_015466	NM_015466	NA	Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.1710C>T	3.37:g.47450720C>T		NA	A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	37	CCDS2754.1																																																																																			PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257492.2		+	ENST00000265562.4	Silent	SNP	3 : 47450720 - 47450720 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	348	11
TTLL5	23093	broad.mit.edu	37	14	76135778	76135778	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76135778T>C	ENST00000557636.1	+	3	309	c.94T>C	c.(94-96)Tgg>Cgg	p.W32R	TTLL5_ENST00000298832.9_Missense_Mutation_p.W32R|TTLL5_ENST00000556977.1_Missense_Mutation_p.W32R|TTLL5_ENST00000286650.5_Missense_Mutation_p.W32R			Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	32					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		ATGCATCATGTGGACTGGAGG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													180	174	176			NA	NA	14		NA											NA				76135778		2203	4300	6503	SO:0001583	missense			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685	23093	23093		Tubulin tyrosine ligase-like family	19963	protein-coding gene	gene with protein product		612268	KIAA0998	KIAA0998	NA	15890843	Standard	NM_015072	NM_015072	NA	Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000557636.1:c.94T>C	14.37:g.76135778T>C	ENSP00000450713:p.Trp32Arg	NA	B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	37		.	.	.	.	.	.	.	.	.	.	T	19.25	3.792195	0.70452	.	.	ENSG00000119685	ENST00000557003;ENST00000556977;ENST00000557636;ENST00000286650;ENST00000298832	T;T;T	0.10763	2.84;3.06;3.32	5.39	5.39	0.77823	.	0.118493	0.64402	D	0.000006	T	0.30166	0.0756	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.80764	0.994;0.949;0.962	T	0.01386	-1.1368	10	0.54805	T	0.06	.	12.9317	0.58290	0.0:0.0:0.0:1.0	.	32;32;32	G3V2J9;Q6EMB2;Q6EMB2-3	.;TTLL5_HUMAN;.	R	32	ENSP00000450713:W32R;ENSP00000286650:W32R;ENSP00000298832:W32R	ENSP00000286650:W32R	W	+	1	0	TTLL5	75205531	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.832000	0.62759	2.039000	0.60335	0.383000	0.25322	TGG	TTLL5-016	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000414451.1		+	ENST00000557636.1	Missense_Mutation	SNP	14 : 76135778 - 76135778 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	686	29
DNM1	1759	broad.mit.edu	37	9	130984801	130984801	+	Missense_Mutation	SNP	G	G	A	rs148695604		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130984801G>A	ENST00000341179.7	+	8	1146	c.1054G>A	c.(1054-1056)Gac>Aac	p.D352N	DNM1_ENST00000475805.1_Missense_Mutation_p.D352N|DNM1_ENST00000372923.3_Missense_Mutation_p.D352N|DNM1_ENST00000393594.3_Missense_Mutation_p.D352N|DNM1_ENST00000486160.1_Missense_Mutation_p.D352N	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	352					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						AGATCAGATCGACACCTACGA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(113;146 1575 2722 28670 29921)							NA				0								G	ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	92	89	90		1054,1054	6	1	9	dbSNP_134	90	0,8600		0,0,4300	no	missense,missense	DNM1	NM_001005336.1,NM_004408.2	23,23	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging	352/852,352/865	130984801	1,13005	2203	4300	6503	SO:0001583	missense			L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976	1759	1759		Pleckstrin homology (PH) domain containing	2972	protein-coding gene	gene with protein product		602377		DNM	NA	2144893, 9143509	Standard	NM_004408	XM_005251763	NA	Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000341179.7:c.1054G>A	9.37:g.130984801G>A	ENSP00000345680:p.Asp352Asn	NA	A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	37	CCDS43882.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.028944	0.93518	2.27E-4	0.0	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160	T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63	6.03	6.03	0.97812	Dynamin central domain (1);	0.000000	0.85682	D	0.000000	T	0.70954	0.3283	N	0.19112	0.55	0.80722	D	1	D;P;D	0.67145	0.996;0.954;0.996	P;B;P	0.57009	0.767;0.441;0.811	T	0.65784	-0.6084	10	0.21540	T	0.41	-6.6582	20.5596	0.99324	0.0:0.0:1.0:0.0	.	352;352;352	Q05193;Q05193-3;Q05193-2	DYN1_HUMAN;.;.	N	352;352;352;347;352;352	ENSP00000419225:D352N;ENSP00000345680:D352N;ENSP00000362014:D352N;ENSP00000377219:D352N;ENSP00000420045:D352N	ENSP00000345680:D352N	D	+	1	0	DNM1	130024622	1.000000	0.71417	0.973000	0.42090	0.876000	0.50452	9.869000	0.99810	2.868000	0.98415	0.555000	0.69702	GAC	DNM1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355653.1		+	ENST00000341179.7	Missense_Mutation	SNP	9 : 130984801 - 130984801 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	538	77
DHRS13	147015	broad.mit.edu	37	17	27225599	27225599	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27225599C>T	ENST00000394901.3	-	4	1236	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	RP11-20B24.4_ENST00000579187.1_RNA|RP11-20B24.4_ENST00000580603.1_RNA|DHRS13_ENST00000426464.2_Missense_Mutation_p.A251T|DHRS13_ENST00000378895.4_Missense_Mutation_p.A332T			Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	332						extracellular region	binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			GAAGATGGGGCCTCTGAGTCC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	28	27			NA	NA	17		NA											NA				27225599		2203	4300	6503	SO:0001583	missense			BC015582	CCDS11246.2	17q11.2	2011-09-14			ENSG00000167536	ENSG00000167536	147015	147015	1.1.-.-	Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2	28326	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 7C, member 5				NA	12975309, 19027726	Standard	NM_144683	NM_144683	NA	Approved	MGC23280, SDR7C5	uc002hde.4	Q6UX07	OTTHUMG00000132678	ENST00000394901.3:c.844G>A	17.37:g.27225599C>T	ENSP00000378361:p.Ala282Thr	NA	Q96BH7	37		.	.	.	.	.	.	.	.	.	.	C	8.772	0.926259	0.18056	.	.	ENSG00000167536	ENST00000378895;ENST00000394901;ENST00000426464	T;T;D	0.82893	-1.45;-0.98;-1.66	4.99	-1.04	0.10068	.	0.990667	0.08205	N	0.981575	T	0.66886	0.2835	N	0.24115	0.695	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.0	T	0.48592	-0.9022	10	0.22706	T	0.39	.	4.0285	0.09698	0.1651:0.439:0.0:0.3959	.	251;332	B4DJC5;Q6UX07	.;DHR13_HUMAN	T	332;282;251	ENSP00000368173:A332T;ENSP00000378361:A282T;ENSP00000412826:A251T	ENSP00000368173:A332T	A	-	1	0	DHRS13	24249725	0.001000	0.12720	0.252000	0.24328	0.120000	0.20174	-0.826000	0.04429	-0.020000	0.14032	0.561000	0.74099	GCC	DHRS13-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000255953.1		-	ENST00000394901.3	Missense_Mutation	SNP	17 : 27225599 - 27225599 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	112	21
LNX1	84708	broad.mit.edu	37	4	54343147	54343147	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54343147A>G	ENST00000306888.2	-	8	1628	c.1377T>C	c.(1375-1377)ggT>ggC	p.G459G	LNX1_ENST00000263925.7_Splice_Site_p.G555G|FIP1L1_ENST00000507166.1_Intron	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	555	PDZ 2.					cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ACAAAATGTCACCTGATGGCC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	103	103			NA	NA	4		NA											NA				54343147		2203	4300	6503	SO:0001630	splice_region_variant			AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201	84708	84708		RING-type (C3HC4) zinc fingers	6657	protein-coding gene	gene with protein product		609732	ligand of numb-protein X, ligand of numb-protein X 1	LNX	NA	11521506, 11782429	Standard		NM_032622	NA	Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000306888.2:c.1376-1T>C	4.37:g.54343147A>G		NA	Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	37	CCDS3492.1																																																																																			LNX1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219935.2	Silent	-	ENST00000306888.2	Splice_Site	SNP	4 : 54343147 - 54343147 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	593	111
TTC18	0	broad.mit.edu	37	10	75107993	75107993	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75107993C>A	ENST00000340329.3	-	5	453	c.350G>T	c.(349-351)gGa>gTa	p.G117V	TTC18_ENST00000394865.1_Splice_Site_p.G117V|TTC18_ENST00000493787.1_Intron|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000310715.3_Splice_Site_p.G117V|TTC18_ENST00000401621.2_Splice_Site_p.G117V			Q5T0N1	TTC18_HUMAN		117				G -> V (in Ref. 1; CAH10391).			binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TGAACTCTGTCCTGCAAAAAG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	83	85			NA	NA	10		NA											NA				75107993		2203	4300	6503	SO:0001630	splice_region_variant											NA	NA			NA							NA					NA						ENST00000340329.3:c.350-1G>T	10.37:g.75107993C>A		NA	C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	37		.	.	.	.	.	.	.	.	.	.	C	21.3	4.130417	0.77549	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000340329;ENST00000372928;ENST00000394865	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.61565	0.2357	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65483	-0.6157	10	0.87932	D	0	.	16.521	0.84317	0.0:1.0:0.0:0.0	.	117	Q5T0N1	TTC18_HUMAN	V	117	ENSP00000310829:G117V;ENSP00000384479:G117V;ENSP00000343650:G117V;ENSP00000378334:G117V	ENSP00000310829:G117V	G	-	2	0	TTC18	74777999	1.000000	0.71417	0.908000	0.35775	0.956000	0.61745	4.991000	0.63883	2.479000	0.83701	0.557000	0.71058	GGA	TTC18-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000048628.1	Missense_Mutation	-	ENST00000340329.3	Splice_Site	SNP	10 : 75107993 - 75107993 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	364	63
ATG2A	23130	broad.mit.edu	37	11	64669563	64669563	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64669563G>A	ENST00000377264.3	-	29	4102	c.3990C>T	c.(3988-3990)gtC>gtT	p.V1330V	ATG2A_ENST00000421419.2_Silent_p.V1332V	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1330							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CAGGGCCCCCGACAGGTGGTG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	92	90			NA	NA	11		NA											NA				64669563		2201	4297	6498	SO:0001819	synonymous_variant				CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046	23130	23130			29028	protein-coding gene	gene with protein product			ATG2 autophagy related 2 homolog A (S. cerevisiae)		NA	21887408	Standard	NM_015104	NM_015104	NA	Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.3990C>T	11.37:g.64669563G>A		NA	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	37	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.455658	0.01071	.	.	ENSG00000110046	ENST00000418259	.	.	.	4.39	-3.62	0.04543	.	.	.	.	.	T	0.27489	0.0675	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32613	-0.9900	4	.	.	.	.	6.4286	0.21784	0.4439:0.1355:0.4205:0.0	.	.	.	.	W	1134	.	.	R	-	1	2	ATG2A	64426139	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.304000	0.08199	-0.686000	0.05170	0.563000	0.77884	CGG	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000143224.1		-	ENST00000377264.3	Silent	SNP	11 : 64669563 - 64669563 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	721	128
TOPBP1	11073	broad.mit.edu	37	3	133341974	133341974	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133341974C>T	ENST00000260810.5	-	19	3270	c.3139G>A	c.(3139-3141)Gca>Aca	p.A1047T		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1047					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TTTGATGGTGCTGACTCTTTA	0.274		NA						Other conserved DNA damage response genes						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(21;193 658 4424 15423 17362)							NA				0													43	39	40			NA	NA	3		NA											NA				133341974		1803	4060	5863	SO:0001583	missense			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781	11073	11073			17008	protein-coding gene	gene with protein product		607760			NA	9461304, 9039502	Standard	NM_007027	NM_007027	NA	Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.3139G>A	3.37:g.133341974C>T	ENSP00000260810:p.Ala1047Thr	NA	B7Z7W8|Q7LGC1|Q9UEB9	37	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	C	0.731	-0.779765	0.02929	.	.	ENSG00000163781	ENST00000260810	T	0.11495	2.77	5.6	2.83	0.33086	.	0.688503	0.15591	N	0.254401	T	0.08537	0.0212	L	0.47716	1.5	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.43718	-0.9374	10	0.12430	T	0.62	.	6.0027	0.19529	0.0:0.6363:0.1375:0.2262	.	960;1047	A0AV47;Q92547	.;TOPB1_HUMAN	T	1047	ENSP00000260810:A1047T	ENSP00000260810:A1047T	A	-	1	0	TOPBP1	134824664	0.000000	0.05858	0.014000	0.15608	0.030000	0.12068	0.298000	0.19120	0.300000	0.22699	0.650000	0.86243	GCA	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357254.1		-	ENST00000260810.5	Missense_Mutation	SNP	3 : 133341974 - 133341974 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	239	27
OBSL1	23363	broad.mit.edu	37	2	220419272	220419272	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220419272G>A	ENST00000404537.1	-	15	4856	c.4800C>T	c.(4798-4800)ggC>ggT	p.G1600G	OBSL1_ENST00000373876.1_Silent_p.G1508G|OBSL1_ENST00000265318.4_3'UTR	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1600					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				NA		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCAGGCCCAGGCCATTGAGTA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	46	42			NA	NA	2		NA											NA				220419272		2129	4223	6352	SO:0001819	synonymous_variant			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006	23363	23363		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	29092	protein-coding gene	gene with protein product		610991			NA	9734811	Standard		NM_015311	NA	Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.4800C>T	2.37:g.220419272G>A		NA	A4KVA5|Q96IW3	37	CCDS46520.1																																																																																			OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322012.1		-	ENST00000404537.1	Silent	SNP	2 : 220419272 - 220419272 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	245	10
PALM2	114299	broad.mit.edu	37	9	112705591	112705591	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112705591G>A	ENST00000374531.2	+	7	1100	c.1026G>A	c.(1024-1026)ccG>ccA	p.P342P	PALM2-AKAP2_ENST00000302798.7_Intron|PALM2-AKAP2_ENST00000374530.3_Intron|PALM2_ENST00000483909.1_Silent_p.P340P|AKAP2_ENST00000510514.5_Intron|AKAP2_ENST00000555236.1_Intron|PALM2_ENST00000448454.2_Silent_p.P376P|PALM2_ENST00000314527.4_Silent_p.P374P	NM_001037293.2	NP_001032370.1			paralemmin 2	NA										breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						CCGGGAGGCCGGTCTCAGACA	0.547		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	120	118	118		1026,,1122,	-11.7	0	9		118	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron,coding-synonymous,intron	PALM2,PALM2-AKAP2	NM_001037293.2,NM_007203.4,NM_053016.5,NM_147150.2	,,,	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	,,,	342/380,,374/412,	112705591	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444	114299	114299			15845	protein-coding gene	gene with protein product					NA	11478809	Standard	NM_001037293	NM_001037293	NA	Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.1026G>A	9.37:g.112705591G>A		NA		37	CCDS35099.1																																																																																			PALM2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053604.1		+	ENST00000374531.2	Silent	SNP	9 : 112705591 - 112705591 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	497	100
ARF1	375	broad.mit.edu	37	1	228285130	228285130	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228285130G>A	ENST00000541182.1	+	3	498	c.236G>A	c.(235-237)cGc>cAc	p.R79H	ARF1_ENST00000478424.1_3'UTR|ARF1_ENST00000272102.5_Missense_Mutation_p.R79H|ARF1_ENST00000540651.1_Missense_Mutation_p.R79H	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	79					cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				CCCCTGTGGCGCCACTACTTC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	71	71			NA	NA	1		NA											NA				228285130		2203	4300	6503	SO:0001583	missense			M84326	CCDS1565.1	1q42.13	2014-01-30			ENSG00000143761	ENSG00000143761	375	375		ADP-ribosylation factors, Endogenous ligands	652	protein-coding gene	gene with protein product		103180			NA	1577740	Standard	NM_001024227	NM_001658	NA	Approved		uc001hrr.3	P84077	OTTHUMG00000037595	ENST00000541182.1:c.236G>A	1.37:g.228285130G>A	ENSP00000440005:p.Arg79His	NA	P10947|P32889	37	CCDS1565.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999806	0.54147	.	.	ENSG00000143761	ENST00000272102;ENST00000540651;ENST00000542941;ENST00000541182	T;T;T	0.66638	-0.22;-0.22;-0.22	5.39	3.49	0.39957	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000010	T	0.70360	0.3215	M	0.89601	3.045	0.80722	D	1	B	0.29162	0.235	B	0.23716	0.048	T	0.75772	-0.3200	10	0.87932	D	0	-13.7481	12.3362	0.55069	0.1392:0.0:0.8608:0.0	.	79	P84077	ARF1_HUMAN	H	79	ENSP00000272102:R79H;ENSP00000442980:R79H;ENSP00000440005:R79H	ENSP00000272102:R79H	R	+	2	0	ARF1	226351753	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.575000	0.98187	1.521000	0.48983	-0.373000	0.07131	CGC	ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091650.1		+	ENST00000541182.1	Missense_Mutation	SNP	1 : 228285130 - 228285130 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	600	56
DCP1B	196513	broad.mit.edu	37	12	2062369	2062369	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2062369G>T	ENST00000540622.1	-	4	417	c.359C>A	c.(358-360)cCt>cAt	p.P120H	DCP1B_ENST00000397173.4_Missense_Mutation_p.P144H|DCP1B_ENST00000280665.6_Missense_Mutation_p.P246H|DCP1B_ENST00000541700.1_5'UTR			Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	246					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			AGTCTGCGGAGGCTCCACAGT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	48	46			NA	NA	12		NA											NA				2062369		2203	4300	6503	SO:0001583	missense			AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065	196513	196513			24451	protein-coding gene	gene with protein product		609843	DCP1 decapping enzyme homolog B (S. cerevisiae)		NA	12417715, 15067023	Standard	NM_152640	NM_152640	NA	Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000540622.1:c.359C>A	12.37:g.2062369G>T	ENSP00000444374:p.Pro120His	NA	Q86XH9|Q96BP8|Q96MZ8	37		.	.	.	.	.	.	.	.	.	.	G	10.36	1.329106	0.24167	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.23147	2.01;1.99;1.92	4.93	-0.695	0.11291	.	0.896531	0.09811	N	0.752777	T	0.13072	0.0317	N	0.21448	0.665	0.09310	N	1	B;B	0.17038	0.003;0.02	B;B	0.16722	0.005;0.016	T	0.31696	-0.9934	10	0.31617	T	0.26	-0.0327	1.402	0.02273	0.2313:0.1138:0.3995:0.2554	.	144;246	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	H	246;144;120	ENSP00000280665:P246H;ENSP00000380358:P144H;ENSP00000444374:P120H	ENSP00000280665:P246H	P	-	2	0	DCP1B	1932630	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	0.047000	0.14056	0.012000	0.14892	0.650000	0.86243	CCT	DCP1B-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000398246.1		-	ENST00000540622.1	Missense_Mutation	SNP	12 : 2062369 - 2062369 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	62
ERN2	10595	broad.mit.edu	37	16	23702279	23702279	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23702279C>T	ENST00000457008.2	-	21	2536	c.2498G>A	c.(2497-2499)cGc>cAc	p.R833H	ERN2_ENST00000256797.4_Missense_Mutation_p.R933H			Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	885	KEN.			T -> I (in Ref. 1; BAB21297).	apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CCGTGGGAAGCGGTTTGTGAA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	74	75			NA	NA	16		NA											NA				23702279		2197	4300	6497	SO:0001583	missense			AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398	10595	10595			16942	protein-coding gene	gene with protein product		604034	ER to nucleus signalling 2		NA	9755171, 11175748	Standard		NM_033266	NA	Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.2498G>A	16.37:g.23702279C>T	ENSP00000413812:p.Arg833His	NA	Q6ZNC0	37		.	.	.	.	.	.	.	.	.	.	C	21.5	4.165707	0.78339	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.37752	1.18;1.18	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.72534	0.3472	H	0.95884	3.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.82059	-0.0645	10	0.87932	D	0	.	16.6239	0.84937	0.0:1.0:0.0:0.0	.	833;885	E7ETG2;A5YM65	.;.	H	933;833	ENSP00000256797:R933H;ENSP00000413812:R833H	ENSP00000256797:R933H	R	-	2	0	ERN2	23609780	1.000000	0.71417	0.991000	0.47740	0.200000	0.23975	5.911000	0.69939	2.594000	0.87642	0.561000	0.74099	CGC	ERN2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000434886.1		-	ENST00000457008.2	Missense_Mutation	SNP	16 : 23702279 - 23702279 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	352	31
DBF4B	80174	broad.mit.edu	37	17	42800334	42800334	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42800334C>A	ENST00000315005.3	+	3	307	c.169C>A	c.(169-171)Ctg>Atg	p.L57M	DBF4B_ENST00000526915.1_3'UTR|DBF4B_ENST00000393547.2_Missense_Mutation_p.L57M|DBF4B_ENST00000398338.3_Missense_Mutation_p.L57M	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	57	BRCT.				cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				TTACTTGGATCTGCCTGCTGG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	84	85			NA	NA	17		NA											NA				42800334		2203	4300	6503	SO:0001583	missense			AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692	80174	80174		Zinc fingers, DBF-type	17883	protein-coding gene	gene with protein product	chiffon homolog B (Drosophila), zinc finger, DBF-type containing 1B	611661	DBF4 homolog B (S. cerevisiae)		NA	15668232	Standard	NM_025104	NM_145663	NA	Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.169C>A	17.37:g.42800334C>A	ENSP00000323663:p.Leu57Met	NA	D3DX56|Q8TEX0|Q96B19|Q9H912	37	CCDS11485.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.617235	0.66672	.	.	ENSG00000161692	ENST00000393547;ENST00000439818;ENST00000398338;ENST00000315005;ENST00000525011	T;T;T	0.11169	2.8;2.8;2.8	3.94	3.94	0.45596	.	0.183972	0.25327	U	0.031462	T	0.29817	0.0745	M	0.73962	2.25	0.26725	N	0.970697	D;D;D;D	0.71674	0.994;0.998;0.989;0.998	P;D;P;D	0.71656	0.906;0.962;0.862;0.974	T	0.02437	-1.1159	10	0.59425	D	0.04	-9.6037	11.6941	0.51534	0.0:1.0:0.0:0.0	.	57;41;57;57	Q8NFT6-2;B4DHW6;Q8NFT6;Q8NFT6-4	.;.;DBF4B_HUMAN;.	M	57;57;57;57;41	ENSP00000377178:L57M;ENSP00000381381:L57M;ENSP00000323663:L57M	ENSP00000323663:L57M	L	+	1	2	DBF4B	40155860	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	2.100000	0.41777	2.208000	0.71279	0.555000	0.69702	CTG	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385930.1		+	ENST00000315005.3	Missense_Mutation	SNP	17 : 42800334 - 42800334 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	430	79
IL2RB	3560	broad.mit.edu	37	22	37524621	37524621	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37524621C>T	ENST00000216223.5	-	10	1369	c.1171G>A	c.(1171-1173)Gac>Aac	p.D391N		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	391			D -> E (in dbSNP:rs228942).		interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TCATCAGGGTCTTCCTCTGAG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	60	59			NA	NA	22		NA											NA				37524621		2203	4300	6503	SO:0001583	missense			M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385	NA	3560		Interleukins and interleukin receptors, CD molecules	6009	protein-coding gene	gene with protein product		146710	interleukin 15 receptor, beta	IL15RB	NA		Standard		NM_000878	NA	Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.1171G>A	22.37:g.37524621C>T	ENSP00000216223:p.Asp391Asn	NA	B2R765	37	CCDS13942.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023888	0.54683	.	.	ENSG00000100385	ENST00000216223	T	0.08546	3.08	4.28	4.28	0.50868	.	1.830200	0.02534	N	0.093949	T	0.08358	0.0208	N	0.14661	0.345	0.23095	N	0.998308	B	0.24721	0.11	B	0.24848	0.056	T	0.29549	-1.0008	10	0.25751	T	0.34	-6.2193	14.3549	0.66730	0.0:1.0:0.0:0.0	.	391	P14784	IL2RB_HUMAN	N	391	ENSP00000216223:D391N	ENSP00000216223:D391N	D	-	1	0	IL2RB	35854567	0.819000	0.29175	0.385000	0.26158	0.003000	0.03518	1.468000	0.35332	2.349000	0.79799	0.655000	0.94253	GAC	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318792.1		-	ENST00000216223.5	Missense_Mutation	SNP	22 : 37524621 - 37524621 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	428	98
HSF4	3299	broad.mit.edu	37	16	67199722	67199722	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67199722G>A	ENST00000584272.1	+	3	333	c.333G>A	c.(331-333)gaG>gaA	p.E111E	HSF4_ENST00000264009.8_Silent_p.E111E|HSF4_ENST00000421453.1_Silent_p.E111E|HSF4_ENST00000521374.1_Silent_p.E111E			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	111					response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GCGGCCGCGAGCAGCTACTGG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													10	14	13			NA	NA	16		NA											NA				67199722		1880	3957	5837	SO:0001819	synonymous_variant			D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878	3299	3299			5227	protein-coding gene	gene with protein product		602438	cataract, Marner	CTM	NA	8972228, 10488131, 12089525	Standard	NM_001538	NM_001538	NA	Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000584272.1:c.333G>A	16.37:g.67199722G>A		NA	Q99472|Q9ULV6	37	CCDS45510.1																																																																																			HSF4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375068.1		+	ENST00000584272.1	Silent	SNP	16 : 67199722 - 67199722 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	175	27
TAF1L	138474	broad.mit.edu	37	9	32634136	32634136	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32634136T>C	ENST00000242310.4	-	1	1531	c.1442A>G	c.(1441-1443)aAa>aGa	p.K481R	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	481					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GTACCAAGGTTTGTCATCATC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													193	167	176			NA	NA	9		NA											NA				32634136		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.1442A>G	9.37:g.32634136T>C	ENSP00000418379:p.Lys481Arg	NA	Q0VG57	37	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.224170	0.39300	.	.	ENSG00000122728	ENST00000242310	T	0.08282	3.11	0.479	0.479	0.16796	.	0.270402	0.37095	N	0.002249	T	0.04272	0.0118	N	0.19112	0.55	0.23232	N	0.998077	B	0.11235	0.004	B	0.10450	0.005	T	0.32561	-0.9902	10	0.48119	T	0.1	.	2.6827	0.05099	0.0:0.3869:0.0:0.6131	.	481	Q8IZX4	TAF1L_HUMAN	R	481	ENSP00000418379:K481R	ENSP00000418379:K481R	K	-	2	0	TAF1L	32624136	0.969000	0.33509	0.987000	0.45799	0.502000	0.33828	0.533000	0.23082	0.426000	0.26116	0.164000	0.16699	AAA	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052012.2		-	ENST00000242310.4	Missense_Mutation	SNP	9 : 32634136 - 32634136 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	685	130
TRIM8	81603	broad.mit.edu	37	10	104416127	104416127	+	Missense_Mutation	SNP	C	C	T	rs145135383		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104416127C>T	ENST00000302424.7	+	5	1155	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	NA						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GAAGCAGCTGCGGAAAATGCT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TRP/ARG	0,4406		0,0,2203	41	33	36		1033	3.4	1	10	dbSNP_134	36	1,8599	1.2+/-3.3	0,1,4299	no	missense	TRIM8	NM_030912.2	101	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	345/552	104416127	1,13005	2203	4300	6503	SO:0001583	missense			AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206	81603	81603		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	15579	protein-coding gene	gene with protein product	glioblastoma expressed ring finger protein	606125	ring finger protein 27, tripartite motif-containing 8	RNF27	NA	11118312, 12163497	Standard	NM_030912	NM_030912	NA	Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.1033C>T	10.37:g.104416127C>T	ENSP00000302120:p.Arg345Trp	NA	A6NI31|Q9C028	37	CCDS31274.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842550	0.71488	0.0	1.16E-4	ENSG00000171206	ENST00000302424;ENST00000369896	T	0.79653	-1.29	5.41	3.37	0.38596	.	0.104805	0.64402	D	0.000004	T	0.75961	0.3921	N	0.24115	0.695	0.46185	D	0.998918	D	0.69078	0.997	P	0.50378	0.639	T	0.79806	-0.1648	10	0.66056	D	0.02	.	14.8214	0.70077	0.3272:0.6728:0.0:0.0	.	345	Q9BZR9	TRIM8_HUMAN	W	345;344	ENSP00000302120:R345W	ENSP00000302120:R345W	R	+	1	2	TRIM8	104406117	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.883000	0.28200	1.259000	0.44117	0.561000	0.74099	CGG	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050084.3		+	ENST00000302424.7	Missense_Mutation	SNP	10 : 104416127 - 104416127 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	130	25
NDNL2	56160	broad.mit.edu	37	15	29561540	29561540	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:29561540G>A	ENST00000332303.4	-	1	493	c.370C>T	c.(370-372)Ccc>Tcc	p.P124S	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	124	MAGE.				regulation of growth	cytoplasm|nucleus				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AAGAGGTCGGGGAAGATGTCC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	86	87			NA	NA	15		NA											NA				29561540		2203	4300	6503	SO:0001583	missense			AF490510	CCDS10023.1	15q13.1	2008-02-01			ENSG00000185115	ENSG00000185115	56160	56160			7677	protein-coding gene	gene with protein product		608243			NA	18086888	Standard	NM_138704	NM_138704	NA	Approved	HCA4, MAGEG1, MAGEL3, NSE3, NSMCE3	uc001zco.3	Q96MG7	OTTHUMG00000129261	ENST00000332303.4:c.370C>T	15.37:g.29561540G>A	ENSP00000330694:p.Pro124Ser	NA	Q8IW16|Q8TEI6|Q9H214	37	CCDS10023.1	.	.	.	.	.	.	.	.	.	.	G	8.329	0.826058	0.16749	.	.	ENSG00000185115	ENST00000332303	T	0.05199	3.48	3.8	0.771	0.18504	.	0.307886	0.30704	U	0.009044	T	0.10508	0.0257	L	0.59436	1.845	0.09310	N	0.999996	P	0.41498	0.752	P	0.51016	0.656	T	0.09164	-1.0687	10	0.48119	T	0.1	.	3.9345	0.09299	0.2245:0.1991:0.5764:0.0	.	124	Q96MG7	MAGG1_HUMAN	S	124	ENSP00000330694:P124S	ENSP00000330694:P124S	P	-	1	0	NDNL2	27348832	0.785000	0.28726	0.005000	0.12908	0.255000	0.26057	0.330000	0.19715	0.169000	0.19679	-0.251000	0.11542	CCC	NDNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251370.1		-	ENST00000332303.4	Missense_Mutation	SNP	15 : 29561540 - 29561540 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	618	94
QPCT	25797	broad.mit.edu	37	2	37586768	37586768	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37586768G>A	ENST00000338415.3	+	3	471	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	QPCT_ENST00000537448.1_Missense_Mutation_p.E56K	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	105					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				CTGGGTCTTGGAAATAGACAC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	72	76			NA	NA	2		NA											NA				37586768		2203	4300	6503	SO:0001583	missense			X71125	CCDS1790.1	2p22	2008-07-31	2008-07-31		ENSG00000115828	ENSG00000115828	25797	25797	2.3.2.5		9753	protein-coding gene	gene with protein product	glutaminyl cyclase	607065			NA	7999256	Standard		NM_012413	NA	Approved	QC, GCT	uc002rqg.3	Q16769	OTTHUMG00000100963	ENST00000338415.3:c.313G>A	2.37:g.37586768G>A	ENSP00000344829:p.Glu105Lys	NA	Q16770|Q3KRG6	37	CCDS1790.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445183	0.83993	.	.	ENSG00000115828	ENST00000338415;ENST00000404976;ENST00000537448	T;T;T	0.28255	1.62;1.62;1.62	5.53	5.53	0.82687	.	0.098347	0.64402	D	0.000001	T	0.57344	0.2047	M	0.85462	2.755	0.80722	D	1	D;D	0.64830	0.969;0.994	P;P	0.57152	0.561;0.814	T	0.64019	-0.6505	10	0.66056	D	0.02	-11.9925	19.4608	0.94916	0.0:0.0:1.0:0.0	.	56;105	Q16769-2;Q16769	.;QPCT_HUMAN	K	105;56;56	ENSP00000344829:E105K;ENSP00000385391:E56K;ENSP00000441606:E56K	ENSP00000344829:E105K	E	+	1	0	QPCT	37440272	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.119000	0.71590	2.587000	0.87381	0.655000	0.94253	GAA	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000218572.2		+	ENST00000338415.3	Missense_Mutation	SNP	2 : 37586768 - 37586768 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	480	83
ZNF695	57116	broad.mit.edu	37	1	247163304	247163304	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247163304G>A	ENST00000339986.7	-	2	223	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	ZNF695_ENST00000487338.2_Missense_Mutation_p.R26W|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	26	KRAB.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TACAAACTCCGCTGAGCTGGG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	74	72			NA	NA	1		NA											NA				247163304		2195	4293	6488	SO:0001583	missense				CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472	57116	57116		Zinc fingers, C2H2-type, -	30954	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_020394	NM_020394	NA	Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.76C>T	1.37:g.247163304G>A	ENSP00000341236:p.Arg26Trp	NA	Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	37	CCDS44344.1	.	.	.	.	.	.	.	.	.	.	G	6.165	0.398650	0.11696	.	.	ENSG00000197472	ENST00000487338;ENST00000391780;ENST00000339986	T;T	0.03004	4.08;4.08	0.588	-1.18	0.09617	Krueppel-associated box (4);	.	.	.	.	T	0.15046	0.0363	M	0.86864	2.845	0.21386	N	0.999701	D;D;B	0.76494	0.999;0.995;0.169	D;P;B	0.69654	0.965;0.863;0.01	T	0.04693	-1.0933	8	0.72032	D	0.01	.	.	.	.	.	26;26;26	Q8IW36;F2Z2N8;Q8IW36-1	ZN695_HUMAN;.;.	W	26	ENSP00000429736:R26W;ENSP00000341236:R26W	ENSP00000428213:R26W	R	-	1	2	ZNF695	245229927	0.200000	0.23398	0.488000	0.27440	0.029000	0.11900	0.703000	0.25646	-0.583000	0.05921	0.195000	0.17529	CGG	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097823.5		-	ENST00000339986.7	Missense_Mutation	SNP	1 : 247163304 - 247163304 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	462	121
RBFOX1	54715	broad.mit.edu	37	16	7703845	7703845	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:7703845C>A	ENST00000552089.1	+	10	951	c.837C>A	c.(835-837)acC>acA	p.T279T	RBFOX1_ENST00000311745.5_Silent_p.T282T|RBFOX1_ENST00000550418.1_Silent_p.T262T|RBFOX1_ENST00000547372.1_Silent_p.T305T|RBFOX1_ENST00000340209.4_Silent_p.T267T|RBFOX1_ENST00000436368.2_Silent_p.T282T|RBFOX1_ENST00000355637.4_Silent_p.T282T|RBFOX1_ENST00000553186.1_Silent_p.T235T|RBFOX1_ENST00000535565.2_Silent_p.T219T|RBFOX1_ENST00000547338.1_Silent_p.T262T|RBFOX1_ENST00000422070.4_Silent_p.T305T			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	262					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	p.T282T(2)|p.T262T(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CAGCAGCCACCGCCGCGGCCG	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(157;934 2567 15163 39509)							NA				3	Substitution - coding silent(3)	lung(3)											15	19	18			NA	NA	16		NA											NA				7703845		1725	3657	5382	SO:0001819	synonymous_variant			AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328	54715	54715		RNA binding motif (RRM) containing	18222	protein-coding gene	gene with protein product	ataxin 2-binding protein 1, hexaribonucleotide binding protein 1	605104			NA	10814712, 16260614	Standard	NM_145891	NM_018723	NA	Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000552089.1:c.837C>A	16.37:g.7703845C>A		NA	Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	37																																																																																				RBFOX1-006	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000409496.1		+	ENST00000552089.1	Silent	SNP	16 : 7703845 - 7703845 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	375	75
SIPA1L3	23094	broad.mit.edu	37	19	38572967	38572967	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38572967C>T	ENST00000222345.6	+	3	1271	c.762C>T	c.(760-762)ggC>ggT	p.G254G		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	254					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGGGGGGCGGCGGCGGAGCCA	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													10	12	11			NA	NA	19		NA											NA				38572967		1890	3777	5667	SO:0001819	synonymous_variant			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738	23094	23094			23801	protein-coding gene	gene with protein product					NA		Standard	XM_032278	XM_005258671	NA	Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.762C>T	19.37:g.38572967C>T		NA	Q2TV87	37	CCDS33007.1																																																																																			SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000156294.2		+	ENST00000222345.6	Silent	SNP	19 : 38572967 - 38572967 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	187	50
DIO3	1735	broad.mit.edu	37	14	102028103	102028103	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102028103C>T	ENST00000510508.4	+	1	416	c.270C>T	c.(268-270)ggC>ggT	p.G90G	DIO3_ENST00000359323.3_Silent_p.G64G			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	64					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				ACAGTGAAGGCGAGGAGGTGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	48	47			NA	NA	14		NA											NA				102028103		1976	4126	6102	SO:0001819	synonymous_variant			S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406	1735	1735			2885	protein-coding gene	gene with protein product		601038		TXDI3	NA	9787088, 7593630	Standard	NM_001362	NM_001362	NA	Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.270C>T	14.37:g.102028103C>T		NA	Q8WVN5	37	CCDS41992.2																																																																																			DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	NA	protein_coding	OTTHUMT00000361712.4		+	ENST00000510508.4	Silent	SNP	14 : 102028103 - 102028103 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	569	79
PTCHD2	57540	broad.mit.edu	37	1	11561811	11561811	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11561811G>A	ENST00000294484.6	+	2	900	c.762G>A	c.(760-762)tcG>tcA	p.S254S	PTCHD2_ENST00000389575.3_Silent_p.S254S	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	254					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GAGGCGCCTCGCGCTGGGACT	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													8	9	8			NA	NA	1		NA											NA				11561811		1929	4106	6035	SO:0001819	synonymous_variant			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624	57540	57540			29251	protein-coding gene	gene with protein product		611251			NA	15738394	Standard	XM_052561	NM_020780	NA	Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.762G>A	1.37:g.11561811G>A		NA	Q5VTU9|Q9UJD6	37	CCDS41247.1																																																																																			PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005770.2		+	ENST00000294484.6	Silent	SNP	1 : 11561811 - 11561811 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	81	10
MSH6	2956	broad.mit.edu	37	2	48030670	48030670	+	Missense_Mutation	SNP	G	G	A	rs63750253		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48030670G>A	ENST00000234420.5	+	5	3436	c.3284G>A	c.(3283-3285)cGc>cAc	p.R1095H	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Missense_Mutation_p.R965H|MSH6_ENST00000538136.1_Missense_Mutation_p.R793H	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	NA			R -> H (in CRC; uncertain pathogenicity).		determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)|p.R1095H(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAAGGATCACGCCATCCTTGC	0.458		NA	Mis, N, F, S		colorectal	colorectal, endometrial, ovarian		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	4	Substitution - Missense(2)|Whole gene deletion(2)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(2)	GRCh37	CM030237	MSH6	M	rs63750253						135	118	124			NA	NA	2		NA											NA				48030670		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062	2956	2956			7329	protein-coding gene	gene with protein product		600678	mutS (E. coli) homolog 6, mutS homolog 6 (E. coli)	GTBP	NA	7604266	Standard	NM_000179	NM_000179	NA	Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.3284G>A	2.37:g.48030670G>A	ENSP00000234420:p.Arg1095His	NA	O43706|O43917|Q8TCX4|Q9BTB5	37	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804382	0.90623	.	.	ENSG00000116062	ENST00000234420;ENST00000543270;ENST00000540021;ENST00000538136	D;D;D	0.87334	-2.24;-2.24;-2.24	5.38	5.38	0.77491	DNA mismatch repair protein MutS, core (1);DNA mismatch repair protein MutS, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96420	0.8832	H	0.98559	4.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.978	D	0.97321	0.9944	10	0.51188	T	0.08	-10.4918	19.1221	0.93367	0.0:0.0:1.0:0.0	rs63750253	965;1095	B4DF41;P52701	.;MSH6_HUMAN	H	1095;63;965;793	ENSP00000234420:R1095H;ENSP00000446475:R965H;ENSP00000438580:R793H	ENSP00000234420:R1095H	R	+	2	0	MSH6	47884174	1.000000	0.71417	0.993000	0.49108	0.880000	0.50808	9.835000	0.99442	2.528000	0.85240	0.491000	0.48974	CGC	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251180.4		+	ENST00000234420.5	Missense_Mutation	SNP	2 : 48030670 - 48030670 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	416	95
TCEA2	6919	broad.mit.edu	37	20	62701711	62701711	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62701711C>T	ENST00000361317.2	+	8	977	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	TCEA2_ENST00000343484.5_Missense_Mutation_p.R206W|TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000395053.3_3'UTR	NM_198723.1	NP_942016.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	206	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TGACCTGCGGCGGAATGTGCT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	100	107			NA	NA	20		NA											NA				62701711		2203	4300	6503	SO:0001583	missense			U86749	CCDS13553.1, CCDS13554.1	20q13.33	2011-01-25			ENSG00000171703	ENSG00000171703	6919	6919			11614	protein-coding gene	gene with protein product		604784			NA	9441762, 8566795	Standard	NM_198723	NM_003195	NA	Approved	TFIIS	uc021wgq.1	Q15560	OTTHUMG00000033026	ENST00000361317.2:c.535C>T	20.37:g.62701711C>T	ENSP00000354552:p.Arg179Trp	NA	Q8TD37|Q8TD38	37	CCDS13554.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104062	0.56291	.	.	ENSG00000171703	ENST00000361317;ENST00000343484;ENST00000339217;ENST00000440819;ENST00000458442	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	3.97	-0.0952	0.13642	Transcription elongation factor S-IIM (1);Transcription elongation factor S-II, central domain (4);	0.230417	0.37219	N	0.002183	T	0.63177	0.2489	M	0.90542	3.125	0.37110	D	0.900287	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.85130	0.968;0.968;0.997	T	0.66304	-0.5957	10	0.87932	D	0	-1.4833	6.2334	0.20750	0.6126:0.2791:0.0:0.1083	.	206;206;179	Q15560;Q6IB64;B3KNM1	TCEA2_HUMAN;.;.	W	179;206;179;179;179	ENSP00000354552:R179W;ENSP00000343515:R206W;ENSP00000339432:R179W;ENSP00000407085:R179W;ENSP00000416026:R179W	ENSP00000339432:R179W	R	+	1	2	TCEA2	62172155	0.005000	0.15991	0.044000	0.18714	0.782000	0.44232	0.247000	0.18179	0.248000	0.21435	0.561000	0.74099	CGG	TCEA2-008	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080284.1		+	ENST00000361317.2	Missense_Mutation	SNP	20 : 62701711 - 62701711 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	75
NCOA2	10499	broad.mit.edu	37	8	71039253	71039253	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71039253C>T	ENST00000452400.2	-	19	3892	c.3711G>A	c.(3709-3711)caG>caA	p.Q1237Q	NCOA2_ENST00000267974.4_Silent_p.Q325Q	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1237					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CCCTCTGTCTCTGGGCCAGCA	0.453		NA	T	RUNXBP2, HEY1	AML, Chondrosarcoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	0													101	88	92			NA	NA	8		NA											NA				71039253		1930	4141	6071	SO:0001819	synonymous_variant			X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396	10499	10499		Chromatin-modifying enzymes / K-acetyltransferases, Basic helix-loop-helix proteins	7669	protein-coding gene	gene with protein product		601993			NA	9111344, 8670870	Standard		XM_005251128	NA	Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.3711G>A	8.37:g.71039253C>T		NA	Q14CD2	37	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	C	8.379	0.836999	0.16891	.	.	ENSG00000140396	ENST00000518363	.	.	.	5.97	1.57	0.23409	.	.	.	.	.	T	0.60919	0.2306	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56998	-0.7886	4	.	.	.	.	11.6264	0.51147	0.0:0.7114:0.0:0.2886	.	.	.	.	K	338	.	.	R	-	2	0	NCOA2	71201807	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.108000	0.31123	0.389000	0.25086	0.655000	0.94253	AGA	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379696.1		-	ENST00000452400.2	Silent	SNP	8 : 71039253 - 71039253 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	90	11
CELSR3	1951	broad.mit.edu	37	3	48679431	48679431	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48679431C>T	ENST00000164024.4	-	32	8957	c.8677G>A	c.(8677-8679)Gac>Aac	p.D2893N	CELSR3_ENST00000544264.1_Missense_Mutation_p.D2898N	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2893					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTGTCAGAGTCGGAGTCTGCG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	25	24			NA	NA	3		NA											NA				48679431		2202	4289	6491	SO:0001583	missense			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300	1951	1951		Cadherins / Major cadherins, -, GPCR / Class B : Orphans	3230	protein-coding gene	gene with protein product	flamingo homolog 1 (Drosophila)	604264	cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog	EGFL1	NA	9693030	Standard	NM_001407	NM_001407	NA	Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.8677G>A	3.37:g.48679431C>T	ENSP00000164024:p.Asp2893Asn	NA	O75092	37	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881598	0.72294	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.80393	-1.37;-1.37	5.03	5.03	0.67393	.	.	.	.	.	D	0.90652	0.7068	M	0.82716	2.605	0.80722	D	1	P;P;D	0.89917	0.697;0.571;1.0	B;B;D	0.83275	0.103;0.048;0.996	D	0.91974	0.5589	9	0.87932	D	0	.	18.7191	0.91686	0.0:1.0:0.0:0.0	.	2898;2893;2991	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	N	2893;2898	ENSP00000164024:D2893N;ENSP00000445694:D2898N	ENSP00000164024:D2893N	D	-	1	0	CELSR3	48654435	1.000000	0.71417	0.980000	0.43619	0.670000	0.39368	7.181000	0.77682	2.488000	0.83962	0.511000	0.50034	GAC	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257523.1		-	ENST00000164024.4	Missense_Mutation	SNP	3 : 48679431 - 48679431 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	149	17
ELAC2	60528	broad.mit.edu	37	17	12909125	12909125	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:12909125G>T	ENST00000338034.4	-	10	1054	c.815C>A	c.(814-816)gCt>gAt	p.A272D	ELAC2_ENST00000609345.1_5'UTR|ELAC2_ENST00000395962.2_Missense_Mutation_p.A253D|ELAC2_ENST00000426905.3_Missense_Mutation_p.A232D	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	272					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						AATGATGGGAGCGATGGCAGC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	127	130			NA	NA	17		NA											NA				12909125		2203	4300	6503	SO:0001583	missense			AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	60528	60528	3.1.26.11		14198	protein-coding gene	gene with protein product	tRNase Z (long form)	605367	elaC (E. coli) homolog 2, elaC homolog 2 (E. coli)		NA	10986046, 16636667, 21559454	Standard		NM_018127	NA	Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.815C>A	17.37:g.12909125G>T	ENSP00000337445:p.Ala272Asp	NA	Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	37	CCDS11164.1	.	.	.	.	.	.	.	.	.	.	G	9.587	1.125188	0.20959	.	.	ENSG00000006744	ENST00000426905;ENST00000338034;ENST00000395962	T;T;T	0.64618	0.33;-0.1;-0.11	4.85	3.86	0.44501	.	0.436165	0.26463	N	0.024232	T	0.70596	0.3242	M	0.68317	2.08	0.09310	N	0.999999	D;P;D;P;D;P	0.63880	0.987;0.954;0.993;0.839;0.987;0.907	P;P;P;B;P;P	0.56916	0.649;0.467;0.809;0.347;0.649;0.475	T	0.63690	-0.6580	10	0.66056	D	0.02	-19.3785	11.1433	0.48415	0.0:0.1865:0.8135:0.0	.	232;255;253;95;272;32	B4DPL9;E9PGJ0;G5E9D5;E7ES68;Q9BQ52;B3KSU9	.;.;.;.;RNZ2_HUMAN;.	D	232;272;253	ENSP00000405223:A232D;ENSP00000337445:A272D;ENSP00000379291:A253D	ENSP00000337445:A272D	A	-	2	0	ELAC2	12849850	0.815000	0.29118	0.015000	0.15790	0.760000	0.43138	2.003000	0.40844	1.356000	0.45884	0.563000	0.77884	GCT	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000129934.5		-	ENST00000338034.4	Missense_Mutation	SNP	17 : 12909125 - 12909125 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	475	95
AC004381.6	0	broad.mit.edu	37	16	20851745	20851745	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20851745C>A	ENST00000261377.6	+	15	1790	c.1581C>A	c.(1579-1581)agC>agA	p.S527R	ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Missense_Mutation_p.S527R|AC004381.6_ENST00000564274.1_Missense_Mutation_p.S527R	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2				NA											NA						TGTTTAAAAGCTTTGGCCCAG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	117	116			NA	NA	16		NA											NA				20851745		2201	4300	6501	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000261377.6:c.1581C>A	16.37:g.20851745C>A	ENSP00000261377:p.Ser527Arg	NA		37	CCDS10591.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310552	0.40895	.	.	ENSG00000005189	ENST00000348433;ENST00000261377	T;T	0.31769	1.48;2.36	5.3	4.34	0.51931	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.205916	0.44285	D	0.000473	T	0.30262	0.0759	M	0.68952	2.095	0.29895	N	0.8249	P;P	0.36412	0.552;0.479	B;B	0.39771	0.157;0.309	T	0.18241	-1.0343	10	0.19590	T	0.45	-12.2883	6.6738	0.23083	0.0:0.7193:0.1806:0.1001	.	527;527	Q96IC2-2;Q96IC2	.;REXON_HUMAN	R	527	ENSP00000261378:S527R;ENSP00000261377:S527R	ENSP00000261377:S527R	S	+	3	2	AC004381.6	20759246	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	0.747000	0.26290	1.182000	0.42928	0.561000	0.74099	AGC	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254418.2		+	ENST00000261377.6	Missense_Mutation	SNP	16 : 20851745 - 20851745 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	645	143
SPAG1	6674	broad.mit.edu	37	8	101190150	101190150	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101190150G>A	ENST00000388798.2	+	4	598	c.407G>A	c.(406-408)aGc>aAc	p.S136N	SPAG1_ENST00000520643.1_Missense_Mutation_p.S136N|SPAG1_ENST00000520508.1_Missense_Mutation_p.S136N|SPAG1_ENST00000251809.3_Missense_Mutation_p.S136N	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	136					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		GGTTCAAACAGCTGTCTTCAT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	119	119			NA	NA	8		NA											NA				101190150		2203	4300	6503	SO:0001583	missense			AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450	6674	6674		Tetratricopeptide (TTC) repeat domain containing	11212	protein-coding gene	gene with protein product		603395			NA	16368546	Standard	NM_172218	NM_172218	NA	Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.407G>A	8.37:g.101190150G>A	ENSP00000373450:p.Ser136Asn	NA	A6NP70|Q7Z5G1	37	CCDS34930.1	.	.	.	.	.	.	.	.	.	.	G	7.934	0.741393	0.15642	.	.	ENSG00000104450	ENST00000520643;ENST00000251809;ENST00000520508;ENST00000388798	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	4.47	2.67	0.31697	.	0.713412	0.13896	N	0.355225	T	0.16896	0.0406	M	0.75264	2.295	0.09310	N	1	B;B	0.15473	0.013;0.004	B;B	0.11329	0.005;0.006	T	0.18808	-1.0325	10	0.62326	D	0.03	-3.0269	6.9275	0.24424	0.2093:0.0:0.7907:0.0	.	136;136	Q07617;G3XAM3	SPAG1_HUMAN;.	N	136	ENSP00000427716:S136N;ENSP00000251809:S136N;ENSP00000428070:S136N;ENSP00000373450:S136N	ENSP00000251809:S136N	S	+	2	0	SPAG1	101259326	0.005000	0.15991	0.018000	0.16275	0.787000	0.44495	1.243000	0.32767	0.621000	0.30232	0.591000	0.81541	AGC	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379853.2		+	ENST00000388798.2	Missense_Mutation	SNP	8 : 101190150 - 101190150 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	424	37
TPO	7173	broad.mit.edu	37	2	1457548	1457548	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1457548C>T	ENST00000345913.4	+	6	656	c.565C>T	c.(565-567)Cga>Tga	p.R189*	TPO_ENST00000382201.3_Nonsense_Mutation_p.R189*|TPO_ENST00000497517.2_Intron|TPO_ENST00000329066.4_Nonsense_Mutation_p.R189*|TPO_ENST00000382198.1_Nonsense_Mutation_p.R189*|TPO_ENST00000349624.3_Nonsense_Mutation_p.R189*|TPO_ENST00000337415.3_Nonsense_Mutation_p.R189*|TPO_ENST00000346956.3_Nonsense_Mutation_p.R189*	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	189					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)	CAGTCAGCCCCGAGGCTGGAA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	55	53			NA	NA	2		NA											NA				1457548		2203	4300	6503	SO:0001587	stop_gained				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.565C>T	2.37:g.1457548C>T	ENSP00000318820:p.Arg189*	NA	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	37	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.537771	0.65085	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464	.	.	.	5.27	-4.71	0.03279	.	0.293852	0.35970	N	0.002873	.	.	.	.	.	.	0.42641	D	0.993417	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-10.4783	20.418	0.99029	0.2731:0.7269:0.0:0.0	.	.	.	.	X	189;189;189;189;189;189;189;118	.	ENSP00000329869:R189X	R	+	1	2	TPO	1436555	0.006000	0.16342	0.087000	0.20705	0.615000	0.37417	1.309000	0.33539	-1.228000	0.02568	-0.474000	0.04947	CGA	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206594.2		+	ENST00000345913.4	Nonsense_Mutation	SNP	2 : 1457548 - 1457548 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	117
PIGL	9487	broad.mit.edu	37	17	16120611	16120611	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16120611C>T	ENST00000395844.4	+	1	88	c.71C>T	c.(70-72)tCc>tTc	p.S24F	PIGL_ENST00000463810.1_3'UTR|PIGL_ENST00000225609.5_Missense_Mutation_p.S24F|PIGL_ENST00000498772.2_Missense_Mutation_p.S24F|PIGL_ENST00000581006.1_Missense_Mutation_p.S24F			Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L	NA					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		GTTTGGGACTCCTCAGAACGA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	98	102			NA	NA	17		NA											NA				16120611		2203	4300	6503	SO:0001583	missense			AB017165	CCDS11176.1	17p12-p11.2	2013-02-26	2006-06-28		ENSG00000108474	ENSG00000108474	9487	9487	3.5.1.89	Phosphatidylinositol glycan anchor biosynthesis	8966	protein-coding gene	gene with protein product	N-acetylglucosaminylphosphatidylinositol deacetylase	605947	phosphatidylinositol glycan, class L		NA	10085243	Standard		NM_004278	NA	Approved		uc002gpv.3	Q9Y2B2	OTTHUMG00000059346	ENST00000395844.4:c.71C>T	17.37:g.16120611C>T	ENSP00000379185:p.Ser24Phe	NA	A8KA67	37		.	.	.	.	.	.	.	.	.	.	C	11.53	1.667515	0.29604	.	.	ENSG00000108474	ENST00000225609;ENST00000395844	T;T	0.78364	-1.1;-1.17	5.49	-1.33	0.09172	.	1.039030	0.07536	N	0.913102	T	0.60612	0.2282	L	0.32530	0.975	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.39981	-0.9587	10	0.09843	T	0.71	-0.3025	5.2966	0.15756	0.0:0.4091:0.1566:0.4343	.	24;24	B4DYN4;Q9Y2B2	.;PIGL_HUMAN	F	24	ENSP00000225609:S24F;ENSP00000379185:S24F	ENSP00000225609:S24F	S	+	2	0	PIGL	16061336	0.000000	0.05858	0.000000	0.03702	0.204000	0.24138	-0.094000	0.11094	0.016000	0.14998	0.655000	0.94253	TCC	PIGL-005	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000131885.2		+	ENST00000395844.4	Missense_Mutation	SNP	17 : 16120611 - 16120611 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	369	76
GLIS3	169792	broad.mit.edu	37	9	4118509	4118509	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4118509C>T	ENST00000324333.10	-	3	697	c.504G>A	c.(502-504)tcG>tcA	p.S168S	GLIS3_ENST00000381971.3_Silent_p.S323S	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	168					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		AGGACGTGGGCGACGTGCGGA	0.647		NA											C	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	4e-04	0.95	EXOME	NA	NA	0.014	SNP								NA				0													72	62	65			NA	NA	9		NA											NA				4118509		2203	4300	6503	SO:0001819	synonymous_variant			BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249	169792	169792		Zinc fingers, C2H2-type	28510	protein-coding gene	gene with protein product		610192	zinc finger protein 515	ZNF515	NA	14500813	Standard	NM_152629	NM_152629	NA	Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.504G>A	9.37:g.4118509C>T		NA	B1AL19|Q1PHK5	37	CCDS6451.1																																																																																			GLIS3-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051559.1		-	ENST00000324333.10	Silent	SNP	9 : 4118509 - 4118509 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	475	32
ANKRD11	29123	broad.mit.edu	37	16	89349137	89349137	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89349137C>T	ENST00000301030.4	-	9	4273	c.3813G>A	c.(3811-3813)tcG>tcA	p.S1271S	ANKRD11_ENST00000378330.2_Silent_p.S1271S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1271	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CGGCACTTCTCGAGGACTTCC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4395	2.1+/-5.4	0,1,2197	63	66	65		3813	-10.6	0	16		65	0,8600		0,0,4300	no	coding-synonymous	ANKRD11	NM_013275.4		0,1,6497	TT,TC,CC	NA	0.0,0.0227,0.0077		1271/2664	89349137	1,12995	2198	4300	6498	SO:0001819	synonymous_variant			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522	29123	29123		Ankyrin repeat domain containing	21316	protein-coding gene	gene with protein product		611192			NA	11483580	Standard	NM_013275	NM_001256182	NA	Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.3813G>A	16.37:g.89349137C>T		NA	Q6NTG1|Q6QMF8	37	CCDS32513.1																																																																																			ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000430462.3		-	ENST00000301030.4	Silent	SNP	16 : 89349137 - 89349137 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	559	93
ASTN1	460	broad.mit.edu	37	1	176863860	176863860	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176863860C>T	ENST00000367657.3	-	17	2968	c.2778G>A	c.(2776-2778)gcG>gcA	p.A926A	ASTN1_ENST00000367654.3_Silent_p.A934A|ASTN1_ENST00000361833.2_Silent_p.A926A|ASTN1_ENST00000424564.2_Silent_p.A926A			O14525	ASTN1_HUMAN	astrotactin 1	934					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGACTCCAGCCGCCATGTGCT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	97	98			NA	NA	1		NA											NA				176863860		2203	4300	6503	SO:0001819	synonymous_variant			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092	460	460			773	protein-coding gene	gene with protein product		600904	astrotactin	ASTN	NA	9070947	Standard	NM_004319	NM_001286164	NA	Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367657.3:c.2778G>A	1.37:g.176863860C>T		NA	O60799|Q5W0V7|Q5W0V8	37																																																																																				ASTN1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000084823.1		-	ENST00000367657.3	Silent	SNP	1 : 176863860 - 176863860 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	829	199
BTBD11	121551	broad.mit.edu	37	12	108051379	108051379	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108051379C>A	ENST00000280758.5	+	17	3727	c.3199C>A	c.(3199-3201)Ctg>Atg	p.L1067M	BTBD11_ENST00000420571.2_Missense_Mutation_p.L948M|BTBD11_ENST00000357167.4_Missense_Mutation_p.L604M|BTBD11_ENST00000494235.2_Missense_Mutation_p.L146M	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1067						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CAAGCAGCTCCTGTATGACAA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	113	117			NA	NA	12		NA											NA				108051379		2203	4300	6503	SO:0001583	missense			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136	121551	121551		BTB/POZ domain containing, Ankyrin repeat domain containing	23844	protein-coding gene	gene with protein product					NA		Standard	NM_152322	XM_005268645	NA	Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.3199C>A	12.37:g.108051379C>A	ENSP00000280758:p.Leu1067Met	NA	A4FU41|C9J019|C9JK80|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	37	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568358	0.65651	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000357167;ENST00000494235	T;T;T;T	0.47177	1.05;1.26;0.85;1.1	5.84	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.65491	0.2696	M	0.73962	2.25	0.53688	D	0.999978	D;D	0.76494	0.998;0.999	D;D	0.83275	0.986;0.996	T	0.67757	-0.5588	10	0.87932	D	0	.	9.906	0.41377	0.0:0.8103:0.0:0.1897	.	604;1067	E9PHS4;A6QL63	.;BTBDB_HUMAN	M	1067;948;604;146	ENSP00000280758:L1067M;ENSP00000413889:L948M;ENSP00000349690:L604M;ENSP00000448322:L146M	ENSP00000280758:L1067M	L	+	1	2	BTBD11	106575509	1.000000	0.71417	0.973000	0.42090	0.977000	0.68977	1.777000	0.38604	2.760000	0.94817	0.655000	0.94253	CTG	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318003.1		+	ENST00000280758.5	Missense_Mutation	SNP	12 : 108051379 - 108051379 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	420	98
SZT2	23334	broad.mit.edu	37	1	43896456	43896456	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43896456C>T	ENST00000562955.1	+	31	4599	c.4599C>T	c.(4597-4599)tgC>tgT	p.C1533C	SZT2_ENST00000372442.1_Silent_p.C691C	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1590						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGCCTACCTGCCTGGGTGAGT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	72	70			NA	NA	1		NA											NA				43896456		2203	4299	6502	SO:0001819	synonymous_variant			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198	23334	23334			29040	protein-coding gene	gene with protein product	seizure threshold 2 homolog A (mouse), seizure threshold 2 homolog B (mouse)	615463	chromosome 1 open reading frame 84, KIAA0467	C1orf84, KIAA0467	NA	9455484	Standard	NM_015284	NM_015284	NA	Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.4599C>T	1.37:g.43896456C>T		NA	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	37	CCDS30694.2																																																																																			SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019517.3		+	ENST00000562955.1	Silent	SNP	1 : 43896456 - 43896456 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	694	59
REC8	9985	broad.mit.edu	37	14	24642111	24642111	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24642111G>A	ENST00000311457.3	+	4	728	c.129G>A	c.(127-129)gaG>gaA	p.E43E	REC8_ENST00000559919.1_Silent_p.E43E			O95072	REC8_HUMAN	REC8 meiotic recombination protein	43					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		TCCCCAGCGAGGAAATCCTCA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(139;1764 2537 12868 49041)							NA				0													54	62	59			NA	NA	14		NA											NA				24642111		2043	4178	6221	SO:0001819	synonymous_variant			AF006264	CCDS41932.1	14q11.2-q12	2013-08-06	2013-08-06	2007-04-03		ENSG00000100918	9985	9985			16879	protein-coding gene	gene with protein product		608193	REC8-like 1 (yeast), REC8 homolog (yeast)	REC8L1	NA	10207075, 15935783, 12759374	Standard	NM_005132	NM_005132	NA	Approved	Rec8p, kleisin-alpha	uc001wms.3	O95072		ENST00000311457.3:c.129G>A	14.37:g.24642111G>A		NA	A8K576|D3DS62|Q658V5|Q6IA92|Q8WUV8|Q9BTF2|Q9NVQ9	37	CCDS41932.1																																																																																			REC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415889.3		+	ENST00000311457.3	Silent	SNP	14 : 24642111 - 24642111 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	460	90
RAPGEF2	9693	broad.mit.edu	37	4	160277266	160277266	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:160277266G>A	ENST00000264431.4	+	23	4849	c.4430G>A	c.(4429-4431)cGc>cAc	p.R1477H		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1477					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TCTGACCCGCGCCTCGCCCCC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	44	43			NA	NA	4		NA											NA				160277266		2082	4210	6292	SO:0001583	missense			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01			9693	9693			16854	protein-coding gene	gene with protein product	Rap GEP	609530	PDZ domain containing guanine nucleotide exchange factor (GEF) 1	PDZGEF1	NA	9205841, 10934204	Standard	NM_014247	NM_014247	NA	Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.4430G>A	4.37:g.160277266G>A	ENSP00000264431:p.Arg1477His	NA	D3DP27	37	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.259225	0.59321	.	.	ENSG00000109756	ENST00000264431	T	0.39592	1.07	5.05	5.05	0.67936	.	0.078055	0.51477	D	0.000091	T	0.34366	0.0895	L	0.36672	1.1	0.45161	D	0.998174	B	0.09022	0.002	B	0.04013	0.001	T	0.14282	-1.0478	10	0.56958	D	0.05	.	12.8136	0.57652	0.0787:0.0:0.9213:0.0	.	1477	Q9Y4G8	RPGF2_HUMAN	H	1477	ENSP00000264431:R1477H	ENSP00000264431:R1477H	R	+	2	0	RAPGEF2	160496716	1.000000	0.71417	0.970000	0.41538	0.956000	0.61745	4.472000	0.60189	2.330000	0.79161	0.563000	0.77884	CGC	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364980.2		+	ENST00000264431.4	Missense_Mutation	SNP	4 : 160277266 - 160277266 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	224	44
PRPH	5630	broad.mit.edu	37	12	49691311	49691311	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49691311G>T	ENST00000257860.4	+	6	2667	c.1168G>T	c.(1168-1170)Gac>Tac	p.D390Y	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P41219	PERI_HUMAN	peripherin	390	Coil 2.|Rod.						structural molecule activity			kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						GATGGCCCTGGACATCGAGAT	0.692		NA									OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	34	33			NA	NA	12		NA											NA				49691311		2202	4300	6502	SO:0001583	missense				CCDS8783.1	12q12-q13	2013-01-16					5630	5630		Intermediate filaments type III	9461	protein-coding gene	gene with protein product		170710		NEF4	NA	1378416	Standard	NM_006262	XM_005269025	NA	Approved	PRPH1	uc001rtu.3	P41219		ENST00000257860.4:c.1168G>T	12.37:g.49691311G>T	ENSP00000257860:p.Asp390Tyr	964	Q8N577	37	CCDS8783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.270856|5.270856	0.95429|0.95429	.|.	.|.	ENSG00000135406|ENSG00000135406	ENST00000257860|ENST00000532332	D|.	0.91740|.	-2.9|.	5.48|5.48	5.48|5.48	0.80851|0.80851	Filament (1);|.	0.000000|.	0.35936|.	N|.	0.002898|.	D|D	0.91112|0.91112	0.7202|0.7202	H|H	0.98769|0.98769	4.325|4.325	0.80722|0.80722	D|D	1|1	P|.	0.41450|.	0.75|.	P|.	0.48738|.	0.588|.	D|D	0.94583|0.94583	0.7781|0.7781	10|5	0.87932|.	D|.	0|.	.|.	18.1164|18.1164	0.89556|0.89556	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	390|.	P41219|.	PERI_HUMAN|.	Y|V	390|118	ENSP00000257860:D390Y|.	ENSP00000257860:D390Y|.	D|G	+|+	1|2	0|0	PRPH|PRPH	47977578|47977578	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.797000|9.797000	0.99108|0.99108	2.553000|2.553000	0.86117|0.86117	0.655000|0.655000	0.94253|0.94253	GAC|GGA	PRPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393381.1		+	ENST00000257860.4	Missense_Mutation	SNP	12 : 49691311 - 49691311 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	370	45
CDC34	997	broad.mit.edu	37	19	535886	535886	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:535886G>A	ENST00000215574.4	+	2	445	c.227G>A	c.(226-228)cGg>cAg	p.R76Q		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	76					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCCTTTCGGTTCCTGACC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	GLN/ARG	0,4406		0,0,2203	263	260	261		227	5.1	0.2	19		261	1,8599	1.2+/-3.3	0,1,4299	no	missense	CDC34	NM_004359.1	43	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	possibly-damaging	76/237	535886	1,13005	2203	4300	6503	SO:0001583	missense			L22005	CCDS12030.1	19p13.3	2013-01-17	2013-01-17				997	997		Ubiquitin-conjugating enzymes E2	1734	protein-coding gene	gene with protein product		116948	cell division cycle 34, cell division cycle 34 homolog (S. cerevisiae)		NA	8248134, 16210246	Standard	NM_004359	NM_004359	NA	Approved	E2-CDC34, UBE2R1, UBC3	uc002lov.3	P49427		ENST00000215574.4:c.227G>A	19.37:g.535886G>A	ENSP00000215574:p.Arg76Gln	NA	A8K689	37	CCDS12030.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870932	0.51695	0.0	1.16E-4	ENSG00000099804	ENST00000215574	T	0.38240	1.15	5.13	5.13	0.70059	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.29850	0.0746	L	0.45698	1.435	0.80722	D	1	P	0.43909	0.821	B	0.29785	0.107	T	0.23404	-1.0189	10	0.51188	T	0.08	-23.2597	17.6415	0.88138	0.0:0.0:1.0:0.0	.	76	P49427	UB2R1_HUMAN	Q	76	ENSP00000215574:R76Q	ENSP00000215574:R76Q	R	+	2	0	CDC34	486886	1.000000	0.71417	0.190000	0.23270	0.165000	0.22458	7.729000	0.84864	2.388000	0.81334	0.603000	0.83216	CGG	CDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451889.2		+	ENST00000215574.4	Missense_Mutation	SNP	19 : 535886 - 535886 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2465	480
DPH1	1801	broad.mit.edu	37	17	1943817	1943817	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1943817C>T	ENST00000263083.6	+	9	985	c.940C>T	c.(940-942)Cga>Tga	p.R314*	DPH1_ENST00000570477.1_Nonsense_Mutation_p.R234*	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	314					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						ATCTCGACTCCGAGCCTTGGG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	82	83			NA	NA	17		NA											NA				1943817		2057	4212	6269	SO:0001587	stop_gained			S81752	CCDS42228.1	17p13.3	2013-05-02	2013-05-02	2005-06-03	ENSG00000108963	ENSG00000108963	1801	1801			3003	protein-coding gene	gene with protein product	ovarian tumor suppressor candidate 1	603527	diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae), DPH-like 1 (S. cerevisiae), DPH1 homolog (S. cerevisiae)	DPH2L, DPH2L1	NA	8603384, 15485916, 22869748	Standard	NM_001383	NM_001383	NA	Approved	OVCA1	uc002fts.3	Q9BZG8	OTTHUMG00000177724	ENST00000263083.6:c.940C>T	17.37:g.1943817C>T	ENSP00000263083:p.Arg314*	NA	D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0	37	CCDS42228.1	.	.	.	.	.	.	.	.	.	.	C	40	7.956974	0.98580	.	.	ENSG00000108963	ENST00000263083	.	.	.	5.25	3.18	0.36537	.	0.822586	0.11389	N	0.569013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	3.1253	9.3191	0.37952	0.1461:0.7767:0.0:0.0773	.	.	.	.	X	314	.	ENSP00000263083:R314X	R	+	1	2	DPH1	1890567	0.025000	0.19082	0.052000	0.19188	0.171000	0.22731	1.746000	0.38288	1.152000	0.42452	0.561000	0.74099	CGA	DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438660.1		+	ENST00000263083.6	Nonsense_Mutation	SNP	17 : 1943817 - 1943817 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	481	69
OR7D4	125958	broad.mit.edu	37	19	9325388	9325388	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9325388G>A	ENST00000308682.2	-	1	154	c.126C>T	c.(124-126)aaC>aaT	p.N42N		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TGATGAGCAGGTTCCCCAGCA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	74	75			NA	NA	19		NA											NA				9325388		2203	4300	6503	SO:0001819	synonymous_variant				CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667	125958	125958		GPCR / Class A : Olfactory receptors	8380	protein-coding gene	gene with protein product		611538		OR7D4P	NA		Standard		NM_001005191	NA	Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.126C>T	19.37:g.9325388G>A		NA	A8CAH8|B9EH79	37	CCDS32901.1																																																																																			OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449004.1		-	ENST00000308682.2	Silent	SNP	19 : 9325388 - 9325388 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	569	110
POLR1B	84172	broad.mit.edu	37	2	113333196	113333196	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113333196C>T	ENST00000417433.2	+	14	3160	c.3130C>T	c.(3130-3132)Ctg>Ttg	p.L1044L	POLR1B_ENST00000263331.5_Silent_p.L1100L|POLR1B_ENST00000537335.1_Silent_p.L889L|POLR1B_ENST00000409894.3_Silent_p.L917L|POLR1B_ENST00000541869.1_Silent_p.L1138L	NM_001137604.1	NP_001131076.1	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	1100					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						CAACTGTACTCTGTGTAGTCG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(16;256 576 9537 23969 41147)							NA				0													142	121	128			NA	NA	2		NA											NA				113333196		2203	4300	6503	SO:0001819	synonymous_variant			AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630	84172	84172		RNA polymerase subunits	20454	protein-coding gene	gene with protein product		602000			NA		Standard	NM_019014	NM_001137604	NA	Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000417433.2:c.3130C>T	2.37:g.113333196C>T		NA	Q585T5|Q6ZRR2|Q9H9D3	37	CCDS46395.1	.	.	.	.	.	.	.	.	.	.	C	4.802	0.149075	0.09185	.	.	ENSG00000125630	ENST00000536096	.	.	.	5.37	-3.41	0.04839	.	.	.	.	.	T	0.59783	0.2219	.	.	.	0.38933	D	0.957993	.	.	.	.	.	.	T	0.64592	-0.6371	5	0.87932	D	0	-6.2206	8.4804	0.33038	0.0848:0.1293:0.6273:0.1586	.	.	.	.	F	458	.	ENSP00000441192:S458F	S	+	2	0	POLR1B	113049667	0.003000	0.15002	0.000000	0.03702	0.962000	0.63368	0.042000	0.13949	-0.551000	0.06175	-0.262000	0.10625	TCT	POLR1B-005	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330626.1		+	ENST00000417433.2	Silent	SNP	2 : 113333196 - 113333196 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	530	147
ASCC2	84164	broad.mit.edu	37	22	30186501	30186501	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30186501C>A	ENST00000397771.2	-	20	2236	c.2059G>T	c.(2059-2061)Gag>Tag	p.E687*	ASCC2_ENST00000542393.1_Nonsense_Mutation_p.E611*|ASCC2_ENST00000307790.3_Nonsense_Mutation_p.E687*			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	687					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			TCTGCCTTCTCTCTCAGCACT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	51	53			NA	NA	22		NA											NA				30186501		2203	4300	6503	SO:0001587	stop_gained			AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325	84164	84164			24103	protein-coding gene	gene with protein product	ASC 1 complex subunit P100	614216			NA	12077347, 9847074	Standard	NM_032204	NM_032204	NA	Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.2059G>T	22.37:g.30186501C>A	ENSP00000380877:p.Glu687*	NA	Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	37	CCDS13869.1	.	.	.	.	.	.	.	.	.	.	C	39	7.817971	0.98507	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-30.8065	18.5398	0.91023	0.0:1.0:0.0:0.0	.	.	.	.	X	687;687;611	.	ENSP00000305502:E687X	E	-	1	0	ASCC2	28516501	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.714000	0.74692	2.713000	0.92767	0.655000	0.94253	GAG	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322127.1		-	ENST00000397771.2	Nonsense_Mutation	SNP	22 : 30186501 - 30186501 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	46
KIAA0368	23392	broad.mit.edu	37	9	114140876	114140876	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114140876G>A	ENST00000338205.5	-	35	4157	c.3938C>T	c.(3937-3939)gCg>gTg	p.A1313V	KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000259335.4_Missense_Mutation_p.A1491V					KIAA0368	NA										NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TTGCTCTGTCGCCCGGAGGCT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	92	93			NA	NA	9		NA											NA				114140876		1896	4103	5999	SO:0001583	missense			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813	23392	23392			29020	protein-coding gene	gene with protein product	ECM29 homolog (S. cerevisiae)				NA	9205841, 15496406, 20682791	Standard	NM_014686	NM_001080398	NA	Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.3938C>T	9.37:g.114140876G>A	ENSP00000339889:p.Ala1313Val	NA		37		.	.	.	.	.	.	.	.	.	.	G	21.8	4.203697	0.79127	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.55588	0.51	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.59649	0.2209	M	0.79805	2.47	0.80722	D	1	P	0.39352	0.669	B	0.38296	0.27	T	0.64343	-0.6430	10	0.44086	T	0.13	.	19.3995	0.94621	0.0:0.0:1.0:0.0	.	788	B3KXF2	.	V	1313;1491;788	ENSP00000259335:A1491V	ENSP00000259335:A1491V	A	-	2	0	KIAA0368	113180697	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.420000	0.97426	2.645000	0.89757	0.563000	0.77884	GCG	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000053637.2		-	ENST00000338205.5	Missense_Mutation	SNP	9 : 114140876 - 114140876 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	471	91
EMILIN2	84034	broad.mit.edu	37	18	2890564	2890564	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:2890564G>A	ENST00000254528.3	+	4	598	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	147					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		AACAGATAATGAACCCAGCCA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	44	43			NA	NA	18		NA											NA				2890564		2203	4300	6503	SO:0001583	missense			AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205	84034	84034		EMI domain containing	19881	protein-coding gene	gene with protein product		608928			NA		Standard	NM_032048	NM_032048	NA	Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.439G>A	18.37:g.2890564G>A	ENSP00000254528:p.Glu147Lys	NA	B2RMY3|Q8NBH3|Q96JQ4	37	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.534511	0.27475	.	.	ENSG00000132205	ENST00000254528	T	0.35236	1.32	5.44	5.44	0.79542	.	0.759946	0.12001	N	0.508783	T	0.33818	0.0876	L	0.54323	1.7	0.32662	N	0.51795	B	0.21147	0.052	B	0.21917	0.037	T	0.36962	-0.9726	10	0.06494	T	0.89	-11.8618	14.7602	0.69600	0.0:0.0:1.0:0.0	.	147	Q9BXX0	EMIL2_HUMAN	K	147	ENSP00000254528:E147K	ENSP00000254528:E147K	E	+	1	0	EMILIN2	2880564	1.000000	0.71417	0.994000	0.49952	0.234000	0.25298	4.484000	0.60271	2.555000	0.86185	0.557000	0.71058	GAA	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250337.2		+	ENST00000254528.3	Missense_Mutation	SNP	18 : 2890564 - 2890564 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	316	43
SCN10A	6336	broad.mit.edu	37	3	38781010	38781010	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38781010C>T	ENST00000449082.2	-	14	2275	c.2276G>A	c.(2275-2277)cGc>cAc	p.R759H		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	759					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CATTACCAAGCGGAAGCTCCG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	48	49			NA	NA	3		NA											NA				38781010		2203	4300	6503	SO:0001583	missense			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313	6336	6336		Sodium channels, Voltage-gated ion channels / Sodium channels	10582	protein-coding gene	gene with protein product		604427	sodium channel, voltage-gated, type X, alpha polypeptide		NA	9839820, 10198179, 16382098	Standard	NM_006514	NM_006514	NA	Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2276G>A	3.37:g.38781010C>T	ENSP00000390600:p.Arg759His	NA	A6NDQ1	37	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.016405	0.93404	.	.	ENSG00000185313	ENST00000449082	D	0.98822	-5.16	4.19	4.19	0.49359	Ion transport (1);	0.116150	0.53938	D	0.000044	D	0.99551	0.9839	H	0.99273	4.495	0.49798	D	0.999823	D	0.89917	1.0	D	0.91635	0.999	D	0.97485	1.0050	10	0.87932	D	0	.	16.7073	0.85375	0.0:1.0:0.0:0.0	.	759	Q9Y5Y9	SCNAA_HUMAN	H	759	ENSP00000390600:R759H	ENSP00000390600:R759H	R	-	2	0	SCN10A	38756014	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.823000	0.69272	2.174000	0.68829	0.655000	0.94253	CGC	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109745.3		-	ENST00000449082.2	Missense_Mutation	SNP	3 : 38781010 - 38781010 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	277	46
GRM7	2917	broad.mit.edu	37	3	6903328	6903328	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:6903328G>A	ENST00000486284.1	+	1	527	c.253G>A	c.(253-255)Gcc>Acc	p.A85T	GRM7_ENST00000402647.2_Missense_Mutation_p.A85T|GRM7_ENST00000403881.1_Missense_Mutation_p.A85T|GRM7_ENST00000389336.4_Missense_Mutation_p.A85T|GRM7_ENST00000357716.4_Missense_Mutation_p.A85T	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	85					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GATGCTCTACGCCCTGGACCA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	35	37			NA	NA	3		NA											NA				6903328		2203	4300	6503	SO:0001583	missense			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277	2917	2917		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4599	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 87	604101			NA	8288585, 8840028	Standard	NM_000844	NM_000844	NA	Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000486284.1:c.253G>A	3.37:g.6903328G>A	ENSP00000417536:p.Ala85Thr	NA	Q8NFS2|Q8NFS3|Q8NFS4	37		.	.	.	.	.	.	.	.	.	.	G	26.5	4.740907	0.89573	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41;-3.41	5.27	5.27	0.74061	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000002	D	0.95487	0.8534	L	0.56340	1.77	0.80722	D	1	D;D;P	0.76494	0.999;0.999;0.85	D;D;B	0.80764	0.99;0.994;0.343	D	0.94407	0.7628	10	0.33141	T	0.24	.	17.462	0.87622	0.0:0.0:1.0:0.0	.	85;85;85	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	T	85	ENSP00000350348:A85T;ENSP00000417536:A85T;ENSP00000373987:A85T;ENSP00000385664:A85T;ENSP00000384585:A85T	ENSP00000350348:A85T	A	+	1	0	GRM7	6878328	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.649000	0.98487	2.448000	0.82819	0.563000	0.77884	GCC	GRM7-015	PUTATIVE	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000354360.1		+	ENST00000486284.1	Missense_Mutation	SNP	3 : 6903328 - 6903328 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	139	17
WBP11	51729	broad.mit.edu	37	12	14947480	14947480	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:14947480G>T	ENST00000261167.2	-	7	945	c.712C>A	c.(712-714)Cct>Act	p.P238T		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	238					mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						CCAAGTTCAGGACTATATAAC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													197	208	204			NA	NA	12		NA											NA				14947480		2203	4300	6503	SO:0001583	missense			AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463	51729	51729			16461	protein-coding gene	gene with protein product	splicing factor, PQBP1 and PP1 interacting, protein phosphatase 1, regulatory subunit 165				NA	10593949	Standard	NM_016312	NM_016312	NA	Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.712C>A	12.37:g.14947480G>T	ENSP00000261167:p.Pro238Thr	NA	Q96AY8	37	CCDS8666.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.355146	0.41700	.	.	ENSG00000084463	ENST00000261167;ENST00000537574	.	.	.	4.36	4.36	0.52297	.	0.411905	0.26072	N	0.026504	T	0.62344	0.2420	L	0.40543	1.245	0.48632	D	0.999686	D	0.64830	0.994	P	0.62885	0.908	T	0.54450	-0.8292	9	0.12766	T	0.61	-6.7753	14.7645	0.69629	0.0:0.0:1.0:0.0	.	238	Q9Y2W2	WBP11_HUMAN	T	238	.	ENSP00000261167:P238T	P	-	1	0	WBP11	14838747	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.762000	0.55250	2.437000	0.82529	0.655000	0.94253	CCT	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400850.1		-	ENST00000261167.2	Missense_Mutation	SNP	12 : 14947480 - 14947480 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1834	76
STX10	8677	broad.mit.edu	37	19	13256126	13256126	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13256126G>A	ENST00000589083.1	-	5	499	c.447C>T	c.(445-447)atC>atT	p.I149I	STX10_ENST00000343587.5_Silent_p.I100I|STX10_ENST00000242770.5_Silent_p.I149I|STX10_ENST00000587230.1_Silent_p.I149I	NM_001271610.1	NP_001258539.1	O60499	STX10_HUMAN	syntaxin 10	149					Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane	SNAP receptor activity			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			GCTGCTCCTCGATGTAGCGAG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	47	48			NA	NA	19		NA											NA				13256126		2203	4300	6503	SO:0001819	synonymous_variant			AF035531	CCDS32922.1, CCDS62569.1, CCDS62570.1, CCDS62571.1	19p13.13	2008-07-22				ENSG00000104915	8677	8677			11428	protein-coding gene	gene with protein product		603765			NA	9446797	Standard	NM_003765	NM_003765	NA	Approved	hsyn10, SYN10	uc021upq.2	O60499		ENST00000589083.1:c.447C>T	19.37:g.13256126G>A		NA	A6NC41|Q6IAP4|Q96AE8	37																																																																																				STX10-005	PUTATIVE	non_canonical_U12|basic	protein_coding	NA	protein_coding	OTTHUMT00000452917.1		-	ENST00000589083.1	Silent	SNP	19 : 13256126 - 13256126 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	218	42
CNTRL	11064	broad.mit.edu	37	9	123904467	123904467	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123904467A>C	ENST00000373855.1	+	19	3050	c.2790A>C	c.(2788-2790)caA>caC	p.Q930H	CNTRL_ENST00000238341.5_Missense_Mutation_p.Q930H|CNTRL_ENST00000373850.1_Missense_Mutation_p.Q378H|CNTRL_ENST00000373847.1_Missense_Mutation_p.Q378H			Q7Z7A1	CNTRL_HUMAN	centriolin	930					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AGGAAATCCAAGGCCTTACAG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	51	52			NA	NA	9		NA											NA				123904467		2203	4300	6503	SO:0001583	missense			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397	11064	11064			1858	protein-coding gene	gene with protein product		605496	centrosomal protein 1, centrosomal protein 110kDa	CEP1, CEP110	NA	10688839	Standard	NM_007018	XM_005251679	NA	Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.2790A>C	9.37:g.123904467A>C	ENSP00000362962:p.Gln930His	NA	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	37	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	A	19.23	3.787258	0.70337	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000373851;ENST00000373850;ENST00000373847	T;T;T;T	0.13901	2.55;2.55;2.55;2.55	5.61	4.49	0.54785	.	.	.	.	.	T	0.22589	0.0545	L	0.32530	0.975	0.34162	D	0.66879	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.993	T	0.17198	-1.0377	9	0.42905	T	0.14	.	7.5375	0.27719	0.852:0.0:0.148:0.0	.	930;930	F5GZN0;Q7Z7A1	.;CNTRL_HUMAN	H	930;930;930;412;378;378	ENSP00000362962:Q930H;ENSP00000238341:Q930H;ENSP00000362956:Q378H;ENSP00000362953:Q378H	ENSP00000238341:Q930H	Q	+	3	2	CNTRL	122944288	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.549000	0.53681	2.140000	0.66376	0.533000	0.62120	CAA	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250216.1		+	ENST00000373855.1	Missense_Mutation	SNP	9 : 123904467 - 123904467 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	155	30
SPHK1	8877	broad.mit.edu	37	17	74383248	74383248	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74383248C>T	ENST00000545180.1	+	8	1545	c.736C>T	c.(736-738)Ccc>Tcc	p.P246S	SPHK1_ENST00000392496.3_Missense_Mutation_p.P246S|SPHK1_ENST00000590959.1_Missense_Mutation_p.P260S|SPHK1_ENST00000323374.4_Missense_Mutation_p.P332S|SPHK1_ENST00000592299.1_Missense_Mutation_p.P246S			Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1	246					'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|calmodulin binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|DNA binding|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11						GGAGCCAGTGCCCTCTCACTG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(90;966 1307 27369 33775 44498)							NA				0													57	43	47			NA	NA	17		NA											NA				74383248		2203	4300	6503	SO:0001583	missense			BC030553	CCDS11744.1, CCDS45785.1, CCDS59297.1	17q25.2	2004-02-18				ENSG00000176170	8877	8877			11240	protein-coding gene	gene with protein product		603730			NA	9726979	Standard	NM_182965, NM_021972	NM_182965	NA	Approved	SPHK	uc002jrj.2	Q9NYA1		ENST00000545180.1:c.736C>T	17.37:g.74383248C>T	ENSP00000440970:p.Pro246Ser	NA	Q8N632|Q9HD92|Q9NY70|Q9NYL3	37	CCDS45785.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601439	0.87055	.	.	ENSG00000176170	ENST00000545180;ENST00000323374;ENST00000392496;ENST00000543830	T;T;T	0.28255	1.7;1.62;1.7	5.08	5.08	0.68730	.	0.054040	0.85682	D	0.000000	T	0.45816	0.1361	L	0.43646	1.37	0.58432	D	0.999999	P;P;D	0.71674	0.537;0.942;0.998	B;P;P	0.61003	0.237;0.562;0.882	T	0.30238	-0.9985	10	0.41790	T	0.15	-10.889	18.4809	0.90811	0.0:1.0:0.0:0.0	.	332;260;246	Q9NYA1-2;Q96GK1;Q9NYA1	.;.;SPHK1_HUMAN	S	246;332;246;245	ENSP00000440970:P246S;ENSP00000313681:P332S;ENSP00000376285:P246S	ENSP00000313681:P332S	P	+	1	0	SPHK1	71894843	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	4.543000	0.60684	2.346000	0.79739	0.563000	0.77884	CCC	SPHK1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450113.1		+	ENST00000545180.1	Missense_Mutation	SNP	17 : 74383248 - 74383248 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	145	20
ZSCAN25	221785	broad.mit.edu	37	7	99227162	99227162	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99227162C>A	ENST00000394152.2	+	8	1481	c.1154C>A	c.(1153-1155)aCc>aAc	p.T385N	ZSCAN25_ENST00000262941.6_Missense_Mutation_p.T313N|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.T385N|ZSCAN25_ENST00000466948.1_Intron	NM_145115.2	NP_660090.2			zinc finger and SCAN domain containing 25	NA											NA						AAGGGCTTTACCCTGAGAGAA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	75	76			NA	NA	7		NA											NA				99227162		2203	4300	6503	SO:0001583	missense			AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037	221785	221785		-, Zinc fingers, C2H2-type	21961	protein-coding gene	gene with protein product			zinc finger protein 498	ZNF498	NA	11179890	Standard	NM_145115	XM_005250194	NA	Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.1154C>A	7.37:g.99227162C>A	ENSP00000377708:p.Thr385Asn	NA		37	CCDS5671.2	.	.	.	.	.	.	.	.	.	.	C	11.00	1.509861	0.27036	.	.	ENSG00000197037	ENST00000394152;ENST00000334715;ENST00000262941	T;T;T	0.15603	2.41;2.41;2.41	3.93	3.01	0.34805	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.299373	0.24262	N	0.040068	T	0.11537	0.0281	L	0.38953	1.18	0.09310	N	1	B;B	0.29716	0.255;0.165	B;B	0.25759	0.063;0.043	T	0.24333	-1.0163	10	0.16420	T	0.52	-5.4068	10.2328	0.43264	0.0:0.6051:0.3949:0.0	.	313;385	Q6NSZ9-2;Q6NSZ9	.;ZN498_HUMAN	N	385;385;313	ENSP00000377708:T385N;ENSP00000334800:T385N;ENSP00000262941:T313N	ENSP00000262941:T313N	T	+	2	0	ZNF498	99065098	0.000000	0.05858	0.070000	0.20053	0.992000	0.81027	-2.244000	0.01193	1.168000	0.42723	0.561000	0.74099	ACC	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157203.4		+	ENST00000394152.2	Missense_Mutation	SNP	7 : 99227162 - 99227162 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	424	79
FBN1	2200	broad.mit.edu	37	15	48787772	48787772	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48787772G>A	ENST00000316623.5	-	21	2888	c.2433C>T	c.(2431-2433)tgC>tgT	p.C811C		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	811	EGF-like 13; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GACTTGATTCGCATTCATCAA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM042037	FBN1	M							168	182	178			NA	NA	15		NA											NA				48787772		2197	4296	6493	SO:0001819	synonymous_variant			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147	2200	2200			3603	protein-coding gene	gene with protein product	Marfan syndrome	134797	fibrillin 1 (Marfan syndrome)	FBN, MFS1, WMS	NA	10036187, 12525539	Standard		NM_000138	NA	Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.2433C>T	15.37:g.48787772G>A		NA	B2RUU0|Q15972|Q75N87	37	CCDS32232.1																																																																																			FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417355.1		-	ENST00000316623.5	Silent	SNP	15 : 48787772 - 48787772 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1006	161
NGFR	4804	broad.mit.edu	37	17	47590307	47590307	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47590307G>A	ENST00000172229.3	+	6	1345	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	NGFR_ENST00000504201.1_Missense_Mutation_p.R313H|RP5-1029K10.2_ENST00000514506.1_RNA	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	407	Death.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GCCCTGCGCCGCATCCAGCGA	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	15	15			NA	NA	17		NA											NA				47590307		2189	4284	6473	SO:0001583	missense			M14764	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300	4804	4804		Tumor necrosis factor receptor superfamily, CD molecules	7809	protein-coding gene	gene with protein product	low affinity nerve growth factor receptor, TNFR superfamily, member 16	162010	nerve growth factor receptor (TNFR superfamily, member 16)		NA	3022937, 3006050	Standard		NM_002507	NA	Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	P08138	OTTHUMG00000161495	ENST00000172229.3:c.1220G>A	17.37:g.47590307G>A	ENSP00000172229:p.Arg407His	NA	B2R961	37	CCDS11549.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683884	0.88639	.	.	ENSG00000064300	ENST00000172229;ENST00000504201	D;D	0.85484	-1.99;-1.99	4.55	3.56	0.40772	Death (3);DEATH-like (2);	0.583643	0.16384	N	0.216771	D	0.83820	0.5337	L	0.33485	1.01	0.38279	D	0.942384	D	0.71674	0.998	P	0.61533	0.89	T	0.82532	-0.0410	10	0.42905	T	0.14	-40.3266	5.5062	0.16856	0.2816:0.0:0.7184:0.0	.	407	P08138	TNR16_HUMAN	H	407;313	ENSP00000172229:R407H;ENSP00000421731:R313H	ENSP00000172229:R407H	R	+	2	0	NGFR	44945306	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.814000	0.48010	2.233000	0.73108	0.561000	0.74099	CGC	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365150.1		+	ENST00000172229.3	Missense_Mutation	SNP	17 : 47590307 - 47590307 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	188	27
POLG	5428	broad.mit.edu	37	15	89872050	89872050	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89872050C>T	ENST00000268124.5	-	5	1369	c.1036G>A	c.(1036-1038)Gac>Aac	p.D346N	POLG_ENST00000442287.2_Missense_Mutation_p.D346N	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	346					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TCCAGCCAGTCCCAGGATGAG	0.582		NA						DNA polymerases (catalytic subunits)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(73;648 1203 11348 18386 27782)							NA				0													56	56	56			NA	NA	15		NA											NA				89872050		2200	4299	6499	SO:0001583	missense			X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521	5428	5428		DNA polymerases	9179	protein-coding gene	gene with protein product		174763			NA	9465903	Standard	NM_002693	NM_002693	NA	Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.1036G>A	15.37:g.89872050C>T	ENSP00000268124:p.Asp346Asn	NA	Q8NFM2|Q92515	37	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	C	34	5.316201	0.95655	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.99376	-5.79;-5.79	5.53	5.53	0.82687	Ribonuclease H-like (1);	0.041214	0.85682	D	0.000000	D	0.99199	0.9722	M	0.73598	2.24	0.80722	D	1	D	0.71674	0.998	D	0.63381	0.914	D	0.99924	1.1273	10	0.16896	T	0.51	-35.7266	19.6556	0.95837	0.0:1.0:0.0:0.0	.	346	P54098	DPOG1_HUMAN	N	346	ENSP00000268124:D346N;ENSP00000399851:D346N	ENSP00000268124:D346N	D	-	1	0	POLG	87673054	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.651000	0.83577	2.882000	0.98803	0.655000	0.94253	GAC	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000312854.2		-	ENST00000268124.5	Missense_Mutation	SNP	15 : 89872050 - 89872050 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	440	78
TUBB3	10381	broad.mit.edu	37	16	90001610	90001610	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90001610C>T	ENST00000556922.1	+	5	1886	c.1792C>T	c.(1792-1794)Cgc>Tgc	p.R598C	TUBB3_ENST00000554444.1_Missense_Mutation_p.R179C|TUBB3_ENST00000304984.5_Missense_Mutation_p.R179C|TUBB3_ENST00000315491.7_Missense_Mutation_p.R251C|TUBB3_ENST00000555576.1_Intron			Q13509	TBB3_HUMAN	tubulin, beta 3 class III	251					'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)		CGCTGACCTGCGCAAGCTGGC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	42	43			NA	NA	16		NA											NA				90001610		2198	4300	6498	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.1792C>T	16.37:g.90001610C>T	ENSP00000451560:p.Arg598Cys	NA	Q9BTZ0|Q9BW10	37		.	.	.	.	.	.	.	.	.	.	C	13.71	2.317313	0.40996	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258947;ENSG00000198211;ENSG00000198211;ENSG00000198211	ENST00000556922;ENST00000555399;ENST00000304984;ENST00000555810;ENST00000554444;ENST00000315491	D;D;T;D;D	0.84873	-1.91;-1.91;-1.0;-1.91;-1.91	4.67	4.67	0.58626	Tubulin/FtsZ, 2-layer sandwich domain (1);Tubulin/FtsZ, GTPase domain (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.64402	D	0.000019	D	0.93926	0.8056	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95181	0.8299	9	.	.	.	.	17.5189	0.87782	0.0:1.0:0.0:0.0	.	251;251	Q13509;B2RBD5	TBB3_HUMAN;.	C	598;251;179;179;179;251	ENSP00000451560:R598C;ENSP00000302777:R179C;ENSP00000450538:R179C;ENSP00000451617:R179C;ENSP00000320295:R251C	.	R	+	1	0	RP11-566K11.2;TUBB3	88529111	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	2.385000	0.44371	2.316000	0.78162	0.407000	0.27541	CGC	TUBB3-001	NOVEL	basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000412002.1		+	ENST00000556922.1	Missense_Mutation	SNP	16 : 90001610 - 90001610 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	501	131
GOLPH3	64083	broad.mit.edu	37	5	32126532	32126532	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32126532T>G	ENST00000265070.6	-	4	998	c.683A>C	c.(682-684)gAc>gCc	p.D228A		NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	228					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						GCGGTGAGGGTCATTCACCCA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													189	170	177			NA	NA	5		NA											NA				32126532		2203	4300	6503	SO:0001583	missense			AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384	64083	64083			15452	protein-coding gene	gene with protein product	golgi peripheral membrane protein 1, 34 kDa, golgi protein, coat-protein, golgi-associated protein	612207			NA	11042173, 16263763	Standard	NM_022130	NM_022130	NA	Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.683A>C	5.37:g.32126532T>G	ENSP00000265070:p.Asp228Ala	NA	Q9UIW5	37	CCDS3896.1	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834356	0.50951	.	.	ENSG00000113384	ENST00000265070;ENST00000542582	.	.	.	6.16	6.16	0.99307	.	0.086647	0.85682	D	0.000000	T	0.79028	0.4377	M	0.90082	3.085	0.80722	D	1	P	0.49783	0.928	P	0.53266	0.722	T	0.82127	-0.0611	9	0.49607	T	0.09	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	228	Q9H4A6	GOLP3_HUMAN	A	228;211	.	ENSP00000265070:D228A	D	-	2	0	GOLPH3	32162289	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	7.649000	0.83500	2.367000	0.80283	0.528000	0.53228	GAC	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207363.2		-	ENST00000265070.6	Missense_Mutation	SNP	5 : 32126532 - 32126532 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	694	146
RNF10	9921	broad.mit.edu	37	12	120984244	120984244	+	Missense_Mutation	SNP	G	G	A	rs111483466		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120984244G>A	ENST00000325954.4	+	2	655	c.194G>A	c.(193-195)cGc>cAc	p.R65H	RNF10_ENST00000413266.2_Missense_Mutation_p.R65H	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	65	Ser-rich.				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGTTATAATCGCAAACGTGAA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	114	114			NA	NA	12		NA											NA				120984244		2203	4300	6503	SO:0001583	missense			AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840	9921	9921		RING-type (C3HC4) zinc fingers	10055	protein-coding gene	gene with protein product					NA		Standard		NM_014868	NA	Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.194G>A	12.37:g.120984244G>A	ENSP00000322242:p.Arg65His	NA	Q92550|Q9NPP8|Q9ULW4	37	CCDS9201.1	.	.	.	.	.	.	.	.	.	.	G	34	5.322463	0.95708	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266;ENST00000537997	D;D	0.91295	-2.8;-2.82	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.95357	0.8493	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95555	0.8624	10	0.62326	D	0.03	.	18.7237	0.91705	0.0:0.0:1.0:0.0	.	65	Q8N5U6	RNF10_HUMAN	H	65;65;65;15	ENSP00000322242:R65H;ENSP00000415682:R65H	ENSP00000322242:R65H	R	+	2	0	RNF10	119468627	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.049000	0.93837	2.479000	0.83701	0.655000	0.94253	CGC	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401898.4		+	ENST00000325954.4	Missense_Mutation	SNP	12 : 120984244 - 120984244 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	437	108
SERINC4	619189	broad.mit.edu	37	15	44088365	44088365	+	Translation_Start_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44088365G>A	ENST00000299969.6	-	7	1050	c.905C>T	c.(904-906)gCt>gTt	p.A302V	SERF2_ENST00000409291.1_Intron|SERF2_ENST00000409646.1_Intron|SERINC4_ENST00000319327.6_Silent_p.S376S|SERINC4_ENST00000249714.3_Silent_p.S132S|RP11-296A16.1_ENST00000417761.2_3'UTR|HYPK_ENST00000406925.1_De_novo_Start_OutOfFrame|SERF2_ENST00000594896.1_Intron			A6NH21	SERC4_HUMAN	serine incorporator 4	0					phospholipid biosynthetic process	integral to membrane				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	6		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;7.81e-07)		GAAACTCATAGCTGTAAACCT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	113	114			NA	NA	15		NA											NA				44088365		2198	4298	6496	SO:0001583	missense			DQ103711	CCDS58360.1	15q15.3	2013-09-25			ENSG00000184716	ENSG00000184716	619189	619189			32237	protein-coding gene	gene with protein product		614550			NA		Standard		NM_001258031	NA	Approved	FLJ40363	uc031qrp.1	A6NH21	OTTHUMG00000060144	ENST00000299969.6:c.905C>T	15.37:g.44088365G>A	ENSP00000299969:p.Ala302Val	NA	B2RN41|Q3YL75	37		.	.	.	.	.	.	.	.	.	.	G	12.24	1.877537	0.33162	.	.	ENSG00000184716	ENST00000299969	T	0.26518	1.73	5.7	3.78	0.43462	.	.	.	.	.	T	0.11410	0.0278	.	.	.	0.80722	D	1	B	0.31077	0.307	B	0.28991	0.097	T	0.09618	-1.0666	8	0.02654	T	1	1.8637	10.4519	0.44526	0.0:0.2839:0.5776:0.1386	.	302	A6NM42	.	V	302	ENSP00000299969:A302V	ENSP00000299969:A302V	A	-	2	0	SERINC4	41875657	1.000000	0.71417	0.996000	0.52242	0.817000	0.46193	1.138000	0.31491	0.711000	0.32018	0.655000	0.94253	GCT	SERINC4-004	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000133488.1		-	ENST00000299969.6	Missense_Mutation	SNP	15 : 44088365 - 44088365 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	431	61
PTPRD	5789	broad.mit.edu	37	9	8636839	8636839	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:8636839G>A	ENST00000381196.4	-	10	613	c.70C>T	c.(70-72)Cca>Tca	p.P24S	PTPRD_ENST00000356435.5_Missense_Mutation_p.P24S|PTPRD_ENST00000355233.5_Missense_Mutation_p.P24S|PTPRD_ENST00000397617.3_Missense_Mutation_p.P24S|PTPRD_ENST00000358503.5_Missense_Mutation_p.P24S|PTPRD_ENST00000360074.4_Missense_Mutation_p.P24S|PTPRD_ENST00000463477.1_Missense_Mutation_p.P24S|PTPRD_ENST00000537002.1_Missense_Mutation_p.P24S|PTPRD_ENST00000540109.1_Missense_Mutation_p.P24S|PTPRD_ENST00000397606.3_Missense_Mutation_p.P24S|PTPRD_ENST00000486161.1_Missense_Mutation_p.P24S|PTPRD_ENST00000397611.3_Missense_Mutation_p.P24S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	24	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTAAACCTTGGAGGTGCTGAA	0.458		NA								TSP Lung(15;0.13)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	63	62			NA	NA	9		NA											NA				8636839		2203	4300	6503	SO:0001583	missense			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707	5789	5789		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	9668	protein-coding gene	gene with protein product		601598			NA	7896816, 8355697	Standard		NM_002839	NA	Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.70C>T	9.37:g.8636839G>A	ENSP00000370593:p.Pro24Ser	NA	B1ALA0	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013073	0.93346	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606;ENST00000463477;ENST00000481079	D;D;D;D;D;D;D;D;D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44	5.84	5.84	0.93424	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96153	0.8746	M	0.92738	3.34	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;1.0;0.997;0.999;1.0;0.997;1.0	D	0.96334	0.9246	9	.	.	.	.	20.1535	0.98095	0.0:0.0:1.0:0.0	.	24;24;24;24;24;24;24;24;24;24	C9J8S8;Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;.;PTPRD_HUMAN	S	24	ENSP00000370593:P24S;ENSP00000348812:P24S;ENSP00000353187:P24S;ENSP00000351293:P24S;ENSP00000347373:P24S;ENSP00000380741:P24S;ENSP00000380735:P24S;ENSP00000440515:P24S;ENSP00000438164:P24S;ENSP00000417093:P24S;ENSP00000380731:P24S;ENSP00000417661:P24S;ENSP00000417890:P24S	.	P	-	1	0	PTPRD	8626839	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.782000	0.99034	2.764000	0.94973	0.650000	0.86243	CCA	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055395.3		-	ENST00000381196.4	Missense_Mutation	SNP	9 : 8636839 - 8636839 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	448	65
RPS6KA5	9252	broad.mit.edu	37	14	91360773	91360773	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91360773C>A	ENST00000261991.3	-	13	1801	c.1628G>T	c.(1627-1629)aGg>aTg	p.R543M	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.R464M|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.R543M	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	543	Protein kinase 2.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|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	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TTTCAGATCCCTGTGCACCAC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	115	122			NA	NA	14		NA											NA				91360773		2203	4300	6503	SO:0001583	missense			AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784	9252	9252			10434	protein-coding gene	gene with protein product		603607	ribosomal protein S6 kinase, 90kD, polypeptide 5		NA	9687510, 10702687	Standard	NM_004755	NM_004755	NA	Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.1628G>T	14.37:g.91360773C>A	ENSP00000261991:p.Arg543Met	NA	O95316|Q96AF7	37	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979109	0.74360	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.66099	-0.19;-0.19;-0.19	5.66	5.66	0.87406	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86719	0.6000	H	0.96015	3.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.90434	0.4426	10	0.87932	D	0	.	19.7559	0.96291	0.0:1.0:0.0:0.0	.	543;543	O75582-2;O75582	.;KS6A5_HUMAN	M	543;464;543	ENSP00000261991:R543M;ENSP00000442803:R464M;ENSP00000402787:R543M	ENSP00000261991:R543M	R	-	2	0	RPS6KA5	90430526	1.000000	0.71417	0.987000	0.45799	0.533000	0.34776	7.818000	0.86416	2.656000	0.90262	0.655000	0.94253	AGG	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411442.2		-	ENST00000261991.3	Missense_Mutation	SNP	14 : 91360773 - 91360773 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	519	29
STMN2	11075	broad.mit.edu	37	8	80549083	80549083	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:80549083C>T	ENST00000518111.1	+	2	110	c.66C>T	c.(64-66)tgC>tgT	p.C22C	STMN2_ENST00000220876.7_Silent_p.C22C|STMN2_ENST00000518491.1_Silent_p.C11C			Q93045	STMN2_HUMAN	stathmin 2	22	Membrane attachment (Potential).				intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			CACTGATCTGCTCTTGCTTTT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	111	114			NA	NA	8		NA											NA				80549083		1923	4156	6079	SO:0001819	synonymous_variant				CCDS43748.1, CCDS56542.1	8q21.13	2014-04-01	2014-04-01	2001-07-13	ENSG00000104435	ENSG00000104435	11075	11075			10577	protein-coding gene	gene with protein product		600621	stathmin-like 2	SCGN10	NA	8622778, 12140291	Standard	NM_007029	NM_007029	NA	Approved	SCG10	uc022awk.1	Q93045	OTTHUMG00000164610	ENST00000518111.1:c.66C>T	8.37:g.80549083C>T		NA	A8K9M2|O14952|Q6PK68	37	CCDS56542.1																																																																																			STMN2-008	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379266.1		+	ENST00000518111.1	Silent	SNP	8 : 80549083 - 80549083 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	508	92
KIAA0391	9692	broad.mit.edu	37	14	35593373	35593373	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35593373C>T	ENST00000557565.1	+	2	1303	c.922C>T	c.(922-924)Cta>Tta	p.L308L	KIAA0391_ENST00000604948.1_Silent_p.L213L|KIAA0391_ENST00000534898.4_Silent_p.L308L|KIAA0391_ENST00000603544.1_Silent_p.L308L|KIAA0391_ENST00000321130.10_Silent_p.L308L|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000250377.7_Silent_p.L213L	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	308					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		TCTTTCATATCTAAGAAATAA	0.279		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	33	32			NA	NA	14		NA											NA				35593373		2170	4274	6444	SO:0001819	synonymous_variant			AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890	9692	9692			19958	protein-coding gene	gene with protein product	mitochondrial RNase P subunit 3, proteinaceous RNase P	609947			NA	9205841, 18984158	Standard	NM_014672	NM_001256678	NA	Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.922C>T	14.37:g.35593373C>T		NA	B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	37	CCDS32063.1																																																																																			KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000411280.1		+	ENST00000557565.1	Silent	SNP	14 : 35593373 - 35593373 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	260	51
TTN	7273	broad.mit.edu	37	2	179647028	179647028	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179647028C>A	ENST00000589042.1	-	20	3515	c.3291G>T	c.(3289-3291)ggG>ggT	p.G1097G	TTN_ENST00000360870.5_Silent_p.G1097G|TTN_ENST00000342992.6_Silent_p.G1097G|TTN_ENST00000591111.1_Silent_p.G1097G|TTN_ENST00000342175.6_Silent_p.G1051G|TTN_ENST00000359218.5_Silent_p.G1051G|TTN_ENST00000460472.2_Silent_p.G1051G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1097	Ig-like 4.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACACCACGCTCCCACCTTCCA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	74	75			NA	NA	2		NA											NA				179647028		2203	4300	6503	SO:0001819	synonymous_variant			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.3291G>T	2.37:g.179647028C>A		NA	E7ET18	37	CCDS59435.1																																																																																			TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Silent	SNP	2 : 179647028 - 179647028 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	438	76
TAF6L	10629	broad.mit.edu	37	11	62549768	62549768	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62549768C>T	ENST00000294168.3	+	8	991	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	264					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						CTGGACTCTGCGGGATGGGGC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	70	68			NA	NA	11		NA											NA				62549768		2201	4299	6500	SO:0001583	missense			BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227	10629	10629			17305	protein-coding gene	gene with protein product		602946	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD		NA	9674425	Standard	NM_006473	NM_006473	NA	Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.790C>T	11.37:g.62549768C>T	ENSP00000294168:p.Arg264Trp	NA	B2RAT0|Q96HA6	37	CCDS8035.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945740	0.73672	.	.	ENSG00000162227	ENST00000294168	T	0.72505	-0.66	5.4	2.4	0.29515	Domain of unknown function DUF1546 (1);	0.000000	0.85682	D	0.000000	D	0.84424	0.5469	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85562	0.1228	10	0.87932	D	0	-13.2784	12.6043	0.56514	0.4334:0.5666:0.0:0.0	.	264	Q9Y6J9	TAF6L_HUMAN	W	264	ENSP00000294168:R264W	ENSP00000294168:R264W	R	+	1	2	TAF6L	62306344	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	1.261000	0.32980	0.352000	0.24053	0.561000	0.74099	CGG	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395352.1		+	ENST00000294168.3	Missense_Mutation	SNP	11 : 62549768 - 62549768 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	683	126
C1orf141	400757	broad.mit.edu	37	1	67559028	67559028	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67559028G>A	ENST00000371007.2	-	8	972	c.863C>T	c.(862-864)gCg>gTg	p.A288V	C1orf141_ENST00000371006.1_Missense_Mutation_p.A288V|C1orf141_ENST00000544837.1_Missense_Mutation_p.A288V	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	288										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TGTGTGGCCCGCTTTAAAAGA	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	90	90			NA	NA	1		NA											NA				67559028		2203	4299	6502	SO:0001583	missense			BC090886	CCDS30745.1, CCDS72804.1	1p31.2	2012-07-23			ENSG00000203963	ENSG00000203963	400757	400757			32044	protein-coding gene	gene with protein product					NA		Standard	NM_001013674	NM_001276351	NA	Approved		uc001ddm.2	Q5JVX7	OTTHUMG00000009406	ENST00000371007.2:c.863C>T	1.37:g.67559028G>A	ENSP00000360046:p.Ala288Val	NA	Q0P5P5|Q5JVX5	37	CCDS30745.1	.	.	.	.	.	.	.	.	.	.	G	0.326	-0.958916	0.02267	.	.	ENSG00000203963	ENST00000371007;ENST00000371006;ENST00000544837	T;T;T	0.25250	1.81;1.81;1.81	4.86	-4.35	0.03656	.	3.875600	0.00807	N	0.001460	T	0.01730	0.0055	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15723	-1.0427	10	0.02654	T	1	4.6833	3.9217	0.09247	0.4152:0.0:0.3258:0.2589	.	288	Q5JVX7	CA141_HUMAN	V	288	ENSP00000360046:A288V;ENSP00000360045:A288V;ENSP00000444018:A288V	ENSP00000360045:A288V	A	-	2	0	C1orf141	67331616	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.590000	0.05760	-0.927000	0.03766	-1.456000	0.01031	GCG	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026096.2		-	ENST00000371007.2	Missense_Mutation	SNP	1 : 67559028 - 67559028 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	555	57
C12orf55	0	broad.mit.edu	37	12	97147575	97147575	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:97147575A>C	ENST00000524981.4	+	56	7762	c.7739A>C	c.(7738-7740)aAg>aCg	p.K2580T							NA											NA						GACCCCTCGAAGTGGTTACCT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	120	122			NA	NA	12		NA											NA				97147575		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000524981.4:c.7739A>C	12.37:g.97147575A>C	ENSP00000431759:p.Lys2580Thr	NA		37		.	.	.	.	.	.	.	.	.	.	A	14.26	2.483627	0.44147	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	4.77	4.77	0.60923	.	0.329749	0.28946	N	0.013636	T	0.39572	0.1083	L	0.60455	1.87	0.28229	N	0.926183	P	0.44429	0.835	B	0.41894	0.369	T	0.42799	-0.9430	9	0.46703	T	0.11	-6.1197	9.2436	0.37511	0.839:0.0:0.0:0.161	.	1005	Q6ZTY8	CL063_HUMAN	T	2580;1005	.	ENSP00000345466:K1005T	K	+	2	0	C12orf63	95671706	0.822000	0.29219	0.920000	0.36463	0.326000	0.28443	2.435000	0.44811	1.910000	0.55303	0.379000	0.24179	AAG	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000395046.4		+	ENST00000524981.4	Missense_Mutation	SNP	12 : 97147575 - 97147575 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	554	95
GLP2R	9340	broad.mit.edu	37	17	9745927	9745927	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9745927G>T	ENST00000262441.5	+	4	1011	c.498G>T	c.(496-498)aaG>aaT	p.K166N	GLP2R_ENST00000574745.1_5'UTR	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	166					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	ACAGCTTCAAGCAAAACGTGA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	84	91			NA	NA	17		NA											NA				9745927		2203	4300	6503	SO:0001583	missense			AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325	9340	9340		GPCR / Class B : Glucagon receptors	4325	protein-coding gene	gene with protein product		603659			NA	9990065	Standard		NM_004246	NA	Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.498G>T	17.37:g.9745927G>T	ENSP00000262441:p.Lys166Asn	NA	Q4VAT3	37	CCDS11150.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.26|12.26	1.886026|1.886026	0.33348|0.33348	.|.	.|.	ENSG00000065325|ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441|ENST00000458005	T|.	0.37058|.	1.22|.	5.06|5.06	-3.89|-3.89	0.04193|0.04193	.|.	0.382542|.	0.19105|.	N|.	0.122616|.	T|T	0.30198|0.30198	0.0757|0.0757	L|L	0.47716|0.47716	1.5|1.5	0.18873|0.18873	N|N	0.999983|0.999983	B|.	0.10296|.	0.003|.	B|.	0.10450|.	0.005|.	T|T	0.32322|0.32322	-0.9911|-0.9911	10|5	0.30854|.	T|.	0.27|.	.|.	1.3143|1.3143	0.02104|0.02104	0.404:0.2461:0.2295:0.1204|0.404:0.2461:0.2295:0.1204	.|.	166|.	O95838|.	GLP2R_HUMAN|.	N|I	166;141;166|19	ENSP00000262441:K166N|.	ENSP00000262441:K166N|.	K|S	+|+	3|2	2|0	GLP2R|GLP2R	9686652|9686652	0.458000|0.458000	0.25760|0.25760	0.001000|0.001000	0.08648|0.08648	0.961000|0.961000	0.63080|0.63080	0.511000|0.511000	0.22739|0.22739	-0.874000|-0.874000	0.04027|0.04027	-0.181000|-0.181000	0.13052|0.13052	AAG|AGC	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252601.4		+	ENST00000262441.5	Missense_Mutation	SNP	17 : 9745927 - 9745927 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	70
FIP1L1	81608	broad.mit.edu	37	4	54265951	54265951	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54265951A>C	ENST00000507166.1	+	10	760	c.760A>C	c.(760-762)Aaa>Caa	p.K254Q	FIP1L1_ENST00000337488.6_Missense_Mutation_p.K254Q|FIP1L1_ENST00000306932.6_Missense_Mutation_p.K216Q|FIP1L1_ENST00000507922.1_Missense_Mutation_p.K239Q|FIP1L1_ENST00000358575.5_Missense_Mutation_p.K239Q			Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	254	Necessary for stimulating PAPOLA activity.				mRNA processing	nucleus	RNA binding			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TCCATCTACAAAAGCTGAGTT	0.388		NA	T	PDGFRA	idiopathic hypereosinophilic syndrome									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		4	4q12	81608	FIP1 like 1 (S. cerevisiae)		L	0													170	165	167			NA	NA	4		NA											NA				54265951		2203	4300	6503	SO:0001583	missense			AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216	81608	81608			19124	protein-coding gene	gene with protein product		607686	FIP1 like 1 (S. cerevisiae), FIP1L1 cleavage and polyadenylation specific factor subunit		NA	11230166, 14749727	Standard	NM_030917	NM_030917	NA	Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000507166.1:c.760A>C	4.37:g.54265951A>C	ENSP00000423325:p.Lys254Gln	NA	Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	37		.	.	.	.	.	.	.	.	.	.	A	25.2	4.609676	0.87258	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000507922;ENST00000306932;ENST00000507166	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.60547	0.2277	L	0.48642	1.525	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.989;0.999;1.0	D;D;D;D;D;D	0.91635	0.998;0.997;0.996;0.985;0.997;0.999	T	0.54629	-0.8265	10	0.20046	T	0.44	-23.9796	15.6962	0.77502	1.0:0.0:0.0:0.0	.	239;58;239;216;254;239	G3XAD6;B4DTW7;B4DIR3;Q6UN15-3;Q6UN15;Q6UN15-4	.;.;.;.;FIP1_HUMAN;.	Q	254;239;239;216;254	ENSP00000336752:K254Q;ENSP00000351383:K239Q;ENSP00000425456:K239Q;ENSP00000302993:K216Q;ENSP00000423325:K254Q	ENSP00000302993:K216Q	K	+	1	0	FIP1L1	53960708	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.641000	0.83368	2.168000	0.68352	0.533000	0.62120	AAA	FIP1L1-005	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000361317.2		+	ENST00000507166.1	Missense_Mutation	SNP	4 : 54265951 - 54265951 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	506	84
DENND1A	57706	broad.mit.edu	37	9	126202642	126202642	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:126202642T>C	ENST00000373624.2	-	19	1686	c.1485A>G	c.(1483-1485)ggA>ggG	p.G495G	DENND1A_ENST00000542603.1_Silent_p.G237G|DENND1A_ENST00000373620.3_Silent_p.G495G|DENND1A_ENST00000373618.1_Silent_p.G463G|DENND1A_ENST00000394215.2_Silent_p.G465G|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Silent_p.G463G	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	495						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TACACACCTGTCCAAAGTGGA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	46	49			NA	NA	9		NA											NA				126202642		2203	4300	6503	SO:0001819	synonymous_variant			AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522	57706	57706		DENN/MADD domain containing	29324	protein-coding gene	gene with protein product		613633	KIAA1608	KIAA1608	NA	10997877	Standard	NM_024820	XM_005252109	NA	Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.1485A>G	9.37:g.126202642T>C		NA	A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	37	CCDS35133.1																																																																																			DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053997.1		-	ENST00000373624.2	Silent	SNP	9 : 126202642 - 126202642 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	248	44
ZFP57	346171	broad.mit.edu	37	6	29640963	29640963	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29640963C>T	ENST00000376883.1	-	6	1276	c.865G>A	c.(865-867)Gcc>Acc	p.A289T	ZFP57_ENST00000488757.1_Missense_Mutation_p.A309T|ZFP57_ENST00000376881.3_Missense_Mutation_p.A289T			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	225					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						TGGCTTCTGGCGATGGGTGTC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	138	135			NA	NA	6		NA											NA				29640963		1213	2525	3738	SO:0001583	missense			AL050328	CCDS43436.1, CCDS43436.2	6p22.1	2013-01-08	2012-11-27	2005-07-20	ENSG00000204644	ENSG00000204644	346171	346171		Zinc fingers, C2H2-type, -	18791	protein-coding gene	gene with protein product		612192	chromosome 6 open reading frame 40, zinc finger protein 57 homolog (mouse)	C6orf40	NA		Standard	XM_294093	NM_001109809	NA	Approved	ZNF698, bA145L22, bA145L22.2	uc011dlw.2	Q9NU63	OTTHUMG00000031158	ENST00000376883.1:c.865G>A	6.37:g.29640963C>T	ENSP00000366080:p.Ala289Thr	NA	B0S894|B0V254|B2RXJ7|Q5SSB1	37		.	.	.	.	.	.	.	.	.	.	C	2.158	-0.392957	0.04899	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.05258	3.47;3.69;3.69	2.51	-4.64	0.03349	.	5.236760	0.00357	N	0.000029	T	0.00754	0.0025	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43637	-0.9379	10	0.59425	D	0.04	4.3909	1.7189	0.02908	0.138:0.4272:0.1366:0.2982	.	309;289	Q9NU63-3;Q9NU63-2	.;.	T	309;289;289	ENSP00000418259:A309T;ENSP00000366078:A289T;ENSP00000366080:A289T	ENSP00000366078:A289T	A	-	1	0	ZFP57	29748942	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-5.236000	0.00139	-1.344000	0.02216	-1.411000	0.01122	GCC	ZFP57-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000132460.2		-	ENST00000376883.1	Missense_Mutation	SNP	6 : 29640963 - 29640963 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	827	163
TTBK2	146057	broad.mit.edu	37	15	43045264	43045264	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43045264C>A	ENST00000267890.6	-	14	2288	c.2180G>T	c.(2179-2181)aGa>aTa	p.R727I		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	727					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CAAATCTGTTCTGCTTCCTCC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	149	150			NA	NA	15		NA											NA				43045264		1887	4105	5992	SO:0001583	missense			AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881	146057	146057			19141	protein-coding gene	gene with protein product		611695	spinocerebellar ataxia 11	SCA11	NA	10048485	Standard	NM_173500	NM_173500	NA	Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.2180G>T	15.37:g.43045264C>A	ENSP00000267890:p.Arg727Ile	NA	O94932|Q6ZN52|Q8IVV1	37	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410801	0.62399	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.39997	1.05	5.66	5.66	0.87406	.	0.103999	0.51477	D	0.000086	T	0.52468	0.1736	L	0.54323	1.7	0.80722	D	1	D;P	0.53462	0.96;0.868	P;B	0.54312	0.748;0.383	T	0.53746	-0.8395	10	0.72032	D	0.01	.	13.9765	0.64277	0.0:0.9278:0.0:0.0722	.	658;727	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	I	727;657;1132	ENSP00000267890:R727I	ENSP00000263802:R1132I	R	-	2	0	TTBK2	40832556	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.964000	0.40462	2.661000	0.90470	0.655000	0.94253	AGA	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000431106.2		-	ENST00000267890.6	Missense_Mutation	SNP	15 : 43045264 - 43045264 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	822	71
ABCB6	10058	broad.mit.edu	37	2	220077786	220077786	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220077786G>A	ENST00000265316.3	-	13	2123	c.1807C>T	c.(1807-1809)Cgg>Tgg	p.R603W	ABCB6_ENST00000439002.2_Splice_Site_p.R557W	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	603	ABC transporter.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGTCTCCCGCCTGCAAGGA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	49	50			NA	NA	2		NA											NA				220077786		2203	4300	6503	SO:0001630	splice_region_variant			AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657	10058	10058		ATP binding cassette transporters / subfamily B	47	protein-coding gene	gene with protein product	ATP-binding cassette half-transporter	605452	ATP-binding cassette, sub-family B (MDR/TAP), member 6		NA	8894702, 9110174	Standard	NM_005689	NM_005689	NA	Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.1806-1C>T	2.37:g.220077786G>A		NA	O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	37	CCDS2436.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165506	0.38217	.	.	ENSG00000115657	ENST00000265316;ENST00000439002	D;D	0.90844	-2.74;-2.74	4.69	2.81	0.32909	ABC transporter-like (1);	0.261056	0.36893	N	0.002359	D	0.91287	0.7253	M	0.81614	2.55	0.80722	D	1	D;D	0.61697	0.989;0.99	P;B	0.47015	0.534;0.43	D	0.90771	0.4672	10	0.87932	D	0	-15.4509	12.1891	0.54257	0.0:0.0:0.3671:0.6329	.	557;603	Q9NP58-4;Q9NP58	.;ABCB6_HUMAN	W	603;557	ENSP00000265316:R603W;ENSP00000394333:R557W	ENSP00000265316:R603W	R	-	1	2	ABCB6	219786030	0.974000	0.33945	0.906000	0.35671	0.279000	0.26890	3.221000	0.51215	0.528000	0.28580	0.655000	0.94253	CGG	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256820.2	Missense_Mutation	-	ENST00000265316.3	Splice_Site	SNP	2 : 220077786 - 220077786 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	136	16
YY1AP1	55249	broad.mit.edu	37	1	155646536	155646536	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155646536A>C	ENST00000359205.5	-	4	352	c.94T>G	c.(94-96)Ttt>Gtt	p.F32V	YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000311573.5_Splice_Site_p.F32V|YY1AP1_ENST00000347088.5_Splice_Site_p.F43V|YY1AP1_ENST00000368340.5_Splice_Site_p.F181V|YY1AP1_ENST00000368330.2_Splice_Site_p.F43V|YY1AP1_ENST00000404643.1_Splice_Site_p.F43V|YY1AP1_ENST00000405763.3_Splice_Site_p.F181V|YY1AP1_ENST00000355499.4_Splice_Site_p.F43V|YY1AP1_ENST00000407221.1_Splice_Site_p.F32V|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000361831.5_Splice_Site_p.F32V|YY1AP1_ENST00000295566.4_Splice_Site_p.F109V|YY1AP1_ENST00000438245.2_Splice_Site_p.F43V|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000368339.5_Splice_Site_p.F181V	NM_001198900.1	NP_001185829.1			YY1 associated protein 1	NA										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AGTTCCTCAAACCTATCCCAA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	112	119			NA	NA	1		NA											NA				155646536		2203	4300	6503	SO:0001630	splice_region_variant			BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374	55249	55249			30935	protein-coding gene	gene with protein product		607860			NA	11710830	Standard	NM_139118	NM_139119	NA	Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000359205.5:c.93-1T>G	1.37:g.155646536A>C		NA		37		.	.	.	.	.	.	.	.	.	.	A	17.55	3.417714	0.62622	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000405763;ENST00000438245;ENST00000443231;ENST00000454523	T;T;T;T;T;T;T;T;T;T;T	0.30714	1.55;1.61;1.59;1.61;1.55;1.52;1.54;1.61;1.59;1.61;1.52	3.78	3.78	0.43462	.	0.216427	0.41823	D	0.000816	T	0.42381	0.1200	M	0.68952	2.095	0.42822	D	0.993996	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999;1.0;0.997	D;D;D;D;D;D;D	0.91635	0.998;0.999;0.991;0.999;0.991;0.998;0.99	T	0.46062	-0.9218	10	0.72032	D	0.01	.	12.3301	0.55035	1.0:0.0:0.0:0.0	.	43;109;181;181;109;43;181	B4DZQ4;B4DQQ0;B4DMP2;B0QZ55;Q9H869;Q9H869-2;Q5VYZ1	.;.;.;.;YYAP1_HUMAN;.;.	V	32;43;32;43;32;181;109;43;32;43;181;181;43;32;43	ENSP00000352134:F32V;ENSP00000347686:F43V;ENSP00000311138:F32V;ENSP00000316079:F43V;ENSP00000355298:F32V;ENSP00000357324:F181V;ENSP00000295566:F109V;ENSP00000357314:F43V;ENSP00000385791:F32V;ENSP00000385390:F43V;ENSP00000357323:F181V	ENSP00000295566:F109V	F	-	1	0	YY1AP1	153913160	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	5.963000	0.70372	1.573000	0.49748	0.374000	0.22700	TTT	YY1AP1-027	PUTATIVE	alternative_5_UTR|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000086021.2	Missense_Mutation	-	ENST00000359205.5	Splice_Site	SNP	1 : 155646536 - 155646536 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	357	47
ATF1	466	broad.mit.edu	37	12	51203316	51203316	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51203316C>A	ENST00000262053.3	+	4	294	c.272C>A	c.(271-273)gCt>gAt	p.A91D	ATF1_ENST00000539132.1_Intron	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1	91					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|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				EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4						GTTTCTGCTGCTGTCACTTCT	0.388		NA	T	EWSR1, FUS	malignant melanoma of soft parts , angiomatoid fibrous histiocytoma 									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		12	12q13	466	activating transcription factor 1		E, M	0													83	87	86			NA	NA	12		NA											NA				51203316		2203	4300	6503	SO:0001583	missense			BC029619	CCDS8803.1	12q13	2014-05-13			ENSG00000123268	ENSG00000123268	466	466		basic leucine zipper proteins	783	protein-coding gene	gene with protein product		123803			NA	8401579	Standard	NM_005171	NM_005171	NA	Approved	TREB36	uc001rww.4	P18846		ENST00000262053.3:c.272C>A	12.37:g.51203316C>A	ENSP00000262053:p.Ala91Asp	NA	P25168|Q9H4A8	37	CCDS8803.1	.	.	.	.	.	.	.	.	.	.	C	5.592	0.293949	0.10567	.	.	ENSG00000123268	ENST00000552510;ENST00000262053;ENST00000552487	T;T;T	0.78003	-1.14;0.45;0.44	.	.	.	.	0.367899	0.30695	N	0.009070	T	0.67776	0.2929	L	0.50333	1.59	0.80722	D	1	B	0.27559	0.181	B	0.25759	0.063	T	0.60409	-0.7269	8	0.56958	D	0.05	-14.0405	.	.	.	.	91	P18846	ATF1_HUMAN	D	91	ENSP00000448592:A91D;ENSP00000262053:A91D;ENSP00000448921:A91D	ENSP00000262053:A91D	A	+	2	0	ATF1	49489583	0.996000	0.38824	0.993000	0.49108	0.975000	0.68041	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	GCT	ATF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404285.1		+	ENST00000262053.3	Missense_Mutation	SNP	12 : 51203316 - 51203316 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	438	78
MX1	4599	broad.mit.edu	37	21	42830566	42830566	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:42830566G>T	ENST00000398600.2	+	19	2895	c.1870G>T	c.(1870-1872)Gac>Tac	p.D624Y	MX1_ENST00000398598.3_Missense_Mutation_p.D624Y|MX1_ENST00000455164.2_Missense_Mutation_p.D624Y|MX1_ENST00000288383.6_Missense_Mutation_p.D601Y	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	624	GED.				induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GCAGGACAAGGACACCTACAG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	108	109			NA	NA	21		NA											NA				42830566		2203	4300	6503	SO:0001583	missense				CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601	4599	4599			7532	protein-coding gene	gene with protein product	interferon-inducible protein p78	147150	myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78), myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)		NA	17570575	Standard		XM_005260979	NA	Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.1870G>T	21.37:g.42830566G>T	ENSP00000381601:p.Asp624Tyr	NA	D3DSI8	37	CCDS13673.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406273	0.83230	.	.	ENSG00000157601	ENST00000398600;ENST00000398598;ENST00000455164;ENST00000288383	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	4.7	4.7	0.59300	GTPase effector domain, GED (1);Dynamin GTPase effector (2);	0.317331	0.36932	N	0.002327	T	0.69904	0.3163	M	0.77616	2.38	0.52501	D	0.99995	D	0.60160	0.987	D	0.63381	0.914	T	0.74334	-0.3699	10	0.87932	D	0	-15.9133	13.8894	0.63729	0.0:0.0:1.0:0.0	.	624	P20591	MX1_HUMAN	Y	624;624;624;601	ENSP00000381601:D624Y;ENSP00000381599:D624Y;ENSP00000410523:D624Y;ENSP00000288383:D601Y	ENSP00000288383:D601Y	D	+	1	0	MX1	41752436	1.000000	0.71417	0.995000	0.50966	0.909000	0.53808	3.882000	0.56160	2.547000	0.85894	0.655000	0.94253	GAC	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195161.2		+	ENST00000398600.2	Missense_Mutation	SNP	21 : 42830566 - 42830566 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	684	136
SMCR8	140775	broad.mit.edu	37	17	18219847	18219847	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18219847C>T	ENST00000406438.3	+	1	1224	c.744C>T	c.(742-744)gaC>gaT	p.D248D		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	248										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						AACATCAAGACCTGCTGAAGC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	56	61			NA	NA	17		NA											NA				18219847		2203	4300	6503	SO:0001819	synonymous_variant			AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994	140775	140775			17921	protein-coding gene	gene with protein product					NA	11997338, 23248642	Standard	NM_144775	NM_144775	NA	Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.744C>T	17.37:g.18219847C>T		NA	A5PKZ5|Q3ZCN0|Q6PJL3	37	CCDS11195.2																																																																																			SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132065.2		+	ENST00000406438.3	Silent	SNP	17 : 18219847 - 18219847 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	242	37
PATZ1	23598	broad.mit.edu	37	22	31731752	31731752	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31731752C>T	ENST00000266269.5	-	3	2062	c.1433G>A	c.(1432-1434)cGg>cAg	p.R478Q	RP3-400N23.6_ENST00000440456.1_RNA|PATZ1_ENST00000405309.3_Missense_Mutation_p.R478Q|PATZ1_ENST00000351933.4_Missense_Mutation_p.R478Q|RP3-400N23.6_ENST00000451161.1_RNA	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	478					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						GTATGCTGCCCGCAAGTACTT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	104	108			NA	NA	22		NA											NA				31731752		2203	4300	6503	SO:0001583	missense			AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105	23598	23598		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	13071	protein-coding gene	gene with protein product		605165	zinc finger protein 278	ZNF278	NA	10591208, 18241078, 18401526	Standard	NM_032052	NM_014323	NA	Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.1433G>A	22.37:g.31731752C>T	ENSP00000266269:p.Arg478Gln	NA	Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	37	CCDS13894.1	.	.	.	.	.	.	.	.	.	.	C	34	5.374162	0.95923	.	.	ENSG00000100105	ENST00000266269;ENST00000405309;ENST00000351933	T;T;T	0.11169	4.68;2.8;2.85	5.33	5.33	0.75918	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.21267	0.0512	L	0.31578	0.945	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.75484	0.979;0.986;0.979	T	0.06303	-1.0834	10	0.15952	T	0.53	-17.0252	18.0252	0.89266	0.0:1.0:0.0:0.0	.	478;478;478	Q9HBE1-3;Q9HBE1;Q9HBE1-2	.;PATZ1_HUMAN;.	Q	478	ENSP00000266269:R478Q;ENSP00000384173:R478Q;ENSP00000337520:R478Q	ENSP00000266269:R478Q	R	-	2	0	PATZ1	30061752	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.504000	0.84457	0.563000	0.77884	CGG	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321932.1		-	ENST00000266269.5	Missense_Mutation	SNP	22 : 31731752 - 31731752 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	374	69
ZNF862	643641	broad.mit.edu	37	7	149545235	149545235	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149545235G>A	ENST00000223210.4	+	4	898	c.653G>A	c.(652-654)cGg>cAg	p.R218Q		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GCCCGGTTCCGGAGCATCAGA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	55	54			NA	NA	7		NA											NA				149545235		1949	4152	6101	SO:0001583	missense			AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479	643641	643641		Zinc fingers, C2H2-type, -	34519	protein-coding gene	gene with protein product					NA		Standard	NM_001099220	NM_001099220	NA	Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.653G>A	7.37:g.149545235G>A	ENSP00000223210:p.Arg218Gln	NA	A0AUL8	37	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	G	4.581	0.107865	0.08780	.	.	ENSG00000106479	ENST00000223210	T	0.01043	5.41	5.39	-3.5	0.04710	Zinc finger, TTF-type (1);	1.396590	0.04656	N	0.408112	T	0.00552	0.0018	N	0.00926	-1.1	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48581	-0.9023	10	0.08381	T	0.77	-2.0822	11.3389	0.49520	0.4317:0.0:0.5683:0.0	.	218	O60290	ZN862_HUMAN	Q	218	ENSP00000223210:R218Q	ENSP00000223210:R218Q	R	+	2	0	ZNF862	149176168	0.000000	0.05858	0.005000	0.12908	0.812000	0.45895	-0.803000	0.04540	-0.636000	0.05524	-0.150000	0.13652	CGG	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350165.1		+	ENST00000223210.4	Missense_Mutation	SNP	7 : 149545235 - 149545235 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	252	49
STX4	6810	broad.mit.edu	37	16	31050965	31050965	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31050965C>T	ENST00000394998.1	+	10	1143	c.800C>T	c.(799-801)gCg>gTg	p.A267V	STX4_ENST00000493902.1_3'UTR|STX4_ENST00000313843.3_Missense_Mutation_p.A269V	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN	syntaxin 4	269	Interaction with CENPF (By similarity).				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						CAGAAGAAGGCGAGGAAGGTG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	VAL/ALA	0,4394		0,0,2197	149	128	135		806	6.1	1	16		135	1,8599	1.2+/-3.3	0,1,4299	no	missense	STX4	NM_004604.3	64	0,1,6496	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	269/298	31050965	1,12993	2197	4300	6497	SO:0001583	missense			AF026007	CCDS10700.1, CCDS61916.1	16p11.2	2008-02-05	2006-04-25	2006-04-25	ENSG00000103496	ENSG00000103496	6810	6810			11439	protein-coding gene	gene with protein product		186591	syntaxin 4A (placental)	STX4A	NA	8206394, 16339081	Standard	NM_004604	NM_001272095	NA	Approved	p35-2	uc002eak.4	Q12846	OTTHUMG00000132404	ENST00000394998.1:c.800C>T	16.37:g.31050965C>T	ENSP00000378447:p.Ala267Val	NA	Q15525|Q6FHE8	37		.	.	.	.	.	.	.	.	.	.	C	24.6	4.546054	0.86022	0.0	1.16E-4	ENSG00000103496	ENST00000394998;ENST00000313843	T;T	0.39406	1.08;1.26	6.08	6.08	0.98989	.	0.102174	0.64402	D	0.000002	T	0.51109	0.1655	M	0.81682	2.555	0.46096	D	0.99886	D;D	0.64830	0.993;0.994	B;B	0.42030	0.373;0.198	T	0.60424	-0.7266	10	0.62326	D	0.03	-11.455	19.4349	0.94788	0.0:1.0:0.0:0.0	.	269;267	Q12846;A8MXY0	STX4_HUMAN;.	V	267;269	ENSP00000378447:A267V;ENSP00000317714:A269V	ENSP00000317714:A269V	A	+	2	0	STX4	30958466	1.000000	0.71417	0.989000	0.46669	0.994000	0.84299	5.379000	0.66196	2.894000	0.99253	0.655000	0.94253	GCG	STX4-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000438720.3		+	ENST00000394998.1	Missense_Mutation	SNP	16 : 31050965 - 31050965 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	702	139
TRIOBP	11078	broad.mit.edu	37	22	38120147	38120147	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38120147A>G	ENST00000406386.3	+	7	1839	c.1584A>G	c.(1582-1584)acA>acG	p.T528T		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	528					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ACCCCAGAACATCCTGCGCCC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	104	91			NA	NA	22		NA											NA				38120147		1931	4157	6088	SO:0001819	synonymous_variant			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106	11078	11078		Pleckstrin homology (PH) domain containing	17009	protein-coding gene	gene with protein product		609761		DFNB28	NA	11148140, 16385457, 16385458	Standard		NM_001039141	NA	Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1584A>G	22.37:g.38120147A>G		NA	B1AHD4|B1AHD7|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	37	CCDS43015.1																																																																																			TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319439.2		+	ENST00000406386.3	Silent	SNP	22 : 38120147 - 38120147 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1342	144
PPM1H	57460	broad.mit.edu	37	12	63195669	63195669	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:63195669C>T	ENST00000228705.6	-	3	983	c.683G>A	c.(682-684)cGc>cAc	p.R228H		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	228	PP2C-like.						phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		GGTAAAGAAGCGTGTGGGGGG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	32	31			NA	NA	12		NA											NA				63195669		1894	4092	5986	SO:0001583	missense			AB032983	CCDS44934.1	12q14.1	2012-04-17	2010-03-05	2004-03-26	ENSG00000111110	ENSG00000111110	57460	57460	3.1.3.16	Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent	18583	protein-coding gene	gene with protein product	neurite extension-related protein phosphatase related to PP2C		ras homolog gene family, member C like 1, protein phosphatase 1H (PP2C domain containing)	ARHCL1	NA		Standard	NM_020700	NM_020700	NA	Approved	KIAA1157, FLJ13253, NERPP-2C	uc001srk.3	Q9ULR3	OTTHUMG00000169990	ENST00000228705.6:c.683G>A	12.37:g.63195669C>T	ENSP00000228705:p.Arg228His	NA	B2RXG4|Q6PI86	37	CCDS44934.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295048	0.81025	.	.	ENSG00000111110	ENST00000228705	T	0.25579	1.79	4.36	4.36	0.52297	Protein phosphatase 2C-like (3);	0.000000	0.85682	D	0.000000	T	0.49270	0.1547	M	0.70595	2.14	0.80722	D	1	D	0.71674	0.998	D	0.67725	0.953	T	0.51220	-0.8733	9	.	.	.	4.0024	17.2574	0.87061	0.0:1.0:0.0:0.0	.	228	Q9ULR3	PPM1H_HUMAN	H	228	ENSP00000228705:R228H	.	R	-	2	0	PPM1H	61481936	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	7.050000	0.76620	2.124000	0.65301	0.462000	0.41574	CGC	PPM1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406760.2		-	ENST00000228705.6	Missense_Mutation	SNP	12 : 63195669 - 63195669 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	416	31
PRKD2	25865	broad.mit.edu	37	19	47197201	47197201	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47197201C>T	ENST00000291281.4	-	10	1732	c.1507G>A	c.(1507-1509)Gcc>Acc	p.A503T	PRKD2_ENST00000600194.1_Missense_Mutation_p.A346T|PRKD2_ENST00000433867.1_Missense_Mutation_p.A503T|PRKD2_ENST00000595515.1_Missense_Mutation_p.A503T|PRKD2_ENST00000601806.1_Missense_Mutation_p.A346T			Q9BZL6	KPCD2_HUMAN	protein kinase D2	503	PH.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		TGGCGGATGGCTGTCTCCCAG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	48	48			NA	NA	19		NA											NA				47197201		2203	4298	6501	SO:0001583	missense			AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287	25865	25865		Pleckstrin homology (PH) domain containing	17293	protein-coding gene	gene with protein product		607074			NA	11042152, 11062248	Standard	NM_016457	NM_001079880	NA	Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1507G>A	19.37:g.47197201C>T	ENSP00000291281:p.Ala503Thr	NA	Q8TB08|Q9P0T6|Q9Y3X8	37	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	C	32	5.132859	0.94517	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.25912	1.77;1.77	5.08	5.08	0.68730	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.097594	0.45361	D	0.000367	T	0.41003	0.1140	M	0.70595	2.14	0.58432	D	0.999998	B;B	0.33748	0.423;0.423	B;B	0.43445	0.42;0.42	T	0.32745	-0.9895	10	0.52906	T	0.07	-18.0442	17.6955	0.88281	0.0:1.0:0.0:0.0	.	503;503	E7ER94;Q9BZL6	.;KPCD2_HUMAN	T	503	ENSP00000291281:A503T;ENSP00000393978:A503T	ENSP00000291281:A503T	A	-	1	0	PRKD2	51889041	1.000000	0.71417	0.964000	0.40570	0.994000	0.84299	7.688000	0.84153	2.554000	0.86153	0.555000	0.69702	GCC	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466591.1		-	ENST00000291281.4	Missense_Mutation	SNP	19 : 47197201 - 47197201 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	81
ODF2	4957	broad.mit.edu	37	9	131222946	131222946	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131222946G>A	ENST00000393527.3	+	5	638		c.e5+1		ODF2_ENST00000546203.1_Intron|ODF2_ENST00000393533.2_Intron|ODF2_ENST00000444119.2_Splice_Site|ODF2_ENST00000434106.3_Intron|ODF2_ENST00000604420.1_Intron|ODF2_ENST00000448249.3_Splice_Site|ODF2_ENST00000372807.5_Splice_Site|ODF2_ENST00000372814.3_Intron|ODF2_ENST00000535026.1_Splice_Site|ODF2_ENST00000372791.3_Intron|ODF2_ENST00000351030.3_Splice_Site	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	NA					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CAGCAGCCAGGTAGGAGCATG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	68	74			NA	NA	9		NA											NA				131222946		2203	4300	6503	SO:0001630	splice_region_variant			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811	4957	4957			8114	protein-coding gene	gene with protein product	cancer/testis antigen 134	602015	outer dense fibre of sperm tails 2		NA	9045620, 10072582	Standard		NM_153435	NA	Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000393527.3:c.108+1G>A	9.37:g.131222946G>A		NA	B4DRK4|B4DZ02|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	37		.	.	.	.	.	.	.	.	.	.	G	19.04	3.750841	0.69533	.	.	ENSG00000136811	ENST00000351030;ENST00000303890;ENST00000448249;ENST00000535026;ENST00000421776;ENST00000444119	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.39	0.90479	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ODF2	130262767	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.290000	0.72712	2.759000	0.94783	0.561000	0.74099	.	ODF2-005	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000054443.5	Intron	+	ENST00000393527.3	Splice_Site	SNP	9 : 131222946 - 131222946 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	215	49
SYT15	83849	broad.mit.edu	37	10	46962105	46962105	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46962105C>A	ENST00000374323.4	-	7	1877	c.1290G>T	c.(1288-1290)caG>caT	p.Q430H	SYT15_ENST00000374321.4_Missense_Mutation_p.Q377H|SYT15_ENST00000374325.3_Intron|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000503753.1_Intron			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	NA						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GGCCCAGCTGCTGGCTCTCTG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(57;1152 1428 19651 37745)							NA				0													36	44	41			NA	NA	10		NA											NA				46962105		2120	4239	6359	SO:0001583	missense			AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176	83849	83849		Synaptotagmins	17167	protein-coding gene	gene with protein product		608081			NA	11543631	Standard	NM_031912	NM_031912	NA	Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374323.4:c.1290G>T	10.37:g.46962105C>A	ENSP00000363443:p.Gln430His	NA	A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	37		.	.	.	.	.	.	.	.	.	.	.	12.67	2.007040	0.35415	.	.	ENSG00000204176	ENST00000374330;ENST00000374323;ENST00000374321	T;T	0.70282	-0.47;-0.47	4.71	-3.63	0.04529	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	1.702880	0.02769	N	0.119530	T	0.37758	0.1015	N	0.01257	-0.925	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18618	-1.0331	10	0.44086	T	0.13	.	1.9877	0.03439	0.2809:0.2539:0.3579:0.1073	.	377	Q9BQS2	SYT15_HUMAN	H	216;430;377	ENSP00000363443:Q430H;ENSP00000363441:Q377H	ENSP00000363441:Q377H	Q	-	3	2	SYT15	46382111	0.000000	0.05858	0.000000	0.03702	0.715000	0.41141	-0.361000	0.07612	-0.937000	0.03719	-0.448000	0.05591	CAG	SYT15-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000123282.3		-	ENST00000374323.4	Missense_Mutation	SNP	10 : 46962105 - 46962105 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	295	18
IZUMO4	113177	broad.mit.edu	37	19	2098087	2098087	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2098087G>A	ENST00000395307.2	+	5	999	c.434G>A	c.(433-435)tGc>tAc	p.C145Y	IZUMO4_ENST00000588003.1_Intron|IZUMO4_ENST00000395301.3_Missense_Mutation_p.C145Y	NM_001031735.2	NP_001026905.2	Q1ZYL8	IZUM4_HUMAN	IZUMO family member 4	145						extracellular region				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	6						TGCAACAACTGCACAGACTCG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													192	186	188			NA	NA	19		NA											NA				2098087		2203	4300	6503	SO:0001583	missense			BC014609	CCDS35499.1, CCDS42458.1	19p13.3	2014-02-17	2010-07-29	2010-07-29	ENSG00000099840	ENSG00000099840	113177	113177		-	26950	protein-coding gene	gene with protein product			chromosome 19 open reading frame 36	C19orf36	NA	12975309, 19658160, 22957301	Standard	NM_052878	XM_005259480	NA	Approved		uc002luw.1	Q1ZYL8	OTTHUMG00000141290	ENST00000395307.2:c.434G>A	19.37:g.2098087G>A	ENSP00000378718:p.Cys145Tyr	NA	A7RA94|Q6UXA2|Q96FT6|Q96L02	37	CCDS35499.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571898	0.65765	.	.	ENSG00000099840	ENST00000395307;ENST00000300960;ENST00000395301	T;T;T	0.63096	-0.02;-0.02;-0.02	3.69	3.69	0.42338	.	0.000000	0.40728	N	0.001030	T	0.66287	0.2774	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.70026	-0.4985	10	0.87932	D	0	-29.0525	11.6414	0.51235	0.0:0.0:1.0:0.0	.	145;145	A7RA93;Q1ZYL8	.;IZUM4_HUMAN	Y	192;145;145	ENSP00000378718:C192Y;ENSP00000300960:C145Y;ENSP00000378712:C145Y	ENSP00000300960:C145Y	C	+	2	0	IZUMO4	2049087	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	4.429000	0.59901	1.993000	0.58246	0.561000	0.74099	TGC	IZUMO4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280533.3		+	ENST00000395307.2	Missense_Mutation	SNP	19 : 2098087 - 2098087 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1836	333
DNMBP	23268	broad.mit.edu	37	10	101646207	101646207	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101646207G>T	ENST00000324109.4	-	13	3559	c.3468C>A	c.(3466-3468)aaC>aaA	p.N1156K	DNMBP_ENST00000342239.3_Missense_Mutation_p.N1180K|DNMBP_ENST00000472036.1_5'UTR|DNMBP_ENST00000543621.1_Missense_Mutation_p.N402K|DNMBP_ENST00000540316.1_Missense_Mutation_p.N92K	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1156	BAR.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GGGCCTCATAGTTGTTCCGGG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	121	122			NA	NA	10		NA											NA				101646207		2203	4300	6503	SO:0001583	missense			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554	23268	23268		Rho guanine nucleotide exchange factors	30373	protein-coding gene	gene with protein product	scaffold protein TUBA	611282			NA	10231032, 14506234	Standard	NM_015221	NM_015221	NA	Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.3468C>A	10.37:g.101646207G>T	ENSP00000315659:p.Asn1156Lys	NA	Q8IVY3|Q9Y2L3	37	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620443	0.66787	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000540316	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	5.82	3.96	0.45880	BAR (3);	0.000000	0.52532	D	0.000062	T	0.68256	0.2981	L	0.59436	1.845	0.54753	D	0.999989	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.80764	0.994;0.963;0.994	T	0.62685	-0.6802	10	0.13108	T	0.6	-33.0653	13.1438	0.59450	0.1969:0.0:0.8031:0.0	.	1156;402;1180	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	K	1180;1156;402;402;92	ENSP00000344914:N1180K;ENSP00000315659:N1156K;ENSP00000443657:N402K;ENSP00000443573:N92K	ENSP00000315659:N1156K	N	-	3	2	DNMBP	101636197	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	3.481000	0.53179	0.393000	0.25203	-1.134000	0.01955	AAC	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049832.2		-	ENST00000324109.4	Missense_Mutation	SNP	10 : 101646207 - 101646207 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	727	140
PHACTR4	65979	broad.mit.edu	37	1	28807089	28807089	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28807089G>A	ENST00000373839.3	+	9	1994	c.1733G>A	c.(1732-1734)cGg>cAg	p.R578Q	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.R588Q	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	578							actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		AATGAAATACGGCACCAGATT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													224	206	212			NA	NA	1		NA											NA				28807089		2000	4169	6169	SO:0001583	missense			AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138	65979	65979		Phosphatase and actin regulators	25793	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 124	608726			NA	11483580, 15107502	Standard	NM_023923	NM_023923	NA	Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1733G>A	1.37:g.28807089G>A	ENSP00000362945:p.Arg578Gln	NA	A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	37	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775338	0.90108	.	.	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	T;T	0.39229	1.11;1.09	5.62	4.71	0.59529	.	0.112912	0.64402	D	0.000010	T	0.65144	0.2663	M	0.81341	2.54	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.73708	0.966;0.981	T	0.70389	-0.4885	10	0.72032	D	0.01	-4.0794	13.5134	0.61526	0.075:0.0:0.925:0.0	.	588;578	Q8IZ21-2;Q8IZ21	.;PHAR4_HUMAN	Q	578;588;577	ENSP00000362945:R578Q;ENSP00000362942:R588Q	ENSP00000362942:R588Q	R	+	2	0	PHACTR4	28679676	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.913000	0.87471	1.379000	0.46325	-0.234000	0.12200	CGG	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000009868.4		+	ENST00000373839.3	Missense_Mutation	SNP	1 : 28807089 - 28807089 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	874	77
HERC2	8924	broad.mit.edu	37	15	28377840	28377840	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28377840G>T	ENST00000261609.7	-	80	12475	c.12367C>A	c.(12367-12369)Ctg>Atg	p.L4123M		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4123					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTGTGCCCCAGCCGGCCGTAG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	48	47			NA	NA	15		NA											NA				28377840		2201	4300	6501	SO:0001583	missense			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731	8924	8924			4868	protein-coding gene	gene with protein product		605837	hect domain and RLD 2		NA	9949213	Standard	NM_004667	NM_004667	NA	Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.12367C>A	15.37:g.28377840G>T	ENSP00000261609:p.Leu4123Met	NA	Q86SV7|Q86SV8|Q86SV9|Q86YY3|Q86YY4|Q86YY5|Q86YY6|Q86YY7|Q86YY8|Q86YY9|Q86YZ0|Q86YZ1	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677307	0.68042	.	.	ENSG00000128731	ENST00000261609	D	0.97161	-4.27	4.86	3.94	0.45596	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.167980	0.38381	N	0.001718	D	0.99032	0.9669	H	0.98446	4.235	0.58432	D	0.999999	P	0.51351	0.944	D	0.68353	0.957	D	0.98968	1.0800	10	0.87932	D	0	.	13.7802	0.63079	0.0755:0.0:0.9245:0.0	.	4123	O95714	HERC2_HUMAN	M	4123	ENSP00000261609:L4123M	ENSP00000261609:L4123M	L	-	1	2	HERC2	26051435	1.000000	0.71417	0.998000	0.56505	0.755000	0.42902	4.856000	0.62932	1.168000	0.42723	0.555000	0.69702	CTG	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251358.2		-	ENST00000261609.7	Missense_Mutation	SNP	15 : 28377840 - 28377840 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	540	116
C1orf85	112770	broad.mit.edu	37	1	156263838	156263838	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156263838C>T	ENST00000362007.1	-	4	795	c.769G>A	c.(769-771)Gac>Aac	p.D257N		NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	257					positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					TATTCATCGTCGATGGAGTGC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	113	114			NA	NA	1		NA											NA				156263838		2203	4300	6503	SO:0001583	missense			BC011575	CCDS1139.1, CCDS72947.1, CCDS72948.1, CCDS72949.1	1q22	2014-08-07			ENSG00000198715	ENSG00000198715	112770	112770			29436	protein-coding gene	gene with protein product	kidney lysosomal membrane protein				NA	12975309, 18021396, 19489740	Standard	NM_144580	NM_144580	NA	Approved	MGC31963, NCU-G1	uc001foh.4	Q8WWB7	OTTHUMG00000019789	ENST00000362007.1:c.769G>A	1.37:g.156263838C>T	ENSP00000354553:p.Asp257Asn	NA	A6NH16|B4DJN4|Q5SZX4|Q6UX96|Q8IV07|Q96F65	37	CCDS1139.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063799	0.76187	.	.	ENSG00000198715	ENST00000362007;ENST00000368264	T;T	0.49139	0.79;0.79	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.64371	0.2592	M	0.76328	2.33	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.67948	-0.5538	10	0.87932	D	0	-3.9229	16.9635	0.86279	0.0:1.0:0.0:0.0	.	176;257	Q8WWB7-2;Q8WWB7	.;NCUG1_HUMAN	N	257;171	ENSP00000354553:D257N;ENSP00000357247:D171N	ENSP00000354553:D257N	D	-	1	0	C1orf85	154530462	1.000000	0.71417	0.763000	0.31416	0.327000	0.28475	5.832000	0.69337	2.611000	0.88343	0.462000	0.41574	GAC	C1orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052108.1		-	ENST00000362007.1	Missense_Mutation	SNP	1 : 156263838 - 156263838 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	920	30
ERV3-1	2086	broad.mit.edu	37	7	64452444	64452444	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:64452444C>T	ENST00000394323.2	-	2	1461	c.961G>A	c.(961-963)Gcc>Acc	p.A321T		NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN	endogenous retrovirus group 3, member 1	321						virion				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						agggaagaggcggttagtgtg	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	107	108			NA	NA	7		NA											NA				64452444		1909	4125	6034	SO:0001583	missense			AK295189	CCDS47595.1	7p12-q11	2014-05-02	2011-05-05	2011-05-05	ENSG00000213462	ENSG00000213462	2086	2086			3454	other	endogenous retrovirus		131170	endogenous retroviral sequence 3 (includes zinc finger protein H-plk/HPF9), endogenous retroviral sequence 3	ERV3	NA	2115127, 6495650, 21542922	Standard	NM_001007253	NM_001007253	NA	Approved	H-PLK, HERV-R, ERV-R, envR	uc011kdr.2	Q14264	OTTHUMG00000165023	ENST00000394323.2:c.961G>A	7.37:g.64452444C>T	ENSP00000391594:p.Ala321Thr	NA		37	CCDS47595.1	.	.	.	.	.	.	.	.	.	.	.	6.029	0.373706	0.11409	.	.	ENSG00000213462	ENST00000394323	T	0.21191	2.02	0.109	0.109	0.14578	.	.	.	.	.	T	0.06645	0.0170	N	0.08118	0	0.09310	N	1	P	0.44578	0.838	B	0.26416	0.069	T	0.26395	-1.0104	8	0.44086	T	0.13	.	.	.	.	.	321	Q14264	ENR1_HUMAN	T	321	ENSP00000391594:A321T	ENSP00000391594:A321T	A	-	1	0	ERV3-1	64089879	0.025000	0.19082	0.014000	0.15608	0.015000	0.08874	0.195000	0.17155	0.181000	0.19994	0.184000	0.17185	GCC	ERV3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381468.1		-	ENST00000394323.2	Missense_Mutation	SNP	7 : 64452444 - 64452444 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	288	43
PAPSS2	9060	broad.mit.edu	37	10	89487110	89487110	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:89487110G>A	ENST00000361175.4	+	8	1304	c.935G>A	c.(934-936)gGg>gAg	p.G312E	PAPSS2_ENST00000427144.2_Missense_Mutation_p.G316E|PAPSS2_ENST00000456849.1_Missense_Mutation_p.G317E	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	312					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CGGCTGGAAGGGTGCAGCAAG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	109	119			NA	NA	10		NA											NA				89487110		2203	4300	6503	SO:0001583	missense			AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	9060	9060	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005			NA	9771708	Standard		NM_004670	NA	Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.935G>A	10.37:g.89487110G>A	ENSP00000354436:p.Gly312Glu	NA	Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	37	CCDS7385.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.018327	0.35606	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.19394	2.15;2.15;2.15	5.74	4.74	0.60224	Sulphate adenylyltransferase (2);PUA-like domain (1);	0.136189	0.64402	N	0.000002	T	0.16128	0.0388	L	0.39020	1.185	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.21151	0.033;0.003	T	0.06826	-1.0805	10	0.16420	T	0.52	-21.1853	10.3775	0.44090	0.1616:0.0:0.8384:0.0	.	312;317	O95340;O95340-2	PAPS2_HUMAN;.	E	312;317;316;316	ENSP00000354436:G312E;ENSP00000406157:G317E;ENSP00000397123:G316E	ENSP00000354436:G312E	G	+	2	0	PAPSS2	89477090	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	4.538000	0.60650	1.259000	0.44117	0.561000	0.74099	GGG	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049229.1		+	ENST00000361175.4	Missense_Mutation	SNP	10 : 89487110 - 89487110 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	58
ZNF793	390927	broad.mit.edu	37	19	38028164	38028164	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38028164G>T	ENST00000588578.1	+	0	1522				ZNF793_ENST00000542455.1_Missense_Mutation_p.A202S|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000445217.1_Missense_Mutation_p.A202S|ZNF793_ENST00000587143.1_Missense_Mutation_p.A202S			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCAGAACCCGGCACTTATGTA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(44;400 1431 1499 19093)							NA				0													34	35	35			NA	NA	19		NA											NA				38028164		1879	4110	5989	SO:0001624	3_prime_UTR_variant			AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227	390927	390927		Zinc fingers, C2H2-type, -	33115	protein-coding gene	gene with protein product					NA		Standard	NM_001013659	NM_001013659	NA	Approved		uc010efm.3	Q6ZN11		ENST00000588578.1:c.*754G>T	19.37:g.38028164G>T		NA	Q7Z3Q9	37		.	.	.	.	.	.	.	.	.	.	G	0.010	-1.785053	0.00628	.	.	ENSG00000188227	ENST00000542455;ENST00000418827;ENST00000445217;ENST00000322299	T;T	0.14266	2.52;2.52	4.02	1.7	0.24286	.	0.400235	0.18388	N	0.142751	T	0.04318	0.0119	N	0.04768	-0.165	0.09310	N	1	B	0.25667	0.131	B	0.25140	0.058	T	0.42515	-0.9447	10	0.02654	T	1	.	4.9178	0.13854	0.1195:0.2196:0.6609:0.0	.	202	E9PGN4	.	S	202;202;202;201	ENSP00000444355:A202S;ENSP00000396402:A202S	ENSP00000318811:A201S	A	+	1	0	ZNF793	42720004	0.000000	0.05858	0.078000	0.20375	0.254000	0.26022	-1.219000	0.02973	1.028000	0.39785	0.643000	0.83706	GCA	ZNF793-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000458623.1		+	ENST00000588578.1	3'UTR	SNP	19 : 38028164 - 38028164 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	114	34
CCDC73	493860	broad.mit.edu	37	11	32635397	32635397	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32635397T>G	ENST00000335185.5	-	16	2510	c.2467A>C	c.(2467-2469)Aaa>Caa	p.K823Q		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	823										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					AGGTCATTTTTTGTGGCTTCA	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	114	119			NA	NA	11		NA											NA				32635397		1818	4085	5903	SO:0001583	missense			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714	493860	493860			23261	protein-coding gene	gene with protein product		612328			NA		Standard	NM_001008391	NM_001008391	NA	Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.2467A>C	11.37:g.32635397T>G	ENSP00000335325:p.Lys823Gln	NA	Q6P5Q7|Q6ZMW0|Q86WE7	37	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.578306	0.45902	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.64	3.16	0.36331	.	0.549721	0.17406	N	0.175351	T	0.26085	0.0636	L	0.40543	1.245	0.09310	N	0.999998	P	0.40431	0.717	B	0.37198	0.243	T	0.09684	-1.0663	9	0.45353	T	0.12	.	7.0619	0.25131	0.0:0.0767:0.1469:0.7764	.	823	Q6ZRK6	CCD73_HUMAN	Q	823	.	ENSP00000335325:K823Q	K	-	1	0	CCDC73	32591973	0.380000	0.25131	0.064000	0.19789	0.885000	0.51271	1.191000	0.32138	0.918000	0.36919	0.528000	0.53228	AAA	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388874.2		-	ENST00000335185.5	Missense_Mutation	SNP	11 : 32635397 - 32635397 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	513	99
MAST2	23139	broad.mit.edu	37	1	46500837	46500837	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46500837G>A	ENST00000361297.2	+	29	4779	c.4496G>A	c.(4495-4497)cGt>cAt	p.R1499H	MAST2_ENST00000372009.2_Missense_Mutation_p.R1309H	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	1499					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GAAGCCATTCGTGAGGTGGAC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	35	34			NA	NA	1		NA											NA				46500837		2119	4237	6356	SO:0001583	missense			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015	23139	23139			19035	protein-coding gene	gene with protein product		612257			NA		Standard	NM_015112	NM_015112	NA	Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.4496G>A	1.37:g.46500837G>A	ENSP00000354671:p.Arg1499His	NA	O94899|Q5VT07|Q5VT08|Q7LGC4|Q8NDG1|Q96B94|Q9BYE8	37	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	g	12.74	2.029744	0.35797	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000456625	T;T	0.66099	-0.12;-0.19	4.32	4.32	0.51571	.	0.209202	0.37715	N	0.001979	T	0.49115	0.1538	L	0.29908	0.895	0.27728	N	0.944905	B;B	0.23490	0.086;0.086	B;B	0.12837	0.008;0.007	T	0.46898	-0.9158	10	0.41790	T	0.15	-4.8552	13.9857	0.64334	0.0:0.1524:0.8476:0.0	.	1309;1499	E7ERL6;Q6P0Q8	.;MAST2_HUMAN	H	1499;1309;186	ENSP00000354671:R1499H;ENSP00000361079:R1309H	ENSP00000354671:R1499H	R	+	2	0	MAST2	46273424	0.997000	0.39634	0.988000	0.46212	0.725000	0.41563	2.700000	0.47085	2.417000	0.82017	0.454000	0.30748	CGT	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021977.1		+	ENST00000361297.2	Missense_Mutation	SNP	1 : 46500837 - 46500837 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	214	8
TTC26	79989	broad.mit.edu	37	7	138819493	138819493	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138819493G>T	ENST00000343187.4	+	2	171	c.96G>T	c.(94-96)gaG>gaT	p.E32D	TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000478836.2_Missense_Mutation_p.E32D|TTC26_ENST00000464848.1_Missense_Mutation_p.E32D|TTC26_ENST00000495038.1_Missense_Mutation_p.E32D|TTC26_ENST00000430935.1_Missense_Mutation_p.E32D|TTC26_ENST00000474035.2_Missense_Mutation_p.E32D	NM_001144923.1	NP_001138395.1	A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	32							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						AACTAGAGGAGCTACTTTCAA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	75	77			NA	NA	7		NA											NA				138819493		2203	4300	6503	SO:0001583	missense			AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948	79989	79989		Intraflagellar transport homologs, Tetratricopeptide (TTC) repeat domain containing	21882	protein-coding gene	gene with protein product					NA		Standard	NM_024926	NM_001144920	NA	Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000343187.4:c.96G>T	7.37:g.138819493G>T	ENSP00000339135:p.Glu32Asp	NA	A4D1S3|Q9H9S8|Q9NTC0	37	CCDS55173.1	.	.	.	.	.	.	.	.	.	.	G	5.605	0.296372	0.10622	.	.	ENSG00000105948	ENST00000430935;ENST00000495038;ENST00000474035;ENST00000478836;ENST00000464848;ENST00000343187	T;T;T;T;T	0.41065	1.01;1.03;1.06;1.01;1.02	6.06	1.94	0.25998	.	0.112837	0.64402	N	0.000013	T	0.12390	0.0301	N	0.01874	-0.695	0.38404	D	0.945736	B;B;B;B;B;B;B	0.15473	0.0;0.0;0.001;0.0;0.0;0.013;0.0	B;B;B;B;B;B;B	0.14023	0.001;0.001;0.002;0.0;0.001;0.01;0.001	T	0.28776	-1.0033	10	0.02654	T	1	.	6.0868	0.19973	0.0697:0.2421:0.5559:0.1323	.	32;32;32;32;32;32;32	B7Z2T3;F8W724;C9J2N7;B7Z6R6;A0AVF1;B7Z5M0;Q96CU4	.;.;.;.;TTC26_HUMAN;.;.	D	32	ENSP00000410655:E32D;ENSP00000418788:E32D;ENSP00000419178:E32D;ENSP00000419279:E32D;ENSP00000339135:E32D	ENSP00000339135:E32D	E	+	3	2	TTC26	138470033	1.000000	0.71417	0.979000	0.43373	0.997000	0.91878	0.889000	0.28282	0.404000	0.25506	0.650000	0.86243	GAG	TTC26-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348920.1		+	ENST00000343187.4	Missense_Mutation	SNP	7 : 138819493 - 138819493 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	337	14
PTPRN	5798	broad.mit.edu	37	2	220162710	220162710	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220162710G>T	ENST00000295718.2	-	13	2024	c.1784C>A	c.(1783-1785)gCt>gAt	p.A595D	PTPRN_ENST00000423636.2_Missense_Mutation_p.A505D|PTPRN_ENST00000409251.3_Missense_Mutation_p.A566D	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	595					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CAGAGCCACAGCCAGAGCCAC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	44	44			NA	NA	2		NA											NA				220162710		2203	4300	6503	SO:0001583	missense				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356	5798	5798		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like	9676	protein-coding gene	gene with protein product		601773			NA	8024693	Standard		NM_001199763	NA	Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1784C>A	2.37:g.220162710G>T	ENSP00000295718:p.Ala595Asp	NA	Q08319|Q53QD6	37	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781120	0.70222	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.04015	3.85;3.73;3.73	4.76	4.76	0.60689	.	0.138904	0.49916	D	0.000134	T	0.11110	0.0271	L	0.40543	1.245	0.49130	D	0.999755	D;P	0.67145	0.996;0.885	P;B	0.59115	0.852;0.446	T	0.00926	-1.1512	10	0.66056	D	0.02	.	12.0899	0.53719	0.0836:0.0:0.9164:0.0	.	566;595	Q6NSL1;Q16849	.;PTPRN_HUMAN	D	566;595;566;505	ENSP00000386638:A566D;ENSP00000295718:A595D;ENSP00000444244:A505D	ENSP00000295718:A595D	A	-	2	0	PTPRN	219870954	0.974000	0.33945	0.984000	0.44739	0.887000	0.51463	3.587000	0.53957	2.468000	0.83385	0.655000	0.94253	GCT	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256819.2		-	ENST00000295718.2	Missense_Mutation	SNP	2 : 220162710 - 220162710 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	330	78
SMG6	23293	broad.mit.edu	37	17	2139898	2139898	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2139898G>A	ENST00000263073.6	-	10	2807	c.2757C>T	c.(2755-2757)gtC>gtT	p.V919V	SMG6_ENST00000536871.2_Silent_p.V11V|SMG6_ENST00000354901.4_Silent_p.V11V|SMG6_ENST00000544865.1_Silent_p.V888V	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	NA					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ACTCCTTGAGGACCTTCTCAG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(59;28 1088 11621 25887 46638 50814)							NA				0													133	110	118			NA	NA	17		NA											NA				2139898		2203	4300	6503	SO:0001819	synonymous_variant			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366	23293	23293			17809	protein-coding gene	gene with protein product	EST1 telomerase component homolog A (S. cerevisiae)	610963	chromosome 17 open reading frame 31, smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)	C17orf31	NA	12676087, 12699629	Standard		NM_017575	NA	Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.2757C>T	17.37:g.2139898G>A		NA	O94837|Q86VH6|Q9UF60	37	CCDS11016.1																																																																																			SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437826.3		-	ENST00000263073.6	Silent	SNP	17 : 2139898 - 2139898 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	400	76
KRIT1	889	broad.mit.edu	37	7	91863867	91863867	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91863867G>A	ENST00000340022.2	-	10	1903	c.885C>T	c.(883-885)agC>agT	p.S295S	KRIT1_ENST00000394503.2_Intron|KRIT1_ENST00000412043.2_Silent_p.S295S|KRIT1_ENST00000394507.1_Silent_p.S295S|KRIT1_ENST00000394505.2_Silent_p.S295S	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	295					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTCACAGGCGCTTCGGTGGA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	73	72			NA	NA	7		NA											NA				91863867		2203	4300	6503	SO:0001819	synonymous_variant			AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631	889	889		Ankyrin repeat domain containing	1573	protein-coding gene	gene with protein product		604214	cerebral cavernous malformations 1	CCM1	NA	7604043, 11342228	Standard		NM_194455	NA	Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.885C>T	7.37:g.91863867G>A		NA	O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	37	CCDS5624.1																																																																																			KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253910.1		-	ENST00000340022.2	Silent	SNP	7 : 91863867 - 91863867 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	388	76
RFWD2	64326	broad.mit.edu	37	1	176175792	176175792	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176175792C>T	ENST00000367669.3	-	1	837	c.323G>A	c.(322-324)aGc>aAc	p.S108N	RFWD2_ENST00000308769.8_Missense_Mutation_p.S108N	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	108	Ser-rich.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CCTGCTGCCGCTGCCTAGGCT	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(134;1413 1765 5706 35534 51541)							NA				0													24	23	24			NA	NA	1		NA											NA				176175792		2170	4252	6422	SO:0001583	missense			AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207	64326	64326		WD repeat domain containing, RING-type (C3HC4) zinc fingers	17440	protein-coding gene	gene with protein product		608067	ring finger and WD repeat domain 2		NA	10395541	Standard	NM_022457	XM_005245447	NA	Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.323G>A	1.37:g.176175792C>T	ENSP00000356641:p.Ser108Asn	NA	Q6H103|Q9H6L7	37	CCDS30944.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751596	0.69533	.	.	ENSG00000143207	ENST00000367669;ENST00000308769;ENST00000436424	T;T	0.59638	0.37;0.25	3.76	3.76	0.43208	.	0.391206	0.27433	N	0.019395	T	0.45236	0.1332	N	0.24115	0.695	0.53005	D	0.999965	B;B	0.30889	0.299;0.198	B;B	0.32864	0.154;0.074	T	0.50083	-0.8869	10	0.46703	T	0.11	-4.3193	14.8775	0.70504	0.0:1.0:0.0:0.0	.	108;108	Q8NHY2-2;Q8NHY2	.;RFWD2_HUMAN	N	108	ENSP00000356641:S108N;ENSP00000310943:S108N	ENSP00000310943:S108N	S	-	2	0	RFWD2	174442415	0.997000	0.39634	0.963000	0.40424	0.796000	0.44982	3.980000	0.56895	2.076000	0.62316	0.455000	0.32223	AGC	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084672.2		-	ENST00000367669.3	Missense_Mutation	SNP	1 : 176175792 - 176175792 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	298	14
SCFD1	23256	broad.mit.edu	37	14	31144232	31144232	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31144232C>T	ENST00000458591.2	+	14	1430	c.1203C>T	c.(1201-1203)ctC>ctT	p.L401L	SCFD1_ENST00000421551.3_Silent_p.L342L|SCFD1_ENST00000544052.2_Silent_p.L334L|SCFD1_ENST00000396629.2_Silent_p.L309L|SCFD1_ENST00000541123.1_Silent_p.L216L	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	401					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		TTATTGATCTCCATACAAATG	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	73	72			NA	NA	14		NA											NA				31144232		2203	4298	6501	SO:0001819	synonymous_variant			AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108	23256	23256			20726	protein-coding gene	gene with protein product			chromosome 14 open reading frame 163	C14orf163	NA		Standard	NM_182835	NM_016106	NA	Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.1203C>T	14.37:g.31144232C>T		NA	A8K2Z5|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	37	CCDS9639.1																																																																																			SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276612.3		+	ENST00000458591.2	Silent	SNP	14 : 31144232 - 31144232 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	377	61
MUC5B	727897	broad.mit.edu	37	11	1255465	1255465	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1255465G>T	ENST00000529681.1	+	20	2466	c.2408G>T	c.(2407-2409)tGc>tTc	p.C803F	MUC5B_ENST00000447027.1_Missense_Mutation_p.C806F	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	803					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TACCTGGACTGCAGCAACAGC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	18	17			NA	NA	11		NA											NA				1255465		1972	4137	6109	SO:0001583	missense			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983	727897	727897		Mucins	7516	protein-coding gene	gene with protein product		600770	mucin 5, subtype B, tracheobronchial	MUC5	NA	9804771	Standard	XM_001126093	NM_002458	NA	Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2408G>T	11.37:g.1255465G>T	ENSP00000436812:p.Cys803Phe	NA	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	g	11.87	1.768045	0.31320	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	D;D	0.98264	-4.83;-4.83	4.21	4.21	0.49690	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (1);	.	.	.	.	D	0.99351	0.9772	H	0.97540	4.025	0.53688	D	0.999975	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.999;0.999	D	0.98376	1.0556	9	0.87932	D	0	.	16.7386	0.85454	0.0:0.0:1.0:0.0	.	803;1462;806	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	F	803;806;804;839	ENSP00000436812:C803F;ENSP00000415793:C806F	ENSP00000343037:C804F	C	+	2	0	MUC5B	1212041	1.000000	0.71417	0.927000	0.36925	0.356000	0.29392	6.844000	0.75390	2.180000	0.69256	0.457000	0.33378	TGC	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390041.2		+	ENST00000529681.1	Missense_Mutation	SNP	11 : 1255465 - 1255465 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	78	16
ZNF492	57615	broad.mit.edu	37	19	22847814	22847814	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22847814C>A	ENST00000456783.2	+	4	1587	c.1343C>A	c.(1342-1344)cCc>cAc	p.P448H		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GGAGAGAAGCCCTACAAATAT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	52	47			NA	NA	19		NA											NA				22847814		2045	4233	6278	SO:0001583	missense			AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676	57615	57615		Zinc fingers, C2H2-type	23707	protein-coding gene	gene with protein product			zinc finger protein 115 (Y20)	ZNF115	NA	10819331	Standard	NM_020855	NM_020855	NA	Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1343C>A	19.37:g.22847814C>A	ENSP00000413660:p.Pro448His	NA	Q08EI7|Q08EI8	37	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	10.68	1.417579	0.25552	.	.	ENSG00000229676	ENST00000456783	T	0.29397	1.57	1.12	1.12	0.20585	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.61578	0.2358	H	0.95365	3.66	0.09310	N	1	D	0.89917	1.0	D	0.70716	0.97	T	0.50600	-0.8809	9	0.87932	D	0	.	7.4251	0.27094	0.0:1.0:0.0:0.0	.	448	Q9P255	ZN492_HUMAN	H	448	ENSP00000413660:P448H	ENSP00000413660:P448H	P	+	2	0	ZNF492	22639654	0.050000	0.20438	0.059000	0.19551	0.059000	0.15707	1.365000	0.34182	0.269000	0.21961	0.274000	0.19336	CCC	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464581.1		+	ENST00000456783.2	Missense_Mutation	SNP	19 : 22847814 - 22847814 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	345	29
KDM1B	221656	broad.mit.edu	37	6	18208416	18208416	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18208416C>T	ENST00000297792.5	+	13	1326	c.1149C>T	c.(1147-1149)ggC>ggT	p.G383G	KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000388870.2_Silent_p.G616G|KDM1B_ENST00000397244.1_Silent_p.G384G			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	615					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						CTACAGATGGCACAGGGTATT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	160	163			NA	NA	6		NA											NA				18208416		2203	4300	6503	SO:0001819	synonymous_variant			AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097	221656	221656		Chromatin-modifying enzymes / K-demethylases	21577	protein-coding gene	gene with protein product		613081	amine oxidase, flavin containing 1, chromosome 6 open reading frame 193, amine oxidase (flavin containing) domain 1	C6orf193, AOF1	NA	19407342, 19727073	Standard	NM_153042	NM_153042	NA	Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1149C>T	6.37:g.18208416C>T		NA	A2A2C5|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	37	CCDS34343.1	.	.	.	.	.	.	.	.	.	.	C	9.526	1.109624	0.20714	.	.	ENSG00000165097	ENST00000449850	.	.	.	5.16	0.175	0.15045	.	.	.	.	.	T	0.25419	0.0618	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20107	-1.0285	4	.	.	.	-3.398	1.9357	0.03336	0.1705:0.2963:0.328:0.2052	.	.	.	.	V	433	.	.	A	+	2	0	KDM1B	18316395	0.002000	0.14202	0.050000	0.19076	0.510000	0.34073	-0.669000	0.05262	0.065000	0.16485	0.655000	0.94253	GCA	KDM1B-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277080.1		+	ENST00000297792.5	Silent	SNP	6 : 18208416 - 18208416 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	486	83
WDFY3	23001	broad.mit.edu	37	4	85758135	85758135	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85758135T>G	ENST00000295888.4	-	7	930	c.523A>C	c.(523-525)Aat>Cat	p.N175H	WDFY3_ENST00000322366.6_Missense_Mutation_p.N175H	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	175						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGTAGCTCATTCTGTGCACCT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	86	91			NA	NA	4		NA											NA				85758135		2203	4300	6503	SO:0001583	missense			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625	23001	23001		Zinc fingers, FYVE domain containing, WD repeat domain containing	20751	protein-coding gene	gene with protein product					NA	10231032	Standard	NM_014991	NM_014991	NA	Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.523A>C	4.37:g.85758135T>G	ENSP00000295888:p.Asn175His	NA	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	T	16.90	3.249306	0.59103	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.64991	-0.13;-0.13	5.76	5.76	0.90799	.	0.196716	0.53938	D	0.000047	T	0.43255	0.1239	N	0.08118	0	0.50467	D	0.999871	P;P	0.40107	0.703;0.571	B;B	0.35607	0.206;0.206	T	0.51942	-0.8641	10	0.51188	T	0.08	.	16.0697	0.80914	0.0:0.0:0.0:1.0	.	175;175	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	H	175	ENSP00000318466:N175H;ENSP00000295888:N175H	ENSP00000295888:N175H	N	-	1	0	WDFY3	85977159	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.992000	0.56980	2.190000	0.69967	0.374000	0.22700	AAT	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252811.2		-	ENST00000295888.4	Missense_Mutation	SNP	4 : 85758135 - 85758135 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	298	53
DDHD2	23259	broad.mit.edu	37	8	38103326	38103326	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38103326G>A	ENST00000397166.2	+	8	1440	c.915G>A	c.(913-915)ctG>ctA	p.L305L	DDHD2_ENST00000528888.1_3'UTR|DDHD2_ENST00000520272.2_Silent_p.L305L	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	305					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			ACACAATTCTGGATGTCTTCT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	142	142			NA	NA	8		NA											NA				38103326		2203	4300	6503	SO:0001819	synonymous_variant			AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07			23259	23259		Sterile alpha motif (SAM) domain containing	29106	protein-coding gene	gene with protein product		615003	SAM, WWE and DDHD domain containing 1	SAMWD1	NA	9872452, 11788596, 19632984, 20932832	Standard	XM_291291	NM_015214	NA	Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.915G>A	8.37:g.38103326G>A		NA	B3KWV2|Q9H8X7	37	CCDS34883.1	.	.	.	.	.	.	.	.	.	.	G	8.271	0.813372	0.16537	.	.	ENSG00000085788	ENST00000532106	.	.	.	5.55	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.0366	13.9591	0.64168	0.0733:0.0:0.9267:0.0	.	.	.	.	X	98	.	.	W	+	2	0	DDHD2	38222483	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.187000	0.50950	1.482000	0.48325	0.585000	0.79938	TGG	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377251.2		+	ENST00000397166.2	Silent	SNP	8 : 38103326 - 38103326 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	822	149
FREM2	341640	broad.mit.edu	37	13	39263556	39263556	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39263556G>A	ENST00000280481.7	+	1	2291	c.2075G>A	c.(2074-2076)cGt>cAt	p.R692H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	692					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTTGTGATTCGTATCCATCCT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	83	81	81		2075	6	1	13		81	0,8600		0,0,4300	no	missense	FREM2	NM_207361.4	29	0,2,6501	AA,AG,GG	NA	0.0,0.0454,0.0154	probably-damaging	692/3170	39263556	2,13004	2203	4300	6503	SO:0001583	missense			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893	341640	341640			25396	protein-coding gene	gene with protein product		608945			NA	15345741	Standard	NM_207361	NM_207361	NA	Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2075G>A	13.37:g.39263556G>A	ENSP00000280481:p.Arg692His	NA	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.722443	0.48728	4.54E-4	0.0	ENSG00000150893	ENST00000280481	T	0.29655	1.56	5.97	5.97	0.96955	.	0.066368	0.64402	D	0.000002	T	0.31451	0.0797	L	0.35593	1.075	0.09310	N	0.999999	D	0.64830	0.994	P	0.53006	0.715	T	0.19778	-1.0295	10	0.20046	T	0.44	.	10.7282	0.46081	0.1407:0.0:0.8593:0.0	.	692	Q5SZK8	FREM2_HUMAN	H	692	ENSP00000280481:R692H	ENSP00000280481:R692H	R	+	2	0	FREM2	38161556	0.571000	0.26659	0.975000	0.42487	0.969000	0.65631	3.169000	0.50809	2.837000	0.97791	0.655000	0.94253	CGT	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044599.2		+	ENST00000280481.7	Missense_Mutation	SNP	13 : 39263556 - 39263556 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	447	64
PLCE1	51196	broad.mit.edu	37	10	96022269	96022269	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96022269T>G	ENST00000371380.3	+	13	4068	c.3833T>G	c.(3832-3834)gTc>gGc	p.V1278G	PLCE1_ENST00000371375.1_Missense_Mutation_p.V970G|PLCE1_ENST00000260766.3_Missense_Mutation_p.V1278G|PLCE1_ENST00000371385.3_Missense_Mutation_p.V970G			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	NA					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACCAGAAATGTCTCGGATTTG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													240	218	225			NA	NA	10		NA											NA				96022269		1938	4142	6080	SO:0001583	missense				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	51196	51196	3.1.4.11		17175	protein-coding gene	gene with protein product	nephrosis type 3	608414			NA	11022047, 11022048	Standard	NM_016341	NM_016341	NA	Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.3833T>G	10.37:g.96022269T>G	ENSP00000360431:p.Val1278Gly	NA	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	37	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.209914	0.39003	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.25414	1.8;1.8;1.83;1.83	5.91	5.91	0.95273	.	0.073163	0.56097	D	0.000034	T	0.13500	0.0327	N	0.03115	-0.41	0.58432	D	0.999999	B;B;B	0.12013	0.003;0.005;0.001	B;B;B	0.11329	0.003;0.006;0.002	T	0.16305	-1.0407	10	0.22706	T	0.39	.	16.3453	0.83126	0.0:0.0:0.0:1.0	.	1262;970;1278	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	G	1278;1278;970;970	ENSP00000260766:V1278G;ENSP00000360431:V1278G;ENSP00000360438:V970G;ENSP00000360426:V970G	ENSP00000260766:V1278G	V	+	2	0	PLCE1	96012259	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.211000	0.72182	2.261000	0.74972	0.533000	0.62120	GTC	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049469.3		+	ENST00000371380.3	Missense_Mutation	SNP	10 : 96022269 - 96022269 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	848	184
C4orf27	54969	broad.mit.edu	37	4	170671837	170671837	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:170671837G>A	ENST00000393381.2	-	3	323	c.248C>T	c.(247-249)cCt>cTt	p.P83L		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	83						nucleus				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		GATATCATAAGGACCAACTAA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	122	119			NA	NA	4		NA											NA				170671837		2203	4300	6503	SO:0001583	missense			BC010367	CCDS3813.1	4q33	2011-01-25			ENSG00000056050	ENSG00000056050	54969	54969			26051	protein-coding gene	gene with protein product					NA	11230166	Standard	NM_017867	NM_017867	NA	Approved	FLJ20534	uc003isl.4	Q9NWY4	OTTHUMG00000160960	ENST00000393381.2:c.248C>T	4.37:g.170671837G>A	ENSP00000406598:p.Pro83Leu	NA		37	CCDS3813.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856558	0.71834	.	.	ENSG00000056050	ENST00000393381	T	0.73789	-0.78	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.89291	0.6673	M	0.91663	3.23	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.91841	0.5483	10	0.87932	D	0	0.6098	18.4262	0.90610	0.0:0.0:1.0:0.0	.	83	Q9NWY4	CD027_HUMAN	L	83	ENSP00000406598:P83L	ENSP00000406598:P83L	P	-	2	0	C4orf27	170908412	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	7.263000	0.78421	2.363000	0.80096	0.398000	0.26397	CCT	C4orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363140.1		-	ENST00000393381.2	Missense_Mutation	SNP	4 : 170671837 - 170671837 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	794	116
OSBPL6	114880	broad.mit.edu	37	2	179192982	179192982	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179192982G>A	ENST00000190611.4	+	5	571		c.e5-1		OSBPL6_ENST00000409045.3_Splice_Site|OSBPL6_ENST00000477097.1_Splice_Site|OSBPL6_ENST00000315022.2_Splice_Site|OSBPL6_ENST00000357080.4_Splice_Site|OSBPL6_ENST00000359685.3_Splice_Site|OSBPL6_ENST00000392505.2_Splice_Site|OSBPL6_ENST00000409631.1_Splice_Site	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	NA					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTTTCTCTCAGGAAGCTGACA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	117	115			NA	NA	2		NA											NA				179192982		2203	4300	6503	SO:0001630	splice_region_variant			AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156	114880	114880		Oxysterol binding proteins	16388	protein-coding gene	gene with protein product	OSBP-related protein 6	606734			NA	11483621	Standard	NM_032523	NM_001201480	NA	Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.196-1G>A	2.37:g.179192982G>A		NA	B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q8N9T0|Q96SR1	37	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248864	0.80024	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3787	0.94523	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OSBPL6	178901228	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	9.350000	0.97070	2.577000	0.86979	0.655000	0.94253	.	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334393.2	Intron	+	ENST00000190611.4	Splice_Site	SNP	2 : 179192982 - 179192982 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	678	106
C1orf112	55732	broad.mit.edu	37	1	169821053	169821053	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169821053A>G	ENST00000286031.6	+	23	3040	c.2340A>G	c.(2338-2340)gaA>gaG	p.E780E	C1orf112_ENST00000498289.1_3'UTR|SCYL3_ENST00000367771.6_3'UTR|C1orf112_ENST00000359326.4_Silent_p.E780E	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	780										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGACTGTAGAAGAAGCAAAGA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	83	84			NA	NA	1		NA											NA				169821053		2203	4300	6503	SO:0001819	synonymous_variant			AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460	55732	55732			25565	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_018186	NM_018186	NA	Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.2340A>G	1.37:g.169821053A>G		NA	A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	37	CCDS1285.1																																																																																			C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087126.3		+	ENST00000286031.6	Silent	SNP	1 : 169821053 - 169821053 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	240	10
PCDH15	65217	broad.mit.edu	37	10	55626499	55626499	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55626499G>T	ENST00000373965.2	-	28	4035	c.3641C>A	c.(3640-3642)gCt>gAt	p.A1214D	PCDH15_ENST00000395432.2_Missense_Mutation_p.A1170D|PCDH15_ENST00000409834.1_Missense_Mutation_p.A818D|PCDH15_ENST00000395430.1_Missense_Mutation_p.A1207D|PCDH15_ENST00000414778.1_Missense_Mutation_p.A1212D|PCDH15_ENST00000361849.3_Missense_Mutation_p.A1207D|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.A1185D|PCDH15_ENST00000395438.1_Missense_Mutation_p.A1207D|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.A1136D|PCDH15_ENST00000320301.6_Missense_Mutation_p.A1207D|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.A1214D	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1207	Cadherin 11.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GAAGAGCATAGCAGTTTTGAT	0.413		NA								HNSCC(58;0.16)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	141	147			NA	NA	10		NA											NA				55626499		2203	4300	6503	SO:0001583	missense			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275	65217	65217		Cadherins / Cadherin-related	14674	protein-coding gene	gene with protein product	cadherin-related family member 15	605514	deafness, autosomal recessive 23, protocadherin 15	USH1F, DFNB23	NA	11398101, 14570705	Standard	NM_033056	NM_033056	NA	Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.3641C>A	10.37:g.55626499G>T	ENSP00000363076:p.Ala1214Asp	NA	A6NL19|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	37		.	.	.	.	.	.	.	.	.	.	G	29.4	5.003174	0.93287	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6	5.81	5.81	0.92471	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.75997	0.3926	M	0.82056	2.57	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.998;0.996;1.0;1.0;1.0;1.0;0.998;0.998;0.998;1.0;0.998	T	0.77765	-0.2465	9	0.72032	D	0.01	.	19.6571	0.95847	0.0:0.0:1.0:0.0	.	1185;1207;1207;1212;1136;1170;1207;1207;1214;1214;1207;1212;1207	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	D	1214;1212;1207;1207;818;1214;1170;1207;1185;1207;1207;1212;1136	ENSP00000363076:A1214D;ENSP00000410304:A1212D;ENSP00000378826:A1207D;ENSP00000386693:A818D;ENSP00000378832:A1214D;ENSP00000378820:A1170D;ENSP00000354950:A1207D;ENSP00000378821:A1185D;ENSP00000322604:A1207D;ENSP00000378818:A1207D;ENSP00000412628:A1136D	ENSP00000322604:A1207D	A	-	2	0	PCDH15	55296505	1.000000	0.71417	0.960000	0.40013	0.957000	0.61999	9.869000	0.99810	2.750000	0.94351	0.655000	0.94253	GCT	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000291336.1		-	ENST00000373965.2	Missense_Mutation	SNP	10 : 55626499 - 55626499 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	469	44
PIK3C2B	5287	broad.mit.edu	37	1	204409450	204409450	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204409450C>T	ENST00000367187.3	-	23	3806		c.e23-1		PIK3C2B_ENST00000424712.2_Splice_Site	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	NA					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CGTCCCCACACTGGATGGAGG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	109	112			NA	NA	1		NA											NA				204409450		2203	4300	6503	SO:0001630	splice_region_variant			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	5287	5287	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	phosphoinositide-3-kinase, class 2, beta polypeptide		NA	9144573, 9830063	Standard	NM_002646	NM_002646	NA	Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.3250-1G>A	1.37:g.204409450C>T		NA	O95666|Q5SW99	37	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	C	31	5.074567	0.94000	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2365	0.93862	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PIK3C2B	202676073	1.000000	0.71417	0.996000	0.52242	0.525000	0.34531	7.752000	0.85141	2.655000	0.90218	0.650000	0.86243	.	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087965.1	Intron	-	ENST00000367187.3	Splice_Site	SNP	1 : 204409450 - 204409450 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	350	107
OXCT1	5019	broad.mit.edu	37	5	41805740	41805740	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41805740G>A	ENST00000196371.5	-	9	1044	c.884C>T	c.(883-885)gCt>gTt	p.A295V	OXCT1_ENST00000509987.1_Missense_Mutation_p.A109V	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	295					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	TCCAGGTTTAGCAGATTTGGC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	142	143			NA	NA	5		NA											NA				41805740		2203	4300	6503	SO:0001583	missense			U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720	5019	5019			8527	protein-coding gene	gene with protein product		601424	3-oxoacid CoA transferase	OXCT	NA	8751852	Standard	NM_000436	NM_000436	NA	Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.884C>T	5.37:g.41805740G>A	ENSP00000196371:p.Ala295Val	NA		37	CCDS3937.1	.	.	.	.	.	.	.	.	.	.	G	8.016	0.758665	0.15846	.	.	ENSG00000083720	ENST00000196371;ENST00000509987	T;T	0.79141	-1.24;-1.24	5.22	-5.59	0.02505	.	0.837146	0.11006	N	0.609933	T	0.51295	0.1666	N	0.13168	0.305	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31251	-0.9950	10	0.27082	T	0.32	0.5894	4.0039	0.09592	0.094:0.1396:0.425:0.3415	.	295	P55809	SCOT1_HUMAN	V	295;109	ENSP00000196371:A295V;ENSP00000425348:A109V	ENSP00000196371:A295V	A	-	2	0	OXCT1	41841497	0.055000	0.20627	0.000000	0.03702	0.256000	0.26092	-0.005000	0.12855	-0.846000	0.04174	-0.219000	0.12488	GCT	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000211594.2		-	ENST00000196371.5	Missense_Mutation	SNP	5 : 41805740 - 41805740 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	511	101
TMEM39B	55116	broad.mit.edu	37	1	32568053	32568053	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32568053C>T	ENST00000336294.5	+	9	1404	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W	TMEM39B_ENST00000373634.4_Missense_Mutation_p.R221W|TMEM39B_ENST00000487305.1_3'UTR	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	420						integral to membrane				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CAAACCCCTGCGGATCCTCAA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	102	102			NA	NA	1		NA											NA				32568053		2203	4300	6503	SO:0001583	missense			AL136695	CCDS351.2	1p35.1	2008-02-05			ENSG00000121775	ENSG00000121775	55116	55116			25510	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_018056	NM_018056	NA	Approved	FLJ10315	uc010ogv.2	Q9GZU3	OTTHUMG00000004020	ENST00000336294.5:c.1258C>T	1.37:g.32568053C>T	ENSP00000338165:p.Arg420Trp	NA	D3DPP4|Q6IA44	37	CCDS351.2	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902253	0.72754	.	.	ENSG00000121775	ENST00000336294;ENST00000373634	.	.	.	5.75	2.62	0.31277	.	0.054040	0.85682	D	0.000000	T	0.77301	0.4110	M	0.75264	2.295	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.77895	-0.2417	9	0.36615	T	0.2	-26.1014	16.0679	0.80897	0.4354:0.5646:0.0:0.0	.	420;293	Q9GZU3;Q9NW51	TM39B_HUMAN;.	W	420;221	.	ENSP00000338165:R420W	R	+	1	2	TMEM39B	32340640	0.791000	0.28800	1.000000	0.80357	0.987000	0.75469	0.322000	0.19576	0.851000	0.35264	0.655000	0.94253	CGG	TMEM39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000011489.2		+	ENST00000336294.5	Missense_Mutation	SNP	1 : 32568053 - 32568053 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	531	90
WNK2	65268	broad.mit.edu	37	9	95947834	95947834	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95947834C>T	ENST00000297954.4	+	1	623	c.623C>T	c.(622-624)aCg>aTg	p.T208M	WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_Missense_Mutation_p.T194M|WNK2_ENST00000427277.2_5'UTR|WNK2_ENST00000349097.3_5'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.T208M	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	208	Protein kinase.				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TCCTTCAAGACGGTCTACAAG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	38	38			NA	NA	9		NA											NA				95947834		2202	4299	6501	SO:0001583	missense			AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238	65268	65268			14542	protein-coding gene	gene with protein product		606249	serologically defined colon cancer antigen 43	SDCCAG43, PRKWNK2	NA	9610721, 11571656	Standard	NM_006648	NM_006648	NA	Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.623C>T	9.37:g.95947834C>T	ENSP00000297954:p.Thr208Met	NA	Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.1|20.1	3.932178|3.932178	0.73442|0.73442	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000432730|ENST00000448039;ENST00000297954;ENST00000395477;ENST00000395475	.|T;T;T;T	.|0.67523	.|-0.27;-0.27;-0.27;-0.27	4.34|4.34	4.34|4.34	0.51931|0.51931	.|Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.77287|0.77287	0.4108|0.4108	L|L	0.45581|0.45581	1.43|1.43	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0	T|T	0.80564|0.80564	-0.1326|-0.1326	5|10	.|0.87932	.|D	.|0	.|.	16.8414|16.8414	0.85970|0.85970	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|208;208;208;208	.|Q9Y3S1-2;Q9Y3S1-4;F8W9F9;Q9Y3S1	.|.;.;.;WNK2_HUMAN	W|M	204|208;208;208;194	.|ENSP00000412465:T208M;ENSP00000297954:T208M;ENSP00000378860:T208M;ENSP00000378858:T194M	.|ENSP00000297954:T208M	R|T	+|+	1|2	2|0	WNK2|WNK2	94987655|94987655	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.968000|0.968000	0.65278|0.65278	5.818000|5.818000	0.69236|0.69236	2.132000|2.132000	0.65825|0.65825	0.561000|0.561000	0.74099|0.74099	CGG|ACG	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000317359.1		+	ENST00000297954.4	Missense_Mutation	SNP	9 : 95947834 - 95947834 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	155	24
FLVCR2	55640	broad.mit.edu	37	14	76108229	76108229	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76108229A>G	ENST00000539311.1	+	9	991	c.882A>G	c.(880-882)gaA>gaG	p.E294E	FLVCR2_ENST00000555027.1_Silent_p.E214E|FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000553587.1_Intron|FLVCR2_ENST00000238667.4_Silent_p.E499E	NM_001195283.1	NP_001182212.1	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	499					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CAAACAAAGAAACTCTTGAGA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	123	125			NA	NA	14		NA											NA				76108229		2203	4300	6503	SO:0001819	synonymous_variant			AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686	55640	55640		Solute carriers	20105	protein-coding gene	gene with protein product		610865	chromosome 14 open reading frame 58, feline leukemia virus subgroup C cellular receptor 2	C14orf58	NA	16439531, 20206334	Standard	NM_017791	NM_017791	NA	Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000539311.1:c.882A>G	14.37:g.76108229A>G		NA	Q53ZT9|Q96JY3|Q9NX90	37	CCDS55933.1																																																																																			FLVCR2-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413674.1		+	ENST00000539311.1	Silent	SNP	14 : 76108229 - 76108229 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	542	98
DIRAS1	148252	broad.mit.edu	37	19	2717589	2717589	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2717589C>T	ENST00000323469.4	-	2	399	c.216G>A	c.(214-216)caG>caA	p.Q72Q	DIRAS1_ENST00000585334.1_Silent_p.Q72Q	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	72					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				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)		TGGACAGGCGCTGCATGGCCG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	61	65			NA	NA	19		NA											NA				2717589		2202	4297	6499	SO:0001819	synonymous_variant			BC030660	CCDS12092.1	19p13.3	2014-05-09				ENSG00000176490	NA	148252			19127	protein-coding gene	gene with protein product		607862			NA	12107278	Standard		NM_145173	NA	Approved	Di-Ras1, GBTS1, RIG	uc002lwf.3	O95057		ENST00000323469.4:c.216G>A	19.37:g.2717589C>T		NA		37	CCDS12092.1																																																																																			DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451350.1		-	ENST00000323469.4	Silent	SNP	19 : 2717589 - 2717589 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	282	68
MRPL51	51258	broad.mit.edu	37	12	6601500	6601500	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6601500G>A	ENST00000543703.1	-	2	257	c.36C>T	c.(34-36)caC>caT	p.H12H	MRPL51_ENST00000543164.1_5'UTR|MRPL51_ENST00000229238.3_Silent_p.H108H			Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	108					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			kidney(2)|large_intestine(1)|lung(3)	6						TATTAAGGTTGTGCAGGTCAT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													296	284	288			NA	NA	12		NA											NA				6601500		2203	4300	6503	SO:0001819	synonymous_variant			AB051355	CCDS8547.1	12p13.3-p13.1	2014-02-19	2002-01-07	2002-01-11		ENSG00000111639	51258	51258		Mitochondrial ribosomal proteins / large subunits	14044	protein-coding gene	gene with protein product		611855	mitochondrial ribosomal protein 64	MRP64	NA	11551941, 11543634	Standard	NM_016497	NM_016497	NA	Approved	CDA09, HSPC241, bMRP64	uc001qom.2	Q4U2R6		ENST00000543703.1:c.36C>T	12.37:g.6601500G>A		NA	Q96Q57|Q9BQ36|Q9P0N7	37																																																																																				MRPL51-006	PUTATIVE	overlapping_uORF|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000399959.2		-	ENST00000543703.1	Silent	SNP	12 : 6601500 - 6601500 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1168	188
FZD1	8321	broad.mit.edu	37	7	90895700	90895700	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:90895700G>A	ENST00000287934.2	+	1	1918	c.1505G>A	c.(1504-1506)gGc>gAc	p.G502D		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	502					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CTGTTTATCGGCACGTCCTTT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													173	152	159			NA	NA	7		NA											NA				90895700		2203	4300	6503	SO:0001583	missense			AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240	8321	8321		GPCR / Class F : Frizzled receptors	4038	protein-coding gene	gene with protein product	Wnt receptor, frizzled, Drosophila, homolog of, 1	603408	frizzled (Drosophila) homolog 1, frizzled homolog 1 (Drosophila), frizzled 1, seven transmembrane spanning receptor, frizzled family receptor 1		NA	9813155	Standard	NM_003505	NM_003505	NA	Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1505G>A	7.37:g.90895700G>A	ENSP00000287934:p.Gly502Asp	NA	A4D1E8|O94815|Q549T8	37	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582437	0.86748	.	.	ENSG00000157240	ENST00000287934	D	0.92249	-3.0	4.79	4.79	0.61399	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000003	D	0.97567	0.9203	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98994	1.0809	10	0.87932	D	0	.	18.0221	0.89258	0.0:0.0:1.0:0.0	.	502	Q9UP38	FZD1_HUMAN	D	502	ENSP00000287934:G502D	ENSP00000287934:G502D	G	+	2	0	FZD1	90733636	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.491000	0.84063	0.655000	0.94253	GGC	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059367.2		+	ENST00000287934.2	Missense_Mutation	SNP	7 : 90895700 - 90895700 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1072	206
FN1	2335	broad.mit.edu	37	2	216240026	216240026	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216240026C>T	ENST00000354785.4	-	38	6437	c.6068G>A	c.(6067-6069)gGc>gAc	p.G2023D	FN1_ENST00000346544.3_Missense_Mutation_p.G1932D|FN1_ENST00000357867.4_Missense_Mutation_p.G1842D|FN1_ENST00000359671.1_Missense_Mutation_p.G1932D|FN1_ENST00000446046.1_Missense_Mutation_p.G1932D|FN1_ENST00000336916.4_Missense_Mutation_p.G1932D|FN1_ENST00000357009.2_Missense_Mutation_p.G1932D|FN1_ENST00000432072.2_Missense_Mutation_p.G1933D|FN1_ENST00000323926.6_Missense_Mutation_p.G2023D|FN1_ENST00000443816.1_Missense_Mutation_p.G1842D|FN1_ENST00000356005.4_Missense_Mutation_p.G1842D|FN1_ENST00000421182.1_Missense_Mutation_p.G1842D|FN1_ENST00000345488.5_Missense_Mutation_p.G1932D			P02751	FINC_HUMAN	fibronectin 1	1932	Connecting strand 3 (CS-3) (V region).			V -> A (in Ref. 4; CAD97965/CAD97964).	acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GATGATGTAGCCGGTAATCCT	0.552		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	2		NA											NA				216240026		2203	4300	6503	SO:0001583	missense				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414	2335	2335		Fibronectin type III domain containing, Endogenous ligands	3778	protein-coding gene	gene with protein product	migration-stimulating factor, cold-insoluble globulin	135600			NA	2992939, 3003095	Standard	NM_212476	NM_054034	NA	Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000354785.4:c.6068G>A	2.37:g.216240026C>T	ENSP00000346839:p.Gly2023Asp	NA	O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	37	CCDS42814.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.765785	0.90020	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923;ENST00000438981	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14	5.64	5.64	0.86602	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	T	0.80265	0.4591	M	0.86028	2.79	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.82780	-0.0288	10	0.87932	D	0	.	19.7012	0.96054	0.0:1.0:0.0:0.0	.	1723;1932;1933;2023;1842;1842;1932;1932;1933;1842;1842;2023;1932	Q68CX6;F8W7G7;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	D	1842;2023;1932;1842;2023;1933;1932;1932;1932;1932;1932;1842;1933;1842;649;51	ENSP00000394423:G1842D;ENSP00000323534:G2023D;ENSP00000338200:G1932D;ENSP00000350534:G1842D;ENSP00000346839:G2023D;ENSP00000352696:G1932D;ENSP00000265312:G1932D;ENSP00000273049:G1932D;ENSP00000349509:G1932D;ENSP00000410422:G1932D;ENSP00000415018:G1842D;ENSP00000399538:G1933D;ENSP00000348285:G1842D;ENSP00000416139:G649D;ENSP00000392565:G51D	ENSP00000265313:G1933D	G	-	2	0	FN1	215948271	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	6.040000	0.70980	2.637000	0.89404	0.563000	0.77884	GGC	FN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256667.2		-	ENST00000354785.4	Missense_Mutation	SNP	2 : 216240026 - 216240026 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	21
PCDHB6	56130	broad.mit.edu	37	5	140530486	140530486	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140530486C>T	ENST00000231136.1	+	1	648	c.648C>T	c.(646-648)ggC>ggT	p.G216G	PCDHB6_ENST00000543635.1_Silent_p.G80G	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	216	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGGATGGCGGGTCTCCGC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	54	52			NA	NA	5		NA											NA				140530486		2203	4300	6503	SO:0001819	synonymous_variant			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211	56130	56130		Cadherins / Protocadherins : Clustered	8691	other	protocadherin		606332			NA	10380929	Standard	NM_018939	NM_018939	NA	Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.648C>T	5.37:g.140530486C>T		NA		37	CCDS4248.1																																																																																			PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251818.2		+	ENST00000231136.1	Silent	SNP	5 : 140530486 - 140530486 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	435	90
GRM1	2911	broad.mit.edu	37	6	146678707	146678707	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146678707C>T	ENST00000392299.2	+	6	1949	c.1479C>T	c.(1477-1479)gaC>gaT	p.D493D	GRM1_ENST00000492807.2_Silent_p.D493D|GRM1_ENST00000282753.1_Silent_p.D493D|GRM1_ENST00000507907.1_Silent_p.D493D|GRM1_ENST00000355289.4_Silent_p.D493D|GRM1_ENST00000361719.2_Silent_p.D493D			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	493					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ATCGCTATGACTATGTGCACG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													188	153	165			NA	NA	6		NA											NA				146678707		2203	4300	6503	SO:0001819	synonymous_variant			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822	2911	2911		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4593	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 85	604473			NA	9076744, 9376535	Standard	NM_000838	NM_001278064	NA	Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000392299.2:c.1479C>T	6.37:g.146678707C>T		NA	B9EG79|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	37	CCDS47497.1																																																																																			GRM1-202	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042575.2		+	ENST00000392299.2	Silent	SNP	6 : 146678707 - 146678707 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	416	80
SLC8A3	6547	broad.mit.edu	37	14	70633807	70633807	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70633807C>T	ENST00000381269.2	-	2	2086	c.1333G>A	c.(1333-1335)Gac>Aac	p.D445N	SLC8A3_ENST00000357887.3_Missense_Mutation_p.D445N|SLC8A3_ENST00000528359.1_Missense_Mutation_p.D445N|SLC8A3_ENST00000534137.1_Missense_Mutation_p.D445N|SLC8A3_ENST00000356921.2_Missense_Mutation_p.D445N	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	445	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AACTCATAGTCAGCCCCTGCA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	140	143			NA	NA	14		NA											NA				70633807		2203	4300	6503	SO:0001583	missense			AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678	6547	6547		Solute carriers	11070	protein-coding gene	gene with protein product		607991			NA	8798769	Standard		XM_005268017	NA	Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1333G>A	14.37:g.70633807C>T	ENSP00000370669:p.Asp445Asn	NA	Q8IUE9|Q8IUF0|Q8NFI7	37	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129873	0.77549	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02	5.72	5.72	0.89469	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	D	0.84853	0.5564	M	0.92122	3.275	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.91635	0.998;0.999;0.998;0.998	D	0.86941	0.2079	10	0.54805	T	0.06	.	19.8887	0.96921	0.0:1.0:0.0:0.0	.	445;445;445;445	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	N	445	ENSP00000349392:D445N;ENSP00000370669:D445N;ENSP00000350560:D445N;ENSP00000436688:D445N;ENSP00000433531:D445N	ENSP00000349392:D445N	D	-	1	0	SLC8A3	69703560	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.811000	0.86092	2.686000	0.91538	0.643000	0.83706	GAC	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390736.1		-	ENST00000381269.2	Missense_Mutation	SNP	14 : 70633807 - 70633807 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1020	207
SLC27A1	376497	broad.mit.edu	37	19	17615330	17615330	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17615330G>A	ENST00000252595.7	+	12	1947	c.1850G>A	c.(1849-1851)cGg>cAg	p.R617Q	SLC27A1_ENST00000442725.1_Missense_Mutation_p.R617Q|SLC27A1_ENST00000598848.1_3'UTR|SLC27A1_ENST00000598424.1_Missense_Mutation_p.R438Q|CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	617					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						ACCTCAGACCGGCTCTTCTTC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	75	80			NA	NA	19		NA											NA				17615330		2203	4300	6503	SO:0001583	missense			BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304	376497	376497		Acyl-CoA synthetase family, Solute carriers	10995	protein-coding gene	gene with protein product		600691			NA	10873384	Standard	NM_198580	NM_198580	NA	Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.1850G>A	19.37:g.17615330G>A	ENSP00000252595:p.Arg617Gln	NA	A6NIH2	37	CCDS32953.1	.	.	.	.	.	.	.	.	.	.	G	3.084	-0.188459	0.06299	.	.	ENSG00000130304	ENST00000442725;ENST00000252595	T;T	0.46819	0.86;0.86	4.13	1.87	0.25490	.	0.145401	0.47852	N	0.000208	T	0.30103	0.0754	L	0.28115	0.83	0.24052	N	0.99605	B;B	0.22080	0.013;0.064	B;B	0.11329	0.004;0.006	T	0.13953	-1.0490	10	0.33141	T	0.24	-18.0686	8.3662	0.32389	0.0931:0.2886:0.6184:0.0	.	438;617	B7Z662;Q6PCB7	.;S27A1_HUMAN	Q	617	ENSP00000413424:R617Q;ENSP00000252595:R617Q	ENSP00000252595:R617Q	R	+	2	0	SLC27A1	17476330	0.423000	0.25482	0.921000	0.36526	0.308000	0.27856	1.473000	0.35387	-0.076000	0.12775	-1.134000	0.01955	CGG	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464145.1		+	ENST00000252595.7	Missense_Mutation	SNP	19 : 17615330 - 17615330 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	469	81
MDP1	145553	broad.mit.edu	37	14	24683242	24683242	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24683242T>C	ENST00000288087.7	-	6	630	c.519A>G	c.(517-519)ccA>ccG	p.P173P	AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000396833.2_3'UTR|MDP1_ENST00000532557.1_5'UTR	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2			magnesium-dependent phosphatase 1	NA										breast(2)|large_intestine(2)|lung(3)	7						AGGCCTCAAATGGGCTCTCCT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	64	64			NA	NA	14		NA											NA				24683242		2203	4300	6503	SO:0001819	synonymous_variant			BC046912	CCDS9620.1, CCDS55908.1	14q12	2009-07-09			ENSG00000213920	ENSG00000213920	145553	145553			28781	protein-coding gene	gene with protein product	fructosamine-6-phosphatase				NA	10889041, 16670083	Standard	NM_138476	NM_138476	NA	Approved	MGC5987, FN6Pase		Q86V88	OTTHUMG00000133477	ENST00000288087.7:c.519A>G	14.37:g.24683242T>C		NA		37	CCDS9620.1																																																																																			MDP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257367.1		-	ENST00000288087.7	Silent	SNP	14 : 24683242 - 24683242 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	383	17
MALT1	10892	broad.mit.edu	37	18	56348560	56348560	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56348560G>A	ENST00000348428.3	+	2	626	c.368G>A	c.(367-369)aGc>aAc	p.S123N	MALT1_ENST00000345724.3_Missense_Mutation_p.S123N|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	123	Death.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						CAGCTTCTCAGCCCCCCAGGT	0.428		NA	T	BIRC3	MALT									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		18	18q21	10892	mucosa associated lymphoid tissue lymphoma translocation gene 1		L	0													71	66	68			NA	NA	18		NA											NA				56348560		2203	4300	6503	SO:0001583	missense				CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175	10892	10892		Immunoglobulin superfamily / Immunoglobulin-like domain containing	6819	protein-coding gene	gene with protein product	paracaspase	604860		MLT	NA	10339464, 10406266, 10523859	Standard		NM_006785	NA	Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.368G>A	18.37:g.56348560G>A	ENSP00000319279:p.Ser123Asn	NA	Q9NTB7|Q9ULX4	37	CCDS11967.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.265601	0.23136	.	.	ENSG00000172175	ENST00000348428;ENST00000345724	T;T	0.58940	0.3;0.3	6.03	2.81	0.32909	DEATH-like (2);	0.270585	0.47093	N	0.000243	T	0.39733	0.1089	L	0.29908	0.895	0.25731	N	0.985262	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.004	T	0.18681	-1.0329	10	0.18710	T	0.47	-7.9095	8.2378	0.31636	0.429:0.0:0.571:0.0	.	123;123	Q9UDY8-2;Q9UDY8	.;MALT1_HUMAN	N	123	ENSP00000319279:S123N;ENSP00000304161:S123N	ENSP00000304161:S123N	S	+	2	0	MALT1	54499540	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.116000	0.41930	0.632000	0.30432	0.557000	0.71058	AGC	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256132.2		+	ENST00000348428.3	Missense_Mutation	SNP	18 : 56348560 - 56348560 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	221	37
IRF6	3664	broad.mit.edu	37	1	209963951	209963951	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209963951A>G	ENST00000367021.3	-	7	1121	c.949T>C	c.(949-951)Tgc>Cgc	p.C317R	IRF6_ENST00000542854.1_Missense_Mutation_p.C222R	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	317					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TTGCACTGGCACAGCCTGATG	0.512		NA								HNSCC(57;0.16)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	78	84			NA	NA	1		NA											NA				209963951		2203	4300	6503	SO:0001583	missense			AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595	3664	3664			6121	protein-coding gene	gene with protein product		607199	Van der Woude syndrome	VWS, LPS	NA	12219090	Standard	NM_006147	NM_006147	NA	Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.949T>C	1.37:g.209963951A>G	ENSP00000355988:p.Cys317Arg	NA	D3DT90	37	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.002788	0.74932	.	.	ENSG00000117595	ENST00000367021;ENST00000542854	D;D	0.95788	-3.81;-3.81	6.17	5.02	0.67125	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.040056	0.85682	D	0.000000	D	0.97614	0.9218	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97507	1.0064	9	.	.	.	.	12.7001	0.57026	0.8765:0.0:0.0:0.1235	.	317	O14896	IRF6_HUMAN	R	317;222	ENSP00000355988:C317R;ENSP00000440532:C222R	.	C	-	1	0	IRF6	208030574	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.747000	0.91610	1.097000	0.41459	0.533000	0.62120	TGC	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088827.1		-	ENST00000367021.3	Missense_Mutation	SNP	1 : 209963951 - 209963951 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	62
PITRM1	10531	broad.mit.edu	37	10	3206051	3206051	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:3206051C>A	ENST00000224949.4	-	7	691	c.657G>T	c.(655-657)caG>caT	p.Q219H	PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380989.2_Missense_Mutation_p.Q219H|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000451104.2_Missense_Mutation_p.Q187H			E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	187					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						TCTGAAGGTGCTGGGAGAATA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	119	121			NA	NA	10		NA											NA				3206051		1924	4122	6046	SO:0001583	missense			AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959	10531	10531			17663	protein-coding gene	gene with protein product	PreP peptidasome		pitrilysin metalloproteinase 1		NA	1036083, 10470851, 16849325	Standard		NM_014889	NA	Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.657G>T	10.37:g.3206051C>A	ENSP00000224949:p.Gln219His	NA		37	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	c	17.42	3.386149	0.61956	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000451104	T;T;T	0.33438	1.41;1.41;1.41	5.7	5.7	0.88788	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.33411	0.0862	L	0.49455	1.56	0.80722	D	1	B;B;B;B;B;B	0.28880	0.092;0.102;0.18;0.113;0.113;0.226	B;B;B;B;B;B	0.32211	0.017;0.043;0.142;0.067;0.067;0.106	T	0.06006	-1.0851	10	0.19590	T	0.45	.	19.8478	0.96722	0.0:1.0:0.0:0.0	.	212;187;219;219;219;212	E9PDX6;E7ES23;Q5JRX3-2;C9JSL2;Q5JRX3;B4DH07	.;.;.;.;PREP_HUMAN;.	H	219;212;219;187	ENSP00000224949:Q219H;ENSP00000370377:Q219H;ENSP00000401201:Q187H	ENSP00000224949:Q219H	Q	-	3	2	PITRM1	3196051	1.000000	0.71417	1.000000	0.80357	0.465000	0.32709	2.273000	0.43381	2.698000	0.92095	0.655000	0.94253	CAG	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046469.2		-	ENST00000224949.4	Missense_Mutation	SNP	10 : 3206051 - 3206051 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	233	45
TNS1	7145	broad.mit.edu	37	2	218713723	218713723	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:218713723G>A	ENST00000419504.1	-	16	1303	c.1142C>T	c.(1141-1143)gCt>gTt	p.A381V	TNS1_ENST00000430930.1_Missense_Mutation_p.A381V|TNS1_ENST00000171887.4_Missense_Mutation_p.A381V|TNS1_ENST00000480665.1_5'UTR			Q9HBL0	TENS1_HUMAN	tensin 1	381						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGCATTAACAGCCCCGGTGCT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	155	158			NA	NA	2		NA											NA				218713723		2203	4300	6503	SO:0001583	missense			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308	7145	7145		Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs, SH2 domain containing	11973	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 155	600076	tensin, matrix-remodelling associated 6	TNS, MXRA6	NA		Standard	NM_022648	NM_022648	NA	Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000419504.1:c.1142C>T	2.37:g.218713723G>A	ENSP00000408724:p.Ala381Val	NA	Q4ZG71	37		.	.	.	.	.	.	.	.	.	.	G	10.41	1.342895	0.24339	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903;ENST00000413554	D;D;D;D;D	0.95949	-2.97;-2.96;-2.97;-3.44;-3.86	5.17	2.34	0.29019	.	0.976044	0.08411	N	0.949829	D	0.93109	0.7806	L	0.54323	1.7	0.21652	N	0.999606	B;B;B;B;B	0.17667	0.002;0.006;0.023;0.003;0.003	B;B;B;B;B	0.18263	0.003;0.011;0.021;0.002;0.002	D	0.85020	0.0911	10	0.62326	D	0.03	.	8.059	0.30623	0.144:0.1316:0.7243:0.0	.	381;435;381;381;381	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	V	381;381;381;506;449	ENSP00000171887:A381V;ENSP00000408724:A381V;ENSP00000406016:A381V;ENSP00000405460:A506V;ENSP00000400383:A449V	ENSP00000171887:A381V	A	-	2	0	TNS1	218421968	0.942000	0.31987	0.110000	0.21437	0.824000	0.46624	3.924000	0.56476	0.318000	0.23185	0.655000	0.94253	GCT	TNS1-004	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000339207.1		-	ENST00000419504.1	Missense_Mutation	SNP	2 : 218713723 - 218713723 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1355	229
RERG	85004	broad.mit.edu	37	12	15370385	15370385	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15370385C>A	ENST00000256953.2	-	2	375	c.39G>T	c.(37-39)ggG>ggT	p.G13G	RERG_ENST00000537647.1_Silent_p.G13G|RERG_ENST00000546331.1_Silent_p.G13G|RERG_ENST00000538313.1_Silent_p.G13G|RERG_ENST00000536465.1_Silent_p.G13G	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	13					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CGCCTGCTCTCCCAAATATTG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													289	240	256			NA	NA	12		NA											NA				15370385		2203	4300	6503	SO:0001819	synonymous_variant			AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533	85004	85004			15980	protein-coding gene	gene with protein product		612664			NA	11533059	Standard	NM_032918	NM_032918	NA	Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.39G>T	12.37:g.15370385C>A		NA	B2R9R0	37	CCDS8673.1																																																																																			RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400882.1		-	ENST00000256953.2	Silent	SNP	12 : 15370385 - 15370385 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	811	161
SMC1B	27127	broad.mit.edu	37	22	45804686	45804686	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45804686G>A	ENST00000357450.4	-	2	202	c.203C>T	c.(202-204)gCa>gTa	p.A68V	SMC1B_ENST00000404354.3_Missense_Mutation_p.A68V	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	68					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCCAATATGTGCTCCATGAAT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	117	118			NA	NA	22		NA											NA				45804686		1806	4072	5878	SO:0001583	missense			AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935	27127	27127		Structural maintenance of chromosomes proteins	11112	protein-coding gene	gene with protein product		608685	SMC1 (structural maintenance of chromosomes 1, yeast)-like 1, SMC1 structural maintenance of chromosomes 1-like 2 (yeast)	SMC1L2	NA	10591208, 11564881	Standard	NM_148674	XM_005261566	NA	Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.203C>T	22.37:g.45804686G>A	ENSP00000350036:p.Ala68Val	NA	A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	37	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	G	33	5.236098	0.95240	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.09817	2.94;3.25	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000011	T	0.38931	0.1059	M	0.81614	2.55	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.15093	-1.0449	10	0.72032	D	0.01	.	19.8667	0.96806	0.0:0.0:1.0:0.0	.	68;68	Q8NDV3-2;Q8NDV3-3	.;.	V	68	ENSP00000350036:A68V;ENSP00000385902:A68V	ENSP00000350036:A68V	A	-	2	0	SMC1B	44183350	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.066000	0.93949	2.773000	0.95371	0.655000	0.94253	GCA	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322256.2		-	ENST00000357450.4	Missense_Mutation	SNP	22 : 45804686 - 45804686 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	415	11
MOG	4340	broad.mit.edu	37	6	29633971	29633971	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29633971C>T	ENST00000376894.4	+	3	597	c.479C>T	c.(478-480)gCg>gTg	p.A160V	MOG_ENST00000396701.2_Missense_Mutation_p.A160V|MOG_ENST00000431798.2_Missense_Mutation_p.A160V|MOG_ENST00000396704.3_Missense_Mutation_p.A160V|MOG_ENST00000376891.4_Missense_Mutation_p.A160V|MOG_ENST00000494692.1_Missense_Mutation_p.A160V|MOG_ENST00000376917.3_Missense_Mutation_p.A160V|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000416766.2_Intron|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000376888.2_Missense_Mutation_p.A44V|MOG_ENST00000490427.1_Missense_Mutation_p.A44V|MOG_ENST00000376898.3_Missense_Mutation_p.A160V|MOG_ENST00000483013.1_Missense_Mutation_p.A44V			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	160					cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		p.A160V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GTTCTCCTCGCGGTGCTGCCT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											296	249	266			NA	NA	6		NA											NA				29633971		1511	2709	4220	SO:0001583	missense				CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655	4340	4340		Immunoglobulin superfamily / V-set domain containing, Butyrophilins	7197	protein-coding gene	gene with protein product		159465			NA		Standard	NM_002433	NM_002433	NA	Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376894.4:c.479C>T	6.37:g.29633971C>T	ENSP00000366091:p.Ala160Val	NA	A6NDR4|A8MY31|B0UZR9|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q5JNY1|Q5JNY4|Q5SSB5|Q5SSB6|Q5STM0|Q5STM5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	37		.	.	.	.	.	.	.	.	.	.	C	16.70	3.196546	0.58126	.	.	ENSG00000204655	ENST00000376917;ENST00000376888;ENST00000376894;ENST00000483013;ENST00000490427;ENST00000376891;ENST00000376898;ENST00000431798;ENST00000396701;ENST00000494692;ENST00000396704	T;T;T;T;T;T;T;T;T;T;T	0.45276	3.48;1.06;3.44;0.91;0.9;3.54;3.51;3.56;3.52;3.51;3.52	5.71	4.83	0.62350	.	0.129375	0.35466	N	0.003197	T	0.38026	0.1025	L	0.53249	1.67	0.46167	D	0.9989	P;P;P;D;D;D;D;D;P;D;P;D	0.56968	0.708;0.708;0.942;0.978;0.978;0.967;0.972;0.978;0.944;0.978;0.566;0.969	B;B;P;P;P;P;P;P;B;P;B;P	0.53006	0.138;0.138;0.563;0.573;0.573;0.715;0.469;0.551;0.359;0.551;0.06;0.453	T	0.35201	-0.9798	10	0.87932	D	0	.	9.6279	0.39761	0.0:0.9076:0.0:0.0924	.	44;44;90;160;160;160;160;160;160;160;44;160	E9PG44;E9PGF0;B7Z2X8;F8W9D5;Q16653-2;Q16653-3;Q16653-6;Q16653-7;Q16653;Q16653-5;Q16653-4;Q5SUK5	.;.;.;.;.;.;.;.;MOG_HUMAN;.;.;.	V	160;44;160;44;44;160;160;160;160;160;160	ENSP00000366115:A160V;ENSP00000366085:A44V;ENSP00000366091:A160V;ENSP00000418090:A44V;ENSP00000420350:A44V;ENSP00000366088:A160V;ENSP00000366095:A160V;ENSP00000410866:A160V;ENSP00000379929:A160V;ENSP00000417405:A160V;ENSP00000379932:A160V	ENSP00000366085:A44V	A	+	2	0	MOG	29741950	0.534000	0.26362	0.629000	0.29254	0.241000	0.25554	2.143000	0.42187	2.686000	0.91538	0.655000	0.94253	GCG	MOG-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000194941.1		+	ENST00000376894.4	Missense_Mutation	SNP	6 : 29633971 - 29633971 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1167	211
RASGRF1	5923	broad.mit.edu	37	15	79296436	79296436	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79296436G>A	ENST00000419573.3	-	16	2479	c.2205C>T	c.(2203-2205)cgC>cgT	p.R735R	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000394745.3_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.R719R	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	735	N-terminal Ras-GEF.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGGAGAACTTGCGGGTGGCGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	46	44			NA	NA	15		NA											NA				79296436		2196	4293	6489	SO:0001819	synonymous_variant			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335	5923	5923		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	9875	protein-coding gene	gene with protein product		606600		GRF1	NA	7684828, 1379731	Standard	NM_002891	NM_153815	NA	Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2205C>T	15.37:g.79296436G>A		NA	Q16027	37	CCDS10309.1																																																																																			RASGRF1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000291371.3		-	ENST00000419573.3	Silent	SNP	15 : 79296436 - 79296436 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	489	18
DYRK4	8798	broad.mit.edu	37	12	4722727	4722727	+	Silent	SNP	G	G	A	rs143171709		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4722727G>A	ENST00000540757.2	+	13	1531	c.1371G>A	c.(1369-1371)acG>acA	p.T457T	RP11-500M8.7_ENST00000536588.1_Intron|DYRK4_ENST00000543431.1_Silent_p.T456T|DYRK4_ENST00000545342.1_Silent_p.T94T|DYRK4_ENST00000010132.5_Silent_p.T457T	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	457						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T858T(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			ATAGCCCCACGAAGCATGTTC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	urinary_tract(1)						G		4,4402	8.1+/-20.4	0,4,2199	83	75	78		1371	-11.8	0	12	dbSNP_134	78	0,8600		0,0,4300	no	coding-synonymous	DYRK4	NM_003845.1		0,4,6499	AA,AG,GG	NA	0.0,0.0908,0.0308		457/521	4722727	4,13002	2203	4300	6503	SO:0001819	synonymous_variant			Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219	8798	8798			3095	protein-coding gene	gene with protein product		609181			NA	9748265	Standard		NM_003845	NA	Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.1371G>A	12.37:g.4722727G>A		NA	Q8NEF2|Q92631	37	CCDS8530.1																																																																																			DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398780.2		+	ENST00000540757.2	Silent	SNP	12 : 4722727 - 4722727 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	312	23
SRSF4	6429	broad.mit.edu	37	1	29475125	29475125	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29475125G>A	ENST00000373795.4	-	6	1516	c.1282C>T	c.(1282-1284)Cga>Tga	p.R428*	SRSF4_ENST00000546138.1_3'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	428	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						CTCTCTCCTCGACCTTCCCTC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													235	239	238			NA	NA	1		NA											NA				29475125		2203	4300	6503	SO:0001587	stop_gained			BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350	6429	6429		Serine/arginine-rich splicing factors, RNA binding motif (RRM) containing	10786	protein-coding gene	gene with protein product	SR splicing factor 4	601940	splicing factor, arginine/serine-rich 4	SFRS4	NA	8321209, 20516191	Standard	NM_005626	NM_005626	NA	Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.1282C>T	1.37:g.29475125G>A	ENSP00000362900:p.Arg428*	NA	Q5VXP1|Q9BUA4|Q9UEB5	37	CCDS333.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870825	0.91587	.	.	ENSG00000116350	ENST00000373795	.	.	.	5.72	2.51	0.30379	.	0.286209	0.37669	N	0.001985	.	.	.	.	.	.	0.33133	D	0.5433	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.424	0.07403	0.0859:0.1188:0.372:0.4234	.	.	.	.	X	428	.	ENSP00000362900:R428X	R	-	1	2	SRSF4	29347712	0.005000	0.15991	0.996000	0.52242	0.965000	0.64279	1.277000	0.33167	0.723000	0.32274	0.655000	0.94253	CGA	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000010392.1		-	ENST00000373795.4	Nonsense_Mutation	SNP	1 : 29475125 - 29475125 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1283	54
AGBL1	123624	broad.mit.edu	37	15	86822914	86822914	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86822914G>A	ENST00000441037.2	+	15	2077	c.1982G>A	c.(1981-1983)gGg>gAg	p.G661E	AGBL1_ENST00000421325.2_Missense_Mutation_p.G661E|AGBL1_ENST00000389298.3_Missense_Mutation_p.G392E	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	661					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GGAGCATCTGGGAAGTGCTAC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	177	178			NA	NA	15		NA											NA				86822914		2080	4220	6300	SO:0001583	missense			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748	123624	123624			26504	protein-coding gene	gene with protein product	cytosolic carboxypeptidase 4	615496			NA	21074048, 24094747	Standard	NM_152336	NM_152336	NA	Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.1982G>A	15.37:g.86822914G>A	ENSP00000413001:p.Gly661Glu	NA	A1A4X5|A6NJH6|C9JHL5	37	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.023810	0.35701	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.10860	2.83;2.83	4.83	3.88	0.44766	.	0.411474	0.25572	N	0.029742	T	0.11239	0.0274	L	0.49778	1.585	0.38626	D	0.951253	B;B;B	0.29508	0.036;0.079;0.246	B;B;B	0.26202	0.042;0.067;0.046	T	0.08351	-1.0726	10	0.45353	T	0.12	-10.3879	11.4658	0.50239	0.0906:0.0:0.9094:0.0	.	360;392;661	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	E	690;661;392	ENSP00000397173:G661E;ENSP00000373949:G392E	ENSP00000373949:G392E	G	+	2	0	AGBL1	84623918	1.000000	0.71417	0.185000	0.23176	0.509000	0.34042	5.267000	0.65530	1.189000	0.43028	0.655000	0.94253	GGG	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000314929.5		+	ENST00000441037.2	Missense_Mutation	SNP	15 : 86822914 - 86822914 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	712	156
DLAT	1737	broad.mit.edu	37	11	111899614	111899614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111899614C>T	ENST00000393051.1	+	4	638	c.605C>T	c.(604-606)tCg>tTg	p.S202L	DLAT_ENST00000537636.1_Intron|DLAT_ENST00000280346.6_Missense_Mutation_p.S202L			P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	320					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	GCCACTGCTTCGCCACCTACA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	86	87			NA	NA	11		NA											NA				111899614		2201	4297	6498	SO:0001583	missense			Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	1737	1737	2.3.1.12		2896	protein-coding gene	gene with protein product	E2 component of pyruvate dehydrogenase complex	608770		DLTA	NA	8102256	Standard	NM_001931	NM_001931	NA	Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000393051.1:c.605C>T	11.37:g.111899614C>T	ENSP00000376771:p.Ser202Leu	NA	Q16783|Q53EP3	37		.	.	.	.	.	.	.	.	.	.	C	6.901	0.535718	0.13188	.	.	ENSG00000150768	ENST00000280346;ENST00000534998;ENST00000393051	T;T	0.16897	2.31;2.41	5.4	2.49	0.30216	.	1.048000	0.07534	N	0.912785	T	0.12860	0.0312	N	0.22421	0.69	0.18873	N	0.999988	B;B	0.22541	0.071;0.002	B;B	0.11329	0.006;0.0	T	0.32375	-0.9909	10	0.31617	T	0.26	2.3041	10.952	0.47334	0.0:0.7928:0.0:0.2072	.	202;202	E9PEJ4;P10515	.;ODP2_HUMAN	L	202;170;202	ENSP00000280346:S202L;ENSP00000376771:S202L	ENSP00000280346:S202L	S	+	2	0	DLAT	111404824	0.173000	0.23056	0.000000	0.03702	0.050000	0.14768	2.911000	0.48774	0.660000	0.30964	-0.225000	0.12378	TCG	DLAT-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000258168.1		+	ENST00000393051.1	Missense_Mutation	SNP	11 : 111899614 - 111899614 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	675	140
TDRD6	221400	broad.mit.edu	37	6	46657569	46657569	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46657569C>T	ENST00000316081.6	+	1	1704	c.1704C>T	c.(1702-1704)ttC>ttT	p.F568F	TDRD6_ENST00000544460.1_Silent_p.F568F	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	568	Tudor 3.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGGATGTATTCTTAGTTGACC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	167	167			NA	NA	6		NA											NA				46657569		2203	4300	6503	SO:0001819	synonymous_variant			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113	221400	221400		Tudor domain containing	21339	protein-coding gene	gene with protein product	cancer/testis antigen 41.2, spermatogenesis associated 36	611200			NA	9610721	Standard	XM_166443	NM_001010870	NA	Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1704C>T	6.37:g.46657569C>T		NA	Q5HYB1|Q5VTS4|Q6ZMX5	37	CCDS34470.1																																																																																			TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040800.1		+	ENST00000316081.6	Silent	SNP	6 : 46657569 - 46657569 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1147	236
MLLT4	4301	broad.mit.edu	37	6	168363200	168363200	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168363200C>T	ENST00000400822.3	+	31	4930	c.4930C>T	c.(4930-4932)Cgc>Tgc	p.R1644C	MLLT4_ENST00000392108.3_Missense_Mutation_p.R1632C|MLLT4_ENST00000344191.4_Missense_Mutation_p.R1646C|MLLT4_ENST00000392112.1_Missense_Mutation_p.R1617C|MLLT4_ENST00000366806.2_Missense_Mutation_p.R1634C|MLLT4_ENST00000351017.4_Missense_Mutation_p.R1641C|MLLT4_ENST00000447894.2_Missense_Mutation_p.R1634C			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1634					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	p.R1634C(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AGAGGAAGAGCGCCGGCGGCA	0.547		NA	T	MLL	AL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		6	6q27	4301	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)		L	1	Substitution - Missense(1)	kidney(1)											89	112	104			NA	NA	6		NA											NA				168363200		2029	4170	6199	SO:0001583	missense			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396	4301	4301			7137	protein-coding gene	gene with protein product		159559	myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4		NA	8242616	Standard	NM_005936	NM_001040000	NA	Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000400822.3:c.4930C>T	6.37:g.168363200C>T	ENSP00000383623:p.Arg1644Cys	NA	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	37		.	.	.	.	.	.	.	.	.	.	C	13.30	2.195144	0.38806	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.58210	3.56;0.66;3.55;0.66;0.66;0.35;0.66	4.06	3.16	0.36331	.	0.083308	0.45606	D	0.000348	T	0.54191	0.1843	L	0.57536	1.79	0.43255	D	0.995184	D;D;P	0.57571	0.966;0.98;0.95	B;P;P	0.59948	0.402;0.606;0.866	T	0.61197	-0.7111	10	0.87932	D	0	-3.5836	13.5002	0.61449	0.0:0.8355:0.1645:0.0	.	1634;1644;1632	P55196;P55196-5;P55196-6	AFAD_HUMAN;.;.	C	1646;1641;1632;1634;1617;1646;1644;1634	ENSP00000341118:R1646C;ENSP00000252692:R1641C;ENSP00000375956:R1632C;ENSP00000355771:R1634C;ENSP00000375960:R1617C;ENSP00000383623:R1644C;ENSP00000404595:R1634C	ENSP00000345834:R1646C	R	+	1	0	MLLT4	168106049	1.000000	0.71417	0.502000	0.27614	0.018000	0.09664	2.359000	0.44142	0.771000	0.33359	0.591000	0.81541	CGC	MLLT4-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000043150.2		+	ENST00000400822.3	Missense_Mutation	SNP	6 : 168363200 - 168363200 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	830	133
CD93	22918	broad.mit.edu	37	20	23065886	23065886	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23065886G>A	ENST00000246006.4	-	1	1091	c.944C>T	c.(943-945)gCc>gTc	p.A315V		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	315	EGF-like 2.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GACGCACGTGGCCCCCCCACG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	46	45			NA	NA	20		NA											NA				23065886		2203	4300	6503	SO:0001583	missense			U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810	22918	22918		CD molecules	15855	protein-coding gene	gene with protein product		120577	matrix-remodelling associated 4, complement component 1, q subcomponent, receptor 1, CD93 antigen	MXRA4, C1QR1	NA	9047234, 10648005	Standard	NM_012072	NM_012072	NA	Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.944C>T	20.37:g.23065886G>A	ENSP00000246006:p.Ala315Val	NA	O00274	37	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.373803	0.24857	.	.	ENSG00000125810	ENST00000246006	D	0.88431	-2.38	5.42	4.45	0.53987	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.115159	0.38778	N	0.001580	D	0.86665	0.5987	M	0.83483	2.645	0.09310	N	1	B	0.28760	0.221	B	0.22386	0.039	T	0.73757	-0.3882	10	0.17832	T	0.49	-22.1666	8.9853	0.35990	0.076:0.0:0.7781:0.1459	.	315	Q9NPY3	C1QR1_HUMAN	V	315	ENSP00000246006:A315V	ENSP00000246006:A315V	A	-	2	0	CD93	23013886	0.009000	0.17119	0.024000	0.17045	0.049000	0.14656	1.116000	0.31221	1.386000	0.46466	0.650000	0.86243	GCC	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078312.2		-	ENST00000246006.4	Missense_Mutation	SNP	20 : 23065886 - 23065886 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	511	82
GAN	8139	broad.mit.edu	37	16	81391435	81391435	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81391435C>T	ENST00000568107.2	+	5	1034	c.872C>T	c.(871-873)gCg>gTg	p.A291V		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	NA					cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				CCCACAGCAGCGATGCGATGC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(106;1239 1507 7582 9741 33976)							NA				0													182	162	169			NA	NA	16		NA											NA				81391435		2202	4300	6502	SO:0001583	missense			AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609	8139	8139		Kelch-like, BTB/POZ domain containing	4137	protein-coding gene	gene with protein product	kelch-like family member 16	605379	giant axonal neuropathy (gigaxonin)		NA	9450783, 11062483	Standard		NM_022041	NA	Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.872C>T	16.37:g.81391435C>T	ENSP00000476795:p.Ala291Val	NA		37	CCDS10935.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.192697	0.38707	.	.	ENSG00000127688	ENST00000248272	T	0.74737	-0.87	5.94	2.64	0.31445	Galactose oxidase, beta-propeller (1);	0.618014	0.18018	N	0.154339	T	0.53867	0.1823	N	0.14661	0.345	0.31137	N	0.707028	B	0.06786	0.001	B	0.01281	0.0	T	0.53049	-0.8493	10	0.45353	T	0.12	.	6.9145	0.24352	0.0:0.5983:0.0:0.4017	.	291	Q9H2C0	GAN_HUMAN	V	291	ENSP00000248272:A291V	ENSP00000248272:A291V	A	+	2	0	GAN	79948936	0.865000	0.29922	0.163000	0.22734	0.760000	0.43138	1.208000	0.32345	0.854000	0.35336	0.557000	0.71058	GCG	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269050.3		+	ENST00000568107.2	Missense_Mutation	SNP	16 : 81391435 - 81391435 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1008	157
NEFM	4741	broad.mit.edu	37	8	24772180	24772180	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24772180T>C	ENST00000221166.5	+	1	1656	c.874T>C	c.(874-876)Ttc>Ctc	p.F292L	NEFM_ENST00000437366.2_Missense_Mutation_p.F292L|NEFM_ENST00000518131.1_Missense_Mutation_p.F292L|NEFM_ENST00000521540.1_3'UTR|GS1-72M22.1_ENST00000607058.1_RNA			P07197	NFM_HUMAN	neurofilament, medium polypeptide	292	Coil 2B.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CGAAGAGTGGTTCAAATGCCG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	85	91			NA	NA	8		NA											NA				24772180		2203	4300	6503	SO:0001583	missense			BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722	4741	4741		Intermediate filaments type IV	7734	protein-coding gene	gene with protein product		162250	neurofilament, medium polypeptide 150kDa	NEF3	NA	1348579	Standard	NM_005382	NM_001105541	NA	Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.874T>C	8.37:g.24772180T>C	ENSP00000221166:p.Phe292Leu	NA	Q4QRK6	37	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	T	31	5.079353	0.94050	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366	D;D;D	0.91295	-2.82;-2.82;-2.82	4.69	4.69	0.59074	Filament (1);	0.000000	0.45361	D	0.000378	D	0.95092	0.8410	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.95728	0.8772	10	0.87932	D	0	.	14.435	0.67274	0.0:0.0:0.0:1.0	.	292;292	E7EMV2;P07197	.;NFM_HUMAN	L	292	ENSP00000221166:F292L;ENSP00000427872:F292L;ENSP00000410137:F292L	ENSP00000221166:F292L	F	+	1	0	NEFM	24828085	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.984000	0.88150	1.873000	0.54277	0.383000	0.25322	TTC	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254954.2		+	ENST00000221166.5	Missense_Mutation	SNP	8 : 24772180 - 24772180 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	312	21
HTR2B	3357	broad.mit.edu	37	2	231974067	231974067	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231974067T>G	ENST00000258400.3	-	4	1122	c.610A>C	c.(610-612)Aat>Cat	p.N204H	PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000373635.4_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	204					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	CAAGTGATATTGTTTGGGTTG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(155;1331 1891 12853 14038 34991)							NA				0													110	99	103			NA	NA	2		NA											NA				231974067		2203	4300	6503	SO:0001583	missense				CCDS2483.1	2q36.3-q37.1	2012-08-08	2012-02-03		ENSG00000135914	ENSG00000135914	3357	3357		5-HT (serotonin) receptors, GPCR / Class A : 5-HT (serotonin) receptors, GPCR only	5294	protein-coding gene	gene with protein product		601122	5-hydroxytryptamine (serotonin) receptor 2B		NA	8143856	Standard	NM_000867	NM_000867	NA	Approved	5-HT(2B), 5-HT2B	uc002vro.3	P41595	OTTHUMG00000133222	ENST00000258400.3:c.610A>C	2.37:g.231974067T>G	ENSP00000258400:p.Asn204His	NA	B2R9D5|Q53TI1|Q62221|Q6P523	37	CCDS2483.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.257398	0.80246	.	.	ENSG00000135914	ENST00000258400	T	0.32988	1.43	5.73	5.73	0.89815	GPCR, rhodopsin-like superfamily (1);	0.080696	0.85682	D	0.000000	T	0.51381	0.1671	L	0.53729	1.69	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75484	0.98;0.986	T	0.48725	-0.9010	10	0.49607	T	0.09	.	16.0174	0.80450	0.0:0.0:0.0:1.0	.	19;204	B3VRC5;P41595	.;5HT2B_HUMAN	H	204	ENSP00000258400:N204H	ENSP00000258400:N204H	N	-	1	0	HTR2B	231682311	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	7.484000	0.81180	2.186000	0.69663	0.533000	0.62120	AAT	HTR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256957.2		-	ENST00000258400.3	Missense_Mutation	SNP	2 : 231974067 - 231974067 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	439	112
MARCH11	441061	broad.mit.edu	37	5	16177968	16177968	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16177968C>T	ENST00000332432.8	-	2	759	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	MARCH11_ENST00000505509.1_5'UTR	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	187						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						CCCATCACATCGGCAGGGGTT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	84	85			NA	NA	5		NA											NA				16177968		1901	4127	6028	SO:0001583	missense			BC150513	CCDS47192.1	5p15.1	2013-01-09			ENSG00000183654	ENSG00000183654	441061	441061		RING-type (C3HC4) zinc fingers, MARCH membrane-associated ring fingers	33609	protein-coding gene	gene with protein product		613338			NA	17604280	Standard	NM_001102562	NM_001102562	NA	Approved	MARCH-XI	uc003jfo.2	A6NNE9	OTTHUMG00000161789	ENST00000332432.8:c.560G>A	5.37:g.16177968C>T	ENSP00000333181:p.Arg187Gln	NA	A7E2S6	37	CCDS47192.1	.	.	.	.	.	.	.	.	.	.	C	34	5.309146	0.95629	.	.	ENSG00000183654	ENST00000332432	T	0.55234	0.53	5.68	5.68	0.88126	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (2);	0.000000	0.56097	U	0.000033	T	0.70413	0.3221	L	0.54965	1.715	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.71196	-0.4664	10	0.72032	D	0.01	-5.0254	19.7964	0.96487	0.0:1.0:0.0:0.0	.	187	A6NNE9	MARHB_HUMAN	Q	187	ENSP00000333181:R187Q	ENSP00000333181:R187Q	R	-	2	0	MARCH11	16230968	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.731000	0.84895	2.702000	0.92279	0.655000	0.94253	CGA	MARCH11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366096.2		-	ENST00000332432.8	Missense_Mutation	SNP	5 : 16177968 - 16177968 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	303	50
RBCK1	10616	broad.mit.edu	37	20	390527	390527	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:390527G>T	ENST00000400247.3	+	2	437				RBCK1_ENST00000400245.3_3'UTR|RBCK1_ENST00000382181.2_Intron|RBCK1_ENST00000356286.5_Nonsense_Mutation_p.E9*|RBCK1_ENST00000353660.3_Intron|RBCK1_ENST00000475269.1_Nonsense_Mutation_p.E9*			Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	NA					interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				GCTTTCAGCAGAGGAAATGGC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	131	127			NA	NA	20		NA											NA				390527		2203	4300	6503	SO:0001627	intron_variant			U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826	10616	10616		RING-type (C3HC4) zinc fingers, Zinc fingers, RAN-binding domain containing	15864	protein-coding gene	gene with protein product	heme-oxidized IRP2 ubiquitin ligase 1	610924	chromosome 20 open reading frame 18	C20orf18	NA		Standard	NM_031229	NM_031229	NA	Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000400247.3:c.42-529G>T	20.37:g.390527G>T		NA	O95623|Q86SL2|Q96BS3|Q9BYM9	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.11|16.11	3.030241|3.030241	0.54790|0.54790	.|.	.|.	ENSG00000125826|ENSG00000125826	ENST00000441733|ENST00000411647;ENST00000356286;ENST00000475269;ENST00000400244;ENST00000400243	.|.	.|.	.|.	4.68|4.68	4.68|4.68	0.58851|0.58851	.|.	.|0.094910	.|0.38897	.|U	.|0.001527	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.66056	.|D	.|0.02	.|-11.2532	15.14|15.14	0.72604|0.72604	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|X	-1|9	.|.	.|ENSP00000348632:E9X	.|E	+|+	.|1	.|0	RBCK1|RBCK1	338527|338527	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.771000|0.771000	0.43674|0.43674	6.944000|6.944000	0.75940|0.75940	2.397000|2.397000	0.81536|0.81536	0.563000|0.563000	0.77884|0.77884	.|GAG	RBCK1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000077453.2		+	ENST00000400247.3	Intron	SNP	20 : 390527 - 390527 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1108	221
CACNA1D	776	broad.mit.edu	37	3	53700441	53700441	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53700441A>C	ENST00000422281.2	+	7	995	c.995A>C	c.(994-996)gAa>gCa	p.E332A	CACNA1D_ENST00000350061.5_Missense_Mutation_p.E332A|CACNA1D_ENST00000288139.4_Missense_Mutation_p.E332A	NM_001128839.1	NP_001122311.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	332					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AATGGCACGGAATGTAGGAGT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													218	209	212			NA	NA	3		NA											NA				53700441		2203	4300	6503	SO:0001583	missense			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388	776	776		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2	NA	1664412	Standard	NM_000720	NM_000720	NA	Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000422281.2:c.995A>C	3.37:g.53700441A>C	ENSP00000409174:p.Glu332Ala	NA	Q13916|Q13931|Q9UDC3	37	CCDS46849.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.30|15.30	2.791494|2.791494	0.50102|0.50102	.|.	.|.	ENSG00000157388|ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478|ENST00000481085	D;D;D;D|.	0.96200|.	-3.91;-3.94;-3.93;-3.91|.	5.29|5.29	5.29|5.29	0.74685|0.74685	Ion transport (1);|.	0.157207|.	0.44902|.	D|.	0.000420|.	T|T	0.71660|0.71660	0.3366|0.3366	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	P;B;B|.	0.36837|.	0.571;0.068;0.321|.	P;B;B|.	0.46208|.	0.507;0.102;0.281|.	T|T	0.72603|0.72603	-0.4243|-0.4243	10|5	0.32370|.	T|.	0.25|.	.|.	10.5953|10.5953	0.45333|0.45333	0.8565:0.0:0.0:0.1435|0.8565:0.0:0.0:0.1435	.|.	332;332;332|.	B0FYA3;Q01668;Q01668-2|.	.;CAC1D_HUMAN;.|.	A|H	332;332;332;5|18	ENSP00000288133:E332A;ENSP00000288139:E332A;ENSP00000409174:E332A;ENSP00000418014:E5A|.	ENSP00000288139:E332A|.	E|N	+|+	2|1	0|0	CACNA1D|CACNA1D	53675481|53675481	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.940000|0.940000	0.58332|0.58332	3.768000|3.768000	0.55295|0.55295	2.215000|2.215000	0.71742|0.71742	0.533000|0.533000	0.62120|0.62120	GAA|AAT	CACNA1D-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350556.1		+	ENST00000422281.2	Missense_Mutation	SNP	3 : 53700441 - 53700441 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1203	197
KLK14	43847	broad.mit.edu	37	19	51582124	51582124	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51582124G>A	ENST00000156499.2	-	6	817	c.599C>T	c.(598-600)aCg>aTg	p.T200M	KLK14_ENST00000391802.1_Missense_Mutation_p.T200M			Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	200	Peptidase S1.				epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		CATGCCAGGCGTGATGGTTCT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(117;2161 2172 2448 22911)							NA				0													189	193	192			NA	NA	19		NA											NA				51582124		1988	4175	6163	SO:0001583	missense			AF283670	CCDS12823.2	19q13.3-q13.4	2008-02-05	2006-10-27		ENSG00000129437	ENSG00000129437	43847	43847		Kallikreins	6362	protein-coding gene	gene with protein product		606135	kallikrein 14		NA	16800724, 16800723	Standard	NM_022046	XM_006723224	NA	Approved	KLK-L6	uc002pvs.1	Q9P0G3	OTTHUMG00000143721	ENST00000156499.2:c.599C>T	19.37:g.51582124G>A	ENSP00000156499:p.Thr200Met	NA	A7UNK5|Q1RMZ2|Q6B089	37	CCDS12823.2	.	.	.	.	.	.	.	.	.	.	.	14.41	2.528327	0.44969	.	.	ENSG00000129437	ENST00000156499;ENST00000391802	D;D	0.91068	-2.78;-2.78	4.49	4.49	0.54785	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.95771	0.8624	M	0.90252	3.1	0.37125	D	0.900994	D	0.89917	1.0	D	0.71184	0.972	D	0.98452	1.0592	9	0.87932	D	0	.	14.7352	0.69412	0.0:0.0:1.0:0.0	.	200	Q9P0G3	KLK14_HUMAN	M	200	ENSP00000156499:T200M;ENSP00000375678:T200M	ENSP00000156499:T200M	T	-	2	0	KLK14	56273936	1.000000	0.71417	0.228000	0.23943	0.021000	0.10359	4.476000	0.60216	2.079000	0.62486	0.394000	0.25966	ACG	KLK14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000289774.2		-	ENST00000156499.2	Missense_Mutation	SNP	19 : 51582124 - 51582124 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1267	44
ZNF664	144348	broad.mit.edu	37	12	124497096	124497096	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124497096A>T	ENST00000539644.1	+	6	2235	c.405A>T	c.(403-405)agA>agT	p.R135S	FAM101A_ENST00000545615.1_Intron|ZNF664_ENST00000538932.2_Missense_Mutation_p.R135S|ZNF664_ENST00000392404.3_Missense_Mutation_p.R135S|ZNF664_ENST00000337815.4_Missense_Mutation_p.R135S			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		TGCATCAGAGAGTCCACACCG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	83	79			NA	NA	12		NA											NA				124497096		2203	4300	6503	SO:0001583	missense				CCDS9257.1	12q24.31	2013-05-10			ENSG00000179195	ENSG00000179195	144348	144348		Zinc fingers, C2H2-type	25406	protein-coding gene	gene with protein product			zinc finger protein 176	ZNF176	NA	12477932	Standard	NM_152437	NM_001204298	NA	Approved	ZFOC1, DKFZp761B128	uc001uga.3	Q8N3J9	OTTHUMG00000168596	ENST00000539644.1:c.405A>T	12.37:g.124497096A>T	ENSP00000441405:p.Arg135Ser	NA	B3KP97|Q15914|Q3ZCQ7	37	CCDS9257.1	.	.	.	.	.	.	.	.	.	.	A	18.76	3.692233	0.68271	.	.	ENSG00000179195	ENST00000539644;ENST00000392404;ENST00000538932;ENST00000337815;ENST00000535937	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	4.25	-0.735	0.11137	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39615	N	0.001310	T	0.32941	0.0846	L	0.58428	1.81	0.32323	N	0.56211	D	0.71674	0.998	D	0.65323	0.934	T	0.42189	-0.9466	10	0.87932	D	0	-30.8672	0.788	0.01052	0.358:0.1751:0.297:0.1699	.	135	Q8N3J9	ZN664_HUMAN	S	135;135;135;135;73	ENSP00000441405:R135S;ENSP00000376205:R135S;ENSP00000440645:R135S;ENSP00000337320:R135S	ENSP00000337320:R135S	R	+	3	2	ZNF664	123063049	0.010000	0.17322	0.997000	0.53966	0.997000	0.91878	-0.127000	0.10547	-0.127000	0.11661	0.533000	0.62120	AGA	ZNF664-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400365.1		+	ENST00000539644.1	Missense_Mutation	SNP	12 : 124497096 - 124497096 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	873	106
SLC1A1	6505	broad.mit.edu	37	9	4576049	4576049	+	Silent	SNP	C	C	T	rs137855083		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4576049C>T	ENST00000262352.3	+	9	1160	c.924C>T	c.(922-924)gtC>gtT	p.V308V		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	308					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	ATTTCATAGTCGTACGAAAGA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	99	94	96		924	-10.8	0	9	dbSNP_134	96	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SLC1A1	NM_004170.5		0,2,6501	TT,TC,CC	NA	0.0233,0.0,0.0154		308/525	4576049	2,13004	2203	4300	6503	SO:0001819	synonymous_variant				CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688	6505	6505		Solute carriers	10939	protein-coding gene	gene with protein product		133550			NA	8020993	Standard		NM_004170	NA	Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.924C>T	9.37:g.4576049C>T		NA	O75587|Q5VZ24|Q8N199|Q9UEW2	37	CCDS6452.1	.	.	.	.	.	.	.	.	.	.	C	6.928	0.540993	0.13250	0.0	2.33E-4	ENSG00000106688	ENST00000422398	.	.	.	5.39	-10.8	0.00216	.	.	.	.	.	T	0.41558	0.1164	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50800	-0.8785	4	.	.	.	.	5.2653	0.15595	0.1122:0.1072:0.1954:0.5853	.	.	.	.	C	71	.	.	R	+	1	0	SLC1A1	4566049	0.000000	0.05858	0.010000	0.14722	0.866000	0.49608	-5.152000	0.00146	-2.973000	0.00285	-0.768000	0.03414	CGT	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051571.1		+	ENST00000262352.3	Silent	SNP	9 : 4576049 - 4576049 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	391	69
RFTN2	130132	broad.mit.edu	37	2	198460774	198460774	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198460774T>C	ENST00000295049.4	-	8	1710	c.1174A>G	c.(1174-1176)Aag>Gag	p.K392E		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	NA						plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						ACGATCTGCTTTGTAGCCAAA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	85	88			NA	NA	2		NA											NA				198460774		2203	4300	6503	SO:0001583	missense			AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944	130132	130132			26402	protein-coding gene	gene with protein product			chromosome 2 open reading frame 11	C2orf11	NA		Standard	NM_144629	NM_144629	NA	Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.1174A>G	2.37:g.198460774T>C	ENSP00000295049:p.Lys392Glu	NA	Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	37	CCDS2323.1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.085166	0.36758	.	.	ENSG00000162944	ENST00000295049;ENST00000454447	T;T	0.43688	0.94;0.94	5.34	4.16	0.48862	.	0.277824	0.40222	N	0.001152	T	0.61375	0.2342	M	0.74647	2.275	0.44995	D	0.99801	D	0.89917	1.0	D	0.85130	0.997	T	0.64007	-0.6508	10	0.87932	D	0	-24.6818	9.6555	0.39923	0.1552:0.0:0.0:0.8448	.	392	Q52LD8	RFTN2_HUMAN	E	392;74	ENSP00000295049:K392E;ENSP00000387459:K74E	ENSP00000295049:K392E	K	-	1	0	RFTN2	198169019	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	4.844000	0.62846	1.126000	0.42016	-0.344000	0.07964	AAG	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256106.2		-	ENST00000295049.4	Missense_Mutation	SNP	2 : 198460774 - 198460774 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	306	45
GPR123	84435	broad.mit.edu	37	10	134942923	134942923	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134942923C>T	ENST00000392607.3	+	7	2027	c.1591C>T	c.(1591-1593)Ccc>Tcc	p.P531S	GPR123_ENST00000607359.1_Missense_Mutation_p.P1250S|GPR123_ENST00000392606.2_Missense_Mutation_p.P434S	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	531						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GAACGGGCTGCCCAAGGGTAA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	19	19			NA	NA	10		NA											NA				134942923		2198	4290	6488	SO:0001583	missense			AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177	84435	84435		-, GPCR / Class B : Orphans	13838	protein-coding gene	gene with protein product		612302			NA	12565841	Standard		XM_005252695	NA	Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.1591C>T	10.37:g.134942923C>T	ENSP00000376384:p.Pro531Ser	NA	A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	37	CCDS41580.1	.	.	.	.	.	.	.	.	.	.	.	10.03	1.239772	0.22711	.	.	ENSG00000197177	ENST00000368577;ENST00000392607;ENST00000392606	T	0.03717	3.83	4.48	3.57	0.40892	.	1.001760	0.08053	N	0.996883	T	0.03739	0.0106	N	0.24115	0.695	0.23076	N	0.998337	B;B	0.32324	0.015;0.364	B;B	0.24269	0.002;0.052	T	0.45891	-0.9230	10	0.62326	D	0.03	.	12.7013	0.57034	0.0:0.833:0.1669:0.0	.	531;1250	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	S	1250;531;435	ENSP00000376384:P531S	ENSP00000357566:P1250S	P	+	1	0	GPR123	134792913	1.000000	0.71417	0.108000	0.21378	0.151000	0.21798	1.687000	0.37680	0.995000	0.38917	0.561000	0.74099	CCC	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051113.2		+	ENST00000392607.3	Missense_Mutation	SNP	10 : 134942923 - 134942923 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	126	14
IGSF21	84966	broad.mit.edu	37	1	18703915	18703915	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18703915G>A	ENST00000251296.1	+	9	1706	c.1323G>A	c.(1321-1323)gaG>gaA	p.E441E		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	441						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GAGGAACGGAGGACTCTAATG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	120	120			NA	NA	1		NA											NA				18703915		2203	4300	6503	SO:0001819	synonymous_variant			AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154	84966	84966		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	28246	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_032880	NM_032880	NA	Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.1323G>A	1.37:g.18703915G>A		NA	Q8NBR8	37	CCDS184.1																																																																																			IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006924.1		+	ENST00000251296.1	Silent	SNP	1 : 18703915 - 18703915 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	429	29
CDK5RAP2	55755	broad.mit.edu	37	9	123206003	123206003	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123206003C>T	ENST00000349780.4	-	23	3222	c.3043G>A	c.(3043-3045)Gca>Aca	p.A1015T	CDK5RAP2_ENST00000359309.3_Intron|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.A1015T|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.A983T	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1015	Interaction with MAPRE1.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TGGTAGGCTGCTCCCACAGGG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	113	117			NA	NA	9		NA											NA				123206003		2203	4300	6503	SO:0001583	missense			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861	55755	55755			18672	protein-coding gene	gene with protein product	centrosomin	608201	microcephaly, primary autosomal recessive 3	MCPH3	NA	10721722, 17764569, 24466316	Standard	NM_018249	NM_018249	NA	Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.3043G>A	9.37:g.123206003C>T	ENSP00000343818:p.Ala1015Thr	NA	Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	37	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	C	2.372	-0.344123	0.05208	.	.	ENSG00000136861	ENST00000360822;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000345313	T;T;T;T	0.19669	3.8;3.81;3.71;2.13	4.71	-4.33	0.03677	.	1.501350	0.03992	N	0.295015	T	0.10165	0.0249	N	0.11560	0.145	0.25863	N	0.983799	B;B;B;B;B	0.06786	0.0;0.001;0.001;0.0;0.001	B;B;B;B;B	0.08055	0.003;0.002;0.003;0.001;0.003	T	0.27365	-1.0076	10	0.33141	T	0.24	.	5.7024	0.17889	0.0:0.2131:0.4026:0.3843	.	784;983;1015;1015;409	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8;B1AMJ5	.;.;.;CK5P2_HUMAN;.	T	983;1015;1015;409;787	ENSP00000354065:A983T;ENSP00000343818:A1015T;ENSP00000353317:A1015T;ENSP00000400395:A409T	ENSP00000341695:A787T	A	-	1	0	CDK5RAP2	122245824	0.212000	0.23540	0.113000	0.21522	0.317000	0.28152	-0.748000	0.04818	-0.899000	0.03901	-0.371000	0.07208	GCA	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055535.1		-	ENST00000349780.4	Missense_Mutation	SNP	9 : 123206003 - 123206003 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	531	77
PPP1R16A	84988	broad.mit.edu	37	8	145724155	145724155	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145724155C>T	ENST00000292539.4	+	3	1179	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	CTD-2517M22.14_ENST00000532766.1_RNA|PPP1R16A_ENST00000435887.1_Missense_Mutation_p.R88C|CTD-2517M14.5_ENST00000569326.1_RNA			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	88						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TTTTGCAGTCCGCCAGTTCCT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	48	48			NA	NA	8		NA											NA				145724155		2202	4300	6502	SO:0001583	missense				CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972	84988	84988		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Ankyrin repeat domain containing	14941	protein-coding gene	gene with protein product		609172	protein phosphatase 1, regulatory (inhibitor) subunit 16A		NA	11948623	Standard	NM_032902	NM_032902	NA	Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.262C>T	8.37:g.145724155C>T	ENSP00000292539:p.Arg88Cys	NA	D3DWM5	37	CCDS6429.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.688159	0.29962	.	.	ENSG00000160972	ENST00000292539;ENST00000435887	T;T	0.67345	-0.26;-0.26	4.65	2.82	0.32997	Ankyrin repeat-containing domain (4);	0.199760	0.40302	N	0.001134	T	0.62405	0.2425	M	0.69823	2.125	0.58432	D	0.999999	B	0.25351	0.124	B	0.27170	0.077	T	0.61969	-0.6953	10	0.48119	T	0.1	.	8.275	0.31866	0.0:0.8035:0.0:0.1965	.	88	Q96I34	PP16A_HUMAN	C	88	ENSP00000292539:R88C;ENSP00000391126:R88C	ENSP00000292539:R88C	R	+	1	0	PPP1R16A	145694963	0.005000	0.15991	0.996000	0.52242	0.385000	0.30292	0.365000	0.20348	1.095000	0.41419	0.462000	0.41574	CGC	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382459.1		+	ENST00000292539.4	Missense_Mutation	SNP	8 : 145724155 - 145724155 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	256	35
DICER1	23405	broad.mit.edu	37	14	95566220	95566220	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95566220C>T	ENST00000526495.1	-	24	4394	c.4103G>A	c.(4102-4104)cGc>cAc	p.R1368H	DICER1_ENST00000393063.1_Missense_Mutation_p.R1368H|DICER1_ENST00000527414.1_Missense_Mutation_p.R1368H|DICER1_ENST00000556045.1_Missense_Mutation_p.R266H|DICER1_ENST00000541352.1_Missense_Mutation_p.R1368H|DICER1_ENST00000343455.3_Missense_Mutation_p.R1368H			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1368	RNase III 1.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CACCACCATGCGGCTGGGTAG	0.403		NA	Mis F, N		sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	dicer 1, ribonuclease type III 		E, M, O	0													148	139	142			NA	NA	14		NA											NA				95566220		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697	23405	23405			17098	protein-coding gene	gene with protein product	dicer 1, double-stranded RNA-specific endoribonuclease	606241	Dicer1, Dcr-1 homolog (Drosophila), multinodular goitre 1	MNG1	NA	10051563, 10786632, 21205968	Standard		NM_177438	NA	Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.4103G>A	14.37:g.95566220C>T	ENSP00000437256:p.Arg1368His	NA	A7E2D3|O95943|Q9UQ02	37	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941045	0.92526	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.91	5.91	0.95273	Ribonuclease III (5);	0.000000	0.85682	D	0.000000	T	0.78188	0.4244	N	0.10809	0.05	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.992;0.989	T	0.74435	-0.3666	10	0.15952	T	0.53	-18.6466	20.2985	0.98592	0.0:1.0:0.0:0.0	.	266;1368;1368	B3KRG4;E0AD28;Q9UPY3	.;.;DICER_HUMAN	H	1368;1368;1368;1368;266;1368	ENSP00000343745:R1368H;ENSP00000437256:R1368H;ENSP00000376783:R1368H;ENSP00000435681:R1368H;ENSP00000451041:R266H;ENSP00000444719:R1368H	ENSP00000343745:R1368H	R	-	2	0	DICER1	94635973	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.456000	0.80751	2.793000	0.96121	0.655000	0.94253	CGC	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387997.1		-	ENST00000526495.1	Missense_Mutation	SNP	14 : 95566220 - 95566220 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	399	100
ITGA1	3672	broad.mit.edu	37	5	52145208	52145208	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52145208G>A	ENST00000282588.6	+	2	529	c.71G>A	c.(70-72)cGc>cAc	p.R24H		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	24					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GTTGTTCTACGCTGCTGCGTA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	138	138			NA	NA	5		NA											NA				52145208		2203	4300	6503	SO:0001583	missense			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949	3672	3672		CD molecules, Integrins	6134	protein-coding gene	gene with protein product		192968			NA	8428973, 11937138	Standard	NM_181501	NM_181501	NA	Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.71G>A	5.37:g.52145208G>A	ENSP00000282588:p.Arg24His	NA	B2RNU0	37	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	G	5.207	0.223791	0.09863	.	.	ENSG00000213949	ENST00000282588	D	0.85013	-1.93	5.53	3.64	0.41730	.	0.976260	0.08444	N	0.944947	T	0.69450	0.3112	N	0.12182	0.205	0.22112	N	0.999353	B	0.02656	0.0	B	0.01281	0.0	T	0.56171	-0.8023	10	0.13108	T	0.6	.	5.7312	0.18040	0.1697:0.1607:0.6696:0.0	.	24	P56199	ITA1_HUMAN	H	24	ENSP00000282588:R24H	ENSP00000282588:R24H	R	+	2	0	ITGA1	52180965	1.000000	0.71417	0.802000	0.32245	0.020000	0.10135	1.070000	0.30653	1.493000	0.48517	-0.138000	0.14375	CGC	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253855.3		+	ENST00000282588.6	Missense_Mutation	SNP	5 : 52145208 - 52145208 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	293	56
ZFP28	140612	broad.mit.edu	37	19	57060343	57060343	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57060343G>T	ENST00000301318.3	+	5	611	c.540G>T	c.(538-540)tgG>tgT	p.W180C	AC007228.11_ENST00000596587.1_RNA|ZFP28_ENST00000591844.1_Missense_Mutation_p.W180C	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AGGCTGTGTGGAAGATCAAGG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(124;554 1662 19430 21141 52494)							NA				0													62	58	59			NA	NA	19		NA											NA				57060343		2203	4300	6503	SO:0001583	missense				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867	140612	140612		Zinc fingers, C2H2-type, -	17801	protein-coding gene	gene with protein product			zinc finger protein 28 homolog (mouse)		NA		Standard	NM_020828	NM_020828	NA	Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.540G>T	19.37:g.57060343G>T	ENSP00000301318:p.Trp180Cys	NA	A0JNV6|Q9BY30|Q9P2B6	37	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	G	0.161	-1.080813	0.01888	.	.	ENSG00000196867	ENST00000301318	T	0.04970	3.52	4.34	-0.623	0.11556	.	2.748390	0.01538	N	0.019092	T	0.04634	0.0126	N	0.05230	-0.09	0.09310	N	1	B;P	0.47762	0.0;0.9	B;P	0.45913	0.0;0.497	T	0.15150	-1.0447	10	0.37606	T	0.19	.	4.3467	0.11136	0.251:0.0:0.5953:0.1537	.	180;180	Q8NHY6;A8K0L8	ZFP28_HUMAN;.	C	180	ENSP00000301318:W180C	ENSP00000301318:W180C	W	+	3	0	ZFP28	61752155	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	-0.339000	0.07832	-0.073000	0.12842	0.655000	0.94253	TGG	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458409.1		+	ENST00000301318.3	Missense_Mutation	SNP	19 : 57060343 - 57060343 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	194	30
SIGLEC8	27181	broad.mit.edu	37	19	51960443	51960443	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51960443G>A	ENST00000321424.3	-	3	842	c.776C>T	c.(775-777)gCc>gTc	p.A259V	SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000430817.1_Intron|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.A166V	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	259	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCTACCTGTGGCATCTCCTTG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	91	93			NA	NA	19		NA											NA				51960443		2203	4300	6503	SO:0001583	missense			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366	27181	27181		Sialic acid binding Ig-like lectins, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	10877	protein-coding gene	gene with protein product		605639			NA	10625619	Standard	NM_014442	XR_243922	NA	Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.776C>T	19.37:g.51960443G>A	ENSP00000321077:p.Ala259Val	NA	Q7Z728	37	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	4.032	0.003496	0.07866	.	.	ENSG00000105366	ENST00000321424;ENST00000340550	T;T	0.61859	0.07;1.16	2.01	-3.68	0.04463	Immunoglobulin-like (1);	1.464450	0.04674	N	0.411134	T	0.26484	0.0647	N	0.02368	-0.58	0.09310	N	1	B;B	0.18610	0.02;0.029	B;B	0.20577	0.03;0.028	T	0.07849	-1.0751	10	0.23891	T	0.37	.	3.4536	0.07507	0.0:0.3377:0.2129:0.4494	.	166;259	Q9NYZ4-2;Q9NYZ4	.;SIGL8_HUMAN	V	259;166	ENSP00000321077:A259V;ENSP00000339448:A166V	ENSP00000321077:A259V	A	-	2	0	SIGLEC8	56652255	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.241000	0.08940	-0.772000	0.04602	-1.650000	0.00758	GCC	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463648.2		-	ENST00000321424.3	Missense_Mutation	SNP	19 : 51960443 - 51960443 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	496	98
GAS2L3	283431	broad.mit.edu	37	12	101016096	101016096	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101016096G>A	ENST00000537247.1	+	9	1334	c.380G>A	c.(379-381)cGa>cAa	p.R127Q	GAS2L3_ENST00000266754.5_Missense_Mutation_p.R231Q|GAS2L3_ENST00000539410.1_Missense_Mutation_p.R231Q|GAS2L3_ENST00000547754.1_Missense_Mutation_p.R231Q			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	231	CH.				cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TGTTCTCATCGATTTTCTATT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	129	129			NA	NA	12		NA											NA				101016096		2203	4299	6502	SO:0001583	missense			AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354	283431	283431			27475	protein-coding gene	gene with protein product					NA		Standard	NM_174942	NM_174942	NA	Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000537247.1:c.380G>A	12.37:g.101016096G>A	ENSP00000442406:p.Arg127Gln	NA	B2RCN2	37		.	.	.	.	.	.	.	.	.	.	G	15.56	2.870349	0.51588	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.21543	2.0;2.0;2.02;2.0	5.9	5.9	0.94986	Growth-arrest-specific protein 2 domain (4);	0.189964	0.43919	D	0.000502	T	0.22475	0.0542	N	0.05158	-0.105	0.31358	N	0.681691	D	0.56287	0.975	P	0.57283	0.817	T	0.10753	-1.0616	10	0.17369	T	0.5	-14.7321	20.2723	0.98479	0.0:0.0:1.0:0.0	.	231	Q86XJ1	GA2L3_HUMAN	Q	231;231;127;231	ENSP00000266754:R231Q;ENSP00000448955:R231Q;ENSP00000442406:R127Q;ENSP00000439672:R231Q	ENSP00000266754:R231Q	R	+	2	0	GAS2L3	99540227	1.000000	0.71417	0.991000	0.47740	0.648000	0.38561	3.905000	0.56333	2.793000	0.96121	0.563000	0.77884	CGA	GAS2L3-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000409147.1		+	ENST00000537247.1	Missense_Mutation	SNP	12 : 101016096 - 101016096 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	65
AHNAK	79026	broad.mit.edu	37	11	62284885	62284885	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62284885G>A	ENST00000378024.4	-	5	17278	c.17004C>T	c.(17002-17004)ttC>ttT	p.F5668F	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5668					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CACGGCCAGAGAAGGTAAATT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	53	52			NA	NA	11		NA											NA				62284885		2202	4299	6501	SO:0001819	synonymous_variant			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942	79026	79026			347	protein-coding gene	gene with protein product	desmoyokin	103390	AHNAK nucleoprotein (desmoyokin)		NA	7987395, 12153988	Standard	NM_024060	NM_024060	NA	Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.17004C>T	11.37:g.62284885G>A		NA		37	CCDS31584.1																																																																																			AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395572.1		-	ENST00000378024.4	Silent	SNP	11 : 62284885 - 62284885 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	351	77
CNKSR3	154043	broad.mit.edu	37	6	154727608	154727608	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:154727608C>T	ENST00000479339.1	-	13	1658	c.1308G>A	c.(1306-1308)acG>acA	p.T436T	CNKSR3_ENST00000433165.2_Silent_p.T341T|CNKSR3_ENST00000607772.1_Silent_p.T516T			Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	516	DUF1170.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		GGAATGGAATCGTGGCGCTGC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	122	131			NA	NA	6		NA											NA				154727608		2203	4300	6503	SO:0001819	synonymous_variant			AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721	154043	154043		Sterile alpha motif (SAM) domain containing	23034	protein-coding gene	gene with protein product			membrane associated guanylate kinase interacting protein-like 1	MAGI1	NA		Standard	NM_173515	NM_173515	NA	Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000479339.1:c.1308G>A	6.37:g.154727608C>T		NA	Q5SGD5|Q96N65	37																																																																																				CNKSR3-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000348631.2		-	ENST00000479339.1	Silent	SNP	6 : 154727608 - 154727608 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	738	120
CYFIP2	26999	broad.mit.edu	37	5	156747679	156747679	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156747679C>T	ENST00000521420.1	+	14	1553	c.1462C>T	c.(1462-1464)Cga>Tga	p.R488*	CYFIP2_ENST00000522463.1_Nonsense_Mutation_p.R318*|CYFIP2_ENST00000347377.6_Nonsense_Mutation_p.R514*|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000377576.3_Nonsense_Mutation_p.R514*|CYFIP2_ENST00000541131.1_Nonsense_Mutation_p.R439*|CYFIP2_ENST00000435847.2_Nonsense_Mutation_p.R188*|CYFIP2_ENST00000318218.6_Nonsense_Mutation_p.R514*			Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	514					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACAGGCAATTCGAAAGACCAT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	60	60			NA	NA	5		NA											NA				156747679		1962	4140	6102	SO:0001587	stop_gained			AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163	26999	26999			13760	protein-coding gene	gene with protein product	p53 inducible protein	606323			NA	11438699	Standard	NM_001037332	NM_001037333	NA	Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1462C>T	5.37:g.156747679C>T	ENSP00000430904:p.Arg488*	NA	A6NLT2|D3DQJ3|Q53EN5|Q9NTK4|Q9ULQ2|Q9UN29	37		.	.	.	.	.	.	.	.	.	.	C	42	9.747593	0.99253	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	.	.	.	5.64	5.64	0.86602	.	0.054754	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.3411	15.3335	0.74231	0.1402:0.8597:0.0:0.0	.	.	.	.	X	514;318;488;514;514;439;188	.	ENSP00000325817:R514X	R	+	1	2	CYFIP2	156680257	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.859000	0.39418	2.664000	0.90586	0.655000	0.94253	CGA	CYFIP2-001	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000373710.1		+	ENST00000521420.1	Nonsense_Mutation	SNP	5 : 156747679 - 156747679 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	245	44
PLEKHG1	57480	broad.mit.edu	37	6	151139352	151139352	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151139352C>T	ENST00000358517.2	+	11	1523	c.1312C>T	c.(1312-1314)Cat>Tat	p.H438Y	PLEKHG1_ENST00000367328.1_Splice_Site_p.H438Y			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	438					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GGATGCCATTCGTAAGTTTTA	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	136	136			NA	NA	6		NA											NA				151139352		2203	4299	6502	SO:0001630	splice_region_variant			AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278	57480	57480		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	20884	protein-coding gene	gene with protein product					NA	10574462	Standard		XM_005267064	NA	Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.1312+1C>T	6.37:g.151139352C>T		NA	Q5T1F2	37	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887079	0.33348	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	D;D	0.87334	-2.24;-2.24	5.08	3.3	0.37823	Pleckstrin homology-type (1);	0.144593	0.64402	N	0.000007	T	0.65554	0.2702	L	0.27053	0.805	0.47276	D	0.999379	B;B;B	0.15141	0.012;0.007;0.007	B;B;B	0.13407	0.009;0.005;0.005	T	0.58803	-0.7572	10	0.26408	T	0.33	.	11.13	0.48341	0.0:0.7922:0.0:0.2078	.	245;438;438	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	Y	438	ENSP00000356297:H438Y;ENSP00000351318:H438Y	ENSP00000351318:H438Y	H	+	1	0	PLEKHG1	151181045	0.956000	0.32656	0.996000	0.52242	0.935000	0.57460	1.891000	0.39738	0.660000	0.30964	-0.122000	0.15005	CAT	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042691.1	Missense_Mutation	+	ENST00000358517.2	Splice_Site	SNP	6 : 151139352 - 151139352 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	446	58
FAT1	2195	broad.mit.edu	37	4	187535439	187535439	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187535439G>T	ENST00000441802.2	-	12	9344	c.9135C>A	c.(9133-9135)atC>atA	p.I3045I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3045	Cadherin 28.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTGTAGCAGAGATCTGCATGA	0.378		NA								HNSCC(5;0.00058)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(197;1040 2055 4143 4984 49344)							NA				0													148	140	142			NA	NA	4		NA											NA				187535439		1883	4106	5989	SO:0001819	synonymous_variant			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857	2195	2195		Cadherins / Cadherin-related	3595	protein-coding gene	gene with protein product	cadherin-related family member 8	600976	FAT tumor suppressor (Drosophila) homolog, FAT tumor suppressor homolog 1 (Drosophila)	FAT	NA	8586420	Standard	NM_005245	XM_005262834	NA	Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.9135C>A	4.37:g.187535439G>T		NA		37	CCDS47177.1																																																																																			FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360209.3		-	ENST00000441802.2	Silent	SNP	4 : 187535439 - 187535439 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	425	89
UBR4	23352	broad.mit.edu	37	1	19431088	19431088	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19431088T>C	ENST00000375254.3	-	86	12745	c.12718A>G	c.(12718-12720)Agt>Ggt	p.S4240G	UBR4_ENST00000375224.1_5'UTR|UBR4_ENST00000375226.2_Missense_Mutation_p.S4216G|UBR4_ENST00000375267.2_Missense_Mutation_p.S4240G|UBR4_ENST00000375217.2_Missense_Mutation_p.S4233G	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4240					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCTGTGAGACTTTTAAGGGCA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	58	62			NA	NA	1		NA											NA				19431088		2203	4300	6503	SO:0001583	missense			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481	23352	23352		Ubiquitin protein ligase E3 component n-recognins	30313	protein-coding gene	gene with protein product		609890	zinc finger, UBR1 type 1	ZUBR1	NA	14702039, 10718198, 16055722	Standard	NM_020765	XM_005245802	NA	Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.12718A>G	1.37:g.19431088T>C	ENSP00000364403:p.Ser4240Gly	NA	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	T	18.91	3.723048	0.68959	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.61324	0.2338	N	0.19112	0.55	0.80722	D	1	P	0.49447	0.924	P	0.57776	0.827	T	0.58177	-0.7682	10	0.22109	T	0.4	.	14.002	0.64439	0.0:0.0:0.0:1.0	.	4240	Q5T4S7	UBR4_HUMAN	G	4240;4240;4233;4216	ENSP00000364403:S4240G;ENSP00000364416:S4240G;ENSP00000364365:S4233G;ENSP00000364374:S4216G	ENSP00000364365:S4233G	S	-	1	0	UBR4	19303675	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.456000	0.80751	2.326000	0.78906	0.533000	0.62120	AGT	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007085.1		-	ENST00000375254.3	Missense_Mutation	SNP	1 : 19431088 - 19431088 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	141	17
R3HDM4	91300	broad.mit.edu	37	19	901987	901987	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:901987C>T	ENST00000361574.5	-	2	288	c.215G>A	c.(214-216)cGc>cAc	p.R72H	R3HDM4_ENST00000587975.1_Missense_Mutation_p.R51H	NM_138774.3	NP_620129.2	Q96D70	CS022_HUMAN	R3H domain containing 4	72						nucleus	nucleic acid binding				NA						GTTCTCCAGGCGCTGGAGGCT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	75	74			NA	NA	19		NA											NA				901987		2203	4299	6502	SO:0001583	missense			BC012775	CCDS12048.1	19p13.3	2011-11-23	2011-11-23	2011-11-23	ENSG00000198858	ENSG00000198858	91300	91300			28270	protein-coding gene	gene with protein product			chromosome 19 open reading frame 22	C19orf22	NA	12477932	Standard	NM_138774	NM_138774	NA	Approved	MGC16353	uc002lqg.2	Q96D70		ENST00000361574.5:c.215G>A	19.37:g.901987C>T	ENSP00000355385:p.Arg72His	NA		37	CCDS12048.1	.	.	.	.	.	.	.	.	.	.	C	33	5.194653	0.94960	.	.	ENSG00000198858	ENST00000361574	.	.	.	4.66	4.66	0.58398	.	0.000000	0.64402	U	0.000013	T	0.76579	0.4007	M	0.64404	1.975	0.58432	D	0.999991	D	0.89917	1.0	D	0.77004	0.989	T	0.79881	-0.1616	9	0.87932	D	0	-18.0615	16.0896	0.81084	0.0:1.0:0.0:0.0	.	72	Q96D70	CS022_HUMAN	H	72	.	ENSP00000355385:R72H	R	-	2	0	C19orf22	852987	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	4.928000	0.63447	2.147000	0.66899	0.462000	0.41574	CGC	R3HDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458209.1		-	ENST00000361574.5	Missense_Mutation	SNP	19 : 901987 - 901987 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	716	116
PLXDC1	57125	broad.mit.edu	37	17	37234180	37234180	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37234180C>A	ENST00000315392.4	-	11	1383	c.1172G>T	c.(1171-1173)aGc>aTc	p.S391I	PLXDC1_ENST00000539608.1_3'UTR|CTD-2206N4.4_ENST00000583447.1_RNA|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.S351I	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	391					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGTGGTGAGGCTGTCGATGAA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	101	113			NA	NA	17		NA											NA				37234180		2203	4300	6503	SO:0001583	missense			AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381	57125	57125			20945	protein-coding gene	gene with protein product	tumor endothelial marker 7 precursor	606826			NA	10947988, 11559528	Standard	NM_020405	NM_020405	NA	Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.1172G>T	17.37:g.37234180C>A	ENSP00000323927:p.Ser391Ile	NA	B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	37	CCDS11333.1	.	.	.	.	.	.	.	.	.	.	C	7.097	0.573369	0.13623	.	.	ENSG00000161381	ENST00000315392;ENST00000394318;ENST00000444911	T;T	0.43688	0.94;0.94	5.38	3.27	0.37495	.	0.841724	0.11355	N	0.572507	T	0.44664	0.1304	L	0.54323	1.7	0.80722	D	1	P;P	0.46395	0.838;0.877	P;P	0.47470	0.451;0.548	T	0.42292	-0.9460	10	0.59425	D	0.04	-28.3204	8.3469	0.32279	0.0:0.7454:0.162:0.0925	.	351;391	B4E173;Q8IUK5	.;PXDC1_HUMAN	I	391;318;351	ENSP00000323927:S391I;ENSP00000409687:S351I	ENSP00000323927:S391I	S	-	2	0	PLXDC1	34487706	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	1.321000	0.33678	1.506000	0.48736	-0.165000	0.13383	AGC	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256892.2		-	ENST00000315392.4	Missense_Mutation	SNP	17 : 37234180 - 37234180 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	67
PCDHGB7	56099	broad.mit.edu	37	5	140799067	140799067	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140799067C>A	ENST00000398594.2	+	1	1641	c.1641C>A	c.(1639-1641)agC>agA	p.S547R	PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018927.3	NP_061750.1			protocadherin gamma subfamily B, 7	NA										central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAATGTGAGCCTGCGCGTGT	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	34	32			NA	NA	5		NA											NA				140799067		2082	4197	6279	SO:0001583	missense			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122	56099	56099		Cadherins / Protocadherins : Clustered	8714	other	protocadherin	cadherin ME6	606304			NA	10380929	Standard	NM_018927	NM_032101	NA	Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1641C>A	5.37:g.140799067C>A	ENSP00000381594:p.Ser547Arg	NA		37	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	c	15.71	2.915298	0.52546	.	.	ENSG00000254122	ENST00000398594	T	0.51574	0.7	5.38	2.48	0.30137	Cadherin (5);Cadherin-like (1);	0.234553	0.20219	U	0.096729	T	0.51856	0.1699	L	0.45744	1.44	0.21841	N	0.999514	D;D	0.67145	0.996;0.972	D;P	0.68943	0.961;0.891	T	0.39502	-0.9611	10	0.87932	D	0	.	2.0696	0.03610	0.1243:0.4274:0.2234:0.2249	.	547;547	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	R	547	ENSP00000381594:S547R	ENSP00000381594:S547R	S	+	3	2	PCDHGB7	140779251	0.000000	0.05858	1.000000	0.80357	0.971000	0.66376	-0.059000	0.11731	1.270000	0.44297	0.491000	0.48974	AGC	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376973.1		+	ENST00000398594.2	Missense_Mutation	SNP	5 : 140799067 - 140799067 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	306	49
SPSB3	90864	broad.mit.edu	37	16	1827764	1827764	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1827764C>A	ENST00000566339.1	-	6	1035	c.705G>T	c.(703-705)aaG>aaT	p.K235N	SPSB3_ENST00000301717.4_Missense_Mutation_p.K235N	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	235	B30.2/SPRY.				intracellular signal transduction					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						ACTTCCTGTTCTTGAAAAAGG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	71	73			NA	NA	16		NA											NA				1827764		2199	4300	6499	SO:0001583	missense				CCDS32365.1	16p13.3	2008-02-05				ENSG00000162032	90864	90864			30629	protein-coding gene	gene with protein product		611659	chromosome 16 open reading frame 31	C16orf31	NA	12076535	Standard	NM_080861	NM_080861	NA	Approved	SSB-3	uc002cmu.3	Q6PJ21		ENST00000566339.1:c.705G>T	16.37:g.1827764C>A	ENSP00000457206:p.Lys235Asn	NA	D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	37	CCDS32365.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.779810	0.31502	.	.	ENSG00000162032	ENST00000301717;ENST00000360717	T	0.69806	-0.43	4.09	2.85	0.33270	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.73560	0.3602	L	0.58354	1.805	0.48395	D	0.999647	D	0.89917	1.0	D	0.83275	0.996	T	0.73665	-0.3911	10	0.62326	D	0.03	-18.758	5.8281	0.18564	0.0:0.6901:0.0:0.3099	.	235	Q6PJ21	SPSB3_HUMAN	N	235;39	ENSP00000301717:K235N	ENSP00000301717:K235N	K	-	3	2	SPSB3	1767765	1.000000	0.71417	0.999000	0.59377	0.578000	0.36192	1.369000	0.34227	1.821000	0.53095	0.561000	0.74099	AAG	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000433512.1		-	ENST00000566339.1	Missense_Mutation	SNP	16 : 1827764 - 1827764 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	54
ATG2A	23130	broad.mit.edu	37	11	64662641	64662641	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64662641G>A	ENST00000377264.3	-	41	5733	c.5621C>T	c.(5620-5622)tCg>tTg	p.S1874L	ATG2A_ENST00000421419.2_Missense_Mutation_p.S1876L	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1874							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						ATGGCCCCGCGATGCCACGTC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	LEU/SER	0,4400		0,0,2200	30	33	32		5621	3.8	0.1	11		32	1,8583		0,1,4291	no	missense	ATG2A	NM_015104.2	145	0,1,6491	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	1874/1939	64662641	1,12983	2200	4292	6492	SO:0001583	missense				CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046	23130	23130			29028	protein-coding gene	gene with protein product			ATG2 autophagy related 2 homolog A (S. cerevisiae)		NA	21887408	Standard	NM_015104	NM_015104	NA	Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.5621C>T	11.37:g.64662641G>A	ENSP00000366475:p.Ser1874Leu	NA	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	37	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022483	0.54683	0.0	1.16E-4	ENSG00000110046	ENST00000421419;ENST00000377262;ENST00000377264	T;T	0.07327	3.2;3.2	3.83	3.83	0.44106	Autophagy-related, C-terminal (1);	0.074853	0.53938	D	0.000047	T	0.08980	0.0222	L	0.32530	0.975	0.47308	D	0.99938	P;P	0.49862	0.929;0.912	P;B	0.45037	0.467;0.336	T	0.31475	-0.9942	10	0.31617	T	0.26	.	13.627	0.62170	0.0:0.0:1.0:0.0	.	1874;1876	Q2TAZ0;Q2TAZ0-3	ATG2A_HUMAN;.	L	1876;267;1874	ENSP00000410522:S1876L;ENSP00000366475:S1874L	ENSP00000366473:S267L	S	-	2	0	ATG2A	64419217	1.000000	0.71417	0.103000	0.21229	0.389000	0.30415	9.096000	0.94182	2.144000	0.66660	0.561000	0.74099	TCG	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000143224.1		-	ENST00000377264.3	Missense_Mutation	SNP	11 : 64662641 - 64662641 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	418	69
ARHGAP15	55843	broad.mit.edu	37	2	143959710	143959710	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:143959710G>T	ENST00000409869.1	+	4	350	c.173G>T	c.(172-174)aGa>aTa	p.R58I	ARHGAP15_ENST00000295095.6_Missense_Mutation_p.R58I			Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	58					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		CAGATATCCAGACACAGAAGG	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	109	109			NA	NA	2		NA											NA				143959710		2203	4299	6502	SO:0001583	missense			AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884	55843	55843		Rho GTPase activating proteins, Pleckstrin homology (PH) domain containing	21030	protein-coding gene	gene with protein product		610578			NA	12650940, 11042152	Standard	NM_018460	NM_018460	NA	Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000409869.1:c.173G>T	2.37:g.143959710G>T	ENSP00000386560:p.Arg58Ile	NA	Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	37		.	.	.	.	.	.	.	.	.	.	G	25.2	4.612348	0.87258	.	.	ENSG00000075884	ENST00000409869;ENST00000295095	T	0.08282	3.11	5.61	5.61	0.85477	.	0.068772	0.64402	D	0.000014	T	0.19087	0.0458	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;0.963	D;P	0.71184	0.972;0.495	T	0.02064	-1.1220	10	0.27082	T	0.32	.	17.8083	0.88608	0.0:0.0:1.0:0.0	.	58;58	B4E0R3;Q53QZ3	.;RHG15_HUMAN	I	58	ENSP00000295095:R58I	ENSP00000295095:R58I	R	+	2	0	ARHGAP15	143676180	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	6.321000	0.72881	2.646000	0.89796	0.585000	0.79938	AGA	ARHGAP15-002	PUTATIVE	not_organism_supported|not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000332175.1		+	ENST00000409869.1	Missense_Mutation	SNP	2 : 143959710 - 143959710 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	350	65
NR1I2	8856	broad.mit.edu	37	3	119533866	119533866	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119533866G>A	ENST00000393716.2	+	6	2674	c.835G>A	c.(835-837)Gcc>Acc	p.A279T	NR1I2_ENST00000337940.4_Missense_Mutation_p.A318T|NR1I2_ENST00000466380.1_Missense_Mutation_p.A242T	NM_003889.3	NP_003880	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	279	Ligand-binding.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	GCTGAAGGGGGCCGCTTTCGA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	52	55			NA	NA	3		NA											NA				119533866		2203	4300	6503	SO:0001583	missense			AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852	8856	8856		Nuclear hormone receptors	7968	protein-coding gene	gene with protein product	pregnane X receptor, orphan nuclear receptor PXR	603065			NA	9727070, 9770465	Standard		NM_003889	NA	Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000393716.2:c.835G>A	3.37:g.119533866G>A	ENSP00000377319:p.Ala279Thr	NA	Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	37	CCDS43136.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437170	0.62955	.	.	ENSG00000144852	ENST00000393716;ENST00000466380;ENST00000337940	D;D;D	0.95918	-3.85;-3.85;-3.85	4.31	4.31	0.51392	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.169319	0.52532	D	0.000078	D	0.96408	0.8828	M	0.78344	2.41	0.41774	D	0.989785	P;D;P	0.65815	0.956;0.995;0.69	B;P;B	0.58077	0.384;0.832;0.394	D	0.96231	0.9168	10	0.72032	D	0.01	.	9.8161	0.40853	0.0:0.0:0.795:0.205	.	279;318;265	O75469;F1D8P9;O75469-6	NR1I2_HUMAN;.;.	T	279;242;318	ENSP00000377319:A279T;ENSP00000420297:A242T;ENSP00000336528:A318T	ENSP00000336528:A318T	A	+	1	0	NR1I2	121016556	0.075000	0.21258	0.975000	0.42487	0.346000	0.29079	2.305000	0.43664	2.393000	0.81446	0.655000	0.94253	GCC	NR1I2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355127.1		+	ENST00000393716.2	Missense_Mutation	SNP	3 : 119533866 - 119533866 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	333	60
VWA3B	200403	broad.mit.edu	37	2	98928393	98928393	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98928393C>T	ENST00000477737.1	+	27	3837	c.3633C>T	c.(3631-3633)ccC>ccT	p.P1211P	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1211										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AAAAGAGGCCCGCCAAGCAGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													10	16	14			NA	NA	2		NA											NA				98928393		1852	4076	5928	SO:0001819	synonymous_variant			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658	200403	200403			28385	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_144992	NM_144992	NA	Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.3633C>T	2.37:g.98928393C>T		NA	B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	37	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	C	1.014	-0.687052	0.03328	.	.	ENSG00000168658	ENST00000473149	.	.	.	3.89	-6.28	0.02020	.	.	.	.	.	T	0.33847	0.0877	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.34900	-0.9810	4	.	.	.	.	13.2536	0.60066	0.0:0.1782:0.0:0.8218	.	.	.	.	C	622	.	.	R	+	1	0	VWA3B	98294825	0.000000	0.05858	0.000000	0.03702	0.244000	0.25665	-1.161000	0.03144	-1.552000	0.01704	-0.339000	0.08088	CGC	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353469.2		+	ENST00000477737.1	Silent	SNP	2 : 98928393 - 98928393 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	101	32
GPR61	83873	broad.mit.edu	37	1	110085846	110085846	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110085846G>A	ENST00000527748.1	+	2	885	c.202G>A	c.(202-204)Gcc>Acc	p.A68T	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	68						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGCCGTGATCGCCAAGACGCC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													173	160	165			NA	NA	1		NA											NA				110085846		2203	4300	6503	SO:0001583	missense			AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097	NA	83873		GPCR / Class A : Orphans	13300	protein-coding gene	gene with protein product		606916			NA	11165367, 11690637	Standard		NM_031936	NA	Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.202G>A	1.37:g.110085846G>A	ENSP00000432456:p.Ala68Thr	NA	A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	37	CCDS801.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566256	0.27915	.	.	ENSG00000156097	ENST00000527748;ENST00000286603	T	0.36699	1.24	5.33	5.33	0.75918	GPCR, rhodopsin-like superfamily (1);	0.060511	0.64402	D	0.000003	T	0.12433	0.0302	L	0.31752	0.955	0.45806	D	0.998682	B	0.31599	0.33	B	0.24394	0.053	T	0.06427	-1.0827	10	0.46703	T	0.11	-8.7647	8.7371	0.34534	0.0806:0.1531:0.7663:0.0	.	68	Q9BZJ8	GPR61_HUMAN	T	68;196	ENSP00000432456:A68T	ENSP00000286603:A196T	A	+	1	0	GPR61	109887369	0.851000	0.29673	0.952000	0.39060	0.679000	0.39708	1.313000	0.33585	2.479000	0.83701	0.561000	0.74099	GCC	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385575.1		+	ENST00000527748.1	Missense_Mutation	SNP	1 : 110085846 - 110085846 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	590	140
REN	5972	broad.mit.edu	37	1	204128549	204128549	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204128549C>T	ENST00000272190.8	-	5	695	c.667G>A	c.(667-669)Gtc>Atc	p.V223I	REN_ENST00000367195.2_Missense_Mutation_p.V223I	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	223					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	AAAGAGAAGACGTCCTCTTTT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	102	106			NA	NA	1		NA											NA				204128549		2203	4300	6503	SO:0001583	missense			BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	5972	5972	3.4.23.15		9958	protein-coding gene	gene with protein product		179820			NA		Standard	NM_000537	NM_000537	NA	Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.667G>A	1.37:g.204128549C>T	ENSP00000272190:p.Val223Ile	NA	Q6FI38|Q6T5C2	37	CCDS30981.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.291027	0.23564	.	.	ENSG00000143839	ENST00000367195;ENST00000545733;ENST00000272190	T;T	0.59906	0.23;0.23	5.35	4.44	0.53790	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.124071	0.56097	D	0.000033	T	0.52901	0.1763	L	0.31752	0.955	0.58432	D	0.999998	B	0.31949	0.348	P	0.45406	0.479	T	0.48375	-0.9041	10	0.25751	T	0.34	.	10.1333	0.42691	0.0:0.8451:0.0:0.1549	.	223	P00797	RENI_HUMAN	I	223;142;223	ENSP00000356163:V223I;ENSP00000272190:V223I	ENSP00000272190:V223I	V	-	1	0	REN	202395172	0.993000	0.37304	0.821000	0.32701	0.001000	0.01503	3.078000	0.50096	1.261000	0.44149	-0.300000	0.09419	GTC	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087891.1		-	ENST00000272190.8	Missense_Mutation	SNP	1 : 204128549 - 204128549 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	455	99
ABCA7	10347	broad.mit.edu	37	19	1046403	1046403	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1046403C>T	ENST00000263094.6	+	13	1851	c.1620C>T	c.(1618-1620)gaC>gaT	p.D540D	ABCA7_ENST00000533574.1_3'UTR|ABCA7_ENST00000433129.1_Silent_p.D540D|ABCA7_ENST00000435683.2_Silent_p.D402D	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	540					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGTGGACGACGTGTGAGCTC	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	116	116			NA	NA	19		NA											NA				1046403		2202	4297	6499	SO:0001819	synonymous_variant			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687	10347	10347		ATP binding cassette transporters / subfamily A	37	protein-coding gene	gene with protein product		605414			NA		Standard	NM_019112	NM_019112	NA	Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1620C>T	19.37:g.1046403C>T		NA	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	37	CCDS12055.1																																																																																			ABCA7-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394993.1		+	ENST00000263094.6	Silent	SNP	19 : 1046403 - 1046403 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1713	132
MAML2	84441	broad.mit.edu	37	11	95713041	95713041	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:95713041G>T	ENST00000524717.1	-	5	3826	c.2542C>A	c.(2542-2544)Ctc>Atc	p.L848I		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	848					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GTAGACAGGAGGCTGGAATTG	0.423		NA	T	MECT1, CRTC3	salivary gland mucoepidermoid									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0													153	143	146			NA	NA	11		NA											NA				95713041		1899	4115	6014	SO:0001583	missense			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384	84441	84441			16259	protein-coding gene	gene with protein product		607537	mastermind (Drosophila)-like 2		NA	12370315, 12386158	Standard		NM_032427	NA	Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.2542C>A	11.37:g.95713041G>T	ENSP00000434552:p.Leu848Ile	NA	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	37	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289942	0.40494	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.51817	0.69;0.69	5.23	5.23	0.72850	.	0.105832	0.41294	D	0.000913	T	0.57286	0.2043	L	0.29908	0.895	0.35936	D	0.832882	D	0.63880	0.993	D	0.68483	0.958	T	0.59621	-0.7420	10	0.30078	T	0.28	-17.0723	19.1576	0.93517	0.0:0.0:1.0:0.0	.	848	Q8IZL2	MAML2_HUMAN	I	848	ENSP00000434552:L848I;ENSP00000412394:L848I	ENSP00000412394:L848I	L	-	1	0	MAML2	95352689	1.000000	0.71417	1.000000	0.80357	0.019000	0.09904	5.101000	0.64566	2.598000	0.87819	0.650000	0.86243	CTC	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395540.1		-	ENST00000524717.1	Missense_Mutation	SNP	11 : 95713041 - 95713041 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	211	60
HNF4G	3174	broad.mit.edu	37	8	76452232	76452232	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:76452232A>G	ENST00000396423.2	+	1	129	c.5A>G	c.(4-6)gAc>gGc	p.D2G	HNF4G_ENST00000354370.1_Intron	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	0					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CTGGACATGGACATGGCAAAT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	138	139			NA	NA	8		NA											NA				76452232		1920	4138	6058	SO:0001583	missense				CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749	3174	3174		Nuclear hormone receptors	5026	protein-coding gene	gene with protein product		605966			NA	8622695, 12220494	Standard	NM_004133	NM_004133	NA	Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000396423.2:c.5A>G	8.37:g.76452232A>G	ENSP00000379701:p.Asp2Gly	NA	Q7Z2V9|Q9UH81|Q9UIS6	37	CCDS6220.2	.	.	.	.	.	.	.	.	.	.	A	14.84	2.655835	0.47467	.	.	ENSG00000164749	ENST00000396423	D	0.93189	-3.18	4.71	3.53	0.40419	.	0.000000	0.26594	U	0.023518	D	0.90710	0.7085	L	0.55990	1.75	0.40441	D	0.980048	B	0.30281	0.275	B	0.30716	0.119	D	0.89171	0.3537	10	0.87932	D	0	.	11.9732	0.53075	0.8552:0.1448:0.0:0.0	.	2	F1D8Q4	.	G	2	ENSP00000379701:D2G	ENSP00000379701:D2G	D	+	2	0	HNF4G	76614787	1.000000	0.71417	0.910000	0.35882	0.923000	0.55619	6.507000	0.73717	0.886000	0.36113	0.482000	0.46254	GAC	HNF4G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313913.1		+	ENST00000396423.2	Missense_Mutation	SNP	8 : 76452232 - 76452232 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	614	113
NOTCH3	4854	broad.mit.edu	37	19	15296115	15296115	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15296115C>A	ENST00000263388.2	-	14	2324	c.2249G>T	c.(2248-2250)aGc>aTc	p.S750I		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	750	EGF-like 19.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCCATCGCTGCTGCATGTCCC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	36	42			NA	NA	19		NA											NA				15296115		2201	4297	6498	SO:0001583	missense			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181	4854	4854		Ankyrin repeat domain containing	7883	protein-coding gene	gene with protein product		600276	Notch (Drosophila) homolog 3, Notch homolog 3 (Drosophila)	CADASIL	NA	7835890	Standard	NM_000435	NM_000435	NA	Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.2249G>T	19.37:g.15296115C>A	ENSP00000263388:p.Ser750Ile	NA	Q9UEB3|Q9UPL3|Q9Y6L8	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	1.670	-0.509253	0.04231	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	T	0.58940	0.3	5.04	0.389	0.16269	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.518457	0.14525	N	0.314219	T	0.28499	0.0705	N	0.10707	0.03	0.24311	N	0.995084	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.10314	-1.0635	10	0.31617	T	0.26	.	1.9816	0.03427	0.1487:0.1388:0.4477:0.2648	.	753;750	Q59FL3;Q9UM47	.;NOTC3_HUMAN	I	750;752	ENSP00000263388:S750I	ENSP00000263388:S750I	S	-	2	0	NOTCH3	15157115	0.125000	0.22332	0.922000	0.36590	0.109000	0.19521	0.849000	0.27723	-0.056000	0.13221	-0.356000	0.07607	AGC	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465714.1		-	ENST00000263388.2	Missense_Mutation	SNP	19 : 15296115 - 15296115 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	295	60
UNC13C	440279	broad.mit.edu	37	15	54527296	54527296	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54527296T>C	ENST00000260323.11	+	4	3140	c.3140T>C	c.(3139-3141)gTc>gCc	p.V1047A	UNC13C_ENST00000545554.1_Missense_Mutation_p.V1047A|UNC13C_ENST00000537900.1_Missense_Mutation_p.V1047A	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1047					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTGCCTATTGTCCGAGATGTG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	129	132			NA	NA	15		NA											NA				54527296		1853	4092	5945	SO:0001583	missense			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766	440279	440279			23149	protein-coding gene	gene with protein product		614568			NA		Standard	NM_173166	NM_001080534	NA	Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3140T>C	15.37:g.54527296T>C	ENSP00000260323:p.Val1047Ala	NA	Q0P613|Q8ND48|Q96NP3	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	T	19.56	3.849672	0.71603	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.85411	-1.97;-1.98;-1.94	5.67	5.67	0.87782	.	0.131907	0.49916	D	0.000125	D	0.92028	0.7474	M	0.80332	2.49	0.47862	D	0.999538	D	0.63880	0.993	D	0.70016	0.967	D	0.92958	0.6386	10	0.87932	D	0	.	14.1387	0.65306	0.0:0.0:0.0:1.0	.	1047	Q8NB66	UN13C_HUMAN	A	1047	ENSP00000260323:V1047A;ENSP00000438156:V1047A;ENSP00000442569:V1047A	ENSP00000260323:V1047A	V	+	2	0	UNC13C	52314588	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	6.601000	0.74136	2.287000	0.76781	0.482000	0.46254	GTC	UNC13C-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419028.3		+	ENST00000260323.11	Missense_Mutation	SNP	15 : 54527296 - 54527296 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	231	46
CAPS2	84698	broad.mit.edu	37	12	75692696	75692696	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75692696T>C	ENST00000393284.3	-	10	867	c.266A>G	c.(265-267)gAc>gGc	p.D89G	CAPS2_ENST00000442339.2_Intron|CAPS2_ENST00000409799.1_Intron|CAPS2_ENST00000409004.1_Intron|CAPS2_ENST00000409445.3_Missense_Mutation_p.D321G			Q9BXY5	CAYP2_HUMAN	calcyphosine 2	321							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						AAGGGATTGGTCATGAGTGAA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	86	87			NA	NA	12		NA											NA				75692696		2203	4300	6503	SO:0001583	missense			AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881	84698	84698		EF-hand domain containing	16471	protein-coding gene	gene with protein product		607724	calcyphosphine 2		NA	11846421	Standard		NM_032606	NA	Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000393284.3:c.266A>G	12.37:g.75692696T>C	ENSP00000376963:p.Asp89Gly	NA	Q6PH84|Q8N242|Q8NAY5	37		.	.	.	.	.	.	.	.	.	.	T	19.73	3.881570	0.72294	.	.	ENSG00000180881	ENST00000409445;ENST00000393284	T;T	0.51574	0.7;1.35	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.69815	0.3153	M	0.81942	2.565	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.68621	0.959;0.827	T	0.74386	-0.3682	10	0.66056	D	0.02	-11.7444	15.8224	0.78667	0.0:0.0:0.0:1.0	.	89;321	Q9BXY5-2;Q9BXY5	.;CAYP2_HUMAN	G	321;89	ENSP00000386959:D321G;ENSP00000376963:D89G	ENSP00000376963:D89G	D	-	2	0	CAPS2	73978963	1.000000	0.71417	0.993000	0.49108	0.691000	0.40173	6.064000	0.71169	2.149000	0.67028	0.519000	0.50382	GAC	CAPS2-009	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000383833.2		-	ENST00000393284.3	Missense_Mutation	SNP	12 : 75692696 - 75692696 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	280	51
PCNX	22990	broad.mit.edu	37	14	71575657	71575657	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71575657C>T	ENST00000304743.2	+	34	7084	c.6638C>T	c.(6637-6639)gCg>gTg	p.A2213V	PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000439984.3_Missense_Mutation_p.A2102V|PCNX_ENST00000238570.5_Missense_Mutation_p.A2141V	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2213						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGCTTTCTTGCGACAGAGGGA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	82	83			NA	NA	14		NA											NA				71575657		2203	4300	6503	SO:0001583	missense			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03					22990	22990			19740	protein-coding gene	gene with protein product			pecanex-like 1 (Drosophila)	PCNXL1	NA	9244429, 15777640	Standard	NM_014982	NM_014982	NA	Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.6638C>T	14.37:g.71575657C>T	ENSP00000304192:p.Ala2213Val	NA	O94897|Q96AI7|Q9Y2J9	37	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.31|17.31	3.357994|3.357994	0.61403|0.61403	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|.	0.11063|.	3.25;3.23;2.81|.	5.86|5.86	4.97|4.97	0.65823|0.65823	.|.	0.048553|.	0.85682|.	D|.	0.000000|.	T|.	0.34193|.	0.0889|.	N|N	0.08118|0.08118	0|0	0.31462|0.31462	N|N	0.669408|0.669408	B;B;B|.	0.15930|.	0.01;0.015;0.015|.	B;B;B|.	0.16722|.	0.016;0.008;0.004|.	T|.	0.35025|.	-0.9805|.	10|.	0.66056|.	D|.	0.02|.	.|.	16.8731|16.8731	0.86044|0.86044	0.0:0.1334:0.8666:0.0|0.0:0.1334:0.8666:0.0	.|.	2141;2102;2213|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	V|X	2213;2141;2102|1200	ENSP00000304192:A2213V;ENSP00000238570:A2141V;ENSP00000396617:A2102V|.	ENSP00000238570:A2141V|.	A|R	+|+	2|1	0|2	PCNX|PCNX	70645410|70645410	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.102000|0.102000	0.19082|0.19082	5.659000|5.659000	0.68010|0.68010	1.481000|1.481000	0.48307|0.48307	-0.357000|-0.357000	0.07601|0.07601	GCG|CGA	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412479.1		+	ENST00000304743.2	Missense_Mutation	SNP	14 : 71575657 - 71575657 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	495	41
DLG1	1739	broad.mit.edu	37	3	196921409	196921409	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196921409G>A	ENST00000346964.2	-	5	559	c.370C>T	c.(370-372)Caa>Taa	p.Q124*	DLG1_ENST00000392382.2_Nonsense_Mutation_p.Q124*|DLG1_ENST00000314062.3_Nonsense_Mutation_p.Q124*|DLG1_ENST00000448528.2_Nonsense_Mutation_p.Q124*|DLG1_ENST00000422288.1_Nonsense_Mutation_p.Q124*|DLG1_ENST00000450955.1_Nonsense_Mutation_p.Q124*|DLG1_ENST00000357674.4_Nonsense_Mutation_p.Q124*|DLG1_ENST00000419354.1_Nonsense_Mutation_p.Q124*|DLG1_ENST00000485409.1_5'UTR	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	124					actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TTTGTGATTTGTGGGGAAATA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	161	163			NA	NA	3		NA											NA				196921409		2203	4299	6502	SO:0001587	stop_gained			U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711	1739	1739			2900	protein-coding gene	gene with protein product	discs large homolog 1, presynaptic protein SAP97, synapse-associated protein 97	601014	discs, large (Drosophila) homolog 1		NA	7937897, 8825652	Standard	NM_004087	NM_004087	NA	Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000346964.2:c.370C>T	3.37:g.196921409G>A	ENSP00000345731:p.Gln124*	NA	A5YKK7|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|Q12958	37	CCDS3327.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192244	0.58017	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000422288;ENST00000448528;ENST00000392382;ENST00000450955;ENST00000453607;ENST00000456699;ENST00000392380;ENST00000419553	.	.	.	5.17	4.2	0.49525	.	0.370524	0.28214	N	0.016163	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	15.5045	0.75728	0.0:0.0:0.8523:0.1477	.	.	.	.	X	124;124;124;124;124;124;124;124;124;124;28;124;124;124	.	ENSP00000321087:Q124X	Q	-	1	0	DLG1	198405806	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.372000	0.59530	2.413000	0.81919	0.655000	0.94253	CAA	DLG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000242864.1		-	ENST00000346964.2	Nonsense_Mutation	SNP	3 : 196921409 - 196921409 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	319	47
ATP2C2	9914	broad.mit.edu	37	16	84442094	84442094	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84442094C>T	ENST00000416219.2	+	4	500	c.411C>T	c.(409-411)atC>atT	p.I137I	ATP2C2_ENST00000262429.4_Silent_p.I137I|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	137					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CCGTCAGCATCGCCACGGTGA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	44	43			NA	NA	16		NA											NA				84442094		2094	4226	6320	SO:0001819	synonymous_variant			AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	9914	9914	3.6.3.8	ATPases / P-type	29103	protein-coding gene	gene with protein product	secretory pathway calcium ATPase 2	613082			NA	9734811	Standard	NM_014861	XM_006721355	NA	Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000416219.2:c.411C>T	16.37:g.84442094C>T		NA	B4DU76|Q5S053|Q68CQ2	37		.	.	.	.	.	.	.	.	.	.	C	2.682	-0.275063	0.05679	.	.	ENSG00000064270	ENST00000420010	.	.	.	4.7	2.75	0.32379	.	.	.	.	.	T	0.46171	0.1379	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.39313	-0.9620	7	0.87932	D	0	.	6.9582	0.24583	0.0:0.7117:0.0:0.2883	.	7	F8WAA5	.	L	7	.	ENSP00000393378:S7L	S	+	2	0	ATP2C2	82999595	0.464000	0.25807	0.948000	0.38648	0.075000	0.17131	0.355000	0.20163	0.431000	0.26258	-0.362000	0.07510	TCG	ATP2C2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000433405.1		+	ENST00000416219.2	Silent	SNP	16 : 84442094 - 84442094 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	221	55
PIAS4	51588	broad.mit.edu	37	19	4028840	4028840	+	Silent	SNP	C	C	T	rs148838008		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4028840C>T	ENST00000262971.2	+	6	910	c.795C>T	c.(793-795)taC>taT	p.Y265Y		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	265	PINIT.				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGGAACTACGGCAAGGTGA	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	90	79	82		795	-4.4	1	19	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PIAS4	NM_015897.2		0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077		265/511	4028840	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF077952	CCDS12118.1	19p13.3	2011-10-11					51588	51588		Zinc fingers, MIZ-type	17002	protein-coding gene	gene with protein product	zinc finger, MIZ-type containing 6	605989			NA	9724754	Standard	NM_015897	NM_015897	NA	Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.795C>T	19.37:g.4028840C>T		NA	O75926|Q96G19|Q9UN16	37	CCDS12118.1																																																																																			PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457496.1		+	ENST00000262971.2	Silent	SNP	19 : 4028840 - 4028840 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	376	57
STRAP	11171	broad.mit.edu	37	12	16047046	16047046	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:16047046C>T	ENST00000419869.2	+	5	782	c.469C>T	c.(469-471)Cag>Tag	p.Q157*	STRAP_ENST00000025399.6_Nonsense_Mutation_p.Q170*|STRAP_ENST00000538352.1_Nonsense_Mutation_p.Q63*	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	157					mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				TGAGGATAAACAGATTCTTTC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	123	119			NA	NA	12		NA											NA				16047046		2203	4300	6503	SO:0001587	stop_gained			AB024327	CCDS8676.1	12p13.1	2013-01-10			ENSG00000023734	ENSG00000023734	11171	11171		WD repeat domain containing	30796	protein-coding gene	gene with protein product	Unr-interacting protein	605986			NA		Standard	NM_007178	NM_007178	NA	Approved	UNRIP, pt-wd, MAWD	uc001rdc.4	Q9Y3F4	OTTHUMG00000168791	ENST00000419869.2:c.469C>T	12.37:g.16047046C>T	ENSP00000392270:p.Gln157*	NA	B2R5S5|Q5TZT4|Q9NTK0|Q9UQC8	37	CCDS8676.1	.	.	.	.	.	.	.	.	.	.	C	39	7.479135	0.98309	.	.	ENSG00000023734	ENST00000538352;ENST00000025399;ENST00000419869	.	.	.	4.18	4.18	0.49190	.	0.054356	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-9.3112	17.0353	0.86473	0.0:1.0:0.0:0.0	.	.	.	.	X	63;170;157	.	ENSP00000025399:Q170X	Q	+	1	0	STRAP	15938313	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.242000	0.78210	2.319000	0.78375	0.650000	0.86243	CAG	STRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401114.1		+	ENST00000419869.2	Nonsense_Mutation	SNP	12 : 16047046 - 16047046 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	469	17
EPHA5	2044	broad.mit.edu	37	4	66356255	66356255	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:66356255G>A	ENST00000273854.3	-	5	1842	c.1242C>T	c.(1240-1242)taC>taT	p.Y414Y	EPHA5_ENST00000511294.1_Silent_p.Y414Y|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Silent_p.Y414Y	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	414	Fibronectin type-III 1.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GCCGGGGAAGGTACCTGACAT	0.493		NA								TSP Lung(17;0.13)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	95	104			NA	NA	4		NA											NA				66356255		2203	4300	6503	SO:0001819	synonymous_variant			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242	2044	2044		EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3389	protein-coding gene	gene with protein product		600004	EphA5		NA	9267020, 7528718	Standard	NM_004439	NM_004439	NA	Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1242C>T	4.37:g.66356255G>A		NA	Q7Z3F2	37	CCDS3513.1																																																																																			EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251388.2		-	ENST00000273854.3	Silent	SNP	4 : 66356255 - 66356255 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	352	62
NTNG2	84628	broad.mit.edu	37	9	135117335	135117335	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135117335G>A	ENST00000393229.3	+	8	2206	c.1430G>A	c.(1429-1431)tGc>tAc	p.C477Y	NTNG2_ENST00000490694.1_3'UTR|NTNG2_ENST00000360670.3_Missense_Mutation_p.C483Y|NTNG2_ENST00000393228.4_Missense_Mutation_p.C469Y	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	477					axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CGCTGCGCCTGCCCGCGCGGC	0.761		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													6	6	6			NA	NA	9		NA											NA				135117335		1984	3955	5939	SO:0001583	missense			AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358	84628	84628		Netrins	14288	protein-coding gene	gene with protein product	Netrin-G2		netrin G1	NTNG1	NA		Standard	NM_032536	NM_032536	NA	Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.1430G>A	9.37:g.135117335G>A	ENSP00000376921:p.Cys477Tyr	NA	Q5JUJ2|Q6UXY0|Q96JH0	37	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370429	0.82573	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670	D;D;D	0.99837	-7.06;-7.06;-7.06	3.5	3.5	0.40072	EGF, extracellular (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.99906	0.9955	H	0.99507	4.6	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.95924	0.8933	10	0.87932	D	0	.	14.1615	0.65450	0.0:0.0:1.0:0.0	.	477	Q96CW9	NTNG2_HUMAN	Y	477;469;483	ENSP00000376921:C477Y;ENSP00000376920:C469Y;ENSP00000353888:C483Y	ENSP00000353888:C483Y	C	+	2	0	NTNG2	134107156	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	8.688000	0.91260	1.788000	0.52465	0.491000	0.48974	TGC	NTNG2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054779.1		+	ENST00000393229.3	Missense_Mutation	SNP	9 : 135117335 - 135117335 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	61	12
BZRAP1	9256	broad.mit.edu	37	17	56389920	56389920	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56389920G>A	ENST00000268893.6	-	16	2921	c.2082C>T	c.(2080-2082)agC>agT	p.S694S	BZRAP1_ENST00000343736.4_Silent_p.S754S|BZRAP1_ENST00000355701.3_Silent_p.S754S	NM_024418.2	NP_077729.1	O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	754	SH3 1.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTTGGCCCCCGCTACTGCTGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	58	62			NA	NA	17		NA											NA				56389920		2203	4300	6503	SO:0001819	synonymous_variant			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09				9256	9256			16831	protein-coding gene	gene with protein product		610764			NA	9734811, 9915832	Standard	NM_004758	NM_004758	NA	Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000268893.6:c.2082C>T	17.37:g.56389920G>A		NA	O75111|Q8N5W3	37	CCDS45742.1																																																																																			BZRAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443978.1		-	ENST00000268893.6	Silent	SNP	17 : 56389920 - 56389920 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	559	99
BYSL	705	broad.mit.edu	37	6	41895197	41895197	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41895197C>T	ENST00000230340.4	+	2	729	c.354C>T	c.(352-354)ggC>ggT	p.G118G		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	118					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CAGCAGCGGGCCATCATGCAG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	125	130			NA	NA	6		NA											NA				41895197		2203	4300	6503	SO:0001819	synonymous_variant			L36720	CCDS34450.1	6p21.1	2008-08-29			ENSG00000112578	ENSG00000112578	705	705			1157	protein-coding gene	gene with protein product		603871			NA	9925933, 17381424	Standard		NM_004053	NA	Approved		uc003orl.3	Q13895	OTTHUMG00000014687	ENST00000230340.4:c.354C>T	6.37:g.41895197C>T		NA	Q6P5W4|Q86W44|Q96IP8	37	CCDS34450.1																																																																																			BYSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040535.2		+	ENST00000230340.4	Silent	SNP	6 : 41895197 - 41895197 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	494	80
PDE8B	8622	broad.mit.edu	37	5	76715655	76715655	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76715655A>C	ENST00000264917.5	+	19	2238	c.2193A>C	c.(2191-2193)aaA>aaC	p.K731N	PDE8B_ENST00000346042.3_Missense_Mutation_p.K634N|PDE8B_ENST00000340978.3_Missense_Mutation_p.K684N|PDE8B_ENST00000505283.1_Missense_Mutation_p.K196N|PDE8B_ENST00000342343.4_Missense_Mutation_p.K711N|PDE8B_ENST00000333194.4_Missense_Mutation_p.K676N	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	731	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		AGATGACAAAACACTTTGAAC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	109	116			NA	NA	5		NA											NA				76715655		2203	4300	6503	SO:0001583	missense			AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	8622	8622	3.1.4.17	Phosphodiesterases	8794	protein-coding gene	gene with protein product		603390			NA	9784418	Standard	NM_003719	NM_003719	NA	Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.2193A>C	5.37:g.76715655A>C	ENSP00000264917:p.Lys731Asn	NA	Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	37	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.065729	0.55539	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194;ENST00000505283	T;T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14	5.87	3.53	0.40419	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.043664	0.85682	D	0.000000	T	0.72819	0.3508	L	0.38838	1.175	0.46521	D	0.999086	B;P;P;P;P	0.46706	0.27;0.858;0.596;0.858;0.883	B;P;B;P;P	0.50754	0.145;0.517;0.259;0.517;0.649	T	0.71955	-0.4436	10	0.59425	D	0.04	.	5.9761	0.19379	0.6459:0.0:0.3541:0.0	.	634;684;676;711;731	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	N	684;634;731;711;676;196	ENSP00000345446:K684N;ENSP00000330428:K634N;ENSP00000264917:K731N;ENSP00000345646:K711N;ENSP00000331336:K676N;ENSP00000423461:K196N	ENSP00000264917:K731N	K	+	3	2	PDE8B	76751411	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.847000	0.39299	1.054000	0.40438	0.533000	0.62120	AAA	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000220015.3		+	ENST00000264917.5	Missense_Mutation	SNP	5 : 76715655 - 76715655 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	384	14
ZNF644	84146	broad.mit.edu	37	1	91405961	91405961	+	Missense_Mutation	SNP	T	T	G	rs145118167		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91405961T>G	ENST00000370440.1	-	3	1167	c.950A>C	c.(949-951)aAa>aCa	p.K317T	ZNF644_ENST00000337393.5_Missense_Mutation_p.K317T|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	317					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CATTTTTGATTTATTGGGTAC	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	86	86			NA	NA	1		NA											NA				91405961		2203	4299	6502	SO:0001583	missense			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482	84146	84146			29222	protein-coding gene	gene with protein product		614159			NA	10574462	Standard	NM_032186	NM_032186	NA	Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.950A>C	1.37:g.91405961T>G	ENSP00000359469:p.Lys317Thr	NA	A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	37	CCDS731.1	.	.	.	.	.	.	.	.	.	.	T	14.90	2.673492	0.47781	.	.	ENSG00000122482	ENST00000370440;ENST00000337393	T;T	0.00609	6.24;6.24	5.58	5.58	0.84498	.	0.111999	0.64402	D	0.000005	T	0.00328	0.0010	L	0.32530	0.975	0.48696	D	0.999694	B	0.29212	0.237	B	0.22880	0.042	T	0.72151	-0.4377	10	0.48119	T	0.1	-16.216	15.756	0.78025	0.0:0.0:0.0:1.0	.	317	Q9H582	ZN644_HUMAN	T	317	ENSP00000359469:K317T;ENSP00000337008:K317T	ENSP00000337008:K317T	K	-	2	0	ZNF644	91178549	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	5.699000	0.68310	2.131000	0.65755	0.533000	0.62120	AAA	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000027846.2		-	ENST00000370440.1	Missense_Mutation	SNP	1 : 91405961 - 91405961 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	334	77
IRF8	3394	broad.mit.edu	37	16	85952190	85952190	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85952190G>A	ENST00000268638.5	+	7	1191	c.769G>A	c.(769-771)Gcc>Acc	p.A257T	IRF8_ENST00000562492.1_Missense_Mutation_p.A53T	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	257					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GCCGGCCGACGCCATCCCCAG	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	18	17			NA	NA	16		NA											NA				85952190		2154	4243	6397	SO:0001583	missense			M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968	3394	3394			5358	protein-coding gene	gene with protein product		601565	interferon consensus sequence binding protein 1	ICSBP1	NA	1460054, 11997525	Standard	NM_002163	NM_002163	NA	Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.769G>A	16.37:g.85952190G>A	ENSP00000268638:p.Ala257Thr	NA	A0AV82	37	CCDS10956.1	.	.	.	.	.	.	.	.	.	.	G	9.219	1.032788	0.19590	.	.	ENSG00000140968	ENST00000268638	D	0.95272	-3.66	5.1	-10.2	0.00374	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.932551	0.09287	N	0.822867	D	0.82540	0.5059	N	0.21583	0.68	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.70421	-0.4876	10	0.14656	T	0.56	-2.6013	2.0591	0.03587	0.46:0.1642:0.21:0.1658	.	257	Q02556	IRF8_HUMAN	T	257	ENSP00000268638:A257T	ENSP00000268638:A257T	A	+	1	0	IRF8	84509691	0.000000	0.05858	0.029000	0.17559	0.913000	0.54294	-0.493000	0.06459	-2.503000	0.00509	-0.142000	0.14014	GCC	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269100.2		+	ENST00000268638.5	Missense_Mutation	SNP	16 : 85952190 - 85952190 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	81
ZNF274	10782	broad.mit.edu	37	19	58723727	58723727	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58723727C>A	ENST00000597818.1	+	0	1367				ZNF274_ENST00000424679.2_Missense_Mutation_p.L288I|ZNF274_ENST00000345813.3_Missense_Mutation_p.L361I|ZNF274_ENST00000326804.4_Missense_Mutation_p.L393I			Q96GC6	ZN274_HUMAN	zinc finger protein 274	NA					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		GGAAAAAGACCTTCCTCAGAA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	82	82			NA	NA	19		NA											NA				58723727		2031	4189	6220	SO:0001624	3_prime_UTR_variant			AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606	10782	10782		Zinc fingers, C2H2-type, -, -, -	13068	protein-coding gene	gene with protein product		605467			NA	10777669	Standard	NM_133502	NM_133502	NA	Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000597818.1:c.*1364C>A	19.37:g.58723727C>A		NA	Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	37		.	.	.	.	.	.	.	.	.	.	C	13.18	2.160475	0.38119	.	.	ENSG00000171606	ENST00000326804;ENST00000345813;ENST00000424679	T;T;T	0.07327	3.34;3.21;3.2	4.71	2.5	0.30297	.	0.803124	0.10301	N	0.691197	T	0.05686	0.0149	.	.	.	0.09310	N	1	B;B;B	0.20780	0.021;0.048;0.028	B;B;B	0.18561	0.013;0.022;0.01	T	0.43475	-0.9389	9	0.24483	T	0.36	-2.4602	7.8969	0.29712	0.1834:0.6397:0.1769:0.0	.	289;362;394	Q96GC6-3;Q96GC6-2;Q96GC6	.;.;ZN274_HUMAN	I	393;361;288	ENSP00000321209:L393I;ENSP00000321187:L361I;ENSP00000409872:L288I	ENSP00000321209:L393I	L	+	1	0	ZNF274	63415539	0.000000	0.05858	0.005000	0.12908	0.140000	0.21249	0.499000	0.22546	0.675000	0.31264	0.561000	0.74099	CTT	ZNF274-002	KNOWN	sequence_error|basic	processed_transcript	NA	protein_coding	OTTHUMT00000466736.1		+	ENST00000597818.1	3'UTR	SNP	19 : 58723727 - 58723727 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	211	53
SNRPN	6638	broad.mit.edu	37	15	25221477	25221477	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25221477C>T	ENST00000554227.2	+	8	1126	c.193C>T	c.(193-195)Cgt>Tgt	p.R65C	SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000346403.6_Missense_Mutation_p.R61C|SNRPN_ENST00000400100.1_Missense_Mutation_p.R61C|SNRPN_ENST00000577565.1_Missense_Mutation_p.R61C|SNRPN_ENST00000390687.4_Missense_Mutation_p.R61C|SNRPN_ENST00000400098.1_Missense_Mutation_p.R61C|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000444203.2_Missense_Mutation_p.R65C|SNRPN_ENST00000400097.1_Missense_Mutation_p.R61C			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	61					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding	p.R61C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GCAACCAGAGCGTGAAGAAAA	0.428		NA							Prader-Willi syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											87	91	89			NA	NA	15		NA											NA				25221477		1900	4118	6018	SO:0001583	missense	Familial Cancer Database	Prader-Labhart-Willi syndrome	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739	6638	6638			11164	protein-coding gene	gene with protein product	tissue-specific splicing protein, SM protein N, small nuclear ribonucleoprotein N	182279	Prader-Willi syndrome chromosome region	PWCR	NA	1533223	Standard	NM_003097	NM_022805	NA	Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000554227.2:c.193C>T	15.37:g.25221477C>T	ENSP00000452342:p.Arg65Cys	NA	P14648|P17135|Q0D2Q5	37		.	.	.	.	.	.	.	.	.	.	C	15.61	2.885805	0.51908	.	.	ENSG00000128739	ENST00000400100;ENST00000400098;ENST00000400097;ENST00000554227;ENST00000390687;ENST00000444203	T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74	4.21	1.22	0.21188	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.137297	0.48767	D	0.000174	T	0.47358	0.1441	M	0.88979	2.995	0.80722	D	1	P;P	0.34997	0.479;0.479	B;B	0.32677	0.15;0.15	T	0.45716	-0.9242	10	0.62326	D	0.03	-1.3672	5.3002	0.15773	0.1637:0.651:0.0:0.1853	.	65;61	B3KVR1;P63162	.;RSMN_HUMAN	C	61;61;61;65;61;65	ENSP00000382972:R61C;ENSP00000382970:R61C;ENSP00000382969:R61C;ENSP00000452342:R65C;ENSP00000375105:R61C;ENSP00000408767:R65C	ENSP00000375105:R61C	R	+	1	0	SNRPN	22772570	1.000000	0.71417	0.987000	0.45799	0.988000	0.76386	4.028000	0.57246	0.296000	0.22592	0.591000	0.81541	CGT	SNRPN-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000413841.2		+	ENST00000554227.2	Missense_Mutation	SNP	15 : 25221477 - 25221477 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	374	51
ARHGAP6	395	broad.mit.edu	37	X	11157333	11157333	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:11157333G>T	ENST00000337414.4	-	13	3447	c.2575C>A	c.(2575-2577)Ctg>Atg	p.L859M	ARHGAP6_ENST00000303025.6_Missense_Mutation_p.L656M|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.L656M|ARHGAP6_ENST00000534860.1_Intron	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	859					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CGGCTCTGCAGCCCGGCCACA	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													9	9	9			NA	NA	X		NA											NA				11157333		2167	4245	6412	SO:0001583	missense			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648	395	395		Rho GTPase activating proteins	676	protein-coding gene	gene with protein product		300118			NA	9417914	Standard	NM_013427	XM_005274507	NA	Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.2575C>A	X.37:g.11157333G>T	ENSP00000338967:p.Leu859Met	NA	B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	37	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944809	0.34283	.	.	ENSG00000047648	ENST00000380736;ENST00000303025;ENST00000337414	T;T;T	0.24723	1.85;1.85;1.84	5.12	4.24	0.50183	.	1.112630	0.07024	N	0.827272	T	0.22437	0.0541	L	0.51422	1.61	0.09310	N	1	P;P	0.38642	0.641;0.641	B;B	0.34722	0.188;0.188	T	0.24119	-1.0169	10	0.45353	T	0.12	.	4.1956	0.10441	0.2167:0.0:0.5931:0.1901	.	859;859	O43182;A8KAL3	RHG06_HUMAN;.	M	656;656;859	ENSP00000370112:L656M;ENSP00000302312:L656M;ENSP00000338967:L859M	ENSP00000302312:L656M	L	-	1	2	ARHGAP6	11067254	0.088000	0.21588	0.626000	0.29213	0.025000	0.11179	1.709000	0.37909	2.116000	0.64780	0.594000	0.82650	CTG	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055760.2		-	ENST00000337414.4	Missense_Mutation	SNP	X : 11157333 - 11157333 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	69	20
MAP3K7	6885	broad.mit.edu	37	6	91254333	91254333	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:91254333C>T	ENST00000369329.3	-	12	1390	c.1229G>A	c.(1228-1230)cGg>cAg	p.R410Q	MAP3K7_ENST00000369320.1_Intron|MAP3K7_ENST00000369327.3_Intron|MAP3K7_ENST00000369325.3_Missense_Mutation_p.R410Q|MAP3K7_ENST00000369332.3_Intron	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	410					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|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|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		ACGGTGGCCCCGTTTAGGCTT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	115	116			NA	NA	6		NA											NA				91254333		2203	4300	6503	SO:0001583	missense			AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341	6885	6885		Mitogen-activated protein kinase cascade / Kinase kinase kinases	6859	protein-coding gene	gene with protein product		602614		TAK1	NA	9466656	Standard	NM_145331	NM_003188	NA	Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.1229G>A	6.37:g.91254333C>T	ENSP00000358335:p.Arg410Gln	NA	B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7	37	CCDS5028.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957146	0.73902	.	.	ENSG00000135341	ENST00000369329;ENST00000369325	T;T	0.76316	-0.98;-1.01	5.47	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.57301	0.2044	N	0.03608	-0.345	0.80722	D	1	B;D	0.64830	0.401;0.994	B;P	0.61201	0.02;0.885	T	0.63554	-0.6611	10	0.09338	T	0.73	.	16.2921	0.82757	0.0:0.8672:0.1328:0.0	.	410;410	O43318-3;O43318	.;M3K7_HUMAN	Q	410	ENSP00000358335:R410Q;ENSP00000358331:R410Q	ENSP00000358331:R410Q	R	-	2	0	MAP3K7	91311054	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.646000	0.61411	1.302000	0.44855	0.491000	0.48974	CGG	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041530.1		-	ENST00000369329.3	Missense_Mutation	SNP	6 : 91254333 - 91254333 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	13
MYO18A	399687	broad.mit.edu	37	17	27430619	27430619	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27430619G>A	ENST00000527372.1	-	21	3685	c.3505C>T	c.(3505-3507)Cgg>Tgg	p.R1169W	MYO18A_ENST00000533112.1_Missense_Mutation_p.R1169W|MYO18A_ENST00000354329.4_Missense_Mutation_p.R1169W|MYO18A_ENST00000531253.1_Missense_Mutation_p.R1169W	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1169	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CAACTCACCCGGCTCAGGCCC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(182;472 2015 7001 15270 22562)							NA				0													45	51	49			NA	NA	17		NA											NA				27430619		2057	4200	6257	SO:0001583	missense			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535	399687	399687		Myosins / Myosin superfamily : Class XVIII	31104	protein-coding gene	gene with protein product		610067			NA	12761286	Standard	NM_078471	NM_078471	NA	Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.3505C>T	17.37:g.27430619G>A	ENSP00000437073:p.Arg1169Trp	NA	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	37	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387448	0.82902	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39	5.29	5.29	0.74685	Myosin head, motor domain (2);	0.101322	0.64402	D	0.000002	D	0.92492	0.7616	L	0.52011	1.625	0.44337	D	0.997222	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.73380	0.946;0.95;0.96;0.942;0.98	D	0.93184	0.6577	10	0.87932	D	0	.	15.8522	0.78940	0.0:0.0:1.0:0.0	.	838;781;1169;1169;1169	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	W	1169;1169;1169;1169;1169;65;65;781	ENSP00000346291:R1169W;ENSP00000435932:R1169W;ENSP00000434228:R1169W;ENSP00000437073:R1169W	ENSP00000346291:R1169W	R	-	1	2	MYO18A	24454745	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.168000	0.71908	2.464000	0.83262	0.561000	0.74099	CGG	MYO18A-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389396.1		-	ENST00000527372.1	Missense_Mutation	SNP	17 : 27430619 - 27430619 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	284	62
KPRP	448834	broad.mit.edu	37	1	152732646	152732646	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152732646G>A	ENST00000606109.1	+	1	610	c.582G>A	c.(580-582)caG>caA	p.Q194Q	KPRP_ENST00000368773.1_Silent_p.Q194Q			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	194	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGCCCCCAGTTTCAGTCAA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	147	148			NA	NA	1		NA											NA				152732646		2203	4300	6503	SO:0001819	synonymous_variant			AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786	448834	448834			31823	protein-coding gene	gene with protein product		613260	chromosome 1 open reading frame 45	C1orf45	NA	16297201	Standard	NM_001025231	NM_001025231	NA	Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.582G>A	1.37:g.152732646G>A		NA		37	CCDS30862.1																																																																																			KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034522.2		+	ENST00000606109.1	Silent	SNP	1 : 152732646 - 152732646 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	872	235
BCS1L	617	broad.mit.edu	37	2	219525943	219525943	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219525943G>A	ENST00000431802.1	+	2	932	c.233G>A	c.(232-234)aGt>aAt	p.S78N	BCS1L_ENST00000392110.2_Missense_Mutation_p.S78N|BCS1L_ENST00000439945.1_Missense_Mutation_p.S78N|BCS1L_ENST00000412366.1_Missense_Mutation_p.S78N|BCS1L_ENST00000359273.3_Missense_Mutation_p.S78N|BCS1L_ENST00000392111.2_Missense_Mutation_p.S78N|BCS1L_ENST00000392109.1_Missense_Mutation_p.S78N			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	78			S -> G (in GRACILE; dbSNP:rs28937590).		mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCACCTCAGTGTCGAGACT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	140	140			NA	NA	2		NA											NA				219525943		2203	4300	6503	SO:0001583	missense			AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582	617	617		ATPases / AAA-type, Mitochondrial respiratory chain complex assembly factors	1020	protein-coding gene	gene with protein product	GRACILE syndrome, Bjornstad syndrome	603647	BCS1 (yeast homolog)-like, BCS1-like (yeast), BCS1-like (S. cerevisiae)		NA	9878253, 17314340	Standard	NM_004328	NM_001079866	NA	Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.233G>A	2.37:g.219525943G>A	ENSP00000413908:p.Ser78Asn	NA	B3KTW9|Q7Z2V7	37	CCDS2419.1	.	.	.	.	.	.	.	.	.	.	G	33	5.195845	0.94960	.	.	ENSG00000074582	ENST00000430322;ENST00000456050;ENST00000359273;ENST00000392109;ENST00000392110;ENST00000423377;ENST00000392111;ENST00000412366;ENST00000439945;ENST00000431802	D;D;D;D;D;D;D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14;-4.14;-4.14;-4.14;-4.14;-4.14;-4.14	5.46	5.46	0.80206	BCS1, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97679	0.9239	M	0.85777	2.775	0.80722	D	1	P	0.50443	0.935	P	0.53760	0.734	D	0.97782	1.0233	10	0.51188	T	0.08	-25.7679	19.3096	0.94182	0.0:0.0:1.0:0.0	.	78	Q9Y276	BCS1_HUMAN	N	78	ENSP00000398957:S78N;ENSP00000395440:S78N;ENSP00000352219:S78N;ENSP00000375957:S78N;ENSP00000375958:S78N;ENSP00000397293:S78N;ENSP00000375959:S78N;ENSP00000406494:S78N;ENSP00000404999:S78N;ENSP00000413908:S78N	ENSP00000352219:S78N	S	+	2	0	BCS1L	219234187	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.845000	0.99498	2.542000	0.85734	0.655000	0.94253	AGT	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336756.1		+	ENST00000431802.1	Missense_Mutation	SNP	2 : 219525943 - 219525943 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1046	62
TRPC5	7224	broad.mit.edu	37	X	111097131	111097131	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:111097131G>T	ENST00000262839.2	-	4	2022	c.1104C>A	c.(1102-1104)atC>atA	p.I368I		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	368					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTGTGTGGCAGATAAACTTGA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	108	113			NA	NA	X		NA											NA				111097131		2203	4300	6503	SO:0001819	synonymous_variant			AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315	7224	7224		Voltage-gated ion channels / Transient receptor potential cation channels	12337	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 159	300334			NA	10493832, 16382100	Standard	NM_012471	NM_012471	NA	Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1104C>A	X.37:g.111097131G>T		NA	B2RP53|O75233|Q5JXY8|Q9Y514	37	CCDS14561.1																																																																																			TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057945.1		-	ENST00000262839.2	Silent	SNP	X : 111097131 - 111097131 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	436	58
TKT	7086	broad.mit.edu	37	3	53265481	53265481	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53265481G>A	ENST00000462138.1	-	7	922	c.834C>T	c.(832-834)atC>atT	p.I278I	TKT_ENST00000296289.6_Silent_p.I231I|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Silent_p.I286I|TKT_ENST00000423525.2_Silent_p.I278I			P29401	TKT_HUMAN	transketolase	278					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	TTTTGCTCTGGATCTGGCTGT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(133;1506 2347 35238 42177)							NA				0													159	130	140			NA	NA	3		NA											NA				53265481		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	7086	7086	2.2.1.1		11834	protein-coding gene	gene with protein product	Wernicke-Korsakoff syndrome	606781			NA	1567394	Standard		NM_001064	NA	Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.834C>T	3.37:g.53265481G>A		NA	A8K089|Q8TBA3|Q96HH3	37	CCDS2871.1																																																																																			TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350356.1		-	ENST00000462138.1	Silent	SNP	3 : 53265481 - 53265481 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	298	58
HEATR4	399671	broad.mit.edu	37	14	73989008	73989008	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73989008C>A	ENST00000553558.1	-	3	1170	c.849G>T	c.(847-849)aaG>aaT	p.K283N	HEATR4_ENST00000334988.2_Missense_Mutation_p.K283N|HEATR4_ENST00000560393.1_Missense_Mutation_p.K236N	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4	NA										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GTTCTGGCTTCTTCTTTTCCT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	118	119			NA	NA	14		NA											NA				73989008		2203	4300	6503	SO:0001583	missense			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105	399671	399671			16761	protein-coding gene	gene with protein product					NA	15489334	Standard	NM_203309	NM_203309	NA	Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.849G>T	14.37:g.73989008C>A	ENSP00000450444:p.Lys283Asn	NA		37	CCDS9815.2	.	.	.	.	.	.	.	.	.	.	C	7.016	0.557739	0.13436	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.44083	0.93	5.69	3.88	0.44766	.	0.173502	0.41097	D	0.000948	T	0.44871	0.1314	L	0.32530	0.975	0.09310	N	1	D	0.59767	0.986	P	0.58660	0.843	T	0.26360	-1.0105	10	0.62326	D	0.03	-6.6596	8.6657	0.34118	0.0:0.8262:0.0:0.1738	.	283	Q86WZ0	HEAT4_HUMAN	N	283;236	ENSP00000450444:K283N	ENSP00000335447:K236N	K	-	3	2	HEATR4	73058761	0.010000	0.17322	0.061000	0.19648	0.160000	0.22226	-0.349000	0.07731	0.777000	0.33496	0.561000	0.74099	AAG	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414422.2		-	ENST00000553558.1	Missense_Mutation	SNP	14 : 73989008 - 73989008 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	831	144
ELMSAN1	91748	broad.mit.edu	37	14	74205659	74205659	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74205659C>A	ENST00000286523.5	-	2	1835	c.1053G>T	c.(1051-1053)aaG>aaT	p.K351N	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.K351N	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1	NA											NA						GGATACCCTCCTTAGAGAGGC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	22	21			NA	NA	14		NA											NA				74205659		2174	4262	6436	SO:0001583	missense			BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030	91748	91748			19853	protein-coding gene	gene with protein product			chromosome 14 open reading frame 117, chromosome 14 open reading frame 43	C14orf117, C14orf43	NA		Standard	NM_194278	NM_194278	NA	Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.1053G>T	14.37:g.74205659C>A	ENSP00000286523:p.Lys351Asn	NA		37	CCDS9819.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.314060	0.60414	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	4.69	3.79	0.43588	.	0.000000	0.64402	D	0.000001	T	0.29028	0.0721	L	0.29908	0.895	0.46609	D	0.999121	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.987	T	0.02424	-1.1161	10	0.56958	D	0.05	-25.9239	7.0046	0.24830	0.0:0.7386:0.0:0.2614	.	351;351	A0PJD3;Q6PJG2	.;CN043_HUMAN	N	351	ENSP00000377634:K351N;ENSP00000286523:K351N;ENSP00000407767:K351N;ENSP00000402380:K351N	ENSP00000286523:K351N	K	-	3	2	C14orf43	73275412	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.793000	0.26944	2.163000	0.67991	0.491000	0.48974	AAG	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317793.1		-	ENST00000286523.5	Missense_Mutation	SNP	14 : 74205659 - 74205659 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	357	81
DOT1L	84444	broad.mit.edu	37	19	2220181	2220181	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2220181C>T	ENST00000398665.3	+	23	2802	c.2766C>T	c.(2764-2766)gcC>gcT	p.A922A		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	922						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGCTAATGCCCACGGTGCTG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	57	54			NA	NA	19		NA											NA				2220181		2042	4181	6223	SO:0001819	synonymous_variant			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	84444	84444	2.1.1.43	Chromatin-modifying enzymes / K-methyltransferases	24948	protein-coding gene	gene with protein product	histone methyltransferase DOT1L	607375	DOT1-like, histone H3 methyltransferase (S. cerevisiae)		NA	11347906, 12123582	Standard	NM_032482	NM_032482	NA	Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.2766C>T	19.37:g.2220181C>T		NA	O60379|Q96JL1	37	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.411334	0.42817	.	.	ENSG00000104885	ENST00000440640	.	.	.	4.62	2.41	0.29592	.	.	.	.	.	T	0.46308	0.1386	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27606	-1.0069	4	.	.	.	-2.577	3.6293	0.08126	0.1783:0.5458:0.0:0.2758	.	.	.	.	L	709	.	.	P	+	2	0	DOT1L	2171181	1.000000	0.71417	0.190000	0.23270	0.917000	0.54804	1.439000	0.35013	0.366000	0.24427	0.462000	0.41574	CCC	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318066.1		+	ENST00000398665.3	Silent	SNP	19 : 2220181 - 2220181 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	12
ANKRD11	29123	broad.mit.edu	37	16	89346643	89346643	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89346643G>T	ENST00000301030.4	-	9	6767	c.6307C>A	c.(6307-6309)Ctg>Atg	p.L2103M	ANKRD11_ENST00000378330.2_Missense_Mutation_p.L2103M	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2103	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTGCCGTCCAGGAAGCTATTT	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													8	11	10			NA	NA	16		NA											NA				89346643		1962	3938	5900	SO:0001583	missense			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522	29123	29123		Ankyrin repeat domain containing	21316	protein-coding gene	gene with protein product		611192			NA	11483580	Standard	NM_013275	NM_001256182	NA	Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.6307C>A	16.37:g.89346643G>T	ENSP00000301030:p.Leu2103Met	NA	Q6NTG1|Q6QMF8	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	g	12.54	1.969239	0.34754	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.39056	1.1;1.1	5.29	3.06	0.35304	.	0.510157	0.17790	N	0.161903	T	0.20373	0.0490	N	0.19112	0.55	0.80722	D	1	B	0.30406	0.278	B	0.21360	0.034	T	0.10989	-1.0606	10	0.33141	T	0.24	.	3.321	0.07050	0.1492:0.0:0.3929:0.4579	.	2103	Q6UB99	ANR11_HUMAN	M	2103	ENSP00000301030:L2103M;ENSP00000367581:L2103M	ENSP00000301030:L2103M	L	-	1	2	ANKRD11	87874144	0.995000	0.38212	1.000000	0.80357	0.343000	0.28985	0.831000	0.27476	2.475000	0.83589	0.450000	0.29827	CTG	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000430462.3		-	ENST00000301030.4	Missense_Mutation	SNP	16 : 89346643 - 89346643 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	225	25
GPR125	166647	broad.mit.edu	37	4	22390718	22390718	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22390718C>T	ENST00000334304.5	-	18	2985	c.2716G>A	c.(2716-2718)Gca>Aca	p.A906T	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	906					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	p.A906T(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CACTAGGGTGCGTTTGGCCGA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											199	211	207			NA	NA	4		NA											NA				22390718		2203	4300	6503	SO:0001583	missense			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990	166647	166647		-, GPCR / Class B : Orphans, Immunoglobulin superfamily / I-set domain containing	13839	protein-coding gene	gene with protein product		612303			NA	12565841	Standard		NM_145290	NA	Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2716G>A	4.37:g.22390718C>T	ENSP00000334952:p.Ala906Thr	NA	Q6UXK9|Q86SQ5|Q8TC55	37	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850785	0.71719	.	.	ENSG00000152990	ENST00000334304	T	0.53857	0.6	5.85	5.85	0.93711	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.48943	0.1528	L	0.39245	1.2	0.80722	D	1	B;D	0.56746	0.213;0.977	B;P	0.46110	0.064;0.504	T	0.36504	-0.9745	10	0.26408	T	0.33	-13.3325	15.7232	0.77732	0.1373:0.8627:0.0:0.0	.	763;906	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	T	906	ENSP00000334952:A906T	ENSP00000334952:A906T	A	-	1	0	GPR125	21999816	0.997000	0.39634	0.889000	0.34880	0.972000	0.66771	3.633000	0.54295	2.755000	0.94549	0.655000	0.94253	GCA	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362960.3		-	ENST00000334304.5	Missense_Mutation	SNP	4 : 22390718 - 22390718 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1411	127
RNF39	80352	broad.mit.edu	37	6	30039014	30039014	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30039014G>A	ENST00000244360.6	-	4	1234	c.1137C>T	c.(1135-1137)taC>taT	p.Y379Y	RNF39_ENST00000376751.3_Intron	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	379	B30.2/SPRY.					cytoplasm	zinc ion binding				NA						AGCGGCCGTCGTAGAAGGCCA	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(8;188 360 1520 20207 31481)							NA				0													14	11	12			NA	NA	6		NA											NA				30039014		1494	2681	4175	SO:0001819	synonymous_variant			AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618	80352	80352		RING-type (C3HC4) zinc fingers	18064	protein-coding gene	gene with protein product		607524			NA	11130983, 11716498	Standard	NM_170769	NM_170769	NA	Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.1137C>T	6.37:g.30039014G>A		NA	A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	37	CCDS4673.1																																																																																			RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076625.3		-	ENST00000244360.6	Silent	SNP	6 : 30039014 - 30039014 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	124	14
ASNS	440	broad.mit.edu	37	7	97498323	97498323	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97498323C>T	ENST00000422745.1	-	2	211	c.83G>A	c.(82-84)cGg>cAg	p.R28Q	ASNS_ENST00000394309.3_Missense_Mutation_p.R49Q|ASNS_ENST00000175506.4_Missense_Mutation_p.R49Q|ASNS_ENST00000437628.1_Intron|ASNS_ENST00000444334.1_Missense_Mutation_p.R28Q|ASNS_ENST00000394308.3_Missense_Mutation_p.R49Q|ASNS_ENST00000455086.1_Intron			P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	49	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TACCGCCAACCGGTGAAATCC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)							NA				0													75	64	67			NA	NA	7		NA											NA				97498323		2203	4300	6503	SO:0001583	missense			M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	440	440	6.3.5.4		753	protein-coding gene	gene with protein product		108370	asparagine synthetase		NA		Standard	NM_001673, NM_183356	NM_001673	NA	Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000422745.1:c.83G>A	7.37:g.97498323C>T	ENSP00000414901:p.Arg28Gln	NA	A4D1I8|D6W5R3|P08184|Q15666|Q549T9|Q96HD0	37	CCDS55132.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145453	0.77888	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000394308;ENST00000422745;ENST00000444334;ENST00000442734;ENST00000437657;ENST00000448127;ENST00000453600	T;T;T;T;T;T	0.69806	-0.2;-0.2;-0.2;-0.43;-0.43;-0.36	3.77	3.77	0.43336	Glutamine amidotransferase, type II (1);	0.000000	0.85682	D	0.000000	D	0.89427	0.6712	H	0.99697	4.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93390	0.6751	10	0.87932	D	0	-13.7033	13.4946	0.61416	0.0:1.0:0.0:0.0	.	49	P08243	ASNS_HUMAN	Q	49;49;49;28;28;49;49;49;28	ENSP00000175506:R49Q;ENSP00000377846:R49Q;ENSP00000377845:R49Q;ENSP00000414901:R28Q;ENSP00000406994:R28Q;ENSP00000400422:R49Q	ENSP00000175506:R49Q	R	-	2	0	ASNS	97336259	1.000000	0.71417	0.984000	0.44739	0.425000	0.31504	7.026000	0.76455	2.120000	0.65058	0.555000	0.69702	CGG	ASNS-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333642.1		-	ENST00000422745.1	Missense_Mutation	SNP	7 : 97498323 - 97498323 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	72
KDM5B	10765	broad.mit.edu	37	1	202705505	202705505	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202705505G>A	ENST00000367265.3	-	21	4264	c.3100C>T	c.(3100-3102)Cca>Tca	p.P1034S	KDM5B_ENST00000367264.2_Missense_Mutation_p.P1070S	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1034					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TCTAACACTGGCACACGTCCT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	79	81			NA	NA	1		NA											NA				202705505		2203	4300	6503	SO:0001583	missense			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139	10765	10765		Chromatin-modifying enzymes / K-demethylases, Zinc fingers, PHD-type	18039	protein-coding gene	gene with protein product	cancer/testis antigen 31, protein phosphatase 1, regulatory subunit 98	605393	Jumonji, AT rich interactive domain 1B (RBP2-like), jumonji, AT rich interactive domain 1B	JARID1B	NA	11483573, 11478881	Standard	NM_006618	NM_006618	NA	Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.3100C>T	1.37:g.202705505G>A	ENSP00000356234:p.Pro1034Ser	NA	O95811|Q15752|Q9Y3Q5	37	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763091	0.89932	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	T;T;T	0.55052	0.54;0.54;0.54	5.66	5.66	0.87406	Lysine-specific demethylase-like domain (1);	0.099013	0.64402	D	0.000001	T	0.75436	0.3849	M	0.81497	2.545	0.58432	D	0.999997	D;D	0.76494	0.999;0.997	D;D	0.70487	0.969;0.964	T	0.77225	-0.2666	10	0.72032	D	0.01	-6.9268	20.1253	0.97977	0.0:0.0:1.0:0.0	.	1070;1034	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	S	1034;876;1070;876	ENSP00000356234:P1034S;ENSP00000356233:P1070S;ENSP00000235790:P876S	ENSP00000235790:P876S	P	-	1	0	KDM5B	200972128	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.640000	0.67875	2.832000	0.97577	0.655000	0.94253	CCA	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000099184.2		-	ENST00000367265.3	Missense_Mutation	SNP	1 : 202705505 - 202705505 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	364	23
JMJD1C	221037	broad.mit.edu	37	10	64968369	64968369	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64968369C>A	ENST00000399262.2	-	10	3278	c.3060G>T	c.(3058-3060)gaG>gaT	p.E1020D	JMJD1C_ENST00000542921.1_Missense_Mutation_p.E838D|JMJD1C_ENST00000399251.1_Missense_Mutation_p.E801D|JMJD1C_ENST00000402544.1_Missense_Mutation_p.E801D	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1020					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GACGGTGTTCCTCTTTGTATT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													213	198	203			NA	NA	10		NA											NA				64968369		1893	4115	6008	SO:0001583	missense			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988	221037	221037			12313	protein-coding gene	gene with protein product		604503	thyroid hormone receptor interactor 8	TRIP8	NA	7776974	Standard	NM_004241	XM_005269624	NA	Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.3060G>T	10.37:g.64968369C>A	ENSP00000382204:p.Glu1020Asp	NA	Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	37	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000484	0.54147	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.69435	-0.06;-0.4;1.38;-0.05	5.9	2.62	0.31277	.	0.000000	0.85682	D	0.000000	T	0.76069	0.3936	M	0.64997	1.995	0.47778	D	0.999517	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.994;0.994	T	0.73353	-0.4009	10	0.52906	T	0.07	-15.4301	9.7959	0.40735	0.0:0.6749:0.0:0.3251	.	561;1020;838	A6PW35;Q15652;A0T124	.;JHD2C_HUMAN;.	D	1020;801;801;838	ENSP00000382204:E1020D;ENSP00000384990:E801D;ENSP00000382195:E801D;ENSP00000444682:E838D	ENSP00000382195:E801D	E	-	3	2	JMJD1C	64638375	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.424000	0.34848	0.228000	0.21019	0.563000	0.77884	GAG	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048249.2		-	ENST00000399262.2	Missense_Mutation	SNP	10 : 64968369 - 64968369 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	742	159
MKX	283078	broad.mit.edu	37	10	27964176	27964176	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27964176C>T	ENST00000375790.5	-	7	1473	c.1041G>A	c.(1039-1041)ccG>ccA	p.P347P	MKX_ENST00000419761.1_Silent_p.P347P			Q8IYA7	MKX_HUMAN	mohawk homeobox	347					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						GCTGCACCAGCGGCACTTTGA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	3,4403	6.2+/-15.9	0,3,2200	172	151	158		1041,1041	-11.2	0	10		158	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MKX	NM_001242702.1,NM_173576.2	,	0,3,6500	TT,TC,CC	NA	0.0,0.0681,0.0231	,	347/353,347/353	27964176	3,13003	2203	4300	6503	SO:0001819	synonymous_variant			BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051	283078	283078		Homeoboxes / TALE class	23729	protein-coding gene	gene with protein product		601332	chromosome 10 open reading frame 48, iroquois homeobox protein-like 1	C10orf48, IRXL1	NA	16408284	Standard	NM_173576	NM_173576	NA	Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.1041G>A	10.37:g.27964176C>T		NA	B3KWM5	37	CCDS7156.1																																																																																			MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047332.3		-	ENST00000375790.5	Silent	SNP	10 : 27964176 - 27964176 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	616	99
MYO16	23026	broad.mit.edu	37	13	109644787	109644787	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:109644787A>C	ENST00000357550.2	+	20	2408	c.2367A>C	c.(2365-2367)gaA>gaC	p.E789D	MYO16_ENST00000251041.5_Missense_Mutation_p.E789D|MYO16_ENST00000356711.2_Missense_Mutation_p.E789D|MYO16_ENST00000457511.2_Missense_Mutation_p.E301D	NM_001198950.1	NP_001185879.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	789	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AAAAGAATGAATTTGAACAAG	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	121	123			NA	NA	13		NA											NA				109644787		2201	4298	6499	SO:0001583	missense				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515	23026	23026		Myosins / Myosin superfamily : Class XVI, Ankyrin repeat domain containing	29822	protein-coding gene	gene with protein product	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3, protein phosphatase 1, regulatory subunit 107	615479			NA	11588169, 17029291, 21946561	Standard	NM_015011	NM_001198950	NA	Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.2367A>C	13.37:g.109644787A>C	ENSP00000350160:p.Glu789Asp	NA	A6H8Y0|A8MTX3|Q5VYX4|Q5VYX5|Q5VYX6|Q6ZS13|Q8N3C2|Q8N948	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.877850	0.51801	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857;ENST00000457511	D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22	5.12	-0.171	0.13331	Myosin head, motor domain (3);	0.438833	0.16942	U	0.193259	T	0.74749	0.3757	N	0.24115	0.695	0.27897	N	0.939132	P;P;P	0.39424	0.622;0.622;0.673	B;B;B	0.42738	0.275;0.217;0.396	T	0.65249	-0.6214	9	.	.	.	.	0.9351	0.01343	0.4462:0.1429:0.2545:0.1564	.	301;789;789	F8W883;Q9Y6X6-2;Q9Y6X6	.;.;MYO16_HUMAN	D	789;789;789;789;577;301	ENSP00000349145:E789D;ENSP00000350160:E789D;ENSP00000251041:E789D;ENSP00000401633:E301D	.	E	+	3	2	MYO16	108442788	0.970000	0.33590	0.996000	0.52242	0.995000	0.86356	-0.061000	0.11693	-0.246000	0.09611	0.460000	0.39030	GAA	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045746.1		+	ENST00000357550.2	Missense_Mutation	SNP	13 : 109644787 - 109644787 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	196	40
DGCR8	54487	broad.mit.edu	37	22	20094192	20094192	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20094192C>T	ENST00000351989.3	+	11	2396	c.1967C>T	c.(1966-1968)gCg>gTg	p.A656V	DGCR8_ENST00000407755.1_Missense_Mutation_p.A623V|DGCR8_ENST00000383024.2_Missense_Mutation_p.A623V	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	656	DRBM 2.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TACGTCATGGCGTGTGGCAAG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	120	123			NA	NA	22		NA											NA				20094192		2203	4300	6503	SO:0001583	missense			AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191	54487	54487			2847	protein-coding gene	gene with protein product		609030	chromosome 22 open reading frame 12, DiGeorge syndrome critical region gene 8	C22orf12	NA	21454614	Standard		NM_001190326	NA	Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1967C>T	22.37:g.20094192C>T	ENSP00000263209:p.Ala656Val	NA	B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	37	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.695684	0.88830	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.75821	-0.97;-0.97;-0.97	5.55	5.55	0.83447	Double-stranded RNA-binding (2);	0.048412	0.85682	D	0.000000	T	0.56366	0.1980	N	0.08118	0	0.52501	D	0.999953	B;P	0.37663	0.44;0.604	B;B	0.31101	0.124;0.052	T	0.65105	-0.6249	10	0.66056	D	0.02	-14.3867	18.2506	0.90002	0.0:1.0:0.0:0.0	.	623;656	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	V	656;623;623	ENSP00000263209:A656V;ENSP00000372488:A623V;ENSP00000384726:A623V	ENSP00000263209:A656V	A	+	2	0	DGCR8	18474192	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.208000	0.77907	2.592000	0.87571	0.591000	0.81541	GCG	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318654.1		+	ENST00000351989.3	Missense_Mutation	SNP	22 : 20094192 - 20094192 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	50
CASP2	835	broad.mit.edu	37	7	142991359	142991359	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142991359C>A	ENST00000310447.5	+	5	753	c.512C>A	c.(511-513)cCt>cAt	p.P171H	CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	171					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					AAAGATGGTCCTGTCTGCCTT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	163	163			NA	NA	7		NA											NA				142991359		2203	4300	6503	SO:0001583	missense			AK096245, BC002427, BM998653, BX537669, CB988674, U13021	CCDS5879.1, CCDS47733.1	7q34-q35	2014-01-20	2008-08-01		ENSG00000106144	ENSG00000106144	835	835		Caspases, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	1503	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 57	600639	neural precursor cell expressed, developmentally down-regulated 2	NEDD2	NA	7789948, 8780721	Standard	NM_032982	NM_032982	NA	Approved	ICH1, PPP1R57, MGC2181	uc003wco.3	P42575	OTTHUMG00000023641	ENST00000310447.5:c.512C>A	7.37:g.142991359C>A	ENSP00000312664:p.Pro171His	NA	A8K5F9|D3DXD6|P42576|Q59F21|Q7KZL6|Q86UJ3|Q9BUP7|Q9BZK9	37	CCDS5879.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.583897	0.86748	.	.	ENSG00000106144	ENST00000310447;ENST00000392923	T	0.02103	4.45	5.78	5.78	0.91487	.	0.250574	0.43747	D	0.000528	T	0.09247	0.0228	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	P	0.55965	0.788	T	0.01090	-1.1455	10	0.48119	T	0.1	.	18.246	0.89986	0.0:1.0:0.0:0.0	.	171	P42575	CASP2_HUMAN	H	171;140	ENSP00000312664:P171H	ENSP00000312664:P171H	P	+	2	0	CASP2	142701481	0.999000	0.42202	0.993000	0.49108	0.923000	0.55619	6.030000	0.70903	2.752000	0.94435	0.555000	0.69702	CCT	CASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059962.3		+	ENST00000310447.5	Missense_Mutation	SNP	7 : 142991359 - 142991359 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	633	106
SOX2	6657	broad.mit.edu	37	3	181430930	181430930	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:181430930C>T	ENST00000325404.1	+	1	1209	c.782C>T	c.(781-783)tCc>tTc	p.S261F	SOX2_ENST00000431565.2_Missense_Mutation_p.S261F	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	261					cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			TCCTCCCACTCCAGGGCGCCC	0.682		NA	A		NSCLC, oesophageal squamous carcinoma		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME							NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		3	3q26.3-q27	6657	SRY (sex determining region Y)-box 2	yes	E	0													45	40	42			NA	NA	3		NA											NA				181430930		2199	4292	6491	SO:0001583	missense			BC013923	CCDS3239.1	3q26.3-q27	2014-09-17					6657	6657		SRY (sex determining region Y)-boxes	11195	protein-coding gene	gene with protein product		184429			NA	7849401	Standard	NM_003106	NM_003106	NA	Approved		uc003fkx.3	P48431		ENST00000325404.1:c.782C>T	3.37:g.181430930C>T	ENSP00000323588:p.Ser261Phe	NA	Q14537	37	CCDS3239.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738824	0.49045	.	.	ENSG00000181449	ENST00000431565;ENST00000325404	D;D	0.85339	-1.97;-1.97	5.5	5.5	0.81552	.	0.185050	0.48767	D	0.000174	D	0.83797	0.5332	L	0.49126	1.545	0.58432	D	0.999999	P	0.41159	0.74	B	0.39738	0.308	D	0.85853	0.1405	10	0.87932	D	0	.	18.7542	0.91826	0.0:1.0:0.0:0.0	.	261	P48431	SOX2_HUMAN	F	261	ENSP00000439111:S261F;ENSP00000323588:S261F	ENSP00000323588:S261F	S	+	2	0	SOX2	182913624	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.457000	0.60088	2.735000	0.93741	0.655000	0.94253	TCC	SOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350419.1		+	ENST00000325404.1	Missense_Mutation	SNP	3 : 181430930 - 181430930 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	526	89
THEMIS	387357	broad.mit.edu	37	6	128134272	128134272	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:128134272G>A	ENST00000368250.1	-	5	1775	c.1277C>T	c.(1276-1278)cCt>cTt	p.P426L	THEMIS_ENST00000537166.1_Missense_Mutation_p.P470L|THEMIS_ENST00000368248.2_Missense_Mutation_p.P505L|THEMIS_ENST00000543064.1_Missense_Mutation_p.P505L			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	505	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GCGGCCCACAGGAATTTCCCA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	70	70			NA	NA	6		NA											NA				128134272		2203	4300	6503	SO:0001583	missense			AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673	387357	387357			21569	protein-coding gene	gene with protein product	thymocyte expressed molecule involved in selection	613607	chromosome 6 open reading frame 207, chromosome 6 open reading frame 190, thymocyte selection pathway associated	C6orf207, C6orf190, TSEPA	NA	19597499, 19597498, 19597497	Standard	NM_001010923	NM_001010923	NA	Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368250.1:c.1277C>T	6.37:g.128134272G>A	ENSP00000357233:p.Pro426Leu	NA	A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|Q5T3C4|Q5T3C5|Q6MZT7	37		.	.	.	.	.	.	.	.	.	.	G	17.42	3.384593	0.61845	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.9	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.52125	0.1715	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.63427	-0.6640	10	0.87932	D	0	-14.1489	16.9552	0.86257	0.0:0.1277:0.8723:0.0	.	505;505	F5H1J9;Q8N1K5	.;THMS1_HUMAN	L	426;505;505;470	ENSP00000357233:P426L;ENSP00000439594:P505L;ENSP00000357231:P505L;ENSP00000439863:P470L	ENSP00000357231:P505L	P	-	2	0	THEMIS	128175965	1.000000	0.71417	0.900000	0.35374	0.978000	0.69477	7.842000	0.86851	1.459000	0.47892	0.563000	0.77884	CCT	THEMIS-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000042156.1		-	ENST00000368250.1	Missense_Mutation	SNP	6 : 128134272 - 128134272 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	408	64
IPP	3652	broad.mit.edu	37	1	46206618	46206618	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46206618G>A	ENST00000396478.3	-	3	781	c.679C>T	c.(679-681)Cga>Tga	p.R227*		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	227						actin cytoskeleton|cytoplasm	actin binding	p.R227*(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					AAAGGGAATCGAATTGGGTCT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Nonsense(1)	large_intestine(1)											170	168	168			NA	NA	1		NA											NA				46206618		2203	4300	6503	SO:0001587	stop_gained			BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429	3652	3652		Kelch-like, BTB/POZ domain containing	6108	protein-coding gene	gene with protein product	kelch-like family member 27	147485			NA	1905535, 8432546	Standard	NM_005897	NM_005897	NA	Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.679C>T	1.37:g.46206618G>A	ENSP00000379739:p.Arg227*	NA	A2A6V4|D3DQ11|Q8N5C3	37	CCDS30702.1	.	.	.	.	.	.	.	.	.	.	G	35	5.597542	0.96602	.	.	ENSG00000197429	ENST00000359942;ENST00000396478	.	.	.	5.17	4.2	0.49525	.	0.249248	0.41194	D	0.000931	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3396	0.66617	0.0:0.0:0.7561:0.2439	.	.	.	.	X	227	.	ENSP00000353024:R227X	R	-	1	2	IPP	45979205	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.208000	0.65203	2.577000	0.86979	0.643000	0.83706	CGA	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021974.3		-	ENST00000396478.3	Nonsense_Mutation	SNP	1 : 46206618 - 46206618 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	424	74
CHMP7	91782	broad.mit.edu	37	8	23106877	23106877	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23106877G>A	ENST00000397677.1	+	3	1102	c.454G>A	c.(454-456)Gct>Act	p.A152T	CHMP7_ENST00000313219.7_Missense_Mutation_p.A152T	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	152					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GGTCCTTGTCGCTGTGGAGCT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	52	55			NA	NA	8		NA											NA				23106877		2203	4300	6503	SO:0001583	missense			BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457	91782	91782		Charged multivesicular body proteins	28439	protein-coding gene	gene with protein product		611130	CHMP family, member 7		NA	16856878	Standard	NM_152272	NM_152272	NA	Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.454G>A	8.37:g.23106877G>A	ENSP00000380794:p.Ala152Thr	NA	B2RDT3|D3DSS1|Q8NDM1|Q9BT50	37	CCDS6040.1	.	.	.	.	.	.	.	.	.	.	G	9.578	1.122858	0.20959	.	.	ENSG00000147457	ENST00000397677;ENST00000313219	T;T	0.57907	0.37;0.37	5.54	3.76	0.43208	.	0.246954	0.41500	D	0.000870	T	0.21145	0.0509	N	0.08118	0	0.09310	N	1	P	0.42973	0.796	B	0.27076	0.076	T	0.10382	-1.0632	10	0.36615	T	0.2	-7.9022	4.5343	0.12020	0.2407:0.0:0.6043:0.1551	.	152	Q8WUX9	CHMP7_HUMAN	T	152	ENSP00000380794:A152T;ENSP00000324491:A152T	ENSP00000324491:A152T	A	+	1	0	CHMP7	23162822	1.000000	0.71417	0.167000	0.22817	0.905000	0.53344	4.750000	0.62162	0.718000	0.32166	-0.218000	0.12543	GCT	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254717.1		+	ENST00000397677.1	Missense_Mutation	SNP	8 : 23106877 - 23106877 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	197	31
IL33	90865	broad.mit.edu	37	9	6241745	6241745	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6241745G>A	ENST00000381434.3	+	1	64	c.51G>A	c.(49-51)tgG>tgA	p.W17*	IL33_ENST00000456383.2_Nonsense_Mutation_p.W17*|IL33_ENST00000417746.2_Nonsense_Mutation_p.W17*|IL33_ENST00000463336.1_3'UTR	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	17					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		CAGCAAAGTGGAAGAACACAG	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	88	88			NA	NA	9		NA											NA				6241745		2203	4300	6503	SO:0001587	stop_gained			AB024518	CCDS6468.1, CCDS56563.1, CCDS56564.1	9p24.1	2014-01-28	2006-11-20	2006-11-20	ENSG00000137033	ENSG00000137033	90865	90865		Interleukins and interleukin receptors	16028	protein-coding gene	gene with protein product	DVS27-related protein, nuclear factor for high endothelial venules, interleukin-1 family, member 11	608678	chromosome 9 open reading frame 26 (NF-HEV)	C9orf26	NA	10566975, 12819012	Standard	NM_033439	NM_033439	NA	Approved	DVS27, DKFZp586H0523, NF-HEV, IL1F11	uc003zjt.3	O95760	OTTHUMG00000019516	ENST00000381434.3:c.51G>A	9.37:g.6241745G>A	ENSP00000370842:p.Trp17*	NA	D3DRI5|Q2YEJ5	37	CCDS6468.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678039	0.47886	.	.	ENSG00000137033	ENST00000417746;ENST00000456383;ENST00000381434	.	.	.	4.26	1.3	0.21679	.	2.375840	0.01455	N	0.015626	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	0.6912	4.6084	0.12389	0.2064:0.1902:0.6034:0.0	.	.	.	.	X	17	.	ENSP00000370842:W17X	W	+	3	0	IL33	6231745	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.121000	0.10643	0.299000	0.22661	0.485000	0.47835	TGG	IL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051655.1		+	ENST00000381434.3	Nonsense_Mutation	SNP	9 : 6241745 - 6241745 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	180	30
MAGOHB	55110	broad.mit.edu	37	12	10762505	10762505	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10762505C>A	ENST00000320756.2	-	3	279	c.189G>T	c.(187-189)aaG>aaT	p.K63N	MAGOHB_ENST00000539554.1_Missense_Mutation_p.K17N|MAGOHB_ENST00000381881.2_Intron	NM_018048.3	NP_060518.1	Q96A72	MGN2_HUMAN	mago-nashi homolog B (Drosophila)	63					mRNA processing|mRNA transport|RNA splicing	nucleus	RNA binding			breast(2)|large_intestine(2)	4						CAATAATTCTCTTCAGTTCTT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	117	117			NA	NA	12		NA											NA				10762505		2203	4300	6503	SO:0001583	missense				CCDS8628.1	12p13.2	2014-02-12	2008-01-24		ENSG00000111196	ENSG00000111196	55110	55110			25504	protein-coding gene	gene with protein product					NA		Standard	NM_018048	NM_018048	NA	Approved	FLJ10292, MGN2	uc001qyq.2	Q96A72	OTTHUMG00000168407	ENST00000320756.2:c.189G>T	12.37:g.10762505C>A	ENSP00000319240:p.Lys63Asn	NA		37	CCDS8628.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713933	0.68730	.	.	ENSG00000111196	ENST00000539554;ENST00000320756	.	.	.	4.61	2.8	0.32819	.	0.000000	0.85682	U	0.000000	T	0.71151	0.3306	M	0.93678	3.445	0.80722	D	1	P	0.40180	0.705	B	0.44108	0.441	T	0.73490	-0.3966	9	0.87932	D	0	.	6.4197	0.21736	0.0:0.7092:0.0:0.2908	.	63	Q96A72	MGN2_HUMAN	N	17;63	.	ENSP00000319240:K63N	K	-	3	2	MAGOHB	10653772	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.781000	0.26774	0.879000	0.35944	0.591000	0.81541	AAG	MAGOHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399616.1		-	ENST00000320756.2	Missense_Mutation	SNP	12 : 10762505 - 10762505 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	186	26
CAB39	51719	broad.mit.edu	37	2	231657983	231657983	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231657983C>T	ENST00000258418.5	+	4	764	c.335C>T	c.(334-336)aCg>aTg	p.T112M	CAB39_ENST00000410084.3_Missense_Mutation_p.T112M|CAB39_ENST00000409788.3_Missense_Mutation_p.T112M	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN	calcium binding protein 39	112					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	kinase binding			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		CAAATTGGTACGAGAACTCCT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	122	122			NA	NA	2		NA											NA				231657983		2203	4300	6503	SO:0001583	missense			AF113536	CCDS2478.1	2q37.1	2008-02-05			ENSG00000135932	ENSG00000135932	51719	51719			20292	protein-coding gene	gene with protein product		612174			NA		Standard	NM_016289	NM_016289	NA	Approved	CGI-66, MO25	uc002vqx.3	Q9Y376	OTTHUMG00000133220	ENST00000258418.5:c.335C>T	2.37:g.231657983C>T	ENSP00000258418:p.Thr112Met	NA		37	CCDS2478.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.895363	0.91962	.	.	ENSG00000135932	ENST00000258418;ENST00000409788;ENST00000410084	T;T;T	0.30714	1.52;1.52;1.52	6.04	6.04	0.98038	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56426	0.1984	M	0.88105	2.93	0.80722	D	1	D	0.63880	0.993	P	0.53450	0.726	T	0.63866	-0.6540	10	0.72032	D	0.01	.	18.0887	0.89466	0.0:1.0:0.0:0.0	.	112	Q9Y376	CAB39_HUMAN	M	112	ENSP00000258418:T112M;ENSP00000386238:T112M;ENSP00000386642:T112M	ENSP00000258418:T112M	T	+	2	0	CAB39	231366227	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.794000	0.85869	2.873000	0.98535	0.563000	0.77884	ACG	CAB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256955.2		+	ENST00000258418.5	Missense_Mutation	SNP	2 : 231657983 - 231657983 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	398	29
ZNF569	148266	broad.mit.edu	37	19	37916864	37916864	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37916864G>T	ENST00000316950.6	-	5	701	c.144C>A	c.(142-144)ggC>ggA	p.G48G	ZNF569_ENST00000392150.2_Intron|ZNF569_ENST00000392149.2_Splice_Site_p.G48G|ZNF569_ENST00000589833.1_Splice_Site_p.G72G|ZNF569_ENST00000592490.1_Intron	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	48	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAACGGATAGCCTGTCAAAG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													258	250	253			NA	NA	19		NA											NA				37916864		2203	4300	6503	SO:0001630	splice_region_variant			AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437	148266	148266		Zinc fingers, C2H2-type, -	24737	protein-coding gene	gene with protein product		613904			NA	12477932	Standard	NM_152484	NM_152484	NA	Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.143-1C>A	19.37:g.37916864G>T		NA	A8K1S2|Q15925|Q96MQ2	37	CCDS12503.1																																																																																			ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109594.2	Silent	-	ENST00000316950.6	Splice_Site	SNP	19 : 37916864 - 37916864 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1443	298
AKAP11	11215	broad.mit.edu	37	13	42876137	42876137	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:42876137G>A	ENST00000025301.2	+	8	3430	c.3255G>A	c.(3253-3255)gtG>gtA	p.V1085V		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1085					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GTTTGCATGTGGAAGATAAAC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	129	131			NA	NA	13		NA											NA				42876137		2203	4300	6503	SO:0001819	synonymous_variant			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516	11215	11215		A-kinase anchor proteins, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	369	protein-coding gene	gene with protein product	AKAP 220, A-kinase anchoring protein, 220kDa, protein kinase A anchoring protein 11, protein phosphatase 1, regulatory subunit 44	604696			NA	9734811, 8621616	Standard	NM_016248	NM_016248	NA	Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.3255G>A	13.37:g.42876137G>A		NA	O75124|Q9NUK7	37	CCDS9383.1																																																																																			AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044700.2		+	ENST00000025301.2	Silent	SNP	13 : 42876137 - 42876137 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	90
AKR7A3	22977	broad.mit.edu	37	1	19609268	19609268	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19609268G>A	ENST00000361640.4	-	7	1493	c.953C>T	c.(952-954)gCc>gTc	p.A318V		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	318					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAAATGCCAGGCTTGATTAAA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	48	47			NA	NA	1		NA											NA				19609268		2199	4300	6499	SO:0001583	missense			AF040639	CCDS193.1	1p36.13	2008-05-14			ENSG00000162482	ENSG00000162482	22977	22977		Aldo-keto reductases	390	protein-coding gene	gene with protein product		608477			NA	10383892	Standard	NM_012067	NM_012067	NA	Approved		uc001bbv.1	O95154	OTTHUMG00000002523	ENST00000361640.4:c.953C>T	1.37:g.19609268G>A	ENSP00000355377:p.Ala318Val	NA	Q86SR4|Q8IVN6|Q8N5V6|Q8TAX1|Q9NUC3	37	CCDS193.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.307444	0.40795	.	.	ENSG00000162482	ENST00000361640	T	0.23552	1.9	3.59	1.52	0.23074	NADP-dependent oxidoreductase domain (3);	0.108969	0.64402	D	0.000006	T	0.39436	0.1078	L	0.59967	1.855	0.49299	D	0.999775	D	0.69078	0.997	D	0.63113	0.911	T	0.04360	-1.0957	10	0.40728	T	0.16	.	10.741	0.46154	0.0:0.3737:0.6263:0.0	.	318	O95154	ARK73_HUMAN	V	318	ENSP00000355377:A318V	ENSP00000355377:A318V	A	-	2	0	AKR7A3	19481855	1.000000	0.71417	0.496000	0.27539	0.014000	0.08584	4.990000	0.63876	0.007000	0.14760	0.205000	0.17691	GCC	AKR7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007166.1		-	ENST00000361640.4	Missense_Mutation	SNP	1 : 19609268 - 19609268 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	273	13
FCGBP	8857	broad.mit.edu	37	19	40424170	40424170	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40424170G>A	ENST00000221347.6	-	4	2040	c.2033C>T	c.(2032-2034)aCc>aTc	p.T678I		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	678	VWFD 1.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ATCGAGCTTGGTCAGCATGCC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													198	186	190			NA	NA	19		NA											NA				40424170		2203	4300	6503	SO:0001583	missense			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395	8857	8857			13572	protein-coding gene	gene with protein product	IgG Fc binding protein, Human Fc gamma BP				NA	9182547	Standard	NM_003890	NM_003890	NA	Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.2033C>T	19.37:g.40424170G>A	ENSP00000221347:p.Thr678Ile	NA	O95784	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987085	0.35036	.	.	ENSG00000090920	ENST00000221347	T	0.76709	-1.04	5.34	4.22	0.49857	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	0.350163	0.20395	N	0.093180	T	0.77532	0.4144	L	0.57130	1.785	0.27972	N	0.936382	P	0.37370	0.592	B	0.41174	0.349	T	0.74426	-0.3669	10	0.51188	T	0.08	.	15.8228	0.78673	0.0:0.187:0.813:0.0	.	678	Q9Y6R7	FCGBP_HUMAN	I	678	ENSP00000221347:T678I	ENSP00000221347:T678I	T	-	2	0	FCGBP	45116010	0.003000	0.15002	0.951000	0.38953	0.604000	0.37047	0.458000	0.21892	2.506000	0.84524	0.650000	0.86243	ACC	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462507.1		-	ENST00000221347.6	Missense_Mutation	SNP	19 : 40424170 - 40424170 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1570	290
UBQLNL	143630	broad.mit.edu	37	11	5537124	5537124	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5537124C>T	ENST00000380184.1	-	1	811	c.548G>A	c.(547-549)cGg>cAg	p.R183Q	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	183										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GGACAGAAGCCGCTGGATGCT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	114	114			NA	NA	11		NA											NA				5537124		2201	4297	6498	SO:0001583	missense			AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518	143630	143630		Ubiquilin family	28294	protein-coding gene	gene with protein product					NA		Standard	NM_145053	NM_145053	NA	Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.548G>A	11.37:g.5537124C>T	ENSP00000369531:p.Arg183Gln	NA	Q6ZRU1|Q96EK3|Q96MB0	37	CCDS31385.1	.	.	.	.	.	.	.	.	.	.	C	8.789	0.930198	0.18131	.	.	ENSG00000175518	ENST00000380184	T	0.43688	0.94	4.86	0.362	0.16113	.	0.520058	0.16070	N	0.231065	T	0.17023	0.0409	N	0.04636	-0.2	0.21020	N	0.9998	B	0.13594	0.008	B	0.06405	0.002	T	0.22452	-1.0216	10	0.21014	T	0.42	.	7.0333	0.24979	0.0:0.536:0.0:0.464	.	183	Q8IYU4	UBQLN_HUMAN	Q	183	ENSP00000369531:R183Q	ENSP00000369531:R183Q	R	-	2	0	UBQLNL	5493700	0.068000	0.21057	0.042000	0.18584	0.801000	0.45260	-0.297000	0.08276	-0.072000	0.12864	0.650000	0.86243	CGG	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000143386.1		-	ENST00000380184.1	Missense_Mutation	SNP	11 : 5537124 - 5537124 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	595	24
ANKRD17	26057	broad.mit.edu	37	4	73957906	73957906	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73957906T>G	ENST00000358602.4	-	29	5555	c.5439A>C	c.(5437-5439)tcA>tcC	p.S1813S	ANKRD17_ENST00000509867.2_Silent_p.S1700S|ANKRD17_ENST00000330838.6_Silent_p.S1562S	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1813					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGGAATTTGCTGAGGAGCTTT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	150	150			NA	NA	4		NA											NA				73957906		2203	4300	6503	SO:0001819	synonymous_variant			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466	26057	26057		Ankyrin repeat domain containing	23575	protein-coding gene	gene with protein product		615929			NA	11165478	Standard	NM_032217	NM_032217	NA	Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.5439A>C	4.37:g.73957906T>G		NA	Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	37	CCDS34004.1																																																																																			ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362475.1		-	ENST00000358602.4	Silent	SNP	4 : 73957906 - 73957906 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	931	174
LRRC4B	94030	broad.mit.edu	37	19	51021414	51021414	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51021414T>C	ENST00000599957.1	-	3	1753	c.1556A>G	c.(1555-1557)gAc>gGc	p.D519G	LRRC4B_ENST00000389201.3_Missense_Mutation_p.D519G			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	519	Gly-rich.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CCAGACACCGTCTGTCGTGGG	0.741		NA											T	6	0.0027	0.0041	0.01	2184	NA	0.9964	,	,	NA	9e-04	0.0026	NA	NA	0.0037	0.5852	EXOME	NA	NA	0.0033	SNP								NA				0													8	10	9			NA	NA	19		NA											NA				51021414		1781	3942	5723	SO:0001583	missense			BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409	94030	94030		Immunoglobulin superfamily / I-set domain containing, Endogenous ligands	25042	protein-coding gene	gene with protein product	netrin-G3 ligand		leucine-rich repeats and immunoglobulin-like domains 4	LRIG4	NA	11441184	Standard	NM_001080457	NM_001080457	NA	Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1556A>G	19.37:g.51021414T>C	ENSP00000471502:p.Asp519Gly	NA	Q3ZCQ4|Q58F20	37	CCDS42595.1	6	0.0027472527472527475	2	0.0040650406504065045	2	0.0055248618784530384	0	0.0	2	0.002638522427440633	T	3.906	-0.020995	0.07634	.	.	ENSG00000131409	ENST00000389201	T	0.59083	0.29	3.05	3.05	0.35203	.	0.535452	0.15013	N	0.285479	T	0.25827	0.0629	N	0.08118	0	0.23496	N	0.997551	B	0.06786	0.001	B	0.04013	0.001	T	0.11275	-1.0594	10	0.22706	T	0.39	.	9.4792	0.38891	0.0:0.0:0.0:1.0	.	519	Q9NT99	LRC4B_HUMAN	G	519	ENSP00000373853:D519G	ENSP00000373853:D519G	D	-	2	0	LRRC4B	55713226	0.001000	0.12720	0.892000	0.35008	0.313000	0.28021	0.541000	0.23207	1.393000	0.46605	0.379000	0.24179	GAC	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464907.1		-	ENST00000599957.1	Missense_Mutation	SNP	19 : 51021414 - 51021414 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	141	28
SLC16A13	201232	broad.mit.edu	37	17	6941591	6941591	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6941591T>G	ENST00000308027.6	+	3	772	c.464T>G	c.(463-465)tTt>tGt	p.F155C		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	155						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						TCCTTCACATTTGCCCCCTTT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	70	69			NA	NA	17		NA											NA				6941591		2203	4300	6503	SO:0001583	missense			BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327	201232	201232		Solute carriers	31037	protein-coding gene	gene with protein product	monocarboxylic acid transporter 13		solute carrier family 16 (monocarboxylic acid transporters), member 13		NA		Standard		NM_201566	NA	Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.464T>G	17.37:g.6941591T>G	ENSP00000309751:p.Phe155Cys	NA	A3KMG3|A5PKU5|Q2VP92	37	CCDS11085.1	.	.	.	.	.	.	.	.	.	.	T	19.70	3.876462	0.72180	.	.	ENSG00000174327	ENST00000308027	T	0.57595	0.39	5.54	4.46	0.54185	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.105795	0.64402	D	0.000003	T	0.73353	0.3576	M	0.87180	2.865	0.44807	D	0.997815	D	0.89917	1.0	D	0.85130	0.997	T	0.75889	-0.3158	10	0.87932	D	0	.	9.6037	0.39622	0.0:0.0831:0.0:0.9169	.	155	Q7RTY0	MOT13_HUMAN	C	155	ENSP00000309751:F155C	ENSP00000309751:F155C	F	+	2	0	SLC16A13	6882315	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.627000	0.83176	0.935000	0.37341	0.460000	0.39030	TTT	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219923.2		+	ENST00000308027.6	Missense_Mutation	SNP	17 : 6941591 - 6941591 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	80
PRPF38B	55119	broad.mit.edu	37	1	109241961	109241961	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109241961T>C	ENST00000370021.1	+	7	1264	c.627T>C	c.(625-627)agT>agC	p.S209S	PRPF38B_ENST00000370025.4_Silent_p.S320S			Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	320					mRNA processing|RNA splicing	spliceosomal complex				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GATCCCGAAGTATTGACCGGG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	88	88			NA	NA	1		NA											NA				109241961		2203	4300	6503	SO:0001819	synonymous_variant			AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186	55119	55119			25512	protein-coding gene	gene with protein product			PRP38 pre-mRNA processing factor 38 (yeast) domain containing B		NA		Standard	NM_018061	NM_018061	NA	Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370021.1:c.627T>C	1.37:g.109241961T>C		NA	Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	37																																																																																				PRPF38B-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000030232.2		+	ENST00000370021.1	Silent	SNP	1 : 109241961 - 109241961 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	435	60
SLC22A6	9356	broad.mit.edu	37	11	62751503	62751503	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62751503G>A	ENST00000377871.3	-	2	652	c.386C>T	c.(385-387)tCt>tTt	p.S129F	SLC22A6_ENST00000360421.4_Missense_Mutation_p.S129F|SLC22A6_ENST00000458333.2_Missense_Mutation_p.S129F|SLC22A6_ENST00000421062.2_Missense_Mutation_p.S129F	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	129					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GGCCCTGTGAGAGCACACAAG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	41	42			NA	NA	11		NA											NA				62751503		2201	4298	6499	SO:0001583	missense			AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901	9356	9356		Solute carriers	10970	protein-coding gene	gene with protein product		607582			NA	9762842, 9950961	Standard	NM_004790	NM_004790	NA	Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.386C>T	11.37:g.62751503G>A	ENSP00000367102:p.Ser129Phe	NA	A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	37	CCDS31591.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.476899	0.63849	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871;ENST00000458333;ENST00000421062	T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3	5.52	2.18	0.27775	Major facilitator superfamily domain (1);	0.328214	0.31531	N	0.007482	D	0.85965	0.5820	M	0.79805	2.47	0.24323	N	0.995039	D;D;D;D	0.57571	0.96;0.98;0.967;0.98	P;P;P;P	0.62491	0.844;0.844;0.903;0.844	T	0.75442	-0.3316	9	.	.	.	.	7.2314	0.26045	0.0:0.222:0.365:0.413	.	129;129;129;129	Q4U2R8-4;Q4U2R8-3;Q4U2R8;Q4U2R8-2	.;.;S22A6_HUMAN;.	F	129;108;129;129;129	ENSP00000353597:S129F;ENSP00000367102:S129F;ENSP00000396401:S129F;ENSP00000404441:S129F	.	S	-	2	0	SLC22A6	62508079	0.000000	0.05858	0.838000	0.33150	0.996000	0.88848	0.252000	0.18278	1.264000	0.44198	0.650000	0.86243	TCT	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396186.1		-	ENST00000377871.3	Missense_Mutation	SNP	11 : 62751503 - 62751503 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	152	21
ZNF326	284695	broad.mit.edu	37	1	90470725	90470725	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90470725G>A	ENST00000370447.3	+	4	252	c.131G>A	c.(130-132)gGg>gAg	p.G44E	ZNF326_ENST00000361911.5_Missense_Mutation_p.G44E|ZNF326_ENST00000340281.4_Missense_Mutation_p.G44E|ZNF326_ENST00000455342.2_Intron			Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	NA	Gly-rich.|Mediates transcriptional activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		GGATCCTATGGGGGTCAGAGA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	121	120			NA	NA	1		NA											NA				90470725		2203	4300	6503	SO:0001583	missense			BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664	284695	284695		Zinc fingers, C2H2-type	14104	protein-coding gene	gene with protein product	ZNF-protein interacting with nuclear mRNPs and DBC1	614601			NA	22446626	Standard	NM_181781	NM_182976	NA	Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000370447.3:c.131G>A	1.37:g.90470725G>A	ENSP00000359476:p.Gly44Glu	NA	B4DLN0|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	37		.	.	.	.	.	.	.	.	.	.	G	22.1	4.250062	0.80024	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000361911;ENST00000370447	T;T	0.65732	0.64;-0.17	5.38	5.38	0.77491	.	0.295538	0.31323	N	0.007841	T	0.66799	0.2826	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.70766	-0.4783	10	0.72032	D	0.01	-8.5984	17.2903	0.87154	0.0:0.0:1.0:0.0	.	44;44	A8MYX1;Q5BKZ1	.;ZN326_HUMAN	E	44	ENSP00000340796:G44E;ENSP00000359476:G44E	ENSP00000340796:G44E	G	+	2	0	ZNF326	90243313	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.385000	0.73182	2.502000	0.84385	0.453000	0.30009	GGG	ZNF326-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000029431.2		+	ENST00000370447.3	Missense_Mutation	SNP	1 : 90470725 - 90470725 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	504	79
DNAH10	196385	broad.mit.edu	37	12	124256171	124256171	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124256171G>A	ENST00000409039.3	+	3	164	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	47	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACTGAGAACCGAATCTCTAGG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	LYS/GLU	1,3763		0,1,1881	96	86	89		139	1.7	0	12		89	0,8200		0,0,4100	no	missense	DNAH10	NM_207437.3	56	0,1,5981	AA,AG,GG	NA	0.0,0.0266,0.0084	benign	47/4472	124256171	1,11963	1882	4100	5982	SO:0001583	missense			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653	196385	196385		Axonemal dyneins	2941	protein-coding gene	gene with protein product		605884	dynein, axonemal, heavy polypeptide 10		NA		Standard		NM_207437	NA	Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.139G>A	12.37:g.124256171G>A	ENSP00000386770:p.Glu47Lys	NA	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	9.494	1.101325	0.20632	2.66E-4	0.0	ENSG00000197653	ENST00000409039	T	0.22134	1.97	3.85	1.7	0.24286	.	.	.	.	.	T	0.10680	0.0261	N	0.19112	0.55	0.09310	N	1	B	0.18013	0.025	B	0.10450	0.005	T	0.34279	-0.9835	9	0.25106	T	0.35	.	2.7374	0.05244	0.2007:0.0:0.5023:0.297	.	47	Q8IVF4	DYH10_HUMAN	K	47	ENSP00000386770:E47K	ENSP00000386770:E47K	E	+	1	0	DNAH10	122822124	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.289000	0.02780	0.216000	0.20781	0.591000	0.81541	GAA	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335420.3		+	ENST00000409039.3	Missense_Mutation	SNP	12 : 124256171 - 124256171 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	100	13
MARK1	4139	broad.mit.edu	37	1	220804392	220804392	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220804392C>T	ENST00000366918.4	+	9	1456	c.859C>T	c.(859-861)Cga>Tga	p.R287*	MARK1_ENST00000366917.4_Nonsense_Mutation_p.R309*|MARK1_ENST00000402574.1_Nonsense_Mutation_p.R174*			Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	309	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AATGAAAGATCGATGGATGAA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	105	106			NA	NA	1		NA											NA				220804392		2203	4300	6503	SO:0001587	stop_gained			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141	4139	4139			6896	protein-coding gene	gene with protein product		606511			NA	9108484	Standard		NM_018650	NA	Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366918.4:c.859C>T	1.37:g.220804392C>T	ENSP00000355885:p.Arg287*	NA	D3DTB0|D3DTB1|Q2HIY1|Q5VTF9|Q5VTG0|Q96SW9|Q9P251	37		.	.	.	.	.	.	.	.	.	.	C	44	10.904794	0.99486	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	.	.	.	5.78	5.78	0.91487	.	0.068862	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	.	.	.	X	174;287;309	.	ENSP00000355884:R309X	R	+	1	2	MARK1	218871015	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.654000	0.61469	2.894000	0.99253	0.655000	0.94253	CGA	MARK1-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000090898.2		+	ENST00000366918.4	Nonsense_Mutation	SNP	1 : 220804392 - 220804392 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	360	19
USP14	9097	broad.mit.edu	37	18	197615	197615	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:197615G>T	ENST00000261601.7	+	8	685		c.e8-1		USP14_ENST00000582707.1_Splice_Site|USP14_ENST00000400266.3_Splice_Site|USP14_ENST00000383589.2_Splice_Site	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	NA					regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TTACATTACAGGATGCTAATG	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	122	120			NA	NA	18		NA											NA				197615		2203	4299	6502	SO:0001630	splice_region_variant			U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557	9097	9097		Ubiquitin-specific peptidases	12612	protein-coding gene	gene with protein product		607274	ubiquitin specific protease 14 (tRNA-guanine transglycosylase)		NA	12838346	Standard	NM_005151	NM_001037334	NA	Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.595-1G>T	18.37:g.197615G>T		NA	Q53XY5	37	CCDS32780.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475467	0.63737	.	.	ENSG00000101557	ENST00000261601;ENST00000383589;ENST00000400266	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8765	0.96875	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	USP14	187615	1.000000	0.71417	0.998000	0.56505	0.804000	0.45430	9.262000	0.95591	2.695000	0.91970	0.650000	0.86243	.	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000440305.3	Intron	+	ENST00000261601.7	Splice_Site	SNP	18 : 197615 - 197615 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	38
DMPK	1760	broad.mit.edu	37	19	46280710	46280710	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46280710C>T	ENST00000354227.5	-	8	1157	c.1021G>A	c.(1021-1023)Ggc>Agc	p.G341S	DMPK_ENST00000291270.4_Missense_Mutation_p.G341S|DMPK_ENST00000600757.1_Missense_Mutation_p.G351S|DMPK_ENST00000447742.2_Missense_Mutation_p.G341S|DMPK_ENST00000343373.4_Missense_Mutation_p.G351S|DMPK_ENST00000458663.2_Missense_Mutation_p.G341S			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	351	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CAGTCGAGGCCAAAGAAGAAG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(35;307 869 9153 24033 28903)							NA				0													55	49	51			NA	NA	19		NA											NA				46280710		2203	4300	6503	SO:0001583	missense			L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					1760	1760	2.7.11.1		2933	protein-coding gene	gene with protein product	dystrophia myotonica 1, DM protein kinase, myotonin protein kinase A, myotonic dystrophy associated protein kinase, thymopoietin homolog	605377	dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)	DM1, DM	NA	1546325, 1546326	Standard	NM_004409	NM_001288765	NA	Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000354227.5:c.1021G>A	19.37:g.46280710C>T	ENSP00000346168:p.Gly341Ser	NA	Q16205|Q6P5Z6	37		.	.	.	.	.	.	.	.	.	.	c	24.4	4.522874	0.85600	.	.	ENSG00000104936	ENST00000458663;ENST00000342805;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000343373;ENST00000348168;ENST00000354227	T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06	4.63	4.63	0.57726	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47093	D	0.000255	T	0.46889	0.1416	N	0.12471	0.22	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D	0.97110	0.993;0.999;0.999;0.998;0.998;1.0;0.999;0.999	T	0.55903	-0.8067	10	0.87932	D	0	.	15.3423	0.74306	0.0:1.0:0.0:0.0	.	341;341;367;341;341;341;388;351	Q09013-12;Q09013-16;G5E982;E5KR07;E5KR05;Q09013;Q59FU6;E5KR08	.;.;.;.;.;DMPK_HUMAN;.;.	S	341;367;341;341;341;351;351;341	ENSP00000401753:G341S;ENSP00000291270:G341S;ENSP00000413417:G341S;ENSP00000345997:G351S;ENSP00000346168:G341S	ENSP00000291270:G341S	G	-	1	0	DMPK	50972550	1.000000	0.71417	1.000000	0.80357	0.392000	0.30506	4.569000	0.60865	2.554000	0.86153	0.561000	0.74099	GGC	DMPK-003	KNOWN	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000460577.1		-	ENST00000354227.5	Missense_Mutation	SNP	19 : 46280710 - 46280710 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	401	60
ZFP2	80108	broad.mit.edu	37	5	178358719	178358719	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178358719T>C	ENST00000361362.2	+	5	935	c.405T>C	c.(403-405)tgT>tgC	p.C135C	ZFP2_ENST00000520301.1_Silent_p.C135C|ZFP2_ENST00000523286.1_Silent_p.C135C|ZFP2_ENST00000503510.2_Silent_p.C135C	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GTAATGTATGTGGGAAACACT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	64	63			NA	NA	5		NA											NA				178358719		2203	4300	6503	SO:0001819	synonymous_variant			AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939	80108	80108		Zinc fingers, C2H2-type	26138	protein-coding gene	gene with protein product			zinc finger protein 2 homolog (mouse)		NA		Standard	NM_030613	NM_030613	NA	Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.405T>C	5.37:g.178358719T>C		NA	A5PLN5|B7ZM23|Q9H6Z6	37	CCDS4440.1																																																																																			ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253470.2		+	ENST00000361362.2	Silent	SNP	5 : 178358719 - 178358719 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	406	100
HOXB8	3218	broad.mit.edu	37	17	46691781	46691781	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46691781G>T	ENST00000239144.4	-	1	520	c.286C>A	c.(286-288)Cta>Ata	p.L96I	HOXB7_ENST00000567101.2_Intron|HOXB8_ENST00000576562.1_Missense_Mutation_p.L96I	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	96						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						GCACCGAATAGGCTCTGGCGT	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	50	51			NA	NA	17		NA											NA				46691781		2203	4298	6501	SO:0001583	missense				CCDS11533.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120068	ENSG00000120068	3218	3218		Homeoboxes / ANTP class : HOXL subclass	5119	protein-coding gene	gene with protein product		142963	homeo box B8	HOX2, HOX2D	NA	1973146, 1358459	Standard		XM_005257286	NA	Approved		uc002inw.3	P17481	OTTHUMG00000159904	ENST00000239144.4:c.286C>A	17.37:g.46691781G>T	ENSP00000239144:p.Leu96Ile	NA	Q9H1I2	37	CCDS11533.1	.	.	.	.	.	.	.	.	.	.	g	13.25	2.181819	0.38511	.	.	ENSG00000120068	ENST00000239144	T	0.42900	0.96	2.97	2.97	0.34412	.	0.000000	0.50627	U	0.000116	T	0.47284	0.1437	L	0.31664	0.95	0.44635	D	0.997615	D	0.58268	0.982	D	0.67548	0.952	T	0.30995	-0.9959	10	0.19147	T	0.46	.	14.3989	0.67029	0.0:0.0:1.0:0.0	.	96	P17481	HXB8_HUMAN	I	96	ENSP00000239144:L96I	ENSP00000239144:L96I	L	-	1	2	HOXB8	44046780	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.894000	0.63206	1.685000	0.51034	0.290000	0.19541	CTA	HOXB8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358092.3		-	ENST00000239144.4	Missense_Mutation	SNP	17 : 46691781 - 46691781 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	451	81
KRT82	3888	broad.mit.edu	37	12	52799988	52799988	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52799988G>A	ENST00000257974.2	-	1	151	c.74C>T	c.(73-75)cCc>cTc	p.P25L		NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	25	Head.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GACCATCCGGGGCATGACAGC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	32	33			NA	NA	12		NA											NA				52799988		2202	4298	6500	SO:0001583	missense			Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850	3888	3888		-, Intermediate filaments type II, keratins (basic)	6459	protein-coding gene	gene with protein product	hard keratin type II 2	601078	keratin, hair, basic, 2	KRTHB2	NA	2431943, 16831889	Standard	NM_033033	NM_033033	NA	Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.74C>T	12.37:g.52799988G>A	ENSP00000257974:p.Pro25Leu	NA		37	CCDS8826.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785530	0.70337	.	.	ENSG00000161850	ENST00000257974	D	0.82526	-1.62	5.16	5.16	0.70880	.	0.000000	0.51477	D	0.000092	D	0.87265	0.6134	L	0.48986	1.54	0.58432	D	0.999992	D	0.62365	0.991	P	0.58013	0.831	D	0.87670	0.2540	10	0.54805	T	0.06	.	18.6394	0.91390	0.0:0.0:1.0:0.0	.	25	Q9NSB4	KRT82_HUMAN	L	25	ENSP00000257974:P25L	ENSP00000257974:P25L	P	-	2	0	KRT82	51086255	0.077000	0.21312	0.570000	0.28473	0.419000	0.31324	1.176000	0.31957	2.571000	0.86741	0.655000	0.94253	CCC	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405189.1		-	ENST00000257974.2	Missense_Mutation	SNP	12 : 52799988 - 52799988 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	172	29
NOTCH4	4855	broad.mit.edu	37	6	32163591	32163591	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32163591C>T	ENST00000375023.3	-	30	5773	c.5635G>A	c.(5635-5637)Gct>Act	p.A1879T	NOTCH4_ENST00000443903.2_3'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1879					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CAAGTCCGAGCCTGCAGACAA	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													9	11	10			NA	NA	6		NA											NA				32163591		1480	2647	4127	SO:0001583	missense				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301	4855	4855		Ankyrin repeat domain containing	7884	protein-coding gene	gene with protein product		164951	Notch (Drosophila) homolog 4, Notch homolog 4 (Drosophila)	INT3	NA	7835890	Standard		NM_004557	NA	Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5635G>A	6.37:g.32163591C>T	ENSP00000364163:p.Ala1879Thr	NA	B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	37	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700137	0.48307	.	.	ENSG00000204301	ENST00000375023	D	0.81908	-1.55	4.01	1.18	0.20946	.	0.398940	0.18440	N	0.141164	T	0.46405	0.1391	N	0.24115	0.695	0.19575	N	0.999962	P;B	0.43477	0.808;0.011	B;B	0.35353	0.201;0.007	T	0.46386	-0.9195	10	0.62326	D	0.03	.	3.5542	0.07858	0.1977:0.5916:0.0:0.2108	.	1879;1878	Q99466;B0S882	NOTC4_HUMAN;.	T	1879	ENSP00000364163:A1879T	ENSP00000364163:A1879T	A	-	1	0	NOTCH4	32271569	0.046000	0.20272	0.001000	0.08648	0.016000	0.09150	0.250000	0.18235	0.105000	0.17753	0.455000	0.32223	GCT	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076045.2		-	ENST00000375023.3	Missense_Mutation	SNP	6 : 32163591 - 32163591 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	135	27
BNIP3	664	broad.mit.edu	37	10	133784250	133784250	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:133784250C>T	ENST00000368636.4	-	5	555	c.431G>A	c.(430-432)aGc>aAc	p.S144N	BNIP3_ENST00000540159.1_Missense_Mutation_p.S144N	NM_004052.2	NP_004043.2	Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3	144					cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability	dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm	GTPase binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTTCCTCATGCTGAGGGTGGC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	71	73			NA	NA	10		NA											NA				133784250		2203	4298	6501	SO:0001583	missense			U15174	CCDS7663.1	10q26.3	2003-11-05	2002-08-29		ENSG00000176171	ENSG00000176171	664	664			1084	protein-coding gene	gene with protein product		603293	BCL2/adenovirus E1B 19kD-interacting protein 3		NA	7954800	Standard		NM_004052	NA	Approved	Nip3	uc001lkv.1	Q12983	OTTHUMG00000019278	ENST00000368636.4:c.431G>A	10.37:g.133784250C>T	ENSP00000357625:p.Ser144Asn	NA	O14620|Q96GP0	37	CCDS7663.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751290	0.89753	.	.	ENSG00000176171	ENST00000368636;ENST00000540159	.	.	.	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	D	0.84737	0.5538	M	0.88640	2.97	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.88300	0.2949	9	0.87932	D	0	-10.6238	17.9813	0.89141	0.0:1.0:0.0:0.0	.	144	Q12983	BNIP3_HUMAN	N	144	.	ENSP00000357625:S144N	S	-	2	0	BNIP3	133634240	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	6.744000	0.74854	2.423000	0.82170	0.655000	0.94253	AGC	BNIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051039.1		-	ENST00000368636.4	Missense_Mutation	SNP	10 : 133784250 - 133784250 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	309	64
CLEC12B	387837	broad.mit.edu	37	12	10168306	10168306	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10168306C>A	ENST00000396502.1	+	5	788	c.660C>A	c.(658-660)ggC>ggA	p.G220G	RP11-133L14.5_ENST00000544225.1_RNA|CLEC12B_ENST00000338896.5_Silent_p.G220G	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	220	C-type lectin.					integral to membrane|plasma membrane	receptor activity|sugar binding			central_nervous_system(2)|large_intestine(2)|lung(5)	9						GGGAAGATGGCTCTGTTCCCT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	140	143			NA	NA	12		NA											NA				10168306		2203	4300	6503	SO:0001819	synonymous_variant			AK128243	CCDS8610.1, CCDS44830.1	12p13.2	2010-08-17			ENSG00000256660	ENSG00000256660	387837	387837		C-type lectin domain containing	31966	protein-coding gene	gene with protein product					NA	17562706	Standard	NM_205852	NM_205852	NA	Approved		uc001qwz.2	Q2HXU8	OTTHUMG00000168397	ENST00000396502.1:c.660C>A	12.37:g.10168306C>A		NA	Q6UWF2|Q6ZRG0	37	CCDS8610.1																																																																																			CLEC12B-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399561.1		+	ENST00000396502.1	Silent	SNP	12 : 10168306 - 10168306 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	609	123
TSHR	7253	broad.mit.edu	37	14	81609861	81609861	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:81609861G>A	ENST00000541158.2	+	11	1781	c.1459G>A	c.(1459-1461)Gac>Aac	p.D487N	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.D487N			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	487					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CCATGCCATCGACTGGCAGAC	0.552		NA	Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism							NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	0								G	ASN/ASP	0,4406		0,0,2203	548	397	448		1459	5.6	1	14		448	1,8599	1.2+/-3.3	0,1,4299	no	missense	TSHR	NM_000369.2	23	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	487/765	81609861	1,13005	2203	4300	6503	SO:0001583	missense			AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409	7253	7253		GPCR / Class A : Gonadotropin and TSH receptors	12373	protein-coding gene	gene with protein product		603372			NA	2558651, 2610690	Standard	NM_000369	NM_001018036	NA	Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1459G>A	14.37:g.81609861G>A	ENSP00000441235:p.Asp487Asn	NA	Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	37	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453515	0.63290	0.0	1.16E-4	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000298171	D;D	0.85484	-1.99;-1.99	5.64	5.64	0.86602	.	0.084418	0.85682	D	0.000000	D	0.84147	0.5408	M	0.74881	2.28	0.58432	D	0.999999	B	0.34161	0.439	B	0.32149	0.141	D	0.84814	0.0792	10	0.66056	D	0.02	.	12.9763	0.58538	0.074:0.0:0.926:0.0	.	487	F5GYU5	.	N	487;134;487	ENSP00000441235:D487N;ENSP00000298171:D487N	ENSP00000298171:D487N	D	+	1	0	TSHR	80679614	1.000000	0.71417	0.988000	0.46212	0.969000	0.65631	8.061000	0.89467	2.664000	0.90586	0.561000	0.74099	GAC	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413364.1		+	ENST00000541158.2	Missense_Mutation	SNP	14 : 81609861 - 81609861 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	88
ZNF264	9422	broad.mit.edu	37	19	57716805	57716805	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57716805G>T	ENST00000263095.6	+	3	615	c.201G>T	c.(199-201)gaG>gaT	p.E67D	ZNF264_ENST00000536056.1_Missense_Mutation_p.E67D	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		GCCACCTAGAGCATGGGCAGG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	48	52			NA	NA	19		NA											NA				57716805		2203	4300	6503	SO:0001583	missense			AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844	NA	9422		Zinc fingers, C2H2-type, -	13057	protein-coding gene	gene with protein product		604668			NA	9455477	Standard		NM_003417	NA	Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.201G>T	19.37:g.57716805G>T	ENSP00000263095:p.Glu67Asp	NA	A8K8Y9|Q9P1V0	37	CCDS33127.1	.	.	.	.	.	.	.	.	.	.	G	6.775	0.511876	0.12944	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.01113	5.32;5.32	2.62	-2.2	0.06994	Krueppel-associated box (3);	.	.	.	.	T	0.01156	0.0038	L	0.42245	1.32	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.45086	-0.9285	9	0.56958	D	0.05	.	3.385	0.07268	0.4793:0.0:0.331:0.1897	.	67	O43296	ZN264_HUMAN	D	67	ENSP00000263095:E67D;ENSP00000440376:E67D	ENSP00000263095:E67D	E	+	3	2	ZNF264	62408617	0.003000	0.15002	0.001000	0.08648	0.003000	0.03518	-0.410000	0.07151	-0.380000	0.07894	-1.863000	0.00559	GAG	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465080.1		+	ENST00000263095.6	Missense_Mutation	SNP	19 : 57716805 - 57716805 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	96	24
ZNF398	57541	broad.mit.edu	37	7	148851380	148851380	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148851380G>T	ENST00000475153.1	+	2	635	c.368G>T	c.(367-369)aGg>aTg	p.R123M	ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.R128M|ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000491174.1_5'UTR			Q8TD17	ZN398_HUMAN	zinc finger protein 398	123					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CTGCGCAACAGGAACTTCTGG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	56	54			NA	NA	7		NA											NA				148851380		2203	4300	6503	SO:0001583	missense			AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024	NA	57541		Zinc fingers, C2H2-type, -	18373	protein-coding gene	gene with protein product					NA	11779858	Standard		NM_170686	NA	Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.368G>T	7.37:g.148851380G>T	ENSP00000420418:p.Arg123Met	NA	A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	37	CCDS5894.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000785	0.74818	.	.	ENSG00000197024	ENST00000475153;ENST00000540950	T;T	0.10860	2.83;2.84	5.18	5.18	0.71444	.	0.000000	0.53938	D	0.000058	T	0.30916	0.0780	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.99;0.996	T	0.00995	-1.1487	10	0.54805	T	0.06	-22.2834	14.2249	0.65853	0.0:0.0:1.0:0.0	.	128;123	B4DXA9;Q8TD17	.;ZN398_HUMAN	M	123;128	ENSP00000420418:R123M;ENSP00000439340:R128M	ENSP00000420418:R123M	R	+	2	0	ZNF398	148482313	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.382000	0.44345	2.420000	0.82092	0.655000	0.94253	AGG	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352722.2		+	ENST00000475153.1	Missense_Mutation	SNP	7 : 148851380 - 148851380 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	551	84
NELFB	25920	broad.mit.edu	37	9	140167012	140167012	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140167012G>A	ENST00000343053.4	+	12	1878	c.1541G>A	c.(1540-1542)aGg>aAg	p.R514K		NM_015456.3	NP_056271.2			negative elongation factor complex member B	NA											NA						CTGCACCCCAGGGTGGCCCCG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0									LYS/ARG	1,4401		0,1,2200	23	22	22		1541	3.7	1	9		22	0,8596		0,0,4298	no	missense	COBRA1	NM_015456.3	26	0,1,6498	AA,AG,GG	NA	0.0,0.0227,0.0077	benign	514/581	140167012	1,12997	2201	4298	6499	SO:0001583	missense			AF464935	CCDS7040.1	9q34	2013-01-31	2013-01-31	2013-01-31	ENSG00000188986	ENSG00000188986	25920	25920			24324	protein-coding gene	gene with protein product		611180	cofactor of BRCA1	COBRA1	NA	11230166, 10574461, 17910036, 17659869	Standard	NM_015456	NM_015456	NA	Approved	KIAA1182, NELF-B	uc004cmm.4	Q8WX92	OTTHUMG00000131778	ENST00000343053.4:c.1541G>A	9.37:g.140167012G>A	ENSP00000339495:p.Arg514Lys	NA		37	CCDS7040.1	.	.	.	.	.	.	.	.	.	.	g	9.414	1.081248	0.20309	2.27E-4	0.0	ENSG00000188986	ENST00000343053	.	.	.	4.76	3.72	0.42706	.	0.049229	0.85682	D	0.000000	T	0.06416	0.0165	N	0.00246	-1.78	0.31905	N	0.615462	B	0.02656	0.0	B	0.04013	0.001	T	0.35549	-0.9784	9	0.02654	T	1	-44.3331	3.7135	0.08428	0.3558:0.0:0.6442:0.0	.	514	Q8WX92	NELFB_HUMAN	K	514	.	ENSP00000339495:R514K	R	+	2	0	COBRA1	139286833	1.000000	0.71417	0.998000	0.56505	0.886000	0.51366	5.735000	0.68587	2.200000	0.70718	0.479000	0.44913	AGG	NELFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254710.1		+	ENST00000343053.4	Missense_Mutation	SNP	9 : 140167012 - 140167012 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	124	28
ANK3	288	broad.mit.edu	37	10	61848050	61848050	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61848050T>G	ENST00000280772.2	-	29	3586	c.3395A>C	c.(3394-3396)cAg>cCg	p.Q1132P	ANK3_ENST00000503366.1_Missense_Mutation_p.Q1133P|ANK3_ENST00000355288.2_Missense_Mutation_p.Q266P|ANK3_ENST00000373827.2_Missense_Mutation_p.Q1126P	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	NA					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGCAAAATACTGGGGGAAATC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	117	116			NA	NA	10		NA											NA				61848050		2203	4300	6503	SO:0001583	missense			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150	288	288		Ankyrin repeat domain containing	494	protein-coding gene	gene with protein product	ankyrin-3, node of Ranvier, ankyrin-G	600465			NA	7665168	Standard	NM_020987	NM_020987	NA	Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3395A>C	10.37:g.61848050T>G	ENSP00000280772:p.Gln1132Pro	NA	Q5VXD5	37	CCDS7258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.8|20.8	4.048615|4.048615	0.75846|0.75846	.|.	.|.	ENSG00000151150|ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348|ENST00000467420	T;T;T;T|.	0.74842|.	-0.21;-0.88;-0.88;-0.88|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.40064|.	N|.	0.001198|.	T|T	0.79986|0.79986	0.4541|0.4541	M|M	0.84846|0.84846	2.72|2.72	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.76494|.	0.994;0.998;0.999;0.999;0.998;0.997;0.996|.	P;D;D;D;D;D;D|.	0.79784|.	0.885;0.99;0.993;0.979;0.986;0.947;0.979|.	T|T	0.81678|0.81678	-0.0824|-0.0824	10|5	0.87932|.	D|.	0|.	.|.	16.8222|16.8222	0.85835|0.85835	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1133;266;665;1126;1132;367;266|.	E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2|.	.;.;.;.;ANK3_HUMAN;.;.|.	P|R	1132;1126;266;266;1133;1112;367;767;767;265;665|190	ENSP00000280772:Q1132P;ENSP00000362933:Q1126P;ENSP00000347436:Q266P;ENSP00000425236:Q1133P|.	ENSP00000280772:Q1132P|.	Q|S	-|-	2|1	0|0	ANK3|ANK3	61518056|61518056	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.676000|7.676000	0.84012|0.84012	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	CAG|AGT	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048201.4		-	ENST00000280772.2	Missense_Mutation	SNP	10 : 61848050 - 61848050 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	620	122
HAS2	3037	broad.mit.edu	37	8	122626577	122626577	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:122626577T>C	ENST00000303924.4	-	4	1968	c.1431A>G	c.(1429-1431)ggA>ggG	p.G477G		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	477						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CTGGAATGAGTCCTATGAAAT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	115	115			NA	NA	8		NA											NA				122626577		2203	4300	6503	SO:0001819	synonymous_variant			U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	3037	3037	2.4.1.212	Glycosyltransferase family 2 domain containing	4819	protein-coding gene	gene with protein product		601636			NA	9169154	Standard	NM_005328	NM_005328	NA	Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.1431A>G	8.37:g.122626577T>C		NA	Q32MM3	37	CCDS6335.1																																																																																			HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381150.2		-	ENST00000303924.4	Silent	SNP	8 : 122626577 - 122626577 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	692	76
OR5L2	26338	broad.mit.edu	37	11	55595572	55595572	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55595572G>A	ENST00000378397.1	+	1	878	c.878G>A	c.(877-879)aGa>aAa	p.R293K		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TACAGCCTGAGAAATAAGGAT	0.473		NA								HNSCC(27;0.073)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	48	48			NA	NA	11		NA											NA				55595572		2200	4296	6496	SO:0001583	missense			AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030	26338	26338		GPCR / Class A : Olfactory receptors	8351	protein-coding gene	gene with protein product					NA	1370859	Standard	NM_001004739	NM_001004739	NA	Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.878G>A	11.37:g.55595572G>A	ENSP00000367650:p.Arg293Lys	NA	Q6IF66|Q96RB2	37	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	15.30	2.792977	0.50102	.	.	ENSG00000205030	ENST00000378397	T	0.39997	1.05	4.95	4.95	0.65309	.	0.000000	0.64402	D	0.000018	T	0.52677	0.1749	M	0.79343	2.45	0.31168	N	0.703581	P	0.50943	0.94	P	0.46208	0.507	T	0.65421	-0.6172	10	0.59425	D	0.04	-22.9325	17.1913	0.86880	0.0:0.0:1.0:0.0	.	293	Q8NGL0	OR5L2_HUMAN	K	293	ENSP00000367650:R293K	ENSP00000367650:R293K	R	+	2	0	OR5L2	55352148	1.000000	0.71417	0.985000	0.45067	0.146000	0.21551	5.069000	0.64370	2.471000	0.83476	0.536000	0.68110	AGA	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391516.1		+	ENST00000378397.1	Missense_Mutation	SNP	11 : 55595572 - 55595572 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	271	60
SLC2A10	81031	broad.mit.edu	37	20	45353838	45353838	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45353838C>T	ENST00000359271.2	+	2	413	c.163C>T	c.(163-165)Ctc>Ttc	p.L55F		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	55						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GGGCAGCCTGCTCCTGGGGGC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	68	69			NA	NA	20		NA											NA				45353838		2203	4300	6503	SO:0001583	missense			AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496	81031	81031		Solute carriers	13444	protein-coding gene	gene with protein product		606145			NA	11247674	Standard		NM_030777	NA	Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.163C>T	20.37:g.45353838C>T	ENSP00000352216:p.Leu55Phe	NA	A8K4J6|Q3MIX5|Q9H4I6	37	CCDS13402.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.618810	0.46736	.	.	ENSG00000197496	ENST00000359271	T	0.74737	-0.87	4.42	4.42	0.53409	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000003	D	0.85831	0.5788	M	0.85197	2.74	0.47905	D	0.999547	D	0.89917	1.0	D	0.91635	0.999	D	0.87111	0.2185	10	0.59425	D	0.04	.	10.9873	0.47528	0.0:0.9123:0.0:0.0877	.	55	O95528	GTR10_HUMAN	F	55	ENSP00000352216:L55F	ENSP00000352216:L55F	L	+	1	0	SLC2A10	44787245	1.000000	0.71417	0.999000	0.59377	0.510000	0.34073	2.494000	0.45329	2.160000	0.67779	0.407000	0.27541	CTC	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079578.2		+	ENST00000359271.2	Missense_Mutation	SNP	20 : 45353838 - 45353838 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	59
ZFHX3	463	broad.mit.edu	37	16	72821392	72821392	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72821392C>T	ENST00000268489.5	-	10	11455	c.10783G>A	c.(10783-10785)Gac>Aac	p.D3595N	ZFHX3_ENST00000397992.5_Missense_Mutation_p.D2681N	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3595					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGGGGGCTGTCGTTTGAGTGA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	120	129			NA	NA	16		NA											NA				72821392		2198	4300	6498	SO:0001583	missense			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836	463	463		Zinc fingers, C2H2-type, Homeoboxes / ZF class	777	protein-coding gene	gene with protein product		104155	AT-binding transcription factor 1	ATBF1	NA	1719379, 7592926	Standard	NM_006885	NM_006885	NA	Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10783G>A	16.37:g.72821392C>T	ENSP00000268489:p.Asp3595Asn	NA	D3DWS8|O15101|Q13719	37	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.173645	0.38413	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.29142	1.58;1.58	3.95	3.95	0.45737	.	0.000000	0.49305	D	0.000151	T	0.10035	0.0246	N	0.01048	-1.04	0.44092	D	0.996856	B	0.15473	0.013	B	0.04013	0.001	T	0.24905	-1.0147	10	0.02654	T	1	.	16.3601	0.83259	0.0:1.0:0.0:0.0	.	3595	Q15911	ZFHX3_HUMAN	N	3595;2681	ENSP00000268489:D3595N;ENSP00000438926:D2681N	ENSP00000268489:D3595N	D	-	1	0	ZFHX3	71378893	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.800000	0.27042	1.914000	0.55421	0.557000	0.71058	GAC	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269008.1		-	ENST00000268489.5	Missense_Mutation	SNP	16 : 72821392 - 72821392 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	630	176
ZDHHC2	51201	broad.mit.edu	37	8	17055914	17055914	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17055914T>C	ENST00000262096.8	+	6	1163	c.468T>C	c.(466-468)caT>caC	p.H156H		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	156						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		TGGATCATCATTGTCCATGGT	0.259		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	144	148			NA	NA	8		NA											NA				17055914		1824	4085	5909	SO:0001819	synonymous_variant			AB023584	CCDS47810.1	8p22	2008-05-15			ENSG00000104219	ENSG00000104219	51201	51201		Zinc fingers, DHHC-type	18469	protein-coding gene	gene with protein product					NA	10918388	Standard	NM_016353	NM_016353	NA	Approved	ZNF372	uc003wxe.3	Q9UIJ5	OTTHUMG00000163860	ENST00000262096.8:c.468T>C	8.37:g.17055914T>C		NA	D3DSP5	37	CCDS47810.1																																																																																			ZDHHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376014.2		+	ENST00000262096.8	Silent	SNP	8 : 17055914 - 17055914 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	175	29
ANO7	50636	broad.mit.edu	37	2	242149899	242149899	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242149899G>A	ENST00000274979.8	+	15	1740	c.1637G>A	c.(1636-1638)aGc>aAc	p.S546N	ANO7_ENST00000402430.3_Missense_Mutation_p.S545N	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	546						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CGCATCGCCAGCCTCACGGGG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	90	95			NA	NA	2		NA											NA				242149899		2203	4300	6503	SO:0001583	missense			AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205	50636	50636		Ion channels / Chloride channels : Calcium activated : Anoctamins	31677	protein-coding gene	gene with protein product		605096	transmembrane protein 16G	PCANAP5, TMEM16G	NA	14981236, 15375614, 24692353	Standard	NM_001001891	NM_001001891	NA	Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.1637G>A	2.37:g.242149899G>A	ENSP00000274979:p.Ser546Asn	NA	Q6IWH6	37	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.325705	0.24080	.	.	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.65364	-0.15;-0.15	3.49	-0.713	0.11223	.	0.271180	0.33534	N	0.004817	T	0.45915	0.1366	L	0.37897	1.145	0.28974	N	0.889087	B	0.22080	0.064	B	0.29942	0.109	T	0.36383	-0.9750	10	0.16420	T	0.52	.	8.2936	0.31971	0.5136:0.0:0.4864:0.0	.	546	Q6IWH7	ANO7_HUMAN	N	546;545	ENSP00000274979:S546N;ENSP00000385418:S545N	ENSP00000274979:S546N	S	+	2	0	ANO7	241798572	0.520000	0.26250	0.053000	0.19242	0.273000	0.26683	0.728000	0.26013	-0.134000	0.11516	0.313000	0.20887	AGC	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323509.1		+	ENST00000274979.8	Missense_Mutation	SNP	2 : 242149899 - 242149899 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	524	88
KTN1	3895	broad.mit.edu	37	14	56103175	56103175	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:56103175A>G	ENST00000395314.3	+	10	1538	c.1470A>G	c.(1468-1470)ctA>ctG	p.L490L	KTN1_ENST00000395309.3_Silent_p.L490L|KTN1_ENST00000413890.2_Silent_p.L490L|KTN1_ENST00000416613.1_Silent_p.L490L|KTN1_ENST00000395308.1_Silent_p.L490L|KTN1_ENST00000438792.2_Silent_p.L490L|KTN1_ENST00000395311.1_Silent_p.L490L	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	490					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						AGGTTCAACTACAAGAAGCTG	0.403		NA	T	RET	papillary thryoid									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	0													75	74	74			NA	NA	14		NA											NA				56103175		2203	4300	6503	SO:0001819	synonymous_variant				CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777	NA	3895			6467	protein-coding gene	gene with protein product		600381			NA	9605849	Standard		NM_001079521	NA	Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.1470A>G	14.37:g.56103175A>G		NA	Q13999|Q14707|Q15387|Q86W57	37	CCDS41957.1																																																																																			KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276912.2		+	ENST00000395314.3	Silent	SNP	14 : 56103175 - 56103175 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	73	12
NSD1	64324	broad.mit.edu	37	5	176638654	176638654	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176638654C>A	ENST00000439151.2	+	5	3299	c.3254C>A	c.(3253-3255)cCt>cAt	p.P1085H	NSD1_ENST00000361032.4_Missense_Mutation_p.P982H|NSD1_ENST00000354179.4_Missense_Mutation_p.P816H|NSD1_ENST00000347982.4_Missense_Mutation_p.P816H	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1085					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCAGAAGATCCTAGTAAAGAG	0.453		NA	T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													117	127	124			NA	NA	5		NA											NA				176638654		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671	64324	64324		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	14234	protein-coding gene	gene with protein product		606681	Sotos syndrome	STO	NA	9628876, 11896389	Standard	NM_172349	NM_022455	NA	Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3254C>A	5.37:g.176638654C>A	ENSP00000395929:p.Pro1085His	NA	Q96PD8|Q96RN7	37	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	8.717	0.913458	0.17907	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93019	-3.04;-3.04;-3.04;-3.15	4.35	1.55	0.23275	.	0.609322	0.14615	N	0.308762	D	0.84275	0.5436	N	0.24115	0.695	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.002;0.002;0.0	T	0.69198	-0.5208	9	.	.	.	.	4.1341	0.10162	0.1629:0.5913:0.1574:0.0885	.	816;982;1085	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	H	816;1085;816;982	ENSP00000346111:P816H;ENSP00000395929:P1085H;ENSP00000343209:P816H;ENSP00000354310:P982H	.	P	+	2	0	NSD1	176571260	0.008000	0.16893	0.001000	0.08648	0.001000	0.01503	0.727000	0.25999	0.205000	0.20568	-0.257000	0.10917	CCT	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253412.2		+	ENST00000439151.2	Missense_Mutation	SNP	5 : 176638654 - 176638654 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	579	155
APOH	350	broad.mit.edu	37	17	64216739	64216739	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:64216739C>T	ENST00000205948.6	-	5	574	c.537G>A	c.(535-537)gcG>gcA	p.A179A		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	179	Sushi 3.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding	p.A179A(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TTCCAAACATCGCATGTTGTG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(155;624 1882 16869 48804 51309)							NA				1	Substitution - coding silent(1)	large_intestine(1)						C		1,4405	2.1+/-5.4	0,1,2202	173	157	163		537	-10.7	0	17		163	0,8600		0,0,4300	no	coding-synonymous	APOH	NM_000042.2		0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077		179/346	64216739	1,13005	2203	4300	6503	SO:0001819	synonymous_variant				CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583	350	350		Apolipoproteins	616	protein-coding gene	gene with protein product	beta-2-glycoprotein I	138700		B2G1	NA	1582254	Standard	NM_000042	NM_000042	NA	Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.537G>A	17.37:g.64216739C>T		NA	B2R9M3|Q9UCN7	37	CCDS11663.1																																																																																			APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000446926.1		-	ENST00000205948.6	Silent	SNP	17 : 64216739 - 64216739 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	434	74
FOLR3	2352	broad.mit.edu	37	11	71850696	71850696	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71850696G>A	ENST00000445078.2	+	5	750	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	FOLR3_ENST00000442948.2_Missense_Mutation_p.A186T|FOLR3_ENST00000456237.1_Missense_Mutation_p.A229T			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	185					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	CACTCCAGCCGCCCTTTGTGA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	45	43			NA	NA	11		NA											NA				71850696		2199	4292	6491	SO:0001583	missense			U08471	CCDS73344.1	11q13.4	2012-11-14			ENSG00000110203	ENSG00000110203	2352	2352			3795	protein-coding gene	gene with protein product		602469			NA	8110752	Standard	NM_000804	NM_000804	NA	Approved	FR-G	uc001orx.1	P41439	OTTHUMG00000167870	ENST00000445078.2:c.679G>A	11.37:g.71850696G>A	ENSP00000390338:p.Ala227Thr	NA		37		.	.	.	.	.	.	.	.	.	.	N	12.05	1.820448	0.32145	.	.	ENSG00000110203	ENST00000445078;ENST00000456237;ENST00000442948	T;T;T	0.76839	-1.05;-1.05;-1.05	2.94	-0.6	0.11642	Folate receptor-like (1);	0.923253	0.08805	U	0.891177	T	0.75221	0.3820	.	.	.	0.09310	N	1	D;P	0.63046	0.992;0.948	P;P	0.52793	0.709;0.7	T	0.62891	-0.6758	8	.	.	.	.	3.5719	0.07921	0.2756:0.0:0.5283:0.196	.	229;185	E9PGT2;P41439	.;FOLR3_HUMAN	T	227;229;186	ENSP00000390338:A227T;ENSP00000399235:A229T;ENSP00000411161:A186T	.	A	+	1	0	FOLR3	71528344	0.001000	0.12720	0.004000	0.12327	0.006000	0.05464	0.804000	0.27098	0.092000	0.17331	0.467000	0.42956	GCC	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	NA	protein_coding	OTTHUMT00000396739.1		+	ENST00000445078.2	Missense_Mutation	SNP	11 : 71850696 - 71850696 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	477	92
CHAF1B	8208	broad.mit.edu	37	21	37769717	37769717	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37769717A>G	ENST00000314103.5	+	6	637	c.486A>G	c.(484-486)caA>caG	p.Q162Q	CHAF1B_ENST00000480486.1_3'UTR	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	NA					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						TTGTAGGACAAAAGATATCAA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	48	47			NA	NA	21		NA											NA				37769717		2203	4300	6503	SO:0001819	synonymous_variant			U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259	8208	8208		WD repeat domain containing	1911	protein-coding gene	gene with protein product	M-phase phosphoprotein 7, Chromatin assembly factor I, p60 subunit, human chromatin assembly factor-I p60 subunit	601245			NA	7600578, 8792829	Standard	NM_005441	NM_005441	NA	Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.486A>G	21.37:g.37769717A>G		NA	Q99548	37	CCDS13644.1																																																																																			CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000194616.2		+	ENST00000314103.5	Silent	SNP	21 : 37769717 - 37769717 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	181	11
UGT3A1	133688	broad.mit.edu	37	5	35965575	35965575	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35965575A>C	ENST00000507113.1	-	3	846	c.654T>G	c.(652-654)gaT>gaG	p.D218E	UGT3A1_ENST00000274278.3_Missense_Mutation_p.D252E|UGT3A1_ENST00000503189.1_Missense_Mutation_p.D252E|UGT3A1_ENST00000333811.4_Missense_Mutation_p.D198E|UGT3A1_ENST00000513233.1_Intron			Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	252						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAAAGGCAAAATCAGAGTTAA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	117	117			NA	NA	5		NA											NA				35965575		2203	4300	6503	SO:0001583	missense				CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626	133688	133688		UDP glucuronosyltransferases	26625	protein-coding gene	gene with protein product					NA		Standard	NM_152404	NM_152404	NA	Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000507113.1:c.654T>G	5.37:g.35965575A>C	ENSP00000426100:p.Asp218Glu	NA	Q8NAW4|Q96DM6	37		.	.	.	.	.	.	.	.	.	.	A	14.71	2.617917	0.46736	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113;ENST00000333811	T;T;T;T	0.61859	0.07;0.07;0.07;0.07	3.05	0.95	0.19572	.	0.000000	0.64402	D	0.000001	T	0.73613	0.3609	M	0.88704	2.975	0.37020	D	0.896172	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.79108	0.975;0.99;0.992;0.99	T	0.73119	-0.4083	10	0.32370	T	0.25	.	8.1298	0.31020	0.2254:0.0:0.7746:0.0	.	218;252;198;252	E9PD17;B7Z8Q8;G5E961;Q6NUS8	.;.;.;UD3A1_HUMAN	E	252;252;218;198	ENSP00000274278:D252E;ENSP00000427079:D252E;ENSP00000426100:D218E;ENSP00000328033:D198E	ENSP00000274278:D252E	D	-	3	2	UGT3A1	36001332	1.000000	0.71417	0.966000	0.40874	0.875000	0.50365	0.433000	0.21477	0.091000	0.17302	-0.736000	0.03550	GAT	UGT3A1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000367193.2		-	ENST00000507113.1	Missense_Mutation	SNP	5 : 35965575 - 35965575 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	501	81
PTPRO	5800	broad.mit.edu	37	12	15654735	15654735	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15654735C>T	ENST00000281171.4	+	5	1173	c.843C>T	c.(841-843)tcC>tcT	p.S281S	PTPRO_ENST00000348962.2_Silent_p.S281S|PTPRO_ENST00000543886.1_Silent_p.S281S	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	281	Fibronectin type-III 3.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				ACATTTCTTCCGGTTGGCCTG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	64	65			NA	NA	12		NA											NA				15654735		2203	4300	6503	SO:0001819	synonymous_variant			U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490	5800	5800		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing	9678	protein-coding gene	gene with protein product	osteoclastic transmembrane protein-tyrosine phosphatase	600579			NA	7519601, 7665166, 21722858	Standard		NM_030667	NA	Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.843C>T	12.37:g.15654735C>T		NA	A0AV39|Q13101	37	CCDS8675.1																																																																																			PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401079.1		+	ENST00000281171.4	Silent	SNP	12 : 15654735 - 15654735 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	244	38
KRT6C	286887	broad.mit.edu	37	12	52863465	52863465	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52863465G>A	ENST00000252250.6	-	7	1460	c.1413C>T	c.(1411-1413)ggC>ggT	p.G471G		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	471	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		TGCACTCCTCGCCCTCCAGCA	0.582		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	98	88	91		1413	-1.2	1	12		91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KRT6C	NM_173086.4		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		471/565	52863465	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465	286887	286887		-, Intermediate filaments type II, keratins (basic)	20406	protein-coding gene	gene with protein product		612315	keratin 6E	KRT6E	NA	7543104, 16831889	Standard	NM_173086	NM_173086	NA	Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1413C>T	12.37:g.52863465G>A		NA	A1L4L5|P48666|Q2TAZ9|Q7RTN9	37	CCDS8829.1																																																																																			KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404976.1		-	ENST00000252250.6	Silent	SNP	12 : 52863465 - 52863465 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	637	108
C1QL2	165257	broad.mit.edu	37	2	119914429	119914429	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:119914429G>A	ENST00000272520.3	-	2	1432	c.813C>T	c.(811-813)ggC>ggT	p.G271G		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	271	C1q.					collagen				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						TGTTATTATTGCCTCCGTGAG	0.612		NA								HNSCC(49;0.14)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	177	173			NA	NA	2		NA											NA				119914429		2197	4296	6493	SO:0001819	synonymous_variant			AF525315	CCDS42737.1	2q14.2	2009-05-20			ENSG00000144119	ENSG00000144119	165257	165257			24181	protein-coding gene	gene with protein product	C1q and tumor necrosis factor related protein 10	614330			NA	18783346	Standard	NM_182528	NM_182528	NA	Approved	CTRP10, C1QTNF10	uc002tlo.2	Q7Z5L3	OTTHUMG00000153271	ENST00000272520.3:c.813C>T	2.37:g.119914429G>A		NA		37	CCDS42737.1																																																																																			C1QL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330527.2		-	ENST00000272520.3	Silent	SNP	2 : 119914429 - 119914429 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	929	75
TTC17	55761	broad.mit.edu	37	11	43418898	43418898	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43418898C>T	ENST00000039989.4	+	7	789	c.775C>T	c.(775-777)Cac>Tac	p.H259Y	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Splice_Site_p.H259Y	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	259							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TTTCCTTAGGCACAATAAAGA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	128	137			NA	NA	11		NA											NA				43418898		2203	4300	6503	SO:0001630	splice_region_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.774-1C>T	11.37:g.43418898C>T		NA		37	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804898	0.70682	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.51574	0.7;0.7	5.92	5.92	0.95590	.	0.183710	0.64402	D	0.000012	T	0.38799	0.1054	N	0.19112	0.55	0.34736	D	0.730297	P;P;P	0.50443	0.824;0.545;0.935	B;B;B	0.43508	0.242;0.124;0.422	T	0.36768	-0.9734	10	0.21014	T	0.42	-12.6988	20.3206	0.98668	0.0:1.0:0.0:0.0	.	259;259;259	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	Y	259	ENSP00000299240:H259Y;ENSP00000039989:H259Y	ENSP00000039989:H259Y	H	+	1	0	TTC17	43375474	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.520000	0.60524	2.809000	0.96659	0.655000	0.94253	CAC	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389577.2	Missense_Mutation	+	ENST00000039989.4	Splice_Site	SNP	11 : 43418898 - 43418898 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	617	108
ABL2	27	broad.mit.edu	37	1	179112077	179112077	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179112077C>T	ENST00000344730.3	-	1	147	c.103G>A	c.(103-105)Gac>Aac	p.D35N	ABL2_ENST00000502732.1_Intron|ABL2_ENST00000507173.1_Intron|ABL2_ENST00000504405.1_Missense_Mutation_p.D35N|ABL2_ENST00000392043.3_Intron|ABL2_ENST00000512653.1_Missense_Mutation_p.D35N|ABL2_ENST00000408940.3_Missense_Mutation_p.D35N|ABL2_ENST00000367623.4_Intron|ABL2_ENST00000511413.1_Intron	NM_001136000.2|NM_005158.4	NP_001129472.1|NP_005149.4	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	0	CAP.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CCTGTTAAGTCGGGTAGAGCA	0.433		NA	T	ETV6	AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1q24-q25	27	v-abl Abelson murine leukemia viral oncogene homolog 2		L	0								C	ASN/ASP,,,,,ASN/ASP,ASN/ASP,	4,3836		0,4,1916	94	92	93		103,,,,,103,103,	-6.4	0	1		93	0,8258		0,0,4129	no	missense,intron,intron,intron,intron,missense,missense,intron	ABL2	NM_001136000.2,NM_001136001.1,NM_001168236.1,NM_001168237.1,NM_001168238.1,NM_001168239.1,NM_005158.4,NM_007314.3	23,,,,,23,23,	0,4,6045	TT,TC,CC	NA	0.0,0.1042,0.0331	benign,,,,,benign,benign,	35/1065,,,,,35/1044,35/1168,	179112077	4,12094	1920	4129	6049	SO:0001583	missense			M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322	27	27		SH2 domain containing	77	protein-coding gene	gene with protein product	Abelson-related gene	164690	v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene), v-abl Abelson murine leukemia viral oncogene homolog 2, c-abl oncogene 2, non-receptor tyrosine kinase	ABLL	NA	3787260	Standard	NM_005158	NM_001136001	NA	Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000344730.3:c.103G>A	1.37:g.179112077C>T	ENSP00000339209:p.Asp35Asn	NA	A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	37	CCDS44282.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.854590	0.00558	0.001042	0.0	ENSG00000143322	ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405	T;T;T;T	0.73897	-0.75;-0.79;-0.77;-0.75	5.34	-6.4	0.01944	.	.	.	.	.	T	0.50956	0.1646	.	.	.	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.04013	0.001;0.0;0.0;0.001;0.0;0.001	T	0.40997	-0.9533	8	0.14252	T	0.57	.	10.5645	0.45165	0.0:0.1763:0.1081:0.7155	.	35;35;35;35;35;35	P42684-4;P42684-9;P42684-2;P42684-3;D1MPS6;P42684-10	.;.;.;.;.;.	N	35	ENSP00000386152:D35N;ENSP00000339209:D35N;ENSP00000423578:D35N;ENSP00000426831:D35N	ENSP00000339209:D35N	D	-	1	0	ABL2	177378700	0.021000	0.18746	0.000000	0.03702	0.038000	0.13279	-0.714000	0.05002	-1.094000	0.03054	-0.812000	0.03155	GAC	ABL2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085175.3		-	ENST00000344730.3	Missense_Mutation	SNP	1 : 179112077 - 179112077 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	229	39
SAMD11	148398	broad.mit.edu	37	1	879470	879470	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:879470G>T	ENST00000342066.3	+	14	2066	c.1983G>T	c.(1981-1983)aaG>aaT	p.K661N		NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	661						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CTTCACCCAAGCAGGAGAATG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	63	60			NA	NA	1		NA											NA				879470		2203	4300	6503	SO:0001583	missense			BC024295	CCDS2.2	1p36.33	2013-01-10			ENSG00000187634	ENSG00000187634	148398	148398		Sterile alpha motif (SAM) domain containing	28706	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152486	NM_152486	NA	Approved	MGC45873	uc001abw.1	Q96NU1	OTTHUMG00000040719	ENST00000342066.3:c.1983G>T	1.37:g.879470G>T	ENSP00000342313:p.Lys661Asn	NA	A2AA76|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59	37	CCDS2.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.12|15.12	2.737742|2.737742	0.49045|0.49045	.|.	.|.	ENSG00000187634|ENSG00000187634	ENST00000342066|ENST00000341065;ENST00000455979	.|.	.|.	.|.	5.05|5.05	-2.44|-2.44	0.06502|0.06502	.|.	0.060271|.	0.64402|.	D|.	0.000004|.	T|T	0.65974|0.65974	0.2743|0.2743	M|M	0.66939|0.66939	2.045|2.045	0.51482|0.51482	D|D	0.99992|0.99992	D;D|.	0.63046|.	0.992;0.986|.	P;P|.	0.50659|.	0.647;0.541|.	T|T	0.65240|0.65240	-0.6216|-0.6216	9|5	0.87932|.	D|.	0|.	-16.797|-16.797	11.726|11.726	0.51710|0.51710	0.4417:0.0:0.5583:0.0|0.4417:0.0:0.5583:0.0	.|.	645;661|.	Q96NU1-1;Q96NU1|.	.;SAM11_HUMAN|.	N|I	661|569;521	.|.	ENSP00000342313:K661N|.	K|S	+|+	3|2	2|0	SAMD11|SAMD11	869333|869333	1.000000|1.000000	0.71417|0.71417	0.218000|0.218000	0.23776|0.23776	0.500000|0.500000	0.33767|0.33767	1.943000|1.943000	0.40253|0.40253	-0.315000|-0.315000	0.08703|0.08703	-0.300000|-0.300000	0.09419|0.09419	AAG|AGC	SAMD11-010	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276866.2		+	ENST00000342066.3	Missense_Mutation	SNP	1 : 879470 - 879470 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	665	121
CES5A	221223	broad.mit.edu	37	16	55905650	55905650	+	Missense_Mutation	SNP	G	G	T	rs77612013		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55905650G>T	ENST00000521992.1	-	4	536	c.391C>A	c.(391-393)Ctc>Atc	p.L131I	CES5A_ENST00000290567.9_Missense_Mutation_p.L102I|CES5A_ENST00000319165.9_Missense_Mutation_p.L102I|CES5A_ENST00000520435.1_Missense_Mutation_p.L102I|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000518005.1_5'UTR	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	102						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TGATCTAAGAGCAGCCACTCT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	54	57			NA	NA	16		NA											NA				55905650		2198	4300	6498	SO:0001583	missense			AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	221223	221223	3.1.1.1	Carboxylesterases	26459	protein-coding gene	gene with protein product			carboxylesterase 7	CES7	NA	20931200	Standard	NM_145024	NM_145024	NA	Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000521992.1:c.391C>A	16.37:g.55905650G>T	ENSP00000428864:p.Leu131Ile	NA	B7ZLB6|Q8NBC8|Q96DN9	37	CCDS54012.1	.	.	.	.	.	.	.	.	.	.	G	9.584	1.124275	0.20959	.	.	ENSG00000159398	ENST00000521992;ENST00000319165;ENST00000290567;ENST00000520435	T;T;T;T	0.08458	3.09;3.09;3.09;3.1	4.89	-9.78	0.00496	Carboxylesterase, type B (1);	1.982360	0.02508	N	0.091206	T	0.04497	0.0123	L	0.29908	0.895	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.12156	0.007;0.004	T	0.33111	-0.9881	10	0.21014	T	0.42	.	1.3674	0.02204	0.4088:0.2575:0.15:0.1837	.	102;102	Q6NT32;Q6NT32-2	EST5A_HUMAN;.	I	131;102;102;102	ENSP00000428864:L131I;ENSP00000324271:L102I;ENSP00000290567:L102I;ENSP00000428887:L102I	ENSP00000290567:L102I	L	-	1	0	CES5A	54463151	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.344000	0.02639	-3.014000	0.00272	-0.768000	0.03414	CTC	CES5A-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381289.1		-	ENST00000521992.1	Missense_Mutation	SNP	16 : 55905650 - 55905650 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	218	19
ADD2	119	broad.mit.edu	37	2	70933444	70933444	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70933444G>A	ENST00000264436.4	-	3	541	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C	ADD2_ENST00000407644.2_Missense_Mutation_p.R33C|ADD2_ENST00000430656.1_Missense_Mutation_p.R49C|ADD2_ENST00000413157.2_Missense_Mutation_p.R33C|ADD2_ENST00000355733.3_Missense_Mutation_p.R33C	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	NA					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TTGCGAAGGCGCATGTACTCG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	58	57			NA	NA	2		NA											NA				70933444		2203	4300	6503	SO:0001583	missense			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340	119	119			244	protein-coding gene	gene with protein product		102681			NA	1840603	Standard	NM_001617	NM_001617	NA	Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.97C>T	2.37:g.70933444G>A	ENSP00000264436:p.Arg33Cys	NA	A8K4P2|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	37	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.706310	0.68615	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000522886;ENST00000264439;ENST00000356565;ENST00000517596;ENST00000413157;ENST00000430656;ENST00000415348;ENST00000425976	T;T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43	4.89	3.05	0.35203	.	0.070702	0.56097	D	0.000029	T	0.54382	0.1855	M	0.82630	2.6	0.45150	D	0.998168	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.999;0.996	D;D;P;D;P;P	0.65684	0.937;0.928;0.854;0.937;0.902;0.653	T	0.60490	-0.7253	10	0.87932	D	0	-10.9604	12.008	0.53270	0.0:0.0:0.6865:0.3135	.	49;33;33;33;33;33	B4DM17;P35612-4;E9PAN1;Q05DK5;P35612;P35612-3	.;.;.;.;ADDB_HUMAN;.	C	33;33;33;33;33;33;33;33;33;49;33;33	ENSP00000264436:R33C;ENSP00000384677:R33C;ENSP00000347972:R33C;ENSP00000430243:R33C;ENSP00000388072:R33C;ENSP00000398112:R49C;ENSP00000412357:R33C;ENSP00000412681:R33C	ENSP00000264436:R33C	R	-	1	0	ADD2	70786952	1.000000	0.71417	0.918000	0.36340	0.548000	0.35241	4.820000	0.62671	0.735000	0.32537	0.591000	0.81541	CGC	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251918.4		-	ENST00000264436.4	Missense_Mutation	SNP	2 : 70933444 - 70933444 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	367	147
NELL2	4753	broad.mit.edu	37	12	45173747	45173747	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:45173747C>T	ENST00000429094.2	-	4	898	c.394G>A	c.(394-396)Ggc>Agc	p.G132S	NELL2_ENST00000551601.1_Missense_Mutation_p.G131S|NELL2_ENST00000437801.2_Missense_Mutation_p.G182S|NELL2_ENST00000395487.2_Missense_Mutation_p.G131S|NELL2_ENST00000452445.2_Missense_Mutation_p.G132S|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000549027.1_Missense_Mutation_p.G131S|NELL2_ENST00000333837.4_Missense_Mutation_p.G155S	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	132	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CGGTGACTGCCTGAGCGGTAA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	153	159			NA	NA	12		NA											NA				45173747		2203	4300	6503	SO:0001583	missense			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613	4753	4753			7751	protein-coding gene	gene with protein product		602320	nel (chicken)-like 2		NA	19249368	Standard	NM_006159	NM_006159	NA	Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.394G>A	12.37:g.45173747C>T	ENSP00000390680:p.Gly132Ser	NA		37	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302698	0.60195	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000552993;ENST00000553120	D;D;D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.5	3.67	0.42095	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.331335	0.34676	N	0.003768	T	0.70002	0.3174	N	0.17082	0.46	0.43740	D	0.996233	B;B;B;B;B;B	0.17038	0.016;0.02;0.016;0.006;0.005;0.011	B;B;B;B;B;B	0.23018	0.043;0.023;0.017;0.029;0.018;0.014	T	0.63541	-0.6614	10	0.25751	T	0.34	-15.9435	12.2547	0.54617	0.0:0.8608:0.0:0.1392	.	155;182;131;132;132;131	B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2	.;.;.;.;NELL2_HUMAN;.	S	131;132;131;132;131;155;182;131;132;129	ENSP00000378866:G131S;ENSP00000390680:G132S;ENSP00000449332:G131S;ENSP00000394612:G132S;ENSP00000447927:G131S;ENSP00000327988:G155S;ENSP00000416341:G182S;ENSP00000447085:G132S;ENSP00000447384:G129S	ENSP00000327988:G155S	G	-	1	0	NELL2	43460014	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	2.002000	0.40835	1.327000	0.45338	0.655000	0.94253	GGC	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404180.1		-	ENST00000429094.2	Missense_Mutation	SNP	12 : 45173747 - 45173747 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	734	131
ZNF211	10520	broad.mit.edu	37	19	58152484	58152484	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58152484G>A	ENST00000299871.5	+	5	956	c.825G>A	c.(823-825)gaG>gaA	p.E275E	ZNF211_ENST00000240731.4_Silent_p.E223E|ZNF211_ENST00000347302.3_Silent_p.E210E|ZNF211_ENST00000254182.7_Silent_p.E201E|ZNF211_ENST00000541801.1_Silent_p.E201E|ZNF211_ENST00000420680.1_Silent_p.E214E|ZNF211_ENST00000391703.3_Silent_p.E149E|ZNF211_ENST00000544273.1_Silent_p.E222E	NM_001265597.1	NP_001252526.1	Q13398	ZN211_HUMAN	zinc finger protein 211	210						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAACAGGGGAGAAGCCAAATA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	53	53			NA	NA	19		NA											NA				58152484		2203	4300	6503	SO:0001819	synonymous_variant			U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417	NA	10520		Zinc fingers, C2H2-type, -	13003	protein-coding gene	gene with protein product		601856			NA	7633419, 9096115	Standard		NM_006385	NA	Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000299871.5:c.825G>A	19.37:g.58152484G>A		NA	B4DH10|B4DLC9|B4E3C9|B9ZVS7|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	37	CCDS58686.1	.	.	.	.	.	.	.	.	.	.	G	9.205	1.029395	0.19512	.	.	ENSG00000121417	ENST00000407202	T	0.19806	2.12	3.24	1.01	0.19927	.	.	.	.	.	T	0.20210	0.0486	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.22941	-1.0202	6	0.54805	T	0.06	.	5.2711	0.15624	0.1047:0.0:0.5413:0.354	.	.	.	.	K	214	ENSP00000384436:E214K	ENSP00000384436:E214K	E	+	1	0	ZNF211	62844296	0.000000	0.05858	0.006000	0.13384	0.702000	0.40608	0.297000	0.19101	0.371000	0.24564	0.591000	0.81541	GAA	ZNF211-005	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397506.1		+	ENST00000299871.5	Silent	SNP	19 : 58152484 - 58152484 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	303	60
PCDHA2	56146	broad.mit.edu	37	5	140175828	140175828	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140175828G>A	ENST00000520672.2	+	1	1385	c.1279G>A	c.(1279-1281)Gca>Aca	p.A427T	PCDHA2_ENST00000526136.1_Missense_Mutation_p.A427T|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A427T|PCDHA1_ENST00000394633.3_Intron	NM_031496.1	NP_113684.1			protocadherin alpha 2	NA										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGTGACCGCACGGGACGG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	96	98			NA	NA	5		NA											NA				140175828		2203	4300	6503	SO:0001583	missense			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969	56146	56146		Cadherins / Protocadherins : Clustered	8668	other	complex locus constituent	KIAA0345-like 12	606308			NA	10380929	Standard	NM_018905	NM_018905	NA	Approved			Q9Y5H9		ENST00000520672.2:c.1279G>A	5.37:g.140175828G>A	ENSP00000430584:p.Ala427Thr	NA		37		.	.	.	.	.	.	.	.	.	.	g	18.42	3.620473	0.66787	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.71341	-0.56;-0.56;-0.56	3.98	3.98	0.46160	Cadherin (5);Cadherin-like (1);	0.000000	0.39475	U	0.001346	D	0.89441	0.6716	H	0.98525	4.255	0.44247	D	0.997095	D;D;D	0.76494	0.993;0.996;0.999	P;P;D	0.63793	0.867;0.884;0.918	D	0.94032	0.7302	10	0.72032	D	0.01	.	16.4215	0.83760	0.0:0.0:1.0:0.0	.	427;427;427	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	T	427	ENSP00000430584:A427T;ENSP00000367372:A427T;ENSP00000431748:A427T	ENSP00000367372:A427T	A	+	1	0	PCDHA2	140156012	1.000000	0.71417	0.094000	0.20943	0.237000	0.25408	9.665000	0.98609	1.920000	0.55613	0.650000	0.86243	GCA	PCDHA2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000374265.2		+	ENST00000520672.2	Missense_Mutation	SNP	5 : 140175828 - 140175828 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	954	189
CELF2	10659	broad.mit.edu	37	10	11363230	11363230	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11363230C>T	ENST00000315874.4	+	11	1389	c.1082C>T	c.(1081-1083)aCc>aTc	p.T361I	CELF2_ENST00000609692.1_Missense_Mutation_p.T359I|CELF2_ENST00000416382.2_Missense_Mutation_p.T379I|CELF2_ENST00000379261.4_Missense_Mutation_p.T379I|CELF2_ENST00000417956.2_Missense_Mutation_p.T359I|CELF2_ENST00000427450.1_Missense_Mutation_p.T361I|CELF2_ENST00000399850.3_Missense_Mutation_p.T361I|CELF2_ENST00000354440.2_Missense_Mutation_p.T361I|CELF2_ENST00000542579.1_Missense_Mutation_p.T392I|CELF2_ENST00000608830.1_Missense_Mutation_p.T359I|CELF2_ENST00000354897.3_Missense_Mutation_p.T373I|CELF2_ENST00000450189.1_Missense_Mutation_p.T392I|CELF2_ENST00000537122.1_Missense_Mutation_p.T274I	NM_001025076.2|NM_001083591.1	NP_001020247.1|NP_001077060.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	NA	Ala-rich.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						ACGGCTGGCACCATGGACGCC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	109	110			NA	NA	10		NA											NA				11363230		2076	4217	6293	SO:0001583	missense			U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740	10659	10659		RNA binding motif (RRM) containing	2550	protein-coding gene	gene with protein product		602538	CUG triplet repeat, RNA-binding protein 2, CUG triplet repeat, RNA binding protein 2	CUGBP2	NA	7869393, 9887331	Standard		NM_006561	NA	Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000315874.4:c.1082C>T	10.37:g.11363230C>T	ENSP00000315328:p.Thr361Ile	NA	B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	37	CCDS41488.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088708	0.76756	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450;ENST00000537122;ENST00000538632	T;T;T;T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.33	5.33	0.75918	.	0.150107	0.64402	D	0.000016	T	0.65048	0.2654	L	0.46157	1.445	0.58432	D	0.999999	P;B;B;P;P	0.37330	0.574;0.167;0.165;0.584;0.59	B;B;B;B;B	0.43478	0.421;0.063;0.029;0.239;0.239	T	0.66244	-0.5972	10	0.56958	D	0.05	-8.2134	19.2874	0.94084	0.0:1.0:0.0:0.0	.	367;380;392;392;379	B4DDE7;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;CELF2_HUMAN	I	379;379;392;392;361;359;361;361;369;361;274;185	ENSP00000368563:T379I;ENSP00000406451:T379I;ENSP00000389951:T392I;ENSP00000443926:T392I;ENSP00000382743:T361I;ENSP00000404834:T359I;ENSP00000315328:T361I;ENSP00000346426:T361I;ENSP00000388530:T361I;ENSP00000438884:T274I	ENSP00000315328:T361I	T	+	2	0	CELF2	11403236	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.651000	0.83577	2.789000	0.95967	0.558000	0.71614	ACC	CELF2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046758.2		+	ENST00000315874.4	Missense_Mutation	SNP	10 : 11363230 - 11363230 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	547	84
HRC	3270	broad.mit.edu	37	19	49656971	49656971	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49656971G>A	ENST00000252825.4	-	1	1710	c.1524C>T	c.(1522-1524)ggC>ggT	p.G508G	HRC_ENST00000595625.1_Silent_p.G508G	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	508					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CATGATGGGTGCCTTTCTCTC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(37;75 1097 24567 25669 30645)							NA				0													107	86	93			NA	NA	19		NA											NA				49656971		2203	4300	6503	SO:0001819	synonymous_variant				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528	3270	3270			5178	protein-coding gene	gene with protein product		142705	histidine-rich calcium-binding protein		NA	2037293	Standard	NM_002152	XR_243928	NA	Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1524C>T	19.37:g.49656971G>A		NA	Q504Y6	37	CCDS12759.1																																																																																			HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465649.1		-	ENST00000252825.4	Silent	SNP	19 : 49656971 - 49656971 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	303	61
KIAA1462	57608	broad.mit.edu	37	10	30316752	30316752	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30316752C>T	ENST00000375377.1	-	3	2426	c.2325G>A	c.(2323-2325)ccG>ccA	p.P775P		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	775										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTTTTGGCGTCGGTGCCTGGT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	58	57			NA	NA	10		NA											NA				30316752		2081	4202	6283	SO:0001819	synonymous_variant			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757	57608	57608			29283	protein-coding gene	gene with protein product	junctional protein associated with coronary artery disease	614398			NA	10819331, 21884682	Standard	NM_020848	NM_020848	NA	Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2325G>A	10.37:g.30316752C>T		NA	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	37	CCDS41500.1																																																																																			KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047409.1		-	ENST00000375377.1	Silent	SNP	10 : 30316752 - 30316752 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	588	109
CDH19	28513	broad.mit.edu	37	18	64172320	64172320	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:64172320C>T	ENST00000540086.1	-	0	1924				CDH19_ENST00000262150.2_Missense_Mutation_p.R683K	NM_001271028.1	NP_001257957.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	NA					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CAAAGACTGCCTGTATAGGCT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	158	160			NA	NA	18		NA											NA				64172320		2203	4300	6503	SO:0001624	3_prime_UTR_variant			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991	28513	28513		Cadherins / Major cadherins	1758	protein-coding gene	gene with protein product		603016			NA	10995570	Standard	NM_021153	NM_021153	NA	Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.*205G>A	18.37:g.64172320C>T		NA		37	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947956	0.73787	.	.	ENSG00000071991	ENST00000262150	T	0.76448	-1.02	5.19	5.19	0.71726	Cadherin, cytoplasmic domain (1);	0.094394	0.64402	D	0.000001	D	0.85044	0.5607	M	0.63428	1.95	0.28559	N	0.911229	D	0.76494	0.999	D	0.74023	0.982	T	0.80106	-0.1521	10	0.66056	D	0.02	.	12.45	0.55671	0.0:0.9229:0.0:0.0771	.	683	Q9H159	CAD19_HUMAN	K	683	ENSP00000262150:R683K	ENSP00000262150:R683K	R	-	2	0	CDH19	62323300	0.002000	0.14202	0.889000	0.34880	0.727000	0.41649	1.519000	0.35888	2.569000	0.86673	0.655000	0.94253	AGG	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442285.1		-	ENST00000540086.1	3'UTR	SNP	18 : 64172320 - 64172320 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	834	166
ATR	545	broad.mit.edu	37	3	142269047	142269047	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142269047C>A	ENST00000350721.4	-	14	3024	c.2903G>T	c.(2902-2904)aGa>aTa	p.R968I	ATR_ENST00000383101.3_Missense_Mutation_p.R904I	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	968					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AGCCATTTCTCTCTGGTGAGC	0.403		NA						Other conserved DNA damage response genes						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	139	143			NA	NA	3		NA											NA				142269047		2203	4300	6503	SO:0001583	missense			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054	545	545			882	protein-coding gene	gene with protein product	MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)	601215	ataxia telangiectasia and Rad3 related		NA	8978690, 8610130	Standard	NM_001184	NM_001184	NA	Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.2903G>T	3.37:g.142269047C>A	ENSP00000343741:p.Arg968Ile	NA	Q59HB2|Q7KYL3|Q93051|Q9BXK4	37	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.571103	0.65765	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.70282	-0.47;-0.47	5.47	4.41	0.53225	Armadillo-like helical (1);Armadillo-type fold (1);	0.052909	0.85682	D	0.000000	T	0.53302	0.1788	N	0.24115	0.695	0.80722	D	1	P	0.39216	0.664	B	0.34242	0.178	T	0.53027	-0.8496	10	0.17832	T	0.49	-18.6483	15.1389	0.72595	0.0:0.9203:0.0:0.0797	.	968	Q13535	ATR_HUMAN	I	968;904	ENSP00000343741:R968I;ENSP00000372581:R904I	ENSP00000343741:R968I	R	-	2	0	ATR	143751737	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.959000	0.70339	2.561000	0.86390	0.591000	0.81541	AGA	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353995.2		-	ENST00000350721.4	Missense_Mutation	SNP	3 : 142269047 - 142269047 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	488	81
KIAA1598	57698	broad.mit.edu	37	10	118738812	118738812	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118738812G>A	ENST00000260777.10	-	2	351	c.66C>T	c.(64-66)ggC>ggT	p.G22G	KIAA1598_ENST00000355371.4_Silent_p.G22G|KIAA1598_ENST00000392901.4_5'UTR|KIAA1598_ENST00000392903.2_Silent_p.G22G	NM_018330.6	NP_060800.2	A0MZ66	SHOT1_HUMAN	KIAA1598	22					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		CTTCATATTCGCCTATTGCTA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	109	111			NA	NA	10		NA											NA				118738812		2203	4300	6503	SO:0001819	synonymous_variant			BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164	57698	57698			29319	protein-coding gene	gene with protein product		611171			NA	10997877, 17030985	Standard	NM_018330	NM_001127211	NA	Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000260777.10:c.66C>T	10.37:g.118738812G>A		NA	A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	37	CCDS31293.1																																																																																			KIAA1598-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050553.1		-	ENST00000260777.10	Silent	SNP	10 : 118738812 - 118738812 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	46
ZNF195	7748	broad.mit.edu	37	11	3381489	3381489	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3381489C>T	ENST00000354599.6	-	4	637	c.533G>A	c.(532-534)gGc>gAc	p.G178D	ZNF195_ENST00000399602.4_Missense_Mutation_p.G250D|ZNF195_ENST00000429541.2_Missense_Mutation_p.G182D|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000526601.1_Missense_Mutation_p.G231D|ZNF195_ENST00000005082.9_Missense_Mutation_p.G227D|ZNF195_ENST00000343338.7_Missense_Mutation_p.G182D|ZNF195_ENST00000438262.2_3'UTR	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	250	Spacer.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		AAAGGATTTGCCACATTCTTG	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	54	55			NA	NA	11		NA											NA				3381489		1934	4156	6090	SO:0001583	missense				CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801	NA	7748		Zinc fingers, C2H2-type, -	12986	protein-coding gene	gene with protein product		602187			NA	9344677	Standard		NM_001130520	NA	Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000354599.6:c.533G>A	11.37:g.3381489C>T	ENSP00000346613:p.Gly178Asp	NA	A8K234|B3KTK2|B4DEL0|Q0VAJ6|Q658N8|Q6ZNA9	37	CCDS41604.1	.	.	.	.	.	.	.	.	.	.	c	11.46	1.646014	0.29246	.	.	ENSG00000005801	ENST00000354599;ENST00000399602;ENST00000343338;ENST00000429541;ENST00000005082;ENST00000526601;ENST00000528410	T;T;T;T;T;T;T	0.34472	2.04;2.04;2.04;2.04;2.04;2.04;1.36	0.693	-0.389	0.12455	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49064	0.1535	M	0.64630	1.985	0.26048	N	0.981527	D;P;D;B;D;B	0.89917	0.997;0.745;1.0;0.445;1.0;0.445	D;B;D;B;D;B	0.87578	0.994;0.095;0.996;0.058;0.998;0.058	T	0.35001	-0.9806	9	0.62326	D	0.03	.	3.7929	0.08728	0.0:0.4377:0.0:0.5623	.	231;109;227;182;250;178	O14628-6;Q59EZ7;O14628-5;O14628-7;O14628;O14628-4	.;.;.;.;ZN195_HUMAN;.	D	178;250;182;182;227;231;205	ENSP00000346613:G178D;ENSP00000382511:G250D;ENSP00000344483:G182D;ENSP00000387998:G182D;ENSP00000005082:G227D;ENSP00000435828:G231D;ENSP00000431937:G205D	ENSP00000005082:G227D	G	-	2	0	ZNF195	3338065	0.810000	0.29049	0.015000	0.15790	0.768000	0.43524	0.518000	0.22847	-0.180000	0.10637	0.313000	0.20887	GGC	ZNF195-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032322.2		-	ENST00000354599.6	Missense_Mutation	SNP	11 : 3381489 - 3381489 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	336	56
C8A	731	broad.mit.edu	37	1	57383318	57383318	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:57383318T>G	ENST00000361249.3	+	11	1780	c.1684T>G	c.(1684-1686)Tgt>Ggt	p.C562G		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	562	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GAGAAGAGAGTGTGACAATCC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	67	67			NA	NA	1		NA											NA				57383318		2203	4300	6503	SO:0001583	missense			M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131	731	731		Complement system	1352	protein-coding gene	gene with protein product		120950			NA		Standard	NM_000562	NM_000562	NA	Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1684T>G	1.37:g.57383318T>G	ENSP00000354458:p.Cys562Gly	NA	A2RUI4|A2RUI5|Q13668|Q9H130	37	CCDS606.1	.	.	.	.	.	.	.	.	.	.	T	18.09	3.547329	0.65311	.	.	ENSG00000157131	ENST00000361249	T	0.25912	1.77	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.69178	0.3082	H	0.99600	4.65	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.82692	-0.0331	10	0.87932	D	0	-16.2378	13.1014	0.59222	0.0:0.0:0.0:1.0	.	562	P07357	CO8A_HUMAN	G	562	ENSP00000354458:C562G	ENSP00000354458:C562G	C	+	1	0	C8A	57155906	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	5.767000	0.68850	2.012000	0.59069	0.460000	0.39030	TGT	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022890.1		+	ENST00000361249.3	Missense_Mutation	SNP	1 : 57383318 - 57383318 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	299	23
HIVEP3	59269	broad.mit.edu	37	1	42048565	42048565	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:42048565C>T	ENST00000372584.1	-	3	2918	c.1904G>A	c.(1903-1905)gGt>gAt	p.G635D	HIVEP3_ENST00000372583.1_Missense_Mutation_p.G635D|HIVEP3_ENST00000429157.2_Missense_Mutation_p.G635D|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G635D	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	635	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGTTTTCAAACCCTTCTTGGT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	134	135			NA	NA	1		NA											NA				42048565		2203	4300	6503	SO:0001583	missense			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124	59269	59269		Zinc fingers, C2H2-type	13561	protein-coding gene	gene with protein product	kappabinding protein-1	606649	human immunodeficiency virus type I enhancer-binding protein 3		NA	11161801	Standard	NM_024503	NR_038260	NA	Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372584.1:c.1904G>A	1.37:g.42048565C>T	ENSP00000361665:p.Gly635Asp	NA	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	37	CCDS44124.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884831	0.51908	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	4.47	4.47	0.54385	.	0.000000	0.53938	D	0.000057	T	0.37517	0.1006	L	0.36672	1.1	0.41696	D	0.989374	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.96	T	0.05386	-1.0888	10	0.37606	T	0.19	-12.2882	12.0853	0.53693	0.172:0.828:0.0:0.0	.	635;635	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	D	635	ENSP00000361665:G635D;ENSP00000361664:G635D;ENSP00000247584:G635D;ENSP00000410828:G635D	ENSP00000247584:G635D	G	-	2	0	HIVEP3	41821152	0.998000	0.40836	0.873000	0.34254	0.968000	0.65278	4.299000	0.59073	2.326000	0.78906	0.555000	0.69702	GGT	HIVEP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000016977.1		-	ENST00000372584.1	Missense_Mutation	SNP	1 : 42048565 - 42048565 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	752	126
FREM2	341640	broad.mit.edu	37	13	39262809	39262809	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39262809G>A	ENST00000280481.7	+	1	1544	c.1328G>A	c.(1327-1329)cGg>cAg	p.R443Q		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	443					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.R443Q(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GTGGTCACCCGGAATACCGGT	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)	large_intestine(1)											63	71	68			NA	NA	13		NA											NA				39262809		2203	4300	6503	SO:0001583	missense			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893	341640	341640			25396	protein-coding gene	gene with protein product		608945			NA	15345741	Standard	NM_207361	NM_207361	NA	Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1328G>A	13.37:g.39262809G>A	ENSP00000280481:p.Arg443Gln	NA	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667568	0.67814	.	.	ENSG00000150893	ENST00000280481	T	0.19532	2.14	5.76	5.76	0.90799	.	0.055642	0.64402	D	0.000002	T	0.22166	0.0534	L	0.39633	1.23	0.58432	D	0.999996	D	0.58620	0.983	P	0.45232	0.474	T	0.00745	-1.1584	10	0.30078	T	0.28	.	15.5538	0.76173	0.0:0.0:0.8615:0.1385	.	443	Q5SZK8	FREM2_HUMAN	Q	443	ENSP00000280481:R443Q	ENSP00000280481:R443Q	R	+	2	0	FREM2	38160809	0.828000	0.29307	0.999000	0.59377	0.971000	0.66376	3.651000	0.54431	2.724000	0.93272	0.561000	0.74099	CGG	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044599.2		+	ENST00000280481.7	Missense_Mutation	SNP	13 : 39262809 - 39262809 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	488	86
BBS10	79738	broad.mit.edu	37	12	76742101	76742101	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76742101G>A	ENST00000393262.3	-	1	121	c.38C>T	c.(37-39)gCg>gTg	p.A13V		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	13					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						CTGCAACGCCGCCTTCACAGA	0.612		NA							Bardet-Biedl syndrome		OREG0022001	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	14	14			NA	NA	12		NA											NA				76742101		2018	4170	6188	SO:0001583	missense	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941	79738	79738		Heat Shock Proteins / Chaperonins	26291	protein-coding gene	gene with protein product		610148	chromosome 12 open reading frame 58	C12orf58	NA	16582908	Standard	NM_024685	NM_024685	NA	Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.38C>T	12.37:g.76742101G>A	ENSP00000376946:p.Ala13Val	1170	Q96CW2|Q9H5D2	37	CCDS9014.2	.	.	.	.	.	.	.	.	.	.	G	13.34	2.206551	0.39003	.	.	ENSG00000179941	ENST00000393262	D	0.90004	-2.6	5.23	-2.25	0.06888	.	0.695765	0.11678	U	0.540041	T	0.72700	0.3493	N	0.12746	0.255	0.09310	N	1	B	0.15719	0.014	B	0.04013	0.001	T	0.57516	-0.7798	10	0.24483	T	0.36	0.1479	4.4878	0.11799	0.4616:0.0:0.2864:0.252	.	13	Q8TAM1	BBS10_HUMAN	V	13	ENSP00000376946:A13V	ENSP00000376946:A13V	A	-	2	0	BBS10	75266232	0.000000	0.05858	0.059000	0.19551	0.658000	0.38924	-2.093000	0.01353	-0.365000	0.08076	0.561000	0.74099	GCG	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000303983.2		-	ENST00000393262.3	Missense_Mutation	SNP	12 : 76742101 - 76742101 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	95	18
RADIL	55698	broad.mit.edu	37	7	4874821	4874821	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4874821C>T	ENST00000399583.3	-	4	1020	c.833G>A	c.(832-834)cGg>cAg	p.R278Q	RADIL_ENST00000536091.1_Missense_Mutation_p.R278Q|RADIL_ENST00000538469.1_Missense_Mutation_p.R38Q	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	278					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GGAGGGGGTCCGCTGGCCCAC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	26	24			NA	NA	7		NA											NA				4874821		2174	4248	6422	SO:0001583	missense			AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927	55698	55698			22226	protein-coding gene	gene with protein product		611491			NA	16051602, 17704304	Standard	NM_018059	NM_018059	NA	Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.833G>A	7.37:g.4874821C>T	ENSP00000382492:p.Arg278Gln	NA	A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	37	CCDS43544.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	11.94|11.94	1.789670|1.789670	0.31685|0.31685	.|.	.|.	ENSG00000157927|ENSG00000157927	ENST00000544486|ENST00000399583;ENST00000536091;ENST00000538469	.|T;T;T	.|0.06768	.|3.26;3.26;3.26	4.75|4.75	3.87|3.87	0.44632|0.44632	.|Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	.|0.678925	.|0.14484	.|N	.|0.316794	T|T	0.14313|0.14313	0.0346|0.0346	L|L	0.60455|0.60455	1.87|1.87	0.31687|0.31687	N|N	0.642347|0.642347	.|D	.|0.63046	.|0.992	.|P	.|0.50570	.|0.644	T|T	0.07731|0.07731	-1.0757|-1.0757	6|10	0.59425|0.27082	D|T	0.04|0.32	-7.1694|-7.1694	10.5807|10.5807	0.45255|0.45255	0.0:0.9103:0.0:0.0897|0.0:0.9103:0.0:0.0897	.|.	.|278	.|Q96JH8	.|RADIL_HUMAN	R|Q	13|278;278;38	.|ENSP00000382492:R278Q;ENSP00000442533:R278Q;ENSP00000442966:R38Q	ENSP00000437686:G13R|ENSP00000382492:R278Q	G|R	-|-	1|2	0|0	RADIL|RADIL	4841347|4841347	1.000000|1.000000	0.71417|0.71417	0.840000|0.840000	0.33206|0.33206	0.172000|0.172000	0.22775|0.22775	3.422000|3.422000	0.52749|0.52749	1.017000|1.017000	0.39495|0.39495	-0.119000|-0.119000	0.15052|0.15052	GGA|CGG	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323769.2		-	ENST00000399583.3	Missense_Mutation	SNP	7 : 4874821 - 4874821 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	149	22
RREB1	6239	broad.mit.edu	37	6	7229879	7229879	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7229879G>T	ENST00000379938.2	+	10	2084	c.1547G>T	c.(1546-1548)cGg>cTg	p.R516L	RREB1_ENST00000379933.3_Missense_Mutation_p.R516L|RREB1_ENST00000334984.6_Missense_Mutation_p.R516L|RREB1_ENST00000349384.6_Missense_Mutation_p.R516L	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	516	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GTCACACCACGGACGGTGGTG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	89	84			NA	NA	6		NA											NA				7229879		2203	4299	6502	SO:0001583	missense			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782	6239	6239		Zinc fingers, C2H2-type	10449	protein-coding gene	gene with protein product	hindsight homolog (drosophila)	602209			NA	9367691, 18394891	Standard		NM_001003698	NA	Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000379938.2:c.1547G>T	6.37:g.7229879G>T	ENSP00000369270:p.Arg516Leu	NA	A2RRF5|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	37	CCDS34335.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.782722	0.70222	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.14144	2.58;2.53;2.58;2.55;2.78	5.67	5.67	0.87782	.	0.000000	0.56097	D	0.000025	T	0.28532	0.0706	M	0.69823	2.125	0.50171	D	0.999857	D;D;D	0.71674	0.992;0.998;0.997	P;P;P	0.62298	0.882;0.9;0.851	T	0.00998	-1.1486	10	0.52906	T	0.07	-31.7759	19.7629	0.96329	0.0:0.0:1.0:0.0	.	516;516;516	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	L	516	ENSP00000369265:R516L;ENSP00000369270:R516L;ENSP00000305560:R516L;ENSP00000335574:R516L;ENSP00000419511:R516L	ENSP00000335574:R516L	R	+	2	0	RREB1	7174878	1.000000	0.71417	0.101000	0.21167	0.862000	0.49288	9.302000	0.96175	2.666000	0.90696	0.561000	0.74099	CGG	RREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039774.3		+	ENST00000379938.2	Missense_Mutation	SNP	6 : 7229879 - 7229879 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1481	71
GPR112	139378	broad.mit.edu	37	X	135429074	135429074	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135429074C>T	ENST00000394143.1	+	6	3500	c.3209C>T	c.(3208-3210)aCt>aTt	p.T1070I	GPR112_ENST00000412101.1_Missense_Mutation_p.T865I|GPR112_ENST00000287534.4_Missense_Mutation_p.T1007I|GPR112_ENST00000394141.1_Missense_Mutation_p.T865I|GPR112_ENST00000370652.1_Missense_Mutation_p.T1070I	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1070					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T1070N(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTGGATCAGACTGCTTCCACA	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)	endometrium(1)											270	249	256			NA	NA	X		NA											NA				135429074		2203	4300	6503	SO:0001583	missense			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920	139378	139378		-, GPCR / Class B : Orphans	18992	protein-coding gene	gene with protein product					NA	12435584	Standard		XM_005262367	NA	Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3209C>T	X.37:g.135429074C>T	ENSP00000377699:p.Thr1070Ile	NA	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.313932	0.40996	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.39056	1.14;1.14;1.1;1.21;1.1	1.87	0.972	0.19704	.	.	.	.	.	T	0.47414	0.1444	L	0.32530	0.975	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.78314	0.991;0.991;0.981	T	0.27739	-1.0065	9	0.87932	D	0	.	5.7438	0.18108	0.0:0.6663:0.3337:0.0	.	1007;865;1070	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	I	1070;1070;865;1007;865	ENSP00000377699:T1070I;ENSP00000359686:T1070I;ENSP00000416526:T865I;ENSP00000287534:T1007I;ENSP00000377697:T865I	ENSP00000287534:T1007I	T	+	2	0	GPR112	135256740	0.026000	0.19158	0.001000	0.08648	0.426000	0.31534	0.101000	0.15251	0.241000	0.21283	0.436000	0.28706	ACT	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286639.1		+	ENST00000394143.1	Missense_Mutation	SNP	X : 135429074 - 135429074 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1231	344
ABCE1	6059	broad.mit.edu	37	4	146044705	146044705	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146044705C>T	ENST00000296577.4	+	16	2108	c.1593C>T	c.(1591-1593)cgC>cgT	p.R531R	OTUD4_ENST00000455611.2_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	531	ABC transporter 2.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					TAGCGGATCGCGTCATCGTTT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	64	66			NA	NA	4		NA											NA				146044705		2203	4298	6501	SO:0001819	synonymous_variant			X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163	6059	6059		ATP binding cassette transporters / subfamily E	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I	NA	7539425	Standard	NM_002940	NM_002940	NA	Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.1593C>T	4.37:g.146044705C>T		NA	O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	37	CCDS34071.1																																																																																			ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365104.1		+	ENST00000296577.4	Silent	SNP	4 : 146044705 - 146044705 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	180	32
DGKZ	8525	broad.mit.edu	37	11	46399765	46399765	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46399765C>A	ENST00000454345.1	+	27	3049	c.2924C>A	c.(2923-2925)gCt>gAt	p.A975D	DGKZ_ENST00000456247.2_Missense_Mutation_p.A786D|DGKZ_ENST00000343674.6_Missense_Mutation_p.A803D|DGKZ_ENST00000395574.3_Missense_Mutation_p.A753D|DGKZ_ENST00000528615.1_Missense_Mutation_p.A565D|DGKZ_ENST00000543978.1_Missense_Mutation_p.A139D|DGKZ_ENST00000527911.1_Missense_Mutation_p.A787D|DGKZ_ENST00000318201.8_Missense_Mutation_p.A764D|DGKZ_ENST00000532868.2_Missense_Mutation_p.A791D|DGKZ_ENST00000421244.2_Missense_Mutation_p.A787D	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	975					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CAAGGGGATGCTGCACCCCCT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	42	45			NA	NA	11		NA											NA				46399765		2197	4297	6494	SO:0001583	missense			U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	8525	8525	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	diacylglycerol kinase, zeta 104kDa		NA	8626588	Standard	NM_001105540	NM_003646	NA	Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.2924C>A	11.37:g.46399765C>A	ENSP00000412178:p.Ala975Asp	NA	O00542	37	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	C	9.128	1.010579	0.19277	.	.	ENSG00000149091	ENST00000343674;ENST00000528615;ENST00000395574;ENST00000532868;ENST00000543978;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345	T;T;T;T;T;T;T;T;T;T	0.24908	2.37;2.56;2.55;2.6;2.81;3.56;2.37;2.43;2.55;1.83	3.71	2.75	0.32379	.	0.914548	0.09154	U	0.841129	T	0.19525	0.0469	L	0.40543	1.245	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.14438	0.0;0.01;0.001;0.0;0.0;0.0;0.002;0.006;0.003	B;B;B;B;B;B;B;B;B	0.11329	0.001;0.004;0.001;0.001;0.001;0.002;0.005;0.003;0.006	T	0.31861	-0.9928	10	0.13108	T	0.6	.	8.3404	0.32241	0.2347:0.7653:0.0:0.0	.	764;752;730;787;975;786;787;753;803	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.	D	803;565;753;752;139;787;786;787;764;975	ENSP00000343065:A803D;ENSP00000434719:A565D;ENSP00000378941:A753D;ENSP00000436273:A752D;ENSP00000438417:A139D;ENSP00000436291:A787D;ENSP00000395684:A786D;ENSP00000391021:A787D;ENSP00000320340:A764D;ENSP00000412178:A975D	ENSP00000320340:A764D	A	+	2	0	DGKZ	46356341	0.000000	0.05858	0.018000	0.16275	0.090000	0.18270	0.707000	0.25704	1.090000	0.41315	0.561000	0.74099	GCT	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389772.1		+	ENST00000454345.1	Missense_Mutation	SNP	11 : 46399765 - 46399765 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	76	13
ZBTB21	49854	broad.mit.edu	37	21	43411416	43411416	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43411416A>C	ENST00000398505.3	-	4	2369	c.2186T>G	c.(2185-2187)cTt>cGt	p.L729R	ZBTB21_ENST00000398511.3_Missense_Mutation_p.L930R|ZBTB21_ENST00000398499.1_Missense_Mutation_p.L930R|ZBTB21_ENST00000310826.5_Missense_Mutation_p.L930R	NM_001098403.1	NP_001091873.1			zinc finger and BTB domain containing 21	NA											NA						AGAGCACAGAAGCTCCTGGTG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	74	76			NA	NA	21		NA											NA				43411416		2203	4300	6503	SO:0001583	missense			AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276	49854	49854		-, BTB/POZ domain containing, Zinc fingers, C2H2-type	13083	protein-coding gene	gene with protein product			zinc finger protein 295	ZNF295	NA		Standard	NM_020727	NM_020727	NA	Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000398505.3:c.2186T>G	21.37:g.43411416A>C	ENSP00000381517:p.Leu729Arg	NA		37	CCDS42934.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.094100	0.76870	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.87	5.87	0.94306	Zinc finger, C2H2 (2);	0.000000	0.64402	D	0.000008	T	0.51873	0.1700	N	0.10945	0.07	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.62364	-0.6870	10	0.87932	D	0	-19.9548	16.2813	0.82687	1.0:0.0:0.0:0.0	.	729;930	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	R	729;930;930;930	ENSP00000381517:L729R;ENSP00000308759:L930R;ENSP00000381512:L930R;ENSP00000381523:L930R	ENSP00000308759:L930R	L	-	2	0	ZNF295	42284485	1.000000	0.71417	0.977000	0.42913	0.964000	0.63967	8.717000	0.91425	2.244000	0.73946	0.533000	0.62120	CTT	ZBTB21-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195307.1		-	ENST00000398505.3	Missense_Mutation	SNP	21 : 43411416 - 43411416 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	426	44
MIPOL1	145282	broad.mit.edu	37	14	37737973	37737973	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:37737973A>G	ENST00000556451.1	+	7	890	c.269A>G	c.(268-270)gAt>gGt	p.D90G	MIPOL1_ENST00000396294.2_Missense_Mutation_p.D121G|MIPOL1_ENST00000537471.1_Missense_Mutation_p.D121G|MIPOL1_ENST00000539174.2_3'UTR|MIPOL1_ENST00000539062.2_Missense_Mutation_p.D90G|MIPOL1_ENST00000327441.7_Missense_Mutation_p.D121G|MIPOL1_ENST00000545536.1_Missense_Mutation_p.D90G|MIPOL1_ENST00000536774.1_Intron			Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	121										breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		AAAGAATTGGATATTCTCAGA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	88	86			NA	NA	14		NA											NA				37737973		2201	4288	6489	SO:0001583	missense			AY059470	CCDS9664.1	14q13.3	2010-05-25			ENSG00000151338	ENSG00000151338	145282	145282			21460	protein-coding gene	gene with protein product		606850			NA	11954550, 19667180	Standard	NM_138731	NM_001195296	NA	Approved		uc001wuc.3	Q8TD10	OTTHUMG00000140252	ENST00000556451.1:c.269A>G	14.37:g.37737973A>G	ENSP00000450479:p.Asp90Gly	NA	D3DSA4|Q7Z3J0|Q8IV14	37		.	.	.	.	.	.	.	.	.	.	A	23.7	4.442142	0.83993	.	.	ENSG00000151338	ENST00000327441;ENST00000539062;ENST00000556451;ENST00000556753;ENST00000396294;ENST00000537471;ENST00000545536	T;T;T;T;T;T	0.56776	0.48;0.48;0.44;0.48;0.48;0.44	5.51	5.51	0.81932	.	0.243144	0.39146	N	0.001447	T	0.58935	0.2157	L	0.48642	1.525	0.80722	D	1	P;P	0.51449	0.57;0.945	B;P	0.52909	0.364;0.713	T	0.60146	-0.7320	10	0.49607	T	0.09	-2.1235	15.2974	0.73919	1.0:0.0:0.0:0.0	.	121;90	Q8TD10;Q49AL5	MIPO1_HUMAN;.	G	121;90;90;121;121;121;90	ENSP00000333539:D121G;ENSP00000438319:D90G;ENSP00000450479:D90G;ENSP00000379589:D121G;ENSP00000444254:D121G;ENSP00000442529:D90G	ENSP00000333539:D121G	D	+	2	0	MIPOL1	36807724	1.000000	0.71417	0.972000	0.41901	0.910000	0.53928	5.720000	0.68470	2.084000	0.62774	0.482000	0.46254	GAT	MIPOL1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000411117.1		+	ENST00000556451.1	Missense_Mutation	SNP	14 : 37737973 - 37737973 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	463	36
MYOZ3	91977	broad.mit.edu	37	5	150056304	150056304	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150056304G>A	ENST00000297130.4	+	7	822	c.623G>A	c.(622-624)gGc>gAc	p.G208D	MYOZ3_ENST00000520112.1_Silent_p.G124G|MYOZ3_ENST00000456566.2_3'UTR|MYOZ3_ENST00000517768.1_Missense_Mutation_p.G208D	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2	Q8TDC0	MYOZ3_HUMAN	myozenin 3	208						sarcomere	protein binding			large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCGTGGGGGGCACTTTTCCC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	73	69			NA	NA	5		NA											NA				150056304		2203	4300	6503	SO:0001583	missense			AF480443	CCDS4309.1	5q33.2	2008-07-18			ENSG00000164591	ENSG00000164591	91977	91977			18565	protein-coding gene	gene with protein product	calsarcin 3, FATZ related protein 3	610735			NA	11842093	Standard	NM_001122853	NM_001122853	NA	Approved	CS-3, CS3, FRP3	uc003lsr.3	Q8TDC0	OTTHUMG00000130077	ENST00000297130.4:c.623G>A	5.37:g.150056304G>A	ENSP00000297130:p.Gly208Asp	NA	B2R9Q4|Q8IVM1|Q8IVN1	37	CCDS4309.1	.	.	.	.	.	.	.	.	.	.	G	0.049	-1.255870	0.01457	.	.	ENSG00000164591	ENST00000517768;ENST00000297130	T;T	0.62232	0.04;0.04	5.2	4.05	0.47172	.	0.534254	0.18213	N	0.148114	T	0.30792	0.0776	N	0.03608	-0.345	0.21220	N	0.999752	B	0.02656	0.0	B	0.04013	0.001	T	0.25502	-1.0130	10	0.05959	T	0.93	-13.8802	7.1606	0.25662	0.8949:0.0:0.1051:0.0	.	208	Q8TDC0	MYOZ3_HUMAN	D	208	ENSP00000428815:G208D;ENSP00000297130:G208D	ENSP00000297130:G208D	G	+	2	0	MYOZ3	150036497	0.990000	0.36364	0.404000	0.26397	0.005000	0.04900	2.768000	0.47645	0.832000	0.34804	-0.302000	0.09304	GGC	MYOZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252369.1		+	ENST00000297130.4	Missense_Mutation	SNP	5 : 150056304 - 150056304 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	776	138
RNF31	55072	broad.mit.edu	37	14	24619958	24619958	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24619958G>T	ENST00000324103.6	+	8	1669	c.1349G>T	c.(1348-1350)aGc>aTc	p.S450I	RNF31_ENST00000559275.1_Missense_Mutation_p.S299I|RNF31_ENST00000382687.3_Missense_Mutation_p.S299I	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	450	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CCCTATGCCAGCTCTTTGGAA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	77	75			NA	NA	14		NA											NA				24619958		1882	4102	5984	SO:0001583	missense			AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098	55072	55072		RING-type (C3HC4) zinc fingers	16031	protein-coding gene	gene with protein product	HOIL-1-interacting protein	612487			NA	10422847	Standard	NM_017999	NM_017999	NA	Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.1349G>T	14.37:g.24619958G>T	ENSP00000315112:p.Ser450Ile	NA	Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	37	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102621	0.37145	.	.	ENSG00000092098	ENST00000324103;ENST00000382687	T;T	0.48836	0.8;0.8	5.87	3.0	0.34707	.	0.740640	0.13790	N	0.362573	T	0.41650	0.1168	L	0.56769	1.78	0.32017	N	0.601277	B;P;P	0.38078	0.346;0.483;0.617	B;B;B	0.37144	0.039;0.086;0.242	T	0.50800	-0.8785	10	0.45353	T	0.12	-1.4673	7.1867	0.25803	0.1577:0.1516:0.6907:0.0	.	265;450;299	B3KV71;Q96EP0;Q96EP0-3	.;RNF31_HUMAN;.	I	450;299	ENSP00000315112:S450I;ENSP00000372134:S299I	ENSP00000315112:S450I	S	+	2	0	RNF31	23689798	0.817000	0.29147	0.997000	0.53966	0.916000	0.54674	0.234000	0.17930	0.792000	0.33850	0.655000	0.94253	AGC	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071921.3		+	ENST00000324103.6	Missense_Mutation	SNP	14 : 24619958 - 24619958 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	783	64
FNBP1L	54874	broad.mit.edu	37	1	93998513	93998513	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93998513A>C	ENST00000370253.2	+	8	674	c.674A>C	c.(673-675)aAa>aCa	p.K225T	FNBP1L_ENST00000260506.8_Missense_Mutation_p.K225T|FNBP1L_ENST00000604705.1_Missense_Mutation_p.K225T|FNBP1L_ENST00000370256.4_Missense_Mutation_p.K225T|FNBP1L_ENST00000271234.7_Missense_Mutation_p.K225T			Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	225	Induction of membrane tubulation (By similarity).				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		AGGACTATTAAACTCAGTGAG	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	72	74			NA	NA	1		NA											NA				93998513		1831	4096	5927	SO:0001583	missense				CCDS53343.1, CCDS53344.1, CCDS60192.1	1p22.1	2008-02-05	2004-11-16	2004-11-17	ENSG00000137942	ENSG00000137942	54874	54874			20851	protein-coding gene	gene with protein product		608848	chromosome 1 open reading frame 39	C1orf39	NA	14654988	Standard	NM_017737	NM_017737	NA	Approved	TOCA1, FLJ20275	uc010otk.2	Q5T0N5	OTTHUMG00000010863	ENST00000370253.2:c.674A>C	1.37:g.93998513A>C	ENSP00000359275:p.Lys225Thr	NA	Q5T0N6|Q6B097|Q6P653|Q6R4Q4|Q9NXG1	37		.	.	.	.	.	.	.	.	.	.	A	25.0	4.595502	0.86953	.	.	ENSG00000137942	ENST00000370256;ENST00000271234;ENST00000260506;ENST00000370253;ENST00000424449	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.33789	0.0875	M	0.63843	1.955	0.80722	D	1	D;D;P	0.89917	0.999;1.0;0.865	D;D;B	0.87578	0.994;0.998;0.408	T	0.03739	-1.1008	10	0.36615	T	0.2	-19.1227	15.7725	0.78180	1.0:0.0:0.0:0.0	.	45;225;225	B4DSI7;Q5T0N5-4;Q5T0N5-3	.;.;.	T	225;225;225;225;92	ENSP00000359278:K225T;ENSP00000271234:K225T;ENSP00000260506:K225T;ENSP00000359275:K225T	ENSP00000260506:K225T	K	+	2	0	FNBP1L	93771101	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.678000	0.91211	2.131000	0.65755	0.482000	0.46254	AAA	FNBP1L-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000029979.2		+	ENST00000370253.2	Missense_Mutation	SNP	1 : 93998513 - 93998513 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	152	17
ADCK4	79934	broad.mit.edu	37	19	41201931	41201931	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41201931C>T	ENST00000324464.3	-	13	1473	c.1172G>A	c.(1171-1173)cGg>cAg	p.R391Q	ADCK4_ENST00000450541.1_Missense_Mutation_p.R350Q|ADCK4_ENST00000243583.6_Missense_Mutation_p.R350Q	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	391	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CCCAAACTCCCGGCTTGCACC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	134	138			NA	NA	19		NA											NA				41201931		2203	4300	6503	SO:0001583	missense			AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815	79934	79934			19041	protein-coding gene	gene with protein product		615567			NA		Standard	NM_024876	NM_024876	NA	Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.1172G>A	19.37:g.41201931C>T	ENSP00000315118:p.Arg391Gln	NA	Q8TAJ1|Q9HA52	37	CCDS12562.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404456	0.83230	.	.	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	T;T;T	0.68025	-0.3;-0.3;-0.3	4.78	3.75	0.43078	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.71134	0.3304	M	0.85630	2.765	0.53005	D	0.999967	D;P	0.60575	0.988;0.931	P;P	0.45195	0.473;0.468	T	0.77487	-0.2569	10	0.87932	D	0	-24.933	11.8167	0.52216	0.0:0.9133:0.0:0.0867	.	391;350	Q96D53;Q96D53-2	ADCK4_HUMAN;.	Q	391;350;350	ENSP00000315118:R391Q;ENSP00000412839:R350Q;ENSP00000243583:R350Q	ENSP00000243583:R350Q	R	-	2	0	ADCK4	45893771	1.000000	0.71417	0.998000	0.56505	0.894000	0.52154	5.595000	0.67563	1.245000	0.43885	0.561000	0.74099	CGG	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462731.1		-	ENST00000324464.3	Missense_Mutation	SNP	19 : 41201931 - 41201931 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	909	137
OAT	4942	broad.mit.edu	37	10	126094013	126094013	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:126094013C>T	ENST00000368845.5	-	5	732	c.640G>A	c.(640-642)Gca>Aca	p.A214T	OAT_ENST00000467675.1_5'UTR|OAT_ENST00000539214.1_Missense_Mutation_p.A76T	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	214					cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)	ACCTCCAGTGCGGGCAGATCA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	87	92			NA	NA	10		NA											NA				126094013		2203	4300	6503	SO:0001583	missense			BC016928	CCDS7639.1, CCDS53586.1	10q26	2014-09-17	2010-01-20		ENSG00000065154	ENSG00000065154	4942	4942	2.6.1.13		8091	protein-coding gene	gene with protein product	Ornithine aminotransferase, ornithine aminotransferase precursor, gyrate atrophy	613349			NA	1682785	Standard	NM_000274	NM_000274	NA	Approved	HOGA	uc001lhp.3	P04181	OTTHUMG00000019213	ENST00000368845.5:c.640G>A	10.37:g.126094013C>T	ENSP00000357838:p.Ala214Thr	NA	D3DRF0|Q16068|Q16069|Q6IAV9|Q9UD03	37	CCDS7639.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704650	0.68615	.	.	ENSG00000065154	ENST00000539214;ENST00000368845	D;D	0.99060	-5.38;-5.38	4.4	4.4	0.53042	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.105835	0.64402	D	0.000005	D	0.98880	0.9621	M	0.86864	2.845	0.80722	D	1	P	0.51351	0.944	P	0.48524	0.58	D	0.99880	1.1112	10	0.66056	D	0.02	-16.4873	17.8803	0.88838	0.0:1.0:0.0:0.0	.	214	P04181	OAT_HUMAN	T	76;214	ENSP00000439042:A76T;ENSP00000357838:A214T	ENSP00000357838:A214T	A	-	1	0	OAT	126084003	0.999000	0.42202	0.990000	0.47175	0.639000	0.38242	3.565000	0.53798	2.406000	0.81754	0.563000	0.77884	GCA	OAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050863.1		-	ENST00000368845.5	Missense_Mutation	SNP	10 : 126094013 - 126094013 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	411	36
MAN1A2	10905	broad.mit.edu	37	1	117945040	117945040	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117945040G>A	ENST00000356554.3	+	2	1270	c.535G>A	c.(535-537)Gag>Aag	p.E179K	MAN1A2_ENST00000482811.1_Intron	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	179					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TGACATAAGAGAGAAAAGGGA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(33;199 881 8228 13687 31538)							NA				0													63	66	65			NA	NA	1		NA											NA				117945040		2203	4296	6499	SO:0001583	missense			AF027156	CCDS895.1	1p13	2008-02-05			ENSG00000198162	ENSG00000198162	10905	10905			6822	protein-coding gene	gene with protein product		604345			NA	9592125	Standard	NM_006699	NM_006699	NA	Approved	MAN1B	uc001ehd.1	O60476	OTTHUMG00000012149	ENST00000356554.3:c.535G>A	1.37:g.117945040G>A	ENSP00000348959:p.Glu179Lys	NA	Q9H510	37	CCDS895.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.146089	0.37923	.	.	ENSG00000198162	ENST00000356554	D	0.83673	-1.75	5.76	-3.91	0.04168	.	0.499176	0.22515	N	0.059058	T	0.59851	0.2224	L	0.49126	1.545	0.47621	D	0.999476	B	0.02656	0.0	B	0.06405	0.002	T	0.39921	-0.9590	10	0.33141	T	0.24	-0.5461	10.915	0.47131	0.169:0.1246:0.7064:0.0	.	179	O60476	MA1A2_HUMAN	K	179	ENSP00000348959:E179K	ENSP00000348959:E179K	E	+	1	0	MAN1A2	117746563	1.000000	0.71417	0.055000	0.19348	0.909000	0.53808	2.466000	0.45084	-0.759000	0.04684	-0.136000	0.14681	GAG	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033593.1		+	ENST00000356554.3	Missense_Mutation	SNP	1 : 117945040 - 117945040 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	342	65
VCPIP1	80124	broad.mit.edu	37	8	67577555	67577555	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67577555G>A	ENST00000310421.4	-	1	1897	c.1639C>T	c.(1639-1641)Cga>Tga	p.R547*		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	547					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CTGACCTTTCGCACAGATGTG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(179;265 2915 6144 43644)							NA				0													199	182	188			NA	NA	8		NA											NA				67577555		2203	4300	6503	SO:0001587	stop_gained			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073	80124	80124		OTU domain containing	30897	protein-coding gene	gene with protein product		611745			NA	11347906, 12509440	Standard		NM_025054	NA	Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.1639C>T	8.37:g.67577555G>A	ENSP00000309031:p.Arg547*	NA	Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	37	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	G	39	7.657651	0.98415	.	.	ENSG00000175073	ENST00000310421	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.3201	18.6399	0.91392	0.0:0.0:1.0:0.0	.	.	.	.	X	547	.	ENSP00000309031:R547X	R	-	1	2	VCPIP1	67740109	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.454000	0.82982	0.650000	0.86243	CGA	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379227.1		-	ENST00000310421.4	Nonsense_Mutation	SNP	8 : 67577555 - 67577555 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1255	227
MORC1	27136	broad.mit.edu	37	3	108818260	108818260	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108818260G>A	ENST00000483760.1	-	6	411	c.368C>T	c.(367-369)aCg>aTg	p.T123M	MORC1_ENST00000232603.5_Missense_Mutation_p.T123M			Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	123					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ACAGGTCATCGTTTCTTCCTT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	124	124			NA	NA	3		NA											NA				108818260		2201	4299	6500	SO:0001583	missense			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487	27136	27136			7198	protein-coding gene	gene with protein product	cancer/testis antigen 33	603205	microrchidia (mouse) homolog, microrchidia homolog (mouse)	MORC	NA	10369865	Standard		NM_014429	NA	Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.368C>T	3.37:g.108818260G>A	ENSP00000417282:p.Thr123Met	NA	Q7L8E2|Q9NSG7|Q9Y6D4	37		.	.	.	.	.	.	.	.	.	.	G	16.58	3.161618	0.57368	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	D;D	0.95001	-3.58;-3.58	4.78	4.78	0.61160	ATPase-like, ATP-binding domain (3);	0.000000	0.50627	D	0.000108	D	0.96917	0.8993	M	0.78916	2.43	0.29482	N	0.856305	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.993	D	0.93587	0.6918	10	0.66056	D	0.02	-13.7836	15.6854	0.77405	0.0:0.0:1.0:0.0	.	123;123	E7ERX1;Q86VD1	.;MORC1_HUMAN	M	123	ENSP00000232603:T123M;ENSP00000417282:T123M	ENSP00000232603:T123M	T	-	2	0	MORC1	110300950	1.000000	0.71417	0.999000	0.59377	0.815000	0.46073	4.018000	0.57174	2.643000	0.89663	0.555000	0.69702	ACG	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000353844.1		-	ENST00000483760.1	Missense_Mutation	SNP	3 : 108818260 - 108818260 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	283	47
CDC23	8697	broad.mit.edu	37	5	137525388	137525388	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137525388G>A	ENST00000394886.2	-	15	1587	c.1557C>T	c.(1555-1557)taC>taT	p.Y519Y		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	519					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ACTTAAAATAGTACTGGGCCA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	82	84			NA	NA	5		NA											NA				137525388		2203	4300	6503	SO:0001819	synonymous_variant			AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880	8697	8697		Anaphase promoting complex subunits, Tetratricopeptide (TTC) repeat domain containing	1724	protein-coding gene	gene with protein product	anaphase promoting complex subunit 8	603462	CDC23 (cell division cycle 23, yeast, homolog), cell division cycle 23 homolog (S. cerevisiae)		NA	9790767	Standard		NM_004661	NA	Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.1557C>T	5.37:g.137525388G>A		NA	A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	37	CCDS4200.2																																																																																			CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251275.2		-	ENST00000394886.2	Silent	SNP	5 : 137525388 - 137525388 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	303	53
GMPPA	29926	broad.mit.edu	37	2	220370767	220370767	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220370767C>A	ENST00000358215.3	+	11	1335	c.966C>A	c.(964-966)agC>agA	p.S322R	GMPPA_ENST00000373908.1_Missense_Mutation_p.S322R|GMPPA_ENST00000341142.3_Missense_Mutation_p.S322R|GMPPA_ENST00000373917.3_Missense_Mutation_p.S375R|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000313597.5_Missense_Mutation_p.S322R	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	322					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		TCCGGGAGAGCATCGTCCTCC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	36	38			NA	NA	2		NA											NA				220370767		2202	4299	6501	SO:0001583	missense			AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591	29926	29926			22923	protein-coding gene	gene with protein product		615495			NA		Standard	NM_013335	NM_205847	NA	Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.966C>A	2.37:g.220370767C>A	ENSP00000350949:p.Ser322Arg	NA	A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	37	CCDS2441.1	.	.	.	.	.	.	.	.	.	.	c	15.48	2.846470	0.51164	.	.	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000341142	D;D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57;-3.57	3.93	2.06	0.26882	Hexapeptide transferase, conserved site (1);	0.176776	0.49916	D	0.000126	D	0.94614	0.8264	M	0.85630	2.765	0.58432	D	0.999999	P;B	0.35493	0.505;0.391	B;B	0.41691	0.364;0.119	D	0.92854	0.6300	10	0.72032	D	0.01	5.0339	10.2762	0.43512	0.0:0.8438:0.0:0.1562	.	375;322	Q96IJ6-2;Q96IJ6	.;GMPPA_HUMAN	R	322;375;322;322;322	ENSP00000315925:S322R;ENSP00000363027:S375R;ENSP00000350949:S322R;ENSP00000363016:S322R;ENSP00000340760:S322R	ENSP00000315925:S322R	S	+	3	2	GMPPA	220079011	1.000000	0.71417	0.999000	0.59377	0.866000	0.49608	2.844000	0.48246	0.402000	0.25451	0.552000	0.68991	AGC	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130230.1		+	ENST00000358215.3	Missense_Mutation	SNP	2 : 220370767 - 220370767 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	83	15
NOD1	10392	broad.mit.edu	37	7	30496420	30496420	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30496420G>T	ENST00000222823.4	-	4	643	c.118C>A	c.(118-120)Ctg>Atg	p.L40M	NOD1_ENST00000423334.2_Missense_Mutation_p.L40M	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	40	CARD.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|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	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TTGTCCACCAGACACTGAGTA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	153	161			NA	NA	7		NA											NA				30496420		2203	4300	6503	SO:0001583	missense			AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100	10392	10392		Nucleotide-binding domain and leucine rich repeat containing	16390	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1, NLR family, CARD domain containing 1	605980	caspase recruitment domain family, member 4	CARD4	NA	10224040, 10329646	Standard		NM_006092	NA	Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.118C>A	7.37:g.30496420G>T	ENSP00000222823:p.Leu40Met	NA	Q549U4|Q8IWF5	37	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887516	0.72410	.	.	ENSG00000106100	ENST00000222823;ENST00000423334;ENST00000411552;ENST00000419799;ENST00000413433;ENST00000419601	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	5.8	4.92	0.64577	DEATH-like (2);Caspase Recruitment (2);	0.070867	0.56097	D	0.000035	T	0.50222	0.1603	M	0.73962	2.25	0.54753	D	0.999989	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.986	T	0.39078	-0.9631	10	0.26408	T	0.33	.	9.7691	0.40578	0.1422:0.0:0.8578:0.0	.	40;40	B4DTU3;Q9Y239	.;NOD1_HUMAN	M	40	ENSP00000222823:L40M;ENSP00000409416:L40M;ENSP00000396046:L40M;ENSP00000395551:L40M;ENSP00000399505:L40M	ENSP00000222823:L40M	L	-	1	2	NOD1	30462945	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.014000	0.29950	2.744000	0.94065	0.655000	0.94253	CTG	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250443.2		-	ENST00000222823.4	Missense_Mutation	SNP	7 : 30496420 - 30496420 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	504	97
IKZF1	10320	broad.mit.edu	37	7	50444451	50444451	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50444451C>T	ENST00000331340.3	+	4	536	c.381C>T	c.(379-381)atC>atT	p.I127I	IKZF1_ENST00000439701.1_Silent_p.I127I|IKZF1_ENST00000357364.4_Silent_p.I127I|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000440768.2_Silent_p.I127I|IKZF1_ENST00000359197.5_Silent_p.I127I|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000349824.4_Silent_p.I127I|IKZF1_ENST00000438033.1_Intron	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	127					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TCATTTGCATCGGGCCCAATG	0.517		NA	D,T	BCL6	ALL, DLBCL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec,Dom	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	131	Unknown(131)	haematopoietic_and_lymphoid_tissue(131)											64	65	65			NA	NA	7		NA											NA				50444451		1947	4158	6105	SO:0001819	synonymous_variant			U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811	10320	10320		Zinc fingers, C2H2-type, IKAROS zinc fingers	13176	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 92	603023	zinc finger protein, subfamily 1A, 1 (Ikaros)	ZNFN1A1	NA	1439790, 7935426	Standard	NM_006060	NM_006060	NA	Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.381C>T	7.37:g.50444451C>T		NA	A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q8WVA3	37																																																																																				IKZF1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000342242.1		+	ENST00000331340.3	Silent	SNP	7 : 50444451 - 50444451 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	275	42
FNDC1	84624	broad.mit.edu	37	6	159653575	159653575	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159653575G>A	ENST00000297267.9	+	11	2231	c.2031G>A	c.(2029-2031)ccG>ccA	p.P677P	FNDC1_ENST00000340366.6_Silent_p.P614P	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	677	Ser-rich.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCAGTCCCCGTCCAGCGTTC	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,3878		0,0,1939	14	18	17		2031	-0.7	0	6		17	1,8175		0,1,4087	no	coding-synonymous	FNDC1	NM_032532.2		0,1,6026	AA,AG,GG	NA	0.0122,0.0,0.0083		677/1895	159653575	1,12053	1939	4088	6027	SO:0001819	synonymous_variant			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694	84624	84624		Fibronectin type III domain containing	21184	protein-coding gene	gene with protein product		609991	fibronectin type III domain containing 2	FNDC2	NA	11347906	Standard	NM_032532	NM_032532	NA	Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2031G>A	6.37:g.159653575G>A		NA	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	37	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	5.566	0.289340	0.10513	0.0	1.22E-4	ENSG00000164694	ENST00000329629	.	.	.	4.79	-0.683	0.11335	.	.	.	.	.	T	0.09069	0.0224	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36625	-0.9740	4	.	.	.	-0.2902	4.3537	0.11167	0.0:0.3712:0.3191:0.3097	.	.	.	.	I	573	.	.	V	+	1	0	FNDC1	159573565	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.725000	0.04942	-0.380000	0.07894	-0.133000	0.14855	GTC	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042897.3		+	ENST00000297267.9	Silent	SNP	6 : 159653575 - 159653575 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	51
CHAT	1103	broad.mit.edu	37	10	50854680	50854680	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50854680G>T	ENST00000337653.2	+	8	1394	c.1241G>T	c.(1240-1242)aGc>aTc	p.S414I	CHAT_ENST00000395559.2_Missense_Mutation_p.S296I|CHAT_ENST00000339797.1_Missense_Mutation_p.S296I|CHAT_ENST00000395562.2_Missense_Mutation_p.S332I|CHAT_ENST00000455728.2_Missense_Mutation_p.S296I|CHAT_ENST00000351556.3_Missense_Mutation_p.S296I	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	414					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GGAGGCTACAGCAAGAACGGG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	68	72			NA	NA	10		NA											NA				50854680		2203	4300	6503	SO:0001583	missense			AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	1103	1103	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	choline acetyltransferase		NA	1840566	Standard	NM_020549	NM_020984	NA	Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1241G>T	10.37:g.50854680G>T	ENSP00000337103:p.Ser414Ile	NA	A2BDF4|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	37	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608387	0.46527	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57;-2.57;-2.57	5.46	5.46	0.80206	.	0.273852	0.41823	D	0.000806	D	0.82710	0.5096	N	0.20986	0.625	0.32519	N	0.536469	B;P	0.49635	0.314;0.926	B;P	0.45377	0.129;0.478	D	0.85254	0.1046	10	0.40728	T	0.16	-21.1977	10.4463	0.44497	0.1195:0.0:0.8805:0.0	.	296;414	F8W8I2;P28329	.;CLAT_HUMAN	I	296;296;296;414;332;296	ENSP00000343486:S296I;ENSP00000345878:S296I;ENSP00000378926:S296I;ENSP00000337103:S414I;ENSP00000378929:S332I;ENSP00000390521:S296I	ENSP00000337103:S414I	S	+	2	0	CHAT	50524686	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	3.560000	0.53763	2.569000	0.86673	0.655000	0.94253	AGC	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047997.1		+	ENST00000337653.2	Missense_Mutation	SNP	10 : 50854680 - 50854680 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	348	59
PPP1R42	286187	broad.mit.edu	37	8	67926689	67926689	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67926689G>A	ENST00000522909.1	-	3	452	c.268C>T	c.(268-270)Ctc>Ttc	p.L90F	PPP1R42_ENST00000517834.1_Intron|PPP1R42_ENST00000324682.5_Missense_Mutation_p.L90F			Q7Z4L9	LRC67_HUMAN	protein phosphatase 1, regulatory subunit 42	90											NA						AATGACCTGAGGTTCTCTATA	0.284		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	97	94			NA	NA	8		NA											NA				67926689		2203	4292	6495	SO:0001583	missense			BC055413	CCDS34902.1	8q13.1-q13.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000178125	ENSG00000178125	286187	286187		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	33732	protein-coding gene	gene with protein product	testis leucine-rich repeat		leucine rich repeat containing 67	LRRC67	NA		Standard	NM_001013626	NM_001013626	NA	Approved	dtr, TLLR	uc003xxc.3	Q7Z4L9	OTTHUMG00000164745	ENST00000522909.1:c.268C>T	8.37:g.67926689G>A	ENSP00000429721:p.Leu90Phe	NA		37		.	.	.	.	.	.	.	.	.	.	G	23.5	4.418317	0.83449	.	.	ENSG00000178125	ENST00000522909;ENST00000421742;ENST00000324682	T;T	0.18960	2.18;2.18	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.50531	0.1621	M	0.82193	2.58	0.58432	D	0.999993	D	0.76494	0.999	D	0.76575	0.988	T	0.53989	-0.8360	10	0.87932	D	0	-2.997	15.5585	0.76219	0.0:0.0:0.8615:0.1385	.	90	Q7Z4L9-2	.	F	90	ENSP00000429721:L90F;ENSP00000315035:L90F	ENSP00000315035:L90F	L	-	1	0	LRRC67	68089243	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	6.291000	0.72719	2.721000	0.93114	0.591000	0.81541	CTC	PPP1R42-011	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000381489.1		-	ENST00000522909.1	Missense_Mutation	SNP	8 : 67926689 - 67926689 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	568	92
ZFC3H1	196441	broad.mit.edu	37	12	72032277	72032277	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72032277G>A	ENST00000378743.3	-	7	2004	c.1646C>T	c.(1645-1647)cCg>cTg	p.P549L		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	549	Pro-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GAAAAATGGCGGTTGCACTGG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	50	50			NA	NA	12		NA											NA				72032277		1805	4069	5874	SO:0001583	missense			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858	196441	196441		Zinc finger, C3H1-type containing	28328	protein-coding gene	gene with protein product			proline/serine-rich coiled-coil 2, coiled-coil domain containing 131	PSRC2, CCDC131	NA	9628581	Standard	NM_144982	NM_144982	NA	Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.1646C>T	12.37:g.72032277G>A	ENSP00000368017:p.Pro549Leu	NA	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	37	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	G	9.495	1.101597	0.20632	.	.	ENSG00000133858	ENST00000378743	T	0.30448	1.53	5.39	3.52	0.40303	.	0.401401	0.25680	N	0.029017	T	0.17152	0.0412	N	0.12182	0.205	0.58432	D	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.04191	-1.0970	10	0.32370	T	0.25	.	11.069	0.47993	0.0:0.0:0.6645:0.3355	.	549	O60293	ZC3H1_HUMAN	L	549	ENSP00000368017:P549L	ENSP00000368017:P549L	P	-	2	0	ZFC3H1	70318544	1.000000	0.71417	0.998000	0.56505	0.473000	0.32948	1.804000	0.38873	0.603000	0.29913	0.655000	0.94253	CCG	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404751.1		-	ENST00000378743.3	Missense_Mutation	SNP	12 : 72032277 - 72032277 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	103	21
UNC79	57578	broad.mit.edu	37	14	94170971	94170971	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94170971C>A	ENST00000553484.1	+	50	7886	c.7732C>A	c.(7732-7734)Ctg>Atg	p.L2578M	UNC79_ENST00000393151.2_Splice_Site_p.L2556M|UNC79_ENST00000555664.1_Splice_Site_p.L2517M|UNC79_ENST00000256339.4_Splice_Site_p.L2379M			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2556						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTCTATACAGCTGATACCTAT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	165	168			NA	NA	14		NA											NA				94170971		2203	4300	6503	SO:0001630	splice_region_variant			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958	57578	57578			19966	protein-coding gene	gene with protein product			KIAA1409	KIAA1409	NA	20714347, 21040849	Standard	XM_028395	NM_020818	NA	Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000553484.1:c.7732-1C>A	14.37:g.94170971C>A		NA	Q6ZUT7	37		.	.	.	.	.	.	.	.	.	.	c	19.12	3.766397	0.69878	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.39406	1.09;1.14;1.08;1.09	5.77	4.89	0.63831	.	0.000000	0.64402	D	0.000001	T	0.64057	0.2564	M	0.73962	2.25	0.49389	D	0.999786	D	0.89917	1.0	D	0.91635	0.999	T	0.66176	-0.5989	9	.	.	.	-13.0009	14.5704	0.68208	0.0:0.9302:0.0:0.0698	.	2578	C9JQL1	.	M	2379;2517;2578;2556;2578	ENSP00000256339:L2379M;ENSP00000450868:L2517M;ENSP00000451360:L2578M;ENSP00000376858:L2556M	.	L	+	1	2	KIAA1409	93240724	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.347000	0.52200	1.436000	0.47453	0.651000	0.88453	CTG	UNC79-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000074289.4	Missense_Mutation	+	ENST00000553484.1	Splice_Site	SNP	14 : 94170971 - 94170971 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	546	82
IGF2R	3482	broad.mit.edu	37	6	160494321	160494321	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160494321G>A	ENST00000356956.1	+	34	4915	c.4767G>A	c.(4765-4767)caG>caA	p.Q1589Q		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1589					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AGGTCCTGCAGCTGGTGTACA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													186	144	158			NA	NA	6		NA											NA				160494321		2203	4300	6503	SO:0001819	synonymous_variant			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081	3482	3482		CD molecules	5467	protein-coding gene	gene with protein product	cation-independent mannose-6 phosphate receptor	147280			NA		Standard	NM_000876	NM_000876	NA	Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.4767G>A	6.37:g.160494321G>A		NA	Q7Z7G9|Q96PT5	37	CCDS5273.1																																																																																			IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042931.1		+	ENST00000356956.1	Silent	SNP	6 : 160494321 - 160494321 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	260	22
EPHA4	2043	broad.mit.edu	37	2	222428879	222428879	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:222428879T>C	ENST00000409854.1	-	3	429	c.395A>G	c.(394-396)gAc>gGc	p.D132G	EPHA4_ENST00000409938.1_Missense_Mutation_p.D132G|EPHA4_ENST00000281821.2_Missense_Mutation_p.D132G|EPHA4_ENST00000392071.4_Missense_Mutation_p.D81G			P54764	EPHA4_HUMAN	EPH receptor A4	132						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		ACGCTCTTTGTCGTTGTCTGA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	157	162			NA	NA	2		NA											NA				222428879		2203	4300	6503	SO:0001583	missense			L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2043	2043	2.7.10.1	EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3388	protein-coding gene	gene with protein product		602188	EphA4	TYRO1	NA	9267020	Standard		NM_004438	NA	Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000409854.1:c.395A>G	2.37:g.222428879T>C	ENSP00000386276:p.Asp132Gly	NA	Q2M380	37		.	.	.	.	.	.	.	.	.	.	T	17.37	3.373050	0.61624	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071;ENST00000419964;ENST00000541600	T;T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8;2.8	6.17	6.17	0.99709	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.20740	0.0499	M	0.71581	2.175	0.80722	D	1	P	0.36712	0.566	B	0.40702	0.338	T	0.00443	-1.1736	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	132	P54764	EPHA4_HUMAN	G	132;132;132;81;73;132	ENSP00000281821:D132G;ENSP00000386276:D132G;ENSP00000386829:D132G;ENSP00000375923:D81G;ENSP00000410158:D73G;ENSP00000444085:D132G	ENSP00000281821:D132G	D	-	2	0	EPHA4	222137123	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.289000	0.72696	2.371000	0.80710	0.533000	0.62120	GAC	EPHA4-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000332696.2		-	ENST00000409854.1	Missense_Mutation	SNP	2 : 222428879 - 222428879 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	788	32
PIK3C2B	5287	broad.mit.edu	37	1	204394128	204394128	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204394128C>T	ENST00000367187.3	-	34	5313	c.4757G>A	c.(4756-4758)cGg>cAg	p.R1586Q	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1558Q|RP11-739N20.2_ENST00000443515.1_RNA	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1586	C2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CTGGAGCTCCCGCTGCTGCAG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	GLN/ARG	0,4406		0,0,2203	68	57	61		4757	5.3	1	1		61	1,8599	1.2+/-3.3	0,1,4299	no	missense	PIK3C2B	NM_002646.3	43	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	1586/1635	204394128	1,13005	2203	4300	6503	SO:0001583	missense			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	5287	5287	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	phosphoinositide-3-kinase, class 2, beta polypeptide		NA	9144573, 9830063	Standard	NM_002646	NM_002646	NA	Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.4757G>A	1.37:g.204394128C>T	ENSP00000356155:p.Arg1586Gln	NA	O95666|Q5SW99	37	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965639	0.92855	0.0	1.16E-4	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.78595	-1.19;-1.19	5.26	5.26	0.73747	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.86908	0.6046	M	0.64080	1.96	0.43408	D	0.995544	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.985	D	0.87946	0.2720	10	0.72032	D	0.01	.	18.464	0.90749	0.0:1.0:0.0:0.0	.	1558;1586	F5GWN5;O00750	.;P3C2B_HUMAN	Q	1586;1558	ENSP00000356155:R1586Q;ENSP00000400561:R1558Q	ENSP00000356155:R1586Q	R	-	2	0	PIK3C2B	202660751	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.775000	0.85489	2.465000	0.83290	0.655000	0.94253	CGG	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087965.1		-	ENST00000367187.3	Missense_Mutation	SNP	1 : 204394128 - 204394128 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	185	38
MLIP	90523	broad.mit.edu	37	6	54095632	54095632	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54095632G>A	ENST00000502396.1	+	12	2871	c.2839G>A	c.(2839-2841)Gga>Aga	p.G947R	MLIP_ENST00000358276.5_Intron|MLIP_ENST00000274897.5_Missense_Mutation_p.G412R|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000370877.2_Intron	NM_001281747.1	NP_001268676.1	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	412						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						TCTTGCCCCAGGACCCTTCAG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													260	229	240			NA	NA	6		NA											NA				54095632		2203	4300	6503	SO:0001583	missense			AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147	90523	90523			21355	protein-coding gene	gene with protein product	muscle-enriched A-type lamin interacting protein	614106	chromosome 6 open reading frame 142	C6orf142	NA	21498514	Standard	NM_138569	NM_138569	NA	Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000502396.1:c.2839G>A	6.37:g.54095632G>A	ENSP00000426290:p.Gly947Arg	NA	B7Z2N0|Q96H08|Q96NF7	37		.	.	.	.	.	.	.	.	.	.	G	20.6	4.017688	0.75161	.	.	ENSG00000146147	ENST00000274897;ENST00000502396	T;T	0.28454	1.97;1.61	5.59	5.59	0.84812	.	0.000000	0.41294	D	0.000905	T	0.33089	0.0851	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.22277	-1.0221	10	0.87932	D	0	.	15.1015	0.72279	0.0:0.0:1.0:0.0	.	947;412	Q5VWP3-3;Q5VWP3	.;MLIP_HUMAN	R	412;947	ENSP00000274897:G412R;ENSP00000426290:G947R	ENSP00000274897:G412R	G	+	1	0	MLIP	54203591	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	3.200000	0.51051	2.622000	0.88805	0.650000	0.86243	GGA	MLIP-008	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000360049.1		+	ENST00000502396.1	Missense_Mutation	SNP	6 : 54095632 - 54095632 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1185	229
BASP1	10409	broad.mit.edu	37	5	17275470	17275470	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:17275470G>A	ENST00000322611.3	+	2	405	c.145G>A	c.(145-147)Gcc>Acc	p.A49T		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	49					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding			endometrium(1)|lung(8)	9						CGCAGAGCCCGCCGAGGCCAA	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	23	21			NA	NA	5		NA											NA				17275470		2171	4251	6422	SO:0001583	missense			AF039656	CCDS3888.1	5p15.1	2010-12-03			ENSG00000176788	ENSG00000176788	10409	10409			957	protein-coding gene	gene with protein product		605940			NA	9310187, 9749536	Standard		NM_001271606	NA	Approved	NAP-22, NAP22, CAP23, CAP-23	uc031siz.1	P80723	OTTHUMG00000131061	ENST00000322611.3:c.145G>A	5.37:g.17275470G>A	ENSP00000319281:p.Ala49Thr	NA	B4DJA8|D3DTD5|O43596|Q5U0S0|Q9BWA5	37	CCDS3888.1	.	.	.	.	.	.	.	.	.	.	G	3.895	-0.023250	0.07634	.	.	ENSG00000176788	ENST00000322611;ENST00000447228	T	0.37235	1.21	4.57	-2.57	0.06248	.	0.106078	0.39687	N	0.001289	T	0.06050	0.0157	N	0.00368	-1.59	0.22811	N	0.998704	B	0.09022	0.002	B	0.11329	0.006	T	0.36915	-0.9728	10	0.02654	T	1	1.1939	5.7382	0.18079	0.4852:0.1426:0.3722:0.0	.	49	P80723	BASP1_HUMAN	T	49	ENSP00000319281:A49T	ENSP00000319281:A49T	A	+	1	0	BASP1	17328470	0.000000	0.05858	0.008000	0.14137	0.730000	0.41778	-0.936000	0.03946	-0.514000	0.06488	0.455000	0.32223	GCC	BASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253716.2		+	ENST00000322611.3	Missense_Mutation	SNP	5 : 17275470 - 17275470 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	124	19
PEG10	23089	broad.mit.edu	37	7	94293496	94293496	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94293496C>T	ENST00000482108.1	+	2	1107	c.628C>T	c.(628-630)Ctc>Ttc	p.L210F	PEG10_ENST00000488574.1_Missense_Mutation_p.L210F	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	210	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CCACGAGGGCCTCAGCGACCA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	122	119			NA	NA	7		NA											NA				94293496		2097	4213	6310	SO:0001583	missense			AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265	23089	23089			14005	protein-coding gene	gene with protein product		609810			NA	11318613, 15716091, 16093683	Standard	NM_015068	NM_001172437	NA	Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.628C>T	7.37:g.94293496C>T	ENSP00000417587:p.Leu210Phe	NA	Q96A68|Q9UPV1	37	CCDS55126.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822762	0.71028	.	.	ENSG00000242265	ENST00000482108;ENST00000488574	T;T	0.44881	0.91;0.91	4.05	4.05	0.47172	Retrotransposon gag protein (1);	.	.	.	.	T	0.63129	0.2485	M	0.72894	2.215	0.31822	N	0.625821	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.68788	-0.5316	9	0.66056	D	0.02	.	14.1258	0.65219	0.0:1.0:0.0:0.0	.	286;210	B4DSP0;Q86TG7	.;PEG10_HUMAN	F	210	ENSP00000417587:L210F;ENSP00000418944:L210F	ENSP00000417587:L210F	L	+	1	0	PEG10	94131432	0.999000	0.42202	1.000000	0.80357	0.974000	0.67602	2.473000	0.45145	2.276000	0.75962	0.555000	0.69702	CTC	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340751.1		+	ENST00000482108.1	Missense_Mutation	SNP	7 : 94293496 - 94293496 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	749	152
SNW1	22938	broad.mit.edu	37	14	78221419	78221419	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78221419G>T	ENST00000261531.7	-	2	121	c.59C>A	c.(58-60)gCt>gAt	p.A20D	SNW1_ENST00000555761.1_Missense_Mutation_p.A20D|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Intron	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	20					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CTTTTCTTCAGCCTCAAGCTG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	60	63			NA	NA	14		NA											NA				78221419		2203	4300	6503	SO:0001583	missense			AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603	22938	22938			16696	protein-coding gene	gene with protein product		603055	SKI interacting protein	SKIIP	NA	8973337, 9632709	Standard	NM_012245	NM_012245	NA	Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.59C>A	14.37:g.78221419G>T	ENSP00000261531:p.Ala20Asp	NA	A8K8A9|Q13483|Q32N03|Q5D0D6	37	CCDS9867.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671489	0.47781	.	.	ENSG00000100603	ENST00000261531;ENST00000555761;ENST00000416259;ENST00000554324	.	.	.	6.04	6.04	0.98038	.	0.145914	0.64402	D	0.000009	T	0.41373	0.1156	N	0.26042	0.785	0.58432	D	0.999999	B;B	0.24186	0.001;0.099	B;B	0.19946	0.002;0.027	T	0.27502	-1.0072	9	0.14252	T	0.57	.	11.4594	0.50202	0.1068:0.0:0.8932:0.0	.	20;20	G3V3A4;Q13573	.;SNW1_HUMAN	D	20	.	ENSP00000261531:A20D	A	-	2	0	SNW1	77291172	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.028000	0.70889	2.873000	0.98535	0.561000	0.74099	GCT	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413912.1		-	ENST00000261531.7	Missense_Mutation	SNP	14 : 78221419 - 78221419 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	197	32
RUNX2	860	broad.mit.edu	37	6	45459688	45459688	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:45459688G>A	ENST00000371438.1	+	5	1054	c.696G>A	c.(694-696)caG>caA	p.Q232Q	RUNX2_ENST00000371436.6_Silent_p.Q232Q|RUNX2_ENST00000576263.1_Silent_p.Q232Q|RUNX2_ENST00000371432.3_Silent_p.Q218Q|RUNX2_ENST00000359524.5_Silent_p.Q218Q|RUNX2_ENST00000541979.1_Silent_p.Q300Q|RUNX2_ENST00000352853.5_Silent_p.Q300Q|RUNX2_ENST00000465038.2_Silent_p.Q232Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	232					negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GGCACAGACAGAAGCTTGATG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													436	351	380			NA	NA	6		NA											NA				45459688		2203	4300	6503	SO:0001819	synonymous_variant			AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813	860	860			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1	NA	7835892	Standard	NM_004348	NM_001024630	NA	Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.696G>A	6.37:g.45459688G>A		NA	O14614|O14615|O95181	37	CCDS43467.2																																																																																			RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040755.2		+	ENST00000371438.1	Silent	SNP	6 : 45459688 - 45459688 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1217	92
ZNF254	9534	broad.mit.edu	37	19	24289407	24289407	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:24289407G>A	ENST00000357002.4	+	3	330	c.215G>A	c.(214-216)tGg>tAg	p.W72*	ZNF254_ENST00000342944.6_Intron|ZNF254_ENST00000339642.6_Nonsense_Mutation_p.W72*	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	72	KRAB.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				NA		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AAAGAGCCCTGGAATATGAAG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	140	137			NA	NA	19		NA											NA				24289407		1511	2709	4220	SO:0001587	stop_gained			AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096	9534	9534		Zinc fingers, C2H2-type, -	13047	protein-coding gene	gene with protein product		604768	zinc finger protein 539	ZNF91L, ZNF539	NA	9653160	Standard	NM_004876	NM_001278661	NA	Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.215G>A	19.37:g.24289407G>A	ENSP00000349494:p.Trp72*	NA	A4QPC0|Q86XL7	37	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	G	8.196	0.796989	0.16327	.	.	ENSG00000213096	ENST00000357002;ENST00000392281;ENST00000339642	.	.	.	0.225	0.225	0.15325	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	.	.	.	.	.	.	.	X	72	.	ENSP00000341573:W72X	W	+	2	0	ZNF254	24081247	0.123000	0.22298	0.064000	0.19789	0.065000	0.16274	1.038000	0.30254	0.300000	0.22699	0.305000	0.20034	TGG	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466453.1		+	ENST00000357002.4	Nonsense_Mutation	SNP	19 : 24289407 - 24289407 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	821	65
PHYHIP	9796	broad.mit.edu	37	8	22079169	22079169	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22079169C>T	ENST00000321613.3	-	6	1146	c.690G>A	c.(688-690)acG>acA	p.T230T	PHYHIP_ENST00000454243.2_Silent_p.T230T	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	230										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		AGTGGTAGGCCGTGTACATGC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	2,4114		0,2,2056	19	25	23		690,690	-4.2	1	8		23	0,8376		0,0,4188	no	coding-synonymous,coding-synonymous	PHYHIP	NM_001099335.1,NM_014759.3	,	0,2,6244	TT,TC,CC	NA	0.0,0.0486,0.016	,	230/331,230/331	22079169	2,12490	2058	4188	6246	SO:0001819	synonymous_variant			D87463	CCDS43723.1	8p21.2	2010-02-17	2006-01-09		ENSG00000168490	ENSG00000168490	9796	9796			16865	protein-coding gene	gene with protein product		608511	phytanoyl-CoA hydroxylase interacting protein, DYRK1A interacting protein 3	DYRK1AP3	NA	9039502, 10686344	Standard	NM_014759	NM_014759	NA	Approved	KIAA0273, PAHX-AP	uc003xbj.4	Q92561	OTTHUMG00000163776	ENST00000321613.3:c.690G>A	8.37:g.22079169C>T		NA	D3DSR1|Q8N4I9	37	CCDS43723.1																																																																																			PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375388.1		-	ENST00000321613.3	Silent	SNP	8 : 22079169 - 22079169 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	158	19
MGAT4B	11282	broad.mit.edu	37	5	179227252	179227252	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179227252T>C	ENST00000337755.5	-	6	1658	c.772A>G	c.(772-774)Acc>Gcc	p.T258A	MGAT4B_ENST00000292591.7_Missense_Mutation_p.T243A	NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	243					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCTGTTTGGTCCTCCACCTG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(13;414 434 4098 22176 23230)							NA				0													101	80	87			NA	NA	5		NA											NA				179227252		2203	4300	6503	SO:0001583	missense			AB000624	CCDS4448.1, CCDS4449.1	5q35	2013-02-25	2005-11-16		ENSG00000161013	ENSG00000161013	11282	11282	2.4.1.145	Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases	7048	protein-coding gene	gene with protein product		604561	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B		NA	10372966	Standard	NM_014275	NM_014275	NA	Approved	GnT-Ivb	uc003mks.3	Q9UQ53	OTTHUMG00000130912	ENST00000337755.5:c.772A>G	5.37:g.179227252T>C	ENSP00000338487:p.Thr258Ala	NA	Q86TF1|Q96GH4|Q9NSK6	37	CCDS4449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.6|25.6	4.657724|4.657724	0.88154|0.88154	.|.	.|.	ENSG00000161013|ENSG00000161013	ENST00000518778;ENST00000518980;ENST00000520875;ENST00000518867|ENST00000337755;ENST00000292591;ENST00000523108	.|T;T;T	.|0.44482	.|0.92;0.92;0.92	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69922|0.69922	0.3165|0.3165	M|M	0.90595|0.90595	3.13|3.13	0.80722|0.80722	D|D	1|1	.|D;D;B;P	.|0.76494	.|0.997;0.999;0.087;0.928	.|D;D;B;P	.|0.83275	.|0.994;0.996;0.117;0.554	T|T	0.75972|0.75972	-0.3129|-0.3129	5|10	.|0.49607	.|T	.|0.09	-26.3918|-26.3918	14.5904|14.5904	0.68359|0.68359	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|243;258;98;243	.|Q9UQ53;A8MPR0;E5RFS3;Q9UQ53-2	.|MGT4B_HUMAN;.;.;.	G|A	68;52;41;54|258;243;98	.|ENSP00000338487:T258A;ENSP00000292591:T243A;ENSP00000427995:T98A	.|ENSP00000292591:T243A	D|T	-|-	2|1	0|0	MGAT4B|MGAT4B	179159858|179159858	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	8.003000|8.003000	0.88520|0.88520	1.852000|1.852000	0.53769|0.53769	0.448000|0.448000	0.29417|0.29417	GAC|ACC	MGAT4B-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253504.2		-	ENST00000337755.5	Missense_Mutation	SNP	5 : 179227252 - 179227252 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	750	34
APC2	10297	broad.mit.edu	37	19	1465269	1465269	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1465269G>A	ENST00000535453.1	+	14	3682	c.1969G>A	c.(1969-1971)Gcc>Acc	p.A657T	APC2_ENST00000238483.4_Missense_Mutation_p.A383T|APC2_ENST00000233607.2_Missense_Mutation_p.A657T|C19orf25_ENST00000588427.1_Intron			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	657					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCCGCAGCGCCCGTGACCA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	20	21			NA	NA	19		NA											NA				1465269		2183	4289	6472	SO:0001583	missense				CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266	10297	10297		Armadillo repeat containing	24036	protein-coding gene	gene with protein product	adenomatous polyposis coli like	612034			NA	9823329, 10021369	Standard	NM_005883	XM_005259475	NA	Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.1969G>A	19.37:g.1465269G>A	ENSP00000442954:p.Ala657Thr	NA	Q05BW4|Q9UBZ1|Q9UEM8|Q9UQJ8|Q9UQJ9|Q9Y632	37	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528135	0.27299	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	T;T;T	0.65549	-0.16;0.83;-0.16	4.65	-2.29	0.06805	Armadillo-like helical (1);Armadillo-type fold (1);	0.405928	0.26262	N	0.025385	T	0.43567	0.1253	L	0.27053	0.805	0.80722	D	1	P;P	0.43231	0.801;0.7	B;B	0.31016	0.123;0.058	T	0.48958	-0.8988	10	0.45353	T	0.12	-12.6912	20.324	0.98686	0.0:0.2256:0.7744:0.0	.	656;657	O95996-3;O95996	.;APC2_HUMAN	T	657;383;657	ENSP00000233607:A657T;ENSP00000238483:A383T;ENSP00000442954:A657T	ENSP00000233607:A657T	A	+	1	0	APC2	1416269	0.070000	0.21116	0.532000	0.27989	0.255000	0.26057	-0.266000	0.08631	-0.246000	0.09611	0.462000	0.41574	GCC	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449539.2		+	ENST00000535453.1	Missense_Mutation	SNP	19 : 1465269 - 1465269 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	166	25
ZNF184	7738	broad.mit.edu	37	6	27425127	27425127	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27425127T>C	ENST00000211936.6	-	4	421	c.137A>G	c.(136-138)gAc>gGc	p.D46G	ZNF184_ENST00000377419.1_Missense_Mutation_p.D46G	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CTGGCCAGGGTCCAGCTGTTT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	123	124			NA	NA	6		NA											NA				27425127		2203	4300	6503	SO:0001583	missense			U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654	7738	7738		Zinc fingers, C2H2-type, -	12975	protein-coding gene	gene with protein product		602277	zinc finger protein 184 (Kruppel-like)		NA		Standard	NM_007149	NM_007149	NA	Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.137A>G	6.37:g.27425127T>C	ENSP00000211936:p.Asp46Gly	NA	B2R715|O60792|Q8TBA9	37	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	T	16.16	3.044500	0.55110	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.02606	4.23;4.23	4.69	3.5	0.40072	Krueppel-associated box (4);	0.000000	0.49305	D	0.000141	T	0.01627	0.0052	M	0.62209	1.925	0.37121	D	0.900818	B	0.15141	0.012	B	0.20577	0.03	T	0.34279	-0.9835	10	0.37606	T	0.19	.	9.0704	0.36488	0.1703:0.0:0.0:0.8297	.	46	Q99676	ZN184_HUMAN	G	46	ENSP00000211936:D46G;ENSP00000366636:D46G	ENSP00000211936:D46G	D	-	2	0	ZNF184	27533106	0.981000	0.34729	0.984000	0.44739	0.993000	0.82548	2.128000	0.42045	1.079000	0.41038	0.533000	0.62120	GAC	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040146.1		-	ENST00000211936.6	Missense_Mutation	SNP	6 : 27425127 - 27425127 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	591	119
ABCA13	154664	broad.mit.edu	37	7	48314629	48314629	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48314629A>G	ENST00000435803.1	+	17	5390	c.5366A>G	c.(5365-5367)gAa>gGa	p.E1789G		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1789					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATCACCAAGGAAGACTTCGCA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	47	48			NA	NA	7		NA											NA				48314629		1874	4118	5992	SO:0001583	missense			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869	154664	154664		ATP binding cassette transporters / subfamily A	14638	protein-coding gene	gene with protein product		607807			NA	12697998	Standard	NM_152701	NM_152701	NA	Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.5366A>G	7.37:g.48314629A>G	ENSP00000411096:p.Glu1789Gly	NA	Q6ZTT7|Q86WI2|Q8N248	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	14.68	2.606263	0.46527	.	.	ENSG00000179869	ENST00000435803	T	0.19938	2.11	5.92	4.74	0.60224	.	0.131057	0.34314	N	0.004079	T	0.31734	0.0806	L	0.59436	1.845	0.80722	D	1	D	0.59767	0.986	P	0.53266	0.722	T	0.02365	-1.1170	9	.	.	.	.	11.2484	0.49010	0.8471:0.1529:0.0:0.0	.	1789	Q86UQ4	ABCAD_HUMAN	G	1789	ENSP00000411096:E1789G	.	E	+	2	0	ABCA13	48285175	1.000000	0.71417	1.000000	0.80357	0.197000	0.23852	3.938000	0.56583	1.029000	0.39812	0.455000	0.32223	GAA	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341964.2		+	ENST00000435803.1	Missense_Mutation	SNP	7 : 48314629 - 48314629 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	193	39
TRIM37	4591	broad.mit.edu	37	17	57089767	57089767	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57089767T>G	ENST00000262294.7	-	22	2876	c.2617A>C	c.(2617-2619)Act>Cct	p.T873P	TRIM37_ENST00000393065.2_Missense_Mutation_p.T839P|TRIM37_ENST00000393066.3_Missense_Mutation_p.T873P|TRIM37_ENST00000376149.3_Missense_Mutation_p.T751P	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	873						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCCAAATCAGTCATCTGCAGT	0.373		NA							Mulibrey Nanism					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	84	85			NA	NA	17		NA											NA				57089767		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395	4591	4591		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	7523	protein-coding gene	gene with protein product	RING-B-box-coiled-coil protein	605073	tripartite motif-containing 37	MUL	NA	9106536, 10888877	Standard	NM_015294	NM_015294	NA	Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.2617A>C	17.37:g.57089767T>G	ENSP00000262294:p.Thr873Pro	NA	Q7Z3E6|Q8IYF7|Q8WYF7	37	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	T	10.67	1.416675	0.25552	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.66099	1.58;1.58;-0.19;1.19	6.07	2.57	0.30868	.	0.517276	0.21572	N	0.072381	T	0.38772	0.1053	N	0.19112	0.55	0.09310	N	1	B;B;B	0.30361	0.277;0.0;0.0	B;B;B	0.30943	0.122;0.001;0.0	T	0.22452	-1.0216	10	0.39692	T	0.17	-6.1307	0.8622	0.01195	0.151:0.2499:0.1567:0.4424	.	839;751;873	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	P	873;873;751;839	ENSP00000376785:T873P;ENSP00000262294:T873P;ENSP00000365319:T751P;ENSP00000376784:T839P	ENSP00000262294:T873P	T	-	1	0	TRIM37	54444549	0.014000	0.17966	0.257000	0.24404	0.978000	0.69477	-0.062000	0.11674	0.151000	0.19162	0.533000	0.62120	ACT	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445930.1		-	ENST00000262294.7	Missense_Mutation	SNP	17 : 57089767 - 57089767 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	78
GAPVD1	26130	broad.mit.edu	37	9	128099865	128099865	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128099865G>T	ENST00000470056.1	+	15	3032	c.2872G>T	c.(2872-2874)Gga>Tga	p.G958*	GAPVD1_ENST00000394105.2_Nonsense_Mutation_p.G985*|GAPVD1_ENST00000312123.9_Nonsense_Mutation_p.G937*|GAPVD1_ENST00000495955.1_Nonsense_Mutation_p.G958*|GAPVD1_ENST00000394083.2_Nonsense_Mutation_p.G937*|GAPVD1_ENST00000394104.2_Nonsense_Mutation_p.G958*|GAPVD1_ENST00000265956.4_Nonsense_Mutation_p.G932*|GAPVD1_ENST00000297933.6_Nonsense_Mutation_p.G958*			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	958					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CTCCTCAAGAGGAGAGGTATG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	59	59			NA	NA	9		NA											NA				128099865		2203	4300	6503	SO:0001587	stop_gained				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219	26130	26130			23375	protein-coding gene	gene with protein product		611714			NA		Standard		XM_005251901	NA	Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000470056.1:c.2872G>T	9.37:g.128099865G>T	ENSP00000419767:p.Gly958*	NA	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	43|43|43	10.267773|10.267773|10.267773	0.99371|0.99371|0.99371	.|.|.	.|.|.	ENSG00000165219|ENSG00000165219|ENSG00000165219	ENST00000431329|ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123|ENST00000436712	.|.|.	.|.|.	.|.|.	6.17|6.17|6.17	6.17|6.17|6.17	0.99709|0.99709|0.99709	.|.|.	.|0.047947|.	.|0.85682|.	.|D|.	.|0.000000|.	T|.|T	0.82213|.|0.82213	0.4988|.|0.4988	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|.|T	0.82376|.|0.82376	-0.0488|.|-0.0488	3|.|4	.|0.66056|0.66056	.|D|D	.|0.02|0.02	.|.|.	19.8676|19.8676|19.8676	0.96824|0.96824|0.96824	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	D|X|M	794|958;985;958;932;937;958;958;958;937|794	.|.|.	.|ENSP00000265956:G932X|ENSP00000391251:R794M	E|G|R	+|+|+	3|1|2	2|0|0	GAPVD1|GAPVD1|GAPVD1	127139686|127139686|127139686	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.993000|0.993000|0.993000	0.82548|0.82548|0.82548	7.421000|7.421000|7.421000	0.80204|0.80204|0.80204	2.941000|2.941000|2.941000	0.99782|0.99782|0.99782	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|GGA|AGG	GAPVD1-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000054071.4		+	ENST00000470056.1	Nonsense_Mutation	SNP	9 : 128099865 - 128099865 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	50
GJD4	219770	broad.mit.edu	37	10	35896742	35896742	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35896742G>A	ENST00000321660.1	+	2	459	c.301G>A	c.(301-303)Gcc>Acc	p.A101T	RP11-425A6.5_ENST00000609313.1_RNA	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	101					cell communication	connexon complex|integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GCACCGAGGAGCCACGCTCGC	0.746		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	43	45			NA	NA	10		NA											NA				35896742		2203	4300	6503	SO:0001583	missense			AJ414564	CCDS7191.1	10p11.22	2007-11-27			ENSG00000177291	ENSG00000177291	219770	219770		Ion channels / Gap junction proteins (connexins)	23296	protein-coding gene	gene with protein product	connexin 40.1	611922			NA	12477932	Standard	NM_153368	NM_153368	NA	Approved	CX40.1, FLJ90023	uc001iyy.1	Q96KN9	OTTHUMG00000017957	ENST00000321660.1:c.301G>A	10.37:g.35896742G>A	ENSP00000315070:p.Ala101Thr	NA	Q8N2R7	37	CCDS7191.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.594813	0.46318	.	.	ENSG00000177291	ENST00000321660	D	0.97752	-4.52	6.11	-0.15	0.13416	.	0.885835	0.10230	N	0.699820	D	0.94522	0.8236	L	0.60067	1.865	0.09310	N	1	B	0.32324	0.364	B	0.27170	0.077	D	0.87133	0.2198	10	0.34782	T	0.22	.	4.7058	0.12849	0.2524:0.0:0.5118:0.2359	.	101	Q96KN9	CXD4_HUMAN	T	101	ENSP00000315070:A101T	ENSP00000315070:A101T	A	+	1	0	GJD4	35936748	0.035000	0.19736	0.000000	0.03702	0.013000	0.08279	1.566000	0.36396	-0.280000	0.09154	0.655000	0.94253	GCC	GJD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047576.1		+	ENST00000321660.1	Missense_Mutation	SNP	10 : 35896742 - 35896742 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	401	71
OR10J1	26476	broad.mit.edu	37	1	159410122	159410122	+	Missense_Mutation	SNP	C	C	T	rs143481177		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159410122C>T	ENST00000423932.3	+	1	611	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	192					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CTGTGACATCCGCCCTGTGAT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG	0,4406		0,0,2203	233	210	218		574	2.3	0.7	1	dbSNP_134	218	4,8596	3.7+/-12.6	0,4,4296	yes	missense	OR10J1	NM_012351.2	180	0,4,6499	TT,TC,CC	NA	0.0465,0.0,0.0308	probably-damaging	192/321	159410122	4,13002	2203	4300	6503	SO:0001583	missense			X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184	26476	26476		GPCR / Class A : Olfactory receptors	8175	protein-coding gene	gene with protein product					NA	1370859	Standard	NM_012351	NM_012351	NA	Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.574C>T	1.37:g.159410122C>T	ENSP00000399078:p.Arg192Cys	NA	Q2M1M8|Q5VSV1|Q6IET5|Q96R56	37	CCDS1185.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251879	0.22880	0.0	4.65E-4	ENSG00000196184	ENST00000423932	T	0.00145	8.67	4.18	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	0.197989	0.25222	N	0.032234	T	0.00073	0.0002	L	0.40543	1.245	0.09310	N	0.999991	D	0.76494	0.999	D	0.65140	0.932	T	0.13791	-1.0496	10	0.62326	D	0.03	.	3.8628	0.09004	0.1888:0.6068:0.0:0.2043	.	192	P30954	O10J1_HUMAN	C	192	ENSP00000399078:R192C	ENSP00000399078:R192C	R	+	1	0	OR10J1	157676746	0.000000	0.05858	0.657000	0.29651	0.554000	0.35429	-0.571000	0.05889	0.503000	0.28060	0.650000	0.86243	CGC	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059020.1		+	ENST00000423932.3	Missense_Mutation	SNP	1 : 159410122 - 159410122 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	967	161
PLCE1	51196	broad.mit.edu	37	10	96018655	96018655	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96018655T>C	ENST00000371380.3	+	11	3888	c.3653T>C	c.(3652-3654)tTt>tCt	p.F1218S	PLCE1_ENST00000371375.1_Missense_Mutation_p.F910S|PLCE1_ENST00000260766.3_Missense_Mutation_p.F1218S|PLCE1_ENST00000371385.3_Missense_Mutation_p.F910S			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	NA					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TTTGTTGAATTTGTTGAGCTG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													199	189	192			NA	NA	10		NA											NA				96018655		1911	4129	6040	SO:0001583	missense				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	51196	51196	3.1.4.11		17175	protein-coding gene	gene with protein product	nephrosis type 3	608414			NA	11022047, 11022048	Standard	NM_016341	NM_016341	NA	Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.3653T>C	10.37:g.96018655T>C	ENSP00000360431:p.Phe1218Ser	NA	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	37	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.760881	0.89932	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.82332	0.5014	M	0.62723	1.935	0.53005	D	0.999963	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.998;0.999	D	0.84312	0.0511	10	0.87932	D	0	.	15.8373	0.78808	0.0:0.0:0.0:1.0	.	1202;910;1218	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	S	1218;1218;910;910	ENSP00000260766:F1218S;ENSP00000360431:F1218S;ENSP00000360438:F910S;ENSP00000360426:F910S	ENSP00000260766:F1218S	F	+	2	0	PLCE1	96008645	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	7.622000	0.83099	2.203000	0.70933	0.454000	0.30748	TTT	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049469.3		+	ENST00000371380.3	Missense_Mutation	SNP	10 : 96018655 - 96018655 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	615	115
GJB6	10804	broad.mit.edu	37	13	20797436	20797436	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20797436T>G	ENST00000356192.6	-	5	804	c.184A>C	c.(184-186)Aat>Cat	p.N62H	GJB6_ENST00000400066.3_Missense_Mutation_p.N62H|GJB6_ENST00000400065.3_Missense_Mutation_p.N62H|GJB6_ENST00000241124.6_Missense_Mutation_p.N62H	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	62					cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		TAGCACACATTTTTGCATCCC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	78	86			NA	NA	13		NA											NA				20797436		2203	4300	6503	SO:0001583	missense			AJ005585	CCDS9291.1	13q12	2010-01-06	2007-11-06		ENSG00000121742	ENSG00000121742	NA	10804		Ion channels / Gap junction proteins (connexins)	4288	protein-coding gene	gene with protein product	connexin 30	604418	ectodermal dysplasia 2, hidrotic (Clouston syndrome), gap junction protein, beta 6 (connexin 30), gap junction protein, beta 6	DFNA3, ED2	NA	10471490, 8845850	Standard		NM_006783	NA	Approved	EDH, HED, CX30	uc001und.4	O95452	OTTHUMG00000016515	ENST00000356192.6:c.184A>C	13.37:g.20797436T>G	ENSP00000348521:p.Asn62His	NA	B3KQN2|Q5Q1H9|Q5Q1I0|Q5Q1I1|Q5T5U0|Q8IUP0	37	CCDS9291.1	.	.	.	.	.	.	.	.	.	.	T	15.72	2.916291	0.52546	.	.	ENSG00000121742	ENST00000241124;ENST00000400065;ENST00000400066;ENST00000356192	D;D;D;D	0.99329	-5.75;-5.75;-5.75;-5.75	5.38	5.38	0.77491	Connexin, conserved site (1);Connexin, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99573	0.9846	M	0.94142	3.5	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.97903	1.0304	10	0.87932	D	0	.	15.4199	0.75003	0.0:0.0:0.0:1.0	.	62	O95452	CXB6_HUMAN	H	62	ENSP00000241124:N62H;ENSP00000382938:N62H;ENSP00000382939:N62H;ENSP00000348521:N62H	ENSP00000241124:N62H	N	-	1	0	GJB6	19695436	1.000000	0.71417	0.986000	0.45419	0.025000	0.11179	7.991000	0.88244	2.030000	0.59900	0.533000	0.62120	AAT	GJB6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000272906.1		-	ENST00000356192.6	Missense_Mutation	SNP	13 : 20797436 - 20797436 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	282	7
SNX7	51375	broad.mit.edu	37	1	99161198	99161198	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:99161198A>C	ENST00000306121.3	+	5	773	c.764A>C	c.(763-765)aAc>aCc	p.N255T	SNX7_ENST00000370189.5_Missense_Mutation_p.N191T|SNX7_ENST00000529992.1_Missense_Mutation_p.N200T	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	191					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		GAAATGAATAACTTTATTGAA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	56	53			NA	NA	1		NA											NA				99161198		2203	4300	6503	SO:0001583	missense			AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627	51375	51375		Sorting nexins	14971	protein-coding gene	gene with protein product		614904			NA		Standard		NM_015976	NA	Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.764A>C	1.37:g.99161198A>C	ENSP00000304429:p.Asn255Thr	NA	A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	37	CCDS755.2	.	.	.	.	.	.	.	.	.	.	A	13.57	2.275549	0.40294	.	.	ENSG00000162627	ENST00000370189;ENST00000529992;ENST00000306121	T;T;T	0.21031	2.03;2.03;2.03	5.65	3.29	0.37713	.	0.577696	0.20020	N	0.100928	T	0.04227	0.0117	N	0.14661	0.345	0.27522	N	0.951357	B;B;B	0.31351	0.32;0.217;0.053	B;B;B	0.34991	0.193;0.138;0.062	T	0.40572	-0.9556	10	0.26408	T	0.33	-8.4051	8.6247	0.33881	0.8021:0.1305:0.0674:0.0	.	200;255;191	E9PNL2;Q9UNH6-3;Q9UNH6-2	.;.;.	T	191;200;255	ENSP00000359208:N191T;ENSP00000434731:N200T;ENSP00000304429:N255T	ENSP00000304429:N255T	N	+	2	0	SNX7	98933786	0.991000	0.36638	0.988000	0.46212	0.884000	0.51177	3.117000	0.50407	0.483000	0.27608	-0.323000	0.08544	AAC	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029609.2		+	ENST00000306121.3	Missense_Mutation	SNP	1 : 99161198 - 99161198 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	360	68
NOL10	79954	broad.mit.edu	37	2	10712235	10712235	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10712235G>T	ENST00000345985.3	-	20	1989	c.1879C>A	c.(1879-1881)Ctg>Atg	p.L627M	NOL10_ENST00000381685.5_Missense_Mutation_p.L677M|NOL10_ENST00000542668.1_Missense_Mutation_p.L627M|NOL10_ENST00000538384.1_Missense_Mutation_p.L651M	NM_001261394.1	NP_001248323.1	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	677						nucleolus					NA	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		CTTGACTTCAGGTGTCCGGCC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													280	247	258			NA	NA	2		NA											NA				10712235		2203	4300	6503	SO:0001583	missense			AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761	79954	79954			25862	protein-coding gene	gene with protein product			polyglutamine binding protein 5	PQBP5	NA	12477932	Standard	NM_024894	NM_024894	NA	Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000345985.3:c.1879C>A	2.37:g.10712235G>T	ENSP00000263837:p.Leu627Met	NA	A8K3R5|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	37	CCDS58698.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617780	0.66787	.	.	ENSG00000115761	ENST00000345985;ENST00000381685;ENST00000542668;ENST00000538384	T;T;T;T	0.51071	0.72;1.36;1.36;1.36	5.75	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.65974	0.2743	M	0.74258	2.255	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72075	0.97;0.97;0.976	T	0.67711	-0.5600	10	0.49607	T	0.09	-12.1252	11.6934	0.51529	0.1419:0.0:0.8581:0.0	.	651;677;627	B4DLV0;Q9BSC4;Q9BSC4-2	.;NOL10_HUMAN;.	M	627;677;627;651	ENSP00000263837:L627M;ENSP00000371101:L677M;ENSP00000437625:L627M;ENSP00000439663:L651M	ENSP00000263837:L627M	L	-	1	2	NOL10	10629686	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	2.564000	0.45931	1.420000	0.47138	0.655000	0.94253	CTG	NOL10-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239226.1		-	ENST00000345985.3	Missense_Mutation	SNP	2 : 10712235 - 10712235 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1348	355
TAS1R2	80834	broad.mit.edu	37	1	19166262	19166262	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19166262C>T	ENST00000375371.3	-	6	2372	c.2351G>A	c.(2350-2352)aGc>aAc	p.S784N		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	784					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CAGCACCCCGCTGTAGGCAGA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	92	102			NA	NA	1		NA											NA				19166262		2203	4300	6503	SO:0001583	missense				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002	80834	80834		Taste receptors / Type 1, GPCR / Unclassified : Taste receptors	14905	protein-coding gene	gene with protein product		606226	G protein-coupled receptor 71	GPR71	NA		Standard		NM_152232	NA	Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.2351G>A	1.37:g.19166262C>T	ENSP00000364520:p.Ser784Asn	NA	Q5TZ19	37	CCDS187.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.733088	0.00687	.	.	ENSG00000179002	ENST00000375371	D	0.88124	-2.34	5.06	1.4	0.22301	GPCR, family 3, C-terminal (2);	2.888830	0.01588	N	0.021403	T	0.68559	0.3014	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.61292	-0.7092	10	0.19147	T	0.46	.	6.9083	0.24321	0.0:0.2752:0.0:0.7248	.	784	Q8TE23	TS1R2_HUMAN	N	784	ENSP00000364520:S784N	ENSP00000364520:S784N	S	-	2	0	TAS1R2	19038849	0.000000	0.05858	0.001000	0.08648	0.081000	0.17604	0.137000	0.15995	0.002000	0.14630	-1.750000	0.00680	AGC	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006953.1		-	ENST00000375371.3	Missense_Mutation	SNP	1 : 19166262 - 19166262 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	199	33
CYBRD1	79901	broad.mit.edu	37	2	172411148	172411148	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:172411148G>A	ENST00000321348.4	+	4	870	c.672G>A	c.(670-672)tgG>tgA	p.W224*	CYBRD1_ENST00000409484.1_Nonsense_Mutation_p.W166*|CYBRD1_ENST00000375252.3_Missense_Mutation_p.E155K	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	224					cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						GACCGCAATGGAAACGTCCTA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	89	91			NA	NA	2		NA											NA				172411148		2203	4300	6503	SO:0001587	stop_gained			AK027115	CCDS2244.1, CCDS46449.1, CCDS58736.1	2q31	2013-03-14			ENSG00000071967	ENSG00000071967	79901	79901		Cytochrome b genes	20797	protein-coding gene	gene with protein product	ferric-chelate reductase 3, cytochrome b561 family, member A2	605745			NA	11230685	Standard	NM_024843	NM_001127383	NA	Approved	DCYTB, FLJ23462, FRRS3, CYB561A2	uc002ugy.4	Q53TN4	OTTHUMG00000132260	ENST00000321348.4:c.672G>A	2.37:g.172411148G>A	ENSP00000319141:p.Trp224*	NA	B2RE79|Q6KC16|Q6KC17|Q6P147|Q9H0Q8|Q9H5G5	37	CCDS2244.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.230925|4.230925	0.79688|0.79688	.|.	.|.	ENSG00000071967|ENSG00000071967	ENST00000375252|ENST00000409484;ENST00000321348	.|.	.|.	.|.	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.46580|.	0.1400|.	.|.	.|.	.|.	0.38973|0.38973	D|D	0.958784|0.958784	D|.	0.63046|.	0.992|.	P|.	0.61592|.	0.891|.	T|.	0.40496|.	-0.9560|.	7|.	0.87932|0.02654	D|T	0|1	-0.5167|-0.5167	18.6553|18.6553	0.91450|0.91450	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	155|.	Q53TN4-2|.	.|.	K|X	155|166;224	.|.	ENSP00000364401:E155K|ENSP00000319141:W224X	E|W	+|+	1|3	0|0	CYBRD1|CYBRD1	172119394|172119394	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	8.495000|8.495000	0.90481|0.90481	2.405000|2.405000	0.81733|0.81733	0.655000|0.655000	0.94253|0.94253	GAA|TGG	CYBRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255344.2		+	ENST00000321348.4	Nonsense_Mutation	SNP	2 : 172411148 - 172411148 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	271	70
ITIH5	80760	broad.mit.edu	37	10	7682790	7682790	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7682790C>T	ENST00000256861.6	-	4	406	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.E110K|ITIH5_ENST00000397145.2_Missense_Mutation_p.E110K	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	110	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TCTGTAATTTCGCCCTGATAC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													226	219	221			NA	NA	10		NA											NA				7682790		2203	4300	6503	SO:0001583	missense					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243	80760	80760			21449	protein-coding gene	gene with protein product		609783	inter-alpha (globulin) inhibitor H5		NA	14744536	Standard	NM_030569	NM_001001851	NA	Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.328G>A	10.37:g.7682790C>T	ENSP00000256861:p.Glu110Lys	NA	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	37		.	.	.	.	.	.	.	.	.	.	C	17.14	3.313441	0.60414	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000397145	T;T;T	0.24350	1.86;1.86;1.86	5.71	4.81	0.61882	Vault protein inter-alpha-trypsin (2);	0.416738	0.28853	N	0.013929	T	0.17916	0.0430	.	.	.	0.42695	D	0.993593	P;P	0.46656	0.574;0.882	B;B	0.36289	0.036;0.221	T	0.02167	-1.1202	9	0.34782	T	0.22	-30.6759	12.0934	0.53739	0.0:0.9198:0.0:0.0802	.	110;110	G5E9D8;Q86UX2	.;ITIH5_HUMAN	K	110	ENSP00000256861:E110K;ENSP00000380333:E110K;ENSP00000380332:E110K	ENSP00000256861:E110K	E	-	1	0	ITIH5	7722796	0.998000	0.40836	0.999000	0.59377	0.777000	0.43975	3.418000	0.52721	2.678000	0.91216	0.563000	0.77884	GAA	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000046688.1		-	ENST00000256861.6	Missense_Mutation	SNP	10 : 7682790 - 7682790 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	846	108
STAB2	55576	broad.mit.edu	37	12	104122724	104122724	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104122724C>T	ENST00000388887.2	+	48	5237	c.5033C>T	c.(5032-5034)tCa>tTa	p.S1678L		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1678	FAS1 5.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AAATTGATCTCAAATGCTACT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	113	118			NA	NA	12		NA											NA				104122724		2203	4300	6503	SO:0001583	missense			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011	55576	55576			18629	protein-coding gene	gene with protein product	hyaluronic acid receptor for endocytosis	608561			NA	11829752, 12077138	Standard		XR_429107	NA	Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5033C>T	12.37:g.104122724C>T	ENSP00000373539:p.Ser1678Leu	NA	Q6ZMK2|Q7Z5N9|Q86UR4|Q8IUG9|Q8TES1|Q9H7H7|Q9NRY3	37	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	6.402	0.442319	0.12164	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.90732	-2.72	5.56	5.56	0.83823	FAS1 domain (5);	0.497392	0.20561	N	0.089907	D	0.83917	0.5358	N	0.19112	0.55	0.09310	N	1	B	0.21821	0.061	B	0.25614	0.062	T	0.71699	-0.4514	10	0.30078	T	0.28	.	13.868	0.63600	0.1534:0.8466:0.0:0.0	.	1678	Q8WWQ8	STAB2_HUMAN	L	1678;365	ENSP00000373539:S1678L	ENSP00000258495:S365L	S	+	2	0	STAB2	102646854	0.221000	0.23642	0.037000	0.18230	0.012000	0.07955	2.099000	0.41767	2.595000	0.87683	0.655000	0.94253	TCA	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407089.1		+	ENST00000388887.2	Missense_Mutation	SNP	12 : 104122724 - 104122724 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	501	78
KRT33A	3883	broad.mit.edu	37	17	39503321	39503321	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39503321C>T	ENST00000007735.3	-	4	786	c.742G>A	c.(742-744)Gcc>Acc	p.A248T		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	248	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				ACCTGCGTGGCGAACCATTGC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	59	61			NA	NA	17		NA											NA				39503321		2203	4296	6499	SO:0001583	missense			Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059	3883	3883		-, Intermediate filaments type I, keratins (acidic)	6450	protein-coding gene	gene with protein product	hard keratin type I 3I	602761	keratin, hair, acidic, 3A	KRTHA3A	NA	7565656, 16831889	Standard	NM_004138	NM_004138	NA	Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.742G>A	17.37:g.39503321C>T	ENSP00000007735:p.Ala248Thr	NA	B2RA87|Q6NTB9|Q6ZZB9	37	CCDS11388.1	.	.	.	.	.	.	.	.	.	.	C	1.714	-0.498453	0.04291	.	.	ENSG00000006059	ENST00000007735	D	0.88741	-2.42	4.41	-0.427	0.12310	Filament (1);	0.385342	0.25264	N	0.031925	T	0.65037	0.2653	N	0.01505	-0.83	0.28797	N	0.898975	B	0.06786	0.001	B	0.06405	0.002	T	0.57423	-0.7814	10	0.17369	T	0.5	.	5.9195	0.19073	0.0:0.3508:0.1481:0.5011	.	248	O76009	KT33A_HUMAN	T	248	ENSP00000007735:A248T	ENSP00000007735:A248T	A	-	1	0	KRT33A	36756847	0.000000	0.05858	0.695000	0.30226	0.567000	0.35839	-1.415000	0.02469	-0.209000	0.10156	-0.471000	0.05019	GCC	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257295.1		-	ENST00000007735.3	Missense_Mutation	SNP	17 : 39503321 - 39503321 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	555	42
SEMA5B	54437	broad.mit.edu	37	3	122629748	122629748	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122629748T>C	ENST00000357599.3	-	22	3622	c.3236A>G	c.(3235-3237)cAt>cGt	p.H1079R	SEMA5B_ENST00000195173.4_3'UTR|SEMA5B_ENST00000451055.2_Missense_Mutation_p.H1133R	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	1079					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GTAGTGCAAATGGTTGGGGGT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	91	92			NA	NA	3		NA											NA				122629748		2203	4300	6503	SO:0001583	missense			AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684	54437	54437		Semaphorins	10737	protein-coding gene	gene with protein product		609298		SEMAG	NA	8817451	Standard	NM_001031702	NM_001256346	NA	Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.3236A>G	3.37:g.122629748T>C	ENSP00000350215:p.His1079Arg	NA	A8K5U2|Q6DD89|Q6UY12|Q9NW17	37	CCDS35491.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.0|21.0	4.088454|4.088454	0.76756|0.76756	.|.	.|.	ENSG00000082684|ENSG00000082684	ENST00000357599;ENST00000418793;ENST00000451055;ENST00000393583|ENST00000451541	T;T;T|.	0.33865|.	1.39;1.45;1.48|.	4.86|4.86	4.86|4.86	0.63082|0.63082	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.52256|0.52256	0.1723|0.1723	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	D;D|.	0.59357|.	0.982;0.985|.	P;P|.	0.59889|.	0.865;0.84|.	T|T	0.49273|0.49273	-0.8957|-0.8957	10|5	0.15066|.	T|.	0.55|.	.|.	13.7969|13.7969	0.63177|0.63177	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	985;1079|.	D3YTI7;Q9P283|.	.;SEM5B_HUMAN|.	R|V	1079;985;1133;1079|125	ENSP00000350215:H1079R;ENSP00000389588:H1133R;ENSP00000377208:H1079R|.	ENSP00000350215:H1079R|.	H|I	-|-	2|1	0|0	SEMA5B|SEMA5B	124112438|124112438	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	7.309000|7.309000	0.78937|0.78937	2.043000|2.043000	0.60533|0.60533	0.533000|0.533000	0.62120|0.62120	CAT|ATT	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277165.1		-	ENST00000357599.3	Missense_Mutation	SNP	3 : 122629748 - 122629748 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	537	35
SDF4	51150	broad.mit.edu	37	1	1153037	1153037	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1153037G>A	ENST00000360001.6	-	7	1206	c.944C>T	c.(943-945)gCg>gTg	p.A315V	SDF4_ENST00000263741.7_3'UTR			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	315	EF-hand 6.|Necessary for intracellular retention in Golgi apparatus lumen (By similarity).				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		CTCGTTCAGCGCGTTGTACTC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	147	146			NA	NA	1		NA											NA				1153037		2203	4300	6503	SO:0001583	missense				CCDS12.1, CCDS30553.1	1p36.33	2013-01-10			ENSG00000078808	ENSG00000078808	51150	51150		EF-hand domain containing	24188	protein-coding gene	gene with protein product	calcium binding protein	614282			NA	9254016, 8609160	Standard	NM_016176	NM_016176	NA	Approved	Cab45	uc001adh.4	Q9BRK5	OTTHUMG00000001812	ENST00000360001.6:c.944C>T	1.37:g.1153037G>A	ENSP00000353094:p.Ala315Val	NA	B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53	37	CCDS30553.1	.	.	.	.	.	.	.	.	.	.	g	36	5.899314	0.97081	.	.	ENSG00000078808	ENST00000360001	T	0.09073	3.02	5.33	5.33	0.75918	EF-hand-like domain (1);	0.050815	0.85682	D	0.000000	T	0.30386	0.0763	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	T	0.01858	-1.1259	10	0.87932	D	0	-28.0616	18.0268	0.89271	0.0:0.0:1.0:0.0	.	315	Q9BRK5	CAB45_HUMAN	V	315	ENSP00000353094:A315V	ENSP00000353094:A315V	A	-	2	0	SDF4	1142900	1.000000	0.71417	0.999000	0.59377	0.915000	0.54546	9.440000	0.97547	2.498000	0.84270	0.479000	0.44913	GCG	SDF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005064.1		-	ENST00000360001.6	Missense_Mutation	SNP	1 : 1153037 - 1153037 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	697	131
GLRA3	8001	broad.mit.edu	37	4	175636706	175636706	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:175636706A>C	ENST00000274093.3	-	5	1009	c.507T>G	c.(505-507)ctT>ctG	p.L169L	GLRA3_ENST00000340217.5_Silent_p.L169L	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	169					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	TTGGACAGGAAAGTGTTAATG	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	75	74			NA	NA	4		NA											NA				175636706		2203	4293	6496	SO:0001819	synonymous_variant			AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451	8001	8001		Ligand-gated ion channels / Glycine receptors	4328	protein-coding gene	gene with protein product		600421			NA	9677400	Standard		NM_001042543	NA	Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.507T>G	4.37:g.175636706A>C		NA	D3DP44|O75816|Q5D0E3	37	CCDS3822.1																																																																																			GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313427.1		-	ENST00000274093.3	Silent	SNP	4 : 175636706 - 175636706 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	338	75
BRINP1	1620	broad.mit.edu	37	9	121929970	121929970	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:121929970A>T	ENST00000265922.3	-	8	2139	c.1678T>A	c.(1678-1680)Ttc>Atc	p.F560I	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2			bone morphogenetic protein/retinoic acid inducible neural-specific 1	560											NA						TAGACAAAGAACATGGGGTCC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	41	42			NA	NA	9		NA											NA				121929970		2203	4299	6502	SO:0001583	missense			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725	1620	1620			2687	protein-coding gene	gene with protein product		602865	deleted in bladder cancer chromosome region candidate 1, deleted in bladder cancer 1	DBCCR1, DBC1	NA	9175739, 10444335, 15193422	Standard	NM_014618	NM_014618	NA	Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1678T>A	9.37:g.121929970A>T	ENSP00000265922:p.Phe560Ile	NA		37	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	A	15.93	2.977209	0.53720	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.12984	2.63	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.24699	0.0599	L	0.40543	1.245	0.80722	D	1	D	0.54601	0.967	P	0.60789	0.879	T	0.02184	-1.1199	10	0.19147	T	0.46	-23.7966	15.8802	0.79197	1.0:0.0:0.0:0.0	.	560	O60477	DBC1_HUMAN	I	560	ENSP00000265922:F560I	ENSP00000265922:F560I	F	-	1	0	DBC1	120969791	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.199000	0.65152	2.145000	0.66743	0.533000	0.62120	TTC	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055440.2		-	ENST00000265922.3	Missense_Mutation	SNP	9 : 121929970 - 121929970 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	295	18
CORIN	10699	broad.mit.edu	37	4	47788906	47788906	+	Translation_Start_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47788906C>T	ENST00000508498.1	-	0	76				CORIN_ENST00000505909.1_Missense_Mutation_p.S82N|CORIN_ENST00000273857.4_Missense_Mutation_p.S82N|CORIN_ENST00000502252.1_Intron|CORIN_ENST00000504584.1_Missense_Mutation_p.S82N			Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	NA					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CAAAGGTTCACTCCCATTTGA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	65	67			NA	NA	4		NA											NA				47788906		2203	4300	6503					AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244	10699	10699		Serine peptidases / Transmembrane	19012	protein-coding gene	gene with protein product		605236	corin, serine protease		NA	10329693	Standard		NM_006587	NA	Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000508498.1:c.-173G>A	4.37:g.47788906C>T		NA	B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	37		.	.	.	.	.	.	.	.	.	.	C	12.28	1.889134	0.33348	.	.	ENSG00000145244	ENST00000273857;ENST00000505909;ENST00000504584	D;D;D	0.93712	-2.74;-2.65;-3.27	4.78	3.93	0.45458	.	0.273464	0.34628	N	0.003803	D	0.89389	0.6701	N	0.20986	0.625	0.32522	N	0.53616	P;P;P	0.48764	0.915;0.888;0.627	B;P;B	0.47102	0.397;0.537;0.196	D	0.91141	0.4945	10	0.62326	D	0.03	.	11.2784	0.49180	0.0:0.8161:0.1839:0.0	.	82;82;82	B7Z4R1;B4E2W9;Q9Y5Q5	.;.;CORIN_HUMAN	N	82	ENSP00000273857:S82N;ENSP00000425401:S82N;ENSP00000423216:S82N	ENSP00000273857:S82N	S	-	2	0	CORIN	47483663	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	2.087000	0.41653	1.385000	0.46445	0.558000	0.71614	AGT	CORIN-009	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000361679.1		-	ENST00000508498.1	De_novo_Start_OutOfFrame	SNP	4 : 47788906 - 47788906 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	190	35
DNAH9	1770	broad.mit.edu	37	17	11535968	11535968	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11535968C>T	ENST00000454412.2	+	8	1583	c.1583C>T	c.(1582-1584)aCt>aTt	p.T528I	DNAH9_ENST00000262442.4_Missense_Mutation_p.T528I			Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	528	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGATTGGGGACTATCTTTATT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	121	123			NA	NA	17		NA											NA				11535968		2203	4300	6503	SO:0001583	missense			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174	1770	1770		Axonemal dyneins	2953	protein-coding gene	gene with protein product		603330	dynein, axonemal, heavy polypeptide 17-like, dynein, axonemal, heavy polypeptide 9	DNAH17L	NA	8812413, 11247663	Standard	NM_001372	NM_001372	NA	Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000454412.2:c.1583C>T	17.37:g.11535968C>T	ENSP00000414874:p.Thr528Ile	NA	O15064|O95494|Q9NQ28	37		.	.	.	.	.	.	.	.	.	.	C	12.84	2.058066	0.36277	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.57273	0.41;0.41	5.18	4.0	0.46444	Dynein heavy chain, domain-1 (1);	2.959590	0.01254	N	0.008973	T	0.64659	0.2618	M	0.63843	1.955	0.31554	N	0.658352	P	0.49090	0.919	P	0.49597	0.616	T	0.57318	-0.7832	10	0.72032	D	0.01	.	11.5811	0.50891	0.0:0.899:0.0:0.101	.	528	Q9NYC9	DYH9_HUMAN	I	528	ENSP00000262442:T528I;ENSP00000414874:T528I	ENSP00000262442:T528I	T	+	2	0	DNAH9	11476693	0.612000	0.27000	0.775000	0.31657	0.083000	0.17756	3.276000	0.51646	2.427000	0.82271	0.650000	0.86243	ACT	DNAH9-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000252758.4		+	ENST00000454412.2	Missense_Mutation	SNP	17 : 11535968 - 11535968 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	599	95
FEZF1	389549	broad.mit.edu	37	7	121944232	121944232	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121944232T>C	ENST00000442488.2	-	1	327	c.260A>G	c.(259-261)aAg>aGg	p.K87R	FEZF1_ENST00000427185.2_Missense_Mutation_p.K87R|FEZF1_ENST00000331178.4_Missense_Mutation_p.K87R|FEZF1-AS1_ENST00000428449.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	87					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CACTCCTGCCTTGGGGCTCGT	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	32	33			NA	NA	7		NA											NA				121944232		2202	4299	6501	SO:0001583	missense			AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610	389549	389549		Zinc fingers, C2H2-type	22788	protein-coding gene	gene with protein product		613301	zinc finger protein 312B	ZNF312B	NA		Standard	NM_001024613	NM_001024613	NA	Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.260A>G	7.37:g.121944232T>C	ENSP00000411145:p.Lys87Arg	NA	A0PJY3|A4D0W3|B4DUP9|B7ZM98	37	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	T	14.29	2.492179	0.44352	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.11277	2.88;3.0;2.79	4.65	4.65	0.58169	.	0.052252	0.85682	D	0.000000	T	0.11580	0.0282	L	0.47016	1.485	0.36552	D	0.871937	B;B	0.30146	0.176;0.27	B;B	0.25291	0.026;0.059	T	0.10019	-1.0648	10	0.72032	D	0.01	-15.3977	13.6885	0.62531	0.0:0.0:0.0:1.0	.	87;87	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	R	87	ENSP00000411145:K87R;ENSP00000332777:K87R;ENSP00000392727:K87R	ENSP00000332777:K87R	K	-	2	0	FEZF1	121731468	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	5.049000	0.64244	2.069000	0.61940	0.454000	0.30748	AAG	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347410.1		-	ENST00000442488.2	Missense_Mutation	SNP	7 : 121944232 - 121944232 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	228	35
PAN2	9924	broad.mit.edu	37	12	56722398	56722398	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56722398C>A	ENST00000425394.2	-	3	686	c.310G>T	c.(310-312)Gcc>Tcc	p.A104S	PAN2_ENST00000440411.3_Missense_Mutation_p.A104S|PAN2_ENST00000548043.1_Missense_Mutation_p.A104S|PAN2_ENST00000257931.5_Missense_Mutation_p.A104S	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit	104					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CGCTCCAAGGCTGGGCCAAAA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	53	53			NA	NA	12		NA											NA				56722398		2203	4300	6503	SO:0001583	missense			AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473	9924	9924		Ubiquitin-specific peptidases	20074	protein-coding gene	gene with protein product	PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)		ubiquitin specific protease 52, ubiquitin specific peptidase 52, PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	USP52	NA	12838346, 14583602	Standard	NM_014871	NM_014871	NA	Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.310G>T	12.37:g.56722398C>A	ENSP00000401721:p.Ala104Ser	NA	O75189|Q76E12|Q8IVE1	37	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569189	0.28003	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.07	2.28	0.28536	WD40 repeat-like-containing domain (1);	0.360372	0.31612	N	0.007360	T	0.16128	0.0388	N	0.04090	-0.28	0.33195	D	0.551396	B;B;B	0.16802	0.019;0.019;0.011	B;B;B	0.15870	0.014;0.014;0.006	T	0.35649	-0.9780	10	0.02654	T	1	-4.814	9.5316	0.39198	0.0:0.766:0.0:0.234	.	104;104;104	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	S	104	ENSP00000401721:A104S;ENSP00000388231:A104S;ENSP00000257931:A104S;ENSP00000449861:A104S	ENSP00000257931:A104S	A	-	1	0	PAN2	55008665	0.789000	0.28775	0.937000	0.37676	0.963000	0.63663	1.324000	0.33712	0.419000	0.25927	0.650000	0.86243	GCC	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409024.1		-	ENST00000425394.2	Missense_Mutation	SNP	12 : 56722398 - 56722398 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	259	48
ATP7B	540	broad.mit.edu	37	13	52524499	52524499	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52524499G>A	ENST00000242839.4	-	10	2640	c.2484C>T	c.(2482-2484)ggC>ggT	p.G828G	ATP7B_ENST00000418097.2_Silent_p.G828G|ATP7B_ENST00000448424.2_Silent_p.G750G|ATP7B_ENST00000344297.5_Silent_p.G666G|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000417240.2_Silent_p.G100G|ATP7B_ENST00000400366.3_Silent_p.G717G	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	828					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		TGACGATATCGCCCCGCTGCA	0.567		NA							Wilson disease					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	78	76			NA	NA	13		NA											NA				52524499		2145	4254	6399	SO:0001819	synonymous_variant	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	540	540	3.6.3.4	ATPases / P-type	870	protein-coding gene	gene with protein product	Wilson disease, copper pump 2, copper-transporting ATPase 2	606882	ATPase, Cu++ transporting, beta polypeptide (Wilson disease)	WND	NA	8298641, 8298639	Standard	NM_000053	NM_000053	NA	Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.2484C>T	13.37:g.52524499G>A		NA	Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	37	CCDS41892.1																																																																																			ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045981.1		-	ENST00000242839.4	Silent	SNP	13 : 52524499 - 52524499 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	321	52
SLC25A47	283600	broad.mit.edu	37	14	100795904	100795904	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100795904C>A	ENST00000361529.3	+	6	927	c.849C>A	c.(847-849)tgC>tgA	p.C283*	SLC25A47_ENST00000557052.1_Nonsense_Mutation_p.C137*	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	283					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						TCAATTGCTGCCGCGCCTTCC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(11;1289 1351)							NA				0													81	89	86			NA	NA	14		NA											NA				100795904		2203	4300	6503	SO:0001587	stop_gained				CCDS9959.1	14q32.2	2013-05-22	2010-07-19	2010-07-19	ENSG00000140107	ENSG00000140107	283600	283600		Solute carriers	20115	protein-coding gene	gene with protein product		609911	chromosome 14 open reading frame 68	C14orf68	NA		Standard		NM_207117	NA	Approved		uc001yhc.3	Q6Q0C1	OTTHUMG00000171571	ENST00000361529.3:c.849C>A	14.37:g.100795904C>A	ENSP00000354886:p.Cys283*	NA	B2RP39|Q68CL2|Q6PZD8|Q86U14	37	CCDS9959.1	.	.	.	.	.	.	.	.	.	.	C	39	7.452438	0.98292	.	.	ENSG00000140107	ENST00000361529;ENST00000557052	.	.	.	5.38	2.03	0.26663	.	0.227225	0.46758	D	0.000265	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	0.2138	8.0378	0.30504	0.0:0.609:0.1141:0.2769	.	.	.	.	X	283;137	.	ENSP00000354886:C283X	C	+	3	2	SLC25A47	99865657	0.104000	0.21937	0.998000	0.56505	0.722000	0.41435	-0.563000	0.05943	0.619000	0.30197	0.555000	0.69702	TGC	SLC25A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414231.1		+	ENST00000361529.3	Nonsense_Mutation	SNP	14 : 100795904 - 100795904 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	846	160
ANXA6	309	broad.mit.edu	37	5	150497386	150497386	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150497386G>A	ENST00000354546.5	-	19	1678	c.1451C>T	c.(1450-1452)tCc>tTc	p.S484F	ANXA6_ENST00000521512.1_Missense_Mutation_p.S277F|ANXA6_ENST00000523714.1_Missense_Mutation_p.S452F|ANXA6_ENST00000356496.5_Missense_Mutation_p.S484F|ANXA6_ENST00000377751.5_Missense_Mutation_p.S141F	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	484						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCCTCCAGGGACTTGTGATA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	52	51			NA	NA	5		NA											NA				150497386		1941	4132	6073	SO:0001583	missense			J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043	309	309		Annexins	544	protein-coding gene	gene with protein product		114070		ANX6	NA	3258820	Standard	NM_001155	NM_001155	NA	Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.1451C>T	5.37:g.150497386G>A	ENSP00000346550:p.Ser484Phe	NA	D3DQH4|Q6ZT79	37	CCDS47315.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.899076	0.72754	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000377751;ENST00000356496;ENST00000521512;ENST00000540153	T;T;T;T;T	0.04275	3.66;3.66;3.66;3.66;3.66	5.25	5.25	0.73442	Annexin repeat, conserved site (1);	0.181657	0.48286	D	0.000185	T	0.33352	0.0860	H	0.95260	3.645	0.58432	D	0.999995	D;D;D	0.89917	1.0;0.995;0.991	D;P;P	0.72338	0.977;0.869;0.908	T	0.51284	-0.8725	10	0.87932	D	0	.	17.6098	0.88049	0.0:0.0:1.0:0.0	.	277;484;484	E5RK69;A6NN80;P08133	.;.;ANXA6_HUMAN	F	484;452;141;484;277;358	ENSP00000346550:S484F;ENSP00000430517:S452F;ENSP00000366980:S141F;ENSP00000348889:S484F;ENSP00000430420:S277F	ENSP00000346550:S484F	S	-	2	0	ANXA6	150477579	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.204000	0.51082	2.438000	0.82558	0.561000	0.74099	TCC	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377668.2		-	ENST00000354546.5	Missense_Mutation	SNP	5 : 150497386 - 150497386 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	161	31
UBE4B	10277	broad.mit.edu	37	1	10205050	10205050	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10205050G>A	ENST00000343090.6	+	18	2491	c.2416G>A	c.(2416-2418)Gca>Aca	p.A806T	UBE4B_ENST00000253251.8_Missense_Mutation_p.A677T|UBE4B_ENST00000377157.3_Missense_Mutation_p.A561T	NM_001105562.2	NP_001099032.1	O95155	UBE4B_HUMAN	ubiquitination factor E4B	806					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TTCCCCACTGGCAACTAGACA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	73	74			NA	NA	1		NA											NA				10205050		2203	4300	6503	SO:0001583	missense			AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939	10277	10277		U-box domain containing	12500	protein-coding gene	gene with protein product		613565	ubiquitination factor E4B (homologous to yeast UFD2), ubiquitination factor E4B (UFD2 homolog, yeast)		NA	9734811, 10089879	Standard	NM_006048	NM_006048	NA	Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000343090.6:c.2416G>A	1.37:g.10205050G>A	ENSP00000343001:p.Ala806Thr	NA	O75169|O95338|Q5SZ12|Q5SZ16|Q96QD4|Q9BYI7	37	CCDS41245.1	.	.	.	.	.	.	.	.	.	.	G	36	5.958480	0.97145	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.50548	0.74;0.74;0.76	5.83	5.83	0.93111	Ubiquitin conjugation factor E4, core (1);	0.000000	0.85682	D	0.000000	T	0.74772	0.3760	M	0.86420	2.815	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.75484	0.986;0.977;0.975	T	0.77178	-0.2683	10	0.59425	D	0.04	-15.8352	20.1047	0.97888	0.0:0.0:1.0:0.0	.	677;806;677	A8K8S9;O95155;O95155-2	.;UBE4B_HUMAN;.	T	677;561;806	ENSP00000253251:A677T;ENSP00000366362:A561T;ENSP00000343001:A806T	ENSP00000253251:A677T	A	+	1	0	UBE4B	10127637	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.183000	0.94887	2.762000	0.94881	0.655000	0.94253	GCA	UBE4B-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005016.1		+	ENST00000343090.6	Missense_Mutation	SNP	1 : 10205050 - 10205050 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	244	20
BRCA2	675	broad.mit.edu	37	13	32914727	32914727	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32914727G>A	ENST00000380152.3	+	11	6468	c.6235G>A	c.(6235-6237)Gtg>Atg	p.V2079M	BRCA2_ENST00000544455.1_Missense_Mutation_p.V2079M			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2079					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGTTAAGGGAGTGTTAGAGGA	0.343		NA	D, Mis, N, F, S		breast, ovarian, pancreatic	breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		L, E	0													64	66	65			NA	NA	13		NA											NA				32914727		2203	4298	6501	SO:0001583	missense	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618	675	675		Fanconi anemia, complementation groups	1101	protein-coding gene	gene with protein product	BRCA1/BRCA2-containing complex, subunit 2	600185	Fanconi anemia, complementation group D1	FANCD1, FACD, FANCD	NA	8091231, 7581463, 15057823	Standard	NM_000059	NM_000059	NA	Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.6235G>A	13.37:g.32914727G>A	ENSP00000369497:p.Val2079Met	NA	O00183|O15008|Q13879|Q5TBJ7	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	0.092	-1.165768	0.01673	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.75260	-0.92;-0.92	5.77	3.39	0.38822	.	0.200919	0.45606	N	0.000349	T	0.40247	0.1109	N	0.02539	-0.55	0.28309	N	0.922762	B	0.02656	0.0	B	0.06405	0.002	T	0.37888	-0.9686	10	0.02654	T	1	.	6.3144	0.21182	0.7241:0.1349:0.141:0.0	.	2079	P51587	BRCA2_HUMAN	M	2079	ENSP00000369497:V2079M;ENSP00000439902:V2079M	ENSP00000369497:V2079M	V	+	1	0	BRCA2	31812727	0.973000	0.33851	1.000000	0.80357	0.778000	0.44026	0.733000	0.26087	1.024000	0.39682	-0.312000	0.09012	GTG	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046000.2		+	ENST00000380152.3	Missense_Mutation	SNP	13 : 32914727 - 32914727 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	465	66
SATB2	23314	broad.mit.edu	37	2	200173513	200173513	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200173513G>A	ENST00000443023.1	-	9	2998	c.1533C>T	c.(1531-1533)caC>caT	p.H511H	SATB2_ENST00000457245.1_Silent_p.H570H|SATB2_ENST00000260926.5_Silent_p.H570H|SATB2_ENST00000428695.1_Silent_p.H452H|SATB2_ENST00000417098.1_Silent_p.H570H			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	570						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	p.H570H(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GCTGGACCACGTGTTGCATGC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(30;262 767 11040 24421 36230)							NA				2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)											162	133	143			NA	NA	2		NA											NA				200173513		2203	4300	6503	SO:0001819	synonymous_variant			AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042	23314	23314		Homeoboxes / CUT class	21637	protein-coding gene	gene with protein product		608148	SATB family member 2		NA		Standard	NM_015265	NM_015265	NA	Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000443023.1:c.1533C>T	2.37:g.200173513G>A		NA	A8K5Z8|Q4V763	37																																																																																				SATB2-012	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000340208.1		-	ENST00000443023.1	Silent	SNP	2 : 200173513 - 200173513 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	747	125
CNBP	7555	broad.mit.edu	37	3	128890570	128890570	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128890570G>A	ENST00000422453.2	-	2	191	c.31C>T	c.(31-33)Cga>Tga	p.R11*	CNBP_ENST00000451728.2_Nonsense_Mutation_p.R11*|CNBP_ENST00000502976.1_Nonsense_Mutation_p.R11*|CNBP_ENST00000500450.2_Nonsense_Mutation_p.R11*|CNBP_ENST00000441626.2_Nonsense_Mutation_p.R11*|CNBP_ENST00000504813.1_Nonsense_Mutation_p.R11*|CNBP_ENST00000446936.2_Nonsense_Mutation_p.R11*	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	11					cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						TGGCCAGATCGTCCACACTTG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	49	49			NA	NA	3		NA											NA				128890570		2203	4300	6503	SO:0001587	stop_gained			U19765	CCDS3056.1, CCDS46906.1, CCDS46907.1, CCDS46908.1, CCDS54637.1	3q21	2013-01-09	2006-06-29	2006-06-29			7555	7555		RING-type (C3HC4) zinc fingers, Zinc fingers, CCHC domain containing	13164	protein-coding gene	gene with protein product		116955	zinc finger protein 9 (a cellular retroviral nucleic acid binding protein), zinc finger protein 9	DM2, ZNF9	NA	2249857, 11486088	Standard	NM_003418	NM_003418	NA	Approved	RNF163, ZCCHC22, CNBP1	uc021xdw.1	P62633		ENST00000422453.2:c.31C>T	3.37:g.128890570G>A	ENSP00000410619:p.Arg11*	NA	B2RAV9|D3DNB9|D3DNC0|D3DNC1|P20694|Q5QJR0|Q6PJI7|Q96NV3	37	CCDS3056.1	.	.	.	.	.	.	.	.	.	.	G	37	6.241875	0.97403	.	.	ENSG00000169714	ENST00000502976;ENST00000422453;ENST00000451728;ENST00000446936;ENST00000500450;ENST00000504813;ENST00000441626;ENST00000512338	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.6404	0.88135	0.0:0.0:1.0:0.0	.	.	.	.	X	11	.	ENSP00000410619:R11X	R	-	1	2	CNBP	130373260	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.254000	0.72460	2.779000	0.95612	0.591000	0.81541	CGA	CNBP-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358419.1		-	ENST00000422453.2	Nonsense_Mutation	SNP	3 : 128890570 - 128890570 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	193	51
SLC4A5	57835	broad.mit.edu	37	2	74491312	74491312	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74491312C>T	ENST00000394019.2	-	10	1074	c.677G>A	c.(676-678)cGc>cAc	p.R226H	SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000359484.4_Missense_Mutation_p.R162H|SLC4A5_ENST00000357822.5_Missense_Mutation_p.R226H|SLC4A5_ENST00000423644.1_Missense_Mutation_p.R226H|SLC4A5_ENST00000377634.4_Missense_Mutation_p.R226H|SLC4A5_ENST00000358683.4_Missense_Mutation_p.R162H|SLC4A5_ENST00000377632.1_Missense_Mutation_p.R226H|SLC4A5_ENST00000346834.4_Missense_Mutation_p.R226H|RP11-287D1.3_ENST00000451608.2_3'UTR	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	226						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGCTAAGGAGCGGTGGATGGG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	145	154			NA	NA	2		NA											NA				74491312		2203	4300	6503	SO:0001583	missense			AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687	57835	57835		Solute carriers	18168	protein-coding gene	gene with protein product		606757	solute carrier family 4, sodium bicarbonate cotransporter, member 5		NA	10978526, 11087115	Standard		NM_133478	NA	Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000394019.2:c.677G>A	2.37:g.74491312C>T	ENSP00000377587:p.Arg226His	NA	Q32MA7|Q59EQ9|Q8WXD3|Q8WXD7|Q96DS7|Q96DS8|Q9HBU5	37	CCDS1937.1	.	.	.	.	.	.	.	.	.	.	C	34	5.385575	0.95967	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249;ENST00000432728	T;T;T;T;T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	4.83	4.83	0.62350	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.83538	0.5276	M	0.87900	2.915	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.988;1.0;1.0;1.0;0.997	D	0.85509	0.1196	10	0.54805	T	0.06	.	15.8121	0.78573	0.0:1.0:0.0:0.0	.	226;226;162;226;226	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	H	226;226;226;162;226;162;226;226;226;226;110	ENSP00000377587:R226H;ENSP00000251768:R226H;ENSP00000352461:R162H;ENSP00000395804:R226H;ENSP00000351513:R162H;ENSP00000350475:R226H;ENSP00000366859:R226H;ENSP00000366861:R226H;ENSP00000405678:R226H;ENSP00000414162:R110H	ENSP00000251768:R226H	R	-	2	0	SLC4A5	74344820	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.629000	0.83207	2.648000	0.89879	0.655000	0.94253	CGC	SLC4A5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206584.2		-	ENST00000394019.2	Missense_Mutation	SNP	2 : 74491312 - 74491312 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	299	59
PCDHB5	26167	broad.mit.edu	37	5	140516480	140516480	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140516480G>A	ENST00000231134.5	+	1	1681	c.1464G>A	c.(1462-1464)tcG>tcA	p.S488S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	488	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCACCTACTCGCTGCTGCCGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	101	101			NA	NA	5		NA											NA				140516480		2203	4300	6503	SO:0001819	synonymous_variant			AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209	26167	26167		Cadherins / Protocadherins : Clustered	8690	other	protocadherin		606331			NA	10380929	Standard	NM_015669	NM_015669	NA	Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1464G>A	5.37:g.140516480G>A		NA	Q549F4|Q9UFU9	37	CCDS4247.1																																																																																			PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251811.1		+	ENST00000231134.5	Silent	SNP	5 : 140516480 - 140516480 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1292	236
POU4F2	5458	broad.mit.edu	37	4	147561405	147561405	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:147561405G>T	ENST00000281321.3	+	2	923	c.675G>T	c.(673-675)atG>atT	p.M225I		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	225					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					TGGCCACCATGAACCCCATGC	0.726		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	4		NA											NA				147561405		2193	4289	6482	SO:0001583	missense			U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13				5458	5458		Homeoboxes / POU class	9219	protein-coding gene	gene with protein product		113725	POU domain, class 4, transcription factor 2, POU domain class 4, transcription factor 2	BRN3B	NA	8332509	Standard	NM_004575	NM_004575	NA	Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.675G>T	4.37:g.147561405G>T	ENSP00000281321:p.Met225Ile	NA	B1PJR6|B2RC84|Q13883|Q14987	37	CCDS34074.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163240	0.38217	.	.	ENSG00000151615	ENST00000281321	D	0.82984	-1.67	5.52	5.52	0.82312	.	0.689044	0.16201	N	0.224911	T	0.74473	0.3721	N	0.19112	0.55	0.58432	D	0.999999	B	0.15719	0.014	B	0.14578	0.011	T	0.66697	-0.5858	10	0.21014	T	0.42	.	19.057	0.93069	0.0:0.0:1.0:0.0	.	225	Q12837	PO4F2_HUMAN	I	225	ENSP00000281321:M225I	ENSP00000281321:M225I	M	+	3	0	POU4F2	147780855	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.035000	0.57297	2.609000	0.88269	0.462000	0.41574	ATG	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367020.1		+	ENST00000281321.3	Missense_Mutation	SNP	4 : 147561405 - 147561405 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	115	26
RPL35	11224	broad.mit.edu	37	9	127620235	127620235	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127620235G>A	ENST00000348462.3	-	4	382	c.334C>T	c.(334-336)Cgg>Tgg	p.R112W	RPL35_ENST00000373570.4_3'UTR	NM_007209.3	NP_009140.1	P42766	RL35_HUMAN	ribosomal protein L35	112					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome			breast(1)|large_intestine(1)|lung(1)|ovary(1)	4				GBM - Glioblastoma multiforme(294;0.182)		GGGTACAGCCGCTCCTTCCGC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	42	44			NA	NA	9		NA											NA				127620235		2202	4300	6502	SO:0001583	missense			U12465	CCDS6858.1	9q34.1	2011-04-06			ENSG00000136942	ENSG00000136942	11224	11224		L ribosomal proteins	10344	protein-coding gene	gene with protein product	60S ribosomal protein L35				NA	11401437	Standard	NM_007209	NM_007209	NA	Approved	L35	uc004boy.1	P42766	OTTHUMG00000020659	ENST00000348462.3:c.334C>T	9.37:g.127620235G>A	ENSP00000259469:p.Arg112Trp	NA	A8K4V7|Q4VBY5|Q5JTN5|Q6IBC7|Q96QJ7|Q9BYF4	37	CCDS6858.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057092	0.76074	.	.	ENSG00000136942	ENST00000348462	.	.	.	5.76	5.76	0.90799	.	0.157858	0.56097	N	0.000023	T	0.64800	0.2631	L	0.49778	1.585	0.80722	D	1	B	0.11235	0.004	B	0.10450	0.005	T	0.58278	-0.7664	9	0.45353	T	0.12	.	19.3119	0.94192	0.0:0.0:1.0:0.0	.	112	P42766	RL35_HUMAN	W	112	.	ENSP00000259469:R112W	R	-	1	2	RPL35	126660056	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	5.313000	0.65798	2.882000	0.98803	0.655000	0.94253	CGG	RPL35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054035.1		-	ENST00000348462.3	Missense_Mutation	SNP	9 : 127620235 - 127620235 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	360	56
CUL7	9820	broad.mit.edu	37	6	43006104	43006104	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43006104C>A	ENST00000265348.3	-	25	4759	c.4674G>T	c.(4672-4674)caG>caT	p.Q1558H	CUL7_ENST00000535468.1_Missense_Mutation_p.Q1642H			Q14999	CUL7_HUMAN	cullin 7	1558					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCTCCAAGTTCTGGCCGTCTT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	110	117			NA	NA	6		NA											NA				43006104		2203	4300	6503	SO:0001583	missense			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090	9820	9820			21024	protein-coding gene	gene with protein product		609577	KIAA0076	KIAA0076	NA	12481031, 12904573	Standard	NM_014780	NM_014780	NA	Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.4674G>T	6.37:g.43006104C>A	ENSP00000265348:p.Gln1558His	NA	Q5T654	37	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.191752	0.38707	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.79141	-1.24;-1.24	5.29	1.42	0.22433	.	0.268668	0.34932	N	0.003570	T	0.32285	0.0824	N	0.08118	0	0.09310	N	1	B;B;B;B	0.30709	0.25;0.291;0.162;0.0	B;B;B;B	0.30401	0.115;0.054;0.054;0.0	T	0.17501	-1.0367	10	0.54805	T	0.06	-10.2372	2.5613	0.04772	0.1212:0.4429:0.2375:0.1984	.	1642;1558;1642;1558	F5H0L1;A8K9U1;B4DYZ0;Q14999	.;.;.;CUL7_HUMAN	H	1558;1642	ENSP00000265348:Q1558H;ENSP00000438788:Q1642H	ENSP00000265348:Q1558H	Q	-	3	2	CUL7	43114082	0.010000	0.17322	0.997000	0.53966	0.959000	0.62525	-0.314000	0.08092	0.592000	0.29728	0.655000	0.94253	CAG	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040575.1		-	ENST00000265348.3	Missense_Mutation	SNP	6 : 43006104 - 43006104 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	62
GRN	2896	broad.mit.edu	37	17	42429421	42429421	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42429421G>T	ENST00000589265.1	+	7	784	c.747G>T	c.(745-747)caG>caT	p.Q249H	GRN_ENST00000053867.3_Missense_Mutation_p.Q406H			P28799	GRN_HUMAN	granulin	406					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCTGCCCCCAGGGCTACACGT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	47	46			NA	NA	17		NA											NA				42429421		2203	4300	6503	SO:0001583	missense			M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582	2896	2896			4601	protein-coding gene	gene with protein product	progranulin	138945			NA	1417868, 9826678	Standard	NM_002087	XM_005257253	NA	Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000589265.1:c.747G>T	17.37:g.42429421G>T	ENSP00000467616:p.Gln249His	NA	D3DX55|P23781|P23782|P23783|P23784|Q53Y88|Q540U8|Q9BWE7|Q9UCH0	37		.	.	.	.	.	.	.	.	.	.	G	11.31	1.601522	0.28534	.	.	ENSG00000030582	ENST00000053867;ENST00000393566	T	0.71817	-0.6	4.98	-1.24	0.09435	Granulin (3);	1.020460	0.07832	N	0.961501	T	0.44685	0.1305	N	0.05608	-0.01	0.28734	N	0.90234	B;B	0.11235	0.001;0.004	B;B	0.14023	0.003;0.01	T	0.32666	-0.9898	10	0.36615	T	0.2	-0.6967	3.0421	0.06141	0.0868:0.1987:0.3692:0.3453	.	343;406	B4DJI2;P28799	.;GRN_HUMAN	H	406;226	ENSP00000053867:Q406H	ENSP00000053867:Q406H	Q	+	3	2	GRN	39784947	0.000000	0.05858	0.987000	0.45799	0.942000	0.58702	-0.586000	0.05787	0.123000	0.18342	0.561000	0.74099	CAG	GRN-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000457775.1		+	ENST00000589265.1	Missense_Mutation	SNP	17 : 42429421 - 42429421 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	398	65
ZNF264	9422	broad.mit.edu	37	19	57722984	57722984	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57722984G>T	ENST00000263095.6	+	4	933	c.519G>T	c.(517-519)caG>caT	p.Q173H	ZNF264_ENST00000536056.1_Missense_Mutation_p.Q173H	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		GGATTGGACAGGAGCAAGTCT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	94	98			NA	NA	19		NA											NA				57722984		2203	4300	6503	SO:0001583	missense			AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844	NA	9422		Zinc fingers, C2H2-type, -	13057	protein-coding gene	gene with protein product		604668			NA	9455477	Standard		NM_003417	NA	Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.519G>T	19.37:g.57722984G>T	ENSP00000263095:p.Gln173His	NA	A8K8Y9|Q9P1V0	37	CCDS33127.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.898262	0.33535	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.28069	1.63;1.63	2.35	1.19	0.21007	.	.	.	.	.	T	0.13114	0.0318	N	0.10664	0.02	0.25288	N	0.98938	P	0.36438	0.553	B	0.38712	0.28	T	0.18808	-1.0325	9	0.02654	T	1	.	7.8941	0.29695	0.1559:0.0:0.8441:0.0	.	173	O43296	ZN264_HUMAN	H	173	ENSP00000263095:Q173H;ENSP00000440376:Q173H	ENSP00000263095:Q173H	Q	+	3	2	ZNF264	62414796	0.001000	0.12720	0.005000	0.12908	0.043000	0.13939	-0.111000	0.10807	0.461000	0.27071	-0.378000	0.06908	CAG	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465080.1		+	ENST00000263095.6	Missense_Mutation	SNP	19 : 57722984 - 57722984 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	311	64
NEDD1	121441	broad.mit.edu	37	12	97303532	97303532	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:97303532G>A	ENST00000557644.1	+	2	162	c.16G>A	c.(16-18)Gca>Aca	p.A6T	NEDD1_ENST00000266742.4_5'UTR|NEDD1_ENST00000411739.2_Intron|NEDD1_ENST00000555114.1_Intron|NEDD1_ENST00000429527.2_5'UTR	NM_001135175.1	NP_001128647.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	0					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						ATTTGTAGGCGCAGTCATGCA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	71	72			NA	NA	12		NA											NA				97303532		2203	4300	6503	SO:0001583	missense				CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350	121441	121441		WD repeat domain containing	7723	protein-coding gene	gene with protein product		600372			NA		Standard		NM_001135175	NA	Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000557644.1:c.16G>A	12.37:g.97303532G>A	ENSP00000451211:p.Ala6Thr	NA	B0AZN0|Q8NA30	37	CCDS44955.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727406	0.69074	.	.	ENSG00000139350	ENST00000554226;ENST00000557644	T;T	0.48836	1.07;0.8	5.46	3.28	0.37604	.	.	.	.	.	T	0.34861	0.0912	L	0.41236	1.265	0.80722	D	1	B	0.22346	0.068	B	0.21546	0.035	T	0.14839	-1.0458	9	0.52906	T	0.07	.	4.6055	0.12376	0.071:0.1276:0.4372:0.3641	.	6	G3V3F1	.	T	6	ENSP00000450881:A6T;ENSP00000451211:A6T	ENSP00000407964:A6T	A	+	1	0	NEDD1	95827663	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	1.710000	0.37920	0.433000	0.26313	0.561000	0.74099	GCA	NEDD1-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409803.1		+	ENST00000557644.1	Missense_Mutation	SNP	12 : 97303532 - 97303532 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	62
USP32	84669	broad.mit.edu	37	17	58286188	58286188	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58286188G>A	ENST00000300896.4	-	23	2794	c.2600C>T	c.(2599-2601)gCc>gTc	p.A867V	USP32_ENST00000592339.1_Splice_Site_p.A537V	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	867					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			GTTGTCCCAGGCCTAGCAATA	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	65	64			NA	NA	17		NA											NA				58286188		2203	4299	6502	SO:0001630	splice_region_variant			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832	84669	84669		Ubiquitin-specific peptidases, EF-hand domain containing	19143	protein-coding gene	gene with protein product		607740	ubiquitin specific protease 32		NA	12838346	Standard	NM_032582	NM_032582	NA	Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.2599-1C>T	17.37:g.58286188G>A		NA	Q9BX85|Q9Y591	37	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	G	34	5.323071	0.95708	.	.	ENSG00000170832	ENST00000300896	T	0.31247	1.5	5.78	5.78	0.91487	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.52917	0.1764	L	0.49778	1.585	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.47586	-0.9106	10	0.56958	D	0.05	.	20.0027	0.97425	0.0:0.0:1.0:0.0	.	867	Q8NFA0	UBP32_HUMAN	V	867	ENSP00000300896:A867V	ENSP00000300896:A867V	A	-	2	0	USP32	55640970	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.807000	0.99171	2.733000	0.93635	0.655000	0.94253	GCC	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449235.2	Missense_Mutation	-	ENST00000300896.4	Splice_Site	SNP	17 : 58286188 - 58286188 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	350	54
EXOC3L4	91828	broad.mit.edu	37	14	103566837	103566837	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103566837G>A	ENST00000380069.3	+	1	357	c.281G>A	c.(280-282)gGc>gAc	p.G94D		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	94										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						CTGAATGACGGCCCAGCTACC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	21	21			NA	NA	14		NA											NA				103566837		2203	4298	6501	SO:0001583	missense			AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436	91828	91828			20120	protein-coding gene	gene with protein product			chromosome 14 open reading frame 73	C14orf73	NA		Standard	XM_941093	NM_001077594	NA	Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.281G>A	14.37:g.103566837G>A	ENSP00000369409:p.Gly94Asp	NA	Q14CR2	37	CCDS32163.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.827958	0.50845	.	.	ENSG00000205436	ENST00000380069	T	0.05258	3.47	3.06	3.06	0.35304	.	0.089659	0.41938	D	0.000782	T	0.07908	0.0198	L	0.36672	1.1	0.09310	N	1	D	0.54207	0.965	P	0.51016	0.656	T	0.28202	-1.0051	10	0.15066	T	0.55	-17.8304	9.8635	0.41129	0.0:0.0:1.0:0.0	.	94	Q17RC7	EX3L4_HUMAN	D	94	ENSP00000369409:G94D	ENSP00000369409:G94D	G	+	2	0	EXOC3L4	102636590	0.018000	0.18449	0.005000	0.12908	0.078000	0.17371	2.402000	0.44521	2.017000	0.59298	0.462000	0.41574	GGC	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415663.1		+	ENST00000380069.3	Missense_Mutation	SNP	14 : 103566837 - 103566837 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	150	37
TAOK2	9344	broad.mit.edu	37	16	29999166	29999166	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29999166C>T	ENST00000308893.4	+	16	4616	c.3573C>T	c.(3571-3573)ccC>ccT	p.P1191P	TAOK2_ENST00000416441.2_Silent_p.P1018P|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_Silent_p.P1078P	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1191					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GTGAACGGCCCACCCGAATCC	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	17	17			NA	NA	16		NA											NA				29999166		2195	4294	6489	SO:0001819	synonymous_variant			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930	9344	9344			16835	protein-coding gene	gene with protein product		613199			NA	10048485, 9786855	Standard	NM_016151	NM_016151	NA	Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.3573C>T	16.37:g.29999166C>T		NA	A5PKY1|A7MCZ2|B2RN35|O94957|Q6UW73|Q7LC09|Q9NSW2	37	CCDS10663.1																																																																																			TAOK2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255152.2		+	ENST00000308893.4	Silent	SNP	16 : 29999166 - 29999166 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	182	34
RAI1	10743	broad.mit.edu	37	17	17701060	17701060	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17701060C>T	ENST00000353383.1	+	3	5267	c.4798C>T	c.(4798-4800)Cgg>Tgg	p.R1600W	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1600						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		ACCCTTCGTGCGGGTGGAGAA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	94	91			NA	NA	17		NA											NA				17701060		2203	4300	6503	SO:0001583	missense			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557	10743	10743			9834	protein-coding gene	gene with protein product		607642	Smith-Magenis syndrome chromosome region	SMCR	NA	10036180	Standard	NM_030665	NM_030665	NA	Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.4798C>T	17.37:g.17701060C>T	ENSP00000323074:p.Arg1600Trp	NA	Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	37	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395284	0.62066	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000315321	T	0.70164	-0.46	4.56	4.56	0.56223	.	0.198489	0.35615	N	0.003089	T	0.76328	0.3972	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.67548	0.952	T	0.79200	-0.1901	10	0.72032	D	0.01	.	17.1098	0.86672	0.0:1.0:0.0:0.0	.	1600	Q7Z5J4	RAI1_HUMAN	W	1600;1600;1488	ENSP00000323074:R1600W	ENSP00000322928:R1488W	R	+	1	2	RAI1	17641785	0.997000	0.39634	1.000000	0.80357	0.754000	0.42855	3.915000	0.56409	2.387000	0.81309	0.561000	0.74099	CGG	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131775.1		+	ENST00000353383.1	Missense_Mutation	SNP	17 : 17701060 - 17701060 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	978	156
ZP4	57829	broad.mit.edu	37	1	238050750	238050750	+	Missense_Mutation	SNP	G	G	A	rs140243550	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:238050750G>A	ENST00000366570.4	-	5	823	c.665C>T	c.(664-666)gCg>gTg	p.A222V	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	222	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.A222V(1)|p.A222G(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGGGTTACACGCACTGTCATT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(166;160 2029 11600 18754 19936)							NA				2	Substitution - Missense(2)	ovary(1)|endometrium(1)											172	160	164			NA	NA	1		NA											NA				238050750		2203	4300	6503	SO:0001583	missense			U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996	57829	57829		Zona pellucida glycoproteins	15770	protein-coding gene	gene with protein product		613514			NA	7841460	Standard		NM_021186	NA	Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.665C>T	1.37:g.238050750G>A	ENSP00000355529:p.Ala222Val	NA	B2RAE1	37	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	G	3.074	-0.190522	0.06299	.	.	ENSG00000116996	ENST00000366570	D	0.82433	-1.61	4.93	-8.3	0.01005	Zona pellucida sperm-binding protein (3);	1.364050	0.04810	N	0.435104	T	0.61837	0.2379	N	0.16368	0.405	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.48854	-0.8998	10	0.31617	T	0.26	-0.9556	0.9693	0.01412	0.2043:0.2773:0.3177:0.2008	.	222	Q12836	ZP4_HUMAN	V	222	ENSP00000355529:A222V	ENSP00000355529:A222V	A	-	2	0	ZP4	236117373	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.928000	0.01560	-1.824000	0.01209	-2.892000	0.00095	GCG	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095476.1		-	ENST00000366570.4	Missense_Mutation	SNP	1 : 238050750 - 238050750 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	553	142
UGCG	7357	broad.mit.edu	37	9	114693625	114693625	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114693625C>T	ENST00000374279.3	+	7	1262	c.812C>T	c.(811-813)tCc>tTc	p.S271F		NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	271					epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	CAGTTTCAATCCAGAATGATC	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	93	93			NA	NA	9		NA											NA				114693625		2203	4300	6503	SO:0001583	missense			D50840	CCDS6782.1	9q31	2014-03-13			ENSG00000148154	ENSG00000148154	7357	7357	2.4.1.80	Glycosyltransferase family 2 domain containing	12524	protein-coding gene	gene with protein product	glucosylceramide synthase, ceramide glucosyltransferase	602874			NA	8643456, 9605861	Standard	NM_003358	NM_003358	NA	Approved	GCS	uc004bft.3	Q16739	OTTHUMG00000020498	ENST00000374279.3:c.812C>T	9.37:g.114693625C>T	ENSP00000363397:p.Ser271Phe	NA	Q5T258	37	CCDS6782.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879392	0.91740	.	.	ENSG00000148154	ENST00000374279	T	0.59638	0.25	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.69753	0.3146	L	0.48642	1.525	0.80722	D	1	D	0.56035	0.974	P	0.59889	0.865	T	0.68383	-0.5423	10	0.56958	D	0.05	.	20.4192	0.99033	0.0:1.0:0.0:0.0	.	271	Q16739	CEGT_HUMAN	F	271	ENSP00000363397:S271F	ENSP00000363397:S271F	S	+	2	0	UGCG	113733446	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.800000	0.62524	2.831000	0.97527	0.650000	0.86243	TCC	UGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053661.1		+	ENST00000374279.3	Missense_Mutation	SNP	9 : 114693625 - 114693625 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	200	29
CCM2	83605	broad.mit.edu	37	7	45113169	45113169	+	Splice_Site	SNP	C	C	T	rs11552375		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45113169C>T	ENST00000475551.1	+	8	1656	c.896C>T	c.(895-897)aCg>aTg	p.T299M	CCM2_ENST00000541586.1_Splice_Site_p.T247M|CCM2_ENST00000258781.6_Splice_Site_p.T305M|CCM2_ENST00000544363.1_Splice_Site_p.T214M|CCM2_ENST00000474617.1_Splice_Site_p.T208M|CCM2_ENST00000381112.3_Splice_Site_p.T326M|CCM2_ENST00000461377.1_3'UTR			Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	305					endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding			NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TACATGCTGACGGTAGGCCTC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	44	48			NA	NA	7		NA											NA				45113169		2203	4300	6503	SO:0001630	splice_region_variant			BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280	83605	83605			21708	protein-coding gene	gene with protein product	malcavernin	607929	chromosome 7 open reading frame 22	C7orf22	NA	9811928	Standard	NM_031443	NM_001029835	NA	Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000475551.1:c.897+1C>T	7.37:g.45113169C>T		NA	A4D2L4|D3DVL4|Q71RE5|Q8TAT4	37		.	.	.	.	.	.	.	.	.	.	C	28.6	4.931964	0.92389	.	.	ENSG00000136280	ENST00000258781;ENST00000541586;ENST00000544363;ENST00000475551;ENST00000381112;ENST00000474617	T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88	5.57	5.57	0.84162	.	0.049950	0.85682	D	0.000000	T	0.67097	0.2857	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;P;D	0.83275	0.984;0.977;0.882;0.996	T	0.68303	-0.5444	10	0.52906	T	0.07	-11.7598	18.1184	0.89563	0.0:1.0:0.0:0.0	.	326;214;247;305	E9PDJ3;F5H0E1;F5H551;Q9BSQ5	.;.;.;CCM2_HUMAN	M	305;247;214;299;326;208	ENSP00000258781:T305M;ENSP00000444725:T247M;ENSP00000438035:T214M;ENSP00000417180:T299M;ENSP00000370503:T326M;ENSP00000419474:T208M	ENSP00000258781:T305M	T	+	2	0	CCM2	45079694	1.000000	0.71417	0.998000	0.56505	0.900000	0.52787	7.470000	0.80973	2.622000	0.88805	0.655000	0.94253	ACG	CCM2-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000353675.1	Missense_Mutation	+	ENST00000475551.1	Splice_Site	SNP	7 : 45113169 - 45113169 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	166	35
ATP12A	479	broad.mit.edu	37	13	25268581	25268581	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25268581G>T	ENST00000381946.3	+	11	1544		c.e11-1		ATP12A_ENST00000218548.6_Splice_Site			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	NA					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TTGATTCCCAGAAAGCTGTGA	0.403		NA									OREG0022298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(156;1582 1935 18898 22665 26498)							NA				0													105	114	111			NA	NA	13		NA											NA				25268581		2203	4300	6503	SO:0001630	splice_region_variant			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	479	479	3.6.3.10	ATPases / P-type	13816	protein-coding gene	gene with protein product	ATPase, Na+K+ transporting, alpha-1 polypeptide-like, potassium-transporting ATPase alpha chain 2, proton pump, non-gastric H(+)/K(+) ATPase alpha subunit, sodium/potassium ATPase, alpha polypeptide-like	182360	ATPase, Na+/K+ transporting, alpha polypeptide-like 1	ATP1AL1	NA	8838794, 2842249	Standard	NM_001676	NM_001676	NA	Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1378-1G>T	13.37:g.25268581G>T		777	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	37	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768356	0.69878	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0052	0.86391	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP12A	24166581	1.000000	0.71417	0.963000	0.40424	0.755000	0.42902	9.199000	0.95003	2.620000	0.88729	0.563000	0.77884	.	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044199.1	Intron	+	ENST00000381946.3	Splice_Site	SNP	13 : 25268581 - 25268581 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	858	125
NCKAP5	344148	broad.mit.edu	37	2	133543008	133543008	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133543008C>T	ENST00000409261.1	-	14	1749	c.1376G>A	c.(1375-1377)aGc>aAc	p.S459N	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S459N|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	459							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTTGCAGGGGCTCCCCAGGTC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	54	54			NA	NA	2		NA											NA				133543008		1878	4102	5980	SO:0001583	missense			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771	344148	344148			29847	protein-coding gene	gene with protein product	Nck associated protein 5, peripheral clock protein	608789			NA	9344857	Standard	NM_207481	NM_207363	NA	Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.1376G>A	2.37:g.133543008C>T	ENSP00000387128:p.Ser459Asn	NA	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	37	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	c	9.912	1.209740	0.22289	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.10573	2.86;2.86	5.38	2.4	0.29515	.	0.181563	0.24942	U	0.034373	T	0.12178	0.0296	L	0.27053	0.805	0.19775	N	0.999957	D	0.58620	0.983	P	0.51453	0.67	T	0.08006	-1.0743	10	0.59425	D	0.04	.	10.4977	0.44788	0.1449:0.4593:0.3958:0.0	.	459	O14513	NCKP5_HUMAN	N	459	ENSP00000387128:S459N;ENSP00000380603:S459N	ENSP00000380603:S459N	S	-	2	0	NCKAP5	133259478	0.002000	0.14202	0.482000	0.27366	0.139000	0.21198	0.826000	0.27407	0.305000	0.22832	0.645000	0.84053	AGC	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331663.1		-	ENST00000409261.1	Missense_Mutation	SNP	2 : 133543008 - 133543008 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	279	21
PRICKLE2	166336	broad.mit.edu	37	3	64085191	64085191	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:64085191G>A	ENST00000295902.6	-	8	2656	c.2071C>T	c.(2071-2073)Cga>Tga	p.R691*	PRICKLE2_ENST00000564377.1_Nonsense_Mutation_p.R747*|PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	691	Arg-rich.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CGAGAGCGTCGGGAACGCCTG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	47	46			NA	NA	3		NA											NA				64085191		2203	4300	6503	SO:0001587	stop_gained			AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637	166336	166336			20340	protein-coding gene	gene with protein product		608501	prickle-like 2 (Drosophila)		NA	12525887	Standard	NM_198859	NM_198859	NA	Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2071C>T	3.37:g.64085191G>A	ENSP00000295902:p.Arg691*	NA	Q0VF44	37	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	G	44	10.967131	0.99496	.	.	ENSG00000163637	ENST00000295902	.	.	.	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.1652	13.9143	0.63887	0.0:0.0:0.7261:0.2739	.	.	.	.	X	691	.	ENSP00000295902:R691X	R	-	1	2	PRICKLE2	64060231	1.000000	0.71417	0.525000	0.27900	0.919000	0.55068	2.830000	0.48136	2.651000	0.90000	0.591000	0.81541	CGA	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352219.1		-	ENST00000295902.6	Nonsense_Mutation	SNP	3 : 64085191 - 64085191 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	483	95
PCNT	5116	broad.mit.edu	37	21	47769052	47769052	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47769052C>T	ENST00000359568.5	+	7	1266	c.1159C>T	c.(1159-1161)Cag>Tag	p.Q387*	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	387	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ATTGGCAGAACAGAGAGCTGA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	124	123			NA	NA	21		NA											NA				47769052		2203	4300	6503	SO:0001587	stop_gained			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299	5116	5116			16068	protein-coding gene	gene with protein product	kendrin, Seckel syndrome 4	605925	pericentrin 2 (kendrin)	PCNT2	NA	8812505, 9455477	Standard	NM_006031	NM_006031	NA	Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.1159C>T	21.37:g.47769052C>T	ENSP00000352572:p.Gln387*	NA	O43152|Q7Z7C9	37	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	37	6.425935	0.97555	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	13.0807	0.59112	0.0:0.8266:0.1734:0.0	.	.	.	.	X	387;374	.	ENSP00000338675:Q374X	Q	+	1	0	PCNT	46593480	0.997000	0.39634	1.000000	0.80357	0.868000	0.49771	3.357000	0.52277	2.630000	0.89119	0.558000	0.71614	CAG	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207336.1		+	ENST00000359568.5	Nonsense_Mutation	SNP	21 : 47769052 - 47769052 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	699	59
SIPA1L1	26037	broad.mit.edu	37	14	72165840	72165840	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:72165840G>A	ENST00000358550.2	+	11	4467	c.3517G>A	c.(3517-3519)Gaa>Aaa	p.E1173K	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.E648K|SIPA1L1_ENST00000555818.1_Missense_Mutation_p.E1173K|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E1173K	NM_001284246.1	NP_001271175.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1173					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GTCCATGCCCGAAGGGTAGTT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	105	105			NA	NA	14		NA											NA				72165840		2203	4300	6503	SO:0001583	missense			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555	26037	26037			20284	protein-coding gene	gene with protein product					NA	9858596	Standard	NM_015556	XM_005267514	NA	Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000358550.2:c.3517G>A	14.37:g.72165840G>A	ENSP00000351352:p.Glu1173Lys	NA	O95321|Q9UDU4|Q9UNU4	37		.	.	.	.	.	.	.	.	.	.	G	12.10	1.835268	0.32421	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.58	4.7	0.59300	.	0.047490	0.85682	D	0.000000	T	0.40862	0.1134	L	0.42245	1.32	0.58432	D	0.999997	B;P;B;P;B	0.38370	0.276;0.628;0.343;0.525;0.011	B;B;B;B;B	0.23018	0.043;0.039;0.042;0.043;0.002	T	0.45556	-0.9253	10	0.72032	D	0.01	-19.5596	14.4261	0.67218	0.0706:0.0:0.9294:0.0	.	648;1173;648;1173;1173	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	K	1173;1173;1173;648	ENSP00000370630:E1173K;ENSP00000450832:E1173K;ENSP00000351352:E1173K;ENSP00000440682:E648K	ENSP00000351352:E1173K	E	+	1	0	SIPA1L1	71235593	1.000000	0.71417	0.964000	0.40570	0.075000	0.17131	6.778000	0.75043	1.379000	0.46325	-0.251000	0.11542	GAA	SIPA1L1-001	NOVEL	NAGNAG_splice_site|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000412807.1		+	ENST00000358550.2	Missense_Mutation	SNP	14 : 72165840 - 72165840 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	66
TMX4	56255	broad.mit.edu	37	20	7963222	7963222	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:7963222C>A	ENST00000246024.2	-	8	941	c.726G>T	c.(724-726)caG>caT	p.Q242H		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	242	Glu-rich.				cell redox homeostasis|electron transport chain|transport	integral to membrane				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						cctcCGCATCCTGCAACTGTT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	64	70			NA	NA	20		NA											NA				7963222		2203	4300	6503	SO:0001583	missense				CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827	56255	56255		Protein disulfide isomerases	25237	protein-coding gene	gene with protein product	protein disulfide isomerase family A, member 14		thioredoxin domain containing 13	TXNDC13	NA		Standard	NM_021156	NM_021156	NA	Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.726G>T	20.37:g.7963222C>A	ENSP00000246024:p.Gln242His	NA	Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	37	CCDS13101.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583302	0.46006	.	.	ENSG00000125827	ENST00000246024	T	0.11495	2.77	5.84	4.71	0.59529	.	0.572613	0.17713	N	0.164518	T	0.12603	0.0306	M	0.63428	1.95	0.31062	N	0.71406	P	0.37864	0.61	B	0.34873	0.191	T	0.03545	-1.1026	10	0.49607	T	0.09	-3.9684	10.6879	0.45854	0.0:0.9007:0.0:0.0993	.	242	Q9H1E5	TMX4_HUMAN	H	242	ENSP00000246024:Q242H	ENSP00000246024:Q242H	Q	-	3	2	TMX4	7911222	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	2.100000	0.41777	2.763000	0.94921	0.557000	0.71058	CAG	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077928.2		-	ENST00000246024.2	Missense_Mutation	SNP	20 : 7963222 - 7963222 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	242	48
USP31	57478	broad.mit.edu	37	16	23080093	23080093	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23080093C>T	ENST00000219689.7	-	16	3332	c.3333G>A	c.(3331-3333)tcG>tcA	p.S1111S	USP31_ENST00000567975.1_Silent_p.S404S	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1111	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GCTTCTGTGGCGAAGGAGATG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	106	103			NA	NA	16		NA											NA				23080093		2197	4300	6497	SO:0001819	synonymous_variant			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404	57478	57478		Ubiquitin-specific peptidases	20060	protein-coding gene	gene with protein product			ubiquitin specific protease 31		NA	12838346	Standard	NM_020718	NM_020718	NA	Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.3333G>A	16.37:g.23080093C>T		NA	Q6AW97|Q6ZTC0|Q6ZTN2|Q9ULL7	37	CCDS10607.1																																																																																			USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000211607.1		-	ENST00000219689.7	Silent	SNP	16 : 23080093 - 23080093 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	694	145
PDZD2	23037	broad.mit.edu	37	5	32088716	32088716	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32088716C>T	ENST00000438447.1	+	20	5550	c.5162C>T	c.(5161-5163)cCg>cTg	p.P1721L	PDZD2_ENST00000282493.3_Missense_Mutation_p.P1721L			O15018	PDZD2_HUMAN	PDZ domain containing 2	1721					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TTTCACAGTCCGCCCATCATT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	97	104			NA	NA	5		NA											NA				32088716		2203	4300	6503	SO:0001583	missense			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401	23037	23037			18486	protein-coding gene	gene with protein product		610697	PDZ domain containing 3	PDZK3	NA	9205841	Standard		XM_005248271	NA	Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.5162C>T	5.37:g.32088716C>T	ENSP00000402033:p.Pro1721Leu	NA	Q9BXD4	37	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.340517	0.24339	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.07021	3.23;3.23	5.37	2.65	0.31530	.	0.898851	0.09563	N	0.785301	T	0.08447	0.0210	L	0.42245	1.32	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37731	-0.9693	10	0.35671	T	0.21	.	7.4691	0.27338	0.0:0.7293:0.0:0.2707	.	1721	O15018	PDZD2_HUMAN	L	1721;1522;1721	ENSP00000402033:P1721L;ENSP00000282493:P1721L	ENSP00000282493:P1721L	P	+	2	0	PDZD2	32124473	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.433000	0.21477	0.264000	0.21851	0.561000	0.74099	CCG	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366608.1		+	ENST00000438447.1	Missense_Mutation	SNP	5 : 32088716 - 32088716 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	468	97
CPEB4	80315	broad.mit.edu	37	5	173316694	173316694	+	Translation_Start_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:173316694G>A	ENST00000265085.5	+	0	1412				CPEB4_ENST00000334035.5_De_novo_Start_InFrame|CPEB4_ENST00000519835.1_De_novo_Start_InFrame|CPEB4_ENST00000520867.1_De_novo_Start_InFrame	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	NA							nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GAGACATCAGGTTGTCATTTT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	51	49			NA	NA	5		NA											NA				173316694		2202	4300	6502					BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742	80315	80315		RNA binding motif (RRM) containing	21747	protein-coding gene	gene with protein product		610607			NA	11214970, 12672660	Standard	NM_030627	NM_030627	NA	Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:	5.37:g.173316694G>A		NA	B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	37	CCDS4390.1																																																																																			CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252964.2		+	ENST00000265085.5	De_novo_Start_InFrame	SNP	5 : 173316694 - 173316694 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	558	93
SPECC1	92521	broad.mit.edu	37	17	20156834	20156834	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:20156834G>T	ENST00000395530.2	+	8	2580	c.2372G>T	c.(2371-2373)aGc>aTc	p.S791I	SPECC1_ENST00000536879.1_Missense_Mutation_p.S212I|SPECC1_ENST00000395527.4_Missense_Mutation_p.S872I|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000261503.5_Missense_Mutation_p.S872I	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	872						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		TCGACTTACAGCAGTGTGCGG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	72	78			NA	NA	17		NA											NA				20156834		2203	4300	6503	SO:0001583	missense			AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487	92521	92521			30615	protein-coding gene	gene with protein product	sperm antigen HCMOGT 1, cytokinesis and spindle organization B, cytospin B	608793			NA	15602574, 18763323, 15087372	Standard	NM_152904	NM_001033553	NA	Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000395530.2:c.2372G>T	17.37:g.20156834G>T	ENSP00000378901:p.Ser791Ile	NA	B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	37	CCDS42281.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671723	0.47781	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000536879;ENST00000395527	T;T	0.57907	0.37;0.37	4.68	2.69	0.31865	.	0.370287	0.29572	N	0.011763	T	0.55641	0.1933	M	0.64997	1.995	0.09310	N	1	P;P;P	0.52061	0.774;0.95;0.88	P;P;P	0.52514	0.498;0.701;0.655	T	0.46133	-0.9213	10	0.45353	T	0.12	-6.4143	7.2694	0.26248	0.201:0.0:0.799:0.0	.	872;791;872	A8MV89;Q5M775-4;Q5M775	.;.;CYTSB_HUMAN	I	872;872;212;791	ENSP00000261503:S872I;ENSP00000438294:S212I	ENSP00000261503:S872I	S	+	2	0	SPECC1	20097426	0.227000	0.23707	0.034000	0.17996	0.066000	0.16364	0.452000	0.21795	0.701000	0.31803	0.650000	0.86243	AGC	SPECC1-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132368.3		+	ENST00000395530.2	Missense_Mutation	SNP	17 : 20156834 - 20156834 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	280	39
PAK6	56924	broad.mit.edu	37	15	40564567	40564567	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40564567G>A	ENST00000455577.2	+	6	1913	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	PAK6_ENST00000453867.1_Missense_Mutation_p.R334H|PAK6_ENST00000441369.1_Missense_Mutation_p.R334H|PAK6_ENST00000260404.4_Missense_Mutation_p.R334H|PAK6_ENST00000542403.2_Missense_Mutation_p.R334H|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000560346.1_Missense_Mutation_p.R334H	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	334	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		AAGTCCCTCCGCACAGCCCCG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	53	51			NA	NA	15		NA											NA				40564567		2203	4300	6503	SO:0001583	missense			AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843	56924	56924			16061	protein-coding gene	gene with protein product		608110	p21(CDKN1A)-activated kinase 6		NA	11278661	Standard		NM_020168	NA	Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000455577.2:c.1001G>A	15.37:g.40564567G>A	ENSP00000409465:p.Arg334His	NA		37		.	.	.	.	.	.	.	.	.	.	G	10.22	1.291122	0.23564	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.74315	-0.78;-0.78;-0.83;-0.78;-0.78	3.97	3.97	0.46021	.	0.744197	0.12876	N	0.431845	T	0.58977	0.2160	L	0.29908	0.895	0.34774	D	0.734001	B;B	0.30914	0.199;0.3	B;B	0.25759	0.029;0.063	T	0.66228	-0.5976	10	0.49607	T	0.09	.	6.6628	0.23024	0.0918:0.0:0.7297:0.1785	.	334;334	Q9NQU5;G5E9R2	PAK6_HUMAN;.	H	334	ENSP00000406873:R334H;ENSP00000401153:R334H;ENSP00000409465:R334H;ENSP00000260404:R334H;ENSP00000439597:R334H	ENSP00000260404:R334H	R	+	2	0	PAK6	38351859	0.991000	0.36638	0.966000	0.40874	0.324000	0.28378	0.784000	0.26816	2.210000	0.71456	0.555000	0.69702	CGC	PAK6-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000418345.1		+	ENST00000455577.2	Missense_Mutation	SNP	15 : 40564567 - 40564567 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	668	33
CECR1	51816	broad.mit.edu	37	22	17663567	17663567	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17663567C>T	ENST00000399839.1	-	8	1436	c.1166G>A	c.(1165-1167)aGc>aAc	p.S389N	CECR1_ENST00000330232.4_Missense_Mutation_p.S148N|CECR1_ENST00000449907.2_Missense_Mutation_p.S347N|CECR1_ENST00000262607.3_Missense_Mutation_p.S389N|CECR1_ENST00000399837.2_Missense_Mutation_p.S389N	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	389					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GGGGTGTTTGCTCAAAGCAAA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	154	160			NA	NA	22		NA											NA				17663567		2203	4300	6503	SO:0001583	missense			AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072	51816	51816			1839	protein-coding gene	gene with protein product		607575		IDGFL	NA	10756095	Standard		NM_001282225	NA	Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.1166G>A	22.37:g.17663567C>T	ENSP00000382733:p.Ser389Asn	NA	A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	37	CCDS13742.1	.	.	.	.	.	.	.	.	.	.	C	1.001	-0.691072	0.03303	.	.	ENSG00000093072	ENST00000399839;ENST00000330232;ENST00000262607;ENST00000449907;ENST00000399837	D;D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63;-3.63	3.97	-6.59	0.01830	Adenosine/AMP deaminase (1);	0.583494	0.19011	N	0.125077	D	0.88793	0.6533	M	0.61703	1.905	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.002;0.003	T	0.74520	-0.3638	10	0.28530	T	0.3	.	6.1549	0.20332	0.3327:0.1248:0.4714:0.0711	.	389;148	Q9NZK5;Q9NZK5-2	CECR1_HUMAN;.	N	389;148;389;347;389	ENSP00000382733:S389N;ENSP00000332871:S148N;ENSP00000262607:S389N;ENSP00000406443:S347N;ENSP00000382731:S389N	ENSP00000262607:S389N	S	-	2	0	CECR1	16043567	0.000000	0.05858	0.073000	0.20177	0.072000	0.16883	-1.682000	0.01935	-1.386000	0.02098	-0.424000	0.05967	AGC	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316079.1		-	ENST00000399839.1	Missense_Mutation	SNP	22 : 17663567 - 17663567 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	501	122
FAM169B	283777	broad.mit.edu	37	15	99023964	99023964	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99023964C>T	ENST00000558256.1	-	4	298	c.49G>A	c.(49-51)Gcc>Acc	p.A17T	FAM169B_ENST00000332908.4_Missense_Mutation_p.A17T	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	17										large_intestine(3)|lung(3)|urinary_tract(1)	7						AAAATAATGGCGTTTAGAATG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	83	84			NA	NA	15		NA											NA				99023964		1867	4094	5961	SO:0001583	missense				CCDS45360.1	15q26.3	2008-08-08			ENSG00000185087	ENSG00000185087	283777	283777			26835	protein-coding gene	gene with protein product					NA		Standard	NM_182562	NM_182562	NA	Approved	FLJ39743, KIAA0888L	uc002buk.1	Q8N8A8		ENST00000558256.1:c.49G>A	15.37:g.99023964C>T	ENSP00000453554:p.Ala17Thr	NA	B5MDL8	37	CCDS45360.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.291580	0.23564	.	.	ENSG00000185087	ENST00000332908	T	0.71817	-0.6	5.27	2.1	0.27182	.	0.694331	0.13929	N	0.353052	T	0.42040	0.1185	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.16070	-1.0415	10	0.17369	T	0.5	-6.2819	2.9599	0.05889	0.3016:0.4772:0.1264:0.0949	.	17	Q8N8A8	F169B_HUMAN	T	17	ENSP00000332615:A17T	ENSP00000332615:A17T	A	-	1	0	FAM169B	96841487	0.982000	0.34865	0.113000	0.21522	0.798000	0.45092	1.370000	0.34238	1.180000	0.42898	0.655000	0.94253	GCC	FAM169B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415488.1		-	ENST00000558256.1	Missense_Mutation	SNP	15 : 99023964 - 99023964 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	261	43
YLPM1	56252	broad.mit.edu	37	14	75284986	75284986	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75284986G>A	ENST00000552421.1	+	15	4005	c.3881G>A	c.(3880-3882)cGt>cAt	p.R1294H	YLPM1_ENST00000325680.7_Missense_Mutation_p.R2000H|YLPM1_ENST00000238571.3_Missense_Mutation_p.R1765H			P49750	YLPM1_HUMAN	YLP motif containing 1	1805					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CTAGATATTCGTTCTTTGCTG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	119	122			NA	NA	14		NA											NA				75284986		1924	4155	6079	SO:0001583	missense			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596	56252	56252			17798	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 169		chromosome 14 open reading frame 170	C14orf170	NA	7596406	Standard	NM_019589	NM_019589	NA	Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.3881G>A	14.37:g.75284986G>A	ENSP00000447921:p.Arg1294His	NA	P49752|Q96I64|Q9P1V7	37		.	.	.	.	.	.	.	.	.	.	G	32	5.136174	0.94517	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680;ENST00000547879	T;T;T	0.34275	1.37;1.37;1.37	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000010	T	0.53498	0.1800	L	0.39898	1.24	0.80722	D	1	P;D	0.76494	0.786;0.999	P;D	0.75020	0.517;0.985	T	0.53753	-0.8394	10	0.62326	D	0.03	-6.6839	19.2226	0.93803	0.0:0.0:1.0:0.0	.	1805;2000	P49750-3;P49750-4	.;.	H	1294;2000;1765;1713;409	ENSP00000447921:R1294H;ENSP00000324463:R2000H;ENSP00000448367:R409H	ENSP00000238571:R1765H	R	+	2	0	YLPM1	74354739	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.548000	0.85928	0.650000	0.86243	CGT	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000404450.1		+	ENST00000552421.1	Missense_Mutation	SNP	14 : 75284986 - 75284986 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	65	12
NPAS1	4861	broad.mit.edu	37	19	47542776	47542776	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47542776G>A	ENST00000602212.1	+	8	1136	c.916G>A	c.(916-918)Gtc>Atc	p.V306I	NPAS1_ENST00000602189.1_Missense_Mutation_p.V131I|NPAS1_ENST00000439365.2_Missense_Mutation_p.V130I|NPAS1_ENST00000449844.2_Missense_Mutation_p.V306I			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	306	PAS 2.				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		ACACATGATCGTCTTCCGTCT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	33	33			NA	NA	19		NA											NA				47542776		2203	4294	6497	SO:0001583	missense			U77968	CCDS12694.1	19q13.2-q13.3	2013-05-21				ENSG00000130751	4861	4861		Basic helix-loop-helix proteins	7894	protein-coding gene	gene with protein product	neuronal PAS1, member of PAS superfamily 5	603346			NA	9012850, 9079689	Standard	NM_002517	NM_002517	NA	Approved	MOP5, PASD5, bHLHe11	uc002pfy.3	Q99742		ENST00000602212.1:c.916G>A	19.37:g.47542776G>A	ENSP00000469142:p.Val306Ile	NA	Q99632|Q9BY83	37	CCDS12694.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744551	0.89663	.	.	ENSG00000130751	ENST00000449844;ENST00000439365	T;T	0.29917	2.33;1.55	4.56	4.56	0.56223	PAS (1);	0.000000	0.64402	D	0.000009	T	0.45115	0.1326	L	0.41356	1.27	0.58432	D	0.999992	D;D	0.76494	0.998;0.999	D;P	0.75484	0.986;0.891	T	0.41520	-0.9504	10	0.66056	D	0.02	.	12.8213	0.57694	0.0:0.0:1.0:0.0	.	130;306	B4DR69;Q99742	.;NPAS1_HUMAN	I	306;130	ENSP00000405290:V306I;ENSP00000398689:V130I	ENSP00000398689:V130I	V	+	1	0	NPAS1	52234616	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.388000	0.73195	2.097000	0.63578	0.561000	0.74099	GTC	NPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466658.1		+	ENST00000602212.1	Missense_Mutation	SNP	19 : 47542776 - 47542776 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	344	76
SP140L	93349	broad.mit.edu	37	2	231256917	231256917	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231256917C>T	ENST00000415673.2	+	12	1166	c.1080C>T	c.(1078-1080)ggC>ggT	p.G360G	SP140L_ENST00000444636.1_Silent_p.G360G|SP140L_ENST00000243810.6_Silent_p.G360G|SP140L_ENST00000396563.4_Silent_p.G325G	NM_138402.4	NP_612411.4	Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	360	SAND.					nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						TGCGCTGTGGCGGGTGGCCCC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	104	99			NA	NA	2		NA											NA				231256917		2066	4195	6261	SO:0001819	synonymous_variant			BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404	93349	93349		Zinc fingers, PHD-type	25105	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_138402	NM_138402	NA	Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.1080C>T	2.37:g.231256917C>T		NA	Q2M375|Q4ZG65|Q9BSP3	37	CCDS46538.1																																																																																			SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374538.1		+	ENST00000415673.2	Silent	SNP	2 : 231256917 - 231256917 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	482	99
TMEM184A	202915	broad.mit.edu	37	7	1590563	1590563	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1590563C>T	ENST00000297477.5	-	3	591	c.275G>A	c.(274-276)cGc>cAc	p.R92H		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	92						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGGAGCAGGCGGATGATGTA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	104	101			NA	NA	7		NA											NA				1590563		2203	4300	6503	SO:0001583	missense				CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855	202915	202915			28797	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152689	NM_001097620	NA	Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.275G>A	7.37:g.1590563C>T	ENSP00000297477:p.Arg92His	NA	Q8TBQ6	37	CCDS43537.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575764	0.65878	.	.	ENSG00000164855	ENST00000297477;ENST00000319010;ENST00000414730;ENST00000441933;ENST00000431208	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	5.15	4.27	0.50696	.	0.000000	0.85682	U	0.000000	T	0.81346	0.4803	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.87494	0.2429	10	0.87932	D	0	-5.0589	13.7268	0.62763	0.0:0.9248:0.0:0.0752	.	92	Q6ZMB5	T184A_HUMAN	H	92	ENSP00000297477:R92H;ENSP00000325945:R92H;ENSP00000398382:R92H;ENSP00000389092:R92H;ENSP00000403499:R92H	ENSP00000297477:R92H	R	-	2	0	TMEM184A	1557089	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	7.651000	0.83577	1.166000	0.42689	0.407000	0.27541	CGC	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239229.4		-	ENST00000297477.5	Missense_Mutation	SNP	7 : 1590563 - 1590563 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	247	35
UBR5	51366	broad.mit.edu	37	8	103338880	103338880	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103338880G>A	ENST00000521922.1	-	13	1999	c.1475C>T	c.(1474-1476)cCt>cTt	p.P492L	UBR5_ENST00000220959.4_Missense_Mutation_p.P498L|UBR5_ENST00000520539.1_Missense_Mutation_p.P498L			O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	498					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTGACTAAAAGGAACTACACC	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(131;96 1741 5634 7352 27489)							NA				0													140	128	132			NA	NA	8		NA											NA				103338880		2203	4300	6503	SO:0001583	missense			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517	51366	51366		Ubiquitin protein ligase E3 component n-recognins	16806	protein-coding gene	gene with protein product		608413	E3 ubiquitin protein ligase, HECT domain containing, 1	EDD1	NA	10030672, 16055722	Standard	NM_015902	NM_015902	NA	Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000521922.1:c.1475C>T	8.37:g.103338880G>A	ENSP00000427819:p.Pro492Leu	NA	B2RP24|O94970|Q9NPL3	37		.	.	.	.	.	.	.	.	.	.	G	26.4	4.738842	0.89573	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.75477	-0.94;-0.94;-0.92	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.85792	0.5779	M	0.76727	2.345	0.80722	D	1	D;D	0.54601	0.967;0.967	D;D	0.64595	0.927;0.927	D	0.87270	0.2285	10	0.87932	D	0	.	19.0545	0.93058	0.0:0.0:1.0:0.0	.	492;498	E7EMW7;O95071	.;UBR5_HUMAN	L	498;498;492	ENSP00000429084:P498L;ENSP00000220959:P498L;ENSP00000427819:P492L	ENSP00000220959:P498L	P	-	2	0	UBR5	103408056	1.000000	0.71417	0.999000	0.59377	0.920000	0.55202	9.373000	0.97168	2.566000	0.86566	0.460000	0.39030	CCT	UBR5-003	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000380199.1		-	ENST00000521922.1	Missense_Mutation	SNP	8 : 103338880 - 103338880 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	217	28
BTN1A1	696	broad.mit.edu	37	6	26507040	26507040	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26507040G>A	ENST00000244513.6	+	4	905	c.839G>A	c.(838-840)aGg>aAg	p.R280K		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	280						extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						AGAGAGAGGAGGAATGAATTC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	168	167			NA	NA	6		NA											NA				26507040		2203	4300	6503	SO:0001583	missense			U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557	696	696		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Butyrophilins	1135	protein-coding gene	gene with protein product		601610		BTN	NA	8114113, 9382921	Standard	NM_001732	NM_001732	NA	Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.839G>A	6.37:g.26507040G>A	ENSP00000244513:p.Arg280Lys	NA	Q4VAN3|Q4VAN4|Q9H458	37	CCDS4614.1	.	.	.	.	.	.	.	.	.	.	G	0.069	-1.206364	0.01568	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.35605	1.3	5.4	-2.07	0.07276	.	0.466636	0.20153	N	0.098120	T	0.02342	0.0072	N	0.02275	-0.615	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40289	-0.9571	10	0.02654	T	1	.	5.2949	0.15747	0.4649:0.1578:0.3773:0.0	.	280	Q13410	BT1A1_HUMAN	K	280	ENSP00000244513:R280K	ENSP00000244513:R280K	R	+	2	0	BTN1A1	26615019	0.002000	0.14202	0.008000	0.14137	0.020000	0.10135	0.008000	0.13197	-0.187000	0.10516	-0.290000	0.09829	AGG	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043776.1		+	ENST00000244513.6	Missense_Mutation	SNP	6 : 26507040 - 26507040 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	877	171
N4BP3	23138	broad.mit.edu	37	5	177547263	177547263	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177547263G>T	ENST00000274605.5	+	3	774	c.415G>T	c.(415-417)Ggc>Tgc	p.G139C		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	139						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTCCCACAAAGGCCAGAAGCT	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	37	37			NA	NA	5		NA											NA				177547263		2203	4300	6503	SO:0001583	missense			AB002339	CCDS34307.1	5q35.3	2012-05-17				ENSG00000145911	23138	23138			29852	protein-coding gene	gene with protein product					NA	9205841, 11717310	Standard	NM_015111	XM_006714834	NA	Approved	LZTS4	uc003mik.1	O15049		ENST00000274605.5:c.415G>T	5.37:g.177547263G>T	ENSP00000274605:p.Gly139Cys	NA	B4DIL3|D3DWP3|Q6ZSQ6|Q7Z6I3	37	CCDS34307.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.433364	0.62844	.	.	ENSG00000145911	ENST00000274605	T	0.00545	6.67	5.13	5.13	0.70059	.	0.305258	0.39544	N	0.001337	T	0.01454	0.0047	L	0.43152	1.355	0.41753	D	0.989678	D	0.89917	1.0	D	0.87578	0.998	T	0.73129	-0.4080	10	0.66056	D	0.02	-36.6317	13.9377	0.64034	0.0:0.0:1.0:0.0	.	139	O15049	N4BP3_HUMAN	C	139	ENSP00000274605:G139C	ENSP00000274605:G139C	G	+	1	0	N4BP3	177479869	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	4.502000	0.60400	2.668000	0.90789	0.655000	0.94253	GGC	N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373552.2		+	ENST00000274605.5	Missense_Mutation	SNP	5 : 177547263 - 177547263 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	286	29
GRM7	2917	broad.mit.edu	37	3	7620917	7620917	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:7620917T>C	ENST00000486284.1	+	8	2598	c.2324T>C	c.(2323-2325)aTc>aCc	p.I775T	GRM7_ENST00000402647.2_Missense_Mutation_p.I775T|GRM7_ENST00000403881.1_Missense_Mutation_p.I775T|GRM7_ENST00000389336.4_Missense_Mutation_p.I775T|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000357716.4_Missense_Mutation_p.I775T	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	775					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GTGTATGCCATCAAGACTCGG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	99	101			NA	NA	3		NA											NA				7620917		2203	4300	6503	SO:0001583	missense			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277	2917	2917		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4599	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 87	604101			NA	8288585, 8840028	Standard	NM_000844	NM_000844	NA	Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000486284.1:c.2324T>C	3.37:g.7620917T>C	ENSP00000417536:p.Ile775Thr	NA	Q8NFS2|Q8NFS3|Q8NFS4	37		.	.	.	.	.	.	.	.	.	.	T	19.54	3.847396	0.71603	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42	6.17	6.17	0.99709	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93644	0.7970	M	0.65975	2.015	0.58432	D	0.999999	P;D;D;D;P	0.69078	0.621;0.989;0.997;0.968;0.947	P;D;D;D;P	0.80764	0.593;0.985;0.994;0.969;0.747	D	0.94088	0.7350	10	0.87932	D	0	.	15.6463	0.77055	0.0:0.0:0.0:1.0	.	775;775;530;775;775	B7ZKK0;Q14831-5;Q59G95;Q14831;Q14831-2	.;.;.;GRM7_HUMAN;.	T	775	ENSP00000350348:I775T;ENSP00000417536:I775T;ENSP00000373987:I775T;ENSP00000385664:I775T;ENSP00000384585:I775T	ENSP00000350348:I775T	I	+	2	0	GRM7	7595917	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	ATC	GRM7-015	PUTATIVE	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000354360.1		+	ENST00000486284.1	Missense_Mutation	SNP	3 : 7620917 - 7620917 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	405	85
PRKAB2	5565	broad.mit.edu	37	1	146631222	146631222	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:146631222C>A	ENST00000254101.3	-	8	880		c.e8-1		PRKAB2_ENST00000425272.2_Splice_Site|PRKAB2_ENST00000496858.1_Splice_Site	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN	protein kinase, AMP-activated, beta 2 non-catalytic subunit	NA					carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm				NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Adenosine monophosphate(DB00131)	TCACACTGTCCTGCAAGGAAA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	125	132			NA	NA	1		NA											NA				146631222		2203	4300	6503	SO:0001630	splice_region_variant			BC053610	CCDS925.1	1q21.2	2008-02-05			ENSG00000131791	ENSG00000131791	5565	5565			9379	protein-coding gene	gene with protein product	AMPK beta 2	602741			NA	8557660	Standard	NM_005399	NM_005399	NA	Approved		uc001epe.3	O43741	OTTHUMG00000014032	ENST00000254101.3:c.742-1G>T	1.37:g.146631222C>A		NA	A8K9V5|Q5VXY0	37	CCDS925.1	.	.	.	.	.	.	.	.	.	.	c	20.7	4.027570	0.75390	.	.	ENSG00000131791	ENST00000254101;ENST00000425272	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1174	0.86692	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRKAB2	145097846	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	5.608000	0.67654	2.906000	0.99361	0.655000	0.94253	.	PRKAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039471.1	Intron	-	ENST00000254101.3	Splice_Site	SNP	1 : 146631222 - 146631222 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	193	32
ASAP2	8853	broad.mit.edu	37	2	9463281	9463281	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9463281G>A	ENST00000281419.3	+	6	842	c.502G>A	c.(502-504)Gcc>Acc	p.A168T	ASAP2_ENST00000315273.4_Missense_Mutation_p.A168T	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	168					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						AAAGGAACACGCCAAGCTCCA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	118	118			NA	NA	2		NA											NA				9463281		2203	4300	6503	SO:0001583	missense			AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693	8853	8853		ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing	2721	protein-coding gene	gene with protein product	centaurin, beta 3	603817	development and differentiation enhancing factor 2	DDEF2	NA	10022920, 9455477	Standard	NM_003887	NM_003887	NA	Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.502G>A	2.37:g.9463281G>A	ENSP00000281419:p.Ala168Thr	NA	D6W4Y8	37	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	G	36	5.649500	0.96714	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.04551	3.6;3.6	5.21	5.21	0.72293	.	0.109197	0.64402	D	0.000006	T	0.22589	0.0545	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.68621	0.959;0.954	T	0.00162	-1.1971	10	0.51188	T	0.08	.	18.5624	0.91105	0.0:0.0:1.0:0.0	.	168;168	O43150-2;O43150	.;ASAP2_HUMAN	T	168	ENSP00000281419:A168T;ENSP00000316404:A168T	ENSP00000281419:A168T	A	+	1	0	ASAP2	9380732	1.000000	0.71417	0.964000	0.40570	0.997000	0.91878	9.342000	0.97044	2.702000	0.92279	0.655000	0.94253	GCC	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000237522.1		+	ENST00000281419.3	Missense_Mutation	SNP	2 : 9463281 - 9463281 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	846	78
PITPNB	23760	broad.mit.edu	37	22	28269748	28269748	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28269748C>T	ENST00000335272.5	-	8	588	c.512G>A	c.(511-513)gGc>gAc	p.G171D	PITPNB_ENST00000455418.3_Missense_Mutation_p.G173D|PITPNB_ENST00000320996.10_Missense_Mutation_p.G171D	NM_012399.3	NP_036531.1	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta	171					lipid metabolic process|transport	Golgi apparatus	lipid binding			large_intestine(4)|lung(3)|skin(1)	8						TCCCAAAGGGCCTCTCTTGGT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	74	78			NA	NA	22		NA											NA				28269748		2203	4300	6503	SO:0001583	missense			D30037	CCDS13842.1, CCDS63433.1	22q12.1	2006-12-15			ENSG00000180957	ENSG00000180957	23760	23760			9002	protein-coding gene	gene with protein product		606876			NA	10591208	Standard		NM_012399	NA	Approved	VIB1B	uc003adk.3	P48739	OTTHUMG00000150976	ENST00000335272.5:c.512G>A	22.37:g.28269748C>T	ENSP00000334738:p.Gly171Asp	NA	B3KYB8|Q8N5W1	37	CCDS13842.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344218	0.82022	.	.	ENSG00000180957	ENST00000335272;ENST00000320996;ENST00000455418;ENST00000415296	T;T;T;T	0.61980	0.06;0.06;0.06;0.06	5.7	4.68	0.58851	START-like domain (1);	0.000000	0.85682	D	0.000000	D	0.85353	0.5677	H	0.96861	3.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89831	0.3996	10	0.87932	D	0	-30.9357	13.5209	0.61568	0.0:0.9246:0.0:0.0754	.	173;171;171	B7Z7Q0;P48739-2;P48739	.;.;PIPNB_HUMAN	D	171;171;173;98	ENSP00000334738:G171D;ENSP00000321266:G171D;ENSP00000405179:G173D;ENSP00000406542:G98D	ENSP00000321266:G171D	G	-	2	0	PITPNB	26599748	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.081000	0.71309	1.410000	0.46936	0.655000	0.94253	GGC	PITPNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320740.1		-	ENST00000335272.5	Missense_Mutation	SNP	22 : 28269748 - 28269748 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	194	42
NEB	4703	broad.mit.edu	37	2	152364595	152364595	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152364595G>A	ENST00000603639.1	-	160	23374	c.23375C>T	c.(23374-23376)tCc>tTc	p.S7792F	NEB_ENST00000604864.1_Missense_Mutation_p.S7792F|NEB_ENST00000427231.2_Missense_Mutation_p.S7792F|NEB_ENST00000397345.3_Missense_Mutation_p.S7792F|NEB_ENST00000172853.10_Missense_Mutation_p.S6091F|NEB_ENST00000409198.1_Missense_Mutation_p.S6091F			P20929	NEBU_HUMAN	nebulin	6091					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATACGACATGGACTTCTCAGC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	112	118			NA	NA	2		NA											NA				152364595		1848	4094	5942	SO:0001583	missense			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091	4703	4703			7720	protein-coding gene	gene with protein product	nemaline myopathy type 2	161650		NEM2	NA	10051637, 9359044	Standard	NM_004543	NM_001164507	NA	Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000603639.1:c.23375C>T	2.37:g.152364595G>A	ENSP00000473894:p.Ser7792Phe	NA	Q15346|Q53QQ2|Q53TG8	37	CCDS54407.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.64|16.64	3.178357|3.178357	0.57692|0.57692	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000434685|ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	.|T;T;T;T;T	.|0.49432	.|0.78;0.78;0.78;0.78;0.78	5.35|5.35	0.993|0.993	0.19825|0.19825	.|.	.|0.510406	.|0.20688	.|N	.|0.087515	T|T	0.50871|0.50871	0.1641|0.1641	L|L	0.46819|0.46819	1.47|1.47	0.80722|0.80722	D|D	1|1	.|P;D;P	.|0.53462	.|0.708;0.96;0.915	.|P;P;P	.|0.54965	.|0.723;0.708;0.765	T|T	0.42292|0.42292	-0.9460|-0.9460	5|10	.|0.23302	.|T	.|0.38	.|.	13.8688|13.8688	0.63605|0.63605	0.0:0.4829:0.4177:0.0994|0.0:0.4829:0.4177:0.0994	.|.	.|6091;7792;2522	.|P20929;F8WCP0;Q14215	.|NEBU_HUMAN;.;.	S|F	378|6091;7792;7792;2140;2522;6091	.|ENSP00000386259:S6091F;ENSP00000380505:S7792F;ENSP00000416578:S7792F;ENSP00000410961:S2522F;ENSP00000172853:S6091F	.|ENSP00000172853:S6091F	P|S	-|-	1|2	0|0	NEB|NEB	152072841|152072841	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	1.737000|1.737000	0.38197|0.38197	0.256000|0.256000	0.21614|0.21614	0.655000|0.655000	0.94253|0.94253	CCA|TCC	NEB-017	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000469059.2		-	ENST00000603639.1	Missense_Mutation	SNP	2 : 152364595 - 152364595 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	89	18
OR52E2	119678	broad.mit.edu	37	11	5079958	5079958	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5079958G>T	ENST00000321522.2	-	1	899	c.900C>A	c.(898-900)atC>atA	p.I300I		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CACATTTATAGATCTGCTTGG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	68	68			NA	NA	11		NA											NA				5079958		2201	4298	6499	SO:0001819	synonymous_variant			AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787	119678	119678		GPCR / Class A : Olfactory receptors	14769	protein-coding gene	gene with protein product					NA		Standard	NM_001005164	NM_001005164	NA	Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.900C>A	11.37:g.5079958G>T		NA		37	CCDS31371.1																																																																																			OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000142815.1		-	ENST00000321522.2	Silent	SNP	11 : 5079958 - 5079958 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	338	71
ST8SIA5	29906	broad.mit.edu	37	18	44260357	44260357	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44260357C>T	ENST00000315087.7	-	7	1439	c.779G>A	c.(778-780)cGc>cAc	p.R260H	ST8SIA5_ENST00000536490.1_Missense_Mutation_p.R229H|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.R296H	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	260					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GTACTTGACGCGGATGGACAC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	60	75			NA	NA	18		NA											NA				44260357		2203	4300	6503	SO:0001583	missense			U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638	29906	29906		Sialyltransferases	17827	protein-coding gene	gene with protein product	ST8Sia V	607162	sialyltransferase 8E (alpha-2, 8-polysialytransferase)	SIAT8E	NA	9199191	Standard	NM_013305	XM_005258250	NA	Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.779G>A	18.37:g.44260357C>T	ENSP00000321343:p.Arg260His	NA	Q6IAW7	37	CCDS11930.1	.	.	.	.	.	.	.	.	.	.	C	35	5.571418	0.96553	.	.	ENSG00000101638	ENST00000315087;ENST00000538168;ENST00000536490	T;T;T	0.32272	1.46;1.46;1.46	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.63486	0.2515	M	0.90082	3.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.985;0.998	T	0.63892	-0.6534	10	0.22109	T	0.4	-8.1148	19.4172	0.94706	0.0:1.0:0.0:0.0	.	229;296;260	F5H8D1;B7Z1K9;O15466	.;.;SIA8E_HUMAN	H	260;296;229	ENSP00000321343:R260H;ENSP00000445492:R296H;ENSP00000443683:R229H	ENSP00000321343:R260H	R	-	2	0	ST8SIA5	42514355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.094000	0.71431	2.584000	0.87258	0.561000	0.74099	CGC	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255892.1		-	ENST00000315087.7	Missense_Mutation	SNP	18 : 44260357 - 44260357 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	175	20
PIK3C2G	5288	broad.mit.edu	37	12	18552635	18552635	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:18552635C>T	ENST00000266497.5	+	14	2084	c.2046C>T	c.(2044-2046)ttC>ttT	p.F682F	PIK3C2G_ENST00000433979.1_Silent_p.F682F|PIK3C2G_ENST00000538779.1_Silent_p.F723F			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	682					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TTTATCGCTTCTACTGCAATA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	94	95			NA	NA	12		NA											NA				18552635		1822	4082	5904	SO:0001819	synonymous_variant			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	5288	5288	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	phosphoinositide-3-kinase, class 2, gamma polypeptide		NA	9878262	Standard	NM_004570	XM_005253393	NA	Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.2046C>T	12.37:g.18552635C>T		NA	A1L3U0	37	CCDS44839.1																																																																																			PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401316.1		+	ENST00000266497.5	Silent	SNP	12 : 18552635 - 18552635 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	421	78
PIK3C2A	5286	broad.mit.edu	37	11	17141433	17141433	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17141433C>T	ENST00000265970.7	-	15	2745	c.2746G>A	c.(2746-2748)Gcc>Acc	p.A916T	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.A536T	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	916					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.A916S(1)|p.A916T(1)		central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	CAGTTTGGGGCGCTTGCTAAT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(1)|central_nervous_system(1)											112	115	114			NA	NA	11		NA											NA				17141433		2200	4293	6493	SO:0001583	missense			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	5286	5286	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	phosphoinositide-3-kinase, class 2, alpha polypeptide		NA	9337861	Standard	NM_002645	NM_002645	NA	Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.2746G>A	11.37:g.17141433C>T	ENSP00000265970:p.Ala916Thr	NA	B0LPH2|Q14CQ9	37	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549157	0.86127	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.61510	0.1;0.1	5.28	4.37	0.52481	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.057131	0.64402	D	0.000001	T	0.69495	0.3117	L	0.58810	1.83	0.58432	D	0.999999	D	0.76494	0.999	D	0.64042	0.921	T	0.70898	-0.4747	10	0.49607	T	0.09	-7.3232	14.08	0.64914	0.0:0.9268:0.0:0.0732	.	916	O00443	P3C2A_HUMAN	T	916;536	ENSP00000265970:A916T;ENSP00000438687:A536T	ENSP00000265970:A916T	A	-	1	0	PIK3C2A	17098009	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.722000	0.68485	1.228000	0.43614	-0.224000	0.12420	GCC	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387553.1		-	ENST00000265970.7	Missense_Mutation	SNP	11 : 17141433 - 17141433 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	474	92
TAS2R9	50835	broad.mit.edu	37	12	10962247	10962247	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10962247A>C	ENST00000240691.2	-	1	520	c.428T>G	c.(427-429)aTt>aGt	p.I143S		NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	143					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AACACTAATAATTAAAGAGAT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	55	54			NA	NA	12		NA											NA				10962247		2203	4298	6501	SO:0001583	missense			AF227135	CCDS8633.1	12p13	2012-08-22			ENSG00000121381	ENSG00000121381	50835	50835		Taste receptors / Type 2, GPCR / Unclassified : Taste receptors	14917	protein-coding gene	gene with protein product		604795			NA	10761934, 10766242	Standard		NM_023917	NA	Approved	T2R9, TRB6	uc001qyx.3	Q9NYW1	OTTHUMG00000168507	ENST00000240691.2:c.428T>G	12.37:g.10962247A>C	ENSP00000240691:p.Ile143Ser	NA	Q502V7|Q50KT0|Q50KT1|Q645W9	37	CCDS8633.1	.	.	.	.	.	.	.	.	.	.	A	10.86	1.469142	0.26423	.	.	ENSG00000121381	ENST00000240691	T	0.38077	1.16	3.82	1.49	0.22878	GPCR, rhodopsin-like superfamily (1);	0.959327	0.08425	U	0.947811	T	0.29850	0.0746	L	0.52011	1.625	0.09310	N	1	P	0.45078	0.85	B	0.39027	0.288	T	0.24404	-1.0161	10	0.62326	D	0.03	.	5.1001	0.14754	0.6463:0.0:0.3537:0.0	.	143	Q9NYW1	TA2R9_HUMAN	S	143	ENSP00000240691:I143S	ENSP00000240691:I143S	I	-	2	0	TAS2R9	10853514	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-1.646000	0.01998	0.639000	0.30564	0.528000	0.53228	ATT	TAS2R9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399933.1		-	ENST00000240691.2	Missense_Mutation	SNP	12 : 10962247 - 10962247 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	327	52
CAND2	23066	broad.mit.edu	37	3	12856659	12856659	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12856659C>T	ENST00000456430.2	+	8	1067	c.1026C>T	c.(1024-1026)agC>agT	p.S342S	CAND2_ENST00000295989.5_Silent_p.S249S	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	342					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ACGAGTACAGCGATGACGATG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(43;676 868 1633 6395 37496)							NA				0													59	67	64			NA	NA	3		NA											NA				12856659		2155	4252	6407	SO:0001819	synonymous_variant				CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712	23066	23066			30689	protein-coding gene	gene with protein product	TBP interacting protein	610403			NA	9734811, 10441524	Standard	XM_371617	NM_012298	NA	Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.1026C>T	3.37:g.12856659C>T		NA	B9EGM9	37	CCDS54554.1																																																																																			CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339856.4		+	ENST00000456430.2	Silent	SNP	3 : 12856659 - 12856659 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	444	86
FAM198B	51313	broad.mit.edu	37	4	159091910	159091910	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159091910C>T	ENST00000296530.8	-	2	1239	c.618G>A	c.(616-618)agG>agA	p.R206R	FAM198B_ENST00000585682.1_Silent_p.R206R|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000393807.5_Silent_p.R206R|FAM198B_ENST00000592057.1_Silent_p.R206R|RP11-597D13.9_ENST00000503611.1_RNA	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	206						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						CGCTGTAGATCCTAATGTTGC	0.632		NA									OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	58	56			NA	NA	4		NA											NA				159091910		2203	4300	6503	SO:0001819	synonymous_variant				CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125	51313	51313			25312	protein-coding gene	gene with protein product			chromosome 4 open reading frame 18	C4orf18	NA	12975309	Standard	NM_001031700, NM_016613	NM_001031700	NA	Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.618G>A	4.37:g.159091910C>T		1798	Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	37	CCDS3798.1																																																																																			FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365230.1		-	ENST00000296530.8	Silent	SNP	4 : 159091910 - 159091910 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	397	14
NRG1	3084	broad.mit.edu	37	8	32600219	32600219	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:32600219G>A	ENST00000287842.3	+	7	1119	c.659G>A	c.(658-660)cGc>cAc	p.R220H	NRG1_ENST00000341377.5_Missense_Mutation_p.A243T|NRG1_ENST00000519301.1_Missense_Mutation_p.R165H|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000520502.2_Missense_Mutation_p.R275H|NRG1_ENST00000405005.3_Intron|NRG1_ENST00000523079.1_Missense_Mutation_p.R220H|NRG1_ENST00000539990.1_Missense_Mutation_p.R66H|NRG1_ENST00000287845.5_Missense_Mutation_p.R186H|NRG1_ENST00000356819.4_Missense_Mutation_p.R220H|NRG1_ENST00000520407.1_Missense_Mutation_p.R401H	NM_001160004.1|NM_013957.3	NP_001153476.1|NP_039251.2	Q02297	NRG1_HUMAN	neuregulin 1	220	EGF-like.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		ACTGGTGATCGCTGCCAAAAC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													225	192	203			NA	NA	8		NA											NA				32600219		2203	4300	6503	SO:0001583	missense			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168	3084	3084		Immunoglobulin superfamily / I-set domain containing	7997	protein-coding gene	gene with protein product		142445	NRG1 intronic transcript 2 (non-protein coding)	HGL, NRG1-IT2	NA	1350381, 8095334	Standard		NM_013962	NA	Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000287842.3:c.659G>A	8.37:g.32600219G>A	ENSP00000287842:p.Arg220His	NA	A5YAK4|A5YAK5|A8K1L2|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	37	CCDS6084.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.2|28.2	4.900372|4.900372	0.92035|0.92035	.|.	.|.	ENSG00000157168|ENSG00000157168	ENST00000341377;ENST00000523041|ENST00000518104;ENST00000519301;ENST00000520407;ENST00000523534;ENST00000523079;ENST00000356819;ENST00000287845;ENST00000287842;ENST00000520502;ENST00000518084;ENST00000519240;ENST00000539990	T|D;D;D;D;D;D;D;D;T;T;T;D	0.77489|0.91996	-1.1|-2.95;-2.95;-2.95;-2.95;-2.95;-2.95;-2.95;-2.95;1.46;0.94;1.46;-2.95	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	.|.	.|.	.|.	.|.	D|D	0.97090|0.97090	0.9049|0.9049	M|M	0.90759|0.90759	3.145|3.145	0.80722|0.80722	D|D	1|1	B|D;D;D;D;D;D;D;D;D;D;D	0.31054|0.89917	0.306|1.0;1.0;1.0;0.999;1.0;0.998;1.0;1.0;1.0;0.999;1.0	B|D;D;D;D;D;P;D;D;D;D;D	0.28385|0.85130	0.089|0.997;0.985;0.982;0.96;0.985;0.823;0.996;0.982;0.982;0.943;0.989	D|D	0.97037|0.97037	0.9754|0.9754	9|9	0.87932|0.87932	D|D	0|0	.|.	20.5568|20.5568	0.99304|0.99304	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	243|66;220;186;220;219;185;275;220;220;220;401	Q02297-4|B7Z1E3;E9PHH4;F8W9E3;Q7RTW4;B0FYA9;B0FWZ3;Q02297-10;Q02297-7;Q02297-6;Q02297-8;Q02297-9	.|.;.;.;.;.;.;.;.;.;.;.	T|H	243;192|182;165;401;288;220;220;186;220;275;66;66;66	ENSP00000340497:A243T|ENSP00000430053:R182H;ENSP00000429582:R165H;ENSP00000434640:R401H;ENSP00000429067:R288H;ENSP00000430120:R220H;ENSP00000349275:R220H;ENSP00000287845:R186H;ENSP00000287842:R220H;ENSP00000433289:R275H;ENSP00000428546:R66H;ENSP00000428411:R66H;ENSP00000439276:R66H	ENSP00000340497:A243T|ENSP00000287842:R220H	A|R	+|+	1|2	0|0	NRG1|NRG1	32719761|32719761	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.837000|9.837000	0.99465|0.99465	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GCT|CGC	NRG1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376467.1		+	ENST00000287842.3	Missense_Mutation	SNP	8 : 32600219 - 32600219 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	893	203
USP8	9101	broad.mit.edu	37	15	50786282	50786282	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50786282G>A	ENST00000425032.3	+	13	2338	c.2145G>A	c.(2143-2145)ggG>ggA	p.G715G	USP8_ENST00000433963.1_Silent_p.G821G|RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000307179.4_Silent_p.G821G|USP8_ENST00000396444.3_Silent_p.G821G	NM_001283049.1	NP_001269978.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	821					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ATTTGTTGGGGCATAAAGGTG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	92	93			NA	NA	15		NA											NA				50786282		2196	4294	6490	SO:0001819	synonymous_variant			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592	9101	9101		Ubiquitin-specific peptidases	12631	protein-coding gene	gene with protein product		603158	ubiquitin specific protease 8		NA	12838346, 9582025, 24482476	Standard	NM_005154	NM_005154	NA	Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000425032.3:c.2145G>A	15.37:g.50786282G>A		NA	Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	37																																																																																				USP8-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000418317.1		+	ENST00000425032.3	Silent	SNP	15 : 50786282 - 50786282 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	392	42
PCBP2	5094	broad.mit.edu	37	12	53861069	53861069	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53861069G>A	ENST00000455667.3	+	9	750	c.686G>A	c.(685-687)gGa>gAa	p.G229E	PCBP2_ENST00000552819.1_Missense_Mutation_p.G233E|PCBP2_ENST00000548933.1_Missense_Mutation_p.G233E|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000447282.1_Missense_Mutation_p.G233E|PCBP2_ENST00000546463.1_Missense_Mutation_p.G260E|PCBP2_ENST00000437231.1_Missense_Mutation_p.G229E|PCBP2_ENST00000552296.2_Missense_Mutation_p.G260E|PCBP2_ENST00000439930.3_Missense_Mutation_p.G264E|PCBP2_ENST00000359282.5_Missense_Mutation_p.G229E|PCBP2_ENST00000549863.1_Missense_Mutation_p.G219E|PCBP2_ENST00000541275.1_Missense_Mutation_p.G260E|PCBP2_ENST00000603815.1_Missense_Mutation_p.G264E|PCBP2_ENST00000359462.5_Missense_Mutation_p.G264E			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	264					innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						GGCAACACCGGATTCAGTGGT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	139	147			NA	NA	12		NA											NA				53861069		2203	4300	6503	SO:0001583	missense			BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111	5094	5094			8648	protein-coding gene	gene with protein product	heterogenous nuclear ribonucleoprotein E2	601210	poly(rC)-binding protein 2		NA	8833161	Standard	NM_005016	NM_001098620	NA	Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000455667.3:c.686G>A	12.37:g.53861069G>A	ENSP00000388008:p.Gly229Glu	NA	Q6PKG5	37	CCDS44904.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959545	0.74016	.	.	ENSG00000197111	ENST00000541275;ENST00000359282;ENST00000447282;ENST00000437231;ENST00000439930;ENST00000549863;ENST00000359462;ENST00000550927;ENST00000546463;ENST00000552296;ENST00000552083;ENST00000552819;ENST00000455667;ENST00000548933;ENST00000379777;ENST00000553064	T;T;T;T;T;T;T;T;T;T;T;T	0.34859	1.84;1.41;1.44;1.4;1.41;1.45;1.34;1.34;1.81;1.4;1.4;1.44	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000005	T	0.56187	0.1968	M	0.64404	1.975	0.80722	D	1	P;P;B;B;D;B;B;B;B;B;B	0.63880	0.639;0.73;0.039;0.076;0.993;0.047;0.004;0.039;0.076;0.149;0.023	B;B;B;B;D;B;B;B;B;B;B	0.64595	0.305;0.382;0.067;0.236;0.927;0.082;0.037;0.067;0.104;0.236;0.03	T	0.44559	-0.9320	10	0.26408	T	0.33	.	18.6361	0.91379	0.0:0.0:1.0:0.0	.	233;260;221;264;206;233;229;260;229;264;260	B4DXP5;B4DLC0;F8VRG9;Q15366;F8VWQ4;Q32Q82;G3V0E8;F8VYL7;Q68Y55;Q6IPF4;A8K7X6	.;.;.;PCBP2_HUMAN;.;.;.;.;.;.;.	E	260;229;233;229;264;219;264;206;260;260;221;233;229;233;181;93	ENSP00000446130:G260E;ENSP00000352228:G229E;ENSP00000394116:G233E;ENSP00000390304:G229E;ENSP00000408949:G264E;ENSP00000447670:G219E;ENSP00000352438:G264E;ENSP00000448762:G260E;ENSP00000448927:G260E;ENSP00000449070:G233E;ENSP00000388008:G229E;ENSP00000449062:G233E	ENSP00000352228:G229E	G	+	2	0	PCBP2	52147336	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.923000	0.63412	2.702000	0.92279	0.655000	0.94253	GGA	PCBP2-006	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404035.4		+	ENST00000455667.3	Missense_Mutation	SNP	12 : 53861069 - 53861069 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	490	93
MPO	4353	broad.mit.edu	37	17	56356920	56356920	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56356920T>C	ENST00000225275.3	-	4	688	c.512A>G	c.(511-513)gAc>gGc	p.D171G	MPO_ENST00000340482.3_Missense_Mutation_p.D171G	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	171					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	GCGGTATTTGTCCTGCTCCGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	33	34			NA	NA	17		NA											NA				56356920		2203	4300	6503	SO:0001583	missense				CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	4353	4353	1.11.1.7		7218	protein-coding gene	gene with protein product		606989			NA		Standard		NM_000250	NA	Approved		uc002ivu.1	P05164		ENST00000225275.3:c.512A>G	17.37:g.56356920T>C	ENSP00000225275:p.Asp171Gly	NA	A1L4B8|Q14862|Q4PJH5|Q9UCL7	37	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	T	10.79	1.450950	0.26074	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.72505	-0.66;-0.66	5.04	3.95	0.45737	.	0.304797	0.36101	N	0.002783	T	0.65565	0.2703	M	0.72118	2.19	0.22779	N	0.998745	B	0.31968	0.349	B	0.30316	0.114	T	0.61860	-0.6976	10	0.49607	T	0.09	-28.6647	8.6186	0.33847	0.0:0.0911:0.0:0.9089	.	171	P05164	PERM_HUMAN	G	171	ENSP00000344419:D171G;ENSP00000225275:D171G	ENSP00000225275:D171G	D	-	2	0	MPO	53711919	0.174000	0.23070	0.965000	0.40720	0.175000	0.22909	0.275000	0.18698	1.904000	0.55121	0.379000	0.24179	GAC	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443971.1		-	ENST00000225275.3	Missense_Mutation	SNP	17 : 56356920 - 56356920 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	211	41
PCDHB13	56123	broad.mit.edu	37	5	140595695	140595695	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140595695C>A	ENST00000341948.4	+	1	2187	c.2000C>A	c.(1999-2001)tCc>tAc	p.S667Y		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	667	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACGGCTTCTCCCAGCCCTAC	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	42	40			NA	NA	5		NA											NA				140595695		2066	4072	6138	SO:0001583	missense			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372	56123	56123		Cadherins / Protocadherins : Clustered	8684	other	protocadherin		606339			NA	10380929	Standard	NM_018933	NM_018933	NA	Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.2000C>A	5.37:g.140595695C>A	ENSP00000345491:p.Ser667Tyr	NA		37	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	-	19.67	3.870659	0.72065	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.52057	0.68	3.3	3.3	0.37823	Cadherin (2);	.	.	.	.	T	0.71307	0.3324	M	0.88979	2.995	0.42107	D	0.991368	D	0.76494	0.999	D	0.69307	0.963	T	0.79892	-0.1611	9	0.87932	D	0	.	14.5914	0.68368	0.0:1.0:0.0:0.0	.	667	Q9Y5F0	PCDBD_HUMAN	Y	667;667;613	ENSP00000345491:S667Y	ENSP00000345491:S667Y	S	+	2	0	PCDHB13	140575879	0.951000	0.32395	0.997000	0.53966	0.794000	0.44872	2.747000	0.47475	1.576000	0.49790	0.298000	0.19748	TCC	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251810.1		+	ENST00000341948.4	Missense_Mutation	SNP	5 : 140595695 - 140595695 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1119	169
CAD	790	broad.mit.edu	37	2	27455960	27455960	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27455960C>T	ENST00000403525.1	+	18	2898	c.2754C>T	c.(2752-2754)acC>acT	p.T918T	CAD_ENST00000264705.4_Silent_p.T981T			P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	981	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CAGTCAGCACCGACTATGACA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													214	173	187			NA	NA	2		NA											NA				27455960		2203	4300	6503	SO:0001819	synonymous_variant			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	790	790	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010			NA	8619816, 2565865	Standard		NM_004341	NA	Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.2754C>T	2.37:g.27455960C>T		NA	D6W552|Q6P0Q0	37																																																																																				CAD-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000324970.1		+	ENST00000403525.1	Silent	SNP	2 : 27455960 - 27455960 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	381	16
LILRB2	10288	broad.mit.edu	37	19	54782896	54782896	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54782896G>A	ENST00000391748.1	-	6	853	c.726C>T	c.(724-726)acC>acT	p.T242T	LILRB2_ENST00000391749.4_Silent_p.T242T|LILRB2_ENST00000314446.5_Silent_p.T242T|LILRB2_ENST00000434421.1_Silent_p.T126T|LILRB2_ENST00000391746.1_Silent_p.T242T	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	242	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CACACTGGAGGGTCAGGCTTT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	98	98			NA	NA	19		NA											NA				54782896		2203	4300	6503	SO:0001819	synonymous_variant			AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042	NA	10288		Leukocyte immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	6606	protein-coding gene	gene with protein product		604815			NA	9151699, 9079806	Standard		XM_006722966	NA	Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391748.1:c.726C>T	19.37:g.54782896G>A		NA	O75017|Q8NHJ7|Q8NHJ8	37	CCDS42612.1																																																																																			LILRB2-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000139335.2		-	ENST00000391748.1	Silent	SNP	19 : 54782896 - 54782896 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	539	17
HIST1H2BJ	8970	broad.mit.edu	37	6	27100394	27100394	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27100394G>T	ENST00000607124.1	-	1	135	c.136C>A	c.(136-138)Ctg>Atg	p.L46M	HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.L46M|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.L46M			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	46					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						ACCTGCTTCAGAACCTTGTAC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													215	204	208			NA	NA	6		NA											NA				27100394		2203	4300	6503	SO:0001583	missense			X00088	CCDS4618.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000124635	ENSG00000124635	8970	8970		Histones / Replication-dependent	4761	protein-coding gene	gene with protein product		615044	H2B histone family, member R, histone 1, H2bj	H2BFR	NA	6647026, 12408966	Standard	NM_021058	NM_021058	NA	Approved	H2B/r	uc003niv.3	P06899	OTTHUMG00000014470	ENST00000607124.1:c.136C>A	6.37:g.27100394G>T	ENSP00000476136:p.Leu46Met	NA	B2R4J4|O60816	37	CCDS4618.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.989555	0.35131	.	.	ENSG00000124635	ENST00000541790;ENST00000339812	T;T	0.70516	-0.49;-0.49	4.17	2.38	0.29361	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.79112	0.4391	M	0.92219	3.285	0.42303	D	0.992184	P	0.49783	0.928	P	0.59761	0.863	T	0.80948	-0.1154	9	0.72032	D	0.01	.	8.9091	0.35541	0.1917:0.0:0.8083:0.0	.	46	P06899	H2B1J_HUMAN	M	46	ENSP00000445633:L46M;ENSP00000342886:L46M	ENSP00000342886:L46M	L	-	1	2	HIST1H2BJ	27208373	1.000000	0.71417	0.995000	0.50966	0.078000	0.17371	1.451000	0.35145	0.506000	0.28125	-0.914000	0.02751	CTG	HIST1H2BJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040138.2		-	ENST00000607124.1	Missense_Mutation	SNP	6 : 27100394 - 27100394 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1338	217
TANC2	26115	broad.mit.edu	37	17	61417467	61417467	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61417467T>G	ENST00000424789.2	+	10	1363	c.1359T>G	c.(1357-1359)gtT>gtG	p.V453V	TANC2_ENST00000389520.4_Silent_p.V453V	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	453							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TGCAGGTGGTTGCCTATCACT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	81	83			NA	NA	17		NA											NA				61417467		1986	4178	6164	SO:0001819	synonymous_variant			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921	26115	26115		Ankyrin repeat domain containing, Tetratricopeptide (TTC) repeat domain containing	30212	protein-coding gene	gene with protein product	rolling pebbles homolog B (Drosophila)	615047			NA		Standard		NM_025185	NA	Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.1359T>G	17.37:g.61417467T>G		NA	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	37	CCDS45754.1																																																																																			TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444765.1		+	ENST00000424789.2	Silent	SNP	17 : 61417467 - 61417467 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	188	15
SEMA5A	9037	broad.mit.edu	37	5	9122771	9122771	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:9122771G>A	ENST00000382496.5	-	14	2443	c.1778C>T	c.(1777-1779)tCc>tTc	p.S593F		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	593	TSP type-1 1.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GGCACACCTGGAACAGTTGGC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	42	41			NA	NA	5		NA											NA				9122771		2203	4300	6503	SO:0001583	missense			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902	9037	9037		Semaphorins	10736	protein-coding gene	gene with protein product		609297		SEMAF	NA	8817451, 9464278	Standard		NM_003966	NA	Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1778C>T	5.37:g.9122771G>A	ENSP00000371936:p.Ser593Phe	NA	D3DTC6|O60408|Q1RLL9	37	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509239	0.85282	.	.	ENSG00000112902	ENST00000382496	T	0.37584	1.19	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.56499	0.1989	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.60000	-0.7348	10	0.87932	D	0	.	15.7617	0.78087	0.0:0.0:1.0:0.0	.	593	Q13591	SEM5A_HUMAN	F	593	ENSP00000371936:S593F	ENSP00000371936:S593F	S	-	2	0	SEMA5A	9175771	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	9.587000	0.98229	2.388000	0.81334	0.557000	0.71058	TCC	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206989.2		-	ENST00000382496.5	Missense_Mutation	SNP	5 : 9122771 - 9122771 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	67
PITPNC1	26207	broad.mit.edu	37	17	65671660	65671660	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65671660T>C	ENST00000580974.1	+	8	1378		c.e8+2		PITPNC1_ENST00000581322.1_Splice_Site|PITPNC1_ENST00000299954.9_Splice_Site|PITPNC1_ENST00000335257.6_Splice_Site	NM_012417.3|NM_181671.2	NP_036549.2|NP_858057.1	Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	NA					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			AGTGGTATGGTAAGTCAATTT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													182	171	174			NA	NA	17		NA											NA				65671660		1917	4128	6045	SO:0001630	splice_region_variant			AF171102	CCDS58587.1, CCDS58588.1	17q24.3	2008-02-05					26207	26207			21045	protein-coding gene	gene with protein product		605134			NA	10531358	Standard	NM_012417	NM_012417	NA	Approved	RDGBB1, RDGBB, RDGB-BETA	uc002jgc.4	Q9UKF7		ENST00000580974.1:c.682+2T>C	17.37:g.65671660T>C		NA	Q96I07	37	CCDS58587.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.874773	0.91664	.	.	ENSG00000154217	ENST00000335257;ENST00000299954	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0985	0.81148	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PITPNC1	63102122	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.915000	0.87484	2.216000	0.71823	0.443000	0.29094	.	PITPNC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447193.2	Intron	+	ENST00000580974.1	Splice_Site	SNP	17 : 65671660 - 65671660 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	490	84
TNKS1BP1	85456	broad.mit.edu	37	11	57077332	57077332	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57077332C>T	ENST00000532437.1	-	5	3164	c.2853G>A	c.(2851-2853)gaG>gaA	p.E951E	TNKS1BP1_ENST00000530920.1_5'UTR|TNKS1BP1_ENST00000358252.3_Silent_p.E951E			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	951	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TCTTCCCAAACTCCTGTTCCT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	108	104			NA	NA	11		NA											NA				57077332		2201	4296	6497	SO:0001819	synonymous_variant			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115	85456	85456			19081	protein-coding gene	gene with protein product		607104			NA	11854288	Standard	NM_033396	NM_033396	NA	Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.2853G>A	11.37:g.57077332C>T		NA	A7E2F8|Q6PJ35|Q6ZV74	37	CCDS7951.1																																																																																			TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392455.1		-	ENST00000532437.1	Silent	SNP	11 : 57077332 - 57077332 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1028	185
TOM1L2	146691	broad.mit.edu	37	17	17766150	17766150	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17766150T>A	ENST00000535933.1	-	10	1044	c.938A>T	c.(937-939)gAg>gTg	p.E313V	TOM1L2_ENST00000581396.1_Missense_Mutation_p.E316V|TOM1L2_ENST00000318094.10_Missense_Mutation_p.E321V|TOM1L2_ENST00000395739.4_Missense_Mutation_p.E321V|TOM1L2_ENST00000540946.1_Missense_Mutation_p.E268V|TOM1L2_ENST00000379504.3_Missense_Mutation_p.E366V|TOM1L2_ENST00000542206.1_Missense_Mutation_p.E218V|TOM1L2_ENST00000478943.1_Missense_Mutation_p.E99V			Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	366					intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					ACTGACGCTCTCTGTCCCCAA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(192;2505 2909 14455 25269)							NA				0													118	111	114			NA	NA	17		NA											NA				17766150		2203	4300	6503	SO:0001583	missense			AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662	146691	146691			11984	protein-coding gene	gene with protein product		615519	target of myb1 (chicken) homolog-like 1		NA	10036180	Standard		NM_001082968	NA	Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000535933.1:c.938A>T	17.37:g.17766150T>A	ENSP00000438621:p.Glu313Val	NA	B7Z7F4|Q86V61|Q8TDE7|Q96M88	37		.	.	.	.	.	.	.	.	.	.	T	17.70	3.453805	0.63290	.	.	ENSG00000175662	ENST00000379504;ENST00000318094;ENST00000395739;ENST00000535933;ENST00000540946;ENST00000542206	T;T;T;T;T	0.47869	1.85;1.84;1.83;1.82;0.83	5.88	5.88	0.94601	.	0.480039	0.25726	N	0.028717	T	0.46870	0.1415	N	0.14661	0.345	0.45528	D	0.998487	B;P;P;P;P;P	0.52170	0.052;0.951;0.774;0.497;0.712;0.883	B;P;B;B;B;B	0.55871	0.057;0.786;0.265;0.162;0.247;0.33	T	0.44498	-0.9324	10	0.33141	T	0.24	-10.1202	16.2879	0.82732	0.0:0.0:0.0:1.0	.	268;218;313;321;366;316	B7Z2U2;F5H3S6;B7Z2L7;Q6ZVM7-3;Q6ZVM7;Q6ZVM7-2	.;.;.;.;TM1L2_HUMAN;.	V	366;316;321;313;268;218	ENSP00000368818:E366V;ENSP00000379088:E321V;ENSP00000438621:E313V;ENSP00000437655:E268V;ENSP00000445188:E218V	ENSP00000312860:E316V	E	-	2	0	TOM1L2	17706875	1.000000	0.71417	0.953000	0.39169	0.994000	0.84299	7.866000	0.87056	2.242000	0.73789	0.533000	0.62120	GAG	TOM1L2-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000443248.1		-	ENST00000535933.1	Missense_Mutation	SNP	17 : 17766150 - 17766150 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	506	13
OR9G1	390174	broad.mit.edu	37	11	56467921	56467921	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56467921C>T	ENST00000312153.1	+	1	58	c.58C>T	c.(58-60)Cca>Tca	p.P20S		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1	NA										breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						CACCACAGACCCAGGAATGCA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	119	125			NA	NA	11		NA											NA				56467921		2201	4296	6497	SO:0001583	missense			AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914	390174	390174		GPCR / Class A : Olfactory receptors	15319	protein-coding gene	gene with protein product				OR9G5	NA		Standard	NM_001005213	NM_001005213	NA	Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.58C>T	11.37:g.56467921C>T	ENSP00000309012:p.Pro20Ser	NA		37	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	C	4.770	0.143221	0.09083	.	.	ENSG00000174914	ENST00000312153	T	0.00428	7.44	4.52	0.481	0.16809	.	0.000000	0.52532	D	0.000071	T	0.00328	0.0010	M	0.64170	1.965	0.09310	N	1	B	0.12630	0.006	B	0.15870	0.014	T	0.46762	-0.9168	10	0.49607	T	0.09	-25.9779	4.4132	0.11443	0.1288:0.597:0.1252:0.149	.	20	Q8NH87	OR9G1_HUMAN	S	20	ENSP00000309012:P20S	ENSP00000309012:P20S	P	+	1	0	OR9G1	56224497	0.000000	0.05858	0.012000	0.15200	0.236000	0.25371	-0.416000	0.07097	0.229000	0.21039	-0.252000	0.11476	CCA	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393253.1		+	ENST00000312153.1	Missense_Mutation	SNP	11 : 56467921 - 56467921 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	486	46
CD300A	11314	broad.mit.edu	37	17	72477915	72477915	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72477915G>A	ENST00000577511.1	+	7	1106	c.327G>A	c.(325-327)tgG>tgA	p.W109*	CD300A_ENST00000360141.3_Nonsense_Mutation_p.W239*|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000361933.3_Nonsense_Mutation_p.W43*|CD300A_ENST00000310828.5_Nonsense_Mutation_p.W126*			Q9UGN4	CLM8_HUMAN	CD300a molecule	239	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						TGCTGATGTGGCCTCTGCAGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	43	47			NA	NA	17		NA											NA				72477915		2203	4300	6503	SO:0001587	stop_gained			BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851	11314	11314		CD molecules, Immunoglobulin superfamily / V-set domain containing	19319	protein-coding gene	gene with protein product		606790	CD300a antigen		NA	9701027, 10746781	Standard	NM_007261	NM_007261	NA	Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000577511.1:c.327G>A	17.37:g.72477915G>A	ENSP00000463189:p.Trp109*	NA	A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	37		.	.	.	.	.	.	.	.	.	.	G	12.92	2.082356	0.36758	.	.	ENSG00000167851	ENST00000361933;ENST00000360141;ENST00000310828	.	.	.	4.11	2.01	0.26516	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.1405	0.25554	0.0:0.2098:0.6069:0.1833	.	.	.	.	X	43;239;126	.	ENSP00000308188:W126X	W	+	3	0	CD300A	69989510	0.001000	0.12720	0.000000	0.03702	0.034000	0.12701	0.979000	0.29500	0.627000	0.30340	0.561000	0.74099	TGG	CD300A-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000443658.1		+	ENST00000577511.1	Nonsense_Mutation	SNP	17 : 72477915 - 72477915 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	116	17
OR4A5	81318	broad.mit.edu	37	11	51411819	51411819	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:51411819C>A	ENST00000319760.6	-	1	629	c.577G>T	c.(577-579)Ggc>Tgc	p.G193C		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ACAGTGAGGCCTATAAAGTAG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	54	56			NA	NA	11		NA											NA				51411819		2201	4295	6496	SO:0001583	missense			AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840	81318	81318		GPCR / Class A : Olfactory receptors	15162	protein-coding gene	gene with protein product					NA		Standard	NM_001005272	NM_001005272	NA	Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.577G>T	11.37:g.51411819C>A	ENSP00000367664:p.Gly193Cys	NA	Q6IF84	37	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	8.484	0.860521	0.17178	.	.	ENSG00000221840	ENST00000319760	T	0.00130	8.69	1.93	1.93	0.25924	GPCR, rhodopsin-like superfamily (1);	0.135995	0.33364	N	0.004990	T	0.00440	0.0014	M	0.89095	3.005	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.37056	-0.9722	10	0.87932	D	0	.	4.5006	0.11862	0.0:0.804:0.0:0.196	.	193	Q8NH83	OR4A5_HUMAN	C	193	ENSP00000367664:G193C	ENSP00000367664:G193C	G	-	1	0	OR4A5	51268395	0.000000	0.05858	0.140000	0.22221	0.300000	0.27592	0.612000	0.24283	1.394000	0.46624	0.162000	0.16502	GGC	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391399.1		-	ENST00000319760.6	Missense_Mutation	SNP	11 : 51411819 - 51411819 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	242	35
CYP1A2	1544	broad.mit.edu	37	15	75044494	75044494	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75044494C>T	ENST00000343932.4	+	5	1135	c.1072C>T	c.(1072-1074)Cgg>Tgg	p.R358W		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	358					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	GCGGCGGCCCCGGCTCTCTGA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	80	78			NA	NA	15		NA											NA				75044494		2197	4296	6493	SO:0001583	missense			AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1544	1544	1.14.14.1	Cytochrome P450s	2596	protein-coding gene	gene with protein product		124060	cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2		NA	15128046	Standard	NM_000761	NM_000761	NA	Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.1072C>T	15.37:g.75044494C>T	ENSP00000342007:p.Arg358Trp	NA	Q16754|Q6NWU5|Q9BXX7|Q9UK49	37	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.932500	0.34096	.	.	ENSG00000140505	ENST00000343932	T	0.79554	-1.28	4.71	3.77	0.43336	.	0.397357	0.27402	N	0.019535	T	0.81870	0.4914	M	0.92507	3.315	0.36267	D	0.854938	B	0.34399	0.452	B	0.20767	0.031	D	0.86203	0.1620	10	0.72032	D	0.01	.	12.0606	0.53561	0.3132:0.6867:0.0:0.0	.	358	P05177-2	.	W	358	ENSP00000342007:R358W	ENSP00000342007:R358W	R	+	1	2	CYP1A2	72831547	0.000000	0.05858	0.983000	0.44433	0.560000	0.35617	-0.541000	0.06099	1.156000	0.42514	0.450000	0.29827	CGG	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421263.2		+	ENST00000343932.4	Missense_Mutation	SNP	15 : 75044494 - 75044494 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	826	127
GNA15	2769	broad.mit.edu	37	19	3148678	3148678	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3148678C>T	ENST00000262958.3	+	2	493	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	79					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		CAAGGGCTTCCGGCCCCTGGT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	32	35			NA	NA	19		NA											NA				3148678		2199	4297	6496	SO:0001583	missense				CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558	2769	2769			4383	protein-coding gene	gene with protein product		139314			NA	1302014	Standard	NM_002068	NM_002068	NA	Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.235C>T	19.37:g.3148678C>T	ENSP00000262958:p.Arg79Trp	NA	O75247|Q53XK2	37	CCDS12104.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.808551	0.50421	.	.	ENSG00000060558	ENST00000262958	D	0.90676	-2.71	4.98	-3.68	0.04463	G protein alpha subunit, helical insertion (2);	0.342873	0.26507	N	0.023999	D	0.90445	0.7008	M	0.72353	2.195	0.25551	N	0.987082	D	0.62365	0.991	P	0.55303	0.773	D	0.84788	0.0777	10	0.87932	D	0	.	8.4575	0.32908	0.4777:0.2004:0.3219:0.0	.	79	P30679	GNA15_HUMAN	W	79	ENSP00000262958:R79W	ENSP00000262958:R79W	R	+	1	2	GNA15	3099678	0.718000	0.27976	0.063000	0.19743	0.252000	0.25951	0.214000	0.17541	-0.102000	0.12197	0.456000	0.33151	CGG	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452320.2		+	ENST00000262958.3	Missense_Mutation	SNP	19 : 3148678 - 3148678 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	84	18
BPNT1	10380	broad.mit.edu	37	1	220253166	220253166	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220253166A>G	ENST00000469520.2	-	3	472	c.23T>C	c.(22-24)tTg>tCg	p.L8S	BPNT1_ENST00000544404.1_Intron|BPNT1_ENST00000414869.2_Missense_Mutation_p.L8S|BPNT1_ENST00000322067.7_Missense_Mutation_p.L8S|BPNT1_ENST00000482136.1_Intron|BPNT1_ENST00000354807.3_Missense_Mutation_p.L8S			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	8					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		CAACCGCATCAACACAGTGTT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	87	91			NA	NA	1		NA											NA				220253166		1903	4113	6016	SO:0001583	missense			AF125042	CCDS41469.1, CCDS65787.1, CCDS65788.1	1q42	2008-02-05			ENSG00000162813	ENSG00000162813	10380	10380	3.1.3.7		1096	protein-coding gene	gene with protein product		604053			NA	10224133	Standard	NM_006085	XM_005272998	NA	Approved		uc001hma.3	O95861	OTTHUMG00000037435	ENST00000469520.2:c.23T>C	1.37:g.220253166A>G	ENSP00000446828:p.Leu8Ser	NA	A8K7C8|D3DTA9|Q8WVL5|Q9UGJ3	37	CCDS41469.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.728609	0.69074	.	.	ENSG00000162813	ENST00000322067;ENST00000469520;ENST00000354807;ENST00000302686;ENST00000414869;ENST00000463953;ENST00000498791;ENST00000498237	D;D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.51	5.51	0.81932	.	0.145283	0.42172	D	0.000758	D	0.93716	0.7992	M	0.91038	3.17	0.80722	D	1	D;D;D	0.89917	0.989;1.0;1.0	D;D;D	0.91635	0.965;0.998;0.999	D	0.94960	0.8107	10	0.87932	D	0	.	14.6341	0.68676	1.0:0.0:0.0:0.0	.	8;8;8	B4DUS9;A6NF51;O95861	.;.;BPNT1_HUMAN	S	8	ENSP00000318852:L8S;ENSP00000446828:L8S;ENSP00000346862:L8S;ENSP00000410348:L8S;ENSP00000446953:L8S;ENSP00000446850:L8S;ENSP00000449883:L8S	ENSP00000307087:L8S	L	-	2	0	BPNT1	218319789	1.000000	0.71417	0.997000	0.53966	0.557000	0.35523	7.179000	0.77665	2.112000	0.64535	0.472000	0.43445	TTG	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091137.2		-	ENST00000469520.2	Missense_Mutation	SNP	1 : 220253166 - 220253166 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	339	56
KCTD3	51133	broad.mit.edu	37	1	215793742	215793742	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215793742G>T	ENST00000259154.4	+	18	2524	c.2230G>T	c.(2230-2232)Gaa>Taa	p.E744*	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	744						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		AAGGTCATCAGAAGATGAAAA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	68	66			NA	NA	1		NA											NA				215793742		2198	4297	6495	SO:0001587	stop_gained			AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636	51133	51133			21305	protein-coding gene	gene with protein product		613272	potassium channel tetramerisation domain containing 3		NA	10508479	Standard	NM_016121	NM_016121	NA	Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.2230G>T	1.37:g.215793742G>T	ENSP00000259154:p.Glu744*	NA	A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	37	CCDS1515.1	.	.	.	.	.	.	.	.	.	.	G	41	9.094347	0.99064	.	.	ENSG00000136636	ENST00000259154	.	.	.	5.81	4.9	0.64082	.	0.468579	0.24403	N	0.038832	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-34.727	14.6228	0.68599	0.0697:0.0:0.9303:0.0	.	.	.	.	X	744	.	ENSP00000259154:E744X	E	+	1	0	KCTD3	213860365	1.000000	0.71417	0.819000	0.32651	0.993000	0.82548	8.169000	0.89672	1.456000	0.47831	0.655000	0.94253	GAA	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089871.2		+	ENST00000259154.4	Nonsense_Mutation	SNP	1 : 215793742 - 215793742 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	540	120
KSR1	8844	broad.mit.edu	37	17	25909842	25909842	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25909842T>C	ENST00000398988.3	+	5	725	c.280T>C	c.(280-282)Tca>Cca	p.S94P	KSR1_ENST00000268763.6_Missense_Mutation_p.S94P|KSR1_ENST00000509603.2_Missense_Mutation_p.S231P|KSR1_ENST00000319524.6_Missense_Mutation_p.S231P	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	229					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CATCTCCGTGTCAGCTCTGCC	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(88;1120 1336 6324 10502 16832)							NA				0													24	30	28			NA	NA	17		NA											NA				25909842		2098	4216	6314	SO:0001583	missense			U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068	8844	8844			6465	protein-coding gene	gene with protein product		601132	kinase suppressor of ras	KSR	NA	8521512	Standard	NM_014238	XM_006722151	NA	Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000398988.3:c.280T>C	17.37:g.25909842T>C	ENSP00000381958:p.Ser94Pro	NA	Q13476	37	CCDS58532.1	.	.	.	.	.	.	.	.	.	.	T	13.00	2.106036	0.37145	.	.	ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982	T;T;T	0.00473	7.18;7.18;7.18	5.7	5.7	0.88788	.	0.124970	0.56097	D	0.000026	T	0.00845	0.0028	L	0.46157	1.445	0.41067	D	0.985425	D	0.65815	0.995	P	0.60345	0.873	D	0.87448	0.2399	10	0.26408	T	0.33	.	14.7786	0.69749	0.0:0.0:0.0:1.0	.	229	Q8IVT5	KSR1_HUMAN	P	231;231;94;94	ENSP00000323178:S231P;ENSP00000438795:S231P;ENSP00000268763:S94P	ENSP00000268763:S94P	S	+	1	0	KSR1	22933969	1.000000	0.71417	0.998000	0.56505	0.165000	0.22458	3.373000	0.52394	2.176000	0.68965	0.374000	0.22700	TCA	KSR1-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255074.2		+	ENST00000398988.3	Missense_Mutation	SNP	17 : 25909842 - 25909842 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	155	36
TRAPPC6A	79090	broad.mit.edu	37	19	45668402	45668402	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45668402G>A	ENST00000592647.1	-	2	135				TRAPPC6A_ENST00000006275.4_Silent_p.G59G|TRAPPC6A_ENST00000585934.1_Silent_p.G45G|TRAPPC6A_ENST00000588062.1_Intron			O75865	TPC6A_HUMAN	trafficking protein particle complex 6A	NA					vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)		CTAGAGCCTGGCCCACACGGA	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	41	43			NA	NA	19		NA											NA				45668402		2202	4296	6498	SO:0001627	intron_variant			AF161407	CCDS12655.1, CCDS59395.1, CCDS59396.1, CCDS59397.1	19q13.32	2012-10-02				ENSG00000007255	79090	79090		Trafficking protein particle complex	23069	protein-coding gene	gene with protein product		610396			NA		Standard	NM_024108	NM_024108	NA	Approved	TRS33, MGC2650, HSPC289	uc002pav.4	O75865		ENST00000592647.1:c.127-174C>T	19.37:g.45668402G>A		NA	Q9BQ45|Q9P092	37	CCDS59395.1																																																																																			TRAPPC6A-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457557.1		-	ENST00000592647.1	Intron	SNP	19 : 45668402 - 45668402 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	91	22
RBFA	79863	broad.mit.edu	37	18	77796699	77796699	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77796699G>T	ENST00000306735.5	+	2	328	c.190G>T	c.(190-192)Ggt>Tgt	p.G64C	RP11-795F19.5_ENST00000569722.1_Intron|RBFA_ENST00000586847.1_3'UTR|RBFA_ENST00000262197.7_Missense_Mutation_p.G64C	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	64					rRNA processing	mitochondrion				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						TCCTTCCTTGGGTTCTCACTC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	107	108			NA	NA	18		NA											NA				77796699		2203	4300	6503	SO:0001583	missense			BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546	79863	79863			26120	protein-coding gene	gene with protein product			chromosome 18 open reading frame 22	C18orf22	NA	12477932	Standard	NM_024805	NM_024805	NA	Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.190G>T	18.37:g.77796699G>T	ENSP00000305696:p.Gly64Cys	NA	Q6PF07|Q8WZ65|Q9H776	37	CCDS12021.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081946	0.36758	.	.	ENSG00000101546	ENST00000262197;ENST00000306735	T;T	0.42513	0.97;0.97	4.04	3.17	0.36434	.	0.115168	0.39083	N	0.001479	T	0.52256	0.1723	L	0.49126	1.545	0.50813	D	0.999899	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.963	T	0.52034	-0.8629	10	0.87932	D	0	-7.0185	6.2172	0.20661	0.2242:0.0:0.7758:0.0	.	64;64	Q8N0V3-2;Q8N0V3	.;RBFA_HUMAN	C	64	ENSP00000262197:G64C;ENSP00000305696:G64C	ENSP00000262197:G64C	G	+	1	0	RBFA	75897687	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	2.016000	0.40971	0.909000	0.36697	0.561000	0.74099	GGT	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256436.2		+	ENST00000306735.5	Missense_Mutation	SNP	18 : 77796699 - 77796699 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	218	40
VWA5A	4013	broad.mit.edu	37	11	123993815	123993815	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123993815G>T	ENST00000392744.4	+	7	2285	c.957G>T	c.(955-957)caG>caT	p.Q319H	VWA5A_ENST00000360334.4_Missense_Mutation_p.Q303H|VWA5A_ENST00000361352.5_Missense_Mutation_p.Q303H|VWA5A_ENST00000449321.1_Missense_Mutation_p.Q303H|VWA5A_ENST00000392748.1_Missense_Mutation_p.Q303H|VWA5A_ENST00000456829.2_Missense_Mutation_p.Q303H			O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	303	VWFA.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						ATACATCTCAGCTGCGAATAC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	64	67			NA	NA	11		NA											NA				123993815		2201	4299	6500	SO:0001583	missense			AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002	4013	4013			6658	protein-coding gene	gene with protein product		602929	loss of heterozygosity, 11, chromosomal region 2, gene A	LOH11CR2A	NA	9417908, 14504409	Standard	NM_014622	NM_001130142	NA	Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000392744.4:c.957G>T	11.37:g.123993815G>T	ENSP00000376501:p.Gln319His	NA	Q6UN19|Q6UN20|Q9BVF8	37		.	.	.	.	.	.	.	.	.	.	G	15.33	2.802283	0.50315	.	.	ENSG00000110002	ENST00000456829;ENST00000360334;ENST00000392748;ENST00000361352;ENST00000449321;ENST00000392744	T;T;T;T;T;T	0.22336	2.54;1.96;2.54;2.17;2.17;2.16	5.96	0.729	0.18266	von Willebrand factor, type A (3);	0.387974	0.28940	N	0.013646	T	0.41073	0.1143	M	0.83312	2.635	0.09310	N	0.999999	P;D	0.89917	0.902;1.0	B;D	0.77557	0.411;0.99	T	0.17653	-1.0362	10	0.54805	T	0.06	-12.7857	5.2398	0.15465	0.4039:0.1379:0.4582:0.0	.	319;303	B4DHS6;O00534	.;VMA5A_HUMAN	H	303;303;303;303;303;319	ENSP00000407726:Q303H;ENSP00000353485:Q303H;ENSP00000376504:Q303H;ENSP00000355070:Q303H;ENSP00000404683:Q303H;ENSP00000376501:Q319H	ENSP00000353485:Q303H	Q	+	3	2	VWA5A	123499025	0.004000	0.15560	0.000000	0.03702	0.003000	0.03518	0.323000	0.19593	-0.104000	0.12154	-0.150000	0.13652	CAG	VWA5A-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000387278.1		+	ENST00000392744.4	Missense_Mutation	SNP	11 : 123993815 - 123993815 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	209	53
CDHR2	54825	broad.mit.edu	37	5	176004439	176004439	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176004439G>A	ENST00000510636.1	+	13	1508	c.1234G>A	c.(1234-1236)Gat>Aat	p.D412N	CDHR2_ENST00000506348.1_Missense_Mutation_p.D412N|CDHR2_ENST00000261944.5_Missense_Mutation_p.D412N	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	412	Cadherin 4.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GGGGGGCCCCGATGCAGAAGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	28	27			NA	NA	5		NA											NA				176004439		2203	4300	6503	SO:0001583	missense			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276	54825	54825		Cadherins / Cadherin-related	18231	protein-coding gene	gene with protein product	protocadherin LKC		protocadherin 24	PCDH24	NA	11082270, 12117771	Standard	NM_017675	NM_001171976	NA	Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1234G>A	5.37:g.176004439G>A	ENSP00000424565:p.Asp412Asn	NA	A6NC80|Q9NXP8	37	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202505	0.38905	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.61392	0.11;0.11;0.11	4.16	3.28	0.37604	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.44307	0.1287	L	0.37750	1.13	0.09310	N	0.999999	D	0.53745	0.962	B	0.41510	0.359	T	0.18178	-1.0345	9	0.31617	T	0.26	-10.8328	8.1509	0.31141	0.2085:0.0:0.7914:0.0	.	412	Q9BYE9	CDHR2_HUMAN	N	412	ENSP00000424565:D412N;ENSP00000261944:D412N;ENSP00000421078:D412N	ENSP00000261944:D412N	D	+	1	0	CDHR2	175937045	0.000000	0.05858	0.003000	0.11579	0.107000	0.19398	0.006000	0.13152	1.094000	0.41399	0.448000	0.29417	GAT	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372201.1		+	ENST00000510636.1	Missense_Mutation	SNP	5 : 176004439 - 176004439 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	108	8
PAM	5066	broad.mit.edu	37	5	102343346	102343346	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:102343346A>G	ENST00000438793.3	+	19	2670	c.2200A>G	c.(2200-2202)Att>Gtt	p.I734V	PAM_ENST00000274392.9_Missense_Mutation_p.I637V|PAM_ENST00000455264.2_Missense_Mutation_p.I734V|PAM_ENST00000346918.2_Missense_Mutation_p.I734V|PAM_ENST00000348126.2_Missense_Mutation_p.I627V|PAM_ENST00000379787.4_Missense_Mutation_p.I114V|PAM_ENST00000304400.7_Missense_Mutation_p.I734V	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	734	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TGTATTTGCAATTTCATATAT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	85	84			NA	NA	5		NA											NA				102343346		2203	4300	6503	SO:0001583	missense			AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	5066	5066	1.14.17.3		8596	protein-coding gene	gene with protein product	peptidyl-alpha-hydroxyglycine alpha-amidating lyase, peptidylglycine alpha-hydroxylating monooxygenase	170270			NA	2357221	Standard	NM_000919	NM_000919	NA	Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.2200A>G	5.37:g.102343346A>G	ENSP00000396493:p.Ile734Val	NA	A6NMR0|A8K293|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	37	CCDS54885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.315|7.315	0.615794|0.615794	0.14129|0.14129	.|.	.|.	ENSG00000145730|ENSG00000145730	ENST00000438793;ENST00000346918;ENST00000348126;ENST00000379787;ENST00000304400;ENST00000274392;ENST00000455264|ENST00000379799	D;D;D;T;D;D;D|.	0.89485|.	-2.52;-2.52;-2.52;0.61;-2.52;-2.52;-2.52|.	5.28|5.28	5.28|5.28	0.74379|0.74379	Six-bladed beta-propeller, TolB-like (1);|.	0.097209|.	0.64402|.	D|.	0.000001|.	T|T	0.31263|0.31263	0.0791|0.0791	N|N	0.05306|0.05306	-0.075|-0.075	0.45634|0.45634	D|D	0.998561|0.998561	B;B;B;B;B;B|.	0.14805|.	0.003;0.006;0.003;0.004;0.011;0.011|.	B;B;B;B;B;B|.	0.22880|.	0.042;0.019;0.042;0.01;0.042;0.042|.	T|T	0.17930|0.17930	-1.0353|-1.0353	10|5	0.02654|.	T|.	1|.	.|.	7.4511|7.4511	0.27240|0.27240	0.838:0.0:0.162:0.0|0.838:0.0:0.162:0.0	.|.	637;734;734;734;734;627|.	F8WE90;P19021;P19021-4;P19021-3;P19021-5;P19021-2|.	.;AMD_HUMAN;.;.;.;.|.	V|S	734;734;627;114;734;637;734|506	ENSP00000396493:I734V;ENSP00000282992:I734V;ENSP00000314638:I627V;ENSP00000369113:I114V;ENSP00000306100:I734V;ENSP00000274392:I637V;ENSP00000403461:I734V|.	ENSP00000274392:I637V|.	I|N	+|+	1|2	0|0	PAM|PAM	102371245|102371245	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.422000|3.422000	0.52749|0.52749	2.210000|2.210000	0.71456|0.71456	0.533000|0.533000	0.62120|0.62120	ATT|AAT	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250640.2		+	ENST00000438793.3	Missense_Mutation	SNP	5 : 102343346 - 102343346 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	239	49
FLRT2	23768	broad.mit.edu	37	14	86089311	86089311	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:86089311C>T	ENST00000330753.4	+	2	2220	c.1453C>T	c.(1453-1455)Ccc>Tcc	p.P485S	FLRT2_ENST00000554746.1_Missense_Mutation_p.P485S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	485	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TAACTTAGAGCCCCGATCCAC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	128	135			NA	NA	14		NA											NA				86089311		2203	4300	6503	SO:0001583	missense			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070	23768	23768		Fibronectin type III domain containing	3761	protein-coding gene	gene with protein product		604807			NA	10644439, 16872596	Standard		XM_005267490	NA	Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1453C>T	14.37:g.86089311C>T	ENSP00000332879:p.Pro485Ser	NA	A0AV84|B7ZLP3	37	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.544586	0.45280	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.68479	-0.33;-0.33	5.87	5.87	0.94306	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.68348	0.2991	L	0.55990	1.75	0.80722	D	1	P	0.44139	0.827	B	0.42087	0.375	T	0.71686	-0.4518	10	0.87932	D	0	-27.8567	20.5827	0.99408	0.0:1.0:0.0:0.0	.	485	O43155	FLRT2_HUMAN	S	485;485;138	ENSP00000332879:P485S;ENSP00000451050:P485S	ENSP00000332879:P485S	P	+	1	0	FLRT2	85159064	1.000000	0.71417	1.000000	0.80357	0.281000	0.26958	5.999000	0.70665	2.941000	0.99782	0.655000	0.94253	CCC	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413193.1		+	ENST00000330753.4	Missense_Mutation	SNP	14 : 86089311 - 86089311 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	761	128
ACACB	32	broad.mit.edu	37	12	109577565	109577565	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109577565G>A	ENST00000338432.7	+	2	474	c.355G>A	c.(355-357)Ggg>Agg	p.G119R	ACACB_ENST00000377848.3_Missense_Mutation_p.G119R|ACACB_ENST00000377854.5_Missense_Mutation_p.G119R			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	119					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TCAAGCCAACGGGACTGGGAC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	122	121			NA	NA	12		NA											NA				109577565		2203	4300	6503	SO:0001583	missense			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	32	32	6.4.1.2		85	protein-coding gene	gene with protein product	acetyl-CoA carboxylase 2	601557	acetyl-Coenzyme A carboxylase beta		NA	8670171	Standard	NM_001093	NM_001093	NA	Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.355G>A	12.37:g.109577565G>A	ENSP00000341044:p.Gly119Arg	NA	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	7.030	0.560373	0.13498	.	.	ENSG00000076555	ENST00000338432;ENST00000539864;ENST00000377848;ENST00000377854	T;T;T;T	0.51071	2.2;0.72;2.2;2.2	4.33	-1.05	0.10036	.	1.686470	0.02762	N	0.118751	T	0.31734	0.0806	N	0.25647	0.755	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.06303	-1.0834	10	0.23891	T	0.37	.	3.5659	0.07900	0.4306:0.0:0.3952:0.1742	.	119	O00763	ACACB_HUMAN	R	119;94;119;119	ENSP00000341044:G119R;ENSP00000443494:G94R;ENSP00000367079:G119R;ENSP00000367085:G119R	ENSP00000341044:G119R	G	+	1	0	ACACB	108061948	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.361000	0.20267	-0.317000	0.08677	-0.136000	0.14681	GGG	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403077.1		+	ENST00000338432.7	Missense_Mutation	SNP	12 : 109577565 - 109577565 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1294	234
CACNA1I	8911	broad.mit.edu	37	22	40060864	40060864	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40060864G>A	ENST00000402142.3	+	21	3787	c.3787G>A	c.(3787-3789)Ggg>Agg	p.G1263R	CACNA1I_ENST00000404898.1_Missense_Mutation_p.G1228R|CACNA1I_ENST00000407673.1_Missense_Mutation_p.G1228R|CACNA1I_ENST00000401624.1_Missense_Mutation_p.G1263R|CACNA1I_ENST00000400164.3_Missense_Mutation_p.G1228R|CACNA1I_ENST00000336649.4_Missense_Mutation_p.G1269R	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1263					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGCCTCAGCCGGGGGAGCCAA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	62	60			NA	NA	22		NA											NA				40060864		2071	4190	6261	SO:0001583	missense			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346	8911	8911		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1396	protein-coding gene	gene with protein product		608230			NA	10454147, 16382099	Standard	NM_001003406	NM_021096	NA	Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.3787G>A	22.37:g.40060864G>A	ENSP00000385019:p.Gly1263Arg	NA	B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	37	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305576	0.60305	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98512	-4.97;-4.97;-4.97;-4.97;-4.97;-4.97	4.3	4.3	0.51218	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98852	0.9612	M	0.80028	2.48	0.58432	D	0.999991	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.976;1.0;0.995;0.999	D	0.99782	1.1028	10	0.62326	D	0.03	.	16.7671	0.85527	0.0:0.0:1.0:0.0	.	1228;1263;1228;1263	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	R	1263;1228;1263;1228;1269;1228	ENSP00000385019:G1263R;ENSP00000384093:G1228R;ENSP00000383887:G1263R;ENSP00000385680:G1228R;ENSP00000337829:G1269R;ENSP00000383028:G1228R	ENSP00000337829:G1269R	G	+	1	0	CACNA1I	38390810	1.000000	0.71417	0.893000	0.35052	0.086000	0.17979	6.706000	0.74649	1.950000	0.56595	0.462000	0.41574	GGG	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321290.1		+	ENST00000402142.3	Missense_Mutation	SNP	22 : 40060864 - 40060864 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	378	31
GRB7	2886	broad.mit.edu	37	17	37901227	37901227	+	Missense_Mutation	SNP	G	G	A	rs147188188		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37901227G>A	ENST00000309156.4	+	9	1258	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	GRB7_ENST00000309185.3_Missense_Mutation_p.R334H|GRB7_ENST00000445327.2_Missense_Mutation_p.R357H|GRB7_ENST00000394209.2_Missense_Mutation_p.R334H|GRB7_ENST00000394211.3_Missense_Mutation_p.R334H|GRB7_ENST00000394204.1_Missense_Mutation_p.R334H	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	334	PH.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCTGCCTTCCGCCTCTTCAAG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4403	2.1+/-5.4	0,1,2201	28	31	30		1001,1070,1001,1001	5.2	1	17	dbSNP_134	30	0,8600		0,0,4300	no	missense,missense,missense,missense	GRB7	NM_001030002.2,NM_001242442.1,NM_001242443.1,NM_005310.3	29,29,29,29	0,1,6501	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	334/533,357/556,334/533,334/533	37901227	1,13003	2202	4300	6502	SO:0001583	missense			D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738	2886	2886		Pleckstrin homology (PH) domain containing, SH2 domain containing	4567	protein-coding gene	gene with protein product		601522			NA		Standard	NM_005310	NM_005310	NA	Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.1001G>A	17.37:g.37901227G>A	ENSP00000310771:p.Arg334His	NA	B2RAV1|B3KNL0|B3KWP9|B7WP75|Q53YD3|Q92568|Q96DF9|Q9Y220	37	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	G	35	5.459949	0.96240	2.27E-4	0.0	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	5.17	5.17	0.71159	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.048350	0.85682	D	0.000000	D	0.89061	0.6608	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.959;0.999	D	0.90993	0.4836	10	0.87932	D	0	-32.8545	18.4577	0.90727	0.0:0.0:1.0:0.0	.	334;334	Q14451-2;Q14451	.;GRB7_HUMAN	H	334;334;334;334;357;334	ENSP00000311752:R334H;ENSP00000310771:R334H;ENSP00000377761:R334H;ENSP00000377759:R334H;ENSP00000403459:R357H;ENSP00000377754:R334H	ENSP00000310771:R334H	R	+	2	0	GRB7	35154753	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.498000	0.97972	2.681000	0.91329	0.561000	0.74099	CGC	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257024.2		+	ENST00000309156.4	Missense_Mutation	SNP	17 : 37901227 - 37901227 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	179	34
EYS	346007	broad.mit.edu	37	6	66063417	66063417	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:66063417A>C	ENST00000393380.2	-	9	1930	c.1393T>G	c.(1393-1395)Ttc>Gtc	p.F465V	EYS_ENST00000503581.1_Missense_Mutation_p.F465V|EYS_ENST00000370618.3_Missense_Mutation_p.F465V|EYS_ENST00000370621.3_Missense_Mutation_p.F465V|EYS_ENST00000342421.5_Missense_Mutation_p.F465V|EYS_ENST00000370616.2_Missense_Mutation_p.F465V	NM_001142801.1	NP_001136273.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	465					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATACCATGGAAGGTGACTCCA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	107	111			NA	NA	6		NA											NA				66063417		2203	4300	6503	SO:0001583	missense				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107	346007	346007			21555	protein-coding gene	gene with protein product		612424	chromosome 6 open reading frame 180, EGF-like-domain, multiple 11, retinitis pigmentosa 25 (autosomal recessive), EGF-like-domain, multiple 10, chromosome 6 open reading frame 178, chromosome 6 open reading frame 179	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179	NA	18836446, 18976725	Standard	XM_294050	NM_001142800	NA	Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000393380.2:c.1393T>G	6.37:g.66063417A>C	ENSP00000377042:p.Phe465Val	NA	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	37	CCDS47446.1	.	.	.	.	.	.	.	.	.	.	a	5.754	0.323466	0.10900	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11;2.11	4.14	1.69	0.24217	.	.	.	.	.	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	B;B;B	0.11235	0.002;0.004;0.002	B;B;B	0.11329	0.006;0.004;0.005	T	0.47849	-0.9085	9	0.17369	T	0.5	.	3.4856	0.07618	0.6336:0.0:0.1204:0.2461	.	465;465;465	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	V	465	ENSP00000424243:F465V;ENSP00000359655:F465V;ENSP00000359650:F465V;ENSP00000377042:F465V;ENSP00000341818:F465V;ENSP00000359652:F465V	ENSP00000341818:F465V	F	-	1	0	EYS	66120138	0.011000	0.17503	0.001000	0.08648	0.009000	0.06853	1.014000	0.29950	0.063000	0.16370	-0.326000	0.08463	TTC	EYS-006	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041109.2		-	ENST00000393380.2	Missense_Mutation	SNP	6 : 66063417 - 66063417 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	437	70
VPS13B	157680	broad.mit.edu	37	8	100587894	100587894	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:100587894G>A	ENST00000358544.2	+	32	5144	c.5033G>A	c.(5032-5034)cGg>cAg	p.R1678Q	VPS13B_ENST00000357162.2_Missense_Mutation_p.R1653Q|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1678					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGCATACGGCGGCATCAAGAA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(161;2205 2542 7338 31318)							NA				0													76	77	77			NA	NA	8		NA											NA				100587894		2203	4300	6503	SO:0001583	missense			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549	157680	157680			2183	protein-coding gene	gene with protein product		607817	Cohen syndrome 1	CHS1, COH1	NA	7920642, 15498460	Standard	NM_184042	NM_181661	NA	Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.5033G>A	8.37:g.100587894G>A	ENSP00000351346:p.Arg1678Gln	NA	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	37	CCDS6280.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.9|25.9	4.684020|4.684020	0.88639|0.88639	.|.	.|.	ENSG00000132549|ENSG00000132549	ENST00000521559|ENST00000357162;ENST00000358544	.|T;T	.|0.69561	.|-0.41;-0.4	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.80088|0.80088	0.4559|0.4559	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.83275	.|0.996;0.992	T|T	0.74682|0.74682	-0.3583|-0.3583	5|10	.|0.24483	.|T	.|0.36	.|.	19.5096|19.5096	0.95135|0.95135	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1653;1678	.|Q7Z7G8-2;Q7Z7G8	.|.;VP13B_HUMAN	S|Q	41|1653;1678	.|ENSP00000349685:R1653Q;ENSP00000351346:R1678Q	.|ENSP00000349685:R1653Q	G|R	+|+	1|2	0|0	VPS13B|VPS13B	100657070|100657070	1.000000|1.000000	0.71417|0.71417	0.556000|0.556000	0.28293|0.28293	0.971000|0.971000	0.66376|0.66376	9.015000|9.015000	0.93640|0.93640	2.709000|2.709000	0.92574|0.92574	0.655000|0.655000	0.94253|0.94253	GGC|CGG	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277138.1		+	ENST00000358544.2	Missense_Mutation	SNP	8 : 100587894 - 100587894 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	307	54
LPP	4026	broad.mit.edu	37	3	188327248	188327248	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:188327248T>G	ENST00000312675.4	+	6	975	c.729T>G	c.(727-729)atT>atG	p.I243M	LPP_ENST00000448637.1_Missense_Mutation_p.I243M|LPP_ENST00000471917.1_3'UTR|LPP_ENST00000543006.1_Missense_Mutation_p.I243M	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	243	Pro-rich.				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)		CAGGACAAATTTATGGCTCAG	0.542		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													51	53	52			NA	NA	3		NA											NA				188327248		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.729T>G	3.37:g.188327248T>G	ENSP00000318089:p.Ile243Met	NA	A1L4L6|D3DNV6|Q8NFX5	37	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	T	6.607	0.480433	0.12581	.	.	ENSG00000145012	ENST00000448637;ENST00000312675;ENST00000543006;ENST00000415906	T;T;T;T	0.55052	1.96;0.54;0.54;1.55	5.53	-7.67	0.01272	.	1.058050	0.07175	N	0.853006	T	0.24509	0.0594	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.16571	-1.0398	10	0.32370	T	0.25	.	6.1723	0.20424	0.0646:0.2069:0.1644:0.5642	.	243;243	C9JUT4;Q93052	.;LPP_HUMAN	M	243;243;243;80	ENSP00000393602:I243M;ENSP00000318089:I243M;ENSP00000438891:I243M;ENSP00000393008:I80M	ENSP00000318089:I243M	I	+	3	3	LPP	189809942	0.000000	0.05858	0.003000	0.11579	0.708000	0.40852	-1.016000	0.03633	-1.366000	0.02155	-0.747000	0.03512	ATT	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344030.1		+	ENST00000312675.4	Missense_Mutation	SNP	3 : 188327248 - 188327248 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	370	77
CEP135	9662	broad.mit.edu	37	4	56846364	56846364	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56846364G>A	ENST00000257287.4	+	12	1653	c.1529G>A	c.(1528-1530)cGt>cAt	p.R510H		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	510					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GAACTTCAGCGTATGCTAGAA	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	1,4405		0,1,2202	81	84	83		1529	-1.2	0	4		83	0,8596		0,0,4298	no	missense	CEP135	NM_025009.3	29	0,1,6500	AA,AG,GG	NA	0.0,0.0227,0.0077	possibly-damaging	510/1141	56846364	1,13001	2203	4298	6501	SO:0001583	missense			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799	9662	9662			29086	protein-coding gene	gene with protein product		611423	KIAA0635, centrosomal protein 4	KIAA0635, CEP4	NA	9734811, 14654843	Standard	NM_025009	NM_025009	NA	Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.1529G>A	4.37:g.56846364G>A	ENSP00000257287:p.Arg510His	NA	B2RMY0|O75130|Q58F25|Q9H8H7	37	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	G	6.379	0.437961	0.12104	2.27E-4	0.0	ENSG00000174799	ENST00000257287	T	0.44881	0.91	5.87	-1.2	0.09554	.	0.926115	0.09460	N	0.799163	T	0.30386	0.0763	L	0.36672	1.1	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.26224	-1.0109	10	0.41790	T	0.15	.	8.4725	0.32993	0.5889:0.1833:0.2278:0.0	.	510	Q66GS9	CP135_HUMAN	H	510	ENSP00000257287:R510H	ENSP00000257287:R510H	R	+	2	0	CEP135	56541121	0.003000	0.15002	0.031000	0.17742	0.916000	0.54674	0.133000	0.15912	-0.254000	0.09500	-0.137000	0.14449	CGT	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362092.2		+	ENST00000257287.4	Missense_Mutation	SNP	4 : 56846364 - 56846364 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	390	72
NID1	4811	broad.mit.edu	37	1	236205427	236205427	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236205427C>A	ENST00000264187.6	-	4	1000	c.918G>T	c.(916-918)gaG>gaT	p.E306D	NID1_ENST00000366595.3_Missense_Mutation_p.E306D	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	306					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TGCCCACATCCTCCAGGCCCA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	132	138			NA	NA	1		NA											NA				236205427		2203	4300	6503	SO:0001583	missense			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962	4811	4811			7821	protein-coding gene	gene with protein product		131390	nidogen (enactin)	NID	NA	2471408, 7557988	Standard	NM_002508	NM_002508	NA	Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.918G>T	1.37:g.236205427C>A	ENSP00000264187:p.Glu306Asp	NA	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	37	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	C	1.974	-0.435723	0.04636	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	D;D	0.88277	-1.7;-2.36	5.81	0.73	0.18271	.	1.175610	0.05899	N	0.629702	T	0.80287	0.4595	N	0.25890	0.77	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.09377	0.004;0.002	T	0.61317	-0.7087	10	0.22109	T	0.4	.	5.3998	0.16288	0.0:0.507:0.1321:0.361	.	306;306	P14543-2;P14543	.;NID1_HUMAN	D	306	ENSP00000264187:E306D;ENSP00000355554:E306D	ENSP00000264187:E306D	E	-	3	2	NID1	234272050	0.002000	0.14202	0.028000	0.17463	0.143000	0.21401	-0.349000	0.07731	-0.103000	0.12175	0.563000	0.77884	GAG	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096647.2		-	ENST00000264187.6	Missense_Mutation	SNP	1 : 236205427 - 236205427 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	967	238
RBM4B	83759	broad.mit.edu	37	11	66436255	66436255	+	Missense_Mutation	SNP	C	C	T	rs149014922	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66436255C>T	ENST00000531969.1	-	3	485				RBM4B_ENST00000529195.2_5'UTR|RBM4B_ENST00000525754.1_Missense_Mutation_p.R307H|RBM4B_ENST00000310046.4_Missense_Mutation_p.R307H			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	NA					circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						TGCAGCACGACGCAGTGGGCT	0.567		NA											C	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	7e-04	SNP								NA				0													58	56	57			NA	NA	11		NA											NA				66436255		2200	4295	6495	SO:0001627	intron_variant			AK095158	CCDS8149.1, CCDS66144.1	11q13	2013-02-12	2006-01-25	2006-01-25			83759	83759		Zinc fingers, CCHC domain containing, RNA binding motif (RRM) containing	28842	protein-coding gene	gene with protein product			RNA binding motif protein 30	RBM30	NA	12477932	Standard	NM_031492	XR_247213	NA	Approved	MGC10871, ZCCHC15, RBM4L, ZCRB3B, ZCCHC21B	uc001ojb.3	Q9BQ04		ENST00000531969.1:c.413-3206G>A	11.37:g.66436255C>T		NA	B3KT83	37		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.82	3.704686	0.68615	.	.	ENSG00000173914	ENST00000525754;ENST00000310046	T;T	0.30981	1.51;1.51	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.37433	0.1003	M	0.69823	2.125	0.80722	D	1	B	0.27068	0.167	B	0.17098	0.017	T	0.07712	-1.0758	10	0.41790	T	0.15	.	19.6313	0.95704	0.0:1.0:0.0:0.0	.	307	Q9BQ04	RBM4B_HUMAN	H	307	ENSP00000433071:R307H;ENSP00000310471:R307H	ENSP00000310471:R307H	R	-	2	0	RBM4B	66192831	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	3.789000	0.55454	2.937000	0.99478	0.650000	0.86243	CGT	RBM4B-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000393853.1		-	ENST00000531969.1	Intron	SNP	11 : 66436255 - 66436255 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	60
DSCAM	1826	broad.mit.edu	37	21	41710129	41710129	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41710129A>C	ENST00000400454.1	-	8	2159	c.1682T>G	c.(1681-1683)cTt>cGt	p.L561R		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	561	Ig-like C2-type 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CACATCTGAAAGTTTAAGAGT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(134;970 1778 1785 21664 32388)							NA				0													166	156	159			NA	NA	21		NA											NA				41710129		1964	4157	6121	SO:0001583	missense			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587	1826	1826		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	3039	protein-coding gene	gene with protein product		602523			NA	9426258	Standard	NM_001389	NM_001271534	NA	Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1682T>G	21.37:g.41710129A>C	ENSP00000383303:p.Leu561Arg	NA	O60468	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.796638	0.70567	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.69806	-0.43;-0.43	5.77	5.77	0.91146	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.91090	3.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.88903	0.3354	10	0.87932	D	0	.	16.0742	0.80958	1.0:0.0:0.0:0.0	.	561	O60469	DSCAM_HUMAN	R	561;313	ENSP00000383303:L561R;ENSP00000385342:L313R	ENSP00000383303:L561R	L	-	2	0	DSCAM	40631999	1.000000	0.71417	0.999000	0.59377	0.631000	0.37964	9.133000	0.94460	2.198000	0.70561	0.533000	0.62120	CTT	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195029.1		-	ENST00000400454.1	Missense_Mutation	SNP	21 : 41710129 - 41710129 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	526	101
KIAA1715	80856	broad.mit.edu	37	2	176812408	176812408	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176812408C>T	ENST00000272748.4	-	9	753	c.506G>A	c.(505-507)cGa>cAa	p.R169Q	KIAA1715_ENST00000535310.1_Missense_Mutation_p.R94Q|KIAA1715_ENST00000544803.1_Missense_Mutation_p.R169Q	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	169						integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			AGCTGCAGTTCGCTGACGAAT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	102	106			NA	NA	2		NA											NA				176812408		2203	4300	6503	SO:0001583	missense			AB051502	CCDS33332.1	2q31	2014-06-27			ENSG00000144320	ENSG00000144320	80856	80856			21610	protein-coding gene	gene with protein product	lunapark, limb and neural patterns	610236			NA	11214970, 22729086	Standard	XM_042834	NM_030650	NA	Approved	ulnaless, Ul, LNP1, LNP	uc002ukc.1	Q9C0E8	OTTHUMG00000154112	ENST00000272748.4:c.506G>A	2.37:g.176812408C>T	ENSP00000272748:p.Arg169Gln	NA	Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	37	CCDS33332.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.729288	0.89390	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000409660;ENST00000544803;ENST00000535310	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.79787	0.4506	M	0.69463	2.115	0.80722	D	1	D;D;D;D	0.89917	1.0;0.974;1.0;0.995	D;B;D;P	0.91635	0.999;0.36;0.996;0.629	T	0.79631	-0.1723	9	0.87932	D	0	-8.9298	20.5407	0.99260	0.0:1.0:0.0:0.0	.	171;169;166;169	F5H2Y7;B7ZLA8;B7ZLA9;Q9C0E8	.;.;.;LNP_HUMAN	Q	169;171;46;169;94	.	ENSP00000272748:R169Q	R	-	2	0	KIAA1715	176520654	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.769000	0.74985	2.865000	0.98341	0.655000	0.94253	CGA	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333949.3		-	ENST00000272748.4	Missense_Mutation	SNP	2 : 176812408 - 176812408 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	381	29
GRWD1	83743	broad.mit.edu	37	19	48953707	48953707	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48953707C>T	ENST00000253237.5	+	4	839	c.606C>T	c.(604-606)gcC>gcT	p.A202A		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	202						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		ATGAGCAGGCCCAAATGAAGC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	73	72			NA	NA	19		NA											NA				48953707		2203	4300	6503	SO:0001819	synonymous_variant			AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447	83743	83743		WD repeat domain containing	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597			NA	15885502	Standard	NM_031485	NM_031485	NA	Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		ENST00000253237.5:c.606C>T	19.37:g.48953707C>T		NA	Q8TF59	37	CCDS12720.1																																																																																			GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466122.1		+	ENST00000253237.5	Silent	SNP	19 : 48953707 - 48953707 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	589	106
PLEKHG2	64857	broad.mit.edu	37	19	39908676	39908676	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39908676C>A	ENST00000409794.3	+	9	1864	c.1014C>A	c.(1012-1014)ttC>ttA	p.F338L	PLEKHG2_ENST00000378550.1_Missense_Mutation_p.F338L|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.F338L|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.F279L|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.F338L	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	338	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGCTGCTCTTCCTGTTCTCTC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	19	19			NA	NA	19		NA											NA				39908676		2203	4297	6500	SO:0001583	missense			AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924	64857	64857		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	29515	protein-coding gene	gene with protein product		611893			NA	11839748, 18045877	Standard	NM_022835	NM_022835	NA	Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.1014C>A	19.37:g.39908676C>A	ENSP00000386733:p.Phe338Leu	NA	B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	37	CCDS33022.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	21.1|21.1	4.098734|4.098734	0.76870|0.76870	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000378550;ENST00000458508;ENST00000409797|ENST00000205135	D;D;D;D;D|.	0.90844|.	-2.74;-2.74;-2.74;-2.74;-2.74|.	4.65|4.65	0.0907|0.0907	0.14464|0.14464	Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.48857|0.48857	0.1523|0.1523	L|L	0.37697|0.37697	1.125|1.125	0.41715|0.41715	D|D	0.989477|0.989477	P;D;P;P|.	0.69078|.	0.499;0.997;0.55;0.678|.	P;D;P;P|.	0.70716|.	0.708;0.97;0.613;0.519|.	T|T	0.30621|0.30621	-0.9972|-0.9972	10|5	0.87932|.	D|.	0|.	.|.	8.4114|8.4114	0.32646|0.32646	0.0:0.6421:0.0:0.3579|0.0:0.6421:0.0:0.3579	.|.	338;338;279;338|.	Q9H7P9-3;Q9H7P9;E7ESZ3;Q9H7P9-2|.	.;PKHG2_HUMAN;.;.|.	L|Y	338;338;338;279;338|235	ENSP00000386733:F338L;ENSP00000392906:F338L;ENSP00000367812:F338L;ENSP00000408857:F279L;ENSP00000386492:F338L|.	ENSP00000367812:F338L|.	F|S	+|+	3|2	2|0	PLEKHG2|PLEKHG2	44600516|44600516	0.998000|0.998000	0.40836|0.40836	0.875000|0.875000	0.34327|0.34327	0.859000|0.859000	0.49053|0.49053	1.089000|1.089000	0.30890|0.30890	-0.008000|-0.008000	0.14320|0.14320	-0.265000|-0.265000	0.10407|0.10407	TTC|TCC	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326802.1		+	ENST00000409794.3	Missense_Mutation	SNP	19 : 39908676 - 39908676 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	124	17
VKORC1	79001	broad.mit.edu	37	16	31104708	31104708	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31104708G>T	ENST00000319788.7	-	2	418	c.208C>A	c.(208-210)Ctg>Atg	p.L70M	VKORC1_ENST00000498155.1_Missense_Mutation_p.A102D|VKORC1_ENST00000354895.4_Intron|VKORC1_ENST00000394971.3_Missense_Mutation_p.A101D|VKORC1_ENST00000300851.6_Missense_Mutation_p.A90D|VKORC1_ENST00000394975.2_Missense_Mutation_p.L70M|RP11-196G11.1_ENST00000529564.1_Missense_Mutation_p.L70M			Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	70					peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	TCCTGTCCCAGCACATGCTCC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	100	113			NA	NA	16		NA											NA				31104708		2197	4300	6497	SO:0001583	missense				CCDS10703.1, CCDS10704.1	16p11.2	2008-02-05	2004-07-23		ENSG00000167397	ENSG00000167397	79001	79001			23663	protein-coding gene	gene with protein product		608547	vitamin K dependent clotting factors deficiency 2	VKCFD2	NA		Standard	NM_024006	NM_024006	NA	Approved		uc002eas.3	Q9BQB6	OTTHUMG00000047408	ENST00000319788.7:c.208C>A	16.37:g.31104708G>T	ENSP00000326135:p.Leu70Met	NA	B2R4Z6|Q6UX90|Q7Z2R4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.84|19.84	3.901624|3.901624	0.72754|0.72754	.|.	.|.	ENSG00000167397|ENSG00000167397;ENSG00000167397;ENSG00000255439	ENST00000300851;ENST00000394971;ENST00000498155|ENST00000319788;ENST00000394975;ENST00000529564	D|D;D;D	0.97303|0.98649	-4.33|-4.71;-5.05;-3.23	6.17|6.17	0.769|0.769	0.18492|0.18492	.|Vitamin K epoxide reductase (2);	.|0.000000	.|0.50627	.|D	.|0.000102	D|D	0.98707|0.98707	0.9566|0.9566	M|M	0.78456|0.78456	2.415|2.415	0.24446|0.24446	N|N	0.994508|0.994508	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	D|D	0.96014|0.96014	0.9004|0.9004	7|10	0.36615|0.62326	T|D	0.2|0.03	-2.9956|-2.9956	10.007|10.007	0.41964|0.41964	0.4261:0.0:0.5738:0.0|0.4261:0.0:0.5738:0.0	.|.	.|70;70	.|Q9BQB6-2;Q9BQB6	.|.;VKOR1_HUMAN	D|M	90;101;102|70	ENSP00000300851:A90D|ENSP00000326135:L70M;ENSP00000378426:L70M;ENSP00000431371:L70M	ENSP00000300851:A90D|ENSP00000431371:L70M	A|L	-|-	2|1	0|2	VKORC1|RP11-196G11.1;VKORC1	31012209|31012209	0.992000|0.992000	0.36948|0.36948	0.770000|0.770000	0.31555|0.31555	0.903000|0.903000	0.53119|0.53119	0.200000|0.200000	0.17257|0.17257	-0.055000|-0.055000	0.13244|0.13244	0.655000|0.655000	0.94253|0.94253	GCT|CTG	VKORC1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000108583.1		-	ENST00000319788.7	Missense_Mutation	SNP	16 : 31104708 - 31104708 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	423	82
MPV17L2	84769	broad.mit.edu	37	19	18305857	18305857	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18305857G>A	ENST00000599612.2	+	4	625	c.525G>A	c.(523-525)acG>acA	p.T175T		NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	175						integral to membrane				large_intestine(1)|lung(2)|urinary_tract(1)	4						ACGGCCTGACGCTGGGCTGGG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	110	110			NA	NA	19		NA											NA				18305857		2090	4220	6310	SO:0001819	synonymous_variant			AK094091	CCDS42522.1	19p13.11	2011-05-26			ENSG00000254858	ENSG00000254858	84769	84769			28177	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_032683	NM_032683	NA	Approved	FKSG24, MGC12972	uc002nid.3	Q567V2	OTTHUMG00000165628	ENST00000599612.2:c.525G>A	19.37:g.18305857G>A		NA	Q96P34|Q96QA0|Q9BSG4	37	CCDS42522.1																																																																																			MPV17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466294.2		+	ENST00000599612.2	Silent	SNP	19 : 18305857 - 18305857 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	599	120
AVPR1B	553	broad.mit.edu	37	1	206225109	206225109	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206225109C>T	ENST00000367126.4	+	1	1134	c.669C>T	c.(667-669)tgC>tgT	p.C223C		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	223					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GCCTCATCTGCCATGAGATCT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	53	52			NA	NA	1		NA											NA				206225109		2203	4299	6502	SO:0001819	synonymous_variant			D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049	553	553		GPCR / Class A : Vasopressin and oxytocin receptors	896	protein-coding gene	gene with protein product		600264		AVPR3	NA	7929452, 8586456	Standard	NM_000707	NM_000707	NA	Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.669C>T	1.37:g.206225109C>T		NA	B0M0J6|Q5TZ00	37	CCDS30994.1																																																																																			AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087996.1		+	ENST00000367126.4	Silent	SNP	1 : 206225109 - 206225109 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	597	108
KIAA1522	57648	broad.mit.edu	37	1	33236217	33236217	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33236217G>A	ENST00000294521.3	+	4	545				KIAA1522_ENST00000401073.2_Silent_p.R479R|KIAA1522_ENST00000373481.3_Silent_p.R431R|KIAA1522_ENST00000373480.1_Silent_p.R420R	NM_001198973.1	NP_001185902.1	Q9P206	K1522_HUMAN	KIAA1522	NA										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TCAGCATTCGGAGCAGTGGGC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	36	34			NA	NA	1		NA											NA				33236217		2065	4199	6264	SO:0001627	intron_variant			AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522	57648	57648			29301	protein-coding gene	gene with protein product					NA	10819331	Standard		NM_020888	NA	Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000294521.3:c.409+1841G>A	1.37:g.33236217G>A		NA	B5MDY0|Q8TCQ0	37	CCDS55589.1																																																																																			KIAA1522-005	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382044.1		+	ENST00000294521.3	Intron	SNP	1 : 33236217 - 33236217 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	149	14
RAB11FIP2	22841	broad.mit.edu	37	10	119799769	119799769	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:119799769G>A	ENST00000355624.3	-	2	1100	c.661C>T	c.(661-663)Cga>Tga	p.R221*	RAB11FIP2_ENST00000369199.3_Nonsense_Mutation_p.R221*|RP11-354M20.3_ENST00000417968.4_RNA|RP11-354M20.3_ENST00000451610.2_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	221					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		GACGAGAGTCGCTGAGGACCC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													182	184	183			NA	NA	10		NA											NA				119799769		2203	4299	6502	SO:0001587	stop_gained			AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560	22841	22841			29152	protein-coding gene	gene with protein product		608599			NA	11994279, 10231032	Standard	NM_014904	NM_014904	NA	Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.661C>T	10.37:g.119799769G>A	ENSP00000347839:p.Arg221*	NA	A6NEI4|Q9Y2F0	37	CCDS7602.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887967	0.91814	.	.	ENSG00000107560	ENST00000355624;ENST00000369199	.	.	.	5.5	2.44	0.29823	.	0.237237	0.39210	N	0.001431	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-12.2399	15.2537	0.73568	0.0:0.0:0.4982:0.5018	.	.	.	.	X	221	.	ENSP00000347839:R221X	R	-	1	2	RAB11FIP2	119789759	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.844000	0.48246	0.284000	0.22305	0.655000	0.94253	CGA	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050583.1		-	ENST00000355624.3	Nonsense_Mutation	SNP	10 : 119799769 - 119799769 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	624	155
LIFR	3977	broad.mit.edu	37	5	38484883	38484883	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38484883C>T	ENST00000263409.4	-	18	2747	c.2585G>A	c.(2584-2586)cGa>cAa	p.R862Q	LIFR_ENST00000453190.2_Missense_Mutation_p.R862Q	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	862					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TTACCATTCTCGTTTCCGATA	0.363		NA	T	PLAG1	salivary adenoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(13;4 730 6426 9861 34751)		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0													70	66	67			NA	NA	5		NA											NA				38484883		2203	4300	6503	SO:0001583	missense			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594	3977	3977		CD molecules, Fibronectin type III domain containing	6597	protein-coding gene	gene with protein product		151443	leukemia inhibitory factor receptor		NA	1915266	Standard	NM_002310	NM_001127671	NA	Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.2585G>A	5.37:g.38484883C>T	ENSP00000263409:p.Arg862Gln	NA	Q6LCD9	37	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384345	0.82792	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.58797	0.31;0.31	5.78	4.91	0.64330	.	0.110075	0.64402	D	0.000012	T	0.74390	0.3710	M	0.69823	2.125	0.42200	D	0.991767	D	0.89917	1.0	D	0.80764	0.994	T	0.75196	-0.3403	10	0.38643	T	0.18	-13.1154	16.2544	0.82505	0.1338:0.8662:0.0:0.0	.	862	P42702	LIFR_HUMAN	Q	862	ENSP00000263409:R862Q;ENSP00000398368:R862Q	ENSP00000263409:R862Q	R	-	2	0	LIFR	38520640	1.000000	0.71417	0.995000	0.50966	0.791000	0.44710	5.359000	0.66074	1.428000	0.47296	0.563000	0.77884	CGA	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253823.1		-	ENST00000263409.4	Missense_Mutation	SNP	5 : 38484883 - 38484883 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	138	19
ZNF264	9422	broad.mit.edu	37	19	57723439	57723439	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57723439G>A	ENST00000263095.6	+	4	1388	c.974G>A	c.(973-975)cGa>cAa	p.R325Q	ZNF264_ENST00000536056.1_Missense_Mutation_p.R325Q	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		CAAGTCTTTCGACATAGGCCA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	73	73			NA	NA	19		NA											NA				57723439		2203	4300	6503	SO:0001583	missense			AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844	NA	9422		Zinc fingers, C2H2-type, -	13057	protein-coding gene	gene with protein product		604668			NA	9455477	Standard		NM_003417	NA	Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.974G>A	19.37:g.57723439G>A	ENSP00000263095:p.Arg325Gln	NA	A8K8Y9|Q9P1V0	37	CCDS33127.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.761333	0.31228	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.18338	2.22;2.22	2.26	0.026	0.14148	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29093	0.0723	L	0.53729	1.69	0.22610	N	0.998931	D	0.89917	1.0	D	0.85130	0.997	T	0.12372	-1.0550	9	0.36615	T	0.2	.	4.9234	0.13882	0.4825:0.0:0.5175:0.0	.	325	O43296	ZN264_HUMAN	Q	325	ENSP00000263095:R325Q;ENSP00000440376:R325Q	ENSP00000263095:R325Q	R	+	2	0	ZNF264	62415251	0.000000	0.05858	0.100000	0.21137	0.674000	0.39518	0.312000	0.19397	0.084000	0.17077	-0.339000	0.08088	CGA	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465080.1		+	ENST00000263095.6	Missense_Mutation	SNP	19 : 57723439 - 57723439 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	336	61
FERMT1	55612	broad.mit.edu	37	20	6077578	6077578	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:6077578G>A	ENST00000217289.4	-	8	1848	c.1060C>T	c.(1060-1062)Cta>Tta	p.L354L	FERMT1_ENST00000536936.1_Silent_p.L97L	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	354	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CCACCTTCTAGGGTTACTTCC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	158	153			NA	NA	20		NA											NA				6077578		2203	4300	6503	SO:0001819	synonymous_variant			AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311	55612	55612		Fermitins, Pleckstrin homology (PH) domain containing	15889	protein-coding gene	gene with protein product	kindlin-1, kinderlin	607900	chromosome 20 open reading frame 42, fermitin family homolog 1 (Drosophila)	C20orf42	NA	12697302, 12789646	Standard	NM_017671	NM_017671	NA	Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.1060C>T	20.37:g.6077578G>A		NA	D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	37	CCDS13098.1																																																																																			FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077908.2		-	ENST00000217289.4	Silent	SNP	20 : 6077578 - 6077578 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1200	231
OR5D13	390142	broad.mit.edu	37	11	55541337	55541337	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55541337C>A	ENST00000361760.1	+	1	424	c.424C>A	c.(424-426)Ctc>Atc	p.L142I		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GTCTCAGAAGCTCTGTGCTCT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													216	216	216			NA	NA	11		NA											NA				55541337		2200	4296	6496	SO:0001583	missense			BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877	390142	390142		GPCR / Class A : Olfactory receptors	15280	protein-coding gene	gene with protein product					NA		Standard	NM_001001967	NM_001001967	NA	Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.424C>A	11.37:g.55541337C>A	ENSP00000354800:p.Leu142Ile	NA	Q6IF68|Q6IFC9	37	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.857061	0.32791	.	.	ENSG00000198877	ENST00000361760	T	0.00174	8.62	3.2	2.28	0.28536	GPCR, rhodopsin-like superfamily (1);	0.632696	0.12068	U	0.502545	T	0.00328	0.0010	M	0.63169	1.94	0.09310	N	1	B	0.31989	0.35	P	0.48524	0.58	T	0.22138	-1.0225	10	0.27082	T	0.32	-4.8549	9.2055	0.37287	0.0:0.8862:0.0:0.1138	.	142	Q8NGL4	OR5DD_HUMAN	I	142	ENSP00000354800:L142I	ENSP00000354800:L142I	L	+	1	0	OR5D13	55297913	0.000000	0.05858	0.003000	0.11579	0.035000	0.12851	-0.974000	0.03794	0.714000	0.32081	0.409000	0.27619	CTC	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391511.1		+	ENST00000361760.1	Missense_Mutation	SNP	11 : 55541337 - 55541337 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1109	187
CNOT2	4848	broad.mit.edu	37	12	70731292	70731292	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70731292C>A	ENST00000418359.3	+	10	1350	c.899C>A	c.(898-900)tCt>tAt	p.S300Y	CNOT2_ENST00000551483.1_5'UTR|CNOT2_ENST00000229195.3_Splice_Site_p.S300Y	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	300					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GACAGTAAATCTGTAAGTAAC	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	93	94			NA	NA	12		NA											NA				70731292		2203	4300	6503	SO:0001630	splice_region_variant			AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596	4848	4848			7878	protein-coding gene	gene with protein product		604909		NOT2	NA	10637334	Standard		NM_014515	NA	Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.900+1C>A	12.37:g.70731292C>A		NA	Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	37	CCDS31857.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.779111	0.70107	.	.	ENSG00000111596	ENST00000552231;ENST00000229195;ENST00000418359;ENST00000550160;ENST00000552915;ENST00000548159;ENST00000551043;ENST00000550155	T;T;T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	5.94	5.94	0.96194	.	0.094664	0.85682	D	0.000000	T	0.69620	0.3131	L	0.43152	1.355	0.80722	D	1	P;P	0.51351	0.944;0.898	P;B	0.44811	0.461;0.252	T	0.68522	-0.5386	10	0.39692	T	0.17	-7.0559	20.3501	0.98811	0.0:1.0:0.0:0.0	.	300;300	Q9NZN8-4;Q9NZN8	.;CNOT2_HUMAN	Y	300;300;300;163;239;291;300;110	ENSP00000450318:S300Y;ENSP00000229195:S300Y;ENSP00000412091:S300Y;ENSP00000448490:S163Y;ENSP00000447497:S239Y;ENSP00000449659:S291Y;ENSP00000449260:S300Y;ENSP00000448499:S110Y	ENSP00000229195:S300Y	S	+	2	0	CNOT2	69017559	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.790000	0.85794	2.807000	0.96579	0.650000	0.86243	TCT	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404260.1	Missense_Mutation	+	ENST00000418359.3	Splice_Site	SNP	12 : 70731292 - 70731292 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	384	38
TGM6	343641	broad.mit.edu	37	20	2398031	2398031	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2398031G>A	ENST00000202625.2	+	10	1551	c.1490G>A	c.(1489-1491)gGc>gAc	p.G497D	TGM6_ENST00000381423.1_Missense_Mutation_p.G497D	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	497					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	AGCATCGCTGGCAAGTTCAAG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	39	40			NA	NA	20		NA											NA				2398031		2203	4300	6503	SO:0001583	missense			AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948	343641	343641		Transglutaminases	16255	protein-coding gene	gene with protein product	spinocerebellar ataxia 35	613900	transglutaminase 3-like	TGM3L	NA	11390390, 21106500	Standard	NM_198994	NM_198994	NA	Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1490G>A	20.37:g.2398031G>A	ENSP00000202625:p.Gly497Asp	NA	Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	37	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195447	0.58126	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	T;T	0.68624	-0.34;-0.34	4.67	4.67	0.58626	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.062472	0.64402	D	0.000004	T	0.80813	0.4695	M	0.79258	2.445	0.42971	D	0.994436	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.83263	-0.0047	10	0.72032	D	0.01	-38.5886	12.9459	0.58371	0.0:0.0:1.0:0.0	.	497;497	O95932-2;O95932	.;TGM3L_HUMAN	D	497	ENSP00000202625:G497D;ENSP00000370831:G497D	ENSP00000202625:G497D	G	+	2	0	TGM6	2346031	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	5.429000	0.66495	2.437000	0.82529	0.655000	0.94253	GGC	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077581.2		+	ENST00000202625.2	Missense_Mutation	SNP	20 : 2398031 - 2398031 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	215	51
CD2AP	23607	broad.mit.edu	37	6	47471177	47471177	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:47471177G>A	ENST00000359314.5	+	2	621		c.e2+1			NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	NA					cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			TTTCGTTAAGGTAAGTATTTT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	93	93			NA	NA	6		NA											NA				47471177		2203	4300	6503	SO:0001630	splice_region_variant			AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087	23607	23607			14258	protein-coding gene	gene with protein product		604241			NA	10339567	Standard		NM_012120	NA	Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.165+1G>A	6.37:g.47471177G>A		NA	A6NL34|Q5VYA3|Q9UG97	37	CCDS34472.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389631	0.82902	.	.	ENSG00000198087	ENST00000359314	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9996	0.89195	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD2AP	47579136	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.452000	0.90346	2.245000	0.73994	0.591000	0.81541	.	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040817.2	Intron	+	ENST00000359314.5	Splice_Site	SNP	6 : 47471177 - 47471177 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	284	10
RYR3	6263	broad.mit.edu	37	15	33954869	33954869	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33954869C>A	ENST00000389232.4	+	35	5208	c.5138C>A	c.(5137-5139)cCt>cAt	p.P1713H	RYR3_ENST00000415757.3_Missense_Mutation_p.P1713H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1713	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATCCGAGACCCTGTAGGGGGG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	80	78			NA	NA	15		NA											NA				33954869		2081	4238	6319	SO:0001583	missense				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838	6263	6263		Ion channels / Ryanodine receptors, EF-hand domain containing	10485	protein-coding gene	gene with protein product		180903			NA	8276408	Standard		NM_001036	NA	Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5138C>A	15.37:g.33954869C>A	ENSP00000373884:p.Pro1713His	NA	O15175|Q15412	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351827	0.82132	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.74737	-0.87;-0.87	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.87493	0.6191	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.968;0.999	D	0.88336	0.2971	10	0.87932	D	0	.	19.3887	0.94570	0.0:1.0:0.0:0.0	.	1713;1713	Q15413-2;Q15413	.;RYR3_HUMAN	H	1713	ENSP00000373884:P1713H;ENSP00000399610:P1713H	ENSP00000354735:P1713H	P	+	2	0	RYR3	31742161	1.000000	0.71417	0.970000	0.41538	0.818000	0.46254	7.411000	0.80078	2.826000	0.97356	0.655000	0.94253	CCT	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417514.1		+	ENST00000389232.4	Missense_Mutation	SNP	15 : 33954869 - 33954869 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	399	84
MAST1	22983	broad.mit.edu	37	19	12958425	12958425	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12958425G>T	ENST00000251472.4	+	6	527		c.e6-1		MAST1_ENST00000591495.1_Splice_Site	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	NA					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCTCCCCGCAGCCCCGGGCGC	0.617		NA									OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	43	42			NA	NA	19		NA											NA				12958425		2203	4300	6503	SO:0001630	splice_region_variant			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613	22983	22983			19034	protein-coding gene	gene with protein product		612256			NA		Standard	NM_014975	NM_014975	NA	Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.489-1G>T	19.37:g.12958425G>T		683	O00114|Q8N6X0	37	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329179	0.81690	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	.	.	.	4.66	3.6	0.41247	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.227	0.54465	0.0:0.0:0.8282:0.1718	.	.	.	.	.	-1	.	.	.	+	.	.	MAST1	12819425	1.000000	0.71417	0.979000	0.43373	0.827000	0.46813	9.693000	0.98684	1.083000	0.41159	0.491000	0.48974	.	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451733.2	Intron	+	ENST00000251472.4	Splice_Site	SNP	19 : 12958425 - 12958425 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	44
PREP	5550	broad.mit.edu	37	6	105726037	105726037	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:105726037G>A	ENST00000369110.3	-	15	2307	c.2115C>T	c.(2113-2115)aaC>aaT	p.N705N		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	705					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	TCCAGTCGACGTTCAGGCACC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													188	180	183			NA	NA	6		NA											NA				105726037		2203	4300	6503	SO:0001819	synonymous_variant				CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	5550	5550	3.4.21.26		9358	protein-coding gene	gene with protein product		600400			NA	7959018	Standard		NM_002726	NA	Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.2115C>T	6.37:g.105726037G>A		NA	Q8N6D4	37	CCDS5053.1																																																																																			PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041658.1		-	ENST00000369110.3	Silent	SNP	6 : 105726037 - 105726037 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1233	237
BNIP2	663	broad.mit.edu	37	15	59964895	59964895	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59964895G>A	ENST00000267859.3	-	6	972	c.879C>T	c.(877-879)gtC>gtT	p.V293V	BNIP2_ENST00000415213.2_Silent_p.V234V|BNIP2_ENST00000607373.1_Silent_p.V172V			Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 2	172	CRAL-TRIO.				anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation	nuclear envelope|perinuclear region of cytoplasm	calcium ion binding|GTPase activator activity|protein binding			NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						GCATGAAACAGACAGCAAACA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(174;1936 1978 6671 8240 38212)							NA				0													101	101	101			NA	NA	15		NA											NA				59964895		2190	4290	6480	SO:0001819	synonymous_variant			U15173	CCDS10174.2	15q21.3	2008-07-18	2002-08-29		ENSG00000140299	ENSG00000140299	663	663			1083	protein-coding gene	gene with protein product		603292	BCL2/adenovirus E1B 19kD-interacting protein 2		NA	7954800	Standard	NM_004330	NM_004330	NA	Approved	Nip2, BNIP-2	uc010uhc.2	Q12982	OTTHUMG00000132727	ENST00000267859.3:c.879C>T	15.37:g.59964895G>A		NA	B4DS94	37	CCDS10174.2																																																																																			BNIP2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256069.3		-	ENST00000267859.3	Silent	SNP	15 : 59964895 - 59964895 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	46
SLC52A2	79581	broad.mit.edu	37	8	145584110	145584110	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145584110G>A	ENST00000526752.1	+	2	241				SLC52A2_ENST00000527078.1_Missense_Mutation_p.A320T|SLC52A2_ENST00000532887.1_Missense_Mutation_p.A320T|SLC52A2_ENST00000540505.1_Missense_Mutation_p.A232T|SLC52A2_ENST00000329994.2_Missense_Mutation_p.A320T|SLC52A2_ENST00000530047.1_Missense_Mutation_p.A320T|SLC52A2_ENST00000402965.1_Missense_Mutation_p.A320T			Q9HAB3	RFT3_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	NA						integral to plasma membrane	receptor activity|riboflavin transporter activity				NA						GGGCAGTGCTGCCAATCCCCT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	73	74			NA	NA	8		NA											NA				145584110		2200	4293	6493	SO:0001627	intron_variant			AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803	79581	79581		Solute carriers	30224	protein-coding gene	gene with protein product		607882	G protein-coupled receptor 172A	GPR172A	NA	12740431	Standard	NM_024531	NM_024531	NA	Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000526752.1:c.131-353G>A	8.37:g.145584110G>A		NA	A8K6B6|D3DWL8|Q86UT1	37		.	.	.	.	.	.	.	.	.	.	G	21.8	4.202481	0.79127	.	.	ENSG00000185803	ENST00000530047;ENST00000527078;ENST00000526338;ENST00000402965;ENST00000532887;ENST00000329994;ENST00000540505	T;T;T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01	4.69	3.77	0.43336	.	0.000000	0.85682	D	0.000000	T	0.79924	0.4530	M	0.77103	2.36	0.80722	D	1	B	0.30193	0.272	B	0.38842	0.283	T	0.81226	-0.1029	10	0.52906	T	0.07	.	11.9871	0.53153	0.0:0.0:0.827:0.173	.	320	Q9HAB3	RFT3_HUMAN	T	320;320;156;320;320;320;232	ENSP00000435820:A320T;ENSP00000434728:A320T;ENSP00000433583:A156T;ENSP00000385961:A320T;ENSP00000436768:A320T;ENSP00000333638:A320T;ENSP00000440400:A232T	ENSP00000333638:A320T	A	+	1	0	GPR172A	145554918	1.000000	0.71417	0.920000	0.36463	0.992000	0.81027	5.483000	0.66838	2.152000	0.67230	0.462000	0.41574	GCC	SLC52A2-012	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000382410.1		+	ENST00000526752.1	Intron	SNP	8 : 145584110 - 145584110 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	646	126
MTMR6	9107	broad.mit.edu	37	13	25831394	25831394	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25831394C>A	ENST00000381801.5	-	9	1796	c.1035G>T	c.(1033-1035)caG>caT	p.Q345H	MTMR6_ENST00000540661.1_Missense_Mutation_p.Q345H	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	345	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		GGGAACAAACCTGGGAAGTCC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	96	100			NA	NA	13		NA											NA				25831394		2203	4300	6503	SO:0001583	missense			AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505	9107	9107		Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins	7453	protein-coding gene	gene with protein product		603561			NA	9736772	Standard	NM_004685	NM_004685	NA	Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.1035G>T	13.37:g.25831394C>A	ENSP00000371221:p.Gln345His	NA	B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	37	CCDS9313.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550865	0.65311	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801	D;D	0.91577	-2.87;-2.87	5.49	0.0117	0.14088	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.96571	0.8881	H	0.98980	4.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94571	0.7771	10	0.87932	D	0	.	8.9037	0.35510	0.0:0.248:0.0:0.752	.	345;345	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	H	345	ENSP00000443161:Q345H;ENSP00000371221:Q345H	ENSP00000371221:Q345H	Q	-	3	2	MTMR6	24729394	1.000000	0.71417	0.988000	0.46212	0.982000	0.71751	0.789000	0.26886	0.035000	0.15519	-0.145000	0.13849	CAG	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044225.1		-	ENST00000381801.5	Missense_Mutation	SNP	13 : 25831394 - 25831394 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	213	44
EHD3	30845	broad.mit.edu	37	2	31484505	31484505	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31484505G>A	ENST00000322054.5	+	5	1291	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	336					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CAACAACCTGGCCGAGATCTA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	131	134			NA	NA	2		NA											NA				31484505		2203	4300	6503	SO:0001583	missense			AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016	30845	30845		EF-hand domain containing	3244	protein-coding gene	gene with protein product		605891		PAST3	NA	10673336	Standard	NM_014600	NM_014600	NA	Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.1006G>A	2.37:g.31484505G>A	ENSP00000327116:p.Ala336Thr	NA	D6W574|Q8N514|Q9NZB3	37	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784436	0.31593	.	.	ENSG00000013016	ENST00000322054	T	0.17213	2.29	6.04	6.04	0.98038	.	0.090843	0.85682	D	0.000000	T	0.09423	0.0232	N	0.05230	-0.09	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33033	-0.9884	10	0.22109	T	0.4	-6.2235	14.6935	0.69103	0.0687:0.0:0.9313:0.0	.	336	Q9NZN3	EHD3_HUMAN	T	336	ENSP00000327116:A336T	ENSP00000327116:A336T	A	+	1	0	EHD3	31338009	1.000000	0.71417	0.973000	0.42090	0.105000	0.19272	6.685000	0.74543	2.873000	0.98535	0.561000	0.74099	GCC	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216810.1		+	ENST00000322054.5	Missense_Mutation	SNP	2 : 31484505 - 31484505 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	718	168
TRIM68	55128	broad.mit.edu	37	11	4626710	4626710	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4626710C>A	ENST00000300747.5	-	2	314	c.25G>T	c.(25-27)Gcc>Tcc	p.A9S		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	9					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TCCACAATGGCTTCCACCAAG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	76	80			NA	NA	11		NA											NA				4626710		2201	4298	6499	SO:0001583	missense			AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333	55128	55128		RING-type (C3HC4) zinc fingers, Tripartite motif containing / Tripartite motif containing	21161	protein-coding gene	gene with protein product		613184	ring finger protein 137, tripartite motif-containing 68	RNF137	NA	11597395	Standard	NM_018073	NM_018073	NA	Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.25G>T	11.37:g.4626710C>A	ENSP00000300747:p.Ala9Ser	NA	A6NI19|A8K551|B3KPM5|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	37	CCDS31356.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.256711	0.39896	.	.	ENSG00000167333	ENST00000300747;ENST00000533021	D;D	0.84223	-1.82;-1.82	4.41	3.4	0.38934	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.43416	D	0.000562	T	0.74824	0.3767	N	0.04655	-0.195	0.30812	N	0.738715	D;B	0.69078	0.997;0.192	P;B	0.55785	0.784;0.1	T	0.69873	-0.5027	10	0.16896	T	0.51	.	9.5446	0.39273	0.0:0.7847:0.2153:0.0	.	9;9	E9PR29;Q6AZZ1	.;TRI68_HUMAN	S	9	ENSP00000300747:A9S;ENSP00000436112:A9S	ENSP00000300747:A9S	A	-	1	0	TRIM68	4583286	0.002000	0.14202	0.995000	0.50966	0.957000	0.61999	0.808000	0.27154	2.387000	0.81309	0.549000	0.68633	GCC	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385948.1		-	ENST00000300747.5	Missense_Mutation	SNP	11 : 4626710 - 4626710 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	446	68
CTNNAL1	8727	broad.mit.edu	37	9	111706086	111706086	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111706086T>C	ENST00000374595.4	-	17	2031	c.1952A>G	c.(1951-1953)gAt>gGt	p.D651G	CTNNAL1_ENST00000325580.6_Missense_Mutation_p.D567G|FAM206A_ENST00000374624.3_Intron|CTNNAL1_ENST00000374594.1_Missense_Mutation_p.D52G|CTNNAL1_ENST00000325551.4_Missense_Mutation_p.D651G			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	651					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		AAGCTTGTCATCGTCTTTCAG	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	132	132			NA	NA	9		NA											NA				111706086		2203	4300	6503	SO:0001583	missense			AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326	8727	8727			2512	protein-coding gene	gene with protein product	alpha-catulin, alpha2-catulin	604785			NA	9806841	Standard	NM_003798	XM_005252291	NA	Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000374595.4:c.1952A>G	9.37:g.111706086T>C	ENSP00000363723:p.Asp651Gly	NA	B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	37		.	.	.	.	.	.	.	.	.	.	T	14.68	2.608757	0.46527	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580;ENST00000374594	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.54	5.54	0.83059	.	0.144107	0.64402	D	0.000007	T	0.65995	0.2745	M	0.64997	1.995	0.26154	N	0.980095	D;D;B;D	0.89917	1.0;0.961;0.002;0.961	D;P;B;P	0.87578	0.998;0.721;0.009;0.721	T	0.58808	-0.7571	10	0.11485	T	0.65	-21.7967	13.6804	0.62481	0.0:0.0:0.0:1.0	.	567;651;651;651	Q9UBT7-3;B3KMX6;Q9UBT7-2;Q9UBT7	.;.;.;CTNL1_HUMAN	G	651;651;567;52	ENSP00000363723:D651G;ENSP00000320434:D651G;ENSP00000323351:D567G;ENSP00000363722:D52G	ENSP00000320434:D651G	D	-	2	0	CTNNAL1	110745907	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.792000	0.69052	2.326000	0.78906	0.533000	0.62120	GAT	CTNNAL1-002	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000053578.1		-	ENST00000374595.4	Missense_Mutation	SNP	9 : 111706086 - 111706086 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	411	60
DNHD1	144132	broad.mit.edu	37	11	6587919	6587919	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6587919A>G	ENST00000527990.2	+	33	11309	c.11309A>G	c.(11308-11310)tAt>tGt	p.Y3770C	DNHD1_ENST00000254579.6_Missense_Mutation_p.Y3770C			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3770					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGCAGAGAGTATCCTGAACTC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	87	86			NA	NA	11		NA											NA				6587919		2028	4186	6214	SO:0001583	missense			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532	144132	144132			26532	protein-coding gene	gene with protein product			chromosome 11 open reading frame 47, dynein heavy chain domain 1-like, coiled-coil domain containing 35	DHCD1, C11orf47, DNHD1L, CCDC35	NA	12975309	Standard	NM_144666	NM_173589	NA	Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.11309A>G	11.37:g.6587919A>G	ENSP00000436180:p.Tyr3770Cys	NA	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	A	9.228	1.035064	0.19590	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000525883;ENST00000530197	T;T	0.25749	1.78;1.78	4.52	1.55	0.23275	.	1.253460	0.05804	N	0.612835	T	0.12561	0.0305	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.29212	-1.0019	10	0.87932	D	0	3.8543	5.9195	0.19073	0.1776:0.1562:0.6662:0.0	.	2858;38;3770	B0I1S4;D3DQT9;Q96M86	.;.;DNHD1_HUMAN	C	3770;3770;38;38	ENSP00000254579:Y3770C;ENSP00000436180:Y3770C	ENSP00000254579:Y3770C	Y	+	2	0	DNHD1	6544495	0.009000	0.17119	0.015000	0.15790	0.045000	0.14185	0.726000	0.25984	0.234000	0.21139	-0.146000	0.13790	TAT	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384673.2		+	ENST00000527990.2	Missense_Mutation	SNP	11 : 6587919 - 6587919 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	98	15
LRFN5	145581	broad.mit.edu	37	14	42356731	42356731	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:42356731A>G	ENST00000554171.1	+	5	3335	c.903A>G	c.(901-903)ggA>ggG	p.G301G	LRFN5_ENST00000298119.4_Silent_p.G301G|LRFN5_ENST00000554120.1_Silent_p.G301G			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	301	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TCCTGGAGGGACAAAGGGCAA	0.468		NA								HNSCC(30;0.082)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	106	107			NA	NA	14		NA											NA				42356731		2203	4300	6503	SO:0001819	synonymous_variant			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379	145581	145581		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	20360	protein-coding gene	gene with protein product	fibronectin type III, immunoglobulin and leucine rich repeat domains 8	612811	chromosome 14 open reading frame 146	C14orf146	NA	16828986	Standard	NM_152447	NM_152447	NA	Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000554171.1:c.903A>G	14.37:g.42356731A>G		NA	B3KU78|Q86XL2	37																																																																																				LRFN5-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000410001.1		+	ENST00000554171.1	Silent	SNP	14 : 42356731 - 42356731 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	542	108
AGL	178	broad.mit.edu	37	1	100356893	100356893	+	Missense_Mutation	SNP	G	G	A	rs147977213	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100356893G>A	ENST00000294724.4	+	22	3408	c.2930G>A	c.(2929-2931)cGa>cAa	p.R977Q	AGL_ENST00000370165.3_Missense_Mutation_p.R977Q|AGL_ENST00000361522.4_Missense_Mutation_p.R960Q|AGL_ENST00000361302.3_Missense_Mutation_p.R961Q|AGL_ENST00000370161.2_Missense_Mutation_p.R961Q|AGL_ENST00000370163.3_Missense_Mutation_p.R977Q|AGL_ENST00000361915.3_Missense_Mutation_p.R977Q	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	977					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CTTATTTCACGATCAGGAACT	0.323		NA											G	2	9e-04	NA	NA	2184	0.0035	1	,	,	NA	2e-04	NA	NA	NA	9e-04	1	LOWCOV,EXOME	NA	NA	8e-04	SNP								NA				0													105	108	107			NA	NA	1		NA											NA				100356893		2203	4300	6503	SO:0001583	missense			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	178	178	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	glycogen debranching enzyme, glycogen storage disease type III	610860	amylo-1, 6-glucosidase, 4-alpha-glucanotransferase		NA	1505983	Standard	NM_000028	NM_000028	NA	Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.2930G>A	1.37:g.100356893G>A	ENSP00000294724:p.Arg977Gln	NA	A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	37	CCDS759.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	18.44	3.624360	0.66901	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.55369	0.1916	L	0.38838	1.175	0.80722	D	1	P;P;P	0.42649	0.786;0.786;0.681	B;B;B	0.39660	0.306;0.306;0.161	T	0.57505	-0.7800	10	0.13853	T	0.58	.	19.852	0.96744	0.0:0.0:1.0:0.0	.	960;961;977	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	Q	977;977;977;977;961;961;960	ENSP00000355106:R977Q;ENSP00000359184:R977Q;ENSP00000359182:R977Q;ENSP00000294724:R977Q;ENSP00000354971:R961Q;ENSP00000359180:R961Q;ENSP00000354635:R960Q	ENSP00000294724:R977Q	R	+	2	0	AGL	100129481	1.000000	0.71417	0.995000	0.50966	0.949000	0.60115	3.025000	0.49681	2.703000	0.92315	0.579000	0.79373	CGA	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029778.1		+	ENST00000294724.4	Missense_Mutation	SNP	1 : 100356893 - 100356893 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	96
HIP1	3092	broad.mit.edu	37	7	75182880	75182880	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75182880C>T	ENST00000434438.2	-	22	2187	c.2167G>A	c.(2167-2169)Gag>Aag	p.E723K	HIP1_ENST00000336926.6_Missense_Mutation_p.E723K	NM_001243198.1	NP_001230127.1	O00291	HIP1_HUMAN	huntingtin interacting protein 1	723					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TTACAGGCCTCGGTCAGTGCT	0.562		NA	T	PDGFRB	CMML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	0													68	57	60			NA	NA	7		NA											NA				75182880		2203	4300	6503	SO:0001583	missense			AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946	3092	3092			4913	protein-coding gene	gene with protein product		601767			NA	9140394, 9147654	Standard	NM_005338	NM_005338	NA	Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000434438.2:c.2167G>A	7.37:g.75182880C>T	ENSP00000410300:p.Glu723Lys	NA	O00328|Q2TB58|Q8TDL4	37	CCDS59060.1	.	.	.	.	.	.	.	.	.	.	c	13.96	2.392104	0.42410	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.14640	2.72;2.49	5.17	4.3	0.51218	.	0.349867	0.36374	N	0.002631	T	0.13243	0.0321	L	0.51422	1.61	0.80722	D	1	B;B	0.15141	0.012;0.004	B;B	0.09377	0.004;0.004	T	0.05053	-1.0909	10	0.30078	T	0.28	-15.5609	10.8155	0.46573	0.0:0.9123:0.0:0.0877	.	723;723	E7ES17;O00291	.;HIP1_HUMAN	K	723	ENSP00000336747:E723K;ENSP00000410300:E723K	ENSP00000336747:E723K	E	-	1	0	HIP1	75020816	0.999000	0.42202	0.873000	0.34254	0.553000	0.35397	5.389000	0.66255	1.419000	0.47118	0.650000	0.86243	GAG	HIP1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342864.2		-	ENST00000434438.2	Missense_Mutation	SNP	7 : 75182880 - 75182880 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	287	48
NPHP4	261734	broad.mit.edu	37	1	5924003	5924003	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:5924003G>T	ENST00000378156.4	-	29	4352	c.4087C>A	c.(4087-4089)Cac>Aac	p.H1363N	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1363					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CTGTGCAGGTGGAATGTCCTC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	96	92			NA	NA	1		NA											NA				5924003		2003	4167	6170	SO:0001583	missense			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697	261734	261734			19104	protein-coding gene	gene with protein product	nephroretinin, nephrocystin-4, POC10 centriolar protein homolog (Chlamydomonas)	607215			NA	11920287, 12205563	Standard		XR_244787	NA	Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.4087C>A	1.37:g.5924003G>T	ENSP00000367398:p.His1363Asn	NA		37	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	G	5.643	0.303324	0.10678	.	.	ENSG00000131697	ENST00000378156	D	0.86865	-2.18	5.3	2.39	0.29439	.	0.749504	0.12359	N	0.475857	T	0.79076	0.4385	L	0.45581	1.43	0.09310	N	1	B	0.14438	0.01	B	0.15052	0.012	T	0.62034	-0.6939	10	0.23891	T	0.37	.	3.0777	0.06252	0.3113:0.0:0.5017:0.187	.	1363	O75161	NPHP4_HUMAN	N	1363	ENSP00000367398:H1363N	ENSP00000367398:H1363N	H	-	1	0	NPHP4	5846590	1.000000	0.71417	0.013000	0.15412	0.386000	0.30323	2.329000	0.43876	0.607000	0.29982	-0.119000	0.15052	CAC	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000001715.2		-	ENST00000378156.4	Missense_Mutation	SNP	1 : 5924003 - 5924003 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	181	26
NUTM1	256646	broad.mit.edu	37	15	34649395	34649395	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34649395G>A	ENST00000537011.1	+	8	3568	c.3186G>A	c.(3184-3186)gaG>gaA	p.E1062E	NUTM1_ENST00000438749.3_Silent_p.E1052E|NUTM1_ENST00000333756.4_Silent_p.E1034E	NM_001284292.1	NP_001271221.1			NUT midline carcinoma, family member 1	NA											NA						CACCAAGGGAGCATCCCCTCA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	68	73			NA	NA	15		NA											NA				34649395		2201	4298	6499	SO:0001819	synonymous_variant			AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507	256646	256646			29919	protein-coding gene	gene with protein product	nuclear protein in testis	608963	chromosome 15 open reading frame 55	C15orf55	NA	12543779	Standard	NM_175741	NM_175741	NA	Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000537011.1:c.3186G>A	15.37:g.34649395G>A		NA		37																																																																																				NUTM1-001	PUTATIVE	downstream_ATG|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000418024.1		+	ENST00000537011.1	Silent	SNP	15 : 34649395 - 34649395 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	352	32
UBE2D1	7321	broad.mit.edu	37	10	60121147	60121147	+	Missense_Mutation	SNP	C	C	A	rs141191537		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:60121147C>A	ENST00000373910.4	+	2	301	c.74C>A	c.(73-75)cCt>cAt	p.P25H		NM_001204880.1|NM_003338.4	NP_001191809.1|NP_003329.1	P51668	UB2D1_HUMAN	ubiquitin-conjugating enzyme E2D 1	25					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|BMP signaling pathway|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K48-linked ubiquitination|transforming growth factor beta receptor signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2)	10						TCAGCTGGACCTGTGGGAGAT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	147	150			NA	NA	10		NA											NA				60121147		2203	4300	6503	SO:0001583	missense			BC015997	CCDS7252.1, CCDS73139.1	10q21.1	2011-05-19	2011-05-19		ENSG00000072401	ENSG00000072401	7321	7321		Ubiquitin-conjugating enzymes E2	12474	protein-coding gene	gene with protein product		602961	stimulator of Fe transport, ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast)	SFT	NA	10072594, 8530467	Standard	NM_003338	NM_003338	NA	Approved	UbcH5A, UBCH5, UBC4/5, E2(17)KB1	uc001jke.2	P51668	OTTHUMG00000018269	ENST00000373910.4:c.74C>A	10.37:g.60121147C>A	ENSP00000363019:p.Pro25His	NA	A6NLF6|A8K786	37	CCDS7252.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904294	0.92035	.	.	ENSG00000072401	ENST00000373910	T	0.60171	0.21	6.07	6.07	0.98685	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.84714	0.5533	H	0.96748	3.875	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.88960	0.3393	10	0.87932	D	0	.	18.1532	0.89682	0.0:1.0:0.0:0.0	.	25	P51668	UB2D1_HUMAN	H	25	ENSP00000363019:P25H	ENSP00000363019:P25H	P	+	2	0	UBE2D1	59791153	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.735000	0.84939	2.885000	0.99019	0.655000	0.94253	CCT	UBE2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048143.2		+	ENST00000373910.4	Missense_Mutation	SNP	10 : 60121147 - 60121147 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	538	87
NBPF3	84224	broad.mit.edu	37	1	21797189	21797189	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21797189G>A	ENST00000318220.6	+	7	1288	c.240G>A	c.(238-240)gaG>gaA	p.E80E	NBPF3_ENST00000454000.2_Silent_p.E66E|NBPF3_ENST00000342104.5_Silent_p.E136E|NBPF3_ENST00000318249.5_Silent_p.E136E			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	136						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCACAGAAGAGAAGCTTGCAG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	51	49			NA	NA	1		NA											NA				21797189		2203	4300	6503	SO:0001819	synonymous_variant			BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794	84224	84224		neuroblastoma breakpoint family	25076	protein-coding gene	gene with protein product		612992			NA	11230166, 16079250	Standard	NM_032264	NM_032264	NA	Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318220.6:c.240G>A	1.37:g.21797189G>A		NA	A8K965|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	37																																																																																				NBPF3-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000008190.2		+	ENST00000318220.6	Silent	SNP	1 : 21797189 - 21797189 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	498	43
AKR7A2	8574	broad.mit.edu	37	1	19633502	19633502	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19633502C>A	ENST00000235835.3	-	5	803	c.782G>T	c.(781-783)aGg>aTg	p.R261M		NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	261					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCACCGATTCCTGTAGGTCTC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	91	88			NA	NA	1		NA											NA				19633502		2203	4300	6503	SO:0001583	missense			AF026947	CCDS194.1	1p36.13	2010-09-30			ENSG00000053371	ENSG00000053371	8574	8574		Aldo-keto reductases	389	protein-coding gene	gene with protein product		603418			NA	9576847	Standard	NM_003689	NM_003689	NA	Approved	AFAR	uc001bbw.3	O43488	OTTHUMG00000002522	ENST00000235835.3:c.782G>T	1.37:g.19633502C>A	ENSP00000235835:p.Arg261Met	NA	O75749|Q5TG63	37	CCDS194.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.275329	0.59649	.	.	ENSG00000053371	ENST00000235835;ENST00000330072	T;T	0.04234	3.67;3.67	5.17	4.2	0.49525	NADP-dependent oxidoreductase domain (3);	0.048149	0.85682	D	0.000000	T	0.11537	0.0281	M	0.74881	2.28	0.46678	D	0.999159	B	0.28128	0.201	B	0.37387	0.248	T	0.02320	-1.1177	10	0.62326	D	0.03	.	14.3693	0.66828	0.1478:0.8522:0.0:0.0	.	261	O43488	ARK72_HUMAN	M	261;216	ENSP00000235835:R261M;ENSP00000339084:R216M	ENSP00000235835:R261M	R	-	2	0	AKR7A2	19506089	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.489000	0.53237	2.553000	0.86117	0.655000	0.94253	AGG	AKR7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007165.2		-	ENST00000235835.3	Missense_Mutation	SNP	1 : 19633502 - 19633502 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	586	72
ITPR3	3710	broad.mit.edu	37	6	33630418	33630418	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33630418G>A	ENST00000374316.5	+	9	1885	c.825G>A	c.(823-825)tcG>tcA	p.S275S	ITPR3_ENST00000605930.1_Silent_p.S275S			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	275	MIR 3.				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CTGCCACCTCGGCCACCAGCT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	57	60			NA	NA	6		NA											NA				33630418		2203	4300	6503	SO:0001819	synonymous_variant			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433	3710	3710		Ion channels / Inositol triphosphate receptors	6182	protein-coding gene	gene with protein product		147267	inositol 1,4,5-triphosphate receptor, type 3		NA	8081734, 8288584	Standard	NM_002224	NM_002224	NA	Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.825G>A	6.37:g.33630418G>A		NA	Q14649|Q5TAQ2	37	CCDS4783.1																																																																																			ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040204.2		+	ENST00000374316.5	Silent	SNP	6 : 33630418 - 33630418 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	240	36
ABCB11	8647	broad.mit.edu	37	2	169869852	169869852	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:169869852A>G	ENST00000263817.6	-	5	443	c.319T>C	c.(319-321)Tgt>Cgt	p.C107R		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	107	ABC transmembrane type-1 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TTATTCACACATGCTTTTCCT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													246	234	238			NA	NA	2		NA											NA				169869852		1896	4136	6032	SO:0001583	missense			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734	8647	8647		ATP binding cassette transporters / subfamily B	42	protein-coding gene	gene with protein product	ABC member 16, MDR/TAP subfamily	603201	progressive familial intrahepatic cholestasis 2, bile salt export pump	BSEP, PFIC2	NA	9806540	Standard	NM_003742	NM_003742	NA	Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.319T>C	2.37:g.169869852A>G	ENSP00000263817:p.Cys107Arg	NA	Q53TL2|Q9UNB2	37	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	A	17.47	3.398189	0.62177	.	.	ENSG00000073734	ENST00000263817	D	0.86366	-2.11	5.41	5.41	0.78517	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.089899	0.85682	D	0.000000	D	0.89581	0.6756	L	0.36672	1.1	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	D	0.88189	0.2876	10	0.30078	T	0.28	-13.8408	15.4475	0.75243	1.0:0.0:0.0:0.0	.	107	O95342	ABCBB_HUMAN	R	107	ENSP00000263817:C107R	ENSP00000263817:C107R	C	-	1	0	ABCB11	169578098	1.000000	0.71417	0.988000	0.46212	0.790000	0.44656	8.305000	0.89960	2.043000	0.60533	0.454000	0.30748	TGT	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333616.2		-	ENST00000263817.6	Missense_Mutation	SNP	2 : 169869852 - 169869852 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1350	327
MAPK8IP3	23162	broad.mit.edu	37	16	1817158	1817158	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1817158T>C	ENST00000250894.4	+	26	3251	c.3094T>C	c.(3094-3096)Tgg>Cgg	p.W1032R	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.W1026R	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1032					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AGATGGCCAGTGGGATCTGAG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	102	98			NA	NA	16		NA											NA				1817158		2122	4236	6358	SO:0001583	missense			AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834	23162	23162			6884	protein-coding gene	gene with protein product	homolog of Drosophila Sunday driver 2	605431			NA	10523642, 10629060	Standard	NM_001040439	XM_005255187	NA	Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.3094T>C	16.37:g.1817158T>C	ENSP00000250894:p.Trp1032Arg	NA	A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	37	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	T	22.0	4.231571	0.79688	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.63744	-0.06;-0.06	4.03	4.03	0.46877	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81039	0.4740	M	0.88105	2.93	0.80722	D	1	D;D;D	0.89917	0.994;1.0;0.999	D;D;D	0.91635	0.983;0.999;0.998	D	0.84928	0.0858	10	0.87932	D	0	-12.7884	12.9591	0.58447	0.0:0.0:0.0:1.0	.	1033;1026;1032	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	R	1032;1026	ENSP00000250894:W1032R;ENSP00000348290:W1026R	ENSP00000250894:W1032R	W	+	1	0	MAPK8IP3	1757159	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.811000	0.86092	1.610000	0.50200	0.482000	0.46254	TGG	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250508.2		+	ENST00000250894.4	Missense_Mutation	SNP	16 : 1817158 - 1817158 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	932	176
RBM15	64783	broad.mit.edu	37	1	110882330	110882330	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110882330C>T	ENST00000369784.3	+	1	1203	c.303C>T	c.(301-303)gaC>gaT	p.D101D	RBM15_ENST00000602849.1_Silent_p.D101D|RBM15_ENST00000487146.2_Silent_p.D101D	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	101	Gly/Ser-rich.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		TCCACCTGGACAAGTCCAGCA	0.607		NA	T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	0													19	21	20			NA	NA	1		NA											NA				110882330		2200	4291	6491	SO:0001819	synonymous_variant			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775	64783	64783		RNA binding motif (RRM) containing	14959	protein-coding gene	gene with protein product	one twenty-two	606077			NA	11431691, 11344311	Standard	NM_022768	NM_001201545	NA	Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.303C>T	1.37:g.110882330C>T		1430	Q4V760|Q5D058|Q5T613|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	37	CCDS822.1																																																																																			RBM15-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000031114.2		+	ENST00000369784.3	Silent	SNP	1 : 110882330 - 110882330 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	209	12
ZNF19	7567	broad.mit.edu	37	16	71510112	71510112	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71510112C>A	ENST00000565637.1	-	5	781	c.212G>T	c.(211-213)gGg>gTg	p.G71V	ZNF19_ENST00000564230.1_Missense_Mutation_p.G113V|AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000567225.1_Intron|ZNF19_ENST00000565100.2_Missense_Mutation_p.G43V|ZNF19_ENST00000288177.5_Missense_Mutation_p.G113V			P17023	ZNF19_HUMAN	zinc finger protein 19	113	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		TGACATCATCCCATCTCTTTC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	101	105			NA	NA	16		NA											NA				71510112		2198	4300	6498	SO:0001583	missense			X52343	CCDS10901.1	16q22	2013-01-08	2006-05-10		ENSG00000157429	ENSG00000157429	7567	7567		Zinc fingers, C2H2-type, -	12981	protein-coding gene	gene with protein product		194525	zinc finger protein 19 (KOX 12)		NA	1505991, 1946370	Standard	NM_006961	NM_006961	NA	Approved	KOX12, MGC51021	uc002fam.1	P17023	OTTHUMG00000137593	ENST00000565637.1:c.212G>T	16.37:g.71510112C>A	ENSP00000454864:p.Gly71Val	NA	A8K895|Q86Y66|Q8NDE2|Q96M79|Q96NE5	37		.	.	.	.	.	.	.	.	.	.	C	5.104	0.204858	0.09704	.	.	ENSG00000157429	ENST00000288177	T	0.05258	3.47	3.0	-2.25	0.06888	.	2.866660	0.01468	N	0.016151	T	0.03178	0.0093	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40308	-0.9570	10	0.27785	T	0.31	.	6.4821	0.22069	0.3951:0.5005:0.1045:0.0	.	113	P17023	ZNF19_HUMAN	V	113	ENSP00000288177:G113V	ENSP00000288177:G113V	G	-	2	0	ZNF19	70067613	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.648000	0.00859	-0.534000	0.06315	-0.397000	0.06425	GGG	ZNF19-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000433805.1		-	ENST00000565637.1	Missense_Mutation	SNP	16 : 71510112 - 71510112 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	321	44
HIP1	3092	broad.mit.edu	37	7	75184851	75184851	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75184851G>T	ENST00000434438.2	-	19	1852	c.1832C>A	c.(1831-1833)tCt>tAt	p.S611Y	HIP1_ENST00000336926.6_Missense_Mutation_p.S611Y	NM_001243198.1	NP_001230127.1	O00291	HIP1_HUMAN	huntingtin interacting protein 1	611					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTGGCACATAGATTCCTAAAA	0.517		NA	T	PDGFRB	CMML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	0													56	51	53			NA	NA	7		NA											NA				75184851		2203	4300	6503	SO:0001583	missense			AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946	3092	3092			4913	protein-coding gene	gene with protein product		601767			NA	9140394, 9147654	Standard	NM_005338	NM_005338	NA	Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000434438.2:c.1832C>A	7.37:g.75184851G>T	ENSP00000410300:p.Ser611Tyr	NA	O00328|Q2TB58|Q8TDL4	37	CCDS59060.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.221613	0.39300	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.15487	2.64;2.42	5.76	5.76	0.90799	.	0.416790	0.23325	N	0.049414	T	0.12220	0.0297	N	0.08118	0	0.18873	N	0.999987	P;P	0.50710	0.74;0.938	B;P	0.46758	0.212;0.526	T	0.13282	-1.0515	10	0.62326	D	0.03	-6.2134	10.9381	0.47257	0.0855:0.0:0.9145:0.0	.	611;611	E7ES17;O00291	.;HIP1_HUMAN	Y	611	ENSP00000336747:S611Y;ENSP00000410300:S611Y	ENSP00000336747:S611Y	S	-	2	0	HIP1	75022787	0.840000	0.29493	0.421000	0.26609	0.059000	0.15707	3.945000	0.56637	2.721000	0.93114	0.655000	0.94253	TCT	HIP1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342864.2		-	ENST00000434438.2	Missense_Mutation	SNP	7 : 75184851 - 75184851 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	239	16
DOK5	55816	broad.mit.edu	37	20	53227033	53227033	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:53227033C>T	ENST00000262593.5	+	6	1056	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C	DOK5_ENST00000395939.1_Missense_Mutation_p.R128C	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	236	IRS-type PTB.						insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			GCAGCACGAGCGCTTGCTACA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	65	67			NA	NA	20		NA											NA				53227033		2203	4300	6503	SO:0001583	missense			AF132732	CCDS13446.1, CCDS13447.1	20q13.2	2013-01-10	2002-11-28	2002-11-29	ENSG00000101134	ENSG00000101134	55816	55816		Pleckstrin homology (PH) domain containing	16173	protein-coding gene	gene with protein product		608334	chromosome 20 open reading frame 180	C20orf180	NA	11470823	Standard		XM_005260451	NA	Approved	dJ805C22.1	uc002xwy.3	Q9P104	OTTHUMG00000032778	ENST00000262593.5:c.706C>T	20.37:g.53227033C>T	ENSP00000262593:p.Arg236Cys	NA	Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	37	CCDS13446.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961252	0.92791	.	.	ENSG00000101134	ENST00000262593;ENST00000395939	D;D	0.83250	-1.7;-1.7	5.78	5.78	0.91487	Insulin receptor substrate-1, PTB (1);	0.048112	0.85682	D	0.000000	D	0.89687	0.6787	M	0.74881	2.28	0.80722	D	1	D;D	0.76494	0.999;0.975	P;B	0.57846	0.828;0.232	D	0.90145	0.4216	10	0.66056	D	0.02	-34.542	19.0159	0.92894	0.0:1.0:0.0:0.0	.	128;236	Q9P104-2;Q9P104	.;DOK5_HUMAN	C	236;128	ENSP00000262593:R236C;ENSP00000379270:R128C	ENSP00000262593:R236C	R	+	1	0	DOK5	52660440	1.000000	0.71417	0.987000	0.45799	0.958000	0.62258	4.543000	0.60684	2.732000	0.93576	0.655000	0.94253	CGC	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079777.2		+	ENST00000262593.5	Missense_Mutation	SNP	20 : 53227033 - 53227033 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	50
NR2E1	7101	broad.mit.edu	37	6	108499328	108499328	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108499328G>A	ENST00000368986.4	+	5	1233	c.525G>A	c.(523-525)atG>atA	p.M175I	NR2E1_ENST00000368983.3_Missense_Mutation_p.M212I|NR2E1_ENST00000484978.1_3'UTR	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	175					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		GGACCCCAATGTATCTCTATG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	101	104			NA	NA	6		NA											NA				108499328		2203	4300	6503	SO:0001583	missense			Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333	7101	7101		Nuclear hormone receptors	7973	protein-coding gene	gene with protein product		603849		TLX	NA	9628820	Standard		NM_003269	NA	Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.525G>A	6.37:g.108499328G>A	ENSP00000357982:p.Met175Ile	NA		37	CCDS5063.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.780984	0.49891	.	.	ENSG00000112333	ENST00000368986;ENST00000368983	D;D	0.90955	-2.75;-2.76	5.6	5.6	0.85130	Nuclear hormone receptor, ligand-binding (2);	0.222165	0.53938	D	0.000048	T	0.70081	0.3183	N	0.03608	-0.345	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.66705	-0.5856	10	0.21540	T	0.41	.	17.4002	0.87458	0.0:0.0:1.0:0.0	.	175	Q9Y466	NR2E1_HUMAN	I	175;212	ENSP00000357982:M175I;ENSP00000357979:M212I	ENSP00000357979:M212I	M	+	3	0	NR2E1	108606021	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.198000	0.72106	2.642000	0.89623	0.650000	0.86243	ATG	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041712.2		+	ENST00000368986.4	Missense_Mutation	SNP	6 : 108499328 - 108499328 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	409	68
TWISTNB	221830	broad.mit.edu	37	7	19744544	19744544	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:19744544C>T	ENST00000222567.5	-	2	325		c.e2-1			NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	NA						microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						ACCTAAAAGGCTGTAAAAAGA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	67	67			NA	NA	7		NA											NA				19744544		2203	4300	6503	SO:0001630	splice_region_variant			AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849	221830	221830			18027	protein-coding gene	gene with protein product		608312			NA	12438708	Standard		NM_001002926	NA	Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.255-1G>A	7.37:g.19744544C>T		NA	A0PJ45|B7Z724	37	CCDS34606.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533348	0.45073	.	.	ENSG00000105849	ENST00000222567	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3533	0.90345	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TWISTNB	19711069	1.000000	0.71417	1.000000	0.80357	0.480000	0.33159	6.716000	0.74702	2.531000	0.85337	0.655000	0.94253	.	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326463.1	Intron	-	ENST00000222567.5	Splice_Site	SNP	7 : 19744544 - 19744544 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	44
GABPA	2551	broad.mit.edu	37	21	27141374	27141374	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27141374T>G	ENST00000354828.3	+	10	1723	c.1196T>G	c.(1195-1197)tTt>tGt	p.F399C	GABPA_ENST00000400075.3_Missense_Mutation_p.F399C	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	399					positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						GTGTACAAGTTTGTCTGTGAC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	108	107			NA	NA	21		NA											NA				27141374		2203	4300	6503	SO:0001583	missense				CCDS13575.1	21q21-q22.1	2008-07-31	2002-08-29		ENSG00000154727	ENSG00000154727	2551	2551			4071	protein-coding gene	gene with protein product	human nuclear respiratory factor-2 subunit alpha, nuclear respiratory factor 2 alpha subunit	600609	GA-binding protein transcription factor, alpha subunit (60kD)		NA	8441384	Standard	NM_002040	NM_002040	NA	Approved	E4TF1A, NFT2, NRF2, E4TF1-60, NRF2A	uc002yly.4	Q06546	OTTHUMG00000078443	ENST00000354828.3:c.1196T>G	21.37:g.27141374T>G	ENSP00000346886:p.Phe399Cys	NA	Q12939	37	CCDS13575.1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.846514	0.71603	.	.	ENSG00000154727	ENST00000354828;ENST00000400075	T;T	0.36699	1.24;1.24	5.87	5.87	0.94306	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.046101	0.85682	D	0.000000	T	0.73458	0.3589	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83257	-0.0050	10	0.87932	D	0	.	15.9351	0.79698	0.0:0.0:0.0:1.0	.	399	Q06546	GABPA_HUMAN	C	399	ENSP00000346886:F399C;ENSP00000382948:F399C	ENSP00000346886:F399C	F	+	2	0	GABPA	26063245	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.649000	0.83500	2.247000	0.74100	0.477000	0.44152	TTT	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000171365.1		+	ENST00000354828.3	Missense_Mutation	SNP	21 : 27141374 - 27141374 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1086	212
GHR	2690	broad.mit.edu	37	5	42699999	42699999	+	Silent	SNP	C	C	T	rs45477803	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:42699999C>T	ENST00000230882.4	+	6	703	c.513C>T	c.(511-513)atC>atT	p.I171I	GHR_ENST00000357703.3_Silent_p.I149I|GHR_ENST00000537449.1_5'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	171	Fibronectin type-III.		I -> T (in LARS; almost completely abolishes GH-binding at cell surface: 53% binding to membrane fractions).		2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ATGCAGATATCCAAGTGAGAT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	118	124			NA	NA	5		NA											NA				42699999		2203	4300	6503	SO:0001819	synonymous_variant				CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964	2690	2690		Fibronectin type III domain containing	4263	protein-coding gene	gene with protein product	growth hormone binding protein	600946			NA		Standard	NM_000163	NM_001242460	NA	Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.513C>T	5.37:g.42699999C>T		NA	Q9HCX2	37	CCDS3940.1																																																																																			GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000211605.2		+	ENST00000230882.4	Silent	SNP	5 : 42699999 - 42699999 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	345	56
C3	718	broad.mit.edu	37	19	6712565	6712565	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6712565G>A	ENST00000245907.6	-	10	1165	c.1073C>T	c.(1072-1074)aCc>aTc	p.T358I		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	358					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GGGTGTCTTGGTGAAGTGGAT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													257	229	239			NA	NA	19		NA											NA				6712565		2203	4300	6503	SO:0001583	missense			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	718	718	3.4.21.43	Complement system, Endogenous ligands	1318	protein-coding gene	gene with protein product	C3a anaphylatoxin, complement component C3a, complement component C3b, prepro-C3	120700			NA		Standard	NM_000064	NM_000064	NA	Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.1073C>T	19.37:g.6712565G>A	ENSP00000245907:p.Thr358Ile	NA	A7E236	37	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824585	0.71143	.	.	ENSG00000125730	ENST00000245907	T	0.31769	1.48	5.13	5.13	0.70059	.	0.153860	0.56097	D	0.000025	T	0.55401	0.1918	M	0.84082	2.675	0.31171	N	0.703253	D	0.89917	1.0	D	0.77557	0.99	T	0.60301	-0.7290	10	0.24483	T	0.36	.	13.1534	0.59503	0.0:0.1611:0.8389:0.0	.	358	P01024	CO3_HUMAN	I	358	ENSP00000245907:T358I	ENSP00000245907:T358I	T	-	2	0	C3	6663565	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.349000	0.44054	2.392000	0.81423	0.561000	0.74099	ACC	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317636.2		-	ENST00000245907.6	Missense_Mutation	SNP	19 : 6712565 - 6712565 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1088	77
TXNRD2	10587	broad.mit.edu	37	22	19882713	19882713	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19882713G>T	ENST00000491939.1	-	0	949				TXNRD2_ENST00000400518.1_Intron|TXNRD2_ENST00000400519.1_Intron|TXNRD2_ENST00000400521.1_Intron|TXNRD2_ENST00000542719.1_Intron|TXNRD2_ENST00000334363.9_Silent_p.I320I|TXNRD2_ENST00000535882.1_Intron			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	NA					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					GACACGCAGAGATGCAAGGTG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	62	64			NA	NA	22		NA											NA				19882713		876	1991	2867	SO:0001623	5_prime_UTR_variant			AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470	10587	10587			18155	protein-coding gene	gene with protein product	thioredoxin reductase beta, selenoprotein Z	606448			NA	9923614, 10215850, 11012661	Standard	NM_006440	NM_006440	NA	Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000491939.1:c.-931C>A	22.37:g.19882713G>T		NA	O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	37																																																																																				TXNRD2-005	KNOWN	basic	processed_transcript	NA	protein_coding	OTTHUMT00000314905.2		-	ENST00000491939.1	5'UTR	SNP	22 : 19882713 - 19882713 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	223	40
NCOR2	9612	broad.mit.edu	37	12	124827723	124827723	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124827723C>T	ENST00000405201.1	-	33	4764	c.4764G>A	c.(4762-4764)acG>acA	p.T1588T	NCOR2_ENST00000356219.3_Silent_p.T1595T|NCOR2_ENST00000404121.2_Silent_p.T1149T|NCOR2_ENST00000429285.2_Silent_p.T1578T|NCOR2_ENST00000404621.1_Silent_p.T1578T|NCOR2_ENST00000397355.1_Silent_p.T1579T			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1596					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCTCACGAGGCGTCGACGTCA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	56	53			NA	NA	12		NA											NA				124827723		2175	4254	6429	SO:0001819	synonymous_variant			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498	9612	9612			7673	protein-coding gene	gene with protein product		600848	nuclear receptor co-repressor 2		NA	7566127, 8813722	Standard	NM_006312	NM_001077261	NA	Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.4764G>A	12.37:g.124827723C>T		NA	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	37	CCDS41858.2																																																																																			NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318173.2		-	ENST00000405201.1	Silent	SNP	12 : 124827723 - 124827723 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	280	22
ZNF649	65251	broad.mit.edu	37	19	52394796	52394796	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52394796C>A	ENST00000354957.3	-	5	877	c.593G>T	c.(592-594)aGa>aTa	p.R198I	CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Missense_Mutation_p.R198I	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TGTATGAATTCTCTTATGCTC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ILE/ARG	0,4406		0,0,2203	146	139	141		593	-5.1	0	19		141	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF649	NM_023074.3	97	0,1,6502	AA,AC,CC	NA	0.0116,0.0,0.0077	probably-damaging	198/506	52394796	1,13005	2203	4300	6503	SO:0001583	missense			BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093	65251	65251		Zinc fingers, C2H2-type, -	25741	protein-coding gene	gene with protein product		611903			NA	15950191	Standard	NM_023074	NM_023074	NA	Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.593G>T	19.37:g.52394796C>A	ENSP00000347043:p.Arg198Ile	NA	A8MYJ5|B2RDC4|Q9H9N2	37	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	C	8.377	0.836738	0.16891	0.0	1.16E-4	ENSG00000198093	ENST00000354957	T	0.24908	1.83	2.79	-5.05	0.02955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22820	0.0551	M	0.80422	2.495	0.09310	N	1	B	0.19935	0.04	B	0.14578	0.011	T	0.47573	-0.9107	9	0.72032	D	0.01	.	0.4485	0.00497	0.267:0.3071:0.1322:0.2937	.	198	Q9BS31	ZN649_HUMAN	I	198	ENSP00000347043:R198I	ENSP00000347043:R198I	R	-	2	0	ZNF649	57086608	0.000000	0.05858	0.001000	0.08648	0.316000	0.28119	-0.963000	0.03837	-0.788000	0.04504	0.404000	0.27445	AGA	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461097.1		-	ENST00000354957.3	Missense_Mutation	SNP	19 : 52394796 - 52394796 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	765	138
MYCBP2	23077	broad.mit.edu	37	13	77736067	77736067	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77736067C>A	ENST00000544440.2	-	44	6474	c.6457G>T	c.(6457-6459)Gaa>Taa	p.E2153*	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Nonsense_Mutation_p.E2191*|MYCBP2_ENST00000357337.6_Nonsense_Mutation_p.E2153*			O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCAAGAATTTCAAGGTCTTCT	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	87	85			NA	NA	13		NA											NA				77736067		2203	4298	6501	SO:0001587	stop_gained			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810	23077	23077			23386	protein-coding gene	gene with protein product		610392	MYC binding protein 2		NA	9689053, 15057823	Standard	NM_015057	NM_015057	NA	Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.6457G>T	13.37:g.77736067C>A	ENSP00000444596:p.Glu2153*	NA	A6NJC6|Q5JSX8|Q5VZN6|Q6PIB6|Q9UQ11|Q9Y6E4	37		.	.	.	.	.	.	.	.	.	.	C	47	13.314540	0.99734	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	.	.	.	5.72	5.72	0.89469	.	0.055132	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	19.8938	0.96942	0.0:1.0:0.0:0.0	.	.	.	.	X	2153;2191;2153	.	ENSP00000349892:E2153X	E	-	1	0	MYCBP2	76634068	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	6.316000	0.72857	2.703000	0.92315	0.460000	0.39030	GAA	MYCBP2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000045326.1		-	ENST00000544440.2	Nonsense_Mutation	SNP	13 : 77736067 - 77736067 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	429	75
SMC3	9126	broad.mit.edu	37	10	112328724	112328724	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:112328724G>T	ENST00000361804.4	+	2	170	c.44G>T	c.(43-45)aGa>aTa	p.R15I	SMC3_ENST00000462899.1_3'UTR	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	15					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		CGAAGTTACAGAGATCAAACA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	163	164			NA	NA	10		NA											NA				112328724		2203	4298	6501	SO:0001583	missense			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055	9126	9126		Structural maintenance of chromosomes proteins, Proteoglycans / Extracellular Matrix : Other	2468	protein-coding gene	gene with protein product	bamacan proteoglycan	606062	chondroitin sulfate proteoglycan 6 (bamacan)	CSPG6	NA	9506951, 10358101	Standard	NM_005445	NM_005445	NA	Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.44G>T	10.37:g.112328724G>T	ENSP00000354720:p.Arg15Ile	NA	A8K156|O60464|Q5T482	37	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	G	32	5.193181	0.94960	.	.	ENSG00000108055	ENST00000361804	D	0.90504	-2.68	5.53	5.53	0.82687	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.95962	0.8685	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.95983	0.8979	10	0.56958	D	0.05	.	18.4595	0.90734	0.0:0.0:1.0:0.0	.	15	Q9UQE7	SMC3_HUMAN	I	15	ENSP00000354720:R15I	ENSP00000354720:R15I	R	+	2	0	SMC3	112318714	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.051000	0.93849	2.587000	0.87381	0.563000	0.77884	AGA	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050337.1		+	ENST00000361804.4	Missense_Mutation	SNP	10 : 112328724 - 112328724 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	377	60
DGKD	8527	broad.mit.edu	37	2	234299129	234299129	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234299129G>A	ENST00000264057.2	+	3	360	c.348G>A	c.(346-348)acG>acA	p.T116T	AC019221.4_ENST00000442524.1_RNA|DGKD_ENST00000409813.3_Splice_Site_p.T72T	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	116	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	ACAGTTTTACGGTAAGATTCC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	1,4405	2.1+/-5.4	0,1,2202	171	155	161		216,348	3.8	1	2		161	0,8600		0,0,4300	no	coding-synonymous-near-splice,coding-synonymous-near-splice	DGKD	NM_003648.2,NM_152879.2	,	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	,	72/1171,116/1215	234299129	1,13005	2203	4300	6503	SO:0001630	splice_region_variant			D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044	8527	8527		Sterile alpha motif (SAM) domain containing, Pleckstrin homology (PH) domain containing	2851	protein-coding gene	gene with protein product	diglyceride kinase	601826	diacylglycerol kinase, delta (130kD)		NA	8626538, 12810723	Standard	NM_003648	NM_003648	NA	Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.348+1G>A	2.37:g.234299129G>A		NA	Q14158|Q6PK55|Q8NG53	37	CCDS2504.1																																																																																			DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257072.2	Silent	+	ENST00000264057.2	Splice_Site	SNP	2 : 234299129 - 234299129 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	268	73
OPN1SW	611	broad.mit.edu	37	7	128415770	128415770	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128415770C>A	ENST00000249389.2	-	1	74	c.75G>T	c.(73-75)caG>caT	p.Q25H		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	25					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						CAATGTGGTACTGAGGCCCAT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	86	85			NA	NA	7		NA											NA				128415770		2203	4300	6503	SO:0001583	missense			U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617	611	611		GPCR / Class A : Opsin receptors	1012	protein-coding gene	gene with protein product	color blindness, tritan, blue-sensitive opsin	613522	blue cone photoreceptor pigment	BCP	NA	2937147, 8270261	Standard	NM_001708	NM_001708	NA	Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.75G>T	7.37:g.128415770C>A	ENSP00000249389:p.Gln25His	NA	Q13877	37	CCDS5806.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400767	0.62177	.	.	ENSG00000128617	ENST00000249389	T	0.37915	1.17	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.69360	0.3102	H	0.96576	3.845	0.49213	D	0.999768	D	0.71674	0.998	D	0.87578	0.998	T	0.77029	-0.2739	10	0.87932	D	0	.	9.0173	0.36177	0.0:0.9022:0.0:0.0978	.	25	P03999	OPSB_HUMAN	H	25	ENSP00000249389:Q25H	ENSP00000249389:Q25H	Q	-	3	2	OPN1SW	128203006	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.381000	0.44336	2.538000	0.85594	0.462000	0.41574	CAG	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350655.1		-	ENST00000249389.2	Missense_Mutation	SNP	7 : 128415770 - 128415770 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	616	92
ADAMTS3	9508	broad.mit.edu	37	4	73161482	73161482	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73161482C>A	ENST00000286657.4	-	19	2648	c.2612G>T	c.(2611-2613)gGa>gTa	p.G871V		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	871	TSP type-1 2.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCTACGGCATCCATATTTAGT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(168;1941 2048 2918 13048 43078)							NA				0													127	114	118			NA	NA	4		NA											NA				73161482		2203	4300	6503	SO:0001583	missense			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	9508	9508	3.4.24.-	ADAM metallopeptidases with thrombospondin type 1 motif	219	protein-coding gene	gene with protein product		605011	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3		NA	10094461	Standard		NM_014243	NA	Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2612G>T	4.37:g.73161482C>A	ENSP00000286657:p.Gly871Val	NA	A1L3U9|Q9BXZ8	37	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053048	0.75960	.	.	ENSG00000156140	ENST00000286657	T	0.59364	0.27	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000001	T	0.67258	0.2874	L	0.39245	1.2	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.60469	-0.7257	10	0.14656	T	0.56	.	18.6029	0.91255	0.0:1.0:0.0:0.0	.	871	O15072	ATS3_HUMAN	V	871	ENSP00000286657:G871V	ENSP00000286657:G871V	G	-	2	0	ADAMTS3	73380346	1.000000	0.71417	0.990000	0.47175	0.925000	0.55904	7.776000	0.85560	2.379000	0.81126	0.650000	0.86243	GGA	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252164.2		-	ENST00000286657.4	Missense_Mutation	SNP	4 : 73161482 - 73161482 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	449	83
UBTD1	80019	broad.mit.edu	37	10	99330200	99330200	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99330200A>G	ENST00000370664.3	+	3	940	c.604A>G	c.(604-606)Aca>Gca	p.T202A		NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	202	Ubiquitin-like.									central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		CACAGACCGCACACGGCTCCA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(100;169 2668 32720)							NA				0													47	45	46			NA	NA	10		NA											NA				99330200		2203	4300	6503	SO:0001583	missense			BC007331	CCDS7465.1	10q24.2	2005-09-22			ENSG00000165886	ENSG00000165886	80019	80019			25683	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024954	NM_024954	NA	Approved	FLJ11807	uc001knv.1	Q9HAC8	OTTHUMG00000018856	ENST00000370664.3:c.604A>G	10.37:g.99330200A>G	ENSP00000359698:p.Thr202Ala	NA	D3DR57|Q53HI3	37	CCDS7465.1	.	.	.	.	.	.	.	.	.	.	A	11.62	1.692848	0.30052	.	.	ENSG00000165886	ENST00000370664	T	0.74421	-0.84	5.73	5.73	0.89815	Ubiquitin supergroup (1);Ubiquitin (2);	0.143055	0.64402	D	0.000006	T	0.70456	0.3226	L	0.42245	1.32	0.38786	D	0.954884	P	0.44986	0.847	P	0.46510	0.519	T	0.68262	-0.5455	10	0.08381	T	0.77	-5.7565	16.0082	0.80377	1.0:0.0:0.0:0.0	.	202	Q9HAC8	UBTD1_HUMAN	A	202	ENSP00000359698:T202A	ENSP00000359698:T202A	T	+	1	0	UBTD1	99320190	1.000000	0.71417	0.949000	0.38748	0.004000	0.04260	7.576000	0.82467	2.324000	0.78689	0.533000	0.62120	ACA	UBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049701.1		+	ENST00000370664.3	Missense_Mutation	SNP	10 : 99330200 - 99330200 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	402	71
FITM2	128486	broad.mit.edu	37	20	42935305	42935305	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42935305C>A	ENST00000396825.3	-	2	769	c.749G>T	c.(748-750)aGc>aTc	p.S250I		NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	250					cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process	integral to endoplasmic reticulum membrane				endometrium(2)|lung(2)|skin(2)	6						CAAACTACAGCTCTGGGGAGG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	64	62			NA	NA	20		NA											NA				42935305		2203	4300	6503	SO:0001583	missense			BC029662	CCDS33473.1	20q13.12	2009-04-29	2009-04-29	2009-04-29	ENSG00000197296	ENSG00000197296	128486	128486			16135	protein-coding gene	gene with protein product	fat inducing transcript 2	612029	chromosome 20 open reading frame 142	C20orf142	NA	18160536	Standard	XM_371399	NM_001080472	NA	Approved	dJ881L22.2, FIT2	uc002xlr.1	Q8N6M3	OTTHUMG00000032522	ENST00000396825.3:c.749G>T	20.37:g.42935305C>A	ENSP00000380037:p.Ser250Ile	NA	A1L492|B9EGQ4|Q5TE59|Q9H3Y1	37	CCDS33473.1	.	.	.	.	.	.	.	.	.	.	C	7.967	0.748150	0.15710	.	.	ENSG00000197296	ENST00000396825	.	.	.	5.76	3.81	0.43845	.	0.338611	0.37530	N	0.002041	T	0.38878	0.1057	L	0.34521	1.04	0.34742	D	0.730827	B	0.23316	0.083	B	0.15870	0.014	T	0.46119	-0.9214	9	0.59425	D	0.04	.	8.5745	0.33590	0.0:0.7255:0.1277:0.1468	.	250	Q8N6M3	FITM2_HUMAN	I	250	.	ENSP00000380037:S250I	S	-	2	0	FITM2	42368719	0.462000	0.25791	0.864000	0.33941	0.123000	0.20343	0.806000	0.27126	0.760000	0.33108	-0.150000	0.13652	AGC	FITM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079342.2		-	ENST00000396825.3	Missense_Mutation	SNP	20 : 42935305 - 42935305 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	479	72
NTNG2	84628	broad.mit.edu	37	9	135073905	135073905	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135073905C>T	ENST00000393229.3	+	3	1542	c.766C>T	c.(766-768)Ctg>Ttg	p.L256L	NTNG2_ENST00000372179.3_Silent_p.L256L|NTNG2_ENST00000360670.3_Silent_p.L256L|NTNG2_ENST00000393228.4_Silent_p.L256L	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	256	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GCGCATGCGGCTGCTGCGCCC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	47	45			NA	NA	9		NA											NA				135073905		2201	4294	6495	SO:0001819	synonymous_variant			AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358	84628	84628		Netrins	14288	protein-coding gene	gene with protein product	Netrin-G2		netrin G1	NTNG1	NA		Standard	NM_032536	NM_032536	NA	Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.766C>T	9.37:g.135073905C>T		NA	Q5JUJ2|Q6UXY0|Q96JH0	37	CCDS6946.1																																																																																			NTNG2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054779.1		+	ENST00000393229.3	Silent	SNP	9 : 135073905 - 135073905 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	555	21
KCNJ2	3759	broad.mit.edu	37	17	68171388	68171388	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:68171388G>A	ENST00000243457.3	+	2	591	c.208G>A	c.(208-210)Gca>Aca	p.A70T	KCNJ2_ENST00000535240.1_Missense_Mutation_p.A70T	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	70					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					ACGGTACCTCGCAGACATCTT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													216	156	176			NA	NA	17		NA											NA				68171388		2203	4300	6503	SO:0001583	missense			AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700	3759	3759		Potassium channels, Voltage-gated ion channels / Potassium channels, Inwardly rectifying	6263	protein-coding gene	gene with protein product		600681			NA	7696590, 11240146, 16382105	Standard	NM_000891	NM_000891	NA	Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.208G>A	17.37:g.68171388G>A	ENSP00000243457:p.Ala70Thr	NA	O15110|P48049	37	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	G	9.102	1.004413	0.19199	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.93953	-3.32;-3.32	5.66	5.66	0.87406	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.048397	0.85682	D	0.000000	D	0.88934	0.6572	L	0.35487	1.065	0.53005	D	0.999968	B	0.25743	0.133	B	0.26416	0.069	D	0.84807	0.0788	9	.	.	.	.	14.5682	0.68194	0.0:0.0:0.8539:0.1461	.	70	P63252	IRK2_HUMAN	T	70	ENSP00000441848:A70T;ENSP00000243457:A70T	.	A	+	1	0	KCNJ2	65682983	1.000000	0.71417	0.944000	0.38274	0.766000	0.43426	7.871000	0.87180	2.662000	0.90505	0.555000	0.69702	GCA	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450889.1		+	ENST00000243457.3	Missense_Mutation	SNP	17 : 68171388 - 68171388 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	496	92
ZNF550	162972	broad.mit.edu	37	19	58059348	58059348	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58059348T>G	ENST00000457177.1	-	4	444	c.264A>C	c.(262-264)caA>caC	p.Q88H	ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000325134.5_Missense_Mutation_p.Q56H|ZNF550_ENST00000506609.2_Missense_Mutation_p.Q47H|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000602149.1_Intron			Q7Z398	ZN550_HUMAN	zinc finger protein 550	88					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGGTATGAACTTGTGCTCTGT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	79	78			NA	NA	19		NA											NA				58059348		2203	4300	6503	SO:0001583	missense			AL833214	CCDS35500.1, CCDS35500.2	19q13.43	2013-05-22			ENSG00000251369	ENSG00000251369	162972	162972		Zinc fingers, C2H2-type	28643	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_153231	NM_001277090	NA	Approved	MGC41917	uc002qpd.4	Q7Z398	OTTHUMG00000133709	ENST00000457177.1:c.264A>C	19.37:g.58059348T>G	ENSP00000469679:p.Gln88His	NA	B3KVF6|O43337|Q7Z6D7|Q8NE45	37		.	.	.	.	.	.	.	.	.	.	T	13.70	2.314786	0.40996	.	.	ENSG00000251369	ENST00000344222;ENST00000325134;ENST00000506609	T;T	0.22743	1.94;1.94	3.72	1.54	0.23209	.	.	.	.	.	T	0.16085	0.0387	L	0.32530	0.975	0.09310	N	1	P	0.39624	0.681	B	0.41946	0.371	T	0.16276	-1.0408	9	0.56958	D	0.05	.	3.8379	0.08902	0.0:0.1185:0.2194:0.6621	.	56	Q7Z398-2	.	H	88;56;47	ENSP00000446224:Q56H;ENSP00000422344:Q47H	ENSP00000446224:Q56H	Q	-	3	2	AC003682.1	62751160	0.000000	0.05858	0.001000	0.08648	0.123000	0.20343	-0.094000	0.11094	0.138000	0.18790	0.533000	0.62120	CAA	ZNF550-001	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000257992.2		-	ENST00000457177.1	Missense_Mutation	SNP	19 : 58059348 - 58059348 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	679	121
VNN3	55350	broad.mit.edu	37	6	133047932	133047932	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:133047932G>A	ENST00000450865.2	-	3	465	c.393C>T	c.(391-393)ttC>ttT	p.F131F	VNN3_ENST00000427187.2_Intron|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000423615.2_Intron|VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000275223.3_Intron|VNN3_ENST00000509351.1_Intron|VNN3_ENST00000417437.2_Intron|VNN3_ENST00000367927.5_Nonsense_Mutation_p.Q253*|VNN3_ENST00000207771.3_Missense_Mutation_p.S252L|VNN3_ENST00000392393.3_3'UTR					vanin 3	NA										cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		GGCCCATGCTGAATGGAAGGG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													203	154	170			NA	NA	6		NA											NA				133047932		2203	4300	6503	SO:0001819	synonymous_variant			AJ238982		6q23.2	2014-04-09	2010-11-15	2010-11-15	ENSG00000093134	ENSG00000093134	55350	55350	3.5.1.92	Vanins	16431	other	unknown		606592			NA	10501839, 19932582, 19322213	Standard	NR_028290	NR_028290	NA	Approved	HSA238982	uc010kfs.3	Q9NY84	OTTHUMG00000015589	ENST00000450865.2:c.393C>T	6.37:g.133047932G>A		NA		37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.67|15.67	2.903232|2.903232	0.52333|0.52333	.|.	.|.	ENSG00000093134|ENSG00000093134	ENST00000367927|ENST00000207771	.|D	.|0.85171	.|-1.95	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.000000	.|0.64402	.|D	.|0.000016	.|D	.|0.88291	.|0.6397	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.85918	.|0.1444	.|7	0.66056|0.35671	D|T	0.02|0.21	-21.5543|-21.5543	19.5961|19.5961	0.95538|0.95538	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	253|252	.|ENSP00000440594:S252L	ENSP00000438024:Q253X|ENSP00000440594:S252L	Q|S	-|-	1|2	0|0	VNN3|VNN3	133089625|133089625	0.763000|0.763000	0.28462|0.28462	0.195000|0.195000	0.23364|0.23364	0.330000|0.330000	0.28571|0.28571	2.273000|2.273000	0.43381|0.43381	2.713000|2.713000	0.92767|0.92767	0.591000|0.591000	0.81541|0.81541	CAG|TCA	VNN3-013	NOVEL	NMD_exception|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000398418.1		-	ENST00000450865.2	Silent	SNP	6 : 133047932 - 133047932 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	721	129
EHMT1	79813	broad.mit.edu	37	9	140672344	140672344	+	Missense_Mutation	SNP	C	C	T	rs137852719		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140672344C>T	ENST00000462484.1	+	13	2066	c.2029C>T	c.(2029-2031)Cca>Tca	p.P677S	EHMT1_ENST00000334856.6_Missense_Mutation_p.P646S|EHMT1_ENST00000460843.1_Missense_Mutation_p.P677S|EHMT1_ENST00000371394.2_3'UTR	NM_001145527.1	NP_001138999.1	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	677					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TGCTGCCGGGCCACCACTCTC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	118	112			NA	NA	9		NA											NA				140672344		2203	4300	6503	SO:0001583	missense			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	79813	79813	2.1.1.43	Chromatin-modifying enzymes / K-methyltransferases, Ankyrin repeat domain containing	24650	protein-coding gene	gene with protein product		607001	euchromatic histone methyltransferase 1		NA	11347906, 12004135	Standard	NM_024757	NM_024757	NA	Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000462484.1:c.2029C>T	9.37:g.140672344C>T	ENSP00000417328:p.Pro677Ser	NA	B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	37	CCDS56595.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.312869	0.23908	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.68181	1.79;1.04;-0.31	4.66	-0.427	0.12310	.	0.780783	0.11933	N	0.515534	T	0.37210	0.0995	N	0.11427	0.14	0.09310	N	1	B;B;B	0.24132	0.002;0.098;0.004	B;B;B	0.23716	0.003;0.048;0.009	T	0.19844	-1.0293	10	0.13470	T	0.59	.	2.8511	0.05558	0.3537:0.4192:0.1222:0.1049	.	677;646;677	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	S	646;646;677;677	ENSP00000334476:P646S;ENSP00000417328:P677S;ENSP00000417980:P677S	ENSP00000334476:P646S	P	+	1	0	EHMT1	139792165	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.289000	0.08365	0.106000	0.17784	0.561000	0.74099	CCA	EHMT1-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348982.1		+	ENST00000462484.1	Missense_Mutation	SNP	9 : 140672344 - 140672344 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1384	223
AIFM1	9131	broad.mit.edu	37	X	129263959	129263959	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129263959G>A	ENST00000287295.3	-	15	1986	c.1756C>T	c.(1756-1758)Cca>Tca	p.P586S	AIFM1_ENST00000440263.1_Missense_Mutation_p.P234S|AIFM1_ENST00000460436.2_Missense_Mutation_p.P247S|AIFM1_ENST00000319908.3_Missense_Mutation_p.P582S|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000346424.2_Missense_Mutation_p.P299S	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	586					activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						CTTGCTATTGGCATTCGGTTA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	130	139			NA	NA	X		NA											NA				129263959		2203	4300	6503	SO:0001583	missense			AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709	9131	9131			8768	protein-coding gene	gene with protein product		300169	programmed cell death 8 (apoptosis-inducing factor), neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)	PDCD8, NAMSD	NA	9989411, 23217327	Standard		NM_004208	NA	Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.1756C>T	X.37:g.129263959G>A	ENSP00000287295:p.Pro586Ser	NA	A4QPB4|B1ALN1|B2RB08|D3DTE9|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	37	CCDS14618.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.842653	0.32606	.	.	ENSG00000156709	ENST00000460436;ENST00000346424;ENST00000319908;ENST00000440263;ENST00000287295	T;T;D;T;T	0.82255	1.06;1.05;-1.59;1.06;-0.59	4.94	3.03	0.35002	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (1);	0.000000	0.85682	D	0.000000	T	0.73659	0.3615	L	0.42487	1.325	0.80722	D	1	B;P;P	0.42941	0.057;0.747;0.794	B;B;B	0.38020	0.026;0.263;0.135	T	0.69602	-0.5101	10	0.27082	T	0.32	-8.0288	10.8515	0.46773	0.0:0.1371:0.7176:0.1453	.	299;582;586	O95831-2;O95831-3;O95831	.;.;AIFM1_HUMAN	S	247;299;582;234;586	ENSP00000431222:P247S;ENSP00000316320:P299S;ENSP00000315122:P582S;ENSP00000405879:P234S;ENSP00000287295:P586S	ENSP00000287295:P586S	P	-	1	0	AIFM1	129091640	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.429000	0.80309	1.028000	0.39785	0.600000	0.82982	CCA	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058247.2		-	ENST00000287295.3	Missense_Mutation	SNP	X : 129263959 - 129263959 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	695	195
KIF16B	55614	broad.mit.edu	37	20	16348282	16348282	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:16348282A>T	ENST00000408042.1	-	23	3845	c.3688T>A	c.(3688-3690)Ttt>Att	p.F1230I	KIF16B_ENST00000354981.2_Intron|KIF16B_ENST00000378003.2_Intron|KIF16B_ENST00000355755.3_Intron	NM_001199866.1	NP_001186795.1	Q96L93	KI16B_HUMAN	kinesin family member 16B	0	PX.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CCATGAAGAAAGTAAATCATG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	39	40			NA	NA	20		NA											NA				16348282		876	1991	2867	SO:0001583	missense			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177	55614	55614		Kinesins	15869	protein-coding gene	gene with protein product			chromosome 20 open reading frame 23	C20orf23	NA	16084724, 16782399	Standard	NM_017683	NM_024704	NA	Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000408042.1:c.3688T>A	20.37:g.16348282A>T	ENSP00000384164:p.Phe1230Ile	NA	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	37	CCDS56178.1	.	.	.	.	.	.	.	.	.	.	A	14.97	2.694082	0.48202	.	.	ENSG00000089177	ENST00000408042	T	0.69435	-0.4	5.47	3.12	0.35913	.	0.164050	0.53938	D	0.000041	T	0.49779	0.1577	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37596	-0.9699	9	0.42905	T	0.14	.	3.5194	0.07736	0.6515:0.1419:0.0713:0.1353	.	1230	Q96L93-2	.	I	1230	ENSP00000384164:F1230I	ENSP00000384164:F1230I	F	-	1	0	KIF16B	16296282	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	0.976000	0.29462	0.320000	0.23234	0.445000	0.29226	TTT	KIF16B-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078102.2		-	ENST00000408042.1	Missense_Mutation	SNP	20 : 16348282 - 16348282 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	133	30
HPSE2	60495	broad.mit.edu	37	10	100503711	100503711	+	Missense_Mutation	SNP	C	C	T	rs138827531		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100503711C>T	ENST00000370552.3	-	4	772	c.713G>A	c.(712-714)aGt>aAt	p.S238N	HPSE2_ENST00000370549.1_Intron|HPSE2_ENST00000404542.1_Intron|HPSE2_ENST00000370546.1_Missense_Mutation_p.S238N	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	238					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GGCACTAGAACTGTTCCAGGA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,ASN/SER,ASN/SER	0,4406		0,0,2203	135	128	131		,,713,713	5.7	1	10	dbSNP_134	131	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,missense,missense	HPSE2	NM_001166244.1,NM_001166245.1,NM_001166246.1,NM_021828.4	,,46,46	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,,possibly-damaging,possibly-damaging	,,238/549,238/593	100503711	1,13005	2203	4300	6503	SO:0001583	missense			AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987	60495	60495			18374	protein-coding gene	gene with protein product		613469	urofacial syndrome, heparanase 2	UFS	NA	11027606, 20605132, 9199567, 20576607	Standard	NM_021828	NM_021828	NA	Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.713G>A	10.37:g.100503711C>T	ENSP00000359583:p.Ser238Asn	NA	Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	37	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.314871	0.60524	0.0	1.16E-4	ENSG00000172987	ENST00000370552;ENST00000370546	T;T	0.32988	1.43;1.43	5.68	5.68	0.88126	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.050078	0.85682	D	0.000000	T	0.32102	0.0818	L	0.38175	1.15	0.80722	D	1	P;P	0.37914	0.557;0.611	B;B	0.40165	0.215;0.321	T	0.01715	-1.1289	10	0.35671	T	0.21	-10.7404	20.1554	0.98111	0.0:1.0:0.0:0.0	.	238;238	Q8WWQ2-2;Q8WWQ2	.;HPSE2_HUMAN	N	238	ENSP00000359583:S238N;ENSP00000359577:S238N	ENSP00000359577:S238N	S	-	2	0	HPSE2	100493701	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.894000	0.69806	2.838000	0.97847	0.591000	0.81541	AGT	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049789.1		-	ENST00000370552.3	Missense_Mutation	SNP	10 : 100503711 - 100503711 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	489	108
ACTL9	284382	broad.mit.edu	37	19	8808354	8808354	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8808354G>A	ENST00000324436.3	-	1	818	c.698C>T	c.(697-699)gCg>gTg	p.A233V		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	233						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CAGCATCTCCGCCAGGAAGGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								T	VAL/ALA	0,4406		0,0,2203	37	37	37		698	2.4	0.6	19		37	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACTL9	NM_178525.3	64	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	233/417	8808354	1,13005	2203	4300	6503	SO:0001583	missense				CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786	284382	284382			28494	protein-coding gene	gene with protein product					NA		Standard	NM_178525	NM_178525	NA	Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.698C>T	19.37:g.8808354G>A	ENSP00000316674:p.Ala233Val	NA	A8K893|Q6X960	37	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	g	9.926	1.213504	0.22289	0.0	1.16E-4	ENSG00000181786	ENST00000324436	T	0.08282	3.11	4.55	2.42	0.29668	.	0.160511	0.29126	N	0.013065	T	0.06096	0.0158	L	0.33624	1.015	0.25170	N	0.990285	B	0.24721	0.11	B	0.24269	0.052	T	0.29549	-1.0008	10	0.72032	D	0.01	.	4.2869	0.10858	0.1871:0.0:0.6302:0.1827	.	233	Q8TC94	ACTL9_HUMAN	V	233	ENSP00000316674:A233V	ENSP00000316674:A233V	A	-	2	0	ACTL9	8669354	0.988000	0.35896	0.619000	0.29118	0.075000	0.17131	3.158000	0.50723	0.676000	0.31285	-0.358000	0.07595	GCG	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459953.1		-	ENST00000324436.3	Missense_Mutation	SNP	19 : 8808354 - 8808354 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	307	67
ZNF835	90485	broad.mit.edu	37	19	57175214	57175214	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57175214G>A	ENST00000537055.2	-	2	1584	c.1353C>T	c.(1351-1353)tgC>tgT	p.C451C		NM_001005850.2	NP_001005850.2			zinc finger protein 835	NA										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AGGCCTTGCCGCACTCGGGGC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	63	61			NA	NA	19		NA											NA				57175214		2201	4300	6501	SO:0001819	synonymous_variant			AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903	90485	90485		Zinc fingers, C2H2-type	34332	protein-coding gene	gene with protein product					NA		Standard	NM_001005850	NM_001005850	NA	Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.1353C>T	19.37:g.57175214G>A		NA		37	CCDS56105.1																																																																																			ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459800.1		-	ENST00000537055.2	Silent	SNP	19 : 57175214 - 57175214 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	665	132
PAQR7	164091	broad.mit.edu	37	1	26189357	26189357	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26189357C>T	ENST00000374296.3	-	2	1640	c.974G>A	c.(973-975)aGc>aAc	p.S325N	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	325					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGATGCTGCTGCCCACCGT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(111;1206 1556 18433 19151 38418)							NA				0													81	82	82			NA	NA	1		NA											NA				26189357		2203	4300	6503	SO:0001583	missense				CCDS267.1	1p35.3	2012-08-10			ENSG00000182749	ENSG00000182749	164091	164091			23146	protein-coding gene	gene with protein product	membrane progestin receptor alpha	607779			NA		Standard	NM_178422	NM_178422	NA	Approved	mSR, MPRA	uc001bkx.3	Q86WK9	OTTHUMG00000007373	ENST00000374296.3:c.974G>A	1.37:g.26189357C>T	ENSP00000363414:p.Ser325Asn	NA	A2A2D3|Q5XKF9|Q86VE4	37	CCDS267.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.155044	0.38021	.	.	ENSG00000182749	ENST00000374296	T	0.22743	1.94	4.81	4.81	0.61882	.	0.057108	0.64402	D	0.000001	T	0.15003	0.0362	N	0.22421	0.69	0.45378	D	0.998368	P	0.44521	0.837	B	0.38106	0.265	T	0.04400	-1.0954	10	0.33141	T	0.24	-17.3312	15.8292	0.78739	0.0:1.0:0.0:0.0	.	325	Q86WK9	MPRA_HUMAN	N	325	ENSP00000363414:S325N	ENSP00000363414:S325N	S	-	2	0	PAQR7	26061944	1.000000	0.71417	1.000000	0.80357	0.134000	0.20937	6.976000	0.76135	2.479000	0.83701	0.563000	0.77884	AGC	PAQR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019312.1		-	ENST00000374296.3	Missense_Mutation	SNP	1 : 26189357 - 26189357 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	457	95
WDR24	84219	broad.mit.edu	37	16	737187	737187	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:737187G>A	ENST00000293883.4	-	3	1648	c.889C>T	c.(889-891)Cga>Tga	p.R297*	WDR24_ENST00000248142.6_Nonsense_Mutation_p.R427*	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN	WD repeat domain 24	427										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				GTGACGTCTCGGTGTTCCTCA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	52	50			NA	NA	16		NA											NA				737187		2199	4300	6499	SO:0001587	stop_gained			AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580	84219	84219		WD repeat domain containing	20852	protein-coding gene	gene with protein product			chromosome 16 open reading frame 21	C16orf21	NA	11230166	Standard	NM_032259	NM_032259	NA	Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000293883.4:c.889C>T	16.37:g.737187G>A	ENSP00000293883:p.Arg297*	NA	A2IDB8|D3DU59|Q96GC7|Q9H0B7	37	CCDS10420.1	.	.	.	.	.	.	.	.	.	.	G	41	8.683699	0.98914	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	.	.	.	4.55	4.55	0.56014	.	0.067073	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-16.6398	10.3454	0.43903	0.0:0.0:0.7036:0.2964	.	.	.	.	X	427;297	.	ENSP00000248142:R427X	R	-	1	2	WDR24	677188	1.000000	0.71417	0.993000	0.49108	0.424000	0.31475	6.039000	0.70972	2.513000	0.84729	0.655000	0.94253	CGA	WDR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206852.1		-	ENST00000293883.4	Nonsense_Mutation	SNP	16 : 737187 - 737187 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	370	61
SLC34A2	10568	broad.mit.edu	37	4	25671453	25671453	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25671453C>T	ENST00000382051.3	+	7	870	c.820C>T	c.(820-822)Ctc>Ttc	p.L274F	SLC34A2_ENST00000504570.1_Missense_Mutation_p.L273F|SLC34A2_ENST00000503434.1_Missense_Mutation_p.L273F	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	274					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CTTCACAAAGCTCATTGTCCA	0.463		NA	T	ROS1	NSCLC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		4	4p15.2	10568	solute carrier family 34 (sodium phosphate), member 2		E	0													136	135	135			NA	NA	4		NA											NA				25671453		2203	4300	6503	SO:0001583	missense			AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765	10568	10568		Solute carriers	11020	protein-coding gene	gene with protein product		604217	solute carrier family 34 (sodium phosphate), member 2		NA	10329428, 10610722	Standard	NM_006424	NM_006424	NA	Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.820C>T	4.37:g.25671453C>T	ENSP00000371483:p.Leu274Phe	NA	A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	37	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.592077	0.66219	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	T;T;T	0.26660	1.73;1.72;1.73	5.39	4.53	0.55603	.	0.470827	0.24917	N	0.034573	T	0.48768	0.1518	M	0.85710	2.77	0.39028	D	0.95987	P;B	0.51791	0.948;0.086	P;B	0.56823	0.807;0.036	T	0.55724	-0.8096	10	0.30854	T	0.27	-30.4741	14.7178	0.69284	0.0:0.7251:0.2749:0.0	.	273;274	O95436-2;O95436	.;NPT2B_HUMAN	F	273;274;273	ENSP00000425501:L273F;ENSP00000371483:L274F;ENSP00000423021:L273F	ENSP00000371483:L274F	L	+	1	0	SLC34A2	25280551	1.000000	0.71417	0.956000	0.39512	0.953000	0.61014	1.867000	0.39499	1.372000	0.46190	0.561000	0.74099	CTC	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214990.1		+	ENST00000382051.3	Missense_Mutation	SNP	4 : 25671453 - 25671453 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	761	134
CNTNAP4	85445	broad.mit.edu	37	16	76592577	76592577	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:76592577C>T	ENST00000476707.1	+	23	4072	c.3933C>T	c.(3931-3933)ttC>ttT	p.F1311F	CNTNAP4_ENST00000478060.1_Silent_p.F1235F|CNTNAP4_ENST00000377504.4_Silent_p.F1259F|RP11-58C22.1_ENST00000563764.1_Intron|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Silent_p.F1307F			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1308					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AGTACTTCTTCTGATTGGCAG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	44	44			NA	NA	16		NA											NA				76592577		1851	4102	5953	SO:0001819	synonymous_variant			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910	85445	85445			18747	protein-coding gene	gene with protein product		610518			NA	12093160	Standard	NM_033401	NM_033401	NA	Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.3933C>T	16.37:g.76592577C>T		NA		37																																																																																				CNTNAP4-005	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000348216.1		+	ENST00000476707.1	Silent	SNP	16 : 76592577 - 76592577 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	154	29
NNT	23530	broad.mit.edu	37	5	43609350	43609350	+	Missense_Mutation	SNP	G	G	A	rs12653648		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43609350G>A	ENST00000264663.5	+	2	274	c.53G>A	c.(52-54)aGc>aAc	p.S18N	NNT_ENST00000344920.4_Missense_Mutation_p.S18N|NNT_ENST00000512996.2_Intron	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	18					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	CCTCTACTTAGCAATTTGGGG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	137	135			NA	NA	5		NA											NA				43609350		2203	4300	6503	SO:0001583	missense			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	23530	23530	1.6.1.1		7863	protein-coding gene	gene with protein product		607878			NA	9271681, 9524818	Standard	NM_182977	NM_182977	NA	Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.53G>A	5.37:g.43609350G>A	ENSP00000264663:p.Ser18Asn	NA	Q16796|Q2TB60|Q8N3V4	37	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.018041	0.35606	.	.	ENSG00000112992	ENST00000505678;ENST00000512422;ENST00000264663;ENST00000344920	D;D;D;D	0.95788	-1.82;-1.83;-3.81;-3.81	5.72	2.2	0.27929	.	0.357997	0.37261	N	0.002169	D	0.88507	0.6455	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.79857	-0.1626	10	0.33940	T	0.23	-6.4642	5.563	0.17154	0.1469:0.106:0.6264:0.1207	rs12653648	18	Q13423	NNTM_HUMAN	N	18	ENSP00000427670:S18N;ENSP00000421886:S18N;ENSP00000264663:S18N;ENSP00000343873:S18N	ENSP00000264663:S18N	S	+	2	0	NNT	43645107	0.997000	0.39634	0.916000	0.36221	0.503000	0.33858	0.857000	0.27831	0.593000	0.29745	0.563000	0.77884	AGC	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214026.1		+	ENST00000264663.5	Missense_Mutation	SNP	5 : 43609350 - 43609350 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	314	40
TMEM67	91147	broad.mit.edu	37	8	94800075	94800075	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:94800075C>T	ENST00000453321.3	+	14	1474	c.1416C>T	c.(1414-1416)gtC>gtT	p.V472V	TMEM67_ENST00000409623.3_Silent_p.V391V	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	472					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TAAATAGTGTCCACCTTGTAC	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	145	148			NA	NA	8		NA											NA				94800075		2203	4300	6503	SO:0001819	synonymous_variant			BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953	91147	91147			28396	protein-coding gene	gene with protein product	Meckelin	609884	Meckel syndrome, type 3	MKS3	NA	12384791, 16415887, 19508969	Standard	NM_153704	NM_153704	NA	Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.1416C>T	8.37:g.94800075C>T		NA	B3KT47|Q3ZCX3|Q7Z5T8|Q8IZ06	37	CCDS6258.2	.	.	.	.	.	.	.	.	.	.	C	0.834	-0.744151	0.03088	.	.	ENSG00000164953	ENST00000520680	.	.	.	5.59	3.39	0.38822	.	.	.	.	.	T	0.54902	0.1887	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51036	-0.8756	4	.	.	.	-9.2279	6.1893	0.20516	0.1666:0.6377:0.0:0.1957	.	.	.	.	S	80	.	.	P	+	1	0	TMEM67	94869251	0.767000	0.28508	0.964000	0.40570	0.236000	0.25371	1.234000	0.32660	1.305000	0.44909	0.557000	0.71058	CCA	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329641.2		+	ENST00000453321.3	Silent	SNP	8 : 94800075 - 94800075 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	563	81
HDAC7	51564	broad.mit.edu	37	12	48188688	48188688	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48188688C>T	ENST00000080059.7	-	12	1312	c.1313G>A	c.(1312-1314)cGg>cAg	p.R438Q	HDAC7_ENST00000380610.4_Missense_Mutation_p.R455Q|HDAC7_ENST00000427332.2_Missense_Mutation_p.R399Q|HDAC7_ENST00000552960.1_Missense_Mutation_p.R421Q|HDAC7_ENST00000354334.3_Missense_Mutation_p.R401Q	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	399	Transcription repression 2 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CTGCCGCAGCCGGGGCTTCTC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	58	55			NA	NA	12		NA											NA				48188688		2202	4299	6501	SO:0001583	missense			AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273	51564	51564			14067	protein-coding gene	gene with protein product		606542	histone deacetylase 7A	HDAC7A	NA	10922406, 10640276	Standard		NM_015401	NA	Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000080059.7:c.1313G>A	12.37:g.48188688C>T	ENSP00000080059:p.Arg438Gln	NA	B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	37	CCDS8756.2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397265	0.83120	.	.	ENSG00000061273	ENST00000080059;ENST00000354334;ENST00000552960;ENST00000380610;ENST00000427332	T;T;T;T;T	0.58506	0.42;0.33;0.43;0.4;0.44	4.5	3.57	0.40892	.	0.664644	0.13526	N	0.381323	T	0.71056	0.3295	L	0.55481	1.735	0.48341	D	0.999639	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.70156	-0.4949	10	0.62326	D	0.03	.	12.8923	0.58078	0.1646:0.8354:0.0:0.0	.	438;421;401	Q8WUI4-5;Q8WUI4-6;Q8WUI4-7	.;.;.	Q	438;401;421;455;399	ENSP00000080059:R438Q;ENSP00000351326:R401Q;ENSP00000448532:R421Q;ENSP00000369984:R455Q;ENSP00000404394:R399Q	ENSP00000080059:R438Q	R	-	2	0	HDAC7	46474955	0.996000	0.38824	0.995000	0.50966	0.970000	0.65996	3.544000	0.53640	1.122000	0.41944	0.563000	0.77884	CGG	HDAC7-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328792.1		-	ENST00000080059.7	Missense_Mutation	SNP	12 : 48188688 - 48188688 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	745	17
KNCN	148930	broad.mit.edu	37	1	47016857	47016857	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47016857G>A	ENST00000481882.2	-	1	342	c.31C>T	c.(31-33)Cgc>Tgc	p.R11C	MKNK1-AS1_ENST00000602433.1_RNA|KNCN_ENST00000396314.3_Missense_Mutation_p.R11C			A6PVL3	KNCN_HUMAN	kinocilin	11						integral to membrane				central_nervous_system(1)|endometrium(1)|lung(1)|ovary(1)	4	Acute lymphoblastic leukemia(166;0.155)					TGCAGGCCGCGGAAGTCTCTG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	51	48			NA	NA	1		NA											NA				47016857		2056	4192	6248	SO:0001583	missense			AK056573	CCDS44133.1	1p33	2014-02-12	2006-10-26		ENSG00000162456	ENSG00000162456	148930	148930			26488	protein-coding gene	gene with protein product		611455			NA	15855039	Standard	NM_182516	NM_001097611	NA	Approved	FLJ32011, KINO, L5	uc001cpy.2	A6PVL3	OTTHUMG00000007987	ENST00000481882.2:c.31C>T	1.37:g.47016857G>A	ENSP00000419705:p.Arg11Cys	NA	A8MXE3	37		.	.	.	.	.	.	.	.	.	.	G	11.79	1.745108	0.30955	.	.	ENSG00000162456	ENST00000481882;ENST00000396314	T	0.70282	-0.47	5.39	4.48	0.54585	.	.	.	.	.	T	0.62282	0.2415	.	.	.	0.37725	D	0.925069	B	0.13145	0.007	B	0.10450	0.005	T	0.63804	-0.6554	8	0.87932	D	0	-4.4966	10.1114	0.42565	0.0926:0.0:0.9074:0.0	.	11	A6PVL3-2	.	C	11	ENSP00000419705:R11C	ENSP00000379607:R11C	R	-	1	0	KNCN	46789444	1.000000	0.71417	0.998000	0.56505	0.072000	0.16883	3.772000	0.55325	1.278000	0.44430	-0.140000	0.14226	CGC	KNCN-002	KNOWN	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000316334.2		-	ENST00000481882.2	Missense_Mutation	SNP	1 : 47016857 - 47016857 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	542	64
MAN2A1	4124	broad.mit.edu	37	5	109191007	109191007	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:109191007T>C	ENST00000261483.4	+	20	4195	c.3143T>C	c.(3142-3144)cTg>cCg	p.L1048P	MAN2A1_ENST00000505313.1_3'UTR	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1048					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GACATTCATCTGGTTAATTTG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	106	112			NA	NA	5		NA											NA				109191007		2202	4300	6502	SO:0001583	missense				CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	4124	4124	3.2.1.114		6824	protein-coding gene	gene with protein product	golgi integral membrane protein 7	154582		MANA2	NA	1757461, 15004235	Standard		NM_002372	NA	Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.3143T>C	5.37:g.109191007T>C	ENSP00000261483:p.Leu1048Pro	NA	Q16767	37	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.306901	0.81247	.	.	ENSG00000112893	ENST00000261483	D	0.87334	-2.24	6.03	6.03	0.97812	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.074033	0.56097	D	0.000028	D	0.94503	0.8230	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.95268	0.8375	10	0.87932	D	0	-11.097	16.5582	0.84512	0.0:0.0:0.0:1.0	.	1048	Q16706	MA2A1_HUMAN	P	1048	ENSP00000261483:L1048P	ENSP00000261483:L1048P	L	+	2	0	MAN2A1	109218906	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	6.560000	0.73950	2.308000	0.77769	0.533000	0.62120	CTG	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370680.1		+	ENST00000261483.4	Missense_Mutation	SNP	5 : 109191007 - 109191007 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	257	51
CFB	629	broad.mit.edu	37	6	31895572	31895572	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31895572C>A	ENST00000456570.1	+	1	98	c.43C>A	c.(43-45)Cca>Aca	p.P15T	C2_ENST00000452323.2_Intron|CFB_ENST00000477310.1_Missense_Mutation_p.P15T|C2_ENST00000442278.2_Missense_Mutation_p.P15T|CFB_ENST00000556679.1_Missense_Mutation_p.P15T|C2_ENST00000469372.1_Intron|C2_ENST00000299367.5_Missense_Mutation_p.P15T|C2_ENST00000418949.2_Missense_Mutation_p.P15T			P00751	CFAB_HUMAN	complement factor B	0					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GTTCCTGTACCCAGGTAGGAG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													199	231	219			NA	NA	6		NA											NA				31895572		1511	2709	4220	SO:0001583	missense			L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	629	629	3.4.21.47	Complement system	1037	protein-coding gene	gene with protein product		138470	B-factor, properdin	BFD, BF	NA		Standard	NM_001710	NM_001710	NA	Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000456570.1:c.43C>A	6.37:g.31895572C>A	ENSP00000410815:p.Pro15Thr	NA	B0QZQ6|O15006|Q29944|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	37		.	.	.	.	.	.	.	.	.	.	C	16.25	3.069252	0.55539	.	.	ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000413154;ENST00000299367;ENST00000442278;ENST00000447952;ENST00000418949;ENST00000556679;ENST00000456570;ENST00000477310	T;T;D;T;T;D;D;D	0.87103	1.47;-1.43;-2.21;1.29;1.3;-1.57;-1.57;-1.55	5.75	2.86	0.33363	.	0.403728	0.18365	N	0.143459	T	0.49983	0.1589	.	.	.	0.80722	D	1	B;B;B;B;B	0.27853	0.0;0.001;0.001;0.0;0.191	B;B;B;B;B	0.29267	0.001;0.002;0.002;0.002;0.1	T	0.54302	-0.8314	9	0.02654	T	1	-0.4943	5.4073	0.16328	0.1386:0.6258:0.1515:0.0841	.	15;15;15;15;15	B4E1Z4;E9PFN7;B4DV20;P06681;Q8N6L6	.;.;.;CO2_HUMAN;.	T	15	ENSP00000403325:P15T;ENSP00000299367:P15T;ENSP00000395683:P15T;ENSP00000391354:P15T;ENSP00000406190:P15T;ENSP00000451848:P15T;ENSP00000410815:P15T;ENSP00000418996:P15T	ENSP00000299367:P15T	P	+	1	0	CFB;C2;XXbac-BPG116M5.17	32003551	0.474000	0.25886	0.999000	0.59377	0.723000	0.41478	0.451000	0.21779	0.804000	0.34136	-0.122000	0.15005	CCA	CFB-001	NOVEL	basic|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000356427.1		+	ENST00000456570.1	Missense_Mutation	SNP	6 : 31895572 - 31895572 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1456	232
CDH23	64072	broad.mit.edu	37	10	73500672	73500672	+	Missense_Mutation	SNP	G	G	A	rs149752120	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73500672G>A	ENST00000224721.6	+	36	4602	c.4597G>A	c.(4597-4599)Gag>Aag	p.E1533K		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1528	Cadherin 15.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCCAGTCATCGAGAGCCCCTT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	LYS/GLU	0,4074		0,0,2037	83	88	86		4582	4.9	1	10	dbSNP_134	86	2,8376		0,2,4187	yes	missense	CDH23	NM_022124.5	56	0,2,6224	AA,AG,GG	NA	0.0239,0.0,0.0161	possibly-damaging	1528/3355	73500672	2,12450	2037	4189	6226	SO:0001583	missense			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736	64072	64072		Cadherins / Cadherin-related	13733	protein-coding gene	gene with protein product	cadherin-related family member 23	605516	cadherin related 23, cadherin-like 23	DFNB12, USH1D	NA	11090341	Standard	NM_052836	NM_022124	NA	Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.4597G>A	10.37:g.73500672G>A	ENSP00000224721:p.Glu1533Lys	NA	C4IXS9|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	37		.	.	.	.	.	.	.	.	.	.	G	18.86	3.713318	0.68730	0.0	2.39E-4	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398792	.	.	.	4.9	4.9	0.64082	Cadherin (1);Cadherin-like (1);	0.227974	0.36066	N	0.002816	T	0.45617	0.1351	L	0.48218	1.51	0.80722	D	1	B;P	0.39601	0.222;0.68	B;B	0.28139	0.053;0.086	T	0.47262	-0.9131	9	0.11182	T	0.66	.	18.4524	0.90709	0.0:0.0:1.0:0.0	.	348;1528	E7ERT0;Q9H251	.;CAD23_HUMAN	K	1533;1528;1531;348	.	ENSP00000224721:E1533K	E	+	1	0	CDH23	73170678	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.317000	0.65822	2.425000	0.82216	0.591000	0.81541	GAG	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000051227.4		+	ENST00000224721.6	Missense_Mutation	SNP	10 : 73500672 - 73500672 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	562	111
C1orf116	79098	broad.mit.edu	37	1	207198256	207198256	+	Missense_Mutation	SNP	G	G	A	rs706846		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207198256G>A	ENST00000461135.2	-	0	331				C1orf116_ENST00000359470.5_Missense_Mutation_p.P87S	NM_001083924.1	NP_001077393.1	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	NA						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					TGGGTTATGGGCAGTGCTCGG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	99	97			NA	NA	1		NA											NA				207198256		2203	4300	6503	SO:0001623	5_prime_UTR_variant				CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795	79098	79098			28667	protein-coding gene	gene with protein product	specifically androgen-regulated gene	611680			NA	15525603, 9389513	Standard	NM_024115	NM_023938	NA	Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000461135.2:c.-480C>T	1.37:g.207198256G>A		NA	C9JV41|Q658X3	37	CCDS44306.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.798076	0.50208	.	.	ENSG00000182795	ENST00000359470	T	0.19532	2.14	4.39	3.44	0.39384	.	0.353687	0.27495	N	0.019120	T	0.31451	0.0797	M	0.63843	1.955	0.38128	D	0.938075	D	0.53462	0.96	P	0.52217	0.693	T	0.17018	-1.0383	10	0.32370	T	0.25	-11.1548	12.6221	0.56610	0.0:0.0:0.8266:0.1734	rs706846;rs1770381;rs706846	87	Q9BW04	SARG_HUMAN	S	87	ENSP00000352447:P87S	ENSP00000352447:P87S	P	-	1	0	C1orf116	205264879	0.809000	0.29036	0.008000	0.14137	0.038000	0.13279	2.613000	0.46351	1.084000	0.41184	0.655000	0.94253	CCC	C1orf116-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382045.1		-	ENST00000461135.2	5'UTR	SNP	1 : 207198256 - 207198256 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	113
FASN	2194	broad.mit.edu	37	17	80038697	80038697	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80038697G>A	ENST00000306749.2	-	39	6915	c.6697C>T	c.(6697-6699)Cgg>Tgg	p.R2233W	FASN_ENST00000579758.1_Intron	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2233	Thioesterase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GAGTTGAGCCGCATCAGGGTG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(59;314 1043 11189 28578 32273)							NA				0													28	33	31			NA	NA	17		NA											NA				80038697		2197	4293	6490	SO:0001583	missense			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2194	2194	2.3.1.85	Short chain dehydrogenase/reductase superfamily / Atypical members	3594	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 27X, member 1	600212			NA	7835891, 7567999, 19027726	Standard	NM_004104	NM_004104	NA	Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.6697C>T	17.37:g.80038697G>A	ENSP00000304592:p.Arg2233Trp	NA	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	37	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.798163	0.50208	.	.	ENSG00000169710	ENST00000306749	T	0.28666	1.6	4.8	2.71	0.32032	.	0.483859	0.20406	N	0.092959	T	0.24509	0.0594	N	0.08118	0	0.09310	N	1	D	0.89917	1.0	P	0.52343	0.696	T	0.12192	-1.0557	10	0.72032	D	0.01	-30.9607	11.7206	0.51680	0.0:0.0:0.5351:0.4649	.	2233	P49327	FAS_HUMAN	W	2233	ENSP00000304592:R2233W	ENSP00000304592:R2233W	R	-	1	2	FASN	77631986	0.160000	0.22878	0.011000	0.14972	0.381000	0.30169	2.858000	0.48356	0.565000	0.29255	0.591000	0.81541	CGG	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442369.1		-	ENST00000306749.2	Missense_Mutation	SNP	17 : 80038697 - 80038697 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	99	18
CDYL2	124359	broad.mit.edu	37	16	80718807	80718807	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:80718807G>A	ENST00000570137.2	-	2	399	c.244C>T	c.(244-246)Cga>Tga	p.R82*	CDYL2_ENST00000562812.1_Nonsense_Mutation_p.R82*|CDYL2_ENST00000563890.1_Nonsense_Mutation_p.R82*|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000566173.1_Nonsense_Mutation_p.R82*	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	NA						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GACGGGCCTCGACTGTCACGC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	94	100			NA	NA	16		NA											NA				80718807		2203	4300	6503	SO:0001587	stop_gained			AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446	124359	124359			23030	protein-coding gene	gene with protein product			chromodomain Y-like protein 2		NA	12837688	Standard	NM_152342	NM_152342	NA	Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.244C>T	16.37:g.80718807G>A	ENSP00000476295:p.Arg82*	NA	Q7Z5I8	37	CCDS32493.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819058	0.50633	.	.	ENSG00000166446	ENST00000299564	.	.	.	5.23	4.27	0.50696	.	0.259870	0.33235	N	0.005121	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7971	0.57565	0.0:0.0:0.8366:0.1634	.	.	.	.	X	82	.	ENSP00000299564:R82X	R	-	1	2	CDYL2	79276308	1.000000	0.71417	0.231000	0.23993	0.080000	0.17528	2.062000	0.41413	1.407000	0.46875	0.655000	0.94253	CGA	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434727.2		-	ENST00000570137.2	Nonsense_Mutation	SNP	16 : 80718807 - 80718807 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	80
NT5DC3	51559	broad.mit.edu	37	12	104179235	104179235	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104179235C>A	ENST00000392876.3	-	12	1247	c.1207G>T	c.(1207-1209)Ggc>Tgc	p.G403C		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	403							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						GTCCTCCAGCCATGCTTTAGG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	136	146			NA	NA	12		NA											NA				104179235		2203	4300	6503	SO:0001583	missense			AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696	51559	51559			30826	protein-coding gene	gene with protein product		611076			NA		Standard	NM_016575	NM_001031701	NA	Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.1207G>T	12.37:g.104179235C>A	ENSP00000376615:p.Gly403Cys	NA	Q9NUM7|Q9P2T2|Q9P2T3	37	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831137	0.91036	.	.	ENSG00000111696	ENST00000392876	T	0.28666	1.6	5.46	5.46	0.80206	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.68860	0.3047	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78588	-0.2146	9	.	.	.	-28.532	19.3059	0.94163	0.0:1.0:0.0:0.0	.	403	Q86UY8	NT5D3_HUMAN	C	403	ENSP00000376615:G403C	.	G	-	1	0	NT5DC3	102703365	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.772000	0.85439	2.559000	0.86315	0.655000	0.94253	GGC	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347118.2		-	ENST00000392876.3	Missense_Mutation	SNP	12 : 104179235 - 104179235 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	505	86
NUP160	23279	broad.mit.edu	37	11	47858498	47858498	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47858498G>A	ENST00000378460.2	-	6	929	c.883C>T	c.(883-885)Cat>Tat	p.H295Y	NUP160_ENST00000528071.1_Missense_Mutation_p.H181Y|NUP160_ENST00000532747.1_3'UTR|NUP160_ENST00000530326.1_Missense_Mutation_p.H181Y	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	295					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						AAGGCATCATGCTCCACACAA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	153	161			NA	NA	11		NA											NA				47858498		2201	4298	6499	SO:0001583	missense			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066	23279	23279			18017	protein-coding gene	gene with protein product		607614	nucleoporin 160kD		NA	11684705	Standard	NM_015231	NM_015231	NA	Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.883C>T	11.37:g.47858498G>A	ENSP00000367721:p.His295Tyr	NA	B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	37	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626640	0.66901	.	.	ENSG00000030066	ENST00000378460;ENST00000426372;ENST00000530326;ENST00000528071	T;T;T	0.42900	0.96;0.96;0.96	5.5	3.61	0.41365	.	0.240232	0.43260	D	0.000584	T	0.44993	0.1320	L	0.60455	1.87	0.80722	D	1	P	0.45240	0.854	P	0.47626	0.552	T	0.28106	-1.0054	10	0.13108	T	0.6	.	14.7893	0.69827	0.0:0.0:0.7366:0.2633	.	295	Q12769	NU160_HUMAN	Y	295;45;181;181	ENSP00000367721:H295Y;ENSP00000433590:H181Y;ENSP00000432367:H181Y	ENSP00000367721:H295Y	H	-	1	0	NUP160	47815074	1.000000	0.71417	0.972000	0.41901	0.997000	0.91878	4.345000	0.59360	0.667000	0.31107	0.655000	0.94253	CAT	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390239.2		-	ENST00000378460.2	Missense_Mutation	SNP	11 : 47858498 - 47858498 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	71
KIAA1430	0	broad.mit.edu	37	4	186084022	186084022	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186084022G>A	ENST00000458385.2	-	5	1648	c.1529C>T	c.(1528-1530)gCg>gTg	p.A510V		NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		510										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		GGGGTCAACCGCTGATCGCTC	0.438		NA											G	1	5e-04	NA	0.0028	2184	NA	0.9995	,	,	NA	3e-04	NA	NA	NA	7e-04	0.6428	LOWCOV,EXOME	NA	NA	0.0011	SNP								NA				0													49	54	52			NA	NA	4		NA											NA				186084022		1931	4138	6069	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000458385.2:c.1529C>T	4.37:g.186084022G>A	ENSP00000409964:p.Ala510Val	NA	B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	37	CCDS47168.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	5.214	0.224956	0.09916	.	.	ENSG00000164323	ENST00000458385	T	0.28666	1.6	4.7	-5.24	0.02789	.	.	.	.	.	T	0.10208	0.0250	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33979	-0.9847	9	0.15066	T	0.55	0.3863	5.5487	0.17079	0.398:0.2639:0.3381:0.0	.	510	Q9P2B7	K1430_HUMAN	V	510	ENSP00000409964:A510V	ENSP00000409964:A510V	A	-	2	0	KIAA1430	186321016	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.268000	0.08607	-1.005000	0.03417	-0.355000	0.07637	GCG	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360717.2		-	ENST00000458385.2	Missense_Mutation	SNP	4 : 186084022 - 186084022 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	113	14
TNR	7143	broad.mit.edu	37	1	175304878	175304878	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175304878G>A	ENST00000367674.2	-	20	4308	c.3600C>T	c.(3598-3600)ggC>ggT	p.G1200G	TNR_ENST00000263525.2_Silent_p.G1200G			Q92752	TENR_HUMAN	tenascin R	NA	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CGTTCCCGAAGCCAACACGGT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	168	168			NA	NA	1		NA											NA				175304878		2203	4300	6503	SO:0001819	synonymous_variant			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147	7143	7143		Fibrinogen C domain containing, Fibronectin type III domain containing	11953	protein-coding gene	gene with protein product	restrictin, janusin	601995			NA	8626505, 8940128	Standard	NM_003285	NM_003285	NA	Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3600C>T	1.37:g.175304878G>A		NA	C9J563|Q15568|Q5R3G0	37	CCDS1318.1																																																																																			TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084414.4		-	ENST00000367674.2	Silent	SNP	1 : 175304878 - 175304878 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	820	124
ZEB2	9839	broad.mit.edu	37	2	145155993	145155993	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:145155993G>A	ENST00000558170.2	-	8	3945	c.2761C>T	c.(2761-2763)Cga>Tga	p.R921*	ZEB2_ENST00000409487.3_Nonsense_Mutation_p.R921*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.R897*|ZEB2_ENST00000303660.4_Nonsense_Mutation_p.R921*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	921						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GGGTATGGTCGTAGCCCAGGA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(33;1235 1264 5755 16332)							NA				0			GRCh37	CM052018	ZEB2	M							164	160	161			NA	NA	2		NA											NA				145155993		2203	4300	6503	SO:0001587	stop_gained			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554	9839	9839		Zinc fingers, C2H2-type, Homeoboxes / ZF class	14881	protein-coding gene	gene with protein product	SMAD interacting protein 1	605802	zinc finger homeobox 1b	ZFHX1B	NA		Standard	NM_014795	NM_014795	NA	Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.2761C>T	2.37:g.145155993G>A	ENSP00000454157:p.Arg921*	NA	A0JP09|Q9UED1	37	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	39	7.517277	0.98332	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	.	.	.	5.83	4.91	0.64330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.6124	15.7551	0.78018	0.0:0.0:0.863:0.137	.	.	.	.	X	897;921;921	.	ENSP00000302501:R921X	R	-	1	2	ZEB2	144872463	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.499000	0.53310	2.763000	0.94921	0.563000	0.77884	CGA	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254778.5		-	ENST00000558170.2	Nonsense_Mutation	SNP	2 : 145155993 - 145155993 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	743	62
CELSR1	9620	broad.mit.edu	37	22	46859644	46859644	+	Silent	SNP	G	G	A	rs150510873		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46859644G>A	ENST00000262738.3	-	2	4142	c.4143C>T	c.(4141-4143)cgC>cgT	p.R1381R	CELSR1_ENST00000395964.1_Silent_p.R1381R	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1381	EGF-like 2; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGCCGCCCTCGCGGCTGCGGC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	11	12			NA	NA	22		NA											NA				46859644		2095	4132	6227	SO:0001819	synonymous_variant			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275	9620	9620		Cadherins / Major cadherins, -, GPCR / Class B : Orphans	1850	protein-coding gene	gene with protein product	flamingo homolog 2 (Drosophila)	604523	cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog		NA	9339365	Standard	NM_014246	XM_006724383	NA	Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4143C>T	22.37:g.46859644G>A		NA	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	37	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	4.939	0.174509	0.09391	.	.	ENSG00000075275	ENST00000454637	.	.	.	4.22	-7.57	0.01318	.	.	.	.	.	T	0.33847	0.0877	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41016	-0.9532	4	.	.	.	.	0.9322	0.01338	0.373:0.1609:0.2912:0.1749	.	.	.	.	V	756	.	.	A	-	2	0	CELSR1	45238308	0.209000	0.23505	0.890000	0.34922	0.479000	0.33129	-0.551000	0.06027	-1.286000	0.02384	-2.815000	0.00110	GCG	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318037.1		-	ENST00000262738.3	Silent	SNP	22 : 46859644 - 46859644 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	122	20
CUZD1	50624	broad.mit.edu	37	10	124591924	124591924	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124591924G>T	ENST00000368904.1	-	11	2643	c.1694C>A	c.(1693-1695)cCt>cAt	p.P565H	CUZD1_ENST00000392790.1_Missense_Mutation_p.P565H|CUZD1_ENST00000545804.1_Missense_Mutation_p.P565H			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	565					cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		ACTGTTGAAAGGCTGGTTTGG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													188	157	168			NA	NA	10		NA											NA				124591924		2203	4300	6503	SO:0001583	missense			AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161	50624	50624			17937	protein-coding gene	gene with protein product					NA	10542259	Standard	NM_022034	NM_022034	NA	Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.1694C>A	10.37:g.124591924G>T	ENSP00000357900:p.Pro565His	NA	A8K080|B2RN93|D3DRE5|Q7Z660|Q7Z661|Q86SG1|Q86UP5|Q9HAR7	37	CCDS7631.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.892986	0.33442	.	.	ENSG00000138161	ENST00000368904;ENST00000368901;ENST00000368900;ENST00000338948;ENST00000368899;ENST00000545804;ENST00000392790	T;T;T	0.40225	1.04;1.04;1.04	5.2	5.2	0.72013	.	0.184780	0.36268	N	0.002682	T	0.55909	0.1950	M	0.64997	1.995	0.09310	N	0.99999	D	0.71674	0.998	P	0.61328	0.887	T	0.50980	-0.8763	10	0.45353	T	0.12	-19.8253	11.8476	0.52393	0.0:0.0:0.7809:0.2191	.	565	Q86UP6	CUZD1_HUMAN	H	565;284;284;199;284;565;565	ENSP00000357900:P565H;ENSP00000441590:P565H;ENSP00000376540:P565H	ENSP00000340905:P199H	P	-	2	0	CUZD1	124581914	0.521000	0.26258	0.078000	0.20375	0.148000	0.21650	2.828000	0.48120	2.564000	0.86499	0.655000	0.94253	CCT	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050829.2		-	ENST00000368904.1	Missense_Mutation	SNP	10 : 124591924 - 124591924 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	640	131
ITPR3	3710	broad.mit.edu	37	6	33652166	33652166	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33652166C>T	ENST00000374316.5	+	38	6030	c.4970C>T	c.(4969-4971)tCg>tTg	p.S1657L	ITPR3_ENST00000605930.1_Missense_Mutation_p.S1657L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1657					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CTCATGGAGTCGGAGGAGAAG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	54	53			NA	NA	6		NA											NA				33652166		2203	4300	6503	SO:0001583	missense			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433	3710	3710		Ion channels / Inositol triphosphate receptors	6182	protein-coding gene	gene with protein product		147267	inositol 1,4,5-triphosphate receptor, type 3		NA	8081734, 8288584	Standard	NM_002224	NM_002224	NA	Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.4970C>T	6.37:g.33652166C>T	ENSP00000363435:p.Ser1657Leu	NA	Q14649|Q5TAQ2	37	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392363	0.62066	.	.	ENSG00000096433	ENST00000374316	D	0.91894	-2.93	5.31	5.31	0.75309	.	0.273852	0.37437	N	0.002098	T	0.82245	0.4995	L	0.36672	1.1	0.39997	D	0.975114	B	0.31949	0.348	B	0.24541	0.054	D	0.84365	0.0540	10	0.56958	D	0.05	-11.7663	13.8974	0.63781	0.1523:0.8477:0.0:0.0	.	1657	Q14573	ITPR3_HUMAN	L	1657	ENSP00000363435:S1657L	ENSP00000363435:S1657L	S	+	2	0	ITPR3	33760144	0.961000	0.32948	0.967000	0.41034	0.985000	0.73830	3.599000	0.54045	2.475000	0.83589	0.650000	0.86243	TCG	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040204.2		+	ENST00000374316.5	Missense_Mutation	SNP	6 : 33652166 - 33652166 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	227	41
ENOX1	55068	broad.mit.edu	37	13	43986136	43986136	+	Missense_Mutation	SNP	C	C	T	rs146373261		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:43986136C>T	ENST00000261488.6	-	5	701	c.124G>A	c.(124-126)Gtg>Atg	p.V42M	ENOX1_ENST00000412891.1_Missense_Mutation_p.V42M	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	42					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GGATCTGTCACGGACATGTTG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	MET/VAL,MET/VAL,MET/VAL	2,4404	4.2+/-10.8	0,2,2201	140	119	126		124,124,124	4.8	1	13	dbSNP_134	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ENOX1	NM_001127615.1,NM_001242863.1,NM_017993.3	21,21,21	0,3,6500	TT,TC,CC	NA	0.0116,0.0454,0.0231	benign,benign,benign	42/644,42/644,42/644	43986136	3,13003	2203	4300	6503	SO:0001583	missense			EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658	55068	55068		RNA binding motif (RRM) containing	25474	protein-coding gene	gene with protein product		610914			NA	11360993	Standard	NM_017993	NM_001127615	NA	Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.124G>A	13.37:g.43986136C>T	ENSP00000261488:p.Val42Met	NA	A4GU15|A6NMH9|Q2TU81|Q5VT11|Q9NWE0	37	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251216	0.22880	4.54E-4	1.16E-4	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.48522	0.81;0.81	5.62	4.77	0.60923	.	0.065961	0.64402	D	0.000012	T	0.33614	0.0869	N	0.24115	0.695	0.80722	D	1	B	0.12630	0.006	B	0.06405	0.002	T	0.08554	-1.0716	10	0.23302	T	0.38	0.011	14.0448	0.64698	0.0:0.9273:0.0:0.0727	.	42	Q8TC92	ENOX1_HUMAN	M	42	ENSP00000261488:V42M;ENSP00000415054:V42M	ENSP00000261488:V42M	V	-	1	0	ENOX1	42884136	0.990000	0.36364	0.994000	0.49952	0.994000	0.84299	2.711000	0.47177	1.511000	0.48818	0.467000	0.42956	GTG	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044717.2		-	ENST00000261488.6	Missense_Mutation	SNP	13 : 43986136 - 43986136 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	63
HNF1A	6927	broad.mit.edu	37	12	121437184	121437184	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121437184A>G	ENST00000257555.6	+	8	1841	c.1615A>G	c.(1615-1617)Acc>Gcc	p.T539A	HNF1A_ENST00000544413.1_Missense_Mutation_p.T539A|HNF1A_ENST00000541395.1_Missense_Mutation_p.T539A			P20823	HNF1A_HUMAN	HNF1 homeobox A	539					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCTCACGCCCACCAAGCAGGT	0.682		NA							Hepatic Adenoma, Familial Clustering of					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	82	81			NA	NA	12		NA											NA				121437184		2203	4299	6502	SO:0001583	missense	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100	6927	6927		Homeoboxes / HNF class	11621	protein-coding gene	gene with protein product		142410	transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	MODY3, TCF1	NA	1535333, 7795649	Standard	NM_000545	NM_000545	NA	Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.1615A>G	12.37:g.121437184A>G	ENSP00000257555:p.Thr539Ala	NA	A5Z2R8|Q2M3H2|Q99861	37	CCDS9209.1	.	.	.	.	.	.	.	.	.	.	A	16.28	3.079208	0.55753	.	.	ENSG00000135100	ENST00000257555;ENST00000535125;ENST00000537424;ENST00000543027;ENST00000541395;ENST00000544413	D;D;D	0.97089	-4.24;-4.24;-4.24	5.52	5.52	0.82312	Hepatocyte nuclear factor 1, beta isoform, C-terminal (1);	0.099892	0.43110	D	0.000606	D	0.94328	0.8177	L	0.36672	1.1	0.80722	D	1	B;B	0.26002	0.114;0.139	B;B	0.24541	0.042;0.054	D	0.92434	0.5956	10	0.48119	T	0.1	-34.5381	14.8565	0.70341	1.0:0.0:0.0:0.0	.	539;539	F5H0K0;P20823	.;HNF1A_HUMAN	A	539;431;539;360;539;539	ENSP00000257555:T539A;ENSP00000443112:T539A;ENSP00000438804:T539A	ENSP00000257555:T539A	T	+	1	0	HNF1A	119921567	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.625000	0.61262	2.104000	0.64026	0.528000	0.53228	ACC	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320957.5		+	ENST00000257555.6	Missense_Mutation	SNP	12 : 121437184 - 121437184 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	902	140
POGZ	23126	broad.mit.edu	37	1	151377699	151377699	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151377699G>A	ENST00000271715.2	-	19	4126	c.3812C>T	c.(3811-3813)aCt>aTt	p.T1271I	POGZ_ENST00000491586.1_Missense_Mutation_p.T1227I|POGZ_ENST00000540984.1_Missense_Mutation_p.T633I|POGZ_ENST00000392723.1_Missense_Mutation_p.T1218I|POGZ_ENST00000361398.3_Missense_Mutation_p.T1218I|POGZ_ENST00000409503.1_Missense_Mutation_p.T1262I|POGZ_ENST00000368863.2_Missense_Mutation_p.T1176I|POGZ_ENST00000531094.1_Missense_Mutation_p.T1209I	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1271	DDE.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTTCTTGACAGTTCTTTTGAT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	175	175			NA	NA	1		NA											NA				151377699		2203	4300	6503	SO:0001583	missense			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442	23126	23126			18801	protein-coding gene	gene with protein product	zinc finger protein 280E, putative protein product of Nbla00003	614787			NA	10976766	Standard	NM_207171	NM_015100	NA	Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.3812C>T	1.37:g.151377699G>A	ENSP00000271715:p.Thr1271Ile	NA	O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	37	CCDS997.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848517	0.51164	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586	T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	6.08	6.08	0.98989	.	0.075082	0.56097	D	0.000031	T	0.34077	0.0885	N	0.08118	0	0.32220	N	0.575412	P;P;D;D;B;P	0.67145	0.481;0.481;0.996;0.996;0.426;0.481	B;B;D;D;B;B	0.64144	0.22;0.22;0.922;0.922;0.14;0.22	T	0.39522	-0.9610	10	0.49607	T	0.09	-17.7954	19.2359	0.93858	0.0:0.0:1.0:0.0	.	1209;1262;1176;1227;1218;1271	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	I	1218;1271;1218;1176;1262;1209;633;1227	ENSP00000376484:T1218I;ENSP00000271715:T1271I;ENSP00000354467:T1218I;ENSP00000357856:T1176I;ENSP00000386836:T1262I;ENSP00000431259:T1209I;ENSP00000443547:T633I;ENSP00000418408:T1227I	ENSP00000271715:T1271I	T	-	2	0	POGZ	149644323	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.115000	0.64655	2.894000	0.99253	0.591000	0.81541	ACT	POGZ-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034915.2		-	ENST00000271715.2	Missense_Mutation	SNP	1 : 151377699 - 151377699 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1402	232
MVP	9961	broad.mit.edu	37	16	29853245	29853245	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29853245C>T	ENST00000357402.5	+	10	1584	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F	MVP_ENST00000452209.2_3'UTR|MVP_ENST00000395353.1_Silent_p.F482F	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	482					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GCGTGGTCTTCGGGCCTGAGC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	44	42			NA	NA	16		NA											NA				29853245		2197	4300	6497	SO:0001819	synonymous_variant			X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364	9961	9961			7531	protein-coding gene	gene with protein product	lung resistance-related protein	605088			NA	7585126	Standard	NM_005115	NM_005115	NA	Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.1446C>T	16.37:g.29853245C>T		NA	Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	37	CCDS10656.1																																																																																			MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109711.3		+	ENST00000357402.5	Silent	SNP	16 : 29853245 - 29853245 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	215	50
MUC16	94025	broad.mit.edu	37	19	9057514	9057514	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9057514C>A	ENST00000397910.4	-	3	30135	c.29932G>T	c.(29932-29934)Gcc>Tcc	p.A9978S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9980	Ser-rich.|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						GCCAAGGGGGCTGTTGTTGTG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													214	209	211			NA	NA	19		NA											NA				9057514		1958	4145	6103	SO:0001583	missense			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.29932G>T	19.37:g.9057514C>A	ENSP00000381008:p.Ala9978Ser	NA	Q6ZQW5|Q96RK2	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	5.810	0.333732	0.11013	.	.	ENSG00000181143	ENST00000397910	T	0.23147	1.92	2.13	-3.47	0.04753	.	.	.	.	.	T	0.12475	0.0303	N	0.19112	0.55	.	.	.	B	0.23540	0.087	B	0.26517	0.07	T	0.33445	-0.9868	8	0.87932	D	0	.	0.2525	0.00207	0.2077:0.2926:0.2051:0.2946	.	9978	B5ME49	.	S	9978	ENSP00000381008:A9978S	ENSP00000381008:A9978S	A	-	1	0	MUC16	8918514	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.167000	0.01271	-0.745000	0.04772	0.460000	0.39030	GCC	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Missense_Mutation	SNP	19 : 9057514 - 9057514 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1219	233
NADSYN1	55191	broad.mit.edu	37	11	71208551	71208551	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71208551C>T	ENST00000319023.2	+	19	1975	c.1787C>T	c.(1786-1788)gCg>gTg	p.A596V	NADSYN1_ENST00000530055.1_Missense_Mutation_p.A225V|NADSYN1_ENST00000539574.1_Missense_Mutation_p.A336V	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	596	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ATGACATATGCGGAGCTCTCG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(79;763 1781 6490 50276)							NA				0								C	VAL/ALA	1,4399		0,1,2199	118	115	116		1787	2.7	0	11		116	0,8588		0,0,4294	no	missense	NADSYN1	NM_018161.4	64	0,1,6493	TT,TC,CC	NA	0.0,0.0227,0.0077	benign	596/707	71208551	1,12987	2200	4294	6494	SO:0001583	missense			AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890	55191	55191			29832	protein-coding gene	gene with protein product		608285			NA	12547821	Standard	NM_018161	NM_018161	NA	Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.1787C>T	11.37:g.71208551C>T	ENSP00000326424:p.Ala596Val	NA	Q86SN2|Q9HA25|Q9NVM8	37	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	.	9.137	1.012864	0.19277	2.27E-4	0.0	ENSG00000172890	ENST00000319023;ENST00000539574;ENST00000530055	T;T;T	0.45276	0.9;0.9;0.9	4.81	2.69	0.31865	NAD/GMP synthase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.853139	0.10244	N	0.697976	T	0.46814	0.1412	M	0.83012	2.62	0.09310	N	0.999998	B;B	0.21452	0.056;0.031	B;B	0.23419	0.046;0.037	T	0.44467	-0.9326	10	0.46703	T	0.11	-9.3763	8.6767	0.34183	0.1614:0.7441:0.0:0.0945	.	336;596	B3KUU4;Q6IA69	.;NADE_HUMAN	V	596;336;225	ENSP00000326424:A596V;ENSP00000443718:A336V;ENSP00000431820:A225V	ENSP00000326424:A596V	A	+	2	0	NADSYN1	70886199	0.023000	0.18921	0.003000	0.11579	0.111000	0.19643	2.339000	0.43965	1.031000	0.39867	0.591000	0.81541	GCG	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394356.1		+	ENST00000319023.2	Missense_Mutation	SNP	11 : 71208551 - 71208551 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	263	28
GRM1	2911	broad.mit.edu	37	6	146350781	146350781	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146350781G>T	ENST00000392299.2	+	2	598	c.128G>T	c.(127-129)gGa>gTa	p.G43V	GRM1_ENST00000492807.2_Missense_Mutation_p.G43V|GRM1_ENST00000282753.1_Missense_Mutation_p.G43V|GRM1_ENST00000507907.1_Missense_Mutation_p.G43V|GRM1_ENST00000355289.4_Missense_Mutation_p.G43V|GRM1_ENST00000361719.2_Missense_Mutation_p.G43V			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	43					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	AGAATGGACGGAGATGTCATC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	91	90			NA	NA	6		NA											NA				146350781		2203	4300	6503	SO:0001583	missense			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822	2911	2911		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4593	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 85	604473			NA	9076744, 9376535	Standard	NM_000838	NM_001278064	NA	Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000392299.2:c.128G>T	6.37:g.146350781G>T	ENSP00000376119:p.Gly43Val	NA	B9EG79|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	37	CCDS47497.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637900	0.87760	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3;-2.3	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.94152	0.8124	M	0.87758	2.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.94539	0.7743	10	0.87932	D	0	.	19.5425	0.95280	0.0:0.0:1.0:0.0	.	43;43;38;43	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	V	43	ENSP00000354896:G43V;ENSP00000376119:G43V;ENSP00000424095:G43V;ENSP00000282753:G43V;ENSP00000347437:G43V;ENSP00000425599:G43V	ENSP00000282753:G43V	G	+	2	0	GRM1	146392474	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.062000	0.89475	2.619000	0.88677	0.561000	0.74099	GGA	GRM1-202	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042575.2		+	ENST00000392299.2	Missense_Mutation	SNP	6 : 146350781 - 146350781 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	794	145
MYLK2	85366	broad.mit.edu	37	20	30419645	30419645	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30419645G>A	ENST00000375994.2	+	10	1837	c.1564G>A	c.(1564-1566)Gtc>Atc	p.V522I	MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Missense_Mutation_p.V522I			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	522	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CAACCTCATCGTCAAGGACCA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	93	97			NA	NA	20		NA											NA				30419645		2203	4300	6503	SO:0001583	missense			AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	85366	85366	2.7.11.18		16243	protein-coding gene	gene with protein product	skeletal muscle myosin light chain kinase	606566	myosin light chain kinase 2, skeletal muscle		NA		Standard	NM_033118	NM_033118	NA	Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.1564G>A	20.37:g.30419645G>A	ENSP00000365162:p.Val522Ile	NA	Q569L1|Q96I84	37	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	G	9.596	1.127489	0.20959	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.65178	-0.14;-0.14	4.88	1.79	0.24919	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.51312	0.1667	L	0.56340	1.77	0.23174	N	0.998171	B	0.21606	0.058	B	0.21917	0.037	T	0.36625	-0.9740	9	0.16896	T	0.51	.	6.9167	0.24363	0.4535:0.0:0.5465:0.0	.	522	Q9H1R3	MYLK2_HUMAN	I	522	ENSP00000365162:V522I;ENSP00000365152:V522I	ENSP00000365152:V522I	V	+	1	0	MYLK2	29883306	0.881000	0.30235	1.000000	0.80357	0.990000	0.78478	1.655000	0.37345	0.653000	0.30826	0.643000	0.83706	GTC	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078583.2		+	ENST00000375994.2	Missense_Mutation	SNP	20 : 30419645 - 30419645 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	428	79
D2HGDH	728294	broad.mit.edu	37	2	242681954	242681954	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242681954G>A	ENST00000321264.4	+	4	664	c.455G>A	c.(454-456)cGc>cAc	p.R152H	D2HGDH_ENST00000403782.1_Missense_Mutation_p.R18H|D2HGDH_ENST00000342518.6_Missense_Mutation_p.R152H|D2HGDH_ENST00000537090.1_Missense_Mutation_p.R152H	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	152	FAD-binding PCMH-type.				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TCCACTGCCCGCATGAACCGG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	102	81	88		455	3.9	1	2		88	0,8592		0,0,4296	no	missense	D2HGDH	NM_152783.3	29	0,1,6498	AA,AG,GG	NA	0.0,0.0227,0.0077	possibly-damaging	152/522	242681954	1,12997	2203	4296	6499	SO:0001583	missense			AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	728294	728294	1.1.99.-		28358	protein-coding gene	gene with protein product		609186			NA	15070399, 15609246	Standard	NM_152783	NM_152783	NA	Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.455G>A	2.37:g.242681954G>A	ENSP00000315351:p.Arg152His	NA	Q6IQ24|Q8N5Q8	37	CCDS33426.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196304	0.38806	2.27E-4	0.0	ENSG00000180902	ENST00000537090;ENST00000321264;ENST00000403782;ENST00000342518;ENST00000437164;ENST00000454048	D;D;D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14;-4.14;-4.01	5.06	3.89	0.44902	FAD-binding, type 2, subdomain 1 (1);FAD-binding, type 2 (2);FAD linked oxidase, N-terminal (1);	0.069723	0.64402	D	0.000014	D	0.94515	0.8234	M	0.75264	2.295	0.35735	D	0.818244	P	0.36144	0.539	B	0.32762	0.152	D	0.93942	0.7224	10	0.37606	T	0.19	.	12.0727	0.53626	0.0:0.0:0.1466:0.8534	.	152	Q8N465	D2HDH_HUMAN	H	152;152;18;152;36;22	ENSP00000442796:R152H;ENSP00000315351:R152H;ENSP00000384723:R18H;ENSP00000339536:R152H;ENSP00000412511:R36H;ENSP00000404596:R22H	ENSP00000315351:R152H	R	+	2	0	D2HGDH	242330627	1.000000	0.71417	0.999000	0.59377	0.423000	0.31445	4.589000	0.61006	0.776000	0.33473	-0.425000	0.05940	CGC	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322794.2		+	ENST00000321264.4	Missense_Mutation	SNP	2 : 242681954 - 242681954 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	350	58
POLG	5428	broad.mit.edu	37	15	89872175	89872175	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89872175G>A	ENST00000268124.5	-	4	1355	c.1022C>T	c.(1021-1023)gCg>gTg	p.A341V	POLG_ENST00000442287.2_Splice_Site_p.A341V	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	341					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TGCTCTCACCGCTGGGCCTCT	0.632		NA						DNA polymerases (catalytic subunits)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(73;648 1203 11348 18386 27782)							NA				0													77	68	71			NA	NA	15		NA											NA				89872175		2200	4299	6499	SO:0001630	splice_region_variant			X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521	5428	5428		DNA polymerases	9179	protein-coding gene	gene with protein product		174763			NA	9465903	Standard	NM_002693	NM_002693	NA	Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.1023+1C>T	15.37:g.89872175G>A		NA	Q8NFM2|Q92515	37	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724842	0.48833	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.92595	-3.07;-3.07	6.06	-7.57	0.01318	Ribonuclease H-like (1);	1.214350	0.05347	N	0.531184	D	0.86648	0.5983	M	0.65975	2.015	0.24342	N	0.99495	B	0.02656	0.0	B	0.01281	0.0	T	0.69339	-0.5171	10	0.27785	T	0.31	0.3442	2.8765	0.05632	0.4242:0.0849:0.3187:0.1722	.	341	P54098	DPOG1_HUMAN	V	341	ENSP00000268124:A341V;ENSP00000399851:A341V	ENSP00000268124:A341V	A	-	2	0	POLG	87673179	0.000000	0.05858	0.028000	0.17463	0.389000	0.30415	-0.861000	0.04268	-1.448000	0.01941	-0.812000	0.03155	GCG	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000312854.2	Missense_Mutation	-	ENST00000268124.5	Splice_Site	SNP	15 : 89872175 - 89872175 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	61
DVL1	1855	broad.mit.edu	37	1	1275450	1275450	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1275450C>T	ENST00000378888.5	-	8	1161	c.877G>A	c.(877-879)Ggc>Agc	p.G293S	DVL1_ENST00000378891.5_Missense_Mutation_p.G293S			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	293	PDZ.				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCGATGCGGCCGTCAGCGGCC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	44	42			NA	NA	1		NA											NA				1275450		2201	4298	6499	SO:0001583	missense			AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404	1855	1855		Dishevelled homologs	3084	protein-coding gene	gene with protein product		601365	dishevelled 1 (homologous to Drosophila dsh), dishevelled, dsh homolog 1 (Drosophila)		NA	8817329	Standard	NM_004421	NM_004421	NA	Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.877G>A	1.37:g.1275450C>T	ENSP00000368166:p.Gly293Ser	NA	Q5TA33|Q5TA35	37		.	.	.	.	.	.	.	.	.	.	C	18.53	3.643377	0.67244	.	.	ENSG00000107404	ENST00000378891;ENST00000378888	T;T	0.60548	0.18;0.18	3.43	3.43	0.39272	PDZ/DHR/GLGF (4);	0.117824	0.56097	D	0.000023	T	0.81143	0.4761	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.78314	0.921;0.991	D	0.87372	0.2351	10	0.87932	D	0	.	15.4663	0.75403	0.0:1.0:0.0:0.0	.	293;293	O14640;O14640-2	DVL1_HUMAN;.	S	293	ENSP00000368169:G293S;ENSP00000368166:G293S	ENSP00000368166:G293S	G	-	1	0	DVL1	1265313	1.000000	0.71417	0.892000	0.35008	0.156000	0.22039	7.483000	0.81158	1.933000	0.56026	0.456000	0.33151	GGC	DVL1-004	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000008490.1		-	ENST00000378888.5	Missense_Mutation	SNP	1 : 1275450 - 1275450 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	413	39
DUOXA2	405753	broad.mit.edu	37	15	45408806	45408806	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45408806G>A	ENST00000323030.5	+	4	718	c.433G>A	c.(433-435)Gca>Aca	p.A145T		NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	145					protein transport	endoplasmic reticulum membrane|integral to membrane					NA		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		GTACGCGAACGCACTGGAGAA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	63	61			NA	NA	15		NA											NA				45408806		2087	4233	6320	SO:0001583	missense			BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274	405753	405753			32698	protein-coding gene	gene with protein product		612772			NA	16651268	Standard	NM_207581	NM_207581	NA	Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.433G>A	15.37:g.45408806G>A	ENSP00000319705:p.Ala145Thr	NA	B2RPI9	37	CCDS10118.2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031029	0.75504	.	.	ENSG00000140274	ENST00000323030;ENST00000350243	T	0.62232	0.04	5.58	5.58	0.84498	.	0.106984	0.64402	D	0.000006	T	0.81403	0.4815	M	0.85945	2.785	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	D	0.83964	0.0323	10	0.72032	D	0.01	-18.6423	18.5627	0.91107	0.0:0.0:1.0:0.0	.	145	Q1HG44	DOXA2_HUMAN	T	145;100	ENSP00000319705:A145T	ENSP00000319705:A145T	A	+	1	0	DUOXA2	43196098	1.000000	0.71417	0.122000	0.21767	0.005000	0.04900	5.750000	0.68712	2.633000	0.89246	0.655000	0.94253	GCA	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254142.1		+	ENST00000323030.5	Missense_Mutation	SNP	15 : 45408806 - 45408806 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	338	64
STRIP1	85369	broad.mit.edu	37	1	110580524	110580524	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110580524G>T	ENST00000369795.3	+	2	214	c.192G>T	c.(190-192)gaG>gaT	p.E64D	STRIP1_ENST00000369796.1_5'UTR|STRIP1_ENST00000369794.2_Missense_Mutation_p.E64D	NM_033088.3	NP_149079.2			striatin interacting protein 1	NA											NA						GCTATTCGGAGTCACCAGACC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	98	99			NA	NA	1		NA											NA				110580524		2203	4300	6503	SO:0001583	missense			AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093	85369	85369			25916	protein-coding gene	gene with protein product	FAR11 factor arrest 11 homolog A (yeast)		family with sequence similarity 40, member A	FAM40A	NA	11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088	NM_033088	NA	Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.192G>T	1.37:g.110580524G>T	ENSP00000358810:p.Glu64Asp	NA		37	CCDS30798.1	.	.	.	.	.	.	.	.	.	.	G	7.781	0.709525	0.15239	.	.	ENSG00000143093	ENST00000369795;ENST00000369794	T	0.51574	0.7	5.07	2.07	0.26955	.	0.000000	0.85682	D	0.000000	T	0.08088	0.0202	N	0.05124	-0.11	0.51482	D	0.999924	B	0.15719	0.014	B	0.18561	0.022	T	0.30621	-0.9972	10	0.05721	T	0.95	-27.0266	10.5499	0.45081	0.2788:0.0:0.7212:0.0	.	64	Q5VSL9	FA40A_HUMAN	D	64	ENSP00000358810:E64D	ENSP00000358809:E64D	E	+	3	2	FAM40A	110382047	1.000000	0.71417	0.948000	0.38648	0.641000	0.38312	1.119000	0.31258	0.627000	0.30340	0.555000	0.69702	GAG	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032213.1		+	ENST00000369795.3	Missense_Mutation	SNP	1 : 110580524 - 110580524 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	44
CUX2	23316	broad.mit.edu	37	12	111776115	111776115	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111776115C>T	ENST00000261726.6	+	20	3376	c.3222C>T	c.(3220-3222)atC>atT	p.I1074I		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1074						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GGGAAAGCATCCTGGGTCTGA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	54	52			NA	NA	12		NA											NA				111776115		1954	4155	6109	SO:0001819	synonymous_variant			AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249	23316	23316		Homeoboxes / CUT class	19347	protein-coding gene	gene with protein product		610648	cut-like 2 (Drosophila)	CUTL2	NA		Standard	NM_015267	NM_015267	NA	Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.3222C>T	12.37:g.111776115C>T		NA	A7E2Y4	37	CCDS41837.1																																																																																			CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404765.1		+	ENST00000261726.6	Silent	SNP	12 : 111776115 - 111776115 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	425	52
AGFG2	3268	broad.mit.edu	37	7	100161557	100161557	+	Silent	SNP	G	G	A	rs35771030	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100161557G>A	ENST00000300176.4	+	10	1394	c.1272G>A	c.(1270-1272)ccG>ccA	p.P424P	AGFG2_ENST00000474713.1_Intron|AGFG2_ENST00000262935.4_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	424	Pro-rich.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGTTCCCCCCGCAGACCCCGC	0.602		NA									OREG0018204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		2,4404	4.2+/-10.8	0,2,2201	68	75	72		1272	-2.2	0	7	dbSNP_126	72	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous	AGFG2	NM_006076.4		0,10,6493	AA,AG,GG	NA	0.093,0.0454,0.0769		424/482	100161557	10,12996	2203	4300	6503	SO:0001819	synonymous_variant			AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351	3268	3268		ADP-ribosylation factor GTPase activating proteins	5177	protein-coding gene	gene with protein product		604019	HIV-1 Rev binding protein-like	HRBL	NA	9799793	Standard	NM_006076	XM_005250306	NA	Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.1272G>A	7.37:g.100161557G>A		1349	O75429|Q96AB9|Q96GL4	37	CCDS5697.1	.	.	.	.	.	.	.	.	.	.	G	0.037	-1.300818	0.01364	4.54E-4	9.3E-4	ENSG00000106351	ENST00000429987	.	.	.	4.34	-2.18	0.07037	.	.	.	.	.	T	0.31199	0.0789	.	.	.	0.24692	N	0.993301	.	.	.	.	.	.	T	0.33471	-0.9867	4	.	.	.	-47.8848	8.5987	0.33732	0.6053:0.0:0.3947:0.0	rs35771030	.	.	.	H	166	.	.	R	+	2	0	AGFG2	99999493	0.000000	0.05858	0.004000	0.12327	0.000000	0.00434	-1.375000	0.02563	-0.607000	0.05738	-1.188000	0.01700	CGC	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342769.1		+	ENST00000300176.4	Silent	SNP	7 : 100161557 - 100161557 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	719	140
HS3ST2	9956	broad.mit.edu	37	16	22926592	22926592	+	Silent	SNP	C	C	T	rs144169281		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22926592C>T	ENST00000261374.3	+	2	1247	c.813C>T	c.(811-813)ttC>ttT	p.F271F		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	271						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		AGATTCACTTCGTCAGTGGCG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4394		0,0,2197	105	99	101		813	1.7	1	16	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HS3ST2	NM_006043.1		0,1,6496	TT,TC,CC	NA	0.0116,0.0,0.0077		271/368	22926592	1,12993	2197	4300	6497	SO:0001819	synonymous_variant			AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	9956	9956	2.8.2.23	Sulfotransferases, membrane-bound	5195	protein-coding gene	gene with protein product		604056			NA	9988767	Standard	NM_006043	NM_006043	NA	Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.813C>T	16.37:g.22926592C>T		NA	Q52LZ1	37	CCDS10606.1																																																																																			HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000211598.1		+	ENST00000261374.3	Silent	SNP	16 : 22926592 - 22926592 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1052	227
MYO15A	51168	broad.mit.edu	37	17	18030104	18030104	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18030104G>T	ENST00000205890.5	+	6	4204		c.e6-1			NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	NA					sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGTCTCCCCAGGCACCTCTTT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	117	116			NA	NA	17		NA											NA				18030104		2003	4164	6167	SO:0001630	splice_region_variant			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536	51168	51168		Myosins / Myosin superfamily : Class XV	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15	NA	9603736	Standard	NM_016239	NM_016239	NA	Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.3867-1G>T	17.37:g.18030104G>T		NA		37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459850	0.84317	.	.	ENSG00000091536	ENST00000205890	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3189	0.90231	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO15A	17970829	1.000000	0.71417	0.992000	0.48379	0.935000	0.57460	9.807000	0.99171	2.321000	0.78463	0.655000	0.94253	.	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132048.1	Intron	+	ENST00000205890.5	Splice_Site	SNP	17 : 18030104 - 18030104 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	756	30
ALMS1	7840	broad.mit.edu	37	2	73675536	73675536	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73675536C>T	ENST00000264448.6	+	8	1990	c.1879C>T	c.(1879-1881)Cct>Tct	p.P627S	ALMS1_ENST00000409009.1_Missense_Mutation_p.P585S|ALMS1_ENST00000377715.1_Missense_Mutation_p.P627S	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	627	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TAGAGAGAAGCCTGGTACTTT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	113	112			NA	NA	2		NA											NA				73675536		1864	4092	5956	SO:0001583	missense			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127	7840	7840			428	protein-coding gene	gene with protein product		606844			NA	9063741	Standard	NM_015120	NM_015120	NA	Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.1879C>T	2.37:g.73675536C>T	ENSP00000264448:p.Pro627Ser	NA	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	1.717	-0.497604	0.04291	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.17691	3.14;3.13;2.26	4.08	0.202	0.15190	.	1.540760	0.03657	N	0.242053	T	0.12433	0.0302	L	0.38175	1.15	0.09310	N	1	P;P;B	0.35401	0.499;0.499;0.307	B;B;B	0.26416	0.069;0.069;0.069	T	0.26052	-1.0114	10	0.34782	T	0.22	.	6.1427	0.20269	0.0:0.5246:0.0:0.4754	.	627;585;627	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	S	585;627;627	ENSP00000386627:P585S;ENSP00000264448:P627S;ENSP00000366944:P627S	ENSP00000264448:P627S	P	+	1	0	ALMS1	73529044	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.079000	0.03410	0.016000	0.14998	0.655000	0.94253	CCT	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327776.1		+	ENST00000264448.6	Missense_Mutation	SNP	2 : 73675536 - 73675536 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	946	202
ZNF750	79755	broad.mit.edu	37	17	80790046	80790046	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80790046G>T	ENST00000269394.3	-	2	1118	c.285C>A	c.(283-285)ctC>ctA	p.L95L	TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	95						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CGAAGGCAGAGAGTCCATTTG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	95	100			NA	NA	17		NA											NA				80790046		2203	4300	6503	SO:0001819	synonymous_variant			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579	79755	79755			25843	protein-coding gene	gene with protein product		610226			NA	16751772	Standard	NM_024702	NM_024702	NA	Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.285C>A	17.37:g.80790046G>T		NA	Q9H899	37	CCDS11819.1																																																																																			ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000439074.2		-	ENST00000269394.3	Silent	SNP	17 : 80790046 - 80790046 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	505	100
SH3PXD2A	9644	broad.mit.edu	37	10	105362601	105362601	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105362601G>T	ENST00000369774.4	-	15	2650	c.2374C>A	c.(2374-2376)Ctc>Atc	p.L792I	SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.L659I|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.L627I|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.L764I|SH3PXD2A_ENST00000315994.6_5'UTR			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	792					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GAGCCCTTGAGCCCTCCACGG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													182	183	183			NA	NA	10		NA											NA				105362601		2203	4300	6503	SO:0001583	missense			AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957	9644	9644			23664	protein-coding gene	gene with protein product	five SH3 domains		SH3 multiple domains 1	SH3MD1	NA	9687503	Standard	NM_014631	XM_005270297	NA	Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.2374C>A	10.37:g.105362601G>T	ENSP00000358789:p.Leu792Ile	NA	D3DR98|O43302|Q5TCZ2|Q5TDQ8	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.19|12.19	1.862342|1.862342	0.32884|0.32884	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000420222|ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130	.|T;T;T;T	.|0.59224	.|0.39;0.33;0.49;0.28	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	.|0.056930	.|0.64402	.|D	.|0.000001	T|T	0.66761|0.66761	0.2822|0.2822	L|L	0.32530|0.32530	0.975|0.975	0.37370|0.37370	D|D	0.911607|0.911607	.|D;D;D;D	.|0.71674	.|0.997;0.997;0.998;0.998	.|D;D;D;D	.|0.77557	.|0.978;0.978;0.984;0.99	T|T	0.66842|0.66842	-0.5821|-0.5821	5|10	.|0.27785	.|T	.|0.31	-25.5521|-25.5521	18.5141|18.5141	0.90930|0.90930	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|792;641;637;764	.|Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3	.|SPD2A_HUMAN;.;.;.	D|I	718|792;764;599;707;659;627	.|ENSP00000358789:L792I;ENSP00000348215:L764I;ENSP00000443663:L659I;ENSP00000441514:L627I	.|ENSP00000318135:L599I	A|L	-|-	2|1	0|0	SH3PXD2A|SH3PXD2A	105352591|105352591	0.997000|0.997000	0.39634|0.39634	0.974000|0.974000	0.42286|0.42286	0.356000|0.356000	0.29392|0.29392	2.362000|2.362000	0.44169|0.44169	2.373000|2.373000	0.80994|0.80994	0.555000|0.555000	0.69702|0.69702	GCT|CTC	SH3PXD2A-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000050178.1		-	ENST00000369774.4	Missense_Mutation	SNP	10 : 105362601 - 105362601 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1516	282
KRTAP24-1	643803	broad.mit.edu	37	21	31654660	31654660	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31654660G>T	ENST00000340345.4	-	1	616	c.591C>A	c.(589-591)agC>agA	p.S197R		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	197	6 X 10 AA repeats of Y-[ILR]-[SVPC]- [NRTS]-[SNTG]-X-[QHRP]-[PSY]-[QSL]-[SRK].					keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						GGGGTTGGCAGCTGTTGGAAA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	106	107			NA	NA	21		NA											NA				31654660		1860	4106	5966	SO:0001583	missense			AB096935	CCDS42915.1	21q22.11	2007-11-23			ENSG00000188694	ENSG00000188694	643803	643803		Keratin associated proteins	33902	protein-coding gene	gene with protein product					NA		Standard	NM_001085455	NM_001085455	NA	Approved	KAP24.1	uc002ynv.3	Q3LI83	OTTHUMG00000125483	ENST00000340345.4:c.591C>A	21.37:g.31654660G>T	ENSP00000339238:p.Ser197Arg	NA	Q1XDX0	37	CCDS42915.1	.	.	.	.	.	.	.	.	.	.	g	2.552	-0.303796	0.05495	.	.	ENSG00000188694	ENST00000340345	T	0.37058	1.22	4.93	0.789	0.18607	.	1.016370	0.07852	N	0.964882	T	0.20373	0.0490	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.29212	-1.0019	10	0.25106	T	0.35	-0.0641	6.5864	0.22622	0.0855:0.0:0.4606:0.454	.	197	Q3LI83	KR241_HUMAN	R	197	ENSP00000339238:S197R	ENSP00000339238:S197R	S	-	3	2	KRTAP24-1	30576531	0.139000	0.22563	0.000000	0.03702	0.001000	0.01503	0.131000	0.15870	0.022000	0.15160	-0.213000	0.12676	AGC	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000246806.2		-	ENST00000340345.4	Missense_Mutation	SNP	21 : 31654660 - 31654660 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	485	106
PKDREJ	10343	broad.mit.edu	37	22	46655499	46655499	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46655499G>A	ENST00000253255.5	-	1	3720	c.3721C>T	c.(3721-3723)Cgt>Tgt	p.R1241C		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1241	PLAT.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GACCCCCAACGACTTCCTGTA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	96	94			NA	NA	22		NA											NA				46655499		2203	4300	6503	SO:0001583	missense			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943	10343	10343			9015	protein-coding gene	gene with protein product		604670	polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like, polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like, polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)		NA	9949214, 10591208	Standard	NM_006071	NM_006071	NA	Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.3721C>T	22.37:g.46655499G>A	ENSP00000253255:p.Arg1241Cys	NA	B1AJY3|O95850	37	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030850	0.75504	.	.	ENSG00000130943	ENST00000253255	T	0.65364	-0.15	5.04	5.04	0.67666	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.000000	0.64402	D	0.000009	D	0.83179	0.5198	M	0.90198	3.095	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.86768	0.1971	10	0.72032	D	0.01	-23.7677	17.7521	0.88438	0.0:0.0:1.0:0.0	.	1241	Q9NTG1	PKDRE_HUMAN	C	1241	ENSP00000253255:R1241C	ENSP00000253255:R1241C	R	-	1	0	PKDREJ	45034163	1.000000	0.71417	0.977000	0.42913	0.735000	0.41995	4.500000	0.60387	2.520000	0.84964	0.561000	0.74099	CGT	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318466.1		-	ENST00000253255.5	Missense_Mutation	SNP	22 : 46655499 - 46655499 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	644	118
HECTD4	283450	broad.mit.edu	37	12	112642296	112642296	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112642296G>A	ENST00000550722.1	-	53	8220	c.7825C>T	c.(7825-7827)Cga>Tga	p.R2609*	HECTD4_ENST00000430131.2_Nonsense_Mutation_p.R2333*|HECTD4_ENST00000377560.5_Nonsense_Mutation_p.R2583*	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4	NA								p.R2583*(1)			NA						AAACCTTTTCGAACTTTATCA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Nonsense(1)	large_intestine(1)											100	102	102			NA	NA	12		NA											NA				112642296		1925	4109	6034	SO:0001587	stop_gained			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064	283450	283450			26611	protein-coding gene	gene with protein product			chromosome 12 open reading frame 51	C12orf51	NA	21270382	Standard	NM_173813	NM_001109662	NA	Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000550722.1:c.7825C>T	12.37:g.112642296G>A	ENSP00000449784:p.Arg2609*	NA		37		.	.	.	.	.	.	.	.	.	.	G	37	6.053339	0.97241	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	.	.	.	6.02	6.02	0.97574	.	0.188661	0.34906	U	0.003584	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	.	.	.	X	2583;2333;2609	.	ENSP00000366783:R2583X	R	-	1	2	C12orf51	111126679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.187000	0.94912	2.865000	0.98341	0.655000	0.94253	CGA	HECTD4-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000405222.1		-	ENST00000550722.1	Nonsense_Mutation	SNP	12 : 112642296 - 112642296 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	427	23
TMEM175	84286	broad.mit.edu	37	4	944245	944245	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:944245C>T	ENST00000264771.4	+	4	414	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	TMEM175_ENST00000515740.1_5'UTR|TMEM175_ENST00000508204.1_5'UTR|TMEM175_ENST00000504180.1_3'UTR	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	77						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TCTGGCAACACGGATTGCCGT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	116	122			NA	NA	4		NA											NA				944245		2203	4300	6503	SO:0001583	missense			BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419	84286	84286			28709	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_032326	XM_005272301	NA	Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.229C>T	4.37:g.944245C>T	ENSP00000264771:p.Arg77Trp	NA	D3DVN4|Q8ND13	37	CCDS3341.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.381533	0.42207	.	.	ENSG00000127419	ENST00000507319;ENST00000264771;ENST00000514453;ENST00000514546	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	4.9	3.72	0.42706	.	0.133487	0.48767	D	0.000179	T	0.47488	0.1448	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.45381	-0.9265	10	0.87932	D	0	-9.1519	8.6409	0.33976	0.7942:0.2058:0.0:0.0	.	77	Q9BSA9	TM175_HUMAN	W	76;77;64;77	ENSP00000424746:R76W;ENSP00000264771:R77W;ENSP00000425181:R64W;ENSP00000425763:R77W	ENSP00000264771:R77W	R	+	1	2	TMEM175	934245	1.000000	0.71417	0.411000	0.26484	0.002000	0.02628	6.164000	0.71885	0.740000	0.32651	-0.424000	0.05967	CGG	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239193.2		+	ENST00000264771.4	Missense_Mutation	SNP	4 : 944245 - 944245 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	615	112
C19orf12	83636	broad.mit.edu	37	19	30199248	30199248	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30199248C>T	ENST00000392278.2	-	2	232	c.106G>A	c.(106-108)Gtc>Atc	p.V36I	C19orf12_ENST00000392276.1_Intron|C19orf12_ENST00000323670.9_Missense_Mutation_p.V25I|C19orf12_ENST00000592153.1_Missense_Mutation_p.V25I|C19orf12_ENST00000392275.1_Intron	NM_001031726.3	NP_001026896.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	25						integral to membrane					NA	Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			GAGTGCTTGACAGCCGCCTTC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	68	67			NA	NA	19		NA											NA				30199248		1947	4139	6086	SO:0001583	missense			AK057185	CCDS12418.2, CCDS42542.1, CCDS59373.1, CCDS74325.1	19q13.11	2013-07-24			ENSG00000131943	ENSG00000131943	83636	83636			25443	protein-coding gene	gene with protein product	neurodegeneration with brain iron accumulation 4	614297	spastic paraplegia 43 (autosomal recessive)	SPG43	NA	21981780, 23857908	Standard	NM_031448	NM_031448	NA	Approved	MGC10922, DKFZP762D096, NBIA4	uc002nsj.3	Q9NSK7	OTTHUMG00000149838	ENST00000392278.2:c.106G>A	19.37:g.30199248C>T	ENSP00000376103:p.Val36Ile	NA	B3KQ16|Q0D2Q0|Q6P4C5|Q9BSL7	37	CCDS42542.1	.	.	.	.	.	.	.	.	.	.	C	8.231	0.804629	0.16467	.	.	ENSG00000131943	ENST00000323670;ENST00000392278;ENST00000342680	D;D;D	0.82255	-1.59;-1.59;-1.59	6.08	-0.232	0.13082	.	0.360249	0.28398	N	0.015489	T	0.66208	0.2766	L	0.28274	0.84	0.37127	D	0.901079	B;B	0.18863	0.011;0.031	B;B	0.18871	0.016;0.023	T	0.51458	-0.8703	10	0.19147	T	0.46	-25.3389	6.3088	0.21153	0.12:0.5333:0.0:0.3467	.	25;36	Q9NSK7;Q9NSK7-4	CS012_HUMAN;.	I	25;36;25	ENSP00000313332:V25I;ENSP00000376103:V36I;ENSP00000345497:V25I	ENSP00000313332:V25I	V	-	1	0	C19orf12	34891088	0.001000	0.12720	0.307000	0.25127	0.060000	0.15804	-0.075000	0.11431	0.163000	0.19507	0.591000	0.81541	GTC	C19orf12-003	KNOWN	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313509.2		-	ENST00000392278.2	Missense_Mutation	SNP	19 : 30199248 - 30199248 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	507	112
NCOA4	8031	broad.mit.edu	37	10	51584652	51584652	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:51584652G>A	ENST00000443446.1	+	8	980	c.751G>A	c.(751-753)Ggg>Agg	p.G251R	NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000430396.2_Missense_Mutation_p.G151R|NCOA4_ENST00000414907.2_Missense_Mutation_p.G85R|NCOA4_ENST00000452682.1_Missense_Mutation_p.G267R|NCOA4_ENST00000374082.1_Missense_Mutation_p.G251R|NCOA4_ENST00000374087.4_Missense_Mutation_p.G251R|NCOA4_ENST00000438493.1_Missense_Mutation_p.G267R|NCOA4_ENST00000344348.6_Missense_Mutation_p.G251R	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	251					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	p.G267W(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CAATAATGTCGGGGGAAACCT	0.388		NA	T	RET	papillary thyroid									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		10	10q11.2	8031	nuclear receptor coactivator 4 - PTC3 (ELE1)		E	1	Substitution - Missense(1)	lung(1)											56	60	59			NA	NA	10		NA											NA				51584652		2203	4300	6503	SO:0001583	missense			L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412	8031	8031			7671	protein-coding gene	gene with protein product	RET-activating gene ELE1	601984			NA	8290261, 8643607, 24695223	Standard	NM_005437	NM_001145260	NA	Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.751G>A	10.37:g.51584652G>A	ENSP00000390713:p.Gly251Arg	NA	Q14239	37	CCDS7237.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	14.62|14.62	2.591007|2.591007	0.46214|0.46214	.|.	.|.	ENSG00000138293|ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000414907;ENST00000344348;ENST00000374082;ENST00000443446|ENST00000431200	T;T;T;T;T;T;T;T|.	0.28069|.	1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63|.	6.03|6.03	4.9|4.9	0.64082|0.64082	.|.	0.054224|.	0.85682|.	D|.	0.000000|.	T|T	0.26882|0.26882	0.0658|0.0658	N|N	0.08118|0.08118	0|0	0.28431|0.28431	N|N	0.917286|0.917286	B;B;B;P|.	0.40083|.	0.233;0.107;0.107;0.702|.	B;B;B;B|.	0.31245|.	0.007;0.007;0.007;0.126|.	T|T	0.17198|0.17198	-1.0377|-1.0377	10|5	0.59425|.	D|.	0.04|.	-29.3647|-29.3647	13.562|13.562	0.61795|0.61795	0.0:0.0:0.1311:0.8689|0.0:0.0:0.1311:0.8689	.|.	151;267;267;251|.	B4DF87;B4E260;E9PAV7;Q13772|.	.;.;.;NCOA4_HUMAN|.	R|Q	267;267;151;251;85;251;251;251|166	ENSP00000405146:G267R;ENSP00000395465:G267R;ENSP00000393053:G151R;ENSP00000363200:G251R;ENSP00000411018:G85R;ENSP00000344552:G251R;ENSP00000363195:G251R;ENSP00000390713:G251R|.	ENSP00000344552:G251R|.	G|R	+|+	1|2	0|0	NCOA4|NCOA4	51254658|51254658	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.704000|0.704000	0.40688|0.40688	5.510000|5.510000	0.67018|0.67018	1.104000|1.104000	0.41587|0.41587	-0.256000|-0.256000	0.11100|0.11100	GGG|CGG	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048052.1		+	ENST00000443446.1	Missense_Mutation	SNP	10 : 51584652 - 51584652 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	553	110
EGFR	1956	broad.mit.edu	37	7	55240761	55240761	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:55240761C>T	ENST00000455089.1	+	16	2127	c.1870C>T	c.(1870-1872)Cga>Tga	p.R624*	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Nonsense_Mutation_p.R616*|EGFR_ENST00000275493.2_Nonsense_Mutation_p.R669*			P00533	EGFR_HUMAN	epidermal growth factor receptor	669					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R669*(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCTCTTCATGCGAAGGCGCCA	0.667		8	A, O, Mis		glioma, NSCLC	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)		E, O	1	Substitution - Nonsense(1)	endometrium(1)											79	72	75			NA	NA	7		NA											NA				55240761		2203	4300	6503	SO:0001587	stop_gained	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648	1956	1956			3236	protein-coding gene	gene with protein product	erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)	131550	epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)	ERBB	NA	1505215	Standard	NM_005228	NM_201282	NA	Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000455089.1:c.1870C>T	7.37:g.55240761C>T	ENSP00000415559:p.Arg624*	NA	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	37		.	.	.	.	.	.	.	.	.	.	C	41	8.579219	0.98870	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757;ENST00000533450	.	.	.	5.96	1.75	0.24633	.	0.048957	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2219	0.43203	0.4977:0.3801:0.1222:0.0	.	.	.	.	X	624;539;669;616;463	.	ENSP00000275493:R669X	R	+	1	2	EGFR	55208255	1.000000	0.71417	0.677000	0.29947	0.924000	0.55760	1.702000	0.37836	0.348000	0.23949	0.655000	0.94253	CGA	EGFR-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000343056.1		+	ENST00000455089.1	Nonsense_Mutation	SNP	7 : 55240761 - 55240761 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	493	83
ABCA8	10351	broad.mit.edu	37	17	66914273	66914273	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66914273T>C	ENST00000269080.2	-	14	1979	c.1842A>G	c.(1840-1842)caA>caG	p.Q614Q	ABCA8_ENST00000586539.1_Silent_p.Q654Q|ABCA8_ENST00000430352.2_Silent_p.Q654Q	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	614	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GGTTCCATACTTGGTGTCTTG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	145	157			NA	NA	17		NA											NA				66914273		2203	4300	6503	SO:0001819	synonymous_variant			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338	10351	10351		ATP binding cassette transporters / subfamily A	38	protein-coding gene	gene with protein product		612505			NA		Standard	NM_007168	XM_005256938	NA	Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.1842A>G	17.37:g.66914273T>C		NA	Q86WW0	37	CCDS11680.1																																																																																			ABCA8-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450172.1		-	ENST00000269080.2	Silent	SNP	17 : 66914273 - 66914273 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	70
TRIM7	81786	broad.mit.edu	37	5	180622208	180622208	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180622208G>A	ENST00000393315.1	-	7	1567	c.870C>T	c.(868-870)ttC>ttT	p.F290F	TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000361809.3_Silent_p.F290F|TRIM7_ENST00000274773.7_Silent_p.F498F|TRIM7_ENST00000422067.2_Silent_p.F290F|TRIM7_ENST00000393319.3_Silent_p.F316F	NM_203296.1	NP_976041.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	498						cytoplasm|nucleus	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		AGCAAACAGAGAAAAGCGGGA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(128;2258 2308 35507 48647)							NA				0													59	43	49			NA	NA	5		NA											NA				180622208		2203	4300	6503	SO:0001819	synonymous_variant			AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054	81786	81786		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	16278	protein-coding gene	gene with protein product	glycogenin-interacting protein, tripartite motif protein TRIM7	609315	tripartite motif-containing 7		NA	11331580	Standard	NM_203296	NM_203294	NA	Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000393315.1:c.870C>T	5.37:g.180622208G>A		NA	A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	37	CCDS4463.1																																																																																			TRIM7-202	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368529.3		-	ENST00000393315.1	Silent	SNP	5 : 180622208 - 180622208 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	210	51
IGSF10	285313	broad.mit.edu	37	3	151166366	151166366	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151166366A>G	ENST00000282466.3	-	4	1402	c.1403T>C	c.(1402-1404)gTg>gCg	p.V468A		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	468	Ig-like C2-type 1.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTGTGTTTCACTGGCCTCAT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													228	206	214			NA	NA	3		NA											NA				151166366		2203	4300	6503	SO:0001583	missense			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580	285313	285313		Immunoglobulin superfamily / I-set domain containing	26384	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_178822	NM_178822	NA	Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.1403T>C	3.37:g.151166366A>G	ENSP00000282466:p.Val468Ala	NA	Q86YJ9|Q8N772|Q8NA84	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	A	3.912	-0.019859	0.07634	.	.	ENSG00000152580	ENST00000282466	T	0.67345	-0.26	5.08	-5.93	0.02254	Immunoglobulin-like (1);	0.951725	0.08579	N	0.924933	T	0.34948	0.0915	N	0.14661	0.345	0.09310	N	1	B	0.14805	0.011	B	0.13407	0.009	T	0.38394	-0.9663	10	0.05620	T	0.96	.	3.7276	0.08481	0.2819:0.4251:0.0666:0.2264	.	468	Q6WRI0	IGS10_HUMAN	A	468	ENSP00000282466:V468A	ENSP00000282466:V468A	V	-	2	0	IGSF10	152649056	0.000000	0.05858	0.000000	0.03702	0.872000	0.50106	-0.406000	0.07187	-0.821000	0.04312	0.454000	0.30748	GTG	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357782.1		-	ENST00000282466.3	Missense_Mutation	SNP	3 : 151166366 - 151166366 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	698	125
OR6C3	254786	broad.mit.edu	37	12	55725792	55725792	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55725792T>C	ENST00000379667.1	+	1	308	c.308T>C	c.(307-309)tTc>tCc	p.F103S		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TTCTTTATCTTCATGGGGGTG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	104	103			NA	NA	12		NA											NA				55725792		2203	4300	6503	SO:0001583	missense			AF179770	CCDS31819.1	12q13.2	2013-09-23			ENSG00000205329	ENSG00000205329	254786	254786		GPCR / Class A : Olfactory receptors	15437	protein-coding gene	gene with protein product					NA		Standard		NM_054104	NA	Approved	OST709	uc010spj.2	Q9NZP0	OTTHUMG00000169861	ENST00000379667.1:c.308T>C	12.37:g.55725792T>C	ENSP00000368989:p.Phe103Ser	NA		37	CCDS31819.1	.	.	.	.	.	.	.	.	.	.	T	6.994	0.553566	0.13374	.	.	ENSG00000205329	ENST00000379667	T	0.00330	8.08	5.18	2.7	0.31948	GPCR, rhodopsin-like superfamily (1);	0.131035	0.34802	N	0.003677	T	0.00144	0.0004	N	0.13272	0.32	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.40997	-0.9533	10	0.48119	T	0.1	.	3.5933	0.07997	0.2892:0.1431:0.0:0.5677	.	103	Q9NZP0	OR6C3_HUMAN	S	103	ENSP00000368989:F103S	ENSP00000368989:F103S	F	+	2	0	OR6C3	54012059	0.000000	0.05858	0.007000	0.13788	0.448000	0.32197	0.456000	0.21859	0.458000	0.26988	0.478000	0.44815	TTC	OR6C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406309.1		+	ENST00000379667.1	Missense_Mutation	SNP	12 : 55725792 - 55725792 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	807	151
CHST10	9486	broad.mit.edu	37	2	101010006	101010006	+	Missense_Mutation	SNP	C	C	T	rs3748932		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101010006C>T	ENST00000264249.3	-	7	1157	c.772G>A	c.(772-774)Gac>Aac	p.D258N	CHST10_ENST00000409701.1_Missense_Mutation_p.D258N|CHST10_ENST00000542617.1_Missense_Mutation_p.D306N	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	258			D -> N (in dbSNP:rs3748932).		carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						ATGATGTGGTCCCCAAACTGA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													254	228	237			NA	NA	2		NA											NA				101010006		2203	4300	6503	SO:0001583	missense			BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526	9486	9486		Sulfotransferases, membrane-bound	19650	protein-coding gene	gene with protein product		606376			NA	12080076	Standard	NM_004854	NM_004854	NA	Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.772G>A	2.37:g.101010006C>T	ENSP00000264249:p.Asp258Asn	NA		37	CCDS2047.1	.	.	.	.	.	.	.	.	.	.	C	36	5.781912	0.96929	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701	T;T;T	0.73575	-0.76;-0.76;-0.76	6.06	6.06	0.98353	.	0.084712	0.85682	D	0.000000	T	0.70859	0.3272	L	0.37750	1.13	0.80722	D	1	P	0.43231	0.801	B	0.43225	0.412	T	0.65668	-0.6112	10	0.23302	T	0.38	-38.744	20.6208	0.99490	0.0:1.0:0.0:0.0	rs3748932;rs3748932	258	O43529	CHSTA_HUMAN	N	258;306;258	ENSP00000264249:D258N;ENSP00000438869:D306N;ENSP00000387309:D258N	ENSP00000264249:D258N	D	-	1	0	CHST10	100376438	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	GAC	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253162.1		-	ENST00000264249.3	Missense_Mutation	SNP	2 : 101010006 - 101010006 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1070	169
TIE1	7075	broad.mit.edu	37	1	43777353	43777353	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43777353C>T	ENST00000372476.3	+	10	1424	c.1345C>T	c.(1345-1347)Ccc>Tcc	p.P449S	TIE1_ENST00000433781.2_Missense_Mutation_p.P94S	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	449	Fibronectin type-III 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCCCCCCGTGCCCCTGGCTGC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	59	57			NA	NA	1		NA											NA				43777353		2203	4300	6503	SO:0001583	missense			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	7075	7075	2.7.10.1	Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	11809	protein-coding gene	gene with protein product		600222	tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1	TIE	NA	1312667	Standard	NM_005424	NM_005424	NA	Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1345C>T	1.37:g.43777353C>T	ENSP00000361554:p.Pro449Ser	NA		37	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144981	0.77888	.	.	ENSG00000066056	ENST00000372476;ENST00000433781	T;T	0.79749	-1.3;0.89	5.03	4.11	0.48088	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.217057	0.23356	N	0.049067	D	0.90304	0.6967	M	0.84683	2.71	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.957;0.987;1.0;0.981	D;P;P;D;P	0.91635	0.998;0.75;0.763;0.999;0.873	D	0.91676	0.5354	10	0.72032	D	0.01	.	15.4145	0.74956	0.0:0.8602:0.1398:0.0	.	94;404;449;94;449	E9PG63;B4DTW8;B5A952;B4DKW0;P35590	.;.;.;.;TIE1_HUMAN	S	449;94	ENSP00000361554:P449S;ENSP00000411728:P94S	ENSP00000361554:P449S	P	+	1	0	TIE1	43549940	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	3.538000	0.53597	1.101000	0.41535	0.563000	0.77884	CCC	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019011.1		+	ENST00000372476.3	Missense_Mutation	SNP	1 : 43777353 - 43777353 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	623	58
HR	55806	broad.mit.edu	37	8	21985060	21985060	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21985060C>T	ENST00000381418.4	-	3	2375	c.895G>A	c.(895-897)Gat>Aat	p.D299N	HR_ENST00000312841.8_Missense_Mutation_p.D299N	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	299							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		AGGTTCCCATCGCCTGGCCCA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	32	32			NA	NA	8		NA											NA				21985060		2203	4298	6501	SO:0001583	missense			AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453	55806	55806			5172	protein-coding gene	gene with protein product		602302	hairless (mouse) homolog, hairless homolog (mouse)	ALUNC	NA	10051399, 9463324	Standard		NM_018411	NA	Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.895G>A	8.37:g.21985060C>T	ENSP00000370826:p.Asp299Asn	NA	Q6GS30|Q96H33|Q9NPE1	37	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	C	1.900	-0.453240	0.04540	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.70749	-0.51;-0.51	5.8	-0.854	0.10705	.	0.683555	0.14524	N	0.314266	T	0.40322	0.1112	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28038	-1.0056	10	0.08179	T	0.78	0.2563	9.1659	0.37052	0.0:0.3252:0.0:0.6748	.	299;299	O43593-2;O43593	.;HAIR_HUMAN	N	299	ENSP00000370826:D299N;ENSP00000326765:D299N	ENSP00000326765:D299N	D	-	1	0	HR	22041005	0.001000	0.12720	0.000000	0.03702	0.058000	0.15608	-0.153000	0.10144	-0.295000	0.08960	-0.672000	0.03802	GAT	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214213.1		-	ENST00000381418.4	Missense_Mutation	SNP	8 : 21985060 - 21985060 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	367	69
UBL3	5412	broad.mit.edu	37	13	30341410	30341410	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:30341410A>C	ENST00000380680.4	-	5	1481	c.336T>G	c.(334-336)aaT>aaG	p.N112K		NM_007106.3	NP_009037.1	O95164	UBL3_HUMAN	ubiquitin-like 3	112						intracellular|plasma membrane				large_intestine(3)|lung(1)	4		Lung SC(185;0.0281)		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)		TTACACAACAATTACTCTCTC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	104	112			NA	NA	13		NA											NA				30341410		2203	4300	6503	SO:0001583	missense			AF044221	CCDS9334.1	13q12-q13	2008-07-18			ENSG00000122042	ENSG00000122042	5412	5412			12504	protein-coding gene	gene with protein product		604711		PNSC1	NA	10375635	Standard	NM_007106	NM_007106	NA	Approved	HCG-1, DKFZP434K151, FLJ32018	uc001usp.3	O95164	OTTHUMG00000016661	ENST00000380680.4:c.336T>G	13.37:g.30341410A>C	ENSP00000370055:p.Asn112Lys	NA	Q5RL72|Q5VZS0|Q6FIG8|Q96SG7	37	CCDS9334.1	.	.	.	.	.	.	.	.	.	.	A	16.32	3.089414	0.55968	.	.	ENSG00000122042	ENST00000380680	.	.	.	5.6	-6.0	0.02206	.	0.000000	0.85682	D	0.000000	T	0.30008	0.0751	N	0.08118	0	0.53688	D	0.999978	B	0.15141	0.012	B	0.14578	0.011	T	0.02533	-1.1145	9	0.27785	T	0.31	-9.8642	13.6483	0.62294	0.4808:0.0:0.5192:0.0	.	112	O95164	UBL3_HUMAN	K	112	.	ENSP00000370055:N112K	N	-	3	2	UBL3	29239410	1.000000	0.71417	0.503000	0.27626	0.995000	0.86356	0.770000	0.26618	-1.518000	0.01778	0.455000	0.32223	AAT	UBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044342.1		-	ENST00000380680.4	Missense_Mutation	SNP	13 : 30341410 - 30341410 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	56
TMED8	283578	broad.mit.edu	37	14	77812773	77812773	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77812773C>T	ENST00000216468.7	-	3	301	c.246G>A	c.(244-246)cgG>cgA	p.R82R		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	82					transport	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CAGTTGCTTTCCGCAGATCTT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	107	107			NA	NA	14		NA											NA				77812773		2203	4300	6503	SO:0001819	synonymous_variant			AK095650	CCDS32125.1	14q24.3	2005-08-26	2005-08-26	2005-01-07		ENSG00000100580	283578	283578			18633	protein-coding gene	gene with protein product			family with sequence similarity 15, member B, transmembrane emp24 domain containing 8	FAM15B	NA		Standard	NM_213601	NM_213601	NA	Approved		uc001xto.1	Q6PL24		ENST00000216468.7:c.246G>A	14.37:g.77812773C>T		NA	B3KTI6|Q3MJB0|Q9P1V9	37	CCDS32125.1																																																																																			TMED8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414100.1		-	ENST00000216468.7	Silent	SNP	14 : 77812773 - 77812773 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	492	78
CLEC14A	161198	broad.mit.edu	37	14	38724293	38724293	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38724293C>T	ENST00000342213.2	-	1	1281	c.935G>A	c.(934-936)aGc>aAc	p.S312N		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	312						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CGGCACGGGGCTGGTTGCAGT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	64	63			NA	NA	14		NA											NA				38724293		2203	4299	6502	SO:0001583	missense				CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435	161198	161198		C-type lectin domain containing	19832	protein-coding gene	gene with protein product			chromosome 14 open reading frame 27	C14orf27	NA		Standard	NM_175060	NM_175060	NA	Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.935G>A	14.37:g.38724293C>T	ENSP00000353013:p.Ser312Asn	NA	Q695G9|Q6PWT6|Q8N5V5	37	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.275745	0.40294	.	.	ENSG00000176435	ENST00000342213;ENST00000546356	T	0.75050	-0.9	3.86	2.96	0.34315	.	.	.	.	.	T	0.64271	0.2583	L	0.32530	0.975	0.09310	N	1	P	0.40731	0.728	B	0.40477	0.33	T	0.55153	-0.8185	9	0.49607	T	0.09	-6.6257	9.6415	0.39842	0.0:0.7883:0.2117:0.0	.	312	Q86T13	CLC14_HUMAN	N	312;77	ENSP00000353013:S312N	ENSP00000353013:S312N	S	-	2	0	CLEC14A	37794044	0.479000	0.25925	0.039000	0.18376	0.008000	0.06430	-0.026000	0.12392	1.192000	0.43071	0.655000	0.94253	AGC	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276729.1		-	ENST00000342213.2	Missense_Mutation	SNP	14 : 38724293 - 38724293 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	926	153
ZNF671	79891	broad.mit.edu	37	19	58232036	58232036	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58232036T>G	ENST00000317398.6	-	4	1513	c.1418A>C	c.(1417-1419)cAc>cCc	p.H473P	AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Missense_Mutation_p.H375P|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTCTCCAGAGTGAACTTTCTG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	114	117			NA	NA	19		NA											NA				58232036		2203	4300	6503	SO:0001583	missense				CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814	79891	79891		Zinc fingers, C2H2-type, -	26279	protein-coding gene	gene with protein product	hypothetical protein FLJ23506				NA	12477932	Standard	NM_024833	NM_024833	NA	Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.1418A>C	19.37:g.58232036T>G	ENSP00000321848:p.His473Pro	NA	A6NF07|Q9H5E9	37	CCDS12961.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.844404	0.51164	.	.	ENSG00000083814	ENST00000317398;ENST00000335820	T;T	0.67698	-0.28;-0.28	1.73	1.73	0.24493	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.82522	0.5055	M	0.92880	3.355	0.37259	D	0.906888	D	0.76494	0.999	D	0.91635	0.999	D	0.84303	0.0506	9	0.87932	D	0	.	7.4287	0.27115	0.0:0.0:0.0:1.0	.	473	Q8TAW3	ZN671_HUMAN	P	473;375	ENSP00000321848:H473P;ENSP00000338670:H375P	ENSP00000321848:H473P	H	-	2	0	ZNF671	62923848	1.000000	0.71417	0.024000	0.17045	0.981000	0.71138	6.306000	0.72810	1.042000	0.40150	0.383000	0.25322	CAC	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466817.1		-	ENST00000317398.6	Missense_Mutation	SNP	19 : 58232036 - 58232036 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	640	118
NPRL3	8131	broad.mit.edu	37	16	150396	150396	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:150396G>A	ENST00000405960.3	-	0	1026				NPRL3_ENST00000399951.3_Silent_p.A68A|NPRL3_ENST00000399953.3_Silent_p.A247A			Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	NA							protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						TCCGTTCGATGGCCTCTGGGG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	43	41			NA	NA	16		NA											NA				150396		2013	4155	6168	SO:0001623	5_prime_UTR_variant				CCDS73794.1, CCDS73795.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000103148	ENSG00000103148	8131	8131			14124	protein-coding gene	gene with protein product	conserved gene telomeric to alpha globin cluster	600928	chromosome 16 open reading frame 35	C16orf35	NA	8575760	Standard	NM_001039476	NM_001243247	NA	Approved	CGTHBA, RMD11, NPR3, MARE, HS-40	uc002cfr.3	Q12980	OTTHUMG00000047792	ENST00000405960.3:c.-1854C>T	16.37:g.150396G>A		NA	D3DU40|Q1W6H0|Q4TT56|Q92469	37																																																																																				NPRL3-015	KNOWN	basic	processed_transcript	NA	protein_coding	OTTHUMT00000467385.1		-	ENST00000405960.3	5'UTR	SNP	16 : 150396 - 150396 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	69	23
UNC45B	146862	broad.mit.edu	37	17	33495173	33495173	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33495173G>T	ENST00000268876.5	+	10	1342	c.1245G>T	c.(1243-1245)caG>caT	p.Q415H	UNC45B_ENST00000591048.1_Missense_Mutation_p.Q415H|UNC45B_ENST00000378449.1_Missense_Mutation_p.Q415H|UNC45B_ENST00000394570.2_Missense_Mutation_p.Q415H|UNC45B_ENST00000433649.1_Missense_Mutation_p.Q415H	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	415					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGGGCAACCAGCTGCTGGGAC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	86	94			NA	NA	17		NA											NA				33495173		2203	4300	6503	SO:0001583	missense			AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161	146862	146862			14304	protein-coding gene	gene with protein product		611220	cardiomyopathy associated 4	CMYA4	NA	12356907	Standard	NM_173167	NM_001267052	NA	Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1245G>T	17.37:g.33495173G>T	ENSP00000268876:p.Gln415His	NA	Q495Q8|Q495Q9	37	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.996034	0.54147	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.47869	1.5;3.48;1.5;0.83	5.02	2.0	0.26442	Armadillo-like helical (1);Armadillo-type fold (1);	0.241992	0.43260	D	0.000585	T	0.41604	0.1166	N	0.14661	0.345	0.37898	D	0.930937	D;P;B	0.61080	0.989;0.701;0.314	P;B;P	0.58820	0.846;0.435;0.447	T	0.40534	-0.9558	10	0.42905	T	0.14	-31.7403	8.7666	0.34706	0.2965:0.0:0.7035:0.0	.	415;415;415	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	H	415	ENSP00000378071:Q415H;ENSP00000268876:Q415H;ENSP00000412840:Q415H;ENSP00000367710:Q415H	ENSP00000268876:Q415H	Q	+	3	2	UNC45B	30519286	0.991000	0.36638	1.000000	0.80357	0.951000	0.60555	1.293000	0.33353	0.834000	0.34852	-0.766000	0.03442	CAG	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256458.2		+	ENST00000268876.5	Missense_Mutation	SNP	17 : 33495173 - 33495173 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	215	43
MYBPC3	4607	broad.mit.edu	37	11	47364609	47364609	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47364609C>T	ENST00000545968.1	-	15	1368	c.1314G>A	c.(1312-1314)gtG>gtA	p.V438V	MYBPC3_ENST00000399249.2_Silent_p.V438V|MYBPC3_ENST00000256993.4_Silent_p.V437V	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	437	Ig-like C2-type 2.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TCTCGCCACCCACCACGCACT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	51	49			NA	NA	11		NA											NA				47364609		2137	4243	6380	SO:0001819	synonymous_variant			X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571	4607	4607		Myosin binding proteins, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	7551	protein-coding gene	gene with protein product		600958	myosin-binding protein C, cardiac	CMH4	NA	7744002, 8358441	Standard		NM_000256	NA	Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.1314G>A	11.37:g.47364609C>T		NA	Q16410|Q6R2F7|Q9UE27|Q9UM53	37	CCDS53621.1																																																																																			MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392271.3		-	ENST00000545968.1	Silent	SNP	11 : 47364609 - 47364609 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	123	17
FAM111A	63901	broad.mit.edu	37	11	58920006	58920006	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58920006A>G	ENST00000528737.1	+	5	3683	c.865A>G	c.(865-867)Acc>Gcc	p.T289A	FAM111A_ENST00000361723.3_Missense_Mutation_p.T289A|FAM111A_ENST00000531147.1_Missense_Mutation_p.T289A|FAM111A_ENST00000420244.1_Missense_Mutation_p.T289A|FAM111A_ENST00000533703.1_Missense_Mutation_p.T289A			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	289					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				GAAAAGAAACACCTGTGTGTT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	48	47			NA	NA	11		NA											NA				58920006		2201	4295	6496	SO:0001583	missense			AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801	63901	63901			24725	protein-coding gene	gene with protein product		615292			NA	11572484, 23996431, 23684011	Standard	NM_022074	NM_022074	NA	Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.865A>G	11.37:g.58920006A>G	ENSP00000434435:p.Thr289Ala	NA	A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	37	CCDS7973.1	.	.	.	.	.	.	.	.	.	.	A	9.447	1.089693	0.20390	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.65	-5.73	0.02398	.	1.275090	0.04949	N	0.459945	T	0.27933	0.0688	L	0.44542	1.39	0.09310	N	1	B	0.15473	0.013	B	0.08055	0.003	T	0.16424	-1.0403	10	0.16896	T	0.51	-9.762	5.2132	0.15329	0.2643:0.1307:0.4914:0.1137	.	289	Q96PZ2	F111A_HUMAN	A	289	ENSP00000434435:T289A;ENSP00000406683:T289A;ENSP00000355264:T289A;ENSP00000433154:T289A;ENSP00000431631:T289A	ENSP00000355264:T289A	T	+	1	0	FAM111A	58676582	0.000000	0.05858	0.000000	0.03702	0.181000	0.23173	-1.516000	0.02250	-1.056000	0.03205	0.528000	0.53228	ACC	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393975.1		+	ENST00000528737.1	Missense_Mutation	SNP	11 : 58920006 - 58920006 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	349	62
LRP1B	53353	broad.mit.edu	37	2	141215049	141215049	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141215049G>T	ENST00000389484.3	-	61	10768	c.9797C>A	c.(9796-9798)tCt>tAt	p.S3266Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3266					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGTCTATAAGAATGATACAC	0.363		NA								TSP Lung(27;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(99;50 2074 2507 20106)							NA				0													162	148	153			NA	NA	2		NA											NA				141215049		2203	4300	6503	SO:0001583	missense			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702	53353	53353		Low density lipoprotein receptors	6693	protein-coding gene	gene with protein product	LRP-deleted in tumors	608766			NA	10766186	Standard	NM_018557	NM_018557	NA	Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9797C>A	2.37:g.141215049G>T	ENSP00000374135:p.Ser3266Tyr	NA	Q8WY29|Q8WY30|Q8WY31	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353362	0.82132	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91577	-2.87	5.46	5.46	0.80206	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.080321	0.52532	U	0.000066	D	0.91798	0.7405	M	0.63428	1.95	0.49915	D	0.999831	P	0.52842	0.956	P	0.48030	0.564	D	0.92527	0.6030	10	0.66056	D	0.02	.	19.3152	0.94208	0.0:0.0:1.0:0.0	.	3266	Q9NZR2	LRP1B_HUMAN	Y	3266;3204	ENSP00000374135:S3266Y	ENSP00000374135:S3266Y	S	-	2	0	LRP1B	140931519	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.835000	0.99442	2.550000	0.86006	0.655000	0.94253	TCT	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254736.2		-	ENST00000389484.3	Missense_Mutation	SNP	2 : 141215049 - 141215049 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	567	159
SPG7	6687	broad.mit.edu	37	16	89619414	89619414	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89619414G>A	ENST00000268704.2	+	14	1822	c.1807G>A	c.(1807-1809)Gcc>Acc	p.A603T		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	603			A -> T.		cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GACAAACGCCGCCCTGGGCTT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA	0,4396		0,0,2198	67	56	60		1807	5.8	0.2	16		60	1,8599	1.2+/-3.3	0,1,4299	no	missense	SPG7	NM_003119.2	58	0,1,6497	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	603/796	89619414	1,12995	2198	4300	6498	SO:0001583	missense			Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912	6687	6687		ATPases / AAA-type	11237	protein-coding gene	gene with protein product	paraplegin	602783	cell matrix adhesion regulator	CMAR	NA	9635427, 9634528	Standard	NM_003119	XM_006721264	NA	Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1807G>A	16.37:g.89619414G>A	ENSP00000268704:p.Ala603Thr	NA	O75756|Q2TB70|Q58F00|Q96IB0	37	CCDS10977.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360229	0.82353	0.0	1.16E-4	ENSG00000197912	ENST00000268704;ENST00000312613	D	0.87103	-2.21	5.84	5.84	0.93424	Peptidase M41 (1);Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	D	0.94082	0.8103	M	0.86864	2.845	0.80722	D	1	D	0.63046	0.992	P	0.61477	0.889	D	0.94351	0.7579	10	0.87932	D	0	1.556	20.1278	0.97990	0.0:0.0:1.0:0.0	.	603	Q9UQ90	SPG7_HUMAN	T	603;193	ENSP00000268704:A603T	ENSP00000268704:A603T	A	+	1	0	SPG7	88146915	1.000000	0.71417	0.206000	0.23566	0.184000	0.23303	7.745000	0.85046	2.768000	0.95171	0.561000	0.74099	GCC	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269921.2		+	ENST00000268704.2	Missense_Mutation	SNP	16 : 89619414 - 89619414 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	206	46
RANBP3	8498	broad.mit.edu	37	19	5928016	5928016	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5928016G>A	ENST00000340578.6	-	9	833	c.776C>T	c.(775-777)gCc>gTc	p.A259V	RANBP3_ENST00000591092.1_Missense_Mutation_p.A186V|RANBP3_ENST00000034275.8_Missense_Mutation_p.A191V|RANBP3_ENST00000541471.1_Missense_Mutation_p.A131V|RANBP3_ENST00000439268.2_Missense_Mutation_p.A254V	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	259					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						AAATACAAAGGCTTGCTGTGT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	132	130			NA	NA	19		NA											NA				5928016		1917	4132	6049	SO:0001583	missense			Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05					8498	8498			9850	protein-coding gene	gene with protein product		603327			NA	9637251	Standard	NM_007322	NM_007322	NA	Approved		uc002mdw.3	Q9H6Z4		ENST00000340578.6:c.776C>T	19.37:g.5928016G>A	ENSP00000341483:p.Ala259Val	NA	B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	37	CCDS42478.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995853	0.54147	.	.	ENSG00000031823	ENST00000340578;ENST00000439268;ENST00000034275;ENST00000324807;ENST00000541471	T;T;T;T	0.32988	1.43;1.43;2.19;1.44	5.4	4.36	0.52297	.	0.243763	0.42294	D	0.000729	T	0.36991	0.0987	L	0.57536	1.79	0.40303	D	0.978638	P;P;P;P;P;P;P	0.51653	0.897;0.911;0.835;0.835;0.897;0.947;0.911	P;B;B;B;P;P;B	0.49853	0.624;0.363;0.363;0.363;0.566;0.566;0.44	T	0.10941	-1.0608	10	0.39692	T	0.17	-13.6051	11.1458	0.48430	0.089:0.0:0.911:0.0	.	131;254;131;186;191;254;259	F5H4C2;Q53GE1;B7Z5P4;B7Z7F3;Q9H6Z4-3;Q9H6Z4-2;Q9H6Z4	.;.;.;.;.;.;RANB3_HUMAN	V	259;254;191;190;131	ENSP00000341483:A259V;ENSP00000404837:A254V;ENSP00000034275:A191V;ENSP00000445071:A131V	ENSP00000034275:A191V	A	-	2	0	RANBP3	5879016	0.890000	0.30428	0.138000	0.22173	0.044000	0.14063	3.779000	0.55379	2.536000	0.85505	0.655000	0.94253	GCC	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452304.1		-	ENST00000340578.6	Missense_Mutation	SNP	19 : 5928016 - 5928016 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	672	144
OLFM1	10439	broad.mit.edu	37	9	137998692	137998692	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137998692C>T	ENST00000371796.3	+	5	807	c.693C>T	c.(691-693)ggC>ggT	p.G231G	OLFM1_ENST00000252854.4_Silent_p.G240G|OLFM1_ENST00000371793.3_Silent_p.G258G	NM_001282612.1	NP_001269541.1	Q99784	NOE1_HUMAN	olfactomedin 1	258	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CCCCTGAAGGCGATAACCGGG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	49	52			NA	NA	9		NA											NA				137998692		2202	4300	6502	SO:0001819	synonymous_variant			AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558	10439	10439			17187	protein-coding gene	gene with protein product	pancortin	605366			NA	9039501	Standard	NM_014279	NM_006334	NA	Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371796.3:c.693C>T	9.37:g.137998692C>T		NA	Q53XZ8|Q6IMJ4|Q969S7|Q99452	37																																																																																				OLFM1-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000054973.1		+	ENST00000371796.3	Silent	SNP	9 : 137998692 - 137998692 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	88	14
MEGF11	84465	broad.mit.edu	37	15	66190303	66190303	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66190303G>A	ENST00000409699.2	-	23	3276	c.3104C>T	c.(3103-3105)gCc>gTc	p.A1035V	MEGF11_ENST00000395625.2_Missense_Mutation_p.A960V|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000422354.1_Missense_Mutation_p.A1035V|MEGF11_ENST00000288745.3_Missense_Mutation_p.A960V			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	1035						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CGGCCCATTGGCAGGGCTCTG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	131	132			NA	NA	15		NA											NA				66190303		2201	4298	6499	SO:0001583	missense			AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890	84465	84465			29635	protein-coding gene	gene with protein product		612454			NA	11347906	Standard	NM_032445	NM_032445	NA	Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.3104C>T	15.37:g.66190303G>A	ENSP00000386908:p.Ala1035Val	NA	Q17R86|Q6UXS5|Q8ND91|Q96KG6	37	CCDS10213.2	.	.	.	.	.	.	.	.	.	.	G	16.63	3.175873	0.57692	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625	D;D;D;D	0.86956	-2.19;-2.07;-2.19;-2.07	5.23	5.23	0.72850	.	0.206026	0.23813	U	0.044314	T	0.81800	0.4899	N	0.22421	0.69	0.80722	D	1	B;B	0.28933	0.146;0.228	B;B	0.30855	0.057;0.121	T	0.80547	-0.1334	10	0.62326	D	0.03	.	17.9876	0.89159	0.0:0.0:1.0:0.0	.	1035;960	A6BM72;A6BM72-2	MEG11_HUMAN;.	V	1035;960;1035;960	ENSP00000386908:A1035V;ENSP00000288745:A960V;ENSP00000414475:A1035V;ENSP00000378987:A960V	ENSP00000288745:A960V	A	-	2	0	MEGF11	63977357	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	4.576000	0.60915	2.713000	0.92767	0.655000	0.94253	GCC	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329307.2		-	ENST00000409699.2	Missense_Mutation	SNP	15 : 66190303 - 66190303 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	527	92
SRRM2	23524	broad.mit.edu	37	16	2812144	2812144	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2812144C>T	ENST00000301740.8	+	11	2164	c.1615C>T	c.(1615-1617)Cga>Tga	p.R539*		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	539	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GTCTCCTCAGCGACCAGGCTG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	49	50			NA	NA	16		NA											NA				2812144		2198	4300	6498	SO:0001587	stop_gained			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978	23524	23524			16639	protein-coding gene	gene with protein product		606032			NA	10668804, 11004489	Standard		NM_016333	NA	Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.1615C>T	16.37:g.2812144C>T	ENSP00000301740:p.Arg539*	NA	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	37	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	37	6.147204	0.97324	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	.	.	.	5.91	1.33	0.21861	.	0.000000	0.51477	D	0.000095	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4156	13.596	0.61991	0.5421:0.4579:0.0:0.0	.	.	.	.	X	539;539;504	.	ENSP00000301740:R539X	R	+	1	2	SRRM2	2752145	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.373000	0.20484	0.330000	0.23485	0.655000	0.94253	CGA	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000436411.1		+	ENST00000301740.8	Nonsense_Mutation	SNP	16 : 2812144 - 2812144 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	322	28
ZC3HAV1L	92092	broad.mit.edu	37	7	138711299	138711299	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138711299G>A	ENST00000275766.1	-	5	905	c.894C>T	c.(892-894)tgC>tgT	p.C298C		NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	298										NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						TTTACTTCTCGCAAGACACTG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	88	89			NA	NA	7		NA											NA				138711299		2203	4300	6503	SO:0001819	synonymous_variant			BC008842	CCDS5850.1	7q34	2006-07-03	2006-07-03	2006-07-03	ENSG00000146858	ENSG00000146858	92092	92092			22423	protein-coding gene	gene with protein product			chromosome 7 open reading frame 39	C7orf39	NA		Standard	NM_080660	NM_080660	NA	Approved	MGC14289	uc003vum.1	Q96H79	OTTHUMG00000157229	ENST00000275766.1:c.894C>T	7.37:g.138711299G>A		NA	Q8WUD9	37	CCDS5850.1																																																																																			ZC3HAV1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348090.1		-	ENST00000275766.1	Silent	SNP	7 : 138711299 - 138711299 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	302	44
GJA5	2702	broad.mit.edu	37	1	147230480	147230480	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147230480G>T	ENST00000271348.2	-	2	1028	c.867C>A	c.(865-867)tcC>tcA	p.S289S	GJA5_ENST00000369237.1_Silent_p.S289S|RP11-433J22.2_ENST00000428911.1_RNA	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	289					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		p.S289S(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			TGTTTTGTTGGGAGGCCATAT	0.532		NA												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)											153	149	150			NA	NA	1		NA											NA				147230480		2203	4300	6503	SO:0001819	synonymous_variant				CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107	2702	2702		Ion channels / Gap junction proteins (connexins)	4279	protein-coding gene	gene with protein product	connexin 40	121013	gap junction protein, alpha 5, 40kD (connexin 40), gap junction protein, alpha 5, 40kDa (connexin 40)		NA		Standard	NM_181703	NM_005266	NA	Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.867C>A	1.37:g.147230480G>T		NA	Q5T3B6|Q5U0N6	37	CCDS929.1																																																																																			GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039422.2		-	ENST00000271348.2	Silent	SNP	1 : 147230480 - 147230480 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	727	155
CDH13	1012	broad.mit.edu	37	16	83378596	83378596	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:83378596G>T	ENST00000268613.10	+	7	1000	c.907G>T	c.(907-909)Gaa>Taa	p.E303*	CDH13_ENST00000566620.1_Nonsense_Mutation_p.E256*|CDH13_ENST00000428848.3_Nonsense_Mutation_p.E217*|CDH13_ENST00000569454.1_3'UTR			P55290	CAD13_HUMAN	cadherin 13	256	Cadherin 2.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CCACGTCATGGAAGGGTCACC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	106	106			NA	NA	16		NA											NA				83378596		1980	4159	6139	SO:0001587	stop_gained			U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945	1012	1012		Cadherins / Major cadherins	1753	protein-coding gene	gene with protein product	T-cadherin, H-cadherin (heart)	601364			NA	8673923, 9468307	Standard	NM_001257	NM_001257	NA	Approved	CDHH	uc010vns.2	P55290		ENST00000268613.10:c.907G>T	16.37:g.83378596G>T	ENSP00000268613:p.Glu303*	NA	Q6GTW4|Q8TBX3	37	CCDS58485.1	.	.	.	.	.	.	.	.	.	.	G	39	7.332772	0.98217	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.8872	0.92383	0.0:0.0:1.0:0.0	.	.	.	.	X	303;256;217	.	ENSP00000268613:E303X	E	+	1	0	CDH13	81936097	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.822000	0.86651	2.882000	0.98803	0.655000	0.94253	GAA	CDH13-009	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432918.1		+	ENST00000268613.10	Nonsense_Mutation	SNP	16 : 83378596 - 83378596 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	471	17
FCGR2A	2212	broad.mit.edu	37	1	161487824	161487824	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161487824C>T	ENST00000271450.6	+	7	878	c.840C>T	c.(838-840)gaC>gaT	p.D280D	FCGR2A_ENST00000486608.1_3'UTR|FCGR2A_ENST00000367972.4_Silent_p.D279D|RP11-25K21.6_ENST00000537821.2_RNA	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	280						integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCAACAATGACTATGAAACAG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	100	100			NA	NA	1		NA											NA				161487824		2203	4300	6503	SO:0001819	synonymous_variant			J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226	2212	2212		CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	3616	protein-coding gene	gene with protein product	Immunoglobulin G Fc receptor II	146790	Fc fragment of IgG, low affinity IIa, receptor for (CD32)	FCG2, FCGR2A1, FCGR2	NA	2139735	Standard	NM_021642	NM_021642	NA	Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.840C>T	1.37:g.161487824C>T		NA	Q8WUN1|Q8WW64	37	CCDS44264.1																																																																																			FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083318.3		+	ENST00000271450.6	Silent	SNP	1 : 161487824 - 161487824 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	481	122
GLMN	11146	broad.mit.edu	37	1	92754605	92754605	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92754605T>C	ENST00000370360.3	-	6	579	c.498A>G	c.(496-498)atA>atG	p.I166M	GLMN_ENST00000534881.1_Missense_Mutation_p.I166M	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	166					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		CATCCATTTGTATTTGTTCTT	0.373		NA							Multiple Glomus Tumors (of the Skin), Familial					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	111	112			NA	NA	1		NA											NA				92754605		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842	11146	11146			14373	protein-coding gene	gene with protein product		601749	venous malformation with glomus cells	VMGLOM	NA	8955134	Standard	NM_007070	XM_005270400	NA	Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.498A>G	1.37:g.92754605T>C	ENSP00000359385:p.Ile166Met	NA	Q5VVC3|Q9BVE8	37	CCDS738.1	.	.	.	.	.	.	.	.	.	.	T	10.71	1.426002	0.25726	.	.	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.42900	0.96;0.96	5.43	-1.13	0.09775	.	0.202236	0.50627	D	0.000107	T	0.10165	0.0249	L	0.27053	0.805	0.35405	D	0.791937	B;B	0.24186	0.099;0.036	B;B	0.29942	0.109;0.034	T	0.04320	-1.0960	10	0.35671	T	0.21	-6.4651	1.6194	0.02710	0.3124:0.1362:0.0946:0.4568	.	166;166	B4DJ85;Q92990	.;GLMN_HUMAN	M	166	ENSP00000359385:I166M;ENSP00000440156:I166M	ENSP00000359385:I166M	I	-	3	3	GLMN	92527193	0.785000	0.28726	0.994000	0.49952	0.740000	0.42216	-0.237000	0.08990	0.341000	0.23771	0.477000	0.44152	ATA	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000028358.1		-	ENST00000370360.3	Missense_Mutation	SNP	1 : 92754605 - 92754605 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	316	26
RABEP1	9135	broad.mit.edu	37	17	5280417	5280417	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5280417C>T	ENST00000546142.2	+	14	2219	c.2032C>T	c.(2032-2034)Cgg>Tgg	p.R678W	RABEP1_ENST00000537505.1_Missense_Mutation_p.R635W|NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000341923.6_Missense_Mutation_p.R678W|RABEP1_ENST00000262477.6_Missense_Mutation_p.R678W|RABEP1_ENST00000408982.2_Missense_Mutation_p.R678W			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	678					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						CCAGGCACTGCGGGAGTTGGT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	134	135			NA	NA	17		NA											NA				5280417		1868	4097	5965	SO:0001583	missense			AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725	9135	9135			17677	protein-coding gene	gene with protein product		603616			NA	8521472	Standard	NM_004703	NM_001291582	NA	Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.2032C>T	17.37:g.5280417C>T	ENSP00000437701:p.Arg678Trp	NA	B2RAG7|O95369|Q8IVX3	37	CCDS45592.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848670	0.91277	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	4.99	4.99	0.66335	Rabaptin, GTPase-Rab5 binding (1);	0.191631	0.48767	D	0.000179	T	0.55529	0.1926	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.999;0.999;0.999;0.998	P;P;P;P;P	0.57679	0.627;0.744;0.825;0.744;0.627	T	0.58719	-0.7587	10	0.87932	D	0	-12.9011	17.8295	0.88677	0.0:1.0:0.0:0.0	.	635;635;671;678;678	F5H355;B4DMM4;Q05BX6;Q15276;Q15276-2	.;.;.;RABE1_HUMAN;.	W	678;678;671;678;678;635	ENSP00000262477:R678W;ENSP00000386150:R678W;ENSP00000437701:R678W;ENSP00000339569:R678W;ENSP00000445408:R635W	ENSP00000262477:R678W	R	+	1	2	RABEP1	5221141	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	7.308000	0.78929	2.760000	0.94817	0.655000	0.94253	CGG	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000439349.1		+	ENST00000546142.2	Missense_Mutation	SNP	17 : 5280417 - 5280417 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	939	193
ZC3H3	23144	broad.mit.edu	37	8	144589969	144589969	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144589969C>T	ENST00000262577.5	-	4	1693	c.1662G>A	c.(1660-1662)ccG>ccA	p.P554P		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	554					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GGGGGAAGGGCGGGGCGCTGA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	57	55			NA	NA	8		NA											NA				144589969		2202	4300	6502	SO:0001819	synonymous_variant			D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164	23144	23144		Zinc fingers, CCCH-type domain containing	28972	protein-coding gene	gene with protein product			zinc finger CCCH-type domain containing 3	ZC3HDC3	NA	8590280	Standard	NM_015117	NM_015117	NA	Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.1662G>A	8.37:g.144589969C>T		NA	Q14163|Q8N4E2|Q9BUS4	37	CCDS6402.1																																																																																			ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382011.2		-	ENST00000262577.5	Silent	SNP	8 : 144589969 - 144589969 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	487	58
RASIP1	54922	broad.mit.edu	37	19	49232824	49232824	+	Silent	SNP	C	C	T	rs147351682		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49232824C>T	ENST00000222145.4	-	5	1407	c.1203G>A	c.(1201-1203)acG>acA	p.T401T	RASIP1_ENST00000594232.1_5'UTR	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	401					signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GCTGCTCTCGCGTCATCACAT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	13	14			NA	NA	19		NA											NA				49232824		2185	4287	6472	SO:0001819	synonymous_variant			BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538	54922	54922			24716	protein-coding gene	gene with protein product		609623			NA	15031288	Standard	NM_017805	NM_017805	NA	Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.1203G>A	19.37:g.49232824C>T		NA	Q6U676	37	CCDS12731.1																																																																																			RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466185.1		-	ENST00000222145.4	Silent	SNP	19 : 49232824 - 49232824 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	78	10
HDAC5	10014	broad.mit.edu	37	17	42161219	42161219	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42161219G>A	ENST00000225983.6	-	17	2635	c.2312C>T	c.(2311-2313)cCc>cTc	p.P771L	HDAC5_ENST00000336057.5_Missense_Mutation_p.P685L|HDAC5_ENST00000393622.2_Missense_Mutation_p.P770L|HDAC5_ENST00000586802.1_Missense_Mutation_p.P770L			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	770	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CTGGCTGATGGGGCCTGCATG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	59	59			NA	NA	17		NA											NA				42161219		2203	4300	6503	SO:0001583	missense			AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					10014	10014	3.5.1.98		14068	protein-coding gene	gene with protein product		605315			NA	10220385, 9610721	Standard	NM_001015053	XM_005256905	NA	Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000225983.6:c.2312C>T	17.37:g.42161219G>A	ENSP00000225983:p.Pro771Leu	NA	C9JFV9|O60340|O60528|Q96DY4	37	CCDS32663.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.657976	0.47467	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.69561	-0.41;-0.41;1.21	5.0	5.0	0.66597	Histone deacetylase domain (2);	0.229124	0.36134	N	0.002771	T	0.56572	0.1994	N	0.01817	-0.705	0.80722	D	1	D;B;B;B	0.63046	0.992;0.0;0.0;0.0	P;B;B;B	0.59643	0.861;0.012;0.003;0.004	T	0.65088	-0.6253	10	0.27785	T	0.31	-17.6981	17.2411	0.87013	0.0:0.0:1.0:0.0	.	685;770;771;770	Q9UQL6-2;B4DGT4;Q9UQL6-3;Q9UQL6	.;.;.;HDAC5_HUMAN	L	771;770;685	ENSP00000225983:P771L;ENSP00000377244:P770L;ENSP00000337290:P685L	ENSP00000225983:P771L	P	-	2	0	HDAC5	39516745	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.382000	0.66213	2.607000	0.88179	0.655000	0.94253	CCC	HDAC5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457683.1		-	ENST00000225983.6	Missense_Mutation	SNP	17 : 42161219 - 42161219 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	435	86
SENP6	26054	broad.mit.edu	37	6	76423282	76423282	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76423282T>C	ENST00000447266.2	+	22	3441	c.2963T>C	c.(2962-2964)gTc>gCc	p.V988A	SENP6_ENST00000370010.2_Missense_Mutation_p.V981A|SENP6_ENST00000541192.1_3'UTR|SENP6_ENST00000370014.3_Missense_Mutation_p.V988A	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	988	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TCAAATGTTGTCAAAATTTTA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	79	81			NA	NA	6		NA											NA				76423282		1804	4068	5872	SO:0001583	missense				CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701	26054	26054			20944	protein-coding gene	gene with protein product		605003	SUMO1/sentrin specific protease 6		NA		Standard	NM_015571	NM_015571	NA	Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.2963T>C	6.37:g.76423282T>C	ENSP00000402527:p.Val988Ala	NA	A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	37	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.089070	0.76756	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000447266	T;T;T	0.32023	1.47;1.47;1.47	4.47	4.47	0.54385	.	0.000000	0.64402	D	0.000006	T	0.37320	0.0999	L	0.45228	1.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.30119	-0.9989	10	0.66056	D	0.02	-9.8692	14.0535	0.64751	0.0:0.0:0.0:1.0	.	981;988	Q9GZR1-2;Q9GZR1	.;SENP6_HUMAN	A	981;988;988	ENSP00000359027:V981A;ENSP00000359031:V988A;ENSP00000402527:V988A	ENSP00000359027:V981A	V	+	2	0	SENP6	76480002	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.731000	0.62022	1.785000	0.52413	0.377000	0.23210	GTC	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041272.2		+	ENST00000447266.2	Missense_Mutation	SNP	6 : 76423282 - 76423282 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	484	79
BRINP1	1620	broad.mit.edu	37	9	122004453	122004453	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:122004453C>T	ENST00000265922.3	-	4	912	c.451G>A	c.(451-453)Gac>Aac	p.D151N	BRINP1_ENST00000373964.2_Missense_Mutation_p.D151N	NM_014618.2	NP_055433.2			bone morphogenetic protein/retinoic acid inducible neural-specific 1	151											NA						GACTTCCTGTCGAGGCGACTT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	109	119			NA	NA	9		NA											NA				122004453		2203	4300	6503	SO:0001583	missense			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725	1620	1620			2687	protein-coding gene	gene with protein product		602865	deleted in bladder cancer chromosome region candidate 1, deleted in bladder cancer 1	DBCCR1, DBC1	NA	9175739, 10444335, 15193422	Standard	NM_014618	NM_014618	NA	Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.451G>A	9.37:g.122004453C>T	ENSP00000265922:p.Asp151Asn	NA		37	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445295	0.83993	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	D;D	0.83755	-1.76;-1.76	5.64	5.64	0.86602	Membrane attack complex component/perforin (MACPF) domain (2);	0.000000	0.85682	D	0.000000	T	0.67804	0.2932	N	0.08118	0	0.80722	D	1	P;P	0.46327	0.876;0.826	B;B	0.34242	0.178;0.151	T	0.72915	-0.4147	10	0.41790	T	0.15	-31.013	20.0666	0.97706	0.0:1.0:0.0:0.0	.	151;151	O60477-2;O60477	.;DBC1_HUMAN	N	151	ENSP00000265922:D151N;ENSP00000363075:D151N	ENSP00000265922:D151N	D	-	1	0	DBC1	121044274	1.000000	0.71417	0.988000	0.46212	0.986000	0.74619	4.881000	0.63114	2.826000	0.97356	0.561000	0.74099	GAC	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055440.2		-	ENST00000265922.3	Missense_Mutation	SNP	9 : 122004453 - 122004453 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	236	24
NOC4L	79050	broad.mit.edu	37	12	132636687	132636687	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132636687C>T	ENST00000330579.1	+	14	1417	c.1376C>T	c.(1375-1377)gCc>gTc	p.A459V	NOC4L_ENST00000538784.1_Missense_Mutation_p.A74V	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	459					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		ATCAACCAGGCCCTGTCCATG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	35	38			NA	NA	12		NA											NA				132636687		2198	4290	6488	SO:0001583	missense				CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967	79050	79050			28461	protein-coding gene	gene with protein product		612819			NA	12446671	Standard	NM_024078	NM_024078	NA	Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.1376C>T	12.37:g.132636687C>T	ENSP00000328854:p.Ala459Val	NA	Q8N2S5|Q96I14	37	CCDS9277.1	.	.	.	.	.	.	.	.	.	.	C	8.870	0.948946	0.18356	.	.	ENSG00000184967	ENST00000330579;ENST00000538784	T;T	0.30448	1.53;1.53	4.59	-2.23	0.06930	.	0.527270	0.19773	N	0.106394	T	0.15305	0.0369	N	0.22421	0.69	0.19300	N	0.999978	B	0.06786	0.001	B	0.06405	0.002	T	0.08106	-1.0738	10	0.41790	T	0.15	-3.0191	5.1389	0.14948	0.1287:0.4935:0.0:0.3778	.	459	Q9BVI4	NOC4L_HUMAN	V	459;74	ENSP00000328854:A459V;ENSP00000443336:A74V	ENSP00000328854:A459V	A	+	2	0	NOC4L	131202640	0.088000	0.21588	0.006000	0.13384	0.280000	0.26924	0.526000	0.22971	-0.980000	0.03524	0.478000	0.44815	GCC	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398999.1		+	ENST00000330579.1	Missense_Mutation	SNP	12 : 132636687 - 132636687 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	213	30
DNAJC1	64215	broad.mit.edu	37	10	22048251	22048251	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22048251C>T	ENST00000376980.3	-	11	1734	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K		NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	482					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				AGGCTCTCCTCGTCGCTGGAC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	100	101			NA	NA	10		NA											NA				22048251		2203	4300	6503	SO:0001583	missense			AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770	64215	64215		Heat shock proteins / DNAJ (HSP40)	20090	protein-coding gene	gene with protein product		611207			NA		Standard	NM_022365	NM_022365	NA	Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.1444G>A	10.37:g.22048251C>T	ENSP00000366179:p.Glu482Lys	NA	B0YIZ8|Q5VX89|Q9H6B8	37	CCDS7136.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035396	0.54896	.	.	ENSG00000136770	ENST00000376980	T	0.65178	-0.14	5.68	5.68	0.88126	.	0.580607	0.19233	N	0.119344	T	0.57475	0.2056	L	0.59436	1.845	0.80722	D	1	D;P	0.59357	0.985;0.824	B;B	0.43155	0.41;0.083	T	0.54125	-0.8340	10	0.15066	T	0.55	-5.0347	13.0501	0.58950	0.0:0.9265:0.0:0.0735	.	203;482	Q96NY3;Q96KC8	.;DNJC1_HUMAN	K	482	ENSP00000366179:E482K	ENSP00000366179:E482K	E	-	1	0	DNAJC1	22088257	0.998000	0.40836	1.000000	0.80357	0.506000	0.33950	4.877000	0.63086	2.697000	0.92050	0.491000	0.48974	GAG	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047149.1		-	ENST00000376980.3	Missense_Mutation	SNP	10 : 22048251 - 22048251 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	719	135
CXCR1	3577	broad.mit.edu	37	2	219029240	219029240	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219029240G>A	ENST00000295683.2	-	2	815	c.695C>T	c.(694-696)gCc>gTc	p.A232V		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	232					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						CCCCATGTGGGCCTTAAACAG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	125	129			NA	NA	2		NA											NA				219029240		2203	4300	6503	SO:0001583	missense			U11870	CCDS2409.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000163464	ENSG00000163464	3577	3577		CD molecules, GPCR / Class A : Chemokine receptors : C-X-C motif, Interleukins and interleukin receptors	6026	protein-coding gene	gene with protein product		146929	interleukin 8 receptor, alpha	CMKAR1, IL8RA	NA	1303245, 1427896	Standard	NM_000634	NM_000634	NA	Approved	CKR-1, CDw128a, CD181	uc002vhc.3	P25024	OTTHUMG00000133108	ENST00000295683.2:c.695C>T	2.37:g.219029240G>A	ENSP00000295683:p.Ala232Val	NA	B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	37	CCDS2409.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615895	0.46631	.	.	ENSG00000163464	ENST00000295683;ENST00000421691	T	0.38560	1.13	4.56	4.56	0.56223	GPCR, rhodopsin-like superfamily (1);	0.108387	0.64402	D	0.000006	T	0.44871	0.1314	L	0.59436	1.845	0.24168	N	0.995634	P	0.38745	0.645	P	0.46419	0.516	T	0.44360	-0.9333	10	0.59425	D	0.04	.	6.8765	0.24149	0.0959:0.18:0.7241:0.0	.	232	P25024	CXCR1_HUMAN	V	232;176	ENSP00000295683:A232V	ENSP00000295683:A232V	A	-	2	0	CXCR1	218737485	1.000000	0.71417	0.995000	0.50966	0.495000	0.33615	6.300000	0.72776	2.210000	0.71456	0.561000	0.74099	GCC	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256773.2		-	ENST00000295683.2	Missense_Mutation	SNP	2 : 219029240 - 219029240 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	916	194
ICAM3	3385	broad.mit.edu	37	19	10444592	10444592	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10444592G>A	ENST00000589261.1	-	7	1886	c.1354C>T	c.(1354-1356)Ccc>Tcc	p.P452S	ICAM3_ENST00000160262.5_Missense_Mutation_p.P529S			P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	529	Ig-like C2-type 5.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			GACGTGAGGGGCAGATAGGTG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													192	166	175			NA	NA	19		NA											NA				10444592		2203	4300	6503	SO:0001583	missense				CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662	3385	3385		CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	5346	protein-coding gene	gene with protein product		146631			NA	1448174	Standard		NM_002162	NA	Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000589261.1:c.1354C>T	19.37:g.10444592G>A	ENSP00000468333:p.Pro452Ser	NA	Q6PD68	37		.	.	.	.	.	.	.	.	.	.	G	19.41	3.822346	0.71028	.	.	ENSG00000076662	ENST00000160262	T	0.02421	4.3	4.48	2.34	0.29019	.	0.722845	0.11948	N	0.513942	T	0.02193	0.0068	L	0.27053	0.805	0.22489	N	0.999056	B	0.33528	0.416	B	0.25884	0.064	T	0.46652	-0.9176	10	0.62326	D	0.03	-9.2889	6.0761	0.19915	0.2378:0.0:0.7622:0.0	.	529	P32942	ICAM3_HUMAN	S	529	ENSP00000160262:P529S	ENSP00000160262:P529S	P	-	1	0	ICAM3	10305592	0.839000	0.29477	0.732000	0.30844	0.568000	0.35870	0.518000	0.22847	0.601000	0.29879	0.561000	0.74099	CCC	ICAM3-005	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000451236.1		-	ENST00000589261.1	Missense_Mutation	SNP	19 : 10444592 - 10444592 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	671	62
FLNA	2316	broad.mit.edu	37	X	153588685	153588685	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153588685C>A	ENST00000344736.4	-	21	3520	c.3478G>T	c.(3478-3480)Gca>Tca	p.A1160S	FLNA_ENST00000369850.3_Missense_Mutation_p.A1160S|FLNA_ENST00000360319.4_Missense_Mutation_p.A1160S|FLNA_ENST00000422373.1_Missense_Mutation_p.A1160S			P21333	FLNA_HUMAN	filamin A, alpha	1160					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACTTTGGATGCGTCAAAGCAG	0.652		NA									OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	58	55			NA	NA	X		NA											NA				153588685		2114	4181	6295	SO:0001583	missense			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924	NA	2316			3754	protein-coding gene	gene with protein product	actin binding protein 280	300017	filamin A, alpha (actin binding protein 280)	FLN1, FLN, OPD2, OPD1	NA	8406501, 12612583	Standard		NM_001456	NA	Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000344736.4:c.3478G>T	X.37:g.153588685C>A	ENSP00000358863:p.Ala1160Ser	1756	Q5HY53|Q5HY55|Q8NF52	37		.	.	.	.	.	.	.	.	.	.	C	7.361	0.624820	0.14193	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12	4.92	3.08	0.35506	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.066241	0.64402	D	0.000014	D	0.88577	0.6474	M	0.72894	2.215	0.20307	N	0.999911	B;B	0.33826	0.427;0.002	B;B	0.43155	0.41;0.018	T	0.80865	-0.1191	10	0.39692	T	0.17	.	14.6502	0.68792	0.0:0.4961:0.5039:0.0	.	1160;1160	P21333-2;P21333	.;FLNA_HUMAN	S	1160;1133;1160;1160;1160	ENSP00000353467:A1160S;ENSP00000416926:A1160S;ENSP00000358866:A1160S;ENSP00000358863:A1160S	ENSP00000358863:A1160S	A	-	1	0	FLNA	153241879	0.015000	0.18098	0.046000	0.18839	0.301000	0.27625	0.391000	0.20784	0.871000	0.35750	0.525000	0.51046	GCA	FLNA-010	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000130295.1		-	ENST00000344736.4	Missense_Mutation	SNP	X : 153588685 - 153588685 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	256	74
CKAP2L	150468	broad.mit.edu	37	2	113513898	113513898	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113513898G>A	ENST00000302450.6	-	4	1128	c.1050C>T	c.(1048-1050)aaC>aaT	p.N350N	CKAP2L_ENST00000541405.1_Silent_p.N185N	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	350						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						CTTGCTTGATGTTTGGATGTC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	157	160			NA	NA	2		NA											NA				113513898		2203	4300	6503	SO:0001819	synonymous_variant			AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607	150468	150468			26877	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152515	NM_152515	NA	Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.1050C>T	2.37:g.113513898G>A		NA	A8K915|Q53QF8|Q53RS8|Q8N1J8	37	CCDS2100.1																																																																																			CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254082.2		-	ENST00000302450.6	Silent	SNP	2 : 113513898 - 113513898 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	770	195
MECOM	2122	broad.mit.edu	37	3	168807822	168807822	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:168807822C>T	ENST00000464456.1	-	13	3976	c.2776G>A	c.(2776-2778)Gcc>Acc	p.A926T	MECOM_ENST00000264674.3_Missense_Mutation_p.A1000T|MECOM_ENST00000433243.2_Missense_Mutation_p.A936T|MECOM_ENST00000472280.1_Missense_Mutation_p.A936T|MECOM_ENST00000460814.1_Missense_Mutation_p.A926T|MECOM_ENST00000392736.3_Missense_Mutation_p.A935T|MECOM_ENST00000494292.1_Missense_Mutation_p.A1114T|MECOM_ENST00000468789.1_Missense_Mutation_p.A935T	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATCTCCAGGGCACTGGTTTCT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													208	196	200			NA	NA	3		NA											NA				168807822		2203	4300	6503	SO:0001583	missense			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276	2122	2122		Zinc fingers, C2H2-type	3498	protein-coding gene	gene with protein product		165215	myelodysplasia syndrome 1, ecotropic viral integration site 1	MDS1, EVI1	NA	2115646, 8171026, 8643684	Standard	NM_005241, NM_004991	NM_001105077	NA	Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2776G>A	3.37:g.168807822C>T	ENSP00000419770:p.Ala926Thr	NA	Q13466|Q6FH90	37	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	4.050	0.006924	0.07866	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.05319	3.5;3.5;3.47;3.6;3.46;3.5;3.47;3.6	5.46	1.75	0.24633	.	1.124900	0.06634	N	0.759856	T	0.07098	0.0180	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.001;0.0;0.001;0.0	B;B;B;B;B	0.06405	0.002;0.002;0.0;0.002;0.001	T	0.42447	-0.9451	10	0.44086	T	0.13	1.011	9.325	0.37988	0.0:0.5529:0.0:0.4471	.	1123;927;1114;1000;935	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	T	1000;935;926;936;1114;935;926;936	ENSP00000264674:A1000T;ENSP00000376493:A935T;ENSP00000419770:A926T;ENSP00000420048:A936T;ENSP00000417899:A1114T;ENSP00000419995:A935T;ENSP00000420466:A926T;ENSP00000394302:A936T	ENSP00000264674:A1000T	A	-	1	0	MECOM	170290516	0.040000	0.19996	0.003000	0.11579	0.000000	0.00434	0.015000	0.13355	0.043000	0.15746	-0.827000	0.03088	GCC	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351519.1		-	ENST00000464456.1	Missense_Mutation	SNP	3 : 168807822 - 168807822 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	653	110
GABRA4	2557	broad.mit.edu	37	4	46930552	46930552	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46930552G>A	ENST00000264318.3	-	9	2337	c.1355C>T	c.(1354-1356)cCa>cTa	p.P452L		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	452					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGAAGCAGATGGAAGTGCTCT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(6;283 369 8234 12290 33402)							NA				0													115	103	107			NA	NA	4		NA											NA				46930552		2203	4300	6503	SO:0001583	missense				CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158	2557	2557		GABA receptors, Ligand-gated ion channels / GABA(A) receptors	4078	protein-coding gene	gene with protein product	GABA(A) receptor, alpha 4	137141			NA	7607683	Standard		NM_000809	NA	Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1355C>T	4.37:g.46930552G>A	ENSP00000264318:p.Pro452Leu	NA	Q8IYR7	37	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	8.906	0.957640	0.18507	.	.	ENSG00000109158	ENST00000264318	D	0.82344	-1.6	5.82	4.08	0.47627	Neurotransmitter-gated ion-channel transmembrane domain (2);	4.163590	0.01097	N	0.005286	T	0.79197	0.4405	L	0.50333	1.59	0.09310	N	0.999999	B	0.06786	0.001	B	0.08055	0.003	T	0.57075	-0.7873	10	0.09084	T	0.74	.	8.5622	0.33518	0.0761:0.0:0.7721:0.1517	.	452	P48169	GBRA4_HUMAN	L	452	ENSP00000264318:P452L	ENSP00000264318:P452L	P	-	2	0	GABRA4	46625309	1.000000	0.71417	0.001000	0.08648	0.001000	0.01503	4.095000	0.57728	0.790000	0.33803	0.650000	0.86243	CCA	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216893.1		-	ENST00000264318.3	Missense_Mutation	SNP	4 : 46930552 - 46930552 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	427	91
SLC7A11	23657	broad.mit.edu	37	4	139163042	139163042	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:139163042C>A	ENST00000280612.5	-	1	461	c.182G>T	c.(181-183)gGa>gTa	p.G61V		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	61					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	GATGAAGATTCCTGCTCCAAT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	116	124			NA	NA	4		NA											NA				139163042		2203	4300	6503	SO:0001583	missense			AB026891	CCDS3742.1	4q28-q32	2013-05-22	2011-07-12		ENSG00000151012	ENSG00000151012	23657	23657		Solute carriers	11059	protein-coding gene	gene with protein product		607933			NA	10206947, 12763038	Standard		XM_005262875	NA	Approved	xCT	uc021xrw.1	Q9UPY5	OTTHUMG00000133396	ENST00000280612.5:c.182G>T	4.37:g.139163042C>A	ENSP00000280612:p.Gly61Val	NA		37	CCDS3742.1	.	.	.	.	.	.	.	.	.	.	C	33	5.240873	0.95272	.	.	ENSG00000151012	ENST00000280612	D	0.92911	-3.13	6.03	6.03	0.97812	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.97788	0.9274	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98196	1.0465	10	0.87932	D	0	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	61	Q9UPY5	XCT_HUMAN	V	61	ENSP00000280612:G61V	ENSP00000280612:G61V	G	-	2	0	SLC7A11	139382492	1.000000	0.71417	0.804000	0.32291	0.976000	0.68499	7.731000	0.84895	2.861000	0.98227	0.655000	0.94253	GGA	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257251.2		-	ENST00000280612.5	Missense_Mutation	SNP	4 : 139163042 - 139163042 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	77
PRR16	51334	broad.mit.edu	37	5	120022128	120022128	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:120022128C>A	ENST00000379551.2	+	3	927	c.570C>A	c.(568-570)taC>taA	p.Y190*	PRR16_ENST00000407149.2_Nonsense_Mutation_p.Y213*|PRR16_ENST00000446965.1_Nonsense_Mutation_p.Y143*|PRR16_ENST00000505123.1_Nonsense_Mutation_p.Y143*	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	213	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		AAGTACAGTACCATGGCTATT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	77	77			NA	NA	5		NA											NA				120022128		2203	4300	6503	SO:0001587	stop_gained			AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838	51334	51334			29654	protein-coding gene	gene with protein product		615931			NA	15971941	Standard	NM_016644	XM_005272010	NA	Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000379551.2:c.570C>A	5.37:g.120022128C>A	ENSP00000368869:p.Tyr190*	NA	D3DSZ0|Q8IXY1|Q9NYI5	37	CCDS4127.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721352	0.68959	.	.	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000505123;ENST00000446965	.	.	.	5.45	4.58	0.56647	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.7253	9.7476	0.40457	0.0:0.8394:0.0:0.1606	.	.	.	.	X	213;190;143;143	.	.	Y	+	3	2	PRR16	120050027	0.999000	0.42202	1.000000	0.80357	0.986000	0.74619	0.677000	0.25262	1.310000	0.45006	-0.143000	0.13931	TAC	PRR16-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250867.2		+	ENST00000379551.2	Nonsense_Mutation	SNP	5 : 120022128 - 120022128 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	274	45
ZMYND19	116225	broad.mit.edu	37	9	140481555	140481555	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140481555G>A	ENST00000298585.2	-	4	449	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W	ZMYND19_ENST00000471957.1_5'UTR	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	75						Golgi apparatus|plasma membrane	zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CCCCGGTGCCGCTCCCTAGAA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG	0,4406		0,0,2203	47	56	53		223	4.2	1	9		53	1,8597	1.2+/-3.3	0,1,4298	no	missense	ZMYND19	NM_138462.2	101	0,1,6501	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	75/228	140481555	1,13003	2203	4299	6502	SO:0001583	missense			BC012948	CCDS7048.1	9q34.3	2008-02-05			ENSG00000165724	ENSG00000165724	116225	116225		Zinc fingers, MYND-type	21146	protein-coding gene	gene with protein product		611424			NA		Standard	NM_138462	NM_138462	NA	Approved	MIZIP	uc004cno.1	Q96E35	OTTHUMG00000020992	ENST00000298585.2:c.223C>T	9.37:g.140481555G>A	ENSP00000298585:p.Arg75Trp	NA	Q5T366	37	CCDS7048.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177643	0.78564	0.0	1.16E-4	ENSG00000165724	ENST00000298585	.	.	.	5.06	4.16	0.48862	.	0.110301	0.64402	D	0.000014	T	0.53530	0.1802	L	0.29908	0.895	0.50171	D	0.999857	D	0.69078	0.997	D	0.63597	0.916	T	0.56541	-0.7962	9	0.87932	D	0	-14.4175	6.0353	0.19704	0.0904:0.0:0.6267:0.2829	.	75	Q96E35	ZMY19_HUMAN	W	75	.	ENSP00000298585:R75W	R	-	1	2	ZMYND19	139601376	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.002000	0.49496	1.355000	0.45865	0.655000	0.94253	CGG	ZMYND19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055356.1		-	ENST00000298585.2	Missense_Mutation	SNP	9 : 140481555 - 140481555 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	654	98
GBP4	115361	broad.mit.edu	37	1	89657065	89657065	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89657065G>A	ENST00000355754.6	-	6	892	c.795C>T	c.(793-795)gaC>gaT	p.D265D		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	265						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		CTGGCACTTCGTCCATATGAT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	113	114			NA	NA	1		NA											NA				89657065		2203	4300	6503	SO:0001819	synonymous_variant			AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654	115361	115361			20480	protein-coding gene	gene with protein product		612466			NA	16689661	Standard	NM_052941	NM_052941	NA	Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.795C>T	1.37:g.89657065G>A		NA	B2R630|Q05D63|Q6NSL0|Q86T99	37	CCDS721.1																																																																																			GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029409.1		-	ENST00000355754.6	Silent	SNP	1 : 89657065 - 89657065 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	437	78
ZNF777	27153	broad.mit.edu	37	7	149129742	149129742	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149129742G>A	ENST00000247930.4	-	6	1944	c.1621C>T	c.(1621-1623)Cgc>Tgc	p.R541C		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CGCTCGCCGCGCCGGTTCCGC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	37	37			NA	NA	7		NA											NA				149129742		2189	4291	6480	SO:0001583	missense			AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453	27153	27153		Zinc fingers, C2H2-type, -	22213	protein-coding gene	gene with protein product					NA		Standard	NM_015694	NM_015694	NA	Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.1621C>T	7.37:g.149129742G>A	ENSP00000247930:p.Arg541Cys	NA	Q8N2R2|Q8N659	37	CCDS43675.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289908	0.59976	.	.	ENSG00000196453	ENST00000247930;ENST00000314683	T	0.05925	3.37	4.59	3.66	0.41972	.	0.143056	0.29293	N	0.012565	T	0.08935	0.0221	L	0.42581	1.335	0.43540	D	0.995839	D	0.60160	0.987	P	0.46825	0.528	T	0.04320	-1.0960	10	0.87932	D	0	-27.4626	11.8466	0.52387	0.0:0.0:0.8254:0.1746	.	541	Q9ULD5-2	.	C	541;284	ENSP00000247930:R541C	ENSP00000247930:R541C	R	-	1	0	ZNF777	148760675	0.020000	0.18652	0.986000	0.45419	0.987000	0.75469	1.327000	0.33746	2.376000	0.81061	0.460000	0.39030	CGC	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352708.1		-	ENST00000247930.4	Missense_Mutation	SNP	7 : 149129742 - 149129742 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	187	34
CFLAR	8837	broad.mit.edu	37	2	202025276	202025276	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202025276C>T	ENST00000309955.3	+	9	1430	c.915C>T	c.(913-915)taC>taT	p.Y305Y	CFLAR_ENST00000423241.2_Silent_p.Y305Y|CFLAR_ENST00000479953.2_Silent_p.Y209Y|CFLAR_ENST00000457277.1_Silent_p.Y305Y|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000443227.1_Silent_p.Y209Y|CFLAR_ENST00000341582.6_Silent_p.Y270Y|CFLAR_ENST00000340870.5_Silent_p.Y305Y	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	NA	Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 propeptide.|Interaction with caspase-8 subunits p18 and p10.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						ACCGAGACTACGACAGCTTTG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(16;548 657 22190 32864 42338)							NA				0													197	176	183			NA	NA	2		NA											NA				202025276		2203	4300	6503	SO:0001819	synonymous_variant			AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402	8837	8837		Endogenous ligands	1876	protein-coding gene	gene with protein product		603599		CASP8AP1	NA	9208847, 9217161	Standard	NM_003879	NM_003879	NA	Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.915C>T	2.37:g.202025276C>T		NA	B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	37	CCDS2337.1																																																																																			CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256276.3		+	ENST00000309955.3	Silent	SNP	2 : 202025276 - 202025276 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	876	82
INPP5E	56623	broad.mit.edu	37	9	139325493	139325493	+	Silent	SNP	C	C	T	rs150464071		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139325493C>T	ENST00000371712.3	-	8	2028	c.1626G>A	c.(1624-1626)acG>acA	p.T542T		NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	542						cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		TGCTGTCGTACGTGTCCTTCC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	245	153	184		1626	-0.8	1	9	dbSNP_134	184	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	INPP5E	NM_019892.4		0,2,6501	TT,TC,CC	NA	0.0233,0.0,0.0154		542/645	139325493	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384	56623	56623			21474	protein-coding gene	gene with protein product		613037	Joubert syndrome 1	JBTS1	NA	10764818, 10577920, 19668216	Standard	NM_019892	NM_019892	NA	Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.1626G>A	9.37:g.139325493C>T		NA	Q15734|Q6PIV5	37	CCDS7000.1																																																																																			INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055058.1		-	ENST00000371712.3	Silent	SNP	9 : 139325493 - 139325493 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	293	57
CCDC114	93233	broad.mit.edu	37	19	48806982	48806982	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48806982C>T	ENST00000315396.7	-	8	1484	c.802G>A	c.(802-804)Gag>Aag	p.E268K		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	268										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		AGGGCGTCCTCGTAGCAAAGC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	87	88			NA	NA	19		NA											NA				48806982		2203	4300	6503	SO:0001583	missense			BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479	93233	93233			26560	protein-coding gene	gene with protein product		615038			NA	23261302, 23261303	Standard	NM_144577	NM_144577	NA	Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.802G>A	19.37:g.48806982C>T	ENSP00000318429:p.Glu268Lys	NA	Q6ZRL4|Q96M06|Q9UFG8	37	CCDS12714.2	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323115	0.41096	.	.	ENSG00000105479	ENST00000315396	T	0.35789	1.29	3.02	1.94	0.25998	.	.	.	.	.	T	0.44623	0.1302	M	0.66378	2.025	0.34629	D	0.719466	D;D;D	0.71674	0.998;0.987;0.995	P;P;P	0.54706	0.676;0.661;0.759	T	0.54788	-0.8241	9	0.34782	T	0.22	-17.9378	7.9692	0.30117	0.0:0.7455:0.2545:0.0	.	61;268;268	Q96M63-4;Q96M63;Q96M63-5	.;CC114_HUMAN;.	K	268	ENSP00000318429:E268K	ENSP00000318429:E268K	E	-	1	0	CCDC114	53498794	0.869000	0.29996	0.482000	0.27366	0.216000	0.24613	1.399000	0.34566	0.583000	0.29574	-0.182000	0.12963	GAG	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343207.1		-	ENST00000315396.7	Missense_Mutation	SNP	19 : 48806982 - 48806982 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	499	121
ABI2	10152	broad.mit.edu	37	2	204231708	204231708	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204231708C>A	ENST00000422511.2	+	2	257	c.226C>A	c.(226-228)Ctg>Atg	p.L76M	ABI2_ENST00000424558.1_Missense_Mutation_p.L76M|ABI2_ENST00000295851.5_Missense_Mutation_p.L76M|ABI2_ENST00000261017.5_Missense_Mutation_p.L76M|ABI2_ENST00000430418.1_Missense_Mutation_p.L76M|ABI2_ENST00000261016.6_Nonsense_Mutation_p.C5*			Q9NYB9	ABI2_HUMAN	abl-interactor 2	76	t-SNARE coiled-coil homology.				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						CCTGCAGATGCTGGATATCCA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	112	118			NA	NA	2		NA											NA				204231708		2203	4300	6503	SO:0001583	missense			AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443	10152	10152			24011	protein-coding gene	gene with protein product		606442			NA	7590236, 10964520	Standard	NM_005759	XM_005246217	NA	Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000422511.2:c.226C>A	2.37:g.204231708C>A	ENSP00000396249:p.Leu76Met	NA	B4DSN1|Q13147|Q13249|Q13801|Q9BV70	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.715171|4.715171	0.89112|0.89112	.|.	.|.	ENSG00000138443|ENSG00000138443	ENST00000261016|ENST00000295851;ENST00000261017;ENST00000430418;ENST00000424558;ENST00000417864;ENST00000422511	.|D;D;D;D;D;D	.|0.92858	.|-3.12;-3.12;-3.12;-3.12;-3.12;-3.12	5.42|5.42	3.29|3.29	0.37713|0.37713	.|Target SNARE coiled-coil domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.93746	.|0.8001	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.67145	.|0.996;0.988;0.971	.|D;P;D	.|0.70716	.|0.965;0.864;0.97	.|D	.|0.92531	.|0.6033	.|10	0.45353|0.42905	T|T	0.12|0.14	-8.6106|-8.6106	10.4872|10.4872	0.44729|0.44729	0.0:0.7672:0.0:0.2328|0.0:0.7672:0.0:0.2328	.|.	.|76;76;76	.|Q9NYB9-4;Q9NYB9;Q9NYB9-2	.|.;ABI2_HUMAN;.	X|M	5|76	.|ENSP00000295851:L76M;ENSP00000261017:L76M;ENSP00000408898:L76M;ENSP00000391433:L76M;ENSP00000414703:L76M;ENSP00000396249:L76M	ENSP00000261016:C5X|ENSP00000261017:L76M	C|L	+|+	3|1	2|2	ABI2|ABI2	203939953|203939953	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.708000|2.708000	0.47152|0.47152	1.293000|1.293000	0.44690|0.44690	0.655000|0.655000	0.94253|0.94253	TGC|CTG	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000336179.2		+	ENST00000422511.2	Missense_Mutation	SNP	2 : 204231708 - 204231708 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	67
RASGRP2	10235	broad.mit.edu	37	11	64504476	64504476	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64504476C>T	ENST00000377494.1	-	8	1766	c.844G>A	c.(844-846)Gcg>Acg	p.A282T	RASGRP2_ENST00000377497.3_Missense_Mutation_p.A282T|RASGRP2_ENST00000354024.3_Missense_Mutation_p.A282T|RASGRP2_ENST00000394432.3_Missense_Mutation_p.A282T			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	282	Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTGCCTGTCGCCGTCACTAGT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	40	40			NA	NA	11		NA											NA				64504476		2201	4297	6498	SO:0001583	missense			U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831	10235	10235		EF-hand domain containing	9879	protein-coding gene	gene with protein product		605577			NA	9789079	Standard	NM_153819	NM_001098670	NA	Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000377494.1:c.844G>A	11.37:g.64504476C>T	ENSP00000366714:p.Ala282Thr	NA	O00538|Q9UL65	37		.	.	.	.	.	.	.	.	.	.	C	14.99	2.699499	0.48307	.	.	ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.12	5.12	0.69794	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.119837	0.56097	D	0.000027	T	0.19725	0.0474	N	0.14661	0.345	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.15052	0.012;0.012	T	0.04140	-1.0974	10	0.87932	D	0	-6.3758	11.5176	0.50532	0.1792:0.8208:0.0:0.0	.	282;282	Q7LDG7;A6NDC7	GRP2_HUMAN;.	T	282	ENSP00000366714:A282T;ENSP00000377953:A282T;ENSP00000366717:A282T;ENSP00000338864:A282T	ENSP00000338864:A282T	A	-	1	0	RASGRP2	64261052	0.993000	0.37304	0.929000	0.37066	0.395000	0.30598	3.158000	0.50723	2.550000	0.86006	0.579000	0.79373	GCG	RASGRP2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000142067.4		-	ENST00000377494.1	Missense_Mutation	SNP	11 : 64504476 - 64504476 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	164	39
DNTTIP2	30836	broad.mit.edu	37	1	94342258	94342258	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94342258G>A	ENST00000436063.2	-	2	1290	c.1233C>T	c.(1231-1233)gaC>gaT	p.D411D	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		CACTGTTCATGTCTTCACTGA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													268	260	263			NA	NA	1		NA											NA				94342258		1991	4152	6143	SO:0001819	synonymous_variant			AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334	30836	30836			24013	protein-coding gene	gene with protein product	acidic 82 kDa protein mRNA	611199			NA	15047147	Standard	NM_014597	NM_014597	NA	Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.1233C>T	1.37:g.94342258G>A		NA	Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	37	CCDS44174.1																																																																																			DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000028317.2		-	ENST00000436063.2	Silent	SNP	1 : 94342258 - 94342258 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1029	247
MAF	4094	broad.mit.edu	37	16	79633606	79633606	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:79633606C>T	ENST00000393350.1	-	1	1005	c.194G>A	c.(193-195)aGc>aAc	p.S65N	MAF_ENST00000326043.4_Missense_Mutation_p.S65N|MAF_ENST00000569649.1_Missense_Mutation_p.S65N	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog	65					transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		GGGCACCGAGCTGCACGGCGT	0.682		NA	T	IGH@	MM									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		16	16q22-q23	4094	v-maf musculoaponeurotic fibrosarcoma oncogene homolog		L	0													16	19	18			NA	NA	16		NA											NA				79633606		2193	4298	6491	SO:0001583	missense				CCDS10928.1, CCDS42198.1	16q22-q23	2013-07-09	2013-07-09		ENSG00000178573	ENSG00000178573	4094	4094			6776	protein-coding gene	gene with protein product		177075			NA	14998484	Standard		NM_005360	NA	Approved	c-MAF	uc002ffm.3	O75444	OTTHUMG00000137621	ENST00000393350.1:c.194G>A	16.37:g.79633606C>T	ENSP00000377019:p.Ser65Asn	NA	Q66I47|Q9UP93	37	CCDS42198.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340061	0.60963	.	.	ENSG00000178573	ENST00000326043;ENST00000393350	D;D	0.98835	-5.17;-5.14	4.11	4.11	0.48088	.	0.000000	0.85682	D	0.000000	D	0.98651	0.9548	L	0.55834	1.745	0.53688	D	0.999975	D;D	0.67145	0.993;0.996	D;D	0.78314	0.979;0.991	D	0.99360	1.0917	10	0.49607	T	0.09	-6.6173	15.9937	0.80225	0.0:1.0:0.0:0.0	.	65;65	O75444;O75444-1	MAF_HUMAN;.	N	65	ENSP00000327048:S65N;ENSP00000377019:S65N	ENSP00000327048:S65N	S	-	2	0	MAF	78191107	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.910000	0.75741	1.830000	0.53286	0.638000	0.83543	AGC	MAF-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317037.1		-	ENST00000393350.1	Missense_Mutation	SNP	16 : 79633606 - 79633606 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	203	34
TCN2	6948	broad.mit.edu	37	22	31011762	31011762	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31011762C>A	ENST00000405742.3	+	6	1096	c.916C>A	c.(916-918)Ctg>Atg	p.L306M	TCN2_ENST00000407817.3_Missense_Mutation_p.L283M|TCN2_ENST00000215838.3_Missense_Mutation_p.L310M	NM_000355.3	NP_000346.2	P20062	TCO2_HUMAN	transcobalamin II	310					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCCAGACTGTCTGGCACCACG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	127	135			NA	NA	22		NA											NA				31011762		2203	4300	6503	SO:0001583	missense				CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339	6948	6948			11653	protein-coding gene	gene with protein product	macrocytic anemia	613441	transcobalamin II; macrocytic anemia		NA	1708393, 7742531	Standard	NM_000355	NM_000355	NA	Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000405742.3:c.916C>A	22.37:g.31011762C>A	ENSP00000385914:p.Leu306Met	NA	Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	37		.	.	.	.	.	.	.	.	.	.	C	15.90	2.969362	0.53614	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.35421	1.31;1.31;1.31	5.33	2.1	0.27182	.	0.995000	0.08159	N	0.988829	T	0.29158	0.0725	N	0.22421	0.69	0.49299	D	0.999773	P;B;B	0.49696	0.927;0.436;0.436	P;B;B	0.45343	0.477;0.189;0.189	T	0.08027	-1.0742	10	0.48119	T	0.1	-1.1978	8.6513	0.34035	0.0:0.6047:0.314:0.0813	.	283;306;310	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	M	310;306;283	ENSP00000215838:L310M;ENSP00000385914:L306M;ENSP00000384914:L283M	ENSP00000215838:L310M	L	+	1	2	TCN2	29341762	0.375000	0.25089	0.993000	0.49108	0.850000	0.48378	0.998000	0.29744	0.883000	0.36040	0.655000	0.94253	CTG	TCN2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000321283.1		+	ENST00000405742.3	Missense_Mutation	SNP	22 : 31011762 - 31011762 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	604	49
KIFAP3	22920	broad.mit.edu	37	1	169890879	169890879	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169890879G>A	ENST00000367765.1	-	20	3698	c.2197C>T	c.(2197-2199)Cgc>Tgc	p.R733C	KIFAP3_ENST00000540905.1_Missense_Mutation_p.R475C|KIFAP3_ENST00000367767.1_Missense_Mutation_p.R729C|KIFAP3_ENST00000361580.2_Missense_Mutation_p.R773C|KIFAP3_ENST00000538366.1_Missense_Mutation_p.R695C	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	773					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTGGCAGGGCGTCCAAGAATG	0.413		NA											G	1	5e-04	NA	NA	2184	NA	1	,	,	NA	2e-04	0.0013	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0													102	87	92			NA	NA	1		NA											NA				169890879		2203	4300	6503	SO:0001583	missense			U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945	22920	22920			17060	protein-coding gene	gene with protein product	Smg GDS	601836			NA	8900189	Standard	NM_014970	NM_014970	NA	Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000367765.1:c.2197C>T	1.37:g.169890879G>A	ENSP00000356739:p.Arg733Cys	NA	B2RDL1|Q8NHU7|Q9H416	37	CCDS55660.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	25.2	4.609773	0.87258	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000540905;ENST00000538366	T;T;T;T;T	0.51817	0.73;0.73;0.73;0.71;0.69	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.35393	0.0930	L	0.27053	0.805	0.80722	D	1	D	0.69078	0.997	P	0.50754	0.649	T	0.03840	-1.0999	9	.	.	.	-6.5391	17.8515	0.88748	0.0:0.0:1.0:0.0	.	773	Q92845	KIFA3_HUMAN	C	773;733;729;475;695	ENSP00000354560:R773C;ENSP00000356739:R733C;ENSP00000356741:R729C;ENSP00000442712:R475C;ENSP00000444622:R695C	.	R	-	1	0	KIFAP3	168157503	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.816000	0.75247	2.736000	0.93811	0.655000	0.94253	CGC	KIFAP3-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087569.1		-	ENST00000367765.1	Missense_Mutation	SNP	1 : 169890879 - 169890879 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	244	33
HECTD4	283450	broad.mit.edu	37	12	112646316	112646316	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112646316G>A	ENST00000550722.1	-	51	7943	c.7548C>T	c.(7546-7548)gaC>gaT	p.D2516D	HECTD4_ENST00000430131.2_Silent_p.D2240D|HECTD4_ENST00000377560.5_Silent_p.D2490D	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4	NA											NA						TGtcatcatcgtcatcatcat	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	111	112			NA	NA	12		NA											NA				112646316		2062	4227	6289	SO:0001819	synonymous_variant			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064	283450	283450			26611	protein-coding gene	gene with protein product			chromosome 12 open reading frame 51	C12orf51	NA	21270382	Standard	NM_173813	NM_001109662	NA	Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000550722.1:c.7548C>T	12.37:g.112646316G>A		NA		37		.	.	.	.	.	.	.	.	.	.	G	8.261	0.811178	0.16537	.	.	ENSG00000173064	ENST00000550968	.	.	.	6.17	-4.34	0.03666	.	.	.	.	.	T	0.63885	0.2549	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64118	-0.6482	4	.	.	.	.	15.2279	0.73364	0.553:0.0:0.447:0.0	.	.	.	.	M	407	.	.	T	-	2	0	C12orf51	111130699	0.000000	0.05858	0.906000	0.35671	0.889000	0.51656	-1.995000	0.01472	-0.793000	0.04475	-0.136000	0.14681	ACG	HECTD4-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000405222.1		-	ENST00000550722.1	Silent	SNP	12 : 112646316 - 112646316 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	352	25
MAPK9	5601	broad.mit.edu	37	5	179676059	179676059	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179676059C>T	ENST00000347470.4	-	6	821	c.530G>A	c.(529-531)tGc>tAc	p.C177Y	MAPK9_ENST00000393360.3_Missense_Mutation_p.C177Y|MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000425491.2_Missense_Mutation_p.C177Y|MAPK9_ENST00000455781.1_Missense_Mutation_p.C177Y|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000343111.6_Missense_Mutation_p.C177Y|MAPK9_ENST00000539014.1_Missense_Mutation_p.C177Y|MAPK9_ENST00000452135.2_Missense_Mutation_p.C177Y			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	177	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|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	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAGTTAGTGCACGCTGTCCG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	156	156			NA	NA	5		NA											NA				179676059		2203	4300	6503	SO:0001583	missense			U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	5601	5601	2.7.11.1	Mitogen-activated protein kinase cascade / Kinases	6886	protein-coding gene	gene with protein product	Jun kinase	602896		PRKM9	NA	8001819	Standard		NM_002752	NA	Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000347470.4:c.530G>A	5.37:g.179676059C>T	ENSP00000321410:p.Cys177Tyr	NA	A8K0S3|B5BU66|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	37		.	.	.	.	.	.	.	.	.	.	C	15.00	2.703293	0.48412	.	.	ENSG00000050748	ENST00000452135;ENST00000393360;ENST00000455781;ENST00000343111;ENST00000347470;ENST00000425491;ENST00000539014	T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	5.59	5.59	0.84812	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.51058	0.1652	N	0.16201	0.385	0.80722	D	1	B;B;B;B;B	0.33612	0.148;0.297;0.297;0.297;0.419	B;B;B;B;B	0.34824	0.015;0.19;0.015;0.015;0.041	T	0.56547	-0.7961	10	0.72032	D	0.01	-16.9108	19.6612	0.95875	0.0:1.0:0.0:0.0	.	177;177;177;177;177	P45984-5;P45984-4;P45984-3;P45984-2;P45984	.;.;.;.;MK09_HUMAN	Y	177	ENSP00000394560:C177Y;ENSP00000377028:C177Y;ENSP00000389338:C177Y;ENSP00000345524:C177Y;ENSP00000321410:C177Y;ENSP00000397422:C177Y;ENSP00000443149:C177Y	ENSP00000345524:C177Y	C	-	2	0	MAPK9	179608665	1.000000	0.71417	0.995000	0.50966	0.294000	0.27393	7.711000	0.84669	2.639000	0.89480	0.650000	0.86243	TGC	MAPK9-006	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000373944.1		-	ENST00000347470.4	Missense_Mutation	SNP	5 : 179676059 - 179676059 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	896	285
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>A	12.37:g.25398284C>T	ENSP00000308495:p.Gly12Asp	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	122	15
NUPL1	9818	broad.mit.edu	37	13	25912815	25912815	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25912815G>A	ENST00000381736.3	+	15	1826	c.1576G>A	c.(1576-1578)Gcc>Acc	p.A526T	NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381718.3_Missense_Mutation_p.A514T	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	526	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		CACCACAGGGGCCTCCACATT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)							NA				0													111	118	116			NA	NA	13		NA											NA				25912815		2203	4300	6503	SO:0001583	missense			AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496	9818	9818			20261	protein-coding gene	gene with protein product		607615			NA	9455477	Standard		NM_014089	NA	Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.1576G>A	13.37:g.25912815G>A	ENSP00000371155:p.Ala526Thr	NA	O43160|Q5JRG2|Q5JRG5	37	CCDS9314.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108680	0.77096	.	.	ENSG00000139496	ENST00000381736;ENST00000313619;ENST00000381718	T;T	0.32753	1.44;1.51	5.65	3.92	0.45320	.	0.306795	0.36778	N	0.002417	T	0.22936	0.0554	L	0.38531	1.155	0.37791	D	0.927377	B;B	0.10296	0.003;0.003	B;B	0.12156	0.007;0.007	T	0.08659	-1.0711	10	0.66056	D	0.02	-3.7116	7.1388	0.25543	0.1416:0.0:0.72:0.1384	.	514;526	A6NI12;Q9BVL2	.;NUPL1_HUMAN	T	526;503;514	ENSP00000371155:A526T;ENSP00000371137:A514T	ENSP00000318459:A503T	A	+	1	0	NUPL1	24810815	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.325000	0.33724	0.754000	0.32968	0.558000	0.71614	GCC	NUPL1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044228.2		+	ENST00000381736.3	Missense_Mutation	SNP	13 : 25912815 - 25912815 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	602	68
SETD6	79918	broad.mit.edu	37	16	58552845	58552845	+	Missense_Mutation	SNP	C	C	T	rs36085499	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58552845C>T	ENST00000394266.4	+	9	1183	c.1127C>T	c.(1126-1128)gCg>gTg	p.A376V	SETD6_ENST00000219315.4_Missense_Mutation_p.A445V|SETD6_ENST00000310682.2_Missense_Mutation_p.A421V			Q8TBK2	SETD6_HUMAN	SET domain containing 6	445					negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						GAAGTCTATGCGAAACTCAGC	0.443		NA											C	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	1	EXOME	NA	NA	3e-04	SNP								NA				0								C	VAL/ALA,VAL/ALA	2,4394	4.2+/-10.8	0,2,2196	101	98	99		1334,1262	4.6	0	16	dbSNP_126	99	27,8573	19.2+/-60.6	0,27,4273	yes	missense,missense	SETD6	NM_001160305.1,NM_024860.2	64,64	0,29,6469	TT,TC,CC	NA	0.314,0.0455,0.2231	possibly-damaging,possibly-damaging	445/474,421/450	58552845	29,12967	2198	4300	6498	SO:0001583	missense			AK024801	CCDS10798.1, CCDS54013.1	16q21	2008-02-05			ENSG00000103037	ENSG00000103037	79918	79918			26116	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024860	NM_024860	NA	Approved	FLJ21148	uc002ens.3	Q8TBK2	OTTHUMG00000150276	ENST00000394266.4:c.1127C>T	16.37:g.58552845C>T	ENSP00000377809:p.Ala376Val	NA	A8K380|B5ME38|Q9H787	37		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	13.81	2.347891	0.41599	4.55E-4	0.00314	ENSG00000103037	ENST00000310682;ENST00000394266;ENST00000219315	T;T;T	0.28454	1.61;1.61;1.61	5.56	4.61	0.57282	Rubisco LS methyltransferase, substrate-binding domain (2);	0.343478	0.32819	N	0.005613	T	0.34658	0.0905	M	0.61703	1.905	0.09310	N	0.999998	P;P	0.51240	0.943;0.878	P;B	0.47528	0.549;0.183	T	0.18999	-1.0319	10	0.31617	T	0.26	-14.1913	9.0703	0.36488	0.1556:0.7657:0.0:0.0787	rs36085499	445;421	Q8TBK2;Q8TBK2-2	SETD6_HUMAN;.	V	421;376;445	ENSP00000310082:A421V;ENSP00000377809:A376V;ENSP00000219315:A445V	ENSP00000219315:A445V	A	+	2	0	SETD6	57110346	0.000000	0.05858	0.007000	0.13788	0.250000	0.25880	0.250000	0.18235	1.334000	0.45468	0.655000	0.94253	GCG	SETD6-006	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000317277.2		+	ENST00000394266.4	Missense_Mutation	SNP	16 : 58552845 - 58552845 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	374	61
NRD1	4898	broad.mit.edu	37	1	52299774	52299774	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52299774C>A	ENST00000354831.7	-	6	1174	c.985G>T	c.(985-987)Ggt>Tgt	p.G329C	NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Missense_Mutation_p.G129C|NRD1_ENST00000352171.7_Missense_Mutation_p.G261C|NRD1_ENST00000539524.1_Missense_Mutation_p.G197C	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	260					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TTATCACTACCCCCATGCTTC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	158	161			NA	NA	1		NA											NA				52299774		2203	4300	6503	SO:0001583	missense			X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618	4898	4898			7995	protein-coding gene	gene with protein product		602651			NA	9581555, 9479496	Standard	NM_002525	NM_002525	NA	Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.985G>T	1.37:g.52299774C>A	ENSP00000346890:p.Gly329Cys	NA	A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	37	CCDS559.1	.	.	.	.	.	.	.	.	.	.	C	32	5.109090	0.94292	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	5.97	5.97	0.96955	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70098	0.3185	H	0.98111	4.15	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.81129	-0.1073	10	0.87932	D	0	-14.0013	20.4238	0.99064	0.0:1.0:0.0:0.0	.	261;260;329	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	C	261;329;197;261;129	ENSP00000262679:G261C;ENSP00000346890:G329C;ENSP00000444416:G197C;ENSP00000442262:G129C	ENSP00000262679:G261C	G	-	1	0	NRD1	52072362	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.416000	0.80143	2.834000	0.97654	0.650000	0.86243	GGT	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000023045.1		-	ENST00000354831.7	Missense_Mutation	SNP	1 : 52299774 - 52299774 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	587	99
ZCCHC8	55596	broad.mit.edu	37	12	122958687	122958687	+	Missense_Mutation	SNP	G	G	A	rs111823200		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122958687G>A	ENST00000543897.1	-	12	3122	c.767C>T	c.(766-768)cCg>cTg	p.P256L	ZCCHC8_ENST00000536306.1_Missense_Mutation_p.P256L|ZCCHC8_ENST00000336229.4_Missense_Mutation_p.P494L|ZCCHC8_ENST00000538116.1_Missense_Mutation_p.P105L			Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	494						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GGGAGTCAGCGGCGGGGTGCC	0.577		NA											G	4	0.0018	0.01	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0019	0.9882	LOWCOV	NA	NA	3e-04	SNP								NA				0								G	LEU/PRO	31,4269		1,29,2120	51	59	56		1481	5.1	0.1	12	dbSNP_132	56	0,8542		0,0,4271	yes	missense	ZCCHC8	NM_017612.3	98	1,29,6391	AA,AG,GG	NA	0.0,0.7209,0.2414	probably-damaging	494/708	122958687	31,12811	2150	4271	6421	SO:0001583	missense			BC017704		12q24.31	2014-04-14				ENSG00000033030	55596	55596		Zinc fingers, CCHC domain containing	25265	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_017612	XM_005253581	NA	Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000543897.1:c.767C>T	12.37:g.122958687G>A	ENSP00000438993:p.Pro256Leu	NA	Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	37		4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	24.5	4.536879	0.85812	0.007209	0.0	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000538116;ENST00000542892	T;T;T;T	0.57436	0.73;0.73;0.7;0.4	5.96	5.07	0.68467	.	0.047509	0.85682	D	0.000000	T	0.44244	0.1284	M	0.74258	2.255	0.80722	D	1	B	0.32128	0.357	B	0.20577	0.03	T	0.54754	-0.8246	10	0.66056	D	0.02	-8.9204	15.2854	0.73826	0.0671:0.0:0.9328:0.0	.	494	Q6NZY4	ZCHC8_HUMAN	L	256;256;494;105;105	ENSP00000441423:P256L;ENSP00000438993:P256L;ENSP00000337313:P494L;ENSP00000440028:P105L	ENSP00000337313:P494L	P	-	2	0	ZCCHC8	121524640	1.000000	0.71417	0.090000	0.20809	0.751000	0.42716	6.898000	0.75676	1.531000	0.49152	0.650000	0.86243	CCG	ZCCHC8-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000401467.1		-	ENST00000543897.1	Missense_Mutation	SNP	12 : 122958687 - 122958687 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	74
TOMM70A	9868	broad.mit.edu	37	3	100103350	100103350	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100103350T>A	ENST00000284320.5	-	4	1156	c.708A>T	c.(706-708)ggA>ggT	p.G236G		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	236					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						CTTTCTCTTTTCCAAGGAGTT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	125	125			NA	NA	3		NA											NA				100103350		2202	4300	6502	SO:0001819	synonymous_variant			AB018262	CCDS33807.1	3q12.2	2013-01-10	2006-04-04		ENSG00000154174	ENSG00000154174	9868	9868		Tetratricopeptide (TTC) repeat domain containing	11985	protein-coding gene	gene with protein product		606081	translocase of outer mitochondrial membrane 70 (yeast) homolog A, translocase of outer mitochondrial membrane 70 homolog A (yeast)		NA	10582581	Standard		NM_014820	NA	Approved	KIAA0719	uc003dtw.3	O94826	OTTHUMG00000159065	ENST00000284320.5:c.708A>T	3.37:g.100103350T>A		NA	D3DN48	37	CCDS33807.1																																																																																			TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353141.2		-	ENST00000284320.5	Silent	SNP	3 : 100103350 - 100103350 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	467	74
SETBP1	26040	broad.mit.edu	37	18	42531860	42531860	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:42531860C>T	ENST00000282030.5	+	4	2851	c.2555C>T	c.(2554-2556)aCg>aTg	p.T852M		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	852						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAGGAAATCACGCTGTCCCCT	0.562		NA							Schinzel-Giedion syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	60	69			NA	NA	18		NA											NA				42531860		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217	26040	26040			15573	protein-coding gene	gene with protein product		611060			NA	11231286	Standard	NM_001130110	NM_015559	NA	Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2555C>T	18.37:g.42531860C>T	ENSP00000282030:p.Thr852Met	NA	A6H8W5|Q6P6C3|Q9UEF3	37	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	C	18.48	3.634191	0.67130	.	.	ENSG00000152217	ENST00000282030	D	0.91124	-2.79	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.93374	0.7887	L	0.34521	1.04	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	D	0.93393	0.6753	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	852	Q9Y6X0	SETBP_HUMAN	M	852	ENSP00000282030:T852M	ENSP00000282030:T852M	T	+	2	0	SETBP1	40785858	1.000000	0.71417	0.738000	0.30950	0.992000	0.81027	6.065000	0.71176	2.941000	0.99782	0.655000	0.94253	ACG	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255854.4		+	ENST00000282030.5	Missense_Mutation	SNP	18 : 42531860 - 42531860 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	254	35
AGO1	26523	broad.mit.edu	37	1	36359359	36359359	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36359359C>T	ENST00000373204.4	+	5	810	c.597C>T	c.(595-597)ggC>ggT	p.G199G	AGO1_ENST00000373206.1_Silent_p.G124G	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1	NA											NA						TCTGGTTCGGCTTTCACCAGT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	65	66			NA	NA	1		NA											NA				36359359		2203	4300	6503	SO:0001819	synonymous_variant			AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847	26523	26523		Argonaute/PIWI family	3262	protein-coding gene	gene with protein product	argonaute 1	606228	eukaryotic translation initiation factor 2C, 1	EIF2C1	NA	10534406, 12906857	Standard		NM_012199	NA	Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.597C>T	1.37:g.36359359C>T		NA		37	CCDS398.1																																																																																			AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019337.3		+	ENST00000373204.4	Silent	SNP	1 : 36359359 - 36359359 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	375	32
TTN	7273	broad.mit.edu	37	2	179593619	179593619	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179593619T>G	ENST00000589042.1	-	65	19370	c.19146A>C	c.(19144-19146)caA>caC	p.Q6382H	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.Q5138H|TTN_ENST00000591111.1_Splice_Site_p.Q6065H|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6065	Ig-like 45.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTACAAACCTTGTACTAAAA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	65	67			NA	NA	2		NA											NA				179593619		1903	4134	6037	SO:0001630	splice_region_variant			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.19147+1A>C	2.37:g.179593619T>G		NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	T	12.02	1.811439	0.32053	.	.	ENSG00000155657	ENST00000342992	T	0.41758	0.99	5.63	5.63	0.86233	Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55752	0.1940	L	0.43757	1.38	0.80722	D	1	D	0.71674	0.998	D	0.64042	0.921	T	0.58364	-0.7649	9	0.87932	D	0	.	16.1485	0.81594	0.0:0.0:0.0:1.0	.	6065	Q8WZ42	TITIN_HUMAN	H	5138	ENSP00000343764:Q5138H	ENSP00000343764:Q5138H	Q	-	3	2	TTN	179301864	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.997000	0.88414	2.281000	0.76405	0.533000	0.62120	CAA	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2	Missense_Mutation	-	ENST00000589042.1	Splice_Site	SNP	2 : 179593619 - 179593619 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	66
MYBPC1	4604	broad.mit.edu	37	12	102056307	102056307	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102056307G>T	ENST00000549145.1	+	20	2268	c.2168G>T	c.(2167-2169)aGg>aTg	p.R723M	MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R710M|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R691M|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R710M|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R735M|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R735M|MYBPC1_ENST00000550270.1_Missense_Mutation_p.R710M|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R710M|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R696M|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R611M|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R684M|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R710M|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R710M|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R697M|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R698M			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	710	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ATGCCCTCCAGGCCTTTTGTT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	106	108			NA	NA	12		NA											NA				102056307		2203	4300	6503	SO:0001583	missense				CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091	4604	4604		Myosin binding proteins, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	7549	protein-coding gene	gene with protein product		160794	myosin-binding protein C, slow-type		NA	8375400, 16918501	Standard		NM_002465	NA	Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000549145.1:c.2168G>T	12.37:g.102056307G>T	ENSP00000447660:p.Arg723Met	NA	Q15497|Q569K7|Q8N3L2	37		.	.	.	.	.	.	.	.	.	.	G	14.48	2.549241	0.45383	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58	6.01	-1.08	0.09936	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.491893	0.18148	N	0.150193	T	0.46328	0.1387	N	0.25992	0.78	0.32516	N	0.536896	P;P;B;B;B;B;P;B;P;P	0.38767	0.489;0.646;0.239;0.335;0.335;0.228;0.465;0.335;0.623;0.465	B;B;B;B;B;B;P;B;B;P	0.48189	0.375;0.305;0.139;0.264;0.367;0.192;0.501;0.367;0.353;0.57	T	0.57952	-0.7722	10	0.87932	D	0	.	10.9076	0.47088	0.6988:0.0:0.3012:0.0	.	691;698;710;710;697;684;710;710;735;735	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	M	684;710;710;710;697;696;735;723;710;735;710;691;698;735;611;710	ENSP00000448175:R684M;ENSP00000400908:R710M;ENSP00000388989:R710M;ENSP00000353822:R710M;ENSP00000376665:R697M;ENSP00000447362:R696M;ENSP00000354845:R735M;ENSP00000447660:R723M;ENSP00000447900:R710M;ENSP00000440034:R710M;ENSP00000446128:R691M;ENSP00000442847:R698M;ENSP00000354849:R735M;ENSP00000447116:R611M;ENSP00000449702:R710M	ENSP00000353822:R710M	R	+	2	0	MYBPC1	100580438	1.000000	0.71417	0.980000	0.43619	0.987000	0.75469	2.420000	0.44679	-0.348000	0.08286	-0.300000	0.09419	AGG	MYBPC1-013	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000408273.2		+	ENST00000549145.1	Missense_Mutation	SNP	12 : 102056307 - 102056307 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	464	97
KIAA0947	0	broad.mit.edu	37	5	5489440	5489440	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5489440C>T	ENST00000296564.7	+	19	7020	c.6798C>T	c.(6796-6798)ggC>ggT	p.G2266G		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN		2266										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AGGAGCTTGGCTGACCTGGGA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	37	36			NA	NA	5		NA											NA				5489440		2059	4207	6266	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000296564.7:c.6798C>T	5.37:g.5489440C>T		NA	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	37	CCDS47187.1																																																																																			KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365575.1		+	ENST00000296564.7	Silent	SNP	5 : 5489440 - 5489440 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	96	15
CBX2	84733	broad.mit.edu	37	17	77757883	77757883	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77757883T>G	ENST00000310942.4	+	5	745	c.641T>G	c.(640-642)cTg>cGg	p.L214R		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	214					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTGGCAGCTCTGAAGGCCCAC	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	20	18			NA	NA	17		NA											NA				77757883		2160	4263	6423	SO:0001583	missense			BC004252, BG354579	CCDS11764.1, CCDS32757.1	17q25.3	2010-07-06	2010-06-24		ENSG00000173894	ENSG00000173894	84733	84733			1552	protein-coding gene	gene with protein product	Pc class homolog (Drosophila)	602770	chromobox homolog 2 (Drosophila Pc class), cell division cycle associated 6	CDCA6	NA	7782071, 2477932	Standard	NM_032647	NM_005189	NA	Approved	MGC10561	uc002jxc.3	Q14781		ENST00000310942.4:c.641T>G	17.37:g.77757883T>G	ENSP00000308750:p.Leu214Arg	NA	Q0VDA5|Q9BTB1	37	CCDS32757.1	.	.	.	.	.	.	.	.	.	.	T	17.26	3.345067	0.61073	.	.	ENSG00000173894	ENST00000310942	.	.	.	5.47	5.47	0.80525	.	1.293620	0.04930	N	0.456680	T	0.65196	0.2668	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.52631	-0.8550	9	0.08837	T	0.75	-1.1594	15.206	0.73180	0.0:0.0:0.0:1.0	.	214	Q14781	CBX2_HUMAN	R	214	.	ENSP00000308750:L214R	L	+	2	0	CBX2	75372478	1.000000	0.71417	0.990000	0.47175	0.897000	0.52465	2.464000	0.45067	2.083000	0.62718	0.533000	0.62120	CTG	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437040.1		+	ENST00000310942.4	Missense_Mutation	SNP	17 : 77757883 - 77757883 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	287	63
APOB	338	broad.mit.edu	37	2	21245781	21245781	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21245781G>T	ENST00000233242.1	-	18	2865	c.2738C>A	c.(2737-2739)gCt>gAt	p.A913D		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	913	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGCAACATGAGCCTCCAGACC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	75	78			NA	NA	2		NA											NA				21245781		2203	4300	6503	SO:0001583	missense			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674	338	338		Apolipoproteins	603	protein-coding gene	gene with protein product		107730	apolipoprotein B (including Ag(x) antigen)		NA		Standard		NM_000384	NA	Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2738C>A	2.37:g.21245781G>T	ENSP00000233242:p.Ala913Asp	NA	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.780221	0.70222	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.19669	2.13	5.51	3.72	0.42706	Lipid transport protein, beta-sheet shell (1);Vitellinogen, open beta-sheet (1);Vitellinogen, open beta-sheet, subdomain 2 (1);	0.321319	0.26474	N	0.024168	T	0.40546	0.1121	M	0.74881	2.28	0.80722	D	1	D	0.69078	0.997	D	0.65874	0.939	T	0.22138	-1.0225	10	0.87932	D	0	.	7.7883	0.29106	0.1421:0.1333:0.7247:0.0	.	913	P04114	APOB_HUMAN	D	913	ENSP00000233242:A913D	ENSP00000233242:A913D	A	-	2	0	APOB	21099286	1.000000	0.71417	0.619000	0.29118	0.916000	0.54674	3.676000	0.54612	0.823000	0.34589	0.655000	0.94253	GCT	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207571.1		-	ENST00000233242.1	Missense_Mutation	SNP	2 : 21245781 - 21245781 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	321	30
F2RL2	2151	broad.mit.edu	37	5	75914417	75914417	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75914417T>A	ENST00000504899.1	-	2	167	c.49A>T	c.(49-51)Acc>Tcc	p.T17S	IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000396234.3_Intron|F2RL2_ENST00000296641.4_Missense_Mutation_p.T39S|IQGAP2_ENST00000274364.6_Intron	NM_001256566.1	NP_001243495.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	39					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		CCACGAAAGGTCTTAATGGGT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	91	88			NA	NA	5		NA											NA				75914417		2186	4293	6479	SO:0001583	missense			U92971	CCDS4031.1, CCDS58959.1	5q13	2012-08-08			ENSG00000164220	ENSG00000164220	2151	2151		GPCR / Class A : Protease activated receptors	3539	protein-coding gene	gene with protein product	proteinase-activated receptor-3	601919			NA	9087410, 9722561	Standard		NM_004101	NA	Approved	PAR3	uc003kem.4	O00254	OTTHUMG00000102119	ENST00000504899.1:c.49A>T	5.37:g.75914417T>A	ENSP00000426703:p.Thr17Ser	NA	B2R754|Q52M68|Q7Z3W3	37	CCDS58959.1	.	.	.	.	.	.	.	.	.	.	T	11.76	1.736183	0.30774	.	.	ENSG00000164220	ENST00000296641;ENST00000504899	T;T	0.65178	-0.14;-0.08	4.65	3.42	0.39159	.	0.067630	0.56097	N	0.000031	T	0.44519	0.1297	L	0.28458	0.855	0.26358	N	0.977094	B	0.23891	0.093	B	0.23150	0.044	T	0.23797	-1.0178	10	0.14252	T	0.57	-10.413	8.9959	0.36052	0.165:0.0:0.0:0.835	.	39	O00254	PAR3_HUMAN	S	39;17	ENSP00000296641:T39S;ENSP00000426703:T17S	ENSP00000296641:T39S	T	-	1	0	F2RL2	75950173	1.000000	0.71417	0.316000	0.25252	0.700000	0.40528	1.729000	0.38115	0.595000	0.29777	0.460000	0.39030	ACC	F2RL2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368874.1		-	ENST00000504899.1	Missense_Mutation	SNP	5 : 75914417 - 75914417 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	494	104
COL15A1	1306	broad.mit.edu	37	9	101748190	101748190	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101748190G>T	ENST00000375001.3	+	3	867	c.444G>T	c.(442-444)gaG>gaT	p.E148D		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	148	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TGTCCCAAGAGGCTGCTGCCT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	102	104			NA	NA	9		NA											NA				101748190		2203	4300	6503	SO:0001583	missense			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291	1306	1306		Proteoglycans / Extracellular Matrix : Collagen proteoglycans, Collagens	2192	protein-coding gene	gene with protein product	collagen type XV proteoglycan	120325			NA	1427836	Standard	NM_001855	NM_001855	NA	Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.444G>T	9.37:g.101748190G>T	ENSP00000364140:p.Glu148Asp	NA	Q5T6J4|Q9UDC5|Q9Y4W4	37	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377008	0.42105	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	T	0.73258	-0.73	5.25	2.34	0.29019	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.288347	0.37261	N	0.002174	T	0.79311	0.4424	M	0.79475	2.455	0.33746	D	0.620079	D;D	0.76494	0.998;0.999	D;D	0.79784	0.993;0.992	T	0.79017	-0.1975	10	0.19147	T	0.46	-12.1142	8.0718	0.30693	0.3319:0.0:0.6681:0.0	.	148;118	P39059;B3KTP7	COFA1_HUMAN;.	D	148;118	ENSP00000364140:E148D	ENSP00000364140:E148D	E	+	3	2	COL15A1	100788011	0.660000	0.27420	0.955000	0.39395	0.740000	0.42216	-0.118000	0.10692	0.280000	0.22209	0.650000	0.86243	GAG	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053386.3		+	ENST00000375001.3	Missense_Mutation	SNP	9 : 101748190 - 101748190 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	734	64
ZNF860	344787	broad.mit.edu	37	3	32031577	32031577	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32031577C>T	ENST00000360311.4	+	2	1555	c.1006C>T	c.(1006-1008)Cat>Tat	p.H336Y		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						TAGGAGAATTCATACTGGAGA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	31	31			NA	NA	3		NA											NA				32031577		692	1591	2283	SO:0001583	missense			AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385	344787	344787		Zinc fingers, C2H2-type, -	34513	protein-coding gene	gene with protein product					NA		Standard		NM_001137674	NA	Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.1006C>T	3.37:g.32031577C>T	ENSP00000373274:p.His336Tyr	NA	B4DFA4	37	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187981	0.57909	.	.	ENSG00000197385	ENST00000360311	T	0.67523	-0.27	0.345	0.345	0.16011	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.67859	0.2938	M	0.89904	3.07	0.25865	N	0.983776	P	0.50369	0.934	B	0.40864	0.342	T	0.63171	-0.6697	8	.	.	.	.	6.4437	0.21865	0.0:0.9998:0.0:2.0E-4	.	336	A6NHJ4	ZN860_HUMAN	Y	336	ENSP00000373274:H336Y	.	H	+	1	0	ZNF860	32006581	0.999000	0.42202	0.537000	0.28052	0.518000	0.34316	5.264000	0.65513	0.392000	0.25172	0.393000	0.25936	CAT	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341957.1		+	ENST00000360311.4	Missense_Mutation	SNP	3 : 32031577 - 32031577 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	228	35
NAGLU	4669	broad.mit.edu	37	17	40695928	40695928	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40695928C>T	ENST00000225927.2	+	6	2005	c.1904C>T	c.(1903-1905)gCc>gTc	p.A635V	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	635						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	GAGGCCGAGGCCGATTTCTAC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	21	22			NA	NA	17		NA											NA				40695928		2202	4296	6498	SO:0001583	missense				CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	4669	4669	3.2.1.50		7632	protein-coding gene	gene with protein product	Sanfilippo disease IIIB	609701			NA		Standard	NM_000263	XM_006721920	NA	Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.1904C>T	17.37:g.40695928C>T	ENSP00000225927:p.Ala635Val	NA		37	CCDS11427.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469090	0.63625	.	.	ENSG00000108784	ENST00000225927;ENST00000377405	D	0.98717	-5.09	4.69	2.56	0.30785	Alpha-N-acetylglucosaminidase, C-terminal (1);	0.109437	0.64402	D	0.000007	D	0.98235	0.9416	M	0.73962	2.25	0.47547	D	0.999454	D	0.52996	0.957	P	0.52823	0.71	D	0.96897	0.9657	10	0.30078	T	0.28	-17.0091	13.5916	0.61964	0.0:0.7022:0.2978:0.0	.	635	P54802	ANAG_HUMAN	V	635;311	ENSP00000225927:A635V	ENSP00000225927:A635V	A	+	2	0	NAGLU	37949454	1.000000	0.71417	0.830000	0.32933	0.741000	0.42261	4.670000	0.61583	0.633000	0.30452	0.561000	0.74099	GCC	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450385.1		+	ENST00000225927.2	Missense_Mutation	SNP	17 : 40695928 - 40695928 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	96	13
TAF2	6873	broad.mit.edu	37	8	120795700	120795700	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120795700C>T	ENST00000378164.2	-	16	2331	c.2033G>A	c.(2032-2034)cGg>cAg	p.R678Q		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	678					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GAGTGCAAGCCGAGATGCTGG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	117	117			NA	NA	8		NA											NA				120795700		2203	4300	6503	SO:0001583	missense			AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313	6873	6873			11536	protein-coding gene	gene with protein product		604912	TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD	TAF2B	NA	9774672, 9418870	Standard	NM_003184	NM_003184	NA	Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.2033G>A	8.37:g.120795700C>T	ENSP00000367406:p.Arg678Gln	NA	B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	37	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	C	35	5.423498	0.96111	.	.	ENSG00000064313	ENST00000378164	T	0.50277	0.75	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.54029	0.1833	L	0.42245	1.32	0.80722	D	1	D	0.64830	0.994	P	0.50659	0.647	T	0.45498	-0.9257	10	0.40728	T	0.16	-38.7402	20.6593	0.99626	0.0:1.0:0.0:0.0	.	678	Q6P1X5	TAF2_HUMAN	Q	678	ENSP00000367406:R678Q	ENSP00000367406:R678Q	R	-	2	0	TAF2	120864881	1.000000	0.71417	0.834000	0.33040	0.980000	0.70556	7.789000	0.85783	2.885000	0.99019	0.655000	0.94253	CGG	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381436.1		-	ENST00000378164.2	Missense_Mutation	SNP	8 : 120795700 - 120795700 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	587	112
LYPLAL1	127018	broad.mit.edu	37	1	219366593	219366593	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:219366593G>T	ENST00000366928.5	+	3	408	c.361G>T	c.(361-363)Gga>Tga	p.G121*	LYPLAL1_ENST00000366927.3_Splice_Site_p.G105*|LYPLAL1_ENST00000483635.1_3'UTR	NM_138794.3	NP_620149	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	121						cytoplasm	lysophospholipase activity			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		GATATTAATAGGTAAGACCTT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	68	68			NA	NA	1		NA											NA				219366593		2203	4299	6502	SO:0001630	splice_region_variant			BC016711	CCDS1522.1, CCDS73032.1	1q41	2008-02-05			ENSG00000143353	ENSG00000143353	127018	127018			20440	protein-coding gene	gene with protein product					NA		Standard	NM_138794	XM_005273046	NA	Approved	Q96AV0	uc001hlq.4	Q5VWZ2	OTTHUMG00000037141	ENST00000366928.5:c.361+1G>T	1.37:g.219366593G>T		NA	Q5VWZ3|Q7Z4A3|Q96AV0	37	CCDS1522.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568093	0.86439	.	.	ENSG00000143353	ENST00000366928;ENST00000366927	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8132	0.96556	0.0:0.0:1.0:0.0	.	.	.	.	X	121;105	.	ENSP00000355894:G105X	G	+	1	0	LYPLAL1	217433216	1.000000	0.71417	0.998000	0.56505	0.872000	0.50106	7.780000	0.85658	2.753000	0.94483	0.585000	0.79938	GGA	LYPLAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090208.1	Nonsense_Mutation	+	ENST00000366928.5	Splice_Site	SNP	1 : 219366593 - 219366593 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	167	38
NUP62	23636	broad.mit.edu	37	19	50412726	50412726	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50412726G>T	ENST00000596217.1	-	2	2226	c.339C>A	c.(337-339)ggC>ggA	p.G113G	NUP62_ENST00000597723.1_Silent_p.G113G|NUP62_ENST00000413454.1_Silent_p.G113G|NUP62_ENST00000597029.1_Silent_p.G113G|NUP62_ENST00000422090.2_Silent_p.G113G|IL4I1_ENST00000341114.3_Intron|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000352066.3_Silent_p.G113G			P37198	NUP62_HUMAN	nucleoporin 62kDa	113	15 X 9 AA approximate repeats.|Thr-rich.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCAGCCCAAAGCCGCTGGGGT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	77	76			NA	NA	19		NA											NA				50412726		2203	4300	6503	SO:0001819	synonymous_variant			X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024	23636	23636			8066	protein-coding gene	gene with protein product	nuclear pore glycoprotein p62	605815	nucleoporin 62kD		NA	1915414	Standard	NM_153719	NM_016553	NA	Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.339C>A	19.37:g.50412726G>T		NA	B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	37	CCDS12788.1																																																																																			NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464991.1		-	ENST00000596217.1	Silent	SNP	19 : 50412726 - 50412726 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	642	110
MAP3K19	80122	broad.mit.edu	37	2	135743506	135743506	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:135743506G>A	ENST00000375845.3	-	7	2966	c.2936C>T	c.(2935-2937)gCt>gTt	p.A979V	MAP3K19_ENST00000392915.1_Missense_Mutation_p.A996V|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.A866V|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000315513.3_5'UTR	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3			mitogen-activated protein kinase kinase kinase 19	NA											NA						CTCATCAAGAGCTAATAATTC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	77	78			NA	NA	2		NA											NA				135743506		2203	4300	6503	SO:0001583	missense			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601	80122	80122		Mitogen-activated protein kinase cascade / Kinase kinase kinases	26249	protein-coding gene	gene with protein product			Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae), yeast Sps1/Ste20-related kinase 4 (S. cerevisiae), YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)	YSK4	NA	12477932	Standard	NM_025052	NM_001282883	NA	Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2936C>T	2.37:g.135743506G>A	ENSP00000365005:p.Ala979Val	NA		37	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548258	0.65311	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.73152	-0.64;-0.62;1.55;-0.72	4.73	4.73	0.59995	.	0.000000	0.46442	D	0.000289	T	0.80401	0.4616	M	0.69823	2.125	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.991	P;D;P	0.74023	0.896;0.982;0.79	T	0.79240	-0.1885	10	0.39692	T	0.17	.	10.2358	0.43282	0.0998:0.0:0.9002:0.0	.	866;996;979	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	V	979;866;996;369	ENSP00000365005:A979V;ENSP00000351140:A866V;ENSP00000376647:A996V;ENSP00000392827:A369V	ENSP00000351140:A866V	A	-	2	0	YSK4	135459976	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.831000	0.69330	2.453000	0.82957	0.455000	0.32223	GCT	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000158244.1		-	ENST00000375845.3	Missense_Mutation	SNP	2 : 135743506 - 135743506 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	267	69
CD80	941	broad.mit.edu	37	3	119263445	119263445	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119263445C>A	ENST00000264246.3	-	3	732	c.370G>T	c.(370-372)Gac>Tac	p.D124Y	CD80_ENST00000478182.1_Missense_Mutation_p.D124Y|CD80_ENST00000383669.3_Missense_Mutation_p.D124Y|CD80_ENST00000383668.3_Missense_Mutation_p.D124Y	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	124	Ig-like V-type.				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)	TTGAAAGCGTCTTTTTCATAC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(132;135 1764 1806 5833 14593)							NA				0													111	112	112			NA	NA	3		NA											NA				119263445		2203	4300	6503	SO:0001583	missense				CCDS2989.1	3q13.3-q21	2013-01-11	2006-03-31		ENSG00000121594	ENSG00000121594	941	941		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing	1700	protein-coding gene	gene with protein product	B-lymphocyte activation antigen B7	112203	CD80 antigen (CD28 antigen ligand 1, B7-1 antigen), CD80 molecule 	CD28LG, CD28LG1	NA	1370389	Standard	NM_005191	NM_005191	NA	Approved	B7.1, B7-1	uc003ecq.3	P33681	OTTHUMG00000159419	ENST00000264246.3:c.370G>T	3.37:g.119263445C>A	ENSP00000264246:p.Asp124Tyr	NA		37	CCDS2989.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.564544	0.45694	.	.	ENSG00000121594	ENST00000264246;ENST00000478182;ENST00000383669;ENST00000383668	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.13	2.34	0.29019	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.616448	0.14576	N	0.311191	T	0.48519	0.1504	N	0.02751	-0.505	0.09310	N	1	D;D;D;D	0.64830	0.994;0.984;0.992;0.992	P;P;P;P	0.53146	0.719;0.565;0.707;0.707	T	0.37407	-0.9707	10	0.72032	D	0.01	-3.8667	4.979	0.14155	0.0:0.6393:0.1739:0.1869	.	124;124;124;124	Q5DTA9;Q5DTB0;A0N0P2;P33681	.;.;.;CD80_HUMAN	Y	124	ENSP00000264246:D124Y;ENSP00000418364:D124Y;ENSP00000373165:D124Y;ENSP00000373164:D124Y	ENSP00000264246:D124Y	D	-	1	0	CD80	120746135	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.302000	0.19192	0.318000	0.23185	0.650000	0.86243	GAC	CD80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355196.1		-	ENST00000264246.3	Missense_Mutation	SNP	3 : 119263445 - 119263445 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	556	105
FAT3	120114	broad.mit.edu	37	11	92085814	92085814	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92085814A>G	ENST00000525166.1	+	1	108	c.86A>G	c.(85-87)cAg>cGg	p.Q29R	FAT3_ENST00000298047.6_Missense_Mutation_p.Q179R|FAT3_ENST00000541502.1_Missense_Mutation_p.Q179R|FAT3_ENST00000409404.2_Missense_Mutation_p.Q179R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	179					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGTGTTGCCCAGGTGACTGCA	0.408		NA								TCGA Ovarian(4;0.039)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	63	64			NA	NA	11		NA											NA				92085814		1878	4123	6001	SO:0001583	missense			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323	120114	120114		Cadherins / Cadherin-related	23112	protein-coding gene	gene with protein product	cadherin-related family member 10	612483	FAT tumor suppressor homolog 3 (Drosophila)		NA	11811999	Standard	NM_001008781	NM_001008781	NA	Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000525166.1:c.86A>G	11.37:g.92085814A>G	ENSP00000432586:p.Gln29Arg	NA	B5MDB0|Q96AU6	37		.	.	.	.	.	.	.	.	.	.	A	1.197	-0.633542	0.03584	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.26	5.26	0.73747	.	.	.	.	.	T	0.30696	0.0773	N	0.16233	0.39	0.32415	N	0.550188	B	0.25105	0.118	B	0.26969	0.075	T	0.19778	-1.0295	9	0.06494	T	0.89	.	14.6575	0.68844	1.0:0.0:0.0:0.0	.	179	Q8TDW7-3	.	R	179;179;179;29	ENSP00000298047:Q179R;ENSP00000387040:Q179R;ENSP00000443786:Q179R;ENSP00000432586:Q29R	ENSP00000298047:Q179R	Q	+	2	0	FAT3	91725462	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	5.197000	0.65141	2.108000	0.64289	0.533000	0.62120	CAG	FAT3-001	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000335363.3		+	ENST00000525166.1	Missense_Mutation	SNP	11 : 92085814 - 92085814 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	309	57
LRRC16A	55604	broad.mit.edu	37	6	25515950	25515950	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25515950C>A	ENST00000329474.6	+	21	2048	c.1680C>A	c.(1678-1680)gtC>gtA	p.V560V		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	560					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AGACTGAGGTCACCATCATCA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	56	55			NA	NA	6		NA											NA				25515950		2172	4290	6462	SO:0001819	synonymous_variant			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691	55604	55604			21581	protein-coding gene	gene with protein product	capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)	609593	leucine rich repeat containing 16	LRRC16	NA	19846667	Standard	NM_017640	NM_017640	NA	Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.1680C>A	6.37:g.25515950C>A		NA	Q6ZUH5|Q6ZW07|Q9NXU7	37	CCDS54973.1																																																																																			LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040045.2		+	ENST00000329474.6	Silent	SNP	6 : 25515950 - 25515950 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	79	16
STAU1	6780	broad.mit.edu	37	20	47734381	47734381	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47734381A>G	ENST00000371856.2	-	11	1852	c.1442T>C	c.(1441-1443)gTa>gCa	p.V481A	STAU1_ENST00000340954.7_Missense_Mutation_p.V400A|STAU1_ENST00000360426.4_Missense_Mutation_p.V400A|STAU1_ENST00000371792.1_Missense_Mutation_p.V398A|STAU1_ENST00000371802.1_Missense_Mutation_p.V406A|STAU1_ENST00000347458.5_Missense_Mutation_p.V400A|STAU1_ENST00000371828.3_Missense_Mutation_p.V406A	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	481						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TCCATGGGGTACGTGGCCTGA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	100	102			NA	NA	20		NA											NA				47734381		2203	4300	6503	SO:0001583	missense				CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214	6780	6780			11370	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 150	601716	staufen (Drosophila, RNA-binding protein), staufen, RNA binding protein (Drosophila), staufen, RNA binding protein, homolog 1 (Drosophila)	STAU	NA	8884277, 15680326	Standard	NM_017453	XM_005260524	NA	Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.1442T>C	20.37:g.47734381A>G	ENSP00000360922:p.Val481Ala	NA	A8K9Z4|E1P5Y1|E1P608|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	37	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.485931	0.26686	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792	T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54	5.62	1.67	0.24075	.	0.382698	0.28724	N	0.014355	T	0.16428	0.0395	N	0.19112	0.55	0.36619	D	0.875678	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.15809	-1.0424	10	0.17369	T	0.5	-1.9751	9.0908	0.36610	0.7594:0.0:0.2406:0.0	.	481;406	O95793;Q5JW29	STAU1_HUMAN;.	A	406;400;481;400;400;400;406;398	ENSP00000360893:V406A;ENSP00000345425:V400A;ENSP00000360922:V481A;ENSP00000353604:V400A;ENSP00000323443:V400A;ENSP00000360867:V406A;ENSP00000360857:V398A	ENSP00000345425:V400A	V	-	2	0	STAU1	47167788	0.004000	0.15560	1.000000	0.80357	0.999000	0.98932	1.920000	0.40025	0.276000	0.22118	0.528000	0.53228	GTA	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079633.1		-	ENST00000371856.2	Missense_Mutation	SNP	20 : 47734381 - 47734381 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	398	77
LEMD2	221496	broad.mit.edu	37	6	33744826	33744826	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33744826G>T	ENST00000293760.5	-	8	1285	c.1266C>A	c.(1264-1266)gtC>gtA	p.V422V	LEMD2_ENST00000508327.1_Silent_p.V120V|LEMD2_ENST00000502643.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	422						integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						AATGGTCCTGGACCACGTCTG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	120	126			NA	NA	6		NA											NA				33744826		2203	4300	6503	SO:0001819	synonymous_variant				CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904	221496	221496			21244	protein-coding gene	gene with protein product					NA	12477932	Standard	XM_166338	NM_001143944	NA	Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.1266C>A	6.37:g.33744826G>T		NA	Q5T972|Q5T974	37	CCDS4785.1	.	.	.	.	.	.	.	.	.	.	G	9.815	1.184209	0.21870	.	.	ENSG00000161904	ENST00000504692	.	.	.	5.66	-1.11	0.09840	.	.	.	.	.	T	0.26521	0.0648	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28933	-1.0028	4	.	.	.	-11.3519	2.9184	0.05760	0.1335:0.3101:0.3499:0.2065	.	.	.	.	T	70	.	.	P	-	1	0	LEMD2	33852804	0.987000	0.35691	1.000000	0.80357	0.958000	0.62258	0.071000	0.14594	0.277000	0.22141	-0.302000	0.09304	CCA	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040209.3		-	ENST00000293760.5	Silent	SNP	6 : 33744826 - 33744826 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	497	40
KRTAP19-1	337882	broad.mit.edu	37	21	31852458	31852458	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31852458C>A	ENST00000390689.2	-	1	205	c.179G>T	c.(178-180)gGa>gTa	p.G60V		NM_181607.1	NP_853638.1	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	60	26 X 2 AA repeats of G-[YCGS].					intermediate filament				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TCCGTAGCCTCCAAAGCCAGA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													217	231	226			NA	NA	21		NA											NA				31852458		2203	4300	6503	SO:0001583	missense			AJ457067	CCDS13594.1	21q22.1	2010-03-10			ENSG00000184351	ENSG00000184351	337882	337882		Keratin associated proteins	18936	protein-coding gene	gene with protein product					NA	12359730	Standard		NM_181607	NA	Approved	KAP19.1	uc011acx.2	Q8IUB9	OTTHUMG00000057768	ENST00000390689.2:c.179G>T	21.37:g.31852458C>A	ENSP00000375108:p.Gly60Val	NA	A4QN27|Q3LI75	37	CCDS13594.1	.	.	.	.	.	.	.	.	.	.	C	3.115	-0.181755	0.06340	.	.	ENSG00000184351	ENST00000390689;ENST00000433652	T	0.11277	2.79	2.28	1.38	0.22167	.	0.000000	0.39475	U	0.001353	T	0.12860	0.0312	.	.	.	0.19945	N	0.999949	P	0.45986	0.87	P	0.48400	0.576	T	0.07654	-1.0761	9	0.87932	D	0	.	4.9284	0.13905	0.0:0.8163:0.0:0.1837	.	60	Q8IUB9	KR191_HUMAN	V	60;51	ENSP00000375108:G60V	ENSP00000375108:G60V	G	-	2	0	KRTAP19-1	30774329	0.667000	0.27484	0.004000	0.12327	0.021000	0.10359	1.794000	0.38774	0.500000	0.27991	0.313000	0.20887	GGA	KRTAP19-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128220.2		-	ENST00000390689.2	Missense_Mutation	SNP	21 : 31852458 - 31852458 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1708	44
C7orf10	0	broad.mit.edu	37	7	40234621	40234621	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:40234621A>C	ENST00000335693.4	+	6	490	c.467A>C	c.(466-468)gAc>gCc	p.D156A	C7orf10_ENST00000540834.1_Missense_Mutation_p.D149A|C7orf10_ENST00000401647.2_Missense_Mutation_p.D156A|C7orf10_ENST00000309930.5_Missense_Mutation_p.D156A	NM_001193313.1	NP_001180242.1	Q9HAC7	CG010_HUMAN		156							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						GAAGATATAGACGAGATTGCT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													240	240	240			NA	NA	7		NA											NA				40234621		1942	4139	6081	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000335693.4:c.467A>C	7.37:g.40234621A>C	ENSP00000338475:p.Asp156Ala	NA	A4D1W5|B4DR73|Q4KMW4|Q4KMZ0|Q8TE00|Q8TEY1	37	CCDS55105.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	11.23|11.23|11.23	1.578858|1.578858|1.578858	0.28180|0.28180|0.28180	.|.|.	.|.|.	ENSG00000175600|ENSG00000175600|ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693;ENST00000540834|ENST00000413931|ENST00000416370	T;T;T;T|.|.	0.51817|.|.	0.69;0.69;0.69;0.69|.|.	5.76|5.76|5.76	4.59|4.59|4.59	0.56863|0.56863|0.56863	CoA-transferase family III domain (2);|.|.	0.624559|.|.	0.18514|.|.	N|.|.	0.138967|.|.	T|T|T	0.09905|0.09905|0.09905	0.0243|0.0243|0.0243	N|N|N	0.00395|0.00395|0.00395	-1.55|-1.55|-1.55	0.31603|0.31603|0.31603	N|N|N	0.652456|0.652456|0.652456	B;B|.|.	0.11235|.|.	0.004;0.001|.|.	B;B|.|.	0.17098|.|.	0.017;0.017|.|.	T|T|T	0.09143|0.09143|0.09143	-1.0688|-1.0688|-1.0688	10|5|5	0.44086|.|.	T|.|.	0.13|.|.	-7.9835|-7.9835|-7.9835	11.2341|11.2341|11.2341	0.48929|0.48929|0.48929	0.9253:0.0:0.0747:0.0|0.9253:0.0:0.0747:0.0|0.9253:0.0:0.0747:0.0	.|.|.	156;156|.|.	Q4KMW8;Q9HAC7|.|.	.;CG010_HUMAN|.|.	A|S|P	156;156;156;149|167|151	ENSP00000312054:D156A;ENSP00000385222:D156A;ENSP00000338475:D156A;ENSP00000445521:D149A|.|.	ENSP00000312054:D156A|.|.	D|R|T	+|+|+	2|3|1	0|2|0	C7orf10|C7orf10|C7orf10	40201146|40201146|40201146	0.996000|0.996000|0.996000	0.38824|0.38824|0.38824	0.973000|0.973000|0.973000	0.42090|0.42090|0.42090	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	3.322000|3.322000|3.322000	0.52007|0.52007|0.52007	2.192000|2.192000|2.192000	0.70111|0.70111|0.70111	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	GAC|AGA|ACG	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000338388.1		+	ENST00000335693.4	Missense_Mutation	SNP	7 : 40234621 - 40234621 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	983	155
LRIG3	121227	broad.mit.edu	37	12	59283900	59283900	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:59283900G>A	ENST00000320743.3	-	5	823	c.537C>T	c.(535-537)gtC>gtT	p.V179V	LRIG3_ENST00000379141.4_Silent_p.V119V	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	179						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CCATTGATGTGACTCGGTTGC	0.413		NA	T	ROS1	NSCLC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	0													219	211	214			NA	NA	12		NA											NA				59283900		2203	4300	6503	SO:0001819	synonymous_variant			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263	121227	121227		Immunoglobulin superfamily / I-set domain containing	30991	protein-coding gene	gene with protein product		608870			NA		Standard	NM_153377	NM_153377	NA	Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.537C>T	12.37:g.59283900G>A		NA	Q6UXL7|Q8NC72	37	CCDS8960.1																																																																																			LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406623.1		-	ENST00000320743.3	Silent	SNP	12 : 59283900 - 59283900 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1142	226
NPC1L1	29881	broad.mit.edu	37	7	44579904	44579904	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44579904C>T	ENST00000423141.1	-	2	147	c.92G>A	c.(91-93)gGc>gAc	p.G31D	NPC1L1_ENST00000289547.4_Missense_Mutation_p.G31D|NPC1L1_ENST00000546276.1_Missense_Mutation_p.G31D|NPC1L1_ENST00000381160.3_Missense_Mutation_p.G31D			Q9UHC9	NPCL1_HUMAN	NPC1-like 1	31					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GGCGCAGTAGCCAGGCTGGTG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	74	75			NA	NA	7		NA											NA				44579904		2203	4300	6503	SO:0001583	missense				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520	29881	29881			7898	protein-coding gene	gene with protein product		608010	NPC1 (Niemann-Pick disease, type C1, gene)-like 1		NA	10783261	Standard	NM_013389	NM_013389	NA	Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000423141.1:c.92G>A	7.37:g.44579904C>T	ENSP00000404670:p.Gly31Asp	NA	A4D2J7|Q6R3Q4|Q9UHC8	37		.	.	.	.	.	.	.	.	.	.	c	17.29	3.353004	0.61293	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.97016	-4.21;-4.21;-4.21;-4.21	5.17	4.29	0.51040	.	0.064498	0.64402	N	0.000011	D	0.97801	0.9278	M	0.83012	2.62	0.49389	D	0.999782	P;D;D;D	0.89917	0.941;1.0;0.995;1.0	B;D;P;D	0.97110	0.369;1.0;0.739;0.999	D	0.97747	1.0212	10	0.56958	D	0.05	-27.0967	11.3615	0.49646	0.0:0.9104:0.0:0.0896	.	31;31;31;31	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	D	31	ENSP00000289547:G31D;ENSP00000370552:G31D;ENSP00000438033:G31D;ENSP00000404670:G31D	ENSP00000289547:G31D	G	-	2	0	NPC1L1	44546429	0.991000	0.36638	0.924000	0.36721	0.716000	0.41182	3.187000	0.50950	1.172000	0.42781	0.561000	0.74099	GGC	NPC1L1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000339389.1		-	ENST00000423141.1	Missense_Mutation	SNP	7 : 44579904 - 44579904 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	306	62
PCDH10	57575	broad.mit.edu	37	4	134071914	134071914	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134071914G>T	ENST00000264360.5	+	1	1445	c.619G>T	c.(619-621)Gga>Tga	p.G207*		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	NA	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGTGGACggaggaggtggggg	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	32	32			NA	NA	4		NA											NA				134071914		2203	4297	6500	SO:0001587	stop_gained			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650	57575	57575		Cadherins / Protocadherins : Non-clustered	13404	protein-coding gene	gene with protein product		608286			NA	10835267	Standard	NM_032961	NM_020815	NA	Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.619G>T	4.37:g.134071914G>T	ENSP00000264360:p.Gly207*	NA	Q4W5F6	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	45	11.398851	0.99556	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	.	.	.	4.42	4.42	0.53409	.	0.000000	0.36665	N	0.002475	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.8044	0.85622	0.0:0.0:1.0:0.0	.	.	.	.	X	207	.	ENSP00000264360:G207X	G	+	1	0	PCDH10	134291364	1.000000	0.71417	0.997000	0.53966	0.922000	0.55478	8.435000	0.90297	2.261000	0.74972	0.561000	0.74099	GGA	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364457.2		+	ENST00000264360.5	Nonsense_Mutation	SNP	4 : 134071914 - 134071914 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	343	73
ZKSCAN4	387032	broad.mit.edu	37	6	28213259	28213259	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28213259T>C	ENST00000377294.2	-	5	1516	c.1273A>G	c.(1273-1275)Att>Gtt	p.I425V	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.I270V	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	425					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CCAGTATGAATTTTGTGATGT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	78	78			NA	NA	6		NA											NA				28213259		2203	4300	6503	SO:0001583	missense			AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626	387032	387032		Zinc fingers, C2H2-type, -, -, -	13854	protein-coding gene	gene with protein product		611643	zinc finger protein 307, zinc finger protein 427	ZNF307, ZNF427	NA	12477932	Standard	NM_019110	NM_019110	NA	Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.1273A>G	6.37:g.28213259T>C	ENSP00000366509:p.Ile425Val	NA	B2RE32|Q5U7L4	37	CCDS4647.1	.	.	.	.	.	.	.	.	.	.	T	19.11	3.763298	0.69763	.	.	ENSG00000187626	ENST00000377294;ENST00000423974;ENST00000449813;ENST00000356796	T;T	0.00986	5.47;5.47	5.52	5.52	0.82312	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01421	0.0046	L	0.33137	0.985	0.25935	N	0.982941	D	0.63880	0.993	D	0.76071	0.987	T	0.56860	-0.7909	9	0.49607	T	0.09	.	14.9164	0.70801	0.0:0.0:0.0:1.0	.	425	Q969J2	ZKSC4_HUMAN	V	425;270;131;301	ENSP00000366509:I425V;ENSP00000401978:I270V	ENSP00000349249:I301V	I	-	1	0	ZKSCAN4	28321238	0.001000	0.12720	1.000000	0.80357	0.856000	0.48823	1.094000	0.30951	2.212000	0.71576	0.533000	0.62120	ATT	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040179.1		-	ENST00000377294.2	Missense_Mutation	SNP	6 : 28213259 - 28213259 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	479	99
BTN3A2	11118	broad.mit.edu	37	6	26370581	26370581	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26370581G>T	ENST00000356386.2	+	5	653	c.465G>T	c.(463-465)aaG>aaT	p.K155N	BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000377708.2_Missense_Mutation_p.K155N|BTN3A2_ENST00000396948.1_Missense_Mutation_p.K155N|BTN3A2_ENST00000527422.1_Missense_Mutation_p.K155N|BTN3A2_ENST00000396934.3_Missense_Mutation_p.K132N|BTN3A2_ENST00000508906.2_Missense_Mutation_p.K113N	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	155						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						TCGAAGTGAAGGGTTATGAGG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	95	99			NA	NA	6		NA											NA				26370581		2203	4300	6503	SO:0001583	missense			U90546	CCDS4605.1, CCDS56399.1, CCDS56400.1	6p22.1	2014-01-14			ENSG00000186470	ENSG00000186470	11118	11118		Immunoglobulin superfamily / V-set domain containing, Butyrophilins	1139	protein-coding gene	gene with protein product		613594			NA	9149941	Standard		NM_007047	NA	Approved	BTN3.2	uc010jqi.2	P78410	OTTHUMG00000014450	ENST00000356386.2:c.465G>T	6.37:g.26370581G>T	ENSP00000348751:p.Lys155Asn	NA	O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	37	CCDS4605.1	.	.	.	.	.	.	.	.	.	.	g	13.31	2.198784	0.38806	.	.	ENSG00000186470	ENST00000532865;ENST00000530653;ENST00000535620;ENST00000527422;ENST00000356386;ENST00000396934;ENST00000377708;ENST00000396948;ENST00000508906	T;T;T;T;T;T;T;T	0.13901	2.55;3.28;4.04;4.04;3.89;4.04;4.04;4.45	2.84	-1.73	0.08081	Immunoglobulin-like fold (1);	.	.	.	.	T	0.19046	0.0457	M	0.87381	2.88	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.04078	-1.0979	9	0.72032	D	0.01	.	2.5861	0.04830	0.469:0.0:0.3088:0.2221	.	132;155	F8W6E0;P78410	.;BT3A2_HUMAN	N	113;113;155;155;155;132;155;155;113	ENSP00000435952:K113N;ENSP00000434102:K113N;ENSP00000432138:K155N;ENSP00000348751:K155N;ENSP00000380140:K132N;ENSP00000366937:K155N;ENSP00000380152:K155N;ENSP00000442687:K113N	ENSP00000348751:K155N	K	+	3	2	BTN3A2	26478560	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-0.233000	0.09041	-0.301000	0.08882	0.405000	0.27470	AAG	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040113.2		+	ENST00000356386.2	Missense_Mutation	SNP	6 : 26370581 - 26370581 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	37
PEX7	5191	broad.mit.edu	37	6	137234651	137234651	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137234651C>A	ENST00000318471.4	+	10	1040	c.959C>A	c.(958-960)aCt>aAt	p.T320N	PEX7_ENST00000541292.1_3'UTR	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	320					ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		GCTTGTCTTACTATTCCTGCT	0.358		NA											C	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	2e-04	SNP								NA				0													244	230	234			NA	NA	6		NA											NA				137234651		2203	4300	6503	SO:0001583	missense			AF180814	CCDS5180.1	6q21-q22.2	2013-01-10			ENSG00000112357	ENSG00000112357	5191	5191		WD repeat domain containing	8860	protein-coding gene	gene with protein product	Refsum disease	601757			NA	9090381, 10673331	Standard	NM_000288	NM_000288	NA	Approved	PTS2R, RD	uc003qhd.3	O00628	OTTHUMG00000015650	ENST00000318471.4:c.959C>A	6.37:g.137234651C>A	ENSP00000315680:p.Thr320Asn	NA		37	CCDS5180.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	4.607	0.112873	0.08831	.	.	ENSG00000112357	ENST00000318471	T	0.64085	-0.08	5.34	2.13	0.27403	WD40-repeat-containing domain (1);	0.610740	0.18092	N	0.151942	T	0.17662	0.0424	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.16289	0.015	T	0.19582	-1.0301	10	0.25751	T	0.34	-22.7369	8.2003	0.31421	0.0:0.607:0.3023:0.0907	.	320	O00628	PEX7_HUMAN	N	320	ENSP00000315680:T320N	ENSP00000315680:T320N	T	+	2	0	PEX7	137276344	0.000000	0.05858	0.003000	0.11579	0.225000	0.24961	0.710000	0.25748	1.223000	0.43536	-0.499000	0.04595	ACT	PEX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042387.2		+	ENST00000318471.4	Missense_Mutation	SNP	6 : 137234651 - 137234651 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	821	149
TTI1	9675	broad.mit.edu	37	20	36640365	36640365	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36640365G>T	ENST00000373448.2	-	3	2092	c.1854C>A	c.(1852-1854)tgC>tgA	p.C618*	TTI1_ENST00000373447.3_Nonsense_Mutation_p.C618*|TTI1_ENST00000449821.1_Nonsense_Mutation_p.C618*|TTI1_ENST00000487362.1_5'UTR	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	618							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TGTTCATGGAGCAAATAGTGG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	136	137			NA	NA	20		NA											NA				36640365		2203	4300	6503	SO:0001587	stop_gained			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407	9675	9675			29029	protein-coding gene	gene with protein product	smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)	614425	KIAA0406, Tel2 interacting protein 1 homolog (S. pombe)	KIAA0406	NA	9455477, 20427287, 20371770	Standard	NM_014657	NM_014657	NA	Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1854C>A	20.37:g.36640365G>T	ENSP00000362547:p.Cys618*	NA	Q5JX67|Q96A38|Q9BR47|Q9H4K0	37	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	G	34	5.322914	0.95708	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	.	.	.	5.23	3.16	0.36331	.	0.144292	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-10.7978	8.3783	0.32455	0.2575:0.0:0.7425:0.0	.	.	.	.	X	618	.	ENSP00000362546:C618X	C	-	3	2	TTI1	36073779	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.011000	0.49567	1.436000	0.47453	0.655000	0.94253	TGC	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079138.2		-	ENST00000373448.2	Nonsense_Mutation	SNP	20 : 36640365 - 36640365 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	858	176
PIAS2	9063	broad.mit.edu	37	18	44470643	44470643	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44470643C>A	ENST00000585916.1	-	2	398	c.399G>T	c.(397-399)caG>caT	p.Q133H	PIAS2_ENST00000545673.1_Intron|PIAS2_ENST00000324794.7_Missense_Mutation_p.Q133H	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	133					androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						GAGATGGCTGCTGCATCTCAA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	88	95			NA	NA	18		NA											NA				44470643		2203	4300	6503	SO:0001583	missense			AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043	9063	9063		Zinc fingers, MIZ-type	17311	protein-coding gene	gene with protein product	zinc finger, MIZ-type containing 4	603567			NA	9724754, 9256341	Standard	NM_004671	NM_004671	NA	Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.399G>T	18.37:g.44470643C>A	ENSP00000465676:p.Gln133His	NA	O75927|Q96BT5|Q96KE3	37	CCDS32824.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.154880	0.38021	.	.	ENSG00000078043	ENST00000398654;ENST00000262161;ENST00000398651;ENST00000324794	T	0.32515	1.45	6.06	6.06	0.98353	.	0.050470	0.85682	D	0.000000	T	0.27798	0.0684	L	0.28274	0.84	0.80722	D	1	B;B;B;B	0.26512	0.012;0.007;0.151;0.057	B;B;B;B	0.25884	0.012;0.005;0.064;0.029	T	0.02477	-1.1153	10	0.42905	T	0.14	-6.6939	20.6244	0.99512	0.0:1.0:0.0:0.0	.	137;133;133;133	O75928-3;Q2TA77;O75928-2;O75928	.;.;.;PIAS2_HUMAN	H	133;133;129;133	ENSP00000317163:Q133H	ENSP00000262161:Q133H	Q	-	3	2	PIAS2	42724641	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	3.066000	0.50002	2.879000	0.98667	0.650000	0.86243	CAG	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445656.2		-	ENST00000585916.1	Missense_Mutation	SNP	18 : 44470643 - 44470643 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	43
USP15	9958	broad.mit.edu	37	12	62777738	62777738	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:62777738C>T	ENST00000280377.5	+	10	1265	c.1207C>T	c.(1207-1209)Cca>Tca	p.P403S	USP15_ENST00000393654.3_Missense_Mutation_p.P378S|USP15_ENST00000353364.3_Missense_Mutation_p.P374S	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	403					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TAGGAAAAAACCATATATACA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(181;615 2041 39364 49691 50001)							NA				0													74	75	75			NA	NA	12		NA											NA				62777738		2203	4299	6502	SO:0001583	missense			AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08				9958	9958		Ubiquitin-specific peptidases	12613	protein-coding gene	gene with protein product		604731	ubiquitin specific protease 15		NA	12838346	Standard	NM_006313	NM_001252078	NA	Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1207C>T	12.37:g.62777738C>T	ENSP00000280377:p.Pro403Ser	NA	Q9HCA6|Q9UNP0|Q9Y5B5	37	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270563	0.80469	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.29655	4.18;4.18;1.56	5.4	4.51	0.55191	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.055071	0.85682	D	0.000000	T	0.54631	0.1870	M	0.70787	2.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.57081	-0.7872	9	.	.	.	-8.9265	15.6864	0.77415	0.1379:0.8621:0.0:0.0	.	403;374	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	S	374;403;378	ENSP00000258123:P374S;ENSP00000280377:P403S;ENSP00000377264:P378S	.	P	+	1	0	USP15	61064005	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	1.493000	0.48517	0.655000	0.94253	CCA	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407831.2		+	ENST00000280377.5	Missense_Mutation	SNP	12 : 62777738 - 62777738 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	51
CCDC93	54520	broad.mit.edu	37	2	118758448	118758448	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:118758448C>A	ENST00000376300.2	-	4	449	c.312G>T	c.(310-312)gaG>gaT	p.E104D	CCDC93_ENST00000319432.5_Missense_Mutation_p.E104D|AC009303.1_ENST00000590516.1_RNA|AC009303.1_ENST00000588042.1_RNA	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	104										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						TCTGGTGGGGCTCCAGCTGGT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	112	113			NA	NA	2		NA											NA				118758448		2203	4300	6503	SO:0001583	missense			BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633	54520	54520			25611	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_019044	NM_019044	NA	Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.312G>T	2.37:g.118758448C>A	ENSP00000365477:p.Glu104Asp	NA	A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	37	CCDS2121.2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126002	0.77436	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.49432	0.78;0.78	5.01	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.67896	0.2942	M	0.80508	2.5	0.50813	D	0.999895	D	0.89917	1.0	D	0.83275	0.996	T	0.70163	-0.4947	10	0.44086	T	0.13	-23.1679	12.5642	0.56300	0.0:0.918:0.0:0.082	.	104	Q567U6	CCD93_HUMAN	D	104	ENSP00000365477:E104D;ENSP00000324135:E104D	ENSP00000324135:E104D	E	-	3	2	CCDC93	118474918	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.082000	0.30803	1.480000	0.48289	0.591000	0.81541	GAG	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000129615.1		-	ENST00000376300.2	Missense_Mutation	SNP	2 : 118758448 - 118758448 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	301	18
SACS	26278	broad.mit.edu	37	13	23929960	23929960	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23929960C>T	ENST00000382292.3	-	7	1064	c.791G>A	c.(790-792)gGc>gAc	p.G264D	SACS_ENST00000382298.3_Missense_Mutation_p.G264D|SACS_ENST00000402364.1_5'UTR			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	264					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.G117D(1)|p.G264D(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGGAAAATTGCCGTTTATAAA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	endometrium(2)											113	108	109			NA	NA	13		NA											NA				23929960		2203	4300	6503	SO:0001583	missense			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835	26278	26278		Heat shock proteins / DNAJ (HSP40)	10519	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 138	604490	spastic ataxia of Charlevoix-Saguenay (sacsin)		NA	10610707, 15057823, 21726565	Standard	NM_014363	NM_001278055	NA	Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.791G>A	13.37:g.23929960C>T	ENSP00000371729:p.Gly264Asp	NA	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342613	0.61073	.	.	ENSG00000151835	ENST00000382292;ENST00000382298	D;D	0.91407	-2.84;-2.84	5.94	5.1	0.69264	ATPase-like, ATP-binding domain (2);	0.110179	0.64402	D	0.000010	D	0.92668	0.7670	L	0.47716	1.5	0.45490	D	0.998454	D;B;B	0.56968	0.978;0.147;0.173	P;B;B	0.61397	0.888;0.138;0.068	D	0.91868	0.5505	10	0.36615	T	0.2	.	17.0221	0.86436	0.0:0.8658:0.1342:0.0	.	163;51;264	B2REB1;E9PAL4;Q9NZJ4	.;.;SACS_HUMAN	D	264	ENSP00000371729:G264D;ENSP00000371735:G264D	ENSP00000371729:G264D	G	-	2	0	SACS	22827960	1.000000	0.71417	0.649000	0.29536	0.772000	0.43724	5.028000	0.64115	1.506000	0.48736	0.650000	0.86243	GGC	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044148.3		-	ENST00000382292.3	Missense_Mutation	SNP	13 : 23929960 - 23929960 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	467	96
EEF1D	1936	broad.mit.edu	37	8	144671318	144671318	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144671318C>T	ENST00000532400.1	-	2	49				EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000423316.2_Missense_Mutation_p.A312T|EEF1D_ENST00000442189.2_Missense_Mutation_p.A312T|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000532741.1_Missense_Mutation_p.A362T|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000317198.6_Intron			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	NA					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGGGCCTCTGCATCCTTCTGC	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	20	19			NA	NA	8		NA											NA				144671318		2196	4292	6488	SO:0001627	intron_variant			AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529	1936	1936			3211	protein-coding gene	gene with protein product		130592			NA	8334168	Standard	NM_032378	NM_001960	NA	Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000532400.1:c.7-2296G>A	8.37:g.144671318C>T		NA	D3DWK3|Q969J1|Q96I38	37		.	.	.	.	.	.	.	.	.	.	C	9.561	1.118380	0.20877	.	.	ENSG00000104529	ENST00000532741;ENST00000442189;ENST00000423316;ENST00000356793;ENST00000337369	.	.	.	4.9	1.92	0.25849	.	0.386686	0.26738	N	0.022758	T	0.19366	0.0465	N	0.25647	0.755	0.20489	N	0.999899	B;B;B	0.29646	0.164;0.146;0.253	B;B;B	0.28232	0.04;0.038;0.087	T	0.17379	-1.0371	9	0.66056	D	0.02	.	0.867	0.01206	0.2176:0.3907:0.1873:0.2044	.	312;362;312	D3DWK1;E9PRY8;P29692-2	.;.;.	T	362;312;312;264;312	.	ENSP00000338323:A312T	A	-	1	0	EEF1D	144742461	0.949000	0.32298	0.211000	0.23655	0.568000	0.35870	2.457000	0.45005	0.552000	0.29026	0.561000	0.74099	GCA	EEF1D-016	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000386262.1		-	ENST00000532400.1	Intron	SNP	8 : 144671318 - 144671318 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	105	27
RMND1	55005	broad.mit.edu	37	6	151766865	151766865	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151766865G>T	ENST00000367303.4	-	2	204	c.82C>A	c.(82-84)Cta>Ata	p.L28I	RMND1_ENST00000491268.1_5'UTR	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	28										central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		TTTAACATTAGATGACCGATT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	65	68			NA	NA	6		NA											NA				151766865		2203	4300	6503	SO:0001583	missense			AK000634	CCDS5232.1, CCDS75539.1	6q25.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000155906	ENSG00000155906	55005	55005			21176	protein-coding gene	gene with protein product		614917	chromosome 6 open reading frame 96	C6orf96	NA		Standard	NM_017909	NM_001271937	NA	Approved	bA351K16.3, FLJ20627, RMD1	uc003qoi.3	Q9NWS8	OTTHUMG00000015837	ENST00000367303.4:c.82C>A	6.37:g.151766865G>T	ENSP00000356272:p.Leu28Ile	NA	A8K8H4|Q0VDG6|Q5SZ48|Q5SZ83|Q6NSC5|Q96EN7	37	CCDS5232.1	.	.	.	.	.	.	.	.	.	.	G	8.615	0.890054	0.17540	.	.	ENSG00000155906	ENST00000367303	T	0.44881	0.91	5.22	4.34	0.51931	.	1.119980	0.06825	N	0.792876	T	0.16171	0.0389	N	0.14661	0.345	0.34761	D	0.732727	P;B	0.35982	0.531;0.165	B;B	0.38056	0.264;0.032	T	0.02208	-1.1195	10	0.35671	T	0.21	0.5621	12.0296	0.53390	0.0825:0.0:0.9175:0.0	.	28;28	Q9NWS8-3;Q9NWS8	.;RMND1_HUMAN	I	28	ENSP00000356272:L28I	ENSP00000356272:L28I	L	-	1	2	RMND1	151808558	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.605000	0.24179	1.179000	0.42884	0.563000	0.77884	CTA	RMND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042718.2		-	ENST00000367303.4	Missense_Mutation	SNP	6 : 151766865 - 151766865 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	353	66
SHB	6461	broad.mit.edu	37	9	37974723	37974723	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37974723C>T	ENST00000377707.3	-	3	1515	c.950G>A	c.(949-951)aGc>aAc	p.S317N	RP11-613M10.9_ENST00000540557.1_3'UTR	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	317	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		CAGTCGGGGGCTGACTGTGCT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	93	90			NA	NA	9		NA											NA				37974723		2073	4182	6255	SO:0001583	missense				CCDS43806.1	9p13.2	2013-09-23	2005-05-24		ENSG00000107338	ENSG00000107338	6461	6461		SH2 domain containing	10838	protein-coding gene	gene with protein product		600314	SHB adaptor protein (a Src homology 2 protein), SHB (Src homology 2 domain containing) adaptor protein B		NA	7713524	Standard		NM_003028	NA	Approved		uc004aax.3	Q15464	OTTHUMG00000019936	ENST00000377707.3:c.950G>A	9.37:g.37974723C>T	ENSP00000366936:p.Ser317Asn	NA	B9EGM0|D3DRQ5|Q504U5|Q5VUM8	37	CCDS43806.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272650	0.59649	.	.	ENSG00000107338	ENST00000377707	T	0.44083	0.93	5.55	5.55	0.83447	.	0.616511	0.16287	N	0.221097	T	0.29524	0.0736	N	0.19112	0.55	0.80722	D	1	B	0.33073	0.396	B	0.26770	0.073	T	0.08513	-1.0718	10	0.30854	T	0.27	-23.0729	17.0051	0.86391	0.0:1.0:0.0:0.0	.	317	Q15464	SHB_HUMAN	N	317	ENSP00000366936:S317N	ENSP00000366936:S317N	S	-	2	0	SHB	37964723	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.021000	0.57196	2.620000	0.88729	0.563000	0.77884	AGC	SHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052490.1		-	ENST00000377707.3	Missense_Mutation	SNP	9 : 37974723 - 37974723 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	420	73
CCDC36	339834	broad.mit.edu	37	3	49293689	49293689	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49293689C>T	ENST00000438782.1	+	8	995	c.759C>T	c.(757-759)gtC>gtT	p.V253V	CCDC36_ENST00000296449.5_Silent_p.V253V|CCDC36_ENST00000452691.2_Silent_p.V253V			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	253										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		TGCCCAGTGTCCTAGCAGAGC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	80	81			NA	NA	3		NA											NA				49293689		2203	4300	6503	SO:0001819	synonymous_variant			AK058049	CCDS33755.2	3p21.31	2009-08-06			ENSG00000173421	ENSG00000173421	339834	339834			27945	protein-coding gene	gene with protein product	cancer/testis antigen 74				NA		Standard	NM_178173	NM_178173	NA	Approved	FLJ25320, CT74	uc011bck.1	Q8IYA8	OTTHUMG00000155920	ENST00000438782.1:c.759C>T	3.37:g.49293689C>T		NA	C9JJL0|Q05DG9|Q96LP7	37	CCDS33755.2																																																																																			CCDC36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342332.1		+	ENST00000438782.1	Silent	SNP	3 : 49293689 - 49293689 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	474	110
PTPRD	5789	broad.mit.edu	37	9	8340450	8340450	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:8340450C>T	ENST00000381196.4	-	39	5689	c.5146G>A	c.(5146-5148)Gct>Act	p.A1716T	PTPRD_ENST00000356435.5_Missense_Mutation_p.A1716T|PTPRD_ENST00000355233.5_Missense_Mutation_p.A1310T|PTPRD_ENST00000397617.3_Missense_Mutation_p.A1309T|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1694T|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1703T|PTPRD_ENST00000537002.1_Missense_Mutation_p.A1306T|PTPRD_ENST00000540109.1_Missense_Mutation_p.A1716T|PTPRD_ENST00000397606.3_Missense_Mutation_p.A1309T|PTPRD_ENST00000486161.1_Missense_Mutation_p.A1309T|PTPRD_ENST00000397611.3_Missense_Mutation_p.A1306T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1716	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCCTGGGTAGCGATGTAGGCT	0.443		NA								TSP Lung(15;0.13)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	94	97			NA	NA	9		NA											NA				8340450		2203	4300	6503	SO:0001583	missense			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707	5789	5789		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	9668	protein-coding gene	gene with protein product		601598			NA	7896816, 8355697	Standard		NM_002839	NA	Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.5146G>A	9.37:g.8340450C>T	ENSP00000370593:p.Ala1716Thr	NA	B1ALA0	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.855189	0.91355	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	D;D;D;D;D;D;D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05	5.98	5.98	0.97165	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.95762	0.8621	H	0.97240	3.965	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D;D	0.91635	0.986;0.986;0.986;0.986;0.98;0.977;0.994;0.999;0.928	D	0.96522	0.9386	9	.	.	.	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	1309;1300;1309;1310;1306;1306;1703;1716;1716	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	T	1716;1716;1703;1694;1310;1309;1306;1306;1187;1716;1309;1309	ENSP00000370593:A1716T;ENSP00000348812:A1716T;ENSP00000353187:A1703T;ENSP00000351293:A1694T;ENSP00000347373:A1310T;ENSP00000380741:A1309T;ENSP00000380735:A1306T;ENSP00000440515:A1306T;ENSP00000438164:A1716T;ENSP00000417093:A1309T;ENSP00000380731:A1309T	.	A	-	1	0	PTPRD	8330450	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	7.776000	0.85560	2.838000	0.97847	0.591000	0.81541	GCT	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055395.3		-	ENST00000381196.4	Missense_Mutation	SNP	9 : 8340450 - 8340450 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	28
EPHA5	2044	broad.mit.edu	37	4	66280142	66280142	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:66280142G>A	ENST00000273854.3	-	7	2147	c.1547C>T	c.(1546-1548)aCg>aTg	p.T516M	EPHA5_ENST00000511294.1_Missense_Mutation_p.T516M|EPHA5_ENST00000432638.2_Missense_Mutation_p.T352M|EPHA5_ENST00000354839.4_Missense_Mutation_p.T516M	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	516	Fibronectin type-III 2.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TTTGATAATCGTGTAGCTGGT	0.388		NA								TSP Lung(17;0.13)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													173	139	151			NA	NA	4		NA											NA				66280142		2203	4300	6503	SO:0001583	missense			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242	2044	2044		EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3389	protein-coding gene	gene with protein product		600004	EphA5		NA	9267020, 7528718	Standard	NM_004439	NM_004439	NA	Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1547C>T	4.37:g.66280142G>A	ENSP00000273854:p.Thr516Met	NA	Q7Z3F2	37	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533607	0.85812	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	6.17	6.17	0.99709	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	T	0.74176	0.3682	M	0.72624	2.21	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.97;1.0;0.991	T	0.71556	-0.4557	10	0.51188	T	0.08	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	516;516;516;516	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	M	516;352;516;516	ENSP00000273854:T516M;ENSP00000389208:T352M;ENSP00000346899:T516M;ENSP00000427638:T516M	ENSP00000273854:T516M	T	-	2	0	EPHA5	65962737	1.000000	0.71417	0.998000	0.56505	0.907000	0.53573	7.822000	0.86651	2.941000	0.99782	0.655000	0.94253	ACG	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251388.2		-	ENST00000273854.3	Missense_Mutation	SNP	4 : 66280142 - 66280142 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	530	78
MTOR	2475	broad.mit.edu	37	1	11317062	11317062	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11317062G>A	ENST00000361445.4	-	4	508	c.432C>T	c.(430-432)taC>taT	p.Y144Y		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	144					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CAAATTCCACGTACTCAGCGG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	64	68			NA	NA	1		NA											NA				11317062		2203	4300	6503	SO:0001819	synonymous_variant			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793	2475	2475			3942	protein-coding gene	gene with protein product	FK506 binding protein 12-rapamycin associated protein 2, rapamycin target protein, FKBP12-rapamycin complex-associated protein 1, FKBP-rapamycin associated protein, rapamycin associated protein FRAP2, dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1), rapamycin and FKBP12 target 1, mammalian target of rapamycin	601231	FK506 binding protein 12-rapamycin associated protein 1	FRAP, FRAP2, FRAP1	NA	8008069, 8660990	Standard	NM_004958	NM_004958	NA	Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.432C>T	1.37:g.11317062G>A		NA	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	37	CCDS127.1																																																																																			MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005558.1		-	ENST00000361445.4	Silent	SNP	1 : 11317062 - 11317062 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	142	21
RARS	5917	broad.mit.edu	37	5	167929034	167929034	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167929034C>T	ENST00000231572.3	+	9	1035	c.981C>T	c.(979-981)gaC>gaT	p.D327D	RARS_ENST00000538719.1_Silent_p.D121D|RARS_ENST00000520421.1_3'UTR	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	327					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		ATGCATTGGACGTCTCTTTAA	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	100	98			NA	NA	5		NA											NA				167929034		2202	4293	6495	SO:0001819	synonymous_variant			BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	5917	5917	6.1.1.19	Aminoacyl tRNA synthetases / Class I	9870	protein-coding gene	gene with protein product	arginine tRNA ligase 1, cytoplasmic	107820			NA	7590355	Standard	NM_002887	NM_002887	NA	Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.981C>T	5.37:g.167929034C>T		NA	B2RBS9|Q53GY4|Q9BWA1	37	CCDS4367.1																																																																																			RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252794.2		+	ENST00000231572.3	Silent	SNP	5 : 167929034 - 167929034 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	567	35
CYP4F12	66002	broad.mit.edu	37	19	15794373	15794373	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15794373C>A	ENST00000550308.1	+	7	1098	c.718C>A	c.(718-720)Ctc>Atc	p.L240I	CYP4F12_ENST00000324632.10_Missense_Mutation_p.L240I	NM_023944.3	NP_076433			cytochrome P450, family 4, subfamily F, polypeptide 12	NA										NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CCAGCATATCCTCCAGCACAT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	78	78			NA	NA	19		NA											NA				15794373		2201	4299	6500	SO:0001583	missense			AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204	66002	66002		Cytochrome P450s	18857	protein-coding gene	gene with protein product		611485	cytochrome P450, subfamily IVF, polypeptide 12		NA	11162607	Standard		NM_023944	NA	Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.718C>A	19.37:g.15794373C>A	ENSP00000448998:p.Leu240Ile	NA		37	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	6.064	0.380036	0.11466	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.70164	-0.46;-0.46	2.46	1.4	0.22301	.	0.321305	0.24412	U	0.038749	T	0.53449	0.1797	L	0.47190	1.495	0.09310	N	1	B	0.24576	0.106	B	0.31337	0.128	T	0.35500	-0.9786	10	0.22706	T	0.39	.	4.9421	0.13971	0.0:0.69:0.0:0.31	.	240	Q9HCS2	CP4FC_HUMAN	I	240	ENSP00000448998:L240I;ENSP00000321821:L240I	ENSP00000321821:L240I	L	+	1	0	CYP4F12	15655373	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.706000	0.25690	0.477000	0.27464	0.484000	0.47621	CTC	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378938.9		+	ENST00000550308.1	Missense_Mutation	SNP	19 : 15794373 - 15794373 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	691	135
DCLK1	9201	broad.mit.edu	37	13	36367610	36367610	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36367610C>T	ENST00000255448.4	-	16	2162	c.1951G>A	c.(1951-1953)Ggc>Agc	p.G651S	DCLK1_ENST00000360631.3_Missense_Mutation_p.G651S|DCLK1_ENST00000379893.1_Missense_Mutation_p.G344S	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	651					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TCTGGGAGGCCATCATCCTGG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	172	174			NA	NA	13		NA											NA				36367610		2203	4300	6503	SO:0001583	missense			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083	9201	9201			2700	protein-coding gene	gene with protein product		604742	doublecortin and CaM kinase-like 1	DCAMKL1	NA	9747029, 10036192	Standard	NM_004734	NM_004734	NA	Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000255448.4:c.1951G>A	13.37:g.36367610C>T	ENSP00000255448:p.Gly651Ser	NA	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	37	CCDS9354.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.70|16.70	3.194910|3.194910	0.58017|0.58017	.|.	.|.	ENSG00000133083|ENSG00000133083	ENST00000399319;ENST00000255448;ENST00000360631;ENST00000379893|ENST00000539451	T;T;T|.	0.38560|.	1.13;1.13;1.13|.	5.49|5.49	5.49|5.49	0.81192|0.81192	Protein kinase-like domain (1);|.	0.111469|.	0.64402|.	D|.	0.000010|.	T|T	0.55561|0.55561	0.1928|0.1928	N|N	0.13140|0.13140	0.3|0.3	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.26975|.	0.165;0.005;0.016;0.165|.	B;B;B;B|.	0.30401|.	0.115;0.009;0.02;0.115|.	T|T	0.62011|0.62011	-0.6944|-0.6944	10|6	0.42905|0.72032	T|D	0.14|0.01	.|.	19.3844|19.3844	0.94551|0.94551	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	344;651;651;344|.	O15075-4;O15075;O15075-2;O15075-3|.	.;DCLK1_HUMAN;.;.|.	S|I	343;651;651;344|609	ENSP00000255448:G651S;ENSP00000353846:G651S;ENSP00000369223:G344S|.	ENSP00000255448:G651S|ENSP00000441665:M609I	G|M	-|-	1|3	0|0	DCLK1|DCLK1	35265610|35265610	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.711000|3.711000	0.54868|0.54868	2.575000|2.575000	0.86900|0.86900	0.650000|0.650000	0.86243|0.86243	GGC|ATG	DCLK1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044483.1		-	ENST00000255448.4	Missense_Mutation	SNP	13 : 36367610 - 36367610 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	352	68
GIMAP4	55303	broad.mit.edu	37	7	150270098	150270098	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150270098G>A	ENST00000255945.2	+	3	1115	c.940G>A	c.(940-942)Gcg>Acg	p.A314T	GIMAP4_ENST00000461940.1_Missense_Mutation_p.A328T	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	314							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AATCATGACAGCGTTACAGAT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	117	123			NA	NA	7		NA											NA				150270098		2203	4300	6503	SO:0001583	missense			AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574	55303	55303		GTPases, IMAP	21872	protein-coding gene	gene with protein product	immune-associated nucleotide-binding protein 1	608087			NA	15474311, 18701445	Standard	NM_018326	NM_018326	NA	Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.940G>A	7.37:g.150270098G>A	ENSP00000255945:p.Ala314Thr	NA		37	CCDS5904.1	.	.	.	.	.	.	.	.	.	.	G	9.633	1.136903	0.21123	.	.	ENSG00000133574	ENST00000255945;ENST00000461940;ENST00000466938	T;T	0.05855	3.41;3.38	4.82	-4.67	0.03319	.	3.210380	0.00977	N	0.003336	T	0.05456	0.0144	L	0.53249	1.67	0.09310	N	1	B;B	0.17465	0.021;0.022	B;B	0.15484	0.013;0.008	T	0.37979	-0.9682	10	0.11794	T	0.64	.	0.1662	0.00108	0.305:0.229:0.233:0.2329	.	328;314	G5E9W9;Q9NUV9	.;GIMA4_HUMAN	T	314;328;246	ENSP00000255945:A314T;ENSP00000419545:A328T	ENSP00000255945:A314T	A	+	1	0	GIMAP4	149901031	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.027000	0.03592	-0.930000	0.03752	-0.169000	0.13324	GCG	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348927.1		+	ENST00000255945.2	Missense_Mutation	SNP	7 : 150270098 - 150270098 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	437	20
ABCC4	10257	broad.mit.edu	37	13	95735417	95735417	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95735417T>A	ENST00000376887.4	-	21	2777	c.2663A>T	c.(2662-2664)gAt>gTt	p.D888V	ABCC4_ENST00000412704.1_Missense_Mutation_p.D841V	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	888	ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GCGCTTCACATCTCTTGACGT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	91	90			NA	NA	13		NA											NA				95735417		2203	4300	6503	SO:0001583	missense			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257	10257	10257		ATP binding cassette transporters / subfamily C	55	protein-coding gene	gene with protein product	canalicular multispecific organic anion transporter (ABC superfamily), bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4), multidrug resistance-associated protein 4, multispecific organic anion transporter B	605250			NA	8894702, 9661885	Standard	NM_005845	NM_005845	NA	Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.2663A>T	13.37:g.95735417T>A	ENSP00000366084:p.Asp888Val	NA	A9Z1Z7|Q8IZN6|Q8NEW8|Q9Y6J2	37	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.143521	0.57044	.	.	ENSG00000125257	ENST00000412704;ENST00000376887	D;D	0.89552	-2.53;-2.53	5.29	5.29	0.74685	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.088371	0.85682	D	0.000000	D	0.94328	0.8177	M	0.82923	2.615	0.80722	D	1	D;D	0.67145	0.987;0.996	D;D	0.69142	0.937;0.962	D	0.95043	0.8180	10	0.72032	D	0.01	.	15.202	0.73147	0.0:0.0:0.0:1.0	.	841;888	O15439-2;O15439	.;MRP4_HUMAN	V	841;888	ENSP00000388657:D841V;ENSP00000366084:D888V	ENSP00000366084:D888V	D	-	2	0	ABCC4	94533418	1.000000	0.71417	0.989000	0.46669	0.110000	0.19582	7.520000	0.81821	2.120000	0.65058	0.460000	0.39030	GAT	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045478.2		-	ENST00000376887.4	Missense_Mutation	SNP	13 : 95735417 - 95735417 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	454	92
C3orf17	25871	broad.mit.edu	37	3	112729539	112729539	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112729539T>G	ENST00000314400.5	-	7	1117	c.926A>C	c.(925-927)gAa>gCa	p.E309A	C3orf17_ENST00000393857.2_Missense_Mutation_p.E173A|C3orf17_ENST00000383675.2_Missense_Mutation_p.E239A|C3orf17_ENST00000472762.1_5'UTR	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	309						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						CACATCAAATTCTGATGACTC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	78	79			NA	NA	3		NA											NA				112729539		2203	4300	6503	SO:0001583	missense			AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608	25871	25871			24496	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_015412	NR_027794	NA	Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.926A>C	3.37:g.112729539T>G	ENSP00000320251:p.Glu309Ala	NA	D3DN69|Q68DM6|Q9H7U0|Q9UFM4	37	CCDS33824.1	.	.	.	.	.	.	.	.	.	.	T	8.710	0.911758	0.17907	.	.	ENSG00000163608	ENST00000314400;ENST00000383675;ENST00000393857	T;T;T	0.18174	2.49;2.49;2.23	5.87	0.443	0.16587	.	0.932998	0.09236	N	0.829848	T	0.12433	0.0302	L	0.60455	1.87	0.23657	N	0.997183	B;B;B;B	0.33171	0.004;0.017;0.228;0.4	B;B;B;B	0.30855	0.007;0.012;0.121;0.121	T	0.31971	-0.9924	10	0.16896	T	0.51	-9.1912	0.7962	0.01067	0.1596:0.2222:0.164:0.4543	.	198;106;239;309	E7EN80;E7EQH6;Q6NW34-2;Q6NW34	.;.;.;CC017_HUMAN	A	309;239;173	ENSP00000320251:E309A;ENSP00000373173:E239A;ENSP00000377438:E173A	ENSP00000320251:E309A	E	-	2	0	C3orf17	114212229	0.998000	0.40836	0.997000	0.53966	0.915000	0.54546	0.216000	0.17585	0.463000	0.27118	0.533000	0.62120	GAA	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354405.3		-	ENST00000314400.5	Missense_Mutation	SNP	3 : 112729539 - 112729539 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	264	50
CASP5	838	broad.mit.edu	37	11	104872894	104872894	+	Missense_Mutation	SNP	C	C	T	rs142438968		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104872894C>T	ENST00000260315.3	-	5	577	c.578G>A	c.(577-579)cGc>cAc	p.R193H	CASP5_ENST00000444749.2_Missense_Mutation_p.R135H|CASP5_ENST00000393139.2_Silent_p.T123T|CASP5_ENST00000531367.1_Missense_Mutation_p.R51H|CASP5_ENST00000393141.2_Missense_Mutation_p.R206H|CASP5_ENST00000418434.1_Missense_Mutation_p.R51H|CASP5_ENST00000526056.1_Missense_Mutation_p.R206H			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	193					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GAGAGCCAGGCGTCTGCGGTC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	2,4402		0,2,2200	129	118	122		404,152,617,578	4	0.2	11	dbSNP_134	122	0,8598		0,0,4299	no	missense,missense,missense,missense	CASP5	NM_001136109.1,NM_001136110.1,NM_001136112.1,NM_004347.3	29,29,29,29	0,2,6499	TT,TC,CC	NA	0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	135/377,51/293,206/448,193/435	104872894	2,13000	2202	4299	6501	SO:0001583	missense				CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757	838	838		Caspases	1506	protein-coding gene	gene with protein product		602665	caspase 5, apoptosis-related cysteine protease		NA	7797592, 9250871	Standard	NM_004347	NM_004347	NA	Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.578G>A	11.37:g.104872894C>T	ENSP00000260315:p.Arg193His	NA	B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	37	CCDS8328.2	.	.	.	.	.	.	.	.	.	.	.	13.33	2.204119	0.38905	4.54E-4	0.0	ENSG00000137757	ENST00000393141;ENST00000418434;ENST00000260315;ENST00000444749;ENST00000526056;ENST00000531367	T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86	3.98	3.98	0.46160	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.000000	0.85682	D	0.000000	T	0.59891	0.2227	M	0.93638	3.44	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.982;0.993;0.993;0.988	T	0.72293	-0.4336	10	0.72032	D	0.01	.	13.923	0.63945	0.0:1.0:0.0:0.0	.	51;135;193;206	P51878-3;P51878-2;P51878;P51878-5	.;.;CASP5_HUMAN;.	H	206;51;193;135;206;51	ENSP00000376849:R206H;ENSP00000398130:R51H;ENSP00000260315:R193H;ENSP00000388365:R135H;ENSP00000436877:R206H;ENSP00000434471:R51H	ENSP00000260315:R193H	R	-	2	0	CASP5	104378104	0.077000	0.21312	0.156000	0.22583	0.057000	0.15508	1.320000	0.33666	1.942000	0.56320	0.411000	0.27672	CGC	CASP5-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109397.2		-	ENST00000260315.3	Missense_Mutation	SNP	11 : 104872894 - 104872894 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	613	102
FLII	2314	broad.mit.edu	37	17	18150248	18150248	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18150248T>C	ENST00000327031.4	-	22	3020	c.2795A>G	c.(2794-2796)gAc>gGc	p.D932G	FLII_ENST00000578558.1_Intron|FLII_ENST00000545457.2_Missense_Mutation_p.D877G|FLII_ENST00000579294.1_Missense_Mutation_p.D921G|FLII_ENST00000379450.4_Missense_Mutation_p.D846G	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	932	Glu-rich.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GACGTAGCAGTCCTGCGTGTA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	98	103			NA	NA	17		NA											NA				18150248		2203	4300	6503	SO:0001583	missense			U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731	2314	2314			3750	protein-coding gene	gene with protein product		600362	flightless I (Drosophila) homolog		NA	7825574	Standard	NM_002018	NM_002018	NA	Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.2795A>G	17.37:g.18150248T>C	ENSP00000324573:p.Asp932Gly	NA		37	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.507034	0.64410	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T;T	0.38077	1.68;1.16;1.68	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.63954	0.2555	M	0.83953	2.67	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.996;0.999;0.997	D;D;D;D;D	0.83275	0.996;0.996;0.993;0.979;0.989	T	0.70223	-0.4931	10	0.87932	D	0	-37.3956	15.4149	0.74960	0.0:0.0:0.0:1.0	.	846;846;811;932;901	E7EPM0;B4DIL0;F5H407;Q13045;B4DIX0	.;.;.;FLII_HUMAN;.	G	932;811;846	ENSP00000324573:D932G;ENSP00000438536:D811G;ENSP00000368763:D846G	ENSP00000324573:D932G	D	-	2	0	FLII	18090973	1.000000	0.71417	1.000000	0.80357	0.173000	0.22820	5.625000	0.67770	2.045000	0.60652	0.459000	0.35465	GAC	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132032.2		-	ENST00000327031.4	Missense_Mutation	SNP	17 : 18150248 - 18150248 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	465	46
DGAT1	8694	broad.mit.edu	37	8	145541760	145541760	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145541760C>T	ENST00000332324.4	-	8	1022	c.749G>A	c.(748-750)cGc>cAc	p.R250H	DGAT1_ENST00000531896.1_Silent_p.P280P	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	250					triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GTCCTCACCGCGGTAGGTCAG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	60	59			NA	NA	8		NA											NA				145541760		2203	4296	6499	SO:0001583	missense			AF059202	CCDS6420.1	8q24.3	2014-05-06	2010-06-24	2001-11-09	ENSG00000185000	ENSG00000185000	8694	8694	2.3.1.20		2843	protein-coding gene	gene with protein product		604900	diacylglycerol O-acyltransferase homolog 1 (mouse)		NA	9756920	Standard	NM_012079	NM_012079	NA	Approved	ARGP1, DGAT	uc003zbv.3	O75907	OTTHUMG00000174606	ENST00000332324.4:c.749G>A	8.37:g.145541760C>T	ENSP00000332258:p.Arg250His	NA	B2RWQ2|D3DWL6|Q96BB8	37	CCDS6420.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214885	0.39102	.	.	ENSG00000185000	ENST00000332324	T	0.73047	-0.71	4.68	1.75	0.24633	.	0.442530	0.22651	N	0.057328	T	0.67841	0.2936	L	0.52364	1.645	0.47123	D	0.999321	D	0.55605	0.972	P	0.51833	0.681	T	0.64424	-0.6411	10	0.46703	T	0.11	-5.946	6.3125	0.21173	0.0:0.6649:0.1536:0.1815	.	250	O75907	DGAT1_HUMAN	H	250	ENSP00000332258:R250H	ENSP00000332258:R250H	R	-	2	0	DGAT1	145512568	0.152000	0.22762	0.078000	0.20375	0.589000	0.36550	0.550000	0.23345	0.554000	0.29061	0.484000	0.47621	CGC	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382059.3		-	ENST00000332324.4	Missense_Mutation	SNP	8 : 145541760 - 145541760 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	412	61
OBSCN	84033	broad.mit.edu	37	1	228565678	228565678	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228565678C>A	ENST00000570156.2	+	114	26489	c.26415C>A	c.(26413-26415)atC>atA	p.I8805I	OBSCN_ENST00000422127.1_Silent_p.I7850I|OBSCN_ENST00000366707.4_Silent_p.I5484I	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7850					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGACAGACATCTGGGCCATCG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	81	79			NA	NA	1		NA											NA				228565678		2048	4204	6252	SO:0001819	synonymous_variant			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358	84033	84033		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	15719	protein-coding gene	gene with protein product		608616			NA	11448995, 11814696	Standard	NM_052843	NM_001098623	NA	Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000570156.2:c.26415C>A	1.37:g.228565678C>A		NA	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	37	CCDS59204.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356963	0.41801	.	.	ENSG00000154358	ENST00000441106	.	.	.	5.17	3.11	0.35812	.	.	.	.	.	T	0.58736	0.2143	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55010	-0.8207	4	.	.	.	.	9.1082	0.36712	0.0:0.7162:0.1335:0.1503	.	.	.	.	M	2465	.	.	L	+	1	2	OBSCN	226632301	0.916000	0.31088	0.999000	0.59377	0.670000	0.39368	0.070000	0.14573	1.143000	0.42306	0.313000	0.20887	CTG	OBSCN-011	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421354.3		+	ENST00000570156.2	Silent	SNP	1 : 228565678 - 228565678 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	247	20
PRKAG3	53632	broad.mit.edu	37	2	219692564	219692564	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219692564G>A	ENST00000529249.1	-	7	1127	c.812C>T	c.(811-813)aCc>aTc	p.T271I	PRKAG3_ENST00000545803.1_Missense_Mutation_p.T87I|PRKAG3_ENST00000392098.3_Intron|PRKAG3_ENST00000439262.2_Missense_Mutation_p.T246I			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	271					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCCCTCCAGGTCTCAATCTT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	111	108			NA	NA	2		NA											NA				219692564		2203	4300	6503	SO:0001583	missense			AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592	53632	53632			9387	protein-coding gene	gene with protein product		604976			NA	10818001	Standard		NM_017431	NA	Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.812C>T	2.37:g.219692564G>A	ENSP00000436068:p.Thr271Ile	NA	Q4QQG8|Q4V779|Q9NRL1	37	CCDS2424.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187793	0.78789	.	.	ENSG00000115592	ENST00000439262;ENST00000545803;ENST00000529249	D;D;D	0.91945	-2.94;-2.94;-2.94	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	D	0.96880	0.8981	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97857	1.0278	10	0.72032	D	0.01	-24.4549	16.1833	0.81925	0.0:0.0:1.0:0.0	.	271	Q9UGI9	AAKG3_HUMAN	I	246;87;271	ENSP00000397133:T246I;ENSP00000444536:T87I;ENSP00000436068:T271I	ENSP00000233944:T271I	T	-	2	0	PRKAG3	219400808	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.234000	0.95347	2.283000	0.76528	0.655000	0.94253	ACC	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385992.1		-	ENST00000529249.1	Missense_Mutation	SNP	2 : 219692564 - 219692564 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	283	37
POLD2	5425	broad.mit.edu	37	7	44154541	44154541	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44154541G>T	ENST00000406581.2	-	12	1902	c.1253C>A	c.(1252-1254)cCt>cAt	p.P418H	POLD2_ENST00000452185.1_Missense_Mutation_p.P418H|POLD2_ENST00000223361.3_Missense_Mutation_p.P404H	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	418					base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						CTGGTCCTCAGGACCTGCAAA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	32	32			NA	NA	7		NA											NA				44154541		2203	4298	6501	SO:0001583	missense				CCDS5477.1, CCDS75586.1	7p13	2012-05-18	2012-05-18		ENSG00000106628	ENSG00000106628	5425	5425		DNA polymerases	9176	protein-coding gene	gene with protein product	Pol delta B subunit (p50), DNA polymerase delta subunit p50	600815	polymerase (DNA directed), delta 2, regulatory subunit (50kD), polymerase (DNA directed), delta 2, regulatory subunit 50kDa		NA	8530069	Standard	NM_001127218	NM_001127218	NA	Approved		uc003tkf.5	P49005	OTTHUMG00000022909	ENST00000406581.2:c.1253C>A	7.37:g.44154541G>T	ENSP00000386105:p.Pro418His	NA		37	CCDS5477.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.296893	0.60086	.	.	ENSG00000106628	ENST00000406581;ENST00000223361;ENST00000452185	T;T;T	0.45276	0.91;0.9;0.91	5.8	4.93	0.64822	.	0.114840	0.64402	D	0.000011	T	0.51517	0.1679	M	0.66939	2.045	0.47819	D	0.999527	D;D	0.56287	0.958;0.975	P;P	0.55615	0.63;0.78	T	0.52786	-0.8529	10	0.46703	T	0.11	-12.3013	7.5049	0.27538	0.0784:0.0:0.6619:0.2596	.	418;404	P49005;F8W8R3	DPOD2_HUMAN;.	H	418;404;418	ENSP00000386105:P418H;ENSP00000223361:P404H;ENSP00000395231:P418H	ENSP00000223361:P404H	P	-	2	0	POLD2	44121066	0.813000	0.29090	0.988000	0.46212	0.950000	0.60333	2.801000	0.47908	1.478000	0.48253	0.655000	0.94253	CCT	POLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250994.2		-	ENST00000406581.2	Missense_Mutation	SNP	7 : 44154541 - 44154541 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	106	11
MMEL1	79258	broad.mit.edu	37	1	2523018	2523018	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2523018C>T	ENST00000378412.3	-	23	2379	c.2218G>A	c.(2218-2220)Gtc>Atc	p.V740I	MMEL1_ENST00000288709.6_Missense_Mutation_p.V731I|MMEL1_ENST00000502556.1_Missense_Mutation_p.V583I			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	740					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GGACTGTGGACGTCTGTCTTG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	155	158			NA	NA	1		NA											NA				2523018		2203	4300	6503	SO:0001583	missense			AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606	79258	79258			14668	protein-coding gene	gene with protein product			membrane metallo-endopeptidase-like 2	MMEL2	NA		Standard	NM_033467	NM_033467	NA	Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.2218G>A	1.37:g.2523018C>T	ENSP00000367668:p.Val740Ile	NA	B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	37	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	C	9.177	1.022710	0.19433	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	D;D;D	0.91068	-2.78;-2.78;-2.78	3.87	3.87	0.44632	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.205916	0.42682	D	0.000667	D	0.88753	0.6522	M	0.77313	2.365	0.41580	D	0.988738	P	0.35780	0.52	B	0.30029	0.11	D	0.89714	0.3914	10	0.54805	T	0.06	-42.3512	12.6873	0.56954	0.0:1.0:0.0:0.0	.	740	Q495T6	MMEL1_HUMAN	I	583;731;740;583	ENSP00000288709:V731I;ENSP00000367668:V740I;ENSP00000422492:V583I	ENSP00000288709:V731I	V	-	1	0	MMEL1	2512878	0.992000	0.36948	0.832000	0.32986	0.084000	0.17831	3.089000	0.50183	1.990000	0.58119	0.561000	0.74099	GTC	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000002395.2		-	ENST00000378412.3	Missense_Mutation	SNP	1 : 2523018 - 2523018 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1038	219
DICER1	23405	broad.mit.edu	37	14	95569987	95569987	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95569987T>G	ENST00000526495.1	-	23	4037	c.3746A>C	c.(3745-3747)aAa>aCa	p.K1249T	DICER1_ENST00000393063.1_Missense_Mutation_p.K1249T|DICER1_ENST00000527414.1_Missense_Mutation_p.K1249T|DICER1_ENST00000556045.1_Missense_Mutation_p.K147T|DICER1_ENST00000541352.1_Missense_Mutation_p.K1249T|DICER1_ENST00000343455.3_Missense_Mutation_p.K1249T			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1249					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TGAGGTAGATTTGTTAGCATT	0.453		NA	Mis F, N		sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	dicer 1, ribonuclease type III 		E, M, O	0													147	137	140			NA	NA	14		NA											NA				95569987		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697	23405	23405			17098	protein-coding gene	gene with protein product	dicer 1, double-stranded RNA-specific endoribonuclease	606241	Dicer1, Dcr-1 homolog (Drosophila), multinodular goitre 1	MNG1	NA	10051563, 10786632, 21205968	Standard		NM_177438	NA	Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.3746A>C	14.37:g.95569987T>G	ENSP00000437256:p.Lys1249Thr	NA	A7E2D3|O95943|Q9UQ02	37	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	T	13.38	2.220878	0.39201	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	T;T;T;T;D;T	0.88046	0.3;0.3;0.3;0.3;-2.33;0.61	5.42	-10.7	0.00240	.	1.103310	0.06649	N	0.762409	T	0.69278	0.3093	N	0.08118	0	0.32462	N	0.543931	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.46624	-0.9178	10	0.16420	T	0.52	-0.1329	14.2372	0.65934	0.0:0.1201:0.6567:0.2232	.	147;1249;1249	B3KRG4;E0AD28;Q9UPY3	.;.;DICER_HUMAN	T	1249;1249;1249;1249;147;1249	ENSP00000343745:K1249T;ENSP00000437256:K1249T;ENSP00000376783:K1249T;ENSP00000435681:K1249T;ENSP00000451041:K147T;ENSP00000444719:K1249T	ENSP00000343745:K1249T	K	-	2	0	DICER1	94639740	0.926000	0.31397	0.456000	0.27044	0.997000	0.91878	-0.044000	0.12023	-2.268000	0.00685	0.459000	0.35465	AAA	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387997.1		-	ENST00000526495.1	Missense_Mutation	SNP	14 : 95569987 - 95569987 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	670	122
ZNF337	26152	broad.mit.edu	37	20	25657080	25657080	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25657080G>A	ENST00000376436.1	-	4	1383	c.844C>T	c.(844-846)Cat>Tat	p.H282Y	ZNF337_ENST00000538750.1_Missense_Mutation_p.H250Y|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.H282Y|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA					zinc finger protein 337	NA										breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTTCTCTCATGCACAGTGAGG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													180	168	172			NA	NA	20		NA											NA				25657080		2203	4300	6503	SO:0001583	missense				CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684	26152	26152		Zinc fingers, C2H2-type, -	15809	protein-coding gene	gene with protein product					NA		Standard		XM_005260702	NA	Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.844C>T	20.37:g.25657080G>A	ENSP00000365619:p.His282Tyr	NA		37	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	22.1	4.244414	0.79912	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	D;D;D	0.86769	-2.17;-2.17;-2.17	1.15	1.15	0.20763	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94892	0.8349	H	0.97983	4.12	0.30488	N	0.77168	D;D	0.89917	1.0;1.0	D;D	0.68192	0.956;0.941	D	0.89548	0.3797	9	0.87932	D	0	.	8.2365	0.31629	0.0:0.0:1.0:0.0	.	250;282	B4DSM2;Q9Y3M9	.;ZN337_HUMAN	Y	282;282;282;250	ENSP00000365619:H282Y;ENSP00000252979:H282Y;ENSP00000442181:H250Y	ENSP00000252979:H282Y	H	-	1	0	ZNF337	25605080	0.998000	0.40836	0.046000	0.18839	0.954000	0.61252	3.871000	0.56077	0.935000	0.37341	0.306000	0.20318	CAT	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078454.1		-	ENST00000376436.1	Missense_Mutation	SNP	20 : 25657080 - 25657080 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	958	170
GPRC6A	222545	broad.mit.edu	37	6	117121752	117121752	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117121752G>A	ENST00000310357.3	-	4	1564	c.1543C>T	c.(1543-1545)Ctt>Ttt	p.L515F	GPRC6A_ENST00000530250.1_Missense_Mutation_p.L340F|GPRC6A_ENST00000368549.3_Intron	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	515					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GTTACCTTAAGATTCCTGAAC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	140	148			NA	NA	6		NA											NA				117121752		2203	4300	6503	SO:0001583	missense			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612	NA	222545		GPCR / Class C : Calcium-sensing receptors	18510	protein-coding gene	gene with protein product			G protein-coupled receptor, family C, group 6, member A		NA		Standard		NM_001286354	NA	Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.1543C>T	6.37:g.117121752G>A	ENSP00000309493:p.Leu515Phe	NA	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	37	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	G	8.175	0.792635	0.16258	.	.	ENSG00000173612	ENST00000310357;ENST00000530250	D;D	0.90955	-2.51;-2.76	5.35	4.49	0.54785	.	0.000000	0.44483	D	0.000448	T	0.79015	0.4375	N	0.08118	0	0.36485	D	0.868098	D;D	0.56968	0.978;0.974	P;P	0.54815	0.761;0.553	T	0.83025	-0.0165	10	0.56958	D	0.05	.	5.8547	0.18712	0.3116:0.0:0.6884:0.0	.	340;515	Q5T6X5-2;Q5T6X5	.;GPC6A_HUMAN	F	515;340	ENSP00000309493:L515F;ENSP00000433465:L340F	ENSP00000309493:L515F	L	-	1	0	GPRC6A	117228445	1.000000	0.71417	1.000000	0.80357	0.251000	0.25915	2.238000	0.43070	1.498000	0.48600	0.585000	0.79938	CTT	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041966.2		-	ENST00000310357.3	Missense_Mutation	SNP	6 : 117121752 - 117121752 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	533	100
SLC5A9	200010	broad.mit.edu	37	1	48705156	48705156	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:48705156G>A	ENST00000236495.5	+	13	1749	c.1699G>A	c.(1699-1701)Gcc>Acc	p.A567T	SLC5A9_ENST00000438567.2_Missense_Mutation_p.A542T|SLC5A9_ENST00000533824.1_Missense_Mutation_p.A563T	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	542						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CGGGCTCACTGCCATCGTCAT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													267	230	242			NA	NA	1		NA											NA				48705156		2203	4300	6503	SO:0001583	missense			BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834	200010	200010		Solute carriers	22146	protein-coding gene	gene with protein product			solute carrier family 5 (sodium/glucose cotransporter), member 9		NA		Standard	XM_117174	NM_001011547	NA	Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000236495.5:c.1699G>A	1.37:g.48705156G>A	ENSP00000236495:p.Ala567Thr	NA	B3KY87|Q5TET3	37	CCDS44136.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886502	0.33348	.	.	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495	T;T;T	0.79554	-1.28;-1.28;-1.28	5.3	3.4	0.38934	.	0.589185	0.19332	N	0.116873	T	0.65386	0.2686	N	0.20685	0.6	0.09310	N	0.999993	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.002;0.002;0.003	T	0.50508	-0.8820	10	0.22109	T	0.4	.	10.7877	0.46415	0.2142:0.0:0.7858:0.0	.	563;542;567	E9PJ08;Q2M3M2;E9PAK4	.;SC5A9_HUMAN;.	T	563;542;567	ENSP00000431900:A563T;ENSP00000401730:A542T;ENSP00000236495:A567T	ENSP00000236495:A567T	A	+	1	0	SLC5A9	48477743	0.001000	0.12720	0.762000	0.31397	0.942000	0.58702	0.943000	0.29030	1.458000	0.47871	0.650000	0.86243	GCC	SLC5A9-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021841.5		+	ENST00000236495.5	Missense_Mutation	SNP	1 : 48705156 - 48705156 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	890	96
SF1	7536	broad.mit.edu	37	11	64537827	64537827	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64537827C>T	ENST00000433274.2	-	4	520	c.212G>A	c.(211-213)cGa>cAa	p.R71Q	SF1_ENST00000227503.9_Missense_Mutation_p.R97Q|SF1_ENST00000377390.3_Missense_Mutation_p.R97Q|SF1_ENST00000422298.2_5'UTR|SF1_ENST00000377387.1_Missense_Mutation_p.R222Q|SF1_ENST00000377394.3_Missense_Mutation_p.R97Q|SF1_ENST00000334944.5_Missense_Mutation_p.R97Q	NM_001178031.1	NP_001171502.1	Q15637	SF01_HUMAN	splicing factor 1	97					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GCGGAACTCTCGGGTGTTAAG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	117	117			NA	NA	11		NA											NA				64537827		2201	4297	6498	SO:0001583	missense			D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066	7536	7536		Zinc fingers, CCHC domain containing	12950	protein-coding gene	gene with protein product		601516	zinc finger protein 162	ZNF162	NA	7912130, 9573336	Standard	NM_004630	NM_201997	NA	Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000433274.2:c.212G>A	11.37:g.64537827C>T	ENSP00000396793:p.Arg71Gln	NA	Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	37	CCDS53660.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698736	0.88830	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000433274	T;T;T;T;T;T	0.64618	-0.11;-0.02;0.0;0.18;-0.05;-0.01	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.82328	0.5013	M	0.88105	2.93	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;P;D;D	0.69654	0.965;0.935;0.903;0.955;0.955	D	0.85181	0.1004	10	0.87932	D	0	.	17.5684	0.87927	0.0:1.0:0.0:0.0	.	97;97;97;97;222	Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;SF01_HUMAN;.;.	Q	222;97;97;97;97;71	ENSP00000366604:R222Q;ENSP00000366607:R97Q;ENSP00000227503:R97Q;ENSP00000366611:R97Q;ENSP00000334414:R97Q;ENSP00000396793:R71Q	ENSP00000227503:R97Q	R	-	2	0	SF1	64294403	1.000000	0.71417	0.950000	0.38849	0.975000	0.68041	7.264000	0.78432	2.748000	0.94277	0.462000	0.41574	CGA	SF1-016	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157360.4		-	ENST00000433274.2	Missense_Mutation	SNP	11 : 64537827 - 64537827 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	735	60
KIDINS220	57498	broad.mit.edu	37	2	8871237	8871237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8871237C>T	ENST00000256707.3	-	30	5110	c.4929G>A	c.(4927-4929)atG>atA	p.M1643I	KIDINS220_ENST00000427284.1_Missense_Mutation_p.M1624I|KIDINS220_ENST00000418530.1_Missense_Mutation_p.M1544I|KIDINS220_ENST00000473731.1_Missense_Mutation_p.M1624I	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1643					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AACAAATGGACATCCGAGCTA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	77	80			NA	NA	2		NA											NA				8871237		1945	4131	6076	SO:0001583	missense			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313	57498	57498		Ankyrin repeat domain containing	29508	protein-coding gene	gene with protein product	ankyrin repeat-rich membrane-spanning protein	615759			NA	10998417, 10574462	Standard	NM_020738	NM_020738	NA	Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.4929G>A	2.37:g.8871237C>T	ENSP00000256707:p.Met1643Ile	NA	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	37	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.891470	0.91889	.	.	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731	T;T;T;T	0.69685	-0.41;-0.41;-0.42;-0.41	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.76463	0.3991	L	0.34521	1.04	0.58432	D	0.999998	D;D;D	0.60575	0.979;0.964;0.988	D;D;D	0.73708	0.981;0.968;0.981	T	0.77169	-0.2686	10	0.87932	D	0	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	1544;1643;497	Q9ULH0-2;Q9ULH0;B4DG84	.;KDIS_HUMAN;.	I	1643;1624;1544;1624	ENSP00000256707:M1643I;ENSP00000411849:M1624I;ENSP00000414923:M1544I;ENSP00000418974:M1624I	ENSP00000256707:M1643I	M	-	3	0	KIDINS220	8788688	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.283000	0.78640	2.861000	0.98227	0.655000	0.94253	ATG	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323408.2		-	ENST00000256707.3	Missense_Mutation	SNP	2 : 8871237 - 8871237 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	441	73
XRN2	22803	broad.mit.edu	37	20	21346218	21346218	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21346218G>T	ENST00000377191.3	+	26	2427	c.2332G>T	c.(2332-2334)Gca>Tca	p.A778S	XRN2_ENST00000539513.1_Missense_Mutation_p.A724S|XRN2_ENST00000430571.2_Missense_Mutation_p.A702S	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	778					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CAGAAAGCCAGCAGCAGTACT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	94	94			NA	NA	20		NA											NA				21346218		2203	4300	6503	SO:0001583	missense			AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	22803	22803	3.1.13.-		12836	protein-coding gene	gene with protein product		608851			NA	10409438	Standard	NM_012255	NM_012255	NA	Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.2332G>T	20.37:g.21346218G>T	ENSP00000366396:p.Ala778Ser	NA	Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	37	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	9.842	1.191333	0.21954	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.17854	2.25;2.25;2.25	5.95	4.02	0.46733	.	0.315883	0.38837	N	0.001552	T	0.07999	0.0200	N	0.16903	0.455	0.26128	N	0.980453	B	0.02656	0.0	B	0.01281	0.0	T	0.38222	-0.9671	10	0.09084	T	0.74	-5.6952	5.5639	0.17160	0.1286:0.1125:0.6428:0.1161	.	778	Q9H0D6	XRN2_HUMAN	S	778;702;724	ENSP00000366396:A778S;ENSP00000413548:A702S;ENSP00000441113:A724S	ENSP00000366396:A778S	A	+	1	0	XRN2	21294218	0.996000	0.38824	0.998000	0.56505	0.486000	0.33341	0.564000	0.23563	0.867000	0.35654	-0.136000	0.14681	GCA	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078273.2		+	ENST00000377191.3	Missense_Mutation	SNP	20 : 21346218 - 21346218 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	473	76
KLHL36	79786	broad.mit.edu	37	16	84691069	84691069	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84691069C>T	ENST00000564996.1	+	3	797	c.656C>T	c.(655-657)aCg>aTg	p.T219M	KLHL36_ENST00000258157.5_Missense_Mutation_p.T219M	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	219	BACK.									endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CAGTGGCTGACGCAGCAGCCC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	25	26			NA	NA	16		NA											NA				84691069		2184	4287	6471	SO:0001583	missense			AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686	79786	79786		Kelch-like, BTB/POZ domain containing	17844	protein-coding gene	gene with protein product			chromosome 16 open reading frame 44, kelch-like 36 (Drosophila)	C16orf44	NA		Standard		NM_024731	NA	Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.656C>T	16.37:g.84691069C>T	ENSP00000456743:p.Thr219Met	NA	Q8N5G6|Q9H9U6	37	CCDS10948.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269783	0.59540	.	.	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.69435	-0.4	5.53	5.53	0.82687	BTB/Kelch-associated (2);	0.180710	0.56097	D	0.000033	T	0.72203	0.3431	L	0.28274	0.84	0.47308	D	0.999388	D;D	0.71674	0.998;0.998	D;P	0.63703	0.917;0.891	T	0.74999	-0.3472	10	0.62326	D	0.03	.	18.4595	0.90734	0.0:1.0:0.0:0.0	.	219;219	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	M	219	ENSP00000258157:T219M	ENSP00000258157:T219M	T	+	2	0	KLHL36	83248570	0.947000	0.32204	0.999000	0.59377	0.989000	0.77384	3.012000	0.49575	2.587000	0.87381	0.563000	0.77884	ACG	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269084.2		+	ENST00000564996.1	Missense_Mutation	SNP	16 : 84691069 - 84691069 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	333	102
KIAA1958	158405	broad.mit.edu	37	9	115421560	115421560	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115421560G>A	ENST00000337530.6	+	4	1658	c.1362G>A	c.(1360-1362)ttG>ttA	p.L454L	KIAA1958_ENST00000536272.1_Silent_p.L482L	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	454										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CAGTGAAGTTGAACGAGCTGC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	74	78			NA	NA	9		NA											NA				115421560		2203	4300	6503	SO:0001819	synonymous_variant			AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185	158405	158405			23427	protein-coding gene	gene with protein product					NA		Standard	NM_133465	NM_001287038	NA	Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.1362G>A	9.37:g.115421560G>A		NA	Q2M336|Q5T252|Q8TF43|Q96N02	37	CCDS35108.1																																																																																			KIAA1958-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053690.1		+	ENST00000337530.6	Silent	SNP	9 : 115421560 - 115421560 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	513	85
TMTC4	84899	broad.mit.edu	37	13	101287360	101287360	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101287360C>T	ENST00000328767.5	-	8	986	c.902G>A	c.(901-903)cGt>cAt	p.R301H	TMTC4_ENST00000376234.3_Missense_Mutation_p.R412H|TMTC4_ENST00000342624.5_Missense_Mutation_p.R431H|TMTC4_ENST00000462211.1_5'UTR			Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	412						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GTAGAGGACACGCTCTGCGAC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	68	70			NA	NA	13		NA											NA				101287360		2203	4300	6503	SO:0001583	missense				CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247	84899	84899		Tetratricopeptide (TTC) repeat domain containing	25904	protein-coding gene	gene with protein product					NA		Standard	NM_032813	XM_005254082	NA	Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000328767.5:c.902G>A	13.37:g.101287360C>T	ENSP00000365409:p.Arg301His	NA	A6NLI7|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	37		.	.	.	.	.	.	.	.	.	.	C	27.0	4.789938	0.90367	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.69685	-0.42;-0.42;-0.42	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.87985	0.6316	H	0.95611	3.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.995;0.997;0.997	D	0.91246	0.5025	10	0.87932	D	0	.	19.425	0.94737	0.0:1.0:0.0:0.0	.	301;412;412;431	B7Z666;Q5T4D3-2;Q5T4D3;Q5T4D3-3	.;.;TMTC4_HUMAN;.	H	412;431;301	ENSP00000365408:R412H;ENSP00000343871:R431H;ENSP00000365409:R301H	ENSP00000365409:R301H	R	-	2	0	TMTC4	100085361	1.000000	0.71417	0.955000	0.39395	0.438000	0.31896	7.693000	0.84214	2.584000	0.87258	0.563000	0.77884	CGT	TMTC4-009	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000355027.1		-	ENST00000328767.5	Missense_Mutation	SNP	13 : 101287360 - 101287360 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	211	26
DAGLB	221955	broad.mit.edu	37	7	6474563	6474563	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6474563G>T	ENST00000425398.2	-	3	511				DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000297056.6_Missense_Mutation_p.P170T|DAGLB_ENST00000428902.2_Missense_Mutation_p.P43T|DAGLB_ENST00000436575.1_Missense_Mutation_p.P129T	NM_001142936.1	NP_001136408.1	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	NA					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		AGGTGGCTGGGGCCGGCAGAG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	102	102			NA	NA	7		NA											NA				6474563		2203	4300	6503	SO:0001627	intron_variant			AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	221955	221955	3.1.1.-		28923	protein-coding gene	gene with protein product		614016			NA		Standard	NM_139179	NM_139179	NA	Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000425398.2:c.419+1429C>A	7.37:g.6474563G>T		NA	A4D2P3|B3KV90|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	37	CCDS47536.1	.	.	.	.	.	.	.	.	.	.	G	5.243	0.230268	0.09969	.	.	ENSG00000164535	ENST00000297056;ENST00000436575;ENST00000471132;ENST00000428902	T;T	0.41758	0.99;1.0	5.26	4.3	0.51218	.	0.299368	0.33895	N	0.004445	T	0.26011	0.0634	L	0.33485	1.01	0.18873	N	0.999985	B	0.10296	0.003	B	0.06405	0.002	T	0.12451	-1.0547	10	0.12430	T	0.62	.	6.8558	0.24040	0.0795:0.1094:0.6567:0.1545	.	170	Q8NCG7	DGLB_HUMAN	T	170;129;170;43	ENSP00000297056:P170T;ENSP00000404785:P129T	ENSP00000297056:P170T	P	-	1	0	DAGLB	6441088	0.299000	0.24426	0.079000	0.20413	0.977000	0.68977	0.768000	0.26590	2.443000	0.82685	0.591000	0.81541	CCC	DAGLB-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341922.1		-	ENST00000425398.2	Intron	SNP	7 : 6474563 - 6474563 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	545	118
SLC27A6	28965	broad.mit.edu	37	5	128302184	128302184	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:128302184C>T	ENST00000262462.4	+	1	1364	c.354C>T	c.(352-354)ttC>ttT	p.F118F	SLC27A6_ENST00000506176.1_Silent_p.F118F|SLC27A6_ENST00000395266.1_Silent_p.F118F			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	118					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGCCGGACTTCGTTCACGTGT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	62	69			NA	NA	5		NA											NA				128302184		2203	4300	6503	SO:0001819	synonymous_variant			AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396	28965	28965		Acyl-CoA synthetase family, Solute carriers	11000	protein-coding gene	gene with protein product	fatty-acid-Coenzyme A ligase, very long-chain 2	604196			NA	12556534, 10479480	Standard	NM_014031	XM_005271967	NA	Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.354C>T	5.37:g.128302184C>T		NA	Q6IAM5|Q7Z6E6|Q86YF6	37	CCDS4145.1																																																																																			SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250980.1		+	ENST00000262462.4	Silent	SNP	5 : 128302184 - 128302184 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	225	19
MICAL1	64780	broad.mit.edu	37	6	109768325	109768325	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109768325G>T	ENST00000358807.3	-	17	2489	c.2178C>A	c.(2176-2178)acC>acA	p.T726T	MICAL1_ENST00000368952.4_Silent_p.T745T|MICAL1_ENST00000358577.3_Silent_p.T640T	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	726	LIM zinc-binding.				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TGGCCTCACAGGTATGGCAGC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	77	75			NA	NA	6		NA											NA				109768325		2203	4300	6503	SO:0001819	synonymous_variant			AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596	64780	64780			20619	protein-coding gene	gene with protein product		607129	NEDD9 interacting protein with calponin homology and LIM domains	NICAL	NA	11827972	Standard	NM_022765	NM_022765	NA	Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2178C>A	6.37:g.109768325G>T		NA	E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	37	CCDS5076.1																																																																																			MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041759.2		-	ENST00000358807.3	Silent	SNP	6 : 109768325 - 109768325 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	457	58
SUSD4	55061	broad.mit.edu	37	1	223441990	223441990	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223441990G>A	ENST00000343846.3	-	3	1022	c.389C>T	c.(388-390)gCt>gTt	p.A130V	SUSD4_ENST00000344029.6_Missense_Mutation_p.A130V|SUSD4_ENST00000366878.4_Missense_Mutation_p.A130V|SUSD4_ENST00000494793.2_Missense_Mutation_p.A130V|SUSD4_ENST00000484758.2_Missense_Mutation_p.A59V|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000454695.2_5'UTR			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	130	Sushi 2.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		ATGAATCTCAGCATCTTCGAT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													192	165	174			NA	NA	1		NA											NA				223441990		2203	4300	6503	SO:0001583	missense			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502	55061	55061			25470	protein-coding gene	gene with protein product		615827			NA	12477932	Standard	NM_017982	NM_017982	NA	Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.389C>T	1.37:g.223441990G>A	ENSP00000344219:p.Ala130Val	NA	D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	37	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966494	0.92855	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000542750;ENST00000271787;ENST00000344029	T;T;T	0.66995	-0.24;-0.24;-0.24	5.91	5.91	0.95273	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.47852	D	0.000205	T	0.76659	0.4018	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.91635	0.993;0.987;0.999	T	0.76260	-0.3024	10	0.54805	T	0.06	-17.2517	19.2811	0.94053	0.0:0.0:1.0:0.0	.	59;130;130	B7Z369;Q5VX71-3;Q5VX71	.;.;SUSD4_HUMAN	V	130;130;59;130;130	ENSP00000344219:A130V;ENSP00000355843:A130V;ENSP00000339926:A130V	ENSP00000271787:A130V	A	-	2	0	SUSD4	221508613	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.463000	0.80869	2.802000	0.96397	0.650000	0.86243	GCT	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092592.2		-	ENST00000343846.3	Missense_Mutation	SNP	1 : 223441990 - 223441990 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	559	126
PAQR4	124222	broad.mit.edu	37	16	3021795	3021795	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3021795G>A	ENST00000572687.1	+	2	563	c.446G>A	c.(445-447)cGt>cAt	p.R149H	PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000576565.1_Missense_Mutation_p.R156H|PAQR4_ENST00000318782.8_Missense_Mutation_p.R223H|PAQR4_ENST00000293978.8_Missense_Mutation_p.R184H|PAQR4_ENST00000574988.1_Missense_Mutation_p.R156H	NM_001284512.1	NP_001271441.1	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	223						integral to membrane	receptor activity	p.R223L(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						AATGTAGCCCGTCTGCCCGAG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)						G	HIS/ARG	0,4396		0,0,2198	47	50	49		668	4.8	1	16		49	1,8599	1.2+/-3.3	0,1,4299	no	missense	PAQR4	NM_152341.3	29	0,1,6497	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	223/274	3021795	1,12995	2198	4300	6498	SO:0001583	missense				CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073	124222	124222			26386	protein-coding gene	gene with protein product		614578			NA	12477932	Standard	NM_152341	XM_005255112	NA	Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000572687.1:c.446G>A	16.37:g.3021795G>A	ENSP00000459418:p.Arg149His	NA	A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	37		.	.	.	.	.	.	.	.	.	.	g	18.26	3.583961	0.65992	0.0	1.16E-4	ENSG00000162073	ENST00000318782;ENST00000293978	T	0.33865	1.39	4.81	4.81	0.61882	.	0.063428	0.64402	D	0.000004	T	0.56673	0.2001	M	0.62016	1.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74023	0.973;0.929;0.982	T	0.58864	-0.7561	10	0.54805	T	0.06	-29.6577	15.3988	0.74818	0.0:0.0:1.0:0.0	.	148;184;223	Q8N4S7-3;Q8N4S7-2;Q8N4S7	.;.;PAQR4_HUMAN	H	223;149	ENSP00000321804:R223H	ENSP00000293978:R149H	R	+	2	0	PAQR4	2961796	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	7.200000	0.77838	2.220000	0.72140	0.457000	0.33378	CGT	PAQR4-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000436739.1		+	ENST00000572687.1	Missense_Mutation	SNP	16 : 3021795 - 3021795 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	399	35
INTS5	80789	broad.mit.edu	37	11	62417038	62417038	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62417038C>T	ENST00000330574.2	-	2	566	c.514G>A	c.(514-516)Gct>Act	p.A172T		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	172					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						TCATTAAGAGCGCCAGTAGCG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	84	85			NA	NA	11		NA											NA				62417038		2202	4299	6501	SO:0001583	missense			AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085	80789	80789			29352	protein-coding gene	gene with protein product		611349	KIAA1698	KIAA1698	NA	16239144	Standard	NM_030628	NM_030628	NA	Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.514G>A	11.37:g.62417038C>T	ENSP00000327889:p.Ala172Thr	NA	Q8N6W5|Q9C0G5	37	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.355687	0.41700	.	.	ENSG00000185085	ENST00000330574	.	.	.	4.67	3.53	0.40419	.	0.190185	0.42294	D	0.000735	T	0.22044	0.0531	N	0.08118	0	0.30478	N	0.772596	B	0.09022	0.002	B	0.01281	0.0	T	0.11916	-1.0568	9	0.62326	D	0.03	.	8.3625	0.32367	0.7958:0.2042:0.0:0.0	.	172	Q6P9B9	INT5_HUMAN	T	172	.	ENSP00000327889:A172T	A	-	1	0	INTS5	62173614	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	2.979000	0.49313	0.826000	0.34661	-0.275000	0.10095	GCT	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395327.1		-	ENST00000330574.2	Missense_Mutation	SNP	11 : 62417038 - 62417038 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	286	52
ANO4	121601	broad.mit.edu	37	12	101436160	101436160	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101436160G>A	ENST00000392979.3	+	11	1324	c.963G>A	c.(961-963)tgG>tgA	p.W321*	ANO4_ENST00000392977.3_Nonsense_Mutation_p.W356*|ANO4_ENST00000299222.9_5'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	356						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GGTTGGGCTGGTACACCGGCA	0.483		NA								HNSCC(74;0.22)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	156	163			NA	NA	12		NA											NA				101436160		2203	4300	6503	SO:0001587	stop_gained			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572	121601	121601		Ion channels / Chloride channels : Calcium activated : Anoctamins	23837	protein-coding gene	gene with protein product		610111	transmembrane protein 16D	TMEM16D	NA	12739008, 15067359, 24692353	Standard	NM_178826	NM_178826	NA	Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392979.3:c.963G>A	12.37:g.101436160G>A	ENSP00000376705:p.Trp321*	NA	Q8NAJ0|Q8NB39|Q8NB53	37	CCDS31884.1	.	.	.	.	.	.	.	.	.	.	G	40	8.414798	0.98801	.	.	ENSG00000151572	ENST00000392979;ENST00000392977	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	321;356	.	ENSP00000376703:W356X	W	+	3	0	ANO4	99960291	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TGG	ANO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409294.2		+	ENST00000392979.3	Nonsense_Mutation	SNP	12 : 101436160 - 101436160 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	66
DHX16	8449	broad.mit.edu	37	6	30630467	30630467	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30630467C>T	ENST00000376442.3	-	9	1676	c.1481G>A	c.(1480-1482)cGc>cAc	p.R494H		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	494	Helicase ATP-binding.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						TGTCATGTAGCGGAGGACAGT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	80	87			NA	NA	6		NA											NA				30630467		1511	2709	4220	SO:0001583	missense			AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560	8449	8449		DEAH-boxes	2739	protein-coding gene	gene with protein product		603405	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16	DDX16	NA	9547260	Standard	NM_003587	NM_003587	NA	Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.1481G>A	6.37:g.30630467C>T	ENSP00000365625:p.Arg494His	NA	O60322|Q5JP45|Q969X7|Q96QC1	37	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663347	0.88251	.	.	ENSG00000204560	ENST00000376442	T	0.32515	1.45	5.39	5.39	0.77823	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.052497	0.64402	D	0.000001	T	0.29976	0.0750	L	0.48362	1.52	0.80722	D	1	D;D	0.69078	0.997;0.995	P;P	0.58266	0.836;0.803	T	0.09640	-1.0665	10	0.87932	D	0	.	8.0096	0.30344	0.0:0.8351:0.0:0.1648	.	434;494	B4DZ28;O60231	.;DHX16_HUMAN	H	494	ENSP00000365625:R494H	ENSP00000365625:R494H	R	-	2	0	DHX16	30738446	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.861000	0.62969	2.809000	0.96659	0.555000	0.69702	CGC	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076076.2		-	ENST00000376442.3	Missense_Mutation	SNP	6 : 30630467 - 30630467 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	304	65
TLK2	11011	broad.mit.edu	37	17	60642396	60642396	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60642396G>T	ENST00000582809.1	+	12	1122	c.419G>T	c.(418-420)aGc>aTc	p.S140I	TLK2_ENST00000326270.9_Missense_Mutation_p.S289I|TLK2_ENST00000346027.5_Missense_Mutation_p.S289I|TLK2_ENST00000542523.1_Missense_Mutation_p.S257I|TLK2_ENST00000343388.7_Missense_Mutation_p.S257I			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	289					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						AGAGATAAGAGCATGCAAGAC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	97	103			NA	NA	17		NA											NA				60642396		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.419G>T	17.37:g.60642396G>T	ENSP00000463595:p.Ser140Ile	NA	D3DU07|Q9UKI7|Q9Y4F7	37		.	.	.	.	.	.	.	.	.	.	G	15.71	2.913136	0.52439	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.66099	-0.14;-0.19;-0.15;-0.19	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.69886	0.3161	L	0.36672	1.1	0.80722	D	1	D;B;B;B	0.89917	1.0;0.02;0.094;0.409	D;B;B;B	0.87578	0.998;0.032;0.108;0.119	T	0.63659	-0.6587	10	0.18710	T	0.47	.	17.2555	0.87055	0.0:0.0:1.0:0.0	.	289;257;289;289	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	I	289;257;289;257	ENSP00000275780:S289I;ENSP00000340800:S257I;ENSP00000316512:S289I;ENSP00000442311:S257I	ENSP00000316512:S289I	S	+	2	0	TLK2	57996128	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.601000	0.98297	2.558000	0.86282	0.655000	0.94253	AGC	TLK2-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000445133.1		+	ENST00000582809.1	Missense_Mutation	SNP	17 : 60642396 - 60642396 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	328	59
TMEM64	169200	broad.mit.edu	37	8	91637980	91637980	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:91637980G>A	ENST00000458549.2	-	3	1239	c.1062C>T	c.(1060-1062)ggC>ggT	p.G354G	TMEM64_ENST00000418210.2_Silent_p.G302G|TMEM64_ENST00000519519.1_Silent_p.G93G	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64	354						integral to membrane				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			TTGGTTGATTGCCTTTAACCA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	103	107			NA	NA	8		NA											NA				91637980		2203	4300	6503	SO:0001819	synonymous_variant			AL834364	CCDS34920.2, CCDS55260.1	8q21.3	2005-08-09			ENSG00000180694	ENSG00000180694	169200	169200			25441	protein-coding gene	gene with protein product					NA		Standard	NM_001008495	NM_001008495	NA	Approved	DKFZp762C1112	uc003yen.2	Q6YI46	OTTHUMG00000157185	ENST00000458549.2:c.1062C>T	8.37:g.91637980G>A		NA	Q2HIZ7|Q8N3G6	37	CCDS34920.2																																																																																			TMEM64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347825.1		-	ENST00000458549.2	Silent	SNP	8 : 91637980 - 91637980 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	45
TTN	7273	broad.mit.edu	37	2	179458929	179458929	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179458929C>T	ENST00000589042.1	-	297	58415	c.58191G>A	c.(58189-58191)acG>acA	p.T19397T	TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.T16829T|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.T17756T|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.T10524T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Silent_p.T10457T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.T10332T|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17756	Fibronectin type-III 40.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAACTCGAATCGTGAGCTTAT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,,	0,3814		0,0,1907	72	67	69		30996,50487,31371,31572	-12.3	0	2		69	1,8249		0,1,4124	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,6031	TT,TC,CC	NA	0.0121,0.0,0.0083	,,,	10332/26927,16829/33424,10457/27052,10524/27119	179458929	1,12063	1907	4125	6032	SO:0001819	synonymous_variant			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.58191G>A	2.37:g.179458929C>T		NA	E7ET18	37	CCDS59435.1																																																																																			TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Silent	SNP	2 : 179458929 - 179458929 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	328	59
SKIV2L	6499	broad.mit.edu	37	6	31930327	31930327	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31930327G>T	ENST00000375394.2	+	11	1289	c.1176G>T	c.(1174-1176)gaG>gaT	p.E392D	SKIV2L_ENST00000544581.1_Missense_Mutation_p.E199D	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	392	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TGCATCCGGAGGCCTCCTGCC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	56	57			NA	NA	6		NA											NA				31930327		2203	4300	6503	SO:0001583	missense				CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351	6499	6499			10898	protein-coding gene	gene with protein product		600478	superkiller viralicidic activity 2 (S. cerevisiae homolog)-like	SKIV2	NA	7759100, 9799600	Standard		XM_006715168	NA	Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.1176G>T	6.37:g.31930327G>T	ENSP00000364543:p.Glu392Asp	NA	O15005|Q12902|Q15476|Q5ST66	37	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.958804	0.34565	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.71103	-0.54;-0.54	5.49	-0.429	0.12303	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.056470	0.64402	D	0.000001	T	0.19327	0.0464	N	0.05280	-0.08	0.40523	D	0.980855	B	0.13145	0.007	B	0.10450	0.005	T	0.03249	-1.1056	10	0.21014	T	0.42	-25.6916	2.1569	0.03814	0.409:0.1223:0.3444:0.1242	.	392	Q15477	SKIV2_HUMAN	D	392;234;199	ENSP00000364543:E392D;ENSP00000442645:E199D	ENSP00000364543:E392D	E	+	3	2	SKIV2L	32038306	0.883000	0.30277	0.870000	0.34147	0.700000	0.40528	-0.036000	0.12185	-0.014000	0.14175	-0.345000	0.07892	GAG	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076264.3		+	ENST00000375394.2	Missense_Mutation	SNP	6 : 31930327 - 31930327 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	279	55
TSHZ1	10194	broad.mit.edu	37	18	72998525	72998525	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72998525C>T	ENST00000322038.5	+	2	1612	c.1028C>T	c.(1027-1029)cCg>cTg	p.P343L	TSHZ1_ENST00000580243.1_Missense_Mutation_p.P388L	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	388						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GCAGCGAACCCGTACGTCACG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	109	108			NA	NA	18		NA											NA				72998525		2203	4300	6503	SO:0001583	missense			AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981	10194	10194		Teashirt zinc fingers, Homeoboxes / ZF class, Zinc fingers, C2H2-type	10669	protein-coding gene	gene with protein product		614427	serologically defined colon cancer antigen 33, teashirt zinc finger 1, teashirt family zinc finger 1	SDCCAG33	NA	17586487	Standard	NM_005786	NM_005786	NA	Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000322038.5:c.1028C>T	18.37:g.72998525C>T	ENSP00000323584:p.Pro343Leu	NA	O60534|Q4LE29|Q53EU4	37	CCDS12009.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.290455	0.23478	.	.	ENSG00000179981	ENST00000322038	T	0.11604	2.76	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.19886	0.0478	L	0.35593	1.075	0.42428	D	0.992664	D	0.89917	1.0	D	0.64506	0.926	T	0.13899	-1.0492	10	0.02654	T	1	-26.8549	18.8997	0.92437	0.0:1.0:0.0:0.0	.	388	Q6ZSZ6	TSH1_HUMAN	L	343	ENSP00000323584:P343L	ENSP00000323584:P343L	P	+	2	0	TSHZ1	71127513	1.000000	0.71417	0.903000	0.35520	0.304000	0.27724	7.343000	0.79319	-1.153000	0.02829	-1.134000	0.01955	CCG	TSHZ1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256333.2		+	ENST00000322038.5	Missense_Mutation	SNP	18 : 72998525 - 72998525 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	389	59
LSM4	25804	broad.mit.edu	37	19	18420644	18420644	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18420644C>T	ENST00000593829.1	-	4	425	c.172G>A	c.(172-174)Gag>Aag	p.E58K	LSM4_ENST00000252816.6_Missense_Mutation_p.E44K	NM_001252129.1|NM_012321.4	NP_001239058.1|NP_036453.1	Q9Y4Z0	LSM4_HUMAN	LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae)	58					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing	cytosol|U6 snRNP	protein binding|RNA binding	p.E58K(1)		endometrium(1)|large_intestine(2)|lung(3)	6						ATGTAGCACTCGGGCATCCGC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											51	42	45			NA	NA	19		NA											NA				18420644		2203	4300	6503	SO:0001583	missense			AF117235	CCDS12374.1, CCDS62601.1	19p13.1	2008-02-05				ENSG00000130520	25804	25804			17259	protein-coding gene	gene with protein product		607284			NA	10369684, 10523320	Standard		NM_012321	NA	Approved	YER112W	uc002niq.3	Q9Y4Z0		ENST00000593829.1:c.172G>A	19.37:g.18420644C>T	ENSP00000469468:p.Glu58Lys	NA		37	CCDS12374.1	.	.	.	.	.	.	.	.	.	.	c	32	5.117333	0.94385	.	.	ENSG00000130520	ENST00000252816	.	.	.	4.47	4.47	0.54385	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.72104	0.3419	M	0.82433	2.59	0.80722	D	1	P	0.47302	0.893	P	0.47376	0.545	T	0.79562	-0.1752	9	0.87932	D	0	9.9037	16.5142	0.84295	0.0:1.0:0.0:0.0	.	58	Q9Y4Z0	LSM4_HUMAN	K	58	.	ENSP00000252816:E58K	E	-	1	0	LSM4	18281644	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	5.353000	0.66034	2.211000	0.71520	0.457000	0.33378	GAG	LSM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466321.1		-	ENST00000593829.1	Missense_Mutation	SNP	19 : 18420644 - 18420644 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	220	33
ROS1	6098	broad.mit.edu	37	6	117718173	117718173	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117718173A>G	ENST00000368508.3	-	7	882	c.684T>C	c.(682-684)taT>taC	p.Y228Y	ROS1_ENST00000368507.3_Silent_p.Y237Y|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	228	Fibronectin type-III 2.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GCCTTAAGTTATAACCCAAAA	0.418		NA	T	GOPC, SDC4, SLC34A2, EZR, LRIG3	glioblastoma, NSCLC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		O, E	0													120	125	123			NA	NA	6		NA											NA				117718173		2203	4300	6503	SO:0001819	synonymous_variant			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936	6098	6098		Fibronectin type III domain containing	10261	protein-coding gene	gene with protein product		165020	v-ros avian UR2 sarcoma virus oncogene homolog 1, v-ros UR2 sarcoma virus oncogene homolog 1 (avian), c-ros oncogene 1 , receptor tyrosine kinase		NA	1611909	Standard		NM_002944	NA	Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.684T>C	6.37:g.117718173A>G		NA	Q15368|Q5TDB5	37	CCDS5116.1																																																																																			ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043464.1		-	ENST00000368508.3	Silent	SNP	6 : 117718173 - 117718173 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	731	135
RP11-287D1.3	0	broad.mit.edu	37	2	74588664	74588664	+	Missense_Mutation	SNP	C	C	T	rs146083590		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74588664C>T	ENST00000451608.2	-	5	537	c.538G>A	c.(538-540)Gag>Aag	p.E180K	DCTN1_ENST00000409567.3_Missense_Mutation_p.E1242K|DCTN1_ENST00000407639.2_Missense_Mutation_p.E1133K|DCTN1_ENST00000409438.1_Missense_Mutation_p.E1128K|DCTN1_ENST00000361874.3_Missense_Mutation_p.E1267K|DCTN1_ENST00000394003.3_Missense_Mutation_p.E1260K|DCTN1_ENST00000409240.1_Missense_Mutation_p.E1225K|DCTN1_ENST00000409868.1_Missense_Mutation_p.E1245K						NA											NA						TGCAGCTGCTCCTGGGTCAGC	0.612		NA											C	3	0.0014	NA	NA	2184	0.01	1	,	,	NA	3e-04	NA	NA	NA	0.0014	1	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0													111	85	94			NA	NA	2		NA											NA				74588664		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000451608.2:c.538G>A	2.37:g.74588664C>T	ENSP00000416453:p.Glu180Lys	NA		37		3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	14.61	2.585508	0.46110	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	5.64	5.64	0.86602	.	0.000000	0.42294	D	0.000739	T	0.53433	0.1796	N	0.08118	0	0.35153	D	0.769999	B;B;B;B;B;B;P	0.35383	0.008;0.146;0.063;0.008;0.014;0.103;0.498	B;B;B;B;B;B;B	0.33454	0.004;0.038;0.017;0.004;0.004;0.039;0.164	T	0.66440	-0.5923	10	0.28530	T	0.3	-13.4458	18.4677	0.90761	0.0:1.0:0.0:0.0	.	1242;1225;1267;1260;1133;1128;1250	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4;A8MWX9	.;.;DCTN1_HUMAN;.;.;.;.	K	1267;1260;1250;1133;1128;1225;1245;1242	ENSP00000354791:E1267K;ENSP00000377571:E1260K;ENSP00000384844:E1133K;ENSP00000387270:E1128K;ENSP00000386406:E1225K;ENSP00000387327:E1245K;ENSP00000386843:E1242K	ENSP00000354791:E1267K	E	-	1	0	DCTN1	74442172	0.989000	0.36119	1.000000	0.80357	0.994000	0.84299	1.154000	0.31688	2.659000	0.90383	0.591000	0.81541	GAG	RP11-287D1.3-002	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000445907.1		-	ENST00000451608.2	Missense_Mutation	SNP	2 : 74588664 - 74588664 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	250	10
TWF1	5756	broad.mit.edu	37	12	44191256	44191256	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:44191256C>T	ENST00000395510.2	-	7	739		c.e7-1		TWF1_ENST00000325127.4_Splice_Site|TWF1_ENST00000552521.1_Splice_Site|TWF1_ENST00000548315.1_Splice_Site	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1	NA						actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		TATCTATTTCCTGCCAATAAG	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	30	29			NA	NA	12		NA											NA				44191256		2200	4294	6494	SO:0001630	splice_region_variant			U02680	CCDS31780.1, CCDS31780.2, CCDS55818.1	12q12	2013-04-25	2013-04-25	2006-11-13			5756	5756			9620	protein-coding gene	gene with protein product		610932	protein tyrosine kinase 9, PTK9 protein tyrosine kinase 9, twinfilin, actin-binding protein, homolog 1 (Drosophila)	PTK9	NA	7507208	Standard	NM_002822	NM_002822	NA	Approved	A6	uc001rob.3	Q12792		ENST00000395510.2:c.610-1G>A	12.37:g.44191256C>T		NA	A8K5A8|B3KXS6|B4DLX9|Q59G07|Q5U0B1|Q6FHJ1|Q6FHL6|Q6NUK9|Q86XL6|Q8TCD3	37	CCDS31780.2	.	.	.	.	.	.	.	.	.	.	C	16.02	3.005480	0.54254	.	.	ENSG00000151239	ENST00000552521;ENST00000395510;ENST00000325127;ENST00000548315;ENST00000546662	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7243	0.91708	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TWF1	42477523	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	3.475000	0.53136	2.435000	0.82474	0.591000	0.81541	.	TWF1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403956.1	Intron	-	ENST00000395510.2	Splice_Site	SNP	12 : 44191256 - 44191256 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	146	20
SLC30A8	169026	broad.mit.edu	37	8	118175760	118175760	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:118175760C>T	ENST00000456015.2	+	6	820	c.820C>T	c.(820-822)Ctc>Ttc	p.L274F	SLC30A8_ENST00000519688.1_Missense_Mutation_p.L225F|SLC30A8_ENST00000427715.2_Missense_Mutation_p.L225F|SLC30A8_ENST00000521243.1_Missense_Mutation_p.L225F	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	274					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CTCCATCTTACTCATGGAAGG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(162;1202 1922 6011 16223 52092)							NA				0													122	118	119			NA	NA	8		NA											NA				118175760		2203	4300	6503	SO:0001583	missense				CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756		169026	169026		Solute carriers	20303	protein-coding gene	gene with protein product		611145			NA		Standard	NM_173851	NM_001172811	NA	Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.820C>T	8.37:g.118175760C>T	ENSP00000415011:p.Leu274Phe	NA	A0AVP9|A5YM39|B4DPE0|Q8TCL3	37	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016112	0.75161	.	.	ENSG00000164756	ENST00000521243;ENST00000427715;ENST00000519688;ENST00000456015	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	4.95	4.06	0.47325	.	0.000000	0.64402	D	0.000001	D	0.92378	0.7581	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93116	0.6521	10	0.87932	D	0	-15.5648	11.6831	0.51470	0.0:0.9106:0.0:0.0894	.	274	Q8IWU4	ZNT8_HUMAN	F	225;225;225;274	ENSP00000428545:L225F;ENSP00000407505:L225F;ENSP00000431069:L225F;ENSP00000415011:L274F	ENSP00000407505:L225F	L	+	1	0	SLC30A8	118244941	0.998000	0.40836	1.000000	0.80357	0.977000	0.68977	2.015000	0.40961	1.388000	0.46506	0.655000	0.94253	CTC	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381205.1		+	ENST00000456015.2	Missense_Mutation	SNP	8 : 118175760 - 118175760 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	363	72
BMP1	649	broad.mit.edu	37	8	22069241	22069241	+	Nonstop_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22069241A>G	ENST00000306385.5	+	20	3631	c.2961A>G	c.(2959-2961)tgA>tgG	p.*987W	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	0					cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GCAGGAAGTGACCACTGCCTG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	80	86			NA	NA	8		NA											NA				22069241		2203	4300	6503	SO:0001578	stop_lost				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	649	649	3.4.24.19	Bone morphogenetic proteins	1067	protein-coding gene	gene with protein product	procollagen C-endopeptidase	112264	procollagen C-endopeptidase	PCOLC	NA	2004778	Standard	NM_006132	NM_006129	NA	Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2961A>G	8.37:g.22069241A>G	ENSP00000305714:p.*987Trpext*45	NA	A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	37	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	A	17.77	3.471565	0.63737	.	.	ENSG00000168487	ENST00000306385	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0626	0.59015	1.0:0.0:0.0:0.0	.	.	.	.	W	987	.	.	X	+	3	0	BMP1	22125186	1.000000	0.71417	0.996000	0.52242	0.673000	0.39480	8.924000	0.92827	1.924000	0.55735	0.533000	0.62120	TGA	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214995.2		+	ENST00000306385.5	Nonstop_Mutation	SNP	8 : 22069241 - 22069241 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	479	88
ZNF160	90338	broad.mit.edu	37	19	53572121	53572121	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53572121G>A	ENST00000601421.1	-	3	2434	c.1558C>T	c.(1558-1560)Cgg>Tgg	p.R520W	ZNF160_ENST00000418871.1_Missense_Mutation_p.R556W|ZNF160_ENST00000429604.1_Missense_Mutation_p.R556W|ZNF160_ENST00000599056.1_Missense_Mutation_p.R556W			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	556					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TGAATTCCCCGATGACTTCTA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	86	86			NA	NA	19		NA											NA				53572121		2203	4300	6503	SO:0001583	missense			X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949	90338	90338		Zinc fingers, C2H2-type, -	12948	protein-coding gene	gene with protein product		600398			NA	7774943, 7865130	Standard	NM_033288	NM_198893	NA	Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000601421.1:c.1558C>T	19.37:g.53572121G>A	ENSP00000470573:p.Arg520Trp	NA	Q14589|Q504Q8|Q96JC5|Q9H7N6	37		.	.	.	.	.	.	.	.	.	.	G	12.97	2.098400	0.37048	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	T;T	0.07688	3.17;3.17	2.22	2.22	0.28083	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10165	0.0249	L	0.61036	1.89	0.33412	D	0.578734	P	0.35307	0.494	B	0.30401	0.115	T	0.17653	-1.0362	9	0.87932	D	0	.	11.4708	0.50268	0.0:0.0:1.0:0.0	.	556	Q9HCG1	ZN160_HUMAN	W	556	ENSP00000406201:R556W;ENSP00000409597:R556W	ENSP00000409597:R556W	R	-	1	2	ZNF160	58263933	0.000000	0.05858	0.031000	0.17742	0.021000	0.10359	-1.606000	0.02072	1.221000	0.43506	0.561000	0.74099	CGG	ZNF160-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000464024.1		-	ENST00000601421.1	Missense_Mutation	SNP	19 : 53572121 - 53572121 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	577	105
NPC1L1	29881	broad.mit.edu	37	7	44578520	44578520	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44578520C>A	ENST00000423141.1	-	2	1531	c.1476G>T	c.(1474-1476)caG>caT	p.Q492H	NPC1L1_ENST00000289547.4_Missense_Mutation_p.Q492H|NPC1L1_ENST00000546276.1_Missense_Mutation_p.Q492H|NPC1L1_ENST00000381160.3_Missense_Mutation_p.Q492H			Q9UHC9	NPCL1_HUMAN	NPC1-like 1	492					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TCTGGAAATACTGCAGGAGGC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	123	130			NA	NA	7		NA											NA				44578520		2203	4300	6503	SO:0001583	missense				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520	29881	29881			7898	protein-coding gene	gene with protein product		608010	NPC1 (Niemann-Pick disease, type C1, gene)-like 1		NA	10783261	Standard	NM_013389	NM_013389	NA	Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000423141.1:c.1476G>T	7.37:g.44578520C>A	ENSP00000404670:p.Gln492His	NA	A4D2J7|Q6R3Q4|Q9UHC8	37		.	.	.	.	.	.	.	.	.	.	c	16.63	3.177743	0.57692	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	5.07	3.26	0.37387	.	0.133289	0.51477	D	0.000084	D	0.92264	0.7546	M	0.84585	2.705	0.41428	D	0.987841	B;D;B;B	0.69078	0.035;0.997;0.008;0.009	B;P;B;B	0.58873	0.047;0.847;0.031;0.007	D	0.90153	0.4222	10	0.46703	T	0.11	-12.2679	7.0715	0.25181	0.0:0.7223:0.0:0.2777	.	492;492;492;492	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	H	492	ENSP00000289547:Q492H;ENSP00000370552:Q492H;ENSP00000438033:Q492H;ENSP00000404670:Q492H	ENSP00000289547:Q492H	Q	-	3	2	NPC1L1	44545045	1.000000	0.71417	0.997000	0.53966	0.902000	0.53008	2.869000	0.48444	0.537000	0.28751	0.407000	0.27541	CAG	NPC1L1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000339389.1		-	ENST00000423141.1	Missense_Mutation	SNP	7 : 44578520 - 44578520 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	409	90
MORN3	283385	broad.mit.edu	37	12	122107269	122107269	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122107269C>T	ENST00000355329.3	-	1	291	c.121G>A	c.(121-123)Gag>Aag	p.E41K		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	41										breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		TCCTTCCACTCGCCCACATAG	0.627		NA									OREG0022205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	LOWCOV,EXOME	NA	NA	0.0011	SNP								NA				0													123	97	106			NA	NA	12		NA											NA				122107269		2203	4300	6503	SO:0001583	missense			BC057760	CCDS31917.1	12q24.31	2006-01-17			ENSG00000139714	ENSG00000139714	283385	283385			29807	protein-coding gene	gene with protein product					NA		Standard	NM_173855	NM_173855	NA	Approved		uc001uax.3	Q6PF18	OTTHUMG00000169075	ENST00000355329.3:c.121G>A	12.37:g.122107269C>T	ENSP00000347486:p.Glu41Lys	1516	Q86YQ9	37	CCDS31917.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	21.2	4.114304	0.77210	.	.	ENSG00000139714	ENST00000355329	T	0.62364	0.03	5.11	3.25	0.37280	.	0.052848	0.64402	D	0.000001	T	0.75421	0.3847	M	0.76938	2.355	0.43271	D	0.995226	D	0.89917	1.0	D	0.87578	0.998	T	0.74417	-0.3672	10	0.62326	D	0.03	.	7.7258	0.28759	0.0:0.747:0.1628:0.0902	.	41	Q6PF18	MORN3_HUMAN	K	41	ENSP00000347486:E41K	ENSP00000347486:E41K	E	-	1	0	MORN3	120591652	0.970000	0.33590	1.000000	0.80357	0.799000	0.45148	2.323000	0.43823	0.639000	0.30564	0.462000	0.41574	GAG	MORN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402154.1		-	ENST00000355329.3	Missense_Mutation	SNP	12 : 122107269 - 122107269 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	670	125
RPUSD2	27079	broad.mit.edu	37	15	40863937	40863937	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40863937C>T	ENST00000559271.1	+	2	564	c.558C>T	c.(556-558)ggC>ggT	p.G186G	RPUSD2_ENST00000315616.7_Silent_p.G247G			Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	247					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		ACCCCTGTGGCCGCTTCCGAC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													200	143	163			NA	NA	15		NA											NA				40863937		2203	4300	6503	SO:0001819	synonymous_variant			AK055971	CCDS10061.1, CCDS66737.1	15q13.3	2013-02-11	2005-01-31	2005-02-07	ENSG00000166133	ENSG00000166133	27079	27079		RNA pseudouridylate synthase domain containing	24180	protein-coding gene	gene with protein product			chromosome 15 open reading frame 19	C15orf19	NA	12477932	Standard	NM_152260	NM_001286407	NA	Approved	C18B11, FLJ31409	uc001zmd.1	Q8IZ73	OTTHUMG00000130031	ENST00000559271.1:c.558C>T	15.37:g.40863937C>T		NA	Q7L989|Q92939|Q96IA7|Q96N50	37																																																																																				RPUSD2-004	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000418791.2		+	ENST00000559271.1	Silent	SNP	15 : 40863937 - 40863937 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	603	20
DIXDC1	85458	broad.mit.edu	37	11	111866132	111866132	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111866132C>T	ENST00000389821.4	+	0	1829				DIXDC1_ENST00000440460.2_Silent_p.S510S|DIXDC1_ENST00000315253.5_Silent_p.S299S			Q155Q3	DIXC1_HUMAN	DIX domain containing 1	NA					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		CACAGACCAGCGACCTGCAGC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	60	59			NA	NA	11		NA											NA				111866132		2112	4221	6333	SO:0001624	3_prime_UTR_variant			AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764	85458	85458			23695	protein-coding gene	gene with protein product		610493			NA	12792787	Standard	NM_001037954	NM_001037954	NA	Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000389821.4:c.*1826C>T	11.37:g.111866132C>T		NA	A1A5D8|Q6P2J8|Q6PIK4|Q8IVY4|Q96N69|Q9C0C8	37																																																																																				DIXDC1-001	KNOWN	basic	processed_transcript	NA	protein_coding	OTTHUMT00000391833.1		+	ENST00000389821.4	3'UTR	SNP	11 : 111866132 - 111866132 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	249	50
NPAP1	23742	broad.mit.edu	37	15	24923233	24923233	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:24923233C>A	ENST00000329468.2	+	1	2693	c.2219C>A	c.(2218-2220)gCc>gAc	p.A740D		NM_018958.2	NP_061831.2			nuclear pore associated protein 1	NA											NA						GGCAACACTGCCTCAGTCCAA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	110	109			NA	NA	15		NA											NA				24923233		2203	4300	6503	SO:0001583	missense			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823	23742	23742			1190	protein-coding gene	gene with protein product		610922	chromosome 15 open reading frame 2	C15orf2	NA	10783265, 22694955	Standard	NM_018958	NM_018958	NA	Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2219C>A	15.37:g.24923233C>A	ENSP00000333735:p.Ala740Asp	NA		37	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	12.37	1.916930	0.33815	.	.	ENSG00000185823	ENST00000329468	T	0.07114	3.22	2.31	0.331	0.15933	.	0.631794	0.13178	N	0.407709	T	0.11665	0.0284	L	0.42245	1.32	0.09310	N	1	D	0.65815	0.995	P	0.55011	0.766	T	0.17899	-1.0354	10	0.44086	T	0.13	.	4.4867	0.11794	0.0:0.6493:0.0:0.3507	.	740	Q9NZP6	CO002_HUMAN	D	740	ENSP00000333735:A740D	ENSP00000333735:A740D	A	+	2	0	C15orf2	22474326	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	-0.426000	0.07008	0.089000	0.17243	0.195000	0.17529	GCC	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251253.1		+	ENST00000329468.2	Missense_Mutation	SNP	15 : 24923233 - 24923233 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	972	172
KCNQ2	3785	broad.mit.edu	37	20	62070995	62070995	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62070995C>T	ENST00000359125.2	-	6	1057	c.883G>A	c.(883-885)Gca>Aca	p.A295T	KCNQ2_ENST00000344462.4_Missense_Mutation_p.A295T|KCNQ2_ENST00000344425.5_Missense_Mutation_p.A295T|KCNQ2_ENST00000370224.1_Missense_Mutation_p.A295T|KCNQ2_ENST00000357249.2_Missense_Mutation_p.A295T|KCNQ2_ENST00000359689.1_Missense_Mutation_p.A295T|KCNQ2_ENST00000360480.3_Missense_Mutation_p.A295T|KCNQ2_ENST00000354587.3_Missense_Mutation_p.A295T	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	295					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GTGAAGGTTGCCGCAAGGAGC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													214	158	177			NA	NA	20		NA											NA				62070995		2203	4300	6503	SO:0001583	missense			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043	3785	3785		Potassium channels, Voltage-gated ion channels / Potassium channels	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1	NA	9425895, 16382104	Standard	NM_172109	NM_172107	NA	Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.883G>A	20.37:g.62070995C>T	ENSP00000352035:p.Ala295Thr	NA	O43796|O75580|O95845|Q4VXP4|Q5VYT8|Q96J59|Q99454	37	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684165	0.68157	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222;ENST00000370221;ENST00000344425	D;D;D;D;D;D;D;D;D;D;D;D	0.98329	-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87	4.01	4.01	0.46588	Ion transport (1);	0.141721	0.46145	D	0.000303	D	0.98286	0.9432	L	0.45744	1.44	0.80722	D	1	D;P;D;D;D;D	0.89917	1.0;0.947;0.999;0.997;0.997;0.998	D;P;D;D;D;D	0.79108	0.992;0.837;0.928;0.928;0.946;0.957	D	0.99853	1.1074	10	0.87932	D	0	-20.9394	16.4798	0.84155	0.0:1.0:0.0:0.0	.	295;295;295;295;295;295	B4DEP4;Q53Y30;O43526-3;O43526-2;O43526-4;O43526	.;.;.;.;.;KCNQ2_HUMAN	T	295	ENSP00000349789:A295T;ENSP00000352035:A295T;ENSP00000359246:A295T;ENSP00000346601:A295T;ENSP00000352718:A295T;ENSP00000399612:A295T;ENSP00000353668:A295T;ENSP00000339611:A295T;ENSP00000359244:A295T;ENSP00000359242:A295T;ENSP00000359241:A295T;ENSP00000345523:A295T	ENSP00000345523:A295T	A	-	1	0	KCNQ2	61541439	1.000000	0.71417	0.090000	0.20809	0.101000	0.19017	7.574000	0.82434	1.908000	0.55244	0.561000	0.74099	GCA	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080353.1		-	ENST00000359125.2	Missense_Mutation	SNP	20 : 62070995 - 62070995 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	614	102
HIRIP3	8479	broad.mit.edu	37	16	30004620	30004620	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30004620T>C	ENST00000279392.3	-	7	2409	c.1579A>G	c.(1579-1581)Acc>Gcc	p.T527A	HIRIP3_ENST00000564026.1_3'UTR	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	527					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						GAGTCCAGGGTCCGTCGGTAC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	63	62			NA	NA	16		NA											NA				30004620		2197	4300	6497	SO:0001583	missense			AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929	8479	8479			4917	protein-coding gene	gene with protein product		603365	HIRA-interacting protein 3		NA	9710638	Standard	NM_003609	NM_003609	NA	Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118	ENST00000279392.3:c.1579A>G	16.37:g.30004620T>C	ENSP00000279392:p.Thr527Ala	NA	O75707|O75708	37	CCDS10664.1	.	.	.	.	.	.	.	.	.	.	T	1.242	-0.621104	0.03636	.	.	ENSG00000149929	ENST00000279392;ENST00000352552	T	0.28666	1.6	5.02	1.46	0.22682	.	0.562321	0.17672	N	0.165940	T	0.13713	0.0332	N	0.12182	0.205	0.19945	N	0.999941	B	0.14012	0.009	B	0.12156	0.007	T	0.19976	-1.0289	10	0.29301	T	0.29	-4.3486	4.1826	0.10383	0.0:0.266:0.1701:0.5639	.	527	Q9BW71	HIRP3_HUMAN	A	527;214	ENSP00000279392:T527A	ENSP00000279392:T527A	T	-	1	0	HIRIP3	29912121	0.985000	0.35326	0.137000	0.22149	0.015000	0.08874	0.925000	0.28791	0.058000	0.16222	-0.256000	0.11100	ACC	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255160.2		-	ENST00000279392.3	Missense_Mutation	SNP	16 : 30004620 - 30004620 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	365	77
MYLK	4638	broad.mit.edu	37	3	123339123	123339123	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123339123G>T	ENST00000578202.1	-	1	238	c.19C>A	c.(19-21)Ctc>Atc	p.L7I	MYLK_ENST00000360304.3_Missense_Mutation_p.L1767I|MYLK_ENST00000360772.3_Missense_Mutation_p.L1716I|MYLK_ENST00000354792.5_Missense_Mutation_p.L567I|MYLK_ENST00000583087.1_Missense_Mutation_p.L7I|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000475616.1_Missense_Mutation_p.L1767I|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000418370.2_Missense_Mutation_p.L7I|MYLK_ENST00000346322.5_Missense_Mutation_p.L1698I|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000359169.1_Missense_Mutation_p.L1716I	NM_053031.2	NP_444259.1	Q15746	MYLK_HUMAN	myosin light chain kinase	1767					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTGCCACTGAGCCCTGAGATC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													221	215	217			NA	NA	3		NA											NA				123339123		2203	4300	6503	SO:0001583	missense			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	4638	4638	2.7.11.18	Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	7590	protein-coding gene	gene with protein product	smooth muscle myosin light chain kinase	600922	myosin, light polypeptide kinase		NA	8575746	Standard	NM_053025	NM_053026	NA	Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000578202.1:c.19C>A	3.37:g.123339123G>T	ENSP00000463691:p.Leu7Ile	NA	O95796|O95797|O95798|O95799|Q14844|Q16794|Q5MY99|Q5MYA0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UIT9	37	CCDS58849.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629067	0.46944	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000418370;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T;T;T;T	0.67345	-0.19;-0.26;-0.19;0.16;-0.25;-0.02;-0.26	5.24	5.24	0.73138	Protein kinase-like domain (1);	.	.	.	.	T	0.50429	0.1615	N	0.12182	0.205	0.33631	D	0.60607	B;P;B;P;B;B	0.43578	0.295;0.811;0.259;0.68;0.195;0.012	B;B;B;B;B;B	0.40534	0.132;0.332;0.099;0.21;0.062;0.002	T	0.62348	-0.6873	9	0.36615	T	0.2	.	14.8475	0.70270	0.0:0.0:0.8475:0.1524	.	1767;1647;1716;1698;1767;80	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746;Q05D81	.;.;.;.;MYLK_HUMAN;.	I	1716;1767;1716;7;1698;567;1767	ENSP00000354004:L1716I;ENSP00000353452:L1767I;ENSP00000352088:L1716I;ENSP00000428967:L7I;ENSP00000320622:L1698I;ENSP00000346846:L567I;ENSP00000418335:L1767I	ENSP00000320622:L1698I	L	-	1	0	MYLK	124821813	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.449000	0.52950	2.720000	0.93068	0.557000	0.71058	CTC	MYLK-019	NOVEL	NAGNAG_splice_site|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444083.1		-	ENST00000578202.1	Missense_Mutation	SNP	3 : 123339123 - 123339123 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1281	225
KIAA1549L	25758	broad.mit.edu	37	11	33612912	33612912	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33612912G>A	ENST00000321505.4	+	11	3985	c.3805G>A	c.(3805-3807)Gtc>Atc	p.V1269I	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.V1275I|KIAA1549L_ENST00000265654.5_Intron					KIAA1549-like	NA											NA						GGAAAGAGACGTCGCTCAGGA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	76	75			NA	NA	11		NA											NA				33612912		2020	4171	6191	SO:0001583	missense			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427	25758	25758			24836	protein-coding gene	gene with protein product		612297	chromosome 11 open reading frame 69, chromosome 11 open reading frame 41	C11orf69, C11orf41	NA		Standard	NM_012194	NM_012194	NA	Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.3805G>A	11.37:g.33612912G>A	ENSP00000315295:p.Val1269Ile	NA		37	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	G	9.346	1.064327	0.20067	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000536568	.	.	.	5.6	-7.58	0.01313	.	1.331440	0.04385	N	0.361474	T	0.24314	0.0589	N	0.15975	0.35	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.21211	-1.0252	9	0.30854	T	0.27	-0.0386	12.2063	0.54355	0.7122:0.085:0.2028:0.0	.	1275	E9PAT2	.	I	1269;1275;1108	.	ENSP00000315295:V1269I	V	+	1	0	C11orf41	33569488	0.000000	0.05858	0.000000	0.03702	0.755000	0.42902	0.341000	0.19909	-1.089000	0.03073	-0.367000	0.07326	GTC	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317998.1		+	ENST00000321505.4	Missense_Mutation	SNP	11 : 33612912 - 33612912 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	34
TXNDC11	51061	broad.mit.edu	37	16	11785193	11785193	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11785193G>T	ENST00000356957.3	-	9	2041	c.1934C>A	c.(1933-1935)tCt>tAt	p.S645Y	TXNDC11_ENST00000283033.5_Missense_Mutation_p.S618Y			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	645					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		p.S618C(1)		endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GATGTAATGAGATTCTTCTTT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											124	121	122			NA	NA	16		NA											NA				11785193		2197	4300	6497	SO:0001583	missense			BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066	51061	51061			28030	protein-coding gene	gene with protein product	EF-hand binding protein 1				NA	8619474, 9110174	Standard	NM_015914	XM_005255346	NA	Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.1934C>A	16.37:g.11785193G>T	ENSP00000349439:p.Ser645Tyr	NA	O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	37		.	.	.	.	.	.	.	.	.	.	G	19.31	3.803146	0.70682	.	.	ENSG00000153066	ENST00000356957;ENST00000283033	T;T	0.25749	1.78;1.78	5.81	5.81	0.92471	.	0.325259	0.31495	N	0.007559	T	0.38054	0.1026	L	0.50333	1.59	0.37626	D	0.921503	D;D	0.67145	0.978;0.996	P;P	0.60682	0.805;0.878	T	0.35674	-0.9779	10	0.59425	D	0.04	-1.5691	8.5305	0.33331	0.1623:0.0:0.8377:0.0	.	645;618	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	Y	645;618	ENSP00000349439:S645Y;ENSP00000283033:S618Y	ENSP00000283033:S618Y	S	-	2	0	TXNDC11	11692694	0.998000	0.40836	1.000000	0.80357	0.981000	0.71138	4.222000	0.58580	2.746000	0.94184	0.655000	0.94253	TCT	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000437057.1		-	ENST00000356957.3	Missense_Mutation	SNP	16 : 11785193 - 11785193 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	439	15
OR51I2	390064	broad.mit.edu	37	11	5475109	5475109	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5475109C>T	ENST00000341449.2	+	1	472	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGACCCCTTGCGCTATGCAAC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	141	145			NA	NA	11		NA											NA				5475109		2201	4297	6498	SO:0001583	missense			BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918	390064	390064		GPCR / Class A : Olfactory receptors	15201	protein-coding gene	gene with protein product					NA		Standard	NM_001004754	NM_001004754	NA	Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.391C>T	11.37:g.5475109C>T	ENSP00000341987:p.Arg131Cys	NA	Q6IF81	37	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.621233	0.46736	.	.	ENSG00000187918	ENST00000341449	T	0.43294	0.95	5.58	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.633514	0.15660	N	0.250972	T	0.47488	0.1448	M	0.88377	2.95	0.30139	N	0.804088	D	0.54397	0.966	B	0.41271	0.352	T	0.61158	-0.7119	10	0.87932	D	0	.	8.0418	0.30526	0.2645:0.6605:0.0:0.0749	.	131	Q9H344	O51I2_HUMAN	C	131	ENSP00000341987:R131C	ENSP00000341987:R131C	R	+	1	0	OR51I2	5431685	0.015000	0.18098	0.666000	0.29783	0.725000	0.41563	0.265000	0.18515	1.596000	0.50062	0.655000	0.94253	CGC	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000143385.1		+	ENST00000341449.2	Missense_Mutation	SNP	11 : 5475109 - 5475109 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	539	112
LRP1B	53353	broad.mit.edu	37	2	141032124	141032124	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141032124A>C	ENST00000389484.3	-	85	13982	c.13011T>G	c.(13009-13011)atT>atG	p.I4337M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4337	EGF-like 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATCATCCCCAATGGTACATG	0.413		NA								TSP Lung(27;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(99;50 2074 2507 20106)							NA				0													143	114	124			NA	NA	2		NA											NA				141032124		2203	4300	6503	SO:0001583	missense			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702	53353	53353		Low density lipoprotein receptors	6693	protein-coding gene	gene with protein product	LRP-deleted in tumors	608766			NA	10766186	Standard	NM_018557	NM_018557	NA	Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13011T>G	2.37:g.141032124A>C	ENSP00000374135:p.Ile4337Met	NA	Q8WY29|Q8WY30|Q8WY31	37	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.269|6.269	0.417832|0.417832	0.11870|0.11870	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977;ENST00000442974	D|.	0.90133|.	-2.62|.	5.36|5.36	-2.75|-2.75	0.05914|0.05914	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.189986|.	0.35320|.	U|.	0.003299|.	T|T	0.14960|0.14960	0.0361|0.0361	N|N	0.11427|0.11427	0.14|0.14	0.27396|0.27396	N|N	0.954992|0.954992	P|.	0.40476|.	0.718|.	B|.	0.33690|.	0.168|.	T|T	0.29822|0.29822	-0.9999|-0.9999	10|5	0.42905|.	T|.	0.14|.	.|.	3.9768|3.9768	0.09478|0.09478	0.492:0.0:0.2697:0.2383|0.492:0.0:0.2697:0.2383	.|.	4337|.	Q9NZR2|.	LRP1B_HUMAN|.	M|W	4337;4275|569;69	ENSP00000374135:I4337M|.	ENSP00000374135:I4337M|.	I|L	-|-	3|2	3|0	LRP1B|LRP1B	140748594|140748594	0.927000|0.927000	0.31430|0.31430	0.982000|0.982000	0.44146|0.44146	0.986000|0.986000	0.74619|0.74619	0.135000|0.135000	0.15952|0.15952	-0.221000|-0.221000	0.09973|0.09973	-0.333000|-0.333000	0.08304|0.08304	ATT|TTG	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254736.2		-	ENST00000389484.3	Missense_Mutation	SNP	2 : 141032124 - 141032124 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	401	29
FASN	2194	broad.mit.edu	37	17	80047259	80047259	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80047259G>A	ENST00000306749.2	-	13	2185	c.1967C>T	c.(1966-1968)gCc>gTc	p.A656V		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	656	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	AAACACCGGGGCCTGGACATC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(59;314 1043 11189 28578 32273)							NA				0													47	49	48			NA	NA	17		NA											NA				80047259		2202	4298	6500	SO:0001630	splice_region_variant			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2194	2194	2.3.1.85	Short chain dehydrogenase/reductase superfamily / Atypical members	3594	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 27X, member 1	600212			NA	7835891, 7567999, 19027726	Standard	NM_004104	NM_004104	NA	Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.1966-1C>T	17.37:g.80047259G>A		NA	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	37	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442750	0.43326	.	.	ENSG00000169710	ENST00000306749	T	0.46063	0.88	3.61	2.62	0.31277	Acyl transferase/acyl hydrolase/lysophospholipase (1);Malonyl-CoA ACP transacylase, ACP-binding (1);Acyl transferase (1);	0.134441	0.48286	D	0.000182	T	0.40956	0.1138	M	0.71206	2.165	0.33081	D	0.536584	P	0.49559	0.925	P	0.45037	0.467	T	0.53422	-0.8441	10	0.31617	T	0.26	-17.289	7.0309	0.24967	0.0:0.1538:0.5935:0.2526	.	656	P49327	FAS_HUMAN	V	656	ENSP00000304592:A656V	ENSP00000304592:A656V	A	-	2	0	FASN	77640548	0.874000	0.30092	0.302000	0.25058	0.007000	0.05969	1.180000	0.32005	0.812000	0.34326	-0.467000	0.05162	GCC	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442369.1	Missense_Mutation	-	ENST00000306749.2	Splice_Site	SNP	17 : 80047259 - 80047259 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	84
FAF2	23197	broad.mit.edu	37	5	175921013	175921013	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175921013C>A	ENST00000261942.6	+	6	550	c.497C>A	c.(496-498)gCc>gAc	p.A166D		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	166					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						CTTAACGATGCCAAAAGGGAG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	138	141			NA	NA	5		NA											NA				175921013		2203	4300	6503	SO:0001583	missense			BC015791	CCDS34296.1	5q35.2	2011-06-28	2008-07-25	2008-07-25	ENSG00000113194	ENSG00000113194	23197	23197		UBX domain containing	24666	protein-coding gene	gene with protein product	expressed in T cells and eosinophils in atopic dermatitis, UBX domain protein 3B		UBX domain containing 8	UBXD8	NA	10048485, 12372427	Standard	NM_014613	NM_014613	NA	Approved	ETEA, KIAA0887, UBXN3B	uc003mej.4	Q96CS3	OTTHUMG00000163228	ENST00000261942.6:c.497C>A	5.37:g.175921013C>A	ENSP00000261942:p.Ala166Asp	NA	O94963|Q8IUF2|Q9BRP2|Q9BVM7	37	CCDS34296.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.043875	0.93685	.	.	ENSG00000113194	ENST00000261942;ENST00000540174	T	0.71934	-0.61	5.5	5.5	0.81552	UAS (1);	0.000000	0.85682	D	0.000000	D	0.87442	0.6178	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89066	0.3466	10	0.87932	D	0	-13.0592	19.7671	0.96349	0.0:1.0:0.0:0.0	.	166	Q96CS3	FAF2_HUMAN	D	166	ENSP00000261942:A166D	ENSP00000261942:A166D	A	+	2	0	FAF2	175853619	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.414000	0.80117	2.751000	0.94390	0.650000	0.86243	GCC	FAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372194.1		+	ENST00000261942.6	Missense_Mutation	SNP	5 : 175921013 - 175921013 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	611	191
FBXL17	64839	broad.mit.edu	37	5	107559841	107559841	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:107559841C>T	ENST00000359660.5	-	5	1313	c.401G>A	c.(400-402)gGa>gAa	p.G134E	FBXL17_ENST00000496714.1_Missense_Mutation_p.G134E|FBXL17_ENST00000542267.1_Missense_Mutation_p.G532E			Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	532	Ala-rich.									endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		GTGAATGACTCCTTTAGAAGT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	107	110			NA	NA	5		NA											NA				107559841		2202	4300	6502	SO:0001583	missense			AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743	64839	64839		F-boxes / Leucine-rich repeats	13615	protein-coding gene	gene with protein product		609083	F-box only protein 13	FBXO13	NA		Standard		NM_001163315	NA	Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000359660.5:c.401G>A	5.37:g.107559841C>T	ENSP00000352683:p.Gly134Glu	NA	A1A4E3	37		.	.	.	.	.	.	.	.	.	.	C	25.2	4.613456	0.87359	.	.	ENSG00000145743	ENST00000359660;ENST00000542267;ENST00000496714	T;T;T	0.17213	2.29;4.3;2.29	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000001	T	0.41627	0.1167	L	0.57536	1.79	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.16719	-1.0393	10	0.72032	D	0.01	.	19.3264	0.94264	0.0:1.0:0.0:0.0	.	532;134	Q9UF56;Q9UF56-2	FXL17_HUMAN;.	E	134;532;134	ENSP00000352683:G134E;ENSP00000437464:G532E;ENSP00000418111:G134E	ENSP00000352683:G134E	G	-	2	0	FBXL17	107587740	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.201000	0.77847	2.586000	0.87340	0.591000	0.81541	GGA	FBXL17-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000357305.3		-	ENST00000359660.5	Missense_Mutation	SNP	5 : 107559841 - 107559841 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	50
ZSCAN12	9753	broad.mit.edu	37	6	28366005	28366005	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28366005G>A	ENST00000361028.1	-	2	323	c.178C>T	c.(178-180)Ccc>Tcc	p.P60S	ZSCAN12_ENST00000396827.3_Missense_Mutation_p.P60S					zinc finger and SCAN domain containing 12	NA										breast(2)|endometrium(3)|urinary_tract(1)	6						GCCTCACGGGGACCAGATGTC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													201	174	182			NA	NA	6		NA											NA				28366005		692	1591	2283	SO:0001583	missense			AB007886		6p21	2013-01-08	2007-02-20	2007-02-20	ENSG00000158691	ENSG00000158691	9753	9753		-, Zinc fingers, C2H2-type	13172	protein-coding gene	gene with protein product		603978	zinc finger protein 305, zinc finger protein 96	ZNF305, ZNF96	NA	9244436	Standard	NM_014724	NM_001163391	NA	Approved	KIAA0426, ZNF29K1, ZFP96, dJ29K1.2	uc011dlh.2	O43309	OTTHUMG00000014522	ENST00000361028.1:c.178C>T	6.37:g.28366005G>A	ENSP00000354305:p.Pro60Ser	NA		37		.	.	.	.	.	.	.	.	.	.	G	20.2	3.957364	0.73902	.	.	ENSG00000158691	ENST00000361028;ENST00000396827	T;T	0.07444	3.19;3.19	3.17	3.17	0.36434	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.33591	N	0.004745	T	0.34919	0.0914	H	0.99444	4.57	0.33831	D	0.630253	D;D	0.89917	1.0;0.999	D;D	0.72982	0.979;0.966	T	0.58284	-0.7663	10	0.66056	D	0.02	.	10.0007	0.41927	0.0:0.0:1.0:0.0	.	60;60	A8K187;O43309	.;ZSC12_HUMAN	S	60	ENSP00000354305:P60S;ENSP00000380039:P60S	ENSP00000354305:P60S	P	-	1	0	ZSCAN12	28473984	0.956000	0.32656	1.000000	0.80357	0.972000	0.66771	3.889000	0.56212	1.761000	0.52028	0.609000	0.83330	CCC	ZSCAN12-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000040190.1		-	ENST00000361028.1	Missense_Mutation	SNP	6 : 28366005 - 28366005 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	223	42
PPP6R2	9701	broad.mit.edu	37	22	50853043	50853043	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50853043C>A	ENST00000359139.3	+	5	871	c.477C>A	c.(475-477)acC>acA	p.T159T	PPP6R2_ENST00000395744.3_Silent_p.T159T|PPP6R2_ENST00000216061.5_Silent_p.T159T|PPP6R2_ENST00000395741.3_Silent_p.T159T	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	159						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						ACATCGGCACCTCAGCGCTTA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	96	101			NA	NA	22		NA											NA				50853043		2203	4300	6503	SO:0001819	synonymous_variant			AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239	9701	9701		Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits	19253	protein-coding gene	gene with protein product		610877	KIAA0685, SAPS domain family, member 2	KIAA0685, SAPS2	NA	16769727	Standard	NM_014678	NM_014678	NA	Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000359139.3:c.477C>A	22.37:g.50853043C>A		NA	A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	37	CCDS56236.1																																																																																			PPP6R2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316806.1		+	ENST00000359139.3	Silent	SNP	22 : 50853043 - 50853043 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	407	51
ACSL5	51703	broad.mit.edu	37	10	114170354	114170354	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114170354G>A	ENST00000393081.1	+	9	1064	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	ACSL5_ENST00000356116.1_Missense_Mutation_p.E309K|ACSL5_ENST00000369410.3_Missense_Mutation_p.E35K|ACSL5_ENST00000354273.4_Missense_Mutation_p.E253K|ACSL5_ENST00000354655.4_Missense_Mutation_p.E253K|ACSL5_ENST00000433418.1_Missense_Mutation_p.E253K	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	253					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		TCCTAGCCCAGAAGACCTGAG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	80	85			NA	NA	10		NA											NA				114170354		2203	4300	6503	SO:0001583	missense			AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142	51703	51703		Acyl-CoA synthetase family	16526	protein-coding gene	gene with protein product	FACL5 for fatty acid coenzyme A ligase 5, long-chain acyl-CoA synthetase 5, long-chain fatty acid coenzyme A ligase 5, fatty-acid-Coenzyme A ligase, long-chain 5	605677	fatty-acid-Coenzyme A ligase, long-chain 5	FACL5	NA	11127823	Standard	NM_016234	NM_016234	NA	Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000393081.1:c.757G>A	10.37:g.114170354G>A	ENSP00000376796:p.Glu253Lys	NA	D3DRB3|Q6UX44|Q9UIU4	37	CCDS7573.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338077	0.60963	.	.	ENSG00000197142	ENST00000354655;ENST00000393081;ENST00000356116;ENST00000433418;ENST00000354273;ENST00000369410	T;T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72;2.72	5.39	4.48	0.54585	AMP-dependent synthetase/ligase (1);	0.386932	0.31051	N	0.008355	T	0.16811	0.0404	M	0.71036	2.16	0.58432	D	0.999993	B;B;B;B	0.19073	0.01;0.033;0.016;0.019	B;B;B;B	0.23150	0.044;0.033;0.03;0.029	T	0.03095	-1.1073	10	0.49607	T	0.09	-19.5706	8.8461	0.35170	0.1669:0.0:0.8331:0.0	.	35;253;309;253	B4DX30;A6GV77;Q9ULC5-3;Q9ULC5	.;.;.;ACSL5_HUMAN	K	253;253;309;253;253;35	ENSP00000346680:E253K;ENSP00000376796:E253K;ENSP00000348429:E309K;ENSP00000403647:E253K;ENSP00000346223:E253K;ENSP00000358418:E35K	ENSP00000346223:E253K	E	+	1	0	ACSL5	114160344	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	5.136000	0.64783	2.524000	0.85096	0.655000	0.94253	GAA	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050386.1		+	ENST00000393081.1	Missense_Mutation	SNP	10 : 114170354 - 114170354 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	219	33
ATMIN	23300	broad.mit.edu	37	16	81077122	81077122	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81077122C>A	ENST00000539819.1	+	0	777				ATMIN_ENST00000566488.1_Missense_Mutation_p.A184D|ATMIN_ENST00000299575.4_Missense_Mutation_p.A340D|ATMIN_ENST00000564241.1_Missense_Mutation_p.A184D			O43313	ATMIN_HUMAN	ATM interactor	NA					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						GCCACAGGGGCTGTGCACTTA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	57	56			NA	NA	16		NA											NA				81077122		2202	4300	6502	SO:0001624	3_prime_UTR_variant			BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454	23300	23300		Zinc fingers, C2H2-type	29034	protein-coding gene	gene with protein product	ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein, ATM INteracting protein	614693			NA	15933716, 17525732, 19001856	Standard	NM_015251	XM_005255866	NA	Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000539819.1:c.*774C>A	16.37:g.81077122C>A		NA	A8K4H8|Q68DC9	37		.	.	.	.	.	.	.	.	.	.	C	15.40	2.821537	0.50633	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.02974	4.09	5.93	5.93	0.95920	.	0.210337	0.49916	D	0.000122	T	0.07188	0.0182	M	0.65975	2.015	0.39799	D	0.972549	P	0.50272	0.933	B	0.41860	0.368	T	0.03231	-1.1058	10	0.87932	D	0	-14.4784	20.3539	0.98825	0.0:1.0:0.0:0.0	.	340	O43313	ATMIN_HUMAN	D	340;111	ENSP00000299575:A340D	ENSP00000299575:A340D	A	+	2	0	ATMIN	79634623	1.000000	0.71417	0.353000	0.25747	0.064000	0.16182	7.262000	0.78410	2.826000	0.97356	0.655000	0.94253	GCT	ATMIN-002	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000432142.1		+	ENST00000539819.1	3'UTR	SNP	16 : 81077122 - 81077122 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	398	134
ZSCAN20	7579	broad.mit.edu	37	1	33960721	33960721	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33960721C>T	ENST00000361328.3	+	8	2930	c.2777C>T	c.(2776-2778)aCt>aTt	p.T926I		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	926					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CGCACCCACACTGGAGAGAAG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	77	73			NA	NA	1		NA											NA				33960721		2143	4275	6418	SO:0001583	missense			X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903	7579	7579		-, Zinc fingers, C2H2-type	13093	protein-coding gene	gene with protein product		611315	zinc finger protein 31 (KOX 29), zinc finger protein 31	ZNF360, ZNF31	NA	2288909	Standard	NM_145238	NM_145238	NA	Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2777C>T	1.37:g.33960721C>T	ENSP00000355053:p.Thr926Ile	NA	A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	37	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242495	0.79912	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.66	5.66	0.87406	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.196572	0.36066	N	0.002802	T	0.79604	0.4474	M	0.75777	2.31	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.991	T	0.81172	-0.1054	9	0.72032	D	0.01	-16.54	17.2441	0.87022	0.0:1.0:0.0:0.0	.	925;926	P17040-3;P17040	.;ZSC20_HUMAN	I	926;860;860	.	ENSP00000324450:T926I	T	+	2	0	ZSCAN20	33733308	1.000000	0.71417	0.999000	0.59377	0.819000	0.46315	6.085000	0.71343	2.648000	0.89879	0.655000	0.94253	ACT	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277003.2		+	ENST00000361328.3	Missense_Mutation	SNP	1 : 33960721 - 33960721 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	464	46
HMHA1	23526	broad.mit.edu	37	19	1074171	1074171	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1074171C>T	ENST00000586866.1	+	7	946	c.871C>T	c.(871-873)Ctg>Ttg	p.L291L	HMHA1_ENST00000536472.1_Silent_p.L127L|HMHA1_ENST00000539243.2_Silent_p.L303L|HMHA1_ENST00000313093.2_Silent_p.L287L|HMHA1_ENST00000543365.1_Silent_p.L170L|HMHA1_ENST00000590214.1_Silent_p.L314L			Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	287					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCGCACTGCTGTATGCCAA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	57	61			NA	NA	19		NA											NA				1074171		2203	4300	6503	SO:0001819	synonymous_variant			D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448	23526	23526		Rho GTPase activating proteins	17102	protein-coding gene	gene with protein product		601155			NA	9820596, 9039502	Standard		NM_012292	NA	Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000586866.1:c.871C>T	19.37:g.1074171C>T		NA	Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	37																																																																																				HMHA1-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000458031.2		+	ENST00000586866.1	Silent	SNP	19 : 1074171 - 1074171 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	421	73
CCDC65	85478	broad.mit.edu	37	12	49298137	49298137	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49298137A>C	ENST00000266984.5	+	1	245	c.18A>C	c.(16-18)aaA>aaC	p.K6N	RP11-302B13.5_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Missense_Mutation_p.K6N			Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	6										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AGAAAGAAAAAATGGCCAAGA	0.537		NA									OREG0021772	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	101	98			NA	NA	12		NA											NA				49298137		2203	4300	6503	SO:0001583	missense				CCDS8772.1	12q13.12	2014-07-18			ENSG00000139537	ENSG00000139537	85478	85478			29937	protein-coding gene	gene with protein product		611088			NA	17089017, 21700706	Standard	NM_033124	NM_033124	NA	Approved	NYD-SP28, FLJ35732, FAP250, CILD27	uc001rso.3	Q8IXS2		ENST00000266984.5:c.18A>C	12.37:g.49298137A>C	ENSP00000266984:p.Lys6Asn	961	A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	37		.	.	.	.	.	.	.	.	.	.	A	13.78	2.338442	0.41398	.	.	ENSG00000139537	ENST00000266984;ENST00000552942;ENST00000320516	T;T;T	0.62941	0.79;-0.01;0.85	5.06	1.45	0.22620	.	0.052686	0.64402	D	0.000001	T	0.61974	0.2390	M	0.71581	2.175	0.38560	D	0.949689	P	0.40731	0.728	P	0.44359	0.447	T	0.63292	-0.6670	10	0.66056	D	0.02	-17.724	8.3444	0.32263	0.6786:0.0:0.3214:0.0	.	6	Q8IXS2	CCD65_HUMAN	N	6	ENSP00000266984:K6N;ENSP00000446569:K6N;ENSP00000312706:K6N	ENSP00000266984:K6N	K	+	3	2	CCDC65	47584404	1.000000	0.71417	0.997000	0.53966	0.136000	0.21042	0.566000	0.23593	0.156000	0.19299	-0.274000	0.10170	AAA	CCDC65-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000408919.1		+	ENST00000266984.5	Missense_Mutation	SNP	12 : 49298137 - 49298137 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	880	145
ZNF665	79788	broad.mit.edu	37	19	53668078	53668078	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53668078C>T	ENST00000600412.1	-	2	1585	c.1470G>A	c.(1468-1470)tcG>tcA	p.S490S	ZNF665_ENST00000396424.3_Silent_p.S555S			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	490					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TTGCAAGGTACGAATTGTGTC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	147	144			NA	NA	19		NA											NA				53668078		2202	4299	6501	SO:0001819	synonymous_variant				CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497	79788	79788		Zinc fingers, C2H2-type, -	25885	protein-coding gene	gene with protein product					NA		Standard	NM_024733	NM_024733	NA	Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.1470G>A	19.37:g.53668078C>T		NA	A8K5T8	37																																																																																				ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000464179.1		-	ENST00000600412.1	Silent	SNP	19 : 53668078 - 53668078 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	625	114
WDR90	197335	broad.mit.edu	37	16	708595	708595	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:708595C>A	ENST00000549091.1	+	23	2929	c.2837C>A	c.(2836-2838)gCc>gAc	p.A946D	WDR90_ENST00000293879.4_Missense_Mutation_p.A946D	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	946										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CTGCTGATTGCCGCCGGCCGG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	44	42			NA	NA	16		NA											NA				708595		2058	4171	6229	SO:0001583	missense			AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996	197335	197335		WD repeat domain containing	26960	protein-coding gene	gene with protein product			chromosome 16 open reading frame 17, chromosome 16 open reading frame 15, chromosome 16 open reading frame 16, chromosome 16 open reading frame 19, chromosome 16 open reading frame 18	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18	NA	11572484, 11157797	Standard	NM_145294	XM_005255160	NA	Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000549091.1:c.2837C>A	16.37:g.708595C>A	ENSP00000448122:p.Ala946Asp	NA	Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	37		.	.	.	.	.	.	.	.	.	.	C	17.09	3.299650	0.60195	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.56444	0.46;3.32	5.42	4.47	0.54385	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	U	0.000000	T	0.75686	0.3883	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.985	T	0.80754	-0.1241	10	0.87932	D	0	.	13.2126	0.59834	0.0:0.9232:0.0:0.0768	.	946;946	F8VUX9;Q96KV7	.;WDR90_HUMAN	D	946	ENSP00000448122:A946D;ENSP00000293879:A946D	ENSP00000293879:A946D	A	+	2	0	WDR90	648596	1.000000	0.71417	0.010000	0.14722	0.000000	0.00434	6.960000	0.76036	1.294000	0.44707	-0.136000	0.14681	GCC	WDR90-001	NOVEL	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000109343.3		+	ENST00000549091.1	Missense_Mutation	SNP	16 : 708595 - 708595 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	456	102
PRUNE2	158471	broad.mit.edu	37	9	79320790	79320790	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79320790G>A	ENST00000376718.3	-	8	6523	c.6400C>T	c.(6400-6402)Ctt>Ttt	p.L2134F	PRUNE2_ENST00000428286.1_Missense_Mutation_p.L1775F	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2134					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GTGAGACAAAGCTCACTGGAT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	135	139			NA	NA	9		NA											NA				79320790		1568	3582	5150	SO:0001583	missense			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772	158471	158471			25209	protein-coding gene	gene with protein product	olfaxin	610691	chromosome 9 open reading frame 65, KIAA0367	C9orf65, KIAA0367	NA	16288218	Standard	NM_138818	NM_015225	NA	Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.6400C>T	9.37:g.79320790G>A	ENSP00000365908:p.Leu2134Phe	NA	B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	37	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.566|6.566	0.472728|0.472728	0.12461|0.12461	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.48836	.|0.81;0.8	5.88|5.88	0.462|0.462	0.16695|0.16695	.|.	.|1.215700	.|0.05871	.|N	.|0.624565	T|T	0.27765|0.27765	0.0683|0.0683	N|N	0.16903|0.16903	0.455|0.455	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.08055	.|0.003	T|T	0.16719|0.16719	-1.0393|-1.0393	5|10	.|0.34782	.|T	.|0.22	0.4604|0.4604	1.4907|1.4907	0.02456|0.02456	0.2165:0.1181:0.3431:0.3223|0.2165:0.1181:0.3431:0.3223	.|.	.|2134	.|Q8WUY3	.|PRUN2_HUMAN	V|F	1455|2134;1775;2133	.|ENSP00000365908:L2134F;ENSP00000397425:L1775F	.|ENSP00000365908:L2134F	A|L	-|-	2|1	0|0	PRUNE2|PRUNE2	78510610|78510610	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.151000|0.151000	0.21798|0.21798	-0.644000|-0.644000	0.05415|0.05415	-0.156000|-0.156000	0.11079|0.11079	0.655000|0.655000	0.94253|0.94253	GCT|CTT	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052730.2		-	ENST00000376718.3	Missense_Mutation	SNP	9 : 79320790 - 79320790 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	662	115
ABCG1	9619	broad.mit.edu	37	21	43706095	43706095	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43706095G>T	ENST00000398437.1	+	9	1550	c.1402G>T	c.(1402-1404)Gca>Tca	p.A468S	ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Missense_Mutation_p.A324S|ABCG1_ENST00000343687.3_Missense_Mutation_p.A333S|ABCG1_ENST00000340588.4_Missense_Mutation_p.A430S|ABCG1_ENST00000398449.3_Missense_Mutation_p.A322S|ABCG1_ENST00000361802.2_Missense_Mutation_p.A322S|ABCG1_ENST00000347800.2_Missense_Mutation_p.A319S			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	322	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CCACAACCCAGCAGATTTTGG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	144	144			NA	NA	21		NA											NA				43706095		2203	4300	6503	SO:0001583	missense			U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179	9619	9619		ATP binding cassette transporters / subfamily G	73	protein-coding gene	gene with protein product	ATP-binding cassette transporter 8	603076			NA	8659545, 16870176	Standard	NM_207174	NM_016818	NA	Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000398437.1:c.1402G>T	21.37:g.43706095G>T	ENSP00000381464:p.Ala468Ser	NA	Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.4|23.4	4.409956|4.409956	0.83340|0.83340	.|.	.|.	ENSG00000160179|ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588|ENST00000489035;ENST00000469119;ENST00000482161	T;T;T;T;T;T;T|.	0.64260|.	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09|.	4.03|4.03	4.03|4.03	0.46877|0.46877	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58424|0.58424	0.2121|0.2121	L|L	0.35793|0.35793	1.09|1.09	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	0.995;0.994;1.0;0.994;0.997;0.996|.	P;D;D;D;D;D|.	0.75484|.	0.893;0.95;0.983;0.95;0.976;0.986|.	T|T	0.56505|0.56505	-0.7968|-0.7968	9|5	.|.	.|.	.|.	-18.6548|-18.6548	16.5443|16.5443	0.84410|0.84410	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	333;333;322;322;319;324|.	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3|.	.;.;ABCG1_HUMAN;.;.;.|.	S|I	324;319;322;322;333;468;430|57	ENSP00000381475:A324S;ENSP00000291524:A319S;ENSP00000381467:A322S;ENSP00000354995:A322S;ENSP00000339744:A333S;ENSP00000381464:A468S;ENSP00000343820:A430S|.	.|.	A|S	+|+	1|2	0|0	ABCG1|ABCG1	42579164|42579164	1.000000|1.000000	0.71417|0.71417	0.720000|0.720000	0.30636|0.30636	0.956000|0.956000	0.61745|0.61745	8.930000|8.930000	0.92872|0.92872	1.930000|1.930000	0.55929|0.55929	0.655000|0.655000	0.94253|0.94253	GCA|AGC	ABCG1-008	KNOWN	non_canonical_TEC|basic	protein_coding	NA	protein_coding	OTTHUMT00000195320.1		+	ENST00000398437.1	Missense_Mutation	SNP	21 : 43706095 - 43706095 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	764	159
ATN1	1822	broad.mit.edu	37	12	7045789	7045789	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7045789C>A	ENST00000356654.4	+	5	1596	c.1359C>A	c.(1357-1359)gcC>gcA	p.A453A	ATN1_ENST00000396684.2_Silent_p.A453A	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	453					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GCCTCTTAGCCAACAGCAATG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	157	157			NA	NA	12		NA											NA				7045789		2203	4300	6503	SO:0001819	synonymous_variant			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676	1822	1822			3033	protein-coding gene	gene with protein product		607462	dentatorubral-pallidoluysian atrophy (atrophin-1)	D12S755E, DRPLA	NA	8136826	Standard	NM_001940	NM_001940	NA	Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1359C>A	12.37:g.7045789C>A		NA	Q99495|Q99621|Q9UEK7	37	CCDS31734.1																																																																																			ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401948.2		+	ENST00000356654.4	Silent	SNP	12 : 7045789 - 7045789 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1755	296
SMYD1	150572	broad.mit.edu	37	2	88387540	88387540	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88387540G>A	ENST00000444564.2	+	3	514	c.474G>A	c.(472-474)tgG>tgA	p.W158*	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000468008.1_3'UTR|SMYD1_ENST00000419482.2_Nonsense_Mutation_p.W158*			Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	158	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TGCAGTACTGGCCGCCGCAGA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	84	97			NA	NA	2		NA											NA				88387540		2203	4300	6503	SO:0001587	stop_gained			AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593	150572	150572		Zinc fingers, MYND-type, Chromatin-modifying enzymes / K-methyltransferases	20986	protein-coding gene	gene with protein product		606846			NA	11923873	Standard	XM_097915	NM_198274	NA	Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000444564.2:c.474G>A	2.37:g.88387540G>A	ENSP00000407888:p.Trp158*	NA	A0AV30|A6NE13	37		.	.	.	.	.	.	.	.	.	.	G	37	6.020194	0.97211	.	.	ENSG00000115593	ENST00000419482;ENST00000444564	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5508	17.7216	0.88353	0.0:0.0:1.0:0.0	.	.	.	.	X	158	.	ENSP00000393453:W158X	W	+	3	0	SMYD1	88168655	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.365000	0.97139	2.481000	0.83766	0.561000	0.74099	TGG	SMYD1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000338230.2		+	ENST00000444564.2	Nonsense_Mutation	SNP	2 : 88387540 - 88387540 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	106
XKR6	286046	broad.mit.edu	37	8	10755726	10755726	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10755726G>A	ENST00000416569.2	-	3	1688	c.1662C>T	c.(1660-1662)ctC>ctT	p.L554L	XKR6_ENST00000304437.2_Silent_p.L275L	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	554						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		TGTCAGCCGTGAGATCCTCCT	0.612		NA											G	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	4e-04	0.95	LOWCOV,EXOME	NA	NA	0.0012	SNP								NA				0													57	45	49			NA	NA	8		NA											NA				10755726		2203	4300	6503	SO:0001819	synonymous_variant			BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044	286046	286046			27806	protein-coding gene	gene with protein product			chromosome 8 open reading frame 7, chromosome 8 open reading frame 21, X Kell blood group precursor-related family, member 6, chromosome 8 open reading frame 5	C8orf7, C8orf21, C8orf5	NA		Standard	NM_173683	NM_173683	NA	Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.1662C>T	8.37:g.10755726G>A		NA	Q8TBA0	37	CCDS5978.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	3.635	-0.074829	0.07184	.	.	ENSG00000171044	ENST00000382461	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	T	0.61324	0.2338	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58792	-0.7574	4	.	.	.	-7.9244	10.5583	0.45131	0.0878:0.0:0.9122:0.0	.	.	.	.	L	331	.	.	S	-	2	0	XKR6	10793136	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.189000	0.42621	2.479000	0.83701	0.561000	0.74099	TCA	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383958.1		-	ENST00000416569.2	Silent	SNP	8 : 10755726 - 10755726 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	201	40
EFHD2	79180	broad.mit.edu	37	1	15755181	15755181	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15755181G>A	ENST00000375980.4	+	4	761	c.684G>A	c.(682-684)cgG>cgA	p.R228R		NM_024329.5	NP_077305.2	Q96C19	EFHD2_HUMAN	EF-hand domain family, member D2	228						membrane raft				large_intestine(1)|skin(1)	2		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		TGAAGCAGCGGAAAGCGGCCT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	74	77			NA	NA	1		NA											NA				15755181		2201	4299	6500	SO:0001819	synonymous_variant			BC014923	CCDS155.1	1p36	2014-07-01	2005-01-25		ENSG00000142634	ENSG00000142634	79180	79180		EF-hand domain containing	28670	protein-coding gene	gene with protein product	swiprosin-1		EF hand domain containing 2		NA	21244694	Standard	NM_024329	NM_024329	NA	Approved	MGC4342	uc001awh.2	Q96C19	OTTHUMG00000002254	ENST00000375980.4:c.684G>A	1.37:g.15755181G>A		NA	Q5JYW9	37	CCDS155.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.14|15.14	2.745074|2.745074	0.49151|0.49151	.|.	.|.	ENSG00000142634|ENSG00000142634	ENST00000375975|ENST00000445566	.|.	.|.	.|.	4.37|4.37	1.22|1.22	0.21188|0.21188	.|.	.|.	.|.	.|.	.|.	T|T	0.54029|0.54029	0.1833|0.1833	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.44421|0.44421	-0.9329|-0.9329	5|4	0.87932|.	D|.	0|.	-9.0778|-9.0778	6.9481|6.9481	0.24530|0.24530	0.1814:0.4067:0.4119:0.0|0.1814:0.4067:0.4119:0.0	.|.	.|.	.|.	.|.	K|E	167|168	.|.	ENSP00000365142:E167K|.	E|G	+|+	1|2	0|0	EFHD2|EFHD2	15627768|15627768	0.103000|0.103000	0.21917|0.21917	0.999000|0.999000	0.59377|0.59377	0.867000|0.867000	0.49689|0.49689	-0.305000|-0.305000	0.08188|0.08188	0.357000|0.357000	0.24183|0.24183	0.462000|0.462000	0.41574|0.41574	GAA|GGA	EFHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006433.1		+	ENST00000375980.4	Silent	SNP	1 : 15755181 - 15755181 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	60	7
ZMYM5	9205	broad.mit.edu	37	13	20409711	20409711	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20409711T>C	ENST00000337963.4	-	7	1421	c.1157A>G	c.(1156-1158)tAc>tGc	p.Y386C		NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	386						nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ACTAGGCATGTACTCTCCACA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	115	122			NA	NA	13		NA											NA				20409711		1568	3582	5150	SO:0001583	missense			AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950	9205	9205		Zinc fingers, MYM type	13029	protein-coding gene	gene with protein product			zinc finger protein 237	ZNF237	NA		Standard	NM_014242	NM_001039650	NA	Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.1157A>G	13.37:g.20409711T>C	ENSP00000337034:p.Tyr386Cys	NA	B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	37		.	.	.	.	.	.	.	.	.	.	T	20.9	4.065139	0.76187	.	.	ENSG00000132950	ENST00000337963;ENST00000502168	T;T	0.27720	1.65;1.66	4.88	4.88	0.63580	TRASH (1);Zinc finger, MYM-type (1);	0.000000	0.85682	D	0.000000	T	0.59959	0.2232	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67593	-0.5631	10	0.87932	D	0	-10.2506	14.9478	0.71047	0.0:0.0:0.0:1.0	.	386	Q9UJ78	ZMYM5_HUMAN	C	386;376	ENSP00000337034:Y386C;ENSP00000445779:Y376C	ENSP00000337034:Y386C	Y	-	2	0	ZMYM5	19307711	1.000000	0.71417	0.800000	0.32199	0.950000	0.60333	7.459000	0.80802	2.176000	0.68965	0.454000	0.30748	TAC	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding			-	ENST00000337963.4	Missense_Mutation	SNP	13 : 20409711 - 20409711 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	172	42
RIPK4	54101	broad.mit.edu	37	21	43161377	43161377	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43161377C>T	ENST00000332512.3	-	8	2040	c.1976G>A	c.(1975-1977)cGg>cAg	p.R659Q	AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000352483.2_Missense_Mutation_p.R707Q|RIPK4_ENST00000542057.1_Missense_Mutation_p.R596Q|RIPK4_ENST00000544709.1_Missense_Mutation_p.R596Q	NM_020639.2	NP_065690.2	Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	659						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCCAGCGCCCCGATGCAGGAG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	44	44			NA	NA	21		NA											NA				43161377		2203	4299	6502	SO:0001583	missense			AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421	54101	54101		Ankyrin repeat domain containing	496	protein-coding gene	gene with protein product	protein kinase C-associated kinase, PKC-delta-interacting protein kinase	605706	ankyrin repeat domain 3	ANKRD3	NA	10830953	Standard	NM_020639	NM_020639	NA	Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000332512.3:c.1976G>A	21.37:g.43161377C>T	ENSP00000332454:p.Arg659Gln	NA		37	CCDS13675.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.40|14.40	2.525443|2.525443	0.44969|0.44969	.|.	.|.	ENSG00000183421|ENSG00000183421	ENST00000330470|ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	.|T;T;T;T	.|0.65549	.|-0.16;-0.16;-0.16;-0.16	4.52|4.52	3.63|3.63	0.41609|0.41609	.|.	.|0.225320	.|0.30311	.|N	.|0.009918	T|T	0.50582|0.50582	0.1624|0.1624	L|L	0.28458|0.28458	0.855|0.855	0.36028|0.36028	D|D	0.839186|0.839186	.|D	.|0.56287	.|0.975	.|P	.|0.47891	.|0.56	T|T	0.53753|0.53753	-0.8394|-0.8394	6|10	0.87932|0.21540	D|T	0|0.41	-13.8925|-13.8925	8.2319|8.2319	0.31603|0.31603	0.0:0.7918:0.0:0.2082|0.0:0.7918:0.0:0.2082	.|.	.|659	.|P57078-2	.|.	R|Q	395|659;707;596;596	.|ENSP00000332454:R659Q;ENSP00000330161:R707Q;ENSP00000441754:R596Q;ENSP00000442901:R596Q	ENSP00000330975:G395R|ENSP00000332454:R659Q	G|R	-|-	1|2	0|0	RIPK4|RIPK4	42034446|42034446	0.778000|0.778000	0.28640|0.28640	0.842000|0.842000	0.33263|0.33263	0.561000|0.561000	0.35649|0.35649	1.287000|1.287000	0.33284|0.33284	0.882000|0.882000	0.36016|0.36016	0.561000|0.561000	0.74099|0.74099	GGG|CGG	RIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195204.1		-	ENST00000332512.3	Missense_Mutation	SNP	21 : 43161377 - 43161377 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	448	56
SP100	6672	broad.mit.edu	37	2	231308927	231308927	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231308927T>C	ENST00000264052.5	+	4	660	c.305T>C	c.(304-306)gTa>gCa	p.V102A	SP100_ENST00000409824.1_Missense_Mutation_p.V77A|SP100_ENST00000427101.2_Missense_Mutation_p.V77A|SP100_ENST00000341950.4_Missense_Mutation_p.V102A|SP100_ENST00000409112.1_Missense_Mutation_p.V102A|SP100_ENST00000409341.1_Missense_Mutation_p.V102A|SP100_ENST00000340126.4_Missense_Mutation_p.V102A|SP100_ENST00000409897.1_Missense_Mutation_p.V67A	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	102	HSR.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTGGTCCCTGTACAGAGAGTG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	102	102			NA	NA	2		NA											NA				231308927		2203	4300	6503	SO:0001583	missense			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066	6672	6672		Zinc fingers, PHD-type	11206	protein-coding gene	gene with protein product		604585	nuclear antigen Sp100		NA	2258622, 8695863	Standard	NM_003113	NM_001080391	NA	Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.305T>C	2.37:g.231308927T>C	ENSP00000264052:p.Val102Ala	NA	E9PH61|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	37	CCDS2477.1	.	.	.	.	.	.	.	.	.	.	T	11.74	1.729837	0.30684	.	.	ENSG00000067066	ENST00000264052;ENST00000427101;ENST00000432979;ENST00000409824;ENST00000409341;ENST00000409112;ENST00000340126;ENST00000341950;ENST00000409897	D;D;D;D;D;D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79	3.89	3.89	0.44902	Sp100 (2);	.	.	.	.	D	0.97059	0.9039	M	0.79123	2.44	0.09310	N	0.999999	D;D;D;D;D;D;P;D	0.76494	0.993;0.996;0.995;0.993;0.999;0.979;0.955;0.998	P;D;D;P;D;P;P;D	0.72625	0.907;0.932;0.944;0.775;0.978;0.779;0.858;0.948	D	0.91134	0.4940	9	0.87932	D	0	.	9.3921	0.38378	0.0:0.0:0.0:1.0	.	77;102;67;102;102;102;77;102	F8WFE2;B4E2B9;B8ZZD8;P23497-4;P23497;E7EUA7;E9PHV6;P23497-2	.;.;.;.;SP100_HUMAN;.;.;.	A	102;77;77;77;102;102;102;102;67	ENSP00000264052:V102A;ENSP00000399389:V77A;ENSP00000391616:V77A;ENSP00000387311:V77A;ENSP00000386404:V102A;ENSP00000386427:V102A;ENSP00000343023:V102A;ENSP00000342729:V102A;ENSP00000386998:V67A	ENSP00000264052:V102A	V	+	2	0	SP100	231017171	0.896000	0.30565	0.350000	0.25708	0.016000	0.09150	2.865000	0.48412	1.997000	0.58415	0.455000	0.32223	GTA	SP100-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256914.2		+	ENST00000264052.5	Missense_Mutation	SNP	2 : 231308927 - 231308927 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	526	100
RBM46	166863	broad.mit.edu	37	4	155749142	155749142	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155749142T>C	ENST00000510397.1	+	0	2804				RBM46_ENST00000281722.3_Missense_Mutation_p.S509P	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	NA							nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				CTATCCTTTGTCACCAACAAT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	161	163			NA	NA	4		NA											NA				155749142		2203	4300	6503	SO:0001624	3_prime_UTR_variant			BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962	166863	166863		RNA binding motif (RRM) containing	28401	protein-coding gene	gene with protein product	cancer/testis antigen 68				NA	12477932	Standard	NM_144979	NM_144979	NA	Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000510397.1:c.*1212T>C	4.37:g.155749142T>C		NA		37		.	.	.	.	.	.	.	.	.	.	T	15.74	2.923194	0.52653	.	.	ENSG00000151962	ENST00000281722	T	0.20463	2.07	5.67	4.49	0.54785	.	0.000000	0.43260	D	0.000590	T	0.09291	0.0229	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18555	-1.0333	10	0.15066	T	0.55	-10.9458	7.6213	0.28187	0.1256:0.0701:0.0:0.8043	.	509	Q8TBY0	RBM46_HUMAN	P	509	ENSP00000281722:S509P	ENSP00000281722:S509P	S	+	1	0	RBM46	155968592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.048000	0.49862	1.077000	0.40990	0.533000	0.62120	TCA	RBM46-001	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000365257.1		+	ENST00000510397.1	3'UTR	SNP	4 : 155749142 - 155749142 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	768	178
TRIM51	84767	broad.mit.edu	37	11	55658776	55658776	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55658776T>C	ENST00000449290.2	+	7	1119	c.1027T>C	c.(1027-1029)Tgg>Cgg	p.W343R	TRIM51_ENST00000244891.3_Missense_Mutation_p.W200R	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	343	B30.2/SPRY.					intracellular	zinc ion binding				NA						CAAATATTATTGGGAGGTTCA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	87	85			NA	NA	11		NA											NA				55658776		2100	4041	6141	SO:0001583	missense			BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900	84767	84767		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	19023	protein-coding gene	gene with protein product			SPRY domain containing 5	SPRYD5	NA		Standard	NM_032681	NM_032681	NA	Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.1027T>C	11.37:g.55658776T>C	ENSP00000395086:p.Trp343Arg	NA	A6NMG2	37		.	.	.	.	.	.	.	.	.	.	.	14.67	2.603919	0.46423	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	D;D	0.86432	-2.12;-2.12	1.36	1.36	0.22044	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	D	0.94460	0.8217	H	0.96691	3.865	0.24143	N	0.995722	D	0.89917	1.0	D	0.87578	0.998	D	0.84579	0.0660	9	0.87932	D	0	.	5.1325	0.14917	0.0:0.0:0.0:1.0	.	343	Q9BSJ1	SPRY5_HUMAN	R	343;200	ENSP00000395086:W343R;ENSP00000244891:W200R	ENSP00000244891:W200R	W	+	1	0	SPRYD5	55415352	1.000000	0.71417	0.077000	0.20336	0.407000	0.30961	3.040000	0.49799	0.540000	0.28808	0.136000	0.15936	TGG	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000391522.1		+	ENST00000449290.2	Missense_Mutation	SNP	11 : 55658776 - 55658776 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	698	116
PKP3	11187	broad.mit.edu	37	11	399008	399008	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:399008C>T	ENST00000331563.2	+	5	1161	c.1085C>T	c.(1084-1086)gCc>gTc	p.A362V		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	362					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCCTTCAGGCCGTGCCTAGG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	83	88			NA	NA	11		NA											NA				399008		2199	4292	6491	SO:0001583	missense			Z98265	CCDS7695.1	11p15	2013-02-14			ENSG00000184363	ENSG00000184363	11187	11187		Armadillo repeat containing	9025	protein-coding gene	gene with protein product		605561			NA	10374265	Standard	NM_007183	XM_005252760	NA	Approved		uc001lpc.3	Q9Y446	OTTHUMG00000119068	ENST00000331563.2:c.1085C>T	11.37:g.399008C>T	ENSP00000331678:p.Ala362Val	NA	Q53EX8	37	CCDS7695.1	.	.	.	.	.	.	.	.	.	.	c	15.09	2.731141	0.48939	.	.	ENSG00000184363	ENST00000331563	T	0.70282	-0.47	3.99	3.99	0.46301	Armadillo-like helical (1);Armadillo-type fold (1);	0.067408	0.64402	D	0.000018	T	0.74298	0.3698	N	0.25647	0.755	0.49130	D	0.999757	D	0.69078	0.997	D	0.65140	0.932	T	0.79347	-0.1841	10	0.87932	D	0	-9.5982	16.4754	0.84131	0.0:1.0:0.0:0.0	.	362	Q9Y446	PKP3_HUMAN	V	362	ENSP00000331678:A362V	ENSP00000331678:A362V	A	+	2	0	PKP3	389008	1.000000	0.71417	0.891000	0.34965	0.225000	0.24961	4.398000	0.59697	1.968000	0.57251	0.486000	0.48141	GCC	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239281.1		+	ENST00000331563.2	Missense_Mutation	SNP	11 : 399008 - 399008 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	461	69
GOLT1B	51026	broad.mit.edu	37	12	21659878	21659878	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21659878T>G	ENST00000542038.1	+	2	156				GOLT1B_ENST00000535593.1_Intron|GOLT1B_ENST00000229314.5_Missense_Mutation_p.F29V|GOLT1B_ENST00000540141.1_Missense_Mutation_p.F29V			Q9Y3E0	GOT1B_HUMAN	golgi transport 1B	NA					positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport|vesicle-mediated transport	endoplasmic reticulum|Golgi membrane|integral to membrane	signal transducer activity			large_intestine(2)|lung(3)	5						AATGATTCTCTTTTTTGACAA	0.274		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	139	139			NA	NA	12		NA											NA				21659878		2202	4296	6498	SO:0001627	intron_variant			AB097020	CCDS8689.1	12p13.1	2010-06-24	2010-06-24		ENSG00000111711	ENSG00000111711	51026	51026			20175	protein-coding gene	gene with protein product		615078	golgi transport 1 homolog B (S. cerevisiae)		NA	12414650, 10810093	Standard	NM_016072	NM_016072	NA	Approved	CGI-141, YMR292W, GOT1	uc001rez.2	Q9Y3E0	OTTHUMG00000169133	ENST00000542038.1:c.-75-1439T>G	12.37:g.21659878T>G		NA	B2R4R4|Q54A40|Q6I9W6|Q9P1R9	37		.	.	.	.	.	.	.	.	.	.	T	19.99	3.928820	0.73327	.	.	ENSG00000111711	ENST00000540141;ENST00000229314	T;T	0.39056	1.1;1.1	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.65668	0.2713	M	0.84433	2.695	0.80722	D	1	D	0.55605	0.972	P	0.61070	0.883	T	0.72211	-0.4359	10	0.72032	D	0.01	-6.893	15.3788	0.74637	0.0:0.0:0.0:1.0	.	29	Q9Y3E0	GOT1B_HUMAN	V	29	ENSP00000437351:F29V;ENSP00000229314:F29V	ENSP00000229314:F29V	F	+	1	0	GOLT1B	21551145	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.794000	0.85869	2.213000	0.71641	0.477000	0.44152	TTT	GOLT1B-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000402381.1		+	ENST00000542038.1	Intron	SNP	12 : 21659878 - 21659878 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	350	82
GCC1	79571	broad.mit.edu	37	7	127225162	127225162	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127225162C>T	ENST00000321407.2	-	1	499	c.75G>A	c.(73-75)aaG>aaA	p.K25K	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	25						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GAAGCTGCTTCTTCTGGGTCT	0.552		NA									OREG0003808	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	101	100			NA	NA	7		NA											NA				127225162		2203	4300	6503	SO:0001819	synonymous_variant			AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562	79571	79571			19095	protein-coding gene	gene with protein product		607418	golgi coiled-coil 1		NA	10209125	Standard	NM_024523	NM_024523	NA	Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.75G>A	7.37:g.127225162C>T		1555	Q9H6N7	37	CCDS5796.1																																																																																			GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059911.3		-	ENST00000321407.2	Silent	SNP	7 : 127225162 - 127225162 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	873	158
STOX2	56977	broad.mit.edu	37	4	184931469	184931469	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184931469C>T	ENST00000308497.4	+	3	2913	c.1478C>T	c.(1477-1479)tCg>tTg	p.S493L	STOX2_ENST00000438269.1_Missense_Mutation_p.S493L	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	493					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		AGATCCAGGTCGATGGATAAC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	44	42			NA	NA	4		NA											NA				184931469		1925	4150	6075	SO:0001583	missense			AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320	56977	56977			25450	protein-coding gene	gene with protein product					NA		Standard	NM_020225	XM_005263142	NA	Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.1478C>T	4.37:g.184931469C>T	ENSP00000311257:p.Ser493Leu	NA	A6H8U4|Q9NPS8	37	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078638	0.76528	.	.	ENSG00000173320	ENST00000308497;ENST00000438269	T;D	0.84730	-0.91;-1.89	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.89280	0.6670	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.81914	0.995;0.968	D	0.89592	0.3828	10	0.72032	D	0.01	-15.3942	19.9142	0.97043	0.0:1.0:0.0:0.0	.	493;493	Q9P2F5-2;Q9P2F5	.;STOX2_HUMAN	L	493	ENSP00000311257:S493L;ENSP00000390127:S493L	ENSP00000311257:S493L	S	+	2	0	STOX2	185168463	1.000000	0.71417	0.168000	0.22838	0.844000	0.47949	7.320000	0.79064	2.941000	0.99782	0.655000	0.94253	TCG	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361433.3		+	ENST00000308497.4	Missense_Mutation	SNP	4 : 184931469 - 184931469 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	42	9
CC2D2A	57545	broad.mit.edu	37	4	15534870	15534870	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15534870G>T	ENST00000503292.1	+	15	1701	c.1521G>T	c.(1519-1521)aaG>aaT	p.K507N	CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000424120.1_Missense_Mutation_p.K507N|CC2D2A_ENST00000389652.5_Missense_Mutation_p.K458N|CC2D2A_ENST00000413206.1_Missense_Mutation_p.K507N	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	507					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						CATTGCTTAAGACTATCATAA	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	57	57			NA	NA	4		NA											NA				15534870		1810	4068	5878	SO:0001583	missense			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342	57545	57545			29253	protein-coding gene	gene with protein product	Meckel syndrome, type 6	612013			NA	10718198, 18513680	Standard	NM_001080522	NM_001080522	NA	Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.1521G>T	4.37:g.15534870G>T	ENSP00000421809:p.Lys507Asn	NA	A6ND97|B3FW08|Q3SYP3|Q9H8A7	37	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631078	0.67015	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000512702;ENST00000503292;ENST00000389652	D;D;T;D;D	0.84730	-1.88;-1.88;-0.31;-1.88;-1.89	5.38	3.58	0.41010	.	0.000000	0.85682	D	0.000000	D	0.90607	0.7055	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.89871	0.4023	10	0.51188	T	0.08	.	9.6005	0.39601	0.2355:0.0:0.7645:0.0	.	507;458	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	N	507;507;458;458;507;507;458	ENSP00000403465:K507N;ENSP00000398391:K507N;ENSP00000422875:K507N;ENSP00000421809:K507N;ENSP00000374303:K458N	ENSP00000374303:K458N	K	+	3	2	CC2D2A	15143968	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	1.636000	0.37144	1.193000	0.43086	0.557000	0.71058	AAG	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359906.2		+	ENST00000503292.1	Missense_Mutation	SNP	4 : 15534870 - 15534870 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	97	12
ALKBH4	54784	broad.mit.edu	37	7	102098304	102098304	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102098304C>T	ENST00000292566.3	-	3	485	c.446G>A	c.(445-447)cGg>cAg	p.R149Q		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	149						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(5)|skin(2)	8						CTCGACGGGCCGGAAGCCCTC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	25	25			NA	NA	7		NA											NA				102098304		2202	4299	6501	SO:0001583	missense			BC017096	CCDS5723.1	7q22.1	2006-02-09			ENSG00000160993	ENSG00000160993	54784	54784		Alkylation repair homologs	21900	protein-coding gene	gene with protein product		613302			NA		Standard	NM_017621	NM_017621	NA	Approved	FLJ20013	uc003uzl.3	Q9NXW9	OTTHUMG00000157720	ENST00000292566.3:c.446G>A	7.37:g.102098304C>T	ENSP00000292566:p.Arg149Gln	NA	Q53H92|Q9H6A4	37	CCDS5723.1	.	.	.	.	.	.	.	.	.	.	C	7.646	0.681915	0.14907	.	.	ENSG00000160993	ENST00000292566	T	0.46063	0.88	4.56	-2.03	0.07365	.	0.599443	0.16196	N	0.225149	T	0.12518	0.0304	N	0.02985	-0.445	0.30285	N	0.790978	B	0.15719	0.014	B	0.08055	0.003	T	0.30995	-0.9959	10	0.09338	T	0.73	-14.5705	4.4711	0.11714	0.261:0.2274:0.0:0.5116	.	149	Q9NXW9	ALKB4_HUMAN	Q	149	ENSP00000292566:R149Q	ENSP00000292566:R149Q	R	-	2	0	ALKBH4	101885309	0.994000	0.37717	0.976000	0.42696	0.960000	0.62799	0.346000	0.19997	-0.161000	0.10983	-0.258000	0.10820	CGG	ALKBH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349503.1		-	ENST00000292566.3	Missense_Mutation	SNP	7 : 102098304 - 102098304 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	22
SCYL3	57147	broad.mit.edu	37	1	169847944	169847944	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169847944C>T	ENST00000367771.6	-	3	396	c.182G>A	c.(181-183)cGt>cAt	p.R61H	SCYL3_ENST00000367770.1_Missense_Mutation_p.R61H|SCYL3_ENST00000367772.4_Missense_Mutation_p.R61H|SCYL3_ENST00000470238.1_5'UTR	NM_020423.6	NP_065156.5	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	NA	Protein kinase.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCAAGGGTGACGAAGTGTCTT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	104	104			NA	NA	1		NA											NA				169847944		2203	4300	6503	SO:0001583	missense			BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457	57147	57147			19285	protein-coding gene	gene with protein product	ezrin-binding partner PACE-1	608192			NA	12651155	Standard	NM_181093	NM_020423	NA	Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367771.6:c.182G>A	1.37:g.169847944C>T	ENSP00000356745:p.Arg61His	NA	A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	37	CCDS1286.1	.	.	.	.	.	.	.	.	.	.	C	32	5.170462	0.94768	.	.	ENSG00000000457	ENST00000367772;ENST00000367771;ENST00000367770;ENST00000423670	T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87	5.38	5.38	0.77491	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88840	0.6546	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90729	0.4641	9	.	.	.	-15.4784	19.0922	0.93231	0.0:1.0:0.0:0.0	.	61;61	Q8IZE3-2;Q8IZE3	.;PACE1_HUMAN	H	61	ENSP00000356746:R61H;ENSP00000356745:R61H;ENSP00000356744:R61H;ENSP00000407993:R61H	.	R	-	2	0	SCYL3	168114568	1.000000	0.71417	0.990000	0.47175	0.991000	0.79684	7.338000	0.79269	2.668000	0.90789	0.563000	0.77884	CGT	SCYL3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087548.4		-	ENST00000367771.6	Missense_Mutation	SNP	1 : 169847944 - 169847944 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	710	48
KCND3	3752	broad.mit.edu	37	1	112524699	112524699	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:112524699G>T	ENST00000369697.1	-	1	719	c.650C>A	c.(649-651)cCg>cAg	p.P217Q	KCND3_ENST00000302127.4_Missense_Mutation_p.P217Q|KCND3_ENST00000315987.2_Missense_Mutation_p.P217Q			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	217						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		CTCCCCGCACGGCAGCTCCTT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	29	28			NA	NA	1		NA											NA				112524699		2203	4300	6503	SO:0001583	missense			AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385	3752	3752		Potassium channels, Voltage-gated ion channels / Potassium channels	6239	protein-coding gene	gene with protein product		605411	spinocerebellar ataxia 22, spinocerebellar ataxia 19	SCA22, SCA19	NA	10942109, 16382104, 23280837	Standard	NM_172198	NM_172198	NA	Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000369697.1:c.650C>A	1.37:g.112524699G>T	ENSP00000358711:p.Pro217Gln	NA	O60576|O60577|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	37	CCDS844.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.090032	0.55968	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.96967	-4.18;-4.19;-4.18	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.93700	0.7987	M	0.64997	1.995	0.80722	D	1	B;B	0.29590	0.25;0.25	B;B	0.26614	0.071;0.071	D	0.92464	0.5980	10	0.52906	T	0.07	.	18.9981	0.92821	0.0:0.0:1.0:0.0	.	217;217	Q14D71;Q9UK17	.;KCND3_HUMAN	Q	217	ENSP00000358711:P217Q;ENSP00000319591:P217Q;ENSP00000306923:P217Q	ENSP00000306923:P217Q	P	-	2	0	KCND3	112326222	1.000000	0.71417	0.992000	0.48379	0.989000	0.77384	9.869000	0.99810	2.590000	0.87494	0.563000	0.77884	CCG	KCND3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033145.1		-	ENST00000369697.1	Missense_Mutation	SNP	1 : 112524699 - 112524699 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	248	43
RRBP1	6238	broad.mit.edu	37	20	17610570	17610570	+	Missense_Mutation	SNP	G	G	A	rs147114989		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:17610570G>A	ENST00000377813.1	-	9	2950	c.2647C>T	c.(2647-2649)Cgc>Tgc	p.R883C	RRBP1_ENST00000377807.2_Missense_Mutation_p.R450C|RRBP1_ENST00000246043.4_Missense_Mutation_p.R883C|RRBP1_ENST00000455029.2_Missense_Mutation_p.R224C|RRBP1_ENST00000360807.4_Missense_Mutation_p.R450C			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	883					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TCGTCCAGGCGCTTCTGCAGG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/ARG,CYS/ARG	0,4404		0,0,2202	22	23	23		1348,1348	2.2	1	20	dbSNP_134	23	1,8597		0,1,4298	no	missense,missense	RRBP1	NM_001042576.1,NM_004587.2	180,180	0,1,6500	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging	450/978,450/978	17610570	1,13001	2202	4299	6501	SO:0001583	missense			AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844	6238	6238			10448	protein-coding gene	gene with protein product		601418	ribosome binding protein 1 (dog 180kD homolog), ribosome binding protein 1 homolog 180kDa (dog)		NA	8812507	Standard	NM_001042576	NM_001042576	NA	Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.2647C>T	20.37:g.17610570G>A	ENSP00000367044:p.Arg883Cys	NA	A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	37		.	.	.	.	.	.	.	.	.	.	G	16.90	3.251294	0.59212	0.0	1.16E-4	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	4.38	2.15	0.27550	.	0.000000	0.35936	N	0.002888	T	0.54382	0.1855	L	0.59436	1.845	0.58432	D	0.999991	D	0.89917	1.0	D	0.74674	0.984	T	0.55655	-0.8107	10	0.72032	D	0.01	-12.8453	8.4086	0.32629	0.0:0.1263:0.5658:0.3079	.	450	Q9P2E9-3	.	C	450;883;450;883;224	ENSP00000354045:R450C;ENSP00000367044:R883C;ENSP00000367038:R450C;ENSP00000246043:R883C;ENSP00000401206:R224C	ENSP00000246043:R883C	R	-	1	0	RRBP1	17558570	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	1.668000	0.37481	1.111000	0.41721	0.561000	0.74099	CGC	RRBP1-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000078125.1		-	ENST00000377813.1	Missense_Mutation	SNP	20 : 17610570 - 17610570 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	159	37
AP4B1	10717	broad.mit.edu	37	1	114443916	114443916	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114443916G>A	ENST00000369569.1	-	4	839	c.559C>T	c.(559-561)Ctg>Ttg	p.L187L	AP4B1_ENST00000369566.3_Intron|AP4B1_ENST00000256658.4_Silent_p.L187L|AP4B1_ENST00000369567.1_Intron	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	187					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTGTTTCAGAATTTCCTCT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	103	104			NA	NA	1		NA											NA				114443916		2203	4300	6503	SO:0001819	synonymous_variant			AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262	10717	10717			572	protein-coding gene	gene with protein product	beta 4 subunit of AP-4	607245	spastic paraplegia 47	SPG47	NA	10066790	Standard	NM_006594	NM_006594	NA	Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.559C>T	1.37:g.114443916G>A		NA	Q59EJ4|Q96CL6	37	CCDS865.1																																																																																			AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033037.1		-	ENST00000369569.1	Silent	SNP	1 : 114443916 - 114443916 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	484	98
GALNT6	11226	broad.mit.edu	37	12	51752996	51752996	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51752996G>A	ENST00000543196.2	-	7	1493	c.1288C>T	c.(1288-1290)Cgc>Tgc	p.R430C	GALNT6_ENST00000356317.3_Missense_Mutation_p.R430C			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	430					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCTGCCAGGCGCACTTGATTG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	174	172			NA	NA	12		NA											NA				51752996		2203	4300	6503	SO:0001583	missense			Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629	11226	11226		Glycosyltransferase family 2 domain containing	4128	protein-coding gene	gene with protein product	polypeptide GalNAc transferase 6	605148	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)		NA	10464263	Standard	NM_007210	NM_007210	NA	Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.1288C>T	12.37:g.51752996G>A	ENSP00000444171:p.Arg430Cys	NA	Q8IYH4|Q9H6G2|Q9UIV5	37	CCDS8813.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814279	0.90790	.	.	ENSG00000139629	ENST00000543196;ENST00000356317;ENST00000546163	T;T	0.71103	-0.54;-0.54	4.26	4.26	0.50523	.	0.000000	0.85682	D	0.000000	D	0.90549	0.7038	H	0.98738	4.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94155	0.7409	10	0.87932	D	0	.	16.6531	0.85222	0.0:0.0:1.0:0.0	.	430	Q8NCL4	GALT6_HUMAN	C	430;430;411	ENSP00000444171:R430C;ENSP00000348668:R430C	ENSP00000348668:R430C	R	-	1	0	GALNT6	50039263	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.638000	0.83328	2.661000	0.90470	0.561000	0.74099	CGC	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000469735.1		-	ENST00000543196.2	Missense_Mutation	SNP	12 : 51752996 - 51752996 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1536	169
BRF1	2972	broad.mit.edu	37	14	105677562	105677562	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105677562G>A	ENST00000546474.1	-	17	16852	c.1893C>T	c.(1891-1893)agC>agT	p.S631S	BRF1_ENST00000379937.2_Silent_p.S604S|BRF1_ENST00000547530.1_Silent_p.S157S|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000446501.2_Silent_p.S393S|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000392557.4_Silent_p.S427S|BRF1_ENST00000440513.3_Silent_p.S538S|BRF1_ENST00000327359.3_Silent_p.S516S	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	631					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		ACACGGGCCCGCTCTCCACCA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	44	44			NA	NA	14		NA											NA				105677562		2202	4299	6501	SO:0001819	synonymous_variant			U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024	2972	2972		General transcription factors	11551	protein-coding gene	gene with protein product		604902	TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2, BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)	TAF3B2, TAF3C, GTF3B	NA	7624363, 8943358	Standard	NM_001519	NM_145685	NA	Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.1893C>T	14.37:g.105677562G>A		NA	Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q9HCW6|Q9HCW7|Q9HCW8	37	CCDS10001.1																																																																																			BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000074548.4		-	ENST00000546474.1	Silent	SNP	14 : 105677562 - 105677562 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	90
PACSIN1	29993	broad.mit.edu	37	6	34497247	34497247	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34497247G>T	ENST00000538621.1	+	5	775	c.530G>T	c.(529-531)aGc>aTc	p.S177I	PACSIN1_ENST00000486120.1_3'UTR|PACSIN1_ENST00000244458.2_Missense_Mutation_p.S177I|PACSIN1_ENST00000374043.2_Missense_Mutation_p.S135I	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	177					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GAGATGAACAGCAAGACGGAG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	102	108			NA	NA	6		NA											NA				34497247		2203	4300	6503	SO:0001583	missense			AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507	NA	29993			8570	protein-coding gene	gene with protein product	syndapin I	606512			NA	11179684	Standard		NM_020804	NA	Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.530G>T	6.37:g.34497247G>T	ENSP00000439639:p.Ser177Ile	NA	Q9P2G8	37	CCDS4793.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.853724	0.51270	.	.	ENSG00000124507	ENST00000244458;ENST00000374043;ENST00000436831;ENST00000538621	T;T;T	0.42513	0.97;2.54;0.97	3.83	3.83	0.44106	.	0.244310	0.43919	D	0.000517	T	0.32071	0.0817	M	0.69823	2.125	0.53005	D	0.999966	B	0.17852	0.024	B	0.16722	0.016	T	0.42699	-0.9436	10	0.62326	D	0.03	-11.3885	15.9069	0.79436	0.0:0.0:1.0:0.0	.	177	Q9BY11	PACN1_HUMAN	I	177;135;177;177	ENSP00000244458:S177I;ENSP00000363155:S135I;ENSP00000439639:S177I	ENSP00000244458:S177I	S	+	2	0	PACSIN1	34605225	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.590000	0.82653	2.127000	0.65507	0.557000	0.71058	AGC	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040236.1		+	ENST00000538621.1	Missense_Mutation	SNP	6 : 34497247 - 34497247 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	336	26
CRK	1398	broad.mit.edu	37	17	1340290	1340290	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1340290G>A	ENST00000300574.2	-	2	541	c.401C>T	c.(400-402)gCg>gTg	p.A134V	CRK_ENST00000398970.5_Missense_Mutation_p.A134V|CRK_ENST00000572145.1_5'UTR|CRK_ENST00000574295.1_Splice_Site	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog	134	SH3 1.				actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter	cytosol|endosome|nucleus|plasma membrane	protein binding|SH2 domain binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		CACATACTCCGCCTCCTCCTG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	103	105			NA	NA	17		NA											NA				1340290		2203	4300	6503	SO:0001583	missense			D10656	CCDS11002.1, CCDS45561.1	17p13	2013-07-09	2013-07-09		ENSG00000167193	ENSG00000167193	1398	1398		SH2 domain containing	2362	protein-coding gene	gene with protein product		164762			NA	1690891	Standard	NM_016823	NM_005206	NA	Approved		uc002fsl.3	P46108	OTTHUMG00000090317	ENST00000300574.2:c.401C>T	17.37:g.1340290G>A	ENSP00000300574:p.Ala134Val	NA	A8MWE8|B0LPE8|D3DTH6|Q96GA9|Q96HJ0	37	CCDS11002.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813633	0.50527	.	.	ENSG00000167193	ENST00000300574;ENST00000398970	T;T	0.40476	2.05;1.03	5.73	4.77	0.60923	Src homology-3 domain (2);	0.486247	0.24130	N	0.041279	T	0.21631	0.0521	N	0.10733	0.035	0.80722	D	1	B;B	0.11235	0.004;0.0	B;B	0.06405	0.002;0.001	T	0.06607	-1.0817	10	0.26408	T	0.33	-10.8069	9.0027	0.36092	0.166:0.0:0.834:0.0	.	134;134	P46108-2;P46108	.;CRK_HUMAN	V	134	ENSP00000300574:A134V;ENSP00000381942:A134V	ENSP00000300574:A134V	A	-	2	0	CRK	1287040	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	2.324000	0.43831	1.571000	0.49722	0.655000	0.94253	GCG	CRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206679.1		-	ENST00000300574.2	Missense_Mutation	SNP	17 : 1340290 - 1340290 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	654	146
CHRM2	1129	broad.mit.edu	37	7	136700899	136700899	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:136700899T>C	ENST00000445907.2	+	3	1815	c.1287T>C	c.(1285-1287)tgT>tgC	p.C429C	CHRM2_ENST00000453373.1_Silent_p.C429C|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000402486.3_Silent_p.C429C|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000320658.5_Silent_p.C429C|CHRM2_ENST00000401861.1_Silent_p.C429C|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Silent_p.C429C	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	429					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	ACTGGCTTTGTTACATCAACA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													263	218	233			NA	NA	7		NA											NA				136700899		2203	4300	6503	SO:0001819	synonymous_variant				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072	1129	1129		Cholinergic receptors, GPCR / Class A : Cholinergic receptors, muscarinic	1951	protein-coding gene	gene with protein product	acetylcholine receptor, muscarinic 2	118493			NA		Standard		NM_000739	NA	Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.1287T>C	7.37:g.136700899T>C		NA	Q4VBK6|Q9P1X9	37	CCDS5843.1																																																																																			CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341010.1		+	ENST00000445907.2	Silent	SNP	7 : 136700899 - 136700899 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	699	126
SH2D3A	10045	broad.mit.edu	37	19	6760689	6760689	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6760689C>A	ENST00000245908.6	-	3	648	c.379G>T	c.(379-381)Gac>Tac	p.D127Y	SH2D3A_ENST00000437152.3_Intron|SH2D3A_ENST00000599563.1_5'UTR	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	127					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						ATCAGGGTGTCCTCGCTAAAG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	38	39			NA	NA	19		NA											NA				6760689		2203	4300	6503	SO:0001583	missense			AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731	10045	10045		SH2 domain containing	16885	protein-coding gene	gene with protein product		604721	SH2 domain-containing 3A		NA	10187783	Standard	NM_005490	NM_005490	NA	Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.379G>T	19.37:g.6760689C>A	ENSP00000245908:p.Asp127Tyr	NA	A8K9R6|Q9Y2X4	37	CCDS12173.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.384192	0.25031	.	.	ENSG00000125731	ENST00000245908	T	0.16597	2.33	4.91	4.91	0.64330	.	0.151862	0.30126	N	0.010344	T	0.28200	0.0696	L	0.60455	1.87	0.80722	D	1	D	0.71674	0.998	P	0.60789	0.879	T	0.05550	-1.0878	10	0.02654	T	1	-19.2134	13.6482	0.62294	0.0:1.0:0.0:0.0	.	127	Q9BRG2	SH23A_HUMAN	Y	127	ENSP00000245908:D127Y	ENSP00000245908:D127Y	D	-	1	0	SH2D3A	6711689	0.899000	0.30636	0.998000	0.56505	0.559000	0.35586	2.484000	0.45242	2.598000	0.87819	0.549000	0.68633	GAC	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458016.1		-	ENST00000245908.6	Missense_Mutation	SNP	19 : 6760689 - 6760689 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	146	29
SEC31A	22872	broad.mit.edu	37	4	83793159	83793159	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83793159C>T	ENST00000395310.2	-	7	902	c.720G>A	c.(718-720)gtG>gtA	p.V240V	SEC31A_ENST00000348405.4_Silent_p.V240V|SEC31A_ENST00000500777.2_Silent_p.V240V|SEC31A_ENST00000432794.1_Silent_p.V240V|SEC31A_ENST00000509142.1_Silent_p.V240V|SEC31A_ENST00000513858.1_Silent_p.V240V|SEC31A_ENST00000443462.2_Silent_p.V235V|SEC31A_ENST00000448323.1_Silent_p.V240V|SEC31A_ENST00000505984.1_Silent_p.V240V|SEC31A_ENST00000355196.2_Silent_p.V240V|SEC31A_ENST00000508502.1_Silent_p.V240V|SEC31A_ENST00000508479.1_Silent_p.V240V|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000326950.5_Silent_p.V240V|SEC31A_ENST00000505472.1_Silent_p.V240V|SEC31A_ENST00000311785.7_Silent_p.V240V	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	240	Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				ACATCTGGATCACTGGTAACC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	94	104			NA	NA	4		NA											NA				83793159		2203	4300	6503	SO:0001819	synonymous_variant			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674	22872	22872		WD repeat domain containing	17052	protein-coding gene	gene with protein product		610257	SEC31-like 1 (S. cerevisiae), Sec31 homolog A (S. cerevisiae)	SEC31L1	NA	10048485, 10788476	Standard	NM_016211	NM_001077206	NA	Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.720G>A	4.37:g.83793159C>T		NA	B7ZKZ7|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	37	CCDS3596.1																																																																																			SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252640.1		-	ENST00000395310.2	Silent	SNP	4 : 83793159 - 83793159 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	284	63
SLC4A11	83959	broad.mit.edu	37	20	3209045	3209045	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3209045C>A	ENST00000380059.3	-	19	2648	c.2547G>T	c.(2545-2547)cgG>cgT	p.R849R	SLC4A11_ENST00000380056.3_Silent_p.R822R|SLC4A11_ENST00000539553.2_Silent_p.R806R	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	822	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GGGGCACCCTCCGGATGTAGT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(190;922 2139 10266 10292 38692)							NA				0													112	106	108			NA	NA	20		NA											NA				3209045		2203	4300	6503	SO:0001819	synonymous_variant			AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836	83959	83959		Solute carriers	16438	protein-coding gene	gene with protein product		610206	corneal endothelial dystrophy 2 (autosomal recessive), solute carrier family 4, sodium bicarbonate transporter-like, member 11, corneal dystrophy and perceptive deafness 1	CHED2, CDPD1	NA	10843999, 11302728, 16767101	Standard		NM_001174089	NA	Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380059.3:c.2547G>T	20.37:g.3209045C>A		NA	Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	37	CCDS54445.1																																																																																			SLC4A11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077727.2		-	ENST00000380059.3	Silent	SNP	20 : 3209045 - 3209045 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	774	121
KDM2A	22992	broad.mit.edu	37	11	67018039	67018039	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67018039G>A	ENST00000529006.2	+	17	2984	c.2538G>A	c.(2536-2538)caG>caA	p.Q846Q	KDM2A_ENST00000308783.5_Silent_p.Q304Q|KDM2A_ENST00000530342.1_Silent_p.Q407Q|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Intron	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	846					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						GAACCCCCCAGCGTGGggatg	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	21	20			NA	NA	11		NA											NA				67018039		1965	4145	6110	SO:0001819	synonymous_variant			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120	22992	22992		F-boxes / Leucine-rich repeats, Chromatin-modifying enzymes / K-demethylases	13606	protein-coding gene	gene with protein product	F-box protein FBL11, jumonji C domain-containing histone demethylase 1A	605657	F-box and leucine-rich repeat protein 11	FBXL11	NA	10231032, 10531037	Standard	NM_012308	NM_012308	NA	Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.2538G>A	11.37:g.67018039G>A		NA	Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	37	CCDS44657.1																																																																																			KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393140.2		+	ENST00000529006.2	Silent	SNP	11 : 67018039 - 67018039 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	197	35
CPXCR1	53336	broad.mit.edu	37	X	88008738	88008738	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:88008738A>C	ENST00000276127.4	+	3	582	c.323A>C	c.(322-324)gAt>gCt	p.D108A	CPXCR1_ENST00000373111.1_Missense_Mutation_p.D108A	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	108						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						CCCTTAAATGATAGATCAAGA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	35	37			NA	NA	X		NA											NA				88008738		2203	4300	6503	SO:0001583	missense			AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183	53336	53336			2332	protein-coding gene	gene with protein product	cancer/testis antigen 77				NA	11499681	Standard	NM_033048	NM_033048	NA	Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.323A>C	X.37:g.88008738A>C	ENSP00000276127:p.Asp108Ala	NA	B2R9F9|D3DTE7|Q96RS3	37	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	A	13.01	2.109664	0.37242	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.38240	1.15;1.15	2.97	2.97	0.34412	.	0.445051	0.16599	N	0.207428	T	0.23532	0.0569	N	0.24115	0.695	0.09310	N	1	P	0.46784	0.884	B	0.43103	0.408	T	0.04664	-1.0935	9	.	.	.	-5.2427	6.8618	0.24072	1.0:0.0:0.0:0.0	.	108	Q8N123	CPXCR_HUMAN	A	108	ENSP00000276127:D108A;ENSP00000362203:D108A	.	D	+	2	0	CPXCR1	87895394	0.002000	0.14202	0.002000	0.10522	0.016000	0.09150	2.016000	0.40971	1.423000	0.47198	0.481000	0.45027	GAT	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057418.1		+	ENST00000276127.4	Missense_Mutation	SNP	X : 88008738 - 88008738 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	118	36
CABIN1	23523	broad.mit.edu	37	22	24509677	24509677	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24509677C>T	ENST00000405822.2	+	26	4119	c.4025C>T	c.(4024-4026)gCg>gTg	p.A1342V	CABIN1_ENST00000263119.5_Missense_Mutation_p.A1421V|CABIN1_ENST00000398319.2_Missense_Mutation_p.A1421V			Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1421					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CAAGCAGGAGCGACGGGTAAA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	82	81			NA	NA	22		NA											NA				24509677		2203	4300	6503	SO:0001583	missense			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991	23523	23523			24187	protein-coding gene	gene with protein product		604251			NA	9655484, 9205841	Standard	NM_012295	NM_001199281	NA	Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000405822.2:c.4025C>T	22.37:g.24509677C>T	ENSP00000384694:p.Ala1342Val	NA	Q9Y460	37		.	.	.	.	.	.	.	.	.	.	C	4.393	0.072617	0.08436	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.63580	0.17;-0.05;0.17	4.44	-7.85	0.01192	.	1.488080	0.03540	N	0.223755	T	0.35885	0.0947	N	0.14661	0.345	0.09310	N	1	B;B	0.23058	0.079;0.048	B;B	0.15870	0.014;0.006	T	0.41431	-0.9509	10	0.06236	T	0.91	.	9.8865	0.41264	0.0:0.1883:0.1182:0.6935	.	1342;1421	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	V	1421;1342;1421	ENSP00000263119:A1421V;ENSP00000384694:A1342V;ENSP00000381364:A1421V	ENSP00000263119:A1421V	A	+	2	0	CABIN1	22839677	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.152000	0.16302	-1.329000	0.02258	-1.867000	0.00556	GCG	CABIN1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000320162.2		+	ENST00000405822.2	Missense_Mutation	SNP	22 : 24509677 - 24509677 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	619	103
C1QBP	708	broad.mit.edu	37	17	5336648	5336648	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5336648T>C	ENST00000574444.1	-	5	501	c.352A>G	c.(352-354)Act>Gct	p.T118A	C1QBP_ENST00000225698.4_Missense_Mutation_p.T222A			Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding protein	222					blood coagulation, intrinsic pathway|immune response|interspecies interaction between organisms	mitochondrial matrix|nucleus|plasma membrane				lung(2)|ovary(1)	3						GTATAATTAGTATCCTTCCAT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	101	102			NA	NA	17		NA											NA				5336648		2203	4300	6503	SO:0001583	missense			X75913	CCDS11071.1	17p13.3	2009-05-07				ENSG00000108561	708	708			1243	protein-coding gene	gene with protein product	C1q globular domain-binding protein, hyaluronan-binding protein 1, splicing factor SF2-associated protein	601269		HABP1	NA	8567680, 8195709	Standard	NM_001212	NM_001212	NA	Approved	gC1Q-R, gC1qR, p32, SF2p32	uc002gby.1	Q07021		ENST00000574444.1:c.352A>G	17.37:g.5336648T>C	ENSP00000460308:p.Thr118Ala	NA	Q2HXR8|Q9NNY8	37		.	.	.	.	.	.	.	.	.	.	T	16.56	3.158060	0.57368	.	.	ENSG00000108561	ENST00000225698	.	.	.	5.11	5.11	0.69529	.	0.047581	0.85682	D	0.000000	T	0.60483	0.2272	L	0.59436	1.845	0.53688	D	0.999971	B	0.29232	0.238	B	0.31245	0.126	T	0.62732	-0.6792	9	0.54805	T	0.06	-8.1776	14.2178	0.65805	0.0:0.0:0.0:1.0	.	222	Q07021	C1QBP_HUMAN	A	222	.	ENSP00000225698:T222A	T	-	1	0	C1QBP	5277372	1.000000	0.71417	0.987000	0.45799	0.886000	0.51366	7.741000	0.84997	2.144000	0.66660	0.533000	0.62120	ACT	C1QBP-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000439389.1		-	ENST00000574444.1	Missense_Mutation	SNP	17 : 5336648 - 5336648 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	470	107
CHTF18	63922	broad.mit.edu	37	16	839554	839554	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:839554G>T	ENST00000455171.2	+	3	590	c.529G>T	c.(529-531)Gaa>Taa	p.E177*	CHTF18_ENST00000262315.9_Nonsense_Mutation_p.E149*|CHTF18_ENST00000317063.6_Nonsense_Mutation_p.E346*|CHTF18_ENST00000491530.1_3'UTR			Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	149					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CAGAGTCTCAGAAGCTGCTGC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	48	45			NA	NA	16		NA											NA				839554		2050	4184	6234	SO:0001587	stop_gained			BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586	63922	63922		ATPases / AAA-type	18435	protein-coding gene	gene with protein product		613201	chromosome 16 open reading frame 41	C16orf41	NA	12171929	Standard	NM_022092	NM_022092	NA	Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000455171.2:c.529G>T	16.37:g.839554G>T	ENSP00000406252:p.Glu177*	NA	B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.32|18.32	3.599175|3.599175	0.66332|0.66332	.|.	.|.	ENSG00000127586|ENSG00000127586	ENST00000317063;ENST00000455171;ENST00000262315|ENST00000426047	.|.	.|.	.|.	4.17|4.17	3.21|3.21	0.36854|0.36854	.|.	1.724250|.	0.02839|.	N|.	0.127711|.	.|T	.|0.41259	.|0.1151	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.50013	.|-0.8877	.|3	0.06365|.	T|.	0.9|.	-14.3195|-14.3195	6.4388|6.4388	0.21839|0.21839	0.2197:0.0:0.7803:0.0|0.2197:0.0:0.7803:0.0	.|.	.|.	.|.	.|.	X|I	346;177;149|19	.|.	ENSP00000262315:E149X|.	E|R	+|+	1|2	0|0	CHTF18|CHTF18	779555|779555	0.022000|0.022000	0.18835|0.18835	0.009000|0.009000	0.14445|0.14445	0.002000|0.002000	0.02628|0.02628	0.817000|0.817000	0.27281|0.27281	1.093000|1.093000	0.41377|0.41377	0.549000|0.549000	0.68633|0.68633	GAA|AGA	CHTF18-006	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000341047.2		+	ENST00000455171.2	Nonsense_Mutation	SNP	16 : 839554 - 839554 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	474	83
MOV10L1	54456	broad.mit.edu	37	22	50552182	50552182	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50552182G>T	ENST00000262794.5	+	6	932	c.849G>T	c.(847-849)aaG>aaT	p.K283N	MOV10L1_ENST00000540615.1_Missense_Mutation_p.K263N|MOV10L1_ENST00000545383.1_Missense_Mutation_p.K283N|MOV10L1_ENST00000395858.3_Missense_Mutation_p.K283N|MOV10L1_ENST00000395843.1_5'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	283					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GAACCCTAAAGGAAGGAAGAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	109	112			NA	NA	22		NA											NA				50552182		2203	4300	6503	SO:0001583	missense			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146	54456	54456			7201	protein-coding gene	gene with protein product	cardiac helicase activated by MEF2C protein	605794	Mov10 (mouse)-like 1, Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)		NA	11279525	Standard	NM_018995	NM_018995	NA	Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.849G>T	22.37:g.50552182G>T	ENSP00000262794:p.Lys283Asn	NA	B7WPP1|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	37	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886462	0.51908	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;D;D	0.86497	-1.94;-1.94;-1.53;-2.13	6.17	-3.19	0.05171	.	0.235942	0.50627	N	0.000118	D	0.83216	0.5206	M	0.64997	1.995	0.45791	D	0.99867	D;P;P;P	0.55800	0.973;0.682;0.907;0.948	P;B;B;B	0.51742	0.678;0.376;0.303;0.303	T	0.76361	-0.2987	10	0.26408	T	0.33	-14.8035	2.8453	0.05541	0.5148:0.1095:0.2674:0.1084	.	44;263;283;283	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	N	283;283;283;263	ENSP00000438978:K283N;ENSP00000262794:K283N;ENSP00000379199:K283N;ENSP00000438542:K263N	ENSP00000262794:K283N	K	+	3	2	MOV10L1	48894309	0.184000	0.23200	0.023000	0.16930	0.530000	0.34684	0.109000	0.15417	-0.827000	0.04278	0.655000	0.94253	AAG	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075009.2		+	ENST00000262794.5	Missense_Mutation	SNP	22 : 50552182 - 50552182 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	432	89
SYNM	23336	broad.mit.edu	37	15	99670348	99670348	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99670348G>A	ENST00000560674.1	+	4	1394	c.925G>A	c.(925-927)Ggt>Agt	p.G309S	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Missense_Mutation_p.G594S|SYNM_ENST00000336292.6_Missense_Mutation_p.G594S			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	595	Interaction with DMD and UTRN.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GTCCCCGAAAGGTTTGCAGAC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(125;1071 1762 21750 40003 40381)							NA				0													71	72	72			NA	NA	15		NA											NA				99670348		2005	4177	6182	SO:0001583	missense			AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253	23336	23336		A-kinase anchor proteins, Intermediate filaments type IV	24466	protein-coding gene	gene with protein product	synemin alpha, synemin beta	606087	desmuslin	DMN	NA	11737198, 11454237	Standard	NM_145728	NM_145728	NA	Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.925G>A	15.37:g.99670348G>A	ENSP00000453040:p.Gly309Ser	NA	A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	37		.	.	.	.	.	.	.	.	.	.	G	12.06	1.823962	0.32237	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	T;T	0.30981	1.51;1.51	5.76	1.73	0.24493	.	.	.	.	.	T	0.18130	0.0435	.	.	.	0.09310	N	1	B;B	0.26318	0.144;0.146	B;B	0.22152	0.032;0.038	T	0.21348	-1.0248	8	0.31617	T	0.26	.	5.3931	0.16255	0.2965:0.1425:0.5611:0.0	.	595;594	O15061;C9JIE4	SYNEM_HUMAN;.	S	594	ENSP00000336775:G594S;ENSP00000330469:G594S	ENSP00000330469:G594S	G	+	1	0	SYNM	97487871	0.001000	0.12720	0.000000	0.03702	0.055000	0.15305	0.596000	0.24044	0.341000	0.23771	0.655000	0.94253	GGT	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000415698.2		+	ENST00000560674.1	Missense_Mutation	SNP	15 : 99670348 - 99670348 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	380	57
SLC26A3	1811	broad.mit.edu	37	7	107416898	107416898	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107416898G>T	ENST00000340010.5	-	15	1860	c.1676C>A	c.(1675-1677)gCt>gAt	p.A559D	SLC26A3_ENST00000422236.2_Splice_Site_p.A524D	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	559	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.A559V(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						AAACCTTACAGCATCGATAAG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	central_nervous_system(1)											104	101	102			NA	NA	7		NA											NA				107416898		2203	4300	6503	SO:0001630	splice_region_variant			L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138	1811	1811		Solute carriers	3018	protein-coding gene	gene with protein product		126650	congenital chloride diarrhea, solute carrier family 26, member 3	DRA, CLD	NA	8020951, 11087667	Standard	NM_000111	NM_000111	NA	Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1677+1C>A	7.37:g.107416898G>T		NA		37	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938086	0.73557	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.89123	-2.47;-2.47	5.98	5.11	0.69529	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.255061	0.44902	D	0.000418	D	0.90800	0.7111	M	0.79475	2.455	0.80722	D	1	P;P	0.50443	0.935;0.919	P;P	0.49953	0.627;0.616	D	0.89021	0.3435	10	0.17832	T	0.49	.	15.0089	0.71533	0.0679:0.0:0.9321:0.0	.	524;559	G5E9U3;P40879	.;S26A3_HUMAN	D	524;559	ENSP00000415817:A524D;ENSP00000345873:A559D	ENSP00000345873:A559D	A	-	2	0	SLC26A3	107204134	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.402000	0.79972	1.550000	0.49438	0.591000	0.81541	GCT	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337190.1	Missense_Mutation	-	ENST00000340010.5	Splice_Site	SNP	7 : 107416898 - 107416898 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	343	48
UBA6	55236	broad.mit.edu	37	4	68501275	68501275	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68501275G>A	ENST00000322244.5	-	20	1797	c.1738C>T	c.(1738-1740)Cgt>Tgt	p.R580C		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	NA					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						GCTAAGCAACGACTATTTGAA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/ARG	0,4406		0,0,2203	85	79	81		1738	5.1	1	4		81	1,8599		0,1,4299	no	missense-near-splice	UBA6	NM_018227.5	180	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	580/1053	68501275	1,13005	2203	4300	6503	SO:0001630	splice_region_variant			AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178	55236	55236		Ubiquitin-like modifier activating enzymes	25581	protein-coding gene	gene with protein product	UBA6, ubiquitin-activating enzyme E1	611361	ubiquitin-activating enzyme E1-like 2	UBE1L2	NA	17580310	Standard	NM_018227	NM_018227	NA	Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.1737-1C>T	4.37:g.68501275G>A		NA	A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	37	CCDS3516.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558085	0.86231	0.0	1.16E-4	ENSG00000033178	ENST00000322244	T	0.44881	0.91	5.11	5.11	0.69529	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.058855	0.64402	D	0.000002	T	0.65407	0.2688	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.68864	-0.5296	10	0.66056	D	0.02	-19.9923	18.538	0.91018	0.0:0.0:1.0:0.0	.	580	A0AVT1	UBA6_HUMAN	C	580	ENSP00000313454:R580C	ENSP00000313454:R580C	R	-	1	0	UBA6	68183870	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.194000	0.94962	2.379000	0.81126	0.460000	0.39030	CGT	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251429.2	Missense_Mutation	-	ENST00000322244.5	Splice_Site	SNP	4 : 68501275 - 68501275 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	287	11
GABBR2	9568	broad.mit.edu	37	9	101340265	101340265	+	Silent	SNP	G	G	A	rs56067237		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101340265G>A	ENST00000259455.2	-	2	870	c.411C>T	c.(409-411)tcC>tcT	p.S137S		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	137					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TGGATGTGACGGATGGACAGA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0										0,4406		0,0,2203	210	195	200		411	-9.2	0.6	9	dbSNP_129	200	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GABBR2	NM_005458.7		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		137/942	101340265	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928	9568	9568		GABA receptors, GPCR / Class C : GABA(B) receptors	4507	protein-coding gene	gene with protein product		607340	G protein-coupled receptor 51	GPR51	NA	10087195	Standard		NM_005458	NA	Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.411C>T	9.37:g.101340265G>A		NA	O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	37	CCDS6736.1																																																																																			GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053373.1		-	ENST00000259455.2	Silent	SNP	9 : 101340265 - 101340265 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	328	57
KLHL18	23276	broad.mit.edu	37	3	47371497	47371497	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47371497C>T	ENST00000232766.5	+	4	478	c.458C>T	c.(457-459)gCt>gTt	p.A153V	KLHL18_ENST00000455924.2_Missense_Mutation_p.A41V	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	153	BACK.									endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		ATGATGTGTGCTGTGCTGTAC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	120	121			NA	NA	3		NA											NA				47371497		2203	4300	6503	SO:0001583	missense			AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648	23276	23276		Kelch-like, BTB/POZ domain containing	29120	protein-coding gene	gene with protein product			kelch-like 18 (Drosophila)		NA	9872452	Standard	NM_025010	NM_025010	NA	Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.458C>T	3.37:g.47371497C>T	ENSP00000232766:p.Ala153Val	NA	A8K612|Q7Z3E8|Q8N125	37	CCDS33749.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333086	0.60853	.	.	ENSG00000114648	ENST00000232766;ENST00000455924	T;T	0.69040	-0.37;-0.37	4.94	4.94	0.65067	BTB/Kelch-associated (2);	0.059222	0.64402	D	0.000002	T	0.46054	0.1373	N	0.16066	0.365	0.58432	D	0.999997	P;B;B	0.40534	0.72;0.012;0.137	B;B;B	0.35182	0.197;0.02;0.058	T	0.47598	-0.9105	10	0.09590	T	0.72	.	16.8983	0.86106	0.0:1.0:0.0:0.0	.	4;153;88	Q647K1;O94889;O94889-2	.;KLH18_HUMAN;.	V	153;41	ENSP00000232766:A153V;ENSP00000405585:A41V	ENSP00000232766:A153V	A	+	2	0	KLHL18	47346501	1.000000	0.71417	0.912000	0.35992	0.993000	0.82548	7.416000	0.80143	2.579000	0.87056	0.467000	0.42956	GCT	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344493.1		+	ENST00000232766.5	Missense_Mutation	SNP	3 : 47371497 - 47371497 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	614	40
ADIPOR1	51094	broad.mit.edu	37	1	202912992	202912992	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202912992C>A	ENST00000340990.5	-	6	997	c.699G>T	c.(697-699)caG>caT	p.Q233H	ADIPOR1_ENST00000367254.3_Splice_Site|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.Q233H	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	233					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			TGAGCCGTGGCTGTGGGGAGC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	63	65			NA	NA	1		NA											NA				202912992		2203	4300	6503	SO:0001583	missense				CCDS1430.1	1q32.1	2012-08-22			ENSG00000159346	ENSG00000159346	51094	51094		GPCR / Unclassified : Adiponectin receptors	24040	protein-coding gene	gene with protein product		607945			NA	12802337	Standard	NM_015999	XM_006711360	NA	Approved	PAQR1, ACDCR1	uc001gyq.5	Q96A54	OTTHUMG00000041391	ENST00000340990.5:c.699G>T	1.37:g.202912992C>A	ENSP00000341785:p.Gln233His	NA	B3KMB0|Q53HS7|Q53YY6|Q9Y360	37	CCDS1430.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.152560|4.152560	0.78001|0.78001	.|.	.|.	ENSG00000159346|ENSG00000159346	ENST00000367254|ENST00000340990;ENST00000436244;ENST00000417068	.|T;T;T	.|0.30448	.|1.53;1.53;1.53	5.99|5.99	4.99|4.99	0.66335|0.66335	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.25791	.|0.0628	L|L	0.41356|0.41356	1.27|1.27	0.80722|0.80722	D|D	1|1	.|B	.|0.25206	.|0.12	.|B	.|0.27715	.|0.082	.|T	.|0.04216	.|-1.0968	.|10	.|0.15066	.|T	.|0.55	.|.	13.5456|13.5456	0.61702|0.61702	0.0:0.9195:0.0:0.0805|0.0:0.9195:0.0:0.0805	.|.	.|233	.|Q96A54	.|ADR1_HUMAN	.|H	-1|233	.|ENSP00000341785:Q233H;ENSP00000395469:Q233H;ENSP00000402178:Q233H	.|ENSP00000341785:Q233H	.|Q	-|-	.|3	.|2	ADIPOR1|ADIPOR1	201179615|201179615	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.050000|4.050000	0.57404|0.57404	1.377000|1.377000	0.46286|0.46286	0.655000|0.655000	0.94253|0.94253	.|CAG	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000099160.2		-	ENST00000340990.5	Missense_Mutation	SNP	1 : 202912992 - 202912992 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	216	41
CRABP1	1381	broad.mit.edu	37	15	78640310	78640310	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78640310C>T	ENST00000299529.6	+	4	510	c.405C>T	c.(403-405)gtC>gtT	p.V135V		NM_004378.2	NP_004369.1	P29762	RABP1_HUMAN	cellular retinoic acid binding protein 1	135					multicellular organismal development|signal transduction	cytoplasm	retinal binding|retinol binding|transporter activity			breast(1)|lung(4)|skin(1)	6					Alitretinoin(DB00523)|Etretinate(DB00926)	GAATTTATGTCCGAGAGTGAA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(146;578 3231 38536)							NA				0													161	145	150			NA	NA	15		NA											NA				78640310		2196	4293	6489	SO:0001819	synonymous_variant				CCDS10301.1	15q24	2013-03-01	2001-11-28		ENSG00000166426	ENSG00000166426	1381	1381		Fatty acid binding protein family	2338	protein-coding gene	gene with protein product		180230	cellular retinoic acid-binding protein 1	RBP5	NA	9154115	Standard	NM_004378	NM_004378	NA	Approved	CRABP, CRABP-I, CRABPI	uc002bdp.2	P29762	OTTHUMG00000143862	ENST00000299529.6:c.405C>T	15.37:g.78640310C>T		NA	Q6IAY7|Q8WTV5	37	CCDS10301.1																																																																																			CRABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000290110.2		+	ENST00000299529.6	Silent	SNP	15 : 78640310 - 78640310 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	519	73
NUP160	23279	broad.mit.edu	37	11	47830003	47830003	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47830003A>G	ENST00000378460.2	-	18	2366	c.2320T>C	c.(2320-2322)Tac>Cac	p.Y774H	NUP160_ENST00000528071.1_Missense_Mutation_p.Y660H|NUP160_ENST00000530326.1_Missense_Mutation_p.Y660H	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	774					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TTAATGAGGTAATAAGATAAG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	94	98			NA	NA	11		NA											NA				47830003		2201	4298	6499	SO:0001583	missense			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066	23279	23279			18017	protein-coding gene	gene with protein product		607614	nucleoporin 160kD		NA	11684705	Standard	NM_015231	NM_015231	NA	Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.2320T>C	11.37:g.47830003A>G	ENSP00000367721:p.Tyr774His	NA	B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	37	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	A	14.47	2.543547	0.45280	.	.	ENSG00000030066	ENST00000378460;ENST00000530326;ENST00000528071	T;T;T	0.51071	1.31;0.74;0.72	5.93	1.11	0.20524	.	0.683244	0.15228	N	0.273568	T	0.29028	0.0721	N	0.20986	0.625	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.06752	-1.0809	10	0.17832	T	0.49	.	9.0481	0.36358	0.7124:0.0:0.2876:0.0	.	774	Q12769	NU160_HUMAN	H	774;660;660	ENSP00000367721:Y774H;ENSP00000433590:Y660H;ENSP00000432367:Y660H	ENSP00000367721:Y774H	Y	-	1	0	NUP160	47786579	0.971000	0.33674	0.663000	0.29738	0.978000	0.69477	2.055000	0.41345	-0.051000	0.13334	0.528000	0.53228	TAC	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390239.2		-	ENST00000378460.2	Missense_Mutation	SNP	11 : 47830003 - 47830003 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	361	62
ACACB	32	broad.mit.edu	37	12	109674992	109674992	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109674992G>A	ENST00000338432.7	+	34	4588	c.4469G>A	c.(4468-4470)cGt>cAt	p.R1490H	ACACB_ENST00000377848.3_Missense_Mutation_p.R1490H|ACACB_ENST00000543201.1_Missense_Mutation_p.R156H|ACACB_ENST00000377854.5_Missense_Mutation_p.R1420H			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1490					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CGCATTTACCGTCACTTGGAA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	149	127	135		4469	4.8	1	12		135	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ACACB	NM_001093.3	29	0,2,6501	AA,AG,GG	NA	0.0116,0.0227,0.0154	probably-damaging	1490/2459	109674992	2,13004	2203	4300	6503	SO:0001583	missense			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	32	32	6.4.1.2		85	protein-coding gene	gene with protein product	acetyl-CoA carboxylase 2	601557	acetyl-Coenzyme A carboxylase beta		NA	8670171	Standard	NM_001093	NM_001093	NA	Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.4469G>A	12.37:g.109674992G>A	ENSP00000341044:p.Arg1490His	NA	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	34	5.295524	0.95574	2.27E-4	1.16E-4	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	4.75	4.75	0.60458	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	D	0.94029	0.8087	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.95195	0.8311	10	0.87932	D	0	.	18.6363	0.91379	0.0:0.0:1.0:0.0	.	1490	O00763	ACACB_HUMAN	H	1490;1490;1420;721;156	ENSP00000341044:R1490H;ENSP00000367079:R1490H;ENSP00000367085:R1420H;ENSP00000444075:R156H	ENSP00000341044:R1490H	R	+	2	0	ACACB	108159375	1.000000	0.71417	0.985000	0.45067	0.919000	0.55068	9.798000	0.99111	2.586000	0.87340	0.555000	0.69702	CGT	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403077.1		+	ENST00000338432.7	Missense_Mutation	SNP	12 : 109674992 - 109674992 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	743	145
TMEM132A	54972	broad.mit.edu	37	11	60697983	60697983	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60697983A>G	ENST00000005286.4	+	5	1021	c.868A>G	c.(868-870)Atc>Gtc	p.I290V	TMEM132A_ENST00000453848.2_Splice_Site_p.I290V	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	290						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CTTCCCCAGGATCAAGGTGAA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	143	140			NA	NA	11		NA											NA				60697983		2203	4299	6502	SO:0001630	splice_region_variant			AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118	54972	54972			31092	protein-coding gene	gene with protein product			heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1	HSPA5BP1	NA	12514190, 10997877	Standard	NM_017870	NM_017870	NA	Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000005286.4:c.867-1A>G	11.37:g.60697983A>G		NA	Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	37	CCDS7997.1	.	.	.	.	.	.	.	.	.	.	A	4.923	0.171542	0.09391	.	.	ENSG00000006118	ENST00000544065;ENST00000453848;ENST00000005286	T;T;T	0.11821	2.74;2.99;2.99	5.4	5.4	0.78164	.	0.094640	0.46145	D	0.000307	T	0.11324	0.0276	N	0.24115	0.695	0.36711	D	0.88064	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.003	T	0.07520	-1.0768	10	0.87932	D	0	.	13.9837	0.64321	1.0:0.0:0.0:0.0	.	279;290;290	Q24JP5-3;Q24JP5;Q24JP5-2	.;T132A_HUMAN;.	V	28;290;290	ENSP00000442754:I28V;ENSP00000405823:I290V;ENSP00000005286:I290V	ENSP00000005286:I290V	I	+	1	0	TMEM132A	60454559	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	2.396000	0.44468	2.184000	0.69523	0.533000	0.62120	ATC	TMEM132A-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396353.1	Missense_Mutation	+	ENST00000005286.4	Splice_Site	SNP	11 : 60697983 - 60697983 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1671	126
NPC1	4864	broad.mit.edu	37	18	21121149	21121149	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21121149G>T	ENST00000269228.5	-	16	2951	c.2397C>A	c.(2395-2397)tgC>tgA	p.C799*	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Nonsense_Mutation_p.C481*	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	799					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CTCTGACACAGCAAAAGATGT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	91	91			NA	NA	18		NA											NA				21121149		2203	4300	6503	SO:0001587	stop_gained			AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458	4864	4864			7897	protein-coding gene	gene with protein product		607623			NA	8446622	Standard	NM_000271	NM_000271	NA	Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.2397C>A	18.37:g.21121149G>T	ENSP00000269228:p.Cys799*	NA	Q9P130	37	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	G	38	7.037544	0.98021	.	.	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	.	.	.	5.89	4.84	0.62591	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-34.0474	10.5037	0.44821	0.1421:0.0:0.8579:0.0	.	.	.	.	X	799;481;644	.	ENSP00000269228:C799X	C	-	3	2	NPC1	19375147	1.000000	0.71417	1.000000	0.80357	0.215000	0.24574	2.812000	0.47994	2.793000	0.96121	0.561000	0.74099	TGC	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254823.2		-	ENST00000269228.5	Nonsense_Mutation	SNP	18 : 21121149 - 21121149 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	490	80
C18orf54	162681	broad.mit.edu	37	18	51898889	51898889	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51898889A>G	ENST00000300091.5	+	6	1229	c.897A>G	c.(895-897)caA>caG	p.Q299Q	C18orf54_ENST00000382911.4_Silent_p.Q460Q|C18orf54_ENST00000582188.1_3'UTR|C18orf54_ENST00000578138.1_Silent_p.Q78Q	NM_173529.4	NP_775800.3	Q8IYD9	CR054_HUMAN	chromosome 18 open reading frame 54	299						extracellular region				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		CCCTGAAACAAATGTTATTTA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	112	115			NA	NA	18		NA											NA				51898889		2203	4300	6503	SO:0001819	synonymous_variant			AK126503	CCDS11956.1, CCDS74223.1	18q21	2012-10-24			ENSG00000166845	ENSG00000166845	162681	162681			13796	protein-coding gene	gene with protein product	lung adenoma susceptibility protein 2	613258			NA		Standard	NM_173529	XM_005258201	NA	Approved	MGC33382, LAS2	uc031rij.1	Q8IYD9	OTTHUMG00000132703	ENST00000300091.5:c.897A>G	18.37:g.51898889A>G		NA	Q6MZU3|Q6ZTL6	37	CCDS11956.1																																																																																			C18orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256001.1		+	ENST00000300091.5	Silent	SNP	18 : 51898889 - 51898889 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	530	23
PTRH1	138428	broad.mit.edu	37	9	130477960	130477960	+	Translation_Start_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130477960C>T	ENST00000423807.1	-	0	322				C9orf117_ENST00000373293.5_3'UTR|PTRH1_ENST00000419060.1_De_novo_Start_InFrame|C9orf117_ENST00000464092.1_3'UTR			Q86Y79	PTH_HUMAN	peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)	NA					translation		aminoacyl-tRNA hydrolase activity|protein binding			NS(1)	1						GACGTCATCACCCCGCAGCAG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	14	14			NA	NA	9		NA											NA				130477960		2194	4284	6478					AK090922	CCDS35147.1	9q34.11	2006-02-13	2006-02-13	2006-02-13	ENSG00000187024	ENSG00000187024	138428	138428			27039	protein-coding gene	gene with protein product			chromosome 9 open reading frame 115	C9orf115	NA		Standard	NM_001002913	NM_001002913	NA	Approved	PTH1	uc004bro.3	Q86Y79	OTTHUMG00000020710	ENST00000423807.1:	9.37:g.130477960C>T		NA		37																																																																																				PTRH1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000054220.3		-	ENST00000423807.1	De_novo_Start_InFrame	SNP	9 : 130477960 - 130477960 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	93	16
TXNDC2	84203	broad.mit.edu	37	18	9887884	9887884	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9887884C>T	ENST00000357775.5	+	2	1442	c.1207C>T	c.(1207-1209)Ctg>Ttg	p.L403L	TXNDC2_ENST00000306084.6_Silent_p.L470L|TXNDC2_ENST00000536353.2_3'UTR	NM_032243.5	NP_115619.4	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	NA	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CGGGGAGAGGCTGGTGGCTGT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	53	58			NA	NA	18		NA											NA				9887884		2203	4300	6503	SO:0001819	synonymous_variant			AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454	NA	84203			16470	protein-coding gene	gene with protein product	sperm-specific thioredoxin 1				NA	11230166, 11399755	Standard		NM_001098529	NA	Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000357775.5:c.1207C>T	18.37:g.9887884C>T		NA	Q8N7U4|Q96RX3|Q9H0L8	37	CCDS11846.1																																																																																			TXNDC2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254488.3		+	ENST00000357775.5	Silent	SNP	18 : 9887884 - 9887884 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	218	51
MKRN3	7681	broad.mit.edu	37	15	23812378	23812378	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23812378T>C	ENST00000564592.1	+	2	492				MKRN3_ENST00000314520.3_Silent_p.D483D|MKRN3_ENST00000568945.1_Intron|MKRN3_ENST00000568252.1_Intron			Q13064	MKRN3_HUMAN	makorin ring finger protein 3	NA						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CACTGAGAGATGAGTTACCCT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	149	152			NA	NA	15		NA											NA				23812378		2203	4300	6503	SO:0001627	intron_variant			U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455	7681	7681		RING-type (C3HC4) zinc fingers	7114	protein-coding gene	gene with protein product	zinc finger protein 127	603856		ZNF127, D15S9	NA	10196367	Standard	NM_005664	NM_005664	NA	Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000564592.1:c.482+247T>C	15.37:g.23812378T>C		NA		37																																																																																				MKRN3-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000431941.1		+	ENST00000564592.1	Intron	SNP	15 : 23812378 - 23812378 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	698	141
NDUFA7	4701	broad.mit.edu	37	19	8381461	8381461	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8381461C>T	ENST00000301457.2	-	3	207	c.170G>A	c.(169-171)cGc>cAc	p.R57H	NDUFA7_ENST00000598884.1_Missense_Mutation_p.R57H	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	57					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5					NADH(DB00157)	GCGGCCATCGCGAGTGCAATA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	75	73			NA	NA	19		NA											NA				8381461		2019	4175	6194	SO:0001583	missense			AF050637	CCDS42492.1	19p13.2	2013-05-14	2002-08-29		ENSG00000267855	ENSG00000267855	4701	4701		Mitochondrial respiratory chain complex / Complex I	7691	protein-coding gene	gene with protein product	complex I B14.5a subunit	602139	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7 (14.5kD, B14.5a)		NA	9763676	Standard	NM_005001	NM_005001	NA	Approved	B14.5a	uc002mjm.2	O95182	OTTHUMG00000182459	ENST00000301457.2:c.170G>A	19.37:g.8381461C>T	ENSP00000301457:p.Arg57His	NA		37	CCDS42492.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201926	0.58234	.	.	ENSG00000167774	ENST00000301457	T	0.64803	-0.12	5.74	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.61627	0.2362	M	0.76002	2.32	0.37902	D	0.931084	P	0.39624	0.681	B	0.36030	0.216	T	0.70371	-0.4890	10	0.59425	D	0.04	-14.0334	13.361	0.60657	0.0:0.9236:0.0:0.0764	.	57	O95182	NDUA7_HUMAN	H	57	ENSP00000301457:R57H	ENSP00000301457:R57H	R	-	2	0	NDUFA7	8287461	1.000000	0.71417	0.121000	0.21740	0.555000	0.35460	7.429000	0.80309	1.424000	0.47217	0.561000	0.74099	CGC	NDUFA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461373.1		-	ENST00000301457.2	Missense_Mutation	SNP	19 : 8381461 - 8381461 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	540	102
ADNP	23394	broad.mit.edu	37	20	49509662	49509662	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:49509662T>C	ENST00000396029.3	-	5	2156	c.1589A>G	c.(1588-1590)cAc>cGc	p.H530R	ADNP_ENST00000396032.3_Missense_Mutation_p.H530R|ADNP_ENST00000349014.3_Missense_Mutation_p.H530R|ADNP_ENST00000371602.4_Missense_Mutation_p.H530R	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	530						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CATCCGCATGTGTGCGGCCAT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	142	144			NA	NA	20		NA											NA				49509662		2203	4300	6503	SO:0001583	missense			AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126	23394	23394		Homeoboxes / ZF class	15766	protein-coding gene	gene with protein product	ADNP homeobox 1	611386	activity-dependent neuroprotector		NA	9872452, 11013255	Standard	NM_181442	NM_015339	NA	Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.1589A>G	20.37:g.49509662T>C	ENSP00000379346:p.His530Arg	NA	E1P5Y2|O94881|Q5BKU2|Q9UG34	37	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	T	15.49	2.849202	0.51270	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	6.01	4.9	0.64082	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	0.69869	0.3159	L	0.49126	1.545	0.52099	D	0.999945	D	0.71674	0.998	D	0.73708	0.981	T	0.72134	-0.4382	9	0.87932	D	0	-0.8131	13.4865	0.61369	0.0:0.0:0.1306:0.8694	.	530	Q9H2P0	ADNP_HUMAN	R	530	.	ENSP00000342905:H530R	H	-	2	0	ADNP	48943069	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.965000	0.70387	1.084000	0.41184	0.528000	0.53228	CAC	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079705.2		-	ENST00000396029.3	Missense_Mutation	SNP	20 : 49509662 - 49509662 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	833	160
BCAS3	54828	broad.mit.edu	37	17	59112065	59112065	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:59112065C>T	ENST00000589222.1	+	17	1744	c.1676C>T	c.(1675-1677)tCg>tTg	p.S559L	BCAS3_ENST00000390652.5_Missense_Mutation_p.S574L|BCAS3_ENST00000588462.1_Missense_Mutation_p.S574L|BCAS3_ENST00000408905.3_Missense_Mutation_p.S559L|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000585744.1_Missense_Mutation_p.S345L|BCAS3_ENST00000588874.1_Missense_Mutation_p.S330L|BCAS3_ENST00000407086.3_Missense_Mutation_p.S559L			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	574						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CCCAGCAAATCGATGGGCGGA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	81	83			NA	NA	17		NA											NA				59112065		1805	4080	5885	SO:0001583	missense			AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376	54828	54828		WD repeat domain containing	14347	protein-coding gene	gene with protein product		607470			NA	12378525	Standard	NM_017679	NM_017679	NA	Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000589222.1:c.1676C>T	17.37:g.59112065C>T	ENSP00000466078:p.Ser559Leu	NA	Q17RM0|Q6KF21|Q8IXI6|Q8NDR8|Q8TDL9|Q8TDM1|Q8WY55|Q9BVF0|Q9H957|Q9H9Y9|Q9NXP4	37		.	.	.	.	.	.	.	.	.	.	C	35	5.457450	0.96240	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000405070;ENST00000408905;ENST00000360207	T;T;T	0.34275	1.43;1.39;1.37	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.56529	0.1991	L	0.48642	1.525	0.58432	D	0.999998	D;D;D;D;D;D	0.69078	0.997;0.988;0.995;0.997;0.997;0.997	D;P;P;D;D;D	0.72982	0.979;0.569;0.731;0.964;0.979;0.964	T	0.49661	-0.8916	10	0.51188	T	0.08	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	350;559;574;559;574;559	B4E3M9;Q9H6U6-3;Q9H6U6-8;Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;.;.;.;BCAS3_HUMAN;.	L	574;559;589;559;351	ENSP00000375067:S574L;ENSP00000385323:S559L;ENSP00000386173:S559L	ENSP00000353336:S351L	S	+	2	0	BCAS3	56466847	1.000000	0.71417	0.971000	0.41717	0.996000	0.88848	7.487000	0.81328	2.880000	0.98712	0.650000	0.86243	TCG	BCAS3-004	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000449571.1		+	ENST00000589222.1	Missense_Mutation	SNP	17 : 59112065 - 59112065 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	424	94
IGSF9B	22997	broad.mit.edu	37	11	133814213	133814213	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133814213C>T	ENST00000533871.2	-	3	541	c.311G>A	c.(310-312)cGc>cAc	p.R104H	IGSF9B_ENST00000321016.8_Missense_Mutation_p.R104H	NM_001277285.1	NP_001264214.1	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	104	Ig-like 1.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GTCCTCAGAGCGAACTTGTTC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	89	87			NA	NA	11		NA											NA				133814213		2054	4213	6267	SO:0001583	missense			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20			22997	22997		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	32326	protein-coding gene	gene with protein product		613773			NA		Standard	XM_290502	NM_001277285	NA	Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000533871.2:c.311G>A	11.37:g.133814213C>T	ENSP00000436552:p.Arg104His	NA		37		.	.	.	.	.	.	.	.	.	.	C	32	5.131947	0.94473	.	.	ENSG00000080854	ENST00000321016;ENST00000527648;ENST00000533160;ENST00000526663	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.69	5.69	0.88448	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	D	0.83008	0.5161	M	0.79258	2.445	0.58432	D	0.999997	D	0.76494	0.999	D	0.73380	0.98	D	0.84370	0.0543	10	0.87932	D	0	.	19.8208	0.96592	0.0:1.0:0.0:0.0	.	104	Q9UPX0	TUTLB_HUMAN	H	104;104;94;151	ENSP00000317980:R104H;ENSP00000436576:R104H;ENSP00000434026:R94H;ENSP00000435989:R151H	ENSP00000317980:R104H	R	-	2	0	IGSF9B	133319423	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.819000	0.62664	2.688000	0.91661	0.563000	0.77884	CGC	IGSF9B-002	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000471431.1		-	ENST00000533871.2	Missense_Mutation	SNP	11 : 133814213 - 133814213 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	187	26
AADACL2	344752	broad.mit.edu	37	3	151475275	151475275	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151475275G>A	ENST00000356517.3	+	5	1208	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	367						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TGAACATATTGAGGATGGAAT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	95	96			NA	NA	3		NA											NA				151475275		2203	4299	6502	SO:0001583	missense			BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953	344752	344752			24427	protein-coding gene	gene with protein product					NA		Standard	NM_207365	NM_207365	NA	Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.1099G>A	3.37:g.151475275G>A	ENSP00000348911:p.Glu367Lys	NA	Q5HYJ4	37	CCDS3161.2	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389903	0.61956	.	.	ENSG00000197953	ENST00000356517	T	0.60040	0.22	5.15	5.15	0.70609	Alpha/beta hydrolase fold-3 (1);	0.443069	0.25958	N	0.027210	T	0.75155	0.3811	M	0.77486	2.375	0.28532	N	0.912553	D	0.60575	0.988	P	0.61722	0.893	T	0.71807	-0.4481	10	0.62326	D	0.03	-38.0713	18.4096	0.90546	0.0:0.0:1.0:0.0	.	367	Q6P093	ADCL2_HUMAN	K	367	ENSP00000348911:E367K	ENSP00000348911:E367K	E	+	1	0	AADACL2	152957965	0.938000	0.31826	0.362000	0.25862	0.547000	0.35210	1.698000	0.37794	2.683000	0.91414	0.591000	0.81541	GAG	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342288.3		+	ENST00000356517.3	Missense_Mutation	SNP	3 : 151475275 - 151475275 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	465	77
E2F5	1875	broad.mit.edu	37	8	86121474	86121474	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86121474C>A	ENST00000418930.2	+	6	909	c.713C>A	c.(712-714)cCc>cAc	p.P238H	E2F5_ENST00000256117.5_Missense_Mutation_p.P239H|E2F5_ENST00000517476.1_Missense_Mutation_p.P77H|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000521429.1_Missense_Mutation_p.P65H|E2F5_ENST00000416274.2_Missense_Mutation_p.P238H			Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	238					G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						TCATCTAAGCCCGTGGTTTTT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	139	139			NA	NA	8		NA											NA				86121474		1967	4146	6113	SO:0001583	missense			X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740	1875	1875			3119	protein-coding gene	gene with protein product		600967			NA	7892279	Standard	NM_001951	NM_001083588	NA	Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000418930.2:c.713C>A	8.37:g.86121474C>A	ENSP00000414312:p.Pro238His	NA	Q16601|Q92756	37	CCDS47886.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460149	0.84317	.	.	ENSG00000133740	ENST00000418930;ENST00000256117;ENST00000416274;ENST00000517476;ENST00000521429;ENST00000518234	D;D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4;-2.4	6.13	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.95053	0.8398	M	0.84773	2.715	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.993;0.99	D	0.95449	0.8532	10	0.59425	D	0.04	-17.471	17.581	0.87968	0.0:0.8765:0.1234:0.0	.	65;238;238	E5RHD4;Q15329-2;Q15329	.;.;E2F5_HUMAN	H	238;239;238;77;65;74	ENSP00000414312:P238H;ENSP00000256117:P239H;ENSP00000398124:P238H;ENSP00000429120:P77H;ENSP00000428606:P65H;ENSP00000429669:P74H	ENSP00000256117:P239H	P	+	2	0	E2F5	86308726	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.483000	0.81158	1.601000	0.50113	0.650000	0.86243	CCC	E2F5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380273.1		+	ENST00000418930.2	Missense_Mutation	SNP	8 : 86121474 - 86121474 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	319	41
CYP2S1	29785	broad.mit.edu	37	19	41704369	41704369	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41704369C>T	ENST00000310054.4	+	4	712	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	166					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CCCCCCAGGACGCCCATTCGA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	113	114			NA	NA	19		NA											NA				41704369		2203	4300	6503	SO:0001583	missense			AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600	29785	29785		Cytochrome P450s	15654	protein-coding gene	gene with protein product		611529	cytochrome P450, subfamily IIS, polypeptide 1		NA	11181079	Standard		NM_030622	NA	Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.496C>T	19.37:g.41704369C>T	ENSP00000308032:p.Arg166Cys	NA	Q9BZ66	37	CCDS12573.1	.	.	.	.	.	.	.	.	.	.	c	13.35	2.210337	0.39003	.	.	ENSG00000167600	ENST00000301173;ENST00000310054	T	0.69175	-0.38	5.14	-0.331	0.12679	.	2.019370	0.02308	N	0.071858	T	0.72795	0.3505	M	0.82056	2.57	0.09310	N	1	D	0.57571	0.98	P	0.48227	0.571	T	0.58719	-0.7587	10	0.66056	D	0.02	.	6.1916	0.20528	0.2612:0.568:0.0:0.1708	.	166	Q96SQ9	CP2S1_HUMAN	C	166	ENSP00000308032:R166C	ENSP00000301173:R166C	R	+	1	0	CYP2S1	46396209	0.000000	0.05858	0.095000	0.20976	0.397000	0.30659	-0.565000	0.05929	0.158000	0.19367	0.306000	0.20318	CGC	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463287.1		+	ENST00000310054.4	Missense_Mutation	SNP	19 : 41704369 - 41704369 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	937	150
CEP120	153241	broad.mit.edu	37	5	122713160	122713160	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122713160G>A	ENST00000306467.5	-	16	2570	c.2266C>T	c.(2266-2268)Cgt>Tgt	p.R756C	CEP120_ENST00000328236.5_Missense_Mutation_p.R756C|CEP120_ENST00000306481.6_Missense_Mutation_p.R730C			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	756						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TTGGCCCTACGGATAGAGTCC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													203	184	191			NA	NA	5		NA											NA				122713160		2203	4300	6503	SO:0001583	missense			AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944	153241	153241			26690	protein-coding gene	gene with protein product		613446	coiled-coil domain containing 100	CCDC100	NA	17920017	Standard	NM_153223	NM_153223	NA	Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.2266C>T	5.37:g.122713160G>A	ENSP00000303058:p.Arg756Cys	NA	Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	37	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392292	0.62066	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.73682	0.3618	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.65443	0.935	T	0.76162	-0.3060	10	0.87932	D	0	-14.5195	13.5263	0.61597	0.0:0.0:0.7276:0.2723	.	756	Q8N960	CE120_HUMAN	C	756;756;730;730	ENSP00000303058:R756C;ENSP00000327504:R756C;ENSP00000307419:R730C;ENSP00000421620:R730C	ENSP00000303058:R756C	R	-	1	0	CEP120	122741059	1.000000	0.71417	0.872000	0.34217	0.718000	0.41266	4.425000	0.59875	2.767000	0.95098	0.655000	0.94253	CGT	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250899.2		-	ENST00000306467.5	Missense_Mutation	SNP	5 : 122713160 - 122713160 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	721	142
SGIP1	84251	broad.mit.edu	37	1	67155901	67155901	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67155901C>A	ENST00000371037.4	+	17	1549	c.1472C>A	c.(1471-1473)tCt>tAt	p.S491Y	SGIP1_ENST00000237247.6_Missense_Mutation_p.S522Y|SGIP1_ENST00000371035.3_Missense_Mutation_p.S281Y|SGIP1_ENST00000371039.1_Missense_Mutation_p.S292Y|SGIP1_ENST00000371036.3_Missense_Mutation_p.S291Y	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	491	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CCCATTCATTCTTCCAGCCCT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													177	168	171			NA	NA	1		NA											NA				67155901		2203	4300	6503	SO:0001583	missense			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473	84251	84251			25412	protein-coding gene	gene with protein product		611540			NA	11230166	Standard	NM_032291	NM_032291	NA	Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1472C>A	1.37:g.67155901C>A	ENSP00000360076:p.Ser491Tyr	NA	A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	37	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939189	0.92526	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T	0.04454	3.62;3.62;3.62;3.62;3.62	6.04	6.04	0.98038	.	0.650667	0.17876	N	0.159010	T	0.15305	0.0369	M	0.64997	1.995	0.54753	D	0.999983	D;P;P;D	0.71674	0.998;0.826;0.826;0.963	D;P;P;P	0.78314	0.991;0.467;0.467;0.642	T	0.00326	-1.1815	10	0.56958	D	0.05	-11.7141	20.5792	0.99380	0.0:1.0:0.0:0.0	.	521;91;281;491	A6NEV3;B3KR01;B7Z5H8;Q9BQI5	.;.;.;SGIP1_HUMAN	Y	522;292;281;521;494;291;491	ENSP00000237247:S522Y;ENSP00000360078:S292Y;ENSP00000360074:S281Y;ENSP00000360075:S291Y;ENSP00000360076:S491Y	ENSP00000237247:S522Y	S	+	2	0	SGIP1	66928489	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.873000	0.98535	0.561000	0.74099	TCT	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025395.4		+	ENST00000371037.4	Missense_Mutation	SNP	1 : 67155901 - 67155901 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	912	100
MYB	4602	broad.mit.edu	37	6	135518322	135518322	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135518322C>A	ENST00000341911.5	+	10	1626	c.1427C>A	c.(1426-1428)cCa>cAa	p.P476Q	MYB_ENST00000534044.1_Intron|MYB_ENST00000531845.1_Intron|MYB_ENST00000316528.8_Intron|MYB_ENST00000367814.4_Intron|MYB_ENST00000533624.1_Intron|MYB_ENST00000442647.2_Intron|MYB_ENST00000525369.1_Intron|MYB_ENST00000528774.1_Missense_Mutation_p.P473Q|MYB_ENST00000527615.1_Intron|MYB_ENST00000534121.1_Missense_Mutation_p.P460Q	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	449					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		AGCACAATTCCACTGGTCATC	0.527		NA	T	NFIB	adenoid cystic carcinoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	0													111	98	102			NA	NA	6		NA											NA				135518322		1568	3582	5150	SO:0001583	missense				CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513	4602	4602			7545	protein-coding gene	gene with protein product		189990			NA	17599807	Standard		NM_001130172	NA	Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000341911.5:c.1427C>A	6.37:g.135518322C>A	ENSP00000339992:p.Pro476Gln	NA	P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	37	CCDS47481.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026785	0.75390	.	.	ENSG00000118513	ENST00000341911;ENST00000528774;ENST00000534121	T;T;T	0.19938	2.14;2.15;2.11	5.93	5.93	0.95920	.	0.464052	0.21217	N	0.078202	T	0.34600	0.0903	L	0.43923	1.385	0.80722	D	1	P;P;D	0.89917	0.883;0.868;1.0	B;B;D	0.91635	0.299;0.312;0.999	T	0.02167	-1.1202	10	0.56958	D	0.05	-9.8942	20.3539	0.98825	0.0:1.0:0.0:0.0	.	473;460;476	E9PNL6;E9PNA4;P10242-4	.;.;.	Q	476;473;460	ENSP00000339992:P476Q;ENSP00000434723:P473Q;ENSP00000432851:P460Q	ENSP00000339992:P476Q	P	+	2	0	MYB	135560015	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.530000	0.73816	2.826000	0.97356	0.655000	0.94253	CCA	MYB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042348.3		+	ENST00000341911.5	Missense_Mutation	SNP	6 : 135518322 - 135518322 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	339	57
ZSCAN25	221785	broad.mit.edu	37	7	99227256	99227256	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99227256C>A	ENST00000394152.2	+	8	1575	c.1248C>A	c.(1246-1248)caC>caA	p.H416Q	ZSCAN25_ENST00000262941.6_Missense_Mutation_p.H344Q|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.H416Q|ZSCAN25_ENST00000466948.1_Intron	NM_145115.2	NP_660090.2			zinc finger and SCAN domain containing 25	NA											NA						GCCAGAGACACCACCTGGAGG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	50	50			NA	NA	7		NA											NA				99227256		2203	4300	6503	SO:0001583	missense			AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037	221785	221785		-, Zinc fingers, C2H2-type	21961	protein-coding gene	gene with protein product			zinc finger protein 498	ZNF498	NA	11179890	Standard	NM_145115	XM_005250194	NA	Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.1248C>A	7.37:g.99227256C>A	ENSP00000377708:p.His416Gln	NA		37	CCDS5671.2	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179076	0.57692	.	.	ENSG00000197037	ENST00000394152;ENST00000334715;ENST00000262941	T;T;T	0.00986	5.47;5.47;5.47	3.93	1.36	0.22044	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47852	D	0.000213	T	0.00998	0.0033	N	0.08118	0	0.32447	N	0.545993	P;D	0.53885	0.936;0.963	P;P	0.53185	0.72;0.624	T	0.58629	-0.7603	10	0.59425	D	0.04	-19.7878	7.1148	0.25411	0.0:0.6946:0.0:0.3054	.	344;416	Q6NSZ9-2;Q6NSZ9	.;ZN498_HUMAN	Q	416;416;344	ENSP00000377708:H416Q;ENSP00000334800:H416Q;ENSP00000262941:H344Q	ENSP00000262941:H344Q	H	+	3	2	ZNF498	99065192	0.000000	0.05858	0.976000	0.42696	0.970000	0.65996	-1.318000	0.02705	0.305000	0.22832	0.561000	0.74099	CAC	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157203.4		+	ENST00000394152.2	Missense_Mutation	SNP	7 : 99227256 - 99227256 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	258	57
BAZ2A	11176	broad.mit.edu	37	12	57003607	57003607	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57003607G>A	ENST00000549884.1	-	10	2093	c.2005C>T	c.(2005-2007)Cgg>Tgg	p.R669W	BAZ2A_ENST00000551812.1_Missense_Mutation_p.R671W|BAZ2A_ENST00000179765.5_Missense_Mutation_p.R639W|BAZ2A_ENST00000379441.3_Missense_Mutation_p.R641W			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	671	Lys-rich.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CCTCGACCCCGTTTCACCTTG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	74	75			NA	NA	12		NA											NA				57003607		1912	4128	6040	SO:0001583	missense			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108	11176	11176		Zinc fingers, PHD-type	962	protein-coding gene	gene with protein product	TTF-I interacting peptide 5	605682			NA	10662543, 11532953	Standard	NM_013449	XM_005268596	NA	Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000549884.1:c.2005C>T	12.37:g.57003607G>A	ENSP00000447941:p.Arg669Trp	NA	B3KN66|O00536|O15030|Q68DI8|Q96H26	37		.	.	.	.	.	.	.	.	.	.	G	20.8	4.045845	0.75846	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.02	4.1	0.47936	AT hook, DNA-binding motif (1);	0.122860	0.53938	D	0.000052	T	0.32315	0.0825	L	0.48642	1.525	0.46927	D	0.99925	D;D	0.89917	1.0;1.0	D;D	0.70016	0.967;0.928	T	0.04481	-1.0948	10	0.87932	D	0	.	11.8124	0.52189	0.0:0.0:0.6821:0.3179	.	669;671	F8VU39;Q9UIF9	.;BAZ2A_HUMAN	W	641;639;671;669	ENSP00000368754:R641W;ENSP00000179765:R639W;ENSP00000446880:R671W;ENSP00000447941:R669W	ENSP00000179765:R639W	R	-	1	2	BAZ2A	55289874	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.210000	0.65214	1.423000	0.47198	0.655000	0.94253	CGG	BAZ2A-003	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000408563.1		-	ENST00000549884.1	Missense_Mutation	SNP	12 : 57003607 - 57003607 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	174	8
POLE2	5427	broad.mit.edu	37	14	50118009	50118009	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50118009C>T	ENST00000539565.2	-	15	1438	c.1220G>A	c.(1219-1221)aGc>aAc	p.S407N	POLE2_ENST00000554396.1_Missense_Mutation_p.S433N|POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000216367.5_Missense_Mutation_p.S433N	NM_001197330.1	NP_001184259.1	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	433					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)					AGCCAAATTGCTGCTAGGAAA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	76	76			NA	NA	14		NA											NA				50118009		2203	4300	6503	SO:0001583	missense			AF025840	CCDS32073.1, CCDS55914.1, CCDS55915.1	14q21-q22	2012-05-18	2012-05-18		ENSG00000100479	ENSG00000100479	5427	5427		DNA polymerases	9178	protein-coding gene	gene with protein product	DNA polymerase epsilon subunit B	602670	polymerase (DNA directed), epsilon 2 (p59 subunit)		NA	9405441, 9443964	Standard	NM_002692	NM_002692	NA	Approved	DPE2	uc001wwu.3	P56282	OTTHUMG00000170813	ENST00000539565.2:c.1220G>A	14.37:g.50118009C>T	ENSP00000446313:p.Ser407Asn	NA	A0AV55|A4LBB7|A6NH58|O43560	37	CCDS55914.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.450900	0.26074	.	.	ENSG00000100479	ENST00000216367;ENST00000539565;ENST00000554396	T;T;T	0.30714	1.52;1.52;1.52	5.73	5.73	0.89815	DNA polymerase alpha/epsilon, subunit B (1);	0.152499	0.64402	D	0.000001	T	0.19525	0.0469	N	0.20685	0.6	0.36970	D	0.893758	B;B;B	0.11235	0.002;0.004;0.004	B;B;B	0.14023	0.006;0.01;0.01	T	0.13495	-1.0507	10	0.25751	T	0.34	-14.4251	10.6341	0.45554	0.0:0.8577:0.0:0.1423	.	433;407;433	A4FU92;B4DDE6;P56282	.;.;DPOE2_HUMAN	N	433;407;433	ENSP00000216367:S433N;ENSP00000446313:S407N;ENSP00000451621:S433N	ENSP00000216367:S433N	S	-	2	0	POLE2	49187759	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	1.097000	0.30988	2.861000	0.98227	0.655000	0.94253	AGC	POLE2-002	NOVEL	non_canonical_conserved|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410515.1		-	ENST00000539565.2	Missense_Mutation	SNP	14 : 50118009 - 50118009 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	228	51
RP11-219A15.1	0	broad.mit.edu	37	17	16593733	16593733	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16593733G>T	ENST00000448331.3	+	1	159	c.19G>T	c.(19-21)Gaa>Taa	p.E7*	CCDC144A_ENST00000360524.8_Nonsense_Mutation_p.E7*|CCDC144A_ENST00000399273.1_Nonsense_Mutation_p.E7*|CCDC144A_ENST00000443444.2_Nonsense_Mutation_p.E7*|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000456009.1_Nonsense_Mutation_p.E7*|CCDC144A_ENST00000340621.5_Nonsense_Mutation_p.E7*						NA											NA						CTGGGGTGGAGAAAAGCGGGG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	14	13			NA	NA	17		NA											NA				16593733		2193	4288	6481	SO:0001587	stop_gained											NA	NA			NA							NA					NA						ENST00000448331.3:c.19G>T	17.37:g.16593733G>T	ENSP00000440655:p.Glu7*	NA		37		.	.	.	.	.	.	.	.	.	.	.	16.72	3.201266	0.58234	.	.	ENSG00000170160	ENST00000420937;ENST00000340621;ENST00000399273;ENST00000436374;ENST00000399264;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000456009;ENST00000360495	.	.	.	0.542	-0.614	0.11590	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	.	.	.	.	.	.	.	X	7	.	ENSP00000344740:E7X	E	+	1	0	CCDC144A	16534458	0.316000	0.24580	0.001000	0.08648	0.041000	0.13682	0.199000	0.17237	-0.291000	0.09012	0.398000	0.26397	GAA	RP11-219A15.1-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000445382.1		+	ENST00000448331.3	Nonsense_Mutation	SNP	17 : 16593733 - 16593733 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	130	24
TLR2	7097	broad.mit.edu	37	4	154625213	154625213	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154625213C>T	ENST00000260010.6	+	1	2562	c.1154C>T	c.(1153-1155)gCc>gTc	p.A385V		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	385					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				TGTGAGGATGCCTGGCCCTCT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	39	38			NA	NA	4		NA											NA				154625213		2201	4300	6501	SO:0001583	missense			U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462	7097	7097		CD molecules	11848	protein-coding gene	gene with protein product		603028			NA	9435236	Standard		XM_005263193	NA	Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.1154C>T	4.37:g.154625213C>T	ENSP00000260010:p.Ala385Val	NA	B3Y612|O15454|Q8NI00	37	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.515517	0.27123	.	.	ENSG00000137462	ENST00000260010	T	0.21932	1.98	6.06	4.33	0.51752	.	0.194642	0.45361	D	0.000372	T	0.26521	0.0648	M	0.70595	2.14	0.38589	D	0.950384	P	0.36660	0.564	B	0.29176	0.099	T	0.23226	-1.0194	10	0.72032	D	0.01	.	18.8242	0.92109	0.0:0.7436:0.2564:0.0	.	385	O60603	TLR2_HUMAN	V	385	ENSP00000260010:A385V	ENSP00000260010:A385V	A	+	2	0	TLR2	154844663	0.001000	0.12720	0.966000	0.40874	0.974000	0.67602	-0.234000	0.09028	0.873000	0.35799	0.655000	0.94253	GCC	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365205.1		+	ENST00000260010.6	Missense_Mutation	SNP	4 : 154625213 - 154625213 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	61
SBF1	6305	broad.mit.edu	37	22	50905844	50905844	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50905844C>A	ENST00000380817.3	-	5	655	c.472G>T	c.(472-474)Gag>Tag	p.E158*	SBF1_ENST00000390679.3_Nonsense_Mutation_p.E158*|SBF1_ENST00000348911.6_Nonsense_Mutation_p.E159*	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	NA	DENN.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TTCAGGCCCTCCACGTGGATG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	103	100			NA	NA	22		NA											NA				50905844		2160	4245	6405	SO:0001587	stop_gained			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241	6305	6305		Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins, DENN/MADD domain containing, Pleckstrin homology (PH) domain containing	10542	protein-coding gene	gene with protein product	myotubularin related 5, DENN/MADD domain containing 7A	603560			NA	9537414, 9736772	Standard		NM_002972	NA	Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000380817.3:c.472G>T	22.37:g.50905844C>A	ENSP00000370196:p.Glu158*	NA	A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	37	CCDS14091.2	.	.	.	.	.	.	.	.	.	.	C	39	7.469269	0.98302	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	.	.	.	4.75	4.75	0.60458	.	0.570441	0.17223	N	0.182256	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	12.3763	0.55281	0.0:0.9154:0.0:0.0846	.	.	.	.	X	158;159;169;168;158	.	ENSP00000336522:E168X	E	-	1	0	SBF1	49252710	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.532000	0.67154	2.467000	0.83353	0.561000	0.74099	GAG	SBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316819.2		-	ENST00000380817.3	Nonsense_Mutation	SNP	22 : 50905844 - 50905844 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	745	158
AVL9	23080	broad.mit.edu	37	7	32598658	32598658	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:32598658C>T	ENST00000318709.4	+	10	1018	c.797C>T	c.(796-798)aCt>aTt	p.T266I	AVL9_ENST00000409301.1_Missense_Mutation_p.T266I|AVL9_ENST00000404479.1_Missense_Mutation_p.T266I	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	266						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TCTGCATCCACTGCTGATGTT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	84	86			NA	NA	7		NA											NA				32598658		2203	4300	6503	SO:0001583	missense			D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778	23080	23080			28994	protein-coding gene	gene with protein product		612927	KIAA0241	KIAA0241	NA	17229886, 22595670	Standard	NM_015060	XM_005249668	NA	Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.797C>T	7.37:g.32598658C>T	ENSP00000315568:p.Thr266Ile	NA	Q92573	37	CCDS34613.1	.	.	.	.	.	.	.	.	.	.	C	3.691	-0.063590	0.07273	.	.	ENSG00000105778	ENST00000318709;ENST00000409301;ENST00000329714;ENST00000404479;ENST00000446718	T;T;T;T	0.46819	0.93;0.93;0.88;0.86	5.21	2.41	0.29592	.	0.540486	0.20014	N	0.101063	T	0.29556	0.0737	N	0.14661	0.345	0.09310	N	0.999999	B;B;B	0.24317	0.101;0.009;0.011	B;B;B	0.21917	0.037;0.008;0.009	T	0.26087	-1.0113	10	0.56958	D	0.05	-17.5432	10.5606	0.45144	0.0:0.7882:0.0:0.2118	.	266;266;266	Q8N6Z3;Q8NBF6-2;Q8NBF6	.;.;AVL9_HUMAN	I	266;266;266;266;197	ENSP00000315568:T266I;ENSP00000387011:T266I;ENSP00000385242:T266I;ENSP00000395134:T197I	ENSP00000315568:T266I	T	+	2	0	AVL9	32565183	0.004000	0.15560	0.009000	0.14445	0.005000	0.04900	0.044000	0.13992	0.794000	0.33899	0.591000	0.81541	ACT	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328643.1		+	ENST00000318709.4	Missense_Mutation	SNP	7 : 32598658 - 32598658 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	251	52
FAM181A	90050	broad.mit.edu	37	14	94395237	94395237	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94395237C>A	ENST00000267594.5	+	3	1099	c.792C>A	c.(790-792)gtC>gtA	p.V264V	FAM181A_ENST00000556222.1_Silent_p.V202V|FAM181A_ENST00000557719.1_Silent_p.V202V|FAM181A_ENST00000557000.2_Silent_p.V202V	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	264										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						TGCCTGGGGTCTCCTTGGTGG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	51	51			NA	NA	14		NA											NA				94395237		2203	4300	6503	SO:0001819	synonymous_variant			BC009073	CCDS9914.1, CCDS55939.1	14q32.12	2011-11-30	2008-07-22	2008-07-22	ENSG00000140067	ENSG00000140067	90050	90050			20491	protein-coding gene	gene with protein product			chromosome 14 open reading frame 152	C14orf152	NA		Standard	NM_138344	NM_138344	NA	Approved		uc021saz.1	Q8N9Y4	OTTHUMG00000171297	ENST00000267594.5:c.792C>A	14.37:g.94395237C>A		NA	B2RD39|Q96GY1	37	CCDS9914.1																																																																																			FAM181A-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412840.1		+	ENST00000267594.5	Silent	SNP	14 : 94395237 - 94395237 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	233	22
TENM4	26011	broad.mit.edu	37	11	78372605	78372605	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:78372605G>A	ENST00000278550.7	-	33	7902	c.7440C>T	c.(7438-7440)ttC>ttT	p.F2480F		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4	NA											NA						TGTGTAGCTGGAATCCAAAGG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	100	100			NA	NA	11		NA											NA				78372605		2028	4195	6223	SO:0001819	synonymous_variant			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256	26011	26011			29945	protein-coding gene	gene with protein product		610084	odz, odd Oz/ten-m homolog 4 (Drosophila)	ODZ4	NA	12000766, 10625539	Standard		NM_001098816	NA	Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.7440C>T	11.37:g.78372605G>A		NA		37	CCDS44688.1																																																																																			TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391406.2		-	ENST00000278550.7	Silent	SNP	11 : 78372605 - 78372605 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	106	15
AGRN	375790	broad.mit.edu	37	1	989173	989173	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:989173C>T	ENST00000379370.2	+	34	5742	c.5692C>T	c.(5692-5694)Cgc>Tgc	p.R1898C		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1898	Laminin G-like 3.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		ACTGAGCCTGCGCACTGAGGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	30	32			NA	NA	1		NA											NA				989173		2202	4296	6498	SO:0001583	missense			XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157	375790	375790		Proteoglycans / Extracellular Matrix : Other	329	protein-coding gene	gene with protein product	agrin proteoglycan	103320			NA	1851019, 12270958	Standard	NM_198576	NM_198576	NA	Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.5692C>T	1.37:g.989173C>T	ENSP00000368678:p.Arg1898Cys	NA	Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	37	CCDS30551.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.69|12.69	2.013379|2.013379	0.35511|0.35511	.|.	.|.	ENSG00000188157|ENSG00000188157	ENST00000419249|ENST00000379370;ENST00000379364	.|D	.|0.84516	.|-1.86	3.95|3.95	3.0|3.0	0.34707|0.34707	.|Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	.|0.207151	.|0.27008	.|N	.|0.021390	D|D	0.90837|0.90837	0.7122|0.7122	M|M	0.86268|0.86268	2.805|2.805	0.53688|0.53688	D|D	0.999971|0.999971	.|D	.|0.89917	.|1.0	.|D	.|0.70935	.|0.971	D|D	0.89568|0.89568	0.3811|0.3811	5|10	.|0.87932	.|D	.|0	-29.3102|-29.3102	6.6032|6.6032	0.22712|0.22712	0.3673:0.4808:0.1519:0.0|0.3673:0.4808:0.1519:0.0	.|.	.|1898	.|O00468	.|AGRIN_HUMAN	V|C	219|1898;260	.|ENSP00000368678:R1898C	.|ENSP00000368671:R260C	A|R	+|+	2|1	0|0	AGRN|AGRN	979036|979036	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.307000|0.307000	0.27823|0.27823	3.690000|3.690000	0.54713|0.54713	0.831000|0.831000	0.34780|0.34780	0.462000|0.462000	0.41574|0.41574	GCG|CGC	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097990.2		+	ENST00000379370.2	Missense_Mutation	SNP	1 : 989173 - 989173 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	85	9
DDX56	54606	broad.mit.edu	37	7	44611245	44611245	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44611245G>T	ENST00000431640.1	-	6	765	c.736C>A	c.(736-738)Ctc>Atc	p.L246I	DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000258772.5_Missense_Mutation_p.L246I			Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	246	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						TACAGCAGGAGGAATTTGTCT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	79	84			NA	NA	7		NA											NA				44611245		2203	4300	6503	SO:0001583	missense			AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271	54606	54606		DEAD-boxes	18193	protein-coding gene	gene with protein product	nucleolar helicase of 61 kDa	608023	DEAD (Asp-Glu-Ala-Asp) box polypeptide 56		NA	10749921	Standard	NM_019082	NM_019082	NA	Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000431640.1:c.736C>A	7.37:g.44611245G>T	ENSP00000393488:p.Leu246Ile	NA	A4D2K9|Q6IAE2|Q9H9I8	37	CCDS59053.1	.	.	.	.	.	.	.	.	.	.	.	19.73	3.881624	0.72294	.	.	ENSG00000136271	ENST00000258772;ENST00000431640	T;T	0.04234	3.67;3.75	5.82	2.03	0.26663	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.12347	0.0300	M	0.68593	2.085	0.45899	D	0.998748	P;D	0.69078	0.822;0.997	P;P	0.61201	0.495;0.885	T	0.12426	-1.0548	10	0.20519	T	0.43	-17.2289	8.7838	0.34807	0.313:0.0:0.687:0.0	.	246;246	C9JV95;Q9NY93	.;DDX56_HUMAN	I	246	ENSP00000258772:L246I;ENSP00000393488:L246I	ENSP00000258772:L246I	L	-	1	0	DDX56	44577770	1.000000	0.71417	0.061000	0.19648	0.825000	0.46686	4.194000	0.58393	0.096000	0.17463	-0.251000	0.11542	CTC	DDX56-003	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339402.1		-	ENST00000431640.1	Missense_Mutation	SNP	7 : 44611245 - 44611245 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	367	61
MCCC2	64087	broad.mit.edu	37	5	70948515	70948515	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:70948515C>T	ENST00000340941.6	+	16	1637	c.1508C>T	c.(1507-1509)gCg>gTg	p.A503V	MCCC2_ENST00000323375.8_Missense_Mutation_p.A465V	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	503	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	GCTGATGAAGCGGCTTTAAAA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	57	57			NA	NA	5		NA											NA				70948515		2203	4300	6503	SO:0001583	missense			AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	64087	64087	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	methylcrotonoyl-Coenzyme A carboxylase 2 (beta)		NA		Standard		NM_022132	NA	Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.1508C>T	5.37:g.70948515C>T	ENSP00000343657:p.Ala503Val	NA	A6NIY9|Q96C27|Q9Y4L7	37	CCDS34184.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123269	0.56613	.	.	ENSG00000131844	ENST00000340941;ENST00000323375;ENST00000509539	D;D;D	0.97710	-3.26;-3.26;-4.5	5.44	5.44	0.79542	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.107337	0.64402	D	0.000007	D	0.95968	0.8687	M	0.68317	2.08	0.58432	D	0.999997	B	0.31413	0.322	B	0.19391	0.025	D	0.94985	0.8129	10	0.62326	D	0.03	-14.0895	13.6461	0.62281	0.1555:0.8445:0.0:0.0	.	503	Q9HCC0	MCCB_HUMAN	V	503;465;275	ENSP00000343657:A503V;ENSP00000327308:A465V;ENSP00000425474:A275V	ENSP00000327308:A465V	A	+	2	0	MCCC2	70984271	0.999000	0.42202	0.978000	0.43139	0.977000	0.68977	3.682000	0.54656	2.556000	0.86216	0.491000	0.48974	GCG	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369243.4		+	ENST00000340941.6	Missense_Mutation	SNP	5 : 70948515 - 70948515 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	198	24
C15orf39	56905	broad.mit.edu	37	15	75499830	75499830	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75499830C>T	ENST00000360639.2	+	2	1761	c.1441C>T	c.(1441-1443)Cgg>Tgg	p.R481W	C15orf39_ENST00000394987.4_Missense_Mutation_p.R481W|C15orf39_ENST00000567617.1_Missense_Mutation_p.R481W			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	481										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CCCCTGTGCCCGGGAGTGCCA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	50	48			NA	NA	15		NA											NA				75499830		2197	4294	6491	SO:0001583	missense			AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173	56905	56905			24497	protein-coding gene	gene with protein product			chromosome 15 open reading frame 38~Name Same As HGNC:28782		NA		Standard	NM_015492	NM_015492	NA	Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.1441C>T	15.37:g.75499830C>T	ENSP00000353854:p.Arg481Trp	NA	B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	37	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999260	0.35226	.	.	ENSG00000167173	ENST00000360639;ENST00000394987	T;T	0.65916	-0.18;-0.18	5.2	0.504	0.16946	.	1.000980	0.08061	N	0.998225	T	0.42630	0.1211	N	0.08118	0	0.23966	N	0.996329	D	0.60160	0.987	B	0.43783	0.431	T	0.38779	-0.9645	10	0.72032	D	0.01	-2.613	8.491	0.33100	0.4953:0.3806:0.1241:0.0	.	481	Q6ZRI6	CO039_HUMAN	W	481	ENSP00000353854:R481W;ENSP00000378438:R481W	ENSP00000353854:R481W	R	+	1	2	C15orf39	73286883	0.005000	0.15991	0.942000	0.38095	0.602000	0.36980	0.424000	0.21330	0.533000	0.28675	0.563000	0.77884	CGG	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286410.1		+	ENST00000360639.2	Missense_Mutation	SNP	15 : 75499830 - 75499830 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	516	42
LRRIQ3	127255	broad.mit.edu	37	1	74492596	74492596	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:74492596G>T	ENST00000395089.1	-	7	1775	c.1776C>A	c.(1774-1776)gcC>gcA	p.A592A	LRRIQ3_ENST00000354431.4_Silent_p.A592A			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	592										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CTTTTTCAAAGGCAATCATAT	0.284		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	86	89			NA	NA	1		NA											NA				74492596		1801	4057	5858	SO:0001819	synonymous_variant			BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620	127255	127255			28318	protein-coding gene	gene with protein product			leucine rich repeat containing 44	LRRC44	NA	12477932	Standard	NM_145258	NM_001105659	NA	Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1776C>A	1.37:g.74492596G>T		NA	A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	37	CCDS41350.1																																																																																			LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316539.1		-	ENST00000395089.1	Silent	SNP	1 : 74492596 - 74492596 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	169	9
TNFRSF12A	51330	broad.mit.edu	37	16	3071282	3071282	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3071282C>T	ENST00000326577.4	+	2	247	c.161C>T	c.(160-162)tCt>tTt	p.S54F	TNFRSF12A_ENST00000341627.5_Intron|TNFRSF12A_ENST00000573001.1_Missense_Mutation_p.S5F|TNFRSF12A_ENST00000575124.1_Intron	NM_016639.2	NP_057723.1	Q9NP84	TNR12_HUMAN	tumor necrosis factor receptor superfamily, member 12A	54					angiogenesis|apoptosis	integral to membrane	receptor activity			lung(1)|skin(1)	2						GACTGCGCGTCTTGCAGGGCG	0.736		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	15	14			NA	NA	16		NA											NA				3071282		2182	4281	6463	SO:0001583	missense			AB035480	CCDS10489.1	16p13.3	2008-02-05			ENSG00000006327	ENSG00000006327	NA	51330		Tumor necrosis factor receptor superfamily, CD molecules	18152	protein-coding gene	gene with protein product		605914			NA	10751351, 10551889	Standard		NM_016639	NA	Approved	FN14, TweakR, CD266	uc002csv.4	Q9NP84	OTTHUMG00000129001	ENST00000326577.4:c.161C>T	16.37:g.3071282C>T	ENSP00000326737:p.Ser54Phe	NA	D3DUA6|Q9HCS0	37	CCDS10489.1	.	.	.	.	.	.	.	.	.	.	C	9.290	1.050320	0.19827	.	.	ENSG00000006327	ENST00000326577	.	.	.	4.76	3.81	0.43845	.	.	.	.	.	T	0.44286	0.1286	L	0.27053	0.805	0.80722	D	1	P	0.44946	0.846	P	0.46850	0.529	T	0.37291	-0.9712	8	0.54805	T	0.06	-7.165	9.1036	0.36685	0.0:0.8976:0.0:0.1024	.	54	Q9NP84	TNR12_HUMAN	F	54	.	ENSP00000326737:S54F	S	+	2	0	TNFRSF12A	3011283	0.707000	0.27866	0.682000	0.30024	0.219000	0.24729	2.992000	0.49417	1.003000	0.39130	0.561000	0.74099	TCT	TNFRSF12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250990.1		+	ENST00000326577.4	Missense_Mutation	SNP	16 : 3071282 - 3071282 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	143	29
TLK2	11011	broad.mit.edu	37	17	60685485	60685485	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60685485G>A	ENST00000582809.1	+	22	2311	c.1608G>A	c.(1606-1608)aaG>aaA	p.K536K	TLK2_ENST00000326270.9_Silent_p.K707K|TLK2_ENST00000346027.5_Silent_p.K685K|TLK2_ENST00000542523.1_Silent_p.K653K|TLK2_ENST00000343388.7_Silent_p.K653K			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	707	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						TCCCGCCAAAGCCAGTAGTAA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	74	74			NA	NA	17		NA											NA				60685485		2203	4300	6503	SO:0001819	synonymous_variant			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.1608G>A	17.37:g.60685485G>A		NA	D3DU07|Q9UKI7|Q9Y4F7	37																																																																																				TLK2-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000445133.1		+	ENST00000582809.1	Silent	SNP	17 : 60685485 - 60685485 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	254	38
CREB3L1	90993	broad.mit.edu	37	11	46342045	46342045	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46342045G>A	ENST00000529193.1	+	11	1940	c.1489G>A	c.(1489-1491)Gac>Aac	p.D497N	CREB3L1_ENST00000288400.3_Missense_Mutation_p.D497N			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	497					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		CACCAGCCCCGACTTCTCCCA	0.632		NA	T	FUS	myxofibrosarcoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(3;159 194 19597 26278 47995)		Dom	yes		11	11p11.2	90993	cAMP responsive element binding protein 3-like 1		M	0													26	33	31			NA	NA	11		NA											NA				46342045		2091	4177	6268	SO:0001583	missense				CCDS53620.1	11q11	2013-01-10				ENSG00000157613	90993	90993		basic leucine zipper proteins	18856	protein-coding gene	gene with protein product	BBF-2 homolog (drosophila)				NA		Standard	NM_052854	NM_052854	NA	Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.1489G>A	11.37:g.46342045G>A	ENSP00000434939:p.Asp497Asn	NA	Q8N2D5|Q96CP0	37	CCDS53620.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400389	0.25291	.	.	ENSG00000157613	ENST00000529193;ENST00000288400;ENST00000446415	T;T	0.63417	-0.04;-0.04	4.69	0.622	0.17648	.	0.410430	0.21415	N	0.074914	T	0.46092	0.1375	L	0.36672	1.1	0.21861	N	0.999502	B;B	0.18863	0.031;0.002	B;B	0.13407	0.009;0.001	T	0.26360	-1.0105	10	0.30854	T	0.27	5.5209	8.3401	0.32239	0.4625:0.0:0.5375:0.0	.	409;497	Q96BA8-2;Q96BA8	.;CR3L1_HUMAN	N	497;497;409	ENSP00000434939:D497N;ENSP00000288400:D497N	ENSP00000288400:D497N	D	+	1	0	CREB3L1	46298621	0.999000	0.42202	0.933000	0.37362	0.944000	0.59088	2.068000	0.41471	-0.156000	0.11079	0.430000	0.28490	GAC	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389702.1		+	ENST00000529193.1	Missense_Mutation	SNP	11 : 46342045 - 46342045 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	72	16
EFCAB6	64800	broad.mit.edu	37	22	43950755	43950755	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43950755G>A	ENST00000262726.7	-	27	3895	c.3642C>T	c.(3640-3642)gaC>gaT	p.D1214D	EFCAB6_ENST00000396231.2_Silent_p.D1062D|EFCAB6_ENST00000461800.1_5'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1214	EF-hand 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTACCTGTTCGTCCGTCAGGA	0.512		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	119	106	110		3642,3186	-6.4	0	22		110	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	EFCAB6	NM_022785.3,NM_198856.2	,	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	,	1214/1502,1062/1350	43950755	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976	64800	64800		EF-hand domain containing	24204	protein-coding gene	gene with protein product					NA	11258795, 12612053	Standard	NM_022785	NM_022785	NA	Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.3642C>T	22.37:g.43950755G>A		NA	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	37	CCDS14049.1																																																																																			EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353176.1		-	ENST00000262726.7	Silent	SNP	22 : 43950755 - 43950755 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	548	103
OAT	4942	broad.mit.edu	37	10	126100554	126100554	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:126100554C>A	ENST00000368845.5	-	2	279	c.187G>T	c.(187-189)Gag>Tag	p.E63*	OAT_ENST00000539214.1_Intron	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	63					cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)	TTTCCTCTCTCCAGGGCTACA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	109	111			NA	NA	10		NA											NA				126100554		2203	4300	6503	SO:0001587	stop_gained			BC016928	CCDS7639.1, CCDS53586.1	10q26	2014-09-17	2010-01-20		ENSG00000065154	ENSG00000065154	4942	4942	2.6.1.13		8091	protein-coding gene	gene with protein product	Ornithine aminotransferase, ornithine aminotransferase precursor, gyrate atrophy	613349			NA	1682785	Standard	NM_000274	NM_000274	NA	Approved	HOGA	uc001lhp.3	P04181	OTTHUMG00000019213	ENST00000368845.5:c.187G>T	10.37:g.126100554C>A	ENSP00000357838:p.Glu63*	NA	D3DRF0|Q16068|Q16069|Q6IAV9|Q9UD03	37	CCDS7639.1	.	.	.	.	.	.	.	.	.	.	C	36	5.787899	0.96945	.	.	ENSG00000065154	ENST00000368845	.	.	.	3.9	3.9	0.45041	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-3.0584	16.7883	0.85580	0.0:1.0:0.0:0.0	.	.	.	.	X	63	.	ENSP00000357838:E63X	E	-	1	0	OAT	126090544	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.478000	0.81082	2.115000	0.64714	0.555000	0.69702	GAG	OAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050863.1		-	ENST00000368845.5	Nonsense_Mutation	SNP	10 : 126100554 - 126100554 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	713	133
SLC35A3	23443	broad.mit.edu	37	1	100464905	100464905	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100464905G>T	ENST00000465289.1	+	3	668	c.276G>T	c.(274-276)ggG>ggT	p.G92G	SLC35A3_ENST00000370155.3_Silent_p.G92G|SLC35A3_ENST00000427993.2_Silent_p.G92G|SLC35A3_ENST00000370153.1_Silent_p.G134G|SLC35A3_ENST00000370156.3_3'UTR	NM_001271684.1	NP_001258613.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	92					UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity			biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		TTCCATCAGGGATCTATACTC	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(7;298 356 944 2149 6911)							NA				0													69	72	71			NA	NA	1		NA											NA				100464905		2202	4279	6481	SO:0001819	synonymous_variant			AB021981	CCDS762.1, CCDS60204.1, CCDS60205.1	1p21	2013-05-22			ENSG00000117620	ENSG00000117620	23443	23443		Solute carriers	11023	protein-coding gene	gene with protein product		605632	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3		NA	10393322	Standard	NM_012243	NM_001271685	NA	Approved		uc001dsr.2	Q9Y2D2	OTTHUMG00000010805	ENST00000465289.1:c.276G>T	1.37:g.100464905G>T		NA	A8K3F8|D3DT54|Q68CR2	37																																																																																				SLC35A3-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000029784.1		+	ENST00000465289.1	Silent	SNP	1 : 100464905 - 100464905 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	321	26
SAP130	79595	broad.mit.edu	37	2	128747261	128747261	+	Missense_Mutation	SNP	G	G	A	rs111795237		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128747261G>A	ENST00000259234.6	-	13	1843	c.1657C>T	c.(1657-1659)Cca>Tca	p.P553S	SAP130_ENST00000259235.3_Missense_Mutation_p.P579S|SAP130_ENST00000357702.5_Missense_Mutation_p.P579S			Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	579					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TGTATCCCTGGGGTCCCAATG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	108	110			NA	NA	2		NA											NA				128747261		2203	4300	6503	SO:0001583	missense			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715	79595	79595			29813	protein-coding gene	gene with protein product		609697	sin3A-associated protein, 130kDa		NA	11230166, 12724404	Standard	NM_024545	NM_001145928	NA	Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259234.6:c.1657C>T	2.37:g.128747261G>A	ENSP00000259234:p.Pro553Ser	NA	C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	37		.	.	.	.	.	.	.	.	.	.	G	14.41	2.526128	0.44969	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.56	4.67	0.58626	.	0.188036	0.52532	N	0.000062	T	0.30070	0.0753	N	0.08118	0	0.35563	D	0.804872	B;B;B;B;B	0.21309	0.023;0.0;0.001;0.054;0.004	B;B;B;B;B	0.20577	0.01;0.0;0.002;0.03;0.022	T	0.27020	-1.0086	9	0.08599	T	0.76	-3.5579	13.5288	0.61611	0.0762:0.0:0.9238:0.0	.	579;552;579;109;217	B7ZLM3;Q96DP1;Q9H0E3;Q9H0E3-2;B3KRT9	.;.;SP130_HUMAN;.;.	S	579;579;553	.	ENSP00000259234:P553S	P	-	1	0	SAP130	128463731	1.000000	0.71417	0.311000	0.25182	0.867000	0.49689	7.421000	0.80204	1.306000	0.44926	0.655000	0.94253	CCA	SAP130-002	KNOWN	alternative_5_UTR|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000254437.3		-	ENST00000259234.6	Missense_Mutation	SNP	2 : 128747261 - 128747261 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	525	68
CD44	960	broad.mit.edu	37	11	35250775	35250775	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:35250775A>T	ENST00000352818.4	+	8	918	c.918A>T	c.(916-918)gaA>gaT	p.E306D	CD44_ENST00000433892.2_Missense_Mutation_p.E459D|CD44_ENST00000434472.2_Missense_Mutation_p.E395D|CD44_ENST00000415148.2_Missense_Mutation_p.E665D|CD44_ENST00000433354.2_Missense_Mutation_p.E680D|CD44_ENST00000449691.2_Missense_Mutation_p.E665D|CD44_ENST00000360158.4_Missense_Mutation_p.E362D|CD44_ENST00000526669.2_Missense_Mutation_p.E172D|CD44_ENST00000263398.6_Missense_Mutation_p.E327D|CD44_ENST00000428726.2_Missense_Mutation_p.E708D|CD44_ENST00000437706.2_Missense_Mutation_p.E640D|CD44_ENST00000278386.6_Missense_Mutation_p.N121Y			P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	708	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	AGTCTCAGGAAATGGTGCATT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													182	170	174			NA	NA	11		NA											NA				35250775		2202	4298	6500	SO:0001583	missense			M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508	960	960		CD molecules, Blood group antigens, Proteoglycans / Cell surface : Other	1681	protein-coding gene	gene with protein product	hematopoietic cell E- and L-selectin ligand, chondroitin sulfate proteoglycan 8	107269	CD44 antigen (homing function and Indian blood group system)	MIC4, MDU2, MDU3	NA	2454887	Standard	NM_000610	NM_001202555	NA	Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000352818.4:c.918A>T	11.37:g.35250775A>T	ENSP00000309732:p.Glu306Asp	NA	A5YRN9|D3DR12|D3DR13|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	37	CCDS55755.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.4|20.4	3.989376|3.989376	0.74589|0.74589	.|.	.|.	ENSG00000026508|ENSG00000026508	ENST00000263398;ENST00000415148;ENST00000433354;ENST00000449691;ENST00000437706;ENST00000360158;ENST00000428726;ENST00000433892;ENST00000434472;ENST00000352818;ENST00000526669;ENST00000279452;ENST00000278385;ENST00000525469|ENST00000278386	T;T;T;T;T;T;T;T;T;T;T;T|T	0.56275|0.53423	1.47;1.41;1.64;1.37;1.88;1.54;1.46;1.21;1.02;1.6;0.82;0.47|0.62	5.93|5.93	0.878|0.878	0.19150|0.19150	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.56804|0.56804	0.2010|0.2010	M|M	0.80847|0.80847	2.515|2.515	0.27384|0.27384	N|N	0.955334|0.955334	D;D;D;B;D;D|P	0.89917|0.51791	1.0;0.998;0.996;0.013;1.0;0.994|0.948	D;D;D;B;D;D|P	0.85130|0.50659	0.997;0.997;0.995;0.018;0.996;0.97|0.647	T|T	0.52533|0.52533	-0.8563|-0.8563	10|9	0.87932|0.87932	D|D	0|0	-13.3682|-13.3682	8.8766|8.8766	0.35350|0.35350	0.5752:0.0:0.4248:0.0|0.5752:0.0:0.4248:0.0	.|.	306;395;327;459;665;708|121	B6EAT9;P16070-11;P16070-12;P16070-10;P16070-4;P16070|O95370	.;.;.;.;.;CD44_HUMAN|.	D|Y	327;665;680;665;640;362;708;459;395;306;151;256;227;48|121	ENSP00000263398:E327D;ENSP00000389830:E665D;ENSP00000414567:E680D;ENSP00000391008:E665D;ENSP00000403990:E640D;ENSP00000353280:E362D;ENSP00000398632:E708D;ENSP00000392331:E459D;ENSP00000404447:E395D;ENSP00000309732:E306D;ENSP00000279452:E256D;ENSP00000278385:E227D|ENSP00000278386:N121Y	ENSP00000263398:E327D|ENSP00000278386:N121Y	E|N	+|+	3|1	2|0	CD44|CD44	35207351|35207351	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	1.898000|1.898000	0.39809|0.39809	0.235000|0.235000	0.21160|0.21160	-0.250000|-0.250000	0.11733|0.11733	GAA|AAT	CD44-007	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388932.1		+	ENST00000352818.4	Missense_Mutation	SNP	11 : 35250775 - 35250775 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	659	121
HIST1H1T	3010	broad.mit.edu	37	6	26108109	26108109	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26108109G>A	ENST00000338379.4	-	1	255	c.213C>T	c.(211-213)gcC>gcT	p.A71A		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	71	H15.				cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						AGCCAGCAGCGGCCAATGCCT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	117	122			NA	NA	6		NA											NA				26108109		2203	4300	6503	SO:0001819	synonymous_variant			M60094	CCDS34349.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000187475	ENSG00000187475	3010	3010		Histones / Replication-dependent	4720	protein-coding gene	gene with protein product		142712	H1 histone family, member T (testis-specific), histone 1, H1t	H1FT	NA	8175896, 12408966	Standard	NM_005323	NM_005323	NA	Approved	H1t	uc003ngj.3	P22492	OTTHUMG00000014430	ENST00000338379.4:c.213C>T	6.37:g.26108109G>A		NA	Q6ISI1|Q8IUE8	37	CCDS34349.1																																																																																			HIST1H1T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040093.2		-	ENST00000338379.4	Silent	SNP	6 : 26108109 - 26108109 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	533	115
IFT172	26160	broad.mit.edu	37	2	27680845	27680845	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27680845T>C	ENST00000260570.3	-	28	3079		c.e28-2			NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	NA					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					ACATATAGCCTGGGGAAGGAG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	115	118			NA	NA	2		NA											NA				27680845		2203	4300	6503	SO:0001630	splice_region_variant			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002	26160	26160		Intraflagellar transport homologs, WD repeat domain containing	30391	protein-coding gene	gene with protein product	wimple homolog	607386	intraflagellar transport 172 homolog (Chlamydomonas)		NA	10788441, 10574461, 24140113	Standard	NM_015662	XM_005264254	NA	Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.2976-2A>G	2.37:g.27680845T>C		NA	B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	37	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.701772	0.48307	.	.	ENSG00000138002	ENST00000260570	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.467	0.75409	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	IFT172	27534349	1.000000	0.71417	0.990000	0.47175	0.378000	0.30076	7.447000	0.80620	2.330000	0.79161	0.533000	0.62120	.	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250213.2	Intron	-	ENST00000260570.3	Splice_Site	SNP	2 : 27680845 - 27680845 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	544	138
ITLN2	142683	broad.mit.edu	37	1	160914997	160914997	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160914997C>T	ENST00000368029.3	-	8	968	c.911G>A	c.(910-912)gGa>gAa	p.G304E	ITLN2_ENST00000494442.1_5'UTR|RP11-544M22.1_ENST00000356006.3_RNA	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	304					signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AACGTGAGTTCCATATCCATC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	65	69			NA	NA	1		NA											NA				160914997		2203	4300	6503	SO:0001583	missense			AY065973	CCDS1212.1	1q22-q23.5	2013-02-06			ENSG00000158764	ENSG00000158764	142683	142683		Fibrinogen C domain containing	20599	protein-coding gene	gene with protein product		609874			NA	11181563	Standard	NM_080878	NM_080878	NA	Approved	HL-2	uc001fxd.3	Q8WWU7	OTTHUMG00000028605	ENST00000368029.3:c.911G>A	1.37:g.160914997C>T	ENSP00000357008:p.Gly304Glu	NA	Q5VYI0	37	CCDS1212.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747339	0.69533	.	.	ENSG00000158764	ENST00000368029	T	0.20069	2.1	4.17	4.17	0.49024	.	0.000000	0.49305	U	0.000143	T	0.45796	0.1360	M	0.91038	3.17	0.45541	D	0.998496	D;D	0.76494	0.999;0.999	D;D	0.79784	0.984;0.993	T	0.58126	-0.7691	10	0.56958	D	0.05	-3.3575	14.3514	0.66705	0.0:1.0:0.0:0.0	.	303;304	A6NI51;Q8WWU7	.;ITLN2_HUMAN	E	304	ENSP00000357008:G304E	ENSP00000357008:G304E	G	-	2	0	ITLN2	159181621	0.999000	0.42202	0.986000	0.45419	0.492000	0.33523	2.695000	0.47043	2.014000	0.59158	0.555000	0.69702	GGA	ITLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071465.1		-	ENST00000368029.3	Missense_Mutation	SNP	1 : 160914997 - 160914997 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	257	53
PCDP1	0	broad.mit.edu	37	2	120362359	120362359	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120362359G>T	ENST00000413369.3	+	9	990	c.903G>T	c.(901-903)caG>caT	p.Q301H	PCDP1_ENST00000602047.1_Missense_Mutation_p.Q15H|PCDP1_ENST00000597189.1_3'UTR	NM_001271049.1	NP_001257978	Q4G0U5	PCDP1_HUMAN		301						cilium	calmodulin binding				NA	Colorectal(110;0.196)					CGAAGCCTCAGAAGGTGAAGG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	73	71			NA	NA	2		NA											NA				120362359		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000413369.3:c.903G>T	2.37:g.120362359G>T	ENSP00000393222:p.Gln301His	NA	B4DEK0|B4E2T5	37	CCDS33282.2	.	.	.	.	.	.	.	.	.	.	G	10.74	1.436252	0.25813	.	.	ENSG00000163075	ENST00000295220;ENST00000413369	T	0.20200	2.09	5.41	-1.3	0.09259	.	0.785958	0.11282	N	0.580161	T	0.13329	0.0323	L	0.34521	1.04	0.09310	N	1	B;B	0.20261	0.043;0.032	B;B	0.20955	0.032;0.013	T	0.27123	-1.0083	10	0.45353	T	0.12	-0.0024	4.6372	0.12530	0.4275:0.3016:0.2709:0.0	.	145;301	Q4G0U5-3;Q4G0U5	.;PCDP1_HUMAN	H	15;301	ENSP00000393222:Q301H	ENSP00000295220:Q15H	Q	+	3	2	AC069154.2	120078829	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.698000	0.01908	-0.360000	0.08138	-0.302000	0.09304	CAG	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464236.1		+	ENST00000413369.3	Missense_Mutation	SNP	2 : 120362359 - 120362359 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	126
LSAMP	4045	broad.mit.edu	37	3	115805293	115805293	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:115805293C>T	ENST00000490035.2	-	2	765	c.266G>A	c.(265-267)cGc>cAc	p.R89H	LSAMP_ENST00000539563.1_Missense_Mutation_p.R86H	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	NA	Ig-like C2-type 1.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CAGAGAATGGCGTTTCTCCAG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	110	114			NA	NA	3		NA											NA				115805293		2203	4300	6503	SO:0001583	missense			U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565	4045	4045		Immunoglobulin superfamily / I-set domain containing	6705	protein-coding gene	gene with protein product	IgLON family member 3	603241			NA	9615236	Standard	NM_002338	NM_002338	NA	Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.266G>A	3.37:g.115805293C>T	ENSP00000419000:p.Arg89His	NA	Q8IV49	37	CCDS2982.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164072	0.78339	.	.	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563;ENST00000474851	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.65	5.65	0.86999	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.053914	0.64402	D	0.000001	T	0.58061	0.2096	N	0.14661	0.345	0.46954	D	0.999262	D;B	0.54207	0.965;0.425	P;P	0.49922	0.615;0.626	T	0.59705	-0.7404	10	0.39692	T	0.17	-10.0134	13.7134	0.62682	0.1536:0.8463:0.0:0.0	.	89;89	B2RCU8;Q13449	.;LSAMP_HUMAN	H	73;89;86;123	ENSP00000328455:R73H;ENSP00000419000:R89H;ENSP00000443429:R86H;ENSP00000418506:R123H	ENSP00000328455:R73H	R	-	2	0	LSAMP	117287983	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	2.955000	0.49121	2.668000	0.90789	0.555000	0.69702	CGC	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354495.4		-	ENST00000490035.2	Missense_Mutation	SNP	3 : 115805293 - 115805293 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	217	50
NR2C1	7181	broad.mit.edu	37	12	95416132	95416132	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95416132G>T	ENST00000333003.5	-	14	2015	c.1685C>A	c.(1684-1686)gCt>gAt	p.A562D		NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	562					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						AGTGATGGTAGCATTCATCAG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													205	218	213			NA	NA	12		NA											NA				95416132		2203	4300	6503	SO:0001583	missense			M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798	7181	7181		Nuclear hormone receptors	7971	protein-coding gene	gene with protein product		601529		TR2	NA	2597158	Standard	NM_003297	NM_001032287	NA	Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.1685C>A	12.37:g.95416132G>T	ENSP00000333275:p.Ala562Asp	NA	A8K5K4|Q15625|Q15626	37	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.988099	0.53934	.	.	ENSG00000120798	ENST00000333003	D	0.96651	-4.08	5.74	4.85	0.62838	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.145103	0.64402	D	0.000008	D	0.97810	0.9281	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97793	1.0239	10	0.44086	T	0.13	.	14.9741	0.71257	0.0686:0.0:0.9314:0.0	.	562	P13056	NR2C1_HUMAN	D	562	ENSP00000333275:A562D	ENSP00000333275:A562D	A	-	2	0	NR2C1	93940263	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	9.869000	0.99810	1.443000	0.47586	-0.156000	0.13503	GCT	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407565.2		-	ENST00000333003.5	Missense_Mutation	SNP	12 : 95416132 - 95416132 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1213	194
NTMT1	28989	broad.mit.edu	37	9	132397705	132397705	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132397705G>A	ENST00000372486.1	+	4	983	c.634G>A	c.(634-636)Gat>Aat	p.D212N	NTMT1_ENST00000482347.1_Missense_Mutation_p.D124N|NTMT1_ENST00000372483.4_Missense_Mutation_p.D212N|NTMT1_ENST00000372481.3_3'UTR|NTMT1_ENST00000372480.1_Missense_Mutation_p.D212N					N-terminal Xaa-Pro-Lys N-methyltransferase 1	NA											NA						GAACCTCCCCGATGAGATCTA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	82	82			NA	NA	9		NA											NA				132397705		2203	4300	6503	SO:0001583	missense			AF110776	CCDS35160.1, CCDS69682.1, CCDS75918.1	9q34.2	2012-11-05	2012-06-12	2012-06-12	ENSG00000148335	ENSG00000148335	28989	28989	2.1.1.n5		23373	protein-coding gene	gene with protein product		613560	chromosome 9 open reading frame 32, methyltransferase like 11A	C9orf32, METTL11A	NA	20481588	Standard	NM_014064	XM_005251939	NA	Approved	AD-003, HOMT1A	uc004byd.1	Q9BV86	OTTHUMG00000020785	ENST00000372486.1:c.634G>A	9.37:g.132397705G>A	ENSP00000361564:p.Asp212Asn	NA		37	CCDS35160.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.624656	0.28889	.	.	ENSG00000148335	ENST00000372486;ENST00000372483;ENST00000372480	T;T;T	0.22336	1.96;1.96;1.96	5.01	5.01	0.66863	.	0.314836	0.33732	N	0.004606	T	0.19127	0.0459	L	0.40543	1.245	0.42916	D	0.994274	B	0.28783	0.222	B	0.14023	0.01	T	0.02797	-1.1109	10	0.46703	T	0.11	-25.7524	16.8907	0.86086	0.0:0.0:1.0:0.0	.	212	Q9BV86	NTM1A_HUMAN	N	212	ENSP00000361564:D212N;ENSP00000361561:D212N;ENSP00000361558:D212N	ENSP00000361558:D212N	D	+	1	0	METTL11A	131437526	1.000000	0.71417	0.053000	0.19242	0.166000	0.22503	4.104000	0.57790	2.325000	0.78763	0.549000	0.68633	GAT	NTMT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054589.1		+	ENST00000372486.1	Missense_Mutation	SNP	9 : 132397705 - 132397705 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	815	151
C19orf18	147685	broad.mit.edu	37	19	58477896	58477896	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58477896A>G	ENST00000314391.3	-	4	473		c.e4+1			NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	NA						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		GCAGATACTTACTATATCATA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	60	60			NA	NA	19		NA											NA				58477896		2203	4300	6503	SO:0001630	splice_region_variant			BC033933	CCDS12967.1	19q13.43	2013-03-11			ENSG00000177025	ENSG00000177025	147685	147685			28642	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152474	NM_152474	NA	Approved	MGC41906	uc002qqv.3	Q8NEA5	OTTHUMG00000183450	ENST00000314391.3:c.371+1T>C	19.37:g.58477896A>G		NA		37	CCDS12967.1	.	.	.	.	.	.	.	.	.	.	A	15.50	2.851034	0.51270	.	.	ENSG00000177025	ENST00000314391	.	.	.	4.1	4.1	0.47936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8207	0.40880	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C19orf18	63169708	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	3.327000	0.52045	2.078000	0.62432	0.524000	0.50904	.	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466704.1	Intron	-	ENST00000314391.3	Splice_Site	SNP	19 : 58477896 - 58477896 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	152	25
KDR	3791	broad.mit.edu	37	4	55987321	55987321	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55987321C>A	ENST00000263923.4	-	2	399	c.104G>T	c.(103-105)aGc>aTc	p.S35I		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	35					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TTTTTGTATGCTGAGCCTGGG	0.348		NA	Mis		NSCLC, angiosarcoma					TSP Lung(20;0.16)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0													129	133	132			NA	NA	4		NA											NA				55987321		2203	4300	6503	SO:0001583	missense			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	3791	3791	2.7.10.1	CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	6307	protein-coding gene	gene with protein product		191306			NA	1417831	Standard		NM_002253	NA	Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.104G>T	4.37:g.55987321C>A	ENSP00000263923:p.Ser35Ile	NA	O60723|Q14178	37	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476757	0.44044	.	.	ENSG00000128052	ENST00000263923	T	0.35236	1.32	5.83	4.99	0.66335	Immunoglobulin-like fold (1);	0.086710	0.85682	D	0.000000	T	0.59649	0.2209	M	0.76328	2.33	0.48185	D	0.9996	D;D	0.89917	1.0;0.997	D;P	0.87578	0.998;0.889	T	0.64158	-0.6473	10	0.72032	D	0.01	.	13.211	0.59825	0.0:0.9264:0.0:0.0736	.	35;35	P35968-2;P35968	.;VGFR2_HUMAN	I	35	ENSP00000263923:S35I	ENSP00000263923:S35I	S	-	2	0	KDR	55682078	1.000000	0.71417	0.987000	0.45799	0.320000	0.28249	2.945000	0.49043	1.478000	0.48253	-0.142000	0.14014	AGC	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250645.1		-	ENST00000263923.4	Missense_Mutation	SNP	4 : 55987321 - 55987321 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	74
ZHX3	23051	broad.mit.edu	37	20	39831542	39831542	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:39831542G>A	ENST00000309060.3	-	4	2430	c.2015C>T	c.(2014-2016)aCc>aTc	p.T672I	ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Missense_Mutation_p.T672I|ZHX3_ENST00000559234.1_Missense_Mutation_p.T672I|ZHX3_ENST00000560361.1_Missense_Mutation_p.T672I|ZHX3_ENST00000540170.1_Missense_Mutation_p.T672I|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000432768.2_Missense_Mutation_p.T672I			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	672					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T672S(1)		endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				AGCCTTCTTGGTCTCCTCAGC	0.507		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)											142	143	143			NA	NA	20		NA											NA				39831542		2203	4300	6503	SO:0001583	missense			AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306	23051	23051		Zinc fingers, C2H2-type, Homeoboxes / ZF class	15935	protein-coding gene	gene with protein product		609598	triple homeobox 1	TIX1	NA	9455477	Standard	NM_015035	XM_005260343	NA	Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.2015C>T	20.37:g.39831542G>A	ENSP00000312222:p.Thr672Ile	NA	E1P5W5|O43145	37	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	G	6.876	0.531051	0.13127	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262	T;T;T	0.12361	2.9;2.9;2.69	6.06	2.72	0.32119	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.475365	0.24182	N	0.040793	T	0.08802	0.0218	L	0.36672	1.1	0.19945	N	0.999941	B;B;P	0.36753	0.242;0.242;0.568	B;B;B	0.35655	0.065;0.071;0.207	T	0.19289	-1.0310	10	0.36615	T	0.2	-7.5284	2.984	0.05962	0.0838:0.2223:0.3897:0.3042	.	672;672;672	A8K8Q0;Q9H4I2;F5H820	.;ZHX3_HUMAN;.	I	672;672;672;672;450	ENSP00000362360:T672I;ENSP00000442290:T672I;ENSP00000443783:T672I	ENSP00000312222:T672I	T	-	2	0	ZHX3	39264956	1.000000	0.71417	0.394000	0.26270	0.714000	0.41099	2.894000	0.48640	0.832000	0.34804	0.650000	0.86243	ACC	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079262.3		-	ENST00000309060.3	Missense_Mutation	SNP	20 : 39831542 - 39831542 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1170	105
PAX7	5081	broad.mit.edu	37	1	19018338	19018338	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19018338C>T	ENST00000420770.2	+	5	760	c.677C>T	c.(676-678)gCc>gTc	p.A226V	PAX7_ENST00000400661.3_Missense_Mutation_p.A224V|PAX7_ENST00000375375.3_Missense_Mutation_p.A226V	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	226					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		ACATTCACGGCCGAGCAGCTG	0.637		NA	T	FOXO1A	alveolar rhabdomyosarcoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1p36.2-p36.12	5081	paired box gene 7		M	0													43	37	39			NA	NA	1		NA											NA				19018338		2202	4300	6502	SO:0001583	missense			X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709	5081	5081		Paired boxes, Homeoboxes / PRD class	8621	protein-coding gene	gene with protein product		167410	paired box gene 7		NA	7981748, 8431641	Standard	NM_002584	NM_001135254	NA	Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000420770.2:c.677C>T	1.37:g.19018338C>T	ENSP00000403389:p.Ala226Val	NA	Q0VA99	37	CCDS44074.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780423	0.70222	.	.	ENSG00000009709	ENST00000375375;ENST00000420770;ENST00000400661	D;D;D	0.95656	-3.77;-3.77;-3.77	4.98	4.07	0.47477	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.112115	0.64402	D	0.000012	D	0.92922	0.7748	L	0.37897	1.145	0.80722	D	1	P;P;B	0.47762	0.571;0.9;0.151	P;P;B	0.45660	0.489;0.477;0.192	D	0.92496	0.6004	10	0.72032	D	0.01	.	12.0368	0.53429	0.0:0.9151:0.0:0.0849	.	226;224;226	E9PFV9;P23759-2;P23759	.;.;PAX7_HUMAN	V	226;226;224	ENSP00000364524:A226V;ENSP00000403389:A226V;ENSP00000383502:A224V	ENSP00000364524:A226V	A	+	2	0	PAX7	18890925	1.000000	0.71417	0.997000	0.53966	0.948000	0.59901	7.783000	0.85696	1.104000	0.41587	-0.136000	0.14681	GCC	PAX7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372482.1		+	ENST00000420770.2	Missense_Mutation	SNP	1 : 19018338 - 19018338 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	141	16
LEFTY2	7044	broad.mit.edu	37	1	226128787	226128787	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226128787G>A	ENST00000366820.5	-	1	402	c.54C>T	c.(52-54)ccC>ccT	p.P18P	LEFTY2_ENST00000420304.2_Silent_p.P18P	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	18					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					GGGCCGCCCCGGGGCCAGCCA	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(172;116 2643 9098 43333)							NA				0								G	,	1,4325		0,1,2162	8	10	9		54,54	-9.9	0	1		9	0,8468		0,0,4234	no	coding-synonymous,coding-synonymous	LEFTY2	NM_001172425.1,NM_003240.3	,	0,1,6396	AA,AG,GG	NA	0.0,0.0231,0.0078	,	18/333,18/367	226128787	1,12793	2163	4234	6397	SO:0001819	synonymous_variant			U81523	CCDS1549.1, CCDS53479.1	1q42.1	2008-07-18	2004-11-17	2004-11-17	ENSG00000143768	ENSG00000143768	7044	7044			3122	protein-coding gene	gene with protein product	transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)	601877	endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily)	TGFB4, EBAF	NA	9153275	Standard	NM_003240	NM_001172425	NA	Approved	LEFTA, LEFTYA	uc001hpt.2	O00292	OTTHUMG00000037441	ENST00000366820.5:c.54C>T	1.37:g.226128787G>A		NA	B3KNH4|O75611|Q5TE89|Q8NBQ9	37	CCDS1549.1																																																																																			LEFTY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091152.1		-	ENST00000366820.5	Silent	SNP	1 : 226128787 - 226128787 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	121	35
PWP2	5822	broad.mit.edu	37	21	45533719	45533719	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45533719G>A	ENST00000291576.7	+	3	344	c.217G>A	c.(217-219)Gtc>Atc	p.V73I		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	73						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		CGCTATCATCGTCGATGAAGG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	50	53			NA	NA	21		NA											NA				45533719		2202	4300	6502	SO:0001583	missense				CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945	5822	5822		WD repeat domain containing	9711	protein-coding gene	gene with protein product		601475	PWP2 (periodic tryptophan protein, yeast) homolog	PWP2H	NA	8893822	Standard	NM_005049	NM_005049	NA	Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.217G>A	21.37:g.45533719G>A	ENSP00000291576:p.Val73Ile	NA	B2RAG8|Q96A77	37	CCDS33579.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.938033	0.34189	.	.	ENSG00000241945	ENST00000291576;ENST00000456705	T;T	0.42513	0.97;1.49	4.33	3.16	0.36331	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.165612	0.40818	N	0.001018	T	0.26919	0.0659	L	0.31065	0.9	0.36215	D	0.851596	B	0.22003	0.063	B	0.12837	0.008	T	0.20140	-1.0284	10	0.25106	T	0.35	0.0094	9.1753	0.37107	0.1912:0.0:0.8088:0.0	.	73	Q15269	PWP2_HUMAN	I	73	ENSP00000291576:V73I;ENSP00000411749:V73I	ENSP00000291576:V73I	V	+	1	0	PWP2	44358147	0.940000	0.31905	0.996000	0.52242	0.039000	0.13416	1.504000	0.35726	2.148000	0.66965	0.313000	0.20887	GTC	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195736.3		+	ENST00000291576.7	Missense_Mutation	SNP	21 : 45533719 - 45533719 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	214	37
TUB	7275	broad.mit.edu	37	11	8118259	8118259	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8118259A>C	ENST00000305253.4	+	7	999	c.758A>C	c.(757-759)gAg>gCg	p.E253A	TUB_ENST00000299506.2_Missense_Mutation_p.E198A|TUB_ENST00000534099.1_Missense_Mutation_p.E204A	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	198					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		AGCTTTGACGAGGATGAGGAG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	78	81			NA	NA	11		NA											NA				8118259		2201	4296	6497	SO:0001583	missense			U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402	7275	7275			12406	protein-coding gene	gene with protein product		601197	tubby (mouse) homolog, tubby homolog (mouse)		NA	8612280	Standard	NM_003320	NM_003320	NA	Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000305253.4:c.758A>C	11.37:g.8118259A>C	ENSP00000305426:p.Glu253Ala	NA	D3DQU4|O00293|Q6B007	37	CCDS7786.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.980035	0.53827	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.86769	-2.15;-2.17;-2.14	4.77	4.77	0.60923	.	0.098549	0.64402	D	0.000002	D	0.84759	0.5543	L	0.59436	1.845	0.80722	D	1	P;P;P	0.42941	0.74;0.524;0.794	B;B;B	0.39805	0.214;0.095;0.31	D	0.84937	0.0863	10	0.39692	T	0.17	-6.0846	14.5629	0.68153	1.0:0.0:0.0:0.0	.	204;198;253	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	A	204;253;198	ENSP00000434400:E204A;ENSP00000305426:E253A;ENSP00000299506:E198A	ENSP00000299506:E198A	E	+	2	0	TUB	8074835	1.000000	0.71417	0.987000	0.45799	0.671000	0.39405	8.654000	0.91092	1.906000	0.55180	0.402000	0.26972	GAG	TUB-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385822.1		+	ENST00000305253.4	Missense_Mutation	SNP	11 : 8118259 - 8118259 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	358	63
PPAN-P2RY11	692312	broad.mit.edu	37	19	10225213	10225213	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10225213C>T	ENST00000428358.1	+	0	2418				P2RY11_ENST00000321826.4_Silent_p.G308G|PPAN-P2RY11_ENST00000393796.4_Silent_p.G728G|PPAN_ENST00000556468.1_Silent_p.G728G	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN	PPAN-P2RY11 readthrough	NA					RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			TGATGCGGGGCCTCATGCCCC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	47	45			NA	NA	19		NA											NA				10225213		2203	4300	6503	SO:0001624	3_prime_UTR_variant			AJ300588	CCDS42498.1, CCDS56082.1	19p13.2	2009-09-17			ENSG00000243207	ENSG00000243207	692312	692312			33526	other	readthrough					NA		Standard	NM_001040664	NM_001040664	NA	Approved		uc002mna.3		OTTHUMG00000150165	ENST00000428358.1:c.*683C>T	19.37:g.10225213C>T		NA	Q9BW97|Q9H170	37	CCDS56082.1																																																																																			PPAN-P2RY11-002	NOVEL	basic|readthrough_transcript|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345524.1		+	ENST00000428358.1	3'UTR	SNP	19 : 10225213 - 10225213 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	364	70
TBC1D15	64786	broad.mit.edu	37	12	72300817	72300817	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72300817G>A	ENST00000550746.1	+	12	1314	c.1250G>A	c.(1249-1251)aGa>aAa	p.R417K	TBC1D15_ENST00000485960.2_Missense_Mutation_p.R400K|TBC1D15_ENST00000548679.1_3'UTR|TBC1D15_ENST00000393309.3_Missense_Mutation_p.R171K|TBC1D15_ENST00000319106.8_Missense_Mutation_p.R408K	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	417	Rab-GAP TBC.						protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GATGTTAACAGAACAGATCGA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	135	142			NA	NA	12		NA											NA				72300817		2201	4298	6499	SO:0001583	missense			AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749	64786	64786			25694	protein-coding gene	gene with protein product		612662			NA	16055087	Standard	NM_022771	NM_022771	NA	Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.1250G>A	12.37:g.72300817G>A	ENSP00000448182:p.Arg417Lys	NA	B9A6L6|Q9HA83	37	CCDS31858.1	.	.	.	.	.	.	.	.	.	.	G	33	5.263479	0.95399	.	.	ENSG00000121749	ENST00000550746;ENST00000319106;ENST00000485960;ENST00000393309	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.19	5.19	0.71726	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.72977	0.3528	H	0.98466	4.24	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.997	D;D;D	0.80764	0.994;0.99;0.992	D	0.85054	0.0930	10	0.87932	D	0	-16.0406	18.7218	0.91698	0.0:0.0:1.0:0.0	.	408;400;417	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	K	417;408;400;171	ENSP00000448182:R417K;ENSP00000318262:R408K;ENSP00000420678:R400K;ENSP00000376986:R171K	ENSP00000318262:R408K	R	+	2	0	TBC1D15	70587084	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.416000	0.81992	0.650000	0.86243	AGA	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351266.2		+	ENST00000550746.1	Missense_Mutation	SNP	12 : 72300817 - 72300817 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	130	25
SIGIRR	59307	broad.mit.edu	37	11	407518	407518	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:407518G>A	ENST00000431843.2	-	6	838	c.532C>T	c.(532-534)Cgc>Tgc	p.R178C	SIGIRR_ENST00000531205.1_Missense_Mutation_p.R178C|SIGIRR_ENST00000332725.3_Missense_Mutation_p.R178C|SIGIRR_ENST00000382520.2_Missense_Mutation_p.R178C|SIGIRR_ENST00000529486.1_5'UTR|SIGIRR_ENST00000397632.3_Missense_Mutation_p.R178C	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	178	TIR.				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACGAACTTGCGGTCCTCGGGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	27	27			NA	NA	11		NA											NA				407518		2188	4290	6478	SO:0001583	missense				CCDS31325.1	11p15.5	2013-01-11	2005-10-10				59307	59307		Immunoglobulin superfamily / Immunoglobulin-like domain containing	30575	protein-coding gene	gene with protein product	single immunoglobulin domain IL1R1 related	605478			NA	10346978	Standard	NM_021805	NM_021805	NA	Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.532C>T	11.37:g.407518G>A	ENSP00000403104:p.Arg178Cys	NA	Q3KQY2|Q6UXI3|Q9H733	37	CCDS31325.1	.	.	.	.	.	.	.	.	.	.	g	15.16	2.751638	0.49362	.	.	ENSG00000185187	ENST00000431843;ENST00000397632;ENST00000332725;ENST00000531205;ENST00000382520;ENST00000528209;ENST00000530494	T;T;T;T;T;T	0.10288	2.89;2.89;2.89;2.89;2.89;2.89	2.75	1.81	0.25067	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.072087	0.56097	D	0.000036	T	0.25344	0.0616	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.986	T	0.01078	-1.1459	10	0.87932	D	0	.	9.1772	0.37118	0.0:0.0:0.6093:0.3907	.	178;178	C9JFX4;Q6IA17	.;SIGIR_HUMAN	C	178;178;178;178;178;74;122	ENSP00000403104:R178C;ENSP00000380756:R178C;ENSP00000333656:R178C;ENSP00000433022:R178C;ENSP00000371960:R178C;ENSP00000435135:R74C	ENSP00000333656:R178C	R	-	1	0	SIGIRR	397518	1.000000	0.71417	1.000000	0.80357	0.210000	0.24377	1.303000	0.33470	0.725000	0.32318	0.289000	0.19496	CGC	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383884.3		-	ENST00000431843.2	Missense_Mutation	SNP	11 : 407518 - 407518 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	89	12
DHRS1	115817	broad.mit.edu	37	14	24768170	24768170	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24768170G>A	ENST00000288111.7	-	2	419	c.143C>T	c.(142-144)gCt>gTt	p.A48V	DHRS1_ENST00000396813.1_Missense_Mutation_p.A48V	NM_001136050.2	NP_001129522.1	Q96LJ7	DHRS1_HUMAN	dehydrogenase/reductase (SDR family) member 1	48						endoplasmic reticulum	binding|oxidoreductase activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		CACCTCCTGAGCAACAACGCG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	57	58			NA	NA	14		NA											NA				24768170		2203	4300	6503	SO:0001583	missense			AK058159	CCDS9623.1	14q11.2	2011-09-14			ENSG00000157379	ENSG00000157379	115817	115817	1.1.-.-	Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1	16445	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 19C, member 1	610410			NA	12153138, 19027726	Standard	NM_138452	NM_138452	NA	Approved	FLJ25430, MGC20204, SDR19C1	uc001wok.3	Q96LJ7	OTTHUMG00000029333	ENST00000288111.7:c.143C>T	14.37:g.24768170G>A	ENSP00000288111:p.Ala48Val	NA	D3DS71|Q8NDG3|Q96B59|Q96CQ5	37	CCDS9623.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781515	0.90282	.	.	ENSG00000157379	ENST00000288111;ENST00000396813	D;D	0.87179	-2.22;-2.22	5.15	5.15	0.70609	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.83422	0.5251	N	0.21194	0.64	0.80722	D	1	P	0.39717	0.684	P	0.45712	0.491	D	0.84989	0.0893	10	0.62326	D	0.03	-11.7277	13.9863	0.64337	0.0:0.0:1.0:0.0	.	48	Q96LJ7	DHRS1_HUMAN	V	48	ENSP00000288111:A48V;ENSP00000380027:A48V	ENSP00000288111:A48V	A	-	2	0	DHRS1	23838010	1.000000	0.71417	0.934000	0.37439	0.792000	0.44763	6.199000	0.72112	2.675000	0.91044	0.655000	0.94253	GCT	DHRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000073168.4		-	ENST00000288111.7	Missense_Mutation	SNP	14 : 24768170 - 24768170 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	43
HGSNAT	138050	broad.mit.edu	37	8	43033296	43033296	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:43033296C>T	ENST00000379644.4	+	10	973	c.931C>T	c.(931-933)Ctg>Ttg	p.L311L	HGSNAT_ENST00000458501.2_Silent_p.L339L	NM_152419.2	NP_689632.2	Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	339			P -> L (in MPS3C; results in a negligible amount of protein synthesis and very low enzyme activity; retained in the endoplasmic reticulum).		lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			ATTCAGATTGCTGGGGAAGAT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													204	196	199			NA	NA	8		NA											NA				43033296		1830	4079	5909	SO:0001819	synonymous_variant				CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	138050	138050	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	transmembrane protein 76	TMEM76	NA	17033958, 16960811	Standard	XM_372038	NM_152419	NA	Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000379644.4:c.931C>T	8.37:g.43033296C>T		NA	B4E2V0	37	CCDS47852.1	.	.	.	.	.	.	.	.	.	.	C	8.619	0.890869	0.17613	.	.	ENSG00000165102	ENST00000524016	.	.	.	5.68	1.82	0.25136	.	.	.	.	.	T	0.53238	0.1784	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39482	-0.9612	4	.	.	.	-2.0712	5.6173	0.17438	0.2789:0.57:0.0:0.1511	.	.	.	.	V	12	.	.	A	+	2	0	HGSNAT	43152453	1.000000	0.71417	0.531000	0.27976	0.919000	0.55068	1.133000	0.31430	0.057000	0.16193	-0.142000	0.14014	GCT	HGSNAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377293.1		+	ENST00000379644.4	Silent	SNP	8 : 43033296 - 43033296 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	648	137
KIAA0907	22889	broad.mit.edu	37	1	155891297	155891297	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155891297C>A	ENST00000368320.3	-	10	1160	c.1135G>T	c.(1135-1137)Gga>Tga	p.G379*	KIAA0907_ENST00000368321.3_Nonsense_Mutation_p.G379*|KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368319.3_Missense_Mutation_p.R345L			Q7Z7F0	K0907_HUMAN	KIAA0907	379	Pro-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CTTGGTACTCCGTAGGGAGGT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	108	112			NA	NA	1		NA											NA				155891297		2203	4300	6503	SO:0001587	stop_gained			BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680	22889	22889			29145	protein-coding gene	gene with protein product					NA	10048485	Standard	NM_014949	NM_014949	NA	Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368320.3:c.1135G>T	1.37:g.155891297C>A	ENSP00000357303:p.Gly379*	NA	O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.5|29.5	5.014091|5.014091	0.93404|0.93404	.|.	.|.	ENSG00000132680|ENSG00000132680	ENST00000368321;ENST00000368320|ENST00000368319	.|.	.|.	.|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.241207|.	0.42548|.	D|.	0.000698|.	.|T	.|0.17789	.|0.0427	.|.	.|.	.|.	0.19300|0.19300	N|N	0.999979|0.999979	.|B	.|0.10296	.|0.003	.|B	.|0.17433	.|0.018	.|T	.|0.07065	.|-1.0792	.|7	0.44086|0.12103	T|T	0.13|0.63	-8.6237|-8.6237	19.2427|19.2427	0.93889|0.93889	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|345	.|Q7Z7F0-3	.|.	X|L	379|345	.|.	ENSP00000357303:G379X|ENSP00000357302:R345L	G|R	-|-	1|2	0|0	KIAA0907|KIAA0907	154157921|154157921	0.994000|0.994000	0.37717|0.37717	0.998000|0.998000	0.56505|0.56505	0.986000|0.986000	0.74619|0.74619	3.274000|3.274000	0.51631|0.51631	2.644000|2.644000	0.89710|0.89710	0.491000|0.491000	0.48974|0.48974	GGA|CGG	KIAA0907-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000039585.1		-	ENST00000368320.3	Nonsense_Mutation	SNP	1 : 155891297 - 155891297 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	419	66
CEP89	84902	broad.mit.edu	37	19	33370081	33370081	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33370081G>A	ENST00000305768.5	-	19	2427	c.2339C>T	c.(2338-2340)gCc>gTc	p.A780V		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	NA						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						GCAGGTGGGGGCATGAGACTT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	65	66			NA	NA	19		NA											NA				33370081		2203	4300	6503	SO:0001583	missense			AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289	84902	84902			25907	protein-coding gene	gene with protein product		615470	coiled-coil domain containing 123	CCDC123	NA	16395595	Standard	NM_032816	NM_032816	NA	Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.2339C>T	19.37:g.33370081G>A	ENSP00000306105:p.Ala780Val	NA	B9EGA6|Q8N5J8	37	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632411	0.46944	.	.	ENSG00000121289	ENST00000305768	T	0.34275	1.37	4.75	3.71	0.42584	.	0.119066	0.37577	N	0.002028	T	0.30166	0.0756	L	0.44542	1.39	0.25202	N	0.99004	B	0.14012	0.009	B	0.10450	0.005	T	0.27468	-1.0073	10	0.62326	D	0.03	0.0729	10.3175	0.43745	0.0948:0.0:0.9052:0.0	.	780	Q96ST8	CEP89_HUMAN	V	780	ENSP00000306105:A780V	ENSP00000306105:A780V	A	-	2	0	CEP89	38061921	0.104000	0.21937	0.001000	0.08648	0.003000	0.03518	3.337000	0.52120	1.132000	0.42129	0.462000	0.41574	GCC	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451300.2		-	ENST00000305768.5	Missense_Mutation	SNP	19 : 33370081 - 33370081 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	455	13
FNTA	2339	broad.mit.edu	37	8	42940355	42940355	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42940355G>A	ENST00000529687.1	+	9	1505	c.617G>A	c.(616-618)aGa>aAa	p.R206K	FNTA_ENST00000342116.4_Missense_Mutation_p.R290K|FNTA_ENST00000302279.3_Missense_Mutation_p.R357K			P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	357					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			GAATATTGGAGATACATTGGA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	73	77			NA	NA	8		NA											NA				42940355		2203	4300	6503	SO:0001583	missense			L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522	2339	2339		Prenyltransferase alpha subunit repeat containing	3782	protein-coding gene	gene with protein product	protein prenyltransferase alpha subunit repeat containing 2	134635			NA	8276393	Standard	NM_002027	NR_033698	NA	Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000529687.1:c.617G>A	8.37:g.42940355G>A	ENSP00000473479:p.Arg206Lys	NA	A6NJW0|Q53XJ9|Q9UDC1	37		.	.	.	.	.	.	.	.	.	.	G	11.47	1.647865	0.29336	.	.	ENSG00000168522	ENST00000302279;ENST00000342116	.	.	.	5.7	5.7	0.88788	Protein prenyltransferase (1);	0.232665	0.46442	D	0.000291	T	0.50633	0.1627	L	0.29908	0.895	0.40310	D	0.978701	B;B;B	0.17465	0.022;0.0;0.001	B;B;B	0.13407	0.009;0.001;0.004	T	0.45041	-0.9288	9	0.15499	T	0.54	-12.7797	17.3299	0.87259	0.0:0.0:1.0:0.0	.	290;266;357	P49354-2;A8MVX8;P49354	.;.;FNTA_HUMAN	K	357;290	.	ENSP00000303423:R357K	R	+	2	0	FNTA	43059512	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	2.917000	0.48821	2.703000	0.92315	0.650000	0.86243	AGA	FNTA-004	PUTATIVE	NMD_exception|non_canonical_TEC|basic	protein_coding	NA	protein_coding	OTTHUMT00000383247.2		+	ENST00000529687.1	Missense_Mutation	SNP	8 : 42940355 - 42940355 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	261	41
DUS3L	56931	broad.mit.edu	37	19	5789522	5789522	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5789522C>T	ENST00000309061.7	-	3	692	c.596G>A	c.(595-597)cGc>cAc	p.R199H	DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	199					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CTGGGTCCCGCGGGCCGCCAA	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													9	13	12			NA	NA	19		NA											NA				5789522		2171	4259	6430	SO:0001583	missense				CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994	56931	56931			26920	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_020175	NM_020175	NA	Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.596G>A	19.37:g.5789522C>T	ENSP00000311977:p.Arg199His	NA	Q96HM5|Q9BSU4|Q9H877|Q9NPR1	37	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	C	4.977	0.181424	0.09495	.	.	ENSG00000141994	ENST00000309061	T	0.18174	2.23	3.46	-0.567	0.11763	.	0.476605	0.20383	N	0.093420	T	0.07098	0.0180	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.27157	-1.0082	10	0.39692	T	0.17	-30.0716	6.8336	0.23923	0.0:0.3103:0.0:0.6897	.	199	Q96G46	DUS3L_HUMAN	H	199	ENSP00000311977:R199H	ENSP00000311977:R199H	R	-	2	0	DUS3L	5740522	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.723000	0.04952	-0.333000	0.08476	0.491000	0.48974	CGC	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451870.2		-	ENST00000309061.7	Missense_Mutation	SNP	19 : 5789522 - 5789522 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	126	19
AKT1	207	broad.mit.edu	37	14	105242041	105242041	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105242041T>C	ENST00000554581.1	-	4	1863	c.383A>G	c.(382-384)aAc>aGc	p.N128S	AKT1_ENST00000544168.1_Missense_Mutation_p.N66S|AKT1_ENST00000555528.1_Missense_Mutation_p.N128S|AKT1_ENST00000349310.3_Missense_Mutation_p.N128S|AKT1_ENST00000402615.2_Missense_Mutation_p.N128S|AKT1_ENST00000554848.1_Missense_Mutation_p.N128S|AKT1_ENST00000407796.2_Missense_Mutation_p.N128S			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	128					activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	AGCCCCTGAGTTGTCACTGGG	0.637		1	Mis		breast, colorectal, ovarian, NSCLC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		14	14q32.32	207	v-akt murine thymoma viral oncogene homolog 1		E	0													146	109	121			NA	NA	14		NA											NA				105242041		2203	4300	6503	SO:0001583	missense			M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	207	207	2.7.11.1	Pleckstrin homology (PH) domain containing	391	protein-coding gene	gene with protein product		164730			NA		Standard	NM_005163	XM_005267401	NA	Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.383A>G	14.37:g.105242041T>C	ENSP00000451828:p.Asn128Ser	NA	B2RAM5|Q9BWB6	37	CCDS9994.1	.	.	.	.	.	.	.	.	.	.	T	8.764	0.924363	0.18056	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000544168;ENST00000554848;ENST00000555380	T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	3.9	3.9	0.45041	.	0.000000	0.64402	D	0.000007	T	0.18635	0.0447	N	0.04508	-0.205	0.41335	D	0.987261	B	0.02656	0.0	B	0.04013	0.001	T	0.09684	-1.0663	10	0.06494	T	0.89	.	12.8618	0.57918	0.0:0.0:0.0:1.0	.	128	P31749	AKT1_HUMAN	S	128;128;128;128;128;66;128;66	ENSP00000451828:N128S;ENSP00000384293:N128S;ENSP00000270202:N128S;ENSP00000385326:N128S;ENSP00000450688:N128S;ENSP00000443897:N66S;ENSP00000451166:N128S;ENSP00000451290:N66S	ENSP00000270202:N128S	N	-	2	0	AKT1	104313086	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	0.828000	0.27435	1.626000	0.50381	0.368000	0.22195	AAC	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410418.1		-	ENST00000554581.1	Missense_Mutation	SNP	14 : 105242041 - 105242041 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	470	19
NR1I3	9970	broad.mit.edu	37	1	161201197	161201197	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161201197G>A	ENST00000515621.1	-	6	638	c.391C>T	c.(391-393)Ctc>Ttc	p.L131F	NR1I3_ENST00000428574.2_Missense_Mutation_p.L206F|NR1I3_ENST00000412844.2_Missense_Mutation_p.L177F|NR1I3_ENST00000508740.1_Missense_Mutation_p.L177F|NR1I3_ENST00000506209.1_Missense_Mutation_p.L177F|NR1I3_ENST00000515452.1_Missense_Mutation_p.L206F|NR1I3_ENST00000367983.4_Missense_Mutation_p.L206F|NR1I3_ENST00000367981.3_Missense_Mutation_p.L177F|NR1I3_ENST00000511676.1_Missense_Mutation_p.L177F|NR1I3_ENST00000511748.1_Silent_p.Y73Y|NR1I3_ENST00000508387.1_Silent_p.Y73Y|NR1I3_ENST00000437437.2_Missense_Mutation_p.L177F|NR1I3_ENST00000442691.2_Missense_Mutation_p.L206F|NR1I3_ENST00000504010.1_Missense_Mutation_p.L177F|NR1I3_ENST00000505005.1_Missense_Mutation_p.L206F|NR1I3_ENST00000367980.2_Missense_Mutation_p.L206F|NR1I3_ENST00000367985.3_Missense_Mutation_p.L206F|NR1I3_ENST00000367982.4_Missense_Mutation_p.L206F|NR1I3_ENST00000512372.1_Missense_Mutation_p.L177F|NR1I3_ENST00000511944.1_Silent_p.Y102Y|NR1I3_ENST00000502985.1_Silent_p.Y102Y|NR1I3_ENST00000367979.2_Missense_Mutation_p.L206F|NR1I3_ENST00000367984.4_Missense_Mutation_p.L206F			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	206					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GTGGTATTGAGTACGATGTGA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	136	138			NA	NA	1		NA											NA				161201197		2203	4300	6503	SO:0001583	missense			Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257	NA	9970		Nuclear hormone receptors	7969	protein-coding gene	gene with protein product	constitutive androstane receptor	603881			NA	8114692	Standard		NM_001077480	NA	Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000515621.1:c.391C>T	1.37:g.161201197G>A	ENSP00000421588:p.Leu131Phe	NA	Q5VTW5|Q5VTW6	37		.	.	.	.	.	.	.	.	.	.	G	0.043	-1.277226	0.01410	.	.	ENSG00000143257	ENST00000512372;ENST00000367983;ENST00000367980;ENST00000437437;ENST00000442691;ENST00000412844;ENST00000428574;ENST00000505005;ENST00000508740;ENST00000367982;ENST00000504010;ENST00000511676;ENST00000367981;ENST00000515621;ENST00000367984;ENST00000367985;ENST00000367979;ENST00000506209;ENST00000515452	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.95412	-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7	5.73	2.7	0.31948	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.213818	0.49305	N	0.000146	D	0.91848	0.7420	N	0.21508	0.67	0.36247	D	0.853640	B;B;D;B;P;B;P;B;D;B;B;B;D;B;B;P;P;D	0.89917	0.107;0.075;1.0;0.01;0.462;0.01;0.752;0.019;1.0;0.12;0.082;0.101;1.0;0.019;0.143;0.572;0.758;1.0	B;B;D;B;B;B;B;B;D;B;B;B;D;B;B;B;B;D	0.97110	0.103;0.055;1.0;0.016;0.115;0.011;0.333;0.033;1.0;0.161;0.048;0.048;1.0;0.033;0.035;0.186;0.285;0.999	D	0.88290	0.2942	9	0.16420	T	0.52	.	11.6402	0.51228	0.0:0.0:0.5307:0.4693	.	206;177;177;206;206;206;206;206;206;206;131;177;177;177;177;177;177;206	B7Z8R7;E9PCF2;E9PHN4;Q6GZ85;E9PHC8;Q0VAC9;F1D8Q1;Q14994;E9PC13;Q4U0F0;D6REZ7;Q6GZ87;E9PDU3;Q6GZ68;E9PH10;Q6GZ84;E9PGH6;E9PB75	.;.;.;.;.;.;.;NR1I3_HUMAN;.;.;.;.;.;.;.;.;.;.	F	177;206;206;177;206;177;206;206;177;206;177;177;177;131;206;206;206;177;206	ENSP00000425417:L177F;ENSP00000356962:L206F;ENSP00000356959:L206F;ENSP00000407446:L177F;ENSP00000406493:L206F;ENSP00000399361:L177F;ENSP00000412672:L206F;ENSP00000424934:L206F;ENSP00000423666:L177F;ENSP00000356961:L206F;ENSP00000424345:L177F;ENSP00000427175:L177F;ENSP00000356960:L177F;ENSP00000421588:L131F;ENSP00000356963:L206F;ENSP00000356965:L206F;ENSP00000356958:L206F;ENSP00000423089:L177F;ENSP00000427034:L206F	ENSP00000356958:L206F	L	-	1	0	NR1I3	159467821	0.996000	0.38824	0.276000	0.24689	0.457000	0.32468	2.861000	0.48380	0.282000	0.22254	-0.293000	0.09583	CTC	NR1I3-021	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000359180.1		-	ENST00000515621.1	Missense_Mutation	SNP	1 : 161201197 - 161201197 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	588	148
MFAP2	4237	broad.mit.edu	37	1	17301766	17301766	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17301766C>T	ENST00000375535.3	-	8	735	c.446G>A	c.(445-447)cGa>cAa	p.R149Q	MFAP2_ENST00000375534.3_Missense_Mutation_p.R148Q|MFAP2_ENST00000490075.1_5'UTR|MFAP2_ENST00000438542.1_Missense_Mutation_p.R148Q			P55001	MFAP2_HUMAN	microfibrillar-associated protein 2	149						microfibril				kidney(1)|lung(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CTTCCTACCTCGGAGGAGCTC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	74	81			NA	NA	1		NA											NA				17301766		2203	4300	6503	SO:0001583	missense			BC015039	CCDS174.1, CCDS44071.1	1p36.1-p35	2008-02-05			ENSG00000117122	ENSG00000117122	4237	4237			7033	protein-coding gene	gene with protein product		156790			NA	7759096	Standard	NM_002403	NM_017459	NA	Approved	MAGP, MAGP-1	uc001azw.3	P55001	OTTHUMG00000002290	ENST00000375535.3:c.446G>A	1.37:g.17301766C>T	ENSP00000364685:p.Arg149Gln	NA	Q53X60	37	CCDS174.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.956411	0.92726	.	.	ENSG00000117122	ENST00000375535;ENST00000375534;ENST00000438542	.	.	.	4.04	4.04	0.47022	.	0.000000	0.85682	D	0.000000	T	0.74442	0.3717	L	0.59436	1.845	0.53688	D	0.999976	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.973	T	0.75935	-0.3142	9	0.49607	T	0.09	-26.3955	14.0767	0.64893	0.0:1.0:0.0:0.0	.	148;149	Q5JXY0;P55001	.;MFAP2_HUMAN	Q	149;148;148	.	ENSP00000364684:R148Q	R	-	2	0	MFAP2	17174353	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.053000	0.57427	1.990000	0.58119	0.491000	0.48974	CGA	MFAP2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006609.1		-	ENST00000375535.3	Missense_Mutation	SNP	1 : 17301766 - 17301766 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	207	29
PLA2G3	50487	broad.mit.edu	37	22	31535981	31535981	+	Silent	SNP	C	C	T	rs149748193	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31535981C>T	ENST00000215885.3	-	1	612	c.360G>A	c.(358-360)gcG>gcA	p.A120A		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	120					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						TCTCCTCAAGCGCTCGGCATG	0.637		NA											C	10	0.0046	0.02	NA	2184	NA	1	,	,	NA	2e-04	NA	NA	NA	0.0046	0.9952	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0								C		6,4400	11.4+/-27.6	0,6,2197	57	55	56		360	-3.9	0	22	dbSNP_134	56	0,8600		0,0,4300	yes	coding-synonymous	PLA2G3	NM_015715.3		0,6,6497	TT,TC,CC	NA	0.0,0.1362,0.0461		120/510	31535981	6,13000	2203	4300	6503	SO:0001819	synonymous_variant			AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	50487	50487	3.1.1.4		17934	protein-coding gene	gene with protein product		611651			NA	10713052	Standard	NM_015715	NM_015715	NA	Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.360G>A	22.37:g.31535981C>T		NA	O95768	37	CCDS13889.1																																																																																			PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321938.1		-	ENST00000215885.3	Silent	SNP	22 : 31535981 - 31535981 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	55
KNDC1	85442	broad.mit.edu	37	10	135015230	135015230	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135015230C>A	ENST00000304613.3	+	17	3236	c.3215C>A	c.(3214-3216)tCc>tAc	p.S1072Y	KNDC1_ENST00000368571.2_Missense_Mutation_p.S1007Y|KNDC1_ENST00000368572.2_Missense_Mutation_p.S1074Y			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1072				S -> P (in Ref. 1; BAD12625).	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CTGGCCAGGTCCAAAGGGGTC	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	21	20			NA	NA	10		NA											NA				135015230		2198	4294	6492	SO:0001583	missense			AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798	85442	85442			29374	protein-coding gene	gene with protein product			RasGEF domain family, member 2	RASGEF2, C10orf23	NA	11214970	Standard	NM_152643	NM_152643	NA	Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3215C>A	10.37:g.135015230C>A	ENSP00000304437:p.Ser1072Tyr	NA	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	37	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.832504	0.32421	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.13657	2.57;2.57;2.57	5.06	1.82	0.25136	.	1.421330	0.04761	N	0.426279	T	0.19685	0.0473	L	0.29908	0.895	0.09310	N	1	P;P;P	0.45176	0.852;0.799;0.75	P;B;B	0.52598	0.703;0.263;0.171	T	0.30504	-0.9976	10	0.59425	D	0.04	-5.3684	7.7699	0.29001	0.0:0.6446:0.0:0.3554	.	1072;1007;1072	Q76NI1-4;Q76NI1-2;Q76NI1	.;.;VKIND_HUMAN	Y	1072;1074;1007	ENSP00000304437:S1072Y;ENSP00000357561:S1074Y;ENSP00000357560:S1007Y	ENSP00000304437:S1072Y	S	+	2	0	KNDC1	134865220	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	0.016000	0.13377	0.516000	0.28340	0.313000	0.20887	TCC	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277044.3		+	ENST00000304613.3	Missense_Mutation	SNP	10 : 135015230 - 135015230 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	159	35
ZNF780B	163131	broad.mit.edu	37	19	40542318	40542318	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40542318G>T	ENST00000221355.6	-	6	705	c.4C>A	c.(4-6)Cct>Act	p.P2T	ZNF780B_ENST00000434248.1_Missense_Mutation_p.P150T			Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTATAAGCAGGCATTTCTTCA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	127	125			NA	NA	19		NA											NA				40542318		2182	4288	6470	SO:0001583	missense			AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000	163131	163131		Zinc fingers, C2H2-type, -	33109	protein-coding gene	gene with protein product			zinc finger protein 779	ZNF779	NA		Standard	NM_001005851	NM_001005851	NA	Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000221355.6:c.4C>A	19.37:g.40542318G>T	ENSP00000221355:p.Pro2Thr	NA	B9EH00	37		.	.	.	.	.	.	.	.	.	.	G	3.475	-0.107085	0.06924	.	.	ENSG00000128000	ENST00000434248;ENST00000221355	T;T	0.06371	3.49;3.31	2.14	-0.299	0.12808	.	.	.	.	.	T	0.04272	0.0118	N	0.17345	0.48	0.09310	N	1	P	0.48764	0.915	B	0.43413	0.419	T	0.39603	-0.9606	9	0.72032	D	0.01	.	4.6214	0.12450	0.5191:0.0:0.4809:0.0	.	150	Q9Y6R6	Z780B_HUMAN	T	150;2	ENSP00000391641:P150T;ENSP00000221355:P2T	ENSP00000221355:P2T	P	-	1	0	ZNF780B	45234158	.	.	0.011000	0.14972	0.073000	0.16967	.	.	0.192000	0.20272	0.313000	0.20887	CCT	ZNF780B-001	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000338465.1		-	ENST00000221355.6	Missense_Mutation	SNP	19 : 40542318 - 40542318 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	281	58
NUTM2A	728118	broad.mit.edu	37	10	88988216	88988216	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88988216C>T	ENST00000381689.4	+	2	910	c.579C>T	c.(577-579)tgC>tgT	p.C193C	NUTM2A-AS1_ENST00000451940.2_RNA|NUTM2A_ENST00000381707.2_Silent_p.C193C					NUT family member 2A	NA											NA						AGGATGGCTGCGGCCCGAGTG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,3644		0,0,1822	36	43	41		579	-2.6	0	10		41	2,8126		0,2,4062	no	coding-synonymous	FAM22A	NM_001099338.1		0,2,5884	TT,TC,CC	NA	0.0246,0.0,0.017		193/879	88988216	2,11770	1822	4064	5886	SO:0001819	synonymous_variant				CCDS44452.1	10q23.2	2013-03-15	2013-03-14	2013-03-14	ENSG00000184923	ENSG00000184923	728118	728118			23438	protein-coding gene	gene with protein product			family with sequence similarity 22, member A	FAM22A	NA		Standard	NM_001099338	NM_001099338	NA	Approved		uc001kek.3	Q8IVF1	OTTHUMG00000018670	ENST00000381689.4:c.579C>T	10.37:g.88988216C>T		NA		37																																																																																				NUTM2A-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000049212.4		+	ENST00000381689.4	Silent	SNP	10 : 88988216 - 88988216 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	651	53
PQLC1	80148	broad.mit.edu	37	18	77679208	77679208	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77679208C>T	ENST00000409073.1	-	5	626	c.335G>A	c.(334-336)cGc>cAc	p.R112H	PQLC1_ENST00000590381.1_Intron|PQLC1_ENST00000397778.2_Missense_Mutation_p.R195H|PQLC1_ENST00000357575.4_Missense_Mutation_p.R177H			Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1	195						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		GGACTGGTGGCGGTGGTTGCG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	57	58			NA	NA	18		NA											NA				77679208		2203	4299	6502	SO:0001583	missense			AK123870	CCDS12020.1, CCDS54192.1, CCDS54193.1	18q23	2004-01-14			ENSG00000122490	ENSG00000122490	80148	80148			26188	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_025078	NM_025078	NA	Approved	FLJ22378	uc002lnl.2	Q8N2U9	OTTHUMG00000132921	ENST00000409073.1:c.335G>A	18.37:g.77679208C>T	ENSP00000387221:p.Arg112His	NA	Q9H6D0	37		.	.	.	.	.	.	.	.	.	.	C	14.43	2.533771	0.45073	.	.	ENSG00000122490	ENST00000397778;ENST00000409073;ENST00000357575	D;D;D	0.98762	-5.12;-5.12;-5.12	5.1	0.718	0.18202	.	0.270350	0.37577	N	0.002023	D	0.95796	0.8632	L	0.53617	1.68	0.31935	N	0.611672	B;B	0.15473	0.013;0.005	B;B	0.14578	0.011;0.008	D	0.92252	0.5809	10	0.49607	T	0.09	-11.2406	2.861	0.05586	0.2073:0.3046:0.0:0.4881	.	195;177	Q8N2U9;G5E989	PQLC1_HUMAN;.	H	195;112;177	ENSP00000380880:R195H;ENSP00000387221:R112H;ENSP00000350188:R177H	ENSP00000350188:R177H	R	-	2	0	PQLC1	75780196	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	1.270000	0.33086	0.552000	0.29026	0.655000	0.94253	CGC	PQLC1-201	KNOWN	basic|exp_conf	protein_coding	NA	protein_coding			-	ENST00000409073.1	Missense_Mutation	SNP	18 : 77679208 - 77679208 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	213	47
PODXL	5420	broad.mit.edu	37	7	131189129	131189129	+	Missense_Mutation	SNP	C	C	T	rs139425581	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131189129C>T	ENST00000378555.3	-	9	1865	c.1618G>A	c.(1618-1620)Gtc>Atc	p.V540I	PODXL_ENST00000322985.9_Missense_Mutation_p.V508I|PODXL_ENST00000537928.1_Missense_Mutation_p.V508I|PODXL_ENST00000541194.1_Missense_Mutation_p.V542I			O00592	PODXL_HUMAN	podocalyxin-like	540					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					TCCAGAGGGACGATCCAGCTG	0.582		NA											C	3	0.0014	0.01	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0013	0.9839	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0								C	ILE/VAL,ILE/VAL	7,4399	12.9+/-30.5	0,7,2196	146	121	129		1618,1522	5.7	1	7	dbSNP_134	129	0,8600		0,0,4300	yes	missense,missense	PODXL	NM_001018111.2,NM_005397.3	29,29	0,7,6496	TT,TC,CC	NA	0.0,0.1589,0.0538	probably-damaging,probably-damaging	540/559,508/527	131189129	7,12999	2203	4300	6503	SO:0001583	missense				CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567	5420	5420			9171	protein-coding gene	gene with protein product		602632			NA		Standard	NM_001018111	NM_001018111	NA	Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.1618G>A	7.37:g.131189129C>T	ENSP00000367817:p.Val540Ile	NA	A6NHX8|Q52LZ7|Q53ER6	37	CCDS34755.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	29.8	5.032775	0.93575	0.001589	0.0	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000544955;ENST00000378555;ENST00000322985	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000001	T	0.42086	0.1187	M	0.74881	2.28	0.53688	D	0.999977	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.47381	-0.9122	10	0.87932	D	0	-42.4028	12.0939	0.53744	0.0:0.9222:0.0:0.0778	.	508;540	O00592-2;O00592	.;PODXL_HUMAN	I	542;508;498;540;508	ENSP00000440518:V542I;ENSP00000442655:V508I;ENSP00000367817:V540I;ENSP00000319782:V508I	ENSP00000319782:V508I	V	-	1	0	PODXL	130839669	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.662000	0.90505	0.555000	0.69702	GTC	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337627.2		-	ENST00000378555.3	Missense_Mutation	SNP	7 : 131189129 - 131189129 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	364	57
NPAS2	4862	broad.mit.edu	37	2	101587499	101587499	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101587499A>G	ENST00000335681.5	+	12	1388	c.1103A>G	c.(1102-1104)gAc>gGc	p.D368G	NPAS2_ENST00000542504.1_Missense_Mutation_p.D433G	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	368					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTCTGGAAGACCCGCCATCC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	89	90			NA	NA	2		NA											NA				101587499		2203	4300	6503	SO:0001583	missense			U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485	4862	4862		Basic helix-loop-helix proteins	7895	protein-coding gene	gene with protein product		603347			NA	9012850, 9079689	Standard		NM_002518	NA	Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.1103A>G	2.37:g.101587499A>G	ENSP00000338283:p.Asp368Gly	NA	Q4ZFV9|Q53SQ3|Q86V96|Q99629	37	CCDS2048.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.468956	0.84533	.	.	ENSG00000170485	ENST00000335681;ENST00000542504	T;T	0.05447	3.46;3.44	5.85	4.63	0.57726	.	0.146336	0.64402	D	0.000013	T	0.11452	0.0279	L	0.59436	1.845	0.46298	D	0.998977	P;P	0.48640	0.913;0.858	P;B	0.47044	0.535;0.334	T	0.01108	-1.1449	10	0.54805	T	0.06	.	11.9491	0.52944	0.87:0.0:0.0:0.13	.	433;368	F5H027;Q99743	.;NPAS2_HUMAN	G	368;433	ENSP00000338283:D368G;ENSP00000438428:D433G	ENSP00000338283:D368G	D	+	2	0	NPAS2	100953931	1.000000	0.71417	0.998000	0.56505	0.895000	0.52256	4.884000	0.63135	2.233000	0.73108	0.533000	0.62120	GAC	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253168.3		+	ENST00000335681.5	Missense_Mutation	SNP	2 : 101587499 - 101587499 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	520	131
CADM1	23705	broad.mit.edu	37	11	115049448	115049448	+	Missense_Mutation	SNP	C	C	T	rs145171991		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:115049448C>T	ENST00000452722.3	-	9	1146	c.1126G>A	c.(1126-1128)Gtg>Atg	p.V376M	CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000331581.6_Missense_Mutation_p.V405M|CADM1_ENST00000536727.1_Missense_Mutation_p.V377M|CADM1_ENST00000542447.2_Missense_Mutation_p.V348M|CADM1_ENST00000537058.1_Missense_Mutation_p.V387M	NM_014333.3	NP_055148.3	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	NA					adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CCACCGATCACGGCATGATCC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	MET/VAL,MET/VAL	0,4402		0,0,2201	129	111	117		1042,1126	5	1	11	dbSNP_134	117	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense	CADM1	NM_001098517.1,NM_014333.3	21,21	0,1,6496	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging	348/415,376/443	115049448	1,12993	2201	4296	6497	SO:0001583	missense			AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985	23705	23705		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	5951	protein-coding gene	gene with protein product	nectin-like 2	605686	tumor suppressor in lung cancer 1, immunoglobulin superfamily, member 4	TSLC1, IGSF4	NA	10610705	Standard	NM_014333	NM_014333	NA	Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1126G>A	11.37:g.115049448C>T	ENSP00000395359:p.Val376Met	NA	Q86WB8|Q8N2F4	37	CCDS8373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.28|18.28	3.589329|3.589329	0.66105|0.66105	0.0|0.0	1.16E-4|1.16E-4	ENSG00000182985|ENSG00000182985	ENST00000545380|ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581;ENST00000541325	.|T;T;T;T;T	.|0.62498	.|0.02;0.02;0.02;0.02;0.02	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.79627|0.79627	0.4478|0.4478	M|M	0.79926|0.79926	2.475|2.475	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D;D;D	.|0.89917	.|1.0;0.998;0.999;0.994	.|D;P;D;P	.|0.69654	.|0.935;0.819;0.965;0.67	T|T	0.79157|0.79157	-0.1919|-0.1919	5|10	.|0.38643	.|T	.|0.18	.|.	18.4828|18.4828	0.90818|0.90818	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|387;349;376;348	.|F5H0J4;A4FVB5;Q9BY67;A0A4Z1	.|.;.;CADM1_HUMAN;.	H|M	346|348;376;387;377;307;405;61	.|ENSP00000439176:V348M;ENSP00000395359:V376M;ENSP00000439817:V387M;ENSP00000440322:V377M;ENSP00000329797:V405M	.|ENSP00000329797:V405M	R|V	-|-	2|1	0|0	CADM1|CADM1	114554658|114554658	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	4.448000|4.448000	0.60027|0.60027	2.617000|2.617000	0.88574|0.88574	0.655000|0.655000	0.94253|0.94253	CGT|GTG	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398753.2		-	ENST00000452722.3	Missense_Mutation	SNP	11 : 115049448 - 115049448 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	685	115
FBN1	2200	broad.mit.edu	37	15	48718062	48718062	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48718062C>A	ENST00000316623.5	-	59	7660		c.e59-1			NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	NA					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.?(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCATCGATATCTGTAATTTAA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Unknown(1)	upper_aerodigestive_tract(1)											76	66	69			NA	NA	15		NA											NA				48718062		2198	4295	6493	SO:0001630	splice_region_variant			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147	2200	2200			3603	protein-coding gene	gene with protein product	Marfan syndrome	134797	fibrillin 1 (Marfan syndrome)	FBN, MFS1, WMS	NA	10036187, 12525539	Standard		NM_000138	NA	Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.7205-1G>T	15.37:g.48718062C>A		NA	B2RUU0|Q15972|Q75N87	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525982	0.64860	.	.	ENSG00000166147	ENST00000316623	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4745	0.99168	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBN1	46505354	1.000000	0.71417	0.999000	0.59377	0.598000	0.36846	7.601000	0.82783	2.941000	0.99782	0.655000	0.94253	.	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417355.1	Intron	-	ENST00000316623.5	Splice_Site	SNP	15 : 48718062 - 48718062 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	201	31
TNS3	64759	broad.mit.edu	37	7	47333423	47333423	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47333423C>T	ENST00000398879.1	-	25	4046	c.3680G>A	c.(3679-3681)gGa>gAa	p.G1227E	TNS3_ENST00000311160.9_Missense_Mutation_p.G1227E|TNS3_ENST00000355730.3_Missense_Mutation_p.G987E			Q68CZ2	TENS3_HUMAN	tensin 3	1227	SH2.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GGCCAAATCTCCAGCTGTGGC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	61	62			NA	NA	7		NA											NA				47333423		1862	4099	5961	SO:0001583	missense			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205	64759	64759		SH2 domain containing	21616	protein-coding gene	gene with protein product	tumor endothelial marker 6	606825	tensin-like SH2 domain-containing 1	TENS1	NA	11559528	Standard	NM_022748	NM_022748	NA	Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.3680G>A	7.37:g.47333423C>T	ENSP00000381854:p.Gly1227Glu	NA	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	37	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907899	0.72868	.	.	ENSG00000136205	ENST00000311160;ENST00000398879;ENST00000355730;ENST00000545849	D;D;D	0.94793	-3.06;-3.06;-3.52	5.2	4.29	0.51040	SH2 motif (4);	1.364500	0.04355	N	0.356346	D	0.96445	0.8840	L	0.56280	1.765	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.88733	0.3238	10	0.62326	D	0.03	-12.7553	8.8008	0.34907	0.1707:0.6643:0.165:0.0	.	1227	Q68CZ2	TENS3_HUMAN	E	1227;1227;987;683	ENSP00000312143:G1227E;ENSP00000381854:G1227E;ENSP00000347968:G987E	ENSP00000312143:G1227E	G	-	2	0	TNS3	47299948	0.999000	0.42202	0.895000	0.35142	0.974000	0.67602	3.456000	0.53000	1.264000	0.44198	0.655000	0.94253	GGA	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157253.1		-	ENST00000398879.1	Missense_Mutation	SNP	7 : 47333423 - 47333423 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	251	45
FXR2	9513	broad.mit.edu	37	17	7497589	7497589	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7497589T>C	ENST00000250113.7	-	10	1321	c.987A>G	c.(985-987)gaA>gaG	p.E329E		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	329						cytosolic large ribosomal subunit	protein binding|RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CATTATCACCTTCCACTCGAA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	113	115			NA	NA	17		NA											NA				7497589		1904	4114	6018	SO:0001819	synonymous_variant			U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245	9513	9513			4024	protein-coding gene	gene with protein product		605339		FMR1L2	NA	7489725, 9259278	Standard		NM_004860	NA	Approved		uc002gia.2	P51116		ENST00000250113.7:c.987A>G	17.37:g.7497589T>C		NA	B2R9M2|D3DTQ1|Q8WUM2	37	CCDS45604.1																																																																																			FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000441084.1		-	ENST00000250113.7	Silent	SNP	17 : 7497589 - 7497589 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	162	43
SLC9B2	133308	broad.mit.edu	37	4	103971468	103971468	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:103971468A>G	ENST00000503103.1	-	4	533	c.343T>C	c.(343-345)Tgg>Cgg	p.W115R	SLC9B2_ENST00000503230.1_Missense_Mutation_p.W115R|SLC9B2_ENST00000394785.3_Missense_Mutation_p.W172R|SLC9B2_ENST00000362026.3_Missense_Mutation_p.W172R|SLC9B2_ENST00000339611.4_Missense_Mutation_p.W172R			Q86UD5	NHDC2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	172					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity				NA						GAGGAAGACCACTTGTGCTTG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	91	99			NA	NA	4		NA											NA				103971468		2203	4300	6503	SO:0001583	missense			AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038	133308	133308		Solute carriers	25143	protein-coding gene	gene with protein product		611789	Na+/H+ exchanger domain containing 2, solute carrier family 9, subfamily B (cation proton antiporter 2), member 2	NHEDC2	NA	18600791	Standard	NM_178833	XM_005262758	NA	Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000503103.1:c.343T>C	4.37:g.103971468A>G	ENSP00000425385:p.Trp115Arg	NA	B5ME52|Q6ZMD8|Q96D95	37		.	.	.	.	.	.	.	.	.	.	A	21.1	4.104743	0.77096	.	.	ENSG00000164038	ENST00000362026;ENST00000506288;ENST00000339611;ENST00000394785;ENST00000503103;ENST00000503230	T;T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45;2.45	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.44265	0.1285	M	0.82517	2.595	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.83275	0.993;0.994;0.996;0.992	T	0.40270	-0.9572	10	0.30078	T	0.28	-6.523	15.0604	0.71947	1.0:0.0:0.0:0.0	.	115;115;172;172	B7Z676;E9PE63;Q86UD5-2;Q86UD5	.;.;.;SL9B2_HUMAN	R	172;72;172;172;115;115	ENSP00000354574:W172R;ENSP00000421943:W72R;ENSP00000345241:W172R;ENSP00000378265:W172R;ENSP00000425385:W115R;ENSP00000422477:W115R	ENSP00000345241:W172R	W	-	1	0	SLC9B2	104190917	1.000000	0.71417	0.923000	0.36655	0.806000	0.45545	8.156000	0.89645	2.008000	0.58898	0.482000	0.46254	TGG	SLC9B2-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000363236.1		-	ENST00000503103.1	Missense_Mutation	SNP	4 : 103971468 - 103971468 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	370	62
SH3PXD2B	285590	broad.mit.edu	37	5	171821594	171821594	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171821594G>A	ENST00000519643.1	-	4	287	c.282C>T	c.(280-282)cgC>cgT	p.R94R	SH3PXD2B_ENST00000311601.5_Silent_p.R94R			A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	94	PX.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTGGTATCAGGCGTTTGACAG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	93	95			NA	NA	5		NA											NA				171821594		2203	4300	6503	SO:0001819	synonymous_variant			AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705	285590	285590			29242	protein-coding gene	gene with protein product		613293	KIAA1295	KIAA1295	NA	10718198	Standard	NM_017963	NM_001017995	NA	Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000519643.1:c.282C>T	5.37:g.171821594G>A		NA	B6F0V2|Q9P2Q1	37																																																																																				SH3PXD2B-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000372450.1		-	ENST00000519643.1	Silent	SNP	5 : 171821594 - 171821594 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	152	21
LAX1	54900	broad.mit.edu	37	1	203743398	203743398	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203743398T>G	ENST00000442561.2	+	5	1176	c.786T>G	c.(784-786)tcT>tcG	p.S262S	LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Silent_p.S246S	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	262					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AAGGTTCTTCTCAGATCTCAA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	74	74			NA	NA	1		NA											NA				203743398		2203	4300	6503	SO:0001819	synonymous_variant			AK000347	CCDS1441.2, CCDS44297.1	1q32.1	2008-02-05			ENSG00000122188	ENSG00000122188	54900	54900			26005	protein-coding gene	gene with protein product	LAT-like membrane associated protein, linker for activation of x cells				NA	12359715	Standard	NM_017773	NM_017773	NA	Approved	LAX, FLJ20340	uc001haa.3	Q8IWV1	OTTHUMG00000035908	ENST00000442561.2:c.786T>G	1.37:g.203743398T>G		NA	Q6NSZ6|Q9NXB4	37	CCDS1441.2																																																																																			LAX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087468.3		+	ENST00000442561.2	Silent	SNP	1 : 203743398 - 203743398 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	227	21
HCFC2	29915	broad.mit.edu	37	12	104461826	104461826	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104461826A>C	ENST00000229330.4	+	3	518	c.414A>C	c.(412-414)aaA>aaC	p.K138N		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	138					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						ATGGTAACAAATGCTATTTGT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(184;1814 2036 4771 6974 15702)							NA				0													207	198	201			NA	NA	12		NA											NA				104461826		2203	4300	6503	SO:0001583	missense			AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727	29915	29915			24972	protein-coding gene	gene with protein product		607926			NA	10196288	Standard	NM_013320	NM_013320	NA	Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.414A>C	12.37:g.104461826A>C	ENSP00000229330:p.Lys138Asn	NA	B2R8Q5	37	CCDS9097.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.005505	0.74932	.	.	ENSG00000111727	ENST00000229330;ENST00000550444	T;T	0.70282	-0.47;-0.33	5.45	4.15	0.48705	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.80924	0.4717	M	0.79693	2.465	0.51233	D	0.99991	D	0.76494	0.999	D	0.80764	0.994	T	0.81675	-0.0825	10	0.66056	D	0.02	-20.5373	5.5982	0.17339	0.8047:0.0:0.1953:0.0	.	138	Q9Y5Z7	HCFC2_HUMAN	N	138;49	ENSP00000229330:K138N;ENSP00000447952:K49N	ENSP00000229330:K138N	K	+	3	2	HCFC2	102985956	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.377000	0.34317	2.197000	0.70478	0.402000	0.26972	AAA	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407780.1		+	ENST00000229330.4	Missense_Mutation	SNP	12 : 104461826 - 104461826 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1125	222
NPY1R	4886	broad.mit.edu	37	4	164246499	164246499	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:164246499C>T	ENST00000296533.2	-	3	1642	c.1111G>A	c.(1111-1113)Gca>Aca	p.A371T	NPY1R_ENST00000509586.1_Missense_Mutation_p.A128T	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	371					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTTTTAAATGCGACTGGGCTT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	149	148			NA	NA	4		NA											NA				164246499		2203	4300	6503	SO:0001583	missense				CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128	NA	4886		GPCR / Class A : Neuropeptide receptors : Y	7956	protein-coding gene	gene with protein product		162641		NPYR	NA	8095935	Standard		NM_000909	NA	Approved		uc003iqm.2	P25929		ENST00000296533.2:c.1111G>A	4.37:g.164246499C>T	ENSP00000354652:p.Ala371Thr	NA	B2R6H5	37	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	C	9.474	1.096279	0.20552	.	.	ENSG00000164128	ENST00000296533;ENST00000509586	T;T	0.71103	-0.54;-0.06	5.69	2.95	0.34219	.	0.436137	0.22431	N	0.060155	T	0.43875	0.1267	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.20638	-1.0269	10	0.14252	T	0.57	.	7.0591	0.25115	0.1217:0.6822:0.0:0.196	.	371	P25929	NPY1R_HUMAN	T	371;128	ENSP00000354652:A371T;ENSP00000427284:A128T	ENSP00000354652:A371T	A	-	1	0	NPY1R	164465949	0.014000	0.17966	0.201000	0.23476	0.943000	0.58893	0.049000	0.14099	0.722000	0.32252	0.655000	0.94253	GCA	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364685.1		-	ENST00000296533.2	Missense_Mutation	SNP	4 : 164246499 - 164246499 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	839	110
HOXD12	3238	broad.mit.edu	37	2	176964670	176964670	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176964670C>T	ENST00000406506.2	+	1	213	c.141C>T	c.(139-141)ggC>ggT	p.G47G	HOXD12_ENST00000404162.2_Silent_p.G47G			P35452	HXD12_HUMAN	homeobox D12	47				GGQLAALPPISYPRG -> AASLAFPLSPTRA (in Ref. 1; AAF79044).		nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		ACCCGCGCGGCGCGCTGCCCT	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	23	22			NA	NA	2		NA											NA				176964670		1796	4038	5834	SO:0001819	synonymous_variant				CCDS46456.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170178	ENSG00000170178	3238	3238		Homeoboxes / ANTP class : HOXL subclass	5135	protein-coding gene	gene with protein product		142988	homeo box D12	HOX4H	NA	1675198, 1973146	Standard	NM_021193	NM_021193	NA	Approved		uc010zev.1	P35452	OTTHUMG00000150358	ENST00000406506.2:c.141C>T	2.37:g.176964670C>T		NA	B5MCP0|Q9NS03	37	CCDS46456.1																																																																																			HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359253.2		+	ENST00000406506.2	Silent	SNP	2 : 176964670 - 176964670 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	456	149
KIAA0319L	79932	broad.mit.edu	37	1	35900633	35900633	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35900633C>A	ENST00000325722.3	-	21	3246	c.3012G>T	c.(3010-3012)gaG>gaT	p.E1004D	KIAA0319L_ENST00000373266.4_Missense_Mutation_p.E441D	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	1004						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCAGCTCTGACTCGGAGTGCA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	88	92			NA	NA	1		NA											NA				35900633		2203	4300	6503	SO:0001583	missense			AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687	79932	79932			30071	protein-coding gene	gene with protein product		613535			NA	11347906	Standard	NM_024874	NM_024874	NA	Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.3012G>T	1.37:g.35900633C>A	ENSP00000318406:p.Glu1004Asp	NA	B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	37	CCDS390.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.313141	0.40895	.	.	ENSG00000142687	ENST00000325722;ENST00000373266;ENST00000426982	T;T;T	0.10860	3.01;2.83;2.92	4.94	0.794	0.18638	.	0.047201	0.85682	D	0.000000	T	0.08447	0.0210	L	0.40543	1.245	0.80722	D	1	B;B	0.27765	0.188;0.018	B;B	0.24974	0.057;0.013	T	0.22243	-1.0222	10	0.42905	T	0.14	-16.1955	8.7575	0.34654	0.0:0.617:0.0:0.383	.	1004;446	Q8IZA0;Q8IZA0-3	K319L_HUMAN;.	D	1004;441;1004	ENSP00000318406:E1004D;ENSP00000362363:E441D;ENSP00000395883:E1004D	ENSP00000318406:E1004D	E	-	3	2	KIAA0319L	35673220	1.000000	0.71417	0.874000	0.34290	0.972000	0.66771	0.998000	0.29744	0.132000	0.18615	0.563000	0.77884	GAG	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000012684.2		-	ENST00000325722.3	Missense_Mutation	SNP	1 : 35900633 - 35900633 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	310	70
HDGF	3068	broad.mit.edu	37	1	156714810	156714810	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156714810G>T	ENST00000357325.5	-	3	607	c.293C>A	c.(292-294)tCc>tAc	p.S98Y	HDGF_ENST00000416666.2_Missense_Mutation_p.S66Y|HDGF_ENST00000368206.5_Missense_Mutation_p.S114Y|HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000368209.5_Missense_Mutation_p.S91Y|HDGF_ENST00000537739.1_Missense_Mutation_p.S98Y	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	98					cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CTGATAGCCGGAAGCCTTGAC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	113	114			NA	NA	1		NA											NA				156714810		2203	4300	6503	SO:0001583	missense			D16431	CCDS1156.1, CCDS44247.1, CCDS44248.1	1q23.1	2013-10-14	2010-03-19		ENSG00000143321	ENSG00000143321	3068	3068			4856	protein-coding gene	gene with protein product	high-mobility group protein 1-like	600339	hepatoma-derived growth factor (high-mobility group protein 1-like)		NA	8833162	Standard	NM_004494	NM_004494	NA	Approved	HMG1L2	uc001fpy.4	P51858	OTTHUMG00000041295	ENST00000357325.5:c.293C>A	1.37:g.156714810G>T	ENSP00000349878:p.Ser98Tyr	NA	D3DVC9|Q5SZ09	37	CCDS1156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.23|14.23	2.472347|2.472347	0.43942|0.43942	.|.	.|.	ENSG00000143321|ENSG00000143321	ENST00000406805|ENST00000357325;ENST00000368209;ENST00000537739;ENST00000416666;ENST00000368206	.|T;T;T;T;T	.|0.71222	.|-0.55;-0.55;-0.55;-0.55;-0.55	4.51|4.51	4.51|4.51	0.55191|0.55191	.|.	.|0.172694	.|0.40908	.|U	.|0.001000	T|T	0.73644|0.73644	0.3613|0.3613	M|M	0.72353|0.72353	2.195|2.195	0.31276|0.31276	N|N	0.691222|0.691222	.|D;P;D;D;D	.|0.61080	.|0.989;0.902;0.989;0.989;0.963	.|P;P;P;P;P	.|0.56916	.|0.809;0.761;0.809;0.809;0.703	T|T	0.74241|0.74241	-0.3729|-0.3729	6|10	0.12103|0.87932	T|D	0.63|0	-8.5412|-8.5412	14.8085|14.8085	0.69977|0.69977	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|66;98;114;91;98	.|B7Z958;B2RDE8;Q5SZ07;Q5SZ08;P51858	.|.;.;.;.;HDGF_HUMAN	T|Y	98|98;91;98;66;114	.|ENSP00000349878:S98Y;ENSP00000357192:S91Y;ENSP00000443120:S98Y;ENSP00000416752:S66Y;ENSP00000357189:S114Y	ENSP00000438398:P98T|ENSP00000349878:S98Y	P|S	-|-	1|2	0|0	HDGF|HDGF	154981434|154981434	1.000000|1.000000	0.71417|0.71417	0.949000|0.949000	0.38748|0.38748	0.493000|0.493000	0.33554|0.33554	5.138000|5.138000	0.64795|0.64795	2.378000|2.378000	0.81104|0.81104	0.306000|0.306000	0.20318|0.20318	CCG|TCC	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000098946.1		-	ENST00000357325.5	Missense_Mutation	SNP	1 : 156714810 - 156714810 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	698	149
NRK	203447	broad.mit.edu	37	X	105189929	105189929	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:105189929A>G	ENST00000243300.9	+	25	4428	c.4125A>G	c.(4123-4125)atA>atG	p.I1375M	NRK_ENST00000428173.2_Missense_Mutation_p.I1376M	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1375	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ATATACGAATACTGGCAAAAA	0.443		NA								HNSCC(51;0.14)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	88	92			NA	NA	X		NA											NA				105189929		1880	4113	5993	SO:0001583	missense			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572	203447	203447			25391	protein-coding gene	gene with protein product		300791			NA		Standard	NM_198465	NM_198465	NA	Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.4125A>G	X.37:g.105189929A>G	ENSP00000434830:p.Ile1375Met	NA	Q32ND6|Q5H9K2|Q6ZMP2	37		.	.	.	.	.	.	.	.	.	.	A	15.06	2.721956	0.48728	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.79141	-1.23;-1.24	4.33	3.14	0.36123	Citron-like (2);	0.000000	0.56097	D	0.000036	T	0.72309	0.3444	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.72940	-0.4139	10	0.72032	D	0.01	.	6.1494	0.20303	0.7716:0.0:0.0:0.2284	.	1375	Q7Z2Y5	NRK_HUMAN	M	1375;1376	ENSP00000434830:I1375M;ENSP00000438378:I1376M	ENSP00000434830:I1375M	I	+	3	3	NRK	105076585	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	2.184000	0.42575	0.749000	0.32854	0.486000	0.48141	ATA	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000106480.6		+	ENST00000243300.9	Missense_Mutation	SNP	X : 105189929 - 105189929 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	124	44
NUP88	4927	broad.mit.edu	37	17	5302881	5302881	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5302881G>T	ENST00000573584.1	-	8	1791	c.1282C>A	c.(1282-1284)Ctt>Att	p.L428I		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	428					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity	p.L428I(1)		endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						CCTGATCCAAGAAATTTGTGA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											74	70	71			NA	NA	17		NA											NA				5302881		2203	4300	6503	SO:0001583	missense			Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559	4927	4927			8067	protein-coding gene	gene with protein product		602552	nucleoporin 88kD		NA	9049309	Standard	NM_002532	NM_002532	NA	Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.1282C>A	17.37:g.5302881G>T	ENSP00000458954:p.Leu428Ile	NA	D3DTM2|Q9BWE5	37	CCDS11070.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022303	0.54683	.	.	ENSG00000108559	ENST00000225696;ENST00000543132	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.75591	0.3870	L	0.59436	1.845	0.58432	D	0.999993	P;B;D	0.69078	0.476;0.288;0.997	B;B;D	0.85130	0.159;0.069;0.997	T	0.74420	-0.3671	9	0.39692	T	0.17	-0.711	16.987	0.86342	0.0:0.0:1.0:0.0	.	428;297;428	B7Z5I6;B4DP20;Q99567	.;.;NUP88_HUMAN	I	428;297	.	ENSP00000225696:L428I	L	-	1	0	NUP88	5243605	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.784000	0.75084	2.580000	0.87095	0.460000	0.39030	CTT	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216918.3		-	ENST00000573584.1	Missense_Mutation	SNP	17 : 5302881 - 5302881 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	219	47
ATP2B3	492	broad.mit.edu	37	X	152811581	152811581	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:152811581A>T	ENST00000349466.2	+	7	1278	c.952A>T	c.(952-954)Acc>Tcc	p.T318S	ATP2B3_ENST00000263519.4_Missense_Mutation_p.T318S|ATP2B3_ENST00000359149.3_Missense_Mutation_p.T318S|ATP2B3_ENST00000370181.2_Intron|ATP2B3_ENST00000370186.1_Intron|ATP2B3_ENST00000393842.1_Intron			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	318					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGTAGCCAGACCAAAGGTAA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	55	60			NA	NA	X		NA											NA				152811581		2201	4300	6501	SO:0001583	missense			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	492	492	3.6.3.8	ATPases / P-type	816	protein-coding gene	gene with protein product	plasma membrane calcium-transporting ATPase 3, cilia and flagella associated protein 39	300014	spinocerebellar ataxia, X-linked 1, cerebellar ataxia 2 (X-linked)	SCAX1, CLA2	NA	8187550, 22912398	Standard	NM_021949	NM_021949	NA	Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.952A>T	X.37:g.152811581A>T	ENSP00000343886:p.Thr318Ser	NA	B7WNR8|B7WNY5|Q12995|Q16858	37	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	A	12.46	1.945995	0.34377	.	.	ENSG00000067842	ENST00000349466;ENST00000359149;ENST00000263519	D;D;D	0.93247	-3.19;-3.19;-3.19	4.97	4.97	0.65823	ATPase, P-type, ATPase-associated domain (1);	1.660970	0.03744	N	0.255503	D	0.85630	0.5741	N	0.03608	-0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.60016	-0.7345	10	0.13470	T	0.59	-2.5058	12.7934	0.57547	1.0:0.0:0.0:0.0	.	318;318	Q16720;Q16720-2	AT2B3_HUMAN;.	S	318	ENSP00000343886:T318S;ENSP00000352062:T318S;ENSP00000263519:T318S	ENSP00000263519:T318S	T	+	1	0	ATP2B3	152464775	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.774000	0.91767	1.659000	0.50751	0.352000	0.21897	ACC	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060957.1		+	ENST00000349466.2	Missense_Mutation	SNP	X : 152811581 - 152811581 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	198	51
ARFGEF2	10564	broad.mit.edu	37	20	47601357	47601357	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47601357C>T	ENST00000371917.4	+	15	2050	c.2050C>T	c.(2050-2052)Cag>Tag	p.Q684*		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	684	SEC7.				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			ATTCCTGCACCAGGAGGAGCG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(176;1738 1974 26285 33069 35354)							NA				0													125	107	113			NA	NA	20		NA											NA				47601357		2203	4300	6503	SO:0001587	stop_gained			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198	10564	10564		A-kinase anchor proteins	15853	protein-coding gene	gene with protein product	Brefeldin A-inhibited guanine nucleotide-exchange protein 2	605371			NA	10212200	Standard	NM_006420	NM_006420	NA	Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.2050C>T	20.37:g.47601357C>T	ENSP00000360985:p.Gln684*	NA	Q5TFT9|Q9NTS1	37	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	C	39	7.447046	0.98289	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	.	.	.	5.85	5.85	0.93711	.	0.056069	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1588	0.98128	0.0:1.0:0.0:0.0	.	.	.	.	X	684	.	ENSP00000360985:Q684X	Q	+	1	0	ARFGEF2	47034764	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.920000	0.70017	2.770000	0.95276	0.563000	0.77884	CAG	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079627.1		+	ENST00000371917.4	Nonsense_Mutation	SNP	20 : 47601357 - 47601357 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	605	132
MOV10	4343	broad.mit.edu	37	1	113242307	113242307	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113242307G>A	ENST00000369644.1	+	19	3445	c.2416G>A	c.(2416-2418)Gtg>Atg	p.V806M	MOV10_ENST00000369645.1_Splice_Site_p.V862M|MOV10_ENST00000413052.2_Splice_Site_p.V862M|MOV10_ENST00000357443.2_Splice_Site_p.V862M|MOV10_ENST00000468624.1_3'UTR			Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	862					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	p.V862L(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TCCCCACTAGGTGGGTTCAGT	0.567		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)											99	101	100			NA	NA	1		NA											NA				113242307		2203	4300	6503	SO:0001630	splice_region_variant			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363	4343	4343			7200	protein-coding gene	gene with protein product	functional spliceosome-associated protein 113	610742	Mov10 (Moloney leukemia virus 10, mouse) homolog, Mov10, Moloney leukemia virus 10, homolog (mouse)		NA	12226669	Standard	NM_020963	NM_001286072	NA	Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000369644.1:c.2416-1G>A	1.37:g.113242307G>A		NA	Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	37		.	.	.	.	.	.	.	.	.	.	G	20.2	3.946698	0.73672	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.97804	0.9279	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98951	1.0794	10	0.87932	D	0	-15.4699	15.9968	0.80256	0.0:0.0:1.0:0.0	.	862	Q9HCE1	MOV10_HUMAN	M	862;862;806;862;800	ENSP00000399797:V862M;ENSP00000358659:V862M;ENSP00000358658:V806M;ENSP00000350028:V862M	ENSP00000350028:V862M	V	+	1	0	MOV10	113043830	1.000000	0.71417	1.000000	0.80357	0.277000	0.26821	9.866000	0.99616	2.311000	0.77944	0.467000	0.42956	GTG	MOV10-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000032908.1	Missense_Mutation	+	ENST00000369644.1	Splice_Site	SNP	1 : 113242307 - 113242307 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	603	65
PCDHGA9	56107	broad.mit.edu	37	5	140784352	140784352	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140784352C>A	ENST00000573521.1	+	1	1833	c.1833C>A	c.(1831-1833)gcC>gcA	p.A611A	PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1			protocadherin gamma subfamily A, 9	NA										endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATTCAAGGCCAGTGAGCCAG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	63	60			NA	NA	5		NA											NA				140784352		2201	4299	6500	SO:0001819	synonymous_variant			AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26					56107	56107		Cadherins / Protocadherins : Clustered	8707	other	protocadherin		606296			NA	10380929	Standard	NM_018921	NM_018921	NA	Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.1833C>A	5.37:g.140784352C>A		NA		37	CCDS58981.1																																																																																			PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437105.1		+	ENST00000573521.1	Silent	SNP	5 : 140784352 - 140784352 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	454	90
ACTA1	58	broad.mit.edu	37	1	229568793	229568793	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229568793C>T	ENST00000366684.3	-	2	172	c.70G>A	c.(70-72)Gcc>Acc	p.A24T	ACTA1_ENST00000366683.2_Missense_Mutation_p.A24T	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	24					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	TCATCCCCGGCGAAGCCGGCT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	48	47			NA	NA	1		NA											NA				229568793		2203	4300	6503	SO:0001583	missense			J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632	58	58			129	protein-coding gene	gene with protein product	nemaline myopathy type 3	102610		ACTA	NA	10072583, 6865942	Standard	NM_001100	NM_001100	NA	Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.70G>A	1.37:g.229568793C>T	ENSP00000355645:p.Ala24Thr	NA	P02568|P99020|Q5T8M9	37	CCDS1578.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407632	0.42715	.	.	ENSG00000143632	ENST00000366684;ENST00000308794;ENST00000366683;ENST00000366682;ENST00000342787	D;D	0.97186	-4.28;-4.28	4.77	3.86	0.44501	.	0.000000	0.85682	D	0.000000	D	0.98372	0.9459	H	0.98466	4.24	0.29136	N	0.879301	P	0.36315	0.547	P	0.44597	0.454	D	0.96399	0.9295	10	0.87932	D	0	.	12.1436	0.54012	0.0:0.9149:0.0:0.0851	.	24	P68133	ACTS_HUMAN	T	24	ENSP00000355645:A24T;ENSP00000355644:A24T	ENSP00000312351:A24T	A	-	1	0	ACTA1	227635416	1.000000	0.71417	0.982000	0.44146	0.046000	0.14306	7.638000	0.83328	1.230000	0.43646	0.655000	0.94253	GCC	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092781.1		-	ENST00000366684.3	Missense_Mutation	SNP	1 : 229568793 - 229568793 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	475	16
CCDC60	160777	broad.mit.edu	37	12	119961570	119961570	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119961570C>T	ENST00000327554.2	+	11	1641	c.1176C>T	c.(1174-1176)agC>agT	p.S392S	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	392										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AGTTTTACAGCGTAGCCCAGG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	89	96			NA	NA	12		NA											NA				119961570		2203	4300	6503	SO:0001819	synonymous_variant			BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273	160777	160777			28610	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_178499	NM_178499	NA	Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.1176C>T	12.37:g.119961570C>T		NA		37	CCDS9190.1																																																																																			CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401680.1		+	ENST00000327554.2	Silent	SNP	12 : 119961570 - 119961570 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	264	53
SLC35E4	339665	broad.mit.edu	37	22	31032960	31032960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31032960G>A	ENST00000343605.4	+	1	1322	c.523G>A	c.(523-525)Gcc>Acc	p.A175T	SLC35E4_ENST00000406566.1_Missense_Mutation_p.A175T|SLC35E4_ENST00000300385.8_Missense_Mutation_p.A175T	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	175	DUF6.|Leu-rich.					integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						CCTGGGGGCCGCCTGCAGCCT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	22	22			NA	NA	22		NA											NA				31032960		2202	4298	6500	SO:0001583	missense				CCDS13882.1	22q12.2	2013-05-22			ENSG00000100036	ENSG00000100036	339665	339665		Solute carriers	17058	protein-coding gene	gene with protein product					NA		Standard	XM_290973	NM_001001479	NA	Approved		uc003ais.1	Q6ICL7	OTTHUMG00000151110	ENST00000343605.4:c.523G>A	22.37:g.31032960G>A	ENSP00000339626:p.Ala175Thr	NA	Q567P0	37	CCDS13882.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412306	0.83340	.	.	ENSG00000100036	ENST00000343605;ENST00000300385;ENST00000406566;ENST00000451479	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.16	5.16	0.70880	Drug/metabolite transporter (1);	0.115704	0.64402	D	0.000015	T	0.52581	0.1743	L	0.38175	1.15	0.80722	D	1	D;D	0.69078	0.997;0.996	P;P	0.59056	0.851;0.637	T	0.50524	-0.8818	10	0.44086	T	0.13	-13.2384	12.5429	0.56182	0.0:0.0:0.8333:0.1666	.	175;175	Q6ICL7-2;Q6ICL7	.;S35E4_HUMAN	T	175;175;175;151	ENSP00000339626:A175T;ENSP00000300385:A175T;ENSP00000384377:A175T;ENSP00000413552:A151T	ENSP00000300385:A175T	A	+	1	0	SLC35E4	29362960	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	4.155000	0.58131	2.406000	0.81754	0.549000	0.68633	GCC	SLC35E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321382.1		+	ENST00000343605.4	Missense_Mutation	SNP	22 : 31032960 - 31032960 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	223	33
OR8B12	219858	broad.mit.edu	37	11	124413189	124413189	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124413189C>T	ENST00000306842.2	-	1	386	c.362G>A	c.(361-363)cGc>cAc	p.R121H		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GGCCACGTAGCGGTCATACGC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	97	85	89		362	3	1	11		89	0,8598		0,0,4299	no	missense	OR8B12	NM_001005195.1	29	0,1,6499	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging	121/311	124413189	1,12999	2201	4299	6500	SO:0001583	missense				CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953	219858	219858		GPCR / Class A : Olfactory receptors	15307	protein-coding gene	gene with protein product					NA		Standard		NM_001005195	NA	Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.362G>A	11.37:g.124413189C>T	ENSP00000307159:p.Arg121His	NA	B2RNF6|Q6IEW8|Q96RC7	37	CCDS31711.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392891	0.62066	2.27E-4	0.0	ENSG00000170953	ENST00000306842	T	0.77489	-1.1	3.89	2.96	0.34315	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000024	D	0.84138	0.5406	M	0.71871	2.18	0.39888	D	0.973737	D	0.76494	0.999	P	0.62435	0.902	D	0.86343	0.1706	10	0.87932	D	0	.	11.6445	0.51253	0.0:0.9073:0.0:0.0927	.	121	Q8NGG6	OR8BC_HUMAN	H	121	ENSP00000307159:R121H	ENSP00000307159:R121H	R	-	2	0	OR8B12	123918399	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	4.628000	0.61282	1.200000	0.43188	0.650000	0.86243	CGC	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387061.1		-	ENST00000306842.2	Missense_Mutation	SNP	11 : 124413189 - 124413189 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	307	41
MID2	11043	broad.mit.edu	37	X	107167644	107167644	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107167644C>T	ENST00000262843.6	+	8	2055	c.1507C>T	c.(1507-1509)Ctc>Ttc	p.L503F	RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Missense_Mutation_p.L473F	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	503	Fibronectin type-III.					centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						AGTGCATGGACTCCAGAGCGG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	78	86			NA	NA	X		NA											NA				107167644		2203	4300	6503	SO:0001583	missense				CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561	11043	11043		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers, Fibronectin type III domain containing	7096	protein-coding gene	gene with protein product		300204			NA	10400986	Standard	NM_012216	NM_012216	NA	Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.1507C>T	X.37:g.107167644C>T	ENSP00000262843:p.Leu503Phe	NA	A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	37	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554462	0.86231	.	.	ENSG00000080561	ENST00000262843;ENST00000443968	T;D	0.84873	-1.01;-1.91	5.99	5.99	0.97316	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87744	0.6254	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.98;0.997	D	0.89238	0.3582	10	0.72032	D	0.01	.	16.6313	0.85033	0.0:1.0:0.0:0.0	.	503;473	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	F	503;473	ENSP00000262843:L503F;ENSP00000413976:L473F	ENSP00000262843:L503F	L	+	1	0	MID2	107054300	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.035000	0.49759	2.536000	0.85505	0.600000	0.82982	CTC	MID2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057852.2		+	ENST00000262843.6	Missense_Mutation	SNP	X : 107167644 - 107167644 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	283	76
TAS2R41	259287	broad.mit.edu	37	7	143175313	143175313	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143175313C>T	ENST00000408916.1	+	1	348	c.348C>T	c.(346-348)caC>caT	p.H116H	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	116					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					ACATCACACACTCCACCTTCC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	77	77			NA	NA	7		NA											NA				143175313		2001	4174	6175	SO:0001819	synonymous_variant			AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855	259287	259287		Taste receptors / Type 2, GPCR / Unclassified : Taste receptors	18883	protein-coding gene	gene with protein product		613965			NA	12379855	Standard		NM_176883	NA	Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.348C>T	7.37:g.143175313C>T		NA	P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	37	CCDS43663.1																																																																																			TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342149.1		+	ENST00000408916.1	Silent	SNP	7 : 143175313 - 143175313 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	272	20
GNAS	2778	broad.mit.edu	37	20	57429164	57429164	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57429164G>T	ENST00000371100.4	+	1	1396	c.844G>T	c.(844-846)Ggc>Tgc	p.G282C	GNAS_ENST00000313949.7_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.G282C|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.G282C|GNAS_ENST00000306120.3_Silent_p.S218S	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGGCGCCATCGGCAGCCCATC	0.692		NA	Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism, type IA			TSP Lung(22;0.16)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(117;935 1597 6045 8307 46442)		Dom	yes		20	20q13.2	2778	guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1	yes	E	0													14	15	15			NA	NA	20		NA											NA				57429164		1818	3998	5816	SO:0001583	missense			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460	2778	2778			4392	protein-coding gene	gene with protein product	secretogranin VI	139320	guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1	GNAS1	NA		Standard	NM_000516	NM_000516	NA	Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.844G>T	20.37:g.57429164G>T	ENSP00000360141:p.Gly282Cys	NA	E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	37	CCDS46622.1	.	.	.	.	.	.	.	.	.	.	G	8.022	0.759862	0.15846	.	.	ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102	D;D	0.89415	-2.51;-2.51	4.03	-1.54	0.08584	.	6.087180	0.00447	N	0.000089	D	0.84933	0.5582	N	0.19112	0.55	0.19300	N	0.999974	D	0.63880	0.993	P	0.51866	0.682	T	0.74318	-0.3704	10	0.62326	D	0.03	.	4.2544	0.10710	0.4048:0.1677:0.4276:0.0	.	282	Q5JWF2	GNAS1_HUMAN	C	282	ENSP00000360141:G282C;ENSP00000360143:G282C	ENSP00000360140:G282C	G	+	1	0	GNAS	56862559	0.004000	0.15560	0.020000	0.16555	0.425000	0.31504	0.134000	0.15932	-0.215000	0.10063	-0.304000	0.09214	GGC	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080417.3		+	ENST00000371100.4	Missense_Mutation	SNP	20 : 57429164 - 57429164 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	192	33
DGKI	9162	broad.mit.edu	37	7	137269963	137269963	+	Missense_Mutation	SNP	C	C	T	rs111722170		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137269963C>T	ENST00000453654.2	-	14	1194	c.655G>A	c.(655-657)Gta>Ata	p.V219I	DGKI_ENST00000446122.1_Missense_Mutation_p.V519I|DGKI_ENST00000424189.2_Missense_Mutation_p.V519I|DGKI_ENST00000288490.5_Missense_Mutation_p.V519I			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	NA					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ACCTTACATACGCCATCTTCA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	131	133			NA	NA	7		NA											NA				137269963		2203	4300	6503	SO:0001583	missense			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680	9162	9162		Ankyrin repeat domain containing	2855	protein-coding gene	gene with protein product		604072			NA	9830018	Standard	NM_004717	NM_004717	NA	Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000453654.2:c.655G>A	7.37:g.137269963C>T	ENSP00000392161:p.Val219Ile	NA	A4D1Q9|Q9NZ49	37		.	.	.	.	.	.	.	.	.	.	C	15.76	2.927886	0.52759	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.41400	1.0;1.0;1.0	6.07	6.07	0.98685	.	0.403557	0.24417	N	0.038709	T	0.26085	0.0636	N	0.14661	0.345	0.27813	N	0.942071	B;B	0.26318	0.004;0.146	B;B	0.12156	0.004;0.007	T	0.12218	-1.0556	10	0.35671	T	0.21	.	12.7183	0.57127	0.0:0.9243:0.0:0.0757	.	219;519	E9PFX6;O75912	.;DGKI_HUMAN	I	219;467;519;519;519	ENSP00000392161:V219I;ENSP00000288490:V519I;ENSP00000399131:V519I	ENSP00000288490:V519I	V	-	1	0	DGKI	136920503	0.983000	0.35010	0.997000	0.53966	0.995000	0.86356	1.830000	0.39131	2.885000	0.99019	0.655000	0.94253	GTA	DGKI-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000341287.2		-	ENST00000453654.2	Missense_Mutation	SNP	7 : 137269963 - 137269963 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	481	100
SAMD3	154075	broad.mit.edu	37	6	130505263	130505263	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:130505263C>T	ENST00000532763.1	-	6	762	c.633G>A	c.(631-633)gaG>gaA	p.E211E	SAMD3_ENST00000324172.6_Silent_p.E213E|SAMD3_ENST00000368134.2_Silent_p.E213E|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000439090.2_Silent_p.E213E|SAMD3_ENST00000457563.2_Silent_p.E237E|SAMD3_ENST00000437477.2_Silent_p.E213E			Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	213										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		CACAGCCATCCTCATCCAGGA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	86	92			NA	NA	6		NA											NA				130505263		2203	4300	6503	SO:0001819	synonymous_variant			AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483	154075	154075		Sterile alpha motif (SAM) domain containing	21574	protein-coding gene	gene with protein product					NA		Standard	NM_152552	NM_001017373	NA	Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000532763.1:c.633G>A	6.37:g.130505263C>T		NA	E1P576|Q4VXD8|Q8NAY1|Q8NB96	37																																																																																				SAMD3-007	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000390202.1		-	ENST00000532763.1	Silent	SNP	6 : 130505263 - 130505263 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	210	27
API5	8539	broad.mit.edu	37	11	43351531	43351531	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43351531C>T	ENST00000378852.3	+	10	1269	c.1144C>T	c.(1144-1146)Cgg>Tgg	p.R382W	API5_ENST00000420461.2_Missense_Mutation_p.R328W|API5_ENST00000531273.1_Missense_Mutation_p.R382W|RP11-484D2.2_ENST00000526220.1_RNA|API5_ENST00000534600.1_Missense_Mutation_p.R382W|API5_ENST00000534695.1_Intron|API5_ENST00000455725.2_Missense_Mutation_p.R371W	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	382	Leucine-zipper.				anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						GTACTTTGCACGGGGCCTGCA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(1;98 122 5625 20895 49453)							NA				0													82	82	82			NA	NA	11		NA											NA				43351531		2203	4300	6503	SO:0001583	missense			U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181	8539	8539			594	protein-coding gene	gene with protein product	API5-like 1, fibroblast growth factor 2-interacting factor 2, migration-inducing protein MIG8	609774			NA	9307294	Standard	NM_006595	NR_024625	NA	Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000378852.3:c.1144C>T	11.37:g.43351531C>T	ENSP00000368129:p.Arg382Trp	NA	D3DR21|O15441|Q9Y4J7	37	CCDS31465.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.567229	0.45694	.	.	ENSG00000166181	ENST00000455725;ENST00000531273;ENST00000420461;ENST00000378852;ENST00000534600;ENST00000526394	T;T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55;2.55	5.46	2.45	0.29901	Armadillo-like helical (1);Armadillo-type fold (1);	0.057722	0.64402	D	0.000002	T	0.31071	0.0785	M	0.66297	2.02	0.50313	D	0.999863	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.995;0.986;0.992;0.998	T	0.02075	-1.1218	10	0.87932	D	0	-6.7078	9.0068	0.36117	0.3685:0.5638:0.0:0.0677	.	328;382;371;382;382	B4DGR0;Q9BZZ5;B4E283;G3V1C3;Q9BZZ5-2	.;API5_HUMAN;.;.;.	W	371;382;328;382;382;197	ENSP00000399341:R371W;ENSP00000431391:R382W;ENSP00000402540:R328W;ENSP00000368129:R382W;ENSP00000434462:R382W;ENSP00000436436:R197W	ENSP00000368129:R382W	R	+	1	2	API5	43308107	0.977000	0.34250	0.982000	0.44146	0.282000	0.26991	1.421000	0.34815	0.672000	0.31204	-0.119000	0.15052	CGG	API5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389547.1		+	ENST00000378852.3	Missense_Mutation	SNP	11 : 43351531 - 43351531 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	314	63
FPGS	2356	broad.mit.edu	37	9	130575653	130575653	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130575653G>A	ENST00000373225.3	+	15	1593	c.1384G>A	c.(1384-1386)Gcc>Acc	p.A462T	FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373247.2_Missense_Mutation_p.A512T|FPGS_ENST00000393706.2_Missense_Mutation_p.A486T|FPGS_ENST00000373245.1_3'UTR	NM_001018078.1	NP_001018088.1	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	512					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	CACCTGCAGTGCCAGCTCCCT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	68	69			NA	NA	9		NA											NA				130575653		2203	4300	6503	SO:0001583	missense				CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	2356	2356	6.3.2.17		3824	protein-coding gene	gene with protein product		136510			NA		Standard		NM_004957	NA	Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373225.3:c.1384G>A	9.37:g.130575653G>A	ENSP00000362322:p.Ala462Thr	NA	Q5JU22|Q6P2P6	37	CCDS35149.1	.	.	.	.	.	.	.	.	.	.	G	0.798	-0.756282	0.03019	.	.	ENSG00000136877	ENST00000373247;ENST00000393706;ENST00000373225	T;T;T	0.14266	2.95;2.93;2.52	5.03	-10.1	0.00402	Mur ligase, C-terminal (1);	0.753644	0.12795	N	0.438561	T	0.02571	0.0078	N	0.02158	-0.66	0.34854	D	0.741919	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.34601	-0.9822	10	0.02654	T	1	-4.7795	7.9863	0.30213	0.1846:0.0:0.4419:0.3735	.	486;512	Q05932-4;Q05932	.;FOLC_HUMAN	T	512;486;462	ENSP00000362344:A512T;ENSP00000377309:A486T;ENSP00000362322:A462T	ENSP00000362322:A462T	A	+	1	0	FPGS	129615474	0.000000	0.05858	0.001000	0.08648	0.102000	0.19082	-1.085000	0.03390	-1.977000	0.00994	-0.266000	0.10368	GCC	FPGS-012	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054252.2		+	ENST00000373225.3	Missense_Mutation	SNP	9 : 130575653 - 130575653 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	587	112
KYNU	8942	broad.mit.edu	37	2	143685260	143685260	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:143685260C>A	ENST00000410015.2	+	4	413	c.323C>A	c.(322-324)cCt>cAt	p.P108H	KYNU_ENST00000264170.4_Missense_Mutation_p.P108H|KYNU_ENST00000375773.2_Missense_Mutation_p.P108H|KYNU_ENST00000409512.1_Missense_Mutation_p.P108H			Q16719	KYNU_HUMAN	kynureninase	108					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	GGGAAGCGTCCTTGGATTACA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													207	194	198			NA	NA	2		NA											NA				143685260		2203	4300	6503	SO:0001583	missense			U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	8942	8942	3.7.1.3		6469	protein-coding gene	gene with protein product	L-kynurenine hydrolase	605197	kynureninase (L-kynurenine hydrolase)		NA	8706755, 9180257	Standard	NM_001032998	NM_001199241	NA	Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000410015.2:c.323C>A	2.37:g.143685260C>A	ENSP00000387296:p.Pro108His	NA	B2RCZ5|D3DP79|Q6I9T2	37		.	.	.	.	.	.	.	.	.	.	C	21.3	4.134064	0.77662	.	.	ENSG00000115919	ENST00000264170;ENST00000375773;ENST00000409512;ENST00000410015	T;T;T	0.54675	0.56;0.56;0.56	5.88	5.88	0.94601	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.79616	0.4476	M	0.92970	3.365	0.48135	D	0.999597	D;D	0.89917	0.998;1.0	D;D	0.91635	0.969;0.999	D	0.83707	0.0185	10	0.72032	D	0.01	.	16.9558	0.86259	0.0:1.0:0.0:0.0	.	108;108	Q16719;Q9BVW3	KYNU_HUMAN;.	H	108	ENSP00000264170:P108H;ENSP00000364928:P108H;ENSP00000386731:P108H	ENSP00000264170:P108H	P	+	2	0	KYNU	143401730	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	4.831000	0.62752	2.792000	0.96026	0.557000	0.71058	CCT	KYNU-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000332172.2		+	ENST00000410015.2	Missense_Mutation	SNP	2 : 143685260 - 143685260 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	838	259
TBRG4	9238	broad.mit.edu	37	7	45148815	45148815	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45148815G>A	ENST00000258770.3	-	2	143	c.22C>T	c.(22-24)Cga>Tga	p.R8*	TBRG4_ENST00000361278.3_Nonsense_Mutation_p.R8*|TBRG4_ENST00000471142.1_5'UTR|TBRG4_ENST00000494076.1_Nonsense_Mutation_p.R8*|TBRG4_ENST00000395655.4_Nonsense_Mutation_p.R8*	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	8					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						CACGTGCATCGCTTTACCAGG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	45	46			NA	NA	7		NA											NA				45148815		2203	4300	6503	SO:0001587	stop_gained			AB023165	CCDS5501.1, CCDS5502.1	7p13	2006-07-07			ENSG00000136270	ENSG00000136270	9238	9238			17443	protein-coding gene	gene with protein product	FAST kinase domains 4, cell cycle progression 2 protein	611325			NA	9383053	Standard	NM_030900	NM_004749	NA	Approved	Cpr2, KIAA0948, H_TD2522F11.8, FASTKD4	uc011kcd.3	Q969Z0	OTTHUMG00000129247	ENST00000258770.3:c.22C>T	7.37:g.45148815G>A	ENSP00000258770:p.Arg8*	NA	A4D2L2|A4D2L3|D3DVL5|D3DVL6|O14710|Q53GI8|Q8NDM4|Q9BUC6|Q9Y2F6	37	CCDS5501.1	.	.	.	.	.	.	.	.	.	.	G	36	5.618423	0.96649	.	.	ENSG00000136270	ENST00000258770;ENST00000361278;ENST00000395655;ENST00000494076;ENST00000478532;ENST00000475893;ENST00000482285;ENST00000495078	.	.	.	4.91	4.01	0.46588	.	0.884037	0.09884	N	0.743253	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9389	0.64043	0.0:0.1533:0.8467:0.0	.	.	.	.	X	8	.	ENSP00000258770:R8X	R	-	1	2	TBRG4	45115340	0.033000	0.19621	0.926000	0.36857	0.857000	0.48899	1.641000	0.37197	1.241000	0.43820	0.655000	0.94253	CGA	TBRG4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251351.1		-	ENST00000258770.3	Nonsense_Mutation	SNP	7 : 45148815 - 45148815 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	398	35
ZNF764	92595	broad.mit.edu	37	16	30567369	30567369	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30567369C>T	ENST00000395091.2	-	3	685	c.370G>A	c.(370-372)Gac>Aac	p.D124N	AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000252797.2_Missense_Mutation_p.D125N			Q96H86	ZN764_HUMAN	zinc finger protein 764	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						GCCACAGGGTCGGGCTTCTCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	52	50			NA	NA	16		NA											NA				30567369		2196	4300	6496	SO:0001583	missense			BC008821	CCDS10683.1, CCDS54001.1	16p11.2	2013-01-08			ENSG00000169951	ENSG00000169951	92595	92595		Zinc fingers, C2H2-type, -	28200	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_033410	NM_033410	NA	Approved	MGC13138	uc002dyq.3	Q96H86	OTTHUMG00000132406	ENST00000395091.2:c.370G>A	16.37:g.30567369C>T	ENSP00000378526:p.Asp124Asn	NA	A8MZF4|Q9BWS1	37	CCDS54001.1	.	.	.	.	.	.	.	.	.	.	C	7.583	0.669192	0.14776	.	.	ENSG00000169951	ENST00000252797;ENST00000395091	T;T	0.05855	3.4;3.38	4.18	1.06	0.20224	.	0.992446	0.08162	N	0.988372	T	0.02807	0.0084	N	0.08118	0	0.09310	N	1	B;B	0.29671	0.254;0.0	B;B	0.17979	0.02;0.0	T	0.46992	-0.9151	10	0.22109	T	0.4	-0.8577	4.71	0.12868	0.199:0.1833:0.6177:0.0	.	124;125	B3KSN2;Q96H86	.;ZN764_HUMAN	N	125;124	ENSP00000252797:D125N;ENSP00000378526:D124N	ENSP00000252797:D125N	D	-	1	0	ZNF764	30474870	.	.	0.000000	0.03702	0.001000	0.01503	.	.	0.285000	0.22329	-0.256000	0.11100	GAC	ZNF764-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255542.2		-	ENST00000395091.2	Missense_Mutation	SNP	16 : 30567369 - 30567369 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	532	107
KLF4	9314	broad.mit.edu	37	9	110248208	110248208	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:110248208C>A	ENST00000374672.4	-	5	1738		c.e5-1			NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	NA					fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GGTTTCTCACCTGTAAAGGTA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	57	58			NA	NA	9		NA											NA				110248208		2203	4300	6503	SO:0001630	splice_region_variant			AF022184	CCDS6770.2	9q31	2013-01-08			ENSG00000136826	ENSG00000136826	9314	9314		Kruppel-like transcription factors, Zinc fingers, C2H2-type	6348	protein-coding gene	gene with protein product		602253			NA	9422764, 16372018	Standard	NM_004235	NM_004235	NA	Approved	EZF, GKLF	uc004bdg.3	O43474	OTTHUMG00000020449	ENST00000374672.4:c.1265-1G>T	9.37:g.110248208C>A		NA	B2R8S4|B3KT79|P78338|Q5T3J8|Q5T3J9|Q8N717|Q9UNP3	37	CCDS6770.2	.	.	.	.	.	.	.	.	.	.	C	15.02	2.708696	0.48517	.	.	ENSG00000136826	ENST00000374672	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7481	0.91802	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KLF4	109288029	1.000000	0.71417	0.998000	0.56505	0.637000	0.38172	7.818000	0.86416	2.536000	0.85505	0.462000	0.41574	.	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053556.2	Intron	-	ENST00000374672.4	Splice_Site	SNP	9 : 110248208 - 110248208 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	68
IGF2R	3482	broad.mit.edu	37	6	160497015	160497015	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160497015G>A	ENST00000356956.1	+	36	5451	c.5303G>A	c.(5302-5304)aGa>aAa	p.R1768K		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1768					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CACTGTAAGAGAGGTGTGAGC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	161	166			NA	NA	6		NA											NA				160497015		2203	4300	6503	SO:0001583	missense			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081	3482	3482		CD molecules	5467	protein-coding gene	gene with protein product	cation-independent mannose-6 phosphate receptor	147280			NA		Standard	NM_000876	NM_000876	NA	Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.5303G>A	6.37:g.160497015G>A	ENSP00000349437:p.Arg1768Lys	NA	Q7Z7G9|Q96PT5	37	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167333	0.78339	.	.	ENSG00000197081	ENST00000356956	T	0.01947	4.54	5.31	5.31	0.75309	Mannose-6-phosphate receptor, binding (1);	0.239713	0.40818	N	0.001003	T	0.01558	0.0050	L	0.45698	1.435	0.42957	D	0.994396	B	0.28439	0.212	B	0.38712	0.28	T	0.54807	-0.8238	10	0.12430	T	0.62	-6.6127	13.1296	0.59373	0.0834:0.0:0.9166:0.0	.	1768	P11717	MPRI_HUMAN	K	1768	ENSP00000349437:R1768K	ENSP00000349437:R1768K	R	+	2	0	IGF2R	160417005	1.000000	0.71417	0.904000	0.35570	0.901000	0.52897	4.728000	0.62000	2.637000	0.89404	0.655000	0.94253	AGA	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042931.1		+	ENST00000356956.1	Missense_Mutation	SNP	6 : 160497015 - 160497015 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	692	132
FOLH1	2346	broad.mit.edu	37	11	49204705	49204705	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:49204705G>T	ENST00000340334.7	-	8	1239	c.871C>A	c.(871-873)Cta>Ata	p.L291I	FOLH1_ENST00000256999.2_Missense_Mutation_p.L306I|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000533034.1_Missense_Mutation_p.L291I|FOLH1_ENST00000356696.3_Missense_Mutation_p.L306I	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	306	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	ACTTACTCTAGGAGCTTCTGT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	69	70			NA	NA	11		NA											NA				49204705		2201	4298	6499	SO:0001583	missense			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	2346	2346	3.4.17.21		3788	protein-coding gene	gene with protein product	glutamate carboxylase II, glutamate carboxypeptidase II	600934		FOLH	NA	9838072	Standard	NM_004476	NM_001193472	NA	Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000340334.7:c.871C>A	11.37:g.49204705G>T	ENSP00000344131:p.Leu291Ile	NA	A4UU12|A9CB79|B7Z343|D3DQS5|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	37	CCDS53628.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.304998	0.40795	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	2.76	1.8	0.24995	.	0.000000	0.38959	N	0.001518	T	0.66982	0.2845	M	0.88775	2.98	0.80722	D	1	D;D;P;P	0.71674	0.998;0.958;0.891;0.661	D;D;P;P	0.72982	0.974;0.979;0.706;0.613	T	0.65985	-0.6035	10	0.56958	D	0.05	.	6.837	0.23941	0.1575:0.0:0.8425:0.0	.	291;291;306;306	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	I	306;306;291;291;306	ENSP00000256999:L306I;ENSP00000349129:L306I;ENSP00000344131:L291I;ENSP00000431463:L291I	ENSP00000256999:L306I	L	-	1	2	FOLH1	49161281	0.998000	0.40836	0.974000	0.42286	0.313000	0.28021	2.021000	0.41020	0.479000	0.27511	0.194000	0.17425	CTA	FOLH1-003	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390899.1		-	ENST00000340334.7	Missense_Mutation	SNP	11 : 49204705 - 49204705 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	52
SST	6750	broad.mit.edu	37	3	187386950	187386950	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:187386950T>G	ENST00000287641.3	-	2	361	c.254A>C	c.(253-255)gAg>gCg	p.E85A		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	85					digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Bromocriptine(DB01200)|Cysteamine(DB00847)	TCTCTGCAGCTCAAGCCTCAT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													257	242	247			NA	NA	3		NA											NA				187386950		2203	4300	6503	SO:0001583	missense				CCDS3288.1	3q28	2013-02-28			ENSG00000157005	ENSG00000157005	6750	6750		Endogenous ligands	11329	protein-coding gene	gene with protein product	somatostatin-14, somatostatin-28, prepro-somatostatin	182450			NA	6126875, 6142531	Standard	NM_001048	NM_001048	NA	Approved	SMST	uc003frn.3	P61278	OTTHUMG00000156462	ENST00000287641.3:c.254A>C	3.37:g.187386950T>G	ENSP00000287641:p.Glu85Ala	NA	B2R5G3|P01166	37	CCDS3288.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.344256	0.82022	.	.	ENSG00000157005	ENST00000287641	T	0.38887	1.11	5.51	5.51	0.81932	.	0.090474	0.85682	D	0.000000	T	0.66237	0.2769	M	0.79926	2.475	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.71234	-0.4653	10	0.72032	D	0.01	1.252	14.8038	0.69935	0.0:0.0:0.0:1.0	.	85	P61278	SMS_HUMAN	A	85	ENSP00000287641:E85A	ENSP00000287641:E85A	E	-	2	0	SST	188869644	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	7.698000	0.84413	2.092000	0.63282	0.254000	0.18369	GAG	SST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344278.1		-	ENST00000287641.3	Missense_Mutation	SNP	3 : 187386950 - 187386950 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1694	341
TMEM52B	120939	broad.mit.edu	37	12	10342543	10342543	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10342543C>A	ENST00000298530.3	+	4	874	c.296C>A	c.(295-297)gCt>gAt	p.A99D	TMEM52B_ENST00000536952.1_Missense_Mutation_p.A119D|TMEM52B_ENST00000381923.2_Missense_Mutation_p.A119D	NM_153022.2	NP_694567.1			transmembrane protein 52B	NA											NA						CTGGCTGTGGCTCACTCCCAC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	78	81			NA	NA	12		NA											NA				10342543		2203	4300	6503	SO:0001583	missense			AY358845	CCDS8619.1, CCDS66314.1	12p13.2	2012-08-15	2012-08-15	2012-08-15	ENSG00000165685	ENSG00000165685	120939	120939			26438	protein-coding gene	gene with protein product			chromosome 12 open reading frame 59	C12orf59	NA	12975309	Standard	NM_153022	XM_005253299	NA	Approved	FLJ31166	uc001qxq.3	Q4KMG9	OTTHUMG00000168410	ENST00000298530.3:c.296C>A	12.37:g.10342543C>A	ENSP00000298530:p.Ala99Asp	NA		37	CCDS8619.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567364	0.65651	.	.	ENSG00000165685	ENST00000381923;ENST00000298530;ENST00000536952	T;T;T	0.32753	1.44;1.44;1.44	4.39	4.39	0.52855	.	0.274240	0.30840	N	0.008771	T	0.43055	0.1230	L	0.56769	1.78	0.38368	D	0.944802	P;P	0.51351	0.944;0.944	P;P	0.52957	0.714;0.628	T	0.48703	-0.9012	10	0.54805	T	0.06	-8.5221	14.8378	0.70197	0.0:1.0:0.0:0.0	.	119;99	Q4KMG9;Q4KMG9-2	CL059_HUMAN;.	D	119;99;119	ENSP00000371348:A119D;ENSP00000298530:A99D;ENSP00000446102:A119D	ENSP00000298530:A99D	A	+	2	0	C12orf59	10233810	1.000000	0.71417	0.744000	0.31058	0.650000	0.38633	4.753000	0.62183	2.427000	0.82271	0.585000	0.79938	GCT	TMEM52B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399648.1		+	ENST00000298530.3	Missense_Mutation	SNP	12 : 10342543 - 10342543 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	281	53
USP19	10869	broad.mit.edu	37	3	49147789	49147789	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49147789C>T	ENST00000453664.1	-	26	4148	c.3830G>A	c.(3829-3831)cGc>cAc	p.R1277H	USP19_ENST00000434032.2_Missense_Mutation_p.R1287H|USP19_ENST00000398888.2_Missense_Mutation_p.R1186H|USP19_ENST00000398898.2_Missense_Mutation_p.R1226H|USP19_ENST00000398896.1_Missense_Mutation_p.R994H|USP19_ENST00000417901.1_Missense_Mutation_p.R1289H|USP19_ENST00000398892.3_Missense_Mutation_p.R1226H	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	1186					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATCAAACAAGCGCCAGCCTAC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	59	57			NA	NA	3		NA											NA				49147789		2165	4262	6427	SO:0001583	missense			AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046	10869	10869		Zinc fingers, MYND-type, Ubiquitin-specific peptidases	12617	protein-coding gene	gene with protein product		614471	ubiquitin specific protease 19		NA	12838346	Standard	NM_006677	NM_001199160	NA	Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000453664.1:c.3830G>A	3.37:g.49147789C>T	ENSP00000400090:p.Arg1277His	NA	A6H8U2|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	37	CCDS56256.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238243	0.79800	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.67	5.67	0.87782	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.046862	0.85682	D	0.000000	T	0.45776	0.1359	N	0.25485	0.75	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998	D;D;D;D;D	0.97110	1.0;1.0;0.998;0.998;0.955	T	0.33574	-0.9863	10	0.45353	T	0.12	-17.718	19.7629	0.96329	0.0:1.0:0.0:0.0	.	1287;1277;1186;1226;994	E9PEG8;E7EN22;O94966;B5MEG5;E7ESU0	.;.;UBP19_HUMAN;.;.	H	994;1226;1289;1277;1226;1186;1287	ENSP00000381870:R994H;ENSP00000381872:R1226H;ENSP00000395260:R1289H;ENSP00000400090:R1277H;ENSP00000381867:R1226H;ENSP00000381863:R1186H;ENSP00000401197:R1287H	ENSP00000381863:R1186H	R	-	2	0	USP19	49122793	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.476000	0.81055	2.666000	0.90696	0.561000	0.74099	CGC	USP19-013	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345933.1		-	ENST00000453664.1	Missense_Mutation	SNP	3 : 49147789 - 49147789 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	59
TTC7B	145567	broad.mit.edu	37	14	91044542	91044542	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91044542C>A	ENST00000328459.6	-	19	2339	c.2218G>T	c.(2218-2220)Gct>Tct	p.A740S	TTC7B_ENST00000357056.2_Missense_Mutation_p.A757S|TTC7B_ENST00000554654.1_5'UTR	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	740							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CGGAGCTCAGCAATCTGGCCG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	86	91			NA	NA	14		NA											NA				91044542		2203	4300	6503	SO:0001583	missense			BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914	145567	145567		Tetratricopeptide (TTC) repeat domain containing	19858	protein-coding gene	gene with protein product			tetratricopeptide repeat domain 7 like 1	TTC7L1	NA		Standard		XM_005267367	NA	Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.2218G>T	14.37:g.91044542C>A	ENSP00000336127:p.Ala740Ser	NA	Q86U24|Q86VT3	37	CCDS32140.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.383|9.383	1.073633|1.073633	0.20147|0.20147	.|.	.|.	ENSG00000165914|ENSG00000165914	ENST00000555768;ENST00000357056;ENST00000328459;ENST00000553972|ENST00000557292	T;T;T|.	0.59906|.	0.23;0.23;0.23|.	5.48|5.48	3.44|3.44	0.39384|0.39384	Protein prenyltransferase (1);Tetratricopeptide repeat-containing (1);|.	0.184815|.	0.46758|.	D|.	0.000263|.	T|T	0.68421|0.68421	0.2999|0.2999	M|M	0.63843|0.63843	1.955|1.955	0.58432|0.58432	D|D	0.999999|0.999999	B;B|.	0.17268|.	0.021;0.0|.	B;B|.	0.19666|.	0.026;0.004|.	T|T	0.67577|0.67577	-0.5635|-0.5635	10|5	0.22109|.	T|.	0.4|.	-2.2328|-2.2328	12.6405|12.6405	0.56707|0.56707	0.155:0.7368:0.1082:0.0|0.155:0.7368:0.1082:0.0	.|.	740;757|.	Q86TV6;Q86TV6-2|.	TTC7B_HUMAN;.|.	S|F	638;757;740;227|167	ENSP00000349564:A757S;ENSP00000336127:A740S;ENSP00000451440:A227S|.	ENSP00000336127:A740S|.	A|C	-|-	1|2	0|0	TTC7B|TTC7B	90114295|90114295	1.000000|1.000000	0.71417|0.71417	0.937000|0.937000	0.37676|0.37676	0.177000|0.177000	0.22998|0.22998	4.822000|4.822000	0.62686|0.62686	1.273000|1.273000	0.44346|0.44346	0.655000|0.655000	0.94253|0.94253	GCT|TGC	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411364.2		-	ENST00000328459.6	Missense_Mutation	SNP	14 : 91044542 - 91044542 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	163	34
SPOPL	339745	broad.mit.edu	37	2	139318378	139318378	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:139318378C>T	ENST00000280098.4	+	8	1097	c.718C>T	c.(718-720)Cga>Tga	p.R240*		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	240	BTB.					nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		ATATCAGAATCGAGTGGAAAT	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	56	55			NA	NA	2		NA											NA				139318378		2203	4300	6503	SO:0001587	stop_gained				CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228	339745	339745		BTB/POZ domain containing	27934	protein-coding gene	gene with protein product	HIB homolog 2, roadkill homolog 2				NA		Standard		NM_001001664	NA	Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	ENST00000280098.4:c.718C>T	2.37:g.139318378C>T	ENSP00000280098:p.Arg240*	NA		37	CCDS33298.1	.	.	.	.	.	.	.	.	.	.	C	40	8.236883	0.98719	.	.	ENSG00000144228	ENST00000280098	.	.	.	5.15	5.15	0.70609	.	0.192219	0.45606	D	0.000350	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.6407	13.8908	0.63738	0.1525:0.8475:0.0:0.0	.	.	.	.	X	240	.	.	R	+	1	2	SPOPL	139034848	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.890000	0.69774	2.554000	0.86153	0.591000	0.81541	CGA	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331897.1		+	ENST00000280098.4	Nonsense_Mutation	SNP	2 : 139318378 - 139318378 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	259	25
ZNF763	284390	broad.mit.edu	37	19	12089241	12089241	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12089241G>A	ENST00000358987.3	+	4	629	c.502G>A	c.(502-504)Gga>Aga	p.G168R	ZNF763_ENST00000343949.5_Missense_Mutation_p.G171R|ZNF763_ENST00000545530.1_Missense_Mutation_p.G46R|ZNF763_ENST00000590798.1_Missense_Mutation_p.G188R|ZNF763_ENST00000538752.1_Missense_Mutation_p.G188R					zinc finger protein 763	NA										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						GAATCACACCGGAGAGAAACC	0.428		NA											a	3	0.0014	NA	0.0028	2184	NA	1	,	,	NA	0.0011	0.0026	NA	NA	0.0014	0.9844	LOWCOV,EXOME	NA	NA	9e-04	SNP								NA				0								G	ARG/GLY	14,4378	797.9+/-415.4	0,14,2182	108	114	112		511	0.5	0	19		112	18,8582	809.7+/-407.1	0,18,4282	yes	missense	ZNF763	NM_001012753.1	125	0,32,6464	AA,AG,GG	NA	0.2093,0.3188,0.2463		171/398	12089241	32,12960	2196	4300	6496	SO:0001583	missense			AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054	284390	284390		Zinc fingers, C2H2-type, -	27614	protein-coding gene	gene with protein product					NA		Standard	NM_001012753	NM_001012753	NA	Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.502G>A	19.37:g.12089241G>A	ENSP00000402017:p.Gly168Arg	NA		37		3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	a	9.824	1.186558	0.21870	0.003188	0.002093	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000545530;ENST00000358987	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	1.68	0.523	0.17060	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16128	0.0388	L	0.48362	1.52	0.21915	N	0.999476	B;B;P	0.34977	0.06;0.024;0.478	B;B;B	0.17722	0.019;0.017;0.017	T	0.15435	-1.0437	9	0.59425	D	0.04	.	4.247	0.10675	0.403:0.0:0.597:0.0	.	188;168;171	F5H0A9;Q0D2J5;Q0D2J5-2	.;ZN763_HUMAN;.	R	188;171;46;168	ENSP00000438117:G188R;ENSP00000369774:G171R;ENSP00000446166:G46R;ENSP00000402017:G168R	ENSP00000369774:G171R	G	+	1	0	ZNF763	11950241	0.002000	0.14202	0.018000	0.16275	0.088000	0.18126	0.870000	0.28010	0.031000	0.15407	0.195000	0.17529	GGA	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000344158.1		+	ENST00000358987.3	Missense_Mutation	SNP	19 : 12089241 - 12089241 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	779	155
KLHL10	317719	broad.mit.edu	37	17	39998189	39998189	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39998189T>C	ENST00000293303.4	+	2	462	c.309T>C	c.(307-309)ccT>ccC	p.P103P	KLHL10_ENST00000485613.1_3'UTR	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	103	BTB.					cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				GGACCGTGCCTATCACACCGG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	117	120			NA	NA	17		NA											NA				39998189		1984	4172	6156	SO:0001819	synonymous_variant			AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594	317719	317719		Kelch-like, BTB/POZ domain containing	18829	protein-coding gene	gene with protein product		608778	kelch-like 10 (Drosophila)		NA		Standard	NM_152467	NM_152467	NA	Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.309T>C	17.37:g.39998189T>C		NA	Q6NW28|Q96MC0	37	CCDS42340.1																																																																																			KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326535.1		+	ENST00000293303.4	Silent	SNP	17 : 39998189 - 39998189 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	504	108
ABCA3	21	broad.mit.edu	37	16	2334403	2334403	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2334403G>A	ENST00000382381.3	-	24	4276	c.3565C>T	c.(3565-3567)Cac>Tac	p.H1189Y	ABCA3_ENST00000301732.5_Missense_Mutation_p.H1247Y			Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1247					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				AGGAACACGTGATCCAGGGTT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	137	140			NA	NA	16		NA											NA				2334403		2198	4300	6498	SO:0001583	missense			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972	21	21		ATP binding cassette transporters / subfamily A	33	protein-coding gene	gene with protein product		601615		ABC3	NA	8706931	Standard	NM_001089	NM_001089	NA	Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000382381.3:c.3565C>T	16.37:g.2334403G>A	ENSP00000371818:p.His1189Tyr	NA	B2RU09|Q54A95|Q92473	37		.	.	.	.	.	.	.	.	.	.	G	8.373	0.835772	0.16820	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.86366	-2.11	5.31	2.05	0.26809	.	0.740809	0.13088	N	0.414772	T	0.75391	0.3843	L	0.34521	1.04	0.53005	D	0.99996	B;B	0.06786	0.001;0.001	B;B	0.14023	0.01;0.005	T	0.60561	-0.7239	10	0.06494	T	0.89	.	6.4674	0.21990	0.1554:0.0:0.6437:0.2009	.	1251;1247	Q4LE27;Q99758	.;ABCA3_HUMAN	Y	1247;1251	ENSP00000301732:H1247Y	ENSP00000301732:H1247Y	H	-	1	0	ABCA3	2274404	1.000000	0.71417	0.267000	0.24556	0.537000	0.34900	5.356000	0.66052	0.642000	0.30620	0.650000	0.86243	CAC	ABCA3-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000435440.1		-	ENST00000382381.3	Missense_Mutation	SNP	16 : 2334403 - 2334403 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	733	132
GLTSCR2	29997	broad.mit.edu	37	19	48254262	48254262	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48254262C>T	ENST00000246802.5	+	4	534	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	166				RRKEQLWEKLAKQGELPREVRRAQARLLNPSATRAKPGPQD TVERP -> SGRSSYGRSWPSRASSPGGAQGPSPVAQPFCN KGPNPAPGHRIAA (in Ref. 3; AAG30413).		nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		CCGGGAGGTGCGCAGGGCCCA	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(58;613 1041 9473 10089 15241)							NA				0													15	15	15			NA	NA	19		NA											NA				48254262		2193	4292	6485	SO:0001583	missense			AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373	29997	29997			4333	protein-coding gene	gene with protein product		605691			NA	10708517, 16971513, 17657248	Standard	NM_015710	NM_015710	NA	Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.496C>T	19.37:g.48254262C>T	ENSP00000246802:p.Arg166Cys	NA	Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	37	CCDS12705.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449166	0.63178	.	.	ENSG00000105373	ENST00000246802;ENST00000325566	T	0.46819	0.86	3.86	3.86	0.44501	.	0.160449	0.41938	D	0.000785	T	0.63827	0.2544	M	0.68317	2.08	0.51012	D	0.999903	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.991;0.991;0.995	T	0.67201	-0.5730	10	0.72032	D	0.01	-14.0727	11.4519	0.50158	0.0:1.0:0.0:0.0	.	166;166;164	Q53YP0;Q9NZM5;Q96CS0	.;GSCR2_HUMAN;.	C	166	ENSP00000246802:R166C	ENSP00000246802:R166C	R	+	1	0	GLTSCR2	52946074	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	3.773000	0.55333	2.138000	0.66242	0.407000	0.27541	CGC	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464870.1		+	ENST00000246802.5	Missense_Mutation	SNP	19 : 48254262 - 48254262 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	58	7
NDST3	9348	broad.mit.edu	37	4	118975655	118975655	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:118975655C>T	ENST00000296499.5	+	2	993	c.590C>T	c.(589-591)cCt>cTt	p.P197L	NDST3_ENST00000433996.2_Missense_Mutation_p.P197L	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	197	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TGTATTAATCCTCATTCTCCA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	113	112			NA	NA	4		NA											NA				118975655		2203	4299	6502	SO:0001583	missense			AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100	9348	9348		Sulfotransferases, membrane-bound	7682	protein-coding gene	gene with protein product		603950			NA	9915799	Standard	NM_004784	NM_004784	NA	Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.590C>T	4.37:g.118975655C>T	ENSP00000296499:p.Pro197Leu	NA	Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	37	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.958808	0.53400	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.48836	1.16;0.8	5.07	5.07	0.68467	.	0.052125	0.85682	D	0.000000	T	0.66674	0.2813	M	0.76574	2.34	0.80722	D	1	P;P;D	0.56746	0.863;0.788;0.977	P;P;P	0.58928	0.681;0.848;0.647	T	0.71902	-0.4452	10	0.87932	D	0	.	18.4535	0.90712	0.0:1.0:0.0:0.0	.	197;197;197	B4DI67;O95803;O95803-2	.;NDST3_HUMAN;.	L	197	ENSP00000296499:P197L;ENSP00000396625:P197L	ENSP00000296499:P197L	P	+	2	0	NDST3	119195103	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.555000	0.82223	2.346000	0.79739	0.655000	0.94253	CCT	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256517.4		+	ENST00000296499.5	Missense_Mutation	SNP	4 : 118975655 - 118975655 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	759	132
LRRIQ3	127255	broad.mit.edu	37	1	74649258	74649258	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:74649258G>A	ENST00000370911.3	-	2	262	c.111C>T	c.(109-111)ggC>ggT	p.G37G	LRRIQ3_ENST00000354431.4_Silent_p.G37G|LRRIQ3_ENST00000370909.2_Silent_p.G37G|LRRIQ3_ENST00000395089.1_Silent_p.G37G			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	37										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						ttaaatgaaggccattgaact	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	60	59			NA	NA	1		NA											NA				74649258		2201	4296	6497	SO:0001819	synonymous_variant			BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620	127255	127255			28318	protein-coding gene	gene with protein product			leucine rich repeat containing 44	LRRC44	NA	12477932	Standard	NM_145258	NM_001105659	NA	Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000370911.3:c.111C>T	1.37:g.74649258G>A		NA	A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	37																																																																																				LRRIQ3-001	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000026275.1		-	ENST00000370911.3	Silent	SNP	1 : 74649258 - 74649258 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	176	31
RALGPS2	55103	broad.mit.edu	37	1	178871296	178871296	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178871296C>A	ENST00000367635.3	+	18	1918	c.1580C>A	c.(1579-1581)gCt>gAt	p.A527D	RALGPS2_ENST00000367634.2_Missense_Mutation_p.A501D	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	527	PH.|Required for stimulation of nucleotide exchange by RALA (By similarity).				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GTGATGATGGCTGATGACCCT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													225	196	206			NA	NA	1		NA											NA				178871296		2203	4300	6503	SO:0001583	missense			AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191	55103	55103		Pleckstrin homology (PH) domain containing	30279	protein-coding gene	gene with protein product					NA	10747847, 12102558	Standard	NM_152663	NM_152663	NA	Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.1580C>A	1.37:g.178871296C>A	ENSP00000356607:p.Ala527Asp	NA	Q5T5Z1|Q5VZ67|Q9NW78	37	CCDS1325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.5|25.5	4.642959|4.642959	0.87859|0.87859	.|.	.|.	ENSG00000116191|ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778;ENST00000535251|ENST00000367632	T;T;T|.	0.80738|.	-1.41;-1.41;-1.41|.	5.69|5.69	5.69|5.69	0.88448|0.88448	Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68550|0.68550	0.3013|0.3013	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	B;P|.	0.43352|.	0.08;0.804|.	B;B|.	0.44315|.	0.017;0.446|.	T|T	0.63233|0.63233	-0.6683|-0.6683	10|5	0.36615|.	T|.	0.2|.	.|.	19.4161|19.4161	0.94700|0.94700	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	501;527|.	B7Z7B1;Q86X27|.	.;RGPS2_HUMAN|.	D|M	527;501;492;176|118	ENSP00000356607:A527D;ENSP00000356606:A501D;ENSP00000313613:A492D|.	ENSP00000313613:A492D|.	A|L	+|+	2|1	0|2	RALGPS2|RALGPS2	177137919|177137919	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.999000|0.999000	0.98932|0.98932	7.463000|7.463000	0.80869|0.80869	2.683000|2.683000	0.91414|0.91414	0.655000|0.655000	0.94253|0.94253	GCT|CTG	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084926.2		+	ENST00000367635.3	Missense_Mutation	SNP	1 : 178871296 - 178871296 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	480	77
ADAMTS3	9508	broad.mit.edu	37	4	73181645	73181645	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73181645G>T	ENST00000286657.4	-	11	1565	c.1529C>A	c.(1528-1530)cCt>cAt	p.P510H		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	510	Disintegrin.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGGATTATCAGGATGGCTACA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(168;1941 2048 2918 13048 43078)							NA				0													100	95	97			NA	NA	4		NA											NA				73181645		2203	4300	6503	SO:0001583	missense			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	9508	9508	3.4.24.-	ADAM metallopeptidases with thrombospondin type 1 motif	219	protein-coding gene	gene with protein product		605011	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3		NA	10094461	Standard		NM_014243	NA	Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.1529C>A	4.37:g.73181645G>T	ENSP00000286657:p.Pro510His	NA	A1L3U9|Q9BXZ8	37	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426721	0.83667	.	.	ENSG00000156140	ENST00000286657	T	0.65732	-0.17	5.63	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.77651	0.4162	M	0.72624	2.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80144	-0.1505	10	0.66056	D	0.02	.	14.4007	0.67044	0.071:0.0:0.929:0.0	.	510	O15072	ATS3_HUMAN	H	510	ENSP00000286657:P510H	ENSP00000286657:P510H	P	-	2	0	ADAMTS3	73400509	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.835000	0.99442	1.377000	0.46286	0.655000	0.94253	CCT	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252164.2		-	ENST00000286657.4	Missense_Mutation	SNP	4 : 73181645 - 73181645 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	302	51
SVIL	6840	broad.mit.edu	37	10	29769596	29769596	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:29769596G>A	ENST00000355867.4	-	29	5999	c.5247C>T	c.(5245-5247)atC>atT	p.I1749I	PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000535393.1_Silent_p.I663I|SVIL_ENST00000538146.1_Silent_p.I541I|SVIL_ENST00000460007.1_5'UTR|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000375398.2_Silent_p.I1749I|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000375400.3_Silent_p.I1323I|PTCHD3P1_ENST00000446807.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1749					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AAACGCTGGTGATCTCAAACT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	117	124			NA	NA	10		NA											NA				29769596		2203	4300	6503	SO:0001819	synonymous_variant			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321	6840	6840			11480	protein-coding gene	gene with protein product	archvillin	604126			NA	9382871	Standard		NM_003174	NA	Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.5247C>T	10.37:g.29769596G>A		NA	D3DRW9|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	37	CCDS7164.1																																																																																			SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047395.1		-	ENST00000355867.4	Silent	SNP	10 : 29769596 - 29769596 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	457	97
SEH1L	81929	broad.mit.edu	37	18	12955494	12955494	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12955494G>A	ENST00000262124.11	+	3	322	c.195G>A	c.(193-195)tgG>tgA	p.W65*	SEH1L_ENST00000399892.2_Nonsense_Mutation_p.W65*	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	65					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						GTGTGACATGGGCCCATCCTG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													183	162	169			NA	NA	18		NA											NA				12955494		2203	4300	6503	SO:0001587	stop_gained			BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415	81929	81929		WD repeat domain containing	30379	protein-coding gene	gene with protein product	sec13 like protein, nucleoporin Seh1	609263			NA	12196509, 14517296	Standard	NM_031216	XM_005258152	NA	Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.195G>A	18.37:g.12955494G>A	ENSP00000262124:p.Trp65*	NA	A8K5B1|Q8NFU6|Q96MH3|Q9C069	37	CCDS45832.1	.	.	.	.	.	.	.	.	.	.	G	38	6.828804	0.97869	.	.	ENSG00000085415	ENST00000399892;ENST00000262124	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.2401	19.6097	0.95600	0.0:0.0:1.0:0.0	.	.	.	.	X	65	.	ENSP00000262124:W65X	W	+	3	0	SEH1L	12945494	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.376000	0.97181	2.630000	0.89119	0.591000	0.81541	TGG	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458254.1		+	ENST00000262124.11	Nonsense_Mutation	SNP	18 : 12955494 - 12955494 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	611	113
NCKIPSD	51517	broad.mit.edu	37	3	48717248	48717248	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48717248C>T	ENST00000294129.2	-	7	1455	c.1336G>A	c.(1336-1338)Gcc>Acc	p.A446T	NCKIPSD_ENST00000341520.4_Missense_Mutation_p.A446T|NCKIPSD_ENST00000416649.2_Missense_Mutation_p.A439T	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	446	Leu-rich.				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGTAATAGGCCACCAAGGCC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	134	141			NA	NA	3		NA											NA				48717248		2203	4300	6503	SO:0001583	missense			AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672	51517	51517			15486	protein-coding gene	gene with protein product	dia interacting protein, diaphanous protein interacting protein, SH3 protein interacting with Nck, 90 kDa	606671			NA	10648423, 10619843	Standard	NM_016453	NM_016453	NA	Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.1336G>A	3.37:g.48717248C>T	ENSP00000294129:p.Ala446Thr	NA	B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	37	CCDS2776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.85|14.85	2.659780|2.659780	0.47572|0.47572	.|.	.|.	ENSG00000213672|ENSG00000213672	ENST00000341520;ENST00000416649;ENST00000294129|ENST00000415281	T;T;T|.	0.64803|.	0.9;-0.12;-0.12|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.287923|.	0.28706|.	U|.	0.014408|.	T|T	0.70150|0.70150	0.3191|0.3191	L|L	0.51422|0.51422	1.61|1.61	0.39345|0.39345	D|D	0.965654|0.965654	P;P|.	0.38767|.	0.514;0.646|.	B;B|.	0.36608|.	0.115;0.229|.	T|T	0.68780|0.68780	-0.5318|-0.5318	10|5	0.14656|.	T|.	0.56|.	.|.	18.7356|18.7356	0.91753|0.91753	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	446;439|.	Q9NZQ3;Q9NZQ3-3|.	SPN90_HUMAN;.|.	T|D	446;439;446|181	ENSP00000342621:A446T;ENSP00000389059:A439T;ENSP00000294129:A446T|.	ENSP00000294129:A446T|.	A|G	-|-	1|2	0|0	NCKIPSD|NCKIPSD	48692252|48692252	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.733000|3.733000	0.55029|0.55029	2.424000|2.424000	0.82194|0.82194	0.563000|0.563000	0.77884|0.77884	GCC|GGC	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257520.1		-	ENST00000294129.2	Missense_Mutation	SNP	3 : 48717248 - 48717248 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	440	96
COLEC11	78989	broad.mit.edu	37	2	3660908	3660908	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:3660908G>A	ENST00000236693.7	+	3	284	c.50G>A	c.(49-51)cGg>cAg	p.R17Q	COLEC11_ENST00000403096.3_Silent_p.A20A|COLEC11_ENST00000402922.1_Silent_p.A20A|COLEC11_ENST00000382062.2_Silent_p.A46A|COLEC11_ENST00000418971.2_Silent_p.A60A|COLEC11_ENST00000402794.1_Intron|COLEC11_ENST00000487365.1_Intron|COLEC11_ENST00000349077.4_Silent_p.A46A|COLEC11_ENST00000404205.1_Intron	NM_199235.2	NP_954705.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	0						collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CAGGGGATGCGGGAGAGAAGG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	30	30			NA	NA	2		NA											NA				3660908		2192	4298	6490	SO:0001583	missense			BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004	78989	78989		Collectins	17213	protein-coding gene	gene with protein product	Collectin K1	612502			NA		Standard	NM_024027	NM_024027	NA	Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000236693.7:c.50G>A	2.37:g.3660908G>A	ENSP00000236693:p.Arg17Gln	NA	A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|Q5CZ85|Q7Z6N1	37	CCDS1650.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930456	0.34096	.	.	ENSG00000118004	ENST00000236693	T	0.05081	3.5	4.62	-4.24	0.03777	.	.	.	.	.	T	0.03178	0.0093	.	.	.	0.80722	D	1	B	0.12630	0.006	B	0.04013	0.001	T	0.43475	-0.9389	8	0.33940	T	0.23	-1.1399	0.8773	0.01227	0.193:0.3053:0.1738:0.3279	.	17	Q9BWP8-9	.	Q	17	ENSP00000236693:R17Q	ENSP00000236693:R17Q	R	+	2	0	COLEC11	3638783	0.714000	0.27936	0.810000	0.32431	0.817000	0.46193	0.010000	0.13242	-0.790000	0.04492	-1.099000	0.02127	CGG	COLEC11-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206665.1		+	ENST00000236693.7	Missense_Mutation	SNP	2 : 3660908 - 3660908 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	117	22
ATG14	22863	broad.mit.edu	37	14	55836605	55836605	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55836605G>T	ENST00000247178.5	-	10	1246	c.1211C>A	c.(1210-1212)tCc>tAc	p.S404Y		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	404					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						AAATTCCATGGACTCCTCAAG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	82	82			NA	NA	14		NA											NA				55836605		2203	4300	6503	SO:0001583	missense			AB020638	CCDS32087.1	14q22.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000126775	ENSG00000126775	22863	22863			19962	protein-coding gene	gene with protein product	Barkor, beclin 1-associated autophagy-related key regulator	613515	KIAA0831, ATG14 autophagy related 14 homolog (S. cerevisiae)	KIAA0831	NA	18843052	Standard	NM_014924	NM_014924	NA	Approved	ATG14L	uc001xbx.2	Q6ZNE5	OTTHUMG00000172129	ENST00000247178.5:c.1211C>A	14.37:g.55836605G>T	ENSP00000247178:p.Ser404Tyr	NA	A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	37	CCDS32087.1	.	.	.	.	.	.	.	.	.	.	G	32	5.170899	0.94807	.	.	ENSG00000126775	ENST00000247178	T	0.37235	1.21	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.58047	0.2095	L	0.52573	1.65	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.57648	-0.7775	10	0.87932	D	0	-16.8472	19.9983	0.97395	0.0:0.0:1.0:0.0	.	404	Q6ZNE5	BAKOR_HUMAN	Y	404	ENSP00000247178:S404Y	ENSP00000247178:S404Y	S	-	2	0	ATG14	54906358	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.841000	0.99482	2.724000	0.93272	0.561000	0.74099	TCC	ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416992.1		-	ENST00000247178.5	Missense_Mutation	SNP	14 : 55836605 - 55836605 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	562	83
TRIM33	51592	broad.mit.edu	37	1	114968227	114968227	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114968227C>T	ENST00000358465.2	-	9	1622	c.1539G>A	c.(1537-1539)caG>caA	p.Q513Q	TRIM33_ENST00000369543.2_Silent_p.Q513Q|TRIM33_ENST00000450349.2_Silent_p.Q121Q	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	513					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGAGTCGAAGCTGTGCTAAGT	0.458		NA	T	RET	papillary thyroid									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1p13	51592	 tripartite motif-containing 33 (PTC7,TIF1G)		E	0													343	299	314			NA	NA	1		NA											NA				114968227		2203	4300	6503	SO:0001819	synonymous_variant			AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323	51592	51592		Tripartite motif containing / Tripartite motif containing, Zinc fingers, PHD-type, RING-type (C3HC4) zinc fingers	16290	protein-coding gene	gene with protein product	transcriptional intermediary factor 1 gamma, ret-fused gene 7	605769	tripartite motif-containing 33		NA	11331580, 10022127	Standard	NM_015906	XM_005270936	NA	Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1539G>A	1.37:g.114968227C>T		NA	O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	37	CCDS872.1	.	.	.	.	.	.	.	.	.	.	C	8.466	0.856383	0.17106	.	.	ENSG00000197323	ENST00000448034	.	.	.	5.23	2.34	0.29019	.	.	.	.	.	T	0.45935	0.1367	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38200	-0.9672	4	.	.	.	-6.7607	10.5993	0.45358	0.0:0.7899:0.0:0.2101	.	.	.	.	N	250	.	.	S	-	2	0	TRIM33	114769750	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.200000	0.42724	0.305000	0.22832	-0.157000	0.13467	AGC	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032854.1		-	ENST00000358465.2	Silent	SNP	1 : 114968227 - 114968227 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1018	188
ALK	238	broad.mit.edu	37	2	30142927	30142927	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:30142927C>T	ENST00000389048.3	-	1	1505	c.599G>A	c.(598-600)aGa>aAa	p.R200K	ALK_ENST00000431873.1_Missense_Mutation_p.R200K	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	200					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CCTTCCCTCTCTGCCCACTTC	0.622		NA	T, Mis, A	NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22	ALCL, NSCLC, Neuroblastoma	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		L, E, M	0													39	47	44			NA	NA	2		NA											NA				30142927		2203	4298	6501	SO:0001583	missense	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094	238	238		CD molecules	427	protein-coding gene	gene with protein product		105590	anaplastic lymphoma kinase (Ki-1)		NA	8122112	Standard	NM_004304	NM_004304	NA	Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.599G>A	2.37:g.30142927C>T	ENSP00000373700:p.Arg200Lys	NA	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	37	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805230	0.70682	.	.	ENSG00000171094	ENST00000389048;ENST00000431873	T;T	0.79454	-1.27;2.77	5.33	5.33	0.75918	.	.	.	.	.	T	0.67571	0.2907	N	0.24115	0.695	0.28441	N	0.916784	B	0.19583	0.037	B	0.14023	0.01	T	0.53865	-0.8378	8	.	.	.	.	17.9759	0.89127	0.0:1.0:0.0:0.0	.	200	Q9UM73	ALK_HUMAN	K	200	ENSP00000373700:R200K;ENSP00000414027:R200K	.	R	-	2	0	ALK	29996431	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.041000	0.49807	2.652000	0.90054	0.655000	0.94253	AGA	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324994.1		-	ENST00000389048.3	Missense_Mutation	SNP	2 : 30142927 - 30142927 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	96
LGI4	163175	broad.mit.edu	37	19	35616231	35616231	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35616231G>T	ENST00000310123.3	-	9	1999	c.1480C>A	c.(1480-1482)Ctg>Atg	p.L494M	LGI4_ENST00000493050.1_5'UTR|LGI4_ENST00000392225.3_3'UTR	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	494						extracellular region				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GGAGGCCCCAGCTCCTGCAGT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	32	30			NA	NA	19		NA											NA				35616231		2203	4300	6503	SO:0001583	missense			AJ487519	CCDS12444.1	19q13.13	2008-07-03			ENSG00000153902	ENSG00000153902	163175	163175			18712	protein-coding gene	gene with protein product		608303			NA	12023020	Standard		NM_139284	NA	Approved		uc002nxx.2	Q8N135	OTTHUMG00000044558	ENST00000310123.3:c.1480C>A	19.37:g.35616231G>T	ENSP00000312273:p.Leu494Met	NA	B2RN53|B9EGS7|Q5M8T1	37	CCDS12444.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908672	0.52439	.	.	ENSG00000153902	ENST00000310123;ENST00000437421	T	0.69175	-0.38	5.15	2.97	0.34412	.	0.000000	0.51477	D	0.000092	T	0.75532	0.3862	M	0.67397	2.05	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.74509	-0.3642	10	0.87932	D	0	.	7.5644	0.27870	0.2695:0.0:0.7305:0.0	.	494	Q8N135	LGI4_HUMAN	M	494;495	ENSP00000312273:L494M	ENSP00000312273:L494M	L	-	1	2	LGI4	40308071	1.000000	0.71417	1.000000	0.80357	0.544000	0.35116	2.295000	0.43576	0.552000	0.29026	-0.350000	0.07774	CTG	LGI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000103963.1		-	ENST00000310123.3	Missense_Mutation	SNP	19 : 35616231 - 35616231 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	278	61
NDUFS1	4719	broad.mit.edu	37	2	207012502	207012502	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207012502T>C	ENST00000233190.6	-	6	661	c.395A>G	c.(394-396)gAc>gGc	p.D132G	NDUFS1_ENST00000449699.1_Missense_Mutation_p.D132G|NDUFS1_ENST00000423725.1_Missense_Mutation_p.D75G|NDUFS1_ENST00000432169.1_Missense_Mutation_p.D21G|NDUFS1_ENST00000440274.1_Missense_Mutation_p.D96G|NDUFS1_ENST00000457011.1_Missense_Mutation_p.D16G|NDUFS1_ENST00000455934.2_Missense_Mutation_p.D146G	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	NA					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	ACCTCCCTGGTCACAAATAGG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	98	100			NA	NA	2		NA											NA				207012502		2203	4300	6503	SO:0001583	missense				CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	4719	4719	1.6.5.3	Mitochondrial respiratory chain complex / Complex I	7707	protein-coding gene	gene with protein product	complex I 75kDa subunit, NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial	157655	NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)		NA	1935949	Standard	NM_005006	NM_005006	NA	Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.395A>G	2.37:g.207012502T>C	ENSP00000233190:p.Asp132Gly	NA	Q53TR8|Q8N1C4|Q8TCC9	37	CCDS2366.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.698959	0.88830	.	.	ENSG00000023228	ENST00000233190;ENST00000423725;ENST00000457011;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000432169	T;T;T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46	4.76	4.76	0.60689	NADH:ubiquinone oxidoreductase, 75kDa subunit, conserved site (1);NADH:ubiquinone oxidoreductase, subunit G, iron-sulphur binding (2);	0.000000	0.85682	D	0.000000	D	0.91643	0.7359	M	0.92268	3.29	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.93671	0.6990	10	0.87932	D	0	-15.8477	14.5723	0.68220	0.0:0.0:0.0:1.0	.	21;96;146;132	B4DPG1;E7ENF3;B4DJA0;P28331	.;.;.;NDUS1_HUMAN	G	132;75;16;96;146;132;21	ENSP00000233190:D132G;ENSP00000397760:D75G;ENSP00000400976:D16G;ENSP00000409766:D96G;ENSP00000392709:D146G;ENSP00000399912:D132G;ENSP00000409689:D21G	ENSP00000233190:D132G	D	-	2	0	NDUFS1	206720747	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.997000	0.88414	1.890000	0.54733	0.482000	0.46254	GAC	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256391.4		-	ENST00000233190.6	Missense_Mutation	SNP	2 : 207012502 - 207012502 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	667	189
DYRK4	8798	broad.mit.edu	37	12	4721773	4721773	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4721773C>T	ENST00000540757.2	+	12	1370	c.1210C>T	c.(1210-1212)Cgg>Tgg	p.R404W	RP11-500M8.7_ENST00000536588.1_Intron|DYRK4_ENST00000543431.1_Missense_Mutation_p.R404W|DYRK4_ENST00000545342.1_Missense_Mutation_p.R41W|DYRK4_ENST00000010132.5_Missense_Mutation_p.R404W	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	404						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			TCATCAGTCTCGGAACCTCAA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TRP/ARG	0,4406		0,0,2203	103	95	98		1210	-0.5	0	12		98	1,8599	1.2+/-3.3	0,1,4299	no	missense	DYRK4	NM_003845.1	101	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign	404/521	4721773	1,13005	2203	4300	6503	SO:0001583	missense			Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219	8798	8798			3095	protein-coding gene	gene with protein product		609181			NA	9748265	Standard		NM_003845	NA	Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.1210C>T	12.37:g.4721773C>T	ENSP00000441755:p.Arg404Trp	NA	Q8NEF2|Q92631	37	CCDS8530.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.19|10.19	1.281722|1.281722	0.23392|0.23392	0.0|0.0	1.16E-4|1.16E-4	ENSG00000010219|ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431;ENST00000545342|ENST00000544671	T;T;T;T;T|T	0.74737|0.71934	2.04;2.04;2.04;2.04;-0.87|-0.61	5.28|5.28	-0.478|-0.478	0.12093|0.12093	Protein kinase-like domain (1);|.	0.396379|.	0.24742|.	N|.	0.035971|.	T|T	0.63628|0.63628	0.2527|0.2527	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	0.999999|0.999999	B;D;D;B|.	0.71674|.	0.007;0.984;0.998;0.219|.	B;B;P;B|.	0.52856|.	0.003;0.302;0.711;0.012|.	T|T	0.54166|0.54166	-0.8334|-0.8334	10|7	0.72032|0.33141	D|T	0.01|0.24	.|.	5.7225|5.7225	0.17995|0.17995	0.5772:0.2586:0.0:0.1642|0.5772:0.2586:0.0:0.1642	.|.	519;118;404;404|.	F5H6L9;B4E1A4;Q9NR20-2;Q9NR20|.	.;.;.;DYRK4_HUMAN|.	W|L	519;404;404;404;41|65	ENSP00000437534:R519W;ENSP00000441755:R404W;ENSP00000010132:R404W;ENSP00000439697:R404W;ENSP00000446005:R41W|ENSP00000438769:S65L	ENSP00000010132:R404W|ENSP00000438769:S65L	R|S	+|+	1|2	2|0	DYRK4|DYRK4	4592034|4592034	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.457000|0.457000	0.32468|0.32468	0.250000|0.250000	0.18235|0.18235	0.053000|0.053000	0.16036|0.16036	-0.152000|-0.152000	0.13540|0.13540	CGG|TCG	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398780.2		+	ENST00000540757.2	Missense_Mutation	SNP	12 : 4721773 - 4721773 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	626	100
SLC26A3	1811	broad.mit.edu	37	7	107423656	107423656	+	Silent	SNP	G	G	A	rs146803737		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107423656G>A	ENST00000340010.5	-	9	1297	c.1113C>T	c.(1111-1113)ggC>ggT	p.G371G	SLC26A3_ENST00000422236.2_Silent_p.G336G	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	371					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TTACCTGATTGCCATCAAGTG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4405	2.1+/-5.4	0,1,2202	105	98	100		1113	3.5	1	7	dbSNP_134	100	0,8600		0,0,4300	no	coding-synonymous	SLC26A3	NM_000111.2		0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077		371/765	107423656	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138	1811	1811		Solute carriers	3018	protein-coding gene	gene with protein product		126650	congenital chloride diarrhea, solute carrier family 26, member 3	DRA, CLD	NA	8020951, 11087667	Standard	NM_000111	NM_000111	NA	Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1113C>T	7.37:g.107423656G>A		NA		37	CCDS5748.1																																																																																			SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337190.1		-	ENST00000340010.5	Silent	SNP	7 : 107423656 - 107423656 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	452	101
TTN	7273	broad.mit.edu	37	2	179403774	179403774	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179403774A>C	ENST00000589042.1	-	353	99112	c.98888T>G	c.(98887-98889)gTt>gGt	p.V32963G	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V30395G|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V31322G|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V24090G|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V24023G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V23898G|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31322							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCATCGGGAACAAGCCCTGT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													222	230	227			NA	NA	2		NA											NA				179403774		2143	4231	6374	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.98888T>G	2.37:g.179403774A>C	ENSP00000467141:p.Val32963Gly	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	A	16.22	3.060845	0.55432	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	6.06	6.06	0.98353	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70902	0.3277	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.68483	0.958;0.958;0.958;0.958	T	0.73672	-0.3909	9	0.87932	D	0	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	23898;24023;24090;31322	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	30395;23898;24090;24023;23895	ENSP00000343764:V30395G;ENSP00000434586:V23898G;ENSP00000340554:V24090G;ENSP00000352154:V24023G	ENSP00000340554:V24090G	V	-	2	0	TTN	179112020	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	7.440000	0.80464	2.324000	0.78689	0.533000	0.62120	GTT	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179403774 - 179403774 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	394	17
OR51V1	283111	broad.mit.edu	37	11	5221587	5221587	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5221587C>T	ENST00000321255.1	-	1	343	c.344G>A	c.(343-345)gGt>gAt	p.G115D		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGACAGACCATGGATGAA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	58	58			NA	NA	11		NA											NA				5221587		2201	4298	6499	SO:0001583	missense			BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742	283111	283111		GPCR / Class A : Olfactory receptors	19597	protein-coding gene	gene with protein product				OR51A12	NA		Standard	NM_001004760	NM_001004760	NA	Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.344G>A	11.37:g.5221587C>T	ENSP00000321729:p.Gly115Asp	NA		37	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.888099	0.52014	.	.	ENSG00000176742	ENST00000321255	T	0.02709	4.19	5.48	3.63	0.41609	GPCR, rhodopsin-like superfamily (1);	0.141905	0.32134	N	0.006537	T	0.10637	0.0260	M	0.81497	2.545	0.09310	N	1	D	0.67145	0.996	D	0.76071	0.987	T	0.18777	-1.0326	10	0.35671	T	0.21	.	2.7779	0.05352	0.1462:0.5646:0.1419:0.1473	.	115	Q9H2C8	O51V1_HUMAN	D	115	ENSP00000321729:G115D	ENSP00000321729:G115D	G	-	2	0	OR51V1	5178163	0.000000	0.05858	0.153000	0.22517	0.985000	0.73830	0.025000	0.13577	0.881000	0.35993	0.650000	0.86243	GGT	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000142965.1		-	ENST00000321255.1	Missense_Mutation	SNP	11 : 5221587 - 5221587 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	257	42
TSC2	7249	broad.mit.edu	37	16	2136299	2136299	+	Missense_Mutation	SNP	G	G	A	rs137854039		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2136299G>A	ENST00000219476.3	+	37	5398	c.4768G>A	c.(4768-4770)Gac>Aac	p.D1590N	TSC2_ENST00000439673.2_Missense_Mutation_p.D1487N|TSC2_ENST00000401874.2_Missense_Mutation_p.D1523N|TSC2_ENST00000382538.6_Missense_Mutation_p.D1475N|TSC2_ENST00000350773.4_Missense_Mutation_p.D1567N|TSC2_ENST00000568454.1_Missense_Mutation_p.D1534N|TSC2_ENST00000353929.4_Missense_Mutation_p.D1547N	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1590	Rap-GAP.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CTGCCAGCCGGACAAGGTGTA	0.627		NA	D, Mis, N, F, S			hamartoma, renal cell			Tuberous Sclerosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		E, O	0													121	95	104			NA	NA	16		NA											NA				2136299		2198	4299	6497	SO:0001583	missense	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197	7249	7249			12363	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 160	191092		TSC4	NA	1303246, 7558029	Standard	NM_000548	NM_001077183	NA	Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.4768G>A	16.37:g.2136299G>A	ENSP00000219476:p.Asp1590Asn	NA	A7E2E2|B4DIQ7|B4DRN2|C9J378|O75275|Q4LE71|Q8TAZ1	37	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.851442	0.71719	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.94862	-3.54;-3.54;-3.54;-3.54;-3.54	4.47	3.51	0.40186	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.91858	0.7423	N	0.04959	-0.14	0.80722	D	1	D;D;D;B;D;D;D	0.89917	0.999;0.999;0.998;0.213;0.998;0.998;1.0	D;D;D;B;D;D;D	0.87578	0.998;0.996;0.997;0.345;0.997;0.997;0.998	D	0.88000	0.2755	10	0.11794	T	0.64	-24.0776	13.8775	0.63662	0.0:0.0:0.8464:0.1536	.	1475;1487;1567;365;1546;1523;1590	B4DIL8;P49815-6;P49815-4;B3KSR9;P49815-3;P49815-5;P49815	.;.;.;.;.;.;TSC2_HUMAN	N	1590;1524;1547;1487;1475;1567	ENSP00000219476:D1590N;ENSP00000248099:D1547N;ENSP00000399232:D1487N;ENSP00000371978:D1475N;ENSP00000344383:D1567N	ENSP00000219476:D1590N	D	+	1	0	TSC2	2076300	1.000000	0.71417	0.819000	0.32651	0.706000	0.40770	7.741000	0.84997	1.077000	0.40990	0.561000	0.74099	GAC	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250657.2		+	ENST00000219476.3	Missense_Mutation	SNP	16 : 2136299 - 2136299 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	303	65
SSX2IP	117178	broad.mit.edu	37	1	85124057	85124057	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85124057C>A	ENST00000437941.2	-	8	1293	c.941G>T	c.(940-942)aGc>aTc	p.S314I	SSX2IP_ENST00000605755.1_Missense_Mutation_p.S314I|SSX2IP_ENST00000370612.4_Missense_Mutation_p.S341I|SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000342203.3_Missense_Mutation_p.S341I	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	341					cell adhesion	nucleus|protein complex		p.S341N(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTTCTGATGCTGTTTGTAAG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	ovary(1)											146	132	137			NA	NA	1		NA											NA				85124057		2203	4300	6503	SO:0001583	missense				CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155	117178	117178			16509	protein-coding gene	gene with protein product		608690			NA		Standard	NM_014021	NM_014021	NA	Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000437941.2:c.941G>T	1.37:g.85124057C>A	ENSP00000412781:p.Ser314Ile	NA	A8K8W0|D3DT13|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	37	CCDS53337.1	.	.	.	.	.	.	.	.	.	.	C	33	5.194433	0.94960	.	.	ENSG00000117155	ENST00000342203;ENST00000437941;ENST00000544699;ENST00000370612	T;T	0.55234	0.56;0.53	5.81	5.81	0.92471	.	0.035186	0.85682	D	0.000000	T	0.66386	0.2784	M	0.74258	2.255	0.80722	D	1	D;D;D	0.58268	0.982;0.97;0.97	P;P;P	0.59171	0.853;0.791;0.791	T	0.69101	-0.5234	10	0.87932	D	0	.	20.0782	0.97758	0.0:1.0:0.0:0.0	.	337;341;314	F5H549;Q9Y2D8;B4DFE3	.;ADIP_HUMAN;.	I	341;314;337;341	ENSP00000340279:S341I;ENSP00000412781:S314I	ENSP00000340279:S341I	S	-	2	0	SSX2IP	84896645	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.442000	0.80503	2.746000	0.94184	0.655000	0.94253	AGC	SSX2IP-202	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000468712.1		-	ENST00000437941.2	Missense_Mutation	SNP	1 : 85124057 - 85124057 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	276	29
ZNF317	57693	broad.mit.edu	37	19	9271217	9271217	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9271217T>C	ENST00000247956.6	+	7	1201	c.896T>C	c.(895-897)gTt>gCt	p.V299A	ZNF317_ENST00000360385.3_Missense_Mutation_p.V267A	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CACATGCGAGTTCACACTGGC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	68	69			NA	NA	19		NA											NA				9271217		2203	4300	6503	SO:0001583	missense			AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803	57693	57693		Zinc fingers, C2H2-type, -	13507	protein-coding gene	gene with protein product		613864			NA	10997877, 11688974	Standard	NM_020933	NM_020933	NA	Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.896T>C	19.37:g.9271217T>C	ENSP00000247956:p.Val299Ala	NA	Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	37	CCDS12210.1	.	.	.	.	.	.	.	.	.	.	T	11.86	1.763244	0.31228	.	.	ENSG00000130803	ENST00000247956;ENST00000360385	T;T	0.09817	2.94;2.94	3.61	1.32	0.21799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.417750	0.17679	N	0.165690	T	0.06735	0.0172	N	0.17564	0.495	0.09310	N	1	B;B	0.25772	0.11;0.134	B;B	0.29077	0.059;0.098	T	0.31998	-0.9923	10	0.87932	D	0	-17.6165	6.4498	0.21898	0.0:0.2528:0.0:0.7472	.	267;299	Q96PQ6-2;Q96PQ6	.;ZN317_HUMAN	A	299;267	ENSP00000247956:V299A;ENSP00000353554:V267A	ENSP00000247956:V299A	V	+	2	0	ZNF317	9132217	0.000000	0.05858	0.000000	0.03702	0.825000	0.46686	-0.182000	0.09726	0.218000	0.20820	0.482000	0.46254	GTT	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448995.1		+	ENST00000247956.6	Missense_Mutation	SNP	19 : 9271217 - 9271217 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	437	98
UNC13A	23025	broad.mit.edu	37	19	17766716	17766716	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17766716G>A	ENST00000519716.2	-	10	1258	c.1259C>T	c.(1258-1260)gCt>gTt	p.A420V	UNC13A_ENST00000252773.7_Missense_Mutation_p.A420V|UNC13A_ENST00000428389.2_Missense_Mutation_p.A508V|UNC13A_ENST00000552293.1_Missense_Mutation_p.A420V|UNC13A_ENST00000550896.1_Missense_Mutation_p.A420V|UNC13A_ENST00000551649.1_Missense_Mutation_p.A420V	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	420					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGGTGGCTCAGCCTCAGGGAT	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	32	31			NA	NA	19		NA											NA				17766716		2097	4210	6307	SO:0001583	missense			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477	23025	23025			23150	protein-coding gene	gene with protein product		609894			NA		Standard	XM_038604	NM_001080421	NA	Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.1259C>T	19.37:g.17766716G>A	ENSP00000429562:p.Ala420Val	NA		37	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559814	0.27827	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.80994	-1.42;-1.44;-1.42;-1.29;-1.29;-1.42	4.02	4.02	0.46733	.	0.680491	0.13280	U	0.399808	T	0.67785	0.2930	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.54860	-0.8230	10	0.28530	T	0.3	0.0361	11.6373	0.51211	0.0:0.0:1.0:0.0	.	420	Q9UPW8	UN13A_HUMAN	V	420;508;420;420;420;420	ENSP00000429562:A420V;ENSP00000400409:A508V;ENSP00000252773:A420V;ENSP00000447236:A420V;ENSP00000447572:A420V;ENSP00000446831:A420V	ENSP00000252773:A420V	A	-	2	0	UNC13A	17627716	0.000000	0.05858	0.039000	0.18376	0.019000	0.09904	0.074000	0.14662	1.786000	0.52430	0.491000	0.48974	GCT	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376169.2		-	ENST00000519716.2	Missense_Mutation	SNP	19 : 17766716 - 17766716 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	136	20
TEX37	200523	broad.mit.edu	37	2	88828668	88828668	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88828668A>G	ENST00000303254.3	+	4	361	c.219A>G	c.(217-219)agA>agG	p.R73R		NM_152670.2	NP_689883.1			testis expressed 37	NA											NA						CTTTCAAAAGACCCCACATGA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	107	109			NA	NA	2		NA											NA				88828668		2203	4300	6503	SO:0001819	synonymous_variant			AK058098	CCDS2003.1	2p11.2	2014-01-28	2012-09-14	2012-09-14	ENSG00000172073	ENSG00000172073	200523	200523			26341	protein-coding gene	gene with protein product	Testis-Specific Conserved gene 21kDa		chromosome 2 open reading frame 51	C2orf51	NA	17091336	Standard	NM_152670	NM_152670	NA	Approved	FLJ25369, TSC21	uc002stb.2	Q96LM6	OTTHUMG00000130332	ENST00000303254.3:c.219A>G	2.37:g.88828668A>G		NA		37	CCDS2003.1																																																																																			TEX37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252682.1		+	ENST00000303254.3	Silent	SNP	2 : 88828668 - 88828668 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	584	94
RBM25	58517	broad.mit.edu	37	14	73570180	73570180	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73570180G>A	ENST00000261973.7	+	10	1433	c.1148G>A	c.(1147-1149)cGa>cAa	p.R383Q	RBM25_ENST00000527432.1_Missense_Mutation_p.R383Q	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	383	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		GATCGCAGTCGATCAAGGTAA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	57	60			NA	NA	14		NA											NA				73570180		2203	4300	6503	SO:0001583	missense			BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707	58517	58517		RNA binding motif (RRM) containing	23244	protein-coding gene	gene with protein product	functional spliceosome-associated protein 94	612427	RNA-binding region (RNP1, RRM) containing 7	RNPC7	NA	9847074, 7596406	Standard	XM_027330	NM_021239	NA	Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1148G>A	14.37:g.73570180G>A	ENSP00000261973:p.Arg383Gln	NA	A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	37	CCDS32113.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123003	0.56613	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.58940	0.3;0.3	5.75	5.75	0.90469	.	0.055040	0.64402	D	0.000002	T	0.60818	0.2298	N	0.19112	0.55	0.80722	D	1	D	0.58620	0.983	P	0.61201	0.885	T	0.58335	-0.7654	10	0.32370	T	0.25	.	17.7126	0.88326	0.0:0.0:1.0:0.0	.	383	P49756	RBM25_HUMAN	Q	383	ENSP00000261973:R383Q;ENSP00000431150:R383Q	ENSP00000261973:R383Q	R	+	2	0	RBM25	72639933	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.547000	0.90665	2.712000	0.92718	0.655000	0.94253	CGA	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394966.1		+	ENST00000261973.7	Missense_Mutation	SNP	14 : 73570180 - 73570180 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	194	32
IQCG	84223	broad.mit.edu	37	3	197665544	197665544	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197665544C>T	ENST00000265239.6	-	5	814	c.390G>A	c.(388-390)ttG>ttA	p.L130L	IQCG_ENST00000453254.1_Silent_p.L130L|IQCG_ENST00000455191.1_Silent_p.L130L|IQCG_ENST00000480302.1_5'UTR	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	130										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TGATTTCTGGCAAGTTGGGTC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													258	265	263			NA	NA	3		NA											NA				197665544		2203	4300	6503	SO:0001819	synonymous_variant			AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473	84223	84223			25251	protein-coding gene	gene with protein product	dynein regulatory complex subunit 9	612477			NA	11230166, 23427265, 24362311	Standard	NM_032263	NM_032263	NA	Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.390G>A	3.37:g.197665544C>T		NA	Q9BST2|Q9HAG8	37	CCDS3331.1																																																																																			IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339730.1		-	ENST00000265239.6	Silent	SNP	3 : 197665544 - 197665544 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1820	308
ERBB3	2065	broad.mit.edu	37	12	56492614	56492614	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56492614G>T	ENST00000267101.3	+	23	3204	c.2764G>T	c.(2764-2766)Gac>Tac	p.D922Y	ERBB3_ENST00000450146.2_Missense_Mutation_p.D279Y|ERBB3_ENST00000553131.1_Missense_Mutation_p.D163Y|ERBB3_ENST00000549832.1_Missense_Mutation_p.D42Y|ERBB3_ENST00000415288.2_Missense_Mutation_p.D863Y	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	922	Protein kinase.				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGAAGTACCAGACCTGCTAGA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	117	121			NA	NA	12		NA											NA				56492614		2203	4300	6503	SO:0001583	missense			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361	2065	2065			3431	protein-coding gene	gene with protein product		190151	lethal congenital contracture syndrome 2	LCCS2	NA		Standard		NM_001982	NA	Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.2764G>T	12.37:g.56492614G>T	ENSP00000267101:p.Asp922Tyr	NA	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	37	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323234	0.81580	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68	6.17	6.17	0.99709	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.88544	0.6465	L	0.41824	1.3	0.53688	D	0.999977	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.989;0.983;0.992	D	0.88489	0.3074	10	0.87932	D	0	.	19.6509	0.95805	0.0:0.0:1.0:0.0	.	863;42;922	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	Y	922;279;863;45;163;42	ENSP00000267101:D922Y;ENSP00000399178:D279Y;ENSP00000408340:D863Y;ENSP00000449129:D163Y;ENSP00000448729:D42Y	ENSP00000267101:D922Y	D	+	1	0	ERBB3	54778881	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.698000	0.54771	2.941000	0.99782	0.655000	0.94253	GAC	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407619.3		+	ENST00000267101.3	Missense_Mutation	SNP	12 : 56492614 - 56492614 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	507	92
OTUD7A	161725	broad.mit.edu	37	15	31793994	31793994	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31793994G>T	ENST00000307050.4	-	8	1141	c.1049C>A	c.(1048-1050)cCt>cAt	p.P350H	OTUD7A_ENST00000382902.1_Missense_Mutation_p.P357H	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	350	Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TCTGTTGGGAGGGACCTCCAA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	131	137			NA	NA	15		NA											NA				31793994		2202	4300	6502	SO:0001583	missense			AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918	161725	161725		OTU domain containing	20718	protein-coding gene	gene with protein product		612024	chromosome 15 open reading frame 16, OTU domain containing 7, OTU domain containing 7A	C15orf16, OTUD7	NA	23827681	Standard	NM_130901	NM_130901	NA	Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.1049C>A	15.37:g.31793994G>T	ENSP00000305926:p.Pro350His	NA	Q8IWK5	37	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676297	0.67928	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.32988	1.43;1.43	4.84	3.92	0.45320	Ovarian tumour, otubain (2);	0.107611	0.64402	D	0.000004	T	0.50292	0.1607	M	0.77616	2.38	0.43835	D	0.996413	D;D	0.76494	0.998;0.999	P;D	0.65323	0.891;0.934	T	0.52540	-0.8562	10	0.72032	D	0.01	-4.3143	8.354	0.32318	0.2337:0.0:0.7663:0.0	.	357;350	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	H	350;357	ENSP00000305926:P350H;ENSP00000372358:P357H	ENSP00000305926:P350H	P	-	2	0	OTUD7A	29581286	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.820000	0.69250	1.135000	0.42183	0.655000	0.94253	CCT	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251393.2		-	ENST00000307050.4	Missense_Mutation	SNP	15 : 31793994 - 31793994 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	603	104
USP31	57478	broad.mit.edu	37	16	23093780	23093780	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23093780T>C	ENST00000219689.7	-	12	1928	c.1929A>G	c.(1927-1929)atA>atG	p.I643M		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	643					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TCTTTAGATGTATAATAAGCA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	86	89			NA	NA	16		NA											NA				23093780		2197	4300	6497	SO:0001583	missense			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404	57478	57478		Ubiquitin-specific peptidases	20060	protein-coding gene	gene with protein product			ubiquitin specific protease 31		NA	12838346	Standard	NM_020718	NM_020718	NA	Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.1929A>G	16.37:g.23093780T>C	ENSP00000219689:p.Ile643Met	NA	Q6AW97|Q6ZTC0|Q6ZTN2|Q9ULL7	37	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	T	19.05	3.751067	0.69533	.	.	ENSG00000103404	ENST00000219689	T	0.04083	3.71	4.75	-7.99	0.01131	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.155815	0.43110	D	0.000605	T	0.04182	0.0116	L	0.38175	1.15	0.80722	D	1	D	0.55800	0.973	P	0.49226	0.603	T	0.32508	-0.9904	10	0.72032	D	0.01	-2.6077	5.5788	0.17238	0.1062:0.1315:0.5449:0.2175	.	643	Q70CQ4	UBP31_HUMAN	M	643	ENSP00000219689:I643M	ENSP00000219689:I643M	I	-	3	3	USP31	23001281	0.017000	0.18338	0.011000	0.14972	0.999000	0.98932	-1.059000	0.03479	-1.905000	0.01090	0.528000	0.53228	ATA	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000211607.1		-	ENST00000219689.7	Missense_Mutation	SNP	16 : 23093780 - 23093780 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	459	94
ARHGEF37	389337	broad.mit.edu	37	5	149006812	149006812	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149006812C>A	ENST00000333677.6	+	11	1801	c.1638C>A	c.(1636-1638)ggC>ggA	p.G546G		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	546	SH3 1.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GCAACAGCGGCCGCTGGCTGG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	75	71			NA	NA	5		NA											NA				149006812		2048	4171	6219	SO:0001819	synonymous_variant			BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111	389337	389337		Rho guanine nucleotide exchange factors	34430	protein-coding gene	gene with protein product					NA		Standard	NM_001001669	XM_005268448	NA	Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.1638C>A	5.37:g.149006812C>A		NA	Q6ZW51	37	CCDS43385.1																																																																																			ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373763.1		+	ENST00000333677.6	Silent	SNP	5 : 149006812 - 149006812 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	574	15
CDH5	1003	broad.mit.edu	37	16	66429998	66429998	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66429998C>A	ENST00000539168.1	+	0	405				CDH5_ENST00000341529.3_Missense_Mutation_p.F418L			P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	NA					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		AGGGCCAGTTCTTCCGAGTCA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	85	87			NA	NA	16		NA											NA				66429998		2201	4300	6501	SO:0001623	5_prime_UTR_variant			X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776	1003	1003		CD molecules, Cadherins / Major cadherins	1764	protein-coding gene	gene with protein product	VE-cadherin	601120	cadherin 5, type 2, VE-cadherin (vascular epithelium)		NA	2059658	Standard	NM_001795	NM_001795	NA	Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000539168.1:c.-430C>A	16.37:g.66429998C>A		NA		37		.	.	.	.	.	.	.	.	.	.	C	11.90	1.778105	0.31502	.	.	ENSG00000179776	ENST00000341529;ENST00000539262	T	0.69685	-0.42	4.96	3.93	0.45458	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.51753	0.1693	N	0.25789	0.76	0.50813	D	0.999897	B	0.17852	0.024	B	0.29077	0.098	T	0.48927	-0.8991	9	0.34782	T	0.22	.	7.1131	0.25401	0.1751:0.727:0.0:0.0979	.	418	P33151	CADH5_HUMAN	L	418;159	ENSP00000344115:F418L	ENSP00000344115:F418L	F	+	3	2	CDH5	64987499	0.905000	0.30787	0.999000	0.59377	0.590000	0.36582	0.389000	0.20751	2.590000	0.87494	0.561000	0.74099	TTC	CDH5-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000421001.2		+	ENST00000539168.1	5'UTR	SNP	16 : 66429998 - 66429998 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	301	78
PLCB3	5331	broad.mit.edu	37	11	64021957	64021957	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64021957C>A	ENST00000540288.1	+	2	273	c.170C>A	c.(169-171)cCc>cAc	p.P57H	PLCB3_ENST00000279230.6_Missense_Mutation_p.P57H|PLCB3_ENST00000325234.5_Intron	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	57					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						TGGACGGGCCCCAACATGGTG	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	124	127			NA	NA	11		NA											NA				64021957		2201	4297	6498	SO:0001583	missense			Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	5331	5331	3.1.4.11		9056	protein-coding gene	gene with protein product		600230			NA	7849701	Standard		NM_000932	NA	Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.170C>A	11.37:g.64021957C>A	ENSP00000443631:p.Pro57His	NA	A5PKZ6	37	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	c	14.96	2.690530	0.48097	.	.	ENSG00000149782	ENST00000279230;ENST00000540288	T;T	0.42900	0.96;0.96	4.37	4.37	0.52481	.	2.609590	0.03948	N	0.288080	T	0.48003	0.1476	L	0.29908	0.895	0.80722	D	1	P	0.49559	0.925	P	0.49752	0.621	T	0.32613	-0.9900	10	0.72032	D	0.01	.	14.2399	0.65950	0.0:1.0:0.0:0.0	.	57	Q01970	PLCB3_HUMAN	H	57	ENSP00000279230:P57H;ENSP00000443631:P57H	ENSP00000279230:P57H	P	+	2	0	PLCB3	63778533	1.000000	0.71417	1.000000	0.80357	0.286000	0.27126	1.618000	0.36954	2.139000	0.66308	0.550000	0.68814	CCC	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396405.1		+	ENST00000540288.1	Missense_Mutation	SNP	11 : 64021957 - 64021957 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1037	202
LMF1	64788	broad.mit.edu	37	16	921238	921238	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:921238G>T	ENST00000262301.11	-	7	1019	c.1001C>A	c.(1000-1002)tCt>tAt	p.S334Y	LMF1_ENST00000543238.1_Missense_Mutation_p.S97Y|LMF1_ENST00000568268.1_5'UTR|LMF1_ENST00000399843.2_Missense_Mutation_p.S334Y|LMF1_ENST00000568897.1_Missense_Mutation_p.S117Y	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN	lipase maturation factor 1	334						endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				GCCTGGCCCAGAGGGGAACAA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	34	32			NA	NA	16		NA											NA				921238		2027	4161	6188	SO:0001583	missense			AK022743	CCDS45373.1	16p13.3	2008-02-05	2007-11-29	2007-11-29	ENSG00000103227	ENSG00000103227	64788	64788			14154	protein-coding gene	gene with protein product		611761	chromosome 16 open reading frame 26, transmembrane protein 112	C16orf26, TMEM112	NA	11157797, 17994020	Standard	NM_022773	NM_022773	NA	Approved	FLJ12681, JFP11, FLJ22302, TMEM112A	uc021tae.1	Q96S06	OTTHUMG00000047848	ENST00000262301.11:c.1001C>A	16.37:g.921238G>T	ENSP00000262301:p.Ser334Tyr	NA	Q68CJ3|Q96FJ4|Q9H6G4|Q9H9K7	37	CCDS45373.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504376	0.44558	.	.	ENSG00000103227	ENST00000262301;ENST00000399843;ENST00000540070;ENST00000545827;ENST00000543238	T;T;T	0.25414	1.8;1.8;1.8	5.48	4.51	0.55191	.	0.262403	0.38605	N	0.001621	T	0.30355	0.0762	M	0.80616	2.505	0.80722	D	1	P	0.38223	0.623	B	0.30251	0.113	T	0.28299	-1.0048	10	0.62326	D	0.03	-1.2062	14.3017	0.66357	0.0:0.0:0.8501:0.1499	.	334	Q96S06	LMF1_HUMAN	Y	334;334;117;88;97	ENSP00000262301:S334Y;ENSP00000382737:S334Y;ENSP00000437418:S97Y	ENSP00000262301:S334Y	S	-	2	0	LMF1	861239	1.000000	0.71417	0.022000	0.16811	0.003000	0.03518	4.439000	0.59968	1.298000	0.44778	0.561000	0.74099	TCT	LMF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109071.3		-	ENST00000262301.11	Missense_Mutation	SNP	16 : 921238 - 921238 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	136	8
THSD7A	221981	broad.mit.edu	37	7	11446998	11446998	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11446998G>T	ENST00000423059.4	-	20	4102	c.3851C>A	c.(3850-3852)cCt>cAt	p.P1284H	AC004538.3_ENST00000445839.1_RNA|AC004160.4_ENST00000425837.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	NA	TSP type-1 12.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACAGTTCACAGGGCATTCCAC	0.458		NA								HNSCC(18;0.044)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	75	75			NA	NA	7		NA											NA				11446998		1964	4159	6123	SO:0001583	missense				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108	221981	221981			22207	protein-coding gene	gene with protein product		612249			NA		Standard	XM_928187.2	NM_015204	NA	Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.3851C>A	7.37:g.11446998G>T	ENSP00000406482:p.Pro1284His	NA		37	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869879	0.91587	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.62788	-0.0	5.37	5.37	0.77165	.	0.048208	0.85682	D	0.000000	T	0.76421	0.3985	M	0.71581	2.175	0.80722	D	1	D	0.53619	0.961	P	0.57548	0.823	T	0.78804	-0.2060	10	0.87932	D	0	.	19.518	0.95171	0.0:0.0:1.0:0.0	.	1284	Q9UPZ6	THS7A_HUMAN	H	1284	ENSP00000406482:P1284H	ENSP00000262042:P1284H	P	-	2	0	THSD7A	11413523	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	9.680000	0.98651	2.679000	0.91253	0.585000	0.79938	CCT	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325944.4		-	ENST00000423059.4	Missense_Mutation	SNP	7 : 11446998 - 11446998 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	167	15
FGD4	121512	broad.mit.edu	37	12	32778624	32778624	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32778624C>T	ENST00000525053.1	+	14	2092	c.2008C>T	c.(2008-2010)Cga>Tga	p.R670*	FGD4_ENST00000266482.3_Nonsense_Mutation_p.R310*|FGD4_ENST00000531134.1_Nonsense_Mutation_p.R643*|FGD4_ENST00000546442.1_Nonsense_Mutation_p.R465*|FGD4_ENST00000534526.2_Nonsense_Mutation_p.R695*|FGD4_ENST00000427716.2_Nonsense_Mutation_p.R558*			Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	558	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					AAGATGGATCCGAGATAATGA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	96	97			NA	NA	12		NA											NA				32778624		2203	4300	6503	SO:0001587	stop_gained			AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132	121512	121512		Zinc fingers, FYVE domain containing, Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	19125	protein-coding gene	gene with protein product		611104	FGD1 family, member 4		NA	11527409	Standard	NM_139241	NM_139241	NA	Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000525053.1:c.2008C>T	12.37:g.32778624C>T	ENSP00000433666:p.Arg670*	NA	Q6ULS2|Q8TCP6	37		.	.	.	.	.	.	.	.	.	.	C	42	9.767721	0.99259	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000266482;ENST00000546442;ENST00000525053	.	.	.	5.39	4.47	0.54385	.	0.000000	0.40064	N	0.001184	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9663	15.1414	0.72612	0.1426:0.8574:0.0:0.0	.	.	.	.	X	695;643;558;310;465;670	.	ENSP00000266482:R310X	R	+	1	2	FGD4	32669891	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	3.416000	0.52707	1.202000	0.43218	0.555000	0.69702	CGA	FGD4-011	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000390888.1		+	ENST00000525053.1	Nonsense_Mutation	SNP	12 : 32778624 - 32778624 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	449	83
BRCA2	675	broad.mit.edu	37	13	32913417	32913417	+	Missense_Mutation	SNP	A	A	C	rs80358718		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32913417A>C	ENST00000380152.3	+	11	5158	c.4925A>C	c.(4924-4926)aAt>aCt	p.N1642T	BRCA2_ENST00000544455.1_Missense_Mutation_p.N1642T			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1642					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GTACATGAAAATGTAGAAAAA	0.323		NA	D, Mis, N, F, S		breast, ovarian, pancreatic	breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		L, E	0													34	36	35			NA	NA	13		NA											NA				32913417		2202	4298	6500	SO:0001583	missense	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618	675	675		Fanconi anemia, complementation groups	1101	protein-coding gene	gene with protein product	BRCA1/BRCA2-containing complex, subunit 2	600185	Fanconi anemia, complementation group D1	FANCD1, FACD, FANCD	NA	8091231, 7581463, 15057823	Standard	NM_000059	NM_000059	NA	Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.4925A>C	13.37:g.32913417A>C	ENSP00000369497:p.Asn1642Thr	NA	O00183|O15008|Q13879|Q5TBJ7	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	12.56	1.975053	0.34848	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00873	5.59;5.59	5.96	0.18	0.15068	.	0.582880	0.18290	N	0.145734	T	0.01124	0.0037	L	0.59436	1.845	0.09310	N	1	B	0.29909	0.261	B	0.20184	0.028	T	0.44143	-0.9347	10	0.52906	T	0.07	.	7.2658	0.26229	0.3915:0.3705:0.0:0.2381	.	1642	P51587	BRCA2_HUMAN	T	1642	ENSP00000369497:N1642T;ENSP00000439902:N1642T	ENSP00000369497:N1642T	N	+	2	0	BRCA2	31811417	0.219000	0.23619	0.013000	0.15412	0.989000	0.77384	1.041000	0.30291	0.105000	0.17753	0.533000	0.62120	AAT	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046000.2		+	ENST00000380152.3	Missense_Mutation	SNP	13 : 32913417 - 32913417 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	224	31
ACSF3	197322	broad.mit.edu	37	16	89167414	89167414	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89167414G>A	ENST00000378345.4	+	2	95				ACSF3_ENST00000317447.4_Missense_Mutation_p.V109I|ACSF3_ENST00000406948.3_Missense_Mutation_p.V109I			Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	NA					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		TGCCTCCTACGTCGTGGCCCA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	72	76			NA	NA	16		NA											NA				89167414		2198	4300	6498	SO:0001627	intron_variant			AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715	197322	197322		Acyl-CoA synthetase family	27288	protein-coding gene	gene with protein product	malonyl-CoA synthetase	614245			NA	17762044, 21846720	Standard	NM_174917	XM_005256293	NA	Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000378345.4:c.-129-1598G>A	16.37:g.89167414G>A		NA	A8K4J8|C9JQL6|Q6INA0|Q8N2F7	37		.	.	.	.	.	.	.	.	.	.	G	15.82	2.946386	0.53079	.	.	ENSG00000176715	ENST00000317447;ENST00000537290;ENST00000406948	T;T;T	0.43294	0.95;0.95;0.95	5.27	5.27	0.74061	AMP-dependent synthetase/ligase (1);	0.163204	0.56097	D	0.000040	T	0.54532	0.1864	L	0.46947	1.48	0.80722	D	1	D	0.62365	0.991	P	0.57720	0.826	T	0.51356	-0.8716	10	0.41790	T	0.15	-40.9689	18.891	0.92403	0.0:0.0:1.0:0.0	.	109	Q4G176	ACSF3_HUMAN	I	109	ENSP00000320646:V109I;ENSP00000440734:V109I;ENSP00000384627:V109I	ENSP00000320646:V109I	V	+	1	0	ACSF3	87694915	1.000000	0.71417	0.113000	0.21522	0.035000	0.12851	4.632000	0.61311	2.460000	0.83146	0.655000	0.94253	GTC	ACSF3-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000395755.1		+	ENST00000378345.4	Intron	SNP	16 : 89167414 - 89167414 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	328	97
MLLT1	4298	broad.mit.edu	37	19	6213122	6213122	+	Silent	SNP	G	G	A	rs143086360	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6213122G>A	ENST00000252674.7	-	12	1774	c.1611C>T	c.(1609-1611)ttC>ttT	p.F537F		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	537					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						AGAAGAGGTCGAAGTCGAAGG	0.637		NA	T	MLL	AL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		19	19p13.3	4298	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)		L	0										3,4403	6.2+/-15.9	0,3,2200	172	155	161		1611	-5.8	0.9	19	dbSNP_134	161	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MLLT1	NM_005934.3		0,4,6499	AA,AG,GG	NA	0.0116,0.0681,0.0308		537/560	6213122	4,13002	2203	4300	6503	SO:0001819	synonymous_variant				CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382	4298	4298			7134	protein-coding gene	gene with protein product		159556	myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1		NA		Standard	NM_005934	XM_005259561	NA	Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.1611C>T	19.37:g.6213122G>A		NA	Q14768	37	CCDS12160.1																																																																																			MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452909.1		-	ENST00000252674.7	Silent	SNP	19 : 6213122 - 6213122 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	769	123
IQCF2	389123	broad.mit.edu	37	3	51897380	51897380	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51897380C>T	ENST00000333127.3	+	3	518	c.489C>T	c.(487-489)aaC>aaT	p.N163N	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	163										endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGATCATCAACTCCTAAGGGC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	85	86			NA	NA	3		NA											NA				51897380		2203	4300	6503	SO:0001819	synonymous_variant			AK128883	CCDS2835.1	3p21.31	2008-02-05			ENSG00000184345	ENSG00000184345	389123	389123			31815	protein-coding gene	gene with protein product					NA		Standard	NM_203424	NM_203424	NA	Approved		uc003dbt.1	Q8IXL9	OTTHUMG00000156914	ENST00000333127.3:c.489C>T	3.37:g.51897380C>T		NA		37	CCDS2835.1																																																																																			IQCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346594.1		+	ENST00000333127.3	Silent	SNP	3 : 51897380 - 51897380 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	626	111
CASK	8573	broad.mit.edu	37	X	41437686	41437686	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41437686G>A	ENST00000421587.2	-	14	1415	c.1392C>T	c.(1390-1392)ggC>ggT	p.G464G	CASK_ENST00000472704.1_5'UTR|CASK_ENST00000378154.1_Silent_p.G470G|CASK_ENST00000442742.2_Silent_p.G470G|CASK_ENST00000378158.1_Silent_p.G470G|CASK_ENST00000378166.4_Silent_p.G470G|CASK_ENST00000318588.9_Silent_p.G470G|CASK_ENST00000378163.1_Silent_p.G470G|CASK_ENST00000361962.4_Silent_p.G470G	NM_001126055.2	NP_001119527.1	O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	470					cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						CTGGAGAATCGCCGTTTAAAT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(42;104 1086 3090 27189 35040)							NA				0													128	101	110			NA	NA	X		NA											NA				41437686		2203	4300	6503	SO:0001819	synonymous_variant			AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044	8573	8573			1497	protein-coding gene	gene with protein product		300172	trinucleotide repeat containing 8	TNRC8	NA	9722958	Standard	NM_003688	NM_003688	NA	Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000421587.2:c.1392C>T	X.37:g.41437686G>A		NA	A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	37	CCDS48094.1																																																																																			CASK-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056282.1		-	ENST00000421587.2	Silent	SNP	X : 41437686 - 41437686 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	272	31
GOLGB1	2804	broad.mit.edu	37	3	121400548	121400548	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121400548C>T	ENST00000393667.3	-	15	8969	c.8859G>A	c.(8857-8859)gaG>gaA	p.E2953E	GOLGB1_ENST00000340645.5_Silent_p.E2948E	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2948					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GCTGATGCAGCTCATGCTGCC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	153	157			NA	NA	3		NA											NA				121400548		2203	4300	6503	SO:0001819	synonymous_variant			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230	2804	2804			4429	protein-coding gene	gene with protein product	macrogolgin, golgi integral membrane protein 1	602500	golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1, golgin B1, golgi integral membrane protein		NA	7691276, 15004235	Standard	NM_004487	NM_001256486	NA	Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000393667.3:c.8859G>A	3.37:g.121400548C>T		NA	D3DN92|Q14398	37	CCDS58847.1																																																																																			GOLGB1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355160.1		-	ENST00000393667.3	Silent	SNP	3 : 121400548 - 121400548 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	721	138
C20orf26	0	broad.mit.edu	37	20	20340951	20340951	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20340951T>G	ENST00000245957.5	+	27	3687	c.3611T>G	c.(3610-3612)tTt>tGt	p.F1204C	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		1204										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AAAAGAGTTTTTGAGGAATCC	0.488		NA									OREG0025807	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	158	157			NA	NA	20		NA											NA				20340951		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000245957.5:c.3611T>G	20.37:g.20340951T>G	ENSP00000245957:p.Phe1204Cys	740	A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	37	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	t	10.46	1.355205	0.24512	.	.	ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957	T	0.11385	2.78	5.39	4.27	0.50696	.	0.242001	0.29480	N	0.012021	T	0.19046	0.0457	L	0.40543	1.245	0.34156	D	0.668057	D	0.71674	0.998	P	0.58873	0.847	T	0.17899	-1.0354	10	0.59425	D	0.04	.	11.0362	0.47802	0.1397:0.0:0.0:0.8603	.	1204	Q8NHU2	CT026_HUMAN	C	1144;1170;1204	ENSP00000245957:F1204C	ENSP00000245957:F1204C	F	+	2	0	C20orf26	20288951	0.064000	0.20934	0.085000	0.20634	0.005000	0.04900	0.616000	0.24344	0.961000	0.38030	0.451000	0.29950	TTT	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078228.3		+	ENST00000245957.5	Missense_Mutation	SNP	20 : 20340951 - 20340951 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	777	190
LRP10	26020	broad.mit.edu	37	14	23345402	23345402	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23345402G>A	ENST00000359591.4	+	5	1936	c.1245G>A	c.(1243-1245)acG>acA	p.T415T	LRP10_ENST00000546834.1_Silent_p.T415T	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	415	LDL-receptor class A 4.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TGTATGAGACGTGGGTGTGCG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								A		0,4406		0,0,2203	214	194	201		1245	-11.9	0.2	14		201	1,8599	819.2+/-406.8	0,1,4299	no	coding-synonymous	LRP10	NM_014045.3		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		415/714	23345402	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324	26020	26020		Low density lipoprotein receptors	14553	protein-coding gene	gene with protein product		609921			NA	11123907	Standard		XM_005267510	NA	Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.1245G>A	14.37:g.23345402G>A		NA	A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	37	CCDS9578.1	.	.	.	.	.	.	.	.	.	.	A	5.109	0.205658	0.09704	0.0	1.16E-4	ENSG00000197324	ENST00000551466	.	.	.	5.97	-11.9	0.00025	.	.	.	.	.	T	0.40171	0.1106	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49504	-0.8933	4	.	.	.	-8.3507	5.5399	0.17031	0.4097:0.2297:0.2983:0.0623	.	.	.	.	M	317	.	.	V	+	1	0	LRP10	22415242	0.000000	0.05858	0.232000	0.24009	0.871000	0.50021	-4.299000	0.00257	-2.310000	0.00650	-2.160000	0.00327	GTG	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071663.3		+	ENST00000359591.4	Silent	SNP	14 : 23345402 - 23345402 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	841	41
LRCH1	23143	broad.mit.edu	37	13	47269052	47269052	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:47269052C>T	ENST00000389797.3	+	9	1282	c.1145C>T	c.(1144-1146)cCg>cTg	p.P382L	LRCH1_ENST00000389798.3_Missense_Mutation_p.P382L|LRCH1_ENST00000311191.6_Missense_Mutation_p.P382L	NM_001164211.1	NP_001157683	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	382										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		GAATTTCAACCGGAGCCTTCC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	83	82			NA	NA	13		NA											NA				47269052		2203	4300	6503	SO:0001583	missense			AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141	23143	23143			20309	protein-coding gene	gene with protein product		610368	calponin homology (CH) domain containing 1	CHDC1	NA	10231032	Standard	NM_015116	NM_015116	NA	Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389797.3:c.1145C>T	13.37:g.47269052C>T	ENSP00000374447:p.Pro382Leu	NA	Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	37	CCDS53865.1	.	.	.	.	.	.	.	.	.	.	C	5.565	0.289009	0.10513	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	T;T;T	0.54071	0.59;0.64;0.63	5.68	3.78	0.43462	.	0.343441	0.24793	N	0.035544	T	0.32285	0.0824	L	0.36672	1.1	0.39613	D	0.969908	P;B;P;P	0.49635	0.878;0.139;0.926;0.878	B;B;B;B	0.37888	0.133;0.011;0.26;0.091	T	0.15752	-1.0426	10	0.12430	T	0.62	-3.5177	5.8134	0.18479	0.2344:0.6677:0.0:0.0979	.	382;382;382;382	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	L	382	ENSP00000308493:P382L;ENSP00000374448:P382L;ENSP00000374447:P382L	ENSP00000308493:P382L	P	+	2	0	LRCH1	46167053	0.003000	0.15002	0.908000	0.35775	0.896000	0.52359	0.603000	0.24149	1.407000	0.46875	-0.145000	0.13849	CCG	LRCH1-004	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354618.1		+	ENST00000389797.3	Missense_Mutation	SNP	13 : 47269052 - 47269052 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	460	78
FCRL5	83416	broad.mit.edu	37	1	157490923	157490923	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157490923G>A	ENST00000361835.3	-	11	2556	c.2399C>T	c.(2398-2400)tCt>tTt	p.S800F	FCRL5_ENST00000356953.4_Missense_Mutation_p.S800F|FCRL5_ENST00000461387.1_5'UTR	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	800	Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CGCTCCTCCAGAGGGGGACGA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	82	80			NA	NA	1		NA											NA				157490923		2203	4300	6503	SO:0001583	missense			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297	83416	83416		CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	18508	protein-coding gene	gene with protein product		605877			NA	11027651, 11290337	Standard	NM_031281	NM_031281	NA	Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2399C>T	1.37:g.157490923G>A	ENSP00000354691:p.Ser800Phe	NA	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	37	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.747371	0.30955	.	.	ENSG00000143297	ENST00000361835;ENST00000356953	T;T	0.15017	2.46;2.46	5.34	-0.515	0.11954	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	20.103400	0.00639	U	0.000514	T	0.09949	0.0244	L	0.53249	1.67	0.54753	D	0.999981	P;P	0.51351	0.858;0.944	B;P	0.51550	0.326;0.673	T	0.56329	-0.7997	10	0.17369	T	0.5	.	2.7429	0.05258	0.3224:0.0:0.3374:0.3402	.	800;800	A6NJE8;Q96RD9	.;FCRL5_HUMAN	F	800	ENSP00000354691:S800F;ENSP00000349434:S800F	ENSP00000349434:S800F	S	-	2	0	FCRL5	155757547	0.001000	0.12720	0.861000	0.33841	0.509000	0.34042	0.176000	0.16782	0.030000	0.15379	0.650000	0.86243	TCT	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046263.1		-	ENST00000361835.3	Missense_Mutation	SNP	1 : 157490923 - 157490923 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	681	111
TTC3	7267	broad.mit.edu	37	21	38538444	38538444	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38538444C>A	ENST00000399017.2	+	33	6675	c.3928C>A	c.(3928-3930)Caa>Aaa	p.Q1310K	TTC3_ENST00000354749.2_Missense_Mutation_p.Q1310K|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.Q1310K	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1310					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TTATTGGGCTCAATCCCATTT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(38;194 1649 35661)							NA				0													105	108	107			NA	NA	21		NA											NA				38538444		2203	4298	6501	SO:0001583	missense			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670	7267	7267		RING-type (C3HC4) zinc fingers, Tetratricopeptide (TTC) repeat domain containing	12393	protein-coding gene	gene with protein product		602259			NA	8947847	Standard		NM_003316	NA	Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.3928C>A	21.37:g.38538444C>A	ENSP00000381981:p.Gln1310Lys	NA	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	37	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495499	0.44352	.	.	ENSG00000182670	ENST00000355666;ENST00000399017;ENST00000354749	T;T;T	0.08282	3.11;3.11;3.11	5.09	4.14	0.48551	.	0.151389	0.30940	N	0.008577	T	0.08891	0.0220	L	0.51422	1.61	0.80722	D	1	P;B	0.37207	0.587;0.243	B;B	0.36464	0.225;0.033	T	0.12760	-1.0535	9	.	.	.	-10.37	10.4636	0.44594	0.0:0.7454:0.2546:0.0	.	368;1310	Q5GIT6;P53804	.;TTC3_HUMAN	K	1310	ENSP00000347889:Q1310K;ENSP00000381981:Q1310K;ENSP00000346791:Q1310K	.	Q	+	1	0	TTC3	37460314	0.157000	0.22836	0.943000	0.38184	0.590000	0.36582	1.965000	0.40471	2.533000	0.85409	0.655000	0.94253	CAA	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000194776.1		+	ENST00000399017.2	Missense_Mutation	SNP	21 : 38538444 - 38538444 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	704	74
MSANTD3-TMEFF1	100526694	broad.mit.edu	37	9	103204553	103204553	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:103204553C>T	ENST00000502978.1	+	1	1	c.1C>T	c.(1-3)Cgc>Tgc	p.R1C	MSANTD3_ENST00000374885.1_Silent_p.I111I|MSANTD3_ENST00000489377.1_3'UTR|MSANTD3_ENST00000395067.2_Silent_p.I111I	NM_001198812.1	NP_001185741.1	Q8IYR6	TEFF1_HUMAN	MSANTD3-TMEFF1 readthrough	0					multicellular organismal development	integral to membrane|plasma membrane		p.I111I(1)			NA						AGGAGAAGATCGCCAGCATGC	0.582		NA											C	1	5e-04	NA	0.0028	2184	NA	1	,	,	NA	2e-04	NA	NA	NA	5e-04	0.9547	LOWCOV,EXOME	NA	NA	0.0011	SNP								NA				1	Substitution - coding silent(1)	large_intestine(1)											42	40	41			NA	NA	9		NA											NA				103204553		2203	4300	6503	SO:0001583	missense					9q31.1	2012-03-13	2012-03-13	2012-03-13	ENSG00000251349	ENSG00000251349	100526694	100526694			38838	other	readthrough			C9orf30-TMEFF1 readthrough	C9orf30-TMEFF1	NA		Standard	NM_001198812.1	NM_001198812	NA	Approved		uc004bay.2		OTTHUMG00000161540	ENST00000502978.1:c.1C>T	9.37:g.103204553C>T	ENSP00000424768:p.Arg1Cys	NA	Q13086|Q8N3T8	37		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	19.48	3.835139	0.71373	.	.	ENSG00000251349	ENST00000502978	.	.	.	5.92	-7.28	0.01456	.	.	.	.	.	T	0.53400	0.1794	.	.	.	0.46336	D	0.998998	.	.	.	.	.	.	T	0.59526	-0.7438	4	.	.	.	-7.9668	12.0214	0.53346	0.0:0.2342:0.0891:0.6767	.	.	.	.	C	1	.	.	R	+	1	0	C9orf30-TMEFF1	102244374	0.225000	0.23685	0.031000	0.17742	0.984000	0.73092	-0.948000	0.03897	-1.466000	0.01897	-0.302000	0.09304	CGC	MSANTD3-TMEFF1-001	NOVEL	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	protein_coding	NA	protein_coding	OTTHUMT00000365240.1		+	ENST00000502978.1	Missense_Mutation	SNP	9 : 103204553 - 103204553 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	81
PCDHGA12	26025	broad.mit.edu	37	5	140810381	140810381	+	Missense_Mutation	SNP	C	C	A	rs138641753	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140810381C>A	ENST00000252085.3	+	1	197	c.55C>A	c.(55-57)Ctc>Atc	p.L19I	PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			protocadherin gamma subfamily A, 12	NA										breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGGAATCCTCCTGGGGAC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	91	87			NA	NA	5		NA											NA				140810381		2203	4300	6503	SO:0001583	missense			AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159	26025	26025		Cadherins / Protocadherins : Clustered	8699	other	protocadherin	fibroblast cadherin FIB3	603059	cadherin 21	CDH21	NA	10380929	Standard	NM_003735	NM_003735	NA	Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.55C>A	5.37:g.140810381C>A	ENSP00000252085:p.Leu19Ile	NA		37	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	c	4.038	0.004618	0.07866	.	.	ENSG00000253159	ENST00000252085	T	0.54479	0.57	5.57	-1.04	0.10068	.	.	.	.	.	T	0.49525	0.1562	M	0.69248	2.105	0.09310	N	1	P;B	0.35872	0.525;0.307	B;B	0.37387	0.248;0.138	T	0.45264	-0.9273	9	0.52906	T	0.07	.	10.0467	0.42190	0.0:0.2627:0.5489:0.1884	.	19;19	O60330-2;O60330	.;PCDGC_HUMAN	I	19	ENSP00000252085:L19I	ENSP00000252085:L19I	L	+	1	0	PCDHGA12	140790565	0.000000	0.05858	0.158000	0.22627	0.016000	0.09150	-1.337000	0.02657	-0.272000	0.09259	-0.219000	0.12488	CTC	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251806.2		+	ENST00000252085.3	Missense_Mutation	SNP	5 : 140810381 - 140810381 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	781	128
LDOC1L	84247	broad.mit.edu	37	22	44893032	44893032	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44893032C>A	ENST00000341255.3	-	2	914	c.405G>T	c.(403-405)gaG>gaT	p.E135D		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	135										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		AGGCCACACGCTCGGCCTCAC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	43	42			NA	NA	22		NA											NA				44893032		2203	4300	6503	SO:0001583	missense			CR456439	CCDS33662.1	22q13.3	2006-09-06			ENSG00000188636	ENSG00000188636	84247	84247			13343	protein-coding gene	gene with protein product					NA	15716091, 16093683	Standard	NM_032287	NM_032287	NA	Approved	dJ1033E15.2, DKFZp761O17121, Mart6, Mar6	uc003beu.1	Q6ICC9	OTTHUMG00000150465	ENST00000341255.3:c.405G>T	22.37:g.44893032C>A	ENSP00000340434:p.Glu135Asp	NA	Q6ZTR1	37	CCDS33662.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056134	0.36277	.	.	ENSG00000188636	ENST00000341255	T	0.19105	2.17	3.27	2.24	0.28232	.	0.000000	0.47093	D	0.000258	T	0.11110	0.0271	N	0.24115	0.695	0.27200	N	0.960198	P	0.35745	0.518	B	0.36418	0.224	T	0.19516	-1.0303	10	0.14252	T	0.57	-14.7816	6.5382	0.22365	0.0:0.8664:0.0:0.1336	.	135	Q6ICC9	LDOCL_HUMAN	D	135	ENSP00000340434:E135D	ENSP00000340434:E135D	E	-	3	2	LDOC1L	43271696	0.992000	0.36948	1.000000	0.80357	0.991000	0.79684	0.504000	0.22626	0.956000	0.37904	0.591000	0.81541	GAG	LDOC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318222.1		-	ENST00000341255.3	Missense_Mutation	SNP	22 : 44893032 - 44893032 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	258	48
PWWP2A	114825	broad.mit.edu	37	5	159546002	159546002	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159546002C>T	ENST00000523662.1	-	1	427	c.394G>A	c.(394-396)Gag>Aag	p.E132K	PWWP2A_ENST00000307063.7_Missense_Mutation_p.E132K|PWWP2A_ENST00000456329.3_Missense_Mutation_p.E132K	NM_001267035.1	NP_001253964.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	132	Pro-rich.									kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCGGCGGCTCCTCGCGCTCC	0.766		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													9	12	11			NA	NA	5		NA											NA				159546002		1790	3937	5727	SO:0001583	missense				CCDS47331.1, CCDS47332.1, CCDS58990.1	5q33.3	2011-03-23			ENSG00000170234	ENSG00000170234	114825	114825			29406	protein-coding gene	gene with protein product					NA		Standard		NM_052927	NA	Approved	KIAA1935	uc011ded.2	Q96N64	OTTHUMG00000163546	ENST00000523662.1:c.394G>A	5.37:g.159546002C>T	ENSP00000428143:p.Glu132Lys	NA	Q2HJJ2|Q8IYR3|Q96PV3	37	CCDS58990.1	.	.	.	.	.	.	.	.	.	.	c	14.25	2.480504	0.44044	.	.	ENSG00000170234	ENST00000456329;ENST00000523662;ENST00000307063	T;T;T	0.59083	1.27;1.27;0.29	3.19	2.2	0.27929	.	0.183149	0.33057	N	0.005322	T	0.37758	0.1015	N	0.22421	0.69	0.18873	N	0.999988	B;B;B	0.22146	0.039;0.065;0.065	B;B;B	0.19946	0.012;0.027;0.027	T	0.15464	-1.0436	10	0.21014	T	0.42	-3.0982	9.7697	0.40582	0.0:0.7876:0.2124:0.0	.	132;132;132	Q96N64;G5EA07;Q96N64-2	PWP2A_HUMAN;.;.	K	132	ENSP00000390462:E132K;ENSP00000428143:E132K;ENSP00000305151:E132K	ENSP00000305151:E132K	E	-	1	0	PWWP2A	159478580	0.003000	0.15002	0.996000	0.52242	0.832000	0.47134	0.110000	0.15437	1.782000	0.52362	0.556000	0.70494	GAG	PWWP2A-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374091.1		-	ENST00000523662.1	Missense_Mutation	SNP	5 : 159546002 - 159546002 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	153	13
PTPRG	5793	broad.mit.edu	37	3	61989075	61989075	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:61989075C>T	ENST00000474889.1	+	4	800	c.423C>T	c.(421-423)ggC>ggT	p.G141G	PTPRG_ENST00000295874.10_Silent_p.G141G	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	141	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GTCTACCTGGCAGATTCAAAG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	104	105			NA	NA	3		NA											NA				61989075		2203	4300	6503	SO:0001819	synonymous_variant			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724	5793	5793		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing	9671	protein-coding gene	gene with protein product		176886		PTPG	NA	1711217	Standard	NM_002841	NM_002841	NA	Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.423C>T	3.37:g.61989075C>T		NA	B2RU12|Q15623|Q59EE0|Q68DU5	37	CCDS2895.1																																																																																			PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351674.1		+	ENST00000474889.1	Silent	SNP	3 : 61989075 - 61989075 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	480	97
CYP2E1	1571	broad.mit.edu	37	10	135345639	135345639	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135345639G>A	ENST00000463117.2	+	6	771	c.499G>A	c.(499-501)Gac>Aac	p.D167N	CYP2E1_ENST00000480558.1_3'UTR|CYP2E1_ENST00000252945.3_Missense_Mutation_p.D167N|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	167					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	CCAGCCTTTCGACCCCACCTT	0.552		NA							Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	107	112			NA	NA	10		NA											NA				135345639		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	incl.: Familial Head and Neck Cancer	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649	1571	1571		Cytochrome P450s	2631	protein-coding gene	gene with protein product		124040	cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1	CYP2E	NA		Standard	NM_000773	NM_000773	NA	Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.499G>A	10.37:g.135345639G>A	ENSP00000440689:p.Asp167Asn	NA	Q5VZD5|Q9UK47	37	CCDS7686.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190522	0.38707	.	.	ENSG00000130649	ENST00000463117;ENST00000252945;ENST00000421586;ENST00000418356	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	4.59	4.59	0.56863	.	0.081583	0.85682	D	0.000000	T	0.70098	0.3185	L	0.49256	1.55	0.36824	D	0.886529	B	0.14012	0.009	B	0.16722	0.016	T	0.71951	-0.4437	10	0.56958	D	0.05	.	15.7018	0.77547	0.0:0.0:1.0:0.0	.	167	P05181	CP2E1_HUMAN	N	167;167;80;30	ENSP00000440689:D167N;ENSP00000252945:D167N;ENSP00000412754:D80N;ENSP00000397299:D30N	ENSP00000252945:D167N	D	+	1	0	CYP2E1	135195629	0.995000	0.38212	0.963000	0.40424	0.010000	0.07245	2.312000	0.43726	2.837000	0.97791	0.655000	0.94253	GAC	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051161.2		+	ENST00000463117.2	Missense_Mutation	SNP	10 : 135345639 - 135345639 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	676	45
TRAK2	66008	broad.mit.edu	37	2	202257678	202257678	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202257678G>T	ENST00000332624.3	-	10	1495	c.1067C>A	c.(1066-1068)cCt>cAt	p.P356H		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	356				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						ATGAGCAGTAGGGCCAGATCT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	116	115			NA	NA	2		NA											NA				202257678		2203	4300	6503	SO:0001583	missense			AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993	66008	66008			13206	protein-coding gene	gene with protein product	gamma-aminobutyric acid(A) receptor-interacting factor, milton homolog 2 (Drosophila), O-linked N-acetylglucosamine transferase interacting protein 98	607334	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3	ALS2CR3	NA	11161814, 16380713, 20230862	Standard	NM_015049	NM_015049	NA	Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.1067C>A	2.37:g.202257678G>T	ENSP00000328875:p.Pro356His	NA	Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	37	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.237315	0.79800	.	.	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.13778	2.56	4.78	4.78	0.61160	.	0.067807	0.64402	D	0.000011	T	0.30947	0.0781	M	0.73962	2.25	0.80722	D	1	D	0.65815	0.995	P	0.57371	0.819	T	0.02391	-1.1166	10	0.87932	D	0	.	12.5152	0.56028	0.0:0.0:0.8338:0.1662	.	356	O60296	TRAK2_HUMAN	H	356;262	ENSP00000328875:P356H	ENSP00000328875:P356H	P	-	2	0	TRAK2	201965923	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	6.501000	0.73691	2.631000	0.89168	0.655000	0.94253	CCT	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256284.3		-	ENST00000332624.3	Missense_Mutation	SNP	2 : 202257678 - 202257678 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	196	39
MUC1	4582	broad.mit.edu	37	1	155160512	155160512	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155160512A>T	ENST00000368395.1	-	4	987	c.916T>A	c.(916-918)Ttt>Att	p.F306I	MUC1_ENST00000368396.4_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000343256.5_Silent_p.V79V|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000457295.2_Missense_Mutation_p.F95I|MUC1_ENST00000368390.3_Missense_Mutation_p.F86I|MUC1_ENST00000337604.5_Missense_Mutation_p.F104I|MUC1_ENST00000368392.3_Missense_Mutation_p.F95I|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000368393.3_Missense_Mutation_p.F104I|MUC1_ENST00000438413.1_Missense_Mutation_p.F60I	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	1086	42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGGCCCAGAAAACCCCCTTGT	0.532		NA	T	IGH@	B-NHL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1q21	4582	mucin 1, transmembrane		L	0													101	116	111			NA	NA	1		NA											NA				155160512		2203	4300	6503	SO:0001583	missense			J05581	CCDS1098.1, CCDS30882.1, CCDS30883.1, CCDS41408.1, CCDS41409.1, CCDS55640.1, CCDS55641.1, CCDS55642.1, CCDS55640.2, CCDS72933.1, CCDS72934.1, CCDS72935.1, CCDS72936.1	1q22	2014-01-31	2006-03-14		ENSG00000185499	ENSG00000185499	4582	4582		CD molecules, Mucins	7508	protein-coding gene	gene with protein product		158340	mucin 1, transmembrane, medullary cystic kidney disease 1 (autosomal dominant)	PUM, MCKD1	NA	1697589, 23396133	Standard	NM_002456	NM_002456	NA	Approved	CD227, PEM, ADMCKD, ADMCKD1, MCKD, MCD	uc031ppv.1	P15941	OTTHUMG00000035681	ENST00000368395.1:c.916T>A	1.37:g.155160512A>T	ENSP00000357380:p.Phe306Ile	NA	P13931|P15942|P17626|Q14128|Q14876|Q16437|Q16442|Q16615|Q7Z552|Q9BXA4|Q9UE75|Q9UE76|Q9UQL1|Q9Y4J2	37	CCDS55640.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.013268	0.75161	.	.	ENSG00000185499	ENST00000368395;ENST00000368392;ENST00000438413;ENST00000457295;ENST00000368393;ENST00000425082;ENST00000368390;ENST00000337604	T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75	4.33	4.33	0.51752	.	0.000000	0.36932	N	0.002340	T	0.53610	0.1807	M	0.75264	2.295	0.09310	N	1	D;D;D;D;D;D;D;D;D;D;B;B;P;B;D;D;D;D;B;P	0.71674	0.991;0.982;0.992;0.984;0.983;0.998;0.996;0.993;0.975;0.959;0.273;0.053;0.871;0.094;0.997;0.979;0.987;0.994;0.005;0.845	P;P;P;P;D;D;D;D;P;P;B;B;P;B;D;P;P;P;B;D	0.74023	0.854;0.819;0.865;0.786;0.945;0.982;0.959;0.942;0.882;0.755;0.16;0.16;0.622;0.226;0.917;0.87;0.864;0.89;0.025;0.931	T	0.50329	-0.8841	10	0.72032	D	0.01	-12.3831	9.9079	0.41388	1.0:0.0:0.0:0.0	.	1095;86;1083;104;1074;113;392;392;306;113;72;69;74;48;95;104;104;95;60;86	P15941-2;B6ECB2;P15941-3;P15941-8;P15941-4;B6ECA3;B4DWK6;E7EUW3;B1AVQ5;A5YRU5;A6ZID6;A5YRV0;A5YRU8;A5YRV2;A5YRU7;A6ZID9;B1AVR0;Q0VAP5;B1AVQ7;Q0VAP6	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	I	306;95;60;95;104;392;86;104	ENSP00000357380:F306I;ENSP00000357377:F95I;ENSP00000389098:F60I;ENSP00000388172:F95I;ENSP00000357378:F104I;ENSP00000357375:F86I;ENSP00000338983:F104I	ENSP00000338983:F104I	F	-	1	0	MUC1	153427136	0.001000	0.12720	0.059000	0.19551	0.222000	0.24845	0.840000	0.27600	1.606000	0.50161	0.383000	0.25322	TTT	MUC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086735.1		-	ENST00000368395.1	Missense_Mutation	SNP	1 : 155160512 - 155160512 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1018	260
POLR1A	25885	broad.mit.edu	37	2	86325797	86325797	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86325797C>T	ENST00000263857.6	-	3	747	c.369G>A	c.(367-369)caG>caA	p.Q123Q	POLR1A_ENST00000409681.1_Silent_p.Q123Q			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	123					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GAACCCTCAGCTGGCAGAGTA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	149	149			NA	NA	2		NA											NA				86325797		1920	4123	6043	SO:0001819	synonymous_variant			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654	25885	25885		RNA polymerase subunits	17264	protein-coding gene	gene with protein product					NA	9236775	Standard	NM_015425	NM_015425	NA	Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.369G>A	2.37:g.86325797C>T		NA	B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	37	CCDS42706.1																																																																																			POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329830.2		-	ENST00000263857.6	Silent	SNP	2 : 86325797 - 86325797 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1192	219
TNNI3	7137	broad.mit.edu	37	19	55668952	55668952	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55668952C>T	ENST00000344887.5	-	1	148	c.6G>A	c.(4-6)gcG>gcA	p.A2A	TNNI3_ENST00000590463.1_5'UTR|CTD-2587H24.4_ENST00000587871.1_3'UTR	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	2			A -> V (in CMD2A).		cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CTCACCCATCCGCCATGCTGA	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	94	91			NA	NA	19		NA											NA				55668952		1969	4167	6136	SO:0001819	synonymous_variant			M64247	CCDS42628.1	19q13.4	2014-09-17	2005-09-12			ENSG00000129991	7137	7137			11947	protein-coding gene	gene with protein product		191044	troponin I, cardiac, cardiomyopathy, dilated 2A (autosomal recessive)	CMD2A	NA	9605869, 9241277, 10806205	Standard		NM_000363	NA	Approved	TNNC1, CMH7	uc002qjg.4	P19429		ENST00000344887.5:c.6G>A	19.37:g.55668952C>T		NA		37	CCDS42628.1																																																																																			TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452098.1		-	ENST00000344887.5	Silent	SNP	19 : 55668952 - 55668952 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1025	198
MUC5B	727897	broad.mit.edu	37	11	1272392	1272392	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1272392C>T	ENST00000529681.1	+	31	14340	c.14282C>T	c.(14281-14283)aCg>aTg	p.T4761M	MUC5B_ENST00000447027.1_Missense_Mutation_p.T4764M	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4761	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.T4716M(1)|p.T4761M(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTGTGGACCACGTGGACCGTC	0.582		NA											C	1	5e-04	NA	NA	2184	0.0017	0.9995	,	,	NA	3e-04	NA	NA	NA	7e-04	0.7109	LOWCOV	NA	NA	0.0051	SNP								NA				2	Substitution - Missense(2)	lung(2)						C	MET/THR	2,4342		0,2,2170	168	192	184		14282	-3.7	0	11		184	0,8500		0,0,4250	no	missense	MUC5B	NM_002458.2	81	0,2,6420	TT,TC,CC	NA	0.0,0.046,0.0156		4761/5763	1272392	2,12842	2172	4250	6422	SO:0001583	missense			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983	727897	727897		Mucins	7516	protein-coding gene	gene with protein product		600770	mucin 5, subtype B, tracheobronchial	MUC5	NA	9804771	Standard	XM_001126093	NM_002458	NA	Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14282C>T	11.37:g.1272392C>T	ENSP00000436812:p.Thr4761Met	NA	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	37	CCDS44515.2	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	3.663|3.663	-0.069163|-0.069163	0.07228|0.07228	4.6E-4|4.6E-4	0.0|0.0	ENSG00000117983|ENSG00000117983	ENST00000535652|ENST00000529681;ENST00000447027;ENST00000349637	.|T;T	.|0.23552	.|1.9;2.08	1.83|1.83	-3.67|-3.67	0.04476|0.04476	.|.	.|.	.|.	.|.	.|.	T|T	0.19805|0.19805	0.0476|0.0476	M|M	0.72894|0.72894	2.215|2.215	0.09310|0.09310	N|N	1|1	.|P	.|0.38250	.|0.624	.|B	.|0.28139	.|0.086	T|T	0.08351|0.08351	-1.0726|-1.0726	6|9	0.54805|0.87932	T|D	0.06|0	.|.	5.0104|5.0104	0.14310|0.14310	0.4155:0.4485:0.0:0.136|0.4155:0.4485:0.0:0.136	.|.	.|4764	.|E9PBJ0	.|.	C|M	533|4761;4764;4705	.|ENSP00000436812:T4761M;ENSP00000415793:T4764M	ENSP00000439776:R533C|ENSP00000343037:T4705M	R|T	+|+	1|2	0|0	MUC5B|MUC5B	1228968|1228968	0.011000|0.011000	0.17503|0.17503	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.000000|0.000000	0.12993|0.12993	-0.953000|-0.953000	0.03645|0.03645	0.194000|0.194000	0.17425|0.17425	CGT|ACG	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390041.2		+	ENST00000529681.1	Missense_Mutation	SNP	11 : 1272392 - 1272392 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	586	106
GPR133	283383	broad.mit.edu	37	12	131622774	131622774	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:131622774C>T	ENST00000376682.4	+	16	1842	c.1587C>T	c.(1585-1587)ctC>ctT	p.L529L	GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000535015.1_Splice_Site_p.L875L|GPR133_ENST00000543617.1_Splice_Site_p.L362L|GPR133_ENST00000261654.5_Splice_Site_p.L843L			Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	843	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ACTCGGACCTCGTGAGTGCAG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	59	64			NA	NA	12		NA											NA				131622774		2203	4300	6503	SO:0001630	splice_region_variant			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452	283383	283383		-, GPCR / Class B : Orphans	19893	protein-coding gene	gene with protein product		613639			NA		Standard	NM_198827	NM_198827	NA	Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000376682.4:c.1587+1C>T	12.37:g.131622774C>T		NA	Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	37		.	.	.	.	.	.	.	.	.	.	C	0.495	-0.873579	0.02570	.	.	ENSG00000111452	ENST00000335486	.	.	.	4.46	-8.92	0.00774	.	.	.	.	.	T	0.47021	0.1423	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55296	-0.8163	4	.	.	.	.	8.6716	0.34154	0.0:0.2184:0.1964:0.5852	.	.	.	.	L	197	.	.	S	+	2	0	GPR133	130188727	0.001000	0.12720	0.002000	0.10522	0.484000	0.33280	-1.490000	0.02304	-2.245000	0.00705	-0.258000	0.10820	TCA	GPR133-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000399364.1	Silent	+	ENST00000376682.4	Splice_Site	SNP	12 : 131622774 - 131622774 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	230	27
DYNC1H1	1778	broad.mit.edu	37	14	102472334	102472334	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102472334C>A	ENST00000360184.4	+	27	5707	c.5543C>A	c.(5542-5544)cCt>cAt	p.P1848H		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1848	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TACTTTGACCCTAAGCAAACT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	142	145			NA	NA	14		NA											NA				102472334		2203	4300	6503	SO:0001583	missense			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102	1778	1778		Cytoplasmic dyneins	2961	protein-coding gene	gene with protein product		600112	dynein, cytoplasmic, heavy polypeptide 1	DNECL, DNCL, DNCH1	NA	16260502, 8666668	Standard	NM_001376	NM_001376	NA	Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.5543C>A	14.37:g.102472334C>A	ENSP00000348965:p.Pro1848His	NA	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620173	0.66787	.	.	ENSG00000197102	ENST00000360184	T	0.30714	1.52	6.07	6.07	0.98685	.	0.050998	0.85682	D	0.000000	T	0.57417	0.2052	M	0.85197	2.74	0.80722	D	1	D	0.61080	0.989	P	0.55545	0.778	T	0.60870	-0.7177	10	0.62326	D	0.03	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	1848	Q14204	DYHC1_HUMAN	H	1848	ENSP00000348965:P1848H	ENSP00000348965:P1848H	P	+	2	0	DYNC1H1	101542087	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	5.801000	0.69115	2.884000	0.98904	0.655000	0.94253	CCT	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414574.1		+	ENST00000360184.4	Missense_Mutation	SNP	14 : 102472334 - 102472334 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	732	63
TRIM46	80128	broad.mit.edu	37	1	155154489	155154489	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155154489G>A	ENST00000368382.1	+	9	1818	c.1681G>A	c.(1681-1683)Gac>Aac	p.D561N	TRIM46_ENST00000334634.4_Missense_Mutation_p.D584N|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368383.3_Missense_Mutation_p.D584N|TRIM46_ENST00000543729.1_3'UTR|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000545012.1_Missense_Mutation_p.D458N	NM_001256599.1|NM_001256600.1|NM_001256601.1|NM_025058.4	NP_001243528.1|NP_001243529.1|NP_001243530.1|NP_079334.3	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	584	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGTCCTGGGCGACGTGGCTGT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	23	23			NA	NA	1		NA											NA				155154489		2203	4299	6502	SO:0001583	missense				CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462	80128	80128		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	19019	protein-coding gene	gene with protein product		600986	tripartite motif-containing 46		NA		Standard	NM_025058	NM_025058	NA	Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000368382.1:c.1681G>A	1.37:g.155154489G>A	ENSP00000357366:p.Asp561Asn	NA	A0AVI6|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	37	CCDS58033.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.875559	0.72180	.	.	ENSG00000163462	ENST00000430513;ENST00000545012;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T	0.61040	0.14;2.54;0.14;0.14	4.06	4.06	0.47325	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.072502	0.53938	D	0.000049	T	0.60353	0.2262	L	0.53249	1.67	0.49483	D	0.999795	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.55528	-0.8127	10	0.20519	T	0.43	.	14.1186	0.65172	0.0:0.0:1.0:0.0	.	584;584	Q5VT61;Q7Z4K8	.;TRI46_HUMAN	N	542;458;584;561;584	ENSP00000440254:D458N;ENSP00000357367:D584N;ENSP00000357366:D561N;ENSP00000334657:D584N	ENSP00000334657:D584N	D	+	1	0	TRIM46	153421113	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	8.851000	0.92205	2.285000	0.76669	0.561000	0.74099	GAC	TRIM46-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086729.2		+	ENST00000368382.1	Missense_Mutation	SNP	1 : 155154489 - 155154489 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	212	13
CCDC88B	283234	broad.mit.edu	37	11	64111581	64111581	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64111581G>T	ENST00000356786.5	+	14	1612	c.1568G>T	c.(1567-1569)aGg>aTg	p.R523M	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	523					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAGAAGGCAAGGGATGGAGGC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	60	58			NA	NA	11		NA											NA				64111581		2201	4297	6498	SO:0001583	missense			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071	283234	283234			26757	protein-coding gene	gene with protein product	brain leucine zipper protein, GRP78-interacting protein induced by ER stress	611205	coiled-coil domain containing 88	CCDC88	NA	15882442, 21289099	Standard	NM_032251	NM_032251	NA	Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.1568G>T	11.37:g.64111581G>T	ENSP00000349238:p.Arg523Met	NA	A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	37	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	g	10.41	1.341344	0.24339	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.23754	1.89	3.87	-2.05	0.07321	.	.	.	.	.	T	0.10208	0.0250	N	0.14661	0.345	0.09310	N	0.999999	B;P;B	0.40032	0.289;0.699;0.289	B;B;B	0.35073	0.071;0.195;0.071	T	0.13737	-1.0498	9	0.46703	T	0.11	.	1.0019	0.01479	0.2994:0.1544:0.3883:0.1578	.	523;172;523	B2RTU8;A6NC98-3;A6NC98	.;.;CC88B_HUMAN	M	523	ENSP00000349238:R523M	ENSP00000349238:R523M	R	+	2	0	CCDC88B	63868157	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	0.413000	0.21148	-0.528000	0.06366	0.456000	0.33151	AGG	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000104845.1		+	ENST00000356786.5	Missense_Mutation	SNP	11 : 64111581 - 64111581 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	603	88
C10orf107	219621	broad.mit.edu	37	10	63525708	63525708	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:63525708C>T	ENST00000330194.2	+	7	869	c.564C>T	c.(562-564)aaC>aaT	p.N188N		NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN	chromosome 10 open reading frame 107	188										breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					CCGAGATAAACGAAAAACTGC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	71	72			NA	NA	10		NA											NA				63525708		2203	4300	6503	SO:0001819	synonymous_variant			BC041932	CCDS7262.1	10q21.3	2012-06-01			ENSG00000183346	ENSG00000183346	219621	219621			28678	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_173554	NM_173554	NA	Approved	bA63A2.1, Em:AC022398.2, MGC44593	uc010qik.2	Q8IVU9	OTTHUMG00000018295	ENST00000330194.2:c.564C>T	10.37:g.63525708C>T		NA	Q5T1B8	37	CCDS7262.1																																																																																			C10orf107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048228.2		+	ENST00000330194.2	Silent	SNP	10 : 63525708 - 63525708 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	31
PRAMEF1	65121	broad.mit.edu	37	1	12854104	12854104	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12854104G>A	ENST00000332296.7	+	3	431	c.328G>A	c.(328-330)Gag>Aag	p.E110K		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	110								p.E110*(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGATGTTGACGAGAATTTCTG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Nonsense(2)	lung(2)											172	188	182			NA	NA	1		NA											NA				12854104		2203	4300	6503	SO:0001583	missense			AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721	65121	65121		-	28840	protein-coding gene	gene with protein product					NA		Standard	NM_023013	NM_023013	NA	Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.328G>A	1.37:g.12854104G>A	ENSP00000332134:p.Glu110Lys	NA	Q9UQP2	37	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	12.79	2.043691	0.36085	.	.	ENSG00000116721	ENST00000332296	T	0.17370	2.28	1.7	-0.472	0.12115	.	1.946400	0.02597	N	0.100687	T	0.34978	0.0916	L	0.59912	1.85	0.09310	N	1	D	0.89917	1.0	D	0.67725	0.953	T	0.20874	-1.0262	10	0.37606	T	0.19	.	7.2625	0.26212	0.0:0.4738:0.5262:0.0	.	110	O95521	PRAM1_HUMAN	K	110	ENSP00000332134:E110K	ENSP00000332134:E110K	E	+	1	0	PRAMEF1	12776691	0.001000	0.12720	0.000000	0.03702	0.017000	0.09413	0.331000	0.19733	-0.115000	0.11915	-0.401000	0.06369	GAG	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005458.1		+	ENST00000332296.7	Missense_Mutation	SNP	1 : 12854104 - 12854104 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2692	174
KCNH5	27133	broad.mit.edu	37	14	63246595	63246595	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63246595C>T	ENST00000322893.7	-	10	2138	c.1870G>A	c.(1870-1872)Gcc>Acc	p.A624T	KCNH5_ENST00000394968.1_Missense_Mutation_p.A566T|KCNH5_ENST00000420622.2_Intron	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	624					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)		CATGCATGGGCAAGGGTGGTT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	87	92			NA	NA	14		NA											NA				63246595		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.1870G>A	14.37:g.63246595C>T	ENSP00000321427:p.Ala624Thr	NA		37	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401805	0.83120	.	.	ENSG00000140015	ENST00000322893;ENST00000394968	D;D	0.98926	-5.24;-5.04	5.72	5.72	0.89469	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.98576	0.9524	L	0.41124	1.26	0.80722	D	1	P;D	0.64830	0.823;0.994	P;D	0.69479	0.535;0.964	D	0.99864	1.1087	10	0.54805	T	0.06	.	19.8759	0.96870	0.0:1.0:0.0:0.0	.	566;624	Q8NCM2-3;Q8NCM2	.;KCNH5_HUMAN	T	624;566	ENSP00000321427:A624T;ENSP00000378419:A566T	ENSP00000321427:A624T	A	-	1	0	KCNH5	62316348	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	7.814000	0.86154	2.704000	0.92352	0.585000	0.79938	GCC	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411747.1		-	ENST00000322893.7	Missense_Mutation	SNP	14 : 63246595 - 63246595 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	269	49
OR2C3	81472	broad.mit.edu	37	1	247695426	247695426	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247695426G>A	ENST00000366487.3	-	2	749	c.388C>T	c.(388-390)Cca>Tca	p.P130S	GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TAATGGAGTGGCCTGCAGATG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	67	67			NA	NA	1		NA											NA				247695426		2203	4300	6503	SO:0001583	missense			BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242	81472	81472		GPCR / Class A : Olfactory receptors	15005	protein-coding gene	gene with protein product			olfactory receptor, family 2, subfamily C, member 4	OR2C4, OR2C5P	NA		Standard	NM_198074	NM_198074	NA	Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.388C>T	1.37:g.247695426G>A	ENSP00000355443:p.Pro130Ser	NA	Q5JQS4|Q6IEZ1|Q8NGW7	37	CCDS1634.2	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751204	0.69533	.	.	ENSG00000196242	ENST00000366487	T	0.01838	4.61	3.89	2.94	0.34122	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37623	U	0.002008	T	0.14570	0.0352	H	0.97340	3.985	0.29354	N	0.865142	D	0.59357	0.985	P	0.54856	0.762	T	0.21724	-1.0237	10	0.87932	D	0	.	10.5643	0.45163	0.0:0.0:0.8055:0.1945	.	130	Q8N628	OR2C3_HUMAN	S	130	ENSP00000355443:P130S	ENSP00000355443:P130S	P	-	1	0	OR2C3	245762049	1.000000	0.71417	0.805000	0.32314	0.930000	0.56654	6.347000	0.73004	0.925000	0.37094	0.650000	0.86243	CCA	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097626.2		-	ENST00000366487.3	Missense_Mutation	SNP	1 : 247695426 - 247695426 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	214	31
IKZF2	22807	broad.mit.edu	37	2	213872294	213872294	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:213872294G>T	ENST00000434687.1	-	9	1680	c.1371C>A	c.(1369-1371)atC>atA	p.I457I	IKZF2_ENST00000457361.1_Silent_p.I457I|IKZF2_ENST00000374319.4_Silent_p.I431I|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000451136.2_Silent_p.I385I|IKZF2_ENST00000342002.2_Silent_p.I463I|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000374327.4_Silent_p.I312I|IKZF2_ENST00000421754.2_Silent_p.I383I			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		AGACCTTGTAGATGTCCTTCA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													177	174	175			NA	NA	2		NA											NA				213872294		2203	4300	6503	SO:0001819	synonymous_variant			AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419	22807	22807		Zinc fingers, C2H2-type, IKAROS zinc fingers	13177	protein-coding gene	gene with protein product		606234	zinc finger protein, subfamily 1A, 2 (Helios)	ZNFN1A2	NA	9512513, 9560339	Standard	NM_016260	NM_001079526	NA	Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.1371C>A	2.37:g.213872294G>T		NA	Q8N6S1	37	CCDS2395.1																																																																																			IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256593.3		-	ENST00000434687.1	Silent	SNP	2 : 213872294 - 213872294 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	733	231
ZNF660	285349	broad.mit.edu	37	3	44635870	44635870	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44635870G>T	ENST00000322734.2	+	3	518	c.185G>T	c.(184-186)aGt>aTt	p.S62I	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TTTAGTCAGAGTGCAAACCTC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	99	100			NA	NA	3		NA											NA				44635870		2203	4300	6503	SO:0001583	missense			AK094189	CCDS2716.1	3p21.32	2013-01-08			ENSG00000144792	ENSG00000144792	285349	285349		Zinc fingers, C2H2-type	26720	protein-coding gene	gene with protein product					NA		Standard	NM_173658	NM_173658	NA	Approved	FLJ36870	uc003cnl.1	Q6AZW8	OTTHUMG00000133097	ENST00000322734.2:c.185G>T	3.37:g.44635870G>T	ENSP00000324605:p.Ser62Ile	NA	Q7Z331|Q8N9M8	37	CCDS2716.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765432	0.49574	.	.	ENSG00000144792	ENST00000322734	T	0.07800	3.16	4.46	3.57	0.40892	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05593	0.0147	N	0.25332	0.735	0.25836	N	0.984119	B	0.24576	0.106	B	0.23150	0.044	T	0.30060	-0.9991	8	.	.	.	.	5.1292	0.14901	0.1005:0.0:0.5758:0.3236	.	62	Q6AZW8	ZN660_HUMAN	I	62	ENSP00000324605:S62I	.	S	+	2	0	ZNF660	44610874	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-0.305000	0.08188	2.469000	0.83416	0.655000	0.94253	AGT	ZNF660-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256756.4		+	ENST00000322734.2	Missense_Mutation	SNP	3 : 44635870 - 44635870 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	80
LMF2	91289	broad.mit.edu	37	22	50944481	50944481	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50944481C>T	ENST00000216080.5	-	5	850	c.682G>A	c.(682-684)Gct>Act	p.A228T	LMF2_ENST00000505981.1_5'UTR|LMF2_ENST00000380796.3_Missense_Mutation_p.A253T|LMF2_ENST00000474879.2_Missense_Mutation_p.A253T			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	253						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TAGAAAGCAGCCAAGCGCAGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	25	25			NA	NA	22		NA											NA				50944481		2190	4289	6479	SO:0001583	missense			BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258	91289	91289			25096	protein-coding gene	gene with protein product			transmembrane protein 153, transmembrane protein 112B	TMEM153, TMEM112B	NA	12477932	Standard	NM_033200	NM_033200	NA	Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000216080.5:c.682G>A	22.37:g.50944481C>T	ENSP00000216080:p.Ala228Thr	NA	A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.815|4.815	0.151616|0.151616	0.09185|0.09185	.|.	.|.	ENSG00000100258|ENSG00000100258	ENST00000380796;ENST00000474879;ENST00000216080|ENST00000487499	T;T;T|.	0.22134|.	1.97;1.97;1.97|.	4.77|4.77	0.0864|0.0864	0.14446|0.14446	.|.	1.011940|.	0.07905|.	N|.	0.973284|.	T|T	0.21841|0.21841	0.0526|0.0526	L|L	0.31526|0.31526	0.94|0.94	0.09310|0.09310	N|N	1|1	B;B|.	0.12630|.	0.006;0.004|.	B;B|.	0.18561|.	0.022;0.006|.	T|T	0.22730|0.22730	-1.0208|-1.0208	10|5	0.17369|.	T|.	0.5|.	-7.0581|-7.0581	1.5665|1.5665	0.02605|0.02605	0.3843:0.3235:0.1292:0.163|0.3843:0.3235:0.1292:0.163	.|.	253;228|.	Q9BU23;Q9BU23-2|.	LMF2_HUMAN;.|.	T|D	253;253;228|259	ENSP00000370173:A253T;ENSP00000424381:A253T;ENSP00000216080:A228T|.	ENSP00000216080:A228T|.	A|G	-|-	1|2	0|0	LMF2|LMF2	49291347|49291347	0.026000|0.026000	0.19158|0.19158	0.002000|0.002000	0.10522|0.10522	0.189000|0.189000	0.23516|0.23516	0.424000|0.424000	0.21330|0.21330	-0.065000|-0.065000	0.13021|0.13021	0.650000|0.650000	0.86243|0.86243	GCT|GGC	LMF2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000316832.2		-	ENST00000216080.5	Missense_Mutation	SNP	22 : 50944481 - 50944481 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	63	13
KCTD6	200845	broad.mit.edu	37	3	58487184	58487184	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58487184G>A	ENST00000355076.6	+	2	1522	c.539G>A	c.(538-540)gGa>gAa	p.G180E	KCTD6_ENST00000490264.1_Missense_Mutation_p.G180E|KCTD6_ENST00000404589.3_Missense_Mutation_p.G180E	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	180						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		TTTACTTTTGGACCCTGTGAT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	94	96			NA	NA	3		NA											NA				58487184		2203	4300	6503	SO:0001583	missense			AK074934	CCDS2891.1	3p21.2	2013-06-20	2013-06-20		ENSG00000168301	ENSG00000168301	200845	200845			22235	protein-coding gene	gene with protein product			potassium channel tetramerisation domain containing 6		NA	21472142	Standard	NM_153331	NM_153331	NA	Approved	MGC27385, KCASH3	uc003dkj.4	Q8NC69	OTTHUMG00000159161	ENST00000355076.6:c.539G>A	3.37:g.58487184G>A	ENSP00000347188:p.Gly180Glu	NA	B3KNI5|Q8NBS6|Q8TCA6	37	CCDS2891.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104352	0.56291	.	.	ENSG00000168301	ENST00000404589;ENST00000490264;ENST00000355076	T;T;T	0.73681	-0.77;-0.77;-0.77	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.59609	0.2206	N	0.08118	0	0.80722	D	1	B	0.18741	0.03	B	0.18263	0.021	T	0.54275	-0.8318	10	0.36615	T	0.2	.	19.5251	0.95201	0.0:0.0:1.0:0.0	.	180	Q8NC69	KCTD6_HUMAN	E	180	ENSP00000384948:G180E;ENSP00000417490:G180E;ENSP00000347188:G180E	ENSP00000347188:G180E	G	+	2	0	KCTD6	58462224	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.615000	0.88500	0.591000	0.81541	GGA	KCTD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353591.1		+	ENST00000355076.6	Missense_Mutation	SNP	3 : 58487184 - 58487184 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	429	83
CUX2	23316	broad.mit.edu	37	12	111749924	111749924	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111749924C>T	ENST00000261726.6	+	16	2075	c.1921C>T	c.(1921-1923)Cgc>Tgc	p.R641C		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	641						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCCGAGAATCCGCACGCCTGA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	67	65			NA	NA	12		NA											NA				111749924		2089	4212	6301	SO:0001583	missense			AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249	23316	23316		Homeoboxes / CUT class	19347	protein-coding gene	gene with protein product		610648	cut-like 2 (Drosophila)	CUTL2	NA		Standard	NM_015267	NM_015267	NA	Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.1921C>T	12.37:g.111749924C>T	ENSP00000261726:p.Arg641Cys	NA	A7E2Y4	37	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	c	15.97	2.990142	0.54041	.	.	ENSG00000111249	ENST00000261726	T	0.62498	0.02	4.58	4.58	0.56647	.	0.061324	0.64402	D	0.000004	T	0.77837	0.4190	M	0.79926	2.475	0.54753	D	0.999988	D	0.89917	1.0	D	0.76071	0.987	T	0.80759	-0.1239	10	0.87932	D	0	-11.4411	11.0216	0.47722	0.3279:0.6721:0.0:0.0	.	641	O14529	CUX2_HUMAN	C	641	ENSP00000261726:R641C	ENSP00000261726:R641C	R	+	1	0	CUX2	110234307	1.000000	0.71417	1.000000	0.80357	0.429000	0.31625	3.751000	0.55165	2.115000	0.64714	0.281000	0.19383	CGC	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404765.1		+	ENST00000261726.6	Missense_Mutation	SNP	12 : 111749924 - 111749924 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	187	10
MBTPS1	8720	broad.mit.edu	37	16	84104310	84104310	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84104310T>C	ENST00000343411.3	-	13	2160	c.1665A>G	c.(1663-1665)ttA>ttG	p.L555L		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	555					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ACCAAGGCCATAAGACCGAGG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	94	98			NA	NA	16		NA											NA				84104310		2200	4300	6500	SO:0001819	synonymous_variant			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943	8720	8720			15456	protein-coding gene	gene with protein product		603355	membrane-bound transcription factor protease, site 1		NA	9809072, 10944850	Standard	NM_003791	NM_003791	NA	Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.1665A>G	16.37:g.84104310T>C		NA	Q24JQ2|Q9UF67	37	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	T	9.871	1.198901	0.22121	.	.	ENSG00000140943	ENST00000347334	.	.	.	5.76	-7.95	0.01148	.	.	.	.	.	T	0.65637	0.2710	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74993	-0.3474	5	0.87932	D	0	-13.5847	11.8154	0.52207	0.0:0.5526:0.1687:0.2786	.	.	.	.	V	1	.	ENSP00000342515:M1V	M	-	1	0	MBTPS1	82661811	0.007000	0.16637	0.424000	0.26647	0.897000	0.52465	-1.082000	0.03400	-1.436000	0.01970	0.482000	0.46254	ATG	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269080.2		-	ENST00000343411.3	Silent	SNP	16 : 84104310 - 84104310 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	627	155
TOX3	27324	broad.mit.edu	37	16	52473589	52473589	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:52473589C>T	ENST00000219746.9	-	7	1563	c.1279G>A	c.(1279-1281)Gca>Aca	p.A427T	TOX3_ENST00000407228.3_Missense_Mutation_p.A422T	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	427					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GTGGAGGGTGCTGAGCCAACC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	120	121			NA	NA	16		NA											NA				52473589		2185	4294	6479	SO:0001583	missense			U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460	27324	27324		Trinucleotide (CAG) repeat containing	11972	protein-coding gene	gene with protein product		611416	trinucleotide repeat containing 9	TNRC9	NA	9225980	Standard	XM_049037	NM_001080430	NA	Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.1279G>A	16.37:g.52473589C>T	ENSP00000219746:p.Ala427Thr	NA		37	CCDS54009.1	.	.	.	.	.	.	.	.	.	.	C	2.332	-0.353204	0.05173	.	.	ENSG00000103460	ENST00000219746;ENST00000407228	T;T	0.10099	2.94;2.91	5.85	2.76	0.32466	.	0.618951	0.16793	N	0.199299	T	0.04634	0.0126	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.42103	-0.9471	10	0.12766	T	0.61	.	2.7183	0.05194	0.1109:0.4213:0.2926:0.1752	.	422;427	B4DRD0;O15405	.;TOX3_HUMAN	T	427;422	ENSP00000219746:A427T;ENSP00000385705:A422T	ENSP00000219746:A427T	A	-	1	0	TOX3	51031090	0.332000	0.24722	0.009000	0.14445	0.739000	0.42172	1.266000	0.33039	0.813000	0.34350	0.655000	0.94253	GCA	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000422534.1		-	ENST00000219746.9	Missense_Mutation	SNP	16 : 52473589 - 52473589 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	69
CELSR2	1952	broad.mit.edu	37	1	109794810	109794810	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109794810C>T	ENST00000271332.3	+	1	2170	c.2109C>T	c.(2107-2109)acC>acT	p.T703T		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	703	Cadherin 5.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGAATGTCACCGACGCCAACA	0.577		NA											N	0	0	NA	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0	0.05	EXOME	NA	NA	8e-04	SNP	NSCLC(158;1285 2011 34800 34852 42084)							NA				0													84	77	79			NA	NA	1		NA											NA				109794810		2203	4300	6503	SO:0001819	synonymous_variant			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126	1952	1952		Cadherins / Major cadherins, -, GPCR / Class B : Orphans	3231	protein-coding gene	gene with protein product		604265	cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog	EGFL2	NA	9693030, 10907856	Standard	NM_001408	NM_001408	NA	Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.2109C>T	1.37:g.109794810C>T		NA	Q5T2Y7|Q92566	37	CCDS796.1																																																																																			CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033200.1		+	ENST00000271332.3	Silent	SNP	1 : 109794810 - 109794810 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	340	38
MNDA	4332	broad.mit.edu	37	1	158813851	158813851	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158813851T>G	ENST00000368141.4	+	4	770	c.509T>G	c.(508-510)gTg>gGg	p.V170G		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	170					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TCTGCAGCTGTGGATCATCCC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													258	212	228			NA	NA	1		NA											NA				158813851		2203	4300	6503	SO:0001583	missense			BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563	4332	4332			7183	protein-coding gene	gene with protein product		159553			NA	1644857, 7512843	Standard	NM_002432	NM_002432	NA	Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.509T>G	1.37:g.158813851T>G	ENSP00000357123:p.Val170Gly	NA		37	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	T	0.029	-1.344458	0.01277	.	.	ENSG00000163563	ENST00000368141	T	0.05081	3.5	2.94	-5.88	0.02290	.	.	.	.	.	T	0.00784	0.0026	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35025	-0.9805	9	0.23891	T	0.37	-0.2149	6.7544	0.23505	0.2972:0.1296:0.0:0.5732	.	170	P41218	MNDA_HUMAN	G	170	ENSP00000357123:V170G	ENSP00000357123:V170G	V	+	2	0	MNDA	157080475	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.082000	0.00045	-4.526000	0.00044	-2.020000	0.00432	GTG	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059069.1		+	ENST00000368141.4	Missense_Mutation	SNP	1 : 158813851 - 158813851 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1172	241
PRICKLE2	166336	broad.mit.edu	37	3	64085074	64085074	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:64085074G>A	ENST00000295902.6	-	8	2773	c.2188C>T	c.(2188-2190)Cgg>Tgg	p.R730W	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.R786W|PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	730	Arg-rich.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TGGAAGCTCCGCTGGCGCATA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	49	47			NA	NA	3		NA											NA				64085074		2203	4300	6503	SO:0001583	missense			AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637	166336	166336			20340	protein-coding gene	gene with protein product		608501	prickle-like 2 (Drosophila)		NA	12525887	Standard	NM_198859	NM_198859	NA	Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2188C>T	3.37:g.64085074G>A	ENSP00000295902:p.Arg730Trp	NA	Q0VF44	37	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.773414	0.69992	.	.	ENSG00000163637	ENST00000295902	D	0.86627	-2.15	5.33	4.33	0.51752	.	0.000000	0.64402	D	0.000001	D	0.86142	0.5862	L	0.59436	1.845	0.58432	D	0.999996	D	0.71674	0.998	P	0.47528	0.549	D	0.87301	0.2305	10	0.87932	D	0	-39.0594	11.0923	0.48123	0.0:0.0:0.6028:0.3972	.	730	Q7Z3G6	PRIC2_HUMAN	W	730	ENSP00000295902:R730W	ENSP00000295902:R730W	R	-	1	2	PRICKLE2	64060114	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.507000	0.53371	2.651000	0.90000	0.591000	0.81541	CGG	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352219.1		-	ENST00000295902.6	Missense_Mutation	SNP	3 : 64085074 - 64085074 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	456	87
LY75-CD302	100526664	broad.mit.edu	37	2	160636639	160636639	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160636639T>C	ENST00000504764.1	-	37	5296	c.5269A>G	c.(5269-5271)Aca>Gca	p.T1757A	LY75_ENST00000554112.1_Missense_Mutation_p.T1757A|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.T1701A|CD302_ENST00000429078.2_Intron|CD302_ENST00000259053.4_Missense_Mutation_p.T116A|LY75_ENST00000553424.1_Missense_Mutation_p.T1701A|CD302_ENST00000480212.1_5'UTR	NM_001198759.1	NP_001185688.1	O60449	LY75_HUMAN	LY75-CD302 readthrough	1624					endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				NA						TCTTGGTCTGTCCACTTATCA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	118	122			NA	NA	2		NA											NA				160636639		2202	4299	6501	SO:0001583	missense				CCDS56140.1, CCDS56141.1	2q24.2	2011-04-19			ENSG00000248672	ENSG00000248672	100526664	100526664			38828	other	readthrough					NA		Standard		NM_001198759	NA	Approved		uc002ubb.4		OTTHUMG00000161661	ENST00000504764.1:c.5269A>G	2.37:g.160636639T>C	ENSP00000423463:p.Thr1757Ala	NA	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	37	CCDS56141.1	.	.	.	.	.	.	.	.	.	.	T	11.29	1.595105	0.28445	.	.	ENSG00000241399;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000259053;ENST00000554112;ENST00000553424;ENST00000504764;ENST00000505052	T;T;T;T;T	0.06294	3.32;3.32;3.32;3.32;3.32	5.36	1.87	0.25490	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.430316	0.23114	N	0.051774	T	0.02610	0.0079	N	0.12182	0.205	0.22171	N	0.999315	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.08055	0.001;0.001;0.003	T	0.46555	-0.9183	10	0.08837	T	0.75	-12.4594	3.5096	0.07703	0.1993:0.1593:0.0:0.6414	.	1701;1757;116	O60449-3;O60449-2;Q8IX05	.;.;CD302_HUMAN	A	116;1757;1701;1757;1701	ENSP00000259053:T116A;ENSP00000451511:T1757A;ENSP00000451446:T1701A;ENSP00000423463:T1757A;ENSP00000421035:T1701A	ENSP00000259053:T116A	T	-	1	0	LY75;CD302;LY75-CD302	160344885	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	0.696000	0.25541	0.090000	0.17273	0.377000	0.23210	ACA	LY75-CD302-001	PUTATIVE	basic|appris_principal|readthrough_transcript|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365654.1		-	ENST00000504764.1	Missense_Mutation	SNP	2 : 160636639 - 160636639 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	53
IRX6	79190	broad.mit.edu	37	16	55361590	55361590	+	Missense_Mutation	SNP	G	G	A	rs139251893	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55361590G>A	ENST00000290552.7	+	4	1838	c.506G>A	c.(505-507)cGc>cAc	p.R169H	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	169						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						AACGAGCACCGCAAAAACCCC	0.612		NA											G	1	5e-04	NA	NA	2184	NA	0.9998	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.8407	LOWCOV,EXOME	NA	NA	0.0058	SNP								NA				0													122	93	103			NA	NA	16		NA											NA				55361590		2198	4300	6498	SO:0001583	missense			AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387	79190	79190		Homeoboxes / TALE class	14675	protein-coding gene	gene with protein product		606196	iroquois homeobox protein 7, iroquois homeobox protein 6	IRX7	NA		Standard	NM_024335	NM_024335	NA	Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.506G>A	16.37:g.55361590G>A	ENSP00000290552:p.Arg169His	NA	B2RN06|Q7Z2K0	37	CCDS32449.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	37	6.278479	0.97435	.	.	ENSG00000159387	ENST00000290552	D	0.91577	-2.87	6.08	6.08	0.98989	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);	0.054741	0.85682	D	0.000000	D	0.92967	0.7762	L	0.31420	0.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.978	D	0.93304	0.6679	10	0.87932	D	0	-17.4136	20.2585	0.98435	0.0:0.0:1.0:0.0	.	169;68	P78412;Q9BZI2	IRX6_HUMAN;.	H	169	ENSP00000290552:R169H	ENSP00000290552:R169H	R	+	2	0	IRX6	53919091	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.753000	0.98904	2.894000	0.99253	0.655000	0.94253	CGC	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417445.4		+	ENST00000290552.7	Missense_Mutation	SNP	16 : 55361590 - 55361590 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	351	69
CAMK1G	57172	broad.mit.edu	37	1	209783265	209783265	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209783265G>T	ENST00000009105.1	+	9	1063	c.818G>T	c.(817-819)aGt>aTt	p.S273I	CAMK1G_ENST00000494990.1_3'UTR|CAMK1G_ENST00000361322.2_Missense_Mutation_p.S273I			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	273	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		AAGGCCTTGAGTCATCCCTGG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(163;530 1939 9680 28669 48710)							NA				0													161	135	144			NA	NA	1		NA											NA				209783265		2203	4300	6503	SO:0001583	missense				CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118	57172	57172			14585	protein-coding gene	gene with protein product		614994			NA	12637513	Standard	NM_020439	NM_020439	NA	Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.818G>T	1.37:g.209783265G>T	ENSP00000009105:p.Ser273Ile	NA	Q86UH5|Q9Y3J7	37	CCDS1486.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620103	0.46736	.	.	ENSG00000008118	ENST00000009105;ENST00000361322	T;T	0.66460	-0.21;-0.21	4.83	4.83	0.62350	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.195621	0.36101	N	0.002785	T	0.64011	0.2560	M	0.67625	2.065	0.26610	N	0.972854	B;B	0.12630	0.006;0.002	B;B	0.11329	0.006;0.006	T	0.60850	-0.7181	10	0.62326	D	0.03	.	11.7699	0.51951	0.0818:0.0:0.9182:0.0	.	273;273	Q96NX5-2;Q96NX5	.;KCC1G_HUMAN	I	273	ENSP00000009105:S273I;ENSP00000354861:S273I	ENSP00000009105:S273I	S	+	2	0	CAMK1G	207849888	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.297000	0.43593	2.383000	0.81215	0.313000	0.20887	AGT	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088526.1		+	ENST00000009105.1	Missense_Mutation	SNP	1 : 209783265 - 209783265 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	327	58
TGM1	7051	broad.mit.edu	37	14	24731070	24731070	+	Missense_Mutation	SNP	G	G	C	rs144651432		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24731070G>C	ENST00000206765.6	-	3	462	c.339C>G	c.(337-339)aaC>aaG	p.N113K	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	113					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	AGTCCACACCGTTCACTACTA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	92	95			NA	NA	14		NA											NA				24731070		2203	4300	6503	SO:0001583	missense			D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	7051	7051	2.3.2.13	Transglutaminases	11777	protein-coding gene	gene with protein product	K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase	190195	transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)	ICR2	NA	11390390	Standard	NM_000359	NM_000359	NA	Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.339C>G	14.37:g.24731070G>C	ENSP00000206765:p.Asn113Lys	NA	Q197M4	37	CCDS9622.1	.	.	.	.	.	.	.	.	.	.	G	6.576	0.474567	0.12521	.	.	ENSG00000092295	ENST00000206765	D	0.83673	-1.75	5.29	-10.6	0.00265	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.720818	0.13927	N	0.353165	T	0.51126	0.1656	N	0.04880	-0.145	0.26576	N	0.973466	B	0.02656	0.0	B	0.08055	0.003	T	0.49698	-0.8912	10	0.06891	T	0.86	-1.3594	7.4068	0.26995	0.6273:0.1535:0.1418:0.0774	.	113	P22735	TGM1_HUMAN	K	113	ENSP00000206765:N113K	ENSP00000206765:N113K	N	-	3	2	TGM1	23800910	0.000000	0.05858	0.023000	0.16930	0.131000	0.20780	-3.860000	0.00348	-3.021000	0.00269	-1.036000	0.02392	AAC	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000073160.6		-	ENST00000206765.6	Missense_Mutation	SNP	14 : 24731070 - 24731070 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	517	39
FREM2	341640	broad.mit.edu	37	13	39448647	39448647	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39448647C>T	ENST00000280481.7	+	18	8421	c.8205C>T	c.(8203-8205)atC>atT	p.I2735I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2735					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCATGCGCATCGGTGATGAGG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								T		1,4405	2.1+/-5.4	0,1,2202	180	160	167		8205	-2.5	0	13		167	0,8600		0,0,4300	no	coding-synonymous	FREM2	NM_207361.4		0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077		2735/3170	39448647	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893	341640	341640			25396	protein-coding gene	gene with protein product		608945			NA	15345741	Standard	NM_207361	NM_207361	NA	Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8205C>T	13.37:g.39448647C>T		NA	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	37	CCDS31960.1																																																																																			FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044599.2		+	ENST00000280481.7	Silent	SNP	13 : 39448647 - 39448647 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	576	78
EP400	57634	broad.mit.edu	37	12	132516653	132516653	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132516653G>A	ENST00000333577.4	+	31	6127	c.6018G>A	c.(6016-6018)tgG>tgA	p.W2006*	EP400_ENST00000389561.2_Nonsense_Mutation_p.W1970*|EP400_ENST00000389562.2_Nonsense_Mutation_p.W1969*|EP400_ENST00000330386.6_Nonsense_Mutation_p.W1889*|EP400_ENST00000332482.4_Nonsense_Mutation_p.W1933*			Q96L91	EP400_HUMAN	E1A binding protein p400	2006	Helicase C-terminal.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CTCAGGAGTGGTGCGATAGGA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	147	148			NA	NA	12		NA											NA				132516653		2203	4300	6503	SO:0001587	stop_gained			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495	57634	57634			11958	protein-coding gene	gene with protein product		606265	trinucleotide repeat containing 12	TNRC12	NA	9225980, 11509179	Standard	NM_015409	NM_015409	NA	Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.6018G>A	12.37:g.132516653G>A	ENSP00000333602:p.Trp2006*	NA	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	37		.	.	.	.	.	.	.	.	.	.	G	46	12.503708	0.99673	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	20.2723	0.98479	0.0:0.0:1.0:0.0	.	.	.	.	X	2006;1970;1969;1933;1889;1970	.	ENSP00000330620:W1889X	W	+	3	0	EP400	131082606	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	5.445000	0.66594	2.793000	0.96121	0.563000	0.77884	TGG	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding			+	ENST00000333577.4	Nonsense_Mutation	SNP	12 : 132516653 - 132516653 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	628	20
PTPN4	5775	broad.mit.edu	37	2	120692377	120692377	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120692377C>T	ENST00000263708.2	+	15	1969	c.1198C>T	c.(1198-1200)Cga>Tga	p.R400*	PTPN4_ENST00000544261.1_Splice_Site_p.R33*	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	400						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TTTATTTAGTCGAAATTCTAC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	78	80			NA	NA	2		NA											NA				120692377		2203	4300	6503	SO:0001630	splice_region_variant				CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179	5775	5775		Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor	9656	protein-coding gene	gene with protein product		176878			NA	1648233	Standard		NM_002830	NA	Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.1197-1C>T	2.37:g.120692377C>T		NA	B2RBV8|Q9UDA7	37	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	C	32	5.167818	0.94768	.	.	ENSG00000088179	ENST00000263708;ENST00000544261;ENST00000431283	.	.	.	5.77	5.77	0.91146	.	0.187463	0.45126	D	0.000395	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.3472	0.98799	0.0:1.0:0.0:0.0	.	.	.	.	X	400;33;26	.	ENSP00000263708:R400X	R	+	1	2	PTPN4	120408847	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.444000	0.66587	2.890000	0.99128	0.650000	0.86243	CGA	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254233.2	Nonsense_Mutation	+	ENST00000263708.2	Splice_Site	SNP	2 : 120692377 - 120692377 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	223	18
ANKAR	150709	broad.mit.edu	37	2	190593005	190593005	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190593005G>A	ENST00000520309.1	+	14	2978	c.2890G>A	c.(2890-2892)Gat>Aat	p.D964N	ANKAR_ENST00000438402.2_Missense_Mutation_p.D964N|ANKAR_ENST00000281412.6_Missense_Mutation_p.D739N|ANKAR_ENST00000313581.4_Missense_Mutation_p.D964N|ANKAR_ENST00000431575.2_Missense_Mutation_p.D893N	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	964						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			ATTTCAAATAGATGTTAAGGA	0.284		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	42	42			NA	NA	2		NA											NA				190593005		2203	4300	6503	SO:0001583	missense			AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687	150709	150709		Ankyrin repeat domain containing, Armadillo repeat containing	26350	protein-coding gene	gene with protein product		609803			NA	15110750	Standard	NM_144708	NM_144708	NA	Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.2890G>A	2.37:g.190593005G>A	ENSP00000427882:p.Asp964Asn	NA	Q3ZCS6|Q4G0M2|Q6ZU02	37	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	G	12.01	1.810057	0.32053	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412;ENST00000374838	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	4.87	3.95	0.45737	.	0.323646	0.23347	N	0.049164	T	0.24967	0.0606	L	0.44542	1.39	0.33538	D	0.594462	B	0.13145	0.007	B	0.16289	0.015	T	0.28332	-1.0047	10	0.66056	D	0.02	-26.6452	8.5771	0.33605	0.0923:0.1685:0.7392:0.0	.	40	E9PHS9	.	N	964;964;964;893;739;40	ENSP00000427882:D964N;ENSP00000313513:D964N;ENSP00000397243:D964N;ENSP00000393043:D893N;ENSP00000281412:D739N	ENSP00000281412:D739N	D	+	1	0	ANKAR	190301250	0.460000	0.25776	1.000000	0.80357	0.763000	0.43281	0.868000	0.27982	2.510000	0.84645	0.467000	0.42956	GAT	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335045.3		+	ENST00000520309.1	Missense_Mutation	SNP	2 : 190593005 - 190593005 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	250	63
PSG11	5680	broad.mit.edu	37	19	43519460	43519460	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43519460C>T	ENST00000401740.1	-	4	875	c.772G>A	c.(772-774)Gac>Aac	p.D258N	PSG11_ENST00000306322.7_Missense_Mutation_p.D136N|PSG11_ENST00000320078.7_Missense_Mutation_p.D258N|PSG11_ENST00000403486.1_Missense_Mutation_p.D136N			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	258	Ig-like C2-type 2.				female pregnancy	extracellular region		p.D258Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CAGGACAAGTCGAGGTTCTCT	0.448		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)											133	143	139			NA	NA	19		NA											NA				43519460		2200	4298	6498	SO:0001583	missense			U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130	5680	5680		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	9516	protein-coding gene	gene with protein product	pregnancy specific beta-1-glycoprotein 13	176401		PSG13, PSG14	NA	7794280	Standard	NM_002785	NM_001113410	NA	Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.772G>A	19.37:g.43519460C>T	ENSP00000384995:p.Asp258Asn	NA	Q13179|Q15242|Q8WW91|Q9UNE4	37	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	c	0	-2.632536	0.00115	.	.	ENSG00000243130	ENST00000320078;ENST00000403486;ENST00000306322;ENST00000401740	T;T;T;T	0.10763	2.84;2.84;2.84;2.84	1.13	-2.25	0.06888	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03136	0.0092	N	0.04335	-0.225	0.09310	N	1	B;B	0.23249	0.041;0.082	B;B	0.26202	0.006;0.067	T	0.36432	-0.9748	9	0.02654	T	1	.	2.2582	0.04060	0.0:0.247:0.3096:0.4434	.	136;258	Q9UQ72-2;Q9UQ72	.;PSG11_HUMAN	N	258;136;136;258	ENSP00000319140:D258N;ENSP00000385427:D136N;ENSP00000304913:D136N;ENSP00000384995:D258N	ENSP00000304913:D136N	D	-	1	0	PSG11	48211300	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	-0.587000	0.05780	-1.694000	0.01425	-1.271000	0.01417	GAC	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323079.1		-	ENST00000401740.1	Missense_Mutation	SNP	19 : 43519460 - 43519460 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	949	203
CNTLN	54875	broad.mit.edu	37	9	17466758	17466758	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:17466758G>T	ENST00000380647.3	+	23	3808	c.3724G>T	c.(3724-3726)Gca>Tca	p.A1242S	CNTLN_ENST00000262360.5_Missense_Mutation_p.A1242S|CNTLN_ENST00000425824.1_Missense_Mutation_p.A1242S			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1242						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		ATCTGCAATGGCAGAAATTGA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	74	76			NA	NA	9		NA											NA				17466758		1865	4100	5965	SO:0001583	missense			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459	54875	54875			23432	protein-coding gene	gene with protein product		611870	chromosome 9 open reading frame 101, chromosome 9 open reading frame 39	C9orf101, C9orf39	NA	18086554	Standard	NM_017738	XM_005251492	NA	Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.3724G>T	9.37:g.17466758G>T	ENSP00000370021:p.Ala1242Ser	NA	A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	37	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077479	0.36662	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.18960	2.18;2.18;2.43	5.32	3.14	0.36123	.	.	.	.	.	T	0.19644	0.0472	L	0.48642	1.525	0.25935	N	0.982942	P;B;B	0.47191	0.891;0.211;0.211	P;B;B	0.47299	0.543;0.13;0.13	T	0.05194	-1.0900	9	0.11485	T	0.65	.	6.0083	0.19559	0.2483:0.0:0.6027:0.149	.	1242;1242;1242	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	S	1242	ENSP00000370021:A1242S;ENSP00000392798:A1242S;ENSP00000262360:A1242S	ENSP00000262360:A1242S	A	+	1	0	CNTLN	17456758	0.997000	0.39634	1.000000	0.80357	0.911000	0.54048	0.348000	0.20031	1.245000	0.43885	-0.145000	0.13849	GCA	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051793.3		+	ENST00000380647.3	Missense_Mutation	SNP	9 : 17466758 - 17466758 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	220	28
ITGAV	3685	broad.mit.edu	37	2	187503186	187503186	+	Silent	SNP	C	C	T	rs140473956		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:187503186C>T	ENST00000261023.3	+	10	1171	c.897C>T	c.(895-897)ggC>ggT	p.G299G	ITGAV_ENST00000374907.3_Silent_p.G263G|ITGAV_ENST00000433736.2_Silent_p.G253G	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	299					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		ATTTTACTGGCGAGCAGGTAT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(58;108 1995 6081)							NA				0								C	,,	2,4402	4.2+/-10.8	0,2,2200	84	86	85		759,789,897	0.8	1	2	dbSNP_134	85	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ITGAV	NM_001144999.1,NM_001145000.1,NM_002210.3	,,	0,2,6500	TT,TC,CC	NA	0.0,0.0454,0.0154	,,	253/1003,263/1013,299/1049	187503186	2,13002	2202	4300	6502	SO:0001819	synonymous_variant				CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448	3685	3685		CD molecules, Integrins	6150	protein-coding gene	gene with protein product		193210	antigen identified by monoclonal antibody L230, vitronectin receptor, integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)	VNRA, MSK8, VTNR	NA	2454952	Standard	NM_002210	NM_001144999	NA	Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.897C>T	2.37:g.187503186C>T		NA	A0AV67|B0LPF4|D3DPG8|Q53SK4|Q59EB7|Q6LD15	37	CCDS2292.1																																																																																			ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255882.2		+	ENST00000261023.3	Silent	SNP	2 : 187503186 - 187503186 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	398	67
ZMYND8	23613	broad.mit.edu	37	20	45856021	45856021	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45856021G>A	ENST00000458360.2	-	17	2534	c.2485C>T	c.(2485-2487)Cgc>Tgc	p.R829C	ZMYND8_ENST00000360911.3_Missense_Mutation_p.R910C|ZMYND8_ENST00000262975.4_Missense_Mutation_p.R915C|ZMYND8_ENST00000536340.1_Missense_Mutation_p.R988C|ZMYND8_ENST00000471951.2_Missense_Mutation_p.R981C|ZMYND8_ENST00000355972.4_Missense_Mutation_p.R961C|ZMYND8_ENST00000372023.3_Missense_Mutation_p.R883C|ZMYND8_ENST00000352431.2_Missense_Mutation_p.R935C|ZMYND8_ENST00000446994.2_Missense_Mutation_p.R852C|ZMYND8_ENST00000396281.4_Missense_Mutation_p.R961C|ZMYND8_ENST00000311275.7_Missense_Mutation_p.R961C|ZMYND8_ENST00000540497.1_Missense_Mutation_p.R909C|ZMYND8_ENST00000461685.1_Missense_Mutation_p.R935C	NM_001281771.1	NP_001268700.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	961							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CTCAGCCTGCGAATCTGGAAG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	115	121			NA	NA	20		NA											NA				45856021		2203	4300	6503	SO:0001583	missense			U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040	23613	23613		Zinc fingers, MYND-type, Zinc fingers, PHD-type	9397	protein-coding gene	gene with protein product		615713	protein kinase C binding protein 1	PRKCBP1	NA		Standard	NM_183047	NM_001281769	NA	Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000458360.2:c.2485C>T	20.37:g.45856021G>A	ENSP00000392964:p.Arg829Cys	NA	B7Z680|E1P5U5|Q13517|Q2HXV2|Q2HXV8|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.80|15.80	2.940096|2.940096	0.52972|0.52972	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497|ENST00000467200	T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.75154|.	0.49;0.49;0.49;-0.91;-0.91;0.49;0.49;0.49;0.49;0.49;0.49;0.36;0.49|.	5.53|5.53	3.6|3.6	0.41247|0.41247	.|.	0.120930|.	0.56097|.	N|.	0.000026|.	T|T	0.71074|0.71074	0.3297|0.3297	M|M	0.74258|0.74258	2.255|2.255	0.47123|0.47123	D|D	0.999324|0.999324	B;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.022;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;0.999;1.0;1.0|.	B;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.91635|.	0.003;0.999;0.999;0.997;0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.991;0.994;0.997;0.999|.	T|T	0.69859|0.69859	-0.5031|-0.5031	10|5	0.66056|.	D|.	0.02|.	-6.074|-6.074	11.9774|11.9774	0.53100|0.53100	0.1399:0.0:0.8601:0.0|0.1399:0.0:0.8601:0.0	.|.	829;988;883;890;981;915;910;935;935;961;852;910;909;854;863;961|.	B7ZM62;F5H0X3;Q2HXV3;Q5TH11;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8|.	.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.|.	C|L	910;961;829;916;982;935;961;988;961;852;935;883;909|842	ENSP00000354166:R910C;ENSP00000312237:R961C;ENSP00000392964:R829C;ENSP00000262975:R916C;ENSP00000420095:R982C;ENSP00000335537:R935C;ENSP00000379577:R961C;ENSP00000439800:R988C;ENSP00000348246:R961C;ENSP00000396725:R852C;ENSP00000418210:R935C;ENSP00000361093:R883C;ENSP00000443086:R909C|.	ENSP00000262975:R916C|.	R|S	-|-	1|2	0|0	ZMYND8|ZMYND8	45289428|45289428	1.000000|1.000000	0.71417|0.71417	0.658000|0.658000	0.29665|0.29665	0.698000|0.698000	0.40448|0.40448	3.652000|3.652000	0.54439|0.54439	0.714000|0.714000	0.32081|0.32081	-0.237000|-0.237000	0.12165|0.12165	CGC|TCG	ZMYND8-011	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000354388.1		-	ENST00000458360.2	Missense_Mutation	SNP	20 : 45856021 - 45856021 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	435	65
TBC1D9	23158	broad.mit.edu	37	4	141543376	141543376	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141543376G>A	ENST00000442267.2	-	21	3848	c.3774C>T	c.(3772-3774)gaC>gaT	p.D1258D		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1258						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AGATTTCATAGTCACTGGCCG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	67	67			NA	NA	4		NA											NA				141543376		1881	4119	6000	SO:0001819	synonymous_variant			AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436	23158	23158		EF-hand domain containing	21710	protein-coding gene	gene with protein product			TBC1 domain family, member 9		NA	12970790	Standard	NM_015130	NM_015130	NA	Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.3774C>T	4.37:g.141543376G>A		NA	A6H8U8|D3DNZ1|O94958	37	CCDS47136.1																																																																																			TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364806.1		-	ENST00000442267.2	Silent	SNP	4 : 141543376 - 141543376 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	534	82
CRTC1	23373	broad.mit.edu	37	19	18888081	18888081	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18888081C>T	ENST00000338797.6	+	15	1867	c.1842C>T	c.(1840-1842)gaC>gaT	p.D614D	CRTC1_ENST00000594658.1_Silent_p.D557D|CRTC1_ENST00000601916.1_Silent_p.D356D|CRTC1_ENST00000321949.8_Silent_p.D598D	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	598					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						TTCCCCTGGACGAACTCAAGA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	189	185			NA	NA	19		NA											NA				18888081		2203	4300	6503	SO:0001819	synonymous_variant			AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24			23373	23373			16062	protein-coding gene	gene with protein product	transducer of regulated cAMP response element-binding protein	607536	mucoepidermoid carcinoma translocated 1	MECT1	NA	12539049, 14536081, 14506290	Standard	NM_025021	NM_015321	NA	Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000338797.6:c.1842C>T	19.37:g.18888081C>T		NA	A6NMG5|O75114|Q6Y3A3|Q7LDZ2|Q8IUL3|Q8IZ34|Q8IZL1|Q8N6W3|Q96AI8|Q9H801	37	CCDS42525.1																																																																																			CRTC1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465152.1		+	ENST00000338797.6	Silent	SNP	19 : 18888081 - 18888081 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1541	348
COG7	91949	broad.mit.edu	37	16	23403772	23403772	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23403772G>A	ENST00000307149.5	-	16	2260	c.2075C>T	c.(2074-2076)aCc>aTc	p.T692I	COG7_ENST00000569635.1_Intron	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	692					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		ATCACAGTAGGTCTGCATTGT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	111	117			NA	NA	16		NA											NA				23403772		2197	4300	6497	SO:0001583	missense			AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434	91949	91949		Components of oligomeric golgi complex	18622	protein-coding gene	gene with protein product		606978			NA	11980916	Standard		NM_153603	NA	Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.2075C>T	16.37:g.23403772G>A	ENSP00000305442:p.Thr692Ile	NA	Q6UWU7	37	CCDS10610.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662772	0.67700	.	.	ENSG00000168434	ENST00000307149	T	0.42900	0.96	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.60728	0.2291	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.53322	-0.8455	10	0.16420	T	0.52	-37.0723	18.2016	0.89840	0.0:0.0:1.0:0.0	.	692	P83436	COG7_HUMAN	I	692	ENSP00000305442:T692I	ENSP00000305442:T692I	T	-	2	0	COG7	23311273	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	8.013000	0.88655	2.534000	0.85438	0.484000	0.47621	ACC	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000211625.1		-	ENST00000307149.5	Missense_Mutation	SNP	16 : 23403772 - 23403772 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	353	76
MCAM	4162	broad.mit.edu	37	11	119181118	119181118	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119181118G>A	ENST00000264036.4	-	15	1866	c.1852C>T	c.(1852-1854)Cca>Tca	p.P618S	MCAM_ENST00000392814.1_3'UTR	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	618					anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		ATCTCTTCTGGGAGCTTATCT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	100	101			NA	NA	11		NA											NA				119181118		2199	4295	6494	SO:0001583	missense			X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706	4162	4162		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	6934	protein-coding gene	gene with protein product	Gicerin	155735			NA	2602381, 10702685	Standard		XM_005271552	NA	Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.1852C>T	11.37:g.119181118G>A	ENSP00000264036:p.Pro618Ser	NA	O95812|Q59E86|Q6PHR3|Q6ZTR2	37	CCDS31690.1	.	.	.	.	.	.	.	.	.	.	G	9.941	1.217456	0.22373	.	.	ENSG00000076706	ENST00000264036	T	0.54675	0.56	5.28	5.28	0.74379	.	.	.	.	.	T	0.33411	0.0862	N	0.19112	0.55	0.80722	D	1	B	0.27450	0.179	B	0.25884	0.064	T	0.17258	-1.0375	9	0.02654	T	1	-8.3175	14.1784	0.65557	0.0:0.1499:0.8501:0.0	.	618	P43121	MUC18_HUMAN	S	618	ENSP00000264036:P618S	ENSP00000264036:P618S	P	-	1	0	MCAM	118686328	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.896000	0.28377	2.461000	0.83175	0.563000	0.77884	CCA	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388332.2		-	ENST00000264036.4	Missense_Mutation	SNP	11 : 119181118 - 119181118 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	764	118
DHX32	55760	broad.mit.edu	37	10	127529488	127529488	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127529488C>T	ENST00000284690.3	-	8	2111	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	BCCIP_ENST00000429863.2_Intron|DHX32_ENST00000284688.6_Missense_Mutation_p.E460K|BCCIP_ENST00000299130.3_Intron|DHX32_ENST00000368721.1_Missense_Mutation_p.E165K|BCCIP_ENST00000368759.5_Intron	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	541						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)				TGATCTCCTTCGGGATGTAAA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	143	150			NA	NA	10		NA											NA				127529488		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.1621G>A	10.37:g.127529488C>T	ENSP00000284690:p.Glu541Lys	NA	A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	37	CCDS7652.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908434	0.92107	.	.	ENSG00000089876	ENST00000368721;ENST00000284690;ENST00000284688	T;T;T	0.02579	4.24;4.24;4.24	4.75	4.75	0.60458	Helicase-associated domain (2);	0.165187	0.52532	D	0.000075	T	0.08891	0.0220	M	0.88450	2.955	0.53688	D	0.999973	P	0.41214	0.742	B	0.39258	0.295	T	0.02457	-1.1156	10	0.87932	D	0	-11.2385	16.4963	0.84246	0.0:1.0:0.0:0.0	.	541	Q7L7V1	DHX32_HUMAN	K	165;541;460	ENSP00000357710:E165K;ENSP00000284690:E541K;ENSP00000284688:E460K	ENSP00000284688:E460K	E	-	1	0	DHX32	127519478	0.996000	0.38824	0.988000	0.46212	0.956000	0.61745	4.222000	0.58580	2.470000	0.83445	0.655000	0.94253	GAA	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050945.2		-	ENST00000284690.3	Missense_Mutation	SNP	10 : 127529488 - 127529488 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	546	143
NPC1L1	29881	broad.mit.edu	37	7	44561836	44561836	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44561836C>T	ENST00000289547.4	-	11	2698	c.2643G>A	c.(2641-2643)tcG>tcA	p.S881S	NPC1L1_ENST00000381160.3_Silent_p.S881S|NPC1L1_ENST00000546276.1_Intron	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	881					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CAAGCAGGTACGAGTCCTAGG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	45	46			NA	NA	7		NA											NA				44561836		2203	4300	6503	SO:0001819	synonymous_variant				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520	29881	29881			7898	protein-coding gene	gene with protein product		608010	NPC1 (Niemann-Pick disease, type C1, gene)-like 1		NA	10783261	Standard	NM_013389	NM_013389	NA	Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.2643G>A	7.37:g.44561836C>T		NA	A4D2J7|Q6R3Q4|Q9UHC8	37	CCDS5491.1																																																																																			NPC1L1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251256.1		-	ENST00000289547.4	Silent	SNP	7 : 44561836 - 44561836 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	133	28
ZNF730	100129543	broad.mit.edu	37	19	23318771	23318771	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23318771A>G	ENST00000597761.2	+	3	351	c.152A>G	c.(151-153)gAc>gGc	p.D51G	ZNF730_ENST00000593635.1_Missense_Mutation_p.D19G	NM_001277403.1	NP_001264332.1			zinc finger protein 730	NA										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						TCAAAGCCAGACCTGATCACC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			AK131472	CCDS59371.1	19p12	2013-01-08			ENSG00000183850	ENSG00000183850	100129543	100129543		Zinc fingers, C2H2-type, -	32470	protein-coding gene	gene with protein product					NA		Standard	XM_001719792	NM_001277403	NA	Approved		uc031rkc.1	Q6ZMV8		ENST00000597761.2:c.152A>G	19.37:g.23318771A>G	ENSP00000472959:p.Asp51Gly	NA		37	CCDS59371.1	.	.	.	.	.	.	.	.	.	.	A	9.997	1.232395	0.22626	.	.	ENSG00000183850	ENST00000327867	.	.	.	0.195	0.195	0.15151	.	.	.	.	.	T	0.52370	0.1730	M	0.73430	2.235	0.09310	N	1	.	.	.	.	.	.	T	0.48790	-0.9004	5	0.54805	T	0.06	.	.	.	.	.	.	.	.	G	51	.	ENSP00000329365:D51G	D	+	2	0	ZNF730	23110611	0.001000	0.12720	0.016000	0.15963	0.021000	0.10359	-0.072000	0.11486	0.257000	0.21650	0.254000	0.18369	GAC	ZNF730-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465737.2		+	ENST00000597761.2	Missense_Mutation	SNP	19 : 23318771 - 23318771 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	540	90
CSMD3	114788	broad.mit.edu	37	8	113347602	113347602	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113347602T>C	ENST00000297405.5	-	45	7365	c.7121A>G	c.(7120-7122)cAc>cGc	p.H2374R	CSMD3_ENST00000343508.3_Missense_Mutation_p.H2334R|CSMD3_ENST00000455883.2_Missense_Mutation_p.H2270R|CSMD3_ENST00000352409.3_Missense_Mutation_p.H2304R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2374	CUB 13.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAAATCACTGTGGAATTTGAT	0.393		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	106	108			NA	NA	8		NA											NA				113347602		2203	4300	6503	SO:0001583	missense			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796	114788	114788			19291	protein-coding gene	gene with protein product		608399			NA		Standard	NM_052900	NM_052900	NA	Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7121A>G	8.37:g.113347602T>C	ENSP00000297405:p.His2374Arg	NA	Q96PZ3	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.755265	0.69648	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29	4.68	4.68	0.58851	CUB (5);	0.000000	0.85682	D	0.000000	T	0.60843	0.2300	N	0.20357	0.565	0.54753	D	0.999988	D;D;P	0.69078	0.997;0.996;0.627	D;D;P	0.83275	0.996;0.996;0.646	T	0.58595	-0.7609	10	0.25751	T	0.34	.	14.5693	0.68202	0.0:0.0:0.0:1.0	.	2270;2374;2334	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	R	2334;2374;1644;2270;2304	ENSP00000345799:H2334R;ENSP00000297405:H2374R;ENSP00000341558:H1644R;ENSP00000412263:H2270R;ENSP00000343124:H2304R	ENSP00000297405:H2374R	H	-	2	0	CSMD3	113416778	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.762000	0.85270	2.094000	0.63399	0.477000	0.44152	CAC	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347141.1		-	ENST00000297405.5	Missense_Mutation	SNP	8 : 113347602 - 113347602 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	240	47
PLXNA4	91584	broad.mit.edu	37	7	132174152	132174152	+	Missense_Mutation	SNP	C	C	T	rs142997259	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:132174152C>T	ENST00000359827.3	-	3	2232	c.1270G>A	c.(1270-1272)Gtc>Atc	p.V424I	PLXNA4_ENST00000423507.2_Missense_Mutation_p.V424I|PLXNA4_ENST00000378539.5_Missense_Mutation_p.V424I|PLXNA4_ENST00000321063.4_Missense_Mutation_p.V424I			Q9HCM2	PLXA4_HUMAN	plexin A4	424	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCCGTGAAGACGGGAATTCCA	0.502		NA											C	5	0.0023	NA	NA	2184	0.0017	1	,	,	NA	3e-04	0.01	NA	NA	0.0023	0.9906	LOWCOV,EXOME	NA	NA	8e-04	SNP								NA				0								C	ILE/VAL,ILE/VAL,ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	112	92	99		1270,1270,1270	4.3	0.9	7	dbSNP_134	99	19,8581	14.0+/-48.4	0,19,4281	yes	missense,missense,missense	PLXNA4	NM_001105543.1,NM_020911.1,NM_181775.3	29,29,29	0,21,6482	TT,TC,CC	NA	0.2209,0.0454,0.1615	benign,benign,benign	424/493,424/1895,424/523	132174152	21,12985	2203	4300	6503	SO:0001583	missense			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866	91584	91584		Plexins	9102	protein-coding gene	gene with protein product		604280	plexin A4, A, plexin A4, B	PLXNA4A, PLXNA4B	NA		Standard	NM_181775	NM_181775	NA	Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1270G>A	7.37:g.132174152C>T	ENSP00000352882:p.Val424Ile	NA	Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	37	CCDS43646.1	5	0.0022893772893772895	0	0.0	0	0.0	1	0.0017482517482517483	4	0.005277044854881266	C	9.939	1.217033	0.22373	4.54E-4	0.002209	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	5.22	4.26	0.50523	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.236540	0.26574	U	0.023617	T	0.06508	0.0167	L	0.45698	1.435	0.40578	D	0.98136	B;B;B	0.15473	0.006;0.013;0.003	B;B;B	0.15870	0.003;0.014;0.002	T	0.12967	-1.0527	10	0.27785	T	0.31	.	7.7108	0.28677	0.0:0.8352:0.0:0.1648	.	424;424;424	Q9HCM2-2;A4D1N6;Q9HCM2	.;.;PLXA4_HUMAN	I	424	ENSP00000323194:V424I;ENSP00000352882:V424I;ENSP00000392772:V424I;ENSP00000367800:V424I	ENSP00000323194:V424I	V	-	1	0	PLXNA4	131824692	0.997000	0.39634	0.949000	0.38748	0.046000	0.14306	2.770000	0.47662	2.712000	0.92718	0.650000	0.86243	GTC	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000338422.2		-	ENST00000359827.3	Missense_Mutation	SNP	7 : 132174152 - 132174152 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	228	44
ERMAP	114625	broad.mit.edu	37	1	43296571	43296571	+	Missense_Mutation	SNP	G	G	A	rs146247630		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43296571G>A	ENST00000372517.2	+	4	462	c.218G>A	c.(217-219)cGc>cAc	p.R73H	ERMAP_ENST00000487556.1_Intron|ERMAP_ENST00000328249.3_5'UTR|ERMAP_ENST00000372514.3_Missense_Mutation_p.R73H	NM_001017922.1	NP_001017922.1	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	73	Ig-like V-type.					integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTCCCGCAGCGCTCCCAGGCT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	61	56	58		218,218	-7.9	0	1	dbSNP_134	58	0,8600		0,0,4300	no	missense,missense	ERMAP	NM_001017922.1,NM_018538.3	29,29	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	73/476,73/476	43296571	1,13005	2203	4300	6503	SO:0001583	missense			AF311284	CCDS475.1	1p34	2014-07-19	2006-02-23		ENSG00000164010	ENSG00000164010	114625	114625		Blood group antigens, Immunoglobulin superfamily / V-set domain containing, Butyrophilins	15743	protein-coding gene	gene with protein product		609017	Radin blood group, Scianna blood group, erythroblast membrane-associated protein, erythroblast membrane-associated protein (RD and SC blood groups)	RD, SC	NA	11549310	Standard	NM_018538	XM_005270415	NA	Approved	BTN5	uc001cie.1	Q96PL5	OTTHUMG00000007619	ENST00000372517.2:c.218G>A	1.37:g.43296571G>A	ENSP00000361595:p.Arg73His	NA	D3DPW8|Q5VV53|Q6DUE0|Q7Z3X0|Q8NCV8|Q8NCW2|Q8NCW3|Q96PL6	37	CCDS475.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941175	0.73557	2.27E-4	0.0	ENSG00000164010	ENST00000372517;ENST00000372514	T;T	0.65732	-0.17;-0.17	4.97	-7.88	0.01178	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.993010	0.02380	N	0.078693	T	0.41442	0.1159	N	0.25485	0.75	0.20403	N	0.999905	B;D	0.54047	0.161;0.964	B;P	0.45946	0.012;0.498	T	0.53187	-0.8474	10	0.14656	T	0.56	.	0.3555	0.00356	0.24:0.2245:0.1643:0.3712	.	134;73	B7Z3C6;Q96PL5	.;ERMAP_HUMAN	H	73	ENSP00000361595:R73H;ENSP00000361592:R73H	ENSP00000361592:R73H	R	+	2	0	ERMAP	43069158	0.000000	0.05858	0.000000	0.03702	0.477000	0.33069	-0.950000	0.03889	-1.200000	0.02662	0.460000	0.39030	CGC	ERMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000020180.1		+	ENST00000372517.2	Missense_Mutation	SNP	1 : 43296571 - 43296571 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	112	25
FAM178A	55719	broad.mit.edu	37	10	102689733	102689733	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102689733C>A	ENST00000238961.4	+	8	2854	c.2312C>A	c.(2311-2313)gCt>gAt	p.A771D	FAM178A_ENST00000370269.3_Missense_Mutation_p.A771D	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	NA											NA						GGACAAAGTGCTGTAGAAAAA	0.279		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	45	43			NA	NA	10		NA											NA				102689733		2189	4279	6468	SO:0001583	missense			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906	NA	55719			17814	protein-coding gene	gene with protein product		610348	chromosome 10 open reading frame 6	C10orf6	NA	12459258	Standard		NM_018121	NA	Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.2312C>A	10.37:g.102689733C>A	ENSP00000238961:p.Ala771Asp	NA	A8K950|Q5W0L8|Q9NPE8	37	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031971	0.75504	.	.	ENSG00000119906	ENST00000238961;ENST00000370269	T;T	0.33216	1.42;1.42	5.39	5.39	0.77823	.	0.219124	0.40728	N	0.001031	T	0.39036	0.1063	N	0.22421	0.69	0.38401	D	0.945651	D;D	0.62365	0.991;0.991	P;P	0.61874	0.895;0.895	T	0.10590	-1.0623	10	0.26408	T	0.33	-14.4674	17.8977	0.88893	0.0:1.0:0.0:0.0	.	771;771	Q8IX21;B1AL17	F178A_HUMAN;.	D	771	ENSP00000238961:A771D;ENSP00000359292:A771D	ENSP00000238961:A771D	A	+	2	0	FAM178A	102679723	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.668000	0.46816	2.804000	0.96469	0.655000	0.94253	GCT	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049897.3		+	ENST00000238961.4	Missense_Mutation	SNP	10 : 102689733 - 102689733 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	40
BBS10	79738	broad.mit.edu	37	12	76740146	76740146	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76740146A>G	ENST00000393262.3	-	2	1702	c.1619T>C	c.(1618-1620)tTa>tCa	p.L540S		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	540					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						GTTCTTGAGTAATGGTTCATA	0.363		NA							Bardet-Biedl syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	123	124			NA	NA	12		NA											NA				76740146		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941	79738	79738		Heat Shock Proteins / Chaperonins	26291	protein-coding gene	gene with protein product		610148	chromosome 12 open reading frame 58	C12orf58	NA	16582908	Standard	NM_024685	NM_024685	NA	Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.1619T>C	12.37:g.76740146A>G	ENSP00000376946:p.Leu540Ser	NA	Q96CW2|Q9H5D2	37	CCDS9014.2	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.062276	0.00386	.	.	ENSG00000179941	ENST00000393262	D	0.85861	-2.04	4.69	0.647	0.17796	.	1.854630	0.02745	N	0.116791	T	0.72534	0.3472	N	0.19112	0.55	0.09310	N	1	B	0.17465	0.022	B	0.14023	0.01	T	0.54833	-0.8234	10	0.21540	T	0.41	0.4892	2.1329	0.03754	0.4868:0.2422:0.0772:0.1938	.	540	Q8TAM1	BBS10_HUMAN	S	540	ENSP00000376946:L540S	ENSP00000376946:L540S	L	-	2	0	BBS10	75264277	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.150000	0.16263	0.023000	0.15187	0.533000	0.62120	TTA	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000303983.2		-	ENST00000393262.3	Missense_Mutation	SNP	12 : 76740146 - 76740146 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	535	105
PFKFB1	5207	broad.mit.edu	37	X	54978518	54978518	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54978518G>A	ENST00000375006.3	-	8	736	c.666C>T	c.(664-666)gaC>gaT	p.D222D	PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Silent_p.D157D	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	222	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						GTGTGCCCACGTCGAAGATCT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	90	106			NA	NA	X		NA											NA				54978518		2203	4300	6503	SO:0001819	synonymous_variant				CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	5207	5207	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX	NA	9119406	Standard		NM_002625	NA	Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.666C>T	X.37:g.54978518G>A		NA	B2RA88|Q5JXS5|Q99951	37	CCDS14364.1																																																																																			PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056847.1		-	ENST00000375006.3	Silent	SNP	X : 54978518 - 54978518 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	118	42
RFX6	222546	broad.mit.edu	37	6	117241504	117241504	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117241504T>C	ENST00000332958.2	+	12	1230	c.1214T>C	c.(1213-1215)gTc>gCc	p.V405A		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	405					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GACCAGCATGTCGTTAATTCT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													207	188	195			NA	NA	6		NA											NA				117241504		2203	4300	6503	SO:0001583	missense			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002	222546	222546			21478	protein-coding gene	gene with protein product		612659	regulatory factor X domain containing 1	RFXDC1	NA		Standard	NM_173560	NM_173560	NA	Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1214T>C	6.37:g.117241504T>C	ENSP00000332208:p.Val405Ala	NA	Q5T6B3	37	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	T	17.48	3.399836	0.62177	.	.	ENSG00000185002	ENST00000332958	T	0.55930	0.49	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.38321	0.1036	L	0.56769	1.78	0.58432	D	0.99999	P	0.39665	0.682	B	0.36134	0.218	T	0.46555	-0.9183	10	0.54805	T	0.06	-16.6606	15.8276	0.78727	0.0:0.0:0.0:1.0	.	405	Q8HWS3	RFX6_HUMAN	A	405	ENSP00000332208:V405A	ENSP00000332208:V405A	V	+	2	0	RFX6	117348197	1.000000	0.71417	0.916000	0.36221	0.782000	0.44232	7.649000	0.83500	2.122000	0.65172	0.533000	0.62120	GTC	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041970.2		+	ENST00000332958.2	Missense_Mutation	SNP	6 : 117241504 - 117241504 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	887	156
SLC16A1	6566	broad.mit.edu	37	1	113471841	113471841	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113471841G>A	ENST00000538576.1	-	2	921	c.90C>T	c.(88-90)atC>atT	p.I30I	SLC16A1_ENST00000369626.3_Silent_p.I30I|SLC16A1_ENST00000478835.1_5'UTR|SLC16A1_ENST00000433570.4_Silent_p.I30I	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	30					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	AAGAGAAGCCGATGGAAATGA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	55	56			NA	NA	1		NA											NA				113471841		2203	4300	6503	SO:0001819	synonymous_variant			BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380	6566	6566		Solute carriers	10922	protein-coding gene	gene with protein product		600682	solute carrier family 16 (monocarboxylic acid transporters), member 1, solute carrier family 16, member 1 (monocarboxylic acid transporter 1)		NA	8124722, 7835905	Standard	NM_003051	NM_003051	NA	Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.90C>T	1.37:g.113471841G>A		NA	Q5T8R6|Q9NSJ9	37	CCDS858.1																																																																																			SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033539.1		-	ENST00000538576.1	Silent	SNP	1 : 113471841 - 113471841 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	15
EXOSC9	5393	broad.mit.edu	37	4	122732759	122732759	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122732759G>A	ENST00000512454.1	+	7	928	c.712G>A	c.(712-714)Gct>Act	p.A238T	EXOSC9_ENST00000243498.5_Missense_Mutation_p.A254T|EXOSC9_ENST00000379663.3_Missense_Mutation_p.A254T|EXOSC9_ENST00000509980.1_3'UTR			Q06265	EXOS9_HUMAN	exosome component 9	254	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						CAGTAAAATCGCTGGTGTGAA	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	53	52			NA	NA	4		NA											NA				122732759		2203	4297	6500	SO:0001583	missense			M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	5393	5393	3.1.13.-		9137	protein-coding gene	gene with protein product	polymyositis/scleroderma autoantigen 1 (75kD)	606180	polymyositis/scleroderma autoantigen 1, 75kDa	PMSCL1	NA		Standard	NM_005033	XR_427545	NA	Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000512454.1:c.712G>A	4.37:g.122732759G>A	ENSP00000425782:p.Ala238Thr	NA	Q12883|Q4W5P5|Q86Y41|Q86Y48	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.8|23.8	4.463947|4.463947	0.84425|0.84425	.|.	.|.	ENSG00000123737|ENSG00000123737	ENST00000243498;ENST00000379663;ENST00000509800;ENST00000512454|ENST00000511132	T;T;T;T|.	0.62941|.	-0.01;-0.01;-0.01;-0.01|.	5.82|5.82	5.82|5.82	0.92795|0.92795	Exoribonuclease, phosphorolytic domain 2 (2);|.	0.046429|.	0.85682|.	D|.	0.000000|.	T|T	0.76870|0.76870	0.4048|0.4048	M|M	0.85197|0.85197	2.74|2.74	0.80722|0.80722	D|D	1|1	P;D;P|.	0.56746|.	0.939;0.977;0.955|.	B;B;P|.	0.45406|.	0.25;0.35;0.479|.	T|T	0.78723|0.78723	-0.2093|-0.2093	10|5	0.56958|.	D|.	0.05|.	-30.9715|-30.9715	11.4169|11.4169	0.49958|0.49958	0.1138:0.0:0.8862:0.0|0.1138:0.0:0.8862:0.0	.|.	238;254;254|.	D6RIY6;Q06265;Q06265-2|.	.;EXOS9_HUMAN;.|.	T|H	254;254;208;238|89	ENSP00000243498:A254T;ENSP00000368984:A254T;ENSP00000422205:A208T;ENSP00000425782:A238T|.	ENSP00000243498:A254T|.	A|R	+|+	1|2	0|0	EXOSC9|EXOSC9	122952209|122952209	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	6.056000|6.056000	0.71111|0.71111	2.747000|2.747000	0.94245|0.94245	0.655000|0.655000	0.94253|0.94253	GCT|CGC	EXOSC9-005	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000360748.1		+	ENST00000512454.1	Missense_Mutation	SNP	4 : 122732759 - 122732759 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	137	30
HIST1H4G	8369	broad.mit.edu	37	6	26247128	26247128	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26247128A>T	ENST00000244537.4	-	1	131	c.78T>A	c.(76-78)aaT>aaA	p.N26K		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g	26					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TGCCCTGAATATTATCGCTCA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	51	52			NA	NA	6		NA											NA				26247128		2203	4300	6503	SO:0001583	missense			Z80788	CCDS4599.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124578	ENSG00000275663	8369	8369		Histones / Replication-dependent	4792	protein-coding gene	gene with protein product		602832	H4 histone family, member L, histone 1, H4g	H4FL	NA	9119399, 12408966	Standard	NM_003547	NM_003547	NA	Approved	H4/l	uc003nhf.3	Q99525	OTTHUMG00000014444	ENST00000244537.4:c.78T>A	6.37:g.26247128A>T	ENSP00000244537:p.Asn26Lys	NA		37	CCDS4599.1	.	.	.	.	.	.	.	.	.	.	.	8.463	0.855664	0.17106	.	.	ENSG00000124578	ENST00000244537	.	.	.	3.2	0.309	0.15820	Histone-fold (2);	.	.	.	.	T	0.40862	0.1134	.	.	.	0.31287	N	0.689934	P	0.50443	0.935	P	0.53760	0.734	T	0.35051	-0.9804	7	0.87932	D	0	.	10.5532	0.45101	0.1981:0.0:0.8019:0.0	.	26	Q99525	H4G_HUMAN	K	26	.	ENSP00000244537:N26K	N	-	3	2	HIST1H4G	26355107	1.000000	0.71417	0.995000	0.50966	0.005000	0.04900	2.112000	0.41892	0.193000	0.20303	-1.877000	0.00547	AAT	HIST1H4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040107.1		-	ENST00000244537.4	Missense_Mutation	SNP	6 : 26247128 - 26247128 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	269	52
JPH4	84502	broad.mit.edu	37	14	24045124	24045124	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24045124G>A	ENST00000397118.3	-	4	1823	c.921C>T	c.(919-921)ggC>ggT	p.G307G	JPH4_ENST00000356300.4_Silent_p.G307G	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	307					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CCAGCCACTCGCCCTCGTAGC	0.741		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													7	8	7			NA	NA	14		NA											NA				24045124		1863	3754	5617	SO:0001819	synonymous_variant			AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051	84502	84502			20156	protein-coding gene	gene with protein product			junctophilin like 1	JPHL1	NA	11347906	Standard	NM_032452	NM_032452	NA	Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.921C>T	14.37:g.24045124G>A		NA	D3DS53|Q8ND44|Q96DQ0	37	CCDS9603.1																																																																																			JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413853.1		-	ENST00000397118.3	Silent	SNP	14 : 24045124 - 24045124 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	146	18
CTSB	1508	broad.mit.edu	37	8	11706619	11706619	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11706619G>A	ENST00000353047.6	-	5	635	c.382C>T	c.(382-384)Cac>Tac	p.H128Y	CTSB_ENST00000434271.1_Missense_Mutation_p.H128Y|CTSB_ENST00000534510.1_Missense_Mutation_p.H128Y|CTSB_ENST00000533455.1_Missense_Mutation_p.H128Y|CTSB_ENST00000345125.3_Missense_Mutation_p.H128Y|CTSB_ENST00000415599.2_Intron|CTSB_ENST00000525076.1_5'UTR|CTSB_ENST00000530640.2_Missense_Mutation_p.H128Y|CTSB_ENST00000531089.1_Missense_Mutation_p.H128Y|CTSB_ENST00000453527.2_Missense_Mutation_p.H128Y	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	128					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		ACGCTGACGTGCGCATTGGTG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	49	54			NA	NA	8		NA											NA				11706619		2203	4300	6503	SO:0001583	missense			M14221	CCDS5986.1	8p23.1	2012-10-02			ENSG00000164733	ENSG00000164733	1508	1508	3.4.22.1	Cathepsins	2527	protein-coding gene	gene with protein product		116810			NA	8112600, 3463996	Standard	NM_147780	XM_006716244	NA	Approved		uc003wuq.3	P07858	OTTHUMG00000090799	ENST00000353047.6:c.382C>T	8.37:g.11706619G>A	ENSP00000345672:p.His128Tyr	NA	B3KQR5|B3KRR5|Q503A6|Q96D87	37	CCDS5986.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.236222	0.39498	.	.	ENSG00000164733	ENST00000434271;ENST00000353047;ENST00000530640;ENST00000531089;ENST00000453527;ENST00000345125;ENST00000533455;ENST00000534510;ENST00000541328;ENST00000534636;ENST00000533572;ENST00000530296;ENST00000526195;ENST00000527243;ENST00000534149;ENST00000526645	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21	5.54	0.945	0.19543	Peptidase C1A, papain C-terminal (2);	0.753217	0.12991	N	0.422495	T	0.78805	0.4341	N	0.17631	0.505	0.20307	N	0.999912	B	0.02656	0.0	B	0.04013	0.001	T	0.68096	-0.5499	10	0.87932	D	0	.	13.8957	0.63770	0.0:0.0:0.3848:0.6152	.	128	P07858	CATB_HUMAN	Y	128;128;128;128;128;128;128;128;34;128;128;128;128;128;128;128	ENSP00000415889:H128Y;ENSP00000345672:H128Y;ENSP00000435105:H128Y;ENSP00000433215:H128Y;ENSP00000409917:H128Y;ENSP00000342070:H128Y;ENSP00000432244:H128Y;ENSP00000434217:H128Y;ENSP00000436159:H128Y;ENSP00000433995:H128Y;ENSP00000435074:H128Y;ENSP00000436627:H128Y;ENSP00000434725:H128Y;ENSP00000436122:H128Y;ENSP00000431518:H128Y	ENSP00000342070:H128Y	H	-	1	0	CTSB	11744028	0.678000	0.27586	0.000000	0.03702	0.893000	0.52053	1.123000	0.31308	0.206000	0.20587	0.462000	0.41574	CAC	CTSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207586.3		-	ENST00000353047.6	Missense_Mutation	SNP	8 : 11706619 - 11706619 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	216	39
FAM151A	338094	broad.mit.edu	37	1	55080452	55080452	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55080452C>T	ENST00000302250.2	-	4	656	c.496G>A	c.(496-498)Gtc>Atc	p.V166I	FAM151A_ENST00000371304.2_Missense_Mutation_p.V166I|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	166						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GGCCGCCGGACTTTGCCTTCC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	98	105			NA	NA	1		NA											NA				55080452		2203	4300	6503	SO:0001583	missense			AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391	338094	338094			25032	protein-coding gene	gene with protein product			chromosome 1 open reading frame 179	C1orf179	NA	17273976	Standard	NM_176782	NM_176782	NA	Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.496G>A	1.37:g.55080452C>T	ENSP00000306888:p.Val166Ile	NA	Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	37	CCDS594.1	.	.	.	.	.	.	.	.	.	.	C	0.049	-1.257499	0.01457	.	.	ENSG00000162391	ENST00000302250;ENST00000371304;ENST00000294370	T;T	0.11063	2.81;2.81	3.6	0.589	0.17452	.	0.233360	0.31246	N	0.007982	T	0.03477	0.0100	N	0.05078	-0.115	0.09310	N	1	B	0.17038	0.02	B	0.20955	0.032	T	0.44982	-0.9292	10	0.06236	T	0.91	-17.4804	5.7578	0.18182	0.0:0.3913:0.0:0.6087	.	166	Q8WW52	F151A_HUMAN	I	166	ENSP00000306888:V166I;ENSP00000360353:V166I	ENSP00000294370:V166I	V	-	1	0	FAM151A	54853040	0.100000	0.21855	0.040000	0.18447	0.064000	0.16182	0.299000	0.19138	0.294000	0.22547	0.462000	0.41574	GTC	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000027342.1		-	ENST00000302250.2	Missense_Mutation	SNP	1 : 55080452 - 55080452 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	69
USH2A	7399	broad.mit.edu	37	1	216040414	216040414	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216040414C>A	ENST00000307340.3	-	44	9166	c.8780G>T	c.(8779-8781)aGa>aTa	p.R2927I	USH2A_ENST00000366943.2_Missense_Mutation_p.R2927I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2927	Fibronectin type-III 16.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTGGCTCCTCTCTCTGGAAG	0.468		NA								HNSCC(13;0.011)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	131	142			NA	NA	1		NA											NA				216040414		2203	4300	6503	SO:0001583	missense			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781	7399	7399		Fibronectin type III domain containing	12601	protein-coding gene	gene with protein product	usherin	608400		USH2	NA	9624053, 10729113	Standard	NM_007123	NM_007123	NA	Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8780G>T	1.37:g.216040414C>A	ENSP00000305941:p.Arg2927Ile	NA	Q5VVM9|Q6S362|Q9NS27	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267238	0.80469	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.52526	0.66;0.66	5.72	4.71	0.59529	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.153716	0.30043	N	0.010554	T	0.55465	0.1922	M	0.63428	1.95	0.44555	D	0.997512	D	0.54397	0.966	P	0.58331	0.837	T	0.53415	-0.8442	10	0.38643	T	0.18	.	6.9019	0.24286	0.0:0.8028:0.0:0.1972	.	2927	O75445	USH2A_HUMAN	I	2927	ENSP00000305941:R2927I;ENSP00000355910:R2927I	ENSP00000305941:R2927I	R	-	2	0	USH2A	214107037	0.990000	0.36364	1.000000	0.80357	0.871000	0.50021	0.982000	0.29539	2.711000	0.92665	0.557000	0.71058	AGA	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128138.1		-	ENST00000307340.3	Missense_Mutation	SNP	1 : 216040414 - 216040414 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	74
CAPN3	825	broad.mit.edu	37	15	42693957	42693957	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42693957G>A	ENST00000397163.3	+	11	1692	c.1473G>A	c.(1471-1473)aaG>aaA	p.K491K	CAPN3_ENST00000349748.3_Silent_p.K443K|CAPN3_ENST00000357568.3_Silent_p.K491K|CAPN3_ENST00000356316.3_Silent_p.K404K|CAPN3_ENST00000318023.7_Silent_p.K491K|RP11-164J13.1_ENST00000495723.1_RNA	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	491	Domain III.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		ACCGGCGGAAGGACCGGAAGC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	61	64			NA	NA	15		NA											NA				42693957		2203	4299	6502	SO:0001819	synonymous_variant			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	825	825	3.4.22.52	EF-hand domain containing	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A	NA	2555341, 7720071	Standard		NM_024344	NA	Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.1473G>A	15.37:g.42693957G>A		NA	A6H8K6|Q9BTU4|Q9Y5S6|Q9Y5S7	37	CCDS45245.1																																																																																			CAPN3-009	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421075.1		+	ENST00000397163.3	Silent	SNP	15 : 42693957 - 42693957 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	193	41
NPFFR2	10886	broad.mit.edu	37	4	72994599	72994599	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:72994599C>A	ENST00000308744.6	+	2	695	c.597C>A	c.(595-597)ttC>ttA	p.F199L	NPFFR2_ENST00000358749.3_Missense_Mutation_p.F97L|NPFFR2_ENST00000395999.1_Missense_Mutation_p.F100L|NPFFR2_ENST00000344413.5_Intron	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	199					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TTGGCATATTCTGCATGCCTA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	127	129			NA	NA	4		NA											NA				72994599		2203	4300	6503	SO:0001583	missense			AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291	10886	10886		GPCR / Class A :  Neuropeptide receptors : FF/AF, GPCR / Class A : RF amide peptide receptors	4525	protein-coding gene	gene with protein product	neuropeptide FF 2	607449	G protein-coupled receptor 74	GPR74	NA	10079187, 10851242	Standard	NM_004885	NM_001144756	NA	Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.597C>A	4.37:g.72994599C>A	ENSP00000307822:p.Phe199Leu	NA	Q96RV1|Q9NR49	37	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244796	0.59103	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.69175	-0.38;-0.38;-0.38	5.75	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000064	T	0.68366	0.2993	L	0.55743	1.74	0.58432	D	0.999999	P;P	0.50710	0.924;0.938	P;P	0.54372	0.635;0.75	T	0.65063	-0.6259	10	0.29301	T	0.29	.	9.2198	0.37370	0.0:0.7274:0.0:0.2726	.	100;199	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	L	199;100;97	ENSP00000307822:F199L;ENSP00000379321:F100L;ENSP00000351599:F97L	ENSP00000307822:F199L	F	+	3	2	NPFFR2	73213463	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.605000	0.36815	1.362000	0.46000	0.650000	0.86243	TTC	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252170.2		+	ENST00000308744.6	Missense_Mutation	SNP	4 : 72994599 - 72994599 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	751	130
CLCA4	22802	broad.mit.edu	37	1	87025637	87025637	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:87025637C>T	ENST00000370563.3	+	2	224	c.182C>T	c.(181-183)aCg>aTg	p.T61M	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	61						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	p.T61M(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		ACAGCTTCTACGTACCTGTTT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											138	124	128			NA	NA	1		NA											NA				87025637		1820	4083	5903	SO:0001583	missense			AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602	22802	22802			2018	protein-coding gene	gene with protein product			chloride channel, calcium activated, family member 4, chloride channel regulator 4		NA	10437792	Standard	NM_012128	NM_012128	NA	Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.182C>T	1.37:g.87025637C>T	ENSP00000359594:p.Thr61Met	NA	Q6UX81|Q9UNF7	37	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303901	0.40795	.	.	ENSG00000016602	ENST00000370563	T	0.12465	2.68	5.82	2.79	0.32731	Chloride channel calcium-activated (1);	0.957600	0.08747	N	0.899695	T	0.10380	0.0254	M	0.72894	2.215	0.18873	N	0.999986	P	0.42483	0.781	P	0.48571	0.582	T	0.30357	-0.9981	10	0.33940	T	0.23	-4.8939	6.2731	0.20965	0.2637:0.5996:0.0:0.1366	.	61	Q14CN2	CLCA4_HUMAN	M	61	ENSP00000359594:T61M	ENSP00000359594:T61M	T	+	2	0	CLCA4	86798225	0.000000	0.05858	0.161000	0.22692	0.786000	0.44442	0.637000	0.24659	0.768000	0.33290	0.655000	0.94253	ACG	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000028292.1		+	ENST00000370563.3	Missense_Mutation	SNP	1 : 87025637 - 87025637 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	680	66
MYT1L	23040	broad.mit.edu	37	2	1893190	1893190	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1893190C>T	ENST00000399161.2	-	16	3090	c.2343G>A	c.(2341-2343)agG>agA	p.R781R	MYT1L_ENST00000428368.2_Silent_p.R779R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	781					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGTCCCGCGGCCTCTGCTTGT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	61	60			NA	NA	2		NA											NA				1893190		2046	4187	6233	SO:0001819	synonymous_variant			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487	23040	23040		Zinc fingers, C2HC-type containing	7623	protein-coding gene	gene with protein product	neural zinc finger transcription factor 1	613084			NA	9373037	Standard	NM_015025	XM_006711862	NA	Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2343G>A	2.37:g.1893190C>T		NA	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	37																																																																																				MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000322493.1		-	ENST00000399161.2	Silent	SNP	2 : 1893190 - 1893190 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	425	71
AC012123.1	0	broad.mit.edu	37	18	30350182	30350182	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:30350182G>A	ENST00000426194.1	+	1	173				KLHL14_ENST00000358095.4_Silent_p.L125L|KLHL14_ENST00000359358.4_Silent_p.L125L						NA											NA						TGCAGCACCAGGTTGTTGATG	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	84	81			NA	NA	18		NA											NA				30350182		2203	4300	6503	SO:0001627	intron_variant											NA	NA			NA							NA					NA						ENST00000426194.1:c.158+252G>A	18.37:g.30350182G>A		NA		37																																																																																				AC012123.1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000336609.2		+	ENST00000426194.1	Intron	SNP	18 : 30350182 - 30350182 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	733	152
CUX1	1523	broad.mit.edu	37	7	101747666	101747666	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101747666C>T	ENST00000560541.1	+	0	1078				CUX1_ENST00000550008.2_Silent_p.L153L|CUX1_ENST00000547394.2_Silent_p.L148L|CUX1_ENST00000360264.3_Silent_p.L164L|CUX1_ENST00000292535.7_Silent_p.L153L|CUX1_ENST00000556210.1_Silent_p.L153L|CUX1_ENST00000437600.4_Silent_p.L164L|CUX1_ENST00000292538.4_Silent_p.L164L|CUX1_ENST00000425244.2_Silent_p.L118L|CUX1_ENST00000546411.2_Silent_p.L153L|CUX1_ENST00000393824.3_Silent_p.L127L|CUX1_ENST00000549414.2_Silent_p.L153L			P39880	CUX1_HUMAN	cut-like homeobox 1	NA					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TGAACAGACACTGAAGAACCA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													188	172	177			NA	NA	7		NA											NA				101747666		2203	4300	6503	SO:0001624	3_prime_UTR_variant			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923	1523	1523		Homeoboxes / CUT class	2557	protein-coding gene	gene with protein product	golgi integral membrane protein 6	116896	cut (Drosophila)-like 1 (CCAAT displacement protein), cut-like 1, CCAAT displacement protein (Drosophila)	CUTL1	NA	8468066, 9799793, 15004235	Standard	NM_001913	NM_001202543	NA	Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000560541.1:c.*1075C>T	7.37:g.101747666C>T		NA	Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	37																																																																																				CUX1-019	KNOWN	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000418419.1		+	ENST00000560541.1	3'UTR	SNP	7 : 101747666 - 101747666 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	586	120
BMP1	649	broad.mit.edu	37	8	22059428	22059428	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22059428C>T	ENST00000306385.5	+	16	2890	c.2220C>T	c.(2218-2220)caC>caT	p.H740H	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	740	EGF-like 2; calcium-binding (Potential).				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		ACAACAAGCACGACTGCAAAG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	89	63	72		2220	-6.2	0.2	8		72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BMP1	NM_006129.4		0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077		740/987	22059428	1,13005	2203	4300	6503	SO:0001819	synonymous_variant				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	649	649	3.4.24.19	Bone morphogenetic proteins	1067	protein-coding gene	gene with protein product	procollagen C-endopeptidase	112264	procollagen C-endopeptidase	PCOLC	NA	2004778	Standard	NM_006132	NM_006129	NA	Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2220C>T	8.37:g.22059428C>T		NA	A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	37	CCDS6026.1																																																																																			BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214995.2		+	ENST00000306385.5	Silent	SNP	8 : 22059428 - 22059428 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	126	17
GYLTL1B	120071	broad.mit.edu	37	11	45948141	45948141	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45948141C>A	ENST00000531526.1	+	9	1268	c.1157C>A	c.(1156-1158)gCt>gAt	p.A386D	GYLTL1B_ENST00000325468.5_Missense_Mutation_p.A386D|GYLTL1B_ENST00000389968.3_Missense_Mutation_p.A113D|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.A386D|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.A355D|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.A355D	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	386					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CCACCTGGTGCTGAGCAGGTG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	62	61			NA	NA	11		NA											NA				45948141		2203	4299	6502	SO:0001583	missense				CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905	120071	120071		Glycosyltransferase family 8 domain containing	16522	protein-coding gene	gene with protein product		609709			NA	15661757, 15958417	Standard	NM_152312	XM_005252785	NA	Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.1157C>A	11.37:g.45948141C>A	ENSP00000432869:p.Ala386Asp	NA	A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	37	CCDS31473.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.394301	0.25205	.	.	ENSG00000165905	ENST00000529052;ENST00000531526;ENST00000401752;ENST00000389968;ENST00000325468;ENST00000536139;ENST00000534410	T;T;T;D;T;T	0.82893	0.92;0.93;0.93;-1.66;0.93;0.92	5.45	4.53	0.55603	.	0.349496	0.30686	N	0.009081	T	0.70202	0.3197	L	0.29908	0.895	0.09310	N	1	B;B;B	0.29955	0.129;0.263;0.138	B;B;B	0.26614	0.071;0.045;0.065	T	0.57568	-0.7789	10	0.26408	T	0.33	-3.7422	8.1499	0.31134	0.0:0.7569:0.1576:0.0854	.	355;355;386	B3KP69;E9PIZ2;Q8N3Y3	.;.;LARG2_HUMAN	D	355;386;386;113;386;355;47	ENSP00000431932:A355D;ENSP00000432869:A386D;ENSP00000385235:A386D;ENSP00000374618:A113D;ENSP00000324570:A386D;ENSP00000445044:A355D	ENSP00000324570:A386D	A	+	2	0	GYLTL1B	45904717	0.001000	0.12720	0.159000	0.22649	0.527000	0.34593	0.440000	0.21592	1.284000	0.44531	0.561000	0.74099	GCT	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392572.1		+	ENST00000531526.1	Missense_Mutation	SNP	11 : 45948141 - 45948141 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	55
PEX7	5191	broad.mit.edu	37	6	137191085	137191085	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137191085G>A	ENST00000318471.4	+	7	772	c.691G>A	c.(691-693)Gta>Ata	p.V231I	PEX7_ENST00000541292.1_Missense_Mutation_p.V231I	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	231					ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		CTTAAGGAATGTACGACAACC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													248	249	249			NA	NA	6		NA											NA				137191085		2203	4300	6503	SO:0001583	missense			AF180814	CCDS5180.1	6q21-q22.2	2013-01-10			ENSG00000112357	ENSG00000112357	5191	5191		WD repeat domain containing	8860	protein-coding gene	gene with protein product	Refsum disease	601757			NA	9090381, 10673331	Standard	NM_000288	NM_000288	NA	Approved	PTS2R, RD	uc003qhd.3	O00628	OTTHUMG00000015650	ENST00000318471.4:c.691G>A	6.37:g.137191085G>A	ENSP00000315680:p.Val231Ile	NA		37	CCDS5180.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274149	0.23221	.	.	ENSG00000112357	ENST00000541292;ENST00000318471	T;T	0.81078	-1.45;-1.45	5.84	3.74	0.42951	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.393088	0.27807	N	0.017771	T	0.47229	0.1434	N	0.20401	0.57	0.31429	N	0.673373	B	0.02656	0.0	B	0.01281	0.0	T	0.25641	-1.0126	10	0.22109	T	0.4	-31.2596	10.1468	0.42769	0.2279:0.0:0.7721:0.0	.	231	O00628	PEX7_HUMAN	I	231	ENSP00000441004:V231I;ENSP00000315680:V231I	ENSP00000315680:V231I	V	+	1	0	PEX7	137232778	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	1.641000	0.37197	1.456000	0.47831	0.591000	0.81541	GTA	PEX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042387.2		+	ENST00000318471.4	Missense_Mutation	SNP	6 : 137191085 - 137191085 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1376	113
FRMPD1	22844	broad.mit.edu	37	9	37744962	37744962	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37744962G>A	ENST00000539465.1	+	16	3526	c.2933G>A	c.(2932-2934)gGc>gAc	p.G978D	FRMPD1_ENST00000377765.3_Missense_Mutation_p.G978D|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	978						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GGTTCATCTGGCCCAGATACT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	107	108			NA	NA	9		NA											NA				37744962		2203	4300	6503	SO:0001583	missense			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601	22844	22844			29159	protein-coding gene	gene with protein product					NA	10231032	Standard	NM_014907	NM_014907	NA	Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.2933G>A	9.37:g.37744962G>A	ENSP00000444411:p.Gly978Asp	NA	D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	37	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806782	0.50421	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.06449	3.3;3.3	5.17	-0.546	0.11840	.	0.984665	0.08339	N	0.961171	T	0.04952	0.0133	N	0.24115	0.695	0.09310	N	1	P	0.44877	0.845	B	0.41135	0.348	T	0.45789	-0.9237	10	0.30078	T	0.28	-4.4383	8.542	0.33399	0.4994:0.0:0.5006:0.0	.	978	Q5SYB0	FRPD1_HUMAN	D	978	ENSP00000366995:G978D;ENSP00000444411:G978D	ENSP00000366995:G978D	G	+	2	0	FRMPD1	37734962	0.000000	0.05858	0.007000	0.13788	0.501000	0.33797	-0.111000	0.10807	-0.025000	0.13918	0.462000	0.41574	GGC	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402969.1		+	ENST00000539465.1	Missense_Mutation	SNP	9 : 37744962 - 37744962 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	730	142
MSMO1	6307	broad.mit.edu	37	4	166254711	166254711	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:166254711C>A	ENST00000261507.6	+	2	362	c.189C>A	c.(187-189)ttC>ttA	p.F63L	MSMO1_ENST00000393766.2_Intron|MSMO1_ENST00000504317.1_Missense_Mutation_p.F63L	NM_006745.4	NP_006736.1	Q15800	ERG25_HUMAN	methylsterol monooxygenase 1	63					cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding	p.F63L(1)			NA					NADH(DB00157)	CCCTTTATTTCTTATTCTGTT	0.279		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											90	94	93			NA	NA	4		NA											NA				166254711		2203	4298	6501	SO:0001583	missense			U93162	CCDS3809.1, CCDS43280.1	4q32-q34	2013-03-04	2011-09-01	2011-09-01	ENSG00000052802	ENSG00000052802	6307	6307	1.14.13.72	Fatty acid hydroxylase domain containing	10545	protein-coding gene	gene with protein product		607545	sterol-C4-methyl oxidase-like	SC4MOL	NA	8663358	Standard	NM_006745	NM_006745	NA	Approved	DESP4, ERG25	uc003ire.3	Q15800	OTTHUMG00000161126	ENST00000261507.6:c.189C>A	4.37:g.166254711C>A	ENSP00000261507:p.Phe63Leu	NA	A8K8Q3|D3DP32|Q32Q24	37	CCDS3809.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186492	0.38609	.	.	ENSG00000052802	ENST00000261507;ENST00000507013;ENST00000504317;ENST00000505270	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.58	3.85	0.44370	.	0.000000	0.85682	D	0.000000	T	0.58278	0.2111	M	0.90145	3.09	0.80722	D	1	B;B	0.12013	0.005;0.003	B;B	0.15484	0.013;0.003	T	0.57435	-0.7812	10	0.46703	T	0.11	-18.31	10.0691	0.42322	0.0:0.7285:0.0:0.2715	.	63;63	D6R952;Q15800	.;MSMO1_HUMAN	L	63	ENSP00000261507:F63L;ENSP00000425241:F63L;ENSP00000423633:F63L;ENSP00000425112:F63L	ENSP00000261507:F63L	F	+	3	2	SC4MOL	166474161	1.000000	0.71417	0.968000	0.41197	0.790000	0.44656	1.956000	0.40382	0.718000	0.32166	0.561000	0.74099	TTC	MSMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363880.1		+	ENST00000261507.6	Missense_Mutation	SNP	4 : 166254711 - 166254711 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	196	35
FMR1	2332	broad.mit.edu	37	X	147026464	147026464	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:147026464C>A	ENST00000370475.4	+	15	1675	c.1547C>A	c.(1546-1548)gCt>gAt	p.A516D	FMR1_ENST00000370470.1_Splice_Site_p.A491D|FMR1_ENST00000439526.2_Missense_Mutation_p.A493D|FMR1_ENST00000440235.2_Missense_Mutation_p.A163D|FMR1_ENST00000218200.8_Missense_Mutation_p.A495D|FMR1_ENST00000370477.1_Missense_Mutation_p.A483D|FMR1_ENST00000370471.3_Splice_Site_p.L426I	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	516	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					TGGTCATTAGCTCCAACAGAG	0.507		NA							Fragile X syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	57	60			NA	NA	X		NA											NA				147026464		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081	2332	2332			3775	protein-coding gene	gene with protein product		309550	premature ovarian failure 1	POF1, POF	NA	1572655	Standard	NM_002024	NM_002024	NA	Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.1547C>A	X.37:g.147026464C>A	ENSP00000359506:p.Ala516Asp	NA	A6NNH4|D3DWT0|D3DWT1|D3DWT2|Q16578|Q5PQZ6|Q99054	37	CCDS14682.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.94|17.94	3.511002|3.511002	0.64522|0.64522	.|.	.|.	ENSG00000102081|ENSG00000102081	ENST00000218200;ENST00000370477;ENST00000370475;ENST00000439526;ENST00000370470;ENST00000440235|ENST00000370471	T;T;T;T;T;T|T	0.38077|0.55413	1.16;1.16;1.16;1.16;1.5;1.16|0.52	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62356|0.62356	0.2421|0.2421	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	0.998;1.0;0.999;0.999;0.998|.	T|T	0.64097|0.64097	-0.6487|-0.6487	10|7	0.23891|0.66056	T|D	0.37|0.02	-30.7702|-30.7702	17.5377|17.5377	0.87837|0.87837	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	163;516;411;470;493|.	F8W871;Q06787;Q59GC1;Q06787-8;G3V0J0|.	.;FMR1_HUMAN;.;.;.|.	D|I	495;483;516;493;491;163|426	ENSP00000218200:A495D;ENSP00000359508:A483D;ENSP00000359506:A516D;ENSP00000395923:A493D;ENSP00000359501:A491D;ENSP00000413764:A163D|ENSP00000359502:L426I	ENSP00000218200:A495D|ENSP00000359502:L426I	A|L	+|+	2|1	0|0	FMR1|FMR1	146834156|146834156	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.612000|0.612000	0.37316|0.37316	7.218000|7.218000	0.77991|0.77991	2.357000|2.357000	0.79964|0.79964	0.506000|0.506000	0.49869|0.49869	GCT|CTC	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058655.1		+	ENST00000370475.4	Missense_Mutation	SNP	X : 147026464 - 147026464 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	82	8
DIDO1	11083	broad.mit.edu	37	20	61528081	61528081	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61528081G>A	ENST00000266070.4	-	7	2181	c.1856C>T	c.(1855-1857)gCa>gTa	p.A619V	DIDO1_ENST00000395343.1_Missense_Mutation_p.A619V|DIDO1_ENST00000395335.2_Missense_Mutation_p.A619V|DIDO1_ENST00000395340.1_Missense_Mutation_p.A619V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	619					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGTTGCCGCTGCAGGTGCCGG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)							NA				0													48	53	51			NA	NA	20		NA											NA				61528081		2203	4300	6503	SO:0001583	missense			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191	11083	11083		Zinc fingers, PHD-type	2680	protein-coding gene	gene with protein product		604140	chromosome 20 open reading frame 158, death associated transcription factor 1	C20orf158, DATF1	NA	10393935	Standard	NM_080796	NM_033081	NA	Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.1856C>T	20.37:g.61528081G>A	ENSP00000266070:p.Ala619Val	NA	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	37	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.634833	0.29068	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.11604	3.11;3.11;2.76;2.76	5.71	-8.92	0.00774	.	0.584787	0.12503	N	0.463129	T	0.05227	0.0139	N	0.21448	0.665	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.28618	-1.0038	10	0.23891	T	0.37	0.6734	10.4715	0.44640	0.519:0.2212:0.2597:0.0	.	619;619	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	V	619	ENSP00000266070:A619V;ENSP00000378752:A619V;ENSP00000378749:A619V;ENSP00000378744:A619V	ENSP00000266070:A619V	A	-	2	0	DIDO1	60998526	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.201000	0.09464	-2.225000	0.00724	-0.768000	0.03414	GCA	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080091.2		-	ENST00000266070.4	Missense_Mutation	SNP	20 : 61528081 - 61528081 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	615	117
DHX30	22907	broad.mit.edu	37	3	47884644	47884644	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47884644C>T	ENST00000348968.4	+	10	1174	c.754C>T	c.(754-756)Ctc>Ttc	p.L252F	DHX30_ENST00000445061.1_Missense_Mutation_p.L280F|DHX30_ENST00000457607.1_Missense_Mutation_p.L308F|DHX30_ENST00000446256.2_Missense_Mutation_p.L241F			Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	280						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GCTGTCTACACTCACCCTGCT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	141	146			NA	NA	3		NA											NA				47884644		2203	4300	6503	SO:0001583	missense			AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153	22907	22907		DEAH-boxes	16716	protein-coding gene	gene with protein product			DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30, DEAH (Asp-Glu-Ala-His) box polypeptide 30	DDX30	NA	10048485, 18022663	Standard	NM_138615	NM_138615	NA	Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000348968.4:c.754C>T	3.37:g.47884644C>T	ENSP00000343442:p.Leu252Phe	NA	A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	37		.	.	.	.	.	.	.	.	.	.	C	26.1	4.705149	0.89018	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.04706	3.63;3.6;3.62;3.57	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000001	T	0.19287	0.0463	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.996;0.998	T	0.00137	-1.2004	10	0.51188	T	0.08	.	17.8623	0.88784	0.0:1.0:0.0:0.0	.	280;241	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	F	241;280;252;308	ENSP00000392601:L241F;ENSP00000405620:L280F;ENSP00000343442:L252F;ENSP00000394682:L308F	ENSP00000343442:L252F	L	+	1	0	DHX30	47859648	1.000000	0.71417	0.975000	0.42487	0.975000	0.68041	5.579000	0.67457	2.451000	0.82905	0.591000	0.81541	CTC	DHX30-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000346137.1		+	ENST00000348968.4	Missense_Mutation	SNP	3 : 47884644 - 47884644 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	686	114
ANO3	63982	broad.mit.edu	37	11	26465342	26465342	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26465342T>C	ENST00000256737.3	+	3	1124	c.272T>C	c.(271-273)gTg>gCg	p.V91A	ANO3_ENST00000525139.1_Missense_Mutation_p.V75A|ANO3_ENST00000537978.1_Missense_Mutation_p.V75A|ANO3_ENST00000531646.1_Missense_Mutation_p.V91A	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	91						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AACGACTCTGTGCTGAGATGT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	116	117			NA	NA	11		NA											NA				26465342		2203	4300	6503	SO:0001583	missense			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343	63982	63982		Ion channels / Chloride channels : Calcium activated : Anoctamins	14004	protein-coding gene	gene with protein product	transmembrane protein 16C (eight membrane-spanning domains)	610110	chromosome 11 open reading frame 25, transmembrane protein 16C	C11orf25, TMEM16C	NA	12739008, 15067359, 23200863, 24692353	Standard	NM_031418	NM_031418	NA	Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.272T>C	11.37:g.26465342T>C	ENSP00000256737:p.Val91Ala	NA		37	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	T	9.893	1.204778	0.22205	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000531646	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	4.72	0.836	0.18891	.	1.510040	0.03809	N	0.265637	T	0.40015	0.1100	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18272	-1.0342	10	0.05436	T	0.98	.	1.4041	0.02276	0.1765:0.1035:0.183:0.5369	.	91	Q9BYT9	ANO3_HUMAN	A	75;75;91;91	ENSP00000440737:V75A;ENSP00000432576:V75A;ENSP00000256737:V91A;ENSP00000435275:V91A	ENSP00000256737:V91A	V	+	2	0	ANO3	26421918	0.209000	0.23505	0.021000	0.16686	0.037000	0.13140	0.943000	0.29030	0.024000	0.15214	0.482000	0.46254	GTG	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387806.1		+	ENST00000256737.3	Missense_Mutation	SNP	11 : 26465342 - 26465342 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	115	20
ZNF563	147837	broad.mit.edu	37	19	12429836	12429836	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12429836G>A	ENST00000293725.5	-	4	1208	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TTATGAGGTCGATCTCCAGTG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(39;623 795 5132 29510 31476)							NA				0													170	161	164			NA	NA	19		NA											NA				12429836		2203	4300	6503	SO:0001587	stop_gained			BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868	147837	147837		Zinc fingers, C2H2-type, -	30498	protein-coding gene	gene with protein product					NA		Standard	NM_145276	NM_145276	NA	Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.1003C>T	19.37:g.12429836G>A	ENSP00000293725:p.Arg335*	NA	B2R9E7|Q8NAT7	37	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	G	37	6.253265	0.97417	.	.	ENSG00000188868	ENST00000293725	.	.	.	1.0	-2.0	0.07433	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	3.7609	0.08603	0.0:0.1741:0.2295:0.5964	.	.	.	.	X	335	.	ENSP00000293725:R335X	R	-	1	2	ZNF563	12290836	0.000000	0.05858	0.004000	0.12327	0.944000	0.59088	-0.006000	0.12833	-0.855000	0.04125	0.313000	0.20887	CGA	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344114.1		-	ENST00000293725.5	Nonsense_Mutation	SNP	19 : 12429836 - 12429836 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	973	167
GLP2R	9340	broad.mit.edu	37	17	9783772	9783772	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9783772A>C	ENST00000262441.5	+	11	1736	c.1223A>C	c.(1222-1224)cAa>cCa	p.Q408P	GLP2R_ENST00000574745.1_Missense_Mutation_p.Q228P	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	408					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	ACTGATGATCAAGTTGAAGGA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													227	204	212			NA	NA	17		NA											NA				9783772		2203	4300	6503	SO:0001583	missense			AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325	9340	9340		GPCR / Class B : Glucagon receptors	4325	protein-coding gene	gene with protein product		603659			NA	9990065	Standard		NM_004246	NA	Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.1223A>C	17.37:g.9783772A>C	ENSP00000262441:p.Gln408Pro	NA	Q4VAT3	37	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	A	11.43	1.637962	0.29157	.	.	ENSG00000065325	ENST00000396206;ENST00000262441	T	0.46063	0.88	6.03	6.03	0.97812	GPCR, family 2-like (1);	0.405610	0.18344	N	0.144076	T	0.55986	0.1955	L	0.41710	1.295	0.35801	D	0.823106	D	0.69078	0.997	D	0.72982	0.979	T	0.64871	-0.6305	10	0.66056	D	0.02	.	14.0834	0.64939	1.0:0.0:0.0:0.0	.	408	O95838	GLP2R_HUMAN	P	408	ENSP00000262441:Q408P	ENSP00000262441:Q408P	Q	+	2	0	GLP2R	9724497	1.000000	0.71417	0.997000	0.53966	0.645000	0.38454	4.707000	0.61852	2.313000	0.78055	0.454000	0.30748	CAA	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252601.4		+	ENST00000262441.5	Missense_Mutation	SNP	17 : 9783772 - 9783772 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	957	41
MED17	9440	broad.mit.edu	37	11	93529577	93529577	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93529577C>T	ENST00000251871.3	+	7	1301	c.1014C>T	c.(1012-1014)agC>agT	p.S338S	MED17_ENST00000533367.1_3'UTR	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	338					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TATAAATAGGCTTGCAGTTAT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	144	144			NA	NA	11		NA											NA				93529577		2201	4298	6499	SO:0001630	splice_region_variant			AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429	9440	9440			2375	protein-coding gene	gene with protein product		603810	cofactor required for Sp1 transcriptional activation, subunit 6 (77kD), cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa	CRSP6	NA	9989412, 10198638	Standard	NM_004268	NM_004268	NA	Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.1013-1C>T	11.37:g.93529577C>T		NA	B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	37	CCDS8295.1																																																																																			MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394800.2	Silent	+	ENST00000251871.3	Splice_Site	SNP	11 : 93529577 - 93529577 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	497	73
SPATA31E1	286234	broad.mit.edu	37	9	90499930	90499930	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:90499930G>A	ENST00000325643.5	+	4	594	c.528G>A	c.(526-528)ccG>ccA	p.P176P		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1	NA											NA						CCCACCAGCCGCATGGGAAAT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	69	68			NA	NA	9		NA											NA				90499930		2203	4300	6503	SO:0001819	synonymous_variant			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992	286234	286234			26672	protein-coding gene	gene with protein product			chromosome 9 open reading frame 79, family with sequence similarity 75, member E1	C9orf79, FAM75E1	NA		Standard	NM_178828	NM_178828	NA	Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.528G>A	9.37:g.90499930G>A		NA		37	CCDS6676.1																																																																																			SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052954.2		+	ENST00000325643.5	Silent	SNP	9 : 90499930 - 90499930 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	401	118
OR4N4	283694	broad.mit.edu	37	15	22383287	22383287	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:22383287C>A	ENST00000328795.4	+	1	906	c.815C>A	c.(814-816)tCt>tAt	p.S272Y	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S272Y(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		AAGATGGTTTCTCTCTTTCAC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)						C	TYR/SER	1,4377		0,1,2188	197	176	183		815	3.2	1	15		183	0,8522		0,0,4261	no	missense	OR4N4	NM_001005241.2	144	0,1,6449	AA,AC,CC	NA	0.0,0.0228,0.0078	probably-damaging	272/317	22383287	1,12899	2189	4261	6450	SO:0001583	missense			AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706	283694	283694		GPCR / Class A : Olfactory receptors	15375	protein-coding gene	gene with protein product					NA		Standard		NM_001005241	NA	Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.815C>A	15.37:g.22383287C>A	ENSP00000332500:p.Ser272Tyr	NA	Q6IEY3|Q6IF56	37	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	7.985	0.752023	0.15778	2.28E-4	0.0	ENSG00000183706	ENST00000328795	T	0.00274	8.35	3.2	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.153130	0.30979	N	0.008497	T	0.01029	0.0034	H	0.96633	3.855	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.11348	-1.0591	10	0.87932	D	0	-9.0549	12.2303	0.54484	0.0:1.0:0.0:0.0	.	272	Q8N0Y3	OR4N4_HUMAN	Y	272	ENSP00000332500:S272Y	ENSP00000332500:S272Y	S	+	2	0	OR4N4	19884651	0.000000	0.05858	0.997000	0.53966	0.038000	0.13279	0.779000	0.26746	1.784000	0.52394	0.404000	0.27445	TCT	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414922.1		+	ENST00000328795.4	Missense_Mutation	SNP	15 : 22383287 - 22383287 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	715	128
KIAA0232	9778	broad.mit.edu	37	4	6862743	6862743	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6862743G>T	ENST00000307659.5	+	7	1089	c.634G>T	c.(634-636)Gcc>Tcc	p.A212S	KIAA0232_ENST00000425103.1_Missense_Mutation_p.A212S	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	212							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						ATCATCCACAGCCCCACCAGC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	120	118			NA	NA	4		NA											NA				6862743		2046	4199	6245	SO:0001583	missense			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871	9778	9778			28992	protein-coding gene	gene with protein product					NA	9039502	Standard	NM_014743	NM_014743	NA	Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.634G>T	4.37:g.6862743G>T	ENSP00000303928:p.Ala212Ser	NA	A7E2D2	37	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059173	0.76074	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.53	5.53	0.82687	.	0.106608	0.64402	D	0.000005	T	0.53818	0.1820	N	0.24115	0.695	0.39144	D	0.962104	P	0.37370	0.592	B	0.42771	0.397	T	0.60791	-0.7193	9	0.72032	D	0.01	-7.13	19.4461	0.94847	0.0:0.0:1.0:0.0	.	212	Q92628	K0232_HUMAN	S	212	.	ENSP00000303928:A212S	A	+	1	0	KIAA0232	6913644	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.409000	0.80053	2.603000	0.88011	0.655000	0.94253	GCC	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359102.2		+	ENST00000307659.5	Missense_Mutation	SNP	4 : 6862743 - 6862743 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	560	131
MYO15A	51168	broad.mit.edu	37	17	18069767	18069767	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18069767C>T	ENST00000418233.3	+	19	2294	c.1672C>T	c.(1672-1674)Cgg>Tgg	p.R558W	MYO15A_ENST00000451725.2_Intron|MYO15A_ENST00000205890.5_Missense_Mutation_p.R3294W			Q9UKN7	MYO15_HUMAN	myosin XVA	3294	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCTCTGGTTCCGGCGTGTGCT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TRP/ARG	1,4229		0,1,2114	113	124	120		9880	5.5	1	17		120	0,8470		0,0,4235	no	missense	MYO15A	NM_016239.3	101	0,1,6349	TT,TC,CC	NA	0.0,0.0236,0.0079	probably-damaging	3294/3531	18069767	1,12699	2115	4235	6350	SO:0001583	missense			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536	51168	51168		Myosins / Myosin superfamily : Class XV	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15	NA	9603736	Standard	NM_016239	NM_016239	NA	Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000418233.3:c.1672C>T	17.37:g.18069767C>T	ENSP00000408800:p.Arg558Trp	NA		37		.	.	.	.	.	.	.	.	.	.	C	14.30	2.493420	0.44352	2.36E-4	0.0	ENSG00000091536	ENST00000205890;ENST00000418233	D	0.89617	-2.54	5.48	5.48	0.80851	FERM central domain (1);Band 4.1 domain (1);FERM domain (1);	.	.	.	.	D	0.94215	0.8143	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;P;D;D	0.91635	0.999;0.876;0.999;0.991	D	0.94418	0.7638	9	0.62326	D	0.03	.	14.21	0.65759	0.1494:0.8506:0.0:0.0	.	283;558;3294;301	B4DLV9;B4DFC7;Q9UKN7;Q8TCK0	.;.;MYO15_HUMAN;.	W	3294;283	ENSP00000205890:R3294W	ENSP00000205890:R3294W	R	+	1	2	MYO15A	18010492	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.548000	0.53670	2.564000	0.86499	0.491000	0.48974	CGG	MYO15A-009	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000446125.1		+	ENST00000418233.3	Missense_Mutation	SNP	17 : 18069767 - 18069767 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	723	114
EIF5AL1	143244	broad.mit.edu	37	10	81272742	81272742	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81272742C>T	ENST00000520547.2	+	1	386	c.337C>T	c.(337-339)Cgt>Tgt	p.R113C		NM_001099692.1	NP_001093162.1	Q6IS14	IF5AL_HUMAN	eukaryotic translation initiation factor 5A-like 1	113					mRNA transport|peptidyl-lysine modification to hypusine|positive regulation of translational elongation|positive regulation of translational termination|protein transport|translational frameshifting|transmembrane transport	endoplasmic reticulum membrane|nuclear pore	ribosome binding|translation elongation factor activity			endometrium(1)	1	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			AGAGGACCTTCGTCTCCCTGA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	74	70			NA	NA	10		NA											NA				81272742		2199	4295	6494	SO:0001583	missense				CCDS53546.1	10q22.3	2012-04-19			ENSG00000253626	ENSG00000253626	143244	143244			17419	protein-coding gene	gene with protein product			eukaryotic translation initiation factor 5A pseudogene 1	EIF5AP1	NA		Standard	NM_001099692	NM_001099692	NA	Approved	bA342M3.3	uc009xrx.3	Q6IS14	OTTHUMG00000018563	ENST00000520547.2:c.337C>T	10.37:g.81272742C>T	ENSP00000430706:p.Arg113Cys	NA		37	CCDS53546.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.265789	0.23136	.	.	ENSG00000253626	ENST00000520547	T	0.47177	0.85	1.02	-2.03	0.07365	Nucleic acid-binding, OB-fold-like (1);Translation elongation factor, IF5A C-terminal (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.34106	0.0886	L	0.53617	1.68	0.29802	N	0.832317	B	0.21520	0.057	B	0.17098	0.017	T	0.39522	-0.9610	9	0.59425	D	0.04	.	0.3345	0.00324	0.2341:0.3108:0.234:0.2211	.	113	Q6IS14	IF5AL_HUMAN	C	113	ENSP00000430706:R113C	ENSP00000430706:R113C	R	+	1	0	EIF5AL1	80942748	0.013000	0.17824	0.870000	0.34147	0.417000	0.31264	-0.061000	0.11693	-0.418000	0.07450	-0.604000	0.04097	CGT	EIF5AL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048954.4		+	ENST00000520547.2	Missense_Mutation	SNP	10 : 81272742 - 81272742 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	586	45
COL12A1	1303	broad.mit.edu	37	6	75840677	75840677	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:75840677C>T	ENST00000322507.8	-	36	6267	c.5958G>A	c.(5956-5958)acG>acA	p.T1986T	COL12A1_ENST00000345356.6_Silent_p.T822T|COL12A1_ENST00000483888.2_Silent_p.T1986T|COL12A1_ENST00000416123.2_Silent_p.T1986T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1986	Fibronectin type-III 15.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GCACCATGCGCGTGTTTCCTG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	96	95			NA	NA	6		NA											NA				75840677		2071	4226	6297	SO:0001819	synonymous_variant			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799	1303	1303		Proteoglycans / Extracellular Matrix : Collagen proteoglycans, Collagens, Fibronectin type III domain containing	2188	protein-coding gene	gene with protein product	collagen type XII proteoglycan	120320	collagen, type XII, alpha 1-like	COL12A1L	NA	9143499	Standard	NM_004370	XM_006715334	NA	Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.5958G>A	6.37:g.75840677C>T		NA	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	37	CCDS43482.1																																																																																			COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041249.3		-	ENST00000322507.8	Silent	SNP	6 : 75840677 - 75840677 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	444	79
ST6GALNAC1	55808	broad.mit.edu	37	17	74621580	74621580	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74621580G>A	ENST00000156626.7	-	9	1834	c.1635C>T	c.(1633-1635)ggC>ggT	p.G545G		NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	545					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						AGCGCTCATGGCCCTCAGTGA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	62	63			NA	NA	17		NA											NA				74621580		2203	4300	6503	SO:0001819	synonymous_variant			Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526	55808	55808		Sialyltransferases	23614	protein-coding gene	gene with protein product		610138	sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A	SIAT7A	NA		Standard	NM_018414	NM_001289107	NA	Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.1635C>T	17.37:g.74621580G>A		NA	Q6UW90|Q9NSC6	37	CCDS11748.1																																																																																			ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450974.1		-	ENST00000156626.7	Silent	SNP	17 : 74621580 - 74621580 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	282	51
SLC22A4	6583	broad.mit.edu	37	5	131667484	131667484	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131667484T>G	ENST00000200652.3	+	6	1161	c.987T>G	c.(985-987)atT>atG	p.I329M	AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	329					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	AAGCTTTCATTCTGGACCTGT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													170	165	167			NA	NA	5		NA											NA				131667484		2203	4300	6503	SO:0001583	missense			AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208	6583	6583		Solute carriers	10968	protein-coding gene	gene with protein product		604190	solute carrier family 22 (organic cation/ergothioneine transporter), member 4		NA	9426230, 15795384	Standard	NM_003059	NM_003059	NA	Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.987T>G	5.37:g.131667484T>G	ENSP00000200652:p.Ile329Met	NA	O14546	37	CCDS4153.1	.	.	.	.	.	.	.	.	.	.	T	10.76	1.440925	0.25900	.	.	ENSG00000197208	ENST00000200652	T	0.74947	-0.89	5.86	-0.898	0.10550	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.307285	0.39834	N	0.001253	T	0.72407	0.3456	M	0.71581	2.175	0.36416	D	0.864046	B	0.32467	0.372	B	0.39771	0.309	T	0.70498	-0.4855	10	0.35671	T	0.21	.	11.4059	0.49898	0.0:0.3915:0.0:0.6085	.	329	Q9H015	S22A4_HUMAN	M	329	ENSP00000200652:I329M	ENSP00000200652:I329M	I	+	3	3	SLC22A4	131695383	0.990000	0.36364	0.992000	0.48379	0.179000	0.23085	0.358000	0.20216	-0.096000	0.12329	-0.290000	0.09829	ATT	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132661.1		+	ENST00000200652.3	Missense_Mutation	SNP	5 : 131667484 - 131667484 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	691	138
ABCA2	20	broad.mit.edu	37	9	139903232	139903232	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139903232C>T	ENST00000341511.6	-	47	7068	c.7019G>A	c.(7018-7020)gGc>gAc	p.G2340D	ABCA2_ENST00000265662.5_Missense_Mutation_p.G2340D|ABCA2_ENST00000371605.3_Missense_Mutation_p.G2339D	NM_001606.4|NM_212533.2	NP_001597|NP_997698.1	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2339					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCCCAGCACGCCAGACACCTG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	42	40			NA	NA	9		NA											NA				139903232		2173	4251	6424	SO:0001583	missense			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331	20	20		ATP binding cassette transporters / subfamily A	32	protein-coding gene	gene with protein product		600047		ABC2	NA	8088782	Standard	NM_001606	NM_212533	NA	Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000341511.6:c.7019G>A	9.37:g.139903232C>T	ENSP00000344155:p.Gly2340Asp	NA	A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	37	CCDS43909.1	.	.	.	.	.	.	.	.	.	.	C	5.457	0.269470	0.10349	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511;ENST00000490486;ENST00000448336	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14	3.89	2.88	0.33553	.	0.136424	0.47093	U	0.000249	T	0.41119	0.1145	N	0.01771	-0.73	0.37890	D	0.930681	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.49652	-0.8917	10	0.02654	T	1	.	3.2538	0.06824	0.0:0.5802:0.0:0.4198	.	2339;2370	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	D	2340;2339;2370;2340;108;98	ENSP00000265662:G2340D;ENSP00000360666:G2339D;ENSP00000344155:G2340D;ENSP00000420360:G108D;ENSP00000406741:G98D	ENSP00000265662:G2340D	G	-	2	0	ABCA2	139023053	1.000000	0.71417	0.980000	0.43619	0.620000	0.37586	4.803000	0.62546	2.009000	0.58944	0.491000	0.48974	GGC	ABCA2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055199.2		-	ENST00000341511.6	Missense_Mutation	SNP	9 : 139903232 - 139903232 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	65	15
RNF213	57674	broad.mit.edu	37	17	78363064	78363064	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78363064C>T	ENST00000508628.2	+	66	15384	c.15239C>T	c.(15238-15240)aCt>aTt	p.T5080I	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.T3104I|RNF213_ENST00000582970.1_Missense_Mutation_p.T5031I|RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA			Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTAGAAGTCACTCTGGGGTTT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	114	119			NA	NA	17		NA											NA				78363064		2203	4300	6503	SO:0001583	missense			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821	57674	57674		RING-type (C3HC4) zinc fingers	14539	protein-coding gene	gene with protein product		613768	chromosome 17 open reading frame 27, KIAA1618, moyamoya disease 2, Moyamoya disease 2	C17orf27, KIAA1618, MYMY2	NA	10997877, 21048783, 21799892	Standard	NM_020914	NM_020954	NA	Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000508628.2:c.15239C>T	17.37:g.78363064C>T	ENSP00000425956:p.Thr5080Ile	NA	Q69YK7|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406	37		.	.	.	.	.	.	.	.	.	.	C	8.805	0.933888	0.18206	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301;ENST00000427003	T	0.22539	1.95	5.39	3.41	0.39046	.	0.444633	0.22383	N	0.060799	T	0.22859	0.0552	M	0.75447	2.3	0.09310	N	1	B;B	0.24533	0.105;0.014	B;B	0.18871	0.023;0.012	T	0.16958	-1.0385	10	0.44086	T	0.13	.	8.0358	0.30491	0.0:0.6954:0.0:0.3046	.	5031;3104	D6RI12;Q63HN8	.;RN213_HUMAN	I	5031;5080;3104;381	ENSP00000338218:T3104I	ENSP00000338218:T3104I	T	+	2	0	RNF213	75977659	0.009000	0.17119	0.050000	0.19076	0.379000	0.30106	2.150000	0.42254	0.660000	0.30964	0.655000	0.94253	ACT	RNF213-001	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000364861.3		+	ENST00000508628.2	Missense_Mutation	SNP	17 : 78363064 - 78363064 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	304	48
MPV17L2	84769	broad.mit.edu	37	19	18305800	18305800	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18305800C>T	ENST00000599612.2	+	4	568	c.468C>T	c.(466-468)ttC>ttT	p.F156F		NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	156						integral to membrane				large_intestine(1)|lung(2)|urinary_tract(1)	4						CTGCGCAGTTCGTGAACTTCC	0.667		NA											c	1	5e-04	NA	0.0028	2184	NA	0.9995	,	,	NA	4e-04	NA	NA	NA	7e-04	0.6829	EXOME	NA	NA	4e-04	SNP								NA				0													111	108	109			NA	NA	19		NA											NA				18305800		2052	4187	6239	SO:0001819	synonymous_variant			AK094091	CCDS42522.1	19p13.11	2011-05-26			ENSG00000254858	ENSG00000254858	84769	84769			28177	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_032683	NM_032683	NA	Approved	FKSG24, MGC12972	uc002nid.3	Q567V2	OTTHUMG00000165628	ENST00000599612.2:c.468C>T	19.37:g.18305800C>T		NA	Q96P34|Q96QA0|Q9BSG4	37	CCDS42522.1																																																																																			MPV17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466294.2		+	ENST00000599612.2	Silent	SNP	19 : 18305800 - 18305800 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	471	79
CDK18	5129	broad.mit.edu	37	1	205492385	205492385	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205492385C>A	ENST00000360066.2	+	2	391	c.90C>A	c.(88-90)ttC>ttA	p.F30L	CDK18_ENST00000506784.1_Missense_Mutation_p.F30L|CDK18_ENST00000429964.2_Missense_Mutation_p.F30L|CDK18_ENST00000509056.1_Intron	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	28							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						TGGCTGAATTCACGGAGCAAT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(180;489 2072 28461 40831 44265)							NA				0													68	72	71			NA	NA	1		NA											NA				205492385		2203	4300	6503	SO:0001583	missense			X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266	5129	5129		Cyclin-dependent kinases	8751	protein-coding gene	gene with protein product		169190	PCTAIRE protein kinase 3	PCTK3	NA	1437147, 19884882	Standard	NM_002596	NM_002596	NA	Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000360066.2:c.90C>A	1.37:g.205492385C>A	ENSP00000353176:p.Phe30Leu	NA	Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	37	CCDS44300.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592578	0.28357	.	.	ENSG00000117266	ENST00000429964;ENST00000506784;ENST00000360066;ENST00000443813;ENST00000419301	T;T;T;T;T	0.70516	-0.29;-0.49;-0.29;1.97;1.65	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.52208	0.1720	N	0.16307	0.4	0.54753	D	0.999988	B;B	0.13145	0.006;0.007	B;B	0.15870	0.014;0.013	T	0.48917	-0.8992	10	0.06625	T	0.88	-39.0784	15.664	0.77213	0.0:1.0:0.0:0.0	.	30;30	Q07002-3;Q07002-2	.;.	L	30	ENSP00000399082:F30L;ENSP00000423665:F30L;ENSP00000353176:F30L;ENSP00000397831:F30L;ENSP00000391324:F30L	ENSP00000353176:F30L	F	+	3	2	CDK18	203759008	1.000000	0.71417	0.997000	0.53966	0.422000	0.31414	2.510000	0.45468	2.728000	0.93425	0.655000	0.94253	TTC	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090407.2		+	ENST00000360066.2	Missense_Mutation	SNP	1 : 205492385 - 205492385 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	509	145
GNPTAB	79158	broad.mit.edu	37	12	102159023	102159023	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102159023G>A	ENST00000299314.7	-	13	1934	c.1672C>T	c.(1672-1674)Cca>Tca	p.P558S		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	558					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TCACCTTTTGGAATAATATAG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	110	111			NA	NA	12		NA											NA				102159023		2203	4300	6503	SO:0001583	missense			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670	79158	79158		EF-hand domain containing	29670	protein-coding gene	gene with protein product		607840		GNPTA	NA	10574462, 16116615	Standard		NM_024312	NA	Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.1672C>T	12.37:g.102159023G>A	ENSP00000299314:p.Pro558Ser	NA	A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	37	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313537	0.81358	.	.	ENSG00000111670	ENST00000299314	D	0.97161	-4.27	5.96	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.97071	0.9043	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.98025	1.0373	10	0.72032	D	0.01	-16.2415	15.2943	0.73891	0.0669:0.0:0.9331:0.0	.	558	Q3T906	GNPTA_HUMAN	S	558	ENSP00000299314:P558S	ENSP00000299314:P558S	P	-	1	0	GNPTAB	100683154	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.230000	0.95299	1.536000	0.49237	0.655000	0.94253	CCA	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409182.1		-	ENST00000299314.7	Missense_Mutation	SNP	12 : 102159023 - 102159023 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	607	109
ZNF677	342926	broad.mit.edu	37	19	53741328	53741328	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53741328C>T	ENST00000598513.1	-	5	802	c.652G>A	c.(652-654)Gag>Aag	p.E218K	ZNF677_ENST00000333952.4_Missense_Mutation_p.E218K	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		ATAGACTTCTCAACTGGATTA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	56	56			NA	NA	19		NA											NA				53741328		2203	4300	6503	SO:0001583	missense			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928	342926	342926		Zinc fingers, C2H2-type, -	28730	protein-coding gene	gene with protein product	hypothetical protein MGC48625				NA	12477932	Standard	NM_182609	NM_182609	NA	Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.652G>A	19.37:g.53741328C>T	ENSP00000469391:p.Glu218Lys	NA		37	CCDS12861.1	.	.	.	.	.	.	.	.	.	.	C	5.907	0.351466	0.11182	.	.	ENSG00000197928	ENST00000333952	T	0.07567	3.18	2.16	-0.189	0.13260	.	0.527792	0.14232	N	0.332664	T	0.06917	0.0176	L	0.43923	1.385	0.09310	N	0.999996	B	0.09022	0.002	B	0.06405	0.002	T	0.30327	-0.9982	10	0.62326	D	0.03	.	4.9484	0.14002	0.0:0.6387:0.219:0.1423	.	218	Q86XU0	ZN677_HUMAN	K	218	ENSP00000334394:E218K	ENSP00000334394:E218K	E	-	1	0	ZNF677	58433140	0.000000	0.05858	0.004000	0.12327	0.347000	0.29111	0.515000	0.22801	0.028000	0.15324	0.655000	0.94253	GAG	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464189.1		-	ENST00000598513.1	Missense_Mutation	SNP	19 : 53741328 - 53741328 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	62
KCNJ12	3768	broad.mit.edu	37	17	21318826	21318826	+	Missense_Mutation	SNP	G	G	A	rs142399667	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:21318826G>A	ENST00000583088.1	+	3	1067	c.172G>A	c.(172-174)Gcc>Acc	p.A58T	KCNJ12_ENST00000331718.5_Missense_Mutation_p.A58T	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12	NA										NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CATTGAGTTCGCCAACATGGA	0.597		NA								Prostate(3;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA	69,4337	52.3+/-87.9	0,69,2134	197	131	153		172	5.3	1	17	dbSNP_134	153	62,8538	26.8+/-75.7	0,62,4238	yes	missense	KCNJ12	NM_021012.4	58	0,131,6372	AA,AG,GG	NA	0.7209,1.566,1.0072	benign	58/434	21318826	131,12875	2203	4300	6503	SO:0001583	missense			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185	3768	3768		Potassium channels, Voltage-gated ion channels / Potassium channels, Inwardly rectifying	6258	protein-coding gene	gene with protein product		602323	potassium inwardly-rectifying channel, subfamily J, inhibitor 1	KCNJN1	NA	7859381, 12417321, 16382105	Standard	NM_021012	NM_021012	NA	Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.172G>A	17.37:g.21318826G>A	ENSP00000463778:p.Ala58Thr	NA		37	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.692589	0.30052	0.01566	0.007209	ENSG00000184185	ENST00000331718	D	0.93859	-3.3	5.33	5.33	0.75918	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.248894	0.40908	D	0.000997	T	0.77631	0.4159	N	0.16233	0.39	0.36661	D	0.877951	B	0.12630	0.006	B	0.18263	0.021	T	0.80009	-0.1562	10	0.32370	T	0.25	.	10.2342	0.43273	0.1224:0.0:0.8776:0.0	.	58	Q14500	IRK12_HUMAN	T	58	ENSP00000328150:A58T	ENSP00000328150:A58T	A	+	1	0	KCNJ12	21259419	0.993000	0.37304	1.000000	0.80357	0.988000	0.76386	2.230000	0.42999	2.506000	0.84524	0.591000	0.81541	GCC	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255060.2		+	ENST00000583088.1	Missense_Mutation	SNP	17 : 21318826 - 21318826 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	18
TRMT61B	55006	broad.mit.edu	37	2	29092664	29092664	+	Missense_Mutation	SNP	C	C	A	rs140115429		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29092664C>A	ENST00000306108.5	-	1	503	c.480G>T	c.(478-480)gaG>gaT	p.E160D		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	160							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						CCTCCCCAGTCTCAGCTAAAA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ASP/GLU	0,4406		0,0,2203	44	48	47		480	4.3	0.1	2	dbSNP_134	47	2,8598	2.2+/-6.3	0,2,4298	no	missense	TRMT61B	NM_017910.3	45	0,2,6501	AA,AC,CC	NA	0.0233,0.0,0.0154	possibly-damaging	160/478	29092664	2,13004	2203	4300	6503	SO:0001583	missense			BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103	55006	55006			26070	protein-coding gene	gene with protein product					NA	11230166	Standard	NM_017910	NM_017910	NA	Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.480G>T	2.37:g.29092664C>A	ENSP00000302801:p.Glu160Asp	NA	Q9H0Q9|Q9NWS7	37	CCDS1768.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230419	0.58777	0.0	2.33E-4	ENSG00000171103	ENST00000306108	T	0.22134	1.97	5.24	4.35	0.52113	.	0.318671	0.27764	N	0.017947	T	0.16811	0.0404	N	0.10707	0.03	0.35303	D	0.783195	B;P	0.48589	0.002;0.912	B;P	0.49708	0.008;0.62	T	0.21109	-1.0255	10	0.37606	T	0.19	.	14.0724	0.64868	0.0:0.9259:0.0:0.0741	.	160;160	F8WDR2;Q9BVS5	.;TR61B_HUMAN	D	160	ENSP00000302801:E160D	ENSP00000302801:E160D	E	-	3	2	TRMT61B	28946168	0.335000	0.24748	0.063000	0.19743	0.290000	0.27261	1.435000	0.34969	2.459000	0.83118	0.462000	0.41574	GAG	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250224.1		-	ENST00000306108.5	Missense_Mutation	SNP	2 : 29092664 - 29092664 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	55
PITPNM1	9600	broad.mit.edu	37	11	67269540	67269540	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67269540G>A	ENST00000436757.2	-	5	651	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	PITPNM1_ENST00000356404.3_Missense_Mutation_p.R145W|PITPNM1_ENST00000534749.1_Missense_Mutation_p.R145W			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	145					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						ACTGCATCCCGCACGATGTCG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(28;144 709 4607 5525)							NA				0													41	43	42			NA	NA	11		NA											NA				67269540		2200	4294	6494	SO:0001583	missense			X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697	9600	9600			9003	protein-coding gene	gene with protein product	PYK2 N-terminal domain-interacting receptor 2, retinal degeneration B alpha 1	608794		PITPNM	NA	9680295	Standard	NM_004910	NM_004910	NA	Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000436757.2:c.433C>T	11.37:g.67269540G>A	ENSP00000398787:p.Arg145Trp	NA	A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	37	CCDS44659.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818472	0.71028	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404;ENST00000533391;ENST00000532703;ENST00000528559	T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61	4.21	3.28	0.37604	START-like domain (1);	0.296317	0.23682	N	0.045614	T	0.58352	0.2116	L	0.47190	1.495	0.38624	D	0.951207	D;D	0.89917	0.999;1.0	D;D	0.73708	0.949;0.981	T	0.63152	-0.6701	10	0.87932	D	0	-30.3704	10.5497	0.45081	0.0:0.0:0.6498:0.3501	.	145;145	O00562-2;O00562	.;PITM1_HUMAN	W	145	ENSP00000437286:R145W;ENSP00000398787:R145W;ENSP00000348772:R145W;ENSP00000434046:R145W;ENSP00000432977:R145W;ENSP00000434904:R145W	ENSP00000348772:R145W	R	-	1	2	PITPNM1	67026116	0.722000	0.28017	1.000000	0.80357	0.992000	0.81027	1.200000	0.32247	1.097000	0.41459	0.655000	0.94253	CGG	PITPNM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395521.1		-	ENST00000436757.2	Missense_Mutation	SNP	11 : 67269540 - 67269540 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	218	13
SCARA5	286133	broad.mit.edu	37	8	27737093	27737093	+	Silent	SNP	G	G	A	rs143382394	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27737093G>A	ENST00000354914.3	-	8	1829	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	SCARA5_ENST00000380385.2_Silent_p.F223F	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	448	SRCR.				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		TACCTTGCCCGAATCGAGCTG	0.612		NA											G	3	0.0014	0.01	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0014	1	EXOME	NA	NA	0.0023	SNP								NA				0								G		5,4401	9.9+/-24.2	0,5,2198	140	108	119		1344	-2.5	0.7	8	dbSNP_134	119	0,8600		0,0,4300	no	coding-synonymous	SCARA5	NM_173833.5		0,5,6498	AA,AG,GG	NA	0.0,0.1135,0.0384		448/496	27737093	5,13001	2203	4300	6503	SO:0001819	synonymous_variant			AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079	286133	286133			28701	protein-coding gene	gene with protein product		611306	scavenger receptor class A, member 5 (putative)		NA	19154717	Standard	NM_173833	NM_173833	NA	Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.1344C>T	8.37:g.27737093G>A		NA	Q6UXZ1|Q7Z4A1|Q8N4Z7	37	CCDS6064.1																																																																																			SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255223.2		-	ENST00000354914.3	Silent	SNP	8 : 27737093 - 27737093 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	721	34
LHFPL3	375612	broad.mit.edu	37	7	104377124	104377124	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:104377124G>A	ENST00000424859.1	+	2	572	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	LHFPL3_ENST00000543266.1_Intron|LHFPL3_ENST00000535008.1_Intron|LHFPL3_ENST00000401970.2_Missense_Mutation_p.A136T	NM_199000.2	NP_945351.1	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	136						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						TCTCCAAGCTGCCTGCCTTGT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	42	43			NA	NA	7		NA											NA				104377124		1882	4117	5999	SO:0001583	missense			AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416	375612	375612			6589	protein-coding gene	gene with protein product		609719	lipoma HMGIC fusion partner-like 4	LHFPL4	NA	10329012	Standard	NM_199000	NM_199000	NA	Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000424859.1:c.406G>A	7.37:g.104377124G>A	ENSP00000393128:p.Ala136Thr	NA		37		.	.	.	.	.	.	.	.	.	.	G	12.11	1.840857	0.32513	.	.	ENSG00000187416	ENST00000424859;ENST00000401970	T;T	0.71461	-0.57;-0.57	5.22	5.22	0.72569	.	0.163431	0.53938	D	0.000045	T	0.50871	0.1641	N	0.03115	-0.41	0.80722	D	1	B;B	0.17038	0.02;0.02	B;B	0.18263	0.021;0.021	T	0.44345	-0.9334	10	0.25751	T	0.34	-15.1213	19.3361	0.94319	0.0:0.0:1.0:0.0	.	150;150	A1L384;A4D0Q5	.;.	T	136	ENSP00000393128:A136T;ENSP00000385374:A136T	ENSP00000385374:A136T	A	+	1	0	LHFPL3	104164360	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	5.485000	0.66850	2.878000	0.98634	0.650000	0.86243	GCC	LHFPL3-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000348283.1		+	ENST00000424859.1	Missense_Mutation	SNP	7 : 104377124 - 104377124 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	84	12
TANC2	26115	broad.mit.edu	37	17	61497715	61497715	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61497715T>A	ENST00000424789.2	+	25	4376	c.4372T>A	c.(4372-4374)Tca>Aca	p.S1458T	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.S1468T	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1458							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CATCTCCAGCTCACCTCTTGG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	96	97			NA	NA	17		NA											NA				61497715		1978	4165	6143	SO:0001583	missense			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921	26115	26115		Ankyrin repeat domain containing, Tetratricopeptide (TTC) repeat domain containing	30212	protein-coding gene	gene with protein product	rolling pebbles homolog B (Drosophila)	615047			NA		Standard		NM_025185	NA	Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.4372T>A	17.37:g.61497715T>A	ENSP00000387593:p.Ser1458Thr	NA	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	37	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	T	18.79	3.698321	0.68386	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.70986	-0.53;-0.53	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000001	T	0.70193	0.3196	N	0.19112	0.55	0.46241	D	0.998941	P	0.49447	0.924	P	0.57776	0.827	T	0.73154	-0.4072	10	0.51188	T	0.08	.	13.7905	0.63138	0.0:0.0:0.0:1.0	.	1458	Q9HCD6	TANC2_HUMAN	T	1468;1458	ENSP00000374171:S1468T;ENSP00000387593:S1458T	ENSP00000374171:S1468T	S	+	1	0	TANC2	58851447	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.808000	0.75206	2.012000	0.59069	0.459000	0.35465	TCA	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444765.1		+	ENST00000424789.2	Missense_Mutation	SNP	17 : 61497715 - 61497715 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	360	69
KLHL17	339451	broad.mit.edu	37	1	897248	897248	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:897248C>T	ENST00000338591.3	+	4	639	c.532C>T	c.(532-534)Cga>Tga	p.R178*		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	178					actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GAATGGCGTCCGAGACGCTTG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	56	55			NA	NA	1		NA											NA				897248		2203	4300	6503	SO:0001587	stop_gained			AY423763	CCDS30550.1	1p36	2013-01-30	2013-01-30		ENSG00000187961	ENSG00000187961	339451	339451		Kelch-like, BTB/POZ domain containing	24023	protein-coding gene	gene with protein product	actinfilin		kelch-like 17 (Drosophila)		NA	12063253	Standard	NM_198317	NM_198317	NA	Approved		uc001aca.2	Q6TDP4	OTTHUMG00000040721	ENST00000338591.3:c.532C>T	1.37:g.897248C>T	ENSP00000343930:p.Arg178*	NA	Q5SV94	37	CCDS30550.1	.	.	.	.	.	.	.	.	.	.	C	37	6.236927	0.97403	.	.	ENSG00000187961	ENST00000338591;ENST00000455747	.	.	.	5.16	2.01	0.26516	.	0.060359	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.2287	0.31584	0.3856:0.5422:0.0:0.0722	.	.	.	.	X	178;54	.	ENSP00000343930:R178X	R	+	1	2	KLHL17	887111	1.000000	0.71417	0.639000	0.29394	0.925000	0.55904	1.054000	0.30455	0.657000	0.30906	0.561000	0.74099	CGA	KLHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097875.3		+	ENST00000338591.3	Nonsense_Mutation	SNP	1 : 897248 - 897248 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	307	33
CHD5	26038	broad.mit.edu	37	1	6169927	6169927	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6169927C>T	ENST00000262450.3	-	38	5605	c.5506G>A	c.(5506-5508)Gcc>Acc	p.A1836T	CHD5_ENST00000378021.1_Missense_Mutation_p.A693T	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1836					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	p.A1836T(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGGCTCTCGGCGAGGCACTCC	0.662		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)											78	78	78			NA	NA	1		NA											NA				6169927		2203	4300	6503	SO:0001583	missense			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254	26038	26038		Zinc fingers, PHD-type	16816	protein-coding gene	gene with protein product		610771			NA	11889561, 12592387	Standard	NM_015557	NM_015557	NA	Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.5506G>A	1.37:g.6169927C>T	ENSP00000262450:p.Ala1836Thr	NA	O75032|Q5TG89|Q7LGH2|Q9UFR9	37	CCDS57.1	.	.	.	.	.	.	.	.	.	.	c	37	6.365145	0.97507	.	.	ENSG00000116254	ENST00000262450;ENST00000378021;ENST00000377999	D;T	0.92965	-3.14;1.86	4.65	4.65	0.58169	CHD, C-terminal 2 (1);	0.000000	0.64402	D	0.000001	D	0.96131	0.8739	M	0.81239	2.535	0.80722	D	1	P;D	0.76494	0.683;0.999	B;D	0.83275	0.407;0.996	D	0.96838	0.9616	10	0.87932	D	0	-19.1569	17.8789	0.88834	0.0:1.0:0.0:0.0	.	1836;693	Q8TDI0;Q5TG85	CHD5_HUMAN;.	T	1836;693;693	ENSP00000262450:A1836T;ENSP00000367260:A693T	ENSP00000262450:A1836T	A	-	1	0	CHD5	6092514	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.680000	0.84062	2.276000	0.75962	0.511000	0.50034	GCC	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000002823.2		-	ENST00000262450.3	Missense_Mutation	SNP	1 : 6169927 - 6169927 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	560	52
SORCS3	22986	broad.mit.edu	37	10	106937871	106937871	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106937871C>T	ENST00000369701.3	+	14	2176	c.1949C>T	c.(1948-1950)tCg>tTg	p.S650L	SORCS3_ENST00000369699.4_Intron	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	650						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGTTTCACTTCGGTTCCTCTC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(116;1497 1690 7108 13108 14106)							NA				0													239	206	217			NA	NA	10		NA											NA				106937871		2203	4300	6503	SO:0001583	missense			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395	22986	22986			16699	protein-coding gene	gene with protein product		606285			NA	11499680	Standard	NM_014978	NM_014978	NA	Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1949C>T	10.37:g.106937871C>T	ENSP00000358715:p.Ser650Leu	NA	Q5VXF9|Q9NQJ2	37	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.756460	0.31137	.	.	ENSG00000156395	ENST00000369701;ENST00000393176	T;T	0.53640	0.61;0.61	5.48	4.54	0.55810	VPS10 (1);	0.358549	0.26840	N	0.022238	T	0.42539	0.1207	M	0.62088	1.915	0.23855	N	0.996657	B	0.12630	0.006	B	0.08055	0.003	T	0.30208	-0.9986	9	.	.	.	.	9.5487	0.39297	0.0:0.8844:0.0:0.1156	.	650	Q9UPU3	SORC3_HUMAN	L	650;95	ENSP00000358715:S650L;ENSP00000376876:S95L	.	S	+	2	0	SORCS3	106927861	0.000000	0.05858	0.497000	0.27552	0.768000	0.43524	1.064000	0.30579	1.170000	0.42753	0.460000	0.39030	TCG	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050221.1		+	ENST00000369701.3	Missense_Mutation	SNP	10 : 106937871 - 106937871 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	303	57
P2RY2	5029	broad.mit.edu	37	11	72945948	72945948	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72945948C>T	ENST00000311131.2	+	3	1211	c.744C>T	c.(742-744)gcC>gcT	p.A248A	P2RY2_ENST00000393596.2_Silent_p.A248A|P2RY2_ENST00000393597.2_Silent_p.A248A	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	248					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GCACCATCGCCGTGGTGCTGG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	97	100			NA	NA	11		NA											NA				72945948		2200	4293	6493	SO:0001819	synonymous_variant			U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591	5029	5029		Purinergic receptors, GPCR / Class A : Purinergic receptors, P2Y	8541	protein-coding gene	gene with protein product		600041			NA	8159738, 9286708	Standard	NM_176072	NM_002564	NA	Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.744C>T	11.37:g.72945948C>T		NA	B2R9W3|Q96EM8	37	CCDS8219.1																																																																																			P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397336.1		+	ENST00000311131.2	Silent	SNP	11 : 72945948 - 72945948 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	568	114
KLHL31	401265	broad.mit.edu	37	6	53519407	53519407	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:53519407C>A	ENST00000407079.1	-	1	663	c.664G>T	c.(664-666)Gat>Tat	p.D222Y	KLHL31_ENST00000370905.3_Missense_Mutation_p.D222Y			Q9H511	KLH31_HUMAN	kelch-like family member 31	222	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					AAGTCATCATCTATAAGAAGT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	79	79			NA	NA	6		NA											NA				53519407		2203	4300	6503	SO:0001583	missense				CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743	401265	401265		Kelch-like, BTB/POZ domain containing	21353	protein-coding gene	gene with protein product		610749	kelch repeat and BTB (POZ) domain containing 1, kelch-like 31 (Drosophila)	KBTBD1	NA		Standard	NM_001003760	NM_001003760	NA	Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.664G>T	6.37:g.53519407C>A	ENSP00000384644:p.Asp222Tyr	NA	A6N9J2|B2RP49	37	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948747	0.73787	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.70282	-0.47;-0.47	6.04	6.04	0.98038	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.83119	0.5185	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.83293	-0.0032	10	0.87932	D	0	.	20.5792	0.99380	0.0:1.0:0.0:0.0	.	222	Q9H511	KLH31_HUMAN	Y	222	ENSP00000359942:D222Y;ENSP00000384644:D222Y	ENSP00000359942:D222Y	D	-	1	0	KLHL31	53627366	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.873000	0.98535	0.561000	0.74099	GAT	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040965.1		-	ENST00000407079.1	Missense_Mutation	SNP	6 : 53519407 - 53519407 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	445	88
SACS	26278	broad.mit.edu	37	13	23904672	23904672	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23904672C>T	ENST00000382292.3	-	9	13616	c.13343G>A	c.(13342-13344)cGc>cAc	p.R4448H	SACS_ENST00000382298.3_Missense_Mutation_p.R4448H|SACS_ENST00000402364.1_Missense_Mutation_p.R3698H			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4448					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TAGCCATCTGCGTGCTTCCAC	0.468		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	81	88	86		13343	5.8	0.1	13		86	1,8597	1.2+/-3.3	0,1,4298	no	missense	SACS	NM_014363.4	29	0,1,6501	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	4448/4580	23904672	1,13003	2203	4299	6502	SO:0001583	missense			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835	26278	26278		Heat shock proteins / DNAJ (HSP40)	10519	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 138	604490	spastic ataxia of Charlevoix-Saguenay (sacsin)		NA	10610707, 15057823, 21726565	Standard	NM_014363	NM_001278055	NA	Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.13343G>A	13.37:g.23904672C>T	ENSP00000371729:p.Arg4448His	NA	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325834	0.60743	0.0	1.16E-4	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.86497	-2.13;-2.13;-2.13	5.85	5.85	0.93711	HEPN (1);	0.000000	0.85682	D	0.000000	D	0.91081	0.7193	L	0.38175	1.15	0.54753	D	0.999985	D	0.89917	1.0	D	0.76071	0.987	D	0.91393	0.5137	10	0.72032	D	0.01	.	20.1542	0.98100	0.0:1.0:0.0:0.0	.	4448	Q9NZJ4	SACS_HUMAN	H	4448;3698;4448	ENSP00000371729:R4448H;ENSP00000385844:R3698H;ENSP00000371735:R4448H	ENSP00000371729:R4448H	R	-	2	0	SACS	22802672	1.000000	0.71417	0.063000	0.19743	0.063000	0.16089	5.920000	0.70017	2.767000	0.95098	0.563000	0.77884	CGC	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044148.3		-	ENST00000382292.3	Missense_Mutation	SNP	13 : 23904672 - 23904672 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	626	94
MAPK6	5597	broad.mit.edu	37	15	52338703	52338703	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52338703C>T	ENST00000261845.5	+	2	853	c.46C>T	c.(46-48)Ctg>Ttg	p.L16L		NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	16					cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		TGGTTTTGATCTGGGTTCTAG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	149	148			NA	NA	15		NA											NA				52338703		2195	4293	6488	SO:0001819	synonymous_variant			L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956	5597	5597		Mitogen-activated protein kinase cascade / Kinases	6879	protein-coding gene	gene with protein product		602904		PRKM6	NA	8875998	Standard	NM_002748	NM_002748	NA	Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.46C>T	15.37:g.52338703C>T		NA	Q68DH4|Q8IYN8	37	CCDS10147.1																																																																																			MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254841.2		+	ENST00000261845.5	Silent	SNP	15 : 52338703 - 52338703 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	927	88
NOTCH4	4855	broad.mit.edu	37	6	32166826	32166826	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32166826A>C	ENST00000375023.3	-	24	4550	c.4412T>G	c.(4411-4413)aTc>aGc	p.I1471S		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1471					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TCGACGCCGGATGAGCTGGAG	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	50	46			NA	NA	6		NA											NA				32166826		1509	2707	4216	SO:0001583	missense				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301	4855	4855		Ankyrin repeat domain containing	7884	protein-coding gene	gene with protein product		164951	Notch (Drosophila) homolog 4, Notch homolog 4 (Drosophila)	INT3	NA	7835890	Standard		NM_004557	NA	Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.4412T>G	6.37:g.32166826A>C	ENSP00000364163:p.Ile1471Ser	NA	B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	37	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	A	15.97	2.990101	0.54041	.	.	ENSG00000204301	ENST00000375023	T	0.80480	-1.38	4.9	4.9	0.64082	.	0.363413	0.20249	N	0.096138	T	0.55097	0.1899	N	0.20685	0.6	0.80722	D	1	P;B	0.45715	0.865;0.048	P;B	0.48901	0.594;0.025	T	0.61695	-0.7010	10	0.05721	T	0.95	.	8.9676	0.35885	0.8128:0.1872:0.0:0.0	.	1471;1470	Q99466;B0S882	NOTC4_HUMAN;.	S	1471	ENSP00000364163:I1471S	ENSP00000364163:I1471S	I	-	2	0	NOTCH4	32274804	1.000000	0.71417	0.989000	0.46669	0.748000	0.42578	2.467000	0.45093	2.186000	0.69663	0.454000	0.30748	ATC	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076045.2		-	ENST00000375023.3	Missense_Mutation	SNP	6 : 32166826 - 32166826 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	541	27
CCR4	1233	broad.mit.edu	37	3	32995192	32995192	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32995192C>T	ENST00000330953.5	+	2	446	c.278C>T	c.(277-279)cCt>cTt	p.P93L		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	93					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TTTTCCCTCCCTTTTTGGGGC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													231	220	224			NA	NA	3		NA											NA				32995192		2203	4300	6503	SO:0001583	missense			X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813	1233	1233		GPCR / Class A : Chemokine receptors : C-C motif, CD molecules	1605	protein-coding gene	gene with protein product		604836			NA	7642634, 8884276	Standard		NM_005508	NA	Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.278C>T	3.37:g.32995192C>T	ENSP00000332659:p.Pro93Leu	NA	Q9ULY6|Q9ULY7	37	CCDS2656.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934249	0.92458	.	.	ENSG00000183813	ENST00000330953	T	0.72051	-0.62	5.95	5.95	0.96441	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000027	D	0.89382	0.6699	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91205	0.4994	10	0.72032	D	0.01	.	19.9882	0.97356	0.0:1.0:0.0:0.0	.	93	P51679	CCR4_HUMAN	L	93	ENSP00000332659:P93L	ENSP00000332659:P93L	P	+	2	0	CCR4	32970196	1.000000	0.71417	0.954000	0.39281	0.965000	0.64279	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	CCT	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253252.2		+	ENST00000330953.5	Missense_Mutation	SNP	3 : 32995192 - 32995192 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	832	159
IFNA16	3449	broad.mit.edu	37	9	21217213	21217213	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:21217213C>T	ENST00000380216.1	-	1	97	c.92G>A	c.(91-93)aGc>aAc	p.S31N		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	31					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		ATTACCCAGGCTGTGAGTCTG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	94	94			NA	NA	9		NA											NA				21217213		2203	4300	6503	SO:0001583	missense				CCDS34996.1	9p22	2010-12-10			ENSG00000147885	ENSG00000147885	3449	3449		Interferons	5421	protein-coding gene	gene with protein product		147580			NA	1385305	Standard	NM_002173	NM_002173	NA	Approved	IFN-alphaO	uc003zor.1	P05015	OTTHUMG00000019663	ENST00000380216.1:c.92G>A	9.37:g.21217213C>T	ENSP00000369564:p.Ser31Asn	NA	Q5VV12	37	CCDS34996.1	.	.	.	.	.	.	.	.	.	.	-	2.568	-0.300385	0.05532	.	.	ENSG00000147885	ENST00000380216	T	0.03358	3.96	2.62	1.67	0.24075	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.801600	0.11407	N	0.567150	T	0.02888	0.0086	L	0.31526	0.94	0.09310	N	1	B	0.02656	0.0	B	0.12837	0.008	T	0.47381	-0.9122	10	0.24483	T	0.36	.	4.4801	0.11762	0.0:0.6507:0.0:0.3493	.	31	P05015	IFN16_HUMAN	N	31	ENSP00000369564:S31N	ENSP00000369564:S31N	S	-	2	0	IFNA16	21207213	0.000000	0.05858	0.002000	0.10522	0.188000	0.23474	-2.500000	0.00967	0.401000	0.25424	0.184000	0.17185	AGC	IFNA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051892.1		-	ENST00000380216.1	Missense_Mutation	SNP	9 : 21217213 - 21217213 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	673	104
ACBD3	64746	broad.mit.edu	37	1	226349293	226349293	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226349293G>A	ENST00000366812.5	-	4	721	c.667C>T	c.(667-669)Cga>Tga	p.R223*	ACBD3_ENST00000464927.1_5'UTR	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	223	Arg-rich.|Glu-rich.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		tcctcccgtcgaagcctttcc	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	109	117			NA	NA	1		NA											NA				226349293		2203	4300	6503	SO:0001587	stop_gained			AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827	64746	64746		A-kinase anchor proteins	15453	protein-coding gene	gene with protein product	PBR- and PKA-associated protein 7	606809	golgi complex associated protein 1, 60kDa, acyl-Coenzyme A binding domain containing 3	GOLPH1, GOCAP1	NA	12692076, 20150326	Standard	NM_022735	NM_022735	NA	Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.667C>T	1.37:g.226349293G>A	ENSP00000355777:p.Arg223*	NA	B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	37	CCDS1551.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194195	0.78902	.	.	ENSG00000182827	ENST00000366812	.	.	.	4.84	-9.22	0.00675	.	0.369517	0.30911	N	0.008625	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.1957	13.0271	0.58821	0.0922:0.0:0.6626:0.2452	.	.	.	.	X	223	.	ENSP00000355777:R223X	R	-	1	2	ACBD3	224415916	0.000000	0.05858	0.000000	0.03702	0.716000	0.41182	-0.204000	0.09425	-1.427000	0.01992	-1.503000	0.00956	CGA	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091528.1		-	ENST00000366812.5	Nonsense_Mutation	SNP	1 : 226349293 - 226349293 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	414	42
CD97	976	broad.mit.edu	37	19	14517707	14517707	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14517707C>T	ENST00000242786.5	+	17	2222	c.2142C>T	c.(2140-2142)acC>acT	p.T714T	CD97_ENST00000357355.3_Silent_p.T665T|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Silent_p.T621T	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	714					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TCGTGACTACCGTCTGGAAGC	0.562		NA									OREG0025312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													201	217	212			NA	NA	19		NA											NA				14517707		2203	4300	6503	SO:0001819	synonymous_variant				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146	976	976		CD molecules, -, GPCR / Class B : Orphans	1711	protein-coding gene	gene with protein product	leukocyte antigen CD97, seven-span transmembrane protein, seven-transmembrane, heterodimeric receptor associated with inflammation, seven transmembrane helix receptor	601211	CD97 antigen		NA	7636245, 8786105	Standard	NM_078481	NM_078481	NA	Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.2142C>T	19.37:g.14517707C>T		695	A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	37	CCDS32929.1																																																																																			CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459821.2		+	ENST00000242786.5	Silent	SNP	19 : 14517707 - 14517707 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1735	56
ADH1B	125	broad.mit.edu	37	4	100231991	100231991	+	Missense_Mutation	SNP	G	G	A	rs147811380		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100231991G>A	ENST00000305046.8	-	8	1101	c.1034C>T	c.(1033-1035)gCg>gTg	p.A345V	ADH1B_ENST00000394887.3_Missense_Mutation_p.A305V			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	345					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GGTTATTAACGCATCCAGTGA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	114	115	115		1034	2	0	4	dbSNP_134	115	0,8600		0,0,4300	no	missense	ADH1B	NM_000668.4	64	0,2,6501	AA,AG,GG	NA	0.0,0.0454,0.0154	benign	345/376	100231991	2,13004	2203	4300	6503	SO:0001583	missense			AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	125	125	1.1.1.1	Alcohol dehydrogenases	250	protein-coding gene	gene with protein product		103720		ADH2	NA	3006456	Standard	NM_000668	NM_000668	NA	Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.1034C>T	4.37:g.100231991G>A	ENSP00000306606:p.Ala345Val	NA	Q13711|Q4ZGI9|Q96KI7	37	CCDS34033.1	.	.	.	.	.	.	.	.	.	.	G	2.994	-0.207604	0.06180	4.54E-4	0.0	ENSG00000196616	ENST00000305046;ENST00000394887;ENST00000412614	T;T	0.06528	3.29;3.29	3.86	2.03	0.26663	GroES-like (1);	0.489617	0.22393	N	0.060641	T	0.05960	0.0155	L	0.49513	1.565	0.09310	N	1	B;B;B	0.10296	0.001;0.003;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.34129	-0.9841	10	0.56958	D	0.05	0.8131	3.2959	0.06966	0.0879:0.1493:0.4565:0.3063	.	332;305;345	F5HB16;A8MYN5;P00325	.;.;ADH1B_HUMAN	V	345;305;332	ENSP00000306606:A345V;ENSP00000378351:A305V	ENSP00000306606:A345V	A	-	2	0	ADH1B	100451014	0.001000	0.12720	0.000000	0.03702	0.039000	0.13416	1.077000	0.30741	0.189000	0.20188	0.561000	0.74099	GCG	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364853.1		-	ENST00000305046.8	Missense_Mutation	SNP	4 : 100231991 - 100231991 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	588	120
MLXIP	22877	broad.mit.edu	37	12	122622746	122622746	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122622746G>A	ENST00000319080.7	+	13	2292	c.2160G>A	c.(2158-2160)cgG>cgA	p.R720R	MLXIP_ENST00000538698.1_Silent_p.R327R			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		AGCAGAACCGGCAGATGAAGC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(105;787 1493 16200 18566 52466)							NA				0													29	31	30			NA	NA	12		NA											NA				122622746		2175	4270	6445	SO:0001819	synonymous_variant			AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727	22877	22877		Basic helix-loop-helix proteins	17055	protein-coding gene	gene with protein product		608090			NA	10048485, 11073985	Standard	NM_014938	XM_006719290	NA	Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.2160G>A	12.37:g.122622746G>A		NA	A7MBN0|O94945|Q7LC47|Q8IXP1|Q8TAH9|Q8WVQ0|Q8WYA5	37		.	.	.	.	.	.	.	.	.	.	G	10.36	1.329769	0.24167	.	.	ENSG00000175727	ENST00000542417	.	.	.	4.4	2.52	0.30459	.	.	.	.	.	T	0.47432	0.1445	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33929	-0.9849	4	.	.	.	-16.2681	4.6094	0.12395	0.2854:0.1654:0.5492:0.0	.	.	.	.	D	56	.	.	G	+	2	0	MLXIP	121188699	0.995000	0.38212	1.000000	0.80357	0.964000	0.63967	0.251000	0.18257	0.835000	0.34877	0.561000	0.74099	GGC	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000401718.2		+	ENST00000319080.7	Silent	SNP	12 : 122622746 - 122622746 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	72	14
INF2	64423	broad.mit.edu	37	14	105177986	105177986	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105177986C>T	ENST00000392634.4	+	16	2551	c.2439C>T	c.(2437-2439)ccC>ccT	p.P813P	INF2_ENST00000330634.7_Silent_p.P813P	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	813	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		AGAGCCACCCCGACCTCCTGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	69	64			NA	NA	14		NA											NA				105177986		2051	4192	6243	SO:0001819	synonymous_variant			AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485	64423	64423			23791	protein-coding gene	gene with protein product	inverted formin 2	610982	chromosome 14 open reading frame 151, chromosome 14 open reading frame 173	C14orf151, C14orf173	NA	16818491	Standard	NM_022489	NM_001031714	NA	Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.2439C>T	14.37:g.105177986C>T		NA	Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	37	CCDS9989.2																																																																																			INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000074371.4		+	ENST00000392634.4	Silent	SNP	14 : 105177986 - 105177986 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	41
SNRK	54861	broad.mit.edu	37	3	43389079	43389079	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:43389079T>G	ENST00000296088.7	+	7	1632	c.1328T>G	c.(1327-1329)tTc>tGc	p.F443C	SNRK_ENST00000454177.1_Missense_Mutation_p.F443C|SNRK_ENST00000429705.2_Missense_Mutation_p.F443C|SNRK_ENST00000437827.1_Missense_Mutation_p.F237C|RP11-188P20.3_ENST00000607513.1_RNA	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	443					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		AAGTGTCTGTTCAGGGTGGAA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	106	103			NA	NA	3		NA											NA				43389079		2011	4186	6197	SO:0001583	missense			D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788	54861	54861			30598	protein-coding gene	gene with protein product		612760			NA	8654423, 7788527	Standard	NM_017719	NM_017719	NA	Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.1328T>G	3.37:g.43389079T>G	ENSP00000296088:p.Phe443Cys	NA	B2RAV6|Q14706|Q68D15|Q6IQ46|Q9NXI7	37	CCDS43075.1	.	.	.	.	.	.	.	.	.	.	T	17.58	3.423784	0.62733	.	.	ENSG00000163788	ENST00000454177;ENST00000429705;ENST00000296088;ENST00000437827	T;T;T;T	0.68479	-0.33;-0.33;-0.33;2.39	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.74045	0.3665	L	0.44542	1.39	0.58432	D	0.999999	D	0.89917	1.0	D	0.68192	0.956	T	0.73751	-0.3884	10	0.39692	T	0.17	.	14.3828	0.66923	0.0:0.0:0.0:1.0	.	443	Q9NRH2	SNRK_HUMAN	C	443;443;443;237	ENSP00000401246:F443C;ENSP00000411375:F443C;ENSP00000296088:F443C;ENSP00000409516:F237C	ENSP00000296088:F443C	F	+	2	0	SNRK	43364083	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.685000	0.68204	1.867000	0.54127	0.460000	0.39030	TTC	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344325.1		+	ENST00000296088.7	Missense_Mutation	SNP	3 : 43389079 - 43389079 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	203	47
ESRRB	2103	broad.mit.edu	37	14	76905684	76905684	+	Translation_Start_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76905684G>A	ENST00000509242.1	+	0	86				ESRRB_ENST00000261532.7_De_novo_Start_InFrame|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000556177.1_De_novo_Start_InFrame|ESRRB_ENST00000380887.2_De_novo_Start_InFrame	NM_004452.3	NP_004443.3	A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	NA						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		GTGTCCACAGGCTGCTGAACA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	75	74			NA	NA	14		NA											NA				76905684		2177	4259	6436					X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715	2103	2103		Nuclear hormone receptors	3473	protein-coding gene	gene with protein product		602167	deafness, autosomal recessive 35	ESRL2, DFNB35	NA	3267207, 9344655, 18179891	Standard		NM_004452	NA	Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:	14.37:g.76905684G>A		NA		37	CCDS9850.2	.	.	.	.	.	.	.	.	.	.	g	17.56	3.419138	0.62622	.	.	ENSG00000119715	ENST00000512784	D	0.92199	-2.99	4.89	4.89	0.63831	.	.	.	.	.	D	0.94725	0.8298	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.94249	0.7492	5	.	.	.	.	18.0685	0.89398	0.0:0.0:1.0:0.0	.	.	.	.	I	1	ENSP00000424992:M1I	.	M	+	3	0	ESRRB	75975437	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	9.778000	0.99011	2.272000	0.75746	0.655000	0.94253	ATG	ESRRB-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360663.1		+	ENST00000509242.1	De_novo_Start_InFrame	SNP	14 : 76905684 - 76905684 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	902	38
SERPINA9	327657	broad.mit.edu	37	14	94933482	94933482	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94933482C>T	ENST00000337425.5	-	3	994	c.920G>A	c.(919-921)aGa>aAa	p.R307K	SERPINA9_ENST00000546329.1_Missense_Mutation_p.R271K|SERPINA9_ENST00000448305.2_Missense_Mutation_p.R209K|SERPINA9_ENST00000298845.7_Missense_Mutation_p.R207K|SERPINA9_ENST00000424550.2_Missense_Mutation_p.R158K|SERPINA9_ENST00000380365.3_Missense_Mutation_p.R289K	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	289					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TCTCAGTGTTCTGGCTGACAA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	108	110			NA	NA	14		NA											NA				94933482		2001	4197	6198	SO:0001583	missense			AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054	327657	327657		Serine (or cysteine) peptidase inhibitors	15995	protein-coding gene	gene with protein product		615677	serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9		NA	24172014	Standard	NM_175739	NM_175739	NA	Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000337425.5:c.920G>A	14.37:g.94933482C>T	ENSP00000337133:p.Arg307Lys	NA	B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	37	CCDS41982.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.243737	0.22796	.	.	ENSG00000170054	ENST00000448305;ENST00000298845;ENST00000424550;ENST00000337425;ENST00000380365;ENST00000546329	D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	3.89	1.83	0.25207	Serpin domain (3);	0.695785	0.13348	N	0.394612	T	0.63827	0.2544	N	0.12182	0.205	0.09310	N	1	B;B;B;B;B	0.15141	0.001;0.0;0.0;0.0;0.012	B;B;B;B;B	0.14023	0.007;0.004;0.001;0.003;0.01	T	0.49351	-0.8949	10	0.25106	T	0.35	.	4.7624	0.13115	0.0:0.4258:0.4239:0.1503	.	271;289;209;307;207	Q86WD7-4;Q86WD7;Q86WD7-6;Q86WD7-7;Q86WD7-2	.;SPA9_HUMAN;.;.;.	K	209;207;158;307;289;271	ENSP00000414092:R209K;ENSP00000298845:R207K;ENSP00000409012:R158K;ENSP00000337133:R307K;ENSP00000369723:R289K;ENSP00000445476:R271K	ENSP00000298845:R207K	R	-	2	0	SERPINA9	94003235	0.000000	0.05858	0.055000	0.19348	0.965000	0.64279	0.080000	0.14802	0.972000	0.38314	0.462000	0.41574	AGA	SERPINA9-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395757.1		-	ENST00000337425.5	Missense_Mutation	SNP	14 : 94933482 - 94933482 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	408	71
GLO1	2739	broad.mit.edu	37	6	38645126	38645126	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38645126G>A	ENST00000373365.4	-	6	586	c.500C>T	c.(499-501)cCt>cTt	p.P167L	GLO1_ENST00000470973.1_5'UTR	NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	167					anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)	GTAGCCATCAGGATCTTGAAT	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	81	81			NA	NA	6		NA											NA				38645126		2203	4300	6503	SO:0001583	missense			L07837	CCDS4837.1	6p21.3-p21.1	2012-10-02			ENSG00000124767	ENSG00000124767	2739	2739	4.4.1.5		4323	protein-coding gene	gene with protein product	glyoxalase domain containing 1	138750			NA	8449929, 7684374	Standard	NM_006708	NM_006708	NA	Approved	GLOD1	uc003ooc.3	Q04760	OTTHUMG00000014636	ENST00000373365.4:c.500C>T	6.37:g.38645126G>A	ENSP00000362463:p.Pro167Leu	NA	B2R6P7|B4DDV0|P78375|Q59EL0|Q5TZW3|Q96FC0|Q96J41	37	CCDS4837.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.356336	0.82243	.	.	ENSG00000124767	ENST00000373365	T	0.60299	0.2	5.92	5.06	0.68205	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.000000	0.85682	D	0.000000	D	0.84275	0.5436	H	0.99498	4.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91455	0.5184	10	0.87932	D	0	-20.8734	15.1386	0.72590	0.0676:0.0:0.9324:0.0	.	167	Q04760	LGUL_HUMAN	L	167	ENSP00000362463:P167L	ENSP00000362463:P167L	P	-	2	0	GLO1	38753104	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.763000	0.91715	1.518000	0.48934	-0.140000	0.14226	CCT	GLO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040438.2		-	ENST00000373365.4	Missense_Mutation	SNP	6 : 38645126 - 38645126 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	339	66
PPL	5493	broad.mit.edu	37	16	4934369	4934369	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4934369C>T	ENST00000345988.2	-	22	4376	c.4287G>A	c.(4285-4287)gcG>gcA	p.A1429A	PPL_ENST00000590782.2_Silent_p.A1427A	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1429					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCTGCTCCAGCGCTGCCAGCC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	56	55			NA	NA	16		NA											NA				4934369		2171	4254	6425	SO:0001819	synonymous_variant			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898	5493	5493			9273	protein-coding gene	gene with protein product		602871			NA	9570964, 9521878	Standard	NM_002705	NM_002705	NA	Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.4287G>A	16.37:g.4934369C>T		NA	O60314|O60454|Q14C98	37	CCDS10526.1																																																																																			PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251715.1		-	ENST00000345988.2	Silent	SNP	16 : 4934369 - 4934369 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	917	193
DUOX1	53905	broad.mit.edu	37	15	45444185	45444185	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45444185G>A	ENST00000321429.4	+	25	3535	c.3128G>A	c.(3127-3129)cGc>cAc	p.R1043H	DUOX1_ENST00000561166.1_Missense_Mutation_p.R689H|DUOX1_ENST00000389037.3_Missense_Mutation_p.R1043H	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1043	Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		AACTACCGGCGCCACATCGGC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	53	54			NA	NA	15		NA											NA				45444185		2198	4298	6496	SO:0001583	missense			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857	53905	53905		EF-hand domain containing	3062	protein-coding gene	gene with protein product	NADPH thyroid oxidase 1, flavoprotein NADPH oxidase, nicotinamide adenine dinucleotide phosphate oxidase	606758			NA	10806195	Standard	NM_017434	XM_005254463	NA	Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3128G>A	15.37:g.45444185G>A	ENSP00000317997:p.Arg1043His	NA	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	37	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	G	31	5.103198	0.94245	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.87179	-2.22;-2.22	4.17	4.17	0.49024	.	0.000000	0.85682	D	0.000000	D	0.92051	0.7481	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.932	D	0.92687	0.6163	10	0.66056	D	0.02	-27.6461	14.3394	0.66614	0.0:0.0:1.0:0.0	.	176;1043	Q9NT13;Q9NRD9	.;DUOX1_HUMAN	H	1043	ENSP00000317997:R1043H;ENSP00000373689:R1043H	ENSP00000317997:R1043H	R	+	2	0	DUOX1	43231477	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.511000	0.98006	2.302000	0.77476	0.655000	0.94253	CGC	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416251.1		+	ENST00000321429.4	Missense_Mutation	SNP	15 : 45444185 - 45444185 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	42
CHL1	10752	broad.mit.edu	37	3	407729	407729	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:407729A>G	ENST00000256509.2	+	15	2324	c.1682A>G	c.(1681-1683)aAa>aGa	p.K561R	CHL1-AS1_ENST00000417612.1_RNA|CHL1-AS1_ENST00000608098.1_RNA|CHL1_ENST00000397491.2_Missense_Mutation_p.K545R	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	545	Ig-like C2-type 6.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TCACATTTGAAACACAGTTTG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	115	117			NA	NA	3		NA											NA				407729		2203	4300	6503	SO:0001583	missense			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121	10752	10752		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	1939	protein-coding gene	gene with protein product	neural cell adhesion molecule, close homolog of L1	607416	cell adhesion molecule with homology to L1CAM (close homologue of L1), cell adhesion molecule with homology to L1CAM (close homolog of L1)		NA	9799093	Standard	NM_006614	NM_006614	NA	Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.1682A>G	3.37:g.407729A>G	ENSP00000256509:p.Lys561Arg	NA	B7ZL03|Q2M3G2|Q59FY0	37	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	A	4.950	0.176486	0.09443	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.12147	2.71;2.71	5.18	2.79	0.32731	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.267819	0.42821	N	0.000646	T	0.10035	0.0246	L	0.36672	1.1	0.29378	N	0.863517	B;B;B	0.10296	0.003;0.002;0.0	B;B;B	0.11329	0.006;0.006;0.003	T	0.20571	-1.0271	10	0.25751	T	0.34	.	8.0794	0.30735	0.8376:0.0:0.1624:0.0	.	545;545;561	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	R	561;545	ENSP00000256509:K561R;ENSP00000380628:K545R	ENSP00000256509:K561R	K	+	2	0	CHL1	382729	0.796000	0.28864	0.018000	0.16275	0.433000	0.31745	1.362000	0.34148	0.383000	0.24910	0.460000	0.39030	AAA	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207155.2		+	ENST00000256509.2	Missense_Mutation	SNP	3 : 407729 - 407729 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	397	83
PLEKHG6	55200	broad.mit.edu	37	12	6424222	6424222	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6424222T>C	ENST00000449001.2	+	3	744	c.250T>C	c.(250-252)Ttt>Ctt	p.F84L	PLEKHG6_ENST00000396988.3_Missense_Mutation_p.F116L|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.F116L|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.F116L	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	116					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						TTTCAGCATGTTTGGGATGCC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	83	87			NA	NA	12		NA											NA				6424222		2203	4300	6503	SO:0001583	missense			AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323	55200	55200		Pleckstrin homology (PH) domain containing	25562	protein-coding gene	gene with protein product		611743			NA		Standard	NM_018173	NM_018173	NA	Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000449001.2:c.250T>C	12.37:g.6424222T>C	ENSP00000393194:p.Phe84Leu	NA	Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	37	CCDS44808.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.834600	0.91036	.	.	ENSG00000008323	ENST00000011684;ENST00000536531;ENST00000396988;ENST00000449001	T;T;T;T	0.68765	-0.24;-0.19;-0.24;-0.35	5.0	5.0	0.66597	.	0.000000	0.51477	D	0.000090	T	0.80008	0.4545	M	0.78049	2.395	0.80722	D	1	D;D;D	0.65815	0.995;0.992;0.993	D;D;D	0.72625	0.96;0.953;0.978	T	0.81876	-0.0731	10	0.62326	D	0.03	-15.716	11.008	0.47646	0.0:0.0:0.0:1.0	.	84;116;116	Q3KR16-2;F5H731;Q3KR16	.;.;PKHG6_HUMAN	L	116;116;116;84	ENSP00000011684:F116L;ENSP00000442836:F116L;ENSP00000380185:F116L;ENSP00000393194:F84L	ENSP00000011684:F116L	F	+	1	0	PLEKHG6	6294483	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.189000	0.65098	2.101000	0.63845	0.482000	0.46254	TTT	PLEKHG6-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399032.1		+	ENST00000449001.2	Missense_Mutation	SNP	12 : 6424222 - 6424222 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	609	72
ABCA8	10351	broad.mit.edu	37	17	66928609	66928609	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66928609C>T	ENST00000269080.2	-	6	754	c.617G>A	c.(616-618)gGa>gAa	p.G206E	ABCA8_ENST00000586539.1_Missense_Mutation_p.G206E|ABCA8_ENST00000430352.2_Missense_Mutation_p.G206E	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	206						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CATATTTTTTCCAGTAACTGA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	99	100			NA	NA	17		NA											NA				66928609		2203	4300	6503	SO:0001583	missense			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338	10351	10351		ATP binding cassette transporters / subfamily A	38	protein-coding gene	gene with protein product		612505			NA		Standard	NM_007168	XM_005256938	NA	Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.617G>A	17.37:g.66928609C>T	ENSP00000269080:p.Gly206Glu	NA	Q86WW0	37	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390071	0.61956	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225;ENST00000428549	D;D	0.86164	-2.08;-2.08	4.86	4.86	0.63082	.	0.000000	0.50627	D	0.000113	D	0.93041	0.7785	M	0.83603	2.65	0.45541	D	0.998499	D;D;D;D;D	0.89917	0.998;1.0;0.999;0.998;0.999	D;D;D;D;D	0.83275	0.991;0.996;0.991;0.978;0.987	D	0.92106	0.5692	10	0.38643	T	0.18	.	13.6644	0.62387	0.0:1.0:0.0:0.0	.	145;206;206;206;206	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	E	206;206;145;206	ENSP00000269080:G206E;ENSP00000402814:G206E	ENSP00000269080:G206E	G	-	2	0	ABCA8	64440204	0.972000	0.33761	0.965000	0.40720	0.557000	0.35523	2.978000	0.49305	2.686000	0.91538	0.563000	0.77884	GGA	ABCA8-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450172.1		-	ENST00000269080.2	Missense_Mutation	SNP	17 : 66928609 - 66928609 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	507	38
TUBB1	81027	broad.mit.edu	37	20	57598897	57598897	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57598897C>A	ENST00000217133.1	+	4	684	c.415C>A	c.(415-417)Ctg>Atg	p.L139M		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	139					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	CGTCCACTCCCTGGGCGGGGG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	92	88			NA	NA	20		NA											NA				57598897		2203	4300	6503	SO:0001583	missense			AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162	81027	81027		Tubulins	16257	protein-coding gene	gene with protein product	class VI beta-tubulin	612901	tubulin, beta 1		NA		Standard	NM_030773	NM_030773	NA	Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.415C>A	20.37:g.57598897C>A	ENSP00000217133:p.Leu139Met	NA		37	CCDS13475.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669664	0.67814	.	.	ENSG00000101162	ENST00000217133	T	0.73047	-0.71	5.39	3.44	0.39384	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.83755	0.5323	M	0.85945	2.785	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.85763	0.1350	10	0.87932	D	0	.	11.2654	0.49108	0.0:0.8489:0.0:0.1511	.	139	Q9H4B7	TBB1_HUMAN	M	139	ENSP00000217133:L139M	ENSP00000217133:L139M	L	+	1	2	TUBB1	57032292	1.000000	0.71417	0.895000	0.35142	0.967000	0.64934	4.973000	0.63763	1.290000	0.44636	-0.136000	0.14681	CTG	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079903.1		+	ENST00000217133.1	Missense_Mutation	SNP	20 : 57598897 - 57598897 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	612	145
OR1L4	254973	broad.mit.edu	37	9	125486321	125486321	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125486321T>A	ENST00000259466.1	+	1	53	c.53T>A	c.(52-54)cTc>cAc	p.L18H		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CTCCTGGGCCTCTCTTCCAAC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													212	200	204			NA	NA	9		NA											NA				125486321		2203	4300	6503	SO:0001583	missense				CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939	254973	254973		GPCR / Class A : Olfactory receptors	8216	protein-coding gene	gene with protein product				OR1L5	NA		Standard		NM_001005235	NA	Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.53T>A	9.37:g.125486321T>A	ENSP00000259466:p.Leu18His	NA	Q6IFN0|Q96R81	37	CCDS35129.1	.	.	.	.	.	.	.	.	.	.	t	14.80	2.644701	0.47258	.	.	ENSG00000136939	ENST00000259466	T	0.00342	8.03	3.94	3.94	0.45596	.	0.542857	0.15309	N	0.269196	T	0.00784	0.0026	M	0.92412	3.305	0.35383	D	0.79007	D	0.57571	0.98	P	0.53912	0.737	T	0.53279	-0.8461	10	0.87932	D	0	-9.9891	11.9185	0.52779	0.0:0.0:0.0:1.0	.	18	Q8NGR5	OR1L4_HUMAN	H	18	ENSP00000259466:L18H	ENSP00000259466:L18H	L	+	2	0	OR1L4	124526142	0.229000	0.23729	1.000000	0.80357	0.428000	0.31595	3.485000	0.53208	1.646000	0.50622	0.254000	0.18369	CTC	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053951.1		+	ENST00000259466.1	Missense_Mutation	SNP	9 : 125486321 - 125486321 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	734	165
PASD1	139135	broad.mit.edu	37	X	150832667	150832667	+	Missense_Mutation	SNP	C	C	A	rs147926578		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:150832667C>A	ENST00000370357.4	+	11	1163	c.918C>A	c.(916-918)ttC>ttA	p.F306L		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	306						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					ACCTGGAGTTCTCGGTGGATC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	90	96			NA	NA	X		NA											NA				150832667		2203	4300	6503	SO:0001583	missense			AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049	139135	139135			20686	protein-coding gene	gene with protein product	cancer/testis antigen 63				NA	15122589, 15162151	Standard	NM_173493	NM_173493	NA	Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.918C>A	X.37:g.150832667C>A	ENSP00000359382:p.Phe306Leu	NA	Q3MNE0|Q69HD7|Q8N7X9	37	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.297625	0.23650	.	.	ENSG00000166049	ENST00000370357	T	0.66815	-0.23	2.65	-5.3	0.02738	.	.	.	.	.	T	0.36331	0.0963	N	0.19112	0.55	0.09310	N	1	P	0.36837	0.571	B	0.29663	0.105	T	0.19647	-1.0299	9	0.27785	T	0.31	.	1.4193	0.02309	0.1607:0.3324:0.3202:0.1867	.	306	Q8IV76	PASD1_HUMAN	L	306	ENSP00000359382:F306L	ENSP00000359382:F306L	F	+	3	2	PASD1	150583323	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-3.997000	0.00317	-2.092000	0.00857	0.529000	0.55759	TTC	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060879.2		+	ENST00000370357.4	Missense_Mutation	SNP	X : 150832667 - 150832667 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	350	91
SSTR1	6751	broad.mit.edu	37	14	38678962	38678962	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38678962G>A	ENST00000267377.2	+	3	985	c.368G>A	c.(367-369)tGg>tAg	p.W123*		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	123					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	TTGCGCCACTGGCCCTTCGGT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													190	172	178			NA	NA	14		NA											NA				38678962		2203	4300	6503	SO:0001587	stop_gained				CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874	NA	6751		GPCR / Class A : Somatostatin receptors	11330	protein-coding gene	gene with protein product		182451			NA	8449518	Standard		NM_001049	NA	Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.368G>A	14.37:g.38678962G>A	ENSP00000267377:p.Trp123*	NA		37	CCDS9666.1	.	.	.	.	.	.	.	.	.	.	G	42	9.702552	0.99242	.	.	ENSG00000139874	ENST00000267377	.	.	.	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.3669	0.87366	0.0:0.0:1.0:0.0	.	.	.	.	X	123	.	ENSP00000267377:W123X	W	+	2	0	SSTR1	37748713	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.623000	0.98386	2.583000	0.87209	0.655000	0.94253	TGG	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409930.2		+	ENST00000267377.2	Nonsense_Mutation	SNP	14 : 38678962 - 38678962 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	975	215
USP8	9101	broad.mit.edu	37	15	50788095	50788095	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50788095C>T	ENST00000425032.3	+	14	2584	c.2391C>T	c.(2389-2391)gaC>gaT	p.D797D	USP8_ENST00000433963.1_Silent_p.D903D|RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000307179.4_Silent_p.D903D|USP8_ENST00000396444.3_Silent_p.D903D	NM_001283049.1	NP_001269978.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	903					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ATCTCGATGACTTTAAAGCTG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	38	40			NA	NA	15		NA											NA				50788095		2196	4285	6481	SO:0001819	synonymous_variant			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592	9101	9101		Ubiquitin-specific peptidases	12631	protein-coding gene	gene with protein product		603158	ubiquitin specific protease 8		NA	12838346, 9582025, 24482476	Standard	NM_005154	NM_005154	NA	Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000425032.3:c.2391C>T	15.37:g.50788095C>T		NA	Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	37																																																																																				USP8-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000418317.1		+	ENST00000425032.3	Silent	SNP	15 : 50788095 - 50788095 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	290	47
FASTKD2	22868	broad.mit.edu	37	2	207655375	207655375	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207655375C>T	ENST00000236980.6	+	11	2326	c.1978C>T	c.(1978-1980)Cgg>Tgg	p.R660W	FASTKD2_ENST00000402774.3_Missense_Mutation_p.R660W|FASTKD2_ENST00000403094.3_Missense_Mutation_p.R660W	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	660	RAP.				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		TATGAAAATGCGGCATTTGAA	0.368		NA											C	1	5e-04	NA	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0								C	TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	165	166	166		1978,1978,1978	5	1	2		166	0,8600		0,0,4300	no	missense,missense,missense	FASTKD2	NM_001136193.1,NM_001136194.1,NM_014929.3	101,101,101	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	660/711,660/711,660/711	207655375	1,13005	2203	4300	6503	SO:0001583	missense			BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246	22868	22868			29160	protein-coding gene	gene with protein product		612322	KIAA0971	KIAA0971	NA		Standard	NM_014929	NM_014929	NA	Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.1978C>T	2.37:g.207655375C>T	ENSP00000236980:p.Arg660Trp	NA	Q9NVX6|Q9Y2H7	37	CCDS2371.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	22.2	4.255743	0.80135	2.27E-4	0.0	ENSG00000118246	ENST00000236980;ENST00000402774;ENST00000403094	T;T;T	0.54866	0.55;0.55;0.55	5.96	5.04	0.67666	RAP domain (3);	0.000000	0.85682	D	0.000000	T	0.72550	0.3474	M	0.83118	2.625	0.52099	D	0.999948	D	0.89917	1.0	D	0.97110	1.0	T	0.75596	-0.3263	10	0.87932	D	0	-5.9807	11.5783	0.50877	0.2574:0.7426:0.0:0.0	.	660	Q9NYY8	FAKD2_HUMAN	W	660	ENSP00000236980:R660W;ENSP00000385990:R660W;ENSP00000384929:R660W	ENSP00000236980:R660W	R	+	1	2	FASTKD2	207363620	1.000000	0.71417	0.974000	0.42286	0.993000	0.82548	0.806000	0.27126	2.832000	0.97577	0.655000	0.94253	CGG	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256428.2		+	ENST00000236980.6	Missense_Mutation	SNP	2 : 207655375 - 207655375 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	830	96
OR13C8	138802	broad.mit.edu	37	9	107332160	107332160	+	Missense_Mutation	SNP	T	T	G	rs150811269	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107332160T>G	ENST00000335040.1	+	1	712	c.712T>G	c.(712-714)Ttc>Gtc	p.F238V		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						ACATAAGGCCTTCTCCACCTG	0.413		NA											T	2	9e-04	NA	NA	2184	NA	1	,	,	NA	2e-04	0.0026	NA	NA	9e-04	1	LOWCOV,EXOME	NA	NA	0.0012	SNP								NA				0								T	VAL/PHE	0,4406		0,0,2203	144	135	138		712	4.9	1	9	dbSNP_134	138	2,8598	2.2+/-6.3	0,2,4298	yes	missense	OR13C8	NM_001004483.1	50	0,2,6501	GG,GT,TT	NA	0.0233,0.0,0.0154	probably-damaging	238/321	107332160	2,13004	2203	4300	6503	SO:0001583	missense				CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943	138802	138802		GPCR / Class A : Olfactory receptors	15103	protein-coding gene	gene with protein product					NA		Standard		NM_001004483	NA	Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.712T>G	9.37:g.107332160T>G	ENSP00000334068:p.Phe238Val	NA	Q5VVG0|Q96R44	37	CCDS35090.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	T	16.44	3.122941	0.56613	0.0	2.33E-4	ENSG00000186943	ENST00000335040	T	0.00291	8.27	4.9	4.9	0.64082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000021	T	0.01029	0.0034	H	0.95402	3.665	0.31828	N	0.625145	D	0.76494	0.999	D	0.77004	0.989	T	0.01520	-1.1334	10	0.87932	D	0	.	12.791	0.57534	0.0:0.0:0.0:1.0	.	238	Q8NGS7	O13C8_HUMAN	V	238	ENSP00000334068:F238V	ENSP00000334068:F238V	F	+	1	0	OR13C8	106371981	0.762000	0.28451	1.000000	0.80357	0.996000	0.88848	1.275000	0.33144	2.181000	0.69327	0.459000	0.35465	TTC	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053480.1		+	ENST00000335040.1	Missense_Mutation	SNP	9 : 107332160 - 107332160 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	445	109
LRRC47	57470	broad.mit.edu	37	1	3703686	3703686	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3703686G>A	ENST00000378251.1	-	2	831	c.804C>T	c.(802-804)ggC>ggT	p.G268G		NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	268					translation		phenylalanine-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CACGGCCCTTGCCCTTCCCGC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	64	72			NA	NA	1		NA											NA				3703686		2203	4300	6503	SO:0001819	synonymous_variant			AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764	57470	57470			29207	protein-coding gene	gene with protein product					NA	10574461	Standard	NM_020710	NM_020710	NA	Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.804C>T	1.37:g.3703686G>A		NA	Q9ULN5	37	CCDS51.1																																																																																			LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000009744.1		-	ENST00000378251.1	Silent	SNP	1 : 3703686 - 3703686 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	382	42
DOT1L	84444	broad.mit.edu	37	19	2226809	2226809	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2226809C>T	ENST00000398665.3	+	27	4325	c.4289C>T	c.(4288-4290)gCg>gTg	p.A1430V		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1430						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCATCTCTGCGGCGGCCGTG	0.746		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	20	18			NA	NA	19		NA											NA				2226809		1897	4090	5987	SO:0001583	missense			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	84444	84444	2.1.1.43	Chromatin-modifying enzymes / K-methyltransferases	24948	protein-coding gene	gene with protein product	histone methyltransferase DOT1L	607375	DOT1-like, histone H3 methyltransferase (S. cerevisiae)		NA	11347906, 12123582	Standard	NM_032482	NM_032482	NA	Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.4289C>T	19.37:g.2226809C>T	ENSP00000381657:p.Ala1430Val	NA	O60379|Q96JL1	37	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188769	0.57909	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000457590	T;T	0.41400	1.41;1.0	4.42	4.42	0.53409	.	0.000000	0.49305	D	0.000148	T	0.61800	0.2376	M	0.64997	1.995	0.31257	N	0.693341	D;D	0.89917	1.0;0.999	D;D	0.78314	0.962;0.991	T	0.68530	-0.5384	10	0.87932	D	0	-12.0797	16.0032	0.80310	0.0:1.0:0.0:0.0	.	1430;1430	Q8TEK3;Q8TEK3-2	DOT1L_HUMAN;.	V	1430;1430;310	ENSP00000381657:A1430V;ENSP00000407411:A310V	ENSP00000221482:A1430V	A	+	2	0	DOT1L	2177809	0.999000	0.42202	0.626000	0.29213	0.026000	0.11368	6.321000	0.72881	2.003000	0.58678	0.561000	0.74099	GCG	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318066.1		+	ENST00000398665.3	Missense_Mutation	SNP	19 : 2226809 - 2226809 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	325	56
PLA2G7	7941	broad.mit.edu	37	6	46677077	46677077	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46677077C>T	ENST00000274793.7	-	9	1052	c.856G>A	c.(856-858)Gat>Aat	p.D286N	PLA2G7_ENST00000537365.1_Missense_Mutation_p.D286N	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	286					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			AATCTCTGATCTTCACTAAGA	0.284		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	93	92			NA	NA	6		NA											NA				46677077		2203	4296	6499	SO:0001583	missense			U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	7941	7941	3.1.1.4		9040	protein-coding gene	gene with protein product		601690			NA	7700381, 8624782	Standard		NM_005084	NA	Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.856G>A	6.37:g.46677077C>T	ENSP00000274793:p.Asp286Asn	NA	A5HTT5|Q15692|Q5VTT1|Q8IVA2	37	CCDS4917.1	.	.	.	.	.	.	.	.	.	.	C	34	5.345431	0.95807	.	.	ENSG00000146070	ENST00000274793;ENST00000537365	T;T	0.56776	0.44;0.44	5.93	5.93	0.95920	.	0.093957	0.64402	D	0.000001	T	0.70675	0.3251	M	0.79614	2.46	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.71576	-0.4551	10	0.62326	D	0.03	.	19.9513	0.97200	0.0:1.0:0.0:0.0	.	286	Q13093	PAFA_HUMAN	N	286	ENSP00000274793:D286N;ENSP00000445666:D286N	ENSP00000274793:D286N	D	-	1	0	PLA2G7	46785036	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.031000	0.76491	2.814000	0.96858	0.655000	0.94253	GAT	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040802.1		-	ENST00000274793.7	Missense_Mutation	SNP	6 : 46677077 - 46677077 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	447	102
SERPINA10	51156	broad.mit.edu	37	14	94756575	94756575	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94756575G>A	ENST00000554723.1	-	2	894	c.476C>T	c.(475-477)cCg>cTg	p.P159L	SERPINA10_ENST00000261994.4_Missense_Mutation_p.P119L|SERPINA10_ENST00000393096.1_Missense_Mutation_p.P119L|SERPINA10_ENST00000554173.1_Missense_Mutation_p.P119L			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	119					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GGTTTCAGTCGGCCCTGTGGC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	50	50			NA	NA	14		NA											NA				94756575		2203	4300	6503	SO:0001583	missense			AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093	51156	51156		Serine (or cysteine) peptidase inhibitors	15996	protein-coding gene	gene with protein product		605271	serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10		NA	10460162, 9689066, 24172014	Standard	NM_016186	NM_016186	NA	Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000554723.1:c.476C>T	14.37:g.94756575G>A	ENSP00000450896:p.Pro159Leu	NA	A5Z2A5|Q6UWX9|Q86U20	37		.	.	.	.	.	.	.	.	.	.	G	0.314	-0.965782	0.02249	.	.	ENSG00000140093	ENST00000554723;ENST00000393096;ENST00000261994;ENST00000554173	D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29	4.12	-1.12	0.09808	Serpin domain (3);	1.226040	0.05781	N	0.608681	T	0.81361	0.4806	L	0.42245	1.32	0.09310	N	1	B	0.21606	0.058	B	0.08055	0.003	T	0.64449	-0.6405	10	0.45353	T	0.12	.	8.1594	0.31190	0.125:0.0:0.4412:0.4338	.	119	Q9UK55	ZPI_HUMAN	L	159;119;119;119	ENSP00000450896:P159L;ENSP00000376809:P119L;ENSP00000261994:P119L;ENSP00000450971:P119L	ENSP00000261994:P119L	P	-	2	0	SERPINA10	93826328	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.048000	0.11944	-0.410000	0.07542	-2.087000	0.00375	CCG	SERPINA10-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000413060.1		-	ENST00000554723.1	Missense_Mutation	SNP	14 : 94756575 - 94756575 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	60
SRMS	6725	broad.mit.edu	37	20	62178549	62178549	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62178549C>T	ENST00000217188.1	-	1	308	c.268G>A	c.(268-270)Gca>Aca	p.A90T		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	90	SH3.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AGCCTGCGTGCGAAGATGTAG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	99	97			NA	NA	20		NA											NA				62178549		2202	4298	6500	SO:0001583	missense				CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508	6725	6725		SH2 domain containing	11298	protein-coding gene	gene with protein product			chromosome 20 open reading frame 148	C20orf148	NA	7935409	Standard	NM_080823	NM_080823	NA	Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.268G>A	20.37:g.62178549C>T	ENSP00000217188:p.Ala90Thr	NA		37	CCDS13525.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090229	0.36855	.	.	ENSG00000125508	ENST00000217188	T	0.51817	0.69	4.24	4.24	0.50183	Src homology-3 domain (3);	0.000000	0.53938	D	0.000053	T	0.51787	0.1695	M	0.89658	3.05	0.42584	D	0.993225	P	0.34699	0.464	B	0.31751	0.135	T	0.57745	-0.7758	10	0.36615	T	0.2	.	10.051	0.42216	0.0:0.9043:0.0:0.0957	.	90	Q9H3Y6	SRMS_HUMAN	T	90	ENSP00000217188:A90T	ENSP00000217188:A90T	A	-	1	0	SRMS	61648993	0.984000	0.35163	0.101000	0.21167	0.005000	0.04900	2.625000	0.46452	1.899000	0.54978	0.491000	0.48974	GCA	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080148.1		-	ENST00000217188.1	Missense_Mutation	SNP	20 : 62178549 - 62178549 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	261	55
AP3M2	10947	broad.mit.edu	37	8	42012394	42012394	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42012394G>T	ENST00000518421.1	+	3	480	c.189G>T	c.(187-189)aaG>aaT	p.K63N	AP3M2_ENST00000174653.3_Missense_Mutation_p.K63N|AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000396926.3_Missense_Mutation_p.K63N|AP3M2_ENST00000517922.1_Missense_Mutation_p.K63N	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	63					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			ACCGCCACAAGATCTTTTTTG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	89	90			NA	NA	8		NA											NA				42012394		2203	4300	6503	SO:0001583	missense			D38293	CCDS6125.1	8p11.2	2008-07-07			ENSG00000070718	ENSG00000070718	10947	10947			570	protein-coding gene	gene with protein product		610469			NA	7601449	Standard		NM_006803	NA	Approved	CLA20, AP47B	uc003xoo.3	P53677	OTTHUMG00000164060	ENST00000518421.1:c.189G>T	8.37:g.42012394G>T	ENSP00000428787:p.Lys63Asn	NA	B2RCR0|D3DSY2	37	CCDS6125.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.699415	0.30142	.	.	ENSG00000070718	ENST00000518421;ENST00000174653;ENST00000396926;ENST00000522288;ENST00000517922	T;T;T;T	0.75050	-0.88;-0.88;-0.88;-0.9	5.29	5.29	0.74685	Longin-like (1);AP complex, mu/sigma subunit (1);	0.108971	0.64402	D	0.000009	T	0.43366	0.1244	N	0.01197	-0.965	0.44309	D	0.99718	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.52117	-0.8618	10	0.02654	T	1	-23.4747	14.5269	0.67894	0.0:0.1463:0.8537:0.0	.	63;63	E7ER80;P53677	.;AP3M2_HUMAN	N	63	ENSP00000428787:K63N;ENSP00000174653:K63N;ENSP00000380132:K63N;ENSP00000429435:K63N	ENSP00000174653:K63N	K	+	3	2	AP3M2	42131551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.038000	0.30254	2.477000	0.83638	0.555000	0.69702	AAG	AP3M2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376996.1		+	ENST00000518421.1	Missense_Mutation	SNP	8 : 42012394 - 42012394 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	364	28
EFCAB3	146779	broad.mit.edu	37	17	60484019	60484019	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60484019C>A	ENST00000450662.2	+	9	894	c.823C>A	c.(823-825)Ctt>Att	p.L275I	EFCAB3_ENST00000305286.3_Missense_Mutation_p.L223I	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	223							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			ATTTAAATTTCTTGAAGAGCT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	46	46			NA	NA	17		NA											NA				60484019		2203	4300	6503	SO:0001583	missense			AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421	146779	146779		EF-hand domain containing	26379	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_173503	NM_173503	NA	Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000450662.2:c.823C>A	17.37:g.60484019C>A	ENSP00000403932:p.Leu275Ile	NA		37	CCDS45751.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483978	0.63962	.	.	ENSG00000172421	ENST00000450662;ENST00000305286	T;T	0.67865	-0.29;-0.23	5.35	5.35	0.76521	.	0.000000	0.51477	D	0.000085	T	0.80839	0.4700	M	0.75777	2.31	0.35585	D	0.806632	D	0.76494	0.999	D	0.76071	0.987	D	0.86008	0.1499	10	0.87932	D	0	.	14.4283	0.67230	0.0:1.0:0.0:0.0	.	223	Q8N7B9	EFCB3_HUMAN	I	275;223	ENSP00000403932:L275I;ENSP00000302649:L223I	ENSP00000302649:L223I	L	+	1	0	EFCAB3	57837751	0.998000	0.40836	1.000000	0.80357	0.629000	0.37895	1.748000	0.38308	2.785000	0.95823	0.591000	0.81541	CTT	EFCAB3-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379315.1		+	ENST00000450662.2	Missense_Mutation	SNP	17 : 60484019 - 60484019 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	56
C20orf194	25943	broad.mit.edu	37	20	3363127	3363127	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3363127C>T	ENST00000252032.9	-	2	177	c.110G>A	c.(109-111)aGc>aAc	p.S37N		NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	37										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						GGTCAGGATGCTCTGAACCTG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	60	59			NA	NA	20		NA											NA				3363127		2029	4185	6214	SO:0001583	missense			AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854	25943	25943			17721	protein-coding gene	gene with protein product		614146			NA		Standard	NM_001009984	NM_001009984	NA	Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.110G>A	20.37:g.3363127C>T	ENSP00000252032:p.Ser37Asn	NA	Q66K86|Q6P2R9|Q9UFX9	37	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.982398	0.53827	.	.	ENSG00000088854	ENST00000252032	T	0.19532	2.14	5.79	3.88	0.44766	.	0.564362	0.20972	N	0.082372	T	0.21267	0.0512	L	0.56769	1.78	0.58432	D	0.999995	B	0.06786	0.001	B	0.06405	0.002	T	0.03576	-1.1023	10	0.72032	D	0.01	.	8.5911	0.33688	0.0:0.7658:0.0:0.2342	.	37	Q5TEA3	CT194_HUMAN	N	37	ENSP00000252032:S37N	ENSP00000252032:S37N	S	-	2	0	C20orf194	3311127	0.977000	0.34250	0.924000	0.36721	0.994000	0.84299	1.387000	0.34430	0.796000	0.33947	0.655000	0.94253	AGC	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077734.1		-	ENST00000252032.9	Missense_Mutation	SNP	20 : 3363127 - 3363127 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	246	28
SCN7A	6332	broad.mit.edu	37	2	167328870	167328870	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167328870C>T	ENST00000409855.1	-	5	655	c.529G>A	c.(529-531)Ggt>Agt	p.G177S		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	177					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CATGGATCACCGAGGAAGGAA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	49	49			NA	NA	2		NA											NA				167328870		1890	4152	6042	SO:0001583	missense			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546	6332	6332		Sodium channels, Voltage-gated ion channels / Sodium channels	10594	protein-coding gene	gene with protein product		182392	sodium channel, voltage-gated, type VI, alpha, sodium channel, voltage-gated, type VII, alpha	SCN6A	NA	10198179	Standard		NM_002976	NA	Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.529G>A	2.37:g.167328870C>T	ENSP00000386796:p.Gly177Ser	NA		37	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112005	0.77210	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.98381	-4.9;-4.9;-4.9	5.37	3.45	0.39498	Ion transport (1);	0.220210	0.32401	N	0.006150	D	0.97025	0.9028	M	0.69823	2.125	0.35514	D	0.800912	D	0.56968	0.978	P	0.47251	0.542	D	0.97354	0.9965	10	0.87932	D	0	.	7.4811	0.27406	0.0:0.5845:0.3221:0.0934	.	177	Q01118	SCN7A_HUMAN	S	177	ENSP00000386796:G177S;ENSP00000413699:G177S;ENSP00000403846:G177S	ENSP00000259060:G177S	G	-	1	0	SCN7A	167037116	0.839000	0.29477	1.000000	0.80357	0.906000	0.53458	1.406000	0.34646	2.675000	0.91044	0.655000	0.94253	GGT	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333745.1		-	ENST00000409855.1	Missense_Mutation	SNP	2 : 167328870 - 167328870 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	87	10
PLEC	5339	broad.mit.edu	37	8	144995573	144995573	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144995573G>T	ENST00000322810.4	-	32	8996	c.8827C>A	c.(8827-8829)Ctg>Atg	p.L2943M	PLEC_ENST00000436759.2_Missense_Mutation_p.L2833M|PLEC_ENST00000527096.1_Missense_Mutation_p.L2829M|PLEC_ENST00000354589.3_Missense_Mutation_p.L2806M|PLEC_ENST00000356346.3_Missense_Mutation_p.L2792M|PLEC_ENST00000345136.3_Missense_Mutation_p.L2806M|PLEC_ENST00000357649.2_Missense_Mutation_p.L2810M|PLEC_ENST00000354958.2_Missense_Mutation_p.L2784M|PLEC_ENST00000398774.2_Missense_Mutation_p.L2774M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2943	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGGGCCTCCAGCAGGCGGATG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	50	48			NA	NA	8		NA											NA				144995573		1991	4149	6140	SO:0001583	missense			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209	5339	5339			9069	protein-coding gene	gene with protein product		601282	plectin 1, intermediate filament binding protein, 500kD, epidermolysis bullosa simplex 1 (Ogna), plectin 1, intermediate filament binding protein 500kDa	EBS1, PLEC1	NA	8633055, 8696340	Standard	NM_000445	XM_005250976	NA	Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8827C>A	8.37:g.144995573G>T	ENSP00000323856:p.Leu2943Met	NA	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.867622	0.32977	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18	4.95	4.07	0.47477	.	0.000000	0.52532	U	0.000073	D	0.96719	0.8929	M	0.86343	2.81	0.49051	D	0.999745	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	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97029	0.9749	10	0.72032	D	0.01	.	13.1119	0.59278	0.0792:0.0:0.9208:0.0	.	2833;2792;2784;2943;2774;2806;2810;2806	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	M	2806;2810;2806;2774;2943;2784;2792;2833;2829	ENSP00000344848:L2806M;ENSP00000350277:L2810M;ENSP00000346602:L2806M;ENSP00000381756:L2774M;ENSP00000323856:L2943M;ENSP00000347044:L2784M;ENSP00000348702:L2792M;ENSP00000388180:L2833M;ENSP00000434583:L2829M	ENSP00000323856:L2943M	L	-	1	2	PLEC	145067561	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.889000	0.56212	1.236000	0.43740	0.456000	0.33151	CTG	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383281.1		-	ENST00000322810.4	Missense_Mutation	SNP	8 : 144995573 - 144995573 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	708	120
AIFM2	84883	broad.mit.edu	37	10	71874688	71874688	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71874688C>T	ENST00000307864.1	-	8	1171	c.958G>A	c.(958-960)Gcc>Acc	p.A320T	AIFM2_ENST00000482166.1_5'UTR|AIFM2_ENST00000373248.1_Missense_Mutation_p.A320T	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	320					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						GGCTTGTAGGCCTGGAGAGGC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	33	34			NA	NA	10		NA											NA				71874688		2203	4300	6503	SO:0001583	missense			AK027403	CCDS7297.1	10q22.2	2006-11-16	2006-11-16	2006-11-16	ENSG00000042286	ENSG00000042286	84883	84883			21411	protein-coding gene	gene with protein product		605159	apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death	AMID	NA	12135761, 11980907, 15958387	Standard	NM_032797	NM_001198696	NA	Approved	FLJ14497, PRG3	uc001jqp.2	Q9BRQ8	OTTHUMG00000018398	ENST00000307864.1:c.958G>A	10.37:g.71874688C>T	ENSP00000312370:p.Ala320Thr	NA	B3KXI0|Q63Z39	37	CCDS7297.1	.	.	.	.	.	.	.	.	.	.	C	3.098	-0.185301	0.06340	.	.	ENSG00000042286	ENST00000373248;ENST00000307864;ENST00000395039	T;T	0.29917	1.55;1.55	5.8	0.082	0.14427	.	0.472269	0.24683	N	0.036442	T	0.06645	0.0170	N	0.00483	-1.445	0.22142	N	0.999334	B	0.02656	0.0	B	0.06405	0.002	T	0.30736	-0.9968	10	0.27082	T	0.32	-3.5514	3.46	0.07529	0.1884:0.3093:0.0:0.5023	.	320	Q9BRQ8	AIFM2_HUMAN	T	320;320;283	ENSP00000362345:A320T;ENSP00000312370:A320T	ENSP00000312370:A320T	A	-	1	0	AIFM2	71544694	0.324000	0.24652	0.992000	0.48379	0.247000	0.25773	-0.048000	0.11944	0.099000	0.17552	0.563000	0.77884	GCC	AIFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048487.1		-	ENST00000307864.1	Missense_Mutation	SNP	10 : 71874688 - 71874688 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	181	36
MPEG1	219972	broad.mit.edu	37	11	58978424	58978424	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58978424G>A	ENST00000361050.3	-	1	2000	c.1915C>T	c.(1915-1917)Cgg>Tgg	p.R639W		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	639						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				ATGGCCCTCCGCAGCTCTATC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG	1,3931		0,1,1965	95	103	100		1915	5.7	0.9	11		100	0,8270		0,0,4135	no	missense	MPEG1	NM_001039396.1	101	0,1,6100	AA,AG,GG	NA	0.0,0.0254,0.0082	probably-damaging	639/717	58978424	1,12201	1966	4135	6101	SO:0001583	missense			AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629	219972	219972			29619	protein-coding gene	gene with protein product	macrophage expressed gene 1	610390			NA	7888681, 23257510	Standard	NM_001039396	NM_001039396	NA	Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.1915C>T	11.37:g.58978424G>A	ENSP00000354335:p.Arg639Trp	NA	Q2M1T6|Q8TEF8	37	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.484135	0.26598	2.54E-4	0.0	ENSG00000197629	ENST00000361050	T	0.24350	1.86	5.69	5.69	0.88448	.	0.466187	0.23481	N	0.047712	T	0.35219	0.0924	M	0.62723	1.935	0.09310	N	1	D	0.76494	0.999	P	0.50490	0.642	T	0.38112	-0.9676	10	0.66056	D	0.02	-13.3692	10.7561	0.46237	0.086:0.0:0.914:0.0	.	639	Q2M385	MPEG1_HUMAN	W	639	ENSP00000354335:R639W	ENSP00000354335:R639W	R	-	1	2	MPEG1	58735000	0.007000	0.16637	0.940000	0.37924	0.049000	0.14656	1.633000	0.37113	2.682000	0.91365	0.655000	0.94253	CGG	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370027.1		-	ENST00000361050.3	Missense_Mutation	SNP	11 : 58978424 - 58978424 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	801	166
GRXCR1	389207	broad.mit.edu	37	4	42895651	42895651	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42895651T>C	ENST00000399770.2	+	1	368	c.368T>C	c.(367-369)tTg>tCg	p.L123S		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	123					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TTTAACAATTTGACCAAAGTA	0.418		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	4		NA											NA				42895651		1925	4126	6051	SO:0001583	missense				CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203	389207	389207			31673	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 88	613283	deafness, autosomal recessive 25	DFNB25	NA	20137778	Standard	NM_001080476	NM_001080476	NA	Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.368T>C	4.37:g.42895651T>C	ENSP00000382670:p.Leu123Ser	NA		37	CCDS43225.1	.	.	.	.	.	.	.	.	.	.	T	16.39	3.111100	0.56398	.	.	ENSG00000215203	ENST00000399770	T	0.21191	2.02	5.87	5.87	0.94306	.	0.000000	0.56097	U	0.000023	T	0.42108	0.1188	L	0.53249	1.67	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.09796	-1.0658	10	0.38643	T	0.18	-9.0137	15.4474	0.75240	0.0:0.0:0.0:1.0	.	123	A8MXD5	GRCR1_HUMAN	S	123	ENSP00000382670:L123S	ENSP00000382670:L123S	L	+	2	0	GRXCR1	42590408	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	7.693000	0.84214	2.247000	0.74100	0.528000	0.53228	TTG	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360576.1		+	ENST00000399770.2	Missense_Mutation	SNP	4 : 42895651 - 42895651 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	769	143
ASIC5	51802	broad.mit.edu	37	4	156759990	156759990	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156759990G>T	ENST00000537611.2	-	7	1087	c.1041C>A	c.(1039-1041)taC>taA	p.Y347*		NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	347						integral to membrane|plasma membrane					NA						CACAGCTGAAGTACTTTTGTA	0.269		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	73	73			NA	NA	4		NA											NA				156759990		2203	4296	6499	SO:0001587	stop_gained			AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394	51802	51802			17537	protein-coding gene	gene with protein product			amiloride-sensitive cation channel 5, intestinal	ACCN5	NA	10767424	Standard		NM_017419	NA	Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.1041C>A	4.37:g.156759990G>T	ENSP00000442477:p.Tyr347*	NA		37	CCDS3793.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.493945	0.44352	.	.	ENSG00000256394	ENST00000537611	.	.	.	3.89	2.85	0.33270	.	0.763256	0.11072	U	0.602743	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.3212	0.15881	0.8159:0.0:0.1841:0.0	.	.	.	.	X	347	.	ENSP00000264432:Y347X	Y	-	3	2	ACCN5	156979440	0.997000	0.39634	0.996000	0.52242	0.011000	0.07611	1.395000	0.34520	0.753000	0.32945	0.305000	0.20034	TAC	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366464.1		-	ENST00000537611.2	Nonsense_Mutation	SNP	4 : 156759990 - 156759990 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	100	17
AGA	175	broad.mit.edu	37	4	178358577	178358577	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:178358577G>A	ENST00000264595.2	-	5	731	c.604C>T	c.(604-606)Cgt>Tgt	p.R202C	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	202					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		TCATGACCACGATCATCTTCT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	128	130			NA	NA	4		NA											NA				178358577		2203	4300	6503	SO:0001583	missense			X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	175	175	3.5.1.26		318	protein-coding gene	gene with protein product	glycosylasparaginase, N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase	613228			NA		Standard	NM_000027	NM_000027	NA	Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.604C>T	4.37:g.178358577G>A	ENSP00000264595:p.Arg202Cys	NA	B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	37	CCDS3829.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560688	0.27827	.	.	ENSG00000038002	ENST00000264595;ENST00000502310	D;D	0.88277	-2.36;-1.92	5.53	-2.69	0.06022	.	0.903450	0.09711	N	0.765684	D	0.87962	0.6310	M	0.74647	2.275	0.09310	N	1	B	0.17465	0.022	B	0.18561	0.022	T	0.76594	-0.2902	10	0.42905	T	0.14	-21.2794	16.0354	0.80625	0.1574:0.0:0.8426:0.0	.	202	P20933	ASPG_HUMAN	C	202;87	ENSP00000264595:R202C;ENSP00000423798:R87C	ENSP00000264595:R202C	R	-	1	0	AGA	178595571	0.002000	0.14202	0.000000	0.03702	0.018000	0.09664	1.352000	0.34033	-0.276000	0.09206	0.655000	0.94253	CGT	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361916.1		-	ENST00000264595.2	Missense_Mutation	SNP	4 : 178358577 - 178358577 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	35
APP	351	broad.mit.edu	37	21	27394204	27394204	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27394204C>T	ENST00000357903.3	-	6	983	c.817G>A	c.(817-819)Gcc>Acc	p.A273T	APP_ENST00000358918.3_Missense_Mutation_p.A273T|APP_ENST00000474136.1_5'UTR|APP_ENST00000448388.2_Missense_Mutation_p.A238T|APP_ENST00000348990.5_Missense_Mutation_p.A273T|APP_ENST00000359726.3_Missense_Mutation_p.A273T|APP_ENST00000439274.2_Missense_Mutation_p.A217T|APP_ENST00000440126.3_Missense_Mutation_p.A268T|APP_ENST00000354192.3_Missense_Mutation_p.A217T|APP_ENST00000346798.3_Missense_Mutation_p.A273T	NM_201413.2	NP_958816.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	273					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				gtggtggtggcaatgctggtg	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													230	156	181			NA	NA	21		NA											NA				27394204		2203	4300	6503	SO:0001583	missense			M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192	351	351		Endogenous ligands	620	protein-coding gene	gene with protein product	peptidase nexin-II	104760	Alzheimer disease	AD1	NA	1679289	Standard	NM_000484	NM_001136130	NA	Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000357903.3:c.817G>A	21.37:g.27394204C>T	ENSP00000350578:p.Ala273Thr	NA	B2R5V1|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	37	CCDS33523.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.12|15.12	2.740328|2.740328	0.49045|0.49045	.|.	.|.	ENSG00000142192|ENSG00000142192	ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274|ENST00000448850;ENST00000415997	T;D;D;T;T;D;D;T;T|.	0.96300|.	1.89;-3.95;-3.95;1.89;1.89;-3.97;-3.95;1.89;1.89|.	3.62|3.62	3.62|3.62	0.41486|0.41486	.|.	0.304797|.	0.34411|.	N|.	0.003993|.	T|T	0.39118|0.39118	0.1066|0.1066	N|N	0.14661|0.14661	0.345|0.345	0.35957|0.35957	D|D	0.834349|0.834349	D;P;P;P;P;P;P;P|.	0.67145|.	0.996;0.805;0.805;0.805;0.877;0.877;0.877;0.805|.	D;P;P;P;P;P;P;P|.	0.73708|.	0.981;0.483;0.483;0.483;0.682;0.682;0.682;0.483|.	T|T	0.43212|0.43212	-0.9405|-0.9405	10|5	0.30854|.	T|.	0.27|.	-13.2249|-13.2249	11.092|11.092	0.48121|0.48121	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	273;238;217;268;217;273;273;273|.	P05067-2;E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067|.	.;.;.;.;.;.;.;A4_HUMAN|.	T|Y	273;217;273;273;273;273;238;268;217|194;63	ENSP00000284981:A273T;ENSP00000346129:A217T;ENSP00000345463:A273T;ENSP00000350578:A273T;ENSP00000351796:A273T;ENSP00000352760:A273T;ENSP00000388538:A238T;ENSP00000387483:A268T;ENSP00000398879:A217T|.	ENSP00000284981:A273T|.	A|C	-|-	1|2	0|0	APP|APP	26316075|26316075	0.979000|0.979000	0.34478|0.34478	0.994000|0.994000	0.49952|0.49952	0.975000|0.975000	0.68041|0.68041	3.226000|3.226000	0.51254|0.51254	2.319000|2.319000	0.78375|0.78375	0.563000|0.563000	0.77884|0.77884	GCC|TGC	APP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000171337.2		-	ENST00000357903.3	Missense_Mutation	SNP	21 : 27394204 - 27394204 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	166	25
WNT5B	81029	broad.mit.edu	37	12	1741887	1741887	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1741887C>T	ENST00000542408.1	+	2	184	c.144C>T	c.(142-144)tgC>tgT	p.C48C	WNT5B_ENST00000537031.1_Silent_p.C48C|WNT5B_ENST00000310594.3_Silent_p.C48C|WNT5B_ENST00000397196.2_Silent_p.C48C			Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	48					angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			AGCCCGTGTGCAGTCAGCTTC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	104	102			NA	NA	12		NA											NA				1741887		2203	4300	6503	SO:0001819	synonymous_variant			AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186	81029	81029		Wingless-type MMTV integration sites	16265	protein-coding gene	gene with protein product		606361			NA	11445850	Standard		NM_030775	NA	Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000542408.1:c.144C>T	12.37:g.1741887C>T		NA	A8K315|D3DUP9|Q96S49|Q9BV04	37																																																																																				WNT5B-009	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000397943.1		+	ENST00000542408.1	Silent	SNP	12 : 1741887 - 1741887 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	925	126
FREM2	341640	broad.mit.edu	37	13	39264040	39264040	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39264040C>T	ENST00000280481.7	+	1	2775	c.2559C>T	c.(2557-2559)caC>caT	p.H853H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	853					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CAGAGTTGCACGTGAATGATG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	107	110			NA	NA	13		NA											NA				39264040		2203	4300	6503	SO:0001819	synonymous_variant			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893	341640	341640			25396	protein-coding gene	gene with protein product		608945			NA	15345741	Standard	NM_207361	NM_207361	NA	Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2559C>T	13.37:g.39264040C>T		NA	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	37	CCDS31960.1																																																																																			FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044599.2		+	ENST00000280481.7	Silent	SNP	13 : 39264040 - 39264040 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	53
HOXB3	3213	broad.mit.edu	37	17	46628302	46628302	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46628302C>T	ENST00000489475.1	-	5	1172	c.471G>A	c.(469-471)cgG>cgA	p.R157R	HOXB3_ENST00000490677.1_Silent_p.R96R|HOXB3_ENST00000460160.1_Silent_p.R98R|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000311626.4_Silent_p.R230R|HOXB3_ENST00000476342.1_Silent_p.R230R|HOXB3_ENST00000470495.1_Silent_p.R230R|HOXB3_ENST00000498678.1_Silent_p.R230R|HOXB3_ENST00000472863.1_Silent_p.R157R|HOXB3_ENST00000485909.2_Silent_p.R98R|HOXB-AS3_ENST00000465846.2_RNA			P14651	HXB3_HUMAN	homeobox B3	230	Gly-rich.				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						TCTTGATCTGCCGCTCGCTGA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	103	102			NA	NA	17		NA											NA				46628302		2203	4300	6503	SO:0001819	synonymous_variant				CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093	3213	3213		Homeoboxes / ANTP class : HOXL subclass	5114	protein-coding gene	gene with protein product		142966	homeo box B3	HOX2, HOX2G	NA	1973146, 1358459	Standard		XM_006721854	NA	Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000489475.1:c.471G>A	17.37:g.46628302C>T		NA	A8K567|D3DTV3|O95615|P17484	37																																																																																				HOXB3-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000358265.1		-	ENST00000489475.1	Silent	SNP	17 : 46628302 - 46628302 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	967	165
RABGAP1L	9910	broad.mit.edu	37	1	174363157	174363157	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:174363157G>A	ENST00000251507.4	+	13	1758	c.1584G>A	c.(1582-1584)ccG>ccA	p.P528P	RABGAP1L_ENST00000357444.6_Silent_p.P491P|RABGAP1L_ENST00000367689.3_Silent_p.P175P	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	528					regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GTGCACGACCGAAAGGGCTGT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001819	synonymous_variant			AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061	9910	9910			24663	protein-coding gene	gene with protein product		609238			NA	10585558	Standard	NM_001243765	NM_014857	NA	Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.1584G>A	1.37:g.174363157G>A		NA	O75059|Q3ZTR8|Q5R369|Q8IVV0|Q8N921|Q8WV78|Q9NSP8|Q9UQ19|Q9UQP5|Q9Y6Y5|Q9Y6Y6	37	CCDS1314.1																																																																																			RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084497.1		+	ENST00000251507.4	Silent	SNP	1 : 174363157 - 174363157 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	684	53
OR13C9	286362	broad.mit.edu	37	9	107379988	107379988	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107379988C>T	ENST00000259362.1	-	1	497	c.498G>A	c.(496-498)ttG>ttA	p.L166L		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TGCAGAAAGGCAATTGTACTA	0.443		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	9		NA											NA				107379988		2203	4300	6503	SO:0001819	synonymous_variant				CCDS35093.1	9q31.1	2013-09-24			ENSG00000136839	ENSG00000136839	286362	286362		GPCR / Class A : Olfactory receptors	15104	protein-coding gene	gene with protein product					NA		Standard		NM_001001956	NA	Approved		uc011lvr.2	Q8NGT0	OTTHUMG00000020416	ENST00000259362.1:c.498G>A	9.37:g.107379988C>T		NA	Q6IFL2	37	CCDS35093.1																																																																																			OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053490.1		-	ENST00000259362.1	Silent	SNP	9 : 107379988 - 107379988 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	468	62
MECOM	2122	broad.mit.edu	37	3	168834009	168834009	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:168834009C>T	ENST00000464456.1	-	7	2287	c.1087G>A	c.(1087-1089)Gta>Ata	p.V363I	MECOM_ENST00000264674.3_Missense_Mutation_p.V428I|MECOM_ENST00000433243.2_Missense_Mutation_p.V364I|MECOM_ENST00000472280.1_Missense_Mutation_p.V364I|MECOM_ENST00000460814.1_Missense_Mutation_p.V363I|MECOM_ENST00000392736.3_Missense_Mutation_p.V363I|MECOM_ENST00000494292.1_Missense_Mutation_p.V551I|MECOM_ENST00000468789.1_Missense_Mutation_p.V363I	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTGTCCCCTACAGATGGGTGT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													418	351	373			NA	NA	3		NA											NA				168834009		2203	4300	6503	SO:0001583	missense			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276	2122	2122		Zinc fingers, C2H2-type	3498	protein-coding gene	gene with protein product		165215	myelodysplasia syndrome 1, ecotropic viral integration site 1	MDS1, EVI1	NA	2115646, 8171026, 8643684	Standard	NM_005241, NM_004991	NM_001105077	NA	Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.1087G>A	3.37:g.168834009C>T	ENSP00000419770:p.Val363Ile	NA	Q13466|Q6FH90	37	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	8.444	0.851529	0.17034	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.05382	3.5;3.5;3.46;3.6;3.45;3.5;3.45;3.6	6.03	5.15	0.70609	.	0.000000	0.44688	D	0.000431	T	0.05960	0.0155	L	0.34521	1.04	0.29860	N	0.827733	B;B;B;B;B	0.13594	0.008;0.002;0.005;0.004;0.0	B;B;B;B;B	0.12156	0.007;0.007;0.003;0.005;0.001	T	0.10337	-1.0634	10	0.37606	T	0.19	-6.5751	9.695	0.40152	0.0:0.7931:0.0:0.2069	.	551;364;551;428;363	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	I	428;363;363;364;551;363;363;364	ENSP00000264674:V428I;ENSP00000376493:V363I;ENSP00000419770:V363I;ENSP00000420048:V364I;ENSP00000417899:V551I;ENSP00000419995:V363I;ENSP00000420466:V363I;ENSP00000394302:V364I	ENSP00000264674:V428I	V	-	1	0	MECOM	170316703	0.995000	0.38212	1.000000	0.80357	0.904000	0.53231	1.131000	0.31406	1.558000	0.49541	0.655000	0.94253	GTA	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351519.1		-	ENST00000464456.1	Missense_Mutation	SNP	3 : 168834009 - 168834009 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	484	97
HDAC4	9759	broad.mit.edu	37	2	240033255	240033255	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240033255G>A	ENST00000345617.3	-	14	2721	c.1930C>T	c.(1930-1932)Cag>Tag	p.Q644*	HDAC4_ENST00000541256.1_Nonsense_Mutation_p.Q618*|HDAC4_ENST00000543185.1_Nonsense_Mutation_p.Q228*	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	644					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GGGGGCTCCTGCACAGACACG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	23	24			NA	NA	2		NA											NA				240033255		2199	4300	6499	SO:0001587	stop_gained			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024	9759	9759			14063	protein-coding gene	gene with protein product		605314	brachydactyly-mental retardation syndrome	BDMR	NA	10206986, 10220385, 20691407	Standard	NM_006037	NM_006037	NA	Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.1930C>T	2.37:g.240033255G>A	ENSP00000264606:p.Gln644*	NA	Q9UND6	37	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	G	39	7.730069	0.98456	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185;ENST00000541256;ENST00000393621	.	.	.	4.15	4.15	0.48705	.	0.567018	0.18426	N	0.141592	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	16.8141	0.85729	0.0:0.0:1.0:0.0	.	.	.	.	X	644;532;228;618;527	.	ENSP00000264606:Q644X	Q	-	1	0	HDAC4	239698192	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	8.974000	0.93433	2.038000	0.60285	0.591000	0.81541	CAG	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257174.2		-	ENST00000345617.3	Nonsense_Mutation	SNP	2 : 240033255 - 240033255 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	132	9
SPSB4	92369	broad.mit.edu	37	3	140785571	140785571	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:140785571C>T	ENST00000310546.2	+	2	1369	c.625C>T	c.(625-627)Ctg>Ttg	p.L209L		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	209	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GGGCAAGAAGCTGTACCCGGT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	66	67			NA	NA	3		NA											NA				140785571		2203	4300	6503	SO:0001819	synonymous_variant				CCDS3115.1	3q23	2008-02-05			ENSG00000175093	ENSG00000175093	92369	92369			30630	protein-coding gene	gene with protein product		611660			NA	12076535	Standard	NM_080862	NM_080862	NA	Approved	SSB-4	uc003ett.3	Q96A44	OTTHUMG00000160223	ENST00000310546.2:c.625C>T	3.37:g.140785571C>T		NA		37	CCDS3115.1																																																																																			SPSB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359727.1		+	ENST00000310546.2	Silent	SNP	3 : 140785571 - 140785571 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	16
FCER1A	2205	broad.mit.edu	37	1	159277659	159277659	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159277659G>A	ENST00000368115.1	+	6	810	c.711G>A	c.(709-711)aaG>aaA	p.K237K	FCER1A_ENST00000368114.1_Silent_p.K204K	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	237						integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TGAAGATTAAGAGAACCAGGA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	94	95			NA	NA	1		NA											NA				159277659		2203	4300	6503	SO:0001819	synonymous_variant			BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639	2205	2205		Immunoglobulin superfamily / Immunoglobulin-like domain containing	3609	protein-coding gene	gene with protein product		147140		FCE1A	NA	8245459	Standard	NM_002001	NM_002001	NA	Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.711G>A	1.37:g.159277659G>A		NA		37	CCDS1184.1																																																																																			FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090328.2		+	ENST00000368115.1	Silent	SNP	1 : 159277659 - 159277659 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	382	75
POLR1B	84172	broad.mit.edu	37	2	113315647	113315647	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113315647G>A	ENST00000417433.2	+	7	1181	c.1151G>A	c.(1150-1152)cGt>cAt	p.R384H	POLR1B_ENST00000263331.5_Missense_Mutation_p.R440H|POLR1B_ENST00000537335.1_Missense_Mutation_p.R229H|POLR1B_ENST00000498054.1_3'UTR|POLR1B_ENST00000409894.3_Intron|POLR1B_ENST00000541869.1_Missense_Mutation_p.R478H	NM_001137604.1	NP_001131076.1	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	440					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GGGAATCTGCGTTCTAAAACA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(16;256 576 9537 23969 41147)							NA				0								G	HIS/ARG,HIS/ARG	0,4404		0,0,2202	78	80	79		1151,1319	6	1	2		79	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	POLR1B	NM_001137604.1,NM_019014.4	29,29	0,1,6501	AA,AG,GG	NA	0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	384/1080,440/1136	113315647	1,13003	2202	4300	6502	SO:0001583	missense			AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630	84172	84172		RNA polymerase subunits	20454	protein-coding gene	gene with protein product		602000			NA		Standard	NM_019014	NM_001137604	NA	Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000417433.2:c.1151G>A	2.37:g.113315647G>A	ENSP00000405358:p.Arg384His	NA	Q585T5|Q6ZRR2|Q9H9D3	37	CCDS46395.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937416	0.73557	0.0	1.16E-4	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000537335;ENST00000417433	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	6.04	6.04	0.98038	.	0.264671	0.44688	D	0.000436	D	0.82370	0.5022	L	0.61387	1.9	0.44702	D	0.997695	D;P;D	0.57899	0.981;0.561;0.968	P;B;B	0.50617	0.646;0.052;0.365	T	0.81236	-0.1024	10	0.42905	T	0.14	-19.4875	19.3507	0.94384	0.0:0.0:1.0:0.0	.	478;384;440	F5GZX4;Q9H9Y6-2;Q9H9Y6	.;.;RPA2_HUMAN	H	440;478;229;384	ENSP00000263331:R440H;ENSP00000444136:R478H;ENSP00000437914:R229H;ENSP00000405358:R384H	ENSP00000263331:R440H	R	+	2	0	POLR1B	113032118	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.406000	0.59748	2.873000	0.98535	0.561000	0.74099	CGT	POLR1B-005	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330626.1		+	ENST00000417433.2	Missense_Mutation	SNP	2 : 113315647 - 113315647 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	258	27
C1QTNF6	114904	broad.mit.edu	37	22	37578258	37578258	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37578258G>A	ENST00000337843.2	-	3	882	c.807C>T	c.(805-807)agC>agT	p.S269S	C1QTNF6_ENST00000470655.1_5'UTR|C1QTNF6_ENST00000397110.2_Silent_p.S269S|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000255836.6_Silent_p.S145S	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	250						collagen		p.S269S(1)		breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						TGAGGTGGCCGCTGAAGGTGA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											65	60	62			NA	NA	22		NA											NA				37578258		2203	4300	6503	SO:0001819	synonymous_variant			AF329842	CCDS13943.1	22q13.1	2014-02-21			ENSG00000133466	ENSG00000133466	114904	114904			14343	protein-coding gene	gene with protein product		614910			NA	12975309	Standard	NM_182486	NM_031910	NA	Approved	CTRP6, ZACRP6	uc003aqy.1	Q9BXI9	OTTHUMG00000150538	ENST00000337843.2:c.807C>T	22.37:g.37578258G>A		NA	Q5H9G8|Q6ZRM7	37	CCDS13943.1																																																																																			C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318807.1		-	ENST00000337843.2	Silent	SNP	22 : 37578258 - 37578258 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	228	46
SLC3A1	6519	broad.mit.edu	37	2	44508543	44508543	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44508543G>A	ENST00000409387.1	+	3	700	c.628G>A	c.(628-630)Gat>Aat	p.D210N	SLC3A1_ENST00000409229.3_Missense_Mutation_p.D210N|SLC3A1_ENST00000410056.3_Missense_Mutation_p.D210N|SLC3A1_ENST00000260649.6_Missense_Mutation_p.D210N|SLC3A1_ENST00000409741.1_Missense_Mutation_p.D210N			Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	210					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	ATTAATCATCGATTTCATACC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	75	76			NA	NA	2		NA											NA				44508543		2203	4300	6503	SO:0001583	missense				CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079	6519	6519		Solute carriers	11025	protein-coding gene	gene with protein product		104614	solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1		NA	8486766, 9186880	Standard	NM_000341	NM_000341	NA	Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000409387.1:c.628G>A	2.37:g.44508543G>A	ENSP00000387308:p.Asp210Asn	NA	A8K0S1|O00658|Q15295|Q52M92|Q52M94	37		.	.	.	.	.	.	.	.	.	.	G	19.87	3.907315	0.72868	.	.	ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000540334;ENST00000410056;ENST00000409741;ENST00000409229;ENST00000541289	D;D;D;D;D	0.99960	-9.19;-9.19;-7.36;-9.19;-9.19	4.19	4.19	0.49359	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.054621	0.64402	N	0.000001	D	0.99971	0.9990	H	0.98701	4.305	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;0.998	D	0.96864	0.9634	10	0.62326	D	0.03	-12.8222	17.147	0.86768	0.0:0.0:1.0:0.0	.	210;210;210;210;210	Q07837;B8ZZK1;Q4J6B5;Q4J6B6;Q4J6B8	SLC31_HUMAN;.;.;.;.	N	210;210;146;210;210;210;210	ENSP00000260649:D210N;ENSP00000387308:D210N;ENSP00000387337:D210N;ENSP00000386954:D210N;ENSP00000386620:D210N	ENSP00000260649:D210N	D	+	1	0	SLC3A1	44362047	1.000000	0.71417	0.952000	0.39060	0.467000	0.32768	9.024000	0.93689	2.323000	0.78572	0.551000	0.68910	GAT	SLC3A1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000327835.1		+	ENST00000409387.1	Missense_Mutation	SNP	2 : 44508543 - 44508543 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	354	76
GSPT1	2935	broad.mit.edu	37	16	11967016	11967016	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11967016G>A	ENST00000434724.2	-	15	2073	c.1874C>T	c.(1873-1875)gCa>gTa	p.A625V	RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000439887.2_Missense_Mutation_p.A624V|GSPT1_ENST00000420576.2_Missense_Mutation_p.A487V|GSPT1_ENST00000563468.1_Missense_Mutation_p.A487V	NM_001130006.1|NM_002094.3	NP_001123478.1|NP_002085	P15170	ERF3A_HUMAN	G1 to S phase transition 1	487					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						TTTTCCAATTGCAATGGTCTT	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	140	140			NA	NA	16		NA											NA				11967016		1873	4112	5985	SO:0001583	missense			BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01					2935	2935			4621	protein-coding gene	gene with protein product		139259			NA	2511002, 17700517	Standard	NM_002094	NM_002094	NA	Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000434724.2:c.1874C>T	16.37:g.11967016G>A	ENSP00000398131:p.Ala625Val	NA		37	CCDS45412.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450010	0.84101	.	.	ENSG00000103342	ENST00000434724;ENST00000439887;ENST00000420576	T;T;T	0.59906	0.54;0.55;0.23	5.54	5.54	0.83059	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.000000	0.85682	U	0.000000	D	0.83487	0.5265	H	0.96547	3.84	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.68039	0.955;0.955;0.935	D	0.88726	0.3233	10	0.87932	D	0	-19.6359	18.0661	0.89391	0.0:0.0:1.0:0.0	.	624;621;487	E7EQZ3;Q96GF2;P15170	.;.;ERF3A_HUMAN	V	625;624;487	ENSP00000398131:A625V;ENSP00000408399:A624V;ENSP00000399539:A487V	ENSP00000399539:A487V	A	-	2	0	GSPT1	11874517	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.400000	0.97290	2.605000	0.88082	0.591000	0.81541	GCA	GSPT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421510.1		-	ENST00000434724.2	Missense_Mutation	SNP	16 : 11967016 - 11967016 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	656	101
POLR2E	5434	broad.mit.edu	37	19	1089931	1089931	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1089931G>A	ENST00000215587.7	-	6	802	c.519C>T	c.(517-519)atC>atT	p.I173I	POLR2E_ENST00000585838.1_5'UTR|POLR2E_ENST00000586746.1_Silent_p.I173I			P19388	RPAB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide E, 25kDa	173					interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCCGCCTGGATCCTGGGCA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	30	28			NA	NA	19		NA											NA				1089931		2203	4299	6502	SO:0001819	synonymous_variant				CCDS12056.1	19p13.3	2013-01-21	2002-08-29			ENSG00000099817	5434	5434		RNA polymerase subunits	9192	protein-coding gene	gene with protein product	DNA directed RNA polymerase II 23 kda polypeptide	180664	polymerase (RNA) II (DNA directed) polypeptide E (25kD)		NA	8034326	Standard	NM_002695	NM_002695	NA	Approved	RPB5, RPABC1, XAP4, hRPB25, hsRPB5	uc002lre.4	P19388		ENST00000215587.7:c.519C>T	19.37:g.1089931G>A		NA	B2R6L4|D6W5Y1|O43380|Q6PIH5|Q9BT06	37	CCDS12056.1																																																																																			POLR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458044.1		-	ENST00000215587.7	Silent	SNP	19 : 1089931 - 1089931 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	247	37
GON4L	54856	broad.mit.edu	37	1	155783530	155783530	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155783530C>T	ENST00000437809.1	-	10	1469	c.1347G>A	c.(1345-1347)ccG>ccA	p.P449P	GON4L_ENST00000368331.1_Silent_p.P449P|GON4L_ENST00000361040.5_Silent_p.P449P|GON4L_ENST00000271883.5_Silent_p.P449P|GON4L_ENST00000471341.1_5'UTR	NM_001282856.1	NP_001269785.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	449	Poly-Pro.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTGGAGGGGGCGGGGGCCCCA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	1,4405	2.1+/-5.4	0,1,2202	66	62	64		1347,1347	-8.9	0.2	1		64	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GON4L	NM_001037533.1,NM_032292.4	,	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	,	449/2241,449/1530	155783530	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580	54856	54856			25973	protein-coding gene	gene with protein product		610393	gon-4 homolog (C.elegans)	GON4	NA	16545939, 21454521	Standard	NM_032292	XM_005245283	NA	Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000437809.1:c.1347G>A	1.37:g.155783530C>T		NA	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	37	CCDS44242.1																																																																																			GON4L-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340937.1		-	ENST00000437809.1	Silent	SNP	1 : 155783530 - 155783530 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	346	88
SENP7	57337	broad.mit.edu	37	3	101090890	101090890	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101090890T>G	ENST00000394095.2	-	7	811	c.758A>C	c.(757-759)gAt>gCt	p.D253A	SENP7_ENST00000314261.7_Missense_Mutation_p.D187A|SENP7_ENST00000394094.2_Missense_Mutation_p.D188A|SENP7_ENST00000394091.1_Missense_Mutation_p.D89A|SENP7_ENST00000358203.3_Missense_Mutation_p.D89A|SENP7_ENST00000348610.3_Missense_Mutation_p.D220A	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	253					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGAAATGCCATCATCCTTTCT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	105	106			NA	NA	3		NA											NA				101090890		2203	4300	6503	SO:0001583	missense				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468	57337	57337			30402	protein-coding gene	gene with protein product		612846	SUMO1/sentrin specific protease 7		NA	11214970, 11230166	Standard	NM_020654	NM_001282802	NA	Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.758A>C	3.37:g.101090890T>G	ENSP00000377655:p.Asp253Ala	NA	A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	37	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	T	7.814	0.716243	0.15306	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.20598	2.06;2.08;2.09;2.07;2.07;2.07	5.1	1.29	0.21616	.	0.413140	0.20689	N	0.087483	T	0.16685	0.0401	L	0.56769	1.78	0.09310	N	1	P;B;B;B	0.42296	0.775;0.4;0.4;0.068	B;B;B;B	0.39660	0.306;0.173;0.124;0.009	T	0.12268	-1.0554	10	0.27082	T	0.32	-3.139	4.088	0.09957	0.0:0.1866:0.1797:0.6336	.	89;187;220;253	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	A	253;188;187;89;89;220	ENSP00000377655:D253A;ENSP00000377654:D188A;ENSP00000313624:D187A;ENSP00000377651:D89A;ENSP00000350936:D89A;ENSP00000342159:D220A	ENSP00000313624:D187A	D	-	2	0	SENP7	102573580	0.005000	0.15991	0.035000	0.18076	0.016000	0.09150	-0.050000	0.11904	0.044000	0.15775	0.477000	0.44152	GAT	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313957.2		-	ENST00000394095.2	Missense_Mutation	SNP	3 : 101090890 - 101090890 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	344	54
MYO1D	4642	broad.mit.edu	37	17	31082531	31082531	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:31082531G>A	ENST00000394649.4	-	13	1725	c.1182C>T	c.(1180-1182)caC>caT	p.H394H	MYO1D_ENST00000579584.1_Silent_p.H482H|MYO1D_ENST00000318217.5_Silent_p.H482H|MYO1D_ENST00000584232.1_5'UTR			O94832	MYO1D_HUMAN	myosin ID	482	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			AAAAATGGGCGTGTTTGCCCA	0.393		NA											G	3	0.0014	NA	NA	2184	0.01	1	,	,	NA	3e-04	NA	NA	NA	0.0014	1	LOWCOV,EXOME	NA	NA	0.0021	SNP								NA				0													126	113	117			NA	NA	17		NA											NA				31082531		2203	4300	6503	SO:0001819	synonymous_variant			AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658	4642	4642		Myosins / Myosin superfamily : Class I	7598	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 108	606539			NA	8884266	Standard		NM_015194	NA	Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000394649.4:c.1182C>T	17.37:g.31082531G>A		NA	A6H8V3|Q8NHP9	37																																																																																				MYO1D-004	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000447459.2		-	ENST00000394649.4	Silent	SNP	17 : 31082531 - 31082531 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	418	67
ALPK1	80216	broad.mit.edu	37	4	113352781	113352781	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113352781G>A	ENST00000458497.1	+	11	2357	c.2078G>A	c.(2077-2079)gGa>gAa	p.G693E	ALPK1_ENST00000504176.2_Missense_Mutation_p.G615E|ALPK1_ENST00000177648.9_Missense_Mutation_p.G693E	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	693							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CTTCTAGAAGGAGCTCCAGAA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	54	53			NA	NA	4		NA											NA				113352781		2203	4300	6503	SO:0001583	missense			AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331	80216	80216			20917	protein-coding gene	gene with protein product	lymphocyte alpha-kinase	607347			NA	10021370, 10819331	Standard	NM_025144	NM_025144	NA	Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.2078G>A	4.37:g.113352781G>A	ENSP00000398048:p.Gly693Glu	NA	Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	37	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792700	0.31685	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.02579	4.32;4.32;4.24	4.65	-0.601	0.11638	.	1.614930	0.03874	N	0.276041	T	0.03871	0.0109	L	0.54323	1.7	0.09310	N	1	B;B;B	0.24882	0.033;0.113;0.02	B;B;B	0.27170	0.067;0.077;0.018	T	0.47471	-0.9115	10	0.20046	T	0.44	0.031	4.372	0.11253	0.345:0.0:0.5098:0.1452	.	615;615;693	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	E	693;693;615	ENSP00000398048:G693E;ENSP00000177648:G693E;ENSP00000426044:G615E	ENSP00000177648:G693E	G	+	2	0	ALPK1	113572230	0.000000	0.05858	0.001000	0.08648	0.380000	0.30137	-0.067000	0.11579	-0.212000	0.10109	0.655000	0.94253	GGA	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256421.2		+	ENST00000458497.1	Missense_Mutation	SNP	4 : 113352781 - 113352781 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	54
FGFR4	2264	broad.mit.edu	37	5	176518013	176518013	+	Missense_Mutation	SNP	C	C	T	rs139464025		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176518013C>T	ENST00000292408.4	+	5	756	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	FGFR4_ENST00000502906.1_Missense_Mutation_p.R171C|FGFR4_ENST00000393648.2_Missense_Mutation_p.R171C|FGFR4_ENST00000393637.1_Missense_Mutation_p.R171C|FGFR4_ENST00000292410.3_Missense_Mutation_p.R171C	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	171	Ig-like C2-type 2.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	CGTCAAGTTCCGCTGTCCAGC	0.612		NA								TSP Lung(9;0.080)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	91	73	79		511,511,511	4.7	1	5	dbSNP_134	79	0,8600		0,0,4300	no	missense,missense,missense	FGFR4	NM_002011.3,NM_022963.2,NM_213647.1	180,180,180	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	171/803,171/763,171/803	176518013	1,13005	2203	4300	6503	SO:0001583	missense			AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867	2264	2264		CD molecules, Immunoglobulin superfamily / I-set domain containing	3691	protein-coding gene	gene with protein product		134935			NA		Standard		XM_005265837	NA	Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.511C>T	5.37:g.176518013C>T	ENSP00000292408:p.Arg171Cys	NA	O43785|Q14309|Q71TW8|Q8TDA0	37	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632707	0.87660	2.27E-4	0.0	ENSG00000160867	ENST00000292408;ENST00000503708;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207	T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	4.74	4.74	0.60224	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83202	0.5203	M	0.82193	2.58	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.997;0.999	D	0.85843	0.1399	10	0.66056	D	0.02	.	17.5207	0.87786	0.0:1.0:0.0:0.0	.	171;171;171;171	B5A965;B4DVP5;P22455-2;P22455	.;.;.;FGFR4_HUMAN	C	171;171;171;171;171;171;283	ENSP00000292408:R171C;ENSP00000424905:R171C;ENSP00000377259:R171C;ENSP00000424960:R171C;ENSP00000292410:R171C;ENSP00000377254:R171C	ENSP00000292408:R171C	R	+	1	0	FGFR4	176450619	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	3.179000	0.50887	2.470000	0.83445	0.561000	0.74099	CGC	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253410.1		+	ENST00000292408.4	Missense_Mutation	SNP	5 : 176518013 - 176518013 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	239	76
SLC2A13	114134	broad.mit.edu	37	12	40223918	40223918	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40223918C>A	ENST00000280871.4	-	7	1482	c.1432G>T	c.(1432-1434)Gca>Tca	p.A478S		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	478						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				CCCCAGGCTGCCTCATTTGTA	0.378		NA								HNSCC(50;0.14)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	98	100			NA	NA	12		NA											NA				40223918		2203	4300	6503	SO:0001583	missense			AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229	114134	114134		Solute carriers	15956	protein-coding gene	gene with protein product	H(+)-myo-inositol symporter	611036			NA	11500374	Standard		NM_052885	NA	Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.1432G>T	12.37:g.40223918C>A	ENSP00000280871:p.Ala478Ser	NA	Q17S07	37	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	C	10.72	1.430936	0.25726	.	.	ENSG00000151229	ENST00000280871	T	0.81415	-1.49	5.72	5.72	0.89469	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.111670	0.64402	N	0.000010	T	0.71417	0.3337	L	0.38175	1.15	0.80722	D	1	B	0.19935	0.04	B	0.18871	0.023	T	0.66380	-0.5938	10	0.02654	T	1	-16.0386	18.6262	0.91340	0.0:1.0:0.0:0.0	.	478	Q96QE2	MYCT_HUMAN	S	478	ENSP00000280871:A478S	ENSP00000280871:A478S	A	-	1	0	SLC2A13	38510185	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	6.220000	0.72237	2.702000	0.92279	0.591000	0.81541	GCA	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132849.2		-	ENST00000280871.4	Missense_Mutation	SNP	12 : 40223918 - 40223918 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	216	50
ANKFN1	162282	broad.mit.edu	37	17	54520268	54520268	+	Missense_Mutation	SNP	C	C	T	rs145617071		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54520268C>T	ENST00000566473.2	+	9	1082	c.1082C>T	c.(1081-1083)aCg>aTg	p.T361M	ANKFN1_ENST00000318698.2_Missense_Mutation_p.T361M			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	361	Fibronectin type-III.							p.T361M(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GCTCAGACCACGACACCGGCA	0.483		NA											C	2	9e-04	NA	0.0028	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	9e-04	1	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				1	Substitution - Missense(1)	endometrium(1)						C	MET/THR	0,4406		0,0,2203	122	110	114		1082	5.7	1	17	dbSNP_134	114	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ANKFN1	NM_153228.2	81	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	possibly-damaging	361/764	54520268	1,13005	2203	4300	6503	SO:0001583	missense			AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930	162282	162282		Ankyrin repeat domain containing, Fibronectin type III domain containing	26766	protein-coding gene	gene with protein product					NA		Standard	NM_153228	NM_153228	NA	Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000566473.2:c.1082C>T	17.37:g.54520268C>T	ENSP00000454224:p.Thr361Met	NA		37		2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	22.2	4.262435	0.80358	0.0	1.16E-4	ENSG00000153930	ENST00000318698	T	0.33865	1.39	5.72	5.72	0.89469	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.200345	0.53938	D	0.000052	T	0.36853	0.0982	L	0.43923	1.385	0.47094	D	0.999319	D	0.58268	0.982	B	0.42062	0.374	T	0.27773	-1.0064	10	0.66056	D	0.02	-10.2902	19.8804	0.96895	0.0:1.0:0.0:0.0	.	361	Q8N957	ANKF1_HUMAN	M	361	ENSP00000321627:T361M	ENSP00000321627:T361M	T	+	2	0	ANKFN1	51875267	0.993000	0.37304	0.966000	0.40874	0.964000	0.63967	6.516000	0.73755	2.684000	0.91462	0.563000	0.77884	ACG	ANKFN1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000435456.2		+	ENST00000566473.2	Missense_Mutation	SNP	17 : 54520268 - 54520268 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	346	20
SHCBP1L	81626	broad.mit.edu	37	1	182869360	182869360	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182869360C>A	ENST00000367547.3	-	10	1956	c.1720G>T	c.(1720-1722)Gca>Tca	p.A574S	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.A455S	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	646										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						AATTTGGGTGCTGGAAGAACC	0.274		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	40	40			NA	NA	1		NA											NA				182869360		2186	4291	6477	SO:0001583	missense			AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060	81626	81626			16788	protein-coding gene	gene with protein product			chromosome 1 open reading frame 14	C1orf14	NA	11318611	Standard	NM_030933	NM_030933	NA	Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.1720G>T	1.37:g.182869360C>A	ENSP00000356518:p.Ala574Ser	NA	Q4G195|Q9BZQ3|Q9H2B6	37	CCDS30955.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499865	0.64298	.	.	ENSG00000157060	ENST00000367547;ENST00000287709;ENST00000423786	T;T	0.42131	0.98;0.98	5.24	3.37	0.38596	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.109437	0.40908	D	0.000997	T	0.42743	0.1216	N	0.22421	0.69	0.27230	N	0.959419	D;P;D	0.71674	0.998;0.746;0.998	D;P;D	0.79108	0.992;0.488;0.986	T	0.28618	-1.0038	10	0.12103	T	0.63	-7.8294	9.2861	0.37758	0.0:0.8282:0.0:0.1718	.	646;455;574	Q9BZQ2;Q9BZQ2-2;Q9BZQ2-3	SHP1L_HUMAN;.;.	S	574;643;455	ENSP00000356518:A574S;ENSP00000397308:A455S	ENSP00000287709:A643S	A	-	1	0	SHCBP1L	181135983	0.976000	0.34144	0.997000	0.53966	0.997000	0.91878	1.494000	0.35616	0.605000	0.29947	0.585000	0.79938	GCA	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085956.1		-	ENST00000367547.3	Missense_Mutation	SNP	1 : 182869360 - 182869360 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	147	20
KMT2E	55904	broad.mit.edu	37	7	104752725	104752725	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:104752725G>A	ENST00000311117.3	+	27	5067	c.4522G>A	c.(4522-4524)Gcc>Acc	p.A1508T	SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000334914.7_Missense_Mutation_p.A563T|KMT2E_ENST00000257745.4_Missense_Mutation_p.A1508T|KMT2E_ENST00000334877.4_Missense_Mutation_p.A1466T	NM_182931.2	NP_891847.1			lysine (K)-specific methyltransferase 2E	NA											NA						GAACCTTCCAGCCAATACTCA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	114	112			NA	NA	7		NA											NA				104752725		2203	4300	6503	SO:0001583	missense			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483	55904	55904		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	18541	protein-coding gene	gene with protein product		608444	myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)	MLL5	NA	9218106, 7672722	Standard		XM_005250493	NA	Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.4522G>A	7.37:g.104752725G>A	ENSP00000312379:p.Ala1508Thr	NA		37	CCDS34723.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.15|10.15	1.271445|1.271445	0.23221|0.23221	.|.	.|.	ENSG00000005483|ENSG00000005483	ENST00000311117;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000334914|ENST00000393656	D;D;D;T|.	0.91521|.	-2.86;-2.53;-2.86;0.9|.	3.62|3.62	1.59|1.59	0.23543|0.23543	.|.	0.481172|.	0.17420|.	N|.	0.174859|.	T|T	0.27419|0.27419	0.0673|0.0673	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B|.	0.11235|.	0.004;0.0|.	B;B|.	0.12156|.	0.007;0.001|.	T|T	0.09122|0.09122	-1.0689|-1.0689	10|6	0.27785|0.62326	T|D	0.31|0.03	.|.	3.7284|3.7284	0.08484|0.08484	0.1082:0.2881:0.4785:0.1252|0.1082:0.2881:0.4785:0.1252	.|.	1428;1508|.	F8W6H1;Q8IZD2|.	.;MLL5_HUMAN|.	T|M	1508;1466;1428;1508;563|1508	ENSP00000312379:A1508T;ENSP00000335599:A1466T;ENSP00000257745:A1508T;ENSP00000333986:A563T|.	ENSP00000257745:A1508T|ENSP00000377266:V1508M	A|V	+|+	1|1	0|0	MLL5|MLL5	104539961|104539961	0.749000|0.749000	0.28305|0.28305	0.940000|0.940000	0.37924|0.37924	0.931000|0.931000	0.56810|0.56810	2.070000|2.070000	0.41491|0.41491	0.637000|0.637000	0.30526|0.30526	0.455000|0.455000	0.32223|0.32223	GCC|GTG	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348697.1		+	ENST00000311117.3	Missense_Mutation	SNP	7 : 104752725 - 104752725 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	68
VGLL3	389136	broad.mit.edu	37	3	87027680	87027680	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:87027680C>T	ENST00000398399.2	-	2	762	c.399G>A	c.(397-399)tgG>tgA	p.W133*	VGLL3_ENST00000383698.3_Nonsense_Mutation_p.W133*	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial-like family member 3	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TCTTACCTCGCCATAGGGGGG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	100	102			NA	NA	3		NA											NA				87027680		1884	4118	6002	SO:0001587	stop_gained			AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538	389136	389136			24327	protein-coding gene	gene with protein product		609980	vestigial like 3 (Drosophila)		NA	12376544	Standard	NM_016206	NM_016206	NA	Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.399G>A	3.37:g.87027680C>T	ENSP00000381436:p.Trp133*	NA	D3DU37|Q504T7	37	CCDS43110.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.252520|4.252520	0.80135|0.80135	.|.	.|.	ENSG00000206538|ENSG00000206538	ENST00000494229|ENST00000398399;ENST00000383698	.|.	.|.	.|.	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.52306|.	0.1726|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.43393|.	-0.9394|.	3|.	.|0.07175	.|T	.|0.84	-3.2935|-3.2935	18.901|18.901	0.92443|0.92443	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	T|X	67|133	.|.	.|ENSP00000373199:W133X	A|W	-|-	1|3	0|0	VGLL3|VGLL3	87110370|87110370	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.959000|0.959000	0.62525|0.62525	5.766000|5.766000	0.68843|0.68843	2.463000|2.463000	0.83235|0.83235	0.561000|0.561000	0.74099|0.74099	GCG|TGG	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352805.1		-	ENST00000398399.2	Nonsense_Mutation	SNP	3 : 87027680 - 87027680 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	588	85
PKD1L1	168507	broad.mit.edu	37	7	47906046	47906046	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47906046A>G	ENST00000289672.2	-	25	4113	c.4063T>C	c.(4063-4065)Tca>Cca	p.S1355P		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1355	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CTGCATACTGAAGAAATTAAT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	147	155			NA	NA	7		NA											NA				47906046		2203	4300	6503	SO:0001583	missense			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683	168507	168507			18053	protein-coding gene	gene with protein product	polycystin-1L1	609721			NA	11863367	Standard	NM_138295	NM_138295	NA	Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.4063T>C	7.37:g.47906046A>G	ENSP00000289672:p.Ser1355Pro	NA	Q6UWK1	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	A	12.05	1.822259	0.32237	.	.	ENSG00000158683	ENST00000289672	T	0.22539	1.95	4.94	3.75	0.43078	Egg jelly receptor, REJ-like (1);	0.367956	0.22074	N	0.064993	T	0.37237	0.0996	L	0.60455	1.87	0.26739	N	0.970422	D	0.76494	0.999	D	0.66196	0.942	T	0.12502	-1.0545	10	0.66056	D	0.02	-10.6409	9.1496	0.36955	0.6412:0.3588:0.0:0.0	.	1355	Q8TDX9	PK1L1_HUMAN	P	1355	ENSP00000289672:S1355P	ENSP00000289672:S1355P	S	-	1	0	PKD1L1	47872571	1.000000	0.71417	0.544000	0.28141	0.224000	0.24922	1.602000	0.36783	0.706000	0.31912	0.533000	0.62120	TCA	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340974.1		-	ENST00000289672.2	Missense_Mutation	SNP	7 : 47906046 - 47906046 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	591	102
AIM1	202	broad.mit.edu	37	6	106968895	106968895	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:106968895G>A	ENST00000369066.3	+	2	3075	c.2588G>A	c.(2587-2589)aGt>aAt	p.S863N		NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	863							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		ACGGCTTTCAGTACTTCTCAG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	74	73			NA	NA	6		NA											NA				106968895		2203	4300	6503	SO:0001583	missense			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297	202	202			356	protein-coding gene	gene with protein product	suppression of tumorigenicity 4, beta-gamma crystallin domain containing 1	601797	suppression of tumorigenicity 4 (malignant melanoma)	ST4	NA	1680551, 12693952	Standard		NM_001624	NA	Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.2588G>A	6.37:g.106968895G>A	ENSP00000358062:p.Ser863Asn	NA	O00296|Q5VWJ2	37	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596516	0.46318	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.72615	-0.67	5.99	5.12	0.69794	.	1.354340	0.04133	N	0.318282	T	0.51958	0.1705	L	0.57536	1.79	0.80722	D	1	P	0.38922	0.651	B	0.29785	0.107	T	0.54289	-0.8316	10	0.44086	T	0.13	.	10.16	0.42847	0.1977:0.0:0.8023:0.0	.	863	Q9Y4K1	AIM1_HUMAN	N	1271;863	ENSP00000358062:S863N	ENSP00000285105:S1271N	S	+	2	0	AIM1	107075588	1.000000	0.71417	0.972000	0.41901	0.967000	0.64934	1.573000	0.36472	1.544000	0.49359	0.655000	0.94253	AGT	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041669.1		+	ENST00000369066.3	Missense_Mutation	SNP	6 : 106968895 - 106968895 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	434	90
SCN1B	6324	broad.mit.edu	37	19	35524462	35524462	+	Silent	SNP	C	C	T	rs140949982	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35524462C>T	ENST00000262631.5	+	3	404	c.267C>T	c.(265-267)cgC>cgT	p.R89R	SCN1B_ENST00000415950.3_Silent_p.R89R|SCN1B_ENST00000596348.1_3'UTR|SCN1B_ENST00000595652.1_Intron	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	89	Ig-like C2-type.				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TCGAGGGCCGCGTGGTGTGGA	0.602		NA											C	4	0.0018	0.01	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0018	1	LOWCOV,EXOME	NA	NA	7e-04	SNP								NA				0								C	,	38,4368	41.6+/-74.8	0,38,2165	173	152	160		267,267	-9.1	0.5	19	dbSNP_134	160	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SCN1B	NM_001037.4,NM_199037.3	,	0,38,6465	TT,TC,CC	NA	0.0,0.8625,0.2922	,	89/219,89/269	35524462	38,12968	2203	4300	6503	SO:0001819	synonymous_variant				CCDS12441.1, CCDS46047.1	19q13.12	2014-09-17	2012-02-28		ENSG00000105711	ENSG00000105711	6324	6324		Sodium channels, Voltage-gated ion channels / Sodium channels, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	10586	protein-coding gene	gene with protein product		600235	sodium channel, voltage-gated, type I, beta polypeptide, sodium channel, voltage-gated, type I, beta		NA	8394762	Standard		NM_001037	NA	Approved		uc002nxo.2	Q07699	OTTHUMG00000182472	ENST00000262631.5:c.267C>T	19.37:g.35524462C>T		NA		37	CCDS12441.1																																																																																			SCN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461567.1		+	ENST00000262631.5	Silent	SNP	19 : 35524462 - 35524462 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1238	212
SNAPC4	6621	broad.mit.edu	37	9	139286432	139286432	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139286432C>T	ENST00000298532.2	-	9	1305	c.937G>A	c.(937-939)Ggc>Agc	p.G313S		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	313	HTH myb-type 1.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		TCCAGGTGGCCGTGTGCAGCC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	SER/GLY	0,4406		0,0,2203	58	57	57		937	4.3	1	9		57	1,8597	1.2+/-3.3	0,1,4298	no	missense	SNAPC4	NM_003086.2	56	0,1,6501	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	313/1470	139286432	1,13003	2203	4299	6502	SO:0001583	missense			AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684	6621	6621			11137	protein-coding gene	gene with protein product		602777	small nuclear RNA activating complex, polypeptide 4, 190kD		NA	9418884	Standard	NM_003086	XM_005266096	NA	Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.937G>A	9.37:g.139286432C>T	ENSP00000298532:p.Gly313Ser	NA	Q9Y6P7	37	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241696	0.39598	0.0	1.16E-4	ENSG00000165684	ENST00000298532	T	0.27890	1.64	5.35	4.34	0.51931	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.468654	0.24710	N	0.036231	T	0.30262	0.0759	M	0.69185	2.1	0.26832	N	0.968556	D	0.55172	0.97	B	0.42738	0.396	T	0.40515	-0.9559	10	0.59425	D	0.04	-39.7908	6.6974	0.23207	0.0:0.726:0.0:0.274	.	313	Q5SXM2	SNPC4_HUMAN	S	313	ENSP00000298532:G313S	ENSP00000298532:G313S	G	-	1	0	SNAPC4	138406253	0.065000	0.20965	0.954000	0.39281	0.337000	0.28794	0.614000	0.24314	2.507000	0.84556	0.655000	0.94253	GGC	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055071.1		-	ENST00000298532.2	Missense_Mutation	SNP	9 : 139286432 - 139286432 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	454	61
MBD3	53615	broad.mit.edu	37	19	1578415	1578415	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1578415G>A	ENST00000590550.2	-	5	1005	c.632C>T	c.(631-633)gCt>gTt	p.A211V	UQCR11_ENST00000585937.1_3'UTR|MBD3_ENST00000156825.1_Missense_Mutation_p.A267V|MBD3_ENST00000592012.1_Missense_Mutation_p.A235V|MBD3_ENST00000434436.3_Missense_Mutation_p.A267V			O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	267					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		gtcgtcctcAGCGCAGGCCTT	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	35	35			NA	NA	19		NA											NA				1578415		2203	4300	6503	SO:0001583	missense			AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655	53615	53615			6918	protein-coding gene	gene with protein product		603573			NA	9774669, 10441743	Standard	NM_003926	NM_001281454	NA	Approved		uc002ltl.1	O95983		ENST00000590550.2:c.632C>T	19.37:g.1578415G>A	ENSP00000464718:p.Ala211Val	NA	A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	37		.	.	.	.	.	.	.	.	.	.	G	18.04	3.535481	0.64972	.	.	ENSG00000071655	ENST00000434436;ENST00000156825	D	0.98493	-4.96	4.32	-2.66	0.06077	.	0.849959	0.10277	N	0.694043	D	0.92293	0.7555	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	D	0.84772	0.0768	10	0.66056	D	0.02	-1.199	1.1137	0.01710	0.2568:0.2808:0.3202:0.1423	.	235;267	O95983-2;O95983	.;MBD3_HUMAN	V	235;267	ENSP00000156825:A267V	ENSP00000156825:A267V	A	-	2	0	MBD3	1529415	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	0.207000	0.17395	-0.314000	0.08716	0.313000	0.20887	GCT	MBD3-007	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000449656.2		-	ENST00000590550.2	Missense_Mutation	SNP	19 : 1578415 - 1578415 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	60
GTF2E1	2960	broad.mit.edu	37	3	120469705	120469705	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120469705G>A	ENST00000283875.5	+	2	399	c.306G>A	c.(304-306)gtG>gtA	p.V102V		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	102	HTH TFE/IIEalpha-type.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		TTGTTAATGTGGTAAAATATA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	74	74			NA	NA	3		NA											NA				120469705		2203	4300	6503	SO:0001819	synonymous_variant			S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767	2960	2960		General transcription factors	4650	protein-coding gene	gene with protein product		189962	general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)		NA	1454543, 8162052	Standard	NM_005513	NM_005513	NA	Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.306G>A	3.37:g.120469705G>A		NA	Q16103	37	CCDS3002.1																																																																																			GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356770.1		+	ENST00000283875.5	Silent	SNP	3 : 120469705 - 120469705 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	375	58
SUSD1	64420	broad.mit.edu	37	9	114825286	114825286	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114825286A>C	ENST00000374270.3	-	13	1953	c.1781T>G	c.(1780-1782)tTt>tGt	p.F594C	SUSD1_ENST00000374263.3_Missense_Mutation_p.F594C|SUSD1_ENST00000374264.2_Missense_Mutation_p.F594C	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	594						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GTGCACCGTAAAAAATTCTAC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	122	119			NA	NA	9		NA											NA				114825286		2203	4300	6503	SO:0001583	missense			AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868	64420	64420			25413	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_022486	NM_022486	NA	Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.1781T>G	9.37:g.114825286A>C	ENSP00000363388:p.Phe594Cys	NA	A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	37	CCDS6783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.38|12.38	1.921354|1.921354	0.33908|0.33908	.|.	.|.	ENSG00000106868|ENSG00000106868	ENST00000374270;ENST00000374263;ENST00000374264|ENST00000355396	T;T;T|T	0.29917|0.52295	1.55;1.55;1.55|0.67	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	0.349077|0.349077	0.20881|0.20881	N|N	0.083985|0.083985	T|T	0.55784|0.55784	0.1942|0.1942	L|L	0.59436|0.59436	1.845|1.845	0.29950|0.29950	N|N	0.820311|0.820311	D;D;D|.	0.67145|.	0.996;0.969;0.988|.	P;P;P|.	0.56216|.	0.794;0.719;0.533|.	T|T	0.60767|0.60767	-0.7198|-0.7198	10|8	0.59425|0.72032	D|D	0.04|0.01	-5.4508|-5.4508	12.8644|12.8644	0.57932|0.57932	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	594;594;594|.	F8WAQ1;Q6UWL2-2;Q6UWL2|.	.;.;SUSD1_HUMAN|.	C|L	594|577	ENSP00000363388:F594C;ENSP00000363381:F594C;ENSP00000363382:F594C|ENSP00000347558:F577L	ENSP00000363381:F594C|ENSP00000347558:F577L	F|F	-|-	2|3	0|2	SUSD1|SUSD1	113865107|113865107	0.454000|0.454000	0.25728|0.25728	0.226000|0.226000	0.23910|0.23910	0.005000|0.005000	0.04900|0.04900	2.006000|2.006000	0.40874|0.40874	2.031000|2.031000	0.59945|0.59945	0.533000|0.533000	0.62120|0.62120	TTT|TTT	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053668.3		-	ENST00000374270.3	Missense_Mutation	SNP	9 : 114825286 - 114825286 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	546	122
ZNF35	7584	broad.mit.edu	37	3	44700999	44700999	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44700999C>T	ENST00000396056.2	+	4	1379	c.1144C>T	c.(1144-1146)Cga>Tga	p.R382*	ZNF35_ENST00000296092.3_3'UTR|ZNF35_ENST00000542250.1_Nonsense_Mutation_p.R222*|RP11-944L7.4_ENST00000457331.1_RNA	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	382					cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		TGTACATCAGCGAAGCCATAC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	76	73			NA	NA	3		NA											NA				44700999		2203	4300	6503	SO:0001587	stop_gained			X07289	CCDS2718.2	3p21.32	2013-01-08	2006-05-11		ENSG00000169981	ENSG00000169981	7584	7584		Zinc fingers, C2H2-type	13099	protein-coding gene	gene with protein product		194533	zinc finger protein 35 (clone HF.10)		NA	2108922, 1572646	Standard	NM_003420	NM_003420	NA	Approved	HF.10, HF10, Zfp105	uc003cnq.3	P13682	OTTHUMG00000133091	ENST00000396056.2:c.1144C>T	3.37:g.44700999C>T	ENSP00000379368:p.Arg382*	NA	B2RBU6|Q53Y54|Q96D01	37	CCDS2718.2	.	.	.	.	.	.	.	.	.	.	C	36	5.886527	0.97068	.	.	ENSG00000169981	ENST00000396056;ENST00000542250	.	.	.	5.29	3.41	0.39046	.	0.000000	0.37669	N	0.001982	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7148	12.6574	0.56795	0.4732:0.5268:0.0:0.0	.	.	.	.	X	382;222	.	ENSP00000379368:R382X	R	+	1	2	ZNF35	44676003	0.000000	0.05858	1.000000	0.80357	0.994000	0.84299	-0.397000	0.07269	1.441000	0.47550	0.561000	0.74099	CGA	ZNF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256749.4		+	ENST00000396056.2	Nonsense_Mutation	SNP	3 : 44700999 - 44700999 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	272	44
HERC2	8924	broad.mit.edu	37	15	28463640	28463640	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28463640T>G	ENST00000261609.7	-	38	6131	c.6023A>C	c.(6022-6024)aAg>aCg	p.K2008T		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2008					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CATACATGTCTTGTCCGTCGT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	80	74			NA	NA	15		NA											NA				28463640		1391	2356	3747	SO:0001583	missense			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731	8924	8924			4868	protein-coding gene	gene with protein product		605837	hect domain and RLD 2		NA	9949213	Standard	NM_004667	NM_004667	NA	Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.6023A>C	15.37:g.28463640T>G	ENSP00000261609:p.Lys2008Thr	NA	Q86SV7|Q86SV8|Q86SV9|Q86YY3|Q86YY4|Q86YY5|Q86YY6|Q86YY7|Q86YY8|Q86YY9|Q86YZ0|Q86YZ1	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	T	9.983	1.228679	0.22542	.	.	ENSG00000128731	ENST00000261609	T	0.39592	1.07	4.4	3.25	0.37280	.	0.110120	0.64402	N	0.000015	T	0.28962	0.0719	L	0.33485	1.01	0.58432	D	0.999999	B	0.18741	0.03	B	0.15052	0.012	T	0.05616	-1.0874	10	0.15952	T	0.53	.	11.3329	0.49487	0.0:0.0:0.1525:0.8475	.	2008	O95714	HERC2_HUMAN	T	2008	ENSP00000261609:K2008T	ENSP00000261609:K2008T	K	-	2	0	HERC2	26137235	1.000000	0.71417	0.984000	0.44739	0.404000	0.30871	3.061000	0.49963	0.805000	0.34159	0.528000	0.53228	AAG	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251358.2		-	ENST00000261609.7	Missense_Mutation	SNP	15 : 28463640 - 28463640 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	737	127
NCOR2	9612	broad.mit.edu	37	12	124885145	124885145	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124885145G>A	ENST00000405201.1	-	15	1715	c.1715C>T	c.(1714-1716)gCc>gTc	p.A572V	NCOR2_ENST00000404121.2_Missense_Mutation_p.A142V|NCOR2_ENST00000356219.3_Missense_Mutation_p.A572V|NCOR2_ENST00000404621.1_Missense_Mutation_p.A571V|NCOR2_ENST00000429285.2_Missense_Mutation_p.A571V|NCOR2_ENST00000397355.1_Missense_Mutation_p.A572V			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	572					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CTGGCTGTTGGCAGTTTTGCG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	143	149			NA	NA	12		NA											NA				124885145		1963	4154	6117	SO:0001583	missense			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498	9612	9612			7673	protein-coding gene	gene with protein product		600848	nuclear receptor co-repressor 2		NA	7566127, 8813722	Standard	NM_006312	NM_001077261	NA	Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1715C>T	12.37:g.124885145G>A	ENSP00000384018:p.Ala572Val	NA	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	37	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506717	0.64410	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.56337	0.1978	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.994;0.994;0.997	T	0.60271	-0.7296	10	0.87932	D	0	-31.0363	18.5739	0.91147	0.0:0.0:1.0:0.0	.	571;572;572	C9J0Q5;C9J239;C9JFD3	.;.;.	V	572;571;572;572;572;142;571;572	ENSP00000384018:A572V;ENSP00000384202:A571V;ENSP00000348551:A572V;ENSP00000380513:A572V;ENSP00000385618:A142V;ENSP00000400281:A571V;ENSP00000402808:A572V	ENSP00000348551:A572V	A	-	2	0	NCOR2	123451098	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.215000	0.95146	2.382000	0.81193	0.491000	0.48974	GCC	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318173.2		-	ENST00000405201.1	Missense_Mutation	SNP	12 : 124885145 - 124885145 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1037	179
TYW1	55253	broad.mit.edu	37	7	66489989	66489989	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66489989G>A	ENST00000359626.5	+	7	1128	c.964G>A	c.(964-966)Gat>Aat	p.D322N		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	322					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CAAAATTATGGATCATGTGAA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	136	138			NA	NA	7		NA											NA				66489989		2203	4300	6503	SO:0001583	missense			AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874	55253	55253			25598	protein-coding gene	gene with protein product	tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)	611243	radical S-adenosyl methionine and flavodoxin domains 1	RSAFD1	NA	16162496, 17150819	Standard	NM_018264	NM_018264	NA	Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.964G>A	7.37:g.66489989G>A	ENSP00000352645:p.Asp322Asn	NA	Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	37	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	G	0.215	-1.033688	0.02029	.	.	ENSG00000198874	ENST00000359626	T	0.16457	2.34	4.66	0.307	0.15811	.	0.696409	0.12879	N	0.431594	T	0.05640	0.0148	N	0.02916	-0.46	0.22541	N	0.99901	B	0.02656	0.0	B	0.01281	0.0	T	0.44143	-0.9347	10	0.09590	T	0.72	.	7.7957	0.29146	0.5755:0.0:0.4245:0.0	.	322	Q9NV66	TYW1_HUMAN	N	322	ENSP00000352645:D322N	ENSP00000352645:D322N	D	+	1	0	TYW1	66127424	0.798000	0.28890	0.135000	0.22099	0.494000	0.33585	1.228000	0.32588	-0.153000	0.11137	0.313000	0.20887	GAT	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251932.2		+	ENST00000359626.5	Missense_Mutation	SNP	7 : 66489989 - 66489989 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	549	106
TAS2R60	338398	broad.mit.edu	37	7	143140633	143140633	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143140633G>A	ENST00000332690.1	+	1	88	c.88G>A	c.(88-90)Gta>Ata	p.V30I	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	30					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TTTACGCCTGGTAGCAATAGC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													243	221	228			NA	NA	7		NA											NA				143140633		2203	4300	6503	SO:0001583	missense			AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899	338398	338398		Taste receptors / Type 2, GPCR / Unclassified : Taste receptors	20639	protein-coding gene	gene with protein product		613968			NA	12584440	Standard		NM_177437	NA	Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.88G>A	7.37:g.143140633G>A	ENSP00000327724:p.Val30Ile	NA	A4D2G8|Q645W8|Q7RTR7	37	CCDS5885.1	.	.	.	.	.	.	.	.	.	.	G	9.040	0.989567	0.18966	.	.	ENSG00000185899	ENST00000332690	T	0.38722	1.12	5.68	0.57	0.17347	.	0.678333	0.13091	U	0.414543	T	0.24624	0.0597	L	0.28504	0.86	0.09310	N	0.999999	B	0.31413	0.322	B	0.37550	0.253	T	0.23797	-1.0178	10	0.08381	T	0.77	.	1.7473	0.02964	0.2404:0.1384:0.4789:0.1424	.	30	P59551	T2R60_HUMAN	I	30	ENSP00000327724:V30I	ENSP00000327724:V30I	V	+	1	0	TAS2R60	142850755	0.034000	0.19679	0.022000	0.16811	0.019000	0.09904	0.535000	0.23114	0.045000	0.15804	0.655000	0.94253	GTA	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337541.1		+	ENST00000332690.1	Missense_Mutation	SNP	7 : 143140633 - 143140633 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	911	67
FRAS1	80144	broad.mit.edu	37	4	79421054	79421054	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79421054C>T	ENST00000264895.6	+	61	9735	c.9295C>T	c.(9295-9297)Cga>Tga	p.R3099*		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3094	Calx-beta 5.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCCAAAGAGCCGAGTCTTGAA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	116	118			NA	NA	4		NA											NA				79421054		1912	4149	6061	SO:0001587	stop_gained			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759	80144	80144			19185	protein-coding gene	gene with protein product		607830	Fraser syndrome 1		NA	12766769, 3118036	Standard		NM_025074	NA	Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.9295C>T	4.37:g.79421054C>T	ENSP00000264895:p.Arg3099*	NA	Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	37	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	9.057578|9.057578	0.99051|0.99051	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000512123|ENST00000264895	.|.	.|.	.|.	5.91|5.91	3.13|3.13	0.36017|0.36017	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|.	0.41650|.	0.1168|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.21586|.	-1.0241|.	4|.	.|0.02654	.|T	.|1	.|.	14.9947|14.9947	0.71421|0.71421	0.3824:0.6176:0.0:0.0|0.3824:0.6176:0.0:0.0	.|.	.|.	.|.	.|.	L|X	1327|3099	.|.	.|ENSP00000264895:R3099X	P|R	+|+	2|1	0|2	FRAS1|FRAS1	79640078|79640078	0.982000|0.982000	0.34865|0.34865	0.998000|0.998000	0.56505|0.56505	0.505000|0.505000	0.33919|0.33919	1.505000|1.505000	0.35736|0.35736	0.331000|0.331000	0.23511|0.23511	0.655000|0.655000	0.94253|0.94253	CCG|CGA	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding			+	ENST00000264895.6	Nonsense_Mutation	SNP	4 : 79421054 - 79421054 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	421	101
AAED1	195827	broad.mit.edu	37	9	99404096	99404096	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99404096A>C	ENST00000375234.3	-	6	625	c.626T>G	c.(625-627)cTt>cGt	p.L209R		NM_153698.1	NP_714542.1	Q7RTV5	CI021_HUMAN	AhpC/TSA antioxidant enzyme domain containing 1	209							antioxidant activity|oxidoreductase activity				NA						AACTCCTACAAGCTGTAAAAC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	111	114			NA	NA	9		NA											NA				99404096		2203	4300	6503	SO:0001583	missense			BK000255	CCDS35073.1	9q22.32	2013-01-07	2012-03-06	2012-03-06	ENSG00000158122	ENSG00000158122	195827	195827			16881	protein-coding gene	gene with protein product			chromosome 9 open reading frame 21	C9orf21	NA		Standard	NM_153698	XM_005251783	NA	Approved		uc004awm.3	Q7RTV5	OTTHUMG00000020299	ENST00000375234.3:c.626T>G	9.37:g.99404096A>C	ENSP00000364382:p.Leu209Arg	NA	B2RMW4|Q5JU02	37	CCDS35073.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.07|17.07	3.294235|3.294235	0.60086|0.60086	.|.	.|.	ENSG00000158122|ENSG00000158122	ENST00000375234;ENST00000375233|ENST00000411939	T|T	0.50548|0.49720	0.74|0.77	5.29|5.29	4.14|4.14	0.48551|0.48551	.|.	0.066611|0.066611	0.64402|0.64402	D|D	0.000008|0.000008	T|T	0.48295|0.48295	0.1492|0.1492	M|M	0.66939|0.66939	2.045|2.045	0.52501|0.52501	D|D	0.999959|0.999959	D|.	0.71674|.	0.998|.	D|.	0.66602|.	0.945|.	T|T	0.37572|0.37572	-0.9700|-0.9700	10|8	0.66056|0.13470	D|T	0.02|0.59	-12.0304|-12.0304	7.0367|7.0367	0.24996|0.24996	0.6983:0.1541:0.0:0.1476|0.6983:0.1541:0.0:0.1476	.|.	209|.	Q7RTV5|.	CI021_HUMAN|.	R|V	209;165|93	ENSP00000364382:L209R|ENSP00000412378:L93V	ENSP00000364381:L165R|ENSP00000412378:L93V	L|L	-|-	2|1	0|2	C9orf21|C9orf21	98443917|98443917	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	5.427000|5.427000	0.66483|0.66483	1.009000|1.009000	0.39289|0.39289	0.533000|0.533000	0.62120|0.62120	CTT|TTG	AAED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053273.1		-	ENST00000375234.3	Missense_Mutation	SNP	9 : 99404096 - 99404096 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	434	81
NCOA1	8648	broad.mit.edu	37	2	24991146	24991146	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24991146C>T	ENST00000406961.1	+	23	4864	c.4212C>T	c.(4210-4212)ggC>ggT	p.G1404G	NCOA1_ENST00000405141.1_3'UTR|NCOA1_ENST00000395856.3_Silent_p.G1403G|NCOA1_ENST00000538539.1_3'UTR|NCOA1_ENST00000407230.1_3'UTR|NCOA1_ENST00000288599.5_3'UTR|NCOA1_ENST00000348332.3_Silent_p.G1404G			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1404								p.G1404G(1)	PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCTGGTAGGCGGGGACCCTT	0.557		NA	T	PAX3	alveolar rhadomyosarcoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	1	Substitution - coding silent(1)	large_intestine(1)											100	101	100			NA	NA	2		NA											NA				24991146		2203	4300	6503	SO:0001819	synonymous_variant			U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676	8648	8648		Chromatin-modifying enzymes / K-acetyltransferases, Basic helix-loop-helix proteins	7668	protein-coding gene	gene with protein product		602691			NA	7481822, 9575154	Standard	NM_147223	XM_005264625	NA	Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.4212C>T	2.37:g.24991146C>T		NA	O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	37	CCDS1712.1																																																																																			NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000246852.3		+	ENST00000406961.1	Silent	SNP	2 : 24991146 - 24991146 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	662	100
USP17L2	377630	broad.mit.edu	37	8	11994753	11994753	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11994753G>A	ENST00000333796.3	-	1	1833	c.1517C>T	c.(1516-1518)gCt>gTt	p.A506V	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	506					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TTGCAGAGAAGCGAGGGTGCC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	79	76			NA	NA	8		NA											NA				11994753		1436	2999	4435	SO:0001583	missense			BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443	377630	377630			34434	protein-coding gene	gene with protein product	deubiquitinating enzyme 3	610186	ubiquitin specific peptidase 17-like 2		NA		Standard	NM_201402	NM_201402	NA	Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.1517C>T	8.37:g.11994753G>A	ENSP00000333329:p.Ala506Val	NA		37	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	G	1.052	-0.675426	0.03378	.	.	ENSG00000223443	ENST00000333796	T	0.12147	2.71	0.418	0.418	0.16429	.	3.924260	0.01239	U	0.008577	T	0.08179	0.0204	N	0.08118	0	0.09310	N	1	B	0.20459	0.045	B	0.18263	0.021	T	0.28332	-1.0047	9	0.40728	T	0.16	.	.	.	.	.	506	Q6R6M4	U17L2_HUMAN	V	506	ENSP00000333329:A506V	ENSP00000333329:A506V	A	-	2	0	USP17L2	12032162	0.003000	0.15002	0.005000	0.12908	0.005000	0.04900	0.527000	0.22987	0.476000	0.27440	0.479000	0.44913	GCT	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383303.2		-	ENST00000333796.3	Missense_Mutation	SNP	8 : 11994753 - 11994753 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	571	74
ATG2B	55102	broad.mit.edu	37	14	96789073	96789073	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96789073C>A	ENST00000359933.4	-	17	3434		c.e17-1			NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	NA										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CAGTACAATTCTGATAGCAAA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	85	88			NA	NA	14		NA											NA				96789073		1839	4092	5931	SO:0001630	splice_region_variant			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739	55102	55102			20187	protein-coding gene	gene with protein product			chromosome 14 open reading frame 103, ATG2 autophagy related 2 homolog B (S. cerevisiae)	C14orf103	NA	22350415	Standard	NM_018036	NM_018036	NA	Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.2541-1G>T	14.37:g.96789073C>A		NA	Q6ZRE7|Q96DQ3|Q9NW80	37	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516160	0.64634	.	.	ENSG00000066739	ENST00000359933	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7654	0.96337	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATG2B	95858826	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	7.270000	0.78493	2.679000	0.91253	0.655000	0.94253	.	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000314037.1	Intron	-	ENST00000359933.4	Splice_Site	SNP	14 : 96789073 - 96789073 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	279	51
DDX4	54514	broad.mit.edu	37	5	55076936	55076936	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55076936G>A	ENST00000505374.1	+	9	631	c.539G>A	c.(538-540)gGc>gAc	p.G180D	DDX4_ENST00000514278.2_Missense_Mutation_p.G160D|DDX4_ENST00000511853.1_Missense_Mutation_p.G47D|DDX4_ENST00000354991.5_Missense_Mutation_p.G146D|DDX4_ENST00000353507.5_Missense_Mutation_p.G146D	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	180	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				CGCACTGGTGGCCTTTTTGGT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	105	105			NA	NA	5		NA											NA				55076936		2203	4300	6503	SO:0001583	missense			AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670	54514	54514		DEAD-boxes	18700	protein-coding gene	gene with protein product		605281	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4		NA	10920202, 11850529	Standard	NM_024415	NM_001142549	NA	Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.539G>A	5.37:g.55076936G>A	ENSP00000424838:p.Gly180Asp	NA	A8K8Q2|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	37	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993511	0.54041	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000354991;ENST00000511853	T;T;T;T;T;T	0.25085	1.91;1.85;1.82;3.35;1.91;1.87	5.39	5.39	0.77823	.	0.248184	0.39475	N	0.001360	T	0.17831	0.0428	N	0.22421	0.69	0.35274	D	0.780699	P;P;B;P	0.43826	0.547;0.779;0.41;0.818	B;B;B;B	0.37650	0.245;0.184;0.211;0.255	T	0.14896	-1.0456	10	0.37606	T	0.19	-24.5727	14.5308	0.67923	0.0:0.0:1.0:0.0	.	160;47;146;180	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	D	146;160;180;160;146;47	ENSP00000334167:G146D;ENSP00000425359:G160D;ENSP00000424838:G180D;ENSP00000427167:G160D;ENSP00000347087:G146D;ENSP00000423123:G47D	ENSP00000334167:G146D	G	+	2	0	DDX4	55112693	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	2.772000	0.47678	2.801000	0.96364	0.650000	0.86243	GGC	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214147.2		+	ENST00000505374.1	Missense_Mutation	SNP	5 : 55076936 - 55076936 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	502	85
C6orf118	168090	broad.mit.edu	37	6	165715502	165715502	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165715502C>T	ENST00000230301.8	-	2	329	c.309G>A	c.(307-309)gcG>gcA	p.A103A	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	103										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CCTTCATCCTCGCCACCTTCC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	65	63			NA	NA	6		NA											NA				165715502		2203	4300	6503	SO:0001819	synonymous_variant				CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539	168090	168090			21233	protein-coding gene	gene with protein product					NA		Standard	NM_144980	NM_144980	NA	Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.309G>A	6.37:g.165715502C>T		NA	Q8TC11	37	CCDS5288.1																																																																																			C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043026.1		-	ENST00000230301.8	Silent	SNP	6 : 165715502 - 165715502 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	432	96
MUC16	94025	broad.mit.edu	37	19	9067822	9067822	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9067822T>C	ENST00000397910.4	-	3	19827	c.19624A>G	c.(19624-19626)Act>Gct	p.T6542A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6544	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						GGGAGTGAAGTCAGATGAACA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	78	80			NA	NA	19		NA											NA				9067822		1935	4119	6054	SO:0001583	missense			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.19624A>G	19.37:g.9067822T>C	ENSP00000381008:p.Thr6542Ala	NA	Q6ZQW5|Q96RK2	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	2.252	-0.371374	0.05034	.	.	ENSG00000181143	ENST00000397910	T	0.26518	1.73	0.691	0.691	0.18045	.	.	.	.	.	T	0.37019	0.0988	L	0.52573	1.65	.	.	.	D	0.55605	0.972	P	0.59948	0.866	T	0.52260	-0.8599	7	0.87932	D	0	.	.	.	.	.	6542	B5ME49	.	A	6542	ENSP00000381008:T6542A	ENSP00000381008:T6542A	T	-	1	0	MUC16	8928822	0.000000	0.05858	0.004000	0.12327	0.042000	0.13812	-0.860000	0.04272	0.568000	0.29311	0.149000	0.16113	ACT	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Missense_Mutation	SNP	19 : 9067822 - 9067822 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	181	37
RCC2	55920	broad.mit.edu	37	1	17749218	17749218	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17749218T>G	ENST00000375436.4	-	5	825	c.638A>C	c.(637-639)cAc>cCc	p.H213P	RCC2_ENST00000375433.3_Missense_Mutation_p.H213P	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	213					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		GGCCAAGGTGTGGTTCCGCCC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	88	95			NA	NA	1		NA											NA				17749218		2203	4300	6503	SO:0001583	missense				CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051	55920	55920			30297	protein-coding gene	gene with protein product		609587			NA	10819331, 12919680	Standard	NM_018715	NM_018715	NA	Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.638A>C	1.37:g.17749218T>G	ENSP00000364585:p.His213Pro	NA	Q8IVL9|Q9BSN6|Q9NPV8	37	CCDS181.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.150176	0.78001	.	.	ENSG00000179051	ENST00000375436;ENST00000375433	D;D	0.92048	-2.96;-2.96	5.1	5.1	0.69264	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.97654	0.9231	H	0.98466	4.24	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.98922	1.0784	10	0.87932	D	0	-27.7457	14.0094	0.64486	0.0:0.0:0.0:1.0	.	213	Q9P258	RCC2_HUMAN	P	213	ENSP00000364585:H213P;ENSP00000364582:H213P	ENSP00000364582:H213P	H	-	2	0	RCC2	17621805	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.884000	0.87274	2.059000	0.61396	0.454000	0.30748	CAC	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007144.1		-	ENST00000375436.4	Missense_Mutation	SNP	1 : 17749218 - 17749218 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	357	55
CACNA1E	777	broad.mit.edu	37	1	181767892	181767892	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181767892C>T	ENST00000526775.1	+	46	6843	c.6678C>T	c.(6676-6678)cgC>cgT	p.R2226R	CACNA1E_ENST00000367570.1_Silent_p.R2245R|CACNA1E_ENST00000367573.2_Silent_p.R2288R|CACNA1E_ENST00000367567.4_Silent_p.R1852R|CACNA1E_ENST00000360108.3_Silent_p.R2269R|CACNA1E_ENST00000357570.5_Silent_p.R2239R|CACNA1E_ENST00000358338.5_Silent_p.R2177R	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2288					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGCGGAGGCGCGGGGGGCCTG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	17	16			NA	NA	1		NA											NA				181767892		1966	4140	6106	SO:0001819	synonymous_variant			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216	777	777		Calcium channel subunits, Voltage-gated ion channels / Calcium channels, EF-hand domain containing	1392	protein-coding gene	gene with protein product		601013		CACNL1A6	NA	8388125, 16382099	Standard	NM_000721	NM_001205293	NA	Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000526775.1:c.6678C>T	1.37:g.181767892C>T		NA	B1AM12|B1AM13|B1AM14|Q14580|Q14581	37	CCDS55665.1																																																																																			CACNA1E-002	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090792.2		+	ENST00000526775.1	Silent	SNP	1 : 181767892 - 181767892 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	148	45
GPR149	344758	broad.mit.edu	37	3	154055600	154055600	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:154055600G>A	ENST00000389740.2	-	4	2183	c.2084C>T	c.(2083-2085)gCa>gTa	p.A695V		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	695						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTGCCTGTGTGCTTCTACTGT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													309	282	290			NA	NA	3		NA											NA				154055600		1939	4150	6089	SO:0001583	missense			AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948	344758	344758		GPCR / Class A : Orphans	23627	protein-coding gene	gene with protein product					NA	12679517	Standard	XM_293580	NM_001038705	NA	Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.2084C>T	3.37:g.154055600G>A	ENSP00000374390:p.Ala695Val	NA		37	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387473	0.82902	.	.	ENSG00000174948	ENST00000389740	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.67221	0.2870	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.70550	-0.4841	9	0.87932	D	0	-17.2027	20.063	0.97692	0.0:0.0:1.0:0.0	.	695	Q86SP6	GP149_HUMAN	V	695	.	ENSP00000374390:A695V	A	-	2	0	GPR149	155538294	1.000000	0.71417	0.952000	0.39060	0.444000	0.32077	9.455000	0.97625	2.741000	0.93983	0.650000	0.86243	GCA	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353430.1		-	ENST00000389740.2	Missense_Mutation	SNP	3 : 154055600 - 154055600 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1284	225
PDE4DIP	9659	broad.mit.edu	37	1	144879119	144879119	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144879119C>A	ENST00000530740.1	-	30	4777	c.4739G>T	c.(4738-4740)aGa>aTa	p.R1580I	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R1580I|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R1444I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R1444I|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R1400I|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1444	NBPF.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTGGGATACTCTCTGGATGAG	0.562		NA	T	PDGFRB	MPD									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													104	114	111			NA	NA	1		NA											NA				144879119		2203	4300	6503	SO:0001583	missense			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104	9659	9659			15580	protein-coding gene	gene with protein product	myomegalin	608117	cardiomyopathy associated 2	CMYA2	NA	9455484, 11134006	Standard	NM_022359	NM_022359	NA	Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000530740.1:c.4739G>T	1.37:g.144879119C>A	ENSP00000435654:p.Arg1580Ile	NA	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	37		.	.	.	.	.	.	.	.	.	.	C	33	5.225105	0.95173	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.03212	4.01;4.06;4.02;4.05;4.07	5.82	5.82	0.92795	.	.	.	.	.	T	0.12050	0.0293	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.996	T	0.00295	-1.1839	9	0.87932	D	0	.	17.5829	0.87973	0.0:1.0:0.0:0.0	.	1400;1444	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	I	1400;1444;1444;1580;1580	ENSP00000327209:R1400I;ENSP00000358360:R1444I;ENSP00000358363:R1444I;ENSP00000435654:R1580I;ENSP00000358366:R1580I	ENSP00000327209:R1400I	R	-	2	0	PDE4DIP	143590476	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.774000	0.75012	2.765000	0.95021	0.591000	0.81541	AGA	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000384663.2		-	ENST00000530740.1	Missense_Mutation	SNP	1 : 144879119 - 144879119 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	771	33
B4GALNT1	2583	broad.mit.edu	37	12	58022910	58022910	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58022910T>G	ENST00000418555.2	-	6	674	c.567A>C	c.(565-567)ggA>ggC	p.G189G	B4GALNT1_ENST00000341156.4_Silent_p.G244G|B4GALNT1_ENST00000449184.3_Intron			Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	244					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CAGCCTCATGTCCCTCGGTGG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	67	69			NA	NA	12		NA											NA				58022910		2203	4300	6503	SO:0001819	synonymous_variant			M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2583	2583	2.4.1.92	Beta 4-glycosyltransferases, Glycosyltransferase family 2 domain containing	4117	protein-coding gene	gene with protein product	GD2 synthase, GM2 synthase	601873	UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T), UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1, spastic paraplegia 26	GALGT, SPG26	NA	1601877, 23746551	Standard	NM_001478	NM_001478	NA	Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000418555.2:c.567A>C	12.37:g.58022910T>G		NA		37																																																																																				B4GALNT1-006	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000407855.1		-	ENST00000418555.2	Silent	SNP	12 : 58022910 - 58022910 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	155	29
RNF123	63891	broad.mit.edu	37	3	49742976	49742976	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49742976G>T	ENST00000327697.6	+	24	2312	c.2168G>T	c.(2167-2169)aGc>aTc	p.S723I	RNF123_ENST00000432042.1_Missense_Mutation_p.S577I	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	723						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GTTGAAGGCAGCCACTGGAAT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	35	35			NA	NA	3		NA											NA				49742976		2203	4300	6503	SO:0001583	missense			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068	63891	63891		RING-type (C3HC4) zinc fingers	21148	protein-coding gene	gene with protein product		614472			NA		Standard	NM_022064	NM_022064	NA	Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.2168G>T	3.37:g.49742976G>T	ENSP00000328287:p.Ser723Ile	NA	A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	37	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196140	0.38806	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.77098	-0.75;-1.07	5.46	2.71	0.32032	.	0.382752	0.28933	N	0.013663	T	0.53351	0.1791	N	0.14661	0.345	0.80722	D	1	P;B	0.41265	0.744;0.089	B;B	0.34038	0.174;0.037	T	0.49011	-0.8983	10	0.40728	T	0.16	-13.4445	5.2758	0.15649	0.3055:0.1404:0.5541:0.0	.	577;723	C9J266;Q5XPI4	.;RN123_HUMAN	I	723;723;577	ENSP00000328287:S723I;ENSP00000392443:S577I	ENSP00000328287:S723I	S	+	2	0	RNF123	49717980	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	2.783000	0.47766	0.678000	0.31325	-0.258000	0.10820	AGC	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346475.2		+	ENST00000327697.6	Missense_Mutation	SNP	3 : 49742976 - 49742976 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	310	54
FRAS1	80144	broad.mit.edu	37	4	79343150	79343150	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79343150C>T	ENST00000325942.6	+	34	5114	c.4674C>T	c.(4672-4674)ttC>ttT	p.F1558F	FRAS1_ENST00000264895.6_Silent_p.F1558F	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1557					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCTTCTCGTTCGCTGGTAATG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	117	114			NA	NA	4		NA											NA				79343150		2073	4195	6268	SO:0001819	synonymous_variant			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759	80144	80144			19185	protein-coding gene	gene with protein product		607830	Fraser syndrome 1		NA	12766769, 3118036	Standard		NM_025074	NA	Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.4674C>T	4.37:g.79343150C>T		NA	Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	37	CCDS54772.1																																																																																			FRAS1-001	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362706.2		+	ENST00000325942.6	Silent	SNP	4 : 79343150 - 79343150 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	741	26
CCKBR	887	broad.mit.edu	37	11	6292613	6292613	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6292613G>A	ENST00000525462.1	+	4	1394	c.1391G>A	c.(1390-1392)cGt>cAt	p.R464H	CCKBR_ENST00000334619.2_Missense_Mutation_p.R395H|CCKBR_ENST00000532715.1_Missense_Mutation_p.R311H			P32239	GASR_HUMAN	cholecystokinin B receptor	395					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TTCATGCACCGTCGCTTTCGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	88	92			NA	NA	11		NA											NA				6292613		2201	4296	6497	SO:0001583	missense			D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148	887	887		GPCR / Class A : Cholecystokinin receptors	1571	protein-coding gene	gene with protein product		118445			NA	1280419	Standard	NM_176875	NM_176875	NA	Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000525462.1:c.1391G>A	11.37:g.6292613G>A	ENSP00000435534:p.Arg464His	NA	A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	37		.	.	.	.	.	.	.	.	.	.	G	18.41	3.618093	0.66787	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525462	T;T;T	0.39592	1.07;1.07;1.07	5.24	5.24	0.73138	.	0.320210	0.28996	N	0.013466	T	0.50188	0.1601	L	0.34521	1.04	0.32301	N	0.565033	D;D	0.89917	0.999;1.0	D;D	0.69654	0.965;0.943	T	0.59726	-0.7400	10	0.62326	D	0.03	.	10.9615	0.47387	0.0865:0.0:0.9135:0.0	.	464;395	P32239-2;P32239	.;GASR_HUMAN	H	395;311;464	ENSP00000335544:R395H;ENSP00000432079:R311H;ENSP00000435534:R464H	ENSP00000335544:R395H	R	+	2	0	CCKBR	6249189	0.012000	0.17670	0.999000	0.59377	0.992000	0.81027	0.735000	0.26115	2.425000	0.82216	0.557000	0.71058	CGT	CCKBR-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000383770.1		+	ENST00000525462.1	Missense_Mutation	SNP	11 : 6292613 - 6292613 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	788	78
LGALS8	3964	broad.mit.edu	37	1	236706282	236706282	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236706282C>T	ENST00000526589.1	+	11	1137	c.617C>T	c.(616-618)tCg>tTg	p.S206L	LGALS8_ENST00000526634.1_Intron|LGALS8_ENST00000341872.6_Intron|LGALS8_ENST00000450372.2_Missense_Mutation_p.S206L|RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000525042.1_Missense_Mutation_p.S147L|LGALS8_ENST00000527974.1_Missense_Mutation_p.S206L|LGALS8_ENST00000323938.6_Intron|LGALS8_ENST00000366584.4_Intron|LGALS8_ENST00000416919.2_Missense_Mutation_p.S147L|LGALS8_ENST00000352231.2_Missense_Mutation_p.S206L			O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	183	Galectin 2.					cytoplasm|extracellular space	sugar binding			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGCAAAGATTCGACTGTCAAT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	113	115			NA	NA	1		NA											NA				236706282		2203	4300	6503	SO:0001583	missense			X91790	CCDS1611.1, CCDS1612.1	1q43	2011-08-04	2008-07-25		ENSG00000116977	ENSG00000116977	3964	3964		Lectins, galactoside-binding	6569	protein-coding gene	gene with protein product	galectin 8	606099			NA	7852431, 8692978	Standard	NM_006499	NM_201545	NA	Approved	PCTA-1	uc001hxy.2	O00214	OTTHUMG00000039953	ENST00000526589.1:c.617C>T	1.37:g.236706282C>T	ENSP00000435460:p.Ser206Leu	NA	O15215|Q5T3P5|Q5T3Q4|Q8TEV1|Q96B92|Q9BXC8|Q9H584|Q9H585|Q9UEZ6|Q9UP32|Q9UP33|Q9UP34	37	CCDS1611.1	.	.	.	.	.	.	.	.	.	.	C	4.511	0.094836	0.08681	.	.	ENSG00000116977	ENST00000527974;ENST00000352231;ENST00000406509;ENST00000526589;ENST00000450372;ENST00000416919;ENST00000525042	T;T;T;T;T;T;T	0.05925	3.68;3.68;3.37;3.68;3.68;3.61;3.61	4.36	3.45	0.39498	.	0.716365	0.13239	N	0.402993	T	0.02688	0.0081	N	0.08118	0	0.09310	N	1	P;B	0.47350	0.894;0.007	B;B	0.37239	0.244;0.003	T	0.33369	-0.9871	10	0.11182	T	0.66	.	8.3519	0.32307	0.0:0.8947:0.0:0.1053	.	147;206	F6V2D4;O00214-2	.;.	L	206;206;206;206;206;147;147	ENSP00000431398:S206L;ENSP00000309576:S206L;ENSP00000385999:S206L;ENSP00000435460:S206L;ENSP00000408657:S206L;ENSP00000410843:S147L;ENSP00000431884:S147L	ENSP00000309576:S206L	S	+	2	0	LGALS8	234772905	0.011000	0.17503	0.089000	0.20774	0.706000	0.40770	1.002000	0.29796	1.438000	0.47492	0.655000	0.94253	TCG	LGALS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096364.4		+	ENST00000526589.1	Missense_Mutation	SNP	1 : 236706282 - 236706282 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	474	104
MARK3	4140	broad.mit.edu	37	14	103969447	103969447	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103969447G>T	ENST00000429436.2	+	18	2655	c.2145G>T	c.(2143-2145)atG>atT	p.M715I	MARK3_ENST00000553942.1_Missense_Mutation_p.M706I|MARK3_ENST00000440884.3_Missense_Mutation_p.M621I|MARK3_ENST00000216288.7_Missense_Mutation_p.M675I|MARK3_ENST00000416682.2_Missense_Mutation_p.M714I|MARK3_ENST00000303622.9_Missense_Mutation_p.M691I|MARK3_ENST00000335102.5_Missense_Mutation_p.M738I	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	715	KA1.						ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			AGTGGGAAATGGAAGTGTGCA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	66	65			NA	NA	14		NA											NA				103969447		2034	4215	6249	SO:0001583	missense			M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413	4140	4140			6897	protein-coding gene	gene with protein product		602678			NA	9533022	Standard	NM_001128918	NM_002376	NA	Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.2145G>T	14.37:g.103969447G>T	ENSP00000411397:p.Met715Ile	NA	O60219|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	37	CCDS45165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.98|14.98	2.697104|2.697104	0.48202|0.48202	.|.	.|.	ENSG00000075413|ENSG00000075413	ENST00000335102;ENST00000411530;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942;ENST00000556744|ENST00000554627	T;T;T;T;T;T;T;T|.	0.37915|.	1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Kinase-associated KA1 (4);|.	0.105274|.	0.85682|.	D|.	0.000000|.	T|T	0.47728|0.47728	0.1461|0.1461	N|N	0.05158|0.05158	-0.105|-0.105	0.80722|0.80722	D|D	1|1	B;D;B;P;B;B;P;B;B|.	0.56746|.	0.168;0.977;0.168;0.932;0.162;0.035;0.454;0.264;0.289|.	B;D;B;D;B;B;B;B;B|.	0.63488|.	0.192;0.912;0.101;0.915;0.075;0.134;0.266;0.175;0.192|.	T|T	0.41288|0.41288	-0.9517|-0.9517	10|5	0.22706|.	T|.	0.39|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	722;293;714;424;675;715;621;706;691|.	P27448-7;A2SY06;P27448-2;B4DKN1;P27448-6;P27448;Q86TT8;P27448-4;P27448-3|.	.;.;.;.;.;MARK3_HUMAN;.;.;.|.	I|L	738;407;621;714;715;691;675;706;293|467	ENSP00000335347:M738I;ENSP00000402104:M621I;ENSP00000408092:M714I;ENSP00000411397:M715I;ENSP00000303698:M691I;ENSP00000216288:M675I;ENSP00000450772:M706I;ENSP00000451623:M293I|.	ENSP00000216288:M706I|.	M|W	+|+	3|2	0|0	MARK3|MARK3	103039200|103039200	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.302000|0.302000	0.27658|0.27658	9.807000|9.807000	0.99171|0.99171	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	ATG|TGG	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415144.1		+	ENST00000429436.2	Missense_Mutation	SNP	14 : 103969447 - 103969447 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	75
GON4L	54856	broad.mit.edu	37	1	155732150	155732150	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155732150G>A	ENST00000437809.1	-	23	4864	c.4742C>T	c.(4741-4743)gCt>gTt	p.A1581V	GON4L_ENST00000368331.1_Missense_Mutation_p.A1581V|GON4L_ENST00000271883.5_Missense_Mutation_p.A1581V	NM_001282856.1	NP_001269785.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1581					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTTTCCAGCAGCTTTGATGCT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	58	59			NA	NA	1		NA											NA				155732150		1991	4171	6162	SO:0001583	missense			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580	54856	54856			25973	protein-coding gene	gene with protein product		610393	gon-4 homolog (C.elegans)	GON4	NA	16545939, 21454521	Standard	NM_032292	XM_005245283	NA	Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000437809.1:c.4742C>T	1.37:g.155732150G>A	ENSP00000396117:p.Ala1581Val	NA	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	37	CCDS44242.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522108	0.64747	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883	T;T;T	0.12672	2.66;2.66;2.66	5.13	3.21	0.36854	.	0.280404	0.31123	N	0.008201	T	0.07954	0.0199	N	0.14661	0.345	0.30708	N	0.74962	D;D;D	0.89917	0.997;0.999;1.0	D;D;D	0.85130	0.985;0.994;0.997	T	0.09143	-1.0688	10	0.59425	D	0.04	.	5.1678	0.15094	0.0779:0.1456:0.6255:0.1509	.	777;1581;1581	Q1ED43;Q3T8J9;Q3T8J9-3	.;GON4L_HUMAN;.	V	1581	ENSP00000396117:A1581V;ENSP00000357315:A1581V;ENSP00000271883:A1581V	ENSP00000271883:A1581V	A	-	2	0	GON4L	153998774	0.989000	0.36119	0.997000	0.53966	0.690000	0.40134	1.827000	0.39102	0.699000	0.31761	0.305000	0.20034	GCT	GON4L-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340937.1		-	ENST00000437809.1	Missense_Mutation	SNP	1 : 155732150 - 155732150 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	173	43
ACOT12	134526	broad.mit.edu	37	5	80655779	80655779	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80655779G>A	ENST00000307624.3	-	5	467	c.439C>T	c.(439-441)Cga>Tga	p.R147*	ACOT12_ENST00000513751.1_Nonsense_Mutation_p.R147*	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	147					acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	p.R147*(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TGTTGTAATCGAACTTTCCTT	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Nonsense(1)	large_intestine(1)											132	129	130			NA	NA	5		NA											NA				80655779		2203	4300	6503	SO:0001587	stop_gained			AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497	134526	134526		Acyl CoA thioesterases, StAR-related lipid transfer (START) domain containing	24436	protein-coding gene	gene with protein product	StAR-related lipid transfer (START) domain containing 15	614315			NA	16103133, 16940157	Standard	NM_130767	NM_130767	NA	Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.439C>T	5.37:g.80655779G>A	ENSP00000303246:p.Arg147*	NA	B3KVK9	37	CCDS4055.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121210	0.56613	.	.	ENSG00000172497	ENST00000307624;ENST00000513751	.	.	.	5.04	3.07	0.35406	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.9079	13.1836	0.59668	0.0:0.0:0.7144:0.2856	.	.	.	.	X	147	.	ENSP00000303246:R147X	R	-	1	2	ACOT12	80691535	1.000000	0.71417	0.958000	0.39756	0.533000	0.34776	2.560000	0.45896	1.203000	0.43233	0.655000	0.94253	CGA	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254074.1		-	ENST00000307624.3	Nonsense_Mutation	SNP	5 : 80655779 - 80655779 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	67
BOD1L1	259282	broad.mit.edu	37	4	13600913	13600913	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13600913A>G	ENST00000040738.5	-	10	7746	c.7611T>C	c.(7609-7611)gaT>gaC	p.D2537D		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	2537							DNA binding				NA						GTGGCATGTCATCAGCTTTTA	0.512		NA									OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	62	66			NA	NA	4		NA											NA				13600913		2203	4300	6503	SO:0001819	synonymous_variant			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219	259282	259282			31792	protein-coding gene	gene with protein product			family with sequence similarity 44, member A, biorientation of chromosomes in cell division 1-like	FAM44A, BOD1L	NA		Standard	NM_148894	XM_005248150	NA	Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.7611T>C	4.37:g.13600913A>G		688	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	37	CCDS3411.2																																																																																			BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207321.1		-	ENST00000040738.5	Silent	SNP	4 : 13600913 - 13600913 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	119	23
DDX56	54606	broad.mit.edu	37	7	44612246	44612246	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44612246C>T	ENST00000431640.1	-	4	510	c.481G>A	c.(481-483)Gag>Aag	p.E161K	DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000258772.5_Missense_Mutation_p.E161K			Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	161	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						ACCAAAAGCTCCAGGGAGTCA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	142	142			NA	NA	7		NA											NA				44612246		2203	4300	6503	SO:0001583	missense			AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271	54606	54606		DEAD-boxes	18193	protein-coding gene	gene with protein product	nucleolar helicase of 61 kDa	608023	DEAD (Asp-Glu-Ala-Asp) box polypeptide 56		NA	10749921	Standard	NM_019082	NM_019082	NA	Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000431640.1:c.481G>A	7.37:g.44612246C>T	ENSP00000393488:p.Glu161Lys	NA	A4D2K9|Q6IAE2|Q9H9I8	37	CCDS59053.1	.	.	.	.	.	.	.	.	.	.	.	17.97	3.518387	0.64634	.	.	ENSG00000136271	ENST00000258772;ENST00000431640	T;T	0.39056	1.1;1.1	5.48	5.48	0.80851	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.053895	0.64402	D	0.000001	T	0.24661	0.0598	N	0.05383	-0.06	0.54753	D	0.999987	B;B	0.33583	0.277;0.418	B;B	0.35278	0.159;0.199	T	0.10730	-1.0617	10	0.25106	T	0.35	-39.2328	12.9102	0.58175	0.0:0.8368:0.1632:0.0	.	161;161	C9JV95;Q9NY93	.;DDX56_HUMAN	K	161	ENSP00000258772:E161K;ENSP00000393488:E161K	ENSP00000258772:E161K	E	-	1	0	DDX56	44578771	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.681000	0.61663	2.746000	0.94184	0.655000	0.94253	GAG	DDX56-003	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339402.1		-	ENST00000431640.1	Missense_Mutation	SNP	7 : 44612246 - 44612246 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	733	127
ZNF615	284370	broad.mit.edu	37	19	52496964	52496964	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52496964G>A	ENST00000602063.1	-	6	1714	c.1365C>T	c.(1363-1365)ccC>ccT	p.P455P	ZNF615_ENST00000391795.3_Silent_p.P460P|ZNF615_ENST00000598071.1_Silent_p.P466P|ZNF615_ENST00000376716.5_Silent_p.P455P|ZNF615_ENST00000594083.1_Silent_p.P466P			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGCATACATAGGGTTTCTCTC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	81	87			NA	NA	19		NA											NA				52496964		2203	4300	6503	SO:0001819	synonymous_variant			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08					284370	284370		Zinc fingers, C2H2-type, -	24740	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_198480	NM_001199324	NA	Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1365C>T	19.37:g.52496964G>A		NA	B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	37	CCDS12846.1																																																																																			ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462391.1		-	ENST00000602063.1	Silent	SNP	19 : 52496964 - 52496964 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	59
GBP1	2633	broad.mit.edu	37	1	89520419	89520419	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89520419G>A	ENST00000370473.4	-	10	1830	c.1611C>T	c.(1609-1611)aaC>aaT	p.N537N	GBP1_ENST00000484970.1_5'UTR	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	537					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		GGACCCTGTCGTTCTCCATCT	0.423		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	304	305	304		1611	-2.8	0	1		304	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GBP1	NM_002053.2		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		537/593	89520419	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228	2633	2633			4182	protein-coding gene	gene with protein product		600411	guanylate binding protein 1, interferon-inducible, 67kDa		NA	7518790	Standard	NM_002053	NM_002053	NA	Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.1611C>T	1.37:g.89520419G>A		NA	D3DT26|Q5T8M1	37	CCDS718.1																																																																																			GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029289.3		-	ENST00000370473.4	Silent	SNP	1 : 89520419 - 89520419 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1658	85
AHNAK	79026	broad.mit.edu	37	11	62291340	62291340	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62291340G>T	ENST00000378024.4	-	5	10823	c.10549C>A	c.(10549-10551)Ctc>Atc	p.L3517I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3517					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCACATTGAGATCTGGGCCC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	107	106			NA	NA	11		NA											NA				62291340		2202	4299	6501	SO:0001583	missense			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942	79026	79026			347	protein-coding gene	gene with protein product	desmoyokin	103390	AHNAK nucleoprotein (desmoyokin)		NA	7987395, 12153988	Standard	NM_024060	NM_024060	NA	Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.10549C>A	11.37:g.62291340G>T	ENSP00000367263:p.Leu3517Ile	NA		37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	0.016	-1.538701	0.00942	.	.	ENSG00000124942	ENST00000378024	T	0.00642	6.02	4.81	-9.61	0.00550	.	.	.	.	.	T	0.00384	0.0012	N	0.04669	-0.19	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.49184	-0.8966	9	0.15499	T	0.54	.	13.4681	0.61268	0.0:0.5675:0.2339:0.1986	.	3517	Q09666	AHNK_HUMAN	I	3517	ENSP00000367263:L3517I	ENSP00000367263:L3517I	L	-	1	0	AHNAK	62047916	0.000000	0.05858	0.000000	0.03702	0.610000	0.37248	-3.861000	0.00348	-2.639000	0.00430	0.447000	0.29281	CTC	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395572.1		-	ENST00000378024.4	Missense_Mutation	SNP	11 : 62291340 - 62291340 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	591	167
MRPS15	64960	broad.mit.edu	37	1	36921477	36921477	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36921477G>T	ENST00000373116.5	-	8	847	c.686C>A	c.(685-687)gCt>gAt	p.A229D	MRPS15_ENST00000488606.1_5'UTR	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	229					translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGCTGCTGCAGCCTTTAAGGC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	118	120			NA	NA	1		NA											NA				36921477		2203	4300	6503	SO:0001583	missense			AB049946	CCDS411.1	1p34.3	2012-09-13			ENSG00000116898	ENSG00000116898	64960	64960		Mitochondrial ribosomal proteins / small subunits	14504	protein-coding gene	gene with protein product		611979			NA		Standard	NM_031280	NM_031280	NA	Approved	FLJ11564	uc001cas.2	P82914	OTTHUMG00000008042	ENST00000373116.5:c.686C>A	1.37:g.36921477G>T	ENSP00000362208:p.Ala229Asp	NA	B2RD82|Q9H2K1	37	CCDS411.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713210	0.68730	.	.	ENSG00000116898	ENST00000373116	.	.	.	5.47	4.51	0.55191	.	0.487586	0.21396	N	0.075224	T	0.50017	0.1591	M	0.64997	1.995	0.30780	N	0.742056	P	0.50066	0.931	P	0.45310	0.476	T	0.59815	-0.7383	9	0.56958	D	0.05	-13.38	13.6971	0.62587	0.0:0.0:0.8472:0.1528	.	229	P82914	RT15_HUMAN	D	229	.	ENSP00000362208:A229D	A	-	2	0	MRPS15	36694064	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	1.724000	0.38064	2.730000	0.93505	0.643000	0.83706	GCT	MRPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022052.2		-	ENST00000373116.5	Missense_Mutation	SNP	1 : 36921477 - 36921477 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	573	66
NTNG2	84628	broad.mit.edu	37	9	135073361	135073361	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135073361C>T	ENST00000393229.3	+	3	998	c.222C>T	c.(220-222)ccC>ccT	p.P74P	NTNG2_ENST00000372179.3_Silent_p.P74P|NTNG2_ENST00000360670.3_Silent_p.P74P|NTNG2_ENST00000393228.4_Silent_p.P74P	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	74	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		AGGAGAATCCCTACCTATGCA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	31	31			NA	NA	9		NA											NA				135073361		2203	4300	6503	SO:0001819	synonymous_variant			AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358	84628	84628		Netrins	14288	protein-coding gene	gene with protein product	Netrin-G2		netrin G1	NTNG1	NA		Standard	NM_032536	NM_032536	NA	Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.222C>T	9.37:g.135073361C>T		NA	Q5JUJ2|Q6UXY0|Q96JH0	37	CCDS6946.1																																																																																			NTNG2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054779.1		+	ENST00000393229.3	Silent	SNP	9 : 135073361 - 135073361 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	58
RAPGEF6	51735	broad.mit.edu	37	5	130766994	130766994	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130766994C>T	ENST00000507093.1	-	27	4228	c.4047G>A	c.(4045-4047)tcG>tcA	p.S1349S	RAPGEF6_ENST00000307984.5_Silent_p.S1354S|RAPGEF6_ENST00000509018.1_Silent_p.S1341S|CTC-432M15.3_ENST00000514667.1_Silent_p.S1391S|RAPGEF6_ENST00000296859.6_Silent_p.S1349S	NM_001164388.1	NP_001157860.1	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1341	Ser-rich.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TGCTCACAGACGATGAGACAG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(168;435 1955 13113 13877 23213)							NA				0													84	84	84			NA	NA	5		NA											NA				130766994		2203	4300	6503	SO:0001819	synonymous_variant			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987	51735	51735			20655	protein-coding gene	gene with protein product		610499	PDZ domain containing guanine nucleotide exchange factor (GEF) 2	PDZGEF2	NA	11524421, 12095257	Standard	NM_016340	NM_016340	NA	Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000507093.1:c.4047G>A	5.37:g.130766994C>T		NA	Q8NI21|Q8TEU6|Q96PC1	37	CCDS54899.1																																																																																			RAPGEF6-003	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370061.1		-	ENST00000507093.1	Silent	SNP	5 : 130766994 - 130766994 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	414	85
VAX1	11023	broad.mit.edu	37	10	118896084	118896084	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118896084C>A	ENST00000277905.2	-	2	572	c.328G>T	c.(328-330)Gag>Tag	p.E110*	VAX1_ENST00000369206.5_Nonsense_Mutation_p.E110*	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	110						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		TAGAGCTGCTCCGCGGTGAAG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	41	42			NA	NA	10		NA											NA				118896084		2202	4300	6502	SO:0001587	stop_gained			AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704	11023	11023		Homeoboxes / ANTP class : NKL subclass	12660	protein-coding gene	gene with protein product		604294			NA	9636075, 10485894	Standard	XM_301242	NM_199131	NA	Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117	ENST00000277905.2:c.328G>T	10.37:g.118896084C>A	ENSP00000277905:p.Glu110*	NA	B1AVW5|Q6ZSX0	37	CCDS7597.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908892	0.92107	.	.	ENSG00000148704	ENST00000277905;ENST00000369206	.	.	.	4.03	3.08	0.35506	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-6.2658	13.3785	0.60754	0.0:0.8404:0.1596:0.0	.	.	.	.	X	110	.	ENSP00000277905:E110X	E	-	1	0	VAX1	118886074	1.000000	0.71417	0.981000	0.43875	0.993000	0.82548	5.529000	0.67135	0.845000	0.35118	0.455000	0.32223	GAG	VAX1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280394.1		-	ENST00000277905.2	Nonsense_Mutation	SNP	10 : 118896084 - 118896084 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	352	74
UTP11L	51118	broad.mit.edu	37	1	38483358	38483358	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38483358A>C	ENST00000373014.4	+	3	205	c.144A>C	c.(142-144)caA>caC	p.Q48H	UTP11L_ENST00000488453.1_3'UTR|UTP11L_ENST00000537711.1_Missense_Mutation_p.Q48H	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein (yeast)	48					induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTAAAAAACAAGAATACCTCA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	65	62			NA	NA	1		NA											NA				38483358		2202	4300	6502	SO:0001583	missense			AF151852	CCDS429.1	1p34.3	2014-03-06	2014-03-06		ENSG00000183520	ENSG00000183520	51118	51118			24329	protein-coding gene	gene with protein product		609440			NA	11860508, 10810093	Standard	NM_016037	NM_016037	NA	Approved	CGI-94	uc001ccn.4	Q9Y3A2	OTTHUMG00000004435	ENST00000373014.4:c.144A>C	1.37:g.38483358A>C	ENSP00000362105:p.Gln48His	NA	A8K785|D3DPT7|Q5VT93|Q9BS98|Q9NS31	37	CCDS429.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.262537	0.59431	.	.	ENSG00000183520	ENST00000373014;ENST00000537711	.	.	.	5.95	-2.18	0.07037	.	0.050202	0.85682	D	0.000000	T	0.75273	0.3827	M	0.91300	3.195	0.51767	D	0.999934	D	0.54397	0.966	P	0.60345	0.873	T	0.74022	-0.3798	9	0.72032	D	0.01	-0.1329	7.7131	0.28690	0.3306:0.0:0.5414:0.128	.	48	Q9Y3A2	UTP11_HUMAN	H	48	.	ENSP00000362105:Q48H	Q	+	3	2	UTP11L	38255945	1.000000	0.71417	0.965000	0.40720	0.707000	0.40811	0.854000	0.27791	-0.624000	0.05611	-1.937000	0.00501	CAA	UTP11L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000012962.1		+	ENST00000373014.4	Missense_Mutation	SNP	1 : 38483358 - 38483358 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	244	31
MYRIP	25924	broad.mit.edu	37	3	40223778	40223778	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40223778C>T	ENST00000302541.6	+	9	1283	c.941C>T	c.(940-942)tCg>tTg	p.S314L	MYRIP_ENST00000425621.1_Missense_Mutation_p.S314L|MYRIP_ENST00000539167.1_Missense_Mutation_p.S127L|MYRIP_ENST00000396217.3_Missense_Mutation_p.S225L|MYRIP_ENST00000444716.1_Missense_Mutation_p.S314L|MYRIP_ENST00000459828.1_3'UTR	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	314	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GAGGCTCCATCGAGGCAGCCA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	76	76			NA	NA	3		NA											NA				40223778		2203	4300	6503	SO:0001583	missense			AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011	25924	25924		A-kinase anchor proteins	19156	protein-coding gene	gene with protein product	synaptotagmin-like protein homologue lacking C2 domains-c, rab effector MYRIP, Slp homologue lacking C2 domains	611790			NA	11964381, 12221080	Standard	NM_015460	NM_001284425	NA	Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.941C>T	3.37:g.40223778C>T	ENSP00000301972:p.Ser314Leu	NA	Q569F7|Q8IUF5|Q9Y3V4	37	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887910	0.33348	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	5.27	3.49	0.39957	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	1.047200	0.07557	N	0.916394	T	0.15262	0.0368	L	0.40543	1.245	0.09310	N	1	P;B;B	0.37781	0.608;0.335;0.386	B;B;B	0.27608	0.081;0.037;0.039	T	0.21245	-1.0251	9	.	.	.	.	7.2644	0.26222	0.0:0.426:0.46:0.114	.	225;314;314	Q32M42;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	L	314;314;314;225;127	ENSP00000398665:S314L;ENSP00000301972:S314L;ENSP00000389323:S314L;ENSP00000379519:S225L;ENSP00000438297:S127L	.	S	+	2	0	MYRIP	40198782	0.008000	0.16893	0.002000	0.10522	0.006000	0.05464	1.250000	0.32850	0.618000	0.30179	0.655000	0.94253	TCG	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254181.2		+	ENST00000302541.6	Missense_Mutation	SNP	3 : 40223778 - 40223778 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	505	92
KIF26B	55083	broad.mit.edu	37	1	245850027	245850027	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245850027G>A	ENST00000366518.4	+	9	2703	c.2599G>A	c.(2599-2601)Gtc>Atc	p.V867I	KIF26B_ENST00000407071.2_Missense_Mutation_p.V1248I			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1248					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CACGGCCCCCGTCTCCGAGGT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ILE/VAL	0,4304		0,0,2152	31	37	35		3742	5.8	0.8	1		35	1,8499		0,1,4249	no	missense	KIF26B	NM_018012.3	29	0,1,6401	AA,AG,GG	NA	0.0118,0.0,0.0078	possibly-damaging	1248/2109	245850027	1,12803	2152	4250	6402	SO:0001583	missense			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849	55083	55083		Kinesins	25484	protein-coding gene	gene with protein product		614026			NA		Standard	XM_371354	NM_018012	NA	Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000366518.4:c.2599G>A	1.37:g.245850027G>A	ENSP00000355475:p.Val867Ile	NA	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	37		.	.	.	.	.	.	.	.	.	.	G	12.48	1.950125	0.34377	0.0	1.18E-4	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.77358	-1.09;-1.09	5.77	5.77	0.91146	.	.	.	.	.	T	0.69878	0.3160	L	0.40543	1.245	0.38325	D	0.943622	B;B	0.33379	0.41;0.123	B;B	0.17098	0.017;0.013	T	0.70219	-0.4932	9	0.37606	T	0.19	.	19.9961	0.97386	0.0:0.0:1.0:0.0	.	867;1248	B7WPD9;Q2KJY2	.;KI26B_HUMAN	I	1248;867;864	ENSP00000385545:V1248I;ENSP00000355475:V867I	ENSP00000355475:V867I	V	+	1	0	KIF26B	243916650	1.000000	0.71417	0.777000	0.31699	0.274000	0.26718	5.310000	0.65780	2.744000	0.94065	0.561000	0.74099	GTC	KIF26B-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000096658.2		+	ENST00000366518.4	Missense_Mutation	SNP	1 : 245850027 - 245850027 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	150	35
THBS2	7058	broad.mit.edu	37	6	169632237	169632237	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:169632237C>T	ENST00000366787.3	-	14	2238	c.1989G>A	c.(1987-1989)gcG>gcA	p.A663A	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	663	EGF-like 3.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		AGATGCACTCCGCGTGCTTGT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(91;219 1934 18562 44706)							NA				0													192	171	178			NA	NA	6		NA											NA				169632237		2203	4300	6503	SO:0001819	synonymous_variant				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340	7058	7058			11786	protein-coding gene	gene with protein product		188061			NA	18455130	Standard	NM_003247	NM_003247	NA	Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.1989G>A	6.37:g.169632237C>T		NA	A6H8N1|A7E232|Q5RI52	37	CCDS34574.1																																																																																			THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000105439.1		-	ENST00000366787.3	Silent	SNP	6 : 169632237 - 169632237 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	739	146
PRDM2	7799	broad.mit.edu	37	1	14075893	14075893	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:14075893A>C	ENST00000235372.7	+	6	1278	c.422A>C	c.(421-423)aAt>aCt	p.N141T	PRDM2_ENST00000376048.5_Missense_Mutation_p.N141T|PRDM2_ENST00000311066.5_Missense_Mutation_p.N141T|PRDM2_ENST00000502727.1_3'UTR	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	141	SET.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GTCTGGTACAATGGGGAAGAC	0.667		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	1		NA											NA				14075893		2197	4291	6488	SO:0001583	missense			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731	7799	7799		Chromatin-modifying enzymes / K-methyltransferases	9347	protein-coding gene	gene with protein product	retinoblastoma protein-binding zinc finger protein, retinoblastoma protein-interacting zinc finger protein, MTE-binding protein, zinc-finger DNA-binding protein, GATA-3 binding protein G3B	601196			NA	7538672	Standard	NM_012231	NM_012231	NA	Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.422A>C	1.37:g.14075893A>C	ENSP00000235372:p.Asn141Thr	NA	Q13149|Q14550|Q5VUL9	37	CCDS150.1	.	.	.	.	.	.	.	.	.	.	a	14.81	2.646882	0.47258	.	.	ENSG00000116731	ENST00000484063;ENST00000376048;ENST00000235372;ENST00000311066;ENST00000400800	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	3.69	3.69	0.42338	SET domain (3);	0.117295	0.56097	D	0.000024	T	0.78246	0.4253	L	0.34521	1.04	0.44129	D	0.996916	B;B;B	0.28178	0.202;0.168;0.005	B;B;B	0.39771	0.309;0.205;0.021	T	0.75453	-0.3312	10	0.39692	T	0.17	.	10.6381	0.45577	1.0:0.0:0.0:0.0	.	141;141;141	Q13029;Q13029-2;B1AJZ4	PRDM2_HUMAN;.;.	T	132;141;141;141;141	ENSP00000423010:N132T;ENSP00000365216:N141T;ENSP00000235372:N141T;ENSP00000312352:N141T	ENSP00000235372:N141T	N	+	2	0	PRDM2	13948480	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.925000	0.56484	1.661000	0.50771	0.524000	0.50904	AAT	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021792.2		+	ENST00000235372.7	Missense_Mutation	SNP	1 : 14075893 - 14075893 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	132	23
CACNA1G	8913	broad.mit.edu	37	17	48677208	48677208	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48677208C>T	ENST00000352832.5	+	16	3981	c.3609C>T	c.(3607-3609)gaC>gaT	p.D1203D	CACNA1G_ENST00000513689.2_Silent_p.D1226D|CACNA1G_ENST00000514181.1_Silent_p.D1226D|CACNA1G_ENST00000512389.1_Silent_p.D1226D|CACNA1G_ENST00000510115.1_Silent_p.D1203D|CACNA1G_ENST00000513964.1_Silent_p.D1226D|CACNA1G_ENST00000507336.1_Silent_p.D1226D|CACNA1G_ENST00000507510.2_Silent_p.D1226D|CACNA1G_ENST00000514079.1_Silent_p.D1226D|CACNA1G_ENST00000507896.1_Silent_p.D1226D|CACNA1G_ENST00000507609.1_Silent_p.D1226D|CACNA1G_ENST00000502264.1_Silent_p.D1203D|CACNA1G_ENST00000442258.2_Silent_p.D1203D|CACNA1G_ENST00000358244.5_Silent_p.D1203D|CACNA1G_ENST00000360761.4_Silent_p.D1203D|CACNA1G_ENST00000359106.5_Silent_p.D1226D|CACNA1G_ENST00000515411.1_Silent_p.D1226D|CACNA1G_ENST00000514717.1_Silent_p.D1203D|CACNA1G_ENST00000505165.1_Silent_p.D1226D|CACNA1G_ENST00000510366.1_Silent_p.D1226D|CACNA1G_ENST00000429973.2_Silent_p.D1226D|CACNA1G_ENST00000503485.1_Silent_p.D1226D|CACNA1G_ENST00000515765.1_Silent_p.D1226D|CACNA1G_ENST00000515165.1_Silent_p.D1226D|CACNA1G_ENST00000416767.4_Silent_p.D1226D|CACNA1G_ENST00000354983.4_Silent_p.D1203D	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1226					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ACGCCGATGACGAGGGCAACC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	23	22			NA	NA	17		NA											NA				48677208		1998	4146	6144	SO:0001819	synonymous_variant			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283	8913	8913		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1394	protein-coding gene	gene with protein product		604065			NA	9495342, 16382099	Standard	NM_018896	NM_001256334	NA	Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000352832.5:c.3609C>T	17.37:g.48677208C>T		NA	O43498|O94770|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	37	CCDS45735.1																																																																																			CACNA1G-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367893.2		+	ENST00000352832.5	Silent	SNP	17 : 48677208 - 48677208 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	202	25
SYNRG	11276	broad.mit.edu	37	17	35913384	35913384	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35913384T>C	ENST00000394378.2	-	13	2232	c.2207A>G	c.(2206-2208)gAt>gGt	p.D736G	SYNRG_ENST00000346661.4_Missense_Mutation_p.D814G|SYNRG_ENST00000585472.1_Missense_Mutation_p.D735G|SYNRG_ENST00000591288.1_Missense_Mutation_p.D653G|SYNRG_ENST00000345615.4_Missense_Mutation_p.D736G|SYNRG_ENST00000502449.2_Missense_Mutation_p.D736G|SYNRG_ENST00000339208.6_Missense_Mutation_p.D814G	NM_198882.1	NP_942583.1	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	814	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGAAGGGAGATCTAAGGACTT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	123	126			NA	NA	17		NA											NA				35913384		2203	4300	6503	SO:0001583	missense			AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066	11276	11276			557	protein-coding gene	gene with protein product	gamma-synergin, adaptor-related protein complex 1 gamma subunit-binding protein 1	607291	AP1 gamma subunit binding protein 1	AP1GBP1	NA	10477754	Standard	NM_007247	XM_005256980	NA	Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000394378.2:c.2207A>G	17.37:g.35913384T>C	ENSP00000377903:p.Asp736Gly	NA	B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	37	CCDS54114.1	.	.	.	.	.	.	.	.	.	.	T	19.41	3.822171	0.71028	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T;T	0.65732	0.4;-0.17;-0.11	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.77219	0.4098	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;0.999	D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.998;0.998	T	0.79019	-0.1974	10	0.72032	D	0.01	-16.6853	15.7569	0.78037	0.0:0.0:0.0:1.0	.	653;736;736;736;814;814	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	G	814;653;814;736;736	ENSP00000005279:D814G;ENSP00000424893:D736G;ENSP00000377903:D736G	ENSP00000343610:D653G	D	-	2	0	SYNRG	32987497	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.655000	0.83696	2.371000	0.80710	0.533000	0.62120	GAT	SYNRG-008	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359433.1		-	ENST00000394378.2	Missense_Mutation	SNP	17 : 35913384 - 35913384 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	439	105
CTC1	80169	broad.mit.edu	37	17	8138511	8138511	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8138511G>T	ENST00000315684.8	-	8	1306	c.1299C>A	c.(1297-1299)agC>agA	p.S433R		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	433					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GACGAGAGAAGCTTTGAAGCA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	78	75			NA	NA	17		NA											NA				8138511		2057	4192	6249	SO:0001583	missense			AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971	80169	80169			26169	protein-coding gene	gene with protein product	conserved telomere maintenance component 1, alpha accessory factor 132, conserved telomere capping protein 1	613129	tmp494178, chromosome 17 open reading frame 68	C17orf68	NA	19854130, 19854131	Standard	NM_025099	NM_025099	NA	Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.1299C>A	17.37:g.8138511G>T	ENSP00000313759:p.Ser433Arg	NA	B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	37	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	g	8.108	0.778073	0.16120	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.83992	-1.79;-1.79	5.04	1.91	0.25777	.	0.493717	0.21165	N	0.079081	T	0.62258	0.2413	N	0.08118	0	0.22562	N	0.998983	B	0.19331	0.035	B	0.19391	0.025	T	0.49466	-0.8937	10	0.29301	T	0.29	-4.9976	5.7604	0.18196	0.0904:0.0:0.5656:0.344	.	433	Q2NKJ3	CTC1_HUMAN	R	433;398	ENSP00000313759:S433R;ENSP00000396018:S398R	ENSP00000313759:S433R	S	-	3	2	CTC1	8079236	0.037000	0.19845	0.363000	0.25875	0.105000	0.19272	0.534000	0.23098	0.291000	0.22468	0.598000	0.82781	AGC	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442012.1		-	ENST00000315684.8	Missense_Mutation	SNP	17 : 8138511 - 8138511 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	693	138
KIAA1109	84162	broad.mit.edu	37	4	123274089	123274089	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123274089C>T	ENST00000264501.4	+	81	14253	c.13880C>T	c.(13879-13881)cCt>cTt	p.P4627L	KIAA1109_ENST00000388738.3_Missense_Mutation_p.P4627L			Q2LD37	K1109_HUMAN	KIAA1109	4627					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CGACACTGGCCTGGAGTATTG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	153	155			NA	NA	4		NA											NA				123274089		2001	4184	6185	SO:0001583	missense			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688	84162	84162			26953	protein-coding gene	gene with protein product	fragile site-associated	611565			NA	16386706	Standard	NM_020797	NM_015312	NA	Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.13880C>T	4.37:g.123274089C>T	ENSP00000264501:p.Pro4627Leu	NA	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	37	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610370	0.87258	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707;ENST00000431755	T;T;T	0.43294	0.95;0.95;0.95	5.98	5.98	0.97165	Fragile site-associated protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.63355	0.2504	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.54957	-0.8215	10	0.33940	T	0.23	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	4626;4627	Q2LD37-4;Q2LD37	.;K1109_HUMAN	L	4627;4627;1296;228	ENSP00000264501:P4627L;ENSP00000373390:P4627L;ENSP00000410874:P1296L	ENSP00000264501:P4627L	P	+	2	0	KIAA1109	123493539	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.835000	0.97688	0.650000	0.86243	CCT	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316415.1		+	ENST00000264501.4	Missense_Mutation	SNP	4 : 123274089 - 123274089 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	468	104
FADS3	3995	broad.mit.edu	37	11	61644341	61644341	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61644341A>T	ENST00000527697.1	-	8	959	c.608T>A	c.(607-609)gTc>gAc	p.V203D	FADS3_ENST00000540820.1_Missense_Mutation_p.V327D|FADS3_ENST00000525588.1_Missense_Mutation_p.V299D|FADS3_ENST00000278829.2_Missense_Mutation_p.V327D			Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	327					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GCCATACCTGACAGCAACAAA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	64	67			NA	NA	11		NA											NA				61644341		2194	4296	6490	SO:0001583	missense				CCDS8013.1	11q12-q13.1	2013-01-25			ENSG00000221968	ENSG00000221968	3995	3995	1.14.19.3	Fatty acid desaturases	3576	protein-coding gene	gene with protein product	delta-9-desaturase	606150		LLCDL3	NA		Standard		NM_021727	NA	Approved	CYB5RP	uc001nsm.3	Q9Y5Q0	OTTHUMG00000167500	ENST00000527697.1:c.608T>A	11.37:g.61644341A>T	ENSP00000431533:p.Val203Asp	NA	O60426	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	26.2|26.2|26.2	4.713735|4.713735|4.713735	0.89112|0.89112|0.89112	.|.|.	.|.|.	ENSG00000221968|ENSG00000221968|ENSG00000221968	ENST00000525094|ENST00000527379|ENST00000527697;ENST00000278829;ENST00000540820;ENST00000525588	.|.|T;T;T;T	.|.|0.73469	.|.|-0.75;-0.75;-0.75;-0.75	5.4|5.4|5.4	5.4|5.4|5.4	0.78164|0.78164|0.78164	.|.|Fatty acid desaturase, type 1 (1);	.|.|.	.|.|.	.|.|.	.|.|.	.|D|D	.|0.88265|0.88265	.|0.6390|0.6390	M|M|M	0.93763|0.93763|0.93763	3.455|3.455|3.455	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|P;D	.|.|0.59357	.|.|0.915;0.985	.|.|D;D	.|.|0.69142	.|.|0.936;0.962	.|D|D	.|0.89161|0.89161	.|0.3530|0.3530	.|5|9	.|.|0.36615	.|.|T	.|.|0.2	.|.|.	12.8165|12.8165|12.8165	0.57669|0.57669|0.57669	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	.|.|203;327	.|.|E9PKP8;Q9Y5Q0	.|.|.;FADS3_HUMAN	X|T|D	1|102|203;327;327;299	.|.|ENSP00000431533:V203D;ENSP00000278829:V327D;ENSP00000439308:V327D;ENSP00000432206:V299D	.|.|ENSP00000278829:V327D	C|S|V	-|-|-	3|1|2	2|0|0	FADS3|FADS3|FADS3	61400917|61400917|61400917	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	7.444000|7.444000|7.444000	0.80532|0.80532|0.80532	2.046000|2.046000|2.046000	0.60703|0.60703|0.60703	0.448000|0.448000|0.448000	0.29417|0.29417|0.29417	TGT|TCA|GTC	FADS3-012	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000394834.1		-	ENST00000527697.1	Missense_Mutation	SNP	11 : 61644341 - 61644341 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	79	16
ABHD6	57406	broad.mit.edu	37	3	58252923	58252923	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58252923C>T	ENST00000478253.1	+	4	628	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	ABHD6_ENST00000295962.4_Missense_Mutation_p.R43W			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	43						integral to membrane	acylglycerol lipase activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		CAGGTACTGGCGGAGGACATT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	153	158			NA	NA	3		NA											NA				58252923		2203	4300	6503	SO:0001583	missense			AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686	57406	57406		Abhydrolase domain containing	21398	protein-coding gene	gene with protein product					NA		Standard	NM_020676	NM_020676	NA	Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.127C>T	3.37:g.58252923C>T	ENSP00000420315:p.Arg43Trp	NA	B2R7Y9|Q6ZMF7	37	CCDS2887.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088007	0.76642	.	.	ENSG00000163686	ENST00000478253;ENST00000295962;ENST00000511761;ENST00000463756;ENST00000485900	D;D;D;D	0.91237	-1.5;-1.5;-2.81;-2.81	5.27	4.39	0.52855	.	0.051922	0.85682	D	0.000000	D	0.94660	0.8278	M	0.73598	2.24	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.74674	0.913;0.984	D	0.95078	0.8210	10	0.87932	D	0	-24.8984	14.9548	0.71104	0.144:0.856:0.0:0.0	.	43;43	Q9BV23;F5H7L1	ABHD6_HUMAN;.	W	43	ENSP00000420315:R43W;ENSP00000295962:R43W;ENSP00000420408:R43W;ENSP00000418934:R43W	ENSP00000295962:R43W	R	+	1	2	ABHD6	58227963	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.755000	0.38379	1.202000	0.43218	0.555000	0.69702	CGG	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353511.1		+	ENST00000478253.1	Missense_Mutation	SNP	3 : 58252923 - 58252923 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	659	121
RBCK1	10616	broad.mit.edu	37	20	409726	409726	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:409726C>T	ENST00000356286.5	+	11	2145	c.1440C>T	c.(1438-1440)cgC>cgT	p.R480R	RBCK1_ENST00000382181.2_Silent_p.R310R|RBCK1_ENST00000353660.3_Silent_p.R438R	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	480					interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				AGGGCCCACGCTGGGGCCCTG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	39	37			NA	NA	20		NA											NA				409726		2203	4300	6503	SO:0001819	synonymous_variant			U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826	10616	10616		RING-type (C3HC4) zinc fingers, Zinc fingers, RAN-binding domain containing	15864	protein-coding gene	gene with protein product	heme-oxidized IRP2 ubiquitin ligase 1	610924	chromosome 20 open reading frame 18	C20orf18	NA		Standard	NM_031229	NM_031229	NA	Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.1440C>T	20.37:g.409726C>T		NA	O95623|Q86SL2|Q96BS3|Q9BYM9	37	CCDS13000.2																																																																																			RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077461.3		+	ENST00000356286.5	Silent	SNP	20 : 409726 - 409726 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	287	54
EBF3	253738	broad.mit.edu	37	10	131640509	131640509	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:131640509C>T	ENST00000368648.3	-	13	1288	c.1216G>A	c.(1216-1218)Gtt>Att	p.V406I	EBF3_ENST00000355311.5_Missense_Mutation_p.V415I	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	415					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TTGCGGGGAACGCTGTACAGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													206	171	183			NA	NA	10		NA											NA				131640509		2203	4300	6503	SO:0001583	missense				CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001	253738	253738			19087	protein-coding gene	gene with protein product		607407			NA	12355068	Standard	NM_001005463	NM_001005463	NA	Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000368648.3:c.1216G>A	10.37:g.131640509C>T	ENSP00000357637:p.Val406Ile	NA	A0AUY1|Q5T6H9|Q9H4W5	37	CCDS31314.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.531062	0.64972	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.52754	0.65;0.65	5.54	5.54	0.83059	.	0.111763	0.64402	D	0.000012	T	0.50137	0.1598	M	0.69823	2.125	0.53688	D	0.999971	B	0.30937	0.301	B	0.27170	0.077	T	0.46331	-0.9199	10	0.30078	T	0.28	-17.9183	19.8561	0.96761	0.0:1.0:0.0:0.0	.	406	Q9H4W6-2	.	I	415;406	ENSP00000347463:V415I;ENSP00000357637:V406I	ENSP00000347463:V415I	V	-	1	0	EBF3	131530499	1.000000	0.71417	0.971000	0.41717	0.838000	0.47535	6.018000	0.70811	2.776000	0.95493	0.650000	0.86243	GTT	EBF3-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051016.1		-	ENST00000368648.3	Missense_Mutation	SNP	10 : 131640509 - 131640509 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	860	23
HEPHL1	341208	broad.mit.edu	37	11	93808358	93808358	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93808358C>T	ENST00000315765.9	+	9	1531	c.1523C>T	c.(1522-1524)gCg>gTg	p.A508V		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	508	Plastocyanin-like 3.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AAACCAGGGGCGCATGTTAAA	0.463		NA											C	1	5e-04	NA	NA	2184	NA	0.9998	,	,	NA	2e-04	0.0013	NA	NA	5e-04	0.8415	LOWCOV	NA	NA	9e-04	SNP								NA				0													65	60	62			NA	NA	11		NA											NA				93808358		1947	4144	6091	SO:0001583	missense			BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333	341208	341208			30477	protein-coding gene	gene with protein product					NA		Standard	XM_291947	NM_001098672	NA	Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.1523C>T	11.37:g.93808358C>T	ENSP00000313699:p.Ala508Val	NA	Q3C1W7	37	CCDS44710.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	14.80	2.642441	0.47153	.	.	ENSG00000181333	ENST00000315765	D	0.99470	-5.96	5.46	5.46	0.80206	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.112238	0.64402	D	0.000014	D	0.98337	0.9448	L	0.56769	1.78	0.46954	D	0.999266	P	0.35872	0.525	B	0.32583	0.148	D	0.99968	1.1900	10	0.19590	T	0.45	.	19.3118	0.94189	0.0:1.0:0.0:0.0	.	508	Q6MZM0	HPHL1_HUMAN	V	508	ENSP00000313699:A508V	ENSP00000313699:A508V	A	+	2	0	HEPHL1	93448006	1.000000	0.71417	0.959000	0.39883	0.802000	0.45316	5.618000	0.67722	2.548000	0.85928	0.650000	0.86243	GCG	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396103.2		+	ENST00000315765.9	Missense_Mutation	SNP	11 : 93808358 - 93808358 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	127	22
TSC1	7248	broad.mit.edu	37	9	135778026	135778026	+	Missense_Mutation	SNP	C	C	T	rs118203683		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135778026C>T	ENST00000298552.3	-	18	2578	c.2357G>A	c.(2356-2358)cGa>cAa	p.R786Q	TSC1_ENST00000545250.1_Missense_Mutation_p.R735Q|TSC1_ENST00000440111.2_Missense_Mutation_p.R786Q	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	786					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GAATTCCTCTCGGTCATGCTG	0.527		NA	D, Mis, N, F, S			hamartoma, renal cell			Tuberous Sclerosis		OREG0019577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		E, O	1	Unknown(1)	bone(1)											238	211	220			NA	NA	9		NA											NA				135778026		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699	NA	7248			12362	protein-coding gene	gene with protein product		605284		TSC	NA	9242607, 10806479	Standard		NM_000368	NA	Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.2357G>A	9.37:g.135778026C>T	ENSP00000298552:p.Arg786Gln	1620	Q5VVN5	37	CCDS6956.1	.	.	.	.	.	.	.	.	.	.	C	33	5.248469	0.95305	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	D;D;T	0.82167	-1.58;-1.58;-1.4	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.85396	0.5687	N	0.20986	0.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.83316	-0.0020	10	0.26408	T	0.33	-10.967	18.4925	0.90853	0.0:1.0:0.0:0.0	.	735;786	B7Z897;Q92574	.;TSC1_HUMAN	Q	786;786;735	ENSP00000298552:R786Q;ENSP00000394524:R786Q;ENSP00000444017:R735Q	ENSP00000298552:R786Q	R	-	2	0	TSC1	134767847	1.000000	0.71417	0.982000	0.44146	0.981000	0.71138	4.560000	0.60802	2.607000	0.88179	0.561000	0.74099	CGA	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054799.1		-	ENST00000298552.3	Missense_Mutation	SNP	9 : 135778026 - 135778026 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	869	180
NUCB2	4925	broad.mit.edu	37	11	17316892	17316892	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17316892C>T	ENST00000529010.1	+	3	241	c.22C>T	c.(22-24)Cta>Tta	p.L8L	NUCB2_ENST00000323688.6_Silent_p.L8L|NUCB2_ENST00000458064.2_Silent_p.L8L	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2	8						cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GACCATCCTGCTACAGTATTG	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													301	278	285			NA	NA	11		NA											NA				17316892		1892	4121	6013	SO:0001819	synonymous_variant			AF052642	CCDS41623.1	11p15.1	2013-01-10					4925	4925		EF-hand domain containing	8044	protein-coding gene	gene with protein product		608020			NA	7811391	Standard	NM_005013	NM_005013	NA	Approved	NEFA	uc001mmw.3	P80303		ENST00000529010.1:c.22C>T	11.37:g.17316892C>T		NA	A8K642|Q8NFT5	37	CCDS41623.1																																																																																			NUCB2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387614.2		+	ENST00000529010.1	Silent	SNP	11 : 17316892 - 17316892 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	935	180
ADAM7	8756	broad.mit.edu	37	8	24342814	24342814	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24342814G>A	ENST00000520720.1	+	4	346	c.216G>A	c.(214-216)gtG>gtA	p.V72V	ADAM7_ENST00000175238.6_Silent_p.V300V|ADAM7_ENST00000380789.1_Silent_p.V300V|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA			Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	300					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.V300V(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ACTCACATGTGCAAGGAATTT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											153	147	149			NA	NA	8		NA											NA				24342814		2203	4300	6503	SO:0001819	synonymous_variant			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206	8756	8756		ADAM metallopeptidase domain containing	214	protein-coding gene	gene with protein product		607310	a disintegrin and metalloproteinase domain 7		NA		Standard	NM_003817	NM_003817	NA	Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000520720.1:c.216G>A	8.37:g.24342814G>A		NA	A8K8X7|O75959	37																																																																																				ADAM7-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000375719.3		+	ENST00000520720.1	Silent	SNP	8 : 24342814 - 24342814 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	687	103
HEMGN	55363	broad.mit.edu	37	9	100693016	100693016	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100693016C>A	ENST00000259456.3	-	4	804	c.661G>T	c.(661-663)Gat>Tat	p.D221Y		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	221					cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TTAGCCATATCTTGGTACATT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													263	254	257			NA	NA	9		NA											NA				100693016		2203	4300	6503	SO:0001583	missense			AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929	55363	55363			17509	protein-coding gene	gene with protein product		610715			NA		Standard	NM_197978	NM_018437	NA	Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.661G>T	9.37:g.100693016C>A	ENSP00000259456:p.Asp221Tyr	NA	Q6XAR3|Q86XY5|Q9NPC0	37	CCDS6731.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.736471	0.49045	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	4.82	1.93	0.25924	.	0.819333	0.10544	N	0.662314	T	0.41811	0.1175	L	0.58101	1.795	0.09310	N	1	P	0.41131	0.739	P	0.44394	0.448	T	0.32561	-0.9902	9	0.62326	D	0.03	-1.5525	4.9966	0.14243	0.0:0.6384:0.1729:0.1887	.	221	Q9BXL5	HEMGN_HUMAN	Y	221	.	ENSP00000259456:D221Y	D	-	1	0	HEMGN	99732837	0.001000	0.12720	0.000000	0.03702	0.028000	0.11728	0.222000	0.17699	0.337000	0.23665	0.655000	0.94253	GAT	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053344.2		-	ENST00000259456.3	Missense_Mutation	SNP	9 : 100693016 - 100693016 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1357	246
ADCK1	57143	broad.mit.edu	37	14	78390815	78390815	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78390815G>T	ENST00000238561.5	+	8	973	c.874G>T	c.(874-876)Ggc>Tgc	p.G292C	ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Missense_Mutation_p.G224C	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	299	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		ACGCCACCTGGGCAAGATGTA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	89	92			NA	NA	14		NA											NA				78390815		2203	4300	6503	SO:0001583	missense			AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30					57143	57143			19038	protein-coding gene	gene with protein product					NA	12471243	Standard	NM_020421	NM_020421	NA	Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.874G>T	14.37:g.78390815G>T	ENSP00000238561:p.Gly292Cys	NA	Q6PD65	37	CCDS9869.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986766	0.93106	.	.	ENSG00000063761	ENST00000238561;ENST00000557501;ENST00000341211	T;D;T	0.81739	1.57;-1.53;1.57	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.87553	0.6206	L	0.49699	1.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.993	D	0.85455	0.1163	10	0.36615	T	0.2	-19.8807	19.6876	0.95986	0.0:0.0:1.0:0.0	.	224;292	Q9UIE6;Q86TW2-2	.;.	C	292;253;224	ENSP00000238561:G292C;ENSP00000451549:G253C;ENSP00000339663:G224C	ENSP00000238561:G292C	G	+	1	0	ADCK1	77460568	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.665000	0.98609	2.659000	0.90383	0.655000	0.94253	GGC	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413864.1		+	ENST00000238561.5	Missense_Mutation	SNP	14 : 78390815 - 78390815 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	440	78
MACROD1	28992	broad.mit.edu	37	11	63782725	63782725	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63782725G>A	ENST00000255681.6	-	4	612	c.546C>T	c.(544-546)ggC>ggT	p.G182G		NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1	182	Macro.									breast(1)|large_intestine(3)|lung(6)|skin(1)	11						TCCACTCACCGCCACCGCCTC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	57	65			NA	NA	11		NA											NA				63782725		2198	4295	6493	SO:0001630	splice_region_variant			AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315	28992	28992			29598	protein-coding gene	gene with protein product		610400			NA	15691879	Standard	NM_014067	NM_014067	NA	Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.547+1C>T	11.37:g.63782725G>A		NA	Q9UH96	37	CCDS8056.1																																																																																			MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396570.1	Silent	-	ENST00000255681.6	Splice_Site	SNP	11 : 63782725 - 63782725 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	104	24
ASPRV1	151516	broad.mit.edu	37	2	70188262	70188262	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70188262C>T	ENST00000320256.4	-	1	1135	c.559G>A	c.(559-561)Gtc>Atc	p.V187I		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	187					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						TTGGCAAAGACGATCTCTTTG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	60	64	63		559	-1.8	1	2		63	1,8599	1.2+/-3.3	0,1,4299	no	missense	ASPRV1	NM_152792.2	29	0,2,6501	TT,TC,CC	NA	0.0116,0.0227,0.0154	benign	187/344	70188262	2,13004	2203	4300	6503	SO:0001583	missense			AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617	151516	151516			26321	protein-coding gene	gene with protein product	Skin ASpartic Protease	611765			NA	16098038, 16565508	Standard	NM_152792	NM_152792	NA	Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.559G>A	2.37:g.70188262C>T	ENSP00000315383:p.Val187Ile	NA	Q8N5P2|Q96LT3|Q96N43	37	CCDS1897.1	.	.	.	.	.	.	.	.	.	.	C	9.858	1.195561	0.22037	2.27E-4	1.16E-4	ENSG00000244617	ENST00000320256	T	0.49139	0.79	5.35	-1.79	0.07932	.	0.374473	0.18098	N	0.151771	T	0.26340	0.0643	L	0.27053	0.805	0.21782	N	0.999542	P	0.38504	0.634	B	0.25884	0.064	T	0.08534	-1.0717	10	0.36615	T	0.2	-15.2616	13.0216	0.58791	0.1264:0.2544:0.6192:0.0	.	187	Q53RT3	APRV1_HUMAN	I	187	ENSP00000315383:V187I	ENSP00000315383:V187I	V	-	1	0	ASPRV1	70041766	0.044000	0.20184	0.980000	0.43619	0.998000	0.95712	-1.908000	0.01587	-0.321000	0.08627	0.561000	0.74099	GTC	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334161.1		-	ENST00000320256.4	Missense_Mutation	SNP	2 : 70188262 - 70188262 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	477	80
WNT11	7481	broad.mit.edu	37	11	75907625	75907625	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75907625C>T	ENST00000322563.3	-	2	345	c.221G>A	c.(220-222)cGc>cAc	p.R74H		NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	74					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						CATGACCTCGCGGGCGGCGTG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	65	65			NA	NA	11		NA											NA				75907625		2200	4292	6492	SO:0001583	missense			Y12692	CCDS8242.1	11q13.5	2008-02-05			ENSG00000085741	ENSG00000085741	7481	7481		Wingless-type MMTV integration sites	12776	protein-coding gene	gene with protein product		603699			NA	9757009	Standard	NM_004626	NM_004626	NA	Approved		uc001oxe.3	O96014	OTTHUMG00000165264	ENST00000322563.3:c.221G>A	11.37:g.75907625C>T	ENSP00000325526:p.Arg74His	NA	B2R8Z6|Q14DE8|Q8WZ98	37	CCDS8242.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118971	0.37436	.	.	ENSG00000085741	ENST00000322563;ENST00000531317;ENST00000447195	T	0.76578	-1.03	5.06	5.06	0.68205	.	0.056202	0.64402	D	0.000001	T	0.70996	0.3288	L	0.45698	1.435	0.58432	D	0.999998	B	0.18863	0.031	B	0.18561	0.022	T	0.70048	-0.4979	10	0.72032	D	0.01	.	10.986	0.47523	0.0:0.9146:0.0:0.0854	.	74	O96014	WNT11_HUMAN	H	74	ENSP00000325526:R74H	ENSP00000325526:R74H	R	-	2	0	WNT11	75585273	0.999000	0.42202	0.883000	0.34634	0.010000	0.07245	4.081000	0.57627	2.334000	0.79466	0.655000	0.94253	CGC	WNT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383083.1		-	ENST00000322563.3	Missense_Mutation	SNP	11 : 75907625 - 75907625 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	581	107
HHIPL1	84439	broad.mit.edu	37	14	100119188	100119188	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100119188G>A	ENST00000330710.5	+	2	981	c.883G>A	c.(883-885)Gtg>Atg	p.V295M	HHIPL1_ENST00000357223.2_Missense_Mutation_p.V295M	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	295					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CGAGAACGCCGTGGACCACAG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	29	30	30		883,883	4.6	1	14		30	0,8600		0,0,4300	no	missense,missense	HHIPL1	NM_001127258.1,NM_032425.4	21,21	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	295/783,295/609	100119188	1,13005	2203	4300	6503	SO:0001583	missense			AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218	84439	84439			19710	protein-coding gene	gene with protein product			KIAA1822	KIAA1822	NA		Standard	XM_041566	NM_032425	NA	Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.883G>A	14.37:g.100119188G>A	ENSP00000330601:p.Val295Met	NA	A2RUF8|B2RN09|Q6UXX2	37	CCDS45162.1	.	.	.	.	.	.	.	.	.	.	g	17.28	3.350023	0.61183	2.27E-4	0.0	ENSG00000182218	ENST00000330710;ENST00000357223	T;T	0.12039	2.72;2.72	4.61	4.61	0.57282	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.079955	0.51477	D	0.000094	T	0.40145	0.1105	M	0.85462	2.755	0.47819	D	0.999523	D;D	0.76494	0.999;0.995	D;P	0.69654	0.965;0.898	T	0.44620	-0.9316	10	0.72032	D	0.01	.	14.0064	0.64465	0.0:0.0:0.8484:0.1516	.	295;295	Q96JK4;Q96JK4-2	HIPL1_HUMAN;.	M	295	ENSP00000330601:V295M;ENSP00000349757:V295M	ENSP00000330601:V295M	V	+	1	0	HHIPL1	99188941	1.000000	0.71417	0.994000	0.49952	0.887000	0.51463	3.063000	0.49978	2.106000	0.64143	0.563000	0.77884	GTG	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413811.1		+	ENST00000330710.5	Missense_Mutation	SNP	14 : 100119188 - 100119188 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	259	62
TBC1D31	93594	broad.mit.edu	37	8	124138748	124138748	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124138748C>A	ENST00000518805.1	+	7	728	c.604C>A	c.(604-606)Cta>Ata	p.L202I	TBC1D31_ENST00000287380.1_Splice_Site_p.L569I|TBC1D31_ENST00000522420.1_Splice_Site_p.L464I|TBC1D31_ENST00000309336.3_Splice_Site_p.L569I|TBC1D31_ENST00000378080.2_Splice_Site_p.L464I|TBC1D31_ENST00000327098.5_Splice_Site_p.L569I|TBC1D31_ENST00000521676.1_Splice_Site_p.L446I					TBC1 domain family, member 31	NA											NA						TCTGTTTTAGCTATATGCATG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	74	75			NA	NA	8		NA											NA				124138748		2203	4300	6503	SO:0001630	splice_region_variant			AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787	93594	93594		WD repeat domain containing	30888	protein-coding gene	gene with protein product			WD repeat domain 67	WDR67	NA	12477932	Standard	NM_145647	NM_001145088	NA	Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000518805.1:c.604-1C>A	8.37:g.124138748C>A		NA		37		.	.	.	.	.	.	.	.	.	.	C	6.664	0.491109	0.12702	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000327098;ENST00000522420;ENST00000521676;ENST00000378080;ENST00000518805	T;T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15;1.15	5.86	-1.32	0.09201	Rab-GAP/TBC domain (3);	0.340162	0.27227	N	0.020328	T	0.24547	0.0595	N	0.25380	0.74	0.33094	D	0.538346	B;B;B;B	0.24675	0.014;0.019;0.078;0.109	B;B;B;B	0.37422	0.047;0.089;0.056;0.249	T	0.28713	-1.0035	9	.	.	.	-7.2556	7.5353	0.27706	0.0:0.1795:0.3623:0.4581	.	569;569;464;569	B7ZL19;Q96DN5-2;E7ERK7;Q96DN5	.;.;.;WDR67_HUMAN	I	569;569;569;464;446;464;202	ENSP00000287380:L569I;ENSP00000308358:L569I;ENSP00000312701:L569I;ENSP00000429334:L464I;ENSP00000430628:L446I;ENSP00000367320:L464I;ENSP00000429494:L202I	.	L	+	1	2	WDR67	124207929	0.974000	0.33945	0.445000	0.26908	0.055000	0.15305	0.166000	0.16583	-0.130000	0.11599	0.650000	0.86243	CTA	TBC1D31-003	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000381732.1	Missense_Mutation	+	ENST00000518805.1	Splice_Site	SNP	8 : 124138748 - 124138748 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	264	20
MYBPC3	4607	broad.mit.edu	37	11	47360107	47360107	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47360107C>T	ENST00000545968.1	-	23	2326	c.2272G>A	c.(2272-2274)Ggc>Agc	p.G758S	MYBPC3_ENST00000399249.2_Missense_Mutation_p.G758S|MYBPC3_ENST00000256993.4_Missense_Mutation_p.G757S	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	757	Ig-like C2-type 5.		E -> D (in CMH4).		cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TGGTCCTCGCCCACAGGGTTC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	96	95			NA	NA	11		NA											NA				47360107		2100	4211	6311	SO:0001583	missense			X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571	4607	4607		Myosin binding proteins, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	7551	protein-coding gene	gene with protein product		600958	myosin-binding protein C, cardiac	CMH4	NA	7744002, 8358441	Standard		NM_000256	NA	Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.2272G>A	11.37:g.47360107C>T	ENSP00000442795:p.Gly758Ser	NA	Q16410|Q6R2F7|Q9UE27|Q9UM53	37	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	C	35	5.591283	0.96590	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	D;D;D	0.82711	-1.64;-1.64;-1.64	5.4	5.4	0.78164	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92328	0.7566	M	0.84683	2.71	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	D	0.93224	0.6611	9	0.87932	D	0	.	19.209	0.93747	0.0:1.0:0.0:0.0	.	757	Q14896	MYPC3_HUMAN	S	758;758;757	ENSP00000442795:G758S;ENSP00000382193:G758S;ENSP00000256993:G757S	ENSP00000256993:G757S	G	-	1	0	MYBPC3	47316683	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.469000	0.80959	2.536000	0.85505	0.563000	0.77884	GGC	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392271.3		-	ENST00000545968.1	Missense_Mutation	SNP	11 : 47360107 - 47360107 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	300	46
HEATR1	55127	broad.mit.edu	37	1	236744595	236744595	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236744595A>C	ENST00000366582.3	-	20	2796	c.2682T>G	c.(2680-2682)ctT>ctG	p.L894L	HEATR1_ENST00000366581.2_Silent_p.L894L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	894					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGCCCACATAAAGAGCTTGAG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	161	164			NA	NA	1		NA											NA				236744595		2203	4300	6503	SO:0001819	synonymous_variant			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285	55127	55127			25517	protein-coding gene	gene with protein product	UTP10, small subunit (SSU) processome component, homolog (yeast)				NA	17699751	Standard	XM_375853	NM_018072	NA	Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.2682T>G	1.37:g.236744595A>C		NA	Q5T3Q8|Q6P197|Q9NW23	37	CCDS31066.1																																																																																			HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096635.1		-	ENST00000366582.3	Silent	SNP	1 : 236744595 - 236744595 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	847	237
RTN4	57142	broad.mit.edu	37	2	55252338	55252338	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55252338C>T	ENST00000337526.6	-	3	3140	c.2897G>A	c.(2896-2898)aGc>aAc	p.S966N	RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.S760N|RTN4_ENST00000357376.3_Missense_Mutation_p.S760N|RTN4_ENST00000354474.6_Missense_Mutation_p.S734N|RTN4_ENST00000405240.1_Missense_Mutation_p.S760N|RTN4_ENST00000404909.1_Missense_Mutation_p.S760N	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	966					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TTTAACTATGCTCTCTATCTC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	137	137			NA	NA	2		NA											NA				55252338		2203	4300	6503	SO:0001583	missense			AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310	57142	57142			14085	protein-coding gene	gene with protein product		604475			NA	10667797, 10773680	Standard		NM_020532	NA	Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.2897G>A	2.37:g.55252338C>T	ENSP00000337838:p.Ser966Asn	NA	O94962|Q7L7Q8|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	37	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	C	7.147	0.583026	0.13749	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.20738	2.05;2.05;2.06;2.05;2.05;2.07	5.7	4.81	0.61882	.	5.311810	0.00166	N	0.000000	T	0.28200	0.0696	M	0.64997	1.995	0.21355	N	0.999716	B	0.09022	0.002	B	0.09377	0.004	T	0.40627	-0.9553	10	0.22109	T	0.4	-0.0342	10.6257	0.45506	0.0:0.7981:0.1317:0.0702	.	966	Q9NQC3	RTN4_HUMAN	N	760;760;966;760;760;734	ENSP00000384471:S760N;ENSP00000349944:S760N;ENSP00000337838:S966N;ENSP00000378109:S760N;ENSP00000385650:S760N;ENSP00000346465:S734N	ENSP00000337838:S966N	S	-	2	0	RTN4	55105842	0.939000	0.31865	0.316000	0.25252	0.007000	0.05969	1.391000	0.34475	1.370000	0.46153	0.655000	0.94253	AGC	RTN4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251484.1		-	ENST00000337526.6	Missense_Mutation	SNP	2 : 55252338 - 55252338 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	563	44
HABP4	22927	broad.mit.edu	37	9	99220689	99220689	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99220689G>T	ENST00000375249.4	+	2	453	c.378G>T	c.(376-378)gaG>gaT	p.E126D	HABP4_ENST00000375251.3_Missense_Mutation_p.E126D	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN	hyaluronan binding protein 4	126					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding			NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				GAAGAGGGGAGCAGCAAGGAT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	102	101			NA	NA	9		NA											NA				99220689		2203	4300	6503	SO:0001583	missense			AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956	22927	22927			17062	protein-coding gene	gene with protein product					NA	9523163, 10887182	Standard	NM_014282	XM_005251812	NA	Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.378G>T	9.37:g.99220689G>T	ENSP00000364398:p.Glu126Asp	NA	O75804|Q8WV33|Q9NYJ2	37	CCDS6719.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380545	0.42207	.	.	ENSG00000130956	ENST00000375251;ENST00000375249	T;T	0.35973	1.28;1.47	4.58	4.58	0.56647	.	0.428708	0.25329	N	0.031444	T	0.39009	0.1062	L	0.31476	0.935	0.35363	D	0.78836	D;D	0.69078	0.996;0.997	D;D	0.75484	0.986;0.978	T	0.43605	-0.9381	10	0.17369	T	0.5	-14.568	5.418	0.16384	0.2457:0.0:0.7543:0.0	.	126;126	Q5JVS0-2;Q5JVS0	.;HABP4_HUMAN	D	126	ENSP00000364400:E126D;ENSP00000364398:E126D	ENSP00000364398:E126D	E	+	3	2	HABP4	98260510	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.657000	0.37366	2.375000	0.81037	0.563000	0.77884	GAG	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053269.1		+	ENST00000375249.4	Missense_Mutation	SNP	9 : 99220689 - 99220689 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	596	16
NMUR2	56923	broad.mit.edu	37	5	151771975	151771975	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151771975A>C	ENST00000255262.3	-	4	1190	c.1025T>G	c.(1024-1026)aTc>aGc	p.I342S		NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	342					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GAAAGAAGAGATCACATTCTG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	132	135			NA	NA	5		NA											NA				151771975		2203	4300	6503	SO:0001583	missense			AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911	56923	56923		GPCR / Class A : Neuromedin U receptors	16454	protein-coding gene	gene with protein product		605108		NMU2R	NA	8940772, 10894543	Standard	NM_020167	NM_020167	NA	Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.1025T>G	5.37:g.151771975A>C	ENSP00000255262:p.Ile342Ser	NA	Q7LC54|Q96AM5|Q9NRA6	37	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	A	8.584	0.883000	0.17467	.	.	ENSG00000132911	ENST00000255262	T	0.39056	1.1	4.79	3.61	0.41365	.	0.209202	0.33005	N	0.005396	T	0.39145	0.1067	L	0.56769	1.78	0.38254	D	0.941691	B	0.17465	0.022	B	0.10450	0.005	T	0.39035	-0.9633	10	0.87932	D	0	-24.3878	10.7901	0.46428	0.8405:0.1595:0.0:0.0	.	342	Q9GZQ4	NMUR2_HUMAN	S	342	ENSP00000255262:I342S	ENSP00000255262:I342S	I	-	2	0	NMUR2	151752168	1.000000	0.71417	0.818000	0.32626	0.118000	0.20060	3.330000	0.52068	0.771000	0.33359	-0.644000	0.03951	ATC	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252439.1		-	ENST00000255262.3	Missense_Mutation	SNP	5 : 151771975 - 151771975 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	659	136
CCNA1	8900	broad.mit.edu	37	13	37014291	37014291	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37014291G>A	ENST00000255465.4	+	6	1333	c.1069G>A	c.(1069-1071)Gtg>Atg	p.V357M	CCNA1_ENST00000449823.1_Missense_Mutation_p.V313M|CCNA1_ENST00000440264.1_Missense_Mutation_p.V313M|CCNA1_ENST00000418263.1_Missense_Mutation_p.V356M			P78396	CCNA1_HUMAN	cyclin A1	357					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		GCGACAAGGAGTGTGCGTCAG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	138	139			NA	NA	13		NA											NA				37014291		2203	4300	6503	SO:0001583	missense			U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101	8900	8900			1577	protein-coding gene	gene with protein product		604036			NA	9041194	Standard	NM_003914	NM_003914	NA	Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.1069G>A	13.37:g.37014291G>A	ENSP00000255465:p.Val357Met	NA	Q5T3V0|Q5U0G2|Q8IY91	37	CCDS9357.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594595	0.66219	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	6.03	6.03	0.97812	Cyclin, C-terminal (1);Cyclin-like (3);	0.165896	0.53938	D	0.000060	T	0.37999	0.1024	L	0.58354	1.805	0.53688	D	0.999974	P;P	0.40602	0.723;0.588	P;P	0.47915	0.561;0.472	T	0.03394	-1.1041	10	0.54805	T	0.06	.	15.6123	0.76737	0.067:0.0:0.933:0.0	.	356;357	P78396-2;P78396	.;CCNA1_HUMAN	M	313;313;356;357	ENSP00000400666:V313M;ENSP00000409873:V313M;ENSP00000396479:V356M;ENSP00000255465:V357M	ENSP00000255465:V357M	V	+	1	0	CCNA1	35912291	1.000000	0.71417	0.952000	0.39060	0.674000	0.39518	5.364000	0.66110	2.868000	0.98415	0.555000	0.69702	GTG	CCNA1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044514.2		+	ENST00000255465.4	Missense_Mutation	SNP	13 : 37014291 - 37014291 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	667	90
SEL1L3	23231	broad.mit.edu	37	4	25831741	25831741	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25831741C>T	ENST00000399878.3	-	6	1258	c.1136G>A	c.(1135-1137)aGc>aAc	p.S379N	SEL1L3_ENST00000502949.1_Missense_Mutation_p.S226N|SEL1L3_ENST00000264868.5_Missense_Mutation_p.S344N	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	379						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ATTGTGGTAGCTTTTCAAATC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	124	127			NA	NA	4		NA											NA				25831741		1906	4125	6031	SO:0001583	missense			BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490	23231	23231			29108	protein-coding gene	gene with protein product	KIAA0746 protein				NA	9872452	Standard	NM_015187	XM_005248143	NA	Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.1136G>A	4.37:g.25831741C>T	ENSP00000382767:p.Ser379Asn	NA	A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	37	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	C	8.288	0.817053	0.16607	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.22336	1.96;1.96;1.96	5.51	3.7	0.42460	.	0.608051	0.19394	N	0.115339	T	0.11793	0.0287	N	0.22421	0.69	0.22903	N	0.998582	B	0.09022	0.002	B	0.04013	0.001	T	0.33879	-0.9851	10	0.16896	T	0.51	-2.3838	6.5098	0.22216	0.0:0.7152:0.1836:0.1012	.	379	Q68CR1	SE1L3_HUMAN	N	379;344;226	ENSP00000382767:S379N;ENSP00000264868:S344N;ENSP00000425438:S226N	ENSP00000264868:S344N	S	-	2	0	SEL1L3	25440839	0.983000	0.35010	0.431000	0.26735	0.319000	0.28217	1.330000	0.33781	0.611000	0.30052	0.655000	0.94253	AGC	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360261.1		-	ENST00000399878.3	Missense_Mutation	SNP	4 : 25831741 - 25831741 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	102	20
NOS3	4846	broad.mit.edu	37	7	150695754	150695754	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150695754G>A	ENST00000484524.1	+	6	802	c.802G>A	c.(802-804)Gtg>Atg	p.V268M	NOS3_ENST00000467517.1_Missense_Mutation_p.V268M|NOS3_ENST00000297494.3_Missense_Mutation_p.V268M|NOS3_ENST00000461406.1_Missense_Mutation_p.V62M	NM_001160111.1	NP_001153583.1	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	268	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CCCAGCCAACGTGGAGATCAC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	13	13			NA	NA	7		NA											NA				150695754		2178	4268	6446	SO:0001583	missense				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	4846	4846	1.14.13.39		7876	protein-coding gene	gene with protein product	endothelial nitric oxide synthase	163729			NA	1379542	Standard	NM_000603	NM_000603	NA	Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.802G>A	7.37:g.150695754G>A	ENSP00000420215:p.Val268Met	NA	A8KA63|B2RCQ1|Q13662|Q14251|Q14434|Q548C1|Q6GSL5|Q9UDC6	37	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	g	21.8	4.198993	0.79015	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	5.13	5.13	0.70059	Nitric oxide synthase, oxygenase domain (2);	0.111909	0.37857	N	0.001908	T	0.58892	0.2154	M	0.86805	2.84	0.48975	D	0.999739	D;D;D;D;D	0.64830	0.987;0.987;0.987;0.984;0.994	P;P;P;P;P	0.54499	0.689;0.689;0.754;0.636;0.638	T	0.67845	-0.5565	10	0.72032	D	0.01	-12.9524	16.4458	0.83932	0.0:0.0:1.0:0.0	.	268;268;268;62;268	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	M	268;62;268;268	ENSP00000297494:V268M;ENSP00000417143:V62M;ENSP00000420215:V268M;ENSP00000420551:V268M	ENSP00000297494:V268M	V	+	1	0	NOS3	150326687	1.000000	0.71417	0.999000	0.59377	0.560000	0.35617	5.725000	0.68507	2.548000	0.85928	0.637000	0.83480	GTG	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351550.1		+	ENST00000484524.1	Missense_Mutation	SNP	7 : 150695754 - 150695754 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	88	9
NSD1	64324	broad.mit.edu	37	5	176722104	176722104	+	Nonsense_Mutation	SNP	C	C	T	rs142579918	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176722104C>T	ENST00000439151.2	+	23	7780	c.7735C>T	c.(7735-7737)Cag>Tag	p.Q2579*	NSD1_ENST00000354179.4_Nonsense_Mutation_p.Q2310*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.Q2476*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.Q2310*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2579				PGPLSQSPGLVKQAKQMVGGQQLPA -> QGFFTKSPALVE NKGKTKWVGRPTNYLH (in Ref. 3; AAK92049).	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCTGGTGAAGCAGGCGAAGCA	0.607		NA	T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													36	36	36			NA	NA	5		NA											NA				176722104		2203	4300	6503	SO:0001587	stop_gained	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671	64324	64324		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	14234	protein-coding gene	gene with protein product		606681	Sotos syndrome	STO	NA	9628876, 11896389	Standard	NM_172349	NM_022455	NA	Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.7735C>T	5.37:g.176722104C>T	ENSP00000395929:p.Gln2579*	NA	Q96PD8|Q96RN7	37	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	42	9.414138	0.99164	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	3.1	3.1	0.35709	.	0.288101	0.25250	N	0.032027	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	13.6065	0.62050	0.0:1.0:0.0:0.0	.	.	.	.	X	2310;2579;2310;2476	.	ENSP00000343209:Q2310X	Q	+	1	0	NSD1	176654710	0.681000	0.27614	1.000000	0.80357	0.231000	0.25187	1.008000	0.29872	2.070000	0.61991	0.462000	0.41574	CAG	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253412.2		+	ENST00000439151.2	Nonsense_Mutation	SNP	5 : 176722104 - 176722104 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	257	82
OSGIN2	734	broad.mit.edu	37	8	90921949	90921949	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:90921949G>T	ENST00000451899.2	+	2	459	c.199G>T	c.(199-201)Gga>Tga	p.G67*	OSGIN2_ENST00000520659.1_Splice_Site_p.G67*|OSGIN2_ENST00000297438.2_Splice_Site_p.G23*	NM_001126111.1	NP_001119583.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	23					germ cell development|meiosis					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GGTAATAATAGGTAAGTTATT	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	69	69			NA	NA	8		NA											NA				90921949		2203	4300	6503	SO:0001630	splice_region_variant			AF061326	CCDS6248.1, CCDS47888.1	8q21	2006-10-05	2006-10-05	2006-10-05	ENSG00000164823	ENSG00000164823	734	734			1355	protein-coding gene	gene with protein product		604598	chromosome 8 open reading frame 1	C8orf1	NA	9933573	Standard	NM_004337	NM_004337	NA	Approved	hT41	uc003yeh.3	Q9Y236	OTTHUMG00000163811	ENST00000451899.2:c.199+1G>T	8.37:g.90921949G>T		NA		37	CCDS47888.1	.	.	.	.	.	.	.	.	.	.	G	35	5.461587	0.96240	.	.	ENSG00000164823	ENST00000297438;ENST00000451899;ENST00000520659	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.8444	16.9813	0.86328	0.0:0.0:1.0:0.0	.	.	.	.	X	23;67;67	.	ENSP00000297438:G23X	G	+	1	0	OSGIN2	90991123	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.240000	0.89813	2.430000	0.82344	0.462000	0.41574	GGA	OSGIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375692.1	Nonsense_Mutation	+	ENST00000451899.2	Splice_Site	SNP	8 : 90921949 - 90921949 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	222	22
ZNF829	374899	broad.mit.edu	37	19	37382697	37382697	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37382697G>T	ENST00000520965.1	-	6	1305	c.1239C>A	c.(1237-1239)gcC>gcA	p.A413A	ZNF829_ENST00000391711.3_Silent_p.A332A|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACTATTAAAGGCCTTCCCAC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	75	74			NA	NA	19		NA											NA				37382697		2198	4300	6498	SO:0001819	synonymous_variant			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869	374899	374899		Zinc fingers, C2H2-type, -	34032	protein-coding gene	gene with protein product					NA		Standard	NM_001037232	NM_001037232	NA	Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000520965.1:c.1239C>A	19.37:g.37382697G>T		NA	Q3KNS7|Q6ZNN0|Q7Z657	37	CCDS59380.1																																																																																			ZNF829-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375749.2		-	ENST00000520965.1	Silent	SNP	19 : 37382697 - 37382697 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	259	45
PGAM1	5223	broad.mit.edu	37	10	99190716	99190716	+	Missense_Mutation	SNP	G	G	A	rs138208659	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99190716G>A	ENST00000334828.5	+	3	567	c.419G>A	c.(418-420)cGc>cAc	p.R140H	PGAM1_ENST00000467867.1_3'UTR	NM_002629.2	NP_002620.1	P18669	PGAM1_HUMAN	phosphoglycerate mutase 1 (brain)	140					gluconeogenesis|glycolysis|regulation of glycolysis|regulation of pentose-phosphate shunt|respiratory burst	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity|protein kinase binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(252;0.162)		Epithelial(162;8.36e-10)|all cancers(201;5.62e-08)		GCTTAGGATCGCAGGTATGCA	0.428		NA											G	2	9e-04	0.0041	NA	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	8e-04	0.931	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0													104	104	104			NA	NA	10		NA											NA				99190716		2203	4300	6503	SO:0001583	missense			BC010038	CCDS7458.1	10q25.3	2012-10-02			ENSG00000171314	ENSG00000171314	5223	5223	5.4.2.1		8888	protein-coding gene	gene with protein product	Phosphoglycerate mutase A, nonmuscle form	172250		PGAMA	NA	2846553	Standard	NM_002629	NM_002629	NA	Approved	PGAM-B	uc001knh.3	P18669	OTTHUMG00000018846	ENST00000334828.5:c.419G>A	10.37:g.99190716G>A	ENSP00000359991:p.Arg140His	NA	Q9BWC0	37	CCDS7458.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	14.44	2.535006	0.45073	.	.	ENSG00000171314	ENST00000334828;ENST00000425387	T	0.80214	-1.35	5.13	5.13	0.70059	Histidine phosphatase superfamily, clade-1 (2);	0.000000	0.85682	D	0.000000	D	0.82430	0.5035	M	0.78637	2.42	0.80722	D	1	B;B	0.18741	0.03;0.001	B;B	0.17979	0.02;0.003	T	0.80476	-0.1366	10	0.62326	D	0.03	-0.6606	18.928	0.92553	0.0:0.0:1.0:0.0	.	125;140	B4DKL5;P18669	.;PGAM1_HUMAN	H	140;30	ENSP00000359991:R140H	ENSP00000359991:R140H	R	+	2	0	PGAM1	99180706	1.000000	0.71417	0.999000	0.59377	0.729000	0.41735	9.622000	0.98378	2.549000	0.85964	0.561000	0.74099	CGC	PGAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049652.1		+	ENST00000334828.5	Missense_Mutation	SNP	10 : 99190716 - 99190716 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	370	57
FGL1	2267	broad.mit.edu	37	8	17726143	17726143	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17726143T>G	ENST00000398056.2	-	9	1508	c.693A>C	c.(691-693)agA>agC	p.R231S	FGL1_ENST00000381841.2_Missense_Mutation_p.R231S|FGL1_ENST00000518650.1_Missense_Mutation_p.R231S|FGL1_ENST00000381840.2_Missense_Mutation_p.R231S|FGL1_ENST00000427924.1_Missense_Mutation_p.R231S|FGL1_ENST00000398054.1_Missense_Mutation_p.R231S|FGL1_ENST00000522444.1_Missense_Mutation_p.R231S			Q08830	FGL1_HUMAN	fibrinogen-like 1	231	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		TGAATTTCATTCTTTGGTGAC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	143	148			NA	NA	8		NA											NA				17726143		2203	4300	6503	SO:0001583	missense			D14446	CCDS6004.1	8p22	2013-02-06			ENSG00000104760	ENSG00000104760	2267	2267		Fibrinogen C domain containing	3695	protein-coding gene	gene with protein product		605776			NA	8390249	Standard	NM_004467	NM_004467	NA	Approved	HFREP-1	uc003wyb.3	Q08830	OTTHUMG00000096989	ENST00000398056.2:c.693A>C	8.37:g.17726143T>G	ENSP00000381133:p.Arg231Ser	NA	A6NKU4|Q4PJH9|Q53YF1|Q96KW6|Q96QM6	37	CCDS6004.1	.	.	.	.	.	.	.	.	.	.	T	14.56	2.573112	0.45902	.	.	ENSG00000104760	ENST00000221204;ENST00000398056;ENST00000521427;ENST00000522444;ENST00000381841;ENST00000427924;ENST00000398054;ENST00000381840;ENST00000518650	T;T;T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13;2.13;2.13	4.57	-1.8	0.07907	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.146424	0.64402	D	0.000012	T	0.09949	0.0244	N	0.11724	0.165	0.30491	N	0.771345	B;B;B	0.29212	0.237;0.166;0.016	B;B;B	0.34590	0.186;0.096;0.011	T	0.12502	-1.0545	10	0.44086	T	0.13	.	5.089	0.14698	0.1293:0.3438:0.0:0.5269	.	201;231;231	E7ERS0;Q8NG32;Q08830	.;.;FGL1_HUMAN	S	231;231;201;231;231;231;231;231;231	ENSP00000381133:R231S;ENSP00000429757:R231S;ENSP00000371263:R231S;ENSP00000401952:R231S;ENSP00000381131:R231S;ENSP00000371262:R231S;ENSP00000428430:R231S	ENSP00000221204:R231S	R	-	3	2	FGL1	17770423	0.994000	0.37717	0.946000	0.38457	0.905000	0.53344	0.305000	0.19254	-0.369000	0.08028	0.477000	0.44152	AGA	FGL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375254.1		-	ENST00000398056.2	Missense_Mutation	SNP	8 : 17726143 - 17726143 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	821	150
CCDC170	80129	broad.mit.edu	37	6	151907104	151907104	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151907104C>T	ENST00000239374.7	+	7	1272	c.1173C>T	c.(1171-1173)ctC>ctT	p.L391L	CCDC170_ENST00000367290.5_Silent_p.L391L	NM_025059.3	NP_079335.2	Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	391											NA						AGAAAGCTCTCCAGAGGGCCC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	60	61			NA	NA	6		NA											NA				151907104		1878	4118	5996	SO:0001819	synonymous_variant			AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262	80129	80129			21177	protein-coding gene	gene with protein product			chromosome 6 open reading frame 97	C6orf97	NA		Standard	NM_025059	NM_025059	NA	Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1173C>T	6.37:g.151907104C>T		NA	Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	37	CCDS43515.1																																																																																			CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042727.2		+	ENST00000239374.7	Silent	SNP	6 : 151907104 - 151907104 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	140	36
CENPF	1063	broad.mit.edu	37	1	214815450	214815450	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214815450G>T	ENST00000366955.3	+	12	3937	c.3769G>T	c.(3769-3771)Gaa>Taa	p.E1257*		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1338					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GCAGTCACAAGAAATTAGTGG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(80;575 1284 11000 14801 43496)							NA				0													49	49	49			NA	NA	1		NA											NA				214815450		2203	4300	6503	SO:0001587	stop_gained			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724	1063	1063			1857	protein-coding gene	gene with protein product	mitosin	600236	centromere protein F, 350/400kDa (mitosin)		NA	7904902, 7851898	Standard	NM_016343	NM_016343	NA	Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.3769G>T	1.37:g.214815450G>T	ENSP00000355922:p.Glu1257*	NA	Q13171|Q13246|Q5VVM7	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	41	8.554706	0.98861	.	.	ENSG00000117724	ENST00000366955	.	.	.	5.16	5.16	0.70880	.	0.195742	0.25313	N	0.031574	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	11.3469	0.49565	0.0836:0.0:0.9164:0.0	.	.	.	.	X	1257	.	ENSP00000355922:E1257X	E	+	1	0	CENPF	212882073	0.660000	0.27420	0.877000	0.34402	0.312000	0.27988	2.472000	0.45136	2.414000	0.81942	0.511000	0.50034	GAA	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089749.1		+	ENST00000366955.3	Nonsense_Mutation	SNP	1 : 214815450 - 214815450 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	395	58
B4GALNT4	338707	broad.mit.edu	37	11	380400	380400	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:380400G>A	ENST00000329962.6	+	18	2824	c.2824G>A	c.(2824-2826)Gtg>Atg	p.V942M		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	942				V -> M (in Ref. 2; BAB71566).		Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTTCGCGCCCGTGGTCATGCG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	36	40			NA	NA	11		NA											NA				380400		2203	4296	6499	SO:0001583	missense			AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	338707	338707	2.4.1.-	Beta 4-glycosyltransferases	26315	protein-coding gene	gene with protein product					NA	15044014	Standard	NM_178537	NM_178537	NA	Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.2824G>A	11.37:g.380400G>A	ENSP00000328277:p.Val942Met	NA	Q96LV2	37	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	g	9.285	1.049146	0.19827	.	.	ENSG00000182272	ENST00000329962	T	0.20332	2.08	3.81	3.81	0.43845	.	0.060502	0.64402	D	0.000008	T	0.09379	0.0231	N	0.12182	0.205	0.37812	D	0.928063	P	0.41524	0.753	B	0.40477	0.33	T	0.17137	-1.0379	10	0.12430	T	0.62	-32.6499	4.8054	0.13317	0.2853:0.0:0.7147:0.0	.	942	Q76KP1	B4GN4_HUMAN	M	942	ENSP00000328277:V942M	ENSP00000328277:V942M	V	+	1	0	B4GALNT4	370400	1.000000	0.71417	0.915000	0.36163	0.751000	0.42716	5.998000	0.70653	2.118000	0.64928	0.561000	0.74099	GTG	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239289.2		+	ENST00000329962.6	Missense_Mutation	SNP	11 : 380400 - 380400 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	182	44
GPR133	283383	broad.mit.edu	37	12	131622691	131622691	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:131622691G>A	ENST00000376682.4	+	16	1759	c.1504G>A	c.(1504-1506)Gcc>Acc	p.A502T	GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000535015.1_Missense_Mutation_p.A848T|GPR133_ENST00000543617.1_Missense_Mutation_p.A335T|GPR133_ENST00000261654.5_Missense_Mutation_p.A816T			Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	816					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GGTGAGAGCCGCCTTCAAGCA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA	0,4406		0,0,2203	78	65	69		2446	4.6	1	12		69	1,8599	1.2+/-3.3	0,1,4299	no	missense	GPR133	NM_198827.3	58	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	816/875	131622691	1,13005	2203	4300	6503	SO:0001583	missense			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452	283383	283383		-, GPCR / Class B : Orphans	19893	protein-coding gene	gene with protein product		613639			NA		Standard	NM_198827	NM_198827	NA	Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000376682.4:c.1504G>A	12.37:g.131622691G>A	ENSP00000365872:p.Ala502Thr	NA	Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	37		.	.	.	.	.	.	.	.	.	.	G	20.2	3.950788	0.73787	0.0	1.16E-4	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000376682;ENST00000543617	T;T;T;T	0.56444	1.22;0.46;0.46;0.46	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.53206	0.1782	L	0.29908	0.895	0.80722	D	1	D;P;P	0.56287	0.975;0.627;0.946	P;B;P	0.54060	0.741;0.081;0.699	T	0.54139	-0.8338	10	0.42905	T	0.14	.	14.9569	0.71124	0.0:0.0:1.0:0.0	.	848;169;816	B7ZLF7;Q9NSM3;Q6QNK2	.;.;GP133_HUMAN	T	816;848;502;335	ENSP00000261654:A816T;ENSP00000444425:A848T;ENSP00000365872:A502T;ENSP00000438021:A335T	ENSP00000261654:A816T	A	+	1	0	GPR133	130188644	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	7.661000	0.83786	2.106000	0.64143	0.561000	0.74099	GCC	GPR133-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000399364.1		+	ENST00000376682.4	Missense_Mutation	SNP	12 : 131622691 - 131622691 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	364	69
DMD	1756	broad.mit.edu	37	X	31525440	31525440	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:31525440T>G	ENST00000357033.4	-	56	8554	c.8348A>C	c.(8347-8349)aAc>aCc	p.N2783T	DMD_ENST00000359836.1_Missense_Mutation_p.N323T|DMD_ENST00000378677.2_Missense_Mutation_p.N2779T|DMD_ENST00000343523.2_Missense_Mutation_p.N323T|DMD_ENST00000541735.1_Missense_Mutation_p.N323T|DMD_ENST00000474231.1_Missense_Mutation_p.N323T|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000378707.3_Missense_Mutation_p.N323T	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2783					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCACTTGAAGTTCATGTTATC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													190	155	167			NA	NA	X		NA											NA				31525440		2202	4300	6502	SO:0001583	missense			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947	1756	1756			2928	protein-coding gene	gene with protein product	muscular dystrophy, Duchenne and Becker types	300377	dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, mental retardation, X-linked 85	MRX85	NA	3282674, 3607877, 23900271	Standard	NM_004006	NM_004019	NA	Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.8348A>C	X.37:g.31525440T>G	ENSP00000354923:p.Asn2783Thr	NA	Q02295|Q14169|Q14170|Q5JYU0|Q7KZ48|Q9UCW3|Q9UCW4	37	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.78|12.78	2.042040|2.042040	0.35989|0.35989	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	.|T;T;T;T;T;T;T;T	.|0.55930	.|0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|0.000000	.|0.39985	.|U	.|0.001213	T|T	0.71459|0.71459	0.3342|0.3342	M|M	0.78049|0.78049	2.395|2.395	0.42535|0.42535	D|D	0.993054|0.993054	.|B;P;D;B;B;P;P;P;B;B;P	.|0.65815	.|0.216;0.476;0.995;0.145;0.145;0.659;0.553;0.553;0.077;0.063;0.729	.|B;B;D;B;B;P;P;P;B;B;B	.|0.64506	.|0.31;0.1;0.926;0.111;0.111;0.607;0.466;0.466;0.063;0.037;0.413	T|T	0.74884|0.74884	-0.3512|-0.3512	5|10	.|0.52906	.|T	.|0.07	.|.	14.9992|14.9992	0.71459|0.71459	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|2775;2783;2779;1442;1439;323;323;323;323;323;2660	.|P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3	.|.;DMD_HUMAN;.;.;.;.;.;.;.;.;.	D|T	511|2775;1442;1439;479;2779;2783;323;323;2783;2660;323;323;323	.|ENSP00000350765:N479T;ENSP00000367948:N2779T;ENSP00000354923:N2783T;ENSP00000352894:N323T;ENSP00000340057:N323T;ENSP00000367979:N323T;ENSP00000444119:N323T;ENSP00000417123:N323T	.|ENSP00000340057:N323T	E|N	-|-	3|2	2|0	DMD|DMD	31435361|31435361	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.839000|3.839000	0.55835|0.55835	1.924000|1.924000	0.55735|0.55735	0.481000|0.481000	0.45027|0.45027	GAA|AAC	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056182.2		-	ENST00000357033.4	Missense_Mutation	SNP	X : 31525440 - 31525440 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	235	77
ASTN1	460	broad.mit.edu	37	1	177000083	177000083	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177000083C>T	ENST00000367657.3	-	4	1061	c.871G>A	c.(871-873)Gac>Aac	p.D291N	ASTN1_ENST00000367654.3_Missense_Mutation_p.D291N|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.D291N|ASTN1_ENST00000424564.2_Missense_Mutation_p.D291N			O14525	ASTN1_HUMAN	astrotactin 1	291					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TTGGCATTGTCACTTCCTGTA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	103	103			NA	NA	1		NA											NA				177000083		2203	4300	6503	SO:0001583	missense			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092	460	460			773	protein-coding gene	gene with protein product		600904	astrotactin	ASTN	NA	9070947	Standard	NM_004319	NM_001286164	NA	Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367657.3:c.871G>A	1.37:g.177000083C>T	ENSP00000356629:p.Asp291Asn	NA	O60799|Q5W0V7|Q5W0V8	37		.	.	.	.	.	.	.	.	.	.	C	34	5.341740	0.95783	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.16597	2.33;2.74;2.75;2.33	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	L	0.27053	0.805	0.80722	D	1	D;D;D	0.71674	0.998;0.996;0.996	D;D;D	0.81914	0.995;0.987;0.987	T	0.03773	-1.1005	10	0.66056	D	0.02	-36.3384	19.5808	0.95467	0.0:1.0:0.0:0.0	.	291;291;291	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	N	291	ENSP00000356629:D291N;ENSP00000354536:D291N;ENSP00000356626:D291N;ENSP00000395041:D291N	ENSP00000354536:D291N	D	-	1	0	ASTN1	175266706	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.348000	0.79366	2.706000	0.92434	0.655000	0.94253	GAC	ASTN1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000084823.1		-	ENST00000367657.3	Missense_Mutation	SNP	1 : 177000083 - 177000083 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	356	81
ZNF862	643641	broad.mit.edu	37	7	149559064	149559064	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149559064G>T	ENST00000223210.4	+	7	3060	c.2815G>T	c.(2815-2817)Gac>Tac	p.D939Y	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	939					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GTTTGACGCAGACCGACCCCC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	129	127			NA	NA	7		NA											NA				149559064		2049	4179	6228	SO:0001583	missense			AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479	643641	643641		Zinc fingers, C2H2-type, -	34519	protein-coding gene	gene with protein product					NA		Standard	NM_001099220	NM_001099220	NA	Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.2815G>T	7.37:g.149559064G>T	ENSP00000223210:p.Asp939Tyr	NA	A0AUL8	37	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	G	5.516	0.280198	0.10458	.	.	ENSG00000106479	ENST00000223210	T	0.01126	5.3	5.39	3.55	0.40652	.	0.225743	0.30911	N	0.008632	T	0.01061	0.0035	L	0.27053	0.805	0.29742	N	0.837006	P	0.44877	0.845	B	0.39840	0.311	T	0.48703	-0.9012	10	0.51188	T	0.08	-18.637	7.7891	0.29110	0.0885:0.1623:0.7492:0.0	.	939	O60290	ZN862_HUMAN	Y	939	ENSP00000223210:D939Y	ENSP00000223210:D939Y	D	+	1	0	ZNF862	149189997	0.099000	0.21834	0.780000	0.31762	0.275000	0.26752	1.241000	0.32743	1.255000	0.44051	0.655000	0.94253	GAC	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350165.1		+	ENST00000223210.4	Missense_Mutation	SNP	7 : 149559064 - 149559064 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	820	121
ABCC10	89845	broad.mit.edu	37	6	43417778	43417778	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43417778G>A	ENST00000244533.3	+	20	4703	c.4344G>A	c.(4342-4344)caG>caA	p.Q1448Q	ABCC10_ENST00000372530.4_Silent_p.Q1476Q	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1476	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.Q1448H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TGTTCCAGCAGCTGCTGCAGA	0.652		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)											53	60	57			NA	NA	6		NA											NA				43417778		2203	4300	6503	SO:0001819	synonymous_variant			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574	89845	89845		ATP binding cassette transporters / subfamily C	52	protein-coding gene	gene with protein product		612509			NA	8894702	Standard	NM_033450	NM_033450	NA	Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000244533.3:c.4344G>A	6.37:g.43417778G>A		NA	Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	37	CCDS4896.1																																																																																			ABCC10-007	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040608.3		+	ENST00000244533.3	Silent	SNP	6 : 43417778 - 43417778 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	588	41
ACSS2	55902	broad.mit.edu	37	20	33509141	33509141	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33509141G>A	ENST00000360596.2	+	11	1497	c.1286G>A	c.(1285-1287)cGg>cAg	p.R429Q	ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Missense_Mutation_p.R379Q|ACSS2_ENST00000253382.5_Missense_Mutation_p.R442Q	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	429					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGGCATAGCCGGGCATCCTTG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	69	68			NA	NA	20		NA											NA				33509141		2203	4300	6503	SO:0001583	missense			AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	55902	55902	6.2.1.1	Acyl-CoA synthetase family	15814	protein-coding gene	gene with protein product		605832	acetyl-Coenzyme A synthetase 2 (ADP forming)	ACAS2	NA	10843999	Standard	NM_018677	NM_018677	NA	Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.1286G>A	20.37:g.33509141G>A	ENSP00000353804:p.Arg429Gln	NA	Q5QPH2|Q96EL0|Q9NQP7|Q9UJ15	37	CCDS13243.1	.	.	.	.	.	.	.	.	.	.	G	33	5.275405	0.95459	.	.	ENSG00000131069	ENST00000336325;ENST00000360596;ENST00000374693;ENST00000542204;ENST00000253382	T;T;T	0.49432	0.78;2.86;2.86	5.52	5.52	0.82312	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.72011	0.3408	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.74348	0.983;0.975	T	0.74551	-0.3628	10	0.87932	D	0	-11.6693	19.6361	0.95733	0.0:0.0:1.0:0.0	.	442;429	Q5QPH3;Q9NR19	.;ACSA_HUMAN	Q	379;429;427;137;442	ENSP00000337190:R379Q;ENSP00000353804:R429Q;ENSP00000253382:R442Q	ENSP00000253382:R442Q	R	+	2	0	ACSS2	32972802	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.425000	0.73370	2.878000	0.98634	0.650000	0.86243	CGG	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078823.3		+	ENST00000360596.2	Missense_Mutation	SNP	20 : 33509141 - 33509141 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	511	80
MCMBP	79892	broad.mit.edu	37	10	121618597	121618597	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121618597A>C	ENST00000360003.3	-	3	410	c.241T>G	c.(241-243)Tac>Gac	p.Y81D	MCMBP_ENST00000369077.3_Missense_Mutation_p.Y81D|MCMBP_ENST00000466047.1_5'UTR	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	81					cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						ACTCCCATGTAAAACTCAGGG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	77	78			NA	NA	10		NA											NA				121618597		2203	4300	6503	SO:0001583	missense			BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771	79892	79892			25782	protein-coding gene	gene with protein product		610909	chromosome 10 open reading frame 119	C10orf119	NA	17296731	Standard	NM_024834	NM_024834	NA	Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.241T>G	10.37:g.121618597A>C	ENSP00000353098:p.Tyr81Asp	NA	B3KSP7|Q6IA56|Q9BVT9|Q9H916	37	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.494809	0.85069	.	.	ENSG00000197771	ENST00000360003;ENST00000369077	.	.	.	5.41	5.41	0.78517	.	0.068023	0.64402	D	0.000010	D	0.83949	0.5365	M	0.89095	3.005	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	D	0.87282	0.2293	9	0.72032	D	0.01	-9.3558	15.4445	0.75220	1.0:0.0:0.0:0.0	.	81	Q9BTE3	MCMBP_HUMAN	D	81	.	ENSP00000353098:Y81D	Y	-	1	0	MCMBP	121608587	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.739000	0.91574	2.037000	0.60232	0.533000	0.62120	TAC	MCMBP-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050684.1		-	ENST00000360003.3	Missense_Mutation	SNP	10 : 121618597 - 121618597 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	297	49
LPP	4026	broad.mit.edu	37	3	188590548	188590548	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:188590548C>T	ENST00000312675.4	+	10	1953	c.1707C>T	c.(1705-1707)tgC>tgT	p.C569C	LPP_ENST00000543006.1_Silent_p.C569C	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	569	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)		GCTACCGATGCGAGGTCTGGT	0.522		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													92	70	77			NA	NA	3		NA											NA				188590548		2203	4300	6503	SO:0001819	synonymous_variant			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.1707C>T	3.37:g.188590548C>T		NA	A1L4L6|D3DNV6|Q8NFX5	37	CCDS3291.1																																																																																			LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344030.1		+	ENST00000312675.4	Silent	SNP	3 : 188590548 - 188590548 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	244	55
CNTRL	11064	broad.mit.edu	37	9	123852648	123852648	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123852648C>A	ENST00000373855.1	+	4	573	c.313C>A	c.(313-315)Ctt>Att	p.L105I	CNTRL_ENST00000238341.5_Missense_Mutation_p.L105I|CNTRL_ENST00000373865.2_Missense_Mutation_p.L105I			Q7Z7A1	CNTRL_HUMAN	centriolin	105					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						ATCTCTGAACCTTTCACTTTC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	89	87			NA	NA	9		NA											NA				123852648		2203	4299	6502	SO:0001583	missense			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397	11064	11064			1858	protein-coding gene	gene with protein product		605496	centrosomal protein 1, centrosomal protein 110kDa	CEP1, CEP110	NA	10688839	Standard	NM_007018	XM_005251679	NA	Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.313C>A	9.37:g.123852648C>A	ENSP00000362962:p.Leu105Ile	NA	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	37	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774407	0.70107	.	.	ENSG00000119397	ENST00000373865;ENST00000373855;ENST00000238341;ENST00000454238	T;T	0.34072	1.38;1.38	4.69	4.69	0.59074	.	.	.	.	.	T	0.61009	0.2313	M	0.76574	2.34	0.39025	D	0.959823	D	0.69078	0.997	D	0.78314	0.991	T	0.68119	-0.5493	9	0.66056	D	0.02	.	16.9587	0.86266	0.0:1.0:0.0:0.0	.	105	Q7Z7A1	CNTRL_HUMAN	I	105	ENSP00000362962:L105I;ENSP00000238341:L105I	ENSP00000238341:L105I	L	+	1	0	CNTRL	122892469	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	5.832000	0.69337	2.313000	0.78055	0.585000	0.79938	CTT	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250216.1		+	ENST00000373855.1	Missense_Mutation	SNP	9 : 123852648 - 123852648 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	425	34
CNTLN	54875	broad.mit.edu	37	9	17394704	17394704	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:17394704A>C	ENST00000380647.3	+	15	2336	c.2252A>C	c.(2251-2253)aAa>aCa	p.K751T	CNTLN_ENST00000262360.5_Missense_Mutation_p.K751T|CNTLN_ENST00000425824.1_Missense_Mutation_p.K751T			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	751						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AAGGGGAGTAAAGATGTAGAA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	80	81			NA	NA	9		NA											NA				17394704		1836	4103	5939	SO:0001583	missense			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459	54875	54875			23432	protein-coding gene	gene with protein product		611870	chromosome 9 open reading frame 101, chromosome 9 open reading frame 39	C9orf101, C9orf39	NA	18086554	Standard	NM_017738	XM_005251492	NA	Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.2252A>C	9.37:g.17394704A>C	ENSP00000370021:p.Lys751Thr	NA	A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	37	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	A	0.031	-1.334863	0.01287	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.18174	2.23;2.23;2.49	5.56	1.7	0.24286	.	.	.	.	.	T	0.09862	0.0242	L	0.29908	0.895	0.09310	N	1	B;B;B	0.17667	0.023;0.021;0.021	B;B;B	0.13407	0.008;0.009;0.006	T	0.35624	-0.9781	9	0.27785	T	0.31	.	1.5427	0.02558	0.3752:0.1479:0.3343:0.1427	.	751;751;751	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	T	751	ENSP00000370021:K751T;ENSP00000392798:K751T;ENSP00000262360:K751T	ENSP00000262360:K751T	K	+	2	0	CNTLN	17384704	0.218000	0.23608	0.082000	0.20525	0.634000	0.38068	0.444000	0.21661	0.309000	0.22966	0.528000	0.53228	AAA	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051793.3		+	ENST00000380647.3	Missense_Mutation	SNP	9 : 17394704 - 17394704 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	332	76
PPARA	5465	broad.mit.edu	37	22	46627925	46627925	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46627925C>T	ENST00000396000.2	+	7	1213	c.948C>T	c.(946-948)gcC>gcT	p.A316A	PPARA_ENST00000402126.1_Silent_p.A316A|PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000262735.5_Silent_p.A316A|PPARA_ENST00000407236.1_Silent_p.A316A			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	316	Ligand-binding.|Required for heterodimerization with RXRA.				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	TTTATGAGGCCATATTCGCCA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	127	132			NA	NA	22		NA											NA				46627925		2203	4300	6503	SO:0001819	synonymous_variant			L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951	5465	5465		Nuclear hormone receptors	9232	protein-coding gene	gene with protein product		170998	peroxisome proliferative activated receptor, alpha	PPAR	NA	7684926, 10591208	Standard	NM_001001928	XM_005261655	NA	Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.948C>T	22.37:g.46627925C>T		NA	Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	37	CCDS33669.1																																																																																			PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318129.3		+	ENST00000396000.2	Silent	SNP	22 : 46627925 - 46627925 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	568	18
ZNF79	7633	broad.mit.edu	37	9	130206888	130206888	+	Missense_Mutation	SNP	G	G	T	rs148184910		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130206888G>T	ENST00000342483.5	+	5	1315	c.909G>T	c.(907-909)aaG>aaT	p.K303N	ZNF79_ENST00000543471.1_Missense_Mutation_p.K279N	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CCGGAGAGAAGCCCTACGAAT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ASN/LYS	0,4406		0,0,2203	120	105	110		909	-4.4	0.5	9	dbSNP_134	110	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ZNF79	NM_007135.2	94	0,2,6501	TT,TG,GG	NA	0.0233,0.0,0.0154	probably-damaging	303/499	130206888	2,13004	2203	4300	6503	SO:0001583	missense			X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152	7633	7633		Zinc fingers, C2H2-type	13153	protein-coding gene	gene with protein product		194552	zinc finger protein 79 (pT7)		NA	8478004	Standard	NM_007135	NM_007135	NA	Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.909G>T	9.37:g.130206888G>T	ENSP00000362446:p.Lys303Asn	NA	Q5VVW1|Q96NV1	37	CCDS6871.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975074	0.53720	0.0	2.33E-4	ENSG00000196152	ENST00000342483;ENST00000543471	T;T	0.26067	1.76;1.76	3.83	-4.36	0.03645	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41627	0.1167	M	0.69463	2.115	0.39429	D	0.967041	D	0.71674	0.998	D	0.68483	0.958	T	0.49224	-0.8962	9	0.87932	D	0	.	11.344	0.49550	0.7632:0.0:0.2368:0.0	.	303	Q15937	ZNF79_HUMAN	N	303;279	ENSP00000362446:K303N;ENSP00000438418:K279N	ENSP00000362446:K303N	K	+	3	2	ZNF79	129246709	0.854000	0.29725	0.516000	0.27786	0.938000	0.57974	-0.018000	0.12568	-1.111000	0.02988	-0.136000	0.14681	AAG	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054188.1		+	ENST00000342483.5	Missense_Mutation	SNP	9 : 130206888 - 130206888 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	437	87
PPM1N	147699	broad.mit.edu	37	19	46005347	46005347	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46005347C>A	ENST00000456399.2	+	4	405	c.282C>A	c.(280-282)agC>agA	p.S94R	PPM1N_ENST00000401705.1_3'UTR|PPM1N_ENST00000396736.2_Missense_Mutation_p.S101R|PPM1N_ENST00000396737.2_3'UTR|PPM1N_ENST00000324688.4_3'UTR|PPM1N_ENST00000396735.2_3'UTR|PPM1N_ENST00000401593.1_Missense_Mutation_p.S104R			Q8N819	PPM1N_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)	309	PP2C-like.						magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						GGCCTGACAGCTGTTGTCCTT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	62	61			NA	NA	19		NA											NA				46005347		1932	4124	6056	SO:0001583	missense			AK097444	CCDS46115.1	19q13.32	2012-04-17			ENSG00000213889	ENSG00000213889	147699	147699		Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent	26845	protein-coding gene	gene with protein product					NA		Standard	NM_001080401	NM_001080401	NA	Approved	FLJ40125	uc002pce.3	Q8N819	OTTHUMG00000140397	ENST00000456399.2:c.282C>A	19.37:g.46005347C>A	ENSP00000389871:p.Ser94Arg	NA	Q6P662	37		.	.	.	.	.	.	.	.	.	.	C	12.56	1.974442	0.34848	.	.	ENSG00000213889	ENST00000456399;ENST00000401593;ENST00000396736	.	.	.	3.11	2.08	0.27032	.	.	.	.	.	T	0.39835	0.1093	.	.	.	0.20703	N	0.999868	.	.	.	.	.	.	T	0.33497	-0.9866	5	0.62326	D	0.03	.	6.091	0.19995	0.0:0.8589:0.0:0.1411	.	.	.	.	R	94;104;101	.	ENSP00000379962:S101R	S	+	3	2	PPM1N	50697187	0.008000	0.16893	0.184000	0.23157	0.224000	0.24922	1.336000	0.33850	0.883000	0.36040	0.313000	0.20887	AGC	PPM1N-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000277197.4		+	ENST00000456399.2	Missense_Mutation	SNP	19 : 46005347 - 46005347 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	186	9
TPST2	8459	broad.mit.edu	37	22	26937351	26937351	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26937351C>T	ENST00000338754.4	-	3	516	c.246G>A	c.(244-246)acG>acA	p.T82T	TPST2_ENST00000398110.2_Silent_p.T82T|TPST2_ENST00000403880.1_Silent_p.T82T	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	82					peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						CGCGCATCAACGTGGTGCCAC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	38	42			NA	NA	22		NA											NA				26937351		2203	4290	6493	SO:0001819	synonymous_variant			AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	8459	8459	2.8.2.20	Sulfotransferases, membrane-bound	12021	protein-coding gene	gene with protein product	transport and golgi organization 13 homolog B (Drosophila)	603126			NA	9736702, 9733778	Standard	NM_003595	NM_003595	NA	Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.246G>A	22.37:g.26937351C>T		NA	B3KQA7|Q6FI98|Q9H0V4	37	CCDS13839.1																																																																																			TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320820.3		-	ENST00000338754.4	Silent	SNP	22 : 26937351 - 26937351 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	213	44
TXLNG	55787	broad.mit.edu	37	X	16855753	16855753	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:16855753C>T	ENST00000380122.5	+	8	1158	c.1097C>T	c.(1096-1098)aCt>aTt	p.T366I	TXLNG_ENST00000398155.4_Missense_Mutation_p.T234I	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	366					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						GAATTCCAGACTACCATGGCA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	78	82			NA	NA	X		NA											NA				16855753		2202	4300	6502	SO:0001583	missense			AK002071	CCDS14178.1, CCDS55373.1	Xp22.2	2014-05-07	2010-04-20	2010-04-20	ENSG00000086712	ENSG00000086712	55787	55787			18578	protein-coding gene	gene with protein product	lipopolysaccharide specific response-5 protein, factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription	300677	chromosome X open reading frame 15	CXorf15	NA	15911876, 15184072, 16831913	Standard	NM_018360	NM_018360	NA	Approved	FLJ11209, LSR5, FIAT, MGC126621, MGC126625, TXLNGX	uc004cxq.2	Q9NUQ3	OTTHUMG00000021196	ENST00000380122.5:c.1097C>T	X.37:g.16855753C>T	ENSP00000369465:p.Thr366Ile	NA	Q2KQ75|Q5JNZ7|Q9P0X1	37	CCDS14178.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.776198	0.70107	.	.	ENSG00000086712	ENST00000380122;ENST00000398155	T;T	0.30981	1.51;1.51	5.41	5.41	0.78517	.	0.049162	0.85682	D	0.000000	T	0.48572	0.1507	L	0.43152	1.355	0.54753	D	0.999981	D;D	0.69078	0.979;0.997	P;D	0.67900	0.81;0.954	T	0.41840	-0.9486	10	0.51188	T	0.08	-13.8671	18.5566	0.91088	0.0:1.0:0.0:0.0	.	234;366	Q9NUQ3-2;Q9NUQ3	.;TXLNG_HUMAN	I	366;234	ENSP00000369465:T366I;ENSP00000381222:T234I	ENSP00000369465:T366I	T	+	2	0	TXLNG	16765674	0.999000	0.42202	0.997000	0.53966	0.988000	0.76386	3.366000	0.52343	2.411000	0.81874	0.436000	0.28706	ACT	TXLNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055912.1		+	ENST00000380122.5	Missense_Mutation	SNP	X : 16855753 - 16855753 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	159	43
PGBD4	161779	broad.mit.edu	37	15	34395759	34395759	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34395759T>C	ENST00000397766.2	+	1	1486	c.1027T>C	c.(1027-1029)Tta>Cta	p.L343L		NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	343										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		TTTCAGAGAATTACATCAAAA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	85	86			NA	NA	15		NA											NA				34395759		2201	4298	6499	SO:0001819	synonymous_variant			AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405	161779	161779			19401	protein-coding gene	gene with protein product					NA		Standard		NM_152595	NA	Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.1027T>C	15.37:g.34395759T>C		NA	A1L487|A8K0C6|Q8N9E8	37	CCDS10033.1																																																																																			PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251522.1		+	ENST00000397766.2	Silent	SNP	15 : 34395759 - 34395759 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	428	77
TSHZ3	57616	broad.mit.edu	37	19	31767496	31767496	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:31767496G>A	ENST00000240587.4	-	2	3530	c.3203C>T	c.(3202-3204)cCg>cTg	p.P1068L		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	1068					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P885L(1)|p.P1068L(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GTGGTCTTCCGGAGATTTCCC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	endometrium(2)											151	145	147			NA	NA	19		NA											NA				31767496		2203	4300	6503	SO:0001583	missense			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297	57616	57616		Teashirt zinc fingers, Homeoboxes / ZF class, Zinc fingers, C2H2-type	30700	protein-coding gene	gene with protein product	teashirt 3	614119	zinc finger protein 537, teashirt family zinc finger 3	ZNF537	NA		Standard	NM_020856	NM_020856	NA	Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.3203C>T	19.37:g.31767496G>A	ENSP00000240587:p.Pro1068Leu	NA	Q9H0G6|Q9P254	37	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133706	0.56828	.	.	ENSG00000121297	ENST00000240587	T	0.41400	1.0	5.93	5.93	0.95920	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.43964	0.1271	M	0.68952	2.095	0.80722	D	1	P	0.47253	0.892	B	0.35240	0.198	T	0.54022	-0.8355	10	0.87932	D	0	-8.4718	20.3507	0.98813	0.0:0.0:1.0:0.0	.	1068	Q63HK5	TSH3_HUMAN	L	1068	ENSP00000240587:P1068L	ENSP00000240587:P1068L	P	-	2	0	TSHZ3	36459336	1.000000	0.71417	0.097000	0.21041	0.715000	0.41141	9.441000	0.97557	2.808000	0.96608	0.655000	0.94253	CCG	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316743.2		-	ENST00000240587.4	Missense_Mutation	SNP	19 : 31767496 - 31767496 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	432	93
MYH4	4622	broad.mit.edu	37	17	10348418	10348418	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10348418C>T	ENST00000255381.2	-	37	5451	c.5341G>A	c.(5341-5343)Gcc>Acc	p.A1781T	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1781					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.A1781T(2)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCCAGGTGGGCGCTGGTGTCC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)											128	126	126			NA	NA	17		NA											NA				10348418		2203	4298	6501	SO:0001583	missense				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424	4622	4622		Myosins / Myosin superfamily : Class II	7574	protein-coding gene	gene with protein product		160742	myosin, heavy polypeptide 4, skeletal muscle		NA	8518795	Standard	NM_017533	NM_017533	NA	Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5341G>A	17.37:g.10348418C>T	ENSP00000255381:p.Ala1781Thr	NA		37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670513	0.67814	.	.	ENSG00000141048	ENST00000255381	T	0.78816	-1.21	5.5	4.53	0.55603	Myosin tail (1);	0.201038	0.23851	N	0.043944	T	0.78984	0.4370	M	0.83118	2.625	0.51012	D	0.999903	P	0.36974	0.576	B	0.34931	0.192	T	0.81335	-0.0979	10	0.56958	D	0.05	.	14.6141	0.68537	0.0:0.9295:0.0:0.0705	.	1781	Q9Y623	MYH4_HUMAN	T	1781	ENSP00000255381:A1781T	ENSP00000255381:A1781T	A	-	1	0	MYH4	10289143	0.985000	0.35326	1.000000	0.80357	0.986000	0.74619	2.462000	0.45049	1.456000	0.47831	0.591000	0.81541	GCC	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252731.1		-	ENST00000255381.2	Missense_Mutation	SNP	17 : 10348418 - 10348418 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1035	104
XPC	7508	broad.mit.edu	37	3	14190224	14190224	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14190224C>A	ENST00000285021.7	-	13	2472	c.2258G>T	c.(2257-2259)cGg>cTg	p.R753L	XPC_ENST00000449060.2_Missense_Mutation_p.R716L	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	753	Minimal sensor domain involved in damage recognition.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAACTCGTTCCGGGGCACCTG	0.602		NA	Mis, N, F, S			skin basal cell, skin squamous cell, melanoma		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	xeroderma pigmentosum, complementation group C		E	0													64	73	70			NA	NA	3		NA											NA				14190224		2111	4218	6329	SO:0001583	missense	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767	7508	7508			12816	protein-coding gene	gene with protein product	xeroderma pigmentosum group C protein	613208			NA	1522891	Standard	NM_004628	NM_004628	NA	Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.2258G>T	3.37:g.14190224C>A	ENSP00000285021:p.Arg753Leu	NA	Q53GT7|Q96AX0	37	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904535	0.92035	.	.	ENSG00000154767	ENST00000285021;ENST00000449060	T;T	0.41400	1.0;1.04	5.65	5.65	0.86999	DNA repair protein Rad4, DNA-binding domain 3 (1);	0.000000	0.85682	D	0.000000	T	0.72301	0.3443	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.77281	-0.2646	10	0.87932	D	0	-25.7765	19.7205	0.96142	0.0:1.0:0.0:0.0	.	716;753	E9PH69;Q01831	.;XPC_HUMAN	L	753;716	ENSP00000285021:R753L;ENSP00000404002:R716L	ENSP00000285021:R753L	R	-	2	0	XPC	14165225	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	7.617000	0.83032	2.671000	0.90904	0.462000	0.41574	CGG	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340517.3		-	ENST00000285021.7	Missense_Mutation	SNP	3 : 14190224 - 14190224 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	213	42
SACS	26278	broad.mit.edu	37	13	23915088	23915088	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23915088C>T	ENST00000382292.3	-	9	3200	c.2927G>A	c.(2926-2928)cGt>cAt	p.R976H	SACS_ENST00000382298.3_Missense_Mutation_p.R976H|SACS_ENST00000402364.1_Missense_Mutation_p.R226H			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	976					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GTTTGCCAGACGAATAGTAGC	0.348		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	13		NA											NA				23915088		2203	4300	6503	SO:0001583	missense			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835	26278	26278		Heat shock proteins / DNAJ (HSP40)	10519	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 138	604490	spastic ataxia of Charlevoix-Saguenay (sacsin)		NA	10610707, 15057823, 21726565	Standard	NM_014363	NM_001278055	NA	Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.2927G>A	13.37:g.23915088C>T	ENSP00000371729:p.Arg976His	NA	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	34	5.356014	0.95854	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88354	-2.22;-2.37;-2.22	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	D	0.91040	0.7181	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	P	0.61533	0.89	D	0.89568	0.3811	10	0.39692	T	0.17	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	976	Q9NZJ4	SACS_HUMAN	H	976;226;976	ENSP00000371729:R976H;ENSP00000385844:R226H;ENSP00000371735:R976H	ENSP00000371729:R976H	R	-	2	0	SACS	22813088	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.783000	0.68982	2.878000	0.98634	0.650000	0.86243	CGT	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044148.3		-	ENST00000382292.3	Missense_Mutation	SNP	13 : 23915088 - 23915088 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	384	67
MYADM	91663	broad.mit.edu	37	19	54377422	54377422	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54377422C>T	ENST00000391769.2	+	3	919	c.639C>T	c.(637-639)tgC>tgT	p.C213C	MYADM_ENST00000391770.4_Silent_p.C213C|MYADM_ENST00000391771.1_Silent_p.C213C|MYADM_ENST00000391768.2_Silent_p.C213C|MYADM_ENST00000336967.3_Silent_p.C213C	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	213	MARVEL 2.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		ACGCCATCTGCTTCATCCTAG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	129	136			NA	NA	19		NA											NA				54377422		2203	4300	6503	SO:0001819	synonymous_variant			AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820	91663	91663			7544	protein-coding gene	gene with protein product		609959			NA	10733104, 12075932	Standard	NM_138373	NM_001020818	NA	Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.639C>T	19.37:g.54377422C>T		NA	B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	37	CCDS12866.1																																																																																			MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000134337.1		+	ENST00000391769.2	Silent	SNP	19 : 54377422 - 54377422 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	691	164
ITSN1	6453	broad.mit.edu	37	21	35237530	35237530	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35237530G>T	ENST00000381318.3	+	32	4254	c.3966G>T	c.(3964-3966)caG>caT	p.Q1322H	ITSN1_ENST00000399367.3_Missense_Mutation_p.Q1317H|ITSN1_ENST00000381285.4_Missense_Mutation_p.Q1322H|ITSN1_ENST00000399326.3_3'UTR|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.Q1317H	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1322	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TGAGCGCACAGCTGCCGCACA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	38	42			NA	NA	21		NA											NA				35237530		2203	4300	6503	SO:0001583	missense			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726	6453	6453		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing, EF-hand domain containing	6183	protein-coding gene	gene with protein product	SH3 domain protein-1A, human intersectin-SH3 domain-containing protein SH3P17, Src homology 3 domain-containing protein, intersectin 1 short form variant, 11, intersectin 1 short form variant 3, intersectin short variant 12	602442		SH3D1A, ITSN	NA	9799604, 9813051	Standard	NM_003024	NM_003024	NA	Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3966G>T	21.37:g.35237530G>T	ENSP00000370719:p.Gln1322His	NA	O95216|Q1ED40|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	37	CCDS33545.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.21|19.21	3.784119|3.784119	0.70222|0.70222	.|.	.|.	ENSG00000205726|ENSG00000205726	ENST00000381284|ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000437442	.|T;T;T;T	.|0.27557	.|1.66;1.66;1.66;1.66	5.78|5.78	5.78|5.78	0.91487|0.91487	.|Dbl homology (DH) domain (5);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.39682|0.39682	0.1087|0.1087	N|N	0.10874|0.10874	0.06|0.06	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.998;0.98;0.98	T|T	0.41980|0.41980	-0.9478|-0.9478	5|10	.|0.40728	.|T	.|0.16	.|.	20.0079|20.0079	0.97439|0.97439	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1317;1317;1322	.|A8CTY3;A8CTX8;Q15811	.|.;.;ITSN1_HUMAN	S|H	58|1322;1322;1251;1317;1317	.|ENSP00000370719:Q1322H;ENSP00000370685:Q1322H;ENSP00000382301:Q1317H;ENSP00000387377:Q1317H	.|ENSP00000370685:Q1322H	A|Q	+|+	1|3	0|2	ITSN1|ITSN1	34159400|34159400	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.750000|0.750000	0.42670|0.42670	5.200000|5.200000	0.65158|0.65158	2.726000|2.726000	0.93360|0.93360	0.561000|0.561000	0.74099|0.74099	GCT|CAG	ITSN1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000140070.4		+	ENST00000381318.3	Missense_Mutation	SNP	21 : 35237530 - 35237530 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	156	21
CELSR1	9620	broad.mit.edu	37	22	46787161	46787161	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46787161C>T	ENST00000262738.3	-	16	6171	c.6172G>A	c.(6172-6174)Gca>Aca	p.A2058T		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2058					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCCTCAAATGCTTTGGGACAG	0.607		NA									OREG0026656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	49	50			NA	NA	22		NA											NA				46787161		2203	4300	6503	SO:0001583	missense			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275	9620	9620		Cadherins / Major cadherins, -, GPCR / Class B : Orphans	1850	protein-coding gene	gene with protein product	flamingo homolog 2 (Drosophila)	604523	cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog		NA	9339365	Standard	NM_014246	XM_006724383	NA	Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.6172G>A	22.37:g.46787161C>T	ENSP00000262738:p.Ala2058Thr	941	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	37	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384062	0.61845	.	.	ENSG00000075275	ENST00000262738	T	0.68479	-0.33	4.03	4.03	0.46877	GPCR, family 2, extracellular hormone receptor domain (3);	0.000000	0.64402	U	0.000002	T	0.72859	0.3513	L	0.35593	1.075	0.80722	D	1	D;P	0.89917	1.0;0.927	D;P	0.79108	0.992;0.585	T	0.73316	-0.4021	10	0.38643	T	0.18	.	16.1498	0.81605	0.0:1.0:0.0:0.0	.	379;2058	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	T	2058	ENSP00000262738:A2058T	ENSP00000262738:A2058T	A	-	1	0	CELSR1	45165825	0.998000	0.40836	0.604000	0.28916	0.179000	0.23085	3.466000	0.53071	1.964000	0.57103	0.462000	0.41574	GCA	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318037.1		-	ENST00000262738.3	Missense_Mutation	SNP	22 : 46787161 - 46787161 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	236	46
CYP4V2	285440	broad.mit.edu	37	4	187130376	187130376	+	Missense_Mutation	SNP	G	G	A	rs149681054		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187130376G>A	ENST00000378802.4	+	10	1659	c.1355G>A	c.(1354-1356)cGc>cAc	p.R452H	CYP4V2_ENST00000502665.1_3'UTR	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	452					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		GCACAAGGGCGCCATCCATAT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	118	105	109		1355	5.4	1	4	dbSNP_134	109	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CYP4V2	NM_207352.3	29	0,3,6500	AA,AG,GG	NA	0.0233,0.0227,0.0231	probably-damaging	452/526	187130376	3,13003	2203	4300	6503	SO:0001583	missense			AK022114	CCDS34119.1	4q35.2	2004-07-05			ENSG00000145476	ENSG00000145476	285440	285440		Cytochrome P450s	23198	protein-coding gene	gene with protein product		608614			NA	15042513	Standard	XM_209612	NM_207352	NA	Approved	CYP4AH1	uc003iyw.4	Q6ZWL3	OTTHUMG00000160379	ENST00000378802.4:c.1355G>A	4.37:g.187130376G>A	ENSP00000368079:p.Arg452His	NA	B7U6W2|Q6ZTM4	37	CCDS34119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.2|28.2	4.899179|4.899179	0.91962|0.91962	2.27E-4|2.27E-4	2.33E-4|2.33E-4	ENSG00000164344|ENSG00000145476	ENST00000511608|ENST00000378802;ENST00000274118	.|T	.|0.70869	.|-0.52	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	.|0.053681	.|0.64402	.|D	.|0.000001	D|D	0.87293|0.87293	0.6141|0.6141	M|M	0.89030|0.89030	3|3	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.88965|0.88965	0.3396|0.3396	5|10	.|0.87932	.|D	.|0	.|.	19.34|19.34	0.94337|0.94337	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|452	.|Q6ZWL3	.|CP4V2_HUMAN	T|H	51|452;430	.|ENSP00000368079:R452H	.|ENSP00000274118:R430H	A|R	+|+	1|2	0|0	KLKB1|CYP4V2	187367370|187367370	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.630000|0.630000	0.37929|0.37929	8.847000|8.847000	0.92166|0.92166	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GCC|CGC	CYP4V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360398.1		+	ENST00000378802.4	Missense_Mutation	SNP	4 : 187130376 - 187130376 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	615	54
SOX5	6660	broad.mit.edu	37	12	24102519	24102519	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:24102519T>C	ENST00000451604.2	-	1	118	c.17A>G	c.(16-18)gAt>gGt	p.D6G	SOX5_ENST00000381381.2_5'UTR|SOX5_ENST00000545921.1_Intron|SOX5_ENST00000541847.1_Intron|SOX5_ENST00000536850.1_5'UTR|SOX5_ENST00000441133.2_Missense_Mutation_p.D6G|SOX5_ENST00000309359.1_5'UTR|SOX5_ENST00000537393.1_Missense_Mutation_p.D6G			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	6					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CTGAGGTAAATCAGGGTCAGT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	107	111			NA	NA	12		NA											NA				24102519		2203	4300	6503	SO:0001583	missense			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532	6660	6660		SRY (sex determining region Y)-boxes	11201	protein-coding gene	gene with protein product		604975			NA	8812465	Standard	NM_006940	NM_006940	NA	Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.17A>G	12.37:g.24102519T>C	ENSP00000398273:p.Asp6Gly	NA	Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	37	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	t	13.30	2.197084	0.38806	.	.	ENSG00000134532	ENST00000451604;ENST00000537393;ENST00000441133	D;D	0.97279	-4.27;-4.32	5.28	5.28	0.74379	.	0.193467	0.43110	D	0.000609	D	0.94142	0.8121	L	0.29908	0.895	0.80722	D	1	B;B	0.26445	0.149;0.083	B;B	0.30029	0.11;0.051	D	0.92567	0.6063	10	0.56958	D	0.05	.	13.747	0.62881	0.0:0.0:0.0:1.0	.	6;6	G3V0H1;P35711	.;SOX5_HUMAN	G	6	ENSP00000398273:D6G;ENSP00000439832:D6G	ENSP00000393240:D6G	D	-	2	0	SOX5	23993786	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.689000	0.74562	2.125000	0.65367	0.524000	0.50904	GAT	SOX5-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402006.2		-	ENST00000451604.2	Missense_Mutation	SNP	12 : 24102519 - 24102519 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	295	10
DNAH6	1768	broad.mit.edu	37	2	84811312	84811312	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:84811312C>T	ENST00000237449.6	+	14	2427	c.2419C>T	c.(2419-2421)Cat>Tat	p.H807Y	DNAH6_ENST00000389394.3_Missense_Mutation_p.H807Y|DNAH6_ENST00000398278.2_Missense_Mutation_p.H807Y			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	807	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATTTTGTGTGCATTTGGGTAG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	143	146			NA	NA	2		NA											NA				84811312		2203	4300	6503	SO:0001583	missense			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423	1768	1768		Axonemal dyneins	2951	protein-coding gene	gene with protein product		603336	dynein, axonemal, heavy polypeptide 6, dynein heavy chain-like 1	DNHL1	NA	8812413	Standard	NM_001370	NM_001370	NA	Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.2419C>T	2.37:g.84811312C>T	ENSP00000237449:p.His807Tyr	NA	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	37	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	C	8.901	0.956263	0.18507	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.24538	1.85;1.97;1.85	5.73	4.85	0.62838	.	0.000000	0.45126	D	0.000385	T	0.28599	0.0708	M	0.65975	2.015	0.26056	N	0.98142	B;B	0.26902	0.163;0.138	B;B	0.30716	0.119;0.037	T	0.21381	-1.0247	10	0.59425	D	0.04	.	9.391	0.38372	0.0:0.8412:0.0:0.1588	.	807;386	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	Y	807	ENSP00000374045:H807Y;ENSP00000381326:H807Y;ENSP00000237449:H807Y	ENSP00000237449:H807Y	H	+	1	0	DNAH6	84664823	0.990000	0.36364	0.953000	0.39169	0.008000	0.06430	2.566000	0.45948	2.700000	0.92200	0.591000	0.81541	CAT	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328537.2		+	ENST00000237449.6	Missense_Mutation	SNP	2 : 84811312 - 84811312 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	524	107
BAIAP3	8938	broad.mit.edu	37	16	1396176	1396176	+	Silent	SNP	C	C	T	rs115798223	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1396176C>T	ENST00000421665.2	+	24	2412	c.2199C>T	c.(2197-2199)tgC>tgT	p.C733C	BAIAP3_ENST00000426824.3_Silent_p.C769C|BAIAP3_ENST00000397488.2_Silent_p.C786C|BAIAP3_ENST00000324385.5_Silent_p.C804C|BAIAP3_ENST00000397489.1_Silent_p.C786C|BAIAP3_ENST00000562208.1_Silent_p.C746C|BAIAP3_ENST00000568887.1_Silent_p.C741C	NM_001199096.1	NP_001186025.1	O94812	BAIP3_HUMAN	BAI1-associated protein 3	804	MHD1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TCCAGCTCTGCGTGGTCCTCA	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,,,	0,4388		0,0,2194	25	28	27		2199,2307,2238,2223,2412	-3	1	16	dbSNP_132	27	1,8597		0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BAIAP3	NM_001199096.1,NM_001199097.1,NM_001199098.1,NM_001199099.1,NM_003933.4	,,,,	0,1,6492	TT,TC,CC	NA	0.0116,0.0,0.0077	,,,,	733/1117,769/1153,746/1130,741/1125,804/1188	1396176	1,12985	2194	4299	6493	SO:0001819	synonymous_variant			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516	8938	8938			948	protein-coding gene	gene with protein product		604009			NA	9790924	Standard		NM_003933	NA	Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000421665.2:c.2199C>T	16.37:g.1396176C>T		NA	B2RCD7|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	37	CCDS55979.1																																																																																			BAIAP3-007	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432010.1		+	ENST00000421665.2	Silent	SNP	16 : 1396176 - 1396176 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	214	25
MYO15A	51168	broad.mit.edu	37	17	18051507	18051507	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18051507A>G	ENST00000205890.5	+	31	7012	c.6674A>G	c.(6673-6675)gAc>gGc	p.D2225G		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2225	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ATGGCGCTGGACGTGGGCTGC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	34	32			NA	NA	17		NA											NA				18051507		2118	4244	6362	SO:0001583	missense			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536	51168	51168		Myosins / Myosin superfamily : Class XV	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15	NA	9603736	Standard	NM_016239	NM_016239	NA	Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.6674A>G	17.37:g.18051507A>G	ENSP00000205890:p.Asp2225Gly	NA		37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	A	17.00	3.276792	0.59758	.	.	ENSG00000091536	ENST00000205890	D	0.88431	-2.38	4.1	4.1	0.47936	.	.	.	.	.	D	0.91338	0.7268	M	0.66939	2.045	0.80722	D	1	D	0.60575	0.988	P	0.57204	0.815	D	0.90939	0.4796	9	0.42905	T	0.14	.	12.9351	0.58309	1.0:0.0:0.0:0.0	.	2225	Q9UKN7	MYO15_HUMAN	G	2225	ENSP00000205890:D2225G	ENSP00000205890:D2225G	D	+	2	0	MYO15A	17992232	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	5.611000	0.67674	1.733000	0.51620	0.459000	0.35465	GAC	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132048.1		+	ENST00000205890.5	Missense_Mutation	SNP	17 : 18051507 - 18051507 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	316	44
LIMA1	51474	broad.mit.edu	37	12	50575804	50575804	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50575804G>A	ENST00000547825.1	-	4	1520	c.251C>T	c.(250-252)gCa>gTa	p.A84V	LIMA1_ENST00000341247.4_Missense_Mutation_p.A386V|LIMA1_ENST00000552909.1_Missense_Mutation_p.A225V|LIMA1_ENST00000552491.1_Missense_Mutation_p.A83V|LIMA1_ENST00000552783.1_Missense_Mutation_p.A227V|LIMA1_ENST00000394943.3_Missense_Mutation_p.A387V|LIMA1_ENST00000552823.1_Missense_Mutation_p.A226V	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	386					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GGTCTCTCTTGCAGGTGCCTG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	79	80			NA	NA	12		NA											NA				50575804		2203	4300	6503	SO:0001583	missense			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405	51474	51474			24636	protein-coding gene	gene with protein product	epithelial protein lost in neoplasm beta	608364			NA	10806352, 10618726, 12566430	Standard	NM_016357	NM_016357	NA	Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000547825.1:c.251C>T	12.37:g.50575804G>A	ENSP00000448706:p.Ala84Val	NA	B2RB09|Q2TAN7|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	37	CCDS58230.1	.	.	.	.	.	.	.	.	.	.	G	7.352	0.623152	0.14193	.	.	ENSG00000050405	ENST00000552491;ENST00000547825;ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	T;T;T;D;T;T;T	0.84298	-1.08;-1.09;-1.41;-1.83;-1.11;-1.41;-1.4	5.49	2.53	0.30540	Zinc finger, LIM-type (1);	0.325550	0.35320	N	0.003281	T	0.81192	0.4771	M	0.69823	2.125	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.10450	0.003;0.005;0.003	T	0.64947	-0.6287	10	0.18710	T	0.47	.	10.2094	0.43132	0.2881:0.0:0.7119:0.0	.	396;386;225	Q59FE8;Q9UHB6;F8VQE1	.;LIMA1_HUMAN;.	V	83;84;226;387;386;227;225;305	ENSP00000448463:A83V;ENSP00000448706:A84V;ENSP00000450266:A226V;ENSP00000378400:A387V;ENSP00000340184:A386V;ENSP00000448779:A227V;ENSP00000450087:A225V	ENSP00000340184:A386V	A	-	2	0	LIMA1	48862071	0.219000	0.23619	0.606000	0.28943	0.973000	0.67179	1.043000	0.30316	0.741000	0.32674	0.655000	0.94253	GCA	LIMA1-007	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406410.1		-	ENST00000547825.1	Missense_Mutation	SNP	12 : 50575804 - 50575804 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	414	23
API5	8539	broad.mit.edu	37	11	43345158	43345158	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43345158G>A	ENST00000378852.3	+	6	847	c.722G>A	c.(721-723)tGc>tAc	p.C241Y	API5_ENST00000420461.2_Missense_Mutation_p.C187Y|API5_ENST00000531273.1_Missense_Mutation_p.C241Y|API5_ENST00000534600.1_Missense_Mutation_p.C241Y|API5_ENST00000534695.1_Intron|API5_ENST00000455725.2_Missense_Mutation_p.C230Y	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	241					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						CTCTTACAGTGCACTCGGCAG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(1;98 122 5625 20895 49453)							NA				0													137	135	136			NA	NA	11		NA											NA				43345158		2203	4300	6503	SO:0001583	missense			U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181	8539	8539			594	protein-coding gene	gene with protein product	API5-like 1, fibroblast growth factor 2-interacting factor 2, migration-inducing protein MIG8	609774			NA	9307294	Standard	NM_006595	NR_024625	NA	Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000378852.3:c.722G>A	11.37:g.43345158G>A	ENSP00000368129:p.Cys241Tyr	NA	D3DR21|O15441|Q9Y4J7	37	CCDS31465.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897170	0.91962	.	.	ENSG00000166181	ENST00000455725;ENST00000531273;ENST00000420461;ENST00000378852;ENST00000534600;ENST00000526394	T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31	5.62	5.62	0.85841	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61426	0.2346	M	0.67625	2.065	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.998;0.999;0.999	T	0.60919	-0.7167	10	0.62326	D	0.03	-13.4804	19.6343	0.95724	0.0:0.0:1.0:0.0	.	187;241;230;241;241	B4DGR0;Q9BZZ5;B4E283;G3V1C3;Q9BZZ5-2	.;API5_HUMAN;.;.;.	Y	230;241;187;241;241;91	ENSP00000399341:C230Y;ENSP00000431391:C241Y;ENSP00000402540:C187Y;ENSP00000368129:C241Y;ENSP00000434462:C241Y;ENSP00000436436:C91Y	ENSP00000368129:C241Y	C	+	2	0	API5	43301734	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.809000	0.96659	0.655000	0.94253	TGC	API5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389547.1		+	ENST00000378852.3	Missense_Mutation	SNP	11 : 43345158 - 43345158 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	968	72
IMPDH1	3614	broad.mit.edu	37	7	128038646	128038646	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128038646T>C	ENST00000338791.6	-	10	1246	c.896A>G	c.(895-897)gAt>gGt	p.D299G	IMPDH1_ENST00000470772.1_Missense_Mutation_p.D213G|IMPDH1_ENST00000348127.6_Missense_Mutation_p.D263G|IMPDH1_ENST00000378717.4_Missense_Mutation_p.D230G|IMPDH1_ENST00000480861.1_Missense_Mutation_p.D209G|IMPDH1_ENST00000354269.5_Missense_Mutation_p.D289G|IMPDH1_ENST00000496200.1_Missense_Mutation_p.D189G|IMPDH1_ENST00000343214.4_Missense_Mutation_p.D189G|IMPDH1_ENST00000419067.2_Missense_Mutation_p.D266G	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	214					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	CTCATCGCAATCATTGACGAT	0.547		NA									OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	76	75			NA	NA	7		NA											NA				128038646		2203	4300	6503	SO:0001583	missense				CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	3614	3614	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	retinitis pigmentosa 10 (autosomal dominant), IMP (inosine monophosphate) dehydrogenase 1	RP10	NA	1969416, 11875049, 11875050	Standard	NM_000883	NM_000883	NA	Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000338791.6:c.896A>G	7.37:g.128038646T>C	ENSP00000345096:p.Asp299Gly	1561	A4D0Z7|A6NDW5|B3KNP7|Q8N194|Q96NU2	37	CCDS34749.1	.	.	.	.	.	.	.	.	.	.	T	11.93	1.786326	0.31593	.	.	ENSG00000106348	ENST00000419067;ENST00000338791;ENST00000496200;ENST00000354269;ENST00000378717;ENST00000348127;ENST00000343214;ENST00000470772;ENST00000480861;ENST00000497868	D;D;D;D;D;D;D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41	5.29	5.29	0.74685	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (3);IMP dehydrogenase/GMP reductase (1);	0.138458	0.64402	D	0.000004	D	0.89853	0.6835	L	0.50847	1.595	0.48830	D	0.999718	B;B;B;B;B;B;B;B	0.15473	0.005;0.001;0.001;0.001;0.004;0.006;0.013;0.001	B;B;B;B;B;B;B;B	0.21151	0.013;0.021;0.014;0.022;0.033;0.008;0.008;0.012	D	0.86034	0.1515	10	0.51188	T	0.08	-16.798	7.8776	0.29603	0.0:0.0913:0.0:0.9087	.	266;209;214;230;289;263;299;189	C9JV30;B4DE09;P20839;E7EQS0;Q5H9Q6;P20839-3;A4D0Z6;P20839-2	.;.;IMDH1_HUMAN;.;.;.;.;.	G	266;299;189;289;230;263;189;213;209;230	ENSP00000399400:D266G;ENSP00000345096:D299G;ENSP00000420803:D189G;ENSP00000346219:D289G;ENSP00000367989:D230G;ENSP00000265385:D263G;ENSP00000342438:D189G;ENSP00000417296:D213G;ENSP00000420185:D209G;ENSP00000419609:D230G	ENSP00000345096:D299G	D	-	2	0	IMPDH1	127825882	1.000000	0.71417	0.752000	0.31206	0.134000	0.20937	4.207000	0.58480	2.016000	0.59253	0.533000	0.62120	GAT	IMPDH1-005	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349458.1		-	ENST00000338791.6	Missense_Mutation	SNP	7 : 128038646 - 128038646 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	579	105
TXNRD2	10587	broad.mit.edu	37	22	19870891	19870891	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19870891G>A	ENST00000400519.1	-	12	1039	c.1040C>T	c.(1039-1041)gCc>gTc	p.A347V	TXNRD2_ENST00000400518.1_Missense_Mutation_p.A318V|TXNRD2_ENST00000400521.1_Missense_Mutation_p.A348V|TXNRD2_ENST00000542719.1_Missense_Mutation_p.A318V|TXNRD2_ENST00000535882.1_Missense_Mutation_p.A347V			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	348					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					CACAGAGGTGGCTTCCCGGGA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	123	118			NA	NA	22		NA											NA				19870891		2042	4195	6237	SO:0001583	missense			AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470	10587	10587			18155	protein-coding gene	gene with protein product	thioredoxin reductase beta, selenoprotein Z	606448			NA	9923614, 10215850, 11012661	Standard	NM_006440	NM_006440	NA	Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400519.1:c.1040C>T	22.37:g.19870891G>A	ENSP00000383363:p.Ala347Val	NA	O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	37		.	.	.	.	.	.	.	.	.	.	G	11.26	1.586106	0.28268	.	.	ENSG00000184470	ENST00000400518;ENST00000538798;ENST00000400521;ENST00000400525;ENST00000540474;ENST00000400519;ENST00000535882;ENST00000542719	T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78	5.07	4.06	0.47325	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.538685	0.19402	N	0.115146	T	0.42877	0.1222	L	0.45422	1.42	0.80722	D	1	P;P	0.44090	0.826;0.826	B;B	0.37091	0.241;0.241	T	0.41431	-0.9509	10	0.56958	D	0.05	-20.6423	18.7819	0.91937	0.0:0.1189:0.881:0.0	.	348;347	Q9NNW7;D3YTF9	TRXR2_HUMAN;.	V	318;348;348;325;252;347;347;318	ENSP00000383362:A318V;ENSP00000383365:A348V;ENSP00000383369:A325V;ENSP00000383363:A347V;ENSP00000439314:A347V;ENSP00000439570:A318V	ENSP00000383362:A318V	A	-	2	0	TXNRD2	18250891	1.000000	0.71417	0.637000	0.29366	0.091000	0.18340	3.776000	0.55356	0.652000	0.30806	-1.255000	0.01485	GCC	TXNRD2-012	NOVEL	basic|appris_candidate|seleno	protein_coding	NA	protein_coding	OTTHUMT00000314921.2		-	ENST00000400519.1	Missense_Mutation	SNP	22 : 19870891 - 19870891 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	671	146
C4orf40	0	broad.mit.edu	37	4	71024336	71024336	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71024336G>A	ENST00000344526.5	+	3	556	c.367G>A	c.(367-369)Gca>Aca	p.A123T	C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Missense_Mutation_p.A123T	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN		123	Ala-rich.					extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AGCAGCTGCAGCACCCGCTGC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	107	105			NA	NA	4		NA											NA				71024336		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000344526.5:c.367G>A	4.37:g.71024336G>A	ENSP00000343172:p.Ala123Thr	NA	A8MXP0|Q6MZR6	37	CCDS3535.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.648313	0.29336	.	.	ENSG00000187533	ENST00000502294;ENST00000344526	T;T	0.32753	1.44;1.44	4.76	2.04	0.26737	.	.	.	.	.	T	0.28566	0.0707	N	0.14661	0.345	0.09310	N	1	D	0.62365	0.991	P	0.59487	0.858	T	0.08743	-1.0707	9	0.40728	T	0.16	-0.1649	6.191	0.20524	0.3191:0.0:0.6809:0.0	.	123	Q6MZM9	CD040_HUMAN	T	123	ENSP00000426249:A123T;ENSP00000343172:A123T	ENSP00000343172:A123T	A	+	1	0	C4orf40	71058925	0.003000	0.15002	0.000000	0.03702	0.078000	0.17371	0.868000	0.27982	0.548000	0.28955	0.609000	0.83330	GCA	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251558.1		+	ENST00000344526.5	Missense_Mutation	SNP	4 : 71024336 - 71024336 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	956	175
PLBD2	196463	broad.mit.edu	37	12	113825591	113825591	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113825591C>A	ENST00000545182.2	+	10	1421	c.1386C>A	c.(1384-1386)gcC>gcA	p.A462A	PLBD2_ENST00000280800.3_Silent_p.A494A	NM_001159727.1	NP_001153199.1	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	494					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TGTGCAAAGCCTGCAACCCCC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													292	282	286			NA	NA	12		NA											NA				113825591		2203	4300	6503	SO:0001819	synonymous_variant			BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176	196463	196463			27283	protein-coding gene	gene with protein product	PLB homolog 2 (Dictyostelium), mannose-6-phosphate protein associated protein p76				NA	17105447, 15193148, 19019078	Standard	NM_173542	NM_001159727	NA	Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000545182.2:c.1386C>A	12.37:g.113825591C>A		NA		37	CCDS53834.1																																																																																			PLBD2-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404834.1		+	ENST00000545182.2	Silent	SNP	12 : 113825591 - 113825591 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2741	117
FOLR3	2352	broad.mit.edu	37	11	71850826	71850826	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71850826C>T	ENST00000445078.2	+	5	880	c.809C>T	c.(808-810)gCt>gTt	p.A270V	FOLR3_ENST00000442948.2_Missense_Mutation_p.A229V|FOLR3_ENST00000456237.1_Missense_Mutation_p.A272V			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	228					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	AAGTTCTATGCTGCGGCCATG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	39	38			NA	NA	11		NA											NA				71850826		2199	4293	6492	SO:0001583	missense			U08471	CCDS73344.1	11q13.4	2012-11-14			ENSG00000110203	ENSG00000110203	2352	2352			3795	protein-coding gene	gene with protein product		602469			NA	8110752	Standard	NM_000804	NM_000804	NA	Approved	FR-G	uc001orx.1	P41439	OTTHUMG00000167870	ENST00000445078.2:c.809C>T	11.37:g.71850826C>T	ENSP00000390338:p.Ala270Val	NA		37		.	.	.	.	.	.	.	.	.	.	N	12.66	2.005899	0.35415	.	.	ENSG00000110203	ENST00000445078;ENST00000456237;ENST00000442948	T;T;T	0.75477	-0.7;-0.7;-0.94	2.94	2.94	0.34122	.	0.329884	0.24267	U	0.040024	D	0.83505	0.5269	.	.	.	0.39347	D	0.965682	D;D	0.89917	0.997;1.0	D;D	0.76071	0.985;0.987	D	0.84804	0.0786	8	.	.	.	.	11.6457	0.51259	0.0:1.0:0.0:0.0	.	272;228	E9PGT2;P41439	.;FOLR3_HUMAN	V	270;272;229	ENSP00000390338:A270V;ENSP00000399235:A272V;ENSP00000411161:A229V	.	A	+	2	0	FOLR3	71528474	0.991000	0.36638	0.144000	0.22314	0.029000	0.11900	3.037000	0.49775	1.638000	0.50547	0.467000	0.42956	GCT	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	NA	protein_coding	OTTHUMT00000396739.1		+	ENST00000445078.2	Missense_Mutation	SNP	11 : 71850826 - 71850826 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	39
RNF115	27246	broad.mit.edu	37	1	145663313	145663313	+	Missense_Mutation	SNP	G	G	A	rs148749353		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145663313G>A	ENST00000369291.5	+	4	578	c.374G>A	c.(373-375)cGg>cAg	p.R125Q		NM_014455.2	NP_055270.1	Q9Y4L5	RN115_HUMAN	ring finger protein 115	NA					protein autoubiquitination	cytosol	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						CCATTGGGTCGGAGATACAGA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	GLN/ARG	0,4406		0,0,2203	99	93	95		374	2.1	0.9	1	dbSNP_134	95	2,8598	2.2+/-6.3	0,2,4298	no	missense	RNF115	NM_014455.2	43	0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154	benign	125/305	145663313	2,13004	2203	4300	6503	SO:0001583	missense			AF419857	CCDS72863.1	1q12	2013-01-09	2008-06-16	2008-06-16	ENSG00000121848	ENSG00000265491	27246	27246		RING-type (C3HC4) zinc fingers	18154	protein-coding gene	gene with protein product			zinc finger protein 364	ZNF364	NA		Standard	NM_014455	NM_014455	NA	Approved	CL469780	uc001eoj.3	Q9Y4L5	OTTHUMG00000013758	ENST00000369291.5:c.374G>A	1.37:g.145663313G>A	ENSP00000358297:p.Arg125Gln	NA	A8K3Y4|Q5T2V9|Q7Z2J2	37	CCDS922.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.298000	0.23650	0.0	2.33E-4	ENSG00000121848	ENST00000369291	T	0.12361	2.69	5.14	2.14	0.27477	.	0.120515	0.53938	N	0.000056	T	0.01940	0.0061	N	0.08118	0	0.34876	D	0.744124	B	0.10296	0.003	B	0.04013	0.001	T	0.44559	-0.9320	10	0.27082	T	0.32	-4.4071	8.2455	0.31686	0.2735:0.0:0.7265:0.0	.	125	Q9Y4L5	RN115_HUMAN	Q	125	ENSP00000358297:R125Q	ENSP00000358297:R125Q	R	+	2	0	RNF115	144374670	1.000000	0.71417	0.921000	0.36526	0.519000	0.34347	2.408000	0.44574	0.288000	0.22398	0.655000	0.94253	CGG	RNF115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000038554.2		+	ENST00000369291.5	Missense_Mutation	SNP	1 : 145663313 - 145663313 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	491	41
PIK3R4	30849	broad.mit.edu	37	3	130454718	130454718	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130454718C>A	ENST00000356763.3	-	3	1419	c.862G>T	c.(862-864)Gaa>Taa	p.E288*		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	288	Protein kinase.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GTTACCAATTCTCTGATACTG	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	127	124			NA	NA	3		NA											NA				130454718		2203	4299	6502	SO:0001587	stop_gained			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455	30849	30849		WD repeat domain containing	8982	protein-coding gene	gene with protein product		602610			NA	8999962	Standard	NM_014602	NM_014602	NA	Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.862G>T	3.37:g.130454718C>A	ENSP00000349205:p.Glu288*	NA	Q2TBF4	37	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	C	43	9.832098	0.99275	.	.	ENSG00000196455	ENST00000356763	.	.	.	5.48	5.48	0.80851	.	0.262537	0.42964	D	0.000632	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-16.9242	15.2285	0.73369	0.0:0.8598:0.1402:0.0	.	.	.	.	X	288	.	ENSP00000349205:E288X	E	-	1	0	PIK3R4	131937408	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	3.138000	0.50570	2.732000	0.93576	0.591000	0.81541	GAA	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356668.1		-	ENST00000356763.3	Nonsense_Mutation	SNP	3 : 130454718 - 130454718 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	69
VWA3B	200403	broad.mit.edu	37	2	98709695	98709695	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98709695G>A	ENST00000477737.1	+	2	344	c.140G>A	c.(139-141)aGc>aAc	p.S47N	VWA3B_ENST00000435344.1_Missense_Mutation_p.S47N|VWA3B_ENST00000451075.2_5'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	47										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GGGCTTAAGAGCAACAAATTG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	119	122			NA	NA	2		NA											NA				98709695		1969	4160	6129	SO:0001583	missense			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658	200403	200403			28385	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_144992	NM_144992	NA	Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.140G>A	2.37:g.98709695G>A	ENSP00000417955:p.Ser47Asn	NA	B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	37	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.469179	0.26423	.	.	ENSG00000168658	ENST00000435344;ENST00000477737	T;T	0.38887	1.11;1.11	5.52	1.49	0.22878	.	0.364292	0.30446	N	0.009620	T	0.21103	0.0508	N	0.17474	0.49	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.16289	0.003;0.015	T	0.04347	-1.0958	10	0.25751	T	0.34	.	4.8174	0.13374	0.2586:0.3219:0.4195:0.0	.	47;47	Q502W6;Q502W6-8	VWA3B_HUMAN;.	N	47	ENSP00000401959:S47N;ENSP00000417955:S47N	ENSP00000411168:S47N	S	+	2	0	VWA3B	98076127	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.157000	0.31724	0.419000	0.25927	0.650000	0.86243	AGC	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353469.2		+	ENST00000477737.1	Missense_Mutation	SNP	2 : 98709695 - 98709695 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	712	65
NBAS	51594	broad.mit.edu	37	2	15493765	15493765	+	Missense_Mutation	SNP	C	C	T	rs140188229		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15493765C>T	ENST00000281513.5	-	34	4026	c.4001G>A	c.(4000-4002)cGt>cAt	p.R1334H	NBAS_ENST00000441750.1_Missense_Mutation_p.R1214H	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1334										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GAGCTCTTGACGAGTGGCCAA	0.453		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	179	170	173		4001	5	0.3	2	dbSNP_134	173	1,8599	1.2+/-3.3	0,1,4299	no	missense	NBAS	NM_015909.2	29	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	1334/2372	15493765	1,13005	2203	4300	6503	SO:0001583	missense			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779	51594	51594			15625	protein-coding gene	gene with protein product		608025			NA	9926938, 12706883	Standard	NM_015909	NM_015909	NA	Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.4001G>A	2.37:g.15493765C>T	ENSP00000281513:p.Arg1334His	NA	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	37	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.268487|4.268487	0.80469|0.80469	0.0|0.0	1.16E-4|1.16E-4	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513|ENST00000442506	T;T|.	0.33654|.	1.4;1.4|.	5.83|5.83	4.96|4.96	0.65561|0.65561	Secretory pathway Sec39 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74612|0.74612	0.3739|0.3739	M|M	0.77103|0.77103	2.36|2.36	0.58432|0.58432	D|D	0.999997|0.999997	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.75808|0.75808	-0.3187|-0.3187	10|5	0.87932|.	D|.	0|.	.|.	14.0714|14.0714	0.64863|0.64863	0.0:0.9265:0.0:0.0735|0.0:0.9265:0.0:0.0735	.|.	1214;1334|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	H|I	1214;1334|382	ENSP00000413201:R1214H;ENSP00000281513:R1334H|.	ENSP00000281513:R1334H|.	R|V	-|-	2|1	0|0	NBAS|NBAS	15411216|15411216	0.998000|0.998000	0.40836|0.40836	0.337000|0.337000	0.25536|0.25536	0.922000|0.922000	0.55478|0.55478	6.351000|6.351000	0.73022|0.73022	1.480000|1.480000	0.48289|0.48289	0.655000|0.655000	0.94253|0.94253	CGT|GTC	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000241638.1		-	ENST00000281513.5	Missense_Mutation	SNP	2 : 15493765 - 15493765 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	649	257
NR6A1	2649	broad.mit.edu	37	9	127306128	127306128	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127306128C>A	ENST00000487099.2	-	4	551	c.394G>T	c.(394-396)Gaa>Taa	p.E132*	NR6A1_ENST00000416460.2_Nonsense_Mutation_p.E128*|NR6A1_ENST00000344523.4_Nonsense_Mutation_p.E132*|NR6A1_ENST00000373584.3_Nonsense_Mutation_p.E128*	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	132					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						ATGCCATCTTCTCTGATAGCT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(192;272 2884 6208 20560)							NA				0													100	88	92			NA	NA	9		NA											NA				127306128		2203	4300	6503	SO:0001587	stop_gained			U64876	CCDS35137.1, CCDS55340.1, CCDS65127.1	9q33.3	2014-01-21			ENSG00000148200	ENSG00000148200	2649	2649		Nuclear hormone receptors	7985	protein-coding gene	gene with protein product		602778		GCNF	NA	9134503, 8982251	Standard		NM_001489	NA	Approved	GCNF1, RTR, CT150	uc004bor.1	Q15406	OTTHUMG00000020661	ENST00000487099.2:c.394G>T	9.37:g.127306128C>A	ENSP00000420267:p.Glu132*	NA	O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	37	CCDS35137.1	.	.	.	.	.	.	.	.	.	.	C	34	5.332443	0.95733	.	.	ENSG00000148200	ENST00000487099;ENST00000373584;ENST00000416460;ENST00000344523;ENST00000475178	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	17.7859	0.88538	0.0:1.0:0.0:0.0	.	.	.	.	X	132;128;128;132;90	.	ENSP00000341135:E132X	E	-	1	0	NR6A1	126345949	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.177000	0.77650	2.418000	0.82041	0.655000	0.94253	GAA	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054043.4		-	ENST00000487099.2	Nonsense_Mutation	SNP	9 : 127306128 - 127306128 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	214	39
SMG1	23049	broad.mit.edu	37	16	18823443	18823443	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:18823443C>T	ENST00000446231.2	-	61	11040	c.10628G>A	c.(10627-10629)cGg>cAg	p.R3543Q	SMG1_ENST00000389467.3_Missense_Mutation_p.R3544Q|RP11-1035H13.2_ENST00000569096.1_RNA			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3543					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AGTGTTACTCCGGACTGCTAC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	87	90			NA	NA	16		NA											NA				18823443		1976	4164	6140	SO:0001583	missense			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106	23049	23049			30045	protein-coding gene	gene with protein product	phosphatidylinositol 3-kinase-related kinase	607032	smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)		NA	9455477, 11331269, 17229728	Standard	NM_015092	NM_015092	NA	Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.10628G>A	16.37:g.18823443C>T	ENSP00000402515:p.Arg3543Gln	NA	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	37	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943109	0.73672	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01265	5.08;5.08	5.87	5.87	0.94306	.	0.094431	0.46758	D	0.000266	T	0.01730	0.0055	L	0.29908	0.895	0.34855	D	0.742045	P	0.49253	0.921	B	0.37780	0.258	T	0.68059	-0.5509	10	0.27082	T	0.32	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	3543	Q96Q15	SMG1_HUMAN	Q	3543;3544	ENSP00000402515:R3543Q;ENSP00000374118:R3544Q	ENSP00000374118:R3544Q	R	-	2	0	SMG1	18730944	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.481000	0.60250	2.941000	0.99782	0.655000	0.94253	CGG	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391817.1		-	ENST00000446231.2	Missense_Mutation	SNP	16 : 18823443 - 18823443 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	317	54
BVES	11149	broad.mit.edu	37	6	105549001	105549001	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:105549001G>A	ENST00000314641.5	-	8	1262	c.1046C>T	c.(1045-1047)gCa>gTa	p.A349V	BVES_ENST00000336775.5_Missense_Mutation_p.A349V|BVES_ENST00000446408.2_Missense_Mutation_p.A349V	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	349					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				ATTTGGAGATGCCGGTTCAAA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													223	192	202			NA	NA	6		NA											NA				105549001		2203	4300	6503	SO:0001583	missense			AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276	11149	11149			1152	protein-coding gene	gene with protein product	popeye domain containing 1	604577			NA	10441744, 10882522	Standard	NM_147147	NM_147147	NA	Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.1046C>T	6.37:g.105549001G>A	ENSP00000313172:p.Ala349Val	NA	A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	37	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.726162	0.30593	.	.	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.17691	2.26;2.26;2.26	5.3	-5.02	0.02982	.	1.955520	0.02132	N	0.056510	T	0.01287	0.0042	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37641	-0.9697	10	0.11794	T	0.64	-11.7194	8.1452	0.31108	0.2685:0.0:0.5878:0.1437	.	349	Q8NE79	POPD1_HUMAN	V	349	ENSP00000313172:A349V;ENSP00000337259:A349V;ENSP00000397310:A349V	ENSP00000313172:A349V	A	-	2	0	BVES	105655694	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.463000	0.02361	-0.393000	0.07739	-0.300000	0.09419	GCA	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406075.1		-	ENST00000314641.5	Missense_Mutation	SNP	6 : 105549001 - 105549001 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	397	92
ZNF492	57615	broad.mit.edu	37	19	22847718	22847718	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22847718C>A	ENST00000456783.2	+	4	1491	c.1247C>A	c.(1246-1248)aCt>aAt	p.T416N		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ATAATTCATACTGGAGAGAAA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	41	40			NA	NA	19		NA											NA				22847718		2114	4253	6367	SO:0001583	missense			AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676	57615	57615		Zinc fingers, C2H2-type	23707	protein-coding gene	gene with protein product			zinc finger protein 115 (Y20)	ZNF115	NA	10819331	Standard	NM_020855	NM_020855	NA	Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1247C>A	19.37:g.22847718C>A	ENSP00000413660:p.Thr416Asn	NA	Q08EI7|Q08EI8	37	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	15.15	2.747685	0.49257	.	.	ENSG00000229676	ENST00000456783	T	0.26067	1.76	1.12	1.12	0.20585	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34803	0.0910	L	0.53729	1.69	0.32544	N	0.533216	P	0.47545	0.897	P	0.55303	0.773	T	0.46470	-0.9189	9	0.72032	D	0.01	.	7.4251	0.27094	0.0:1.0:0.0:0.0	.	416	Q9P255	ZN492_HUMAN	N	416	ENSP00000413660:T416N	ENSP00000413660:T416N	T	+	2	0	ZNF492	22639558	0.714000	0.27936	0.069000	0.20011	0.069000	0.16628	1.214000	0.32419	0.269000	0.21961	0.274000	0.19336	ACT	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464581.1		+	ENST00000456783.2	Missense_Mutation	SNP	19 : 22847718 - 22847718 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	309	23
FBN2	2201	broad.mit.edu	37	5	127622437	127622437	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127622437G>A	ENST00000508053.1	-	61	7959	c.6985C>T	c.(6985-6987)Cga>Tga	p.R2329*	FBN2_ENST00000262464.4_Nonsense_Mutation_p.R2329*			P35556	FBN2_HUMAN	fibrillin 2	2329	EGF-like 39; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCGGGCCTTCGGGCCATTCCA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	123	131			NA	NA	5		NA											NA				127622437		2203	4300	6503	SO:0001587	stop_gained			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829	2201	2201			3604	protein-coding gene	gene with protein product	fibrillin 5	612570	congenital contractural arachnodactyly	CCA	NA	1852206, 8120105	Standard	NM_001999	NM_001999	NA	Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.6985C>T	5.37:g.127622437G>A	ENSP00000424571:p.Arg2329*	NA	B4DU01|Q59ES6	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	50	16.171019	0.99856	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	.	.	.	5.34	4.44	0.53790	.	0.116516	0.39083	N	0.001464	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5877	0.76499	0.0:0.0:0.8614:0.1386	.	.	.	.	X	2329	.	ENSP00000262464:R2329X	R	-	1	2	FBN2	127650336	0.997000	0.39634	0.992000	0.48379	0.481000	0.33189	4.601000	0.61090	1.557000	0.49525	0.650000	0.86243	CGA	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000371618.2		-	ENST00000508053.1	Nonsense_Mutation	SNP	5 : 127622437 - 127622437 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	318	54
DNAH11	8701	broad.mit.edu	37	7	21805045	21805045	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21805045G>A	ENST00000409508.3	+	55	8971		c.e55-1		DNAH11_ENST00000328843.6_Splice_Site	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	NA					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGTCTCCACAGATCATTTTGT	0.483		NA							Kartagener syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Unknown(1)	lung(1)											168	162	164			NA	NA	7		NA											NA				21805045		2022	4203	6225	SO:0001630	splice_region_variant	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04				8701	8701		Axonemal dyneins	2942	protein-coding gene	gene with protein product	dynein, ciliary, heavy chain 11, dynein, heavy chain beta-like	603339	dynein, axonemal, heavy polypeptide 11		NA	9256245	Standard	NM_003777	NM_001277115	NA	Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.8941-1G>A	7.37:g.21805045G>A		NA	Q9UJ82	37		.	.	.	.	.	.	.	.	.	.	G	28.3	4.911606	0.92178	.	.	ENSG00000105877	ENST00000328843	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9787	0.97318	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH11	21771570	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	7.582000	0.82546	2.719000	0.93026	0.555000	0.69702	.	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000326582.6	Intron	+	ENST00000409508.3	Splice_Site	SNP	7 : 21805045 - 21805045 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	715	49
POLE	5426	broad.mit.edu	37	12	133253184	133253184	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133253184G>C	ENST00000320574.5	-	9	900	c.857C>G	c.(856-858)cCt>cGt	p.P286R	POLE_ENST00000535270.1_Missense_Mutation_p.P259R	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	286					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	p.P286H(1)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CTCAGCATCAGGAAACTTGAG	0.493		NA						DNA polymerases (catalytic subunits)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											115	99	104			NA	NA	12		NA											NA				133253184		2203	4300	6503	SO:0001583	missense				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084	5426	5426		DNA polymerases	9177	protein-coding gene	gene with protein product	DNA polymerase epsilon catalytic subunit A	174762	polymerase (DNA directed), epsilon		NA	8020968	Standard	NM_006231	NM_006231	NA	Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.857C>G	12.37:g.133253184G>C	ENSP00000322570:p.Pro286Arg	NA	Q13533|Q86VH9	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.974541	0.92919	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.49	5.49	0.81192	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.77598	0.4154	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.83192	-0.0083	10	0.87932	D	0	.	19.3785	0.94521	0.0:0.0:1.0:0.0	.	259;286	F5H1D6;Q07864	.;DPOE1_HUMAN	R	286;297;259;66;221	ENSP00000322570:P286R;ENSP00000406383:P297R;ENSP00000445753:P259R;ENSP00000442519:P66R	ENSP00000322570:P286R	P	-	2	0	POLE	131763257	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.762000	0.98944	2.566000	0.86566	0.561000	0.74099	CCT	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397689.2		-	ENST00000320574.5	Missense_Mutation	SNP	12 : 133253184 - 133253184 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	288	43
GALNT1	2589	broad.mit.edu	37	18	33234660	33234660	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33234660G>T	ENST00000269195.5	+	1	137	c.34G>T	c.(34-36)Gcc>Tcc	p.A12S	GALNT1_ENST00000591081.1_Missense_Mutation_p.A12S|GALNT1_ENST00000537549.1_5'UTR	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	12					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						GGTGGTCCTAGCCACCTCCTT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	75	81			NA	NA	18		NA											NA				33234660		2203	4300	6503	SO:0001583	missense				CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2589	2589	2.4.1.41	Glycosyltransferase family 2 domain containing	4123	protein-coding gene	gene with protein product	protein-UDP acetylgalactosaminyltransferase 1, polypeptide GalNAc transferase 1	602273	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)		NA	7592619, 12199709	Standard	NM_020474	NM_020474	NA	Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.34G>T	18.37:g.33234660G>T	ENSP00000269195:p.Ala12Ser	NA	Q86TJ7|Q9UM86	37	CCDS11915.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.110703	0.56398	.	.	ENSG00000141429	ENST00000537748;ENST00000269195	T	0.55760	0.5	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.60287	0.2257	M	0.65498	2.005	0.80722	D	1	P	0.38148	0.62	B	0.43575	0.424	T	0.60900	-0.7171	10	0.51188	T	0.08	.	17.6198	0.88077	0.0:0.0:1.0:0.0	.	12	Q10472	GALT1_HUMAN	S	12	ENSP00000269195:A12S	ENSP00000269195:A12S	A	+	1	0	GALNT1	31488658	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.819000	0.62664	2.749000	0.94314	0.655000	0.94253	GCC	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255771.2		+	ENST00000269195.5	Missense_Mutation	SNP	18 : 33234660 - 33234660 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	135	28
IREB2	3658	broad.mit.edu	37	15	78780532	78780532	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78780532T>C	ENST00000258886.8	+	15	1954	c.1805T>C	c.(1804-1806)gTt>gCt	p.V602A		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	602							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GGTGATTTGGTTACCTGTGGA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(200;764 2208 35157 49871 50830)							NA				0													124	130	128			NA	NA	15		NA											NA				78780532		2195	4293	6488	SO:0001583	missense			M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381	3658	3658			6115	protein-coding gene	gene with protein product		147582			NA	2172968	Standard	NM_004136	NM_004136	NA	Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.1805T>C	15.37:g.78780532T>C	ENSP00000258886:p.Val602Ala	NA	A8KAC7|Q13095|Q1HE21|Q59FQ7|Q9UF17	37	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	T	18.14	3.557804	0.65425	.	.	ENSG00000136381	ENST00000258886	T	0.44881	0.91	5.05	5.05	0.67936	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.175846	0.49305	D	0.000148	T	0.51432	0.1674	M	0.86178	2.8	0.80722	D	1	P	0.45569	0.861	B	0.42214	0.38	T	0.62006	-0.6945	10	0.54805	T	0.06	.	14.8033	0.69932	0.0:0.0:0.0:1.0	.	602	P48200	IREB2_HUMAN	A	602	ENSP00000258886:V602A	ENSP00000258886:V602A	V	+	2	0	IREB2	76567587	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.807000	0.86032	1.905000	0.55150	0.528000	0.53228	GTT	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000290109.3		+	ENST00000258886.8	Missense_Mutation	SNP	15 : 78780532 - 78780532 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	601	106
EFTUD1	79631	broad.mit.edu	37	15	82532772	82532772	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:82532772T>G	ENST00000268206.7	-	6	671	c.503A>C	c.(502-504)aAt>aCt	p.N168T	EFTUD1_ENST00000359445.3_Missense_Mutation_p.N117T	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	168					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TTCTAAAATATTCTTGAGGTG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	32	33			NA	NA	15		NA											NA				82532772		1790	4067	5857	SO:0001583	missense			AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598	79631	79631			25789	protein-coding gene	gene with protein product	ribosome assembly 1 homolog (yeast)				NA	14702039	Standard	NM_024580	NM_024580	NA	Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.503A>C	15.37:g.82532772T>G	ENSP00000268206:p.Asn168Thr	NA	A6NKY5|B7Z6I0|Q9H8Z6	37	CCDS42071.1	.	.	.	.	.	.	.	.	.	.	T	16.03	3.006488	0.54361	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.75938	-0.98;-0.98	4.01	4.01	0.46588	Protein synthesis factor, GTP-binding (1);	0.102941	0.40302	U	0.001139	T	0.64238	0.2580	N	0.26162	0.8	0.44899	D	0.997911	B;B	0.32693	0.38;0.142	B;B	0.36030	0.205;0.216	T	0.68435	-0.5409	10	0.66056	D	0.02	.	12.5358	0.56140	0.0:0.0:0.0:1.0	.	117;168	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	T	168;117	ENSP00000268206:N168T;ENSP00000352418:N117T	ENSP00000268206:N168T	N	-	2	0	EFTUD1	80319827	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.423000	0.80229	1.804000	0.52760	0.438000	0.28831	AAT	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419252.1		-	ENST00000268206.7	Missense_Mutation	SNP	15 : 82532772 - 82532772 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	75	10
OGDH	4967	broad.mit.edu	37	7	44747483	44747483	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44747483C>A	ENST00000449767.1	+	23	3035	c.2945C>A	c.(2944-2946)gCc>gAc	p.A982D	OGDH_ENST00000444676.1_Missense_Mutation_p.A1001D|OGDH_ENST00000447398.1_Missense_Mutation_p.A997D|OGDH_ENST00000543843.1_Missense_Mutation_p.A937D|OGDH_ENST00000439616.2_Missense_Mutation_p.A836D|OGDH_ENST00000222673.5_Missense_Mutation_p.A986D	NM_001165036.1	NP_001158508.1	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	986					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CTCAGGTATGCCGGCCGGGAC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	43	43			NA	NA	7		NA											NA				44747483		2203	4300	6503	SO:0001583	missense			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	4967	4967	1.2.4.2		8124	protein-coding gene	gene with protein product		613022			NA	8020988, 1542694	Standard		NM_002541	NA	Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000449767.1:c.2945C>A	7.37:g.44747483C>A	ENSP00000392878:p.Ala982Asp	NA	D3DVL0|Q9UDX0	37	CCDS55107.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924983	0.52759	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	T;T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72;2.72	5.0	4.11	0.48088	.	0.106700	0.64402	D	0.000006	T	0.30947	0.0781	M	0.93507	3.425	0.51482	D	0.999925	B;B;B;B;B	0.29955	0.167;0.263;0.071;0.071;0.071	B;B;B;B;B	0.35182	0.13;0.197;0.128;0.128;0.128	T	0.31223	-0.9951	10	0.87932	D	0	-13.4744	13.1166	0.59303	0.0:0.9208:0.0:0.0792	.	781;836;982;997;986	B4E3E9;E9PFG7;E9PBM1;E9PDF2;Q02218	.;.;.;.;ODO1_HUMAN	D	836;982;997;1001;986;937	ENSP00000398576:A836D;ENSP00000392878:A982D;ENSP00000388183:A997D;ENSP00000414662:A1001D;ENSP00000222673:A986D;ENSP00000443821:A937D	ENSP00000222673:A986D	A	+	2	0	OGDH	44714008	0.975000	0.34042	0.441000	0.26858	0.913000	0.54294	2.416000	0.44644	1.233000	0.43693	0.313000	0.20887	GCC	OGDH-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339392.1		+	ENST00000449767.1	Missense_Mutation	SNP	7 : 44747483 - 44747483 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	456	38
IGSF9B	22997	broad.mit.edu	37	11	133790142	133790142	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133790142C>T	ENST00000533871.2	-	18	3708	c.3478G>A	c.(3478-3480)Ggc>Agc	p.G1160S	IGSF9B_ENST00000321016.8_Missense_Mutation_p.G1160S	NM_001277285.1	NP_001264214.1	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1160	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GTGCTGGGGCCGCCGTGCGCC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	35	33			NA	NA	11		NA											NA				133790142		1911	4108	6019	SO:0001583	missense			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20			22997	22997		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	32326	protein-coding gene	gene with protein product		613773			NA		Standard	XM_290502	NM_001277285	NA	Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000533871.2:c.3478G>A	11.37:g.133790142C>T	ENSP00000436552:p.Gly1160Ser	NA		37		.	.	.	.	.	.	.	.	.	.	C	12.56	1.975668	0.34848	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.63417	0.3;-0.04	5.08	5.08	0.68730	.	0.000000	0.45606	D	0.000349	T	0.40862	0.1134	N	0.04508	-0.205	0.44323	D	0.997206	B	0.28082	0.2	B	0.20184	0.028	T	0.32348	-0.9910	10	0.28530	T	0.3	.	18.0591	0.89371	0.0:1.0:0.0:0.0	.	1160	Q9UPX0	TUTLB_HUMAN	S	1160;1002	ENSP00000317980:G1160S;ENSP00000436552:G1002S	ENSP00000317980:G1160S	G	-	1	0	IGSF9B	133295352	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	4.422000	0.59854	2.358000	0.79984	0.455000	0.32223	GGC	IGSF9B-002	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000471431.1		-	ENST00000533871.2	Missense_Mutation	SNP	11 : 133790142 - 133790142 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	531	102
GJA9	81025	broad.mit.edu	37	1	39340391	39340391	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39340391T>C	ENST00000360786.3	-	1	1632	c.1380A>G	c.(1378-1380)ggA>ggG	p.G460G	RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000443161.1_RNA|MYCBP_ENST00000489803.1_5'UTR|GJA9_ENST00000454994.2_Intron|RP5-864K19.4_ENST00000433671.2_RNA|GJA9_ENST00000357771.3_Silent_p.G460G			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	460					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			ATTGAGAATCTCCTTGTGAAG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	122	123			NA	NA	1		NA											NA				39340391		2203	4300	6503	SO:0001819	synonymous_variant			AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233	81025	81025		Ion channels / Gap junction proteins (connexins)	19155	protein-coding gene	gene with protein product	connexin 59	611923	gap junction protein, alpha 10, 59kDa	GJA10	NA		Standard	NM_030772	NM_030772	NA	Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.1380A>G	1.37:g.39340391T>C		NA	B2R722|B3KVQ2|Q5TA63|Q96KG0	37	CCDS432.1																																																																																			GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000001205.1		-	ENST00000360786.3	Silent	SNP	1 : 39340391 - 39340391 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	416	49
MED10	84246	broad.mit.edu	37	5	6372625	6372625	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:6372625C>T	ENST00000255764.3	-	4	509	c.399G>A	c.(397-399)ccG>ccA	p.P133P		NM_032286.2	NP_115662.2	Q9BTT4	MED10_HUMAN	mediator complex subunit 10	133					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						GTTAAGAAGGCGGGTGATCCT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	109	110			NA	NA	5		NA											NA				6372625		2203	4300	6503	SO:0001819	synonymous_variant				CCDS34134.1	5p15.31	2008-02-05	2007-07-30		ENSG00000133398	ENSG00000133398	84246	84246			28760	protein-coding gene	gene with protein product	NUT2 homolog (S. cerevisiae)	612382	mediator of RNA polymerase II transcription, subunit 10 homolog (NUT2, S. cerevisiae)		NA	15657623, 15175163	Standard	NM_032286	NM_032286	NA	Approved	TRG20, L6, MGC5309, NUT2	uc003jdo.3	Q9BTT4	OTTHUMG00000161682	ENST00000255764.3:c.399G>A	5.37:g.6372625C>T		NA	C6G491	37	CCDS34134.1																																																																																			MED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365714.1		-	ENST00000255764.3	Silent	SNP	5 : 6372625 - 6372625 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	408	45
OR14C36	127066	broad.mit.edu	37	1	248512485	248512485	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248512485C>T	ENST00000317861.1	+	1	409	c.409C>T	c.(409-411)Cga>Tga	p.R137*		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CGTGAACTCTCGAATCTGCAT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	86	91			NA	NA	1		NA											NA				248512485		2203	4300	6503	SO:0001587	stop_gained			BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174	127066	127066		GPCR / Class A : Olfactory receptors	15026	protein-coding gene	gene with protein product			olfactory receptor, family 5, subfamily BF, member 1	OR5BF1	NA		Standard	NM_001001918	NM_001001918	NA	Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.409C>T	1.37:g.248512485C>T	ENSP00000324534:p.Arg137*	NA	Q6IEZ6	37	CCDS31112.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430346	0.62844	.	.	ENSG00000177174	ENST00000317861	.	.	.	4.05	1.93	0.25924	.	1.246200	0.06113	N	0.667560	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2541	0.49043	0.4719:0.5281:0.0:0.0	.	.	.	.	X	137	.	ENSP00000324534:R137X	R	+	1	2	OR14C36	246579108	0.000000	0.05858	0.001000	0.08648	0.715000	0.41141	-0.209000	0.09358	0.879000	0.35944	0.395000	0.25975	CGA	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097359.1		+	ENST00000317861.1	Nonsense_Mutation	SNP	1 : 248512485 - 248512485 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	97
PCDHB1	29930	broad.mit.edu	37	5	140432001	140432001	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140432001G>A	ENST00000306549.3	+	1	1023	c.946G>A	c.(946-948)Gac>Aac	p.D316N		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	316	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAAACATACGACATTGACAT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	113	114			NA	NA	5		NA											NA				140432001		2203	4300	6503	SO:0001583	missense			AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815	29930	29930		Cadherins / Protocadherins : Clustered	8680	other	protocadherin		606327			NA	10380929	Standard	NM_013340	NM_013340	NA	Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.946G>A	5.37:g.140432001G>A	ENSP00000307234:p.Asp316Asn	NA	Q2M257	37	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957179	0.53293	.	.	ENSG00000171815	ENST00000306549	T	0.01725	4.67	6.17	5.3	0.74995	Cadherin (5);Cadherin-like (1);	0.000000	0.49916	D	0.000133	T	0.01222	0.0040	N	0.01522	-0.82	0.36095	D	0.843752	D	0.53151	0.958	P	0.46275	0.51	T	0.74569	-0.3622	10	0.33940	T	0.23	.	13.4394	0.61104	0.1218:0.0:0.8782:0.0	.	316	Q9Y5F3	PCDB1_HUMAN	N	316	ENSP00000307234:D316N	ENSP00000307234:D316N	D	+	1	0	PCDHB1	140412185	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	3.633000	0.54295	2.941000	0.99782	0.655000	0.94253	GAC	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251822.2		+	ENST00000306549.3	Missense_Mutation	SNP	5 : 140432001 - 140432001 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	549	92
SH3BP5L	80851	broad.mit.edu	37	1	249108782	249108782	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:249108782G>A	ENST00000366472.5	-	5	1632	c.403C>T	c.(403-405)Ctg>Ttg	p.L135L	SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Silent_p.L103L	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	135										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TCGTACCGCAGCGCTGCCTTC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	71	78			NA	NA	1		NA											NA				249108782		2203	4300	6503	SO:0001819	synonymous_variant			AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137	80851	80851			29360	protein-coding gene	gene with protein product					NA		Standard	NM_030645	NM_030645	NA	Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.403C>T	1.37:g.249108782G>A		NA	Q96FI5|Q9BQH8|Q9C0E3	37	CCDS31126.1																																																																																			SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097140.1		-	ENST00000366472.5	Silent	SNP	1 : 249108782 - 249108782 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	334	20
KDM1B	221656	broad.mit.edu	37	6	18215253	18215253	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18215253C>A	ENST00000297792.5	+	16	1606	c.1429C>A	c.(1429-1431)Ctg>Atg	p.L477M	KDM1B_ENST00000546309.2_5'UTR|KDM1B_ENST00000388870.2_Missense_Mutation_p.L710M|KDM1B_ENST00000397244.1_Missense_Mutation_p.L478M			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	709					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						GCACAGCGTGCTGATGTCTGT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	74	75			NA	NA	6		NA											NA				18215253		2203	4300	6503	SO:0001583	missense			AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097	221656	221656		Chromatin-modifying enzymes / K-demethylases	21577	protein-coding gene	gene with protein product		613081	amine oxidase, flavin containing 1, chromosome 6 open reading frame 193, amine oxidase (flavin containing) domain 1	C6orf193, AOF1	NA	19407342, 19727073	Standard	NM_153042	NM_153042	NA	Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1429C>A	6.37:g.18215253C>A	ENSP00000297792:p.Leu477Met	NA	A2A2C5|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	37	CCDS34343.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.68|16.68	3.189827|3.189827	0.57909|0.57909	.|.	.|.	ENSG00000165097|ENSG00000165097	ENST00000449850|ENST00000388870;ENST00000397244;ENST00000297792;ENST00000388869	.|D;D;D	.|0.95788	.|-3.81;-3.81;-3.81	5.99|5.99	-7.43|-7.43	0.01383|0.01383	.|Amine oxidase (1);	.|0.000000	.|0.64402	.|D	.|0.000001	.|D	.|0.97586	.|0.9209	H|H	0.95745|0.95745	3.715|3.715	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;0.998	.|D;D;D	.|0.97110	.|0.997;1.0;0.991	.|D	.|0.97776	.|1.0229	.|10	.|0.72032	.|D	.|0.01	-15.261|-15.261	18.1844|18.1844	0.89788|0.89788	0.0:0.2132:0.0:0.7868|0.0:0.2132:0.0:0.7868	.|.	.|526;709;477	.|A2A2C4;Q8NB78;A2A2C6	.|.;KDM1B_HUMAN;.	X|M	526|710;478;477;707	.|ENSP00000373522:L710M;ENSP00000380419:L478M;ENSP00000297792:L477M	.|ENSP00000297792:L477M	C|L	+|+	3|1	2|2	KDM1B|KDM1B	18323232|18323232	0.968000|0.968000	0.33430|0.33430	0.539000|0.539000	0.28077|0.28077	0.688000|0.688000	0.40055|0.40055	0.250000|0.250000	0.18235|0.18235	-1.606000|-1.606000	0.01591|0.01591	-0.806000|-0.806000	0.03193|0.03193	TGC|CTG	KDM1B-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277080.1		+	ENST00000297792.5	Missense_Mutation	SNP	6 : 18215253 - 18215253 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	61
DIP2C	22982	broad.mit.edu	37	10	395334	395334	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:395334C>T	ENST00000280886.6	-	25	3133	c.3046G>A	c.(3046-3048)Gtg>Atg	p.V1016M		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1016						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ATCAGCATCACGGCGATCTTC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	87	97			NA	NA	10		NA											NA				395334		2203	4300	6503	SO:0001583	missense			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240	22982	22982			29150	protein-coding gene	gene with protein product		611380	KIAA0934	KIAA0934	NA		Standard	NM_014974	NM_014974	NA	Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3046G>A	10.37:g.395334C>T	ENSP00000280886:p.Val1016Met	NA	Q5SS78	37	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.248310	0.59103	.	.	ENSG00000151240	ENST00000280886	T	0.40756	1.02	5.18	5.18	0.71444	AMP-dependent synthetase/ligase (1);	0.128780	0.53938	D	0.000058	T	0.37999	0.1024	L	0.27053	0.805	0.80722	D	1	P	0.38992	0.653	B	0.42112	0.376	T	0.11966	-1.0566	10	0.31617	T	0.26	-26.3503	18.7109	0.91656	0.0:1.0:0.0:0.0	.	1016	Q9Y2E4	DIP2C_HUMAN	M	1016	ENSP00000280886:V1016M	ENSP00000280886:V1016M	V	-	1	0	DIP2C	385334	1.000000	0.71417	0.982000	0.44146	0.387000	0.30353	4.918000	0.63376	2.409000	0.81822	0.563000	0.77884	GTG	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046389.1		-	ENST00000280886.6	Missense_Mutation	SNP	10 : 395334 - 395334 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	330	48
ERBB4	2066	broad.mit.edu	37	2	212251629	212251629	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212251629C>A	ENST00000342788.4	-	27	3740	c.3430G>T	c.(3430-3432)Gag>Tag	p.E1144*	ERBB4_ENST00000402597.1_Nonsense_Mutation_p.E1134*|ERBB4_ENST00000436443.1_Nonsense_Mutation_p.E1128*	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1144					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TCATCCAGCTCTCCTCGTGGG	0.527		NA								TSP Lung(8;0.080)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	151	155			NA	NA	2		NA											NA				212251629		2203	4300	6503	SO:0001587	stop_gained			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568	2066	2066			3432	protein-coding gene	gene with protein product		600543	v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4		NA	7700649, 17018285	Standard	NM_001042599	NM_001042599	NA	Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3430G>T	2.37:g.212251629C>A	ENSP00000342235:p.Glu1144*	NA	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	37	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	C	40	8.171377	0.98688	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	.	.	.	5.6	5.6	0.85130	.	0.174945	0.49916	D	0.000132	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	19.6171	0.95638	0.0:1.0:0.0:0.0	.	.	.	.	X	1144;1128;1134	.	ENSP00000342235:E1144X	E	-	1	0	ERBB4	211959874	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.396000	0.66297	2.638000	0.89438	0.462000	0.41574	GAG	ERBB4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256597.1		-	ENST00000342788.4	Nonsense_Mutation	SNP	2 : 212251629 - 212251629 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	566	46
ARHGAP5	394	broad.mit.edu	37	14	32560065	32560065	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:32560065G>T	ENST00000345122.3	+	2	505	c.190G>T	c.(190-192)Gga>Tga	p.G64*	ARHGAP5_ENST00000556611.1_Nonsense_Mutation_p.G64*|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Nonsense_Mutation_p.G64*|ARHGAP5_ENST00000539826.2_Nonsense_Mutation_p.G64*|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	64					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TGACTTTGGAGGACGAGTAGT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(9;77 350 3443 29227 41353)							NA				0													137	133	134			NA	NA	14		NA											NA				32560065		2203	4300	6503	SO:0001587	stop_gained			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05					394	394		Rho GTPase activating proteins	675	protein-coding gene	gene with protein product		602680	growth factor independent 2	GFI2	NA	8537347	Standard	NM_001030055	XM_005267635	NA	Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.190G>T	14.37:g.32560065G>T	ENSP00000371897:p.Gly64*	NA	A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	37	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055869	0.76074	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921;ENST00000556191	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.5028	0.95103	0.0:0.0:1.0:0.0	.	.	.	.	X	64	.	ENSP00000371897:G64X	G	+	1	0	ARHGAP5	31629816	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.595000	0.87683	0.650000	0.86243	GGA	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409735.1		+	ENST00000345122.3	Nonsense_Mutation	SNP	14 : 32560065 - 32560065 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	664	96
GAL3ST4	79690	broad.mit.edu	37	7	99758090	99758090	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99758090C>T	ENST00000360039.4	-	4	1314	c.922G>A	c.(922-924)Gat>Aat	p.D308N	GAL3ST4_ENST00000413800.1_Missense_Mutation_p.D308N|GAL3ST4_ENST00000411994.1_Silent_p.S206S|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.D246N|GAL3ST4_ENST00000423751.1_Silent_p.S206S	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	308					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AATGACTCATCGAAGTACTCA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	95	97			NA	NA	7		NA											NA				99758090		2203	4300	6503	SO:0001583	missense			AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093	79690	79690		Sulfotransferases, membrane-bound	24145	protein-coding gene	gene with protein product		608235			NA	11333265	Standard	NM_024637	NM_024637	NA	Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.922G>A	7.37:g.99758090C>T	ENSP00000353142:p.Asp308Asn	NA	A4D2A8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	37	CCDS5688.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922195	0.92319	.	.	ENSG00000197093	ENST00000413800;ENST00000360039;ENST00000426974	T;T;T	0.26518	1.73;1.73;1.73	4.82	4.82	0.62117	.	0.000000	0.85682	U	0.000000	T	0.51770	0.1694	M	0.78344	2.41	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.74023	0.978;0.982	T	0.55535	-0.8126	10	0.62326	D	0.03	-9.5784	15.4362	0.75149	0.0:1.0:0.0:0.0	.	246;308	B4DWL8;Q96RP7	.;G3ST4_HUMAN	N	308;308;246	ENSP00000400451:D308N;ENSP00000353142:D308N;ENSP00000398304:D246N	ENSP00000353142:D308N	D	-	1	0	GAL3ST4	99596026	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.638000	0.83328	2.518000	0.84900	0.511000	0.50034	GAT	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337495.2		-	ENST00000360039.4	Missense_Mutation	SNP	7 : 99758090 - 99758090 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	740	146
MAN2B2	23324	broad.mit.edu	37	4	6599013	6599013	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6599013C>T	ENST00000285599.3	+	8	1267	c.1231C>T	c.(1231-1233)Cgc>Tgc	p.R411C	MAN2B2_ENST00000504248.1_Missense_Mutation_p.R360C	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	411					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CCAGCAGCTTCGCTGGGCCGT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG	1,4403		0,1,2201	32	37	35		1231	4.4	1	4		35	0,8594		0,0,4297	no	missense	MAN2B2	NM_015274.1	180	0,1,6498	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging	411/1010	6599013	1,12997	2202	4297	6499	SO:0001583	missense			BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288	23324	23324			29623	protein-coding gene	gene with protein product	core-specific lysosomal alpha-1,6-Mannosidase				NA	10231032, 16115860	Standard	NM_015274	XR_241647	NA	Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.1231C>T	4.37:g.6599013C>T	ENSP00000285599:p.Arg411Cys	NA	Q66MP2|Q86T67	37	CCDS33951.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900586	0.72754	2.27E-4	0.0	ENSG00000013288	ENST00000285599;ENST00000504248	T;T	0.77358	-1.09;-1.09	5.27	4.42	0.53409	Glycoside hydrolase, family 38, central domain (2);	0.171581	0.51477	D	0.000090	D	0.90400	0.6995	H	0.96301	3.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	D	0.90863	0.4740	10	0.87932	D	0	-28.4917	8.4584	0.32912	0.1536:0.7633:0.0:0.0831	.	360;411;411	E9PCD7;Q9Y2E5;Q9Y2E5-2	.;MA2B2_HUMAN;.	C	411;360	ENSP00000285599:R411C;ENSP00000423129:R360C	ENSP00000285599:R411C	R	+	1	0	MAN2B2	6649914	0.907000	0.30839	1.000000	0.80357	0.968000	0.65278	1.407000	0.34657	1.195000	0.43115	0.643000	0.83706	CGC	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359106.2		+	ENST00000285599.3	Missense_Mutation	SNP	4 : 6599013 - 6599013 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	495	95
UNC5C	8633	broad.mit.edu	37	4	96163682	96163682	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96163682G>A	ENST00000506749.1	-	7	1354	c.1006C>T	c.(1006-1008)Cgc>Tgc	p.R336C	UNC5C_ENST00000453304.1_Missense_Mutation_p.R336C			O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	336	TSP type-1 2.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCCCTCCTGCGCCAGTGGGTG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	34	36			NA	NA	4		NA											NA				96163682		2203	4300	6503	SO:0001583	missense			AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168	8633	8633		Immunoglobulin superfamily / I-set domain containing	12569	protein-coding gene	gene with protein product		603610	unc5 (C.elegans homolog) c		NA	9126742, 9782087	Standard	NM_003728	NM_003728	NA	Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000506749.1:c.1006C>T	4.37:g.96163682G>A	ENSP00000426153:p.Arg336Cys	NA	Q8IUT0	37		.	.	.	.	.	.	.	.	.	.	G	22.9	4.345295	0.82022	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749	T;T;T	0.78924	-1.22;-1.22;-1.22	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.93890	0.8045	H	0.99475	4.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	D	0.96276	0.9202	10	0.87932	D	0	.	19.0716	0.93140	0.0:0.0:1.0:0.0	.	336;336;336	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	C	336;295;336;336	ENSP00000406022:R336C;ENSP00000426924:R336C;ENSP00000426153:R336C	ENSP00000328673:R295C	R	-	1	0	UNC5C	96382705	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.750000	0.68712	2.805000	0.96524	0.655000	0.94253	CGC	UNC5C-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000363048.2		-	ENST00000506749.1	Missense_Mutation	SNP	4 : 96163682 - 96163682 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	105	14
ZNF709	163051	broad.mit.edu	37	19	12575729	12575729	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12575729T>C	ENST00000397732.3	-	4	1178	c.1007A>G	c.(1006-1008)tAt>tGt	p.Y336C	ZNF709_ENST00000428311.1_Missense_Mutation_p.Y336C|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTTACAATCATAGGGTTTCTC	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(33;565 669 12371 29134 51667)							NA				0													66	73	71			NA	NA	19		NA											NA				12575729		2194	4298	6492	SO:0001583	missense			AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852	163051	163051		Zinc fingers, C2H2-type, -	20629	protein-coding gene	gene with protein product					NA		Standard	NM_152601	NM_152601	NA	Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1007A>G	19.37:g.12575729T>C	ENSP00000380840:p.Tyr336Cys	NA		37	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	T	13.82	2.349899	0.41599	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.25414	1.8;1.8	2.71	1.68	0.24146	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32314	N	0.006261	T	0.31136	0.0787	M	0.78344	2.41	0.09310	N	1	P	0.36125	0.538	B	0.43194	0.411	T	0.25779	-1.0122	10	0.87932	D	0	.	4.0244	0.09680	0.0:0.1249:0.2126:0.6625	.	336	Q8N972	ZN709_HUMAN	C	336	ENSP00000380840:Y336C;ENSP00000404127:Y336C	ENSP00000404127:Y336C	Y	-	2	0	ZNF709;CTD-2192J16.17	12436729	0.002000	0.14202	0.664000	0.29753	0.994000	0.84299	0.025000	0.13577	0.481000	0.27557	0.383000	0.25322	TAT	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344088.1		-	ENST00000397732.3	Missense_Mutation	SNP	19 : 12575729 - 12575729 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	463	33
RALGAPA2	57186	broad.mit.edu	37	20	20620538	20620538	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20620538A>G	ENST00000202677.7	-	7	564	c.557T>C	c.(556-558)aTa>aCa	p.I186T		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	NA					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TTCTGGATATATCTTTACTGA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								A	THR/ILE	0,3628		0,0,1814	97	90	92		557	5.7	1	20		92	1,8181		0,1,4090	no	missense	RALGAPA2	NM_020343.3	89	0,1,5904	GG,GA,AA	NA	0.0122,0.0,0.0085	possibly-damaging	186/1874	20620538	1,11809	1814	4091	5905	SO:0001583	missense			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559	57186	57186			16207	protein-coding gene	gene with protein product			chromosome 20 open reading frame 74	C20orf74	NA	16490346, 19520869	Standard	NM_020343	NM_020343	NA	Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.557T>C	20.37:g.20620538A>G	ENSP00000202677:p.Ile186Thr	NA	Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	37	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.27|14.27	2.484649|2.484649	0.44147|0.44147	0.0|0.0	1.22E-4|1.22E-4	ENSG00000188559|ENSG00000188559	ENST00000202677;ENST00000424981;ENST00000424490;ENST00000438161|ENST00000430436	T;T;T|.	0.77098|.	-1.07;-1.07;-1.07|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.144833|.	0.64402|.	D|.	0.000006|.	T|T	0.71617|0.71617	0.3361|0.3361	M|M	0.62723|0.62723	1.935|1.935	0.44780|0.44780	D|D	0.99778|0.99778	P|.	0.44627|.	0.839|.	B|.	0.33454|.	0.164|.	T|T	0.70615|0.70615	-0.4823|-0.4823	10|5	0.51188|.	T|.	0.08|.	.|.	15.6105|15.6105	0.76713|0.76713	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	186|.	Q2PPJ7|.	RGPA2_HUMAN|.	T|H	186;38;38;186|3	ENSP00000202677:I186T;ENSP00000400901:I38T;ENSP00000412795:I186T|.	ENSP00000202677:I186T|.	I|Y	-|-	2|1	0|0	RALGAPA2|RALGAPA2	20568538|20568538	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.501000|0.501000	0.33797|0.33797	8.502000|8.502000	0.90505|0.90505	2.170000|2.170000	0.68504|0.68504	0.460000|0.460000	0.39030|0.39030	ATA|TAT	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000471941.1		-	ENST00000202677.7	Missense_Mutation	SNP	20 : 20620538 - 20620538 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	529	99
NLRC4	58484	broad.mit.edu	37	2	32476650	32476650	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32476650C>T	ENST00000404025.2	-	5	771	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.E95K|NLRC4_ENST00000360906.5_Missense_Mutation_p.E95K			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	95					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AAGTCTCCTTCTGATGTCTGA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	56	55			NA	NA	2		NA											NA				32476650		2195	4296	6491	SO:0001583	missense			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106	58484	58484		Nucleotide-binding domain and leucine rich repeat containing	16412	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4, NOD-like receptor C4	606831	caspase recruitment domain family, member 12	CARD12	NA	11374873	Standard	NM_021209	NM_021209	NA	Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.283G>A	2.37:g.32476650C>T	ENSP00000385090:p.Glu95Lys	NA	B2RBQ3|D6W580|Q96J81|Q96J82|Q96J83	37	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.564640	0.45694	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.55052	0.54;0.54;0.54	3.46	2.56	0.30785	.	0.119241	0.33572	N	0.004778	T	0.35624	0.0938	L	0.29908	0.895	0.32029	N	0.599757	P	0.40000	0.698	B	0.32724	0.151	T	0.53337	-0.8453	9	0.66056	D	0.02	-5.2439	11.191	0.48685	0.1858:0.8142:0.0:0.0	.	95	Q9NPP4	NLRC4_HUMAN	K	95	ENSP00000354159:E95K;ENSP00000385428:E95K;ENSP00000385090:E95K	ENSP00000354159:E95K	E	-	1	0	NLRC4	32330154	0.070000	0.21116	0.080000	0.20451	0.123000	0.20343	0.143000	0.16115	0.772000	0.33382	0.543000	0.68304	GAA	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325222.2		-	ENST00000404025.2	Missense_Mutation	SNP	2 : 32476650 - 32476650 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	487	20
CPSF7	79869	broad.mit.edu	37	11	61187476	61187476	+	Silent	SNP	G	G	A	rs138161429	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61187476G>A	ENST00000340437.4	-	5	677	c.597C>T	c.(595-597)gaC>gaT	p.D199D	CPSF7_ENST00000541963.1_3'UTR|CPSF7_ENST00000439958.3_Silent_p.D156D|CPSF7_ENST00000394888.4_Silent_p.D156D|CPSF7_ENST00000448745.1_Silent_p.D156D	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	156					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						CCGGCCTCACGTCCACTTTTT	0.532		NA											G	1	5e-04	NA	NA	2184	NA	0.9999	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.9049	EXOME	NA	NA	4e-04	SNP								NA				0								G	,,	0,4404		0,0,2202	105	109	107		468,468,597	-7	0.8	11	dbSNP_134	107	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	CPSF7	NM_001136040.2,NM_001142565.1,NM_024811.3	,,	0,2,6499	AA,AG,GG	NA	0.0233,0.0,0.0154	,,	156/472,156/463,199/515	61187476	2,13000	2202	4299	6501	SO:0001819	synonymous_variant				CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532	79869	79869		RNA binding motif (RRM) containing	30098	protein-coding gene	gene with protein product	pre mRNA cleavage factor I, 59 kDa subunit, cleavage factor Im complex 59 kDa subunit				NA	12477932	Standard	NM_024811	NM_024811	NA	Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000340437.4:c.597C>T	11.37:g.61187476G>A		NA	B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	37	CCDS8006.2																																																																																			CPSF7-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347830.1		-	ENST00000340437.4	Silent	SNP	11 : 61187476 - 61187476 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	625	120
C9	735	broad.mit.edu	37	5	39341328	39341328	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:39341328A>C	ENST00000263408.4	-	4	491	c.396T>G	c.(394-396)gaT>gaG	p.D132E	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	132	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TTTCACAATCATCCTCATCTG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	122	123			NA	NA	5		NA											NA				39341328		2203	4300	6503	SO:0001583	missense				CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600	735	735		Complement system	1358	protein-coding gene	gene with protein product		120940			NA		Standard		NM_001737	NA	Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.396T>G	5.37:g.39341328A>C	ENSP00000263408:p.Asp132Glu	NA		37	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	A	13.93	2.382830	0.42207	.	.	ENSG00000113600	ENST00000263408	D	0.94966	-3.57	5.52	-2.54	0.06307	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.403256	0.29172	N	0.012922	D	0.85026	0.5603	N	0.04162	-0.26	0.09310	N	1	D	0.53619	0.961	P	0.50970	0.655	T	0.82456	-0.0448	10	0.15952	T	0.53	-22.6294	5.9416	0.19196	0.4123:0.2496:0.3381:0.0	.	132	P02748	CO9_HUMAN	E	132	ENSP00000263408:D132E	ENSP00000263408:D132E	D	-	3	2	C9	39377085	0.028000	0.19301	0.111000	0.21465	0.828000	0.46876	0.049000	0.14099	-0.180000	0.10637	0.460000	0.39030	GAT	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000211576.3		-	ENST00000263408.4	Missense_Mutation	SNP	5 : 39341328 - 39341328 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	620	51
ZNF662	389114	broad.mit.edu	37	3	42956441	42956441	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42956441G>A	ENST00000541208.1	+	5	1245	c.876G>A	c.(874-876)acG>acA	p.T292T	ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000440367.2_Silent_p.T292T|ZNF662_ENST00000328199.6_Silent_p.T318T			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CAAGCCTTACGCAACATCAAC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	1,4405	2.1+/-5.4	0,1,2202	103	91	95		954,876	0.5	1	3		95	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ZNF662	NM_001134656.1,NM_207404.3	,	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	,	318/453,292/427	42956441	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983	389114	389114		Zinc fingers, C2H2-type, -	31930	protein-coding gene	gene with protein product					NA		Standard	NM_207404	NM_207404	NA	Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.876G>A	3.37:g.42956441G>A		NA	Q6ZNF8|Q6ZQW8	37	CCDS2708.1																																																																																			ZNF662-201	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256646.4		+	ENST00000541208.1	Silent	SNP	3 : 42956441 - 42956441 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	327	55
SLC25A4	291	broad.mit.edu	37	4	186067969	186067969	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186067969C>T	ENST00000281456.6	+	4	873	c.741C>T	c.(739-741)gcC>gcT	p.A247A		NM_001151.3	NP_001142.2	P12235	ADT1_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4	NA					energy reserve metabolic process|interspecies interaction between organisms|mitochondrial genome maintenance|negative regulation of necrotic cell death|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane	adenine transmembrane transporter activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)	TTTCCACAGCCGATATTATGT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	80	83			NA	NA	4		NA											NA				186067969		2203	4300	6503	SO:0001630	splice_region_variant			BC008664	CCDS34114.1	4q35	2014-09-17			ENSG00000151729	ENSG00000151729	291	291		Solute carriers	10990	protein-coding gene	gene with protein product		103220		PEO3, PEO2, ANT1	NA	1582253	Standard	NM_001151	NM_001151	NA	Approved	T1	uc003ixd.3	P12235	OTTHUMG00000134299	ENST00000281456.6:c.740-1C>T	4.37:g.186067969C>T		NA	D3DP59	37	CCDS34114.1																																																																																			SLC25A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000259170.3	Silent	+	ENST00000281456.6	Splice_Site	SNP	4 : 186067969 - 186067969 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	245	22
CACNA1E	777	broad.mit.edu	37	1	181620541	181620541	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181620541T>A	ENST00000526775.1	+	7	1184	c.1019T>A	c.(1018-1020)tTc>tAc	p.F340Y	CACNA1E_ENST00000367570.1_Missense_Mutation_p.F340Y|CACNA1E_ENST00000367573.2_Missense_Mutation_p.F340Y|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000360108.3_Missense_Mutation_p.F340Y|CACNA1E_ENST00000357570.5_Missense_Mutation_p.F291Y|CACNA1E_ENST00000358338.5_Missense_Mutation_p.F291Y	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	340					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ATTGGATCCTTCTTTGTTCTC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													198	189	192			NA	NA	1		NA											NA				181620541		1925	4133	6058	SO:0001583	missense			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216	777	777		Calcium channel subunits, Voltage-gated ion channels / Calcium channels, EF-hand domain containing	1392	protein-coding gene	gene with protein product		601013		CACNL1A6	NA	8388125, 16382099	Standard	NM_000721	NM_001205293	NA	Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000526775.1:c.1019T>A	1.37:g.181620541T>A	ENSP00000434814:p.Phe340Tyr	NA	B1AM12|B1AM13|B1AM14|Q14580|Q14581	37	CCDS55665.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.090601	0.76756	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98937	-5.25;-5.25;-5.25;-5.25;-5.25;-5.25;-5.25	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.99118	0.9696	M	0.86420	2.815	0.80722	D	1	D;D	0.61080	0.989;0.989	D;D	0.70487	0.969;0.969	D	0.99418	1.0932	10	0.56958	D	0.05	.	14.8892	0.70594	0.0:0.0:0.0:1.0	.	340;340	Q15878-2;Q15878-3	.;.	Y	340;340;340;291;291;340;340	ENSP00000432038:F340Y;ENSP00000356542:F340Y;ENSP00000434814:F340Y;ENSP00000350183:F291Y;ENSP00000351101:F291Y;ENSP00000353222:F340Y;ENSP00000356545:F340Y	ENSP00000350183:F291Y	F	+	2	0	CACNA1E	179887164	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.517000	0.81783	2.062000	0.61559	0.460000	0.39030	TTC	CACNA1E-002	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090792.2		+	ENST00000526775.1	Missense_Mutation	SNP	1 : 181620541 - 181620541 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	627	94
SLC16A13	201232	broad.mit.edu	37	17	6941494	6941494	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6941494G>A	ENST00000308027.6	+	3	675	c.367G>A	c.(367-369)Gct>Act	p.A123T		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	123						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						TTTGACCTTCGCTCCGACCCT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	81	82			NA	NA	17		NA											NA				6941494		2203	4300	6503	SO:0001583	missense			BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327	201232	201232		Solute carriers	31037	protein-coding gene	gene with protein product	monocarboxylic acid transporter 13		solute carrier family 16 (monocarboxylic acid transporters), member 13		NA		Standard		NM_201566	NA	Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.367G>A	17.37:g.6941494G>A	ENSP00000309751:p.Ala123Thr	NA	A3KMG3|A5PKU5|Q2VP92	37	CCDS11085.1	.	.	.	.	.	.	.	.	.	.	G	6.424	0.446434	0.12223	.	.	ENSG00000174327	ENST00000308027	T	0.57436	0.4	5.39	4.31	0.51392	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.159139	0.56097	N	0.000030	T	0.15176	0.0366	N	0.00864	-1.135	0.27525	N	0.951288	B	0.02656	0.0	B	0.04013	0.001	T	0.32079	-0.9920	10	0.02654	T	1	.	3.697	0.08368	0.7016:0.0:0.1083:0.19	.	123	Q7RTY0	MOT13_HUMAN	T	123	ENSP00000309751:A123T	ENSP00000309751:A123T	A	+	1	0	SLC16A13	6882218	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.698000	0.47068	0.919000	0.36945	0.563000	0.77884	GCT	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219923.2		+	ENST00000308027.6	Missense_Mutation	SNP	17 : 6941494 - 6941494 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	453	84
C3	718	broad.mit.edu	37	19	6694466	6694466	+	Missense_Mutation	SNP	C	C	T	rs146026441	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6694466C>T	ENST00000245907.6	-	24	3222	c.3130G>A	c.(3130-3132)Ggg>Agg	p.G1044R		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1044					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TCCAAGGCCCCCTGCCGCTTC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	76	83			NA	NA	19		NA											NA				6694466		2203	4300	6503	SO:0001583	missense			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	718	718	3.4.21.43	Complement system, Endogenous ligands	1318	protein-coding gene	gene with protein product	C3a anaphylatoxin, complement component C3a, complement component C3b, prepro-C3	120700			NA		Standard	NM_000064	NM_000064	NA	Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.3130G>A	19.37:g.6694466C>T	ENSP00000245907:p.Gly1044Arg	NA	A7E236	37	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	6.937	0.542636	0.13250	.	.	ENSG00000125730	ENST00000245907	T	0.34859	1.34	5.76	1.07	0.20283	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.658785	0.16479	N	0.212637	T	0.12008	0.0292	N	0.02225	-0.63	0.09310	N	1	B	0.32968	0.392	B	0.27887	0.084	T	0.16276	-1.0408	10	0.38643	T	0.18	.	5.8472	0.18673	0.0:0.5259:0.2595:0.2146	.	1044	P01024	CO3_HUMAN	R	1044	ENSP00000245907:G1044R	ENSP00000245907:G1044R	G	-	1	0	C3	6645466	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.841000	0.27613	0.062000	0.16340	0.650000	0.86243	GGG	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317636.2		-	ENST00000245907.6	Missense_Mutation	SNP	19 : 6694466 - 6694466 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	435	69
CLCN7	1186	broad.mit.edu	37	16	1507738	1507738	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1507738G>A	ENST00000382745.4	-	8	1300	c.695C>T	c.(694-696)tCc>tTc	p.S232F	CLCN7_ENST00000448525.1_Missense_Mutation_p.S208F|CLCN7_ENST00000262318.8_Missense_Mutation_p.S208F	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	232						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GATCACACCGGACACTTTGAT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	77	81			NA	NA	16		NA											NA				1507738		2199	4300	6499	SO:0001583	missense			Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249	1186	1186		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Ion channels / Chloride channels : Voltage-sensitive	2025	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 63	602727	chloride channel 7		NA	8543009	Standard	NM_001287	NM_001114331	NA	Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.695C>T	16.37:g.1507738G>A	ENSP00000372193:p.Ser232Phe	NA	A6NEJ7|A8K5T9|Q9NYX5	37	CCDS32361.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.335237	0.24253	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.93811	-3.29;-3.29	5.39	4.41	0.53225	Chloride channel, core (2);	0.290406	0.40064	N	0.001198	T	0.72020	0.3409	N	0.00226	-1.805	0.38954	D	0.958401	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.71234	-0.4653	10	0.24483	T	0.36	-21.299	6.9991	0.24799	0.1016:0.2644:0.634:0.0	.	208;232	E9PDB9;P51798	.;CLCN7_HUMAN	F	208;185;232;174	ENSP00000410907:S208F;ENSP00000372193:S232F	ENSP00000262318:S185F	S	-	2	0	CLCN7	1447739	0.882000	0.30256	0.966000	0.40874	0.836000	0.47400	1.519000	0.35888	2.521000	0.84997	0.561000	0.74099	TCC	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000103598.2		-	ENST00000382745.4	Missense_Mutation	SNP	16 : 1507738 - 1507738 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	489	88
COASY	80347	broad.mit.edu	37	17	40714637	40714637	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40714637C>T	ENST00000590958.1	+	3	209	c.84C>T	c.(82-84)ggC>ggT	p.G28G	COASY_ENST00000449624.1_Intron|COASY_ENST00000421097.2_5'UTR|COASY_ENST00000420359.1_5'UTR|COASY_ENST00000393818.2_5'UTR			Q13057	COASY_HUMAN	CoA synthase	0					coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CAGGCCTGGGCAGCATGGCCG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	30	28			NA	NA	17		NA											NA				40714637		2203	4298	6501	SO:0001819	synonymous_variant			AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	80347	80347	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	Coenzyme A synthase		NA	11923312, 11980892	Standard	NM_025233	NM_025233	NA	Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000590958.1:c.84C>T	17.37:g.40714637C>T		NA	B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	37	CCDS45685.1																																																																																			COASY-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450408.1		+	ENST00000590958.1	Silent	SNP	17 : 40714637 - 40714637 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	343	71
ZAP70	7535	broad.mit.edu	37	2	98354262	98354262	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98354262G>A	ENST00000264972.5	+	12	1740	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K	ZAP70_ENST00000442208.1_Missense_Mutation_p.E383K|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Missense_Mutation_p.E202K	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	509	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GTACGCACCCGAATGCATCAA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	126	123			NA	NA	2		NA											NA				98354262		2203	4300	6503	SO:0001583	missense			L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085	7535	7535		SH2 domain containing	12858	protein-coding gene	gene with protein product		176947	zeta-chain (TCR) associated protein kinase (70 kD)	SRK	NA	1423621	Standard		NM_001079	NA	Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1525G>A	2.37:g.98354262G>A	ENSP00000264972:p.Glu509Lys	NA	A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	37	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	35	5.512702	0.96402	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	D;D;D	0.84370	-1.84;-1.84;-1.84	5.2	5.2	0.72013	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.48767	D	0.000170	D	0.96081	0.8723	H	0.99454	4.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97885	1.0294	10	0.87932	D	0	.	16.6148	0.84904	0.0:0.0:1.0:0.0	.	383;509	P43403-3;P43403	.;ZAP70_HUMAN	K	509;383;202	ENSP00000264972:E509K;ENSP00000411141:E383K;ENSP00000400475:E202K	ENSP00000264972:E509K	E	+	1	0	ZAP70	97720694	1.000000	0.71417	0.986000	0.45419	0.976000	0.68499	7.956000	0.87863	2.610000	0.88304	0.655000	0.94253	GAA	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329278.1		+	ENST00000264972.5	Missense_Mutation	SNP	2 : 98354262 - 98354262 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1277	224
CELSR2	1952	broad.mit.edu	37	1	109793139	109793139	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109793139G>A	ENST00000271332.3	+	1	499	c.438G>A	c.(436-438)caG>caA	p.Q146Q		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	146					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCAGATGCCAGTCCTGCAAGC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(158;1285 2011 34800 34852 42084)							NA				0													42	51	48			NA	NA	1		NA											NA				109793139		2203	4300	6503	SO:0001819	synonymous_variant			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126	1952	1952		Cadherins / Major cadherins, -, GPCR / Class B : Orphans	3231	protein-coding gene	gene with protein product		604265	cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog	EGFL2	NA	9693030, 10907856	Standard	NM_001408	NM_001408	NA	Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.438G>A	1.37:g.109793139G>A		NA	Q5T2Y7|Q92566	37	CCDS796.1																																																																																			CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033200.1		+	ENST00000271332.3	Silent	SNP	1 : 109793139 - 109793139 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	341	41
DARS	1615	broad.mit.edu	37	2	136673868	136673868	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136673868C>T	ENST00000264161.4	-	11	1249	c.1034G>A	c.(1033-1035)aGa>aAa	p.R345K	DARS_ENST00000537273.1_Missense_Mutation_p.R245K	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	345					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	ATATTCTAGTCTTAGAGTTGG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	131	131			NA	NA	2		NA											NA				136673868		2203	4300	6503	SO:0001583	missense			J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	1615	1615	6.1.1.12	Aminoacyl tRNA synthetases / Class II	2678	protein-coding gene	gene with protein product	aspartate tRNA ligase 1, cytoplasmic	603084			NA	2674137	Standard	NM_001349	NM_001349	NA	Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.1034G>A	2.37:g.136673868C>T	ENSP00000264161:p.Arg345Lys	NA	A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q9BW52	37	CCDS2180.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478771	0.44044	.	.	ENSG00000115866	ENST00000264161;ENST00000422708;ENST00000537273	D;D;D	0.86865	-1.51;-2.18;-1.51	5.43	5.43	0.79202	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.84692	0.5528	L	0.49350	1.555	0.80722	D	1	B	0.10296	0.003	B	0.12837	0.008	T	0.78919	-0.2014	10	0.21014	T	0.42	-16.9407	19.6188	0.95647	0.0:1.0:0.0:0.0	.	345	P14868	SYDC_HUMAN	K	345;59;245	ENSP00000264161:R345K;ENSP00000387508:R59K;ENSP00000444192:R245K	ENSP00000264161:R345K	R	-	2	0	DARS	136390338	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.746000	0.68681	2.699000	0.92147	0.650000	0.86243	AGA	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254660.5		-	ENST00000264161.4	Missense_Mutation	SNP	2 : 136673868 - 136673868 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	587	50
ALDH3B2	222	broad.mit.edu	37	11	67433656	67433656	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67433656G>T	ENST00000349015.3	-	6	694	c.256C>A	c.(256-258)Ctg>Atg	p.L86M	ALDH3B2_ENST00000530069.1_Missense_Mutation_p.L86M	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	86					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	GGTCCGCCCAGCACCACGGCA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	84	83			NA	NA	11		NA											NA				67433656		2200	4294	6494	SO:0001583	missense			U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	222	222	1.2.1.5	Aldehyde dehydrogenases	411	protein-coding gene	gene with protein product	aldehyde dehydrogenase 8, acetaldehyde dehydrogenase 8	601917		ALDH8	NA	8890755, 9161417	Standard	NM_000695	NM_000695	NA	Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.256C>A	11.37:g.67433656G>T	ENSP00000255084:p.Leu86Met	NA	Q53Y98|Q8NAL5|Q96IB2	37	CCDS31622.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541846	0.45280	.	.	ENSG00000132746	ENST00000530069;ENST00000349015;ENST00000525827;ENST00000528756	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	3.19	2.24	0.28232	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.980889	0.08310	N	0.965484	T	0.80226	0.4584	L	0.53561	1.675	0.23107	N	0.998288	P	0.48834	0.916	P	0.57620	0.824	T	0.65475	-0.6159	10	0.54805	T	0.06	.	3.3714	0.07222	0.226:0.0:0.5203:0.2536	.	86	P48448	AL3B2_HUMAN	M	86	ENSP00000431595:L86M;ENSP00000255084:L86M;ENSP00000433718:L86M;ENSP00000433466:L86M	ENSP00000255084:L86M	L	-	1	2	ALDH3B2	67190232	0.001000	0.12720	0.911000	0.35937	0.899000	0.52679	0.590000	0.23954	0.872000	0.35775	0.563000	0.77884	CTG	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394004.1		-	ENST00000349015.3	Missense_Mutation	SNP	11 : 67433656 - 67433656 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	610	92
TTN	7273	broad.mit.edu	37	2	179411070	179411070	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179411070G>T	ENST00000589042.1	-	342	95212	c.94988C>A	c.(94987-94989)tCt>tAt	p.S31663Y	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S29095Y|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S30022Y|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S22790Y|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S22723Y|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S22598Y|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30022	Fibronectin type-III 130.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATACTGCAAAGAGACTTTTTC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	155	156			NA	NA	2		NA											NA				179411070		1935	4135	6070	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.94988C>A	2.37:g.179411070G>T	ENSP00000467141:p.Ser31663Tyr	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.424982	0.62733	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.66	5.66	0.87406	Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82646	0.5082	M	0.75447	2.3	0.46521	D	0.999088	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.77004	0.979;0.979;0.979;0.989	D	0.83925	0.0303	9	0.87932	D	0	.	19.7578	0.96301	0.0:0.0:1.0:0.0	.	22598;22723;22790;30022	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	29095;22598;22790;22723;22595	ENSP00000343764:S29095Y;ENSP00000434586:S22598Y;ENSP00000340554:S22790Y;ENSP00000352154:S22723Y	ENSP00000340554:S22790Y	S	-	2	0	TTN	179119316	1.000000	0.71417	0.985000	0.45067	0.995000	0.86356	6.545000	0.73883	2.657000	0.90304	0.655000	0.94253	TCT	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179411070 - 179411070 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	783	195
NOTCH1	4851	broad.mit.edu	37	9	139395286	139395286	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139395286C>T	ENST00000277541.6	-	31	5727	c.5652G>A	c.(5650-5652)ccG>ccA	p.P1884P		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1884					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGATCATGAGCGGGGTGAAGC	0.692		NA	T, Mis, O	TRB@	T-ALL					HNSCC(8;0.001)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		9	9q34.3	4851	Notch homolog 1, translocation-associated (Drosophila) (TAN1)		L	0													12	15	14			NA	NA	9		NA											NA				139395286		1987	4152	6139	SO:0001819	synonymous_variant			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400	4851	4851		Ankyrin repeat domain containing	7881	protein-coding gene	gene with protein product		190198	Notch (Drosophila) homolog 1 (translocation-associated), Notch homolog 1, translocation-associated (Drosophila)	TAN1	NA	1831692	Standard	NM_017617	NM_017617	NA	Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5652G>A	9.37:g.139395286C>T		NA	Q59ED8|Q5SXM3	37	CCDS43905.1																																																																																			NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055087.1		-	ENST00000277541.6	Silent	SNP	9 : 139395286 - 139395286 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	180	25
BRINP1	1620	broad.mit.edu	37	9	121930116	121930116	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:121930116C>T	ENST00000265922.3	-	8	1993	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2			bone morphogenetic protein/retinoic acid inducible neural-specific 1	511											NA						GGTGTCGAGGCGGATCTCGTT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													248	176	201			NA	NA	9		NA											NA				121930116		2203	4300	6503	SO:0001583	missense			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725	1620	1620			2687	protein-coding gene	gene with protein product		602865	deleted in bladder cancer chromosome region candidate 1, deleted in bladder cancer 1	DBCCR1, DBC1	NA	9175739, 10444335, 15193422	Standard	NM_014618	NM_014618	NA	Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1532G>A	9.37:g.121930116C>T	ENSP00000265922:p.Arg511His	NA		37	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.637290	0.87760	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.20881	2.04	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.46405	0.1391	M	0.61703	1.905	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	T	0.33675	-0.9859	10	0.72032	D	0.01	-21.531	19.91	0.97023	0.0:1.0:0.0:0.0	.	511	O60477	DBC1_HUMAN	H	511	ENSP00000265922:R511H	ENSP00000265922:R511H	R	-	2	0	DBC1	120969937	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.019000	0.70818	2.702000	0.92279	0.655000	0.94253	CGC	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055440.2		-	ENST00000265922.3	Missense_Mutation	SNP	9 : 121930116 - 121930116 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	353	15
STARD5	80765	broad.mit.edu	37	15	81614779	81614779	+	Silent	SNP	G	G	A	rs142670896		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81614779G>A	ENST00000302824.6	-	3	277	c.252C>T	c.(250-252)acC>acT	p.T84T	STARD5_ENST00000559913.1_5'UTR	NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer (START) domain containing 5	84	START.				C21-steroid hormone biosynthetic process|lipid transport	cytosol	lipid binding			large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						TTTCAAAACCGGTCACATTCT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		3,4403	6.2+/-15.9	0,3,2200	160	133	142		252	4.5	0	15	dbSNP_134	142	0,8600		0,0,4300	no	coding-synonymous	STARD5	NM_181900.2		0,3,6500	AA,AG,GG	NA	0.0,0.0681,0.0231		84/214	81614779	3,13003	2203	4300	6503	SO:0001819	synonymous_variant			AF480304	CCDS10318.1	15q26	2011-09-12	2007-08-16		ENSG00000172345	ENSG00000172345	80765	80765		StAR-related lipid transfer (START) domain containing	18065	protein-coding gene	gene with protein product		607050	START domain containing 5		NA	12011452	Standard		NM_181900	NA	Approved	MGC10327	uc002bgm.3	Q9NSY2	OTTHUMG00000147342	ENST00000302824.6:c.252C>T	15.37:g.81614779G>A		NA	P59094	37	CCDS10318.1																																																																																			STARD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000303950.2		-	ENST00000302824.6	Silent	SNP	15 : 81614779 - 81614779 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	479	39
ESF1	51575	broad.mit.edu	37	20	13695780	13695780	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13695780T>G	ENST00000202816.1	-	14	2404	c.2297A>C	c.(2296-2298)tAc>tCc	p.Y766S		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	766	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						GTGGGAAGTGTACATTGCCTG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	99	98			NA	NA	20		NA											NA				13695780		2203	4300	6503	SO:0001583	missense				CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048	51575	51575			15898	protein-coding gene	gene with protein product			chromosome 20 open reading frame 6	C20orf6	NA		Standard	NM_016649	NM_016649	NA	Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.2297A>C	20.37:g.13695780T>G	ENSP00000202816:p.Tyr766Ser	NA	Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	37	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	T	18.78	3.696584	0.68386	.	.	ENSG00000089048	ENST00000202816	T	0.27557	1.66	6.05	6.05	0.98169	NUC153 (1);	0.074024	0.56097	D	0.000028	T	0.57460	0.2055	M	0.82823	2.61	0.44736	D	0.99773	D	0.76494	0.999	D	0.75020	0.985	T	0.63129	-0.6706	10	0.72032	D	0.01	0.2465	12.2619	0.54655	0.1341:0.0:0.0:0.8659	.	766	Q9H501	ESF1_HUMAN	S	766	ENSP00000202816:Y766S	ENSP00000202816:Y766S	Y	-	2	0	ESF1	13643780	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.297000	0.65704	2.320000	0.78422	0.528000	0.53228	TAC	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078049.1		-	ENST00000202816.1	Missense_Mutation	SNP	20 : 13695780 - 13695780 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	524	104
GCNT2	2651	broad.mit.edu	37	6	10529724	10529724	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10529724G>T	ENST00000379597.3	+	1	1136	c.580G>T	c.(580-582)Gac>Tac	p.D194Y	GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Missense_Mutation_p.D194Y|GCNT2_ENST00000410107.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	194						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CTGCGGGCAAGACTTTCCCCT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	48	47			NA	NA	6		NA											NA				10529724		2203	4300	6503	SO:0001583	missense			L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2651	2651	2.4.1.150	Blood group antigens, Glucosaminyl (N-acetyl) transferase and xylosyltransferase family	4204	protein-coding gene	gene with protein product	Ii blood group, unassigned linkage group 3	600429	glucosaminyl (N-acetyl) transferase 5, glucosaminyl (N-acetyl) transferase 2, I-branching enzyme, glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group), cataract, congenital	NACGT1, II, GCNT5, CCAT	NA	8449405, 9915862	Standard	NM_145649	NM_145649	NA	Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.580G>T	6.37:g.10529724G>T	ENSP00000368917:p.Asp194Tyr	NA		37	CCDS34338.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167435	0.78339	.	.	ENSG00000111846	ENST00000495262;ENST00000379597	T;T	0.23552	1.9;1.9	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.61085	0.2319	H	0.95365	3.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73714	-0.3896	10	0.87932	D	0	-15.1425	19.2323	0.93845	0.0:0.0:1.0:0.0	.	194;193	Q8N0V5;Q08M29	GNT2A_HUMAN;.	Y	194	ENSP00000419411:D194Y;ENSP00000368917:D194Y	ENSP00000368917:D194Y	D	+	1	0	GCNT2	10637710	1.000000	0.71417	0.979000	0.43373	0.542000	0.35054	9.640000	0.98453	2.636000	0.89361	0.655000	0.94253	GAC	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327912.3		+	ENST00000379597.3	Missense_Mutation	SNP	6 : 10529724 - 10529724 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	30
ATP1A3	478	broad.mit.edu	37	19	42482344	42482344	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42482344C>T	ENST00000545399.1	-	13	1957	c.1804G>A	c.(1804-1806)Gtc>Atc	p.V602I	ATP1A3_ENST00000543770.1_Missense_Mutation_p.V600I|ATP1A3_ENST00000302102.5_Missense_Mutation_p.V589I|ATP1A3_ENST00000602133.1_Missense_Mutation_p.V559I	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	589					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GCGTCAGGGACGGCTGCCCGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	59	60			NA	NA	19		NA											NA				42482344		2203	4300	6503	SO:0001583	missense				CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	478	478	3.6.3.9	ATPases / P-type	801	protein-coding gene	gene with protein product	sodium/potassium-transporting ATPase subunit alpha-3, sodium pump subunit alpha-3, sodium-potassium ATPase catalytic subunit alpha-3	182350	dystonia 12	DYT12	NA	17282997	Standard	NM_152296	NM_152296	NA	Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000545399.1:c.1804G>A	19.37:g.42482344C>T	ENSP00000444688:p.Val602Ile	NA	Q16732|Q16735|Q969K5	37	CCDS58664.1	.	.	.	.	.	.	.	.	.	.	C	32	5.167298	0.94768	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	T;D;T;T	0.96168	-1.36;-3.93;-1.36;-1.36	4.44	4.44	0.53790	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97561	0.9201	M	0.83692	2.655	0.80722	D	1	D;D;D;D	0.89917	1.0;0.991;0.997;0.987	D;P;P;P	0.76575	0.988;0.582;0.829;0.706	D	0.98091	1.0409	10	0.87932	D	0	.	14.9849	0.71339	0.0:1.0:0.0:0.0	.	602;600;589;589	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	I	589;589;602;559;333;600	ENSP00000302397:V589I;ENSP00000411503:V589I;ENSP00000444688:V602I;ENSP00000437577:V600I	ENSP00000302397:V589I	V	-	1	0	ATP1A3	47174184	1.000000	0.71417	0.994000	0.49952	0.982000	0.71751	7.554000	0.82212	2.478000	0.83669	0.561000	0.74099	GTC	ATP1A3-008	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268114.2		-	ENST00000545399.1	Missense_Mutation	SNP	19 : 42482344 - 42482344 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	305	52
CHD7	55636	broad.mit.edu	37	8	61734637	61734637	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61734637A>C	ENST00000423902.2	+	11	3369	c.2890A>C	c.(2890-2892)Aac>Cac	p.N964H	CHD7_ENST00000525508.1_Missense_Mutation_p.N964H|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	964					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGAGTATAAAAACAATAACAA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	66	67			NA	NA	8		NA											NA				61734637		1828	4080	5908	SO:0001583	missense			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316	55636	55636			20626	protein-coding gene	gene with protein product		608892	CHARGE association	CRG	NA	15300250, 18834967	Standard	XM_098762	NM_017780	NA	Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.2890A>C	8.37:g.61734637A>C	ENSP00000392028:p.Asn964His	NA	Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.671091	0.88348	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	D;D	0.93366	-3.21;-3.21	5.52	5.52	0.82312	DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	D	0.94729	0.8299	M	0.70595	2.14	0.80722	D	1	P;B	0.40050	0.7;0.103	P;B	0.48627	0.584;0.094	D	0.95226	0.8338	10	0.87932	D	0	-24.6046	15.9347	0.79694	1.0:0.0:0.0:0.0	.	964;964	Q9P2D1-2;Q9P2D1	.;CHD7_HUMAN	H	964	ENSP00000392028:N964H;ENSP00000436027:N964H	ENSP00000307304:N964H	N	+	1	0	CHD7	61897191	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.221000	0.72209	0.528000	0.53228	AAC	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383468.2		+	ENST00000423902.2	Missense_Mutation	SNP	8 : 61734637 - 61734637 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	246	23
SUPT6H	6830	broad.mit.edu	37	17	27010748	27010748	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27010748C>T	ENST00000314616.6	+	17	2426	c.2143C>T	c.(2143-2145)Cgg>Tgg	p.R715W	SUPT6H_ENST00000347486.4_Missense_Mutation_p.R715W	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	715					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	p.R715W(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GGCCATCGAACGGGCTTTACA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											74	73	74			NA	NA	17		NA											NA				27010748		2203	4300	6503	SO:0001583	missense			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111	6830	6830		SH2 domain containing	11470	protein-coding gene	gene with protein product		601333	suppressor of Ty (S.cerevisiae) 6 homolog		NA	8786132	Standard	NM_003170	XM_005258026	NA	Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.2143C>T	17.37:g.27010748C>T	ENSP00000319104:p.Arg715Trp	NA	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	37	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998760	0.74818	.	.	ENSG00000109111	ENST00000314616	T	0.40756	1.02	5.39	5.39	0.77823	Tex-like domain (1);	0.060685	0.64402	D	0.000003	T	0.57740	0.2074	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	P	0.58391	0.838	T	0.53585	-0.8418	10	0.36615	T	0.2	-1.2919	19.2162	0.93780	0.0:1.0:0.0:0.0	.	715	Q7KZ85	SPT6H_HUMAN	W	715	ENSP00000319104:R715W	ENSP00000319104:R715W	R	+	1	2	SUPT6H	24034875	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.930000	0.48924	2.557000	0.86248	0.650000	0.86243	CGG	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000446422.2		+	ENST00000314616.6	Missense_Mutation	SNP	17 : 27010748 - 27010748 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	312	54
CDON	50937	broad.mit.edu	37	11	125853983	125853983	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125853983G>A	ENST00000392693.3	-	16	2906	c.2779C>T	c.(2779-2781)Cgt>Tgt	p.R927C	CDON_ENST00000531738.1_Missense_Mutation_p.R304C|CDON_ENST00000263577.7_Missense_Mutation_p.R927C	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	927					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CCAGGAACACGTTTCACTAGT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	39	38			NA	NA	11		NA											NA				125853983		2201	4299	6500	SO:0001583	missense			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309	50937	50937		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	17104	protein-coding gene	gene with protein product	cell adhesion molecule-related/down-regulated by oncogenes	608707	Cdon homolog (mouse)		NA	9214393	Standard	NM_016952	NM_016952	NA	Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.2779C>T	11.37:g.125853983G>A	ENSP00000376458:p.Arg927Cys	NA	O14631	37	CCDS58192.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948655	0.73787	.	.	ENSG00000064309	ENST00000392693;ENST00000531738;ENST00000263577	T;T;T	0.70282	-0.46;0.22;-0.47	5.89	5.89	0.94794	.	0.000000	0.49916	D	0.000125	D	0.83078	0.5176	M	0.70595	2.14	0.53005	D	0.999966	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.991;0.996;0.943	D	0.84068	0.0378	10	0.72032	D	0.01	-22.7941	15.0262	0.71671	0.0:0.0:0.8578:0.1422	.	927;927;304	Q4KMG0;Q4KMG0-2;E9PN78	CDON_HUMAN;.;.	C	927;304;927	ENSP00000376458:R927C;ENSP00000432901:R304C;ENSP00000263577:R927C	ENSP00000263577:R927C	R	-	1	0	CDON	125359193	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.800000	0.55537	2.783000	0.95769	0.655000	0.94253	CGT	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386749.2		-	ENST00000392693.3	Missense_Mutation	SNP	11 : 125853983 - 125853983 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	212	37
ATP8A2	51761	broad.mit.edu	37	13	26535801	26535801	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:26535801C>T	ENST00000381655.2	+	34	3414	c.3272C>T	c.(3271-3273)gCa>gTa	p.A1091V	ATP8A2_ENST00000255283.8_Splice_Site_p.A1026V	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	1051					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GCATGGAGAGCGTAAGTTTAA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	VAL/ALA	0,3852		0,0,1926	175	158	163		3272	5.5	1	13		163	1,8285		0,1,4142	yes	missense-near-splice	ATP8A2	NM_016529.4	64	0,1,6068	TT,TC,CC	NA	0.0121,0.0,0.0082	benign	1091/1189	26535801	1,12137	1926	4143	6069	SO:0001630	splice_region_variant			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	51761	51761	3.6.3.1	ATPases / P-type	13533	protein-coding gene	gene with protein product		605870	ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2, ATPase, aminophospholipid transporter-like, class I, type 8A, member 2		NA	11015572, 19778899	Standard	NM_016529	NM_016529	NA	Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.3272+1C>T	13.37:g.26535801C>T		NA	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	37	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125480	0.37533	0.0	1.21E-4	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.41065	1.01;1.01	5.48	5.48	0.80851	.	0.134429	0.48286	D	0.000192	T	0.28962	0.0719	N	0.16862	0.45	0.40851	D	0.98375	B;B	0.19935	0.014;0.04	B;B	0.11329	0.006;0.006	T	0.08432	-1.0722	10	0.18276	T	0.48	.	17.4784	0.87667	0.0:1.0:0.0:0.0	.	1026;1051	B7Z880;Q9NTI2	.;AT8A2_HUMAN	V	1091;1026;871	ENSP00000371070:A1091V;ENSP00000255283:A1026V	ENSP00000255283:A1026V	A	+	2	0	ATP8A2	25433801	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	3.937000	0.56575	2.722000	0.93159	0.650000	0.86243	GCA	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044236.2	Missense_Mutation	+	ENST00000381655.2	Splice_Site	SNP	13 : 26535801 - 26535801 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	468	74
EIF5B	9669	broad.mit.edu	37	2	100011029	100011029	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100011029A>G	ENST00000289371.6	+	20	3272	c.3070A>G	c.(3070-3072)Atg>Gtg	p.M1024V		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	NA					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGCTTCAGTGATGTTGGAACA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(162;2388 2567 2705 3444)							NA				0													201	188	192			NA	NA	2		NA											NA				100011029		1889	4107	5996	SO:0001583	missense			AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417	9669	9669			30793	protein-coding gene	gene with protein product	translation initiation factor IF2	606086			NA	10200264, 10432305	Standard	NM_015904	XM_005264075	NA	Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.3070A>G	2.37:g.100011029A>G	ENSP00000289371:p.Met1024Val	NA	O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	37	CCDS42721.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.247902	0.80024	.	.	ENSG00000158417	ENST00000289371	T	0.40476	1.03	5.68	5.68	0.88126	Translation initiation factor IF- 2, domain 3 (3);	.	.	.	.	T	0.59473	0.2196	L	0.58302	1.8	0.80722	D	1	D	0.61080	0.989	D	0.65684	0.937	T	0.57866	-0.7737	8	.	.	.	-26.622	15.9398	0.79745	1.0:0.0:0.0:0.0	.	1024	O60841	IF2P_HUMAN	V	1024	ENSP00000289371:M1024V	.	M	+	1	0	EIF5B	99377461	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.099000	0.94207	2.152000	0.67230	0.523000	0.50628	ATG	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330364.2		+	ENST00000289371.6	Missense_Mutation	SNP	2 : 100011029 - 100011029 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1279	322
LCMT1	51451	broad.mit.edu	37	16	25143812	25143812	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25143812G>A	ENST00000399069.3	+	3	450	c.295G>A	c.(295-297)Gca>Aca	p.A99T	LCMT1_ENST00000380966.4_Missense_Mutation_p.A99T	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	99							protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity				NA				GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	CAACCTTGGGGCAGGCATGGA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(200;565 2072 24396 47922 50898)							NA				0													108	106	107			NA	NA	16		NA											NA				25143812		1933	4130	6063	SO:0001583	missense			AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629	51451	51451			17557	protein-coding gene	gene with protein product	protein phosphatase methyltransferase 1	610286			NA	10810093	Standard	NM_016309	XM_005255354	NA	Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.295G>A	16.37:g.25143812G>A	ENSP00000382021:p.Ala99Thr	NA	A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	37	CCDS45445.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407039	0.42715	.	.	ENSG00000205629	ENST00000399069;ENST00000380966;ENST00000380962	T;T	0.30448	1.53;1.53	5.51	4.54	0.55810	.	0.121669	0.56097	D	0.000037	T	0.67126	0.2860	H	0.96175	3.78	0.54753	D	0.999981	D;D	0.89917	0.998;1.0	D;D	0.81914	0.982;0.995	T	0.78339	-0.2242	10	0.87932	D	0	-16.1964	13.5204	0.61563	0.0:0.0:0.8429:0.1571	.	99;99	Q9UIC8-3;Q9UIC8	.;LCMT1_HUMAN	T	99;99;116	ENSP00000382021:A99T;ENSP00000370353:A99T	ENSP00000370349:A116T	A	+	1	0	LCMT1	25051313	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.941000	0.75922	1.312000	0.45043	0.655000	0.94253	GCA	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000435747.4		+	ENST00000399069.3	Missense_Mutation	SNP	16 : 25143812 - 25143812 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	178	33
CCDC40	55036	broad.mit.edu	37	17	78032413	78032413	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78032413C>T	ENST00000397545.4	+	8	1307	c.1280C>T	c.(1279-1281)aCg>aTg	p.T427M	CCDC40_ENST00000374876.4_Missense_Mutation_p.T427M|CCDC40_ENST00000269318.5_Missense_Mutation_p.T427M|CCDC40_ENST00000374877.3_Missense_Mutation_p.T427M	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	427					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AAGGCCGAGACGGAGAGGATC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	MET/THR	0,4146		0,0,2073	63	68	66		1280	-7.3	0	17		66	2,8406		0,2,4202	no	missense	CCDC40	NM_017950.3	81	0,2,6275	TT,TC,CC	NA	0.0238,0.0,0.0159	benign	427/1143	78032413	2,12552	2073	4204	6277	SO:0001583	missense			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519	55036	55036			26090	protein-coding gene	gene with protein product		613799			NA	21131974	Standard	XM_371082	NM_017950	NA	Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1280C>T	17.37:g.78032413C>T	ENSP00000380679:p.Thr427Met	NA	A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	37	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	C	2.861	-0.236089	0.05944	0.0	2.38E-4	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	T;T;T;T	0.48201	0.85;1.95;0.82;0.85	4.97	-7.27	0.01461	.	.	.	.	.	T	0.24812	0.0602	N	0.12182	0.205	0.09310	N	1	B;B;B	0.30584	0.109;0.089;0.286	B;B;B	0.18263	0.016;0.006;0.021	T	0.05257	-1.0896	9	0.31617	T	0.26	-6.0308	16.0752	0.80965	0.0:0.3129:0.0:0.6871	.	427;427;210	Q4G0X9-5;Q4G0X9;Q4G0X9-3	.;CCD40_HUMAN;.	M	427	ENSP00000364011:T427M;ENSP00000269318:T427M;ENSP00000364010:T427M;ENSP00000380679:T427M	ENSP00000269318:T427M	T	+	2	0	CCDC40	75647008	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-1.337000	0.02657	-1.470000	0.01888	-0.253000	0.11424	ACG	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256005.2		+	ENST00000397545.4	Missense_Mutation	SNP	17 : 78032413 - 78032413 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	248	47
OR51V1	283111	broad.mit.edu	37	11	5221811	5221811	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5221811G>T	ENST00000321255.1	-	1	119	c.120C>A	c.(118-120)ttC>ttA	p.F40L		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATTGAGGAGAAGGGGATGG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	112	115			NA	NA	11		NA											NA				5221811		2201	4298	6499	SO:0001583	missense			BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742	283111	283111		GPCR / Class A : Olfactory receptors	19597	protein-coding gene	gene with protein product				OR51A12	NA		Standard	NM_001004760	NM_001004760	NA	Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.120C>A	11.37:g.5221811G>T	ENSP00000321729:p.Phe40Leu	NA		37	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	G	8.072	0.770548	0.15983	.	.	ENSG00000176742	ENST00000321255	T	0.00566	6.55	5.16	1.21	0.21127	.	0.169863	0.28187	U	0.016269	T	0.00468	0.0015	L	0.52573	1.65	0.23972	N	0.996304	B	0.16802	0.019	B	0.20384	0.029	T	0.46428	-0.9192	10	0.19147	T	0.46	.	4.9654	0.14087	0.4101:0.1459:0.4439:0.0	.	40	Q9H2C8	O51V1_HUMAN	L	40	ENSP00000321729:F40L	ENSP00000321729:F40L	F	-	3	2	OR51V1	5178387	0.001000	0.12720	0.597000	0.28824	0.389000	0.30415	-0.311000	0.08124	0.068000	0.16574	0.650000	0.86243	TTC	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000142965.1		-	ENST00000321255.1	Missense_Mutation	SNP	11 : 5221811 - 5221811 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	472	89
PPP1R3A	5506	broad.mit.edu	37	7	113519685	113519685	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:113519685C>A	ENST00000284601.3	-	4	1530	c.1462G>T	c.(1462-1464)Gat>Tat	p.D488Y		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	488					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GAATGGAAATCTCTTCGTAAA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	60	61			NA	NA	7		NA											NA				113519685		2203	4299	6502	SO:0001583	missense			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	5506	5506	3.1.3.16	Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	9291	protein-coding gene	gene with protein product	glycogen-associated regulatory subunit of protein phosphatase-1, protein phosphatase 1 regulatory subunit GM	600917	protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle), protein phosphatase 1, regulatory (inhibitor) subunit 3A	PPP1R3	NA	7926294	Standard	NM_002711	NM_002711	NA	Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1462G>T	7.37:g.113519685C>A	ENSP00000284601:p.Asp488Tyr	NA	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	37	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.477870	0.26511	.	.	ENSG00000154415	ENST00000284601;ENST00000449795	T;T	0.48836	1.96;0.8	5.24	4.33	0.51752	.	0.721310	0.12943	N	0.426442	T	0.65439	0.2691	M	0.71581	2.175	0.09310	N	1	D	0.89917	1.0	D	0.68192	0.956	T	0.55283	-0.8165	10	0.87932	D	0	-2.0215	10.4417	0.44469	0.0:0.9061:0.0:0.0939	.	488	Q16821	PPR3A_HUMAN	Y	488;167	ENSP00000284601:D488Y;ENSP00000401278:D167Y	ENSP00000284601:D488Y	D	-	1	0	PPP1R3A	113306921	0.014000	0.17966	0.154000	0.22540	0.016000	0.09150	1.226000	0.32563	1.144000	0.42321	0.561000	0.74099	GAT	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346724.1		-	ENST00000284601.3	Missense_Mutation	SNP	7 : 113519685 - 113519685 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	288	44
MKI67	4288	broad.mit.edu	37	10	129901952	129901952	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129901952C>T	ENST00000368654.3	-	13	8527	c.8152G>A	c.(8152-8154)Gca>Aca	p.A2718T	MKI67_ENST00000368653.3_Missense_Mutation_p.A2358T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2718	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTGTGCTTGCTGTGGTGTCT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	115	117			NA	NA	10		NA											NA				129901952		2203	4300	6503	SO:0001583	missense			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773	4288	4288			7107	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 105	176741	antigen identified by monoclonal antibody Ki-67		NA	2571566, 16206250	Standard	NM_002417	NM_002417	NA	Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.8152G>A	10.37:g.129901952C>T	ENSP00000357643:p.Ala2718Thr	NA	Q5VWH2	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	0.075	-1.194393	0.01594	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02085	4.46;4.46	3.48	-2.61	0.06171	.	.	.	.	.	T	0.00666	0.0022	N	0.00317	-1.655	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.11329	0.001;0.003;0.006	T	0.48468	-0.9033	9	0.10377	T	0.69	.	8.1379	0.31064	0.0:0.4302:0.0:0.5698	.	2717;2358;2718	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	T	2718;2358;2717	ENSP00000357643:A2718T;ENSP00000357642:A2358T	ENSP00000357642:A2358T	A	-	1	0	MKI67	129791942	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.647000	0.00860	-0.473000	0.06871	-0.794000	0.03295	GCA	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050999.1		-	ENST00000368654.3	Missense_Mutation	SNP	10 : 129901952 - 129901952 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	515	104
KLHL36	79786	broad.mit.edu	37	16	84690700	84690700	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84690700G>A	ENST00000564996.1	+	3	428	c.287G>A	c.(286-288)gGg>gAg	p.G96E	KLHL36_ENST00000258157.5_Missense_Mutation_p.G96E	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	96	BTB.									endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TCCTACATTGGGCTCAAGGCC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	73	76			NA	NA	16		NA											NA				84690700		2199	4300	6499	SO:0001583	missense			AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686	79786	79786		Kelch-like, BTB/POZ domain containing	17844	protein-coding gene	gene with protein product			chromosome 16 open reading frame 44, kelch-like 36 (Drosophila)	C16orf44	NA		Standard		NM_024731	NA	Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.287G>A	16.37:g.84690700G>A	ENSP00000456743:p.Gly96Glu	NA	Q8N5G6|Q9H9U6	37	CCDS10948.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922463	0.52653	.	.	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.65732	-0.17	5.7	4.73	0.59995	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.046923	0.85682	D	0.000000	T	0.76877	0.4049	M	0.62266	1.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79671	-0.1706	10	0.72032	D	0.01	.	15.805	0.78491	0.0:0.1363:0.8637:0.0	.	96;96	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	E	96	ENSP00000258157:G96E	ENSP00000258157:G96E	G	+	2	0	KLHL36	83248201	1.000000	0.71417	0.965000	0.40720	0.202000	0.24057	9.664000	0.98607	1.380000	0.46344	-0.176000	0.13171	GGG	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269084.2		+	ENST00000564996.1	Missense_Mutation	SNP	16 : 84690700 - 84690700 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	94
FBXW11	23291	broad.mit.edu	37	5	171327098	171327098	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171327098C>T	ENST00000296933.6	-	4	711	c.341G>A	c.(340-342)gGc>gAc	p.G114D	FBXW11_ENST00000265094.5_Missense_Mutation_p.G127D|FBXW11_ENST00000425623.2_Missense_Mutation_p.G95D|FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000393802.2_Missense_Mutation_p.G93D	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	127	Homodimerization domain D (By similarity).				cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTGATCTAAGCCTTGCTCTAC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	98	98			NA	NA	5		NA											NA				171327098		2203	4300	6503	SO:0001583	missense			AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803	23291	23291		F-boxes / WD-40 domains, WD repeat domain containing	13607	protein-coding gene	gene with protein product		605651	F-box and WD-40 domain protein 1B, F-box and WD-40 domain protein 11	FBXW1B	NA	10531035, 10694485	Standard	NM_012300	NM_033644	NA	Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000296933.6:c.341G>A	5.37:g.171327098C>T	ENSP00000296933:p.Gly114Asp	NA	B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	37	CCDS47341.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645290	0.87859	.	.	ENSG00000072803	ENST00000296933;ENST00000265094;ENST00000393802;ENST00000425623;ENST00000517395	T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97	4.48	4.48	0.54585	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.52597	0.1744	M	0.87547	2.89	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76575	0.964;0.973;0.974;0.988	T	0.63180	-0.6695	10	0.66056	D	0.02	-11.0944	17.1401	0.86750	0.0:1.0:0.0:0.0	.	95;93;127;114	B4DH70;Q9UKB1-2;Q9UKB1;Q9UKB1-3	.;.;FBW1B_HUMAN;.	D	114;127;93;95;148	ENSP00000296933:G114D;ENSP00000265094:G127D;ENSP00000377391:G93D;ENSP00000444929:G95D;ENSP00000428753:G148D	ENSP00000265094:G127D	G	-	2	0	FBXW11	171259703	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.771000	0.85420	2.195000	0.70347	0.462000	0.41574	GGC	FBXW11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372381.1		-	ENST00000296933.6	Missense_Mutation	SNP	5 : 171327098 - 171327098 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	666	120
ZNF548	147694	broad.mit.edu	37	19	57909869	57909869	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57909869A>G	ENST00000366197.5	+	3	464	c.214A>G	c.(214-216)Aca>Gca	p.T72A	AC003002.6_ENST00000600421.1_Intron|ZNF548_ENST00000597400.1_3'UTR|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.T84A|AC004076.7_ENST00000597410.1_Intron|AC003002.4_ENST00000597658.1_Missense_Mutation_p.T75A	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	72	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTCAGAGGTTACAGCTTCAAA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	97	97			NA	NA	19		NA											NA				57909869		2142	4282	6424	SO:0001583	missense			AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785	147694	147694		Zinc fingers, C2H2-type, -	26561	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152909	NM_152909	NA	Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.214A>G	19.37:g.57909869A>G	ENSP00000379482:p.Thr72Ala	NA	Q96M05	37	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	A	9.353	1.065906	0.20067	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.04970	3.52;3.52	3.25	3.25	0.37280	Krueppel-associated box (1);	.	.	.	.	T	0.02929	0.0087	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.0	T	0.46190	-0.9209	9	0.14656	T	0.56	.	5.164	0.15075	0.8649:0.0:0.1351:0.0	.	84;72	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	A	84;72	ENSP00000337555:T84A;ENSP00000379482:T72A	ENSP00000337555:T84A	T	+	1	0	ZNF548	62601681	0.000000	0.05858	0.014000	0.15608	0.006000	0.05464	0.041000	0.13927	1.500000	0.48636	0.377000	0.23210	ACA	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465937.1		+	ENST00000366197.5	Missense_Mutation	SNP	19 : 57909869 - 57909869 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	423	66
IFT122	55764	broad.mit.edu	37	3	129238491	129238491	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129238491G>T	ENST00000296266.3	+	30	3897	c.3705G>T	c.(3703-3705)aaG>aaT	p.K1235N	IFT122_ENST00000431818.2_Missense_Mutation_p.K1034N|IFT122_ENST00000349441.2_Missense_Mutation_p.K1074N|IFT122_ENST00000348417.2_Missense_Mutation_p.K1184N|IFT122_ENST00000507564.1_Missense_Mutation_p.K1177N|IFT122_ENST00000440957.2_Missense_Mutation_p.K975N|IFT122_ENST00000504021.1_Missense_Mutation_p.K1061N|IFT122_ENST00000347300.2_Missense_Mutation_p.K1125N	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	1184					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TCCTCATCAAGCGATGGCCCC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	90	97			NA	NA	3		NA											NA				129238491		2203	4300	6503	SO:0001583	missense			AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913	55764	55764		WD repeat domain containing, Intraflagellar transport homologs	13556	protein-coding gene	gene with protein product		606045	WD repeat domain 10, intraflagellar transport 122 homolog (Chlamydomonas)	WDR10	NA	11242542	Standard	NM_018262	NM_052985	NA	Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000296266.3:c.3705G>T	3.37:g.129238491G>T	ENSP00000296266:p.Lys1235Asn	NA	Q53G36|Q9HAT9|Q9UF80	37	CCDS3060.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.561673	0.27915	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957	T;T;T;T;T;T;T;T	0.61510	0.75;0.1;0.24;0.29;0.9;0.89;0.74;0.31	5.97	4.2	0.49525	.	0.043465	0.85682	D	0.000000	T	0.68805	0.3041	M	0.70595	2.14	0.80722	D	1	D;D;D;P;P;P;P;P;D;D	0.67145	0.989;0.992;0.993;0.93;0.791;0.69;0.69;0.793;0.981;0.996	P;D;P;P;B;B;B;P;P;P	0.64687	0.787;0.928;0.738;0.615;0.335;0.335;0.335;0.536;0.617;0.866	T	0.65516	-0.6149	10	0.21014	T	0.42	-25.1101	10.6061	0.45394	0.2547:0.0:0.7453:0.0	.	975;510;1177;572;1061;1026;1074;1125;1184;1235	E9PDG2;B3KUD1;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;.;IF122_HUMAN;.	N	1125;1235;1177;1034;1061;1074;1184;1026;975	ENSP00000323973:K1125N;ENSP00000296266:K1235N;ENSP00000425536:K1177N;ENSP00000410946:K1034N;ENSP00000422179:K1061N;ENSP00000324165:K1074N;ENSP00000324005:K1184N;ENSP00000401569:K975N	ENSP00000296266:K1235N	K	+	3	2	IFT122	130721181	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	0.995000	0.29706	0.881000	0.35993	0.655000	0.94253	AAG	IFT122-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355851.1		+	ENST00000296266.3	Missense_Mutation	SNP	3 : 129238491 - 129238491 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	434	76
SIX4	51804	broad.mit.edu	37	14	61186943	61186943	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61186943C>T	ENST00000216513.4	-	2	1143	c.1084G>A	c.(1084-1086)Gtc>Atc	p.V362I		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	362						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		TTAAGGAAGACAGGTGAAGTA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	91	92			NA	NA	14		NA											NA				61186943		2203	4300	6503	SO:0001583	missense			AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625	51804	51804		Homeoboxes / SINE class	10890	protein-coding gene	gene with protein product		606342	sine oculis homeobox (Drosophila) homolog 4, sine oculis homeobox homolog 4 (Drosophila)		NA	10512683, 10640827	Standard		NM_017420	NA	Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.1084G>A	14.37:g.61186943C>T	ENSP00000216513:p.Val362Ile	NA	Q4QQH5|Q4V764	37	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377563	0.82682	.	.	ENSG00000100625	ENST00000216513;ENST00000554079;ENST00000556952	D;T	0.91740	-2.9;0.11	5.62	5.62	0.85841	.	0.066731	0.64402	D	0.000014	D	0.93779	0.8011	L	0.29908	0.895	0.53688	D	0.999974	D;P	0.67145	0.996;0.9	D;B	0.77557	0.99;0.36	D	0.94100	0.7361	10	0.56958	D	0.05	.	19.6764	0.95936	0.0:1.0:0.0:0.0	.	354;362	G3V2N2;Q9UIU6	.;SIX4_HUMAN	I	362;35;354	ENSP00000216513:V362I;ENSP00000451537:V35I	ENSP00000216513:V362I	V	-	1	0	SIX4	60256696	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.298000	0.78815	2.660000	0.90430	0.655000	0.94253	GTC	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000072397.2		-	ENST00000216513.4	Missense_Mutation	SNP	14 : 61186943 - 61186943 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	460	19
OR6K2	81448	broad.mit.edu	37	1	158669633	158669633	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158669633G>T	ENST00000359610.2	-	1	853	c.810C>A	c.(808-810)ttC>ttA	p.F270L		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					CTATATCCCAGAACAAAGAGT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	99	101			NA	NA	1		NA											NA				158669633		2203	4300	6503	SO:0001583	missense			BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171	81448	81448		GPCR / Class A : Olfactory receptors	15029	protein-coding gene	gene with protein product					NA		Standard	NM_001005279	NM_001005279	NA	Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.810C>A	1.37:g.158669633G>T	ENSP00000352626:p.Phe270Leu	NA	B9EH33|Q6IFR6	37	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	G	8.457	0.854524	0.17106	.	.	ENSG00000196171	ENST00000359610	T	0.00058	8.79	4.94	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	D	0.000525	T	0.00039	0.0001	N	0.04820	-0.15	0.24203	N	0.995501	B	0.11235	0.004	B	0.20384	0.029	T	0.41360	-0.9513	10	0.28530	T	0.3	-14.1783	3.9631	0.09420	0.0876:0.1584:0.5905:0.1635	.	270	Q8NGY2	OR6K2_HUMAN	L	270	ENSP00000352626:F270L	ENSP00000352626:F270L	F	-	3	2	OR6K2	156936257	0.167000	0.22975	0.999000	0.59377	0.980000	0.70556	0.303000	0.19210	1.287000	0.44583	0.655000	0.94253	TTC	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059061.1		-	ENST00000359610.2	Missense_Mutation	SNP	1 : 158669633 - 158669633 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	268	65
CRYBG3	131544	broad.mit.edu	37	3	97655719	97655719	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97655719G>A	ENST00000182096.4	+	16	2692	c.2628G>A	c.(2626-2628)tgG>tgA	p.W876*	CRYBG3_ENST00000389622.2_Nonsense_Mutation_p.W83*|CRYBG3_ENST00000485253.1_3'UTR	NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3	NA										breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TCAGCAGATGGAAAACAATTG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	82	85			NA	NA	3		NA											NA				97655719		1857	4108	5965	SO:0001587	stop_gained					3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200	131544	131544			34427	protein-coding gene	gene with protein product					NA		Standard	NM_153605	NM_153605	NA	Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.2628G>A	3.37:g.97655719G>A	ENSP00000182096:p.Trp876*	NA		37		.	.	.	.	.	.	.	.	.	.	G	39	7.439729	0.98286	.	.	ENSG00000080200	ENST00000182096;ENST00000495403;ENST00000389622	.	.	.	5.54	5.54	0.83059	.	1.814360	0.02012	N	0.047103	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.1055	0.93293	0.0:0.0:1.0:0.0	.	.	.	.	X	876;82;83	.	ENSP00000182096:W876X	W	+	3	0	CRYBG3	99138409	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	6.332000	0.72934	2.609000	0.88269	0.655000	0.94253	TGG	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000353751.1		+	ENST00000182096.4	Nonsense_Mutation	SNP	3 : 97655719 - 97655719 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	285	59
DMXL1	1657	broad.mit.edu	37	5	118485814	118485814	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118485814C>T	ENST00000311085.8	+	18	4372	c.4292C>T	c.(4291-4293)aCg>aTg	p.T1431M	DMXL1_ENST00000539542.1_Missense_Mutation_p.T1431M	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1431								p.T1431M(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AATGAGAGTACGTTAAGTAAA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											79	79	79			NA	NA	5		NA											NA				118485814		2202	4299	6501	SO:0001583	missense			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869	1657	1657		WD repeat domain containing	2937	protein-coding gene	gene with protein product		605671			NA	10708522	Standard	NM_005509	NM_005509	NA	Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.4292C>T	5.37:g.118485814C>T	ENSP00000309690:p.Thr1431Met	NA		37	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	8.914	0.959535	0.18507	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.10192	2.9;2.9	5.43	2.49	0.30216	.	0.861240	0.10758	N	0.637577	T	0.10423	0.0255	L	0.43152	1.355	0.09310	N	1	P;P	0.50272	0.917;0.933	B;P	0.44897	0.333;0.463	T	0.22906	-1.0203	10	0.34782	T	0.22	-0.933	4.1577	0.10268	0.2541:0.447:0.223:0.076	.	1431;1431	F5H269;Q9Y485	.;DMXL1_HUMAN	M	1431	ENSP00000309690:T1431M;ENSP00000439479:T1431M	ENSP00000309690:T1431M	T	+	2	0	DMXL1	118513713	0.001000	0.12720	0.958000	0.39756	0.802000	0.45316	0.504000	0.22626	0.760000	0.33108	0.563000	0.77884	ACG	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250862.1		+	ENST00000311085.8	Missense_Mutation	SNP	5 : 118485814 - 118485814 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	455	96
LRRC37B	114659	broad.mit.edu	37	17	30349743	30349743	+	Silent	SNP	C	C	T	rs146053152		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30349743C>T	ENST00000543378.2	+	4	1667	c.1332C>T	c.(1330-1332)tgC>tgT	p.C444C	LRRC37B_ENST00000394713.3_Silent_p.C526C|LRRC37B_ENST00000341671.7_Silent_p.C526C|LRRC37B_ENST00000327564.7_Silent_p.C553C|LRRC37B_ENST00000584368.1_Silent_p.C538C|LRRC37B_ENST00000581786.1_3'UTR			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	526						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TCTGCACCTGCGGAGATGAGA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4402		0,0,2201	75	69	71		1578	-1.8	0	17	dbSNP_134	71	2,8586		0,2,4292	no	coding-synonymous	LRRC37B	NM_052888.2		0,2,6493	TT,TC,CC	NA	0.0233,0.0,0.0154		526/948	30349743	2,12988	2201	4294	6495	SO:0001819	synonymous_variant			AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158	114659	114659			29070	protein-coding gene	gene with protein product	KIAA0563-related				NA	11468690, 10843809	Standard	NM_052888	NM_052888	NA	Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000543378.2:c.1332C>T	17.37:g.30349743C>T		NA	Q5YKG6	37																																																																																				LRRC37B-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000446503.1		+	ENST00000543378.2	Silent	SNP	17 : 30349743 - 30349743 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	744	121
ZNF235	9310	broad.mit.edu	37	19	44792320	44792320	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44792320C>A	ENST00000291182.4	-	5	1370	c.1268G>T	c.(1267-1269)aGa>aTa	p.R423I	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				AGTGTGAATTCTTTCATGGGC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	86	87			NA	NA	19		NA											NA				44792320		2203	4300	6503	SO:0001583	missense			X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917	9310	9310		Zinc fingers, C2H2-type, -	12866	protein-coding gene	gene with protein product		604749	zinc finger protein homologous to Zfp93 in mouse	ZNF270, ZFP93	NA	7865130, 9570955	Standard		NM_004234	NA	Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.1268G>T	19.37:g.44792320C>A	ENSP00000291182:p.Arg423Ile	NA	B4DTQ7|O14898|O14899|Q17RR8	37	CCDS33048.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940732	0.52972	.	.	ENSG00000159917	ENST00000391957;ENST00000291182;ENST00000359844	T	0.24908	1.83	4.08	4.08	0.47627	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41605	D	0.000853	T	0.46014	0.1371	M	0.64170	1.965	0.46725	D	0.999174	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.40553	-0.9557	10	0.52906	T	0.07	.	12.5135	0.56019	0.0:0.8298:0.1702:0.0	.	419;423	Q14590-2;Q14590	.;ZN235_HUMAN	I	423;423;345	ENSP00000291182:R423I	ENSP00000291182:R423I	R	-	2	0	ZNF235	49484160	0.000000	0.05858	0.967000	0.41034	0.920000	0.55202	-0.039000	0.12124	2.233000	0.73108	0.462000	0.41574	AGA	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460732.1		-	ENST00000291182.4	Missense_Mutation	SNP	19 : 44792320 - 44792320 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	446	16
PGK1	5230	broad.mit.edu	37	X	77369650	77369650	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77369650G>A	ENST00000373316.4	+	4	577	c.410G>A	c.(409-411)gGg>gAg	p.G137E	PGK1_ENST00000442431.1_Intron|PGK1_ENST00000537456.1_Missense_Mutation_p.G109E	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	137					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						GATGCTTCTGGGAACAAGGTA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	144	141			NA	NA	X		NA											NA				77369650		2203	4296	6499	SO:0001583	missense			L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	5230	5230	2.7.2.3		8896	protein-coding gene	gene with protein product		311800			NA	6188151, 6099325	Standard		NM_000291	NA	Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.410G>A	X.37:g.77369650G>A	ENSP00000362413:p.Gly137Glu	NA	Q5J7W1|Q6IBT6|Q8NI87	37	CCDS14438.1	.	.	.	.	.	.	.	.	.	.	g	25.6	4.659388	0.88154	.	.	ENSG00000102144	ENST00000373316;ENST00000537456	D;D	0.92495	-3.05;-3.05	4.98	4.98	0.66077	Phosphoglycerate kinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87736	0.6252	N	0.01874	-0.695	0.80722	D	1	P	0.51653	0.947	P	0.57204	0.815	D	0.92061	0.5656	10	0.72032	D	0.01	-11.2942	16.5542	0.84481	0.0:0.0:1.0:0.0	.	137	P00558	PGK1_HUMAN	E	137;109	ENSP00000362413:G137E;ENSP00000444708:G109E	ENSP00000362413:G137E	G	+	2	0	PGK1	77256306	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.396000	0.97270	2.197000	0.70478	0.591000	0.81541	GGG	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057310.1		+	ENST00000373316.4	Missense_Mutation	SNP	X : 77369650 - 77369650 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	734	174
PPP1R26	9858	broad.mit.edu	37	9	138379085	138379085	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138379085G>T	ENST00000356818.2	+	4	3278	c.2729G>T	c.(2728-2730)aGc>aTc	p.S910I	PPP1R26_ENST00000401470.3_Missense_Mutation_p.S910I|PPP1R26_ENST00000604351.1_Missense_Mutation_p.S910I|PPP1R26_ENST00000605286.1_Missense_Mutation_p.S910I|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Missense_Mutation_p.S910I	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	910						nucleolus	protein binding				NA						GGCACAGAGAGCGCAGGAGCA	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	43	41			NA	NA	9		NA											NA				138379085		2095	4091	6186	SO:0001583	missense			AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422	9858	9858		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	29089	protein-coding gene	gene with protein product	DRIM/UTP20 interacting protein, 1A6/DRIM (down-regulated in metastasis) interacting protein	614056	KIAA0649	KIAA0649	NA	9734811, 16053918	Standard	NM_014811	NM_014811	NA	Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.2729G>T	9.37:g.138379085G>T	ENSP00000349274:p.Ser910Ile	NA	Q86WU0|Q8WVV0|Q9Y4D3	37	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.489394	0.44249	.	.	ENSG00000196422	ENST00000356818	T	0.10099	2.91	4.33	2.05	0.26809	.	0.874319	0.09781	N	0.756616	T	0.07908	0.0198	N	0.22421	0.69	0.09310	N	1	P	0.35982	0.531	B	0.34242	0.178	T	0.33394	-0.9870	10	0.51188	T	0.08	-4.4148	8.6767	0.34183	0.2301:0.0:0.7699:0.0	.	910	Q5T8A7	PPR26_HUMAN	I	910	ENSP00000349274:S910I	ENSP00000349274:S910I	S	+	2	0	KIAA0649	137518906	0.001000	0.12720	0.006000	0.13384	0.063000	0.16089	0.447000	0.21710	0.807000	0.34208	0.462000	0.41574	AGC	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054987.1		+	ENST00000356818.2	Missense_Mutation	SNP	9 : 138379085 - 138379085 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	655	142
NBEAL2	23218	broad.mit.edu	37	3	47030423	47030423	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47030423G>A	ENST00000450053.3	+	3	411	c.232G>A	c.(232-234)Gcc>Acc	p.A78T	NBEAL2_ENST00000292309.5_Missense_Mutation_p.A78T|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	78							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCTGGAGCAAGCCCTCCTGCT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	53	51			NA	NA	3		NA											NA				47030423		2158	4259	6417	SO:0001583	missense			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796	23218	23218		WD repeat domain containing	31928	protein-coding gene	gene with protein product		614169			NA		Standard	XM_291064	NM_015175	NA	Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.232G>A	3.37:g.47030423G>A	ENSP00000415034:p.Ala78Thr	NA	O60288|Q6P994|Q6UX91|Q8NAC9	37	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918185	0.33815	.	.	ENSG00000160796	ENST00000292309;ENST00000450053;ENST00000296147	T;T	0.60040	0.22;0.24	4.07	2.25	0.28309	.	.	.	.	.	T	0.50257	0.1605	M	0.63843	1.955	0.80722	D	1	B;B	0.16603	0.018;0.002	B;B	0.18561	0.022;0.002	T	0.45673	-0.9245	9	0.54805	T	0.06	.	6.2584	0.20887	0.3197:0.0:0.6803:0.0	.	71;78	Q6ZNJ1-4;Q6ZNJ1	.;NBEL2_HUMAN	T	78;78;71	ENSP00000292309:A78T;ENSP00000415034:A78T	ENSP00000292309:A78T	A	+	1	0	NBEAL2	47005427	0.380000	0.25131	0.704000	0.30370	0.708000	0.40852	1.522000	0.35921	0.370000	0.24538	0.561000	0.74099	GCC	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344363.3		+	ENST00000450053.3	Missense_Mutation	SNP	3 : 47030423 - 47030423 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	225	33
BMS1	9790	broad.mit.edu	37	10	43315745	43315745	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43315745G>A	ENST00000374518.5	+	16	2705	c.2642G>A	c.(2641-2643)cGa>cAa	p.R881Q		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	NA					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAGGGTTTTCGACCTGGGATG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	121	122			NA	NA	10		NA											NA				43315745		2203	4300	6503	SO:0001583	missense			BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733	9790	9790			23505	protein-coding gene	gene with protein product		611448	BMS1-like, ribosome assembly protein (yeast), BMS1 homolog, ribosome assembly protein (yeast)	BMS1L	NA	11779832	Standard	NM_014753	NM_014753	NA	Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.2642G>A	10.37:g.43315745G>A	ENSP00000363642:p.Arg881Gln	NA	Q5QPT5|Q86XJ9	37	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	33	5.201816	0.94997	.	.	ENSG00000165733	ENST00000374518	T	0.17054	2.3	5.05	5.05	0.67936	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.44871	0.1314	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.35375	-0.9791	10	0.38643	T	0.18	.	18.4608	0.90737	0.0:0.0:1.0:0.0	.	881	Q14692	BMS1_HUMAN	Q	881	ENSP00000363642:R881Q	ENSP00000363642:R881Q	R	+	2	0	BMS1	42635751	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.609000	0.98334	2.352000	0.79861	0.454000	0.30748	CGA	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047690.2		+	ENST00000374518.5	Missense_Mutation	SNP	10 : 43315745 - 43315745 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	877	161
FCHO1	23149	broad.mit.edu	37	19	17873639	17873639	+	Translation_Start_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17873639G>A	ENST00000595033.1	+	0	186				FCHO1_ENST00000596536.1_Silent_p.E32E|FCHO1_ENST00000600676.1_Silent_p.E32E|FCHO1_ENST00000539407.1_Silent_p.E32E|FCHO1_ENST00000389133.4_Silent_p.E32E|FCHO1_ENST00000594202.1_Silent_p.E32E|FCHO1_ENST00000597512.1_Silent_p.E39E|FCHO1_ENST00000599236.1_3'UTR|FCHO1_ENST00000252771.7_Silent_p.E32E|FCHO1_ENST00000596951.1_Silent_p.E32E	NM_001161359.1	NP_001154831.1	O14526	FCHO1_HUMAN	FCH domain only 1	NA										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CCACCAAGGAGCTGGCGGACT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	90	95			NA	NA	19		NA											NA				17873639		2203	4300	6503					AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475	23149	23149			29002	protein-coding gene	gene with protein product		613437			NA	12477932	Standard	NM_015122	NM_001161357	NA	Approved	KIAA0290	uc002nhg.3	O14526		ENST00000595033.1:	19.37:g.17873639G>A		NA	A6NHE6|A8K5U5|Q05C93|Q8IW22	37	CCDS59366.1																																																																																			FCHO1-003	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466467.1		+	ENST00000595033.1	De_novo_Start_InFrame	SNP	19 : 17873639 - 17873639 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	551	89
PXDN	7837	broad.mit.edu	37	2	1667419	1667419	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1667419C>A	ENST00000252804.4	-	12	1575	c.1525G>T	c.(1525-1527)Ggc>Tgc	p.G509C		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	509	Ig-like C2-type 3.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TTCTGGGAGCCGATGATGTTG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	96	93			NA	NA	2		NA											NA				1667419		2032	4168	6200	SO:0001583	missense			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508	7837	7837		Immunoglobulin superfamily / I-set domain containing	14966	protein-coding gene	gene with protein product		605158			NA	10441517, 9039502	Standard	XM_056455	XM_005264707	NA	Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1525G>T	2.37:g.1667419C>A	ENSP00000252804:p.Gly509Cys	NA	A8QM65|D6W4Y0|Q4KMG2	37	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012209	0.93346	.	.	ENSG00000130508	ENST00000252804	T	0.50813	0.73	5.79	5.79	0.91817	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.111519	0.64402	D	0.000009	D	0.83949	0.5365	H	0.99475	4.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90698	0.4618	10	0.87932	D	0	-55.7987	20.0263	0.97523	0.0:1.0:0.0:0.0	.	509;509	Q92626-2;Q92626	.;PXDN_HUMAN	C	509	ENSP00000252804:G509C	ENSP00000252804:G509C	G	-	1	0	PXDN	1646426	1.000000	0.71417	0.998000	0.56505	0.837000	0.47467	7.552000	0.82192	2.735000	0.93741	0.655000	0.94253	GGC	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322505.1		-	ENST00000252804.4	Missense_Mutation	SNP	2 : 1667419 - 1667419 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	688	104
TMEM45A	55076	broad.mit.edu	37	3	100287799	100287799	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100287799C>A	ENST00000403410.1	+	7	1390	c.770C>A	c.(769-771)gCt>gAt	p.A257D	TMEM45A_ENST00000323523.4_Missense_Mutation_p.A241D			Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	241						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						ATGAATTATGCTTTCATTACC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													252	241	244			NA	NA	3		NA											NA				100287799		2203	4300	6503	SO:0001583	missense			AK000996	CCDS2937.1	3q12.2	2005-02-04			ENSG00000181458	ENSG00000181458	55076	55076			25480	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_018004	XM_005247568	NA	Approved	FLJ10134, DERP7	uc003dtz.1	Q9NWC5	OTTHUMG00000150327	ENST00000403410.1:c.770C>A	3.37:g.100287799C>A	ENSP00000385089:p.Ala257Asp	NA	Q53YW5	37		.	.	.	.	.	.	.	.	.	.	C	11.45	1.642226	0.29157	.	.	ENSG00000181458	ENST00000323523;ENST00000403410	T;T	0.46819	0.86;0.86	5.81	1.73	0.24493	.	0.392722	0.31061	N	0.008325	T	0.52533	0.1740	M	0.75447	2.3	0.20563	N	0.999889	D	0.55800	0.973	P	0.52856	0.711	T	0.44143	-0.9347	10	0.36615	T	0.2	-2.4107	6.2562	0.20876	0.0:0.5907:0.1208:0.2885	.	241	Q9NWC5	TM45A_HUMAN	D	241;257	ENSP00000319009:A241D;ENSP00000385089:A257D	ENSP00000319009:A241D	A	+	2	0	TMEM45A	101770489	0.332000	0.24722	0.012000	0.15200	0.057000	0.15508	0.324000	0.19610	0.032000	0.15435	0.555000	0.69702	GCT	TMEM45A-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000317572.2		+	ENST00000403410.1	Missense_Mutation	SNP	3 : 100287799 - 100287799 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	849	191
FLG	2312	broad.mit.edu	37	1	152283914	152283914	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152283914G>A	ENST00000368799.1	-	3	3483	c.3448C>T	c.(3448-3450)Cga>Tga	p.R1150*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1150	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCTGTCTCGTGCCTGCTCG	0.597		NA							Ichthyosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													195	235	221			NA	NA	1		NA											NA				152283914		2203	4296	6499	SO:0001587	stop_gained	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631	2312	2312		EF-hand domain containing	3748	protein-coding gene	gene with protein product		135940			NA	2740331, 2248957, 16444271	Standard	NM_002016	NM_002016	NA	Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3448C>T	1.37:g.152283914G>A	ENSP00000357789:p.Arg1150*	NA	Q01720|Q5T583|Q9UC71	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	37	6.443577	0.97572	.	.	ENSG00000143631	ENST00000368799	.	.	.	3.05	-6.11	0.02131	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	1.8586	0.03184	0.1111:0.3099:0.282:0.2969	.	.	.	.	X	1150	.	ENSP00000357789:R1150X	R	-	1	2	FLG	150550538	0.000000	0.05858	0.000000	0.03702	0.172000	0.22775	-8.221000	0.00023	-1.998000	0.00968	0.186000	0.17326	CGA	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033742.1		-	ENST00000368799.1	Nonsense_Mutation	SNP	1 : 152283914 - 152283914 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2768	113
C4orf50	389197	broad.mit.edu	37	4	5975525	5975525	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5975525C>T	ENST00000531445.1	-	4	1737	c.1691G>A	c.(1690-1692)cGc>cAc	p.R564H	C4orf50_ENST00000324058.5_Missense_Mutation_p.R90H			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	90										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						GGTGATCAGGCGGTTCCTCTC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	62	64			NA	NA	4		NA											NA				5975525		2203	4300	6503	SO:0001583	missense			BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215	389197	389197			33766	protein-coding gene	gene with protein product					NA		Standard	NM_207405	XM_003119922	NA	Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000531445.1:c.1691G>A	4.37:g.5975525C>T	ENSP00000437121:p.Arg564His	NA		37		.	.	.	.	.	.	.	.	.	.	C	0.172	-1.070634	0.01918	.	.	ENSG00000181215	ENST00000531445;ENST00000324058	T;T	0.23552	1.9;1.9	4.6	-8.19	0.01049	.	1.351300	0.05126	N	0.491658	T	0.05227	0.0139	N	0.00729	-1.24	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.25950	-1.0117	10	0.14656	T	0.56	-2.3071	3.5234	0.07751	0.1109:0.4458:0.1113:0.332	.	90	Q6ZRC1	CD050_HUMAN	H	564;90	ENSP00000437121:R564H;ENSP00000317287:R90H	ENSP00000317287:R90H	R	-	2	0	C4orf50	6026426	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.011000	0.01452	-1.989000	0.00979	-0.254000	0.11334	CGC	C4orf50-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000314647.3		-	ENST00000531445.1	Missense_Mutation	SNP	4 : 5975525 - 5975525 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	373	16
OR6C1	390321	broad.mit.edu	37	12	55714983	55714983	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55714983T>G	ENST00000379668.2	+	1	638	c.600T>G	c.(598-600)tgT>tgG	p.C200W		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						GATTTTCTTGTGCTGCGTTTA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	82	86			NA	NA	12		NA											NA				55714983		2202	4300	6502	SO:0001583	missense			AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330	390321	390321		GPCR / Class A : Olfactory receptors	8355	protein-coding gene	gene with protein product					NA		Standard	NM_001005182	NM_001005182	NA	Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.600T>G	12.37:g.55714983T>G	ENSP00000368990:p.Cys200Trp	NA	B2RNM0	37	CCDS31818.1	.	.	.	.	.	.	.	.	.	.	t	7.293	0.611552	0.14066	.	.	ENSG00000205330	ENST00000379668	T	0.00099	8.73	4.77	-2.56	0.06268	GPCR, rhodopsin-like superfamily (1);	0.546234	0.18482	N	0.139892	T	0.00144	0.0004	L	0.49778	1.585	0.32672	N	0.516688	B	0.02656	0.0	B	0.12837	0.008	T	0.23797	-1.0178	10	0.54805	T	0.06	.	7.4666	0.27324	0.0:0.1527:0.5104:0.3369	.	200	Q96RD1	OR6C1_HUMAN	W	200	ENSP00000368990:C200W	ENSP00000368990:C200W	C	+	3	2	OR6C1	54001250	0.000000	0.05858	0.233000	0.24025	0.710000	0.40934	-2.652000	0.00856	-0.226000	0.09899	0.460000	0.39030	TGT	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398152.1		+	ENST00000379668.2	Missense_Mutation	SNP	12 : 55714983 - 55714983 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	227	44
MYH7B	57644	broad.mit.edu	37	20	33582190	33582190	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33582190C>A	ENST00000262873.7	+	25	2904	c.2812C>A	c.(2812-2814)Ctg>Atg	p.L938M		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	896						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TGACCTGGCCCTGCAGCTGCA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	24	22			NA	NA	20		NA											NA				33582190		2097	4211	6308	SO:0001583	missense			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814	57644	57644		Myosins / Myosin superfamily : Class II	15906	protein-coding gene	gene with protein product		609928	myosin, heavy polypeptide 7B, cardiac muscle, beta		NA	11919279, 15014174	Standard	NM_020884	XM_006723839	NA	Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.2812C>A	20.37:g.33582190C>A	ENSP00000262873:p.Leu938Met	NA	Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	37	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693707	0.48202	.	.	ENSG00000078814	ENST00000262873	D	0.94000	-3.33	4.32	-1.0	0.10196	.	0.000000	0.30201	N	0.010175	D	0.95736	0.8613	M	0.85542	2.76	0.34256	D	0.67939	D	0.76494	0.999	D	0.85130	0.997	D	0.94844	0.8007	10	0.59425	D	0.04	.	9.0813	0.36554	0.0:0.626:0.0:0.374	.	896	A7E2Y1	MYH7B_HUMAN	M	938	ENSP00000262873:L938M	ENSP00000262873:L938M	L	+	1	2	MYH7B	33045851	0.552000	0.26505	0.976000	0.42696	0.779000	0.44077	1.227000	0.32576	-0.240000	0.09696	-0.768000	0.03414	CTG	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078833.2		+	ENST00000262873.7	Missense_Mutation	SNP	20 : 33582190 - 33582190 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	232	19
SYNE2	23224	broad.mit.edu	37	14	64519119	64519119	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64519119G>T	ENST00000554584.1	+	48	8638	c.8587G>T	c.(8587-8589)Gaa>Taa	p.E2863*	SYNE2_ENST00000344113.4_Nonsense_Mutation_p.E2830*|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Nonsense_Mutation_p.E2830*			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2830					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACAGCAATTAGAATTTAAGTT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	41	42			NA	NA	14		NA											NA				64519119		1810	4083	5893	SO:0001587	stop_gained			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654	23224	23224			17084	protein-coding gene	gene with protein product	nuclear envelope spectrin repeat-2, nucleus and actin connecting element	608442			NA	10231032, 10878022	Standard	NM_182914	NM_182910	NA	Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000554584.1:c.8587G>T	14.37:g.64519119G>T	ENSP00000452570:p.Glu2863*	NA	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	37		.	.	.	.	.	.	.	.	.	.	G	50	16.124919	0.99855	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	.	.	.	5.27	5.27	0.74061	.	0.000000	0.51477	D	0.000095	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	11.543	0.50677	0.0821:0.0:0.9179:0.0	.	.	.	.	X	2830;2830;2863;2863	.	ENSP00000261678:E2863X	E	+	1	0	SYNE2	63588872	1.000000	0.71417	0.996000	0.52242	0.937000	0.57800	3.719000	0.54926	2.475000	0.83589	0.313000	0.20887	GAA	SYNE2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000411905.1		+	ENST00000554584.1	Nonsense_Mutation	SNP	14 : 64519119 - 64519119 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	293	58
FBXW7	55294	broad.mit.edu	37	4	153258977	153258977	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:153258977A>G	ENST00000281708.4	-	5	2067	c.838T>C	c.(838-840)Ttc>Ctc	p.F280L	RP11-461L13.2_ENST00000605147.1_RNA|FBXW7_ENST00000263981.5_Missense_Mutation_p.F200L|FBXW7_ENST00000296555.5_Missense_Mutation_p.F162L|FBXW7_ENST00000393956.3_Missense_Mutation_p.F104L|FBXW7_ENST00000603548.1_Missense_Mutation_p.F280L|FBXW7_ENST00000603841.1_Missense_Mutation_p.F280L	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	280	F-box.				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AATGAAATGAAGTCTCGTTGA	0.343		NA	Mis, N, D, F		colorectal, endometrial, T-ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		4	4q31.3	55294	F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)		E, L	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											178	173	175			NA	NA	4		NA											NA				153258977		2203	4300	6503	SO:0001583	missense			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23				NA	55294		F-boxes / WD-40 domains, WD repeat domain containing	16712	protein-coding gene	gene with protein product	archipelago homolog (Drosophila)	606278	F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila), F-box and WD repeat domain containing 7		NA	10531037, 11425854	Standard		NM_018315	NA	Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.838T>C	4.37:g.153258977A>G	ENSP00000281708:p.Phe280Leu	NA	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.552008	0.86127	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.63	5.63	0.86233	F-box domain, cyclin-like (1);F-box domain, Skp2-like (1);	0.094416	0.85682	D	0.000000	T	0.69700	0.3140	M	0.64260	1.97	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.997;0.999;0.999	T	0.69131	-0.5226	10	0.40728	T	0.16	-15.5855	15.8279	0.78727	1.0:0.0:0.0:0.0	.	104;280;162;200	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	L	280;162;200;104	ENSP00000281708:F280L;ENSP00000296555:F162L;ENSP00000263981:F200L;ENSP00000377528:F104L	ENSP00000263981:F200L	F	-	1	0	FBXW7	153478427	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	9.268000	0.95675	2.133000	0.65898	0.528000	0.53228	TTC	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000469956.1		-	ENST00000281708.4	Missense_Mutation	SNP	4 : 153258977 - 153258977 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	312	50
VGLL1	51442	broad.mit.edu	37	X	135632947	135632947	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135632947C>T	ENST00000370634.3	+	4	825	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C	VGLL1_ENST00000470358.1_3'UTR	NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial-like family member 1	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					ATATGTATCTCGTGGATCTGC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	132	134			NA	NA	X		NA											NA				135632947		2203	4300	6503	SO:0001583	missense			AF137387	CCDS14658.1	Xq26.3	2014-03-03	2014-03-03		ENSG00000102243	ENSG00000102243	51442	51442			20985	protein-coding gene	gene with protein product		300583	vestigial like 1 (Drosophila)		NA	10518497	Standard	NM_016267	NM_016267	NA	Approved	TONDU, TDU	uc004ezy.3	Q99990	OTTHUMG00000022509	ENST00000370634.3:c.655C>T	X.37:g.135632947C>T	ENSP00000359668:p.Arg219Cys	NA	Q5H915	37	CCDS14658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.44|12.44	1.937268|1.937268	0.34189|0.34189	.|.	.|.	ENSG00000102243|ENSG00000102243	ENST00000370634;ENST00000430688;ENST00000456412|ENST00000440515	T;T|T	0.60424|0.50277	0.74;0.19|0.75	5.15|5.15	-2.25|-2.25	0.06888|0.06888	.|.	1.249760|.	0.05308|.	N|.	0.524240|.	T|T	0.20618|0.20618	0.0496|0.0496	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B|.	0.22983|.	0.078|.	B|.	0.11329|.	0.006|.	T|T	0.28870|0.28870	-1.0030|-1.0030	10|7	0.72032|0.02654	D|T	0.01|1	-0.0024|-0.0024	5.8179|5.8179	0.18506|0.18506	0.0:0.2538:0.4018:0.3444|0.0:0.2538:0.4018:0.3444	.|.	219|.	Q99990|.	VGLL1_HUMAN|.	C|L	219;76;21|136	ENSP00000359668:R219C;ENSP00000388868:R21C|ENSP00000398360:S136L	ENSP00000359668:R219C|ENSP00000398360:S136L	R|S	+|+	1|2	0|0	VGLL1|VGLL1	135460613|135460613	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.021000|0.021000	0.10359|0.10359	-0.068000|-0.068000	0.11561|0.11561	-0.852000|-0.852000	0.04141|0.04141	0.600000|0.600000	0.82982|0.82982	CGT|TCG	VGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058493.1		+	ENST00000370634.3	Missense_Mutation	SNP	X : 135632947 - 135632947 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	37
DCHS1	8642	broad.mit.edu	37	11	6645358	6645358	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6645358C>T	ENST00000299441.3	-	21	7960	c.7549G>A	c.(7549-7551)Gct>Act	p.A2517T		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2517	Cadherin 24.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A2517T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGTCCACAGCGGCATGGCTG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											27	28	28			NA	NA	11		NA											NA				6645358		2201	4296	6497	SO:0001583	missense			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341	8642	8642		Cadherins / Cadherin-related	13681	protein-coding gene	gene with protein product	cadherin-related family member 6	603057	protocadherin 16, dachsous 1 (Drosophila)	CDH25, PCDH16	NA	9199196	Standard	NM_003737	XM_005253207	NA	Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.7549G>A	11.37:g.6645358C>T	ENSP00000299441:p.Ala2517Thr	NA	O15098	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	0.279	-0.987492	0.02180	.	.	ENSG00000166341	ENST00000299441	T	0.51071	0.72	4.78	-3.44	0.04796	Cadherin (4);Cadherin-like (1);	0.801687	0.10522	N	0.664820	T	0.24236	0.0587	N	0.20766	0.605	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.27706	-1.0066	10	0.13470	T	0.59	.	6.5608	0.22485	0.1193:0.4814:0.0:0.3993	.	2517	Q96JQ0	PCD16_HUMAN	T	2517	ENSP00000299441:A2517T	ENSP00000299441:A2517T	A	-	1	0	DCHS1	6601934	0.001000	0.12720	0.781000	0.31783	0.363000	0.29612	0.260000	0.18424	-0.169000	0.10834	0.462000	0.41574	GCT	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257258.1		-	ENST00000299441.3	Missense_Mutation	SNP	11 : 6645358 - 6645358 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	114	24
PHLDB2	90102	broad.mit.edu	37	3	111658331	111658331	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111658331C>T	ENST00000495180.1	+	6	920	c.898C>T	c.(898-900)Ctg>Ttg	p.L300L	PHLDB2_ENST00000431670.2_Silent_p.L714L|PHLDB2_ENST00000393923.3_Silent_p.L698L|PHLDB2_ENST00000412622.1_Silent_p.L671L|PHLDB2_ENST00000393925.3_Silent_p.L714L|PHLDB2_ENST00000481953.1_Silent_p.L671L			Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	714						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GGATGCTGACCTGTTGGATGT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	109	112			NA	NA	3		NA											NA				111658331		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824	90102	90102		Pleckstrin homology (PH) domain containing	29573	protein-coding gene	gene with protein product		610298			NA	12376540	Standard	NM_145753	NM_145753	NA	Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000495180.1:c.898C>T	3.37:g.111658331C>T		NA	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	37																																																																																				PHLDB2-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000354340.1		+	ENST00000495180.1	Silent	SNP	3 : 111658331 - 111658331 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	566	40
SYNRG	11276	broad.mit.edu	37	17	35914119	35914119	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35914119C>T	ENST00000394378.2	-	13	1497	c.1472G>A	c.(1471-1473)gGt>gAt	p.G491D	SYNRG_ENST00000346661.4_Missense_Mutation_p.G569D|SYNRG_ENST00000585472.1_Missense_Mutation_p.G490D|SYNRG_ENST00000591288.1_Missense_Mutation_p.G408D|SYNRG_ENST00000345615.4_Missense_Mutation_p.G491D|SYNRG_ENST00000502449.2_Missense_Mutation_p.G491D|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000339208.6_Missense_Mutation_p.G569D	NM_198882.1	NP_942583.1	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	569					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATCGGTGAAACCATCATCAGT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	150	151			NA	NA	17		NA											NA				35914119		2203	4300	6503	SO:0001583	missense			AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066	11276	11276			557	protein-coding gene	gene with protein product	gamma-synergin, adaptor-related protein complex 1 gamma subunit-binding protein 1	607291	AP1 gamma subunit binding protein 1	AP1GBP1	NA	10477754	Standard	NM_007247	XM_005256980	NA	Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000394378.2:c.1472G>A	17.37:g.35914119C>T	ENSP00000377903:p.Gly491Asp	NA	B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	37	CCDS54114.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863236	0.71949	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T;T;T	0.58652	0.89;1.43;0.32;0.34	6.08	6.08	0.98989	.	0.149646	0.64402	D	0.000011	T	0.74253	0.3692	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.995;1.0;1.0;1.0;1.0;1.0	T	0.69749	-0.5061	10	0.39692	T	0.17	-18.8664	19.6516	0.95815	0.0:1.0:0.0:0.0	.	408;491;491;491;569;569	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	D	569;408;569;491;491	ENSP00000005279:G569D;ENSP00000343610:G408D;ENSP00000424893:G491D;ENSP00000377903:G491D	ENSP00000343610:G408D	G	-	2	0	SYNRG	32988232	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.894000	0.99253	0.655000	0.94253	GGT	SYNRG-008	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359433.1		-	ENST00000394378.2	Missense_Mutation	SNP	17 : 35914119 - 35914119 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	607	82
NCAN	1463	broad.mit.edu	37	19	19344688	19344688	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19344688G>A	ENST00000252575.6	+	9	3209	c.3110G>A	c.(3109-3111)gGc>gAc	p.G1037D	NCAN_ENST00000538881.1_Missense_Mutation_p.G488D	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	NA	EGF-like 1.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			TGTGATCAGGGCTTCGCCGGG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	110	122			NA	NA	19		NA											NA				19344688		2203	4300	6503	SO:0001583	missense			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287	1463	1463		Immunoglobulin superfamily / V-set domain containing, Proteoglycans / Extracellular Matrix : Hyalectans, Endogenous ligands	2465	protein-coding gene	gene with protein product	neurocan proteoglycan	600826	chondroitin sulfate proteoglycan 3	CSPG3	NA	1326557, 21353194	Standard	NM_004386	NM_004386	NA	Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3110G>A	19.37:g.19344688G>A	ENSP00000252575:p.Gly1037Asp	NA	Q9UPK6	37	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443611	0.83993	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.98192	-3.78;-4.78	4.73	4.73	0.59995	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.38720	N	0.001585	D	0.98924	0.9635	M	0.86178	2.8	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99342	1.0912	10	0.87932	D	0	.	15.5873	0.76495	0.0:0.0:1.0:0.0	.	1051;1037	Q4LE67;O14594	.;NCAN_HUMAN	D	1051;1037;488	ENSP00000252575:G1037D;ENSP00000442202:G488D	ENSP00000252575:G1037D	G	+	2	0	NCAN	19205688	1.000000	0.71417	0.998000	0.56505	0.789000	0.44602	8.872000	0.92352	2.627000	0.88993	0.563000	0.77884	GGC	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460111.2		+	ENST00000252575.6	Missense_Mutation	SNP	19 : 19344688 - 19344688 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	400	73
SORL1	6653	broad.mit.edu	37	11	121440888	121440888	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121440888G>A	ENST00000260197.7	+	23	3375	c.3246G>A	c.(3244-3246)caG>caA	p.Q1082Q	SORL1_ENST00000525532.1_Silent_p.Q26Q	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1082	LDL-receptor class A 1.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTCGCAACCAGTATCGCTGCA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													247	197	214			NA	NA	11		NA											NA				121440888		2203	4299	6502	SO:0001819	synonymous_variant			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642	6653	6653		Fibronectin type III domain containing	11185	protein-coding gene	gene with protein product	LDLR relative with 11 ligand-binding repeats	602005	chromosome 11 open reading frame 32, sortilin-related receptor, L(DLR class) A repeats-containing	C11orf32	NA	9157966, 8940146	Standard	NM_003105	NM_003105	NA	Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.3246G>A	11.37:g.121440888G>A		NA	B2RNX7|Q92856	37	CCDS8436.1																																																																																			SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387626.2		+	ENST00000260197.7	Silent	SNP	11 : 121440888 - 121440888 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	503	87
KLHDC7B	113730	broad.mit.edu	37	22	50987929	50987929	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50987929C>A	ENST00000395676.2	+	1	1468	c.1334C>A	c.(1333-1335)gCt>gAt	p.A445D		NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	445										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCCCACGAGGCTGTGGCCTGC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	70	69			NA	NA	22		NA											NA				50987929		2200	4299	6499	SO:0001583	missense			BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487	113730	113730			25145	protein-coding gene	gene with protein product					NA		Standard	NM_138433	NM_138433	NA	Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.1334C>A	22.37:g.50987929C>A	ENSP00000379034:p.Ala445Asp	NA		37	CCDS14097.2	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490482	0.84962	.	.	ENSG00000130487	ENST00000395676	T	0.70631	-0.5	5.35	4.31	0.51392	Kelch-type beta propeller (1);	0.000000	0.41294	U	0.000917	D	0.83857	0.5345	M	0.80616	2.505	0.42561	D	0.993145	D	0.89917	1.0	D	0.85130	0.997	D	0.86384	0.1731	10	0.87932	D	0	.	13.6955	0.62578	0.0:0.844:0.156:0.0	.	445	Q96G42	KLD7B_HUMAN	D	445	ENSP00000379034:A445D	ENSP00000379034:A445D	A	+	2	0	KLHDC7B	49334795	1.000000	0.71417	0.885000	0.34714	0.981000	0.71138	4.626000	0.61269	1.234000	0.43709	0.491000	0.48974	GCT	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317089.2		+	ENST00000395676.2	Missense_Mutation	SNP	22 : 50987929 - 50987929 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	689	120
CXorf36	79742	broad.mit.edu	37	X	45059910	45059910	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:45059910G>A	ENST00000398000.2	-	1	236	c.162C>T	c.(160-162)ttC>ttT	p.F54F	RP11-342D14.1_ENST00000438181.1_RNA|RP11-342D14.1_ENST00000450527.1_RNA|CXorf36_ENST00000377934.4_Silent_p.F54F	NM_176819.3	NP_789789.2	Q9H7Y0	CX036_HUMAN	chromosome X open reading frame 36	54						extracellular region				endometrium(1)|large_intestine(2)|lung(4)	7						CAAGACCGAGGAAAGTCCTTC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	74	75			NA	NA	X		NA											NA				45059910		2203	4300	6503	SO:0001819	synonymous_variant			AF289581	CCDS14266.1, CCDS48096.1	Xp11.3-p11.23	2012-08-03			ENSG00000147113	ENSG00000147113	79742	79742			25866	protein-coding gene	gene with protein product					NA	11944989, 21283809	Standard	NM_024689	NM_176819	NA	Approved	FLJ14103, DIA1R	uc004dgg.2	Q9H7Y0	OTTHUMG00000021403	ENST00000398000.2:c.162C>T	X.37:g.45059910G>A		NA	A8MUU5|B2RPN7|Q6UWJ5	37	CCDS48096.1																																																																																			CXorf36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056333.2		-	ENST00000398000.2	Silent	SNP	X : 45059910 - 45059910 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	288	74
TRPC4	7223	broad.mit.edu	37	13	38266348	38266348	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38266348G>T	ENST00000379705.3	-	4	1879	c.1022C>A	c.(1021-1023)cCt>cAt	p.P341H	TRPC4_ENST00000447043.1_Missense_Mutation_p.P341H|TRPC4_ENST00000338947.5_Missense_Mutation_p.P168H|TRPC4_ENST00000426868.2_Missense_Mutation_p.P341H|TRPC4_ENST00000358477.2_Missense_Mutation_p.P341H|TRPC4_ENST00000379679.1_Missense_Mutation_p.P168H|TRPC4_ENST00000379673.2_Missense_Mutation_p.P341H|TRPC4_ENST00000379681.3_Missense_Mutation_p.P341H|TRPC4_ENST00000355779.2_Missense_Mutation_p.P341H			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	341					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AGAGAAGACAGGAAAAAGAAG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	102	105			NA	NA	13		NA											NA				38266348		2203	4300	6503	SO:0001583	missense			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107	7223	7223		Voltage-gated ion channels / Transient receptor potential cation channels, Ankyrin repeat domain containing	12336	protein-coding gene	gene with protein product		603651			NA	8646775, 16382100	Standard	NM_003306	NM_016179	NA	Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1022C>A	13.37:g.38266348G>T	ENSP00000369027:p.Pro341His	NA	B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	37	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440831	0.83993	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	D;D;D;D;D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.95818	0.8639	H	0.95187	3.635	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.992;0.994;0.999;0.997;0.992;0.987	D	0.96799	0.9588	10	0.87932	D	0	-15.767	19.3656	0.94460	0.0:0.0:1.0:0.0	.	341;341;341;168;341;341	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	H	341;341;168;168;341;341;341;341;341	ENSP00000369027:P341H;ENSP00000369003:P341H;ENSP00000342580:P168H;ENSP00000369001:P168H;ENSP00000410133:P341H;ENSP00000348025:P341H;ENSP00000351264:P341H;ENSP00000368995:P341H;ENSP00000414316:P341H	ENSP00000342580:P168H	P	-	2	0	TRPC4	37164348	1.000000	0.71417	0.917000	0.36280	0.953000	0.61014	9.690000	0.98676	2.637000	0.89404	0.467000	0.42956	CCT	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044574.2		-	ENST00000379705.3	Missense_Mutation	SNP	13 : 38266348 - 38266348 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	233	44
ZNF592	9640	broad.mit.edu	37	15	85341876	85341876	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85341876G>T	ENST00000560079.2	+	8	3082	c.2794G>T	c.(2794-2796)Gac>Tac	p.D932Y	ZNF592_ENST00000299927.3_Missense_Mutation_p.D932Y	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	932					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GTCTTCAGCGGACACATCCTC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	45	44			NA	NA	15		NA											NA				85341876		2203	4299	6502	SO:0001583	missense			D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716	9640	9640		Zinc fingers, C2H2-type	28986	protein-coding gene	gene with protein product		613624	spinocerebellar ataxia, autosomal recessive 5	SCAR5	NA	9039502, 12030328, 20531441	Standard	NM_014630	NM_014630	NA	Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.2794G>T	15.37:g.85341876G>T	ENSP00000452877:p.Asp932Tyr	NA	Q2M1T2|Q504Y9	37	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.092952	0.36952	.	.	ENSG00000166716	ENST00000299927	T	0.00622	6.16	4.75	4.75	0.60458	.	0.330880	0.31721	N	0.007167	T	0.01627	0.0052	L	0.32530	0.975	0.37890	D	0.930687	D	0.63880	0.993	P	0.59487	0.858	T	0.73294	-0.4028	10	0.59425	D	0.04	-27.3243	15.2915	0.73870	0.0:0.0:1.0:0.0	.	932	Q92610	ZN592_HUMAN	Y	932	ENSP00000299927:D932Y	ENSP00000299927:D932Y	D	+	1	0	ZNF592	83142880	0.996000	0.38824	0.621000	0.29145	0.235000	0.25334	5.113000	0.64640	2.439000	0.82584	0.655000	0.94253	GAC	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418779.2		+	ENST00000560079.2	Missense_Mutation	SNP	15 : 85341876 - 85341876 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	286	53
SVEP1	79987	broad.mit.edu	37	9	113166795	113166795	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113166795T>C	ENST00000374469.1	-	39	9672	c.9409A>G	c.(9409-9411)Aca>Gca	p.T3137A	SVEP1_ENST00000297826.5_Missense_Mutation_p.T1086A|SVEP1_ENST00000401783.2_Missense_Mutation_p.T3160A			Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3160	Sushi 29.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CAGGTGAATGTATCTGTATCT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													252	242	245			NA	NA	9		NA											NA				113166795		1888	4116	6004	SO:0001583	missense			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124	79987	79987			15985	protein-coding gene	gene with protein product		611691	chromosome 9 open reading frame 13	C9orf13	NA		Standard		NM_153366	NA	Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000374469.1:c.9409A>G	9.37:g.113166795T>C	ENSP00000363593:p.Thr3137Ala	NA	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	37		.	.	.	.	.	.	.	.	.	.	T	15.72	2.916568	0.52546	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.65916	-0.18;-0.18;-0.18	5.76	5.76	0.90799	Complement control module (2);Sushi/SCR/CCP (3);	0.294359	0.38217	N	0.001779	T	0.63153	0.2487	M	0.73372	2.23	0.80722	D	1	P	0.44429	0.835	P	0.45071	0.468	T	0.61729	-0.7003	10	0.22706	T	0.39	.	10.7126	0.45993	0.0:0.0798:0.0:0.9202	.	3160	Q4LDE5	SVEP1_HUMAN	A	3160;3137;1086	ENSP00000384917:T3160A;ENSP00000363593:T3137A;ENSP00000297826:T1086A	ENSP00000297826:T1086A	T	-	1	0	SVEP1	112206616	0.989000	0.36119	0.992000	0.48379	0.603000	0.37013	1.670000	0.37502	2.200000	0.70718	0.482000	0.46254	ACA	SVEP1-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000053622.1		-	ENST00000374469.1	Missense_Mutation	SNP	9 : 113166795 - 113166795 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1107	222
DSCAML1	57453	broad.mit.edu	37	11	117308099	117308099	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117308099G>A	ENST00000321322.6	-	26	4640	c.4639C>T	c.(4639-4641)Ctc>Ttc	p.L1547F	DSCAML1_ENST00000527706.1_Missense_Mutation_p.L1277F	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1487	Fibronectin type-III 6.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGGGTGAAGAGGTGTTGGTCT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	147	153			NA	NA	11		NA											NA				117308099		2201	4296	6497	SO:0001583	missense				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103	57453	57453		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	14656	protein-coding gene	gene with protein product		611782			NA	11453658	Standard	NM_020693	NM_020693	NA	Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4639C>T	11.37:g.117308099G>A	ENSP00000315465:p.Leu1547Phe	NA	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	37	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742166	0.69418	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.54479	0.57;0.57	4.45	4.45	0.53987	Fibronectin, type III (4);	.	.	.	.	T	0.68659	0.3025	M	0.75447	2.3	0.58432	D	0.999995	P	0.49185	0.92	P	0.57620	0.824	T	0.71244	-0.4650	9	0.44086	T	0.13	.	17.4654	0.87631	0.0:0.0:1.0:0.0	.	1487	Q8TD84	DSCL1_HUMAN	F	1277;1547;1254	ENSP00000434335:L1277F;ENSP00000315465:L1547F	ENSP00000315465:L1547F	L	-	1	0	DSCAML1	116813309	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.211000	0.51137	2.195000	0.70347	0.655000	0.94253	CTC	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392907.2		-	ENST00000321322.6	Missense_Mutation	SNP	11 : 117308099 - 117308099 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	427	79
ABCA10	10349	broad.mit.edu	37	17	67215738	67215738	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67215738C>A	ENST00000269081.4	-	7	1387	c.478G>T	c.(478-480)Gga>Tga	p.G160*	ABCA10_ENST00000416101.2_Nonsense_Mutation_p.G160*|ABCA10_ENST00000432313.2_Nonsense_Mutation_p.G160*	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	160					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTAAATTTTCCTCTTTCCCTT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	65	63			NA	NA	17		NA											NA				67215738		2203	4298	6501	SO:0001587	stop_gained			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263	10349	10349		ATP binding cassette transporters / subfamily A	30	protein-coding gene	gene with protein product		612508			NA	12821155, 11435397	Standard	NM_080282	NM_080282	NA	Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.478G>T	17.37:g.67215738C>A	ENSP00000269081:p.Gly160*	NA	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	37	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	C	37	6.326935	0.97476	.	.	ENSG00000154263	ENST00000269081;ENST00000416101;ENST00000432313	.	.	.	3.73	0.093	0.14474	.	0.456322	0.15526	U	0.257796	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	3.9642	0.09424	0.0:0.2211:0.371:0.408	.	.	.	.	X	160	.	ENSP00000269081:G160X	G	-	1	0	ABCA10	64727333	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.482000	0.06544	-0.211000	0.10124	-1.328000	0.01277	GGA	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379881.4		-	ENST00000269081.4	Nonsense_Mutation	SNP	17 : 67215738 - 67215738 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	380	74
ACLY	47	broad.mit.edu	37	17	40062789	40062789	+	Silent	SNP	G	G	A	rs115877497	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40062789G>A	ENST00000352035.2	-	8	988	c.858C>T	c.(856-858)gtC>gtT	p.V286V	ACLY_ENST00000393896.2_Silent_p.V286V|ACLY_ENST00000590151.1_Silent_p.V286V|ACLY_ENST00000353196.1_Silent_p.V286V|ACLY_ENST00000537919.1_Intron	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	286					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				ACCTGTACACGACAGAGGCGC	0.602		NA											G	3	0.0014	0.01	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0014	1	LOWCOV,EXOME	NA	NA	7e-04	SNP	Colon(64;807 1396 15971 30971)							NA				0								G	,	39,4367	43.1+/-76.7	0,39,2164	104	96	99		858,858	-4.2	0.9	17	dbSNP_132	99	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ACLY	NM_001096.2,NM_198830.1	,	0,39,6464	AA,AG,GG	NA	0.0,0.8852,0.2999	,	286/1102,286/1092	40062789	39,12967	2203	4300	6503	SO:0001819	synonymous_variant			X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	47	47	2.3.3.8		115	protein-coding gene	gene with protein product	ATP citrate synthase	108728			NA	1371749, 8088842	Standard	NM_001096	NM_001096	NA	Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.858C>T	17.37:g.40062789G>A		NA	Q13037|Q9BRL0	37	CCDS11412.1																																																																																			ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257465.1		-	ENST00000352035.2	Silent	SNP	17 : 40062789 - 40062789 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	650	110
WIF1	11197	broad.mit.edu	37	12	65461485	65461485	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:65461485G>A	ENST00000286574.4	-	5	998	c.624C>T	c.(622-624)caC>caT	p.H208H		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	208	EGF-like 1.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CTTTCTCACAGTGAGGTCCGT	0.507		NA	T	HMGA2	pleomorphic salivary gland adenoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(148;1595 1816 48559 49439 49664)		Dom	yes		12	12q14.3	11197	WNT inhibitory factor 1		E	0													101	86	91			NA	NA	12		NA											NA				65461485		2203	4300	6503	SO:0001819	synonymous_variant			AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076	11197	11197			18081	protein-coding gene	gene with protein product		605186			NA	10201374	Standard		NM_007191	NA	Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.624C>T	12.37:g.65461485G>A		NA	Q6UXI1|Q8WVG4	37	CCDS8971.1																																																																																			WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401258.2		-	ENST00000286574.4	Silent	SNP	12 : 65461485 - 65461485 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	209	40
ZEB2	9839	broad.mit.edu	37	2	145147139	145147139	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:145147139T>C	ENST00000558170.2	-	10	4708	c.3524A>G	c.(3523-3525)gAt>gGt	p.D1175G	ZEB2_ENST00000409487.3_Missense_Mutation_p.D1175G|ZEB2_ENST00000539609.3_Missense_Mutation_p.D1151G|ZEB2_ENST00000303660.4_Missense_Mutation_p.D1175G	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1175	Glu-rich (acidic).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CGTTTCGGGATCCGTATCCAT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(33;1235 1264 5755 16332)							NA				0													245	229	234			NA	NA	2		NA											NA				145147139		2203	4300	6503	SO:0001583	missense			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554	9839	9839		Zinc fingers, C2H2-type, Homeoboxes / ZF class	14881	protein-coding gene	gene with protein product	SMAD interacting protein 1	605802	zinc finger homeobox 1b	ZFHX1B	NA		Standard	NM_014795	NM_014795	NA	Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.3524A>G	2.37:g.145147139T>C	ENSP00000454157:p.Asp1175Gly	NA	A0JP09|Q9UED1	37	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.396880	0.83120	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.15017	2.49;2.46;2.46	5.51	5.51	0.81932	.	0.091701	0.64402	D	0.000001	T	0.11367	0.0277	N	0.08118	0	0.80722	D	1	B;B;B	0.20780	0.02;0.048;0.048	B;B;B	0.19946	0.027;0.012;0.012	T	0.10800	-1.0614	10	0.87932	D	0	-15.0669	15.9314	0.79663	0.0:0.0:0.0:1.0	.	1151;1174;1175	F5H814;A0JP08;O60315	.;.;ZEB2_HUMAN	G	1151;1175;1175	ENSP00000443792:D1151G;ENSP00000302501:D1175G;ENSP00000386854:D1175G	ENSP00000302501:D1175G	D	-	2	0	ZEB2	144863609	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.217000	0.71921	0.482000	0.46254	GAT	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254778.5		-	ENST00000558170.2	Missense_Mutation	SNP	2 : 145147139 - 145147139 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1245	102
CBFA2T2	9139	broad.mit.edu	37	20	32212656	32212656	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32212656A>G	ENST00000492345.1	+	8	1404	c.719A>G	c.(718-720)cAc>cGc	p.H240R	CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.H279R|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.H269R|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.H260R|CBFA2T2_ENST00000346541.3_Missense_Mutation_p.H269R|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.H240R			O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	269						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						GCTCCTCGGCACAGTCCTGCT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(174;142 1955 14837 21276 28041)							NA				0													122	101	108			NA	NA	20		NA											NA				32212656		2203	4300	6503	SO:0001583	missense			AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699	9139	9139		Zinc fingers, MYND-type	1536	protein-coding gene	gene with protein product		603672			NA	9790752	Standard	NM_001032999	XM_006723886	NA	Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000492345.1:c.719A>G	20.37:g.32212656A>G	ENSP00000433270:p.His240Arg	NA	B2RAE6|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	37		.	.	.	.	.	.	.	.	.	.	A	15.19	2.758999	0.49468	.	.	ENSG00000078699	ENST00000397803;ENST00000375279;ENST00000342704;ENST00000346541;ENST00000397800;ENST00000359606	T;T;T;T;T	0.45668	0.89;0.9;0.89;0.9;1.49	5.83	5.83	0.93111	.	0.046008	0.85682	D	0.000000	T	0.61527	0.2354	L	0.57536	1.79	0.80722	D	1	D;D	0.67145	0.993;0.996	D;D	0.77557	0.977;0.99	T	0.61724	-0.7004	10	0.51188	T	0.08	-6.2373	16.2005	0.82071	1.0:0.0:0.0:0.0	.	269;260	O43439;F8W6D7	MTG8R_HUMAN;.	R	43;269;260;269;240;279	ENSP00000364428:H269R;ENSP00000345810:H260R;ENSP00000262653:H269R;ENSP00000380902:H240R;ENSP00000352622:H279R	ENSP00000345810:H260R	H	+	2	0	CBFA2T2	31676317	1.000000	0.71417	0.997000	0.53966	0.035000	0.12851	8.962000	0.93254	2.227000	0.72691	0.528000	0.53228	CAC	CBFA2T2-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000078709.3		+	ENST00000492345.1	Missense_Mutation	SNP	20 : 32212656 - 32212656 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	496	89
NCKAP5L	57701	broad.mit.edu	37	12	50195630	50195630	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50195630C>T	ENST00000335999.6	-	6	553		c.e6+1			NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	NA										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CAGATGCCTACCTGAGGGAGC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	139	134			NA	NA	12		NA											NA				50195630		2176	4269	6445	SO:0001630	splice_region_variant			AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566	57701	57701			29321	protein-coding gene	gene with protein product		615104	KIAA1602	KIAA1602	NA		Standard	XM_035497	NM_001037806	NA	Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.351+1G>A	12.37:g.50195630C>T		NA	Q2TB26|Q71RH1|Q8N4W1|Q96HX2	37	CCDS41781.2	.	.	.	.	.	.	.	.	.	.	C	13.25	2.180587	0.38511	.	.	ENSG00000167566	ENST00000335999;ENST00000354423	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8951	0.86098	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NCKAP5L	48481897	1.000000	0.71417	1.000000	0.80357	0.131000	0.20780	6.930000	0.75858	2.359000	0.80004	0.561000	0.74099	.	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346884.2	Intron	-	ENST00000335999.6	Splice_Site	SNP	12 : 50195630 - 50195630 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	341	56
OXNAD1	92106	broad.mit.edu	37	3	16343174	16343174	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:16343174G>A	ENST00000285083.5	+	7	939	c.474G>A	c.(472-474)gaG>gaA	p.E158E	OXNAD1_ENST00000435829.2_Silent_p.E176E|OXNAD1_ENST00000544043.1_Silent_p.E176E|OXNAD1_ENST00000606098.1_Silent_p.E158E|OXNAD1_ENST00000605932.1_Silent_p.E158E	NM_138381.3	NP_612390.1	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	158	FAD-binding FR-type.						oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						TGGGTGGAGAGTTCTTCTTTG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	83	85			NA	NA	3		NA											NA				16343174		2202	4300	6502	SO:0001819	synonymous_variant			AL832787	CCDS2630.1	3p25-p24	2010-03-19			ENSG00000154814	ENSG00000154814	92106	92106			25128	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_138381	NM_138381	NA	Approved	MGC15763	uc003caw.3	Q96HP4	OTTHUMG00000129867	ENST00000285083.5:c.474G>A	3.37:g.16343174G>A		NA	Q2HYC7|Q59FA4	37	CCDS2630.1																																																																																			OXNAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252109.1		+	ENST00000285083.5	Silent	SNP	3 : 16343174 - 16343174 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	191	31
ABCA5	23461	broad.mit.edu	37	17	67299047	67299047	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67299047C>T	ENST00000392676.3	-	8	995	c.931G>A	c.(931-933)Gta>Ata	p.V311I	ABCA5_ENST00000392677.2_Splice_Site_p.V311I|ABCA5_ENST00000588877.1_Splice_Site_p.V311I			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	311					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					GCAAAAAATACCTATAAAATA	0.274		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	16	16			NA	NA	17		NA											NA				67299047		2180	4269	6449	SO:0001630	splice_region_variant			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265	23461	23461		ATP binding cassette transporters / subfamily A	35	protein-coding gene	gene with protein product		612503			NA	8894702	Standard	NM_018672	NM_172232	NA	Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.931-1G>A	17.37:g.67299047C>T		NA	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	37	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	C	3.959	-0.010767	0.07727	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	T;T	0.80738	-1.41;-1.41	5.08	2.02	0.26589	.	0.118422	0.37304	N	0.002146	T	0.65471	0.2694	N	0.25094	0.71	0.47737	D	0.999501	B;B	0.09022	0.0;0.002	B;B	0.18561	0.003;0.022	T	0.51694	-0.8673	9	.	.	.	.	10.4211	0.44350	0.0:0.7868:0.0:0.2132	.	311;311	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	I	311	ENSP00000376444:V311I;ENSP00000376443:V311I	.	V	-	1	0	ABCA5	64810642	1.000000	0.71417	0.986000	0.45419	0.968000	0.65278	3.100000	0.50275	0.259000	0.21709	0.655000	0.94253	GTA	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450654.1	Missense_Mutation	-	ENST00000392676.3	Splice_Site	SNP	17 : 67299047 - 67299047 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	103	19
SHPRH	257218	broad.mit.edu	37	6	146214385	146214385	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146214385C>T	ENST00000367505.2	-	28	5104	c.4840G>A	c.(4840-4842)Gcc>Acc	p.A1614T	SHPRH_ENST00000275233.7_Missense_Mutation_p.A1614T|SHPRH_ENST00000438092.2_Missense_Mutation_p.A1618T|SHPRH_ENST00000367503.3_Missense_Mutation_p.A1618T			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1614	Helicase C-terminal.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTCCCTATGGCCTGAAGCTCA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	87	88			NA	NA	6		NA											NA				146214385		1858	4099	5957	SO:0001583	missense			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414	257218	257218		RING-type (C3HC4) zinc fingers	19336	protein-coding gene	gene with protein product		608048	SNF2 histone linker PHD RING helicase		NA	12837266	Standard	NM_173082	NM_001042683	NA	Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.4840G>A	6.37:g.146214385C>T	ENSP00000356475:p.Ala1614Thr	NA	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	37	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	C	35	5.550226	0.96501	.	.	ENSG00000146414	ENST00000417762;ENST00000367507;ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84	5.44	5.44	0.79542	Helicase, C-terminal (3);	0.000000	0.64402	D	0.000001	D	0.91955	0.7452	H	0.98901	4.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94992	0.8135	10	0.87932	D	0	-12.4244	19.2562	0.93947	0.0:1.0:0.0:0.0	.	1614;1618	Q149N8;Q149N8-4	SHPRH_HUMAN;.	T	36;62;1614;1618;1618;1614	ENSP00000403790:A36T;ENSP00000356475:A1614T;ENSP00000356473:A1618T;ENSP00000412797:A1618T;ENSP00000275233:A1614T	ENSP00000275233:A1614T	A	-	1	0	SHPRH	146256078	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.549000	0.85964	0.585000	0.79938	GCC	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042571.2		-	ENST00000367505.2	Missense_Mutation	SNP	6 : 146214385 - 146214385 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	282	51
ETFDH	2110	broad.mit.edu	37	4	159627858	159627858	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159627858T>G	ENST00000307738.5	+	11	1523	c.1405T>G	c.(1405-1407)Ttt>Gtt	p.F469V	ETFDH_ENST00000511912.1_Missense_Mutation_p.F516V	NM_001281737.1	NP_001268666.1	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	516					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		ACAGATCAGTTTTGACCTCTT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													198	187	191			NA	NA	4		NA											NA				159627858		2203	4300	6503	SO:0001583	missense			S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503	2110	2110			3483	protein-coding gene	gene with protein product		231675			NA		Standard		NM_004453	NA	Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000307738.5:c.1405T>G	4.37:g.159627858T>G	ENSP00000303552:p.Phe469Val	NA	Q7Z347	37		.	.	.	.	.	.	.	.	.	.	T	30	5.055411	0.93793	.	.	ENSG00000171503	ENST00000511912;ENST00000307738	D;D	0.94457	-3.43;-3.43	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.98134	0.9384	H	0.95260	3.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99437	1.0937	10	0.87932	D	0	-20.7069	16.0345	0.80612	0.0:0.0:0.0:1.0	.	469;455;516	B4E3R9;B4DEQ0;Q16134	.;.;ETFD_HUMAN	V	516;469	ENSP00000426638:F516V;ENSP00000303552:F469V	ENSP00000303552:F469V	F	+	1	0	ETFDH	159847308	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.040000	0.89188	2.183000	0.69458	0.482000	0.46254	TTT	ETFDH-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000366382.1		+	ENST00000307738.5	Missense_Mutation	SNP	4 : 159627858 - 159627858 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1055	213
NSMAF	8439	broad.mit.edu	37	8	59512420	59512420	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:59512420C>A	ENST00000038176.3	-	18	1554	c.1342G>T	c.(1342-1344)Gaa>Taa	p.E448*	NSMAF_ENST00000427130.2_Nonsense_Mutation_p.E479*	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	448	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				CCATAGAATTCTGGAATTAAC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	80	80			NA	NA	8		NA											NA				59512420		2203	4300	6503	SO:0001587	stop_gained			X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681	8439	8439		WD repeat domain containing	8017	protein-coding gene	gene with protein product		603043			NA	8808629, 10640829	Standard	NM_003580	NM_003580	NA	Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.1342G>T	8.37:g.59512420C>A	ENSP00000038176:p.Glu448*	NA	Q8IW26	37	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	C	40	8.373231	0.98781	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	.	.	.	X	448;479	.	.	E	-	1	0	NSMAF	59674974	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	7.818000	0.86416	2.894000	0.99253	0.591000	0.81541	GAA	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378384.1		-	ENST00000038176.3	Nonsense_Mutation	SNP	8 : 59512420 - 59512420 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	57
MED31	51003	broad.mit.edu	37	17	6547942	6547942	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6547942A>G	ENST00000575197.1	-	0	249				MED31_ENST00000574128.1_Missense_Mutation_p.Y7H|MED31_ENST00000225728.3_Missense_Mutation_p.Y81H			Q9Y3C7	MED31_HUMAN	mediator complex subunit 31	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			cervix(1)|endometrium(1)|large_intestine(1)	3						AAGTGTTCATATTGGAGCAGC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	97	100			NA	NA	17		NA											NA				6547942		2203	4300	6503	SO:0001624	3_prime_UTR_variant			AF151883	CCDS11078.1	17p13.1	2007-07-30	2007-07-30		ENSG00000108590	ENSG00000108590	51003	51003			24260	protein-coding gene	gene with protein product			mediator of RNA polymerase II transcription, subunit 31 homolog (S. cerevisiae)		NA	10810093	Standard	NM_016060	NM_016060	NA	Approved	CGI-125, Soh1	uc002gdg.4	Q9Y3C7	OTTHUMG00000102051	ENST00000575197.1:c.*12T>C	17.37:g.6547942A>G		NA	B2R4L9	37		.	.	.	.	.	.	.	.	.	.	A	11.94	1.789208	0.31685	.	.	ENSG00000108590	ENST00000225728	.	.	.	5.69	5.69	0.88448	.	0.109888	0.64402	D	0.000004	T	0.44286	0.1286	N	0.21617	0.685	0.80722	D	1	B	0.10296	0.003	B	0.13407	0.009	T	0.29822	-0.9999	9	0.29301	T	0.29	-9.6399	14.2142	0.65783	1.0:0.0:0.0:0.0	.	81	Q9Y3C7	MED31_HUMAN	H	81	.	ENSP00000225728:Y81H	Y	-	1	0	MED31	6488666	1.000000	0.71417	0.105000	0.21289	0.322000	0.28314	6.675000	0.74493	2.304000	0.77564	0.528000	0.53228	TAT	MED31-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000439305.1		-	ENST00000575197.1	3'UTR	SNP	17 : 6547942 - 6547942 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	385	102
ENPP6	133121	broad.mit.edu	37	4	185038975	185038975	+	Silent	SNP	C	C	T	rs74865283	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:185038975C>T	ENST00000296741.2	-	4	753	c.612G>A	c.(610-612)ccG>ccA	p.P204P		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	204					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		CTTTCCTCTGCGGAGATGCAG	0.587		NA											C	12	0.01	0.02	0.01	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0055	1	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				0								C		54,4352	53.6+/-89.4	0,54,2149	174	140	151		612	-12.1	0	4	dbSNP_132	151	2,8598	3.0+/-9.4	0,2,4298	no	coding-synonymous	ENPP6	NM_153343.3		0,56,6447	TT,TC,CC	NA	0.0233,1.2256,0.4306		204/441	185038975	56,12950	2203	4300	6503	SO:0001819	synonymous_variant			AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303	133121	133121			23409	protein-coding gene	gene with protein product					NA		Standard	NM_153343	NM_153343	NA	Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.612G>A	4.37:g.185038975C>T		NA	Q96M57	37	CCDS3834.1																																																																																			ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361428.1		-	ENST00000296741.2	Silent	SNP	4 : 185038975 - 185038975 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	449	91
USH1G	124590	broad.mit.edu	37	17	72916088	72916088	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72916088G>A	ENST00000319642.1	-	2	1025	c.843C>T	c.(841-843)gaC>gaT	p.D281D		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	281					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					GGGAGACGCTGTCCTCGTCCG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	48	44			NA	NA	17		NA											NA				72916088		2200	4296	6496	SO:0001819	synonymous_variant			AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040	124590	124590		Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	16356	protein-coding gene	gene with protein product		607696			NA	12588794	Standard	NM_173477	NM_001282489	NA	Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.843C>T	17.37:g.72916088G>A		NA	Q8N251	37	CCDS32725.1																																																																																			USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443676.1		-	ENST00000319642.1	Silent	SNP	17 : 72916088 - 72916088 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	447	18
UNC5C	8633	broad.mit.edu	37	4	96106260	96106260	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96106260G>A	ENST00000453304.1	-	13	2572	c.2224C>T	c.(2224-2226)Cgc>Tgc	p.R742C		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	742					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ATTGACAGGCGCAGGTTGTGG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	117	117			NA	NA	4		NA											NA				96106260		2203	4300	6503	SO:0001583	missense			AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168	8633	8633		Immunoglobulin superfamily / I-set domain containing	12569	protein-coding gene	gene with protein product		603610	unc5 (C.elegans homolog) c		NA	9126742, 9782087	Standard	NM_003728	NM_003728	NA	Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.2224C>T	4.37:g.96106260G>A	ENSP00000406022:p.Arg742Cys	NA	Q8IUT0	37	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132411	0.77662	.	.	ENSG00000182168	ENST00000453304;ENST00000331502	T	0.48522	0.81	5.87	5.87	0.94306	.	0.104565	0.64402	D	0.000005	T	0.62624	0.2443	L	0.39467	1.215	0.80722	D	1	P;D	0.89917	0.548;1.0	B;D	0.85130	0.036;0.997	T	0.55224	-0.8174	10	0.33141	T	0.24	.	20.2788	0.98501	0.0:0.0:1.0:0.0	.	742;742	A8K385;O95185	.;UNC5C_HUMAN	C	742;701	ENSP00000406022:R742C	ENSP00000328673:R701C	R	-	1	0	UNC5C	96325283	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.024000	0.64090	2.788000	0.95919	0.650000	0.86243	CGC	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253607.1		-	ENST00000453304.1	Missense_Mutation	SNP	4 : 96106260 - 96106260 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	719	145
KRTAP4-9	100132386	broad.mit.edu	37	17	39261692	39261692	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39261692G>T	ENST00000391415.1	+	1	109	c.52G>T	c.(52-54)Gac>Tac	p.D18Y		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18						keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						CTGCGGCCAAGACCTCTGTCA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722	100132386	100132386		Keratin associated proteins	18910	protein-coding gene	gene with protein product					NA		Standard	NM_001146041	NM_001146041	NA	Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.52G>T	17.37:g.39261692G>T	ENSP00000375234:p.Asp18Tyr	NA		37	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	6.570	0.473428	0.12521	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.32753	1.44	2.51	1.5	0.22942	.	.	.	.	.	T	0.24624	0.0597	M	0.64404	1.975	0.18873	N	0.999982	P	0.34639	0.461	B	0.26202	0.067	T	0.23332	-1.0191	9	0.72032	D	0.01	.	4.0342	0.09722	0.1555:0.2448:0.5997:0.0	.	18	Q9BYQ8	KRA49_HUMAN	Y	18	ENSP00000375234:D18Y	ENSP00000334461:D18Y	D	+	1	0	KRTAP4-9	36515218	0.000000	0.05858	0.616000	0.29078	0.307000	0.27823	0.520000	0.22878	0.163000	0.19507	0.184000	0.17185	GAC	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257688.1		+	ENST00000391415.1	Missense_Mutation	SNP	17 : 39261692 - 39261692 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	281	59
THAP2	83591	broad.mit.edu	37	12	72070775	72070775	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72070775C>T	ENST00000308086.2	+	3	2075	c.574C>T	c.(574-576)Cca>Tca	p.P192S	RP11-293I14.2_ENST00000548802.1_Intron	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated protein 2	192						nucleolus	DNA binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						ACACATGTTACCAACTGCCTT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	81	83			NA	NA	12		NA											NA				72070775		2203	4299	6502	SO:0001583	missense			BC008358	CCDS9001.1	12q21.1	2013-01-25				ENSG00000173451	83591	83591		THAP (C2CH-type zinc finger) domain containing	20854	protein-coding gene	gene with protein product		612531			NA	12575992	Standard	NM_031435	NM_031435	NA	Approved	DKFZP564I0422	uc001swq.3	Q9H0W7	OTTHUMG00000169556	ENST00000308086.2:c.574C>T	12.37:g.72070775C>T	ENSP00000310796:p.Pro192Ser	NA	B2R8P3	37	CCDS9001.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503363	0.85176	.	.	ENSG00000173451	ENST00000308086	D	0.97232	-4.3	6.04	6.04	0.98038	.	0.000000	0.44902	D	0.000415	D	0.95831	0.8643	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.93516	0.6857	10	0.12766	T	0.61	.	19.1586	0.93522	0.0:1.0:0.0:0.0	.	192	Q9H0W7	THAP2_HUMAN	S	192	ENSP00000310796:P192S	ENSP00000310796:P192S	P	+	1	0	THAP2	70357042	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	3.161000	0.50747	2.873000	0.98535	0.563000	0.77884	CCA	THAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404796.1		+	ENST00000308086.2	Missense_Mutation	SNP	12 : 72070775 - 72070775 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	57
VGLL4	9686	broad.mit.edu	37	3	11600188	11600188	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:11600188C>T	ENST00000413604.1	-	5	908	c.538G>A	c.(538-540)Gac>Aac	p.D180N	VGLL4_ENST00000404339.1_Missense_Mutation_p.D244N|VGLL4_ENST00000424529.2_Missense_Mutation_p.D155N|VGLL4_ENST00000430365.2_Missense_Mutation_p.D245N|VGLL4_ENST00000273038.3_Missense_Mutation_p.D239N|VGLL4_ENST00000451674.2_Missense_Mutation_p.D159N			Q14135	VGLL4_HUMAN	vestigial-like family member 4	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		GCAAAGTGGTCGTCCACGGAG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	85	82			NA	NA	3		NA											NA				11600188		2203	4300	6503	SO:0001583	missense			D50911	CCDS2606.1, CCDS46754.1, CCDS46755.1, CCDS46756.1, CCDS68342.1, CCDS68343.1	3p25.2	2014-03-03	2014-03-03		ENSG00000144560	ENSG00000144560	9686	9686			28966	protein-coding gene	gene with protein product			vestigial like 4 (Drosophila)		NA	8590280, 15140898	Standard	NM_014667	NM_001284390	NA	Approved	KIAA0121	uc010hdx.1	Q14135	OTTHUMG00000129739	ENST00000413604.1:c.538G>A	3.37:g.11600188C>T	ENSP00000404624:p.Asp180Asn	NA	B4DTS7|Q7L5V0|Q9BQ78	37		.	.	.	.	.	.	.	.	.	.	c	36	5.771150	0.96914	.	.	ENSG00000144560	ENST00000273038;ENST00000413604;ENST00000451674;ENST00000424529;ENST00000430365;ENST00000404339	T;T;T	0.67171	-0.25;-0.15;-0.22	5.27	5.27	0.74061	.	0.043968	0.85682	D	0.000000	D	0.82416	0.5032	M	0.75777	2.31	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.997;0.997;0.997;0.997	D	0.84493	0.0612	10	0.87932	D	0	-38.4986	18.8719	0.92319	0.0:1.0:0.0:0.0	.	245;159;155;244;239	G5E9M7;Q14135-6;Q14135-5;G5E9F4;Q14135	.;.;.;.;VGLL4_HUMAN	N	239;180;159;155;245;244	ENSP00000273038:D239N;ENSP00000404251:D245N;ENSP00000384705:D244N	ENSP00000273038:D239N	D	-	1	0	VGLL4	11575188	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.682000	0.84083	2.468000	0.83385	0.558000	0.71614	GAC	VGLL4-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000339139.2		-	ENST00000413604.1	Missense_Mutation	SNP	3 : 11600188 - 11600188 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	793	141
RAB27A	5873	broad.mit.edu	37	15	55516100	55516100	+	Missense_Mutation	SNP	C	C	T	rs104894499		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55516100C>T	ENST00000396307.2	-	5	705	c.454G>A	c.(454-456)Gca>Aca	p.A152T	RAB27A_ENST00000564609.1_Missense_Mutation_p.A152T|RAB27A_ENST00000569493.1_Missense_Mutation_p.A152T|RAB27A_ENST00000336787.1_Missense_Mutation_p.A152T	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	152			A -> P (in GS2; may affect GTP binding; interferes with melanosome transport).		small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		TATTTCTCTGCGAGTGCTATG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM001324	RAB27A	M	rs104894499						177	181	180			NA	NA	15		NA											NA				55516100		2193	4292	6485	SO:0001583	missense			U38654	CCDS10153.1	15q15-q21.1	2014-09-17			ENSG00000069974	ENSG00000069974	5873	5873		RAB, member RAS oncogene	9766	protein-coding gene	gene with protein product		603868			NA	7592656	Standard	NM_004580, NM_183236	NM_183235	NA	Approved	RAB27, RAM, GS2, HsT18676	uc002acq.3	P51159	OTTHUMG00000131959	ENST00000396307.2:c.454G>A	15.37:g.55516100C>T	ENSP00000379601:p.Ala152Thr	NA	O00195|Q6FI40|Q9UIR9|Q9Y5U3	37	CCDS10153.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933062	0.92458	.	.	ENSG00000069974	ENST00000396307;ENST00000336787	D;D	0.82167	-1.58;-1.58	5.82	5.82	0.92795	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90769	0.7102	M	0.83852	2.665	0.80722	D	1	D	0.69078	0.997	P	0.59115	0.852	D	0.91633	0.5320	10	0.87932	D	0	-12.6781	18.6655	0.91488	0.0:1.0:0.0:0.0	.	152	P51159	RB27A_HUMAN	T	152	ENSP00000379601:A152T;ENSP00000337761:A152T	ENSP00000337761:A152T	A	-	1	0	RAB27A	53303392	1.000000	0.71417	0.993000	0.49108	0.428000	0.31595	7.532000	0.81985	2.746000	0.94184	0.555000	0.69702	GCA	RAB27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254918.1		-	ENST00000396307.2	Missense_Mutation	SNP	15 : 55516100 - 55516100 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1465	252
RRM2B	50484	broad.mit.edu	37	8	103231160	103231160	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103231160G>A	ENST00000251810.3	-	6	809	c.566C>T	c.(565-567)gCc>gTc	p.A189V	RRM2B_ENST00000519317.1_Intron|RRM2B_ENST00000519962.1_Intron|RRM2B_ENST00000395912.2_Missense_Mutation_p.A137V	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	189					deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)			AGCAGCAAAGGCCACCACTCT	0.353		NA						Modulation of nucleotide pools						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	117	114			NA	NA	8		NA											NA				103231160		2203	4300	6503	SO:0001583	missense			AB036532	CCDS34932.1, CCDS55267.1	8q23.1	2014-09-17			ENSG00000048392	ENSG00000048392	50484	50484			17296	protein-coding gene	gene with protein product		604712			NA	10716435, 10980602, 17486094	Standard		NM_015713	NA	Approved	p53R2	uc022azl.1	Q7LG56	OTTHUMG00000164776	ENST00000251810.3:c.566C>T	8.37:g.103231160G>A	ENSP00000251810:p.Ala189Val	NA	Q17R22|Q75PQ6|Q75PQ7|Q75PY8|Q75PY9|Q86YE3|Q9NPD6|Q9NTD8|Q9NUW3	37	CCDS34932.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098649	0.94197	.	.	ENSG00000048392	ENST00000251810;ENST00000535248;ENST00000395912	D;D	0.97791	-4.54;-4.54	5.37	5.37	0.77165	Ferritin/ribonucleotide reductase-like (1);Ribonucleotide reductase-related (1);	0.099527	0.64402	D	0.000002	D	0.99260	0.9742	H	0.98256	4.185	0.80722	D	1	D;D	0.69078	0.991;0.997	P;D	0.65443	0.776;0.935	D	0.98766	1.0726	10	0.87932	D	0	.	19.1474	0.93473	0.0:0.0:1.0:0.0	.	137;189	Q7LG56-2;Q7LG56	.;RIR2B_HUMAN	V	189;135;137	ENSP00000251810:A189V;ENSP00000379248:A137V	ENSP00000251810:A189V	A	-	2	0	RRM2B	103300336	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.804000	0.99143	2.511000	0.84671	0.650000	0.86243	GCC	RRM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380191.3		-	ENST00000251810.3	Missense_Mutation	SNP	8 : 103231160 - 103231160 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	762	152
ME1	4199	broad.mit.edu	37	6	83937191	83937191	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83937191C>T	ENST00000369705.3	-	11	1254	c.1138G>A	c.(1138-1140)Gct>Act	p.A380T	ME1_ENST00000541327.1_Missense_Mutation_p.A214T|ME1_ENST00000543031.1_Missense_Mutation_p.A305T	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	380					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	CCAATTGCAGCAACTCCTAAT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	97	98			NA	NA	6		NA											NA				83937191		2203	4300	6503	SO:0001583	missense			X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	4199	4199	1.1.1.40		6983	protein-coding gene	gene with protein product		154250			NA	8187880	Standard		NM_002395	NA	Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.1138G>A	6.37:g.83937191C>T	ENSP00000358719:p.Ala380Thr	NA	Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	37	CCDS34492.1	.	.	.	.	.	.	.	.	.	.	C	32	5.107717	0.94292	.	.	ENSG00000065833	ENST00000369705;ENST00000540036;ENST00000541327;ENST00000543031	T;T;T	0.29142	1.58;1.58;1.58	5.87	5.87	0.94306	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.30572	0.0769	L	0.55990	1.75	0.80722	D	1	D	0.54207	0.965	P	0.46629	0.522	T	0.05550	-1.0878	10	0.62326	D	0.03	-22.7069	20.1944	0.98239	0.0:1.0:0.0:0.0	.	380	P48163	MAOX_HUMAN	T	380;40;214;305	ENSP00000358719:A380T;ENSP00000439912:A214T;ENSP00000446114:A305T	ENSP00000358719:A380T	A	-	1	0	ME1	83993910	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.628000	0.83189	2.777000	0.95525	0.555000	0.69702	GCT	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041350.1		-	ENST00000369705.3	Missense_Mutation	SNP	6 : 83937191 - 83937191 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	499	64
PCBP3	54039	broad.mit.edu	37	21	47337513	47337513	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47337513C>T	ENST00000400314.1	+	11	1025	c.687C>T	c.(685-687)atC>atT	p.I229I	PCBP3_ENST00000400309.1_Silent_p.I229I|PCBP3_ENST00000449640.1_Silent_p.I229I|PCBP3_ENST00000400310.1_Silent_p.I229I|PCBP3_ENST00000400304.1_Silent_p.I220I|PCBP3_ENST00000400308.1_Silent_p.I204I			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	229					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CCTACACAATCCAGGGACAGT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													217	236	230			NA	NA	21		NA											NA				47337513		2088	4215	6303	SO:0001819	synonymous_variant			AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570	54039	54039			8651	protein-coding gene	gene with protein product		608502	poly(rC)-binding protein 3		NA	10936052	Standard		NM_020528	NA	Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.687C>T	21.37:g.47337513C>T		NA	A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	37	CCDS42974.2																																																																																			PCBP3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206808.2		+	ENST00000400314.1	Silent	SNP	21 : 47337513 - 47337513 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	553	109
NCAM1	4684	broad.mit.edu	37	11	113075180	113075180	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113075180C>T	ENST00000533760.1	+	0	545				NCAM1_ENST00000316851.7_Silent_p.G90G|NCAM1_ENST00000401611.2_Silent_p.G99G|NCAM1_ENST00000397957.4_3'UTR	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	NA					axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TGGTTACAGGCGAGGATGGCA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	85	84			NA	NA	11		NA											NA				113075180		2136	4229	6365	SO:0001623	5_prime_UTR_variant				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294	4684	4684		CD molecules, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	7656	protein-coding gene	gene with protein product		116930			NA		Standard	NM_000615	NM_000615	NA	Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.-55C>T	11.37:g.113075180C>T		NA	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	37																																																																																				NCAM1-003	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000394068.2		+	ENST00000533760.1	5'UTR	SNP	11 : 113075180 - 113075180 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	213	49
RHOH	399	broad.mit.edu	37	4	40245403	40245403	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40245403G>T	ENST00000381799.5	+	3	1121	c.397G>T	c.(397-399)Gcc>Tcc	p.A133S	RHOH_ENST00000505618.1_Missense_Mutation_p.A133S	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	NA					negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						CTGCGTCAATGCCATGGAAGG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	54	54			NA	NA	4		NA											NA				40245403		2203	4300	6503	SO:0001583	missense			Z35227	CCDS3458.1	4p13	2014-09-17	2012-02-27	2004-03-24	ENSG00000168421	ENSG00000168421	399	399			686	protein-coding gene	gene with protein product		602037	ras homolog gene family, member H	ARHH	NA	7784061	Standard	NM_004310	NM_001278359	NA	Approved	RhoH, TTF	uc003guz.2	Q15669	OTTHUMG00000099373	ENST00000381799.5:c.397G>T	4.37:g.40245403G>T	ENSP00000371219:p.Ala133Ser	NA		37	CCDS3458.1	.	.	.	.	.	.	.	.	.	.	g	4.166	0.029282	0.08054	.	.	ENSG00000168421	ENST00000505618;ENST00000381799	T;T	0.76839	-1.05;-1.05	5.92	4.0	0.46444	Small GTP-binding protein domain (1);	0.326387	0.33346	N	0.005007	T	0.54565	0.1866	N	0.05230	-0.09	0.28632	N	0.907628	B	0.02656	0.0	B	0.08055	0.003	T	0.44498	-0.9324	10	0.33940	T	0.23	.	8.8676	0.35296	0.0:0.2369:0.4532:0.3098	.	133	Q15669	RHOH_HUMAN	S	133	ENSP00000425010:A133S;ENSP00000371219:A133S	ENSP00000371219:A133S	A	+	1	0	RHOH	39921798	0.604000	0.26932	0.978000	0.43139	0.164000	0.22412	-0.014000	0.12656	2.810000	0.96702	0.585000	0.79938	GCC	RHOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216820.3		+	ENST00000381799.5	Missense_Mutation	SNP	4 : 40245403 - 40245403 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	380	61
ACOXL	55289	broad.mit.edu	37	2	111559251	111559251	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:111559251G>A	ENST00000389811.4	+	8	794	c.570G>A	c.(568-570)ggG>ggA	p.G190G	ACOXL_ENST00000340561.4_Silent_p.G190G|ACOXL_ENST00000439055.1_Silent_p.G190G			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	190					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						TGGACAATGGGATATTAATAT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	136	140			NA	NA	2		NA											NA				111559251		2203	4300	6503	SO:0001819	synonymous_variant				CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093	55289	55289			25621	protein-coding gene	gene with protein product			acyl-Coenzyme A oxidase-like		NA		Standard	NM_018308	NM_001142807	NA	Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.570G>A	2.37:g.111559251G>A		NA	A2RRB7|B7WPB3|B7WPP7|Q53R27|Q53R31|Q53SC6|Q8TCE7	37																																																																																				ACOXL-001	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000254024.2		+	ENST00000389811.4	Silent	SNP	2 : 111559251 - 111559251 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	454	101
ST8SIA1	6489	broad.mit.edu	37	12	22487118	22487118	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:22487118C>T	ENST00000404299.3	-	1	516	c.49G>A	c.(49-51)Gct>Act	p.A17T	ST8SIA1_ENST00000536558.1_Intron|ST8SIA1_ENST00000396037.4_Missense_Mutation_p.A17T|ST8SIA1_ENST00000381424.3_Missense_Mutation_p.A17T|ST8SIA1_ENST00000539510.1_5'UTR			Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	17					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						GCCAGTACAGCCATGGCCCCT	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	56	56			NA	NA	12		NA											NA				22487118		2203	4300	6503	SO:0001583	missense			L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	6489	6489	2.4.99.8	Sialyltransferases	10869	protein-coding gene	gene with protein product	ST8Sia I	601123	sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A	SIAT8, SIAT8A	NA	7901202	Standard	NM_003034	NM_003034	NA	Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000404299.3:c.49G>A	12.37:g.22487118C>T	ENSP00000384467:p.Ala17Thr	NA	A8K4H6|Q17RL0|Q93064	37		.	.	.	.	.	.	.	.	.	.	C	17.15	3.315728	0.60524	.	.	ENSG00000111728	ENST00000396037;ENST00000404299;ENST00000381424	T	0.27256	1.68	4.39	4.39	0.52855	.	0.168872	0.41097	D	0.000955	T	0.28101	0.0693	L	0.44542	1.39	0.80722	D	1	P	0.51791	0.948	P	0.45610	0.487	T	0.07501	-1.0769	10	0.87932	D	0	-12.5297	14.6168	0.68556	0.0:1.0:0.0:0.0	.	17	Q92185	SIA8A_HUMAN	T	17	ENSP00000379353:A17T	ENSP00000261197:A17T	A	-	1	0	ST8SIA1	22378385	1.000000	0.71417	0.998000	0.56505	0.904000	0.53231	2.223000	0.42936	2.397000	0.81536	0.655000	0.94253	GCT	ST8SIA1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000402252.1		-	ENST00000404299.3	Missense_Mutation	SNP	12 : 22487118 - 22487118 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	557	111
COL6A1	1291	broad.mit.edu	37	21	47410314	47410314	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47410314T>C	ENST00000361866.3	+	13	1094	c.980T>C	c.(979-981)aTc>aCc	p.I327T		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	327	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	AAGCGTGGCATCGACGGGGTG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	36	38			NA	NA	21		NA											NA				47410314		2201	4299	6500	SO:0001583	missense			M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156	1291	1291		Collagens	2211	protein-coding gene	gene with protein product		120220			NA		Standard	NM_001848	XM_006723964	NA	Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.980T>C	21.37:g.47410314T>C	ENSP00000355180:p.Ile327Thr	NA	O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	37	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	T	12.66	2.003781	0.35320	.	.	ENSG00000142156	ENST00000361866;ENST00000538397	D	0.93133	-3.17	4.79	4.79	0.61399	.	0.462231	0.20711	N	0.087098	D	0.92064	0.7485	L	0.33668	1.02	0.23636	N	0.997236	D	0.63880	0.993	P	0.57620	0.824	D	0.83907	0.0293	10	0.11182	T	0.66	-14.5701	13.5188	0.61555	0.0:0.0:0.0:1.0	.	327	P12109	CO6A1_HUMAN	T	327	ENSP00000355180:I327T	ENSP00000355180:I327T	I	+	2	0	COL6A1	46234742	0.853000	0.29707	0.835000	0.33067	0.796000	0.44982	2.119000	0.41958	1.791000	0.52520	0.533000	0.62120	ATC	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206877.1		+	ENST00000361866.3	Missense_Mutation	SNP	21 : 47410314 - 47410314 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	64
ZNF124	7678	broad.mit.edu	37	1	247320502	247320502	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247320502T>G	ENST00000340684.6	-	4	374	c.236A>C	c.(235-237)cAg>cCg	p.Q79P	ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000491848.1_5'UTR|ZNF124_ENST00000543802.2_Missense_Mutation_p.Q141P	NM_003431.2	NP_003422.2	Q15973	ZN124_HUMAN	zinc finger protein 124	141	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			GTGATTTCTCTGATGTATCTG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	43	42			NA	NA	1		NA											NA				247320502		2203	4300	6503	SO:0001583	missense			S54641	CCDS31089.1, CCDS58067.1, CCDS73057.1	1q44	2013-01-08	2006-06-13		ENSG00000196418	ENSG00000196418	7678	7678		Zinc fingers, C2H2-type, -	12907	protein-coding gene	gene with protein product		194631	zinc finger protein 124 (HZF-16)		NA	7916577	Standard	NM_003431	XM_005273256	NA	Approved	HZF16, HZF-16	uc001icj.1	Q15973	OTTHUMG00000041112	ENST00000340684.6:c.236A>C	1.37:g.247320502T>G	ENSP00000340749:p.Gln79Pro	NA	B3KNP3|Q15974|Q4VAJ7|Q5T2V4	37	CCDS31089.1	.	.	.	.	.	.	.	.	.	.	T	8.726	0.915547	0.17907	.	.	ENSG00000196418	ENST00000366499;ENST00000340684;ENST00000543802;ENST00000540601	T	0.18810	2.19	0.729	0.729	0.18266	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35189	0.0923	M	0.81112	2.525	0.20307	N	0.999911	D;P	0.57899	0.981;0.514	P;B	0.54924	0.764;0.03	T	0.13764	-1.0497	9	0.72032	D	0.01	.	5.6554	0.17640	0.0:0.0:0.0:1.0	.	141;79	Q15973;Q15973-4	ZN124_HUMAN;.	P	102;79;85;85	ENSP00000340749:Q79P	ENSP00000340749:Q79P	Q	-	2	0	ZNF124	245387125	0.064000	0.20934	0.009000	0.14445	0.546000	0.35178	0.514000	0.22786	0.553000	0.29044	0.260000	0.18958	CAG	ZNF124-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000098573.2		-	ENST00000340684.6	Missense_Mutation	SNP	1 : 247320502 - 247320502 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	321	99
ZNF267	10308	broad.mit.edu	37	16	31926727	31926727	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31926727G>A	ENST00000300870.10	+	4	1366	c.1157G>A	c.(1156-1158)aGc>aAc	p.S386N		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	386					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAAGCATGTAGCAAATCTTTT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	79	76			NA	NA	16		NA											NA				31926727		2197	4300	6497	SO:0001583	missense			X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947	10308	10308		Zinc fingers, C2H2-type, -	13060	protein-coding gene	gene with protein product		604752			NA	7865130	Standard	NM_003414	NM_003414	NA	Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.1157G>A	16.37:g.31926727G>A	ENSP00000300870:p.Ser386Asn	NA	A0JNZ9|Q8NE41|Q9NRJ0	37	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	8.336	0.827568	0.16749	.	.	ENSG00000185947	ENST00000300870	T	0.15017	2.46	0.458	0.458	0.16670	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08447	0.0210	N	0.20845	0.615	0.80722	D	1	B	0.31931	0.347	B	0.17722	0.019	T	0.21109	-1.0255	9	0.72032	D	0.01	.	6.6931	0.23183	1.0E-4:0.0:0.9999:0.0	.	386	Q14586	ZN267_HUMAN	N	386	ENSP00000300870:S386N	ENSP00000300870:S386N	S	+	2	0	ZNF267	31834228	0.989000	0.36119	0.055000	0.19348	0.050000	0.14768	0.778000	0.26732	0.482000	0.27582	0.484000	0.47621	AGC	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432446.2		+	ENST00000300870.10	Missense_Mutation	SNP	16 : 31926727 - 31926727 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	506	116
MALSU1	115416	broad.mit.edu	37	7	23349053	23349053	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23349053A>G	ENST00000466681.1	+	4	749	c.596A>G	c.(595-597)tAt>tGt	p.Y199C		NM_138446.1	NP_612455.1	Q96EH3	CG030_HUMAN	mitochondrial assembly of ribosomal large subunit 1	199						mitochondrion					NA						CTACGTTCTTATGATGACCAG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	131	134			NA	NA	7		NA											NA				23349053		2203	4300	6503	SO:0001583	missense			BC012331	CCDS5381.1	7p15.3	2013-05-24	2012-02-20	2012-02-20	ENSG00000156928	ENSG00000156928	115416	115416			21721	protein-coding gene	gene with protein product		614624	chromosome 7 open reading frame 30	C7orf30	NA	22238376, 22238375	Standard	NM_138446	NM_138446	NA	Approved	mtRsfA	uc003swd.1	Q96EH3	OTTHUMG00000128443	ENST00000466681.1:c.596A>G	7.37:g.23349053A>G	ENSP00000419370:p.Tyr199Cys	NA		37	CCDS5381.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.785426	0.49997	.	.	ENSG00000156928	ENST00000466681	.	.	.	5.61	3.15	0.36227	.	0.098520	0.44285	D	0.000463	T	0.37320	0.0999	L	0.38838	1.175	0.38041	D	0.935454	B	0.30021	0.265	B	0.24394	0.053	T	0.33650	-0.9860	9	0.49607	T	0.09	-19.7612	7.5319	0.27687	0.8005:0.0:0.0702:0.1293	.	199	Q96EH3	CG030_HUMAN	C	199	.	ENSP00000419370:Y199C	Y	+	2	0	C7orf30	23315578	0.953000	0.32496	0.973000	0.42090	0.977000	0.68977	2.656000	0.46716	0.916000	0.36871	0.482000	0.46254	TAT	MALSU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250241.2		+	ENST00000466681.1	Missense_Mutation	SNP	7 : 23349053 - 23349053 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	522	93
RIMS4	140730	broad.mit.edu	37	20	43386371	43386371	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43386371C>T	ENST00000372851.3	-	4	457	c.391G>A	c.(391-393)Gag>Aag	p.E131K	RIMS4_ENST00000541604.2_Missense_Mutation_p.E132K	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	131	C2.				exocytosis|neurotransmitter transport	cell junction|synapse				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				ATGTCCACCTCCAACTGACCG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	106	114			NA	NA	20		NA											NA				43386371		2203	4300	6503	SO:0001583	missense				CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098	140730	140730			16183	protein-coding gene	gene with protein product		611601	chromosome 20 open reading frame 190	C20orf190	NA	12620390	Standard	NM_182970	NM_182970	NA	Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546	ENST00000372851.3:c.391G>A	20.37:g.43386371C>T	ENSP00000361942:p.Glu131Lys	NA	Q3MI44|Q5JWT7	37	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	C	36	5.779694	0.96929	.	.	ENSG00000101098	ENST00000372851;ENST00000541604	T;T	0.68765	-0.35;-0.35	5.76	5.76	0.90799	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.81307	0.4795	M	0.69358	2.11	0.80722	D	1	D;D	0.76494	0.99;0.999	D;D	0.69307	0.919;0.963	T	0.82100	-0.0624	10	0.87932	D	0	.	19.9738	0.97296	0.0:1.0:0.0:0.0	.	132;131	E1P613;Q9H426	.;RIMS4_HUMAN	K	131;132	ENSP00000361942:E131K;ENSP00000439287:E132K	ENSP00000361942:E131K	E	-	1	0	RIMS4	42819785	1.000000	0.71417	0.968000	0.41197	0.912000	0.54170	7.818000	0.86416	2.732000	0.93576	0.655000	0.94253	GAG	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000101027.2		-	ENST00000372851.3	Missense_Mutation	SNP	20 : 43386371 - 43386371 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	660	106
GANC	2595	broad.mit.edu	37	15	42631902	42631902	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42631902G>A	ENST00000318010.8	+	17	2119	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	627					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		TCCAGAGACAGAGCTGCTAGT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	93	93			NA	NA	15		NA											NA				42631902		2203	4299	6502	SO:0001583	missense			AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	2595	2595	3.2.1.20		4139	protein-coding gene	gene with protein product		104180			NA	6995030, 12370436	Standard	NM_198141	NM_198141	NA	Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.1879G>A	15.37:g.42631902G>A	ENSP00000326227:p.Glu627Lys	NA	Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	37	CCDS10084.1	.	.	.	.	.	.	.	.	.	.	G	36	5.972882	0.97162	.	.	ENSG00000214013	ENST00000318010	D	0.95205	-3.64	6.03	6.03	0.97812	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97974	0.9333	M	0.91920	3.255	0.80722	D	1	D	0.65815	0.995	D	0.70016	0.967	D	0.98113	1.0421	10	0.87932	D	0	-20.7149	20.5568	0.99304	0.0:0.0:1.0:0.0	.	627	Q8TET4	GANC_HUMAN	K	627	ENSP00000326227:E627K	ENSP00000326227:E627K	E	+	1	0	GANC	40419194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	GAG	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252887.2		+	ENST00000318010.8	Missense_Mutation	SNP	15 : 42631902 - 42631902 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	618	122
RPAP2	79871	broad.mit.edu	37	1	92801960	92801960	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92801960T>G	ENST00000610020.1	+	10	1704	c.1595T>G	c.(1594-1596)cTt>cGt	p.L532R		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	NA						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		TACACACAACTTAAAAATCTT	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	79	77			NA	NA	1		NA											NA				92801960		2203	4298	6501	SO:0001583	missense			AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484	79871	79871			25791	protein-coding gene	gene with protein product		611476	chromosome 1 open reading frame 82	C1orf82	NA	17643375	Standard	NM_024813	NM_024813	NA	Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.1595T>G	1.37:g.92801960T>G	ENSP00000476948:p.Leu532Arg	NA	Q49AS7|Q9H8Y2	37	CCDS740.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.092447	0.76756	.	.	ENSG00000122484	ENST00000370343;ENST00000394482	.	.	.	5.74	5.74	0.90152	.	0.189633	0.47455	D	0.000223	T	0.72293	0.3442	M	0.76002	2.32	0.36136	D	0.846485	D	0.89917	1.0	D	0.71184	0.972	T	0.78411	-0.2214	8	0.87932	D	0	-15.3528	13.4234	0.61011	0.0:0.0:0.0:1.0	.	532	Q8IXW5	RPAP2_HUMAN	R	532	.	ENSP00000359368:L532R	L	+	2	0	RPAP2	92574548	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.777000	0.62361	2.197000	0.70478	0.528000	0.53228	CTT	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000028368.2		+	ENST00000610020.1	Missense_Mutation	SNP	1 : 92801960 - 92801960 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	381	34
MYO1D	4642	broad.mit.edu	37	17	30980908	30980908	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30980908G>A	ENST00000394649.4	-	21	2827	c.2284C>T	c.(2284-2286)Cgg>Tgg	p.R762W	MYO1D_ENST00000579584.1_Missense_Mutation_p.R850W|MYO1D_ENST00000318217.5_Missense_Mutation_p.R850W|RP11-220C2.1_ENST00000582272.1_RNA			O94832	MYO1D_HUMAN	myosin ID	850						myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TTGTCCTTCCGTTTCAATTCA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	106	115			NA	NA	17		NA											NA				30980908		2203	4300	6503	SO:0001583	missense			AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658	4642	4642		Myosins / Myosin superfamily : Class I	7598	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 108	606539			NA	8884266	Standard		NM_015194	NA	Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000394649.4:c.2284C>T	17.37:g.30980908G>A	ENSP00000464741:p.Arg762Trp	NA	A6H8V3|Q8NHP9	37		.	.	.	.	.	.	.	.	.	.	G	20.6	4.010813	0.75046	.	.	ENSG00000176658	ENST00000318217;ENST00000394649	D	0.87650	-2.28	5.89	4.9	0.64082	Myosin tail 2 (1);	0.000000	0.36740	U	0.002433	D	0.90089	0.6904	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.68765	0.96;0.932	D	0.90562	0.4516	10	0.72032	D	0.01	.	11.8626	0.52476	0.0:0.0:0.6823:0.3176	.	761;850	Q7Z3N6;O94832	.;MYO1D_HUMAN	W	850;42	ENSP00000324527:R850W	ENSP00000324527:R850W	R	-	1	2	MYO1D	28005021	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.298000	0.43602	1.454000	0.47793	0.591000	0.81541	CGG	MYO1D-004	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000447459.2		-	ENST00000394649.4	Missense_Mutation	SNP	17 : 30980908 - 30980908 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	198	43
PENK	5179	broad.mit.edu	37	8	57354416	57354416	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:57354416T>G	ENST00000314922.3	-	2	295	c.219A>C	c.(217-219)aaA>aaC	p.K73N	PENK_ENST00000451791.2_Missense_Mutation_p.K73N|PENK_ENST00000523274.1_5'UTR	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	73					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			GAAGCTCTGGTTTGGACAGCT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	96	94			NA	NA	8		NA											NA				57354416		2203	4300	6503	SO:0001583	missense				CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195	5179	5179		Endogenous ligands	8831	protein-coding gene	gene with protein product	preproenkephalin	131330			NA	6281660	Standard		NM_006211	NA	Approved		uc003xsz.2	P01210		ENST00000314922.3:c.219A>C	8.37:g.57354416T>G	ENSP00000324248:p.Lys73Asn	NA	B2RC23|Q6FHC6|Q6FHE6	37	CCDS6168.1	.	.	.	.	.	.	.	.	.	.	T	11.49	1.653120	0.29425	.	.	ENSG00000181195	ENST00000539312;ENST00000314922;ENST00000451791;ENST00000518974	T;T;T	0.74737	-0.87;-0.87;0.86	5.94	-9.73	0.00512	.	0.438594	0.27627	N	0.018537	T	0.46367	0.1389	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.11329	0.006	T	0.11179	-1.0598	10	0.46703	T	0.11	-6.257	13.5097	0.61504	0.076:0.6291:0.0:0.2949	.	73	P01210	PENK_HUMAN	N	73	ENSP00000324248:K73N;ENSP00000400894:K73N;ENSP00000428012:K73N	ENSP00000324248:K73N	K	-	3	2	PENK	57516970	0.025000	0.19082	0.000000	0.03702	0.735000	0.41995	-0.852000	0.04308	-2.039000	0.00917	0.459000	0.35465	AAA	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378645.1		-	ENST00000314922.3	Missense_Mutation	SNP	8 : 57354416 - 57354416 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	702	133
MAPK11	5600	broad.mit.edu	37	22	50705581	50705581	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50705581G>T	ENST00000330651.6	-	6	570	c.470C>A	c.(469-471)gCt>gAt	p.A157D	MAPK11_ENST00000495277.1_5'UTR|MAPK11_ENST00000449719.2_Missense_Mutation_p.A49D	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	157	Protein kinase.				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|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	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTCGTTCACAGCCACGTTGCT	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(9;634 739 50668)							NA				0													35	34	35			NA	NA	22		NA											NA				50705581		2200	4296	6496	SO:0001583	missense			Y14440	CCDS14090.1	22q13.33	2011-06-09			ENSG00000185386	ENSG00000185386	5600	5600	2.7.11.1	Mitogen-activated protein kinase cascade / Kinases	6873	protein-coding gene	gene with protein product		602898		PRKM11	NA	9218798	Standard		NM_002751	NA	Approved	p38-2, p38Beta, SAPK2	uc003bkr.3	Q15759	OTTHUMG00000150226	ENST00000330651.6:c.470C>A	22.37:g.50705581G>T	ENSP00000333685:p.Ala157Asp	NA	B0LPG1|O00284|O15472|Q2XNF2	37	CCDS14090.1	.	.	.	.	.	.	.	.	.	.	g	32	5.128724	0.94473	.	.	ENSG00000185386	ENST00000330651;ENST00000449719	T;T	0.65364	-0.15;-0.15	4.84	3.8	0.43715	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	U	0.000000	T	0.65015	0.2651	N	0.17082	0.46	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.988;0.999	T	0.70015	-0.4988	10	0.72032	D	0.01	-12.0188	13.5162	0.61541	0.0:0.0:0.8421:0.1579	.	49;157	B7Z630;Q15759	.;MK11_HUMAN	D	157;49	ENSP00000333685:A157D;ENSP00000406921:A49D	ENSP00000333685:A157D	A	-	2	0	MAPK11	49047708	1.000000	0.71417	0.829000	0.32907	0.990000	0.78478	7.347000	0.79356	1.160000	0.42584	0.537000	0.68136	GCT	MAPK11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316900.1		-	ENST00000330651.6	Missense_Mutation	SNP	22 : 50705581 - 50705581 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	144	26
LRRC7	57554	broad.mit.edu	37	1	70486761	70486761	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70486761C>T	ENST00000310961.5	+	17	1813	c.1395C>T	c.(1393-1395)gcC>gcT	p.A465A	RP11-181B18.1_ENST00000414132.1_RNA|RP11-181B18.1_ENST00000425754.1_RNA|LRRC7_ENST00000035383.5_Silent_p.A460A|LRRC7_ENST00000415775.2_5'UTR			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	460						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TGACTGTTGCCTTTGAATTTG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	82	83			NA	NA	1		NA											NA				70486761		2203	4300	6503	SO:0001819	synonymous_variant				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122	57554	57554			18531	protein-coding gene	gene with protein product		614453			NA	12525888	Standard	NM_020794	NM_020794	NA	Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000310961.5:c.1395C>T	1.37:g.70486761C>T		NA	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	37																																																																																				LRRC7-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000131262.2		+	ENST00000310961.5	Silent	SNP	1 : 70486761 - 70486761 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	160	42
FBN3	84467	broad.mit.edu	37	19	8209804	8209804	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8209804G>A	ENST00000600128.1	-	6	912	c.498C>T	c.(496-498)cgC>cgT	p.R166R	FBN3_ENST00000270509.2_Silent_p.R166R|FBN3_ENST00000601739.1_Silent_p.R166R			Q75N90	FBN3_HUMAN	fibrillin 3	166	EGF-like 1.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CACAGGCGCAGCGGTTGGGCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	40	44			NA	NA	19		NA											NA				8209804		2202	4300	6502	SO:0001819	synonymous_variant				CCDS12196.1	19p13	2008-02-05					84467	84467			18794	protein-coding gene	gene with protein product		608529			NA		Standard	NM_032447	NM_032447	NA	Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.498C>T	19.37:g.8209804G>A		NA	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	37	CCDS12196.1																																																																																			FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461428.2		-	ENST00000600128.1	Silent	SNP	19 : 8209804 - 8209804 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	92	20
DDX54	79039	broad.mit.edu	37	12	113603721	113603721	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113603721C>T	ENST00000314045.7	-	13	1558	c.1531G>A	c.(1531-1533)Gtt>Att	p.V511I	DDX54_ENST00000306014.5_Missense_Mutation_p.V511I	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	511					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTATCAGCAACGCGGGCCAGG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	58	59			NA	NA	12		NA											NA				113603721		2203	4300	6503	SO:0001583	missense			AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064	79039	79039		DEAD-boxes	20084	protein-coding gene	gene with protein product		611665			NA	12466272	Standard	NM_024072	NM_001111322	NA	Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000314045.7:c.1531G>A	12.37:g.113603721C>T	ENSP00000323858:p.Val511Ile	NA	Q86YT8|Q9BRZ1	37	CCDS44984.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895350	0.33442	.	.	ENSG00000123064	ENST00000314045;ENST00000306014	T;T	0.14144	2.53;2.53	4.69	3.8	0.43715	.	0.000000	0.85682	D	0.000000	T	0.18759	0.0450	M	0.80028	2.48	0.53005	D	0.999967	P;P	0.45283	0.855;0.773	B;B	0.38020	0.263;0.135	T	0.08166	-1.0735	10	0.54805	T	0.06	.	12.58	0.56386	0.0:0.9185:0.0:0.0815	.	511;511	Q8TDD1-2;Q8TDD1	.;DDX54_HUMAN	I	511	ENSP00000323858:V511I;ENSP00000304072:V511I	ENSP00000304072:V511I	V	-	1	0	DDX54	112088104	0.990000	0.36364	0.246000	0.24233	0.002000	0.02628	2.884000	0.48562	1.188000	0.43014	0.655000	0.94253	GTT	DDX54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405374.2		-	ENST00000314045.7	Missense_Mutation	SNP	12 : 113603721 - 113603721 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	441	108
TRPM1	4308	broad.mit.edu	37	15	31318444	31318444	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31318444C>A	ENST00000397795.2	-	26	3574	c.3461G>T	c.(3460-3462)aGg>aTg	p.R1154M	TRPM1_ENST00000542188.1_Missense_Mutation_p.R1193M|RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000256552.6_Missense_Mutation_p.R1176M	NM_002420.5	NP_002411.3	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1154					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTCATGCAGCCTCTTTAGCTC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	56	55			NA	NA	15		NA											NA				31318444		2090	4219	6309	SO:0001583	missense			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160	4308	4308		Voltage-gated ion channels / Transient receptor potential cation channels	7146	protein-coding gene	gene with protein product		603576	melastatin 1	MLSN1	NA	9806836, 9537257, 16382100	Standard	NM_002420	NM_001252020	NA	Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000397795.2:c.3461G>T	15.37:g.31318444C>A	ENSP00000380897:p.Arg1154Met	NA	O75560|Q7Z4N1|Q7Z4N3|Q7Z4N4|Q7Z4N5	37	CCDS10024.2	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082368	0.36758	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.12774	2.65;2.65;2.65	5.5	2.09	0.27110	.	0.280157	0.43260	D	0.000597	T	0.08670	0.0215	N	0.25992	0.78	0.20975	N	0.999819	B;B	0.22851	0.076;0.01	B;B	0.21917	0.037;0.011	T	0.23940	-1.0174	10	0.87932	D	0	-29.4723	5.458	0.16602	0.0:0.4423:0.0:0.5577	.	1148;1154	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	M	1154;1193;1176;1154	ENSP00000380897:R1154M;ENSP00000437849:R1193M;ENSP00000256552:R1176M	ENSP00000256552:R1176M	R	-	2	0	TRPM1	29105736	0.276000	0.24211	0.847000	0.33407	0.717000	0.41224	0.641000	0.24720	0.785000	0.33685	-0.194000	0.12790	AGG	TRPM1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251378.1		-	ENST00000397795.2	Missense_Mutation	SNP	15 : 31318444 - 31318444 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	197	42
CDH26	60437	broad.mit.edu	37	20	58587641	58587641	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58587641C>T	ENST00000348616.4	+	18	2655	c.2355C>T	c.(2353-2355)agC>agT	p.S785S	CDH26_ENST00000244049.3_Silent_p.S77S|CDH26_ENST00000350849.6_Silent_p.S118S|CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000244047.5_Intron	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			ACGTCTACAGCGAGGAAGGGG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	0,4406		0,0,2203	99	92	94		354,2355	-7.6	0	20		94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CDH26	NM_021810.4,NM_177980.2	,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,	118/166,785/833	58587641	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215	60437	60437		Cadherins / Major cadherins	15902	protein-coding gene	gene with protein product			cadherin-like 26		NA		Standard	NM_177980	NM_177980	NA	Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000348616.4:c.2355C>T	20.37:g.58587641C>T		NA	A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	37	CCDS13485.1																																																																																			CDH26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079933.2		+	ENST00000348616.4	Silent	SNP	20 : 58587641 - 58587641 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	495	93
INPP5F	22876	broad.mit.edu	37	10	121551041	121551041	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121551041C>T	ENST00000361976.2	+	4	494	c.328C>T	c.(328-330)Cat>Tat	p.H110Y	INPP5F_ENST00000369083.3_Missense_Mutation_p.H110Y|INPP5F_ENST00000369081.1_Missense_Mutation_p.H14Y	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	110							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CTGTAAGAAGCATCATTTTGG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	112	110			NA	NA	10		NA											NA				121551041		2203	4298	6501	SO:0001583	missense			AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825	22876	22876			17054	protein-coding gene	gene with protein product		609389			NA	10231032, 11274189	Standard	NM_014937	NM_014937	NA	Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.328C>T	10.37:g.121551041C>T	ENSP00000354519:p.His110Tyr	NA	D3DRD1|Q2T9J4|Q5W136|Q6NVY2|Q86U97|Q9H3D9|Q9NT51	37	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669097	0.88348	.	.	ENSG00000198825	ENST00000361976;ENST00000369083;ENST00000369081	T;T	0.59772	0.74;0.24	5.63	5.63	0.86233	Synaptojanin, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76716	0.4026	M	0.71036	2.16	0.80722	D	1	P;D	0.67145	0.889;0.996	P;D	0.75484	0.651;0.986	T	0.76539	-0.2922	10	0.56958	D	0.05	-25.1659	20.0344	0.97551	0.0:1.0:0.0:0.0	.	110;110	Q9Y2H2;Q9Y2H2-3	SAC2_HUMAN;.	Y	110;110;14	ENSP00000354519:H110Y;ENSP00000358079:H110Y	ENSP00000354519:H110Y	H	+	1	0	INPP5F	121541031	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.355000	0.79434	2.803000	0.96430	0.650000	0.86243	CAT	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050679.1		+	ENST00000361976.2	Missense_Mutation	SNP	10 : 121551041 - 121551041 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	466	79
MOV10	4343	broad.mit.edu	37	1	113243054	113243054	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113243054C>A	ENST00000369644.1	+	22	3798	c.2769C>A	c.(2767-2769)gaC>gaA	p.D923E	MOV10_ENST00000369645.1_Missense_Mutation_p.D979E|MOV10_ENST00000413052.2_Missense_Mutation_p.D979E|MOV10_ENST00000357443.2_Missense_Mutation_p.D979E|MOV10_ENST00000468624.1_3'UTR			Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	979					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		ACAGCCATGACTACCTCCCCC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	83	82			NA	NA	1		NA											NA				113243054		2203	4300	6503	SO:0001583	missense			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363	4343	4343			7200	protein-coding gene	gene with protein product	functional spliceosome-associated protein 113	610742	Mov10 (Moloney leukemia virus 10, mouse) homolog, Mov10, Moloney leukemia virus 10, homolog (mouse)		NA	12226669	Standard	NM_020963	NM_001286072	NA	Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000369644.1:c.2769C>A	1.37:g.113243054C>A	ENSP00000358658:p.Asp923Glu	NA	Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	37		.	.	.	.	.	.	.	.	.	.	C	3.646	-0.072504	0.07228	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.91011	-2.77;-2.77;-2.76;-2.77	5.11	2.12	0.27331	.	0.578929	0.17478	N	0.172838	T	0.60130	0.2245	N	0.22421	0.69	0.20307	N	0.999918	B	0.16603	0.018	B	0.11329	0.006	T	0.54655	-0.8261	10	0.02654	T	1	-9.6831	6.2632	0.20912	0.0:0.6594:0.1626:0.1779	.	979	Q9HCE1	MOV10_HUMAN	E	979;979;923;979;917	ENSP00000399797:D979E;ENSP00000358659:D979E;ENSP00000358658:D923E;ENSP00000350028:D979E	ENSP00000350028:D979E	D	+	3	2	MOV10	113044577	0.065000	0.20965	0.005000	0.12908	0.003000	0.03518	0.539000	0.23175	0.635000	0.30488	-0.251000	0.11542	GAC	MOV10-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000032908.1		+	ENST00000369644.1	Missense_Mutation	SNP	1 : 113243054 - 113243054 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	346	44
TXLNB	167838	broad.mit.edu	37	6	139598041	139598041	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139598041G>T	ENST00000358430.3	-	3	674	c.442C>A	c.(442-444)Cta>Ata	p.L148I	RP11-445F6.2_ENST00000441249.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	148						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TTTTGCATTAGCAGGTTGGCT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	89	89			NA	NA	6		NA											NA				139598041		2202	4298	6500	SO:0001583	missense				CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440	167838	167838			21617	protein-coding gene	gene with protein product		611438	chromosome 6 open reading frame 198	C6orf198	NA	15184072	Standard	NM_153235	NM_153235	NA	Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.442C>A	6.37:g.139598041G>T	ENSP00000351206:p.Leu148Ile	NA	Q5VTF3|Q76L25|Q86T52|Q8N3S2	37	CCDS34545.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469088	0.63625	.	.	ENSG00000164440	ENST00000358430	T	0.39997	1.05	5.06	4.18	0.49190	.	0.067702	0.64402	N	0.000011	T	0.49695	0.1572	M	0.82323	2.585	0.38835	D	0.955921	D	0.63880	0.993	D	0.65573	0.936	T	0.56836	-0.7913	9	.	.	.	-10.2692	6.224	0.20698	0.1497:0.0:0.6965:0.1538	.	148	Q8N3L3	TXLNB_HUMAN	I	148	ENSP00000351206:L148I	.	L	-	1	2	TXLNB	139639734	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	3.799000	0.55529	1.235000	0.43724	0.555000	0.69702	CTA	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042458.1		-	ENST00000358430.3	Missense_Mutation	SNP	6 : 139598041 - 139598041 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	47
PCDHGA3	56112	broad.mit.edu	37	5	140724707	140724707	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140724707C>T	ENST00000253812.6	+	1	1107	c.1107C>T	c.(1105-1107)atC>atT	p.I369I	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			protocadherin gamma subfamily A, 3	NA								p.I369I(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCTCTTATCGACGTGCATG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	endometrium(1)											116	119	118			NA	NA	5		NA											NA				140724707		1991	4188	6179	SO:0001819	synonymous_variant			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245	56112	56112		Cadherins / Protocadherins : Clustered	8701	other	protocadherin		606290			NA	10380929	Standard	NM_018916	NM_032011	NA	Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1107C>T	5.37:g.140724707C>T		NA		37	CCDS47290.1																																																																																			PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377017.1		+	ENST00000253812.6	Silent	SNP	5 : 140724707 - 140724707 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	478	39
PNPLA7	375775	broad.mit.edu	37	9	140392624	140392624	+	Missense_Mutation	SNP	G	G	A	rs148776350		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140392624G>A	ENST00000277531.4	-	16	1942	c.1756C>T	c.(1756-1758)Cgg>Tgg	p.R586W	PNPLA7_ENST00000406427.1_Missense_Mutation_p.R611W|PNPLA7_ENST00000371457.1_Missense_Mutation_p.R192W	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	586					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TCGATTTGCCGCACGAAGGAC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG,TRP/ARG	0,4402		0,0,2201	154	116	129		1831,1756	2.2	1	9	dbSNP_134	129	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	PNPLA7	NM_001098537.1,NM_152286.3	101,101	0,1,6499	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging	611/1343,586/1318	140392624	1,12999	2201	4299	6500	SO:0001583	missense			AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653	375775	375775		Patatin-like phospholipase domain containing	24768	protein-coding gene	gene with protein product		612122	chromosome 9 open reading frame 111	C9orf111	NA	16799181, 12640454, 19029121	Standard	NM_152286	XM_005266082	NA	Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.1756C>T	9.37:g.140392624G>A	ENSP00000277531:p.Arg586Trp	NA	B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	37	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974443	0.74246	0.0	1.16E-4	ENSG00000130653	ENST00000371457;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	4.4	2.19	0.27852	Cyclic nucleotide-binding-like (2);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.65565	0.2703	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.70905	-0.4745	10	0.87932	D	0	-25.6295	11.2036	0.48756	0.0:0.0:0.6261:0.3739	.	611;586	Q6ZV29-5;Q6ZV29	.;PLPL7_HUMAN	W	192;586;611;586;577	ENSP00000360512:R192W;ENSP00000277531:R586W;ENSP00000384610:R611W;ENSP00000400582:R577W	ENSP00000277531:R586W	R	-	1	2	PNPLA7	139512445	0.016000	0.18221	1.000000	0.80357	0.983000	0.72400	0.023000	0.13533	0.859000	0.35456	0.448000	0.29417	CGG	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254787.1		-	ENST00000277531.4	Missense_Mutation	SNP	9 : 140392624 - 140392624 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	441	72
MUC16	94025	broad.mit.edu	37	19	9084855	9084855	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9084855G>T	ENST00000397910.4	-	1	7163	c.6960C>A	c.(6958-6960)acC>acA	p.T2320T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2320	Ser-rich.|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						GAGCAGCAGAGGTGATTGTCC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	92	92			NA	NA	19		NA											NA				9084855		2000	4152	6152	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.6960C>A	19.37:g.9084855G>T		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 : 9084855 - 9084855 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	165	28
GSS	2937	broad.mit.edu	37	20	33517274	33517274	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33517274G>A	ENST00000216951.2	-	12	1329	c.1231C>T	c.(1231-1233)Cta>Tta	p.L411L	GSS_ENST00000541098.1_Silent_p.L283L|GSS_ENST00000451957.2_Silent_p.L300L	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	411					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	CCAGGCCGTAGCAGGCAATTC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													216	197	204			NA	NA	20		NA											NA				33517274		2203	4300	6503	SO:0001819	synonymous_variant				CCDS13245.1	20q11.2	1996-06-18			ENSG00000100983	ENSG00000100983	2937	2937	6.3.2.3		4624	protein-coding gene	gene with protein product		601002			NA	8825653	Standard		NM_000178	NA	Approved		uc002xbg.3	P48637	OTTHUMG00000032315	ENST00000216951.2:c.1231C>T	20.37:g.33517274G>A		NA	B2R697|E1P5P9|Q4TTD9	37	CCDS13245.1																																																																																			GSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078821.2		-	ENST00000216951.2	Silent	SNP	20 : 33517274 - 33517274 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1466	264
MON1B	22879	broad.mit.edu	37	16	77228807	77228807	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77228807C>A	ENST00000439557.2	+	3	801	c.724C>A	c.(724-726)Ctg>Atg	p.L242M	MON1B_ENST00000320859.6_Intron|MON1B_ENST00000248248.3_Missense_Mutation_p.L351M|MON1B_ENST00000545553.1_Missense_Mutation_p.L205M			Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	351							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						TGTCTGCCTGCTGCTGCTTGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	94	93			NA	NA	16		NA											NA				77228807		2198	4300	6498	SO:0001583	missense			BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111	22879	22879			25020	protein-coding gene	gene with protein product		608954	MON1 homolog B (yeast)		NA	10048485	Standard	NM_014940	NM_014940	NA	Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000439557.2:c.724C>A	16.37:g.77228807C>A	ENSP00000404053:p.Leu242Met	NA	O94949	37		.	.	.	.	.	.	.	.	.	.	C	16.89	3.248251	0.59103	.	.	ENSG00000103111	ENST00000248248;ENST00000439557;ENST00000545553	.	.	.	4.53	3.49	0.39957	.	0.145145	0.44688	D	0.000439	T	0.68375	0.2994	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.67145	0.992;0.996;0.996;0.994	D;D;D;D	0.70935	0.94;0.971;0.964;0.94	T	0.66586	-0.5886	9	0.39692	T	0.17	.	10.4658	0.44607	0.0:0.6801:0.3198:0.0	.	205;242;231;351	B4DDZ0;E7EW32;Q6ZR87;Q7L1V2	.;.;.;MON1B_HUMAN	M	351;242;205	.	ENSP00000248248:L351M	L	+	1	2	MON1B	75786308	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	0.901000	0.28445	2.456000	0.83038	0.563000	0.77884	CTG	MON1B-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000433886.1		+	ENST00000439557.2	Missense_Mutation	SNP	16 : 77228807 - 77228807 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	524	184
ZC3H12C	85463	broad.mit.edu	37	11	110007429	110007429	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110007429C>T	ENST00000528673.1	+	2	145	c.66C>T	c.(64-66)agC>agT	p.S22S	ZC3H12C_ENST00000453089.2_5'UTR|ZC3H12C_ENST00000278590.3_Silent_p.S21S			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	21							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GAAAAAACAGCAAAGTGGAGT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	91	91			NA	NA	11		NA											NA				110007429		1965	4147	6112	SO:0001819	synonymous_variant				CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289	85463	85463		Zinc fingers, CCCH-type domain containing	29362	protein-coding gene	gene with protein product	MCP induced protein 3	615001			NA	11214970, 18178554	Standard	NM_033390	NM_033390	NA	Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000528673.1:c.66C>T	11.37:g.110007429C>T		NA		37																																																																																				ZC3H12C-003	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000390492.1		+	ENST00000528673.1	Silent	SNP	11 : 110007429 - 110007429 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	310	13
FKBP4	2288	broad.mit.edu	37	12	2907877	2907877	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2907877G>A	ENST00000001008.4	+	4	586	c.399G>A	c.(397-399)gaG>gaA	p.E133E	RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	133	PPIase FKBP-type 1.				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	CACAGGTGGAGTTGTTTGAGT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	150	154			NA	NA	12		NA											NA				2907877		2203	4300	6503	SO:0001819	synonymous_variant			M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478	2288	2288		Tetratricopeptide (TTC) repeat domain containing	3720	protein-coding gene	gene with protein product		600611	FK506-binding protein 4 (59kD)		NA	1279700	Standard		NM_002014	NA	Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.399G>A	12.37:g.2907877G>A		NA	D3DUQ1|Q9UCP1|Q9UCV7	37	CCDS8512.1																																																																																			FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206861.1		+	ENST00000001008.4	Silent	SNP	12 : 2907877 - 2907877 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	732	121
RFXANK	8625	broad.mit.edu	37	19	19308954	19308954	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19308954C>T	ENST00000303088.4	+	7	951	c.477C>T	c.(475-477)agC>agT	p.S159S	RFXANK_ENST00000353145.1_Silent_p.S136S|RFXANK_ENST00000456252.3_Silent_p.S137S|RFXANK_ENST00000407360.3_Silent_p.S159S|RFXANK_ENST00000392324.4_Silent_p.S136S	NM_003721.2	NP_003712.1	O14593	RFXK_HUMAN	regulatory factor X-associated ankyrin-containing protein	159						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14			Epithelial(12;0.00228)			AGCGAGAGAGCGCCCTGTCGC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	2,4404	4.2+/-10.8	0,2,2201	81	87	85		477,408	-6.2	0.9	19		85	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RFXANK	NM_003721.2,NM_134440.1	,	0,2,6501	TT,TC,CC	NA	0.0,0.0454,0.0154	,	159/261,136/238	19308954	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AF094760	CCDS12395.1, CCDS12396.1, CCDS62611.1	19p12	2014-09-17			ENSG00000064490	ENSG00000064490	8625	8625		Ankyrin repeat domain containing	9987	protein-coding gene	gene with protein product	ankyrin repeat-containing regulatory factor X-associated protein, regulatory factor X subunit B, RFX-Bdelta4, DNA-binding protein RFXANK	603200			NA	9806546, 10072068	Standard	NM_003721	NM_003721	NA	Approved	BLS, RFX-B, ANKRA1, F14150_1, MGC138628	uc002nls.3	O14593	OTTHUMG00000169224	ENST00000303088.4:c.477C>T	19.37:g.19308954C>T		NA	O95839|Q6FGA8	37	CCDS12395.1																																																																																			RFXANK-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402923.2		+	ENST00000303088.4	Silent	SNP	19 : 19308954 - 19308954 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	845	155
ZNF678	339500	broad.mit.edu	37	1	227843057	227843057	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227843057G>T	ENST00000343776.5	+	4	1451	c.1106G>T	c.(1105-1107)aGa>aTa	p.R369I	ZNF678_ENST00000397097.3_Missense_Mutation_p.R424I|ZNF678_ENST00000608949.1_Intron	NM_178549.3	NP_848644.2	F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	NA					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.R369I(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				CAGCATAAAAGAATTCATACT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											34	38	36			NA	NA	1		NA											NA				227843057		2199	4295	6494	SO:0001583	missense			BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450	339500	339500		Zinc fingers, C2H2-type, -	28652	protein-coding gene	gene with protein product	hypothetical protein MGC42493				NA	12477932	Standard	NM_178549	NM_178549	NA	Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.1106G>T	1.37:g.227843057G>T	ENSP00000344828:p.Arg369Ile	NA		37		.	.	.	.	.	.	.	.	.	.	G	7.832	0.720050	0.15372	.	.	ENSG00000181450	ENST00000343776;ENST00000397097	T;T	0.24908	1.83;1.83	1.5	0.462	0.16695	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26557	0.0649	L	0.50333	1.59	0.45108	D	0.998124	P	0.40180	0.705	P	0.47346	0.544	T	0.03957	-1.0989	9	0.33141	T	0.24	.	6.2127	0.20638	0.1959:0.0:0.8041:0.0	.	369	Q5SXM1	ZN678_HUMAN	I	369;424	ENSP00000344828:R369I;ENSP00000440403:R424I	ENSP00000344828:R369I	R	+	2	0	ZNF678	225909680	0.000000	0.05858	0.004000	0.12327	0.007000	0.05969	-0.192000	0.09587	-0.085000	0.12573	-0.283000	0.09986	AGA	ZNF678-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000091976.2		+	ENST00000343776.5	Missense_Mutation	SNP	1 : 227843057 - 227843057 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	287	68
ZNF33A	7581	broad.mit.edu	37	10	38343685	38343685	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38343685G>T	ENST00000374618.3	+	5	811	c.633G>T	c.(631-633)aaG>aaT	p.K211N	ZNF33A_ENST00000458705.2_Missense_Mutation_p.K210N|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Missense_Mutation_p.K217N|ZNF33A_ENST00000307441.9_Missense_Mutation_p.K210N	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	210						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AGCATGAGAAGATTCAAACTT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	83	84			NA	NA	10		NA											NA				38343685		2203	4300	6503	SO:0001583	missense			D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180	7581	7581		Zinc fingers, C2H2-type, -	13096	protein-coding gene	gene with protein product	zinc finger and ZAK associated protein with KRAB domain	194521	zinc finger protein 33a (KOX 31), zinc finger protein 11A	ZNF33, ZNF11A	NA	2014798, 8464732	Standard	NM_006974	NM_006974	NA	Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000374618.3:c.633G>T	10.37:g.38343685G>T	ENSP00000363747:p.Lys211Asn	NA	P17013|Q5VZ86	37	CCDS44372.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.042204	0.35989	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.07327	3.2;3.23;3.23;3.23	2.26	0.11	0.14611	.	0.000000	0.34133	N	0.004228	T	0.10078	0.0247	L	0.58810	1.83	0.09310	N	1	P;P;B	0.49635	0.86;0.926;0.051	P;P;B	0.47075	0.536;0.454;0.067	T	0.13415	-1.0510	10	0.87932	D	0	.	4.2204	0.10554	0.1641:0.4812:0.3547:0.0	.	217;210;211	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	N	211;217;210;210	ENSP00000363747:K211N;ENSP00000402467:K217N;ENSP00000387713:K210N;ENSP00000304268:K210N	ENSP00000304268:K210N	K	+	3	2	ZNF33A	38383691	0.000000	0.05858	0.426000	0.26672	0.225000	0.24961	0.698000	0.25571	0.219000	0.20840	0.460000	0.39030	AAG	ZNF33A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047614.1		+	ENST00000374618.3	Missense_Mutation	SNP	10 : 38343685 - 38343685 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	485	68
THEG	51298	broad.mit.edu	37	19	372691	372691	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:372691C>T	ENST00000342640.4	-	5	617	c.575G>A	c.(574-576)cGc>cAc	p.R192H	THEG_ENST00000346878.2_Missense_Mutation_p.R168H	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	192					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCACGCGGCGGGACACCGC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	100	106			NA	NA	19		NA											NA				372691		2203	4300	6503	SO:0001583	missense			AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549	51298	51298			13706	protein-coding gene	gene with protein product	cancer/testis antigen 56	609503	Theg homolog (mouse)		NA	11173852	Standard		NM_016585	NA	Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.575G>A	19.37:g.372691C>T	ENSP00000340088:p.Arg192His	NA	A6NMJ8	37	CCDS12025.1	.	.	.	.	.	.	.	.	.	.	C	9.397	1.076990	0.20227	.	.	ENSG00000105549	ENST00000342640;ENST00000346878	T;T	0.19105	2.17;2.23	3.31	-3.36	0.04913	.	2.622300	0.01419	N	0.014297	T	0.32585	0.0834	M	0.65498	2.005	0.09310	N	1	D;D	0.64830	0.986;0.994	P;P	0.54499	0.674;0.754	T	0.40961	-0.9535	10	0.56958	D	0.05	-11.6402	4.0262	0.09688	0.0:0.3076:0.3472:0.3452	.	168;192	Q9P2T0-2;Q9P2T0	.;THEG_HUMAN	H	192;168	ENSP00000340088:R192H;ENSP00000264820:R168H	ENSP00000340088:R192H	R	-	2	0	THEG	323691	0.001000	0.12720	0.005000	0.12908	0.092000	0.18411	-1.869000	0.01643	-0.528000	0.06366	0.561000	0.74099	CGC	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384431.2		-	ENST00000342640.4	Missense_Mutation	SNP	19 : 372691 - 372691 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	304	42
CCDC47	57003	broad.mit.edu	37	17	61838630	61838630	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61838630G>A	ENST00000225726.5	-	5	1011	c.629C>T	c.(628-630)tCt>tTt	p.S210F	CCDC47_ENST00000582252.1_Missense_Mutation_p.S210F|CCDC47_ENST00000403162.3_Missense_Mutation_p.S210F	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	210						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						CACTCGACCAGAACACCACAG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													301	244	264			NA	NA	17		NA											NA				61838630		2203	4300	6503	SO:0001583	missense			AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588	57003	57003			24856	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_020198	NM_020198	NA	Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.629C>T	17.37:g.61838630G>A	ENSP00000225726:p.Ser210Phe	NA	B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	37	CCDS11643.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.990571	0.54041	.	.	ENSG00000108588	ENST00000225726;ENST00000403162	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.83418	0.5250	M	0.82056	2.57	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.998;0.999	D	0.85013	0.0907	9	0.87932	D	0	-13.4833	18.8345	0.92155	0.0:0.0:1.0:0.0	.	210;210	Q96A33-2;Q96A33	.;CCD47_HUMAN	F	210	.	ENSP00000225726:S210F	S	-	2	0	CCDC47	59192362	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	9.662000	0.98603	2.760000	0.94817	0.591000	0.81541	TCT	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444016.2		-	ENST00000225726.5	Missense_Mutation	SNP	17 : 61838630 - 61838630 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1114	220
KIAA0556	23247	broad.mit.edu	37	16	27789047	27789047	+	Silent	SNP	C	C	T	rs113619157	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27789047C>T	ENST00000261588.4	+	26	4687	c.4668C>T	c.(4666-4668)acC>acT	p.T1556T		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1556										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TCCTCTTCACCGAGGACAGGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4393	2.1+/-5.4	0,1,2196	111	92	98		4668	-1.6	1	16	dbSNP_132	98	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous	KIAA0556	NM_015202.2		0,13,6484	TT,TC,CC	NA	0.1395,0.0228,0.1		1556/1619	27789047	13,12981	2197	4300	6497	SO:0001819	synonymous_variant			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578	23247	23247			29068	protein-coding gene	gene with protein product					NA	9628581	Standard	NM_015202	NM_015202	NA	Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.4668C>T	16.37:g.27789047C>T		NA	A7E2C2	37	CCDS32415.1																																																																																			KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000433724.1		+	ENST00000261588.4	Silent	SNP	16 : 27789047 - 27789047 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	592	113
PRRC2B	84726	broad.mit.edu	37	9	134349022	134349022	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134349022C>T	ENST00000405995.1	+	15	2461	c.2235C>T	c.(2233-2235)agC>agT	p.S745S	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000357304.4_Silent_p.S745S|PRRC2B_ENST00000458550.1_Silent_p.S745S			Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	745							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CTGTGTGGAGCCCAGAGGGCT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	37	36			NA	NA	9		NA											NA				134349022		1986	4145	6131	SO:0001819	synonymous_variant			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723	84726	84726			28121	protein-coding gene	gene with protein product			KIAA0515, HLA-B associated transcript 2-like, HLA-B associated transcript 2-like 1	KIAA0515, BAT2L, BAT2L1	NA	9628581	Standard		NM_013318	NA	Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000405995.1:c.2235C>T	9.37:g.134349022C>T		NA	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	37																																																																																				PRRC2B-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000054751.1		+	ENST00000405995.1	Silent	SNP	9 : 134349022 - 134349022 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	160	26
PTPRS	5802	broad.mit.edu	37	19	5222822	5222822	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5222822G>A	ENST00000587303.1	-	17	3080	c.2981C>T	c.(2980-2982)gCg>gTg	p.A994V	PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000372412.4_Missense_Mutation_p.A995V|PTPRS_ENST00000588012.1_Missense_Mutation_p.A972V|PTPRS_ENST00000262963.6_Missense_Mutation_p.A990V|PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000357368.4_Missense_Mutation_p.A994V|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000348075.2_Missense_Mutation_p.A972V			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	994	Fibronectin type-III 7.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CAGCGTGAGCGCGTTCTCCGC	0.731		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								A	VAL/ALA,,VAL/ALA,	2,4200		0,2,2099	12	15	14		2981,,2915,	-0.8	0.8	19		14	0,8130		0,0,4065	no	missense,intron,missense,intron	PTPRS	NM_002850.3,NM_130853.2,NM_130854.2,NM_130855.2	64,,64,	0,2,6164	AA,AG,GG	NA	0.0,0.0476,0.0162	benign,,benign,	994/1949,,972/1911,	5222822	2,12330	2101	4065	6166	SO:0001583	missense			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426	5802	5802		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	9681	protein-coding gene	gene with protein product		601576			NA	8954782, 8524829	Standard		NM_002850	NA	Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.2981C>T	19.37:g.5222822G>A	ENSP00000467537:p.Ala994Val	NA	O75255|O75870|Q15718|Q16341|Q2M3R7	37	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	g	5.095	0.203235	0.09704	4.76E-4	0.0	ENSG00000105426	ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	4.33	-0.79	0.10932	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.405543	0.21402	N	0.075123	T	0.37265	0.0997	L	0.39020	1.185	0.19575	N	0.999969	B;B	0.09022	0.0;0.002	B;B	0.09377	0.001;0.004	T	0.21143	-1.0254	10	0.29301	T	0.29	.	10.5921	0.45316	0.2704:0.0:0.7296:0.0	.	972;994	Q13332-6;Q13332	.;PTPRS_HUMAN	V	995;994;994;985;990;972	ENSP00000361489:A995V;ENSP00000349932:A994V;ENSP00000262963:A990V;ENSP00000269907:A972V	ENSP00000262963:A990V	A	-	2	0	PTPRS	5173822	0.450000	0.25697	0.820000	0.32676	0.232000	0.25224	0.394000	0.20834	-0.270000	0.09285	-0.993000	0.02533	GCG	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450762.2		-	ENST00000587303.1	Missense_Mutation	SNP	19 : 5222822 - 5222822 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	280	49
CLCN2	1181	broad.mit.edu	37	3	184072081	184072081	+	Missense_Mutation	SNP	G	G	A	rs145746859		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184072081G>A	ENST00000434054.2	-	14	1520	c.1397C>T	c.(1396-1398)gCg>gTg	p.A466V	CLCN2_ENST00000344937.7_Missense_Mutation_p.A493V|CLCN2_ENST00000423355.2_Missense_Mutation_p.R126W|CLCN2_ENST00000265593.4_Missense_Mutation_p.A510V|CLCN2_ENST00000457512.1_Missense_Mutation_p.A510V|EIF2B5_ENST00000444495.1_Intron	NM_001171088.2	NP_001164559.1	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	510						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GTGTGTCACCGCTCCTGCCAG	0.627		NA									OREG0015949	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4404		0,0,2202	50	39	43		1478,1397,1529,1529	5.1	1	3	dbSNP_134	43	2,8598	1.2+/-3.3	0,2,4298	no	missense,missense,missense,missense	CLCN2	NM_001171087.1,NM_001171088.1,NM_001171089.1,NM_004366.4	64,64,64,64	0,2,6500	AA,AG,GG	NA	0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	493/882,466/855,510/870,510/899	184072081	2,13002	2202	4300	6502	SO:0001583	missense			S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859	1181	1181		Ion channels / Chloride channels : Voltage-sensitive	2020	protein-coding gene	gene with protein product		600570	chloride channel 2		NA	7795595	Standard		NM_004366	NA	Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000434054.2:c.1397C>T	3.37:g.184072081G>A	ENSP00000400425:p.Ala466Val	1989	O14864|Q6IPA9|Q8WU13	37	CCDS54690.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	33|33	5.197962|5.197962	0.94997|0.94997	0.0|0.0	2.33E-4|2.33E-4	ENSG00000114859|ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512|ENST00000423355	D;D;D;D|T	0.95171|0.70399	-3.63;-3.63;-3.63;-3.63|-0.48	5.14|5.14	5.14|5.14	0.70334|0.70334	Chloride channel, core (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79070|0.79070	0.4384|0.4384	L|L	0.53561|0.53561	1.675|1.675	0.41557|0.41557	D|D	0.988604|0.988604	D;P;P;B;B|.	0.52996|.	0.957;0.558;0.948;0.415;0.204|.	P;B;P;B;B|.	0.48400|.	0.568;0.158;0.576;0.158;0.075|.	T|T	0.81575|0.81575	-0.0870|-0.0870	10|7	0.87932|0.87932	D|D	0|0	-3.6081|-3.6081	18.2333|18.2333	0.89941|0.89941	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	466;510;493;510;466|.	E9PBD9;E9PCD2;P51788-3;P51788;B4DZ58|.	.;.;.;CLCN2_HUMAN;.|.	V|W	510;493;466;510|126	ENSP00000265593:A510V;ENSP00000345056:A493V;ENSP00000400425:A466V;ENSP00000391928:A510V|ENSP00000412226:R126W	ENSP00000265593:A510V|ENSP00000412226:R126W	A|R	-|-	2|1	0|2	CLCN2|CLCN2	185554775|185554775	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	9.768000|9.768000	0.98965|0.98965	2.391000|2.391000	0.81399|0.81399	0.563000|0.563000	0.77884|0.77884	GCG|CGG	CLCN2-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345573.1		-	ENST00000434054.2	Missense_Mutation	SNP	3 : 184072081 - 184072081 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	192	40
PABPC3	5042	broad.mit.edu	37	13	25672226	25672226	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25672226T>G	ENST00000281589.3	+	1	1927	c.1890T>G	c.(1888-1890)acT>acG	p.T630T		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	630					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GTGTTCCAACTGTTTAAAATT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	92	89			NA	NA	13		NA											NA				25672226		2202	4298	6500	SO:0001819	synonymous_variant			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846	5042	5042		RNA binding motif (RRM) containing	8556	protein-coding gene	gene with protein product	testis PABP	604680	poly(A)-binding protein, cytoplasmic 3	PABPL3	NA	8432538, 10543404	Standard	NM_030979	NM_030979	NA	Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1890T>G	13.37:g.25672226T>G		NA	Q8NHV0|Q9H086	37	CCDS9311.1																																																																																			PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044220.2		+	ENST00000281589.3	Silent	SNP	13 : 25672226 - 25672226 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	661	131
N4BP2	55728	broad.mit.edu	37	4	40104536	40104536	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40104536G>A	ENST00000261435.6	+	4	1487	c.1071G>A	c.(1069-1071)ccG>ccA	p.P357P		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	357	Pro-rich.					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TGCCTCCTCCGCCACCTCCAC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	121	122			NA	NA	4		NA											NA				40104536		2203	4300	6503	SO:0001819	synonymous_variant			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177	55728	55728			29851	protein-coding gene	gene with protein product	BCL-3 binding protein				NA	10718198, 11717310	Standard	NM_018177	NM_018177	NA	Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.1071G>A	4.37:g.40104536G>A		NA	A0AVR3|Q9NVK2|Q9P2D4	37	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.602319	0.00849	.	.	ENSG00000078177	ENST00000513269	.	.	.	6.07	-12.1	0.00011	.	.	.	.	.	T	0.12178	0.0296	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.09618	-1.0666	4	.	.	.	-2.5964	0.9054	0.01283	0.2678:0.2321:0.2979:0.2023	.	.	.	.	T	4	.	.	A	+	1	0	N4BP2	39780931	0.000000	0.05858	0.007000	0.13788	0.001000	0.01503	-1.413000	0.02473	-1.582000	0.01640	-1.303000	0.01326	GCC	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250458.2		+	ENST00000261435.6	Silent	SNP	4 : 40104536 - 40104536 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	548	106
PRG4	10216	broad.mit.edu	37	1	186273347	186273347	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186273347A>C	ENST00000445192.2	+	5	472	c.427A>C	c.(427-429)Aag>Cag	p.K143Q	PRG4_ENST00000367485.4_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.K102Q|PRG4_ENST00000367486.3_Missense_Mutation_p.K143Q|PRG4_ENST00000367484.3_Missense_Mutation_p.K102Q	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	143					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCAAACAAGAAGAAGACTAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	150	153			NA	NA	1		NA											NA				186273347		2203	4300	6503	SO:0001583	missense			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690	10216	10216			9364	protein-coding gene	gene with protein product	lubricin, megakaryocyte stimulating factor, articular superficial zone protein, Jacobs camptodactyly-arthropathy-pericarditis syndrome, camptodactyly, arthropathy, coxa vara, pericarditis syndrome, bG174L6.2 (MSF: megakaryocyte stimulating factor )	604283	proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)	CACP	NA	10545950, 9920774	Standard	NM_005807	NM_005807	NA	Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.427A>C	1.37:g.186273347A>C	ENSP00000399679:p.Lys143Gln	NA	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	37	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	A	16.31	3.086542	0.55861	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367483;ENST00000445192	T;T;T;T	0.07688	3.17;3.27;3.19;3.22	5.3	5.3	0.74995	.	0.156884	0.29948	N	0.010787	T	0.17238	0.0414	L	0.29908	0.895	0.29742	N	0.837011	D;D	0.71674	0.997;0.998	D;D	0.68943	0.915;0.961	T	0.01608	-1.1313	10	0.87932	D	0	.	12.7893	0.57523	1.0:0.0:0.0:0.0	.	143;102	Q92954;Q92954-2	PRG4_HUMAN;.	Q	143;102;102;143	ENSP00000356456:K143Q;ENSP00000356454:K102Q;ENSP00000356453:K102Q;ENSP00000399679:K143Q	ENSP00000356453:K102Q	K	+	1	0	PRG4	184539970	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.955000	0.56715	2.006000	0.58801	0.477000	0.44152	AAG	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086346.1		+	ENST00000445192.2	Missense_Mutation	SNP	1 : 186273347 - 186273347 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	365	46
LRRC43	254050	broad.mit.edu	37	12	122677357	122677357	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122677357C>T	ENST00000339777.4	+	7	1183	c.1155C>T	c.(1153-1155)gaC>gaT	p.D385D	LRRC43_ENST00000425921.1_Silent_p.D200D	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	385	Glu-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TCGTGGAAGACGTCATCGAAG	0.517		NA											c	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	4e-04	0.95	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				0													114	114	114			NA	NA	12		NA											NA				122677357		2032	4205	6237	SO:0001819	synonymous_variant			AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113	254050	254050			28562	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152759	NM_152759	NA	Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1155C>T	12.37:g.122677357C>T		NA	Q6ZVT9	37	CCDS45001.1																																																																																			LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401589.1		+	ENST00000339777.4	Silent	SNP	12 : 122677357 - 122677357 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	365	72
PARD3	56288	broad.mit.edu	37	10	34420423	34420423	+	Missense_Mutation	SNP	G	G	A	rs149035058	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:34420423G>A	ENST00000374789.3	-	23	3842	c.3517C>T	c.(3517-3519)Cgt>Tgt	p.R1173C	PARD3_ENST00000374794.3_Missense_Mutation_p.R1061C|PARD3_ENST00000346874.4_Missense_Mutation_p.R1136C|PARD3_ENST00000545260.1_Missense_Mutation_p.R1083C|PARD3_ENST00000350537.4_Missense_Mutation_p.R1127C|PARD3_ENST00000545693.1_Missense_Mutation_p.R1157C|PARD3_ENST00000374790.3_Missense_Mutation_p.R1113C|PARD3_ENST00000374788.3_Missense_Mutation_p.R1170C	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1173					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GTCCGCCGACGATCTTCTACA	0.458		NA											G	7	0.0032	0.01	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0032	1	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0								G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	5,4401	11.4+/-27.6	0,5,2198	240	196	211		3508,3469,3406,3379,3268,3247,3181,3517	5	0.6	10	dbSNP_134	211	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense,missense,missense,missense	PARD3	NM_001184785.1,NM_001184786.1,NM_001184787.1,NM_001184788.1,NM_001184789.1,NM_001184790.1,NM_001184791.1,NM_019619.3	180,180,180,180,180,180,180,180	0,5,6498	AA,AG,GG	NA	0.0,0.1135,0.0384	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1170/1354,1157/1341,1136/1320,1127/1311,1090/1274,1083/1267,1061/1245,1173/1357	34420423	5,13001	2203	4300	6503	SO:0001583	missense			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498	56288	56288			16051	protein-coding gene	gene with protein product	atypical PKC isotype-specific interacting protein, par-3 family cell polarity regulator alpha, protein phosphatase 1, regulatory subunit 118	606745	par-3 (partitioning defective 3, C.elegans) homolog, par-3 partitioning defective 3 homolog (C. elegans)		NA	10934474	Standard	NM_019619	NM_001184790	NA	Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.3517C>T	10.37:g.34420423G>A	ENSP00000363921:p.Arg1173Cys	NA	Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	37	CCDS7178.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	G	18.85	3.711558	0.68730	0.001135	0.0	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790	T;T;T;T;T;T;T;T	0.20200	2.12;2.09;2.17;2.17;2.27;2.22;2.09;2.11	5.93	4.98	0.66077	.	0.051842	0.85682	D	0.000000	T	0.35624	0.0938	M	0.62723	1.935	0.80722	D	1	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	D;D;D;D;D;D;D;D	0.91635	0.97;0.966;0.999;0.999;0.999;0.97;0.999;0.997	T	0.31833	-0.9929	10	0.87932	D	0	.	14.047	0.64710	0.0:0.0:0.6138:0.3861	.	1061;1083;1090;1127;1157;1136;1170;1173	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0	.;.;.;.;.;.;.;PARD3_HUMAN	C	1157;1083;1173;1170;1136;1061;1127;1113	ENSP00000443147:R1157C;ENSP00000440857:R1083C;ENSP00000363921:R1173C;ENSP00000363920:R1170C;ENSP00000340591:R1136C;ENSP00000363926:R1061C;ENSP00000311986:R1127C;ENSP00000363922:R1113C	ENSP00000340591:R1136C	R	-	1	0	PARD3	34460429	1.000000	0.71417	0.634000	0.29324	0.752000	0.42762	4.226000	0.58606	1.338000	0.45544	0.557000	0.71058	CGT	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047527.1		-	ENST00000374789.3	Missense_Mutation	SNP	10 : 34420423 - 34420423 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	401	17
SEMA6C	10500	broad.mit.edu	37	1	151115025	151115025	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151115025C>T	ENST00000341697.3	-	3	1764	c.73G>A	c.(73-75)Gcc>Acc	p.A25T				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	25						integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGGGGAAAGGCGGCCTGAGTA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	52	54	53		73,73,73	0.4	0.5	1		53	0,8600		0,0,4300	no	missense,missense,missense	SEMA6C	NM_001178061.1,NM_001178062.1,NM_030913.4	58,58,58	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	benign,benign,benign	25/963,25/923,25/931	151115025	1,13005	2203	4300	6503	SO:0001583	missense			AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434	10500	10500		Semaphorins	10740	protein-coding gene	gene with protein product	m-Sema Y2	609294			NA	12110693	Standard	NM_030913	NM_030913	NA	Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.73G>A	1.37:g.151115025C>T	ENSP00000344148:p.Ala25Thr	NA	D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	37	CCDS984.1	.	.	.	.	.	.	.	.	.	.	C	9.631	1.136424	0.21123	2.27E-4	0.0	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697;ENST00000392792	T;T;T;T	0.18657	2.2;2.42;2.23;2.2	4.69	0.448	0.16614	.	0.900793	0.09727	N	0.763666	T	0.02848	0.0085	N	0.12182	0.205	0.20074	N	0.999937	B;B;B;B	0.31817	0.011;0.341;0.076;0.066	B;B;B;B	0.19148	0.006;0.024;0.021;0.01	T	0.40553	-0.9557	10	0.40728	T	0.16	.	6.1663	0.20392	0.0:0.5412:0.0:0.4588	.	25;25;25;25	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	T	25	ENSP00000357910:A25T;ENSP00000357908:A25T;ENSP00000357909:A25T;ENSP00000344148:A25T	ENSP00000344148:A25T	A	-	1	0	SEMA6C	149381649	0.057000	0.20700	0.453000	0.27007	0.785000	0.44390	0.048000	0.14078	0.231000	0.21079	0.462000	0.41574	GCC	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034074.1		-	ENST00000341697.3	Missense_Mutation	SNP	1 : 151115025 - 151115025 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	42
FETUB	26998	broad.mit.edu	37	3	186358424	186358424	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186358424G>C	ENST00000382134.3	+	1	276	c.175G>C	c.(175-177)Ggc>Cgc	p.G59R	FETUB_ENST00000265029.3_Missense_Mutation_p.G59R|FETUB_ENST00000450521.1_Missense_Mutation_p.G59R|FETUB_ENST00000382136.3_Missense_Mutation_p.G59R|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000539949.1_Intron			Q9UGM5	FETUB_HUMAN	fetuin B	59	Cystatin fetuin-B-type 1.					extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CAGAAAGGATGGCTATGTGCT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	167	163			NA	NA	3		NA											NA				186358424		2203	4300	6503	SO:0001583	missense			AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512	26998	26998			3658	protein-coding gene	gene with protein product		605954			NA	10947975	Standard	NM_014375	XM_005247350	NA	Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000382134.3:c.175G>C	3.37:g.186358424G>C	ENSP00000371569:p.Gly59Arg	NA	B2RCW6|Q1RMZ0|Q6DK58|Q6GRB6|Q9Y6Z0	37		.	.	.	.	.	.	.	.	.	.	G	23.0	4.367130	0.82463	.	.	ENSG00000090512	ENST00000450521;ENST00000265029;ENST00000382134;ENST00000382136	T;T;T;T	0.51817	1.6;1.6;0.69;0.69	5.26	5.26	0.73747	Proteinase inhibitor I25C, fetuin, conserved site (1);Proteinase inhibitor I25, cystatin (2);	0.000000	0.64402	D	0.000008	T	0.74749	0.3757	M	0.91717	3.235	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.80025	-0.1555	10	0.87932	D	0	-32.4386	15.109	0.72340	0.0:0.0:1.0:0.0	.	59;59;59	E9PG06;E9PG08;Q9UGM5	.;.;FETUB_HUMAN	R	59	ENSP00000404288:G59R;ENSP00000265029:G59R;ENSP00000371569:G59R;ENSP00000371571:G59R	ENSP00000265029:G59R	G	+	1	0	FETUB	187841118	1.000000	0.71417	0.975000	0.42487	0.969000	0.65631	4.938000	0.63519	2.840000	0.97914	0.655000	0.94253	GGC	FETUB-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000344682.1		+	ENST00000382134.3	Missense_Mutation	SNP	3 : 186358424 - 186358424 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1395	261
RAI1	10743	broad.mit.edu	37	17	17700424	17700424	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17700424G>A	ENST00000353383.1	+	3	4631	c.4162G>A	c.(4162-4164)Ggg>Agg	p.G1388R	RAI1_ENST00000261641.6_Missense_Mutation_p.G1388R	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1388						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TGTGGGCACCGGGCAGAAGCT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	84	82			NA	NA	17		NA											NA				17700424		2203	4300	6503	SO:0001583	missense			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557	10743	10743			9834	protein-coding gene	gene with protein product		607642	Smith-Magenis syndrome chromosome region	SMCR	NA	10036180	Standard	NM_030665	NM_030665	NA	Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.4162G>A	17.37:g.17700424G>A	ENSP00000323074:p.Gly1388Arg	NA	Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	37	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459148	0.43634	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000261641;ENST00000315321	T;T	0.69040	-0.37;0.2	5.09	4.12	0.48240	.	0.395398	0.23748	N	0.044943	T	0.61726	0.2370	L	0.51422	1.61	0.34082	D	0.659737	D	0.60160	0.987	P	0.45377	0.478	T	0.73404	-0.3993	10	0.66056	D	0.02	.	9.2067	0.37293	0.077:0.0:0.7775:0.1455	.	1388	Q7Z5J4	RAI1_HUMAN	R	1388;1388;1388;1340	ENSP00000323074:G1388R;ENSP00000261641:G1388R	ENSP00000261641:G1388R	G	+	1	0	RAI1	17641149	0.998000	0.40836	0.946000	0.38457	0.577000	0.36160	3.398000	0.52579	1.130000	0.42092	0.462000	0.41574	GGG	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131775.1		+	ENST00000353383.1	Missense_Mutation	SNP	17 : 17700424 - 17700424 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	646	100
EEFSEC	60678	broad.mit.edu	37	3	128126977	128126977	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128126977C>T	ENST00000254730.6	+	7	1720	c.1666C>T	c.(1666-1668)Cgt>Tgt	p.R556C	EEFSEC_ENST00000483457.1_3'UTR	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	556						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CCGGGCTGGCCGTGGGGAGGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	45	46			NA	NA	3		NA											NA				128126977		2203	4299	6502	SO:0001583	missense				CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394	60678	60678			24614	protein-coding gene	gene with protein product	elongation factor for selenoprotein translation	607695			NA	10970870, 15229221	Standard	NM_021937	XM_005247696	NA	Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.1666C>T	3.37:g.128126977C>T	ENSP00000254730:p.Arg556Cys	NA		37	CCDS33849.1	.	.	.	.	.	.	.	.	.	.	C	9.415	1.081652	0.20309	.	.	ENSG00000132394	ENST00000254730	T	0.51071	0.72	4.8	2.74	0.32292	.	0.390062	0.27460	N	0.019265	T	0.27098	0.0664	N	0.22421	0.69	0.26590	N	0.973224	P	0.51653	0.947	B	0.34452	0.183	T	0.20042	-1.0287	10	0.72032	D	0.01	-9.3772	10.2348	0.43277	0.5808:0.4192:0.0:0.0	.	556	P57772	SELB_HUMAN	C	556	ENSP00000254730:R556C	ENSP00000254730:R556C	R	+	1	0	EEFSEC	129609667	0.981000	0.34729	0.106000	0.21319	0.066000	0.16364	0.969000	0.29370	0.980000	0.38523	0.467000	0.42956	CGT	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356738.2		+	ENST00000254730.6	Missense_Mutation	SNP	3 : 128126977 - 128126977 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	224	11
TSC22D3	1831	broad.mit.edu	37	X	106957916	106957916	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:106957916T>G	ENST00000372383.4	-	3	803	c.436A>C	c.(436-438)Atc>Ctc	p.I146L	TSC22D3_ENST00000372382.4_Missense_Mutation_p.I56L|TSC22D3_ENST00000506081.1_Missense_Mutation_p.I146L|TSC22D3_ENST00000372397.2_Missense_Mutation_p.I80L|TSC22D3_ENST00000372384.2_Missense_Mutation_p.I146L|TSC22D3_ENST00000514426.1_Missense_Mutation_p.I78L|TSC22D3_ENST00000315660.4_Missense_Mutation_p.I146L|TSC22D3_ENST00000372390.4_Missense_Mutation_p.I23L	NM_198057.2	NP_932174.1	Q99576	T22D3_HUMAN	TSC22 domain family, member 3	80							sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)|lung(3)	6						AGCTCTCGGATCTGCTCCTTC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													177	156	163			NA	NA	X		NA											NA				106957916		2203	4300	6503	SO:0001583	missense			Z50781	CCDS14530.1, CCDS14531.1, CCDS35365.1	Xq22.3	2008-02-15	2005-03-01	2005-03-03	ENSG00000157514	ENSG00000157514	1831	1831			3051	protein-coding gene	gene with protein product	glucocorticoid-induced leucine zipper	300506	delta sleep inducing peptide, immunoreactor	DSIPI	NA	8982256	Standard	NM_198057	XM_005262098	NA	Approved	DIP, GILZ, TSC-22R, hDIP	uc004enh.3	Q99576	OTTHUMG00000022168	ENST00000372383.4:c.436A>C	X.37:g.106957916T>G	ENSP00000361458:p.Ile146Leu	NA	Q5H9S3|Q5JRI9|Q6FIH6|Q8NAI1|Q8WVB9|Q9UBN5|Q9UG13	37	CCDS14530.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.482291	0.84747	.	.	ENSG00000157514	ENST00000372390;ENST00000372397;ENST00000315660;ENST00000372383;ENST00000372384;ENST00000394928;ENST00000372382;ENST00000506081;ENST00000514426;ENST00000486554	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.80949	0.4722	M	0.87900	2.915	0.80722	D	1	D;D	0.71674	0.977;0.998	D;D	0.87578	0.949;0.998	D	0.84334	0.0523	9	0.87932	D	0	-12.8729	12.659	0.56803	0.0:0.0:0.0:1.0	.	146;80	Q99576-3;Q99576	.;T22D3_HUMAN	L	23;80;146;146;146;125;56;146;78;23	.	ENSP00000314655:I146L	I	-	1	0	TSC22D3	106844572	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.020000	0.88740	1.965000	0.57142	0.486000	0.48141	ATC	TSC22D3-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057846.2		-	ENST00000372383.4	Missense_Mutation	SNP	X : 106957916 - 106957916 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	756	183
PAPPA2	60676	broad.mit.edu	37	1	176769219	176769219	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176769219G>A	ENST00000367662.3	+	21	6317	c.5153G>A	c.(5152-5154)cGt>cAt	p.R1718H		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1718	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.R1718H(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACTGGCCGGCGTCAATGGCAC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											133	129	131			NA	NA	1		NA											NA				176769219		1935	4140	6075	SO:0001583	missense			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183	60676	60676			14615	protein-coding gene	gene with protein product			placenta-specific 3	PLAC3	NA	11018262, 11264294	Standard		NM_021936	NA	Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.5153G>A	1.37:g.176769219G>A	ENSP00000356634:p.Arg1718His	NA	Q96PH7|Q96PH8|Q9H4C9	37	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.330450	0.60743	.	.	ENSG00000116183	ENST00000367662	T	0.01705	4.68	6.02	3.07	0.35406	.	0.289113	0.33092	N	0.005285	T	0.04048	0.0113	L	0.51422	1.61	0.09310	N	0.999999	D	0.76494	0.999	P	0.58210	0.835	T	0.36286	-0.9754	10	0.38643	T	0.18	-9.571	5.7732	0.18265	0.1489:0.0:0.6041:0.247	.	1718	Q9BXP8	PAPP2_HUMAN	H	1718	ENSP00000356634:R1718H	ENSP00000356634:R1718H	R	+	2	0	PAPPA2	175035842	0.007000	0.16637	0.443000	0.26883	0.918000	0.54935	1.478000	0.35442	0.897000	0.36392	-0.122000	0.15005	CGT	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084763.1		+	ENST00000367662.3	Missense_Mutation	SNP	1 : 176769219 - 176769219 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	732	30
ADD2	119	broad.mit.edu	37	2	70904002	70904002	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70904002G>A	ENST00000264436.4	-	13	1963	c.1519C>T	c.(1519-1521)Cga>Tga	p.R507*	ADD2_ENST00000407644.2_Nonsense_Mutation_p.R507*|ADD2_ENST00000430656.1_Nonsense_Mutation_p.R523*|ADD2_ENST00000413157.2_Nonsense_Mutation_p.R507*|ADD2_ENST00000355733.3_Nonsense_Mutation_p.R507*	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	NA					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						ACATCTTGTCGGTTTTGTTCT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	68	67			NA	NA	2		NA											NA				70904002		2203	4300	6503	SO:0001587	stop_gained			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340	119	119			244	protein-coding gene	gene with protein product		102681			NA	1840603	Standard	NM_001617	NM_001617	NA	Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1519C>T	2.37:g.70904002G>A	ENSP00000264436:p.Arg507*	NA	A8K4P2|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	37	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	G	43	9.987657	0.99312	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000355733;ENST00000522886;ENST00000356565;ENST00000517596;ENST00000413157;ENST00000430656	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-8.2811	16.036	0.80628	0.0:0.0:1.0:0.0	.	.	.	.	X	507;507;507;201;507;201;507;523	.	ENSP00000264436:R507X	R	-	1	2	ADD2	70757510	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.946000	0.92992	2.646000	0.89796	0.655000	0.94253	CGA	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251918.4		-	ENST00000264436.4	Nonsense_Mutation	SNP	2 : 70904002 - 70904002 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	522	103
CCDC14	64770	broad.mit.edu	37	3	123665936	123665936	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123665936T>C	ENST00000485727.1	-	4	5051	c.459A>G	c.(457-459)acA>acG	p.T153T	CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000310351.4_Silent_p.T193T|CCDC14_ENST00000433542.2_Silent_p.T312T|CCDC14_ENST00000488653.2_Silent_p.T353T|CCDC14_ENST00000489746.1_Silent_p.T153T			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	353						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		GAGACAAATATGTTTGAATAC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	163	167			NA	NA	3		NA											NA				123665936		2203	4300	6503	SO:0001819	synonymous_variant			AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455	64770	64770			25766	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_022757	NM_022757	NA	Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000485727.1:c.459A>G	3.37:g.123665936T>C		NA	B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	37																																																																																				CCDC14-022	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000356462.1		-	ENST00000485727.1	Silent	SNP	3 : 123665936 - 123665936 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	653	104
MYRF	745	broad.mit.edu	37	11	61543861	61543861	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61543861G>A	ENST00000278836.5	+	10	1552	c.1456G>A	c.(1456-1458)Gct>Act	p.A486T	MYRF_ENST00000265460.5_Missense_Mutation_p.A477T|MYRF_ENST00000327797.1_Missense_Mutation_p.A111T|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1			myelin regulatory factor	NA											NA						CGAGACCACCGCTAACAACAT	0.642		NA									OREG0021012	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	26	26			NA	NA	11		NA											NA				61543861		2202	4299	6501	SO:0001583	missense				CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920	745	745			1181	protein-coding gene	gene with protein product	myelin gene regulatory factor	608329	chromosome 11 open reading frame 9	C11orf9	NA	10828591, 12384578	Standard	NM_013279	NM_001127392	NA	Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.1456G>A	11.37:g.61543861G>A	ENSP00000278836:p.Ala486Thr	1054		37	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	G	31	5.087096	0.94100	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000327797	T;T;T	0.51071	1.25;1.25;0.72	4.57	3.64	0.41730	NDT80 DNA-binding domain (3);p53-like transcription factor, DNA-binding (1);	0.115700	0.56097	D	0.000021	T	0.65344	0.2682	M	0.73753	2.245	0.58432	D	0.999998	D;D	0.65815	0.995;0.977	D;P	0.64687	0.928;0.701	T	0.68010	-0.5522	10	0.48119	T	0.1	-21.0715	14.1629	0.65457	0.0:0.0:0.8487:0.1513	.	477;486	Q9Y2G1-2;Q9Y2G1	.;MRF_HUMAN	T	486;477;111	ENSP00000278836:A486T;ENSP00000265460:A477T;ENSP00000333261:A111T	ENSP00000265460:A477T	A	+	1	0	C11orf9	61300437	1.000000	0.71417	0.736000	0.30914	0.946000	0.59487	9.416000	0.97383	1.026000	0.39733	0.455000	0.32223	GCT	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398519.2		+	ENST00000278836.5	Missense_Mutation	SNP	11 : 61543861 - 61543861 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	196	38
PARD3B	117583	broad.mit.edu	37	2	205983693	205983693	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:205983693G>A	ENST00000406610.2	+	7	936	c.729G>A	c.(727-729)aaG>aaA	p.K243K	PARD3B_ENST00000349953.3_Silent_p.K243K|PARD3B_ENST00000358768.2_Silent_p.K243K|PARD3B_ENST00000351153.1_Silent_p.K243K|PARD3B_ENST00000462231.1_Silent_p.K243K	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	243	PDZ 1.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GCAGGTCCAAGCGGGAGGGAC	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	88	89			NA	NA	2		NA											NA				205983693		1856	4097	5953	SO:0001819	synonymous_variant			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117	117583	117583			14446	protein-coding gene	gene with protein product			amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19, par-3 partitioning defective 3 homolog B (C. elegans)	ALS2CR19	NA	11586298, 12459187	Standard	NM_057177	NM_057177	NA	Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.729G>A	2.37:g.205983693G>A		NA	Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	37																																																																																				PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000335992.1		+	ENST00000406610.2	Silent	SNP	2 : 205983693 - 205983693 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	448	74
RUVBL2	10856	broad.mit.edu	37	19	49507607	49507607	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49507607G>T	ENST00000595090.1	+	4	661	c.197G>T	c.(196-198)gGg>gTg	p.G66V	RUVBL2_ENST00000413176.2_Missense_Mutation_p.G21V|RUVBL2_ENST00000601968.1_Missense_Mutation_p.G21V	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	66					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		ATCCGGGAAGGGAAGATTGCC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	56	54			NA	NA	19		NA											NA				49507607		1966	4136	6102	SO:0001583	missense			AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12				10856	10856		INO80 complex subunits, ATPases / AAA-type	10475	protein-coding gene	gene with protein product	reptin, INO80 complex subunit J	604788	RuvB (E coli homolog)-like 2, RuvB-like 2 (E. coli)		NA	10428817, 10998447	Standard		XM_005258426	NA	Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.197G>T	19.37:g.49507607G>T	ENSP00000473172:p.Gly66Val	NA	Q6FIB9|Q6PK27|Q9Y361	37	CCDS42588.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871445	0.91587	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T;T	0.51325	0.71;0.8	4.74	4.74	0.60224	TIP49, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80042	0.4551	H	0.98089	4.145	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.997	D;D;D	0.81914	0.995;0.978;0.981	D	0.87759	0.2597	10	0.87932	D	0	-53.1308	15.594	0.76562	0.0:0.0:1.0:0.0	.	66;66;32	B4DW30;Q9Y230;B3KNL2	.;RUVB2_HUMAN;.	V	66;21	ENSP00000221413:G66V;ENSP00000413890:G21V	ENSP00000221413:G66V	G	+	2	0	RUVBL2	54199419	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.639000	0.91023	2.366000	0.80165	0.561000	0.74099	GGG	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466235.1		+	ENST00000595090.1	Missense_Mutation	SNP	19 : 49507607 - 49507607 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	580	99
EED	8726	broad.mit.edu	37	11	85988058	85988058	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85988058A>C	ENST00000528180.1	+	8	1240	c.763A>C	c.(763-765)Aag>Cag	p.K255Q	EED_ENST00000263360.6_Missense_Mutation_p.K335Q|EED_ENST00000327320.4_Missense_Mutation_p.K335Q|EED_ENST00000351625.6_Missense_Mutation_p.K360Q|EED_ENST00000527888.1_5'UTR			O75530	EED_HUMAN	embryonic ectoderm development	335	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				GAAACCTGGCAAGATGGAAGA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	98	98			NA	NA	11		NA											NA				85988058		2202	4299	6501	SO:0001583	missense			AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266	8726	8726		WD repeat domain containing	3188	protein-coding gene	gene with protein product	WD protein associating with integrin cytoplasmic tails 1	605984			NA	9765275, 9806832	Standard	NM_003797	NM_003797	NA	Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000528180.1:c.763A>C	11.37:g.85988058A>C	ENSP00000431778:p.Lys255Gln	NA	A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	37		.	.	.	.	.	.	.	.	.	.	A	13.63	2.294009	0.40594	.	.	ENSG00000074266	ENST00000263360;ENST00000528180;ENST00000351625;ENST00000327320;ENST00000534564	T;T;T;T	0.53206	0.63;1.57;0.63;0.63	5.74	5.74	0.90152	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.050105	0.85682	D	0.000000	T	0.29850	0.0746	N	0.11364	0.135	0.80722	D	1	B;B;B;B	0.23735	0.0;0.09;0.006;0.0	B;B;B;B	0.19391	0.0;0.015;0.025;0.0	T	0.12528	-1.0544	9	.	.	.	-15.9168	16.0343	0.80612	1.0:0.0:0.0:0.0	.	335;255;360;335	O75530-3;E9PJK2;O75530-2;O75530	.;.;.;EED_HUMAN	Q	335;255;360;335;84	ENSP00000263360:K335Q;ENSP00000431778:K255Q;ENSP00000338186:K360Q;ENSP00000315587:K335Q	.	K	+	1	0	EED	85665706	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.875000	0.75551	2.198000	0.70561	0.533000	0.62120	AAG	EED-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000393734.1		+	ENST00000528180.1	Missense_Mutation	SNP	11 : 85988058 - 85988058 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	278	12
GPR179	440435	broad.mit.edu	37	17	36484336	36484336	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:36484336G>T	ENST00000342292.4	-	11	5136	c.5116C>A	c.(5116-5118)Ccc>Acc	p.P1706T	GPR179_ENST00000584976.1_5'UTR	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1706						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ACCTCCCAGGGACAGATTTCT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	80	79			NA	NA	17		NA											NA				36484336		1938	4145	6083	SO:0001583	missense				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399	440435	440435		GPCR / Class C : Orphans	31371	protein-coding gene	gene with protein product		614515	GPR158-like 1, GPR179	GPR158L1	NA		Standard		NM_001004334	NA	Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.5116C>A	17.37:g.36484336G>T	ENSP00000345060:p.Pro1706Thr	NA		37	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352287	0.61293	.	.	ENSG00000188888	ENST00000342292	T	0.55930	0.49	5.13	1.97	0.26223	.	0.186936	0.26556	N	0.023703	T	0.60483	0.2272	M	0.72118	2.19	0.31653	N	0.646498	D	0.76494	0.999	P	0.62560	0.904	T	0.63699	-0.6578	10	0.66056	D	0.02	-9.0742	3.3315	0.07085	0.0939:0.1703:0.5596:0.1761	.	1706	Q6PRD1	GP179_HUMAN	T	1706	ENSP00000345060:P1706T	ENSP00000345060:P1706T	P	-	1	0	GPR179	33737862	1.000000	0.71417	0.996000	0.52242	0.933000	0.57130	2.563000	0.45922	1.386000	0.46466	0.655000	0.94253	CCC	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255329.2		-	ENST00000342292.4	Missense_Mutation	SNP	17 : 36484336 - 36484336 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	655	121
GAS8	2622	broad.mit.edu	37	16	90102049	90102049	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90102049C>T	ENST00000268699.4	+	5	626	c.504C>T	c.(502-504)acC>acT	p.T168T	GAS8_ENST00000536122.1_Silent_p.T143T|GAS8_ENST00000540721.1_3'UTR	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	168	Microtubule-binding.				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		AGAAACACACCGAGGAGATCA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													191	152	165			NA	NA	16		NA											NA				90102049		2198	4300	6498	SO:0001819	synonymous_variant			AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013	2622	2622			4166	protein-coding gene	gene with protein product		605178	growth arrest-specific 11	GAS11	NA	9790751	Standard		NM_001481	NA	Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.504C>T	16.37:g.90102049C>T		NA	B2RCT1|Q2M234	37	CCDS10992.1																																																																																			GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000272877.2		+	ENST00000268699.4	Silent	SNP	16 : 90102049 - 90102049 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	663	110
EYA4	2070	broad.mit.edu	37	6	133844298	133844298	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:133844298A>G	ENST00000452339.2	+	17	2115	c.1559A>G	c.(1558-1560)tAc>tGc	p.Y520C	EYA4_ENST00000355286.6_Missense_Mutation_p.Y551C|EYA4_ENST00000531901.1_Missense_Mutation_p.Y580C|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000355167.3_Missense_Mutation_p.Y574C|EYA4_ENST00000525849.1_Missense_Mutation_p.Y551C|EYA4_ENST00000430974.2_Missense_Mutation_p.Y526C|EYA4_ENST00000367895.5_Missense_Mutation_p.Y574C|EYA4_ENST00000431403.2_Missense_Mutation_p.Y574C			O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	574					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GAGAATATTTACAGTGCAACT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(57;398 1237 3528 4702 7415)							NA				0													117	117	117			NA	NA	6		NA											NA				133844298		2203	4300	6503	SO:0001583	missense			Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319	2070	2070		Protein tyrosine phosphatases / Asp-based PTPs	3522	protein-coding gene	gene with protein product		603550	eyes absent (Drosophila) homolog 4, eyes absent homolog 4 (Drosophila)	DFNA10, CMD1J	NA	9887327, 11159937	Standard	NM_004100	NM_004100	NA	Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000452339.2:c.1559A>G	6.37:g.133844298A>G	ENSP00000395916:p.Tyr520Cys	NA	O95464|O95679|Q8IW39|Q9NTR7	37		.	.	.	.	.	.	.	.	.	.	A	23.2	4.390054	0.82902	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	D;D;D;D;D;D;D;D	0.97553	-4.43;-4.19;-4.31;-4.43;-4.27;-4.43;-4.43;-4.43	6.16	6.16	0.99307	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.98535	0.9511	M	0.87547	2.89	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.99741	1.1015	10	0.87932	D	0	-11.9122	16.8061	0.85666	1.0:0.0:0.0:0.0	.	580;526;520;551;574;574	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	C	520;526;574;574;551;580;551;574	ENSP00000395916:Y520C;ENSP00000388670:Y526C;ENSP00000356870:Y574C;ENSP00000347294:Y574C;ENSP00000347434:Y551C;ENSP00000432770:Y580C;ENSP00000433219:Y551C;ENSP00000404558:Y574C	ENSP00000347294:Y574C	Y	+	2	0	EYA4	133885991	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.367000	0.80283	0.528000	0.53228	TAC	EYA4-006	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000391009.1		+	ENST00000452339.2	Missense_Mutation	SNP	6 : 133844298 - 133844298 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	638	118
SLC12A5	57468	broad.mit.edu	37	20	44671916	44671916	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44671916C>A	ENST00000243964.3	+	9	1289	c.1191C>A	c.(1189-1191)acC>acA	p.T397T	SLC12A5_ENST00000454036.2_Silent_p.T420T	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	420					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTGATATGACCTCCTACTTCA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													297	251	266			NA	NA	20		NA											NA				44671916		2203	4300	6503	SO:0001819	synonymous_variant			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140	57468	57468		Solute carriers	13818	protein-coding gene	gene with protein product		606726			NA		Standard		NM_020708	NA	Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000243964.3:c.1191C>A	20.37:g.44671916C>A		NA	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	37	CCDS13391.1																																																																																			SLC12A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079558.2		+	ENST00000243964.3	Silent	SNP	20 : 44671916 - 44671916 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1619	272
ZNF543	125919	broad.mit.edu	37	19	57840074	57840074	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57840074G>A	ENST00000321545.4	+	4	1589	c.1244G>A	c.(1243-1245)cGg>cAg	p.R415Q		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CAGCATCAACGGATTCACACT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	75	83			NA	NA	19		NA											NA				57840074		2203	4300	6503	SO:0001583	missense			AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229	125919	125919		Zinc fingers, C2H2-type, -	25281	protein-coding gene	gene with protein product					NA		Standard	XM_064865	NM_213598	NA	Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.1244G>A	19.37:g.57840074G>A	ENSP00000322545:p.Arg415Gln	NA	Q495U9|Q495V0|Q6ZMP4|Q8NCX4	37	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274758	0.40194	.	.	ENSG00000178229	ENST00000321545	T	0.24723	1.84	2.89	1.81	0.25067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34861	0.0912	L	0.38692	1.165	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.09530	-1.0670	9	0.87932	D	0	.	5.2016	0.15267	0.1188:0.0:0.6736:0.2076	.	415	Q08ER8	ZN543_HUMAN	Q	415	ENSP00000322545:R415Q	ENSP00000322545:R415Q	R	+	2	0	ZNF543	62531886	0.000000	0.05858	0.172000	0.22920	0.509000	0.34042	-0.031000	0.12287	0.510000	0.28216	-0.310000	0.09108	CGG	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465780.1		+	ENST00000321545.4	Missense_Mutation	SNP	19 : 57840074 - 57840074 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	324	54
DYNC1H1	1778	broad.mit.edu	37	14	102514985	102514985	+	Silent	SNP	C	C	T	rs1127284		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102514985C>T	ENST00000360184.4	+	74	13515	c.13351C>T	c.(13351-13353)Ctg>Ttg	p.L4451L	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4451					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTTGCGCACGCTGATCAACGA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	74	79			NA	NA	14		NA											NA				102514985		2203	4300	6503	SO:0001819	synonymous_variant			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102	1778	1778		Cytoplasmic dyneins	2961	protein-coding gene	gene with protein product		600112	dynein, cytoplasmic, heavy polypeptide 1	DNECL, DNCL, DNCH1	NA	16260502, 8666668	Standard	NM_001376	NM_001376	NA	Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.13351C>T	14.37:g.102514985C>T		NA	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	37	CCDS9966.1																																																																																			DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414574.1		+	ENST00000360184.4	Silent	SNP	14 : 102514985 - 102514985 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	213	35
PSMC4	5704	broad.mit.edu	37	19	40480536	40480536	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40480536A>G	ENST00000157812.2	+	5	773	c.575A>G	c.(574-576)aAg>aGg	p.K192R	PSMC4_ENST00000455878.2_Missense_Mutation_p.K161R	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	192					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GAGCTCTACAAGCAGGTGAGG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(105;1478 1543 4034 6132 38638)							NA				0													49	53	51			NA	NA	19		NA											NA				40480536		2203	4300	6503	SO:0001583	missense			U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275	5704	5704		Proteasome (prosome, macropain) subunits, ATPases / AAA-type	9551	protein-coding gene	gene with protein product	protease 26S subunit 6, Tat-binding protein 7, MB67 interacting protein	602707		MIP224	NA	9473509, 8603043	Standard	NM_006503	NM_006503	NA	Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.575A>G	19.37:g.40480536A>G	ENSP00000157812:p.Lys192Arg	NA	Q96FV5|Q9UBM3|Q9UEX3	37	CCDS12547.1	.	.	.	.	.	.	.	.	.	.	a	15.76	2.927663	0.52759	.	.	ENSG00000013275	ENST00000157812;ENST00000455878	D;D	0.94897	-3.55;-3.55	5.19	5.19	0.71726	.	0.047137	0.85682	D	0.000000	D	0.88001	0.6320	N	0.11845	0.185	0.58432	D	0.999995	B;B	0.10296	0.001;0.003	B;B	0.10450	0.005;0.003	D	0.83962	0.0322	10	0.39692	T	0.17	-7.8807	12.9876	0.58599	1.0:0.0:0.0:0.0	.	161;192	P43686-2;P43686	.;PRS6B_HUMAN	R	192;161	ENSP00000157812:K192R;ENSP00000413869:K161R	ENSP00000157812:K192R	K	+	2	0	PSMC4	45172376	1.000000	0.71417	0.900000	0.35374	0.768000	0.43524	8.970000	0.93415	1.948000	0.56530	0.402000	0.26972	AAG	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462485.1		+	ENST00000157812.2	Missense_Mutation	SNP	19 : 40480536 - 40480536 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	59
MTCH2	23788	broad.mit.edu	37	11	47644304	47644304	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47644304G>T	ENST00000302503.3	-	12	931	c.774C>A	c.(772-774)taC>taA	p.Y258*	MTCH2_ENST00000542981.1_Nonsense_Mutation_p.Y110*|MTCH2_ENST00000534074.1_5'UTR	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	258					transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						ATATTGGGGAGTAAGGAGGGC	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	65	67			NA	NA	11		NA											NA				47644304		2201	4297	6498	SO:0001587	stop_gained			AF085361	CCDS7943.1	11p11.2	2013-05-22	2011-05-19		ENSG00000109919	ENSG00000109919	23788	23788		Solute carriers	17587	protein-coding gene	gene with protein product	solute carrier family 25, member 50	613221	mitochondrial carrier homolog 2 (C. elegans)		NA		Standard	NM_014342	NM_014342	NA	Approved	SLC25A50	uc010rho.2	Q9Y6C9	OTTHUMG00000166926	ENST00000302503.3:c.774C>A	11.37:g.47644304G>T	ENSP00000303222:p.Tyr258*	NA	B2R7L8	37	CCDS7943.1	.	.	.	.	.	.	.	.	.	.	G	36	5.637882	0.96693	.	.	ENSG00000109919	ENST00000302503;ENST00000542981;ENST00000530428	.	.	.	5.82	1.34	0.21922	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8946	6.5142	0.22239	0.4954:0.0:0.5046:0.0	.	.	.	.	X	258;110;249	.	ENSP00000303222:Y258X	Y	-	3	2	MTCH2	47600880	0.988000	0.35896	1.000000	0.80357	0.970000	0.65996	0.071000	0.14594	0.376000	0.24707	0.561000	0.74099	TAC	MTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391921.2		-	ENST00000302503.3	Nonsense_Mutation	SNP	11 : 47644304 - 47644304 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	245	42
MAGI2	9863	broad.mit.edu	37	7	77973256	77973256	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77973256T>C	ENST00000354212.4	-	9	1500	c.1247A>G	c.(1246-1248)gAt>gGt	p.D416G	MAGI2_ENST00000522391.1_Missense_Mutation_p.D416G|MAGI2_ENST00000419488.1_Missense_Mutation_p.D416G|MAGI2_ENST00000536571.1_Missense_Mutation_p.D248G|MAGI2_ENST00000535697.1_Missense_Mutation_p.D253G	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	416						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTGGGATGCATCCCGGGTGAA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	84	90			NA	NA	7		NA											NA				77973256		2203	4300	6503	SO:0001583	missense			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391	9863	9863			18957	protein-coding gene	gene with protein product		606382			NA	10681527, 9734811	Standard	NM_012301	XM_005250725	NA	Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1247A>G	7.37:g.77973256T>C	ENSP00000346151:p.Asp416Gly	NA	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	37	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.667297	0.88348	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.91	5.91	0.95273	PDZ/DHR/GLGF (1);	0.000000	0.37577	U	0.002025	T	0.63474	0.2514	M	0.67397	2.05	0.80722	D	1	D;P;P;P;D;D	0.76494	0.998;0.615;0.942;0.942;0.999;0.977	D;P;P;P;D;D	0.81914	0.991;0.703;0.862;0.862;0.995;0.991	T	0.66240	-0.5973	10	0.72032	D	0.01	.	15.5295	0.75942	0.0:0.0:0.0:1.0	.	253;248;416;416;416;416	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	G	416;416;416;416;248;253	ENSP00000405766:D416G;ENSP00000346151:D416G;ENSP00000428389:D416G;ENSP00000441584:D248G;ENSP00000441603:D253G	ENSP00000346151:D416G	D	-	2	0	MAGI2	77811192	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.254000	0.74563	0.533000	0.62120	GAT	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253197.3		-	ENST00000354212.4	Missense_Mutation	SNP	7 : 77973256 - 77973256 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	341	15
TRRAP	8295	broad.mit.edu	37	7	98588118	98588118	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98588118T>C	ENST00000446306.3	+	61	9618	c.9557T>C	c.(9556-9558)tTg>tCg	p.L3186S	TRRAP_ENST00000355540.3_Missense_Mutation_p.L3186S|TRRAP_ENST00000359863.4_Missense_Mutation_p.L3215S			Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3215	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAAAACACTTTGGCAGATGCC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	102	105			NA	NA	7		NA											NA				98588118		2203	4300	6503	SO:0001583	missense			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367	8295	8295			12347	protein-coding gene	gene with protein product		603015			NA	9708738, 9885574	Standard	NM_003496	NM_003496	NA	Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000446306.3:c.9557T>C	7.37:g.98588118T>C	ENSP00000403708:p.Leu3186Ser	NA	A4D265|O75218|Q9Y631|Q9Y6H4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.7|26.7	4.764004|4.764004	0.89932|0.89932	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.04275|.	3.66;3.66|.	5.67|5.67	5.67|5.67	0.87782|0.87782	PIK-related kinase (1);|.	0.000000|.	0.64402|.	D|.	0.000002|.	D|D	0.84656|0.84656	0.5520|0.5520	M|M	0.91406|0.91406	3.205|3.205	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.997;0.997|.	D;D;D|.	0.76071|.	0.987;0.944;0.944|.	D|D	0.88106|0.88106	0.2822|0.2822	10|5	0.87932|.	D|.	0|.	.|.	15.9056|15.9056	0.79427|0.79427	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	3186;2925;3215|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	S|R	3215;3186;3185|2926	ENSP00000352925:L3215S;ENSP00000347733:L3186S|.	ENSP00000347733:L3186S|.	L|W	+|+	2|1	0|0	TRRAP|TRRAP	98426054|98426054	1.000000|1.000000	0.71417|0.71417	0.922000|0.922000	0.36590|0.36590	0.998000|0.998000	0.95712|0.95712	8.040000|8.040000	0.89188|0.89188	2.157000|2.157000	0.67596|0.67596	0.533000|0.533000	0.62120|0.62120	TTG|TGG	TRRAP-004	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000317981.3		+	ENST00000446306.3	Missense_Mutation	SNP	7 : 98588118 - 98588118 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	498	97
SYCP2	10388	broad.mit.edu	37	20	58439431	58439431	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58439431G>A	ENST00000357552.3	-	45	4753	c.4528C>T	c.(4528-4530)Ctt>Ttt	p.L1510F	SYCP2_ENST00000371001.2_Missense_Mutation_p.L1510F			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1510					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ACATTAAGAAGCTCCTCTTCT	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	55	56			NA	NA	20		NA											NA				58439431		2201	4291	6492	SO:0001583	missense			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074	10388	10388			11490	protein-coding gene	gene with protein product		604105			NA	10341103, 9592139	Standard	NM_014258	NM_014258	NA	Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.4528C>T	20.37:g.58439431G>A	ENSP00000350162:p.Leu1510Phe	NA	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	37	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258119	0.59321	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000412613	T;T	0.27104	1.69;1.69	5.31	2.07	0.26955	.	0.237603	0.29767	N	0.011253	T	0.40546	0.1121	L	0.59436	1.845	0.33681	D	0.612099	D	0.67145	0.996	D	0.67725	0.953	T	0.53760	-0.8393	10	0.72032	D	0.01	-6.6746	8.6258	0.33888	0.0826:0.2875:0.6299:0.0	.	1510	Q9BX26	SYCP2_HUMAN	F	1510;1510;196	ENSP00000360040:L1510F;ENSP00000350162:L1510F	ENSP00000350162:L1510F	L	-	1	0	SYCP2	57872826	1.000000	0.71417	0.918000	0.36340	0.892000	0.51952	2.477000	0.45180	0.611000	0.30052	0.305000	0.20034	CTT	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079930.3		-	ENST00000357552.3	Missense_Mutation	SNP	20 : 58439431 - 58439431 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	89	11
HERC5	51191	broad.mit.edu	37	4	89425454	89425454	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89425454G>A	ENST00000264350.3	+	21	2807	c.2654G>A	c.(2653-2655)cGg>cAg	p.R885Q	HERC5_ENST00000508159.1_Missense_Mutation_p.R523Q	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	885	HECT.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GAAGAATTTCGGAGAGGATTT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(39;887 1012 34045 50514)							NA				0								G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	78	82	81		2654	3.5	1	4		81	0,8598		0,0,4299	no	missense	HERC5	NM_016323.2	43	0,1,6501	AA,AG,GG	NA	0.0,0.0227,0.0077	benign	885/1025	89425454	1,13003	2203	4299	6502	SO:0001583	missense			AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646	51191	51191			24368	protein-coding gene	gene with protein product		608242	hect domain and RLD 5		NA	10581175	Standard	NM_016323	NM_016323	NA	Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.2654G>A	4.37:g.89425454G>A	ENSP00000264350:p.Arg885Gln	NA	B2RTQ1|Q69G20	37	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	G	2.947	-0.217624	0.06101	2.27E-4	0.0	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.49139	0.79;0.79	4.62	3.45	0.39498	HECT (4);	0.316302	0.21246	N	0.077721	T	0.17831	0.0428	N	0.03071	-0.42	0.22581	N	0.998963	B	0.13594	0.008	B	0.14023	0.01	T	0.29822	-0.9999	10	0.02654	T	1	.	7.6934	0.28581	0.896:0.0:0.104:0.0	.	885	Q9UII4	HERC5_HUMAN	Q	885;523	ENSP00000264350:R885Q;ENSP00000424129:R523Q	ENSP00000264350:R885Q	R	+	2	0	HERC5	89644477	0.988000	0.35896	1.000000	0.80357	0.745000	0.42441	4.021000	0.57196	0.819000	0.34492	-0.302000	0.09304	CGG	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253554.2		+	ENST00000264350.3	Missense_Mutation	SNP	4 : 89425454 - 89425454 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	563	102
EPB41L4B	54566	broad.mit.edu	37	9	111936884	111936884	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111936884C>A	ENST00000374566.3	-	26	3170	c.2653G>T	c.(2653-2655)Gaa>Taa	p.E885*		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	885						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTCTCCAGTTCCTGCCGGAGT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	118	117			NA	NA	9		NA											NA				111936884		1958	4145	6103	SO:0001587	stop_gained			AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203	54566	54566			19818	protein-coding gene	gene with protein product		610340			NA	10783258	Standard	NM_018424	NM_018424	NA	Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.2653G>T	9.37:g.111936884C>A	ENSP00000363694:p.Glu885*	NA	Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	37	CCDS43859.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	10.425980|10.425980	0.99403|0.99403	.|.	.|.	ENSG00000095203|ENSG00000095203	ENST00000374566|ENST00000262536	.|.	.|.	.|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.419856	.|0.17679	.|N	.|0.165710	.|T	.|0.76821	.|0.4041	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.76462	.|-0.2950	.|6	0.87932|0.49607	D|T	0|0.09	.|.	19.215|19.215	0.93772|0.93772	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	885|569	.|.	ENSP00000363694:E885X|ENSP00000262536:G569V	E|G	-|-	1|2	0|0	EPB41L4B|EPB41L4B	110976705|110976705	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.677000|5.677000	0.68142|0.68142	2.539000|2.539000	0.85634|0.85634	0.655000|0.655000	0.94253|0.94253	GAA|GGA	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053592.1		-	ENST00000374566.3	Nonsense_Mutation	SNP	9 : 111936884 - 111936884 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	245	13
IL17RA	23765	broad.mit.edu	37	22	17590366	17590366	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17590366C>T	ENST00000319363.6	+	13	2390	c.2257C>T	c.(2257-2259)Ctc>Ttc	p.L753F		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	753					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		AGGCTTGATGCTCTCGCTCTT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	23	23			NA	NA	22		NA											NA				17590366		2202	4299	6501	SO:0001583	missense			U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663	23765	23765		Interleukins and interleukin receptors, CD molecules	5985	protein-coding gene	gene with protein product		605461	interleukin 17 receptor	IL17R	NA	9367539, 10591208	Standard	NM_014339	NM_014339	NA	Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.2257C>T	22.37:g.17590366C>T	ENSP00000320936:p.Leu753Phe	NA	O43844|Q20WK1	37	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	C	6.369	0.436184	0.12104	.	.	ENSG00000177663	ENST00000425985;ENST00000319363	T	0.06294	3.32	4.48	-8.95	0.00765	.	1.479250	0.04012	N	0.298422	T	0.02047	0.0064	N	0.03608	-0.345	0.21897	N	0.999484	B;B	0.12630	0.002;0.006	B;B	0.08055	0.003;0.003	T	0.41574	-0.9501	10	0.02654	T	1	-2.7623	8.0081	0.30336	0.0:0.2511:0.2848:0.4641	.	701;753	D3YTB4;Q96F46	.;I17RA_HUMAN	F	701;753	ENSP00000320936:L753F	ENSP00000320936:L753F	L	+	1	0	IL17RA	15970366	0.700000	0.27796	0.009000	0.14445	0.239000	0.25481	-0.054000	0.11826	-1.855000	0.01162	-0.304000	0.09214	CTC	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000315820.1		+	ENST00000319363.6	Missense_Mutation	SNP	22 : 17590366 - 17590366 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	130	31
NCAPD2	9918	broad.mit.edu	37	12	6619865	6619865	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6619865C>T	ENST00000315579.5	+	5	1132	c.333C>T	c.(331-333)aaC>aaT	p.N111N	NCAPD2_ENST00000545962.1_Silent_p.N66N	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	111	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CAGATAGAAACGCCCATCTAA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	122	124			NA	NA	12		NA											NA				6619865		2203	4300	6503	SO:0001819	synonymous_variant			D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292	9918	9918			24305	protein-coding gene	gene with protein product	chromosome condensation related SMC associated protein 1	615638			NA	8590280, 10958694	Standard	NM_014865	NM_014865	NA	Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.333C>T	12.37:g.6619865C>T		NA	D3DUR4|Q8N6U3	37	CCDS8548.1																																																																																			NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399964.1		+	ENST00000315579.5	Silent	SNP	12 : 6619865 - 6619865 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	503	76
GJA8	2703	broad.mit.edu	37	1	147380849	147380849	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147380849C>T	ENST00000369235.1	+	1	767	c.767C>T	c.(766-768)gCt>gTt	p.A256V	GJA8_ENST00000240986.4_Missense_Mutation_p.A256V			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	256					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CACTCCATTGCTGTCTCCTCC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(76;1255 1795 8195 52096)							NA				0													50	52	51			NA	NA	1		NA											NA				147380849		2203	4300	6503	SO:0001583	missense			U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634	2703	2703		Ion channels / Gap junction proteins (connexins)	4281	protein-coding gene	gene with protein product	connexin 50	600897	gap junction protein, alpha 8, 50kD (connexin 50), gap junction protein, alpha 8, 50kDa (connexin 50)	CAE1, CZP1, CAE	NA	9497259, 7796604	Standard	NM_005267	NM_005267	NA	Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.767C>T	1.37:g.147380849C>T	ENSP00000358238:p.Ala256Val	NA	A7L5M5|Q5VVN9|Q9NP25	37	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	c	15.02	2.708967	0.48517	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.97791	-4.54;-4.54	4.4	4.4	0.53042	.	4.457000	0.00582	N	0.000325	D	0.95287	0.8471	L	0.32530	0.975	0.54753	D	0.999982	P	0.49783	0.928	P	0.45071	0.468	D	0.86106	0.1559	10	0.31617	T	0.26	.	17.1387	0.86747	0.0:1.0:0.0:0.0	.	256	P48165	CXA8_HUMAN	V	256	ENSP00000240986:A256V;ENSP00000358238:A256V	ENSP00000240986:A256V	A	+	2	0	GJA8	145847473	1.000000	0.71417	0.887000	0.34795	0.979000	0.70002	4.672000	0.61597	2.267000	0.75376	0.313000	0.20887	GCT	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060647.1		+	ENST00000369235.1	Missense_Mutation	SNP	1 : 147380849 - 147380849 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	73
TXLNB	167838	broad.mit.edu	37	6	139563819	139563819	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139563819T>C	ENST00000358430.3	-	10	2131	c.1899A>G	c.(1897-1899)ccA>ccG	p.P633P	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	633						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CTGCGCATGCTGGAGCAGGCA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	83	81			NA	NA	6		NA											NA				139563819		2203	4300	6503	SO:0001819	synonymous_variant				CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440	167838	167838			21617	protein-coding gene	gene with protein product		611438	chromosome 6 open reading frame 198	C6orf198	NA	15184072	Standard	NM_153235	NM_153235	NA	Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.1899A>G	6.37:g.139563819T>C		NA	Q5VTF3|Q76L25|Q86T52|Q8N3S2	37	CCDS34545.1																																																																																			TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042458.1		-	ENST00000358430.3	Silent	SNP	6 : 139563819 - 139563819 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	746	127
CDH6	1004	broad.mit.edu	37	5	31297423	31297423	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:31297423C>T	ENST00000265071.2	+	4	816	c.551C>T	c.(550-552)aCg>aTg	p.T184M	CDH6_ENST00000514738.1_Missense_Mutation_p.T129M	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	184	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GTCACTGCGACGGATGCAGAT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	154	157			NA	NA	5		NA											NA				31297423		2203	4300	6503	SO:0001583	missense			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361	1004	1004		Cadherins / Major cadherins	1765	protein-coding gene	gene with protein product	K-Cadherin	603007			NA	7743525, 10191097	Standard	NM_004932	NM_004932	NA	Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.551C>T	5.37:g.31297423C>T	ENSP00000265071:p.Thr184Met	NA	A8K5H5|Q9BWS0	37	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167083	0.38217	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.56776	0.44;0.44	5.48	5.48	0.80851	Cadherin (5);Cadherin-like (1);	0.146577	0.64402	D	0.000009	T	0.68165	0.2971	M	0.72576	2.205	0.44918	D	0.997935	D;D	0.69078	0.983;0.997	P;P	0.60541	0.799;0.876	T	0.70883	-0.4751	10	0.72032	D	0.01	.	14.5454	0.68027	0.1463:0.8537:0.0:0.0	.	184;184	P55285;P55285-2	CADH6_HUMAN;.	M	129;184	ENSP00000424843:T129M;ENSP00000265071:T184M	ENSP00000265071:T184M	T	+	2	0	CDH6	31333180	0.896000	0.30565	0.495000	0.27527	0.070000	0.16714	1.892000	0.39748	2.749000	0.94314	0.655000	0.94253	ACG	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207355.2		+	ENST00000265071.2	Missense_Mutation	SNP	5 : 31297423 - 31297423 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	524	86
NACA2	342538	broad.mit.edu	37	17	59668386	59668386	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:59668386C>T	ENST00000521764.1	-	1	177	c.156G>A	c.(154-156)tgG>tgA	p.W52*		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	52					protein transport	cytoplasm|nucleus				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					CTGCCACCAGCCAGGCTTTTT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	110	113			NA	NA	17		NA											NA				59668386		2203	4300	6503	SO:0001587	stop_gained			BC062710	CCDS11630.1	17q23.3	2014-01-28	2007-04-20	2007-04-20		ENSG00000253506	342538	342538			23290	protein-coding gene	gene with protein product	alpha-NAC protein	609274	nascent-polypeptide-associated complex alpha polypeptide-like	NACAL	NA	12406326	Standard	NM_199290	NM_199290	NA	Approved	MGC71999	uc002izj.2	Q9H009		ENST00000521764.1:c.156G>A	17.37:g.59668386C>T	ENSP00000427802:p.Trp52*	NA	Q2VIR9	37	CCDS11630.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043673	0.36085	.	.	ENSG00000253506	ENST00000521764	.	.	.	0.753	0.753	0.18404	.	0.213702	0.30093	U	0.010435	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.3227	0.26536	0.0:1.0:0.0:0.0	.	.	.	.	X	52	.	.	W	-	3	0	NACA2	57023168	1.000000	0.71417	0.296000	0.24974	0.035000	0.12851	4.906000	0.63293	0.702000	0.31825	0.411000	0.27672	TGG	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255437.2		-	ENST00000521764.1	Nonsense_Mutation	SNP	17 : 59668386 - 59668386 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	841	159
ARHGAP18	93663	broad.mit.edu	37	6	129950516	129950516	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129950516G>A	ENST00000368149.2	-	5	856	c.768C>T	c.(766-768)ggC>ggT	p.G256G		NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	256					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		TGGCATCATCGCCTTTGCTCT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	119	120			NA	NA	6		NA											NA				129950516		2203	4300	6503	SO:0001819	synonymous_variant			AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376	93663	93663		Rho GTPase activating proteins	21035	protein-coding gene	gene with protein product		613351			NA		Standard	NM_033515	NM_033515	NA	Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.768C>T	6.37:g.129950516G>A		NA	E1P575|Q58EZ3|Q6P679|Q6PJD7|Q96S64	37	CCDS34535.1																																																																																			ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042185.2		-	ENST00000368149.2	Silent	SNP	6 : 129950516 - 129950516 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	759	159
CD300LF	146722	broad.mit.edu	37	17	72700910	72700910	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72700910C>T	ENST00000469092.1	-	3	374	c.98G>A	c.(97-99)gGc>gAc	p.G33D	CD300LF_ENST00000301573.9_Missense_Mutation_p.G30D|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000583937.1_Missense_Mutation_p.G30D|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000361254.4_Missense_Mutation_p.G33D|CD300LF_ENST00000464910.1_Missense_Mutation_p.G33D|CD300LF_ENST00000326165.6_Missense_Mutation_p.G30D|CD300LF_ENST00000581500.1_Missense_Mutation_p.G33D|CD300LF_ENST00000343125.4_Missense_Mutation_p.G33D			Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	30	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CCGCTCCAAGCCATTCACTGT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	67	69			NA	NA	17		NA											NA				72700910		2203	4300	6503	SO:0001583	missense			BC028199	CCDS11704.1, CCDS74148.1, CCDS74149.1, CCDS74150.1, CCDS74151.1, CCDS74152.1	17q25.2	2013-01-11	2006-03-29		ENSG00000186074	ENSG00000186074	146722	146722		Immunoglobulin superfamily / V-set domain containing	29883	protein-coding gene	gene with protein product		609807	CD300 antigen like family member F		NA	12975309	Standard	NM_139018	NM_139018	NA	Approved	IREM1, NKIR, IGSF13, CD300f, CLM1	uc002jlg.3	Q8TDQ1	OTTHUMG00000067609	ENST00000469092.1:c.98G>A	17.37:g.72700910C>T	ENSP00000463743:p.Gly33Asp	NA	B2RCL2|C9JDN3|Q3Y6P0|Q6UX24|Q7Z6A6|Q7Z7I4|Q7Z7I5|Q8N6D0|Q8NAF5	37		.	.	.	.	.	.	.	.	.	.	C	16.60	3.168291	0.57584	.	.	ENSG00000186074	ENST00000301573;ENST00000361254;ENST00000343125;ENST00000326165	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.35	3.24	0.37175	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.261665	0.26700	N	0.022958	D	0.84474	0.5480	H	0.95780	3.72	0.09310	N	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.996;0.997;0.998;0.997;0.998;0.997	T	0.75286	-0.3371	10	0.87932	D	0	.	8.3165	0.32104	0.154:0.7612:0.0:0.0848	.	30;33;33;30;30;33	E7EME0;Q8TDQ1-2;Q8TDQ1-4;Q8TDQ1-5;Q8TDQ1;Q8TDQ1-6	.;.;.;.;CLM1_HUMAN;.	D	30;33;33;30	ENSP00000301573:G30D;ENSP00000355294:G33D;ENSP00000343751:G33D;ENSP00000327075:G30D	ENSP00000301573:G30D	G	-	2	0	CD300LF	70212505	0.010000	0.17322	0.014000	0.15608	0.001000	0.01503	1.129000	0.31381	1.385000	0.46445	0.561000	0.74099	GGC	CD300LF-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000145086.2		-	ENST00000469092.1	Missense_Mutation	SNP	17 : 72700910 - 72700910 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	549	25
HTT	3064	broad.mit.edu	37	4	3146887	3146887	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3146887C>T	ENST00000355072.5	+	24	3220	c.3075C>T	c.(3073-3075)tgC>tgT	p.C1025C		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1025					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGTTTGGATGCTGTGAAGCTT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													337	307	316			NA	NA	4		NA											NA				3146887		1897	4118	6015	SO:0001819	synonymous_variant			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386	3064	3064		Endogenous ligands	4851	protein-coding gene	gene with protein product		613004	huntingtin (Huntington disease)	HD	NA	8458085	Standard	NM_002111	NM_002111	NA	Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.3075C>T	4.37:g.3146887C>T		NA	Q9UQB7	37	CCDS43206.1																																																																																			HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358234.2		+	ENST00000355072.5	Silent	SNP	4 : 3146887 - 3146887 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	700	63
ANKS6	203286	broad.mit.edu	37	9	101518814	101518814	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101518814C>T	ENST00000375019.2	-	11	1633	c.1311G>A	c.(1309-1311)acG>acA	p.T437T	ANKS6_ENST00000353234.4_Silent_p.T738T|ANKS6_ENST00000375018.1_Silent_p.T739T|ANKS6_ENST00000540940.1_Silent_p.T543T			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	738										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				AGGGGGAGGGCGTGAGGGTTG	0.552		NA											C	2	9e-04	NA	NA	2184	0.0017	0.9994	,	,	NA	3e-04	0.0013	NA	NA	8e-04	0.7301	EXOME	NA	NA	3e-04	SNP								NA				0								C		0,4052		0,0,2026	100	108	105		2214	-10.7	0.5	9		105	4,8344		0,4,4170	no	coding-synonymous	ANKS6	NM_173551.3		0,4,6196	TT,TC,CC	NA	0.0479,0.0,0.0323		738/872	101518814	4,12396	2026	4174	6200	SO:0001819	synonymous_variant			AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138	203286	203286		Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	26724	protein-coding gene	gene with protein product		615370	sterile alpha motif domain containing 6, ankyrin repeat domain 14	SAMD6, ANKRD14	NA	23793029	Standard	NM_173551	XM_005251793	NA	Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000375019.2:c.1311G>A	9.37:g.101518814C>T		NA	A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	37		2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	C	8.376	0.836505	0.16891	0.0	4.79E-4	ENSG00000165138	ENST00000444472	.	.	.	5.36	-10.7	0.00240	.	.	.	.	.	T	0.41971	0.1182	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49790	-0.8902	4	.	.	.	-16.4068	5.6656	0.17693	0.1426:0.5694:0.1748:0.1131	.	.	.	.	T	208	.	.	A	-	1	0	ANKS6	100558635	0.000000	0.05858	0.506000	0.27664	0.876000	0.50452	-3.351000	0.00501	-2.143000	0.00803	-0.350000	0.07774	GCC	ANKS6-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000053378.2		-	ENST00000375019.2	Silent	SNP	9 : 101518814 - 101518814 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	370	76
GRM7	2917	broad.mit.edu	37	3	7620670	7620670	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:7620670G>A	ENST00000486284.1	+	8	2351	c.2077G>A	c.(2077-2079)Gct>Act	p.A693T	GRM7_ENST00000403881.1_Missense_Mutation_p.A693T|GRM7_ENST00000357716.4_Missense_Mutation_p.A693T|GRM7_ENST00000389336.4_Missense_Mutation_p.A693T|GRM7_ENST00000402647.2_Missense_Mutation_p.A693T|GRM7_ENST00000458641.2_3'UTR	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	693					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	ATCAGTAACAGCTCCCAGACT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	99	104			NA	NA	3		NA											NA				7620670		2203	4300	6503	SO:0001583	missense			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277	2917	2917		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4599	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 87	604101			NA	8288585, 8840028	Standard	NM_000844	NM_000844	NA	Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000486284.1:c.2077G>A	3.37:g.7620670G>A	ENSP00000417536:p.Ala693Thr	NA	Q8NFS2|Q8NFS3|Q8NFS4	37		.	.	.	.	.	.	.	.	.	.	G	12.83	2.054986	0.36277	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4	6.17	6.17	0.99709	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.90947	0.7154	L	0.43152	1.355	0.51233	D	0.999911	B;P;P;P;P	0.43938	0.151;0.59;0.822;0.643;0.731	B;B;P;P;B	0.53360	0.21;0.282;0.724;0.459;0.438	D	0.89714	0.3914	10	0.48119	T	0.1	.	19.4432	0.94831	0.0:0.0:1.0:0.0	.	693;693;448;693;693	B7ZKK0;Q14831-5;Q59G95;Q14831;Q14831-2	.;.;.;GRM7_HUMAN;.	T	693	ENSP00000350348:A693T;ENSP00000417536:A693T;ENSP00000373987:A693T;ENSP00000385664:A693T;ENSP00000384585:A693T	ENSP00000350348:A693T	A	+	1	0	GRM7	7595670	1.000000	0.71417	1.000000	0.80357	0.371000	0.29859	6.396000	0.73234	2.941000	0.99782	0.655000	0.94253	GCT	GRM7-015	PUTATIVE	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000354360.1		+	ENST00000486284.1	Missense_Mutation	SNP	3 : 7620670 - 7620670 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	265	48
MMRN1	22915	broad.mit.edu	37	4	90872841	90872841	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90872841A>G	ENST00000508372.1	+	7	2714	c.2430A>G	c.(2428-2430)agA>agG	p.R810R	MMRN1_ENST00000264790.2_Silent_p.R1068R|MMRN1_ENST00000394981.1_Silent_p.R371R|MMRN1_ENST00000394980.1_Silent_p.R1068R			Q13201	MMRN1_HUMAN	multimerin 1	1068					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GTGCCTGCAGACATCCTTTTA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	97	103			NA	NA	4		NA											NA				90872841		2203	4300	6503	SO:0001819	synonymous_variant			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722	22915	22915		EMI domain containing	7178	protein-coding gene	gene with protein product	glycoprotein Ia*	601456	multimerin	MMRN	NA	7629143, 10828608	Standard	NM_007351	NM_007351	NA	Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000508372.1:c.2430A>G	4.37:g.90872841A>G		NA	Q4W5L1|Q6P3T8|Q6ZUL9	37																																																																																				MMRN1-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000364071.1		+	ENST00000508372.1	Silent	SNP	4 : 90872841 - 90872841 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	382	68
PEX5L	51555	broad.mit.edu	37	3	179525504	179525504	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179525504C>A	ENST00000467460.1	-	14	1964	c.1634G>T	c.(1633-1635)aGa>aTa	p.R545I	PEX5L_ENST00000465751.1_Missense_Mutation_p.R521I|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000392649.3_Missense_Mutation_p.R437I|PEX5L_ENST00000464614.1_Missense_Mutation_p.R437I|PEX5L_ENST00000468741.1_Missense_Mutation_p.R353I|PEX5L_ENST00000476138.1_Missense_Mutation_p.R502I|PEX5L_ENST00000263962.8_Missense_Mutation_p.R543I|PEX5L_ENST00000472994.1_Missense_Mutation_p.R486I|PEX5L_ENST00000485199.1_Missense_Mutation_p.R510I	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	545					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TAGGTTGTATCTGGACCGGAT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													177	173	174			NA	NA	3		NA											NA				179525504		2203	4300	6503	SO:0001583	missense			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757	51555	51555		Tetratricopeptide (TTC) repeat domain containing	30024	protein-coding gene	gene with protein product		611058			NA	11463335	Standard	NM_016559	NM_016559	NA	Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1634G>T	3.37:g.179525504C>A	ENSP00000419975:p.Arg545Ile	NA	Q9NQD1|Q9P2U3|Q9P2U4	37	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	C	34	5.371430	0.95923	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	T;T;T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	6.07	6.07	0.98685	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.77942	0.4206	L	0.53617	1.68	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.997;0.999	D;D;D;D;D;D	0.85130	0.997;0.997;0.997;0.94;0.913;0.964	T	0.77429	-0.2591	10	0.87932	D	0	-21.9465	20.6525	0.99598	0.0:1.0:0.0:0.0	.	486;521;437;543;510;545	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	I	545;543;510;543;437;353;502;433;486;437;521	ENSP00000419975:R545I;ENSP00000263962:R543I;ENSP00000418440:R510I;ENSP00000376420:R437I;ENSP00000418665:R353I;ENSP00000420555:R502I;ENSP00000418054:R486I;ENSP00000417270:R437I;ENSP00000419348:R521I	ENSP00000263962:R543I	R	-	2	0	PEX5L	181008198	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.747000	0.85070	2.890000	0.99128	0.585000	0.79938	AGA	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348577.1		-	ENST00000467460.1	Missense_Mutation	SNP	3 : 179525504 - 179525504 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1259	254
B3GALNT2	148789	broad.mit.edu	37	1	235617568	235617568	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235617568C>T	ENST00000366600.3	-	10	1439	c.1211G>A	c.(1210-1212)aGc>aAc	p.S404N		NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	404					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			GTAAGCGGGGCTCGGGTACTC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	68	69			NA	NA	1		NA											NA				235617568		2203	4300	6503	SO:0001583	missense			BC029564	CCDS1606.1, CCDS60453.1	1q42.3	2013-02-19	2006-06-14		ENSG00000162885	ENSG00000162885	148789	148789		Beta 3-glycosyltransferases	28596	protein-coding gene	gene with protein product		610194	UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2		NA	14724282	Standard	NM_152490	NM_001277155	NA	Approved	MGC39558	uc001hxc.3	Q8NCR0	OTTHUMG00000040468	ENST00000366600.3:c.1211G>A	1.37:g.235617568C>T	ENSP00000355559:p.Ser404Asn	NA	Q59GR3|Q5TCI3|Q96AL7	37	CCDS1606.1	.	.	.	.	.	.	.	.	.	.	C	34	5.318292	0.95682	.	.	ENSG00000162885	ENST00000366600	T	0.55052	0.54	5.93	5.93	0.95920	.	0.123054	0.85682	D	0.000000	T	0.71970	0.3403	M	0.64260	1.97	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.68006	-0.5523	10	0.41790	T	0.15	-18.5104	20.3398	0.98759	0.0:1.0:0.0:0.0	.	404	Q8NCR0	B3GL2_HUMAN	N	404	ENSP00000355559:S404N	ENSP00000355559:S404N	S	-	2	0	B3GALNT2	233684191	1.000000	0.71417	0.094000	0.20943	0.860000	0.49131	7.440000	0.80464	2.811000	0.96726	0.557000	0.71058	AGC	B3GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097376.1		-	ENST00000366600.3	Missense_Mutation	SNP	1 : 235617568 - 235617568 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	461	69
HIST1H1C	3006	broad.mit.edu	37	6	26056411	26056411	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26056411A>G	ENST00000343677.2	-	1	288	c.246T>C	c.(244-246)ctT>ctC	p.L82L		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	82	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TCTTGAGACCAAGTTTGATAC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	117	115			NA	NA	6		NA											NA				26056411		2203	4300	6503	SO:0001819	synonymous_variant			X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837	3006	3006		Histones / Replication-dependent	4716	protein-coding gene	gene with protein product		142710	H1 histone family, member 2, histone 1, H1c	H1F2	NA	2759094, 12408966	Standard	NM_005319	NM_005319	NA	Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.246T>C	6.37:g.26056411A>G		NA		37	CCDS4577.1																																																																																			HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043372.1		-	ENST00000343677.2	Silent	SNP	6 : 26056411 - 26056411 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	968	185
OBSCN	84033	broad.mit.edu	37	1	228547333	228547333	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228547333G>A	ENST00000570156.2	+	91	21606				OBSCN_ENST00000366709.4_Missense_Mutation_p.R3366H|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000284548.11_Missense_Mutation_p.R6247H	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	NA					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AAGAGCCCACGTGGCCAACGA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	23	21			NA	NA	1		NA											NA				228547333		2108	4228	6336	SO:0001627	intron_variant			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358	84033	84033		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	15719	protein-coding gene	gene with protein product		608616			NA	11448995, 11814696	Standard	NM_052843	NM_001098623	NA	Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000570156.2:c.21533-2944G>A	1.37:g.228547333G>A		NA	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	37	CCDS59204.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101248	0.76983	.	.	ENSG00000154358	ENST00000284548;ENST00000366709	T;T	0.59502	0.26;0.43	4.56	3.65	0.41850	.	.	.	.	.	T	0.55970	0.1954	M	0.73598	2.24	0.30079	N	0.80936	B	0.30793	0.295	B	0.22880	0.042	T	0.58103	-0.7695	9	0.46703	T	0.11	.	12.9453	0.58369	0.0789:0.0:0.9211:0.0	.	6247	Q5VST9-3	.	H	6247;3366	ENSP00000284548:R6247H;ENSP00000355670:R3366H	ENSP00000284548:R6247H	R	+	2	0	OBSCN	226613956	1.000000	0.71417	0.303000	0.25071	0.002000	0.02628	5.564000	0.67359	1.155000	0.42497	-0.264000	0.10439	CGT	OBSCN-011	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421354.3		+	ENST00000570156.2	Intron	SNP	1 : 228547333 - 228547333 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	59	10
KLF10	7071	broad.mit.edu	37	8	103667818	103667818	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103667818G>A	ENST00000285407.6	-	1	312	c.12C>T	c.(10-12)ttC>ttT	p.F4F		NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	4					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			GAGAGGCACCGAAGTTGAGCA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(16;495 519 2144 16528 44005)							NA				0													78	72	74			NA	NA	8		NA											NA				103667818		2203	4300	6503	SO:0001819	synonymous_variant			U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090	7071	7071		Kruppel-like transcription factors, Zinc fingers, C2H2-type	11810	protein-coding gene	gene with protein product		601878	TGFB inducible early growth response	TIEG	NA	8584037, 9721211	Standard		NM_001032282	NA	Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000285407.6:c.12C>T	8.37:g.103667818G>A		NA	B2R794|Q503B2	37	CCDS6294.1																																																																																			KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379967.1		-	ENST00000285407.6	Silent	SNP	8 : 103667818 - 103667818 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	211	32
ATG2B	55102	broad.mit.edu	37	14	96758421	96758421	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96758421G>A	ENST00000359933.4	-	37	6334	c.5441C>T	c.(5440-5442)aCg>aTg	p.T1814M	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1814										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AACTTCTGACGTGAATCTAAA	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	117	117			NA	NA	14		NA											NA				96758421		2203	4300	6503	SO:0001583	missense			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739	55102	55102			20187	protein-coding gene	gene with protein product			chromosome 14 open reading frame 103, ATG2 autophagy related 2 homolog B (S. cerevisiae)	C14orf103	NA	22350415	Standard	NM_018036	NM_018036	NA	Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.5441C>T	14.37:g.96758421G>A	ENSP00000353010:p.Thr1814Met	NA	Q6ZRE7|Q96DQ3|Q9NW80	37	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944723	0.73672	.	.	ENSG00000066739	ENST00000359933	T	0.10960	2.82	5.14	3.31	0.37934	.	0.050873	0.85682	D	0.000000	T	0.25082	0.0609	L	0.56769	1.78	0.53005	D	0.999967	D	0.89917	1.0	D	0.85130	0.997	T	0.00579	-1.1661	10	0.32370	T	0.25	.	10.3739	0.44071	0.1366:0.0:0.8634:0.0	.	1814	Q96BY7	ATG2B_HUMAN	M	1814	ENSP00000353010:T1814M	ENSP00000261834:T458M	T	-	2	0	ATG2B	95828174	1.000000	0.71417	0.859000	0.33776	0.979000	0.70002	4.832000	0.62759	0.652000	0.30806	0.655000	0.94253	ACG	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000314037.1		-	ENST00000359933.4	Missense_Mutation	SNP	14 : 96758421 - 96758421 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	76
TWF2	11344	broad.mit.edu	37	3	52265189	52265189	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52265189G>A	ENST00000499914.2	-	5	562	c.437C>T	c.(436-438)cCg>cTg	p.P146L	TLR9_ENST00000494383.1_Silent_p.P6P|TLR9_ENST00000597542.1_5'UTR|TWF2_ENST00000305533.5_Missense_Mutation_p.P146L					twinfilin actin-binding protein 2	NA										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGAGGTCAGCGGGGCAGGTGC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	92	90			NA	NA	3		NA											NA				52265189		2203	4300	6503	SO:0001583	missense			Y17169	CCDS2849.1	3p21.1	2013-04-25	2013-04-25	2006-11-13	ENSG00000247596	ENSG00000247596	11344	11344			9621	protein-coding gene	gene with protein product		607433	protein tyrosine kinase 9-like (A6-related protein), PTK9L protein tyrosine kinase 9-like (A6-related protein), twinfilin, actin-binding protein, homolog 2 (Drosophila)	PTK9L	NA	10406962, 12807912	Standard		NM_007284	NA	Approved	A6RP, A6r		Q6IBS0	OTTHUMG00000158105	ENST00000499914.2:c.437C>T	3.37:g.52265189G>A	ENSP00000426464:p.Pro146Leu	NA		37		.	.	.	.	.	.	.	.	.	.	G	16.88	3.244418	0.59103	.	.	ENSG00000247596	ENST00000305533;ENST00000499914	T;T	0.31510	1.49;1.49	5.41	5.41	0.78517	.	.	.	.	.	T	0.59649	0.2209	M	0.87269	2.87	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.61422	-0.7066	9	0.35671	T	0.21	.	14.4189	0.67171	0.0733:0.0:0.9267:0.0	.	146;146	D6RG15;Q6IBS0	.;TWF2_HUMAN	L	146	ENSP00000303908:P146L;ENSP00000426464:P146L	ENSP00000303908:P146L	P	-	2	0	TWF2	52240229	1.000000	0.71417	0.953000	0.39169	0.107000	0.19398	5.350000	0.66016	2.527000	0.85204	0.448000	0.29417	CCG	TWF2-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000367018.1		-	ENST00000499914.2	Missense_Mutation	SNP	3 : 52265189 - 52265189 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	804	114
SMARCA5	8467	broad.mit.edu	37	4	144449155	144449155	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:144449155G>A	ENST00000283131.3	+	7	1398	c.936G>A	c.(934-936)agG>agA	p.R312R		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	312	Helicase ATP-binding.				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					AAGCTCACAGGATCAAAAATG	0.264		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	45	44			NA	NA	4		NA											NA				144449155		2199	4294	6493	SO:0001819	synonymous_variant			AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147	8467	8467			11101	protein-coding gene	gene with protein product		603375			NA	9730600	Standard		NM_003601	NA	Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.936G>A	4.37:g.144449155G>A		NA		37	CCDS3761.1																																																																																			SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365077.3		+	ENST00000283131.3	Silent	SNP	4 : 144449155 - 144449155 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	242	47
RDH8	50700	broad.mit.edu	37	19	10132384	10132384	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10132384C>T	ENST00000591589.1	+	6	1144	c.955C>T	c.(955-957)Ctg>Ttg	p.L319L	RDH8_ENST00000171214.1_Silent_p.L299L			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	299					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	CCTTCAATGTCTGTCCTGCGG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	91	92			NA	NA	19		NA											NA				10132384		2203	4300	6503	SO:0001819	synonymous_variant			AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	50700	50700	1.1.1.-	Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2	14423	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 28C, member 2	608575			NA	10753906, 19027726	Standard		NM_015725	NA	Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000591589.1:c.955C>T	19.37:g.10132384C>T		NA	Q9H838	37	CCDS12223.2																																																																																			RDH8-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451125.1		+	ENST00000591589.1	Silent	SNP	19 : 10132384 - 10132384 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	376	81
DDX50	79009	broad.mit.edu	37	10	70679738	70679738	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70679738G>A	ENST00000373585.3	+	8	1346		c.e8+1		DDX50_ENST00000466265.1_Splice_Site	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	NA						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						CATAAAACAGGTAAGTCTTTT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	90	91			NA	NA	10		NA											NA				70679738		2203	4300	6503	SO:0001630	splice_region_variant			AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625	79009	79009		DEAD-boxes	17906	protein-coding gene	gene with protein product		610373			NA	11891046	Standard	NM_024045	NM_024045	NA	Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.1239+1G>A	10.37:g.70679738G>A		NA	Q5VX37|Q8WV76|Q9BWI8	37	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	g	17.68	3.448704	0.63178	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1453	0.65347	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DDX50	70349744	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	9.225000	0.95219	2.056000	0.61249	0.484000	0.47621	.	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048363.1	Intron	+	ENST00000373585.3	Splice_Site	SNP	10 : 70679738 - 70679738 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	685	121
RDH8	50700	broad.mit.edu	37	19	10129521	10129521	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10129521T>G	ENST00000591589.1	+	3	626	c.437T>G	c.(436-438)cTt>cGt	p.L146R	RDH8_ENST00000171214.1_Missense_Mutation_p.L126R			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	126					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	AAAGCTGTGCTTCCAGGCATG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	87	88			NA	NA	19		NA											NA				10129521		2203	4300	6503	SO:0001583	missense			AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	50700	50700	1.1.1.-	Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2	14423	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 28C, member 2	608575			NA	10753906, 19027726	Standard		NM_015725	NA	Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000591589.1:c.437T>G	19.37:g.10129521T>G	ENSP00000466058:p.Leu146Arg	NA	Q9H838	37	CCDS12223.2	.	.	.	.	.	.	.	.	.	.	T	23.7	4.449839	0.84101	.	.	ENSG00000080511	ENST00000171214	D	0.95035	-3.59	5.34	5.34	0.76211	NAD(P)-binding domain (1);	0.054757	0.64402	D	0.000001	D	0.97779	0.9271	M	0.93550	3.43	0.49582	D	0.999808	D	0.71674	0.998	D	0.79108	0.992	D	0.98708	1.0703	10	0.87932	D	0	.	13.2557	0.60076	0.0:0.0:0.0:1.0	.	126	Q9NYR8	RDH8_HUMAN	R	126	ENSP00000171214:L126R	ENSP00000171214:L126R	L	+	2	0	RDH8	9990521	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.657000	0.83745	2.016000	0.59253	0.402000	0.26972	CTT	RDH8-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451125.1		+	ENST00000591589.1	Missense_Mutation	SNP	19 : 10129521 - 10129521 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	573	130
CASKIN1	57524	broad.mit.edu	37	16	2236819	2236819	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2236819C>T	ENST00000343516.6	-	10	1029	c.937G>A	c.(937-939)Gag>Aag	p.E313K		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	313	SH3.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GGATGCTGCTCGAGGACCTGG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	34	32			NA	NA	16		NA											NA				2236819		2012	4155	6167	SO:0001583	missense			AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971	57524	57524		Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	20879	protein-coding gene	gene with protein product		612184			NA	12040031	Standard	NM_020764	NM_020764	NA	Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.937G>A	16.37:g.2236819C>T	ENSP00000345436:p.Glu313Lys	NA	Q9P2P0	37	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559699	0.86335	.	.	ENSG00000167971	ENST00000343516;ENST00000382453	T	0.19394	2.15	4.65	4.65	0.58169	Src homology-3 domain (3);Variant SH3 (1);	.	.	.	.	T	0.38585	0.1046	L	0.41906	1.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.14839	-1.0458	9	0.66056	D	0.02	-29.7749	16.6164	0.84917	0.0:1.0:0.0:0.0	.	313	Q8WXD9	CSKI1_HUMAN	K	313;142	ENSP00000345436:E313K	ENSP00000345436:E313K	E	-	1	0	CASKIN1	2176820	1.000000	0.71417	0.955000	0.39395	0.615000	0.37417	7.606000	0.82863	2.577000	0.86979	0.563000	0.77884	GAG	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000435055.1		-	ENST00000343516.6	Missense_Mutation	SNP	16 : 2236819 - 2236819 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	385	64
SEC14L2	23541	broad.mit.edu	37	22	30805262	30805262	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30805262C>T	ENST00000312932.9	+	6	770	c.510C>T	c.(508-510)gcC>gcT	p.A170A	SEC14L2_ENST00000403484.1_Silent_p.A96A|SEC14L2_ENST00000402592.3_Silent_p.A87A|SEC14L2_ENST00000405717.3_Silent_p.A170A|RP4-539M6.19_ENST00000439838.1_Silent_p.A4A|SEC14L2_ENST00000459728.1_3'UTR	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	170	CRAL-TRIO.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	CTGTGGAGGCCTATggagagg	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	54	52			NA	NA	22		NA											NA				30805262		2203	4300	6503	SO:0001819	synonymous_variant			AL096881	CCDS13876.1, CCDS46685.1, CCDS56228.1	22q12.2	2010-08-19	2001-11-28		ENSG00000100003	ENSG00000100003	23541	23541			10699	protein-coding gene	gene with protein product	supernatant protein factor	607558	SEC14 (S. cerevisiae)-like 2	C22orf6	NA	10591208	Standard	NM_012429	NM_033382	NA	Approved	TAP, SPF, KIAA1186, KIAA1658	uc003ahr.3	O76054	OTTHUMG00000151024	ENST00000312932.9:c.510C>T	22.37:g.30805262C>T		NA	Q53EQ2|Q9ULN4	37	CCDS13876.1																																																																																			SEC14L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321018.4		+	ENST00000312932.9	Silent	SNP	22 : 30805262 - 30805262 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	269	61
SPOCD1	90853	broad.mit.edu	37	1	32256723	32256723	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32256723C>A	ENST00000360482.2	-	16	3261	c.3132G>T	c.(3130-3132)gaG>gaT	p.E1044D	SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Missense_Mutation_p.E524D|RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000533231.1_Missense_Mutation_p.E1031D	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	1044					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		AGTATCTCTTCTCCACCTTAC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	25	25			NA	NA	1		NA											NA				32256723		2203	4298	6501	SO:0001583	missense			AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668	90853	90853			26338	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 146				NA	12477932	Standard	NM_144569	NM_144569	NA	Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.3132G>T	1.37:g.32256723C>A	ENSP00000353670:p.Glu1044Asp	NA	Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	37	CCDS347.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.18|16.18	3.050524|3.050524	0.55218|0.55218	.|.	.|.	ENSG00000134668|ENSG00000134668	ENST00000257100;ENST00000360482;ENST00000452755;ENST00000533231|ENST00000294514	T;T;T;T|.	0.54866|.	0.56;1.01;0.55;1.37|.	4.88|4.88	1.9|1.9	0.25705|0.25705	.|.	.|.	.|.	.|.	.|.	T|T	0.42314|0.42314	0.1197|0.1197	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	B;B;B|.	0.32101|.	0.356;0.137;0.243|.	B;B;B|.	0.36719|.	0.231;0.049;0.116|.	T|T	0.31779|0.31779	-0.9931|-0.9931	9|6	0.32370|0.87932	T|D	0.25|0	-15.6466|-15.6466	5.119|5.119	0.14851|0.14851	0.0:0.6375:0.1746:0.1879|0.0:0.6375:0.1746:0.1879	.|.	1031;467;1044|.	Q6ZMY3-2;E9PPM7;Q6ZMY3|.	.;.;SPOC1_HUMAN|.	D|I	524;1044;467;1031|329	ENSP00000257100:E524D;ENSP00000353670:E1044D;ENSP00000399778:E467D;ENSP00000435851:E1031D|.	ENSP00000257100:E524D|ENSP00000294514:R329I	E|R	-|-	3|2	2|0	SPOCD1|SPOCD1	32029310|32029310	0.902000|0.902000	0.30710|0.30710	0.498000|0.498000	0.27564|0.27564	0.818000|0.818000	0.46254|0.46254	0.838000|0.838000	0.27572|0.27572	0.294000|0.294000	0.22547|0.22547	-0.175000|-0.175000	0.13238|0.13238	GAG|AGA	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381912.1		-	ENST00000360482.2	Missense_Mutation	SNP	1 : 32256723 - 32256723 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	142	16
VAT1L	57687	broad.mit.edu	37	16	77850827	77850827	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77850827C>T	ENST00000302536.2	+	2	396	c.243C>T	c.(241-243)aaC>aaT	p.N81N		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	81							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GTGGATTAAACTTCATTGACT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	97	99			NA	NA	16		NA											NA				77850827		2198	4300	6498	SO:0001819	synonymous_variant			AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724	57687	57687			29315	protein-coding gene	gene with protein product			vesicle amine transport protein 1 homolog (T. californica)-like		NA	10997877	Standard	NM_020927	NM_020927	NA	Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.243C>T	16.37:g.77850827C>T		NA	Q8IYW8	37	CCDS32492.1																																																																																			VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434010.1		+	ENST00000302536.2	Silent	SNP	16 : 77850827 - 77850827 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	420	15
ANKRD13C	81573	broad.mit.edu	37	1	70740430	70740430	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70740430C>A	ENST00000370944.4	-	11	1680	c.1367G>T	c.(1366-1368)aGc>aTc	p.S456I	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.S421I|ANKRD13C_ENST00000464236.1_5'UTR	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	456					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						AAATTCCTGGCTCATGGCTAT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													186	191	189			NA	NA	1		NA											NA				70740430		2203	4300	6503	SO:0001583	missense				CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454	81573	81573		Ankyrin repeat domain containing	25374	protein-coding gene	gene with protein product		615125			NA	11230166	Standard	NM_030816	NM_030816	NA	Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.1367G>T	1.37:g.70740430C>A	ENSP00000359982:p.Ser456Ile	NA	B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	37	CCDS648.2	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008699	0.93346	.	.	ENSG00000118454	ENST00000370944;ENST00000262346	T;T	0.58210	0.35;0.35	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.75496	0.3857	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.991;0.996	T	0.80995	-0.1133	10	0.87932	D	0	-15.944	18.7421	0.91777	0.0:1.0:0.0:0.0	.	421;456	Q8N6S4-2;Q8N6S4	.;AN13C_HUMAN	I	456;421	ENSP00000359982:S456I;ENSP00000262346:S421I	ENSP00000262346:S421I	S	-	2	0	ANKRD13C	70513018	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.404000	0.79996	2.537000	0.85549	0.563000	0.77884	AGC	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025903.1		-	ENST00000370944.4	Missense_Mutation	SNP	1 : 70740430 - 70740430 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	653	17
ADAMTS4	9507	broad.mit.edu	37	1	161168079	161168079	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161168079G>A	ENST00000367996.5	-	1	767	c.339C>T	c.(337-339)ggC>ggT	p.G113G	ADAMTS4_ENST00000367995.3_Silent_p.G113G	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	NA					proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CAGGCGCCTGGCCCAGGTACT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	41	41			NA	NA	1		NA											NA				161168079		2203	4300	6503	SO:0001819	synonymous_variant			AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859	9507	9507		ADAM metallopeptidases with thrombospondin type 1 motif	220	protein-coding gene	gene with protein product		603876	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4		NA	10094461	Standard	NM_005099	NM_005099	NA	Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.339C>T	1.37:g.161168079G>A		NA	Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	37	CCDS1223.1																																																																																			ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083066.2		-	ENST00000367996.5	Silent	SNP	1 : 161168079 - 161168079 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	351	40
ZNF652	22834	broad.mit.edu	37	17	47394317	47394317	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47394317G>A	ENST00000362063.2	-	2	1089	c.771C>T	c.(769-771)cgC>cgT	p.R257R	ZNF652_ENST00000430262.2_Silent_p.R257R	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			CCAGGTACCAGCGAGTGTTAA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	147	157			NA	NA	17		NA											NA				47394317		2203	4300	6503	SO:0001819	synonymous_variant			AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740	22834	22834		Zinc fingers, C2H2-type	29147	protein-coding gene	gene with protein product		613907			NA	10231032	Standard	NM_014897	NM_014897	NA	Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.771C>T	17.37:g.47394317G>A		NA	A4QPD9|Q5H9Q0	37	CCDS32677.1																																																																																			ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364524.1		-	ENST00000362063.2	Silent	SNP	17 : 47394317 - 47394317 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	412	101
ACTB	60	broad.mit.edu	37	7	5568999	5568999	+	Silent	SNP	G	G	T	rs142116324	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5568999G>T	ENST00000331789.5	-	3	347	c.156C>A	c.(154-156)tcC>tcA	p.S52S		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	52					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CGCCCACATAGGAATCCTTCT	0.612		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	7		NA											NA				5568999		2203	4300	6503	SO:0001819	synonymous_variant			M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624	60	60			132	protein-coding gene	gene with protein product		102630			NA	1505215	Standard	NM_001101	NM_001101	NA	Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.156C>A	7.37:g.5568999G>T		NA	P02570|P70514|P99021|Q11211|Q64316|Q75MN2|Q96B34|Q96HG5	37	CCDS5341.1																																																																																			ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059589.4		-	ENST00000331789.5	Silent	SNP	7 : 5568999 - 5568999 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	720	91
RGS10	6001	broad.mit.edu	37	10	121286924	121286924	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121286924C>A	ENST00000369103.2	-	2	131	c.62G>T	c.(61-63)aGc>aTc	p.S21I	RGS10_ENST00000392865.1_Missense_Mutation_p.S7I|RGS10_ENST00000369101.3_Missense_Mutation_p.S13I	NM_001005339.1	NP_001005339.1	O43665	RGS10_HUMAN	regulator of G-protein signaling 10	13					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		ACTGCCATCGCTGTCGTGGAT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	90	93			NA	NA	10		NA											NA				121286924		2203	4300	6503	SO:0001583	missense			AF045229	CCDS31294.1, CCDS41572.1	10q25	2007-08-14	2007-08-14		ENSG00000148908	ENSG00000148908	6001	6001		Regulators of G-protein signaling	9992	protein-coding gene	gene with protein product		602856	regulator of G-protein signalling 10		NA	8774883	Standard	NM_002925	NM_002925	NA	Approved		uc001leg.3	O43665	OTTHUMG00000019150	ENST00000369103.2:c.62G>T	10.37:g.121286924C>A	ENSP00000358099:p.Ser21Ile	NA	A8K408|B1AMR8|Q6IAZ6|Q96GN0	37	CCDS31294.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034845	0.35893	.	.	ENSG00000148908	ENST00000392865;ENST00000369103;ENST00000369101	T;T;T	0.47528	0.85;0.84;0.84	5.63	4.73	0.59995	.	0.429106	0.24220	N	0.040450	T	0.29652	0.0740	N	0.08118	0	0.22489	N	0.999058	B;B;B	0.28880	0.226;0.226;0.145	B;B;B	0.34242	0.176;0.178;0.058	T	0.22521	-1.0214	10	0.25751	T	0.34	-10.5978	11.8905	0.52626	0.0:0.9179:0.0:0.0821	.	21;7;13	O43665-3;O43665-2;O43665	.;.;RGS10_HUMAN	I	7;21;13	ENSP00000376605:S7I;ENSP00000358099:S21I;ENSP00000358097:S13I	ENSP00000358097:S13I	S	-	2	0	RGS10	121276914	0.227000	0.23707	0.039000	0.18376	0.655000	0.38815	1.434000	0.34958	1.516000	0.48900	0.551000	0.68910	AGC	RGS10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050654.1		-	ENST00000369103.2	Missense_Mutation	SNP	10 : 121286924 - 121286924 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	52
MEIS2	4212	broad.mit.edu	37	15	37385817	37385817	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:37385817C>T	ENST00000338564.5	-	7	1050	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	MEIS2_ENST00000561208.1_Missense_Mutation_p.E202K|MEIS2_ENST00000557796.2_Missense_Mutation_p.E189K|MEIS2_ENST00000397624.3_Missense_Mutation_p.E114K|MEIS2_ENST00000340545.5_Missense_Mutation_p.E189K|MEIS2_ENST00000559085.1_Missense_Mutation_p.E189K|MEIS2_ENST00000382766.2_Missense_Mutation_p.E202K|MEIS2_ENST00000219869.9_Missense_Mutation_p.E56K|MEIS2_ENST00000444725.1_Missense_Mutation_p.E202K|MEIS2_ENST00000424352.2_Missense_Mutation_p.E202K|MEIS2_ENST00000559561.1_Missense_Mutation_p.E202K|MEIS2_ENST00000397620.2_Missense_Mutation_p.E114K	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	202	Ser/Thr-rich.				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		CCTGAAAGTTCTTCATGATCT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	137	144			NA	NA	15		NA											NA				37385817		2201	4297	6498	SO:0001583	missense			AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138	4212	4212		Homeoboxes / TALE class	7001	protein-coding gene	gene with protein product		601740	Meis (mouse) homolog 2, Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)		NA	9383298	Standard	NM_170677	NM_172315	NA	Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000338564.5:c.604G>A	15.37:g.37385817C>T	ENSP00000341400:p.Glu202Lys	NA	Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	37	CCDS10045.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637900	0.67130	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624;ENST00000397620;ENST00000219869	T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.31513	0.0799	L	0.34521	1.04	0.80722	D	1	B;B;B;B;B;B;B;B	0.31730	0.032;0.337;0.228;0.03;0.089;0.142;0.159;0.03	B;B;B;B;B;B;B;B	0.35278	0.044;0.199;0.071;0.062;0.075;0.044;0.06;0.044	T	0.02743	-1.1116	10	0.42905	T	0.14	-0.1362	20.5568	0.99304	0.0:1.0:0.0:0.0	.	189;202;202;202;202;56;114;189	Q96DI2;O14770-4;O14770;O14770-3;O14770-2;B3KP81;B3KPQ6;B3KP98	.;.;MEIS2_HUMAN;.;.;.;.;.	K	202;202;202;202;202;189;189;114;56	ENSP00000326296:E202K;ENSP00000341400:E202K;ENSP00000372216:E202K;ENSP00000404185:E202K;ENSP00000391887:E202K;ENSP00000339549:E189K;ENSP00000380745:E114K;ENSP00000219869:E56K	ENSP00000219869:E56K	E	-	1	0	MEIS2	35173109	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	GAA	MEIS2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252004.2		-	ENST00000338564.5	Missense_Mutation	SNP	15 : 37385817 - 37385817 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	368	58
RASGEF1A	221002	broad.mit.edu	37	10	43691985	43691985	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43691985C>T	ENST00000395809.1	-	12	3866	c.1360G>A	c.(1360-1362)Gcc>Acc	p.A454T	RASGEF1A_ENST00000374459.1_Missense_Mutation_p.A462T|RASGEF1A_ENST00000395810.1_Missense_Mutation_p.A454T			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	454	Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	p.A401T(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						TCAAAGGAGGCGACGAAGAGA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											131	121	125			NA	NA	10		NA											NA				43691985		2203	4300	6503	SO:0001583	missense			AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915	221002	221002			24246	protein-coding gene	gene with protein product		614531			NA	12477932	Standard	NM_145313	XM_005271808	NA	Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.1360G>A	10.37:g.43691985C>T	ENSP00000379154:p.Ala454Thr	NA	Q8TBF1	37	CCDS7202.2	.	.	.	.	.	.	.	.	.	.	C	32	5.162848	0.94727	.	.	ENSG00000198915	ENST00000374459;ENST00000395810;ENST00000395809	T;T;T	0.30981	1.51;1.51;1.51	5.14	5.14	0.70334	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.64402	D	0.000001	T	0.45175	0.1329	M	0.61703	1.905	0.80722	D	1	P;P	0.50819	0.807;0.939	B;P	0.50314	0.356;0.637	T	0.44283	-0.9338	10	0.59425	D	0.04	.	18.9656	0.92695	0.0:1.0:0.0:0.0	.	454;462	Q8N9B8;Q8N9B8-2	RGF1A_HUMAN;.	T	462;454;454	ENSP00000363583:A462T;ENSP00000379155:A454T;ENSP00000379154:A454T	ENSP00000363583:A462T	A	-	1	0	RASGEF1A	43011991	1.000000	0.71417	0.958000	0.39756	0.922000	0.55478	7.403000	0.79983	2.550000	0.86006	0.462000	0.41574	GCC	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313989.1		-	ENST00000395809.1	Missense_Mutation	SNP	10 : 43691985 - 43691985 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	551	89
CEP152	22995	broad.mit.edu	37	15	49059316	49059316	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49059316C>T	ENST00000380950.2	-	17	2408	c.2221G>A	c.(2221-2223)Gat>Aat	p.D741N	CEP152_ENST00000325747.5_Missense_Mutation_p.D648N|CEP152_ENST00000399334.3_Missense_Mutation_p.D741N	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	741					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TCTAGATTATCCTTCTCTCTG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													208	198	201			NA	NA	15		NA											NA				49059316		1930	4128	6058	SO:0001583	missense			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20					22995	22995			29298	protein-coding gene	gene with protein product	asterless	613529	microcephaly, primary autosomal recessive 4	MCPH4	NA	14654843, 21131973	Standard	NM_014985	NM_014985	NA	Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.2221G>A	15.37:g.49059316C>T	ENSP00000370337:p.Asp741Asn	NA	Q17RV1|Q6NTA0	37	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	31	5.086811	0.94100	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.59502	0.27;0.32;0.26	5.45	5.45	0.79879	.	0.216802	0.45361	D	0.000361	T	0.76212	0.3956	M	0.77103	2.36	0.45076	D	0.998092	P;D;D	0.89917	0.925;1.0;0.992	P;D;P	0.68943	0.691;0.961;0.891	T	0.77456	-0.2581	10	0.54805	T	0.06	-16.5704	17.4356	0.87550	0.0:1.0:0.0:0.0	.	648;741;741	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	N	741;648;741	ENSP00000370337:D741N;ENSP00000321000:D648N;ENSP00000382271:D741N	ENSP00000321000:D648N	D	-	1	0	CEP152	46846608	1.000000	0.71417	0.980000	0.43619	0.954000	0.61252	5.358000	0.66064	2.716000	0.92895	0.655000	0.94253	GAT	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417365.1		-	ENST00000380950.2	Missense_Mutation	SNP	15 : 49059316 - 49059316 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	953	176
PPFIBP2	8495	broad.mit.edu	37	11	7672936	7672936	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7672936T>C	ENST00000530181.1	+	19	2089	c.1868T>C	c.(1867-1869)aTc>aCc	p.I623T	PPFIBP2_ENST00000533792.1_Missense_Mutation_p.I608T|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.I654T|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000299492.4_Missense_Mutation_p.I766T	NM_001256569.1	NP_001243498	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	766					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CTTCTCAACATCCCCCCACAA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	115	121			NA	NA	11		NA											NA				7672936		2201	4296	6497	SO:0001583	missense			AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387	8495	8495		Sterile alpha motif (SAM) domain containing	9250	protein-coding gene	gene with protein product		603142			NA	9624153	Standard	NM_003621	NM_003621	NA	Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000530181.1:c.1868T>C	11.37:g.7672936T>C	ENSP00000437321:p.Ile623Thr	NA	O75337|Q8WW26	37	CCDS58117.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.488844	0.84962	.	.	ENSG00000166387	ENST00000299492;ENST00000537211;ENST00000533792;ENST00000541115;ENST00000528883;ENST00000530181	D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11	5.77	5.77	0.91146	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (1);Sterile alpha motif, type 2 (1);	0.000000	0.64402	D	0.000001	D	0.95027	0.8390	M	0.93462	3.42	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.96012	0.9002	10	0.87932	D	0	-18.7694	14.3292	0.66541	0.0:0.0:0.0:1.0	.	654;654;689;608;623;766	E9PK77;B7Z433;F5GWB0;E9PP16;E9PMU1;Q8ND30	.;.;.;.;.;LIPB2_HUMAN	T	766;107;608;689;654;623	ENSP00000299492:I766T;ENSP00000436498:I608T;ENSP00000435469:I654T;ENSP00000437321:I623T	ENSP00000299492:I766T	I	+	2	0	PPFIBP2	7629512	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.997000	0.88414	2.326000	0.78906	0.533000	0.62120	ATC	PPFIBP2-008	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385403.2		+	ENST00000530181.1	Missense_Mutation	SNP	11 : 7672936 - 7672936 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	463	92
KCNJ14	3770	broad.mit.edu	37	19	48965133	48965133	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48965133G>A	ENST00000391884.1	+	1	628	c.152G>A	c.(151-153)cGc>cAc	p.R51H	KCNJ14_ENST00000342291.2_Missense_Mutation_p.R51H			Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	51						voltage-gated potassium channel complex	inward rectifier potassium channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		CGCCGCGGTCGCTTCGTCAAG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(148;170 3504 35216)							NA				0													31	22	25			NA	NA	19		NA											NA				48965133		2196	4295	6491	SO:0001583	missense			BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324	3770	3770		Potassium channels, Voltage-gated ion channels / Potassium channels, Inwardly rectifying	6260	protein-coding gene	gene with protein product		603953			NA	9592090, 10723734, 16382105	Standard	NM_013348	NM_013348	NA	Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.152G>A	19.37:g.48965133G>A	ENSP00000375756:p.Arg51His	NA		37	CCDS12721.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.517175	0.64634	.	.	ENSG00000182324	ENST00000342291;ENST00000391884	D;D	0.94862	-3.54;-3.54	4.36	2.15	0.27550	.	0.357017	0.28262	N	0.016000	D	0.92133	0.7506	N	0.08118	0	0.47065	D	0.999305	D	0.89917	1.0	D	0.97110	1.0	D	0.90891	0.4761	10	0.87932	D	0	.	8.9956	0.36050	0.0:0.162:0.6701:0.1679	.	51	Q9UNX9	IRK14_HUMAN	H	51	ENSP00000341479:R51H;ENSP00000375756:R51H	ENSP00000341479:R51H	R	+	2	0	KCNJ14	53656945	1.000000	0.71417	0.981000	0.43875	0.254000	0.26022	9.436000	0.97532	0.553000	0.29044	-0.165000	0.13383	CGC	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466127.1		+	ENST00000391884.1	Missense_Mutation	SNP	19 : 48965133 - 48965133 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	75	17
NFKB2	4791	broad.mit.edu	37	10	104156690	104156690	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104156690C>T	ENST00000369966.3	+	6	523	c.273C>T	c.(271-273)atC>atT	p.I91I	NFKB2_ENST00000428099.1_Silent_p.I91I|NFKB2_ENST00000189444.6_Silent_p.I91I	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	91	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		CAGCCAAGATCGAGGTGGACC	0.597		NA	T	IGH@	B-NHL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	0													71	75	74			NA	NA	10		NA											NA				104156690		2081	4216	6297	SO:0001819	synonymous_variant			X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150	4791	4791		Ankyrin repeat domain containing	7795	protein-coding gene	gene with protein product		164012			NA	1876189	Standard		XM_005269860	NA	Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.273C>T	10.37:g.104156690C>T		NA	D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	37	CCDS41564.1																																																																																			NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050080.2		+	ENST00000369966.3	Silent	SNP	10 : 104156690 - 104156690 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	220	43
ZSCAN4	201516	broad.mit.edu	37	19	58189722	58189722	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58189722G>A	ENST00000318203.5	+	5	1448	c.751G>A	c.(751-753)Gct>Act	p.A251T		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	251					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCTAGTCACTGCTAGATCTCA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	81	84			NA	NA	19		NA											NA				58189722		2203	4300	6503	SO:0001583	missense			AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532	201516	201516		-, Zinc fingers, C2H2-type	23709	protein-coding gene	gene with protein product		613419	zinc finger protein 494	ZNF494	NA		Standard	NM_152677	NM_152677	NA	Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.751G>A	19.37:g.58189722G>A	ENSP00000321963:p.Ala251Thr	NA	Q3MIQ2	37	CCDS12958.1	.	.	.	.	.	.	.	.	.	.	G	9.831	1.188453	0.21954	.	.	ENSG00000180532	ENST00000318203	T	0.06849	3.25	3.81	-2.06	0.07298	.	2.348450	0.01409	N	0.013930	T	0.05868	0.0153	N	0.22421	0.69	0.09310	N	1	B	0.16396	0.017	B	0.14023	0.01	T	0.33803	-0.9854	10	0.21014	T	0.42	0.1009	4.7069	0.12855	0.0:0.3152:0.3616:0.3232	.	251	Q8NAM6	ZSCA4_HUMAN	T	251	ENSP00000321963:A251T	ENSP00000321963:A251T	A	+	1	0	ZSCAN4	62881534	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.181000	0.03085	-0.538000	0.06281	-0.262000	0.10625	GCT	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466812.1		+	ENST00000318203.5	Missense_Mutation	SNP	19 : 58189722 - 58189722 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	302	51
AADACL4	343066	broad.mit.edu	37	1	12726629	12726629	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12726629G>A	ENST00000376221.1	+	4	1107	c.1107G>A	c.(1105-1107)tgG>tgA	p.W369*		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	369						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GCGTGACATGGTACCACCTGT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	89	88			NA	NA	1		NA											NA				12726629		2203	4300	6503	SO:0001587	stop_gained				CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518	343066	343066			32038	protein-coding gene	gene with protein product					NA		Standard	NM_001013630	XM_006710608	NA	Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.1107G>A	1.37:g.12726629G>A	ENSP00000365395:p.Trp369*	NA		37	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311381	0.23821	.	.	ENSG00000204518	ENST00000376221	.	.	.	4.53	1.47	0.22746	.	0.068503	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6505	5.0584	0.14544	0.0817:0.1461:0.621:0.1512	.	.	.	.	X	369	.	ENSP00000365395:W369X	W	+	3	0	AADACL4	12649216	0.994000	0.37717	0.004000	0.12327	0.020000	0.10135	2.300000	0.43620	0.120000	0.18254	0.655000	0.94253	TGG	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005328.1		+	ENST00000376221.1	Nonsense_Mutation	SNP	1 : 12726629 - 12726629 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	663	70
BRF2	55290	broad.mit.edu	37	8	37702377	37702377	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37702377G>A	ENST00000220659.6	-	4	1011	c.891C>T	c.(889-891)atC>atT	p.I297I	GPR124_ENST00000315215.7_3'UTR|BRF2_ENST00000520601.1_3'UTR	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	297					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			GAAGGTCACCGATGTGCTTCA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	67	71			NA	NA	8		NA											NA				37702377		2203	4300	6503	SO:0001819	synonymous_variant			AF298153	CCDS6098.1	8p11.23	2013-05-29	2013-05-29		ENSG00000104221	ENSG00000104221	55290	55290			17298	protein-coding gene	gene with protein product		607013	BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like		NA	11483580, 11564744	Standard	NM_018310	NM_018310	NA	Approved	FLJ11052, BRFU, TFIIIB50	uc003xkk.3	Q9HAW0	OTTHUMG00000164025	ENST00000220659.6:c.891C>T	8.37:g.37702377G>A		NA	B2RD62|D3DSW6|Q9H2Y3|Q9H3B3|Q9NUY6	37	CCDS6098.1																																																																																			BRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376811.2		-	ENST00000220659.6	Silent	SNP	8 : 37702377 - 37702377 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	443	81
BMP1	649	broad.mit.edu	37	8	22053064	22053064	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22053064G>A	ENST00000306385.5	+	13	2399	c.1729G>A	c.(1729-1731)Ggg>Agg	p.G577R	BMP1_ENST00000397816.3_Missense_Mutation_p.G577R|BMP1_ENST00000306349.8_Missense_Mutation_p.G577R|BMP1_ENST00000397814.3_Missense_Mutation_p.G577R|BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	577	EGF-like 1; calcium-binding (Potential).				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CTGTGACCCCGGGTACGAGCT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	44	43			NA	NA	8		NA											NA				22053064		2203	4297	6500	SO:0001583	missense				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	649	649	3.4.24.19	Bone morphogenetic proteins	1067	protein-coding gene	gene with protein product	procollagen C-endopeptidase	112264	procollagen C-endopeptidase	PCOLC	NA	2004778	Standard	NM_006132	NM_006129	NA	Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1729G>A	8.37:g.22053064G>A	ENSP00000305714:p.Gly577Arg	NA	A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	37	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	31	5.080077	0.94050	.	.	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349;ENST00000397814	D;D;D;D	0.98264	-3.07;-4.83;-4.83;-4.83	5.19	5.19	0.71726	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.39341	U	0.001400	D	0.99187	0.9718	M	0.92555	3.32	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;P	0.77557	0.984;0.985;0.99;0.887	D	0.99312	1.0904	10	0.87932	D	0	.	17.476	0.87659	0.0:0.0:1.0:0.0	.	577;650;577;577	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	R	577	ENSP00000305714:G577R;ENSP00000380917:G577R;ENSP00000306121:G577R;ENSP00000380915:G577R	ENSP00000306121:G577R	G	+	1	0	BMP1	22109009	1.000000	0.71417	0.354000	0.25760	0.940000	0.58332	9.843000	0.99491	2.419000	0.82065	0.563000	0.77884	GGG	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214995.2		+	ENST00000306385.5	Missense_Mutation	SNP	8 : 22053064 - 22053064 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	544	32
PRSS16	10279	broad.mit.edu	37	6	27222622	27222622	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27222622C>T	ENST00000230582.3	+	10	1316	c.1301C>T	c.(1300-1302)cCt>cTt	p.P434L	PRSS16_ENST00000421826.2_Missense_Mutation_p.P177L|PRSS16_ENST00000377456.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	434					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GGCCAGACCCCTGGGGCTAAC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(178;1118 2105 17078 23587 44429)							NA				0													95	90	91			NA	NA	6		NA											NA				27222622		2203	4300	6503	SO:0001583	missense			AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812	10279	10279		Serine peptidases / Serine peptidases	9480	protein-coding gene	gene with protein product		607169			NA	10527559	Standard		NM_005865	NA	Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.1301C>T	6.37:g.27222622C>T	ENSP00000230582:p.Pro434Leu	NA	O75416	37	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004151	0.35320	.	.	ENSG00000112812	ENST00000421826;ENST00000230582	T;T	0.14022	2.54;2.54	4.5	3.63	0.41609	.	0.370207	0.29321	N	0.012485	T	0.09642	0.0237	L	0.56396	1.775	0.24316	N	0.995068	P;D	0.52996	0.906;0.957	P;P	0.56563	0.801;0.705	T	0.09100	-1.0690	10	0.11485	T	0.65	-18.6148	8.5839	0.33646	0.0:0.8941:0.0:0.1059	.	177;434	F2Z2N5;Q9NQE7	.;TSSP_HUMAN	L	177;434	ENSP00000404349:P177L;ENSP00000230582:P434L	ENSP00000230582:P434L	P	+	2	0	PRSS16	27330601	0.831000	0.29352	0.043000	0.18650	0.185000	0.23345	1.361000	0.34136	1.260000	0.44134	0.557000	0.71058	CCT	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043418.2		+	ENST00000230582.3	Missense_Mutation	SNP	6 : 27222622 - 27222622 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	687	123
HOXA11	3207	broad.mit.edu	37	7	27222562	27222562	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27222562G>A	ENST00000006015.3	-	2	866	c.795C>T	c.(793-795)taC>taT	p.Y265Y		NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	265					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						CTTTGTTAATGTAGACGCTGA	0.493		NA	T	NUP98	CML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		7	7p15-p14.2	3207	homeo box A11		L	0													92	94	93			NA	NA	7		NA											NA				27222562		2203	4300	6503	SO:0001819	synonymous_variant				CCDS5411.1	7p15.2	2014-09-17	2005-12-22		ENSG00000005073	ENSG00000005073	3207	3207		Homeoboxes / ANTP class : HOXL subclass	5101	protein-coding gene	gene with protein product		142958	homeo box A11	HOX1I, HOX1	NA	1973146, 1358459	Standard		NM_005523	NA	Approved		uc003syx.3	P31270	OTTHUMG00000023437	ENST00000006015.3:c.795C>T	7.37:g.27222562G>A		NA	A4D190	37	CCDS5411.1	.	.	.	.	.	.	.	.	.	.	G	6.399	0.441812	0.12164	.	.	ENSG00000005073	ENST00000517402	.	.	.	5.91	-1.18	0.09617	.	.	.	.	.	T	0.58090	0.2098	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55296	-0.8163	4	.	.	.	.	11.4646	0.50230	0.5571:0.0:0.4429:0.0	.	.	.	.	I	235	.	.	T	-	2	0	HOXA11	27189087	1.000000	0.71417	0.995000	0.50966	0.926000	0.56050	1.168000	0.31859	-0.109000	0.12044	-0.982000	0.02568	ACA	HOXA11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358754.1		-	ENST00000006015.3	Silent	SNP	7 : 27222562 - 27222562 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	718	133
ULK1	8408	broad.mit.edu	37	12	132405897	132405897	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132405897C>A	ENST00000321867.4	+	28	3495	c.3144C>A	c.(3142-3144)atC>atA	p.I1048I	ULK1_ENST00000540647.1_Silent_p.I293I	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	1048					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		TGACTGGCATCTGTGCCTGAC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	116	117			NA	NA	12		NA											NA				132405897		2203	4300	6503	SO:0001819	synonymous_variant			AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169	8408	8408			12558	protein-coding gene	gene with protein product	ATG1 autophagy related 1 homolog (S. cerevisiae)	603168	unc-51 (C. elegans)-like kinase 1, unc-51-like kinase 1 (C. elegans)		NA	9693035	Standard		NM_003565	NA	Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.3144C>A	12.37:g.132405897C>A		NA	Q9UQ28	37	CCDS9274.1																																																																																			ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397769.3		+	ENST00000321867.4	Silent	SNP	12 : 132405897 - 132405897 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	953	256
ZNF354A	6940	broad.mit.edu	37	5	178139568	178139568	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178139568A>C	ENST00000335815.2	-	5	1508	c.1311T>G	c.(1309-1311)ttT>ttG	p.F437L		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	437				F -> Y (in Ref. 1; BAA25182).	regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		TACAATTATAAAACTTCTCTC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	82	80			NA	NA	5		NA											NA				178139568		2203	4300	6503	SO:0001583	missense			AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131	6940	6940		Zinc fingers, C2H2-type, -	11628	protein-coding gene	gene with protein product		602444		TCF17	NA	9465904	Standard	NM_005649	NM_005649	NA	Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.1311T>G	5.37:g.178139568A>C	ENSP00000337122:p.Phe437Leu	NA	Q9UNJ8	37	CCDS4438.1	.	.	.	.	.	.	.	.	.	.	A	12.84	2.058668	0.36277	.	.	ENSG00000169131	ENST00000335815	T	0.16897	2.31	4.71	-0.432	0.12291	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.257680	0.20616	N	0.088869	T	0.03564	0.0102	N	0.00459	-1.475	0.32908	D	0.514063	B	0.06786	0.001	B	0.06405	0.002	T	0.19451	-1.0305	10	0.42905	T	0.14	-4.5652	5.5901	0.17297	0.3554:0.4687:0.1759:0.0	.	437	O60765	Z354A_HUMAN	L	437	ENSP00000337122:F437L	ENSP00000337122:F437L	F	-	3	2	ZNF354A	178072174	0.001000	0.12720	0.999000	0.59377	0.794000	0.44872	-0.793000	0.04589	0.062000	0.16340	-0.375000	0.07067	TTT	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253481.1		-	ENST00000335815.2	Missense_Mutation	SNP	5 : 178139568 - 178139568 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	610	112
TMPRSS7	344805	broad.mit.edu	37	3	111782371	111782371	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111782371G>T	ENST00000452346.2	+	12	1450		c.e12-1		TMPRSS7_ENST00000419127.1_Splice_Site			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	NA					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GTTGCCCATAGCCTGCCCTGT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													217	199	205			NA	NA	3		NA											NA				111782371		1898	4117	6015	SO:0001630	splice_region_variant			BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040	344805	344805		Serine peptidases / Transmembrane	30846	protein-coding gene	gene with protein product			type II transmembrane serine protease 7		NA	12838346	Standard	XM_293599	NM_001042575	NA	Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.1448-1G>T	3.37:g.111782371G>T		NA	C9J8P7|E9PAS3|Q17RH4	37		.	.	.	.	.	.	.	.	.	.	G	16.11	3.030445	0.54790	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6344	0.85042	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMPRSS7	113265061	1.000000	0.71417	0.995000	0.50966	0.611000	0.37282	6.145000	0.71769	2.670000	0.90874	0.563000	0.77884	.	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000347592.2	Intron	+	ENST00000452346.2	Splice_Site	SNP	3 : 111782371 - 111782371 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	920	175
SERTAD2	9792	broad.mit.edu	37	2	64863365	64863365	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64863365C>A	ENST00000313349.3	-	2	938	c.641G>T	c.(640-642)aGc>aTc	p.S214I		NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	214					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						ATCTGCGCGGCTCTCTTGAGG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	69	68			NA	NA	2		NA											NA				64863365		2203	4300	6503	SO:0001583	missense			D50917	CCDS33210.1	2p15	2007-05-01			ENSG00000179833	ENSG00000179833	9792	9792			30784	protein-coding gene	gene with protein product	transcriptional regulator interacting with the PHS-bromodomain 2				NA	8590280, 11331592	Standard	NM_014755	NM_014755	NA	Approved	TRIP-Br2, KIAA0127, Sei-2	uc002sde.2	Q14140	OTTHUMG00000152678	ENST00000313349.3:c.641G>T	2.37:g.64863365C>A	ENSP00000326933:p.Ser214Ile	NA	Q53TS2	37	CCDS33210.1	.	.	.	.	.	.	.	.	.	.	C	8.585	0.883156	0.17467	.	.	ENSG00000179833	ENST00000313349	.	.	.	5.63	5.63	0.86233	.	0.574803	0.20833	N	0.084854	T	0.46367	0.1389	L	0.27053	0.805	0.51482	D	0.999923	B	0.34103	0.437	B	0.23852	0.049	T	0.48917	-0.8992	9	0.56958	D	0.05	0.7719	19.6719	0.95915	0.0:1.0:0.0:0.0	.	214	Q14140	SRTD2_HUMAN	I	214	.	ENSP00000326933:S214I	S	-	2	0	SERTAD2	64716869	0.996000	0.38824	0.995000	0.50966	0.285000	0.27093	2.509000	0.45459	2.647000	0.89833	0.655000	0.94253	AGC	SERTAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327322.2		-	ENST00000313349.3	Missense_Mutation	SNP	2 : 64863365 - 64863365 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	612	118
ERN1	2081	broad.mit.edu	37	17	62130142	62130142	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62130142G>A	ENST00000433197.3	-	17	2346	c.2251C>T	c.(2251-2253)Cct>Tct	p.P751S		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	NA	Protein kinase.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TTACTCACAGGGTTCTCCTTA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	58	58			NA	NA	17		NA											NA				62130142		1930	4138	6068	SO:0001583	missense			AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607	2081	2081			3449	protein-coding gene	gene with protein product	inositol-requiring enzyme 1	604033	ER to nucleus signalling 1		NA	9637683	Standard	NM_001433	NM_001433	NA	Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.2251C>T	17.37:g.62130142G>A	ENSP00000401445:p.Pro751Ser	NA	A1L457|A8K8N8|A8MXS7|Q59EE2	37	CCDS45762.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371479	0.61624	.	.	ENSG00000178607	ENST00000433197	T	0.48836	0.8	5.49	5.49	0.81192	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.38904	0.1058	N	0.19112	0.55	0.80722	D	1	B	0.21071	0.051	B	0.29716	0.106	T	0.14504	-1.0470	10	0.21540	T	0.41	-16.6814	19.3787	0.94523	0.0:0.0:1.0:0.0	.	751	O75460	ERN1_HUMAN	S	751	ENSP00000401445:P751S	ENSP00000401445:P751S	P	-	1	0	ERN1	59483874	1.000000	0.71417	0.998000	0.56505	0.753000	0.42808	9.286000	0.95898	2.588000	0.87417	0.205000	0.17691	CCT	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443734.2		-	ENST00000433197.3	Missense_Mutation	SNP	17 : 62130142 - 62130142 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	196	34
CHST2	9435	broad.mit.edu	37	3	142840537	142840537	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142840537G>T	ENST00000309575.3	+	2	2263	c.879G>T	c.(877-879)gaG>gaT	p.E293D		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	293					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GTTTCGAGGAGGAGTGCCGCA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	26	25			NA	NA	3		NA											NA				142840537		2197	4298	6495	SO:0001583	missense			BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040	9435	9435		Sulfotransferases, membrane-bound	1970	protein-coding gene	gene with protein product		603798			NA	10049591	Standard	NM_004267	NM_004267	NA	Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.879G>T	3.37:g.142840537G>T	ENSP00000307911:p.Glu293Asp	NA	D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	37	CCDS3129.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.592743	0.66219	.	.	ENSG00000175040	ENST00000309575	D	0.96554	-4.05	4.38	0.464	0.16706	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000001	D	0.96065	0.8718	L	0.53561	1.675	0.39569	D	0.969251	D	0.61080	0.989	D	0.64321	0.924	D	0.93768	0.7072	10	0.45353	T	0.12	-18.7552	8.4754	0.33009	0.3951:0.0:0.6049:0.0	.	293	Q9Y4C5	CHST2_HUMAN	D	293	ENSP00000307911:E293D	ENSP00000307911:E293D	E	+	3	2	CHST2	144323227	0.999000	0.42202	1.000000	0.80357	0.939000	0.58152	0.494000	0.22467	0.143000	0.18926	-0.481000	0.04817	GAG	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354850.1		+	ENST00000309575.3	Missense_Mutation	SNP	3 : 142840537 - 142840537 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	77	19
PKM	5315	broad.mit.edu	37	15	72501087	72501087	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72501087A>G	ENST00000319622.6	-	6	1167	c.711T>C	c.(709-711)gtT>gtC	p.V237V	PKM_ENST00000449901.2_Silent_p.V222V|PKM_ENST00000389093.3_Silent_p.V237V|PKM_ENST00000335181.5_Silent_p.V237V|PKM_ENST00000568883.1_Silent_p.V72V|PKM_ENST00000565184.1_Silent_p.V237V|PKM_ENST00000565154.1_Silent_p.V237V|PKM_ENST00000568459.1_Silent_p.V237V	NM_001206796.1|NM_182470.2|NM_182471.2	NP_001193725.1|NP_872270.1|NP_872271.1			pyruvate kinase, muscle	NA										endometrium(1)|lung(7)	8						ACACCATATCAACATCCTGCT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													183	163	170			NA	NA	15		NA											NA				72501087		2199	4297	6496	SO:0001819	synonymous_variant			M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	5315	5315	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2	NA	2040271	Standard		NM_002654	NA	Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000319622.6:c.711T>C	15.37:g.72501087A>G		NA		37	CCDS32285.1																																																																																			PKM-201	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000420062.1		-	ENST00000319622.6	Silent	SNP	15 : 72501087 - 72501087 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	884	81
TCF4	6925	broad.mit.edu	37	18	52901874	52901874	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:52901874C>A	ENST00000561992.1	-	12	1399	c.1001G>T	c.(1000-1002)aGc>aTc	p.S334I	TCF4_ENST00000567880.1_Missense_Mutation_p.S404I|TCF4_ENST00000561831.3_Missense_Mutation_p.S304I|TCF4_ENST00000544241.2_Missense_Mutation_p.S393I|TCF4_ENST00000566286.1_Missense_Mutation_p.S461I|TCF4_ENST00000566279.1_Missense_Mutation_p.S404I|TCF4_ENST00000457482.3_Missense_Mutation_p.S304I|TCF4_ENST00000537578.1_Missense_Mutation_p.S440I|TCF4_ENST00000570177.2_Missense_Mutation_p.S334I|TCF4_ENST00000570287.2_Missense_Mutation_p.S304I|TCF4_ENST00000565018.2_Missense_Mutation_p.S464I|TCF4_ENST00000564999.1_Missense_Mutation_p.S464I|TCF4_ENST00000398339.1_Missense_Mutation_p.S566I|TCF4_ENST00000354452.3_Missense_Mutation_p.S464I|TCF4_ENST00000564228.1_Missense_Mutation_p.S393I|TCF4_ENST00000543082.1_Missense_Mutation_p.S422I|TCF4_ENST00000356073.4_Missense_Mutation_p.S464I|TCF4_ENST00000564403.2_Missense_Mutation_p.S470I|TCF4_ENST00000540999.1_Missense_Mutation_p.S440I|TCF4_ENST00000568673.1_Missense_Mutation_p.S440I|TCF4_ENST00000568740.1_Missense_Mutation_p.S439I|TCF4_ENST00000537856.3_Missense_Mutation_p.S334I	NM_001243233.1	NP_001230162.1	P15884	ITF2_HUMAN	transcription factor 4	464				P -> S (in Ref. 7; CAA36298).	positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AAGAGAATGGCTGCCTCTCAG	0.597		NA									OREG0024990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	111	110			NA	NA	18		NA											NA				52901874		2203	4300	6503	SO:0001583	missense			M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628	6925	6925		Basic helix-loop-helix proteins	11634	protein-coding gene	gene with protein product		602272			NA	9302263, 2308860	Standard	NM_003199	NM_001083962	NA	Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000561992.1:c.1001G>T	18.37:g.52901874C>A	ENSP00000455179:p.Ser334Ile	988	B4DT37|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	37	CCDS58626.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177483	0.78564	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31	5.5	5.5	0.81552	.	0.044173	0.85682	D	0.000000	T	0.70902	0.3277	L	0.55213	1.73	0.53688	D	0.999972	P;D;P;D;B;P;P;P;P	0.61080	0.69;0.98;0.887;0.989;0.072;0.713;0.713;0.936;0.744	P;P;P;P;B;B;P;B;B	0.61201	0.536;0.844;0.474;0.885;0.015;0.434;0.467;0.367;0.272	T	0.72340	-0.4323	10	0.72032	D	0.01	-8.8053	18.543	0.91037	0.0:1.0:0.0:0.0	.	440;464;304;566;464;422;393;304;461	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	I	464;304;464;422;440;440;393;334;566	ENSP00000346440:S464I;ENSP00000409447:S304I;ENSP00000348374:S464I;ENSP00000439656:S422I;ENSP00000445202:S440I;ENSP00000440731:S440I;ENSP00000441562:S393I;ENSP00000439827:S334I;ENSP00000381382:S566I	ENSP00000346440:S464I	S	-	2	0	TCF4	51052872	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.770000	0.55310	2.758000	0.94735	0.563000	0.77884	AGC	TCF4-010	PUTATIVE	alternative_5_UTR|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421639.1		-	ENST00000561992.1	Missense_Mutation	SNP	18 : 52901874 - 52901874 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	623	87
SULT6B1	391365	broad.mit.edu	37	2	37415634	37415634	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37415634G>T	ENST00000407963.1	-	2	139	c.36C>A	c.(34-36)acC>acA	p.T12T	SULT6B1_ENST00000260637.3_Silent_p.T12T|SULT6B1_ENST00000535679.1_Silent_p.T50T|SULT6B1_ENST00000379149.2_Silent_p.T50T			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	50						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				TGGCTTCGAAGGTGTCCAGCG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													213	183	193			NA	NA	2		NA											NA				37415634		2203	4300	6503	SO:0001819	synonymous_variant			AY289770, AY289774	CCDS33182.1	2p22.2	2007-07-26			ENSG00000138068	ENSG00000138068	391365	391365		Sulfotransferases, cytosolic	33433	protein-coding gene	gene with protein product					NA	14676822	Standard	NM_001032377	XM_005264307	NA	Approved		uc002rpu.3	Q6IMI4	OTTHUMG00000152160	ENST00000407963.1:c.36C>A	2.37:g.37415634G>T		NA	B2RTS7	37	CCDS33182.1																																																																																			SULT6B1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325505.1		-	ENST00000407963.1	Silent	SNP	2 : 37415634 - 37415634 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	536	13
TRIM33	51592	broad.mit.edu	37	1	114948188	114948188	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114948188G>A	ENST00000358465.2	-	15	2695	c.2612C>T	c.(2611-2613)tCg>tTg	p.S871L	TRIM33_ENST00000476908.1_5'UTR|TRIM33_ENST00000369543.2_Missense_Mutation_p.S871L|TRIM33_ENST00000450349.2_Missense_Mutation_p.S503L	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	871					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATCCTTGCCGACCTGTGCAT	0.468		NA	T	RET	papillary thyroid									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1p13	51592	 tripartite motif-containing 33 (PTC7,TIF1G)		E	0													221	197	205			NA	NA	1		NA											NA				114948188		2203	4300	6503	SO:0001583	missense			AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323	51592	51592		Tripartite motif containing / Tripartite motif containing, Zinc fingers, PHD-type, RING-type (C3HC4) zinc fingers	16290	protein-coding gene	gene with protein product	transcriptional intermediary factor 1 gamma, ret-fused gene 7	605769	tripartite motif-containing 33		NA	11331580, 10022127	Standard	NM_015906	XM_005270936	NA	Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.2612C>T	1.37:g.114948188G>A	ENSP00000351250:p.Ser871Leu	NA	O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	37	CCDS872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.38|17.38	3.376244|3.376244	0.61735|0.61735	.|.	.|.	ENSG00000197323|ENSG00000197323	ENST00000448034|ENST00000358465;ENST00000369543;ENST00000450349	.|T;T;T	.|0.77098	.|-0.93;-0.79;-1.07	5.29|5.29	5.29|5.29	0.74685|0.74685	.|Zinc finger, FYVE/PHD-type (1);	.|0.429133	.|0.25801	.|N	.|0.028201	T|T	0.57946|0.57946	0.2088|0.2088	L|L	0.32530|0.32530	0.975|0.975	0.48288|0.48288	D|D	0.999627|0.999627	.|P;P;B;P;P	.|0.42692	.|0.7;0.748;0.021;0.787;0.682	.|B;B;B;B;B	.|0.32583	.|0.113;0.104;0.016;0.148;0.07	T|T	0.66571|0.66571	-0.5890|-0.5890	5|10	.|0.49607	.|T	.|0.09	-2.905|-2.905	19.2948|19.2948	0.94118|0.94118	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|503;503;66;871;871	.|E7EN20;B3KN30;Q9HAL0;Q9UPN9-2;Q9UPN9	.|.;.;.;.;TRI33_HUMAN	W|L	632|871;871;503	.|ENSP00000351250:S871L;ENSP00000358556:S871L;ENSP00000412077:S503L	.|ENSP00000351250:S871L	R|S	-|-	1|2	2|0	TRIM33|TRIM33	114749711|114749711	1.000000|1.000000	0.71417|0.71417	0.787000|0.787000	0.31911|0.31911	0.903000|0.903000	0.53119|0.53119	8.995000|8.995000	0.93534|0.93534	2.636000|2.636000	0.89361|0.89361	0.491000|0.491000	0.48974|0.48974	CGG|TCG	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032854.1		-	ENST00000358465.2	Missense_Mutation	SNP	1 : 114948188 - 114948188 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	890	191
FAM69B	138311	broad.mit.edu	37	9	139617866	139617866	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139617866G>A	ENST00000371691.1	+	3	1774	c.675G>A	c.(673-675)aaG>aaA	p.K225K	SNHG7_ENST00000414282.1_RNA|FAM69B_ENST00000371692.4_Silent_p.K312K			Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	312						endoplasmic reticulum membrane|integral to membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		ACGACTTCAAGATGGCCGACC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	38	38			NA	NA	9		NA											NA				139617866		2203	4299	6502	SO:0001819	synonymous_variant				CCDS7004.1	9q34.3	2012-08-03			ENSG00000165716	ENSG00000165716	138311	138311			28290	protein-coding gene	gene with protein product		614543			NA	21334309	Standard	NM_152421	NM_152421	NA	Approved	MGC20262, C9orf136	uc004cik.3	Q5VUD6	OTTHUMG00000020940	ENST00000371691.1:c.675G>A	9.37:g.139617866G>A		NA	Q8N5N0|Q8WYU5	37																																																																																				FAM69B-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000055103.1		+	ENST00000371691.1	Silent	SNP	9 : 139617866 - 139617866 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	243	33
RAB5A	5868	broad.mit.edu	37	3	19992405	19992405	+	Silent	SNP	C	C	T	rs111819761	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:19992405C>T	ENST00000422242.1	+	2	225	c.15C>T	c.(13-15)ggC>ggT	p.G5G	RAB5A_ENST00000273047.4_Silent_p.G5G			P20339	RAB5A_HUMAN	RAB5A, member RAS oncogene family	5					blood coagulation|protein transport|receptor internalization|regulation of filopodium assembly|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GDP binding|GTP binding|GTPase activity			lung(1)|urinary_tract(1)	2						CTAGTCGAGGCGCAACAAGAC	0.438		NA											C	16	0.01	0.03	NA	2184	NA	0.9998	,	,	NA	2e-04	NA	NA	NA	0.0074	0.9883	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0								C		31,4375	36.8+/-68.6	0,31,2172	61	62	62		15	2.1	1	3	dbSNP_132	62	0,8600		0,0,4300	no	coding-synonymous	RAB5A	NM_004162.4		0,31,6472	TT,TC,CC	NA	0.0,0.7036,0.2384		5/216	19992405	31,12975	2203	4300	6503	SO:0001819	synonymous_variant				CCDS2633.1	3p24-p22	2008-07-18			ENSG00000144566	ENSG00000144566	5868	5868		RAB, member RAS oncogene	9783	protein-coding gene	gene with protein product	RAS-associated protein RAB5A	179512		RAB5	NA	1999336	Standard	NM_004162	NM_004162	NA	Approved		uc003cbn.3	P20339	OTTHUMG00000129889	ENST00000422242.1:c.15C>T	3.37:g.19992405C>T		NA		37																																																																																				RAB5A-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000339744.1		+	ENST00000422242.1	Silent	SNP	3 : 19992405 - 19992405 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	403	71
FDFT1	2222	broad.mit.edu	37	8	11687884	11687884	+	Silent	SNP	G	G	A	rs150271048	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11687884G>A	ENST00000530664.1	+	6	1110	c.642G>A	c.(640-642)tcG>tcA	p.S214S	FDFT1_ENST00000538689.1_Silent_p.S167S|FDFT1_ENST00000528643.1_Silent_p.S193S|FDFT1_ENST00000528812.1_Silent_p.S214S|FDFT1_ENST00000220584.4_Silent_p.S278S|FDFT1_ENST00000525777.1_Silent_p.S193S|FDFT1_ENST00000443614.2_Silent_p.S235S|FDFT1_ENST00000525900.1_Silent_p.S271S|FDFT1_ENST00000446331.2_3'UTR			P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	278					cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		CCTACCTTTCGAGACTCAGAA	0.502		NA											G	6	0.0027	0.01	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0027	1	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0								G		2,4404	4.2+/-10.8	0,2,2201	175	152	160		834	-11.3	0	8	dbSNP_134	160	0,8600		0,0,4300	no	coding-synonymous	FDFT1	NM_004462.3		0,2,6501	AA,AG,GG	NA	0.0,0.0454,0.0154		278/418	11687884	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			X69141	CCDS5985.1, CCDS75696.1, CCDS75697.1	8p23.1-p22	2005-03-07			ENSG00000079459	ENSG00000079459	2222	2222	2.5.1.21		3629	protein-coding gene	gene with protein product	squalene synthase	184420			NA		Standard		NM_001287742	NA	Approved		uc003wui.3	P37268	OTTHUMG00000090801	ENST00000530664.1:c.642G>A	8.37:g.11687884G>A		NA	Q96GT0	37																																																																																				FDFT1-009	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000383678.1		+	ENST00000530664.1	Silent	SNP	8 : 11687884 - 11687884 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	590	111
GGA3	23163	broad.mit.edu	37	17	73239206	73239206	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73239206G>T	ENST00000582486.1	-	6	505	c.250C>A	c.(250-252)Ctg>Atg	p.L84M	GGA3_ENST00000351904.7_Missense_Mutation_p.L123M|GGA3_ENST00000582717.1_Missense_Mutation_p.L84M|GGA3_ENST00000245541.6_Missense_Mutation_p.L156M|GGA3_ENST00000578348.1_Missense_Mutation_p.L34M|GGA3_ENST00000537686.1_Intron|GGA3_ENST00000538886.1_Missense_Mutation_p.L34M	NM_001172703.1	NP_001166174.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	156	Binds to ARF1 (in long isoform).|VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GAGGGGATCAGCGTCCTATCC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													223	186	198			NA	NA	17		NA											NA				73239206		2203	4300	6503	SO:0001583	missense			AF190864	CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1	17q25	2010-02-12	2010-02-12			ENSG00000125447	23163	23163			17079	protein-coding gene	gene with protein product		606006			NA	10747089, 10749927	Standard	NM_138619	NR_033345	NA	Approved	KIAA0154	uc002jni.2	Q9NZ52		ENST00000582486.1:c.250C>A	17.37:g.73239206G>T	ENSP00000462629:p.Leu84Met	NA	Q15017|Q6IS16|Q9UJY3	37		.	.	.	.	.	.	.	.	.	.	G	13.20	2.166671	0.38217	.	.	ENSG00000125447	ENST00000245541;ENST00000351904;ENST00000537584;ENST00000538886	T;T	0.52295	2.04;0.67	4.85	3.88	0.44766	.	0.000000	0.64402	D	0.000001	T	0.63141	0.2486	M	0.63843	1.955	0.80722	D	1	D;P;D	0.89917	1.0;0.723;0.988	D;P;P	0.87578	0.998;0.64;0.798	T	0.61407	-0.7069	10	0.33141	T	0.24	-16.506	13.0458	0.58925	0.0775:0.0:0.9225:0.0	.	34;123;156	B7Z7E2;Q9NZ52-2;Q9NZ52	.;.;GGA3_HUMAN	M	156;123;84;34	ENSP00000245541:L156M;ENSP00000326575:L123M	ENSP00000245541:L156M	L	-	1	2	GGA3	70750801	0.999000	0.42202	0.986000	0.45419	0.984000	0.73092	2.840000	0.48215	1.256000	0.44068	0.563000	0.77884	CTG	GGA3-006	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000446649.1		-	ENST00000582486.1	Missense_Mutation	SNP	17 : 73239206 - 73239206 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	512	100
KMT2B	9757	broad.mit.edu	37	19	36220146	36220146	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36220146C>T	ENST00000222270.7	+	22	4866	c.4866C>T	c.(4864-4866)aaC>aaT	p.N1622N	KMT2B_ENST00000420124.1_Silent_p.N1622N|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1			lysine (K)-specific methyltransferase 2B	NA											NA						TCGAGGAGAACGACGGCTCCC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	47	47			NA	NA	19		NA											NA				36220146		2136	4243	6379	SO:0001819	synonymous_variant			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333	9757	9757		Chromatin-modifying enzymes / K-methyltransferases	15840	protein-coding gene	gene with protein product	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4	606834			NA	10409430, 10637508	Standard	NM_014727	XM_006723513	NA	Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.4866C>T	19.37:g.36220146C>T		NA		37	CCDS46055.1																																																																																			KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding			+	ENST00000222270.7	Silent	SNP	19 : 36220146 - 36220146 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	81	19
SERAC1	84947	broad.mit.edu	37	6	158564142	158564142	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158564142C>A	ENST00000367104.3	-	8	815	c.684G>T	c.(682-684)caG>caT	p.Q228H	SERAC1_ENST00000367102.2_Missense_Mutation_p.Q228H|SERAC1_ENST00000367101.1_Missense_Mutation_p.Q228H	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	228					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		ATGTAAAATACTGGATACACT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	123	125			NA	NA	6		NA											NA				158564142		2203	4300	6503	SO:0001583	missense			BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335	84947	84947			21061	protein-coding gene	gene with protein product		614725			NA		Standard	NM_032861	NM_032861	NA	Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.684G>T	6.37:g.158564142C>A	ENSP00000356071:p.Gln228His	NA	Q49AT1|Q5VTX3|Q6PKF3	37	CCDS5255.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319136	0.60524	.	.	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000367101	T;T;T	0.48201	0.82;0.82;0.82	5.79	3.09	0.35607	Armadillo-like helical (1);Armadillo-type fold (1);	0.159951	0.56097	D	0.000022	T	0.48003	0.1476	M	0.63428	1.95	0.52501	D	0.999957	D	0.76494	0.999	D	0.66497	0.944	T	0.52034	-0.8629	10	0.87932	D	0	-11.4575	7.6555	0.28373	0.0:0.6056:0.0:0.3944	.	228	Q96JX3	SRAC1_HUMAN	H	228	ENSP00000356069:Q228H;ENSP00000356071:Q228H;ENSP00000356068:Q228H	ENSP00000356068:Q228H	Q	-	3	2	SERAC1	158484130	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	1.136000	0.31467	0.439000	0.26476	0.455000	0.32223	CAG	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042862.1		-	ENST00000367104.3	Missense_Mutation	SNP	6 : 158564142 - 158564142 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	402	81
SLC6A6	6533	broad.mit.edu	37	3	14518771	14518771	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14518771G>T	ENST00000454876.2	+	11	1597	c.1268G>T	c.(1267-1269)aGg>aTg	p.R423M	SLC6A6_ENST00000360861.3_Missense_Mutation_p.R423M			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	423					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						TCCTTCCTAAGGAAGGGTTAT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													197	161	173			NA	NA	3		NA											NA				14518771		2203	4300	6503	SO:0001583	missense				CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389	6533	6533		Solute carriers	11052	protein-coding gene	gene with protein product	taurine transporter	186854	solute carrier family 6 (neurotransmitter transporter, taurine), member 6		NA	8010975, 8382624	Standard	NM_003043	XM_006713307	NA	Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.1268G>T	3.37:g.14518771G>T	ENSP00000398063:p.Arg423Met	NA	Q9BXB0	37	CCDS33705.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325558	0.81580	.	.	ENSG00000131389	ENST00000454876;ENST00000360861	T;T	0.76060	-0.99;-0.99	4.73	4.73	0.59995	.	0.132495	0.64402	D	0.000002	D	0.87313	0.6146	M	0.83852	2.665	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.89565	0.3809	10	0.87932	D	0	.	18.0768	0.89430	0.0:0.0:1.0:0.0	.	423	P31641	SC6A6_HUMAN	M	423	ENSP00000398063:R423M;ENSP00000354107:R423M	ENSP00000354107:R423M	R	+	2	0	SLC6A6	14493775	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.790000	0.85794	2.325000	0.78763	0.491000	0.48974	AGG	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340507.1		+	ENST00000454876.2	Missense_Mutation	SNP	3 : 14518771 - 14518771 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	502	103
ZNF281	23528	broad.mit.edu	37	1	200377323	200377323	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200377323C>T	ENST00000294740.3	-	2	1635	c.1511G>A	c.(1510-1512)gGc>gAc	p.G504D	ZNF281_ENST00000367353.1_Missense_Mutation_p.G504D|ZNF281_ENST00000367352.3_Missense_Mutation_p.G468D	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	NA					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						TGATACTATGCCAAGTGAGCC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	81	82			NA	NA	1		NA											NA				200377323		2203	4300	6503	SO:0001583	missense			AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702	23528	23528		Zinc fingers, C2H2-type	13075	protein-coding gene	gene with protein product					NA	10448078	Standard	NM_012482	NM_012482	NA	Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.1511G>A	1.37:g.200377323C>T	ENSP00000294740:p.Gly504Asp	NA	Q9NY92	37	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.556407	0.00910	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.26518	1.73;1.73;1.73	5.63	5.63	0.86233	.	0.173579	0.49305	D	0.000144	T	0.11793	0.0287	N	0.05383	-0.06	0.40018	D	0.975371	B;B	0.25272	0.122;0.122	B;B	0.23852	0.049;0.049	T	0.09037	-1.0693	10	0.02654	T	1	-8.8136	12.9562	0.58430	0.0:0.9262:0.0:0.0738	.	468;504	A6NF48;Q9Y2X9	.;ZN281_HUMAN	D	504;504;468;209	ENSP00000294740:G504D;ENSP00000356322:G504D;ENSP00000356321:G468D	ENSP00000294740:G504D	G	-	2	0	ZNF281	198643946	1.000000	0.71417	0.975000	0.42487	0.945000	0.59286	4.300000	0.59079	2.641000	0.89580	0.650000	0.86243	GGC	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086879.2		-	ENST00000294740.3	Missense_Mutation	SNP	1 : 200377323 - 200377323 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	92
SIGMAR1	10280	broad.mit.edu	37	9	34635839	34635839	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34635839G>A	ENST00000378892.1	-	3	622	c.195C>T	c.(193-195)caC>caT	p.H65H	SIGMAR1_ENST00000477726.1_Silent_p.H123H|SIGMAR1_ENST00000277010.4_Silent_p.H154H|SIGMAR1_ENST00000461426.1_5'UTR			Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	154					ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding			large_intestine(1)|lung(1)	2					Dextromethorphan(DB00514)	CACCAGGCCCGTGTACTACCG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	69	70			NA	NA	9		NA											NA				34635839		2203	4300	6503	SO:0001819	synonymous_variant			BC004899	CCDS6562.1, CCDS6563.1	9p13.3	2008-12-18	2008-12-18	2008-12-18	ENSG00000147955	ENSG00000147955	10280	10280			8157	protein-coding gene	gene with protein product		601978	opioid receptor, sigma 1	OPRS1	NA	8954936, 9453537	Standard	NM_005866	NM_005866	NA	Approved	SR-BP1	uc003zvb.3	Q99720	OTTHUMG00000019829	ENST00000378892.1:c.195C>T	9.37:g.34635839G>A		NA	D3DRM7|O00673|O00725|Q0Z9W6|Q153Z1|Q2TSD1|Q53GN2|Q7Z653|Q8N7H3|Q9NYX0	37																																																																																				SIGMAR1-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000052205.1		-	ENST00000378892.1	Silent	SNP	9 : 34635839 - 34635839 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	311	44
ZNF768	79724	broad.mit.edu	37	16	30536376	30536376	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30536376C>T	ENST00000380412.5	-	2	1260	c.1085G>A	c.(1084-1086)cGa>cAa	p.R362Q	ZNF768_ENST00000562803.1_Missense_Mutation_p.R331Q	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	362					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GCGCTGGTGTCGCAGGAGGTA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	44	44			NA	NA	16		NA											NA				30536376		2197	4300	6497	SO:0001583	missense			BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957	79724	79724		Zinc fingers, C2H2-type	26273	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024671	NM_024671	NA	Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.1085G>A	16.37:g.30536376C>T	ENSP00000369777:p.Arg362Gln	NA	Q569L7|Q96CX4	37	CCDS10681.2	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205440	0.39003	.	.	ENSG00000169957	ENST00000380412;ENST00000538507	T	0.07216	3.21	4.55	4.55	0.56014	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37012	N	0.002285	T	0.03564	0.0102	L	0.28458	0.855	0.28164	N	0.928832	P	0.40360	0.714	B	0.29176	0.099	T	0.23190	-1.0195	10	0.02654	T	1	-7.1639	5.7035	0.17895	0.1955:0.7065:0.0:0.098	.	362	Q9H5H4	ZN768_HUMAN	Q	362;275	ENSP00000369777:R362Q	ENSP00000369777:R362Q	R	-	2	0	ZNF768	30443877	0.000000	0.05858	1.000000	0.80357	0.908000	0.53690	-1.355000	0.02612	2.384000	0.81235	0.205000	0.17691	CGA	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255522.2		-	ENST00000380412.5	Missense_Mutation	SNP	16 : 30536376 - 30536376 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	252	9
ST3GAL4	6484	broad.mit.edu	37	11	126278040	126278040	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126278040C>T	ENST00000526727.1	+	6	762	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	ST3GAL4_ENST00000356132.4_Missense_Mutation_p.R136W|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.R125W|ST3GAL4_ENST00000526756.1_3'UTR|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.R126W|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.R126W|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.R130W|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.R119W|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.R130W|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.R130W|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.R129W			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	130					post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		GCACCGGCTGCGGAACAGCTC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	143	143			NA	NA	11		NA											NA				126278040		2201	4298	6499	SO:0001583	missense			X74570	CCDS8474.1, CCDS58193.1, CCDS58194.1	11q23-q24	2013-03-01	2003-01-14	2005-02-07	ENSG00000110080	ENSG00000110080	6484	6484	2.4.99.4	Sialyltransferases	10864	protein-coding gene	gene with protein product	ST3Gal IV	104240	sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase)	CGS23, SIAT4, NANTA3, SIAT4C	NA	8557707, 8288606	Standard	NM_006278	NM_006278	NA	Approved	STZ, SAT3, FLJ11867	uc001qds.3	Q11206	OTTHUMG00000165830	ENST00000526727.1:c.388C>T	11.37:g.126278040C>T	ENSP00000436047:p.Arg130Trp	NA	A8K6B2|O60497|Q96QQ9	37	CCDS58193.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812726	0.50527	.	.	ENSG00000110080	ENST00000227495;ENST00000444328;ENST00000356132;ENST00000530591;ENST00000534083;ENST00000528858;ENST00000392669;ENST00000526727;ENST00000449406;ENST00000532243;ENST00000534457	T;T;T;T;T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41	5.19	3.17	0.36434	.	.	.	.	.	T	0.50171	0.1600	M	0.64404	1.975	0.28631	N	0.90763	D;D	0.64830	0.994;0.994	D;D	0.65233	0.933;0.933	T	0.46803	-0.9165	9	0.72032	D	0.01	.	13.6837	0.62502	0.3868:0.6132:0.0:0.0	.	126;130	Q6IBE6;Q11206	.;SIA4C_HUMAN	W	126;130;136;126;130;130;130;130;119;129;125	ENSP00000227495:R126W;ENSP00000394354:R130W;ENSP00000348451:R136W;ENSP00000433989:R126W;ENSP00000433318:R130W;ENSP00000432424:R130W;ENSP00000376437:R130W;ENSP00000436047:R130W;ENSP00000399444:R119W;ENSP00000434349:R129W;ENSP00000434668:R125W	ENSP00000227495:R126W	R	+	1	2	ST3GAL4	125783250	0.964000	0.33143	0.510000	0.27712	0.212000	0.24457	2.227000	0.42972	1.287000	0.44583	0.561000	0.74099	CGG	ST3GAL4-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386470.1		+	ENST00000526727.1	Missense_Mutation	SNP	11 : 126278040 - 126278040 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	415	69
SERPINB13	5275	broad.mit.edu	37	18	61264460	61264460	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61264460G>A	ENST00000344731.5	+	8	1141	c.1039G>A	c.(1039-1041)Gct>Act	p.A347T	SERPINB13_ENST00000269489.5_Missense_Mutation_p.A295T	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	347					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CGAGGCTGCAGCTGCCACCGG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	55	58			NA	NA	18		NA											NA				61264460		2203	4300	6503	SO:0001583	missense			AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641	5275	5275		Serine (or cysteine) peptidase inhibitors	8944	protein-coding gene	gene with protein product		604445	serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13	PI13	NA	9297979, 10512713, 24172014	Standard	NM_012397	NM_012397	NA	Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.1039G>A	18.37:g.61264460G>A	ENSP00000341584:p.Ala347Thr	NA	Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	37	CCDS11985.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.636651	0.67130	.	.	ENSG00000197641	ENST00000269489;ENST00000539341;ENST00000344731	D;D	0.87809	-2.3;-2.08	5.3	4.44	0.53790	Serpin domain (3);	0.000000	0.52532	D	0.000076	D	0.94118	0.8114	M	0.90759	3.145	0.58432	D	0.999991	D;D;D	0.89917	0.988;0.987;1.0	P;P;D	0.91635	0.893;0.691;0.999	D	0.94669	0.7855	10	0.66056	D	0.02	.	13.0074	0.58712	0.0776:0.0:0.9224:0.0	.	356;265;347	B7ZKV6;F5GZ40;Q9UIV8	.;.;SPB13_HUMAN	T	295;265;347	ENSP00000269489:A295T;ENSP00000341584:A347T	ENSP00000269489:A295T	A	+	1	0	SERPINB13	59415440	1.000000	0.71417	0.009000	0.14445	0.254000	0.26022	6.722000	0.74735	1.254000	0.44035	0.557000	0.71058	GCT	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000133798.1		+	ENST00000344731.5	Missense_Mutation	SNP	18 : 61264460 - 61264460 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	293	64
ANO3	63982	broad.mit.edu	37	11	26574818	26574818	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26574818G>A	ENST00000256737.3	+	13	2164	c.1312G>A	c.(1312-1314)Gaa>Aaa	p.E438K	ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000525139.1_Missense_Mutation_p.E422K|ANO3_ENST00000537978.1_Missense_Mutation_p.E422K|ANO3_ENST00000531568.1_Missense_Mutation_p.E292K	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	438						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TAAAGCCACTGAAGTCTTTAT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	173	171			NA	NA	11		NA											NA				26574818		2203	4300	6503	SO:0001583	missense			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343	63982	63982		Ion channels / Chloride channels : Calcium activated : Anoctamins	14004	protein-coding gene	gene with protein product	transmembrane protein 16C (eight membrane-spanning domains)	610110	chromosome 11 open reading frame 25, transmembrane protein 16C	C11orf25, TMEM16C	NA	12739008, 15067359, 23200863, 24692353	Standard	NM_031418	NM_031418	NA	Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1312G>A	11.37:g.26574818G>A	ENSP00000256737:p.Glu438Lys	NA		37	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.859210	0.51376	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.41	5.59	4.62	0.57501	.	0.112278	0.64402	D	0.000011	T	0.64907	0.2641	N	0.21508	0.67	0.44030	D	0.99675	B;B	0.32467	0.372;0.372	B;B	0.42959	0.209;0.403	T	0.62201	-0.6904	10	0.29301	T	0.29	.	15.9344	0.79691	0.0:0.1352:0.8648:0.0	.	340;438	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	K	422;422;438;340;292	ENSP00000440737:E422K;ENSP00000432576:E422K;ENSP00000256737:E438K;ENSP00000432394:E292K	ENSP00000256737:E438K	E	+	1	0	ANO3	26531394	1.000000	0.71417	0.974000	0.42286	0.980000	0.70556	4.229000	0.58625	2.633000	0.89246	0.637000	0.83480	GAA	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387806.1		+	ENST00000256737.3	Missense_Mutation	SNP	11 : 26574818 - 26574818 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1470	270
PROX1	5629	broad.mit.edu	37	1	214170140	214170140	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214170140C>T	ENST00000366958.4	+	2	870	c.262C>T	c.(262-264)Cca>Tca	p.P88S	PROX1_ENST00000498508.2_Missense_Mutation_p.P88S|PROX1_ENST00000261454.4_Missense_Mutation_p.P88S|PROX1_ENST00000435016.1_Missense_Mutation_p.P88S	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	88					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GATGCCTTTTCCAGGAGCAAC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	83	84			NA	NA	1		NA											NA				214170140		2203	4300	6503	SO:0001583	missense			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707	5629	5629		Homeoboxes / PROS class	9459	protein-coding gene	gene with protein product		601546	prospero-related homeobox 1		NA	8812486	Standard	NM_002763	NM_002763	NA	Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.262C>T	1.37:g.214170140C>T	ENSP00000355925:p.Pro88Ser	NA	A6NK29|A8K2B1|Q5SW76|Q8TB91	37	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671909	0.29693	.	.	ENSG00000117707	ENST00000471129;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.17874	0.0429	N	0.14661	0.345	0.80722	D	1	B	0.27166	0.17	B	0.34536	0.185	T	0.11470	-1.0586	10	0.20046	T	0.44	-2.4481	20.3627	0.98863	0.0:1.0:0.0:0.0	.	88	Q92786	PROX1_HUMAN	S	88	ENSP00000419517:P88S;ENSP00000420283:P88S;ENSP00000355925:P88S;ENSP00000400694:P88S;ENSP00000261454:P88S	ENSP00000261454:P88S	P	+	1	0	PROX1	212236763	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.721000	0.68477	2.885000	0.99019	0.655000	0.94253	CCA	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089727.6		+	ENST00000366958.4	Missense_Mutation	SNP	1 : 214170140 - 214170140 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	493	68
ALX4	60529	broad.mit.edu	37	11	44296954	44296954	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44296954C>T	ENST00000329255.3	-	2	824	c.721G>A	c.(721-723)Gtg>Atg	p.V241M		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	241					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CGCGCATACACGTCTGGGTAG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	107	107			NA	NA	11		NA											NA				44296954		2203	4299	6502	SO:0001583	missense			AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850	60529	60529		Homeoboxes / PRD class	450	protein-coding gene	gene with protein product		605420	parietal foramina 2, aristaless-like homeobox 4	PFM2	NA	11017806, 8644736	Standard		NM_021926	NA	Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.721G>A	11.37:g.44296954C>T	ENSP00000332744:p.Val241Met	NA	Q96JN7|Q9H198|Q9HAY9	37	CCDS31468.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045191	0.75846	.	.	ENSG00000052850	ENST00000329255	D	0.96265	-3.96	3.74	3.74	0.42951	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.136421	0.48767	D	0.000171	D	0.97879	0.9303	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.97755	1.0217	10	0.38643	T	0.18	.	15.7255	0.77756	0.0:1.0:0.0:0.0	.	241	Q9H161	ALX4_HUMAN	M	241	ENSP00000332744:V241M	ENSP00000332744:V241M	V	-	1	0	ALX4	44253530	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	7.623000	0.83113	1.929000	0.55896	0.455000	0.32223	GTG	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390399.1		-	ENST00000329255.3	Missense_Mutation	SNP	11 : 44296954 - 44296954 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	894	169
SYTL2	54843	broad.mit.edu	37	11	85435654	85435654	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85435654G>A	ENST00000525423.1	-	1	3417	c.1846C>T	c.(1846-1848)Ccc>Tcc	p.P616S	SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.P616S|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000359152.5_Missense_Mutation_p.P1140S			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	302	Ser-rich.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GACACCTGGGGCTGATAAGGA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	64	64			NA	NA	11		NA											NA				85435654		2202	4299	6501	SO:0001583	missense			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501	54843	54843			15585	protein-coding gene	gene with protein product	chromosome 11 synaptotagmin, breast cancer-associated antigen SGA-72M, protein phosphatase 1, regulatory subunit 151	612880			NA	10997877	Standard	NM_206927	XM_005274057	NA	Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000525423.1:c.1846C>T	11.37:g.85435654G>A	ENSP00000432694:p.Pro616Ser	NA	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	37	CCDS31650.1	.	.	.	.	.	.	.	.	.	.	G	2.144	-0.396190	0.04899	.	.	ENSG00000137501	ENST00000359152;ENST00000354566;ENST00000525423;ENST00000530351	T;T;T;T	0.35048	1.8;1.8;1.8;1.33	6.06	0.333	0.15943	.	3.264550	0.00520	N	0.000181	T	0.19046	0.0457	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.004;0.004;0.004	T	0.10989	-1.0606	9	.	.	.	3.5706	4.3412	0.11110	0.3039:0.0:0.4587:0.2374	.	616;616;616	Q9HCH5-11;Q9HCH5-7;Q9HCH5-8	.;.;.	S	1140;616;616;35	ENSP00000352065:P1140S;ENSP00000346576:P616S;ENSP00000432694:P616S;ENSP00000435009:P35S	.	P	-	1	0	SYTL2	85113302	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.062000	0.14389	-0.162000	0.10964	-1.106000	0.02097	CCC	SYTL2-008	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392186.1		-	ENST00000525423.1	Missense_Mutation	SNP	11 : 85435654 - 85435654 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	433	77
HEPH	9843	broad.mit.edu	37	X	65486305	65486305	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:65486305G>A	ENST00000419594.1	+	18	2811	c.2701G>A	c.(2701-2703)Gaa>Aaa	p.E901K	HEPH_ENST00000343002.2_Missense_Mutation_p.E1090K|HEPH_ENST00000519389.1_Missense_Mutation_p.E1144K|HEPH_ENST00000441993.2_Missense_Mutation_p.E1092K|HEPH_ENST00000374727.3_Missense_Mutation_p.E1093K|HEPH_ENST00000336279.5_Missense_Mutation_p.E823K	NM_001282141.1	NP_001269070.1	Q9BQS7	HEPH_HUMAN	hephaestin	1090	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AGACATTGAAGAAGGCAATGT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													194	138	157			NA	NA	X		NA											NA				65486305		2203	4300	6503	SO:0001583	missense			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472	9843	9843			4866	protein-coding gene	gene with protein product		300167			NA	9988272, 9734811	Standard	NM_138737	NM_014799	NA	Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000419594.1:c.2701G>A	X.37:g.65486305G>A	ENSP00000413211:p.Glu901Lys	NA	B1AJX8|D3DVT7|O75180|Q6UW45|Q9C058	37		.	.	.	.	.	.	.	.	.	.	G	8.948	0.967504	0.18659	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002	D;D;D;D;D;D	0.99277	-5.67;-5.66;-5.66;-5.64;-5.66;-5.66	5.01	5.01	0.66863	.	0.714431	0.12167	N	0.493373	D	0.96682	0.8917	L	0.27053	0.805	0.09310	N	1	B;P;B	0.48998	0.01;0.918;0.094	B;B;B	0.40009	0.004;0.316;0.016	D	0.91369	0.5118	10	0.06099	T	0.92	.	13.9687	0.64225	0.0:0.0:1.0:0.0	.	1144;901;1090	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	K	1144;1093;823;1092;901;1090	ENSP00000430620:E1144K;ENSP00000363859:E1093K;ENSP00000337418:E823K;ENSP00000411687:E1092K;ENSP00000413211:E901K;ENSP00000343939:E1090K	ENSP00000337418:E823K	E	+	1	0	HEPH	65403030	0.923000	0.31300	0.023000	0.16930	0.011000	0.07611	1.912000	0.39946	2.315000	0.78130	0.600000	0.82982	GAA	HEPH-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000346498.1		+	ENST00000419594.1	Missense_Mutation	SNP	X : 65486305 - 65486305 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	186	50
CWC27	10283	broad.mit.edu	37	5	64084809	64084809	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:64084809G>A	ENST00000508024.1	+	7	832	c.631G>A	c.(631-633)Gct>Act	p.A211T	CWC27_ENST00000381070.3_Missense_Mutation_p.A211T			Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	211					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						TGGAGAGGAAGCTGAGGAAGA	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	105	104			NA	NA	5		NA											NA				64084809		2203	4300	6503	SO:0001583	missense			AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015	10283	10283			10664	protein-coding gene	gene with protein product			serologically defined colon cancer antigen 10	SDCCAG10	NA	9610721, 19941820	Standard	NM_005869	XM_005248399	NA	Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000508024.1:c.631G>A	5.37:g.64084809G>A	ENSP00000426802:p.Ala211Thr	NA	O60529|O60530|Q96EM3	37		.	.	.	.	.	.	.	.	.	.	G	34	5.336438	0.95758	.	.	ENSG00000153015	ENST00000381070;ENST00000508024;ENST00000538793	T;T	0.26660	1.72;1.76	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.52933	0.1765	M	0.76170	2.325	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.994;0.973;0.998;0.996	T	0.52503	-0.8567	10	0.51188	T	0.08	.	18.3774	0.90440	0.0:0.0:1.0:0.0	.	211;211;211;211	Q6UX04-2;Q6UX04;F5H636;D6REK3	.;CWC27_HUMAN;.;.	T	211	ENSP00000370460:A211T;ENSP00000426802:A211T	ENSP00000370460:A211T	A	+	1	0	CWC27	64120565	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.853000	0.86934	2.736000	0.93811	0.591000	0.81541	GCT	CWC27-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000368753.1		+	ENST00000508024.1	Missense_Mutation	SNP	5 : 64084809 - 64084809 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	56
KIAA1244	57221	broad.mit.edu	37	6	138634943	138634943	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138634943A>C	ENST00000251691.4	+	26	4378	c.4212A>C	c.(4210-4212)aaA>aaC	p.K1404N		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1404					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TATTGGCCAAAATCTACAAAA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	50	50			NA	NA	6		NA											NA				138634943		2203	4300	6503	SO:0001583	missense			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379	57221	57221		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	21213	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 33		chromosome 6 open reading frame 92	C6orf92	NA		Standard	NM_020340	NM_020340	NA	Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.4212A>C	6.37:g.138634943A>C	ENSP00000251691:p.Lys1404Asn	NA	Q76MU8|Q8N4Y4|Q96CH9|Q96P46|Q9ULH6	37	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	A	16.10	3.026643	0.54683	.	.	ENSG00000112379	ENST00000251691	T	0.18810	2.19	5.03	1.44	0.22558	.	0.108147	0.64402	D	0.000009	T	0.16642	0.0400	L	0.44542	1.39	0.45439	D	0.998411	D	0.67145	0.996	P	0.62740	0.906	T	0.02320	-1.1177	10	0.33940	T	0.23	-28.0464	8.1894	0.31359	0.7768:0.0:0.2232:0.0	.	1404	Q5TH69	BIG3_HUMAN	N	1404	ENSP00000251691:K1404N	ENSP00000251691:K1404N	K	+	3	2	KIAA1244	138676636	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	1.455000	0.35190	0.022000	0.15160	0.533000	0.62120	AAA	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042425.4		+	ENST00000251691.4	Missense_Mutation	SNP	6 : 138634943 - 138634943 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	203	24
OR2Z1	284383	broad.mit.edu	37	19	8841503	8841503	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8841503G>A	ENST00000324060.2	+	1	188	c.113G>A	c.(112-114)gGc>gAc	p.G38D		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTTGTCATAGGCCTTCTGGGC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	123	130			NA	NA	19		NA											NA				8841503		2203	4300	6503	SO:0001583	missense			AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733	284383	284383		GPCR / Class A : Olfactory receptors	15391	protein-coding gene	gene with protein product			olfactory receptor, family 2, subfamily Z, member 2	OR2Z2	NA		Standard		NM_001004699	NA	Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.113G>A	19.37:g.8841503G>A	ENSP00000316284:p.Gly38Asp	NA	B9EH50|Q6IFK0|Q96R25	37	CCDS32895.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974594	0.53720	.	.	ENSG00000181733	ENST00000324060	T	0.01092	5.35	4.33	3.16	0.36331	.	0.369647	0.22845	N	0.054923	T	0.02380	0.0073	L	0.52905	1.665	0.09310	N	1	P	0.50617	0.937	P	0.49561	0.615	T	0.38308	-0.9667	10	0.87932	D	0	.	10.1776	0.42948	0.0:0.3736:0.6264:0.0	.	38	Q8NG97	OR2Z1_HUMAN	D	38	ENSP00000316284:G38D	ENSP00000316284:G38D	G	+	2	0	OR2Z1	8702503	0.263000	0.24083	0.040000	0.18447	0.014000	0.08584	1.834000	0.39171	2.182000	0.69389	0.543000	0.68304	GGC	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459954.1		+	ENST00000324060.2	Missense_Mutation	SNP	19 : 8841503 - 8841503 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	462	22
NPHP1	4867	broad.mit.edu	37	2	110936030	110936030	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:110936030G>T	ENST00000417665.1	-	4	325	c.299C>A	c.(298-300)gCt>gAt	p.A100D	NPHP1_ENST00000418527.1_Missense_Mutation_p.A100D|NPHP1_ENST00000445609.2_Missense_Mutation_p.A100D|NPHP1_ENST00000355301.4_Intron|NPHP1_ENST00000316534.4_Missense_Mutation_p.A100D|NPHP1_ENST00000393272.3_Missense_Mutation_p.A100D			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	100					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TATTGTCACAGCAAGGCCCTG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	160	165			NA	NA	2		NA											NA				110936030		2203	4300	6503	SO:0001583	missense			AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061	4867	4867			7905	protein-coding gene	gene with protein product	nephrocystin-1	607100		NPH1	NA		Standard	NM_000272	NM_000272	NA	Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000417665.1:c.299C>A	2.37:g.110936030G>T	ENSP00000402176:p.Ala100Asp	NA	O14837	37		.	.	.	.	.	.	.	.	.	.	G	13.51	2.258482	0.39896	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000417665;ENST00000418527	T;T;T;T	0.62364	0.03;0.06;0.03;0.06	5.57	5.57	0.84162	.	0.210292	0.38959	N	0.001519	T	0.76723	0.4027	M	0.61703	1.905	0.42839	D	0.994045	P;P;D;P;P;D	0.71674	0.664;0.947;0.998;0.933;0.773;0.96	B;B;D;B;B;P	0.71656	0.231;0.344;0.974;0.357;0.408;0.56	T	0.76572	-0.2910	10	0.51188	T	0.08	-15.4178	17.4116	0.87487	0.0:0.0:1.0:0.0	.	100;100;100;100;100;100	B4DQY0;C9JNM7;C9J082;O15259;O15259-2;O15259-4	.;.;.;NPHP1_HUMAN;.;.	D	100	ENSP00000313169:A100D;ENSP00000389879:A100D;ENSP00000376953:A100D;ENSP00000402176:A100D	ENSP00000313169:A100D	A	-	2	0	NPHP1	110293319	0.944000	0.32072	0.795000	0.32087	0.182000	0.23217	4.441000	0.59981	2.780000	0.95670	0.655000	0.94253	GCT	NPHP1-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000338101.1		-	ENST00000417665.1	Missense_Mutation	SNP	2 : 110936030 - 110936030 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	543	140
CEACAM6	4680	broad.mit.edu	37	19	42266125	42266125	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42266125G>T	ENST00000199764.6	+	4	1170	c.952G>T	c.(952-954)Gtc>Ttc	p.V318F	AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	318					cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		GATGATCACAGTCTCTGGTAA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	93	96			NA	NA	19		NA											NA				42266125		2203	4300	6503	SO:0001583	missense			M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548	4680	4680		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	1818	protein-coding gene	gene with protein product		163980		NCA	NA		Standard		NM_002483	NA	Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.952G>T	19.37:g.42266125G>T	ENSP00000199764:p.Val318Phe	NA	Q13774|Q14920|Q53XP7	37	CCDS12585.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249697	0.39797	.	.	ENSG00000086548	ENST00000199764	T	0.35789	1.29	2.15	-0.101	0.13618	Immunoglobulin-like fold (1);	.	.	.	.	T	0.66086	0.2754	H	0.97291	3.975	0.09310	N	1	D	0.69078	0.997	D	0.74023	0.982	T	0.53107	-0.8485	9	0.87932	D	0	.	3.8949	0.09135	0.425:0.0:0.575:0.0	.	318	P40199	CEAM6_HUMAN	F	318	ENSP00000199764:V318F	ENSP00000199764:V318F	V	+	1	0	CEACAM6	46957965	0.693000	0.27728	0.076000	0.20297	0.244000	0.25665	1.830000	0.39131	0.229000	0.21039	0.305000	0.20034	GTC	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321147.1		+	ENST00000199764.6	Missense_Mutation	SNP	19 : 42266125 - 42266125 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	316	56
ZC3H18	124245	broad.mit.edu	37	16	88643732	88643732	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88643732C>T	ENST00000301011.5	+	2	401	c.201C>T	c.(199-201)tcC>tcT	p.S67S	ZC3H18_ENST00000452588.2_Silent_p.S67S	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	67						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		ATAATCACTCCGACGAGGAGG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(121;375 2276 20373 38669)							NA				0													33	35	35			NA	NA	16		NA											NA				88643732		2197	4300	6497	SO:0001819	synonymous_variant			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545	124245	124245		Zinc fingers, CCCH-type domain containing	25091	protein-coding gene	gene with protein product					NA	17579712	Standard	NM_144604	NM_144604	NA	Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.201C>T	16.37:g.88643732C>T		NA	Q96DG4|Q96MP7	37	CCDS10967.1																																																																																			ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269168.1		+	ENST00000301011.5	Silent	SNP	16 : 88643732 - 88643732 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	239	58
KIF21B	23046	broad.mit.edu	37	1	200969089	200969089	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200969089G>A	ENST00000332129.2	-	12	2005	c.1689C>T	c.(1687-1689)ccC>ccT	p.P563P	KIF21B_ENST00000360529.5_Silent_p.P563P|KIF21B_ENST00000461742.2_Silent_p.P563P|KIF21B_ENST00000422435.2_Silent_p.P563P	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	563					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CTTCCTTCTCGGGGCTGCTCA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	113	119			NA	NA	1		NA											NA				200969089		2203	4300	6503	SO:0001819	synonymous_variant			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852	23046	23046		Kinesins, WD repeat domain containing	29442	protein-coding gene	gene with protein product		608322			NA	9455484	Standard	XM_371332	NM_001252100	NA	Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000332129.2:c.1689C>T	1.37:g.200969089G>A		NA	Q5T4J3	37	CCDS30965.1																																																																																			KIF21B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087055.2		-	ENST00000332129.2	Silent	SNP	1 : 200969089 - 200969089 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	478	119
SMTN	6525	broad.mit.edu	37	22	31489809	31489809	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31489809G>A	ENST00000358743.1	+	12	1850				SMTN_ENST00000347557.2_Intron|SMTN_ENST00000333137.7_Intron|SMTN_ENST00000404574.1_Missense_Mutation_p.A126T	NM_134270.2	NP_599032.2	P53814	SMTN_HUMAN	smoothelin	NA					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						CCACCCACCTGCCTTCAGCAC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													9	10	9			NA	NA	22		NA											NA				31489809		868	1978	2846	SO:0001627	intron_variant			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.1633-1480G>A	22.37:g.31489809G>A		NA	O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	37	CCDS13887.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.462024	0.63513	.	.	ENSG00000183963	ENST00000404496;ENST00000404574	D	0.93859	-3.3	4.74	3.71	0.42584	.	.	.	.	.	D	0.85358	0.5678	N	0.19112	0.55	0.80722	D	1	B;B;B	0.28324	0.207;0.024;0.207	B;B;B	0.26517	0.07;0.003;0.07	T	0.82731	-0.0312	9	0.56958	D	0.05	.	5.7994	0.18406	0.2264:0.0:0.7736:0.0	.	612;126;550	B4E229;B5MCI0;B5MC56	.;.;.	T	550;126	ENSP00000383919:A126T	ENSP00000385094:A550T	A	+	1	0	SMTN	29819809	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.627000	0.37050	2.372000	0.80975	0.462000	0.41574	GCC	SMTN-003	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321768.1		+	ENST00000358743.1	Intron	SNP	22 : 31489809 - 31489809 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	63	26
IFRD1	3475	broad.mit.edu	37	7	112112901	112112901	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:112112901T>G	ENST00000403825.3	+	11	1512	c.1251T>G	c.(1249-1251)atT>atG	p.I417M	IFRD1_ENST00000005558.4_Missense_Mutation_p.I417M|IFRD1_ENST00000535603.1_Missense_Mutation_p.I367M	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	417					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						CGATGAAGATTTCTCGTTTCG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	123	122			NA	NA	7		NA											NA				112112901		2203	4300	6503	SO:0001583	missense			Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652	3475	3475			5456	protein-coding gene	gene with protein product		603502			NA	9722946	Standard	NM_001550	NM_001550	NA	Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.1251T>G	7.37:g.112112901T>G	ENSP00000384477:p.Ile417Met	NA	O75234|Q5U013|Q9BVE4	37	CCDS34736.1	.	.	.	.	.	.	.	.	.	.	T	17.53	3.411736	0.62399	.	.	ENSG00000006652	ENST00000005558;ENST00000403825;ENST00000536259;ENST00000535603;ENST00000462155	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.81	2.13	0.27403	Interferon-related developmental regulator, C-terminal (1);	0.103669	0.64402	D	0.000003	T	0.56863	0.2014	M	0.66939	2.045	0.38321	D	0.943524	D;D	0.63880	0.993;0.993	D;D	0.72982	0.979;0.979	T	0.58216	-0.7675	10	0.72032	D	0.01	-32.4626	1.1524	0.01789	0.1586:0.223:0.1187:0.4997	.	417;417	A4D0U1;O00458	.;IFRD1_HUMAN	M	417;417;152;367;80	ENSP00000005558:I417M;ENSP00000384477:I417M;ENSP00000439188:I367M;ENSP00000435635:I80M	ENSP00000005558:I417M	I	+	3	3	IFRD1	111900137	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.651000	0.24873	0.129000	0.18514	0.519000	0.50382	ATT	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000338700.1		+	ENST00000403825.3	Missense_Mutation	SNP	7 : 112112901 - 112112901 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	490	48
RPTN	126638	broad.mit.edu	37	1	152127264	152127264	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152127264G>A	ENST00000316073.3	-	3	2375	c.2311C>T	c.(2311-2313)Cga>Tga	p.R771*		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	771	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGCCTGTCTCGTCTCTGACGG	0.473		NA											G	2	9e-04	0.002	NA	2184	0.0017	0.9999	,	,	NA	3e-04	NA	NA	NA	9e-04	0.9525	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				0													848	672	726			NA	NA	1		NA											NA				152127264		1568	3582	5150	SO:0001587	stop_gained			AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853	126638	126638		EF-hand domain containing	26809	protein-coding gene	gene with protein product		613259			NA	15854042	Standard	XM_371312	NM_001122965	NA	Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.2311C>T	1.37:g.152127264G>A	ENSP00000317895:p.Arg771*	NA	B7ZBZ3	37	CCDS41397.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	37	6.007274	0.97195	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	.	.	.	5.09	1.68	0.24146	.	.	.	.	.	.	.	.	.	.	.	0.24012	N	0.996175	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0492	6.6798	0.23113	0.0867:0.0:0.3764:0.5369	.	.	.	.	X	771;426	.	ENSP00000317895:R771X	R	-	1	2	RPTN	150393888	0.001000	0.12720	0.205000	0.23548	0.272000	0.26649	0.228000	0.17814	0.371000	0.24564	0.643000	0.83706	CGA	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333867.1		-	ENST00000316073.3	Nonsense_Mutation	SNP	1 : 152127264 - 152127264 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	3119	509
TMEM131	23505	broad.mit.edu	37	2	98373767	98373767	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98373767G>A	ENST00000186436.5	-	41	5675	c.5447C>T	c.(5446-5448)gCc>gTc	p.A1816V		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1816						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GAAGGGAAGGGCGCTGCTAAG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	144	143			NA	NA	2		NA											NA				98373767		2148	4256	6404	SO:0001583	missense			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568	23505	23505			30366	protein-coding gene	gene with protein product		615659			NA	9039502, 10996388	Standard	XM_371542	NM_015348	NA	Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.5447C>T	2.37:g.98373767G>A	ENSP00000186436:p.Ala1816Val	NA		37	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044813	0.36085	.	.	ENSG00000075568	ENST00000186436	T	0.35973	1.28	5.47	4.56	0.56223	.	0.550760	0.21063	N	0.080790	T	0.23532	0.0569	N	0.14661	0.345	0.41406	D	0.987701	B;B	0.22414	0.005;0.069	B;B	0.24701	0.01;0.055	T	0.07233	-1.0783	10	0.56958	D	0.05	-0.0624	10.5944	0.45329	0.0:0.2379:0.6324:0.1297	.	1816;196	Q92545;Q0P631	TM131_HUMAN;.	V	1816	ENSP00000186436:A1816V	ENSP00000186436:A1816V	A	-	2	0	TMEM131	97740199	0.994000	0.37717	0.253000	0.24343	0.984000	0.73092	2.242000	0.43106	1.487000	0.48415	0.637000	0.83480	GCC	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329285.2		-	ENST00000186436.5	Missense_Mutation	SNP	2 : 98373767 - 98373767 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	373	70
SEMA3A	10371	broad.mit.edu	37	7	83675699	83675699	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:83675699C>T	ENST00000265362.4	-	6	922	c.608G>A	c.(607-609)cGa>cAa	p.R203Q	SEMA3A_ENST00000436949.1_Missense_Mutation_p.R203Q	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	NA	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CCCAAGAGTTCGGAAGATAGC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													217	194	202			NA	NA	7		NA											NA				83675699		2203	4300	6503	SO:0001583	missense			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213	10371	10371		Semaphorins, Immunoglobulin superfamily / Immunoglobulin-like domain containing	10723	protein-coding gene	gene with protein product	sema III	603961		SEMAD	NA	8269517, 7748561	Standard	NM_006080	NM_006080	NA	Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.608G>A	7.37:g.83675699C>T	ENSP00000265362:p.Arg203Gln	NA		37	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	C	36	5.818528	0.96982	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.59224	0.28;0.28	5.88	5.88	0.94601	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.79534	0.4462	M	0.85099	2.735	0.80722	D	1	D	0.65815	0.995	D	0.65573	0.936	T	0.81571	-0.0872	10	0.87932	D	0	.	20.2381	0.98363	0.0:1.0:0.0:0.0	.	203	Q14563	SEM3A_HUMAN	Q	203	ENSP00000265362:R203Q;ENSP00000415260:R203Q	ENSP00000265362:R203Q	R	-	2	0	SEMA3A	83513635	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.433000	0.80362	2.779000	0.95612	0.650000	0.86243	CGA	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253355.2		-	ENST00000265362.4	Missense_Mutation	SNP	7 : 83675699 - 83675699 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	790	147
SHROOM4	57477	broad.mit.edu	37	X	50350432	50350432	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:50350432C>T	ENST00000460112.3	-	5	3816	c.3362G>A	c.(3361-3363)gGc>gAc	p.G1121D	SHROOM4_ENST00000376020.2_Missense_Mutation_p.G1237D|SHROOM4_ENST00000289292.7_Missense_Mutation_p.G1237D			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1237	Gln-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CCCACCAATGCCATAGTAGCA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	59	62			NA	NA	X		NA											NA				50350432		2203	4300	6503	SO:0001583	missense			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352	57477	57477			29215	protein-coding gene	gene with protein product		300579			NA	10574462, 16615870	Standard	NM_020717	NR_027121	NA	Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000460112.3:c.3362G>A	X.37:g.50350432C>T	ENSP00000421450:p.Gly1121Asp	NA	A7E2X9|D6RFW0|Q96LA0	37		.	.	.	.	.	.	.	.	.	.	C	13.96	2.393881	0.42410	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.28666	1.6;1.6;1.6	4.39	4.39	0.52855	Apx/shroom, ASD2 (2);	0.202088	0.33980	N	0.004366	T	0.36193	0.0958	N	0.22421	0.69	0.39622	D	0.970049	D	0.89917	1.0	D	0.97110	1.0	T	0.06197	-1.0840	10	0.18276	T	0.48	.	11.2573	0.49060	0.0:1.0:0.0:0.0	.	1237	Q9ULL8	SHRM4_HUMAN	D	1237;1237;1121	ENSP00000289292:G1237D;ENSP00000365188:G1237D;ENSP00000421450:G1121D	ENSP00000289292:G1237D	G	-	2	0	SHROOM4	50367172	0.967000	0.33354	0.959000	0.39883	0.982000	0.71751	2.926000	0.48892	2.427000	0.82271	0.513000	0.50165	GGC	SHROOM4-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000056565.4		-	ENST00000460112.3	Missense_Mutation	SNP	X : 50350432 - 50350432 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	256	40
SLC6A11	6538	broad.mit.edu	37	3	10953823	10953823	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10953823C>A	ENST00000254488.2	+	7	1006	c.940C>A	c.(940-942)Ctg>Atg	p.L314M		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	314					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		TGCCATTTGCCTGGGCTGTCT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													182	179	180			NA	NA	3		NA											NA				10953823		2203	4300	6503	SO:0001583	missense			S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164	6538	6538		Solute carriers	11044	protein-coding gene	gene with protein product	GABA transporter 3	607952	solute carrier family 6 (neurotransmitter transporter, GABA), member 11		NA	7874447	Standard	NM_014229	NM_014229	NA	Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.940C>A	3.37:g.10953823C>A	ENSP00000254488:p.Leu314Met	NA	B2R6U6	37	CCDS2602.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.718187	0.68844	.	.	ENSG00000132164	ENST00000254488	T	0.76839	-1.05	4.78	3.89	0.44902	.	0.000000	0.64402	D	0.000002	T	0.81721	0.4882	M	0.73372	2.23	0.80722	D	1	P	0.43701	0.815	P	0.50537	0.643	D	0.84237	0.0470	10	0.72032	D	0.01	.	12.3503	0.55144	0.0:0.9177:0.0:0.0822	.	314	P48066	S6A11_HUMAN	M	314	ENSP00000254488:L314M	ENSP00000254488:L314M	L	+	1	2	SLC6A11	10928823	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.717000	0.47227	2.189000	0.69895	0.462000	0.41574	CTG	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251927.1		+	ENST00000254488.2	Missense_Mutation	SNP	3 : 10953823 - 10953823 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	919	166
PLSCR4	57088	broad.mit.edu	37	3	145912991	145912991	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:145912991C>T	ENST00000354952.2	-	8	1105	c.865G>A	c.(865-867)Gct>Act	p.A289T	PLSCR4_ENST00000383083.2_Missense_Mutation_p.A199T|PLSCR4_ENST00000446574.2_Missense_Mutation_p.A289T|PLSCR4_ENST00000493382.1_Missense_Mutation_p.A289T|PLSCR4_ENST00000433593.2_Missense_Mutation_p.A184T	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	289					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						AAATGGTCAGCATCTGCCATT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	143	154			NA	NA	3		NA											NA				145912991		2203	4300	6503	SO:0001583	missense			AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698	57088	57088			16497	protein-coding gene	gene with protein product		607612			NA	10930526	Standard	NM_020353	NM_020353	NA	Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.865G>A	3.37:g.145912991C>T	ENSP00000347038:p.Ala289Thr	NA	A8K2E9|Q2TTR3|Q658L3|Q7Z505	37	CCDS3133.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.960136	0.34565	.	.	ENSG00000114698	ENST00000354952;ENST00000383083;ENST00000433593;ENST00000446574;ENST00000493382	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	4.75	3.87	0.44632	.	0.106971	0.41823	D	0.000804	T	0.34221	0.0890	L	0.49640	1.575	0.31693	N	0.641593	P;P	0.49185	0.58;0.92	B;P	0.50860	0.365;0.652	T	0.41466	-0.9507	10	0.46703	T	0.11	.	7.3351	0.26605	0.1703:0.7433:0.0:0.0864	.	199;289	E9PHR9;Q9NRQ2	.;PLS4_HUMAN	T	289;199;184;289;289	ENSP00000347038:A289T;ENSP00000372561:A199T;ENSP00000415605:A184T;ENSP00000399315:A289T;ENSP00000419040:A289T	ENSP00000347038:A289T	A	-	1	0	PLSCR4	147395681	0.591000	0.26824	0.981000	0.43875	0.012000	0.07955	0.804000	0.27098	1.334000	0.45468	-0.282000	0.10007	GCT	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355172.1		-	ENST00000354952.2	Missense_Mutation	SNP	3 : 145912991 - 145912991 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	445	78
IMPG2	50939	broad.mit.edu	37	3	100976376	100976376	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100976376T>C	ENST00000193391.7	-	10	1337	c.1150A>G	c.(1150-1152)Aat>Gat	p.N384D		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	384					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AACTCACCATTGATAAGCTGC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	125	123			NA	NA	3		NA											NA				100976376		2203	4299	6502	SO:0001583	missense			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148	50939	50939			18362	protein-coding gene	gene with protein product		607056			NA	10542133	Standard		NM_016247	NA	Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.1150A>G	3.37:g.100976376T>C	ENSP00000193391:p.Asn384Asp	NA	A8MWT5|Q9UKD4|Q9UKK5	37	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	T	17.93	3.509095	0.64410	.	.	ENSG00000081148	ENST00000193391	T	0.27256	1.68	5.51	3.14	0.36123	.	0.396828	0.25984	N	0.027048	T	0.19167	0.0460	L	0.32530	0.975	0.28038	N	0.933874	B;B	0.18461	0.028;0.028	B;B	0.13407	0.009;0.009	T	0.12218	-1.0556	10	0.48119	T	0.1	.	10.4698	0.44629	0.0:0.089:0.0:0.911	.	384;384	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	D	384	ENSP00000193391:N384D	ENSP00000193391:N384D	N	-	1	0	IMPG2	102459066	1.000000	0.71417	0.931000	0.37212	0.975000	0.68041	2.900000	0.48687	0.397000	0.25310	0.379000	0.24179	AAT	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353256.3		-	ENST00000193391.7	Missense_Mutation	SNP	3 : 100976376 - 100976376 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	830	145
KRT16	3868	broad.mit.edu	37	17	39767452	39767452	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39767452C>T	ENST00000301653.4	-	4	866	c.802G>A	c.(802-804)Gga>Aga	p.G268R		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	268	Linker 12.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				TTCACATCTCCGCCGGTCTGA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	71	75			NA	NA	17		NA											NA				39767452		2203	4300	6503	SO:0001583	missense			S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832	3868	3868		-, Intermediate filaments type I, keratins (acidic)	6423	protein-coding gene	gene with protein product	focal non-epidermolytic palmoplantar keratoderma	148067			NA	2451124, 16831889	Standard	NM_005557	NM_005557	NA	Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.802G>A	17.37:g.39767452C>T	ENSP00000301653:p.Gly268Arg	NA	A8K488|P30654|Q16402|Q9UBG8	37	CCDS11401.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.859297	0.51376	.	.	ENSG00000186832	ENST00000301653	D	0.89196	-2.48	4.79	4.79	0.61399	Filament (1);	0.000000	0.52532	D	0.000080	D	0.94414	0.8203	M	0.79258	2.445	0.58432	D	0.999998	D	0.76494	0.999	D	0.83275	0.996	D	0.95138	0.8261	10	0.87932	D	0	.	17.809	0.88610	0.0:1.0:0.0:0.0	.	268	P08779	K1C16_HUMAN	R	268	ENSP00000301653:G268R	ENSP00000301653:G268R	G	-	1	0	KRT16	37020978	1.000000	0.71417	0.913000	0.36048	0.014000	0.08584	7.818000	0.86416	2.371000	0.80710	0.462000	0.41574	GGA	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257408.1		-	ENST00000301653.4	Missense_Mutation	SNP	17 : 39767452 - 39767452 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	464	78
LMO7	4008	broad.mit.edu	37	13	76369557	76369557	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:76369557G>A	ENST00000321797.8	+	0	360				LMO7_ENST00000377534.3_Missense_Mutation_p.R165K|LMO7_ENST00000357063.3_Missense_Mutation_p.R165K|LMO7_ENST00000526202.1_Missense_Mutation_p.R74K|LMO7_ENST00000341547.4_Missense_Mutation_p.R165K|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000465261.2_5'UTR			Q8WWI1	LMO7_HUMAN	LIM domain 7	NA						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ACTGACAGGAGAGTGAAAAAT	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	91	90			NA	NA	13		NA											NA				76369557		2203	4295	6498	SO:0001623	5_prime_UTR_variant			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153	4008	4008			6646	protein-coding gene	gene with protein product	F-box only protein 20	604362	LIM domain only 7	FBXO20	NA	9826547, 10531035	Standard	NM_005358	NM_005358	NA	Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.-362G>A	13.37:g.76369557G>A		NA	O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	37		.	.	.	.	.	.	.	.	.	.	G	27.5	4.835958	0.91117	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000526202	T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.56	5.87	5.87	0.94306	.	0.050469	0.85682	D	0.000000	T	0.67711	0.2922	L	0.42245	1.32	0.54753	D	0.999989	P;D;D	0.71674	0.682;0.998;0.996	P;D;D	0.80764	0.692;0.994;0.987	T	0.57768	-0.7754	10	0.06757	T	0.87	-21.8128	20.1991	0.98252	0.0:0.0:1.0:0.0	.	74;165;113	E9PMS6;Q8WWI1-3;F8J2B5	.;.;.	K	165;165;165;113;74	ENSP00000342112:R165K;ENSP00000349571:R165K;ENSP00000366757:R165K;ENSP00000366719:R113K;ENSP00000431129:R74K	ENSP00000342112:R165K	R	+	2	0	LMO7	75267558	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.690000	0.84178	2.775000	0.95449	0.650000	0.86243	AGA	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000045301.3		+	ENST00000321797.8	5'UTR	SNP	13 : 76369557 - 76369557 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	422	70
EPHA10	284656	broad.mit.edu	37	1	38192845	38192845	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38192845G>A	ENST00000373048.4	-	8	1700	c.1701C>T	c.(1699-1701)gtC>gtT	p.V567V	EPHA10_ENST00000540011.1_Silent_p.V62V|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000330210.7_Silent_p.V62V|EPHA10_ENST00000427468.2_Silent_p.V567V	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	567						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTACGGTGACGACAATGGCGG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	67	62			NA	NA	1		NA											NA				38192845		2062	4193	6255	SO:0001819	synonymous_variant			AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317	284656	284656		EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	19987	protein-coding gene	gene with protein product		611123			NA	12477932	Standard	NM_173641	NM_001099439	NA	Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.1701C>T	1.37:g.38192845G>A		NA	A4FU89|Q6NW42	37	CCDS41305.1																																																																																			EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000012497.2		-	ENST00000373048.4	Silent	SNP	1 : 38192845 - 38192845 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	196	14
CD1B	910	broad.mit.edu	37	1	158299849	158299849	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158299849C>A	ENST00000368168.3	-	3	507	c.400G>T	c.(400-402)Gga>Tga	p.G134*		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	134					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					CCTAGAGCTCCCCTCAGGAAG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	175	174			NA	NA	1		NA											NA				158299849		2203	4300	6503	SO:0001587	stop_gained			M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485	910	910		CD molecules, Immunoglobulin superfamily / C1-set domain containing	1635	protein-coding gene	gene with protein product		188360	CD1B antigen, b polypeptide, CD1b antigen	CD1	NA	2447586	Standard	NM_001764	NM_001764	NA	Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.400G>T	1.37:g.158299849C>A	ENSP00000357150:p.Gly134*	NA	Q5TDK9|Q5TDL0|Q9UMM2	37	CCDS1176.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.78|18.78	3.696383|3.696383	0.68386|0.68386	.|.	.|.	ENSG00000158485|ENSG00000158485	ENST00000451207|ENST00000368168	.|.	.|.	.|.	4.16|4.16	3.25|3.25	0.37280|0.37280	.|.	0.499782|0.499782	0.17023|0.17023	N|N	0.190023|0.190023	T|.	0.24812|.	0.0602|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.07986|.	-1.0744|.	4|.	.|0.26408	.|T	.|0.33	0.004|0.004	7.9556|7.9556	0.30040|0.30040	0.0:0.8856:0.0:0.1144|0.0:0.8856:0.0:0.1144	.|.	.|.	.|.	.|.	V|X	101|134	.|.	.|ENSP00000357150:G134X	G|G	-|-	2|1	0|0	CD1B|CD1B	156566473|156566473	0.001000|0.001000	0.12720|0.12720	0.007000|0.007000	0.13788|0.13788	0.064000|0.064000	0.16182|0.16182	0.981000|0.981000	0.29526|0.29526	1.095000|1.095000	0.41419|0.41419	-0.136000|-0.136000	0.14681|0.14681	GGG|GGA	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046350.2		-	ENST00000368168.3	Nonsense_Mutation	SNP	1 : 158299849 - 158299849 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1347	354
FRMPD4	9758	broad.mit.edu	37	X	12735057	12735057	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:12735057G>A	ENST00000380682.1	+	15	2985	c.2479G>A	c.(2479-2481)Gca>Aca	p.A827T		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	827					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCAGAGCCAGGCAGCTTCCTT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	86	92			NA	NA	X		NA											NA				12735057		2203	4300	6503	SO:0001583	missense			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933	9758	9758			29007	protein-coding gene	gene with protein product		300838	PDZ domain containing 10	PDZK10, PDZD10	NA	9205841	Standard	XM_045712	NM_014728	NA	Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2479G>A	X.37:g.12735057G>A	ENSP00000370057:p.Ala827Thr	NA	A8K0X9|O15032	37	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.751744	0.31046	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.32515	1.45	5.26	4.38	0.52667	.	0.390669	0.26769	N	0.022586	T	0.22437	0.0541	L	0.40543	1.245	0.29218	N	0.874119	B;B	0.18863	0.031;0.031	B;B	0.15870	0.014;0.01	T	0.06734	-1.0810	10	0.44086	T	0.13	.	6.6097	0.22745	0.1509:0.0:0.6928:0.1562	.	819;827	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	T	827;818;816	ENSP00000370057:A827T	ENSP00000304583:A816T	A	+	1	0	FRMPD4	12644978	1.000000	0.71417	0.978000	0.43139	0.980000	0.70556	2.658000	0.46733	2.334000	0.79466	0.600000	0.82982	GCA	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055771.1		+	ENST00000380682.1	Missense_Mutation	SNP	X : 12735057 - 12735057 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	344	105
OR2C1	4993	broad.mit.edu	37	16	3406685	3406685	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3406685T>C	ENST00000304936.2	+	1	797	c.745T>C	c.(745-747)Ttc>Ctc	p.F249L		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GCTGGTGGTGTTCCTCTTCTA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	124	134			NA	NA	16		NA											NA				3406685		2197	4300	6497	SO:0001583	missense			AF098664	CCDS10502.1	16p13.3	2012-08-09			ENSG00000168158	ENSG00000168158	4993	4993		GPCR / Class A : Olfactory receptors	8242	protein-coding gene	gene with protein product				OR2C2P	NA	9847080	Standard		NM_012368	NA	Approved	OLFmf3	uc002cuw.1	O95371	OTTHUMG00000090505	ENST00000304936.2:c.745T>C	16.37:g.3406685T>C	ENSP00000307726:p.Phe249Leu	NA	A0AVA4|Q6IF34|Q6IF55	37	CCDS10502.1	.	.	.	.	.	.	.	.	.	.	t	2.689	-0.273511	0.05679	.	.	ENSG00000168158	ENST00000304936	T	0.34072	1.38	5.0	-1.61	0.08399	GPCR, rhodopsin-like superfamily (1);	1.444030	0.05098	N	0.486474	T	0.18087	0.0434	N	0.05031	-0.125	0.09310	N	1	B	0.02656	0.0	B	0.12156	0.007	T	0.23691	-1.0181	10	0.49607	T	0.09	.	5.3433	0.15996	0.0:0.2708:0.2594:0.4699	.	249	O95371	OR2C1_HUMAN	L	249	ENSP00000307726:F249L	ENSP00000307726:F249L	F	+	1	0	OR2C1	3346686	0.000000	0.05858	0.244000	0.24202	0.114000	0.19823	-0.662000	0.05305	-0.504000	0.06577	-1.288000	0.01363	TTC	OR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206993.3		+	ENST00000304936.2	Missense_Mutation	SNP	16 : 3406685 - 3406685 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	522	113
GPATCH1	55094	broad.mit.edu	37	19	33588747	33588747	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33588747C>T	ENST00000170564.2	+	8	1253	c.939C>T	c.(937-939)gaC>gaT	p.D313D		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	313						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TTCTGAAGGACGAGGAGCCTG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(67;88 1713 4567 18227)							NA				0													191	191	191			NA	NA	19		NA											NA				33588747		2203	4300	6503	SO:0001819	synonymous_variant			AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650	55094	55094		G patch domain containing	24658	protein-coding gene	gene with protein product	evolutionarily conserved G patch domain containing			GPATC1	NA	12477932	Standard	NM_018025	NM_018025	NA	Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.939C>T	19.37:g.33588747C>T		NA	Q8IZV6|Q8N3B7|Q9NW94	37	CCDS12428.1																																																																																			GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450834.1		+	ENST00000170564.2	Silent	SNP	19 : 33588747 - 33588747 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1301	203
PDE9A	5152	broad.mit.edu	37	21	44119111	44119111	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44119111G>T	ENST00000291539.6	+	4	312	c.252G>T	c.(250-252)aaG>aaT	p.K84N	PDE9A_ENST00000349112.3_Missense_Mutation_p.A35S|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000398224.3_Missense_Mutation_p.K17N|PDE9A_ENST00000398225.3_Missense_Mutation_p.K43N|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000398234.3_Missense_Mutation_p.K43N|PDE9A_ENST00000398236.3_Missense_Mutation_p.K58N|PDE9A_ENST00000380328.2_Missense_Mutation_p.A110S|PDE9A_ENST00000398229.3_Intron|PDE9A_ENST00000335440.6_Missense_Mutation_p.A61S|PDE9A_ENST00000398232.3_Missense_Mutation_p.K17N|PDE9A_ENST00000335512.4_Missense_Mutation_p.K84N|PDE9A_ENST00000328862.6_Missense_Mutation_p.K58N|PDE9A_ENST00000470987.1_3'UTR	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	84					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						TGGCCATCAAGCAACTCTCCG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	84	87			NA	NA	21		NA											NA				44119111		2203	4300	6503	SO:0001583	missense			AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	5152	5152	3.1.4.17	Phosphodiesterases	8795	protein-coding gene	gene with protein product		602973			NA	9624146	Standard		NM_001001584	NA	Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.252G>T	21.37:g.44119111G>T	ENSP00000291539:p.Lys84Asn	NA	B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	37	CCDS13690.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	9.981|9.981	1.228164|1.228164	0.22542|0.22542	.|.	.|.	ENSG00000160191|ENSG00000160191	ENST00000380328;ENST00000335440;ENST00000349112|ENST00000335512;ENST00000291539;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000398225;ENST00000398224	T;T;T|T;T;T;T;T;T;T;T	0.68765|0.69435	-0.28;-0.35;-0.26|-0.37;-0.38;-0.39;-0.38;-0.33;-0.37;-0.4;-0.33	4.19|4.19	2.18|2.18	0.27775|0.27775	.|.	.|4.256290	.|0.01036	.|U	.|0.004236	T|T	0.75042|0.75042	0.3796|0.3796	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B;B;B|D;B;B;B;D;B;B;B;B	0.32101|0.76494	0.229;0.356;0.356|0.999;0.001;0.001;0.001;0.999;0.001;0.002;0.0;0.002	B;B;B|D;B;B;B;D;B;B;B;B	0.32090|0.78314	0.099;0.14;0.14|0.991;0.002;0.002;0.004;0.991;0.002;0.004;0.001;0.004	T|T	0.69101|0.69101	-0.5234|-0.5234	8|9	0.27082|0.17369	T|T	0.32|0.5	.|.	5.1173|5.1173	0.14840|0.14840	0.2781:0.0:0.7219:0.0|0.2781:0.0:0.7219:0.0	.|.	35;61;110|17;58;43;58;43;36;84;17;84	O76083-4;O76083-12;O76083-5|O76083-13;O76083-8;O76083-6;O76083-15;O76083-14;O76083-16;O76083-2;O76083-3;O76083	.;.;.|.;.;.;.;.;.;.;.;PDE9A_HUMAN	S|N	110;61;35|84;84;17;43;58;58;43;17	ENSP00000369685:A110S;ENSP00000335365:A61S;ENSP00000344730:A35S|ENSP00000335242:K84N;ENSP00000291539:K84N;ENSP00000381287:K17N;ENSP00000381289:K43N;ENSP00000381291:K58N;ENSP00000328699:K58N;ENSP00000381281:K43N;ENSP00000381280:K17N	ENSP00000335365:A61S|ENSP00000291539:K84N	A|K	+|+	1|3	0|2	PDE9A|PDE9A	42992180|42992180	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	1.671000|1.671000	0.37513|0.37513	0.984000|0.984000	0.38629|0.38629	0.514000|0.514000	0.50259|0.50259	GCA|AAG	PDE9A-016	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195466.1		+	ENST00000291539.6	Missense_Mutation	SNP	21 : 44119111 - 44119111 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	390	19
ZNF521	25925	broad.mit.edu	37	18	22804628	22804628	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22804628A>C	ENST00000361524.3	-	4	3402	c.3254T>G	c.(3253-3255)aTc>aGc	p.I1085S	ZNF521_ENST00000584787.1_Missense_Mutation_p.I865S|ZNF521_ENST00000538137.2_Missense_Mutation_p.I1085S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1085					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CAGGCCATTGATATCAAGTTT	0.537		NA	T	PAX5	ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													75	69	71			NA	NA	18		NA											NA				22804628		2203	4300	6503	SO:0001583	missense			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795	25925	25925		Zinc fingers, C2H2-type	24605	protein-coding gene	gene with protein product	early hematopoietic zinc finger	610974			NA	11984006, 14630787	Standard	NM_015461	NM_015461	NA	Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3254T>G	18.37:g.22804628A>C	ENSP00000354794:p.Ile1085Ser	NA	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	37	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	A	11.40	1.626459	0.28978	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.09255	3.0;3.02	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.10937	0.0267	N	0.19112	0.55	0.45806	D	0.998686	P	0.51449	0.945	P	0.45071	0.468	T	0.06734	-1.0810	10	0.48119	T	0.1	-35.3969	16.2652	0.82574	1.0:0.0:0.0:0.0	.	1085	Q96K83	ZN521_HUMAN	S	1085;1119;1085	ENSP00000354794:I1085S;ENSP00000382352:I1085S	ENSP00000354794:I1085S	I	-	2	0	ZNF521	21058626	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.956000	0.93066	2.241000	0.73720	0.528000	0.53228	ATC	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000446781.2		-	ENST00000361524.3	Missense_Mutation	SNP	18 : 22804628 - 22804628 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	406	12
ENPP7	339221	broad.mit.edu	37	17	77711769	77711769	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77711769C>A	ENST00000328313.5	+	5	1522	c.1301C>A	c.(1300-1302)gCt>gAt	p.A434D		NM_178543.3	NP_848638.3	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	434					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGAAGATCTGCTCTCCCGCCC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	98	102			NA	NA	17		NA											NA				77711769		2203	4300	6503	SO:0001583	missense			AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156	339221	339221			23764	protein-coding gene	gene with protein product	alkaline sphingomyelinase				NA	12885774	Standard	NM_178543	NM_178543	NA	Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.1301C>A	17.37:g.77711769C>A	ENSP00000332656:p.Ala434Asp	NA	Q6ZTS5|Q8IUS8	37	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	C	4.545	0.101210	0.08731	.	.	ENSG00000182156	ENST00000328313	T	0.74106	-0.81	2.32	2.32	0.28847	.	1.464090	0.05503	U	0.558779	T	0.53077	0.1774	N	0.08118	0	0.09310	N	1	D	0.53885	0.963	B	0.38954	0.286	T	0.50499	-0.8821	10	0.33141	T	0.24	.	8.2235	0.31556	0.0:1.0:0.0:0.0	.	434	Q6UWV6	ENPP7_HUMAN	D	434	ENSP00000332656:A434D	ENSP00000332656:A434D	A	+	2	0	ENPP7	75326364	0.001000	0.12720	0.002000	0.10522	0.001000	0.01503	1.075000	0.30716	1.609000	0.50190	0.462000	0.41574	GCT	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437038.1		+	ENST00000328313.5	Missense_Mutation	SNP	17 : 77711769 - 77711769 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	542	18
OR1S1	219959	broad.mit.edu	37	11	57982253	57982253	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57982253A>G	ENST00000309433.6	+	1	37	c.37A>G	c.(37-39)Aat>Gat	p.N13D		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				GATCGGCAGAAATATGCATCA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	143	148			NA	NA	11		NA											NA				57982253		2201	4296	6497	SO:0001583	missense			BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774	219959	219959		GPCR / Class A : Olfactory receptors	8227	protein-coding gene	gene with protein product					NA		Standard	NM_001004458	NM_001004458	NA	Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.37A>G	11.37:g.57982253A>G	ENSP00000311688:p.Asn13Asp	NA	Q6IFG3	37	CCDS31546.1	.	.	.	.	.	.	.	.	.	.	A	0.164	-1.078147	0.01903	.	.	ENSG00000172774	ENST00000309433	T	0.57752	0.38	3.4	0.804	0.18697	.	0.345842	0.20757	N	0.086256	T	0.27349	0.0671	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.08046	-1.0741	10	0.30854	T	0.27	.	3.6178	0.08083	0.691:0.0:0.1169:0.1921	.	13	Q8NH92	OR1S1_HUMAN	D	13	ENSP00000311688:N13D	ENSP00000311688:N13D	N	+	1	0	OR1S1	57738829	0.015000	0.18098	0.978000	0.43139	0.170000	0.22686	1.714000	0.37961	0.361000	0.24292	0.392000	0.25879	AAT	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394705.1		+	ENST00000309433.6	Missense_Mutation	SNP	11 : 57982253 - 57982253 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	542	98
PKHD1L1	93035	broad.mit.edu	37	8	110471888	110471888	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110471888A>G	ENST00000378402.5	+	47	7173	c.7069A>G	c.(7069-7071)Aca>Gca	p.T2357A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2357					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CATAAACATAACACTAAGTAA	0.348		NA								HNSCC(38;0.096)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	62	62			NA	NA	8		NA											NA				110471888		1867	4114	5981	SO:0001583	missense			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038	93035	93035			20313	protein-coding gene	gene with protein product		607843			NA	12620974	Standard	NM_177531	NM_177531	NA	Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.7069A>G	8.37:g.110471888A>G	ENSP00000367655:p.Thr2357Ala	NA	Q567P2|Q9UF27	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.382117	0.42207	.	.	ENSG00000205038	ENST00000378402	D	0.93133	-3.17	5.44	4.26	0.50523	.	0.060492	0.64402	D	0.000005	D	0.91036	0.7180	M	0.68952	2.095	0.09310	N	1	B	0.22604	0.072	B	0.25506	0.061	T	0.80991	-0.1135	10	0.30854	T	0.27	.	9.9275	0.41501	0.8475:0.0:0.0:0.1525	.	2357	Q86WI1	PKHL1_HUMAN	A	2357	ENSP00000367655:T2357A	ENSP00000367655:T2357A	T	+	1	0	PKHD1L1	110541064	0.927000	0.31430	0.014000	0.15608	0.929000	0.56500	4.668000	0.61568	0.881000	0.35993	0.374000	0.22700	ACA	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381017.1		+	ENST00000378402.5	Missense_Mutation	SNP	8 : 110471888 - 110471888 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	81	21
FREM2	341640	broad.mit.edu	37	13	39262336	39262336	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39262336G>T	ENST00000280481.7	+	1	1071	c.855G>T	c.(853-855)gaG>gaT	p.E285D		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	285					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGGTGGTGGAGCTGCGTTCAC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	58	58			NA	NA	13		NA											NA				39262336		2203	4300	6503	SO:0001583	missense			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893	341640	341640			25396	protein-coding gene	gene with protein product		608945			NA	15345741	Standard	NM_207361	NM_207361	NA	Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.855G>T	13.37:g.39262336G>T	ENSP00000280481:p.Glu285Asp	NA	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.526850	0.64860	.	.	ENSG00000150893	ENST00000280481	T	0.20881	2.04	5.94	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	L	0.41710	1.295	0.58432	D	0.999999	D	0.67145	0.996	D	0.66979	0.948	T	0.02009	-1.1230	10	0.44086	T	0.13	.	12.566	0.56310	0.1343:0.0:0.8657:0.0	.	285	Q5SZK8	FREM2_HUMAN	D	285	ENSP00000280481:E285D	ENSP00000280481:E285D	E	+	3	2	FREM2	38160336	1.000000	0.71417	0.996000	0.52242	0.927000	0.56198	2.943000	0.49026	0.856000	0.35383	0.561000	0.74099	GAG	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044599.2		+	ENST00000280481.7	Missense_Mutation	SNP	13 : 39262336 - 39262336 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	488	83
XIRP2	129446	broad.mit.edu	37	2	168108246	168108246	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168108246C>T	ENST00000409195.1	+	9	10433	c.10344C>T	c.(10342-10344)ggC>ggT	p.G3448G	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.G3448G|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Silent_p.G3226G	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3273					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCAAATCTGGCTGTGACTTCA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	61	61			NA	NA	2		NA											NA				168108246		1917	4138	6055	SO:0001819	synonymous_variant			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092	129446	129446			14303	protein-coding gene	gene with protein product	myomaxin	609778	cardiomyopathy associated 3	CMYA3	NA	17046827, 12203715, 15454575	Standard	NM_152381	NM_001079810	NA	Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.10344C>T	2.37:g.168108246C>T		NA	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	37	CCDS42769.1																																																																																			XIRP2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333547.1		+	ENST00000409195.1	Silent	SNP	2 : 168108246 - 168108246 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	75
LMBRD2	92255	broad.mit.edu	37	5	36108727	36108727	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36108727A>C	ENST00000296603.4	-	16	2268	c.1806T>G	c.(1804-1806)cgT>cgG	p.R602R		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	602						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGTGTCCATAACGTTCTTTCC	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	110	113			NA	NA	5		NA											NA				36108727		2202	4300	6502	SO:0001819	synonymous_variant				CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187	92255	92255			25287	protein-coding gene	gene with protein product					NA		Standard	NM_001007527	NM_001007527	NA	Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.1806T>G	5.37:g.36108727A>C		NA	B3KRB6|Q9NTC7	37	CCDS34145.1																																																																																			LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367552.1		-	ENST00000296603.4	Silent	SNP	5 : 36108727 - 36108727 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	135	29
CCDC88C	440193	broad.mit.edu	37	14	91780320	91780320	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91780320G>A	ENST00000389857.6	-	15	1926	c.1840C>T	c.(1840-1842)Cgg>Tgg	p.R614W		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	614					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGCAGCTGCCGCTTCTCAAAC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	75	75			NA	NA	14		NA											NA				91780320		2109	4226	6335	SO:0001583	missense				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133	440193	440193			19967	protein-coding gene	gene with protein product	Dvl-associating protein with a high frequency of leucine residues, spinocerebellar ataxia 40	611204	KIAA1509	KIAA1509	NA	17185515, 25062847	Standard	XM_029353	NM_001080414	NA	Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.1840C>T	14.37:g.91780320G>A	ENSP00000374507:p.Arg614Trp	NA	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	37	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659039	0.67586	.	.	ENSG00000015133	ENST00000389857	T	0.31510	1.49	5.46	0.828	0.18841	.	0.630024	0.13382	U	0.392022	T	0.34337	0.0894	L	0.42245	1.32	0.80722	D	1	D	0.65815	0.995	P	0.48571	0.582	T	0.39901	-0.9591	10	0.87932	D	0	-10.4006	14.9305	0.70911	0.0:0.0:0.2364:0.7636	.	614	Q9P219	DAPLE_HUMAN	W	614	ENSP00000374507:R614W	ENSP00000374507:R614W	R	-	1	2	CCDC88C	90850073	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	1.998000	0.40796	0.224000	0.20940	0.491000	0.48974	CGG	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411650.1		-	ENST00000389857.6	Missense_Mutation	SNP	14 : 91780320 - 91780320 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	268	57
KLK3	354	broad.mit.edu	37	19	51361378	51361378	+	Silent	SNP	C	C	A	rs2739452		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51361378C>A	ENST00000360617.3	+	3	300	c.300C>A	c.(298-300)ctC>ctA	p.L100L	KLK3_ENST00000593997.1_Silent_p.L100L|KLK3_ENST00000326003.2_Silent_p.L100L|KLK3_ENST00000595952.1_Intron|KLK3_ENST00000597483.1_Intron			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	100	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	p.L100L(2)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CACACCCGCTCTACGATATGA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(185;1767 2023 13025 30120 37630)							NA				2	Substitution - coding silent(2)	urinary_tract(2)											93	76	81			NA	NA	19		NA											NA				51361378		2203	4300	6503	SO:0001819	synonymous_variant			X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515	354	354		Kallikreins	6364	protein-coding gene	gene with protein product		176820	kallikrein 3, (prostate specific antigen)	APS	NA	2456523, 2436946, 16800724, 16800723	Standard	NM_145864	NM_001648	NA	Approved	PSA	uc021uyi.1	P07288		ENST00000360617.3:c.300C>A	19.37:g.51361378C>A		NA	Q16272|Q86TG8	37	CCDS33083.1																																																																																			KLK3-007	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464073.1		+	ENST00000360617.3	Silent	SNP	19 : 51361378 - 51361378 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	267	48
HMGCR	3156	broad.mit.edu	37	5	74655331	74655331	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74655331G>T	ENST00000287936.4	+	18	2563	c.2407G>T	c.(2407-2409)Gga>Tga	p.G803*	HMGCR_ENST00000343975.5_Nonsense_Mutation_p.G750*|HMGCR_ENST00000511206.1_Nonsense_Mutation_p.G803*	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	803	Catalytic.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	TATAGAGATAGGAACGGTGGG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	82	81			NA	NA	5		NA											NA				74655331		2203	4300	6503	SO:0001587	stop_gained				CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	3156	3156	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	hydroxymethylglutaryl-CoA reductase, 3-hydroxy-3-methylglutaryl CoA reductase (NADPH)	142910	3-hydroxy-3-methylglutaryl-Coenzyme A reductase		NA		Standard		NM_000859	NA	Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.2407G>T	5.37:g.74655331G>T	ENSP00000287936:p.Gly803*	NA	Q8N190	37	CCDS4027.1	.	.	.	.	.	.	.	.	.	.	G	40	7.964543	0.98585	.	.	ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975;ENST00000429286	.	.	.	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.2011	17.8148	0.88628	0.0:0.0:1.0:0.0	.	.	.	.	X	803;734;803;750;180	.	ENSP00000287936:G803X	G	+	1	0	HMGCR	74691087	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.592000	0.98245	2.416000	0.81992	0.655000	0.94253	GGA	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219877.2		+	ENST00000287936.4	Nonsense_Mutation	SNP	5 : 74655331 - 74655331 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	281	13
SLC35C1	55343	broad.mit.edu	37	11	45832503	45832503	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45832503G>A	ENST00000314134.3	+	2	2108	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	SLC35C1_ENST00000442528.2_Missense_Mutation_p.A225T|SLC35C1_ENST00000456334.1_Missense_Mutation_p.A225T	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	238						Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity			endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		CAACGTCAACGCCTGCATCCT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	55	56			NA	NA	11		NA											NA				45832503		2203	4299	6502	SO:0001583	missense				CCDS7914.1, CCDS44575.1	11p11.2	2014-09-17	2013-07-17			ENSG00000181830	55343	55343		Solute carriers	20197	protein-coding gene	gene with protein product		605881	solute carrier family 35, member C1		NA	11326279, 11326280	Standard	NM_018389	NM_018389	NA	Approved	FUCT1, FLJ11320	uc010rgm.2	Q96A29		ENST00000314134.3:c.712G>A	11.37:g.45832503G>A	ENSP00000313318:p.Ala238Thr	NA	Q9BV76|Q9NUJ8	37	CCDS7914.1	.	.	.	.	.	.	.	.	.	.	G	34	5.291539	0.95546	.	.	ENSG00000181830	ENST00000442528;ENST00000456334;ENST00000530670;ENST00000314134;ENST00000540685	T;T;T	0.68765	-0.35;-0.35;-0.35	6.17	6.17	0.99709	Domain of unknown function DUF250 (1);	0.000000	0.85682	D	0.000000	D	0.84456	0.5476	M	0.86420	2.815	0.80722	D	1	D	0.71674	0.998	D	0.67900	0.954	T	0.82711	-0.0322	10	0.39692	T	0.17	-43.6867	20.8794	0.99867	0.0:0.0:1.0:0.0	.	238	Q96A29	FUCT1_HUMAN	T	225;225;159;238;238	ENSP00000412408:A225T;ENSP00000399779:A225T;ENSP00000313318:A238T	ENSP00000313318:A238T	A	+	1	0	SLC35C1	45789079	1.000000	0.71417	0.999000	0.59377	0.714000	0.41099	9.570000	0.98174	2.941000	0.99782	0.655000	0.94253	GCC	SLC35C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390139.1		+	ENST00000314134.3	Missense_Mutation	SNP	11 : 45832503 - 45832503 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	61
YTHDC1	91746	broad.mit.edu	37	4	69202958	69202958	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69202958C>T	ENST00000344157.4	-	4	1005	c.670G>A	c.(670-672)Gag>Aag	p.E224K	YTHDC1_ENST00000579690.1_Missense_Mutation_p.E224K|YTHDC1_ENST00000355665.3_Missense_Mutation_p.E224K	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	224	Glu-rich.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						tcatccacctcttcatcttct	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	84	90			NA	NA	4		NA											NA				69202958		2203	4300	6503	SO:0001583	missense			AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896	91746	91746			30626	protein-coding gene	gene with protein product					NA	12368078, 10564280	Standard	NM_133370	XM_005265706	NA	Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.670G>A	4.37:g.69202958C>T	ENSP00000339245:p.Glu224Lys	NA	Q4W5Q3|Q7Z622|Q8TF35	37	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.358313	0.61403	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.28069	1.65;1.63	5.45	5.45	0.79879	.	0.191891	0.43747	D	0.000523	T	0.18841	0.0452	N	0.14661	0.345	0.52099	D	0.999948	P;P	0.40476	0.718;0.596	B;B	0.35353	0.201;0.099	T	0.05767	-1.0865	10	0.13853	T	0.58	.	18.894	0.92416	0.0:1.0:0.0:0.0	.	224;224	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	K	224	ENSP00000339245:E224K;ENSP00000347888:E224K	ENSP00000339245:E224K	E	-	1	0	YTHDC1	68885553	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	6.747000	0.74872	2.568000	0.86640	0.460000	0.39030	GAG	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251437.1		-	ENST00000344157.4	Missense_Mutation	SNP	4 : 69202958 - 69202958 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	137	20
PSMA4	5685	broad.mit.edu	37	15	78837253	78837253	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78837253G>A	ENST00000558341.1	+	5	332				PSMA4_ENST00000413382.2_Silent_p.L39L|PSMA4_ENST00000559082.1_Silent_p.L110L|PSMA4_ENST00000560217.1_Silent_p.L79L|PSMA4_ENST00000558094.1_Silent_p.L22L|PSMA4_ENST00000044462.7_Silent_p.L110L|PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000558281.1_Silent_p.L110L			P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	NA					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						GTGAGCAGTTGGTTACAGCGC	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	99	100			NA	NA	15		NA											NA				78837253		2196	4293	6489	SO:0001627	intron_variant			BC005361	CCDS10303.1, CCDS45319.1	15q24.1	2004-01-19			ENSG00000041357	ENSG00000041357	5685	5685		Proteasome (prosome, macropain) subunits	9533	protein-coding gene	gene with protein product		176846			NA	2025653	Standard	NM_002789	NM_002789	NA	Approved	HC9, HsT17706	uc010blf.3	P25789	OTTHUMG00000143859	ENST00000558341.1:c.287+644G>A	15.37:g.78837253G>A		NA	D3DW86|Q53XP2|Q8TBD1	37																																																																																				PSMA4-017	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000418909.1		+	ENST00000558341.1	Intron	SNP	15 : 78837253 - 78837253 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	273	64
TMC7	79905	broad.mit.edu	37	16	19058438	19058438	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19058438A>G	ENST00000421369.3	+	12	1835	c.1277A>G	c.(1276-1278)cAg>cGg	p.Q426R	TMC7_ENST00000304381.5_Missense_Mutation_p.Q536R|TMC7_ENST00000569532.1_Missense_Mutation_p.Q536R	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	536						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TGGGGGCAGCAGGAGTTTGCC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													230	229	229			NA	NA	16		NA											NA				19058438		2197	4300	6497	SO:0001583	missense			AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537	79905	79905			23000	protein-coding gene	gene with protein product					NA	12812529, 12906855	Standard	NM_024847	XM_005255597	NA	Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000421369.3:c.1277A>G	16.37:g.19058438A>G	ENSP00000397081:p.Gln426Arg	NA	Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	37	CCDS53992.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.752720	0.89753	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.64803	-0.12;-0.12	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.80071	0.4556	M	0.85373	2.75	0.58432	D	0.999997	D;P	0.53151	0.958;0.915	P;P	0.62560	0.904;0.885	D	0.83469	0.0058	10	0.72032	D	0.01	.	15.9027	0.79392	1.0:0.0:0.0:0.0	.	536;536	Q7Z402;B3KSZ3	TMC7_HUMAN;.	R	536;426	ENSP00000304710:Q536R;ENSP00000397081:Q426R	ENSP00000304710:Q536R	Q	+	2	0	TMC7	18965939	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.169000	0.71913	2.146000	0.66826	0.533000	0.62120	CAG	TMC7-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000435808.1		+	ENST00000421369.3	Missense_Mutation	SNP	16 : 19058438 - 19058438 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1544	322
GSTP1	2950	broad.mit.edu	37	11	67354023	67354023	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67354023C>T	ENST00000398606.3	+	7	857	c.608C>T	c.(607-609)cCc>cTc	p.P203L	GSTP1_ENST00000498765.1_3'UTR|GSTP1_ENST00000398603.1_Missense_Mutation_p.P167L	NM_000852.3	NP_000843.1	P09211	GSTP1_HUMAN	glutathione S-transferase pi 1	203	GST C-terminal.				anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process	cytosol|protein complex	dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding			central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Ethacrynic acid(DB00903)|Glutathione(DB00143)	GTGAACCTCCCCATCAATGGC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	33	33			NA	NA	11		NA											NA				67354023		1964	4136	6100	SO:0001583	missense			U12472	CCDS41679.1	11q13.2	2014-09-17	2008-07-18		ENSG00000084207	ENSG00000084207	2950	2950	2.5.1.18	Glutathione S-transferases / Soluble	4638	protein-coding gene	gene with protein product		134660		FAEES3, GST3	NA	1885604, 7587384, 19915149	Standard	NM_000852	NM_000852	NA	Approved	GSTP	uc001omf.3	P09211	OTTHUMG00000137430	ENST00000398606.3:c.608C>T	11.37:g.67354023C>T	ENSP00000381607:p.Pro203Leu	NA	O00460|Q15690|Q5TZY3	37	CCDS41679.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646131	0.47258	.	.	ENSG00000084207	ENST00000398606;ENST00000398603	T;T	0.09073	3.02;3.02	5.3	4.39	0.52855	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	0.148823	0.44902	D	0.000416	T	0.24928	0.0605	M	0.75264	2.295	0.48135	D	0.999596	D	0.71674	0.998	D	0.66847	0.947	T	0.36841	-0.9731	9	0.87932	D	0	-47.9802	9.8953	0.41316	0.0:0.9049:0.0:0.0951	.	203	P09211	GSTP1_HUMAN	L	203;167	ENSP00000381607:P203L;ENSP00000381604:P167L	ENSP00000381604:P167L	P	+	2	0	GSTP1	67110599	1.000000	0.71417	0.954000	0.39281	0.087000	0.18053	3.640000	0.54350	1.228000	0.43614	-0.251000	0.11542	CCC	GSTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268504.1		+	ENST00000398606.3	Missense_Mutation	SNP	11 : 67354023 - 67354023 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	218	43
GNA11	2767	broad.mit.edu	37	19	3119349	3119349	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3119349A>C	ENST00000078429.4	+	6	1123	c.881A>C	c.(880-882)gAg>gCg	p.E294A	GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	294					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		TACTTCCCCGAGTTCGATGGT	0.637		NA	Mis		uveal melanoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		19	19p13.3	2767	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)		E	0													70	60	64			NA	NA	19		NA											NA				3119349		2203	4300	6503	SO:0001583	missense			AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256	2767	2767			4379	protein-coding gene	gene with protein product		139313	hypocalciuric hypercalcemia 2	HHC2	NA	1302014, 23802516	Standard	NM_002067	NM_002067	NA	Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.881A>C	19.37:g.3119349A>C	ENSP00000078429:p.Glu294Ala	NA	O15109|Q14350|Q6IB00	37	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	14.26	2.483197	0.44147	.	.	ENSG00000088256	ENST00000078429	D	0.89617	-2.54	4.12	4.12	0.48240	.	0.344132	0.26915	N	0.021849	D	0.88919	0.6568	M	0.73430	2.235	0.58432	D	0.99999	B	0.13145	0.007	B	0.29077	0.098	D	0.87515	0.2442	10	0.87932	D	0	.	11.9657	0.53033	1.0:0.0:0.0:0.0	.	294	P29992	GNA11_HUMAN	A	294	ENSP00000078429:E294A	ENSP00000078429:E294A	E	+	2	0	GNA11	3070349	1.000000	0.71417	0.999000	0.59377	0.747000	0.42532	4.525000	0.60559	1.511000	0.48818	0.391000	0.25812	GAG	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452261.2		+	ENST00000078429.4	Missense_Mutation	SNP	19 : 3119349 - 3119349 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	85
ZIC4	84107	broad.mit.edu	37	3	147108745	147108745	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147108745G>A	ENST00000491672.1	-	3	801	c.359C>T	c.(358-360)gCg>gTg	p.A120V	ZIC4_ENST00000525172.2_Missense_Mutation_p.A376V|ZIC4_ENST00000383075.3_Missense_Mutation_p.A326V|ZIC4_ENST00000473123.1_Missense_Mutation_p.A326V|ZIC4_ENST00000484399.1_Missense_Mutation_p.A326V|ZIC4_ENST00000425731.3_Missense_Mutation_p.A364V|ZIC4_ENST00000472749.2_5'UTR	NM_001243256.1	NP_001230185.1	Q8N9L1	ZIC4_HUMAN	Zic family member 4	326						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GGTACGCGCCGCCACCGCCGC	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	17	16			NA	NA	3		NA											NA				147108745		2012	4130	6142	SO:0001583	missense			AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963	84107	84107		Zinc fingers, C2H2-type	20393	protein-coding gene	gene with protein product		608948	zinc finger protein of the cerebellum 4		NA		Standard		NM_001168378	NA	Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000491672.1:c.359C>T	3.37:g.147108745G>A	ENSP00000418277:p.Ala120Val	NA	A0AVA2|B2RMQ8|Q4G157|Q9BZ94	37	CCDS58857.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812991	0.32053	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000491672	T;T;T;T;T;T	0.11930	2.81;2.79;2.73;2.81;2.81;2.76	5.18	2.38	0.29361	.	0.655713	0.12653	N	0.450327	T	0.04724	0.0128	N	0.02765	-0.5	0.30740	N	0.7463139999999999	B;B	0.09022	0.002;0.002	B;B	0.06405	0.001;0.002	T	0.41502	-0.9505	9	0.02654	T	1	.	9.5086	0.39062	0.2357:0.0:0.7643:0.0	.	376;326	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	V	326;364;376;326;326;120	ENSP00000372553:A326V;ENSP00000397695:A364V;ENSP00000435509:A376V;ENSP00000417855:A326V;ENSP00000420775:A326V;ENSP00000418277:A120V	ENSP00000372553:A326V	A	-	2	0	ZIC4	148591435	0.000000	0.05858	0.835000	0.33067	0.798000	0.45092	0.609000	0.24238	0.190000	0.20209	0.561000	0.74099	GCG	ZIC4-009	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355512.1		-	ENST00000491672.1	Missense_Mutation	SNP	3 : 147108745 - 147108745 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	229	33
GSTM2	2946	broad.mit.edu	37	1	110211562	110211562	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110211562G>A	ENST00000369831.2	+	3	222	c.128G>A	c.(127-129)aGa>aAa	p.R43K	GSTM2_ENST00000241337.4_Missense_Mutation_p.R43K|GSTM2_ENST00000464206.1_3'UTR|GSTM2_ENST00000369829.2_Missense_Mutation_p.R43K|GSTM2_ENST00000460717.3_Missense_Mutation_p.R43K|GSTM2_ENST00000442650.1_Missense_Mutation_p.R43K|GSTM2_ENST00000369827.3_Missense_Mutation_p.R41K|GSTM2_ENST00000414179.2_5'UTR					glutathione S-transferase mu 2 (muscle)	NA										kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)		GATTATGACAGAAGCCAGTGG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	54	54			NA	NA	1		NA											NA				110211562		2203	4300	6503	SO:0001583	missense			M63509	CCDS808.1, CCDS44192.1	1p13.3	2012-06-21	2008-11-26		ENSG00000213366	ENSG00000213366	2946	2946	2.5.1.18	Glutathione S-transferases / Soluble	4634	protein-coding gene	gene with protein product		138380	glutathione S-transferase M2 (muscle)		NA	2034681, 2345169	Standard	NM_000848	NM_000848	NA	Approved	GST4		P28161	OTTHUMG00000011638	ENST00000369831.2:c.128G>A	1.37:g.110211562G>A	ENSP00000358846:p.Arg43Lys	NA		37		.	.	.	.	.	.	.	.	.	.	G	10.82	1.458687	0.26248	.	.	ENSG00000213366	ENST00000442650;ENST00000369827;ENST00000369831;ENST00000460717;ENST00000467579;ENST00000369829;ENST00000241337	T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08	3.27	2.27	0.28462	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.286703	0.31660	N	0.007277	T	0.08626	0.0214	N	0.16602	0.42	0.24752	N	0.992977	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.12837	0.002;0.008;0.005	T	0.25572	-1.0128	10	0.33141	T	0.24	.	4.9241	0.13885	0.3218:0.0:0.6782:0.0	.	43;43;43	E9PEM9;P28161;Q0D2I8	.;GSTM2_HUMAN;.	K	43;41;43;43;43;43;43	ENSP00000416883:R43K;ENSP00000358842:R41K;ENSP00000358846:R43K;ENSP00000435910:R43K;ENSP00000435157:R43K;ENSP00000358844:R43K;ENSP00000241337:R43K	ENSP00000241337:R43K	R	+	2	0	GSTM2	110013085	0.919000	0.31177	1.000000	0.80357	0.908000	0.53690	0.480000	0.22244	0.616000	0.30141	0.454000	0.30748	AGA	GSTM2-001	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000032166.2		+	ENST00000369831.2	Missense_Mutation	SNP	1 : 110211562 - 110211562 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	452	96
MYO18B	84700	broad.mit.edu	37	22	26399271	26399271	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26399271G>A	ENST00000407587.2	+	41	6500	c.6331G>A	c.(6331-6333)Gag>Aag	p.E2111K	MYO18B_ENST00000335473.7_Missense_Mutation_p.E2110K|MYO18B_ENST00000536101.1_Missense_Mutation_p.E2110K			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2110						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.E2111Q(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGGCCGAAAAGAGATGTAAGT	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)	skin(1)											56	64	62			NA	NA	22		NA											NA				26399271		1993	4159	6152	SO:0001583	missense			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454	84700	84700		Myosins / Myosin superfamily : Class XVIII	18150	protein-coding gene	gene with protein product		607295			NA	12209013, 12547197	Standard	NM_032608	NM_032608	NA	Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6331G>A	22.37:g.26399271G>A	ENSP00000386096:p.Glu2111Lys	NA	B2RWP3|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	37		.	.	.	.	.	.	.	.	.	.	G	16.06	3.015121	0.54468	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86694	-2.14;-2.14;-2.16	4.29	4.29	0.51040	.	0.334578	0.25094	N	0.033186	D	0.89808	0.6822	L	0.57536	1.79	0.35715	D	0.816692	P;P;P;D	0.64830	0.827;0.956;0.932;0.994	P;P;P;P	0.59056	0.52;0.572;0.655;0.851	D	0.91894	0.5526	10	0.54805	T	0.06	.	12.548	0.56212	0.0:0.0:1.0:0.0	.	1623;2110;2111;2110	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	K	2110;2110;2111	ENSP00000441229:E2110K;ENSP00000334563:E2110K;ENSP00000386096:E2111K	ENSP00000334563:E2110K	E	+	1	0	MYO18B	24729271	1.000000	0.71417	0.996000	0.52242	0.299000	0.27559	3.817000	0.55668	2.683000	0.91414	0.557000	0.71058	GAG	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000400691.1		+	ENST00000407587.2	Missense_Mutation	SNP	22 : 26399271 - 26399271 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	77	15
C19orf66	55337	broad.mit.edu	37	19	10200693	10200693	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10200693C>A	ENST00000397881.3	+	5	678	c.201C>A	c.(199-201)gtC>gtA	p.V67V	CTD-2240E14.4_ENST00000589622.1_RNA|C19orf66_ENST00000253110.11_Silent_p.V118V|C19orf66_ENST00000591813.1_Silent_p.V118V			Q9NUL5	CS066_HUMAN	chromosome 19 open reading frame 66	118										large_intestine(3)|skin(1)	4						GCGACCACGTCTGGTGGCGCC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	40	39			NA	NA	19		NA											NA				10200693		2145	4244	6389	SO:0001819	synonymous_variant				CCDS45957.1	19p13.2	2012-10-26			ENSG00000130813	ENSG00000130813	55337	55337			25649	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_018381	NM_018381	NA	Approved	FLJ11286	uc002mmu.4	Q9NUL5		ENST00000397881.3:c.201C>A	19.37:g.10200693C>A		NA	A8MQT9|Q4G188|Q8IYH6|Q8N8V1	37																																																																																				C19orf66-004	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000451134.1		+	ENST00000397881.3	Silent	SNP	19 : 10200693 - 10200693 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	59	8
GLI3	2737	broad.mit.edu	37	7	42005592	42005592	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42005592G>T	ENST00000395925.3	-	15	3163	c.3079C>A	c.(3079-3081)Ctc>Atc	p.L1027I	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1027					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CAGCTGCTGAGGCTGCTGAAG	0.716		NA							Pallister-Hall syndrome;Greig Cephalopolysyndactyly					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	17	16			NA	NA	7		NA											NA				42005592		2196	4291	6487	SO:0001583	missense	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571	2737	2737		Zinc fingers, C2H2-type	4319	protein-coding gene	gene with protein product	zinc finger protein GLI3, oncogene GLI3, DNA-binding protein	165240	Greig cephalopolysyndactyly syndrome, GLI-Kruppel family member GLI3, glioma-associated oncogene family zinc finger 3	GCPS, PHS	NA	2118997	Standard	NM_000168	NM_000168	NA	Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3079C>A	7.37:g.42005592G>T	ENSP00000379258:p.Leu1027Ile	NA	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	37	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622484	0.46840	.	.	ENSG00000106571	ENST00000395925	T	0.16743	2.32	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.25791	0.0628	M	0.70595	2.14	0.80722	D	1	P	0.37824	0.609	B	0.37601	0.254	T	0.03384	-1.1042	10	0.46703	T	0.11	.	19.025	0.92929	0.0:0.0:1.0:0.0	.	1027	P10071	GLI3_HUMAN	I	1027	ENSP00000379258:L1027I	ENSP00000379258:L1027I	L	-	1	0	GLI3	41972117	1.000000	0.71417	0.979000	0.43373	0.014000	0.08584	4.491000	0.60326	2.473000	0.83533	0.563000	0.77884	CTC	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250806.3		-	ENST00000395925.3	Missense_Mutation	SNP	7 : 42005592 - 42005592 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	208	42
TMEM215	401498	broad.mit.edu	37	9	32784835	32784835	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32784835C>T	ENST00000342743.5	+	2	1019	c.654C>T	c.(652-654)taC>taT	p.Y218Y		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	218						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						ATGACAGATACTGTTGTTATA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	66	69			NA	NA	9		NA											NA				32784835		2190	4273	6463	SO:0001819	synonymous_variant				CCDS6530.1	9p21.1	2008-08-08			ENSG00000188133	ENSG00000188133	401498	401498			33816	protein-coding gene	gene with protein product					NA		Standard	NM_212558	NM_212558	NA	Approved		uc003zri.4	Q68D42	OTTHUMG00000129521	ENST00000342743.5:c.654C>T	9.37:g.32784835C>T		NA	Q6ZUU2	37	CCDS6530.1																																																																																			TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251701.1		+	ENST00000342743.5	Silent	SNP	9 : 32784835 - 32784835 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	451	85
GNG7	2788	broad.mit.edu	37	19	2515062	2515062	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2515062C>T	ENST00000382159.3	-	5	362	c.165G>A	c.(163-165)tcG>tcA	p.S55S		NM_052847.2	NP_443079.1	O60262	GBG7_HUMAN	guanine nucleotide binding protein (G protein), gamma 7	55					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			central_nervous_system(2)|large_intestine(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGGTTCTCCGAGGCAGGGA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	83	81			NA	NA	19		NA											NA				2515062		2203	4300	6503	SO:0001819	synonymous_variant			AB010414	CCDS12091.1	19p13.3	2010-02-17			ENSG00000176533	ENSG00000176533	2788	2788			4410	protein-coding gene	gene with protein product		604430			NA	9600093	Standard	NM_052847	NM_052847	NA	Approved	FLJ00058	uc002lwd.2	O60262		ENST00000382159.3:c.165G>A	19.37:g.2515062C>T		NA	B2R496	37	CCDS12091.1																																																																																			GNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451345.1		-	ENST00000382159.3	Silent	SNP	19 : 2515062 - 2515062 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	659	119
SYNE1	23345	broad.mit.edu	37	6	152647525	152647525	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152647525C>T	ENST00000367255.5	-	79	15800	c.15199G>A	c.(15199-15201)Ggc>Agc	p.G5067S	SYNE1_ENST00000448038.1_Missense_Mutation_p.G4996S|SYNE1_ENST00000423061.1_Missense_Mutation_p.G4996S|SYNE1_ENST00000265368.4_Missense_Mutation_p.G5067S|SYNE1_ENST00000341594.5_Missense_Mutation_p.G4814S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5067					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTTCTTTGCCGGTTGGCTTG	0.522		NA								HNSCC(10;0.0054)			C	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0													88	89	89			NA	NA	6		NA											NA				152647525		2203	4300	6503	SO:0001583	missense			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018	23345	23345			17089	protein-coding gene	gene with protein product	myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1	608441	chromosome 6 open reading frame 98	C6orf98	NA	9872452, 10878022	Standard	NM_182961	NM_182961	NA	Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.15199G>A	6.37:g.152647525C>T	ENSP00000356224:p.Gly5067Ser	NA	O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	37	CCDS5236.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.01	3.527783	0.64860	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.39	5.56	5.56	0.83823	.	0.231634	0.30244	N	0.010061	T	0.27798	0.0684	L	0.50333	1.59	0.80722	D	1	D;P;P;D	0.58268	0.982;0.935;0.935;0.961	P;B;B;B	0.46076	0.503;0.238;0.238;0.418	T	0.02269	-1.1185	10	0.18710	T	0.47	.	19.5248	0.95199	0.0:1.0:0.0:0.0	.	5067;5067;5067;4996	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	S	5067;4996;5067;4996;4814	ENSP00000356224:G5067S;ENSP00000396024:G4996S;ENSP00000265368:G5067S;ENSP00000390975:G4996S;ENSP00000341887:G4814S	ENSP00000265368:G5067S	G	-	1	0	SYNE1	152689218	0.994000	0.37717	0.514000	0.27761	0.811000	0.45836	6.047000	0.71038	2.621000	0.88768	0.591000	0.81541	GGC	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334755.2		-	ENST00000367255.5	Missense_Mutation	SNP	6 : 152647525 - 152647525 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	383	75
SRR	63826	broad.mit.edu	37	17	2226545	2226545	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2226545C>T	ENST00000344595.5	+	7	1028	c.710C>T	c.(709-711)gCa>gTa	p.A237V	TSR1_ENST00000301364.5_3'UTR|SRR_ENST00000576848.1_Missense_Mutation_p.A11V	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	237					D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GAAACCATAGCAGATGGTGTC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	146	149			NA	NA	17		NA											NA				2226545		2203	4300	6503	SO:0001583	missense			AF169974	CCDS11017.1	17p13	2007-01-18			ENSG00000167720	ENSG00000167720	63826	63826			14398	protein-coding gene	gene with protein product		606477			NA	17067558, 15953485, 15193426	Standard	NM_021947	NM_021947	NA	Approved	ILV1, ISO1	uc002fue.1	Q9GZT4	OTTHUMG00000090583	ENST00000344595.5:c.710C>T	17.37:g.2226545C>T	ENSP00000339435:p.Ala237Val	NA	D3DTI5|Q6IA55	37	CCDS11017.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694601	0.88830	.	.	ENSG00000167720	ENST00000344595	D	0.97455	-4.39	5.88	5.88	0.94601	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.224065	0.47455	N	0.000236	D	0.98704	0.9565	M	0.90595	3.13	0.80722	D	1	D	0.71674	0.998	D	0.67725	0.953	D	0.99421	1.0933	10	0.87932	D	0	-23.5163	19.2253	0.93816	0.0:1.0:0.0:0.0	.	237	Q9GZT4	SRR_HUMAN	V	237	ENSP00000339435:A237V	ENSP00000339435:A237V	A	+	2	0	SRR	2173295	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.992000	0.63889	2.788000	0.95919	0.555000	0.69702	GCA	SRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207129.2		+	ENST00000344595.5	Missense_Mutation	SNP	17 : 2226545 - 2226545 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	654	17
SUPT16H	11198	broad.mit.edu	37	14	21830444	21830444	+	Nonsense_Mutation	SNP	G	G	A	rs143235888	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21830444G>A	ENST00000216297.2	-	15	2043	c.1705C>T	c.(1705-1707)Cga>Tga	p.R569*		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	569					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AAGTTGATTCGCAAGTAAGTA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	61	62			NA	NA	14		NA											NA				21830444		2203	4300	6503	SO:0001587	stop_gained			AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201	11198	11198			11465	protein-coding gene	gene with protein product	facilitates chromatin remodeling 140 kDa subunit	605012	suppressor of Ty (S.cerevisiae) 16 homolog		NA	9489704, 11239457	Standard		NM_007192	NA	Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.1705C>T	14.37:g.21830444G>A	ENSP00000216297:p.Arg569*	NA	Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	37	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	G	41	8.835193	0.98972	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.72	4.83	0.62350	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.8971	9.2709	0.37670	0.0:0.1376:0.5956:0.2667	.	.	.	.	X	569	.	ENSP00000216297:R569X	R	-	1	2	SUPT16H	20900284	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.346000	0.52190	1.400000	0.46741	0.650000	0.86243	CGA	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000074025.2		-	ENST00000216297.2	Nonsense_Mutation	SNP	14 : 21830444 - 21830444 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	256	52
SEMA4C	54910	broad.mit.edu	37	2	97527040	97527040	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97527040G>T	ENST00000305476.5	-	15	1957	c.1825C>A	c.(1825-1827)Ctc>Atc	p.L609I		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	609	Ig-like C2-type.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						AGGGCCTGGAGCCGGGCATCG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	22	21			NA	NA	2		NA											NA				97527040		2199	4290	6489	SO:0001583	missense			AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758	54910	54910		Semaphorins, Immunoglobulin superfamily / Immunoglobulin-like domain containing	10731	protein-coding gene	gene with protein product	M-Sema F	604462		SEMAI	NA	7656991	Standard	NM_017789	NM_017789	NA	Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.1825C>A	2.37:g.97527040G>T	ENSP00000306844:p.Leu609Ile	NA	Q32MJ3|Q7Z5X0	37	CCDS2029.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.498736	0.44455	.	.	ENSG00000168758	ENST00000305476	T	0.04758	3.56	4.69	4.69	0.59074	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.150600	0.45606	D	0.000351	T	0.15998	0.0385	L	0.51422	1.61	0.58432	D	0.999996	B;P;D	0.69078	0.382;0.638;0.997	B;B;D	0.72625	0.133;0.212;0.978	T	0.01118	-1.1446	10	0.37606	T	0.19	.	16.5234	0.84322	0.0:0.0:1.0:0.0	.	609;319;150	Q9C0C4;Q6P5A5;Q71RG3	SEM4C_HUMAN;.;.	I	609	ENSP00000306844:L609I	ENSP00000306844:L609I	L	-	1	0	SEMA4C	96890767	0.998000	0.40836	0.961000	0.40146	0.964000	0.63967	3.308000	0.51896	2.417000	0.82017	0.561000	0.74099	CTC	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252957.1		-	ENST00000305476.5	Missense_Mutation	SNP	2 : 97527040 - 97527040 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	347	17
ABCG2	9429	broad.mit.edu	37	4	89034473	89034473	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89034473G>A	ENST00000237612.3	-	9	1721	c.1176C>T	c.(1174-1176)ccC>ccT	p.P392P	ABCG2_ENST00000515655.1_Silent_p.P392P	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	392	ABC transmembrane type-2.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	TAGAGGCCTGGGGATTACCCA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	113	112			NA	NA	4		NA											NA				89034473		2203	4300	6503	SO:0001819	synonymous_variant			AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777	9429	9429		CD molecules, ATP binding cassette transporters / subfamily G	74	protein-coding gene	gene with protein product		603756	ATP-binding cassette, sub-family G (WHITE), member 2		NA	8894702, 9861027	Standard	NM_004827	NM_001257386	NA	Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.1176C>T	4.37:g.89034473G>A		NA	A0A1W3|A8K1T5|O95374|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	37	CCDS3628.1																																																																																			ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253051.1		-	ENST00000237612.3	Silent	SNP	4 : 89034473 - 89034473 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	642	128
ARHGAP44	9912	broad.mit.edu	37	17	12859293	12859293	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:12859293G>T	ENST00000379672.5	+	14	1546	c.1246G>T	c.(1246-1248)Gaa>Taa	p.E416*	ARHGAP44_ENST00000340825.3_Nonsense_Mutation_p.E416*|ARHGAP44_ENST00000262444.9_Nonsense_Mutation_p.E416*	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	416	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GCCACAAGCAGAAGGGTAAGT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	50	51			NA	NA	17		NA											NA				12859293		2011	4167	6178	SO:0001587	stop_gained				CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740	9912	9912		Rho GTPase activating proteins	29096	protein-coding gene	gene with protein product					NA	19273615	Standard	NM_014859	NM_014859	NA	Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.1246G>T	17.37:g.12859293G>T	ENSP00000368994:p.Glu416*	NA	A8MQB2|O75160|Q7Z5Z7	37	CCDS45616.1	.	.	.	.	.	.	.	.	.	.	G	40	8.093542	0.98651	.	.	ENSG00000006740	ENST00000379672;ENST00000544416;ENST00000340825	.	.	.	5.67	5.67	0.87782	.	0.110120	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	17.2693	0.87096	0.0:0.0:1.0:0.0	.	.	.	.	X	416;78;416	.	ENSP00000342566:E416X	E	+	1	0	ARHGAP44	12800018	1.000000	0.71417	0.985000	0.45067	0.921000	0.55340	9.420000	0.97426	2.676000	0.91093	0.655000	0.94253	GAA	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000441566.1		+	ENST00000379672.5	Nonsense_Mutation	SNP	17 : 12859293 - 12859293 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	132	6
PRDM2	7799	broad.mit.edu	37	1	14105221	14105221	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:14105221C>T	ENST00000235372.7	+	8	1787	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.R110W|PRDM2_ENST00000343137.4_Missense_Mutation_p.R110W|PRDM2_ENST00000311066.5_Missense_Mutation_p.R311W|PRDM2_ENST00000505823.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	311	Retinoblastoma protein binding.			EPEIRCDEKPED -> SQKYGVMRSQKI (in Ref. 4; AAA87023).		Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GCCAGAAATACGGTGTGATGA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	93	93			NA	NA	1		NA											NA				14105221		2203	4300	6503	SO:0001583	missense			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731	7799	7799		Chromatin-modifying enzymes / K-methyltransferases	9347	protein-coding gene	gene with protein product	retinoblastoma protein-binding zinc finger protein, retinoblastoma protein-interacting zinc finger protein, MTE-binding protein, zinc-finger DNA-binding protein, GATA-3 binding protein G3B	601196			NA	7538672	Standard	NM_012231	NM_012231	NA	Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.931C>T	1.37:g.14105221C>T	ENSP00000235372:p.Arg311Trp	NA	Q13149|Q14550|Q5VUL9	37	CCDS150.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927125	0.34002	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01705	4.79;4.68;4.68;4.68	5.67	4.73	0.59995	.	0.997794	0.08122	N	0.994503	T	0.07908	0.0198	L	0.57536	1.79	0.09310	N	1	D;D;D;D	0.89917	0.999;0.978;1.0;1.0	P;B;D;D	0.64321	0.841;0.328;0.922;0.924	T	0.37753	-0.9692	10	0.72032	D	0.01	.	11.1206	0.48287	0.0:0.7614:0.2386:0.0	.	311;169;311;311	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	W	311;311;311;110;110	ENSP00000235372:R311W;ENSP00000312352:R311W;ENSP00000411103:R110W;ENSP00000341621:R110W	ENSP00000235372:R311W	R	+	1	2	PRDM2	13977808	0.000000	0.05858	0.822000	0.32727	0.952000	0.60782	0.436000	0.21526	2.666000	0.90696	0.561000	0.74099	CGG	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021792.2		+	ENST00000235372.7	Missense_Mutation	SNP	1 : 14105221 - 14105221 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	465	95
MARK2	2011	broad.mit.edu	37	11	63676641	63676641	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63676641C>T	ENST00000509502.2	+	18	2633	c.2170C>T	c.(2170-2172)Cgg>Tgg	p.R724W	MARK2_ENST00000513765.2_Missense_Mutation_p.R734W|MARK2_ENST00000502399.3_Missense_Mutation_p.R757W|MARK2_ENST00000508192.1_Missense_Mutation_p.R703W|MARK2_ENST00000425897.2_Missense_Mutation_p.R678W|MARK2_ENST00000377810.3_Missense_Mutation_p.R670W|MARK2_ENST00000350490.7_Missense_Mutation_p.R688W|MARK2_ENST00000408948.3_Missense_Mutation_p.R670W|MARK2_ENST00000413835.2_Missense_Mutation_p.R713W|MARK2_ENST00000361128.5_Missense_Mutation_p.R698W|MARK2_ENST00000402010.2_Missense_Mutation_p.R767W|MARK2_ENST00000315032.8_Missense_Mutation_p.R758W|MARK2_ENST00000377809.4_Missense_Mutation_p.R752W	NM_017490.3	NP_059672.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	767					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						TCGATTTAAGCGGATATCGGG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	77	79			NA	NA	11		NA											NA				63676641		2201	4297	6498	SO:0001583	missense			BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518	2011	2011			3332	protein-coding gene	gene with protein product	ELKL motif kinase 1, serine/threonine kinase, protein-serine/threonine kinase, Ser/Thr protein kinase PAR-1B	600526	ELKL motif kinase	EMK1	NA	9730619, 10516437	Standard	NM_017490	NM_017490	NA	Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.2170C>T	11.37:g.63676641C>T	ENSP00000423974:p.Arg724Trp	NA	Q15449|Q15524|Q5XGA3|Q68A18|Q96HB3|Q96RG0	37	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646942	0.67358	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02	4.41	3.49	0.39957	Kinase-associated KA1 (4);	0.000000	0.64402	D	0.000001	T	0.81941	0.4929	M	0.91818	3.245	0.58432	D	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;0.999;0.996;1.0;0.999	D	0.85909	0.1439	10	0.87932	D	0	.	13.0541	0.58969	0.1623:0.8377:0.0:0.0	.	678;724;688;698;767;703	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	W	767;758;752;713;670;703;698;688;759;724;734;670;678	ENSP00000385751:R767W;ENSP00000326632:R758W;ENSP00000367040:R752W;ENSP00000389184:R713W;ENSP00000367041:R670W;ENSP00000425765:R703W;ENSP00000355091:R698W;ENSP00000294247:R688W;ENSP00000423974:R724W;ENSP00000421075:R734W;ENSP00000386128:R670W;ENSP00000415494:R678W	ENSP00000326632:R758W	R	+	1	2	MARK2	63433217	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.703000	0.25646	1.203000	0.43233	0.542000	0.68232	CGG	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360862.2		+	ENST00000509502.2	Missense_Mutation	SNP	11 : 63676641 - 63676641 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	558	82
SEPT1	1731	broad.mit.edu	37	16	30392552	30392552	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30392552C>A	ENST00000321367.3	-	7	640	c.595G>T	c.(595-597)Gat>Tat	p.D199Y	SEPT1_ENST00000605106.1_Missense_Mutation_p.D157Y|SEPT1_ENST00000571393.1_Missense_Mutation_p.D152Y	NM_052838.4	NP_443070.5	Q8WYJ6	SEPT1_HUMAN	septin 1	152					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			AAGGCCACATCTAGGGGCCGG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	89	90			NA	NA	16		NA											NA				30392552		2197	4300	6497	SO:0001583	missense			AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	1731	1731	3.1.5.1	Septins	2879	protein-coding gene	gene with protein product		612897		DIFF6	NA	8697812	Standard	NM_052838	NM_052838	NA	Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984	ENST00000321367.3:c.595G>T	16.37:g.30392552C>A	ENSP00000324511:p.Asp199Tyr	NA	B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	37		.	.	.	.	.	.	.	.	.	.	C	19.04	3.748985	0.69533	.	.	ENSG00000180096	ENST00000321367	.	.	.	6.07	6.07	0.98685	.	0.175497	0.39909	N	0.001224	D	0.90256	0.6953	H	0.96662	3.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92568	0.6064	9	0.87932	D	0	.	19.4154	0.94694	0.0:1.0:0.0:0.0	.	152	Q8WYJ6	SEPT1_HUMAN	Y	152	.	ENSP00000324511:D152Y	D	-	1	0	SEPT1	30300053	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	7.783000	0.85696	2.884000	0.98904	0.655000	0.94253	GAT	SEPT1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000109636.4		-	ENST00000321367.3	Missense_Mutation	SNP	16 : 30392552 - 30392552 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	545	121
IGSF10	285313	broad.mit.edu	37	3	151154517	151154517	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151154517A>T	ENST00000282466.3	-	6	7831	c.7832T>A	c.(7831-7833)cTt>cAt	p.L2611H	MED12L_ENST00000474524.1_3'UTR|IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2611	Ig-like C2-type 12.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATCACTACCAAGTGGGTTCTT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	121	121			NA	NA	3		NA											NA				151154517		2203	4300	6503	SO:0001583	missense			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580	285313	285313		Immunoglobulin superfamily / I-set domain containing	26384	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_178822	NM_178822	NA	Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.7832T>A	3.37:g.151154517A>T	ENSP00000282466:p.Leu2611His	NA	Q86YJ9|Q8N772|Q8NA84	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	A	19.19	3.780214	0.70222	.	.	ENSG00000152580	ENST00000282466	T	0.68765	-0.35	5.29	5.29	0.74685	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.40908	D	0.000993	T	0.70107	0.3186	N	0.20401	0.57	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.969	T	0.71331	-0.4625	10	0.38643	T	0.18	.	15.5146	0.75812	1.0:0.0:0.0:0.0	.	2611;638	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	H	2611	ENSP00000282466:L2611H	ENSP00000282466:L2611H	L	-	2	0	IGSF10	152637207	1.000000	0.71417	0.075000	0.20258	0.984000	0.73092	8.851000	0.92205	2.123000	0.65237	0.533000	0.62120	CTT	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357782.1		-	ENST00000282466.3	Missense_Mutation	SNP	3 : 151154517 - 151154517 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	681	127
WDFY3	23001	broad.mit.edu	37	4	85600086	85600086	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85600086C>T	ENST00000295888.4	-	65	10540	c.10133G>A	c.(10132-10134)aGc>aAc	p.S3378N	WDFY3_ENST00000322366.6_Missense_Mutation_p.S3361N	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3378						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTTCAATCTGCTGTAATTCCG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	76	73			NA	NA	4		NA											NA				85600086		2203	4300	6503	SO:0001583	missense			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625	23001	23001		Zinc fingers, FYVE domain containing, WD repeat domain containing	20751	protein-coding gene	gene with protein product					NA	10231032	Standard	NM_014991	NM_014991	NA	Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.10133G>A	4.37:g.85600086C>T	ENSP00000295888:p.Ser3378Asn	NA	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	6.969	0.548834	0.13312	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.62941	-0.01;-0.01	4.81	3.88	0.44766	WD40 repeat-like-containing domain (1);	0.325080	0.40554	N	0.001078	T	0.27169	0.0666	N	0.01048	-1.04	0.37895	D	0.930854	B	0.02656	0.0	B	0.01281	0.0	T	0.30031	-0.9992	10	0.10902	T	0.67	.	9.9806	0.41811	0.0:0.8333:0.0:0.1667	.	3378	Q8IZQ1	WDFY3_HUMAN	N	3361;3378	ENSP00000318466:S3361N;ENSP00000295888:S3378N	ENSP00000295888:S3378N	S	-	2	0	WDFY3	85819110	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	1.453000	0.35167	2.483000	0.83821	0.650000	0.86243	AGC	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252811.2		-	ENST00000295888.4	Missense_Mutation	SNP	4 : 85600086 - 85600086 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	666	104
FAM126B	285172	broad.mit.edu	37	2	201887576	201887576	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201887576A>C	ENST00000418596.3	-	4	318	c.131T>G	c.(130-132)gTt>gGt	p.V44G	FAM126B_ENST00000485144.1_5'UTR	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	NA						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						ATCTTGAATAACTTTATAGAG	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	93	93			NA	NA	2		NA											NA				201887576		2203	4300	6503	SO:0001583	missense			BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744	285172	285172			28593	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_173822	NM_173822	NA	Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.131T>G	2.37:g.201887576A>C	ENSP00000393667:p.Val44Gly	NA	B2RCG7|Q4ZG87|Q53TX6	37	CCDS2335.1	.	.	.	.	.	.	.	.	.	.	A	18.46	3.627956	0.66901	.	.	ENSG00000155744	ENST00000418596;ENST00000452799;ENST00000453765;ENST00000446678	T;T;T;D	0.85955	-1.25;-1.25;-1.25;-2.05	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.92499	0.7618	M	0.80028	2.48	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.93478	0.6825	10	0.87932	D	0	-12.7992	15.9596	0.79918	1.0:0.0:0.0:0.0	.	44	Q8IXS8	F126B_HUMAN	G	44	ENSP00000393667:V44G;ENSP00000401905:V44G;ENSP00000408374:V44G;ENSP00000412139:V44G	ENSP00000286181:V44G	V	-	2	0	FAM126B	201595821	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	8.860000	0.92272	2.220000	0.72140	0.533000	0.62120	GTT	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256285.3		-	ENST00000418596.3	Missense_Mutation	SNP	2 : 201887576 - 201887576 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	440	64
FMO5	2330	broad.mit.edu	37	1	146672826	146672826	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:146672826G>A	ENST00000254090.4	-	7	1479	c.1091C>T	c.(1090-1092)cCa>cTa	p.P364L	FMO5_ENST00000441068.2_Missense_Mutation_p.P364L|RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000369272.3_Intron|RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	364						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					TGCAAGAGTTGGCCTTTCCAG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	120	120			NA	NA	1		NA											NA				146672826		2203	4300	6503	SO:0001583	missense			Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781	2330	2330			3773	protein-coding gene	gene with protein product		603957			NA	8786146, 9119381	Standard	NM_001461	NM_001461	NA	Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.1091C>T	1.37:g.146672826G>A	ENSP00000254090:p.Pro364Leu	NA	B2RBG1	37	CCDS926.1	.	.	.	.	.	.	.	.	.	.	.	31	5.073679	0.94000	.	.	ENSG00000131781	ENST00000441068;ENST00000254090	T;T	0.60424	0.19;0.19	6.17	6.17	0.99709	.	0.101544	0.64402	D	0.000001	T	0.82001	0.4942	H	0.95079	3.62	0.80722	D	1	D;P	0.76494	0.999;0.949	D;P	0.77004	0.989;0.9	D	0.85815	0.1382	10	0.72032	D	0.01	-13.6878	18.3732	0.90420	0.0:0.0:1.0:0.0	.	364;364	P49326;C9JJD1	FMO5_HUMAN;.	L	364	ENSP00000416011:P364L;ENSP00000254090:P364L	ENSP00000254090:P364L	P	-	2	0	FMO5	145139450	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.848000	0.99507	2.941000	0.99782	0.655000	0.94253	CCA	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040373.2		-	ENST00000254090.4	Missense_Mutation	SNP	1 : 146672826 - 146672826 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	323	35
PTPRB	5787	broad.mit.edu	37	12	70986244	70986244	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70986244C>A	ENST00000550358.1	-	7	1623	c.1598G>T	c.(1597-1599)gGa>gTa	p.G533V	PTPRB_ENST00000551525.1_Missense_Mutation_p.G532V|PTPRB_ENST00000334414.6_Missense_Mutation_p.G533V|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Missense_Mutation_p.G315V|PTPRB_ENST00000538708.1_Missense_Mutation_p.G315V|PTPRB_ENST00000261266.5_Missense_Mutation_p.G315V|PTPRB_ENST00000451516.2_Missense_Mutation_p.G315V			P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	403	Fibronectin type-III 6.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATCCACATTTCCAGGAGGTCT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	59	60			NA	NA	12		NA											NA				70986244		1852	4099	5951	SO:0001583	missense			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11					NA	5787		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing	9665	protein-coding gene	gene with protein product		176882		PTPB	NA	2169617	Standard		NM_001109754	NA	Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000550358.1:c.1598G>T	12.37:g.70986244C>A	ENSP00000448058:p.Gly533Val	NA	B7ZKT0|C9JX87|Q14D85|Q3MIV7	37		.	.	.	.	.	.	.	.	.	.	C	25.0	4.589837	0.86851	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.07688	3.17;3.17;3.17;3.17;3.17;3.17;3.17;3.17	5.96	5.96	0.96718	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.39118	0.1066	M	0.88105	2.93	0.80722	D	1	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	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0	T	0.29549	-1.0008	10	0.72032	D	0.01	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	315;315;412;533;532;533;315;533	P23467-2;F5H3G6;Q6ZR19;Q6ZTX7;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;.;PTPRB_HUMAN;.	V	533;315;533;533;315;315;315;532;412	ENSP00000334928:G533V;ENSP00000393028:G315V;ENSP00000448058:G533V;ENSP00000438927:G315V;ENSP00000447302:G315V;ENSP00000261266:G315V;ENSP00000448349:G532V;ENSP00000446982:G412V	ENSP00000261266:G315V	G	-	2	0	PTPRB	69272511	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	5.677000	0.68142	2.832000	0.97577	0.655000	0.94253	GGA	PTPRB-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000404436.1		-	ENST00000550358.1	Missense_Mutation	SNP	12 : 70986244 - 70986244 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	218	12
GGT7	2686	broad.mit.edu	37	20	33447341	33447341	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33447341G>A	ENST00000336431.5	-	7	963	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	307					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						AGGTCGGGCCGATGCAGCAAC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG	1,4403	2.1+/-5.4	0,1,2201	32	26	28		919	0.9	0.5	20		28	0,8596		0,0,4298	yes	missense	GGT7	NM_178026.2	101	0,1,6499	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging	307/663	33447341	1,12999	2202	4298	6500	SO:0001583	missense			AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067	2686	2686		Gamma-glutamyltransferases	4259	protein-coding gene	gene with protein product		612342	gamma-glutamyltransferase-like 3	GGTL5, GGTL3	NA	8104871, 18357469	Standard	NM_178026	NM_178026	NA	Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.919C>T	20.37:g.33447341G>A	ENSP00000338964:p.Arg307Trp	NA	Q8N899|Q8NF66|Q9BYP5|Q9BYP6	37	CCDS13242.2	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305865	0.60305	2.27E-4	0.0	ENSG00000131067	ENST00000336431	T	0.07567	3.18	5.84	0.916	0.19373	.	0.059319	0.64402	D	0.000003	T	0.25975	0.0633	M	0.71871	2.18	0.32068	N	0.594845	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.965	T	0.39121	-0.9629	10	0.66056	D	0.02	-16.4042	15.8612	0.79021	0.0:0.0:0.4708:0.5292	.	307;307	A4FU32;Q9UJ14	.;GGT7_HUMAN	W	307	ENSP00000338964:R307W	ENSP00000338964:R307W	R	-	1	2	GGT7	32911002	0.990000	0.36364	0.514000	0.27761	0.736000	0.42039	2.037000	0.41174	0.322000	0.23283	0.561000	0.74099	CGG	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078816.2		-	ENST00000336431.5	Missense_Mutation	SNP	20 : 33447341 - 33447341 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	162	28
MFRP	83552	broad.mit.edu	37	11	119212585	119212585	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119212585C>T	ENST00000530681.1	-	12	1641	c.1497G>A	c.(1495-1497)gaG>gaA	p.E499E	MFRP_ENST00000360167.4_Intron|MFRP_ENST00000555262.1_Silent_p.E499E|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000449574.2_Silent_p.E499E	NM_001278431.1	NP_001265360.1			membrane frizzled-related protein	NA										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		CGCTGAGGACCTCTACCACCT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	0,4398		0,0,2199	94	83	86		,1497	-3.6	0.1	11		86	4,8586	3.7+/-12.6	0,4,4291	no	utr-5,coding-synonymous	MFRP,C1QTNF5	NM_015645.3,NM_031433.2	,	0,4,6490	TT,TC,CC	NA	0.0466,0.0,0.0308	,	,499/580	119212585	4,12984	2199	4295	6494	SO:0001819	synonymous_variant			AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718	83552	83552			18121	protein-coding gene	gene with protein product	membrane-type frizzled-related protein, complement C1q tumor necrosis factor-related protein 5 precursor variant 1	606227			NA	11263980	Standard	NM_031433	NM_031433	NA	Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.1497G>A	11.37:g.119212585C>T		NA		37	CCDS8421.1																																																																																			MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000415179.1		-	ENST00000530681.1	Silent	SNP	11 : 119212585 - 119212585 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	336	72
OTOF	9381	broad.mit.edu	37	2	26698861	26698861	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26698861C>A	ENST00000272371.2	-	24	3038	c.2912G>T	c.(2911-2913)aGc>aTc	p.S971I	OTOF_ENST00000338581.6_Missense_Mutation_p.S224I|OTOF_ENST00000339598.3_Missense_Mutation_p.S224I|OTOF_ENST00000403946.3_Missense_Mutation_p.S971I|OTOF_ENST00000402415.3_Missense_Mutation_p.S281I	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	971	C2 3.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCAAAGAGGCTGCGGGCCTG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(102;732 1451 20652 24062 31372)							NA				0													43	39	40			NA	NA	2		NA											NA				26698861		2201	4295	6496	SO:0001583	missense			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155	9381	9381			8515	protein-coding gene	gene with protein product	fer-1-like family member 2	603681		DFNB9	NA	10192385, 18381613	Standard		NM_194248	NA	Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.2912G>T	2.37:g.26698861C>A	ENSP00000272371:p.Ser971Ile	NA	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	37	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.877370	0.91664	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	5.41	5.41	0.78517	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.81460	0.4827	M	0.72576	2.205	0.80722	D	1	D;P;D;D	0.89917	1.0;0.916;1.0;0.995	D;P;D;D	0.77004	0.989;0.583;0.988;0.974	T	0.81174	-0.1053	10	0.46703	T	0.11	-41.4175	18.7824	0.91939	0.0:1.0:0.0:0.0	.	971;224;281;224	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	I	224;224;281;971;971	ENSP00000345137:S224I;ENSP00000344521:S224I;ENSP00000383906:S281I;ENSP00000272371:S971I;ENSP00000385255:S971I	ENSP00000272371:S971I	S	-	2	0	OTOF	26552365	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	6.017000	0.70805	2.546000	0.85860	0.561000	0.74099	AGC	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214047.3		-	ENST00000272371.2	Missense_Mutation	SNP	2 : 26698861 - 26698861 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	172	41
CEP89	84902	broad.mit.edu	37	19	33444582	33444582	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33444582C>A	ENST00000305768.5	-	4	519	c.431G>T	c.(430-432)aGt>aTt	p.S144I	CEP89_ENST00000590597.2_Missense_Mutation_p.S144I	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	NA						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CTCCCGGGCACTGACATCCCC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													344	357	352			NA	NA	19		NA											NA				33444582		2203	4300	6503	SO:0001583	missense			AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289	84902	84902			25907	protein-coding gene	gene with protein product		615470	coiled-coil domain containing 123	CCDC123	NA	16395595	Standard	NM_032816	NM_032816	NA	Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.431G>T	19.37:g.33444582C>A	ENSP00000306105:p.Ser144Ile	NA	B9EGA6|Q8N5J8	37	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047520	0.36085	.	.	ENSG00000121289	ENST00000305768	T	0.31769	1.48	4.61	2.35	0.29111	.	1.440660	0.03939	N	0.286619	T	0.53546	0.1803	M	0.67953	2.075	0.09310	N	1	D;P;P	0.67145	0.996;0.911;0.813	D;P;B	0.65010	0.931;0.653;0.348	T	0.22277	-1.0221	10	0.56958	D	0.05	0.9008	9.8065	0.40797	0.3738:0.6262:0.0:0.0	.	115;144;144	Q8WUL5;Q96ST8-3;Q96ST8	.;.;CEP89_HUMAN	I	144	ENSP00000306105:S144I	ENSP00000306105:S144I	S	-	2	0	CEP89	38136422	0.009000	0.17119	0.000000	0.03702	0.033000	0.12548	1.234000	0.32660	0.420000	0.25954	0.591000	0.81541	AGT	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451300.2		-	ENST00000305768.5	Missense_Mutation	SNP	19 : 33444582 - 33444582 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2399	126
GRPEL1	80273	broad.mit.edu	37	4	7062915	7062915	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7062915C>T	ENST00000264954.4	-	4	492	c.328G>A	c.(328-330)Gac>Aac	p.D110N	GRPEL1_ENST00000514056.1_5'UTR	NM_025196.2	NP_079472.1	Q9HAV7	GRPE1_HUMAN	GrpE-like 1, mitochondrial (E. coli)	110					protein folding|protein import into mitochondrial matrix	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TCCAACAAGTCCTTGCAGAAG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	84	84			NA	NA	4		NA											NA				7062915		2203	4300	6503	SO:0001583	missense			AF070525	CCDS3396.1	4p16	2008-02-05			ENSG00000109519	ENSG00000109519	80273	80273			19696	protein-coding gene	gene with protein product		606173			NA	11311562	Standard	NM_025196	NM_025196	NA	Approved	HMGE, FLJ25609	uc003gjy.1	Q9HAV7	OTTHUMG00000090495	ENST00000264954.4:c.328G>A	4.37:g.7062915C>T	ENSP00000264954:p.Asp110Asn	NA	B2R783|Q549M6	37	CCDS3396.1	.	.	.	.	.	.	.	.	.	.	C	32	5.162717	0.94727	.	.	ENSG00000109519	ENST00000264954;ENST00000429301	.	.	.	5.53	5.53	0.82687	GrpE nucleotide exchange factor, coiled-coil (1);	0.000000	0.85682	D	0.000000	D	0.84061	0.5389	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85677	0.1298	9	0.66056	D	0.02	.	19.4473	0.94852	0.0:1.0:0.0:0.0	.	110	Q9HAV7	GRPE1_HUMAN	N	110;89	.	ENSP00000264954:D110N	D	-	1	0	GRPEL1	7113816	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	7.312000	0.78968	2.590000	0.87494	0.462000	0.41574	GAC	GRPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206983.2		-	ENST00000264954.4	Missense_Mutation	SNP	4 : 7062915 - 7062915 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	456	16
GAPT	202309	broad.mit.edu	37	5	57790515	57790515	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:57790515G>A	ENST00000396776.2	+	3	614	c.152G>A	c.(151-153)aGc>aAc	p.S51N	GAPT_ENST00000318469.2_Missense_Mutation_p.S51N	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN	GRB2-binding adaptor protein, transmembrane	51					B cell activation	integral to membrane|plasma membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						CAAAGGAGAAGCAGCAGGAGA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	65	65			NA	NA	5		NA											NA				57790515		2203	4300	6503	SO:0001583	missense			AK090960	CCDS3975.1	5q11.2	2011-11-01	2008-10-07	2008-10-07	ENSG00000175857	ENSG00000175857	202309	202309			26588	protein-coding gene	gene with protein product	GRB2-binding transmembrane adaptor		chromosome 5 open reading frame 29	C5orf29	NA		Standard	NM_152687	NM_152687	NA	Approved	FLJ33641	uc003jro.1	Q8N292	OTTHUMG00000131219	ENST00000396776.2:c.152G>A	5.37:g.57790515G>A	ENSP00000379997:p.Ser51Asn	NA		37	CCDS3975.1	.	.	.	.	.	.	.	.	.	.	G	7.803	0.713986	0.15306	.	.	ENSG00000175857	ENST00000502276;ENST00000396776;ENST00000511930;ENST00000318469	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	4.82	-0.16	0.13375	.	0.655330	0.14962	N	0.288322	T	0.30355	0.0762	L	0.29908	0.895	0.09310	N	1	B	0.12013	0.005	B	0.15052	0.012	T	0.18304	-1.0341	10	0.56958	D	0.05	-2.826	5.2222	0.15375	0.2925:0.1463:0.5612:0.0	.	51	Q8N292	GAPT_HUMAN	N	51	ENSP00000423113:S51N;ENSP00000379997:S51N;ENSP00000422645:S51N;ENSP00000323075:S51N	ENSP00000323075:S51N	S	+	2	0	GAPT	57826272	0.044000	0.20184	0.107000	0.21349	0.270000	0.26580	0.039000	0.13884	-0.152000	0.11156	0.591000	0.81541	AGC	GAPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253963.1		+	ENST00000396776.2	Missense_Mutation	SNP	5 : 57790515 - 57790515 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	292	51
ABHD17B	51104	broad.mit.edu	37	9	74489764	74489764	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:74489764C>T	ENST00000333421.6	-	2	344	c.233G>A	c.(232-234)aGa>aAa	p.R78K	ABHD17B_ENST00000377041.2_Missense_Mutation_p.R78K	NM_001025780.1	NP_001020951.1			abhydrolase domain containing 17B	NA											NA						ACAAGCAATTCTGTTGCCTTT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													202	178	187			NA	NA	9		NA											NA				74489764		2203	4300	6503	SO:0001583	missense			AF151825	CCDS35042.1, CCDS35043.1	9q21.2	2013-03-15	2013-03-15	2013-03-15	ENSG00000107362	ENSG00000107362	51104	51104		Abhydrolase domain containing	24278	protein-coding gene	gene with protein product			chromosome 9 open reading frame 77, family with sequence similarity 108, member B1	C9orf77, FAM108B1	NA	10810093	Standard	NM_016014	XM_006717134	NA	Approved	CGI-67	uc004ail.3	Q5VST6	OTTHUMG00000020001	ENST00000333421.6:c.233G>A	9.37:g.74489764C>T	ENSP00000330222:p.Arg78Lys	NA		37	CCDS35043.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036725	0.54896	.	.	ENSG00000107362	ENST00000377041;ENST00000333421	T;T	0.43688	0.94;0.94	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.43322	0.1242	L	0.52905	1.665	0.50813	D	0.999892	B;B	0.13145	0.004;0.007	B;B	0.14578	0.008;0.011	T	0.20907	-1.0261	10	0.21540	T	0.41	-9.0591	20.8794	0.99867	0.0:1.0:0.0:0.0	.	78;78	Q5VST6;Q5VST6-2	F108B_HUMAN;.	K	78	ENSP00000366240:R78K;ENSP00000330222:R78K	ENSP00000330222:R78K	R	-	2	0	FAM108B1	73679584	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.968000	0.70413	2.941000	0.99782	0.655000	0.94253	AGA	ABHD17B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052625.1		-	ENST00000333421.6	Missense_Mutation	SNP	9 : 74489764 - 74489764 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	709	140
DHRS4L2	317749	broad.mit.edu	37	14	24470603	24470603	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24470603C>A	ENST00000335125.6	+	6	668	c.542C>A	c.(541-543)cCt>cAt	p.P181H	DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000537912.1_Missense_Mutation_p.P106H|DHRS4L2_ENST00000534993.1_Intron|DHRS4L2_ENST00000397071.1_Intron|DHRS4L2_ENST00000545240.1_Intron|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.P179H|DHRS4L2_ENST00000558753.1_Missense_Mutation_p.P106H	NM_198083.3	NP_932349.2	D5KJA1	D5KJA1_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	119							binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		GGCTTCAGTCCTTACAATGTC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	117	111			NA	NA	14		NA											NA				24470603		2141	4300	6441	SO:0001583	missense				CCDS9606.2, CCDS73621.1	14q11.2	2011-09-14			ENSG00000187630	ENSG00000187630	317749	317749	1.1.-.-	Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1	19731	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 25C, member 3	615196			NA		Standard		NM_001193635	NA	Approved	SDR25C3	uc001wlf.3	Q6PKH6	OTTHUMG00000028778	ENST00000335125.6:c.542C>A	14.37:g.24470603C>A	ENSP00000334801:p.Pro181His	NA		37	CCDS9606.2	.	.	.	.	.	.	.	.	.	.	-	7.332	0.619136	0.14129	.	.	ENSG00000187630	ENST00000348916;ENST00000335125;ENST00000537912;ENST00000382755	D;T;D	0.87256	-2.23;0.69;-2.23	2.85	0.915	0.19366	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.82651	0.5083	N	0.10733	0.035	0.80722	D	1	D;D;D	0.89917	1.0;0.993;1.0	D;D;D	0.76575	0.98;0.948;0.988	T	0.79205	-0.1899	10	0.52906	T	0.07	.	6.6805	0.23117	0.0:0.7399:0.0:0.2601	.	106;179;179	F6TD35;D3YTE6;Q6PKH6	.;.;DR4L2_HUMAN	H	119;181;106;179	ENSP00000334801:P181H;ENSP00000439942:P106H;ENSP00000372203:P179H	ENSP00000334801:P181H	P	+	2	0	DHRS4L2	23540443	0.998000	0.40836	0.148000	0.22405	0.107000	0.19398	4.550000	0.60733	0.091000	0.17302	0.194000	0.17425	CCT	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071858.4		+	ENST00000335125.6	Missense_Mutation	SNP	14 : 24470603 - 24470603 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1044	143
PREX2	80243	broad.mit.edu	37	8	68965365	68965365	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68965365A>G	ENST00000288368.4	+	9	1254	c.977A>G	c.(976-978)aAt>aGt	p.N326S	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	326	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATTGTTGTTAATGGATGGAAG	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	94	98			NA	NA	8		NA											NA				68965365		2203	4300	6503	SO:0001583	missense			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889	80243	80243		Rho guanine nucleotide exchange factors	22950	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 129	612139	DEP domain containing 2	DEPDC2	NA	15304342, 15304343	Standard	NM_025170	NM_024870	NA	Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.977A>G	8.37:g.68965365A>G	ENSP00000288368:p.Asn326Ser	NA	Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	37	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.669176	0.88348	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	D	0.89552	-2.53	5.52	5.52	0.82312	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.95570	0.8560	M	0.91038	3.17	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.998;0.998	D	0.96430	0.9318	10	0.72032	D	0.01	.	15.6423	0.77016	1.0:0.0:0.0:0.0	.	326;326;326	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	S	326	ENSP00000288368:N326S	ENSP00000288368:N326S	N	+	2	0	PREX2	69127919	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.518000	0.81795	2.100000	0.63781	0.533000	0.62120	AAT	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378620.1		+	ENST00000288368.4	Missense_Mutation	SNP	8 : 68965365 - 68965365 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	362	71
CHD6	84181	broad.mit.edu	37	20	40050062	40050062	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40050062G>A	ENST00000373233.3	-	31	5390	c.5213C>T	c.(5212-5214)tCa>tTa	p.S1738L		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1738					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTTGCTTATTGAGATGGTAAT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	92	91			NA	NA	20		NA											NA				40050062		2203	4300	6503	SO:0001583	missense			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177	NA	84181			19057	protein-coding gene	gene with protein product					NA	11889561	Standard		NM_032221	NA	Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.5213C>T	20.37:g.40050062G>A	ENSP00000362330:p.Ser1738Leu	NA	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	37	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	4.040	0.005104	0.07866	.	.	ENSG00000124177	ENST00000373233	D	0.85773	-2.03	6.03	5.0	0.66597	.	0.290117	0.25352	N	0.031290	T	0.72244	0.3436	N	0.12746	0.255	0.22034	N	0.999407	B	0.02656	0.0	B	0.04013	0.001	T	0.60850	-0.7181	10	0.41790	T	0.15	-11.2026	11.7484	0.51835	0.1082:0.0:0.8918:0.0	.	1738	Q8TD26	CHD6_HUMAN	L	1738	ENSP00000362330:S1738L	ENSP00000362330:S1738L	S	-	2	0	CHD6	39483476	0.275000	0.24201	0.073000	0.20177	0.002000	0.02628	1.859000	0.39418	2.861000	0.98227	0.655000	0.94253	TCA	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079270.1		-	ENST00000373233.3	Missense_Mutation	SNP	20 : 40050062 - 40050062 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	548	27
PCNXL2	80003	broad.mit.edu	37	1	233122221	233122221	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233122221G>A	ENST00000258229.9	-	33	6091	c.5857C>T	c.(5857-5859)Ctg>Ttg	p.L1953L	PCNXL2_ENST00000344698.2_Silent_p.L605L	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	NA	Ser-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GATGAGCTCAGCATGGGCGGC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	26	24			NA	NA	1		NA											NA				233122221		2083	4203	6286	SO:0001819	synonymous_variant			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749	80003	80003			8736	protein-coding gene	gene with protein product			pecanex (Drosophila)-like 2		NA	12477932	Standard	NM_014801	NM_014801	NA	Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.5857C>T	1.37:g.233122221G>A		NA	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	37	CCDS44335.1																																																																																			PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092480.3		-	ENST00000258229.9	Silent	SNP	1 : 233122221 - 233122221 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	88	14
KCNS2	3788	broad.mit.edu	37	8	99440776	99440776	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99440776G>A	ENST00000287042.4	+	2	919	c.569G>A	c.(568-570)aGc>aAc	p.S190N	KCNS2_ENST00000521839.1_Missense_Mutation_p.S190N	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	190						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			AGGGTCTTCAGCATCCTGTCC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(138;844 2489 9202 24627)							NA				0													62	60	61			NA	NA	8		NA											NA				99440776		2203	4300	6503	SO:0001583	missense			AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486	3788	3788		Potassium channels, Voltage-gated ion channels / Potassium channels	6301	protein-coding gene	gene with protein product		602906			NA	9305895, 16382104	Standard	NM_020697	NM_020697	NA	Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.569G>A	8.37:g.99440776G>A	ENSP00000287042:p.Ser190Asn	NA	A8KAN1	37	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300239	0.60195	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	D;D	0.97303	-4.33;-4.33	5.79	5.79	0.91817	.	0.041854	0.85682	D	0.000000	D	0.95500	0.8538	M	0.64170	1.965	0.39189	D	0.962921	B	0.33694	0.421	B	0.29524	0.103	D	0.95547	0.8617	10	0.87932	D	0	.	15.5109	0.75782	0.0:0.1377:0.8623:0.0	.	190	Q9ULS6	KCNS2_HUMAN	N	190	ENSP00000287042:S190N;ENSP00000430712:S190N	ENSP00000287042:S190N	S	+	2	0	KCNS2	99509952	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.876000	0.87215	2.735000	0.93741	0.563000	0.77884	AGC	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000103134.1		+	ENST00000287042.4	Missense_Mutation	SNP	8 : 99440776 - 99440776 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	384	68
FAM9B	171483	broad.mit.edu	37	X	9001030	9001030	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:9001030A>C	ENST00000362066.3	-	1	321	c.133T>G	c.(133-135)Ttt>Gtt	p.F45V	FAM9B_ENST00000327220.5_5'UTR|FAM9B_ENST00000428477.1_5'UTR			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	0						nucleus				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				GCCGCCATAAATTGAGCCTCC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	69	79			NA	NA	X		NA											NA				9001030		2203	4300	6503	SO:0001583	missense				CCDS14132.1	Xp22.31	2014-02-17			ENSG00000177138	ENSG00000177138	171483	171483			18404	protein-coding gene	gene with protein product	testis expressed 39B	300478			NA	12213195, 21085121, 21998597, 22936694	Standard	NM_205849	XM_005274456	NA	Approved	TEX39B	uc011mhu.2	Q8IZU0	OTTHUMG00000021114	ENST00000362066.3:c.133T>G	X.37:g.9001030A>C	ENSP00000354770:p.Phe45Val	NA	Q0IJ68	37		.	.	.	.	.	.	.	.	.	.	A	0.003	-2.544660	0.00142	.	.	ENSG00000177138	ENST00000362066	.	.	.	0.235	-0.47	0.12131	.	.	.	.	.	T	0.15089	0.0364	.	.	.	0.09310	N	0.999999	B	0.23377	0.084	B	0.13407	0.009	T	0.27606	-1.0069	6	0.13108	T	0.6	.	.	.	.	.	45	Q8N7Z8	.	V	45	.	ENSP00000354770:F45V	F	-	1	0	FAM9B	8961030	0.001000	0.12720	0.030000	0.17652	0.031000	0.12232	-1.743000	0.01834	-0.979000	0.03529	-1.005000	0.02491	TTT	FAM9B-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000055703.1		-	ENST00000362066.3	Missense_Mutation	SNP	X : 9001030 - 9001030 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	224	66
ZBTB40	9923	broad.mit.edu	37	1	22846692	22846692	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22846692C>T	ENST00000375647.4	+	14	3179	c.2972C>T	c.(2971-2973)tCc>tTc	p.S991F	ZBTB40_ENST00000404138.1_Missense_Mutation_p.S991F|ZBTB40_ENST00000374651.4_Missense_Mutation_p.S879F	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	991					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AGTGCCCCGTCCATGCTGGAG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	92	100			NA	NA	1		NA											NA				22846692		2203	4300	6503	SO:0001583	missense			AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677	9923	9923		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	29045	protein-coding gene	gene with protein product		612106			NA		Standard	NM_014870	NM_014870	NA	Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.2972C>T	1.37:g.22846692C>T	ENSP00000364798:p.Ser991Phe	NA	O75066|Q5TFU5|Q8N1R1	37	CCDS224.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801189	0.70567	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000374651	T;T;T	0.07567	3.18;3.18;3.18	5.79	5.79	0.91817	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.52532	D	0.000062	T	0.31513	0.0799	M	0.74546	2.27	0.51482	D	0.999926	D;D	0.76494	0.999;0.999	D;D	0.79108	0.987;0.992	T	0.00712	-1.1598	10	0.72032	D	0.01	-20.6777	18.585	0.91185	0.0:1.0:0.0:0.0	.	879;991	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	F	991;991;879	ENSP00000384527:S991F;ENSP00000364798:S991F;ENSP00000363782:S879F	ENSP00000363782:S879F	S	+	2	0	ZBTB40	22719279	1.000000	0.71417	0.997000	0.53966	0.935000	0.57460	5.684000	0.68197	2.735000	0.93741	0.561000	0.74099	TCC	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000008094.1		+	ENST00000375647.4	Missense_Mutation	SNP	1 : 22846692 - 22846692 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	443	35
FLRT3	23767	broad.mit.edu	37	20	14307515	14307515	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:14307515T>G	ENST00000378053.3	-	2	894	c.638A>C	c.(637-639)aAt>aCt	p.N213T	MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.N213T	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	213					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TAAACCATGATTGTTCAACAG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	65	66			NA	NA	20		NA											NA				14307515		2203	4300	6503	SO:0001583	missense			AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848	23767	23767		Fibronectin type III domain containing	3762	protein-coding gene	gene with protein product		604808			NA	10644439	Standard	NM_013281	NM_198391	NA	Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.638A>C	20.37:g.14307515T>G	ENSP00000367292:p.Asn213Thr	NA	D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	37	CCDS13121.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.175522	0.57692	.	.	ENSG00000125848	ENST00000378053;ENST00000341420;ENST00000541882	T;T	0.02301	4.35;4.35	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.05318	0.0141	N	0.10874	0.06	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.62506	-0.6840	10	0.44086	T	0.13	-15.4867	16.8061	0.85666	0.0:0.0:0.0:1.0	.	213	Q9NZU0	FLRT3_HUMAN	T	213	ENSP00000367292:N213T;ENSP00000339912:N213T	ENSP00000339912:N213T	N	-	2	0	FLRT3	14255515	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	8.040000	0.89188	2.367000	0.80283	0.528000	0.53228	AAT	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078075.1		-	ENST00000378053.3	Missense_Mutation	SNP	20 : 14307515 - 14307515 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	364	67
PAPLN	89932	broad.mit.edu	37	14	73721304	73721304	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73721304G>A	ENST00000340738.5	+	12	1407	c.1305G>A	c.(1303-1305)gcG>gcA	p.A435A	PAPLN_ENST00000427855.1_Silent_p.A462A|PAPLN_ENST00000555445.1_Silent_p.A462A|PAPLN_ENST00000554301.1_Silent_p.A462A|PAPLN_ENST00000381166.3_Silent_p.A462A	NM_173462.3	NP_775733.3	O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	462	TSP type-1 4.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		ATACCGCAGCGTGCTCCTTGG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													177	166	170			NA	NA	14		NA											NA				73721304		2203	4300	6503	SO:0001819	synonymous_variant			BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767	89932	89932		Immunoglobulin superfamily / I-set domain containing	19262	protein-coding gene	gene with protein product					NA	11076767, 19734141	Standard	NM_173462	NM_173462	NA	Approved	MGC50452	uc001xnw.4	O95428		ENST00000340738.5:c.1305G>A	14.37:g.73721304G>A		NA	B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	37	CCDS32114.1																																																																																			PAPLN-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413179.1		+	ENST00000340738.5	Silent	SNP	14 : 73721304 - 73721304 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	833	145
CYP2A7	1549	broad.mit.edu	37	19	41388043	41388043	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41388043G>A	ENST00000301146.4	-	1	614	c.73C>T	c.(73-75)Cag>Tag	p.Q25*	CYP2A7_ENST00000291764.3_Nonsense_Mutation_p.Q25*|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	25						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TTCCTCTGCTGCCAGACAGAC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	74	79			NA	NA	19		NA											NA				41388043		2203	4300	6503	SO:0001587	stop_gained			NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077	1549	1549		Cytochrome P450s	2611	protein-coding gene	gene with protein product		608054	cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7		NA	7668294, 15128046	Standard	NM_030589	NM_030589	NA	Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.73C>T	19.37:g.41388043G>A	ENSP00000301146:p.Gln25*	NA	Q13121	37	CCDS12569.1	.	.	.	.	.	.	.	.	.	.	G	36	5.970539	0.97156	.	.	ENSG00000198077	ENST00000301146;ENST00000291764	.	.	.	2.24	-3.48	0.04739	.	1.246510	0.05976	U	0.643226	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.3712	0.11249	0.1619:0.0:0.3802:0.4578	.	.	.	.	X	25	.	ENSP00000291764:Q25X	Q	-	1	0	CYP2A7	46079883	0.000000	0.05858	0.002000	0.10522	0.198000	0.23893	-0.902000	0.04088	-0.457000	0.07033	0.184000	0.17185	CAG	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463269.2		-	ENST00000301146.4	Nonsense_Mutation	SNP	19 : 41388043 - 41388043 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	301	54
FANCG	2189	broad.mit.edu	37	9	35075020	35075020	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35075020C>T	ENST00000378643.3	-	12	2031	c.1540G>A	c.(1540-1542)Gca>Aca	p.A514T	FANCG_ENST00000476212.1_Intron	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	514					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGGGCGGCTGCCCGAAGCTGC	0.567		NA	Mis, N, F, S			AML, leukemia		Involved in tolerance or repair of DNA crosslinks						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Fanconi anaemia G	9	9p13	2189	Fanconi anemia, complementation group G		L	0													92	86	88			NA	NA	9		NA											NA				35075020		2203	4300	6503	SO:0001583	missense			AJ007669	CCDS6574.1	9p13	2014-09-17			ENSG00000221829	ENSG00000221829	2189	2189		Fanconi anemia, complementation groups	3588	protein-coding gene	gene with protein product	DNA repair protein XRCC9, X-ray repair, complementing defective, in Chinese hamster, 9, X-ray repair complementing defective repair in Chinese hamster cells 9	602956		XRCC9	NA	9256465, 9382107	Standard	NM_004629	NM_004629	NA	Approved	FAG	uc003zwb.1	O15287	OTTHUMG00000019850	ENST00000378643.3:c.1540G>A	9.37:g.35075020C>T	ENSP00000367910:p.Ala514Thr	NA		37	CCDS6574.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.257020	0.39896	.	.	ENSG00000221829	ENST00000378643	T	0.55760	0.5	5.7	1.54	0.23209	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.32941	0.0846	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.18713	-1.0328	9	0.29301	T	0.29	0.5318	4.7872	0.13230	0.4716:0.354:0.0:0.1744	.	514	O15287	FANCG_HUMAN	T	514	ENSP00000367910:A514T	ENSP00000367910:A514T	A	-	1	0	FANCG	35065020	0.001000	0.12720	0.203000	0.23512	0.973000	0.67179	0.366000	0.20365	0.004000	0.14682	-0.181000	0.13052	GCA	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052269.1		-	ENST00000378643.3	Missense_Mutation	SNP	9 : 35075020 - 35075020 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	381	50
KDM6B	23135	broad.mit.edu	37	17	7751581	7751581	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7751581G>A	ENST00000254846.5	+	11	2364	c.1975G>A	c.(1975-1977)Ggg>Agg	p.G659R	KDM6B_ENST00000448097.2_Missense_Mutation_p.G659R	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	659	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TGTGCCGCCCGGGGTTGGGGA	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	32	30			NA	NA	17		NA											NA				7751581		2072	4103	6175	SO:0001583	missense			AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510	23135	23135		Chromatin-modifying enzymes / K-demethylases	29012	protein-coding gene	gene with protein product		611577	jumonji domain containing 3, jumonji domain containing 3, histone lysine demethylase	JMJD3	NA	10662545, 9205841	Standard	XM_043272	NM_001080424	NA	Approved	KIAA0346	uc002giw.1	O15054		ENST00000254846.5:c.1975G>A	17.37:g.7751581G>A	ENSP00000254846:p.Gly659Arg	NA	C9IZ40|Q96G33	37	CCDS32552.1	.	.	.	.	.	.	.	.	.	.	G	1.555	-0.538130	0.04082	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.07216	3.21;3.21	4.52	-3.84	0.04256	.	1.227230	0.05789	N	0.609988	T	0.05410	0.0143	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43589	-0.9382	10	0.28530	T	0.3	0.4754	11.6493	0.51279	0.3807:0.0:0.6193:0.0	.	659	O15054-1	.	R	659	ENSP00000254846:G659R;ENSP00000412513:G659R	ENSP00000254846:G659R	G	+	1	0	KDM6B	7692306	0.003000	0.15002	0.056000	0.19401	0.038000	0.13279	-0.068000	0.11561	-0.664000	0.05324	-2.436000	0.00213	GGG	KDM6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000440247.1		+	ENST00000254846.5	Missense_Mutation	SNP	17 : 7751581 - 7751581 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	517	107
SYT11	23208	broad.mit.edu	37	1	155851245	155851245	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155851245C>A	ENST00000368324.4	+	4	1495	c.1242C>A	c.(1240-1242)gtC>gtA	p.V414V	SYT11_ENST00000539162.1_Silent_p.V107V	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	414						cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GGAGAGAGGTCTGCGAGAGCC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	68	66			NA	NA	1		NA											NA				155851245		2203	4300	6503	SO:0001819	synonymous_variant			D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718	23208	23208		Synaptotagmins	19239	protein-coding gene	gene with protein product		608741			NA	11543631	Standard	NM_152280	NM_152280	NA	Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.1242C>A	1.37:g.155851245C>A		NA	Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	37	CCDS1122.1																																																																																			SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039597.1		+	ENST00000368324.4	Silent	SNP	1 : 155851245 - 155851245 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	751	191
TLDC1	57707	broad.mit.edu	37	16	84522931	84522931	+	Missense_Mutation	SNP	C	C	T	rs148973129	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84522931C>T	ENST00000343629.6	-	4	664	c.482G>A	c.(481-483)cGg>cAg	p.R161Q	TLDC1_ENST00000535580.1_Missense_Mutation_p.R134Q	NM_020947.3	NP_065998.3			TBC/LysM-associated domain containing 1	NA											NA						CACCTGCACCCGGGGGTTGGG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	GLN/ARG	2,4398	4.2+/-10.8	0,2,2198	47	46	46		482	4.1	0	16	dbSNP_134	46	0,8600		0,0,4300	no	missense	KIAA1609	NM_020947.3	43	0,2,6498	TT,TC,CC	NA	0.0,0.0455,0.0154	probably-damaging	161/457	84522931	2,12998	2200	4300	6500	SO:0001583	missense			AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950	57707	57707			29325	protein-coding gene	gene with protein product	TLD domain containing 1		KIAA1609	KIAA1609	NA	10997877	Standard	NM_020947	NM_020947	NA	Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.482G>A	16.37:g.84522931C>T	ENSP00000343635:p.Arg161Gln	NA		37	CCDS32498.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727535	0.48833	4.55E-4	0.0	ENSG00000140950	ENST00000343629;ENST00000535580	T;T	0.09538	3.15;2.97	5.04	4.08	0.47627	.	0.325911	0.35207	N	0.003363	T	0.17152	0.0412	M	0.63428	1.95	0.09310	N	1	D;D	0.67145	0.965;0.996	B;P	0.47981	0.3;0.563	T	0.10965	-1.0607	10	0.27082	T	0.32	-11.5717	14.6301	0.68650	0.0:0.8536:0.1464:0.0	.	134;161	F5GWS3;Q6P9B6	.;K1609_HUMAN	Q	161;134	ENSP00000343635:R161Q;ENSP00000441997:R134Q	ENSP00000343635:R161Q	R	-	2	0	KIAA1609	83080432	0.846000	0.29590	0.011000	0.14972	0.112000	0.19704	6.819000	0.75262	1.100000	0.41517	0.591000	0.81541	CGG	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000433421.1		-	ENST00000343629.6	Missense_Mutation	SNP	16 : 84522931 - 84522931 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	92
RALBP1	10928	broad.mit.edu	37	18	9535870	9535870	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9535870C>T	ENST00000019317.4	+	10	2126	c.1903C>T	c.(1903-1905)Cca>Tca	p.P635S	RALBP1_ENST00000383432.3_Missense_Mutation_p.P635S			Q15311	RBP1_HUMAN	ralA binding protein 1	635					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						TAAAGAGCAGCCAAAGGCAGG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	23	22			NA	NA	18		NA											NA				9535870		2199	4296	6495	SO:0001583	missense			L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797	10928	10928			9841	protein-coding gene	gene with protein product		605801			NA	7673236	Standard	NM_006788	NM_006788	NA	Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.1903C>T	18.37:g.9535870C>T	ENSP00000019317:p.Pro635Ser	NA	D3DUI0	37	CCDS11845.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.489420	0.64074	.	.	ENSG00000017797	ENST00000019317;ENST00000383432	T;T	0.09445	2.98;2.98	4.0	4.0	0.46444	.	0.314786	0.27922	N	0.017318	T	0.12475	0.0303	L	0.43152	1.355	0.46749	D	0.999188	B	0.23058	0.079	B	0.21917	0.037	T	0.07731	-1.0757	10	0.59425	D	0.04	-9.5647	16.4737	0.84125	0.0:1.0:0.0:0.0	.	635	Q15311	RBP1_HUMAN	S	635	ENSP00000019317:P635S;ENSP00000372924:P635S	ENSP00000019317:P635S	P	+	1	0	RALBP1	9525870	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.200000	0.58433	1.940000	0.56252	0.561000	0.74099	CCA	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254479.1		+	ENST00000019317.4	Missense_Mutation	SNP	18 : 9535870 - 9535870 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	178	38
PRKAA1	5562	broad.mit.edu	37	5	40769539	40769539	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:40769539G>A	ENST00000296800.4	-	5	559	c.548C>T	c.(547-549)gCa>gTa	p.A183V	PRKAA1_ENST00000354209.3_Missense_Mutation_p.A207V|PRKAA1_ENST00000397128.2_Missense_Mutation_p.A192V			Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	192	Protein kinase.				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TACTTCTGGTGCAGCATAGTT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	154	157			NA	NA	5		NA											NA				40769539		1855	4116	5971	SO:0001583	missense				CCDS3932.2, CCDS3933.2	5p13.1	2012-10-03			ENSG00000132356	ENSG00000132356	5562	5562			9376	protein-coding gene	gene with protein product	AMPK, alpha, 1	602739			NA	8557660	Standard	NM_006251	XM_006714481	NA	Approved	AMPKa1	uc003jmb.3	Q13131	OTTHUMG00000162269	ENST00000296800.4:c.548C>T	5.37:g.40769539G>A	ENSP00000296800:p.Ala183Val	NA	A8MTQ6|B2R7E1|O00286|Q5D0E1|Q86VS1|Q9UNQ4	37		.	.	.	.	.	.	.	.	.	.	G	26.9	4.785121	0.90282	.	.	ENSG00000132356	ENST00000397128;ENST00000354209;ENST00000296800	T;T;T	0.53423	0.62;0.62;0.62	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82646	0.5082	H	0.99182	4.46	0.80722	D	1	D;D	0.76494	0.999;0.984	D;D	0.64144	0.922;0.919	D	0.89003	0.3423	10	0.87932	D	0	-19.9302	20.8794	0.99867	0.0:0.0:1.0:0.0	.	192;207	Q13131;Q13131-2	AAPK1_HUMAN;.	V	192;207;183	ENSP00000380317:A192V;ENSP00000346148:A207V;ENSP00000296800:A183V	ENSP00000296800:A183V	A	-	2	0	AC008810.1	40805296	1.000000	0.71417	0.978000	0.43139	0.997000	0.91878	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	GCA	PRKAA1-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000367373.1		-	ENST00000296800.4	Missense_Mutation	SNP	5 : 40769539 - 40769539 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	569	25
GAS2L3	283431	broad.mit.edu	37	12	101017454	101017454	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101017454A>C	ENST00000537247.1	+	10	1513	c.559A>C	c.(559-561)Aaa>Caa	p.K187Q	GAS2L3_ENST00000266754.5_Missense_Mutation_p.K291Q|GAS2L3_ENST00000539410.1_Missense_Mutation_p.K291Q|GAS2L3_ENST00000547754.1_Missense_Mutation_p.K291Q			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	291					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						ATTAGAACAAAAAATTTTAGC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	82	81			NA	NA	12		NA											NA				101017454		2203	4300	6503	SO:0001583	missense			AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354	283431	283431			27475	protein-coding gene	gene with protein product					NA		Standard	NM_174942	NM_174942	NA	Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000537247.1:c.559A>C	12.37:g.101017454A>C	ENSP00000442406:p.Lys187Gln	NA	B2RCN2	37		.	.	.	.	.	.	.	.	.	.	A	25.1	4.602846	0.87157	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.26660	1.72;1.72;1.77;1.72	5.47	5.47	0.80525	Growth-arrest-specific protein 2 domain (2);	0.116335	0.64402	D	0.000017	T	0.50411	0.1614	M	0.69823	2.125	0.45515	D	0.998478	D	0.89917	1.0	D	0.91635	0.999	T	0.48258	-0.9051	10	0.41790	T	0.15	-19.3779	15.5533	0.76170	1.0:0.0:0.0:0.0	.	291	Q86XJ1	GA2L3_HUMAN	Q	291;291;187;291	ENSP00000266754:K291Q;ENSP00000448955:K291Q;ENSP00000442406:K187Q;ENSP00000439672:K291Q	ENSP00000266754:K291Q	K	+	1	0	GAS2L3	99541585	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.886000	0.92447	2.087000	0.62958	0.533000	0.62120	AAA	GAS2L3-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000409147.1		+	ENST00000537247.1	Missense_Mutation	SNP	12 : 101017454 - 101017454 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	555	112
HAUS5	23354	broad.mit.edu	37	19	36113851	36113851	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36113851C>T	ENST00000203166.5	+	19	1883	c.1858C>T	c.(1858-1860)Cgc>Tgc	p.R620C	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	620					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						GTGGCGGCTGCGCTGGGTTCA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG	1,3711		0,1,1855	26	29	28		1858	5.1	1	19		28	0,8152		0,0,4076	no	missense	HAUS5	NM_015302.1	180	0,1,5931	TT,TC,CC	NA	0.0,0.0269,0.0084	probably-damaging	620/634	36113851	1,11863	1856	4076	5932	SO:0001583	missense			AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115	23354	23354		HAUS augmin-like complex subunits	29130	protein-coding gene	gene with protein product		613432	KIAA0841	KIAA0841	NA	10048485, 19427217	Standard		NM_015302	NA	Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.1858C>T	19.37:g.36113851C>T	ENSP00000439056:p.Arg620Cys	NA	B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	37	CCDS42550.1	.	.	.	.	.	.	.	.	.	.	c	16.10	3.027513	0.54683	2.69E-4	0.0	ENSG00000249115	ENST00000203166	T	0.38560	1.13	5.09	5.09	0.68999	.	0.058422	0.64402	D	0.000005	T	0.61602	0.2360	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.67382	0.951	T	0.64732	-0.6338	10	0.87932	D	0	-17.7701	13.8634	0.63574	0.0:1.0:0.0:0.0	.	620	O94927	HAUS5_HUMAN	C	620	ENSP00000439056:R620C	ENSP00000439056:R620C	R	+	1	0	HAUS5	40805691	1.000000	0.71417	0.995000	0.50966	0.069000	0.16628	2.329000	0.43876	2.659000	0.90383	0.596000	0.82720	CGC	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459055.2		+	ENST00000203166.5	Missense_Mutation	SNP	19 : 36113851 - 36113851 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	482	84
XRCC5	7520	broad.mit.edu	37	2	217002842	217002842	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217002842G>A	ENST00000392133.3	+	14	1743	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	XRCC5_ENST00000471649.1_3'UTR|XRCC5_ENST00000392132.2_Missense_Mutation_p.E428K			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	428	Ku.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		GCCTTTCATGGAAGACTTGCG	0.363		NA						Non-homologous end-joining						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	105	106			NA	NA	2		NA											NA				217002842		2203	4300	6503	SO:0001583	missense			AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246	7520	7520			12833	protein-coding gene	gene with protein product	Ku autoantigen, 80kDa	194364	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)		NA	9636207, 9214634	Standard	NM_021141	NM_021141	NA	Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.1282G>A	2.37:g.217002842G>A	ENSP00000375978:p.Glu428Lys	NA	A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	37	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	G	36	5.668745	0.96754	.	.	ENSG00000079246	ENST00000392133;ENST00000392132	T;T	0.46819	0.86;0.86	5.55	5.55	0.83447	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);DNA helicase, ATP-dependent, Ku type (2);	0.000000	0.85682	D	0.000000	T	0.75759	0.3893	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80696	-0.1267	10	0.72032	D	0.01	.	18.51	0.90913	0.0:0.0:1.0:0.0	.	428	P13010	XRCC5_HUMAN	K	428	ENSP00000375978:E428K;ENSP00000375977:E428K	ENSP00000375977:E428K	E	+	1	0	XRCC5	216711087	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.333000	0.96459	2.606000	0.88127	0.655000	0.94253	GAA	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256675.3		+	ENST00000392133.3	Missense_Mutation	SNP	2 : 217002842 - 217002842 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	402	60
RANGAP1	5905	broad.mit.edu	37	22	41645753	41645753	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41645753C>T	ENST00000455915.2	-	13	3021	c.1552G>A	c.(1552-1554)Gtg>Atg	p.V518M	RANGAP1_ENST00000407260.4_Missense_Mutation_p.V463M|RANGAP1_ENST00000356244.3_Missense_Mutation_p.V518M|RANGAP1_ENST00000405486.1_Missense_Mutation_p.V518M			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	518					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCCATGTGCACGAGCAGCCTG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	119	132			NA	NA	22		NA											NA				41645753		2203	4300	6503	SO:0001583	missense			X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401	5905	5905			9854	protein-coding gene	gene with protein product		602362	segregation distorter homolog (Drosophila)	SD	NA	7878053	Standard	NM_002883	NM_002883	NA	Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1552G>A	22.37:g.41645753C>T	ENSP00000401470:p.Val518Met	NA	Q96JJ2	37	CCDS14012.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673521	0.47781	.	.	ENSG00000100401	ENST00000405486;ENST00000356244;ENST00000405383;ENST00000455915;ENST00000407260	T;T;T;T	0.56611	0.45;0.45;0.45;0.85	5.8	-0.104	0.13605	Ran-GTPase activating protein 1, C-terminal (3);	0.458253	0.25241	N	0.032087	T	0.63189	0.2490	M	0.62723	1.935	0.21147	N	0.999778	D;D	0.76494	0.999;0.995	P;D	0.63488	0.839;0.915	T	0.58912	-0.7552	10	0.87932	D	0	-8.7803	11.557	0.50755	0.0:0.4446:0.0:0.5554	.	463;518	F8W7I9;P46060	.;RAGP1_HUMAN	M	518;518;518;518;463	ENSP00000385866:V518M;ENSP00000348577:V518M;ENSP00000401470:V518M;ENSP00000385354:V463M	ENSP00000348577:V518M	V	-	1	0	RANGAP1	39975699	0.978000	0.34361	0.729000	0.30791	0.083000	0.17756	0.350000	0.20079	-0.048000	0.13401	0.655000	0.94253	GTG	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320606.1		-	ENST00000455915.2	Missense_Mutation	SNP	22 : 41645753 - 41645753 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	336	66
DST	667	broad.mit.edu	37	6	56328406	56328406	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56328406G>A	ENST00000361203.3	-	96	21963	c.21956C>T	c.(21955-21957)gCg>gTg	p.A7319V	DST_ENST00000421834.2_Missense_Mutation_p.A5315V|DST_ENST00000446842.2_Missense_Mutation_p.A7104V|DST_ENST00000370769.4_Missense_Mutation_p.A7430V|DST_ENST00000370754.5_Missense_Mutation_p.A7608V|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.A5233V|DST_ENST00000244364.6_Missense_Mutation_p.A4992V			Q03001	DYST_HUMAN	dystonin	7428	GAR.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGCCGCCTGCGCAGCCTGACT	0.587		NA											G	4	0.0018	NA	NA	2184	NA	0.999	,	,	NA	3e-04	0.01	NA	NA	0.0022	0.8125	EXOME	NA	NA	7e-04	SNP								NA				0								G	VAL/ALA	1,4025		0,1,2012	55	64	61		14975	0.6	0	6		61	13,8311		0,13,4149	yes	missense	DST	NM_015548.4	64	0,14,6161	AA,AG,GG	NA	0.1562,0.0248,0.1134	benign	4992/5172	56328406	14,12336	2013	4162	6175	SO:0001583	missense			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914	667	667		EF-hand domain containing	1090	protein-coding gene	gene with protein product		113810	bullous pemphigoid antigen 1, 230/240kDa	BPAG1	NA	2461961, 2276744	Standard	NM_001723	NM_001144770	NA	Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.21956C>T	6.37:g.56328406G>A	ENSP00000354508:p.Ala7319Val	NA	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	37		4|4	0.0018315018315018315|0.0018315018315018315	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	4|4	0.005277044854881266|0.005277044854881266	G|G	2.123|2.123	-0.400962|-0.400962	0.04865|0.04865	2.48E-4|2.48E-4	0.001562|0.001562	ENSG00000151914|ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203|ENST00000523292	T;T;T;T;T;T;T|.	0.62105|.	1.13;0.05;0.05;0.13;1.01;0.1;0.06|.	5.73|5.73	0.582|0.582	0.17412|0.17412	.|.	0.489613|.	0.18730|.	N|.	0.132777|.	T|T	0.10465|0.10465	0.0256|0.0256	N|N	0.03608|0.03608	-0.345|-0.345	0.23589|.	N|.	0.997341|.	B;B;B;B;B;B;B;B|.	0.16166|.	0.0;0.01;0.002;0.0;0.003;0.002;0.0;0.016|.	B;B;B;B;B;B;B;B|.	0.13407|.	0.001;0.0;0.001;0.001;0.009;0.001;0.002;0.003|.	T|T	0.23368|0.23368	-1.0190|-1.0190	9|4	0.23891|.	T|.	0.37|.	.|.	13.3256|13.3256	0.60457|0.60457	0.2087:0.2518:0.5395:0.0|0.2087:0.2518:0.5395:0.0	.|.	5315;7430;7608;7428;4992;116;79;5233|.	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8;Q9BSP9;Q86T18;E7ERU0|.	.;.;.;DYST_HUMAN;.;.;.;.|.	V|C	4992;7608;7430;5315;7104;5233;7319|117	ENSP00000244364:A4992V;ENSP00000359790:A7608V;ENSP00000359805:A7430V;ENSP00000400883:A5315V;ENSP00000393645:A7104V;ENSP00000359824:A5233V;ENSP00000354508:A7319V|.	ENSP00000244364:A4992V|.	A|R	-|-	2|1	0|0	DST|DST	56436365|56436365	0.014000|0.014000	0.17966|0.17966	0.002000|0.002000	0.10522|0.10522	0.104000|0.104000	0.19210|0.19210	0.391000|0.391000	0.20784|0.20784	-0.186000|-0.186000	0.10533|0.10533	-0.165000|-0.165000	0.13383|0.13383	GCG|CGC	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000041021.3		-	ENST00000361203.3	Missense_Mutation	SNP	6 : 56328406 - 56328406 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	477	86
ABCF3	55324	broad.mit.edu	37	3	183911153	183911153	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183911153C>T	ENST00000429586.2	+	20	2069	c.1884C>T	c.(1882-1884)tgC>tgT	p.C628C	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Splice_Site_p.C622C	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	628	ABC transporter 2.						ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCCTTCCAGCCCCAACTTCT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	120	122			NA	NA	3		NA											NA				183911153		2203	4300	6503	SO:0001630	splice_region_variant			U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204	55324	55324		ATP binding cassette transporters / subfamily F	72	protein-coding gene	gene with protein product					NA	8894702	Standard	NM_018358	NM_018358	NA	Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.1884-1C>T	3.37:g.183911153C>T		NA	A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	37	CCDS3254.1																																																																																			ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346047.1	Silent	+	ENST00000429586.2	Splice_Site	SNP	3 : 183911153 - 183911153 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	692	100
CCDC42	146849	broad.mit.edu	37	17	8633478	8633478	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8633478T>G	ENST00000293845.3	-	7	1147	c.921A>C	c.(919-921)aaA>aaC	p.K307N	CCDC42_ENST00000539522.2_Missense_Mutation_p.K233N	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	307										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						GTTCCTTCTTTTTCACCTCTG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	100	107			NA	NA	17		NA											NA				8633478		2203	4300	6503	SO:0001583	missense			AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973	146849	146849			26528	protein-coding gene	gene with protein product					NA		Standard	NM_144681	NM_144681	NA	Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.921A>C	17.37:g.8633478T>G	ENSP00000293845:p.Lys307Asn	NA	Q8N6Q0	37	CCDS11145.1	.	.	.	.	.	.	.	.	.	.	T	14.55	2.568810	0.45798	.	.	ENSG00000161973	ENST00000293845;ENST00000539522	T;T	0.30981	1.68;1.51	5.29	3.31	0.37934	.	0.088480	0.48767	D	0.000163	T	0.26085	0.0636	L	0.52573	1.65	0.29275	N	0.87043	P	0.36282	0.546	B	0.35550	0.205	T	0.16158	-1.0412	10	0.54805	T	0.06	-43.6762	8.4957	0.33127	0.0:0.8159:0.0:0.1841	.	307	Q96M95	CCD42_HUMAN	N	307;233	ENSP00000293845:K307N;ENSP00000444359:K233N	ENSP00000293845:K307N	K	-	3	2	CCDC42	8574203	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	0.435000	0.21510	0.797000	0.33971	-0.242000	0.12053	AAA	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442491.1		-	ENST00000293845.3	Missense_Mutation	SNP	17 : 8633478 - 8633478 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	275	63
CHD1	1105	broad.mit.edu	37	5	98209328	98209328	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:98209328T>C	ENST00000284049.3	-	25	3689	c.3540A>G	c.(3538-3540)ttA>ttG	p.L1180L		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1180					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AACTATCCTTTAATGCTTTAA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	135	139			NA	NA	5		NA											NA				98209328		2203	4300	6503	SO:0001819	synonymous_variant			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922	1105	1105			1915	protein-coding gene	gene with protein product		602118			NA	8460153, 9326634	Standard	NM_001270	XM_005271866	NA	Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.3540A>G	5.37:g.98209328T>C		NA	Q17RZ3	37	CCDS34204.1																																																																																			CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370295.1		-	ENST00000284049.3	Silent	SNP	5 : 98209328 - 98209328 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	286	58
USP28	57646	broad.mit.edu	37	11	113702669	113702669	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113702669T>C	ENST00000003302.4	-	8	874	c.806A>G	c.(805-807)gAc>gGc	p.D269G	USP28_ENST00000545540.1_Missense_Mutation_p.D144G|USP28_ENST00000542033.1_Intron|USP28_ENST00000260188.5_Missense_Mutation_p.D269G|USP28_ENST00000537706.1_Missense_Mutation_p.D269G	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	269					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CTGGAATGCGTCCTCTAGCCA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)							NA				0													112	92	99			NA	NA	11		NA											NA				113702669		2201	4296	6497	SO:0001583	missense			AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028	57646	57646		Ubiquitin-specific peptidases	12625	protein-coding gene	gene with protein product		610748	ubiquitin specific protease 28		NA	12838346, 11597335	Standard		XM_005271630	NA	Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.806A>G	11.37:g.113702669T>C	ENSP00000003302:p.Asp269Gly	NA	B0YJC0|B0YJC1|Q9P213	37	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.741660	0.89573	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000545540;ENST00000538475;ENST00000537706;ENST00000537642	T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46	5.04	5.04	0.67666	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.49660	0.1570	L	0.52126	1.63	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.992;0.999	T	0.47484	-0.9114	10	0.49607	T	0.09	-26.2298	15.0622	0.71964	0.0:0.0:0.0:1.0	.	144;269;269	B4E3L3;Q6NZX9;Q96RU2	.;.;UBP28_HUMAN	G	269;269;144;33;269;168	ENSP00000003302:D269G;ENSP00000260188:D269G;ENSP00000444991:D144G;ENSP00000442257:D33G;ENSP00000445743:D269G;ENSP00000440799:D168G	ENSP00000003302:D269G	D	-	2	0	USP28	113207879	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.707000	0.68370	2.011000	0.59026	0.460000	0.39030	GAC	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398789.1		-	ENST00000003302.4	Missense_Mutation	SNP	11 : 113702669 - 113702669 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	259	14
PCK1	5105	broad.mit.edu	37	20	56139438	56139438	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:56139438G>T	ENST00000319441.4	+	7	1339	c.1175G>T	c.(1174-1176)aGc>aTc	p.S392I	PCK1_ENST00000543666.1_Missense_Mutation_p.S75I|PCK1_ENST00000535860.1_Missense_Mutation_p.S260I	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	392					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			AAGGAGTGGAGCTCAGAGGAT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	73	76			NA	NA	20		NA											NA				56139438		2203	4300	6503	SO:0001583	missense				CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	5105	5105	4.1.1.32		8724	protein-coding gene	gene with protein product		614168			NA	1492743	Standard		NM_002591	NA	Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.1175G>T	20.37:g.56139438G>T	ENSP00000319814:p.Ser392Ile	NA	A8K437|Q8TCA3|Q9UJD2	37	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	G	8.620	0.891225	0.17613	.	.	ENSG00000124253	ENST00000540165;ENST00000319441;ENST00000543666;ENST00000535860	T;T;T	0.04551	3.6;3.6;3.6	5.2	-3.57	0.04612	.	0.544994	0.22389	N	0.060701	T	0.04363	0.0120	L	0.42632	1.34	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.002;0.004	T	0.35624	-0.9781	10	0.59425	D	0.04	-6.392	10.5693	0.45192	0.257:0.5833:0.1597:0.0	.	75;392	B4DT64;P35558	.;PCKGC_HUMAN	I	74;392;75;260	ENSP00000319814:S392I;ENSP00000445767:S75I;ENSP00000444342:S260I	ENSP00000319814:S392I	S	+	2	0	PCK1	55572844	0.001000	0.12720	0.001000	0.08648	0.212000	0.24457	-0.015000	0.12634	-0.255000	0.09486	0.655000	0.94253	AGC	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079851.2		+	ENST00000319441.4	Missense_Mutation	SNP	20 : 56139438 - 56139438 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	337	62
ARRDC2	27106	broad.mit.edu	37	19	18119532	18119532	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18119532C>T	ENST00000379656.3	+	2	455	c.272C>T	c.(271-273)aCc>aTc	p.T91I	ARRDC2_ENST00000222250.4_Missense_Mutation_p.T96I|ARRDC2_ENST00000608009.1_3'UTR	NM_001025604.1	NP_001020775.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	NA										endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						ACCGGGGAGACCACGACGCTG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	71	70			NA	NA	19		NA											NA				18119532		2203	4300	6503	SO:0001583	missense				CCDS12370.1, CCDS32956.1	19p13.12	2008-02-05				ENSG00000105643	27106	27106			25225	protein-coding gene	gene with protein product					NA	8619474, 9110174	Standard	NM_015683	NM_015683	NA	Approved	CLONE24945, PP2703	uc002nhv.3	Q8TBH0		ENST00000379656.3:c.272C>T	19.37:g.18119532C>T	ENSP00000368977:p.Thr91Ile	NA	B2RBG9|O95895|Q6ZRV9|Q8WYG6	37	CCDS32956.1	.	.	.	.	.	.	.	.	.	.	C	6.628	0.484246	0.12641	.	.	ENSG00000105643	ENST00000379656;ENST00000222250	T;T	0.13901	3.38;2.55	4.38	0.983	0.19767	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.742565	0.13154	N	0.409615	T	0.06781	0.0173	N	0.12637	0.245	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.42413	-0.9453	10	0.20046	T	0.44	-1.567	8.174	0.31270	0.0:0.5569:0.0:0.4431	.	96;91	Q8TBH0;Q8TBH0-2	ARRD2_HUMAN;.	I	91;96	ENSP00000368977:T91I;ENSP00000222250:T96I	ENSP00000222250:T96I	T	+	2	0	ARRDC2	17980532	0.001000	0.12720	0.003000	0.11579	0.550000	0.35303	0.229000	0.17833	0.080000	0.16959	0.561000	0.74099	ACC	ARRDC2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466842.5		+	ENST00000379656.3	Missense_Mutation	SNP	19 : 18119532 - 18119532 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	601	86
PHF11	51131	broad.mit.edu	37	13	50080886	50080886	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50080886T>G	ENST00000378319.3	+	2	251	c.210T>G	c.(208-210)aaT>aaG	p.N70K	PHF11_ENST00000357596.3_Missense_Mutation_p.N31K|PHF11_ENST00000488958.1_Missense_Mutation_p.N31K	NM_001040443.1	NP_001035533.1	Q9UIL8	PHF11_HUMAN	PHD finger protein 11	70					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			large_intestine(3)|lung(1)	4		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)		CTCATGAGAATTGTTTGGTAA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	74	78			NA	NA	13		NA											NA				50080886		2203	4300	6503	SO:0001583	missense			AB011031	CCDS31975.1, CCDS41887.1	13q14.11	2014-05-20			ENSG00000136147	ENSG00000136147	51131	51131		Zinc fingers, PHD-type	17024	protein-coding gene	gene with protein product	IgE responsiveness (atopic)	607796			NA	10508479, 15057823	Standard	NM_016119	XM_005266417	NA	Approved	NY-REN-34, BCAP, IGER	uc001vdb.3	Q9UIL8	OTTHUMG00000016916	ENST00000378319.3:c.210T>G	13.37:g.50080886T>G	ENSP00000367570:p.Asn70Lys	NA	Q5W0A4|Q5W0A6|Q9Y5A2	37	CCDS31975.1	.	.	.	.	.	.	.	.	.	.	T	16.78	3.216685	0.58452	.	.	ENSG00000136147	ENST00000378319;ENST00000357596;ENST00000485919;ENST00000442195;ENST00000488958	T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54	4.55	0.94	0.19513	.	0.000000	0.85682	D	0.000000	T	0.78547	0.4300	M	0.75085	2.285	0.43355	D	0.99542	D;D	0.89917	1.0;1.0	D;D	0.91635	0.985;0.999	T	0.73020	-0.4114	10	0.35671	T	0.21	-29.6694	6.4155	0.21714	0.0:0.3386:0.0:0.6614	.	70;70	B4DTX8;Q9UIL8	.;PHF11_HUMAN	K	70;31;31;31;31	ENSP00000367570:N70K;ENSP00000350209:N31K;ENSP00000420129:N31K;ENSP00000405227:N31K;ENSP00000417539:N31K	ENSP00000350209:N31K	N	+	3	2	PHF11	48978887	0.956000	0.32656	0.998000	0.56505	0.993000	0.82548	-0.295000	0.08298	0.088000	0.17205	0.528000	0.53228	AAT	PHF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044915.1		+	ENST00000378319.3	Missense_Mutation	SNP	13 : 50080886 - 50080886 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	134	21
DPH1	1801	broad.mit.edu	37	17	1943631	1943631	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1943631G>A	ENST00000263083.6	+	8	929	c.884G>A	c.(883-885)gGc>gAc	p.G295D	DPH1_ENST00000570477.1_Missense_Mutation_p.G215D	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	295					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						CTTATTCTGGGCACTTTGGGC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	56	56			NA	NA	17		NA											NA				1943631		1970	4150	6120	SO:0001583	missense			S81752	CCDS42228.1	17p13.3	2013-05-02	2013-05-02	2005-06-03	ENSG00000108963	ENSG00000108963	1801	1801			3003	protein-coding gene	gene with protein product	ovarian tumor suppressor candidate 1	603527	diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae), DPH-like 1 (S. cerevisiae), DPH1 homolog (S. cerevisiae)	DPH2L, DPH2L1	NA	8603384, 15485916, 22869748	Standard	NM_001383	NM_001383	NA	Approved	OVCA1	uc002fts.3	Q9BZG8	OTTHUMG00000177724	ENST00000263083.6:c.884G>A	17.37:g.1943631G>A	ENSP00000263083:p.Gly295Asp	NA	D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0	37	CCDS42228.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719372	0.89205	.	.	ENSG00000108963	ENST00000263083	T	0.54866	0.55	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.80053	0.4553	M	0.93375	3.41	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.87578	0.996;0.998;0.986	D	0.85799	0.1372	10	0.87932	D	0	-18.5475	17.1373	0.86743	0.0:0.0:1.0:0.0	.	305;305;295	E7ENH3;B4DNK0;Q9BZG8	.;.;DPH1_HUMAN	D	295	ENSP00000263083:G295D	ENSP00000263083:G295D	G	+	2	0	DPH1	1890381	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	6.199000	0.72112	2.380000	0.81148	0.491000	0.48974	GGC	DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438660.1		+	ENST00000263083.6	Missense_Mutation	SNP	17 : 1943631 - 1943631 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	486	49
SULT1C4	27233	broad.mit.edu	37	2	108998883	108998883	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:108998883A>G	ENST00000272452.2	+	3	664	c.338A>G	c.(337-339)aAa>aGa	p.K113R	SULT1C4_ENST00000409309.3_Intron	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	113					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CGGATCCTGAAAACACATCTT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													255	240	245			NA	NA	2		NA											NA				108998883		2203	4300	6503	SO:0001583	missense			AF055584	CCDS2077.1	2q12.3	2008-09-04	2007-03-16	2007-03-16	ENSG00000198075	ENSG00000198075	27233	27233		Sulfotransferases, cytosolic	11457	protein-coding gene	gene with protein product		608357	sulfotransferase family, cytosolic, 1C, member 2	SULT1C2	NA	10783263, 9852044	Standard	NM_006588	NM_006588	NA	Approved	SULT1C	uc002tea.1	O75897	OTTHUMG00000130958	ENST00000272452.2:c.338A>G	2.37:g.108998883A>G	ENSP00000272452:p.Lys113Arg	NA	Q069I8|Q53S63	37	CCDS2077.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.630609	0.87660	.	.	ENSG00000198075	ENST00000272452	T	0.02763	4.17	4.44	4.44	0.53790	Sulfotransferase domain (1);	0.000000	0.53938	D	0.000055	T	0.10766	0.0263	M	0.76938	2.355	0.80722	D	1	P	0.47191	0.891	P	0.53988	0.739	T	0.01039	-1.1472	10	0.49607	T	0.09	.	13.3112	0.60380	1.0:0.0:0.0:0.0	.	113	O75897	ST1C4_HUMAN	R	113	ENSP00000272452:K113R	ENSP00000272452:K113R	K	+	2	0	SULT1C4	108365315	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	4.839000	0.62810	1.986000	0.57962	0.496000	0.49642	AAA	SULT1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253561.1		+	ENST00000272452.2	Missense_Mutation	SNP	2 : 108998883 - 108998883 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1644	288
MAGEE1	57692	broad.mit.edu	37	X	75650590	75650590	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:75650590T>G	ENST00000361470.2	+	1	2545	c.2267T>G	c.(2266-2268)tTt>tGt	p.F756C		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	756	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GTGCAGTTATTTCTGCTTATG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	69	72			NA	NA	X		NA											NA				75650590		2203	4300	6503	SO:0001583	missense			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934	57692	57692			24934	protein-coding gene	gene with protein product		300759			NA	14623885	Standard	NM_020932	NM_020932	NA	Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.2267T>G	X.37:g.75650590T>G	ENSP00000354912:p.Phe756Cys	NA	Q86TG0|Q8TD92|Q9H216	37	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	.	11.93	1.787028	0.31593	.	.	ENSG00000198934	ENST00000361470	T	0.04970	3.52	2.52	1.24	0.21308	.	.	.	.	.	T	0.10508	0.0257	N	0.24115	0.695	0.20196	N	0.999928	D	0.76494	0.999	D	0.79108	0.992	T	0.25117	-1.0141	9	0.87932	D	0	.	4.0955	0.09988	0.3819:0.0:0.0:0.6181	.	756	Q9HCI5	MAGE1_HUMAN	C	756	ENSP00000354912:F756C	ENSP00000354912:F756C	F	+	2	0	MAGEE1	75566994	1.000000	0.71417	0.443000	0.26883	0.996000	0.88848	1.535000	0.36061	0.218000	0.20820	0.486000	0.48141	TTT	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057298.1		+	ENST00000361470.2	Missense_Mutation	SNP	X : 75650590 - 75650590 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	278	82
STK31	56164	broad.mit.edu	37	7	23792445	23792445	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23792445A>C	ENST00000354639.3	+	9	1522	c.1058A>C	c.(1057-1059)gAa>gCa	p.E353A	STK31_ENST00000428484.1_Missense_Mutation_p.E353A|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.E376A|STK31_ENST00000355870.3_Missense_Mutation_p.E376A	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	376							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATACTGAAAGAAATGAGGTAG	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	62	62			NA	NA	7		NA											NA				23792445		2203	4300	6503	SO:0001583	missense			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335	56164	56164		Tudor domain containing	11407	protein-coding gene	gene with protein product		605790			NA	11279525	Standard	NM_031414	NM_031414	NA	Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000354639.3:c.1058A>C	7.37:g.23792445A>C	ENSP00000346660:p.Glu353Ala	NA	B7WPP5|Q6PCD3|Q9BXH8	37	CCDS43556.1	.	.	.	.	.	.	.	.	.	.	A	13.90	2.375457	0.42105	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	4.94	3.78	0.43462	.	0.293334	0.33199	N	0.005178	T	0.18173	0.0436	M	0.64997	1.995	0.34460	D	0.701686	P;D	0.56521	0.954;0.976	B;P	0.47206	0.437;0.541	T	0.28650	-1.0037	10	0.72032	D	0.01	-14.8871	7.4108	0.27016	0.8993:0.0:0.1007:0.0	.	376;376	B4DZ06;Q9BXU1	.;STK31_HUMAN	A	376;376;353;353	ENSP00000348132:E376A;ENSP00000411852:E376A;ENSP00000346660:E353A;ENSP00000406146:E353A	ENSP00000346660:E353A	E	+	2	0	STK31	23758970	1.000000	0.71417	1.000000	0.80357	0.297000	0.27493	1.206000	0.32321	0.844000	0.35094	0.482000	0.46254	GAA	STK31-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326723.1		+	ENST00000354639.3	Missense_Mutation	SNP	7 : 23792445 - 23792445 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	238	45
DVL3	1857	broad.mit.edu	37	3	183873534	183873534	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183873534G>A	ENST00000313143.3	+	1	359	c.111G>A	c.(109-111)ttG>ttA	p.L37L	DVL3_ENST00000431765.1_Silent_p.L37L|DVL3_ENST00000462665.1_3'UTR|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	37	DIX.				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			AGGGCGTTTTGCAGCGACCCA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	71	72			NA	NA	3		NA											NA				183873534		2203	4300	6503	SO:0001819	synonymous_variant			D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202	1857	1857		Dishevelled homologs	3087	protein-coding gene	gene with protein product		601368	dishevelled 3 (homologous to Drosophila dsh), dishevelled, dsh homolog 3 (Drosophila)		NA	8817329	Standard	NM_004423	NM_004423	NA	Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.111G>A	3.37:g.183873534G>A		NA	D3DNT0|O14642|Q13531|Q8N5E9|Q92607	37	CCDS3253.1																																																																																			DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346184.1		+	ENST00000313143.3	Silent	SNP	3 : 183873534 - 183873534 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	451	81
PCBP1	5093	broad.mit.edu	37	2	70315123	70315123	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70315123T>G	ENST00000303577.5	+	1	539	c.248T>G	c.(247-249)aTc>aGc	p.I83S	PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	83					nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						GAGGAAGATATCAACAGCTCC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(85;1146 1307 3484 18706 25380)							NA				0													81	94	90			NA	NA	2		NA											NA				70315123		2203	4300	6503	SO:0001583	missense				CCDS1898.1	2p13-p12	2013-07-16	2001-11-28		ENSG00000169564	ENSG00000169564	5093	5093			8647	protein-coding gene	gene with protein product	heterogeneous nuclear ribonucleoprotein E1	601209	poly(rC)-binding protein 1		NA	8833161	Standard	NM_006196	NM_006196	NA	Approved	HNRPE1, hnRNP-E1, HNRPX, hnRNP-X	uc002sgf.3	Q15365	OTTHUMG00000129645	ENST00000303577.5:c.248T>G	2.37:g.70315123T>G	ENSP00000305556:p.Ile83Ser	NA	Q13157|Q14975	37	CCDS1898.1	.	.	.	.	.	.	.	.	.	.	T	16.90	3.251377	0.59212	.	.	ENSG00000169564	ENST00000303577	T	0.41065	1.01	4.16	3.01	0.34805	.	0.000000	0.85682	U	0.000000	T	0.30885	0.0779	L	0.37466	1.105	0.58432	D	0.999999	B	0.21071	0.051	B	0.30179	0.112	T	0.05599	-1.0875	10	0.19590	T	0.45	.	8.1495	0.31132	0.0:0.098:0.0:0.902	.	83	Q15365	PCBP1_HUMAN	S	83	ENSP00000305556:I83S	ENSP00000305556:I83S	I	+	2	0	PCBP1	70168627	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.890000	0.69774	0.954000	0.37851	-0.361000	0.07541	ATC	PCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251844.1		+	ENST00000303577.5	Missense_Mutation	SNP	2 : 70315123 - 70315123 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	824	264
SIRPA	140885	broad.mit.edu	37	20	1903222	1903222	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1903222G>A	ENST00000358771.4	+	4	1170	c.1018G>A	c.(1018-1020)Gcg>Acg	p.A340T	SIRPA_ENST00000356025.3_Missense_Mutation_p.A340T|SIRPA_ENST00000400068.3_Missense_Mutation_p.A340T	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	340	Ig-like C1-type 2.				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CGGGCAGCCAGCGGTCAGCAA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(155;1668 1920 5945 42733 48121)							NA				0													56	48	50			NA	NA	20		NA											NA				1903222		2203	4296	6499	SO:0001583	missense			D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053	140885	140885		Signal-regulatory proteins, CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C1-set domain containing	9662	protein-coding gene	gene with protein product		602461	protein tyrosine phosphatase, non-receptor type substrate 1	PTPNS1	NA	9070220, 9062191, 16339511	Standard	NM_080792	XM_005260669	NA	Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.1018G>A	20.37:g.1903222G>A	ENSP00000351621:p.Ala340Thr	NA	A2A2E1|A8K411|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	37	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.142702	0.57044	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.09073	3.02;3.02;3.02	5.35	3.26	0.37387	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	0.593939	0.16053	N	0.231870	T	0.13500	0.0327	M	0.79475	2.455	0.09310	N	1	P;D;P	0.54047	0.79;0.964;0.889	B;B;P	0.44732	0.286;0.441;0.459	T	0.12656	-1.0539	10	0.48119	T	0.1	.	8.1172	0.30950	0.0:0.1926:0.6346:0.1728	.	320;340;340	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	T	340	ENSP00000382941:A340T;ENSP00000348307:A340T;ENSP00000351621:A340T	ENSP00000348307:A340T	A	+	1	0	SIRPA	1851222	0.048000	0.20356	0.113000	0.21522	0.081000	0.17604	1.072000	0.30678	1.607000	0.50170	-0.211000	0.12701	GCG	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077568.2		+	ENST00000358771.4	Missense_Mutation	SNP	20 : 1903222 - 1903222 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	228	43
IFIH1	64135	broad.mit.edu	37	2	163124694	163124694	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163124694T>C	ENST00000263642.2	-	14	3105	c.2710A>G	c.(2710-2712)Act>Gct	p.T904A		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	904					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CAAAGGAAAGTTATTAGTGAT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	136	134			NA	NA	2		NA											NA				163124694		2203	4300	6503	SO:0001583	missense			AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267	64135	64135			18873	protein-coding gene	gene with protein product	helicard	606951			NA		Standard	NM_022168	NM_022168	NA	Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.2710A>G	2.37:g.163124694T>C	ENSP00000263642:p.Thr904Ala	NA	Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	37	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	T	12.76	2.034499	0.35893	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.43688	0.94	5.31	5.31	0.75309	C-terminal domain of RIG-I (1);	0.350310	0.35291	N	0.003313	T	0.39489	0.1080	M	0.62723	1.935	0.41933	D	0.990576	B	0.27765	0.188	B	0.24006	0.05	T	0.27400	-1.0075	10	0.13470	T	0.59	-0.9591	15.2788	0.73764	0.0:0.0:0.0:1.0	.	904	Q9BYX4	IFIH1_HUMAN	A	904	ENSP00000263642:T904A	ENSP00000263642:T904A	T	-	1	0	IFIH1	162832940	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	5.717000	0.68446	2.013000	0.59113	0.528000	0.53228	ACT	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255078.2		-	ENST00000263642.2	Missense_Mutation	SNP	2 : 163124694 - 163124694 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	337	69
ARL4D	379	broad.mit.edu	37	17	41477126	41477126	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41477126C>T	ENST00000320033.4	+	2	233	c.26C>T	c.(25-27)gCg>gTg	p.A9V		NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	9					protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		ACTGAGATGGCGCCCACTGCC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	68	68			NA	NA	17		NA											NA				41477126		2203	4300	6503	SO:0001583	missense			AB060692	CCDS11463.1	17q21.31	2014-05-09	2005-11-03	2005-11-03	ENSG00000175906	ENSG00000175906	379	379		ADP-ribosylation factors-like, ADP-ribosylation factors	656	protein-coding gene	gene with protein product		600732	ADP-ribosylation factor 4-like	ARF4L	NA	7590735	Standard	NM_001661	NM_001661	NA	Approved		uc002idt.3	P49703		ENST00000320033.4:c.26C>T	17.37:g.41477126C>T	ENSP00000322628:p.Ala9Val	NA	B2RC59|D3DX43	37	CCDS11463.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892269	0.52014	.	.	ENSG00000175906	ENST00000320033	T	0.75367	-0.93	4.82	4.82	0.62117	.	0.137736	0.48286	D	0.000187	T	0.62684	0.2448	L	0.52266	1.64	0.58432	D	0.999994	P	0.47253	0.892	B	0.29663	0.105	T	0.67546	-0.5643	10	0.35671	T	0.21	-10.645	15.2659	0.73660	0.0:1.0:0.0:0.0	.	9	P49703	ARL4D_HUMAN	V	9	ENSP00000322628:A9V	ENSP00000322628:A9V	A	+	2	0	ARL4D	38832652	1.000000	0.71417	1.000000	0.80357	0.005000	0.04900	5.008000	0.63991	2.643000	0.89663	0.563000	0.77884	GCG	ARL4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453481.2		+	ENST00000320033.4	Missense_Mutation	SNP	17 : 41477126 - 41477126 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	412	92
DHX15	1665	broad.mit.edu	37	4	24543646	24543646	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:24543646C>T	ENST00000336812.4	-	8	1492		c.e8-1			NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	NA					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				GATTGTAGACCTATTGGAATT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	70	70			NA	NA	4		NA											NA				24543646		2203	4300	6503	SO:0001630	splice_region_variant			AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606	1665	1665		DEAH-boxes	2738	protein-coding gene	gene with protein product		603403	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15, DEAH (Asp-Glu-Ala-His) box polypeptide 15	DDX15	NA	9388478	Standard	NM_001358	NM_001358	NA	Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.1336-1G>A	4.37:g.24543646C>T		NA	Q9NQT7	37	CCDS33966.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275687	0.59649	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DHX15	24152744	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	7.445000	0.80570	2.937000	0.99478	0.650000	0.86243	.	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360143.1	Intron	-	ENST00000336812.4	Splice_Site	SNP	4 : 24543646 - 24543646 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	268	44
GDF2	2658	broad.mit.edu	37	10	48413908	48413908	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:48413908G>A	ENST00000249598.1	-	2	1119	c.960C>T	c.(958-960)agC>agT	p.S320S		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	320					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CAGCCCCGGCGCTCCTTTTCC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	52	51			NA	NA	10		NA											NA				48413908		2203	4300	6503	SO:0001819	synonymous_variant			AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761	2658	2658		Endogenous ligands	4217	protein-coding gene	gene with protein product		605120			NA	10849432	Standard	NM_016204	NM_016204	NA	Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.960C>T	10.37:g.48413908G>A		NA	Q5VSQ9|Q9Y571	37	CCDS7219.1																																																																																			GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047891.1		-	ENST00000249598.1	Silent	SNP	10 : 48413908 - 48413908 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	491	85
OR4X2	119764	broad.mit.edu	37	11	48267277	48267277	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48267277G>T	ENST00000302329.3	+	1	670	c.622G>T	c.(622-624)Gca>Tca	p.A208S		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GGTCCTCTTAGCATCCTATAT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													192	168	176			NA	NA	11		NA											NA				48267277		2201	4298	6499	SO:0001583	missense			AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208	119764	119764		GPCR / Class A : Olfactory receptors	15184	protein-coding gene	gene with protein product					NA		Standard	NM_001004727	NM_001004727	NA	Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.622G>T	11.37:g.48267277G>T	ENSP00000307751:p.Ala208Ser	NA	B2RNK3|Q6IF73|Q96R63	37	CCDS31486.1	.	.	.	.	.	.	.	.	.	.	G	4.223	0.040199	0.08148	.	.	ENSG00000172208	ENST00000302329	T	0.37235	1.21	5.37	0.603	0.17541	GPCR, rhodopsin-like superfamily (1);	0.378408	0.22553	N	0.058569	T	0.22244	0.0536	L	0.35487	1.065	0.09310	N	1	B	0.15719	0.014	B	0.19666	0.026	T	0.13045	-1.0524	10	0.35671	T	0.21	.	4.8436	0.13503	0.1753:0.0:0.4144:0.4104	.	208	Q8NGF9	OR4X2_HUMAN	S	208	ENSP00000307751:A208S	ENSP00000307751:A208S	A	+	1	0	OR4X2	48223853	0.000000	0.05858	0.002000	0.10522	0.320000	0.28249	-1.070000	0.03440	0.201000	0.20466	0.650000	0.86243	GCA	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383376.2		+	ENST00000302329.3	Missense_Mutation	SNP	11 : 48267277 - 48267277 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	725	100
ADORA3	140	broad.mit.edu	37	1	112045922	112045922	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:112045922C>T	ENST00000241356.4	-	1	460	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	ADORA3_ENST00000369716.4_Missense_Mutation_p.E19K|ADORA3_ENST00000369717.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	19					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	ATGAAAATTTCCATGGTGATG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	56	59			NA	NA	1		NA											NA				112045922		2203	4300	6503	SO:0001583	missense			BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933	140	140		GPCR / Class A : Adenosine receptors, Immunoglobulin superfamily / V-set domain containing	268	protein-coding gene	gene with protein product		600445			NA	7607699	Standard	NM_000677, NM_020683	NM_020683	NA	Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.55G>A	1.37:g.112045922C>T	ENSP00000241356:p.Glu19Lys	NA	A2A3P4|Q6UWU0|Q9BYZ1	37	CCDS839.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.149557	0.78001	.	.	ENSG00000121933	ENST00000369716;ENST00000241356	T;T	0.37411	1.2;1.2	5.63	5.63	0.86233	.	0.000000	0.48767	D	0.000165	T	0.51126	0.1656	M	0.66439	2.03	0.80722	D	1	D;D	0.54601	0.967;0.958	P;D	0.74023	0.765;0.982	T	0.30149	-0.9988	10	0.28530	T	0.3	-22.6307	19.2654	0.93983	0.0:1.0:0.0:0.0	.	19;19	P33765;P33765-2	AA3R_HUMAN;.	K	19	ENSP00000358730:E19K;ENSP00000241356:E19K	ENSP00000241356:E19K	E	-	1	0	ADORA3	111847445	1.000000	0.71417	0.947000	0.38551	0.125000	0.20455	7.487000	0.81328	2.659000	0.90383	0.561000	0.74099	GAA	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033065.1		-	ENST00000241356.4	Missense_Mutation	SNP	1 : 112045922 - 112045922 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	157	22
PTGDR	5729	broad.mit.edu	37	14	52735160	52735160	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52735160C>A	ENST00000553372.1	+	1	631	c.628C>A	c.(628-630)Ctg>Atg	p.L210M	PTGDR_ENST00000306051.2_Missense_Mutation_p.L210M			Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	210						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CATGGCGCTGCTGGTCCTCGC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	65	70			NA	NA	14		NA											NA				52735160		2203	4300	6503	SO:0001583	missense			U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229	5729	5729		GPCR / Class A : Prostanoid receptors	9591	protein-coding gene	gene with protein product		604687			NA	7642548	Standard	NM_000953	NM_000953	NA	Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000553372.1:c.628C>A	14.37:g.52735160C>A	ENSP00000452408:p.Leu210Met	NA	Q13250|Q13251|Q1ZZ52	37		.	.	.	.	.	.	.	.	.	.	C	15.26	2.779967	0.49891	.	.	ENSG00000168229	ENST00000306051;ENST00000553372	T;T	0.37915	1.17;1.17	4.76	1.85	0.25348	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38436	N	0.001694	T	0.49864	0.1582	M	0.64676	1.99	0.33085	D	0.537101	D	0.76494	0.999	D	0.75484	0.986	T	0.57785	-0.7751	10	0.49607	T	0.09	-7.4508	6.8445	0.23980	0.0:0.5646:0.2759:0.1596	.	210	Q13258	PD2R_HUMAN	M	210	ENSP00000303424:L210M;ENSP00000452408:L210M	ENSP00000303424:L210M	L	+	1	2	PTGDR	51804910	1.000000	0.71417	0.992000	0.48379	0.781000	0.44180	2.025000	0.41059	0.270000	0.21984	-0.302000	0.09304	CTG	PTGDR-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000411614.1		+	ENST00000553372.1	Missense_Mutation	SNP	14 : 52735160 - 52735160 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	431	71
PCDHA12	56137	broad.mit.edu	37	5	140255355	140255355	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140255355G>A	ENST00000398631.2	+	1	298	c.298G>A	c.(298-300)Gcg>Acg	p.A100T	PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1			protocadherin alpha 12	NA										NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCGGAGCGCGGAGTGCAG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(113;759 1672 13322 24104 50104)							NA				0													115	131	126			NA	NA	5		NA											NA				140255355		2203	4300	6503	SO:0001583	missense			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664	56137	56137		Cadherins / Protocadherins : Clustered	8666	other	complex locus constituent	KIAA0345-like 2	606318			NA	10380929	Standard	NM_018903	NM_018903	NA	Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.298G>A	5.37:g.140255355G>A	ENSP00000381628:p.Ala100Thr	NA		37	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	G	9.432	1.085756	0.20390	.	.	ENSG00000251664	ENST00000398631	T	0.27104	1.69	5.28	-5.31	0.02730	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.13030	0.0316	L	0.35793	1.09	0.09310	N	1	B;B	0.31026	0.078;0.304	B;B	0.15870	0.005;0.014	T	0.15407	-1.0438	9	0.36615	T	0.2	.	4.4904	0.11810	0.2499:0.3713:0.2996:0.0792	.	100;100	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	T	100	ENSP00000381628:A100T	ENSP00000381628:A100T	A	+	1	0	PCDHA12	140235539	0.000000	0.05858	0.012000	0.15200	0.765000	0.43378	-3.388000	0.00488	-0.988000	0.03489	-1.031000	0.02408	GCG	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372882.2		+	ENST00000398631.2	Missense_Mutation	SNP	5 : 140255355 - 140255355 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1374	53
ETV7	51513	broad.mit.edu	37	6	36336729	36336729	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36336729C>T	ENST00000340181.4	-	6	1025	c.784G>A	c.(784-786)Gcc>Acc	p.A262T	ETV7_ENST00000373737.4_Missense_Mutation_p.A185T|ETV7_ENST00000373738.1_Missense_Mutation_p.A207T|ETV7_ENST00000538992.1_Missense_Mutation_p.A111T|ETV7_ENST00000339796.5_Missense_Mutation_p.A262T	NM_001207037.1|NM_001207040.1|NM_016135.3	NP_001193966.1|NP_001193969.1|NP_057219.1	Q9Y603	ETV7_HUMAN	ets variant 7	262					organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						CAGAGTCTGGCGAGCCCATTT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													198	181	187			NA	NA	6		NA											NA				36336729		2203	4300	6503	SO:0001583	missense			AF116508	CCDS4819.1, CCDS56422.1, CCDS56423.1, CCDS56424.1, CCDS56425.1, CCDS75440.1, CCDS75441.1	6p21	2008-09-12	2008-09-12		ENSG00000010030	ENSG00000010030	51513	51513			18160	protein-coding gene	gene with protein product	TEL2 oncogene	605255	ets variant gene 7 (TEL2 oncogene)		NA	10828014, 11108721	Standard	NM_016135	NM_016135	NA	Approved	TEL2, TEL-2	uc003omb.3	Q9Y603	OTTHUMG00000014594	ENST00000340181.4:c.784G>A	6.37:g.36336729C>T	ENSP00000341843:p.Ala262Thr	NA	B3KVC2|B4E1G4|Q5R3L3|Q5R3L4|Q9NZ65|Q9NZ66|Q9NZ68|Q9NZR8|Q9UNJ7|Q9Y5K4|Q9Y604	37	CCDS4819.1	.	.	.	.	.	.	.	.	.	.	C	33	5.221298	0.95139	.	.	ENSG00000010030	ENST00000339796;ENST00000340181;ENST00000373737;ENST00000373738;ENST00000538992	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	4.18	4.18	0.49190	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.143577	0.46145	U	0.000312	T	0.61874	0.2382	M	0.91818	3.245	0.58432	D	0.999995	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;0.998;1.0	T	0.74182	-0.3748	10	0.87932	D	0	.	16.1147	0.81301	0.0:1.0:0.0:0.0	.	203;185;207;262;207;262	Q9Y603-2;Q9Y603-7;Q9Y603-4;Q9Y603;Q9Y603-6;Q9Y603-5	.;.;.;ETV7_HUMAN;.;.	T	262;262;185;207;111	ENSP00000342260:A262T;ENSP00000341843:A262T;ENSP00000362842:A185T;ENSP00000362843:A207T;ENSP00000440592:A111T	ENSP00000342260:A262T	A	-	1	0	ETV7	36444707	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	6.976000	0.76135	1.865000	0.54081	0.655000	0.94253	GCC	ETV7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040341.1		-	ENST00000340181.4	Missense_Mutation	SNP	6 : 36336729 - 36336729 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	927	156
DENND4B	9909	broad.mit.edu	37	1	153907339	153907339	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153907339G>T	ENST00000361217.4	-	18	3088	c.2670C>A	c.(2668-2670)ccC>ccA	p.P890P		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	890	Gln-rich.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTTCTCTCAAGGGCTGGCGGA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	73	70			NA	NA	1		NA											NA				153907339		2193	4287	6480	SO:0001819	synonymous_variant			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837	9909	9909		DENN/MADD domain containing	29044	protein-coding gene	gene with protein product			KIAA0476	KIAA0476	NA	9455484, 12906859	Standard	XM_375806	NM_014856	NA	Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2670C>A	1.37:g.153907339G>T		NA	Q5T4K0	37	CCDS44228.1																																																																																			DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090278.2		-	ENST00000361217.4	Silent	SNP	1 : 153907339 - 153907339 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	722	112
ZNF860	344787	broad.mit.edu	37	3	32031382	32031382	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32031382C>T	ENST00000360311.4	+	2	1360	c.811C>T	c.(811-813)Cga>Tga	p.R271*		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						TAATCAGAAGCGATACCTTGC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	89	97			NA	NA	3		NA											NA				32031382		692	1591	2283	SO:0001587	stop_gained			AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385	344787	344787		Zinc fingers, C2H2-type, -	34513	protein-coding gene	gene with protein product					NA		Standard		NM_001137674	NA	Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.811C>T	3.37:g.32031382C>T	ENSP00000373274:p.Arg271*	NA	B4DFA4	37	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789049	0.90367	.	.	ENSG00000197385	ENST00000360311	.	.	.	0.345	-0.691	0.11305	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.5488	0.12098	0.0:0.2934:0.0:0.7066	.	.	.	.	X	271	.	.	R	+	1	2	ZNF860	32006386	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-2.051000	0.01402	-1.274000	0.02421	-1.289000	0.01358	CGA	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341957.1		+	ENST00000360311.4	Nonsense_Mutation	SNP	3 : 32031382 - 32031382 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	510	71
ZNF235	9310	broad.mit.edu	37	19	44791924	44791924	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44791924C>A	ENST00000291182.4	-	5	1766	c.1664G>T	c.(1663-1665)aGc>aTc	p.S555I	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	555					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				AAGATTCAAGCTCCAATTGAA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	83	84			NA	NA	19		NA											NA				44791924		2203	4300	6503	SO:0001583	missense			X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917	9310	9310		Zinc fingers, C2H2-type, -	12866	protein-coding gene	gene with protein product		604749	zinc finger protein homologous to Zfp93 in mouse	ZNF270, ZFP93	NA	7865130, 9570955	Standard		NM_004234	NA	Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.1664G>T	19.37:g.44791924C>A	ENSP00000291182:p.Ser555Ile	NA	B4DTQ7|O14898|O14899|Q17RR8	37	CCDS33048.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.339720	0.41398	.	.	ENSG00000159917	ENST00000391957;ENST00000291182;ENST00000359844	T	0.37058	1.22	5.04	2.76	0.32466	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000106	T	0.48874	0.1524	M	0.76170	2.325	0.09310	N	0.999994	D;D	0.89917	0.999;1.0	D;D	0.67725	0.953;0.916	T	0.39354	-0.9618	10	0.51188	T	0.08	.	1.762	0.02994	0.1678:0.4886:0.1625:0.1811	.	551;555	Q14590-2;Q14590	.;ZN235_HUMAN	I	555;555;447	ENSP00000291182:S555I	ENSP00000291182:S555I	S	-	2	0	ZNF235	49483764	0.000000	0.05858	0.994000	0.49952	0.919000	0.55068	0.015000	0.13355	1.253000	0.44018	0.462000	0.41574	AGC	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460732.1		-	ENST00000291182.4	Missense_Mutation	SNP	19 : 44791924 - 44791924 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	451	89
ZNF621	285268	broad.mit.edu	37	3	40571782	40571782	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40571782C>T	ENST00000339296.5	+	4	686	c.234C>T	c.(232-234)acC>acT	p.T78T	ZNF621_ENST00000310898.1_Silent_p.T78T|ZNF621_ENST00000490457.1_3'UTR|ZNF621_ENST00000431278.1_5'UTR|ZNF621_ENST00000403205.2_Silent_p.T78T	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	78	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		CCTGGGACACCGAGATTCTGA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	117	119			NA	NA	3		NA											NA				40571782		2203	4300	6503	SO:0001819	synonymous_variant			AK127181	CCDS2693.1, CCDS74920.1	3p21.33	2013-01-08			ENSG00000172888	ENSG00000172888	285268	285268		Zinc fingers, C2H2-type, -	24787	protein-coding gene	gene with protein product					NA		Standard	NM_198484	XM_005265079	NA	Approved	FLJ45246	uc003ckm.2	Q6ZSS3	OTTHUMG00000131389	ENST00000339296.5:c.234C>T	3.37:g.40571782C>T		NA	Q14DC7|Q8TE91	37	CCDS2693.1																																																																																			ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254178.2		+	ENST00000339296.5	Silent	SNP	3 : 40571782 - 40571782 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	387	73
ENO1	2023	broad.mit.edu	37	1	8923343	8923343	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8923343G>A	ENST00000234590.4	-	10	1246	c.1127C>T	c.(1126-1128)aCt>aTt	p.T376I		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	376					gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GGTATCTTCAGTCTCCCCCGA	0.547		NA									OREG0013068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(21;302 608 19946 22210 33560)							NA				0													134	121	126			NA	NA	1		NA											NA				8923343		2203	4300	6503	SO:0001583	missense			BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	2023	2023	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1	NA	9653645, 9691177	Standard	NM_001428	NM_001428	NA	Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.1127C>T	1.37:g.8923343G>A	ENSP00000234590:p.Thr376Ile	653	B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q9UCH6|Q9UM55	37	CCDS97.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020741	0.93462	.	.	ENSG00000074800	ENST00000234590	T	0.26067	1.76	5.46	5.46	0.80206	Enolase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70395	0.3219	H	0.98901	4.365	0.58432	D	0.999994	P;D;D;P;D;D	0.89917	0.886;0.999;0.971;0.886;0.999;1.0	D;D;D;D;D;D	0.91635	0.964;0.998;0.964;0.94;0.996;0.999	D	0.83613	0.0135	10	0.87932	D	0	-37.9347	18.2966	0.90148	0.0:0.0:1.0:0.0	.	77;280;214;126;283;376	A4QMW8;E2DRY6;Q9BT62;Q96GV1;P06733-2;P06733	.;.;.;.;.;ENOA_HUMAN	I	376	ENSP00000234590:T376I	ENSP00000234590:T376I	T	-	2	0	ENO1	8845930	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	9.712000	0.98738	2.586000	0.87340	0.561000	0.74099	ACT	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000004945.1		-	ENST00000234590.4	Missense_Mutation	SNP	1 : 8923343 - 8923343 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	169	9
TNFSF8	944	broad.mit.edu	37	9	117666569	117666569	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117666569T>C	ENST00000223795.2	-	4	460	c.347A>G	c.(346-348)aAc>aGc	p.N116S	TNFSF8_ENST00000474301.1_5'UTR	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	116					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						GCCATCTTTGTTCCAAGACAA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	136	137			NA	NA	9		NA											NA				117666569		2203	4300	6503	SO:0001583	missense			L09753	CCDS6810.1, CCDS75884.1	9q33	2008-02-05			ENSG00000106952	ENSG00000106952	944	944		Tumor necrosis factor (ligand) superfamily, CD molecules	11938	protein-coding gene	gene with protein product		603875		CD30LG	NA	8391931, 9349718	Standard		NM_001244	NA	Approved	CD153	uc004bji.2	P32971	OTTHUMG00000021025	ENST00000223795.2:c.347A>G	9.37:g.117666569T>C	ENSP00000223795:p.Asn116Ser	NA	O43404	37	CCDS6810.1	.	.	.	.	.	.	.	.	.	.	T	18.48	3.632859	0.67015	.	.	ENSG00000106952	ENST00000223795	D	0.94232	-3.38	5.63	5.63	0.86233	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.078972	0.53938	D	0.000050	D	0.92763	0.7699	L	0.29908	0.895	0.33043	D	0.531677	D	0.59767	0.986	P	0.59595	0.86	D	0.93475	0.6822	10	0.31617	T	0.26	-27.2485	13.3596	0.60648	0.0:0.0:0.0:1.0	.	116	P32971	TNFL8_HUMAN	S	116	ENSP00000223795:N116S	ENSP00000223795:N116S	N	-	2	0	TNFSF8	116706390	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	2.524000	0.45589	2.148000	0.66965	0.533000	0.62120	AAC	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055464.1		-	ENST00000223795.2	Missense_Mutation	SNP	9 : 117666569 - 117666569 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	663	138
THNSL2	55258	broad.mit.edu	37	2	88482594	88482594	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88482594T>G	ENST00000449349.1	+	7	887				THNSL2_ENST00000324166.5_Splice_Site|THNSL2_ENST00000358591.2_Splice_Site|THNSL2_ENST00000343544.4_Splice_Site|THNSL2_ENST00000402102.1_Splice_Site|THNSL2_ENST00000377254.3_Splice_Site|THNSL2_ENST00000496844.1_Splice_Site			Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	NA					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						CACAGCAAGGTCAGTCACTAC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	69	71			NA	NA	2		NA											NA				88482594		2203	4300	6503	SO:0001627	intron_variant				CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115	55258	55258			25602	protein-coding gene	gene with protein product		611261			NA	17034760	Standard	NM_018271	NM_018271	NA	Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000449349.1:c.707-2823T>G	2.37:g.88482594T>G		NA	B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	37		.	.	.	.	.	.	.	.	.	.	T	13.71	2.319031	0.41096	.	.	ENSG00000144115	ENST00000358591;ENST00000377254;ENST00000402102;ENST00000544063;ENST00000343544;ENST00000324166	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2669	0.73669	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	THNSL2	88263709	1.000000	0.71417	1.000000	0.80357	0.412000	0.31113	6.965000	0.76067	2.210000	0.71456	0.459000	0.35465	.	THNSL2-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000338223.1		+	ENST00000449349.1	Intron	SNP	2 : 88482594 - 88482594 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	195	46
ABCA2	20	broad.mit.edu	37	9	139907734	139907734	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139907734G>A	ENST00000341511.6	-	30	4636	c.4587C>T	c.(4585-4587)ctC>ctT	p.L1529L	ABCA2_ENST00000265662.5_Silent_p.L1529L|ABCA2_ENST00000371605.3_Silent_p.L1528L	NM_001606.4|NM_212533.2	NP_001597|NP_997698.1	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1528					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ACGTGCTCACGAGCTGCTGGG	0.736		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													4	6	6			NA	NA	9		NA											NA				139907734		1634	3662	5296	SO:0001819	synonymous_variant			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331	20	20		ATP binding cassette transporters / subfamily A	32	protein-coding gene	gene with protein product		600047		ABC2	NA	8088782	Standard	NM_001606	NM_212533	NA	Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000341511.6:c.4587C>T	9.37:g.139907734G>A		NA	A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	37	CCDS43909.1																																																																																			ABCA2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055199.2		-	ENST00000341511.6	Silent	SNP	9 : 139907734 - 139907734 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	84	17
CEACAM7	1087	broad.mit.edu	37	19	42192088	42192088	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42192088A>G	ENST00000006724.3	-	1	208	c.7T>C	c.(7-9)Tcc>Ccc	p.S3P	CEACAM7_ENST00000599715.1_Intron|CEACAM7_ENST00000602225.1_Missense_Mutation_p.S3P|CEACAM7_ENST00000401731.1_Missense_Mutation_p.S3P|CEACAM7_ENST00000338196.4_Missense_Mutation_p.S3P	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	3						anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		GCTGAAGGGGACCCCATGGTC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	67	72			NA	NA	19		NA											NA				42192088		2203	4300	6503	SO:0001583	missense			X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306	1087	1087		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	1819	protein-coding gene	gene with protein product	carcinoembryonic antigen gene family member 2			CGM2	NA	7806520, 9135022	Standard	NM_006890	XM_005278379	NA	Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.7T>C	19.37:g.42192088A>G	ENSP00000006724:p.Ser3Pro	NA	A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	37	CCDS12583.1	.	.	.	.	.	.	.	.	.	.	-	0.006	-2.095813	0.00364	.	.	ENSG00000007306	ENST00000006724;ENST00000412062;ENST00000401731;ENST00000338196	T;T;T	0.13538	2.58;2.58;5.32	1.67	0.317	0.15861	.	.	.	.	.	T	0.02767	0.0083	N	0.00765	-1.205	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.09377	0.004;0.001	T	0.44065	-0.9352	9	0.02654	T	1	.	4.1531	0.10247	0.2321:0.0:0.7679:0.0	.	3;3	Q14002-2;Q14002	.;CEAM7_HUMAN	P	3	ENSP00000006724:S3P;ENSP00000385932:S3P;ENSP00000343286:S3P	ENSP00000006724:S3P	S	-	1	0	CEACAM7	46883928	0.000000	0.05858	0.257000	0.24404	0.035000	0.12851	-1.106000	0.03319	0.234000	0.21139	-0.756000	0.03474	TCC	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321145.1		-	ENST00000006724.3	Missense_Mutation	SNP	19 : 42192088 - 42192088 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	315	56
RBM15	64783	broad.mit.edu	37	1	110884176	110884176	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110884176C>T	ENST00000369784.3	+	1	3049	c.2149C>T	c.(2149-2151)Cga>Tga	p.R717*	RBM15_ENST00000602849.1_Nonsense_Mutation_p.R717*|RBM15_ENST00000487146.2_Nonsense_Mutation_p.R717*	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	717	Arg-rich.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGGTGACAAGCGAGACCGTAA	0.502		NA	T	MKL1	acute megakaryocytic leukemia									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	0													75	78	77			NA	NA	1		NA											NA				110884176		2203	4300	6503	SO:0001587	stop_gained			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775	64783	64783		RNA binding motif (RRM) containing	14959	protein-coding gene	gene with protein product	one twenty-two	606077			NA	11431691, 11344311	Standard	NM_022768	NM_001201545	NA	Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.2149C>T	1.37:g.110884176C>T	ENSP00000358799:p.Arg717*	NA	Q4V760|Q5D058|Q5T613|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	37	CCDS822.1	.	.	.	.	.	.	.	.	.	.	C	46	12.690748	0.99688	.	.	ENSG00000162775	ENST00000369784	.	.	.	4.87	2.85	0.33270	.	0.000000	0.37012	N	0.002291	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.793	13.5867	0.61935	0.2815:0.7185:0.0:0.0	.	.	.	.	X	717	.	ENSP00000358799:R717X	R	+	1	2	RBM15	110685699	0.623000	0.27094	1.000000	0.80357	0.999000	0.98932	1.148000	0.31614	1.234000	0.43709	0.655000	0.94253	CGA	RBM15-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000031114.2		+	ENST00000369784.3	Nonsense_Mutation	SNP	1 : 110884176 - 110884176 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	408	30
BRINP3	339479	broad.mit.edu	37	1	190067938	190067938	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:190067938G>A	ENST00000367462.3	-	8	1742	c.1511C>T	c.(1510-1512)aCg>aTg	p.T504M	BRINP3_ENST00000534846.1_Missense_Mutation_p.T402M	NM_199051.1	NP_950252.1			bone morphogenetic protein/retinoic acid inducible neural-specific 3	504											NA						TCGTCTGTCCGTTTTCTGCAG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	154	156			NA	NA	1		NA											NA				190067938		2203	4300	6503	SO:0001583	missense			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670	339479	339479			22393	protein-coding gene	gene with protein product			family with sequence similarity 5, member C	FAM5C	NA	16018821, 15193423	Standard	NM_199051	NM_199051	NA	Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1511C>T	1.37:g.190067938G>A	ENSP00000356432:p.Thr504Met	NA		37	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	6.582	0.475662	0.12521	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.35973	1.28;1.28	5.75	4.84	0.62591	.	0.238609	0.42172	D	0.000755	T	0.10423	0.0255	N	0.01576	-0.805	0.09310	N	1	P;P	0.47106	0.89;0.606	B;B	0.35413	0.202;0.062	T	0.07214	-1.0784	10	0.17369	T	0.5	.	7.8088	0.29219	0.0816:0.0:0.7589:0.1595	.	402;504	B7Z260;Q76B58	.;FAM5C_HUMAN	M	504;402	ENSP00000356432:T504M;ENSP00000438022:T402M	ENSP00000356432:T504M	T	-	2	0	FAM5C	188334561	0.954000	0.32549	0.070000	0.20053	0.918000	0.54935	3.108000	0.50337	1.437000	0.47472	-0.216000	0.12614	ACG	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086278.1		-	ENST00000367462.3	Missense_Mutation	SNP	1 : 190067938 - 190067938 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	922	239
CHPF2	54480	broad.mit.edu	37	7	150935457	150935457	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150935457C>T	ENST00000495645.1	+	5	2261	c.1985C>T	c.(1984-1986)gCg>gTg	p.A662V	CHPF2_ENST00000035307.2_Missense_Mutation_p.A670V	NM_001284295.1	NP_001271224.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	670						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CAGGCTTCTGCGGAGGGCTGC	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	16	15			NA	NA	7		NA											NA				150935457		2194	4293	6487	SO:0001583	missense			AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	54480	54480	2.4.1.226	Beta 3-glycosyltransferases, Beta 4-glycosyltransferases	29270	protein-coding gene	gene with protein product		608037			NA	10718198, 12145278, 18316376	Standard	NM_019015	NM_019015	NA	Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000495645.1:c.1985C>T	7.37:g.150935457C>T	ENSP00000418914:p.Ala662Val	NA	B2DBD8|Q6P2I4|Q6UXD2	37		.	.	.	.	.	.	.	.	.	.	C	15.00	2.702049	0.48307	.	.	ENSG00000033100	ENST00000495645;ENST00000035307	T;T	0.16196	2.36;2.36	4.81	3.93	0.45458	.	0.235349	0.42964	D	0.000628	T	0.10208	0.0250	N	0.14661	0.345	0.36327	D	0.858613	P;B	0.48834	0.916;0.0	B;B	0.38755	0.281;0.001	T	0.19418	-1.0306	10	0.72032	D	0.01	-7.7357	12.433	0.55584	0.0:0.9194:0.0:0.0806	.	670;662	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	V	662;670	ENSP00000418914:A662V;ENSP00000035307:A670V	ENSP00000035307:A670V	A	+	2	0	CHPF2	150566390	1.000000	0.71417	0.299000	0.25016	0.957000	0.61999	4.766000	0.62279	1.246000	0.43901	0.655000	0.94253	GCG	CHPF2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000348842.1		+	ENST00000495645.1	Missense_Mutation	SNP	7 : 150935457 - 150935457 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	124	23
CCDC88C	440193	broad.mit.edu	37	14	91755667	91755667	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91755667G>T	ENST00000389857.6	-	25	4309	c.4223C>A	c.(4222-4224)gCc>gAc	p.A1408D		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1408					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TAAGGCTTTGGCTCCAATCCA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													212	220	217			NA	NA	14		NA											NA				91755667		1957	4145	6102	SO:0001583	missense				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133	440193	440193			19967	protein-coding gene	gene with protein product	Dvl-associating protein with a high frequency of leucine residues, spinocerebellar ataxia 40	611204	KIAA1509	KIAA1509	NA	17185515, 25062847	Standard	XM_029353	NM_001080414	NA	Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.4223C>A	14.37:g.91755667G>T	ENSP00000374507:p.Ala1408Asp	NA	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	37	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751333	0.89753	.	.	ENSG00000015133	ENST00000389857	T	0.62105	0.05	5.38	5.38	0.77491	.	0.310015	0.22674	U	0.057025	T	0.79281	0.4419	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.80259	-0.1457	10	0.59425	D	0.04	-32.1102	19.1411	0.93446	0.0:0.0:1.0:0.0	.	1408	Q9P219	DAPLE_HUMAN	D	1408	ENSP00000374507:A1408D	ENSP00000374507:A1408D	A	-	2	0	CCDC88C	90825420	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	8.445000	0.90326	2.507000	0.84556	0.561000	0.74099	GCC	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411650.1		-	ENST00000389857.6	Missense_Mutation	SNP	14 : 91755667 - 91755667 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1321	223
MUC16	94025	broad.mit.edu	37	19	8999547	8999547	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8999547G>A	ENST00000397910.4	-	56	40831	c.40628C>T	c.(40627-40629)gCa>gTa	p.A13543V	MUC16_ENST00000380951.5_Missense_Mutation_p.A184V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13545	SEA 10.			Missing (in Ref. 3; AAK74120).	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						TTTGGTGGCTGCCCCATCCTT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	67	70			NA	NA	19		NA											NA				8999547		1934	4124	6058	SO:0001583	missense			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.40628C>T	19.37:g.8999547G>A	ENSP00000381008:p.Ala13543Val	NA	Q6ZQW5|Q96RK2	37	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.55|12.55	1.972987|1.972987	0.34848|0.34848	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.44881|.	0.91;0.91|.	3.48|3.48	-3.76|-3.76	0.04359|0.04359	SEA (2);|.	.|.	.|.	.|.	.|.	T|.	0.40670|.	0.1126|.	L|L	0.49126|0.49126	1.545|1.545	.|.	.|.	.|.	P;D|.	0.55385|.	0.901;0.971|.	P;D|.	0.68192|.	0.456;0.956|.	T|.	0.50127|.	-0.8864|.	8|.	0.46703|.	T|.	0.11|.	0.184|0.184	6.1059|6.1059	0.20073|0.20073	0.1102:0.0:0.2301:0.6598|0.1102:0.0:0.2301:0.6598	.|.	21188;13543|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	V|X	13543;184|383	ENSP00000381008:A13543V;ENSP00000370338:A184V|.	ENSP00000370338:A184V|.	A|Q	-|-	2|1	0|0	MUC16|MUC16	8860547|8860547	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.002000|0.002000	0.02628|0.02628	-0.010000|-0.010000	0.12743|0.12743	-0.401000|-0.401000	0.07644|0.07644	-0.320000|-0.320000	0.08662|0.08662	GCA|CAG	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Missense_Mutation	SNP	19 : 8999547 - 8999547 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	107
ROS1	6098	broad.mit.edu	37	6	117609778	117609778	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117609778C>A	ENST00000368508.3	-	43	7119	c.6921G>T	c.(6919-6921)aaG>aaT	p.K2307N	ROS1_ENST00000368507.3_Missense_Mutation_p.K2301N	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	2307					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CATGTGGTTCCTTCTCTTCTT	0.478		NA	T	GOPC, SDC4, SLC34A2, EZR, LRIG3	glioblastoma, NSCLC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		O, E	0													113	112	112			NA	NA	6		NA											NA				117609778		2203	4300	6503	SO:0001583	missense			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936	6098	6098		Fibronectin type III domain containing	10261	protein-coding gene	gene with protein product		165020	v-ros avian UR2 sarcoma virus oncogene homolog 1, v-ros UR2 sarcoma virus oncogene homolog 1 (avian), c-ros oncogene 1 , receptor tyrosine kinase		NA	1611909	Standard		NM_002944	NA	Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.6921G>T	6.37:g.117609778C>A	ENSP00000357494:p.Lys2307Asn	NA	Q15368|Q5TDB5	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781434	0.49891	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.74002	-0.8;-0.8	4.5	3.64	0.41730	.	0.463960	0.18299	N	0.145467	T	0.45115	0.1326	L	0.27053	0.805	0.30118	N	0.805934	P	0.41313	0.745	B	0.38803	0.282	T	0.41520	-0.9504	10	0.72032	D	0.01	.	9.7257	0.40330	0.0:0.9041:0.0:0.0959	.	2307	P08922	ROS1_HUMAN	N	2307;2301	ENSP00000357494:K2307N;ENSP00000357493:K2301N	ENSP00000357493:K2301N	K	-	3	2	ROS1	117716471	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.783000	0.26802	1.118000	0.41863	0.563000	0.77884	AAG	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043464.1		-	ENST00000368508.3	Missense_Mutation	SNP	6 : 117609778 - 117609778 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	342	58
NOSIP	51070	broad.mit.edu	37	19	50060441	50060441	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50060441C>A	ENST00000596358.1	-	5	382	c.324G>T	c.(322-324)caG>caT	p.Q108H	NOSIP_ENST00000339093.3_Missense_Mutation_p.Q108H|NOSIP_ENST00000391853.3_Missense_Mutation_p.Q108H	NM_001270960.1	NP_001257889.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	108					negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		GCACATGGTCCTGCGAGGCCG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	26	25			NA	NA	19		NA											NA				50060441		2203	4299	6502	SO:0001583	missense			AF132959	CCDS12772.1	19q13.3	2008-02-05				ENSG00000142546	NA	51070			17946	protein-coding gene	gene with protein product					NA	11149895, 10810093	Standard		NM_015953	NA	Approved	CGI-25	uc002pol.4	Q9Y314		ENST00000596358.1:c.324G>T	19.37:g.50060441C>A	ENSP00000470034:p.Gln108His	NA	Q96FD2	37	CCDS12772.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602309	0.46423	.	.	ENSG00000142546	ENST00000339093;ENST00000391853	T;T	0.77098	-1.07;-1.07	5.15	2.95	0.34219	.	0.386687	0.27214	N	0.020382	T	0.67429	0.2892	L	0.42744	1.35	0.46701	D	0.999163	B	0.17852	0.024	B	0.16722	0.016	T	0.61182	-0.7114	10	0.52906	T	0.07	-32.2216	7.2859	0.26340	0.1672:0.7453:0.0:0.0875	.	108	Q9Y314	NOSIP_HUMAN	H	108	ENSP00000343497:Q108H;ENSP00000375726:Q108H	ENSP00000343497:Q108H	Q	-	3	2	NOSIP	54752253	0.990000	0.36364	0.964000	0.40570	0.526000	0.34562	0.233000	0.17911	0.527000	0.28560	0.462000	0.41574	CAG	NOSIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465423.1		-	ENST00000596358.1	Missense_Mutation	SNP	19 : 50060441 - 50060441 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	98	25
TRAK1	22906	broad.mit.edu	37	3	42236404	42236404	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42236404C>T	ENST00000449246.1	+	9	1163	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C	TRAK1_ENST00000341421.3_Missense_Mutation_p.R304C|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000327628.5_Missense_Mutation_p.R362C|TRAK1_ENST00000396175.1_Missense_Mutation_p.R304C	NM_001265609.1|NM_001265610.1	NP_001252538.1|NP_001252539.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	362	HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CACGTCTCGGCGCTACCACTC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(44;195 884 22595 31865 41850)							NA				0													119	86	97			NA	NA	3		NA											NA				42236404		2203	4300	6503	SO:0001583	missense				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606	22906	22906			29947	protein-coding gene	gene with protein product	OGT(O Glc NAc transferase) interacting protein 106 KDa, O-linked N-acetylglucosamine transferase interacting protein 106, milton homolog 1 (Drosophila)	608112			NA	10470851, 12435728, 16380713, 20230862	Standard	NM_014965	NM_014965	NA	Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000449246.1:c.862C>T	3.37:g.42236404C>T	ENSP00000410717:p.Arg288Cys	NA	Q63HR0|Q96B69	37	CCDS58826.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879276	0.91740	.	.	ENSG00000182606	ENST00000327628;ENST00000543338;ENST00000449246;ENST00000396175;ENST00000341421;ENST00000427771	T;T;T;T;T	0.15834	2.95;2.98;2.96;2.97;2.39	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.45094	0.1325	M	0.74258	2.255	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;P;P	0.79108	0.959;0.959;0.973;0.992;0.871;0.871	T	0.08126	-1.0737	10	0.42905	T	0.14	.	19.609	0.95594	0.0:1.0:0.0:0.0	.	288;304;362;304;288;362	B7Z218;C9JC32;B7Z347;Q9UPV9-2;E9PDS2;Q9UPV9	.;.;.;.;.;TRAK1_HUMAN	C	362;362;288;304;304;80	ENSP00000328998:R362C;ENSP00000410717:R288C;ENSP00000379478:R304C;ENSP00000340702:R304C;ENSP00000413729:R80C	ENSP00000328998:R362C	R	+	1	0	TRAK1	42211408	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.869000	0.69613	2.882000	0.98803	0.655000	0.94253	CGC	TRAK1-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343383.1		+	ENST00000449246.1	Missense_Mutation	SNP	3 : 42236404 - 42236404 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	123	28
TAS2R38	5726	broad.mit.edu	37	7	141672855	141672855	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141672855G>T	ENST00000547270.1	-	1	718	c.635C>A	c.(634-636)tCt>tAt	p.S212Y		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	212					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CATCCCAGAAGAAACCAGAAA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	109	107			NA	NA	7		NA											NA				141672855		2203	4300	6503	SO:0001583	missense			AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138	5726	5726		Taste receptors / Type 2, GPCR / Unclassified : Taste receptors	9584	protein-coding gene	gene with protein product		607751	phenylthiocarbamide tasting	PTC	NA	12624758, 12584440	Standard	NM_176817	NM_176817	NA	Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.635C>A	7.37:g.141672855G>T	ENSP00000448219:p.Ser212Tyr	NA	P59552|Q2M3E8|Q645W3|Q86UK3	37	CCDS34765.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.039484	0.35989	.	.	ENSG00000257138	ENST00000547270	T	0.46063	0.88	5.0	4.12	0.48240	.	0.161646	0.41396	D	0.000884	T	0.63768	0.2539	M	0.83223	2.63	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.57207	-0.7851	10	0.87932	D	0	.	9.2222	0.37384	0.0978:0.0:0.9022:0.0	.	212	P59533	T2R38_HUMAN	Y	212	ENSP00000448219:S212Y	ENSP00000331291:S212Y	S	-	2	0	TAS2R38	141319324	0.556000	0.26538	0.188000	0.23233	0.343000	0.28985	2.888000	0.48594	1.338000	0.45544	0.655000	0.94253	TCT	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350810.2		-	ENST00000547270.1	Missense_Mutation	SNP	7 : 141672855 - 141672855 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	333	53
EPS8L3	79574	broad.mit.edu	37	1	110294717	110294717	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110294717C>T	ENST00000369805.3	-	15	1566	c.1337G>A	c.(1336-1338)aGc>aAc	p.S446N	RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361965.4_Missense_Mutation_p.S445N|EPS8L3_ENST00000361852.4_Missense_Mutation_p.S415N	NM_139053.2	NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	445						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		AGGTTTGGGGCTGGAGGGCCT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	134	130			NA	NA	1		NA											NA				110294717		2203	4300	6503	SO:0001583	missense			AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758	79574	79574			21297	protein-coding gene	gene with protein product		614989			NA	12620401	Standard	NM_024526	NM_139053	NA	Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000369805.3:c.1337G>A	1.37:g.110294717C>T	ENSP00000358820:p.Ser446Asn	NA	A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	37	CCDS815.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612777	0.46631	.	.	ENSG00000198758	ENST00000361852;ENST00000369805;ENST00000361965	T;T;T	0.30182	1.54;1.54;1.54	5.49	0.0683	0.14369	Src homology-3 domain (1);	2.026650	0.01513	N	0.018038	T	0.14700	0.0355	L	0.50333	1.59	0.09310	N	1	P;P;P	0.46142	0.804;0.704;0.873	B;B;P	0.47346	0.36;0.255;0.544	T	0.05500	-1.0881	10	0.22109	T	0.4	-2.3711	4.5838	0.12271	0.0:0.4336:0.3061:0.2603	.	415;445;446	Q8TE67-2;Q8TE67;Q8TE67-3	.;ES8L3_HUMAN;.	N	415;446;445	ENSP00000354551:S415N;ENSP00000358820:S446N;ENSP00000355255:S445N	ENSP00000354551:S415N	S	-	2	0	EPS8L3	110096240	0.058000	0.20735	0.003000	0.11579	0.019000	0.09904	0.822000	0.27352	0.028000	0.15324	0.655000	0.94253	AGC	EPS8L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032233.1		-	ENST00000369805.3	Missense_Mutation	SNP	1 : 110294717 - 110294717 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1125	221
DTX2	113878	broad.mit.edu	37	7	76131750	76131750	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:76131750G>A	ENST00000324432.5	+	9	1876	c.1366G>A	c.(1366-1368)Gcc>Acc	p.A456T	DTX2_ENST00000413936.2_Missense_Mutation_p.A456T|DTX2_ENST00000446820.2_Missense_Mutation_p.A409T|DTX2_ENST00000430490.2_Missense_Mutation_p.A456T|DTX2_ENST00000307569.8_Missense_Mutation_p.A409T|DTX2_ENST00000446600.1_Missense_Mutation_p.A365T	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	456					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GTGCCTCCTGGCCATGTACTG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	44	50			NA	NA	7		NA											NA				76131750		2200	4297	6497	SO:0001583	missense				CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073	113878	113878		RING-type (C3HC4) zinc fingers	15973	protein-coding gene	gene with protein product		613141	deltex (Drosophila) homolog 2, deltex homolog 2 (Drosophila)		NA	12670957	Standard		NM_020892	NA	Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.1366G>A	7.37:g.76131750G>A	ENSP00000322885:p.Ala456Thr	NA	Q6XM88|Q96H69|Q9H890|Q9P200	37	CCDS5587.1	.	.	.	.	.	.	.	.	.	.	.	33	5.238086	0.95240	.	.	ENSG00000091073	ENST00000324432;ENST00000307569;ENST00000541989;ENST00000446600;ENST00000413936;ENST00000430490;ENST00000446820	T;D;T;T;T;D	0.85955	1.9;-2.05;1.9;1.9;1.9;-2.05	5.48	4.57	0.56435	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.105806	0.64402	D	0.000005	D	0.92286	0.7553	M	0.84326	2.69	0.80722	D	1	D;P;D;P;B	0.89917	0.976;0.954;1.0;0.944;0.278	D;D;D;D;P	0.97110	0.948;0.927;1.0;0.948;0.668	D	0.92566	0.6062	10	0.51188	T	0.08	-25.3383	14.377	0.66884	0.0:0.0:0.8509:0.1491	.	365;87;365;409;456	F5GX89;Q6P2H0;E7ET89;Q86UW9-2;Q86UW9	.;.;.;.;DTX2_HUMAN	T	456;409;365;365;456;456;409	ENSP00000322885:A456T;ENSP00000305242:A409T;ENSP00000397648:A365T;ENSP00000390218:A456T;ENSP00000411986:A456T;ENSP00000392545:A409T	ENSP00000305242:A409T	A	+	1	0	AC005522.1	75969686	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.765000	0.98953	1.258000	0.44101	0.655000	0.94253	GCC	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253104.2		+	ENST00000324432.5	Missense_Mutation	SNP	7 : 76131750 - 76131750 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	228	58
ACAA1	30	broad.mit.edu	37	3	38175489	38175489	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38175489G>A	ENST00000333167.8	-	3	449	c.277C>T	c.(277-279)Cag>Tag	p.Q93*	ACAA1_ENST00000301810.7_Nonsense_Mutation_p.Q93*|ACAA1_ENST00000544624.1_5'UTR|ACAA1_ENST00000444607.2_Nonsense_Mutation_p.Q93*|ACAA1_ENST00000450296.1_Nonsense_Mutation_p.Q93*	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	93					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		GCCCCAGGCTGCAGCACATTT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	66	65			NA	NA	3		NA											NA				38175489		2203	4300	6503	SO:0001587	stop_gained			X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	30	30	2.3.1.16		82	protein-coding gene	gene with protein product	peroxisomal 3-oxoacyl-Coenzyme A thiolase	604054	acetyl-Coenzyme A acyltransferase 1		NA		Standard	NM_001607	NM_001607	NA	Approved		uc003cht.3	P09110	OTTHUMG00000131087	ENST00000333167.8:c.277C>T	3.37:g.38175489G>A	ENSP00000333664:p.Gln93*	NA		37	CCDS2673.1	.	.	.	.	.	.	.	.	.	.	G	37	6.620698	0.97709	.	.	ENSG00000060971	ENST00000333167;ENST00000301810;ENST00000450296;ENST00000358122;ENST00000444607	.	.	.	5.58	5.58	0.84498	.	0.128735	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-11.4369	19.5262	0.95208	0.0:0.0:1.0:0.0	.	.	.	.	X	93;93;93;25;93	.	ENSP00000301810:Q93X	Q	-	1	0	ACAA1	38150493	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.327000	0.79147	2.778000	0.95560	0.655000	0.94253	CAG	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342980.1		-	ENST00000333167.8	Nonsense_Mutation	SNP	3 : 38175489 - 38175489 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	347	69
KATNAL2	83473	broad.mit.edu	37	18	44559411	44559411	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44559411G>A	ENST00000592005.1	+	3	724				KATNAL2_ENST00000356157.7_Intron|TCEB3B_ENST00000332567.4_Missense_Mutation_p.A742V|KATNAL2_ENST00000245121.5_Intron			Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	NA						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						GTCTCGAATTGCCTTGGCCAT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	75	73			NA	NA	18		NA											NA				44559411		2203	4296	6499	SO:0001627	intron_variant			BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216	83473	83473		ATPases / AAA-type	25387	protein-coding gene	gene with protein product		614697			NA	12477932	Standard	NM_031303	NM_031303	NA	Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000592005.1:c.51+32525G>A	18.37:g.44559411G>A		NA		37		.	.	.	.	.	.	.	.	.	.	G	12.91	2.078773	0.36662	.	.	ENSG00000206181	ENST00000332567	T	0.07567	3.18	1.62	-0.654	0.11443	.	0.693792	0.11843	N	0.524097	T	0.11153	0.0272	L	0.44542	1.39	0.09310	N	1	D	0.58268	0.982	P	0.54664	0.758	T	0.19386	-1.0307	10	0.41790	T	0.15	-1.6528	3.5071	0.07695	0.0:0.2844:0.4274:0.2882	.	742	Q8IYF1	ELOA2_HUMAN	V	742	ENSP00000331302:A742V	ENSP00000331302:A742V	A	-	2	0	TCEB3B	42813409	0.186000	0.23225	0.001000	0.08648	0.002000	0.02628	0.417000	0.21214	-0.196000	0.10366	-0.222000	0.12452	GCA	KATNAL2-008	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000446324.2		+	ENST00000592005.1	Intron	SNP	18 : 44559411 - 44559411 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	819	154
DHRS3	9249	broad.mit.edu	37	1	12638749	12638749	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12638749A>C	ENST00000376223.2	-	4	1078	c.695T>G	c.(694-696)gTc>gGc	p.V232G		NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	232					retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	CACTGACCTGACTCTCATGCC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	53	55			NA	NA	1		NA											NA				12638749		2203	4300	6503	SO:0001583	missense			AF061741	CCDS146.1	1p36.1	2011-09-20			ENSG00000162496	ENSG00000162496	9249	9249	1.1.-.-	Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3	17693	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 16C, member 1	612830			NA	9705317, 12226107, 19027726	Standard	NM_004753	XM_005263533	NA	Approved	retSDR1, Rsdr1, SDR1, RDH17, SDR16C1	uc001auc.3	O75911	OTTHUMG00000001885	ENST00000376223.2:c.695T>G	1.37:g.12638749A>C	ENSP00000365397:p.Val232Gly	NA	Q5VUY3|Q6UY38|Q9BUC8	37	CCDS146.1	.	.	.	.	.	.	.	.	.	.	A	18.47	3.630471	0.67015	.	.	ENSG00000162496	ENST00000376223;ENST00000430996	D;T	0.89196	-2.48;-1.4	5.53	5.53	0.82687	NAD(P)-binding domain (1);	0.165909	0.52532	D	0.000074	D	0.85691	0.5755	L	0.47716	1.5	0.80722	D	1	B	0.27559	0.181	B	0.20767	0.031	D	0.84054	0.0371	10	0.62326	D	0.03	.	15.6559	0.77133	1.0:0.0:0.0:0.0	.	232	O75911	DHRS3_HUMAN	G	232;147	ENSP00000365397:V232G;ENSP00000387903:V147G	ENSP00000365397:V232G	V	-	2	0	DHRS3	12561336	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.952000	0.93031	2.091000	0.63221	0.482000	0.46254	GTC	DHRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005318.1		-	ENST00000376223.2	Missense_Mutation	SNP	1 : 12638749 - 12638749 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	29
SMOX	54498	broad.mit.edu	37	20	4168011	4168011	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:4168011G>A	ENST00000305958.4	+	7	1850	c.1625G>A	c.(1624-1626)cGc>cAc	p.R542H	SMOX_ENST00000278795.3_Missense_Mutation_p.R519H|SMOX_ENST00000346595.2_Missense_Mutation_p.R177H|SMOX_ENST00000379460.2_Missense_Mutation_p.R542H|SMOX_ENST00000339123.6_Missense_Mutation_p.R489H	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	542					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	GAGGCTGCCCGCCTCATTGAG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	53	56			NA	NA	20		NA											NA				4168011		2203	4300	6503	SO:0001583	missense			AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826	54498	54498			15862	protein-coding gene	gene with protein product		615854	chromosome 20 open reading frame 16	C20orf16	NA	11454677, 12398765	Standard	NM_175842	NM_175839	NA	Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.1625G>A	20.37:g.4168011G>A	ENSP00000307252:p.Arg542His	NA	A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	37	CCDS13075.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165618	0.38217	.	.	ENSG00000088826	ENST00000339123;ENST00000305958;ENST00000278795;ENST00000346595;ENST00000379460;ENST00000457205	D;D;D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34;-3.34;-3.34	5.22	4.27	0.50696	Amine oxidase (1);	0.050195	0.85682	D	0.000000	D	0.92202	0.7527	M	0.84948	2.725	0.54753	D	0.999986	B;P;B;B;B;P	0.37083	0.159;0.581;0.213;0.385;0.1;0.581	B;B;B;B;B;B	0.31016	0.039;0.123;0.023;0.071;0.035;0.123	D	0.91219	0.5005	10	0.54805	T	0.06	-12.7215	11.6125	0.51069	0.0867:0.0:0.9133:0.0	.	466;572;177;542;489;519	B4DE63;Q9NWM0-6;Q9NWM0-3;Q9NWM0;Q9NWM0-2;Q9NWM0-4	.;.;.;SMOX_HUMAN;.;.	H	489;542;519;177;542;429	ENSP00000344595:R489H;ENSP00000307252:R542H;ENSP00000278795:R519H;ENSP00000341775:R177H;ENSP00000368773:R542H;ENSP00000407269:R429H	ENSP00000278795:R519H	R	+	2	0	SMOX	4116011	1.000000	0.71417	0.976000	0.42696	0.226000	0.24999	4.659000	0.61504	1.197000	0.43143	-0.145000	0.13849	CGC	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077806.1		+	ENST00000305958.4	Missense_Mutation	SNP	20 : 4168011 - 4168011 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	417	84
LATS2	26524	broad.mit.edu	37	13	21549149	21549149	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21549149G>A	ENST00000382592.4	-	8	3532	c.3127C>T	c.(3127-3129)Cga>Tga	p.R1043*	LATS2_ENST00000542899.1_Nonsense_Mutation_p.R1043*	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	1043	AGC-kinase C-terminal.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		AAGAACCTTCGGAAGGTGAAT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													200	181	187			NA	NA	13		NA											NA				21549149		2203	4300	6503	SO:0001587	stop_gained			AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457	26524	26524			6515	protein-coding gene	gene with protein product		604861	LATS (large tumor suppressor, Drosophila) homolog 2, LATS, large tumor suppressor, homolog 2 (Drosophila)		NA	10673337	Standard		NM_014572	NA	Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.3127C>T	13.37:g.21549149G>A	ENSP00000372035:p.Arg1043*	NA	B1AM47|Q9P2X1	37	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	G	40	7.991726	0.98599	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	.	.	.	6.07	5.16	0.70880	.	0.000000	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.1398	0.89636	0.0:0.0:0.8719:0.1281	.	.	.	.	X	1043	.	ENSP00000372035:R1043X	R	-	1	2	LATS2	20447149	1.000000	0.71417	0.998000	0.56505	0.048000	0.14542	6.238000	0.72350	2.885000	0.99019	0.655000	0.94253	CGA	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044102.1		-	ENST00000382592.4	Nonsense_Mutation	SNP	13 : 21549149 - 21549149 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	708	110
C7orf63	0	broad.mit.edu	37	7	89915597	89915597	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:89915597A>C	ENST00000389297.4	+	14	1791	c.1540A>C	c.(1540-1542)Atc>Ctc	p.I514L	C7orf63_ENST00000497910.1_Missense_Mutation_p.I496L|C7orf63_ENST00000316089.8_Missense_Mutation_p.I514L	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		514							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						CATACCAGGAATCTTTAAAAA	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	67	67			NA	NA	7		NA											NA				89915597		1787	4058	5845	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000389297.4:c.1540A>C	7.37:g.89915597A>C	ENSP00000373948:p.Ile514Leu	NA	A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	37	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	A	14.29	2.491633	0.44249	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000457170;ENST00000449577	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	4.93	2.46	0.29980	Armadillo-type fold (1);	0.101637	0.64402	D	0.000004	T	0.31327	0.0793	M	0.75264	2.295	0.38967	D	0.958667	B;B;B	0.10296	0.003;0.0;0.0	B;B;B	0.15870	0.014;0.004;0.002	T	0.15378	-1.0439	10	0.66056	D	0.02	-0.162	7.2354	0.26067	0.7758:0.1445:0.0797:0.0	.	496;514;514	A5D8W1-5;A5D8W1;A5D8W1-2	.;CG063_HUMAN;.	L	514;514;496;397;97	ENSP00000373948:I514L;ENSP00000321753:I514L;ENSP00000419549:I496L;ENSP00000392365:I397L;ENSP00000391571:I97L	ENSP00000321753:I514L	I	+	1	0	C7orf63	89753533	1.000000	0.71417	0.914000	0.36105	0.990000	0.78478	3.217000	0.51184	0.329000	0.23460	0.460000	0.39030	ATC	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000139891.4		+	ENST00000389297.4	Missense_Mutation	SNP	7 : 89915597 - 89915597 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	290	26
KCNB2	9312	broad.mit.edu	37	8	73848830	73848830	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:73848830C>T	ENST00000523207.1	+	3	1828	c.1240C>T	c.(1240-1242)Cca>Tca	p.P414S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	414					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CCTTCCTATCCCAATTATTGT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	76	75			NA	NA	8		NA											NA				73848830		2203	4300	6503	SO:0001583	missense			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674	9312	9312		Potassium channels, Voltage-gated ion channels / Potassium channels	6232	protein-coding gene	gene with protein product		607738			NA	9612272, 16382104	Standard	NM_004770	NM_004770	NA	Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1240C>T	8.37:g.73848830C>T	ENSP00000430846:p.Pro414Ser	NA	Q7Z7D0|Q9BXD3	37	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016589	0.75161	.	.	ENSG00000182674	ENST00000523207	D	0.98419	-4.92	5.74	5.74	0.90152	Ion transport (1);	0.000000	0.45126	D	0.000385	D	0.98741	0.9577	M	0.67397	2.05	0.80722	D	1	D	0.59767	0.986	D	0.68943	0.961	D	0.99865	1.1088	10	0.87932	D	0	.	19.91	0.97023	0.0:1.0:0.0:0.0	.	414	Q92953	KCNB2_HUMAN	S	414	ENSP00000430846:P414S	ENSP00000430846:P414S	P	+	1	0	KCNB2	74011384	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.818000	0.86416	2.702000	0.92279	0.655000	0.94253	CCA	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378998.1		+	ENST00000523207.1	Missense_Mutation	SNP	8 : 73848830 - 73848830 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	435	88
KIF2B	84643	broad.mit.edu	37	17	51900714	51900714	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:51900714G>T	ENST00000268919.4	+	1	476	c.320G>T	c.(319-321)aGg>aTg	p.R107M		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	107					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TCGGCCATCAGGGACCAGCGT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	92	89			NA	NA	17		NA											NA				51900714		2203	4300	6503	SO:0001583	missense			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200	84643	84643		Kinesins	29443	protein-coding gene	gene with protein product		615142			NA	11416179	Standard	NM_032559	NM_032559	NA	Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.320G>T	17.37:g.51900714G>T	ENSP00000268919:p.Arg107Met	NA	Q96MA2|Q9BXG6	37	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	G	3.971	-0.008450	0.07727	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.74526	-0.85	5.11	4.14	0.48551	.	0.973510	0.08370	N	0.956337	T	0.64148	0.2572	L	0.32530	0.975	0.09310	N	1	P	0.35077	0.483	B	0.31245	0.126	T	0.54523	-0.8281	10	0.44086	T	0.13	.	11.1089	0.48221	0.0897:0.0:0.9103:0.0	.	107	Q8N4N8	KIF2B_HUMAN	M	107;30	ENSP00000268919:R107M	ENSP00000268919:R107M	R	+	2	0	KIF2B	49255713	0.593000	0.26840	0.161000	0.22692	0.009000	0.06853	2.552000	0.45828	2.798000	0.96311	0.655000	0.94253	AGG	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438854.1		+	ENST00000268919.4	Missense_Mutation	SNP	17 : 51900714 - 51900714 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	844	155
GDAP2	54834	broad.mit.edu	37	1	118462854	118462854	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118462854G>A	ENST00000369443.5	-	2	376	c.127C>T	c.(127-129)Cga>Tga	p.R43*	GDAP2_ENST00000369442.3_Nonsense_Mutation_p.R43*	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	NA	Macro.									kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		AAAGGTGATCGAACAGTGTCT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	99	99			NA	NA	1		NA											NA				118462854		2203	4300	6503	SO:0001587	stop_gained			AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505	54834	54834			18010	protein-coding gene	gene with protein product					NA	1021725	Standard	NM_017686	NM_017686	NA	Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.127C>T	1.37:g.118462854G>A	ENSP00000358451:p.Arg43*	NA	Q96DZ0	37	CCDS897.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500671	0.85176	.	.	ENSG00000196505	ENST00000369443;ENST00000369442	.	.	.	5.22	-0.0107	0.13995	.	0.392143	0.28067	N	0.016740	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-7.2569	11.4034	0.49883	0.0:0.0671:0.5995:0.3334	.	.	.	.	X	43	.	ENSP00000358450:R43X	R	-	1	2	GDAP2	118264377	0.980000	0.34600	0.089000	0.20774	0.378000	0.30076	0.652000	0.24888	-0.085000	0.12573	-0.271000	0.10264	CGA	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033732.2		-	ENST00000369443.5	Nonsense_Mutation	SNP	1 : 118462854 - 118462854 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	307	32
LRWD1	222229	broad.mit.edu	37	7	102113476	102113476	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102113476G>A	ENST00000292616.5	+	15	2076	c.1924G>A	c.(1924-1926)Gcc>Acc	p.A642T		NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	642					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						CAACATCGTAGCCATCTGGGG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	94	98			NA	NA	7		NA											NA				102113476		2203	4300	6503	SO:0001583	missense			AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036	222229	222229		WD repeat domain containing	21769	protein-coding gene	gene with protein product	origin recognition complex associated, centromere protein 33	615167			NA	20932478, 20850016, 20180869	Standard	NM_152892	NM_152892	NA	Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.1924G>A	7.37:g.102113476G>A	ENSP00000292616:p.Ala642Thr	NA	A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	37	CCDS34715.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.819219	0.32145	.	.	ENSG00000161036	ENST00000292616	T	0.61274	0.12	5.94	5.04	0.67666	.	0.351640	0.33854	N	0.004491	T	0.48370	0.1496	L	0.50333	1.59	0.32081	N	0.593122	B	0.28605	0.217	B	0.24541	0.054	T	0.53486	-0.8432	10	0.13108	T	0.6	-18.8346	13.5495	0.61723	0.0:0.0:0.8392:0.1608	.	642	Q9UFC0	LRWD1_HUMAN	T	642	ENSP00000292616:A642T	ENSP00000292616:A642T	A	+	1	0	LRWD1	101900481	0.999000	0.42202	0.856000	0.33681	0.631000	0.37964	3.150000	0.50662	1.464000	0.47987	0.561000	0.74099	GCC	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349493.1		+	ENST00000292616.5	Missense_Mutation	SNP	7 : 102113476 - 102113476 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	434	68
ZFPM2	23414	broad.mit.edu	37	8	106814456	106814456	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:106814456C>T	ENST00000407775.2	+	8	2396	c.2146C>T	c.(2146-2148)Cct>Tct	p.P716S	RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P584S|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P584S|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P447S|RP11-152P17.2_ENST00000521622.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	716					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACGCCACGACCCTCCACTGAA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	53	54			NA	NA	8		NA											NA				106814456		2077	4205	6282	SO:0001583	missense			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946	23414	23414		Zinc fingers, C2H2-type, Zinc fingers, C2HC-type containing	16700	protein-coding gene	gene with protein product		603693	zinc finger protein, multitype 2		NA	9927675, 10438528	Standard		NM_012082	NA	Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2146C>T	8.37:g.106814456C>T	ENSP00000384179:p.Pro716Ser	NA	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	37	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422952	0.83559	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.25749	1.78;2.29;2.29;3.54	5.72	5.72	0.89469	.	0.046322	0.85682	D	0.000000	T	0.53270	0.1786	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.47522	-0.9111	10	0.46703	T	0.11	.	19.88	0.96892	0.0:1.0:0.0:0.0	.	716	Q8WW38	FOG2_HUMAN	S	716;584;584;447	ENSP00000384179:P716S;ENSP00000430757:P584S;ENSP00000428720:P584S;ENSP00000367733:P447S	ENSP00000367733:P447S	P	+	1	0	ZFPM2	106883632	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.818000	0.86416	2.708000	0.92522	0.561000	0.74099	CCT	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380614.1		+	ENST00000407775.2	Missense_Mutation	SNP	8 : 106814456 - 106814456 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	177	38
UGT2B4	7363	broad.mit.edu	37	4	70360997	70360997	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:70360997G>A	ENST00000305107.6	-	1	629	c.583C>T	c.(583-585)Cct>Tct	p.P195S	UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000381096.3_Missense_Mutation_p.P59S|UGT2B4_ENST00000512583.1_Missense_Mutation_p.P195S	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	195					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						ATAACAACAGGCACATAGGAA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	72	73			NA	NA	4		NA											NA				70360997		2191	4298	6489	SO:0001583	missense			BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096	7363	7363		UDP glucuronosyltransferases	12553	protein-coding gene	gene with protein product		600067	UDP glycosyltransferase 2 family, polypeptide B4		NA	3109396, 7835904	Standard	NM_021139	NM_021139	NA	Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.583C>T	4.37:g.70360997G>A	ENSP00000305221:p.Pro195Ser	NA	O60731|O60867|O75614|P36538|Q1HBF9	37	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209295	0.58343	.	.	ENSG00000156096	ENST00000512583;ENST00000305107;ENST00000381096	T;T;T	0.62941	-0.01;-0.01;2.95	2.4	2.4	0.29515	.	0.000000	0.64402	U	0.000007	D	0.83166	0.5195	H	0.96269	3.795	0.35731	D	0.817919	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.97110	0.994;0.987;1.0	D	0.89039	0.3447	10	0.87932	D	0	.	10.537	0.45009	0.0:0.0:1.0:0.0	.	59;195;195	A6NCP7;G5E9X8;P06133	.;.;UD2B4_HUMAN	S	195;195;59	ENSP00000421290:P195S;ENSP00000305221:P195S;ENSP00000370486:P59S	ENSP00000305221:P195S	P	-	1	0	UGT2B4	70395586	1.000000	0.71417	0.029000	0.17559	0.018000	0.09664	6.735000	0.74806	1.338000	0.45544	0.298000	0.19748	CCT	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365526.1		-	ENST00000305107.6	Missense_Mutation	SNP	4 : 70360997 - 70360997 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	352	49
UNC13C	440279	broad.mit.edu	37	15	54306705	54306705	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54306705G>A	ENST00000260323.11	+	1	1605	c.1605G>A	c.(1603-1605)tgG>tgA	p.W535*	UNC13C_ENST00000545554.1_Nonsense_Mutation_p.W535*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.W535*	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	535					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CACCTCTCTGGCACTCACAGA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	58	58			NA	NA	15		NA											NA				54306705		1854	4111	5965	SO:0001587	stop_gained			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766	440279	440279			23149	protein-coding gene	gene with protein product		614568			NA		Standard	NM_173166	NM_001080534	NA	Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.1605G>A	15.37:g.54306705G>A	ENSP00000260323:p.Trp535*	NA	Q0P613|Q8ND48|Q96NP3	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	39	7.471675	0.98306	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.4826	0.87677	0.0:0.0:1.0:0.0	.	.	.	.	X	535	.	ENSP00000260323:W535X	W	+	3	0	UNC13C	52093997	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.259000	0.95561	2.608000	0.88229	0.655000	0.94253	TGG	UNC13C-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419028.3		+	ENST00000260323.11	Nonsense_Mutation	SNP	15 : 54306705 - 54306705 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	276	59
NPRL2	10641	broad.mit.edu	37	3	50385985	50385985	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50385985G>A	ENST00000232501.3	-	7	1131	c.693C>T	c.(691-693)ggC>ggT	p.G231G	NPRL2_ENST00000493465.1_5'UTR	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	231					negative regulation of kinase activity		protein binding|protein kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						GTGTCACAACGCCGTAGTACC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	128	134			NA	NA	3		NA											NA				50385985		2203	4300	6503	SO:0001819	synonymous_variant			AF040708	CCDS2826.1	3p21.3	2010-03-30	2010-03-30	2010-03-30	ENSG00000114388	ENSG00000114388	10641	10641			24969	protein-coding gene	gene with protein product		607072	tumor suppressor candidate 4	TUSC4	NA	11085536	Standard	NM_006545	NM_006545	NA	Approved	NPR2L, NPR2	uc003daj.1	Q8WTW4	OTTHUMG00000156864	ENST00000232501.3:c.693C>T	3.37:g.50385985G>A		NA	A8K831|Q6FGS2|Q9Y249|Q9Y497	37	CCDS2826.1																																																																																			NPRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346299.1		-	ENST00000232501.3	Silent	SNP	3 : 50385985 - 50385985 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	383	77
TMEM198	130612	broad.mit.edu	37	2	220412347	220412347	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220412347G>A	ENST00000344458.2	+	4	871	c.286G>A	c.(286-288)Gcg>Acg	p.A96T	RP11-256I23.1_ENST00000596829.1_RNA|TMEM198_ENST00000373883.3_Missense_Mutation_p.A96T			Q66K66	TM198_HUMAN	transmembrane protein 198	96	Leu-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGGGGCGAGCGCGGGCATCGC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA	0,4406		0,0,2203	135	132	133		286	4.1	0.8	2		133	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM198	NM_001005209.1	58	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	96/361	220412347	1,13005	2203	4300	6503	SO:0001583	missense			BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760	130612	130612			33704	protein-coding gene	gene with protein product					NA		Standard	NM_001005209	NM_001005209	NA	Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.286G>A	2.37:g.220412347G>A	ENSP00000343507:p.Ala96Thr	NA		37	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871742	0.91587	0.0	1.16E-4	ENSG00000188760	ENST00000344458;ENST00000421791;ENST00000373883	.	.	.	4.05	4.05	0.47172	.	0.071196	0.56097	D	0.000021	T	0.72447	0.3461	M	0.71581	2.175	0.46279	D	0.998965	D	0.67145	0.996	P	0.56163	0.793	T	0.74003	-0.3804	9	0.37606	T	0.19	-26.0437	16.3706	0.83357	0.0:0.0:1.0:0.0	.	96	Q66K66	TM198_HUMAN	T	96	.	ENSP00000343507:A96T	A	+	1	0	TMEM198	220120591	1.000000	0.71417	0.786000	0.31890	0.668000	0.39293	9.472000	0.97709	2.253000	0.74438	0.591000	0.81541	GCG	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131063.1		+	ENST00000344458.2	Missense_Mutation	SNP	2 : 220412347 - 220412347 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1369	219
BRD1	23774	broad.mit.edu	37	22	50181041	50181041	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50181041C>T	ENST00000216267.8	-	7	2947	c.2461G>A	c.(2461-2463)Gca>Aca	p.A821T	BRD1_ENST00000404034.1_Missense_Mutation_p.A821T|BRD1_ENST00000404760.1_Missense_Mutation_p.A952T|BRD1_ENST00000542442.1_Missense_Mutation_p.A509T|BRD1_ENST00000457780.2_Silent_p.T924T|BRD1_ENST00000342989.5_Missense_Mutation_p.A547T	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	821					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CATTTACCTGCGTCCAGGCGC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	52	51			NA	NA	22		NA											NA				50181041		2203	4300	6503	SO:0001583	missense			AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425	23774	23774			1102	protein-coding gene	gene with protein product	BR140-like	604589	bromodomain-containing 1		NA	10591208, 10602503	Standard	NM_014577	NM_014577	NA	Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.2461G>A	22.37:g.50181041C>T	ENSP00000216267:p.Ala821Thr	NA	A6ZJA4	37	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	C	5.178	0.218460	0.09810	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14	5.39	3.26	0.37387	.	0.255709	0.44285	N	0.000467	T	0.03871	0.0109	N	0.00170	-1.935	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.25916	-1.0118	10	0.09338	T	0.73	.	9.0563	0.36408	0.0:0.1532:0.0:0.8468	.	952;547;821;952	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	T	821;821;952;509;547;412	ENSP00000216267:A821T;ENSP00000384076:A821T;ENSP00000385858:A952T;ENSP00000437514:A509T;ENSP00000345886:A547T	ENSP00000216267:A821T	A	-	1	0	BRD1	48567045	1.000000	0.71417	0.998000	0.56505	0.825000	0.46686	4.009000	0.57110	0.365000	0.24400	-0.302000	0.09304	GCA	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317402.1		-	ENST00000216267.8	Missense_Mutation	SNP	22 : 50181041 - 50181041 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	384	66
SPATS2	65244	broad.mit.edu	37	12	49893906	49893906	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49893906G>A	ENST00000553127.1	+	10	1270	c.757G>A	c.(757-759)Gca>Aca	p.A253T	SPATS2_ENST00000321898.6_Missense_Mutation_p.A253T|SPATS2_ENST00000552918.1_Missense_Mutation_p.A253T|SPATS2_ENST00000552557.1_3'UTR			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	253						cytoplasm				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						AGTGTCTCTTGCACGGTATCG	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	69	69			NA	NA	12		NA											NA				49893906		2203	4300	6503	SO:0001583	missense			AK023179	CCDS31794.1	12q13.12	2009-06-12					65244	65244			18650	protein-coding gene	gene with protein product		611667			NA	11944913, 17989879	Standard	NM_023071	NM_023071	NA	Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.757G>A	12.37:g.49893906G>A	ENSP00000448228:p.Ala253Thr	NA	A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	37	CCDS31794.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.018060	0.35606	.	.	ENSG00000123352	ENST00000553127;ENST00000321898;ENST00000552918;ENST00000395063	.	.	.	6.08	6.08	0.98989	.	0.091847	0.85682	D	0.000000	T	0.62514	0.2434	L	0.33792	1.035	0.80722	D	1	D	0.57899	0.981	D	0.65874	0.939	T	0.52253	-0.8600	9	0.05721	T	0.95	-16.3228	18.1659	0.89727	0.0:0.0:1.0:0.0	.	253	Q86XZ4	SPAS2_HUMAN	T	253	.	ENSP00000326841:A253T	A	+	1	0	SPATS2	48180173	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.422000	0.59854	2.894000	0.99253	0.591000	0.81541	GCA	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404023.1		+	ENST00000553127.1	Missense_Mutation	SNP	12 : 49893906 - 49893906 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	309	54
GRIN2B	2904	broad.mit.edu	37	12	13828724	13828724	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13828724C>T	ENST00000609686.1	-	4	1289	c.1080G>A	c.(1078-1080)ccG>ccA	p.P360P		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	NA					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCACCAGTTTCGGGTGCATCT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	124	125			NA	NA	12		NA											NA				13828724		2203	4300	6503	SO:0001819	synonymous_variant				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079		2904	2904		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4586	protein-coding gene	gene with protein product		138252		NMDAR2B	NA	1350383	Standard		NM_000834	NA	Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1080G>A	12.37:g.13828724C>T		NA	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	37	CCDS8662.1																																																																																			GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268014.2		-	ENST00000609686.1	Silent	SNP	12 : 13828724 - 13828724 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	485	79
PGM2L1	283209	broad.mit.edu	37	11	74054391	74054391	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74054391A>G	ENST00000298198.4	-	10	1600	c.1289T>C	c.(1288-1290)cTt>cCt	p.L430P		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	430					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					AAATGCAAAAAGGACTTCTTT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	66	66			NA	NA	11		NA											NA				74054391		2200	4292	6492	SO:0001583	missense			AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434	283209	283209			20898	protein-coding gene	gene with protein product	glucose-1,6-bisphosphate synthase	611610			NA	17804405	Standard	NM_173582	NM_173582	NA	Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.1289T>C	11.37:g.74054391A>G	ENSP00000298198:p.Leu430Pro	NA	Q96MQ7|Q9UIK3	37	CCDS8231.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.064889	0.76187	.	.	ENSG00000165434	ENST00000298198	T	0.47177	0.85	5.92	5.92	0.95590	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain III (1);	0.225935	0.37955	N	0.001868	T	0.65428	0.2690	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.65734	-0.6096	10	0.48119	T	0.1	-21.5015	14.3046	0.66377	1.0:0.0:0.0:0.0	.	430	Q6PCE3	PGM2L_HUMAN	P	430	ENSP00000298198:L430P	ENSP00000298198:L430P	L	-	2	0	PGM2L1	73732039	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.255000	0.74692	0.533000	0.62120	CTT	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398324.1		-	ENST00000298198.4	Missense_Mutation	SNP	11 : 74054391 - 74054391 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	392	73
C17orf64	124773	broad.mit.edu	37	17	58506770	58506770	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58506770C>T	ENST00000269127.4	+	5	561	c.477C>T	c.(475-477)gaC>gaT	p.D159D		NM_181707.2	NP_859058.2	Q86WR6	CQ064_HUMAN	chromosome 17 open reading frame 64	159										breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			TGCTGGCCGACCGGGAAGACA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	43	43			NA	NA	17		NA											NA				58506770		2203	4300	6503	SO:0001819	synonymous_variant			BC048806	CCDS32698.2	17q23.2	2005-12-16			ENSG00000141371	ENSG00000141371	124773	124773			26990	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_181707	NM_181707	NA	Approved		uc002iyq.3	Q86WR6	OTTHUMG00000157171	ENST00000269127.4:c.477C>T	17.37:g.58506770C>T		NA	Q8IY87	37	CCDS32698.2																																																																																			C17orf64-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347743.1		+	ENST00000269127.4	Silent	SNP	17 : 58506770 - 58506770 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	204	53
VPS4B	9525	broad.mit.edu	37	18	61058275	61058275	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61058275G>T	ENST00000238497.5	-	11	1471	c.1268C>A	c.(1267-1269)cCt>cAt	p.P423H		NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	423					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						ATTGACTGTAGGTTTTGTGTT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	119	122			NA	NA	18		NA											NA				61058275		2203	4300	6503	SO:0001583	missense			AF038960	CCDS11983.1	18q21.33	2010-04-21	2006-04-04	2002-06-14	ENSG00000119541	ENSG00000119541	9525	9525		ATPases / AAA-type	10895	protein-coding gene	gene with protein product		609983	suppressor of K+ transport defect 1, vacuolar protein sorting 4B (yeast)	SKD1	NA	11563910	Standard	NM_004869	XM_006722582	NA	Approved	VPS4-2, SKD1B	uc002lix.3	O75351	OTTHUMG00000132790	ENST00000238497.5:c.1268C>A	18.37:g.61058275G>T	ENSP00000238497:p.Pro423His	NA	Q69HW4|Q9GZS7	37	CCDS11983.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.007448	0.93287	.	.	ENSG00000119541	ENST00000238497	D	0.95377	-3.69	5.78	5.78	0.91487	Vps4 oligomerisation, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98592	0.9529	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99177	1.0866	10	0.87932	D	0	-6.5659	20.0203	0.97492	0.0:0.0:1.0:0.0	.	423	O75351	VPS4B_HUMAN	H	423	ENSP00000238497:P423H	ENSP00000238497:P423H	P	-	2	0	VPS4B	59209255	1.000000	0.71417	0.972000	0.41901	0.989000	0.77384	9.835000	0.99442	2.730000	0.93505	0.655000	0.94253	CCT	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256198.2		-	ENST00000238497.5	Missense_Mutation	SNP	18 : 61058275 - 61058275 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	238	40
INSRR	3645	broad.mit.edu	37	1	156819222	156819222	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156819222C>T	ENST00000368195.3	-	6	1656	c.1260G>A	c.(1258-1260)caG>caA	p.Q420Q	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	420					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTTGTAGGTTCTGGTTGTCCA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	76	75			NA	NA	1		NA											NA				156819222		2203	4300	6503	SO:0001819	synonymous_variant			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644	3645	3645		Fibronectin type III domain containing	6093	protein-coding gene	gene with protein product		147671			NA	2768234, 2249481	Standard	NM_014215	NM_014215	NA	Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.1260G>A	1.37:g.156819222C>T		NA	O60724|Q5VZS3	37	CCDS1160.1																																																																																			INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000098929.1		-	ENST00000368195.3	Silent	SNP	1 : 156819222 - 156819222 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	713	29
HACE1	57531	broad.mit.edu	37	6	105198346	105198346	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:105198346G>A	ENST00000262903.4	-	20	2489	c.2213C>T	c.(2212-2214)gCg>gTg	p.A738V	HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Splice_Site_p.A523V	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	738	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		GACGTACTCCGCCTGTTGAAA	0.338		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	82	75	78		2213	4.1	1	6		78	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice	HACE1	NM_020771.3	64	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	738/910	105198346	1,13005	2203	4300	6503	SO:0001630	splice_region_variant			BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382	57531	57531		Ankyrin repeat domain containing	21033	protein-coding gene	gene with protein product		610876			NA	10718198	Standard	XM_045095	NM_020771	NA	Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.2212-1C>T	6.37:g.105198346G>A		NA	Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	37	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.001598	0.35320	0.0	1.16E-4	ENSG00000085382	ENST00000262903;ENST00000369125	T;T	0.58358	0.34;0.34	5.0	4.11	0.48088	HECT (4);	0.104471	0.64402	D	0.000004	T	0.27205	0.0667	N	0.21545	0.675	0.28259	N	0.924912	P;B;D;D	0.56035	0.67;0.318;0.974;0.968	P;B;P;B	0.46917	0.531;0.083;0.469;0.339	T	0.09684	-1.0663	10	0.27082	T	0.32	.	14.9715	0.71238	0.0:0.0:0.8559:0.1441	.	523;227;738;391	E9PGP0;B4DFM6;Q8IYU2;Q8IYU2-3	.;.;HACE1_HUMAN;.	V	738;523	ENSP00000262903:A738V;ENSP00000358121:A523V	ENSP00000262903:A738V	A	-	2	0	HACE1	105305039	1.000000	0.71417	0.983000	0.44433	0.822000	0.46500	6.021000	0.70832	1.196000	0.43129	0.563000	0.77884	GCG	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041643.2	Missense_Mutation	-	ENST00000262903.4	Splice_Site	SNP	6 : 105198346 - 105198346 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	212	41
RCOR1	23186	broad.mit.edu	37	14	103174849	103174849	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103174849G>A	ENST00000262241.6	+	6	934	c.708G>A	c.(706-708)tgG>tgA	p.W236*	RCOR1_ENST00000570597.1_Nonsense_Mutation_p.W233*	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	233	Interaction with HDAC1.|SANT 1.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						ACTATTCTTGGAAGAAGACGA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	172	166			NA	NA	14		NA											NA				103174849		2203	4300	6503	SO:0001587	stop_gained			AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902	23186	23186			17441	protein-coding gene	gene with protein product		607675	REST corepressor	RCOR	NA	10449787	Standard	NM_015156	NM_015156	NA	Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000262241.6:c.708G>A	14.37:g.103174849G>A	ENSP00000262241:p.Trp236*	NA	Q15044|Q6P2I9|Q86VG5	37	CCDS9974.2	.	.	.	.	.	.	.	.	.	.	G	39	7.449281	0.98292	.	.	ENSG00000089902	ENST00000262241	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.9651	20.2279	0.98344	0.0:0.0:1.0:0.0	.	.	.	.	X	233	.	ENSP00000262241:W233X	W	+	3	0	RCOR1	102244602	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.441000	0.97557	2.778000	0.95560	0.655000	0.94253	TGG	RCOR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415058.3		+	ENST00000262241.6	Nonsense_Mutation	SNP	14 : 103174849 - 103174849 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1301	285
TMEM63B	55362	broad.mit.edu	37	6	44116249	44116249	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44116249G>T	ENST00000259746.9	+	14	1304		c.e14-1		TMEM63B_ENST00000323267.6_Splice_Site			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	NA						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CATCTTTCTAGCATCCTGAAG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	96	99			NA	NA	6		NA											NA				44116249		2203	4300	6503	SO:0001630	splice_region_variant			BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216	55362	55362			17735	protein-coding gene	gene with protein product			chromosome 6 open reading frame 110	C6orf110	NA		Standard	XM_166410	XM_005249211	NA	Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.1122-1G>T	6.37:g.44116249G>T		NA	B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	37	CCDS34461.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153572	0.57259	.	.	ENSG00000137216	ENST00000259746;ENST00000323267;ENST00000371893	.	.	.	4.38	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1371	0.81494	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM63B	44224227	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	7.663000	0.83820	2.280000	0.76307	0.563000	0.77884	.	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040712.2	Intron	+	ENST00000259746.9	Splice_Site	SNP	6 : 44116249 - 44116249 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	623	103
NOMO1	23420	broad.mit.edu	37	16	14989432	14989432	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14989432C>T	ENST00000287667.7	+	31	3770	c.3599C>T	c.(3598-3600)gCa>gTa	p.A1200V		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1200						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CTCGGCCAGGCAGCCTCTGAC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													253	319	297			NA	NA	16		NA											NA				14989432		2193	4298	6491	SO:0001583	missense			X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512	23420	23420			30060	protein-coding gene	gene with protein product		609157			NA	1310294, 15257293	Standard		NM_014287	NA	Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.3599C>T	16.37:g.14989432C>T	ENSP00000287667:p.Ala1200Val	NA	P78421|Q8IW21|Q96DG0	37	CCDS10556.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303128	0.40795	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.54479	0.57	2.99	2.99	0.34606	.	0.210335	0.41605	D	0.000860	T	0.45316	0.1336	L	0.50333	1.59	0.46376	D	0.999016	B	0.02656	0.0	B	0.04013	0.001	T	0.48790	-0.9004	10	0.48119	T	0.1	-1.1936	11.8153	0.52207	0.0:1.0:0.0:0.0	.	1200	Q15155	NOMO1_HUMAN	V	1200;1200;1033	ENSP00000287667:A1200V	ENSP00000287667:A1200V	A	+	2	0	NOMO1	14896933	0.998000	0.40836	0.998000	0.56505	0.569000	0.35902	3.900000	0.56295	1.681000	0.50988	0.384000	0.25694	GCA	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207065.1		+	ENST00000287667.7	Missense_Mutation	SNP	16 : 14989432 - 14989432 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2938	271
COPA	1314	broad.mit.edu	37	1	160261125	160261125	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160261125C>A	ENST00000241704.7	-	31	3649	c.3420G>T	c.(3418-3420)caG>caT	p.Q1140H	COPA_ENST00000368069.3_Splice_Site_p.Q1149H	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1140					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTCCATCTACCTGTTGGGCCA	0.517		NA									OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	97	97			NA	NA	1		NA											NA				160261125		2203	4300	6503	SO:0001630	splice_region_variant			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218	1314	1314		WD repeat domain containing, Endogenous ligands	2230	protein-coding gene	gene with protein product	proxenin, xenin	601924			NA	8647451	Standard	NM_004371	NM_004371	NA	Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.3420+1G>T	1.37:g.160261125C>A		1807	Q5T201|Q8IXZ9	37	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.551477	0.86127	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.48836	0.8;0.8	5.96	5.96	0.96718	Coatomer, alpha subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71913	0.3396	M	0.92219	3.285	0.80722	D	1	D;D	0.69078	0.995;0.997	P;D	0.64042	0.871;0.921	T	0.77749	-0.2471	9	.	.	.	-19.816	18.983	0.92761	0.0:1.0:0.0:0.0	.	1140;1149	P53621;P53621-2	COPA_HUMAN;.	H	1149;1140	ENSP00000357048:Q1149H;ENSP00000241704:Q1140H	.	Q	-	3	2	COPA	158527749	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	7.120000	0.77153	2.831000	0.97527	0.650000	0.86243	CAG	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080638.1	Missense_Mutation	-	ENST00000241704.7	Splice_Site	SNP	1 : 160261125 - 160261125 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	705	185
CTD-2369P2.10	0	broad.mit.edu	37	19	10426620	10426620	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10426620G>T	ENST00000452032.2	-	1	65	c.53C>A	c.(52-54)gCt>gAt	p.A18D	FDX1L_ENST00000494368.1_Intron|CTD-2369P2.12_ENST00000586529.1_Intron|FDX1L_ENST00000541276.1_Missense_Mutation_p.A21D|FDX1L_ENST00000393708.3_Missense_Mutation_p.A18D						NA											NA						GCCCCTGGCAGCCTGCAGTAG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	22	21			NA	NA	19		NA											NA				10426620		2201	4297	6498	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000452032.2:c.53C>A	19.37:g.10426620G>T	ENSP00000408510:p.Ala18Asp	NA		37		.	.	.	.	.	.	.	.	.	.	G	14.37	2.516593	0.44763	.	.	ENSG00000167807	ENST00000541276;ENST00000393708	.	.	.	4.96	1.4	0.22301	.	0.586463	0.17006	N	0.190700	T	0.24198	0.0586	L	0.27053	0.805	0.24098	N	0.995884	P	0.38195	0.622	B	0.38803	0.282	T	0.11767	-1.0574	9	0.72032	D	0.01	-12.6227	7.0513	0.25075	0.3305:0.0:0.6695:0.0	.	18	Q6P4F2	ADXL_HUMAN	D	21;18	.	ENSP00000341665:A18D	A	-	2	0	FDX1L	10287620	0.003000	0.15002	0.033000	0.17914	0.004000	0.04260	1.150000	0.31639	0.420000	0.25954	0.462000	0.41574	GCT	CTD-2369P2.10-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000451222.1		-	ENST00000452032.2	Missense_Mutation	SNP	19 : 10426620 - 10426620 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	178	35
FAM155A	728215	broad.mit.edu	37	13	108518818	108518818	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108518818C>T	ENST00000375915.2	-	1	265	c.127G>A	c.(127-129)Gca>Aca	p.A43T		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	43						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						AAGAGAGATGCCAGAGACAGT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	155	152			NA	NA	13		NA											NA				108518818		2203	4300	6503	SO:0001583	missense			L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442	728215	728215			33877	protein-coding gene	gene with protein product					NA		Standard	NM_001080396	NM_001080396	NA	Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.127G>A	13.37:g.108518818C>T	ENSP00000365080:p.Ala43Thr	NA	B2RUV1|B7Z334	37	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.719839	0.89205	.	.	ENSG00000204442	ENST00000375915	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.75265	0.3826	L	0.50333	1.59	0.53688	D	0.999971	D	0.76494	0.999	D	0.80764	0.994	T	0.77874	-0.2425	9	0.87932	D	0	.	17.5823	0.87972	0.0:1.0:0.0:0.0	.	43	B1AL88	F155A_HUMAN	T	43	.	ENSP00000365080:A43T	A	-	1	0	FAM155A	107316819	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.215000	0.77966	2.390000	0.81377	0.650000	0.86243	GCA	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045736.2		-	ENST00000375915.2	Missense_Mutation	SNP	13 : 108518818 - 108518818 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1176	181
HAS3	3038	broad.mit.edu	37	16	69148647	69148647	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69148647C>A	ENST00000306560.1	+	4	1296	c.1140C>A	c.(1138-1140)acC>acA	p.T380T	HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Silent_p.T380T	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	380					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TCTGGATGACCTACGAGTCAG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	129	136			NA	NA	16		NA											NA				69148647		2198	4300	6498	SO:0001819	synonymous_variant			BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	3038	3038	2.4.1.212	Glycosyltransferase family 2 domain containing	4820	protein-coding gene	gene with protein product		602428			NA	9169154, 9083017	Standard	NM_138612	NM_005329	NA	Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.1140C>A	16.37:g.69148647C>A		NA	A8K5T5|Q9NYP0	37	CCDS10871.1																																																																																			HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268898.2		+	ENST00000306560.1	Silent	SNP	16 : 69148647 - 69148647 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	596	154
ACACB	32	broad.mit.edu	37	12	109604757	109604757	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109604757G>A	ENST00000338432.7	+	3	864	c.745G>A	c.(745-747)Gag>Aag	p.E249K	ACACB_ENST00000377854.5_Missense_Mutation_p.E249K|ACACB_ENST00000377848.3_Missense_Mutation_p.E249K			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	249					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TTCTCCCGCTGAGTTTGTCAC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	75	77			NA	NA	12		NA											NA				109604757		2203	4300	6503	SO:0001583	missense			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	32	32	6.4.1.2		85	protein-coding gene	gene with protein product	acetyl-CoA carboxylase 2	601557	acetyl-Coenzyme A carboxylase beta		NA	8670171	Standard	NM_001093	NM_001093	NA	Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.745G>A	12.37:g.109604757G>A	ENSP00000341044:p.Glu249Lys	NA	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	36	5.794786	0.96952	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	T;T;T	0.17370	2.28;2.28;2.28	5.55	5.55	0.83447	PreATP-grasp-like fold (1);	0.000000	0.85682	D	0.000000	T	0.38772	0.1053	M	0.86953	2.85	0.80722	D	1	P	0.38922	0.651	P	0.45506	0.483	T	0.39742	-0.9599	10	0.87932	D	0	.	19.1106	0.93315	0.0:0.0:1.0:0.0	.	249	O00763	ACACB_HUMAN	K	249	ENSP00000341044:E249K;ENSP00000367079:E249K;ENSP00000367085:E249K	ENSP00000341044:E249K	E	+	1	0	ACACB	108089140	1.000000	0.71417	0.978000	0.43139	0.797000	0.45037	7.933000	0.87642	2.596000	0.87737	0.591000	0.81541	GAG	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403077.1		+	ENST00000338432.7	Missense_Mutation	SNP	12 : 109604757 - 109604757 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	434	67
STXBP5	134957	broad.mit.edu	37	6	147684474	147684474	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147684474C>T	ENST00000367481.3	+	22	2549	c.2441C>T	c.(2440-2442)aCt>aTt	p.T814I	STXBP5_ENST00000179882.6_Missense_Mutation_p.T505I|STXBP5_ENST00000321680.6_Missense_Mutation_p.T850I|STXBP5_ENST00000367480.3_Missense_Mutation_p.T797I	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	850					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		ATTTTAGGTACTATATTGAGG	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	37	36			NA	NA	6		NA											NA				147684474		2200	4298	6498	SO:0001583	missense			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506	NA	134957		WD repeat domain containing	19665	protein-coding gene	gene with protein product		604586			NA	9620695, 14767561	Standard		NM_139244	NA	Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000367481.3:c.2441C>T	6.37:g.147684474C>T	ENSP00000356451:p.Thr814Ile	NA	Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	37	CCDS5211.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066018	0.55539	.	.	ENSG00000164506	ENST00000367479;ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882;ENST00000392291	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	5.79	5.79	0.91817	.	0.101850	0.64402	D	0.000003	T	0.20740	0.0499	M	0.65975	2.015	0.58432	D	0.999999	P;P;P	0.36222	0.465;0.544;0.544	B;B;B	0.34242	0.178;0.086;0.162	T	0.02411	-1.1163	10	0.35671	T	0.21	.	20.0313	0.97540	0.0:1.0:0.0:0.0	.	814;850;505	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	I	189;814;850;797;505;174	ENSP00000356451:T814I;ENSP00000321826:T850I;ENSP00000356450:T797I;ENSP00000179882:T505I;ENSP00000376112:T174I	ENSP00000179882:T505I	T	+	2	0	STXBP5	147726167	0.999000	0.42202	1.000000	0.80357	0.989000	0.77384	3.744000	0.55112	2.746000	0.94184	0.655000	0.94253	ACT	STXBP5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042605.1		+	ENST00000367481.3	Missense_Mutation	SNP	6 : 147684474 - 147684474 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	232	43
NR1H3	10062	broad.mit.edu	37	11	47281365	47281365	+	Missense_Mutation	SNP	C	C	T	rs139438525		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47281365C>T	ENST00000467728.1	+	2	1305	c.67C>T	c.(67-69)Cca>Tca	p.P23S	NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000441012.2_Missense_Mutation_p.P23S|NR1H3_ENST00000395397.3_5'UTR|NR1H3_ENST00000405853.3_Missense_Mutation_p.P23S|NR1H3_ENST00000407404.1_Missense_Mutation_p.P23S|NR1H3_ENST00000405576.1_5'UTR|NR1H3_ENST00000481889.2_5'UTR			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	23					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						GCTGTGGAAGCCAGGCGCACA	0.652		NA									OREG0020956	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	36	36			NA	NA	11		NA											NA				47281365		2201	4298	6499	SO:0001583	missense			U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434	10062	10062		Nuclear hormone receptors	7966	protein-coding gene	gene with protein product	liver X receptor-alpha	602423			NA	8621574, 7744246	Standard		NM_005693	NA	Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.67C>T	11.37:g.47281365C>T	ENSP00000420656:p.Pro23Ser	945	A8K3J9|D3DQR1|Q96H87	37	CCDS7929.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.321402	0.23994	.	.	ENSG00000025434	ENST00000436778;ENST00000407404;ENST00000444396;ENST00000457932;ENST00000449369;ENST00000441012;ENST00000437276;ENST00000436029;ENST00000467728;ENST00000405853	T;T;T;T;T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05	5.66	0.0326	0.14176	.	0.500830	0.18336	N	0.144325	T	0.16685	0.0401	N	0.08118	0	0.27865	N	0.940246	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.08330	-1.0727	10	0.34782	T	0.22	.	2.013	0.03492	0.1397:0.3331:0.344:0.1831	.	29;23;23	B4DXU5;Q13133;Q13133-2	.;NR1H3_HUMAN;.	S	23	ENSP00000403798:P23S;ENSP00000385801:P23S;ENSP00000391005:P23S;ENSP00000413095:P23S;ENSP00000415591:P23S;ENSP00000387946:P23S;ENSP00000396132:P23S;ENSP00000403696:P23S;ENSP00000420656:P23S;ENSP00000384745:P23S	ENSP00000384745:P23S	P	+	1	0	NR1H3	47237941	0.049000	0.20398	0.280000	0.24747	0.467000	0.32768	-0.834000	0.04391	0.027000	0.15297	0.462000	0.41574	CCA	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319214.3		+	ENST00000467728.1	Missense_Mutation	SNP	11 : 47281365 - 47281365 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	329	47
LECT1	11061	broad.mit.edu	37	13	53282672	53282672	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53282672T>C	ENST00000448904.2	-	6	898	c.788A>G	c.(787-789)cAt>cGt	p.H263R	LECT1_ENST00000377962.3_Splice_Site_p.H263R	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	263					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		GGAACGCACATGATAAGGATT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	148	157			NA	NA	13		NA											NA				53282672		2203	4300	6503	SO:0001630	splice_region_variant			AB006000	CCDS9437.1, CCDS45051.1	13q14.3	2012-10-10			ENSG00000136110	ENSG00000136110	11061	11061		BRICHOS domain containing	17005	protein-coding gene	gene with protein product	BRICHOS domain containing 3	605147	multiple myeloma tumor suppressor 1	MYETS1	NA	9731231, 10103018	Standard		XM_006719760	NA	Approved	CHM-I, CHM1, chondromodulin, BRICD3	uc001vhf.2	O75829	OTTHUMG00000016980	ENST00000448904.2:c.789+1A>G	13.37:g.53282672T>C		NA	Q5TAM4|Q8TAY6|Q9UM18	37	CCDS45051.1	.	.	.	.	.	.	.	.	.	.	T	8.299	0.819505	0.16607	.	.	ENSG00000136110	ENST00000448904;ENST00000377962	T;T	0.28666	1.61;1.6	5.06	5.06	0.68205	.	0.094720	0.64402	D	0.000001	T	0.39886	0.1095	M	0.64997	1.995	0.49051	D	0.999742	P;P	0.41848	0.763;0.651	P;B	0.44990	0.466;0.276	T	0.37502	-0.9703	10	0.66056	D	0.02	.	15.114	0.72384	0.0:0.0:0.0:1.0	.	263;263	O75829-2;O75829	.;LECT1_HUMAN	R	263	ENSP00000388576:H263R;ENSP00000367198:H263R	ENSP00000367198:H263R	H	-	2	0	LECT1	52180673	1.000000	0.71417	0.998000	0.56505	0.042000	0.13812	5.407000	0.66363	2.044000	0.60594	0.454000	0.30748	CAT	LECT1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393667.1	Missense_Mutation	-	ENST00000448904.2	Splice_Site	SNP	13 : 53282672 - 53282672 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	304	49
LTBP4	8425	broad.mit.edu	37	19	41119858	41119858	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41119858G>A	ENST00000602240.1	+	0	2684				LTBP4_ENST00000243562.9_Missense_Mutation_p.S30N|LTBP4_ENST00000396819.3_Missense_Mutation_p.S865N|LTBP4_ENST00000204005.9_Missense_Mutation_p.S895N|LTBP4_ENST00000545697.1_Missense_Mutation_p.S385N|LTBP4_ENST00000308370.7_Missense_Mutation_p.S932N			Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	NA					growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTTTGCCAGAGCGGCATCTGT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	42	40			NA	NA	19		NA											NA				41119858		2066	4197	6263	SO:0001624	3_prime_UTR_variant			Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006	8425	8425		Latent transforming growth factor, beta binding proteins	6717	protein-coding gene	gene with protein product		604710			NA	9660815, 9271198	Standard	NM_003573	NM_003573	NA	Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000602240.1:c.*2681G>A	19.37:g.41119858G>A		NA	O00508|O75412|O75413	37		.	.	.	.	.	.	.	.	.	.	G	13.71	2.319803	0.41096	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000243562	D;D;D;D;D	0.95588	-2.93;-2.93;-2.93;-2.93;-3.75	4.61	3.58	0.41010	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.165873	0.29846	N	0.011060	D	0.84880	0.5570	N	0.02225	-0.63	0.80722	D	1	B;P;P;B;P	0.36837	0.0;0.571;0.51;0.259;0.51	B;B;B;B;B	0.38803	0.004;0.213;0.229;0.229;0.282	T	0.81342	-0.0976	10	0.12430	T	0.62	.	8.3198	0.32121	0.1852:0.0:0.8148:0.0	.	30;152;865;932;895	Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;LTBP4_HUMAN;.	N	895;385;932;865;30	ENSP00000204005:S895N;ENSP00000441054:S385N;ENSP00000311905:S932N;ENSP00000380031:S865N;ENSP00000243562:S30N	ENSP00000204005:S895N	S	+	2	0	LTBP4	45811698	0.343000	0.24818	1.000000	0.80357	0.994000	0.84299	3.480000	0.53172	1.175000	0.42826	0.462000	0.41574	AGC	LTBP4-002	KNOWN	sequence_error|basic	processed_transcript	NA	protein_coding	OTTHUMT00000462815.2		+	ENST00000602240.1	3'UTR	SNP	19 : 41119858 - 41119858 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	192	43
BCAN	63827	broad.mit.edu	37	1	156618630	156618630	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156618630G>A	ENST00000329117.5	+	6	1376	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	BCAN_ENST00000361588.5_Missense_Mutation_p.R347H|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	NA	Link 2.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAGCACAGCCGCTTCAACGTC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	87	86			NA	NA	1		NA											NA				156618630		2203	4299	6502	SO:0001583	missense			BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692	63827	63827		Immunoglobulin superfamily / V-set domain containing, Proteoglycans / Extracellular Matrix : Hyalectans	23059	protein-coding gene	gene with protein product	chondroitin sulfate proteoglycan 7, brevican proteoglycan	600347			NA	11054543, 11873941	Standard	NM_021948	NM_021948	NA	Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1040G>A	1.37:g.156618630G>A	ENSP00000331210:p.Arg347His	NA	D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	37	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480788	0.84747	.	.	ENSG00000132692	ENST00000255029;ENST00000329117;ENST00000361588	T;T	0.12465	2.68;2.68	4.72	4.72	0.59763	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.102141	0.41194	D	0.000921	T	0.23532	0.0569	M	0.67517	2.055	0.51482	D	0.999921	D;D	0.89917	1.0;0.99	D;P	0.79108	0.992;0.86	T	0.00605	-1.1648	10	0.87932	D	0	-17.4487	10.0728	0.42343	0.093:0.0:0.907:0.0	.	347;347	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	H	288;347;347	ENSP00000331210:R347H;ENSP00000354925:R347H	ENSP00000255029:R288H	R	+	2	0	BCAN	154885254	0.780000	0.28664	1.000000	0.80357	0.984000	0.73092	3.661000	0.54503	2.453000	0.82957	0.462000	0.41574	CGC	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000081844.2		+	ENST00000329117.5	Missense_Mutation	SNP	1 : 156618630 - 156618630 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	681	238
LAMB2	3913	broad.mit.edu	37	3	49167044	49167044	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49167044C>T	ENST00000418109.1	-	12	1675	c.1511G>A	c.(1510-1512)cGc>cAc	p.R504H	LAMB2_ENST00000305544.4_Missense_Mutation_p.R504H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	504	Laminin EGF-like 4.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACCAGGCAGCGGTCACATCC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	90	92			NA	NA	3		NA											NA				49167044		2203	4300	6503	SO:0001583	missense				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037	3913	3913		Laminins	6487	protein-coding gene	gene with protein product	laminin S	150325		LAMS	NA	2922051, 10393422	Standard	NM_002292	NM_002292	NA	Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.1511G>A	3.37:g.49167044C>T	ENSP00000388325:p.Arg504His	NA	Q16321	37	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045624	0.36085	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.64260	-0.09;-0.09	5.3	-3.26	0.05064	EGF-like, laminin (4);	0.497453	0.21653	N	0.071147	T	0.52419	0.1733	M	0.65975	2.015	0.36992	D	0.894853	B	0.11235	0.004	B	0.06405	0.002	T	0.30090	-0.9990	10	0.51188	T	0.08	.	8.3145	0.32091	0.1225:0.1971:0.0:0.6805	.	504	P55268	LAMB2_HUMAN	H	504	ENSP00000388325:R504H;ENSP00000307156:R504H	ENSP00000307156:R504H	R	-	2	0	LAMB2	49142048	0.889000	0.30405	0.449000	0.26957	0.681000	0.39784	0.853000	0.27777	-0.824000	0.04295	-0.345000	0.07892	CGC	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345939.1		-	ENST00000418109.1	Missense_Mutation	SNP	3 : 49167044 - 49167044 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	260	45
GSG1L	146395	broad.mit.edu	37	16	27818817	27818817	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27818817A>T	ENST00000447459.2	-	6	973	c.889T>A	c.(889-891)Tac>Aac	p.Y297N	GSG1L_ENST00000380898.2_Missense_Mutation_p.Y160N|GSG1L_ENST00000380897.3_Missense_Mutation_p.Y142N|GSG1L_ENST00000569166.1_Missense_Mutation_p.Y160N|GSG1L_ENST00000395724.3_Missense_Mutation_p.Y246N	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like	297						integral to membrane				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						CGGGCAGGGTATCTCTCGTGG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	63	69			NA	NA	16		NA											NA				27818817		2196	4300	6496	SO:0001583	missense			AK128775	CCDS10631.1, CCDS45450.1	16p11.2	2014-01-20			ENSG00000169181	ENSG00000169181	146395	146395			28283	protein-coding gene	gene with protein product					NA	22813734	Standard	NM_144675	NM_001109763	NA	Approved	MGC18079, PRO19651, KTSR5831	uc002doz.2	Q6UXU4	OTTHUMG00000131676	ENST00000447459.2:c.889T>A	16.37:g.27818817A>T	ENSP00000394954:p.Tyr297Asn	NA	Q7Z6F8|Q8TB81	37	CCDS45450.1	.	.	.	.	.	.	.	.	.	.	A	10.78	1.447450	0.25987	.	.	ENSG00000169181	ENST00000447459;ENST00000395724;ENST00000380898;ENST00000380897	T;T	0.39056	1.2;1.1	3.81	2.71	0.32032	.	0.845752	0.10437	N	0.674780	T	0.32585	0.0834	N	0.19112	0.55	0.29055	N	0.884258	P;P;P	0.50528	0.936;0.891;0.808	P;P;B	0.48227	0.534;0.571;0.212	T	0.14117	-1.0484	10	0.45353	T	0.12	.	6.0671	0.19870	0.8844:0.0:0.1156:0.0	.	246;160;297	Q6UXU4-3;Q6UXU4-4;Q6UXU4	.;.;GSG1L_HUMAN	N	297;246;160;142	ENSP00000394954:Y297N;ENSP00000379074:Y246N	ENSP00000370282:Y142N	Y	-	1	0	GSG1L	27726318	1.000000	0.71417	0.847000	0.33407	0.620000	0.37586	1.654000	0.37334	0.816000	0.34421	0.459000	0.35465	TAC	GSG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000433832.2		-	ENST00000447459.2	Missense_Mutation	SNP	16 : 27818817 - 27818817 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	144	25
NOTCH2	4853	broad.mit.edu	37	1	120458178	120458178	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120458178C>T	ENST00000256646.2	-	34	7386	c.7167G>A	c.(7165-7167)caG>caA	p.Q2389Q		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2389					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATAACTGTGCTGTGAAGGGG	0.582		NA	N, F, Mis		marginal zone lymphoma, DLBCL				Alagille Syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													118	105	109			NA	NA	1		NA											NA				120458178		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250	4853	4853		Ankyrin repeat domain containing	7882	protein-coding gene	gene with protein product		600275	Notch (Drosophila) homolog 2, Notch homolog 2 (Drosophila)		NA	7698746	Standard	NM_024408	NM_001200001	NA	Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.7167G>A	1.37:g.120458178C>T		NA	Q5T3X7|Q99734|Q9H240	37	CCDS908.1																																																																																			NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033679.1		-	ENST00000256646.2	Silent	SNP	1 : 120458178 - 120458178 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	504	64
DNAH8	1769	broad.mit.edu	37	6	38783391	38783391	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38783391G>A	ENST00000359357.3	+	24	3084	c.2830G>A	c.(2830-2832)Gtg>Atg	p.V944M	DNAH8_ENST00000449981.2_Missense_Mutation_p.V1161M|DNAH8_ENST00000441566.1_Missense_Mutation_p.V944M					dynein, axonemal, heavy chain 8	NA										NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CACTACTGACGTGACCCATCA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	66	71			NA	NA	6		NA											NA				38783391		2203	4300	6503	SO:0001583	missense			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721	1769	1769		Axonemal dyneins	2952	protein-coding gene	gene with protein product		603337	dynein, axonemal, heavy polypeptide 8		NA	9373155	Standard	NM_001206927	NM_001206927	NA	Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.2830G>A	6.37:g.38783391G>A	ENSP00000352312:p.Val944Met	NA		37		.	.	.	.	.	.	.	.	.	.	G	8.767	0.925106	0.18056	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.25749	1.82;1.81;1.78	5.01	-9.35	0.00633	.	2.459610	0.02175	N	0.060021	T	0.02970	0.0088	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.15752	-1.0426	10	0.39692	T	0.17	.	6.0353	0.19704	0.1949:0.1663:0.5118:0.1269	.	944	Q96JB1	DYH8_HUMAN	M	1149;1149;944;944	ENSP00000333363:V1149M;ENSP00000352312:V944M;ENSP00000402294:V944M	ENSP00000333363:V1149M	V	+	1	0	DNAH8	38891369	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-5.233000	0.00139	-2.059000	0.00894	-0.866000	0.03004	GTG	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000043574.1		+	ENST00000359357.3	Missense_Mutation	SNP	6 : 38783391 - 38783391 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	234	51
BRCA1	672	broad.mit.edu	37	17	41246608	41246608	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41246608C>T	ENST00000357654.3	-	10	1058	c.940G>A	c.(940-942)Gca>Aca	p.A314T	BRCA1_ENST00000346315.3_Missense_Mutation_p.A314T|BRCA1_ENST00000309486.4_Missense_Mutation_p.A18T|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.A314T|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.A267T|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.A314T	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	314					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGGCTCCTTGCTAAGCCAGGC	0.418		NA	D, Mis, N, F, S		ovarian	breast, ovarian		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0													162	150	154			NA	NA	17		NA											NA				41246608		2203	4300	6503	SO:0001583	missense	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048	672	672		RING-type (C3HC4) zinc fingers, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	1100	protein-coding gene	gene with protein product	BRCA1/BRCA2-containing complex, subunit 1, protein phosphatase 1, regulatory subunit 53	113705			NA	1676470	Standard	NM_007294	NM_007300	NA	Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.940G>A	17.37:g.41246608C>T	ENSP00000350283:p.Ala314Thr	NA	O15129|Q3LRJ0|Q7KYU9	37	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.689207	0.68271	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795;ENST00000470026;ENST00000477152;ENST00000497488;ENST00000494123	D;D;D;D;D;D;D;D;D;D	0.97710	-2.52;-2.64;-2.62;-3.02;-2.53;-2.64;-3.05;-4.5;-3.2;-2.74	4.73	3.75	0.43078	.	0.110360	0.41097	D	0.000942	D	0.97945	0.9324	M	0.88310	2.945	0.32100	N	0.59068	D;D;P;P;P;P	0.53619	0.961;0.961;0.931;0.762;0.864;0.659	P;P;P;P;P;P	0.49332	0.541;0.541;0.566;0.542;0.521;0.607	D	0.98633	1.0672	10	0.66056	D	0.02	.	13.7087	0.62654	0.0:0.8457:0.1543:0.0	.	314;273;314;314;314;314	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	T	314;314;314;314;18;314;267;314;288;18;314	ENSP00000350283:A314T;ENSP00000326002:A314T;ENSP00000246907:A314T;ENSP00000310938:A18T;ENSP00000418960:A314T;ENSP00000418775:A267T;ENSP00000419274:A314T;ENSP00000419988:A288T;ENSP00000418986:A18T;ENSP00000419103:A314T	ENSP00000310938:A18T	A	-	1	0	BRCA1	38500134	0.012000	0.17670	1.000000	0.80357	0.986000	0.74619	0.149000	0.16243	1.338000	0.45544	0.655000	0.94253	GCA	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348798.2		-	ENST00000357654.3	Missense_Mutation	SNP	17 : 41246608 - 41246608 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	689	117
KRT1	3848	broad.mit.edu	37	12	53069496	53069496	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53069496A>G	ENST00000252244.3	-	8	1566	c.1508T>C	c.(1507-1509)gTg>gCg	p.V503A		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	503	Gly/Ser-rich.|Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GTACTTACACACACTCACGTT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	104	109			NA	NA	12		NA											NA				53069496		2203	4300	6503	SO:0001583	missense			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768	3848	3848		-, Intermediate filaments type II, keratins (basic)	6412	protein-coding gene	gene with protein product		139350	epidermolytic hyperkeratosis 1	EHK1	NA	2461420, 2470667, 16831889	Standard	NM_006121	NM_006121	NA	Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1508T>C	12.37:g.53069496A>G	ENSP00000252244:p.Val503Ala	NA	B2RA01|Q14720|Q6GSJ0|Q9H298	37	CCDS8836.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.887959	0.33348	.	.	ENSG00000167768	ENST00000252244	D	0.86030	-2.06	4.55	4.55	0.56014	.	.	.	.	.	T	0.74183	0.3683	N	0.14661	0.345	0.09310	N	1	P	0.34662	0.462	B	0.33960	0.173	T	0.68284	-0.5449	9	0.87932	D	0	.	10.6929	0.45882	0.8572:0.0:0.0:0.1428	.	503	P04264	K2C1_HUMAN	A	503	ENSP00000252244:V503A	ENSP00000252244:V503A	V	-	2	0	KRT1	51355763	0.968000	0.33430	0.754000	0.31244	0.440000	0.31957	3.630000	0.54273	1.812000	0.52913	0.379000	0.24179	GTG	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405706.1		-	ENST00000252244.3	Missense_Mutation	SNP	12 : 53069496 - 53069496 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	593	101
MIP	4284	broad.mit.edu	37	12	56848296	56848296	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56848296C>T	ENST00000257979.4	-	1	130	c.102G>A	c.(100-102)tgG>tgA	p.W34*	MIP_ENST00000555551.1_Intron	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	34					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						GTCCAGGAGCCCAGCGCAGTG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	87	88			NA	NA	12		NA											NA				56848296		2203	4300	6503	SO:0001587	stop_gained				CCDS8919.1	12q13	2012-10-02				ENSG00000135517	4284	4284		Ion channels / Aquaporins	7103	protein-coding gene	gene with protein product	aquaporin 0	154050			NA	1840563, 7536742	Standard	NM_012064	NM_012064	NA	Approved	MP26, LIM1, AQP0	uc001slh.3	P30301		ENST00000257979.4:c.102G>A	12.37:g.56848296C>T	ENSP00000257979:p.Trp34*	NA	Q17R41	37	CCDS8919.1	.	.	.	.	.	.	.	.	.	.	C	35	5.430354	0.96150	.	.	ENSG00000135517	ENST00000257979	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.2643	18.1394	0.89634	0.0:1.0:0.0:0.0	.	.	.	.	X	34	.	ENSP00000257979:W34X	W	-	3	0	MIP	55134563	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.086000	0.71352	2.657000	0.90304	0.655000	0.94253	TGG	MIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409620.1		-	ENST00000257979.4	Nonsense_Mutation	SNP	12 : 56848296 - 56848296 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	498	77
ECM1	1893	broad.mit.edu	37	1	150485713	150485713	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150485713A>C	ENST00000369047.4	+	10	1518	c.1393A>C	c.(1393-1395)Aaa>Caa	p.K465Q	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Splice_Site_p.K340Q|ECM1_ENST00000369049.4_Splice_Site_p.K492Q	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	465					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CATTCATCAGAAATTAACCTT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(156;1696 2560 11093 19685)							NA				0													115	114	114			NA	NA	1		NA											NA				150485713		2203	4300	6503	SO:0001630	splice_region_variant			U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369	1893	1893			3153	protein-coding gene	gene with protein product		602201			NA	9367673, 9501329	Standard	NM_004425	NM_004425	NA	Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.1393-1A>C	1.37:g.150485713A>C		NA	A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	37	CCDS953.1	.	.	.	.	.	.	.	.	.	.	A	18.67	3.674109	0.67928	.	.	ENSG00000143369	ENST00000369049;ENST00000369047;ENST00000346569	T;T;T	0.80653	-1.4;-1.4;-1.4	4.85	4.85	0.62838	.	0.464588	0.22030	N	0.065614	T	0.81148	0.4762	L	0.56769	1.78	0.32759	N	0.505366	D;D;D	0.71674	0.994;0.998;0.987	P;D;P	0.65987	0.869;0.94;0.783	T	0.80763	-0.1237	9	.	.	.	-7.8259	10.7452	0.46177	1.0:0.0:0.0:0.0	.	492;340;465	Q16610-4;Q16610-2;Q16610	.;.;ECM1_HUMAN	Q	492;465;340	ENSP00000358045:K492Q;ENSP00000358043:K465Q;ENSP00000271630:K340Q	.	K	+	1	0	ECM1	148752337	1.000000	0.71417	0.999000	0.59377	0.886000	0.51366	3.947000	0.56652	2.026000	0.59711	0.460000	0.39030	AAA	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000035832.2	Missense_Mutation	+	ENST00000369047.4	Splice_Site	SNP	1 : 150485713 - 150485713 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	419	114
GRIN3B	116444	broad.mit.edu	37	19	1005022	1005022	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1005022C>A	ENST00000234389.3	+	3	1541	c.1522C>A	c.(1522-1524)Ctg>Atg	p.L508M	GRIN3B_ENST00000588335.1_3'UTR	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	508					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GTACGGCGCCCTGCGGGACGG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	23	22			NA	NA	19		NA											NA				1005022		2203	4292	6495	SO:0001583	missense				CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032	116444	116444		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	16768	protein-coding gene	gene with protein product		606651			NA		Standard		XM_003403700	NA	Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1522C>A	19.37:g.1005022C>A	ENSP00000234389:p.Leu508Met	NA	Q5EAK7|Q7RTW9	37	CCDS32861.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.297039	0.40594	.	.	ENSG00000116032	ENST00000234389	T	0.54071	0.59	4.53	3.41	0.39046	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.320202	0.31290	N	0.007919	T	0.50548	0.1622	L	0.28556	0.865	0.26560	N	0.973747	D	0.59357	0.985	P	0.59115	0.852	T	0.35649	-0.9780	10	0.52906	T	0.07	.	6.458	0.21940	0.0:0.7768:0.0:0.2232	.	508	O60391	NMD3B_HUMAN	M	508	ENSP00000234389:L508M	ENSP00000234389:L508M	L	+	1	2	GRIN3B	956022	0.995000	0.38212	0.998000	0.56505	0.557000	0.35523	2.531000	0.45650	2.100000	0.63781	0.485000	0.47835	CTG	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000103923.2		+	ENST00000234389.3	Missense_Mutation	SNP	19 : 1005022 - 1005022 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	311	63
FAM214A	56204	broad.mit.edu	37	15	52902196	52902196	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52902196G>A	ENST00000261844.7	-	6	1067	c.915C>T	c.(913-915)ggC>ggT	p.G305G	FAM214A_ENST00000546305.2_Silent_p.G312G	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	305											NA						CAGATTTACTGCCAGTGCCTG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	52	55			NA	NA	15		NA											NA				52902196		1847	4090	5937	SO:0001819	synonymous_variant			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346	56204	56204			25609	protein-coding gene	gene with protein product			KIAA1370	KIAA1370	NA	10718198	Standard	NM_019600	XM_005254547	NA	Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.915C>T	15.37:g.52902196G>A		NA	A8KA52|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	37	CCDS45263.1																																																																																			FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419914.1		-	ENST00000261844.7	Silent	SNP	15 : 52902196 - 52902196 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	126	14
CABLES1	91768	broad.mit.edu	37	18	20815979	20815979	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:20815979G>T	ENST00000256925.7	+	6	1306	c.1306G>T	c.(1306-1308)Ggc>Tgc	p.G436C	CABLES1_ENST00000585061.1_Intron|CABLES1_ENST00000420687.2_Missense_Mutation_p.G171C|CABLES1_ENST00000400473.2_Missense_Mutation_p.G109C|TMEM241_ENST00000450466.2_Intron	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	436	Interacts with CDK3 (By similarity).				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCTCTCCATAGGCCGGGCAAG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	66	64			NA	NA	18		NA											NA				20815979		1918	4119	6037	SO:0001583	missense			BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508	91768	91768			25097	protein-coding gene	gene with protein product		609194			NA	12477932	Standard	NM_138375	NM_138375	NA	Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.1306G>T	18.37:g.20815979G>T	ENSP00000256925:p.Gly436Cys	NA	Q8N3Y8|Q8NA22|Q9BTG1	37	CCDS42417.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682669	0.88542	.	.	ENSG00000134508	ENST00000400473;ENST00000256925;ENST00000420687	T;T;T	0.46819	0.92;0.86;0.9	4.94	4.94	0.65067	.	0.099785	0.64402	D	0.000002	T	0.63698	0.2533	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	0.991;1.0	P;D	0.76575	0.823;0.988	T	0.65455	-0.6164	10	0.62326	D	0.03	-14.8556	18.3672	0.90396	0.0:0.0:1.0:0.0	.	171;436	Q8TDN4-2;Q8TDN4	.;CABL1_HUMAN	C	109;436;171	ENSP00000383321:G109C;ENSP00000256925:G436C;ENSP00000413851:G171C	ENSP00000256925:G436C	G	+	1	0	CABLES1	19069977	1.000000	0.71417	0.423000	0.26634	0.849000	0.48306	9.386000	0.97228	2.571000	0.86741	0.655000	0.94253	GGC	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445198.2		+	ENST00000256925.7	Missense_Mutation	SNP	18 : 20815979 - 20815979 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	632	18
CDH4	1002	broad.mit.edu	37	20	60498707	60498707	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60498707G>A	ENST00000360469.5	+	10	1661	c.1573G>A	c.(1573-1575)Gtg>Atg	p.V525M	CDH4_ENST00000543233.1_Missense_Mutation_p.V451M	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	525	Cadherin 4.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCCCGGCACCGTGCTGACCAC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	54	57			NA	NA	20		NA											NA				60498707		2203	4300	6503	SO:0001583	missense			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242	1002	1002		Cadherins / Major cadherins	1763	protein-coding gene	gene with protein product	R-Cadherin	603006			NA	10191097, 10516427	Standard	NM_001794	NM_001794	NA	Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1573G>A	20.37:g.60498707G>A	ENSP00000353656:p.Val525Met	NA	Q2M208|Q5VZ44|Q9BZ05	37	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.238671	0.22711	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.52295	0.67;0.67	4.72	4.72	0.59763	Cadherin (3);Cadherin-like (1);	0.256554	0.39834	N	0.001260	T	0.29620	0.0739	N	0.12637	0.245	0.09310	N	1	P	0.42518	0.782	B	0.39617	0.305	T	0.13845	-1.0494	9	.	.	.	.	13.434	0.61073	0.0:0.1577:0.8423:0.0	.	525	P55283	CADH4_HUMAN	M	525;433;451	ENSP00000353656:V525M;ENSP00000443301:V451M	.	V	+	1	0	CDH4	59932102	0.012000	0.17670	0.742000	0.31022	0.778000	0.44026	2.000000	0.40816	2.162000	0.67917	0.543000	0.68304	GTG	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079965.2		+	ENST00000360469.5	Missense_Mutation	SNP	20 : 60498707 - 60498707 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	221	54
MFSD7	84179	broad.mit.edu	37	4	676148	676148	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:676148C>T	ENST00000515118.1	-	8	1054	c.991G>A	c.(991-993)Gcc>Acc	p.A331T	MFSD7_ENST00000503156.1_Intron|MFSD7_ENST00000404286.2_Missense_Mutation_p.A428T|MFSD7_ENST00000322224.4_Missense_Mutation_p.A427T|MFSD7_ENST00000347950.5_Missense_Mutation_p.A309T			Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	428					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						CACAGGCCGGCCATCAGCAGC	0.647		NA											C	4	0.0018	0.0041	NA	2184	0.0035	0.9965	,	,	NA	0.0015	NA	NA	NA	0.0032	0.5715	EXOME	NA	NA	0.0011	SNP								NA				0													10	12	11			NA	NA	4		NA											NA				676148		2033	4033	6066	SO:0001583	missense			AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026	84179	84179		Solute carriers	26177	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_032219	XM_005272295	NA	Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000515118.1:c.991G>A	4.37:g.676148C>T	ENSP00000423204:p.Ala331Thr	NA	A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	37		4	0.0018315018315018315	2	0.0040650406504065045	0	0.0	2	0.0034965034965034965	0	0.0	C	21.0	4.078096	0.76528	.	.	ENSG00000169026	ENST00000347950;ENST00000322224;ENST00000404286;ENST00000515118	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	4.26	4.26	0.50523	Major facilitator superfamily domain, general substrate transporter (1);	0.061492	0.64402	D	0.000005	T	0.72542	0.3473	M	0.70275	2.135	0.80722	D	1	D;D;P;D	0.60575	0.988;0.988;0.454;0.976	P;P;B;P	0.61477	0.889;0.889;0.342;0.793	T	0.70260	-0.4921	10	0.28530	T	0.3	-16.8238	12.4069	0.55445	0.0:1.0:0.0:0.0	.	331;309;428;427	D6R9R0;Q6UXD7-3;Q6UXD7;Q6UXD7-2	.;.;MFSD7_HUMAN;.	T	309;427;428;331	ENSP00000307545:A309T;ENSP00000320234:A427T;ENSP00000384616:A428T;ENSP00000423204:A331T	ENSP00000320234:A427T	A	-	1	0	MFSD7	666148	1.000000	0.71417	0.994000	0.49952	0.315000	0.28087	2.147000	0.42226	2.394000	0.81467	0.585000	0.79938	GCC	MFSD7-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000358583.1		-	ENST00000515118.1	Missense_Mutation	SNP	4 : 676148 - 676148 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	117	21
RASAL2	9462	broad.mit.edu	37	1	178427268	178427268	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178427268C>T	ENST00000462775.1	+	12	2543	c.2418C>T	c.(2416-2418)aaC>aaT	p.N806N	RASAL2_ENST00000448150.3_Silent_p.N936N|RASAL2_ENST00000367649.3_Silent_p.N947N	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	806					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GTTTGGAGAACCTAAGCACTG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	84	84			NA	NA	1		NA											NA				178427268		2203	4300	6503	SO:0001819	synonymous_variant			AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391	9462	9462		Pleckstrin homology (PH) domain containing	9874	protein-coding gene	gene with protein product	Ras GTPase activating protein-like, Ras protein activator like 1	606136			NA	9877179	Standard	NM_170692	NM_004841	NA	Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.2418C>T	1.37:g.178427268C>T		NA	O95174|Q5TFU9	37	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	C	4.723	0.134370	0.09032	.	.	ENSG00000075391	ENST00000433130	.	.	.	5.31	4.4	0.53042	.	.	.	.	.	T	0.59088	0.2168	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56456	-0.7976	4	.	.	.	.	8.6916	0.34271	0.0:0.7721:0.0:0.2279	.	.	.	.	S	357	.	.	P	+	1	0	RASAL2	176693891	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.275000	0.43399	1.235000	0.43724	0.655000	0.94253	CCT	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084758.3		+	ENST00000462775.1	Silent	SNP	1 : 178427268 - 178427268 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	496	118
MYO18B	84700	broad.mit.edu	37	22	26224921	26224921	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26224921C>T	ENST00000407587.2	+	15	3134	c.2965C>T	c.(2965-2967)Cag>Tag	p.Q989*	MYO18B_ENST00000335473.7_Nonsense_Mutation_p.Q989*|MYO18B_ENST00000536101.1_Nonsense_Mutation_p.Q989*			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	989	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CTCCACGCTACAGCGATATCA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	58	57			NA	NA	22		NA											NA				26224921		2051	4199	6250	SO:0001587	stop_gained			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454	84700	84700		Myosins / Myosin superfamily : Class XVIII	18150	protein-coding gene	gene with protein product		607295			NA	12209013, 12547197	Standard	NM_032608	NM_032608	NA	Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2965C>T	22.37:g.26224921C>T	ENSP00000386096:p.Gln989*	NA	B2RWP3|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	37		.	.	.	.	.	.	.	.	.	.	C	41	8.572203	0.98868	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	.	.	.	4.69	3.67	0.42095	.	0.126707	0.51477	D	0.000086	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.7042	0.62627	0.0:0.1588:0.8412:0.0	.	.	.	.	X	989	.	ENSP00000334563:Q989X	Q	+	1	0	MYO18B	24554921	1.000000	0.71417	0.976000	0.42696	0.021000	0.10359	3.493000	0.53266	1.196000	0.43129	-0.256000	0.11100	CAG	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000400691.1		+	ENST00000407587.2	Nonsense_Mutation	SNP	22 : 26224921 - 26224921 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	249	44
CNOT3	4849	broad.mit.edu	37	19	54659048	54659048	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54659048G>T	ENST00000406403.1	+	17	3768	c.2165G>T	c.(2164-2166)gGc>gTc	p.G722V	LENG1_ENST00000222224.3_3'UTR|CNOT3_ENST00000221232.5_Splice_Site_p.G722V			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	722					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCCGGCCAGGGCACCTACATC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	55	59			NA	NA	19		NA											NA				54659048		2203	4300	6503	SO:0001630	splice_region_variant			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038	4849	4849			7879	protein-coding gene	gene with protein product	NOT3 (negative regulator of transcription 3, yeast) homolog	604910		NOT3	NA	10637334, 9734811	Standard	NM_014516	NM_014516	NA	Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.2164-1G>T	19.37:g.54659048G>T		NA	Q9NZN7|Q9UF76	37	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.770074	0.90108	.	.	ENSG00000088038	ENST00000221232;ENST00000406403;ENST00000471126	T;T;T	0.61274	0.12;0.12;0.12	4.49	4.49	0.54785	NOT2/NOT3/NOT5 (1);	0.065863	0.64402	D	0.000017	D	0.82747	0.5104	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.88337	0.2972	10	0.87932	D	0	-29.4252	16.5216	0.84318	0.0:0.0:1.0:0.0	.	722	O75175	CNOT3_HUMAN	V	722;722;57	ENSP00000221232:G722V;ENSP00000383954:G722V;ENSP00000420064:G57V	ENSP00000221232:G722V	G	+	2	0	CNOT3	59350860	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.110000	0.94302	2.503000	0.84419	0.561000	0.74099	GGC	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000142130.3	Missense_Mutation	+	ENST00000406403.1	Splice_Site	SNP	19 : 54659048 - 54659048 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	142	18
PCDH9	5101	broad.mit.edu	37	13	66879090	66879090	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:66879090A>G	ENST00000456367.1	-	4	3995	c.3309T>C	c.(3307-3309)ggT>ggC	p.G1103G	PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000544246.1_Silent_p.G1137G|PCDH9_ENST00000377865.2_Silent_p.G1137G|PCDH9_ENST00000328454.5_Silent_p.G1103G	NM_020403.4	NP_065136.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	1137					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TATCAGAGTGACCCAAAACCA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	77	81			NA	NA	13		NA											NA				66879090		2203	4300	6503	SO:0001819	synonymous_variant			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226	5101	5101		Cadherins / Protocadherins : Non-clustered	8661	protein-coding gene	gene with protein product		603581			NA	9787079	Standard	NM_203487	NM_020403	NA	Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000456367.1:c.3309T>C	13.37:g.66879090A>G		NA	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	37	CCDS9443.1																																																																																			PCDH9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045214.2		-	ENST00000456367.1	Silent	SNP	13 : 66879090 - 66879090 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	312	46
UTP3	57050	broad.mit.edu	37	4	71555130	71555130	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71555130C>T	ENST00000254803.2	+	1	935	c.736C>T	c.(736-738)Cca>Tca	p.P246S		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	246					brain development|chromatin modification|gene silencing	nucleolus				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			TGAGCTGGAGCCATTGTTAGA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	84	84			NA	NA	4		NA											NA				71555130		2203	4300	6503	SO:0001583	missense			AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467	57050	57050			24477	protein-coding gene	gene with protein product	disrupter of silencing 10	611614			NA	12477932	Standard	NM_020368	NM_020368	NA	Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.736C>T	4.37:g.71555130C>T	ENSP00000254803:p.Pro246Ser	NA	Q6FI82	37	CCDS3546.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367264	0.82463	.	.	ENSG00000132467	ENST00000254803	T	0.37584	1.19	5.44	5.44	0.79542	.	0.167126	0.53938	D	0.000054	T	0.64416	0.2596	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65183	-0.6230	10	0.45353	T	0.12	-28.2254	19.2714	0.94011	0.0:1.0:0.0:0.0	.	246	Q9NQZ2	SAS10_HUMAN	S	246	ENSP00000254803:P246S	ENSP00000254803:P246S	P	+	1	0	UTP3	71773994	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	6.389000	0.73199	2.542000	0.85734	0.603000	0.83216	CCA	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252163.2		+	ENST00000254803.2	Missense_Mutation	SNP	4 : 71555130 - 71555130 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	457	79
GOLGA6B	55889	broad.mit.edu	37	15	72953649	72953649	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72953649G>T	ENST00000421285.3	+	8	609	c.609G>T	c.(607-609)caG>caT	p.Q203H		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	203										NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GGTTACAGCAGACCATAAAGG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	81	74			NA	NA	15		NA											NA				72953649		1481	2647	4128	SO:0001583	missense				CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186	55889	55889			32205	protein-coding gene	gene with protein product			golgi autoantigen, golgin subfamily a, 6B		NA		Standard	NM_018652	XM_006720604	NA	Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.609G>T	15.37:g.72953649G>T	ENSP00000408132:p.Gln203His	NA	A8MYY7	37	CCDS10245.2	.	.	.	.	.	.	.	.	.	.	.	9.908	1.208805	0.22205	.	.	ENSG00000215186	ENST00000421285	T	0.22945	1.93	0.39	0.39	0.16275	.	.	.	.	.	T	0.35711	0.0941	L	0.50333	1.59	0.09310	N	1	D	0.54397	0.966	P	0.61592	0.891	T	0.12656	-1.0539	9	0.49607	T	0.09	.	6.668	0.23052	2.0E-4:0.0:0.9998:0.0	.	203	A6NDN3	GOG6B_HUMAN	H	203	ENSP00000408132:Q203H	ENSP00000408132:Q203H	Q	+	3	2	GOLGA6B	70740703	0.805000	0.28982	0.008000	0.14137	0.007000	0.05969	2.996000	0.49449	0.472000	0.27344	0.134000	0.15878	CAG	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257474.4		+	ENST00000421285.3	Missense_Mutation	SNP	15 : 72953649 - 72953649 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1107	56
DHX15	1665	broad.mit.edu	37	4	24578221	24578221	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:24578221C>T	ENST00000336812.4	-	2	308	c.152G>A	c.(151-153)cGa>cAa	p.R51Q		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	51					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				ctccctctcTCGCTCTCTATC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	155	163			NA	NA	4		NA											NA				24578221		2203	4300	6503	SO:0001583	missense			AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606	1665	1665		DEAH-boxes	2738	protein-coding gene	gene with protein product		603403	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15, DEAH (Asp-Glu-Ala-His) box polypeptide 15	DDX15	NA	9388478	Standard	NM_001358	NM_001358	NA	Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.152G>A	4.37:g.24578221C>T	ENSP00000336741:p.Arg51Gln	NA	Q9NQT7	37	CCDS33966.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507978	0.85282	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	T	0.62232	0.04	5.63	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.42337	0.1198	N	0.08118	0	0.80722	D	1	B	0.13145	0.007	B	0.08055	0.003	T	0.30357	-0.9981	10	0.37606	T	0.19	-21.7171	14.6448	0.68754	0.0:0.9286:0.0:0.0714	.	51	O43143	DHX15_HUMAN	Q	51;40	ENSP00000336741:R51Q	ENSP00000336741:R51Q	R	-	2	0	DHX15	24187319	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.632000	0.67819	2.652000	0.90054	0.655000	0.94253	CGA	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360143.1		-	ENST00000336812.4	Missense_Mutation	SNP	4 : 24578221 - 24578221 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	303	69
FOXJ3	22887	broad.mit.edu	37	1	42744089	42744089	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:42744089G>T	ENST00000372572.1	-	5	610	c.299C>A	c.(298-300)aCt>aAt	p.T100N	FOXJ3_ENST00000372573.1_Missense_Mutation_p.T100N|FOXJ3_ENST00000545068.1_Missense_Mutation_p.T100N|FOXJ3_ENST00000361346.1_Missense_Mutation_p.T100N|FOXJ3_ENST00000361776.1_Missense_Mutation_p.T100N	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	100					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTCACTTAAAGTCATTTTCTT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	130	130			NA	NA	1		NA											NA				42744089		2203	4300	6503	SO:0001583	missense			AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815	22887	22887		Forkhead boxes	29178	protein-coding gene	gene with protein product					NA		Standard	NM_014947	NM_014947	NA	Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.299C>A	1.37:g.42744089G>T	ENSP00000361653:p.Thr100Asn	NA	A7MBL7|A7MD18|D3DPW2|Q9NSS7	37	CCDS30689.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272096	0.80469	.	.	ENSG00000198815	ENST00000372573;ENST00000372572;ENST00000361346;ENST00000361776;ENST00000545068;ENST00000445886;ENST00000454417	D;D;D;D;D;D;D	0.96200	-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94	5.48	5.48	0.80851	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.97770	0.9268	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98459	1.0595	10	0.87932	D	0	.	16.8493	0.85989	0.0:0.0:1.0:0.0	.	100;100	Q9UPW0-2;Q9UPW0	.;FOXJ3_HUMAN	N	100;100;100;100;100;100;57	ENSP00000361654:T100N;ENSP00000361653:T100N;ENSP00000354620:T100N;ENSP00000354449:T100N;ENSP00000439044:T100N;ENSP00000393408:T100N;ENSP00000403060:T57N	ENSP00000354620:T100N	T	-	2	0	FOXJ3	42516676	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.807000	0.99171	2.574000	0.86865	0.455000	0.32223	ACT	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000018310.1		-	ENST00000372572.1	Missense_Mutation	SNP	1 : 42744089 - 42744089 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	471	46
LCT	3938	broad.mit.edu	37	2	136594308	136594308	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136594308G>A	ENST00000264162.2	-	1	442	c.432C>T	c.(430-432)acC>acT	p.T144T		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	144	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)		CAAAGGCTTCGGTTCTCCGGA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	95	99			NA	NA	2		NA											NA				136594308		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.432C>T	2.37:g.136594308G>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 : 136594308 - 136594308 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	297	81
SIRPB1	10326	broad.mit.edu	37	20	1552374	1552374	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1552374G>A	ENST00000381605.4	-	3	807	c.743C>T	c.(742-744)gCc>gTc	p.A248V	SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	248					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						ACCTCGGATGGCCTCAGACAA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	75	78			NA	NA	20		NA											NA				1552374		2203	4300	6503	SO:0001583	missense			Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307	10326	10326		Signal-regulatory proteins, CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C1-set domain containing	15928	protein-coding gene	gene with protein product		603889			NA	9062191, 16339511	Standard	NM_006065	NM_001083910	NA	Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.743C>T	20.37:g.1552374G>A	ENSP00000371018:p.Ala248Val	NA	A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	37	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	0.379	-0.929480	0.02359	.	.	ENSG00000101307	ENST00000381605	T	0.02177	4.41	2.47	0.415	0.16411	.	0.573863	0.16798	N	0.199113	T	0.01061	0.0035	N	0.12831	0.26	0.22787	N	0.998734	B	0.09022	0.002	B	0.10450	0.005	T	0.48670	-0.9015	10	0.02654	T	1	.	4.2716	0.10789	0.358:0.0:0.642:0.0	.	248	O00241	SIRB1_HUMAN	V	248	ENSP00000371018:A248V	ENSP00000371018:A248V	A	-	2	0	SIRPB1	1500374	0.014000	0.17966	0.964000	0.40570	0.911000	0.54048	-0.227000	0.09126	0.374000	0.24650	0.456000	0.33151	GCC	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077555.2		-	ENST00000381605.4	Missense_Mutation	SNP	20 : 1552374 - 1552374 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	360	61
RORC	6097	broad.mit.edu	37	1	151787891	151787891	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151787891G>A	ENST00000356728.6	-	4	400	c.246C>T	c.(244-246)ttC>ttT	p.F82F	RORC_ENST00000392697.3_Silent_p.F157F|RORC_ENST00000318247.6_Silent_p.F103F	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	RAR-related orphan receptor C	103					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACATGCGGCCGAACTTGACAG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	41	42			NA	NA	1		NA											NA				151787891		2202	4298	6500	SO:0001819	synonymous_variant			U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365	NA	6097		Nuclear hormone receptors	10260	protein-coding gene	gene with protein product		602943			NA	7811290	Standard		NM_005060	NA	Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000356728.6:c.246C>T	1.37:g.151787891G>A		NA	Q5SZR9|Q8N5V7|Q8NCY8	37	CCDS30856.1																																																																																			RORC-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000036627.1		-	ENST00000356728.6	Silent	SNP	1 : 151787891 - 151787891 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	359	57
SYVN1	84447	broad.mit.edu	37	11	64895881	64895881	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64895881C>T	ENST00000526060.1	-	16	2016	c.1824G>A	c.(1822-1824)caG>caA	p.Q608Q	SYVN1_ENST00000377190.3_Silent_p.Q609Q|SYVN1_ENST00000307289.6_Silent_p.Q557Q|SYVN1_ENST00000294256.8_Silent_p.Q608Q			Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	609					ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						ACTCCAGCTTCTGCAGGCGGC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	29	27			NA	NA	11		NA											NA				64895881		2201	4297	6498	SO:0001819	synonymous_variant			AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298	84447	84447		RING-type (C3HC4) zinc fingers	20738	protein-coding gene	gene with protein product	HMG-coA reductase degradation 1 homolog (S. cerevisiae)	608046			NA	12975321	Standard	NM_032431	NM_032431	NA	Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000526060.1:c.1824G>A	11.37:g.64895881C>T		NA	Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	37	CCDS8097.1	.	.	.	.	.	.	.	.	.	.	c	3.512	-0.099676	0.07010	.	.	ENSG00000162298	ENST00000434219	.	.	.	4.73	-4.48	0.03515	.	.	.	.	.	T	0.40619	0.1124	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33189	-0.9878	5	0.07990	T	0.79	.	12.7242	0.57162	0.0:0.4464:0.0:0.5536	.	.	.	.	K	609	.	ENSP00000412962:R609K	R	-	2	0	SYVN1	64652457	0.000000	0.05858	0.409000	0.26459	0.890000	0.51754	-2.457000	0.01001	-1.770000	0.01295	-1.194000	0.01681	AGA	SYVN1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385278.1		-	ENST00000526060.1	Silent	SNP	11 : 64895881 - 64895881 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	164	30
SUSD1	64420	broad.mit.edu	37	9	114874056	114874056	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114874056G>A	ENST00000374270.3	-	8	1221	c.1049C>T	c.(1048-1050)aCc>aTc	p.T350I	SUSD1_ENST00000374263.3_Missense_Mutation_p.T350I|SUSD1_ENST00000374264.2_Missense_Mutation_p.T350I	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	350						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GCTGTCTGTGGTCAAGTTGAC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													269	224	240			NA	NA	9		NA											NA				114874056		2203	4300	6503	SO:0001583	missense			AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868	64420	64420			25413	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_022486	NM_022486	NA	Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.1049C>T	9.37:g.114874056G>A	ENSP00000363388:p.Thr350Ile	NA	A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	37	CCDS6783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.44|18.44	3.624689|3.624689	0.66901|0.66901	.|.	.|.	ENSG00000106868|ENSG00000106868	ENST00000415074|ENST00000374270;ENST00000374263;ENST00000374264	.|T;T;T	.|0.74632	.|-0.79;-0.81;-0.86	5.61|5.61	4.69|4.69	0.59074|0.59074	.|.	.|0.132704	.|0.34652	.|N	.|0.003797	D|D	0.85256|0.85256	0.5655|0.5655	M|M	0.82823|0.82823	2.61|2.61	0.32752|0.32752	N|N	0.506256|0.506256	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.992;0.999	D|D	0.87466|0.87466	0.2411|0.2411	5|10	.|0.30854	.|T	.|0.27	-7.586|-7.586	12.0414|12.0414	0.53454|0.53454	0.0:0.0:0.8275:0.1725|0.0:0.0:0.8275:0.1725	.|.	.|350;350;350	.|F8WAQ1;Q6UWL2-2;Q6UWL2	.|.;.;SUSD1_HUMAN	S|I	164|350	.|ENSP00000363388:T350I;ENSP00000363381:T350I;ENSP00000363382:T350I	.|ENSP00000363381:T350I	P|T	-|-	1|2	0|0	SUSD1|SUSD1	113913877|113913877	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.921000|0.921000	0.55340|0.55340	3.367000|3.367000	0.52350|0.52350	1.457000|1.457000	0.47850|0.47850	0.655000|0.655000	0.94253|0.94253	CCA|ACC	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053668.3		-	ENST00000374270.3	Missense_Mutation	SNP	9 : 114874056 - 114874056 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	409	73
TNFSF13	8741	broad.mit.edu	37	17	7463164	7463164	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7463164G>T	ENST00000338784.4	+	3	782	c.339G>T	c.(337-339)aaG>aaT	p.K113N	TNFSF13_ENST00000380535.4_Intron|TNFSF12-TNFSF13_ENST00000293826.4_Splice_Site_p.K193N|TNFSF13_ENST00000483039.1_5'UTR|TNFSF13_ENST00000349228.4_Intron|TNFSF12_ENST00000557233.1_Splice_Site_p.K193N|TNFSF13_ENST00000396542.1_Intron|TNFSF13_ENST00000396545.4_Splice_Site_p.K113N	NM_003808.3	NP_003799.1			tumor necrosis factor (ligand) superfamily, member 13	NA										large_intestine(2)|lung(2)|skin(1)	5		Prostate(122;0.157)				TCTCCTCAGAGCAGCACTCTG	0.562		NA									OREG0024138	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	134	132			NA	NA	17		NA											NA				7463164		2203	4300	6503	SO:0001630	splice_region_variant			AF046888	CCDS11111.1, CCDS11112.1, CCDS42256.1, CCDS56019.1, CCDS73957.1	17p13.1	2007-07-23			ENSG00000161955	ENSG00000161955	8741	8741		Tumor necrosis factor (ligand) superfamily, CD molecules	11928	protein-coding gene	gene with protein product		604472			NA	9743536	Standard	NM_003808	NM_172088	NA	Approved	APRIL, CD256		O75888	OTTHUMG00000108145	ENST00000338784.4:c.338-1G>T	17.37:g.7463164G>T		641		37	CCDS11111.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.619682	0.28801	.	.	ENSG00000239697;ENSG00000248871;ENSG00000161955;ENSG00000161955;ENSG00000161955	ENST00000557233;ENST00000293826;ENST00000436057;ENST00000338784;ENST00000396545	D;D;T;D;D	0.97620	-4.46;-4.46;1.42;-3.86;-3.86	4.17	3.2	0.36748	.	0.967335	0.08562	N	0.927345	D	0.96562	0.8878	L	0.60455	1.87	0.80722	D	1	P;P;D	0.57257	0.501;0.634;0.979	B;B;P	0.54759	0.261;0.167;0.76	D	0.91970	0.5586	10	0.18276	T	0.48	.	8.0311	0.30465	0.1132:0.0:0.8868:0.0	.	113;113;193	O75888;O75888-3;Q8IZK7	TNF13_HUMAN;.;.	N	193;193;96;113;113	ENSP00000451451:K193N;ENSP00000293826:K193N;ENSP00000410094:K96N;ENSP00000343505:K113N;ENSP00000379794:K113N	ENSP00000293826:K193N	K	+	3	2	TNFSF13;TNFSF12-TNFSF13;TNFSF12	7403888	0.963000	0.33076	0.981000	0.43875	0.104000	0.19210	1.446000	0.35090	1.102000	0.41551	0.462000	0.41574	AAG	TNFSF13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226948.2	Missense_Mutation	+	ENST00000338784.4	Splice_Site	SNP	17 : 7463164 - 7463164 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	462	14
CHD8	57680	broad.mit.edu	37	14	21899168	21899168	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21899168C>T	ENST00000557364.1	-	2	898	c.635G>A	c.(634-636)cGa>cAa	p.R212Q	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Intron|CHD8_ENST00000399982.2_Missense_Mutation_p.R212Q			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	212					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AACACCTGGTCGAAGGGGTGT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	41	42			NA	NA	14		NA											NA				21899168		1568	3582	5150	SO:0001583	missense			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888	57680	57680			20153	protein-coding gene	gene with protein product		610528	helicase with SNF2 domain 1	HELSNF1	NA	10997877	Standard	NM_020920	NM_020920	NA	Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.635G>A	14.37:g.21899168C>T	ENSP00000451601:p.Arg212Gln	NA	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	37	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315742	0.81469	.	.	ENSG00000100888	ENST00000399982;ENST00000557364	D;D	0.90004	-2.6;-2.6	5.86	5.86	0.93980	.	0.150379	0.28230	U	0.016120	D	0.85915	0.5808	N	0.24115	0.695	0.36061	D	0.841445	.	.	.	.	.	.	D	0.83981	0.0332	8	0.13470	T	0.59	-4.9624	18.9562	0.92659	0.0:1.0:0.0:0.0	.	.	.	.	Q	212	ENSP00000382863:R212Q;ENSP00000451601:R212Q	ENSP00000382863:R212Q	R	-	2	0	CHD8	20969008	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.901000	0.63259	2.775000	0.95449	0.585000	0.79938	CGA	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410436.1		-	ENST00000557364.1	Missense_Mutation	SNP	14 : 21899168 - 21899168 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	161	25
DIP2A	23181	broad.mit.edu	37	21	47966834	47966834	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47966834C>A	ENST00000400274.1	+	21	2622	c.2389C>A	c.(2389-2391)Ctg>Atg	p.L797M	DIP2A_ENST00000427143.2_Missense_Mutation_p.L737M|DIP2A_ENST00000417564.2_Missense_Mutation_p.L801M|DIP2A_ENST00000466639.1_Missense_Mutation_p.L758M|DIP2A_ENST00000318711.7_Missense_Mutation_p.L802M|DIP2A_ENST00000457905.3_Missense_Mutation_p.L801M|DIP2A_ENST00000435722.3_Missense_Mutation_p.L801M			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	801					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TCAGGACAACCTGGTCTTCAT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	84	82			NA	NA	21		NA											NA				47966834		2133	4257	6390	SO:0001583	missense			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305	23181	23181			17217	protein-coding gene	gene with protein product		607711	chromosome 21 open reading frame 106	C21orf106	NA		Standard	NM_015151	NM_015151	NA	Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000400274.1:c.2389C>A	21.37:g.47966834C>A	ENSP00000383133:p.Leu797Met	NA	A6P4T3|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	37	CCDS54490.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.979798	0.53827	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0	4.41	2.55	0.30701	AMP-dependent synthetase/ligase (1);	0.000000	0.64402	D	0.000018	T	0.51890	0.1701	L	0.50993	1.605	0.51233	D	0.999918	D;P;D;D;D;B	0.89917	0.972;0.899;1.0;0.996;0.988;0.358	D;P;D;D;P;P	0.91635	0.928;0.53;0.999;0.913;0.856;0.577	T	0.47849	-0.9085	10	0.46703	T	0.11	-14.7334	7.009	0.24851	0.0:0.6354:0.0:0.3645	.	802;737;758;737;801;801	E9PER1;E7EMA5;Q14689-3;B4E0F0;Q14689;Q14689-4	.;.;.;.;DIP2A_HUMAN;.	M	797;737;802;758;801;758;801;801	ENSP00000383133:L797M;ENSP00000400528:L737M;ENSP00000323633:L802M;ENSP00000393434:L801M;ENSP00000430249:L758M;ENSP00000415089:L801M;ENSP00000392066:L801M	ENSP00000323633:L802M	L	+	1	2	DIP2A	46791262	0.400000	0.25295	0.998000	0.56505	0.918000	0.54935	0.823000	0.27366	0.980000	0.38523	0.467000	0.42956	CTG	DIP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207431.1		+	ENST00000400274.1	Missense_Mutation	SNP	21 : 47966834 - 47966834 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	145	28
FUT11	170384	broad.mit.edu	37	10	75532151	75532151	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75532151A>G	ENST00000372841.3	+	1	103	c.60A>G	c.(58-60)gcA>gcG	p.A20A	FUT11_ENST00000394790.1_Silent_p.A20A|AC022400.2_ENST00000595757.1_Silent_p.A76A	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	20					protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					GTGTCTGTGCAGCCAGCGGCC	0.731		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	23	23			NA	NA	10		NA											NA				75532151		2197	4294	6491	SO:0001819	synonymous_variant			BC036037	CCDS7333.1, CCDS60558.1	10q22.3	2014-01-02			ENSG00000196968	ENSG00000196968	170384	170384		Fucosyltransferases	19233	protein-coding gene	gene with protein product					NA	11698403, 24318988	Standard	NM_173540	NM_173540	NA	Approved	MGC33202	uc001jva.3	Q495W5	OTTHUMG00000018483	ENST00000372841.3:c.60A>G	10.37:g.75532151A>G		NA	Q495W7|Q8IYE4	37	CCDS7333.1																																																																																			FUT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048689.1		+	ENST00000372841.3	Silent	SNP	10 : 75532151 - 75532151 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	106	19
PPP2R1B	5519	broad.mit.edu	37	11	111614190	111614190	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111614190C>A	ENST00000341980.6	-	11	1335	c.1329G>T	c.(1327-1329)gaG>gaT	p.E443D	PPP2R1B_ENST00000527614.1_Missense_Mutation_p.E488D|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.E327D|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.E424D|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.E361D|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.E488D			P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	488							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		TTTGGGCCCACTCTGTACCAA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	152	157			NA	NA	11		NA											NA				111614190		2201	4297	6498	SO:0001583	missense			AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	5519	5519	3.1.3.16	Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits	9303	protein-coding gene	gene with protein product	PP2A-A-beta, protein phosphatase 2A, regulatory subunit A, beta isoform	603113	protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform, protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform		NA	2159327, 9795170	Standard	NM_002716	NM_181699	NA	Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000341980.6:c.1329G>T	11.37:g.111614190C>A	ENSP00000343317:p.Glu443Asp	NA	B0YJ69|O75620|Q8NHV8	37	CCDS53708.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860498	0.32884	.	.	ENSG00000137713	ENST00000311129;ENST00000412902;ENST00000426998;ENST00000527614;ENST00000427203;ENST00000341980;ENST00000393055	T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4	6.02	-0.582	0.11709	Armadillo-like helical (1);Armadillo-type fold (1);	0.231591	0.45867	N	0.000338	T	0.15998	0.0385	N	0.20881	0.62	0.40696	D	0.982447	B;B;B;B;B;B	0.11235	0.004;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.12837	0.008;0.005;0.0;0.0;0.0;0.001	T	0.09443	-1.0674	10	0.19590	T	0.45	-8.1876	1.1121	0.01706	0.132:0.3117:0.2574:0.299	.	361;443;327;424;488;488	A8MY67;F8W8G1;B7Z1G3;B4DWW5;P30154;P30154-2	.;.;.;.;2AAB_HUMAN;.	D	488;361;424;488;327;443;361	ENSP00000311344:E488D;ENSP00000410671:E424D;ENSP00000437193:E488D;ENSP00000415759:E327D;ENSP00000343317:E443D;ENSP00000376775:E361D	ENSP00000311344:E488D	E	-	3	2	PPP2R1B	111119400	0.976000	0.34144	0.996000	0.52242	0.998000	0.95712	0.166000	0.16583	-0.066000	0.12998	0.655000	0.94253	GAG	PPP2R1B-005	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391300.1		-	ENST00000341980.6	Missense_Mutation	SNP	11 : 111614190 - 111614190 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	649	115
CHST9	83539	broad.mit.edu	37	18	24496606	24496606	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:24496606C>T	ENST00000284224.8	-	6	1226	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.A317T|AQP4-AS1_ENST00000578701.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	317					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TCTTCACAGGCATTTGGTCGA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	147	149			NA	NA	18		NA											NA				24496606		1879	4107	5986	SO:0001583	missense			AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080	83539	83539		Sulfotransferases, membrane-bound	19898	protein-coding gene	gene with protein product		610191			NA	11139592, 11445554	Standard	NM_031422	NM_031422	NA	Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.949G>A	18.37:g.24496606C>T	ENSP00000284224:p.Ala317Thr	NA	Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	37	CCDS42422.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805161	0.50315	.	.	ENSG00000154080	ENST00000284224	T	0.74209	-0.82	6.17	6.17	0.99709	.	0.245793	0.36134	N	0.002767	D	0.82360	0.5020	M	0.65498	2.005	0.80722	D	1	P	0.46912	0.886	P	0.51550	0.673	T	0.82374	-0.0489	10	0.72032	D	0.01	-4.0501	20.8794	0.99867	0.0:1.0:0.0:0.0	.	317	Q7L1S5	CHST9_HUMAN	T	317	ENSP00000284224:A317T	ENSP00000284224:A317T	A	-	1	0	CHST9	22750604	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.758000	0.62220	2.941000	0.99782	0.655000	0.94253	GCC	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000446549.1		-	ENST00000284224.8	Missense_Mutation	SNP	18 : 24496606 - 24496606 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1068	188
VPS37A	137492	broad.mit.edu	37	8	17132303	17132303	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17132303C>T	ENST00000324849.4	+	5	1152	c.478C>T	c.(478-480)Cca>Tca	p.P160S	VPS37A_ENST00000324815.3_Missense_Mutation_p.S169F|VPS37A_ENST00000521829.1_Missense_Mutation_p.P135S	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	160					cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		ATTTCTTCCTCCATATCCTCC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	86	91			NA	NA	8		NA											NA				17132303		2203	4300	6503	SO:0001583	missense				CCDS6001.1, CCDS47811.1	8p22	2012-06-29	2006-04-04		ENSG00000155975	ENSG00000155975	137492	137492			24928	protein-coding gene	gene with protein product	hepatocellular carcinoma related protein 1	609927	vacuolar protein sorting 37A (yeast), polyglutamine binding protein 2	PQBP2	NA	15240819, 15218037, 22717650	Standard	NM_152415	NM_152415	NA	Approved	FLJ32642, HCRP1, SPG53	uc003wxj.3	Q8NEZ2	OTTHUMG00000130785	ENST00000324849.4:c.478C>T	8.37:g.17132303C>T	ENSP00000318629:p.Pro160Ser	NA	Q336D5|Q6NW27|Q8N3D7|Q8TBL7|Q96DL9	37	CCDS6001.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.93|12.93	2.086205|2.086205	0.36855|0.36855	.|.	.|.	ENSG00000155975|ENSG00000155975	ENST00000324849;ENST00000521829|ENST00000324815	T;T|.	0.56611|.	0.45;0.5|.	4.25|4.25	0.217|0.217	0.15264|0.15264	.|.	0.637270|.	0.16206|.	N|.	0.224693|.	T|T	0.23171|0.23171	0.0560|0.0560	N|N	0.15975|0.15975	0.35|0.35	0.24058|0.24058	N|N	0.996027|0.996027	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.06405|.	0.002;0.0|.	T|T	0.27054|0.27054	-1.0085|-1.0085	10|6	0.16896|0.87932	T|D	0.51|0	-1.0447|-1.0447	7.02|7.02	0.24908|0.24908	0.0:0.6541:0.1255:0.2204|0.0:0.6541:0.1255:0.2204	.|.	135;160|.	Q8NEZ2-2;Q8NEZ2|.	.;VP37A_HUMAN|.	S|F	160;135|169	ENSP00000318629:P160S;ENSP00000429680:P135S|.	ENSP00000318629:P160S|ENSP00000318173:S169F	P|S	+|+	1|2	0|0	VPS37A|VPS37A	17176674|17176674	0.965000|0.965000	0.33210|0.33210	0.797000|0.797000	0.32132|0.32132	0.721000|0.721000	0.41392|0.41392	-0.000000|-0.000000	0.12993|0.12993	0.028000|0.028000	0.15324|0.15324	0.579000|0.579000	0.79373|0.79373	CCA|TCC	VPS37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253301.2		+	ENST00000324849.4	Missense_Mutation	SNP	8 : 17132303 - 17132303 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	382	66
DNAH10	196385	broad.mit.edu	37	12	124383316	124383316	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124383316G>A	ENST00000409039.3	+	55	9266	c.9241G>A	c.(9241-9243)Gcc>Acc	p.A3081T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3081	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAAGTCCGCCGCCTGCGAGGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	25	24			NA	NA	12		NA											NA				124383316		2001	4172	6173	SO:0001583	missense			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653	196385	196385		Axonemal dyneins	2941	protein-coding gene	gene with protein product		605884	dynein, axonemal, heavy polypeptide 10		NA		Standard		NM_207437	NA	Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.9241G>A	12.37:g.124383316G>A	ENSP00000386770:p.Ala3081Thr	NA	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164423	0.57476	.	.	ENSG00000197653	ENST00000409039	T	0.74421	-0.84	4.54	4.54	0.55810	Dynein heavy chain, coiled coil stalk (1);	0.064020	0.64402	D	0.000006	D	0.85656	0.5747	M	0.89785	3.06	0.54753	D	0.99998	D	0.65815	0.995	P	0.55667	0.781	D	0.87201	0.2241	10	0.37606	T	0.19	.	17.4778	0.87664	0.0:0.0:1.0:0.0	.	3081	Q8IVF4	DYH10_HUMAN	T	3081	ENSP00000386770:A3081T	ENSP00000386770:A3081T	A	+	1	0	DNAH10	122949269	1.000000	0.71417	0.934000	0.37439	0.142000	0.21351	7.803000	0.85983	2.350000	0.79820	0.462000	0.41574	GCC	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335420.3		+	ENST00000409039.3	Missense_Mutation	SNP	12 : 124383316 - 124383316 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	150	34
ADCY9	115	broad.mit.edu	37	16	4163832	4163832	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4163832A>G	ENST00000294016.3	-	2	2150	c.1612T>C	c.(1612-1614)Tac>Cac	p.Y538H		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	538					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCATCTAAGTATTTTGCGGTG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	113	114			NA	NA	16		NA											NA				4163832		2197	4300	6497	SO:0001583	missense			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	115	115	4.6.1.1	Adenylate cyclases	240	protein-coding gene	gene with protein product		603302			NA	9628827	Standard		NM_001116	NA	Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1612T>C	16.37:g.4163832A>G	ENSP00000294016:p.Tyr538His	NA	A7E2V5|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	37	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	A	14.83	2.653982	0.47362	.	.	ENSG00000162104	ENST00000294016	T	0.81078	-1.45	5.39	5.39	0.77823	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.063531	0.64402	D	0.000003	T	0.80265	0.4591	N	0.16478	0.41	0.50813	D	0.999899	D	0.69078	0.997	D	0.63488	0.915	T	0.79562	-0.1752	10	0.29301	T	0.29	.	15.4464	0.75235	1.0:0.0:0.0:0.0	.	538	O60503	ADCY9_HUMAN	H	538	ENSP00000294016:Y538H	ENSP00000294016:Y538H	Y	-	1	0	ADCY9	4103833	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.339000	0.96797	2.064000	0.61679	0.454000	0.30748	TAC	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438076.1		-	ENST00000294016.3	Missense_Mutation	SNP	16 : 4163832 - 4163832 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	707	147
HSPD1	3329	broad.mit.edu	37	2	198361910	198361910	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198361910G>A	ENST00000388968.3	-	3	648	c.381C>T	c.(379-381)ggC>ggT	p.G127G	HSPD1_ENST00000345042.2_Silent_p.G127G|HSPD1_ENST00000544407.1_Silent_p.G127G	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	127					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			TCTTCTCGAAGCCTTCCTTGG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	117	119			NA	NA	2		NA											NA				198361910		2203	4300	6503	SO:0001819	synonymous_variant			M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381	3329	3329		Heat Shock Proteins / Chaperonins	5261	protein-coding gene	gene with protein product		118190	heat shock 60kD protein 1 (chaperonin), spastic paraplegia 13 (autosomal dominant)	SPG13	NA	1980192, 11898127	Standard	NM_002156	NM_002156	NA	Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.381C>T	2.37:g.198361910G>A		NA	B2R5M6|Q38L19|Q9UCR6	37	CCDS33357.1																																																																																			HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335324.2		-	ENST00000388968.3	Silent	SNP	2 : 198361910 - 198361910 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	481	84
ARMC2	84071	broad.mit.edu	37	6	109283323	109283323	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109283323G>A	ENST00000392644.4	+	15	2313	c.2145G>A	c.(2143-2145)caG>caA	p.Q715Q	ARMC2_ENST00000368972.3_Silent_p.Q550Q|ARMC2_ENST00000481850.1_3'UTR	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	715							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TCATTGTGCAGAACAATGGTG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	63	66			NA	NA	6		NA											NA				109283323		2203	4300	6503	SO:0001819	synonymous_variant			BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690	84071	84071		Armadillo repeat containing	23045	protein-coding gene	gene with protein product					NA		Standard	NM_032131	XM_005267154	NA	Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.2145G>A	6.37:g.109283323G>A		NA	A8K8Y4|Q5VVY8|Q9H0K9	37	CCDS5069.2																																																																																			ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041732.2		+	ENST00000392644.4	Silent	SNP	6 : 109283323 - 109283323 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	90	19
PTAR1	375743	broad.mit.edu	37	9	72347116	72347116	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72347116T>A	ENST00000377200.5	-	3	346	c.344A>T	c.(343-345)aAc>aTc	p.N115I	PTAR1_ENST00000340434.4_Missense_Mutation_p.N194I			Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	194					protein prenylation		protein prenyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						AGCATTATAGTTGCTTGGGTA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	111	114			NA	NA	9		NA											NA				72347116		1969	4150	6119	SO:0001583	missense			BC053622	CCDS47978.1	9q21.13	2008-10-01			ENSG00000188647	ENSG00000188647	375743	375743		Prenyltransferase alpha subunit repeat containing	30449	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_001099666	NM_001099666	NA	Approved		uc004ahj.4	Q7Z6K3	OTTHUMG00000019982	ENST00000377200.5:c.344A>T	9.37:g.72347116T>A	ENSP00000366405:p.Asn115Ile	NA	Q5T7V5|Q5T7V6	37		.	.	.	.	.	.	.	.	.	.	T	29.3	4.997356	0.93227	.	.	ENSG00000188647	ENST00000377200;ENST00000340434	T;T	0.64991	-0.13;-0.13	6.03	6.03	0.97812	Protein prenyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.83261	0.5216	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86704	0.1931	10	0.87932	D	0	.	16.5582	0.84512	0.0:0.0:0.0:1.0	.	194	Q7Z6K3	PTAR1_HUMAN	I	115;194	ENSP00000366405:N115I;ENSP00000344299:N194I	ENSP00000344299:N194I	N	-	2	0	PTAR1	71536936	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.012000	0.88631	2.308000	0.77769	0.533000	0.62120	AAC	PTAR1-001	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000052581.2		-	ENST00000377200.5	Missense_Mutation	SNP	9 : 72347116 - 72347116 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	230	51
RYR2	6262	broad.mit.edu	37	1	237801716	237801716	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237801716C>T	ENST00000366574.2	+	45	7169	c.6852C>T	c.(6850-6852)ggC>ggT	p.G2284G	RYR2_ENST00000542537.1_Silent_p.G2268G|RYR2_ENST00000360064.6_Silent_p.G2282G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2284	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTCTAAGGGCTATCCAGACA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													279	273	275			NA	NA	1		NA											NA				237801716		1918	4137	6055	SO:0001819	synonymous_variant			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626	6262	6262		Ion channels / Ryanodine receptors, EF-hand domain containing	10484	protein-coding gene	gene with protein product		180902	arrhythmogenic right ventricular dysplasia 2	ARVD2	NA	2380170, 8406504, 11159936	Standard	NM_001035	NM_001035	NA	Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6852C>T	1.37:g.237801716C>T		NA	Q15411|Q546N8|Q5T3P2	37	CCDS55691.1																																																																																			RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095402.2		+	ENST00000366574.2	Silent	SNP	1 : 237801716 - 237801716 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	939	164
MKL2	57496	broad.mit.edu	37	16	14341058	14341058	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14341058C>A	ENST00000571589.1	+	12	2113	c.1941C>A	c.(1939-1941)tgC>tgA	p.C647*	MKL2_ENST00000574045.1_Nonsense_Mutation_p.C647*|MKL2_ENST00000318282.5_Nonsense_Mutation_p.C647*|MKL2_ENST00000341243.5_Nonsense_Mutation_p.C636*	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	636					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCCTGACTGCTCCAGCTCCA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	41	41			NA	NA	16		NA											NA				14341058		2197	4300	6497	SO:0001587	stop_gained			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260	57496	57496			29819	protein-coding gene	gene with protein product		609463			NA	10574462	Standard	NM_014048	NM_014048	NA	Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000571589.1:c.1941C>A	16.37:g.14341058C>A	ENSP00000459626:p.Cys647*	NA	A6ND53|Q68CT1|Q6UB16|Q86WW2|Q8N226	37		.	.	.	.	.	.	.	.	.	.	C	40	7.948015	0.98577	.	.	ENSG00000186260	ENST00000318282;ENST00000341243	.	.	.	5.43	4.25	0.50352	.	0.202123	0.53938	D	0.000044	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3376	8.5521	0.33458	0.0:0.7987:0.0:0.2013	.	.	.	.	X	647;636	.	ENSP00000339086:C647X	C	+	3	2	MKL2	14248559	0.961000	0.32948	1.000000	0.80357	0.816000	0.46133	0.562000	0.23531	2.700000	0.92200	0.655000	0.94253	TGC	MKL2-001	NOVEL	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000436621.1		+	ENST00000571589.1	Nonsense_Mutation	SNP	16 : 14341058 - 14341058 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	385	58
MRPL38	64978	broad.mit.edu	37	17	73895245	73895245	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73895245G>A	ENST00000309352.3	-	8	1537	c.1000C>T	c.(1000-1002)Ctt>Ttt	p.L334F	MRPL38_ENST00000409963.3_Missense_Mutation_p.L150F|RP11-552F3.10_ENST00000587267.1_RNA	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	334						actin cytoskeleton|mitochondrion|ribosome				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTACCCAGAAGCTGGTGGAAG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	27	29			NA	NA	17		NA											NA				73895245		2196	4289	6485	SO:0001583	missense			AB051345	CCDS11733.2	17q23-q25	2012-09-13			ENSG00000204316	ENSG00000204316	64978	64978		Mitochondrial ribosomal proteins / large subunits	14033	protein-coding gene	gene with protein product		611844			NA	11543634	Standard	NM_032478	NM_032478	NA	Approved	RPML3, MRP-L3, HSPC262, MGC4810	uc010wso.1	Q96DV4	OTTHUMG00000152977	ENST00000309352.3:c.1000C>T	17.37:g.73895245G>A	ENSP00000308275:p.Leu334Phe	NA	Q96Q66|Q9P0B9	37	CCDS11733.2	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049424	0.75846	.	.	ENSG00000204316	ENST00000309352;ENST00000409963	T;T	0.23147	1.92;1.92	5.12	5.12	0.69794	.	0.281503	0.32533	N	0.005974	T	0.38957	0.1060	L	0.60455	1.87	0.42239	D	0.991927	D	0.65815	0.995	P	0.59221	0.854	T	0.18178	-1.0345	10	0.52906	T	0.07	-3.2241	8.862	0.35263	0.2108:0.0:0.7892:0.0	.	334	Q96DV4	RM38_HUMAN	F	334;150	ENSP00000308275:L334F;ENSP00000387085:L150F	ENSP00000308275:L334F	L	-	1	0	MRPL38	71406840	0.999000	0.42202	1.000000	0.80357	0.968000	0.65278	2.441000	0.44864	2.380000	0.81148	0.511000	0.50034	CTT	MRPL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328829.1		-	ENST00000309352.3	Missense_Mutation	SNP	17 : 73895245 - 73895245 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	66	11
GPER1	2852	broad.mit.edu	37	7	1131452	1131452	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1131452G>A	ENST00000297469.3	+	2	779	c.88G>A	c.(88-90)Gag>Aag	p.E30K	C7orf50_ENST00000488073.1_Intron|GPER1_ENST00000401670.1_Missense_Mutation_p.E30K|C7orf50_ENST00000397100.2_Intron|GPER1_ENST00000397088.3_Missense_Mutation_p.E30K|GPER1_ENST00000397092.1_Missense_Mutation_p.E30K|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000397098.3_Intron	NM_001505.2	NP_001496.1			G protein-coupled estrogen receptor 1	30											NA						CACCTCCCCCGAGCTCAACCT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0									LYS/GLU,LYS/GLU,,,LYS/GLU,	0,4404		0,0,2202	45	44	44		88,88,,,88,	4.6	0	7		44	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,intron,intron,missense,intron	GPER,C7orf50	NM_001039966.1,NM_001098201.1,NM_001134395.1,NM_001134396.1,NM_001505.2,NM_032350.5	56,56,,,56,	0,1,6501	AA,AG,GG	NA	0.0116,0.0,0.0077	benign,benign,,,benign,	30/376,30/376,,,30/376,	1131452	1,13003	2202	4300	6502	SO:0001583	missense			U63917	CCDS5322.1	7p22	2013-08-14	2007-07-03	2013-08-14	ENSG00000164850	ENSG00000164850	2852	2852			4485	protein-coding gene	gene with protein product		601805	G protein-coupled receptor 30	CMKRL2, GPR30, GPER	NA	9479505, 17655271	Standard	NM_001039966	NM_001098201	NA	Approved	FEG-1, GPCR-Br, LERGU, LERGU2, DRY12, LyGPR, CEPR	uc003skb.2	Q99527	OTTHUMG00000023680	ENST00000297469.3:c.88G>A	7.37:g.1131452G>A	ENSP00000297469:p.Glu30Lys	NA		37	CCDS5322.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.239351	0.39598	0.0	1.16E-4	ENSG00000164850	ENST00000401670;ENST00000413368;ENST00000397092;ENST00000297469;ENST00000397088;ENST00000508834	T;T;T;T;T	0.67698	-0.28;0.86;-0.28;-0.28;-0.28	4.63	4.63	0.57726	.	0.400119	0.21712	N	0.070254	T	0.47525	0.1450	L	0.27053	0.805	0.09310	N	1	B	0.27416	0.178	B	0.17098	0.017	T	0.23440	-1.0188	10	0.13470	T	0.59	.	10.1473	0.42771	0.1044:0.0:0.8956:0.0	.	30	Q99527	GPER_HUMAN	K	30	ENSP00000385151:E30K;ENSP00000410487:E30K;ENSP00000380281:E30K;ENSP00000297469:E30K;ENSP00000380277:E30K	ENSP00000297469:E30K	E	+	1	0	GPER	1097978	0.092000	0.21681	0.003000	0.11579	0.003000	0.03518	1.538000	0.36094	2.144000	0.66660	0.655000	0.94253	GAG	GPER1-030	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060001.1		+	ENST00000297469.3	Missense_Mutation	SNP	7 : 1131452 - 1131452 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	379	47
E2F5	1875	broad.mit.edu	37	8	86115389	86115389	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86115389T>C	ENST00000418930.2	+	3	601	c.405T>C	c.(403-405)gcT>gcC	p.A135A	E2F5_ENST00000256117.5_Silent_p.A135A|E2F5_ENST00000517476.1_5'UTR|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000521429.1_5'UTR|E2F5_ENST00000416274.2_Silent_p.A135A			Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	135	Dimerization (Potential).				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						ATCTTAAAGCTGAAATTGAAG	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	54	55			NA	NA	8		NA											NA				86115389		1845	4095	5940	SO:0001819	synonymous_variant			X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740	1875	1875			3119	protein-coding gene	gene with protein product		600967			NA	7892279	Standard	NM_001951	NM_001083588	NA	Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000418930.2:c.405T>C	8.37:g.86115389T>C		NA	Q16601|Q92756	37	CCDS47886.1																																																																																			E2F5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380273.1		+	ENST00000418930.2	Silent	SNP	8 : 86115389 - 86115389 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	118	14
ERBB2	2064	broad.mit.edu	37	17	37882024	37882024	+	Missense_Mutation	SNP	G	G	T	rs138957632	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37882024G>T	ENST00000584450.1	+	23	3005	c.2790G>T	c.(2788-2790)gaG>gaT	p.E930D	ERBB2_ENST00000540147.1_Missense_Mutation_p.E900D|ERBB2_ENST00000406381.2_Missense_Mutation_p.E900D|ERBB2_ENST00000269571.5_Missense_Mutation_p.E930D|ERBB2_ENST00000541774.1_Missense_Mutation_p.E915D|ERBB2_ENST00000445658.2_Missense_Mutation_p.E654D|ERBB2_ENST00000584601.1_Missense_Mutation_p.E900D			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	930	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CAGCCCGGGAGATCCCTGACC	0.592		1	A, Mis, O		breast, ovarian, other tumour types, NSCLC, gastric					TCGA GBM(5;<1E-08)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		17	17q21.1	2064	v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)		E	0								G	ASP/GLU,ASP/GLU	0,4406		0,0,2203	82	73	76		2700,2790	2.4	1	17	dbSNP_134	76	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense	ERBB2	NM_001005862.1,NM_004448.2	45,45	0,5,6498	TT,TG,GG	NA	0.0581,0.0,0.0384	benign,benign	900/1226,930/1256	37882024	5,13001	2203	4300	6503	SO:0001583	missense			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736	2064	2064		CD molecules	3430	protein-coding gene	gene with protein product	neuro/glioblastoma derived oncogene homolog	164870	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)	NGL	NA		Standard		XM_005257140	NA	Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000584450.1:c.2790G>T	17.37:g.37882024G>T	ENSP00000463714:p.Glu930Asp	NA	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4	37		.	.	.	.	.	.	.	.	.	.	G	12.06	1.823520	0.32237	0.0	5.81E-4	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72	5.53	2.44	0.29823	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.71143	0.3305	N	0.24115	0.695	0.80722	D	1	B;B;B	0.20052	0.041;0.013;0.041	B;B;B	0.24394	0.053;0.005;0.053	T	0.61686	-0.7012	9	0.45353	T	0.12	.	9.0774	0.36531	0.2885:0.0:0.7115:0.0	.	654;915;930	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	D	900;915;654;930;900	ENSP00000385185:E900D;ENSP00000446466:E915D;ENSP00000404047:E654D;ENSP00000269571:E930D;ENSP00000443562:E900D	ENSP00000269571:E930D	E	+	3	2	ERBB2	35135550	0.986000	0.35501	1.000000	0.80357	0.991000	0.79684	0.225000	0.17757	0.291000	0.22468	-0.251000	0.11542	GAG	ERBB2-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000445618.1		+	ENST00000584450.1	Missense_Mutation	SNP	17 : 37882024 - 37882024 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	343	67
WDR19	57728	broad.mit.edu	37	4	39219675	39219675	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39219675C>T	ENST00000399820.3	+	14	1583	c.1429C>T	c.(1429-1431)Cgt>Tgt	p.R477C	WDR19_ENST00000288634.7_Missense_Mutation_p.R317C|WDR19_ENST00000506503.1_Silent_p.A475A	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	477					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TGATAAGTGCCGTATCTTATG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													267	265	265			NA	NA	4		NA											NA				39219675		1919	4127	6046	SO:0001583	missense			AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796	57728	57728		WD repeat domain containing, Intraflagellar transport homologs	18340	protein-coding gene	gene with protein product	intraflagellar transport 144 homolog (Chlamydomonas)	608151			NA	12906858, 22019273	Standard		XM_005262658	NA	Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.1429C>T	4.37:g.39219675C>T	ENSP00000382717:p.Arg477Cys	NA	B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	37	CCDS47042.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350198	0.82132	.	.	ENSG00000157796	ENST00000399820;ENST00000288634	D;D	0.96104	-3.91;-3.91	5.5	5.5	0.81552	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.050040	0.85682	D	0.000000	D	0.95884	0.8660	L	0.61036	1.89	0.58432	D	0.999994	D	0.71674	0.998	P	0.54924	0.764	D	0.95584	0.8649	10	0.59425	D	0.04	-16.209	12.9712	0.58513	0.2828:0.7172:0.0:0.0	.	477	Q8NEZ3	WDR19_HUMAN	C	477;317	ENSP00000382717:R477C;ENSP00000288634:R317C	ENSP00000288634:R317C	R	+	1	0	WDR19	38896070	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	3.823000	0.55715	2.600000	0.87896	0.491000	0.48974	CGT	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360689.1		+	ENST00000399820.3	Missense_Mutation	SNP	4 : 39219675 - 39219675 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	969	32
ZNF568	374900	broad.mit.edu	37	19	37413686	37413686	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37413686C>A	ENST00000333987.7	+	3	520	c.14C>A	c.(13-15)tCt>tAt	p.S5Y	ZNF568_ENST00000415168.1_Intron|ZNF568_ENST00000427117.1_Missense_Mutation_p.S5Y|ZNF568_ENST00000455427.2_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACATCTCAATCTTCAGTGATC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	106	106			NA	NA	19		NA											NA				37413686		1984	4162	6146	SO:0001583	missense			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453	374900	374900		Zinc fingers, C2H2-type, -	25392	protein-coding gene	gene with protein product					NA		Standard	NM_198539	NM_198539	NA	Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.14C>A	19.37:g.37413686C>A	ENSP00000334685:p.Ser5Tyr	NA	Q6N060|Q8NA64	37	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	C	9.881	1.201655	0.22121	.	.	ENSG00000198453	ENST00000427117;ENST00000333987;ENST00000444991	T;T;T	0.07327	5.72;3.46;3.2	2.92	1.88	0.25563	.	.	.	.	.	T	0.03695	0.0105	N	0.08118	0	0.09310	N	0.999999	B	0.22604	0.072	B	0.21708	0.036	T	0.47315	-0.9127	9	0.13108	T	0.6	.	5.9183	0.19067	0.0:0.8516:0.0:0.1484	.	5	Q3ZCX4	ZN568_HUMAN	Y	5	ENSP00000407012:S5Y;ENSP00000334685:S5Y;ENSP00000389794:S5Y	ENSP00000334685:S5Y	S	+	2	0	ZNF568	42105526	0.086000	0.21541	0.034000	0.17996	0.270000	0.26580	1.137000	0.31479	0.798000	0.33994	-0.391000	0.06502	TCT	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109572.2		+	ENST00000333987.7	Missense_Mutation	SNP	19 : 37413686 - 37413686 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	283	45
SUPV3L1	6832	broad.mit.edu	37	10	70940063	70940063	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70940063G>A	ENST00000359655.4	+	1	76	c.16G>A	c.(16-18)Gcc>Acc	p.A6T	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	6					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTTCTCCCGTGCCCTATTGTG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	29	28			NA	NA	10		NA											NA				70940063		2202	4299	6501	SO:0001583	missense			AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502	6832	6832			11471	protein-coding gene	gene with protein product		605122	suppressor of var1 (S.cerevisiae) 3-like 1		NA	9925937, 16176273	Standard	NM_003171	XM_005270068	NA	Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.16G>A	10.37:g.70940063G>A	ENSP00000352678:p.Ala6Thr	NA	A8K301|O43630	37	CCDS7287.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.991774	0.54041	.	.	ENSG00000156502	ENST00000359655;ENST00000422378	T;T	0.37584	1.43;1.19	5.78	4.88	0.63580	.	0.224693	0.37136	N	0.002237	T	0.24314	0.0589	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15665	-1.0429	10	0.49607	T	0.09	0.8932	9.357	0.38173	0.0777:0.1447:0.7775:0.0	.	6	Q8IYB8	SUV3_HUMAN	T	6	ENSP00000352678:A6T;ENSP00000409072:A6T	ENSP00000352678:A6T	A	+	1	0	SUPV3L1	70610069	0.249000	0.23941	0.990000	0.47175	0.886000	0.51366	0.284000	0.18864	1.443000	0.47586	0.655000	0.94253	GCC	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048396.2		+	ENST00000359655.4	Missense_Mutation	SNP	10 : 70940063 - 70940063 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	289	62
MUC16	94025	broad.mit.edu	37	19	9090171	9090171	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9090171G>T	ENST00000397910.4	-	1	1847	c.1644C>A	c.(1642-1644)ccC>ccA	p.P548P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	548	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						TTGATGCTGGGGGTCTCTCTG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	72	73			NA	NA	19		NA											NA				9090171		2043	4209	6252	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.1644C>A	19.37:g.9090171G>T		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 : 9090171 - 9090171 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	332	57
ANK2	287	broad.mit.edu	37	4	114279143	114279143	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114279143C>T	ENST00000357077.4	+	38	9422	c.9369C>T	c.(9367-9369)tcC>tcT	p.S3123S	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Silent_p.S3090S|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3090					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCAAAAGGTCCTATGCAGATG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	55	54			NA	NA	4		NA											NA				114279143		2197	4300	6497	SO:0001819	synonymous_variant			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362	287	287		Ankyrin repeat domain containing	493	protein-coding gene	gene with protein product		106410	long (electrocardiographic) QT syndrome 4	LQT4	NA	7485162, 12571597	Standard	NM_001148	NM_001148	NA	Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.9369C>T	4.37:g.114279143C>T		NA	Q01485|Q08AC7|Q08AC8|Q7Z3L5	37	CCDS3702.1																																																																																			ANK2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256422.2		+	ENST00000357077.4	Silent	SNP	4 : 114279143 - 114279143 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	294	53
ATP1A4	480	broad.mit.edu	37	1	160128806	160128806	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160128806T>C	ENST00000368081.4	+	5	1011	c.540T>C	c.(538-540)atT>atC	p.I180I		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	180					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTCTGGTAATTCGAGGAGGAG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	83	86			NA	NA	1		NA											NA				160128806		2203	4300	6503	SO:0001819	synonymous_variant			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681	480	480		ATPases / P-type	14073	protein-coding gene	gene with protein product	sodium/potassium-transporting ATPase subunit alpha-4, sodium pump subunit alpha-4, sodium-potassium ATPase catalytic subunit alpha-4	607321	ATPase, Na+/K+ transporting, alpha polypeptide-like 2	ATP1AL2	NA	1981991, 3035563	Standard	NM_144699	NM_144699	NA	Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.540T>C	1.37:g.160128806T>C		NA	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	37	CCDS1197.1																																																																																			ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077415.1		+	ENST00000368081.4	Silent	SNP	1 : 160128806 - 160128806 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	279	45
DYRK1B	9149	broad.mit.edu	37	19	40316646	40316646	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40316646C>T	ENST00000593685.1	-	11	2067	c.1599G>A	c.(1597-1599)tcG>tcA	p.S533S	DYRK1B_ENST00000323039.5_Silent_p.S533S|DYRK1B_ENST00000597639.1_Silent_p.S505S|DYRK1B_ENST00000348817.3_Silent_p.S505S|DYRK1B_ENST00000430012.2_Silent_p.S493S			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	533					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CAGGCAGTGACGAGGCAGAGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	23	21			NA	NA	19		NA											NA				40316646		2154	4237	6391	SO:0001819	synonymous_variant			Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	9149	9149	2.7.12.1		3092	protein-coding gene	gene with protein product	minibrain-related kinase	604556			NA	9918863	Standard	NM_004714	XM_005259395	NA	Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.1599G>A	19.37:g.40316646C>T		NA	O75258|O75788|O75789	37	CCDS12543.1																																																																																			DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462874.2		-	ENST00000593685.1	Silent	SNP	19 : 40316646 - 40316646 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	331	17
UGT3A1	133688	broad.mit.edu	37	5	35965841	35965841	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35965841C>T	ENST00000507113.1	-	3	580	c.388G>A	c.(388-390)Gcc>Acc	p.A130T	UGT3A1_ENST00000274278.3_Missense_Mutation_p.A164T|UGT3A1_ENST00000503189.1_Missense_Mutation_p.A164T|UGT3A1_ENST00000333811.4_Missense_Mutation_p.A110T|UGT3A1_ENST00000513233.1_Intron			Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	164						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGAAGAATGGCCACAAATGGT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	70	71			NA	NA	5		NA											NA				35965841		2203	4300	6503	SO:0001583	missense				CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626	133688	133688		UDP glucuronosyltransferases	26625	protein-coding gene	gene with protein product					NA		Standard	NM_152404	NM_152404	NA	Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000507113.1:c.388G>A	5.37:g.35965841C>T	ENSP00000426100:p.Ala130Thr	NA	Q8NAW4|Q96DM6	37		.	.	.	.	.	.	.	.	.	.	C	14.48	2.547282	0.45383	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113;ENST00000333811	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	2.93	-1.91	0.07641	.	0.258333	0.29119	N	0.013088	T	0.52901	0.1763	L	0.36672	1.1	0.09310	N	1	P;P;B;B	0.49358	0.923;0.571;0.317;0.237	P;B;B;B	0.51550	0.673;0.292;0.267;0.292	T	0.56475	-0.7973	10	0.72032	D	0.01	.	12.1012	0.53785	0.2525:0.7475:0.0:0.0	.	130;164;110;164	E9PD17;B7Z8Q8;G5E961;Q6NUS8	.;.;.;UD3A1_HUMAN	T	164;164;130;110	ENSP00000274278:A164T;ENSP00000427079:A164T;ENSP00000426100:A130T;ENSP00000328033:A110T	ENSP00000274278:A164T	A	-	1	0	UGT3A1	36001598	0.000000	0.05858	0.005000	0.12908	0.436000	0.31835	-0.692000	0.05127	-0.086000	0.12550	0.313000	0.20887	GCC	UGT3A1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000367193.2		-	ENST00000507113.1	Missense_Mutation	SNP	5 : 35965841 - 35965841 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	326	30
SLC10A3	8273	broad.mit.edu	37	X	153716810	153716810	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153716810G>T	ENST00000393586.1	-	3	732	c.635C>A	c.(634-636)cCc>cAc	p.P212H	SLC10A3_ENST00000369649.4_Missense_Mutation_p.P128H|SLC10A3_ENST00000263512.4_Missense_Mutation_p.P157H|SLC10A3_ENST00000393587.4_Missense_Mutation_p.P157H			P09131	P3_HUMAN	solute carrier family 10, member 3	157					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AATCAGTGTGGGCGGGGCCTC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	66	66			NA	NA	X		NA											NA				153716810		2203	4300	6503	SO:0001583	missense			X12458	CCDS14755.1, CCDS48195.1	Xq28	2013-07-18	2013-07-18		ENSG00000126903	ENSG00000126903	8273	8273		Solute carriers	22979	protein-coding gene	gene with protein product		312090			NA	8733135	Standard	NM_019848	NM_019848	NA	Approved	P3, DXS253E	uc004flq.3	P09131	OTTHUMG00000013369	ENST00000393586.1:c.635C>A	X.37:g.153716810G>T	ENSP00000377211:p.Pro212His	NA	Q5HY79	37		.	.	.	.	.	.	.	.	.	.	G	10.16	1.272864	0.23221	.	.	ENSG00000126903	ENST00000369649;ENST00000393586;ENST00000263512;ENST00000393587;ENST00000453912	T;T;T;T	0.10005	3.08;2.92;2.97;2.97	4.83	4.83	0.62350	.	0.075236	0.53938	U	0.000052	T	0.32526	0.0832	M	0.73598	2.24	0.46901	D	0.999249	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.03840	-1.0999	10	0.59425	D	0.04	-11.0926	13.8157	0.63290	0.0:0.0:1.0:0.0	.	128;157	Q9BSL2;P09131	.;P3_HUMAN	H	128;212;157;157;157	ENSP00000358663:P128H;ENSP00000377211:P212H;ENSP00000263512:P157H;ENSP00000377212:P157H	ENSP00000263512:P157H	P	-	2	0	SLC10A3	153370004	1.000000	0.71417	0.151000	0.22473	0.029000	0.11900	3.852000	0.55934	2.229000	0.72834	0.600000	0.82982	CCC	SLC10A3-004	PUTATIVE	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000316148.2		-	ENST00000393586.1	Missense_Mutation	SNP	X : 153716810 - 153716810 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	521	157
SLC6A2	6530	broad.mit.edu	37	16	55706056	55706056	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55706056T>C	ENST00000379906.2	+	3	868	c.613T>C	c.(613-615)Tac>Cac	p.Y205H	SLC6A2_ENST00000219833.8_Missense_Mutation_p.Y205H|SLC6A2_ENST00000568943.1_Missense_Mutation_p.Y205H|SLC6A2_ENST00000414754.3_Missense_Mutation_p.Y205H|SLC6A2_ENST00000567238.1_Missense_Mutation_p.Y100H|SLC6A2_ENST00000566163.1_Missense_Mutation_p.Y205H|SLC6A2_ENST00000561820.1_Missense_Mutation_p.Y205H	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	205					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GTACTCCAAGTACAAGTTCAC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	87	91			NA	NA	16		NA											NA				55706056		2198	4300	6498	SO:0001583	missense				CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546	6530	6530		Solute carriers	11048	protein-coding gene	gene with protein product	norepinephrine transporter	163970	solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2	NET1, NAT1, SLC6A5	NA	2008212	Standard		NM_001043	NA	Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.613T>C	16.37:g.55706056T>C	ENSP00000369237:p.Tyr205His	NA	B2R707	37	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	T	12.95	2.092195	0.36952	.	.	ENSG00000103546	ENST00000414754;ENST00000379906;ENST00000219833	T;T;T	0.73897	-0.79;-0.79;-0.79	5.8	4.65	0.58169	.	0.307757	0.37012	N	0.002281	T	0.60983	0.2311	L	0.31120	0.905	0.51233	D	0.999914	B;B;B	0.15930	0.006;0.015;0.006	B;B;B	0.21546	0.013;0.035;0.013	T	0.55003	-0.8208	10	0.15066	T	0.55	.	11.8823	0.52581	0.1306:0.0:0.0:0.8694	.	205;100;205	Q96KH8;B4DX48;P23975	.;.;SC6A2_HUMAN	H	205	ENSP00000394956:Y205H;ENSP00000369237:Y205H;ENSP00000219833:Y205H	ENSP00000219833:Y205H	Y	+	1	0	SLC6A2	54263557	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.668000	0.46816	2.213000	0.71641	0.528000	0.53228	TAC	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256922.2		+	ENST00000379906.2	Missense_Mutation	SNP	16 : 55706056 - 55706056 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	313	53
FAM105B	0	broad.mit.edu	37	5	14692988	14692988	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14692988C>A	ENST00000284274.4	+	7	968	c.890C>A	c.(889-891)gCt>gAt	p.A297D		NM_138348.4	NP_612357.4	Q96BN8	F105B_HUMAN		297										breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					CTTGCCTATGCTGTGCGCCAC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	153	153			NA	NA	5		NA											NA				14692988		2046	4198	6244	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000284274.4:c.890C>A	5.37:g.14692988C>A	ENSP00000284274:p.Ala297Asp	NA	D3DTD3|Q8NAS0|Q96IA3	37	CCDS43302.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.366881|5.366881	0.95900|0.95900	.|.	.|.	ENSG00000154124|ENSG00000154124	ENST00000284274|ENST00000506417	T|.	0.19669|.	2.13|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.052923|.	0.85682|.	D|.	0.000000|.	T|.	0.76183|.	0.3952|.	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.74674|.	0.984|.	T|.	0.74340|.	-0.3697|.	10|.	0.72032|.	D|.	0.01|.	-15.212|-15.212	18.8787|18.8787	0.92349|0.92349	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	297|.	Q96BN8|.	F105B_HUMAN|.	D|X	297|28	ENSP00000284274:A297D|.	ENSP00000284274:A297D|.	A|C	+|+	2|3	0|2	FAM105B|FAM105B	14745988|14745988	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.976000|0.976000	0.68499|0.68499	7.488000|7.488000	0.81441|0.81441	2.692000|2.692000	0.91855|0.91855	0.655000|0.655000	0.94253|0.94253	GCT|TGC	FAM105B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366012.1		+	ENST00000284274.4	Missense_Mutation	SNP	5 : 14692988 - 14692988 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	465	14
NEB	4703	broad.mit.edu	37	2	152528985	152528985	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152528985G>A	ENST00000603639.1	-	35	4196	c.4197C>T	c.(4195-4197)gtC>gtT	p.V1399V	NEB_ENST00000604864.1_Silent_p.V1399V|NEB_ENST00000427231.2_Silent_p.V1399V|NEB_ENST00000397345.3_Silent_p.V1399V|NEB_ENST00000172853.10_Silent_p.V1399V|NEB_ENST00000409198.1_Silent_p.V1399V			P20929	NEBU_HUMAN	nebulin	1399					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATTGGTAGCGACATCCTGGG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													187	178	181			NA	NA	2		NA											NA				152528985		2070	4220	6290	SO:0001819	synonymous_variant			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091	4703	4703			7720	protein-coding gene	gene with protein product	nemaline myopathy type 2	161650		NEM2	NA	10051637, 9359044	Standard	NM_004543	NM_001164507	NA	Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000603639.1:c.4197C>T	2.37:g.152528985G>A		NA	Q15346|Q53QQ2|Q53TG8	37	CCDS54407.1																																																																																			NEB-017	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000469059.2		-	ENST00000603639.1	Silent	SNP	2 : 152528985 - 152528985 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	93
MLXIP	22877	broad.mit.edu	37	12	122618405	122618405	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122618405C>T	ENST00000319080.7	+	9	1735	c.1603C>T	c.(1603-1605)Cgg>Tgg	p.R535W	MLXIP_ENST00000538698.1_Missense_Mutation_p.R142W|MLXIP_ENST00000377037.2_Missense_Mutation_p.R125W			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		TCCCCAGCCACGGTTAACTTT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(105;787 1493 16200 18566 52466)							NA				0													23	27	26			NA	NA	12		NA											NA				122618405		1982	4159	6141	SO:0001583	missense			AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727	22877	22877		Basic helix-loop-helix proteins	17055	protein-coding gene	gene with protein product		608090			NA	10048485, 11073985	Standard	NM_014938	XM_006719290	NA	Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.1603C>T	12.37:g.122618405C>T	ENSP00000312834:p.Arg535Trp	NA	A7MBN0|O94945|Q7LC47|Q8IXP1|Q8TAH9|Q8WVQ0|Q8WYA5	37		.	.	.	.	.	.	.	.	.	.	C	15.05	2.717397	0.48622	.	.	ENSG00000175727	ENST00000319080;ENST00000538698;ENST00000539039;ENST00000377037	T;T;T	0.81415	-1.49;-1.49;-1.49	5.09	2.06	0.26882	.	0.532223	0.19799	N	0.105790	T	0.78723	0.4328	.	.	.	0.09310	N	1	D;D	0.65815	0.995;0.992	P;P	0.50708	0.648;0.513	T	0.67987	-0.5528	9	0.38643	T	0.18	0.314	8.0807	0.30744	0.0:0.7134:0.0:0.2866	.	535;535	Q9HAP2-3;Q9HAP2	.;MLXIP_HUMAN	W	535;142;142;125	ENSP00000312834:R535W;ENSP00000440769:R142W;ENSP00000366236:R125W	ENSP00000312834:R535W	R	+	1	2	MLXIP	121184358	0.000000	0.05858	0.053000	0.19242	0.991000	0.79684	0.859000	0.27858	0.098000	0.17522	0.655000	0.94253	CGG	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000401718.2		+	ENST00000319080.7	Missense_Mutation	SNP	12 : 122618405 - 122618405 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	125	14
RAB8A	4218	broad.mit.edu	37	19	16232605	16232605	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16232605C>A	ENST00000300935.3	+	3	504	c.231C>A	c.(229-231)taC>taA	p.Y77*	RAB8A_ENST00000586682.1_Nonsense_Mutation_p.Y77*	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family	77					cilium assembly|Golgi vesicle fusion to target membrane|protein transport|small GTPase mediated signal transduction|vesicle docking involved in exocytosis	Golgi apparatus|nonmotile primary cilium|perinuclear region of cytoplasm|plasma membrane	GTP binding|protein binding			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						CAACGGCCTACTACAGGGGTG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													224	191	202			NA	NA	19		NA											NA				16232605		2203	4300	6503	SO:0001587	stop_gained				CCDS12339.1	19p13.2-p13.1	2008-05-14	2004-01-30	2004-01-30		ENSG00000167461	4218	4218		RAB, member RAS oncogene	7007	protein-coding gene	gene with protein product		165040	mel transforming oncogene (derived from cell line NK14)	MEL	NA	1886711, 8408203	Standard	NM_005370	NM_005370	NA	Approved	RAB8	uc002ndn.4	P61006		ENST00000300935.3:c.231C>A	19.37:g.16232605C>A	ENSP00000300935:p.Tyr77*	NA	P24407|Q6FHV5	37	CCDS12339.1	.	.	.	.	.	.	.	.	.	.	C	34	5.382872	0.95967	.	.	ENSG00000167461	ENST00000300935	.	.	.	4.6	3.56	0.40772	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.1928	0.31379	0.0:0.8137:0.0:0.1863	.	.	.	.	X	77	.	ENSP00000300935:Y77X	Y	+	3	2	RAB8A	16093605	0.997000	0.39634	1.000000	0.80357	0.536000	0.34869	0.511000	0.22739	0.942000	0.37525	0.305000	0.20034	TAC	RAB8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460186.1		+	ENST00000300935.3	Nonsense_Mutation	SNP	19 : 16232605 - 16232605 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	533	93
LMBR1	64327	broad.mit.edu	37	7	156589187	156589187	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156589187C>A	ENST00000353442.5	-	5	556		c.e5-1		LMBR1_ENST00000354505.4_Splice_Site|LMBR1_ENST00000540390.1_Splice_Site|LMBR1_ENST00000359422.4_5'UTR	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	NA						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		TTCCACAAACCTATAAAAAGG	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	40	42			NA	NA	7		NA											NA				156589187		2203	4300	6503	SO:0001630	splice_region_variant			AF107454	CCDS5945.1	7q36.3	2013-08-05	2013-08-05	2005-07-25	ENSG00000105983	ENSG00000105983	64327	64327			13243	protein-coding gene	gene with protein product		605522	chromosome 7 open reading frame 2, limb region 1 homolog (mouse)	C7orf2	NA	10329000, 11090342	Standard	NM_022458	NM_022458	NA	Approved	ACHP, FLJ11665, ZRS	uc003wmw.4	Q8WVP7	OTTHUMG00000151510	ENST00000353442.5:c.320-1G>T	7.37:g.156589187C>A		NA	A4D242|Q8N3E3|Q96QZ5|Q9H5N0|Q9HAG9|Q9UDN5|Q9Y6U2	37	CCDS5945.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771340	0.49680	.	.	ENSG00000105983	ENST00000353442;ENST00000415428;ENST00000354505;ENST00000540390;ENST00000347571	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0087	0.89217	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LMBR1	156281948	1.000000	0.71417	0.990000	0.47175	0.790000	0.44656	7.064000	0.76721	2.326000	0.78906	0.485000	0.47835	.	LMBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347939.3	Intron	-	ENST00000353442.5	Splice_Site	SNP	7 : 156589187 - 156589187 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	68	14
OBSCN	84033	broad.mit.edu	37	1	228459903	228459903	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228459903C>A	ENST00000570156.2	+	20	6041	c.5967C>A	c.(5965-5967)tcC>tcA	p.S1989S	OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Intron|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000359599.6_Silent_p.S461S|OBSCN_ENST00000284548.11_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	970	Ig-like 20.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGCGGCTCTCCTTCCATCTGC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	37	37			NA	NA	1		NA											NA				228459903		875	1991	2866	SO:0001819	synonymous_variant			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358	84033	84033		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	15719	protein-coding gene	gene with protein product		608616			NA	11448995, 11814696	Standard	NM_052843	NM_001098623	NA	Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000570156.2:c.5967C>A	1.37:g.228459903C>A		NA	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	37	CCDS59204.1																																																																																			OBSCN-011	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421354.3		+	ENST00000570156.2	Silent	SNP	1 : 228459903 - 228459903 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	268	52
FAM71B	153745	broad.mit.edu	37	5	156590053	156590053	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156590053A>G	ENST00000302938.4	-	2	1318	c.1223T>C	c.(1222-1224)aTg>aCg	p.M408T		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	408						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCGTTCACTCATGTAGCCTTC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	90	89			NA	NA	5		NA											NA				156590053		2203	4300	6503	SO:0001583	missense				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613	153745	153745			28397	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_130899	NM_130899	NA	Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1223T>C	5.37:g.156590053A>G	ENSP00000305596:p.Met408Thr	NA	Q1EDD9|Q8TC64|Q96LY8	37	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	A	1.299	-0.605410	0.03717	.	.	ENSG00000170613	ENST00000302938	T	0.18338	2.22	4.26	4.26	0.50523	.	0.133648	0.34828	N	0.003660	T	0.16514	0.0397	M	0.72118	2.19	0.34314	D	0.685761	B	0.26744	0.158	B	0.17433	0.018	T	0.12915	-1.0529	10	0.09590	T	0.72	-25.7394	10.3394	0.43868	1.0:0.0:0.0:0.0	.	408	Q8TC56	FA71B_HUMAN	T	408	ENSP00000305596:M408T	ENSP00000305596:M408T	M	-	2	0	FAM71B	156522631	1.000000	0.71417	0.578000	0.28575	0.030000	0.12068	3.902000	0.56310	1.853000	0.53794	0.459000	0.35465	ATG	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252570.2		-	ENST00000302938.4	Missense_Mutation	SNP	5 : 156590053 - 156590053 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	508	90
ARHGEF11	9826	broad.mit.edu	37	1	156913859	156913859	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156913859G>T	ENST00000368194.3	-	32	4142	c.3103C>A	c.(3103-3105)Ctg>Atg	p.L1035M	ARHGEF11_ENST00000361409.2_Missense_Mutation_p.L995M|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.L411M	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	995	PH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTCTGTAGCAGCACTAGGAGG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	101	105			NA	NA	1		NA											NA				156913859		2203	4300	6503	SO:0001583	missense			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694	9826	9826		Rho guanine nucleotide exchange factors	14580	protein-coding gene	gene with protein product		605708			NA	10526156, 9205841	Standard	NM_198236	NM_014784	NA	Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000368194.3:c.3103C>A	1.37:g.156913859G>T	ENSP00000357177:p.Leu1035Met	NA	D3DVD0|Q5VY40	37	CCDS1163.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736121	0.69189	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.67523	-0.27;-0.27;-0.27	5.18	1.18	0.20946	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.42682	D	0.000677	T	0.75649	0.3878	M	0.88775	2.98	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.77208	-0.2672	10	0.72032	D	0.01	-11.0609	8.5813	0.33630	0.3803:0.0:0.6197:0.0	.	411;995;1035	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	M	1035;995;411	ENSP00000357177:L1035M;ENSP00000354644:L995M;ENSP00000313470:L411M	ENSP00000313470:L411M	L	-	1	2	ARHGEF11	155180483	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	2.756000	0.47549	0.345000	0.23873	0.561000	0.74099	CTG	ARHGEF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000098930.1		-	ENST00000368194.3	Missense_Mutation	SNP	1 : 156913859 - 156913859 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	604	89
PRMT7	54496	broad.mit.edu	37	16	68373238	68373238	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68373238C>T	ENST00000339507.5	+	8	1348	c.518C>T	c.(517-519)gCc>gTc	p.A173V	PRMT7_ENST00000348497.4_Missense_Mutation_p.A99V|PRMT7_ENST00000564441.1_3'UTR|PRMT7_ENST00000449359.3_Missense_Mutation_p.A123V|PRMT7_ENST00000441236.1_Missense_Mutation_p.A123V			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	173					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		AATTGTGAGGCCGTGCCCCAC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	58	60			NA	NA	16		NA											NA				68373238		2198	4300	6498	SO:0001583	missense			AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600	54496	54496		Protein arginine methyltransferases	25557	protein-coding gene	gene with protein product		610087			NA	15044439	Standard	NM_019023	NM_001184824	NA	Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.518C>T	16.37:g.68373238C>T	ENSP00000343103:p.Ala173Val	NA	B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	37	CCDS10866.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886249	0.51908	.	.	ENSG00000132600	ENST00000449359;ENST00000441236;ENST00000348497;ENST00000339507	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	5.77	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.28830	0.0715	L	0.32530	0.975	0.80722	D	1	P;D;B;D	0.76494	0.725;0.999;0.04;0.984	P;D;B;D	0.77557	0.618;0.99;0.023;0.913	T	0.06144	-1.0843	10	0.02654	T	1	-10.0304	13.0255	0.58812	0.0:0.9217:0.0:0.0783	.	123;99;173;173	Q9NVM4-3;Q9NVM4-2;Q9NVM4;Q9NVM4-4	.;.;ANM7_HUMAN;.	V	123;123;99;173	ENSP00000414716:A123V;ENSP00000409324:A123V;ENSP00000345775:A99V;ENSP00000343103:A173V	ENSP00000343103:A173V	A	+	2	0	PRMT7	66930739	1.000000	0.71417	0.987000	0.45799	0.584000	0.36387	5.604000	0.67626	1.575000	0.49775	0.655000	0.94253	GCC	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268892.3		+	ENST00000339507.5	Missense_Mutation	SNP	16 : 68373238 - 68373238 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	350	58
SPC25	57405	broad.mit.edu	37	2	169730185	169730185	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:169730185A>C	ENST00000282074.2	-	6	601	c.460T>G	c.(460-462)Ttg>Gtg	p.L154V		NM_020675.3	NP_065726.1	Q9HBM1	SPC25_HUMAN	SPC25, NDC80 kinetochore complex component	154	Interaction with the C-terminus of SPBC24.				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						ATAAACTGCAATTTCTCACCT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	98	95			NA	NA	2		NA											NA				169730185		2203	4298	6501	SO:0001583	missense			AF225416	CCDS2229.1	2q31.1	2013-06-05	2013-06-05	2007-03-02	ENSG00000152253	ENSG00000152253	57405	57405			24031	protein-coding gene	gene with protein product		609395	spindle pole body component 25 homolog (S. cerevisiae), SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae)	SPBC25	NA	12477932	Standard	NM_020675	NM_020675	NA	Approved	MGC22228, AD024	uc002uel.3	Q9HBM1	OTTHUMG00000132181	ENST00000282074.2:c.460T>G	2.37:g.169730185A>C	ENSP00000282074:p.Leu154Val	NA	A8K4X8|D3DPC0	37	CCDS2229.1	.	.	.	.	.	.	.	.	.	.	A	18.79	3.699704	0.68501	.	.	ENSG00000152253	ENST00000282074	.	.	.	5.85	0.289	0.15723	.	0.000000	0.64402	D	0.000001	T	0.67107	0.2858	M	0.62154	1.92	0.51767	D	0.99993	D	0.76494	0.999	D	0.77004	0.989	T	0.63980	-0.6514	9	0.49607	T	0.09	-11.3603	8.7529	0.34629	0.5829:0.0:0.4171:0.0	.	154	Q9HBM1	SPC25_HUMAN	V	154	.	ENSP00000282074:L154V	L	-	1	2	SPC25	169438431	0.869000	0.29996	0.997000	0.53966	0.981000	0.71138	0.940000	0.28992	0.124000	0.18369	0.402000	0.26972	TTG	SPC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255233.2		-	ENST00000282074.2	Missense_Mutation	SNP	2 : 169730185 - 169730185 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	446	106
TMPRSS12	283471	broad.mit.edu	37	12	51279109	51279109	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51279109G>T	ENST00000551456.1	+	4	778	c.733G>T	c.(733-735)Gga>Tga	p.G245*	TMPRSS12_ENST00000398458.3_Nonsense_Mutation_p.G245*			Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	245	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						GAGTTATGGGGGAATAATTCC	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													180	173	175			NA	NA	12		NA											NA				51279109		1842	4093	5935	SO:0001587	stop_gained			BC048112	CCDS44881.1	12q13.12	2014-08-12	2010-04-21		ENSG00000186452	ENSG00000186452	283471	283471		Serine peptidases / Transmembrane	28779	protein-coding gene	gene with protein product			transmembrane protease, serine 12		NA		Standard	NM_182559	NM_182559	NA	Approved	MGC57341, CT151	uc001rwx.4	Q86WS5	OTTHUMG00000169483	ENST00000551456.1:c.733G>T	12.37:g.51279109G>T	ENSP00000447259:p.Gly245*	NA	B9ZVX2	37		.	.	.	.	.	.	.	.	.	.	G	14.97	2.695336	0.48202	.	.	ENSG00000186452	ENST00000551456;ENST00000398458	.	.	.	5.22	3.4	0.38934	.	0.539313	0.16944	N	0.193191	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-2.5652	8.296	0.31986	0.1833:0.0:0.8167:0.0	.	.	.	.	X	245	.	ENSP00000381476:G245X	G	+	1	0	TMPRSS12	49565376	0.336000	0.24757	0.001000	0.08648	0.129000	0.20672	2.251000	0.43187	0.706000	0.31912	0.557000	0.71058	GGA	TMPRSS12-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000404288.1		+	ENST00000551456.1	Nonsense_Mutation	SNP	12 : 51279109 - 51279109 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	847	53
BEND6	221336	broad.mit.edu	37	6	56857269	56857269	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56857269G>A	ENST00000370746.3	+	3	483	c.214G>A	c.(214-216)Gcc>Acc	p.A72T	BEND6_ENST00000370750.2_Missense_Mutation_p.A72T|BEND6_ENST00000370748.3_Missense_Mutation_p.A72T|BEND6_ENST00000370745.1_Missense_Mutation_p.A72T	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	72										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						AGAATTGTGCGCCAAAATAAA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA	2,3626		0,2,1812	128	131	130		214	-2.2	0.7	6		130	0,8156		0,0,4078	no	missense	BEND6	NM_152731.2	58	0,2,5890	AA,AG,GG	NA	0.0,0.0551,0.017	benign	72/280	56857269	2,11782	1814	4078	5892	SO:0001583	missense			AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917	221336	221336		BEN domain containing	20871	protein-coding gene	gene with protein product			chromosome 6 open reading frame 65	C6orf65	NA		Standard	NM_152731	NM_152731	NA	Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914	ENST00000370746.3:c.214G>A	6.37:g.56857269G>A	ENSP00000359782:p.Ala72Thr	NA	Q4G0W8|Q8N662|Q96NS6	37	CCDS43476.1	.	.	.	.	.	.	.	.	.	.	G	9.859	1.195656	0.22037	5.51E-4	0.0	ENSG00000151917	ENST00000322055;ENST00000370750;ENST00000370748;ENST00000370746;ENST00000370745	.	.	.	5.04	-2.23	0.06930	.	0.684405	0.13848	N	0.358570	T	0.09818	0.0241	N	0.12182	0.205	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.40813	-0.9543	9	0.02654	T	1	0.3172	10.0363	0.42131	0.3402:0.0:0.6598:0.0	.	72	Q5SZJ8	BEND6_HUMAN	T	72	.	ENSP00000322773:A72T	A	+	1	0	BEND6	56965228	0.944000	0.32072	0.741000	0.31004	0.960000	0.62799	0.361000	0.20267	-0.276000	0.09206	-0.137000	0.14449	GCC	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041032.4		+	ENST00000370746.3	Missense_Mutation	SNP	6 : 56857269 - 56857269 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	672	138
RNF126	55658	broad.mit.edu	37	19	651781	651781	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:651781G>A	ENST00000292363.5	-	4	428	c.273C>T	c.(271-273)ttC>ttT	p.F91F		NM_194460.2	NP_919442.1	Q9BV68	RN126_HUMAN	ring finger protein 126	91							protein binding|zinc ion binding			lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGGATCTCGAAGCTGTCAT	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	42	44			NA	NA	19		NA											NA				651781		2203	4300	6503	SO:0001819	synonymous_variant			BC025374	CCDS12039.1	19p13.3	2013-01-09				ENSG00000070423	55658	55658		RING-type (C3HC4) zinc fingers	21151	protein-coding gene	gene with protein product		615177			NA		Standard	NM_017876	NM_194460	NA	Approved	FLJ20552	uc010drs.3	Q9BV68		ENST00000292363.5:c.273C>T	19.37:g.651781G>A		NA	Q9NWX1	37	CCDS12039.1																																																																																			RNF126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452104.2		-	ENST00000292363.5	Silent	SNP	19 : 651781 - 651781 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	269	45
DST	667	broad.mit.edu	37	6	56716322	56716322	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56716322A>C	ENST00000370754.5	-	4	497	c.498T>G	c.(496-498)tcT>tcG	p.S166S	RP11-472M19.2_ENST00000426453.1_RNA			Q03001	DYST_HUMAN	dystonin	0	Actin-binding.|CH 2.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATGCGGAGCCAGATTTCTGGC	0.512		NA									OREG0017515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	52	53			NA	NA	6		NA											NA				56716322		1568	3582	5150	SO:0001819	synonymous_variant			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914	667	667		EF-hand domain containing	1090	protein-coding gene	gene with protein product		113810	bullous pemphigoid antigen 1, 230/240kDa	BPAG1	NA	2461961, 2276744	Standard	NM_001723	NM_001144770	NA	Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370754.5:c.498T>G	6.37:g.56716322A>C		1017	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	37																																																																																				DST-202	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding			-	ENST00000370754.5	Silent	SNP	6 : 56716322 - 56716322 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	161	26
TESK1	7016	broad.mit.edu	37	9	35609358	35609358	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35609358C>A	ENST00000336395.5	+	10	1750	c.1500C>A	c.(1498-1500)tcC>tcA	p.S500S	TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	500					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCACCTGTTCCTCGGCCTCCC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	38	37			NA	NA	9		NA											NA				35609358		2194	4287	6481	SO:0001819	synonymous_variant			D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	7016	7016	2.7.12.1		11731	protein-coding gene	gene with protein product	testis-specific kinase-1, testis specific kinase-1	601782			NA	8537404	Standard	NM_006285	NM_006285	NA	Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.1500C>A	9.37:g.35609358C>A		NA	Q8IXZ8	37	CCDS6580.1																																																																																			TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052314.1		+	ENST00000336395.5	Silent	SNP	9 : 35609358 - 35609358 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	466	21
PHF10	55274	broad.mit.edu	37	6	170118947	170118947	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170118947A>G	ENST00000339209.4	-	3	385	c.262T>C	c.(262-264)Tat>Cat	p.Y88H	PHF10_ENST00000464779.1_5'UTR|PHF10_ENST00000366780.4_Missense_Mutation_p.Y88H	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	88					nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		TGAAGCATATAGTATTCTCCT	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	84	82			NA	NA	6		NA											NA				170118947		2203	4291	6494	SO:0001583	missense			AF338735	CCDS5308.2, CCDS5309.2	6q27	2014-05-13			ENSG00000130024	ENSG00000130024	55274	55274		Zinc fingers, PHD-type	18250	protein-coding gene	gene with protein product		613069			NA	11827455	Standard	NM_018288	NM_018288	NA	Approved	FLJ10975, XAP135, BAF45a	uc011egy.2	Q8WUB8	OTTHUMG00000016058	ENST00000339209.4:c.262T>C	6.37:g.170118947A>G	ENSP00000341805:p.Tyr88His	NA	Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	37	CCDS5308.2	.	.	.	.	.	.	.	.	.	.	A	25.5	4.646541	0.87958	.	.	ENSG00000130024	ENST00000366780;ENST00000339209	T;T	0.29917	1.55;1.55	5.49	5.49	0.81192	.	.	.	.	.	T	0.45935	0.1367	M	0.69823	2.125	0.46376	D	0.999012	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.986	T	0.50882	-0.8775	9	0.87932	D	0	.	13.6157	0.62105	1.0:0.0:0.0:0.0	.	88;88	Q8WUB8-2;Q8WUB8	.;PHF10_HUMAN	H	88	ENSP00000355743:Y88H;ENSP00000341805:Y88H	ENSP00000341805:Y88H	Y	-	1	0	PHF10	169860872	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.594000	0.90836	2.199000	0.70637	0.455000	0.32223	TAT	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346732.1		-	ENST00000339209.4	Missense_Mutation	SNP	6 : 170118947 - 170118947 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	535	91
ATP2B4	493	broad.mit.edu	37	1	203678519	203678519	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203678519T>C	ENST00000357681.5	+	11	2771	c.1648T>C	c.(1648-1650)Tat>Cat	p.Y550H	ATP2B4_ENST00000391954.2_Missense_Mutation_p.Y550H|ATP2B4_ENST00000367219.3_Missense_Mutation_p.Y538H|ATP2B4_ENST00000341360.2_Missense_Mutation_p.Y550H|ATP2B4_ENST00000367218.3_Missense_Mutation_p.Y550H	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	550					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAAGCAGGATTATCAGGCTGT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	87	92			NA	NA	1		NA											NA				203678519		2203	4300	6503	SO:0001583	missense			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	493	493	3.6.3.8	ATPases / P-type	817	protein-coding gene	gene with protein product	plasma membrane calcium-transporting ATPase 4	108732	matrix-remodelling associated 1	ATP2B2, MXRA1	NA	1674727	Standard	NM_001001396	NM_001001396	NA	Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.1648T>C	1.37:g.203678519T>C	ENSP00000350310:p.Tyr550His	NA	B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	37	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	T	17.21	3.330841	0.60853	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84;-3.84	5.52	5.52	0.82312	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.48286	D	0.000184	D	0.97692	0.9243	M	0.82630	2.6	0.80722	D	1	D;D;D	0.89917	1.0;0.989;0.999	D;P;D	0.91635	0.999;0.848;0.996	D	0.98383	1.0559	10	0.66056	D	0.02	-12.6719	15.3051	0.73987	0.0:0.0:0.0:1.0	.	550;550;550	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	H	550;550;538;550;550	ENSP00000350310:Y550H;ENSP00000356187:Y550H;ENSP00000356188:Y538H;ENSP00000375816:Y550H;ENSP00000340930:Y550H	ENSP00000340930:Y550H	Y	+	1	0	ATP2B4	201945142	1.000000	0.71417	0.940000	0.37924	0.104000	0.19210	8.008000	0.88588	2.094000	0.63399	0.460000	0.39030	TAT	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087462.1		+	ENST00000357681.5	Missense_Mutation	SNP	1 : 203678519 - 203678519 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	440	11
LPAR1	1902	broad.mit.edu	37	9	113704229	113704229	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113704229C>T	ENST00000374431.3	-	4	648	c.265G>A	c.(265-267)Gct>Act	p.A89T	LPAR1_ENST00000538760.1_Missense_Mutation_p.A90T|LPAR1_ENST00000541779.1_Missense_Mutation_p.A90T|LPAR1_ENST00000358883.4_Missense_Mutation_p.A89T|LPAR1_ENST00000374430.2_Missense_Mutation_p.A89T	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	89					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GCCAGATTAGCCATTAGGTAA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(115;661 2323 9836 34256)							NA				0													99	107	104			NA	NA	9		NA											NA				113704229		2203	4300	6503	SO:0001583	missense			U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121	1902	1902		GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid	3166	protein-coding gene	gene with protein product		602282	endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2	EDG2	NA	8922387, 9070858	Standard	NM_057159	NM_001401	NA	Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.265G>A	9.37:g.113704229C>T	ENSP00000363553:p.Ala89Thr	NA	O00656|O00722|P78351	37	CCDS6777.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953693	0.92660	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760;ENST00000441240	T;T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62;-0.62	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.049120	0.85682	D	0.000000	T	0.79058	0.4382	L	0.39514	1.22	0.80722	D	1	D;D;D	0.67145	0.974;0.996;0.974	D;D;D	0.68621	0.91;0.959;0.91	T	0.81017	-0.1123	10	0.87932	D	0	.	18.0827	0.89445	0.0:1.0:0.0:0.0	.	90;90;89	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	T	89;90;89;89;71;90;89	ENSP00000363553:A89T;ENSP00000445697:A90T;ENSP00000363552:A89T;ENSP00000351755:A89T;ENSP00000440201:A90T;ENSP00000401810:A89T	ENSP00000351755:A89T	A	-	1	0	LPAR1	112744050	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.783000	0.85696	2.533000	0.85409	0.655000	0.94253	GCT	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053631.1		-	ENST00000374431.3	Missense_Mutation	SNP	9 : 113704229 - 113704229 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	707	116
NFIL3	4783	broad.mit.edu	37	9	94172259	94172259	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:94172259G>A	ENST00000297689.3	-	2	1152	c.758C>T	c.(757-759)tCt>tTt	p.S253F		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	253					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TGAGTACCCAGAGAAAGAATT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(152;732 1832 10053 26981 51762)							NA				0													124	128	126			NA	NA	9		NA											NA				94172259		2203	4300	6503	SO:0001583	missense			X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030	4783	4783		basic leucine zipper proteins	7787	protein-coding gene	gene with protein product		605327		IL3BP1	NA	7565758, 1620116	Standard	NM_005384	NM_005384	NA	Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.758C>T	9.37:g.94172259G>A	ENSP00000297689:p.Ser253Phe	NA	B2R9Y8|Q14211|Q6FGQ8|Q96HS0	37	CCDS6690.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.381410	0.24944	.	.	ENSG00000165030	ENST00000375724;ENST00000297689	.	.	.	4.65	4.65	0.58169	Vertebrate interleukin-3 regulated transcription factor (1);	0.644741	0.14767	N	0.299652	T	0.37320	0.0999	L	0.47716	1.5	0.09310	N	1	P	0.42203	0.773	P	0.44518	0.452	T	0.13098	-1.0522	9	0.10636	T	0.68	-9.2061	9.8799	0.41227	0.0:0.139:0.6984:0.1626	.	253	Q16649	NFIL3_HUMAN	F	253	.	ENSP00000297689:S253F	S	-	2	0	NFIL3	93212080	0.794000	0.28838	0.005000	0.12908	0.093000	0.18481	4.517000	0.60503	2.429000	0.82318	0.561000	0.74099	TCT	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053038.2		-	ENST00000297689.3	Missense_Mutation	SNP	9 : 94172259 - 94172259 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	650	121
MOGAT3	346606	broad.mit.edu	37	7	100842058	100842058	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100842058G>A	ENST00000223114.4	-	4	508	c.342C>T	c.(340-342)caC>caT	p.H114H	MOGAT3_ENST00000379423.3_Silent_p.H114H|MOGAT3_ENST00000440203.2_Silent_p.H114H	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	114					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					TCCCATGAGGGTGGGCGCCCA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	85	83			NA	NA	7		NA											NA				100842058		2203	4300	6503	SO:0001819	synonymous_variant			AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	346606	346606	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184			NA	12618427, 14970677	Standard	NM_178176	XM_005250309	NA	Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.342C>T	7.37:g.100842058G>A		NA	Q496A6|Q496A7|Q496A8|Q9UDW7	37	CCDS5714.1																																																																																			MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059649.3		-	ENST00000223114.4	Silent	SNP	7 : 100842058 - 100842058 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	624	114
ERI1	90459	broad.mit.edu	37	8	8875870	8875870	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:8875870T>C	ENST00000523898.1	+	6	1325	c.646T>C	c.(646-648)Ttg>Ctg	p.L216L	ERI1_ENST00000519292.1_Silent_p.L216L|ERI1_ENST00000520332.1_3'UTR|ERI1_ENST00000250263.7_Silent_p.L216L			Q8IV48	ERI1_HUMAN	exoribonuclease 1	216	Exonuclease.				gene silencing by RNA|rRNA 3'-end processing	cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus	3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|ribosome binding|rRNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11					Adenosine monophosphate(DB00131)	CTGGATGAAATTGAAGGAATT	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	56	55			NA	NA	8		NA											NA				8875870		2203	4299	6502	SO:0001819	synonymous_variant			BC035279	CCDS5972.1	8p23.1	2008-12-16	2008-12-16	2008-12-16	ENSG00000104626	ENSG00000104626	90459	90459		Enhanced RNAi three prime mRNA exonucleases	23994	protein-coding gene	gene with protein product	exoribonuclease 1, enhanced RNAi three prime mRNA exonuclease homolog 1 (C.elegans)	608739	three prime histone mRNA exonuclease 1	THEX1	NA	14536070	Standard	NM_153332	NM_153332	NA	Approved	3'HEXO	uc003wsk.2	Q8IV48	OTTHUMG00000129328	ENST00000523898.1:c.646T>C	8.37:g.8875870T>C		NA	A8K4U7|Q9NSX3	37	CCDS5972.1																																																																																			ERI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251471.2		+	ENST00000523898.1	Silent	SNP	8 : 8875870 - 8875870 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	249	56
PTPRG	5793	broad.mit.edu	37	3	62153813	62153813	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:62153813C>T	ENST00000474889.1	+	8	1386	c.1009C>T	c.(1009-1011)Cca>Tca	p.P337S	PTPRG_ENST00000295874.10_Missense_Mutation_p.P337S	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	337					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CTTAGAAAACCCACTGGGGAC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	64	63			NA	NA	3		NA											NA				62153813		2203	4300	6503	SO:0001583	missense			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724	5793	5793		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing	9671	protein-coding gene	gene with protein product		176886		PTPG	NA	1711217	Standard	NM_002841	NM_002841	NA	Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.1009C>T	3.37:g.62153813C>T	ENSP00000418112:p.Pro337Ser	NA	B2RU12|Q15623|Q59EE0|Q68DU5	37	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770178	0.90108	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.51071	0.73;0.72	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.68274	0.2983	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.963	T	0.69967	-0.5001	10	0.72032	D	0.01	.	19.4228	0.94729	0.0:1.0:0.0:0.0	.	337;337	P23470-2;P23470	.;PTPRG_HUMAN	S	337	ENSP00000418112:P337S;ENSP00000295874:P337S	ENSP00000295874:P337S	P	+	1	0	PTPRG	62128853	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.409000	0.80053	2.663000	0.90544	0.655000	0.94253	CCA	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351674.1		+	ENST00000474889.1	Missense_Mutation	SNP	3 : 62153813 - 62153813 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	296	56
SLC16A5	9121	broad.mit.edu	37	17	73096797	73096797	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73096797G>A	ENST00000450736.2	+	4	1454	c.1039G>A	c.(1039-1041)Gcc>Acc	p.A347T	SLC16A5_ENST00000329783.4_Missense_Mutation_p.A347T|SLC16A5_ENST00000580123.1_Missense_Mutation_p.A347T|SLC16A5_ENST00000538213.2_Missense_Mutation_p.A387T			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	347					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	TGGCATCGGCGCCCTCATCTT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													240	203	216			NA	NA	17		NA											NA				73096797		2203	4300	6503	SO:0001583	missense			U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190	9121	9121		Solute carriers	10926	protein-coding gene	gene with protein product		603879	solute carrier family 16 (monocarboxylic acid transporters), member 5, solute carrier family 16, member 5 (monocarboxylic acid transporter 6)		NA	9425115	Standard	NM_004695	NM_004695	NA	Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.1039G>A	17.37:g.73096797G>A	ENSP00000390564:p.Ala347Thr	NA		37	CCDS11713.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.579837	0.46006	.	.	ENSG00000170190	ENST00000329783;ENST00000450736;ENST00000538213	T;T;T	0.51325	0.71;0.71;0.71	4.72	2.63	0.31362	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.289746	0.38326	N	0.001732	T	0.39172	0.1068	M	0.72894	2.215	0.26880	N	0.967566	B;B	0.30439	0.279;0.279	B;B	0.26693	0.066;0.072	T	0.23691	-1.0181	10	0.24483	T	0.36	.	5.3555	0.16059	0.1431:0.0:0.6756:0.1813	.	387;347	B4E288;O15375	.;MOT6_HUMAN	T	347;347;387	ENSP00000330141:A347T;ENSP00000390564:A347T;ENSP00000440212:A387T	ENSP00000330141:A347T	A	+	1	0	SLC16A5	70608392	0.999000	0.42202	0.355000	0.25773	0.842000	0.47809	3.272000	0.51616	0.426000	0.26116	0.561000	0.74099	GCC	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445547.1		+	ENST00000450736.2	Missense_Mutation	SNP	17 : 73096797 - 73096797 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	429	82
FAM183B	340286	broad.mit.edu	37	7	38725552	38725552	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:38725552C>A	ENST00000409072.3	-	2	988	c.54G>T	c.(52-54)caG>caT	p.Q18H						family with sequence similarity 183, member B	NA										endometrium(1)|lung(7)	8						CCCGCAAGATCTGGTTCTGAT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	101	100			NA	NA	7		NA											NA				38725552		1980	4153	6133	SO:0001583	missense			AK124132, BC045803		7p14.1	2008-08-11			ENSG00000164556	ENSG00000164556	340286	340286			34511	protein-coding gene	gene with protein product					NA		Standard	NM_001105282	NR_028347	NA	Approved	LOC340286	uc011kbd.2	Q6ZVS7	OTTHUMG00000153653	ENST00000409072.3:c.54G>T	7.37:g.38725552C>A	ENSP00000386657:p.Gln18His	NA		37		.	.	.	.	.	.	.	.	.	.	C	12.42	1.933309	0.34096	.	.	ENSG00000164556	ENST00000409072	.	.	.	0.9	0.9	0.19278	.	0.499981	0.18733	N	0.132677	T	0.33498	0.0865	.	.	.	0.24301	N	0.995122	.	.	.	.	.	.	T	0.17289	-1.0374	6	0.44086	T	0.13	.	4.9573	0.14048	0.0:1.0:0.0:0.0	.	.	.	.	H	18	.	ENSP00000386657:Q18H	Q	-	3	2	FAM183B	38692077	0.995000	0.38212	0.896000	0.35187	0.900000	0.52787	1.168000	0.31859	0.308000	0.22923	0.313000	0.20887	CAG	FAM183B-001	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000331972.1		-	ENST00000409072.3	Missense_Mutation	SNP	7 : 38725552 - 38725552 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	397	78
SYNE1	23345	broad.mit.edu	37	6	152658135	152658135	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152658135G>A	ENST00000367255.5	-	76	12970	c.12369C>T	c.(12367-12369)gtC>gtT	p.V4123V	SYNE1_ENST00000448038.1_Silent_p.V4052V|SYNE1_ENST00000423061.1_Silent_p.V4052V|SYNE1_ENST00000265368.4_Silent_p.V4123V|SYNE1_ENST00000341594.5_Silent_p.V3988V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4123					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTGGGCCTGGACAAGCTTTT	0.423		NA								HNSCC(10;0.0054)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	59	60			NA	NA	6		NA											NA				152658135		2203	4300	6503	SO:0001819	synonymous_variant			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018	23345	23345			17089	protein-coding gene	gene with protein product	myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1	608441	chromosome 6 open reading frame 98	C6orf98	NA	9872452, 10878022	Standard	NM_182961	NM_182961	NA	Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12369C>T	6.37:g.152658135G>A		NA	O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	37	CCDS5236.2																																																																																			SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334755.2		-	ENST00000367255.5	Silent	SNP	6 : 152658135 - 152658135 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	191	35
HSD17B4	3295	broad.mit.edu	37	5	118867031	118867031	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118867031T>C	ENST00000515320.1	+	21	1950	c.1871T>C	c.(1870-1872)gTg>gCg	p.V624A	HSD17B4_ENST00000504811.1_Missense_Mutation_p.V667A|HSD17B4_ENST00000513628.1_Missense_Mutation_p.V505A|HSD17B4_ENST00000509514.1_Missense_Mutation_p.V380A|HSD17B4_ENST00000256216.6_Missense_Mutation_p.V642A|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000510025.1_Missense_Mutation_p.V618A|HSD17B4_ENST00000414835.2_Missense_Mutation_p.V502A	NM_001199292.1	NP_001186221.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	642	SCP2.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	GGGCCTGAGGTGGTGAAGAAA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(35;490 801 34689 41394 43344)							NA				0													100	99	99			NA	NA	5		NA											NA				118867031		2202	4300	6502	SO:0001583	missense				CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	3295	3295	4.2.1.107, 1.1.1.35	Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3	5213	protein-coding gene	gene with protein product	17beta-estradiol dehydrogenase type IV, peroxisomal multifunctional protein 2, 17-beta-HSD IV, 17-beta-hydroxysteroid dehydrogenase 4, D-bifunctional protein, peroxisomal, D-3-hydroxyacyl-CoA dehydratase, 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase, beta-keto-reductase, beta-hydroxyacyl dehydrogenase, short chain dehydrogenase/reductase family 8C, member 1	601860			NA	8938456, 19027726	Standard	NM_000414	NM_000414	NA	Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000515320.1:c.1871T>C	5.37:g.118867031T>C	ENSP00000424613:p.Val624Ala	NA		37	CCDS56378.1	.	.	.	.	.	.	.	.	.	.	T	14.60	2.584128	0.46110	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	T;T;T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2;2.2;2.2	5.49	4.3	0.51218	SCP2 sterol-binding domain (2);	0.123302	0.56097	D	0.000036	T	0.11495	0.0280	N	0.13352	0.335	0.39528	D	0.96862	P;B;B;B;B	0.42692	0.787;0.006;0.01;0.083;0.002	B;B;B;B;B	0.36567	0.228;0.02;0.02;0.06;0.026	T	0.12682	-1.0538	10	0.36615	T	0.2	-2.1711	10.8144	0.46567	0.142:0.0:0.0:0.858	.	667;624;618;380;642	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	A	642;624;618;667;502;505;380	ENSP00000256216:V642A;ENSP00000424613:V624A;ENSP00000424940:V618A;ENSP00000420914:V667A;ENSP00000411960:V502A;ENSP00000425993:V505A;ENSP00000426272:V380A	ENSP00000256216:V642A	V	+	2	0	HSD17B4	118894930	1.000000	0.71417	0.632000	0.29296	0.966000	0.64601	5.241000	0.65384	0.877000	0.35895	0.528000	0.53228	GTG	HSD17B4-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000371138.1		+	ENST00000515320.1	Missense_Mutation	SNP	5 : 118867031 - 118867031 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	45
ERBB4	2066	broad.mit.edu	37	2	212285274	212285274	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212285274A>G	ENST00000342788.4	-	25	3337	c.3027T>C	c.(3025-3027)gaT>gaC	p.D1009D	ERBB4_ENST00000402597.1_Silent_p.D999D|ERBB4_ENST00000436443.1_Silent_p.D1009D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1009					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		AATCCTCTTCATCCAAGAGAT	0.428		NA								TSP Lung(8;0.080)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	88	91			NA	NA	2		NA											NA				212285274		2203	4300	6503	SO:0001819	synonymous_variant			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568	2066	2066			3432	protein-coding gene	gene with protein product		600543	v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4		NA	7700649, 17018285	Standard	NM_001042599	NM_001042599	NA	Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3027T>C	2.37:g.212285274A>G		NA	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	37	CCDS2394.1																																																																																			ERBB4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256597.1		-	ENST00000342788.4	Silent	SNP	2 : 212285274 - 212285274 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	62
PHKB	5257	broad.mit.edu	37	16	47622859	47622859	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47622859T>C	ENST00000299167.8	+	10	939	c.914T>C	c.(913-915)tTt>tCt	p.F305S	PHKB_ENST00000455779.1_Missense_Mutation_p.F298S|PHKB_ENST00000323584.5_Missense_Mutation_p.F305S|PHKB_ENST00000566044.1_Missense_Mutation_p.F298S|PHKB_ENST00000567402.1_3'UTR			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	305					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TATCCTGCATTTGCCCTGGAT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	92	94			NA	NA	16		NA											NA				47622859		2201	4300	6501	SO:0001583	missense				CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	5257	5257	2.7.11.19		8927	protein-coding gene	gene with protein product		172490			NA		Standard		NM_000293	NA	Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000299167.8:c.914T>C	16.37:g.47622859T>C	ENSP00000299167:p.Phe305Ser	NA	Q8N4T5	37		.	.	.	.	.	.	.	.	.	.	T	30	5.057005	0.93846	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.94232	-3.38;-3.38	6.07	6.07	0.98685	Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.97445	0.9164	M	0.92459	3.31	0.80722	D	1	D;D	0.71674	0.998;0.988	D;P	0.71414	0.973;0.761	D	0.98270	1.0503	10	0.87932	D	0	-9.115	16.635	0.85050	0.0:0.0:0.0:1.0	.	305;298	Q93100;Q93100-4	KPBB_HUMAN;.	S	298;298;305	ENSP00000414345:F298S;ENSP00000313504:F305S	ENSP00000299167:F298S	F	+	2	0	PHKB	46180360	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.922000	0.87538	2.330000	0.79161	0.477000	0.44152	TTT	PHKB-001	KNOWN	alternative_5_UTR|basic	protein_coding	NA	protein_coding	OTTHUMT00000256767.3		+	ENST00000299167.8	Missense_Mutation	SNP	16 : 47622859 - 47622859 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	24
GPR110	266977	broad.mit.edu	37	6	46989795	46989795	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46989795C>A	ENST00000371253.2	-	6	667		c.e6-1		GPR110_ENST00000449332.2_Splice_Site|GPR110_ENST00000371243.2_Splice_Site	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	NA					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CCCCAAATCTCTGTAGGAAAT	0.274		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	53	51			NA	NA	6		NA											NA				46989795		2199	4287	6486	SO:0001630	splice_region_variant			AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292	266977	266977		-, GPCR / Class B : Orphans	18990	protein-coding gene	gene with protein product					NA	12435584, 14623098	Standard	NM_153840	XM_005249006	NA	Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.452-1G>T	6.37:g.46989795C>A		NA	Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	37	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	C	7.976	0.750104	0.15778	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000371243	.	.	.	5.62	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.743	0.46164	0.0:0.9121:0.0:0.0879	.	.	.	.	.	-1	.	.	.	-	.	.	GPR110	47097754	1.000000	0.71417	0.886000	0.34754	0.094000	0.18550	3.505000	0.53356	1.527000	0.49086	0.655000	0.94253	.	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040810.2	Intron	-	ENST00000371253.2	Splice_Site	SNP	6 : 46989795 - 46989795 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	318	48
VWA7	80737	broad.mit.edu	37	6	31734467	31734467	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31734467A>C	ENST00000375688.4	-	14	2157	c.1957T>G	c.(1957-1959)Ttc>Gtc	p.F653V	VWA7_ENST00000447450.1_Missense_Mutation_p.F646C|VWA7_ENST00000375686.3_Missense_Mutation_p.F653V|VWA7_ENST00000467576.1_5'UTR			Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	653						extracellular region					NA						ACGTGGGAGAAATGCGGCTGA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	76	72			NA	NA	6		NA											NA				31734467		1508	2708	4216	SO:0001583	missense				CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396	80737	80737			13939	protein-coding gene	gene with protein product		609693	chromosome 6 open reading frame 27	C6orf27	NA		Standard	NM_025258	NM_025258	NA	Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.1957T>G	6.37:g.31734467A>C	ENSP00000364840:p.Phe653Val	NA	A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	37	CCDS4721.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.52|13.52	2.261429|2.261429	0.39995|0.39995	.|.	.|.	ENSG00000204396|ENSG00000204396	ENST00000447450|ENST00000375688;ENST00000375686	T|T;T	0.34072|0.15256	1.38|2.65;2.44	4.95|4.95	3.79|3.79	0.43588|0.43588	.|.	0.220091|0.220091	0.38548|0.38548	N|N	0.001645|0.001645	T|T	0.03783|0.03783	0.0107|0.0107	L|L	0.29908|0.29908	0.895|0.895	0.23351|0.23351	N|N	0.997856|0.997856	.|P	.|0.48294	.|0.908	.|B	.|0.41412	.|0.356	T|T	0.27905|0.27905	-1.0060|-1.0060	8|10	0.56958|0.16896	D|T	0.05|0.51	-25.5297|-25.5297	5.8942|5.8942	0.18929|0.18929	0.8813:0.0:0.1187:0.0|0.8813:0.0:0.1187:0.0	.|.	.|653	.|Q9Y334	.|G7C_HUMAN	C|V	646|653	ENSP00000390554:F646C|ENSP00000364840:F653V;ENSP00000364838:F653V	ENSP00000390554:F646C|ENSP00000364838:F653V	F|F	-|-	2|1	0|0	C6orf27|C6orf27	31842446|31842446	0.975000|0.975000	0.34042|0.34042	0.967000|0.967000	0.41034|0.41034	0.455000|0.455000	0.32408|0.32408	2.531000|2.531000	0.45650|0.45650	2.073000|2.073000	0.62155|0.62155	0.460000|0.460000	0.39030|0.39030	TTT|TTC	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076233.2		-	ENST00000375688.4	Missense_Mutation	SNP	6 : 31734467 - 31734467 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	528	85
ZNF142	7701	broad.mit.edu	37	2	219513829	219513829	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219513829G>T	ENST00000449707.1	-	6	1223	c.802C>A	c.(802-804)Cta>Ata	p.L268I	ZNF142_ENST00000411696.2_Missense_Mutation_p.L268I	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGCTCCTTTAGGGCCTGGCTG	0.582		NA									OREG0015202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(170;867 1942 8995 15834 18053)							NA				0													34	36	35			NA	NA	2		NA											NA				219513829		2059	4205	6264	SO:0001583	missense			U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568	7701	7701		Zinc fingers, C2H2-type	12927	protein-coding gene	gene with protein product		604083	zinc finger protein 142 (clone pHZ-49)		NA		Standard	NM_005081	NM_001105537	NA	Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.802C>A	2.37:g.219513829G>T	ENSP00000408643:p.Leu268Ile	2259	Q92510	37	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160812	0.78226	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.21031	2.03;2.03	5.06	5.06	0.68205	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.52386	0.1731	M	0.83312	2.635	0.42258	D	0.992001	D;D	0.76494	0.999;0.999	D;D	0.87578	0.996;0.998	T	0.58120	-0.7692	10	0.87932	D	0	-26.1267	18.9909	0.92791	0.0:0.0:1.0:0.0	.	268;105	P52746;A8MWU9	ZN142_HUMAN;.	I	268	ENSP00000408643:L268I;ENSP00000398798:L268I	ENSP00000398798:L268I	L	-	1	2	ZNF142	219222073	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.797000	0.62503	2.797000	0.96272	0.563000	0.77884	CTA	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336833.1		-	ENST00000449707.1	Missense_Mutation	SNP	2 : 219513829 - 219513829 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	204	54
DNAH2	146754	broad.mit.edu	37	17	7667264	7667264	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7667264C>T	ENST00000572933.1	+	19	4554	c.3094C>T	c.(3094-3096)Cag>Tag	p.Q1032*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.Q1032*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1032	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CAATGAATGGCAGAACAAGTT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	86	90			NA	NA	17		NA											NA				7667264		2203	4300	6503	SO:0001587	stop_gained			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914	146754	146754		Axonemal dyneins	2948	protein-coding gene	gene with protein product		603333	dynein, axonemal, heavy polypeptide 2, dynein heavy chain domain 3	DNHD3	NA	9256245	Standard	NM_020877	XM_005256470	NA	Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.3094C>T	17.37:g.7667264C>T	ENSP00000458355:p.Gln1032*	NA	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	42	9.586910	0.99213	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	.	.	.	4.9	4.9	0.64082	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.8308	0.85944	0.0:1.0:0.0:0.0	.	.	.	.	X	1032	.	ENSP00000353818:Q1032X	Q	+	1	0	DNAH2	7607989	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.871000	0.75531	2.251000	0.74343	0.555000	0.69702	CAG	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000440241.1		+	ENST00000572933.1	Nonsense_Mutation	SNP	17 : 7667264 - 7667264 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	365	73
SATB2	23314	broad.mit.edu	37	2	200137187	200137187	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200137187G>A	ENST00000443023.1	-	10	3237	c.1772C>T	c.(1771-1773)gCt>gTt	p.A591V	SATB2_ENST00000417098.1_Missense_Mutation_p.A650V|SATB2_ENST00000457245.1_Missense_Mutation_p.A650V|SATB2_ENST00000428695.1_Missense_Mutation_p.A532V|SATB2_ENST00000260926.5_Missense_Mutation_p.A650V			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	650						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ATCCAGCTGAGCCGAAAGAGT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(30;262 767 11040 24421 36230)							NA				0													137	122	127			NA	NA	2		NA											NA				200137187		2203	4300	6503	SO:0001583	missense			AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042	23314	23314		Homeoboxes / CUT class	21637	protein-coding gene	gene with protein product		608148	SATB family member 2		NA		Standard	NM_015265	NM_015265	NA	Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000443023.1:c.1772C>T	2.37:g.200137187G>A	ENSP00000388764:p.Ala591Val	NA	A8K5Z8|Q4V763	37		.	.	.	.	.	.	.	.	.	.	G	26.0	4.698599	0.88830	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	D;D;D;D;D	0.96396	-4.0;-4.0;-4.0;-4.0;-4.0	5.5	5.5	0.81552	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96932	0.8998	L	0.32530	0.975	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.79108	0.983;0.992	D	0.97639	1.0147	10	0.72032	D	0.01	-14.0989	19.762	0.96323	0.0:0.0:1.0:0.0	.	532;650	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	V	650;591;650;532;650	ENSP00000401112:A650V;ENSP00000388764:A591V;ENSP00000260926:A650V;ENSP00000388581:A532V;ENSP00000405420:A650V	ENSP00000260926:A650V	A	-	2	0	SATB2	199845432	1.000000	0.71417	0.341000	0.25589	0.936000	0.57629	9.813000	0.99286	2.741000	0.93983	0.650000	0.86243	GCT	SATB2-012	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000340208.1		-	ENST00000443023.1	Missense_Mutation	SNP	2 : 200137187 - 200137187 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	610	95
THAP7	80764	broad.mit.edu	37	22	21354375	21354375	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21354375G>A	ENST00000215742.4	-	4	898	c.724C>T	c.(724-726)Cgg>Tgg	p.R242W	THAP7_ENST00000399133.2_Missense_Mutation_p.R242W	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	242					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TCGGCTCGCCGCTTCCAGAGT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG,TRP/ARG	2,4390		0,2,2194	15	16	16		724,724	-3.5	1	22		16	0,8546		0,0,4273	no	missense,missense	THAP7	NM_001008695.1,NM_030573.2	101,101	0,2,6467	AA,AG,GG	NA	0.0,0.0455,0.0155	probably-damaging,probably-damaging	242/310,242/310	21354375	2,12936	2196	4273	6469	SO:0001583	missense			BC004346	CCDS13787.1	22q11.2	2013-01-25			ENSG00000184436	ENSG00000184436	80764	80764		THAP (C2CH-type zinc finger) domain containing	23190	protein-coding gene	gene with protein product		609518			NA	12575992	Standard	NM_030573	NM_030573	NA	Approved	MGC10963	uc002ztr.1	Q9BT49	OTTHUMG00000150879	ENST00000215742.4:c.724C>T	22.37:g.21354375G>A	ENSP00000215742:p.Arg242Trp	NA	B2RD97|D3DX40	37	CCDS13787.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679638	0.68042	4.55E-4	0.0	ENSG00000184436	ENST00000215742;ENST00000399133	D;D	0.97665	-4.48;-4.48	4.25	-3.45	0.04781	.	0.370399	0.21680	N	0.070723	D	0.94551	0.8245	N	0.14661	0.345	0.42120	D	0.991422	D	0.89917	1.0	D	0.65874	0.939	D	0.90812	0.4702	10	0.87932	D	0	-18.4205	8.6921	0.34273	0.0888:0.0:0.2028:0.7084	.	242	Q9BT49	THAP7_HUMAN	W	242	ENSP00000215742:R242W;ENSP00000382084:R242W	ENSP00000215742:R242W	R	-	1	2	THAP7	19684375	0.948000	0.32251	0.993000	0.49108	0.890000	0.51754	0.147000	0.16202	-0.229000	0.09854	-0.181000	0.13052	CGG	THAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320405.1		-	ENST00000215742.4	Missense_Mutation	SNP	22 : 21354375 - 21354375 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	180	39
YWHAB	7529	broad.mit.edu	37	20	43530459	43530459	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43530459C>T	ENST00000372839.3	+	3	559	c.285C>T	c.(283-285)atC>atT	p.I95I	YWHAB_ENST00000353703.4_Silent_p.I95I|YWHAB_ENST00000479421.1_3'UTR	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta	95					activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				TGCAGGACATCTGCAATGATG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	98	99			NA	NA	20		NA											NA				43530459		2203	4300	6503	SO:0001819	synonymous_variant			X57346	CCDS13339.1	20q13.1	2013-12-03	2013-12-03		ENSG00000166913	ENSG00000166913	7529	7529			12849	protein-coding gene	gene with protein product	14-3-3 beta, 14-3-3 alpha	601289	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, alpha polypeptide, tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide	YWHAA	NA	8617504, 7890696	Standard	NM_003404	NM_003404	NA	Approved		uc002xmu.3	P31946	OTTHUMG00000032549	ENST00000372839.3:c.285C>T	20.37:g.43530459C>T		NA	A8K9K2|E1P616	37	CCDS13339.1																																																																																			YWHAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079386.3		+	ENST00000372839.3	Silent	SNP	20 : 43530459 - 43530459 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	507	89
SMARCC2	6601	broad.mit.edu	37	12	56565170	56565170	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56565170C>A	ENST00000394023.3	-	22	2337	c.2232G>T	c.(2230-2232)gaG>gaT	p.E744D	SMARCC2_ENST00000347471.4_Missense_Mutation_p.E744D|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.E713D|SMARCC2_ENST00000550164.1_Missense_Mutation_p.E744D	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	713					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GAACATGGGCCTCCACCAAGG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	125	129			NA	NA	12		NA											NA				56565170		2203	4300	6503	SO:0001583	missense			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613	6601	6601			11105	protein-coding gene	gene with protein product		601734			NA	8804307, 9693044	Standard		NM_001130420	NA	Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000394023.3:c.2232G>T	12.37:g.56565170C>A	ENSP00000377591:p.Glu744Asp	NA	Q92923|Q96E12|Q96GY4	37	CCDS55835.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855436	0.51376	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T;T	0.48522	1.01;0.81;0.84;0.83	5.3	3.46	0.39613	.	0.000000	0.85682	D	0.000000	T	0.47728	0.1461	L	0.31294	0.92	0.45129	D	0.99814	D;D;D;D;D	0.61697	0.984;0.99;0.984;0.984;0.99	D;D;D;D;D	0.73380	0.956;0.98;0.956;0.956;0.98	T	0.40831	-0.9542	10	0.12766	T	0.61	-20.1129	6.9306	0.24439	0.0:0.6437:0.0:0.3563	.	633;744;748;713;744	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	D	744;744;744;713	ENSP00000377591:E744D;ENSP00000449396:E744D;ENSP00000302919:E744D;ENSP00000267064:E713D	ENSP00000267064:E713D	E	-	3	2	SMARCC2	54851437	0.981000	0.34729	1.000000	0.80357	0.998000	0.95712	0.250000	0.18235	0.729000	0.32403	0.655000	0.94253	GAG	SMARCC2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408459.1		-	ENST00000394023.3	Missense_Mutation	SNP	12 : 56565170 - 56565170 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	438	87
SPAG11B	10407	broad.mit.edu	37	8	7320352	7320352	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:7320352A>G	ENST00000317900.5	-	2	261	c.91T>C	c.(91-93)Tca>Cca	p.S31P	SPAG11B_ENST00000359758.5_Missense_Mutation_p.S31P|SPAG11B_ENST00000398462.2_Missense_Mutation_p.S31P|SPAG11B_ENST00000297498.2_Missense_Mutation_p.S31P|SPAG11B_ENST00000361111.2_Missense_Mutation_p.S31P	NM_058203.2	NP_478110.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B	31					spermatogenesis	extracellular region				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		TCAGTGGCTGAGTGGTTCACA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	88	85			NA	NA	8		NA											NA				7320352		2000	3962	5962	SO:0001583	missense			AF168616	CCDS5964.1, CCDS5965.1, CCDS5966.1, CCDS5967.1, CCDS47774.1	8p23.1	2014-02-21	2007-03-15	2007-03-15	ENSG00000164871	ENSG00000164871	10407	10407			14534	protein-coding gene	gene with protein product	epididymal protein 2B	606560			NA	8167223, 1693137	Standard	NM_058202, NM_058200, NM_058201, NM_016512, NM_058203, NM_058206, NM_058207	NM_058200	NA	Approved	HE2, EP2, EP2C, EP2D, EDDM2B	uc003wrl.3	Q08648	OTTHUMG00000129219	ENST00000317900.5:c.91T>C	8.37:g.7320352A>G	ENSP00000322591:p.Ser31Pro	NA	Q546A0|Q6ZYB2|Q9H4P8|Q9H4Q0|Q9H4Q1|Q9H4Q2|Q9NRT3|Q9NRV4|Q9NRV5|Q9NRV6|Q9NRV7|Q9NRV8	37	CCDS5967.1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.805612	0.31961	.	.	ENSG00000164871	ENST00000528943;ENST00000359758;ENST00000361111;ENST00000297498;ENST00000398462;ENST00000317900	T;T;T	0.48201	1.41;0.82;1.41	2.59	-3.59	0.04583	.	.	.	.	.	T	0.48572	0.1507	L	0.36672	1.1	0.09310	N	1	B;B;D;D;D	0.76494	0.001;0.002;0.985;0.981;0.999	B;B;D;D;D	0.83275	0.001;0.003;0.976;0.959;0.996	T	0.40572	-0.9556	9	0.35671	T	0.21	.	4.2386	0.10637	0.2287:0.4068:0.3645:0.0	.	31;31;31;31;31	Q08648-3;A8MZA0;Q08648;Q6PDA7-3;E9PAK7	.;.;SG11B_HUMAN;.;.	P	14;31;31;31;31;31	ENSP00000437154:S14P;ENSP00000354411:S31P;ENSP00000297498:S31P	ENSP00000297498:S31P	S	-	1	0	SPAG11B	7307762	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.094000	0.15107	-0.747000	0.04759	0.378000	0.23410	TCA	SPAG11B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251391.1		-	ENST00000317900.5	Missense_Mutation	SNP	8 : 7320352 - 7320352 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	454	47
CSGALNACT2	55454	broad.mit.edu	37	10	43650908	43650908	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43650908C>T	ENST00000374466.3	+	2	646	c.311C>T	c.(310-312)gCt>gTt	p.A104V	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.A104V	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	104					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AATGTAGGGGCTAATGGCATA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	62	66			NA	NA	10		NA											NA				43650908		2203	4300	6503	SO:0001583	missense			AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826	55454	55454		Beta 4-glycosyltransferases	24292	protein-coding gene	gene with protein product	chondroitin beta1,4 N-acetylgalactosaminyltransferase 2				NA	12446672	Standard	NM_018590	NM_018590	NA	Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.311C>T	10.37:g.43650908C>T	ENSP00000363590:p.Ala104Val	NA	B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	37	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.236205	0.22626	.	.	ENSG00000169826	ENST00000374466;ENST00000374464	T;T	0.15256	2.44;2.44	5.56	2.68	0.31781	.	0.553571	0.21419	N	0.074849	T	0.06325	0.0163	N	0.03115	-0.41	0.28538	N	0.91226	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.33954	-0.9848	10	0.21014	T	0.42	0.0722	6.5965	0.22677	0.0:0.5503:0.2714:0.1783	.	104;104	Q8N6G5;Q8N6G5-2	CGAT2_HUMAN;.	V	104	ENSP00000363590:A104V;ENSP00000363588:A104V	ENSP00000363588:A104V	A	+	2	0	CSGALNACT2	42970914	0.286000	0.24305	0.957000	0.39632	0.985000	0.73830	0.642000	0.24735	0.387000	0.25024	0.650000	0.86243	GCT	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047693.1		+	ENST00000374466.3	Missense_Mutation	SNP	10 : 43650908 - 43650908 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	303	50
DAGLA	747	broad.mit.edu	37	11	61507115	61507115	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61507115A>C	ENST00000257215.5	+	17	1951	c.1835A>C	c.(1834-1836)cAc>cCc	p.H612P		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	612					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GTCCACAACCACCCTGCAGAG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	77	81			NA	NA	11		NA											NA				61507115		2202	4299	6501	SO:0001583	missense			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	747	747	3.1.1.-		1165	protein-coding gene	gene with protein product	neural stem cell-derived dendrite regulator	614015	chromosome 11 open reading frame 11	C11orf11	NA	9734811	Standard	NM_006133	NM_006133	NA	Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.1835A>C	11.37:g.61507115A>C	ENSP00000257215:p.His612Pro	NA	A7E233|Q6WQJ0	37	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	A	18.80	3.701586	0.68501	.	.	ENSG00000134780	ENST00000257215	T	0.25749	1.78	4.23	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.45458	0.1343	L	0.57536	1.79	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	T	0.35847	-0.9772	10	0.42905	T	0.14	-33.9652	13.6453	0.62277	1.0:0.0:0.0:0.0	.	612	Q9Y4D2	DGLA_HUMAN	P	612	ENSP00000257215:H612P	ENSP00000257215:H612P	H	+	2	0	DAGLA	61263691	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	9.266000	0.95659	1.688000	0.51068	0.379000	0.24179	CAC	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398516.1		+	ENST00000257215.5	Missense_Mutation	SNP	11 : 61507115 - 61507115 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	250	53
ZSCAN12	9753	broad.mit.edu	37	6	28365827	28365827	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28365827G>A	ENST00000361028.1	-	2	501	c.356C>T	c.(355-357)aCt>aTt	p.T119I	ZSCAN12_ENST00000396827.3_Missense_Mutation_p.T119I					zinc finger and SCAN domain containing 12	NA										breast(2)|endometrium(3)|urinary_tract(1)	6						CTCCAGCACAGTCACCACCTC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	117	125			NA	NA	6		NA											NA				28365827		692	1591	2283	SO:0001583	missense			AB007886		6p21	2013-01-08	2007-02-20	2007-02-20	ENSG00000158691	ENSG00000158691	9753	9753		-, Zinc fingers, C2H2-type	13172	protein-coding gene	gene with protein product		603978	zinc finger protein 305, zinc finger protein 96	ZNF305, ZNF96	NA	9244436	Standard	NM_014724	NM_001163391	NA	Approved	KIAA0426, ZNF29K1, ZFP96, dJ29K1.2	uc011dlh.2	O43309	OTTHUMG00000014522	ENST00000361028.1:c.356C>T	6.37:g.28365827G>A	ENSP00000354305:p.Thr119Ile	NA		37		.	.	.	.	.	.	.	.	.	.	G	12.68	2.009819	0.35415	.	.	ENSG00000158691	ENST00000361028;ENST00000396827	T;T	0.06218	3.33;3.33	3.34	1.44	0.22558	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.479877	0.15636	N	0.252140	T	0.02970	0.0088	M	0.79343	2.45	0.28367	N	0.920183	B;B	0.21606	0.058;0.058	B;B	0.20384	0.029;0.017	T	0.31364	-0.9946	10	0.72032	D	0.01	.	4.2605	0.10739	0.1251:0.0:0.6526:0.2222	.	119;119	A8K187;O43309	.;ZSC12_HUMAN	I	119	ENSP00000354305:T119I;ENSP00000380039:T119I	ENSP00000354305:T119I	T	-	2	0	ZSCAN12	28473806	0.007000	0.16637	0.984000	0.44739	0.970000	0.65996	0.515000	0.22801	0.203000	0.20529	0.655000	0.94253	ACT	ZSCAN12-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000040190.1		-	ENST00000361028.1	Missense_Mutation	SNP	6 : 28365827 - 28365827 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	270	39
KIAA2026	158358	broad.mit.edu	37	9	5920791	5920791	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5920791A>G	ENST00000399933.3	-	8	5204	c.5205T>C	c.(5203-5205)tgT>tgC	p.C1735C	KIAA2026_ENST00000381461.2_Silent_p.C1705C	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1735										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CTGATGTTAAACATTTAGGAG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	143	145			NA	NA	9		NA											NA				5920791		1923	4129	6052	SO:0001819	synonymous_variant			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354	158358	158358			23378	protein-coding gene	gene with protein product					NA		Standard	NM_001017969	NM_001017969	NA	Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.5205T>C	9.37:g.5920791A>G		NA	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	37																																																																																				KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000051652.2		-	ENST00000399933.3	Silent	SNP	9 : 5920791 - 5920791 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	475	116
SGK3	23678	broad.mit.edu	37	8	67710851	67710851	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67710851T>G	ENST00000396596.1	+	3	385	c.171T>G	c.(169-171)ctT>ctG	p.L57L	SGK3_ENST00000521198.2_Silent_p.L57L|C8orf44-SGK3_ENST00000519289.1_Silent_p.L57L|SGK3_ENST00000522398.1_Silent_p.L57L|SGK3_ENST00000520976.1_Silent_p.L57L|SGK3_ENST00000345714.4_Silent_p.L57L	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	57	PX.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTGATAAACTTTATAACACTG	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	154	149			NA	NA	8		NA											NA				67710851		2203	4299	6502	SO:0001819	synonymous_variant				CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205	23678	23678			10812	protein-coding gene	gene with protein product		607591	serum/glucocorticoid regulated kinase-like	SGK2, SGKL	NA	10585774, 10548550	Standard		NM_013257	NA	Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.171T>G	8.37:g.67710851T>G		NA	A8K5W3|Q9P1Q7|Q9UKG5	37	CCDS6195.1																																																																																			SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379232.3		+	ENST00000396596.1	Silent	SNP	8 : 67710851 - 67710851 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	736	33
TFDP1	7027	broad.mit.edu	37	13	114288234	114288234	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114288234C>T	ENST00000375370.5	+	7	716	c.504C>T	c.(502-504)cgC>cgT	p.R168R	TFDP1_ENST00000544902.1_Silent_p.R73R|TFDP1_ENST00000465174.1_3'UTR|TFDP1_ENST00000538138.1_Silent_p.R73R	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	168					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			TAAGACGGCGCGTCTACGATG	0.488		NA								TSP Lung(29;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	113	107	109		504	-8.6	0.9	13		109	1,8599		0,1,4299	no	coding-synonymous	TFDP1	NM_007111.4		0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077		168/411	114288234	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176	7027	7027			11749	protein-coding gene	gene with protein product		189902			NA	8413592, 9027491	Standard	NM_007111	NM_007111	NA	Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.504C>T	13.37:g.114288234C>T		NA	Q5JSB4|Q8IZL5	37	CCDS9538.1																																																																																			TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045918.3		+	ENST00000375370.5	Silent	SNP	13 : 114288234 - 114288234 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	542	74
SLC10A3	8273	broad.mit.edu	37	X	153716401	153716401	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153716401C>A	ENST00000393586.1	-	3	1141	c.1044G>T	c.(1042-1044)gtG>gtT	p.V348V	SLC10A3_ENST00000369649.4_Silent_p.V264V|SLC10A3_ENST00000263512.4_Silent_p.V293V|SLC10A3_ENST00000393587.4_Silent_p.V293V			P09131	P3_HUMAN	solute carrier family 10, member 3	293					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGTGGCAGCCACCGTAGAGA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	59	59			NA	NA	X		NA											NA				153716401		2202	4299	6501	SO:0001819	synonymous_variant			X12458	CCDS14755.1, CCDS48195.1	Xq28	2013-07-18	2013-07-18		ENSG00000126903	ENSG00000126903	8273	8273		Solute carriers	22979	protein-coding gene	gene with protein product		312090			NA	8733135	Standard	NM_019848	NM_019848	NA	Approved	P3, DXS253E	uc004flq.3	P09131	OTTHUMG00000013369	ENST00000393586.1:c.1044G>T	X.37:g.153716401C>A		NA	Q5HY79	37																																																																																				SLC10A3-004	PUTATIVE	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000316148.2		-	ENST00000393586.1	Silent	SNP	X : 153716401 - 153716401 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	387	121
C1orf174	339448	broad.mit.edu	37	1	3807396	3807396	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3807396G>T	ENST00000361605.3	-	3	453	c.355C>A	c.(355-357)Ctt>Att	p.L119I	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	119								p.L119F(1)		endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		CCGAGAGGAAGACTTGCAGCC	0.567		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)											60	56	57			NA	NA	1		NA											NA				3807396		2203	4300	6503	SO:0001583	missense			BC035643	CCDS53.1	1p36.32	2012-07-25			ENSG00000198912	ENSG00000198912	339448	339448			27915	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_207356	NM_207356	NA	Approved	RP13-531C17.2	uc001alf.3	Q8IYL3	OTTHUMG00000003739	ENST00000361605.3:c.355C>A	1.37:g.3807396G>T	ENSP00000355306:p.Leu119Ile	NA	A8K0C8|A8MUG9|Q5SR20|Q6NX36	37	CCDS53.1	.	.	.	.	.	.	.	.	.	.	G	7.960	0.746792	0.15710	.	.	ENSG00000198912	ENST00000361605	T	0.06687	3.27	5.21	0.505	0.16953	.	0.903882	0.09604	N	0.779923	T	0.05227	0.0139	L	0.34521	1.04	0.09310	N	1	P	0.43938	0.822	B	0.37387	0.248	T	0.36890	-0.9729	10	0.15066	T	0.55	0.0171	5.3028	0.15788	0.2274:0.3099:0.4627:0.0	.	119	Q8IYL3	CA174_HUMAN	I	119	ENSP00000355306:L119I	ENSP00000355306:L119I	L	-	1	0	C1orf174	3797256	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.130000	0.10498	0.195000	0.20347	0.563000	0.77884	CTT	C1orf174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000010539.1		-	ENST00000361605.3	Missense_Mutation	SNP	1 : 3807396 - 3807396 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	243	17
SLC25A11	8402	broad.mit.edu	37	17	4841116	4841116	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4841116G>A	ENST00000225665.7	-	8	1205	c.865C>T	c.(865-867)Ctg>Ttg	p.L289L	SLC25A11_ENST00000544061.2_Silent_p.L238L	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	289					gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						TGGGGGCCCAGGCGGGCATAG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(144;1178 2388 18010 48797)							NA				0													74	82	79			NA	NA	17		NA											NA				4841116		2203	4300	6503	SO:0001819	synonymous_variant			X66114	CCDS11059.1, CCDS54069.1	17p13.3	2013-05-22			ENSG00000108528	ENSG00000108528	8402	8402		Solute carriers	10981	protein-coding gene	gene with protein product		604165		SLC20A4	NA	10072597, 1457818	Standard	NM_003562	NM_003562	NA	Approved	OGC	uc002fzo.2	Q02978	OTTHUMG00000099395	ENST00000225665.7:c.865C>T	17.37:g.4841116G>A		NA	O75537|Q969P7	37	CCDS11059.1																																																																																			SLC25A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216852.4		-	ENST00000225665.7	Silent	SNP	17 : 4841116 - 4841116 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	603	109
MAN2B2	23324	broad.mit.edu	37	4	6578436	6578436	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6578436C>T	ENST00000285599.3	+	2	306	c.270C>T	c.(268-270)gaC>gaT	p.D90D	MAN2B2_ENST00000504248.1_Silent_p.D90D	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	90					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TCGCCTCGGACCAGCAGAAAT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4405	2.1+/-5.4	0,1,2202	65	65	65		270	-0.5	0.1	4		65	0,8600		0,0,4300	no	coding-synonymous	MAN2B2	NM_015274.1		0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077		90/1010	6578436	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288	23324	23324			29623	protein-coding gene	gene with protein product	core-specific lysosomal alpha-1,6-Mannosidase				NA	10231032, 16115860	Standard	NM_015274	XR_241647	NA	Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.270C>T	4.37:g.6578436C>T		NA	Q66MP2|Q86T67	37	CCDS33951.1	.	.	.	.	.	.	.	.	.	.	C	0.203	-1.043348	0.01997	2.27E-4	0.0	ENSG00000013288	ENST00000505907	.	.	.	3.67	-0.46	0.12175	.	.	.	.	.	T	0.30916	0.0780	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27365	-1.0076	4	.	.	.	.	7.1801	0.25768	0.0:0.2972:0.4966:0.2062	.	.	.	.	I	89	.	.	T	+	2	0	MAN2B2	6629337	0.000000	0.05858	0.135000	0.22099	0.251000	0.25915	-0.223000	0.09177	-0.768000	0.04626	-1.358000	0.01219	ACC	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359106.2		+	ENST00000285599.3	Silent	SNP	4 : 6578436 - 6578436 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	496	86
OR52A1	23538	broad.mit.edu	37	11	5173380	5173380	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5173380C>T	ENST00000380367.1	-	2	637	c.220G>A	c.(220-222)Gca>Aca	p.A74T	OR52A1_ENST00000328942.1_Missense_Mutation_p.A74T			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	74					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTAGCAAGTGCAATGTCTGTG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	67	69			NA	NA	11		NA											NA				5173380		2201	4298	6499	SO:0001583	missense			AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070	23538	23538		GPCR / Class A : Olfactory receptors	8318	protein-coding gene	gene with protein product					NA	10512676	Standard	NM_012375	NM_012375	NA	Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.220G>A	11.37:g.5173380C>T	ENSP00000369725:p.Ala74Thr	NA	Q6IF31	37	CCDS31374.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657534	0.29425	.	.	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.00402	7.56;7.56	5.37	2.45	0.29901	GPCR, rhodopsin-like superfamily (1);	0.806400	0.10768	N	0.636328	T	0.00384	0.0012	L	0.52823	1.66	0.09310	N	1	B	0.15719	0.014	B	0.14578	0.011	T	0.40021	-0.9585	10	0.45353	T	0.12	.	8.5773	0.33605	0.271:0.6566:0.0:0.0724	.	74	Q9UKL2	O52A1_HUMAN	T	74	ENSP00000369725:A74T;ENSP00000333684:A74T	ENSP00000333684:A74T	A	-	1	0	OR52A1	5129956	0.000000	0.05858	0.328000	0.25416	0.711000	0.40976	0.037000	0.13840	0.380000	0.24823	0.655000	0.94253	GCA	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000142810.2		-	ENST00000380367.1	Missense_Mutation	SNP	11 : 5173380 - 5173380 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	220	41
KLHL38	340359	broad.mit.edu	37	8	124664939	124664939	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124664939C>T	ENST00000325995.7	-	1	251	c.228G>A	c.(226-228)caG>caA	p.Q76Q	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	76	BTB.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TGCCTTTCAGCTGCACTTTGG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	84	81			NA	NA	8		NA											NA				124664939		2079	4200	6279	SO:0001819	synonymous_variant				CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946	340359	340359		Kelch-like, BTB/POZ domain containing	34435	protein-coding gene	gene with protein product			kelch-like 38 (Drosophila)		NA		Standard		NM_001081675	NA	Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.228G>A	8.37:g.124664939C>T		NA	A0PK12	37	CCDS43766.1																																																																																			KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381288.1		-	ENST00000325995.7	Silent	SNP	8 : 124664939 - 124664939 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	321	11
BEST3	144453	broad.mit.edu	37	12	70049199	70049199	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70049199G>T	ENST00000330891.5	-	10	1721	c.1495C>A	c.(1495-1497)Ctg>Atg	p.L499M	BEST3_ENST00000553096.1_Missense_Mutation_p.L393M|BEST3_ENST00000488961.1_Missense_Mutation_p.L286M|BEST3_ENST00000331471.4_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	499						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TCAGGTACCAGTGGCATTTTG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	132	132			NA	NA	12		NA											NA				70049199		2076	4208	6284	SO:0001583	missense			AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325	144453	144453		Ion channels / Chloride channels : Calcium activated : Bestrophins	17105	protein-coding gene	gene with protein product		607337	vitelliform macular dystrophy 2-like 3	VMD2L3	NA	12032738	Standard	NM_152439	NM_032735	NA	Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1495C>A	12.37:g.70049199G>T	ENSP00000332413:p.Leu499Met	NA	Q53YQ7|Q8N356|Q8NFT9|Q9BR80	37	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	G	3.251	-0.153276	0.06585	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	D;D;D	0.97906	-4.25;-4.6;-4.56	5.5	4.59	0.56863	.	0.763157	0.12006	N	0.508283	D	0.92714	0.7684	N	0.08118	0	0.19575	N	0.999961	B;B	0.14438	0.01;0.0	B;B	0.04013	0.001;0.001	D	0.86400	0.1741	10	0.46703	T	0.11	-2.0894	10.0521	0.42221	0.0:0.1495:0.6955:0.155	.	499;286	Q8N1M1;B5MDI8	BEST3_HUMAN;.	M	286;499;393	ENSP00000433213:L286M;ENSP00000332413:L499M;ENSP00000449548:L393M	ENSP00000332413:L499M	L	-	1	2	BEST3	68335466	0.014000	0.17966	0.021000	0.16686	0.017000	0.09413	1.913000	0.39956	1.267000	0.44247	0.563000	0.77884	CTG	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313908.2		-	ENST00000330891.5	Missense_Mutation	SNP	12 : 70049199 - 70049199 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	866	91
TNP2	7142	broad.mit.edu	37	16	11362939	11362939	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11362939C>A	ENST00000312693.3	-	1	250	c.181G>T	c.(181-183)Gga>Tga	p.G61*	RMI2_ENST00000572173.1_Intron	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN	transition protein 2 (during histone to protamine replacement)	61					cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						CTGTGGGCTCCAGTTGGGTTG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)											142	157	152			NA	NA	16		NA											NA				11362939		2075	4213	6288	SO:0001587	stop_gained				CCDS45410.1	16p13.13	2008-08-01				ENSG00000178279	7142	7142			11952	protein-coding gene	gene with protein product		190232			NA	1395729, 2250010	Standard	NM_005425	NM_005425	NA	Approved	TP2	uc002das.3	Q05952		ENST00000312693.3:c.181G>T	16.37:g.11362939C>A	ENSP00000325738:p.Gly61*	NA	Q9NZB0	37	CCDS45410.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698888	0.30142	.	.	ENSG00000178279	ENST00000312693	.	.	.	0.91	-1.43	0.08884	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	3.9045	0.09176	0.0:0.4369:0.0:0.5631	.	.	.	.	X	61	.	ENSP00000325738:G61X	G	-	1	0	TNP2	11270440	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.023000	0.01438	-0.602000	0.05775	-0.266000	0.10368	GGA	TNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417806.1		-	ENST00000312693.3	Nonsense_Mutation	SNP	16 : 11362939 - 11362939 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1190	208
DNAH5	1767	broad.mit.edu	37	5	13766267	13766267	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:13766267C>T	ENST00000265104.4	-	59	10023	c.9919G>A	c.(9919-9921)Gcc>Acc	p.A3307T	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3307	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.A3307T(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGAACAGTGGCGATGTCCGAA	0.522		NA							Kartagener syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											95	92	93			NA	NA	5		NA											NA				13766267		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139	1767	1767		Axonemal dyneins	2950	protein-coding gene	gene with protein product	dynein heavy chain 5	603335	dynein, axonemal, heavy polypeptide 5		NA	9256245, 11788826	Standard	NM_001369	NM_001369	NA	Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9919G>A	5.37:g.13766267C>T	ENSP00000265104:p.Ala3307Thr	NA	Q92860|Q96L74|Q9H5S7|Q9HCG9	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127535	0.77549	.	.	ENSG00000039139	ENST00000265104	T	0.69685	-0.42	5.63	5.63	0.86233	Dynein heavy chain, coiled coil stalk (1);	0.052284	0.85682	N	0.000000	T	0.64886	0.2639	L	0.49778	1.585	0.80722	D	1	B	0.17038	0.02	B	0.25884	0.064	T	0.58261	-0.7667	10	0.24483	T	0.36	.	19.7357	0.96202	0.0:1.0:0.0:0.0	.	3307	Q8TE73	DYH5_HUMAN	T	3307	ENSP00000265104:A3307T	ENSP00000265104:A3307T	A	-	1	0	DNAH5	13819267	1.000000	0.71417	0.284000	0.24805	0.684000	0.39900	7.683000	0.84093	2.660000	0.90430	0.558000	0.71614	GCC	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207057.2		-	ENST00000265104.4	Missense_Mutation	SNP	5 : 13766267 - 13766267 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	699	101
PCGF5	84333	broad.mit.edu	37	10	93011074	93011074	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93011074G>A	ENST00000336126.5	+	6	583	c.351G>A	c.(349-351)ccG>ccA	p.P117P	PCGF5_ENST00000543648.1_Silent_p.P117P	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						CTGACAAACCGAAAGTAGATG	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(178;732 2696 46441 50370)							NA				0													90	86	87			NA	NA	10		NA											NA				93011074		2202	4300	6502	SO:0001819	synonymous_variant			AL832003	CCDS7413.1	10q23.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000180628	ENSG00000180628	84333	84333		RING-type (C3HC4) zinc fingers, Polycomb group ring fingers	28264	protein-coding gene	gene with protein product			ring finger protein (C3HC4 type) 159	RNF159	NA	8076819	Standard	NM_032373	NM_001256549	NA	Approved	MGC16202	uc001khh.4	Q86SE9	OTTHUMG00000018740	ENST00000336126.5:c.351G>A	10.37:g.93011074G>A		NA	B7Z892|D3DR33|Q6PK47|Q86TD0	37	CCDS7413.1																																																																																			PCGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049363.1		+	ENST00000336126.5	Silent	SNP	10 : 93011074 - 93011074 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	221	34
RNF11	26994	broad.mit.edu	37	1	51736946	51736946	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:51736946C>T	ENST00000242719.3	+	3	903	c.417C>T	c.(415-417)tgC>tgT	p.C139C	RNF11_ENST00000494873.1_3'UTR	NM_014372.4	NP_055187.1	Q9Y3C5	RNF11_HUMAN	ring finger protein 11	139					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	DNA binding|protein binding|zinc ion binding	p.0?(2)		large_intestine(1)	1						GCCCCTCCTGCATGGAGCCAG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)											149	122	131			NA	NA	1		NA											NA				51736946		2203	4300	6503	SO:0001819	synonymous_variant			AB024703	CCDS556.1	1p32	2013-01-09			ENSG00000123091	ENSG00000123091	26994	26994		RING-type (C3HC4) zinc fingers	10056	protein-coding gene	gene with protein product		612598			NA	10673045, 10810093	Standard	NM_014372	NM_014372	NA	Approved	CGI-123, Sid1669p, MGC51169	uc001csi.4	Q9Y3C5	OTTHUMG00000008190	ENST00000242719.3:c.417C>T	1.37:g.51736946C>T		NA	A8KAI2|Q5T7R8	37	CCDS556.1																																																																																			RNF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022419.1		+	ENST00000242719.3	Silent	SNP	1 : 51736946 - 51736946 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	378	57
AUTS2	26053	broad.mit.edu	37	7	70231305	70231305	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:70231305G>A	ENST00000342771.4	+	9	1995	c.1674G>A	c.(1672-1674)acG>acA	p.T558T	AUTS2_ENST00000406775.2_Silent_p.T558T	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	558										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TCATGCCGACGCCAGCACCTC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													196	183	188			NA	NA	7		NA											NA				70231305		2203	4300	6503	SO:0001819	synonymous_variant			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321	26053	26053			14262	protein-coding gene	gene with protein product		607270			NA	12160723	Standard		XM_005250257	NA	Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1674G>A	7.37:g.70231305G>A		NA	A4D1Y9|Q5D049|Q9Y4F2	37	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	G	9.309	1.054992	0.19907	.	.	ENSG00000158321	ENST00000443672	.	.	.	5.32	4.38	0.52667	.	.	.	.	.	T	0.64103	0.2568	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62062	-0.6933	4	.	.	.	-7.7806	12.7117	0.57094	0.0:0.0:0.7115:0.2884	.	.	.	.	H	100	.	.	R	+	2	0	AUTS2	69869241	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.633000	0.37113	2.498000	0.84270	0.561000	0.74099	CGC	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251971.2		+	ENST00000342771.4	Silent	SNP	7 : 70231305 - 70231305 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	417	41
HIVEP1	3096	broad.mit.edu	37	6	12123223	12123223	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:12123223C>T	ENST00000379388.2	+	4	3527	c.3195C>T	c.(3193-3195)ggC>ggT	p.G1065G		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1065					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ATGCTCTGGGCTGTAATCCCA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	75	75			NA	NA	6		NA											NA				12123223		1867	4098	5965	SO:0001819	synonymous_variant			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951	3096	3096		Zinc fingers, C2H2-type	4920	protein-coding gene	gene with protein product		194540	human immunodeficiency virus type I enhancer-binding protein 1, zinc finger protein 40	ZNF40	NA	2037300	Standard	NM_002114	XR_241895	NA	Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.3195C>T	6.37:g.12123223C>T		NA	B2RTU3|Q14122|Q5MPB1|Q5VW60	37	CCDS43426.1																																																																																			HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039870.2		+	ENST00000379388.2	Silent	SNP	6 : 12123223 - 12123223 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	544	24
HMCN1	83872	broad.mit.edu	37	1	186057863	186057863	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186057863A>C	ENST00000271588.4	+	63	9932	c.9703A>C	c.(9703-9705)Aaa>Caa	p.K3235Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.K3235Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3235	Ig-like C2-type 30.				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						AAAAGCCCAGAAATATTACTT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	59	57			NA	NA	1		NA											NA				186057863		2203	4298	6501	SO:0001583	missense			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.9703A>C	1.37:g.186057863A>C	ENSP00000271588:p.Lys3235Gln	NA	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	17.84	3.488294	0.64074	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68765	-0.35;-0.35	5.37	5.37	0.77165	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76948	0.4059	L	0.56280	1.765	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.73867	-0.3847	10	0.25106	T	0.35	.	15.3835	0.74679	1.0:0.0:0.0:0.0	.	3235	Q96RW7	HMCN1_HUMAN	Q	3235	ENSP00000271588:K3235Q;ENSP00000356462:K3235Q	ENSP00000271588:K3235Q	K	+	1	0	HMCN1	184324486	1.000000	0.71417	0.990000	0.47175	0.199000	0.23934	8.923000	0.92808	2.028000	0.59812	0.528000	0.53228	AAA	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131848.1		+	ENST00000271588.4	Missense_Mutation	SNP	1 : 186057863 - 186057863 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	120	20
LTA4H	4048	broad.mit.edu	37	12	96412579	96412579	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:96412579C>A	ENST00000228740.2	-	8	955	c.814G>T	c.(814-816)Gag>Tag	p.E272*	LTA4H_ENST00000413268.2_Nonsense_Mutation_p.E248*|LTA4H_ENST00000552789.1_Nonsense_Mutation_p.E248*	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	272	Substrate binding.				hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						CAAGGATTCTCCATGCCACCA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	64	67			NA	NA	12		NA											NA				96412579		2203	4300	6503	SO:0001587	stop_gained			BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	4048	4048	3.3.2.6		6710	protein-coding gene	gene with protein product		151570			NA	7628486	Standard	NM_000895	NM_000895	NA	Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.814G>T	12.37:g.96412579C>A	ENSP00000228740:p.Glu272*	NA	B4DNQ9|Q6IAT6|Q9UCT7	37	CCDS9059.1	.	.	.	.	.	.	.	.	.	.	C	39	7.296889	0.98192	.	.	ENSG00000111144	ENST00000228740;ENST00000552789;ENST00000413268	.	.	.	5.15	5.15	0.70609	.	0.044140	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-21.386	18.9881	0.92780	0.0:1.0:0.0:0.0	.	.	.	.	X	272;248;248	.	ENSP00000228740:E272X	E	-	1	0	LTA4H	94936710	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.743000	0.85020	2.577000	0.86979	0.491000	0.48974	GAG	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408655.1		-	ENST00000228740.2	Nonsense_Mutation	SNP	12 : 96412579 - 96412579 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	219	51
TRIM36	55521	broad.mit.edu	37	5	114483023	114483023	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114483023C>A	ENST00000513154.1	-	3	657	c.331G>T	c.(331-333)Gat>Tat	p.D111Y	TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000282369.3_Missense_Mutation_p.D123Y|TRIM36_ENST00000514154.1_5'UTR			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	123						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TCTCCAAGATCCACATCATGC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	148	153			NA	NA	5		NA											NA				114483023		2202	4300	6502	SO:0001583	missense			AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503	55521	55521		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers, Fibronectin type III domain containing	16280	protein-coding gene	gene with protein product	zinc-binding protein Rbcc728, tripartite motif protein 36, RING finger protein 98	609317	tripartite motif-containing 36		NA	11331580	Standard	NM_018700	XM_005272031	NA	Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000513154.1:c.331G>T	5.37:g.114483023C>A	ENSP00000423934:p.Asp111Tyr	NA	A1L3Z1	37		.	.	.	.	.	.	.	.	.	.	C	24.2	4.508975	0.85282	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000508894	D;D;D	0.87887	-2.31;-2.31;-2.31	5.24	5.24	0.73138	Zinc finger, RING/FYVE/PHD-type (1);	0.098563	0.64402	D	0.000002	D	0.88855	0.6550	L	0.36672	1.1	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.77557	0.99;0.947	D	0.83406	0.0025	10	0.02654	T	1	.	18.8341	0.92153	0.0:1.0:0.0:0.0	.	111;123	E9PFI8;Q9NQ86	.;TRI36_HUMAN	Y	123;111;121	ENSP00000282369:D123Y;ENSP00000423934:D111Y;ENSP00000424743:D121Y	ENSP00000282369:D123Y	D	-	1	0	TRIM36	114510922	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.380000	0.79704	2.418000	0.82041	0.591000	0.81541	GAT	TRIM36-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000371017.1		-	ENST00000513154.1	Missense_Mutation	SNP	5 : 114483023 - 114483023 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	566	142
HERC1	8925	broad.mit.edu	37	15	63920906	63920906	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63920906T>C	ENST00000443617.2	-	70	13162	c.13075A>G	c.(13075-13077)Aca>Gca	p.T4359A		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4359					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GGTGGTGCTGTCCATGCAGCA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	86	85			NA	NA	15		NA											NA				63920906		1987	4174	6161	SO:0001583	missense			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657	8925	8925		WD repeat domain containing	4867	protein-coding gene	gene with protein product		605109	hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1		NA	8861955, 9233772	Standard	NM_003922	NM_003922	NA	Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.13075A>G	15.37:g.63920906T>C	ENSP00000390158:p.Thr4359Ala	NA	Q8IW65	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	T	18.55	3.648175	0.67358	.	.	ENSG00000103657	ENST00000443617	T	0.80033	-1.33	6.02	6.02	0.97574	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.138522	0.47093	D	0.000242	T	0.74589	0.3736	L	0.40543	1.245	0.80722	D	1	B	0.31077	0.307	B	0.24701	0.055	T	0.74751	-0.3559	10	0.72032	D	0.01	.	16.5494	0.84464	0.0:0.0:0.0:1.0	.	4359	Q15751	HERC1_HUMAN	A	4359	ENSP00000390158:T4359A	ENSP00000390158:T4359A	T	-	1	0	HERC1	61707959	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.196000	0.72094	2.299000	0.77371	0.528000	0.53228	ACA	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418523.1		-	ENST00000443617.2	Missense_Mutation	SNP	15 : 63920906 - 63920906 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	280	55
HUWE1	10075	broad.mit.edu	37	X	53575044	53575044	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53575044T>A	ENST00000342160.3	-	67	10683	c.10226A>T	c.(10225-10227)aAg>aTg	p.K3409M	HUWE1_ENST00000262854.6_Missense_Mutation_p.K3409M			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3409					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGGCACTGACTTCACGGAGTT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	51	56			NA	NA	X		NA											NA				53575044		2203	4299	6502	SO:0001583	missense			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758	10075	10075			30892	protein-coding gene	gene with protein product		300697	HECT, UBA and WWE domain containing 1		NA	9205841, 10998601	Standard	XM_497119	NM_031407	NA	Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.10226A>T	X.37:g.53575044T>A	ENSP00000340648:p.Lys3409Met	NA	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	37	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.07|13.07	2.128357|2.128357	0.37533|0.37533	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052;ENST00000426907|ENST00000342160;ENST00000262854	.|T;T	.|0.41065	.|1.01;1.01	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|0.436137	.|0.19696	.|N	.|0.108158	T|T	0.60547|0.60547	0.2277|0.2277	L|L	0.59436|0.59436	1.845|1.845	0.54753|0.54753	D|D	0.999987|0.999987	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.79784	.|0.984;0.993	T|T	0.62774|0.62774	-0.6783|-0.6783	5|10	.|0.72032	.|D	.|0.01	.|.	13.5123|13.5123	0.61519|0.61519	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|3409;3393	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	D|M	2442;246|3409	.|ENSP00000340648:K3409M;ENSP00000262854:K3409M	.|ENSP00000262854:K3409M	E|K	-|-	3|2	2|0	HUWE1|HUWE1	53591769|53591769	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	5.307000|5.307000	0.65762|0.65762	1.834000|1.834000	0.53371|0.53371	0.425000|0.425000	0.28330|0.28330	GAA|AAG	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056766.1		-	ENST00000342160.3	Missense_Mutation	SNP	X : 53575044 - 53575044 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	73	29
CXorf22	170063	broad.mit.edu	37	X	35993429	35993429	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:35993429G>A	ENST00000297866.5	+	14	2486	c.2420G>A	c.(2419-2421)aGt>aAt	p.S807N		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	807										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CCTACATCCAGTACTTATATT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	84	87			NA	NA	X		NA											NA				35993429		2201	4294	6495	SO:0001583	missense			BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164	170063	170063			28546	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152632	NM_152632	NA	Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2420G>A	X.37:g.35993429G>A	ENSP00000297866:p.Ser807Asn	NA	Q5JRM8|Q8N6X8	37	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	0.916	-0.717373	0.03182	.	.	ENSG00000165164	ENST00000297866	T	0.14391	2.51	5.3	0.859	0.19036	.	0.769651	0.13053	N	0.417491	T	0.12050	0.0293	L	0.57536	1.79	0.09310	N	1	B	0.12630	0.006	B	0.13407	0.009	T	0.32161	-0.9917	10	0.27785	T	0.31	-8.6299	4.7877	0.13232	0.3926:0.1574:0.45:0.0	.	807	Q6ZTR5	CX022_HUMAN	N	807	ENSP00000297866:S807N	ENSP00000297866:S807N	S	+	2	0	CXorf22	35903350	1.000000	0.71417	0.043000	0.18650	0.022000	0.10575	1.390000	0.34464	0.088000	0.17205	0.544000	0.68410	AGT	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056216.2		+	ENST00000297866.5	Missense_Mutation	SNP	X : 35993429 - 35993429 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	243	59
SEC24A	10802	broad.mit.edu	37	5	134032917	134032917	+	Nonsense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134032917T>G	ENST00000398844.2	+	14	2376	c.2088T>G	c.(2086-2088)taT>taG	p.Y696*		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	696					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTGGACAGTATTCTGATTTGG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													213	196	202			NA	NA	5		NA											NA				134032917		1863	4094	5957	SO:0001587	stop_gained			AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615	10802	10802			10703	protein-coding gene	gene with protein product		607183	SEC24 (S. cerevisiae) related gene family, member A, SEC24 family, member A (S. cerevisiae)		NA	10075675, 10329445	Standard		NM_021982	NA	Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.2088T>G	5.37:g.134032917T>G	ENSP00000381823:p.Tyr696*	NA	A8MVW3|Q8WUV2|Q96GP7	37	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	T	41	8.638871	0.98895	.	.	ENSG00000113615	ENST00000398844	.	.	.	5.59	1.89	0.25635	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.1559	8.6221	0.33866	0.0:0.365:0.0:0.635	.	.	.	.	X	696	.	ENSP00000381823:Y696X	Y	+	3	2	SEC24A	134060816	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.795000	0.38784	0.390000	0.25115	0.460000	0.39030	TAT	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000371563.1		+	ENST00000398844.2	Nonsense_Mutation	SNP	5 : 134032917 - 134032917 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	807	141
SLC38A8	146167	broad.mit.edu	37	16	84056473	84056473	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84056473T>C	ENST00000299709.3	-	6	711	c.712A>G	c.(712-714)Atc>Gtc	p.I238V		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	238					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTGCAGTAGATGGAGACGGCA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	55	61			NA	NA	16		NA											NA				84056473		2200	4300	6500	SO:0001583	missense				CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558	146167	146167		Solute carriers	32434	protein-coding gene	gene with protein product		615585			NA		Standard	NM_001080442	XM_006721135	NA	Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.712A>G	16.37:g.84056473T>C	ENSP00000299709:p.Ile238Val	NA		37	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	T	0.020	-1.442334	0.01089	.	.	ENSG00000166558	ENST00000299709	T	0.03860	3.78	5.37	1.73	0.24493	.	0.174225	0.49916	N	0.000124	T	0.02929	0.0087	N	0.17838	0.53	0.47737	D	0.999505	B	0.27013	0.166	B	0.28465	0.09	T	0.50996	-0.8761	10	0.12103	T	0.63	.	7.7735	0.29023	0.0:0.2919:0.0:0.7081	.	238	A6NNN8	S38A8_HUMAN	V	238	ENSP00000299709:I238V	ENSP00000299709:I238V	I	-	1	0	SLC38A8	82613974	1.000000	0.71417	0.998000	0.56505	0.061000	0.15899	1.236000	0.32683	0.305000	0.22832	-0.384000	0.06662	ATC	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432623.1		-	ENST00000299709.3	Missense_Mutation	SNP	16 : 84056473 - 84056473 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	185	19
DNAJC19	131118	broad.mit.edu	37	3	180706014	180706014	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:180706014T>C	ENST00000382564.2	-	2	177	c.7A>G	c.(7-9)Agt>Ggt	p.S3G	DNAJC19_ENST00000479269.1_5'UTR|DNAJC19_ENST00000486355.1_Missense_Mutation_p.S3G|DNAJC19_ENST00000491873.1_Intron	NM_145261.3	NP_660304.1	Q96DA6	TIM14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 19	3					genitalia development|protein folding|protein targeting to mitochondrion|transmembrane transport|visual perception	integral to membrane|mitochondrial inner membrane	heat shock protein binding			large_intestine(2)|lung(1)	3	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)			ACCACTGTACTGGCCTGGTAA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	73	74			NA	NA	3		NA											NA				180706014		2203	4300	6503	SO:0001583	missense				CCDS33895.1, CCDS54684.1	3q26.33	2014-09-17			ENSG00000205981	ENSG00000205981	131118	131118		Heat shock proteins / DNAJ (HSP40)	30528	protein-coding gene	gene with protein product		608977			NA	19564938	Standard	NM_145261	NM_145261	NA	Approved	TIMM14, Tim14, Pam18	uc003fkt.3	Q96DA6	OTTHUMG00000158180	ENST00000382564.2:c.7A>G	3.37:g.180706014T>C	ENSP00000372005:p.Ser3Gly	NA	B2R4B1	37	CCDS33895.1	.	.	.	.	.	.	.	.	.	.	T	14.25	2.478437	0.44044	.	.	ENSG00000205981	ENST00000382564	.	.	.	5.37	4.2	0.49525	.	0.162599	0.64402	N	0.000003	T	0.45013	0.1321	L	0.39326	1.205	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30060	-0.9991	9	0.32370	T	0.25	-1.0867	8.4651	0.32951	0.0:0.0942:0.0:0.9058	.	3	Q96DA6	TIM14_HUMAN	G	3	.	ENSP00000372005:S3G	S	-	1	0	DNAJC19	182188708	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.615000	0.46368	0.976000	0.38417	0.533000	0.62120	AGT	DNAJC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350336.1		-	ENST00000382564.2	Missense_Mutation	SNP	3 : 180706014 - 180706014 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	198	39
MEIOB	254528	broad.mit.edu	37	16	1903110	1903110	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1903110T>C	ENST00000470044.1	-	8	879	c.87A>G	c.(85-87)atA>atG	p.I29M	MEIOB_ENST00000325962.3_Missense_Mutation_p.I236M|MEIOB_ENST00000452149.2_Missense_Mutation_p.I236M|MEIOB_ENST00000397344.3_Missense_Mutation_p.I236M|MEIOB_ENST00000412554.2_Missense_Mutation_p.I236M					meiosis specific with OB domains	NA											NA						TGTCAAAATTTATTCTTACAT	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								T	MET/ILE,MET/ILE	0,4396		0,0,2198	55	53	54		708,708	5.8	1	16		54	1,8593		0,1,4296	no	missense,missense	C16orf73	NM_001163560.2,NM_152764.2	10,10	0,1,6494	CC,CT,TT	NA	0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	236/472,236/443	1903110	1,12989	2198	4297	6495	SO:0001583	missense			BC029829	CCDS10449.2, CCDS53983.1	16p13.3	2012-08-13	2012-08-13	2012-08-13	ENSG00000162039	ENSG00000162039	254528	254528			28569	protein-coding gene	gene with protein product			chromosome 16 open reading frame 73	C16orf73	NA	12477932	Standard	NM_152764	NM_152764	NA	Approved	MGC35212	uc010uvq.1	Q8N635	OTTHUMG00000128683	ENST00000470044.1:c.87A>G	16.37:g.1903110T>C	ENSP00000457416:p.Ile29Met	NA		37		.	.	.	.	.	.	.	.	.	.	T	12.67	2.006293	0.35415	0.0	1.16E-4	ENSG00000162039	ENST00000412554;ENST00000452149;ENST00000325962;ENST00000397344	T;T;T;T	0.09630	2.96;2.96;2.96;2.96	5.78	5.78	0.91487	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.106857	0.64402	D	0.000008	T	0.18467	0.0443	L	0.55103	1.725	0.39720	D	0.971455	P;D	0.54601	0.51;0.967	B;P	0.53593	0.228;0.73	T	0.01537	-1.1330	10	0.54805	T	0.06	.	7.8313	0.29344	0.1358:0.0:0.1416:0.7226	.	236;236	C9J0S1;Q8N635	.;CP073_HUMAN	M	236	ENSP00000390778:I236M;ENSP00000391033:I236M;ENSP00000314484:I236M;ENSP00000380504:I236M	ENSP00000314484:I236M	I	-	3	3	C16orf73	1843111	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.485000	0.22324	2.204000	0.70986	0.528000	0.53228	ATA	MEIOB-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000347845.2		-	ENST00000470044.1	Missense_Mutation	SNP	16 : 1903110 - 1903110 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	197	40
PHF20L1	51105	broad.mit.edu	37	8	133816275	133816275	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133816275T>G	ENST00000395386.2	+	7	1018	c.719T>G	c.(718-720)tTt>tGt	p.F240C	PHF20L1_ENST00000337920.4_Missense_Mutation_p.F214C|PHF20L1_ENST00000395376.1_Missense_Mutation_p.F244C|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395390.2_Missense_Mutation_p.F214C|PHF20L1_ENST00000395379.1_Missense_Mutation_p.F240C	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	240							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AGTGAAACATTTGGTACAAAA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	70	75			NA	NA	8		NA											NA				133816275		2203	4299	6502	SO:0001583	missense			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292	51105	51105		Tudor domain containing, Zinc fingers, PHD-type	24280	protein-coding gene	gene with protein product	tudor domain containing 20B				NA	10810093, 24492612	Standard	NM_016018	NM_016018	NA	Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.719T>G	8.37:g.133816275T>G	ENSP00000378784:p.Phe240Cys	NA	A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	37	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	T	18.90	3.721680	0.68959	.	.	ENSG00000129292	ENST00000395383;ENST00000395379;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000337920;ENST00000395376;ENST00000395382;ENST00000395390;ENST00000395374	T;T;T;T;T;T;T;T	0.53423	0.77;0.8;0.76;1.39;0.76;0.82;0.62;1.4	5.44	5.44	0.79542	.	0.355484	0.32836	N	0.005589	T	0.55257	0.1909	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.998;0.999;0.986	D;D;D;D;P	0.80764	0.976;0.919;0.994;0.965;0.794	T	0.54906	-0.8223	10	0.38643	T	0.18	-2.061	14.6865	0.69052	0.0:0.0:0.0:1.0	.	214;79;240;240;214	F8W9L8;G5E9D0;A8MW92;A8MW92-4;A8MW92-2	.;.;P20L1_HUMAN;.;.	C	244;240;214;240;240;214;244;110;214;79	ENSP00000378781:F244C;ENSP00000378777:F240C;ENSP00000355301:F214C;ENSP00000378784:F240C;ENSP00000324519:F240C;ENSP00000338269:F214C;ENSP00000378775:F244C;ENSP00000378788:F214C	ENSP00000324519:F240C	F	+	2	0	PHF20L1	133885457	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.182000	0.58310	2.073000	0.62155	0.477000	0.44152	TTT	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000308949.3		+	ENST00000395386.2	Missense_Mutation	SNP	8 : 133816275 - 133816275 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	247	43
ARFIP2	23647	broad.mit.edu	37	11	6500398	6500398	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6500398A>G	ENST00000254584.2	-	4	370	c.287T>C	c.(286-288)gTc>gCc	p.V96A	ARFIP2_ENST00000525235.1_Missense_Mutation_p.V96A|ARFIP2_ENST00000445086.2_Intron|ARFIP2_ENST00000396777.3_Missense_Mutation_p.V96A|ARFIP2_ENST00000423813.2_Missense_Mutation_p.V58A	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	96					actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCATTTCTTGACGATGTCAAA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(119;796 1674 9049 20480 24794)							NA				0													90	82	85			NA	NA	11		NA											NA				6500398		2201	4296	6497	SO:0001583	missense			BC000392	CCDS7765.1, CCDS55739.1, CCDS55740.1, CCDS73250.1	11p15	2008-08-01	2008-08-01		ENSG00000132254	ENSG00000132254	23647	23647			17160	protein-coding gene	gene with protein product	arfaptin 2	601638			NA	8670882, 9038142	Standard	NM_012402	NM_012402	NA	Approved	POR1	uc010ran.2	P53365	OTTHUMG00000133406	ENST00000254584.2:c.287T>C	11.37:g.6500398A>G	ENSP00000254584:p.Val96Ala	NA	D3DQT5	37	CCDS7765.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.003961	0.93287	.	.	ENSG00000132254	ENST00000254584;ENST00000396777;ENST00000423813;ENST00000525235	T;T;T	0.79352	-1.26;-1.26;-1.26	5.6	5.6	0.85130	.	0.215125	0.48767	D	0.000161	D	0.83510	0.5270	M	0.65498	2.005	0.80722	D	1	P;P	0.51537	0.946;0.863	P;P	0.54060	0.741;0.484	D	0.85554	0.1223	10	0.72032	D	0.01	.	15.4442	0.75216	1.0:0.0:0.0:0.0	.	129;96	B4DUZ3;P53365	.;ARFP2_HUMAN	A	96;96;58;96	ENSP00000254584:V96A;ENSP00000379998:V96A;ENSP00000398375:V58A	ENSP00000254584:V96A	V	-	2	0	ARFIP2	6456974	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	7.333000	0.79214	2.148000	0.66965	0.397000	0.26171	GTC	ARFIP2-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387044.1		-	ENST00000254584.2	Missense_Mutation	SNP	11 : 6500398 - 6500398 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	371	55
IL26	55801	broad.mit.edu	37	12	68619463	68619463	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:68619463T>C	ENST00000229134.4	-	1	138	c.74A>G	c.(73-75)cAa>cGa	p.Q25R	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	25					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		GAAGGAAGATTGCTTGTGCTT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													281	244	256			NA	NA	12		NA											NA				68619463		2203	4300	6503	SO:0001583	missense			AJ251549	CCDS8981.1	12q15	2008-08-04			ENSG00000111536	ENSG00000111536	55801	55801		Interleukins and interleukin receptors	17119	protein-coding gene	gene with protein product		605679			NA	10729163, 11528524	Standard	NM_018402	NM_018402	NA	Approved	AK155, IL-26	uc001stx.1	Q9NPH9	OTTHUMG00000169114	ENST00000229134.4:c.74A>G	12.37:g.68619463T>C	ENSP00000229134:p.Gln25Arg	NA		37	CCDS8981.1	.	.	.	.	.	.	.	.	.	.	T	6.148	0.395487	0.11638	.	.	ENSG00000111536	ENST00000229134	T	0.63255	-0.03	4.54	-3.12	0.05282	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.841659	0.10253	N	0.696898	T	0.45518	0.1346	L	0.36672	1.1	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.29305	-1.0016	9	.	.	.	.	8.342	0.32249	0.0:0.0805:0.5146:0.4049	.	25	Q9NPH9	IL26_HUMAN	R	25	ENSP00000229134:Q25R	.	Q	-	2	0	IL26	66905730	0.005000	0.15991	0.006000	0.13384	0.481000	0.33189	0.399000	0.20916	-0.619000	0.05648	0.379000	0.24179	CAA	IL26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402302.1		-	ENST00000229134.4	Missense_Mutation	SNP	12 : 68619463 - 68619463 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	847	164
SEC13	6396	broad.mit.edu	37	3	10354403	10354403	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10354403G>T	ENST00000397117.1	-	4	725	c.134C>A	c.(133-135)cCt>cAt	p.P45H	SEC13_ENST00000337354.4_Missense_Mutation_p.P62H|SEC13_ENST00000350697.3_Missense_Mutation_p.P59H|SEC13_ENST00000383801.2_Missense_Mutation_p.P105H|SEC13_ENST00000397109.3_Missense_Mutation_p.P45H			P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	59					COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						TTGCCACACAGGACCCTCATG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	90	92			NA	NA	3		NA											NA				10354403		2203	4300	6503	SO:0001583	missense				CCDS2599.1, CCDS46751.1, CCDS63540.1	3p25-p24	2013-01-10	2006-11-07	2006-11-07	ENSG00000157020	ENSG00000157020	6396	6396		WD repeat domain containing	10697	protein-coding gene	gene with protein product		600152	SEC13 (S. cerevisiae)-like 1, SEC13-like 1 (S. cerevisiae)	D3S1231E, SEC13L1	NA	7987303	Standard		NM_183352	NA	Approved	SEC13R, npp-20	uc003bvn.3	P55735	OTTHUMG00000128671	ENST00000397117.1:c.134C>A	3.37:g.10354403G>T	ENSP00000380306:p.Pro45His	NA	Q5BJF0|Q9BRM6|Q9BUG7	37		.	.	.	.	.	.	.	.	.	.	G	25.8	4.672335	0.88348	.	.	ENSG00000157020	ENST00000397109;ENST00000337354;ENST00000350697;ENST00000397117;ENST00000383801;ENST00000397105;ENST00000431352	T;T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05;0.05	4.93	4.93	0.64822	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.77432	0.4129	M	0.67569	2.06	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.80303	-0.1439	10	0.87932	D	0	.	15.6632	0.77206	0.0:0.0:1.0:0.0	.	59;59;45;105;59	A8MWR8;E9PHR5;A8MXL6;B4DXJ1;P55735	.;.;.;.;SEC13_HUMAN	H	45;62;59;45;105;59;62	ENSP00000380298:P45H;ENSP00000336566:P62H;ENSP00000312122:P59H;ENSP00000380306:P45H;ENSP00000373312:P105H;ENSP00000401368:P62H	ENSP00000336566:P62H	P	-	2	0	SEC13	10329403	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.715000	0.98748	2.276000	0.75962	0.561000	0.74099	CCT	SEC13-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000314429.1		-	ENST00000397117.1	Missense_Mutation	SNP	3 : 10354403 - 10354403 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	82
DNHD1	144132	broad.mit.edu	37	11	6588955	6588955	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6588955G>A	ENST00000527990.2	+	34	12216	c.12216G>A	c.(12214-12216)acG>acA	p.T4072T	DNHD1_ENST00000254579.6_Silent_p.T4072T			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4072					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ATGAAAACACGTATGCTCCCA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4128		0,0,2064	73	75	74		12216	1.7	0	11		74	2,8378		0,2,4188	no	coding-synonymous	DNHD1	NM_144666.2		0,2,6252	AA,AG,GG	NA	0.0239,0.0,0.016		4072/4754	6588955	2,12506	2064	4190	6254	SO:0001819	synonymous_variant			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532	144132	144132			26532	protein-coding gene	gene with protein product			chromosome 11 open reading frame 47, dynein heavy chain domain 1-like, coiled-coil domain containing 35	DHCD1, C11orf47, DNHD1L, CCDC35	NA	12975309	Standard	NM_144666	NM_173589	NA	Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.12216G>A	11.37:g.6588955G>A		NA	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	37	CCDS44532.1																																																																																			DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384673.2		+	ENST00000527990.2	Silent	SNP	11 : 6588955 - 6588955 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	513	102
DYRK4	8798	broad.mit.edu	37	12	4714099	4714099	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4714099C>T	ENST00000540757.2	+	9	961	c.801C>T	c.(799-801)agC>agT	p.S267S	DYRK4_ENST00000010132.5_Silent_p.S267S|DYRK4_ENST00000543431.1_Silent_p.S267S	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	267	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			ACATCCAAAGCCGGTTCTACC	0.562		NA									OREG0021598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	59	60			NA	NA	12		NA											NA				4714099		2203	4300	6503	SO:0001819	synonymous_variant			Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219	8798	8798			3095	protein-coding gene	gene with protein product		609181			NA	9748265	Standard		NM_003845	NA	Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.801C>T	12.37:g.4714099C>T		620	Q8NEF2|Q92631	37	CCDS8530.1																																																																																			DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398780.2		+	ENST00000540757.2	Silent	SNP	12 : 4714099 - 4714099 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	376	16
FAT4	79633	broad.mit.edu	37	4	126412394	126412394	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126412394G>A	ENST00000394329.3	+	17	14430	c.14417G>A	c.(14416-14418)tGc>tAc	p.C4806Y	FAT4_ENST00000335110.5_Missense_Mutation_p.C3047Y	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4806					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAAGTATCTGCAGTGCAGAC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	61	60			NA	NA	4		NA											NA				126412394		2203	4300	6503	SO:0001583	missense			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159	79633	79633		Cadherins / Cadherin-related	23109	protein-coding gene	gene with protein product	cadherin-related family member 11	612411	FAT tumor suppressor homolog 4 (Drosophila)		NA	15003449	Standard	NM_024582	NM_024582	NA	Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.14417G>A	4.37:g.126412394G>A	ENSP00000377862:p.Cys4806Tyr	NA	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	14.25	2.478360	0.44044	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.75589	-0.75;-0.95	4.87	4.87	0.63330	.	0.000000	0.37761	U	0.001958	D	0.83138	0.5189	L	0.57536	1.79	0.53005	D	0.999967	D;D;D	0.69078	0.997;0.995;0.997	D;P;D	0.66497	0.944;0.88;0.944	D	0.84756	0.0759	10	0.59425	D	0.04	.	17.0284	0.86454	0.0:0.0:1.0:0.0	.	3047;4806;4805	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	Y	4806;3047	ENSP00000377862:C4806Y;ENSP00000335169:C3047Y	ENSP00000335169:C3047Y	C	+	2	0	FAT4	126631844	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.135000	0.77276	2.253000	0.74438	0.491000	0.48974	TGC	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256765.2		+	ENST00000394329.3	Missense_Mutation	SNP	4 : 126412394 - 126412394 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	452	29
NDST4	64579	broad.mit.edu	37	4	115856370	115856370	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:115856370G>T	ENST00000264363.2	-	6	2206	c.1528C>A	c.(1528-1530)Cta>Ata	p.L510I		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	510	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ACTGGGTTTAGAAGGATTGTG	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													177	180	179			NA	NA	4		NA											NA				115856370		2203	4300	6503	SO:0001583	missense			AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653	64579	64579		Sulfotransferases, membrane-bound	20779	protein-coding gene	gene with protein product		615039			NA	11087757	Standard	NM_022569	NM_022569	NA	Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1528C>A	4.37:g.115856370G>T	ENSP00000264363:p.Leu510Ile	NA		37	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356548	0.61293	.	.	ENSG00000138653	ENST00000264363	T	0.38560	1.13	5.12	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.47266	0.1436	M	0.75777	2.31	0.53688	D	0.999978	P	0.38420	0.63	B	0.40602	0.334	T	0.49688	-0.8913	10	0.46703	T	0.11	.	13.4805	0.61332	0.076:0.0:0.924:0.0	.	510	Q9H3R1	NDST4_HUMAN	I	510	ENSP00000264363:L510I	ENSP00000264363:L510I	L	-	1	2	NDST4	116075819	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.918000	0.87506	1.128000	0.42052	0.591000	0.81541	CTA	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256427.1		-	ENST00000264363.2	Missense_Mutation	SNP	4 : 115856370 - 115856370 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	339	73
EIF2AK4	440275	broad.mit.edu	37	15	40303495	40303495	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40303495C>T	ENST00000263791.5	+	27	3750	c.3707C>T	c.(3706-3708)aCg>aTg	p.T1236M	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.T1208M	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1236	Histidyl-tRNA synthetase-like.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GAGAAGCTGACGAGGAGAGAA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	MET/THR	0,3748		0,0,1874	109	110	110		3707	6	1	15		110	1,8219		0,1,4109	no	missense	EIF2AK4	NM_001013703.2	81	0,1,5983	TT,TC,CC	NA	0.0122,0.0,0.0084	probably-damaging	1236/1650	40303495	1,11967	1874	4110	5984	SO:0001583	missense			AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829	440275	440275			19687	protein-coding gene	gene with protein product		609280			NA	10504407	Standard		XM_005254392	NA	Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.3707C>T	15.37:g.40303495C>T	ENSP00000263791:p.Thr1236Met	NA	C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	37	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669489	0.88348	0.0	1.22E-4	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.43294	0.95;0.95	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.61035	0.2315	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.54536	-0.8279	10	0.42905	T	0.14	-15.7224	20.4581	0.99154	0.0:1.0:0.0:0.0	.	1208;1236	Q9P2K8-2;Q9P2K8	.;E2AK4_HUMAN	M	1236;1208	ENSP00000263791:T1236M;ENSP00000372174:T1208M	ENSP00000263791:T1236M	T	+	2	0	EIF2AK4	38090787	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	6.554000	0.73923	2.835000	0.97688	0.650000	0.86243	ACG	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418395.1		+	ENST00000263791.5	Missense_Mutation	SNP	15 : 40303495 - 40303495 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	151	35
SAMD8	142891	broad.mit.edu	37	10	76928312	76928312	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76928312C>T	ENST00000372687.4	+	4	773	c.688C>T	c.(688-690)Cga>Tga	p.R230*	SAMD8_ENST00000542569.1_Nonsense_Mutation_p.R230*|SAMD8_ENST00000372690.3_Nonsense_Mutation_p.R293*			Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	NA					sphingomyelin biosynthetic process	integral to membrane				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					AATACTTCTGCGAAGGCTCTG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													309	291	297			NA	NA	10		NA											NA				76928312		2203	4300	6503	SO:0001587	stop_gained			AK057811	CCDS7347.1, CCDS53543.1	10q22.3	2013-01-10			ENSG00000156671	ENSG00000156671	142891	142891		Sterile alpha motif (SAM) domain containing	26320	protein-coding gene	gene with protein product		611575			NA		Standard	NM_144660	NM_144660	NA	Approved	FLJ25082	uc001jwx.2	Q96LT4	OTTHUMG00000018515	ENST00000372687.4:c.688C>T	10.37:g.76928312C>T	ENSP00000361772:p.Arg230*	NA	Q5JSC5|Q5JSC8|Q66K52	37	CCDS7347.1	.	.	.	.	.	.	.	.	.	.	C	36	5.632714	0.96682	.	.	ENSG00000156671	ENST00000447533;ENST00000372690;ENST00000542569;ENST00000372687	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-33.208	19.5724	0.95427	0.0:1.0:0.0:0.0	.	.	.	.	X	230;293;230;230	.	ENSP00000361772:R230X	R	+	1	2	SAMD8	76598318	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.071000	0.71229	2.624000	0.88883	0.650000	0.86243	CGA	SAMD8-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048780.2		+	ENST00000372687.4	Nonsense_Mutation	SNP	10 : 76928312 - 76928312 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	843	211
EED	8726	broad.mit.edu	37	11	85988142	85988142	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85988142A>G	ENST00000528180.1	+	8	1324	c.847A>G	c.(847-849)Att>Gtt	p.I283V	EED_ENST00000351625.6_Missense_Mutation_p.I388V|EED_ENST00000327320.4_Missense_Mutation_p.I363V|EED_ENST00000263360.6_Missense_Mutation_p.I363V|EED_ENST00000527888.1_Missense_Mutation_p.I28V			O75530	EED_HUMAN	embryonic ectoderm development	363	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				CCAGTGTGACATTTGGTACAT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	171	170			NA	NA	11		NA											NA				85988142		2202	4299	6501	SO:0001583	missense			AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266	8726	8726		WD repeat domain containing	3188	protein-coding gene	gene with protein product	WD protein associating with integrin cytoplasmic tails 1	605984			NA	9765275, 9806832	Standard	NM_003797	NM_003797	NA	Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000528180.1:c.847A>G	11.37:g.85988142A>G	ENSP00000431778:p.Ile283Val	NA	A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	37		.	.	.	.	.	.	.	.	.	.	A	27.7	4.856552	0.91355	.	.	ENSG00000074266	ENST00000263360;ENST00000528180;ENST00000351625;ENST00000327320;ENST00000534564;ENST00000524673;ENST00000527888	T;T;T;T;T	0.64618	1.71;1.62;1.71;1.71;-0.11	5.74	5.74	0.90152	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.74245	0.3691	L	0.56280	1.765	0.80722	D	1	P;D;P;B	0.59357	0.684;0.985;0.867;0.226	P;D;P;B	0.67548	0.525;0.952;0.664;0.19	T	0.73363	-0.4006	9	.	.	.	-14.2414	16.0343	0.80612	1.0:0.0:0.0:0.0	.	363;283;388;363	O75530-3;E9PJK2;O75530-2;O75530	.;.;.;EED_HUMAN	V	363;283;388;363;112;28;28	ENSP00000263360:I363V;ENSP00000431778:I283V;ENSP00000338186:I388V;ENSP00000315587:I363V;ENSP00000437318:I28V	.	I	+	1	0	EED	85665790	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.850000	0.92190	2.198000	0.70561	0.533000	0.62120	ATT	EED-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000393734.1		+	ENST00000528180.1	Missense_Mutation	SNP	11 : 85988142 - 85988142 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	655	123
CD33	945	broad.mit.edu	37	19	51728523	51728523	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51728523G>A	ENST00000262262.4	+	2	108	c.87G>A	c.(85-87)gtG>gtA	p.V29V	CD33_ENST00000391796.3_Silent_p.V29V|CD33_ENST00000421133.2_Intron|CD33_ENST00000436584.2_Intron	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	29	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	AGGAGTCAGTGACGGTACAGG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	60	60			NA	NA	19		NA											NA				51728523		2203	4300	6503	SO:0001819	synonymous_variant			M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383	945	945		CD molecules, Sialic acid binding Ig-like lectins, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	1659	protein-coding gene	gene with protein product	sialic acid binding Ig-like lectin 3	159590	CD33 antigen (gp67)		NA	3139766, 9465907	Standard	NM_001772	NM_001772	NA	Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.87G>A	19.37:g.51728523G>A		NA	Q8TD24	37	CCDS33084.1																																																																																			CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464199.2		+	ENST00000262262.4	Silent	SNP	19 : 51728523 - 51728523 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	432	81
GLRA2	2742	broad.mit.edu	37	X	14548183	14548183	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:14548183A>G	ENST00000218075.4	+	1	534	c.4A>G	c.(4-6)Aac>Gac	p.N2D	GLRA2_ENST00000443437.2_5'UTR|GLRA2_ENST00000355020.4_Missense_Mutation_p.N2D	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	2					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	AACAGGAATGAACCGGCAGCT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	104	109			NA	NA	X		NA											NA				14548183		2203	4300	6503	SO:0001583	missense				CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958	2742	2742		Ligand-gated ion channels / Glycine receptors	4327	protein-coding gene	gene with protein product		305990		GLR	NA		Standard		NM_002063	NA	Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.4A>G	X.37:g.14548183A>G	ENSP00000218075:p.Asn2Asp	NA	A8K0J6|B2R6I8|Q53YX7|Q6ICQ0|Q99862	37	CCDS14160.1	.	.	.	.	.	.	.	.	.	.	A	11.34	1.609106	0.28623	.	.	ENSG00000101958	ENST00000218075;ENST00000355020	T;T	0.79141	-1.24;-1.24	5.47	4.28	0.50868	.	0.080983	0.52532	D	0.000071	T	0.67116	0.2859	N	0.08118	0	0.80722	D	1	P;P	0.49696	0.88;0.927	P;P	0.56563	0.636;0.801	T	0.62053	-0.6935	10	0.07644	T	0.81	.	10.5663	0.45175	0.8539:0.0:0.0:0.1461	.	2;2	P23416;P23416-2	GLRA2_HUMAN;.	D	2	ENSP00000218075:N2D;ENSP00000347123:N2D	ENSP00000218075:N2D	N	+	1	0	GLRA2	14458104	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.505000	0.60421	0.777000	0.33496	0.441000	0.28932	AAC	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055829.1		+	ENST00000218075.4	Missense_Mutation	SNP	X : 14548183 - 14548183 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	392	110
MBD2	8932	broad.mit.edu	37	18	51686244	51686244	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51686244C>T	ENST00000256429.3	-	6	1367	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	MBD2_ENST00000579025.1_5'UTR	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	380					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	CAATTTCTTGCGTACTTGCTG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	134	145			NA	NA	18		NA											NA				51686244		2203	4300	6503	SO:0001583	missense			AF072242	CCDS11953.1, CCDS45871.1	18q21	2008-08-01			ENSG00000134046	ENSG00000134046	8932	8932			6917	protein-coding gene	gene with protein product		603547			NA	9774669, 10441743	Standard	NM_003927	NM_003927	NA	Approved		uc002lfg.2	Q9UBB5	OTTHUMG00000132705	ENST00000256429.3:c.1139G>A	18.37:g.51686244C>T	ENSP00000256429:p.Arg380His	NA	O95242|Q9UIS8	37	CCDS11953.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483729	0.84854	.	.	ENSG00000134046	ENST00000256429	D	0.99567	-6.18	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.99667	0.9876	M	0.89414	3.03	0.80722	D	1	D	0.76494	0.999	D	0.70487	0.969	D	0.98021	1.0371	10	0.87932	D	0	-11.7965	18.7698	0.91887	0.0:1.0:0.0:0.0	.	380	Q9UBB5	MBD2_HUMAN	H	380	ENSP00000256429:R380H	ENSP00000256429:R380H	R	-	2	0	MBD2	49940242	1.000000	0.71417	0.188000	0.23233	0.464000	0.32679	7.456000	0.80751	2.724000	0.93272	0.561000	0.74099	CGC	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256003.2		-	ENST00000256429.3	Missense_Mutation	SNP	18 : 51686244 - 51686244 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	412	55
HMMR	3161	broad.mit.edu	37	5	162891738	162891738	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:162891738A>T	ENST00000393915.4	+	3	298	c.155A>T	c.(154-156)cAa>cTa	p.Q52L	HMMR_ENST00000358715.3_Missense_Mutation_p.Q52L|HMMR_ENST00000432118.2_Intron|HMMR_ENST00000353866.3_Missense_Mutation_p.Q52L	NM_001142556.1|NM_012484.2	NP_001136028.1|NP_036616.2	O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	52						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		GAATCTAAACAAAATCTTAAT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	112	113			NA	NA	5		NA											NA				162891738		2203	4300	6503	SO:0001583	missense			U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571	3161	3161		CD molecules	5012	protein-coding gene	gene with protein product		600936			NA		Standard	NM_012484	NM_001142556	NA	Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000393915.4:c.155A>T	5.37:g.162891738A>T	ENSP00000377492:p.Gln52Leu	NA	A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	37	CCDS47334.1	.	.	.	.	.	.	.	.	.	.	A	11.83	1.756322	0.31137	.	.	ENSG00000072571	ENST00000353866;ENST00000434157;ENST00000393915;ENST00000426586;ENST00000358715	T;T;T	0.09163	3.01;3.04;3.04	5.0	3.82	0.43975	.	0.570850	0.18749	N	0.132230	T	0.13157	0.0319	N	0.24115	0.695	0.30261	N	0.793177	P;P;P	0.52692	0.955;0.902;0.902	P;B;P	0.53861	0.736;0.442;0.523	T	0.03077	-1.1075	10	0.59425	D	0.04	-14.182	9.073	0.36504	0.8144:0.1856:0.0:0.0	.	52;52;52	O75330-3;O75330-2;O75330	.;.;HMMR_HUMAN	L	52	ENSP00000185942:Q52L;ENSP00000377492:Q52L;ENSP00000351554:Q52L	ENSP00000185942:Q52L	Q	+	2	0	HMMR	162824316	1.000000	0.71417	0.998000	0.56505	0.007000	0.05969	2.570000	0.45981	0.848000	0.35191	-0.316000	0.08728	CAA	HMMR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252751.1		+	ENST00000393915.4	Missense_Mutation	SNP	5 : 162891738 - 162891738 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	311	65
ITIH1	3697	broad.mit.edu	37	3	52814339	52814339	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52814339T>G	ENST00000273283.2	+	6	652	c.628T>G	c.(628-630)Tct>Gct	p.S210A	ITIH1_ENST00000487686.1_3'UTR|ITIH1_ENST00000537050.1_5'UTR|ITIH1_ENST00000542827.1_Missense_Mutation_p.S210A|ITIH1_ENST00000540715.1_Missense_Mutation_p.S68A	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	210					hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TGCCCAGGCCTCTTTCCTGCC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	42	42			NA	NA	3		NA											NA				52814339		2203	4300	6503	SO:0001583	missense				CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957	3697	3697			6166	protein-coding gene	gene with protein product		147270	inter-alpha (globulin) inhibitor, H1 polypeptide		NA	1385302, 10100603	Standard	NM_002215	NM_002215	NA	Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.628T>G	3.37:g.52814339T>G	ENSP00000273283:p.Ser210Ala	NA	A8K9N5|B2RAH9|P78455|Q01746|Q562G1	37	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	T	17.32	3.360543	0.61403	.	.	ENSG00000055957	ENST00000542827;ENST00000273283;ENST00000540715	T;T;T	0.02369	4.32;4.84;4.72	6.07	-4.65	0.03339	.	0.193262	0.53938	D	0.000043	T	0.03827	0.0108	M	0.69823	2.125	0.80722	D	1	B	0.30542	0.284	B	0.36845	0.234	T	0.33111	-0.9881	10	0.66056	D	0.02	-15.0808	4.8638	0.13598	0.3522:0.3161:0.0:0.3317	.	210	P19827	ITIH1_HUMAN	A	210;210;68	ENSP00000442584:S210A;ENSP00000273283:S210A;ENSP00000443973:S68A	ENSP00000273283:S210A	S	+	1	0	ITIH1	52789379	0.887000	0.30362	0.992000	0.48379	0.710000	0.40934	0.402000	0.20965	-0.299000	0.08909	-0.274000	0.10170	TCT	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317522.1		+	ENST00000273283.2	Missense_Mutation	SNP	3 : 52814339 - 52814339 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	201	36
CRB1	23418	broad.mit.edu	37	1	197297875	197297875	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197297875C>T	ENST00000367399.2	+	2	394	c.394C>T	c.(394-396)Cct>Tct	p.P132S	CRB1_ENST00000538660.1_Missense_Mutation_p.P132S|CRB1_ENST00000367400.3_Missense_Mutation_p.P132S|CRB1_ENST00000535699.1_Missense_Mutation_p.P63S	NM_001193640.1	NP_001180569.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	246	EGF-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CCCTATTTATCCTGTCTGCAT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	80	85			NA	NA	1		NA											NA				197297875		2203	4300	6503	SO:0001583	missense				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376	23418	23418			2343	protein-coding gene	gene with protein product		604210	crumbs (Drosophila) homolog 1, crumbs homolog 1 (Drosophila)	RP12	NA	10373321, 10508521	Standard	NM_201253	NM_201253	NA	Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367399.2:c.394C>T	1.37:g.197297875C>T	ENSP00000356369:p.Pro132Ser	NA	A2A308|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0	37	CCDS53454.1	.	.	.	.	.	.	.	.	.	.	C	8.976	0.974088	0.18736	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399	T;D;D;D	0.91577	3.21;-2.22;-1.74;-2.87	5.73	5.73	0.89815	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.90164	0.6926	N	0.12887	0.27	0.80722	D	1	D;D;B;D;D	0.89917	0.976;0.966;0.163;1.0;1.0	P;P;B;D;D	0.85130	0.772;0.64;0.102;0.997;0.986	D	0.91156	0.4957	9	0.72032	D	0.01	.	13.4768	0.61314	0.0:0.9285:0.0:0.0715	.	132;63;132;132;157	B7Z5T2;F5H0L2;P82279-3;P82279;Q59H36	.;.;.;CRUM1_HUMAN;.	S	63;132;132;132	ENSP00000438786:P63S;ENSP00000438091:P132S;ENSP00000356370:P132S;ENSP00000356369:P132S	ENSP00000356369:P132S	P	+	1	0	CRB1	195564498	.	.	0.087000	0.20705	0.095000	0.18619	.	.	2.854000	0.98071	0.655000	0.94253	CCT	CRB1-005	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280653.1		+	ENST00000367399.2	Missense_Mutation	SNP	1 : 197297875 - 197297875 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	170	27
SENP5	205564	broad.mit.edu	37	3	196613102	196613102	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196613102C>A	ENST00000323460.5	+	2	1299	c.1050C>A	c.(1048-1050)ggC>ggA	p.G350G	SENP5_ENST00000445299.2_Silent_p.G350G|SENP5_ENST00000419026.1_Intron	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	350					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		AACAGAATGGCAGTGCCACAA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(47;891 1095 11174 13858 51271)							NA				0													79	71	73			NA	NA	3		NA											NA				196613102		2203	4300	6503	SO:0001819	synonymous_variant			BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231	205564	205564			28407	protein-coding gene	gene with protein product		612845	SUMO1/sentrin specific protease 5		NA	12477932	Standard	NM_152699	NM_152699	NA	Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.1050C>A	3.37:g.196613102C>A		NA	Q96SA5	37	CCDS3322.1																																																																																			SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340524.1		+	ENST00000323460.5	Silent	SNP	3 : 196613102 - 196613102 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	286	18
ZNF277	11179	broad.mit.edu	37	7	111979911	111979911	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111979911T>G	ENST00000361822.3	+	10	1109	c.980T>G	c.(979-981)tTt>tGt	p.F327C	AC004112.4_ENST00000431064.1_RNA|AC004112.4_ENST00000411413.1_RNA	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	327						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						GCACACGAATTTGATCTTCTC	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	140	143			NA	NA	7		NA											NA				111979911		2201	4297	6498	SO:0001583	missense			AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839	11179	11179			13070	protein-coding gene	gene with protein product		605465	zinc finger protein (C2H2 type) 277, zinc finger protein 277 pseudogene	ZNF277P	NA	10860669, 16213364, 16395595	Standard	NM_021994	NM_021994	NA	Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.980T>G	7.37:g.111979911T>G	ENSP00000354501:p.Phe327Cys	NA	Q75MZ2|Q75MZ3|Q8WY14	37	CCDS5755.2	.	.	.	.	.	.	.	.	.	.	T	21.9	4.210912	0.79240	.	.	ENSG00000198839	ENST00000361822;ENST00000421864	T;T	0.64618	-0.11;-0.11	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.82098	0.4963	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85404	0.1133	10	0.87932	D	0	-21.357	16.3035	0.82836	0.0:0.0:0.0:1.0	.	327	Q9NRM2	ZN277_HUMAN	C	327;38	ENSP00000354501:F327C;ENSP00000415735:F38C	ENSP00000354501:F327C	F	+	2	0	ZNF277	111767147	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.798000	0.75155	2.299000	0.77371	0.528000	0.53228	TTT	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316843.2		+	ENST00000361822.3	Missense_Mutation	SNP	7 : 111979911 - 111979911 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	422	61
PCDHGA3	56112	broad.mit.edu	37	5	140724569	140724569	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140724569T>C	ENST00000253812.6	+	1	969	c.969T>C	c.(967-969)gaT>gaC	p.D323D	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			protocadherin gamma subfamily A, 3	NA										breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCACAGGATGGACCAGGTC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	72	72			NA	NA	5		NA											NA				140724569		1988	4217	6205	SO:0001819	synonymous_variant			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245	56112	56112		Cadherins / Protocadherins : Clustered	8701	other	protocadherin		606290			NA	10380929	Standard	NM_018916	NM_032011	NA	Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.969T>C	5.37:g.140724569T>C		NA		37	CCDS47290.1																																																																																			PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377017.1		+	ENST00000253812.6	Silent	SNP	5 : 140724569 - 140724569 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	390	82
EFCAB6	64800	broad.mit.edu	37	22	44131843	44131843	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44131843C>T	ENST00000262726.7	-	7	791	c.538G>A	c.(538-540)Gcc>Acc	p.A180T	EFCAB6_ENST00000396231.2_Missense_Mutation_p.A28T|EFCAB6_ENST00000358439.4_Missense_Mutation_p.A74T|EFCAB6_ENST00000356087.4_Missense_Mutation_p.A74T	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	180	EF-hand 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AGCTCAAAGGCTTTCATAACA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	115	117			NA	NA	22		NA											NA				44131843		2203	4300	6503	SO:0001583	missense			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976	64800	64800		EF-hand domain containing	24204	protein-coding gene	gene with protein product					NA	11258795, 12612053	Standard	NM_022785	NM_022785	NA	Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.538G>A	22.37:g.44131843C>T	ENSP00000262726:p.Ala180Thr	NA	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	37	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024267	0.54683	.	.	ENSG00000186976	ENST00000396231;ENST00000262726;ENST00000358439;ENST00000356087	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	5.14	5.14	0.70334	EF-hand-like domain (1);	0.189738	0.31859	N	0.006945	T	0.53190	0.1781	M	0.83118	2.625	0.29855	N	0.828138	D;D;D;P	0.65815	0.976;0.995;0.962;0.851	P;D;P;B	0.64144	0.606;0.922;0.681;0.307	T	0.54642	-0.8263	10	0.20519	T	0.43	-25.4603	6.6988	0.23213	0.2817:0.6351:0.0:0.0833	.	74;74;180;180	B4DKR4;B0QYI5;Q5THR3-6;Q5THR3	.;.;.;EFCB6_HUMAN	T	28;180;74;74	ENSP00000379533:A28T;ENSP00000262726:A180T;ENSP00000351219:A74T;ENSP00000348391:A74T	ENSP00000262726:A180T	A	-	1	0	EFCAB6	42463176	0.994000	0.37717	0.875000	0.34327	0.886000	0.51366	1.392000	0.34486	2.835000	0.97688	0.591000	0.81541	GCC	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353176.1		-	ENST00000262726.7	Missense_Mutation	SNP	22 : 44131843 - 44131843 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	441	77
DGCR8	54487	broad.mit.edu	37	22	20073696	20073696	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20073696C>T	ENST00000351989.3	+	2	639	c.210C>T	c.(208-210)taC>taT	p.Y70Y	DGCR8_ENST00000407755.1_Silent_p.Y70Y|DGCR8_ENST00000383024.2_Silent_p.Y70Y	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	70	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TCAACTTCTACGGAGCTTCTC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	74	73			NA	NA	22		NA											NA				20073696		2203	4300	6503	SO:0001819	synonymous_variant			AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191	54487	54487			2847	protein-coding gene	gene with protein product		609030	chromosome 22 open reading frame 12, DiGeorge syndrome critical region gene 8	C22orf12	NA	21454614	Standard		NM_001190326	NA	Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.210C>T	22.37:g.20073696C>T		NA	B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	37	CCDS13773.1																																																																																			DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318654.1		+	ENST00000351989.3	Silent	SNP	22 : 20073696 - 20073696 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	589	114
TOP3A	7156	broad.mit.edu	37	17	18194223	18194223	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18194223G>A	ENST00000321105.5	-	12	1614	c.1400C>T	c.(1399-1401)gCc>gTc	p.A467V	TOP3A_ENST00000540524.1_5'UTR|TOP3A_ENST00000542570.1_Missense_Mutation_p.A372V	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	467					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GAGGCCATGGGCCACAAAGCG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	121	124			NA	NA	17		NA											NA				18194223		2203	4300	6503	SO:0001583	missense			U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302	7156	7156			11992	protein-coding gene	gene with protein product	zinc finger, GRF-type containing 7	601243		TOP3	NA	9450867	Standard		NM_004618	NA	Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.1400C>T	17.37:g.18194223G>A	ENSP00000321636:p.Ala467Val	NA	A8KA61|D3DXC7|Q13473	37	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466920	0.63625	.	.	ENSG00000177302	ENST00000321105;ENST00000542570	T;T	0.26957	1.7;1.7	5.72	5.72	0.89469	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, DNA-binding (1);	0.099623	0.64402	D	0.000001	T	0.52725	0.1752	M	0.77712	2.385	0.80722	D	1	D;D	0.71674	0.998;0.99	D;P	0.63283	0.913;0.859	T	0.51560	-0.8690	10	0.51188	T	0.08	-22.6968	19.8731	0.96858	0.0:0.0:1.0:0.0	.	372;467	B4DK80;Q13472	.;TOP3A_HUMAN	V	467;372	ENSP00000321636:A467V;ENSP00000442336:A372V	ENSP00000321636:A467V	A	-	2	0	TOP3A	18134948	1.000000	0.71417	0.997000	0.53966	0.795000	0.44927	7.829000	0.86735	2.699000	0.92147	0.563000	0.77884	GCC	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132052.2		-	ENST00000321105.5	Missense_Mutation	SNP	17 : 18194223 - 18194223 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	334	40
WWTR1	25937	broad.mit.edu	37	3	149245659	149245659	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:149245659G>A	ENST00000465804.1	-	6	1125	c.869C>T	c.(868-870)tCc>tTc	p.S290F	WWTR1_ENST00000360632.3_Missense_Mutation_p.S290F|WWTR1_ENST00000467467.1_Missense_Mutation_p.S290F	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	290					hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			ATTAGTGATGGATCTCATGTC	0.453		NA	T	CAMTA1	epitheliod hemangioendothelioma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		3	3q23-q24	607392	WW domain containing transcription regulator 1		M	0													182	190	187			NA	NA	3		NA											NA				149245659		2203	4300	6503	SO:0001583	missense			AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408	25937	25937			24042	protein-coding gene	gene with protein product		607392			NA	11118213, 15096513	Standard	NM_015472	NM_015472	NA	Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.869C>T	3.37:g.149245659G>A	ENSP00000419465:p.Ser290Phe	NA	D3DNH7|Q8N3P2|Q9Y3W6	37	CCDS3144.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.074916	0.55646	.	.	ENSG00000018408	ENST00000465804;ENST00000360632;ENST00000467467;ENST00000472417	T;T;T	0.50001	0.76;0.76;0.76	5.09	5.09	0.68999	.	0.529823	0.21552	N	0.072719	T	0.37265	0.0997	N	0.17082	0.46	0.34495	D	0.705368	B	0.06786	0.001	B	0.04013	0.001	T	0.46843	-0.9162	10	0.87932	D	0	-13.2046	18.9259	0.92544	0.0:0.0:1.0:0.0	.	290	Q9GZV5	WWTR1_HUMAN	F	290;290;290;148	ENSP00000419465:S290F;ENSP00000353847:S290F;ENSP00000419234:S290F	ENSP00000353847:S290F	S	-	2	0	WWTR1	150728349	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.211000	0.77933	2.530000	0.85305	0.644000	0.83932	TCC	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356498.1		-	ENST00000465804.1	Missense_Mutation	SNP	3 : 149245659 - 149245659 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1045	34
ZNF257	113835	broad.mit.edu	37	19	22270975	22270975	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22270975G>T	ENST00000594947.1	+	4	567	c.423G>T	c.(421-423)caG>caT	p.Q141H	ZNF257_ENST00000600162.1_3'UTR	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAACTACCCAGAGCAAAATGT	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	73	71			NA	NA	19		NA											NA				22270975		2178	4290	6468	SO:0001583	missense			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134	113835	113835		Zinc fingers, C2H2-type, -	13498	protein-coding gene	gene with protein product		606957			NA	10585455	Standard		NM_033468	NA	Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.423G>T	19.37:g.22270975G>T	ENSP00000470209:p.Gln141His	NA	B3KPS4|E9PG34|Q8NE34	37	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	G	3.686	-0.064607	0.07273	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	0.926	-0.301	0.12800	.	.	.	.	.	T	0.27169	0.0666	L	0.39085	1.19	0.09310	N	1	B	0.21520	0.057	B	0.22601	0.04	T	0.24154	-1.0168	8	0.37606	T	0.19	.	2.7022	0.05152	0.4382:0.0:0.5618:0.0	.	141	Q9Y2Q1	ZN257_HUMAN	H	141	.	ENSP00000380312:Q141H	Q	+	3	2	ZNF257	22062815	0.012000	0.17670	0.045000	0.18777	0.427000	0.31564	-0.124000	0.10595	0.308000	0.22923	0.313000	0.20887	CAG	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464382.1		+	ENST00000594947.1	Missense_Mutation	SNP	19 : 22270975 - 22270975 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	257	45
HNRNPM	4670	broad.mit.edu	37	19	8550903	8550903	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8550903C>T	ENST00000348943.3	+	15	1706	c.1474C>T	c.(1474-1476)Cgc>Tgc	p.R492C	HNRNPM_ENST00000325495.4_Missense_Mutation_p.R531C	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	531	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GAGCATGGAGCGCATGGTGCC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	51	50			NA	NA	19		NA											NA				8550903		2203	4297	6500	SO:0001583	missense			L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783	4670	4670		RNA binding motif (RRM) containing	5046	protein-coding gene	gene with protein product	CEA receptor	160994		NAGR1, HNRPM	NA	8441656, 7558047	Standard		NM_005968	NA	Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000348943.3:c.1474C>T	19.37:g.8550903C>T	ENSP00000325732:p.Arg492Cys	NA	Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	37	CCDS12204.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846507	0.51164	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159;ENST00000539473	T;T	0.27720	1.78;1.65	5.62	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.26666	0.0652	L	0.38953	1.18	0.80722	D	1	B;B;B;B	0.20671	0.014;0.006;0.004;0.047	B;B;B;B	0.09377	0.002;0.001;0.001;0.004	T	0.05209	-1.0899	10	0.87932	D	0	.	14.4855	0.67614	0.1483:0.8517:0.0:0.0	.	371;531;492;416	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	C	531;492;416;88	ENSP00000325376:R531C;ENSP00000325732:R492C	ENSP00000325376:R531C	R	+	1	0	HNRNPM	8456903	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.450000	0.66626	1.333000	0.45449	0.591000	0.81541	CGC	HNRNPM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460893.2		+	ENST00000348943.3	Missense_Mutation	SNP	19 : 8550903 - 8550903 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	619	107
FBXL17	64839	broad.mit.edu	37	5	107216798	107216798	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:107216798G>A	ENST00000359660.5	-	8	1623	c.711C>T	c.(709-711)gcC>gcT	p.A237A	FBXL17_ENST00000496714.1_Silent_p.A237A|FBXL17_ENST00000542267.1_Silent_p.A635A			Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	635										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		CAATCAGGGTGGCTCCTTGGT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													203	180	188			NA	NA	5		NA											NA				107216798		2202	4300	6502	SO:0001819	synonymous_variant			AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743	64839	64839		F-boxes / Leucine-rich repeats	13615	protein-coding gene	gene with protein product		609083	F-box only protein 13	FBXO13	NA		Standard		NM_001163315	NA	Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000359660.5:c.711C>T	5.37:g.107216798G>A		NA	A1A4E3	37																																																																																				FBXL17-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000357305.3		-	ENST00000359660.5	Silent	SNP	5 : 107216798 - 107216798 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	722	57
NCK2	8440	broad.mit.edu	37	2	106471526	106471526	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106471526G>A	ENST00000233154.4	+	3	449	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	NCK2_ENST00000522586.1_Missense_Mutation_p.E3K|AC009505.2_ENST00000427050.2_RNA|NCK2_ENST00000393349.2_Missense_Mutation_p.E3K|NCK2_ENST00000451463.2_Missense_Mutation_p.E3K|AC009505.2_ENST00000596418.1_RNA	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	3	SH3 1.				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						AAAGATGACAGAAGAAGTTAT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	80	80			NA	NA	2		NA											NA				106471526		2203	4300	6503	SO:0001583	missense			AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051	8440	8440		SH2 domain containing	7665	protein-coding gene	gene with protein product		604930			NA	9737977, 16752908	Standard	NM_003581	NM_001004720	NA	Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.7G>A	2.37:g.106471526G>A	ENSP00000233154:p.Glu3Lys	NA	D3DVK1|Q9BWN9|Q9UIC3	37	CCDS33266.1	.	.	.	.	.	.	.	.	.	.	G	35	5.565474	0.96527	.	.	ENSG00000071051	ENST00000233154;ENST00000451463;ENST00000393348;ENST00000522586;ENST00000425756;ENST00000393349	T;T;T;T;T;T	0.73152	-0.72;1.72;1.47;1.72;1.46;-0.72	5.84	5.84	0.93424	Src homology-3 domain (2);	0.000000	0.85682	D	0.000000	T	0.77631	0.4159	L	0.35854	1.095	0.80722	D	1	D;P	0.67145	0.996;0.944	P;P	0.60286	0.872;0.581	T	0.78897	-0.2023	10	0.87932	D	0	.	20.1381	0.98040	0.0:0.0:1.0:0.0	.	3;3	E7ERP6;O43639	.;NCK2_HUMAN	K	3	ENSP00000233154:E3K;ENSP00000410428:E3K;ENSP00000377017:E3K;ENSP00000431109:E3K;ENSP00000408040:E3K;ENSP00000377018:E3K	ENSP00000233154:E3K	E	+	1	0	NCK2	105837958	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.433000	0.97501	2.763000	0.94921	0.650000	0.86243	GAA	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329634.1		+	ENST00000233154.4	Missense_Mutation	SNP	2 : 106471526 - 106471526 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	254	35
TTN	7273	broad.mit.edu	37	2	179640548	179640548	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179640548C>T	ENST00000589042.1	-	28	6267	c.6043G>A	c.(6043-6045)Gct>Act	p.A2015T	TTN_ENST00000360870.5_Missense_Mutation_p.A2015T|TTN_ENST00000460472.2_Missense_Mutation_p.A1969T|TTN_ENST00000342992.6_Missense_Mutation_p.A2015T|TTN_ENST00000591111.1_Missense_Mutation_p.A2015T|TTN_ENST00000342175.6_Missense_Mutation_p.A1969T|TTN_ENST00000359218.5_Missense_Mutation_p.A1969T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1777							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCTCCACAGCGGTAATGGCT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	135	133			NA	NA	2		NA											NA				179640548		2203	4300	6503	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.6043G>A	2.37:g.179640548C>T	ENSP00000467141:p.Ala2015Thr	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.907980	0.33721	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.64260	-0.09;0.15;0.13;0.12;0.29	5.12	5.12	0.69794	Ribonuclease H-like (1);	.	.	.	.	T	0.71676	0.3368	L	0.32530	0.975	0.33807	D	0.627368	D;D;D;D;D	0.89917	0.994;0.994;0.994;0.994;1.0	P;P;P;P;D	0.71414	0.603;0.603;0.603;0.603;0.973	T	0.79699	-0.1694	9	0.87932	D	0	.	18.5589	0.91094	0.0:1.0:0.0:0.0	.	1969;1969;1969;2015;2015	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	T	2015;1969;1969;1969;1969;2015	ENSP00000343764:A2015T;ENSP00000434586:A1969T;ENSP00000340554:A1969T;ENSP00000352154:A1969T;ENSP00000354117:A2015T	ENSP00000340554:A1969T	A	-	1	0	TTN	179348793	1.000000	0.71417	0.991000	0.47740	0.946000	0.59487	5.837000	0.69381	2.387000	0.81309	0.609000	0.83330	GCT	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179640548 - 179640548 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1011	161
HEATR3	55027	broad.mit.edu	37	16	50138873	50138873	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50138873C>A	ENST00000299192.7	+	15	2135	c.1944C>A	c.(1942-1944)aaC>aaA	p.N648K	RP11-429P3.5_ENST00000566770.1_RNA|HEATR3_ENST00000285767.4_Missense_Mutation_p.N562K	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	648							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GGAGAGGTAACTATAGCACAG	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	124	122			NA	NA	16		NA											NA				50138873		2198	4300	6498	SO:0001583	missense			BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393	55027	55027			26087	protein-coding gene	gene with protein product		614951			NA	12477932	Standard	NM_182922	XM_005256013	NA	Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.1944C>A	16.37:g.50138873C>A	ENSP00000299192:p.Asn648Lys	NA	A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	37	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	C	0.975	-0.698907	0.03279	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.38560	1.13;1.19	5.88	-2.38	0.06622	.	0.142339	0.64402	N	0.000009	T	0.06462	0.0166	N	0.00237	-1.79	0.23107	N	0.998284	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28964	-1.0027	10	0.02654	T	1	.	2.3785	0.04348	0.5172:0.2099:0.1745:0.0985	.	562;648	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	K	562;648	ENSP00000285767:N562K;ENSP00000299192:N648K	ENSP00000285767:N562K	N	+	3	2	HEATR3	48696374	0.997000	0.39634	0.041000	0.18516	0.791000	0.44710	0.605000	0.24179	-0.777000	0.04572	-1.103000	0.02113	AAC	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256880.2		+	ENST00000299192.7	Missense_Mutation	SNP	16 : 50138873 - 50138873 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	439	37
PARP1	142	broad.mit.edu	37	1	226589969	226589969	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226589969G>A	ENST00000366794.5	-	2	375	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	PARP1_ENST00000366792.1_Missense_Mutation_p.R78W|PARP1_ENST00000366791.5_Missense_Mutation_p.R78W|PARP1_ENST00000366790.3_Missense_Mutation_p.R78W	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	78					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TCATCCCACCGAAGCTCAGAG	0.567		NA						Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	86	91			NA	NA	1		NA											NA				226589969		2203	4300	6503	SO:0001583	missense			BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	142	142	2.4.2.30	Poly (ADP-ribose) polymerases	270	protein-coding gene	gene with protein product		173870	ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase), poly (ADP-ribose) polymerase family, member 1	PPOL, ADPRT	NA	10964595	Standard	NM_001618	NM_001618	NA	Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.232C>T	1.37:g.226589969G>A	ENSP00000355759:p.Arg78Trp	NA	B1ANJ4|Q8IUZ9	37	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333371	0.81801	.	.	ENSG00000143799	ENST00000432338;ENST00000366794;ENST00000366792;ENST00000366791;ENST00000366790	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.2	3.25	0.37280	Zinc finger, PARP-type (3);	0.000000	0.85682	D	0.000000	T	0.71013	0.3290	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80450	-0.1377	10	0.87932	D	0	.	14.6497	0.68786	0.0:0.0:0.797:0.203	.	78	P09874	PARP1_HUMAN	W	78	ENSP00000355759:R78W;ENSP00000355757:R78W;ENSP00000355756:R78W;ENSP00000355755:R78W	ENSP00000355755:R78W	R	-	1	2	PARP1	224656592	1.000000	0.71417	0.556000	0.28293	0.987000	0.75469	4.067000	0.57527	0.486000	0.27676	0.650000	0.86243	CGG	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091519.1		-	ENST00000366794.5	Missense_Mutation	SNP	1 : 226589969 - 226589969 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	481	74
CATSPER1	117144	broad.mit.edu	37	11	65793392	65793392	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65793392T>G	ENST00000312106.5	-	1	596	c.459A>C	c.(457-459)caA>caC	p.Q153H		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	153	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CACCGAGATATTGGGGTCTGC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	53	56			NA	NA	11		NA											NA				65793392		2201	4296	6497	SO:0001583	missense			AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294	117144	117144		Voltage-gated ion channels / Cation channels, sperm associated	17116	protein-coding gene	gene with protein product		606389			NA	11675491, 11595941, 16382101	Standard	NM_053054	NM_053054	NA	Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.459A>C	11.37:g.65793392T>G	ENSP00000309052:p.Gln153His	NA	Q96P76	37	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	T	3.680	-0.065727	0.07273	.	.	ENSG00000175294	ENST00000312106	D	0.96774	-4.12	3.04	-4.23	0.03789	.	.	.	.	.	T	0.81631	0.4863	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.76647	-0.2882	9	0.13470	T	0.59	.	1.3325	0.02138	0.3008:0.1408:0.4097:0.1487	.	153	Q8NEC5	CTSR1_HUMAN	H	153	ENSP00000309052:Q153H	ENSP00000309052:Q153H	Q	-	3	2	CATSPER1	65549968	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.741000	0.04855	-1.075000	0.03129	-0.940000	0.02684	CAA	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391055.1		-	ENST00000312106.5	Missense_Mutation	SNP	11 : 65793392 - 65793392 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	58
KCNC2	3747	broad.mit.edu	37	12	75444879	75444879	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75444879A>C	ENST00000393288.2	-	3	1153	c.906T>G	c.(904-906)gtT>gtG	p.V302V	KCNC2_ENST00000548513.1_Silent_p.V302V|KCNC2_ENST00000540018.1_Silent_p.V302V|KCNC2_ENST00000298972.1_Silent_p.V302V|KCNC2_ENST00000341669.3_Silent_p.V302V|KCNC2_ENST00000549446.1_Silent_p.V302V|KCNC2_ENST00000350228.2_Silent_p.V302V|KCNC2_ENST00000550433.1_Silent_p.V302V			Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	302					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						TGGGTGAAAAAACAATACGGA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	106	108			NA	NA	12		NA											NA				75444879		2203	4300	6503	SO:0001819	synonymous_variant			AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05					3747	3747		Potassium channels, Voltage-gated ion channels / Potassium channels	6234	protein-coding gene	gene with protein product		176256			NA	8111118, 16382104	Standard	NM_153748	NM_139136	NA	Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000393288.2:c.906T>G	12.37:g.75444879A>C		NA	Q4LE77|Q86W09|Q8N1V9|Q96PR0	37	CCDS58257.1																																																																																			KCNC2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405584.1		-	ENST00000393288.2	Silent	SNP	12 : 75444879 - 75444879 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	518	15
HEY2	23493	broad.mit.edu	37	6	126080535	126080535	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:126080535G>A	ENST00000368364.3	+	5	798	c.601G>A	c.(601-603)Ggc>Agc	p.G201S	HEY2_ENST00000368365.1_Missense_Mutation_p.G155S	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	201					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CCAGCCCAACGGCCTCCATGC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	123	122			NA	NA	6		NA											NA				126080535		2203	4300	6503	SO:0001583	missense			AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547	23493	23493		Basic helix-loop-helix proteins	4881	protein-coding gene	gene with protein product		604674	hairy/enhancer-of-split related with YRPW motif 2		NA	10415358	Standard		NM_012259	NA	Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.601G>A	6.37:g.126080535G>A	ENSP00000357348:p.Gly201Ser	NA		37	CCDS5131.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.682158	0.29872	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	T;T	0.57752	0.39;0.38	5.59	5.59	0.84812	.	0.710025	0.13163	N	0.408932	T	0.51975	0.1706	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.39800	-0.9596	10	0.07175	T	0.84	-17.0872	19.5876	0.95496	0.0:0.0:1.0:0.0	.	201	Q9UBP5	HEY2_HUMAN	S	155;201	ENSP00000357349:G155S;ENSP00000357348:G201S	ENSP00000357348:G201S	G	+	1	0	HEY2	126122228	.	.	0.998000	0.56505	0.608000	0.37181	.	.	2.625000	0.88918	0.561000	0.74099	GGC	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042077.1		+	ENST00000368364.3	Missense_Mutation	SNP	6 : 126080535 - 126080535 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1715	279
NPC1	4864	broad.mit.edu	37	18	21134834	21134834	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21134834T>C	ENST00000269228.5	-	9	1995	c.1441A>G	c.(1441-1443)Att>Gtt	p.I481V	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.I231V	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	481					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ACACTCAAAATGGTGCAGTTC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	129	139			NA	NA	18		NA											NA				21134834		2203	4300	6503	SO:0001583	missense			AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458	4864	4864			7897	protein-coding gene	gene with protein product		607623			NA	8446622	Standard	NM_000271	NM_000271	NA	Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.1441A>G	18.37:g.21134834T>C	ENSP00000269228:p.Ile481Val	NA	Q9P130	37	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	T	16.29	3.081134	0.55753	.	.	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.81908	-1.55;-1.55	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.77418	0.4127	L	0.41573	1.285	0.41445	D	0.987945	B;B	0.31790	0.224;0.34	B;B	0.37091	0.07;0.241	T	0.72750	-0.4199	10	0.11485	T	0.65	-24.1019	14.7895	0.69830	0.0:0.0:0.0:1.0	.	492;481	Q59GR1;O15118	.;NPC1_HUMAN	V	481;231;326	ENSP00000269228:I481V;ENSP00000408606:I231V	ENSP00000269228:I481V	I	-	1	0	NPC1	19388832	1.000000	0.71417	0.980000	0.43619	0.981000	0.71138	4.056000	0.57448	1.945000	0.56424	0.533000	0.62120	ATT	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254823.2		-	ENST00000269228.5	Missense_Mutation	SNP	18 : 21134834 - 21134834 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	260	50
HHEX	3087	broad.mit.edu	37	10	94452255	94452255	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:94452255G>A	ENST00000472590.2	+	0	1145				HHEX_ENST00000492654.2_5'UTR|HHEX_ENST00000282728.5_Silent_p.P164P			Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	NA					anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						ATCTCTCTCCGCCCGAGAGGA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	40	39			NA	NA	10		NA											NA				94452255		2203	4300	6503	SO:0001623	5_prime_UTR_variant			Z21533	CCDS7423.1	10q23.33	2011-06-20	2007-02-15		ENSG00000152804	ENSG00000152804	3087	3087		Homeoboxes / ANTP class : NKL subclass	4901	protein-coding gene	gene with protein product		604420		PRHX	NA	8096636, 8103988	Standard		NM_002729	NA	Approved	HEX, HOX11L-PEN	uc001kid.3	Q03014	OTTHUMG00000018762	ENST00000472590.2:c.-25G>A	10.37:g.94452255G>A		NA	Q96CE9	37																																																																																				HHEX-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000049403.2		+	ENST00000472590.2	5'UTR	SNP	10 : 94452255 - 94452255 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	278	58
EXTL2	2135	broad.mit.edu	37	1	101342387	101342387	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101342387C>A	ENST00000370114.3	-	4	1903	c.467G>T	c.(466-468)aGc>aTc	p.S156I	EXTL2_ENST00000535414.1_Missense_Mutation_p.S143I|EXTL2_ENST00000370113.3_Missense_Mutation_p.S156I	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	156					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		GTCTGGGGTGCTGATGAGTGT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	136	140			NA	NA	1		NA											NA				101342387		2203	4299	6502	SO:0001583	missense			U76189	CCDS775.1, CCDS72831.1	1p21	2013-03-01	2013-03-01		ENSG00000162694	ENSG00000162694	2135	2135	2.4.1.223	Exostosin glycosyltransferase family	3516	protein-coding gene	gene with protein product	alpha-1,4-N-acteylhexosaminyltransferase	602411	exostoses (multiple)-like 2		NA	9450183, 15831490	Standard	NM_001439	NM_001439	NA	Approved		uc001dtk.2	Q9UBQ6	OTTHUMG00000011814	ENST00000370114.3:c.467G>T	1.37:g.101342387C>A	ENSP00000359132:p.Ser156Ile	NA	B2R795|D3DT60	37	CCDS775.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351157	0.82132	.	.	ENSG00000162694	ENST00000370114;ENST00000370113;ENST00000535414;ENST00000450240	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.85	5.85	0.93711	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.89051	0.6605	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88495	0.3078	10	0.51188	T	0.08	-29.5482	20.1572	0.98116	0.0:1.0:0.0:0.0	.	155;156	Q8N8F1;Q9UBQ6	.;EXTL2_HUMAN	I	156;156;143;164	ENSP00000359132:S156I;ENSP00000359131:S156I;ENSP00000444385:S143I;ENSP00000403363:S164I	ENSP00000359131:S156I	S	-	2	0	EXTL2	101114975	1.000000	0.71417	0.977000	0.42913	0.534000	0.34807	7.388000	0.79795	2.762000	0.94881	0.650000	0.86243	AGC	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032705.1		-	ENST00000370114.3	Missense_Mutation	SNP	1 : 101342387 - 101342387 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	418	76
SPG20	23111	broad.mit.edu	37	13	36878678	36878678	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36878678T>C	ENST00000451493.1	-	9	2042	c.1825A>G	c.(1825-1827)Atc>Gtc	p.I609V	SPG20_ENST00000494062.2_Missense_Mutation_p.I609V|SPG20_ENST00000355182.4_Missense_Mutation_p.I609V|SPG20_ENST00000438666.2_Missense_Mutation_p.I609V	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	609					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		ATTGCTTTGATACCAATGTTG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													235	203	214			NA	NA	13		NA											NA				36878678		2203	4300	6503	SO:0001583	missense			AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104	23111	23111			18514	protein-coding gene	gene with protein product	spartin	607111			NA	6022528, 12134148	Standard		NM_001142294	NA	Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.1825A>G	13.37:g.36878678T>C	ENSP00000414147:p.Ile609Val	NA	O60349|Q86Y67|Q9H1T2|Q9H1T3	37	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	T	15.24	2.776230	0.49786	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.88586	-2.4;-2.4;-2.4	5.16	3.97	0.46021	Senescence/spartin-associated (1);	0.109916	0.64402	N	0.000010	D	0.85570	0.5727	L	0.42581	1.335	0.38750	D	0.954083	P;P	0.49447	0.924;0.924	P;P	0.50617	0.646;0.646	T	0.82619	-0.0368	10	0.02654	T	1	-6.3075	10.8538	0.46786	0.0:0.0747:0.0:0.9253	.	609;609	A8K6Q9;Q8N0X7	.;SPG20_HUMAN	V	609	ENSP00000406061:I609V;ENSP00000347314:I609V;ENSP00000414147:I609V	ENSP00000347314:I609V	I	-	1	0	SPG20	35776678	0.995000	0.38212	0.872000	0.34217	0.485000	0.33311	1.896000	0.39789	0.813000	0.34350	0.482000	0.46254	ATC	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044494.2		-	ENST00000451493.1	Missense_Mutation	SNP	13 : 36878678 - 36878678 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	550	69
MEI1	150365	broad.mit.edu	37	22	42128307	42128307	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42128307G>A	ENST00000401548.3	+	10	1195	c.1155G>A	c.(1153-1155)ctG>ctA	p.L385L	MEI1_ENST00000540833.1_Silent_p.L125L|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000300398.4_5'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	385							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACATAGAGCTGCACAAGCAGG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	69	67			NA	NA	22		NA											NA				42128307		2076	4208	6284	SO:0001819	synonymous_variant			AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077	150365	150365			28613	protein-coding gene	gene with protein product	spermatogenesis associated 38	608797			NA	16683055	Standard	NM_152513	XM_006724154	NA	Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.1155G>A	22.37:g.42128307G>A		NA	B7Z745|Q1XAP1|Q1XAP2|Q8IYJ5|Q8N5K5|Q8N9H3|Q8TC68	37	CCDS46718.1																																																																																			MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000074937.3		+	ENST00000401548.3	Silent	SNP	22 : 42128307 - 42128307 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	103	28
KIAA1462	57608	broad.mit.edu	37	10	30316881	30316881	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30316881C>T	ENST00000375377.1	-	3	2297	c.2196G>A	c.(2194-2196)acG>acA	p.T732T		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	732										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ATGCTGTGTGCGTCTGAGCTT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	58	58			NA	NA	10		NA											NA				30316881		2118	4244	6362	SO:0001819	synonymous_variant			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757	57608	57608			29283	protein-coding gene	gene with protein product	junctional protein associated with coronary artery disease	614398			NA	10819331, 21884682	Standard	NM_020848	NM_020848	NA	Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2196G>A	10.37:g.30316881C>T		NA	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	37	CCDS41500.1																																																																																			KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047409.1		-	ENST00000375377.1	Silent	SNP	10 : 30316881 - 30316881 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	290	18
UTRN	7402	broad.mit.edu	37	6	144758755	144758755	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144758755G>A	ENST00000367545.3	+	10	1114	c.1114G>A	c.(1114-1116)Gca>Aca	p.A372T		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	372	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CGTCCTGCAGGCAGGCAACCA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	87	90			NA	NA	6		NA											NA				144758755		2203	4300	6503	SO:0001583	missense			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818	7402	7402			12635	protein-coding gene	gene with protein product		128240	utrophin (homologous to dystrophin)	DMDL	NA	1426262	Standard		NM_007124	NA	Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.1114G>A	6.37:g.144758755G>A	ENSP00000356515:p.Ala372Thr	NA	Q5SZ57	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.019322	0.93462	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.47528	0.84	5.45	5.45	0.79879	.	0.000000	0.49305	D	0.000144	T	0.61615	0.2361	M	0.69185	2.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.56944	-0.7895	10	0.34782	T	0.22	.	19.2915	0.94102	0.0:0.0:1.0:0.0	.	372	P46939	UTRO_HUMAN	T	372	ENSP00000356515:A372T	ENSP00000356499:A372T	A	+	1	0	UTRN	144800448	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	9.869000	0.99810	2.562000	0.86427	0.655000	0.94253	GCA	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042551.1		+	ENST00000367545.3	Missense_Mutation	SNP	6 : 144758755 - 144758755 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	363	49
SATB1	6304	broad.mit.edu	37	3	18462353	18462353	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:18462353T>C	ENST00000417717.2	-	2	1077	c.107A>G	c.(106-108)aAc>aGc	p.N36S	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000338745.6_Missense_Mutation_p.N36S|SATB1_ENST00000493952.2_Missense_Mutation_p.N36S|SATB1_ENST00000454909.2_Missense_Mutation_p.N36S	NM_001195470.1	NP_001182399.1	Q01826	SATB1_HUMAN	SATB homeobox 1	36					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CGGGCTCCCGTTCTGCTCCAG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	140	138			NA	NA	3		NA											NA				18462353		2203	4300	6503	SO:0001583	missense				CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568	6304	6304		Homeoboxes / CUT class	10541	protein-coding gene	gene with protein product		602075	special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)		NA	1505028	Standard	NM_001131010	NM_002971	NA	Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000417717.2:c.107A>G	3.37:g.18462353T>C	ENSP00000399518:p.Asn36Ser	NA	B3KXF1|C9JTR6|Q59EQ0	37	CCDS56242.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.699728	0.88924	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717;ENST00000440737;ENST00000452260;ENST00000415069;ENST00000457005;ENST00000414509;ENST00000444341	T;T;T;T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.74	5.74	0.90152	.	0.044474	0.85682	D	0.000000	T	0.77532	0.4144	L	0.50333	1.59	0.58432	D	0.999999	D;D	0.71674	0.998;0.997	D;D	0.69142	0.962;0.917	T	0.79708	-0.1690	10	0.87932	D	0	-19.257	16.0363	0.80631	0.0:0.0:0.0:1.0	.	36;36	Q01826-2;Q01826	.;SATB1_HUMAN	S	36	ENSP00000341024:N36S;ENSP00000399708:N36S;ENSP00000399518:N36S;ENSP00000402982:N36S;ENSP00000406727:N36S;ENSP00000390529:N36S;ENSP00000398072:N36S;ENSP00000408871:N36S;ENSP00000391344:N36S	ENSP00000341024:N36S	N	-	2	0	SATB1	18437357	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.698000	0.84413	2.193000	0.70182	0.460000	0.39030	AAC	SATB1-004	KNOWN	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339360.2		-	ENST00000417717.2	Missense_Mutation	SNP	3 : 18462353 - 18462353 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	869	155
KIF21B	23046	broad.mit.edu	37	1	200959456	200959456	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200959456C>A	ENST00000332129.2	-	20	3156	c.2840G>T	c.(2839-2841)aGg>aTg	p.R947M	KIF21B_ENST00000360529.5_Missense_Mutation_p.R947M|KIF21B_ENST00000461742.2_Missense_Mutation_p.R947M|KIF21B_ENST00000422435.2_Missense_Mutation_p.R947M	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	947					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CAGCTCCTCCCTTTTCTGGGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	19	18			NA	NA	1		NA											NA				200959456		2203	4300	6503	SO:0001583	missense			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852	23046	23046		Kinesins, WD repeat domain containing	29442	protein-coding gene	gene with protein product		608322			NA	9455484	Standard	XM_371332	NM_001252100	NA	Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000332129.2:c.2840G>T	1.37:g.200959456C>A	ENSP00000328494:p.Arg947Met	NA	Q5T4J3	37	CCDS30965.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053658	0.93793	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	D;D;D;D	0.89746	-2.22;-2.52;-2.56;-2.25	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.93327	0.7873	M	0.81497	2.545	0.80722	D	1	D;D;D;D	0.59767	0.975;0.986;0.975;0.985	P;P;P;P	0.55161	0.466;0.621;0.594;0.77	D	0.94253	0.7495	10	0.87932	D	0	.	18.7361	0.91755	0.0:1.0:0.0:0.0	.	947;947;947;947	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	M	947	ENSP00000328494:R947M;ENSP00000353724:R947M;ENSP00000433808:R947M;ENSP00000411831:R947M	ENSP00000328494:R947M	R	-	2	0	KIF21B	199226079	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.973000	0.56845	2.423000	0.82170	0.655000	0.94253	AGG	KIF21B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087055.2		-	ENST00000332129.2	Missense_Mutation	SNP	1 : 200959456 - 200959456 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	115	28
FRY	10129	broad.mit.edu	37	13	32768363	32768363	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32768363C>T	ENST00000380250.3	+	29	4171	c.3675C>T	c.(3673-3675)gaC>gaT	p.D1225D		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GGGCAATTGACCGATGCTACA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	126	128			NA	NA	13		NA											NA				32768363		1895	4125	6020	SO:0001819	synonymous_variant			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910	10129	10129			20367	protein-coding gene	gene with protein product		614818	chromosome 13 open reading frame 14	C13orf14	NA	14702039, 8812419	Standard	NM_023037	NM_023037	NA	Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.3675C>T	13.37:g.32768363C>T		NA	Q9Y3N6	37	CCDS41875.1																																																																																			FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044405.1		+	ENST00000380250.3	Silent	SNP	13 : 32768363 - 32768363 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	413	72
KCNS3	3790	broad.mit.edu	37	2	18113720	18113720	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:18113720C>T	ENST00000403915.1	+	3	1896	c.1445C>T	c.(1444-1446)aCc>aTc	p.T482I	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.T482I	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	482					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATTTGTAACACCACCTCCTTG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	80	81			NA	NA	2		NA											NA				18113720		2203	4300	6503	SO:0001583	missense			AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745	3790	3790		Potassium channels, Voltage-gated ion channels / Potassium channels	6302	protein-coding gene	gene with protein product		603888			NA	10484328, 16382104	Standard	NM_002252	NM_002252	NA	Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.1445C>T	2.37:g.18113720C>T	ENSP00000385968:p.Thr482Ile	NA	D6W520|O43651|Q96B56	37	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	C	2.457	-0.325134	0.05350	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	D;D	0.97041	-4.22;-4.22	5.91	1.86	0.25419	.	1.066720	0.07169	N	0.852063	D	0.94456	0.8216	L	0.51422	1.61	0.09310	N	1	B	0.16802	0.019	B	0.09377	0.004	D	0.85296	0.1070	10	0.38643	T	0.18	.	6.756	0.23514	0.0:0.7048:0.1209:0.1743	.	482	Q9BQ31	KCNS3_HUMAN	I	482	ENSP00000385968:T482I;ENSP00000305824:T482I	ENSP00000305824:T482I	T	+	2	0	KCNS3	17977201	0.000000	0.05858	0.000000	0.03702	0.332000	0.28634	0.290000	0.18975	0.052000	0.16007	0.655000	0.94253	ACC	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323808.1		+	ENST00000403915.1	Missense_Mutation	SNP	2 : 18113720 - 18113720 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	450	126
PZP	5858	broad.mit.edu	37	12	9317762	9317762	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9317762G>T	ENST00000261336.2	-	19	2488	c.2460C>A	c.(2458-2460)gtC>gtA	p.V820V	PZP_ENST00000381997.2_Silent_p.V689V|PZP_ENST00000539983.1_5'UTR	NM_002864.2	NP_002855.2			pregnancy-zone protein	NA										breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GGTAGTTTAGGACCGTGGCCT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(125;1402 1695 4685 34487 38571)							NA				0													127	121	123			NA	NA	12		NA											NA				9317762		2203	4300	6503	SO:0001819	synonymous_variant			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838	5858	5858			9750	protein-coding gene	gene with protein product		176420			NA		Standard	NM_002864	NM_002864	NA	Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2460C>A	12.37:g.9317762G>T		NA		37	CCDS8600.1																																																																																			PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337624.1		-	ENST00000261336.2	Silent	SNP	12 : 9317762 - 9317762 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	455	69
OR51F1	256892	broad.mit.edu	37	11	4790217	4790217	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4790217T>C	ENST00000343430.3	-	1	930	c.931A>G	c.(931-933)Aca>Gca	p.T311A	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000380383.1_Missense_Mutation_p.T318A	NM_001004752.1	NP_001004752.1	A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	311						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		GTTCATTTTGTAAGCAGCAGA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	83	84			NA	NA	11		NA											NA				4790217		2201	4298	6499	SO:0001583	missense			BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069	256892	256892		GPCR / Class A : Olfactory receptors	15196	protein-coding gene	gene with protein product				OR51F1P	NA		Standard	NM_001004752	NM_001004752	NA	Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000343430.3:c.931A>G	11.37:g.4790217T>C	ENSP00000345163:p.Thr311Ala	NA		37	CCDS31359.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.436733	0.00182	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.00002	9.85;9.85	5.2	-7.56	0.01322	.	1.837620	0.02621	N	0.103194	T	0.00039	0.0001	N	0.25647	0.755	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.34825	-0.9813	10	0.07813	T	0.8	.	1.1005	0.01683	0.3628:0.2485:0.0937:0.295	.	318	A6NGY5	O51F1_HUMAN	A	311;318	ENSP00000345163:T311A;ENSP00000369744:T318A	ENSP00000345163:T311A	T	-	1	0	OR51F1	4746793	0.001000	0.12720	0.000000	0.03702	0.025000	0.11179	-0.691000	0.05133	-1.941000	0.01042	-1.255000	0.01485	ACA	OR51F1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000142176.2		-	ENST00000343430.3	Missense_Mutation	SNP	11 : 4790217 - 4790217 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	353	69
COMP	1311	broad.mit.edu	37	19	18901411	18901411	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18901411G>A	ENST00000542601.2	-	2	467	c.78C>T	c.(76-78)atC>atT	p.I26I	COMP_ENST00000222271.2_Silent_p.I59I|COMP_ENST00000425807.1_Silent_p.I59I			P49747	COMP_HUMAN	cartilage oligomeric matrix protein	59	COMP N-terminal.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding	p.I59I(1)		breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TCAGGAACGTGATCTCCCTGA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	kidney(1)											181	189	186			NA	NA	19		NA											NA				18901411		2203	4300	6503	SO:0001819	synonymous_variant			L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664	1311	1311			2227	protein-coding gene	gene with protein product	thrombospondin-5	600310	cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)	PSACH, EDM1, EPD1	NA	7713493, 8307576	Standard	NM_000095	NM_000095	NA	Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000542601.2:c.78C>T	19.37:g.18901411G>A		NA	O14592|Q16388|Q16389|Q2NL86|Q8N4T2	37																																																																																				COMP-007	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000403456.1		-	ENST00000542601.2	Silent	SNP	19 : 18901411 - 18901411 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1838	293
C15orf26	161502	broad.mit.edu	37	15	81427610	81427610	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81427610G>T	ENST00000286732.4	+	2	152		c.e2-1			NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	NA										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						TTTCTGTTTAGGAGCTCATGA	0.343		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	15		NA											NA				81427610		1793	4067	5860	SO:0001630	splice_region_variant			AK095934	CCDS42068.1	15q25.1	2012-09-10			ENSG00000156206	ENSG00000156206	161502	161502			26782	protein-coding gene	gene with protein product					NA	14702039	Standard	NM_173528	NM_173528	NA	Approved	FLJ38615	uc002bgb.3	Q6P656	OTTHUMG00000172263	ENST00000286732.4:c.70-1G>T	15.37:g.81427610G>T		NA	Q8N906	37	CCDS42068.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026856	0.35797	.	.	ENSG00000156206	ENST00000286732	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9642	0.86281	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C15orf26	79214665	1.000000	0.71417	0.995000	0.50966	0.416000	0.31233	5.393000	0.66279	2.257000	0.74773	0.591000	0.81541	.	C15orf26-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417587.1	Intron	+	ENST00000286732.4	Splice_Site	SNP	15 : 81427610 - 81427610 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	287	40
HEATR5B	54497	broad.mit.edu	37	2	37286131	37286131	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37286131C>T	ENST00000233099.5	-	13	1945		c.e13-1		HEATR5B_ENST00000354531.2_Splice_Site	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	NA							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CTCCTCATGGCTAGATAAAAT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	75	76			NA	NA	2		NA											NA				37286131		2203	4300	6503	SO:0001630	splice_region_variant			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869	54497	54497			29273	protein-coding gene	gene with protein product					NA	10718198	Standard	NM_019024	XM_005264379	NA	Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.1850-1G>A	2.37:g.37286131C>T		NA	B5MDU8|Q7Z3B2|Q9NVL7	37	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304176	0.81136	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	.	.	.	6.13	6.13	0.99165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8401	0.99726	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HEATR5B	37139635	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	5.979000	0.70508	2.932000	0.99384	0.644000	0.83932	.	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325492.1	Intron	-	ENST00000233099.5	Splice_Site	SNP	2 : 37286131 - 37286131 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	246	30
MYO15A	51168	broad.mit.edu	37	17	18025324	18025324	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18025324G>T	ENST00000205890.5	+	2	3548	c.3210G>T	c.(3208-3210)caG>caT	p.Q1070H		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1070	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGTGTGACCAGACCAGGGCCA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	91	89			NA	NA	17		NA											NA				18025324		1998	4164	6162	SO:0001583	missense			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536	51168	51168		Myosins / Myosin superfamily : Class XV	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15	NA	9603736	Standard	NM_016239	NM_016239	NA	Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.3210G>T	17.37:g.18025324G>T	ENSP00000205890:p.Gln1070His	NA		37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	g	9.487	1.099688	0.20552	.	.	ENSG00000091536	ENST00000205890	D	0.88124	-2.34	5.08	1.67	0.24075	.	.	.	.	.	T	0.74253	0.3692	N	0.19112	0.55	0.09310	N	1	B	0.33379	0.41	B	0.31751	0.135	T	0.63651	-0.6589	9	0.37606	T	0.19	.	4.9784	0.14153	0.1983:0.1751:0.6266:0.0	.	1070	Q9UKN7	MYO15_HUMAN	H	1070	ENSP00000205890:Q1070H	ENSP00000205890:Q1070H	Q	+	3	2	MYO15A	17966049	0.012000	0.17670	0.006000	0.13384	0.156000	0.22039	0.746000	0.26275	1.114000	0.41781	0.561000	0.74099	CAG	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132048.1		+	ENST00000205890.5	Missense_Mutation	SNP	17 : 18025324 - 18025324 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1006	130
ZFP57	346171	broad.mit.edu	37	6	29641220	29641220	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29641220C>T	ENST00000376883.1	-	6	1019	c.608G>A	c.(607-609)cGc>cAc	p.R203H	ZFP57_ENST00000488757.1_Missense_Mutation_p.R223H|ZFP57_ENST00000376881.3_Missense_Mutation_p.R203H			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	139					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						AAGATGCATGCGTCTGTGATA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	101	97			NA	NA	6		NA											NA				29641220		1356	2606	3962	SO:0001583	missense			AL050328	CCDS43436.1, CCDS43436.2	6p22.1	2013-01-08	2012-11-27	2005-07-20	ENSG00000204644	ENSG00000204644	346171	346171		Zinc fingers, C2H2-type, -	18791	protein-coding gene	gene with protein product		612192	chromosome 6 open reading frame 40, zinc finger protein 57 homolog (mouse)	C6orf40	NA		Standard	XM_294093	NM_001109809	NA	Approved	ZNF698, bA145L22, bA145L22.2	uc011dlw.2	Q9NU63	OTTHUMG00000031158	ENST00000376883.1:c.608G>A	6.37:g.29641220C>T	ENSP00000366080:p.Arg203His	NA	B0S894|B0V254|B2RXJ7|Q5SSB1	37		.	.	.	.	.	.	.	.	.	.	C	5.368	0.253145	0.10185	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.25749	1.78;1.78;1.78	4.4	2.54	0.30619	.	0.531595	0.15970	N	0.235819	T	0.12178	0.0296	M	0.82517	2.595	0.09310	N	1	P;P	0.50617	0.937;0.937	B;B	0.34346	0.18;0.18	T	0.10989	-1.0606	10	0.87932	D	0	-10.225	7.4085	0.27004	0.0:0.723:0.1784:0.0986	.	223;203	Q9NU63-3;Q9NU63-2	.;.	H	223;203;203	ENSP00000418259:R223H;ENSP00000366078:R203H;ENSP00000366080:R203H	ENSP00000366078:R203H	R	-	2	0	ZFP57	29749199	0.000000	0.05858	0.016000	0.15963	0.029000	0.11900	0.106000	0.15354	0.563000	0.29222	0.650000	0.86243	CGC	ZFP57-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000132460.2		-	ENST00000376883.1	Missense_Mutation	SNP	6 : 29641220 - 29641220 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	444	86
ZFP64	55734	broad.mit.edu	37	20	50701282	50701282	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50701282G>T	ENST00000361387.2	-	9	1812	c.1752C>A	c.(1750-1752)acC>acA	p.T584T	ZFP64_ENST00000371523.4_Silent_p.T365T|ZFP64_ENST00000371518.2_Intron	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						AGGCGCCGCAGGTCTCACAGC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	48	52			NA	NA	20		NA											NA				50701282		2203	4300	6503	SO:0001819	synonymous_variant			AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256	55734	55734		Zinc fingers, C2H2-type	15940	protein-coding gene	gene with protein product			zinc finger protein 338, zinc finger protein 64 homolog (mouse), zinc finger protein 64	ZNF338	NA	9034307	Standard	NM_018197	NM_199427	NA	Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000361387.2:c.1752C>A	20.37:g.50701282G>T		NA	Q9NTS7|Q9NVH4	37	CCDS13439.1																																																																																			ZFP64-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079743.2		-	ENST00000361387.2	Silent	SNP	20 : 50701282 - 50701282 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	261	41
WARS	7453	broad.mit.edu	37	14	100813093	100813093	+	Silent	SNP	G	G	A	rs141490520		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100813093G>A	ENST00000355338.2	-	7	1434	c.816C>T	c.(814-816)agC>agT	p.S272S	WARS_ENST00000556645.1_Silent_p.S231S|WARS_ENST00000392882.2_Silent_p.S272S|WARS_ENST00000557135.1_Silent_p.S272S|WARS_ENST00000344102.5_Silent_p.S231S|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000358655.4_Silent_p.S231S	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	272					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CAATGCAGTCGCTGTCAGTGA	0.473		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	146	107	120		816,816,693,693	-5.3	0.9	14	dbSNP_134	120	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	WARS	NM_004184.3,NM_173701.1,NM_213645.1,NM_213646.1	,,,	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	,,,	272/472,272/472,231/431,231/431	100813093	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	7453	7453	6.1.1.2	Aminoacyl tRNA synthetases / Class I	12729	protein-coding gene	gene with protein product	tryptophan tRNA ligase 1, cytoplasmic	191050		IFI53	NA	1537332, 1763065	Standard	NM_004184	NM_004184	NA	Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.816C>T	14.37:g.100813093G>A		NA	A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	37	CCDS9960.1	.	.	.	.	.	.	.	.	.	.	G	1.204	-0.631742	0.03584	0.0	1.16E-4	ENSG00000140105	ENST00000554601	.	.	.	5.79	-5.31	0.02730	.	.	.	.	.	T	0.62282	0.2415	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63225	-0.6685	4	.	.	.	-5.3317	13.9893	0.64355	0.5038:0.0:0.4962:0.0	.	.	.	.	V	25	.	.	A	-	2	0	WARS	99882846	0.775000	0.28604	0.912000	0.35992	0.023000	0.10783	0.026000	0.13599	-1.029000	0.03317	-0.982000	0.02568	GCG	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414236.1		-	ENST00000355338.2	Silent	SNP	14 : 100813093 - 100813093 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	316	54
C11orf70	85016	broad.mit.edu	37	11	101951987	101951987	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:101951987C>A	ENST00000434758.2	+	6	678	c.650C>A	c.(649-651)tCt>tAt	p.S217Y	C11orf70_ENST00000526781.1_Missense_Mutation_p.S217Y	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	217										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		CAGATTACCTCTTCTGTCTTT	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	87	86			NA	NA	11		NA											NA				101951987		2203	4295	6498	SO:0001583	missense			AK094851	CCDS8313.1, CCDS8313.2, CCDS53698.1	11q22.1	2012-05-31			ENSG00000137691	ENSG00000137691	85016	85016			28188	protein-coding gene	gene with protein product					NA		Standard	NM_032930	NM_032930	NA	Approved	MGC13040	uc001pgp.3	Q9BRQ4	OTTHUMG00000167320	ENST00000434758.2:c.650C>A	11.37:g.101951987C>A	ENSP00000414390:p.Ser217Tyr	NA		37	CCDS8313.2	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517777	0.85495	.	.	ENSG00000137691	ENST00000434758;ENST00000526781;ENST00000423732	.	.	.	5.74	5.74	0.90152	.	0.047893	0.85682	D	0.000000	D	0.83672	0.5305	M	0.83603	2.65	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.85111	0.0963	9	0.87932	D	0	-25.6465	18.8612	0.92273	0.0:1.0:0.0:0.0	.	217	Q9BRQ4	CK070_HUMAN	Y	217;217;179	.	ENSP00000392150:S179Y	S	+	2	0	C11orf70	101457197	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.119000	0.71590	2.873000	0.98535	0.563000	0.77884	TCT	C11orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394144.1		+	ENST00000434758.2	Missense_Mutation	SNP	11 : 101951987 - 101951987 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	344	60
NEB	4703	broad.mit.edu	37	2	152471039	152471039	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152471039C>A	ENST00000603639.1	-	75	11351	c.11352G>T	c.(11350-11352)aaG>aaT	p.K3784N	NEB_ENST00000604864.1_Missense_Mutation_p.K3784N|NEB_ENST00000427231.2_Missense_Mutation_p.K3784N|NEB_ENST00000397345.3_Missense_Mutation_p.K3784N|NEB_ENST00000172853.10_Missense_Mutation_p.K3541N|NEB_ENST00000409198.1_Missense_Mutation_p.K3541N			P20929	NEBU_HUMAN	nebulin	3784					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCGGGTCATCCTTAATGTTCC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	163	166			NA	NA	2		NA											NA				152471039		1932	4133	6065	SO:0001583	missense			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091	4703	4703			7720	protein-coding gene	gene with protein product	nemaline myopathy type 2	161650		NEM2	NA	10051637, 9359044	Standard	NM_004543	NM_001164507	NA	Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000603639.1:c.11352G>T	2.37:g.152471039C>A	ENSP00000473894:p.Lys3784Asn	NA	Q15346|Q53QQ2|Q53TG8	37	CCDS54407.1	.	.	.	.	.	.	.	.	.	.	C	9.261	1.043255	0.19748	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05855	3.41;3.4;3.38;3.41	5.78	-0.992	0.10232	.	0.799704	0.11944	N	0.514403	T	0.02494	0.0076	N	0.14661	0.345	0.80722	D	1	P	0.36412	0.552	B	0.28991	0.097	T	0.55296	-0.8163	10	0.18710	T	0.47	.	3.4418	0.07466	0.1104:0.5012:0.2146:0.1737	.	3541	P20929	NEBU_HUMAN	N	3541;3784;3784;3541	ENSP00000386259:K3541N;ENSP00000380505:K3784N;ENSP00000416578:K3784N;ENSP00000172853:K3541N	ENSP00000172853:K3541N	K	-	3	2	NEB	152179285	0.769000	0.28531	0.506000	0.27664	0.068000	0.16541	0.024000	0.13555	-0.084000	0.12595	0.655000	0.94253	AAG	NEB-017	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000469059.2		-	ENST00000603639.1	Missense_Mutation	SNP	2 : 152471039 - 152471039 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1133	322
KMT2D	8085	broad.mit.edu	37	12	49444835	49444835	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49444835A>G	ENST00000301067.7	-	10	2630	c.2631T>C	c.(2629-2631)ccT>ccC	p.P877P		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D	NA											NA						GCAGCTCCTCAGGTGCAGGGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	55	53			NA	NA	12		NA											NA				49444835		1974	4171	6145	SO:0001819	synonymous_variant			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.2631T>C	12.37:g.49444835A>G		NA		37	CCDS44873.1																																																																																			KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390183.2		-	ENST00000301067.7	Silent	SNP	12 : 49444835 - 49444835 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	412	94
CYP2C18	1562	broad.mit.edu	37	10	96493196	96493196	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96493196G>A	ENST00000285979.6	+	8	1490		c.e8+1		CYP2C19_ENST00000464755.1_Splice_Site|CYP2C18_ENST00000339022.5_Splice_Site	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18	NA										NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TTCTCAGCAGGTAATAGATAT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	114	119			NA	NA	10		NA											NA				96493196		2203	4300	6503	SO:0001630	splice_region_variant			M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242	1562	1562		Cytochrome P450s	2620	protein-coding gene	gene with protein product		601131	cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18	CYP2C17	NA	1896026, 2009263	Standard	NM_000772	NM_000772	NA	Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.1291+1G>A	10.37:g.96493196G>A		NA		37	CCDS7435.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.405243	0.25378	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	.	.	.	4.05	3.14	0.36123	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3368	0.38056	0.1076:0.0:0.8924:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYP2C18	96483186	1.000000	0.71417	0.995000	0.50966	0.163000	0.22366	8.335000	0.90031	0.886000	0.36113	0.455000	0.32223	.	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049486.1	Intron	+	ENST00000285979.6	Splice_Site	SNP	10 : 96493196 - 96493196 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	429	110
RAB9A	9367	broad.mit.edu	37	X	13727055	13727055	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:13727055G>A	ENST00000464506.1	+	3	469	c.190G>A	c.(190-192)Gca>Aca	p.A64T	RAB9A_ENST00000243325.5_3'UTR	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	P51151	RAB9A_HUMAN	RAB9A, member RAS oncogene family	64					protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome|lysosome|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						TTGGGACACGGCAGGTCAGGA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	149	150			NA	NA	X		NA											NA				13727055		2203	4300	6503	SO:0001583	missense			U44103	CCDS14156.1	Xp22.2	2010-04-19	2007-01-15	2007-01-15	ENSG00000123595	ENSG00000123595	9367	9367		RAB, member RAS oncogene	9792	protein-coding gene	gene with protein product		300284	RAB9, member RAS oncogene family	RAB9	NA	9126495	Standard	NM_004251	NM_004251	NA	Approved		uc010neh.3	P51151	OTTHUMG00000021156	ENST00000464506.1:c.190G>A	X.37:g.13727055G>A	ENSP00000420127:p.Ala64Thr	NA	A8K390|Q6ICN1	37	CCDS14156.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105151	0.77096	.	.	ENSG00000123595	ENST00000464506	D	0.88741	-2.42	5.51	5.51	0.81932	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.95987	0.8693	M	0.92880	3.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96820	0.9603	9	.	.	.	-0.246	18.4388	0.90656	0.0:0.0:1.0:0.0	.	64	P51151	RAB9A_HUMAN	T	64	ENSP00000420127:A64T	.	A	+	1	0	RAB9A	13636976	1.000000	0.71417	0.052000	0.19188	0.570000	0.35934	9.606000	0.98325	2.296000	0.77279	0.594000	0.82650	GCA	RAB9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055802.1		+	ENST00000464506.1	Missense_Mutation	SNP	X : 13727055 - 13727055 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	860	258
CERS4	79603	broad.mit.edu	37	19	8321538	8321538	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8321538G>T	ENST00000559336.1	+	8	838	c.556G>T	c.(556-558)Gag>Tag	p.E186*	CERS4_ENST00000559450.1_Nonsense_Mutation_p.E186*|CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000558331.1_Nonsense_Mutation_p.E135*|CERS4_ENST00000251363.5_Nonsense_Mutation_p.E186*			Q9HA82	CERS4_HUMAN	ceramide synthase 4	186	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity				NA						GTACCTCTTGGAGCTGGGTTT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	138	148			NA	NA	19		NA											NA				8321538		2203	4300	6503	SO:0001587	stop_gained				CCDS12197.1	19p13.2	2014-09-11	2011-07-08	2011-07-08	ENSG00000090661	ENSG00000090661	79603	79603		Homeoboxes / CERS class	23747	protein-coding gene	gene with protein product		615334	LAG1 longevity assurance homolog 4 (S. cerevisiae), LAG1 homolog, ceramide synthase 4	LASS4	NA		Standard	NM_024552	NM_024552	NA	Approved	FLJ12089, Trh1	uc002mjg.3	Q9HA82	OTTHUMG00000172570	ENST00000559336.1:c.556G>T	19.37:g.8321538G>T	ENSP00000453815:p.Glu186*	NA	D6W665	37		.	.	.	.	.	.	.	.	.	.	G	16.41	3.115408	0.56505	.	.	ENSG00000090661	ENST00000251363	.	.	.	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-29.1994	14.479	0.67567	0.0:0.0:1.0:0.0	.	.	.	.	X	186	.	ENSP00000251363:E186X	E	+	1	0	CERS4	8227538	1.000000	0.71417	0.915000	0.36163	0.037000	0.13140	8.112000	0.89566	2.009000	0.58944	0.462000	0.41574	GAG	CERS4-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000419202.1		+	ENST00000559336.1	Nonsense_Mutation	SNP	19 : 8321538 - 8321538 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	511	90
DNAH17	8632	broad.mit.edu	37	17	76451842	76451842	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76451842G>T	ENST00000585328.1	-	63	10163	c.10039C>A	c.(10039-10041)Ctg>Atg	p.L3347M	DNAH17_ENST00000586052.1_Intron|DNAH17_ENST00000389840.5_Missense_Mutation_p.L3338M	NM_173628.3	NP_775899.3			dynein, axonemal, heavy chain 17	NA										NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCCCCACACAGCGTGACCCCC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	68	75			NA	NA	17		NA											NA				76451842		2203	4300	6503	SO:0001583	missense			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775	8632	8632		Axonemal dyneins	2946	protein-coding gene	gene with protein product		610063	dynein, axonemal, heavy polypeptide 17, dynein, axonemal, heavy chain like 1, dynein, axonemal, heavy like 1	DNAHL1	NA	9545504	Standard	NM_173628	NM_173628	NA	Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.10039C>A	17.37:g.76451842G>T	ENSP00000465516:p.Leu3347Met	NA		37		.	.	.	.	.	.	.	.	.	.	G	15.74	2.923168	0.52653	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	D	0.81579	-1.51	5.06	3.88	0.44766	.	0.000000	0.47093	D	0.000245	D	0.88340	0.6410	M	0.85197	2.74	0.30684	N	0.752072	D	0.71674	0.998	D	0.69479	0.964	D	0.85895	0.1431	10	0.59425	D	0.04	.	9.4508	0.38725	0.2271:0.0:0.7729:0.0	.	3347	E7EUM8	.	M	3347;3338	ENSP00000374490:L3338M	ENSP00000300671:L3347M	L	-	1	2	DNAH17	73963437	0.791000	0.28800	0.926000	0.36857	0.642000	0.38348	1.082000	0.30803	2.334000	0.79466	0.655000	0.94253	CTG	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000318962.2		-	ENST00000585328.1	Missense_Mutation	SNP	17 : 76451842 - 76451842 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	145	28
PCSK4	54760	broad.mit.edu	37	19	1487861	1487861	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1487861C>A	ENST00000300954.5	-	5	578		c.e5-1		PCSK4_ENST00000587784.1_Splice_Site	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	NA					proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGGGGTCCTGGGGGCAGG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	14	13			NA	NA	19		NA											NA				1487861		2149	4260	6409	SO:0001630	splice_region_variant			AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257	54760	54760			8746	protein-coding gene	gene with protein product		600487			NA	7782070	Standard	NM_017573	XM_005259586	NA	Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.517-1G>T	19.37:g.1487861C>A		NA	Q8IY88|Q9UF79	37	CCDS12069.2	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797892	0.50208	.	.	ENSG00000115257	ENST00000300954;ENST00000441747	.	.	.	2.09	2.09	0.27110	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7328	0.51748	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PCSK4	1438861	1.000000	0.71417	0.998000	0.56505	0.789000	0.44602	7.471000	0.80985	1.501000	0.48654	0.491000	0.48974	.	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449703.1	Intron	-	ENST00000300954.5	Splice_Site	SNP	19 : 1487861 - 1487861 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	196	43
NFATC4	4776	broad.mit.edu	37	14	24843013	24843013	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24843013G>A	ENST00000413692.2	+	6	2005	c.1861G>A	c.(1861-1863)Gtg>Atg	p.V621M	NFATC4_ENST00000554050.1_Missense_Mutation_p.V558M|NFATC4_ENST00000553469.1_Missense_Mutation_p.V590M|NFATC4_ENST00000554661.1_Missense_Mutation_p.V488M|NFATC4_ENST00000554591.1_Missense_Mutation_p.V621M|NFATC4_ENST00000422617.3_Missense_Mutation_p.V546M|NFATC4_ENST00000554344.1_Missense_Mutation_p.V488M|NFATC4_ENST00000554473.1_Missense_Mutation_p.V93M|NFATC4_ENST00000539237.2_Missense_Mutation_p.V590M|NFATC4_ENST00000554966.1_Missense_Mutation_p.V571M|NFATC4_ENST00000553879.1_Missense_Mutation_p.V488M|NFATC4_ENST00000555453.1_Missense_Mutation_p.V546M|NFATC4_ENST00000553708.1_Missense_Mutation_p.V558M|NFATC4_ENST00000556279.1_Missense_Mutation_p.V590M|NFATC4_ENST00000250373.4_Missense_Mutation_p.V558M|NFATC4_ENST00000556169.1_Missense_Mutation_p.V546M|NFATC4_ENST00000556759.1_Missense_Mutation_p.V93M|NFATC4_ENST00000555167.1_Missense_Mutation_p.V93M|NFATC4_ENST00000557451.1_Missense_Mutation_p.V488M|NFATC4_ENST00000555590.1_Missense_Mutation_p.V571M|NFATC4_ENST00000424781.2_Missense_Mutation_p.V571M	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	558	IPT/TIG.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CCGGGTACACGTGCCCCAGGG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	74	77			NA	NA	14		NA											NA				24843013		2203	4300	6503	SO:0001583	missense			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968	4776	4776		Nuclear factor of activated T-cells	7778	protein-coding gene	gene with protein product		602699			NA	7749981	Standard	NM_004554	NM_004554	NA	Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000413692.2:c.1861G>A	14.37:g.24843013G>A	ENSP00000388910:p.Val621Met	NA	B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	37	CCDS45089.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939180	0.73557	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453;ENST00000554473;ENST00000556759;ENST00000555167	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81	4.99	4.99	0.66335	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.070256	0.56097	D	0.000027	T	0.59918	0.2229	L	0.40543	1.245	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.997;0.999;1.0;0.999;1.0;1.0;0.999;0.999;0.999;0.999;1.0;1.0;1.0;1.0;1.0	P;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.70716	0.822;0.934;0.95;0.934;0.95;0.966;0.934;0.934;0.934;0.934;0.95;0.966;0.966;0.95;0.97	T	0.62685	-0.6802	10	0.87932	D	0	-5.9858	15.8129	0.78578	0.0:0.0:1.0:0.0	.	546;546;590;590;571;571;571;621;621;546;488;590;535;621;558	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-12;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	M	621;621;571;571;571;590;590;590;558;558;558;488;488;488;546;488;546;546;93;93;93	ENSP00000388910:V621M;ENSP00000452039:V621M;ENSP00000451224:V571M;ENSP00000450644:V571M;ENSP00000388668:V571M;ENSP00000439350:V590M;ENSP00000452270:V590M;ENSP00000451502:V590M;ENSP00000451151:V558M;ENSP00000250373:V558M;ENSP00000450590:V558M;ENSP00000452349:V488M;ENSP00000450469:V488M;ENSP00000450733:V488M;ENSP00000451454:V546M;ENSP00000451284:V488M;ENSP00000396788:V546M;ENSP00000450686:V546M;ENSP00000450810:V93M;ENSP00000451183:V93M;ENSP00000451395:V93M	ENSP00000250373:V558M	V	+	1	0	NFATC4	23912853	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.841000	0.48223	2.573000	0.86826	0.655000	0.94253	GTG	NFATC4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414125.2		+	ENST00000413692.2	Missense_Mutation	SNP	14 : 24843013 - 24843013 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	509	119
FBXL7	23194	broad.mit.edu	37	5	15936593	15936593	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:15936593G>T	ENST00000504595.1	+	4	1255	c.774G>T	c.(772-774)cgG>cgT	p.R258R	FBXL7_ENST00000510662.1_Silent_p.R211R|FBXL7_ENST00000329673.7_Silent_p.R246R	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	258					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCTTGACCCGGGAGGCCTCCA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	55	55			NA	NA	5		NA											NA				15936593		2112	4222	6334	SO:0001819	synonymous_variant			AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580	23194	23194		F-boxes / Leucine-rich repeats	13604	protein-coding gene	gene with protein product		605656			NA	10048485, 10531035	Standard	NM_012304	NM_012304	NA	Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.774G>T	5.37:g.15936593G>T		NA	B9EGF1|O94926	37	CCDS54833.1																																																																																			FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366117.1		+	ENST00000504595.1	Silent	SNP	5 : 15936593 - 15936593 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	218	33
HPR	3250	broad.mit.edu	37	16	72110289	72110289	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72110289C>T	ENST00000540303.2	+	5	388	c.356C>T	c.(355-357)gCt>gTt	p.A119V	HPR_ENST00000561690.1_Intron|HPR_ENST00000356967.5_Missense_Mutation_p.A119V|HPR_ENST00000228226.8_Missense_Mutation_p.A156V	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	119	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				CCCTGGCAGGCTAAGATGGTT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	39	45			NA	NA	16		NA											NA				72110289		1994	4165	6159	SO:0001583	missense			BC160066	CCDS42193.1	16q22.2	2012-10-03			ENSG00000261701	ENSG00000261701	3250	3250			5156	protein-coding gene	gene with protein product		140210			NA	2987228, 16778136	Standard	NM_020995	NM_020995	NA	Approved		uc002fby.3	P00739	OTTHUMG00000173010	ENST00000540303.2:c.356C>T	16.37:g.72110289C>T	ENSP00000441828:p.Ala119Val	NA	Q7LE20|Q92658|Q92659|Q9ULB0	37	CCDS42193.1	.	.	.	.	.	.	.	.	.	.	.	9.882	1.201811	0.22121	.	.	ENSG00000257017	ENST00000356967;ENST00000540303;ENST00000228226	D;D;D	0.91577	-2.87;-2.87;-2.87	2.46	1.32	0.21799	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.066639	0.56097	D	0.000022	D	0.87184	0.6114	N	0.19112	0.55	0.40059	D	0.97587	D	0.71674	0.998	D	0.70227	0.968	T	0.82598	-0.0378	10	0.26408	T	0.33	.	4.0998	0.10009	0.0:0.4798:0.3603:0.1599	.	119	P00739	HPTR_HUMAN	V	119;119;156	ENSP00000349451:A119V;ENSP00000441828:A119V;ENSP00000228226:A156V	ENSP00000228226:A156V	A	+	2	0	HP	70667790	0.931000	0.31567	0.997000	0.53966	0.236000	0.25371	1.823000	0.39062	1.381000	0.46364	0.194000	0.17425	GCT	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421696.1		+	ENST00000540303.2	Missense_Mutation	SNP	16 : 72110289 - 72110289 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	360	71
MIR3654	100500804	broad.mit.edu	37	11	62346472	62346472	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62346472G>A	ENST00000496634.2	-	5	766	c.721C>T	c.(721-723)Ctg>Ttg	p.L241L	TUT1_ENST00000476907.1_Silent_p.L241L|TUT1_ENST00000308436.7_Silent_p.L279L					microRNA 3654	NA										NS(1)	1						GCCGAGTCCAGCGATGGAGAT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	36	34			NA	NA	11		NA											NA				62346472		2202	4299	6501	SO:0001819	synonymous_variant					7	2013-01-25				ENSG00000255508	100500804	100500804		ncRNAs / Micro RNAs	38896	non-coding RNA	RNA, micro					NA		Standard	NR_037427	NR_037427	NA	Approved	hsa-mir-3654				ENST00000496634.2:c.721C>T	11.37:g.62346472G>A		NA		37																																																																																				MIR3654-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000395018.2		-	ENST00000496634.2	Silent	SNP	11 : 62346472 - 62346472 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	221	36
LIG4	3981	broad.mit.edu	37	13	108862042	108862042	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108862042A>C	ENST00000356922.4	-	2	1847	c.1575T>G	c.(1573-1575)taT>taG	p.Y525*	LIG4_ENST00000442234.1_Nonsense_Mutation_p.Y525*|LIG4_ENST00000405925.1_Nonsense_Mutation_p.Y525*	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	525					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AAGGCTTCCAATACTTGGCCA	0.428		NA						Non-homologous end-joining						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	101	99			NA	NA	13		NA											NA				108862042		2203	4300	6503	SO:0001587	stop_gained			X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	3981	3981	6.5.1.1		6601	protein-coding gene	gene with protein product	polydeoxyribonucleotide synthase [ATP] 4, polynucleotide ligase, sealase, DNA repair enzyme, DNA joinase	601837			NA	7760816	Standard	NM_002312	NM_001098268	NA	Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.1575T>G	13.37:g.108862042A>C	ENSP00000349393:p.Tyr525*	NA	Q8IY66|Q8TEU5	37	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.727245	0.69074	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	.	.	.	5.28	-5.29	0.02747	.	0.202657	0.51477	D	0.000089	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	20.6139	0.99472	0.131:0.0:0.869:0.0	.	.	.	.	X	525	.	ENSP00000349393:Y525X	Y	-	3	2	LIG4	107660043	0.389000	0.25205	0.066000	0.19879	0.178000	0.23041	-0.339000	0.07832	-0.874000	0.04027	-0.421000	0.06004	TAT	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045738.4		-	ENST00000356922.4	Nonsense_Mutation	SNP	13 : 108862042 - 108862042 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	680	116
CRIM1	51232	broad.mit.edu	37	2	36704168	36704168	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:36704168C>T	ENST00000280527.2	+	6	1495	c.1128C>T	c.(1126-1128)tgC>tgT	p.C376C		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	376	VWFC 1.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				AGATAAACTGCGAGAGGTACT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	98	103			NA	NA	2		NA											NA				36704168		2203	4300	6503	SO:0001819	synonymous_variant			AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938	51232	51232			2359	protein-coding gene	gene with protein product		606189	cysteine-rich motor neuron 1	S52	NA	10642437	Standard	NM_016441	NM_016441	NA	Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.1128C>T	2.37:g.36704168C>T		NA	Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	37	CCDS1783.1																																																																																			CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216878.2		+	ENST00000280527.2	Silent	SNP	2 : 36704168 - 36704168 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	496	134
SEC16B	89866	broad.mit.edu	37	1	177913771	177913771	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177913771C>T	ENST00000308284.6	-	15	1895	c.1806G>A	c.(1804-1806)gaG>gaA	p.E602E	RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	602					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TCTGGATTGCCTCAGTTGTTG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	141	140			NA	NA	1		NA											NA				177913771		1900	4118	6018	SO:0001819	synonymous_variant			AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341	89866	89866			30301	protein-coding gene	gene with protein product	regucalcin gene promotor region related protein	612855	leucine zipper transcription regulator 2	LZTR2	NA	11572484, 11605020	Standard	NM_033127	NM_033127	NA	Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.1806G>A	1.37:g.177913771C>T		NA	A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	37	CCDS44281.1																																																																																			SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084773.16		-	ENST00000308284.6	Silent	SNP	1 : 177913771 - 177913771 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	849	188
LRRC16B	90668	broad.mit.edu	37	14	24527939	24527939	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24527939C>A	ENST00000342740.5	+	18	1597	c.1443C>A	c.(1441-1443)acC>acA	p.T481T	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	481										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GAGCTGTCACCTGTGTAGGCA	0.637		NA									OREG0022615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	97	96			NA	NA	14		NA											NA				24527939		2203	4300	6503	SO:0001819	synonymous_variant			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12			90668	90668			20272	protein-coding gene	gene with protein product		614716	chromosome 14 open reading frame 121	C14orf121	NA	19846667	Standard	NM_138360	NM_138360	NA	Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.1443C>A	14.37:g.24527939C>A		772	Q8TEF7|Q96HS9	37	CCDS32054.1																																																																																			LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416527.1		+	ENST00000342740.5	Silent	SNP	14 : 24527939 - 24527939 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	247	53
COL6A6	131873	broad.mit.edu	37	3	130292992	130292992	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130292992T>C	ENST00000358511.6	+	7	3201	c.3170T>C	c.(3169-3171)tTc>tCc	p.F1057S	COL6A6_ENST00000453409.2_Missense_Mutation_p.F1057S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1057	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CTGGGAACTTTCATAGGTGAA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	59	59			NA	NA	3		NA											NA				130292992		1866	4114	5980	SO:0001583	missense			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384	131873	131873		Collagens	27023	protein-coding gene	gene with protein product					NA		Standard	NM_001102608	NM_001102608	NA	Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3170T>C	3.37:g.130292992T>C	ENSP00000351310:p.Phe1057Ser	NA	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	37	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	T	0.928	-0.713765	0.03206	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.83673	-1.75;-1.75	5.15	-0.485	0.12067	von Willebrand factor, type A (3);	0.310046	0.28161	N	0.016375	T	0.71459	0.3342	M	0.64676	1.99	0.09310	N	1	B	0.25850	0.136	B	0.21151	0.033	T	0.53464	-0.8435	10	0.10636	T	0.68	.	4.4914	0.11815	0.4938:0.1419:0.0:0.3644	.	1057	A6NMZ7	CO6A6_HUMAN	S	1057	ENSP00000351310:F1057S;ENSP00000399236:F1057S	ENSP00000351310:F1057S	F	+	2	0	COL6A6	131775682	0.004000	0.15560	0.000000	0.03702	0.021000	0.10359	0.469000	0.22067	-0.240000	0.09696	-0.496000	0.04628	TTC	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356705.5		+	ENST00000358511.6	Missense_Mutation	SNP	3 : 130292992 - 130292992 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	248	58
NPAS2	4862	broad.mit.edu	37	2	101606760	101606760	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101606760G>T	ENST00000335681.5	+	18	2155	c.1870G>T	c.(1870-1872)Ggc>Tgc	p.G624C	NPAS2_ENST00000542504.1_Missense_Mutation_p.G689C	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	624					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCAGAGCAGCGGCCGCTCTGG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	73	73			NA	NA	2		NA											NA				101606760		2203	4300	6503	SO:0001583	missense			U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485	4862	4862		Basic helix-loop-helix proteins	7895	protein-coding gene	gene with protein product		603347			NA	9012850, 9079689	Standard		NM_002518	NA	Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.1870G>T	2.37:g.101606760G>T	ENSP00000338283:p.Gly624Cys	NA	Q4ZFV9|Q53SQ3|Q86V96|Q99629	37	CCDS2048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.160|8.160	0.789285|0.789285	0.16258|0.16258	.|.	.|.	ENSG00000170485|ENSG00000170485	ENST00000335681;ENST00000542504|ENST00000433408	T;T|.	0.05025|.	3.53;3.51|.	4.66|4.66	-0.419|-0.419	0.12340|0.12340	.|.	1.028670|.	0.07683|.	N|.	0.937489|.	T|T	0.31451|0.31451	0.0797|0.0797	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	D;D|.	0.76494|.	0.999;0.993|.	P;P|.	0.60415|.	0.874;0.672|.	T|T	0.29027|0.29027	-1.0025|-1.0025	10|5	0.38643|.	T|.	0.18|.	.|.	5.7997|5.7997	0.18408|0.18408	0.331:0.0:0.5374:0.1316|0.331:0.0:0.5374:0.1316	.|.	689;624|.	F5H027;Q99743|.	.;NPAS2_HUMAN|.	C|L	624;689|122	ENSP00000338283:G624C;ENSP00000438428:G689C|.	ENSP00000338283:G624C|.	G|R	+|+	1|2	0|0	NPAS2|NPAS2	100973192|100973192	0.000000|0.000000	0.05858|0.05858	0.013000|0.013000	0.15412|0.15412	0.028000|0.028000	0.11728|0.11728	-1.072000|-1.072000	0.03434|0.03434	-0.092000|-0.092000	0.12417|0.12417	-0.463000|-0.463000	0.05309|0.05309	GGC|CGG	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253168.3		+	ENST00000335681.5	Missense_Mutation	SNP	2 : 101606760 - 101606760 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	444	125
NSUN4	387338	broad.mit.edu	37	1	46827478	46827478	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46827478T>C	ENST00000474844.1	+	6	1765	c.1115T>C	c.(1114-1116)tTt>tCt	p.F372S	NSUN4_ENST00000537428.1_Missense_Mutation_p.F323S|NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Missense_Mutation_p.F323S	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	372							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					ATGGCCAATTTTGGCCCCATG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	132	135			NA	NA	1		NA											NA				46827478		2203	4300	6503	SO:0001583	missense			AK021577	CCDS534.1, CCDS57996.1	1p34	2012-02-24	2009-11-23		ENSG00000117481	ENSG00000117481	387338	387338		NOP2/Sun domain containing	31802	protein-coding gene	gene with protein product	sperm head and tail associated protein	615394	NOL1/NOP2/Sun domain family 4, NOL1/NOP2/Sun domain family, member 4		NA		Standard	NM_199044	NM_199044	NA	Approved	MGC22960, SHTAP	uc001cpr.2	Q96CB9	OTTHUMG00000007808	ENST00000474844.1:c.1115T>C	1.37:g.46827478T>C	ENSP00000419740:p.Phe372Ser	NA	A8K6S6|Q5TDF7|Q96AN8|Q9HAJ8	37	CCDS534.1	.	.	.	.	.	.	.	.	.	.	T	19.32	3.805739	0.70682	.	.	ENSG00000117481	ENST00000474844;ENST00000536062;ENST00000537428	T;T;T	0.09073	3.02;3.02;3.02	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.30572	0.0769	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;0.992	D;P	0.71414	0.973;0.889	T	0.02464	-1.1155	10	0.51188	T	0.08	-16.6586	15.6414	0.77006	0.0:0.0:0.0:1.0	.	239;372	B3KUM0;Q96CB9	.;NSUN4_HUMAN	S	372;323;323	ENSP00000419740:F372S;ENSP00000438912:F323S;ENSP00000437758:F323S	ENSP00000419740:F372S	F	+	2	0	NSUN4	46600065	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	6.075000	0.71261	2.279000	0.76181	0.533000	0.62120	TTT	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021427.1		+	ENST00000474844.1	Missense_Mutation	SNP	1 : 46827478 - 46827478 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	246	47
ADAP2	55803	broad.mit.edu	37	17	29250056	29250056	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29250056C>T	ENST00000580525.1	+	2	276	c.193C>T	c.(193-195)Cga>Tga	p.R65*	ADAP2_ENST00000330889.3_Nonsense_Mutation_p.R65*			Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	65	Arf-GAP.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TAAATCTGTGCGACTTGACTT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Unknown(1)	central_nervous_system(1)											158	155	156			NA	NA	17		NA											NA				29250056		2203	4300	6503	SO:0001587	stop_gained			AJ238994	CCDS11261.1	17q11.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000184060	ENSG00000184060	55803	55803		ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing	16487	protein-coding gene	gene with protein product		608635	centaurin, alpha 2	CENTA2	NA		Standard	NM_018404	XM_005258008	NA	Approved		uc002hfx.3	Q9NPF8	OTTHUMG00000132868	ENST00000580525.1:c.193C>T	17.37:g.29250056C>T	ENSP00000464121:p.Arg65*	NA	Q8N4Q6|Q96SD5	37		.	.	.	.	.	.	.	.	.	.	C	29.6	5.021109	0.93462	.	.	ENSG00000184060	ENST00000330889	.	.	.	5.59	0.397	0.16314	.	0.317299	0.35772	N	0.002983	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3014	0.73955	0.2593:0.7407:0.0:0.0	.	.	.	.	X	65	.	ENSP00000329468:R65X	R	+	1	2	ADAP2	26274182	0.405000	0.25336	0.980000	0.43619	0.769000	0.43574	0.593000	0.23999	0.047000	0.15862	-0.397000	0.06425	CGA	ADAP2-005	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000444512.1		+	ENST00000580525.1	Nonsense_Mutation	SNP	17 : 29250056 - 29250056 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	943	185
KIAA1549	57670	broad.mit.edu	37	7	138603632	138603632	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138603632C>T	ENST00000440172.1	-	2	788	c.740G>A	c.(739-741)gGc>gAc	p.G247D	KIAA1549_ENST00000242365.4_Missense_Mutation_p.G197D|KIAA1549_ENST00000422774.1_Missense_Mutation_p.G247D	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	247						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CAAATTCCTGCCAGGAGTTGG	0.512		NA	O	BRAF	pilocytic astrocytoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(119;1534 1718 44213 46230 50068)		Dom	yes		7	7q34	57670	KIAA1549		O	0													100	102	101			NA	NA	7		NA											NA				138603632		2035	4178	6213	SO:0001583	missense				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778	57670	57670			22219	protein-coding gene	gene with protein product		613344			NA		Standard		NM_020910	NA	Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000440172.1:c.740G>A	7.37:g.138603632C>T	ENSP00000406661:p.Gly247Asp	NA	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	37	CCDS47723.2	.	.	.	.	.	.	.	.	.	.	C	17.54	3.415553	0.62511	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.27402	1.67;1.67;1.67	4.89	3.0	0.34707	.	0.691511	0.13271	N	0.400557	T	0.18964	0.0455	N	0.14661	0.345	0.09310	N	1	B;B	0.32160	0.244;0.358	B;B	0.30572	0.055;0.117	T	0.12889	-1.0530	10	0.33940	T	0.23	.	12.5247	0.56079	0.0:0.6777:0.3223:0.0	.	247;247	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	D	247;197;247	ENSP00000406661:G247D;ENSP00000242365:G197D;ENSP00000416040:G247D	ENSP00000242365:G197D	G	-	2	0	KIAA1549	138254172	0.000000	0.05858	0.001000	0.08648	0.936000	0.57629	0.710000	0.25748	0.602000	0.29896	-0.305000	0.09177	GGC	KIAA1549-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347938.2		-	ENST00000440172.1	Missense_Mutation	SNP	7 : 138603632 - 138603632 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	441	83
TBC1D4	9882	broad.mit.edu	37	13	75876437	75876437	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:75876437G>T	ENST00000377636.3	-	16	3199	c.2853C>A	c.(2851-2853)tcC>tcA	p.S951S	TBC1D4_ENST00000478591.1_5'UTR|TBC1D4_ENST00000431480.2_Silent_p.S943S|TBC1D4_ENST00000425511.1_Silent_p.S115S|TBC1D4_ENST00000377625.2_Silent_p.S888S	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	951	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GTTCCTTATAGGATATGTCAG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	120	123			NA	NA	13		NA											NA				75876437		1886	4123	6009	SO:0001819	synonymous_variant			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111	9882	9882			19165	protein-coding gene	gene with protein product	Akt substrate of 160 kDa	612465			NA	11829485, 11994271, 15304337	Standard	NM_014832	XM_005266603	NA	Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.2853C>A	13.37:g.75876437G>T		NA	A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	37	CCDS41901.1																																																																																			TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045283.1		-	ENST00000377636.3	Silent	SNP	13 : 75876437 - 75876437 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	415	62
TRIM14	9830	broad.mit.edu	37	9	100850171	100850171	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100850171G>A	ENST00000341469.2	-	6	919	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	TRIM14_ENST00000375098.3_Missense_Mutation_p.R304W|TRIM14_ENST00000342043.3_Missense_Mutation_p.R304W|TRIM14_ENST00000538344.1_Missense_Mutation_p.R85W|TRIM14_ENST00000478530.1_5'UTR	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	304	B30.2/SPRY.					cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				GCGTCGAACCGCAGCACGGGC	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(14;460 597 13826 51781)							NA				0													5	6	5			NA	NA	9		NA											NA				100850171		1831	3641	5472	SO:0001583	missense			AF220130	CCDS6734.1	9q31.1	2011-04-20	2011-01-25		ENSG00000106785	ENSG00000106785	9830	9830		Tripartite motif containing / Tripartite motif containing	16283	protein-coding gene	gene with protein product		606556	tripartite motif-containing 14		NA	11331580	Standard	NM_014788	XM_005252320	NA	Approved	KIAA0129	uc004ayd.2	Q14142	OTTHUMG00000020339	ENST00000341469.2:c.910C>T	9.37:g.100850171G>A	ENSP00000344208:p.Arg304Trp	NA	A8K9W0|Q5TBQ8|Q9BRD8|Q9C020	37	CCDS6734.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086854	0.55861	.	.	ENSG00000106785	ENST00000375098;ENST00000341469;ENST00000342043;ENST00000375084;ENST00000538344	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	4.56	3.57	0.40892	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.085614	0.45361	D	0.000379	T	0.79958	0.4536	H	0.95294	3.65	0.44547	D	0.997505	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.987;0.987;0.994;0.987	D	0.83396	0.0020	10	0.87932	D	0	.	8.7341	0.34516	0.0:0.0:0.6043:0.3957	.	85;82;304;304	B7ZAZ9;B4E0G2;Q548W9;Q14142	.;.;.;TRI14_HUMAN	W	304;304;304;304;85	ENSP00000364239:R304W;ENSP00000344208:R304W;ENSP00000343990:R304W;ENSP00000445355:R85W	ENSP00000344208:R304W	R	-	1	2	TRIM14	99889992	1.000000	0.71417	0.211000	0.23655	0.392000	0.30506	2.273000	0.43381	2.079000	0.62486	0.305000	0.20034	CGG	TRIM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053350.1		-	ENST00000341469.2	Missense_Mutation	SNP	9 : 100850171 - 100850171 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	100	27
KLHL9	55958	broad.mit.edu	37	9	21334090	21334090	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:21334090C>T	ENST00000359039.4	-	1	1289	c.769G>A	c.(769-771)Gta>Ata	p.V257I	KLHL9_ENST00000537938.1_Missense_Mutation_p.V189I			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	257					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		ATGAAATCTACTGTCTGCACG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	125	128			NA	NA	9		NA											NA				21334090		2203	4300	6503	SO:0001583	missense			AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642	55958	55958		Kelch-like, BTB/POZ domain containing	18732	protein-coding gene	gene with protein product		611201	kelch-like 9 (Drosophila)		NA		Standard	NM_018847	NM_018847	NA	Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.769G>A	9.37:g.21334090C>T	ENSP00000351933:p.Val257Ile	NA	Q8TCQ2	37	CCDS6503.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476530	0.63737	.	.	ENSG00000198642	ENST00000359039;ENST00000537938	T;T	0.70986	-0.5;-0.53	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.84079	0.5393	M	0.83223	2.63	0.80722	D	1	D	0.69078	0.997	D	0.65987	0.94	D	0.83825	0.0249	10	0.39692	T	0.17	.	16.9779	0.86319	0.0:1.0:0.0:0.0	.	257	Q9P2J3	KLHL9_HUMAN	I	257;189	ENSP00000351933:V257I;ENSP00000437733:V189I	ENSP00000351933:V257I	V	-	1	0	KLHL9	21324090	1.000000	0.71417	0.918000	0.36340	0.907000	0.53573	7.408000	0.80041	2.688000	0.91661	0.650000	0.86243	GTA	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051898.2		-	ENST00000359039.4	Missense_Mutation	SNP	9 : 21334090 - 21334090 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	528	100
LIPJ	142910	broad.mit.edu	37	10	90356605	90356605	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90356605C>T	ENST00000371939.3	+	8	949	c.635C>T	c.(634-636)tCa>tTa	p.S212L		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	212					lipid catabolic process		hydrolase activity			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		TTCATTGGTTCAAAGCTGTGT	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	87	82			NA	NA	10		NA											NA				90356605		2203	4294	6497	SO:0001583	missense			BC031219	CCDS31240.1	10q23.31	2008-02-04	2008-02-04	2007-02-27	ENSG00000204022	ENSG00000204022	142910	142910			21773	protein-coding gene	gene with protein product		613921	lipase-like, ab-hydrolase domain containing 1, lipase, family member J	LIPL1	NA		Standard	XM_084377	NM_001010939	NA	Approved	bA425M17.2	uc001kff.3	Q5W064	OTTHUMG00000018691	ENST00000371939.3:c.635C>T	10.37:g.90356605C>T	ENSP00000361007:p.Ser212Leu	NA	A8MT98|Q0P671	37	CCDS31240.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895376	0.33442	.	.	ENSG00000204022	ENST00000371939	T	0.64991	-0.13	4.12	3.21	0.36854	Alpha/beta hydrolase fold-1 (1);	1.015460	0.07928	N	0.977014	T	0.50922	0.1644	L	0.31157	0.91	0.09310	N	0.999999	B	0.02656	0.0	B	0.12837	0.008	T	0.36383	-0.9750	10	0.27785	T	0.31	-32.74	11.1249	0.48312	0.0:0.9061:0.0:0.0939	.	212	Q5W064	LIPJ_HUMAN	L	212	ENSP00000361007:S212L	ENSP00000361007:S212L	S	+	2	0	LIPJ	90346585	0.002000	0.14202	0.044000	0.18714	0.241000	0.25554	1.670000	0.37502	1.092000	0.41356	0.585000	0.79938	TCA	LIPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049248.2		+	ENST00000371939.3	Missense_Mutation	SNP	10 : 90356605 - 90356605 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	625	122
PCDHB14	56122	broad.mit.edu	37	5	140604719	140604719	+	Missense_Mutation	SNP	C	C	T	rs150404611		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140604719C>T	ENST00000239449.4	+	1	1642	c.1642C>T	c.(1642-1644)Cgc>Tgc	p.R548C	PCDHB14_ENST00000515856.2_Missense_Mutation_p.R395C	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	548	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGCTGGTGCGCGTGCTGGT	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(141;50 1831 27899 33809 37648)							NA				0													36	40	39			NA	NA	5		NA											NA				140604719		2202	4297	6499	SO:0001583	missense			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327	56122	56122		Cadherins / Protocadherins : Clustered	8685	other	protocadherin		606340			NA	10380929	Standard	NM_018934	NM_018934	NA	Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1642C>T	5.37:g.140604719C>T	ENSP00000239449:p.Arg548Cys	NA	Q4FZA4|Q4KN11	37	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	18.25	3.581771	0.65992	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.01767	4.65;4.65	4.15	4.15	0.48705	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.09862	0.0242	M	0.81802	2.56	0.40766	D	0.983045	D	0.89917	1.0	D	0.85130	0.997	T	0.00565	-1.1668	9	0.87932	D	0	.	11.7144	0.51643	0.1769:0.8231:0.0:0.0	.	548	Q9Y5E9	PCDBE_HUMAN	C	395;548	ENSP00000444518:R395C;ENSP00000239449:R548C	ENSP00000239449:R548C	R	+	1	0	PCDHB14	140584903	0.005000	0.15991	1.000000	0.80357	0.992000	0.81027	0.383000	0.20651	2.048000	0.60808	0.556000	0.70494	CGC	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251814.2		+	ENST00000239449.4	Missense_Mutation	SNP	5 : 140604719 - 140604719 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	755	59
CCNY	219771	broad.mit.edu	37	10	35841947	35841947	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35841947G>A	ENST00000374704.4	+	8	760	c.580G>A	c.(580-582)Gtg>Atg	p.V194M	CCNY_ENST00000339497.5_Splice_Site_p.V169M|CCNY_ENST00000374706.1_Splice_Site_p.V140M|CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000265375.9_Splice_Site_p.V140M	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	194	Cyclin N-terminal.				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						GTCTTCCCAGGTGTACCTTGA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	105	105			NA	NA	10		NA											NA				35841947		2203	4300	6503	SO:0001630	splice_region_variant			AF413522, AY504868	CCDS7189.1, CCDS7190.1, CCDS60513.1	10p11.22	2011-01-25	2007-02-09	2007-02-09	ENSG00000108100	ENSG00000108100	219771	219771			23354	protein-coding gene	gene with protein product		612786	chromosome 10 open reading frame 9	C10orf9	NA	20441050	Standard	NM_181698	XM_005252388	NA	Approved	CFP1, CBCP1	uc001iyw.4	Q8ND76	OTTHUMG00000017955	ENST00000374704.4:c.580-1G>A	10.37:g.35841947G>A		NA	B7ZKX9|D3DRY9|Q2M3V4|Q2TU96|Q6NT86|Q7Z4U7|Q8TEX2|Q8TEX3|Q96M99|Q96P45	37	CCDS7189.1	.	.	.	.	.	.	.	.	.	.	G	33	5.242475	0.95272	.	.	ENSG00000108100	ENST00000374706;ENST00000537547;ENST00000374704;ENST00000339497;ENST00000265375;ENST00000456784	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	5.32	5.32	0.75619	Cyclin, N-terminal (1);Cyclin-like (3);	0.052937	0.85682	D	0.000000	D	0.95937	0.8677	M	0.92784	3.345	0.80722	D	1	D;D;D	0.67145	0.996;0.995;0.996	D;D;D	0.72338	0.966;0.962;0.977	D	0.96513	0.9380	9	.	.	.	-0.383	19.3632	0.94451	0.0:0.0:1.0:0.0	.	61;169;194	B7Z8E4;Q8ND76-2;Q8ND76	.;.;CCNY_HUMAN	M	140;194;194;169;140;61	ENSP00000363838:V140M;ENSP00000363836:V194M;ENSP00000344275:V169M;ENSP00000265375:V140M	.	V	+	1	0	CCNY	35881953	1.000000	0.71417	0.998000	0.56505	0.913000	0.54294	9.772000	0.98984	2.652000	0.90054	0.655000	0.94253	GTG	CCNY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047568.2	Missense_Mutation	+	ENST00000374704.4	Splice_Site	SNP	10 : 35841947 - 35841947 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	487	91
SFRP4	6424	broad.mit.edu	37	7	37955920	37955920	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:37955920G>A	ENST00000436072.2	-	1	597	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	74	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AGGAAGAAGCGCAGCACGGCG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	116	126			NA	NA	7		NA											NA				37955920		2203	4300	6503	SO:0001583	missense			AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483	6424	6424		Secreted frizzled-related proteins	10778	protein-coding gene	gene with protein product		606570			NA	10211996	Standard	NM_003014	NM_003014	NA	Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.220C>T	7.37:g.37955920G>A	ENSP00000410715:p.Arg74Cys	NA	B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	37	CCDS5453.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.922280	0.73213	.	.	ENSG00000106483	ENST00000436072	T	0.76839	-1.05	4.36	4.36	0.52297	Frizzled domain (5);	0.129212	0.53938	D	0.000042	D	0.85383	0.5684	M	0.78801	2.425	0.41915	D	0.990483	D	0.69078	0.997	P	0.61592	0.891	D	0.87268	0.2284	10	0.66056	D	0.02	.	12.3128	0.54938	0.0:0.1722:0.8278:0.0	.	74	Q6FHJ7	SFRP4_HUMAN	C	74	ENSP00000410715:R74C	ENSP00000410715:R74C	R	-	1	0	SFRP4	37922445	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	3.048000	0.49862	2.251000	0.74343	0.650000	0.86243	CGC	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000220017.2		-	ENST00000436072.2	Missense_Mutation	SNP	7 : 37955920 - 37955920 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	344	41
G3BP1	10146	broad.mit.edu	37	5	151166218	151166218	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151166218C>T	ENST00000394123.3	+	2	182	c.37C>T	c.(37-39)Cgg>Tgg	p.R13W	G3BP1_ENST00000543466.1_5'UTR|G3BP1_ENST00000356245.3_Missense_Mutation_p.R13W			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	13	NTF2.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			GCTGGTCGGGCGGGAATTTGT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	137	138			NA	NA	5		NA											NA				151166218		2203	4300	6503	SO:0001583	missense			BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907	10146	10146		RNA binding motif (RRM) containing	30292	protein-coding gene	gene with protein product	Ras-GTPase-activating protein SH3-domain-binding protein	608431			NA	8649363, 9889278	Standard	NM_005754	NM_005754	NA	Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.37C>T	5.37:g.151166218C>T	ENSP00000377681:p.Arg13Trp	NA		37	CCDS4319.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374603	0.82573	.	.	ENSG00000145907	ENST00000523519;ENST00000520578;ENST00000394123;ENST00000356245;ENST00000507878;ENST00000274596;ENST00000520006	T;T	0.71103	-0.54;-0.54	5.05	3.25	0.37280	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.000000	0.85682	D	0.000000	T	0.76321	0.3971	L	0.45352	1.415	0.80722	D	1	D;B	0.89917	1.0;0.151	D;B	0.69824	0.966;0.02	T	0.76323	-0.3001	10	0.72032	D	0.01	-12.1306	11.0913	0.48117	0.0:0.8489:0.0:0.1511	.	13;13	E5RJU8;Q13283	.;G3BP1_HUMAN	W	13	ENSP00000377681:R13W;ENSP00000348578:R13W	ENSP00000274596:R13W	R	+	1	2	G3BP1	151146411	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.519000	0.60517	0.641000	0.30601	0.491000	0.48974	CGG	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252431.1		+	ENST00000394123.3	Missense_Mutation	SNP	5 : 151166218 - 151166218 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	725	64
SCARB2	950	broad.mit.edu	37	4	77084388	77084388	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77084388G>A	ENST00000452464.2	-	8	1018	c.959C>T	c.(958-960)tCc>tTc	p.S320F	SCARB2_ENST00000264896.2_Missense_Mutation_p.S463F	NM_001204255.1	NP_001191184.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	463					cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			CTCATCCATGGATCCCTGTCC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													182	160	167			NA	NA	4		NA											NA				77084388		2203	4300	6503	SO:0001583	missense			D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760	950	950			1665	protein-coding gene	gene with protein product		602257	CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)	CD36L2	NA	1374238	Standard	NM_005506	NM_005506	NA	Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000452464.2:c.959C>T	4.37:g.77084388G>A	ENSP00000399154:p.Ser320Phe	NA		37	CCDS56335.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.294914	0.40594	.	.	ENSG00000138760	ENST00000264896;ENST00000452464	T;D	0.90563	-0.32;-2.69	5.87	5.03	0.67393	.	0.439500	0.26899	N	0.021921	D	0.84786	0.5549	L	0.29908	0.895	0.29519	N	0.853613	B;B	0.18310	0.027;0.005	B;B	0.12156	0.007;0.004	T	0.79492	-0.1781	10	0.51188	T	0.08	.	12.2472	0.54576	0.0795:0.0:0.9205:0.0	.	320;463	E7EM68;Q14108	.;SCRB2_HUMAN	F	463;320	ENSP00000264896:S463F;ENSP00000399154:S320F	ENSP00000264896:S463F	S	-	2	0	SCARB2	77303412	0.976000	0.34144	0.992000	0.48379	0.714000	0.41099	2.816000	0.48026	1.489000	0.48450	0.655000	0.94253	TCC	SCARB2-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362702.1		-	ENST00000452464.2	Missense_Mutation	SNP	4 : 77084388 - 77084388 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	442	22
NCAPD2	9918	broad.mit.edu	37	12	6637024	6637024	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6637024C>T	ENST00000315579.5	+	23	3788	c.2989C>T	c.(2989-2991)Cgt>Tgt	p.R997C	NCAPD2_ENST00000545962.1_Missense_Mutation_p.R952C|NCAPD2_ENST00000542492.1_3'UTR	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	997					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	p.R997C(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						AGAACTAATCCGTGGCATCTG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											132	132	132			NA	NA	12		NA											NA				6637024		2203	4300	6503	SO:0001583	missense			D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292	9918	9918			24305	protein-coding gene	gene with protein product	chromosome condensation related SMC associated protein 1	615638			NA	8590280, 10958694	Standard	NM_014865	NM_014865	NA	Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.2989C>T	12.37:g.6637024C>T	ENSP00000325017:p.Arg997Cys	NA	D3DUR4|Q8N6U3	37	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.050528	0.55218	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.14022	2.54;2.54;2.54	5.95	5.95	0.96441	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.38321	0.1036	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;0.99;0.999	D;P;P	0.68765	0.96;0.677;0.863	T	0.05550	-1.0878	10	0.59425	D	0.04	-16.4149	15.1469	0.72662	0.1412:0.8588:0.0:0.0	.	952;958;997	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	C	997;869;952;869	ENSP00000325017:R997C;ENSP00000371895:R869C;ENSP00000444417:R952C	ENSP00000325017:R997C	R	+	1	0	NCAPD2	6507285	1.000000	0.71417	0.954000	0.39281	0.127000	0.20565	3.691000	0.54720	2.824000	0.97209	0.655000	0.94253	CGT	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399964.1		+	ENST00000315579.5	Missense_Mutation	SNP	12 : 6637024 - 6637024 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	812	128
METTL21C	196541	broad.mit.edu	37	13	103338488	103338488	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103338488C>T	ENST00000267273.6	-	4	693	c.688G>A	c.(688-690)Gac>Aac	p.D230N		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	230							methyltransferase activity	p.D230N(1)		breast(1)|large_intestine(3)|lung(2)|skin(1)	7						AATTCATAGTCGGTGCTGAAC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											69	65	67			NA	NA	13		NA											NA				103338488		2203	4300	6503	SO:0001583	missense				CCDS32003.1	13q33.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000139780	ENSG00000139780	196541	196541			33717	protein-coding gene	gene with protein product		615259	chromosome 13 open reading frame 39	C13orf39	NA		Standard	NM_001010977	NM_001010977	NA	Approved	LOC196541	uc001vpj.4	Q5VZV1	OTTHUMG00000017304	ENST00000267273.6:c.688G>A	13.37:g.103338488C>T	ENSP00000267273:p.Asp230Asn	NA		37	CCDS32003.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000631	0.93227	.	.	ENSG00000139780	ENST00000267273	T	0.08634	3.07	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.38321	0.1036	M	0.88979	2.995	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.31308	-0.9948	10	0.59425	D	0.04	-6.6016	19.7905	0.96454	0.0:1.0:0.0:0.0	.	230	Q5VZV1	MT21C_HUMAN	N	230	ENSP00000267273:D230N	ENSP00000267273:D230N	D	-	1	0	METTL21C	102136489	1.000000	0.71417	0.378000	0.26068	0.814000	0.46013	7.447000	0.80620	2.691000	0.91804	0.650000	0.86243	GAC	METTL21C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045682.2		-	ENST00000267273.6	Missense_Mutation	SNP	13 : 103338488 - 103338488 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	200	33
ADRBK1	156	broad.mit.edu	37	11	67049022	67049022	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67049022G>A	ENST00000308595.5	+	9	1030	c.740G>A	c.(739-741)aGc>aAc	p.S247N	ADRBK1_ENST00000526285.1_Missense_Mutation_p.S247N	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	247	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TCGCTCGTCAGCACTGGGGTG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	46	47			NA	NA	11		NA											NA				67049022		2200	4295	6495	SO:0001583	missense			X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020	156	156		Pleckstrin homology (PH) domain containing	289	protein-coding gene	gene with protein product		109635			NA	2037065	Standard	NM_001619	NM_001619	NA	Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.740G>A	11.37:g.67049022G>A	ENSP00000312262:p.Ser247Asn	NA	B0ZBE1|Q13837|Q6GTT3	37	CCDS8156.1	.	.	.	.	.	.	.	.	.	.	G	7.651	0.682851	0.14907	.	.	ENSG00000173020	ENST00000308595;ENST00000526285	T;T	0.64618	-0.11;-0.11	5.0	5.0	0.66597	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.47229	0.1434	N	0.20530	0.585	0.58432	D	0.999996	B;B	0.22604	0.072;0.023	B;B	0.28139	0.086;0.032	T	0.43861	-0.9365	10	0.02654	T	1	-15.598	18.674	0.91523	0.0:0.0:1.0:0.0	.	247;247	P25098;E9PRV7	ARBK1_HUMAN;.	N	247	ENSP00000312262:S247N;ENSP00000434126:S247N	ENSP00000312262:S247N	S	+	2	0	ADRBK1	66805598	1.000000	0.71417	1.000000	0.80357	0.027000	0.11550	9.008000	0.93601	2.493000	0.84123	0.591000	0.81541	AGC	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393153.1		+	ENST00000308595.5	Missense_Mutation	SNP	11 : 67049022 - 67049022 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	338	14
PTPRT	11122	broad.mit.edu	37	20	41420011	41420011	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:41420011C>T	ENST00000373198.4	-	3	545	c.310G>A	c.(310-312)Gac>Aac	p.D104N	PTPRT_ENST00000373201.1_Missense_Mutation_p.D104N|PTPRT_ENST00000373190.1_Missense_Mutation_p.D104N|PTPRT_ENST00000373187.1_Missense_Mutation_p.D104N|PTPRT_ENST00000373184.1_Missense_Mutation_p.D104N|PTPRT_ENST00000356100.2_Missense_Mutation_p.D104N|PTPRT_ENST00000373193.3_Missense_Mutation_p.D104N	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	NA	MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TAATGGAAGTCGATGCAGTGG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	57	56			NA	NA	20		NA											NA				41420011		1947	4162	6109	SO:0001583	missense			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090	11122	11122		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	9682	protein-coding gene	gene with protein product		608712			NA	9486824, 9602027	Standard		NM_133170	NA	Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373198.4:c.310G>A	20.37:g.41420011C>T	ENSP00000362294:p.Asp104Asn	NA	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	37		.	.	.	.	.	.	.	.	.	.	C	19.21	3.783982	0.70222	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.02121	4.44;4.44;4.44;4.44;4.44;4.44;4.44	5.67	5.67	0.87782	Concanavalin A-like lectin/glucanase (1);MAM domain (5);	0.051333	0.85682	D	0.000000	T	0.03915	0.0110	L	0.48642	1.525	0.58432	D	0.999993	B;B	0.30563	0.242;0.285	B;B	0.25614	0.037;0.062	T	0.47142	-0.9140	10	0.66056	D	0.02	.	19.7626	0.96329	0.0:1.0:0.0:0.0	.	104;104	O14522-1;O14522	.;PTPRT_HUMAN	N	104	ENSP00000362286:D104N;ENSP00000362283:D104N;ENSP00000362289:D104N;ENSP00000348408:D104N;ENSP00000362294:D104N;ENSP00000362280:D104N;ENSP00000362297:D104N	ENSP00000348408:D104N	D	-	1	0	PTPRT	40853425	0.996000	0.38824	0.996000	0.52242	0.959000	0.62525	3.318000	0.51975	2.676000	0.91093	0.561000	0.74099	GAC	PTPRT-005	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000080318.2		-	ENST00000373198.4	Missense_Mutation	SNP	20 : 41420011 - 41420011 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	298	62
HGFAC	3083	broad.mit.edu	37	4	3446679	3446679	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3446679C>T	ENST00000382774.3	+	8	1090	c.975C>T	c.(973-975)ggC>ggT	p.G325G	HGFAC_ENST00000511533.1_Silent_p.G325G	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	325	Kringle.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		ACTCCGTGGGCGCCGCGGCCC	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	17	16			NA	NA	4		NA											NA				3446679		2190	4289	6479	SO:0001819	synonymous_variant			D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3083	3083	3.4.21.-		4894	protein-coding gene	gene with protein product		604552			NA	7683665, 8226803	Standard		XM_005247966	NA	Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.975C>T	4.37:g.3446679C>T		NA	Q14726|Q2M1W7|Q53X47	37	CCDS3369.1																																																																																			HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206607.3		+	ENST00000382774.3	Silent	SNP	4 : 3446679 - 3446679 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	140	29
TMEM59L	25789	broad.mit.edu	37	19	18724721	18724721	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18724721G>A	ENST00000600490.1	+	3	396	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	TMEM59L_ENST00000262817.3_Missense_Mutation_p.A71T			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	71						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						CTATGACAGAGCCGTTCTGAT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	50	47			NA	NA	19		NA											NA				18724721		2203	4300	6503	SO:0001583	missense			AF186264	CCDS12383.1	19p12	2008-02-05	2007-03-14	2007-03-14		ENSG00000105696	25789	25789			13237	protein-coding gene	gene with protein product			chromosome 19 open reading frame 4	C19orf4	NA	10527841	Standard		NM_012109	NA	Approved	BSMAP	uc002njy.4	Q9UK28		ENST00000600490.1:c.211G>A	19.37:g.18724721G>A	ENSP00000470879:p.Ala71Thr	NA		37	CCDS12383.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377042	0.61735	.	.	ENSG00000105696	ENST00000262817	T	0.46451	0.87	4.14	4.14	0.48551	.	0.124651	0.56097	D	0.000022	T	0.48095	0.1481	L	0.54323	1.7	0.29756	N	0.835919	D	0.63880	0.993	P	0.55508	0.777	T	0.48387	-0.9040	10	0.48119	T	0.1	-21.1015	8.338	0.32225	0.1127:0.0:0.8873:0.0	.	71	Q9UK28	TM59L_HUMAN	T	71	ENSP00000262817:A71T	ENSP00000262817:A71T	A	+	1	0	TMEM59L	18585721	0.608000	0.26966	0.124000	0.21820	0.030000	0.12068	2.480000	0.45206	1.997000	0.58415	0.561000	0.74099	GCC	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465143.2		+	ENST00000600490.1	Missense_Mutation	SNP	19 : 18724721 - 18724721 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	665	112
ASXL2	55252	broad.mit.edu	37	2	25973170	25973170	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25973170G>A	ENST00000435504.4	-	12	1548	c.1255C>T	c.(1255-1257)Ctt>Ttt	p.L419F	ASXL2_ENST00000272341.4_Missense_Mutation_p.L159F|ASXL2_ENST00000336112.4_Missense_Mutation_p.L391F|ASXL2_ENST00000404843.1_Missense_Mutation_p.L159F			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTCTGATAAGAGAGGCCTCT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													255	243	246			NA	NA	2		NA											NA				25973170		1862	4111	5973	SO:0001583	missense					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970	55252	55252			23805	protein-coding gene	gene with protein product		612991	additional sex combs like 2 (Drosophila)		NA	12888926	Standard	NM_018263	NM_018263	NA	Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.1255C>T	2.37:g.25973170G>A	ENSP00000391447:p.Leu419Phe	NA	Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	37		.	.	.	.	.	.	.	.	.	.	G	10.66	1.412728	0.25465	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	5.79	3.93	0.45458	.	0.556047	0.19778	N	0.106299	T	0.09069	0.0224	N	0.08118	0	0.22305	N	0.999212	B;P	0.44877	0.379;0.845	B;B	0.41619	0.082;0.361	T	0.11717	-1.0576	10	0.45353	T	0.12	-0.6765	8.2328	0.31608	0.082:0.0:0.7593:0.1587	.	159;419	Q76L83-2;Q76L83	.;ASXL2_HUMAN	F	419;391;159;159	ENSP00000391447:L419F;ENSP00000337250:L391F;ENSP00000383920:L159F;ENSP00000272341:L159F	ENSP00000272341:L159F	L	-	1	0	ASXL2	25826674	0.394000	0.25246	0.851000	0.33527	0.251000	0.25915	2.011000	0.40922	1.381000	0.46364	0.591000	0.81541	CTT	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000325593.3		-	ENST00000435504.4	Missense_Mutation	SNP	2 : 25973170 - 25973170 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1438	252
MFAP4	4239	broad.mit.edu	37	17	19289705	19289705	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19289705C>T	ENST00000395592.2	-	3	301	c.230G>A	c.(229-231)gGc>gAc	p.G77D	MFAP4_ENST00000497081.2_Missense_Mutation_p.G78D|MFAP4_ENST00000299610.4_Missense_Mutation_p.G53D	NM_001198695.1	NP_001185624.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	53	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding			large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GAGGTACACGCCGTCTGACTG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	66	73			NA	NA	17		NA											NA				19289705		2203	4300	6503	SO:0001583	missense			L38486	CCDS11208.1, CCDS56023.1	17p11.2	2013-02-06			ENSG00000166482	ENSG00000166482	4239	4239		Fibrinogen C domain containing	7035	protein-coding gene	gene with protein product	microfibril-associated glycoprotein 4	600596			NA	7633408	Standard	NM_002404	NM_001198695	NA	Approved		uc002gvs.3	P55083	OTTHUMG00000059585	ENST00000395592.2:c.230G>A	17.37:g.19289705C>T	ENSP00000378957:p.Gly77Asp	NA	A8KAJ1|Q6P680	37	CCDS56023.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716638	0.89205	.	.	ENSG00000166482	ENST00000395592;ENST00000299610	T;T	0.35973	1.28;1.28	5.3	5.3	0.74995	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.64402	D	0.000010	T	0.63189	0.2490	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.66846	-0.5820	10	0.59425	D	0.04	.	16.5105	0.84283	0.0:1.0:0.0:0.0	.	53;77	P55083;A8MVM2	MFAP4_HUMAN;.	D	77;53	ENSP00000378957:G77D;ENSP00000299610:G53D	ENSP00000299610:G53D	G	-	2	0	MFAP4	19230298	1.000000	0.71417	0.939000	0.37840	0.784000	0.44337	7.083000	0.76859	2.499000	0.84300	0.555000	0.69702	GGC	MFAP4-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132547.3		-	ENST00000395592.2	Missense_Mutation	SNP	17 : 19289705 - 19289705 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	175	36
DLEC1	9940	broad.mit.edu	37	3	38105386	38105386	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38105386T>A	ENST00000308059.6	+	6	1170	c.1149T>A	c.(1147-1149)gaT>gaA	p.D383E	DLEC1_ENST00000452631.2_Missense_Mutation_p.D383E|DLEC1_ENST00000346219.3_Missense_Mutation_p.D383E|DLEC1_ENST00000469151.1_3'UTR			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	383					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TTTTCACAGATTATGAAATTG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													173	163	166			NA	NA	3		NA											NA				38105386		1835	4090	5925	SO:0001583	missense			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226	9940	9940			2899	protein-coding gene	gene with protein product	cilia and flagella associated protein 81	604050			NA	10213508	Standard	NM_007337	XM_005265630	NA	Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.1149T>A	3.37:g.38105386T>A	ENSP00000308597:p.Asp383Glu	NA	Q9NSW0|Q9NTG5	37	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	T	14.23	2.471952	0.43942	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.06608	3.29;3.28;3.51	4.67	3.52	0.40303	.	0.104304	0.64402	D	0.000006	T	0.07773	0.0195	L	0.53249	1.67	0.42793	D	0.993903	P;P;P;P	0.47604	0.811;0.898;0.735;0.898	B;B;B;B	0.43658	0.331;0.426;0.331;0.426	T	0.31779	-0.9931	10	0.33940	T	0.23	-13.2537	6.7698	0.23587	0.0:0.1057:0.0:0.8943	.	383;383;383;383	A1L305;F8W6T4;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	E	383	ENSP00000308597:D383E;ENSP00000315914:D383E;ENSP00000410427:D383E	ENSP00000308597:D383E	D	+	3	2	DLEC1	38080390	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	0.526000	0.22971	0.813000	0.34350	0.528000	0.53228	GAT	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253745.3		+	ENST00000308059.6	Missense_Mutation	SNP	3 : 38105386 - 38105386 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	883	166
DNAAF2	55172	broad.mit.edu	37	14	50092390	50092390	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50092390A>G	ENST00000298292.8	-	3	2464	c.2384T>C	c.(2383-2385)gTt>gCt	p.V795A	DNAAF2_ENST00000406043.3_Missense_Mutation_p.V747A	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	795					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm				kidney(1)|lung(4)	5						TATATTGTGAACCGTAGTTTT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													193	177	183			NA	NA	14		NA											NA				50092390		2203	4300	6503	SO:0001583	missense			AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506	NA	55172			20188	protein-coding gene	gene with protein product	kintoun	612517	chromosome 14 open reading frame 104	C14orf104	NA		Standard		NM_001083908	NA	Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.2384T>C	14.37:g.50092390A>G	ENSP00000298292:p.Val795Ala	NA	B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	37	CCDS9691.2	.	.	.	.	.	.	.	.	.	.	A	9.287	1.049545	0.19827	.	.	ENSG00000165506	ENST00000298292;ENST00000406043	T;T	0.15372	2.43;2.43	5.17	4.03	0.46877	.	0.537427	0.17595	N	0.168625	T	0.16085	0.0387	L	0.57536	1.79	0.19945	N	0.999945	B;B	0.27351	0.172;0.176	B;B	0.25884	0.059;0.064	T	0.16867	-1.0388	10	0.32370	T	0.25	.	7.0326	0.24975	0.8197:0.0:0.1803:0.0	.	747;795	Q9NVR5-2;Q9NVR5	.;KTU_HUMAN	A	795;747	ENSP00000298292:V795A;ENSP00000384862:V747A	ENSP00000298292:V795A	V	-	2	0	DNAAF2	49162140	0.008000	0.16893	0.730000	0.30809	0.355000	0.29361	-0.127000	0.10547	1.077000	0.40990	0.451000	0.29950	GTT	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276813.1		-	ENST00000298292.8	Missense_Mutation	SNP	14 : 50092390 - 50092390 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	269	29
TNIP3	79931	broad.mit.edu	37	4	122075755	122075755	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122075755G>A	ENST00000057513.3	-	5	657	c.443C>T	c.(442-444)gCg>gTg	p.A148V	TNIP3_ENST00000454328.1_Missense_Mutation_p.A148V|TNIP3_ENST00000509841.1_Missense_Mutation_p.A225V|TNIP3_ENST00000507879.1_Missense_Mutation_p.A218V	NM_024873.5	NP_079149.3	Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	148										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						TTCCTTGTTCGCAAGAGTATT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	166	153	157		443,443	-5.2	0	4		157	2,8596	2.2+/-6.3	0,2,4297	no	missense,missense	TNIP3	NM_001128843.2,NM_024873.5	64,64	0,2,6500	AA,AG,GG	NA	0.0233,0.0,0.0154	benign,benign	148/326,148/326	122075755	2,13002	2203	4299	6502	SO:0001583	missense			AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730	79931	79931			19315	protein-coding gene	gene with protein product		608019			NA	11345586	Standard	NM_024873	NM_024873	NA	Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000057513.3:c.443C>T	4.37:g.122075755G>A	ENSP00000057513:p.Ala148Val	NA	A1A574|A8K2Z4|Q96PQ3|Q9H780	37	CCDS3718.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.516059	0.00151	0.0	2.33E-4	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	T;T;T;T	0.61627	0.09;0.09;0.09;0.09	4.71	-5.17	0.02849	.	1.828580	0.02425	N	0.082965	T	0.28632	0.0709	N	0.03948	-0.315	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.18999	-1.0319	10	0.13108	T	0.6	0.2705	6.6311	0.22857	0.5605:0.0:0.2377:0.2018	.	218;148;148	B4DVF5;A5HU65;Q96KP6	.;.;TNIP3_HUMAN	V	148;148;218;225	ENSP00000057513:A148V;ENSP00000411817:A148V;ENSP00000427106:A218V;ENSP00000426613:A225V	ENSP00000057513:A148V	A	-	2	0	TNIP3	122295205	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.129000	0.10515	-1.090000	0.03069	-2.455000	0.00206	GCG	TNIP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256527.2		-	ENST00000057513.3	Missense_Mutation	SNP	4 : 122075755 - 122075755 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	375	61
KRTAP13-4	284827	broad.mit.edu	37	21	31802628	31802628	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31802628C>T	ENST00000334068.2	+	1	57	c.35C>T	c.(34-36)tCc>tTc	p.S12F		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	12						intermediate filament				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						AACTTCTCCTCCCGCTCCTTT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(196;2401 3038 18004 35753)							NA				0													110	112	111			NA	NA	21		NA											NA				31802628		2203	4300	6503	SO:0001583	missense			AP001708	CCDS13592.1	21q22.1	2006-03-13			ENSG00000186971	ENSG00000186971	284827	284827		Keratin associated proteins	18926	protein-coding gene	gene with protein product					NA	12359730	Standard		NM_181600	NA	Approved	KAP13.4	uc011acw.2	Q3LI77	OTTHUMG00000057770	ENST00000334068.2:c.35C>T	21.37:g.31802628C>T	ENSP00000334834:p.Ser12Phe	NA	A2RRL3	37	CCDS13592.1	.	.	.	.	.	.	.	.	.	.	-	13.03	2.114494	0.37339	.	.	ENSG00000186971	ENST00000334068	T	0.09255	3.0	4.95	4.07	0.47477	.	0.174955	0.27052	U	0.021169	T	0.35941	0.0949	M	0.88450	2.955	0.30548	N	0.765701	D	0.89917	1.0	D	0.77004	0.989	T	0.45673	-0.9245	10	0.87932	D	0	.	10.1859	0.42998	0.0:0.9051:0.0:0.0949	.	12	Q3LI77	KR134_HUMAN	F	12	ENSP00000334834:S12F	ENSP00000334834:S12F	S	+	2	0	KRTAP13-4	30724499	0.030000	0.19436	0.837000	0.33122	0.029000	0.11900	1.872000	0.39549	1.394000	0.46624	0.650000	0.86243	TCC	KRTAP13-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128222.1		+	ENST00000334068.2	Missense_Mutation	SNP	21 : 31802628 - 31802628 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	743	150
A2ML1	144568	broad.mit.edu	37	12	9002321	9002321	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9002321T>C	ENST00000299698.7	+	17	2265	c.2085T>C	c.(2083-2085)agT>agC	p.S695S	A2ML1_ENST00000539547.1_Silent_p.S204S	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	539						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TAGATTGCAGTCACAGATCTC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	112	114			NA	NA	12		NA											NA				9002321		1895	4134	6029	SO:0001819	synonymous_variant			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535	144568	144568			23336	protein-coding gene	gene with protein product		610627	C3 and PZP-like, alpha-2-macroglobulin domain containing 9	CPAMD9	NA	16298998	Standard	NM_144670	NM_144670	NA	Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.2085T>C	12.37:g.9002321T>C		NA		37	CCDS8596.2																																																																																			A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250304.3		+	ENST00000299698.7	Silent	SNP	12 : 9002321 - 9002321 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	418	70
NFIC	4782	broad.mit.edu	37	19	3452485	3452485	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3452485G>A	ENST00000589123.1	+	8	1183	c.1063G>A	c.(1063-1065)Gcc>Acc	p.A355T	NFIC_ENST00000586919.1_Missense_Mutation_p.A331T|NFIC_ENST00000590282.1_Missense_Mutation_p.A364T|NFIC_ENST00000443272.2_Missense_Mutation_p.A364T|NFIC_ENST00000395111.3_Missense_Mutation_p.A355T|NFIC_ENST00000341919.3_Missense_Mutation_p.A364T|NFIC_ENST00000346156.5_Missense_Mutation_p.A331T	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	364					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CGCAGGGATCGCCCGGAGCCC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	160	161			NA	NA	19		NA											NA				3452485		2203	4300	6503	SO:0001583	missense			X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905	4782	4782			7786	protein-coding gene	gene with protein product		600729		NFI	NA	3398920, 7590749	Standard	NM_005597	NM_205843	NA	Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000589123.1:c.1063G>A	19.37:g.3452485G>A	ENSP00000465655:p.Ala355Thr	NA	A8K1H0|B7Z9C3|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	37	CCDS45914.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.665287	0.29604	.	.	ENSG00000141905	ENST00000443272;ENST00000395111;ENST00000346156;ENST00000341919;ENST00000343825;ENST00000269778	T;T;T	0.46063	0.88;0.88;0.88	4.16	3.12	0.35913	.	0.208639	0.40908	N	0.001000	T	0.30634	0.0771	L	0.39020	1.185	0.28084	N	0.932087	B;B;B;B;B	0.23377	0.044;0.084;0.007;0.007;0.017	B;B;B;B;B	0.17979	0.01;0.02;0.004;0.004;0.012	T	0.15521	-1.0434	10	0.30078	T	0.28	.	10.8694	0.46875	0.0944:0.0:0.9056:0.0	.	364;364;355;364;355	B7Z4U5;P08651;P08651-3;P08651-5;P08651-2	.;NFIC_HUMAN;.;.;.	T	355;355;331;364;364;364	ENSP00000378543:A355T;ENSP00000301935:A331T;ENSP00000342194:A364T	ENSP00000269778:A364T	A	+	1	0	NFIC	3403485	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	2.666000	0.46799	0.757000	0.33036	-0.226000	0.12346	GCC	NFIC-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452784.3		+	ENST00000589123.1	Missense_Mutation	SNP	19 : 3452485 - 3452485 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	2005	371
WDR61	80349	broad.mit.edu	37	15	78585111	78585111	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78585111G>T	ENST00000267973.2	-	5	437	c.166C>A	c.(166-168)Cta>Ata	p.L56I	WDR61_ENST00000558311.1_Missense_Mutation_p.L56I|WDR61_ENST00000558459.1_Intron			Q9GZS3	WDR61_HUMAN	WD repeat domain 61	56							protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						CTCCACTGTAGGTCCAGCCTC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	57	59			NA	NA	15		NA											NA				78585111		2196	4293	6489	SO:0001583	missense				CCDS10300.1	15q25.1	2013-01-09			ENSG00000140395	ENSG00000140395	80349	80349		WD repeat domain containing	30300	protein-coding gene	gene with protein product		609540			NA	12477932	Standard	NM_025234	NM_025234	NA	Approved	REC14	uc002bdn.3	Q9GZS3	OTTHUMG00000143735	ENST00000267973.2:c.166C>A	15.37:g.78585111G>T	ENSP00000267973:p.Leu56Ile	NA	D3DW84|Q6IA22|Q7Z4X4	37	CCDS10300.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036652	0.54896	.	.	ENSG00000140395	ENST00000267973	D	0.82255	-1.59	5.91	3.8	0.43715	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.77811	0.4186	L	0.49640	1.575	0.80722	D	1	B;B	0.26809	0.068;0.16	B;B	0.32533	0.141;0.147	T	0.73251	-0.4042	10	0.33940	T	0.23	-4.9475	8.9529	0.35801	0.1003:0.0:0.7482:0.1514	.	56;56	B4E387;Q9GZS3	.;WDR61_HUMAN	I	56	ENSP00000267973:L56I	ENSP00000267973:L56I	L	-	1	2	WDR61	76372166	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.389000	0.73199	1.484000	0.48361	0.655000	0.94253	CTA	WDR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000289803.3		-	ENST00000267973.2	Missense_Mutation	SNP	15 : 78585111 - 78585111 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	244	27
COL5A1	1289	broad.mit.edu	37	9	137653805	137653805	+	Missense_Mutation	SNP	C	C	T	rs149912828		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137653805C>T	ENST00000371817.3	+	19	2384	c.1970C>T	c.(1969-1971)cCg>cTg	p.P657L		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	657	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCAGGACCTCCGGGAGACGAT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0									LEU/PRO	0,4404		0,0,2202	109	100	103		1970	4.5	0.6	9	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL5A1	NM_000093.3	98	0,1,6501	TT,TC,CC	NA	0.0116,0.0,0.0077	possibly-damaging	657/1839	137653805	1,13003	2202	4300	6502	SO:0001583	missense			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635	1289	1289		Collagens	2209	protein-coding gene	gene with protein product	alpha 1 type V collagen	120215			NA	1572660	Standard	NM_000093	NM_001278074	NA	Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1970C>T	9.37:g.137653805C>T	ENSP00000360882:p.Pro657Leu	NA	Q15094|Q5SUX4	37	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	c	9.891	1.204150	0.22205	0.0	1.16E-4	ENSG00000130635	ENST00000371817	D	0.96685	-4.09	4.53	4.53	0.55603	.	0.152829	0.44688	U	0.000431	D	0.97835	0.9289	M	0.82823	2.61	0.51233	D	0.99991	D	0.89917	1.0	D	0.74023	0.982	D	0.98448	1.0590	10	0.87932	D	0	.	12.7642	0.57383	0.0:1.0:0.0:0.0	.	657	P20908	CO5A1_HUMAN	L	657	ENSP00000360882:P657L	ENSP00000360882:P657L	P	+	2	0	COL5A1	136793626	0.972000	0.33761	0.573000	0.28510	0.014000	0.08584	5.210000	0.65214	2.067000	0.61834	0.556000	0.70494	CCG	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054954.2		+	ENST00000371817.3	Missense_Mutation	SNP	9 : 137653805 - 137653805 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	402	26
RECK	8434	broad.mit.edu	37	9	36118895	36118895	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36118895G>A	ENST00000377966.3	+	18	2961	c.2395G>A	c.(2395-2397)Gtc>Atc	p.V799I		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	799						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GCACAGCTCCGTCGCCGAGTG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	77	80			NA	NA	9		NA											NA				36118895		2203	4300	6503	SO:0001583	missense			E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707	8434	8434			11345	protein-coding gene	gene with protein product		605227		ST15	NA	9789069	Standard		NM_021111	NA	Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.2395G>A	9.37:g.36118895G>A	ENSP00000367202:p.Val799Ile	NA	B2RNS1|Q5W0K6|Q8WX37	37	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	G	4.656	0.122028	0.08931	.	.	ENSG00000122707	ENST00000377966	T	0.43294	0.95	5.43	3.24	0.37175	.	0.428349	0.23164	N	0.051203	T	0.24198	0.0586	N	0.22421	0.69	0.09310	N	1	B;B	0.22414	0.069;0.069	B;B	0.12156	0.007;0.007	T	0.11275	-1.0594	10	0.21540	T	0.41	-5.8041	7.5195	0.27620	0.0:0.2918:0.4891:0.219	.	799;799	A8K9D8;O95980	.;RECK_HUMAN	I	799	ENSP00000367202:V799I	ENSP00000367202:V799I	V	+	1	0	RECK	36108895	0.665000	0.27466	0.017000	0.16124	0.059000	0.15707	1.935000	0.40173	1.388000	0.46506	0.655000	0.94253	GTC	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052409.1		+	ENST00000377966.3	Missense_Mutation	SNP	9 : 36118895 - 36118895 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	320	17
CPAMD8	27151	broad.mit.edu	37	19	17025595	17025595	+	Missense_Mutation	SNP	C	C	T	rs57249432	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17025595C>T	ENST00000443236.1	-	28	3830	c.3799G>A	c.(3799-3801)Gca>Aca	p.A1267T		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1220						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CGAGCCTGTGCGAAGGACTTC	0.612		NA											C	18	0.01	0.03	0.0028	2184	NA	0.9989	,	,	NA	0.003	0.0013	NA	NA	0.0086	0.9405	LOWCOV,EXOME	NA	NA	0.0289	SNP								NA				0								C	THR/ALA	74,3966		1,72,1947	34	37	36		3799	3	0.9	19	dbSNP_129	36	4,8368		0,4,4182	yes	missense	CPAMD8	NM_015692.2	58	1,76,6129	TT,TC,CC	NA	0.0478,1.8317,0.6284	probably-damaging	1267/1933	17025595	78,12334	2020	4186	6206	SO:0001583	missense			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111	27151	27151			23228	protein-coding gene	gene with protein product		608841			NA	10574462	Standard	NM_015692	NM_015692	NA	Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3799G>A	19.37:g.17025595C>T	ENSP00000402505:p.Ala1267Thr	NA	Q8NC09|Q9ULD7	37	CCDS42519.1	18	0.008241758241758242	16	0.032520325203252036	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	15.50	2.851872	0.51270	0.018317	4.78E-4	ENSG00000160111	ENST00000291440	.	.	.	3.04	3.04	0.35103	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.075725	0.52532	U	0.000062	T	0.55816	0.1944	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.71002	-0.4718	9	0.42905	T	0.14	.	14.0348	0.64638	0.0:1.0:0.0:0.0	rs57249432	1220	Q8IZJ3	CPMD8_HUMAN	T	1267	.	ENSP00000291440:A1267T	A	-	1	0	CPAMD8	16886595	1.000000	0.71417	0.949000	0.38748	0.249000	0.25844	3.483000	0.53194	1.265000	0.44215	0.555000	0.69702	GCA	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257531.2		-	ENST00000443236.1	Missense_Mutation	SNP	19 : 17025595 - 17025595 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	253	51
ST8SIA5	29906	broad.mit.edu	37	18	44336397	44336397	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44336397G>A	ENST00000315087.7	-	1	735	c.75C>T	c.(73-75)gcC>gcT	p.A25A	ST8SIA5_ENST00000536490.1_Silent_p.A25A|ST8SIA5_ENST00000538168.1_Silent_p.A25A	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	25					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CCAAGGCAAAGGCGCAGATGA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	103	105			NA	NA	18		NA											NA				44336397		2203	4300	6503	SO:0001819	synonymous_variant			U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638	29906	29906		Sialyltransferases	17827	protein-coding gene	gene with protein product	ST8Sia V	607162	sialyltransferase 8E (alpha-2, 8-polysialytransferase)	SIAT8E	NA	9199191	Standard	NM_013305	XM_005258250	NA	Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.75C>T	18.37:g.44336397G>A		NA	Q6IAW7	37	CCDS11930.1																																																																																			ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255892.1		-	ENST00000315087.7	Silent	SNP	18 : 44336397 - 44336397 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	476	73
VIMP	55829	broad.mit.edu	37	15	101813029	101813029	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101813029C>A	ENST00000398226.3	-	6	549	c.517G>T	c.(517-519)Gct>Tct	p.A173S	VIMP_ENST00000531964.1_Missense_Mutation_p.A150S|VIMP_ENST00000526049.1_Missense_Mutation_p.A173S|VIMP_ENST00000537379.1_Missense_Mutation_p.A173S					VCP-interacting membrane protein	NA											NA						CAGGAGCAAGCTCCGCCTCCT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	35	34			NA	NA	15		NA											NA				101813029		1944	4135	6079	SO:0001583	missense			AF328864	CCDS53979.1	15q26.3	2012-10-02			ENSG00000131871	ENSG00000131871	55829	55829			30396	protein-coding gene	gene with protein product	selenoprotein S	607918			NA	16227999, 16186510	Standard	NM_018445	NM_018445	NA	Approved	SELS, MGC2553, SBBI8, AD-015, SEPS1	uc021sxu.1	Q9BQE4	OTTHUMG00000166441	ENST00000398226.3:c.517G>T	15.37:g.101813029C>A	ENSP00000381282:p.Ala173Ser	NA		37	CCDS53979.1	.	.	.	.	.	.	.	.	.	.	C	1.305	-0.603680	0.03717	.	.	ENSG00000131871	ENST00000398226;ENST00000537379;ENST00000531964;ENST00000526049;ENST00000528346	.	.	.	5.71	-5.46	0.02608	.	0.477530	0.24912	N	0.034609	T	0.09069	0.0224	N	0.03324	-0.35	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.27706	-1.0066	9	0.02654	T	1	-1.1801	5.2364	0.15448	0.2061:0.3139:0.0:0.48	.	173;173	Q6GYA4;Q9BQE4	.;SELS_HUMAN	S	173;173;150;173;213	.	ENSP00000381282:A173S	A	-	1	0	AC023024.1	99630552	0.001000	0.12720	0.001000	0.08648	0.603000	0.37013	-1.496000	0.02291	-1.379000	0.02118	-0.946000	0.02672	GCT	VIMP-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	NA	protein_coding	OTTHUMT00000389784.2		-	ENST00000398226.3	Missense_Mutation	SNP	15 : 101813029 - 101813029 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	78	12
XKR9	389668	broad.mit.edu	37	8	71619372	71619372	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71619372A>C	ENST00000408926.3	+	4	1011	c.477A>C	c.(475-477)caA>caC	p.Q159H	XKR9_ENST00000520030.1_Missense_Mutation_p.Q159H|XKR9_ENST00000520273.1_3'UTR	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	159						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			AGCATGGACAAGCGAATTTCA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	124	128			NA	NA	8		NA											NA				71619372		2203	4300	6503	SO:0001583	missense			AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947	389668	389668			20937	protein-coding gene	gene with protein product			X Kell blood group precursor-related family, member 9		NA		Standard	NM_001011720	NM_001287258	NA	Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.477A>C	8.37:g.71619372A>C	ENSP00000386141:p.Gln159His	NA	B2RNS9|B9EH74	37	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	A	7.060	0.566116	0.13560	.	.	ENSG00000221947	ENST00000408926;ENST00000520030	T;T	0.64803	-0.12;-0.12	5.03	2.7	0.31948	.	0.643829	0.15516	N	0.258289	T	0.48352	0.1495	L	0.53249	1.67	0.09310	N	1	P	0.38223	0.623	B	0.36186	0.219	T	0.45440	-0.9261	10	0.39692	T	0.17	-0.0441	0.6152	0.00768	0.4631:0.1745:0.1943:0.1681	.	159	Q5GH70	XKR9_HUMAN	H	159	ENSP00000386141:Q159H;ENSP00000431088:Q159H	ENSP00000386141:Q159H	Q	+	3	2	XKR9	71781926	0.009000	0.17119	0.011000	0.14972	0.479000	0.33129	0.593000	0.23999	0.781000	0.33589	0.460000	0.39030	CAA	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378752.1		+	ENST00000408926.3	Missense_Mutation	SNP	8 : 71619372 - 71619372 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	402	15
SLC7A7	9056	broad.mit.edu	37	14	23282626	23282626	+	Translation_Start_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23282626C>A	ENST00000397532.3	-	0	507				SLC7A7_ENST00000397528.4_De_novo_Start_OutOfFrame|SLC7A7_ENST00000554517.1_Intron|SLC7A7_ENST00000397529.2_De_novo_Start_OutOfFrame|SLC7A7_ENST00000285850.7_De_novo_Start_OutOfFrame|SLC7A7_ENST00000555702.1_De_novo_Start_OutOfFrame			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	NA					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		AGAGGAAACCCTTCACCAGCT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	37	39			NA	NA	14		NA											NA				23282626		2147	4202	6349					AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465	9056	9056		Solute carriers	11065	protein-coding gene	gene with protein product		603593		LPI	NA	9829974	Standard		NM_001126106	NA	Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.-19G>T	14.37:g.23282626C>A		NA	B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	37	CCDS9574.1																																																																																			SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071636.3		-	ENST00000397532.3	De_novo_Start_OutOfFrame	SNP	14 : 23282626 - 23282626 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	266	10
PCNXL3	399909	broad.mit.edu	37	11	65394998	65394998	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65394998G>A	ENST00000355703.3	+	22	4186	c.3647G>A	c.(3646-3648)cGc>cAc	p.R1216H		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1216						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GACTACCCGCGCCTCTCCCAG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	0,4100		0,0,2050	175	174	174		3647	5.5	1	11		174	1,8367		0,1,4183	no	missense	PCNXL3	NM_032223.2	29	0,1,6233	AA,AG,GG	NA	0.012,0.0,0.0080	benign	1216/2035	65394998	1,12467	2050	4184	6234	SO:0001583	missense			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136	399909	399909			18760	protein-coding gene	gene with protein product					NA	15146197	Standard	NM_032223	NM_032223	NA	Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.3647G>A	11.37:g.65394998G>A	ENSP00000347931:p.Arg1216His	NA	Q6MZN8	37	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.725067	0.48833	0.0	1.2E-4	ENSG00000197136	ENST00000355703	T	0.06528	3.29	5.47	5.47	0.80525	.	0.181068	0.47455	D	0.000239	T	0.02533	0.0077	N	0.00926	-1.1	0.29813	N	0.831469	B;B	0.16166	0.005;0.016	B;B	0.11329	0.006;0.001	T	0.31668	-0.9935	10	0.09590	T	0.72	.	17.22	0.86955	0.0:0.0:1.0:0.0	.	103;1216	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	H	1216	ENSP00000347931:R1216H	ENSP00000347931:R1216H	R	+	2	0	PCNXL3	65151574	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.852000	0.55934	2.735000	0.93741	0.655000	0.94253	CGC	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390321.1		+	ENST00000355703.3	Missense_Mutation	SNP	11 : 65394998 - 65394998 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1082	206
WDR24	84219	broad.mit.edu	37	16	739280	739280	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:739280G>A	ENST00000293883.4	-	1	1120	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	WDR24_ENST00000248142.6_Missense_Mutation_p.R183C	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN	WD repeat domain 24	183										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				TTTACCGTGCGCTTGTGTTCT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	100	111			NA	NA	16		NA											NA				739280		2200	4300	6500	SO:0001583	missense			AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580	84219	84219		WD repeat domain containing	20852	protein-coding gene	gene with protein product			chromosome 16 open reading frame 21	C16orf21	NA	11230166	Standard	NM_032259	NM_032259	NA	Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000293883.4:c.361C>T	16.37:g.739280G>A	ENSP00000293883:p.Arg121Cys	NA	A2IDB8|D3DU59|Q96GC7|Q9H0B7	37	CCDS10420.1	.	.	.	.	.	.	.	.	.	.	g	33	5.223778	0.95139	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	T;T	0.60548	0.18;0.18	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.74928	0.3781	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76748	-0.2845	10	0.56958	D	0.05	-15.7029	17.5824	0.87972	0.0:0.0:1.0:0.0	.	121	Q96S15-2	.	C	183;121	ENSP00000248142:R183C;ENSP00000293883:R121C	ENSP00000248142:R183C	R	-	1	0	WDR24	679281	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.132000	0.94455	2.391000	0.81399	0.561000	0.74099	CGC	WDR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206852.1		-	ENST00000293883.4	Missense_Mutation	SNP	16 : 739280 - 739280 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	282	48
PRSS55	203074	broad.mit.edu	37	8	10383150	10383150	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10383150G>A	ENST00000522210.1	+	1	95	c.55G>A	c.(55-57)Ggt>Agt	p.G19S	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000328655.3_Missense_Mutation_p.G19S	NM_001197020.1	NP_001183949.1	Q6UWB4	PRS55_HUMAN	protease, serine, 55	19					proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						AACTCAGCTCGGTCCACGGAC	0.677		NA											G	1	5e-04	NA	NA	2184	0.0017	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9135	EXOME	NA	NA	3e-04	SNP								NA				0													80	66	71			NA	NA	8		NA											NA				10383150		2203	4300	6503	SO:0001583	missense			AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647	203074	203074		Serine peptidases / Serine peptidases	30824	protein-coding gene	gene with protein product		615144			NA	12975309, 18844450	Standard	NM_198464	NM_198464	NA	Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000522210.1:c.55G>A	8.37:g.10383150G>A	ENSP00000430459:p.Gly19Ser	NA		37	CCDS56523.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	4.148	0.025788	0.08054	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.87887	-2.31;-2.29	3.39	0.607	0.17564	.	.	.	.	.	T	0.71904	0.3395	N	0.08118	0	0.09310	N	1	B	0.24483	0.104	B	0.23275	0.045	T	0.60939	-0.7163	9	0.51188	T	0.08	.	6.7064	0.23252	0.1156:0.1717:0.7127:0.0	.	19	Q6UWB4	PRS55_HUMAN	S	19	ENSP00000333003:G19S;ENSP00000430459:G19S	ENSP00000333003:G19S	G	+	1	0	PRSS55	10420560	0.566000	0.26618	0.024000	0.17045	0.000000	0.00434	0.525000	0.22956	0.103000	0.17682	-2.793000	0.00115	GGT	PRSS55-003	KNOWN	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375671.1		+	ENST00000522210.1	Missense_Mutation	SNP	8 : 10383150 - 10383150 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	279	55
SPERT	220082	broad.mit.edu	37	13	46276968	46276968	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46276968C>T	ENST00000310521.1	+	2	214	c.134C>T	c.(133-135)cCa>cTa	p.P45L		NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	45						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CTAGAAATTCCAATCAGTGTG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	59	59			NA	NA	13		NA											NA				46276968		2203	4300	6503	SO:0001583	missense			AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015	220082	220082			30720	protein-coding gene	gene with protein product	spermatid flower-like structure protein, testis specific leucine zipper protein nurit, chibby homolog 2 (Drosophila)				NA	12204287, 20096028	Standard	NM_152719	NM_001286341	NA	Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.134C>T	13.37:g.46276968C>T	ENSP00000309189:p.Pro45Leu	NA	A8K8I5|Q8NHV2	37	CCDS9399.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693050	0.68271	.	.	ENSG00000174015	ENST00000310521	T	0.58358	0.34	4.46	4.46	0.54185	.	0.180171	0.27654	N	0.018417	T	0.61426	0.2346	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.59783	-0.7389	10	0.48119	T	0.1	.	12.9338	0.58303	0.0:1.0:0.0:0.0	.	45	Q8NA61	SPERT_HUMAN	L	45	ENSP00000309189:P45L	ENSP00000309189:P45L	P	+	2	0	SPERT	45174969	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.018000	0.49625	2.753000	0.94483	0.655000	0.94253	CCA	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044786.2		+	ENST00000310521.1	Missense_Mutation	SNP	13 : 46276968 - 46276968 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	256	41
BDP1	55814	broad.mit.edu	37	5	70806004	70806004	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:70806004A>G	ENST00000358731.4	+	17	3348	c.3085A>G	c.(3085-3087)Att>Gtt	p.I1029V	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1029	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ACCAGAGGTGATTGATGCTAC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	75	75			NA	NA	5		NA											NA				70806004		1848	4090	5938	SO:0001583	missense			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734	55814	55814			13652	protein-coding gene	gene with protein product		607012	TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1	TFNR, TAF3B1	NA	11214970, 11040218	Standard	NM_018429	NM_018429	NA	Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.3085A>G	5.37:g.70806004A>G	ENSP00000351575:p.Ile1029Val	NA	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	37	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	a	4.020	0.001130	0.07819	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.16073	2.37	3.49	-0.314	0.12750	.	2.027030	0.03609	U	0.234518	T	0.08088	0.0202	N	0.12182	0.205	0.09310	N	0.999999	B;B;B	0.14012	0.003;0.009;0.009	B;B;B	0.11329	0.003;0.006;0.002	T	0.24977	-1.0145	10	0.10377	T	0.69	.	2.3315	0.04237	0.5163:0.0:0.2502:0.2335	.	1029;1029;1029	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	V	1029;609	ENSP00000351575:I1029V	ENSP00000351575:I1029V	I	+	1	0	BDP1	70841760	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-0.139000	0.10358	-0.058000	0.13177	0.260000	0.18958	ATT	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374681.2		+	ENST00000358731.4	Missense_Mutation	SNP	5 : 70806004 - 70806004 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	548	103
LYVE1	10894	broad.mit.edu	37	11	10582264	10582264	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10582264C>A	ENST00000529598.1	-	2	213	c.169G>T	c.(169-171)Gaa>Taa	p.E57*	LYVE1_ENST00000256178.3_Nonsense_Mutation_p.E161*|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1-AS1_ENST00000529979.1_RNA|LYVE1_ENST00000531706.1_5'UTR			Q9Y5Y7	LYVE1_HUMAN	lymphatic vessel endothelial hyaluronan receptor 1	161	Link.				anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		ACAATAAATTCTGTTGTTTGT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													349	320	330			NA	NA	11		NA											NA				10582264		2201	4294	6495	SO:0001587	stop_gained			AF118108	CCDS7804.1	11p15	2008-02-05	2007-06-26	2007-06-26		ENSG00000133800	10894	10894			14687	protein-coding gene	gene with protein product		605702	extracellular link domain containing 1	XLKD1	NA	10037799, 12554094	Standard	NM_016164	NM_006691	NA	Approved	LYVE-1	uc001miv.2	Q9Y5Y7		ENST00000529598.1:c.169G>T	11.37:g.10582264C>A	ENSP00000436016:p.Glu57*	NA	Q8TC18|Q9UNF4	37		.	.	.	.	.	.	.	.	.	.	C	19.85	3.903816	0.72754	.	.	ENSG00000133800	ENST00000256178;ENST00000529598	.	.	.	5.27	4.36	0.52297	.	0.458728	0.25205	N	0.032356	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-9.6432	10.1961	0.43056	0.0:0.9076:0.0:0.0924	.	.	.	.	X	161;57	.	ENSP00000256178:E161X	E	-	1	0	LYVE1	10538840	0.272000	0.24172	0.731000	0.30826	0.016000	0.09150	0.920000	0.28705	1.376000	0.46267	0.650000	0.86243	GAA	LYVE1-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000385895.1		-	ENST00000529598.1	Nonsense_Mutation	SNP	11 : 10582264 - 10582264 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	908	76
GLRA2	2742	broad.mit.edu	37	X	14625300	14625300	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:14625300C>A	ENST00000218075.4	+	6	1155	c.625C>A	c.(625-627)Cca>Aca	p.P209T	GLRA2_ENST00000443437.2_Missense_Mutation_p.P120T|GLRA2_ENST00000355020.4_Missense_Mutation_p.P209T	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	209					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	AAGTGATGGTCCAGTGCAAGT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	153	159			NA	NA	X		NA											NA				14625300		2203	4300	6503	SO:0001583	missense				CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958	2742	2742		Ligand-gated ion channels / Glycine receptors	4327	protein-coding gene	gene with protein product		305990		GLR	NA		Standard		NM_002063	NA	Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.625C>A	X.37:g.14625300C>A	ENSP00000218075:p.Pro209Thr	NA	A8K0J6|B2R6I8|Q53YX7|Q6ICQ0|Q99862	37	CCDS14160.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.009569	0.75046	.	.	ENSG00000101958	ENST00000443437;ENST00000218075;ENST00000355020;ENST00000415367	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	5.58	5.58	0.84498	Neurotransmitter-gated ion-channel ligand-binding (3);	0.143817	0.64402	D	0.000005	D	0.84392	0.5462	M	0.62723	1.935	0.58432	D	0.999999	P;P;P	0.43024	0.798;0.643;0.736	P;B;P	0.52823	0.595;0.188;0.71	D	0.85646	0.1279	10	0.87932	D	0	.	18.7972	0.91999	0.0:1.0:0.0:0.0	.	193;209;209	B7Z4E9;P23416;P23416-2	.;GLRA2_HUMAN;.	T	120;209;209;193	ENSP00000387756:P120T;ENSP00000218075:P209T;ENSP00000347123:P209T;ENSP00000391606:P193T	ENSP00000218075:P209T	P	+	1	0	GLRA2	14535221	0.993000	0.37304	1.000000	0.80357	0.950000	0.60333	2.720000	0.47252	2.471000	0.83476	0.600000	0.82982	CCA	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055829.1		+	ENST00000218075.4	Missense_Mutation	SNP	X : 14625300 - 14625300 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	487	127
LPHN1	22859	broad.mit.edu	37	19	14266186	14266186	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14266186G>A	ENST00000340736.6	-	19	3591	c.3294C>T	c.(3292-3294)tgC>tgT	p.C1098C	CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Silent_p.C1093C|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1098					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCTGTAAGGCGCAGTGAAAGA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	141	143			NA	NA	19		NA											NA				14266186		2203	4300	6503	SO:0001819	synonymous_variant			AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071	22859	22859		-, GPCR / Class B : Orphans	20973	protein-coding gene	gene with protein product					NA	10994649	Standard	NM_014921	NM_014921	NA	Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.3294C>T	19.37:g.14266186G>A		NA	Q96IE7|Q9BU07|Q9HAR3	37	CCDS32928.1																																																																																			LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459696.1		-	ENST00000340736.6	Silent	SNP	19 : 14266186 - 14266186 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	769	167
GOLPH3L	55204	broad.mit.edu	37	1	150620874	150620874	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150620874C>T	ENST00000271732.3	-	5	825	c.781G>A	c.(781-783)Gac>Aac	p.D261N	GOLPH3L_ENST00000540514.1_Missense_Mutation_p.D217N	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	261						Golgi cisterna membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			ACTTCAGGGTCCAGTTCTACT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	121	125			NA	NA	1		NA											NA				150620874		2203	4300	6503	SO:0001583	missense			AJ296153	CCDS966.1	1q21	2008-02-05			ENSG00000143457	ENSG00000143457	55204	55204			24882	protein-coding gene	gene with protein product		612208			NA		Standard	NM_018178	NM_018178	NA	Approved	GPP34R	uc001evj.2	Q9H4A5	OTTHUMG00000035009	ENST00000271732.3:c.781G>A	1.37:g.150620874C>T	ENSP00000271732:p.Asp261Asn	NA	B1AN09|Q9NVK0	37	CCDS966.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.851878	0.71719	.	.	ENSG00000143457	ENST00000271732;ENST00000369003;ENST00000540514	.	.	.	5.44	4.49	0.54785	.	0.054669	0.64402	D	0.000001	T	0.60612	0.2282	M	0.91768	3.24	0.52501	D	0.999956	P;B	0.38729	0.644;0.002	B;B	0.40444	0.329;0.001	T	0.69461	-0.5139	9	0.54805	T	0.06	-15.6672	8.8888	0.35420	0.1512:0.7702:0.0:0.0786	.	217;261	F5H4M3;Q9H4A5	.;GLP3L_HUMAN	N	261;283;217	.	ENSP00000271732:D261N	D	-	1	0	GOLPH3L	148887498	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.454000	0.60068	2.832000	0.97577	0.655000	0.94253	GAC	GOLPH3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084734.1		-	ENST00000271732.3	Missense_Mutation	SNP	1 : 150620874 - 150620874 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	529	127
MTFMT	123263	broad.mit.edu	37	15	65316129	65316129	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65316129G>A	ENST00000561025.1	-	2	101				MTFMT_ENST00000220058.4_Silent_p.G141G			Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	NA						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	CATTCAATATGCCACTGAGTT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	61	61			NA	NA	15		NA											NA				65316129		1917	4130	6047	SO:0001627	intron_variant			AK055688	CCDS45280.1	15q22.31	2006-11-29		2005-08-09		ENSG00000103707	123263	123263			29666	protein-coding gene	gene with protein product		611766			NA	9614118	Standard	NM_139242	NM_139242	NA	Approved	FMT1	uc002aof.4	Q96DP5		ENST00000561025.1:c.104-2175C>T	15.37:g.65316129G>A		NA		37																																																																																				MTFMT-006	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000418160.1		-	ENST00000561025.1	Intron	SNP	15 : 65316129 - 65316129 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	115	39
RAB11FIP1	80223	broad.mit.edu	37	8	37732351	37732351	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37732351G>T	ENST00000330843.4	-	3	1316	c.1304C>A	c.(1303-1305)tCt>tAt	p.S435Y	RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.S287Y|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.S435Y|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.S287Y	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	435					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AGACAGCAAAGAGGACCTCCT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	113	116			NA	NA	8		NA											NA				37732351		2203	4300	6503	SO:0001583	missense			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675	80223	80223			30265	protein-coding gene	gene with protein product		608737			NA	11786538, 11495908	Standard	NM_025151	NM_001002814	NA	Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1304C>A	8.37:g.37732351G>T	ENSP00000331342:p.Ser435Tyr	NA	Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	37	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050679	0.55218	.	.	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000522727;ENST00000524118	T;T;T;T	0.38240	1.95;1.95;1.23;1.15	4.91	4.91	0.64330	.	0.312246	0.28093	N	0.016627	T	0.56819	0.2011	M	0.72894	2.215	0.34544	D	0.71056	D;D;D;D	0.76494	0.989;0.99;0.993;0.999	P;D;P;D	0.64595	0.768;0.912;0.884;0.927	T	0.70171	-0.4945	10	0.56958	D	0.05	-6.8887	14.5917	0.68371	0.0:0.1465:0.8535:0.0	.	287;287;435;435	E7EX40;Q6WKZ4-2;Q6WKZ4-3;Q6WKZ4	.;.;.;RFIP1_HUMAN	Y	435;435;287;287	ENSP00000287263:S435Y;ENSP00000331342:S435Y;ENSP00000430009:S287Y;ENSP00000430680:S287Y	ENSP00000287263:S435Y	S	-	2	0	RAB11FIP1	37851509	1.000000	0.71417	0.925000	0.36789	0.612000	0.37316	4.742000	0.62103	2.264000	0.75181	0.563000	0.77884	TCT	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376816.1		-	ENST00000330843.4	Missense_Mutation	SNP	8 : 37732351 - 37732351 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	968	93
GRID1	2894	broad.mit.edu	37	10	88123711	88123711	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88123711C>A	ENST00000327946.7	-	2	307	c.222G>T	c.(220-222)caG>caT	p.Q74H		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	74						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CCTGCACAGCCTGGAATGGGT	0.627		NA								Multiple Myeloma(13;0.14)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													242	154	183			NA	NA	10		NA											NA				88123711		2203	4300	6503	SO:0001583	missense			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771	2894	2894		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4575	protein-coding gene	gene with protein product		610659			NA		Standard	XM_043613	NM_017551	NA	Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.222G>T	10.37:g.88123711C>A	ENSP00000330148:p.Gln74His	NA	B3KXD5|Q8IXT3	37	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.477742	0.44044	.	.	ENSG00000182771	ENST00000327946	D	0.83163	-1.69	4.96	4.06	0.47325	Extracellular ligand-binding receptor (1);	0.194154	0.33382	N	0.004973	T	0.69895	0.3162	L	0.34521	1.04	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.60667	-0.7218	10	0.25106	T	0.35	.	5.0502	0.14505	0.1782:0.6465:0.0:0.1754	.	74	Q9ULK0	GRID1_HUMAN	H	74	ENSP00000330148:Q74H	ENSP00000330148:Q74H	Q	-	3	2	GRID1	88113691	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.223000	0.58587	1.087000	0.41251	-0.347000	0.07816	CAG	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049148.3		-	ENST00000327946.7	Missense_Mutation	SNP	10 : 88123711 - 88123711 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	406	58
IGDCC3	9543	broad.mit.edu	37	15	65623869	65623869	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65623869G>T	ENST00000327987.4	-	8	1528	c.1277C>A	c.(1276-1278)cCt>cAt	p.P426H	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	426	Fibronectin type-III 1.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ATTGCGGGGAGGCCCGGGGAG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	36	36			NA	NA	15		NA											NA				65623869		2201	4299	6500	SO:0001583	missense			AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498	9543	9543		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	9700	protein-coding gene	gene with protein product		604184	putative neuronal cell adhesion molecule	PUNC	NA	9922388	Standard	NM_004884	NM_004884	NA	Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.1277C>A	15.37:g.65623869G>T	ENSP00000332773:p.Pro426His	NA	O95215	37	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861591	0.51482	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.59906	0.23	4.92	4.92	0.64577	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.215894	0.41605	D	0.000857	T	0.78880	0.4353	M	0.85777	2.775	0.46849	D	0.999225	D	0.71674	0.998	D	0.70487	0.969	T	0.83357	-0.0000	10	0.87932	D	0	-10.6279	18.1374	0.89624	0.0:0.0:1.0:0.0	.	426	Q8IVU1	IGDC3_HUMAN	H	426;289	ENSP00000332773:P426H	ENSP00000332773:P426H	P	-	2	0	IGDCC3	63410922	1.000000	0.71417	0.948000	0.38648	0.318000	0.28184	4.402000	0.59722	2.241000	0.73720	0.655000	0.94253	CCT	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256826.1		-	ENST00000327987.4	Missense_Mutation	SNP	15 : 65623869 - 65623869 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	196	49
ASPM	259266	broad.mit.edu	37	1	197073231	197073232	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197073231_197073232insT	ENST00000367409.4	-	18	5405_5406	c.5149_5150insA	c.(5149-5151)atafs	p.I1717fs	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1717					mitosis	cytoplasm|nucleus	calmodulin binding	p.I1717fs*1(2)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTGTGCAGCTATTTTTTTGGAA	0.371		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Deletion - Frameshift(2)	ovary(1)|large_intestine(1)	GRCh37	CD077387	ASPM	D							NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279	259266	259266			19048	protein-coding gene	gene with protein product		605481	microcephaly, primary autosomal recessive 5, asp (abnormal spindle)-like, microcephaly associated (Drosophila)	MCPH5	NA	11078481	Standard	NM_018136	NM_018136	NA	Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5150dupA	1.37:g.197073238_197073238dupT	ENSP00000356379:p.Ile1717fs	NA	Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	37	CCDS1389.1																																																																																			ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088256.1		-	ENST00000367409.4	Frame_Shift_Ins	INS	1 : 197073231 - 197073232 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	737	144
TRIM17	51127	broad.mit.edu	37	1	228596798	228596798	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228596798delC	ENST00000456946.2	-	6	1333	c.958delG	c.(958-960)gaafs	p.E320fs	RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000366697.2_Intron|TRIM17_ENST00000366698.2_Intron|TRIM17_ENST00000295033.3_Intron	NM_001134855.1	NP_001128327.1	Q9Y577	TRI17_HUMAN	tripartite motif containing 17	0	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				TTGGTGGCTTCCGAGGCTAGG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	56	52			NA	NA	1		NA											NA				228596798		692	1591	2283	SO:0001589	frameshift_variant			AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931	51127	51127		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	13430	protein-coding gene	gene with protein product	ring finger protein 16, RING finger protein terf, testis RING finger protein	606123	tripartite motif-containing 17	RNF16	NA	9792805, 10894938	Standard	NM_016102	NM_016102	NA	Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000456946.2:c.958delG	1.37:g.228596798delC	ENSP00000403312:p.Glu320fs	NA	B4DVJ2|Q5VST8	37	CCDS44327.1																																																																																			TRIM17-006	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381512.1		-	ENST00000456946.2	Frame_Shift_Del	DEL	1 : 228596798 - 228596798 - PAAD-TCGA-IB-7651-Tumor-SM-2NW71	247	43
NLRP10	338322	broad.mit.edu	37	11	7981307	7981308	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7981307_7981308insT	ENST00000328600.2	-	2	2012_2013	c.1851_1852insA	c.(1849-1854)aaatgtfs	p.C618fs		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	618							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACAGAAGGACATTTTTGCTCCT	0.396		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261	338322	338322		Nucleotide-binding domain and leucine rich repeat containing	21464	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10	609662	NACHT, leucine rich repeat and PYD containing 10	NALP10	NA	12563287	Standard	NM_176821	NM_176821	NA	Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1852dupA	11.37:g.7981312_7981312dupT	ENSP00000327763:p.Cys618fs	NA	Q2M3C4|Q6JGT0	37	CCDS7784.1																																																																																			NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385705.1		-	ENST00000328600.2	Frame_Shift_Ins	INS	11 : 7981307 - 7981308 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	308	62
ANO5	203859	broad.mit.edu	37	11	22242646	22242647	+	Frame_Shift_Ins	INS	-	-	A	rs137854521		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22242646_22242647insA	ENST00000324559.8	+	5	501_502	c.184_185insA	c.(184-186)caafs	p.Q62fs		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	62						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCTGCAGTTTCAAAAAAATCAG	0.322		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0									,	2,4258		0,2,2128	NA	NA	NA	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	,	0	0.3		dbSNP_133	74	18,8234		0,18,4108	no	frameshift,frameshift	ANO5	NM_213599.2,NM_001142649.1	,	0,20,6236	A1A1,A1R,RR	NA	0.2181,0.0469,0.1598	,	,	NA	20,12492	NA	NA	NA	SO:0001589	frameshift_variant			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714	203859	203859		Ion channels / Chloride channels : Calcium activated : Anoctamins	27337	protein-coding gene	gene with protein product		608662	transmembrane protein 16E, limb girdle muscular dystrophy 2L (autosomal recessive)	TMEM16E, LGMD2L	NA	15067359, 20096397, 24692353	Standard	NM_213599	NM_213599	NA	Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.191dupA	11.37:g.22242653_22242653dupA	ENSP00000315371:p.Gln62fs	NA		37	CCDS31444.1																																																																																			ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387615.1		+	ENST00000324559.8	Frame_Shift_Ins	INS	11 : 22242646 - 22242647 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	185	37
MS4A15	219995	broad.mit.edu	37	11	60531345	60531346	+	Frame_Shift_Ins	INS	-	-	G	rs1032939	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60531345_60531346insG	ENST00000405633.3	+	2	218_219	c.139_140insG	c.(139-141)ctgfs	p.L47fs	MS4A15_ENST00000528170.1_Frame_Shift_Ins_p.L47fs|MS4A15_ENST00000337911.4_Intron	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	47			L -> R (in dbSNP:rs1032939).			integral to membrane	receptor activity			breast(1)|large_intestine(2)|lung(3)	6						GGAGCCACCGCTGGGGGCACAG	0.604		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			AY584608	CCDS7991.1, CCDS44617.1, CCDS60802.1	11q12.2	2008-03-25					219995	219995			28573	protein-coding gene	gene with protein product					NA		Standard		NM_001098835	NA	Approved		uc009ynf.1	Q8N5U1		Exception_encountered	11.37:g.60531345_60531346insG	ENSP00000386022:p.Leu47fs	NA		37	CCDS44617.1																																																																																			MS4A15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395618.1		+	ENST00000405633.3	Frame_Shift_Ins	INS	11 : 60531345 - 60531346 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	458	72
DLG2	1740	broad.mit.edu	37	11	83641454	83641455	+	Translation_Start_Site	INS	-	-	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:83641454_83641455insT	ENST00000398309.2	-	10	1567_1568	c.1097_1098insA	c.(1096-1098)cctfs	p.P366fs	DLG2_ENST00000524982.1_Frame_Shift_Ins_p.P366fs|DLG2_ENST00000376106.3_De_novo_Start_OutOfFrame|DLG2_ENST00000330014.6_Frame_Shift_Ins_p.P305fs|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000543673.1_Frame_Shift_Ins_p.P471fs|DLG2_ENST00000537455.1_Frame_Shift_Ins_p.P120fs|DLG2_ENST00000398301.2_Frame_Shift_Ins_p.P405fs|DLG2_ENST00000376104.2_Frame_Shift_Ins_p.P471fs|DLG2_ENST00000280241.8_Frame_Shift_Ins_p.P405fs|DLG2_ENST00000531015.1_Frame_Shift_Ins_p.P333fs|DLG2_ENST00000532653.1_Frame_Shift_Ins_p.P366fs	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	366						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CACACTCAACAGGGGAATAGTG	0.505		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672	1740	1740		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	2901	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 58	603583	discs, large homolog 2, chapsyn-110 (Drosophila)		NA	8755482, 9806853	Standard	NM_001364	NM_001142702	NA	Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000398309.2:c.1097_1098insA	11.37:g.83641454_83641455insT	ENSP00000381355:p.Pro366fs	NA	B7WNY8|Q59G57|Q68CQ8|Q6ZTA8	37	CCDS41696.1																																																																																			DLG2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000259243.3		-	ENST00000398309.2	Frame_Shift_Ins	INS	11 : 83641454 - 83641455 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	518	86
AMHR2	269	broad.mit.edu	37	12	53819644	53819645	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53819644_53819645insG	ENST00000379791.3	+	6	793_794	c.793_794insG	c.(793-795)cggfs	p.R265fs	AMHR2_ENST00000257863.4_Frame_Shift_Ins_p.R265fs|AMHR2_ENST00000550311.1_Frame_Shift_Ins_p.R265fs	NM_001164691.1	NP_001158163.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	265	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	p.R265W(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CACTGCCAGCCGGGGGGGTCCT	0.579		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14					269	269			465	protein-coding gene	gene with protein product	Muellerian inhibiting substance type II receptor	600956			NA	7493017	Standard	NM_020547	NM_001164690	NA	Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000379791.3:c.800dupG	12.37:g.53819651_53819651dupG	ENSP00000369117:p.Arg265fs	NA	A0AVE1|B9EGB7|Q13762	37	CCDS53798.1																																																																																			AMHR2-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407050.1		+	ENST00000379791.3	Frame_Shift_Ins	INS	12 : 53819644 - 53819645 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	346	53
HCFC2	29915	broad.mit.edu	37	12	104487331	104487332	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104487331_104487332insA	ENST00000229330.4	+	10	1556_1557	c.1452_1453insA	c.(1453-1455)aaafs	p.K485fs	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	485					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						ATATGCTAAGGAAAAATGAAGG	0.312		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(184;1814 2036 4771 6974 15702)							NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727	29915	29915			24972	protein-coding gene	gene with protein product		607926			NA	10196288	Standard	NM_013320	NM_013320	NA	Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.1457dupA	12.37:g.104487336_104487336dupA	ENSP00000229330:p.Lys485fs	NA	B2R8Q5	37	CCDS9097.1																																																																																			HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407780.1		+	ENST00000229330.4	Frame_Shift_Ins	INS	12 : 104487331 - 104487332 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	333	56
BRCA2	675	broad.mit.edu	37	13	32913836	32913837	+	Frame_Shift_Ins	INS	-	-	A	rs80358757		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32913836_32913837insA	ENST00000380152.3	+	11	5577_5578	c.5344_5345insA	c.(5344-5346)caafs	p.Q1782fs	BRCA2_ENST00000544455.1_Frame_Shift_Ins_p.Q1782fs			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1782					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	p.N1784fs*7(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TGTTGAAGATCAAAAAAACACT	0.322		NA	D, Mis, N, F, S		breast, ovarian, pancreatic	breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		L, E	1	Deletion - Frameshift(1)	large_intestine(1)	GRCh37	CM067354	BRCA2	M	rs80358757						NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618	675	675		Fanconi anemia, complementation groups	1101	protein-coding gene	gene with protein product	BRCA1/BRCA2-containing complex, subunit 2	600185	Fanconi anemia, complementation group D1	FANCD1, FACD, FANCD	NA	8091231, 7581463, 15057823	Standard	NM_000059	NM_000059	NA	Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.5351dupA	13.37:g.32913843_32913843dupA	ENSP00000369497:p.Gln1782fs	NA	O00183|O15008|Q13879|Q5TBJ7	37	CCDS9344.1																																																																																			BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046000.2		+	ENST00000380152.3	Frame_Shift_Ins	INS	13 : 32913836 - 32913837 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	258	50
MEF2A	4205	broad.mit.edu	37	15	100185786	100185787	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100185786_100185787insT	ENST00000354410.5	+	4	704_705	c.75_76insT	c.(76-78)tttfs	p.F26fs	MEF2A_ENST00000557785.1_Frame_Shift_Ins_p.F26fs|MEF2A_ENST00000338042.6_Frame_Shift_Ins_p.F26fs|MEF2A_ENST00000558856.1_Intron|MEF2A_ENST00000557942.1_Frame_Shift_Ins_p.F26fs|MEF2A_ENST00000449277.2_Intron|MEF2A_ENST00000453228.2_Frame_Shift_Ins_p.F26fs|MEF2A_ENST00000558812.1_Intron	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	26	Lys-rich (basic).|MADS-box.				apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|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|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			CAAAGAGAAAGTTTGGATTAAT	0.317		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant				CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305	NA	4205		Myocyte enhancer factors	6993	protein-coding gene	gene with protein product		600660			NA	1516833	Standard		NM_005587	NA	Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000354410.5:c.78dupT	15.37:g.100185789_100185789dupT	ENSP00000346389:p.Phe26fs	NA	O43814|Q14223|Q14224|Q96D14	37	CCDS45362.1																																																																																			MEF2A-001	KNOWN	overlapping_uORF|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415980.1		+	ENST00000354410.5	Frame_Shift_Ins	INS	15 : 100185786 - 100185787 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	402	70
NF1	4763	broad.mit.edu	37	17	29661916	29661917	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29661916_29661917insT	ENST00000358273.4	+	40	6256_6257	c.5873_5874insT	c.(5872-5877)cgttttfs	p.RF1958fs	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Frame_Shift_Ins_p.RF1937fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1958					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AATCTAGTTCGTTTTTGCAAGC	0.356		NA	D, Mis, N, F, S, O		neurofibroma, glioma	neurofibroma, glioma			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)											NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712	4763	4763			7765	protein-coding gene	gene with protein product	neurofibromatosis, von Recklinghausen disease, Watson disease	613113			NA	1715669	Standard	NM_000267	NM_000267	NA	Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5878dupT	17.37:g.29661921_29661921dupT	ENSP00000351015:p.Arg1958fs	NA	O00662|Q14284|Q14930|Q9UMK3	37	CCDS42292.1																																																																																			NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256351.2		+	ENST00000358273.4	Frame_Shift_Ins	INS	17 : 29661916 - 29661917 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	337	62
ITGB4	3691	broad.mit.edu	37	17	73725372	73725373	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73725372_73725373insC	ENST00000200181.3	+	7	780_781	c.593_594insC	c.(592-597)gaccccfs	p.DP198fs	ITGB4_ENST00000339591.3_Frame_Shift_Ins_p.DP198fs|ITGB4_ENST00000449880.2_Frame_Shift_Ins_p.DP198fs|ITGB4_ENST00000579662.1_Frame_Shift_Ins_p.DP198fs|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Frame_Shift_Ins_p.DP198fs	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	198	VWFA.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	p.D198D(1)|p.F201fs*9(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCAACAGTGACCCCCCCTTCT	0.599		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Deletion - Frameshift(1)|Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)|lung(1)							,,	1,4263		0,1,2131	NA	NA	NA		,,	5.6	0.7			84	2,8252		0,2,4125	no	frameshift,frameshift,frameshift	ITGB4	NM_001005731.1,NM_001005619.1,NM_000213.3	,,	0,3,6256	A1A1,A1R,RR	NA	0.0242,0.0235,0.024	,,	,,	NA	3,12515	NA	NA	NA	SO:0001589	frameshift_variant				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470	3691	3691		CD molecules, Integrins, Fibronectin type III domain containing	6158	protein-coding gene	gene with protein product		147557			NA	2070796	Standard		XM_005257309	NA	Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.600dupC	17.37:g.73725379_73725379dupC	ENSP00000200181:p.Asp198fs	NA	O14690|O14691|O15339|O15340|O15341|Q9UIQ4	37	CCDS11727.1																																																																																			ITGB4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448334.1		+	ENST00000200181.3	Frame_Shift_Ins	INS	17 : 73725372 - 73725373 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	378	64
GAREM	64762	broad.mit.edu	37	18	29972971	29972971	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29972971delT	ENST00000399218.4	-	2	204	c.149delA	c.(148-150)aatfs	p.N50fs	GAREM_ENST00000269209.6_Frame_Shift_Del_p.N50fs	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1	NA											NA						CAGATAGTCATTTTCCCGCAG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	113	119			NA	NA	18		NA											NA				29972971		2203	4300	6503	SO:0001589	frameshift_variant			AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441	64762	64762			26136	protein-coding gene	gene with protein product	Grb2-associated and regulator of Erk/MAPK		chromosome 18 open reading frame 11, family with sequence similarity 59, member A	C18orf11, FAM59A	NA	19509291	Standard	NM_022751	NM_001242409	NA	Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000399218.4:c.149delA	18.37:g.29972971delT	ENSP00000382165:p.Asn50fs	NA		37	CCDS11905.1																																																																																			GAREM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255364.3		-	ENST00000399218.4	Frame_Shift_Del	DEL	18 : 29972971 - 29972971 - PAAD-TCGA-IB-7651-Tumor-SM-2NW71	397	82
FBXO15	201456	broad.mit.edu	37	18	71749238	71749238	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:71749238delT	ENST00000419743.2	-	9	1266	c.1187delA	c.(1186-1188)aatfs	p.N397fs	FBXO15_ENST00000269500.5_Frame_Shift_Del_p.N321fs|FBXO15_ENST00000580806.1_5'UTR	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	321										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TTCTCTGTTATTTTTTAAATG	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	97	99			NA	NA	18		NA											NA				71749238		2203	4300	6503	SO:0001589	frameshift_variant			AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665	201456	201456		F-boxes /  other	13617	protein-coding gene	gene with protein product		609093	F-box only protein 15		NA	12665572	Standard	NM_152676	NM_152676	NA	Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.1187delA	18.37:g.71749238delT	ENSP00000393154:p.Asn397fs	NA		37	CCDS45884.1																																																																																			FBXO15-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444223.1		-	ENST00000419743.2	Frame_Shift_Del	DEL	18 : 71749238 - 71749238 - PAAD-TCGA-IB-7651-Tumor-SM-2NW71	176	32
SUGP2	10147	broad.mit.edu	37	19	19136015	19136016	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19136015_19136016insA	ENST00000601879.1	-	3	1438_1439	c.1141_1142insT	c.(1141-1143)tgcfs	p.C381fs	SUGP2_ENST00000600377.1_Frame_Shift_Ins_p.C395fs|SUGP2_ENST00000452918.2_Frame_Shift_Ins_p.C381fs|SUGP2_ENST00000456085.2_Frame_Shift_Ins_p.C150fs|SUGP2_ENST00000337018.6_Frame_Shift_Ins_p.C381fs			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	381					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						AGTAAAAAAGCAAAAATCTCTG	0.356		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607	10147	10147		G patch domain containing	18641	protein-coding gene	gene with protein product		607993	splicing factor, arginine/serine-rich 14	SFRS14	NA	12594045	Standard	NM_001017392	NM_014884	NA	Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.1142dupT	19.37:g.19136020_19136020dupA	ENSP00000472286:p.Cys381fs	NA	C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	37	CCDS12392.1																																																																																			SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464627.1		-	ENST00000601879.1	Frame_Shift_Ins	INS	19 : 19136015 - 19136016 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	360	70
ZNF543	125919	broad.mit.edu	37	19	57840153	57840154	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57840153_57840154insA	ENST00000321545.4	+	4	1668_1669	c.1323_1324insA	c.(1324-1326)aaafs	p.K442fs		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTGTCTTGCATAAAAGGACCCA	0.48		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229	125919	125919		Zinc fingers, C2H2-type, -	25281	protein-coding gene	gene with protein product					NA		Standard	XM_064865	NM_213598	NA	Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.1327dupA	19.37:g.57840157_57840157dupA	ENSP00000322545:p.Lys442fs	NA	Q495U9|Q495V0|Q6ZMP4|Q8NCX4	37	CCDS33130.1																																																																																			ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465780.1		+	ENST00000321545.4	Frame_Shift_Ins	INS	19 : 57840153 - 57840154 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	321	51
XIRP2	129446	broad.mit.edu	37	2	168106134	168106135	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168106134_168106135insA	ENST00000409195.1	+	9	8321_8322	c.8232_8233insA	c.(8233-8235)aaafs	p.K2745fs	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.K2745fs|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.K2523fs	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2570					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAACCTTTACCAAAAAACAATA	0.347		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092	129446	129446			14303	protein-coding gene	gene with protein product	myomaxin	609778	cardiomyopathy associated 3	CMYA3	NA	17046827, 12203715, 15454575	Standard	NM_152381	NM_001079810	NA	Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8238dupA	2.37:g.168106140_168106140dupA	ENSP00000386840:p.Lys2745fs	NA	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	37	CCDS42769.1																																																																																			XIRP2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333547.1		+	ENST00000409195.1	Frame_Shift_Ins	INS	2 : 168106134 - 168106135 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	366	91
BMP2	650	broad.mit.edu	37	20	6750998	6750999	+	Frame_Shift_Ins	INS	-	-	C	rs79417223		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:6750998_6750999insC	ENST00000378827.4	+	2	1444_1445	c.225_226insC	c.(226-228)cccfs	p.P76fs		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	76					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	ACGCCGTGGTGCCCCCCTACAT	0.653		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant				CCDS13099.1	20p12	2014-01-30			ENSG00000125845	ENSG00000125845	650	650		Bone morphogenetic proteins, Endogenous ligands	1069	protein-coding gene	gene with protein product		112261		BMP2A	NA	2376592	Standard		NM_001200	NA	Approved		uc002wmu.1	P12643	OTTHUMG00000031833	ENST00000378827.4:c.231dupC	20.37:g.6751004_6751004dupC	ENSP00000368104:p.Pro76fs	NA		37	CCDS13099.1																																																																																			BMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077918.3		+	ENST00000378827.4	Frame_Shift_Ins	INS	20 : 6750998 - 6750999 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	208	35
MMP9	4318	broad.mit.edu	37	20	44641175	44641176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44641175_44641176insC	ENST00000372330.3	+	8	1303_1304	c.1284_1285insC	c.(1285-1287)cccfs	p.P429fs		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	429					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TCACTGAGGGGCCCCCCTTGCA	0.629		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant				CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	4318	4318	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase), matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	CLG4B	NA	2158484	Standard		NM_004994	NA	Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1290dupC	20.37:g.44641181_44641181dupC	ENSP00000361405:p.Pro429fs	NA	B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	37	CCDS13390.1																																																																																			MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080337.1		+	ENST00000372330.3	Frame_Shift_Ins	INS	20 : 44641175 - 44641176 C PAAD-TCGA-IB-7651-Tumor-SM-2NW71	512	79
SPARCL1	8404	broad.mit.edu	37	4	88415552	88415553	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88415552_88415553insT	ENST00000503414.1	-	5	566_567	c.24_25insA	c.(22-27)aaactcfs	p.L9fs	SPARCL1_ENST00000282470.6_Frame_Shift_Ins_p.L134fs|SPARCL1_ENST00000418378.1_Frame_Shift_Ins_p.L134fs			Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	134					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TTCTCTGAGAGTTTTTTCTCCT	0.401		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583	8404	8404		EF-hand domain containing	11220	protein-coding gene	gene with protein product		606041	SPARC-like 1 (mast9, hevin)		NA	8488563, 7600298, 16844696	Standard		NM_001128310	NA	Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000503414.1:c.25dupA	4.37:g.88415558_88415558dupT	ENSP00000422903:p.Leu9fs	NA	Q14800	37																																																																																				SPARCL1-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000363611.2		-	ENST00000503414.1	Frame_Shift_Ins	INS	4 : 88415552 - 88415553 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	615	94
AGA	175	broad.mit.edu	37	4	178352895	178352896	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:178352895_178352896insT	ENST00000264595.2	-	9	1134_1135	c.1007_1008insA	c.(1006-1008)aatfs	p.N336fs		NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	336					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		CAGTTGGCTGATTTTTTTCGGA	0.371		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	175	175	3.5.1.26		318	protein-coding gene	gene with protein product	glycosylasparaginase, N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase	613228			NA		Standard	NM_000027	NM_000027	NA	Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.1008dupA	4.37:g.178352902_178352902dupT	ENSP00000264595:p.Asn336fs	NA	B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	37	CCDS3829.1																																																																																			AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361916.1		-	ENST00000264595.2	Frame_Shift_Ins	INS	4 : 178352895 - 178352896 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	226	37
ITGA1	3672	broad.mit.edu	37	5	52221300	52221301	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52221300_52221301insT	ENST00000282588.6	+	19	3054_3055	c.2596_2597insT	c.(2596-2598)gttfs	p.V866fs		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	866					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TCCAAATCTAGTTTTTTCAGGA	0.356		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949	3672	3672		CD molecules, Integrins	6134	protein-coding gene	gene with protein product		192968			NA	8428973, 11937138	Standard	NM_181501	NM_181501	NA	Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.2602dupT	5.37:g.52221306_52221306dupT	ENSP00000282588:p.Val866fs	NA	B2RNU0	37	CCDS3955.1																																																																																			ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253855.3		+	ENST00000282588.6	Frame_Shift_Ins	INS	5 : 52221300 - 52221301 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	377	59
PDE4D	5144	broad.mit.edu	37	5	58270553	58270554	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:58270553_58270554insA	ENST00000340635.6	-	15	2542_2543	c.2367_2368insT	c.(2365-2370)gtagggfs	p.G790fs	PDE4D_ENST00000502484.2_Frame_Shift_Ins_p.G729fs|PDE4D_ENST00000358923.6_Frame_Shift_Ins_p.G488fs|PDE4D_ENST00000507116.1_Frame_Shift_Ins_p.G726fs|PDE4D_ENST00000546160.1_Frame_Shift_Ins_p.G729fs|PDE4D_ENST00000317118.8_Frame_Shift_Ins_p.G499fs|PDE4D_ENST00000405755.2_Frame_Shift_Ins_p.G668fs|PDE4D_ENST00000503258.1_Frame_Shift_Ins_p.G660fs|PDE4D_ENST00000360047.5_Frame_Shift_Ins_p.G654fs	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	790					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	TCTTCTTCCCCTACTGCCTCCT	0.436		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant				CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				5144	5144	3.1.4.17	Phosphodiesterases	8783	protein-coding gene	gene with protein product	phosphodiesterase E3 dunce homolog (Drosophila)	600129	phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)	DPDE3	NA		Standard		NM_006203	NA	Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.2367_2368insT	5.37:g.58270553_58270554insA	ENSP00000345502:p.Gly790fs	NA	O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	37	CCDS47213.1																																																																																			PDE4D-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367940.3		-	ENST00000340635.6	Frame_Shift_Ins	INS	5 : 58270553 - 58270554 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1344	243
PCDHB3	56132	broad.mit.edu	37	5	140481073	140481074	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140481073_140481074insT	ENST00000231130.2	+	1	840_841	c.840_841insT	c.(841-843)tttfs	p.F281fs	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	281	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TATCATATGCATTTTTTCATGC	0.366		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205	56132	56132		Cadherins / Protocadherins : Clustered	8688	other	protocadherin		606329			NA	10380929	Standard	NM_018937	NM_018937	NA	Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.846dupT	5.37:g.140481079_140481079dupT	ENSP00000231130:p.Phe281fs	NA	B2R8P2	37	CCDS4245.1																																																																																			PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251817.2		+	ENST00000231130.2	Frame_Shift_Ins	INS	5 : 140481073 - 140481074 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	419	70
SLC26A8	116369	broad.mit.edu	37	6	35912064	35912065	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35912064_35912065insT	ENST00000490799.1	-	20	2878_2879	c.2525_2526insA	c.(2524-2526)aatfs	p.N842fs	SLC26A8_ENST00000394602.2_Frame_Shift_Ins_p.N737fs|SLC26A8_ENST00000355574.2_Frame_Shift_Ins_p.N842fs	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	842	Interaction with RACGAP1.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CTGGACTTACATTTTTTTGGCT	0.401		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053	116369	116369		Solute carriers	14468	protein-coding gene	gene with protein product		608480	solute carrier family 26, member 8		NA	11834742, 11829495	Standard		NM_001193476	NA	Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.2526dupA	6.37:g.35912071_35912071dupT	ENSP00000417638:p.Asn842fs	NA	Q5JVR5|Q812C7|Q8TC65|Q96MA0|Q96PK8	37	CCDS4813.1																																																																																			SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040325.2		-	ENST00000490799.1	Frame_Shift_Ins	INS	6 : 35912064 - 35912065 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	537	87
ZNF451	26036	broad.mit.edu	37	6	57012217	57012218	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:57012217_57012218insA	ENST00000370706.4	+	10	1578_1579	c.1334_1335insA	c.(1333-1338)ccaaaafs	p.PK445fs	RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|ZNF451_ENST00000491832.2_Frame_Shift_Ins_p.PK445fs|ZNF451_ENST00000357489.3_Frame_Shift_Ins_p.PK445fs|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000587815.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATTGCCATTCCAAAAAAGAAGA	0.342		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200	26036	26036		Zinc fingers, C2H2-type	21091	protein-coding gene	gene with protein product		615708			NA	9628581	Standard	NM_015555	NM_001031623	NA	Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.1340dupA	6.37:g.57012223_57012223dupA	ENSP00000359740:p.Pro445fs	NA	Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	37	CCDS43477.1																																																																																			ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041035.2		+	ENST00000370706.4	Frame_Shift_Ins	INS	6 : 57012217 - 57012218 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	404	65
FAM126A	84668	broad.mit.edu	37	7	22985591	22985592	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:22985591_22985592insT	ENST00000432176.2	-	11	1414_1415	c.1182_1183insA	c.(1180-1185)aaagaafs	p.E395fs	FAM126A_ENST00000409923.1_3'UTR	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	395						cytoplasm|membrane	signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						CCTGTAGTTTCTTTTTCTTTTC	0.406		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			BC018710	CCDS5377.1	7p15.3	2008-10-02			ENSG00000122591	ENSG00000122591	84668	84668			24587	protein-coding gene	gene with protein product	down regulated by Ctnnb1, a	610531			NA	10910037, 16951682	Standard	NM_032581	NM_032581	NA	Approved	DRCTNNB1A, HCC, HYCC1, hyccin	uc003svm.4	Q9BYI3	OTTHUMG00000128435	ENST00000432176.2:c.1183dupA	7.37:g.22985596_22985596dupT	ENSP00000403396:p.Glu395fs	NA	A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6	37	CCDS5377.1																																																																																			FAM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250230.1		-	ENST00000432176.2	Frame_Shift_Ins	INS	7 : 22985591 - 22985592 T PAAD-TCGA-IB-7651-Tumor-SM-2NW71	985	173
NOS3	4846	broad.mit.edu	37	7	150698397	150698398	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150698397_150698398insG	ENST00000484524.1	+	10	1312_1313	c.1312_1313insG	c.(1312-1314)aggfs	p.R438fs	NOS3_ENST00000467517.1_Frame_Shift_Ins_p.R438fs|NOS3_ENST00000297494.3_Frame_Shift_Ins_p.R438fs|NOS3_ENST00000461406.1_Frame_Shift_Ins_p.R232fs	NM_001160111.1	NP_001153583.1	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	438	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GCAGAAGGCCAGGGGGGGCTGC	0.614		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	4846	4846	1.14.13.39		7876	protein-coding gene	gene with protein product	endothelial nitric oxide synthase	163729			NA	1379542	Standard	NM_000603	NM_000603	NA	Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1319dupG	7.37:g.150698404_150698404dupG	ENSP00000420215:p.Arg438fs	NA	A8KA63|B2RCQ1|Q13662|Q14251|Q14434|Q548C1|Q6GSL5|Q9UDC6	37	CCDS55182.1																																																																																			NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351550.1		+	ENST00000484524.1	Frame_Shift_Ins	INS	7 : 150698397 - 150698398 G PAAD-TCGA-IB-7651-Tumor-SM-2NW71	555	85
FZD6	8323	broad.mit.edu	37	8	104343656	104343657	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104343656_104343657insA	ENST00000358755.4	+	7	2357_2358	c.2040_2041insA	c.(2041-2043)aaafs	p.K681fs	FZD6_ENST00000540287.1_Frame_Shift_Ins_p.K376fs|FZD6_ENST00000523739.1_Frame_Shift_Ins_p.K649fs|FZD6_ENST00000522566.1_Frame_Shift_Ins_p.K681fs	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	681					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			CAAGCAGCCTCAAAGGTTCCAC	0.45		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930	8323	8323		GPCR / Class F : Frizzled receptors	4044	protein-coding gene	gene with protein product		603409	frizzled (Drosophila) homolog 6, frizzled homolog 6 (Drosophila), frizzled 6, seven transmembrane spanning receptor, frizzled family receptor 6		NA	9480858, 14747478	Standard	NM_003506	NM_003506	NA	Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.2043dupA	8.37:g.104343659_104343659dupA	ENSP00000351605:p.Lys681fs	NA	Q6N0A5|Q6P9C3|Q8WXR9	37	CCDS6298.1																																																																																			FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380560.1		+	ENST00000358755.4	Frame_Shift_Ins	INS	8 : 104343656 - 104343657 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	573	118
COL22A1	169044	broad.mit.edu	37	8	139635983	139635984	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:139635983_139635984insA	ENST00000303045.6	-	52	4208_4209	c.3762_3763insT	c.(3760-3765)cctggafs	p.G1255fs	COL22A1_ENST00000435777.1_Frame_Shift_Ins_p.G1235fs|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1255	Collagen-like 12.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACCGGCTCTCCAGGGGGACCCG	0.436		NA								HNSCC(7;0.00092)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436	169044	169044		Collagens	22989	protein-coding gene	gene with protein product		610026			NA		Standard	XM_291257	NM_152888	NA	Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3763dupT	8.37:g.139635984_139635984dupA	ENSP00000303153:p.Gly1255fs	NA	B7ZMH0|C9K0G4|Q8IVT9	37	CCDS6376.1																																																																																			COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000315905.2		-	ENST00000303045.6	Frame_Shift_Ins	INS	8 : 139635983 - 139635984 A PAAD-TCGA-IB-7651-Tumor-SM-2NW71	1567	274
